diff --git a/Cargo.toml b/Cargo.toml index 1ae8dfd..96847c3 100644 --- a/Cargo.toml +++ b/Cargo.toml @@ -1,14 +1,18 @@ [package] name = "hgvs-weaver-py" -version = "0.2.0" +version = "0.3.0" edition = "2021" [lib] name = "_weaver" # This will be the name of the python module crate-type = ["cdylib", "rlib"] +[features] +extension-module = ["pyo3/extension-module"] +default = ["extension-module"] + [dependencies] -pyo3 = { version = "0.27.1", features = ["extension-module", "generate-import-lib"] } +pyo3 = { version = "0.27.1", features = ["generate-import-lib"] } pyo3-stub-gen = "0.17.1" hgvs-weaver = { path = "./hgvs-weaver" } serde_json = "1.0" diff --git a/README.md b/README.md index 78686ea..a74678d 100644 --- a/README.md +++ b/README.md @@ -166,1164 +166,46 @@ To rerun the validation, you need the RefSeq annotation and genomic sequence fil uv run weaver/cli/validate.py data/clinvar_variants_100k.tsv ... ``` -### Validation Results (100,000 variants) - -Summary of results comparing `weaver` and `ref-hgvs` against ClinVar ground truth: - +

- - - - - - 2026-02-17T15:56:45.685371 - image/svg+xml - - - Matplotlib v3.10.8, https://matplotlib.org/ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + + + + Performance Graph +

+ -| Implementation | Protein Match | SPDI Match | Parse Errors | -| :------------- | :-----------: | :---------: | :----------: | -| weaver | **93.826%** | **97.968%** | **1** | -| ref-hgvs | 93.337% | 94.022% | 394 | +### Validation Results (100,000 variants) -RefSeq Data Mismatches: 0 (0.0%) +Summary of results comparing `weaver` and `ref-hgvs` against ClinVar ground truth: -#### Protein Translation Agreement +| Implementation | Identity Match | Analogous Match | Total Success | +| :------------- | :------------: | :-------------: | :-----------: | +| **weaver** | **93.85%** | **4.92%** | **98.77%** | +| ref-hgvs | 93.34% | 4.88% | 98.22% | + +RefSeq Data Mismatches: 0 (0.0%) -| | ref-hgvs Match | ref-hgvs Mismatch | -| :------------------ | :------------: | :---------------: | -| **weaver Match** | 93,330 | 496 | -| **weaver Mismatch** | 7 | 6,167 | -#### SPDI Mapping Agreement +#### Comparison with Reference Tool -| | ref-hgvs Match | ref-hgvs Mismatch | -| :------------------ | :------------: | :---------------: | -| **weaver Match** | 93,919 | 4,049 | -| **weaver Mismatch** | 103 | 1,929 | +As shown in the visualization above, `weaver` now consistently outperforms existing implementations in protein projection accuracy and biological equivalence. - **Variant Equivalence**: Check if two variants are biologically equivalent using advanced cross-coordinate mapping and normalization. [See Algorithm](docs/source/equivalence_logic.md). + +## Troubleshooting + +### `stub_gen` Linking Error + +If you encounter a linking error like `dyld: symbol not found in flat namespace '_PyBool_Type'` when running `stub_gen`, it is because the `extension-module` feature (enabled by default for Python bindings) conflicts with standalone binary execution on some platforms (like macOS). + +To fix this, run `stub_gen` with default features disabled: + +```bash +cargo run --bin stub_gen --no-default-features +``` diff --git a/benchmark_results/history.json b/benchmark_results/history.json index 12570cd..c3bad02 100644 --- a/benchmark_results/history.json +++ b/benchmark_results/history.json @@ -1,42 +1,52 @@ [ { "total": 100000, - "p_match": 93826, - "spdi_match": 97968, - "p_perc": 93.826, - "spdi_perc": 97.968, + "w_identity": 93849, + "w_analogous": 4923, + "ref_identity": 93337, + "ref_analogous": 4875, + "commit": "f0a94a7", + "date": "2026-02-21", + "message": "Bump version to 0.3.0" + }, + { + "total": 100000, "commit": "b9b5c8b", "date": "2026-02-17", - "message": "feat: implement are_equivalent functionality (#1)" + "message": "feat: implement are_equivalent functionality (#1)", + "w_identity": 93826, + "w_analogous": 4882, + "ref_identity": 93337, + "ref_analogous": 4875 }, { "total": 100000, - "p_match": 86724, - "spdi_match": 92522, - "p_perc": 86.724, - "spdi_perc": 92.522, "commit": "7e801fc", "date": "2026-02-01", - "message": "Bump version to 0.1.1 and add crates.io metadata." + "message": "Bump version to 0.1.1 and add crates.io metadata.", + "w_identity": 86724, + "w_analogous": 8212, + "ref_identity": 84557, + "ref_analogous": 4694 }, { "total": 100000, - "p_match": 86724, - "spdi_match": 92522, - "p_perc": 86.724, - "spdi_perc": 92.522, "commit": "126697a", "date": "2026-02-01", - "message": "replace logo svg" + "message": "replace logo svg", + "w_identity": 86724, + "w_analogous": 8212, + "ref_identity": 84557, + "ref_analogous": 4694 }, { "total": 100000, - "p_match": 86724, - "spdi_match": 92522, - "p_perc": 86.724, - "spdi_perc": 92.522, "commit": "bfc8291", "date": "2026-02-01", - "message": "Initial release of weaver v0.1.0" + "message": "Initial release of weaver v0.1.0", + "w_identity": 86724, + "w_analogous": 8212, + "ref_identity": 84557, + "ref_analogous": 4694 } -] \ No newline at end of file +] diff --git a/benchmark_results/performance_dark.svg b/benchmark_results/performance_dark.svg new file mode 100644 index 0000000..7914b65 --- /dev/null +++ b/benchmark_results/performance_dark.svg @@ -0,0 +1,1631 @@ + + + + + + 2026-02-22T09:36:17.286176 + image/svg+xml + + + Matplotlib v3.10.8, https://matplotlib.org/ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/benchmark_results/performance_light.svg b/benchmark_results/performance_light.svg new file mode 100644 index 0000000..bac1a66 --- /dev/null +++ b/benchmark_results/performance_light.svg @@ -0,0 +1,1631 @@ + + + + + + 2026-02-22T09:36:17.239606 + image/svg+xml + + + Matplotlib v3.10.8, https://matplotlib.org/ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/benchmark_results/results_f0a94a7.tsv b/benchmark_results/results_f0a94a7.tsv new file mode 100644 index 0000000..f0fcdec --- /dev/null +++ b/benchmark_results/results_f0a94a7.tsv @@ -0,0 +1,100026 @@ +variant_nuc variant_prot spdi rs_p rs_spdi ref_p ref_spdi equivalence_level +NM_000323.2:c.1892_1903dup NP_000314.1:p.Cys634_Arg635insHisGluLeuCys NC_000010.11:43114491:ACGAGCTGTGCC:ACGAGCTGTGCCACGAGCTGTGCC ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +LRG_993t1:c.936G>A LRG_993p1:p.Lys312= NC_000008.11:38424508:C:T ERR:Data provider error: ValueError: Transcript LRG_993t1 not found ERR:Data provider error: ValueError: Transcript LRG_993t1 not found ERR:AlignmentMapper(tx_ac=LRG_993t1, alt_ac=LRG_993t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_993t1, alt_ac=LRG_993t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_993t1 not found +NM_000256.3:c.3585C>A NP_000247.2:p.Gly1195= NC_000011.10:47332607:G:T p.(Gly1195=) NC_000011.10:47332607:G:T p.(Gly1195=) NC_000011.10:47332607:G:T Identity +NM_001122606.1:c.855C>T NP_001116078.1:p.Val285= NC_000023.11:120446313:G:A p.(Val285=) NC_000023.11:120446313:G:A p.(Val285=) NC_000023.11:120446313:G:A Identity +NM_001346897.2:c.2082_2099dup NP_001333826.1:p.Ile695_Lys700dup NC_000007.14:55174751:AAAATTCCCGTCGCTATCAA:AAAATTCCCGTCGCTATCAAAATTCCCGTCGCTATCAA p.(Ile695_Lys700dup) NC_000007.14:55174751:AAAATTCCCGTCGCTATCAA:AAAATTCCCGTCGCTATCAAAATTCCCGTCGCTATCAA p.(Ile695_Lys700dup) ERR:SPDI Identity +NM_000422.3:c.274_297del NP_000413.1:p.Asn92_Leu99del NC_000017.11:41624212:CAGGTAGGAGGCCAGGCGGTCATT: p.(Asn92_Leu99del) NC_000017.11:41624212:CAGGTAGGAGGCCAGGCGGTCATT: p.(Asn92_Leu99del) NC_000017.11:41624212:CAGGTAGGAGGCCAGGCGGTCATT: Identity +NM_001257374.3:c.387G>A NP_001244303.1:p.Leu129= NC_000001.11:156134887:G:A p.(Leu129=) NC_000001.11:156134887:G:A p.(Leu129=) NC_000001.11:156134887:G:A Identity +NM_000424.4:c.1755G>A NP_000415.2:p.Arg585= NC_000012.12:52514959:C:T p.(Arg585=) NC_000012.12:52514959:C:T p.(Arg585=) NC_000012.12:52514959:C:T Identity +NM_021076.4:c.1878A>C NP_066554.2:p.Ala626= NC_000022.11:29489517:A:C p.(Ala626=) NC_000022.11:29489517:A:C p.(Ala626=) NC_000022.11:29489517:A:C Identity +NM_001350334.2:c.495_498del NP_001337263.1:p.Ala164_Tyr165insTer NC_000021.9:32601940:TAAATA:TA p.(Tyr165Ter) NC_000021.9:32601940:TAAATA:TA p.(Tyr165Ter) NC_000021.9:32601940:TAAA: Analogous +NM_001008709.2:c.519G>A NP_001008709.1:p.Ala173= NC_000011.10:67399597:C:T p.(Ala173=) NC_000011.10:67399597:C:T p.(Ala173=) NC_000011.10:67399597:C:T Identity +NM_000744.7:c.1311T>C NP_000735.1:p.Ala437= NC_000020.11:63350099:A:G p.(Ala437=) NC_000020.11:63350099:A:G p.(Ala437=) NC_000020.11:63350099:A:G Identity +NM_000744.7:c.705T>C NP_000735.1:p.Tyr235= NC_000020.11:63350705:A:G p.(Tyr235=) NC_000020.11:63350705:A:G p.(Tyr235=) NC_000020.11:63350705:A:G Identity +NM_001039970.2:c.507C>T NP_001035059.1:p.Ile169= NC_000011.10:18742383:G:A p.(Ile169=) NC_000011.10:18742383:G:A p.(Ile169=) NC_000011.10:18742383:G:A Identity +NM_000332.4:c.927T>C NP_000323.2:p.Ala309= NC_000006.12:16327383:A:G p.(Ala309=) NC_000006.12:16327383:A:G p.(Ala309=) NC_000006.12:16327383:A:G Identity +NM_001291285.3:c.7035TGGAAC[3] NP_001278214.1:p.2346GT[3] NC_000004.12:125434258:ACTGGAACTGGAAC:ACTGGAACTGGAACTGGAAC p.(Gly2348_Thr2349dup) NC_000004.12:125434260:T:TGGAACTGGAACTGGAAC ERR:Parse ERR:Parse Analogous +NM_005094.4:c.513C>G NP_005085.2:p.Thr171= NC_000009.12:128345505:C:G p.(Thr171=) NC_000009.12:128345505:C:G p.(Thr171=) NC_000009.12:128345505:C:G Identity +NM_000252.3:c.888_889del NP_000243.1:p.Glu296_Ser297insTer NC_000023.11:150649734:AAA:A p.(Ser297Ter) NC_000023.11:150649734:AAA:A p.(Ser297Ter) NC_000023.11:150649735:AA: Analogous +NM_000260.4:c.2829G>A NP_000251.3:p.Val943= NC_000011.10:77181513:G:A p.(Val943=) NC_000011.10:77181513:G:A p.(Val943=) NC_000011.10:77181513:G:A Identity +NM_001370524.1:c.208_234= NP_001357453.1:p.Lys70_Lys78= NC_000003.12:46709583:AAGAAGAAGAAGAAGAAGAAGAAGAAG:AAGAAGAAGAAGAAGAAGAAGAAGAAG p.(Lys70_Lys78=) NC_000003.12:46709583:AAGAAGAAGAAGAAGAAGAAGAAGAAG: p.(Lys70=) NC_000003.12:46709583:AAGAAGAAGAAGAAGAAGAAGAAGAAG:AAGAAGAAGAAGAAGAAGAAGAAGAAG Identity +NM_133378.4:c.54057A>C NP_596869.4:p.Thr18019= NC_000002.12:178589963:T:G p.(Thr18019=) NC_000002.12:178589963:T:G p.(Thr18019=) NC_000002.12:178589963:T:G Identity +NM_033118.4:c.1659C>G NP_149109.1:p.Arg553= NC_000020.11:31832084:C:G p.(Arg553=) NC_000020.11:31832084:C:G p.(Arg553=) NC_000020.11:31832084:C:G Identity +NM_005859.5:c.745del NP_005850.1:p.Glu248_Val249insTer NC_000005.10:140114924:GG:G p.(Val249Ter) NC_000005.10:140114924:GG:G p.(Val249Ter) NC_000005.10:140114925:G: Analogous +NM_001165963.4:c.942del NP_001159435.1:p.Asp313_Trp314insTer NC_000002.12:166051740:CC:C p.(Trp314Ter) NC_000002.12:166051740:CC:C p.(Trp314Ter) NC_000002.12:166051740:C: Analogous +NM_001007026.2:c.1471_1472insCAGCAG NP_001007027.1:p.Gln491delinsProAlaGlu NC_000012.12:6936738::CAGCAG p.(Gln491delinsProAlaGlu) NC_000012.12:6936737:C:CAGCAG p.(Gln491delinsProAlaGlu) NC_000012.12:6936738:CA:CAGCAG Identity +NM_001368395.3:c.2265C>T NP_001355324.1:p.Asn755= NC_000023.11:12716612:C:T p.(Asn755=) NC_000023.11:12716612:C:T p.(Asn755=) NC_000023.11:12716612:C:T Identity +NM_015384.5:c.4532_4533del NP_056199.2:p.Asp1510_Ser1511insTer NC_000005.10:37010194:CTCT:CT p.(Ser1511Ter) NC_000005.10:37010194:CTCT:CT p.(Ser1511Ter) NC_000005.10:37010196:CT: Analogous +NM_015384.5:c.4988_4991dup NP_056199.2:p.Glu1664delinsAspTer NC_000005.10:37019376:ACTGA:ACTGACTGA p.(Glu1664AspfsTer2) NC_000005.10:37019376:ACTGA:ACTGACTGA p.(Glu1664AspfsTer2) ERR:SPDI Analogous +NM_001384475.1:c.6153C>T NP_001371404.1:p.Ala2051= NC_000018.10:75063873:C:T p.(Ala2051=) NC_000018.10:75063873:C:T p.(Ala2051=) NC_000018.10:75063873:C:T Identity +NM_000192.3:c.376_402del NP_000183.2:p.Lys126_Arg134del NC_000012.12:114398680:GCGGCCAGGCATGGCGGGCTCAGCTTTGC:GC p.(Lys126_Arg134del) NC_000012.12:114398680:GCGGCCAGGCATGGCGGGCTCAGCTTTGC:GC p.(Lys126_Arg134del) NC_000012.12:114398680:GCGGCCAGGCATGGCGGGCTCAGCTTT: Identity +NM_001999.4:c.1339AATGGC[3] NP_001990.2:p.447NG[3] NC_000005.10:128393249:GCCATTGCCATTGCCA:GCCATTGCCATTGCCATTGCCA p.(Asn449_Gly450dup) NC_000005.10:128393260:T:GCCATTGCCATTGCCATT ERR:Parse ERR:Parse Analogous +NM_058216.3:c.964A>C NP_478123.1:p.Arg322= NC_000017.11:58724098:A:C p.(Arg322=) NC_000017.11:58724098:A:C p.(Arg322=) NC_000017.11:58724098:A:C Identity +NM_001692.4:c.904C>A NP_001683.2:p.Arg302= NC_000002.12:70962894:C:A p.(Arg302=) NC_000002.12:70962894:C:A p.(Arg302=) NC_000002.12:70962894:C:A Identity +NM_004415.4:c.4899C>G NP_004406.2:p.Leu1633= NC_000006.12:7581088:C:G p.(Leu1633=) NC_000006.12:7581088:C:G p.(Leu1633=) NC_000006.12:7581088:C:G Identity +NM_000256.3:c.3477T>C NP_000247.2:p.Phe1159= NC_000011.10:47332826:A:G p.(Phe1159=) NC_000011.10:47332826:A:G p.(Phe1159=) NC_000011.10:47332826:A:G Identity +NM_001145809.2:c.1995G>A NP_001139281.1:p.Ser665= NC_000019.10:50255268:G:A p.(Ser665=) NC_000019.10:50255268:G:A p.(Ser665=) NC_000019.10:50255268:G:A Identity +NM_000527.5:c.776_777del NP_000518.1:p.Glu258_Tyr259insTer NC_000019.10:11106643:ATAT:AT p.(Tyr259Ter) NC_000019.10:11106643:ATAT:AT p.(Tyr259Ter) NC_000019.10:11106645:AT: Analogous +NM_000527.5:c.525_536del NP_000518.1:p.Asp175_Asp178del NC_000019.10:11105428:GATGGCTCGGATGA:GA p.(Asp175_Asp178del) NC_000019.10:11105428:GATGGCTCGGATGA:GA p.(Asp175_Asp178del) NC_000019.10:11105430:TGGCTCGGATGA: Identity +NM_001004065.4:c.46TCTCCTGGACCCCCGGAG[1] NP_001004065.2:p.16SPGPPE[1] NC_000009.12:110048735:CCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAG:CCCCCGGAGTCTCCTGGACCCCCGGAG p.(Ser22_Glu27del) NC_000009.12:110048744:T:TCTCCTGGACCCCCGGAG ERR:Parse ERR:Parse Analogous +NM_000296.4:c.3384C>G NP_000287.4:p.Ser1128= NC_000016.10:2111782:G:C p.(Ser1128=) NC_000016.10:2111782:G:C p.(Ser1128=) NC_000016.10:2111782:G:C Identity +NM_003235.5:c.1260G>A NP_003226.4:p.Gly420= NC_000008.11:132886631:G:A p.(Gly420=) NC_000008.11:132886631:G:A p.(Gly420=) NC_000008.11:132886631:G:A Identity +NM_001083908.2:c.1110G>A NP_001077377.1:p.Ala370= NC_000014.9:49634039:C:T p.(Ala370=) NC_000014.9:49634039:C:T p.(Ala370=) NC_000014.9:49634039:C:T Identity +LRG_428t1:c.876A>G LRG_428p1:p.Pro292= NC_000003.12:189866790:A:G ERR:Data provider error: ValueError: Transcript LRG_428t1 not found ERR:Data provider error: ValueError: Transcript LRG_428t1 not found ERR:AlignmentMapper(tx_ac=LRG_428t1, alt_ac=LRG_428t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_428t1, alt_ac=LRG_428t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_428t1 not found +NM_001927.4:c.438C>G NP_001918.3:p.Arg146= NC_000002.12:219418899:C:G p.(Arg146=) NC_000002.12:219418899:C:G p.(Arg146=) NC_000002.12:219418899:C:G Identity +LRG_512t1:c.3546_3547CT[1] LRG_512p1:p.Ser1183Terfs NC_000005.10:177211944:CTCT:CT ERR:Data provider error: ValueError: Transcript LRG_512t1 not found ERR:Data provider error: ValueError: Transcript LRG_512t1 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript LRG_512t1 not found +NM_001318186.2:c.707dup NP_001305115.1:p.Phe237_Asp238insTer NC_000009.12:83972055:CC:CCC p.(Asp238Ter) NC_000009.12:83972055:CC:CCC p.(Asp238Ter) ERR:SPDI Analogous +NM_001256411.2:c.570A>G NP_001243340.1:p.Pro190= NC_000010.11:27538066:A:G p.(Pro190=) NC_000010.11:27538066:A:G p.(Pro190=) NC_000010.11:27538066:A:G Identity +NM_001364085.2:c.1395C>A NP_001351014.1:p.Ala465= NC_000012.12:47844634:G:T p.(Ala465=) NC_000012.12:47844634:G:T p.? NC_000012.12:47844634:G:T Identity +NM_000424.4:c.357C>A NP_000415.2:p.Gly119= NC_000012.12:52519939:G:T p.(Gly119=) NC_000012.12:52519939:G:T p.(Gly119=) NC_000012.12:52519939:G:T Identity +LRG_247t1:c.99C>T LRG_247p1:p.Ser33= NC_000012.12:753663:C:T ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_247t1 not found +NM_207361.6:c.4968C>T NP_997244.4:p.Pro1656= NC_000013.11:38692311:C:T p.(Pro1656=) NC_000013.11:38692311:C:T p.(Pro1656=) NC_000013.11:38692311:C:T Identity +NM_000208.4:c.3054G>A NP_000199.2:p.Val1018= NC_000019.10:7125486:C:T p.(Val1018=) NC_000019.10:7125486:C:T p.(Val1018=) NC_000019.10:7125486:C:T Identity +NM_001059.3:c.1290G>A NP_001050.1:p.Thr430= NC_000004.12:103589789:C:T p.(Thr430=) NC_000004.12:103589789:C:T p.(Thr430=) NC_000004.12:103589789:C:T Identity +NM_003221.4:c.48T>G NP_003212.2:p.Leu16= NC_000006.12:50818938:T:G p.(Leu16=) NC_000006.12:50818938:T:G p.(Leu16=) NC_000006.12:50818938:T:G Identity +NM_005045.4:c.-24GGC[13] NP_005036.2:p.Met1_Glu2insGlyGlyGlyGlyGly NC_000007.14:103989356:GCCGCCGCCGCCGCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC p.(Ter0_Met1insGlyGlyGlyGlyGly) NC_000007.14:103989379:C:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Different +NM_003235.5:c.6576C>T NP_003226.4:p.Leu2192= NC_000008.11:133017790:C:T p.(Leu2192=) NC_000008.11:133017790:C:T p.(Leu2192=) NC_000008.11:133017790:C:T Identity +NM_004518.6:c.973A>C NP_004509.2:p.Arg325= NC_000020.11:63438674:T:G p.(Arg325=) NC_000020.11:63438674:T:G p.(Arg325=) NC_000020.11:63438674:T:G Identity +NM_000284.4:c.921_932dup NP_000275.1:p.Val310_Arg311insSerGlnGluVal NC_000023.11:19358936:TCAGGAAGTAAG:TCAGGAAGTAAGTCAGGAAGTAAG p.(Val310_Arg311insSerGlnGluVal) NC_000023.11:19358936:TCAGGAAGTAAG:TCAGGAAGTAAGTCAGGAAGTAAG p.(Val310_Arg311insSerGlnGluVal) ERR:SPDI Identity +NM_006734.4:c.1366_1377del NP_006725.3:p.Met456_Leu459del NC_000006.12:142773361:TAATGGTTCCATTA:TA p.(Met456_Leu459del) NC_000006.12:142773361:TAATGGTTCCATTA:TA p.(Met456_Leu459del) NC_000006.12:142773361:TAATGGTTCCAT: Identity +NM_001135659.3:c.1338C>A NP_001129131.1:p.Thr446= NC_000002.12:50620123:G:T p.(Thr446=) NC_000002.12:50620123:G:T p.(Thr446=) NC_000002.12:50620123:G:T Identity +LRG_1389t1:c.1002A>G LRG_1389p1:p.Pro334= NC_000012.12:51702781:A:G ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found +NM_178012.5:c.342C>T NP_821080.1:p.Asp114= NC_000006.12:3225746:G:A p.(Asp114=) NC_000006.12:3225746:G:A p.(Asp114=) NC_000006.12:3225746:G:A Identity +NM_000032.5:c.1395C>T NP_000023.2:p.Gly465= NC_000023.11:55014788:G:A p.(Gly465=) NC_000023.11:55014788:G:A p.(Gly465=) NC_000023.11:55014788:G:A Identity +LRG_1340t1:c.24G>T LRG_1340p1:p.Ala8= NC_000023.11:154371221:C:A ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found +NM_000833.5:c.1728T>C NP_000824.1:p.Phe576= NC_000016.10:9834153:A:G p.(Phe576=) NC_000016.10:9834153:A:G p.(Phe576=) NC_000016.10:9834153:A:G Identity +NM_001270399.2:c.1257A>G NP_001257328.1:p.Ser419= NC_000012.12:49185108:T:C p.(Ser419=) NC_000012.12:49185108:T:C p.(Ser419=) NC_000012.12:49185108:T:C Identity +NM_001031714.4:c.973C>T NP_001026884.3:p.Leu325= NC_000014.9:104707038:C:T p.(Leu325=) NC_000014.9:104707038:C:T p.(Leu325=) NC_000014.9:104707038:C:T Identity +NM_181882.3:c.2967C>G NP_870998.2:p.Leu989= NC_000019.10:40395384:G:C p.(Leu989=) NC_000019.10:40395384:G:C p.(Leu989=) NC_000019.10:40395384:G:C Identity +NM_000539.3:c.405G>T NP_000530.1:p.Arg135= NC_000003.12:129530918:G:T p.(Arg135=) NC_000003.12:129530918:G:T p.(Arg135=) NC_000003.12:129530918:G:T Identity +NM_001272003.2:c.3360C>A NP_001258932.1:p.Thr1120= NC_000009.12:135786513:C:A p.(Thr1120=) NC_000009.12:135786513:C:A p.(Thr1120=) NC_000009.12:135786513:C:A Identity +NM_033071.5:c.21378A>G NP_149062.2:p.Leu7126= NC_000006.12:152221490:T:C p.(Leu7126=) NC_000006.12:152221490:T:C p.(Leu7126=) NC_000006.12:152221490:T:C Identity +NM_033071.5:c.8784G>A NP_149062.2:p.Thr2928= NC_000006.12:152381251:C:T p.(Thr2928=) NC_000006.12:152381251:C:T p.(Thr2928=) NC_000006.12:152381251:C:T Identity +NM_022114.4:c.1965C>A NP_071397.3:p.Pro655= NC_000001.11:3412161:C:A p.(Pro655=) NC_000001.11:3412161:C:A p.(Pro655=) NC_000001.11:3412161:C:A Identity +NM_001256850.1:c.68973_68974insACT NP_001243779.1:p.Ser22991_Val22992insThr NC_000002.12:178572235:A:AGTA p.(Ser22991_Val22992insThr) NC_000002.12:178572234:C:AGT p.(Ser22991_Val22992insThr) NC_000002.12:178572235:CA:AGT Identity +NM_001367479.1:c.12651C>T NP_001354408.1:p.Gly4217= NC_000001.11:225377370:C:T p.(Gly4217=) NC_000001.11:225377370:C:T p.(Gly4217=) NC_000001.11:225377370:C:T Identity +NM_001330542.2:c.15T>G NP_001317471.1:p.Thr5= NC_000017.11:82419813:T:G p.(Thr5=) NC_000017.11:82419813:T:G p.(Thr5=) NC_000017.11:82419813:T:G Identity +NM_001128844.3:c.*6_*32dup NP_001122316.1:p.Ter1648= NC_000019.10:11061814:GAGCCCCGACATTCCAGTCTCGACCCCGAGCCCC:GAGCCCCGACATTCCAGTCTCGACCCCGAGCCCCGACATTCCAGTCTCGACCCCGAGCCCC p.(Pro1650_Pro1659=) NC_000019.10:11061814:GAGCCCCGACATTCCAGTCTCGACCCCGAGCCCC:GAGCCCCGACATTCCAGTCTCGACCCCGAGCCCCGACATTCCAGTCTCGACCCCGAGCCCC p.? ERR:SPDI Analogous +NM_017780.4:c.4533G>A NP_060250.2:p.Lys1511= NC_000008.11:60838254:G:A p.(Lys1511=) NC_000008.11:60838254:G:A p.(Lys1511=) NC_000008.11:60838254:G:A Identity +NM_001256850.1:c.33147GGAAGAGGAAGTTCTACCTGA[1] NP_001243779.1:p.11046VLPEEEE[3] NC_000002.12:178677772:TCAGGTAGAACTTCCTCTTCCTCAGGTAGAACTTCCTCTTCCTCAGGTAGAACTTCCTCTTC:TCAGGTAGAACTTCCTCTTCCTCAGGTAGAACTTCCTCTTC p.(Val11067_Glu11073del) NC_000002.12:178677813:C:TCAGGTAGAACTTCCTCTTCC ERR:Parse ERR:Parse Analogous +NM_000079.4:c.934_942del NP_000070.1:p.Thr312_Ile314del NC_000002.12:174750005:GATGACAGTGATGA:GATGA p.(Thr312_Ile314del) NC_000002.12:174750005:GATGACAGTGATGA:GATGA p.(Thr312_Ile314del) NC_000002.12:174750005:GATGACAGT: Identity +NM_001293228.2:c.1358_1363del NP_001280157.1:p.Gln453_Leu454del NC_000002.12:15946057:GCAGTTGC:GC p.(Gln453_Leu454del) NC_000002.12:15946057:GCAGTTGC:GC p.(Gln453_Leu454del) NC_000002.12:15946059:AGTTGC: Identity +NM_001278463.2:c.1689delinsAGGTTTTTCAGGTGCATCA NP_001265392.1:p.Gly564_Gly565insPheSerGlyAlaSerGly NC_000012.12:32740077:T:AGGTTTTTCAGGTGCATCA p.(Gly564_Gly565insPheSerGlyAlaSerGly) NC_000012.12:32740077:T:AGGTTTTTCAGGTGCATCA p.(Gly564_Gly565insPheSerGlyAlaSerGly) NC_000012.12:32740077:T:AGGTTTTTCAGGTGCATCA Identity +LRG_712t1:c.189_209del LRG_712p1:p.S64_W70del NC_000002.12:202464919:GTAGCACCTGCTATGGCCTTTG:G ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +NM_001282167.2:c.833_835dup NP_001269096.1:p.Val278dup NC_000023.11:48515943:GTGG:GTGGTGG p.(Val278dup) NC_000023.11:48515943:GTGG:GTGGTGG p.(Val278dup) ERR:SPDI Identity +NM_000527.5:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT NP_000518.1:p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu NC_000019.10:11105574:GGACAAATCTGACGA:AACTGCGGTAAACTGCGGTAAACT p.(Asp224_Glu229delinsGluThrAlaValAsnCysGlyLysLeu) NC_000019.10:11105573:AGGACAAATCTGACGAGGA:AGGAAACTGCGGTAAACTGCGGTAAACT p.(Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu) NC_000019.10:11105574:GGACAAATCTGACGA:AACTGCGGTAAACTGCGGTAAACT Different +NM_000206.3:c.207_211dup NP_000197.1:p.Asn71delinsThrTer NC_000023.11:71110954:TCATGT:TCATGTCATGT p.(Asn71ThrfsTer2) NC_000023.11:71110954:TCATGT:TCATGTCATGT p.(Asn71ThrfsTer2) ERR:SPDI Analogous +NM_002472.3:c.387C>T NP_002463.2:p.Asn129= NC_000017.11:10418768:G:A p.(Asn129=) NC_000017.11:10418768:G:A p.(Asn129=) NC_000017.11:10418768:G:A Identity +NM_001282145.2:c.955C>A NP_001269074.1:p.Arg319= NC_000023.11:5903722:G:T p.(Arg319=) NC_000023.11:5903722:G:T p.(Arg319=) NC_000023.11:5903722:G:T Identity +NM_001278716.2:c.18C>T NP_001265645.1:p.Pro6= NC_000006.12:98926970:G:A p.(Pro6=) NC_000006.12:98926970:G:A p.(Pro6=) NC_000006.12:98926970:G:A Identity +NM_001278716.2:c.1224C>G NP_001265645.1:p.Leu408= NC_000006.12:98899360:G:C p.(Leu408=) NC_000006.12:98899360:G:C p.(Leu408=) NC_000006.12:98899360:G:C Identity +NM_001278716.2:c.105T>C NP_001265645.1:p.His35= NC_000006.12:98926883:A:G p.(His35=) NC_000006.12:98926883:A:G p.(His35=) NC_000006.12:98926883:A:G Identity +NM_001278716.2:c.399A>G NP_001265645.1:p.Gln133= NC_000006.12:98926589:T:C p.(Gln133=) NC_000006.12:98926589:T:C p.(Gln133=) NC_000006.12:98926589:T:C Identity +NM_000478.6:c.303del NP_000469.3:p.Thr100_Tyr101insTer NC_000001.11:21563114:C: p.(Tyr101Ter) NC_000001.11:21563114:C: p.(Tyr101Ter) NC_000001.11:21563114:C: Analogous +NM_033071.5:c.21690_21691delinsGG NP_149062.2:p.Phe7230_Phe7231delinsLeuVal NC_000006.12:152219142:AA:CC p.(Phe7230_Phe7231delinsLeuVal) NC_000006.12:152219142:AA:CC p.(Phe7230_Phe7231delinsLeuVal) NC_000006.12:152219142:AA:CC Identity +NM_000296.4:c.11640C>T NP_000287.4:p.Ala3880= NC_000016.10:2091491:G:A p.(Ala3880=) NC_000016.10:2091491:G:A p.(Ala3880=) NC_000016.10:2091491:G:A Identity +NM_001282385.2:c.27del NP_001269314.1:p.Ser8_Trp9insTer NC_000006.12:31666856:GG:G p.(Trp9Ter) NC_000006.12:31666856:GG:G p.(Trp9Ter) NC_000006.12:31666857:G: Analogous +NM_001256850.1:c.28551A>G NP_001243779.1:p.Glu9517= NC_000002.12:178705275:T:C p.(Glu9517=) NC_000002.12:178705275:T:C p.(Glu9517=) NC_000002.12:178705275:T:C Identity +NM_000828.5:c.1608_1616del NP_000819.4:p.Pro537_Lys539del NC_000023.11:123417504:AGAAGCCTCAGAA:AGAA p.(Pro537_Lys539del) NC_000023.11:123417504:AGAAGCCTCAGAA:AGAA p.(Pro537_Lys539del) NC_000023.11:123417508:GCCTCAGAA: Identity +NM_001173479.2:c.546C>A NP_001166950.1:p.Ile182= NC_000023.11:63678428:G:T p.(Ile182=) NC_000023.11:63678428:G:T p.(Ile182=) NC_000023.11:63678428:G:T Identity +LRG_993t1:c.153G>A LRG_993p1:p.Leu51= NC_000008.11:38429886:C:T ERR:Data provider error: ValueError: Transcript LRG_993t1 not found ERR:Data provider error: ValueError: Transcript LRG_993t1 not found ERR:AlignmentMapper(tx_ac=LRG_993t1, alt_ac=LRG_993t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_993t1, alt_ac=LRG_993t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_993t1 not found +NM_001001935.3:c.840A>G NP_001001935.1:p.Arg280= NC_000018.10:46087193:T:C p.(Arg280=) NC_000018.10:46087193:T:C p.(Arg280=) NC_000018.10:46087193:T:C Identity +NM_001145853.1:c.1461C>T NP_001139325.1:p.Thr487= NC_000004.12:6301255:C:T p.(Thr487=) NC_000004.12:6301255:C:T p.(Thr487=) NC_000004.12:6301255:C:T Identity +LRG_135t1:c.1005A>G LRG_135p1:p.Gly335= NC_000011.10:108247066:A:G ERR:Data provider error: ValueError: Transcript LRG_135t1 not found ERR:Data provider error: ValueError: Transcript LRG_135t1 not found ERR:AlignmentMapper(tx_ac=LRG_135t1, alt_ac=LRG_135t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_135t1, alt_ac=LRG_135t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_135t1 not found +NM_005159.5:c.633C>A NP_005150.1:p.Val211= NC_000015.10:34792264:G:T p.(Val211=) NC_000015.10:34792264:G:T p.(Val211=) NC_000015.10:34792264:G:T Identity +NM_006517.5:c.225C>T NP_006508.2:p.His75= NC_000023.11:74421861:C:T p.(His75=) NC_000023.11:74421861:C:T p.(His75=) NC_000023.11:74421861:C:T Identity +LRG_765t1:c.3333C>T LRG_765p1:p.Leu1111= NC_000015.10:89318689:G:A ERR:Data provider error: ValueError: Transcript LRG_765t1 not found ERR:Data provider error: ValueError: Transcript LRG_765t1 not found ERR:AlignmentMapper(tx_ac=LRG_765t1, alt_ac=LRG_765t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_765t1, alt_ac=LRG_765t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_765t1 not found +NM_000093.5:c.4494_4502dup NP_000084.3:p.Glu1499_Gly1501dup NC_000009.12:134820158:AGGGTGAGAAGGG:AGGGTGAGAAGGGTGAGAAGGG p.(Glu1499_Gly1501dup) NC_000009.12:134820158:AGGGTGAGAAGGG:AGGGTGAGAAGGGTGAGAAGGG p.(Glu1499_Gly1501dup) ERR:SPDI Identity +NM_001105243.2:c.2640T>C NP_001098713.1:p.Cys880= NC_000023.11:100341969:A:G p.(Cys880=) NC_000023.11:100341969:A:G p.(Cys880=) NC_000023.11:100341969:A:G Identity +NM_001278731.2:c.489C>T NP_001265660.1:p.Pro163= NC_000005.10:140695775:C:T p.(Pro163=) NC_000005.10:140695775:C:T p.(Pro163=) NC_000005.10:140695775:C:T Identity +LRG_831t1:c.12G>A LRG_831p1:p.Gln4= NC_000020.11:63928356:G:A ERR:Data provider error: ValueError: Transcript LRG_831t1 not found ERR:Data provider error: ValueError: Transcript LRG_831t1 not found ERR:AlignmentMapper(tx_ac=LRG_831t1, alt_ac=LRG_831t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_831t1, alt_ac=LRG_831t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_831t1 not found +NM_000702.4:c.1647G>T NP_000693.1:p.Val549= NC_000001.11:160130286:G:T p.(Val549=) NC_000001.11:160130286:G:T p.(Val549=) NC_000001.11:160130286:G:T Identity +LRG_1338t1:c.651G>A LRG_1338p1:p.Leu217= NC_000011.10:72359003:C:T ERR:Data provider error: ValueError: Transcript LRG_1338t1 not found ERR:Data provider error: ValueError: Transcript LRG_1338t1 not found ERR:AlignmentMapper(tx_ac=LRG_1338t1, alt_ac=LRG_1338t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1338t1, alt_ac=LRG_1338t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1338t1 not found +NM_014402.5:c.90C>G NP_055217.2:p.Val30= NC_000005.10:132866970:C:G p.(Val30=) NC_000005.10:132866970:C:G p.(Val30=) NC_000005.10:132866970:C:G Identity +NM_000465.4:c.1524T>C NP_000456.2:p.Asp508= NC_000002.12:214767525:A:G p.(Asp508=) NC_000002.12:214767525:A:G p.(Asp508=) NC_000002.12:214767525:A:G Identity +LRG_778t1:c.2205A>G LRG_778p1:p.Pro735= NC_000015.10:48497353:T:C ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_001256267.2:c.39T>C NP_001243196.1:p.Ser13= NC_000010.11:68121476:T:C p.(Ser13=) NC_000010.11:68121476:T:C p.(Ser13=) NC_000010.11:68121476:T:C Identity +NM_001165963.4:c.1707T>C NP_001159435.1:p.Asn569= NC_000002.12:166044004:A:G p.(Asn569=) NC_000002.12:166044004:A:G p.(Asn569=) NC_000002.12:166044004:A:G Identity +NM_144670.6:c.159G>A NP_653271.3:p.Thr53= NC_000012.12:8823277:G:A p.(Thr53=) NC_000012.12:8823277:G:A p.(Thr53=) NC_000012.12:8823277:G:A Identity +NM_001319034.2:c.3948T>C NP_001305963.1:p.Ala1316= NC_000006.12:7580137:T:C p.(Ala1316=) NC_000006.12:7580137:T:C p.(Ala1316=) NC_000006.12:7580137:T:C Identity +LRG_260t1:c.672G>A LRG_260p1:p.Arg224= NC_000001.11:115286123:C:T ERR:Data provider error: ValueError: Transcript LRG_260t1 not found ERR:Data provider error: ValueError: Transcript LRG_260t1 not found ERR:AlignmentMapper(tx_ac=LRG_260t1, alt_ac=LRG_260t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_260t1, alt_ac=LRG_260t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_260t1 not found +NM_020433.5:c.1725G>T NP_065166.2:p.Pro575= NC_000020.11:44115949:C:A p.(Pro575=) NC_000020.11:44115949:C:A p.(Pro575=) NC_000020.11:44115949:C:A Identity +NM_001256850.1:c.66816C>T NP_001243779.1:p.Ser22272= NC_000002.12:178574392:G:A p.(Ser22272=) NC_000002.12:178574392:G:A p.(Ser22272=) NC_000002.12:178574392:G:A Identity +NM_000335.5:c.3910C>T NP_000326.2:p.Leu1304= NC_000003.12:38562464:G:A p.(Leu1304=) NC_000003.12:38562464:G:A p.(Leu1304=) NC_000003.12:38562464:G:A Identity +NM_005751.5:c.1347A>G NP_005742.4:p.Lys449= NC_000007.14:92001263:A:G p.(Lys449=) NC_000007.14:92001263:A:G p.(Lys449=) NC_000007.14:92001263:A:G Identity +NM_001376.5:c.6930G>A NP_001367.2:p.Glu2310= NC_000014.9:102012385:G:A p.(Glu2310=) NC_000014.9:102012385:G:A p.(Glu2310=) NC_000014.9:102012385:G:A Identity +NM_007254.4:c.552C>T NP_009185.2:p.Val184= NC_000019.10:49864349:G:A p.(Val184=) NC_000019.10:49864349:G:A p.(Val184=) NC_000019.10:49864349:G:A Identity +NM_001256850.1:c.35598T>G NP_001243779.1:p.Arg11866= NC_000002.12:178642273:A:C p.(Arg11866=) NC_000002.12:178642273:A:C p.(Arg11866=) NC_000002.12:178642273:A:C Identity +NM_000088.4:c.1618del NP_000079.2:p.Gly539_Leu540insTer NC_000017.11:50194179:G: p.(Leu540Ter) NC_000017.11:50194179:G: p.(Leu540Ter) NC_000017.11:50194179:G: Analogous +NM_000489.6:c.5565A>G NP_000480.3:p.Thr1855= NC_000023.11:77616613:T:C p.(Thr1855=) NC_000023.11:77616613:T:C p.(Thr1855=) NC_000023.11:77616613:T:C Identity +NM_001111125.3:c.132C>T NP_001104595.1:p.Ile44= NC_000023.11:53320991:G:A p.(Ile44=) NC_000023.11:53320991:G:A p.(Ile44=) NC_000023.11:53320991:G:A Identity +NM_001353840.1:c.240C>T NP_001340769.1:p.Asp80= NC_000023.11:57292544:C:T p.(Asp80=) NC_000023.11:57292544:C:T p.(Asp80=) NC_000023.11:57292544:C:T Identity +NM_001378120.1:c.1470_1478del NP_001365049.1:p.490PRS[1] NC_000002.12:148469408:CACCCAGGTCACC:CACC p.(Pro493_Ser495del) NC_000002.12:148469408:CACCCAGGTCACC:CACC p.(Pro493_Ser495del) NC_000002.12:148469412:CAGGTCACC: Analogous +NM_001204831.3:c.158_169dup NP_001191760.1:p.Arg53_Leu56dup NC_000003.12:43600551:TTAACAATGGTCT:TTAACAATGGTCTTAACAATGGTCT p.(Arg53_Leu56dup) NC_000003.12:43600551:TTAACAATGGTCT:TTAACAATGGTCTTAACAATGGTCT p.(Arg53_Leu56dup) ERR:SPDI Identity +NM_001172766.3:c.1179G>A NP_001166237.1:p.Gln393= NC_000007.14:114652289:G:A p.(Gln393=) NC_000007.14:114652289:G:A p.(Gln393=) NC_000007.14:114652289:G:A Identity +NM_001184896.1:c.366G>A NP_001171825.1:p.Thr122= NC_000023.11:54022293:C:T p.(Thr122=) NC_000023.11:54022293:C:T p.(Thr122=) NC_000023.11:54022293:C:T Identity +NM_001128166.3:c.780T>C NP_001121638.1:p.Ser260= NC_000023.11:111173030:T:C p.(Ser260=) NC_000023.11:111173030:T:C p.(Ser260=) NC_000023.11:111173030:T:C Identity +NM_000719.7:c.6060_6065del NP_000710.5:p.Gln2021_Ala2022del NC_000012.12:2688721:CCAGGC: p.(Gln2021_Ala2022del) NC_000012.12:2688721:CCAGGC: p.(Gln2021_Ala2022del) NC_000012.12:2688721:CCAGGC: Identity +NM_001353899.1:c.1563C>T NP_001340828.1:p.Ser521= NC_000018.10:47100872:C:T p.(Ser521=) NC_000018.10:47100872:C:T p.(Ser521=) NC_000018.10:47100872:C:T Identity +NM_001289396.2:c.744G>A NP_001276325.1:p.Thr248= NC_000009.12:2039853:G:A p.(Thr248=) NC_000009.12:2039853:G:A p.(Thr248=) NC_000009.12:2039853:G:A Identity +NM_001282531.3:c.1773A>C NP_001269460.1:p.Pro591= NC_000020.11:50892940:T:G p.(Pro591=) NC_000020.11:50892940:T:G p.(Pro591=) NC_000020.11:50892940:T:G Identity +NM_030665.4:c.3783G>A NP_109590.3:p.Glu1261= NC_000017.11:17796730:G:A p.(Glu1261=) NC_000017.11:17796730:G:A p.(Glu1261=) NC_000017.11:17796730:G:A Identity +NM_020988.3:c.156G>A NP_066268.1:p.Gln52= NC_000016.10:56192610:G:A p.(Gln52=) NC_000016.10:56192610:G:A p.(Gln52=) NC_000016.10:56192610:G:A Identity +NM_003793.4:c.1263G>T NP_003784.2:p.Arg421= NC_000011.10:66564615:C:A p.(Arg421=) NC_000011.10:66564615:C:A p.(Arg421=) NC_000011.10:66564615:C:A Identity +NM_001029835.2:c.377del NP_001025006.1:p.His125_Leu126insTer NC_000007.14:45064486:TT:T p.(Leu126Ter) NC_000007.14:45064486:TT:T p.(Leu126Ter) NC_000007.14:45064487:T: Analogous +NM_002968.3:c.253_258del NP_002959.2:p.Phe85_Ser86del NC_000016.10:51141963:GGAGAAGG:GG p.(Phe85_Ser86del) NC_000016.10:51141963:GGAGAAGG:GG p.(Phe85_Ser86del) NC_000016.10:51141963:GGAGAA: Identity +NM_003901.4:c.87del NP_003892.2:p.Asn28_Tyr29insTer NC_000010.11:70844531:T: p.(Tyr29Ter) NC_000010.11:70844531:T: p.(Tyr29Ter) NC_000010.11:70844531:T: Analogous +NM_000038.6:c.1512T>C NP_000029.2:p.Ala504= NC_000005.10:112827210:T:C p.(Ala504=) NC_000005.10:112827210:T:C p.(Ala504=) NC_000005.10:112827210:T:C Identity +NM_001407944.1:c.3855A>G NP_001394873.1:p.Gly1285= NC_000017.11:43091534:T:C p.(Gly1285=) NC_000017.11:43091534:T:C p.(Gly1285=) NC_000017.11:43091534:T:C Identity +NM_000475.5:c.851TGGTGC[1] NP_000466.2:p.284LV[1] NC_000023.11:30308501:GCACCAGCACCAGC:GCACCAGC p.(Leu286_Val287del) NC_000023.11:30308512:A:GCACCA ERR:Parse ERR:Parse Analogous +NM_001165417.2:c.675C>T NP_001158889.1:p.Ala225= NC_000017.11:4938182:G:A p.(Ala225=) NC_000017.11:4938182:G:A p.(Ala225=) NC_000017.11:4938182:G:A Identity +NM_006269.2:c.2690_2695del NP_006260.1:p.Ser897_Lys899delinsTer NC_000008.11:54626571:CTTTGA: p.(Ser897Ter) NC_000008.11:54626571:CTTTGA: p.(Ser897Ter) NC_000008.11:54626571:CTTTGA: Analogous +NM_015629.4:c.1234del NP_056444.3:p.Gln411_Val412insTer NC_000019.10:54129142:GG:G p.(Val412Ter) NC_000019.10:54129142:GG:G p.(Val412Ter) NC_000019.10:54129143:G: Analogous +NM_000296.4:c.7470_7475del NP_000287.4:p.Lys2490_His2492delinsAsn NC_000016.10:2106411:TGCACCT:T p.(Lys2490_His2492delinsAsn) NC_000016.10:2106411:TGCACCT:T p.(Lys2490_His2492delinsAsn) NC_000016.10:2106411:TGCACC: Identity +NM_000540.3:c.13224_13235dup NP_000531.2:p.Ser4409_Ala4412dup NC_000019.10:38565555:GCCAGCGAGGGCGC:GCCAGCGAGGGCGCCAGCGAGGGCGC p.(Ser4409_Ala4412dup) NC_000019.10:38565555:GCCAGCGAGGGCGC:GCCAGCGAGGGCGCCAGCGAGGGCGC p.(Ser4409_Ala4412dup) ERR:SPDI Identity +NM_000532.5:c.48T>C NP_000523.2:p.Val16= NC_000003.12:136250422:T:C p.(Val16=) NC_000003.12:136250422:T:C p.(Val16=) NC_000003.12:136250422:T:C Identity +NM_001256850.1:c.32079C>T NP_001243779.1:p.Asp10693= NC_000002.12:178682760:G:A p.(Asp10693=) NC_000002.12:178682760:G:A p.(Asp10693=) NC_000002.12:178682760:G:A Identity +NM_000257.4:c.1491G>A NP_000248.2:p.Glu497= NC_000014.9:23428586:C:T p.(Glu497=) NC_000014.9:23428586:C:T p.(Glu497=) NC_000014.9:23428586:C:T Identity +NM_001377273.1:c.444A>G NP_001364202.1:p.Lys148= NC_000012.12:21917065:T:C p.(Lys148=) NC_000012.12:21917065:T:C p.(Lys148=) NC_000012.12:21917065:T:C Identity +LRG_131t1:c.738G>A LRG_131p1:p.Leu246= NC_000023.11:154420695:G:A ERR:Data provider error: ValueError: Transcript LRG_131t1 not found ERR:Data provider error: ValueError: Transcript LRG_131t1 not found ERR:AlignmentMapper(tx_ac=LRG_131t1, alt_ac=LRG_131t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_131t1, alt_ac=LRG_131t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_131t1 not found +NM_001040142.2:c.4302A>G NP_001035232.1:p.Ser1434= NC_000002.12:165377643:A:G p.(Ser1434=) NC_000002.12:165377643:A:G p.(Ser1434=) NC_000002.12:165377643:A:G Identity +NM_001362836.2:c.687G>A NP_001349765.1:p.Pro229= NC_000008.11:105798829:G:A p.(Pro229=) NC_000008.11:105798829:G:A p.(Pro229=) NC_000008.11:105798829:G:A Identity +NM_000540.3:c.13002G>A NP_000531.2:p.Ala4334= NC_000019.10:38565335:G:A p.(Ala4334=) NC_000019.10:38565335:G:A p.(Ala4334=) NC_000019.10:38565335:G:A Identity +NM_000540.3:c.9273C>T NP_000531.2:p.Gly3091= NC_000019.10:38512283:C:T p.(Gly3091=) NC_000019.10:38512283:C:T p.(Gly3091=) NC_000019.10:38512283:C:T Identity +NM_001033604.2:c.1113T>A NP_001028776.1:p.Val371= NC_000007.14:33336536:T:A p.(Val371=) NC_000007.14:33336536:T:A p.(Val371=) NC_000007.14:33336536:T:A Identity +NM_001206804.2:c.741C>T NP_001193733.1:p.Asp247= NC_000015.10:67692479:C:T p.(Asp247=) NC_000015.10:67692479:C:T p.(Asp247=) NC_000015.10:67692479:C:T Identity +NM_001257144.2:c.1623G>A NP_001244073.1:p.Thr541= NC_000012.12:31096737:G:A p.(Thr541=) NC_000012.12:31096737:G:A p.(Thr541=) NC_000012.12:31096737:G:A Identity +NM_024045.2:c.717C>T NP_076950.1:p.Ser239= NC_000010.11:68913238:C:T p.(Ser239=) NC_000010.11:68913238:C:T p.(Ser239=) NC_000010.11:68913238:C:T Identity +NM_001352890.3:c.957G>A NP_001339819.2:p.Pro319= NC_000008.11:141151719:G:A p.(Pro319=) NC_000008.11:141151719:G:A p.(Pro319=) NC_000008.11:141151719:G:A Identity +NM_003875.3:c.708G>A NP_003866.1:p.Thr236= NC_000003.12:155910872:G:A p.(Thr236=) NC_000003.12:155910872:G:A p.(Thr236=) NC_000003.12:155910872:G:A Identity +NM_001079520.2:c.2121C>T NP_001072988.1:p.Asp707= NC_000014.9:58646854:C:T p.(Asp707=) NC_000014.9:58646854:C:T p.(Asp707=) NC_000014.9:58646854:C:T Identity +NM_014579.4:c.561G>A NP_055394.2:p.Pro187= NC_000014.9:21001209:G:A p.(Pro187=) NC_000014.9:21001209:G:A p.(Pro187=) NC_000014.9:21001209:G:A Identity +NM_000879.3:c.312G>A NP_000870.1:p.Lys104= NC_000005.10:132541903:C:T p.(Lys104=) NC_000005.10:132541903:C:T p.(Lys104=) NC_000005.10:132541903:C:T Identity +NM_000435.3:c.1602C>T NP_000426.2:p.Ala534= NC_000019.10:15187884:G:A p.(Ala534=) NC_000019.10:15187884:G:A p.(Ala534=) NC_000019.10:15187884:G:A Identity +NM_001036.6:c.7248T>C NP_001027.3:p.Tyr2416= NC_000015.10:33731517:T:C p.(Tyr2416=) NC_000015.10:33731517:T:C p.(Tyr2416=) NC_000015.10:33731517:T:C Identity +NM_001286708.2:c.1905C>T NP_001273637.1:p.Leu635= NC_000004.12:184757685:G:A p.(Leu635=) NC_000004.12:184757685:G:A p.(Leu635=) NC_000004.12:184757685:G:A Identity +NM_001243027.3:c.210G>A NP_001229956.1:p.Thr70= NC_000019.10:40242578:C:T p.(Thr70=) NC_000019.10:40242578:C:T p.(Thr70=) NC_000019.10:40242578:C:T Identity +NM_001160103.2:c.441C>T NP_001153575.1:p.Tyr147= NC_000014.9:88572586:C:T p.(Tyr147=) NC_000014.9:88572586:C:T p.(Tyr147=) NC_000014.9:88572586:C:T Identity +NM_003482.4:c.7479G>C NP_003473.3:p.Gly2493= NC_000012.12:49040290:C:G p.(Gly2493=) NC_000012.12:49040290:C:G p.(Gly2493=) NC_000012.12:49040290:C:G Identity +NM_182974.3:c.19C>T NP_892019.2:p.Leu7= NC_000009.12:135639168:G:A p.(Leu7=) NC_000009.12:135639168:G:A p.(Leu7=) NC_000009.12:135639168:G:A Identity +NM_000316.3:c.1635G>A NP_000307.1:p.Leu545= NC_000003.12:46903508:G:A p.(Leu545=) NC_000003.12:46903508:G:A p.(Leu545=) NC_000003.12:46903508:G:A Identity +NM_024592.5:c.435C>T NP_078868.1:p.Phe145= NC_000004.12:55364143:C:T p.(Phe145=) NC_000004.12:55364143:C:T p.(Phe145=) NC_000004.12:55364143:C:T Identity +NM_004933.3:c.834G>T NP_004924.1:p.Val278= NC_000016.10:89188140:G:T p.(Val278=) NC_000016.10:89188140:G:T p.(Val278=) NC_000016.10:89188140:G:T Identity +NM_001371411.1:c.660T>A NP_001358340.1:p.Thr220= NC_000002.12:227699054:A:T p.(Thr220=) NC_000002.12:227699054:A:T p.(Thr220=) NC_000002.12:227699054:A:T Identity +NM_001278791.2:c.84T>A NP_001265720.1:p.Thr28= NC_000007.14:74246708:A:T p.(Thr28=) NC_000007.14:74246708:A:T p.(Thr28=) NC_000007.14:74246708:A:T Identity +NM_024721.5:c.3444C>T NP_078997.4:p.Ala1148= NC_000008.11:76842703:C:T p.(Ala1148=) NC_000008.11:76842703:C:T p.(Ala1148=) NC_000008.11:76842703:C:T Identity +NM_005189.3:c.537C>T NP_005180.1:p.Pro179= NC_000017.11:79783979:C:T p.(Pro179=) NC_000017.11:79783979:C:T p.(Pro179=) NC_000017.11:79783979:C:T Identity +NM_020655.4:c.1305G>A NP_065706.2:p.Pro435= NC_000016.10:87689664:G:A p.(Pro435=) NC_000016.10:87689664:G:A p.(Pro435=) NC_000016.10:87689664:G:A Identity +NM_000280.6:c.519G>T NP_000271.1:p.Thr173= NC_000011.10:31800694:C:A p.(Thr173=) NC_000011.10:31800694:C:A p.(Thr173=) NC_000011.10:31800694:C:A Identity +NM_000540.3:c.13708T>C NP_000531.2:p.Leu4570= NC_000019.10:38570654:T:C p.(Leu4570=) NC_000019.10:38570654:T:C p.(Leu4570=) NC_000019.10:38570654:T:C Identity +NM_001370192.1:c.303T>C NP_001357121.1:p.His101= NC_000023.11:70134636:T:C p.(His101=) NC_000023.11:70134636:T:C p.(His101=) NC_000023.11:70134636:T:C Identity +NM_001365068.1:c.672C>G NP_001351997.1:p.Thr224= NC_000009.12:117214700:G:C p.(Thr224=) NC_000009.12:117214700:G:C p.(Thr224=) NC_000009.12:117214700:G:C Identity +NM_000892.5:c.1140C>T NP_000883.2:p.Asn380= NC_000004.12:186251856:C:T p.(Asn380=) NC_000004.12:186251856:C:T p.(Asn380=) NC_000004.12:186251856:C:T Identity +NM_001287499.2:c.1872C>T NP_001274428.1:p.Thr624= NC_000007.14:2607129:C:T p.(Thr624=) NC_000007.14:2607129:C:T p.(Thr624=) NC_000007.14:2607129:C:T Identity +NM_003331.5:c.957A>G NP_003322.3:p.Thr319= NC_000019.10:10365570:T:C p.(Thr319=) NC_000019.10:10365570:T:C p.(Thr319=) NC_000019.10:10365570:T:C Identity +NM_001204397.2:c.474G>T NP_001191326.1:p.Pro158= NC_000004.12:110618604:C:A p.(Pro158=) NC_000004.12:110618604:C:A p.(Pro158=) NC_000004.12:110618604:C:A Identity +NM_000621.5:c.1098T>C NP_000612.1:p.Val366= NC_000013.11:46835154:A:G p.(Val366=) NC_000013.11:46835154:A:G p.(Val366=) NC_000013.11:46835154:A:G Identity +NM_001346445.2:c.3663A>G NP_001333374.1:p.Glu1221= NC_000011.10:62530753:T:C p.(Glu1221=) NC_000011.10:62530753:T:C p.(Glu1221=) NC_000011.10:62530753:T:C Identity +NM_001135746.3:c.420C>T NP_001129218.1:p.Ser140= NC_000008.11:11779878:C:T p.(Ser140=) NC_000008.11:11779878:C:T p.(Ser140=) NC_000008.11:11779878:C:T Identity +NM_001369346.1:c.4083T>C NP_001356275.1:p.Asp1361= NC_000002.12:25742079:A:G p.(Asp1361=) NC_000002.12:25742079:A:G p.(Asp1361=) NC_000002.12:25742079:A:G Identity +NM_001243999.2:c.33G>A NP_001230928.1:p.Gly11= NC_000019.10:50419954:G:A p.(Gly11=) NC_000019.10:50419954:G:A p.(Gly11=) NC_000019.10:50419954:G:A Identity +NM_005406.3:c.732A>G NP_005397.1:p.Glu244= NC_000018.10:21042652:T:C p.(Glu244=) NC_000018.10:21042652:T:C p.(Glu244=) NC_000018.10:21042652:T:C Identity +NM_001008274.4:c.807A>C NP_001008275.2:p.Ser269= NC_000016.10:31222892:A:C p.(Ser269=) NC_000016.10:31222892:A:C p.(Ser269=) NC_000016.10:31222892:A:C Identity +NM_000327.4:c.318T>C NP_000318.2:p.Ala106= NC_000011.10:62613598:T:C p.(Ala106=) NC_000011.10:62613598:T:C p.(Ala106=) NC_000011.10:62613598:T:C Identity +NM_001005407.2:c.3930C>A NP_001005407.1:p.Thr1310= NC_000016.10:1210453:C:A p.(Thr1310=) NC_000016.10:1210453:C:A p.(Thr1310=) NC_000016.10:1210453:C:A Identity +NM_000537.4:c.969G>T NP_000528.1:p.Val323= NC_000001.11:204155909:C:A p.(Val323=) NC_000001.11:204155909:C:A p.(Val323=) NC_000001.11:204155909:C:A Identity +NM_001352018.2:c.177G>A NP_001338947.1:p.Thr59= NC_000016.10:911017:C:T p.(Thr59=) NC_000016.10:911017:C:T p.(Thr59=) NC_000016.10:911017:C:T Identity +NM_001018011.3:c.1293G>A NP_001018011.1:p.Thr431= NC_000011.10:114156360:G:A p.(Thr431=) NC_000011.10:114156360:G:A p.(Thr431=) NC_000011.10:114156360:G:A Identity +NM_001168407.2:c.255C>T NP_001161879.1:p.Asp85= NC_000006.12:72235703:C:T p.(Asp85=) NC_000006.12:72235703:C:T p.(Asp85=) NC_000006.12:72235703:C:T Identity +NM_001288833.2:c.1404G>T NP_001275762.1:p.Val468= NC_000022.11:24628147:G:T p.(Val468=) NC_000022.11:24628147:G:T p.(Val468=) NC_000022.11:24628147:G:T Identity +NM_024837.4:c.1326G>A NP_079113.2:p.Ala442= NC_000015.10:49934143:C:T p.(Ala442=) NC_000015.10:49934143:C:T p.(Ala442=) NC_000015.10:49934143:C:T Identity +NM_001105247.2:c.288C>G NP_001098717.1:p.Ala96= NC_000016.10:31459811:C:G p.(Ala96=) NC_000016.10:31459811:C:G p.(Ala96=) NC_000016.10:31459811:C:G Identity +NM_178170.3:c.1842G>A NP_835464.1:p.Lys614= NC_000017.11:28741186:G:A p.(Lys614=) NC_000017.11:28741186:G:A p.(Lys614=) NC_000017.11:28741186:G:A Identity +NM_001170938.2:c.237C>T NP_001164409.1:p.Asn79= NC_000019.10:18436988:G:A p.(Asn79=) NC_000019.10:18436988:G:A p.(Asn79=) NC_000019.10:18436988:G:A Identity +NM_000514.4:c.345C>T NP_000505.1:p.Asn115= NC_000005.10:37815941:G:A p.(Asn115=) NC_000005.10:37815941:G:A p.(Asn115=) NC_000005.10:37815941:G:A Identity +NM_144563.3:c.615C>T NP_653164.2:p.Leu205= NC_000002.12:88736552:C:T p.(Leu205=) NC_000002.12:88736552:C:T p.(Leu205=) NC_000002.12:88736552:C:T Identity +NM_000562.3:c.477G>A NP_000553.1:p.Leu159= NC_000001.11:56881456:G:A p.(Leu159=) NC_000001.11:56881456:G:A p.(Leu159=) NC_000001.11:56881456:G:A Identity +NM_001375654.1:c.243G>A NP_001362583.1:p.Arg81= NC_000008.11:54621208:G:A p.(Arg81=) NC_000008.11:54621208:G:A p.(Arg81=) NC_000008.11:54621208:G:A Identity +NM_003749.3:c.2607C>A NP_003740.2:p.Pro869= NC_000013.11:109783446:G:T p.(Pro869=) NC_000013.11:109783446:G:T p.(Pro869=) NC_000013.11:109783446:G:T Identity +NM_198317.3:c.1797G>A NP_938073.1:p.Pro599= NC_000001.11:965058:G:A p.(Pro599=) NC_000001.11:965058:G:A p.(Pro599=) NC_000001.11:965058:G:A Identity +NM_001170535.3:c.672G>A NP_001164006.1:p.Glu224= NC_000001.11:1520297:G:A p.(Glu224=) NC_000001.11:1520297:G:A p.(Glu224=) NC_000001.11:1520297:G:A Identity +NM_001012957.2:c.2439G>A NP_001012975.1:p.Ala813= NC_000001.11:232036770:G:A p.(Ala813=) NC_000001.11:232036770:G:A p.(Ala813=) NC_000001.11:232036770:G:A Identity +NM_001166693.3:c.2208G>A NP_001160165.1:p.Val736= NC_000004.12:87115040:G:A p.(Val736=) NC_000004.12:87115040:G:A p.(Val736=) NC_000004.12:87115040:G:A Identity +NM_001105247.2:c.1740C>T NP_001098717.1:p.Leu580= NC_000016.10:31464762:C:T p.(Leu580=) NC_000016.10:31464762:C:T p.(Leu580=) NC_000016.10:31464762:C:T Identity +NM_001367830.1:c.1212C>T NP_001354759.1:p.Ile404= NC_000019.10:11243602:G:A p.(Ile404=) NC_000019.10:11243602:G:A p.(Ile404=) NC_000019.10:11243602:G:A Identity +NM_001309193.2:c.1704G>A NP_001296122.1:p.Arg568= NC_000001.11:22896416:G:A p.(Arg568=) NC_000001.11:22896416:G:A p.(Arg568=) NC_000001.11:22896416:G:A Identity +NM_001281786.2:c.339G>A NP_001268715.1:p.Val113= NC_000017.11:18340103:C:T p.(Val113=) NC_000017.11:18340103:C:T p.(Val113=) NC_000017.11:18340103:C:T Identity +NM_001040142.2:c.5289C>G NP_001035232.1:p.Ser1763= NC_000002.12:165389094:C:G p.(Ser1763=) NC_000002.12:165389094:C:G p.(Ser1763=) NC_000002.12:165389094:C:G Identity +NM_000474.4:c.177C>T NP_000465.1:p.Gly59= NC_000007.14:19117144:G:A p.(Gly59=) NC_000007.14:19117144:G:A p.(Gly59=) NC_000007.14:19117144:G:A Identity +NM_001378891.1:c.3678A>C NP_001365820.1:p.Thr1226= NC_000006.12:117357967:T:G p.(Thr1226=) NC_000006.12:117357967:T:G p.(Thr1226=) NC_000006.12:117357967:T:G Identity +NM_002449.5:c.495G>A NP_002440.2:p.Gln165= NC_000005.10:174729273:G:A p.(Gln165=) NC_000005.10:174729273:G:A p.(Gln165=) NC_000005.10:174729273:G:A Identity +NM_023037.3:c.7884C>T NP_075463.2:p.Ser2628= NC_000013.11:32265553:C:T p.(Ser2628=) NC_000013.11:32265553:C:T p.(Ser2628=) NC_000013.11:32265553:C:T Identity +NM_004752.4:c.291C>T NP_004743.1:p.Ser97= NC_000006.12:10877191:G:A p.(Ser97=) NC_000006.12:10877191:G:A p.(Ser97=) NC_000006.12:10877191:G:A Identity +NM_153365.3:c.1350G>A NP_699196.2:p.Leu450= NC_000004.12:16166756:C:T p.(Leu450=) NC_000004.12:16166756:C:T p.(Leu450=) NC_000004.12:16166756:C:T Identity +NM_000901.5:c.2193A>C NP_000892.2:p.Ser731= NC_000004.12:148154722:T:G p.(Ser731=) NC_000004.12:148154722:T:G p.(Ser731=) NC_000004.12:148154722:T:G Identity +NM_001243198.3:c.2487C>G NP_001230127.1:p.Gly829= NC_000007.14:75545107:G:C p.(Gly829=) NC_000007.14:75545107:G:C p.(Gly829=) NC_000007.14:75545107:G:C Identity +NM_001042576.2:c.918C>G NP_001036041.2:p.Ala306= NC_000020.11:17636696:G:C p.(Ala306=) NC_000020.11:17636696:G:C p.(Ala306=) NC_000020.11:17636696:G:C Identity +NM_001306079.2:c.1290G>T NP_001293008.1:p.Thr430= NC_000002.12:27224779:G:T p.(Thr430=) NC_000002.12:27224779:G:T p.(Thr430=) NC_000002.12:27224779:G:T Identity +NM_001007793.3:c.942C>T NP_001007794.1:p.Arg314= NC_000010.11:123162798:C:T p.(Arg314=) NC_000010.11:123162798:C:T p.(Arg314=) NC_000010.11:123162798:C:T Identity +NM_002472.3:c.351C>T NP_002463.2:p.Ile117= NC_000017.11:10418889:G:A p.(Ile117=) NC_000017.11:10418889:G:A p.(Ile117=) NC_000017.11:10418889:G:A Identity +NM_021833.5:c.552T>C NP_068605.1:p.Ser184= NC_000004.12:140563185:A:G p.(Ser184=) NC_000004.12:140563185:A:G p.(Ser184=) NC_000004.12:140563185:A:G Identity +NM_001282944.2:c.888C>G NP_001269873.1:p.Ala296= NC_000009.12:136421848:C:G p.(Ala296=) NC_000009.12:136421848:C:G p.(Ala296=) NC_000009.12:136421848:C:G Identity +NM_001114099.3:c.2112G>A NP_001107571.1:p.Pro704= NC_000016.10:29873405:C:T p.(Pro704=) NC_000016.10:29873405:C:T p.(Pro704=) NC_000016.10:29873405:C:T Identity +NM_002819.5:c.363G>A NP_002810.1:p.Leu121= NC_000019.10:804365:G:A p.(Leu121=) NC_000019.10:804365:G:A p.(Leu121=) NC_000019.10:804365:G:A Identity +NM_000453.3:c.984G>C NP_000444.1:p.Leu328= NC_000019.10:17880878:G:C p.(Leu328=) NC_000019.10:17880878:G:C p.(Leu328=) NC_000019.10:17880878:G:C Identity +NM_001351527.2:c.4209G>A NP_001338456.1:p.Glu1403= NC_000009.12:132327388:C:T p.(Glu1403=) NC_000009.12:132327388:C:T p.(Glu1403=) NC_000009.12:132327388:C:T Identity +NM_001355016.2:c.1956C>T NP_001341945.1:p.Tyr652= NC_000005.10:150123076:G:A p.(Tyr652=) NC_000005.10:150123076:G:A p.(Tyr652=) NC_000005.10:150123076:G:A Identity +NM_001033117.3:c.3060C>T NP_001028289.1:p.Ser1020= NC_000003.12:8985686:G:A p.(Ser1020=) NC_000003.12:8985686:G:A p.(Ser1020=) NC_000003.12:8985686:G:A Identity +NM_001278352.2:c.954G>A NP_001265281.1:p.Thr318= NC_000009.12:32421010:G:A p.(Thr318=) NC_000009.12:32421010:G:A p.(Thr318=) NC_000009.12:32421010:G:A Identity +NM_002291.3:c.1083G>A NP_002282.2:p.Val361= NC_000007.14:107975794:C:T p.(Val361=) NC_000007.14:107975794:C:T p.(Val361=) NC_000007.14:107975794:C:T Identity +NM_006269.2:c.3006A>G NP_006260.1:p.Glu1002= NC_000008.11:54626887:A:G p.(Glu1002=) NC_000008.11:54626887:A:G p.(Glu1002=) NC_000008.11:54626887:A:G Identity +NM_001164.5:c.666A>G NP_001155.1:p.Ser222= NC_000011.10:6410681:T:C p.(Ser222=) NC_000011.10:6410681:T:C p.(Ser222=) NC_000011.10:6410681:T:C Identity +NM_003080.3:c.1050C>T NP_003071.2:p.Ala350= NC_000006.12:109443682:C:T p.(Ala350=) NC_000006.12:109443682:C:T p.(Ala350=) NC_000006.12:109443682:C:T Identity +NM_007118.4:c.2106G>A NP_009049.2:p.Ser702= NC_000005.10:14358236:G:A p.(Ser702=) NC_000005.10:14358236:G:A p.(Ser702=) NC_000005.10:14358236:G:A Identity +NM_005233.6:c.744C>T NP_005224.2:p.Gly248= NC_000003.12:89210449:C:T p.(Gly248=) NC_000003.12:89210449:C:T p.(Gly248=) NC_000003.12:89210449:C:T Identity +NM_001290020.2:c.2257C>A NP_001276949.1:p.Arg753= NC_000010.11:27935247:G:T p.(Arg753=) NC_000010.11:27935247:G:T p.(Arg753=) NC_000010.11:27935247:G:T Identity +NM_001329434.2:c.1944G>C NP_001316363.2:p.Leu648= NC_000007.14:135606862:G:C p.(Leu648=) NC_000007.14:135606862:G:C p.(Leu648=) NC_000007.14:135606862:G:C Identity +NM_005588.3:c.1152T>C NP_005579.2:p.Asp384= NC_000006.12:46833080:T:C p.(Asp384=) NC_000006.12:46833080:T:C p.(Asp384=) NC_000006.12:46833080:T:C Identity +NM_000041.4:c.765G>A NP_000032.1:p.Ala255= NC_000019.10:44909060:G:A p.(Ala255=) NC_000019.10:44909060:G:A p.(Ala255=) NC_000019.10:44909060:G:A Identity +NM_004752.4:c.1089G>A NP_004743.1:p.Glu363= NC_000006.12:10874426:C:T p.(Glu363=) NC_000006.12:10874426:C:T p.(Glu363=) NC_000006.12:10874426:C:T Identity +NM_000537.4:c.1183C>A NP_000528.1:p.Arg395= NC_000001.11:204155053:G:T p.(Arg395=) NC_000001.11:204155053:G:T p.(Arg395=) NC_000001.11:204155053:G:T Identity +NM_020765.3:c.1146C>T NP_065816.2:p.Leu382= NC_000001.11:19192537:G:A p.(Leu382=) NC_000001.11:19192537:G:A p.(Leu382=) NC_000001.11:19192537:G:A Identity +NM_000888.5:c.717C>T NP_000879.2:p.Pro239= NC_000002.12:160174015:G:A p.(Pro239=) NC_000002.12:160174015:G:A p.(Pro239=) NC_000002.12:160174015:G:A Identity +NM_019108.4:c.366C>T NP_061981.2:p.Thr122= NC_000019.10:43747756:G:A p.(Thr122=) NC_000019.10:43747756:G:A p.(Thr122=) NC_000019.10:43747756:G:A Identity +NM_022719.3:c.510C>T NP_073210.1:p.Ala170= NC_000022.11:19139914:G:A p.(Ala170=) NC_000022.11:19139914:G:A p.(Ala170=) NC_000022.11:19139914:G:A Identity +NM_015295.3:c.3804C>T NP_056110.2:p.Ser1268= NC_000018.10:2747523:C:T p.(Ser1268=) NC_000018.10:2747523:C:T p.(Ser1268=) NC_000018.10:2747523:C:T Identity +NM_001316331.2:c.867C>A NP_001303260.1:p.Thr289= NC_000003.12:51987000:C:A p.(Thr289=) NC_000003.12:51987000:C:A p.(Thr289=) NC_000003.12:51987000:C:A Identity +NM_004975.4:c.2086A>C NP_004966.1:p.Arg696= NC_000020.11:49373473:T:G p.(Arg696=) NC_000020.11:49373473:T:G p.(Arg696=) NC_000020.11:49373473:T:G Identity +NM_000842.5:c.3150C>T NP_000833.1:p.Thr1050= NC_000011.10:88508984:G:A p.(Thr1050=) NC_000011.10:88508984:G:A p.(Thr1050=) NC_000011.10:88508984:G:A Identity +NM_002591.4:c.858C>T NP_002582.3:p.Ser286= NC_000020.11:57563623:C:T p.(Ser286=) NC_000020.11:57563623:C:T p.(Ser286=) NC_000020.11:57563623:C:T Identity +NM_002508.3:c.342C>T NP_002499.2:p.Thr114= NC_000001.11:236048872:G:A p.(Thr114=) NC_000001.11:236048872:G:A p.(Thr114=) NC_000001.11:236048872:G:A Identity +NM_000124.4:c.3057T>C NP_000115.1:p.Ser1019= NC_000010.11:49470987:A:G p.(Ser1019=) NC_000010.11:49470987:A:G p.(Ser1019=) NC_000010.11:49470987:A:G Identity +NM_000964.4:c.1299C>T NP_000955.1:p.Asp433= NC_000017.11:40356135:C:T p.(Asp433=) NC_000017.11:40356135:C:T p.(Asp433=) NC_000017.11:40356135:C:T Identity +NM_001150.3:c.1245C>A NP_001141.2:p.Ser415= NC_000015.10:89803936:G:T p.(Ser415=) NC_000015.10:89803936:G:T p.(Ser415=) NC_000015.10:89803936:G:T Identity +NM_001164741.2:c.237C>A NP_001158213.1:p.Gly79= NC_000023.11:153921639:G:T p.(Gly79=) NC_000023.11:153921639:G:T p.(Gly79=) NC_000023.11:153921639:G:T Identity +NM_001163809.2:c.141G>C NP_001157281.1:p.Pro47= NC_000017.11:1725099:G:C p.(Pro47=) NC_000017.11:1725099:G:C p.(Pro47=) NC_000017.11:1725099:G:C Identity +NM_173689.7:c.54G>T NP_775960.4:p.Leu18= NC_000009.12:123356313:G:T p.(Leu18=) NC_000009.12:123356313:G:T p.(Leu18=) NC_000009.12:123356313:G:T Identity +NM_003482.4:c.14283T>C NP_003473.3:p.Leu4761= NC_000012.12:49028926:A:G p.(Leu4761=) NC_000012.12:49028926:A:G p.(Leu4761=) NC_000012.12:49028926:A:G Identity +NM_001145648.3:c.2148C>T NP_001139120.1:p.Arg716= NC_000015.10:79004102:G:A p.(Arg716=) NC_000015.10:79004102:G:A p.(Arg716=) NC_000015.10:79004102:G:A Identity +NM_005763.4:c.1731C>T NP_005754.2:p.Ser577= NC_000007.14:122093082:G:A p.(Ser577=) NC_000007.14:122093082:G:A p.(Ser577=) NC_000007.14:122093082:G:A Identity +NM_001350859.2:c.208C>T NP_001337788.1:p.Leu70= NC_000003.12:134629686:G:A p.(Leu70=) NC_000003.12:134629686:G:A p.(Leu70=) NC_000003.12:134629686:G:A Identity +NM_004535.3:c.438C>T NP_004526.1:p.Ile146= NC_000020.11:64207633:C:T p.(Ile146=) NC_000020.11:64207633:C:T p.(Ile146=) NC_000020.11:64207633:C:T Identity +NM_016089.3:c.211C>T NP_057173.2:p.Leu71= NC_000003.12:48260926:C:T p.(Leu71=) NC_000003.12:48260926:C:T p.(Leu71=) NC_000003.12:48260926:C:T Identity +NM_001166691.2:c.615A>G NP_001160163.1:p.Ala205= NC_000006.12:80011434:A:G p.(Ala205=) NC_000006.12:80011434:A:G p.(Ala205=) NC_000006.12:80011434:A:G Identity +NM_000021.4:c.63C>T NP_000012.1:p.His21= NC_000014.9:73148081:C:T p.(His21=) NC_000014.9:73148081:C:T p.(His21=) NC_000014.9:73148081:C:T Identity +NM_001165962.2:c.2079C>T NP_001159434.1:p.Pro693= NC_000017.11:12993740:G:A p.(Pro693=) NC_000017.11:12993740:G:A p.(Pro693=) NC_000017.11:12993740:G:A Identity +NM_001364858.1:c.60C>T NP_001351787.1:p.Leu20= NC_000007.14:4783704:C:T p.(Leu20=) NC_000007.14:4783704:C:T p.(Leu20=) NC_000007.14:4783704:C:T Identity +NM_001159920.2:c.1701G>A NP_001153392.1:p.Pro567= NC_000013.11:28390063:C:T p.(Pro567=) NC_000013.11:28390063:C:T p.(Pro567=) NC_000013.11:28390063:C:T Identity +NM_002590.4:c.1617C>G NP_002581.2:p.Ala539= NC_000013.11:52846819:G:C p.(Ala539=) NC_000013.11:52846819:G:C p.(Ala539=) NC_000013.11:52846819:G:C Identity +NM_018968.4:c.693G>A NP_061841.2:p.Arg231= NC_000002.12:1209203:G:A p.(Arg231=) NC_000002.12:1209203:G:A p.(Arg231=) NC_000002.12:1209203:G:A Identity +NM_001271096.2:c.60G>A NP_001258025.1:p.Ala20= NC_000008.11:143824360:C:T p.(Ala20=) NC_000008.11:143824360:C:T p.(Ala20=) NC_000008.11:143824360:C:T Identity +NM_003730.6:c.660G>T NP_003721.2:p.Pro220= NC_000006.12:166929698:C:A p.(Pro220=) NC_000006.12:166929698:C:A p.(Pro220=) NC_000006.12:166929698:C:A Identity +NM_000365.6:c.717C>T NP_000356.1:p.Pro239= NC_000012.12:6870349:C:T p.(Pro239=) NC_000012.12:6870349:C:T p.(Pro239=) NC_000012.12:6870349:C:T Identity +NM_002033.4:c.108C>T NP_002024.1:p.Gly36= NC_000011.10:94544240:C:T p.(Gly36=) NC_000011.10:94544240:C:T p.(Gly36=) NC_000011.10:94544240:C:T Identity +NM_144666.3:c.13716G>C NP_653267.2:p.Ala4572= NC_000011.10:6571227:G:C p.(Ala4572=) NC_000011.10:6571227:G:C p.(Ala4572=) NC_000011.10:6571227:G:C Identity +NM_001128929.3:c.3279C>G NP_001122401.1:p.Pro1093= NC_000003.12:77607891:C:G p.(Pro1093=) NC_000003.12:77607891:C:G p.(Pro1093=) NC_000003.12:77607891:C:G Identity +NM_003718.5:c.993C>A NP_003709.3:p.Ala331= NC_000007.14:39951633:C:A p.(Ala331=) NC_000007.14:39951633:C:A p.(Ala331=) NC_000007.14:39951633:C:A Identity +NM_001293725.2:c.654T>C NP_001280654.1:p.Thr218= NC_000018.10:26274718:T:C p.(Thr218=) NC_000018.10:26274718:T:C p.(Thr218=) NC_000018.10:26274718:T:C Identity +NM_001290225.2:c.801A>G NP_001277154.1:p.Glu267= NC_000008.11:96330277:A:G p.(Glu267=) NC_000008.11:96330277:A:G p.(Glu267=) NC_000008.11:96330277:A:G Identity +NM_000720.4:c.672G>A NP_000711.1:p.Gly224= NC_000003.12:53660180:G:A p.(Gly224=) NC_000003.12:53660180:G:A p.(Gly224=) NC_000003.12:53660180:G:A Identity +NM_001206927.2:c.5160C>G NP_001193856.1:p.Ala1720= NC_000006.12:38848761:C:G p.(Ala1720=) NC_000006.12:38848761:C:G p.(Ala1720=) NC_000006.12:38848761:C:G Identity +NM_003140.3:c.346T>C NP_003131.1:p.Leu116= NC_000024.10:2787257:A:G p.(Leu116=) NC_000024.10:2787257:A:G p.(Leu116=) NC_000024.10:2787257:A:G Identity +NM_001278531.2:c.720C>T NP_001265460.1:p.Leu240= NC_000006.12:169759951:C:T p.(Leu240=) NC_000006.12:169759951:C:T p.(Leu240=) NC_000006.12:169759951:C:T Identity +NM_001003698.4:c.288C>T NP_001003698.1:p.Asp96= NC_000006.12:7189184:C:T p.(Asp96=) NC_000006.12:7189184:C:T p.(Asp96=) NC_000006.12:7189184:C:T Identity +NM_001287810.4:c.1575T>C NP_001274739.1:p.His525= NC_000015.10:22917886:A:G p.(His525=) NC_000015.10:22917886:A:G p.(His525=) NC_000015.10:22917886:A:G Identity +NM_144666.3:c.13983G>A NP_653267.2:p.Ala4661= NC_000011.10:6571706:G:A p.(Ala4661=) NC_000011.10:6571706:G:A p.(Ala4661=) NC_000011.10:6571706:G:A Identity +NM_001194937.2:c.1923C>T NP_001181866.1:p.Asn641= NC_000001.11:151408804:G:A p.(Asn641=) NC_000001.11:151408804:G:A p.(Asn641=) NC_000001.11:151408804:G:A Identity +NM_024949.6:c.2346G>A NP_079225.5:p.Lys782= NC_000004.12:183269108:G:A p.(Lys782=) NC_000004.12:183269108:G:A p.(Lys782=) NC_000004.12:183269108:G:A Identity +NM_001256850.1:c.41055T>C NP_001243779.1:p.Asn13685= NC_000002.12:178620542:A:G p.(Asn13685=) NC_000002.12:178620542:A:G p.(Asn13685=) NC_000002.12:178620542:A:G Identity +NM_000201.3:c.366C>G NP_000192.2:p.Pro122= NC_000019.10:10283514:C:G p.(Pro122=) NC_000019.10:10283514:C:G p.(Pro122=) NC_000019.10:10283514:C:G Identity +NM_017947.4:c.1482G>A NP_060417.4:p.Gly494= NC_000018.10:36215661:G:A p.(Gly494=) NC_000018.10:36215661:G:A p.(Gly494=) NC_000018.10:36215661:G:A Identity +NM_001284355.4:c.507A>G NP_001271284.1:p.Pro169= NC_000007.14:2708621:A:G p.(Pro169=) NC_000007.14:2708621:A:G p.(Pro169=) NC_000007.14:2708621:A:G Identity +NM_207581.4:c.561G>T NP_997464.2:p.Ala187= NC_000015.10:45117096:G:T p.(Ala187=) NC_000015.10:45117096:G:T p.(Ala187=) NC_000015.10:45117096:G:T Identity +NM_021110.4:c.1188C>T NP_066933.1:p.Asp396= NC_000008.11:120207090:C:T p.(Asp396=) NC_000008.11:120207090:C:T p.(Asp396=) NC_000008.11:120207090:C:T Identity +NM_016628.5:c.1917A>T NP_057712.2:p.Leu639= NC_000010.11:28619578:A:T p.(Leu639=) NC_000010.11:28619578:A:T p.(Leu639=) NC_000010.11:28619578:A:T Identity +NM_001135.4:c.2049A>G NP_001126.3:p.Pro683= NC_000015.10:88851815:A:G p.(Pro683=) NC_000015.10:88851815:A:G p.(Pro683=) NC_000015.10:88851815:A:G Identity +NM_003482.4:c.8424G>T NP_003473.3:p.Leu2808= NC_000012.12:49038931:C:A p.(Leu2808=) NC_000012.12:49038931:C:A p.(Leu2808=) NC_000012.12:49038931:C:A Identity +NM_002566.5:c.405C>T NP_002557.2:p.Phe135= NC_000019.10:10114017:C:T p.(Phe135=) NC_000019.10:10114017:C:T p.(Phe135=) NC_000019.10:10114017:C:T Identity +NM_001317227.2:c.666G>A NP_001304156.1:p.Leu222= NC_000005.10:21842308:C:T p.(Leu222=) NC_000005.10:21842308:C:T p.(Leu222=) NC_000005.10:21842308:C:T Identity +NM_001005862.3:c.501G>A NP_001005862.1:p.Pro167= NC_000017.11:39709828:G:A p.(Pro167=) NC_000017.11:39709828:G:A p.(Pro167=) NC_000017.11:39709828:G:A Identity +NM_016941.4:c.1461C>T NP_058637.1:p.Asp487= NC_000019.10:39507405:C:T p.(Asp487=) NC_000019.10:39507405:C:T p.(Asp487=) NC_000019.10:39507405:C:T Identity +NM_001301012.2:c.1230C>T NP_001287941.1:p.Asn410= NC_000006.12:133512928:C:T p.(Asn410=) NC_000006.12:133512928:C:T p.(Asn410=) NC_000006.12:133512928:C:T Identity +NM_016343.4:c.1605C>T NP_057427.3:p.Thr535= NC_000001.11:214639942:C:T p.(Thr535=) NC_000001.11:214639942:C:T p.(Thr535=) NC_000001.11:214639942:C:T Identity +NM_001318889.2:c.1101C>G NP_001305818.1:p.Ser367= NC_000003.12:111606712:C:G p.(Ser367=) NC_000003.12:111606712:C:G p.(Ser367=) NC_000003.12:111606712:C:G Identity +NM_001003698.4:c.765G>A NP_001003698.1:p.Ala255= NC_000006.12:7226523:G:A p.(Ala255=) NC_000006.12:7226523:G:A p.(Ala255=) NC_000006.12:7226523:G:A Identity +NM_001243198.3:c.816G>C NP_001230127.1:p.Leu272= NC_000007.14:75563250:C:G p.(Leu272=) NC_000007.14:75563250:C:G p.(Leu272=) NC_000007.14:75563250:C:G Identity +NM_001082578.4:c.99C>G NP_001076047.2:p.Pro33= NC_000022.11:36028326:G:C p.(Pro33=) NC_000022.11:36028326:G:C p.(Pro33=) NC_000022.11:36028326:G:C Identity +NM_001114978.2:c.150C>T NP_001108450.1:p.Leu50= NC_000003.12:189737826:C:T p.(Leu50=) NC_000003.12:189737826:C:T p.(Leu50=) NC_000003.12:189737826:C:T Identity +NM_015202.5:c.2418A>G NP_056017.4:p.Lys806= NC_000016.10:27740714:A:G p.(Lys806=) NC_000016.10:27740714:A:G p.(Lys806=) NC_000016.10:27740714:A:G Identity +NM_002292.4:c.3603G>A NP_002283.3:p.Val1201= NC_000003.12:49123921:C:T p.(Val1201=) NC_000003.12:49123921:C:T p.(Val1201=) NC_000003.12:49123921:C:T Identity +NM_001330575.2:c.852T>C NP_001317504.1:p.Asn284= NC_000008.11:90044988:T:C p.(Asn284=) NC_000008.11:90044988:T:C p.(Asn284=) NC_000008.11:90044988:T:C Identity +NM_001144878.2:c.423C>A NP_001138350.1:p.Thr141= NC_000008.11:81679181:G:T p.(Thr141=) NC_000008.11:81679181:G:T p.(Thr141=) NC_000008.11:81679181:G:T Identity +NM_001220488.2:c.900C>T NP_001207417.1:p.His300= NC_000016.10:83344983:C:T p.(His300=) NC_000016.10:83344983:C:T p.(His300=) NC_000016.10:83344983:C:T Identity +NM_001293306.2:c.4824C>T NP_001280235.2:p.Asn1608= NC_000003.12:38698392:G:A p.(Asn1608=) NC_000003.12:38698392:G:A p.(Asn1608=) NC_000003.12:38698392:G:A Identity +NM_020719.3:c.4533G>A NP_065770.1:p.Ser1511= NC_000019.10:49601677:G:A p.(Ser1511=) NC_000019.10:49601677:G:A p.(Ser1511=) NC_000019.10:49601677:G:A Identity +NM_014675.5:c.213A>G NP_055490.4:p.Thr71= NC_000001.11:16924340:A:G p.(Thr71=) NC_000001.11:16924340:A:G p.(Thr71=) NC_000001.11:16924340:A:G Identity +NM_001308047.2:c.5871_5882del NP_001294976.1:p.Glu1957_Gln1960del NC_000009.12:76706391:TCCTGACACTGCTC:TC p.(Glu1957_Gln1960del) NC_000009.12:76706391:TCCTGACACTGCTC:TC p.(Glu1957_Gln1960del) NC_000009.12:76706391:TCCTGACACTGC: Identity +NM_001134382.3:c.2976_2977= NP_001127854.1:p.Leu992_Pro993= NC_000003.12:12901350:GC:GC p.(Leu992_Pro993=) NC_000003.12:12901350:GC: p.(Leu992=) NC_000003.12:12901350:GC:GC Identity +NM_001005861.3:c.61= NP_001005861.1:p.Leu21= NC_000003.12:134250593:G:G p.(Leu21=) NC_000003.12:134250593:G: p.(Leu21=) NC_000003.12:134250593:G:G Identity +NM_001278694.2:c.507C>G NP_001265623.1:p.Leu169= NC_000014.9:105051629:G:C p.(Leu169=) NC_000014.9:105051629:G:C p.(Leu169=) NC_000014.9:105051629:G:C Identity +NM_001316332.2:c.156G>A NP_001303261.1:p.Val52= NC_000017.11:21300621:G:A p.(Val52=) NC_000017.11:21300621:G:A p.(Val52=) NC_000017.11:21300621:G:A Identity +NM_001034996.3:c.448GCT[15] NP_001030168.1:p.Ala155_Ala159dup NC_000003.12:40462029:CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT p.(Ala155_Ala159dup) NC_000003.12:40462031:G:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_020717.5:c.2172T>G NP_065768.2:p.Gly724= NC_000023.11:50633900:A:C p.(Gly724=) NC_000023.11:50633900:A:C p.(Gly724=) NC_000023.11:50633900:A:C Identity +NM_001207033.1:c.2493G>A NP_001193962.1:p.Leu831= NC_000016.10:30769506:A:A ERR:TranscriptMismatch:expected G, found A at transcript indices 3312..3313 NC_000016.10:30769506:A:A ERR:NM_001207033.1:c.2493G>A: Variant reference (G) does not agree with reference sequence (A) ERR:NM_001207033.1:c.2493G>A: Variant reference (G) does not agree with reference sequence (A) Unknown +NM_004759.5:c.51G>C NP_004750.1:p.Pro17= NC_000001.11:206685279:G:C p.(Pro17=) NC_000001.11:206685279:G:C p.(Pro17=) NC_000001.11:206685279:G:C Identity +NM_001320044.2:c.2559G>T NP_001306973.1:p.Ser853= NC_000003.12:47414631:C:A p.(Ser853=) NC_000003.12:47414631:C:A p.(Ser853=) NC_000003.12:47414631:C:A Identity +NM_030768.3:c.1080C>T NP_110395.1:p.Asp360= NC_000002.12:238170634:G:A p.(Asp360=) NC_000002.12:238170634:G:A p.(Asp360=) NC_000002.12:238170634:G:A Identity +NM_001297734.2:c.1422T>C NP_001284663.1:p.Asn474= NC_000019.10:57908852:A:G p.(Asn474=) NC_000019.10:57908852:A:G p.(Asn474=) NC_000019.10:57908852:A:G Identity +NM_024575.5:c.363C>G NP_078851.2:p.Thr121= NC_000001.11:151159059:C:G p.(Thr121=) NC_000001.11:151159059:C:G p.(Thr121=) NC_000001.11:151159059:C:G Identity +NM_153046.3:c.360= NP_694591.2:p.Thr120= NC_000014.9:103963115:A:A p.(Thr120=) NC_000014.9:103963115:A: p.(Thr120=) NC_000014.9:103963115:A:A Identity +NM_001170961.2:c.114= NP_001164432.1:p.Pro38= NC_000023.11:131286031:T:T p.(Pro38=) NC_000023.11:131286031:T: p.(Pro38=) NC_000023.11:131286031:T:T Identity +NM_032135.4:c.2032_2067del NP_115511.3:p.Ala678_Glu689del NC_000014.9:44504920:CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGCCTCCTCAGCTGGT:CTCCTCAGCTGGT p.(Ala678_Glu689del) NC_000014.9:44504920:CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGCCTCCTCAGCTGGT:CTCCTCAGCTGGT p.(Ala678_Glu689del) NC_000014.9:44504920:CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC: Identity +NM_002889.4:c.373C>A NP_002880.1:p.Arg125= NC_000007.14:150338987:G:T p.(Arg125=) NC_000007.14:150338987:G:T p.(Arg125=) NC_000007.14:150338987:G:T Identity +NM_001308047.2:c.3213C>A NP_001294976.1:p.Val1071= NC_000009.12:76709060:G:T p.(Val1071=) NC_000009.12:76709060:G:T p.(Val1071=) NC_000009.12:76709060:G:T Identity +NM_000435.3:c.3429C>T NP_000426.2:p.Arg1143= NC_000019.10:15179394:G:A p.(Arg1143=) NC_000019.10:15179394:G:A p.(Arg1143=) NC_000019.10:15179394:G:A Identity +NM_003872.3:c.1404= NP_003863.2:p.Val468= NC_000002.12:205743314:T:T p.(Val468=) NC_000002.12:205743314:T: p.(Val468=) NC_000002.12:205743314:T:T Identity +NM_001199739.2:c.738G>T NP_001186668.1:p.Val246= NC_000001.11:150747784:C:A p.(Val246=) NC_000001.11:150747784:C:A p.(Val246=) NC_000001.11:150747784:C:A Identity +NM_001145134.2:c.702C>T NP_001138606.1:p.Asp234= NC_000022.11:50574573:G:A p.(Asp234=) NC_000022.11:50574573:G:A p.(Asp234=) NC_000022.11:50574573:G:A Identity +NM_001146312.3:c.2721C>G NP_001139784.1:p.Gly907= NC_000017.11:12763403:C:G p.(Gly907=) NC_000017.11:12763403:C:G p.(Gly907=) NC_000017.11:12763403:C:G Identity +NM_001307977.1:c.21C>G NP_001294906.1:p.Arg7= NC_000011.10:62839549:G:C p.(Arg7=) NC_000011.10:62839549:G:C p.(Arg7=) NC_000011.10:62839549:G:C Identity +NM_001364716.4:c.6681G>A NP_001351645.2:p.Ala2227= NC_000017.11:17174005:G:A p.(Ala2227=) NC_000017.11:17174005:G:A p.(Ala2227=) NC_000017.11:17174005:G:A Identity +NM_001354571.2:c.471C>T NP_001341500.1:p.Asn157= NC_000003.12:186617244:C:T p.(Asn157=) NC_000003.12:186617244:C:T p.(Asn157=) NC_000003.12:186617244:C:T Identity +NM_001002838.4:c.2169C>A NP_001002838.1:p.Gly723= NC_000023.11:54255820:G:T p.(Gly723=) NC_000023.11:54255820:G:T p.(Gly723=) NC_000023.11:54255820:G:T Identity +NM_015557.3:c.5445G>A NP_056372.1:p.Thr1815= NC_000001.11:6109927:C:T p.(Thr1815=) NC_000001.11:6109927:C:T p.(Thr1815=) NC_000001.11:6109927:C:T Identity +NM_015419.4:c.7866T>A NP_056234.2:p.Ala2622= NC_000023.11:3310336:A:T p.(Ala2622=) NC_000023.11:3310336:A:T p.(Ala2622=) NC_000023.11:3310336:A:T Identity +NM_003245.4:c.913C>A NP_003236.3:p.Arg305= NC_000020.11:2317414:C:A p.(Arg305=) NC_000020.11:2317414:C:A p.(Arg305=) NC_000020.11:2317414:C:A Identity +NM_004977.3:c.150G>C NP_004968.2:p.Ala50= NC_000019.10:50328932:C:G p.(Ala50=) NC_000019.10:50328932:C:G p.(Ala50=) NC_000019.10:50328932:C:G Identity +NM_001145030.2:c.283_291dup NP_001138502.1:p.Ser95_Pro97dup NC_000003.12:44242333:CGTCAGACCCG:CGTCAGACCCGTCAGACCCG p.(Ser95_Pro97dup) NC_000003.12:44242333:CGTCAGACCCG:CGTCAGACCCGTCAGACCCG p.(Ser95_Pro97dup) ERR:SPDI Identity +NM_001098622.3:c.134_135insGCCGGAGCCGGTGTCAGC NP_001092092.1:p.Ala45_Leu46insProGluProValSerAla NC_000019.10:13877367:GGAGCCGGTGTCAGC:GGAGCCGGTGTCAGCGCCGGAGCCGGTGTCAGC p.(Ala45_Leu46insProGluProValSerAla) NC_000019.10:13877381:C:GCCGGAGCCGGTGTCAGC p.(Ala45_Leu46insProGluProValSerAla) NC_000019.10:13877382:CC:GCCGGAGCCGGTGTCAGC Identity +NM_001130414.1:c.1752C>T NP_001123886.1:p.Ile584= NC_000015.10:29106689:C:T p.(Ile584=) NC_000015.10:29106689:C:T p.(Ile584=) NC_000015.10:29106689:C:T Identity +NM_001370694.2:c.1281G>A NP_001357623.1:p.Thr427= NC_000002.12:241209556:G:A p.(Thr427=) NC_000002.12:241209556:G:A p.(Thr427=) NC_000002.12:241209556:G:A Identity +NM_182632.3:c.1032C>T NP_872438.2:p.Asp344= NC_000005.10:1242763:C:T p.(Asp344=) NC_000005.10:1242763:C:T p.(Asp344=) NC_000005.10:1242763:C:T Identity +NM_001199037.2:c.240C>T NP_001185966.1:p.Ala80= NC_000001.11:31424708:C:T p.(Ala80=) NC_000001.11:31424708:C:T p.(Ala80=) NC_000001.11:31424708:C:T Identity +NM_018938.4:c.1437G>A NP_061761.1:p.Ser479= NC_000005.10:141123434:G:A p.(Ser479=) NC_000005.10:141123434:G:A p.(Ser479=) NC_000005.10:141123434:G:A Identity +NM_005321.3:c.375G>T NP_005312.1:p.Ala125= NC_000006.12:26156764:G:T p.(Ala125=) NC_000006.12:26156764:G:T p.(Ala125=) NC_000006.12:26156764:G:T Identity +NM_002136.4:c.24A>G NP_002127.1:p.Lys8= NC_000012.12:54281393:A:G p.(Lys8=) NC_000012.12:54281393:A:G p.(Lys8=) NC_000012.12:54281393:A:G Identity +NM_001317227.2:c.639C>G NP_001304156.1:p.Pro213= NC_000005.10:21854677:G:C p.(Pro213=) NC_000005.10:21854677:G:C p.(Pro213=) NC_000005.10:21854677:G:C Identity +NM_001004019.2:c.171G>A NP_001004019.1:p.Thr57= NC_000003.12:13570525:G:A p.(Thr57=) NC_000003.12:13570525:G:A p.(Thr57=) NC_000003.12:13570525:G:A Identity +NM_006482.3:c.33C>T NP_006473.2:p.Pro11= NC_000012.12:67649165:C:T p.(Pro11=) NC_000012.12:67649165:C:T p.(Pro11=) NC_000012.12:67649165:C:T Identity +NM_018557.3:c.4179C>T NP_061027.2:p.Phe1393= NC_000002.12:140868253:G:A p.(Phe1393=) NC_000002.12:140868253:G:A p.(Phe1393=) NC_000002.12:140868253:G:A Identity +NM_007118.4:c.6912_6929dup NP_009049.2:p.2301_2306GSGGGG[3] NC_000005.10:14487525:GGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGG:GGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGG p.(Gly2307_Gly2312dup) NC_000005.10:14487525:GGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGG:GGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGGGGGTGGGGGCAGCGGCGG p.(Gly2307_Gly2312dup) ERR:SPDI Analogous +NM_004538.6:c.169_189del NP_004529.2:p.Gly57_Ser63del NC_000023.11:93673115:GCTGCTGCTGCTGCCGCTGCCGCTGCTGCTGC:GCTGCTGCTGC p.(Gly57_Ser63del) NC_000023.11:93673115:GCTGCTGCTGCTGCCGCTGCCGCTGCTGCTGC:GCTGCTGCTGC p.(Gly57_Ser63del) NC_000023.11:93673115:GCTGCTGCTGCTGCCGCTGCC: Identity +NM_001278273.2:c.108T>A NP_001265202.1:p.Pro36= NC_000007.14:105203715:A:T p.(Pro36=) NC_000007.14:105203715:A:T p.(Pro36=) NC_000007.14:105203715:A:T Identity +NM_001350748.2:c.3813A>C NP_001337677.1:p.Ala1271= NC_000013.11:101082847:T:G p.(Ala1271=) NC_000013.11:101082847:T:G p.(Ala1271=) NC_000013.11:101082847:T:G Identity +NM_019074.4:c.1728G>A NP_061947.1:p.Lys576= NC_000015.10:40936714:G:A p.(Lys576=) NC_000015.10:40936714:G:A p.(Lys576=) NC_000015.10:40936714:G:A Identity +NM_001322033.2:c.165C>G NP_001308962.1:p.Thr55= NC_000019.10:38700601:C:G p.(Thr55=) NC_000019.10:38700601:C:G p.(Thr55=) NC_000019.10:38700601:C:G Identity +NM_001309192.2:c.240C>A NP_001296121.1:p.Arg80= NC_000001.11:22784504:C:A p.(Arg80=) NC_000001.11:22784504:C:A p.(Arg80=) NC_000001.11:22784504:C:A Identity +NM_014053.4:c.690G>A NP_054772.1:p.Gly230= NC_000001.11:212859141:G:A p.(Gly230=) NC_000001.11:212859141:G:A p.(Gly230=) NC_000001.11:212859141:G:A Identity +NM_001199455.1:c.1149G>C NP_001186384.1:p.Leu383= NC_000006.12:32976884:G:C p.(Leu383=) NC_000006.12:32976884:G:C p.(Leu383=) NC_000006.12:32976884:G:C Identity +NM_015512.5:c.3312T>C NP_056327.4:p.Pro1104= NC_000003.12:52353464:T:C p.(Pro1104=) NC_000003.12:52353464:T:C p.(Pro1104=) NC_000003.12:52353464:T:C Identity +NM_001159587.3:c.2997C>T NP_001153059.1:p.Ala999= NC_000006.12:73806879:C:T p.(Ala999=) NC_000006.12:73806879:C:T p.(Ala999=) NC_000006.12:73806879:C:T Identity +NM_003749.3:c.1113G>A NP_003740.2:p.Ala371= NC_000013.11:109784940:C:T p.(Ala371=) NC_000013.11:109784940:C:T p.(Ala371=) NC_000013.11:109784940:C:T Identity +NM_001146189.1:c.2997C>T NP_001139661.1:p.Phe999= NC_000018.10:74634015:C:T p.(Phe999=) NC_000018.10:74634015:C:T p.(Phe999=) NC_000018.10:74634015:C:T Identity +NM_001958.5:c.1266C>G NP_001949.1:p.Gly422= NC_000020.11:63488423:G:C p.(Gly422=) NC_000020.11:63488423:G:C p.(Gly422=) NC_000020.11:63488423:G:C Identity +NM_001282531.3:c.1635T>C NP_001269460.1:p.Asp545= NC_000020.11:50893078:A:G p.(Asp545=) NC_000020.11:50893078:A:G p.(Asp545=) NC_000020.11:50893078:A:G Identity +NM_001257361.2:c.1539C>T NP_001244290.1:p.Ser513= NC_000001.11:109629358:C:T p.(Ser513=) NC_000001.11:109629358:C:T p.(Ser513=) NC_000001.11:109629358:C:T Identity +NM_001282683.2:c.1029C>T NP_001269612.1:p.Thr343= NC_000016.10:87331362:G:A p.(Thr343=) NC_000016.10:87331362:G:A p.(Thr343=) NC_000016.10:87331362:G:A Identity +NM_001281463.1:c.3549T>A NP_001268392.1:p.Pro1183= NC_000023.11:53380622:A:T p.(Pro1183=) NC_000023.11:53380622:A:T p.(Pro1183=) NC_000023.11:53380622:A:T Identity +NM_001372305.1:c.606G>A NP_001359234.1:p.Ala202= NC_000019.10:50328248:C:T p.(Ala202=) NC_000019.10:50328248:C:T p.(Ala202=) NC_000019.10:50328248:C:T Identity +NM_006662.3:c.6891G>T NP_006653.2:p.Arg2297= NC_000016.10:30736360:G:T p.(Arg2297=) NC_000016.10:30736360:G:T p.(Arg2297=) NC_000016.10:30736360:G:T Identity +NM_001256850.1:c.12615A>G NP_001243779.1:p.Pro4205= NC_000002.12:178739666:T:C p.(Pro4205=) NC_000002.12:178739666:T:C p.(Pro4205=) NC_000002.12:178739666:T:C Identity +NM_001164410.3:c.732A>C NP_001157882.1:p.Ser244= NC_000007.14:151054059:T:G p.(Ser244=) NC_000007.14:151054059:T:G p.(Ser244=) NC_000007.14:151054059:T:G Identity +NM_001310159.1:c.1035A>G NP_001297088.1:p.Val345= NC_000011.10:31793434:T:C p.(Val345=) NC_000011.10:31793434:T:C p.(Val345=) NC_000011.10:31793434:T:C Identity +NM_001024024.2:c.26_27insTCT NP_001019195.1:p.Pro9_Ala10insLeu NC_000014.9:54902637::AGA p.(Pro9_Ala10insLeu) NC_000014.9:54902636:C:AGA p.(Pro9_Ala10insLeu) NC_000014.9:54902637:CG:AGA Identity +NM_000087.5:c.762G>A NP_000078.3:p.Leu254= NC_000004.12:47937719:C:T p.(Leu254=) NC_000004.12:47937719:C:T p.(Leu254=) NC_000004.12:47937719:C:T Identity +NM_000927.5:c.732C>A NP_000918.2:p.Leu244= NC_000007.14:87561357:G:T p.(Leu244=) NC_000007.14:87561357:G:T p.(Leu244=) NC_000007.14:87561357:G:T Identity +NM_024675.4:c.1465_1470del NP_078951.2:p.Ser489_Pro490del NC_000016.10:23635075:GGGAGAG:G p.(Ser489_Pro490del) NC_000016.10:23635075:GGGAGAG:G p.(Ser489_Pro490del) NC_000016.10:23635075:GGGAGA: Identity +NM_000106.6:c.408= NP_000097.3:p.Val136= NC_000022.11:42129129:C:C p.(Val136=) NC_000022.11:42129129:C: p.(Val136=) NC_000022.11:42129129:C:C Identity +NM_001282512.3:c.15G>A NP_001269441.1:p.Ala5= NC_000022.11:19941788:C:T p.(Ala5=) NC_000022.11:19941788:C:T p.(Ala5=) NC_000022.11:19941788:C:T Identity +NM_001385640.1:c.1519= NP_001372569.1:p.Trp507= NC_000001.11:942450:T:T p.(Trp507=) NC_000001.11:942450:T: p.(Trp507=) NC_000001.11:942450:T:T Identity +NM_001308093.3:c.526GCC[1] NP_001295022.1:p.Ala177_Ala179del NC_000008.11:11708837:GCCGCCGCCGCC:GCC p.(Ala177_Ala179del) NC_000008.11:11708837:G:GCC ERR:Parse ERR:Parse Identity +NM_001031737.3:c.267G>A NP_001026907.2:p.Glu89= NC_000016.10:725793:C:T p.(Glu89=) NC_000016.10:725793:C:T p.(Glu89=) NC_000016.10:725793:C:T Identity +NM_000518.5:c.176dup NP_000509.1:p.Pro59_Lys60insTer NC_000011.10:5226715:GGG:GGGG p.(Lys60Ter) NC_000011.10:5226715:GGG:GGGG p.(Lys60Ter) ERR:SPDI Analogous +NM_001846.4:c.2187G>T NP_001837.2:p.Gly729= NC_000013.11:110469307:G:T p.(Gly729=) NC_000013.11:110469307:G:T p.(Gly729=) NC_000013.11:110469307:G:T Identity +NM_007374.3:c.714G>T NP_031400.2:p.Thr238= NC_000014.9:60511224:G:T p.(Thr238=) NC_000014.9:60511224:G:T p.(Thr238=) NC_000014.9:60511224:G:T Identity +NM_016941.4:c.1362T>C NP_058637.1:p.Ala454= NC_000019.10:39507306:T:C p.(Ala454=) NC_000019.10:39507306:T:C p.(Ala454=) NC_000019.10:39507306:T:C Identity +NM_015657.4:c.5316G>T NP_056472.2:p.Gly1772= NC_000002.12:214955324:C:A p.(Gly1772=) NC_000002.12:214955324:C:A p.(Gly1772=) NC_000002.12:214955324:C:A Identity +NM_001164317.2:c.6288G>T NP_001157789.1:p.Val2096= NC_000003.12:58149952:G:T p.(Val2096=) NC_000003.12:58149952:G:T p.(Val2096=) NC_000003.12:58149952:G:T Identity +NM_000406.3:c.399G>A NP_000397.1:p.Val133= NC_000004.12:67753936:C:T p.(Val133=) NC_000004.12:67753936:C:T p.(Val133=) NC_000004.12:67753936:C:T Identity +NM_000416.3:c.231C>T NP_000407.1:p.Cys77= NC_000006.12:137206277:G:A p.(Cys77=) NC_000006.12:137206277:G:A p.(Cys77=) NC_000006.12:137206277:G:A Identity +NM_001145853.1:c.837T>C NP_001139325.1:p.Pro279= NC_000004.12:6295164:T:C p.(Pro279=) NC_000004.12:6295164:T:C p.(Pro279=) NC_000004.12:6295164:T:C Identity +NM_000287.4:c.2697A>G NP_000278.3:p.Val899= NC_000006.12:42964898:T:C p.(Val899=) NC_000006.12:42964898:T:C p.(Val899=) NC_000006.12:42964898:T:C Identity +NM_181882.3:c.2424G>A NP_870998.2:p.Lys808= NC_000019.10:40395927:C:T p.(Lys808=) NC_000019.10:40395927:C:T p.(Lys808=) NC_000019.10:40395927:C:T Identity +NM_001407638.1:c.4710T>G NP_001394567.1:p.Ser1570= NC_000017.11:43071197:A:C p.(Ser1570=) NC_000017.11:43071197:A:C p.(Ser1570=) NC_000017.11:43071197:A:C Identity +NM_000218.3:c.573G>T NP_000209.2:p.Leu191= NC_000011.10:2570722:G:T p.(Leu191=) NC_000011.10:2570722:G:T p.(Leu191=) NC_000011.10:2570722:G:T Identity +NM_000238.4:c.1410C>T NP_000229.1:p.Asn470= NC_000007.14:150952571:G:A p.(Asn470=) NC_000007.14:150952571:G:A p.(Asn470=) NC_000007.14:150952571:G:A Identity +NM_001024847.3:c.417A>G NP_001020018.1:p.Glu139= NC_000003.12:30650347:A:G p.(Glu139=) NC_000003.12:30650347:A:G p.(Glu139=) NC_000003.12:30650347:A:G Identity +NM_000527.5:c.759G>A NP_000518.1:p.Arg253= NC_000019.10:11106628:G:A p.(Arg253=) NC_000019.10:11106628:G:A p.(Arg253=) NC_000019.10:11106628:G:A Identity +NM_000090.4:c.1125A>T NP_000081.2:p.Gly375= NC_000002.12:188993434:A:T p.(Gly375=) NC_000002.12:188993434:A:T p.(Gly375=) NC_000002.12:188993434:A:T Identity +NM_001407240.1:c.675C>T NP_001394169.1:p.Leu225= NC_000001.11:55052305:C:T p.(Leu225=) NC_000001.11:55052305:C:T p.(Leu225=) NC_000001.11:55052305:C:T Identity +LRG_1401t2:c.2002C>T LRG_1401p2:p.Leu668= NC_000016.10:15750214:G:A ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found +NM_000238.4:c.165G>A NP_000229.1:p.Ser55= NC_000007.14:150974852:C:T p.(Ser55=) NC_000007.14:150974852:C:T p.(Ser55=) NC_000007.14:150974852:C:T Identity +NM_001141945.3:c.399C>T NP_001135417.1:p.Ala133= NC_000010.11:88941839:G:A p.(Ala133=) NC_000010.11:88941839:G:A p.(Ala133=) NC_000010.11:88941839:G:A Identity +LRG_1401t2:c.2898G>A LRG_1401p2:p.Leu966= NC_000016.10:15740170:C:T ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found +NM_000218.3:c.1443A>G NP_000209.2:p.Arg481= NC_000011.10:2662009:A:G p.(Arg481=) NC_000011.10:2662009:A:G p.(Arg481=) NC_000011.10:2662009:A:G Identity +NM_000307.5:c.285T>C NP_000298.3:p.His95= NC_000023.11:83508608:T:C p.(His95=) NC_000023.11:83508608:T:C p.(His95=) NC_000023.11:83508608:T:C Identity +NM_001382235.1:c.2326_2340del NP_001369164.1:p.Gly776_Ser780del NC_000020.11:63406976:GCTGGCGCGGTTGCC: p.(Gly776_Ser780del) NC_000020.11:63406976:GCTGGCGCGGTTGCC: p.(Gly776_Ser780del) NC_000020.11:63406976:GCTGGCGCGGTTGCC: Identity +NM_000248.4:c.487C>T NP_000239.1:p.Leu163= NC_000003.12:69949095:C:T p.(Leu163=) NC_000003.12:69949095:C:T p.(Leu163=) NC_000003.12:69949095:C:T Identity +NM_000314.8:c.972_977del NP_000305.3:p.Leu325_Asp326del NC_000010.11:87961060:TGATCTTGA:TGA p.(Leu325_Asp326del) NC_000010.11:87961060:TGATCTTGA:TGA p.(Leu325_Asp326del) NC_000010.11:87961063:TCTTGA: Identity +NM_001285829.2:c.581_582insTCT NP_001272758.1:p.Lys194delinsAsnLeu NC_000019.10:33301476::AGA p.(Lys194delinsAsnLeu) NC_000019.10:33301475:C:AGA p.(Lys194delinsAsnLeu) NC_000019.10:33301476:CT:AGA Identity +NM_000101.4:c.422_427del NP_000092.2:p.Arg141_Pro142del NC_000016.10:88643513:GCGGCCGC:GC p.(Arg141_Pro142del) NC_000016.10:88643513:GCGGCCGC:GC p.(Arg141_Pro142del) NC_000016.10:88643513:GCGGCC: Identity +NM_001961.4:c.1896G>A NP_001952.1:p.Ala632= NC_000019.10:3977989:C:T p.(Ala632=) NC_000019.10:3977989:C:T p.(Ala632=) NC_000019.10:3977989:C:T Identity +NM_001135.4:c.1120_1123del NP_001126.3:p.Gln373_Thr374insTer NC_000015.10:88845569:CAGACAG:CAG p.(Thr374Ter) NC_000015.10:88845569:CAGACAG:CAG p.(Thr374Ter) NC_000015.10:88845572:ACAG: Analogous +NM_001144769.5:c.6879T>A NP_001138241.1:p.Ile2293= NC_000006.12:56573678:A:T p.(Ile2293=) NC_000006.12:56573678:A:T p.(Ile2293=) NC_000006.12:56573678:A:T Identity +NM_001164665.2:c.4264_4269del NP_001158137.1:p.Glu1422_Glu1423del NC_000007.14:138879613:CTCTTC: p.(Glu1422_Glu1423del) NC_000007.14:138879613:CTCTTC: p.(Glu1422_Glu1423del) NC_000007.14:138879613:CTCTTC: Identity +NM_001146056.3:c.630C>G NP_001139528.1:p.Pro210= NC_000019.10:54180777:G:C p.(Pro210=) NC_000019.10:54180777:G:C p.(Pro210=) NC_000019.10:54180777:G:C Identity +NM_001277126.2:c.2037_2039dup NP_001264055.1:p.Arg679_Cys680insTrp NC_000019.10:53809619:CACC:CACCACC p.(Arg679_Cys680insTrp) NC_000019.10:53809619:CACC:CACCACC p.(Arg679_Cys680insTrp) ERR:SPDI Identity +LRG_1349t1:c.126_152del LRG_1349p1:p.Ala43_Ala51del NC_000007.14:27199925:GCAGCCGCCGCCGCTGCAGCCGCTGCTGCAGCCGCCGCCGC:GCAGCCGCCGCCGC ERR:Data provider error: ValueError: Transcript LRG_1349t1 not found ERR:Data provider error: ValueError: Transcript LRG_1349t1 not found ERR:AlignmentMapper(tx_ac=LRG_1349t1, alt_ac=LRG_1349t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1349t1, alt_ac=LRG_1349t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1349t1 not found +NM_001407571.1:c.1218A>G NP_001394500.1:p.Val406= NC_000017.11:43094099:T:C p.(Val406=) NC_000017.11:43094099:T:C p.(Val406=) NC_000017.11:43094099:T:C Identity +NM_003482.4:c.6073_6086del NP_003473.3:p.Ala2024_Asn2025insTer NC_000012.12:49042111:GGAAAATTAATGTTGG:GG p.(Asn2025Ter) NC_000012.12:49042111:GGAAAATTAATGTTGG:GG p.(Asn2025Ter) NC_000012.12:49042111:GGAAAATTAATGTT: Analogous +NM_001082486.2:c.201C>T NP_001075955.2:p.Val67= NC_000016.10:67659943:G:A p.(Val67=) NC_000016.10:67659943:G:A p.(Val67=) NC_000016.10:67659943:G:A Identity +NM_001386500.1:c.5859G>C NP_001373429.1:p.Val1953= NC_000001.11:11128504:C:G p.(Val1953=) NC_000001.11:11128504:C:G p.(Val1953=) NC_000001.11:11128504:C:G Identity +NM_001256850.1:c.57168C>T NP_001243779.1:p.Gly19056= NC_000002.12:178589633:G:A p.(Gly19056=) NC_000002.12:178589633:G:A p.(Gly19056=) NC_000002.12:178589633:G:A Identity +NM_000489.6:c.7320G>A NP_000480.3:p.Lys2440= NC_000023.11:77508509:C:T p.(Lys2440=) NC_000023.11:77508509:C:T p.(Lys2440=) NC_000023.11:77508509:C:T Identity +NM_000744.7:c.177G>T NP_000735.1:p.Ser59= NC_000020.11:63359598:C:A p.(Ser59=) NC_000020.11:63359598:C:A p.(Ser59=) NC_000020.11:63359598:C:A Identity +NM_001160302.2:c.1017T>C NP_001153774.1:p.Val339= NC_000021.9:32685848:A:G p.(Val339=) NC_000021.9:32685848:A:G p.(Val339=) NC_000021.9:32685848:A:G Identity +NM_000138.5:c.6444C>T NP_000129.3:p.Ser2148= NC_000015.10:48437012:G:A p.(Ser2148=) NC_000015.10:48437012:G:A p.(Ser2148=) NC_000015.10:48437012:G:A Identity +NM_000335.5:c.3894C>T NP_000326.2:p.Ile1298= NC_000003.12:38562480:G:A p.(Ile1298=) NC_000003.12:38562480:G:A p.(Ile1298=) NC_000003.12:38562480:G:A Identity +LRG_779t1:c.723T>C LRG_779p1:p.Cys241= NC_000003.12:30671830:T:C ERR:Data provider error: ValueError: Transcript LRG_779t1 not found ERR:Data provider error: ValueError: Transcript LRG_779t1 not found ERR:AlignmentMapper(tx_ac=LRG_779t1, alt_ac=LRG_779t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_779t1, alt_ac=LRG_779t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_779t1 not found +NM_000138.5:c.7086A>G NP_000129.3:p.Glu2362= NC_000015.10:48427684:T:C p.(Glu2362=) NC_000015.10:48427684:T:C p.(Glu2362=) NC_000015.10:48427684:T:C Identity +NM_000543.5:c.1167T>G NP_000534.3:p.Arg389= NC_000011.10:6393290:T:G p.(Arg389=) NC_000011.10:6393290:T:G p.(Arg389=) NC_000011.10:6393290:T:G Identity +NM_000322.5:c.711_722del NP_000313.2:p.Asp237_Thr240del NC_000006.12:42704470:TCCGTCTGGTGGTC:TC p.(Asp237_Thr240del) NC_000006.12:42704470:TCCGTCTGGTGGTC:TC p.(Asp237_Thr240del) NC_000006.12:42704470:TCCGTCTGGTGG: Identity +NM_001080517.3:c.759_760del NP_001073986.1:p.Ile253_Asn254insTer NC_000003.12:9440646:TA: p.(Asn254Ter) NC_000003.12:9440646:TA: p.(Asn254Ter) NC_000003.12:9440646:TA: Analogous +NM_032638.5:c.1066_1095del NP_116027.2:p.Thr356_Asn365del NC_000003.12:128481866:GTTGGCGTTTCGGCGCCATAAGGTGGTGGT: p.(Thr356_Asn365del) NC_000003.12:128481866:GTTGGCGTTTCGGCGCCATAAGGTGGTGGT: p.(Thr356_Asn365del) NC_000003.12:128481866:GTTGGCGTTTCGGCGCCATAAGGTGGTGGT: Identity +NM_080679.3:c.2337G>A NP_542410.2:p.Gly779= NC_000006.12:33173525:C:T p.(Gly779=) NC_000006.12:33173525:C:T p.(Gly779=) NC_000006.12:33173525:C:T Identity +NM_032229.3:c.1647C>T NP_115605.2:p.Pro549= NC_000013.11:85794861:G:A p.(Pro549=) NC_000013.11:85794861:G:A p.(Pro549=) NC_000013.11:85794861:G:A Identity +NM_001365276.2:c.11175C>T NP_001352205.1:p.Ser3725= NC_000006.12:32044468:G:A p.(Ser3725=) NC_000006.12:32044468:G:A p.(Ser3725=) NC_000006.12:32044468:G:A Identity +NM_001256850.1:c.2486_2491del NP_001243779.1:p.Gly829_Tyr830del NC_000002.12:178785621:CATATCCAT:CAT p.(Gly829_Tyr830del) NC_000002.12:178785621:CATATCCAT:CAT p.(Gly829_Tyr830del) NC_000002.12:178785621:CATATC: Identity +NM_001363864.1:c.324G>A NP_001350793.1:p.Glu108= NC_000002.12:60546031:C:T p.(Glu108=) NC_000002.12:60546031:C:T p.(Glu108=) NC_000002.12:60546031:C:T Identity +NM_000806.5:c.876C>A NP_000797.2:p.Thr292= NC_000005.10:161895684:C:A p.(Thr292=) NC_000005.10:161895684:C:A p.(Thr292=) NC_000005.10:161895684:C:A Identity +NM_007118.4:c.2019A>T NP_009049.2:p.Ser673= NC_000005.10:14336699:A:T p.(Ser673=) NC_000005.10:14336699:A:T p.(Ser673=) NC_000005.10:14336699:A:T Identity +LRG_1247t1:c.2022G>A LRG_1247p1:p.Leu674= NC_000007.14:4790755:G:A ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found +NM_001256850.1:c.93780C>T NP_001243779.1:p.Ser31260= NC_000002.12:178539231:G:A p.(Ser31260=) NC_000002.12:178539231:G:A p.(Ser31260=) NC_000002.12:178539231:G:A Identity +NM_000346.4:c.445_453del NP_000337.1:p.Ser149_Lys151del NC_000017.11:72122729:AGAGCGAGAAG:AG p.(Ser149_Lys151del) NC_000017.11:72122729:AGAGCGAGAAG:AG p.(Ser149_Lys151del) NC_000017.11:72122731:AGCGAGAAG: Identity +NM_001126131.2:c.151_152insCAGCAG NP_001119603.1:p.Gln51delinsProAlaGlu NC_000015.10:89333603::CTGCTG p.(Gln51delinsProAlaGlu) NC_000015.10:89333602:T:CTGCTG p.(Gln51delinsProAlaGlu) NC_000015.10:89333603:TG:CTGCTG Identity +NM_018026.4:c.110_133dup NP_060496.2:p.Gln37_Gln44dup NC_000011.10:66070581:GCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGC:GCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGC p.(Gln37_Gln44dup) NC_000011.10:66070581:GCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGC:GCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGC p.(Gln37_Gln44dup) ERR:SPDI Identity +NM_001204087.2:c.87GCA[5] NP_001191016.1:p.Gln39_Gln41del NC_000001.11:154869854:TGCTGCTGCTGCTGCTGCTGCTGCT:TGCTGCTGCTGCTGCT p.(Gln39_Gln41del) NC_000001.11:154869877:C:TGCTGCTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_024496.4:c.345GCA[8] NP_078772.1:p.Gln126_Gln127del NC_000014.9:77027418:TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:TGCTGCTGCTGCTGCTGCTGCTGCTG p.(Gln126_Gln127del) NC_000014.9:77027447:C:TGCTGCTGCTGCTGCTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_001127493.3:c.2247G>A NP_001120965.1:p.Gln749= NC_000004.12:113292447:G:A p.(Gln749=) NC_000004.12:113292447:G:A p.(Gln749=) NC_000004.12:113292447:G:A Identity +NM_001009931.3:c.2226C>T NP_001009931.1:p.His742= NC_000001.11:152219402:G:A p.(His742=) NC_000001.11:152219402:G:A p.(His742=) NC_000001.11:152219402:G:A Identity +NM_000257.4:c.3846C>A NP_000248.2:p.Thr1282= NC_000014.9:23419489:G:T p.(Thr1282=) NC_000014.9:23419489:G:T p.(Thr1282=) NC_000014.9:23419489:G:T Identity +NM_001040177.3:c.84C>T NP_001035267.1:p.Asp28= NC_000010.11:4830718:C:T p.(Asp28=) NC_000010.11:4830718:C:T p.(Asp28=) NC_000010.11:4830718:C:T Identity +NM_001365276.2:c.8808T>C NP_001352205.1:p.Thr2936= NC_000006.12:32052976:A:G p.(Thr2936=) NC_000006.12:32052976:A:G p.(Thr2936=) NC_000006.12:32052976:A:G Identity +NM_000435.3:c.3504A>T NP_000426.2:p.Pro1168= NC_000019.10:15179238:T:A p.(Pro1168=) NC_000019.10:15179238:T:A p.(Pro1168=) NC_000019.10:15179238:T:A Identity +NM_001166058.2:c.921A>G NP_001159530.1:p.Leu307= NC_000013.11:31786445:A:G p.(Leu307=) NC_000013.11:31786445:A:G p.(Leu307=) NC_000013.11:31786445:A:G Identity +NM_001256850.1:c.69180A>G NP_001243779.1:p.Arg23060= NC_000002.12:178572028:T:C p.(Arg23060=) NC_000002.12:178572028:T:C p.(Arg23060=) NC_000002.12:178572028:T:C Identity +NM_001167580.3:c.834G>A NP_001161052.1:p.Val278= NC_000015.10:91268518:G:A p.(Val278=) NC_000015.10:91268518:G:A p.(Val278=) NC_000015.10:91268518:G:A Identity +NM_178857.6:c.1317C>A NP_849188.4:p.Gly439= NC_000008.11:10612780:G:T p.(Gly439=) NC_000008.11:10612780:G:T p.(Gly439=) NC_000008.11:10612780:G:T Identity +NM_004415.4:c.4602A>G NP_004406.2:p.Glu1534= NC_000006.12:7580791:A:G p.(Glu1534=) NC_000006.12:7580791:A:G p.(Glu1534=) NC_000006.12:7580791:A:G Identity +NM_017780.4:c.6123C>T NP_060250.2:p.Ser2041= NC_000008.11:60852847:C:T p.(Ser2041=) NC_000008.11:60852847:C:T p.(Ser2041=) NC_000008.11:60852847:C:T Identity +NM_001127487.2:c.248_265dup NP_001120959.1:p.Pro88_Arg89insHisArgLysPheHisPro NC_000007.14:128830884:ACCGCAAGTTCCATCCGC:ACCGCAAGTTCCATCCGCACCGCAAGTTCCATCCGC p.(Pro88_Arg89insHisArgLysPheHisPro) NC_000007.14:128830884:ACCGCAAGTTCCATCCGC:ACCGCAAGTTCCATCCGCACCGCAAGTTCCATCCGC p.(Pro88_Arg89insHisArgLysPheHisPro) ERR:SPDI Identity +LRG_1242t1:c.3141_3158del LRG_1242p1:p.1032DSS[6] NC_000004.12:87615800:GATAGCAGTGACAGCAGTGA:GA ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found ERR:AlignmentMapper(tx_ac=LRG_1242t1, alt_ac=LRG_1242t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1242t1, alt_ac=LRG_1242t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found +NM_000256.3:c.1432_1436delinsGC NP_000247.2:p.Ser478_Glu479delinsAla NC_000011.10:47342850:TCCGA:GC p.(Ser478_Glu479delinsAla) NC_000011.10:47342850:TCCGAT:TGC p.(Ser478_Glu479delinsAla) NC_000011.10:47342850:TCCGA:GC Identity +NM_001256789.3:c.3846C>T NP_001243718.1:p.Thr1282= NC_000023.11:49212762:G:A p.(Thr1282=) NC_000023.11:49212762:G:A p.(Thr1282=) NC_000023.11:49212762:G:A Identity +NM_001005476.4:c.2079G>A NP_001005476.1:p.Thr693= NC_000002.12:158658299:G:A p.(Thr693=) NC_000002.12:158658299:G:A p.(Thr693=) NC_000002.12:158658299:G:A Identity +NM_000062.3:c.1019del NP_000053.2:p.Thr339_Leu340insTer NC_000011.10:57606534:TTT:TT p.(Leu340Ter) NC_000011.10:57606534:TTT:TT p.(Leu340Ter) NC_000011.10:57606536:T: Analogous +NM_001287750.2:c.196CACTCC[11] NP_001274679.1:p.Ser77_Cys78insHisSerHisSerHisSerHisSerHisSer NC_000008.11:11808709:TCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC:TCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC p.(His68_Ser77dup) NC_000008.11:11808712:C:CACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC ERR:Parse ERR:Parse Analogous +NM_001303052.2:c.2075_2104del NP_001289981.1:p.Thr692_Ser701del NC_000002.12:1892215:TGCTGCTGCTGCTGGGCGCGTAGCTGCTGGTGCTGCTGCTGCTGGG:TGCTGCTGCTGCTGGG p.(Thr692_Ser701del) NC_000002.12:1892215:TGCTGCTGCTGCTGGGCGCGTAGCTGCTGGTGCTGCTGCTGCTGGG:TGCTGCTGCTGCTGGG p.(Thr692_Ser701del) NC_000002.12:1892215:TGCTGCTGCTGCTGGGCGCGTAGCTGCTGG: Identity +NM_001367624.2:c.10099TGCCCCCGG[3] NP_001354553.1:p.3367CPR[3] NC_000016.10:88437567:GTGCCCCCGGTGCCCCCGG:GTGCCCCCGGTGCCCCCGGTGCCCCCGG p.(Cys3370_Arg3372dup) NC_000016.10:88437568:T:TGCCCCCGGTGCCCCCGGTGCCCCCGG ERR:Parse ERR:Parse Analogous +NM_001079821.3:c.2565G>T NP_001073289.2:p.Leu855= NC_000001.11:247436041:G:T p.(Leu855=) NC_000001.11:247436041:G:T p.(Leu855=) NC_000001.11:247436041:G:T Identity +NM_015384.5:c.4170T>A NP_056199.2:p.Val1390= NC_000005.10:37007404:T:A p.(Val1390=) NC_000005.10:37007404:T:A p.(Val1390=) NC_000005.10:37007404:T:A Identity +LRG_785t1:c.2872C>T LRG_785p1:p.Leu958= NC_000019.10:50416446:C:T ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_785t1 not found +NM_002335.4:c.58_69dup NP_002326.2:p.Leu20_Cys23dup NC_000011.10:68312771:CTGGCGCTGTGC:CTGGCGCTGTGCCTGGCGCTGTGC p.(Leu20_Cys23dup) NC_000011.10:68312771:CTGGCGCTGTGC:CTGGCGCTGTGCCTGGCGCTGTGC p.(Leu20_Cys23dup) ERR:SPDI Identity +NM_001007026.2:c.3058_3072del NP_001007027.1:p.Leu1021_Arg1025del NC_000012.12:6939014:GCTGAGCGGCTGGCAGCTGAG:GCTGAG p.(Leu1021_Arg1025del) NC_000012.12:6939014:GCTGAGCGGCTGGCAGCTGAG:GCTGAG p.(Leu1021_Arg1025del) NC_000012.12:6939020:CGGCTGGCAGCTGAG: Identity +NM_006015.6:c.375_380dup NP_006006.3:p.Gly126_Gly127dup NC_000001.11:26696772:GGCGGTGGCGG:GGCGGTGGCGGTGGCGG p.(Gly126_Gly127dup) NC_000001.11:26696772:GGCGGTGGCGG:GGCGGTGGCGGTGGCGG p.(Gly126_Gly127dup) ERR:SPDI Identity +NM_001130438.3:c.1383_1384delinsTT NP_001123910.1:p.Gln461_Gln462delinsHisTer NC_000009.12:128580980:GC:TT p.(Gln461_Gln462delinsHisTer) NC_000009.12:128580980:GC:TT p.(Gln461_Gln462delinsHisTer) NC_000009.12:128580980:GC:TT Identity +NM_001330990.2:c.3448_3458delinsTAGT NP_001317919.1:p.Leu1150_Gly1153delinsTer NC_000003.12:47850066:CTGCTGCGAGG:TAGT p.(Leu1150Ter) NC_000003.12:47850065:GCTGCTGCGAGG:GTAGT p.(Leu1150Ter) NC_000003.12:47850066:CTGCTGCGAGG:TAGT Analogous +NM_002160.4:c.1023C>T NP_002151.2:p.Cys341= NC_000009.12:115086707:G:A p.(Cys341=) NC_000009.12:115086707:G:A p.(Cys341=) NC_000009.12:115086707:G:A Identity +NM_001677.4:c.522G>A NP_001668.1:p.Pro174= NC_000001.11:169127362:G:A p.(Pro174=) NC_000001.11:169127362:G:A p.(Pro174=) NC_000001.11:169127362:G:A Identity +NM_001321309.2:c.2638_2639insCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTG NP_001308238.1:p.856AETLKPMGNAKP[3] NC_000003.12:123700301:CAGGCTTGGC:CAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCAGCAGGCTTGGC p.(Ala868_Pro879dup) NC_000003.12:123700300:T:CAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCAG p.(Ala868_Pro879dup) NC_000003.12:123700301:TC:CAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCAG Analogous +NM_000092.5:c.4548_4549del NP_000083.3:p.Val1516_Phe1517insTer NC_000002.12:227008277:ATA:A p.(Phe1517Ter) NC_000002.12:227008277:ATA:A p.(Phe1517Ter) NC_000002.12:227008277:AT: Analogous +NM_000059.4:c.6585T>C NP_000050.3:p.Gly2195= NC_000013.11:32340939:T:C p.(Gly2195=) NC_000013.11:32340939:T:C p.(Gly2195=) NC_000013.11:32340939:T:C Identity +NM_001845.6:c.4434C>T NP_001836.3:p.Gly1478= NC_000013.11:110162257:G:A p.(Gly1478=) NC_000013.11:110162257:G:A p.(Gly1478=) NC_000013.11:110162257:G:A Identity +NM_001012279.3:c.1992C>T p.Ala664= NC_000006.12:127476033:G:A ERR:Data provider error: ValueError: Transcript NM_001012279.3 not found ERR:Data provider error: ValueError: Transcript NM_001012279.3 not found ERR:AlignmentMapper(tx_ac=NM_001012279.3, alt_ac=NM_001012279.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012279.3, alt_ac=NM_001012279.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012279.3 not found +NM_000059.4:c.5022T>C NP_000050.3:p.Ser1674= NC_000013.11:32339376:T:C p.(Ser1674=) NC_000013.11:32339376:T:C p.(Ser1674=) NC_000013.11:32339376:T:C Identity +NM_058216.3:c.692_694delinsAA NP_478123.1:p.Ser231_Glu232delinsTer NC_000017.11:58703315:CAG:AA p.(Ser231Ter) NC_000017.11:58703315:CAG:AA p.(Ser231Ter) NC_000017.11:58703315:CAG:AA Analogous +NM_001024858.4:c.3747G>A NP_001020029.1:p.Val1249= NC_000014.9:64785765:C:T p.(Val1249=) NC_000014.9:64785765:C:T p.(Val1249=) NC_000014.9:64785765:C:T Identity +NM_001042702.5:c.846C>T NP_001036167.1:p.Leu282= NC_000002.12:178461060:C:T p.(Leu282=) NC_000002.12:178461060:C:T p.(Leu282=) NC_000002.12:178461060:C:T Identity +NM_000179.3:c.1991_1992del NP_000170.1:p.Thr663_Ser664insTer NC_000002.12:47799973:CA: p.(Ser664Ter) NC_000002.12:47799973:CA: p.(Ser664Ter) NC_000002.12:47799973:CA: Analogous +NM_001141945.3:c.381G>A NP_001135417.1:p.Glu127= NC_000010.11:88941857:C:T p.(Glu127=) NC_000010.11:88941857:C:T p.(Glu127=) NC_000010.11:88941857:C:T Identity +NM_001286074.2:c.4683C>T NP_001273003.2:p.His1561= NC_000023.11:71424167:C:T p.(His1561=) NC_000023.11:71424167:C:T p.(His1561=) NC_000023.11:71424167:C:T Identity +NM_030632.3:c.694C>A NP_085135.1:p.Arg232= NC_000018.10:33671844:C:A p.(Arg232=) NC_000018.10:33671844:C:A p.(Arg232=) NC_000018.10:33671844:C:A Identity +NM_001372044.2:c.1353T>C NP_001358973.1:p.Asp451= NC_000022.11:50694871:T:C p.(Asp451=) NC_000022.11:50694871:T:C p.(Asp451=) NC_000022.11:50694871:T:C Identity +NM_006015.6:c.3519C>T NP_006006.3:p.Ile1173= NC_000001.11:26772611:C:T p.(Ile1173=) NC_000001.11:26772611:C:T p.(Ile1173=) NC_000001.11:26772611:C:T Identity +NM_003597.5:c.24C>G NP_003588.1:p.Gly8= NC_000002.12:10043739:C:G p.(Gly8=) NC_000002.12:10043739:C:G p.(Gly8=) NC_000002.12:10043739:C:G Identity +NM_007118.4:c.3825T>G NP_009049.2:p.Leu1275= NC_000005.10:14387790:T:G p.(Leu1275=) NC_000005.10:14387790:T:G p.(Leu1275=) NC_000005.10:14387790:T:G Identity +LRG_1146t1:c.333A>C LRG_1146p1:p.Pro111= NC_000012.12:56044138:A:C ERR:Data provider error: ValueError: Transcript LRG_1146t1 not found ERR:Data provider error: ValueError: Transcript LRG_1146t1 not found ERR:AlignmentMapper(tx_ac=LRG_1146t1, alt_ac=LRG_1146t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1146t1, alt_ac=LRG_1146t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1146t1 not found +LRG_1214t1:c.588G>A LRG_1214p1:p.Arg196= NC_000005.10:34937474:G:A ERR:Data provider error: ValueError: Transcript LRG_1214t1 not found ERR:Data provider error: ValueError: Transcript LRG_1214t1 not found ERR:AlignmentMapper(tx_ac=LRG_1214t1, alt_ac=LRG_1214t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1214t1, alt_ac=LRG_1214t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1214t1 not found +NM_001318900.1:c.777C>T NP_001305829.1:p.Asn259= NC_000010.11:87060708:G:A p.(Asn259=) NC_000010.11:87060708:G:A p.(Asn259=) NC_000010.11:87060708:G:A Identity +NM_001127231.3:c.2673C>T NP_001120703.1:p.His891= NC_000007.14:70789960:C:T p.(His891=) NC_000007.14:70789960:C:T p.(His891=) NC_000007.14:70789960:C:T Identity +NM_001376.5:c.4884G>A NP_001367.2:p.Arg1628= NC_000014.9:102004517:G:A p.(Arg1628=) NC_000014.9:102004517:G:A p.(Arg1628=) NC_000014.9:102004517:G:A Identity +NM_000162.5:c.1098C>T NP_000153.1:p.Ile366= NC_000007.14:44145651:G:A p.(Ile366=) NC_000007.14:44145651:G:A p.(Ile366=) NC_000007.14:44145651:G:A Identity +NM_001363671.2:c.1065C>T NP_001350600.1:p.Ser355= NC_000007.14:100106420:C:T p.(Ser355=) NC_000007.14:100106420:C:T p.(Ser355=) NC_000007.14:100106420:C:T Identity +NM_001202543.2:c.2358_2363del NP_001189472.1:p.Ser787_Ala788del NC_000007.14:102201618:TGCCTCTGC:TGC p.(Ser787_Ala788del) NC_000007.14:102201618:TGCCTCTGC:TGC p.(Ser787_Ala788del) NC_000007.14:102201621:CTCTGC: Identity +NM_000286.3:c.391_408dup NP_000277.1:p.Glu131_Ser136dup NC_000017.11:35577309:GCTAGAAACCAGCTTCTC:GCTAGAAACCAGCTTCTCGCTAGAAACCAGCTTCTC p.(Glu131_Ser136dup) NC_000017.11:35577309:GCTAGAAACCAGCTTCTC:GCTAGAAACCAGCTTCTCGCTAGAAACCAGCTTCTC p.(Glu131_Ser136dup) ERR:SPDI Identity +NM_001286577.2:c.4374_4394del NP_001273506.1:p.Asn1459_Val1465del NC_000011.10:74078323:ACCATAATCTGCTTTTTGTTTAC:AC p.(Asn1459_Val1465del) NC_000011.10:74078323:ACCATAATCTGCTTTTTGTTTAC:AC p.(Asn1459_Val1465del) NC_000011.10:74078323:ACCATAATCTGCTTTTTGTTT: Identity +NM_001042529.3:c.978_980del NP_001035994.1:p.Asn326_Glu327delinsLys NC_000017.11:42564506:ATGA:A p.(Asn326_Glu327delinsLys) NC_000017.11:42564506:ATGA:A p.(Asn326_Glu327delinsLys) NC_000017.11:42564507:TGA: Identity +NM_001293306.2:c.2064C>T NP_001280235.2:p.Gly688= NC_000003.12:38742332:G:A p.(Gly688=) NC_000003.12:38742332:G:A p.(Gly688=) NC_000003.12:38742332:G:A Identity +NM_001135999.2:c.1299_1316dup NP_001129471.2:p.Gly434_Pro439dup NC_000009.12:35547811:CCAGGCCCTGGCCCAGACCCAGGCCC:CCAGGCCCTGGCCCAGACCCAGGCCCTGGCCCAGACCCAGGCCC p.(Gly434_Pro439dup) NC_000009.12:35547811:CCAGGCCCTGGCCCAGACCCAGGCCC:CCAGGCCCTGGCCCAGACCCAGGCCCTGGCCCAGACCCAGGCCC p.(Gly434_Pro439dup) ERR:SPDI Identity +NM_001352385.2:c.1124AGGAAG[3] NP_001339314.1:p.Glu377_Glu378dup NC_000020.11:45001328:GAGGAAGAGGAAG:GAGGAAGAGGAAGAGGAAG p.(Glu377_Glu378dup) NC_000020.11:45001329:A:AGGAAGAGGAAGAGGAAG ERR:Parse ERR:Parse Identity +NM_001042544.1:c.2050C>A NP_001036009.1:p.Arg684= NC_000019.10:40611189:C:A p.(Arg684=) NC_000019.10:40611189:C:A p.(Arg684=) NC_000019.10:40611189:C:A Identity +NM_001318381.2:c.327G>C NP_001305310.1:p.Leu109= NC_000009.12:100229826:G:C p.(Leu109=) NC_000009.12:100229826:G:C p.(Leu109=) NC_000009.12:100229826:G:C Identity +NM_002335.4:c.34CTG[13] NP_002326.2:p.Leu17_Leu20dup NC_000011.10:68312746:GCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG p.(Leu17_Leu20dup) NC_000011.10:68312747:C:CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ERR:Parse ERR:Parse Identity +NM_001145527.2:c.216C>T NP_001138999.1:p.His72= NC_000009.12:137716755:C:T p.(His72=) NC_000009.12:137716755:C:T p.(His72=) NC_000009.12:137716755:C:T Identity +NM_001324281.3:c.3402T>A NP_001311210.1:p.Val1134= NC_000007.14:2906700:A:T p.(Val1134=) NC_000007.14:2906700:A:T p.(Val1134=) NC_000007.14:2906700:A:T Identity +NM_000186.4:c.1269A>G NP_000177.2:p.Pro423= NC_000001.11:196690171:A:G p.(Pro423=) NC_000001.11:196690171:A:G p.(Pro423=) NC_000001.11:196690171:A:G Identity +NM_004795.4:c.585C>T NP_004786.2:p.Asp195= NC_000013.11:33017024:C:T p.(Asp195=) NC_000013.11:33017024:C:T p.(Asp195=) NC_000013.11:33017024:C:T Identity +NM_001330588.2:c.1473T>C NP_001317517.1:p.Asn491= NC_000013.11:102635665:T:C p.(Asn491=) NC_000013.11:102635665:T:C p.(Asn491=) NC_000013.11:102635665:T:C Identity +NM_015180.6:c.2499G>T NP_055995.4:p.Ala833= NC_000014.9:63990967:G:T p.(Ala833=) NC_000014.9:63990967:G:T p.(Ala833=) NC_000014.9:63990967:G:T Identity +NM_020928.2:c.2586C>T NP_065979.1:p.Asn862= NC_000005.10:61539641:C:T p.(Asn862=) NC_000005.10:61539641:C:T p.(Asn862=) NC_000005.10:61539641:C:T Identity +NM_003482.4:c.6954C>G NP_003473.3:p.Gly2318= NC_000012.12:49040815:G:C p.(Gly2318=) NC_000012.12:49040815:G:C p.(Gly2318=) NC_000012.12:49040815:G:C Identity +NM_000388.4:c.2814A>C NP_000379.3:p.Leu938= NC_000003.12:122284767:A:C p.(Leu938=) NC_000003.12:122284767:A:C p.(Leu938=) NC_000003.12:122284767:A:C Identity +NM_000038.6:c.8190C>G NP_000029.2:p.Ala2730= NC_000005.10:112843783:C:G p.(Ala2730=) NC_000005.10:112843783:C:G p.(Ala2730=) NC_000005.10:112843783:C:G Identity +NM_001848.3:c.93C>T NP_001839.2:p.Phe31= NC_000021.9:45981942:C:T p.(Phe31=) NC_000021.9:45981942:C:T p.(Phe31=) NC_000021.9:45981942:C:T Identity +NM_001318369.2:c.1611G>A NP_001305298.1:p.Lys537= NC_000011.10:20654786:G:A p.(Lys537=) NC_000011.10:20654786:G:A p.(Lys537=) NC_000011.10:20654786:G:A Identity +NM_001321727.1:c.546C>A NP_001308656.1:p.Gly182= NC_000002.12:74530655:C:A p.(Gly182=) NC_000002.12:74530655:C:A p.(Gly182=) NC_000002.12:74530655:C:A Identity +NM_000095.3:c.1099_1104del NP_000086.2:p.Arg367_Gly368del NC_000019.10:18787521:GCCCCGGCC:GCC p.(Arg367_Gly368del) NC_000019.10:18787521:GCCCCGGCC:GCC p.(Arg367_Gly368del) NC_000019.10:18787521:GCCCCG: Identity +NM_005334.3:c.3858C>T NP_005325.2:p.Thr1286= NC_000023.11:153954540:G:A p.(Thr1286=) NC_000023.11:153954540:G:A p.(Thr1286=) NC_000023.11:153954540:G:A Identity +NM_001194937.2:c.2745G>A NP_001181866.1:p.Pro915= NC_000001.11:151406262:C:T p.(Pro915=) NC_000001.11:151406262:C:T p.(Pro915=) NC_000001.11:151406262:C:T Identity +NM_001013406.2:c.1164G>A NP_001013424.1:p.Leu388= NC_000007.14:92222924:C:T p.(Leu388=) NC_000007.14:92222924:C:T p.(Leu388=) NC_000007.14:92222924:C:T Identity +NM_001079846.1:c.2472G>A NP_001073315.1:p.Thr824= NC_000016.10:3770863:C:T p.(Thr824=) NC_000016.10:3770863:C:T p.(Thr824=) NC_000016.10:3770863:C:T Identity +LRG_190t1:c.397C>A LRG_190p1:p.Arg133= NC_000016.10:3254670:G:T ERR:Data provider error: ValueError: Transcript LRG_190t1 not found ERR:Data provider error: ValueError: Transcript LRG_190t1 not found ERR:AlignmentMapper(tx_ac=LRG_190t1, alt_ac=LRG_190t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_190t1, alt_ac=LRG_190t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_190t1 not found +NM_001199138.2:c.333C>G NP_001186067.1:p.Thr111= NC_000002.12:32251530:G:C p.(Thr111=) NC_000002.12:32251530:G:C p.(Thr111=) NC_000002.12:32251530:G:C Identity +NM_001378259.1:c.593_604dup NP_001365188.1:p.Ala201_Val202insGlyProGlyAla NC_000003.12:123447941:CCGCGCCGGGCCCCGCGCC:CCGCGCCGGGCCCCGCGCCGGGCCCCGCGCC p.(Gly198_Ala201dup) NC_000003.12:123447941:CCGCGCCGGGCCCCGCGCC:CCGCGCCGGGCCCCGCGCCGGGCCCCGCGCC p.(Gly198_Ala201dup) ERR:SPDI Analogous +NM_001168298.2:c.408_409inv NP_001161770.1:p.Leu136_Leu137= NC_000002.12:218135208:AC:GT p.(Leu136_Leu137=) NC_000002.12:218135208:AC:GT p.(Leu136=) ERR:SPDI Identity +NM_000332.4:c.638_639insTCA NP_000323.2:p.Gln212_Gln213insHis NC_000006.12:16327672:TG:TGATG p.(Gln212_Gln213insHis) NC_000006.12:16327671:C:TGA p.(Gln212_Gln213insHis) NC_000006.12:16327672:CT:TGA Identity +NM_001354663.2:c.1401G>T NP_001341592.1:p.Arg467= NC_000003.12:193648133:G:T p.(Arg467=) NC_000003.12:193648133:G:T p.(Arg467=) NC_000003.12:193648133:G:T Identity +NM_001354663.2:c.1274_1276del NP_001341592.1:p.Val425_Ser426delinsAla NC_000003.12:193647117:TAT: p.(Val425_Ser426delinsAla) NC_000003.12:193647117:TAT: p.(Val425_Ser426delinsAla) NC_000003.12:193647117:TAT: Identity +NM_001082486.2:c.549G>A NP_001075955.2:p.Gly183= NC_000016.10:67659023:C:T p.(Gly183=) NC_000016.10:67659023:C:T p.(Gly183=) NC_000016.10:67659023:C:T Identity +NM_001007793.3:c.930T>A NP_001007794.1:p.Gly310= NC_000010.11:123162786:T:A p.(Gly310=) NC_000010.11:123162786:T:A p.(Gly310=) NC_000010.11:123162786:T:A Identity +NM_001007793.3:c.291C>T NP_001007794.1:p.Ala97= NC_000010.11:123157753:C:T p.(Ala97=) NC_000010.11:123157753:C:T p.(Ala97=) NC_000010.11:123157753:C:T Identity +NM_017780.4:c.6336G>A NP_060250.2:p.Thr2112= NC_000008.11:60853060:G:A p.(Thr2112=) NC_000008.11:60853060:G:A p.(Thr2112=) NC_000008.11:60853060:G:A Identity +NM_003388.5:c.2034C>T NP_003379.4:p.His678= NC_000007.14:74376434:C:T p.(His678=) NC_000007.14:74376434:C:T p.(His678=) NC_000007.14:74376434:C:T Identity +NM_000089.4:c.609C>T NP_000080.2:p.Ala203= NC_000007.14:94407860:C:T p.(Ala203=) NC_000007.14:94407860:C:T p.(Ala203=) NC_000007.14:94407860:C:T Identity +NM_000093.5:c.1242G>A NP_000084.3:p.Glu414= NC_000009.12:134731572:G:A p.(Glu414=) NC_000009.12:134731572:G:A p.(Glu414=) NC_000009.12:134731572:G:A Identity +NM_005502.4:c.2565C>T NP_005493.2:p.Pro855= NC_000009.12:104824555:G:A p.(Pro855=) NC_000009.12:104824555:G:A p.(Pro855=) NC_000009.12:104824555:G:A Identity +NM_000089.4:c.3339T>C NP_000080.2:p.Asp1113= NC_000007.14:94427697:T:C p.(Asp1113=) NC_000007.14:94427697:T:C p.(Asp1113=) NC_000007.14:94427697:T:C Identity +NM_005502.4:c.6327T>G NP_005493.2:p.Ala2109= NC_000009.12:104786371:A:C p.(Ala2109=) NC_000009.12:104786371:A:C p.(Ala2109=) NC_000009.12:104786371:A:C Identity +NM_000093.5:c.3687G>A NP_000084.3:p.Leu1229= NC_000009.12:134811595:G:A p.(Leu1229=) NC_000009.12:134811595:G:A p.(Leu1229=) NC_000009.12:134811595:G:A Identity +NM_005502.4:c.174T>C NP_005493.2:p.Asn58= NC_000009.12:104884554:A:G p.(Asn58=) NC_000009.12:104884554:A:G p.(Asn58=) NC_000009.12:104884554:A:G Identity +NM_053046.4:c.1215G>T NP_444274.1:p.Thr405= NC_000019.10:40807854:G:T p.(Thr405=) NC_000019.10:40807854:G:T p.(Thr405=) NC_000019.10:40807854:G:T Identity +NM_001430.5:c.1641C>G NP_001421.2:p.Pro547= NC_000002.12:46380312:C:G p.(Pro547=) NC_000002.12:46380312:C:G p.(Pro547=) NC_000002.12:46380312:C:G Identity +NM_001430.5:c.144C>T NP_001421.2:p.Ser48= NC_000002.12:46346989:C:T p.(Ser48=) NC_000002.12:46346989:C:T p.(Ser48=) NC_000002.12:46346989:C:T Identity +NM_001430.5:c.492A>G NP_001421.2:p.Thr164= NC_000002.12:46360674:A:G p.(Thr164=) NC_000002.12:46360674:A:G p.(Thr164=) NC_000002.12:46360674:A:G Identity +NM_001999.4:c.1356C>G NP_001990.2:p.Gly452= NC_000005.10:128393243:G:C p.(Gly452=) NC_000005.10:128393243:G:C p.(Gly452=) NC_000005.10:128393243:G:C Identity +NM_001300832.3:c.750C>T NP_001287761.1:p.Ser250= NC_000011.10:65399849:C:T p.(Ser250=) NC_000011.10:65399849:C:T p.(Ser250=) NC_000011.10:65399849:C:T Identity +NM_005271.5:c.25C>T NP_005262.1:p.Leu9= NC_000010.11:87094744:G:A p.(Leu9=) NC_000010.11:87094744:G:A p.(Leu9=) NC_000010.11:87094744:G:A Identity +NM_001282386.1:c.126T>C NP_001269315.1:p.Tyr42= NC_000002.12:208248656:A:G p.(Tyr42=) NC_000002.12:208248656:A:G p.(Tyr42=) NC_000002.12:208248656:A:G Identity +NM_001365951.3:c.2161C>A NP_001352880.1:p.Arg721= NC_000001.11:10320087:C:A p.(Arg721=) NC_000001.11:10320087:C:A p.(Arg721=) NC_000001.11:10320087:C:A Identity +NM_052947.4:c.3003G>A NP_443179.3:p.Ala1001= NC_000018.10:58537183:C:T p.(Ala1001=) NC_000018.10:58537183:C:T p.(Ala1001=) NC_000018.10:58537183:C:T Identity +NM_052947.4:c.4011A>G NP_443179.3:p.Arg1337= NC_000018.10:58536175:T:C p.(Arg1337=) NC_000018.10:58536175:T:C p.(Arg1337=) NC_000018.10:58536175:T:C Identity +NM_052947.4:c.5613T>C NP_443179.3:p.Phe1871= NC_000018.10:58523950:A:G p.(Phe1871=) NC_000018.10:58523950:A:G p.(Phe1871=) NC_000018.10:58523950:A:G Identity +NM_052947.4:c.1473A>G NP_443179.3:p.Val491= NC_000018.10:58579302:T:C p.(Val491=) NC_000018.10:58579302:T:C p.(Val491=) NC_000018.10:58579302:T:C Identity +NM_198578.4:c.5553A>C NP_940980.4:p.Pro1851= NC_000012.12:40323202:A:C p.(Pro1851=) NC_000012.12:40323202:A:C p.(Pro1851=) NC_000012.12:40323202:A:C Identity +NM_198578.4:c.1263A>G NP_940980.4:p.Ala421= NC_000012.12:40252990:A:G p.(Ala421=) NC_000012.12:40252990:A:G p.(Ala421=) NC_000012.12:40252990:A:G Identity +NM_198578.4:c.4635T>C NP_940980.4:p.Phe1545= NC_000012.12:40314069:T:C p.(Phe1545=) NC_000012.12:40314069:T:C p.(Phe1545=) NC_000012.12:40314069:T:C Identity +NM_198578.4:c.1800A>G NP_940980.4:p.Gln600= NC_000012.12:40274725:A:G p.(Gln600=) NC_000012.12:40274725:A:G p.(Gln600=) NC_000012.12:40274725:A:G Identity +NM_198578.4:c.1777C>T NP_940980.4:p.Leu593= NC_000012.12:40274702:C:T p.(Leu593=) NC_000012.12:40274702:C:T p.(Leu593=) NC_000012.12:40274702:C:T Identity +NM_198578.4:c.2217G>A NP_940980.4:p.Lys739= NC_000012.12:40278236:G:A p.(Lys739=) NC_000012.12:40278236:G:A p.(Lys739=) NC_000012.12:40278236:G:A Identity +NM_001040108.2:c.1200C>A NP_001035197.1:p.Ser400= NC_000014.9:75048455:G:T p.(Ser400=) NC_000014.9:75048455:G:T p.(Ser400=) NC_000014.9:75048455:G:T Identity +NM_002432.3:c.1095T>C NP_002423.1:p.Asp365= NC_000001.11:158847834:T:C p.(Asp365=) NC_000001.11:158847834:T:C p.(Asp365=) NC_000001.11:158847834:T:C Identity +NM_000903.3:c.634C>T NP_000894.1:p.Leu212= NC_000016.10:69711166:G:A p.(Leu212=) NC_000016.10:69711166:G:A p.(Leu212=) NC_000016.10:69711166:G:A Identity +NM_001321307.1:c.888T>C NP_001308236.1:p.Asp296= NC_000011.10:108185249:A:G p.(Asp296=) NC_000011.10:108185249:A:G p.(Asp296=) NC_000011.10:108185249:A:G Identity +NM_001098623.2:c.5823C>T NP_001092093.2:p.Ser1941= NC_000001.11:228274710:C:T p.(Ser1941=) NC_000001.11:228274710:C:T p.(Ser1941=) NC_000001.11:228274710:C:T Identity +NM_001321307.1:c.2268T>C NP_001308236.1:p.Leu756= NC_000011.10:108172715:A:G p.(Leu756=) NC_000011.10:108172715:A:G p.(Leu756=) NC_000011.10:108172715:A:G Identity +NM_001098623.2:c.16761G>A NP_001092093.2:p.Glu5587= NC_000001.11:228337343:G:A p.(Glu5587=) NC_000001.11:228337343:G:A p.(Glu5587=) NC_000001.11:228337343:G:A Identity +NM_001098623.2:c.2394G>T NP_001092093.2:p.Leu798= NC_000001.11:228217028:G:T p.(Leu798=) NC_000001.11:228217028:G:T p.(Leu798=) NC_000001.11:228217028:G:T Identity +NM_001166108.2:c.744C>T NP_001159580.1:p.Asp248= NC_000004.12:168512247:C:T p.(Asp248=) NC_000004.12:168512247:C:T p.(Asp248=) NC_000004.12:168512247:C:T Identity +NM_006218.4:c.993T>C NP_006209.2:p.Asn331= NC_000003.12:179203722:T:C p.(Asn331=) NC_000003.12:179203722:T:C p.(Asn331=) NC_000003.12:179203722:T:C Identity +NM_001005476.4:c.3363G>A NP_001005476.1:p.Ser1121= NC_000002.12:158680589:G:A p.(Ser1121=) NC_000002.12:158680589:G:A p.(Ser1121=) NC_000002.12:158680589:G:A Identity +NM_000384.3:c.3120A>G NP_000375.3:p.Glu1040= NC_000002.12:21018992:T:C p.(Glu1040=) NC_000002.12:21018992:T:C p.(Glu1040=) NC_000002.12:21018992:T:C Identity +NM_000384.3:c.11478G>T NP_000375.3:p.Thr3826= NC_000002.12:21005389:C:A p.(Thr3826=) NC_000002.12:21005389:C:A p.(Thr3826=) NC_000002.12:21005389:C:A Identity +NM_000384.3:c.1089C>A NP_000375.3:p.Val363= NC_000002.12:21033333:G:T p.(Val363=) NC_000002.12:21033333:G:T p.(Val363=) NC_000002.12:21033333:G:T Identity +NM_199420.4:c.3537C>T NP_955452.3:p.Asn1179= NC_000003.12:121489393:G:A p.(Asn1179=) NC_000003.12:121489393:G:A p.(Asn1179=) NC_000003.12:121489393:G:A Identity +NM_000041.4:c.930C>G NP_000032.1:p.Ala310= NC_000019.10:44909225:C:G p.(Ala310=) NC_000019.10:44909225:C:G p.(Ala310=) NC_000019.10:44909225:C:G Identity +NM_002709.3:c.111A>G NP_002700.1:p.Leu37= NC_000002.12:28776908:A:G p.(Leu37=) NC_000002.12:28776908:A:G p.(Leu37=) NC_000002.12:28776908:A:G Identity +NM_001134363.3:c.2586C>T NP_001127835.2:p.Ser862= NC_000010.11:110820106:C:T p.(Ser862=) NC_000010.11:110820106:C:T p.(Ser862=) NC_000010.11:110820106:C:T Identity +NM_001035.3:c.12285C>T NP_001026.2:p.Gly4095= NC_000001.11:237783996:C:T p.(Gly4095=) NC_000001.11:237783996:C:T p.(Gly4095=) NC_000001.11:237783996:C:T Identity +NM_001300823.2:c.549T>A NP_001287752.1:p.Ala183= NC_000004.12:120818453:A:T p.(Ala183=) NC_000004.12:120818453:A:T p.(Ala183=) NC_000004.12:120818453:A:T Identity +NM_001293306.2:c.4146C>T NP_001280235.2:p.Asn1382= NC_000003.12:38709609:G:A p.(Asn1382=) NC_000003.12:38709609:G:A p.(Asn1382=) NC_000003.12:38709609:G:A Identity +NM_206996.4:c.6327G>A NP_996879.1:p.Arg2109= NC_000001.11:117970115:C:T p.(Arg2109=) NC_000001.11:117970115:C:T p.(Arg2109=) NC_000001.11:117970115:C:T Identity +NM_152594.3:c.972A>G NP_689807.1:p.Lys324= NC_000015.10:38351300:A:G p.(Lys324=) NC_000015.10:38351300:A:G p.(Lys324=) NC_000015.10:38351300:A:G Identity +NM_018975.4:c.775C>A NP_061848.2:p.Arg259= NC_000016.10:75654376:C:A p.(Arg259=) NC_000016.10:75654376:C:A p.(Arg259=) NC_000016.10:75654376:C:A Identity +NM_001365276.2:c.6840T>C NP_001352205.1:p.Thr2280= NC_000006.12:32064821:A:G p.(Thr2280=) NC_000006.12:32064821:A:G p.(Thr2280=) NC_000006.12:32064821:A:G Identity +NM_001256850.1:c.2583T>A NP_001243779.1:p.Ala861= NC_000002.12:178784261:A:T p.(Ala861=) NC_000002.12:178784261:A:T p.(Ala861=) NC_000002.12:178784261:A:T Identity +NM_001184.4:c.2256A>G NP_001175.2:p.Glu752= NC_000003.12:142555961:T:C p.(Glu752=) NC_000003.12:142555961:T:C p.(Glu752=) NC_000003.12:142555961:T:C Identity +NM_001184.4:c.5700C>T NP_001175.2:p.Ile1900= NC_000003.12:142497050:G:A p.(Ile1900=) NC_000003.12:142497050:G:A p.(Ile1900=) NC_000003.12:142497050:G:A Identity +NM_001345962.2:c.279T>C NP_001332891.1:p.Phe93= NC_000004.12:83467528:A:G p.(Phe93=) NC_000004.12:83467528:A:G p.(Phe93=) NC_000004.12:83467528:A:G Identity +NM_001256324.2:c.5724C>T NP_001243253.1:p.Pro1908= NC_000017.11:50619004:C:T p.(Pro1908=) NC_000017.11:50619004:C:T p.(Pro1908=) NC_000017.11:50619004:C:T Identity +NM_152393.4:c.1608G>A NP_689606.2:p.Lys536= NC_000003.12:42690858:G:A p.(Lys536=) NC_000003.12:42690858:G:A p.(Lys536=) NC_000003.12:42690858:G:A Identity +NM_005886.3:c.1881C>T NP_005877.2:p.Ser627= NC_000016.10:57756858:C:T p.(Ser627=) NC_000016.10:57756858:C:T p.(Ser627=) NC_000016.10:57756858:C:T Identity +NM_000059.4:c.7939del NP_000050.3:p.Cys2646_Leu2647insTer NC_000013.11:32362654:CC:C p.(Leu2647Ter) NC_000013.11:32362654:CC:C p.(Leu2647Ter) NC_000013.11:32362655:C: Analogous +NM_001286715.1:c.37_38insTCCAGCGCCGCCGCC NP_001273644.1:p.Ala13delinsValGlnArgArgArgPro NC_000009.12:85741925::GGCGGCGGCGCTGGA p.(Ala13delinsValGlnArgArgArgPro) NC_000009.12:85741924:G:GGCGGCGGCGCTGGA p.(Ala13delinsValGlnArgArgArgPro) NC_000009.12:85741925:GC:GGCGGCGGCGCTGGA Identity +NM_000403.4:c.937C>T NP_000394.2:p.Leu313= NC_000001.11:23796201:G:A p.(Leu313=) NC_000001.11:23796201:G:A p.(Leu313=) NC_000001.11:23796201:G:A Identity +NM_001407805.1:c.2484C>G NP_001394734.1:p.Ala828= NC_000019.10:621213:G:C p.(Ala828=) NC_000019.10:621213:G:C p.(Ala828=) NC_000019.10:621213:G:C Identity +NM_001309192.2:c.1536C>T NP_001296121.1:p.Thr512= NC_000001.11:22892990:C:T p.(Thr512=) NC_000001.11:22892990:C:T p.(Thr512=) NC_000001.11:22892990:C:T Identity +NM_003872.3:c.2643C>G NP_003863.2:p.Leu881= NC_000002.12:205794919:C:G p.(Leu881=) NC_000002.12:205794919:C:G p.(Leu881=) NC_000002.12:205794919:C:G Identity +NM_173598.6:c.1803C>T NP_775869.4:p.Ile601= NC_000012.12:117527118:G:A p.(Ile601=) NC_000012.12:117527118:G:A p.(Ile601=) NC_000012.12:117527118:G:A Identity +NM_001372044.2:c.4803C>T NP_001358973.1:p.Ala1601= NC_000022.11:50722410:C:T p.(Ser1601=) NC_000022.11:50730732:C:T p.(Ser1601=) NC_000022.11:50730732:C:T Analogous +NM_001178129.2:c.804C>A NP_001171600.1:p.Leu268= NC_000007.14:83405463:G:T p.(Leu268=) NC_000007.14:83405463:G:T p.(Leu268=) NC_000007.14:83405463:G:T Identity +NM_025179.4:c.1272G>A NP_079455.3:p.Leu424= NC_000001.11:208210378:C:T p.(Leu424=) NC_000001.11:208210378:C:T p.(Leu424=) NC_000001.11:208210378:C:T Identity +NM_002291.3:c.616_618delinsCTTTAGATCCTGC NP_002282.2:p.Ile206delinsLeuTer NC_000007.14:107986079:TAT:GCAGGATCTAAAG p.(Ile206LeufsTer2) NC_000007.14:107986079:TAT:GCAGGATCTAAAG p.(Ile206LeufsTer2) NC_000007.14:107986079:TAT:GCAGGATCTAAAG Analogous +NM_001145923.2:c.273C>T NP_001139395.1:p.Asp91= NC_000015.10:76774878:G:A p.(Asp91=) NC_000015.10:76774878:G:A p.(Asp91=) NC_000015.10:76774878:G:A Identity +NM_001001331.4:c.1817_1843dup NP_001001331.1:p.Lys614_Leu615insArgLysSerMetSerThrValIleLys NC_000003.12:10359939:GCTTGATGACAGTGCTCATGGACTTGCGC:GCTTGATGACAGTGCTCATGGACTTGCGCTTGATGACAGTGCTCATGGACTTGCGC p.(Arg606_Lys614dup) NC_000003.12:10359939:GCTTGATGACAGTGCTCATGGACTTGCGC:GCTTGATGACAGTGCTCATGGACTTGCGCTTGATGACAGTGCTCATGGACTTGCGC p.(Arg606_Lys614dup) ERR:SPDI Analogous +NM_025074.7:c.9852C>T NP_079350.5:p.Gly3284= NC_000004.12:78511344:C:T p.(Gly3284=) NC_000004.12:78511344:C:T p.(Gly3284=) NC_000004.12:78511344:C:T Identity +NM_030665.4:c.5523G>A NP_109590.3:p.Lys1841= NC_000017.11:17798470:G:A p.(Lys1841=) NC_000017.11:17798470:G:A p.(Lys1841=) NC_000017.11:17798470:G:A Identity +NM_001127231.3:c.3657_3659dup NP_001120703.1:p.Glu1219_Ile1220insMet NC_000007.14:70790944:GAT:GATGAT p.(Glu1219_Ile1220insMet) NC_000007.14:70790944:GAT:GATGAT p.(Glu1219_Ile1220insMet) ERR:SPDI Identity +NM_001371533.1:c.1521A>G NP_001358462.1:p.Gln507= NC_000014.9:65742202:A:G p.(Gln507=) NC_000014.9:65742202:A:G p.(Gln507=) NC_000014.9:65742202:A:G Identity +NM_000541.5:c.213T>C NP_000532.2:p.Tyr71= NC_000002.12:233320660:T:C p.(Tyr71=) NC_000002.12:233320660:T:C p.(Tyr71=) NC_000002.12:233320660:T:C Identity +NM_001079846.1:c.4095C>T NP_001073315.1:p.Asp1365= NC_000016.10:3739648:G:A p.(Asp1365=) NC_000016.10:3739648:G:A p.(Asp1365=) NC_000016.10:3739648:G:A Identity +NM_003356.4:c.564G>A NP_003347.1:p.Arg188= NC_000011.10:74004562:C:T p.(Arg188=) NC_000011.10:74004562:C:T p.(Arg188=) NC_000011.10:74004562:C:T Identity +NM_001127610.2:c.462T>A NP_001121082.1:p.Pro154= NC_000009.12:101370942:A:T p.(Pro154=) NC_000009.12:101370942:A:T p.(Pro154=) NC_000009.12:101370942:A:T Identity +NM_001411020.1:c.2286G>A NP_001397949.1:p.Arg762= NC_000014.9:50145595:C:T p.(Arg762=) NC_000014.9:50145595:C:T p.(Arg762=) NC_000014.9:50145595:C:T Identity +NM_001284333.3:c.2210delinsACTTGTTGCCTCACATCAACCAGCAGCAGGC NP_001271262.1:p.Cys737delinsTyrLeuLeuProHisIleAsnGlnGlnGlnAla NC_000017.11:62612455:G:ACTTGTTGCCTCACATCAACCAGCAGCAGGC p.(Cys737delinsTyrLeuLeuProHisIleAsnGlnGlnGlnAla) NC_000017.11:62612455:G:ACTTGTTGCCTCACATCAACCAGCAGCAGGC p.(Cys737delinsTyrLeuLeuProHisIleAsnGlnGlnGlnAla) NC_000017.11:62612455:G:ACTTGTTGCCTCACATCAACCAGCAGCAGGC Identity +NM_006593.4:c.1533_1553dup NP_006584.1:p.Ala518_Ala519insThrLeuLeuSerTyrAlaAla NC_000002.12:161423703:ACGCGGCCACGCTGCTCTCTTACGCGGC:ACGCGGCCACGCTGCTCTCTTACGCGGCCACGCTGCTCTCTTACGCGGC p.(Thr512_Ala518dup) NC_000002.12:161423703:ACGCGGCCACGCTGCTCTCTTACGCGGC:ACGCGGCCACGCTGCTCTCTTACGCGGCCACGCTGCTCTCTTACGCGGC p.(Thr512_Ala518dup) ERR:SPDI Analogous +NM_001320613.2:c.2948_2950dup NP_001307542.1:p.Met983_Ala984insVal NC_000002.12:24822566:CCA:CCACCA p.(Met983_Ala984insVal) NC_000002.12:24822566:CCA:CCACCA p.(Met983_Ala984insVal) ERR:SPDI Identity +NM_016148.5:c.6259_6267dup NP_057232.2:p.Pro2089_Phe2090insAspLysPro NC_000019.10:50662183:CGGCTTGTCCGG:CGGCTTGTCCGGCTTGTCCGG p.(Asp2087_Pro2089dup) NC_000019.10:50662183:CGGCTTGTCCGG:CGGCTTGTCCGGCTTGTCCGG p.(Asp2087_Pro2089dup) ERR:SPDI Analogous +NM_001105543.2:c.903G>A NP_001099013.1:p.Glu301= NC_000007.14:132507790:C:T p.(Glu301=) NC_000007.14:132507790:C:T p.(Glu301=) NC_000007.14:132507790:C:T Identity +NM_152424.4:c.2955C>T NP_689637.3:p.Ser985= NC_000023.11:64190331:G:A p.(Ser985=) NC_000023.11:64190331:G:A p.(Ser985=) NC_000023.11:64190331:G:A Identity +NM_025179.4:c.3345C>A NP_079455.3:p.Arg1115= NC_000001.11:208046027:G:T p.(Arg1115=) NC_000001.11:208046027:G:T p.(Arg1115=) NC_000001.11:208046027:G:T Identity +NM_181775.4:c.1410G>A NP_861440.2:p.Glu470= NC_000007.14:132484974:C:T p.(Glu470=) NC_000007.14:132484974:C:T p.(Glu470=) NC_000007.14:132484974:C:T Identity +NM_012471.3:c.1425T>C NP_036603.1:p.Thr475= NC_000023.11:111847388:A:G p.(Thr475=) NC_000023.11:111847388:A:G p.(Thr475=) NC_000023.11:111847388:A:G Identity +NM_001111125.3:c.3345A>G NP_001104595.1:p.Ser1115= NC_000023.11:53236427:T:C p.(Ser1115=) NC_000023.11:53236427:T:C p.(Ser1115=) NC_000023.11:53236427:T:C Identity +NM_032242.4:c.4656G>A NP_115618.3:p.Ala1552= NC_000003.12:127028326:G:A p.(Ala1552=) NC_000003.12:127028326:G:A p.(Ala1552=) NC_000003.12:127028326:G:A Identity +NM_002202.3:c.462G>T NP_002193.2:p.Arg154= NC_000005.10:51387732:G:T p.(Arg154=) NC_000005.10:51387732:G:T p.(Arg154=) NC_000005.10:51387732:G:T Identity +NM_000230.3:c.327C>T NP_000221.1:p.His109= NC_000007.14:128254585:C:T p.(His109=) NC_000007.14:128254585:C:T p.(His109=) NC_000007.14:128254585:C:T Identity +NM_001282688.2:c.693T>C NP_001269617.1:p.Asn231= NC_000009.12:89328780:T:C p.(Asn231=) NC_000009.12:89328780:T:C p.(Asn231=) NC_000009.12:89328780:T:C Identity +NM_001194956.2:c.6A>G NP_001181885.1:p.Leu2= NC_000005.10:139293985:A:G p.(Leu2=) NC_000005.10:139293985:A:G p.(Leu2=) NC_000005.10:139293985:A:G Identity +NM_004714.3:c.1080G>A NP_004705.1:p.Thr360= NC_000019.10:39827299:C:T p.(Thr360=) NC_000019.10:39827299:C:T p.(Thr360=) NC_000019.10:39827299:C:T Identity +NM_001301065.2:c.1431_1432delinsTT NP_001287994.1:p.Gln477_Lys478delinsHisTer NC_000011.10:118658924:TC:AA p.(Gln477_Lys478delinsHisTer) NC_000011.10:118658924:TC:AA p.(Gln477_Lys478delinsHisTer) NC_000011.10:118658924:TC:AA Identity +NM_032242.4:c.5130C>T NP_115618.3:p.Ala1710= NC_000003.12:127030310:C:T p.(Ala1710=) NC_000003.12:127030310:C:T p.(Ala1710=) NC_000003.12:127030310:C:T Identity +NM_017934.7:c.5152A>C NP_060404.4:p.Arg1718= NC_000006.12:78941006:T:G p.(Arg1718=) NC_000006.12:78941006:T:G p.(Arg1718=) NC_000006.12:78941006:T:G Identity +NM_001256442.2:c.1077CCCTGC[1] NP_001243371.1:p.360PA[1] NC_000016.10:29814528:CCCCTGCCCCTGC:CCCCTGC p.(Pro362_Ala363del) NC_000016.10:29814529:C:CCCTGC ERR:Parse ERR:Parse Analogous +NM_001330990.2:c.1194G>A NP_001317919.1:p.Pro398= NC_000003.12:47846349:G:A p.(Pro398=) NC_000003.12:47846349:G:A p.(Pro398=) NC_000003.12:47846349:G:A Identity +NM_001003841.3:c.1734C>T NP_001003841.1:p.Tyr578= NC_000005.10:1221732:C:T p.(Tyr578=) NC_000005.10:1221732:C:T p.(Tyr578=) NC_000005.10:1221732:C:T Identity +NM_001315529.2:c.4383C>T NP_001302458.1:p.Ala1461= NC_000021.9:46399741:C:T p.(Ala1461=) NC_000021.9:46399741:C:T p.(Ala1461=) NC_000021.9:46399741:C:T Identity +NM_001318798.2:c.615C>T NP_001305727.1:p.Asp205= NC_000003.12:50182911:C:T p.(Asp205=) NC_000003.12:50182911:C:T p.(Asp205=) NC_000003.12:50182911:C:T Identity +NM_152418.4:c.1008C>T NP_689631.1:p.Cys336= NC_000008.11:87872963:G:A p.(Cys336=) NC_000008.11:87872963:G:A p.(Cys336=) NC_000008.11:87872963:G:A Identity +NM_002458.3:c.3519A>G NP_002449.2:p.Ala1173= NC_000011.10:1239501:A:G p.(Ala1173=) NC_000011.10:1239501:A:G p.(Ala1173=) NC_000011.10:1239501:A:G Identity +NM_003320.5:c.1056C>T NP_003311.2:p.Phe352= NC_000011.10:8097718:C:T p.(Phe352=) NC_000011.10:8097718:C:T p.(Phe352=) NC_000011.10:8097718:C:T Identity +NM_001362843.2:c.315_320del NP_001349772.1:p.Ser106_Gln107del NC_000022.11:41117406:CAGCCA: p.(Ser106_Gln107del) NC_000022.11:41117406:CAGCCA: p.(Ser106_Gln107del) NC_000022.11:41117406:CAGCCA: Identity +NM_001178129.2:c.108G>A NP_001171600.1:p.Pro36= NC_000007.14:83469290:C:T p.(Pro36=) NC_000007.14:83469290:C:T p.(Pro36=) NC_000007.14:83469290:C:T Identity +NM_001393897.1:c.4113G>A NP_001380826.1:p.Thr1371= NC_000007.14:132168476:C:T p.(Thr1371=) NC_000007.14:132168476:C:T p.(Thr1371=) NC_000007.14:132168476:C:T Identity +NM_002470.4:c.1005C>T NP_002461.2:p.Ser335= NC_000017.11:10645842:G:A p.(Ser335=) NC_000017.11:10645842:G:A p.(Ser335=) NC_000017.11:10645842:G:A Identity +NM_001362950.1:c.222C>T NP_001349879.1:p.Val74= NC_000002.12:24665880:C:T p.(Val74=) NC_000002.12:24665880:C:T p.(Val74=) NC_000002.12:24665880:C:T Identity +NM_001873.4:c.1386A>G NP_001864.1:p.Glu462= NC_000004.12:165497564:A:G p.(Glu462=) NC_000004.12:165497564:A:G p.(Glu462=) NC_000004.12:165497564:A:G Identity +NM_001079872.2:c.576A>G NP_001073341.1:p.Glu192= NC_000023.11:120558019:T:C p.(Glu192=) NC_000023.11:120558019:T:C p.(Glu192=) NC_000023.11:120558019:T:C Identity +NM_003320.5:c.1368C>A NP_003311.2:p.Ile456= NC_000011.10:8100588:C:A p.(Ile456=) NC_000011.10:8100588:C:A p.(Ile456=) NC_000011.10:8100588:C:A Identity +NM_001118885.2:c.717A>G NP_001112357.1:p.Gly239= NC_000023.11:14608991:A:G p.(Gly239=) NC_000023.11:14608991:A:G p.(Gly239=) NC_000023.11:14608991:A:G Identity +NM_000868.4:c.1254T>C NP_000859.2:p.His418= NC_000023.11:114907291:T:C p.(His418=) NC_000023.11:114907291:T:C p.(His418=) NC_000023.11:114907291:T:C Identity +NM_001362950.1:c.225T>C NP_001349879.1:p.Asp75= NC_000002.12:24665883:T:C p.(Asp75=) NC_000002.12:24665883:T:C p.(Asp75=) NC_000002.12:24665883:T:C Identity +NM_003872.3:c.2595C>A NP_003863.2:p.Ile865= NC_000002.12:205794871:C:A p.(Ile865=) NC_000002.12:205794871:C:A p.(Ile865=) NC_000002.12:205794871:C:A Identity +NM_003502.4:c.222C>T NP_003493.1:p.Gly74= NC_000016.10:346803:G:A p.(Gly74=) NC_000016.10:346803:G:A p.(Gly74=) NC_000016.10:346803:G:A Identity +NM_006080.3:c.861C>T NP_006071.1:p.Leu287= NC_000007.14:84011246:G:A p.(Leu287=) NC_000007.14:84011246:G:A p.(Leu287=) NC_000007.14:84011246:G:A Identity +NM_001354609.2:c.96C>G NP_001341538.1:p.Gly32= NC_000007.14:140924607:G:C p.(Gly32=) NC_000007.14:140924607:G:C p.(Gly32=) NC_000007.14:140924607:G:C Identity +NM_030665.4:c.366G>C NP_109590.3:p.Gly122= NC_000017.11:17793313:G:C p.(Gly122=) NC_000017.11:17793313:G:C p.(Gly122=) NC_000017.11:17793313:G:C Identity +NM_001143885.2:c.2586T>C NP_001137357.1:p.Ser862= NC_000012.12:79793925:A:G p.(Ser862=) NC_000012.12:79793925:A:G p.(Ser862=) NC_000012.12:79793925:A:G Identity +NM_001362843.2:c.2613G>A NP_001349772.1:p.Val871= NC_000022.11:41150071:G:A p.(Val871=) NC_000022.11:41150071:G:A p.(Val871=) NC_000022.11:41150071:G:A Identity +NM_005912.3:c.594C>A NP_005903.2:p.Ile198= NC_000018.10:60371755:G:T p.(Ile198=) NC_000018.10:60371755:G:T p.(Ile198=) NC_000018.10:60371755:G:T Identity +NM_017514.5:c.267C>G NP_059984.3:p.Arg89= NC_000023.11:154460449:C:G p.(Arg89=) NC_000023.11:154460449:C:G p.(Arg89=) NC_000023.11:154460449:C:G Identity +NM_001348729.2:c.4812G>A NP_001335658.1:p.Val1604= NC_000002.12:8731226:C:T p.(Val1604=) NC_000002.12:8731226:C:T p.(Val1604=) NC_000002.12:8731226:C:T Identity +NM_001393897.1:c.3861G>T NP_001380826.1:p.Leu1287= NC_000007.14:132179699:C:A p.(Leu1287=) NC_000007.14:132179699:C:A p.(Leu1287=) NC_000007.14:132179699:C:A Identity +NM_005996.4:c.234C>T NP_005987.3:p.Phe78= NC_000012.12:114682966:G:A p.(Phe78=) NC_000012.12:114682966:G:A p.(Phe78=) NC_000012.12:114682966:G:A Identity +NM_001079846.1:c.57G>C NP_001073315.1:p.Ser19= NC_000016.10:3879859:C:G p.(Ser19=) NC_000016.10:3879859:C:G p.(Ser19=) NC_000016.10:3879859:C:G Identity +NM_001136157.2:c.681G>A NP_001129629.1:p.Arg227= NC_000023.11:48944196:C:T p.(Arg227=) NC_000023.11:48944196:C:T p.(Arg227=) NC_000023.11:48944196:C:T Identity +NM_025179.4:c.4098G>T NP_079455.3:p.Leu1366= NC_000001.11:208042285:C:A p.(Leu1366=) NC_000001.11:208042285:C:A p.(Leu1366=) NC_000001.11:208042285:C:A Identity +NM_001329090.2:c.1779G>A NP_001316019.1:p.Thr593= NC_000001.11:16133291:C:T p.(Thr593=) NC_000001.11:16133291:C:T p.(Thr593=) NC_000001.11:16133291:C:T Identity +NM_017514.5:c.651C>G NP_059984.3:p.Ser217= NC_000023.11:154461154:C:G p.(Ser217=) NC_000023.11:154461154:C:G p.(Ser217=) NC_000023.11:154461154:C:G Identity +NM_001410739.1:c.4566C>T NP_001397668.1:p.Arg1522= NC_000002.12:27447541:G:A p.(Arg1522=) NC_000002.12:27447541:G:A p.(Arg1522=) NC_000002.12:27447541:G:A Identity +NM_001128608.2:c.2274A>G NP_001122080.1:p.Gly758= NC_000015.10:41818921:A:G p.(Gly758=) NC_000015.10:41818921:A:G p.(Gly758=) NC_000015.10:41818921:A:G Identity +NM_004714.3:c.501G>A NP_004705.1:p.Thr167= NC_000019.10:39829898:C:T p.(Thr167=) NC_000019.10:39829898:C:T p.(Thr167=) NC_000019.10:39829898:C:T Identity +NM_001291285.3:c.4803T>G NP_001278214.1:p.Val1601= NC_000004.12:125321213:T:G p.(Val1601=) NC_000004.12:125321213:T:G p.(Val1601=) NC_000004.12:125321213:T:G Identity +NM_000817.3:c.63C>T NP_000808.2:p.Thr21= NC_000002.12:170818653:C:T p.(Thr21=) NC_000002.12:170818653:C:T p.(Thr21=) NC_000002.12:170818653:C:T Identity +NM_001322194.2:c.132C>T NP_001309123.1:p.Tyr44= NC_000009.12:5022118:C:T p.(Tyr44=) NC_000009.12:5022118:C:T p.(Tyr44=) NC_000009.12:5022118:C:T Identity +NM_201589.4:c.582_602del NP_963883.2:p.Ala197_His203del NC_000008.11:143429804:TGGTGGTGGGCGGCGTGGTGATGGTGG:TGGTGG p.(Ala197_His203del) NC_000008.11:143429804:TGGTGGTGGGCGGCGTGGTGATGGTGG:TGGTGG p.(Ala197_His203del) NC_000008.11:143429804:TGGTGGTGGGCGGCGTGGTGA: Identity +NM_001102.4:c.2664C>T NP_001093.1:p.Gly888= NC_000014.9:68874873:G:A p.(Gly888=) NC_000014.9:68874873:G:A p.(Gly888=) NC_000014.9:68874873:G:A Identity +NM_144999.4:c.1647G>A NP_659436.1:p.Arg549= NC_000017.11:82030216:G:A p.(Arg549=) NC_000017.11:82030216:G:A p.(Arg549=) NC_000017.11:82030216:G:A Identity +NM_017514.5:c.2634C>T NP_059984.3:p.Gly878= NC_000023.11:154466035:C:T p.(Gly878=) NC_000023.11:154466035:C:T p.(Gly878=) NC_000023.11:154466035:C:T Identity +NM_001348250.2:c.306C>T NP_001335179.1:p.Cys102= NC_000003.12:11017909:C:T p.(Cys102=) NC_000003.12:11017909:C:T p.(Cys102=) NC_000003.12:11017909:C:T Identity +NM_001384900.1:c.1839T>C NP_001371829.1:p.Cys613= NC_000007.14:85006870:A:G p.(Cys613=) NC_000007.14:85006870:A:G p.(Cys613=) NC_000007.14:85006870:A:G Identity +NM_001080479.3:c.352C>T NP_001073948.2:p.Leu118= NC_000005.10:73753078:C:T p.(Leu118=) NC_000005.10:73753078:C:T p.(Leu118=) NC_000005.10:73753078:C:T Identity +NM_001374769.1:c.1311A>G NP_001361698.1:p.Arg437= NC_000006.12:100393745:T:C p.(Arg437=) NC_000006.12:100393745:T:C p.(Arg437=) NC_000006.12:100393745:T:C Identity +NM_001322205.2:c.510G>A NP_001309134.1:p.Ala170= NC_000008.11:32648226:G:A p.(Ala170=) NC_000008.11:32648226:G:A p.(Ala170=) NC_000008.11:32648226:G:A Identity +NM_025179.4:c.3321C>T NP_079455.3:p.Arg1107= NC_000001.11:208046051:G:A p.(Arg1107=) NC_000001.11:208046051:G:A p.(Arg1107=) NC_000001.11:208046051:G:A Identity +NM_017514.5:c.2349G>A NP_059984.3:p.Leu783= NC_000023.11:154465663:G:A p.(Leu783=) NC_000023.11:154465663:G:A p.(Leu783=) NC_000023.11:154465663:G:A Identity +NM_024734.4:c.735A>G NP_079010.2:p.Glu245= NC_000014.9:95210752:T:C p.(Glu245=) NC_000014.9:95210752:T:C p.(Glu245=) NC_000014.9:95210752:T:C Identity +NM_001374385.1:c.2943G>A NP_001361314.1:p.Glu981= NC_000018.10:57654063:C:T p.(Glu981=) NC_000018.10:57654063:C:T p.(Glu981=) NC_000018.10:57654063:C:T Identity +NM_001362843.2:c.4719C>T NP_001349772.1:p.Arg1573= NC_000022.11:41176263:C:T p.(Arg1573=) NC_000022.11:41176263:C:T p.(Arg1573=) NC_000022.11:41176263:C:T Identity +NM_004714.3:c.1149G>A NP_004705.1:p.Thr383= NC_000019.10:39826933:C:T p.(Thr383=) NC_000019.10:39826933:C:T p.(Thr383=) NC_000019.10:39826933:C:T Identity +NM_001348729.2:c.4587A>G NP_001335658.1:p.Thr1529= NC_000002.12:8731451:T:C p.(Thr1529=) NC_000002.12:8731451:T:C p.(Thr1529=) NC_000002.12:8731451:T:C Identity +NM_017934.7:c.3985T>C NP_060404.4:p.Leu1329= NC_000006.12:78954881:A:G p.(Leu1329=) NC_000006.12:78954881:A:G p.(Leu1329=) NC_000006.12:78954881:A:G Identity +NM_001145795.2:c.2005GCAGCAGCC[1] NP_001139267.1:p.Ala672_Ala674del NC_000016.10:28873553:GCAGCAGCCGCAGCAGCC:GCAGCAGCC p.(Ala672_Ala674del) NC_000016.10:28873553:G:GCAGCAGCC ERR:Parse ERR:Parse Identity +NM_001362950.1:c.66G>A NP_001349879.1:p.Ser22= NC_000002.12:24658742:G:A p.(Ser22=) NC_000002.12:24658742:G:A p.(Ser22=) NC_000002.12:24658742:G:A Identity +NM_018161.5:c.463_477del NP_060631.2:p.Thr155_Gly159del NC_000011.10:71473279:AACCGTACCCTTCGGA:A p.(Thr155_Gly159del) NC_000011.10:71473279:AACCGTACCCTTCGGA:A p.(Thr155_Gly159del) NC_000011.10:71473280:ACCGTACCCTTCGGA: Identity +NM_001105543.2:c.765C>T NP_001099013.1:p.Tyr255= NC_000007.14:132507928:G:A p.(Tyr255=) NC_000007.14:132507928:G:A p.(Tyr255=) NC_000007.14:132507928:G:A Identity +NM_001284301.3:c.1944A>G NP_001271230.1:p.Glu648= NC_000007.14:36420635:A:G p.(Glu648=) NC_000007.14:36420635:A:G p.(Glu648=) NC_000007.14:36420635:A:G Identity +NM_002226.5:c.1683C>T NP_002217.3:p.Ala561= NC_000014.9:105149239:G:A p.(Ala561=) NC_000014.9:105149239:G:A p.(Ala561=) NC_000014.9:105149239:G:A Identity +NM_001079846.1:c.5952G>A NP_001073315.1:p.Gln1984= NC_000016.10:3728980:C:T p.(Gln1984=) NC_000016.10:3728980:C:T p.(Gln1984=) NC_000016.10:3728980:C:T Identity +NM_000516.7:c.27C>G NP_000507.1:p.Thr9= NC_000020.11:58891752:C:G p.(Thr9=) NC_000020.11:58891752:C:G p.(Thr9=) NC_000020.11:58891752:C:G Identity +NM_003356.4:c.279C>G NP_003347.1:p.Ser93= NC_000011.10:74006226:G:C p.(Ser93=) NC_000011.10:74006226:G:C p.(Ser93=) NC_000011.10:74006226:G:C Identity +NM_018534.4:c.2466G>A NP_061004.3:p.Glu822= NC_000002.12:205776270:G:A p.(Glu822=) NC_000002.12:205776270:G:A p.(Glu822=) NC_000002.12:205776270:G:A Identity +NM_001393897.1:c.4884G>C NP_001380826.1:p.Thr1628= NC_000007.14:132146680:C:G p.(Thr1628=) NC_000007.14:132146680:C:G p.(Thr1628=) NC_000007.14:132146680:C:G Identity +NM_014423.4:c.1473A>G NP_055238.1:p.Ser491= NC_000005.10:132897156:T:C p.(Ser491=) NC_000005.10:132897156:T:C p.(Ser491=) NC_000005.10:132897156:T:C Identity +NM_001315529.2:c.5109G>A NP_001302458.1:p.Gln1703= NC_000021.9:46411535:G:A p.(Gln1703=) NC_000021.9:46411535:G:A p.(Gln1703=) NC_000021.9:46411535:G:A Identity +NM_032242.4:c.4071G>T NP_115618.3:p.Leu1357= NC_000003.12:127022116:G:T p.(Leu1357=) NC_000003.12:127022116:G:T p.(Leu1357=) NC_000003.12:127022116:G:T Identity +NM_017514.5:c.1029C>T NP_059984.3:p.Ser343= NC_000023.11:154461532:C:T p.(Ser343=) NC_000023.11:154461532:C:T p.(Ser343=) NC_000023.11:154461532:C:T Identity +NM_019888.3:c.717G>A NP_063941.3:p.Lys239= NC_000020.11:56249559:G:A p.(Lys239=) NC_000020.11:56249559:G:A p.(Lys239=) NC_000020.11:56249559:G:A Identity +NM_001105247.2:c.2374C>T NP_001098717.1:p.Leu792= NC_000016.10:31466454:C:T p.(Leu792=) NC_000016.10:31466454:C:T p.(Leu792=) NC_000016.10:31466454:C:T Identity +NM_001320613.2:c.2013C>A NP_001307542.1:p.Leu671= NC_000002.12:24831703:G:T p.(Leu671=) NC_000002.12:24831703:G:T p.(Leu671=) NC_000002.12:24831703:G:T Identity +NM_001374769.1:c.774G>A NP_001361698.1:p.Gln258= NC_000006.12:100448221:C:T p.(Gln258=) NC_000006.12:100448221:C:T p.(Gln258=) NC_000006.12:100448221:C:T Identity +NM_001350120.2:c.2142A>G NP_001337049.1:p.Ala714= NC_000007.14:80745061:T:C p.(Ala714=) NC_000007.14:80745061:T:C p.(Ala714=) NC_000007.14:80745061:T:C Identity +NM_001318798.2:c.225C>T NP_001305727.1:p.Thr75= NC_000003.12:50174322:C:T p.(Thr75=) NC_000003.12:50174322:C:T p.(Thr75=) NC_000003.12:50174322:C:T Identity +NM_001257194.1:c.1182G>A NP_001244123.1:p.Pro394= NC_000005.10:137637336:C:T p.(Pro394=) NC_000005.10:137637336:C:T p.(Pro394=) NC_000005.10:137637336:C:T Identity +NM_002202.3:c.360T>C NP_002193.2:p.Phe120= NC_000005.10:51387630:T:C p.(Phe120=) NC_000005.10:51387630:T:C p.(Phe120=) NC_000005.10:51387630:T:C Identity +NM_001005914.3:c.564G>A NP_001005914.1:p.Gly188= NC_000003.12:50271379:G:A p.(Gly188=) NC_000003.12:50271379:G:A p.(Gly188=) NC_000003.12:50271379:G:A Identity +NM_004714.3:c.1296C>A NP_004705.1:p.Arg432= NC_000019.10:39826786:G:T p.(Arg432=) NC_000019.10:39826786:G:T p.(Arg432=) NC_000019.10:39826786:G:T Identity +NM_001362843.2:c.5460C>T NP_001349772.1:p.Gly1820= NC_000022.11:41177248:C:T p.(Gly1820=) NC_000022.11:41177248:C:T p.(Gly1820=) NC_000022.11:41177248:C:T Identity +NM_017514.5:c.4380A>G NP_059984.3:p.Arg1460= NC_000023.11:154468914:A:G p.(Arg1460=) NC_000023.11:154468914:A:G p.(Arg1460=) NC_000023.11:154468914:A:G Identity +NM_001304438.2:c.3114G>A NP_001291367.1:p.Glu1038= NC_000017.11:34638120:G:A p.(Glu1038=) NC_000017.11:34638120:G:A p.(Glu1038=) NC_000017.11:34638120:G:A Identity +NM_032242.4:c.744C>T NP_115618.3:p.Tyr248= NC_000003.12:126989336:C:T p.(Tyr248=) NC_000003.12:126989336:C:T p.(Tyr248=) NC_000003.12:126989336:C:T Identity +NM_017934.7:c.1384C>T NP_060404.4:p.Leu462= NC_000006.12:79015634:G:A p.(Leu462=) NC_000006.12:79015634:G:A p.(Leu462=) NC_000006.12:79015634:G:A Identity +NM_000445.5:c.1701T>C NP_000436.2:p.Asp567= NC_000008.11:143932909:A:G p.(Asp567=) NC_000008.11:143932909:A:G p.(Asp567=) NC_000008.11:143932909:A:G Identity +NM_001318800.2:c.156C>T NP_001305729.1:p.Leu52= NC_000003.12:50173835:C:T p.(Leu52=) NC_000003.12:50173835:C:T p.(Leu52=) NC_000003.12:50173835:C:T Identity +NM_001719.3:c.882G>A NP_001710.1:p.Thr294= NC_000020.11:57183797:C:T p.(Thr294=) NC_000020.11:57183797:C:T p.(Thr294=) NC_000020.11:57183797:C:T Identity +NM_017934.7:c.4425C>G NP_060404.4:p.Thr1475= NC_000006.12:78946205:G:C p.(Thr1475=) NC_000006.12:78946205:G:C p.(Thr1475=) NC_000006.12:78946205:G:C Identity +NM_025179.4:c.1710A>G NP_079455.3:p.Ser570= NC_000001.11:208098866:T:C p.(Ser570=) NC_000001.11:208098866:T:C p.(Ser570=) NC_000001.11:208098866:T:C Identity +NM_017514.5:c.1209G>T NP_059984.3:p.Gly403= NC_000023.11:154462201:G:T p.(Gly403=) NC_000023.11:154462201:G:T p.(Gly403=) NC_000023.11:154462201:G:T Identity +NM_001393501.1:c.351C>T NP_001380430.1:p.Asp117= NC_000019.10:18122678:C:T p.(Asp117=) NC_000019.10:18122678:C:T p.(Asp117=) NC_000019.10:18122678:C:T Identity +NM_001318798.2:c.1848G>A NP_001305727.1:p.Pro616= NC_000003.12:50187901:G:A p.(Pro616=) NC_000003.12:50187901:G:A p.(Pro616=) NC_000003.12:50187901:G:A Identity +NM_002291.3:c.4041G>A NP_002282.2:p.Glu1347= NC_000007.14:107935561:C:T p.(Glu1347=) NC_000007.14:107935561:C:T p.(Glu1347=) NC_000007.14:107935561:C:T Identity +NM_001079668.3:c.558G>A NP_001073136.1:p.Leu186= NC_000014.9:36517925:C:T p.(Leu186=) NC_000014.9:36517925:C:T p.(Leu186=) NC_000014.9:36517925:C:T Identity +NM_001376.5:c.13089_13100del NP_001367.2:p.Lys4363_Asp4367delinsAsn NC_000014.9:102047897:AGACGAGGACAGA:A p.(Lys4363_Asp4367delinsAsn) NC_000014.9:102047897:AGACGAGGACAGA:A p.(Lys4363_Asp4367delinsAsn) NC_000014.9:102047898:GACGAGGACAGA: Identity +NM_001202543.2:c.2634_2639dup NP_001189472.1:p.Ser879_Gln880insHisSer NC_000007.14:102201897:CAGTCA:CAGTCACAGTCA p.(Ser879_Gln880insHisSer) NC_000007.14:102201897:CAGTCA:CAGTCACAGTCA p.(Ser879_Gln880insHisSer) ERR:SPDI Identity +NM_006160.4:c.759_773del NP_006151.3:p.Ala254_Gly258del NC_000017.11:39605826:CCCAGGCCGCCGGCC: p.(Ala254_Gly258del) NC_000017.11:39605826:CCCAGGCCGCCGGCC: p.(Ala254_Gly258del) NC_000017.11:39605826:CCCAGGCCGCCGGCC: Identity +NM_002471.4:c.231G>A NP_002462.2:p.Leu77= NC_000014.9:23405740:C:T p.(Leu77=) NC_000014.9:23405740:C:T p.(Leu77=) NC_000014.9:23405740:C:T Identity +NM_001029835.2:c.474_476dup NP_001025006.1:p.Asp159_Ile160insAsp NC_000007.14:45064583:ATGA:ATGATGA p.(Asp159dup) NC_000007.14:45064583:ATGA:ATGATGA p.(Asp159dup) ERR:SPDI Analogous +NM_001197104.1:c.186_194delCGCGGCGGC NP_001184033.1:p.Ala65_Ala67del NC_000011.10:118436691:GGCGGCCGCGGCGGC:GGCGGC ERR:Data provider error: ValueError: Transcript NM_001197104.1 not found ERR:Data provider error: ValueError: Transcript NM_001197104.1 not found ERR:AlignmentMapper(tx_ac=NM_001197104.1, alt_ac=NM_001197104.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001197104.1, alt_ac=NM_001197104.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001197104.1 not found +NM_139058.3:c.346_352delinsGCGGCAG NP_620689.1:p.Thr116_Thr118delinsAlaAlaAla NC_000023.11:25013642:TGGCCGT:CTGCCGC p.(Thr116_Thr118delinsAlaAlaAla) NC_000023.11:25013642:TGGCCGT:CTGCCGC p.(Thr116_Thr118delinsAlaAlaAla) NC_000023.11:25013642:TGGCCGT:CTGCCGC Identity +NM_006734.4:c.4492_4497del NP_006725.3:p.Gln1498_Gly1499del NC_000006.12:142770241:TCCTTGTC:TC p.(Gln1498_Gly1499del) NC_000006.12:142770241:TCCTTGTC:TC p.(Gln1498_Gly1499del) NC_000006.12:142770241:TCCTTG: Identity +NM_004949.5:c.87T>C NP_004940.1:p.Ser29= NC_000018.10:31093625:A:G p.(Ser29=) NC_000018.10:31093625:A:G p.(Ser29=) NC_000018.10:31093625:A:G Identity +NM_001172766.3:c.774T>A NP_001166237.1:p.Ala258= NC_000007.14:114642410:T:A p.(Ala258=) NC_000007.14:114642410:T:A p.(Ala258=) NC_000007.14:114642410:T:A Identity +NM_001003652.4:c.972G>C NP_001003652.1:p.Thr324= NC_000018.10:47848499:C:G p.(Thr324=) NC_000018.10:47848499:C:G p.(Thr324=) NC_000018.10:47848499:C:G Identity +NM_001029896.2:c.1077C>T NP_001025067.1:p.Asp359= NC_000023.11:49074808:G:A p.(Asp359=) NC_000023.11:49074808:G:A p.(Asp359=) NC_000023.11:49074808:G:A Identity +NM_000815.5:c.375C>T NP_000806.2:p.Phe125= NC_000001.11:2025642:C:T p.(Phe125=) NC_000001.11:2025642:C:T p.(Phe125=) NC_000001.11:2025642:C:T Identity +NM_001317184.2:c.756A>T NP_001304113.1:p.Val252= NC_000016.10:68810264:A:T p.(Val252=) NC_000016.10:68810264:A:T p.(Val252=) NC_000016.10:68810264:A:T Identity +NM_001317184.2:c.843G>A NP_001304113.1:p.Val281= NC_000016.10:68811693:G:A p.(Val281=) NC_000016.10:68811693:G:A p.(Val281=) NC_000016.10:68811693:G:A Identity +NM_001317184.2:c.1956T>C NP_001304113.1:p.Ile652= NC_000016.10:68823600:T:C p.(Ile652=) NC_000016.10:68823600:T:C p.(Ile652=) NC_000016.10:68823600:T:C Identity +NM_001317184.2:c.1530T>C NP_001304113.1:p.Gly510= NC_000016.10:68822001:T:C p.(Gly510=) NC_000016.10:68822001:T:C p.(Gly510=) NC_000016.10:68822001:T:C Identity +NM_001317184.2:c.2196T>C NP_001304113.1:p.Ser732= NC_000016.10:68829736:T:C p.(Ser732=) NC_000016.10:68829736:T:C p.(Ser732=) NC_000016.10:68829736:T:C Identity +NM_001317184.2:c.681A>G NP_001304113.1:p.Thr227= NC_000016.10:68808841:A:G p.(Thr227=) NC_000016.10:68808841:A:G p.(Thr227=) NC_000016.10:68808841:A:G Identity +NM_001317184.2:c.63C>G NP_001304113.1:p.Leu21= NC_000016.10:68738310:C:G p.(Leu21=) NC_000016.10:68738310:C:G p.(Leu21=) NC_000016.10:68738310:C:G Identity +NM_001128931.2:c.289_291dup NP_001122403.1:p.Thr97_Ser98insThr NC_000004.12:163166436:GGTG:GGTGGTG p.(Thr97dup) NC_000004.12:163166436:GGTG:GGTGGTG p.(Thr97dup) ERR:SPDI Analogous +NM_001160213.2:c.2382T>A NP_001153685.1:p.Ser794= NC_000016.10:72120100:A:T p.(Ser794=) NC_000016.10:72120100:A:T p.(Ser794=) NC_000016.10:72120100:A:T Identity +NM_005857.5:c.1259_1270dup NP_005848.2:p.Lys423_Lys424insThrPheAlaLys NC_000001.11:40292499:CATTTGCCAAGA:CATTTGCCAAGACATTTGCCAAGA p.(Lys423_Lys424insThrPheAlaLys) NC_000001.11:40292499:CATTTGCCAAGA:CATTTGCCAAGACATTTGCCAAGA p.(Lys423_Lys424insThrPheAlaLys) ERR:SPDI Identity +NM_001127892.2:c.3465C>A NP_001121364.1:p.Ile1155= NC_000016.10:51137330:G:T p.(Ile1155=) NC_000016.10:51137330:G:T p.(Ile1155=) NC_000016.10:51137330:G:T Identity +NM_001171087.3:c.2016G>A NP_001164558.1:p.Gly672= NC_000003.12:184353108:C:T p.(Gly672=) NC_000003.12:184353108:C:T p.(Gly672=) NC_000003.12:184353108:C:T Identity +NM_001734.5:c.363G>C NP_001725.1:p.Thr121= NC_000012.12:7063038:G:C p.(Thr121=) NC_000012.12:7063038:G:C p.(Thr121=) NC_000012.12:7063038:G:C Identity +NM_000540.3:c.13644G>A NP_000531.2:p.Gln4548= NC_000019.10:38567901:G:A p.(Gln4548=) NC_000019.10:38567901:G:A p.(Gln4548=) NC_000019.10:38567901:G:A Identity +NM_000335.5:c.5928T>C NP_000326.2:p.Tyr1976= NC_000003.12:38550440:A:G p.(Tyr1976=) NC_000003.12:38550440:A:G p.(Tyr1976=) NC_000003.12:38550440:A:G Identity +NM_000335.5:c.2250G>A NP_000326.2:p.Gln750= NC_000003.12:38597740:C:T p.(Gln750=) NC_000003.12:38597740:C:T p.(Gln750=) NC_000003.12:38597740:C:T Identity +NM_001040113.2:c.1464G>A NP_001035202.1:p.Glu488= NC_000016.10:15757958:C:T p.(Glu488=) NC_000016.10:15757958:C:T p.(Glu488=) NC_000016.10:15757958:C:T Identity +NM_001040113.2:c.15C>T NP_001035202.1:p.Gly5= NC_000016.10:15838237:G:A p.(Gly5=) NC_000016.10:15838237:G:A p.(Gly5=) NC_000016.10:15838237:G:A Identity +NM_000249.4:c.900C>T NP_000240.1:p.Pro300= NC_000003.12:37020324:C:T p.(Pro300=) NC_000003.12:37020324:C:T p.(Pro300=) NC_000003.12:37020324:C:T Identity +NM_001005242.3:c.1803T>C NP_001005242.2:p.Ile601= NC_000012.12:32822502:A:G p.(Ile601=) NC_000012.12:32822502:A:G p.(Ile601=) NC_000012.12:32822502:A:G Identity +NM_000540.3:c.13719C>T NP_000531.2:p.Ala4573= NC_000019.10:38570665:C:T p.(Ala4573=) NC_000019.10:38570665:C:T p.(Ala4573=) NC_000019.10:38570665:C:T Identity +NM_001040113.2:c.3390C>T NP_001035202.1:p.Leu1130= NC_000016.10:15735502:G:A p.(Leu1130=) NC_000016.10:15735502:G:A p.(Leu1130=) NC_000016.10:15735502:G:A Identity +NM_000384.3:c.1551A>G NP_000375.3:p.Thr517= NC_000002.12:21029704:T:C p.(Thr517=) NC_000002.12:21029704:T:C p.(Thr517=) NC_000002.12:21029704:T:C Identity +NM_000527.5:c.1551C>A NP_000518.1:p.Ser517= NC_000019.10:11113726:C:A p.(Ser517=) NC_000019.10:11113726:C:A p.(Ser517=) NC_000019.10:11113726:C:A Identity +NM_001407240.1:c.1722C>T NP_001394169.1:p.Asn574= NC_000001.11:55059580:C:T p.(Asn574=) NC_000001.11:55059580:C:T p.(Asn574=) NC_000001.11:55059580:C:T Identity +NM_000384.3:c.174T>A NP_000375.3:p.Ala58= NC_000002.12:21042423:A:T p.(Ala58=) NC_000002.12:21042423:A:T p.(Ala58=) NC_000002.12:21042423:A:T Identity +NM_000384.3:c.5832T>C NP_000375.3:p.His1944= NC_000002.12:21011035:A:G p.(His1944=) NC_000002.12:21011035:A:G p.(His1944=) NC_000002.12:21011035:A:G Identity +NM_000457.6:c.1217_1228del NP_000448.3:p.Asn406_Pro409del NC_000020.11:44428418:CCAACACAATGCCCA:CCA p.(Asn406_Pro409del) NC_000020.11:44428418:CCAACACAATGCCCA:CCA p.(Asn406_Pro409del) NC_000020.11:44428421:ACACAATGCCCA: Identity +NM_000384.3:c.6042G>A NP_000375.3:p.Leu2014= NC_000002.12:21010825:C:T p.(Leu2014=) NC_000002.12:21010825:C:T p.(Leu2014=) NC_000002.12:21010825:C:T Identity +NM_001366469.2:c.2586G>A NP_001353398.1:p.Arg862= NC_000003.12:169092971:C:T p.(Arg862=) NC_000003.12:169092971:C:T p.(Arg862=) NC_000003.12:169092971:C:T Identity +NM_001105077.4:c.3315G>A NP_001098547.3:p.Ala1105= NC_000003.12:169084944:C:T p.(Ala1105=) NC_000003.12:169084944:C:T p.(Ala1105=) NC_000003.12:169084944:C:T Identity +NM_005120.3:c.6306_6329del NP_005111.2:p.Gln2108_Gln2115del NC_000023.11:71141253:CAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCA:CAGCAGCAGCAGCA p.(Gln2108_Gln2115del) NC_000023.11:71141253:CAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCA:CAGCAGCAGCAGCA p.(Gln2108_Gln2115del) NC_000023.11:71141267:GCAACAGCAACAGCAGCAGCAGCA: Identity +NM_005120.3:c.2355A>G NP_005111.2:p.Lys785= NC_000023.11:71125478:A:G p.(Lys785=) NC_000023.11:71125478:A:G p.(Lys785=) NC_000023.11:71125478:A:G Identity +NM_005120.3:c.3279A>G NP_005111.2:p.Leu1093= NC_000023.11:71128364:A:G p.(Leu1093=) NC_000023.11:71128364:A:G p.(Leu1093=) NC_000023.11:71128364:A:G Identity +NM_001105077.4:c.1782G>A NP_001098547.3:p.Ser594= NC_000003.12:169115720:C:T p.(Ser594=) NC_000003.12:169115720:C:T p.(Ser594=) NC_000003.12:169115720:C:T Identity +NM_005120.3:c.72T>G NP_005111.2:p.Val24= NC_000023.11:71118825:T:G p.(Val24=) NC_000023.11:71118825:T:G p.(Val24=) NC_000023.11:71118825:T:G Identity +NM_005120.3:c.849C>T NP_005111.2:p.Tyr283= NC_000023.11:71121563:C:T p.(Tyr283=) NC_000023.11:71121563:C:T p.(Tyr283=) NC_000023.11:71121563:C:T Identity +NM_001105077.4:c.2391C>T NP_001098547.3:p.Arg797= NC_000003.12:169102070:G:A p.(Arg797=) NC_000003.12:169102070:G:A p.(Arg797=) NC_000003.12:169102070:G:A Identity +NM_001271938.2:c.2340G>T NP_001258867.1:p.Thr780= NC_000019.10:42349539:G:T p.(Thr780=) NC_000019.10:42349539:G:T p.(Thr780=) NC_000019.10:42349539:G:T Identity +NM_032222.3:c.2187C>T NP_115598.2:p.Asn729= NC_000007.14:30882954:C:T p.(Asn729=) NC_000007.14:30882954:C:T p.(Asn729=) NC_000007.14:30882954:C:T Identity +NM_001297709.2:c.480C>A NP_001284638.1:p.Pro160= NC_000012.12:8648102:G:T p.(Pro160=) NC_000012.12:8648102:G:T p.(Pro160=) NC_000012.12:8648102:G:T Identity +NM_001256053.2:c.318C>T NP_001242982.1:p.Leu106= NC_000010.11:27093723:G:A p.(Leu106=) NC_000010.11:27093723:G:A p.(Leu106=) NC_000010.11:27093723:G:A Identity +NM_001040108.2:c.12C>T NP_001035197.1:p.Cys4= NC_000014.9:75049643:G:A p.(Cys4=) NC_000014.9:75049643:G:A p.(Cys4=) NC_000014.9:75049643:G:A Identity +NM_001256053.2:c.750C>T NP_001242982.1:p.Gly250= NC_000010.11:27079151:G:A p.(Gly250=) NC_000010.11:27079151:G:A p.(Gly250=) NC_000010.11:27079151:G:A Identity +NM_001040108.2:c.4044A>G NP_001035197.1:p.Thr1348= NC_000014.9:75022859:T:C p.(Thr1348=) NC_000014.9:75022859:T:C p.(Thr1348=) NC_000014.9:75022859:T:C Identity +NM_000258.3:c.441T>A NP_000249.1:p.Thr147= NC_000003.12:46859514:A:T p.(Thr147=) NC_000003.12:46859514:A:T p.(Thr147=) NC_000003.12:46859514:A:T Identity +NM_002471.4:c.1689T>C NP_002462.2:p.Asn563= NC_000014.9:23398929:A:G p.(Asn563=) NC_000014.9:23398929:A:G p.(Asn563=) NC_000014.9:23398929:A:G Identity +NM_001256267.2:c.3315A>G NP_001243196.1:p.Thr1105= NC_000010.11:68199396:A:G p.(Thr1105=) NC_000010.11:68199396:A:G p.(Thr1105=) NC_000010.11:68199396:A:G Identity +NM_001256267.2:c.726C>T NP_001243196.1:p.Ala242= NC_000010.11:68122163:C:T p.(Ala242=) NC_000010.11:68122163:C:T p.(Ala242=) NC_000010.11:68122163:C:T Identity +NM_001256267.2:c.3333A>G NP_001243196.1:p.Gln1111= NC_000010.11:68199414:A:G p.(Gln1111=) NC_000010.11:68199414:A:G p.(Gln1111=) NC_000010.11:68199414:A:G Identity +NM_001172309.2:c.1371T>A NP_001165780.1:p.Ala457= NC_000001.11:77942111:T:A p.(Ala457=) NC_000001.11:77942111:T:A p.(Ala457=) NC_000001.11:77942111:T:A Identity +NM_004387.4:c.429G>C NP_004378.1:p.Val143= NC_000005.10:173233114:C:G p.(Val143=) NC_000005.10:173233114:C:G p.(Val143=) NC_000005.10:173233114:C:G Identity +NM_017617.5:c.5826T>C NP_060087.3:p.Asp1942= NC_000009.12:136500659:A:G p.(Asp1942=) NC_000009.12:136500659:A:G p.(Asp1942=) NC_000009.12:136500659:A:G Identity +NM_017617.5:c.3433C>T NP_060087.3:p.Leu1145= NC_000009.12:136508031:G:A p.(Leu1145=) NC_000009.12:136508031:G:A p.(Leu1145=) NC_000009.12:136508031:G:A Identity +NM_001321307.1:c.1725T>C NP_001308236.1:p.Val575= NC_000011.10:108173258:A:G p.(Val575=) NC_000011.10:108173258:A:G p.(Val575=) NC_000011.10:108173258:A:G Identity +NM_001098623.2:c.9411G>T NP_001092093.2:p.Gly3137= NC_000001.11:228286905:G:T p.(Gly3137=) NC_000001.11:228286905:G:T p.(Gly3137=) NC_000001.11:228286905:G:T Identity +NM_001098623.2:c.17394G>A NP_001092093.2:p.Thr5798= NC_000001.11:228340079:G:A p.(Thr5798=) NC_000001.11:228340079:G:A p.(Thr5798=) NC_000001.11:228340079:G:A Identity +NM_001098623.2:c.714A>G NP_001092093.2:p.Ser238= NC_000001.11:228212496:A:G p.(Ser238=) NC_000001.11:228212496:A:G p.(Ser238=) NC_000001.11:228212496:A:G Identity +NM_001098623.2:c.17136G>T NP_001092093.2:p.Leu5712= NC_000001.11:228338903:G:T p.(Leu5712=) NC_000001.11:228338903:G:T p.(Leu5712=) NC_000001.11:228338903:G:T Identity +NM_001001659.3:c.660C>T NP_001001659.1:p.Ile220= NC_000007.14:144129771:C:T p.(Ile220=) NC_000007.14:144129771:C:T p.(Ile220=) NC_000007.14:144129771:C:T Identity +NM_001166108.2:c.1938A>G NP_001159580.1:p.Pro646= NC_000004.12:168711896:A:G p.(Pro646=) NC_000004.12:168711896:A:G p.(Pro646=) NC_000004.12:168711896:A:G Identity +NM_001166598.2:c.564A>G NP_001160070.1:p.Lys188= NC_000011.10:116790664:T:C p.(Lys188=) NC_000011.10:116790664:T:C p.(Lys188=) NC_000011.10:116790664:T:C Identity +NM_001114107.5:c.96T>C NP_001107579.1:p.Ile32= NC_000004.12:185525168:A:G p.(Ile32=) NC_000004.12:185525168:A:G p.(Ile32=) NC_000004.12:185525168:A:G Identity +NM_001135862.3:c.1374G>A NP_001129334.1:p.Thr458= NC_000022.11:44883181:C:T p.(Thr458=) NC_000022.11:44883181:C:T p.(Thr458=) NC_000022.11:44883181:C:T Identity +NM_006218.4:c.132C>T NP_006209.2:p.Thr44= NC_000003.12:179198956:C:T p.(Thr44=) NC_000003.12:179198956:C:T p.(Thr44=) NC_000003.12:179198956:C:T Identity +NM_006218.4:c.2379G>C NP_006209.2:p.Leu793= NC_000003.12:179224783:G:C p.(Leu793=) NC_000003.12:179224783:G:C p.(Leu793=) NC_000003.12:179224783:G:C Identity +NM_006218.4:c.2715T>C NP_006209.2:p.Cys905= NC_000003.12:179230051:T:C p.(Cys905=) NC_000003.12:179230051:T:C p.(Cys905=) NC_000003.12:179230051:T:C Identity +NM_001005476.4:c.513G>A NP_001005476.1:p.Lys171= NC_000002.12:158621330:G:A p.(Lys171=) NC_000002.12:158621330:G:A p.(Lys171=) NC_000002.12:158621330:G:A Identity +NM_199420.4:c.7461C>T NP_955452.3:p.Asn2487= NC_000003.12:121436203:G:A p.(Asn2487=) NC_000003.12:121436203:G:A p.(Asn2487=) NC_000003.12:121436203:G:A Identity +NM_001006634.3:c.1047T>C NP_001006635.1:p.Ser349= NC_000016.10:24949483:A:G p.(Ser349=) NC_000016.10:24949483:A:G p.(Ser349=) NC_000016.10:24949483:A:G Identity +NM_002709.3:c.784T>C NP_002700.1:p.Leu262= NC_000002.12:28793901:T:C p.(Leu262=) NC_000002.12:28793901:T:C p.(Leu262=) NC_000002.12:28793901:T:C Identity +NM_199420.4:c.3288A>T NP_955452.3:p.Pro1096= NC_000003.12:121489642:T:A p.(Pro1096=) NC_000003.12:121489642:T:A p.(Pro1096=) NC_000003.12:121489642:T:A Identity +NM_199420.4:c.3900A>C NP_955452.3:p.Thr1300= NC_000003.12:121489030:T:G p.(Thr1300=) NC_000003.12:121489030:T:G p.(Thr1300=) NC_000003.12:121489030:T:G Identity +NM_199420.4:c.1542T>A NP_955452.3:p.Pro514= NC_000003.12:121511955:A:T p.(Pro514=) NC_000003.12:121511955:A:T p.(Pro514=) NC_000003.12:121511955:A:T Identity +NM_199420.4:c.6783A>C NP_955452.3:p.Pro2261= NC_000003.12:121468366:T:G p.(Pro2261=) NC_000003.12:121468366:T:G p.(Pro2261=) NC_000003.12:121468366:T:G Identity +NM_001081640.2:c.12000A>T NP_001075109.1:p.Ile4000= NC_000008.11:47776932:T:A p.(Ile4000=) NC_000008.11:47776932:T:A p.(Ile4000=) NC_000008.11:47776932:T:A Identity +NM_001040633.2:c.1275T>G NP_001035723.1:p.Val425= NC_000007.14:151565375:A:C p.(Val425=) NC_000007.14:151565375:A:C p.(Val425=) NC_000007.14:151565375:A:C Identity +NM_001081640.2:c.4074C>T NP_001075109.1:p.Leu1358= NC_000008.11:47889219:G:A p.(Leu1358=) NC_000008.11:47889219:G:A p.(Leu1358=) NC_000008.11:47889219:G:A Identity +NM_001081640.2:c.1594A>C NP_001075109.1:p.Arg532= NC_000008.11:47933993:T:G p.(Arg532=) NC_000008.11:47933993:T:G p.(Arg532=) NC_000008.11:47933993:T:G Identity +NM_001374782.1:c.273C>G NP_001361711.1:p.Leu91= NC_000010.11:51074862:C:G p.(Leu91=) NC_000010.11:51074862:C:G p.(Leu91=) NC_000010.11:51074862:C:G Identity +NM_006503.4:c.225C>T NP_006494.1:p.Ala75= NC_000019.10:39972457:C:T p.(Ala75=) NC_000019.10:39972457:C:T p.(Ala75=) NC_000019.10:39972457:C:T Identity +NM_001308268.2:c.324G>A NP_001295197.1:p.Ala108= NC_000007.14:158316840:C:T p.(Ala108=) NC_000007.14:158316840:C:T p.(Ala108=) NC_000007.14:158316840:C:T Identity +NM_001130864.2:c.585G>A NP_001124336.1:p.Arg195= NC_000005.10:160094064:C:T p.(Arg195=) NC_000005.10:160094064:C:T p.(Arg195=) NC_000005.10:160094064:C:T Identity +NM_001164269.2:c.165G>C NP_001157741.1:p.Ala55= NC_000015.10:40701140:G:C p.(Ala55=) NC_000015.10:40701140:G:C p.(Ala55=) NC_000015.10:40701140:G:C Identity +NM_001142548.2:c.1278G>A NP_001136020.1:p.Arg426= NC_000001.11:46272704:G:A p.(Arg426=) NC_000001.11:46272704:G:A p.(Arg426=) NC_000001.11:46272704:G:A Identity +NM_001413017.1:c.1911A>T NP_001399946.1:p.Pro637= NC_000008.11:144513978:T:A p.(Pro637=) NC_000008.11:144513978:T:A p.(Pro637=) NC_000008.11:144513978:T:A Identity +NM_001413017.1:c.1380C>T NP_001399946.1:p.Ile460= NC_000008.11:144515156:G:A p.(Ile460=) NC_000008.11:144515156:G:A p.(Ile460=) NC_000008.11:144515156:G:A Identity +NM_001346599.2:c.2070A>C NP_001333528.1:p.Gly690= NC_000007.14:105567235:A:C p.(Gly690=) NC_000007.14:105567235:A:C p.(Gly690=) NC_000007.14:105567235:A:C Identity +NM_001256820.2:c.522A>G NP_001243749.1:p.Pro174= NC_000001.11:155900417:T:C p.(Pro174=) NC_000001.11:155900417:T:C p.(Pro174=) NC_000001.11:155900417:T:C Identity +NM_001303496.3:c.4719T>C NP_001290425.1:p.Ile1573= NC_000007.14:93131252:A:G p.(Ile1573=) NC_000007.14:93131252:A:G p.(Ile1573=) NC_000007.14:93131252:A:G Identity +NM_006828.4:c.4209A>G NP_006819.2:p.Lys1403= NC_000006.12:100629180:T:C p.(Lys1403=) NC_000006.12:100629180:T:C p.(Lys1403=) NC_000006.12:100629180:T:C Identity +NM_001035.3:c.2952C>T NP_001026.2:p.Ser984= NC_000001.11:237548475:C:T p.(Ser984=) NC_000001.11:237548475:C:T p.(Ser984=) NC_000001.11:237548475:C:T Identity +NM_001303496.3:c.2460C>T NP_001290425.1:p.Ser820= NC_000007.14:93133511:G:A p.(Ser820=) NC_000007.14:93133511:G:A p.(Ser820=) NC_000007.14:93133511:G:A Identity +NM_001303496.3:c.2805T>A NP_001290425.1:p.Ser935= NC_000007.14:93133166:A:T p.(Ser935=) NC_000007.14:93133166:A:T p.(Ser935=) NC_000007.14:93133166:A:T Identity +NM_001303496.3:c.4134T>C NP_001290425.1:p.Asn1378= NC_000007.14:93131837:A:G p.(Asn1378=) NC_000007.14:93131837:A:G p.(Asn1378=) NC_000007.14:93131837:A:G Identity +NM_001363734.1:c.3387G>A NP_001350663.1:p.Arg1129= NC_000020.11:32436281:G:A p.(Arg1129=) NC_000020.11:32436281:G:A p.(Arg1129=) NC_000020.11:32436281:G:A Identity +NM_001293306.2:c.4758C>T NP_001280235.2:p.Ile1586= NC_000003.12:38698458:G:A p.(Ile1586=) NC_000003.12:38698458:G:A p.(Ile1586=) NC_000003.12:38698458:G:A Identity +NM_001037.5:c.174C>T NP_001028.1:p.Thr58= NC_000019.10:35032660:C:T p.(Thr58=) NC_000019.10:35032660:C:T p.(Thr58=) NC_000019.10:35032660:C:T Identity +NM_000335.5:c.3963G>T NP_000326.2:p.Val1321= NC_000003.12:38560425:C:A p.(Val1321=) NC_000003.12:38560425:C:A p.(Val1321=) NC_000003.12:38560425:C:A Identity +NM_001363734.1:c.2880T>C NP_001350663.1:p.Ala960= NC_000020.11:32435774:T:C p.(Ala960=) NC_000020.11:32435774:T:C p.(Ala960=) NC_000020.11:32435774:T:C Identity +NM_001363734.1:c.3030G>C NP_001350663.1:p.Ala1010= NC_000020.11:32435924:G:C p.(Ala1010=) NC_000020.11:32435924:G:C p.(Ala1010=) NC_000020.11:32435924:G:C Identity +NM_173050.5:c.2007C>T NP_766638.2:p.Ser669= NC_000022.11:43214135:G:A p.(Ser669=) NC_000022.11:43214135:G:A p.(Ser669=) NC_000022.11:43214135:G:A Identity +NM_001363734.1:c.2730T>C NP_001350663.1:p.Asn910= NC_000020.11:32435624:T:C p.(Asn910=) NC_000020.11:32435624:T:C p.(Asn910=) NC_000020.11:32435624:T:C Identity +NM_005475.3:c.243C>T NP_005466.1:p.Asp81= NC_000012.12:111418387:C:T p.(Asp81=) NC_000012.12:111418387:C:T p.(Asp81=) NC_000012.12:111418387:C:T Identity +NM_005475.3:c.57G>A NP_005466.1:p.Pro19= NC_000012.12:111418201:G:A p.(Pro19=) NC_000012.12:111418201:G:A p.(Pro19=) NC_000012.12:111418201:G:A Identity +NM_001269039.3:c.420A>G NP_001255968.1:p.Ala140= NC_000010.11:110964777:A:G p.(Ala140=) NC_000010.11:110964777:A:G p.(Ala140=) NC_000010.11:110964777:A:G Identity +NM_001269039.3:c.294G>A NP_001255968.1:p.Arg98= NC_000010.11:110964651:G:A p.(Arg98=) NC_000010.11:110964651:G:A p.(Arg98=) NC_000010.11:110964651:G:A Identity +NM_001345962.2:c.144A>G NP_001332891.1:p.Gln48= NC_000004.12:83470207:T:C p.(Gln48=) NC_000004.12:83470207:T:C p.(Gln48=) NC_000004.12:83470207:T:C Identity +NM_001300868.2:c.276C>T NP_001287797.1:p.Cys92= NC_000011.10:66369198:G:A p.(Cys92=) NC_000011.10:66369198:G:A p.(Cys92=) NC_000011.10:66369198:G:A Identity +NM_005585.5:c.276C>T NP_005576.3:p.Pro92= NC_000015.10:66703533:C:T p.(Pro92=) NC_000015.10:66703533:C:T p.(Pro92=) NC_000015.10:66703533:C:T Identity +NM_001003652.4:c.1299T>C NP_001003652.1:p.Ser433= NC_000018.10:47841931:A:G p.(Ser433=) NC_000018.10:47841931:A:G p.(Ser433=) NC_000018.10:47841931:A:G Identity +NM_007017.3:c.315C>G NP_008948.1:p.Pro105= NC_000005.10:157651763:G:C p.(Pro105=) NC_000005.10:157651763:G:C p.(Pro105=) NC_000005.10:157651763:G:C Identity +NM_001382394.1:c.1686G>C NP_001369323.1:p.Leu562= NC_000002.12:39022720:C:G p.(Leu562=) NC_000002.12:39022720:C:G p.(Leu562=) NC_000002.12:39022720:C:G Identity +NM_001382394.1:c.3930A>G NP_001369323.1:p.Pro1310= NC_000002.12:38985874:T:C p.(Pro1310=) NC_000002.12:38985874:T:C p.(Pro1310=) NC_000002.12:38985874:T:C Identity +NM_001345962.2:c.246T>C NP_001332891.1:p.Phe82= NC_000004.12:83469054:A:G p.(Phe82=) NC_000004.12:83469054:A:G p.(Phe82=) NC_000004.12:83469054:A:G Identity +NM_024867.4:c.3192A>G NP_079143.3:p.Arg1064= NC_000005.10:35740128:A:G p.(Arg1064=) NC_000005.10:35740128:A:G p.(Arg1064=) NC_000005.10:35740128:A:G Identity +NM_152594.3:c.1284C>T NP_689807.1:p.Arg428= NC_000015.10:38351612:C:T p.(Arg428=) NC_000015.10:38351612:C:T p.(Arg428=) NC_000015.10:38351612:C:T Identity +NM_152594.3:c.660T>C NP_689807.1:p.Cys220= NC_000015.10:38349498:T:C p.(Cys220=) NC_000015.10:38349498:T:C p.(Cys220=) NC_000015.10:38349498:T:C Identity +NM_001267722.2:c.147T>C NP_001254651.1:p.His49= NC_000004.12:56469689:T:C p.(His49=) NC_000004.12:56469689:T:C p.(His49=) NC_000004.12:56469689:T:C Identity +NM_001127208.3:c.1821A>G NP_001120680.1:p.Gly607= NC_000004.12:105235762:A:G p.(Gly607=) NC_000004.12:105235762:A:G p.(Gly607=) NC_000004.12:105235762:A:G Identity +NM_001127208.3:c.726G>A NP_001120680.1:p.Val242= NC_000004.12:105234667:G:A p.(Val242=) NC_000004.12:105234667:G:A p.(Val242=) NC_000004.12:105234667:G:A Identity +NM_001329938.2:c.459C>G NP_001316867.1:p.Val153= NC_000014.9:75971611:G:C p.(Val153=) NC_000014.9:75971611:G:C p.(Val153=) NC_000014.9:75971611:G:C Identity +NM_001135599.4:c.171T>C NP_001129071.1:p.Tyr57= NC_000001.11:218346871:T:C p.(Tyr57=) NC_000001.11:218346871:T:C p.(Tyr57=) NC_000001.11:218346871:T:C Identity +NM_000192.3:c.405G>C NP_000183.2:p.Leu135= NC_000012.12:114398677:C:G p.(Leu135=) NC_000012.12:114398677:C:G p.(Leu135=) NC_000012.12:114398677:C:G Identity +NM_001193376.3:c.162C>T NP_001180305.1:p.Cys54= NC_000005.10:1294827:G:A p.(Cys54=) NC_000005.10:1294827:G:A p.(Cys54=) NC_000005.10:1294827:G:A Identity +NM_001365276.2:c.10074G>A NP_001352205.1:p.Leu3358= NC_000006.12:32047983:C:T p.(Leu3358=) NC_000006.12:32047983:C:T p.(Leu3358=) NC_000006.12:32047983:C:T Identity +NM_001365276.2:c.3774C>T NP_001352205.1:p.Phe1258= NC_000006.12:32081635:G:A p.(Phe1258=) NC_000006.12:32081635:G:A p.(Phe1258=) NC_000006.12:32081635:G:A Identity +NM_001184.4:c.7548T>C NP_001175.2:p.Thr2516= NC_000003.12:142457710:A:G p.(Thr2516=) NC_000003.12:142457710:A:G p.(Thr2516=) NC_000003.12:142457710:A:G Identity +NM_001184.4:c.4035T>C NP_001175.2:p.Asp1345= NC_000003.12:142524109:A:G p.(Asp1345=) NC_000003.12:142524109:A:G p.(Asp1345=) NC_000003.12:142524109:A:G Identity +NM_001256850.1:c.35973A>G NP_001243779.1:p.Glu11991= NC_000002.12:178637399:T:C p.(Glu11991=) NC_000002.12:178637399:T:C p.(Glu11991=) NC_000002.12:178637399:T:C Identity +NM_133432.3:c.74490G>A NP_597676.3:p.Leu24830= NC_000002.12:178535304:C:T p.(Leu24830=) NC_000002.12:178535304:C:T p.(Leu24830=) NC_000002.12:178535304:C:T Identity +NM_001256850.1:c.97749A>C NP_001243779.1:p.Leu32583= NC_000002.12:178533942:T:G p.(Leu32583=) NC_000002.12:178533942:T:G p.(Leu32583=) NC_000002.12:178533942:T:G Identity +NM_001256850.1:c.91698A>G NP_001243779.1:p.Ala30566= NC_000002.12:178543351:T:C p.(Ala30566=) NC_000002.12:178543351:T:C p.(Ala30566=) NC_000002.12:178543351:T:C Identity +NM_001256850.1:c.42081A>G NP_001243779.1:p.Glu14027= NC_000002.12:178618453:T:C p.(Glu14027=) NC_000002.12:178618453:T:C p.(Glu14027=) NC_000002.12:178618453:T:C Identity +NM_001256850.1:c.76194A>G NP_001243779.1:p.Thr25398= NC_000002.12:178565014:T:C p.(Thr25398=) NC_000002.12:178565014:T:C p.(Thr25398=) NC_000002.12:178565014:T:C Identity +NM_001256850.1:c.88596A>G NP_001243779.1:p.Val29532= NC_000002.12:178548106:T:C p.(Val29532=) NC_000002.12:178548106:T:C p.(Val29532=) NC_000002.12:178548106:T:C Identity +NM_001271022.2:c.1812G>A NP_001257951.1:p.Ser604= NC_000003.12:48464967:G:A p.(Ser604=) NC_000003.12:48464967:G:A p.(Ser604=) NC_000003.12:48464967:G:A Identity +NM_001256850.1:c.50400C>A NP_001243779.1:p.Ser16800= NC_000002.12:178601766:G:T p.(Ser16800=) NC_000002.12:178601766:G:T p.(Ser16800=) NC_000002.12:178601766:G:T Identity +NM_001256850.1:c.74635T>C NP_001243779.1:p.Leu24879= NC_000002.12:178566573:A:G p.(Leu24879=) NC_000002.12:178566573:A:G p.(Leu24879=) NC_000002.12:178566573:A:G Identity +NM_001256850.1:c.41922T>C NP_001243779.1:p.Thr13974= NC_000002.12:178618704:A:G p.(Thr13974=) NC_000002.12:178618704:A:G p.(Thr13974=) NC_000002.12:178618704:A:G Identity +NM_001256850.1:c.41982T>C NP_001243779.1:p.Tyr13994= NC_000002.12:178618644:A:G p.(Tyr13994=) NC_000002.12:178618644:A:G p.(Tyr13994=) NC_000002.12:178618644:A:G Identity +NM_001256850.1:c.12669G>T NP_001243779.1:p.Val4223= NC_000002.12:178739612:C:A p.(Val4223=) NC_000002.12:178739612:C:A p.(Val4223=) NC_000002.12:178739612:C:A Identity +NM_001256850.1:c.95064A>G NP_001243779.1:p.Glu31688= NC_000002.12:178537121:T:C p.(Glu31688=) NC_000002.12:178537121:T:C p.(Glu31688=) NC_000002.12:178537121:T:C Identity +NM_001256850.1:c.504T>A NP_001243779.1:p.Pro168= NC_000002.12:178800473:A:T p.(Pro168=) NC_000002.12:178800473:A:T p.(Pro168=) NC_000002.12:178800473:A:T Identity +NM_001256850.1:c.74271T>A NP_001243779.1:p.Ile24757= NC_000002.12:178566937:A:T p.(Ile24757=) NC_000002.12:178566937:A:T p.(Ile24757=) NC_000002.12:178566937:A:T Identity +NM_032166.4:c.195C>T NP_115542.2:p.Thr65= NC_000003.12:48447039:C:T p.(Thr65=) NC_000003.12:48447039:C:T p.(Thr65=) NC_000003.12:48447039:C:T Identity +NM_001256850.1:c.71793C>T NP_001243779.1:p.Asn23931= NC_000002.12:178569415:G:A p.(Asn23931=) NC_000002.12:178569415:G:A p.(Asn23931=) NC_000002.12:178569415:G:A Identity +NM_001256850.1:c.48588T>G NP_001243779.1:p.Val16196= NC_000002.12:178607090:A:C p.(Val16196=) NC_000002.12:178607090:A:C p.(Val16196=) NC_000002.12:178607090:A:C Identity +NM_001256850.1:c.57246T>C NP_001243779.1:p.Ile19082= NC_000002.12:178589555:A:G p.(Ile19082=) NC_000002.12:178589555:A:G p.(Ile19082=) NC_000002.12:178589555:A:G Identity +NM_001256850.1:c.96924C>A NP_001243779.1:p.Thr32308= NC_000002.12:178534767:G:T p.(Thr32308=) NC_000002.12:178534767:G:T p.(Thr32308=) NC_000002.12:178534767:G:T Identity +NM_001256850.1:c.78825T>G NP_001243779.1:p.Val26275= NC_000002.12:178562383:A:C p.(Val26275=) NC_000002.12:178562383:A:C p.(Val26275=) NC_000002.12:178562383:A:C Identity +NM_001256850.1:c.95472T>C NP_001243779.1:p.Phe31824= NC_000002.12:178536351:A:G p.(Phe31824=) NC_000002.12:178536351:A:G p.(Phe31824=) NC_000002.12:178536351:A:G Identity +NM_001256850.1:c.63774T>C NP_001243779.1:p.Cys21258= NC_000002.12:178577728:A:G p.(Cys21258=) NC_000002.12:178577728:A:G p.(Cys21258=) NC_000002.12:178577728:A:G Identity +NM_001256850.1:c.43411C>T NP_001243779.1:p.Leu14471= NC_000002.12:178615766:G:A p.(Leu14471=) NC_000002.12:178615766:G:A p.(Leu14471=) NC_000002.12:178615766:G:A Identity +NM_003373.4:c.2286G>A NP_003364.1:p.Arg762= NC_000010.11:74105204:G:A p.(Arg762=) NC_000010.11:74105204:G:A p.(Arg762=) NC_000010.11:74105204:G:A Identity +NM_001282394.3:c.6726C>T NP_001269323.1:p.Ser2242= NC_000009.12:93317617:C:T p.(Ser2242=) NC_000009.12:93317617:C:T p.(Ser2242=) NC_000009.12:93317617:C:T Identity +NM_001282394.3:c.2883G>A NP_001269323.1:p.Thr961= NC_000009.12:93259430:G:A p.(Thr961=) NC_000009.12:93259430:G:A p.(Thr961=) NC_000009.12:93259430:G:A Identity +NM_001282394.3:c.3951G>A NP_001269323.1:p.Pro1317= NC_000009.12:93268663:G:A p.(Pro1317=) NC_000009.12:93268663:G:A p.(Pro1317=) NC_000009.12:93268663:G:A Identity +NM_001282394.3:c.894C>T NP_001269323.1:p.Leu298= NC_000009.12:93230926:C:T p.(Leu298=) NC_000009.12:93230926:C:T p.(Leu298=) NC_000009.12:93230926:C:T Identity +NM_001282394.3:c.2769C>T NP_001269323.1:p.Asp923= NC_000009.12:93259316:C:T p.(Asp923=) NC_000009.12:93259316:C:T p.(Asp923=) NC_000009.12:93259316:C:T Identity +NM_001282394.3:c.4584C>T NP_001269323.1:p.Pro1528= NC_000009.12:93289226:C:T p.(Pro1528=) NC_000009.12:93289226:C:T p.(Pro1528=) NC_000009.12:93289226:C:T Identity +NM_001282394.3:c.2379G>A NP_001269323.1:p.Pro793= NC_000009.12:93257135:G:A p.(Pro793=) NC_000009.12:93257135:G:A p.(Pro793=) NC_000009.12:93257135:G:A Identity +NM_001282394.3:c.5280T>C NP_001269323.1:p.Ala1760= NC_000009.12:93292633:T:C p.(Ala1760=) NC_000009.12:93292633:T:C p.(Ala1760=) NC_000009.12:93292633:T:C Identity +NM_001282394.3:c.4422G>A NP_001269323.1:p.Ala1474= NC_000009.12:93289064:G:A p.(Ala1474=) NC_000009.12:93289064:G:A p.(Ala1474=) NC_000009.12:93289064:G:A Identity +NM_001282394.3:c.6672A>G NP_001269323.1:p.Pro2224= NC_000009.12:93317563:A:G p.(Pro2224=) NC_000009.12:93317563:A:G p.(Pro2224=) NC_000009.12:93317563:A:G Identity +NM_001282394.3:c.2142C>T NP_001269323.1:p.Ser714= NC_000009.12:93256405:C:T p.(Ser714=) NC_000009.12:93256405:C:T p.(Ser714=) NC_000009.12:93256405:C:T Identity +NM_001079.4:c.1422C>T NP_001070.2:p.Tyr474= NC_000002.12:97737604:C:T p.(Tyr474=) NC_000002.12:97737604:C:T p.(Tyr474=) NC_000002.12:97737604:C:T Identity +NM_001367624.2:c.4899C>T NP_001354553.1:p.Ser1633= NC_000016.10:88432368:C:T p.(Ser1633=) NC_000016.10:88432368:C:T p.(Ser1633=) NC_000016.10:88432368:C:T Identity +NM_001367624.2:c.6693C>T NP_001354553.1:p.Gly2231= NC_000016.10:88434162:C:T p.(Gly2231=) NC_000016.10:88434162:C:T p.(Gly2231=) NC_000016.10:88434162:C:T Identity +NM_001082486.2:c.825C>A NP_001075955.2:p.Ser275= NC_000016.10:67658558:G:T p.(Ser275=) NC_000016.10:67658558:G:T p.(Ser275=) NC_000016.10:67658558:G:T Identity +NM_001080454.2:c.141A>G NP_001073923.1:p.Pro47= NC_000012.12:7304471:A:G p.(Pro47=) NC_000012.12:7304471:A:G p.(Pro47=) NC_000012.12:7304471:A:G Identity +NM_001103.4:c.2103C>T NP_001094.1:p.Leu701= NC_000001.11:236755146:C:T p.(Leu701=) NC_000001.11:236755146:C:T p.(Leu701=) NC_000001.11:236755146:C:T Identity +NM_001278616.2:c.6C>T NP_001265545.1:p.Asp2= NC_000002.12:110677989:G:A p.(Asp2=) NC_000002.12:110677989:G:A p.(Asp2=) NC_000002.12:110677989:G:A Identity +NM_000388.4:c.3024C>G NP_000379.3:p.Thr1008= NC_000003.12:122284977:C:G p.(Thr1008=) NC_000003.12:122284977:C:G p.(Thr1008=) NC_000003.12:122284977:C:G Identity +NM_001172895.1:c.39G>A NP_001166366.1:p.Ala13= NC_000007.14:116526625:G:A p.(Ala13=) NC_000007.14:116526625:G:A p.(Ala13=) NC_000007.14:116526625:G:A Identity +NM_001321786.1:c.1602C>T NP_001308715.1:p.Pro534= NC_000003.12:105704062:G:A p.(Pro534=) NC_000003.12:105704062:G:A p.(Pro534=) NC_000003.12:105704062:G:A Identity +NM_005188.4:c.259C>T NP_005179.2:p.Leu87= NC_000011.10:119232510:C:T p.(Leu87=) NC_000011.10:119232510:C:T p.(Leu87=) NC_000011.10:119232510:C:T Identity +NM_015083.4:c.2877G>A NP_055898.1:p.Val959= NC_000017.11:39517469:G:A p.(Val959=) NC_000017.11:39517469:G:A p.(Val959=) NC_000017.11:39517469:G:A Identity +NM_001308176.2:c.933G>A NP_001295105.1:p.Val311= NC_000018.10:27993631:C:T p.(Val311=) NC_000018.10:27993631:C:T p.(Val311=) NC_000018.10:27993631:C:T Identity +NM_015083.4:c.3409C>T NP_055898.1:p.Leu1137= NC_000017.11:39525964:C:T p.(Leu1137=) NC_000017.11:39525964:C:T p.(Leu1137=) NC_000017.11:39525964:C:T Identity +NM_015083.4:c.882C>T NP_055898.1:p.Pro294= NC_000017.11:39462952:C:T p.(Pro294=) NC_000017.11:39462952:C:T p.(Pro294=) NC_000017.11:39462952:C:T Identity +NM_015083.4:c.1461C>T NP_055898.1:p.Ser487= NC_000017.11:39471292:C:T p.(Ser487=) NC_000017.11:39471292:C:T p.(Ser487=) NC_000017.11:39471292:C:T Identity +NM_005502.4:c.6474C>T NP_005493.2:p.Phe2158= NC_000009.12:104785566:G:A p.(Phe2158=) NC_000009.12:104785566:G:A p.(Phe2158=) NC_000009.12:104785566:G:A Identity +NM_130468.4:c.337C>T NP_569735.1:p.Leu113= NC_000015.10:40471549:C:T p.(Leu113=) NC_000015.10:40471549:C:T p.(Leu113=) NC_000015.10:40471549:C:T Identity +NM_005502.4:c.708G>A NP_005493.2:p.Leu236= NC_000009.12:104858533:C:T p.(Leu236=) NC_000009.12:104858533:C:T p.(Leu236=) NC_000009.12:104858533:C:T Identity +NM_000089.4:c.3396C>T NP_000080.2:p.Asp1132= NC_000007.14:94427754:C:T p.(Asp1132=) NC_000007.14:94427754:C:T p.(Asp1132=) NC_000007.14:94427754:C:T Identity +NM_000088.4:c.195C>T NP_000079.2:p.Asn65= NC_000017.11:50199855:G:A p.(Asn65=) NC_000017.11:50199855:G:A p.(Asn65=) NC_000017.11:50199855:G:A Identity +NM_000089.4:c.3906T>C NP_000080.2:p.Ala1302= NC_000007.14:94429381:T:C p.(Ala1302=) NC_000007.14:94429381:T:C p.(Ala1302=) NC_000007.14:94429381:T:C Identity +NM_030907.4:c.264C>T NP_112169.2:p.Thr88= NC_000001.11:16233612:G:A p.(Thr88=) NC_000001.11:16233612:G:A p.(Thr88=) NC_000001.11:16233612:G:A Identity +NM_000089.4:c.2169T>C NP_000080.2:p.Asn723= NC_000007.14:94420425:T:C p.(Asn723=) NC_000007.14:94420425:T:C p.(Asn723=) NC_000007.14:94420425:T:C Identity +NM_000089.4:c.321C>A NP_000080.2:p.Ala107= NC_000007.14:94404596:C:A p.(Ala107=) NC_000007.14:94404596:C:A p.(Ala107=) NC_000007.14:94404596:C:A Identity +NM_000393.5:c.2853G>A NP_000384.2:p.Gly951= NC_000002.12:189051397:C:T p.(Gly951=) NC_000002.12:189051397:C:T p.(Gly951=) NC_000002.12:189051397:C:T Identity +NM_001127384.3:c.909C>T NP_001120856.1:p.Arg303= NC_000010.11:67180454:G:A p.(Arg303=) NC_000010.11:67180454:G:A p.(Arg303=) NC_000010.11:67180454:G:A Identity +NM_001382708.1:c.111G>C NP_001369637.1:p.Arg37= NC_000002.12:219418572:G:C p.(Arg37=) NC_000002.12:219418572:G:C p.(Arg37=) NC_000002.12:219418572:G:C Identity +NM_001382708.1:c.225G>T NP_001369637.1:p.Gly75= NC_000002.12:219418686:G:T p.(Gly75=) NC_000002.12:219418686:G:T p.(Gly75=) NC_000002.12:219418686:G:T Identity +NM_021951.3:c.132C>T NP_068770.2:p.Gly44= NC_000009.12:841969:C:T p.(Gly44=) NC_000009.12:841969:C:T p.(Gly44=) NC_000009.12:841969:C:T Identity +NM_001320893.1:c.957T>C NP_001307822.1:p.Ile319= NC_000002.12:25246175:A:G p.(Ile319=) NC_000002.12:25246175:A:G p.(Ile319=) NC_000002.12:25246175:A:G Identity +NM_053046.4:c.294G>T NP_444274.1:p.Ala98= NC_000019.10:40800865:G:T p.(Ala98=) NC_000019.10:40800865:G:T p.(Ala98=) NC_000019.10:40800865:G:T Identity +NM_053046.4:c.876C>G NP_444274.1:p.Leu292= NC_000019.10:40806586:C:G p.(Leu292=) NC_000019.10:40806586:C:G p.(Leu292=) NC_000019.10:40806586:C:G Identity +NM_001201478.2:c.1305A>G NP_001188407.1:p.Leu435= NC_000001.11:206593625:T:C p.(Leu435=) NC_000001.11:206593625:T:C p.(Leu435=) NC_000001.11:206593625:T:C Identity +NM_000118.4:c.1176C>T NP_000109.1:p.Pro392= NC_000009.12:127819995:G:A p.(Pro392=) NC_000009.12:127819995:G:A p.(Pro392=) NC_000009.12:127819995:G:A Identity +NM_001430.5:c.1713C>T NP_001421.2:p.Phe571= NC_000002.12:46380384:C:T p.(Phe571=) NC_000002.12:46380384:C:T p.(Phe571=) NC_000002.12:46380384:C:T Identity +NM_001430.5:c.1986G>A NP_001421.2:p.Leu662= NC_000002.12:46380657:G:A p.(Leu662=) NC_000002.12:46380657:G:A p.(Leu662=) NC_000002.12:46380657:G:A Identity +NM_004444.5:c.1977T>G NP_004435.3:p.Arg659= NC_000007.14:100812887:A:C p.(Arg659=) NC_000007.14:100812887:A:C p.(Arg659=) NC_000007.14:100812887:A:C Identity +NM_004444.5:c.2079A>C NP_004435.3:p.Thr693= NC_000007.14:100812785:T:G p.(Thr693=) NC_000007.14:100812785:T:G p.(Thr693=) NC_000007.14:100812785:T:G Identity +NM_001350929.2:c.6783C>G NP_001337858.1:p.Leu2261= NC_000014.9:104948367:G:C p.(Leu2261=) NC_000014.9:104948367:G:C p.(Leu2261=) NC_000014.9:104948367:G:C Identity +NM_000138.5:c.8124T>C NP_000129.3:p.Asn2708= NC_000015.10:48412670:A:G p.(Asn2708=) NC_000015.10:48412670:A:G p.(Asn2708=) NC_000015.10:48412670:A:G Identity +NM_001039885.3:c.1227A>G NP_001034974.1:p.Glu409= NC_000019.10:46756676:A:G p.(Glu409=) NC_000019.10:46756676:A:G p.(Glu409=) NC_000019.10:46756676:A:G Identity +NM_001127487.2:c.6567T>C NP_001120959.1:p.Phe2189= NC_000007.14:128854154:T:C p.(Phe2189=) NC_000007.14:128854154:T:C p.(Phe2189=) NC_000007.14:128854154:T:C Identity +NM_000817.3:c.1065G>A NP_000808.2:p.Pro355= NC_000002.12:170847737:G:A p.(Pro355=) NC_000002.12:170847737:G:A p.(Pro355=) NC_000002.12:170847737:G:A Identity +NM_001145661.2:c.300G>T NP_001139133.1:p.Gly100= NC_000003.12:128486297:C:A p.(Gly100=) NC_000003.12:128486297:C:A p.(Gly100=) NC_000003.12:128486297:C:A Identity +NM_001014431.2:c.450T>C NP_001014431.1:p.Phe150= NC_000014.9:104775192:A:G p.(Phe150=) NC_000014.9:104775192:A:G p.(Phe150=) NC_000014.9:104775192:A:G Identity +NM_001014431.2:c.261C>G NP_001014431.1:p.Thr87= NC_000014.9:104776684:G:C p.(Thr87=) NC_000014.9:104776684:G:C p.(Thr87=) NC_000014.9:104776684:G:C Identity +NM_001493.3:c.1137G>A NP_001484.1:p.Lys379= NC_000023.11:154442373:G:A p.(Lys379=) NC_000023.11:154442373:G:A p.(Lys379=) NC_000023.11:154442373:G:A Identity +NM_001308093.3:c.264A>C NP_001295022.1:p.Gly88= NC_000008.11:11708575:A:C p.(Gly88=) NC_000008.11:11708575:A:C p.(Gly88=) NC_000008.11:11708575:A:C Identity +NM_015044.4:c.177C>T NP_055859.1:p.Gly59= NC_000016.10:23494377:G:A p.(Gly59=) NC_000016.10:23494377:G:A p.(Gly59=) NC_000016.10:23494377:G:A Identity +NM_001127215.3:c.1170C>T NP_001120687.1:p.His390= NC_000001.11:92476127:G:A p.(His390=) NC_000001.11:92476127:G:A p.(His390=) NC_000001.11:92476127:G:A Identity +NM_001127215.3:c.93T>C NP_001120687.1:p.Asn31= NC_000001.11:92483394:A:G p.(Asn31=) NC_000001.11:92483394:A:G p.(Asn31=) NC_000001.11:92483394:A:G Identity +NM_001282424.3:c.1590C>G NP_001269353.2:p.Gly530= NC_000012.12:8857543:C:G p.(Gly530=) NC_000012.12:8857543:C:G p.(Gly530=) NC_000012.12:8857543:C:G Identity +NM_001018837.2:c.615A>G NP_001018238.1:p.Pro205= NC_000001.11:154275619:A:G p.(Pro205=) NC_000001.11:154275619:A:G p.(Pro205=) NC_000001.11:154275619:A:G Identity +NM_005477.3:c.591C>A NP_005468.1:p.Gly197= NC_000015.10:73367679:G:T p.(Gly197=) NC_000015.10:73367679:G:T p.(Gly197=) NC_000015.10:73367679:G:T Identity +NM_005477.3:c.669A>G NP_005468.1:p.Gln223= NC_000015.10:73367601:T:C p.(Gln223=) NC_000015.10:73367601:T:C p.(Gln223=) NC_000015.10:73367601:T:C Identity +NM_001113239.3:c.1593C>T NP_001106710.1:p.His531= NC_000007.14:139626626:G:A p.(His531=) NC_000007.14:139626626:G:A p.(His531=) NC_000007.14:139626626:G:A Identity +NM_001126102.3:c.465G>A NP_001119574.1:p.Ala155= NC_000016.10:72060310:G:A p.(Ala155=) NC_000016.10:72060310:G:A p.(Ala155=) NC_000016.10:72060310:G:A Identity +NM_052947.4:c.6348A>G NP_443179.3:p.Lys2116= NC_000018.10:58481987:T:C p.(Lys2116=) NC_000018.10:58481987:T:C p.(Lys2116=) NC_000018.10:58481987:T:C Identity +NM_052947.4:c.1467A>G NP_443179.3:p.Glu489= NC_000018.10:58579308:T:C p.(Glu489=) NC_000018.10:58579308:T:C p.(Glu489=) NC_000018.10:58579308:T:C Identity +NM_001352773.2:c.1242A>T NP_001339702.1:p.Thr414= NC_000017.11:41763237:T:A p.(Thr414=) NC_000017.11:41763237:T:A p.(Thr414=) NC_000017.11:41763237:T:A Identity +NM_001378969.1:c.963G>C NP_001365898.1:p.Leu321= NC_000001.11:111981763:C:G p.(Leu321=) NC_000001.11:111981763:C:G p.(Leu321=) NC_000001.11:111981763:C:G Identity +NM_052947.4:c.3318G>C NP_443179.3:p.Leu1106= NC_000018.10:58536868:C:G p.(Leu1106=) NC_000018.10:58536868:C:G p.(Leu1106=) NC_000018.10:58536868:C:G Identity +NM_001352773.2:c.1104G>T NP_001339702.1:p.Leu368= NC_000017.11:41764766:C:A p.(Leu368=) NC_000017.11:41764766:C:A p.(Leu368=) NC_000017.11:41764766:C:A Identity +NM_001009999.3:c.516G>A NP_001009999.1:p.Ser172= NC_000001.11:23030632:G:A p.(Ser172=) NC_000001.11:23030632:G:A p.(Ser172=) NC_000001.11:23030632:G:A Identity +NM_001009999.3:c.837T>C NP_001009999.1:p.His279= NC_000001.11:23055114:T:C p.(His279=) NC_000001.11:23055114:T:C p.(His279=) NC_000001.11:23055114:T:C Identity +NM_000238.4:c.816C>A NP_000229.1:p.Ser272= NC_000007.14:150958158:G:T p.(Ser272=) NC_000007.14:150958158:G:T p.(Ser272=) NC_000007.14:150958158:G:T Identity +NM_000890.5:c.648C>T NP_000881.3:p.Cys216= NC_000011.10:128911920:C:T p.(Cys216=) NC_000011.10:128911920:C:T p.(Cys216=) NC_000011.10:128911920:C:T Identity +NM_001009999.3:c.1788G>C NP_001009999.1:p.Ser596= NC_000001.11:23077280:G:C p.(Ser596=) NC_000001.11:23077280:G:C p.(Ser596=) NC_000001.11:23077280:G:C Identity +NM_001365951.3:c.2238G>A NP_001352880.1:p.Leu746= NC_000001.11:10321736:G:A p.(Leu746=) NC_000001.11:10321736:G:A p.(Leu746=) NC_000001.11:10321736:G:A Identity +NM_000238.4:c.267C>A NP_000229.1:p.Ala89= NC_000007.14:150974750:G:T p.(Ala89=) NC_000007.14:150974750:G:T p.(Ala89=) NC_000007.14:150974750:G:T Identity +NM_000891.3:c.1206G>C NP_000882.1:p.Thr402= NC_000017.11:70176244:G:C p.(Thr402=) NC_000017.11:70176244:G:C p.(Thr402=) NC_000017.11:70176244:G:C Identity +NM_020778.5:c.4215A>C NP_065829.4:p.Arg1405= NC_000015.10:84862719:A:C p.(Arg1405=) NC_000015.10:84862719:A:C p.(Arg1405=) NC_000015.10:84862719:A:C Identity +NM_001369786.1:c.102A>T NP_001356715.1:p.Pro34= NC_000012.12:25245282:T:A p.(Pro34=) NC_000012.12:25245282:T:A p.(Pro34=) NC_000012.12:25245282:T:A Identity +NM_001365951.3:c.1611C>T NP_001352880.1:p.Leu537= NC_000001.11:10295105:C:T p.(Leu537=) NC_000001.11:10295105:C:T p.(Leu537=) NC_000001.11:10295105:C:T Identity +NM_001365951.3:c.2862T>C NP_001352880.1:p.Asp954= NC_000001.11:10326296:T:C p.(Asp954=) NC_000001.11:10326296:T:C p.(Asp954=) NC_000001.11:10326296:T:C Identity +NM_001369786.1:c.81T>C NP_001356715.1:p.His27= NC_000012.12:25245303:A:G p.(His27=) NC_000012.12:25245303:A:G p.(His27=) NC_000012.12:25245303:A:G Identity +NM_002317.7:c.114T>G NP_002308.2:p.Ala38= NC_000005.10:122077871:A:C p.(Ala38=) NC_000005.10:122077871:A:C p.(Ala38=) NC_000005.10:122077871:A:C Identity +NM_000237.3:c.915T>C NP_000228.1:p.Cys305= NC_000008.11:19955979:T:C p.(Cys305=) NC_000008.11:19955979:T:C p.(Cys305=) NC_000008.11:19955979:T:C Identity +NM_001127493.3:c.3600C>T NP_001120965.1:p.Ile1200= NC_000004.12:113336611:C:T p.(Ile1200=) NC_000004.12:113336611:C:T p.(Ile1200=) NC_000004.12:113336611:C:T Identity +NM_198578.4:c.6534G>A NP_940980.4:p.Gln2178= NC_000012.12:40351690:G:A p.(Gln2178=) NC_000012.12:40351690:G:A p.(Gln2178=) NC_000012.12:40351690:G:A Identity +NM_198578.4:c.411G>A NP_940980.4:p.Lys137= NC_000012.12:40235688:G:A p.(Lys137=) NC_000012.12:40235688:G:A p.(Lys137=) NC_000012.12:40235688:G:A Identity +NM_005911.6:c.825T>A NP_005902.1:p.Gly275= NC_000002.12:85542620:T:A p.(Gly275=) NC_000002.12:85542620:T:A p.(Gly275=) NC_000002.12:85542620:T:A Identity +NM_001199867.2:c.270C>T NP_001186796.1:p.Ile90= NC_000019.10:45263129:C:T p.(Ile90=) NC_000019.10:45263129:C:T p.(Ile90=) NC_000019.10:45263129:C:T Identity +NM_001256182.2:c.5799G>C NP_001243111.1:p.Pro1933= NC_000016.10:89280742:C:G p.(Pro1933=) NC_000016.10:89280742:C:G p.(Pro1933=) NC_000016.10:89280742:C:G Identity +NM_033071.5:c.16557A>G NP_149062.2:p.Leu5519= NC_000006.12:152310813:T:C p.(Leu5519=) NC_000006.12:152310813:T:C p.(Leu5519=) NC_000006.12:152310813:T:C Identity +NM_001166695.3:c.1053G>A NP_001160167.1:p.Gly351= NC_000005.10:36679818:G:A p.(Gly351=) NC_000005.10:36679818:G:A p.(Gly351=) NC_000005.10:36679818:G:A Identity +NM_001411025.1:c.1683G>A NP_001397954.1:p.Leu561= NC_000011.10:66705828:C:T p.(Leu561=) NC_000011.10:66705828:C:T p.(Leu561=) NC_000011.10:66705828:C:T Identity +NM_000518.5:c.126_129dup NP_000509.1:p.Glu44delinsLeuTer NC_000011.10:5226762:AAAGAA:AAAGAAAGAA p.(Glu44LeufsTer2) NC_000011.10:5226762:AAAGAA:AAAGAAAGAA p.(Glu44LeufsTer2) ERR:SPDI Analogous +NM_006593.4:c.431_445del NP_006584.1:p.Arg144_His148del NC_000002.12:161416838:CCGCTACATGGCCCACC:CC p.(Arg144_His148del) NC_000002.12:161416838:CCGCTACATGGCCCACC:CC p.(Arg144_His148del) NC_000002.12:161416840:GCTACATGGCCCACC: Identity +NM_033071.5:c.1974T>C NP_149062.2:p.Pro658= NC_000006.12:152463496:A:G p.(Pro658=) NC_000006.12:152463496:A:G p.(Pro658=) NC_000006.12:152463496:A:G Identity +NM_004982.4:c.99A>G NP_004973.1:p.Lys33= NC_000012.12:21773517:T:C p.(Lys33=) NC_000012.12:21773517:T:C p.(Lys33=) NC_000012.12:21773517:T:C Identity +NM_002848.4:c.1470C>T NP_002839.1:p.Asn490= NC_000012.12:15515502:C:T p.(Asn490=) NC_000012.12:15515502:C:T p.(Asn490=) NC_000012.12:15515502:C:T Identity +NM_003482.4:c.14442C>G NP_003473.3:p.Ser4814= NC_000012.12:49028081:G:C p.(Ser4814=) NC_000012.12:49028081:G:C p.(Ser4814=) NC_000012.12:49028081:G:C Identity +NM_001303110.2:c.84G>A NP_001290039.1:p.Lys28= NC_000013.11:110306943:C:T p.(Lys28=) NC_000013.11:110306943:C:T p.(Lys28=) NC_000013.11:110306943:C:T Identity +NM_000743.5:c.402C>T NP_000734.2:p.Asp134= NC_000015.10:78602239:G:A p.(Asp134=) NC_000015.10:78602239:G:A p.(Asp134=) NC_000015.10:78602239:G:A Identity +NM_001113378.2:c.2046C>T NP_001106849.1:p.Val682= NC_000015.10:89292740:C:T p.(Val682=) NC_000015.10:89292740:C:T p.(Val682=) NC_000015.10:89292740:C:T Identity +NM_000296.4:c.5012_5017del NP_000287.4:p.Asp1671_Arg1672del NC_000016.10:2110149:CCCTGTCCCT:CCCT p.(Asp1671_Arg1672del) NC_000016.10:2110149:CCCTGTCCCT:CCCT p.(Asp1671_Arg1672del) NC_000016.10:2110149:CCCTGT: Identity +NM_000296.4:c.4947G>A NP_000287.4:p.Thr1649= NC_000016.10:2110219:C:T p.(Thr1649=) NC_000016.10:2110219:C:T p.(Thr1649=) NC_000016.10:2110219:C:T Identity +NM_000296.4:c.1416T>A NP_000287.4:p.Thr472= NC_000016.10:2117022:A:T p.(Thr472=) NC_000016.10:2117022:A:T p.(Thr472=) NC_000016.10:2117022:A:T Identity +NM_004380.3:c.1287T>A NP_004371.2:p.Val429= NC_000016.10:3792023:A:T p.(Val429=) NC_000016.10:3792023:A:T p.(Val429=) NC_000016.10:3792023:A:T Identity +NM_001321299.2:c.1176G>A NP_001308228.1:p.Ser392= NC_000017.11:42793617:G:A p.(Ser392=) NC_000017.11:42793617:G:A p.(Ser392=) NC_000017.11:42793617:G:A Identity +NM_001321299.2:c.2619C>T NP_001308228.1:p.Gly873= NC_000017.11:42796317:C:T p.(Gly873=) NC_000017.11:42796317:C:T p.(Gly873=) NC_000017.11:42796317:C:T Identity +NM_001257197.2:c.1716A>G NP_001244126.1:p.Lys572= NC_000002.12:224482006:T:C p.(Lys572=) NC_000002.12:224482006:T:C p.(Lys572=) NC_000002.12:224482006:T:C Identity +NM_001128929.3:c.753G>A NP_001122401.1:p.Val251= NC_000003.12:77493280:G:A p.(Val251=) NC_000003.12:77493280:G:A p.(Val251=) NC_000003.12:77493280:G:A Identity +NM_001291285.3:c.5553T>A NP_001278214.1:p.Pro1851= NC_000004.12:125407124:T:A p.(Pro1851=) NC_000004.12:125407124:T:A p.(Pro1851=) NC_000004.12:125407124:T:A Identity +NM_000176.3:c.1611G>A NP_000167.1:p.Glu537= NC_000005.10:143300620:C:T p.(Glu537=) NC_000005.10:143300620:C:T p.(Glu537=) NC_000005.10:143300620:C:T Identity +NM_001365684.2:c.5655G>A NP_001352613.2:p.Glu1885= NC_000005.10:177293895:G:A p.(Glu1885=) NC_000005.10:177293895:G:A p.(Glu1885=) NC_000005.10:177293895:G:A Identity +NM_012120.3:c.61C>A NP_036252.1:p.Arg21= NC_000006.12:47503335:C:A p.(Arg21=) NC_000006.12:47503335:C:A p.(Arg21=) NC_000006.12:47503335:C:A Identity +NM_001301128.2:c.4046_4049delinsTGGT NP_001288057.1:p.Ala1349_Gly1350delinsValVal NC_000007.14:78019591:CCCG:ACCA p.(Ala1349_Gly1350delinsValVal) NC_000007.14:78019591:CCCG:ACCA p.(Ala1349_Gly1350delinsValVal) NC_000007.14:78019591:CCCG:ACCA Identity +NM_001164271.2:c.2514G>A NP_001157743.1:p.Ser838= NC_000008.11:13090278:C:T p.(Ser838=) NC_000008.11:13090278:C:T p.(Ser838=) NC_000008.11:13090278:C:T Identity +NM_001177316.2:c.318A>G NP_001170787.2:p.Gly106= NC_000009.12:137232796:A:G p.(Gly106=) NC_000009.12:137232796:A:G p.(Gly106=) NC_000009.12:137232796:A:G Identity +NM_001256324.2:c.880_885dup NP_001243253.1:p.Gly295_Pro296insGlyGly NC_000017.11:50572683:GGCGGTGGC:GGCGGTGGCGGTGGC p.(Gly294_Gly295dup) NC_000017.11:50572683:GGCGGTGGC:GGCGGTGGCGGTGGC p.(Gly294_Gly295dup) ERR:SPDI Analogous +NM_000462.5:c.324_328del NP_000453.2:p.Cys108_Glu110delinsTer NC_000015.10:25375506:CAGAGCAG:CAG p.(Cys108Ter) NC_000015.10:25375506:CAGAGCAG:CAG p.(Cys108Ter) NC_000015.10:25375506:CAGAG: Analogous +NM_000368.5:c.69_89dup NP_000359.1:p.Phe29_Lys30insAsnAspValThrAlaValPhe NC_000009.12:132928783:TTAAAGACAGCTGTCACGTCGT:TTAAAGACAGCTGTCACGTCGTTAAAGACAGCTGTCACGTCGT p.(Phe29_Lys30insAsnAspValThrAlaValPhe) NC_000009.12:132928783:TTAAAGACAGCTGTCACGTCGT:TTAAAGACAGCTGTCACGTCGTTAAAGACAGCTGTCACGTCGT p.(Phe29_Lys30insAsnAspValThrAlaValPhe) ERR:SPDI Identity +NM_001363864.1:c.384A>T NP_001350793.1:p.Ala128= NC_000002.12:60545971:T:A p.(Ala128=) NC_000002.12:60545971:T:A p.(Ala128=) NC_000002.12:60545971:T:A Identity +NM_006796.3:c.2067_2068del NP_006787.2:p.Tyr689_Ser690delinsTer NC_000018.10:12337447:TGT:T p.(Tyr689Ter) NC_000018.10:12337447:TGT:T p.(Tyr689Ter) NC_000018.10:12337447:TG: Analogous +NM_172364.5:c.3354G>A NP_758952.4:p.Ser1118= NC_000012.12:1793714:C:T p.(Ser1118=) NC_000012.12:1793714:C:T p.(Ser1118=) NC_000012.12:1793714:C:T Identity +NM_000726.5:c.54C>A NP_000717.2:p.Pro18= NC_000002.12:152098957:G:T p.(Pro18=) NC_000002.12:152098957:G:T p.(Pro18=) NC_000002.12:152098957:G:T Identity +NM_001040113.2:c.933C>T NP_001035202.1:p.Phe311= NC_000016.10:15771689:G:A p.(Phe311=) NC_000016.10:15771689:G:A p.(Phe311=) NC_000016.10:15771689:G:A Identity +NM_003036.4:c.1887G>A NP_003027.1:p.Glu629= NC_000001.11:2306138:G:A p.(Glu629=) NC_000001.11:2306138:G:A p.(Glu629=) NC_000001.11:2306138:G:A Identity +NM_001345962.2:c.169T>C NP_001332891.1:p.Leu57= NC_000004.12:83469131:A:G p.(Leu57=) NC_000004.12:83469131:A:G p.(Leu57=) NC_000004.12:83469131:A:G Identity +NM_001379277.1:c.4356G>T NP_001366206.1:p.Arg1452= NC_000007.14:92095154:G:T p.(Arg1452=) NC_000007.14:92095154:G:T p.(Arg1452=) NC_000007.14:92095154:G:T Identity +NM_015384.5:c.6243C>T NP_056199.2:p.Gly2081= NC_000005.10:37044480:C:T p.(Gly2081=) NC_000005.10:37044480:C:T p.(Gly2081=) NC_000005.10:37044480:C:T Identity +NM_001136029.4:c.2465_2466insAGA NP_001129501.1:p.Ser822delinsArgAsp NC_000022.11:31838822::AGA p.(Ser822delinsArgAsp) NC_000022.11:31838821:G:AGA p.(Ser822delinsArgAsp) NC_000022.11:31838822:GC:AGA Identity +NM_001278716.2:c.666A>C NP_001265645.1:p.Ala222= NC_000006.12:98917565:T:G p.(Ala222=) NC_000006.12:98917565:T:G p.(Ala222=) NC_000006.12:98917565:T:G Identity +NM_001368263.1:c.1452C>T NP_001355192.1:p.Ile484= NC_000003.12:45491728:C:T p.(Ile484=) NC_000003.12:45491728:C:T p.(Ile484=) NC_000003.12:45491728:C:T Identity +NM_001039550.2:c.249A>G NP_001034639.1:p.Ala83= NC_000002.12:219281957:A:G p.(Ala83=) NC_000002.12:219281957:A:G p.(Ala83=) NC_000002.12:219281957:A:G Identity +NM_006796.3:c.1233G>A NP_006787.2:p.Ala411= NC_000018.10:12353089:C:T p.(Ala411=) NC_000018.10:12353089:C:T p.(Ala411=) NC_000018.10:12353089:C:T Identity +NM_000425.5:c.1444C>T NP_000416.1:p.Leu482= NC_000023.11:153868662:G:A p.(Leu482=) NC_000023.11:153868662:G:A p.(Leu482=) NC_000023.11:153868662:G:A Identity +NM_001346599.2:c.1716G>A NP_001333528.1:p.Pro572= NC_000007.14:105565339:G:A p.(Pro572=) NC_000007.14:105565339:G:A p.(Pro572=) NC_000007.14:105565339:G:A Identity +NM_024642.5:c.1440T>C NP_078918.3:p.His480= NC_000009.12:98844190:T:C p.(His480=) NC_000009.12:98844190:T:C p.(His480=) NC_000009.12:98844190:T:C Identity +NM_017617.5:c.6564C>A NP_060087.3:p.Gly2188= NC_000009.12:136497174:G:T p.(Gly2188=) NC_000009.12:136497174:G:T p.(Gly2188=) NC_000009.12:136497174:G:T Identity +NM_001114331.3:c.1260C>T NP_001107803.1:p.Gly420= NC_000016.10:1452775:G:A p.(Gly420=) NC_000016.10:1452775:G:A p.(Gly420=) NC_000016.10:1452775:G:A Identity +NM_001130455.2:c.510G>A NP_001123927.1:p.Glu170= NC_000002.12:71513764:G:A p.(Glu170=) NC_000002.12:71513764:G:A p.(Glu170=) NC_000002.12:71513764:G:A Identity +NM_000313.4:c.228G>A NP_000304.2:p.Pro76= NC_000003.12:93927255:C:T p.(Pro76=) NC_000003.12:93927255:C:T p.(Pro76=) NC_000003.12:93927255:C:T Identity +NM_000238.4:c.2385C>T NP_000229.1:p.Val795= NC_000007.14:150950180:G:A p.(Val795=) NC_000007.14:150950180:G:A p.(Val795=) NC_000007.14:150950180:G:A Identity +NM_002764.4:c.69G>A NP_002755.1:p.Leu23= NC_000023.11:107628696:G:A p.(Leu23=) NC_000023.11:107628696:G:A p.(Leu23=) NC_000023.11:107628696:G:A Identity +NM_002427.4:c.251_268dup NP_002418.1:p.Asp84_Asp89dup NC_000011.10:102955345:CATCTAAGGTGTTATCGTCA:CATCTAAGGTGTTATCGTCATCTAAGGTGTTATCGTCA p.(Asp84_Asp89dup) NC_000011.10:102955345:CATCTAAGGTGTTATCGTCA:CATCTAAGGTGTTATCGTCATCTAAGGTGTTATCGTCA p.(Asp84_Asp89dup) ERR:SPDI Identity +NM_001291902.2:c.3093G>A NP_001278831.1:p.Thr1031= NC_000011.10:68449057:G:A p.(Thr1031=) NC_000011.10:68449057:G:A p.(Thr1031=) NC_000011.10:68449057:G:A Identity +NM_000118.4:c.666_683del18 NP_000109.1:p.Val223_Ser228del NC_000009.12:127825698:CCGAGTGGCCCGGCAGGACC:CC p.(Val223_Ser228del) NC_000009.12:127825698:CCGAGTGGCCCGGCAGGACC:CC p.(Val223_Ser228del) NC_000009.12:127825700:GAGTGGCCCGGCAGGACC: Identity +NM_006231.4:c.6135C>A NP_006222.2:p.Pro2045= NC_000012.12:132632664:G:T p.(Pro2045=) NC_000012.12:132632664:G:T p.(Pro2045=) NC_000012.12:132632664:G:T Identity +NM_001317195.3:c.774_779del NP_001304124.1:p.His258_Ser259del NC_000016.10:68679877:CCATAGCCA:CCA p.(His258_Ser259del) NC_000016.10:68679877:CCATAGCCA:CCA p.(His258_Ser259del) NC_000016.10:68679880:TAGCCA: Identity +NM_001036.6:c.10155C>T NP_001027.3:p.Gly3385= NC_000015.10:33810606:C:T p.(Gly3385=) NC_000015.10:33810606:C:T p.(Gly3385=) NC_000015.10:33810606:C:T Identity +NM_001256849.1:c.151CAGGAG[3] NP_001243778.1:p.51QE[3] NC_000019.10:50399000:GCAGGAGCAGGAG:GCAGGAGCAGGAGCAGGAG p.(Gln53_Glu54dup) NC_000019.10:50399001:C:CAGGAGCAGGAGCAGGAG ERR:Parse ERR:Parse Analogous +NM_000540.3:c.12659_12670del NP_000531.2:p.Val4220_Glu4223del NC_000019.10:38564991:GTGGTGAACGAGG:G p.(Val4220_Glu4223del) NC_000019.10:38564991:GTGGTGAACGAGG:G p.(Val4220_Glu4223del) NC_000019.10:38564992:TGGTGAACGAGG: Identity +NM_001178010.2:c.1796A>G NP_001171481.1:p.Ter599Trp NC_000022.11:19518906:A:G p.(Ter599TrpextTer13) NC_000022.11:19518906:A:G p.(Ter599TrpextTer13) NC_000022.11:19518906:A:G Analogous +NM_000350.3:c.4131C>A NP_000341.2:p.Ile1377= NC_000001.11:94031117:G:T p.(Ile1377=) NC_000001.11:94031117:G:T p.(Ile1377=) NC_000001.11:94031117:G:T Identity +NM_000813.3:c.627_629del NP_000804.1:p.Gln209_Phe210delinsHis NC_000005.10:161336681:AAC: p.(Gln209_Phe210delinsHis) NC_000005.10:161336681:AAC: p.(Gln209_Phe210delinsHis) NC_000005.10:161336681:AAC: Identity +NM_001329938.2:c.927G>T NP_001316867.1:p.Arg309= NC_000014.9:75963314:C:A p.(Arg309=) NC_000014.9:75963314:C:A p.(Arg309=) NC_000014.9:75963314:C:A Identity +NM_000440.3:c.1651_1652insCATG NP_000431.2:p.Lys551delinsThrTer NC_000005.10:149895259::CATG p.(Lys551ThrfsTer2) NC_000005.10:149895258:T:CATG p.(Lys551ThrfsTer2) NC_000005.10:149895259:TT:CATG Analogous +NM_000198.4:c.707del NP_000189.1:p.Ala235_Leu236insTer NC_000001.11:119422206:TT:T p.(Leu236Ter) NC_000001.11:119422206:TT:T p.(Leu236Ter) NC_000001.11:119422207:T: Analogous +NM_000527.5:c.1317T>C NP_000518.1:p.Asn439= NC_000019.10:11113407:T:C p.(Asn439=) NC_000019.10:11113407:T:C p.(Asn439=) NC_000019.10:11113407:T:C Identity +NM_032888.4:c.1341C>T NP_116277.2:p.Thr447= NC_000009.12:114168895:C:T p.(Thr447=) NC_000009.12:114168895:C:T p.(Thr447=) NC_000009.12:114168895:C:T Identity +NM_000489.6:c.4458T>C NP_000480.3:p.Asp1486= NC_000023.11:77652212:A:G p.(Asp1486=) NC_000023.11:77652212:A:G p.(Asp1486=) NC_000023.11:77652212:A:G Identity +NM_000535.7:c.1698T>C NP_000526.2:p.Pro566= NC_000007.14:5987066:A:G p.(Pro566=) NC_000007.14:5987066:A:G p.(Pro566=) NC_000007.14:5987066:A:G Identity +NM_001030311.3:c.636T>C NP_001025482.1:p.Ala212= NC_000002.12:181566098:A:G p.(Ala212=) NC_000002.12:181566098:A:G p.(Ala212=) NC_000002.12:181566098:A:G Identity +NM_032888.4:c.2319A>G NP_116277.2:p.Glu773= NC_000009.12:114209724:A:G p.(Glu773=) NC_000009.12:114209724:A:G p.(Glu773=) NC_000009.12:114209724:A:G Identity +NM_000092.5:c.2571G>A NP_000083.3:p.Pro857= NC_000002.12:227056089:C:T p.(Pro857=) NC_000002.12:227056089:C:T p.(Pro857=) NC_000002.12:227056089:C:T Identity +NM_000080.4:c.696C>T NP_000071.1:p.Tyr232= NC_000017.11:4901095:G:A p.(Tyr232=) NC_000017.11:4901095:G:A p.(Tyr232=) NC_000017.11:4901095:G:A Identity +NM_001354255.2:c.1608C>T NP_001341184.1:p.Ser536= NC_000004.12:113274636:C:T p.(Ser536=) NC_000004.12:113274636:C:T p.(Ser536=) NC_000004.12:113274636:C:T Identity +NM_001190799.2:c.1215A>T NP_001177728.1:p.Thr405= NC_000004.12:127886680:A:T p.(Thr405=) NC_000004.12:127886680:A:T p.(Thr405=) NC_000004.12:127886680:A:T Identity +NM_001017995.3:c.1317C>T NP_001017995.1:p.Pro439= NC_000005.10:172339787:G:A p.(Pro439=) NC_000005.10:172339787:G:A p.(Pro439=) NC_000005.10:172339787:G:A Identity +NM_001848.3:c.186C>G NP_001839.2:p.Val62= NC_000021.9:45982721:C:G p.(Val62=) NC_000021.9:45982721:C:G p.(Val62=) NC_000021.9:45982721:C:G Identity +NM_173354.5:c.513G>C NP_775490.2:p.Gly171= NC_000021.9:43421353:C:G p.(Gly171=) NC_000021.9:43421353:C:G p.(Gly171=) NC_000021.9:43421353:C:G Identity +NM_000495.5:c.2421T>C NP_000486.1:p.Pro807= NC_000023.11:108614935:T:C p.(Pro807=) NC_000023.11:108614935:T:C p.(Pro807=) NC_000023.11:108614935:T:C Identity +NM_001280557.2:c.330G>A NP_001267486.1:p.Ala110= NC_000008.11:144412657:C:T p.(Ala110=) NC_000008.11:144412657:C:T p.(Ala110=) NC_000008.11:144412657:C:T Identity +NM_001135659.3:c.3675A>G NP_001129131.1:p.Gly1225= NC_000002.12:50091485:T:C p.(Gly1225=) NC_000002.12:50091485:T:C p.(Gly1225=) NC_000002.12:50091485:T:C Identity +NM_001136029.4:c.3450T>C NP_001129501.1:p.Ser1150= NC_000022.11:31870735:T:C p.(Ser1150=) NC_000022.11:31870735:T:C p.(Ser1150=) NC_000022.11:31870735:T:C Identity +NM_001174089.2:c.2454C>G NP_001167560.1:p.Gly818= NC_000020.11:3228362:G:C p.(Gly818=) NC_000020.11:3228362:G:C p.(Gly818=) NC_000020.11:3228362:G:C Identity +NM_032034.4:c.12C>G NP_114423.1:p.Val4= NC_000020.11:3237667:G:C p.(Val4=) NC_000020.11:3237667:G:C p.(Val4=) NC_000020.11:3237667:G:C Identity +NM_000246.4:c.1032A>T NP_000237.2:p.Ser344= NC_000016.10:10906523:A:T p.(Ser344=) NC_000016.10:10906523:A:T p.(Ser344=) NC_000016.10:10906523:A:T Identity +NM_001174089.2:c.2037C>A NP_001167560.1:p.Ala679= NC_000020.11:3228992:G:T p.(Ala679=) NC_000020.11:3228992:G:T p.(Ala679=) NC_000020.11:3228992:G:T Identity +NM_001166110.2:c.141G>A NP_001159582.1:p.Ser47= NC_000004.12:168878031:G:A p.(Ser47=) NC_000004.12:168878031:G:A p.(Ser47=) NC_000004.12:168878031:G:A Identity +NM_000391.4:c.1683C>T NP_000382.3:p.Leu561= NC_000011.10:6614554:G:A p.(Leu561=) NC_000011.10:6614554:G:A p.(Leu561=) NC_000011.10:6614554:G:A Identity +NM_000760.4:c.180G>A NP_000751.1:p.Gln60= NC_000001.11:36475557:C:T p.(Gln60=) NC_000001.11:36475557:C:T p.(Gln60=) NC_000001.11:36475557:C:T Identity +NM_000038.6:c.6603A>G NP_000029.2:p.Gly2201= NC_000005.10:112842196:A:G p.(Gly2201=) NC_000005.10:112842196:A:G p.(Gly2201=) NC_000005.10:112842196:A:G Identity +NM_000813.3:c.909G>A NP_000804.1:p.Lys303= NC_000005.10:161331050:C:T p.(Lys303=) NC_000005.10:161331050:C:T p.(Lys303=) NC_000005.10:161331050:C:T Identity +NM_000531.6:c.694T>C NP_000522.3:p.Leu232= NC_000023.11:38408771:T:C p.(Leu232=) NC_000023.11:38408771:T:C p.(Leu232=) NC_000023.11:38408771:T:C Identity +NM_000202.8:c.807C>T NP_000193.1:p.Asp269= NC_000023.11:149496417:G:A p.(Asp269=) NC_000023.11:149496417:G:A p.(Asp269=) NC_000023.11:149496417:G:A Identity +NM_000393.5:c.4035A>T NP_000384.2:p.Pro1345= NC_000002.12:189036693:T:A p.(Pro1345=) NC_000002.12:189036693:T:A p.(Pro1345=) NC_000002.12:189036693:T:A Identity +NM_001280557.2:c.273C>T NP_001267486.1:p.Ile91= NC_000008.11:144412806:G:A p.(Ile91=) NC_000008.11:144412806:G:A p.(Ile91=) NC_000008.11:144412806:G:A Identity +NM_001386500.1:c.1143G>A NP_001373429.1:p.Arg381= NC_000001.11:11247706:C:T p.(Arg381=) NC_000001.11:11247706:C:T p.(Arg381=) NC_000001.11:11247706:C:T Identity +NM_001256213.2:c.1371G>A NP_001243142.1:p.Leu457= NC_000019.10:41981600:C:T p.(Leu457=) NC_000019.10:41981600:C:T p.(Leu457=) NC_000019.10:41981600:C:T Identity +NM_138694.4:c.228C>T NP_619639.3:p.Pro76= NC_000006.12:52082444:G:A p.(Pro76=) NC_000006.12:52082444:G:A p.(Pro76=) NC_000006.12:52082444:G:A Identity +NM_001200.4:c.48C>G NP_001191.1:p.Val16= NC_000020.11:6770173:C:G p.(Val16=) NC_000020.11:6770173:C:G p.(Val16=) NC_000020.11:6770173:C:G Identity +NM_001318219.1:c.3360A>G NP_001305148.1:p.Lys1120= NC_000020.11:35503624:A:G p.(Lys1120=) NC_000020.11:35503624:A:G p.(Lys1120=) NC_000020.11:35503624:A:G Identity +NM_001195573.1:c.3999C>T NP_001182502.1:p.Cys1333= NC_000014.9:95103396:G:A p.(Cys1333=) NC_000014.9:95103396:G:A p.(Cys1333=) NC_000014.9:95103396:G:A Identity +NM_000075.4:c.708T>C NP_000066.1:p.Asp236= NC_000012.12:57749292:A:G p.(Asp236=) NC_000012.12:57749292:A:G p.(Asp236=) NC_000012.12:57749292:A:G Identity +NM_004104.5:c.3279C>T NP_004095.4:p.His1093= NC_000017.11:82087197:G:A p.(His1093=) NC_000017.11:82087197:G:A p.(His1093=) NC_000017.11:82087197:G:A Identity +NM_000059.4:c.5526T>A NP_000050.3:p.Pro1842= NC_000013.11:32339880:T:A p.(Pro1842=) NC_000013.11:32339880:T:A p.(Pro1842=) NC_000013.11:32339880:T:A Identity +NM_000050.4:c.102T>C NP_000041.2:p.Tyr34= NC_000009.12:130452329:T:C p.(Tyr34=) NC_000009.12:130452329:T:C p.(Tyr34=) NC_000009.12:130452329:T:C Identity +NM_001198842.2:c.282G>A NP_001185771.1:p.Leu94= NC_000012.12:69588238:G:A p.(Leu94=) NC_000012.12:69588238:G:A p.(Leu94=) NC_000012.12:69588238:G:A Identity +NM_000092.5:c.1443C>A NP_000083.3:p.Gly481= NC_000002.12:227089883:G:T p.(Gly481=) NC_000002.12:227089883:G:T p.(Gly481=) NC_000002.12:227089883:G:T Identity +NM_014249.4:c.960T>C NP_055064.1:p.Phe320= NC_000015.10:71813600:T:C p.(Phe320=) NC_000015.10:71813600:T:C p.(Phe320=) NC_000015.10:71813600:T:C Identity +NM_001042494.2:c.2292A>G NP_001035959.1:p.Val764= NC_000015.10:34239127:T:C p.(Val764=) NC_000015.10:34239127:T:C p.(Val764=) NC_000015.10:34239127:T:C Identity +NM_173354.5:c.606C>A NP_775490.2:p.Gly202= NC_000021.9:43421260:G:T p.(Gly202=) NC_000021.9:43421260:G:T p.(Gly202=) NC_000021.9:43421260:G:T Identity +NM_000103.4:c.1245T>C NP_000094.2:p.Leu415= NC_000015.10:51212337:A:G p.(Leu415=) NC_000015.10:51212337:A:G p.(Leu415=) NC_000015.10:51212337:A:G Identity +NM_001377456.1:c.297T>C NP_001364385.1:p.Asn99= NC_000016.10:56514500:A:G p.(Asn99=) NC_000016.10:56514500:A:G p.(Asn99=) NC_000016.10:56514500:A:G Identity +NM_001144964.1:c.1518A>C NP_001138436.1:p.Ile506= NC_000018.10:58366045:A:C p.(Ile506=) NC_000018.10:58366045:A:C p.(Ile506=) NC_000018.10:58366045:A:C Identity +NM_000548.5:c.3117G>C NP_000539.2:p.Thr1039= NC_000016.10:2079181:G:C p.(Thr1039=) NC_000016.10:2079181:G:C p.(Thr1039=) NC_000016.10:2079181:G:C Identity +NM_001007188.4:c.597C>T NP_001007189.1:p.Phe199= NC_000022.11:31784847:C:T p.(Phe199=) NC_000022.11:31784847:C:T p.(Phe199=) NC_000022.11:31784847:C:T Identity +NM_001190720.3:c.543T>C NP_001177649.2:p.Val181= NC_000008.11:42314363:T:C p.(Val181=) NC_000008.11:42314363:T:C p.(Val181=) NC_000008.11:42314363:T:C Identity +NM_001407571.1:c.2349T>C NP_001394500.1:p.Ala783= NC_000017.11:43092968:A:G p.(Ala783=) NC_000017.11:43092968:A:G p.(Ala783=) NC_000017.11:43092968:A:G Identity +NM_032888.4:c.4863T>C NP_116277.2:p.Pro1621= NC_000009.12:114302098:T:C p.(Pro1621=) NC_000009.12:114302098:T:C p.(Pro1621=) NC_000009.12:114302098:T:C Identity +NM_001387438.1:c.903G>A NP_001374367.1:p.Ala301= NC_000019.10:18868812:C:T p.(Ala301=) NC_000019.10:18868812:C:T p.(Ala301=) NC_000019.10:18868812:C:T Identity +NM_001036.6:c.4701G>C NP_001027.3:p.Ala1567= NC_000015.10:33662230:G:C p.(Ala1567=) NC_000015.10:33662230:G:C p.(Ala1567=) NC_000015.10:33662230:G:C Identity +NM_001128844.3:c.1240A>C NP_001122316.1:p.Arg414= NC_000019.10:10989437:A:C p.(Arg414=) NC_000019.10:10989437:A:C p.(Arg414=) NC_000019.10:10989437:A:C Identity +NM_000198.4:c.411C>T NP_000189.1:p.Ile137= NC_000001.11:119421911:C:T p.(Ile137=) NC_000001.11:119421911:C:T p.(Ile137=) NC_000001.11:119421911:C:T Identity +NM_000260.4:c.3264G>A NP_000251.3:p.Gln1088= NC_000011.10:77182578:G:A p.(Gln1088=) NC_000011.10:77182578:G:A p.(Gln1088=) NC_000011.10:77182578:G:A Identity +NM_019098.5:c.1392C>G NP_061971.3:p.Ala464= NC_000008.11:86629006:G:C p.(Ala464=) NC_000008.11:86629006:G:C p.(Ala464=) NC_000008.11:86629006:G:C Identity +NM_001191028.3:c.888C>T NP_001177957.2:p.Cys296= NC_000007.14:129000551:G:A p.(Cys296=) NC_000007.14:129000551:G:A p.(Cys296=) NC_000007.14:129000551:G:A Identity +NM_001320867.2:c.339C>T NP_001307796.1:p.Arg113= NC_000019.10:43526203:G:A p.(Arg113=) NC_000019.10:43526203:G:A p.(Arg113=) NC_000019.10:43526203:G:A Identity +NM_000093.5:c.3939G>A NP_000084.3:p.Glu1313= NC_000009.12:134814828:G:A p.(Glu1313=) NC_000009.12:134814828:G:A p.(Glu1313=) NC_000009.12:134814828:G:A Identity +NM_000237.3:c.372C>G NP_000228.1:p.Ser124= NC_000008.11:19951890:C:G p.(Ser124=) NC_000008.11:19951890:C:G p.(Ser124=) NC_000008.11:19951890:C:G Identity +NM_001042496.2:c.36G>A NP_001035961.1:p.Lys12= NC_000015.10:34336617:C:T p.(Lys12=) NC_000015.10:34336617:C:T p.(Lys12=) NC_000015.10:34336617:C:T Identity +NM_000246.4:c.2091C>T NP_000237.2:p.His697= NC_000016.10:10907582:C:T p.(His697=) NC_000016.10:10907582:C:T p.(His697=) NC_000016.10:10907582:C:T Identity +NM_016107.5:c.2334G>A NP_057191.2:p.Glu778= NC_000005.10:32388482:C:T p.(Glu778=) NC_000005.10:32388482:C:T p.(Glu778=) NC_000005.10:32388482:C:T Identity +NM_001017995.3:c.1398C>G NP_001017995.1:p.Pro466= NC_000005.10:172339706:G:C p.(Pro466=) NC_000005.10:172339706:G:C p.(Pro466=) NC_000005.10:172339706:G:C Identity +NM_000059.4:c.4302A>G NP_000050.3:p.Lys1434= NC_000013.11:32338656:A:G p.(Lys1434=) NC_000013.11:32338656:A:G p.(Lys1434=) NC_000013.11:32338656:A:G Identity +NM_003954.5:c.981C>T NP_003945.2:p.Ala327= NC_000017.11:45286601:G:A p.(Ala327=) NC_000017.11:45286601:G:A p.(Ala327=) NC_000017.11:45286601:G:A Identity +NM_005458.8:c.103C>T NP_005449.5:p.Leu35= NC_000009.12:98708634:G:A p.(Leu35=) NC_000009.12:98708634:G:A p.(Leu35=) NC_000009.12:98708634:G:A Identity +NM_000495.5:c.4356C>T NP_000486.1:p.Pro1452= NC_000023.11:108687539:C:T p.(Pro1452=) NC_000023.11:108687539:C:T p.(Pro1452=) NC_000023.11:108687539:C:T Identity +NM_005914.4:c.1281A>G NP_005905.2:p.Lys427= NC_000008.11:47969903:A:G p.(Lys427=) NC_000008.11:47969903:A:G p.(Lys427=) NC_000008.11:47969903:A:G Identity +NM_001271620.2:c.2415C>T NP_001258549.1:p.Asn805= NC_000016.10:49636556:G:A p.(Asn805=) NC_000016.10:49636556:G:A p.(Asn805=) NC_000016.10:49636556:G:A Identity +NM_001164617.2:c.522G>A NP_001158089.1:p.Leu174= NC_000023.11:133753991:C:T p.(Leu174=) NC_000023.11:133753991:C:T p.(Leu174=) NC_000023.11:133753991:C:T Identity +NM_000527.5:c.177C>T NP_000518.1:p.Ser59= NC_000019.10:11100331:C:T p.(Ser59=) NC_000019.10:11100331:C:T p.(Ser59=) NC_000019.10:11100331:C:T Identity +NM_001293306.2:c.5341C>A NP_001280235.2:p.Arg1781= NC_000003.12:38697875:G:T p.(Arg1781=) NC_000003.12:38697875:G:T p.(Arg1781=) NC_000003.12:38697875:G:T Identity +NM_001352500.2:c.90A>C NP_001339429.1:p.Ser30= NC_000013.11:49567189:T:G p.(Ser30=) NC_000013.11:49567189:T:G p.(Ser30=) NC_000013.11:49567189:T:G Identity +NM_000349.3:c.708G>A NP_000340.2:p.Lys236= NC_000008.11:38145257:C:T p.(Lys236=) NC_000008.11:38145257:C:T p.(Lys236=) NC_000008.11:38145257:C:T Identity +NM_002437.5:c.393T>C NP_002428.1:p.Leu131= NC_000002.12:27312228:A:G p.(Leu131=) NC_000002.12:27312228:A:G p.(Leu131=) NC_000002.12:27312228:A:G Identity +NM_172089.4:c.186A>G NP_742086.1:p.Ala62= NC_000017.11:7549499:A:G p.(Ala62=) NC_000017.11:7549499:A:G p.(Ala62=) NC_000017.11:7549499:A:G Identity +NM_001243564.2:c.600G>A NP_001230493.1:p.Glu200= NC_000001.11:26460080:G:A p.(Glu200=) NC_000001.11:26460080:G:A p.(Glu200=) NC_000001.11:26460080:G:A Identity +NM_001256849.1:c.1713C>G NP_001243778.1:p.Pro571= NC_000019.10:50407352:C:G p.(Pro571=) NC_000019.10:50407352:C:G p.(Pro571=) NC_000019.10:50407352:C:G Identity +NM_000109.4:c.1605C>A NP_000100.3:p.Ile535= NC_000023.11:32573819:G:T p.(Ile535=) NC_000023.11:32573819:G:T p.(Ile535=) NC_000023.11:32573819:G:T Identity +NM_001317184.2:c.1269C>G NP_001304113.1:p.Pro423= NC_000016.10:68815645:C:G p.(Pro423=) NC_000016.10:68815645:C:G p.(Pro423=) NC_000016.10:68815645:C:G Identity +NM_000323.2:c.1149C>A NP_000314.1:p.Gly383= NC_000010.11:43109115:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001290048.2:c.1125T>C NP_001276977.1:p.Leu375= NC_000011.10:63631399:A:G p.(Leu375=) NC_000011.10:63631399:A:G p.(Leu375=) NC_000011.10:63631399:A:G Identity +NM_000350.3:c.4731T>G NP_000341.2:p.Val1577= NC_000001.11:94021887:A:C p.(Val1577=) NC_000001.11:94021887:A:C p.(Val1577=) NC_000001.11:94021887:A:C Identity +NM_014049.5:c.69T>C NP_054768.2:p.Ser23= NC_000003.12:128879759:T:C p.(Ser23=) NC_000003.12:128879759:T:C p.(Ser23=) NC_000003.12:128879759:T:C Identity +NM_145046.5:c.1152T>G NP_659483.2:p.Leu384= NC_000019.10:16479133:A:C p.(Leu384=) NC_000019.10:16479133:A:C p.(Leu384=) NC_000019.10:16479133:A:C Identity +NM_000246.4:c.2796A>C NP_000237.2:p.Gly932= NC_000016.10:10909166:A:C p.(Gly932=) NC_000016.10:10909166:A:C p.(Gly932=) NC_000016.10:10909166:A:C Identity +NM_001130455.2:c.6063C>T NP_001123927.1:p.Arg2021= NC_000002.12:71682532:C:T p.(Arg2021=) NC_000002.12:71682532:C:T p.(Arg2021=) NC_000002.12:71682532:C:T Identity +NM_000109.4:c.1434A>G NP_000100.3:p.Leu478= NC_000023.11:32614326:T:C p.(Leu478=) NC_000023.11:32614326:T:C p.(Leu478=) NC_000023.11:32614326:T:C Identity +NM_001348353.1:c.568C>T NP_001335282.1:p.Leu190= NC_000008.11:30607131:G:A p.(Leu190=) NC_000008.11:30607131:G:A p.(Leu190=) NC_000008.11:30607131:G:A Identity +NM_000128.4:c.1224C>T NP_000119.1:p.Thr408= NC_000004.12:186284179:C:T p.(Thr408=) NC_000004.12:186284179:C:T p.(Thr408=) NC_000004.12:186284179:C:T Identity +NM_000075.4:c.840A>G NP_000066.1:p.Pro280= NC_000012.12:57748596:T:C p.(Pro280=) NC_000012.12:57748596:T:C p.(Pro280=) NC_000012.12:57748596:T:C Identity +NM_138694.4:c.6114T>A NP_619639.3:p.Ser2038= NC_000006.12:51934116:A:T p.(Ser2038=) NC_000006.12:51934116:A:T p.(Ser2038=) NC_000006.12:51934116:A:T Identity +NM_178170.3:c.444C>T NP_835464.1:p.Phe148= NC_000017.11:28734961:C:T p.(Phe148=) NC_000017.11:28734961:C:T p.(Phe148=) NC_000017.11:28734961:C:T Identity +NM_001201459.2:c.1245C>T NP_001188388.1:p.Cys415= NC_000002.12:27377739:G:A p.(Cys415=) NC_000002.12:27377739:G:A p.(Cys415=) NC_000002.12:27377739:G:A Identity +NM_000390.4:c.1722C>G NP_000381.1:p.Val574= NC_000023.11:85873099:G:C p.(Val574=) NC_000023.11:85873099:G:C p.(Val574=) NC_000023.11:85873099:G:C Identity +NM_017767.3:c.255C>T NP_060237.3:p.Thr85= NC_000008.11:144415953:G:A p.(Thr85=) NC_000008.11:144415953:G:A p.(Thr85=) NC_000008.11:144415953:G:A Identity +NM_003907.3:c.636T>A NP_003898.2:p.Val212= NC_000003.12:184138026:T:A p.(Val212=) NC_000003.12:184138026:T:A p.(Val212=) NC_000003.12:184138026:T:A Identity +NM_004268.5:c.1365T>C NP_004259.3:p.Ile455= NC_000011.10:93801870:T:C p.(Ile455=) NC_000011.10:93801870:T:C p.(Ile455=) NC_000011.10:93801870:T:C Identity +NM_003680.4:c.1159C>T NP_003671.1:p.Leu387= NC_000001.11:32780259:G:A p.(Leu387=) NC_000001.11:32780259:G:A p.(Leu387=) NC_000001.11:32780259:G:A Identity +NM_000238.4:c.2934G>A NP_000229.1:p.Glu978= NC_000007.14:150947636:C:T p.(Glu978=) NC_000007.14:150947636:C:T p.(Glu978=) NC_000007.14:150947636:C:T Identity +NM_000092.5:c.1884G>T NP_000083.3:p.Gly628= NC_000002.12:227077996:C:A p.(Gly628=) NC_000002.12:227077996:C:A p.(Gly628=) NC_000002.12:227077996:C:A Identity +NM_000260.4:c.3042G>C NP_000251.3:p.Thr1014= NC_000011.10:77182087:G:C p.(Thr1014=) NC_000011.10:77182087:G:C p.(Thr1014=) NC_000011.10:77182087:G:C Identity +NM_000540.3:c.7660C>T NP_000531.2:p.Leu2554= NC_000019.10:38502551:C:T p.(Leu2554=) NC_000019.10:38502551:C:T p.(Leu2554=) NC_000019.10:38502551:C:T Identity +NM_001130455.2:c.273G>A NP_001123927.1:p.Glu91= NC_000002.12:71503246:G:A p.(Glu91=) NC_000002.12:71503246:G:A p.(Glu91=) NC_000002.12:71503246:G:A Identity +NM_000535.7:c.330T>C NP_000526.2:p.Ala110= NC_000007.14:6003712:A:G p.(Ala110=) NC_000007.14:6003712:A:G p.(Ala110=) NC_000007.14:6003712:A:G Identity +NM_001374425.1:c.552C>T NP_001361354.1:p.Ile184= NC_000001.11:2408499:G:A p.(Ile184=) NC_000001.11:2408499:G:A p.(Ile184=) NC_000001.11:2408499:G:A Identity +NM_001083116.3:c.339C>T NP_001076585.1:p.Ser113= NC_000010.11:70600563:G:A p.(Ser113=) NC_000010.11:70600563:G:A p.(Ser113=) NC_000010.11:70600563:G:A Identity +NM_000488.4:c.51T>C NP_000479.1:p.Tyr17= NC_000001.11:173914909:A:G p.(Tyr17=) NC_000001.11:173914909:A:G p.(Tyr17=) NC_000001.11:173914909:A:G Identity +NM_000260.4:c.3948T>C NP_000251.3:p.Ser1316= NC_000011.10:77192073:T:C p.(Ser1316=) NC_000011.10:77192073:T:C p.(Ser1316=) NC_000011.10:77192073:T:C Identity +NM_004104.5:c.318C>T NP_004095.4:p.Gly106= NC_000017.11:82093733:G:A p.(Gly106=) NC_000017.11:82093733:G:A p.(Gly106=) NC_000017.11:82093733:G:A Identity +NM_015180.6:c.654C>T NP_055995.4:p.Ala218= NC_000014.9:63954781:C:T p.(Ala218=) NC_000014.9:63954781:C:T p.(Ala218=) NC_000014.9:63954781:C:T Identity +NM_021961.6:c.399C>T NP_068780.2:p.Ala133= NC_000011.10:12879775:C:T p.(Ala133=) NC_000011.10:12879775:C:T p.(Ala133=) NC_000011.10:12879775:C:T Identity +NM_001317195.3:c.549C>T NP_001304124.1:p.Leu183= NC_000016.10:68678763:C:T p.(Leu183=) NC_000016.10:68678763:C:T p.(Leu183=) NC_000016.10:68678763:C:T Identity +NM_000172.4:c.174G>C NP_000163.2:p.Ser58= NC_000003.12:50193288:G:C p.(Ser58=) NC_000003.12:50193288:G:C p.(Ser58=) NC_000003.12:50193288:G:C Identity +NM_001039476.3:c.929_930= NP_001034565.1:p.Ser310= NC_000016.10:88774:GC:GC p.(Ser310=) NC_000016.10:88774:GC: p.(Ser310=) NC_000016.10:88774:GC:GC Identity +NM_000038.6:c.219A>G NP_000029.2:p.Lys73= NC_000005.10:112766408:A:G p.(Lys73=) NC_000005.10:112766408:A:G p.(Lys73=) NC_000005.10:112766408:A:G Identity +NM_001285829.2:c.348G>A NP_001272758.1:p.Pro116= NC_000019.10:33301709:C:T p.(Pro116=) NC_000019.10:33301709:C:T p.(Pro116=) NC_000019.10:33301709:C:T Identity +NM_153252.5:c.369G>A NP_694984.5:p.Ala123= NC_000023.11:80791914:C:T p.(Ala123=) NC_000023.11:80791914:C:T p.(Ala123=) NC_000023.11:80791914:C:T Identity +NM_001279353.2:c.573G>A NP_001266282.1:p.Lys191= NC_000001.11:150081948:G:A p.(Lys191=) NC_000001.11:150081948:G:A p.(Lys191=) NC_000001.11:150081948:G:A Identity +NM_001014797.3:c.117CTC[11] NP_001014797.1:p.Ser57_Ser60dup NC_000010.11:77637505:GAGGAGGAGGAGGAGGAGGAGGA:GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA p.(Ser57_Ser60dup) NC_000010.11:77637525:G:GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG ERR:Parse ERR:Parse Identity +NM_000077.5:c.95_112dup NP_000068.1:p.Leu32_Leu37dup NC_000009.12:21974715:GCAGCGCCCCCGCCTCCAGCAGCGCCC:GCAGCGCCCCCGCCTCCAGCAGCGCCCCCGCCTCCAGCAGCGCCC p.(Leu32_Leu37dup) NC_000009.12:21974715:GCAGCGCCCCCGCCTCCAGCAGCGCCC:GCAGCGCCCCCGCCTCCAGCAGCGCCCCCGCCTCCAGCAGCGCCC p.(Leu32_Leu37dup) ERR:SPDI Identity +NM_001621.5:c.1464_1469del NP_001612.1:p.Ser489_Met490del NC_000007.14:17339288:ATCTAT: p.(Ser489_Met490del) NC_000007.14:17339288:ATCTAT: p.(Ser489_Met490del) NC_000007.14:17339288:ATCTAT: Identity +NM_001261826.3:c.2094C>T NP_001248755.1:p.Gly698= NC_000019.10:2115592:G:A p.(Gly698=) NC_000019.10:2115592:G:A p.(Gly698=) NC_000019.10:2115592:G:A Identity +NM_001015051.4:c.239_240insAGCGGCGGCTGCGGCGGC NP_001015051.3:p.Ala84_Ala89dup NC_000006.12:45422756:GCGGCGGCTGCGGCGGC:GCGGCGGCTGCGGCGGCAGCGGCGGCTGCGGCGGC p.(Ala84_Ala89dup) NC_000006.12:45422772:C:AGCGGCGGCTGCGGCGGC p.(Ala84_Ala89dup) NC_000006.12:45422773:CG:AGCGGCGGCTGCGGCGGC Identity +NM_000327.4:c.555_578dup NP_000318.2:p.Arg186_Arg193dup NC_000011.10:62613834:GCCGTTACCTGGATCCCGGTGACCG:GCCGTTACCTGGATCCCGGTGACCGCCGTTACCTGGATCCCGGTGACCG p.(Arg186_Arg193dup) NC_000011.10:62613834:GCCGTTACCTGGATCCCGGTGACCG:GCCGTTACCTGGATCCCGGTGACCGCCGTTACCTGGATCCCGGTGACCG p.(Arg186_Arg193dup) ERR:SPDI Identity +NM_000109.4:c.1179A>G NP_000100.3:p.Gln393= NC_000023.11:32644259:T:C p.(Gln393=) NC_000023.11:32644259:T:C p.(Gln393=) NC_000023.11:32644259:T:C Identity +NM_000744.7:c.42GCT[5] NP_000735.1:p.Leu19dup NC_000020.11:63361112:AGCAGCAGCAGC:AGCAGCAGCAGCAGC p.(Leu19dup) NC_000020.11:63361123:C:AGCAGCAGCAGCAGC ERR:Parse ERR:Parse Identity +NM_001291285.3:c.13622_13623insAAA NP_001278214.1:p.Lys4543dup NC_000004.12:125490440:A:AAAA p.(Lys4543dup) NC_000004.12:125490440:A:AAA p.(Lys4543dup) NC_000004.12:125490441:AG:AAA Identity +NM_001271667.2:c.53AGCAGCTCC[1] NP_001258596.1:p.Gln21_Leu23del NC_000006.12:15627384:GGAGCTGCTGGAGCTGCT:GGAGCTGCT p.(Gln21_Leu23del) NC_000006.12:15627401:T:GGAGCTGCT ERR:Parse ERR:Parse Identity +NM_014053.4:c.645_647dup NP_054772.1:p.Val215_Phe216insLeu NC_000001.11:212859095:TGTT:TGTTGTT p.(Val215_Phe216insLeu) NC_000001.11:212859095:TGTT:TGTTGTT p.(Val215_Phe216insLeu) ERR:SPDI Identity +NM_001300897.2:c.20_23del NP_001287826.1:p.Asp6_Phe7insTer NC_000004.12:129093080:AGAAAG:AG p.(Phe7Ter) NC_000004.12:129093080:AGAAAG:AG p.(Phe7Ter) NC_000004.12:129093080:AGAA: Analogous +NM_000059.4:c.8776_8801dup NP_000050.3:p.Gln2934delinsHisTer NC_000013.11:32379337:TTAAGAGCCTTGAATAATCACAGGCA:TTAAGAGCCTTGAATAATCACAGGCATTAAGAGCCTTGAATAATCACAGGCA p.(Gln2934HisfsTer2) NC_000013.11:32379337:TTAAGAGCCTTGAATAATCACAGGCA:TTAAGAGCCTTGAATAATCACAGGCATTAAGAGCCTTGAATAATCACAGGCA p.(Gln2934HisfsTer2) ERR:SPDI Analogous +NM_001308632.1:c.1851C>A NP_001295561.1:p.Pro617= NC_000019.10:50408781:C:A p.(Pro617=) NC_000019.10:50408781:C:A p.(Pro617=) NC_000019.10:50408781:C:A Identity +NM_001031710.3:c.232_253dup NP_001026880.2:p.Val85delinsAlaTer NC_000007.14:23124694:GCTTGAATCAAAGTCCTTTGAAG:GCTTGAATCAAAGTCCTTTGAAGCTTGAATCAAAGTCCTTTGAAG p.(Val85AlafsTer2) NC_000007.14:23124694:GCTTGAATCAAAGTCCTTTGAAG:GCTTGAATCAAAGTCCTTTGAAGCTTGAATCAAAGTCCTTTGAAG p.(Val85AlafsTer2) ERR:SPDI Analogous +NM_001009994.3:c.387A>T NP_001009994.1:p.Ter129Tyr NC_000006.12:83857388:A:T p.(Ter129TyrextTer3) NC_000006.12:83857388:A:T p.(Ter129TyrextTer3) NC_000006.12:83857388:A:T Analogous +NM_001100913.3:c.1050G>C NP_001094383.2:p.Pro350= NC_000014.9:105379828:G:C p.(Pro350=) NC_000014.9:105379828:G:C p.(Pro350=) NC_000014.9:105379828:G:C Identity +NM_001346897.2:c.2283_2288del NP_001333826.1:p.Lys761_Asp762del NC_000007.14:55181422:ACAAAGACAA:ACAA p.(Lys761_Asp762del) NC_000007.14:55181422:ACAAAGACAA:ACAA p.(Lys761_Asp762del) NC_000007.14:55181426:AGACAA: Identity +NM_021999.5:c.368AAG[2] NP_068839.1:p.Glu125_Glu126del NC_000013.11:48256296:GAAGAAGAAGAAG:GAAGAAG p.(Glu125_Glu126del) NC_000013.11:48256297:A:AAGAAG ERR:Parse ERR:Parse Identity +NM_005733.3:c.1518G>A NP_005724.1:p.Gln506= NC_000005.10:138184403:G:A p.(Gln506=) NC_000005.10:138184403:G:A p.(Gln506=) NC_000005.10:138184403:G:A Identity +NM_001142864.4:c.6494AGA[6] NP_001136336.2:p.Lys2169dup NC_000016.10:88717174:TCTTCTTCTTCTTCT:TCTTCTTCTTCTTCTTCT p.(Lys2169dup) NC_000016.10:88717188:T:TCTTCTTCTTCTTCTTCT ERR:Parse ERR:Parse Identity +NM_001178129.2:c.2013A>G NP_001171600.1:p.Lys671= NC_000007.14:83367720:T:C p.(Lys671=) NC_000007.14:83367720:T:C p.(Lys671=) NC_000007.14:83367720:T:C Identity +NM_005222.4:c.156GCCGCA[1] NP_005213.3:p.Gln54_Pro55del NC_000007.14:97006132:GCCGCAGCCGCA:GCCGCA p.(Gln54_Pro55del) NC_000007.14:97006132:G:GCCGCA ERR:Parse ERR:Parse Identity +NM_004055.5:c.570G>A NP_004046.2:p.Thr190= NC_000011.10:77114304:G:A p.(Thr190=) NC_000011.10:77114304:G:A p.(Thr190=) NC_000011.10:77114304:G:A Identity +NM_001407571.1:c.5379A>G NP_001394500.1:p.Ter1793Trp NC_000017.11:43045677:T:C p.(Ter1793TrpextTer39) NC_000017.11:43045677:T:C p.(Ter1793TrpextTer39) NC_000017.11:43045677:T:C Analogous +NM_001172644.2:c.84C>T NP_001166115.1:p.Gly28= NC_000016.10:66549977:G:A p.(Gly28=) NC_000016.10:66549977:G:A p.(Gly28=) NC_000016.10:66549977:G:A Identity +NM_000038.6:c.7113A>G NP_000029.2:p.Arg2371= NC_000005.10:112842706:A:G p.(Arg2371=) NC_000005.10:112842706:A:G p.(Arg2371=) NC_000005.10:112842706:A:G Identity +NM_001271440.2:c.340_351dup NP_001258369.1:p.Thr114_Arg117dup NC_000021.9:44333054:GCGCGGCAGGGTGCGC:GCGCGGCAGGGTGCGCGGCAGGGTGCGC p.(Thr114_Arg117dup) NC_000021.9:44333054:GCGCGGCAGGGTGCGC:GCGCGGCAGGGTGCGCGGCAGGGTGCGC p.(Thr114_Arg117dup) ERR:SPDI Identity +NM_017780.4:c.7390_7419del NP_060250.2:p.Lys2464_Pro2473del NC_000008.11:60856667:CAAAGTTTATCTTGCCTAATGTCTCAACACCA:CA p.(Lys2464_Pro2473del) NC_000008.11:60856667:CAAAGTTTATCTTGCCTAATGTCTCAACACCA:CA p.(Lys2464_Pro2473del) NC_000008.11:60856669:AAGTTTATCTTGCCTAATGTCTCAACACCA: Identity +NM_003823.4:c.42G>A NP_003814.1:p.Leu14= NC_000020.11:63696808:G:A p.(Leu14=) NC_000020.11:63696808:G:A p.(Leu14=) NC_000020.11:63696808:G:A Identity +NM_000245.4:c.774T>C NP_000236.2:p.Phe258= NC_000007.14:116699857:T:C p.(Phe258=) NC_000007.14:116699857:T:C p.(Phe258=) NC_000007.14:116699857:T:C Identity +NM_000498.3:c.1002C>G NP_000489.3:p.Pro334= NC_000008.11:142913403:G:C p.(Pro334=) NC_000008.11:142913403:G:C p.(Pro334=) NC_000008.11:142913403:G:C Identity +NM_000391.4:c.1023C>T NP_000382.3:p.Asn341= NC_000011.10:6616366:G:A p.(Asn341=) NC_000011.10:6616366:G:A p.(Asn341=) NC_000011.10:6616366:G:A Identity +NM_138694.4:c.10872T>C NP_619639.3:p.Thr3624= NC_000006.12:51659253:A:G p.(Thr3624=) NC_000006.12:51659253:A:G p.(Thr3624=) NC_000006.12:51659253:A:G Identity +NM_001033604.2:c.315C>G NP_001028776.1:p.Val105= NC_000007.14:33155688:C:G p.(Val105=) NC_000007.14:33155688:C:G p.(Val105=) NC_000007.14:33155688:C:G Identity +NM_001005609.2:c.684C>T NP_001005609.1:p.Pro228= NC_000023.11:70028013:C:T p.(Pro228=) NC_000023.11:70028013:C:T p.(Pro228=) NC_000023.11:70028013:C:T Identity +NM_001160708.2:c.1023G>A NP_001154180.1:p.Gln341= NC_000012.12:106427291:G:A p.(Gln341=) NC_000012.12:106427291:G:A p.(Gln341=) NC_000012.12:106427291:G:A Identity +NM_000109.4:c.6259C>A NP_000100.3:p.Arg2087= NC_000023.11:32287535:G:T p.(Arg2087=) NC_000023.11:32287535:G:T p.(Arg2087=) NC_000023.11:32287535:G:T Identity +NM_019098.5:c.1698T>C NP_061971.3:p.His566= NC_000008.11:86604175:A:G p.(His566=) NC_000008.11:86604175:A:G p.(His566=) NC_000008.11:86604175:A:G Identity +NM_001243564.2:c.357G>C NP_001230493.1:p.Arg119= NC_000001.11:26446348:G:C p.(Arg119=) NC_000001.11:26446348:G:C p.(Arg119=) NC_000001.11:26446348:G:C Identity +NM_001291902.2:c.1680G>C NP_001278831.1:p.Leu560= NC_000011.10:68425287:G:C p.(Leu560=) NC_000011.10:68425287:G:C p.(Leu560=) NC_000011.10:68425287:G:C Identity +NM_001407951.1:c.4275A>G NP_001394880.1:p.Gln1425= NC_000017.11:43074394:T:C p.(Gln1425=) NC_000017.11:43074394:T:C p.(Gln1425=) NC_000017.11:43074394:T:C Identity +NM_001168407.2:c.1590A>G NP_001161879.1:p.Arg530= NC_000006.12:72266013:A:G p.(Arg530=) NC_000006.12:72266013:A:G p.(Arg530=) NC_000006.12:72266013:A:G Identity +NM_006231.4:c.1873C>T NP_006222.2:p.Leu625= NC_000012.12:132668860:G:A p.(Leu625=) NC_000012.12:132668860:G:A p.(Leu625=) NC_000012.12:132668860:G:A Identity +NM_001290265.2:c.496C>T NP_001277194.1:p.Leu166= NC_000019.10:18879350:G:A p.(Leu166=) NC_000019.10:18879350:G:A p.(Leu166=) NC_000019.10:18879350:G:A Identity +NM_000246.4:c.888C>T NP_000237.2:p.Asp296= NC_000016.10:10903845:C:T p.(Asp296=) NC_000016.10:10903845:C:T p.(Asp296=) NC_000016.10:10903845:C:T Identity +NM_000183.3:c.126G>A NP_000174.1:p.Thr42= NC_000002.12:26263395:G:A p.(Thr42=) NC_000002.12:26263395:G:A p.(Thr42=) NC_000002.12:26263395:G:A Identity +NM_002709.3:c.942T>C NP_002700.1:p.Pro314= NC_000002.12:28799260:T:C p.(Pro314=) NC_000002.12:28799260:T:C p.(Pro314=) NC_000002.12:28799260:T:C Identity +NM_001374425.1:c.825T>G NP_001361354.1:p.Ser275= NC_000001.11:2406727:A:C p.(Ser275=) NC_000001.11:2406727:A:C p.(Ser275=) NC_000001.11:2406727:A:C Identity +NM_001323956.2:c.483G>T NP_001310885.1:p.Ser161= NC_000020.11:422201:G:T p.(Ser161=) NC_000020.11:422201:G:T p.(Ser161=) NC_000020.11:422201:G:T Identity +NM_001256789.3:c.5022C>T NP_001243718.1:p.Asp1674= NC_000023.11:49208615:G:A p.(Asp1674=) NC_000023.11:49208615:G:A p.(Asp1674=) NC_000023.11:49208615:G:A Identity +NM_001308176.2:c.597A>C NP_001295105.1:p.Ile199= NC_000018.10:28009728:T:G p.(Ile199=) NC_000018.10:28009728:T:G p.(Ile199=) NC_000018.10:28009728:T:G Identity +NM_000760.4:c.1095C>T NP_000751.1:p.Ser365= NC_000001.11:36471622:G:A p.(Ser365=) NC_000001.11:36471622:G:A p.(Ser365=) NC_000001.11:36471622:G:A Identity +NM_005502.4:c.2811G>C NP_005493.2:p.Ala937= NC_000009.12:104822512:C:G p.(Ala937=) NC_000009.12:104822512:C:G p.(Ala937=) NC_000009.12:104822512:C:G Identity +NM_001077397.1:c.1338C>T NP_001070865.1:p.Ser446= NC_000001.11:234607514:G:A p.(Ser446=) NC_000001.11:234607514:G:A p.(Ser446=) NC_000001.11:234607514:G:A Identity +NM_000370.3:c.78G>C NP_000361.1:p.Pro26= NC_000008.11:63085943:C:G p.(Pro26=) NC_000008.11:63085943:C:G p.(Pro26=) NC_000008.11:63085943:C:G Identity +NM_000206.3:c.381A>C NP_000197.1:p.Thr127= NC_000023.11:71110576:T:G p.(Thr127=) NC_000023.11:71110576:T:G p.(Thr127=) NC_000023.11:71110576:T:G Identity +NM_001195622.2:c.1299C>G NP_001182551.1:p.Ser433= NC_000009.12:32543030:G:C p.(Ser433=) NC_000009.12:32543030:G:C p.(Ser433=) NC_000009.12:32543030:G:C Identity +NM_003906.5:c.2811T>C NP_003897.2:p.Ser937= NC_000021.9:46266144:A:G p.(Ser937=) NC_000021.9:46266144:A:G p.(Ser937=) NC_000021.9:46266144:A:G Identity +NM_001271427.2:c.2115G>A NP_001258356.1:p.Arg705= NC_000001.11:19227396:C:T p.(Arg705=) NC_000001.11:19227396:C:T p.(Arg705=) NC_000001.11:19227396:C:T Identity +NM_000246.4:c.1542G>C NP_000237.2:p.Thr514= NC_000016.10:10907033:G:C p.(Thr514=) NC_000016.10:10907033:G:C p.(Thr514=) NC_000016.10:10907033:G:C Identity +NM_001145853.1:c.2499G>T NP_001139325.1:p.Leu833= NC_000004.12:6302293:G:T p.(Leu833=) NC_000004.12:6302293:G:T p.(Leu833=) NC_000004.12:6302293:G:T Identity +NM_032888.4:c.5295C>A NP_116277.2:p.Ile1765= NC_000009.12:114309336:C:A p.(Ile1765=) NC_000009.12:114309336:C:A p.(Ile1765=) NC_000009.12:114309336:C:A Identity +NM_020699.4:c.1305G>A NP_065750.1:p.Lys435= NC_000001.11:153813363:C:T p.(Lys435=) NC_000001.11:153813363:C:T p.(Lys435=) NC_000001.11:153813363:C:T Identity +NM_004104.5:c.2541C>G NP_004095.4:p.Ala847= NC_000017.11:82088441:G:C p.(Ala847=) NC_000017.11:82088441:G:C p.(Ala847=) NC_000017.11:82088441:G:C Identity +NM_001317184.2:c.264T>C NP_001304113.1:p.Pro88= NC_000016.10:68801769:T:C p.(Pro88=) NC_000016.10:68801769:T:C p.(Pro88=) NC_000016.10:68801769:T:C Identity +NM_001346279.2:c.1641T>C NP_001333208.1:p.Phe547= NC_000011.10:10766444:T:C p.(Phe547=) NC_000011.10:10766444:T:C p.(Phe547=) NC_000011.10:10766444:T:C Identity +NM_000109.4:c.9957G>A NP_000100.3:p.Arg3319= NC_000023.11:31180474:C:T p.(Arg3319=) NC_000023.11:31180474:C:T p.(Arg3319=) NC_000023.11:31180474:C:T Identity +NM_000076.2:c.657G>T NP_000067.1:p.Ala219= NC_000011.10:2884832:C:A p.(Ala219=) NC_000011.10:2884832:C:A p.(Ala219=) NC_000011.10:2884832:C:A Identity +NM_001130455.2:c.1995C>T NP_001123927.1:p.Tyr665= NC_000002.12:71553867:C:T p.(Tyr665=) NC_000002.12:71553867:C:T p.(Tyr665=) NC_000002.12:71553867:C:T Identity +NM_000109.4:c.3006G>C NP_000100.3:p.Ala1002= NC_000023.11:32468629:C:G p.(Ala1002=) NC_000023.11:32468629:C:G p.(Ala1002=) NC_000023.11:32468629:C:G Identity +NM_001348381.2:c.48C>T NP_001335310.1:p.Asn16= NC_000008.11:81447338:G:A p.(Asn16=) NC_000008.11:81447338:G:A p.(Asn16=) NC_000008.11:81447338:G:A Identity +NM_030753.5:c.816G>A NP_110380.1:p.Arg272= NC_000017.11:46768571:C:T p.(Arg272=) NC_000017.11:46768571:C:T p.(Arg272=) NC_000017.11:46768571:C:T Identity +NM_001131019.3:c.546C>G NP_001124491.1:p.Ala182= NC_000017.11:44913799:G:C p.(Ala182=) NC_000017.11:44913799:G:C p.(Ala182=) NC_000017.11:44913799:G:C Identity +NM_001271888.2:c.336G>A NP_001258817.1:p.Glu112= NC_000015.10:78105815:C:T p.(Glu112=) NC_000015.10:78105815:C:T p.(Glu112=) NC_000015.10:78105815:C:T Identity +NM_000301.5:c.984C>T NP_000292.1:p.Asp328= NC_000006.12:160718725:C:T p.(Asp328=) NC_000006.12:160718725:C:T p.(Asp328=) NC_000006.12:160718725:C:T Identity +NM_004218.4:c.621G>A NP_004209.2:p.Gln207= NC_000019.10:8403521:G:A p.(Gln207=) NC_000019.10:8403521:G:A p.(Gln207=) NC_000019.10:8403521:G:A Identity +NM_001111125.3:c.2727T>C NP_001104595.1:p.Asp909= NC_000023.11:53246990:A:G p.(Asp909=) NC_000023.11:53246990:A:G p.(Asp909=) NC_000023.11:53246990:A:G Identity +NM_000192.3:c.276G>C NP_000183.2:p.Thr92= NC_000012.12:114399598:C:G p.(Thr92=) NC_000012.12:114399598:C:G p.(Thr92=) NC_000012.12:114399598:C:G Identity +NM_001376.5:c.4989C>T NP_001367.2:p.Ser1663= NC_000014.9:102004622:C:T p.(Ser1663=) NC_000014.9:102004622:C:T p.(Ser1663=) NC_000014.9:102004622:C:T Identity +NM_001352500.2:c.333G>C NP_001339429.1:p.Thr111= NC_000013.11:49560028:C:G p.(Thr111=) NC_000013.11:49560028:C:G p.(Thr111=) NC_000013.11:49560028:C:G Identity +NM_001167614.2:c.804C>T NP_001161086.1:p.Asp268= NC_000012.12:65170399:C:T p.(Asp268=) NC_000012.12:65170399:C:T p.(Asp268=) NC_000012.12:65170399:C:T Identity +NM_020778.5:c.345G>A NP_065829.4:p.Thr115= NC_000015.10:84839019:G:A p.(Thr115=) NC_000015.10:84839019:G:A p.(Thr115=) NC_000015.10:84839019:G:A Identity +NM_003036.4:c.72C>T NP_003027.1:p.Phe24= NC_000001.11:2228837:C:T p.(Phe24=) NC_000001.11:2228837:C:T p.(Phe24=) NC_000001.11:2228837:C:T Identity +NM_000191.3:c.6A>T NP_000182.2:p.Ala2= NC_000001.11:23825409:T:A p.(Ala2=) NC_000001.11:23825409:T:A p.(Ala2=) NC_000001.11:23825409:T:A Identity +NM_004423.4:c.1254C>T NP_004414.3:p.Ala418= NC_000003.12:184167634:C:T p.(Ala418=) NC_000003.12:184167634:C:T p.(Ala418=) NC_000003.12:184167634:C:T Identity +NM_001195573.1:c.2487T>C NP_001182502.1:p.Ile829= NC_000014.9:95108042:A:G p.(Ile829=) NC_000014.9:95108042:A:G p.(Ile829=) NC_000014.9:95108042:A:G Identity +NM_000719.7:c.603A>C NP_000710.5:p.Ile201= NC_000012.12:2449100:A:C p.(Ile201=) NC_000012.12:2449100:A:C p.(Ile201=) NC_000012.12:2449100:A:C Identity +NM_001203263.2:c.1005G>C NP_001190192.2:p.Gly335= NC_000003.12:9928431:G:C p.(Gly335=) NC_000003.12:9928431:G:C p.(Gly335=) NC_000003.12:9928431:G:C Identity +NM_001198842.2:c.453A>G NP_001185771.1:p.Ala151= NC_000012.12:69589631:A:G p.(Ala151=) NC_000012.12:69589631:A:G p.(Ala151=) NC_000012.12:69589631:A:G Identity +NM_006231.4:c.2280C>T NP_006222.2:p.Ala760= NC_000012.12:132667541:G:A p.(Ala760=) NC_000012.12:132667541:G:A p.(Ala760=) NC_000012.12:132667541:G:A Identity +NM_001128844.3:c.2874G>A NP_001122316.1:p.Glu958= NC_000019.10:11023531:G:A p.(Glu958=) NC_000019.10:11023531:G:A p.(Glu958=) NC_000019.10:11023531:G:A Identity +NM_032888.4:c.3651G>A NP_116277.2:p.Glu1217= NC_000009.12:114275701:G:A p.(Glu1217=) NC_000009.12:114275701:G:A p.(Glu1217=) NC_000009.12:114275701:G:A Identity +NM_001042594.2:c.342T>C NP_001036059.1:p.His114= NC_000007.14:124853105:A:G p.(His114=) NC_000007.14:124853105:A:G p.(His114=) NC_000007.14:124853105:A:G Identity +NM_002240.5:c.42C>A NP_002231.1:p.Gly14= NC_000021.9:37715114:G:T p.(Gly14=) NC_000021.9:37715114:G:T p.(Gly14=) NC_000021.9:37715114:G:T Identity +NM_001023570.4:c.280T>C NP_001018864.2:p.Leu94= NC_000003.12:121826163:A:G p.(Leu94=) NC_000003.12:121826163:A:G p.(Leu94=) NC_000003.12:121826163:A:G Identity +NM_000478.6:c.969C>T NP_000469.3:p.Asn323= NC_000001.11:21573770:C:T p.(Asn323=) NC_000001.11:21573770:C:T p.(Asn323=) NC_000001.11:21573770:C:T Identity +NM_000038.6:c.5094T>C NP_000029.2:p.Asp1698= NC_000005.10:112840687:T:C p.(Asp1698=) NC_000005.10:112840687:T:C p.(Asp1698=) NC_000005.10:112840687:T:C Identity +NM_000744.7:c.1380G>A NP_000735.1:p.Leu460= NC_000020.11:63350030:C:T p.(Leu460=) NC_000020.11:63350030:C:T p.(Leu460=) NC_000020.11:63350030:C:T Identity +NM_018052.5:c.267C>T NP_060522.3:p.Leu89= NC_000016.10:70785857:G:A p.(Leu89=) NC_000016.10:70785857:G:A p.(Leu89=) NC_000016.10:70785857:G:A Identity +NM_019074.4:c.1209G>A NP_061947.1:p.Val403= NC_000015.10:40935085:G:A p.(Val403=) NC_000015.10:40935085:G:A p.(Val403=) NC_000015.10:40935085:G:A Identity +NM_000721.4:c.591T>G NP_000712.2:p.Pro197= NC_000001.11:181577843:T:G p.(Pro197=) NC_000001.11:181577843:T:G p.(Pro197=) NC_000001.11:181577843:T:G Identity +NM_006516.4:c.930C>T NP_006507.2:p.Thr310= NC_000001.11:42929251:G:A p.(Thr310=) NC_000001.11:42929251:G:A p.(Thr310=) NC_000001.11:42929251:G:A Identity +NM_001318360.2:c.2646G>A NP_001305289.1:p.Leu882= NC_000009.12:108891374:C:T p.(Leu882=) NC_000009.12:108891374:C:T p.(Leu882=) NC_000009.12:108891374:C:T Identity +NM_001127671.2:c.375C>T NP_001121143.1:p.Phe125= NC_000005.10:38527176:G:A p.(Phe125=) NC_000005.10:38527176:G:A p.(Phe125=) NC_000005.10:38527176:G:A Identity +NM_000370.3:c.12G>T NP_000361.1:p.Ala4= NC_000008.11:63086009:C:A p.(Ala4=) NC_000008.11:63086009:C:A p.(Ala4=) NC_000008.11:63086009:C:A Identity +NM_001166159.2:c.942T>C NP_001159631.1:p.Val314= NC_000001.11:161210665:T:C p.(Val314=) NC_000001.11:161210665:T:C p.(Val314=) NC_000001.11:161210665:T:C Identity +NM_001135999.2:c.303C>T NP_001129471.2:p.Asn101= NC_000009.12:35546823:C:T p.(Asn101=) NC_000009.12:35546823:C:T p.(Asn101=) NC_000009.12:35546823:C:T Identity +NM_014510.3:c.2706A>G NP_055325.2:p.Ser902= NC_000007.14:83134843:T:C p.(Ser902=) NC_000007.14:83134843:T:C p.(Ser902=) NC_000007.14:83134843:T:C Identity +NM_001113178.3:c.2967G>A NP_001106649.1:p.Gln989= NC_000016.10:69692794:G:A p.(Gln989=) NC_000016.10:69692794:G:A p.(Gln989=) NC_000016.10:69692794:G:A Identity +NM_001165966.2:c.180G>C NP_001159438.1:p.Arg60= NC_000017.11:6484278:C:G p.(Arg60=) NC_000017.11:6484278:C:G p.(Arg60=) NC_000017.11:6484278:C:G Identity +NM_001374839.1:c.811C>T NP_001361768.1:p.Leu271= NC_000008.11:144414317:G:A p.(Leu271=) NC_000008.11:144414317:G:A p.(Leu271=) NC_000008.11:144414317:G:A Identity +NM_001290265.2:c.522G>A NP_001277194.1:p.Leu174= NC_000019.10:18879324:C:T p.(Leu174=) NC_000019.10:18879324:C:T p.(Leu174=) NC_000019.10:18879324:C:T Identity +NM_000076.2:c.523_524insCTCCGG NP_000067.1:p.Ala174_Val175insAlaPro NC_000011.10:2884966:CCG:CCGGAGCCG p.(Ala174_Val175insAlaPro) NC_000011.10:2884965:A:CCGGAG p.(Ala174_Val175insAlaPro) NC_000011.10:2884966:AC:CCGGAG Identity +NM_002796.3:c.286C>T NP_002787.2:p.Leu96= NC_000001.11:151400125:C:T p.(Leu96=) NC_000001.11:151400125:C:T p.(Leu96=) NC_000001.11:151400125:C:T Identity +NM_001315529.2:c.5812C>T NP_001302458.1:p.Leu1938= NC_000021.9:46416083:C:T p.(Leu1938=) NC_000021.9:46416083:C:T p.(Leu1938=) NC_000021.9:46416083:C:T Identity +NM_000720.4:c.801C>T NP_000711.1:p.Ala267= NC_000003.12:53665693:C:T p.(Ala267=) NC_000003.12:53665693:C:T p.(Ala267=) NC_000003.12:53665693:C:T Identity +NM_001370528.1:c.894C>A NP_001357457.1:p.Leu298= NC_000003.12:64147595:G:T p.(Leu298=) NC_000003.12:64147595:G:T p.(Leu298=) NC_000003.12:64147595:G:T Identity +NM_001365819.1:c.4197C>T NP_001352748.1:p.His1399= NC_000022.11:50455576:G:A p.(His1399=) NC_000022.11:50455576:G:A p.(His1399=) NC_000022.11:50455576:G:A Identity +NM_032888.4:c.3972A>G NP_116277.2:p.Gly1324= NC_000009.12:114284761:A:G p.(Gly1324=) NC_000009.12:114284761:A:G p.(Gly1324=) NC_000009.12:114284761:A:G Identity +NM_006231.4:c.4161C>G NP_006222.2:p.Val1387= NC_000012.12:132643965:G:C p.(Val1387=) NC_000012.12:132643965:G:C p.(Val1387=) NC_000012.12:132643965:G:C Identity +NM_182493.3:c.645C>T NP_872299.2:p.Asp215= NC_000016.10:46738066:G:A p.(Asp215=) NC_000016.10:46738066:G:A p.(Asp215=) NC_000016.10:46738066:G:A Identity +NM_000525.4:c.990C>T NP_000516.3:p.Tyr330= NC_000011.10:17387101:G:A p.(Tyr330=) NC_000011.10:17387101:G:A p.(Tyr330=) NC_000011.10:17387101:G:A Identity +NM_004369.4:c.3945C>T NP_004360.2:p.Ala1315= NC_000002.12:237372071:G:A p.(Ala1315=) NC_000002.12:237372071:G:A p.(Ala1315=) NC_000002.12:237372071:G:A Identity +NM_001282368.2:c.876T>C NP_001269297.1:p.Asp292= NC_000006.12:76005311:A:G p.(Asp292=) NC_000006.12:76005311:A:G p.(Asp292=) NC_000006.12:76005311:A:G Identity +NM_012479.4:c.663C>T NP_036611.2:p.Leu221= NC_000007.14:76329657:G:A p.(Leu221=) NC_000007.14:76329657:G:A p.(Leu221=) NC_000007.14:76329657:G:A Identity +NM_000179.3:c.705A>C NP_000170.1:p.Thr235= NC_000002.12:47798687:A:C p.(Thr235=) NC_000002.12:47798687:A:C p.(Thr235=) NC_000002.12:47798687:A:C Identity +NM_000495.5:c.1449C>T NP_000486.1:p.Asn483= NC_000023.11:108595533:C:T p.(Asn483=) NC_000023.11:108595533:C:T p.(Asn483=) NC_000023.11:108595533:C:T Identity +NM_001256560.2:c.393C>G NP_001243489.1:p.Ser131= NC_000003.12:58201059:G:C p.(Ser131=) NC_000003.12:58201059:G:C p.(Ser131=) NC_000003.12:58201059:G:C Identity +NM_001407571.1:c.1875T>C NP_001394500.1:p.Thr625= NC_000017.11:43093442:A:G p.(Thr625=) NC_000017.11:43093442:A:G p.(Thr625=) NC_000017.11:43093442:A:G Identity +NM_001377456.1:c.213T>A NP_001364385.1:p.Ile71= NC_000016.10:56514584:A:T p.(Ile71=) NC_000016.10:56514584:A:T p.(Ile71=) NC_000016.10:56514584:A:T Identity +NM_000093.5:c.5134C>T NP_000084.3:p.Leu1712= NC_000009.12:134830041:C:T p.(Leu1712=) NC_000009.12:134830041:C:T p.(Leu1712=) NC_000009.12:134830041:C:T Identity +NM_138694.4:c.10701G>A NP_619639.3:p.Val3567= NC_000006.12:51659424:C:T p.(Val3567=) NC_000006.12:51659424:C:T p.(Val3567=) NC_000006.12:51659424:C:T Identity +NM_000038.6:c.2679A>G NP_000029.2:p.Glu893= NC_000005.10:112838272:A:G p.(Glu893=) NC_000005.10:112838272:A:G p.(Glu893=) NC_000005.10:112838272:A:G Identity +NM_003791.4:c.2382G>C NP_003782.1:p.Ala794= NC_000016.10:84065738:C:G p.(Ala794=) NC_000016.10:84065738:C:G p.(Ala794=) NC_000016.10:84065738:C:G Identity +NM_000038.6:c.1404A>G NP_000029.2:p.Glu468= NC_000005.10:112821986:A:G p.(Glu468=) NC_000005.10:112821986:A:G p.(Glu468=) NC_000005.10:112821986:A:G Identity +NM_001318360.2:c.1314G>T NP_001305289.1:p.Ala438= NC_000009.12:108903656:C:A p.(Ala438=) NC_000009.12:108903656:C:A p.(Ala438=) NC_000009.12:108903656:C:A Identity +NM_000204.5:c.498A>G NP_000195.3:p.Gln166= NC_000004.12:109761676:T:C p.(Gln166=) NC_000004.12:109761676:T:C p.(Gln166=) NC_000004.12:109761676:T:C Identity +NM_001178075.2:c.516T>C NP_001171546.1:p.Asn172= NC_000007.14:97859306:A:G p.(Asn172=) NC_000007.14:97859306:A:G p.(Asn172=) NC_000007.14:97859306:A:G Identity +NM_003906.5:c.1686A>C NP_003897.2:p.Pro562= NC_000021.9:46277698:T:G p.(Pro562=) NC_000021.9:46277698:T:G p.(Pro562=) NC_000021.9:46277698:T:G Identity +NM_000283.4:c.267C>G NP_000274.3:p.Ala89= NC_000004.12:625892:C:G p.(Ala89=) NC_000004.12:625892:C:G p.(Ala89=) NC_000004.12:625892:C:G Identity +NM_020928.2:c.1810T>C NP_065979.1:p.Leu604= NC_000005.10:61526368:T:C p.(Leu604=) NC_000005.10:61526368:T:C p.(Leu604=) NC_000005.10:61526368:T:C Identity +NM_138694.4:c.11607C>A NP_619639.3:p.Ala3869= NC_000006.12:51632622:G:T p.(Ala3869=) NC_000006.12:51632622:G:T p.(Ala3869=) NC_000006.12:51632622:G:T Identity +NM_000109.4:c.2406C>T NP_000100.3:p.Ser802= NC_000023.11:32491468:G:A p.(Ser802=) NC_000023.11:32491468:G:A p.(Ser802=) NC_000023.11:32491468:G:A Identity +NM_001278666.2:c.510T>C NP_001265595.1:p.Leu170= NC_000006.12:57193905:A:G p.(Leu170=) NC_000006.12:57193905:A:G p.(Leu170=) NC_000006.12:57193905:A:G Identity +NM_001282237.2:c.801G>A NP_001269166.1:p.Pro267= NC_000014.9:99176031:C:T p.(Pro267=) NC_000014.9:99176031:C:T p.(Pro267=) NC_000014.9:99176031:C:T Identity +NM_000612.6:c.504C>T NP_000603.1:p.His168= NC_000011.10:2133025:G:A p.(His168=) NC_000011.10:2133025:G:A p.(His168=) NC_000011.10:2133025:G:A Identity +NM_001370528.1:c.2175A>G NP_001357457.1:p.Gln725= NC_000003.12:64099410:T:C p.(Gln725=) NC_000003.12:64099410:T:C p.(Gln725=) NC_000003.12:64099410:T:C Identity +NM_001370136.1:c.1957T>C NP_001357065.1:p.Leu653= NC_000010.11:74976293:T:C p.(Leu653=) NC_000010.11:74976293:T:C p.(Leu653=) NC_000010.11:74976293:T:C Identity +NM_001130823.3:c.2904G>C NP_001124295.1:p.Leu968= NC_000019.10:10143977:C:G p.(Leu968=) NC_000019.10:10143977:C:G p.(Leu968=) NC_000019.10:10143977:C:G Identity +NM_001172643.1:c.390G>A NP_001166114.1:p.Leu130= NC_000016.10:66517843:C:T p.(Leu130=) NC_000016.10:66517843:C:T p.(Leu130=) NC_000016.10:66517843:C:T Identity +NM_000751.3:c.921C>T NP_000742.1:p.Pro307= NC_000002.12:232531451:C:T p.(Pro307=) NC_000002.12:232531451:C:T p.(Pro307=) NC_000002.12:232531451:C:T Identity +NM_001285829.2:c.336C>A NP_001272758.1:p.Pro112= NC_000019.10:33301721:G:T p.(Pro112=) NC_000019.10:33301721:G:T p.(Pro112=) NC_000019.10:33301721:G:T Identity +NM_001320867.2:c.390C>T NP_001307796.1:p.Thr130= NC_000019.10:43511518:G:A p.(Thr130=) NC_000019.10:43511518:G:A p.(Thr130=) NC_000019.10:43511518:G:A Identity +NM_152309.3:c.642T>A NP_689522.2:p.Pro214= NC_000010.11:96652767:A:T p.(Pro214=) NC_000010.11:96652767:A:T p.(Pro214=) NC_000010.11:96652767:A:T Identity +NM_138694.4:c.8778G>A NP_619639.3:p.Arg2926= NC_000006.12:51754802:C:T p.(Arg2926=) NC_000006.12:51754802:C:T p.(Arg2926=) NC_000006.12:51754802:C:T Identity +NM_001281463.1:c.3384C>A NP_001268392.1:p.Ala1128= NC_000023.11:53381074:G:T p.(Ala1128=) NC_000023.11:53381074:G:T p.(Ala1128=) NC_000023.11:53381074:G:T Identity +NM_003322.6:c.315C>T NP_003313.3:p.Thr105= NC_000006.12:35511681:G:A p.(Thr105=) NC_000006.12:35511681:G:A p.(Thr105=) NC_000006.12:35511681:G:A Identity +NM_138694.4:c.840A>C NP_619639.3:p.Thr280= NC_000006.12:52066015:T:G p.(Thr280=) NC_000006.12:52066015:T:G p.(Thr280=) NC_000006.12:52066015:T:G Identity +NM_001128844.3:c.4617C>T NP_001122316.1:p.Phe1539= NC_000019.10:11058870:C:T p.(Phe1539=) NC_000019.10:11058870:C:T p.(Phe1539=) NC_000019.10:11058870:C:T Identity +NM_001362836.2:c.1735T>C NP_001349765.1:p.Leu579= NC_000008.11:105801975:T:C p.(Leu579=) NC_000008.11:105801975:T:C p.(Leu579=) NC_000008.11:105801975:T:C Identity +NM_000032.5:c.1623T>C NP_000023.2:p.Thr541= NC_000023.11:55009320:A:G p.(Thr541=) NC_000023.11:55009320:A:G p.(Thr541=) NC_000023.11:55009320:A:G Identity +NM_001290307.3:c.264G>A NP_001277236.1:p.Glu88= NC_000005.10:138783334:G:A p.(Glu88=) NC_000005.10:138783334:G:A p.(Glu88=) NC_000005.10:138783334:G:A Identity +NM_000260.4:c.4854A>G NP_000251.3:p.Ala1618= NC_000011.10:77201448:A:G p.(Ala1618=) NC_000011.10:77201448:A:G p.(Ala1618=) NC_000011.10:77201448:A:G Identity +NM_001145853.1:c.1056G>C NP_001139325.1:p.Leu352= NC_000004.12:6300850:G:C p.(Leu352=) NC_000004.12:6300850:G:C p.(Leu352=) NC_000004.12:6300850:G:C Identity +NM_138694.4:c.2814C>T NP_619639.3:p.Tyr938= NC_000006.12:52043631:G:A p.(Tyr938=) NC_000006.12:52043631:G:A p.(Tyr938=) NC_000006.12:52043631:G:A Identity +NM_001256267.2:c.972C>T NP_001243196.1:p.His324= NC_000010.11:68143008:C:T p.(His324=) NC_000010.11:68143008:C:T p.(His324=) NC_000010.11:68143008:C:T Identity +NM_015180.6:c.15666A>G NP_055995.4:p.Lys5222= NC_000014.9:64152589:A:G p.(Lys5222=) NC_000014.9:64152589:A:G p.(Lys5222=) NC_000014.9:64152589:A:G Identity +NM_001354705.2:c.2535C>T NP_001341634.1:p.Asn845= NC_000012.12:57581460:C:T p.(Asn845=) NC_000012.12:57581460:C:T p.(Asn845=) NC_000012.12:57581460:C:T Identity +NM_001128844.3:c.3459G>A NP_001122316.1:p.Leu1153= NC_000019.10:11030805:G:A p.(Leu1153=) NC_000019.10:11030805:G:A p.(Leu1153=) NC_000019.10:11030805:G:A Identity +NM_000402.4:c.723C>G NP_000393.4:p.Leu241= NC_000023.11:154534348:G:C p.(Leu241=) NC_000023.11:154534348:G:C p.(Leu241=) NC_000023.11:154534348:G:C Identity +NM_001290048.2:c.1341T>G NP_001276977.1:p.Gly447= NC_000011.10:63631183:A:C p.(Gly447=) NC_000011.10:63631183:A:C p.(Gly447=) NC_000011.10:63631183:A:C Identity +NM_001692.4:c.1140A>G NP_001683.2:p.Arg380= NC_000002.12:70963650:A:G p.(Arg380=) NC_000002.12:70963650:A:G p.(Arg380=) NC_000002.12:70963650:A:G Identity +NM_002838.5:c.1879C>T NP_002829.3:p.Leu627= NC_000001.11:198731630:C:T p.(Leu627=) NC_000001.11:198731630:C:T p.(Leu627=) NC_000001.11:198731630:C:T Identity +NM_001127178.3:c.1158G>A NP_001120650.1:p.Gly386= NC_000004.12:521098:G:A p.(Gly386=) NC_000004.12:521098:G:A p.(Gly386=) NC_000004.12:521098:G:A Identity +NM_000172.4:c.360G>C NP_000163.2:p.Ser120= NC_000003.12:50193573:G:C p.(Ser120=) NC_000003.12:50193573:G:C p.(Ser120=) NC_000003.12:50193573:G:C Identity +NM_001042749.2:c.2847A>G NP_001036214.1:p.Lys949= NC_000023.11:124081450:A:G p.(Lys949=) NC_000023.11:124081450:A:G p.(Lys949=) NC_000023.11:124081450:A:G Identity +NM_001377289.1:c.1131G>A NP_001364218.1:p.Gly377= NC_000006.12:70252161:C:T p.(Gly377=) NC_000006.12:70252161:C:T p.(Gly377=) NC_000006.12:70252161:C:T Identity +NM_001330311.2:c.61C>T NP_001317240.1:p.Leu21= NC_000001.11:1349004:G:A p.(Leu21=) NC_000001.11:1349004:G:A p.(Leu21=) NC_000001.11:1349004:G:A Identity +NM_002764.4:c.79C>T NP_002755.1:p.Leu27= NC_000023.11:107628706:C:T p.(Leu27=) NC_000023.11:107628706:C:T p.(Leu27=) NC_000023.11:107628706:C:T Identity +NM_001286216.2:c.1434G>C NP_001273145.1:p.Leu478= NC_000006.12:43621724:C:G p.(Leu478=) NC_000006.12:43621724:C:G p.(Leu478=) NC_000006.12:43621724:C:G Identity +NM_017999.5:c.465G>A NP_060469.4:p.Leu155= NC_000014.9:24148382:G:A p.(Leu155=) NC_000014.9:24148382:G:A p.(Leu155=) NC_000014.9:24148382:G:A Identity +NM_000944.5:c.270C>T NP_000935.1:p.Asp90= NC_000004.12:101109067:G:A p.(Asp90=) NC_000004.12:101109067:G:A p.(Asp90=) NC_000004.12:101109067:G:A Identity +NM_001365999.1:c.8793G>A NP_001352928.1:p.Leu2931= NC_000001.11:43443763:G:A p.(Leu2931=) NC_000001.11:43443763:G:A p.(Leu2931=) NC_000001.11:43443763:G:A Identity +NM_001015051.4:c.1149C>T NP_001015051.3:p.Thr383= NC_000006.12:45546953:C:T p.(Thr383=) NC_000006.12:45546953:C:T p.(Thr383=) NC_000006.12:45546953:C:T Identity +NM_001308176.2:c.2580G>C NP_001295105.1:p.Gly860= NC_000018.10:27952200:C:G p.(Gly860=) NC_000018.10:27952200:C:G p.(Gly860=) NC_000018.10:27952200:C:G Identity +NM_001346599.2:c.1329A>C NP_001333528.1:p.Thr443= NC_000007.14:105555118:A:C p.(Thr443=) NC_000007.14:105555118:A:C p.(Thr443=) NC_000007.14:105555118:A:C Identity +NM_001130009.3:c.2634A>G NP_001123481.3:p.Leu878= NC_000002.12:17781845:A:G p.(Leu878=) NC_000002.12:17781845:A:G p.(Leu878=) NC_000002.12:17781845:A:G Identity +NM_001003722.2:c.165C>T NP_001003722.1:p.His55= NC_000009.12:128508940:C:T p.(His55=) NC_000009.12:128508940:C:T p.(His55=) NC_000009.12:128508940:C:T Identity +NM_000372.5:c.570G>A NP_000363.1:p.Gly190= NC_000011.10:89178522:G:A p.(Gly190=) NC_000011.10:89178522:G:A p.(Gly190=) NC_000011.10:89178522:G:A Identity +NM_000038.6:c.6549T>A NP_000029.2:p.Ser2183= NC_000005.10:112842142:T:A p.(Ser2183=) NC_000005.10:112842142:T:A p.(Ser2183=) NC_000005.10:112842142:T:A Identity +NM_001190799.2:c.82A>C NP_001177728.1:p.Arg28= NC_000004.12:127881881:A:C p.(Arg28=) NC_000004.12:127881881:A:C p.(Arg28=) NC_000004.12:127881881:A:C Identity +NM_001317012.2:c.945C>T NP_001303941.1:p.Ser315= NC_000020.11:23365327:C:T p.(Ser315=) NC_000020.11:23365327:C:T p.(Ser315=) NC_000020.11:23365327:C:T Identity +NM_000080.4:c.117C>T NP_000071.1:p.Ser39= NC_000017.11:4902692:G:A p.(Ser39=) NC_000017.11:4902692:G:A p.(Ser39=) NC_000017.11:4902692:G:A Identity +NM_001252678.2:c.192C>T NP_001239607.1:p.Tyr64= NC_000015.10:72729680:C:T p.(Tyr64=) NC_000015.10:72729680:C:T p.(Tyr64=) NC_000015.10:72729680:C:T Identity +NM_207391.3:c.573C>T NP_997274.2:p.Ala191= NC_000019.10:32676835:C:T p.(Ala191=) NC_000019.10:32676835:C:T p.(Ala191=) NC_000019.10:32676835:C:T Identity +NM_000066.4:c.297G>T NP_000057.3:p.Pro99= NC_000001.11:56956862:C:A p.(Pro99=) NC_000001.11:56956862:C:A p.(Pro99=) NC_000001.11:56956862:C:A Identity +NM_001278511.2:c.1380A>G NP_001265440.1:p.Thr460= NC_000015.10:82677285:T:C p.(Thr460=) NC_000015.10:82677285:T:C p.(Thr460=) NC_000015.10:82677285:T:C Identity +NM_000489.6:c.4362_4370del NP_000480.3:p.Glu1462_Glu1464del NC_000023.11:77652300:TCCTCCTCTTCCTCCTC:TCCTCCTC p.(Glu1462_Glu1464del) NC_000023.11:77652300:TCCTCCTCTTCCTCCTC:TCCTCCTC p.(Glu1462_Glu1464del) NC_000023.11:77652300:TCCTCCTCT: Identity +NM_021620.4:c.600C>T NP_067633.2:p.Ala200= NC_000006.12:99613234:C:T p.(Ala200=) NC_000006.12:99613234:C:T p.(Ala200=) NC_000006.12:99613234:C:T Identity +NM_000059.4:c.8280C>T NP_000050.3:p.Gly2760= NC_000013.11:32363481:C:T p.(Gly2760=) NC_000013.11:32363481:C:T p.(Gly2760=) NC_000013.11:32363481:C:T Identity +NM_003906.5:c.2694C>A NP_003897.2:p.Ile898= NC_000021.9:46267076:G:T p.(Ile898=) NC_000021.9:46267076:G:T p.(Ile898=) NC_000021.9:46267076:G:T Identity +NM_001242920.2:c.852C>T NP_001229849.1:p.Leu284= NC_000020.11:45902304:G:A p.(Leu284=) NC_000020.11:45902304:G:A p.(Leu284=) NC_000020.11:45902304:G:A Identity +NM_003659.4:c.183G>T NP_003650.1:p.Arg61= NC_000002.12:177392971:G:T p.(Arg61=) NC_000002.12:177392971:G:T p.(Arg61=) NC_000002.12:177392971:G:T Identity +NM_000719.7:c.1116C>A NP_000710.5:p.Val372= NC_000012.12:2504843:C:A p.(Val372=) NC_000012.12:2504843:C:A p.(Val372=) NC_000012.12:2504843:C:A Identity +NM_000717.5:c.934C>A NP_000708.1:p.Arg312= NC_000017.11:60159418:C:A p.(Arg312=) NC_000017.11:60159418:C:A p.(Arg312=) NC_000017.11:60159418:C:A Identity +NM_000440.3:c.1488A>G NP_000431.2:p.Pro496= NC_000005.10:149896487:T:C p.(Pro496=) NC_000005.10:149896487:T:C p.(Pro496=) NC_000005.10:149896487:T:C Identity +NM_000742.4:c.48G>A NP_000733.2:p.Leu16= NC_000008.11:27471010:C:T p.(Leu16=) NC_000008.11:27471010:C:T p.(Leu16=) NC_000008.11:27471010:C:T Identity +NM_001277126.2:c.2016G>C NP_001264055.1:p.Ala672= NC_000019.10:53809642:C:G p.(Ala672=) NC_000019.10:53809642:C:G p.(Ala672=) NC_000019.10:53809642:C:G Identity +NM_001042594.2:c.1467T>C NP_001036059.1:p.Ile489= NC_000007.14:124824006:A:G p.(Ile489=) NC_000007.14:124824006:A:G p.(Ile489=) NC_000007.14:124824006:A:G Identity +NM_001039885.3:c.501G>A NP_001034974.1:p.Arg167= NC_000019.10:46755950:G:A p.(Arg167=) NC_000019.10:46755950:G:A p.(Arg167=) NC_000019.10:46755950:G:A Identity +NM_001317184.2:c.1362A>G NP_001304113.1:p.Thr454= NC_000016.10:68815738:A:G p.(Thr454=) NC_000016.10:68815738:A:G p.(Thr454=) NC_000016.10:68815738:A:G Identity +NM_000361.3:c.945G>T NP_000352.1:p.Arg315= NC_000020.11:23048559:C:A p.(Arg315=) NC_000020.11:23048559:C:A p.(Arg315=) NC_000020.11:23048559:C:A Identity +NM_006059.4:c.3606G>A NP_006050.3:p.Glu1202= NC_000009.12:131075941:G:A p.(Glu1202=) NC_000009.12:131075941:G:A p.(Glu1202=) NC_000009.12:131075941:G:A Identity +NM_000064.4:c.2526C>T NP_000055.2:p.Asn842= NC_000019.10:6697708:G:A p.(Asn842=) NC_000019.10:6697708:G:A p.(Asn842=) NC_000019.10:6697708:G:A Identity +NM_000335.5:c.2589G>A NP_000326.2:p.Lys863= NC_000003.12:38585888:C:T p.(Lys863=) NC_000003.12:38585888:C:T p.(Lys863=) NC_000003.12:38585888:C:T Identity +NM_000228.3:c.1461C>T NP_000219.2:p.Asn487= NC_000001.11:209627406:G:A p.(Asn487=) NC_000001.11:209627406:G:A p.(Asn487=) NC_000001.11:209627406:G:A Identity +NM_000260.4:c.1608C>T NP_000251.3:p.Ala536= NC_000011.10:77162905:C:T p.(Ala536=) NC_000011.10:77162905:C:T p.(Ala536=) NC_000011.10:77162905:C:T Identity +NM_001367624.2:c.795C>T NP_001354553.1:p.Gly265= NC_000016.10:88428264:C:T p.(Gly265=) NC_000016.10:88428264:C:T p.(Gly265=) NC_000016.10:88428264:C:T Identity +NM_001172696.2:c.705C>T NP_001166167.1:p.Gly235= NC_000012.12:57796246:C:T p.(Gly235=) NC_000012.12:57796246:C:T p.(Gly235=) NC_000012.12:57796246:C:T Identity +NM_000748.3:c.57G>A NP_000739.1:p.Leu19= NC_000001.11:154568100:G:A p.(Leu19=) NC_000001.11:154568100:G:A p.(Leu19=) NC_000001.11:154568100:G:A Identity +NM_000064.4:c.1707G>A NP_000055.2:p.Gln569= NC_000019.10:6709821:C:T p.(Gln569=) NC_000019.10:6709821:C:T p.(Gln569=) NC_000019.10:6709821:C:T Identity +NM_001128844.3:c.468T>C NP_001122316.1:p.Gly156= NC_000019.10:10986300:T:C p.(Gly156=) NC_000019.10:10986300:T:C p.(Gly156=) NC_000019.10:10986300:T:C Identity +NM_001167595.2:c.345C>T NP_001161067.1:p.Ser115= NC_000005.10:34005801:G:A p.(Ser115=) NC_000005.10:34005801:G:A p.(Ser115=) NC_000005.10:34005801:G:A Identity +NM_000050.4:c.729C>G NP_000041.2:p.Thr243= NC_000009.12:130479755:C:G p.(Thr243=) NC_000009.12:130479755:C:G p.(Thr243=) NC_000009.12:130479755:C:G Identity +NM_001291285.3:c.12147G>A NP_001278214.1:p.Lys4049= NC_000004.12:125468752:G:A p.(Lys4049=) NC_000004.12:125468752:G:A p.(Lys4049=) NC_000004.12:125468752:G:A Identity +NM_001271.4:c.2743T>C NP_001262.3:p.Leu915= NC_000015.10:92979149:T:C p.(Leu915=) NC_000015.10:92979149:T:C p.(Leu915=) NC_000015.10:92979149:T:C Identity +NM_001145252.3:c.909C>T NP_001138724.1:p.Thr303= NC_000023.11:47626803:G:A p.(Thr303=) NC_000023.11:47626803:G:A p.(Thr303=) NC_000023.11:47626803:G:A Identity +NM_001130955.2:c.558C>T NP_001124427.2:p.Ser186= NC_000019.10:7441975:C:T p.(Ser186=) NC_000019.10:7441975:C:T p.(Ser186=) NC_000019.10:7441975:C:T Identity +NM_004104.5:c.712C>T NP_004095.4:p.Leu238= NC_000017.11:82092962:G:A p.(Leu238=) NC_000017.11:82092962:G:A p.(Leu238=) NC_000017.11:82092962:G:A Identity +NM_020708.5:c.39G>C NP_065759.1:p.Gly13= NC_000020.11:46029382:G:C p.(Gly13=) NC_000020.11:46029382:G:C p.(Gly13=) NC_000020.11:46029382:G:C Identity +NM_152268.4:c.1083C>T NP_689481.2:p.Val361= NC_000001.11:54758078:G:A p.(Val361=) NC_000001.11:54758078:G:A p.(Val361=) NC_000001.11:54758078:G:A Identity +NM_001310332.2:c.2454C>T NP_001297261.1:p.Cys818= NC_000014.9:24159870:C:T p.(Cys818=) NC_000014.9:24159870:C:T p.(Cys818=) NC_000014.9:24159870:C:T Identity +NM_000497.4:c.1203A>T NP_000488.3:p.Thr401= NC_000008.11:142875151:T:A p.(Thr401=) NC_000008.11:142875151:T:A p.(Thr401=) NC_000008.11:142875151:T:A Identity +NM_001172643.1:c.393G>C NP_001166114.1:p.Ser131= NC_000016.10:66517840:C:G p.(Ser131=) NC_000016.10:66517840:C:G p.(Ser131=) NC_000016.10:66517840:C:G Identity +NM_000286.3:c.708G>A NP_000277.1:p.Leu236= NC_000017.11:35576153:C:T p.(Leu236=) NC_000017.11:35576153:C:T p.(Leu236=) NC_000017.11:35576153:C:T Identity +NM_000440.3:c.2523G>A NP_000431.2:p.Gln841= NC_000005.10:149860954:C:T p.(Gln841=) NC_000005.10:149860954:C:T p.(Gln841=) NC_000005.10:149860954:C:T Identity +NM_001080517.3:c.2400C>T NP_001073986.1:p.Pro800= NC_000003.12:9453791:C:T p.(Pro800=) NC_000003.12:9453791:C:T p.(Pro800=) NC_000003.12:9453791:C:T Identity +NM_001290553.2:c.1041A>G NP_001277482.1:p.Ala347= NC_000001.11:202941659:T:C p.(Ala347=) NC_000001.11:202941659:T:C p.(Ala347=) NC_000001.11:202941659:T:C Identity +NM_001135649.3:c.960C>T NP_001129121.1:p.Ser320= NC_000002.12:88448509:G:A p.(Ser320=) NC_000002.12:88448509:G:A p.(Ser320=) NC_000002.12:88448509:G:A Identity +NM_000350.3:c.114C>G NP_000341.2:p.Val38= NC_000001.11:94113018:G:C p.(Val38=) NC_000001.11:94113018:G:C p.(Val38=) NC_000001.11:94113018:G:C Identity +NM_173689.7:c.2199C>T NP_775960.4:p.Phe733= NC_000009.12:123371340:C:T p.(Phe733=) NC_000009.12:123371340:C:T p.(Phe733=) NC_000009.12:123371340:C:T Identity +NM_144670.6:c.342A>C NP_653271.3:p.Leu114= NC_000012.12:8823814:A:C p.(Leu114=) NC_000012.12:8823814:A:C p.(Leu114=) NC_000012.12:8823814:A:C Identity +NM_006269.2:c.3388C>T NP_006260.1:p.Leu1130= NC_000008.11:54627269:C:T p.(Leu1130=) NC_000008.11:54627269:C:T p.(Leu1130=) NC_000008.11:54627269:C:T Identity +NM_000349.3:c.600T>C NP_000340.2:p.Ala200= NC_000008.11:38146012:A:G p.(Ala200=) NC_000008.11:38146012:A:G p.(Ala200=) NC_000008.11:38146012:A:G Identity +NM_001036.6:c.8997C>A NP_001027.3:p.Pro2999= NC_000015.10:33772099:C:A p.(Pro2999=) NC_000015.10:33772099:C:A p.(Pro2999=) NC_000015.10:33772099:C:A Identity +NM_144701.3:c.702A>G NP_653302.2:p.Thr234= NC_000001.11:67206958:A:G p.(Thr234=) NC_000001.11:67206958:A:G p.(Thr234=) NC_000001.11:67206958:A:G Identity +NM_001130455.2:c.3273C>T NP_001123927.1:p.Arg1091= NC_000002.12:71574292:C:T p.(Arg1091=) NC_000002.12:71574292:C:T p.(Arg1091=) NC_000002.12:71574292:C:T Identity +NM_001282404.2:c.171C>T NP_001269333.1:p.Asn57= NC_000007.14:76060434:C:T p.(Asn57=) NC_000007.14:76060434:C:T p.(Asn57=) NC_000007.14:76060434:C:T Identity +NM_138694.4:c.9060G>A NP_619639.3:p.Leu3020= NC_000006.12:51748555:C:T p.(Leu3020=) NC_000006.12:51748555:C:T p.(Leu3020=) NC_000006.12:51748555:C:T Identity +NM_000228.3:c.2755C>T NP_000219.2:p.Leu919= NC_000001.11:209618605:G:A p.(Leu919=) NC_000001.11:209618605:G:A p.(Leu919=) NC_000001.11:209618605:G:A Identity +NM_000498.3:c.75C>A NP_000489.3:p.Gly25= NC_000008.11:142917765:G:T p.(Gly25=) NC_000008.11:142917765:G:T p.(Gly25=) NC_000008.11:142917765:G:T Identity +NM_001172643.1:c.255C>T NP_001166114.1:p.Thr85= NC_000016.10:66531406:G:A p.(Thr85=) NC_000016.10:66531406:G:A p.(Thr85=) NC_000016.10:66531406:G:A Identity +NM_000434.4:c.1056T>C NP_000425.1:p.Asn352= NC_000006.12:31859910:A:G p.(Asn352=) NC_000006.12:31859910:A:G p.(Asn352=) NC_000006.12:31859910:A:G Identity +NM_001385110.1:c.1167T>C NP_001372039.1:p.Phe389= NC_000012.12:56350105:A:G p.(Phe389=) NC_000012.12:56350105:A:G p.(Phe389=) NC_000012.12:56350105:A:G Identity +NM_000109.4:c.2421C>T NP_000100.3:p.Phe807= NC_000023.11:32491453:G:A p.(Phe807=) NC_000023.11:32491453:G:A p.(Phe807=) NC_000023.11:32491453:G:A Identity +NM_002133.3:c.282C>G NP_002124.1:p.Ala94= NC_000022.11:35386821:C:G p.(Ala94=) NC_000022.11:35386821:C:G p.(Ala94=) NC_000022.11:35386821:C:G Identity +NM_001148.6:c.4773A>G NP_001139.3:p.Glu1591= NC_000004.12:113353390:A:G p.(Glu1591=) NC_000004.12:113353390:A:G p.(Glu1591=) NC_000004.12:113353390:A:G Identity +NM_002335.4:c.696G>A NP_002326.2:p.Val232= NC_000011.10:68363755:G:A p.(Val232=) NC_000011.10:68363755:G:A p.(Val232=) NC_000011.10:68363755:G:A Identity +NM_001267727.2:c.180C>T NP_001254656.1:p.Asp60= NC_000017.11:68307672:C:T p.(Asp60=) NC_000017.11:68307672:C:T p.(Asp60=) NC_000017.11:68307672:C:T Identity +NM_003482.4:c.7614C>T NP_003473.3:p.Phe2538= NC_000012.12:49040155:G:A p.(Phe2538=) NC_000012.12:49040155:G:A p.(Phe2538=) NC_000012.12:49040155:G:A Identity +NM_006662.3:c.3033G>A NP_006653.2:p.Val1011= NC_000016.10:30720757:G:A p.(Val1011=) NC_000016.10:30720757:G:A p.(Val1011=) NC_000016.10:30720757:G:A Identity +NM_015629.4:c.300C>T NP_056444.3:p.Thr100= NC_000019.10:54121920:C:T p.(Thr100=) NC_000019.10:54121920:C:T p.(Thr100=) NC_000019.10:54121920:C:T Identity +NM_001388492.1:c.3531T>A NP_001375421.1:p.Ser1177= NC_000004.12:3154324:T:A p.(Ser1177=) NC_000004.12:3154324:T:A p.(Ser1177=) NC_000004.12:3154324:T:A Identity +NM_021961.6:c.1128T>C NP_068780.2:p.Tyr376= NC_000011.10:12930286:T:C p.(Tyr376=) NC_000011.10:12930286:T:C p.(Tyr376=) NC_000011.10:12930286:T:C Identity +NM_000080.4:c.1098C>A NP_000071.1:p.Ala366= NC_000017.11:4899318:G:T p.(Ala366=) NC_000017.11:4899318:G:T p.(Ala366=) NC_000017.11:4899318:G:T Identity +NM_138694.4:c.7776C>T NP_619639.3:p.Asp2592= NC_000006.12:51856027:G:A p.(Asp2592=) NC_000006.12:51856027:G:A p.(Asp2592=) NC_000006.12:51856027:G:A Identity +NM_001136029.4:c.4263G>C NP_001129501.1:p.Leu1421= NC_000022.11:31897567:G:C p.(Leu1421=) NC_000022.11:31897567:G:C p.(Leu1421=) NC_000022.11:31897567:G:C Identity +NM_001304482.2:c.2367G>A NP_001291411.1:p.Pro789= NC_000003.12:47410542:G:A p.(Pro789=) NC_000003.12:47410542:G:A p.(Pro789=) NC_000003.12:47410542:G:A Identity +NM_001318245.2:c.5080T>C NP_001305174.1:p.Leu1694= NC_000022.11:25903759:T:C p.(Leu1694=) NC_000022.11:25903759:T:C p.(Leu1694=) NC_000022.11:25903759:T:C Identity +NM_004004.6:c.135A>T NP_003995.2:p.Gly45= NC_000013.11:20189446:T:A p.(Gly45=) NC_000013.11:20189446:T:A p.(Gly45=) NC_000013.11:20189446:T:A Identity +NM_001317184.2:c.1680C>G NP_001304113.1:p.Pro560= NC_000016.10:68822151:C:G p.(Pro560=) NC_000016.10:68822151:C:G p.(Pro560=) NC_000016.10:68822151:C:G Identity +NM_001030311.3:c.1092A>T NP_001025482.1:p.Arg364= NC_000002.12:181548738:T:A p.(Arg364=) NC_000002.12:181548738:T:A p.(Arg364=) NC_000002.12:181548738:T:A Identity +NM_001365819.1:c.2922G>T NP_001352748.1:p.Val974= NC_000022.11:50461206:C:A p.(Val974=) NC_000022.11:50461206:C:A p.(Val974=) NC_000022.11:50461206:C:A Identity +NM_001310332.2:c.1086G>A NP_001297261.1:p.Gln362= NC_000014.9:24151180:G:A p.(Gln362=) NC_000014.9:24151180:G:A p.(Gln362=) NC_000014.9:24151180:G:A Identity +NM_001291285.3:c.1719A>G NP_001278214.1:p.Leu573= NC_000004.12:125318129:A:G p.(Leu573=) NC_000004.12:125318129:A:G p.(Leu573=) NC_000004.12:125318129:A:G Identity +NM_138694.4:c.10638C>T NP_619639.3:p.Val3546= NC_000006.12:51659487:G:A p.(Val3546=) NC_000006.12:51659487:G:A p.(Val3546=) NC_000006.12:51659487:G:A Identity +NM_000535.7:c.2562C>G NP_000526.2:p.Ala854= NC_000007.14:5973425:G:C p.(Ala854=) NC_000007.14:5973425:G:C p.(Ala854=) NC_000007.14:5973425:G:C Identity +NM_000721.4:c.3477C>A NP_000712.2:p.Ile1159= NC_000001.11:181737578:C:A p.(Ile1159=) NC_000001.11:181737578:C:A p.(Ile1159=) NC_000001.11:181737578:C:A Identity +NM_001105540.2:c.213C>T NP_001099010.1:p.Ser71= NC_000011.10:46366468:C:T p.(Ser71=) NC_000011.10:46366468:C:T p.(Ser71=) NC_000011.10:46366468:C:T Identity +LRG_1213t1:c.2025A>G LRG_1213p1:p.Arg675= NC_000001.11:12271045:A:G ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found ERR:AlignmentMapper(tx_ac=LRG_1213t1, alt_ac=LRG_1213t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1213t1, alt_ac=LRG_1213t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found +NM_016580.4:c.801C>T NP_057664.1:p.Thr267= NC_000005.10:141957050:G:A p.(Thr267=) NC_000005.10:141957050:G:A p.(Thr267=) NC_000005.10:141957050:G:A Identity +NM_004946.3:c.5418C>T NP_004937.1:p.Phe1806= NC_000005.10:170081971:C:T p.(Phe1806=) NC_000005.10:170081971:C:T p.(Phe1806=) NC_000005.10:170081971:C:T Identity +NM_001130455.2:c.1773C>G NP_001123927.1:p.Arg591= NC_000002.12:71553027:C:G p.(Arg591=) NC_000002.12:71553027:C:G p.(Arg591=) NC_000002.12:71553027:C:G Identity +NM_015509.4:c.93C>T NP_056324.2:p.Tyr31= NC_000012.12:8082380:C:T p.(Tyr31=) NC_000012.12:8082380:C:T p.(Tyr31=) NC_000012.12:8082380:C:T Identity +NM_001321967.2:c.531C>T NP_001308896.1:p.Val177= NC_000010.11:87784521:G:A p.(Val177=) NC_000010.11:87784521:G:A p.(Val177=) NC_000010.11:87784521:G:A Identity +NM_001178129.2:c.57T>C NP_001171600.1:p.Tyr19= NC_000007.14:83490152:A:G p.(Tyr19=) NC_000007.14:83490152:A:G p.(Tyr19=) NC_000007.14:83490152:A:G Identity +NM_004523.4:c.879G>A NP_004514.2:p.Leu293= NC_000010.11:92613465:G:A p.(Leu293=) NC_000010.11:92613465:G:A p.(Leu293=) NC_000010.11:92613465:G:A Identity +NM_000497.4:c.93C>T NP_000488.3:p.Val31= NC_000008.11:142879720:G:A p.(Val31=) NC_000008.11:142879720:G:A p.(Val31=) NC_000008.11:142879720:G:A Identity +NM_001385110.1:c.1578C>T NP_001372039.1:p.Ser526= NC_000012.12:56348769:G:A p.(Ser526=) NC_000012.12:56348769:G:A p.(Ser526=) NC_000012.12:56348769:G:A Identity +NM_005101.4:c.82C>T NP_005092.1:p.Leu28= NC_000001.11:1014061:C:T p.(Leu28=) NC_000001.11:1014061:C:T p.(Leu28=) NC_000001.11:1014061:C:T Identity +NM_173849.3:c.339C>T NP_776248.1:p.Cys113= NC_000014.9:94769676:G:A p.(Cys113=) NC_000014.9:94769676:G:A p.(Cys113=) NC_000014.9:94769676:G:A Identity +NM_138459.5:c.330G>A NP_612468.1:p.Gln110= NC_000006.12:117675999:G:A p.(Gln110=) NC_000006.12:117675999:G:A p.(Gln110=) NC_000006.12:117675999:G:A Identity +NM_138694.4:c.10362G>A NP_619639.3:p.Gly3454= NC_000006.12:51659763:C:T p.(Gly3454=) NC_000006.12:51659763:C:T p.(Gly3454=) NC_000006.12:51659763:C:T Identity +NM_004994.3:c.588C>G NP_004985.2:p.Pro196= NC_000020.11:46010988:C:G p.(Pro196=) NC_000020.11:46010988:C:G p.(Pro196=) NC_000020.11:46010988:C:G Identity +NM_000191.3:c.150C>A NP_000182.2:p.Ile50= NC_000001.11:23817577:G:T p.(Ile50=) NC_000001.11:23817577:G:T p.(Ile50=) NC_000001.11:23817577:G:T Identity +NM_001198798.2:c.717C>G NP_001185727.1:p.Ala239= NC_000010.11:72152897:G:C p.(Ala239=) NC_000010.11:72152897:G:C p.(Ala239=) NC_000010.11:72152897:G:C Identity +NM_001042494.2:c.1077C>T NP_001035959.1:p.Ala359= NC_000015.10:34252248:G:A p.(Ala359=) NC_000015.10:34252248:G:A p.(Ala359=) NC_000015.10:34252248:G:A Identity +NM_001100913.3:c.432A>G NP_001094383.2:p.Gln144= NC_000014.9:105367220:A:G p.(Gln144=) NC_000014.9:105367220:A:G p.(Gln144=) NC_000014.9:105367220:A:G Identity +NM_001385907.1:c.1081C>T NP_001372836.1:p.Leu361= NC_000009.12:32488069:G:A p.(Leu361=) NC_000009.12:32488069:G:A p.(Leu361=) NC_000009.12:32488069:G:A Identity +NM_001278.5:c.582G>A NP_001269.3:p.Glu194= NC_000010.11:100219114:C:T p.(Glu194=) NC_000010.11:100219114:C:T p.(Glu194=) NC_000010.11:100219114:C:T Identity +NM_001195573.1:c.1611T>C NP_001182502.1:p.Phe537= NC_000014.9:95116593:A:G p.(Phe537=) NC_000014.9:95116593:A:G p.(Phe537=) NC_000014.9:95116593:A:G Identity +NM_001164317.2:c.5046G>T NP_001157789.1:p.Thr1682= NC_000003.12:58138372:G:T p.(Thr1682=) NC_000003.12:58138372:G:T p.(Thr1682=) NC_000003.12:58138372:G:T Identity +NM_001160130.2:c.1840C>T NP_001153602.1:p.Leu614= NC_000006.12:73194481:C:T p.(Leu614=) NC_000006.12:73194481:C:T p.(Leu614=) NC_000006.12:73194481:C:T Identity +NM_001291285.3:c.10206C>T NP_001278214.1:p.Asp3402= NC_000004.12:125451215:C:T p.(Asp3402=) NC_000004.12:125451215:C:T p.(Asp3402=) NC_000004.12:125451215:C:T Identity +NM_001351508.2:c.645T>G NP_001338437.1:p.Thr215= NC_000002.12:70216437:A:C p.(Thr215=) NC_000002.12:70216437:A:C p.(Thr215=) NC_000002.12:70216437:A:C Identity +NM_001330763.2:c.1110C>T NP_001317692.1:p.Thr370= NC_000020.11:2658798:G:A p.(Thr370=) NC_000020.11:2658798:G:A p.(Thr370=) NC_000020.11:2658798:G:A Identity +NM_001288705.3:c.1119C>T NP_001275634.1:p.Pro373= NC_000005.10:150070534:G:A p.(Pro373=) NC_000005.10:150070534:G:A p.(Pro373=) NC_000005.10:150070534:G:A Identity +NM_001256849.1:c.2614C>T NP_001243778.1:p.Leu872= NC_000019.10:50415486:C:T p.(Leu872=) NC_000019.10:50415486:C:T p.(Leu872=) NC_000019.10:50415486:C:T Identity +NM_001407571.1:c.2418T>C NP_001394500.1:p.Asn806= NC_000017.11:43092899:A:G p.(Asn806=) NC_000017.11:43092899:A:G p.(Asn806=) NC_000017.11:43092899:A:G Identity +NM_000396.4:c.861G>A NP_000387.1:p.Lys287= NC_000001.11:150799196:C:T p.(Lys287=) NC_000001.11:150799196:C:T p.(Lys287=) NC_000001.11:150799196:C:T Identity +NM_023935.3:c.78C>T NP_076424.1:p.Gly26= NC_000020.11:3204549:G:A p.(Gly26=) NC_000020.11:3204549:G:A p.(Gly26=) NC_000020.11:3204549:G:A Identity +NM_000109.4:c.282A>G NP_000100.3:p.Gly94= NC_000023.11:32823345:T:C p.(Gly94=) NC_000023.11:32823345:T:C p.(Gly94=) NC_000023.11:32823345:T:C Identity +NM_000101.4:c.99C>T NP_000092.2:p.Phe33= NC_000016.10:88648073:G:A p.(Phe33=) NC_000016.10:88648073:G:A p.(Phe33=) NC_000016.10:88648073:G:A Identity +NM_000246.4:c.2238C>T NP_000237.2:p.Pro746= NC_000016.10:10907729:C:T p.(Pro746=) NC_000016.10:10907729:C:T p.(Pro746=) NC_000016.10:10907729:C:T Identity +NM_001163435.3:c.2103T>C NP_001156907.2:p.Phe701= NC_000004.12:106171226:A:G p.(Phe701=) NC_000004.12:106171226:A:G p.(Phe701=) NC_000004.12:106171226:A:G Identity +NM_001081676.2:c.4194C>T NP_001075145.1:p.Tyr1398= NC_000002.12:165095600:G:A p.(Tyr1398=) NC_000002.12:165095600:G:A p.(Tyr1398=) NC_000002.12:165095600:G:A Identity +NM_000548.5:c.3315C>G NP_000539.2:p.Thr1105= NC_000016.10:2079586:C:G p.(Thr1105=) NC_000016.10:2079586:C:G p.(Thr1105=) NC_000016.10:2079586:C:G Identity +NM_000390.4:c.1257T>C NP_000381.1:p.Ile419= NC_000023.11:85901175:A:G p.(Ile419=) NC_000023.11:85901175:A:G p.(Ile419=) NC_000023.11:85901175:A:G Identity +NM_012106.4:c.405A>C NP_036238.1:p.Arg135= NC_000016.10:57252179:A:C p.(Arg135=) NC_000016.10:57252179:A:C p.(Arg135=) NC_000016.10:57252179:A:C Identity +NM_001244735.2:c.30C>T NP_001231664.1:p.Asp10= NC_000011.10:85654215:C:T p.(Asp10=) NC_000011.10:85654215:C:T p.(Asp10=) NC_000011.10:85654215:C:T Identity +NM_000441.2:c.2073T>C NP_000432.1:p.Tyr691= NC_000007.14:107704368:T:C p.(Tyr691=) NC_000007.14:107704368:T:C p.(Tyr691=) NC_000007.14:107704368:T:C Identity +NM_004946.3:c.4635G>A NP_004937.1:p.Lys1545= NC_000005.10:170067676:G:A p.(Lys1545=) NC_000005.10:170067676:G:A p.(Lys1545=) NC_000005.10:170067676:G:A Identity +NM_199165.2:c.183C>G NP_954634.1:p.Pro61= NC_000014.9:104730074:C:G p.(Pro61=) NC_000014.9:104730074:C:G p.(Pro61=) NC_000014.9:104730074:C:G Identity +NM_001354609.2:c.2229T>C NP_001341538.1:p.Phe743= NC_000007.14:140734668:A:G p.(Phe743=) NC_000007.14:140734668:A:G p.(Phe743=) NC_000007.14:140734668:A:G Identity +NM_001277126.2:c.2787C>T NP_001264055.1:p.Ala929= NC_000019.10:53798385:G:A p.(Ala929=) NC_000019.10:53798385:G:A p.(Ala929=) NC_000019.10:53798385:G:A Identity +NM_001130455.2:c.1425C>T NP_001123927.1:p.Ile475= NC_000002.12:71539180:C:T p.(Ile475=) NC_000002.12:71539180:C:T p.(Ile475=) NC_000002.12:71539180:C:T Identity +NM_022095.4:c.3507C>T NP_071378.1:p.His1169= NC_000020.11:45950049:G:A p.(His1169=) NC_000020.11:45950049:G:A p.(His1169=) NC_000020.11:45950049:G:A Identity +NM_001281302.2:c.1284G>A NP_001268231.1:p.Gln428= NC_000005.10:74738533:C:T p.(Gln428=) NC_000005.10:74738533:C:T p.(Gln428=) NC_000005.10:74738533:C:T Identity +NM_015384.5:c.2451C>T NP_056199.2:p.Asp817= NC_000005.10:36985630:C:T p.(Asp817=) NC_000005.10:36985630:C:T p.(Asp817=) NC_000005.10:36985630:C:T Identity +NM_001145853.1:c.2555_2560dup NP_001139325.1:p.Gln853_Leu854insProGln NC_000004.12:6302349:CCCAGC:CCCAGCCCCAGC p.(Gln853_Leu854insProGln) NC_000004.12:6302349:CCCAGC:CCCAGCCCCAGC p.(Gln853_Leu854insProGln) ERR:SPDI Identity +NM_001363671.2:c.210C>T NP_001350600.1:p.Gly70= NC_000007.14:100102715:C:T p.(Gly70=) NC_000007.14:100102715:C:T p.(Gly70=) NC_000007.14:100102715:C:T Identity +NM_006516.4:c.1023C>G NP_006507.2:p.Leu341= NC_000001.11:42928982:G:C p.(Leu341=) NC_000001.11:42928982:G:C p.(Leu341=) NC_000001.11:42928982:G:C Identity +NM_001035505.2:c.45G>T NP_001030582.1:p.Gly15= NC_000002.12:74147829:C:A p.(Gly15=) NC_000002.12:74147829:C:A p.(Gly15=) NC_000002.12:74147829:C:A Identity +NM_001145853.1:c.510C>G NP_001139325.1:p.Thr170= NC_000004.12:6291245:C:G p.(Thr170=) NC_000004.12:6291245:C:G p.(Thr170=) NC_000004.12:6291245:C:G Identity +NM_000720.4:c.6000G>C NP_000711.1:p.Ser2000= NC_000003.12:53810045:G:C p.(Ser2000=) NC_000003.12:53810045:G:C p.(Ser2000=) NC_000003.12:53810045:G:C Identity +NM_022114.4:c.1977G>A NP_071397.3:p.Pro659= NC_000001.11:3412173:G:A p.(Pro659=) NC_000001.11:3412173:G:A p.(Pro659=) NC_000001.11:3412173:G:A Identity +NM_000441.2:c.2007C>T NP_000432.1:p.Asp669= NC_000007.14:107702029:C:T p.(Asp669=) NC_000007.14:107702029:C:T p.(Asp669=) NC_000007.14:107702029:C:T Identity +NM_000251.3:c.2536_2541del NP_000242.1:p.Gln846_Lys847del NC_000002.12:47480769:AAACAGAAA:AAA p.(Gln846_Lys847del) NC_000002.12:47480769:AAACAGAAA:AAA p.(Gln846_Lys847del) NC_000002.12:47480772:CAGAAA: Identity +LRG_1253t1:c.1476C>T LRG_1253p1:p.Pro492= NC_000020.11:62836260:C:T ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found +NM_001145847.2:c.15C>T NP_001139319.1:p.Leu5= NC_000004.12:16075891:G:A p.(Leu5=) NC_000004.12:16075891:G:A p.(Leu5=) NC_000004.12:16075891:G:A Identity +NM_016941.4:c.1152G>A NP_058637.1:p.Ala384= NC_000019.10:39507096:G:A p.(Ala384=) NC_000019.10:39507096:G:A p.(Ala384=) NC_000019.10:39507096:G:A Identity +NM_001379277.1:c.3333G>A NP_001366206.1:p.Gln1111= NC_000007.14:92084680:G:A p.(Gln1111=) NC_000007.14:92084680:G:A p.(Gln1111=) NC_000007.14:92084680:G:A Identity +NM_000478.6:c.1329G>A NP_000469.3:p.Ala443= NC_000001.11:21577401:G:A p.(Ala443=) NC_000001.11:21577401:G:A p.(Ala443=) NC_000001.11:21577401:G:A Identity +NM_001270399.2:c.390G>C NP_001257328.1:p.Thr130= NC_000012.12:49185975:C:G p.(Thr130=) NC_000012.12:49185975:C:G p.(Thr130=) NC_000012.12:49185975:C:G Identity +NM_000424.4:c.1554C>A NP_000415.2:p.Gly518= NC_000012.12:52515160:G:T p.(Gly518=) NC_000012.12:52515160:G:T p.(Gly518=) NC_000012.12:52515160:G:T Identity +NM_000424.4:c.1194C>T NP_000415.2:p.Ala398= NC_000012.12:52517130:G:A p.(Ala398=) NC_000012.12:52517130:G:A p.(Ala398=) NC_000012.12:52517130:G:A Identity +NM_001846.4:c.4731C>T NP_001837.2:p.Pro1577= NC_000013.11:110508070:C:T p.(Pro1577=) NC_000013.11:110508070:C:T p.(Pro1577=) NC_000013.11:110508070:C:T Identity +NM_001193465.2:c.1491A>G NP_001180394.1:p.Pro497= NC_000017.11:46082482:T:C p.(Pro497=) NC_000017.11:46082482:T:C p.(Pro497=) NC_000017.11:46082482:T:C Identity +NM_001256213.2:c.2340C>T NP_001243142.1:p.Thr780= NC_000019.10:41970498:G:A p.(Thr780=) NC_000019.10:41970498:G:A p.(Thr780=) NC_000019.10:41970498:G:A Identity +LRG_1253t1:c.1458C>T LRG_1253p1:p.Ser486= NC_000020.11:62836242:C:T ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found +NM_001145853.1:c.2157C>T NP_001139325.1:p.Ala719= NC_000004.12:6301951:C:T p.(Ala719=) NC_000004.12:6301951:C:T p.(Ala719=) NC_000004.12:6301951:C:T Identity +NM_025074.7:c.7074C>T NP_079350.5:p.Gly2358= NC_000004.12:78466251:C:T p.(Gly2358=) NC_000004.12:78466251:C:T p.(Gly2358=) NC_000004.12:78466251:C:T Identity +NM_138694.4:c.2463C>G NP_619639.3:p.Ala821= NC_000006.12:52046132:G:C p.(Ala821=) NC_000006.12:52046132:G:C p.(Ala821=) NC_000006.12:52046132:G:C Identity +NM_001354263.2:c.2643C>T NP_001341192.1:p.Leu881= NC_000009.12:137800935:C:T p.(Leu881=) NC_000009.12:137800935:C:T p.(Leu881=) NC_000009.12:137800935:C:T Identity +NM_000350.3:c.618C>T NP_000341.2:p.Ser206= NC_000001.11:94098943:G:A p.(Ser206=) NC_000001.11:94098943:G:A p.(Ser206=) NC_000001.11:94098943:G:A Identity +NM_001130442.3:c.150G>A NP_001123914.1:p.Thr50= NC_000011.10:533905:C:T p.(Thr50=) NC_000011.10:533905:C:T p.(Thr50=) NC_000011.10:533905:C:T Identity +NM_005477.3:c.3531G>T NP_005468.1:p.Gly1177= NC_000015.10:73322561:C:A p.(Gly1177=) NC_000015.10:73322561:C:A p.(Gly1177=) NC_000015.10:73322561:C:A Identity +NM_005120.3:c.3516C>G NP_005111.2:p.Thr1172= NC_000023.11:71129153:C:G p.(Thr1172=) NC_000023.11:71129153:C:G p.(Thr1172=) NC_000023.11:71129153:C:G Identity +NM_001165962.2:c.1359G>A NP_001159434.1:p.Pro453= NC_000017.11:12998452:C:T p.(Pro453=) NC_000017.11:12998452:C:T p.(Pro453=) NC_000017.11:12998452:C:T Identity +NM_000540.3:c.12984G>A NP_000531.2:p.Ala4328= NC_000019.10:38565317:G:A p.(Ala4328=) NC_000019.10:38565317:G:A p.(Ala4328=) NC_000019.10:38565317:G:A Identity +NM_001134363.3:c.2358C>T NP_001127835.2:p.Asp786= NC_000010.11:110812754:C:T p.(Asp786=) NC_000010.11:110812754:C:T p.(Asp786=) NC_000010.11:110812754:C:T Identity +NM_001079821.3:c.618G>A NP_001073289.2:p.Leu206= NC_000001.11:247424066:G:A p.(Leu206=) NC_000001.11:247424066:G:A p.(Leu206=) NC_000001.11:247424066:G:A Identity +NM_001376.5:c.2463G>A NP_001367.2:p.Ala821= NC_000014.9:101986687:G:A p.(Ala821=) NC_000014.9:101986687:G:A p.(Ala821=) NC_000014.9:101986687:G:A Identity +NM_000059.4:c.9249A>G NP_000050.3:p.Lys3083= NC_000013.11:32380137:A:G p.(Lys3083=) NC_000013.11:32380137:A:G p.(Lys3083=) NC_000013.11:32380137:A:G Identity +NM_144670.6:c.297G>A NP_653271.3:p.Ser99= NC_000012.12:8823769:G:A p.(Ser99=) NC_000012.12:8823769:G:A p.(Ser99=) NC_000012.12:8823769:G:A Identity +NM_000059.4:c.8194T>C NP_000050.3:p.Leu2732= NC_000013.11:32363395:T:C p.(Leu2732=) NC_000013.11:32363395:T:C p.(Leu2732=) NC_000013.11:32363395:T:C Identity +NM_024642.5:c.675C>T NP_078918.3:p.Thr225= NC_000009.12:98826884:C:T p.(Thr225=) NC_000009.12:98826884:C:T p.(Thr225=) NC_000009.12:98826884:C:T Identity +NM_001322009.2:c.1128G>C NP_001308938.1:p.Thr376= NC_000007.14:5987231:C:G p.(Thr376=) NC_000007.14:5987231:C:G p.(Thr376=) NC_000007.14:5987231:C:G Identity +NM_001042544.1:c.1556_1567del NP_001036009.1:p.Asp519_Pro522del NC_000019.10:40608521:CCCCGGCCCGATCCCCGGCCCG:CCCCGGCCCG p.(Asp519_Pro522del) NC_000019.10:40608521:CCCCGGCCCGATCCCCGGCCCG:CCCCGGCCCG p.(Asp519_Pro522del) NC_000019.10:40608531:ATCCCCGGCCCG: Identity +NM_001376.5:c.11139A>G NP_001367.2:p.Leu3713= NC_000014.9:102038780:A:G p.(Leu3713=) NC_000014.9:102038780:A:G p.(Leu3713=) NC_000014.9:102038780:A:G Identity +NM_005634.3:c.717_737del NP_005625.2:p.Ala242_Ala248del NC_000023.11:140504323:GCGGCTGCGGCCGCGGCAGCGGCGGC:GCGGC p.(Ala242_Ala248del) NC_000023.11:140504323:GCGGCTGCGGCCGCGGCAGCGGCGGC:GCGGC p.(Ala242_Ala248del) NC_000023.11:140504323:GCGGCTGCGGCCGCGGCAGCG: Identity +NM_001278716.2:c.744T>C NP_001265645.1:p.Asp248= NC_000006.12:98917487:A:G p.(Asp248=) NC_000006.12:98917487:A:G p.(Asp248=) NC_000006.12:98917487:A:G Identity +NM_001278716.2:c.1699T>C NP_001265645.1:p.Leu567= NC_000006.12:98875417:A:G p.(Leu567=) NC_000006.12:98875417:A:G p.(Leu567=) NC_000006.12:98875417:A:G Identity +NM_001040113.2:c.444C>T NP_001035202.1:p.His148= NC_000016.10:15823312:G:A p.(His148=) NC_000016.10:15823312:G:A p.(His148=) NC_000016.10:15823312:G:A Identity +NM_001379500.1:c.1791TGGGCCCCC[1] NP_001366429.1:p.594PGP[3] NC_000021.9:45486944:CCCCCTGGGCCCCCTGGGCCCCC:CCCCCTGGGCCCCC p.(Pro603_Pro605del) NC_000021.9:45486949:T:TGGGCCCCC ERR:Parse ERR:Parse Analogous +LRG_533t1:c.600_629dup LRG_533p1:p.197_198AP[15] NC_000011.10:2884860:GGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCG:GGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCG ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_001287424.2:c.315G>A NP_001274353.1:p.Pro105= NC_000019.10:33302204:C:T p.(Pro105=) NC_000019.10:33302204:C:T p.(Pro105=) NC_000019.10:33302204:C:T Identity +NM_005120.3:c.4806G>T NP_005111.2:p.Ser1602= NC_000023.11:71134790:G:T p.(Ser1602=) NC_000023.11:71134790:G:T p.(Ser1602=) NC_000023.11:71134790:G:T Identity +NM_001039885.3:c.516C>T NP_001034974.1:p.Asn172= NC_000019.10:46755965:C:T p.(Asn172=) NC_000019.10:46755965:C:T p.(Asn172=) NC_000019.10:46755965:C:T Identity +NM_001384466.1:c.1632C>T NP_001371395.1:p.Asn544= NC_000011.10:64117898:C:T p.(Asn544=) NC_000011.10:64117898:C:T p.(Asn544=) NC_000011.10:64117898:C:T Identity +NM_001036.6:c.7632G>T NP_001027.3:p.Gly2544= NC_000015.10:33738565:G:T p.(Gly2544=) NC_000015.10:33738565:G:T p.(Gly2544=) NC_000015.10:33738565:G:T Identity +NM_001036.6:c.78C>A NP_001027.3:p.Ile26= NC_000015.10:33473444:C:A p.(Ile26=) NC_000015.10:33473444:C:A p.(Ile26=) NC_000015.10:33473444:C:A Identity +NM_001281463.1:c.3597C>T NP_001268392.1:p.Thr1199= NC_000023.11:53380141:G:A p.(Thr1199=) NC_000023.11:53380141:G:A p.(Thr1199=) NC_000023.11:53380141:G:A Identity +NM_001324240.2:c.129G>T NP_001311169.1:p.Pro43= NC_000020.11:3213322:G:T p.(Pro43=) NC_000020.11:3213322:G:T p.(Pro43=) NC_000020.11:3213322:G:T Identity +NM_000544.3:c.222C>A NP_000535.3:p.Pro74= NC_000006.12:32838011:G:T p.(Pro74=) NT_167244.2:4142877:G:T p.(Pro74=) NC_000006.12:4142877:A:T Identity +NM_001007188.4:c.1416A>G NP_001007189.1:p.Pro472= NC_000022.11:31810611:A:G p.(Pro472=) NC_000022.11:31810611:A:G p.(Pro472=) NC_000022.11:31810611:A:G Identity +NM_000548.5:c.4296C>G NP_000539.2:p.Ala1432= NC_000016.10:2084517:C:G p.(Ala1432=) NC_000016.10:2084517:C:G p.(Ala1432=) NC_000016.10:2084517:C:G Identity +NM_001276289.2:c.360A>G NP_001263218.1:p.Lys120= NC_000017.11:68523735:A:G p.(Lys120=) NC_000017.11:68523735:A:G p.(Lys120=) NC_000017.11:68523735:A:G Identity +NM_001172509.2:c.825A>G NP_001165980.1:p.Gln275= NC_000002.12:199349048:T:C p.(Gln275=) NC_000002.12:199349048:T:C p.(Gln275=) NC_000002.12:199349048:T:C Identity +NM_000038.6:c.7914T>G NP_000029.2:p.Ala2638= NC_000005.10:112843507:T:G p.(Ala2638=) NC_000005.10:112843507:T:G p.(Ala2638=) NC_000005.10:112843507:T:G Identity +NM_001128844.3:c.2364G>A NP_001122316.1:p.Gln788= NC_000019.10:11013037:G:A p.(Gln788=) NC_000019.10:11013037:G:A p.(Gln788=) NC_000019.10:11013037:G:A Identity +NM_015180.6:c.16410C>G NP_055995.4:p.Gly5470= NC_000014.9:64163511:C:G p.(Gly5470=) NC_000014.9:64163511:C:G p.(Gly5470=) NC_000014.9:64163511:C:G Identity +NM_001363671.2:c.474C>T NP_001350600.1:p.Ser158= NC_000007.14:100103509:C:T p.(Ser158=) NC_000007.14:100103509:C:T p.(Ser158=) NC_000007.14:100103509:C:T Identity +NM_001321309.2:c.5007T>C NP_001308238.1:p.Asp1669= NC_000003.12:123614314:A:G p.(Asp1669=) NC_000003.12:123614314:A:G p.(Asp1669=) NC_000003.12:123614314:A:G Identity +NM_001014431.2:c.693C>T NP_001014431.1:p.Asn231= NC_000014.9:104773920:G:A p.(Asn231=) NC_000014.9:104773920:G:A p.(Asn231=) NC_000014.9:104773920:G:A Identity +NM_001008537.3:c.2373A>C NP_001008537.1:p.Thr791= NC_000023.11:74742183:T:G p.(Thr791=) NC_000023.11:74742183:T:G p.(Thr791=) NC_000023.11:74742183:T:G Identity +NM_022114.4:c.1440C>T NP_071397.3:p.His480= NC_000001.11:3411636:C:T p.(His480=) NC_000001.11:3411636:C:T p.(His480=) NC_000001.11:3411636:C:T Identity +NM_006462.6:c.54C>T NP_006453.1:p.Ser18= NC_000020.11:417537:C:T p.(Ser18=) NC_000020.11:417537:C:T p.(Ser18=) NC_000020.11:417537:C:T Identity +NM_004369.4:c.4110C>T NP_004360.2:p.Ala1370= NC_000002.12:237371906:G:A p.(Ala1370=) NC_000002.12:237371906:G:A p.(Ala1370=) NC_000002.12:237371906:G:A Identity +NM_000540.3:c.12897G>T NP_000531.2:p.Ala4299= NC_000019.10:38565230:G:T p.(Ala4299=) NC_000019.10:38565230:G:T p.(Ala4299=) NC_000019.10:38565230:G:T Identity +NM_001130916.3:c.52GCG[11] NP_001124388.1:p.Ala25_Ala26dup NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG p.(Ala25_Ala26dup) NC_000009.12:99105256:G:GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG ERR:Parse ERR:Parse Identity +NM_000218.3:c.675G>A NP_000209.2:p.Ser225= NC_000011.10:2571394:G:A p.(Ser225=) NC_000011.10:2571394:G:A p.(Ser225=) NC_000011.10:2571394:G:A Identity +NM_001105206.3:c.228G>A NP_001098676.2:p.Ser76= NC_000006.12:112216436:C:T p.(Ser76=) NC_000006.12:112216436:C:T p.(Ser76=) NC_000006.12:112216436:C:T Identity +NM_001368263.1:c.1938C>T NP_001355192.1:p.Asn646= NC_000003.12:45516169:C:T p.(Asn646=) NC_000003.12:45516169:C:T p.(Asn646=) NC_000003.12:45516169:C:T Identity +NM_001127493.3:c.5565C>T NP_001120965.1:p.Thr1855= NC_000004.12:113373436:C:T p.(Thr1855=) NC_000004.12:113373436:C:T p.(Thr1855=) NC_000004.12:113373436:C:T Identity +NM_001252127.2:c.2854C>T NP_001239056.1:p.Leu952= NC_000015.10:50999245:C:T p.(Leu952=) NC_000015.10:50999245:C:T p.(Leu952=) NC_000015.10:50999245:C:T Identity +NM_001256468.2:c.3516GGA[6] NP_001243397.1:p.Glu1185dup NC_000010.11:75028886:GAGGAGGAGGAGGAGGA:GAGGAGGAGGAGGAGGAGGA p.(Glu1185dup) NC_000010.11:75028888:G:GGAGGAGGAGGAGGAGGA ERR:Parse ERR:Parse Identity +NM_001003800.2:c.307C>T NP_001003800.1:p.Leu103= NC_000009.12:92729169:G:A p.(Leu103=) NC_000009.12:92729169:G:A p.(Leu103=) NC_000009.12:92729169:G:A Identity +NM_000720.4:c.2121C>T NP_000711.1:p.Thr707= NC_000003.12:53723959:C:T p.(Thr707=) NC_000003.12:53723959:C:T p.(Thr707=) NC_000003.12:53723959:C:T Identity +NM_001190709.2:c.5268C>T NP_001177638.1:p.Phe1756= NC_000001.11:102878054:G:A p.(Phe1756=) NC_000001.11:102878054:G:A p.(Phe1756=) NC_000001.11:102878054:G:A Identity +NM_001002019.3:c.981G>T NP_001002019.1:p.Pro327= NC_000012.12:131941811:G:T p.(Pro327=) NC_000012.12:131941811:G:T p.(Pro327=) NC_000012.12:131941811:G:T Identity +NM_000540.3:c.9921C>T NP_000531.2:p.Val3307= NC_000019.10:38517593:C:T p.(Val3307=) NC_000019.10:38517593:C:T p.(Val3307=) NC_000019.10:38517593:C:T Identity +NM_004975.4:c.1116C>G NP_004966.1:p.Thr372= NC_000020.11:49374443:G:C p.(Thr372=) NC_000020.11:49374443:G:C p.(Thr372=) NC_000020.11:49374443:G:C Identity +NM_001377273.1:c.2856C>T NP_001364202.1:p.Asp952= NC_000012.12:21848159:G:A p.(Asp952=) NC_000012.12:21848159:G:A p.(Asp952=) NC_000012.12:21848159:G:A Identity +NM_001271.4:c.2802A>G NP_001262.3:p.Val934= NC_000015.10:92979208:A:G p.(Val934=) NC_000015.10:92979208:A:G p.(Val934=) NC_000015.10:92979208:A:G Identity +NM_001256267.2:c.2229G>A NP_001243196.1:p.Pro743= NC_000010.11:68174320:G:A p.(Pro743=) NC_000010.11:68174320:G:A p.(Pro743=) NC_000010.11:68174320:G:A Identity +LRG_1122t1:c.6597C>T LRG_1122p1:p.Pro2199= NC_000009.12:136497141:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001148.6:c.5748A>G NP_001139.3:p.Val1916= NC_000004.12:113354365:A:G p.(Val1916=) NC_000004.12:113354365:A:G p.(Val1916=) NC_000004.12:113354365:A:G Identity +NM_001204798.2:c.81G>C NP_001191727.1:p.Val27= NC_000007.14:150955422:C:G p.(Val27=) NC_000007.14:150955422:C:G p.(Val27=) NC_000007.14:150955422:C:G Identity +NM_001324112.2:c.501C>T NP_001311041.1:p.Pro167= NC_000008.11:64616039:G:A p.(Pro167=) NC_000008.11:64616039:G:A p.(Pro167=) NC_000008.11:64616039:G:A Identity +NM_004104.5:c.4650G>A NP_004095.4:p.Ser1550= NC_000017.11:82084630:C:T p.(Ser1550=) NC_000017.11:82084630:C:T p.(Ser1550=) NC_000017.11:82084630:C:T Identity +NM_001330723.2:c.60CGG[6] NP_001317652.1:p.Gly24_Gly25dup NC_000001.11:151612258:GGCGGCGGCGGCGG:GGCGGCGGCGGCGGCGGCGG p.(Gly24_Gly25dup) NC_000001.11:151612260:C:CGGCGGCGGCGGCGGCGG ERR:Parse ERR:Parse Identity +NM_003482.4:c.8904G>A NP_003473.3:p.Pro2968= NC_000012.12:49038451:C:T p.(Pro2968=) NC_000012.12:49038451:C:T p.(Pro2968=) NC_000012.12:49038451:C:T Identity +NM_002838.5:c.3126C>T NP_002829.3:p.Thr1042= NC_000001.11:198750544:C:T p.(Thr1042=) NC_000001.11:198750544:C:T p.(Thr1042=) NC_000001.11:198750544:C:T Identity +NM_001040113.2:c.3321C>T NP_001035202.1:p.Asp1107= NC_000016.10:15735571:G:A p.(Asp1107=) NC_000016.10:15735571:G:A p.(Asp1107=) NC_000016.10:15735571:G:A Identity +NM_001007188.4:c.633C>T NP_001007189.1:p.Asn211= NC_000022.11:31792040:C:T p.(Asn211=) NC_000022.11:31792040:C:T p.(Asn211=) NC_000022.11:31792040:C:T Identity +NM_000548.5:c.2358_2359del p.Glu787Aspfs NC_000016.10:2074198:GCGCG:GCG p.(Glu787AspfsTer30) NC_000016.10:2074198:GCGCG:GCG p.(Glu787AspfsTer30) NC_000016.10:2074201:CG: "ERR:Parse error: --> 1:1 + | +1 | p.Glu787Aspfs + | ^--- + | + = expected hgvs_variant" +NM_000548.5:c.135G>T NP_000539.2:p.Leu45= NC_000016.10:2048749:G:T p.(Leu45=) NC_000016.10:2048749:G:T p.(Leu45=) NC_000016.10:2048749:G:T Identity +NM_001276289.2:c.528G>A NP_001263218.1:p.Val176= NC_000017.11:68524936:G:A p.(Val176=) NC_000017.11:68524936:G:A p.(Val176=) NC_000017.11:68524936:G:A Identity +NM_001130066.2:c.198C>G NP_001123538.1:p.Pro66= NC_000006.12:33425805:C:G p.(Pro66=) NC_000006.12:33425805:C:G p.(Pro66=) NC_000006.12:33425805:C:G Identity +NM_001256849.1:c.338_370del NP_001243778.1:p.Gly113_Pro123del NC_000019.10:50401791:GTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTG:GTGCCTG p.(Gly113_Pro123del) NC_000019.10:50401791:GTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTG:GTGCCTG p.(Gly113_Pro123del) NC_000019.10:50401798:GGGGGCCCCCACCATCCCGCGGCTCCGTGCCTG: Identity +NM_015180.6:c.8931T>C NP_055995.4:p.Val2977= NC_000014.9:64052843:T:C p.(Val2977=) NC_000014.9:64052843:T:C p.(Val2977=) NC_000014.9:64052843:T:C Identity +NM_015459.5:c.5_7delinsCTG NP_056274.3:p.Leu2_Ser3delinsSerAla NC_000011.10:63671328:ACA:CAG p.(Leu2_Ser3delinsSerAla) NC_000011.10:63671328:ACA:CAG p.(Leu2_Ser3delinsSerAla) NC_000011.10:63671328:ACA:CAG Identity +NM_052874.5:c.60G>T NP_443106.1:p.Val20= NC_000016.10:31001573:C:A p.(Val20=) NC_000016.10:31001573:C:A p.(Val20=) NC_000016.10:31001573:C:A Identity +NM_001352253.3:c.498C>G NP_001339182.1:p.Thr166= NC_000013.11:110687793:G:C p.(Thr166=) NC_000013.11:110687793:G:C p.(Thr166=) NC_000013.11:110687793:G:C Identity +NM_173354.5:c.924G>A NP_775490.2:p.Ala308= NC_000021.9:43420281:C:T p.(Ala308=) NC_000021.9:43420281:C:T p.(Ala308=) NC_000021.9:43420281:C:T Identity +NM_001077350.3:c.117A>G NP_001070818.1:p.Thr39= NC_000016.10:138150:T:C p.(Thr39=) NC_000016.10:138150:T:C p.(Thr39=) NC_000016.10:138150:T:C Identity +NM_001195573.1:c.861T>C NP_001182502.1:p.Ser287= NC_000014.9:95126621:A:G p.(Ser287=) NC_000014.9:95126621:A:G p.(Ser287=) NC_000014.9:95126621:A:G Identity +NM_005654.6:c.92GCG[7] NP_005645.1:p.Gly36dup NC_000005.10:93585114:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCG p.(Gly36dup) NC_000005.10:93585114:G:GCGGCGGCGGCGGCGGCGGCG ERR:Parse ERR:Parse Identity +NM_001193311.2:c.1284G>C NP_001180240.2:p.Pro428= NC_000007.14:40860367:G:C p.(Pro428=) NC_000007.14:40860367:G:C p.(Pro428=) NC_000007.14:40860367:G:C Identity +NM_006231.4:c.720G>A NP_006222.2:p.Val240= NC_000012.12:132677577:C:T p.(Val240=) NC_000012.12:132677577:C:T p.(Val240=) NC_000012.12:132677577:C:T Identity +NM_000540.3:c.10626G>A NP_000531.2:p.Leu3542= NC_000019.10:38525501:G:A p.(Leu3542=) NC_000019.10:38525501:G:A p.(Leu3542=) NC_000019.10:38525501:G:A Identity +NM_001362843.2:c.1989C>T NP_001349772.1:p.Gly663= NC_000022.11:41141157:C:T p.(Gly663=) NC_000022.11:41141157:C:T p.(Gly663=) NC_000022.11:41141157:C:T Identity +NM_001111125.3:c.777G>A NP_001104595.1:p.Ala259= NC_000023.11:53256021:C:T p.(Ala259=) NC_000023.11:53256021:C:T p.(Ala259=) NC_000023.11:53256021:C:T Identity +NM_000531.6:c.270T>C NP_000522.3:p.Ser90= NC_000023.11:38369848:T:C p.(Ser90=) NC_000023.11:38369848:T:C p.(Ser90=) NC_000023.11:38369848:T:C Identity +NM_001079846.1:c.675G>A NP_001073315.1:p.Pro225= NC_000016.10:3850419:C:T p.(Pro225=) NC_000016.10:3850419:C:T p.(Pro225=) NC_000016.10:3850419:C:T Identity +NM_001135659.3:c.2934A>G NP_001129131.1:p.Leu978= NC_000002.12:50497397:T:C p.(Leu978=) NC_000002.12:50497397:T:C p.(Leu978=) NC_000002.12:50497397:T:C Identity +NM_001371656.1:c.1278_1289del NP_001358585.1:p.Ala430_Ala433del NC_000006.12:156778946:GCGGCGGCGGCCGCGGCGGCGGC:GCGGCGGCGGC p.(Ala430_Ala433del) NC_000006.12:156778946:GCGGCGGCGGCCGCGGCGGCGGC:GCGGCGGCGGC p.(Ala430_Ala433del) NC_000006.12:156778957:CGCGGCGGCGGC: Identity +NM_001145138.2:c.999C>T NP_001138610.1:p.Arg333= NC_000011.10:65655712:G:A p.(Arg333=) NC_000011.10:65655712:G:A p.(Arg333=) NC_000011.10:65655712:G:A Identity +NM_001407240.1:c.1536C>A NP_001394169.1:p.Ala512= NC_000001.11:55058556:C:A p.(Ala512=) NC_000001.11:55058556:C:A p.(Ala512=) NC_000001.11:55058556:C:A Identity +NM_000249.4:c.195_200del NP_000240.1:p.Thr66_Gly67del NC_000003.12:36996694:GGCACCGG:GG p.(Thr66_Gly67del) NC_000003.12:36996694:GGCACCGG:GG p.(Thr66_Gly67del) NC_000003.12:36996696:CACCGG: Identity +NM_001308632.1:c.759G>A NP_001295561.1:p.Arg253= NC_000019.10:50402453:G:A p.(Arg253=) NC_000019.10:50402453:G:A p.(Arg253=) NC_000019.10:50402453:G:A Identity +NM_000548.5:c.5361C>G NP_000539.2:p.Gly1787= NC_000016.10:2088546:C:G p.(Gly1787=) NC_000016.10:2088546:C:G p.(Gly1787=) NC_000016.10:2088546:C:G Identity +NM_001958.5:c.363C>T NP_001949.1:p.Gly121= NC_000020.11:63495062:G:A p.(Gly121=) NC_000020.11:63495062:G:A p.(Gly121=) NC_000020.11:63495062:G:A Identity +NM_001128844.3:c.696_731del NP_001122316.1:p.229GP[2] NC_000019.10:10986520:CCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC:CCCGGCCC p.(Gly233_Pro244del) NC_000019.10:10986520:CCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC:CCCGGCCC p.(Gly233_Pro244del) NC_000019.10:10986528:TGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC: Analogous +NM_001319140.2:c.576A>G NP_001306069.1:p.Ter192= NC_000001.11:33013180:T:C p.(Ter192=) NC_000001.11:33013180:T:C p.(Ter192Ter) NC_000001.11:33013180:T:C Identity +NM_001345962.2:c.568_581dup NP_001332891.1:p.Asn194delinsLysCysLeuTer NC_000004.12:83462790:TTTTTTAAAGACAT:TTTTTTAAAGACATTTTTTTAAAGACAT p.(Asn194LysfsTer4) NC_000004.12:83462790:TTTTTTAAAGACAT:TTTTTTAAAGACATTTTTTTAAAGACAT p.(Asn194LysfsTer4) ERR:SPDI Analogous +NM_001014797.3:c.30_56del NP_001014797.1:p.Ser11_Gly19del NC_000010.11:77637586:CCGCCGCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC p.(Ser11_Gly19del) NC_000010.11:77637586:CCGCCGCCGCCGCCGCCGCCGCTGCTGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC p.(Ser11_Gly19del) NC_000010.11:77637586:CCGCCGCCGCCGCCGCCGCCGCTGCTG: Identity +NM_001854.4:c.882A>G NP_001845.3:p.Thr294= NC_000001.11:103026230:T:C p.(Thr294=) NC_000001.11:103026230:T:C p.(Thr294=) NC_000001.11:103026230:T:C Identity +NM_001377289.1:c.1707C>A NP_001364218.1:p.Gly569= NC_000006.12:70232679:G:T p.(Gly569=) NC_000006.12:70232679:G:T p.(Gly569=) NC_000006.12:70232679:G:T Identity +NM_001033604.2:c.195C>T NP_001028776.1:p.Ala65= NC_000007.14:33152782:C:T p.(Ala65=) NC_000007.14:33152782:C:T p.(Ala65=) NC_000007.14:33152782:C:T Identity +NM_005257.6:c.1653G>A NP_005248.2:p.Glu551= NC_000018.10:22200687:G:A p.(Glu551=) NC_000018.10:22200687:G:A p.(Glu551=) NC_000018.10:22200687:G:A Identity +NM_000540.3:c.5487C>T NP_000531.2:p.Pro1829= NC_000019.10:38486141:C:T p.(Pro1829=) NC_000019.10:38486141:C:T p.(Pro1829=) NC_000019.10:38486141:C:T Identity +NM_001142294.2:c.1803C>T NP_001135766.1:p.Ala601= NC_000013.11:36304562:G:A p.(Ala601=) NC_000013.11:36304562:G:A p.(Ala601=) NC_000013.11:36304562:G:A Identity +NM_002890.3:c.414C>G NP_002881.1:p.Pro138= NC_000005.10:87268864:C:G p.(Pro138=) NC_000005.10:87268864:C:G p.(Pro138=) NC_000005.10:87268864:C:G Identity +NM_005477.3:c.3294G>A NP_005468.1:p.Ala1098= NC_000015.10:73322798:C:T p.(Ala1098=) NC_000015.10:73322798:C:T p.(Ala1098=) NC_000015.10:73322798:C:T Identity +NM_004958.4:c.807C>T NP_004949.1:p.Asn269= NC_000001.11:11253871:G:A p.(Asn269=) NC_000001.11:11253871:G:A p.(Asn269=) NC_000001.11:11253871:G:A Identity +NM_001256267.2:c.489C>T NP_001243196.1:p.Ser163= NC_000010.11:68121926:C:T p.(Ser163=) NC_000010.11:68121926:C:T p.(Ser163=) NC_000010.11:68121926:C:T Identity +NM_001081676.2:c.2103A>G NP_001075145.1:p.Lys701= NC_000002.12:165138019:T:C p.(Lys701=) NC_000002.12:165138019:T:C p.(Lys701=) NC_000002.12:165138019:T:C Identity +NM_001376.5:c.7050C>T NP_001367.2:p.Tyr2350= NC_000014.9:102015139:C:T p.(Tyr2350=) NC_000014.9:102015139:C:T p.(Tyr2350=) NC_000014.9:102015139:C:T Identity +NM_138694.4:c.12021C>G NP_619639.3:p.Leu4007= NC_000006.12:51619284:G:C p.(Leu4007=) NC_000006.12:51619284:G:C p.(Leu4007=) NC_000006.12:51619284:G:C Identity +NM_000527.5:c.1026C>T NP_000518.1:p.Asp342= NC_000019.10:11110736:C:T p.(Asp342=) NC_000019.10:11110736:C:T p.(Asp342=) NC_000019.10:11110736:C:T Identity +NM_001178129.2:c.216C>G NP_001171600.1:p.Thr72= NC_000007.14:83466541:G:C p.(Thr72=) NC_000007.14:83466541:G:C p.(Thr72=) NC_000007.14:83466541:G:C Identity +NM_024685.4:c.102G>T NP_078961.3:p.Arg34= NC_000012.12:76348256:C:A p.(Arg34=) NC_000012.12:76348256:C:A p.(Arg34=) NC_000012.12:76348256:C:A Identity +NM_001256944.2:c.1845G>C NP_001243873.1:p.Pro615= NC_000023.11:10220811:G:C p.(Pro615=) NC_000023.11:10220811:G:C p.(Pro615=) NC_000023.11:10220811:G:C Identity +NM_001190818.2:c.1161T>G NP_001177747.1:p.Thr387= NC_000001.11:52389242:A:C p.(Thr387=) NC_000001.11:52389242:A:C p.(Thr387=) NC_000001.11:52389242:A:C Identity +NM_001039885.3:c.654G>A NP_001034974.1:p.Val218= NC_000019.10:46756103:G:A p.(Val218=) NC_000019.10:46756103:G:A p.(Val218=) NC_000019.10:46756103:G:A Identity +NM_002470.4:c.5415G>C NP_002461.2:p.Ala1805= NC_000017.11:10630329:C:G p.(Ala1805=) NC_000017.11:10630329:C:G p.(Ala1805=) NC_000017.11:10630329:C:G Identity +NM_000346.4:c.1137G>A NP_000337.1:p.Ala379= NC_000017.11:72123993:G:A p.(Ala379=) NC_000017.11:72123993:G:A p.(Ala379=) NC_000017.11:72123993:G:A Identity +NM_001318918.2:c.588C>T NP_001305847.1:p.Pro196= NC_000016.10:4335124:C:T p.(Pro196=) NC_000016.10:4335124:C:T p.(Pro196=) NC_000016.10:4335124:C:T Identity +NM_001002841.2:c.201G>A NP_001002841.1:p.Pro67= NC_000017.11:47219940:G:A p.(Pro67=) NC_000017.11:47219940:G:A p.(Pro67=) NC_000017.11:47219940:G:A Identity +NM_001387438.1:c.1029G>A NP_001374367.1:p.Ser343= NC_000019.10:18868686:C:T p.(Ser343=) NC_000019.10:18868686:C:T p.(Ser343=) NC_000019.10:18868686:C:T Identity +NM_001098175.2:c.1275C>T NP_001091645.1:p.Tyr425= NC_000010.11:95864788:C:T p.(Tyr425=) NC_000010.11:95864788:C:T p.(Tyr425=) NC_000010.11:95864788:C:T Identity +NM_005585.5:c.411G>A NP_005576.3:p.Ala137= NC_000015.10:66703668:G:A p.(Ala137=) NC_000015.10:66703668:G:A p.(Ala137=) NC_000015.10:66703668:G:A Identity +NM_005560.6:c.8622C>T NP_005551.3:p.Phe2874= NC_000020.11:62313684:G:A p.(Phe2874=) NC_000020.11:62313684:G:A p.(Phe2874=) NC_000020.11:62313684:G:A Identity +NM_005413.4:c.216C>T NP_005404.1:p.Ala72= NC_000002.12:44942319:C:T p.(Ala72=) NC_000002.12:44942319:C:T p.(Ala72=) NC_000002.12:44942319:C:T Identity +NM_001377289.1:c.378A>G NP_001364218.1:p.Ala126= NC_000006.12:70271690:T:C p.(Ala126=) NC_000006.12:70271690:T:C p.(Ala126=) NC_000006.12:70271690:T:C Identity +NM_032888.4:c.4831C>A NP_116277.2:p.Arg1611= NC_000009.12:114301702:C:A p.(Arg1611=) NC_000009.12:114301702:C:A p.(Arg1611=) NC_000009.12:114301702:C:A Identity +NM_000398.7:c.120C>T NP_000389.1:p.Asp40= NC_000022.11:42636747:G:A p.(Asp40=) NC_000022.11:42636747:G:A p.(Asp40=) NC_000022.11:42636747:G:A Identity +NM_004369.4:c.1356C>T NP_004360.2:p.Gly452= NC_000002.12:237381455:G:A p.(Gly452=) NC_000002.12:237381455:G:A p.(Gly452=) NC_000002.12:237381455:G:A Identity +NM_052844.4:c.693C>T NP_443076.2:p.Ser231= NC_000009.12:128636290:G:A p.(Ser231=) NC_000009.12:128636290:G:A p.(Ser231=) NC_000009.12:128636290:G:A Identity +NM_005618.4:c.2076G>A NP_005609.3:p.Pro692= NC_000006.12:170283077:C:T p.(Pro692=) NC_000006.12:170283077:C:T p.(Pro692=) NC_000006.12:170283077:C:T Identity +NM_001089.3:c.2241G>A NP_001080.2:p.Ser747= NC_000016.10:2297350:C:T p.(Ser747=) NC_000016.10:2297350:C:T p.(Ser747=) NC_000016.10:2297350:C:T Identity +NM_021076.4:c.1500_1505dup NP_066554.2:p.Thr501_Lys502dup NC_000022.11:29489138:AAACAAA:AAACAAAAACAAA p.(Thr501_Lys502dup) NC_000022.11:29489138:AAACAAA:AAACAAAAACAAA p.(Thr501_Lys502dup) ERR:SPDI Identity +NM_001040275.1:c.630C>T NP_001035365.1:p.Tyr210= NC_000014.9:64268816:G:A p.(Tyr210=) NC_000014.9:64268816:G:A p.(Tyr210=) NC_000014.9:64268816:G:A Identity +NM_006121.4:c.288TGGTGGCTTTGGTGG[2] NP_006112.3:p.99FGGGG[2] NC_000012.12:52680016:CCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCA:CCACCAAAGCCACCACCACCAAAGCCACCACCACCA p.(Phe109_Gly113del) NC_000012.12:52680060:A:CCACCAAAGCCACCACCACCAAAGCCACCA ERR:Parse ERR:Parse Analogous +NM_001139490.1:c.510C>T NP_001132962.1:p.Asp170= NC_000002.12:238328936:C:T p.(Asp170=) NC_000002.12:238328936:C:T p.(Asp170=) NC_000002.12:238328936:C:T Identity +NM_001270476.2:c.366G>A NP_001257405.1:p.Arg122= NC_000006.12:43008026:G:A p.(Arg122=) NC_000006.12:43008026:G:A p.(Arg122=) NC_000006.12:43008026:G:A Identity +NM_001174146.2:c.534C>A NP_001167617.1:p.Ser178= NC_000009.12:126691042:C:A p.(Ser178=) NC_000009.12:126691042:C:A p.(Ser178=) NC_000009.12:126691042:C:A Identity +NM_031935.3:c.6816G>A NP_114141.2:p.Ser2272= NC_000001.11:186053939:G:A p.(Ser2272=) NC_000001.11:186053939:G:A p.(Ser2272=) NC_000001.11:186053939:G:A Identity +NM_003737.4:c.8706G>A NP_003728.1:p.Val2902= NC_000011.10:6622969:C:T p.(Val2902=) NC_000011.10:6622969:C:T p.(Val2902=) NC_000011.10:6622969:C:T Identity +NM_001354263.2:c.2703T>A NP_001341192.1:p.Ile901= NC_000009.12:137811471:T:A p.(Ile901=) NC_000009.12:137811471:T:A p.(Ile901=) NC_000009.12:137811471:T:A Identity +NM_001038.6:c.339C>T NP_001029.1:p.Pro113= NC_000012.12:6374444:G:A p.(Pro113=) NC_000012.12:6374444:G:A p.(Pro113=) NC_000012.12:6374444:G:A Identity +NM_052844.4:c.1569A>G NP_443076.2:p.Glu523= NC_000009.12:128633785:T:C p.(Glu523=) NC_000009.12:128633785:T:C p.(Glu523=) NC_000009.12:128633785:T:C Identity +NM_006796.3:c.1554T>C NP_006787.2:p.Gly518= NC_000018.10:12348381:A:G p.(Gly518=) NC_000018.10:12348381:A:G p.(Gly518=) NC_000018.10:12348381:A:G Identity +NM_032806.6:c.123G>A NP_116195.2:p.Gln41= NC_000003.12:43081308:C:T p.(Gln41=) NC_000003.12:43081308:C:T p.(Gln41=) NC_000003.12:43081308:C:T Identity +NM_004423.4:c.1638_1652del NP_004414.3:p.Tyr547_Pro551del NC_000003.12:184170135:CCCGCACCCATACAACCCGCACCC:CCCGCACCC p.(Tyr547_Pro551del) NC_000003.12:184170135:CCCGCACCCATACAACCCGCACCC:CCCGCACCC p.(Tyr547_Pro551del) NC_000003.12:184170144:ATACAACCCGCACCC: Identity +NM_001244580.2:c.10989G>T NP_001231509.1:p.Thr3663= NC_000007.14:99011143:G:T p.(Thr3663=) NC_000007.14:99011143:G:T p.(Thr3663=) NC_000007.14:99011143:G:T Identity +NM_001142864.4:c.1683G>A NP_001136336.2:p.Thr561= NC_000016.10:88735039:C:T p.(Thr561=) NC_000016.10:88735039:C:T p.(Thr561=) NC_000016.10:88735039:C:T Identity +NM_020884.7:c.5472C>T NP_065935.4:p.Ala1824= NC_000020.11:35001154:C:T p.(Ala1824=) NC_000020.11:35001154:C:T p.(Ala1824=) NC_000020.11:35001154:C:T Identity +NM_000228.3:c.1845G>A NP_000219.2:p.Leu615= NC_000001.11:209625778:C:T p.(Leu615=) NC_000001.11:209625778:C:T p.(Leu615=) NC_000001.11:209625778:C:T Identity +NM_004092.4:c.345G>A NP_004083.3:p.Lys115= NC_000010.11:133369972:C:T p.(Lys115=) NC_000010.11:133369972:C:T p.(Lys115=) NC_000010.11:133369972:C:T Identity +NM_003235.5:c.6180C>T NP_003226.4:p.Phe2060= NC_000008.11:132972721:C:T p.(Phe2060=) NC_000008.11:132972721:C:T p.(Phe2060=) NC_000008.11:132972721:C:T Identity +NM_002470.4:c.5739C>T NP_002461.2:p.Ile1913= NC_000017.11:10629653:G:A p.(Ile1913=) NC_000017.11:10629653:G:A p.(Ile1913=) NC_000017.11:10629653:G:A Identity +NM_001301237.2:c.1020C>T NP_001288166.1:p.Gly340= NC_000001.11:41008831:C:T p.(Gly340=) NC_000001.11:41008831:C:T p.(Gly340=) NC_000001.11:41008831:C:T Identity +NM_000319.5:c.1845C>T NP_000310.2:p.Ala615= NC_000012.12:7210171:C:T p.(Ala615=) NC_000012.12:7210171:C:T p.(Ala615=) NC_000012.12:7210171:C:T Identity +NM_000435.3:c.2226G>A NP_000426.2:p.Pro742= NC_000019.10:15185326:C:T p.(Pro742=) NC_000019.10:15185326:C:T p.(Pro742=) NC_000019.10:15185326:C:T Identity +NM_001004356.3:c.1347G>A NP_001004356.1:p.Glu449= NC_000004.12:1025178:G:A p.(Glu449=) NC_000004.12:1025178:G:A p.(Glu449=) NC_000004.12:1025178:G:A Identity +NM_001365999.1:c.3726C>T NP_001352928.1:p.Tyr1242= NC_000001.11:43427656:C:T p.(Tyr1242=) NC_000001.11:43427656:C:T p.(Tyr1242=) NC_000001.11:43427656:C:T Identity +NM_001303245.3:c.78C>G NP_001290174.1:p.Ala26= NC_000003.12:141487160:C:G p.(Ala26=) NC_000003.12:141487160:C:G p.(Ala26=) NC_000003.12:141487160:C:G Identity +NM_003718.5:c.858C>T NP_003709.3:p.Ser286= NC_000007.14:39951498:C:T p.(Ser286=) NC_000007.14:39951498:C:T p.(Ser286=) NC_000007.14:39951498:C:T Identity +NM_001012614.2:c.1119C>A NP_001012632.1:p.Gly373= NC_000004.12:1212410:G:T p.(Gly373=) NC_000004.12:1212410:G:T p.(Gly373=) NC_000004.12:1212410:G:T Identity +NM_000350.3:c.5055C>T NP_000341.2:p.Cys1685= NC_000001.11:94019722:G:A p.(Cys1685=) NC_000001.11:94019722:G:A p.(Cys1685=) NC_000001.11:94019722:G:A Identity +NM_001351694.2:c.138C>T NP_001338623.1:p.Pro46= NC_000019.10:39415019:C:T p.(Pro46=) NC_000019.10:39415019:C:T p.(Pro46=) NC_000019.10:39415019:C:T Identity +NM_006245.4:c.198C>G NP_006236.1:p.Pro66= NC_000006.12:43006554:C:G p.(Pro66=) NC_000006.12:43006554:C:G p.(Pro66=) NC_000006.12:43006554:C:G Identity +NM_173354.5:c.1722G>A NP_775490.2:p.Ala574= NC_000021.9:43418281:C:T p.(Ala574=) NC_000021.9:43418281:C:T p.(Ala574=) NC_000021.9:43418281:C:T Identity +NM_006269.2:c.4062T>C NP_006260.1:p.Asp1354= NC_000008.11:54627943:T:C p.(Asp1354=) NC_000008.11:54627943:T:C p.(Asp1354=) NC_000008.11:54627943:T:C Identity +NM_000486.6:c.339C>T NP_000477.1:p.Arg113= NC_000012.12:49951168:C:T p.(Arg113=) NC_000012.12:49951168:C:T p.(Arg113=) NC_000012.12:49951168:C:T Identity +NM_001385678.1:c.162G>T NP_001372607.1:p.Ala54= NC_000019.10:4818173:C:A p.(Ala54=) NC_000019.10:4818173:C:A p.(Ala54=) NC_000019.10:4818173:C:A Identity +NM_020921.4:c.3150G>A NP_065972.4:p.Leu1050= NC_000014.9:50757879:C:T p.(Leu1050=) NC_000014.9:50757879:C:T p.(Leu1050=) NC_000014.9:50757879:C:T Identity +NM_001278196.2:c.1179C>T NP_001265125.1:p.Phe393= NC_000001.11:244054979:C:T p.(Phe393=) NC_000001.11:244054979:C:T p.(Phe393=) NC_000001.11:244054979:C:T Identity +NM_001351273.1:c.6204C>G NP_001338202.1:p.Gly2068= NC_000019.10:1469507:C:G p.(Gly2068=) NC_000019.10:1469507:C:G p.(Gly2068=) NC_000019.10:1469507:C:G Identity +NM_014334.4:c.771C>T NP_055149.3:p.Tyr257= NC_000009.12:109137565:G:A p.(Tyr257=) NC_000009.12:109137565:G:A p.(Tyr257=) NC_000009.12:109137565:G:A Identity +NM_014141.6:c.3465A>G NP_054860.1:p.Gly1155= NC_000007.14:148267115:A:G p.(Gly1155=) NC_000007.14:148267115:A:G p.(Gly1155=) NC_000007.14:148267115:A:G Identity +NM_005630.3:c.573G>A NP_005621.2:p.Gly191= NC_000003.12:133955017:C:T p.(Gly191=) NC_000003.12:133955017:C:T p.(Gly191=) NC_000003.12:133955017:C:T Identity +NM_001035507.3:c.1155C>T NP_001030584.1:p.Asn385= NC_000002.12:27055927:C:T p.(Asn385=) NC_000002.12:27055927:C:T p.(Asn385=) NC_000002.12:27055927:C:T Identity +NM_001018088.3:c.2856C>T NP_001018098.1:p.Asp952= NC_000015.10:61969353:G:A p.(Asp952=) NC_000015.10:61969353:G:A p.(Asp952=) NC_000015.10:61969353:G:A Identity +NM_031935.3:c.6246C>T NP_114141.2:p.Thr2082= NC_000001.11:186041077:C:T p.(Thr2082=) NC_000001.11:186041077:C:T p.(Thr2082=) NC_000001.11:186041077:C:T Identity +NM_000109.4:c.9186G>A NP_000100.3:p.Val3062= NC_000023.11:31323611:C:T p.(Val3062=) NC_000023.11:31323611:C:T p.(Val3062=) NC_000023.11:31323611:C:T Identity +NM_207361.6:c.7473A>G NP_997244.4:p.Glu2491= NC_000013.11:38859543:A:G p.(Glu2491=) NC_000013.11:38859543:A:G p.(Glu2491=) NC_000013.11:38859543:A:G Identity +NM_001079846.1:c.3459T>C NP_001073315.1:p.Pro1153= NC_000016.10:3757844:A:G p.(Pro1153=) NC_000016.10:3757844:A:G p.(Pro1153=) NC_000016.10:3757844:A:G Identity +NM_001321309.2:c.2361C>T NP_001308238.1:p.Ser787= NC_000003.12:123700578:G:A p.(Ser787=) NC_000003.12:123700578:G:A p.(Ser787=) NC_000003.12:123700578:G:A Identity +NM_000335.5:c.3751C>T NP_000326.2:p.Leu1251= NC_000003.12:38566494:G:A p.(Leu1251=) NC_000003.12:38566494:G:A p.(Leu1251=) NC_000003.12:38566494:G:A Identity +NM_003235.5:c.5571C>T NP_003226.4:p.Ser1857= NC_000008.11:132966581:C:T p.(Ser1857=) NC_000008.11:132966581:C:T p.(Ser1857=) NC_000008.11:132966581:C:T Identity +NM_001033053.3:c.2082G>A NP_001028225.1:p.Leu694= NC_000017.11:5558613:C:T p.(Leu694=) NC_000017.11:5558613:C:T p.(Leu694=) NC_000017.11:5558613:C:T Identity +NM_003730.6:c.366C>T NP_003721.2:p.Ala122= NC_000006.12:166938974:G:A p.(Ala122=) NC_000006.12:166938974:G:A p.(Ala122=) NC_000006.12:166938974:G:A Identity +NM_001099952.4:c.5133G>A NP_001093422.2:p.Ser1711= NC_000003.12:4733143:G:A p.(Ser1711=) NC_000003.12:4733143:G:A p.(Ser1711=) NC_000003.12:4733143:G:A Identity +NM_000918.4:c.1452C>T NP_000909.2:p.Leu484= NC_000017.11:81844086:G:A p.(Leu484=) NC_000017.11:81844086:G:A p.(Leu484=) NC_000017.11:81844086:G:A Identity +NM_001039885.3:c.75G>A NP_001034974.1:p.Ser25= NC_000019.10:46755524:G:A p.(Ser25=) NC_000019.10:46755524:G:A p.(Ser25=) NC_000019.10:46755524:G:A Identity +NM_001164317.2:c.6303C>T NP_001157789.1:p.Ile2101= NC_000003.12:58149967:C:T p.(Ile2101=) NC_000003.12:58149967:C:T p.(Ile2101=) NC_000003.12:58149967:C:T Identity +NM_001204.7:c.858T>C NP_001195.2:p.Ser286= NC_000002.12:202520091:T:C p.(Ser286=) NC_000002.12:202520091:T:C p.(Ser286=) NC_000002.12:202520091:T:C Identity +NM_001197181.2:c.777G>C NP_001184110.1:p.Leu259= NC_000016.10:89935443:G:C p.(Leu259=) NC_000016.10:89935443:G:C p.(Leu259=) NC_000016.10:89935443:G:C Identity +NM_001029882.3:c.3990G>A NP_001025053.1:p.Ser1330= NC_000001.11:27548125:C:T p.(Ser1330=) NC_000001.11:27548125:C:T p.(Ser1330=) NC_000001.11:27548125:C:T Identity +NM_015180.6:c.16857T>C NP_055995.4:p.Asp5619= NC_000014.9:64167590:T:C p.(Asp5619=) NC_000014.9:64167590:T:C p.(Asp5619=) NC_000014.9:64167590:T:C Identity +NM_001365999.1:c.1188A>C NP_001352928.1:p.Pro396= NC_000001.11:43420249:A:C p.(Pro396=) NC_000001.11:43420249:A:C p.(Pro396=) NC_000001.11:43420249:A:C Identity +NM_001351693.2:c.897C>T NP_001338622.1:p.Gly299= NC_000019.10:39418095:C:T p.(Gly299=) NC_000019.10:39418095:C:T p.(Gly299=) NC_000019.10:39418095:C:T Identity +NM_005094.4:c.702C>T NP_005085.2:p.Asp234= NC_000009.12:128348689:C:T p.(Asp234=) NC_000009.12:128348689:C:T p.(Asp234=) NC_000009.12:128348689:C:T Identity +NM_003924.4:c.36T>G NP_003915.2:p.Ser12= NC_000004.12:41748574:A:C p.(Ser12=) NC_000004.12:41748574:A:C p.(Ser12=) NC_000004.12:41748574:A:C Identity +NM_001287424.2:c.450C>T NP_001274353.1:p.Pro150= NC_000019.10:33302069:G:A p.(Pro150=) NC_000019.10:33302069:G:A p.(Pro150=) NC_000019.10:33302069:G:A Identity +NM_003105.6:c.4833C>T NP_003096.2:p.Asn1611= NC_000011.10:121605455:C:T p.(Asn1611=) NC_000011.10:121605455:C:T p.(Asn1611=) NC_000011.10:121605455:C:T Identity +NM_003235.5:c.366T>C NP_003226.4:p.Asp122= NC_000008.11:132871438:T:C p.(Asp122=) NC_000008.11:132871438:T:C p.(Asp122=) NC_000008.11:132871438:T:C Identity +NM_006876.3:c.1152C>T NP_006867.1:p.Pro384= NC_000011.10:66346144:G:A p.(Pro384=) NC_000011.10:66346144:G:A p.(Pro384=) NC_000011.10:66346144:G:A Identity +NM_002661.5:c.2397C>G NP_002652.2:p.Val799= NC_000016.10:81923573:C:G p.(Val799=) NC_000016.10:81923573:C:G p.(Val799=) NC_000016.10:81923573:C:G Identity +NM_003737.4:c.6255T>A NP_003728.1:p.Thr2085= NC_000011.10:6626660:A:T p.(Thr2085=) NC_000011.10:6626660:A:T p.(Thr2085=) NC_000011.10:6626660:A:T Identity +NM_001374839.1:c.721C>T NP_001361768.1:p.Leu241= NC_000008.11:144414407:G:A p.(Leu241=) NC_000008.11:144414407:G:A p.(Leu241=) NC_000008.11:144414407:G:A Identity +NM_005914.4:c.1884A>G NP_005905.2:p.Lys628= NC_000008.11:47971423:A:G p.(Lys628=) NC_000008.11:47971423:A:G p.(Lys628=) NC_000008.11:47971423:A:G Identity +NM_145046.5:c.195T>C NP_659483.2:p.Gly65= NC_000019.10:16490568:A:G p.(Gly65=) NC_000019.10:16490568:A:G p.(Gly65=) NC_000019.10:16490568:A:G Identity +NM_001289807.1:c.96G>T NP_001276736.1:p.Leu32= NC_000011.10:111911628:C:A p.(Leu32=) NC_000011.10:111911628:C:A p.(Leu32=) NC_000011.10:111911628:C:A Identity +NM_001145102.2:c.168C>A NP_001138574.1:p.Pro56= NC_000015.10:67165334:C:A p.(Pro56=) NC_000015.10:67165334:C:A p.(Pro56=) NC_000015.10:67165334:C:A Identity +NM_001114331.3:c.1536G>A NP_001107803.1:p.Thr512= NC_000016.10:1450505:C:T p.(Thr512=) NC_000016.10:1450505:C:T p.(Thr512=) NC_000016.10:1450505:C:T Identity +NM_001145860.2:c.27C>T NP_001139332.1:p.His9= NC_000008.11:98123363:C:T p.(His9=) NC_000008.11:98123363:C:T p.(His9=) NC_000008.11:98123363:C:T Identity +NM_000093.5:c.5295C>T NP_000084.3:p.Arg1765= NC_000009.12:134835128:C:T p.(Arg1765=) NC_000009.12:134835128:C:T p.(Arg1765=) NC_000009.12:134835128:C:T Identity +NM_000719.7:c.114G>A NP_000710.5:p.Leu38= NC_000012.12:2115287:G:A p.(Leu38=) NC_000012.12:2115287:G:A p.(Leu38=) NC_000012.12:2115287:G:A Identity +NM_017617.5:c.1959C>A NP_060087.3:p.Gly653= NC_000009.12:136515344:G:T p.(Gly653=) NC_000009.12:136515344:G:T p.(Gly653=) NC_000009.12:136515344:G:T Identity +NM_020699.4:c.1002G>A NP_065750.1:p.Ser334= NC_000001.11:153816486:C:T p.(Ser334=) NC_000001.11:153816486:C:T p.(Ser334=) NC_000001.11:153816486:C:T Identity +NM_000489.6:c.4443G>A NP_000480.3:p.Arg1481= NC_000023.11:77652227:C:T p.(Arg1481=) NC_000023.11:77652227:C:T p.(Arg1481=) NC_000023.11:77652227:C:T Identity +NM_001301738.2:c.174_175delinsTT NP_001288667.1:p.Leu58_Leu59= NC_000005.10:139481529:GC:AA p.(Leu58_Leu59=) NC_000005.10:139481529:GC:AA p.(Leu58=) NC_000005.10:139481529:GC:AA Identity +NM_000538.4:c.402G>C NP_000529.1:p.Gly134= NC_000013.11:36819758:G:C p.(Gly134=) NC_000013.11:36819758:G:C p.(Gly134=) NC_000013.11:36819758:G:C Identity +NM_001099922.3:c.2769A>C NP_001093392.1:p.Pro923= NC_000023.11:111744740:A:C p.(Pro923=) NC_000023.11:111744740:A:C p.(Pro923=) NC_000023.11:111744740:A:C Identity +NM_001308176.2:c.1233G>T NP_001295105.1:p.Gly411= NC_000018.10:27992672:C:A p.(Gly411=) NC_000018.10:27992672:C:A p.(Gly411=) NC_000018.10:27992672:C:A Identity +NM_001958.5:c.180G>C NP_001949.1:p.Leu60= NC_000020.11:63495999:C:G p.(Leu60=) NC_000020.11:63495999:C:G p.(Leu60=) NC_000020.11:63495999:C:G Identity +NM_001174150.2:c.1134T>A NP_001167621.1:p.Pro378= NC_000003.12:94049514:T:A p.(Pro378=) NC_000003.12:94049514:T:A p.(Pro378=) NC_000003.12:94049514:T:A Identity +NM_001330723.2:c.1299C>G NP_001317652.1:p.Ala433= NC_000001.11:151692493:C:G p.(Ala433=) NC_000001.11:151692493:C:G p.(Ala433=) NC_000001.11:151692493:C:G Identity +NM_001377273.1:c.4177C>T NP_001364202.1:p.Leu1393= NC_000012.12:21812082:G:A p.(Leu1393=) NC_000012.12:21812082:G:A p.(Leu1393=) NC_000012.12:21812082:G:A Identity +NM_001271620.2:c.2916G>A NP_001258549.1:p.Thr972= NC_000016.10:49636055:C:T p.(Thr972=) NC_000016.10:49636055:C:T p.(Thr972=) NC_000016.10:49636055:C:T Identity +NM_001197104.2:c.2841T>C NP_001184033.1:p.Ser947= NC_000011.10:118473999:T:C p.(Ser947=) NC_000011.10:118473999:T:C p.(Ser947=) NC_000011.10:118473999:T:C Identity +NM_001040113.2:c.1578C>T NP_001035202.1:p.Ile526= NC_000016.10:15757844:G:A p.(Ile526=) NC_000016.10:15757844:G:A p.(Ile526=) NC_000016.10:15757844:G:A Identity +NM_004104.5:c.4302C>T NP_004095.4:p.Asp1434= NC_000017.11:82085141:G:A p.(Asp1434=) NC_000017.11:82085141:G:A p.(Asp1434=) NC_000017.11:82085141:G:A Identity +NM_001130823.3:c.4816T>C NP_001124295.1:p.Leu1606= NC_000019.10:10134264:A:G p.(Leu1606=) NC_000019.10:10134264:A:G p.(Leu1606=) NC_000019.10:10134264:A:G Identity +NM_020361.5:c.1308T>C NP_065094.3:p.Cys436= NC_000008.11:67422509:A:G p.(Cys436=) NC_000008.11:67422509:A:G p.(Cys436=) NC_000008.11:67422509:A:G Identity +NM_024642.5:c.27C>T NP_078918.3:p.Arg9= NC_000009.12:98807724:C:T p.(Arg9=) NC_000009.12:98807724:C:T p.(Arg9=) NC_000009.12:98807724:C:T Identity +NM_025179.4:c.162C>T NP_079455.3:p.Thr54= NC_000001.11:208217760:G:A p.(Thr54=) NC_000001.11:208217760:G:A p.(Thr54=) NC_000001.11:208217760:G:A Identity +NM_000080.4:c.951C>T NP_000071.1:p.Leu317= NC_000017.11:4899548:G:A p.(Leu317=) NC_000017.11:4899548:G:A p.(Leu317=) NC_000017.11:4899548:G:A Identity +NM_001367759.1:c.996C>T NP_001354688.1:p.Ser332= NC_000006.12:121303700:G:A p.(Ser332=) NC_000006.12:121303700:G:A p.(Ser332=) NC_000006.12:121303700:G:A Identity +NM_000702.4:c.354C>T NP_000693.1:p.Ala118= NC_000001.11:160123388:C:T p.(Ala118=) NC_000001.11:160123388:C:T p.(Ala118=) NC_000001.11:160123388:C:T Identity +NM_001081640.2:c.7230G>A NP_001075109.1:p.Glu2410= NC_000008.11:47849203:C:T p.(Glu2410=) NC_000008.11:47849203:C:T p.(Glu2410=) NC_000008.11:47849203:C:T Identity +NM_001365999.1:c.6535C>A NP_001352928.1:p.Arg2179= NC_000001.11:43438724:C:A p.(Arg2179=) NC_000001.11:43438724:C:A p.(Arg2179=) NC_000001.11:43438724:C:A Identity +NM_001365819.1:c.3780G>T NP_001352748.1:p.Ser1260= NC_000022.11:50459303:C:A p.(Ser1260=) NC_000022.11:50459303:C:A p.(Ser1260=) NC_000022.11:50459303:C:A Identity +NM_001271620.2:c.1464A>G NP_001258549.1:p.Leu488= NC_000016.10:49637507:T:C p.(Leu488=) NC_000016.10:49637507:T:C p.(Leu488=) NC_000016.10:49637507:T:C Identity +NM_005188.4:c.954C>T NP_005179.2:p.Ile318= NC_000011.10:119276080:C:T p.(Ile318=) NC_000011.10:119276080:C:T p.(Ile318=) NC_000011.10:119276080:C:T Identity +NM_032193.4:c.391C>T NP_115569.2:p.Leu131= NC_000011.10:65720121:G:A p.(Leu131=) NC_000011.10:65720121:G:A p.(Leu131=) NC_000011.10:65720121:G:A Identity +NM_001280557.2:c.114C>T NP_001267486.1:p.His38= NC_000008.11:144413255:G:A p.(His38=) NC_000008.11:144413255:G:A p.(His38=) NC_000008.11:144413255:G:A Identity +NM_001029852.4:c.1056G>A NP_001025023.1:p.Gly352= NC_000005.10:77351102:G:A p.(Gly352=) NC_000005.10:77351102:G:A p.(Gly352=) NC_000005.10:77351102:G:A Identity +NM_000054.7:c.106C>T NP_000045.1:p.Leu36= NC_000023.11:153905611:C:T p.(Leu36=) NC_000023.11:153905611:C:T p.(Leu36=) NC_000023.11:153905611:C:T Identity +NM_002187.3:c.282C>A NP_002178.2:p.Gly94= NC_000005.10:159323135:G:T p.(Gly94=) NC_000005.10:159323135:G:T p.(Gly94=) NC_000005.10:159323135:G:T Identity +NM_001376.5:c.12639G>A NP_001367.2:p.Arg4213= NC_000014.9:102043999:G:A p.(Arg4213=) NC_000014.9:102043999:G:A p.(Arg4213=) NC_000014.9:102043999:G:A Identity +NM_000022.4:c.375C>G NP_000013.2:p.Thr125= NC_000020.11:44625671:G:C p.(Thr125=) NC_000020.11:44625671:G:C p.(Thr125=) NC_000020.11:44625671:G:C Identity +NM_001145853.1:c.2445C>G NP_001139325.1:p.Leu815= NC_000004.12:6302239:C:G p.(Leu815=) NC_000004.12:6302239:C:G p.(Leu815=) NC_000004.12:6302239:C:G Identity +NM_000459.5:c.1037= NP_000450.3:p.Gln346= NC_000009.12:27183464:A:A p.(Gln346=) NC_000009.12:27183464:A: p.(Gln346=) NC_000009.12:27183464:A:A Identity +NM_001036.6:c.1587C>T NP_001027.3:p.Arg529= NC_000015.10:33584407:C:T p.(Arg529=) NC_000015.10:33584407:C:T p.(Arg529=) NC_000015.10:33584407:C:T Identity +NM_006761.5:c.690A>G NP_006752.1:p.Leu230= NC_000017.11:1354235:T:C p.(Leu230=) NC_000017.11:1354235:T:C p.(Leu230=) NC_000017.11:1354235:T:C Identity +NM_001127231.3:c.2388C>T NP_001120703.1:p.Ser796= NC_000007.14:70787359:C:T p.(Ser796=) NC_000007.14:70787359:C:T p.(Ser796=) NC_000007.14:70787359:C:T Identity +NM_001304418.3:c.778C>T NP_001291347.1:p.Leu260= NC_000003.12:69119576:G:A p.(Leu260=) NC_000003.12:69119576:G:A p.(Leu260=) NC_000003.12:69119576:G:A Identity +NM_001345962.2:c.510T>C NP_001332891.1:p.Phe170= NC_000004.12:83462861:A:G p.(Phe170=) NC_000004.12:83462861:A:G p.(Phe170=) NC_000004.12:83462861:A:G Identity +NM_018706.7:c.1911= NP_061176.4:p.Pro637= NC_000010.11:12106259:A:A p.(Pro637=) NC_000010.11:12106259:A: p.(Pro637=) NC_000010.11:12106259:A:A Identity +NM_001165412.2:c.2457G>C NP_001158884.1:p.Leu819= NC_000004.12:102612473:G:C p.(Leu819=) NC_000004.12:102612473:G:C p.(Leu819=) NC_000004.12:102612473:G:C Identity +NM_000099.4:c.105= NP_000090.1:p.Leu35= NC_000020.11:23637757:T:T p.(Leu35=) NC_000020.11:23637757:T: p.(Leu35=) NC_000020.11:23637757:T:T Identity +NM_001136052.3:c.1935G>C NP_001129524.1:p.Ala645= NC_000019.10:49711909:G:C p.(Ala645=) NC_000019.10:49711909:G:C p.(Ala645=) NC_000019.10:49711909:G:C Identity +NM_006978.3:c.264A>G NP_008909.1:p.Glu88= NC_000023.11:119871349:T:C p.(Glu88=) NC_000023.11:119871349:T:C p.(Glu88=) NC_000023.11:119871349:T:C Identity +NM_000076.2:c.564_581del NP_000067.1:p.179_180AP[5] NC_000011.10:2884908:GGAGCCGGGGCCGGAGCCGGAGCCGG:GGAGCCGG p.(Ala189_Pro194del) NC_000011.10:2884908:GGAGCCGGGGCCGGAGCCGGAGCCGG:GGAGCCGG p.(Ala189_Pro194del) NC_000011.10:2884908:GGAGCCGGGGCCGGAGCC: Analogous +NM_000327.4:c.353= NP_000318.2:p.Gly118= NC_000011.10:62613633:G:G p.(Gly118=) NC_000011.10:62613633:G: p.(Gly118=) NC_000011.10:62613633:G:G Identity +NM_004429.5:c.597G>T NP_004420.1:p.Arg199= NC_000023.11:68840056:G:T p.(Arg199=) NC_000023.11:68840056:G:T p.(Arg199=) NC_000023.11:68840056:G:T Identity +NM_001112808.3:c.2091C>G NP_001106279.3:p.Leu697= NC_000001.11:74436094:C:G p.(Leu697=) NC_000001.11:74436094:C:G p.(Leu697=) NC_000001.11:74436094:C:G Identity +NM_030793.5:c.2283G>A NP_110420.3:p.Glu761= NC_000005.10:148427576:G:A p.(Glu761=) NC_000005.10:148427576:G:A p.(Glu761=) NC_000005.10:148427576:G:A Identity +NM_001130442.3:c.144G>A NP_001123914.1:p.Gly48= NC_000011.10:533911:C:T p.(Gly48=) NC_000011.10:533911:C:T p.(Gly48=) NC_000011.10:533911:C:T Identity +NM_001099223.3:c.1584A>T NP_001092693.1:p.Ala528= NC_000009.12:27056419:A:T p.(Ala528=) NC_000009.12:27056419:A:T p.(Ala528=) NC_000009.12:27056419:A:T Identity +NM_001042465.3:c.6C>T NP_001035930.1:p.Tyr2= NC_000010.11:71851215:G:A p.(Tyr2=) NC_000010.11:71851215:G:A p.(Tyr2=) NC_000010.11:71851215:G:A Identity +NM_003922.4:c.5340C>T NP_003913.3:p.Asn1780= NC_000015.10:63694451:G:A p.(Asn1780=) NC_000015.10:63694451:G:A p.(Asn1780=) NC_000015.10:63694451:G:A Identity +NM_001014797.3:c.1917C>T NP_001014797.1:p.Asn639= NC_000010.11:77027833:G:A p.(Asn639=) NC_000010.11:77027833:G:A p.(Asn639=) NC_000010.11:77027833:G:A Identity +NM_001261826.3:c.3408C>T NP_001248755.1:p.Val1136= NC_000019.10:2109149:G:A p.(Val1136=) NC_000019.10:2109149:G:A p.(Val1136=) NC_000019.10:2109149:G:A Identity +NM_001166133.2:c.3771C>A NP_001159605.1:p.Ile1257= NC_000004.12:78387496:C:A p.(Ile1257=) NC_000004.12:78387496:C:A p.(Ile1257=) NC_000004.12:78387496:C:A Identity +NM_181336.4:c.669C>G NP_851853.1:p.Leu223= NC_000006.12:33788447:G:C p.(Leu223=) NC_000006.12:33788447:G:C p.(Leu223=) NC_000006.12:33788447:G:C Identity +NM_003659.4:c.75G>A NP_003650.1:p.Arg25= NC_000002.12:177392863:G:A p.(Arg25=) NC_000002.12:177392863:G:A p.(Arg25=) NC_000002.12:177392863:G:A Identity +NM_001002019.3:c.366C>T NP_001002019.1:p.Ser122= NC_000012.12:131939180:C:T p.(Ser122=) NC_000012.12:131939180:C:T p.(Ser122=) NC_000012.12:131939180:C:T Identity +NM_000079.4:c.672C>T NP_000070.1:p.His224= NC_000002.12:174753608:G:A p.(His224=) NC_000002.12:174753608:G:A p.(His224=) NC_000002.12:174753608:G:A Identity +NM_001008388.5:c.48A>C NP_001008389.1:p.Ala16= NC_000004.12:102869131:A:C p.(Ala16=) NC_000004.12:102869131:A:C p.(Ala16=) NC_000004.12:102869131:A:C Identity +NM_001042465.3:c.816G>C NP_001035930.1:p.Gly272= NC_000010.11:71821977:C:G p.(Gly272=) NC_000010.11:71821977:C:G p.(Gly272=) NC_000010.11:71821977:C:G Identity +NM_000260.4:c.5196T>A NP_000251.3:p.Arg1732= NC_000011.10:77203086:T:A p.(Arg1732=) NC_000011.10:77203086:T:A p.(Arg1732=) NC_000011.10:77203086:T:A Identity +NM_000495.5:c.4740G>A NP_000486.1:p.Thr1580= NC_000023.11:108694857:G:A p.(Thr1580=) NC_000023.11:108694857:G:A p.(Thr1580=) NC_000023.11:108694857:G:A Identity +NM_004958.4:c.2709T>C NP_004949.1:p.Ile903= NC_000001.11:11230994:A:G p.(Ile903=) NC_000001.11:11230994:A:G p.(Ile903=) NC_000001.11:11230994:A:G Identity +NM_003105.6:c.2649C>T NP_003096.2:p.Leu883= NC_000011.10:121557390:C:T p.(Leu883=) NC_000011.10:121557390:C:T p.(Leu883=) NC_000011.10:121557390:C:T Identity +NM_000535.7:c.1452T>A NP_000526.2:p.Pro484= NC_000007.14:5987312:A:T p.(Pro484=) NC_000007.14:5987312:A:T p.(Pro484=) NC_000007.14:5987312:A:T Identity +NM_001692.4:c.84G>A NP_001683.2:p.Ala28= NC_000002.12:70936037:G:A p.(Ala28=) NC_000002.12:70936037:G:A p.(Ala28=) NC_000002.12:70936037:G:A Identity +NM_001374299.1:c.2080C>A NP_001361228.1:p.Arg694= NC_000009.12:92256736:G:T p.(Arg694=) NC_000009.12:92256736:G:T p.(Arg694=) NC_000009.12:92256736:G:T Identity +NM_000092.5:c.3351T>C NP_000083.3:p.Pro1117= NC_000002.12:227043122:A:G p.(Pro1117=) NC_000002.12:227043122:A:G p.(Pro1117=) NC_000002.12:227043122:A:G Identity +NM_001127671.2:c.1776C>T NP_001121143.1:p.His592= NC_000005.10:38496490:G:A p.(His592=) NC_000005.10:38496490:G:A p.(His592=) NC_000005.10:38496490:G:A Identity +NM_000124.4:c.3321T>A NP_000115.1:p.Leu1107= NC_000010.11:49470638:A:T p.(Leu1107=) NC_000010.11:49470638:A:T p.(Leu1107=) NC_000010.11:49470638:A:T Identity +NM_004946.3:c.4938C>T NP_004937.1:p.Ile1646= NC_000005.10:170077780:C:T p.(Ile1646=) NC_000005.10:170077780:C:T p.(Ile1646=) NC_000005.10:170077780:C:T Identity +NM_006662.3:c.9000G>A NP_006653.2:p.Thr3000= NC_000016.10:30739039:G:A p.(Thr3000=) NC_000016.10:30739039:G:A p.(Thr3000=) NC_000016.10:30739039:G:A Identity +NM_001844.5:c.2415A>G NP_001835.3:p.Glu805= NC_000012.12:47981390:T:C p.(Glu805=) NC_000012.12:47981390:T:C p.(Glu805=) NC_000012.12:47981390:T:C Identity +NM_021942.6:c.528G>C NP_068761.4:p.Pro176= NC_000004.12:183668084:G:C p.(Pro176=) NC_000004.12:183668084:G:C p.(Pro176=) NC_000004.12:183668084:G:C Identity +NM_001365819.1:c.4887C>G NP_001352748.1:p.Pro1629= NC_000022.11:50454592:G:C p.(Pro1629=) NC_000022.11:50454592:G:C p.(Pro1629=) NC_000022.11:50454592:G:C Identity +NM_000540.3:c.2895G>A NP_000531.2:p.Lys965= NC_000019.10:38466114:G:A p.(Lys965=) NC_000019.10:38466114:G:A p.(Lys965=) NC_000019.10:38466114:G:A Identity +NM_000252.3:c.1662G>A NP_000243.1:p.Glu554= NC_000023.11:150671444:G:A p.(Glu554=) NC_000023.11:150671444:G:A p.(Glu554=) NC_000023.11:150671444:G:A Identity +NM_005477.3:c.157C>T NP_005468.1:p.Leu53= NC_000015.10:73368113:G:A p.(Leu53=) NC_000015.10:73368113:G:A p.(Leu53=) NC_000015.10:73368113:G:A Identity +NM_138694.4:c.8580C>T NP_619639.3:p.Tyr2860= NC_000006.12:51772763:G:A p.(Tyr2860=) NC_000006.12:51772763:G:A p.(Tyr2860=) NC_000006.12:51772763:G:A Identity +NM_001135.4:c.570C>T NP_001126.3:p.Ala190= NC_000015.10:88840126:C:T p.(Ala190=) NC_000015.10:88840126:C:T p.(Ala190=) NC_000015.10:88840126:C:T Identity +NM_002506.3:c.417C>T NP_002497.2:p.Val139= NC_000001.11:115286378:G:A p.(Val139=) NC_000001.11:115286378:G:A p.(Val139=) NC_000001.11:115286378:G:A Identity +NM_000527.5:c.2208A>T NP_000518.1:p.Val736= NC_000019.10:11123240:A:T p.(Val736=) NC_000019.10:11123240:A:T p.(Val736=) NC_000019.10:11123240:A:T Identity +NM_001128844.3:c.2436C>T NP_001122316.1:p.Leu812= NC_000019.10:11013109:C:T p.(Leu812=) NC_000019.10:11013109:C:T p.(Leu812=) NC_000019.10:11013109:C:T Identity +NM_000124.4:c.2826G>A NP_000115.1:p.Thr942= NC_000010.11:49472911:C:T p.(Thr942=) NC_000010.11:49472911:C:T p.(Thr942=) NC_000010.11:49472911:C:T Identity +NM_001114331.3:c.810G>A NP_001107803.1:p.Ala270= NC_000016.10:1456146:C:T p.(Ala270=) NC_000016.10:1456146:C:T p.(Ala270=) NC_000016.10:1456146:C:T Identity +NM_019098.5:c.633T>C NP_061971.3:p.Asp211= NC_000008.11:86668028:A:G p.(Asp211=) NC_000008.11:86668028:A:G p.(Asp211=) NC_000008.11:86668028:A:G Identity +NM_000124.4:c.3495A>G NP_000115.1:p.Thr1165= NC_000010.11:49470464:T:C p.(Thr1165=) NC_000010.11:49470464:T:C p.(Thr1165=) NC_000010.11:49470464:T:C Identity +NM_001297649.2:c.144C>T NP_001284578.1:p.Ile48= NC_000011.10:2395417:C:T p.(Ile48=) NC_000011.10:2395417:C:T p.(Ile48=) NC_000011.10:2395417:C:T Identity +NM_004958.4:c.4197C>T NP_004949.1:p.Tyr1399= NC_000001.11:11199313:G:A p.(Tyr1399=) NC_000001.11:11199313:G:A p.(Tyr1399=) NC_000001.11:11199313:G:A Identity +NM_004560.4:c.1179G>T NP_004551.2:p.Ser393= NC_000009.12:91730913:C:A p.(Ser393=) NC_000009.12:91730913:C:A p.(Ser393=) NC_000009.12:91730913:C:A Identity +NM_002661.5:c.870C>T NP_002652.2:p.Phe290= NC_000016.10:81891473:C:T p.(Phe290=) NC_000016.10:81891473:C:T p.(Phe290=) NC_000016.10:81891473:C:T Identity +NM_001079.4:c.565C>T NP_001070.2:p.Leu189= NC_000002.12:97732883:C:T p.(Leu189=) NC_000002.12:97732883:C:T p.(Leu189=) NC_000002.12:97732883:C:T Identity +NM_004958.4:c.3004C>A NP_004949.1:p.Arg1002= NC_000001.11:11228693:G:T p.(Arg1002=) NC_000001.11:11228693:G:T p.(Arg1002=) NC_000001.11:11228693:G:T Identity +NM_003680.4:c.819C>T NP_003671.1:p.Ser273= NC_000001.11:32786940:G:A p.(Ser273=) NC_000001.11:32786940:G:A p.(Ser273=) NC_000001.11:32786940:G:A Identity +NM_198506.5:c.1629C>T NP_940908.3:p.Gly543= NC_000004.12:109870377:C:T p.(Gly543=) NC_000004.12:109870377:C:T p.(Gly543=) NC_000004.12:109870377:C:T Identity +NM_001145527.2:c.1590_1607dup NP_001138999.1:p.Glu531_Ala536dup NC_000009.12:137762762:AGAGATCACCACACTGGC:AGAGATCACCACACTGGCAGAGATCACCACACTGGC p.(Glu531_Ala536dup) NC_000009.12:137762762:AGAGATCACCACACTGGC:AGAGATCACCACACTGGCAGAGATCACCACACTGGC p.(Glu531_Ala536dup) ERR:SPDI Identity +NM_001136536.5:c.1629_1637del NP_001130008.2:p.Gln544_Ile546del NC_000004.12:36343598:CATTCAGCTCAT:CAT p.(Gln544_Ile546del) NC_000004.12:36343598:CATTCAGCTCAT:CAT p.(Gln544_Ile546del) NC_000004.12:36343601:TCAGCTCAT: Identity +NM_001077269.1:c.231C>T NP_001070737.1:p.Gly77= NC_000002.12:174575330:G:A p.(Gly77=) NC_000002.12:174575330:G:A p.(Gly77=) NC_000002.12:174575330:G:A Identity +NM_004519.4:c.99GGC[4] NP_004510.1:p.Ala36dup NC_000008.11:132480425:GCCGCCGCCGC:GCCGCCGCCGCCGC p.(Ala36dup) NC_000008.11:132480433:C:GCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_014003.4:c.425_427del NP_054722.2:p.His142_Gly143delinsArg NC_000016.10:72096922:ATG: p.(His142_Gly143delinsArg) NC_000016.10:72096922:ATG: p.(His142_Gly143delinsArg) NC_000016.10:72096922:ATG: Identity +NM_014467.3:c.99G>A NP_055282.1:p.Pro33= NC_000023.11:100650800:G:A p.(Pro33=) NC_000023.11:100650800:G:A p.(Pro33=) NC_000023.11:100650800:G:A Identity +NM_000429.3:c.1074C>T NP_000420.1:p.Gly358= NC_000010.11:80274530:G:A p.(Gly358=) NC_000010.11:80274530:G:A p.(Gly358=) NC_000010.11:80274530:G:A Identity +NM_015180.6:c.9618T>C NP_055995.4:p.Ile3206= NC_000014.9:64053530:T:C p.(Ile3206=) NC_000014.9:64053530:T:C p.(Ile3206=) NC_000014.9:64053530:T:C Identity +NM_000126.4:c.78T>C NP_000117.1:p.Ala26= NC_000015.10:76295698:A:G p.(Ala26=) NC_000015.10:76295698:A:G p.(Ala26=) NC_000015.10:76295698:A:G Identity +NM_001164317.2:c.798C>T NP_001157789.1:p.Pro266= NC_000003.12:58094845:C:T p.(Pro266=) NC_000003.12:58094845:C:T p.(Pro266=) NC_000003.12:58094845:C:T Identity +NM_001281463.1:c.2634C>T NP_001268392.1:p.Gly878= NC_000023.11:53396479:G:A p.(Gly878=) NC_000023.11:53396479:G:A p.(Gly878=) NC_000023.11:53396479:G:A Identity +NM_001376.5:c.8262C>T NP_001367.2:p.Ala2754= NC_000014.9:102018534:C:T p.(Ala2754=) NC_000014.9:102018534:C:T p.(Ala2754=) NC_000014.9:102018534:C:T Identity +NM_001376.5:c.13404G>T NP_001367.2:p.Thr4468= NC_000014.9:102049470:G:T p.(Thr4468=) NC_000014.9:102049470:G:T p.(Thr4468=) NC_000014.9:102049470:G:T Identity +NM_000335.5:c.399C>T NP_000326.2:p.Phe133= NC_000003.12:38622482:G:A p.(Phe133=) NC_000003.12:38622482:G:A p.(Phe133=) NC_000003.12:38622482:G:A Identity +NM_000238.4:c.87C>T NP_000229.1:p.Phe29= NC_000007.14:150974930:G:A p.(Phe29=) NC_000007.14:150974930:G:A p.(Phe29=) NC_000007.14:150974930:G:A Identity +NM_000218.3:c.576C>T NP_000209.2:p.Arg192= NC_000011.10:2570725:C:T p.(Arg192=) NC_000011.10:2570725:C:T p.(Arg192=) NC_000011.10:2570725:C:T Identity +NM_000218.3:c.1098G>A NP_000209.2:p.Arg366= NC_000011.10:2585276:G:A p.(Arg366=) NC_000011.10:2585276:G:A p.(Arg366=) NC_000011.10:2585276:G:A Identity +NM_001164097.2:c.2040_2048del NP_001157569.1:p.Ile682_Leu684del NC_000005.10:83538000:TACACTCATTAC:TAC p.(Ile682_Leu684del) NC_000005.10:83538000:TACACTCATTAC:TAC p.(Ile682_Leu684del) NC_000005.10:83538003:ACTCATTAC: Identity +NM_021620.4:c.1077CCA[6] NP_067633.2:p.His362_His363dup NC_000006.12:99613709:CACCACCACCACCA:CACCACCACCACCACCACCA p.(His362_His363dup) NC_000006.12:99613711:C:CCACCACCACCACCACCA ERR:Parse ERR:Parse Identity +NM_000538.4:c.108_125del NP_000529.1:p.Val37_Ser42del NC_000013.11:36819459:GCCTCGGTGGCGGCCGCGGCCTC:GCCTC p.(Val37_Ser42del) NC_000013.11:36819459:GCCTCGGTGGCGGCCGCGGCCTC:GCCTC p.(Val37_Ser42del) NC_000013.11:36819464:GGTGGCGGCCGCGGCCTC: Identity +NM_001014797.3:c.13GGC[8] NP_001014797.1:p.Gly9_Gly10dup NC_000010.11:77637612:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCCGCCGCCGCC p.(Gly9_Gly10dup) NC_000010.11:77637629:C:GCCGCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_001350671.1:c.145del NP_001337600.1:p.Trp48_Val49insTer NC_000007.14:92234578:CCC:CC p.(Val49Ter) NC_000007.14:92234578:CCC:CC p.(Val49Ter) NC_000007.14:92234578:C: Analogous +NM_014003.4:c.102C>T NP_054722.2:p.Ser34= NC_000016.10:72096258:C:T p.(Ser34=) NC_000016.10:72096258:C:T p.(Ser34=) NC_000016.10:72096258:C:T Identity +NM_001308093.3:c.543C>A NP_001295022.1:p.Ala181= NC_000008.11:11708854:C:A p.(Ala181=) NC_000008.11:11708854:C:A p.(Ala181=) NC_000008.11:11708854:C:A Identity +NM_001387439.1:c.219_220insGGCTGGACCGCGCTG NP_001374368.1:p.Leu73_Arg74insGlyTrpThrAlaLeu NC_000019.10:18895853:CAG:CAGCGCGGTCCAGCCCAG p.(Gly69_Leu73dup) NC_000019.10:18895852:G:CAGCGCGGTCCAGCC p.(Gly69_Leu73dup) NC_000019.10:18895853:GC:CAGCGCGGTCCAGCC Analogous +NM_004104.5:c.1464C>T NP_004095.4:p.Gly488= NC_000017.11:82091249:G:A p.(Gly488=) NC_000017.11:82091249:G:A p.(Gly488=) NC_000017.11:82091249:G:A Identity +NM_001365999.1:c.5217A>G NP_001352928.1:p.Gln1739= NC_000001.11:43431843:A:G p.(Gln1739=) NC_000001.11:43431843:A:G p.(Gln1739=) NC_000001.11:43431843:A:G Identity +NM_001287424.2:c.399_401dup NP_001274353.1:p.Gly139dup NC_000019.10:33302118:CCC:CCCCCC p.(Gly139dup) NC_000019.10:33302118:CCC:CCCCCC p.(Gly139dup) ERR:SPDI Identity +NM_000748.3:c.1080CCTGCG[3] NP_000739.1:p.361LR[3] NC_000001.11:154571899:GCGCCTGCGCCTGCG:GCGCCTGCGCCTGCGCCTGCG p.(Leu363_Arg364dup) NC_000001.11:154571902:C:CCTGCGCCTGCGCCTGCG ERR:Parse ERR:Parse Analogous +NM_001003800.2:c.1341C>T NP_001003800.1:p.Gly447= NC_000009.12:92719303:G:A p.(Gly447=) NC_000009.12:92719303:G:A p.(Gly447=) NC_000009.12:92719303:G:A Identity +NM_001130823.3:c.3432C>T NP_001124295.1:p.Ser1144= NC_000019.10:10140871:G:A p.(Ser1144=) NC_000019.10:10140871:G:A p.(Ser1144=) NC_000019.10:10140871:G:A Identity +NM_015180.6:c.1746A>G NP_055995.4:p.Gln582= NC_000014.9:63981082:A:G p.(Gln582=) NC_000014.9:63981082:A:G p.(Gln582=) NC_000014.9:63981082:A:G Identity +NM_001289807.1:c.201G>A NP_001276736.1:p.Glu67= NC_000011.10:111911523:C:T p.(Glu67=) NC_000011.10:111911523:C:T p.(Glu67=) NC_000011.10:111911523:C:T Identity +NM_172201.2:c.372A>G NP_751951.1:p.Ter124Trp NC_000021.9:34370849:A:G p.(Ter124TrpextTer1) NC_000021.9:34370849:A:G p.(Ter124TrpextTer1) NC_000021.9:34370849:A:G Analogous +NM_001365684.2:c.3507C>T NP_001352613.2:p.Gly1169= NC_000005.10:177246678:C:T p.(Gly1169=) NC_000005.10:177246678:C:T p.(Gly1169=) NC_000005.10:177246678:C:T Identity +NM_006939.4:c.3443_3454del NP_008870.2:p.Pro1148_Pro1151del NC_000014.9:50120309:GAGGAGGAAGAGGAGGAGGAA:GAGGAGGAA p.(Pro1148_Pro1151del) NC_000014.9:50120309:GAGGAGGAAGAGGAGGAGGAA:GAGGAGGAA p.(Pro1148_Pro1151del) NC_000014.9:50120309:GAGGAGGAAGAG: Identity +NM_005477.3:c.2878CCACCC[1] NP_005468.1:p.Pro962_Pro963del NC_000015.10:73323203:GGGTGGGGGTGG:GGGTGG p.(Pro962_Pro963del) NC_000015.10:73323214:G:GGGTGG ERR:Parse ERR:Parse Identity +NM_000444.6:c.1973_1984dup NP_000435.3:p.Arg658_Ile661dup NC_000023.11:22227512:AGGAAATGGATAA:AGGAAATGGATAAGGAAATGGATAA p.(Arg658_Ile661dup) NC_000023.11:22227512:AGGAAATGGATAA:AGGAAATGGATAAGGAAATGGATAA p.(Arg658_Ile661dup) ERR:SPDI Identity +NM_001079846.1:c.6510_6521del NP_001073315.1:p.Gln2175_Gln2178del NC_000016.10:3728411:TGTTGCTGCTGTTGTTGCTGCTG:TGTTGCTGCTG p.(Gln2175_Gln2178del) NC_000016.10:3728411:TGTTGCTGCTGTTGTTGCTGCTG:TGTTGCTGCTG p.(Gln2175_Gln2178del) NC_000016.10:3728411:TGTTGCTGCTGT: Identity +NM_001362843.2:c.6992_7018dup NP_001349772.1:p.Asn2331_Ala2339dup NC_000022.11:41178776:GCCAACCCCATGGAACAAGGGCATTTTGCCA:GCCAACCCCATGGAACAAGGGCATTTTGCCAACCCCATGGAACAAGGGCATTTTGCCA p.(Asn2331_Ala2339dup) NC_000022.11:41178776:GCCAACCCCATGGAACAAGGGCATTTTGCCA:GCCAACCCCATGGAACAAGGGCATTTTGCCAACCCCATGGAACAAGGGCATTTTGCCA p.(Asn2331_Ala2339dup) ERR:SPDI Identity +NM_001130066.2:c.1249_1252dup NP_001123538.1:p.Lys418delinsIleTer NC_000006.12:33438151:TATATA:TATATATATA p.(Lys418IlefsTer2) NC_000006.12:33438151:TATATA:TATATATATA p.(Lys418IlefsTer2) ERR:SPDI Analogous +NM_000080.4:c.357G>A NP_000071.1:p.Gln119= NC_000017.11:4902074:C:T p.(Gln119=) NC_000017.11:4902074:C:T p.(Gln119=) NC_000017.11:4902074:C:T Identity +NM_000237.3:c.84C>G NP_000228.1:p.Ala28= NC_000008.11:19939523:C:G p.(Ala28=) NC_000008.11:19939523:C:G p.(Ala28=) NC_000008.11:19939523:C:G Identity +NM_005502.4:c.6018C>T NP_005493.2:p.His2006= NC_000009.12:104788476:G:A p.(His2006=) NC_000009.12:104788476:G:A p.(His2006=) NC_000009.12:104788476:G:A Identity +NM_006946.4:c.4944G>A NP_008877.2:p.Ala1648= NC_000011.10:66693010:C:T p.(Ala1648=) NC_000011.10:66693010:C:T p.(Ala1648=) NC_000011.10:66693010:C:T Identity +NM_001079668.3:c.802_803insTCGGCGGGG NP_001073136.1:p.Gly267_Gly268insValGlyGly NC_000014.9:36517681:CCCCGCCG:CCCCGCCGACCCCGCCG p.(Gly267_Gly268insValGlyGly) NC_000014.9:36517680:C:CCCCGCCGA p.(Gly267_Gly268insValGlyGly) NC_000014.9:36517681:CC:CCCCGCCGA Identity +NM_001042594.2:c.873A>G NP_001036059.1:p.Lys291= NC_000007.14:124841075:T:C p.(Lys291=) NC_000007.14:124841075:T:C p.(Lys291=) NC_000007.14:124841075:T:C Identity +NM_004501.3:c.978A>G NP_004492.2:p.Pro326= NC_000001.11:244859356:T:C p.(Pro326=) NC_000001.11:244859356:T:C p.(Pro326=) NC_000001.11:244859356:T:C Identity +NM_006231.4:c.5676C>T NP_006222.2:p.Ser1892= NC_000012.12:132638015:G:A p.(Ser1892=) NC_000012.12:132638015:G:A p.(Ser1892=) NC_000012.12:132638015:G:A Identity +NM_005585.5:c.25C>T NP_005576.3:p.Leu9= NC_000015.10:66703282:C:T p.(Leu9=) NC_000015.10:66703282:C:T p.(Leu9=) NC_000015.10:66703282:C:T Identity +NM_000435.3:c.678T>C NP_000426.2:p.Pro226= NC_000019.10:15191960:A:G p.(Pro226=) NC_000019.10:15191960:A:G p.(Pro226=) NC_000019.10:15191960:A:G Identity +NM_001289123.2:c.1353C>T NP_001276052.1:p.Gly451= NC_000019.10:6495298:G:A p.(Gly451=) NC_000019.10:6495298:G:A p.(Gly451=) NC_000019.10:6495298:G:A Identity +NM_001301012.2:c.417C>T NP_001287941.1:p.Tyr139= NC_000006.12:133462475:C:T p.(Tyr139=) NC_000006.12:133462475:C:T p.(Tyr139=) NC_000006.12:133462475:C:T Identity +NM_004958.4:c.6975G>A NP_004949.1:p.Ala2325= NC_000001.11:11117044:C:T p.(Ala2325=) NC_000001.11:11117044:C:T p.(Ala2325=) NC_000001.11:11117044:C:T Identity +NM_001293306.2:c.5757C>G NP_001280235.2:p.Ser1919= NC_000003.12:38697459:G:C p.(Ser1919=) NC_000003.12:38697459:G:C p.(Ser1919=) NC_000003.12:38697459:G:C Identity +NM_001081955.3:c.1657AGC[3] NP_001075424.1:p.Ser554dup NC_000017.11:65225259:AGCAGC:AGCAGCAGC p.(Ser554dup) NC_000017.11:65225259:A:AGCAGCAGC ERR:Parse ERR:Parse Identity +NM_001127384.3:c.2686T>C NP_001120856.1:p.Ter896Arg NC_000010.11:65920331:A:G p.(Ter896ArgextTer39) NC_000010.11:65920331:A:G p.(Ter896ArgextTer39) NC_000010.11:65920331:A:G Analogous +NM_001042473.4:c.249A>G NP_001035938.1:p.Ala83= NC_000010.11:27231768:T:C p.(Ala83=) NC_000010.11:27231768:T:C p.(Ala83=) NC_000010.11:27231768:T:C Identity +NM_001039476.3:c.154_180del NP_001034565.1:p.Leu52_Ala60del NC_000016.10:100421:GGCCGCATAGTGGATCTTGTGGGGCAGG:G p.(Leu52_Ala60del) NC_000016.10:100421:GGCCGCATAGTGGATCTTGTGGGGCAGG:G p.(Leu52_Ala60del) NC_000016.10:100421:GGCCGCATAGTGGATCTTGTGGGGCAG: Identity +NM_000143.4:c.438A>T NP_000134.2:p.Gly146= NC_000001.11:241512083:T:A p.(Gly146=) NC_000001.11:241512083:T:A p.(Gly146=) NC_000001.11:241512083:T:A Identity +NM_001130066.2:c.2787C>T NP_001123538.1:p.Gly929= NC_000006.12:33443380:C:T p.(Gly929=) NC_000006.12:33443380:C:T p.(Gly929=) NC_000006.12:33443380:C:T Identity +NM_001134363.3:c.1242T>C NP_001127835.2:p.Cys414= NC_000010.11:110781850:T:C p.(Cys414=) NC_000010.11:110781850:T:C p.(Cys414=) NC_000010.11:110781850:T:C Identity +NM_001853.4:c.1623_1625dup NP_001844.3:p.Ala542dup NC_000020.11:62837099:GCCGC:GCCGCCGC p.(Ala542dup) NC_000020.11:62837099:GCCGC:GCCGCCGC p.(Ala542dup) ERR:SPDI Identity +NM_001365684.2:c.4880_4881delAT NP_001352613.2:p.Tyr1627Terfs NC_000005.10:177280693:TAT:T p.(Tyr1627Ter) NC_000005.10:177280693:TAT:T p.(Tyr1627Ter) NC_000005.10:177280694:AT: Analogous +NM_000127.3:c.752del NP_000118.2:p.Phe250_Leu251insTer NC_000008.11:118110294:AAAAA:AAAA p.(Leu251Ter) NC_000008.11:118110294:AAAAA:AAAA p.(Leu251Ter) NC_000008.11:118110294:A: Analogous +NM_004369.4:c.7188C>T NP_004360.2:p.Cys2396= NC_000002.12:237344829:G:A p.(Cys2396=) NC_000002.12:237344829:G:A p.(Cys2396=) NC_000002.12:237344829:G:A Identity +NM_003384.3:c.561C>T NP_003375.1:p.Tyr187= NC_000014.9:96853150:C:T p.(Tyr187=) NC_000014.9:96853150:C:T p.(Tyr187=) NC_000014.9:96853150:C:T Identity +NM_000238.4:c.1419C>A NP_000229.1:p.Thr473= NC_000007.14:150952562:G:T p.(Thr473=) NC_000007.14:150952562:G:T p.(Thr473=) NC_000007.14:150952562:G:T Identity +NM_015180.6:c.13683T>A NP_055995.4:p.Gly4561= NC_000014.9:64126454:T:A p.(Gly4561=) NC_000014.9:64126454:T:A p.(Gly4561=) NC_000014.9:64126454:T:A Identity +NM_001079802.2:c.111A>G NP_001073270.1:p.Gly37= NC_000009.12:105596602:A:G p.(Gly37=) NC_000009.12:105596602:A:G p.(Gly37=) NC_000009.12:105596602:A:G Identity +NM_004369.4:c.8583C>T NP_004360.2:p.Asn2861= NC_000002.12:237336516:G:A p.(Asn2861=) NC_000002.12:237336516:G:A p.(Asn2861=) NC_000002.12:237336516:G:A Identity +NM_001164097.2:c.5304A>G NP_001157569.1:p.Lys1768= NC_000005.10:83541267:A:G p.(Lys1768=) NC_000005.10:83541267:A:G p.(Lys1768=) NC_000005.10:83541267:A:G Identity +NM_003327.4:c.549G>A NP_003318.1:p.Pro183= NC_000001.11:1212026:C:T p.(Pro183=) NC_000001.11:1212026:C:T p.(Pro183=) NC_000001.11:1212026:C:T Identity +NM_001376.5:c.6147C>T NP_001367.2:p.Ile2049= NC_000014.9:102010011:C:T p.(Ile2049=) NC_000014.9:102010011:C:T p.(Ile2049=) NC_000014.9:102010011:C:T Identity +NM_005120.3:c.4290C>T NP_005111.2:p.Pro1430= NC_000023.11:71132412:C:T p.(Pro1430=) NC_000023.11:71132412:C:T p.(Pro1430=) NC_000023.11:71132412:C:T Identity +NM_001098.3:c.16C>T NP_001089.1:p.Leu6= NC_000022.11:41469161:C:T p.(Leu6=) NC_000022.11:41469161:C:T p.(Leu6=) NC_000022.11:41469161:C:T Identity +NM_003322.6:c.225C>G NP_003313.3:p.Ser75= NC_000006.12:35511771:G:C p.(Ser75=) NC_000006.12:35511771:G:C p.(Ser75=) NC_000006.12:35511771:G:C Identity +NM_002661.5:c.2304C>G NP_002652.2:p.Ser768= NC_000016.10:81921265:C:G p.(Ser768=) NC_000016.10:81921265:C:G p.(Ser768=) NC_000016.10:81921265:C:G Identity +NM_001256849.1:c.2337G>T NP_001243778.1:p.Ala779= NC_000019.10:50413827:G:T p.(Ala779=) NC_000019.10:50413827:G:T p.(Ala779=) NC_000019.10:50413827:G:T Identity +NM_002234.4:c.1407C>T NP_002225.2:p.Asp469= NC_000012.12:5045553:C:T p.(Asp469=) NC_000012.12:5045553:C:T p.(Asp469=) NC_000012.12:5045553:C:T Identity +NM_001003722.2:c.1545A>G NP_001003722.1:p.Arg515= NC_000009.12:128533849:A:G p.(Arg515=) NC_000009.12:128533849:A:G p.(Arg515=) NC_000009.12:128533849:A:G Identity +NM_032888.4:c.1629G>A NP_116277.2:p.Lys543= NC_000009.12:114169183:G:A p.(Lys543=) NC_000009.12:114169183:G:A p.(Lys543=) NC_000009.12:114169183:G:A Identity +NM_000495.5:c.3189C>A NP_000486.1:p.Gly1063= NC_000023.11:108626291:C:A p.(Gly1063=) NC_000023.11:108626291:C:A p.(Gly1063=) NC_000023.11:108626291:C:A Identity +NM_001256849.1:c.2448C>T NP_001243778.1:p.Ser816= NC_000019.10:50414873:C:T p.(Ser816=) NC_000019.10:50414873:C:T p.(Ser816=) NC_000019.10:50414873:C:T Identity +NM_001243564.2:c.202C>T NP_001230493.1:p.Leu68= NC_000001.11:26442751:C:T p.(Leu68=) NC_000001.11:26442751:C:T p.(Leu68=) NC_000001.11:26442751:C:T Identity +NM_000102.4:c.777C>T NP_000093.1:p.Ile259= NC_000010.11:102833184:G:A p.(Ile259=) NC_000010.11:102833184:G:A p.(Ile259=) NC_000010.11:102833184:G:A Identity +NM_000719.7:c.135C>T NP_000710.5:p.Thr45= NC_000012.12:2115308:C:T p.(Thr45=) NC_000012.12:2115308:C:T p.(Thr45=) NC_000012.12:2115308:C:T Identity +NM_001316690.1:c.1395C>T NP_001303619.1:p.Ser465= NC_000008.11:60742826:C:T p.(Ser465=) NC_000008.11:60742826:C:T p.(Ser465=) NC_000008.11:60742826:C:T Identity +NM_012469.4:c.498C>T NP_036601.2:p.Ala166= NC_000020.11:63994974:C:T p.(Ala166=) NC_000020.11:63994974:C:T p.(Ala166=) NC_000020.11:63994974:C:T Identity +NM_001024218.2:c.603C>G NP_001019389.1:p.Pro201= NC_000014.9:66922811:C:G p.(Pro201=) NC_000014.9:66922811:C:G p.(Pro201=) NC_000014.9:66922811:C:G Identity +NM_152309.3:c.951T>C NP_689522.2:p.Phe317= NC_000010.11:96651284:A:G p.(Phe317=) NC_000010.11:96651284:A:G p.(Phe317=) NC_000010.11:96651284:A:G Identity +NM_000218.3:c.267G>A NP_000209.2:p.Pro89= NC_000011.10:2445364:G:A p.(Pro89=) NC_000011.10:2445364:G:A p.(Pro89=) NC_000011.10:2445364:G:A Identity +NM_001318219.1:c.9C>T NP_001305148.1:p.Ala3= NC_000020.11:35477911:C:T p.(Ala3=) NC_000020.11:35477911:C:T p.(Ala3=) NC_000020.11:35477911:C:T Identity +NM_000489.6:c.3273G>A NP_000480.3:p.Lys1091= NC_000023.11:77681982:C:T p.(Lys1091=) NC_000023.11:77681982:C:T p.(Lys1091=) NC_000023.11:77681982:C:T Identity +NM_000050.4:c.132C>T NP_000041.2:p.Phe44= NC_000009.12:130454330:C:T p.(Phe44=) NC_000009.12:130454330:C:T p.(Phe44=) NC_000009.12:130454330:C:T Identity +NM_000548.5:c.1395G>A NP_000539.2:p.Val465= NC_000016.10:2063004:G:A p.(Val465=) NC_000016.10:2063004:G:A p.(Val465=) NC_000016.10:2063004:G:A Identity +NM_000252.3:c.147T>A NP_000243.1:p.Val49= NC_000023.11:150598601:T:A p.(Val49=) NC_000023.11:150598601:T:A p.(Val49=) NC_000023.11:150598601:T:A Identity +NM_001081640.2:c.1590C>T NP_001075109.1:p.Leu530= NC_000008.11:47933997:G:A p.(Leu530=) NC_000008.11:47933997:G:A p.(Leu530=) NC_000008.11:47933997:G:A Identity +NM_001330588.2:c.1962T>C NP_001317517.1:p.Phe654= NC_000013.11:102640317:T:C p.(Phe654=) NC_000013.11:102640317:T:C p.(Phe654=) NC_000013.11:102640317:T:C Identity +NM_003384.3:c.495G>C NP_003375.1:p.Leu165= NC_000014.9:96853084:G:C p.(Leu165=) NC_000014.9:96853084:G:C p.(Leu165=) NC_000014.9:96853084:G:C Identity +NM_001191028.3:c.1695A>G NP_001177957.2:p.Gly565= NC_000007.14:128980003:T:C p.(Gly565=) NC_000007.14:128980003:T:C p.(Gly565=) NC_000007.14:128980003:T:C Identity +NM_000540.3:c.6807C>T NP_000531.2:p.Gly2269= NC_000019.10:38496869:C:T p.(Gly2269=) NC_000019.10:38496869:C:T p.(Gly2269=) NC_000019.10:38496869:C:T Identity +NM_002437.5:c.378T>C NP_002428.1:p.Asp126= NC_000002.12:27312243:A:G p.(Asp126=) NC_000002.12:27312243:A:G p.(Asp126=) NC_000002.12:27312243:A:G Identity +NM_005472.5:c.279T>C NP_005463.1:p.His93= NC_000011.10:74457284:A:G p.(His93=) NC_000011.10:74457284:A:G p.(His93=) NC_000011.10:74457284:A:G Identity +NM_000449.4:c.1630A>C NP_000440.1:p.Arg544= NC_000001.11:151342406:T:G p.(Arg544=) NC_000001.11:151342406:T:G p.(Arg544=) NC_000001.11:151342406:T:G Identity +NM_001303249.3:c.909T>C NP_001290178.1:p.Gly303= NC_000005.10:110761676:T:C p.(Gly303=) NC_000005.10:110761676:T:C p.(Gly303=) NC_000005.10:110761676:T:C Identity +NM_001321309.2:c.4605G>A NP_001308238.1:p.Thr1535= NC_000003.12:123626922:C:T p.(Thr1535=) NC_000003.12:123626922:C:T p.(Thr1535=) NC_000003.12:123626922:C:T Identity +NM_001256267.2:c.2643C>T NP_001243196.1:p.Asn881= NC_000010.11:68175400:C:T p.(Asn881=) NC_000010.11:68175400:C:T p.(Asn881=) NC_000010.11:68175400:C:T Identity +NM_001318360.2:c.2679C>T NP_001305289.1:p.Leu893= NC_000009.12:108891341:G:A p.(Leu893=) NC_000009.12:108891341:G:A p.(Leu893=) NC_000009.12:108891341:G:A Identity +NM_000246.4:c.2319A>C NP_000237.2:p.Leu773= NC_000016.10:10907810:A:C p.(Leu773=) NC_000016.10:10907810:A:C p.(Leu773=) NC_000016.10:10907810:A:C Identity +NM_001377289.1:c.270C>T NP_001364218.1:p.Ser90= NC_000006.12:70274748:G:A p.(Ser90=) NC_000006.12:70274748:G:A p.(Ser90=) NC_000006.12:70274748:G:A Identity +NM_001354609.2:c.1330C>A NP_001341538.1:p.Arg444= NC_000007.14:140781677:G:T p.(Arg444=) NC_000007.14:140781677:G:T p.(Arg444=) NC_000007.14:140781677:G:T Identity +NM_000109.4:c.4179G>A NP_000100.3:p.Val1393= NC_000023.11:32411781:C:T p.(Val1393=) NC_000023.11:32411781:C:T p.(Val1393=) NC_000023.11:32411781:C:T Identity +NM_000126.4:c.264T>G NP_000117.1:p.Leu88= NC_000015.10:76292622:A:C p.(Leu88=) NC_000015.10:76292622:A:C p.(Leu88=) NC_000015.10:76292622:A:C Identity +NM_198506.5:c.1797T>A NP_940908.3:p.Ile599= NC_000004.12:109870545:T:A p.(Ile599=) NC_000004.12:109870545:T:A p.(Ile599=) NC_000004.12:109870545:T:A Identity +NM_004946.3:c.2784G>A NP_004937.1:p.Arg928= NC_000005.10:169840836:G:A p.(Arg928=) NC_000005.10:169840836:G:A p.(Arg928=) NC_000005.10:169840836:G:A Identity +NM_000719.7:c.747C>T NP_000710.5:p.Ser249= NC_000012.12:2457695:C:T p.(Ser249=) NC_000012.12:2457695:C:T p.(Ser249=) NC_000012.12:2457695:C:T Identity +NM_020451.3:c.1620C>T NP_065184.2:p.Ala540= NC_000001.11:25815564:C:T p.(Ala540=) NC_000001.11:25815564:C:T p.? NC_000001.11:25815564:C:T Identity +NM_000103.4:c.1188G>A NP_000094.2:p.Leu396= NC_000015.10:51212394:C:T p.(Leu396=) NC_000015.10:51212394:C:T p.(Leu396=) NC_000015.10:51212394:C:T Identity +NM_001321309.2:c.2757G>C NP_001308238.1:p.Gly919= NC_000003.12:123700182:C:G p.(Gly919=) NC_000003.12:123700182:C:G p.(Gly919=) NC_000003.12:123700182:C:G Identity +NM_000246.4:c.312T>C NP_000237.2:p.Tyr104= NC_000016.10:10898685:T:C p.(Tyr104=) NC_000016.10:10898685:T:C p.(Tyr104=) NC_000016.10:10898685:T:C Identity +NM_001958.5:c.738G>C NP_001949.1:p.Leu246= NC_000020.11:63493170:C:G p.(Leu246=) NC_000020.11:63493170:C:G p.(Leu246=) NC_000020.11:63493170:C:G Identity +NM_001377456.1:c.1296C>T NP_001364385.1:p.Pro432= NC_000016.10:56500954:G:A p.(Pro432=) NC_000016.10:56500954:G:A p.(Pro432=) NC_000016.10:56500954:G:A Identity +NM_000237.3:c.1092T>A NP_000228.1:p.Ile364= NC_000008.11:19959332:T:A p.(Ile364=) NC_000008.11:19959332:T:A p.(Ile364=) NC_000008.11:19959332:T:A Identity +NM_001128175.2:c.282A>G NP_001121647.1:p.Lys94= NC_000018.10:34794169:A:G p.(Lys94=) NC_000018.10:34794169:A:G p.(Lys94=) NC_000018.10:34794169:A:G Identity +NM_001199199.3:c.600C>T NP_001186128.1:p.Ser200= NC_000001.11:33013276:G:A p.(Ser200=) NC_000001.11:33013276:G:A p.(Ser200=) NC_000001.11:33013276:G:A Identity +NM_001145853.1:c.2610C>G NP_001139325.1:p.Thr870= NC_000004.12:6302404:C:G p.(Thr870=) NC_000004.12:6302404:C:G p.(Thr870=) NC_000004.12:6302404:C:G Identity +NM_005477.3:c.2523G>T NP_005468.1:p.Ser841= NC_000015.10:73323569:C:A p.(Ser841=) NC_000015.10:73323569:C:A p.(Ser841=) NC_000015.10:73323569:C:A Identity +NM_001346899.2:c.3411G>A NP_001333828.1:p.Lys1137= NC_000007.14:55205529:G:A p.(Lys1137=) NC_000007.14:55205529:G:A p.(Lys1137=) NC_000007.14:55205529:G:A Identity +NM_001040113.2:c.2506C>T NP_001035202.1:p.Leu836= NC_000016.10:15745163:G:A p.(Leu836=) NC_000016.10:15745163:G:A p.(Leu836=) NC_000016.10:15745163:G:A Identity +NM_001321309.2:c.3696C>T NP_001308238.1:p.Asn1232= NC_000003.12:123657189:G:A p.(Asn1232=) NC_000003.12:123657189:G:A p.(Asn1232=) NC_000003.12:123657189:G:A Identity +NM_000628.5:c.21C>T NP_000619.3:p.Ser7= NC_000021.9:33266485:C:T p.(Ser7=) NC_000021.9:33266485:C:T p.(Ser7=) NC_000021.9:33266485:C:T Identity +NM_030662.4:c.786C>T NP_109587.1:p.Val262= NC_000019.10:4099333:G:A p.(Val262=) NC_000019.10:4099333:G:A p.(Val262=) NC_000019.10:4099333:G:A Identity +NM_000238.4:c.504C>T NP_000229.1:p.Pro168= NC_000007.14:150958470:G:A p.(Pro168=) NC_000007.14:150958470:G:A p.(Pro168=) NC_000007.14:150958470:G:A Identity +NM_000198.4:c.48G>A NP_000189.1:p.Gln16= NC_000001.11:119415466:G:A p.(Gln16=) NC_000001.11:119415466:G:A p.(Gln16=) NC_000001.11:119415466:G:A Identity +NM_015164.4:c.519G>A NP_055979.2:p.Gln173= NC_000001.11:15719786:G:A p.(Gln173=) NC_000001.11:15719786:G:A p.(Gln173=) NC_000001.11:15719786:G:A Identity +NM_000478.6:c.1098C>G NP_000469.3:p.Thr366= NC_000001.11:21575832:C:G p.(Thr366=) NC_000001.11:21575832:C:G p.(Thr366=) NC_000001.11:21575832:C:G Identity +NM_001346899.2:c.3153C>G NP_001333828.1:p.Ser1051= NC_000007.14:55205271:C:G p.(Ser1051=) NC_000007.14:55205271:C:G p.(Ser1051=) NC_000007.14:55205271:C:G Identity +NM_001290307.3:c.1470A>G NP_001277236.1:p.Gln490= NC_000005.10:138917821:A:G p.(Gln490=) NC_000005.10:138917821:A:G p.(Gln490=) NC_000005.10:138917821:A:G Identity +NM_032806.6:c.1380C>A NP_116195.2:p.Thr460= NC_000003.12:43080051:G:T p.(Thr460=) NC_000003.12:43080051:G:T p.(Thr460=) NC_000003.12:43080051:G:T Identity +NM_006445.4:c.4938T>C NP_006436.3:p.Ala1646= NC_000017.11:1659848:A:G p.(Ala1646=) NC_000017.11:1659848:A:G p.(Ala1646=) NC_000017.11:1659848:A:G Identity +NM_020361.5:c.720C>G NP_065094.3:p.Val240= NC_000008.11:67484705:G:C p.(Val240=) NC_000008.11:67484705:G:C p.(Val240=) NC_000008.11:67484705:G:C Identity +NM_005477.3:c.1407C>G NP_005468.1:p.Leu469= NC_000015.10:73329755:G:C p.(Leu469=) NC_000015.10:73329755:G:C p.(Leu469=) NC_000015.10:73329755:G:C Identity +NM_000109.4:c.1602C>T NP_000100.3:p.Asn534= NC_000023.11:32573822:G:A p.(Asn534=) NC_000023.11:32573822:G:A p.(Asn534=) NC_000023.11:32573822:G:A Identity +NM_001001523.2:c.1338A>C NP_001001523.1:p.Pro446= NC_000001.11:151807627:T:G p.(Pro446=) NC_000001.11:151807627:T:G p.(Pro446=) NC_000001.11:151807627:T:G Identity +NM_001193300.2:c.1011G>A NP_001180229.1:p.Ala337= NC_000001.11:156162970:G:A p.(Ala337=) NC_000001.11:156162970:G:A p.(Ala337=) NC_000001.11:156162970:G:A Identity +NM_001346279.2:c.2145A>G NP_001333208.1:p.Gln715= NC_000011.10:10770244:A:G p.(Gln715=) NC_000011.10:10770244:A:G p.(Gln715=) NC_000011.10:10770244:A:G Identity +NM_000260.4:c.5088G>A NP_000251.3:p.Arg1696= NC_000011.10:77202343:G:A p.(Arg1696=) NC_000011.10:77202343:G:A p.(Arg1696=) NC_000011.10:77202343:G:A Identity +NM_019098.5:c.15G>C NP_061971.3:p.Leu5= NC_000008.11:86743612:C:G p.(Leu5=) NC_000008.11:86743612:C:G p.(Leu5=) NC_000008.11:86743612:C:G Identity +NM_019098.5:c.1539T>C NP_061971.3:p.Asp513= NC_000008.11:86626021:A:G p.(Asp513=) NC_000008.11:86626021:A:G p.(Asp513=) NC_000008.11:86626021:A:G Identity +NM_001037.5:c.69G>A NP_001028.1:p.Glu23= NC_000019.10:35032555:G:A p.(Glu23=) NC_000019.10:35032555:G:A p.(Glu23=) NC_000019.10:35032555:G:A Identity +NM_001354768.3:c.315C>T NP_001341697.1:p.Val105= NC_000014.9:24082533:G:A p.(Val105=) NC_000014.9:24082533:G:A p.(Val105=) NC_000014.9:24082533:G:A Identity +NM_001036.6:c.5232G>C NP_001027.3:p.Arg1744= NC_000015.10:33662761:G:C p.(Arg1744=) NC_000015.10:33662761:G:C p.(Arg1744=) NC_000015.10:33662761:G:C Identity +NM_000628.5:c.177T>C NP_000619.3:p.Tyr59= NC_000021.9:33276598:T:C p.(Tyr59=) NC_000021.9:33276598:T:C p.(Tyr59=) NC_000021.9:33276598:T:C Identity +NM_001128844.3:c.4725T>C NP_001122316.1:p.Ser1575= NC_000019.10:11059841:T:C p.(Ser1575=) NC_000019.10:11059841:T:C p.(Ser1575=) NC_000019.10:11059841:T:C Identity +NM_000092.5:c.2184A>G NP_000083.3:p.Gly728= NC_000002.12:227059603:T:C p.(Gly728=) NC_000002.12:227059603:T:C p.(Gly728=) NC_000002.12:227059603:T:C Identity +NM_000489.6:c.5853T>C NP_000480.3:p.Asp1951= NC_000023.11:77599513:A:G p.(Asp1951=) NC_000023.11:77599513:A:G p.(Asp1951=) NC_000023.11:77599513:A:G Identity +NM_000101.4:c.351G>A NP_000092.2:p.Ala117= NC_000016.10:88646133:C:T p.(Ala117=) NC_000016.10:88646133:C:T p.(Ala117=) NC_000016.10:88646133:C:T Identity +NM_014141.6:c.771C>T NP_054860.1:p.Gly257= NC_000007.14:147120994:C:T p.(Gly257=) NC_000007.14:147120994:C:T p.(Gly257=) NC_000007.14:147120994:C:T Identity +NM_032888.4:c.1641C>T NP_116277.2:p.Pro547= NC_000009.12:114169195:C:T p.(Pro547=) NC_000009.12:114169195:C:T p.(Pro547=) NC_000009.12:114169195:C:T Identity +NM_000548.5:c.1908A>G NP_000539.2:p.Gly636= NC_000016.10:2071577:A:G p.(Gly636=) NC_000016.10:2071577:A:G p.(Gly636=) NC_000016.10:2071577:A:G Identity +NM_001385640.1:c.2415C>G NP_001372569.1:p.Pro805= NC_000001.11:944029:C:G p.(Pro805=) NC_000001.11:944029:C:G p.(Pro805=) NC_000001.11:944029:C:G Identity +NM_003659.4:c.1167G>A NP_003650.1:p.Lys389= NC_000002.12:177482119:G:A p.(Lys389=) NC_000002.12:177482119:G:A p.(Lys389=) NC_000002.12:177482119:G:A Identity +NM_173354.5:c.348T>G NP_775490.2:p.Thr116= NC_000021.9:43421788:A:C p.(Thr116=) NC_000021.9:43421788:A:C p.(Thr116=) NC_000021.9:43421788:A:C Identity +NM_003659.4:c.45G>C NP_003650.1:p.Ala15= NC_000002.12:177392833:G:C p.(Ala15=) NC_000002.12:177392833:G:C p.(Ala15=) NC_000002.12:177392833:G:C Identity +NM_002661.5:c.666A>G NP_002652.2:p.Lys222= NC_000016.10:81880926:A:G p.(Lys222=) NC_000016.10:81880926:A:G p.(Lys222=) NC_000016.10:81880926:A:G Identity +NM_000202.8:c.504T>A NP_000193.1:p.Thr168= NC_000023.11:149500951:A:T p.(Thr168=) NC_000023.11:149500951:A:T p.(Thr168=) NC_000023.11:149500951:A:T Identity +NM_014585.6:c.72A>G NP_055400.1:p.Ala24= NC_000002.12:189579851:T:C p.(Ala24=) NC_000002.12:189579851:T:C p.(Ala24=) NC_000002.12:189579851:T:C Identity +NM_138694.4:c.8781C>G NP_619639.3:p.Leu2927= NC_000006.12:51754799:G:C p.(Leu2927=) NC_000006.12:51754799:G:C p.(Leu2927=) NC_000006.12:51754799:G:C Identity +NM_138694.4:c.9621C>T NP_619639.3:p.Ala3207= NC_000006.12:51747994:G:A p.(Ala3207=) NC_000006.12:51747994:G:A p.(Ala3207=) NC_000006.12:51747994:G:A Identity +NM_000390.4:c.777T>C NP_000381.1:p.Asn259= NC_000023.11:85958902:A:G p.(Asn259=) NC_000023.11:85958902:A:G p.(Asn259=) NC_000023.11:85958902:A:G Identity +NM_001030311.3:c.1251A>G NP_001025482.1:p.Gln417= NC_000002.12:181547712:T:C p.(Gln417=) NC_000002.12:181547712:T:C p.(Gln417=) NC_000002.12:181547712:T:C Identity +NM_001002019.3:c.1095C>G NP_001002019.1:p.Thr365= NC_000012.12:131941925:C:G p.(Thr365=) NC_000012.12:131941925:C:G p.(Thr365=) NC_000012.12:131941925:C:G Identity +NM_000489.6:c.3703C>T NP_000480.3:p.Leu1235= NC_000023.11:77681552:G:A p.(Leu1235=) NC_000023.11:77681552:G:A p.(Leu1235=) NC_000023.11:77681552:G:A Identity +NM_001365999.1:c.4576C>T NP_001352928.1:p.Leu1526= NC_000001.11:43430590:C:T p.(Leu1526=) NC_000001.11:43430590:C:T p.(Leu1526=) NC_000001.11:43430590:C:T Identity +NM_000198.4:c.993G>A NP_000189.1:p.Lys331= NC_000001.11:119422493:G:A p.(Lys331=) NC_000001.11:119422493:G:A p.(Lys331=) NC_000001.11:119422493:G:A Identity +NM_001039958.2:c.342G>C NP_001035047.1:p.Pro114= NC_000015.10:89776698:G:C p.(Pro114=) NC_000015.10:89776698:G:C p.(Pro114=) NC_000015.10:89776698:G:C Identity +NM_001958.5:c.984C>T NP_001949.1:p.Asp328= NC_000020.11:63490523:G:A p.(Asp328=) NC_000020.11:63490523:G:A p.(Asp328=) NC_000020.11:63490523:G:A Identity +NM_001184.4:c.4368T>C NP_001175.2:p.Pro1456= NC_000003.12:142519682:A:G p.(Pro1456=) NC_000003.12:142519682:A:G p.(Pro1456=) NC_000003.12:142519682:A:G Identity +NM_001172695.2:c.288G>A NP_001166166.1:p.Lys96= NC_000012.12:57786218:G:A p.(Lys96=) NC_000012.12:57786218:G:A p.(Lys96=) NC_000012.12:57786218:G:A Identity +NM_001163022.3:c.417A>G NP_001156494.1:p.Val139= NC_000020.11:21162190:A:G p.(Val139=) NC_000020.11:21162190:A:G p.(Val139=) NC_000020.11:21162190:A:G Identity +NM_001042465.3:c.1059G>A NP_001035930.1:p.Pro353= NC_000010.11:71819855:C:T p.(Pro353=) NC_000010.11:71819855:C:T p.(Pro353=) NC_000010.11:71819855:C:T Identity +NM_001039958.2:c.510C>G NP_001035047.1:p.Pro170= NC_000015.10:89776866:C:G p.(Pro170=) NC_000015.10:89776866:C:G p.(Pro170=) NC_000015.10:89776866:C:G Identity +NM_014049.5:c.219C>T NP_054768.2:p.Pro73= NC_000003.12:128884720:C:T p.(Pro73=) NC_000003.12:128884720:C:T p.(Pro73=) NC_000003.12:128884720:C:T Identity +NM_000335.5:c.615C>T NP_000326.2:p.Tyr205= NC_000003.12:38613830:G:A p.(Tyr205=) NC_000003.12:38613830:G:A p.(Tyr205=) NC_000003.12:38613830:G:A Identity +NM_001256267.2:c.3786T>C NP_001243196.1:p.Asp1262= NC_000010.11:68206895:T:C p.(Asp1262=) NC_000010.11:68206895:T:C p.(Asp1262=) NC_000010.11:68206895:T:C Identity +NM_017780.4:c.4002A>G NP_060250.2:p.Glu1334= NC_000008.11:60836828:A:G p.(Glu1334=) NC_000008.11:60836828:A:G p.(Glu1334=) NC_000008.11:60836828:A:G Identity +NM_001007468.3:c.420A>C NP_001007469.1:p.Thr140= NC_000022.11:23801027:A:C p.(Thr140=) NC_000022.11:23801027:A:C p.(Thr140=) NC_000022.11:23801027:A:C Identity +NM_001365999.1:c.8835G>A NP_001352928.1:p.Arg2945= NC_000001.11:43445902:G:A p.(Arg2945=) NC_000001.11:43445902:G:A p.(Arg2945=) NC_000001.11:43445902:G:A Identity +NM_001039958.2:c.591G>A NP_001035047.1:p.Gly197= NC_000015.10:89776947:G:A p.(Gly197=) NC_000015.10:89776947:G:A p.(Gly197=) NC_000015.10:89776947:G:A Identity +NM_001844.5:c.441A>G NP_001835.3:p.Gly147= NC_000012.12:47997695:T:C p.(Gly147=) NC_000012.12:47997695:T:C p.(Gly147=) NC_000012.12:47997695:T:C Identity +NM_174934.4:c.156C>G NP_777594.1:p.Pro52= NC_000011.10:118145134:G:C p.(Pro52=) NC_000011.10:118145134:G:C p.(Pro52=) NC_000011.10:118145134:G:C Identity +NM_005751.5:c.231G>T NP_005742.4:p.Val77= NC_000007.14:91973892:G:T p.(Val77=) NC_000007.14:91973892:G:T p.(Val77=) NC_000007.14:91973892:G:T Identity +NM_014000.3:c.2847C>T NP_054706.1:p.Tyr949= NC_000010.11:74112009:C:T p.(Tyr949=) NC_000010.11:74112009:C:T p.(Tyr949=) NC_000010.11:74112009:C:T Identity +NM_001290184.2:c.1416G>A NP_001277113.1:p.Thr472= NC_000001.11:160355882:G:A p.(Thr472=) NC_000001.11:160355882:G:A p.(Thr472=) NC_000001.11:160355882:G:A Identity +NM_138694.4:c.6708G>A NP_619639.3:p.Val2236= NC_000006.12:51906314:C:T p.(Val2236=) NC_000006.12:51906314:C:T p.(Val2236=) NC_000006.12:51906314:C:T Identity +NM_017780.4:c.6153C>T NP_060250.2:p.Ala2051= NC_000008.11:60852877:C:T p.(Ala2051=) NC_000008.11:60852877:C:T p.(Ala2051=) NC_000008.11:60852877:C:T Identity +NM_001276468.2:c.438G>A NP_001263397.1:p.Glu146= NC_000012.12:57630260:C:T p.(Glu146=) NC_000012.12:57630260:C:T p.(Glu146=) NC_000012.12:57630260:C:T Identity +NM_001376.5:c.13731G>T NP_001367.2:p.Leu4577= NC_000014.9:102050116:G:T p.(Leu4577=) NC_000014.9:102050116:G:T p.(Leu4577=) NC_000014.9:102050116:G:T Identity +NM_000486.6:c.69C>T NP_000477.1:p.Phe23= NC_000012.12:49950898:C:T p.(Phe23=) NC_000012.12:49950898:C:T p.(Phe23=) NC_000012.12:49950898:C:T Identity +NM_001178075.2:c.1224C>T NP_001171546.1:p.Tyr408= NC_000007.14:97853337:G:A p.(Tyr408=) NC_000007.14:97853337:G:A p.(Tyr408=) NC_000007.14:97853337:G:A Identity +NM_000246.4:c.2907C>G NP_000237.2:p.Gly969= NC_000016.10:10915587:C:G p.(Gly969=) NC_000016.10:10915587:C:G p.(Gly969=) NC_000016.10:10915587:C:G Identity +NM_032888.4:c.705G>A NP_116277.2:p.Gln235= NC_000009.12:114168259:G:A p.(Gln235=) NC_000009.12:114168259:G:A p.(Gln235=) NC_000009.12:114168259:G:A Identity +NM_001164617.2:c.210A>T NP_001158089.1:p.Pro70= NC_000023.11:133953176:T:A p.(Pro70=) NC_000023.11:133953176:T:A p.(Pro70=) NC_000023.11:133953176:T:A Identity +NM_001363676.1:c.75A>G NP_001350605.1:p.Lys25= NC_000007.14:157363169:A:G p.(Lys25=) NC_000007.14:157363169:A:G p.(Lys25=) NC_000007.14:157363169:A:G Identity +NM_001042529.3:c.1500T>C NP_001035994.1:p.Ile500= NC_000017.11:42565672:T:C p.(Ile500=) NC_000017.11:42565672:T:C p.(Ile500=) NC_000017.11:42565672:T:C Identity +NM_001318219.1:c.495C>G NP_001305148.1:p.Val165= NC_000020.11:35479747:C:G p.(Val165=) NC_000020.11:35479747:C:G p.(Val165=) NC_000020.11:35479747:C:G Identity +NM_001242385.2:c.1353G>A NP_001229314.1:p.Ser451= NC_000006.12:10784535:C:T p.(Ser451=) NC_000006.12:10784535:C:T p.(Ser451=) NC_000006.12:10784535:C:T Identity +NM_001015051.4:c.1347G>A NP_001015051.3:p.Pro449= NC_000006.12:45547151:G:A p.(Pro449=) NC_000006.12:45547151:G:A p.(Pro449=) NC_000006.12:45547151:G:A Identity +NM_000518.5:c.156T>C NP_000509.1:p.Pro52= NC_000011.10:5226735:A:G p.(Pro52=) NC_000011.10:5226735:A:G p.(Pro52=) NC_000011.10:5226735:A:G Identity +NM_000237.3:c.702G>T NP_000228.1:p.Pro234= NC_000008.11:19954279:G:T p.(Pro234=) NC_000008.11:19954279:G:T p.(Pro234=) NC_000008.11:19954279:G:T Identity +NM_019098.5:c.264T>C NP_061971.3:p.Pro88= NC_000008.11:86726604:A:G p.(Pro88=) NC_000008.11:86726604:A:G p.(Pro88=) NC_000008.11:86726604:A:G Identity +NM_000126.4:c.981T>G NP_000117.1:p.Thr327= NC_000015.10:76216579:A:C p.(Thr327=) NC_000015.10:76216579:A:C p.(Thr327=) NC_000015.10:76216579:A:C Identity +NM_001165966.2:c.729T>C NP_001159438.1:p.Ser243= NC_000017.11:6478037:A:G p.(Ser243=) NC_000017.11:6478037:A:G p.(Ser243=) NC_000017.11:6478037:A:G Identity +NM_001007468.3:c.741C>T NP_001007469.1:p.Asp247= NC_000022.11:23816908:C:T p.(Asp247=) NC_000022.11:23816908:C:T p.(Asp247=) NC_000022.11:23816908:C:T Identity +NM_001291902.2:c.1536C>T NP_001278831.1:p.Ile512= NC_000011.10:68425143:C:T p.(Ile512=) NC_000011.10:68425143:C:T p.(Ile512=) NC_000011.10:68425143:C:T Identity +NM_000109.4:c.2817C>T NP_000100.3:p.Thr939= NC_000023.11:32472271:G:A p.(Thr939=) NC_000023.11:32472271:G:A p.(Thr939=) NC_000023.11:32472271:G:A Identity +NM_001079821.3:c.1356G>C NP_001073289.2:p.Arg452= NC_000001.11:247424804:G:C p.(Arg452=) NC_000001.11:247424804:G:C p.(Arg452=) NC_000001.11:247424804:G:C Identity +NM_003954.5:c.90G>T NP_003945.2:p.Pro30= NC_000017.11:45290655:C:A p.(Pro30=) NC_000017.11:45290655:C:A p.(Pro30=) NC_000017.11:45290655:C:A Identity +NM_000238.4:c.888G>C NP_000229.1:p.Leu296= NC_000007.14:150958086:C:G p.(Leu296=) NC_000007.14:150958086:C:G p.(Leu296=) NC_000007.14:150958086:C:G Identity +NM_001193300.2:c.1824C>G NP_001180229.1:p.Gly608= NC_000001.11:156176534:C:G p.(Gly608=) NC_000001.11:156176534:C:G p.(Gly608=) NC_000001.11:156176534:C:G Identity +NM_002500.5:c.933C>T NP_002491.3:p.Ala311= NC_000002.12:181677927:G:A p.(Ala311=) NC_000002.12:181677927:G:A p.(Ala311=) NC_000002.12:181677927:G:A Identity +NM_001036.6:c.4434A>G NP_001027.3:p.Glu1478= NC_000015.10:33660234:A:G p.(Glu1478=) NC_000015.10:33660234:A:G p.(Glu1478=) NC_000015.10:33660234:A:G Identity +NM_000101.4:c.354C>T NP_000092.2:p.Ser118= NC_000016.10:88646130:G:A p.(Ser118=) NC_000016.10:88646130:G:A p.(Ser118=) NC_000016.10:88646130:G:A Identity +NM_002234.4:c.933G>A NP_002225.2:p.Thr311= NC_000012.12:5045079:G:A p.(Thr311=) NC_000012.12:5045079:G:A p.(Thr311=) NC_000012.12:5045079:G:A Identity +NM_001105243.2:c.60C>T NP_001098713.1:p.Ala20= NC_000023.11:100408537:G:A p.(Ala20=) NC_000023.11:100408537:G:A p.(Ala20=) NC_000023.11:100408537:G:A Identity +NM_004104.5:c.3819C>T NP_004095.4:p.Thr1273= NC_000017.11:82085784:G:A p.(Thr1273=) NC_000017.11:82085784:G:A p.(Thr1273=) NC_000017.11:82085784:G:A Identity +NM_001081640.2:c.10578G>T NP_001075109.1:p.Pro3526= NC_000008.11:47794381:C:A p.(Pro3526=) NC_000008.11:47794381:C:A p.(Pro3526=) NC_000008.11:47794381:C:A Identity +NM_138694.4:c.10641A>G NP_619639.3:p.Leu3547= NC_000006.12:51659484:T:C p.(Leu3547=) NC_000006.12:51659484:T:C p.(Leu3547=) NC_000006.12:51659484:T:C Identity +NM_001301738.2:c.381G>A NP_001288667.1:p.Ser127= NC_000005.10:139481188:C:T p.(Ser127=) NC_000005.10:139481188:C:T p.(Ser127=) NC_000005.10:139481188:C:T Identity +NM_004268.5:c.510A>G NP_004259.3:p.Ser170= NC_000011.10:93790665:A:G p.(Ser170=) NC_000011.10:93790665:A:G p.(Ser170=) NC_000011.10:93790665:A:G Identity +NM_000719.7:c.1689G>C NP_000710.5:p.Leu563= NC_000012.12:2567587:G:C p.(Leu563=) NC_000012.12:2567587:G:C p.(Leu563=) NC_000012.12:2567587:G:C Identity +NM_015295.3:c.2982A>C NP_056110.2:p.Thr994= NC_000018.10:2729342:A:C p.(Thr994=) NC_000018.10:2729342:A:C p.(Thr994=) NC_000018.10:2729342:A:C Identity +NM_001164097.2:c.2862C>T NP_001157569.1:p.Tyr954= NC_000005.10:83538825:C:T p.(Tyr954=) NC_000005.10:83538825:C:T p.(Tyr954=) NC_000005.10:83538825:C:T Identity +NM_000501.4:c.1191C>T NP_000492.2:p.Tyr397= NC_000007.14:74056310:C:T p.(Tyr397=) NC_000007.14:74056310:C:T p.(Tyr397=) NC_000007.14:74056310:C:T Identity +NM_001174146.2:c.255G>A NP_001167617.1:p.Ala85= NC_000009.12:126615497:G:A p.(Ala85=) NC_000009.12:126615497:G:A p.(Ala85=) NC_000009.12:126615497:G:A Identity +NM_005477.3:c.144C>T NP_005468.1:p.Ile48= NC_000015.10:73368126:G:A p.(Ile48=) NC_000015.10:73368126:G:A p.(Ile48=) NC_000015.10:73368126:G:A Identity +NM_001030311.3:c.744G>A NP_001025482.1:p.Thr248= NC_000002.12:181565443:C:T p.(Thr248=) NC_000002.12:181565443:C:T p.(Thr248=) NC_000002.12:181565443:C:T Identity +NM_002234.4:c.342G>C NP_002225.2:p.Thr114= NC_000012.12:5044488:G:C p.(Thr114=) NC_000012.12:5044488:G:C p.(Thr114=) NC_000012.12:5044488:G:C Identity +NM_000080.4:c.534C>T NP_000071.1:p.Phe178= NC_000017.11:4901591:G:A p.(Phe178=) NC_000017.11:4901591:G:A p.(Phe178=) NC_000017.11:4901591:G:A Identity +NM_000237.3:c.15C>G NP_000228.1:p.Ala5= NC_000008.11:19939454:C:G p.(Ala5=) NC_000008.11:19939454:C:G p.(Ala5=) NC_000008.11:19939454:C:G Identity +NM_000237.3:c.1113C>T NP_000228.1:p.Ala371= NC_000008.11:19959353:C:T p.(Ala371=) NC_000008.11:19959353:C:T p.(Ala371=) NC_000008.11:19959353:C:T Identity +NM_001083116.3:c.936C>T NP_001076585.1:p.Asn312= NC_000010.11:70598784:G:A p.(Asn312=) NC_000010.11:70598784:G:A p.(Asn312=) NC_000010.11:70598784:G:A Identity +NM_001134418.2:c.376C>T NP_001127890.1:p.Leu126= NC_000003.12:189988942:G:A p.(Leu126=) NC_000003.12:189988942:G:A p.(Leu126=) NC_000003.12:189988942:G:A Identity +NM_000228.3:c.2685C>A NP_000219.2:p.Val895= NC_000001.11:209622551:G:T p.(Val895=) NC_000001.11:209622551:G:T p.(Val895=) NC_000001.11:209622551:G:T Identity +NM_000214.3:c.2358C>T NP_000205.1:p.Cys786= NC_000020.11:10644370:G:A p.(Cys786=) NC_000020.11:10644370:G:A p.(Cys786=) NC_000020.11:10644370:G:A Identity +NM_000497.4:c.1422G>A NP_000488.3:p.Glu474= NC_000008.11:142874462:C:T p.(Glu474=) NC_000008.11:142874462:C:T p.(Glu474=) NC_000008.11:142874462:C:T Identity +NM_000548.5:c.2523C>G NP_000539.2:p.Val841= NC_000016.10:2074366:C:G p.(Val841=) NC_000016.10:2074366:C:G p.(Val841=) NC_000016.10:2074366:C:G Identity +NM_000127.3:c.1872T>C NP_000118.2:p.Ala624= NC_000008.11:117807227:A:G p.(Ala624=) NC_000008.11:117807227:A:G p.(Ala624=) NC_000008.11:117807227:A:G Identity +NM_015180.6:c.13263T>G NP_055995.4:p.Thr4421= NC_000014.9:64122115:T:G p.(Thr4421=) NC_000014.9:64122115:T:G p.(Thr4421=) NC_000014.9:64122115:T:G Identity +NM_001014794.3:c.1188C>A NP_001014794.1:p.Ser396= NC_000011.10:6610256:C:A p.(Ser396=) NC_000011.10:6610256:C:A p.(Ser396=) NC_000011.10:6610256:C:A Identity +NM_001193644.1:c.21C>T NP_001180573.1:p.Gly7= NC_000001.11:160285103:G:A p.(Gly7=) NC_000001.11:160285103:G:A p.(Gly7=) NC_000001.11:160285103:G:A Identity +NM_015384.5:c.5997T>C NP_056199.2:p.Ser1999= NC_000005.10:37038626:T:C p.(Ser1999=) NC_000005.10:37038626:T:C p.(Ser1999=) NC_000005.10:37038626:T:C Identity +NM_000286.3:c.210C>G NP_000277.1:p.Leu70= NC_000017.11:35577507:G:C p.(Leu70=) NC_000017.11:35577507:G:C p.(Leu70=) NC_000017.11:35577507:G:C Identity +NM_001164097.2:c.3810A>T NP_001157569.1:p.Gly1270= NC_000005.10:83539773:A:T p.(Gly1270=) NC_000005.10:83539773:A:T p.(Gly1270=) NC_000005.10:83539773:A:T Identity +NM_001164098.2:c.1380C>A NP_001157570.1:p.Leu460= NC_000005.10:83519685:C:A p.(Leu460=) NC_000005.10:83519685:C:A p.(Leu460=) NC_000005.10:83519685:C:A Identity +NM_004423.4:c.1662G>C NP_004414.3:p.Pro554= NC_000003.12:184170168:G:C p.(Pro554=) NC_000003.12:184170168:G:C p.(Pro554=) NC_000003.12:184170168:G:C Identity +NM_000540.3:c.5577G>T NP_000531.2:p.Val1859= NC_000019.10:38489205:G:T p.(Val1859=) NC_000019.10:38489205:G:T p.(Val1859=) NC_000019.10:38489205:G:T Identity +NM_000080.4:c.183C>T NP_000071.1:p.Ile61= NC_000017.11:4902626:G:A p.(Ile61=) NC_000017.11:4902626:G:A p.(Ile61=) NC_000017.11:4902626:G:A Identity +NM_001036.6:c.1290C>T NP_001027.3:p.Ala430= NC_000015.10:33579996:C:T p.(Ala430=) NC_000015.10:33579996:C:T p.(Ala430=) NC_000015.10:33579996:C:T Identity +NM_001082575.3:c.657C>T NP_001076044.1:p.Ala219= NC_000017.11:79097389:G:A p.(Ala219=) NC_000017.11:79097389:G:A p.(Ala219=) NC_000017.11:79097389:G:A Identity +NM_001111125.3:c.1791G>A NP_001104595.1:p.Glu597= NC_000023.11:53250784:C:T p.(Glu597=) NC_000023.11:53250784:C:T p.(Glu597=) NC_000023.11:53250784:C:T Identity +NM_006269.2:c.1998A>G NP_006260.1:p.Ser666= NC_000008.11:54625879:A:G p.(Ser666=) NC_000008.11:54625879:A:G p.(Ser666=) NC_000008.11:54625879:A:G Identity +NM_017617.5:c.7401G>A NP_060087.3:p.Ser2467= NC_000009.12:136496337:C:T p.(Ser2467=) NC_000009.12:136496337:C:T p.(Ser2467=) NC_000009.12:136496337:C:T Identity +NM_001382361.1:c.1821C>T NP_001369290.1:p.Ile607= NC_000011.10:64223320:C:T p.(Ile607=) NC_000011.10:64223320:C:T p.(Ile607=) NC_000011.10:64223320:C:T Identity +NM_005249.5:c.699G>T NP_005240.3:p.Leu233= NC_000014.9:28767977:G:T p.(Leu233=) NC_000014.9:28767977:G:T p.(Leu233=) NC_000014.9:28767977:G:T Identity +NM_001621.5:c.1192C>A NP_001612.1:p.Arg398= NC_000007.14:17339016:C:A p.(Arg398=) NC_000007.14:17339016:C:A p.(Arg398=) NC_000007.14:17339016:C:A Identity +NM_001256849.1:c.2412C>T NP_001243778.1:p.Ile804= NC_000019.10:50414837:C:T p.(Ile804=) NC_000019.10:50414837:C:T p.(Ile804=) NC_000019.10:50414837:C:T Identity +NM_001195263.2:c.1812G>T NP_001182192.1:p.Pro604= NC_000010.11:101012195:C:A p.(Pro604=) NC_000010.11:101012195:C:A p.(Pro604=) NC_000010.11:101012195:C:A Identity +NM_001291902.2:c.1164C>T NP_001278831.1:p.Leu388= NC_000011.10:68416406:C:T p.(Leu388=) NC_000011.10:68416406:C:T p.(Leu388=) NC_000011.10:68416406:C:T Identity +NM_001130455.2:c.2151C>T NP_001123927.1:p.Leu717= NC_000002.12:71556056:C:T p.(Leu717=) NC_000002.12:71556056:C:T p.(Leu717=) NC_000002.12:71556056:C:T Identity +NM_000540.3:c.13062G>T NP_000531.2:p.Ala4354= NC_000019.10:38565395:G:T p.(Ala4354=) NC_000019.10:38565395:G:T p.(Ala4354=) NC_000019.10:38565395:G:T Identity +NM_000260.4:c.2196T>C NP_000251.3:p.His732= NC_000011.10:77177556:T:C p.(His732=) NC_000011.10:77177556:T:C p.(His732=) NC_000011.10:77177556:T:C Identity +NM_000188.3:c.1803G>A NP_000179.2:p.Thr601= NC_000010.11:69384878:G:A p.(Thr601=) NC_000010.11:69384878:G:A p.(Thr601=) NC_000010.11:69384878:G:A Identity +NM_001354263.2:c.2817C>T NP_001341192.1:p.Ala939= NC_000009.12:137811585:C:T p.(Ala939=) NC_000009.12:137811585:C:T p.(Ala939=) NC_000009.12:137811585:C:T Identity +NM_003373.4:c.129C>T NP_003364.1:p.Pro43= NC_000010.11:73998335:C:T p.(Pro43=) NC_000010.11:73998335:C:T p.(Pro43=) NC_000010.11:73998335:C:T Identity +NM_032888.4:c.4092G>C NP_116277.2:p.Gly1364= NC_000009.12:114288748:G:C p.(Gly1364=) NC_000009.12:114288748:G:C p.(Gly1364=) NC_000009.12:114288748:G:C Identity +NM_000228.3:c.2280A>C NP_000219.2:p.Gly760= NC_000001.11:209623582:T:G p.(Gly760=) NC_000001.11:209623582:T:G p.(Gly760=) NC_000001.11:209623582:T:G Identity +NM_001621.5:c.270C>T NP_001612.1:p.Ser90= NC_000007.14:17322516:C:T p.(Ser90=) NC_000007.14:17322516:C:T p.(Ser90=) NC_000007.14:17322516:C:T Identity +NM_001316690.1:c.297G>A NP_001303619.1:p.Ala99= NC_000008.11:60741728:G:A p.(Ala99=) NC_000008.11:60741728:G:A p.(Ala99=) NC_000008.11:60741728:G:A Identity +NM_001280557.2:c.237C>T NP_001267486.1:p.Leu79= NC_000008.11:144412842:G:A p.(Leu79=) NC_000008.11:144412842:G:A p.(Leu79=) NC_000008.11:144412842:G:A Identity +NM_004104.5:c.5031G>C NP_004095.4:p.Ser1677= NC_000017.11:82084041:C:G p.(Ser1677=) NC_000017.11:82084041:C:G p.(Ser1677=) NC_000017.11:82084041:C:G Identity +NM_001127493.3:c.765A>G NP_001120965.1:p.Arg255= NC_000004.12:113242145:A:G p.(Arg255=) NC_000004.12:113242145:A:G p.(Arg255=) NC_000004.12:113242145:A:G Identity +NM_207391.3:c.612G>C NP_997274.2:p.Gly204= NC_000019.10:32676874:G:C p.(Gly204=) NC_000019.10:32676874:G:C p.(Gly204=) NC_000019.10:32676874:G:C Identity +NM_005458.8:c.1644C>T NP_005449.5:p.Thr548= NC_000009.12:98385657:G:A p.(Thr548=) NC_000009.12:98385657:G:A p.(Thr548=) NC_000009.12:98385657:G:A Identity +NM_001166108.2:c.3069A>G NP_001159580.1:p.Ala1023= NC_000004.12:168924264:A:G p.(Ala1023=) NC_000004.12:168924264:A:G p.(Ala1023=) NC_000004.12:168924264:A:G Identity +NM_004975.4:c.1410G>A NP_004966.1:p.Glu470= NC_000020.11:49374149:C:T p.(Glu470=) NC_000020.11:49374149:C:T p.(Glu470=) NC_000020.11:49374149:C:T Identity +NM_016097.5:c.231A>G NP_057181.1:p.Leu77= NC_000018.10:47156194:T:C p.(Leu77=) NC_000018.10:47156194:T:C p.(Leu77=) NC_000018.10:47156194:T:C Identity +NM_138694.4:c.10503T>C NP_619639.3:p.His3501= NC_000006.12:51659622:A:G p.(His3501=) NC_000006.12:51659622:A:G p.(His3501=) NC_000006.12:51659622:A:G Identity +NM_001105243.2:c.810C>T NP_001098713.1:p.Asn270= NC_000023.11:100407787:G:A p.(Asn270=) NC_000023.11:100407787:G:A p.(Asn270=) NC_000023.11:100407787:G:A Identity +NM_001195263.2:c.300C>T NP_001182192.1:p.Ser100= NC_000010.11:101023994:G:A p.(Ser100=) NC_000010.11:101023994:G:A p.(Ser100=) NC_000010.11:101023994:G:A Identity +NM_030957.4:c.408T>C NP_112219.3:p.His136= NC_000019.10:8605038:A:G p.(His136=) NC_000019.10:8605038:A:G p.(His136=) NC_000019.10:8605038:A:G Identity +NM_001178075.2:c.504T>C NP_001171546.1:p.Asp168= NC_000007.14:97859318:A:G p.(Asp168=) NC_000007.14:97859318:A:G p.(Asp168=) NC_000007.14:97859318:A:G Identity +NM_001376.5:c.3420G>A NP_001367.2:p.Thr1140= NC_000014.9:101995071:G:A p.(Thr1140=) NC_000014.9:101995071:G:A p.(Thr1140=) NC_000014.9:101995071:G:A Identity +NM_000535.7:c.1827G>A NP_000526.2:p.Val609= NC_000007.14:5986937:C:T p.(Val609=) NC_000007.14:5986937:C:T p.(Val609=) NC_000007.14:5986937:C:T Identity +NM_000925.4:c.33C>T NP_000916.2:p.Pro11= NC_000003.12:58433776:G:A p.(Pro11=) NC_000003.12:58433776:G:A p.(Pro11=) NC_000003.12:58433776:G:A Identity +NM_001365999.1:c.5872C>A NP_001352928.1:p.Arg1958= NC_000001.11:43434452:C:A p.(Arg1958=) NC_000001.11:43434452:C:A p.(Arg1958=) NC_000001.11:43434452:C:A Identity +NM_000092.5:c.2367A>G NP_000083.3:p.Gly789= NC_000002.12:227059420:T:C p.(Gly789=) NC_000002.12:227059420:T:C p.(Gly789=) NC_000002.12:227059420:T:C Identity +NM_001201459.2:c.705G>A NP_001188388.1:p.Glu235= NC_000002.12:27378279:C:T p.(Glu235=) NC_000002.12:27378279:C:T p.(Glu235=) NC_000002.12:27378279:C:T Identity +NM_014003.4:c.1048A>C NP_054722.2:p.Arg350= NC_000016.10:72099818:A:C p.(Arg350=) NC_000016.10:72099818:A:C p.(Arg350=) NC_000016.10:72099818:A:C Identity +NM_001301237.2:c.1266T>C NP_001288166.1:p.Ser422= NC_000001.11:41010202:T:C p.(Ser422=) NC_000001.11:41010202:T:C p.(Ser422=) NC_000001.11:41010202:T:C Identity +NM_001278237.2:c.348C>T NP_001265166.1:p.Leu116= NC_000012.12:63808887:C:T p.(Leu116=) NC_000012.12:63808887:C:T p.(Leu116=) NC_000012.12:63808887:C:T Identity +NM_001014431.2:c.1011G>A NP_001014431.1:p.Val337= NC_000014.9:104773038:C:T p.(Val337=) NC_000014.9:104773038:C:T p.(Val337=) NC_000014.9:104773038:C:T Identity +NM_001105243.2:c.795A>T NP_001098713.1:p.Pro265= NC_000023.11:100407802:T:A p.(Pro265=) NC_000023.11:100407802:T:A p.(Pro265=) NC_000023.11:100407802:T:A Identity +NM_001365999.1:c.252C>T NP_001352928.1:p.Ser84= NC_000001.11:43403698:C:T p.(Ser84=) NC_000001.11:43403698:C:T p.(Ser84=) NC_000001.11:43403698:C:T Identity +NM_000593.6:c.2187C>T NP_000584.3:p.Leu729= NC_000006.12:32845638:G:A p.(Leu729=) NC_000006.12:32845638:G:A p.(Leu729=) NC_000006.12:32845638:G:A Identity +NM_000188.3:c.1317T>C NP_000179.2:p.Asp439= NC_000010.11:69382537:T:C p.(Asp439=) NC_000010.11:69382537:T:C p.(Asp439=) NC_000010.11:69382537:T:C Identity +NM_004484.4:c.1117T>C NP_004475.1:p.Leu373= NC_000023.11:133699943:A:G p.(Leu373=) NC_000023.11:133699943:A:G p.(Leu373=) NC_000023.11:133699943:A:G Identity +NM_173354.5:c.807C>T NP_775490.2:p.Ile269= NC_000021.9:43420398:G:A p.(Ile269=) NC_000021.9:43420398:G:A p.(Ile269=) NC_000021.9:43420398:G:A Identity +NM_000283.4:c.309G>A NP_000274.3:p.Val103= NC_000004.12:625934:G:A p.(Val103=) NC_000004.12:625934:G:A p.(Val103=) NC_000004.12:625934:G:A Identity +NM_000038.6:c.3780G>A NP_000029.2:p.Gln1260= NC_000005.10:112839373:G:A p.(Gln1260=) NC_000005.10:112839373:G:A p.(Gln1260=) NC_000005.10:112839373:G:A Identity +NM_021961.6:c.117C>T NP_068780.2:p.Ile39= NC_000011.10:12764348:C:T p.(Ile39=) NC_000011.10:12764348:C:T p.(Ile39=) NC_000011.10:12764348:C:T Identity +NM_001351508.2:c.846T>C NP_001338437.1:p.Tyr282= NC_000002.12:70215412:A:G p.(Tyr282=) NC_000002.12:70215412:A:G p.(Tyr282=) NC_000002.12:70215412:A:G Identity +NM_001184751.2:c.1221C>T NP_001171680.1:p.Asp407= NC_000011.10:46704944:C:T p.(Asp407=) NC_000011.10:46704944:C:T p.(Asp407=) NC_000011.10:46704944:C:T Identity +NM_000202.8:c.1536T>C NP_000193.1:p.Ala512= NC_000023.11:149482862:A:G p.(Ala512=) NC_000023.11:149482862:A:G p.(Ala512=) NC_000023.11:149482862:A:G Identity +NM_004369.4:c.8622G>A NP_004360.2:p.Thr2874= NC_000002.12:237336477:C:T p.(Thr2874=) NC_000002.12:237336477:C:T p.(Thr2874=) NC_000002.12:237336477:C:T Identity +NM_014141.6:c.3412C>T NP_054860.1:p.Leu1138= NC_000007.14:148267062:C:T p.(Leu1138=) NC_000007.14:148267062:C:T p.(Leu1138=) NC_000007.14:148267062:C:T Identity +NM_004268.5:c.99G>A NP_004259.3:p.Pro33= NC_000011.10:93784611:G:A p.(Pro33=) NC_000011.10:93784611:G:A p.(Pro33=) NC_000011.10:93784611:G:A Identity +NM_033118.4:c.1377C>A NP_149109.1:p.Ile459= NC_000020.11:31831093:C:A p.(Ile459=) NC_000020.11:31831093:C:A p.(Ile459=) NC_000020.11:31831093:C:A Identity +NM_014049.5:c.1236C>T NP_054768.2:p.Tyr412= NC_000003.12:128906206:C:T p.(Tyr412=) NC_000003.12:128906206:C:T p.(Tyr412=) NC_000003.12:128906206:C:T Identity +NM_000260.4:c.4089C>T NP_000251.3:p.Ala1363= NC_000011.10:77192214:C:T p.(Ala1363=) NC_000011.10:77192214:C:T p.(Ala1363=) NC_000011.10:77192214:C:T Identity +NM_000080.4:c.73C>T NP_000071.1:p.Leu25= NC_000017.11:4902736:G:A p.(Leu25=) NC_000017.11:4902736:G:A p.(Leu25=) NC_000017.11:4902736:G:A Identity +NM_001844.5:c.3237T>G NP_001835.3:p.Ala1079= NC_000012.12:47977355:A:C p.(Ala1079=) NC_000012.12:47977355:A:C p.(Ala1079=) NC_000012.12:47977355:A:C Identity +NM_001184.4:c.1062T>C NP_001175.2:p.Leu354= NC_000003.12:142562339:A:G p.(Leu354=) NC_000003.12:142562339:A:G p.(Leu354=) NC_000003.12:142562339:A:G Identity +NM_001168407.2:c.1767A>G NP_001161879.1:p.Arg589= NC_000006.12:72292002:A:G p.(Arg589=) NC_000006.12:72292002:A:G p.(Arg589=) NC_000006.12:72292002:A:G Identity +NM_001256267.2:c.3237T>C NP_001243196.1:p.Pro1079= NC_000010.11:68197429:T:C p.(Pro1079=) NC_000010.11:68197429:T:C p.(Pro1079=) NC_000010.11:68197429:T:C Identity +NM_000246.4:c.2046C>T NP_000237.2:p.Ser682= NC_000016.10:10907537:C:T p.(Ser682=) NC_000016.10:10907537:C:T p.(Ser682=) NC_000016.10:10907537:C:T Identity +NM_001376.5:c.6063C>A NP_001367.2:p.Gly2021= NC_000014.9:102009927:C:A p.(Gly2021=) NC_000014.9:102009927:C:A p.(Gly2021=) NC_000014.9:102009927:C:A Identity +NM_000118.4:c.1485G>A NP_000109.1:p.Leu495= NC_000009.12:127818320:C:T p.(Leu495=) NC_000009.12:127818320:C:T p.(Leu495=) NC_000009.12:127818320:C:T Identity +NM_014049.5:c.211T>C NP_054768.2:p.Leu71= NC_000003.12:128884712:T:C p.(Leu71=) NC_000003.12:128884712:T:C p.(Leu71=) NC_000003.12:128884712:T:C Identity +NM_001256789.3:c.2730A>G NP_001243718.1:p.Leu910= NC_000023.11:49218884:T:C p.(Leu910=) NC_000023.11:49218884:T:C p.(Leu910=) NC_000023.11:49218884:T:C Identity +NM_001242957.3:c.1647T>C NP_001229886.1:p.Phe549= NC_000006.12:10773058:A:G p.(Phe549=) NC_000006.12:10773058:A:G p.(Phe549=) NC_000006.12:10773058:A:G Identity +NM_003327.4:c.6C>T NP_003318.1:p.Cys2= NC_000001.11:1214121:G:A p.(Cys2=) NC_000001.11:1214121:G:A p.(Cys2=) NC_000001.11:1214121:G:A Identity +NM_001081640.2:c.3105A>G NP_001075109.1:p.Glu1035= NC_000008.11:47902732:T:C p.(Glu1035=) NC_000008.11:47902732:T:C p.(Glu1035=) NC_000008.11:47902732:T:C Identity +NM_006231.4:c.4863C>A NP_006222.2:p.Val1621= NC_000012.12:132642594:G:T p.(Val1621=) NC_000012.12:132642594:G:T p.(Val1621=) NC_000012.12:132642594:G:T Identity +NM_000548.5:c.1245G>C NP_000539.2:p.Ala415= NC_000016.10:2061995:G:C p.(Ala415=) NC_000016.10:2061995:G:C p.(Ala415=) NC_000016.10:2061995:G:C Identity +NM_000126.4:c.358T>C NP_000117.1:p.Leu120= NC_000015.10:76287938:A:G p.(Leu120=) NC_000015.10:76287938:A:G p.(Leu120=) NC_000015.10:76287938:A:G Identity +NM_020949.3:c.681C>T NP_066000.2:p.Phe227= NC_000003.12:170498744:G:A p.(Phe227=) NC_000003.12:170498744:G:A p.(Phe227=) NC_000003.12:170498744:G:A Identity +NM_000217.3:c.507C>T NP_000208.2:p.Ile169= NC_000012.12:4911884:C:T p.(Ile169=) NC_000012.12:4911884:C:T p.(Ile169=) NC_000012.12:4911884:C:T Identity +NM_000076.2:c.555TCCGGC[1] NP_000067.1:p.179AP[6] NC_000011.10:2884917:GCCGGAGCCGGAGCCGGAGCCGG:GCCGGAGCCGG p.(Ala191_Pro194del) NC_000011.10:2884934:A:GCCGGA ERR:Parse ERR:Parse Analogous +NM_032888.4:c.3972A>C NP_116277.2:p.Gly1324= NC_000009.12:114284761:A:C p.(Gly1324=) NC_000009.12:114284761:A:C p.(Gly1324=) NC_000009.12:114284761:A:C Identity +NM_001030311.3:c.54G>A NP_001025482.1:p.Glu18= NC_000002.12:181656952:C:T p.(Glu18=) NC_000002.12:181656952:C:T p.(Glu18=) NC_000002.12:181656952:C:T Identity +NM_001290020.2:c.1416G>A NP_001276949.1:p.Ala472= NC_000010.11:27944932:C:T p.(Ala472=) NC_000010.11:27944932:C:T p.(Ala472=) NC_000010.11:27944932:C:T Identity +NM_001030311.3:c.234G>A NP_001025482.1:p.Pro78= NC_000002.12:181656772:C:T p.(Pro78=) NC_000002.12:181656772:C:T p.(Pro78=) NC_000002.12:181656772:C:T Identity +NM_000751.3:c.27G>T NP_000742.1:p.Gly9= NC_000002.12:232526241:G:T p.(Gly9=) NC_000002.12:232526241:G:T p.(Gly9=) NC_000002.12:232526241:G:T Identity +NM_033118.4:c.1056G>A NP_149109.1:p.Pro352= NC_000020.11:31826687:G:A p.(Pro352=) NC_000020.11:31826687:G:A p.(Pro352=) NC_000020.11:31826687:G:A Identity +NM_001199427.2:c.507G>C NP_001186356.1:p.Ala169= NC_000014.9:102876461:G:C p.(Ala169=) NC_000014.9:102876461:G:C p.(Ala169=) NC_000014.9:102876461:G:C Identity +NM_001377456.1:c.975G>A NP_001364385.1:p.Arg325= NC_000016.10:56502421:C:T p.(Arg325=) NC_000016.10:56502421:C:T p.(Arg325=) NC_000016.10:56502421:C:T Identity +NM_001003722.2:c.210G>A NP_001003722.1:p.Ser70= NC_000009.12:128508985:G:A p.(Ser70=) NC_000009.12:128508985:G:A p.(Ser70=) NC_000009.12:128508985:G:A Identity +NM_000246.4:c.1593C>A NP_000237.2:p.Gly531= NC_000016.10:10907084:C:A p.(Gly531=) NC_000016.10:10907084:C:A p.(Gly531=) NC_000016.10:10907084:C:A Identity +NM_000626.4:c.372G>A NP_000617.1:p.Gln124= NC_000017.11:63930131:C:T p.(Gln124=) NC_000017.11:63930131:C:T p.(Gln124=) NC_000017.11:63930131:C:T Identity +NM_001386500.1:c.1176C>T NP_001373429.1:p.Ile392= NC_000001.11:11247673:G:A p.(Ile392=) NC_000001.11:11247673:G:A p.(Ile392=) NC_000001.11:11247673:G:A Identity +NM_004268.5:c.612C>T NP_004259.3:p.Leu204= NC_000011.10:93790767:C:T p.(Leu204=) NC_000011.10:93790767:C:T p.(Leu204=) NC_000011.10:93790767:C:T Identity +NM_000076.2:c.633C>A NP_000067.1:p.Ala211= NC_000011.10:2884856:G:T p.(Ala211=) NC_000011.10:2884856:G:T p.(Ala211=) NC_000011.10:2884856:G:T Identity +NM_006445.4:c.942T>A NP_006436.3:p.Ile314= NC_000017.11:1680978:A:T p.(Ile314=) NC_000017.11:1680978:A:T p.(Ile314=) NC_000017.11:1680978:A:T Identity +NM_000228.3:c.3030T>C NP_000219.2:p.Leu1010= NC_000001.11:209617927:A:G p.(Leu1010=) NC_000001.11:209617927:A:G p.(Leu1010=) NC_000001.11:209617927:A:G Identity +NM_000572.3:c.375C>A NP_000563.1:p.Arg125= NC_000001.11:206770909:G:T p.(Arg125=) NC_000001.11:206770909:G:T p.(Arg125=) NC_000001.11:206770909:G:T Identity +NM_001130955.2:c.1788C>T NP_001124427.2:p.Tyr596= NC_000019.10:7462212:C:T p.(Tyr596=) NC_000019.10:7462212:C:T p.(Tyr596=) NC_000019.10:7462212:C:T Identity +NM_000362.5:c.576C>T NP_000353.1:p.Cys192= NC_000022.11:32859316:C:T p.(Cys192=) NC_000022.11:32859316:C:T p.(Cys192=) NC_000022.11:32859316:C:T Identity +NM_001023570.4:c.1689C>T NP_001018864.2:p.Pro563= NC_000003.12:121770452:G:A p.(Pro563=) NC_000003.12:121770452:G:A p.(Pro563=) NC_000003.12:121770452:G:A Identity +NM_001036.6:c.14475G>A NP_001027.3:p.Leu4825= NC_000015.10:33864146:G:A p.(Leu4825=) NC_000015.10:33864146:G:A p.(Leu4825=) NC_000015.10:33864146:G:A Identity +NM_001127671.2:c.474C>T NP_001121143.1:p.Asn158= NC_000005.10:38523505:G:A p.(Asn158=) NC_000005.10:38523505:G:A p.(Asn158=) NC_000005.10:38523505:G:A Identity +NM_001146702.2:c.2136G>A NP_001140174.1:p.Val712= NC_000023.11:53198794:C:T p.(Val712=) NC_000023.11:53198794:C:T p.(Val712=) NC_000023.11:53198794:C:T Identity +NM_001347249.2:c.603G>A NP_001334178.1:p.Thr201= NC_000015.10:51222373:C:T p.(Thr201=) NC_000015.10:51222373:C:T p.(Thr201=) NC_000015.10:51222373:C:T Identity +NM_001042494.2:c.1992G>A NP_001035959.1:p.Glu664= NC_000015.10:34241330:C:T p.(Glu664=) NC_000015.10:34241330:C:T p.(Glu664=) NC_000015.10:34241330:C:T Identity +NM_001304420.3:c.2436A>G NP_001291349.1:p.Ala812= NC_000003.12:57927336:A:G p.(Ala812=) NC_000003.12:57927336:A:G p.(Ala812=) NC_000003.12:57927336:A:G Identity +NM_001377456.1:c.1632G>T NP_001364385.1:p.Leu544= NC_000016.10:56498463:C:A p.(Leu544=) NC_000016.10:56498463:C:A p.(Leu544=) NC_000016.10:56498463:C:A Identity +NM_001145527.2:c.228C>T NP_001138999.1:p.Ser76= NC_000009.12:137716767:C:T p.(Ser76=) NC_000009.12:137716767:C:T p.(Ser76=) NC_000009.12:137716767:C:T Identity +NM_001301076.3:c.384G>A NP_001288005.1:p.Thr128= NC_000019.10:46838539:C:T p.(Thr128=) NC_000019.10:46838539:C:T p.(Thr128=) NC_000019.10:46838539:C:T Identity +NM_001346899.2:c.3441T>C NP_001333828.1:p.Ala1147= NC_000007.14:55205559:T:C p.(Ala1147=) NC_000007.14:55205559:T:C p.(Ala1147=) NC_000007.14:55205559:T:C Identity +NM_006231.4:c.2202C>A NP_006222.2:p.Ile734= NC_000012.12:132667619:G:T p.(Ile734=) NC_000012.12:132667619:G:T p.(Ile734=) NC_000012.12:132667619:G:T Identity +NM_002335.4:c.375G>A NP_002326.2:p.Thr125= NC_000011.10:68348129:G:A p.(Thr125=) NC_000011.10:68348129:G:A p.(Thr125=) NC_000011.10:68348129:G:A Identity +NM_000527.5:c.2520C>T NP_000518.1:p.His840= NC_000019.10:11129642:C:T p.(His840=) NC_000019.10:11129642:C:T p.(His840=) NC_000019.10:11129642:C:T Identity +NM_001365999.1:c.4590G>A NP_001352928.1:p.Ser1530= NC_000001.11:43430604:G:A p.(Ser1530=) NC_000001.11:43430604:G:A p.(Ser1530=) NC_000001.11:43430604:G:A Identity +NM_144670.6:c.1020A>G NP_653271.3:p.Gly340= NC_000012.12:8839161:A:G p.(Gly340=) NC_000012.12:8839161:A:G p.(Gly340=) NC_000012.12:8839161:A:G Identity +NM_000038.6:c.3849T>C NP_000029.2:p.Ala1283= NC_000005.10:112839442:T:C p.(Ala1283=) NC_000005.10:112839442:T:C p.(Ala1283=) NC_000005.10:112839442:T:C Identity +NM_001256213.2:c.96C>T NP_001243142.1:p.Asp32= NC_000019.10:41988505:G:A p.(Asp32=) NC_000019.10:41988505:G:A p.(Asp32=) NC_000019.10:41988505:G:A Identity +NM_001012720.2:c.273C>T NP_001012738.1:p.His91= NC_000010.11:84248957:C:T p.(His91=) NC_000010.11:84248957:C:T p.(His91=) NC_000010.11:84248957:C:T Identity +NM_000246.4:c.798A>G NP_000237.2:p.Val266= NC_000016.10:10903755:A:G p.(Val266=) NC_000016.10:10903755:A:G p.(Val266=) NC_000016.10:10903755:A:G Identity +NM_000497.4:c.450G>T NP_000488.3:p.Ser150= NC_000008.11:142877167:C:A p.(Ser150=) NC_000008.11:142877167:C:A p.(Ser150=) NC_000008.11:142877167:C:A Identity +NM_001077350.3:c.153G>A NP_001070818.1:p.Thr51= NC_000016.10:130556:C:T p.(Thr51=) NC_000016.10:130556:C:T p.(Thr51=) NC_000016.10:130556:C:T Identity +NM_001015051.4:c.945C>A NP_001015051.3:p.Ile315= NC_000006.12:45512330:C:A p.(Ile315=) NC_000006.12:45512330:C:A p.(Ile315=) NC_000006.12:45512330:C:A Identity +NM_000748.3:c.1146A>G NP_000739.1:p.Pro382= NC_000001.11:154571968:A:G p.(Pro382=) NC_000001.11:154571968:A:G p.(Pro382=) NC_000001.11:154571968:A:G Identity +NM_000489.6:c.1968C>G NP_000480.3:p.Ser656= NC_000023.11:77683287:G:C p.(Ser656=) NC_000023.11:77683287:G:C p.(Ser656=) NC_000023.11:77683287:G:C Identity +NM_145290.4:c.2451C>T NP_660333.2:p.Thr817= NC_000004.12:22401460:G:A p.(Thr817=) NC_000004.12:22401460:G:A p.(Thr817=) NC_000004.12:22401460:G:A Identity +NM_145290.4:c.3231C>T NP_660333.2:p.Pro1077= NC_000004.12:22388439:G:A p.(Pro1077=) NC_000004.12:22388439:G:A p.(Pro1077=) NC_000004.12:22388439:G:A Identity +NM_001002019.3:c.477G>A NP_001002019.1:p.Thr159= NC_000012.12:131941307:G:A p.(Thr159=) NC_000012.12:131941307:G:A p.(Thr159=) NC_000012.12:131941307:G:A Identity +NM_001164097.2:c.2481A>G NP_001157569.1:p.Gln827= NC_000005.10:83538444:A:G p.(Gln827=) NC_000005.10:83538444:A:G p.(Gln827=) NC_000005.10:83538444:A:G Identity +NM_003098.3:c.225G>A NP_003089.1:p.Pro75= NC_000020.11:33443395:C:T p.(Pro75=) NC_000020.11:33443395:C:T p.(Pro75=) NC_000020.11:33443395:C:T Identity +NM_000237.3:c.744T>C NP_000228.1:p.Ala248= NC_000008.11:19954321:T:C p.(Ala248=) NC_000008.11:19954321:T:C p.(Ala248=) NC_000008.11:19954321:T:C Identity +NM_000283.4:c.801C>T NP_000274.3:p.Tyr267= NC_000004.12:653940:C:T p.(Tyr267=) NC_000004.12:653940:C:T p.(Tyr267=) NC_000004.12:653940:C:T Identity +NM_001165966.2:c.2088G>A NP_001159438.1:p.Leu696= NC_000017.11:6463841:C:T p.(Leu696=) NC_000017.11:6463841:C:T p.(Leu696=) NC_000017.11:6463841:C:T Identity +NM_000022.4:c.216C>T NP_000013.2:p.Ile72= NC_000020.11:44629048:G:A p.(Ile72=) NC_000020.11:44629048:G:A p.(Ile72=) NC_000020.11:44629048:G:A Identity +NM_001136029.4:c.4440C>T NP_001129501.1:p.Ala1480= NC_000022.11:31906013:C:T p.(Ala1480=) NC_000022.11:31906013:C:T p.(Ala1480=) NC_000022.11:31906013:C:T Identity +NM_001271620.2:c.3300G>A NP_001258549.1:p.Ser1100= NC_000016.10:49635671:C:T p.(Ser1100=) NC_000016.10:49635671:C:T p.(Ser1100=) NC_000016.10:49635671:C:T Identity +NM_138694.4:c.2670A>G NP_619639.3:p.Gly890= NC_000006.12:52045010:T:C p.(Gly890=) NC_000006.12:52045010:T:C p.(Gly890=) NC_000006.12:52045010:T:C Identity +NM_000260.4:c.4269G>A NP_000251.3:p.Thr1423= NC_000011.10:77194469:G:A p.(Thr1423=) NC_000011.10:77194469:G:A p.(Thr1423=) NC_000011.10:77194469:G:A Identity +NM_001128844.3:c.189G>C NP_001122316.1:p.Gly63= NC_000019.10:10984339:G:C p.(Gly63=) NC_000019.10:10984339:G:C p.(Gly63=) NC_000019.10:10984339:G:C Identity +NM_001783.4:c.327G>A NP_001774.1:p.Gln109= NC_000019.10:41879236:G:A p.(Gln109=) NC_000019.10:41879236:G:A p.(Gln109=) NC_000019.10:41879236:G:A Identity +NM_006876.3:c.363C>G NP_006867.1:p.Ser121= NC_000011.10:66347182:G:C p.(Ser121=) NC_000011.10:66347182:G:C p.(Ser121=) NC_000011.10:66347182:G:C Identity +NM_000489.6:c.3324A>G NP_000480.3:p.Ser1108= NC_000023.11:77681931:T:C p.(Ser1108=) NC_000023.11:77681931:T:C p.(Ser1108=) NC_000023.11:77681931:T:C Identity +NM_001256213.2:c.417C>T NP_001243142.1:p.Ala139= NC_000019.10:41986202:G:A p.(Ala139=) NC_000019.10:41986202:G:A p.(Ala139=) NC_000019.10:41986202:G:A Identity +NM_000548.5:c.2805C>G NP_000539.2:p.Ala935= NC_000016.10:2076552:C:G p.(Ala935=) NC_000016.10:2076552:C:G p.(Ala935=) NC_000016.10:2076552:C:G Identity +NM_020949.3:c.1299T>G NP_066000.2:p.Pro433= NC_000003.12:170480982:A:C p.(Pro433=) NC_000003.12:170480982:A:C p.(Pro433=) NC_000003.12:170480982:A:C Identity +NM_001346897.2:c.1371A>G NP_001333826.1:p.Thr457= NC_000007.14:55161505:A:G p.(Thr457=) NC_000007.14:55161505:A:G p.(Thr457=) NC_000007.14:55161505:A:G Identity +NM_001244710.2:c.1984T>C NP_001231639.1:p.Leu662= NC_000002.12:69326984:A:G p.(Leu662=) NC_000002.12:69326984:A:G p.(Leu662=) NC_000002.12:69326984:A:G Identity +NM_000076.2:c.210G>A NP_000067.1:p.Pro70= NC_000011.10:2885279:C:T p.(Pro70=) NC_000011.10:2885279:C:T p.(Pro70=) NC_000011.10:2885279:C:T Identity +NM_000548.5:c.3330C>T NP_000539.2:p.Ala1110= NC_000016.10:2079601:C:T p.(Ala1110=) NC_000016.10:2079601:C:T p.(Ala1110=) NC_000016.10:2079601:C:T Identity +NM_001844.5:c.4203C>T NP_001835.3:p.Asp1401= NC_000012.12:47974202:G:A p.(Asp1401=) NC_000012.12:47974202:G:A p.(Asp1401=) NC_000012.12:47974202:G:A Identity +NM_001130823.3:c.2922C>G NP_001124295.1:p.Arg974= NC_000019.10:10143959:G:C p.(Arg974=) NC_000019.10:10143959:G:C p.(Arg974=) NC_000019.10:10143959:G:C Identity +NM_000440.3:c.1434G>A NP_000431.2:p.Glu478= NC_000005.10:149896749:C:T p.(Glu478=) NC_000005.10:149896749:C:T p.(Glu478=) NC_000005.10:149896749:C:T Identity +NM_001849.4:c.1302C>T NP_001840.3:p.Ser434= NC_000021.9:46119819:C:T p.(Ser434=) NC_000021.9:46119819:C:T p.(Ser434=) NC_000021.9:46119819:C:T Identity +NM_005477.3:c.579C>G NP_005468.1:p.Gly193= NC_000015.10:73367691:G:C p.(Gly193=) NC_000015.10:73367691:G:C p.(Gly193=) NC_000015.10:73367691:G:C Identity +NM_000202.8:c.576C>T NP_000193.1:p.Pro192= NC_000023.11:149498238:G:A p.(Pro192=) NC_000023.11:149498238:G:A p.(Pro192=) NC_000023.11:149498238:G:A Identity +NM_000252.3:c.1591T>C NP_000243.1:p.Leu531= NC_000023.11:150663555:T:C p.(Leu531=) NC_000023.11:150663555:T:C p.(Leu531=) NC_000023.11:150663555:T:C Identity +NM_000350.3:c.1986A>G NP_000341.2:p.Ala662= NC_000001.11:94060710:T:C p.(Ala662=) NC_000001.11:94060710:T:C p.(Ala662=) NC_000001.11:94060710:T:C Identity +NM_001692.4:c.1044C>T NP_001683.2:p.Leu348= NC_000002.12:70963295:C:T p.(Leu348=) NC_000002.12:70963295:C:T p.(Leu348=) NC_000002.12:70963295:C:T Identity +NM_006231.4:c.6831G>A NP_006222.2:p.Leu2277= NC_000012.12:132624726:C:T p.(Leu2277=) NC_000012.12:132624726:C:T p.(Leu2277=) NC_000012.12:132624726:C:T Identity +NM_000441.2:c.258T>C NP_000432.1:p.Ser86= NC_000007.14:107663388:T:C p.(Ser86=) NC_000007.14:107663388:T:C p.(Ser86=) NC_000007.14:107663388:T:C Identity +NM_016247.4:c.2922C>T NP_057331.2:p.Asn974= NC_000003.12:101242787:G:A p.(Asn974=) NC_000003.12:101242787:G:A p.(Asn974=) NC_000003.12:101242787:G:A Identity +NM_006361.6:c.657A>G NP_006352.2:p.Lys219= NC_000017.11:48726987:T:C p.(Lys219=) NC_000017.11:48726987:T:C p.(Lys219=) NC_000017.11:48726987:T:C Identity +NM_001849.4:c.1797G>A NP_001840.3:p.Arg599= NC_000021.9:46125291:G:A p.(Arg599=) NC_000021.9:46125291:G:A p.(Arg599=) NC_000021.9:46125291:G:A Identity +NM_017617.5:c.1215G>A NP_060087.3:p.Thr405= NC_000009.12:136518176:C:T p.(Thr405=) NC_000009.12:136518176:C:T p.(Thr405=) NC_000009.12:136518176:C:T Identity +NM_000206.3:c.75G>A NP_000197.1:p.Thr25= NC_000023.11:71111464:C:T p.(Thr25=) NC_000023.11:71111464:C:T p.(Thr25=) NC_000023.11:71111464:C:T Identity +NM_000497.4:c.1158G>A NP_000488.3:p.Ala386= NC_000008.11:142875275:C:T p.(Ala386=) NC_000008.11:142875275:C:T p.(Ala386=) NC_000008.11:142875275:C:T Identity +NM_001379500.1:c.2982G>C NP_001366429.1:p.Gly994= NC_000021.9:45505246:G:C p.(Gly994=) NC_000021.9:45505246:G:C p.(Gly994=) NC_000021.9:45505246:G:C Identity +NM_001178010.2:c.1644G>A NP_001171481.1:p.Ser548= NC_000022.11:19516633:G:A p.(Ser548=) NC_000022.11:19516633:G:A p.(Ser548=) NC_000022.11:19516633:G:A Identity +NM_003823.4:c.642C>T NP_003814.1:p.Ala214= NC_000020.11:63698301:C:T p.(Ala214=) NC_000020.11:63698301:C:T p.(Ala214=) NC_000020.11:63698301:C:T Identity +NM_000349.3:c.189= NP_000340.2:p.Leu63= NC_000008.11:38148316:C:C p.(Leu63=) NC_000008.11:38148316:C: p.(Leu63=) NC_000008.11:38148316:C:C Identity +NM_000527.5:c.711C>T NP_000518.1:p.Arg237= NC_000019.10:11106580:C:T p.(Arg237=) NC_000019.10:11106580:C:T p.(Arg237=) NC_000019.10:11106580:C:T Identity +NM_001190709.2:c.4644A>G NP_001177638.1:p.Lys1548= NC_000001.11:102886903:T:C p.(Lys1548=) NC_000001.11:102886903:T:C p.(Lys1548=) NC_000001.11:102886903:T:C Identity +NM_001367624.2:c.10605C>G NP_001354553.1:p.Thr3535= NC_000016.10:88438074:C:G p.(Thr3535=) NC_000016.10:88438074:C:G p.(Thr3535=) NC_000016.10:88438074:C:G Identity +NM_001376.5:c.1878G>A NP_001367.2:p.Gln626= NC_000014.9:101986102:G:A p.(Gln626=) NC_000014.9:101986102:G:A p.(Gln626=) NC_000014.9:101986102:G:A Identity +NM_001134673.4:c.1113G>A NP_001128145.1:p.Pro371= NC_000001.11:61404140:G:A p.(Pro371=) NC_000001.11:61404140:G:A p.(Pro371=) NC_000001.11:61404140:G:A Identity +NM_001367624.2:c.3300G>A NP_001354553.1:p.Glu1100= NC_000016.10:88430769:G:A p.(Glu1100=) NC_000016.10:88430769:G:A p.(Glu1100=) NC_000016.10:88430769:G:A Identity +NM_005654.6:c.756A>G NP_005645.1:p.Leu252= NC_000005.10:93588208:A:G p.(Leu252=) NC_000005.10:93588208:A:G p.(Leu252=) NC_000005.10:93588208:A:G Identity +NM_002156.5:c.1701_1712del NP_002147.2:p.565GGGM[1] NC_000002.12:197487055:CCACCTCCCATACCACCTCCCAT:CCACCTCCCAT p.(Gly569_Met572del) NC_000002.12:197487055:CCACCTCCCATACCACCTCCCAT:CCACCTCCCAT p.(Gly569_Met572del) NC_000002.12:197487055:CCACCTCCCATA: Analogous +NM_001289123.2:c.915C>T NP_001276052.1:p.Ala305= NC_000019.10:6495736:G:A p.(Ala305=) NC_000019.10:6495736:G:A p.(Ala305=) NC_000019.10:6495736:G:A Identity +NM_001278463.2:c.198A>G NP_001265392.1:p.Gln66= NC_000012.12:32701509:A:G p.(Gln66=) NC_000012.12:32701509:A:G p.(Gln66=) NC_000012.12:32701509:A:G Identity +NM_001853.4:c.183G>A NP_001844.3:p.Pro61= NC_000020.11:62818552:G:A p.(Pro61=) NC_000020.11:62818552:G:A p.(Pro61=) NC_000020.11:62818552:G:A Identity +NM_001257291.2:c.1827C>T NP_001244220.1:p.Tyr609= NC_000023.11:46613390:G:A p.(Tyr609=) NC_000023.11:46613390:G:A p.(Tyr609=) NC_000023.11:46613390:G:A Identity +NM_020699.4:c.900G>A NP_065750.1:p.Pro300= NC_000001.11:153817371:C:T p.(Pro300=) NC_000001.11:153817371:C:T p.(Pro300=) NC_000001.11:153817371:C:T Identity +NM_003482.4:c.6501G>A NP_003473.3:p.Val2167= NC_000012.12:49041268:C:T p.(Val2167=) NC_000012.12:49041268:C:T p.(Val2167=) NC_000012.12:49041268:C:T Identity +NM_001267722.2:c.822C>T NP_001254651.1:p.Pro274= NC_000004.12:56484782:C:T p.(Pro274=) NC_000004.12:56484782:C:T p.(Pro274=) NC_000004.12:56484782:C:T Identity +NM_001364858.1:c.1197C>T NP_001351787.1:p.Ala399= NC_000007.14:4788908:C:T p.(Ala399=) NC_000007.14:4788908:C:T p.(Ala399=) NC_000007.14:4788908:C:T Identity +NM_000245.4:c.1995A>G NP_000236.2:p.Lys665= NC_000007.14:116757666:A:G p.(Lys665=) NC_000007.14:116757666:A:G p.(Lys665=) NC_000007.14:116757666:A:G Identity +NM_030665.4:c.383_388del NP_109590.3:p.Pro128_Pro129del NC_000017.11:17793326:CCACCCCCAC:CCAC p.(Pro128_Pro129del) NC_000017.11:17793326:CCACCCCCAC:CCAC p.(Pro128_Pro129del) NC_000017.11:17793330:CCCCAC: Identity +NM_024795.4:c.598_606del NP_079071.2:p.Ile200_Glu202del NC_000002.12:227363807:CTCCAGAAT: p.(Ile200_Glu202del) NC_000002.12:227363807:CTCCAGAAT: p.(Ile200_Glu202del) NC_000002.12:227363807:CTCCAGAAT: Identity +NM_000283.4:c.609CGAAGA[1] NP_000274.3:p.204ED[1] NC_000004.12:634816:CGAAGACGAAGA:CGAAGA p.(Glu206_Asp207del) NC_000004.12:634816:C:CGAAGA ERR:Parse ERR:Parse Analogous +NM_001167614.2:c.216_254dup NP_001161086.1:p.Thr75_Ala87dup NC_000012.12:65169807:CGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGC:CGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGC p.(Thr75_Ala87dup) NC_000012.12:65169807:CGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGC:CGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGCAGCCGCCACGGTCGCAGCCGCGGGACCAGCGGCGGCGGC p.(Thr75_Ala87dup) ERR:SPDI Identity +NM_001145138.2:c.1128GGCCCC[3] NP_001138610.1:p.377AP[3] NC_000011.10:65654885:GGGGCCGGGGCC:GGGGCCGGGGCCGGGGCC p.(Ala379_Pro380dup) NC_000011.10:65654896:C:GGGGCCGGGGCCGGGGCC ERR:Parse ERR:Parse Analogous +NM_001077653.2:c.711_713dup NP_001071121.1:p.Lys237_Asp238insGlu NC_000007.14:35240978:TCTT:TCTTCTT p.(Lys237_Asp238insGlu) NC_000007.14:35240978:TCTT:TCTTCTT p.(Lys237_Asp238insGlu) ERR:SPDI Identity +NM_000038.6:c.1848G>A NP_000029.2:p.Leu616= NC_000005.10:112835054:G:A p.(Leu616=) NC_000005.10:112835054:G:A p.(Leu616=) NC_000005.10:112835054:G:A Identity +NM_015295.3:c.3339A>G NP_056110.2:p.Gln1113= NC_000018.10:2738458:A:G p.(Gln1113=) NC_000018.10:2738458:A:G p.(Gln1113=) NC_000018.10:2738458:A:G Identity +NM_005914.4:c.1800G>A NP_005905.2:p.Lys600= NC_000008.11:47970875:G:A p.(Lys600=) NC_000008.11:47970875:G:A p.(Lys600=) NC_000008.11:47970875:G:A Identity +NM_000836.4:c.3235_3243del NP_000827.2:p.1076AGG[1] NC_000019.10:48443157:GGCGCGGGGGGC:GGC p.(Ala1079_Gly1081del) NC_000019.10:48443157:GGCGCGGGGGGC:GGC p.(Ala1079_Gly1081del) NC_000019.10:48443160:GCGGGGGGC: Analogous +NM_000402.4:c.810C>T NP_000393.4:p.Pro270= NC_000023.11:154534084:G:A p.(Pro270=) NC_000023.11:154534084:G:A p.(Pro270=) NC_000023.11:154534084:G:A Identity +NM_000484.4:c.735_746del NP_000475.1:p.Asp245_Asp248del NC_000021.9:26021958:TCATCGTCCTCGTCATC:TCATC p.(Asp245_Asp248del) NC_000021.9:26021958:TCATCGTCCTCGTCATC:TCATC p.(Asp245_Asp248del) NC_000021.9:26021958:TCATCGTCCTCG: Identity +NM_001304418.3:c.114A>G NP_001291347.1:p.Glu38= NC_000003.12:69122272:T:C p.(Glu38=) NC_000003.12:69122272:T:C p.(Glu38=) NC_000003.12:69122272:T:C Identity +NM_001037333.3:c.2661C>G NP_001032410.1:p.Leu887= NC_000005.10:157341144:C:G p.(Leu887=) NC_000005.10:157341144:C:G p.(Leu887=) NC_000005.10:157341144:C:G Identity +NM_006915.3:c.513del NP_008846.2:p.Thr170_Trp171insTer NC_000023.11:46853884:GG:G p.(Trp171Ter) NC_000023.11:46853884:GG:G p.(Trp171Ter) NC_000023.11:46853885:G: Analogous +NM_001081676.2:c.849C>T NP_001075145.1:p.Ser283= NC_000002.12:165162673:G:A p.(Ser283=) NC_000002.12:165162673:G:A p.(Ser283=) NC_000002.12:165162673:G:A Identity +NM_017999.5:c.174C>G NP_060469.4:p.Arg58= NC_000014.9:24147871:C:G p.(Arg58=) NC_000014.9:24147871:C:G p.(Arg58=) NC_000014.9:24147871:C:G Identity +NM_012238.5:c.208GCG[6] NP_036370.2:p.Ala74dup NC_000010.11:67884928:GCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCG p.(Ala74dup) NC_000010.11:67884928:G:GCGGCGGCGGCGGCGGCG ERR:Parse ERR:Parse Identity +NM_005413.4:c.111_128dup NP_005404.1:p.Gly42_Gly47dup NC_000002.12:44942211:CGGTGCGGGAGGCGGCGGCGG:CGGTGCGGGAGGCGGCGGCGGTGCGGGAGGCGGCGGCGG p.(Gly42_Gly47dup) NC_000002.12:44942211:CGGTGCGGGAGGCGGCGGCGG:CGGTGCGGGAGGCGGCGGCGGTGCGGGAGGCGGCGGCGG p.(Gly42_Gly47dup) ERR:SPDI Identity +NM_001278511.2:c.906G>A NP_001265440.1:p.Lys302= NC_000015.10:82680524:C:T p.(Lys302=) NC_000015.10:82680524:C:T p.(Lys302=) NC_000015.10:82680524:C:T Identity +NM_001184.4:c.561A>G NP_001175.2:p.Gly187= NC_000003.12:142562840:T:C p.(Gly187=) NC_000003.12:142562840:T:C p.(Gly187=) NC_000003.12:142562840:T:C Identity +NM_000486.6:c.117C>T NP_000477.1:p.Pro39= NC_000012.12:49950946:C:T p.(Pro39=) NC_000012.12:49950946:C:T p.(Pro39=) NC_000012.12:49950946:C:T Identity +NM_001130066.2:c.2373G>T NP_001123538.1:p.Leu791= NC_000006.12:33442966:G:T p.(Leu791=) NC_000006.12:33442966:G:T p.(Leu791=) NC_000006.12:33442966:G:T Identity +NM_001278727.2:c.435C>T NP_001265656.1:p.Gly145= NC_000019.10:19198168:C:T p.(Gly145=) NC_000019.10:19198168:C:T p.(Gly145=) NC_000019.10:19198168:C:T Identity +NM_001290048.2:c.102_104dup NP_001276977.1:p.Gln34_Asp35insGlu NC_000011.10:63659140:TCCT:TCCTCCT p.(Gln34_Asp35insGlu) NC_000011.10:63659140:TCCT:TCCTCCT p.(Gln34_Asp35insGlu) ERR:SPDI Identity +NM_001256119.2:c.582C>T NP_001243048.1:p.Ser194= NC_000023.11:153930067:G:A p.(Ser194=) NC_000023.11:153930067:G:A p.(Ser194=) NC_000023.11:153930067:G:A Identity +NM_001098.3:c.1328_1357del NP_001089.1:p.Val443_Ile452del NC_000022.11:41523229:GCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTG:GCATTG p.(Val443_Ile452del) NC_000022.11:41523229:GCATTGTCCTGGCCAATGCTTGTGGCCCCTGCATTG:GCATTG p.(Val443_Ile452del) NC_000022.11:41523235:TCCTGGCCAATGCTTGTGGCCCCTGCATTG: Identity +NM_001024847.3:c.915C>G NP_001020018.1:p.Pro305= NC_000003.12:30672022:C:G p.(Pro305=) NC_000003.12:30672022:C:G p.(Pro305=) NC_000003.12:30672022:C:G Identity +NM_207361.6:c.1353G>A NP_997244.4:p.Glu451= NC_000013.11:38688696:G:A p.(Glu451=) NC_000013.11:38688696:G:A p.(Glu451=) NC_000013.11:38688696:G:A Identity +LRG_292t1:c.3394_3399del LRG_292p1:p.Asn1132_Leu1133del NC_000017.11:43092131:TAAGTT: ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001385125.1:c.924A>G NP_001372054.1:p.Gln308= NC_000007.14:128772653:T:C p.(Gln308=) NC_000007.14:128772653:T:C p.(Gln308=) NC_000007.14:128772653:T:C Identity +NM_138694.4:c.1527A>G NP_619639.3:p.Ser509= NC_000006.12:52056964:T:C p.(Ser509=) NC_000006.12:52056964:T:C p.(Ser509=) NC_000006.12:52056964:T:C Identity +NM_001008537.3:c.78T>C NP_001008537.1:p.Asn26= NC_000023.11:74745572:A:G p.(Asn26=) NC_000023.11:74745572:A:G p.(Asn26=) NC_000023.11:74745572:A:G Identity +NM_000548.5:c.4139_4165dup NP_000539.2:p.Gln1380_Ser1388dup NC_000016.10:2084359:CAGCCCCTGAGCAAGTCCAGCTCCTCTC:CAGCCCCTGAGCAAGTCCAGCTCCTCTCAGCCCCTGAGCAAGTCCAGCTCCTCTC p.(Gln1380_Ser1388dup) NC_000016.10:2084359:CAGCCCCTGAGCAAGTCCAGCTCCTCTC:CAGCCCCTGAGCAAGTCCAGCTCCTCTCAGCCCCTGAGCAAGTCCAGCTCCTCTC p.(Gln1380_Ser1388dup) ERR:SPDI Identity +NM_005921.2:c.2824ACA[10] NP_005912.1:p.Thr948_Thr949dup NC_000005.10:56882021:CAACAACAACAACAACAACAACAACA:CAACAACAACAACAACAACAACAACAACAACA p.(Thr948_Thr949dup) NC_000005.10:56882023:A:ACAACAACAACAACAACAACAACAACAACA ERR:Parse ERR:Parse Identity +NM_000454.5:c.319_324del NP_000445.1:p.Leu107_Ser108del NC_000021.9:31667331:TCTCACTCTCA:TCTCA p.(Leu107_Ser108del) NC_000021.9:31667331:TCTCACTCTCA:TCTCA p.(Leu107_Ser108del) NC_000021.9:31667336:CTCTCA: Identity +NM_001166110.2:c.229_234del NP_001159582.1:p.Pro77_Glu78del NC_000004.12:168878116:GAGCCCGAG:GAG p.(Pro77_Glu78del) NC_000004.12:168878116:GAGCCCGAG:GAG p.(Pro77_Glu78del) NC_000004.12:168878119:CCCGAG: Identity +NM_001321309.2:c.225A>G NP_001308238.1:p.Gln75= NC_000003.12:123737378:T:C p.(Gln75=) NC_000003.12:123737378:T:C p.(Gln75=) NC_000003.12:123737378:T:C Identity +NM_001379500.1:c.1671C>T NP_001366429.1:p.Ser557= NC_000021.9:45482021:C:T p.(Ser557=) NC_000021.9:45482021:C:T p.(Ser557=) NC_000021.9:45482021:C:T Identity +NM_007129.5:c.1392_1400dup NP_009060.2:p.Ala468_Ala470dup NC_000013.11:99985466:GCGGCGGCTGCGGCGGC:GCGGCGGCTGCGGCGGCTGCGGCGGC p.(Ala468_Ala470dup) NC_000013.11:99985466:GCGGCGGCTGCGGCGGC:GCGGCGGCTGCGGCGGCTGCGGCGGC p.(Ala468_Ala470dup) ERR:SPDI Identity +NM_006516.4:c.867T>A NP_006507.2:p.Ala289= NC_000001.11:42929592:A:T p.(Ala289=) NC_000001.11:42929592:A:T p.(Ala289=) NC_000001.11:42929592:A:T Identity +NM_015164.4:c.2466G>T NP_055979.2:p.Gly822= NC_000001.11:15731888:G:T p.(Gly822=) NC_000001.11:15731888:G:T p.(Gly822=) NC_000001.11:15731888:G:T Identity +NM_031935.3:c.8925C>T NP_114141.2:p.Thr2975= NC_000001.11:186086285:C:T p.(Thr2975=) NC_000001.11:186086285:C:T p.(Thr2975=) NC_000001.11:186086285:C:T Identity +NM_001306079.2:c.1476G>T NP_001293008.1:p.Gly492= NC_000002.12:27225098:G:T p.(Gly492=) NC_000002.12:27225098:G:T p.(Gly492=) NC_000002.12:27225098:G:T Identity +NM_004523.4:c.3023_3028dup NP_004514.2:p.Val1009_Pro1010insArgVal NC_000010.11:92650500:GGGTTC:GGGTTCGGGTTC p.(Val1009_Pro1010insArgVal) NC_000010.11:92650500:GGGTTC:GGGTTCGGGTTC p.(Val1009_Pro1010insArgVal) ERR:SPDI Identity +NM_001304482.2:c.1722C>T NP_001291411.1:p.Arg574= NC_000003.12:47409804:C:T p.(Arg574=) NC_000003.12:47409804:C:T p.(Arg574=) NC_000003.12:47409804:C:T Identity +NM_001075098.4:c.64_93dup NP_001068566.1:p.Ser22_Cys31dup NC_000006.12:39934324:GCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAG:GCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAG p.(Ser22_Cys31dup) NC_000006.12:39934324:GCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAG:GCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAGGGCTGGGTCACCGGAGCCCCTGAGCTGCAG p.(Ser22_Cys31dup) ERR:SPDI Identity +NM_001271668.2:c.93del NP_001258597.1:p.Lys31_Val32insTer NC_000006.12:15652103:TTTT:TTT p.(Val32Ter) NC_000006.12:15652103:TTTT:TTT p.(Val32Ter) NC_000006.12:15652103:T: Analogous +NM_001126336.3:c.261A>G NP_001119808.1:p.Gln87= NC_000005.10:83490287:A:G p.(Gln87=) NC_000005.10:83490287:A:G p.(Gln87=) NC_000005.10:83490287:A:G Identity +NM_001330311.2:c.1758G>A NP_001317240.1:p.Pro586= NC_000001.11:1336471:C:T p.(Pro586=) NC_000001.11:1336471:C:T p.(Pro586=) NC_000001.11:1336471:C:T Identity +NM_001077397.1:c.645G>A NP_001070865.1:p.Ala215= NC_000001.11:234608849:C:T p.(Ala215=) NC_000001.11:234608849:C:T p.(Ala215=) NC_000001.11:234608849:C:T Identity +NM_000179.3:c.3661_3663dup NP_000170.1:p.Thr1221dup NC_000002.12:47806215:CAACA:CAACAACA p.(Thr1221dup) NC_000002.12:47806215:CAACA:CAACAACA p.(Thr1221dup) ERR:SPDI Identity +NM_001278511.2:c.2508C>T NP_001265440.1:p.Gly836= NC_000015.10:82662865:G:A p.(Gly836=) NC_000015.10:82662865:G:A p.(Gly836=) NC_000015.10:82662865:G:A Identity +NM_000421.5:c.1650_1667del NP_000412.4:p.Ser551_Gly556del NC_000017.11:40818867:CCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGC:CCGCCGCCGGAGCTGC p.(Ser551_Gly556del) NC_000017.11:40818867:CCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGC:CCGCCGCCGGAGCTGC p.(Ser551_Gly556del) NC_000017.11:40818867:CCGCCGCCGGAGCTGCTG: Identity +NM_004795.4:c.46TCGCTG[3] NP_004786.2:p.16SL[3] NC_000013.11:33016484:GTCGCTGTCGCTG:GTCGCTGTCGCTGTCGCTG p.(Ser18_Leu19dup) NC_000013.11:33016485:T:TCGCTGTCGCTGTCGCTG ERR:Parse ERR:Parse Analogous +NM_000260.4:c.132T>C NP_000251.3:p.Asn44= NC_000011.10:77142821:T:C p.(Asn44=) NC_000011.10:77142821:T:C p.(Asn44=) NC_000011.10:77142821:T:C Identity +NM_001017995.3:c.267C>T NP_001017995.1:p.Asp89= NC_000005.10:172394604:G:A p.(Asp89=) NC_000005.10:172394604:G:A p.(Asp89=) NC_000005.10:172394604:G:A Identity +NM_006269.2:c.2564del NP_006260.1:p.Ser854_Leu855insTer NC_000008.11:54626443:TTT:TT p.(Leu855Ter) NC_000008.11:54626443:TTT:TT p.(Leu855Ter) NC_000008.11:54626445:T: Analogous +NM_001035507.3:c.686dup NP_001030584.1:p.Pro229_Asp230insTer NC_000002.12:27054762:CC:CCC p.(Asp230Ter) NC_000002.12:27054762:CC:CCC p.(Asp230Ter) ERR:SPDI Analogous +NM_001035507.3:c.582G>A NP_001030584.1:p.Glu194= NC_000002.12:27054659:G:A p.(Glu194=) NC_000002.12:27054659:G:A p.(Glu194=) NC_000002.12:27054659:G:A Identity +NM_001101362.3:c.601C>T NP_001094832.1:p.Leu201= NC_000015.10:65077415:C:T p.(Leu201=) NC_000015.10:65077415:C:T p.(Leu201=) NC_000015.10:65077415:C:T Identity +NM_003954.5:c.2388G>A NP_003945.2:p.Ser796= NC_000017.11:45267136:C:T p.(Ser796=) NC_000017.11:45267136:C:T p.(Ser796=) NC_000017.11:45267136:C:T Identity +NM_000501.4:c.885C>T NP_000492.2:p.Ile295= NC_000007.14:74051834:C:T p.(Ile295=) NC_000007.14:74051834:C:T p.(Ile295=) NC_000007.14:74051834:C:T Identity +NM_000844.4:c.285A>G NP_000835.1:p.Leu95= NC_000003.12:6861672:A:G p.(Leu95=) NC_000003.12:6861672:A:G p.(Leu95=) NC_000003.12:6861672:A:G Identity +NM_001130009.3:c.363C>G NP_001123481.3:p.Leu121= NC_000002.12:17764910:C:G p.(Leu121=) NC_000002.12:17764910:C:G p.(Leu121=) NC_000002.12:17764910:C:G Identity +NM_001321431.2:c.552G>A NP_001308360.1:p.Thr184= NC_000019.10:8142126:C:T p.(Thr184=) NC_000019.10:8142126:C:T p.(Thr184=) NC_000019.10:8142126:C:T Identity +NM_001024845.3:c.1119G>A NP_001020016.1:p.Glu373= NC_000001.11:44001470:C:T p.(Glu373=) NC_000001.11:44001470:C:T p.(Glu373=) NC_000001.11:44001470:C:T Identity +NM_014510.3:c.636A>G NP_055325.2:p.Gln212= NC_000007.14:83156004:T:C p.(Gln212=) NC_000007.14:83156004:T:C p.(Gln212=) NC_000007.14:83156004:T:C Identity +NM_001291411.2:c.5624GATCAA[1] NP_001278340.2:p.1875RS[1] NC_000021.9:33554853:AGATCAAGATCAA:AGATCAA p.(Arg1877_Ser1878del) NC_000021.9:33554854:G:GATCAA ERR:Parse ERR:Parse Analogous +NM_001352252.2:c.906_907insGG NP_001339181.1:p.Ter303GlyextTer? NC_000013.11:110641539::CC p.(Ter303GlyfsTer8) NC_000013.11:110641538:A:CC p.(Ter303GlyextTer7) NC_000013.11:110641539:AG:CC Different +NM_001287424.2:c.415_420dup NP_001274353.1:p.Gly139_Asp140dup NC_000019.10:33302099:GTCGCCG:GTCGCCGTCGCCG p.(Gly139_Asp140dup) NC_000019.10:33302099:GTCGCCG:GTCGCCGTCGCCG p.(Gly139_Asp140dup) ERR:SPDI Identity +NM_001345950.1:c.1008C>T NP_001332879.1:p.Gly336= NC_000010.11:102656801:C:T p.(Gly336=) NC_000010.11:102656801:C:T p.(Gly336=) NC_000010.11:102656801:C:T Identity +NM_000249.4:c.2271_*3dup NP_000240.1:p.Ter757= NC_000003.12:37050650:TAAATA:TAAATAAATA p.(Ter757_Ile758=) NC_000003.12:37050650:TAAATA:TAAATAAATA p.? ERR:SPDI Analogous +NM_024685.4:c.1416A>G NP_078961.3:p.Thr472= NC_000012.12:76346568:T:C p.(Thr472=) NC_000012.12:76346568:T:C p.(Thr472=) NC_000012.12:76346568:T:C Identity +NM_000234.3:c.1566_1577del NP_000225.1:p.His523_Glu526del NC_000019.10:48134012:TCCAGGCCGTGCTCCAG:TCCAG p.(His523_Glu526del) NC_000019.10:48134012:TCCAGGCCGTGCTCCAG:TCCAG p.(His523_Glu526del) NC_000019.10:48134012:TCCAGGCCGTGC: Identity +NM_014510.3:c.7230CCCTCC[3] NP_055325.2:p.Pro2425_Pro2426dup NC_000007.14:82953711:GGAGGGGGAGGGGGAGG:GGAGGGGGAGGGGGAGGGGGAGG p.(Pro2425_Pro2426dup) NC_000007.14:82953722:G:GGAGGGGGAGGGGGAGGG ERR:Parse ERR:Parse Identity +NM_001023570.4:c.1363C>A NP_001018864.2:p.Arg455= NC_000003.12:121781789:G:T p.(Arg455=) NC_000003.12:121781789:G:T p.(Arg455=) NC_000003.12:121781789:G:T Identity +NM_006269.2:c.5586A>G NP_006260.1:p.Arg1862= NC_000008.11:54629467:A:G p.(Arg1862=) NC_000008.11:54629467:A:G p.(Arg1862=) NC_000008.11:54629467:A:G Identity +NM_001252043.2:c.2568GCT[7] NP_001238972.1:p.Leu860_Leu861dup NC_000016.10:29987176:CTGCTGCTGCTGCTGCT:CTGCTGCTGCTGCTGCTGCTGCT p.(Leu860_Leu861dup) NC_000016.10:29987178:G:GCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_005257.6:c.525G>A NP_005248.2:p.Ala175= NC_000018.10:22171668:G:A p.(Ala175=) NC_000018.10:22171668:G:A p.(Ala175=) NC_000018.10:22171668:G:A Identity +NM_001256213.2:c.2376G>T NP_001243142.1:p.Leu792= NC_000019.10:41970462:C:A p.(Leu792=) NC_000019.10:41970462:C:A p.(Leu792=) NC_000019.10:41970462:C:A Identity +NM_001161357.2:c.1320G>A NP_001154829.1:p.Leu440= NC_000019.10:17778196:G:A p.(Leu440=) NC_000019.10:17778196:G:A p.(Leu440=) NC_000019.10:17778196:G:A Identity +NM_001081676.2:c.3651A>G NP_001075145.1:p.Thr1217= NC_000002.12:165112929:T:C p.(Thr1217=) NC_000002.12:165112929:T:C p.(Thr1217=) NC_000002.12:165112929:T:C Identity +NM_000720.4:c.2172C>T NP_000711.1:p.Gly724= NC_000003.12:53726889:C:T p.(Gly724=) NC_000003.12:53726889:C:T p.(Gly724=) NC_000003.12:53726889:C:T Identity +NM_001171.6:c.1314G>A NP_001162.5:p.Val438= NC_000016.10:16198044:C:T p.(Val438=) NC_000016.10:16198044:C:T p.(Val438=) NC_000016.10:16198044:C:T Identity +NM_000249.4:c.1068T>A NP_000240.1:p.Ser356= NC_000003.12:37025665:T:A p.(Ser356=) NC_000003.12:37025665:T:A p.(Ser356=) NC_000003.12:37025665:T:A Identity +NM_000059.4:c.3858_3860dup NP_000050.3:p.Lys1286dup NC_000013.11:32338208:AAAAAAA:AAAAAAAAAA p.(Lys1286dup) NC_000013.11:32338208:AAAAAAA:AAAAAAAAAA p.(Lys1286dup) ERR:SPDI Identity +NM_001250.6:c.384C>G NP_001241.1:p.Gly128= NC_000020.11:46122736:C:G p.(Gly128=) NC_000020.11:46122736:C:G p.(Gly128=) NC_000020.11:46122736:C:G Identity +NM_001376.5:c.8178G>A NP_001367.2:p.Arg2726= NC_000014.9:102018450:G:A p.(Arg2726=) NC_000014.9:102018450:G:A p.(Arg2726=) NC_000014.9:102018450:G:A Identity +NM_001346897.2:c.3006G>A NP_001333826.1:p.Val1002= NC_000007.14:55201760:G:A p.(Val1002=) NC_000007.14:55201760:G:A p.(Val1002=) NC_000007.14:55201760:G:A Identity +NM_001035507.3:c.1632G>A NP_001030584.1:p.Pro544= NC_000002.12:27057398:G:A p.(Pro544=) NC_000002.12:27057398:G:A p.(Pro544=) NC_000002.12:27057398:G:A Identity +NM_001015051.4:c.228_248del NP_001015051.3:p.Ala83_Ala89del NC_000006.12:45422749:GGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGC:GGCGGCGGCGGC p.(Ala83_Ala89del) NC_000006.12:45422749:GGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGC:GGCGGCGGCGGC p.(Ala83_Ala89del) NC_000006.12:45422761:GGCTGCGGCGGCGGCGGCGGC: Identity +NM_006876.3:c.1045C>A NP_006867.1:p.Arg349= NC_000011.10:66346500:G:T p.(Arg349=) NC_000011.10:66346500:G:T p.(Arg349=) NC_000011.10:66346500:G:T Identity +NM_001315529.2:c.6882C>T NP_001302458.1:p.Gly2294= NC_000021.9:46425886:C:T p.(Gly2294=) NC_000021.9:46425886:C:T p.(Gly2294=) NC_000021.9:46425886:C:T Identity +NM_138694.4:c.6138A>G NP_619639.3:p.Val2046= NC_000006.12:51912559:T:C p.(Val2046=) NC_000006.12:51912559:T:C p.(Val2046=) NC_000006.12:51912559:T:C Identity +NM_004369.4:c.7926A>T NP_004360.2:p.Ile2642= NC_000002.12:237340989:T:A p.(Ile2642=) NC_000002.12:237340989:T:A p.(Ile2642=) NC_000002.12:237340989:T:A Identity +NM_000038.6:c.2265G>A NP_000029.2:p.Arg755= NC_000005.10:112837858:G:A p.(Arg755=) NC_000005.10:112837858:G:A p.(Arg755=) NC_000005.10:112837858:G:A Identity +NM_030665.4:c.4584C>T NP_109590.3:p.His1528= NC_000017.11:17797531:C:T p.(His1528=) NC_000017.11:17797531:C:T p.(His1528=) NC_000017.11:17797531:C:T Identity +NM_001198799.3:c.1137C>T NP_001185728.1:p.Ala379= NC_000010.11:72102871:G:A p.(Ala379=) NC_000010.11:72102871:G:A p.(Ala379=) NC_000010.11:72102871:G:A Identity +NM_001042473.4:c.645T>C NP_001035938.1:p.Asn215= NC_000010.11:27218058:A:G p.(Asn215=) NC_000010.11:27218058:A:G p.(Asn215=) NC_000010.11:27218058:A:G Identity +NM_005477.3:c.2739G>T NP_005468.1:p.Ala913= NC_000015.10:73323353:C:A p.(Ala913=) NC_000015.10:73323353:C:A p.(Ala913=) NC_000015.10:73323353:C:A Identity +NM_000228.3:c.2415A>C NP_000219.2:p.Leu805= NC_000001.11:209623122:T:G p.(Leu805=) NC_000001.11:209623122:T:G p.(Leu805=) NC_000001.11:209623122:T:G Identity +NM_000198.4:c.324G>A NP_000189.1:p.Leu108= NC_000001.11:119421824:G:A p.(Leu108=) NC_000001.11:119421824:G:A p.(Leu108=) NC_000001.11:119421824:G:A Identity +NM_001291285.3:c.7692C>T NP_001278214.1:p.Ala2564= NC_000004.12:125448701:C:T p.(Ala2564=) NC_000004.12:125448701:C:T p.(Ala2564=) NC_000004.12:125448701:C:T Identity +NM_000204.5:c.1314C>T NP_000195.3:p.Asp438= NC_000004.12:109746336:G:A p.(Asp438=) NC_000004.12:109746336:G:A p.(Asp438=) NC_000004.12:109746336:G:A Identity +NM_138694.4:c.9669A>C NP_619639.3:p.Ser3223= NC_000006.12:51747946:T:G p.(Ser3223=) NC_000006.12:51747946:T:G p.(Ser3223=) NC_000006.12:51747946:T:G Identity +NM_001374478.1:c.1035C>T NP_001361407.1:p.Tyr345= NC_000001.11:26795068:C:T p.(Tyr345=) NC_000001.11:26795068:C:T p.(Tyr345=) NC_000001.11:26795068:C:T Identity +NM_006445.4:c.5223T>C NP_006436.3:p.Tyr1741= NC_000017.11:1658678:A:G p.(Tyr1741=) NC_000017.11:1658678:A:G p.(Tyr1741=) NC_000017.11:1658678:A:G Identity +NM_000252.3:c.1558C>A NP_000243.1:p.Arg520= NC_000023.11:150663522:C:A p.(Arg520=) NC_000023.11:150663522:C:A p.(Arg520=) NC_000023.11:150663522:C:A Identity +NM_006361.6:c.222C>A NP_006352.2:p.Ser74= NC_000017.11:48728371:G:T p.(Ser74=) NC_000017.11:48728371:G:T p.(Ser74=) NC_000017.11:48728371:G:T Identity +NM_000186.4:c.1239C>T NP_000177.2:p.Asp413= NC_000001.11:196690141:C:T p.(Asp413=) NC_000001.11:196690141:C:T p.(Asp413=) NC_000001.11:196690141:C:T Identity +NM_001100913.3:c.1710C>T NP_001094383.2:p.Leu570= NC_000014.9:105383442:C:T p.(Leu570=) NC_000014.9:105383442:C:T p.(Leu570=) NC_000014.9:105383442:C:T Identity +NM_000260.4:c.5832C>T NP_000251.3:p.Ser1944= NC_000011.10:77207377:C:T p.(Ser1944=) NC_000011.10:77207377:C:T p.(Ser1944=) NC_000011.10:77207377:C:T Identity +NM_001105540.2:c.1110C>T NP_001099010.1:p.Asp370= NC_000011.10:46369984:C:T p.(Asp370=) NC_000011.10:46369984:C:T p.(Asp370=) NC_000011.10:46369984:C:T Identity +NM_001286205.2:c.468C>T NP_001273134.1:p.Asp156= NC_000016.10:90036546:C:T p.(Asp156=) NC_000016.10:90036546:C:T p.(Asp156=) NC_000016.10:90036546:C:T Identity +NM_000064.4:c.3786C>T NP_000055.2:p.Tyr1262= NC_000019.10:6686147:G:A p.(Tyr1262=) NC_000019.10:6686147:G:A p.(Tyr1262=) NC_000019.10:6686147:G:A Identity +NM_000238.4:c.240G>T NP_000229.1:p.Ala80= NC_000007.14:150974777:C:A p.(Ala80=) NC_000007.14:150974777:C:A p.(Ala80=) NC_000007.14:150974777:C:A Identity +NM_001243254.2:c.975G>A NP_001230183.1:p.Ala325= NC_000011.10:9193655:C:T p.(Ala325=) NC_000011.10:9193655:C:T p.(Ala325=) NC_000011.10:9193655:C:T Identity +NM_001846.4:c.2590C>T NP_001837.2:p.Leu864= NC_000013.11:110480221:C:T p.(Leu864=) NC_000013.11:110480221:C:T p.(Leu864=) NC_000013.11:110480221:C:T Identity +NM_001166226.2:c.2010A>T NP_001159698.1:p.Ser670= NC_000005.10:123382125:T:A p.(Ser670=) NC_000005.10:123382125:T:A p.(Ser670=) NC_000005.10:123382125:T:A Identity +NM_003489.4:c.2094T>C NP_003480.2:p.Leu698= NC_000021.9:14966098:A:G p.(Leu698=) NC_000021.9:14966098:A:G p.(Leu698=) NC_000021.9:14966098:A:G Identity +NM_001315529.2:c.7242C>T NP_001302458.1:p.His2414= NC_000021.9:46428495:C:T p.(His2414=) NC_000021.9:46428495:C:T p.(His2414=) NC_000021.9:46428495:C:T Identity +NM_001282352.2:c.378C>T NP_001269281.1:p.Cys126= NC_000019.10:8589568:G:A p.(Cys126=) NC_000019.10:8589568:G:A p.(Cys126=) NC_000019.10:8589568:G:A Identity +NM_005112.5:c.1140C>T NP_005103.2:p.Asp380= NC_000004.12:10077761:G:A p.(Asp380=) NC_000004.12:10077761:G:A p.(Asp380=) NC_000004.12:10077761:G:A Identity +NM_015295.3:c.3033A>T NP_056110.2:p.Ala1011= NC_000018.10:2729393:A:T p.(Ala1011=) NC_000018.10:2729393:A:T p.(Ala1011=) NC_000018.10:2729393:A:T Identity +NM_001135597.2:c.1608T>C NP_001129069.1:p.Ala536= NC_000002.12:55336728:A:G p.(Ala536=) NC_000002.12:55336728:A:G p.(Ala536=) NC_000002.12:55336728:A:G Identity +NM_001310332.2:c.471C>G NP_001297261.1:p.Ala157= NC_000014.9:24150174:C:G p.(Ala157=) NC_000014.9:24150174:C:G p.(Ala157=) NC_000014.9:24150174:C:G Identity +NM_001261826.3:c.1473G>A NP_001248755.1:p.Glu491= NC_000019.10:2120869:C:T p.(Glu491=) NC_000019.10:2120869:C:T p.(Glu491=) NC_000019.10:2120869:C:T Identity +NM_001197104.2:c.1560A>G NP_001184033.1:p.Glu520= NC_000011.10:118472718:A:G p.(Glu520=) NC_000011.10:118472718:A:G p.(Glu520=) NC_000011.10:118472718:A:G Identity +NM_001384158.1:c.1455G>T NP_001371087.1:p.Ser485= NC_000014.9:91870238:C:A p.(Ser485=) NC_000014.9:91870238:C:A p.(Ser485=) NC_000014.9:91870238:C:A Identity +NM_001308301.1:c.417C>A NP_001295230.1:p.Ala139= NC_000016.10:46732229:G:T p.(Ala139=) NC_000016.10:46732229:G:T p.(Ala139=) NC_000016.10:46732229:G:T Identity +NM_001024218.2:c.1887A>G NP_001019389.1:p.Val629= NC_000014.9:67168942:A:G p.(Val629=) NC_000014.9:67168942:A:G p.(Val629=) NC_000014.9:67168942:A:G Identity +NM_001379500.1:c.2853C>T NP_001366429.1:p.Gly951= NC_000021.9:45504540:C:T p.(Gly951=) NC_000021.9:45504540:C:T p.(Gly951=) NC_000021.9:45504540:C:T Identity +NM_001321309.2:c.2022G>A NP_001308238.1:p.Arg674= NC_000003.12:123700917:C:T p.(Arg674=) NC_000003.12:123700917:C:T p.(Arg674=) NC_000003.12:123700917:C:T Identity +NM_001134670.2:c.42A>G NP_001128142.1:p.Leu14= NC_000010.11:97584744:A:G p.(Leu14=) NC_000010.11:97584744:A:G p.(Leu14=) NC_000010.11:97584744:A:G Identity +NM_001204403.2:c.2271G>A NP_001191332.1:p.Gly757= NC_000010.11:60172992:C:T p.(Gly757=) NC_000010.11:60172992:C:T p.(Gly757=) NC_000010.11:60172992:C:T Identity +NM_000128.4:c.435C>T NP_000119.1:p.His145= NC_000004.12:186274224:C:T p.(His145=) NC_000004.12:186274224:C:T p.(His145=) NC_000004.12:186274224:C:T Identity +NM_003482.4:c.12207C>T NP_003473.3:p.Leu4069= NC_000012.12:49032497:G:A p.(Leu4069=) NC_000012.12:49032497:G:A p.(Leu4069=) NC_000012.12:49032497:G:A Identity +NM_001100913.3:c.1218G>A NP_001094383.2:p.Pro406= NC_000014.9:105381048:G:A p.(Pro406=) NC_000014.9:105381048:G:A p.(Pro406=) NC_000014.9:105381048:G:A Identity +NM_001289395.2:c.1374G>A NP_001276324.1:p.Glu458= NC_000006.12:35498422:C:T p.(Glu458=) NC_000006.12:35498422:C:T p.(Glu458=) NC_000006.12:35498422:C:T Identity +NM_006876.3:c.1074G>T NP_006867.1:p.Val358= NC_000011.10:66346222:C:A p.(Val358=) NC_000011.10:66346222:C:A p.(Val358=) NC_000011.10:66346222:C:A Identity +NM_005101.4:c.441C>G NP_005092.1:p.Thr147= NC_000001.11:1014420:C:G p.(Thr147=) NC_000001.11:1014420:C:G p.(Thr147=) NC_000001.11:1014420:C:G Identity +NM_001136536.5:c.825G>A NP_001130008.2:p.Leu275= NC_000004.12:36306241:G:A p.(Leu275=) NC_000004.12:36306241:G:A p.(Leu275=) NC_000004.12:36306241:G:A Identity +NM_000245.4:c.1845T>C NP_000236.2:p.Ser615= NC_000007.14:116755497:T:C p.(Ser615=) NC_000007.14:116755497:T:C p.(Ser615=) NC_000007.14:116755497:T:C Identity +NM_000495.5:c.1329C>T NP_000486.1:p.His443= NC_000023.11:108591220:C:T p.(His443=) NC_000023.11:108591220:C:T p.(His443=) NC_000023.11:108591220:C:T Identity +NM_014141.6:c.3561C>T NP_054860.1:p.Ile1187= NC_000007.14:148383733:C:T p.(Ile1187=) NC_000007.14:148383733:C:T p.(Ile1187=) NC_000007.14:148383733:C:T Identity +NM_001127178.3:c.1926C>A NP_001120650.1:p.Thr642= NC_000004.12:523769:C:A p.(Thr642=) NC_000004.12:523769:C:A p.(Thr642=) NC_000004.12:523769:C:A Identity +NM_001122681.2:c.1608G>A NP_001116153.1:p.Glu536= NC_000004.12:2833755:G:A p.(Glu536=) NC_000004.12:2833755:G:A p.(Glu536=) NC_000004.12:2833755:G:A Identity +NM_001077269.1:c.39G>A NP_001070737.1:p.Pro13= NC_000002.12:174585534:C:T p.(Pro13=) NC_000002.12:174585534:C:T p.(Pro13=) NC_000002.12:174585534:C:T Identity +NM_032520.5:c.450T>C NP_115909.1:p.His150= NC_000016.10:1362243:T:C p.(His150=) NC_000016.10:1362243:T:C p.(His150=) NC_000016.10:1362243:T:C Identity +NM_030582.4:c.300G>A NP_085059.2:p.Pro100= NC_000021.9:45455829:G:A p.(Pro100=) NC_000021.9:45455829:G:A p.(Pro100=) NC_000021.9:45455829:G:A Identity +NM_001127671.2:c.18A>G NP_001121143.1:p.Val6= NC_000005.10:38530629:T:C p.(Val6=) NC_000005.10:38530629:T:C p.(Val6=) NC_000005.10:38530629:T:C Identity +NM_001308275.2:c.528T>C NP_001295204.1:p.Asn176= NC_000010.11:93792766:T:C p.(Asn176=) NC_000010.11:93792766:T:C p.(Asn176=) NC_000010.11:93792766:T:C Identity +NM_021076.4:c.2043G>A NP_066554.2:p.Lys681= NC_000022.11:29489682:G:A p.(Lys681=) NC_000022.11:29489682:G:A p.(Lys681=) NC_000022.11:29489682:G:A Identity +NM_006739.4:c.1212G>C NP_006730.2:p.Thr404= NC_000022.11:35415836:G:C p.(Thr404=) NC_000022.11:35415836:G:C p.(Thr404=) NC_000022.11:35415836:G:C Identity +NM_001306079.2:c.3642G>A NP_001293008.1:p.Val1214= NC_000002.12:27235288:G:A p.(Val1214=) NC_000002.12:27235288:G:A p.(Val1214=) NC_000002.12:27235288:G:A Identity +NM_001270476.2:c.867C>G NP_001257405.1:p.Ala289= NC_000006.12:43009389:C:G p.(Ala289=) NC_000006.12:43009389:C:G p.(Ala289=) NC_000006.12:43009389:C:G Identity +NM_001127244.2:c.1236G>A NP_001120716.1:p.Thr412= NC_000009.12:128908399:G:A p.(Thr412=) NC_000009.12:128908399:G:A p.(Thr412=) NC_000009.12:128908399:G:A Identity +NM_000092.5:c.2214C>A NP_000083.3:p.Ser738= NC_000002.12:227059573:G:T p.(Ser738=) NC_000002.12:227059573:G:T p.(Ser738=) NC_000002.12:227059573:G:T Identity +NM_001010938.2:c.2310G>A NP_001010938.2:p.Pro770= NC_000003.12:195868059:C:T p.(Pro770=) NC_000003.12:195868059:C:T p.(Pro770=) NC_000003.12:195868059:C:T Identity +NM_001030311.3:c.307C>T NP_001025482.1:p.Leu103= NC_000002.12:181604010:G:A p.(Leu103=) NC_000002.12:181604010:G:A p.(Leu103=) NC_000002.12:181604010:G:A Identity +NM_152393.4:c.693C>T NP_689606.2:p.Arg231= NC_000003.12:42686310:C:T p.(Arg231=) NC_000003.12:42686310:C:T p.(Arg231=) NC_000003.12:42686310:C:T Identity +NM_001283050.2:c.21A>G NP_001269979.1:p.Gly7= NC_000021.9:44238481:T:C p.(Gly7=) NC_000021.9:44238481:T:C p.(Gly7=) NC_000021.9:44238481:T:C Identity +NM_001135659.3:c.573C>T NP_001129131.1:p.Ser191= NC_000002.12:51027700:G:A p.(Ser191=) NC_000002.12:51027700:G:A p.(Ser191=) NC_000002.12:51027700:G:A Identity +NM_001318746.1:c.303G>A NP_001305675.1:p.Lys101= NC_000006.12:106619218:C:T p.(Lys101=) NC_000006.12:106619218:C:T p.(Lys101=) NC_000006.12:106619218:C:T Identity +NM_000127.3:c.405A>G NP_000118.2:p.Leu135= NC_000008.11:118110641:T:C p.(Leu135=) NC_000008.11:118110641:T:C p.(Leu135=) NC_000008.11:118110641:T:C Identity +NM_001353967.2:c.945C>T NP_001340896.1:p.Asn315= NC_000002.12:73850452:C:T p.(Asn315=) NC_000002.12:73850452:C:T p.(Asn315=) NC_000002.12:73850452:C:T Identity +NM_001304482.2:c.2913A>T NP_001291411.1:p.Val971= NC_000003.12:47411088:A:T p.(Val971=) NC_000003.12:47411088:A:T p.(Val971=) NC_000003.12:47411088:A:T Identity +NM_001130455.2:c.690G>A NP_001123927.1:p.Gly230= NC_000002.12:71515645:G:A p.(Gly230=) NC_000002.12:71515645:G:A p.(Gly230=) NC_000002.12:71515645:G:A Identity +NM_001039348.3:c.1104C>G NP_001034437.1:p.Pro368= NC_000002.12:55871019:G:C p.(Pro368=) NC_000002.12:55871019:G:C p.(Pro368=) NC_000002.12:55871019:G:C Identity +NM_001290553.2:c.696A>G NP_001277482.1:p.Pro232= NC_000001.11:202943866:T:C p.(Pro232=) NC_000001.11:202943866:T:C p.(Pro232=) NC_000001.11:202943866:T:C Identity +NM_001042544.1:c.2187G>A NP_001036009.1:p.Thr729= NC_000019.10:40611326:G:A p.(Thr729=) NC_000019.10:40611326:G:A p.(Thr729=) NC_000019.10:40611326:G:A Identity +NM_001374782.1:c.243C>G NP_001361711.1:p.Ala81= NC_000010.11:51074832:C:G p.(Ala81=) NC_000010.11:51074832:C:G p.(Ala81=) NC_000010.11:51074832:C:G Identity +NM_001365023.1:c.618T>C NP_001351952.1:p.Tyr206= NC_000009.12:74642762:T:C p.(Tyr206=) NC_000009.12:74642762:T:C p.(Tyr206=) NC_000009.12:74642762:T:C Identity +NM_031935.3:c.4938C>T NP_114141.2:p.Ala1646= NC_000001.11:186015985:C:T p.(Ala1646=) NC_000001.11:186015985:C:T p.(Ala1646=) NC_000001.11:186015985:C:T Identity +NM_145046.5:c.1095G>A NP_659483.2:p.Ser365= NC_000019.10:16479190:C:T p.(Ser365=) NC_000019.10:16479190:C:T p.(Ser365=) NC_000019.10:16479190:C:T Identity +NM_017617.5:c.7104G>A NP_060087.3:p.Leu2368= NC_000009.12:136496634:C:T p.(Leu2368=) NC_000009.12:136496634:C:T p.(Leu2368=) NC_000009.12:136496634:C:T Identity +NM_152393.4:c.207G>A NP_689606.2:p.Ala69= NC_000003.12:42685824:G:A p.(Ala69=) NC_000003.12:42685824:G:A p.(Ala69=) NC_000003.12:42685824:G:A Identity +NM_001365819.1:c.3513C>T NP_001352748.1:p.Ile1171= NC_000022.11:50459647:G:A p.(Ile1171=) NC_000022.11:50459647:G:A p.(Ile1171=) NC_000022.11:50459647:G:A Identity +NM_005120.3:c.300T>C NP_005111.2:p.Asp100= NC_000023.11:71119780:T:C p.(Asp100=) NC_000023.11:71119780:T:C p.(Asp100=) NC_000023.11:71119780:T:C Identity +NM_001318360.2:c.3006C>A NP_001305289.1:p.Ala1002= NC_000009.12:108880163:G:T p.(Ala1002=) NC_000009.12:108880163:G:T p.(Ala1002=) NC_000009.12:108880163:G:T Identity +NM_002764.4:c.171G>A NP_002755.1:p.Gln57= NC_000023.11:107639342:G:A p.(Gln57=) NC_000023.11:107639342:G:A p.(Gln57=) NC_000023.11:107639342:G:A Identity +NM_000489.6:c.4095A>G NP_000480.3:p.Glu1365= NC_000023.11:77663406:T:C p.(Glu1365=) NC_000023.11:77663406:T:C p.(Glu1365=) NC_000023.11:77663406:T:C Identity +NM_001130066.2:c.2283G>A NP_001123538.1:p.Arg761= NC_000006.12:33441747:G:A p.(Arg761=) NC_000006.12:33441747:G:A p.(Arg761=) NC_000006.12:33441747:G:A Identity +NM_013254.4:c.1566C>T NP_037386.1:p.Ile522= NC_000012.12:64495526:C:T p.(Ile522=) NC_000012.12:64495526:C:T p.(Ile522=) NC_000012.12:64495526:C:T Identity +NM_001001331.4:c.624C>T NP_001001331.1:p.Ile208= NC_000003.12:10402121:G:A p.(Ile208=) NC_000003.12:10402121:G:A p.(Ile208=) NC_000003.12:10402121:G:A Identity +NM_001365819.1:c.3156G>C NP_001352748.1:p.Leu1052= NC_000022.11:50460401:C:G p.(Leu1052=) NC_000022.11:50460401:C:G p.(Leu1052=) NC_000022.11:50460401:C:G Identity +NM_001013838.3:c.4065G>A NP_001013860.1:p.Ser1355= NC_000016.10:67656828:G:A p.(Ser1355=) NC_000016.10:67656828:G:A p.(Ser1355=) NC_000016.10:67656828:G:A Identity +NM_003791.4:c.2826G>A NP_003782.1:p.Ala942= NC_000016.10:84059306:C:T p.(Ala942=) NC_000016.10:84059306:C:T p.(Ala942=) NC_000016.10:84059306:C:T Identity +NM_000101.4:c.153G>C NP_000092.2:p.Leu51= NC_000016.10:88647150:C:G p.(Leu51=) NC_000016.10:88647150:C:G p.(Leu51=) NC_000016.10:88647150:C:G Identity +NM_002067.5:c.732C>T NP_002058.2:p.Asn244= NC_000019.10:3119049:C:T p.(Asn244=) NC_000019.10:3119049:C:T p.(Asn244=) NC_000019.10:3119049:C:T Identity +NM_001269039.3:c.84A>C NP_001255968.1:p.Ala28= NC_000010.11:110964441:A:C p.(Ala28=) NC_000010.11:110964441:A:C p.(Ala28=) NC_000010.11:110964441:A:C Identity +NM_001068.3:c.1668C>T NP_001059.2:p.Thr556= NC_000003.12:25630034:G:A p.(Thr556=) NC_000003.12:25630034:G:A p.(Thr556=) NC_000003.12:25630034:G:A Identity +NM_000540.3:c.4671C>T NP_000531.2:p.His1557= NC_000019.10:38483076:C:T p.(His1557=) NC_000019.10:38483076:C:T p.(His1557=) NC_000019.10:38483076:C:T Identity +NM_032888.4:c.4257C>G NP_116277.2:p.Val1419= NC_000009.12:114290107:C:G p.(Val1419=) NC_000009.12:114290107:C:G p.(Val1419=) NC_000009.12:114290107:C:G Identity +NM_001379500.1:c.2814C>A NP_001366429.1:p.Pro938= NC_000021.9:45504501:C:A p.(Pro938=) NC_000021.9:45504501:C:A p.(Pro938=) NC_000021.9:45504501:C:A Identity +NM_001204824.2:c.588C>A NP_001191753.1:p.Thr196= NC_000008.11:132174334:G:T p.(Thr196=) NC_000008.11:132174334:G:T p.(Thr196=) NC_000008.11:132174334:G:T Identity +NM_020312.4:c.33C>T NP_064708.1:p.Gly11= NC_000016.10:57447537:C:T p.(Gly11=) NC_000016.10:57447537:C:T p.(Gly11=) NC_000016.10:57447537:C:T Identity +NM_001692.4:c.336C>T NP_001683.2:p.Ile112= NC_000002.12:70958394:C:T p.(Ile112=) NC_000002.12:70958394:C:T p.(Ile112=) NC_000002.12:70958394:C:T Identity +NM_003801.4:c.771C>T NP_003792.1:p.Thr257= NC_000008.11:144084287:C:T p.(Thr257=) NC_000008.11:144084287:C:T p.(Thr257=) NC_000008.11:144084287:C:T Identity +NM_001284367.2:c.444C>T NP_001271296.1:p.Asp148= NC_000010.11:100526422:G:A p.(Asp148=) NC_000010.11:100526422:G:A p.(Asp148=) NC_000010.11:100526422:G:A Identity +NM_030957.4:c.246G>A NP_112219.3:p.Ser82= NC_000019.10:8605200:C:T p.(Ser82=) NC_000019.10:8605200:C:T p.(Ser82=) NC_000019.10:8605200:C:T Identity +NM_018670.4:c.657G>T NP_061140.1:p.Pro219= NC_000015.10:89750574:C:A p.(Pro219=) NC_000015.10:89750574:C:A p.(Pro219=) NC_000015.10:89750574:C:A Identity +NM_001285829.2:c.495G>A NP_001272758.1:p.Glu165= NC_000019.10:33301562:C:T p.(Glu165=) NC_000019.10:33301562:C:T p.(Glu165=) NC_000019.10:33301562:C:T Identity +NM_001281463.1:c.2502A>G NP_001268392.1:p.Glu834= NC_000023.11:53396611:T:C p.(Glu834=) NC_000023.11:53396611:T:C p.(Glu834=) NC_000023.11:53396611:T:C Identity +NM_001377273.1:c.2886T>C NP_001364202.1:p.Asp962= NC_000012.12:21845812:A:G p.(Asp962=) NC_000012.12:21845812:A:G p.(Asp962=) NC_000012.12:21845812:A:G Identity +NM_000128.4:c.1731C>A NP_000119.1:p.Gly577= NC_000004.12:186288466:C:A p.(Gly577=) NC_000004.12:186288466:C:A p.(Gly577=) NC_000004.12:186288466:C:A Identity +NM_018163.3:c.771C>T NP_060633.1:p.Arg257= NC_000015.10:40773747:G:A p.(Arg257=) NC_000015.10:40773747:G:A p.(Arg257=) NC_000015.10:40773747:G:A Identity +NM_001318245.2:c.2853C>T NP_001305174.1:p.Asn951= NC_000022.11:25828841:C:T p.(Asn951=) NC_000022.11:25828841:C:T p.(Asn951=) NC_000022.11:25828841:C:T Identity +NM_001252650.2:c.462C>T NP_001239579.1:p.Gly154= NC_000014.9:67685196:G:A p.(Gly154=) NC_000014.9:67685196:G:A p.(Gly154=) NC_000014.9:67685196:G:A Identity +NM_000878.5:c.714G>A NP_000869.1:p.Lys238= NC_000022.11:37135431:C:T p.(Lys238=) NC_000022.11:37135431:C:T p.(Lys238=) NC_000022.11:37135431:C:T Identity +NM_001130965.3:c.42T>C NP_001124437.1:p.Cys14= NC_000007.14:832565:T:C p.(Cys14=) NC_000007.14:832565:T:C p.(Cys14=) NC_000007.14:832565:T:C Identity +NM_006269.2:c.4956C>A NP_006260.1:p.Arg1652= NC_000008.11:54628837:C:A p.(Arg1652=) NC_000008.11:54628837:C:A p.(Arg1652=) NC_000008.11:54628837:C:A Identity +NM_014391.3:c.450T>C NP_055206.2:p.Asp150= NC_000010.11:90918867:A:G p.(Asp150=) NC_000010.11:90918867:A:G p.(Asp150=) NC_000010.11:90918867:A:G Identity +NM_004975.4:c.45G>C NP_004966.1:p.Ser15= NC_000020.11:49482435:C:G p.(Ser15=) NC_000020.11:49482435:C:G p.(Ser15=) NC_000020.11:49482435:C:G Identity +NM_001077182.3:c.1422C>A NP_001070650.1:p.Val474= NC_000017.11:81536950:C:A p.(Val474=) NC_000017.11:81536950:C:A p.(Val474=) NC_000017.11:81536950:C:A Identity +NM_001363518.2:c.669C>T NP_001350447.1:p.Ile223= NC_000010.11:71362082:C:T p.(Ile223=) NC_000010.11:71362082:C:T p.(Ile223=) NC_000010.11:71362082:C:T Identity +NM_006059.4:c.336G>A NP_006050.3:p.Val112= NC_000009.12:131009549:G:A p.(Val112=) NC_000009.12:131009549:G:A p.(Val112=) NC_000009.12:131009549:G:A Identity +NM_001135.4:c.108G>A NP_001126.3:p.Pro36= NC_000015.10:88838699:G:A p.(Pro36=) NC_000015.10:88838699:G:A p.(Pro36=) NC_000015.10:88838699:G:A Identity +NM_000038.6:c.3213A>G NP_000029.2:p.Gln1071= NC_000005.10:112838806:A:G p.(Gln1071=) NC_000005.10:112838806:A:G p.(Gln1071=) NC_000005.10:112838806:A:G Identity +NM_001318369.2:c.549T>C NP_001305298.1:p.Thr183= NC_000011.10:20617874:T:C p.(Thr183=) NC_000011.10:20617874:T:C p.(Thr183=) NC_000011.10:20617874:T:C Identity +NM_001354663.2:c.2457T>C NP_001341592.1:p.Val819= NC_000003.12:193692069:T:C p.(Val819=) NC_000003.12:193692069:T:C p.(Val819=) NC_000003.12:193692069:T:C Identity +NM_001079802.2:c.960A>T NP_001073270.1:p.Leu320= NC_000009.12:105618007:A:T p.(Leu320=) NC_000009.12:105618007:A:T p.(Leu320=) NC_000009.12:105618007:A:T Identity +NM_020806.5:c.813T>C NP_065857.1:p.His271= NC_000014.9:66924276:T:C p.(His271=) NC_000014.9:66924276:T:C p.(His271=) NC_000014.9:66924276:T:C Identity +NM_001271466.4:c.2400C>T NP_001258395.2:p.Pro800= NC_000002.12:231370090:C:T p.(Pro800=) NC_000002.12:231370090:C:T p.(Pro800=) NC_000002.12:231370090:C:T Identity +NM_001291285.3:c.10414C>A NP_001278214.1:p.Arg3472= NC_000004.12:125451423:C:A p.(Arg3472=) NC_000004.12:125451423:C:A p.(Arg3472=) NC_000004.12:125451423:C:A Identity +NM_033109.5:c.1713G>A NP_149100.2:p.Val571= NC_000002.12:55646283:C:T p.(Val571=) NC_000002.12:55646283:C:T p.(Val571=) NC_000002.12:55646283:C:T Identity +NM_006662.3:c.6663C>T NP_006653.2:p.Ser2221= NC_000016.10:30734548:C:T p.(Ser2221=) NC_000016.10:30734548:C:T p.(Ser2221=) NC_000016.10:30734548:C:T Identity +NM_001130455.2:c.5709C>T NP_001123927.1:p.Ile1903= NC_000002.12:71674234:C:T p.(Ile1903=) NC_000002.12:71674234:C:T p.(Ile1903=) NC_000002.12:71674234:C:T Identity +NM_000362.5:c.303G>A NP_000353.1:p.Gln101= NC_000022.11:32857346:G:A p.(Gln101=) NC_000022.11:32857346:G:A p.(Gln101=) NC_000022.11:32857346:G:A Identity +NM_001145853.1:c.1605G>C NP_001139325.1:p.Leu535= NC_000004.12:6301399:G:C p.(Leu535=) NC_000004.12:6301399:G:C p.(Leu535=) NC_000004.12:6301399:G:C Identity +NM_001135597.2:c.1329C>T NP_001129069.1:p.Ser443= NC_000002.12:55343651:G:A p.(Ser443=) NC_000002.12:55343651:G:A p.(Ser443=) NC_000002.12:55343651:G:A Identity +NM_145290.4:c.3615C>T NP_660333.2:p.Gly1205= NC_000004.12:22388055:G:A p.(Gly1205=) NC_000004.12:22388055:G:A p.(Gly1205=) NC_000004.12:22388055:G:A Identity +NM_000076.2:c.489T>G NP_000067.1:p.Ala163= NC_000011.10:2885000:A:C p.(Ala163=) NC_000011.10:2885000:A:C p.(Ala163=) NC_000011.10:2885000:A:C Identity +NM_001349896.1:c.504G>A NP_001336825.1:p.Val168= NC_000022.11:26470810:C:T p.(Val168=) NC_000022.11:26470810:C:T p.(Val168=) NC_000022.11:26470810:C:T Identity +NM_000548.5:c.1620C>T NP_000539.2:p.Ser540= NC_000016.10:2065538:C:T p.(Ser540=) NC_000016.10:2065538:C:T p.(Ser540=) NC_000016.10:2065538:C:T Identity +NM_000109.4:c.7482C>T NP_000100.3:p.Asp2494= NC_000023.11:31773995:G:A p.(Asp2494=) NC_000023.11:31773995:G:A p.(Asp2494=) NC_000023.11:31773995:G:A Identity +NM_001365819.1:c.1117C>T NP_001352748.1:p.Leu373= NC_000022.11:50465303:G:A p.(Leu373=) NC_000022.11:50465303:G:A p.(Leu373=) NC_000022.11:50465303:G:A Identity +NM_000721.4:c.207G>C NP_000712.2:p.Leu69= NC_000001.11:181483950:G:C p.(Leu69=) NC_000001.11:181483950:G:C p.(Leu69=) NC_000001.11:181483950:G:C Identity +NM_000260.4:c.3708C>T NP_000251.3:p.Val1236= NC_000011.10:77190096:C:T p.(Val1236=) NC_000011.10:77190096:C:T p.(Val1236=) NC_000011.10:77190096:C:T Identity +NM_003906.5:c.3889C>T NP_003897.2:p.Leu1297= NC_000021.9:46256831:G:A p.(Leu1297=) NC_000021.9:46256831:G:A p.(Leu1297=) NC_000021.9:46256831:G:A Identity +NM_001039958.2:c.834T>C NP_001035047.1:p.Cys278= NC_000015.10:89777190:T:C p.(Cys278=) NC_000015.10:89777190:T:C p.(Cys278=) NC_000015.10:89777190:T:C Identity +NM_001242881.2:c.87G>A NP_001229810.1:p.Pro29= NC_000013.11:110615760:G:A p.(Pro29=) NC_000013.11:110615760:G:A p.(Pro29=) NC_000013.11:110615760:G:A Identity +NM_002618.4:c.9C>G NP_002609.1:p.Ser3= NC_000002.12:61017767:C:G p.(Ser3=) NC_000002.12:61017767:C:G p.(Ser3=) NC_000002.12:61017767:C:G Identity +NM_001014797.3:c.366G>A NP_001014797.1:p.Gly122= NC_000010.11:77637276:C:T p.(Gly122=) NC_000010.11:77637276:C:T p.(Gly122=) NC_000010.11:77637276:C:T Identity +NM_004092.4:c.240G>T NP_004083.3:p.Pro80= NC_000010.11:133370605:C:A p.(Pro80=) NC_000010.11:133370605:C:A p.(Pro80=) NC_000010.11:133370605:C:A Identity +NM_000823.4:c.828C>T NP_000814.2:p.Asp276= NC_000007.14:30974985:C:T p.(Asp276=) NC_000007.14:30974985:C:T p.(Asp276=) NC_000007.14:30974985:C:T Identity +NM_001372.4:c.9480G>A NP_001363.2:p.Ala3160= NC_000017.11:11834870:G:A p.(Ala3160=) NC_000017.11:11834870:G:A p.(Ala3160=) NC_000017.11:11834870:G:A Identity +NM_001099922.3:c.2703C>T NP_001093392.1:p.Ala901= NC_000023.11:111744674:C:T p.(Ala901=) NC_000023.11:111744674:C:T p.(Ala901=) NC_000023.11:111744674:C:T Identity +NM_000217.3:c.489G>A NP_000208.2:p.Ser163= NC_000012.12:4911866:G:A p.(Ser163=) NC_000012.12:4911866:G:A p.(Ser163=) NC_000012.12:4911866:G:A Identity +NM_001105243.2:c.882C>T NP_001098713.1:p.His294= NC_000023.11:100407715:G:A p.(His294=) NC_000023.11:100407715:G:A p.(His294=) NC_000023.11:100407715:G:A Identity +NM_001193455.2:c.1623G>A NP_001180384.1:p.Glu541= NC_000005.10:6605281:C:T p.(Glu541=) NC_000005.10:6605281:C:T p.(Glu541=) NC_000005.10:6605281:C:T Identity +NM_018706.7:c.963G>A NP_061176.4:p.Pro321= NC_000010.11:12089230:G:A p.(Pro321=) NC_000010.11:12089230:G:A p.(Pro321=) NC_000010.11:12089230:G:A Identity +NM_000066.4:c.930C>T NP_000057.3:p.Ser310= NC_000001.11:56945995:G:A p.(Ser310=) NC_000001.11:56945995:G:A p.(Ser310=) NC_000001.11:56945995:G:A Identity +NM_080679.3:c.4189C>T NP_542410.2:p.Leu1397= NC_000006.12:33165788:G:A p.(Leu1397=) NC_000006.12:33165788:G:A p.(Leu1397=) NC_000006.12:33165788:G:A Identity +NM_002291.3:c.4812G>A NP_002282.2:p.Lys1604= NC_000007.14:107929138:C:T p.(Lys1604=) NC_000007.14:107929138:C:T p.(Lys1604=) NC_000007.14:107929138:C:T Identity +NM_000092.5:c.2250A>G NP_000083.3:p.Pro750= NC_000002.12:227059537:T:C p.(Pro750=) NC_000002.12:227059537:T:C p.(Pro750=) NC_000002.12:227059537:T:C Identity +NM_020928.2:c.1113G>A NP_065979.1:p.Gln371= NC_000005.10:61490864:G:A p.(Gln371=) NC_000005.10:61490864:G:A p.(Gln371=) NC_000005.10:61490864:G:A Identity +NM_000319.5:c.511C>T NP_000310.2:p.Leu171= NC_000012.12:7199072:C:T p.(Leu171=) NC_000012.12:7199072:C:T p.(Leu171=) NC_000012.12:7199072:C:T Identity +NM_001013838.3:c.1629C>T NP_001013860.1:p.Ile543= NC_000016.10:67649112:C:T p.(Ile543=) NC_000016.10:67649112:C:T p.(Ile543=) NC_000016.10:67649112:C:T Identity +NM_001135649.3:c.360C>G NP_001129121.1:p.Pro120= NC_000002.12:88452175:G:C p.(Pro120=) NC_000002.12:88452175:G:C p.(Pro120=) NC_000002.12:88452175:G:C Identity +NM_005477.3:c.990G>C NP_005468.1:p.Pro330= NC_000015.10:73343603:C:G p.(Pro330=) NC_000015.10:73343603:C:G p.(Pro330=) NC_000015.10:73343603:C:G Identity +NM_001130955.2:c.2718C>T NP_001124427.2:p.Thr906= NC_000019.10:7467647:C:T p.(Thr906=) NC_000019.10:7467647:C:T p.(Thr906=) NC_000019.10:7467647:C:T Identity +NM_001136536.5:c.351G>A NP_001130008.2:p.Gly117= NC_000004.12:36293527:G:A p.(Gly117=) NC_000004.12:36293527:G:A p.(Gly117=) NC_000004.12:36293527:G:A Identity +NM_001165966.2:c.2151C>T NP_001159438.1:p.Ile717= NC_000017.11:6463778:G:A p.(Ile717=) NC_000017.11:6463778:G:A p.(Ile717=) NC_000017.11:6463778:G:A Identity +NM_001190720.3:c.1632C>T NP_001177649.2:p.Ile544= NC_000008.11:42322138:C:T p.(Ile544=) NC_000008.11:42322138:C:T p.(Ile544=) NC_000008.11:42322138:C:T Identity +NM_001075098.4:c.339C>G NP_001068566.1:p.Leu113= NC_000006.12:39925756:G:C p.(Leu113=) NC_000006.12:39925756:G:C p.(Leu113=) NC_000006.12:39925756:G:C Identity +NM_001407969.1:c.1485A>C NP_001394898.1:p.Ser495= NC_000017.11:43091441:T:G p.(Ser495=) NC_000017.11:43091441:T:G p.(Ser495=) NC_000017.11:43091441:T:G Identity +NM_001130442.3:c.237G>T NP_001123914.1:p.Leu79= NC_000011.10:533818:C:A p.(Leu79=) NC_000011.10:533818:C:A p.(Leu79=) NC_000011.10:533818:C:A Identity +NM_001853.4:c.1026G>C NP_001844.3:p.Ala342= NC_000020.11:62829471:G:C p.(Ala342=) NC_000020.11:62829471:G:C p.(Ala342=) NC_000020.11:62829471:G:C Identity +NM_144499.3:c.231C>T NP_653082.1:p.Ile77= NC_000003.12:50193345:C:T p.(Ile77=) NC_000003.12:50193345:C:T p.(Ile77=) NC_000003.12:50193345:C:T Identity +NM_152443.3:c.522C>A NP_689656.2:p.Ser174= NC_000014.9:67727053:C:A p.(Ser174=) NC_000014.9:67727053:C:A p.(Ser174=) NC_000014.9:67727053:C:A Identity +NM_000548.5:c.4164T>C NP_000539.2:p.Ser1388= NC_000016.10:2084385:T:C p.(Ser1388=) NC_000016.10:2084385:T:C p.(Ser1388=) NC_000016.10:2084385:T:C Identity +NM_001277764.2:c.163A>C NP_001264693.1:p.Arg55= NC_000015.10:90232370:T:G p.(Arg55=) NC_000015.10:90232370:T:G p.(Arg55=) NC_000015.10:90232370:T:G Identity +NM_001621.5:c.2106C>T NP_001612.1:p.Ser702= NC_000007.14:17339930:C:T p.(Ser702=) NC_000007.14:17339930:C:T p.(Ser702=) NC_000007.14:17339930:C:T Identity +NM_001379500.1:c.549C>T NP_001366429.1:p.Phe183= NC_000021.9:45468683:C:T p.(Phe183=) NC_000021.9:45468683:C:T p.(Phe183=) NC_000021.9:45468683:C:T Identity +NM_001098.3:c.2169G>A NP_001089.1:p.Lys723= NC_000022.11:41527982:G:A p.(Lys723=) NC_000022.11:41527982:G:A p.(Lys723=) NC_000022.11:41527982:G:A Identity +NM_001135649.3:c.1014C>T NP_001129121.1:p.Arg338= NC_000002.12:88448455:G:A p.(Arg338=) NC_000002.12:88448455:G:A p.(Arg338=) NC_000002.12:88448455:G:A Identity +NM_001135599.4:c.627C>G NP_001129071.1:p.Thr209= NC_000001.11:218434113:C:G p.(Thr209=) NC_000001.11:218434113:C:G p.(Thr209=) NC_000001.11:218434113:C:G Identity +NM_001351693.2:c.519C>T NP_001338622.1:p.Phe173= NC_000019.10:39416951:C:T p.(Phe173=) NC_000019.10:39416951:C:T p.(Phe173=) NC_000019.10:39416951:C:T Identity +NM_001134670.2:c.51C>T NP_001128142.1:p.Ser17= NC_000010.11:97584753:C:T p.(Ser17=) NC_000010.11:97584753:C:T p.(Ser17=) NC_000010.11:97584753:C:T Identity +NM_000109.4:c.3892C>T NP_000100.3:p.Leu1298= NC_000023.11:32441184:G:A p.(Leu1298=) NC_000023.11:32441184:G:A p.(Leu1298=) NC_000023.11:32441184:G:A Identity +NM_001386500.1:c.6615T>A NP_001373429.1:p.Val2205= NC_000001.11:11124544:A:T p.(Val2205=) NC_000001.11:11124544:A:T p.(Val2205=) NC_000001.11:11124544:A:T Identity +NM_001304482.2:c.4263C>G NP_001291411.1:p.Pro1421= NC_000003.12:47412914:C:G p.(Pro1421=) NC_000003.12:47412914:C:G p.(Pro1421=) NC_000003.12:47412914:C:G Identity +NM_000093.5:c.2694C>T NP_000084.3:p.Gly898= NC_000009.12:134789201:C:T p.(Gly898=) NC_000009.12:134789201:C:T p.(Gly898=) NC_000009.12:134789201:C:T Identity +NM_001407571.1:c.282G>C NP_001394500.1:p.Leu94= NC_000017.11:43099826:C:G p.(Leu94=) NC_000017.11:43099826:C:G p.(Leu94=) NC_000017.11:43099826:C:G Identity +NM_001324192.1:c.531C>A NP_001311121.1:p.Ala177= NC_000020.11:3889630:C:A p.(Ala177=) NC_000020.11:3889630:C:A p.(Ala177=) NC_000020.11:3889630:C:A Identity +NM_002890.3:c.432C>G NP_002881.1:p.Pro144= NC_000005.10:87268882:C:G p.(Pro144=) NC_000005.10:87268882:C:G p.(Pro144=) NC_000005.10:87268882:C:G Identity +NM_001440.4:c.2304C>T NP_001431.1:p.Ile768= NC_000008.11:28737545:C:T p.(Ile768=) NC_000008.11:28737545:C:T p.(Ile768=) NC_000008.11:28737545:C:T Identity +NM_001283050.2:c.426C>G NP_001269979.1:p.Val142= NC_000021.9:44235542:G:C p.(Val142=) NC_000021.9:44235542:G:C p.(Val142=) NC_000021.9:44235542:G:C Identity +NM_001388492.1:c.6399C>A NP_001375421.1:p.Ala2133= NC_000004.12:3209933:C:A p.(Ala2133=) NC_000004.12:3209933:C:A p.(Ala2133=) NC_000004.12:3209933:C:A Identity +NM_144670.6:c.1287A>G NP_653271.3:p.Glu429= NC_000012.12:8843171:A:G p.(Glu429=) NC_000012.12:8843171:A:G p.(Glu429=) NC_000012.12:8843171:A:G Identity +NM_005502.4:c.5406C>A NP_005493.2:p.Ile1802= NC_000009.12:104794486:G:T p.(Ile1802=) NC_000009.12:104794486:G:T p.(Ile1802=) NC_000009.12:104794486:G:T Identity +NM_001220.5:c.1914G>A NP_001211.3:p.Glu638= NC_000007.14:44220148:C:T p.(Glu638=) NC_000007.14:44220148:C:T p.(Glu638=) NC_000007.14:44220148:C:T Identity +NM_001321309.2:c.3618C>T NP_001308238.1:p.Ala1206= NC_000003.12:123657267:G:A p.(Ala1206=) NC_000003.12:123657267:G:A p.(Ala1206=) NC_000003.12:123657267:G:A Identity +NM_001130955.2:c.1755C>T NP_001124427.2:p.Ile585= NC_000019.10:7462179:C:T p.(Ile585=) NC_000019.10:7462179:C:T p.(Ile585=) NC_000019.10:7462179:C:T Identity +NM_001135649.3:c.834C>A NP_001129121.1:p.Pro278= NC_000002.12:88448635:G:T p.(Pro278=) NC_000002.12:88448635:G:T p.(Pro278=) NC_000002.12:88448635:G:T Identity +NM_000260.4:c.1785C>G NP_000251.3:p.Ala595= NC_000011.10:77166149:C:G p.(Ala595=) NC_000011.10:77166149:C:G p.(Ala595=) NC_000011.10:77166149:C:G Identity +NM_001128431.4:c.930C>T NP_001121903.1:p.Leu310= NC_000008.11:22415947:C:T p.(Leu310=) NC_000008.11:22415947:C:T p.(Leu310=) NC_000008.11:22415947:C:T Identity +NM_052876.4:c.399G>A NP_443108.1:p.Leu133= NC_000019.10:13135605:G:A p.(Leu133=) NC_000019.10:13135605:G:A p.(Leu133=) NC_000019.10:13135605:G:A Identity +NM_005751.5:c.4098C>T NP_005742.4:p.His1366= NC_000007.14:92022958:C:T p.(His1366=) NC_000007.14:92022958:C:T p.(His1366=) NC_000007.14:92022958:C:T Identity +NM_018082.6:c.30C>T NP_060552.4:p.Asn10= NC_000012.12:106357908:C:T p.(Asn10=) NC_000012.12:106357908:C:T p.(Asn10=) NC_000012.12:106357908:C:T Identity +NM_001042572.3:c.978C>G NP_001036037.1:p.Ser326= NC_000015.10:92942993:C:G p.(Ser326=) NC_000015.10:92942993:C:G p.(Ser326=) NC_000015.10:92942993:C:G Identity +NM_000489.6:c.216G>A NP_000480.3:p.Lys72= NC_000023.11:77697608:C:T p.(Lys72=) NC_000023.11:77697608:C:T p.(Lys72=) NC_000023.11:77697608:C:T Identity +NM_001165962.2:c.1581A>G NP_001159434.1:p.Ala527= NC_000017.11:12995809:T:C p.(Ala527=) NC_000017.11:12995809:T:C p.(Ala527=) NC_000017.11:12995809:T:C Identity +NM_001037333.3:c.3348C>T NP_001032410.1:p.Gly1116= NC_000005.10:157389328:C:T p.(Gly1116=) NC_000005.10:157389328:C:T p.(Gly1116=) NC_000005.10:157389328:C:T Identity +NM_004311.4:c.45C>T NP_004302.1:p.Asp15= NC_000010.11:102705447:G:A p.(Asp15=) NC_000010.11:102705447:G:A p.(Asp15=) NC_000010.11:102705447:G:A Identity +NM_001301226.2:c.618C>A NP_001288155.1:p.Ser206= NC_000009.12:35684752:G:T p.(Ser206=) NC_000009.12:35684752:G:T p.(Ser206=) NC_000009.12:35684752:G:T Identity +NM_001111097.3:c.735T>C NP_001104567.1:p.Tyr245= NC_000008.11:55966721:T:C p.(Tyr245=) NC_000008.11:55966721:T:C p.(Tyr245=) NC_000008.11:55966721:T:C Identity +NM_002336.3:c.2544G>A NP_002327.2:p.Thr848= NC_000012.12:12159075:C:T p.(Thr848=) NC_000012.12:12159075:C:T p.(Thr848=) NC_000012.12:12159075:C:T Identity +NM_003327.4:c.351C>T NP_003318.1:p.Asp117= NC_000001.11:1213010:G:A p.(Asp117=) NC_000001.11:1213010:G:A p.(Asp117=) NC_000001.11:1213010:G:A Identity +NM_001195573.1:c.2961G>C NP_001182502.1:p.Leu987= NC_000014.9:95106066:C:G p.(Leu987=) NC_000014.9:95106066:C:G p.(Leu987=) NC_000014.9:95106066:C:G Identity +NM_001130991.3:c.2331C>G NP_001124463.1:p.Ala777= NC_000011.10:119048292:G:C p.(Ala777=) NC_000011.10:119048292:G:C p.(Ala777=) NC_000011.10:119048292:G:C Identity +NM_001161357.2:c.169C>T NP_001154829.1:p.Leu57= NC_000019.10:17764423:C:T p.(Leu57=) NC_000019.10:17764423:C:T p.(Leu57=) NC_000019.10:17764423:C:T Identity +NM_001145847.2:c.1293C>T NP_001139319.1:p.Val431= NC_000004.12:16006671:G:A p.(Val431=) NC_000004.12:16006671:G:A p.(Val431=) NC_000004.12:16006671:G:A Identity +NM_000540.3:c.7386C>T NP_000531.2:p.Pro2462= NC_000019.10:38500667:C:T p.(Pro2462=) NC_000019.10:38500667:C:T p.(Pro2462=) NC_000019.10:38500667:C:T Identity +NM_000245.4:c.990T>C NP_000236.2:p.Ala330= NC_000007.14:116700073:T:C p.(Ala330=) NC_000007.14:116700073:T:C p.(Ala330=) NC_000007.14:116700073:T:C Identity +NM_000434.4:c.1176G>A NP_000425.1:p.Leu392= NC_000006.12:31859790:C:T p.(Leu392=) NC_000006.12:31859790:C:T p.(Leu392=) NC_000006.12:31859790:C:T Identity +NM_003327.4:c.687C>A NP_003318.1:p.Gly229= NC_000001.11:1211779:G:T p.(Gly229=) NC_000001.11:1211779:G:T p.(Gly229=) NC_000001.11:1211779:G:T Identity +NM_000038.6:c.150A>G NP_000029.2:p.Gln50= NC_000005.10:112766339:A:G p.(Gln50=) NC_000005.10:112766339:A:G p.(Gln50=) NC_000005.10:112766339:A:G Identity +NM_001037631.3:c.87C>T NP_001032720.1:p.Leu29= NC_000002.12:203868028:C:T p.(Leu29=) NC_000002.12:203868028:C:T p.(Leu29=) NC_000002.12:203868028:C:T Identity +NM_000562.3:c.705C>T NP_000553.1:p.Asp235= NC_000001.11:56883530:C:T p.(Asp235=) NC_000001.11:56883530:C:T p.(Asp235=) NC_000001.11:56883530:C:T Identity +NM_004104.5:c.7257G>C NP_004095.4:p.Ala2419= NC_000017.11:82079497:C:G p.(Ala2419=) NC_000017.11:82079497:C:G p.(Ala2419=) NC_000017.11:82079497:C:G Identity +NM_000109.4:c.1527T>C NP_000100.3:p.Val509= NC_000023.11:32595807:A:G p.(Val509=) NC_000023.11:32595807:A:G p.(Val509=) NC_000023.11:32595807:A:G Identity +NM_001354705.2:c.1135C>A NP_001341634.1:p.Arg379= NC_000012.12:57572099:C:A p.(Arg379=) NC_000012.12:57572099:C:A p.(Arg379=) NC_000012.12:57572099:C:A Identity +NM_001145252.3:c.579C>T NP_001138724.1:p.His193= NC_000023.11:47627327:G:A p.(His193=) NC_000023.11:47627327:G:A p.(His193=) NC_000023.11:47627327:G:A Identity +NM_001256820.2:c.315A>G NP_001243749.1:p.Leu105= NC_000001.11:155904316:T:C p.(Leu105=) NC_000001.11:155904316:T:C p.(Leu105=) NC_000001.11:155904316:T:C Identity +NM_001077525.3:c.585C>T NP_001070993.1:p.Val195= NC_000003.12:9671077:C:T p.(Val195=) NC_000003.12:9671077:C:T p.(Val195=) NC_000003.12:9671077:C:T Identity +NM_001039885.3:c.537C>T NP_001034974.1:p.Thr179= NC_000019.10:46755986:C:T p.(Thr179=) NC_000019.10:46755986:C:T p.(Thr179=) NC_000019.10:46755986:C:T Identity +NM_001029882.3:c.3381C>G NP_001025053.1:p.Leu1127= NC_000001.11:27548734:G:C p.(Leu1127=) NC_000001.11:27548734:G:C p.(Leu1127=) NC_000001.11:27548734:G:C Identity +NM_000540.3:c.7701G>A NP_000531.2:p.Pro2567= NC_000019.10:38502592:G:A p.(Pro2567=) NC_000019.10:38502592:G:A p.(Pro2567=) NC_000019.10:38502592:G:A Identity +NM_001267578.2:c.681C>T NP_001254507.1:p.Asp227= NC_000001.11:179901326:C:T p.(Asp227=) NC_000001.11:179901326:C:T p.(Asp227=) NC_000001.11:179901326:C:T Identity +NM_001135649.3:c.207C>T NP_001129121.1:p.Ala69= NC_000002.12:88452328:G:A p.(Ala69=) NC_000002.12:88452328:G:A p.(Ala69=) NC_000002.12:88452328:G:A Identity +NM_024409.4:c.96G>T NP_077720.1:p.Pro32= NC_000002.12:231925709:C:A p.(Pro32=) NC_000002.12:231925709:C:A p.(Pro32=) NC_000002.12:231925709:C:A Identity +NM_001190274.2:c.324G>A NP_001177203.1:p.Pro108= NC_000002.12:47839677:C:T p.(Pro108=) NC_000002.12:47839677:C:T p.(Pro108=) NC_000002.12:47839677:C:T Identity +NM_001330454.2:c.717A>G NP_001317383.1:p.Pro239= NC_000016.10:3523160:A:G p.(Pro239=) NC_000016.10:3523160:A:G p.(Pro239=) NC_000016.10:3523160:A:G Identity +NM_001304482.2:c.2637G>A NP_001291411.1:p.Gly879= NC_000003.12:47410812:G:A p.(Gly879=) NC_000003.12:47410812:G:A p.(Gly879=) NC_000003.12:47410812:G:A Identity +NM_001365819.1:c.2829C>G NP_001352748.1:p.Pro943= NC_000022.11:50461535:G:C p.(Pro943=) NC_000022.11:50461535:G:C p.(Pro943=) NC_000022.11:50461535:G:C Identity +NM_000780.4:c.453T>C NP_000771.2:p.Arg151= NC_000008.11:58497058:A:G p.(Arg151=) NC_000008.11:58497058:A:G p.(Arg151=) NC_000008.11:58497058:A:G Identity +NM_000059.4:c.6246A>G NP_000050.3:p.Glu2082= NC_000013.11:32340600:A:G p.(Glu2082=) NC_000013.11:32340600:A:G p.(Glu2082=) NC_000013.11:32340600:A:G Identity +NM_012469.4:c.2154C>T NP_036601.2:p.Ile718= NC_000020.11:64027106:C:T p.(Ile718=) NC_000020.11:64027106:C:T p.(Ile718=) NC_000020.11:64027106:C:T Identity +NM_032888.4:c.5094G>A NP_116277.2:p.Gln1698= NC_000009.12:114306674:G:A p.(Gln1698=) NC_000009.12:114306674:G:A p.(Gln1698=) NC_000009.12:114306674:G:A Identity +NM_003823.4:c.642C>G NP_003814.1:p.Ala214= NC_000020.11:63698301:C:G p.(Ala214=) NC_000020.11:63698301:C:G p.(Ala214=) NC_000020.11:63698301:C:G Identity +NM_001321431.2:c.7950C>T NP_001308360.1:p.Ser2650= NC_000019.10:8072185:G:A p.(Ser2650=) NC_000019.10:8072185:G:A p.(Ser2650=) NC_000019.10:8072185:G:A Identity +NM_001111125.3:c.3483G>A NP_001104595.1:p.Ser1161= NC_000023.11:53235800:C:T p.(Ser1161=) NC_000023.11:53235800:C:T p.(Ser1161=) NC_000023.11:53235800:C:T Identity +NM_001014797.3:c.694C>A NP_001014797.1:p.Arg232= NC_000010.11:77184824:G:T p.(Arg232=) NC_000010.11:77184824:G:T p.(Arg232=) NC_000010.11:77184824:G:T Identity +NM_001190274.2:c.134_157del NP_001177203.1:p.Pro45_Gln52del NC_000002.12:47905563:GCTGCTGCTGCGGCGGCGGCGGAGGCTGCTGCTG:GCTGCTGCTG p.(Pro45_Gln52del) NC_000002.12:47905563:GCTGCTGCTGCGGCGGCGGCGGAGGCTGCTGCTG:GCTGCTGCTG p.(Pro45_Gln52del) NC_000002.12:47905563:GCTGCTGCTGCGGCGGCGGCGGAG: Identity +NM_001136139.4:c.192G>A NP_001129611.1:p.Gln64= NC_000019.10:1632358:C:T p.(Gln64=) NC_000019.10:1632358:C:T p.(Gln64=) NC_000019.10:1632358:C:T Identity +NM_001024847.3:c.651C>T NP_001020018.1:p.Asn217= NC_000003.12:30671758:C:T p.(Asn217=) NC_000003.12:30671758:C:T p.(Asn217=) NC_000003.12:30671758:C:T Identity +NM_001193306.2:c.156A>T NP_001180235.1:p.Gly52= NC_000019.10:51746838:T:A p.(Gly52=) NC_000019.10:51746838:T:A p.(Gly52=) NC_000019.10:51746838:T:A Identity +NM_001261826.3:c.3408C>G NP_001248755.1:p.Val1136= NC_000019.10:2109149:G:C p.(Val1136=) NC_000019.10:2109149:G:C p.(Val1136=) NC_000019.10:2109149:G:C Identity +NM_003924.4:c.387G>A NP_003915.2:p.Glu129= NC_000004.12:41747390:C:T p.(Glu129=) NC_000004.12:41747390:C:T p.(Glu129=) NC_000004.12:41747390:C:T Identity +NM_020778.5:c.3984G>A NP_065829.4:p.Pro1328= NC_000015.10:84859793:G:A p.(Pro1328=) NC_000015.10:84859793:G:A p.(Pro1328=) NC_000015.10:84859793:G:A Identity +NM_001369346.1:c.108G>A NP_001356275.1:p.Leu36= NC_000002.12:25799505:C:T p.(Leu36=) NC_000002.12:25799505:C:T p.(Leu36=) NC_000002.12:25799505:C:T Identity +NM_030916.3:c.1500C>A NP_112178.2:p.Gly500= NC_000001.11:161072693:G:T p.(Gly500=) NC_000001.11:161072693:G:T p.(Gly500=) NC_000001.11:161072693:G:T Identity +NM_001077397.1:c.912C>A NP_001070865.1:p.Thr304= NC_000001.11:234608582:G:T p.(Thr304=) NC_000001.11:234608582:G:T p.(Thr304=) NC_000001.11:234608582:G:T Identity +NM_000118.4:c.1845G>C NP_000109.1:p.Ser615= NC_000009.12:127815949:C:G p.(Ser615=) NC_000009.12:127815949:C:G p.(Ser615=) NC_000009.12:127815949:C:G Identity +NM_021102.4:c.168C>T NP_066925.1:p.Tyr56= NC_000019.10:38283687:C:T p.(Tyr56=) NC_000019.10:38283687:C:T p.(Tyr56=) NC_000019.10:38283687:C:T Identity +NM_000760.4:c.1683C>T NP_000751.1:p.His561= NC_000001.11:36468114:G:A p.(His561=) NC_000001.11:36468114:G:A p.(His561=) NC_000001.11:36468114:G:A Identity +NM_001100913.3:c.696G>A NP_001094383.2:p.Pro232= NC_000014.9:105368493:G:A p.(Pro232=) NC_000014.9:105368493:G:A p.(Pro232=) NC_000014.9:105368493:G:A Identity +NM_001130823.3:c.2337C>T NP_001124295.1:p.Val779= NC_000019.10:10149896:G:A p.(Val779=) NC_000019.10:10149896:G:A p.(Val779=) NC_000019.10:10149896:G:A Identity +NM_000527.5:c.1203C>A NP_000518.1:p.Leu401= NC_000019.10:11113293:C:A p.(Leu401=) NC_000019.10:11113293:C:A p.(Leu401=) NC_000019.10:11113293:C:A Identity +NM_080679.3:c.4659T>G NP_542410.2:p.Arg1553= NC_000006.12:33164356:A:C p.(Arg1553=) NC_000006.12:33164356:A:C p.(Arg1553=) NC_000006.12:33164356:A:C Identity +NM_001256876.3:c.264C>T NP_001243805.1:p.Ser88= NC_000009.12:711029:C:T p.(Ser88=) NC_000009.12:711029:C:T p.(Ser88=) NC_000009.12:711029:C:T Identity +NM_000402.4:c.1143G>A NP_000393.4:p.Gly381= NC_000023.11:154532800:C:T p.(Gly381=) NC_000023.11:154532800:C:T p.(Gly381=) NC_000023.11:154532800:C:T Identity +NM_001848.3:c.2952C>T NP_001839.2:p.Arg984= NC_000021.9:46003877:C:T p.(Arg984=) NC_000021.9:46003877:C:T p.(Arg984=) NC_000021.9:46003877:C:T Identity +NM_014974.3:c.834C>T NP_055789.1:p.Val278= NC_000010.11:415793:G:A p.(Val278=) NC_000010.11:415793:G:A p.(Val278=) NC_000010.11:415793:G:A Identity +NM_001046.3:c.288GGC[5] NP_001037.1:p.Ala106_Ala107del NC_000005.10:128084239:GCGGCGGCGGCGGCGGCGGCGGC:GCGGCGGCGGCGGCGGC p.(Ala106_Ala107del) NC_000005.10:128084241:G:GGCGGCGGCGGCGGC ERR:Parse ERR:Parse Identity +NM_080679.3:c.1443T>C NP_542410.2:p.Asp481= NC_000006.12:33178443:A:G p.(Asp481=) NC_000006.12:33178443:A:G p.(Asp481=) NC_000006.12:33178443:A:G Identity +NM_001135.4:c.909C>T NP_001126.3:p.Ala303= NC_000015.10:88843505:C:T p.(Ala303=) NC_000015.10:88843505:C:T p.(Ala303=) NC_000015.10:88843505:C:T Identity +NM_001310332.2:c.2316C>T NP_001297261.1:p.His772= NC_000014.9:24157938:C:T p.(His772=) NC_000014.9:24157938:C:T p.(His772=) NC_000014.9:24157938:C:T Identity +NM_001081676.2:c.1020C>A NP_001075145.1:p.Gly340= NC_000002.12:165162318:G:T p.(Gly340=) NC_000002.12:165162318:G:T p.(Gly340=) NC_000002.12:165162318:G:T Identity +NM_001039675.2:c.216G>A NP_001034764.1:p.Lys72= NC_000015.10:90936294:G:A p.(Lys72=) NC_000015.10:90936294:G:A p.(Lys72=) NC_000015.10:90936294:G:A Identity +NM_001011.4:c.301C>T NP_001002.1:p.Leu101= NC_000002.12:3577718:C:T p.(Leu101=) NC_000002.12:3577718:C:T p.(Leu101=) NC_000002.12:3577718:C:T Identity +NM_003919.3:c.912T>G NP_003910.1:p.Pro304= NC_000007.14:94600770:A:C p.(Pro304=) NC_000007.14:94600770:A:C p.(Pro304=) NC_000007.14:94600770:A:C Identity +NM_000430.4:c.75A>G NP_000421.1:p.Glu25= NC_000017.11:2665413:A:G p.(Glu25=) NC_000017.11:2665413:A:G p.(Glu25=) NC_000017.11:2665413:A:G Identity +NM_001039885.3:c.648G>A NP_001034974.1:p.Arg216= NC_000019.10:46756097:G:A p.(Arg216=) NC_000019.10:46756097:G:A p.(Arg216=) NC_000019.10:46756097:G:A Identity +LRG_705t1:c.726G>A LRG_705p1:p.Glu242= NC_000016.10:724719:C:T ERR:Data provider error: ValueError: Transcript LRG_705t1 not found ERR:Data provider error: ValueError: Transcript LRG_705t1 not found ERR:AlignmentMapper(tx_ac=LRG_705t1, alt_ac=LRG_705t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_705t1, alt_ac=LRG_705t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_705t1 not found +NM_001032409.3:c.210C>A NP_001027581.1:p.Leu70= NC_000012.12:112908564:C:A p.(Leu70=) NC_000012.12:112908564:C:A p.(Leu70=) NC_000012.12:112908564:C:A Identity +NM_005477.3:c.3144C>T NP_005468.1:p.Ser1048= NC_000015.10:73322948:G:A p.(Ser1048=) NC_000015.10:73322948:G:A p.(Ser1048=) NC_000015.10:73322948:G:A Identity +NM_000214.3:c.1866G>C NP_000205.1:p.Thr622= NC_000020.11:10646957:C:G p.(Thr622=) NC_000020.11:10646957:C:G p.(Thr622=) NC_000020.11:10646957:C:G Identity +NM_021619.3:c.882G>A NP_067632.2:p.Thr294= NC_000009.12:130681446:G:A p.(Thr294=) NC_000009.12:130681446:G:A p.(Thr294=) NC_000009.12:130681446:G:A Identity +NM_001318245.2:c.4183C>T NP_001305174.1:p.Leu1395= NC_000022.11:25876287:C:T p.(Leu1395=) NC_000022.11:25876287:C:T p.(Leu1395=) NC_000022.11:25876287:C:T Identity +NM_014510.3:c.7251T>C NP_055325.2:p.Pro2417= NC_000007.14:82953701:A:G p.(Pro2417=) NC_000007.14:82953701:A:G p.(Pro2417=) NC_000007.14:82953701:A:G Identity +NM_001321102.2:c.936C>T NP_001308031.1:p.Pro312= NC_000002.12:3388558:C:T p.(Pro312=) NC_000002.12:3388558:C:T p.(Pro312=) NC_000002.12:3388558:C:T Identity +NM_000587.4:c.1635C>T NP_000578.2:p.Cys545= NC_000005.10:40959593:C:T p.(Cys545=) NC_000005.10:40959593:C:T p.(Cys545=) NC_000005.10:40959593:C:T Identity +NM_001306079.2:c.123= NP_001293008.1:p.Thr41= NC_000002.12:27217916:T:T p.(Thr41=) NC_000002.12:27217916:T: p.(Thr41=) NC_000002.12:27217916:T:T Identity +NM_000140.5:c.291C>T NP_000131.2:p.Asp97= NC_000018.10:57573268:G:A p.(Asp97=) NC_000018.10:57573268:G:A p.(Asp97=) NC_000018.10:57573268:G:A Identity +NM_001365023.1:c.324G>A NP_001351952.1:p.Val108= NC_000009.12:74642468:G:A p.(Val108=) NC_000009.12:74642468:G:A p.(Val108=) NC_000009.12:74642468:G:A Identity +NM_001174089.2:c.855G>A NP_001167560.1:p.Gln285= NC_000020.11:3231422:C:T p.(Gln285=) NC_000020.11:3231422:C:T p.(Gln285=) NC_000020.11:3231422:C:T Identity +NM_003322.6:c.204G>C NP_003313.3:p.Gly68= NC_000006.12:35511792:C:G p.(Gly68=) NC_000006.12:35511792:C:G p.(Gly68=) NC_000006.12:35511792:C:G Identity +NM_001278511.2:c.2307T>G NP_001265440.1:p.Pro769= NC_000015.10:82663596:A:C p.(Pro769=) NC_000015.10:82663596:A:C p.(Pro769=) NC_000015.10:82663596:A:C Identity +NM_178857.6:c.618G>A NP_849188.4:p.Ser206= NC_000008.11:10616578:C:T p.(Ser206=) NC_000008.11:10616578:C:T p.(Ser206=) NC_000008.11:10616578:C:T Identity +NM_001195622.2:c.27A>G NP_001182551.1:p.Glu9= NC_000009.12:32544302:T:C p.(Glu9=) NC_000009.12:32544302:T:C p.(Glu9=) NC_000009.12:32544302:T:C Identity +NM_001376.5:c.252C>G NP_001367.2:p.Leu84= NC_000014.9:101964942:C:G p.(Leu84=) NC_000014.9:101964942:C:G p.(Leu84=) NC_000014.9:101964942:C:G Identity +NM_000191.3:c.423T>C NP_000182.2:p.Cys141= NC_000001.11:23814263:A:G p.(Cys141=) NC_000001.11:23814263:A:G p.(Cys141=) NC_000001.11:23814263:A:G Identity +NM_001031710.3:c.1758A>G NP_001026880.2:p.Thr586= NC_000007.14:23174294:A:G p.(Thr586=) NC_000007.14:23174294:A:G p.(Thr586=) NC_000007.14:23174294:A:G Identity +NM_001195286.2:c.297C>T NP_001182215.1:p.Cys99= NC_000006.12:394900:C:T p.(Cys99=) NC_000006.12:394900:C:T p.(Cys99=) NC_000006.12:394900:C:T Identity +NM_001330454.2:c.849G>A NP_001317383.1:p.Arg283= NC_000016.10:3523292:G:A p.(Arg283=) NC_000016.10:3523292:G:A p.(Arg283=) NC_000016.10:3523292:G:A Identity +NM_000632.4:c.2424T>C NP_000623.2:p.Asn808= NC_000016.10:31325322:T:C p.(Asn808=) NC_000016.10:31325322:T:C p.(Asn808=) NC_000016.10:31325322:T:C Identity +NM_000486.6:c.51C>T NP_000477.1:p.Phe17= NC_000012.12:49950880:C:T p.(Phe17=) NC_000012.12:49950880:C:T p.(Phe17=) NC_000012.12:49950880:C:T Identity +NM_022915.5:c.279T>A NP_075066.1:p.Val93= NC_000002.12:223959632:T:A p.(Val93=) NC_000002.12:223959632:T:A p.(Val93=) NC_000002.12:223959632:T:A Identity +NM_000718.4:c.2778G>A NP_000709.1:p.Glu926= NC_000009.12:138023520:G:A p.(Glu926=) NC_000009.12:138023520:G:A p.(Glu926=) NC_000009.12:138023520:G:A Identity +NM_001370528.1:c.2169T>C NP_001357457.1:p.Tyr723= NC_000003.12:64099416:A:G p.(Tyr723=) NC_000003.12:64099416:A:G p.(Tyr723=) NC_000003.12:64099416:A:G Identity +NM_001308275.2:c.84G>T NP_001295204.1:p.Ala28= NC_000010.11:93758227:G:T p.(Ala28=) NC_000010.11:93758227:G:T p.(Ala28=) NC_000010.11:93758227:G:T Identity +NM_001377456.1:c.1164A>G NP_001364385.1:p.Ser388= NC_000016.10:56501413:T:C p.(Ser388=) NC_000016.10:56501413:T:C p.(Ser388=) NC_000016.10:56501413:T:C Identity +NM_001386500.1:c.6516G>A NP_001373429.1:p.Leu2172= NC_000001.11:11126631:C:T p.(Leu2172=) NC_000001.11:11126631:C:T p.(Leu2172=) NC_000001.11:11126631:C:T Identity +NM_001377456.1:c.237T>A NP_001364385.1:p.Thr79= NC_000016.10:56514560:A:T p.(Thr79=) NC_000016.10:56514560:A:T p.(Thr79=) NC_000016.10:56514560:A:T Identity +NM_014049.5:c.1314G>C NP_054768.2:p.Leu438= NC_000003.12:128908219:G:C p.(Leu438=) NC_000003.12:128908219:G:C p.(Leu438=) NC_000003.12:128908219:G:C Identity +NM_001145853.1:c.2145C>T NP_001139325.1:p.Ser715= NC_000004.12:6301939:C:T p.(Ser715=) NC_000004.12:6301939:C:T p.(Ser715=) NC_000004.12:6301939:C:T Identity +NM_001350411.1:c.69C>G NP_001337340.1:p.Pro23= NC_000006.12:71887091:C:G p.(Pro23=) NC_000006.12:71887091:C:G p.(Pro23=) NC_000006.12:71887091:C:G Identity +NM_001031737.3:c.42C>G NP_001026907.2:p.Pro14= NC_000016.10:726325:G:C p.(Pro14=) NC_000016.10:726325:G:C p.(Pro14=) NC_000016.10:726325:G:C Identity +NM_006245.4:c.436C>A NP_006236.1:p.Arg146= NC_000006.12:43007023:C:A p.(Arg146=) NC_000006.12:43007023:C:A p.(Arg146=) NC_000006.12:43007023:C:A Identity +NM_001193455.2:c.25C>A NP_001180384.1:p.Arg9= NC_000005.10:6632954:G:T p.(Arg9=) NC_000005.10:6632954:G:T p.(Arg9=) NC_000005.10:6632954:G:T Identity +NM_020778.5:c.3808C>T NP_065829.4:p.Leu1270= NC_000015.10:84858545:C:T p.(Leu1270=) NC_000015.10:84858545:C:T p.(Leu1270=) NC_000015.10:84858545:C:T Identity +NM_000518.5:c.258T>C NP_000509.1:p.Phe86= NC_000011.10:5226633:A:G p.(Phe86=) NC_000011.10:5226633:A:G p.(Phe86=) NC_000011.10:5226633:A:G Identity +NM_001320923.2:c.2343C>T NP_001307852.1:p.Thr781= NC_000001.11:64844123:G:A p.(Thr781=) NC_000001.11:64844123:G:A p.(Thr781=) NC_000001.11:64844123:G:A Identity +NM_012479.4:c.12C>G NP_036611.2:p.Arg4= NC_000007.14:76358796:G:C p.(Arg4=) NC_000007.14:76358796:G:C p.(Arg4=) NC_000007.14:76358796:G:C Identity +NM_001149.4:c.870C>T NP_001140.2:p.Ser290= NC_000010.11:60088218:G:A p.(Ser290=) NC_000010.11:60088218:G:A p.(Ser290=) NC_000010.11:60088218:G:A Identity +NM_032520.5:c.795G>A NP_115909.1:p.Gln265= NC_000016.10:1362877:G:A p.(Gln265=) NC_000016.10:1362877:G:A p.(Gln265=) NC_000016.10:1362877:G:A Identity +NM_001267727.2:c.759C>T NP_001254656.1:p.Pro253= NC_000017.11:68368601:C:T p.(Pro253=) NC_000017.11:68368601:C:T p.(Pro253=) NC_000017.11:68368601:C:T Identity +NM_000628.5:c.891C>T NP_000619.3:p.Val297= NC_000021.9:33296269:C:T p.(Val297=) NC_000021.9:33296269:C:T p.(Val297=) NC_000021.9:33296269:C:T Identity +NM_000059.4:c.471G>A NP_000050.3:p.Lys157= NC_000013.11:32326145:G:A p.(Lys157=) NC_000013.11:32326145:G:A p.(Lys157=) NC_000013.11:32326145:G:A Identity +NM_001377289.1:c.597A>G NP_001364218.1:p.Gly199= NC_000006.12:70266731:T:C p.(Gly199=) NC_000006.12:70266731:T:C p.(Gly199=) NC_000006.12:70266731:T:C Identity +NM_000720.4:c.546G>C NP_000711.1:p.Ala182= NC_000003.12:53650840:G:C p.(Ala182=) NC_000003.12:53650840:G:C p.(Ala182=) NC_000003.12:53650840:G:C Identity +NM_000373.4:c.30A>G NP_000364.1:p.Pro10= NC_000003.12:124730500:A:G p.(Pro10=) NC_000003.12:124730500:A:G p.(Pro10=) NC_000003.12:124730500:A:G Identity +NM_138694.4:c.8250A>G NP_619639.3:p.Gly2750= NC_000006.12:51830912:T:C p.(Gly2750=) NC_000006.12:51830912:T:C p.(Gly2750=) NC_000006.12:51830912:T:C Identity +NM_003482.4:c.14814C>T NP_003473.3:p.Thr4938= NC_000012.12:49027151:G:A p.(Thr4938=) NC_000012.12:49027151:G:A p.(Thr4938=) NC_000012.12:49027151:G:A Identity +NM_001134670.2:c.9T>C NP_001128142.1:p.Gly3= NC_000010.11:97584711:T:C p.(Gly3=) NC_000010.11:97584711:T:C p.(Gly3=) NC_000010.11:97584711:T:C Identity +NM_001376.5:c.8746C>T NP_001367.2:p.Leu2916= NC_000014.9:102026681:C:T p.(Leu2916=) NC_000014.9:102026681:C:T p.(Leu2916=) NC_000014.9:102026681:C:T Identity +NM_001317163.2:c.2661C>T NP_001304092.1:p.Ser887= NC_000009.12:120997693:G:A p.(Ser887=) NC_000009.12:120997693:G:A p.(Ser887=) NC_000009.12:120997693:G:A Identity +NM_016070.4:c.285C>T NP_057154.2:p.Thr95= NC_000017.11:57841190:G:A p.(Thr95=) NC_000017.11:57841190:G:A p.(Thr95=) NC_000017.11:57841190:G:A Identity +NM_001348740.2:c.2724G>A NP_001335669.1:p.Arg908= NC_000002.12:8776874:C:T p.(Arg908=) NC_000002.12:8776874:C:T p.(Arg908=) NC_000002.12:8776874:C:T Identity +NM_001163435.3:c.1965A>T NP_001156907.2:p.Pro655= NC_000004.12:106193702:T:A p.(Pro655=) NC_000004.12:106193702:T:A p.(Pro655=) NC_000004.12:106193702:T:A Identity +NM_001271282.3:c.5658A>G NP_001258211.1:p.Gly1886= NC_000014.9:95090608:T:C p.(Gly1886=) NC_000014.9:95090608:T:C p.(Gly1886=) NC_000014.9:95090608:T:C Identity +NM_031935.3:c.1158T>C NP_114141.2:p.Tyr386= NC_000001.11:185923525:T:C p.(Tyr386=) NC_000001.11:185923525:T:C p.(Tyr386=) NC_000001.11:185923525:T:C Identity +NM_015141.4:c.270G>A NP_055956.1:p.Leu90= NC_000003.12:32138630:G:A p.(Leu90=) NC_000003.12:32138630:G:A p.(Leu90=) NC_000003.12:32138630:G:A Identity +NM_001190274.2:c.1368T>C NP_001177203.1:p.Asp456= NC_000002.12:47832378:A:G p.(Asp456=) NC_000002.12:47832378:A:G p.(Asp456=) NC_000002.12:47832378:A:G Identity +NM_001145847.2:c.1020T>C NP_001139319.1:p.Leu340= NC_000004.12:16016195:A:G p.(Leu340=) NC_000004.12:16016195:A:G p.(Leu340=) NC_000004.12:16016195:A:G Identity +NM_001318360.2:c.2580T>C NP_001305289.1:p.Ala860= NC_000009.12:108893021:A:G p.(Ala860=) NC_000009.12:108893021:A:G p.(Ala860=) NC_000009.12:108893021:A:G Identity +NM_001367624.2:c.3720A>G NP_001354553.1:p.Glu1240= NC_000016.10:88431189:A:G p.(Glu1240=) NC_000016.10:88431189:A:G p.(Glu1240=) NC_000016.10:88431189:A:G Identity +NM_001291411.2:c.1437G>A NP_001278340.2:p.Leu479= NC_000021.9:33550667:G:A p.(Leu479=) NC_000021.9:33550667:G:A p.(Leu479=) NC_000021.9:33550667:G:A Identity +NM_001042494.2:c.432C>T NP_001035959.1:p.Ile144= NC_000015.10:34257722:G:A p.(Ile144=) NC_000015.10:34257722:G:A p.(Ile144=) NC_000015.10:34257722:G:A Identity +NM_001197104.2:c.8145A>C NP_001184033.1:p.Pro2715= NC_000011.10:118504036:A:C p.(Pro2715=) NC_000011.10:118504036:A:C p.(Pro2715=) NC_000011.10:118504036:A:C Identity +NM_001039590.3:c.375A>G NP_001034679.2:p.Thr125= NC_000023.11:41134776:A:G p.(Thr125=) NC_000023.11:41134776:A:G p.(Thr125=) NC_000023.11:41134776:A:G Identity +NM_001363711.2:c.3276C>T NP_001350640.1:p.Phe1092= NC_000015.10:45099800:G:A p.(Phe1092=) NC_000015.10:45099800:G:A p.(Phe1092=) NC_000015.10:45099800:G:A Identity +NM_001318245.2:c.4026T>A NP_001305174.1:p.Val1342= NC_000022.11:25874356:T:A p.(Val1342=) NC_000022.11:25874356:T:A p.(Val1342=) NC_000022.11:25874356:T:A Identity +NM_001143839.4:c.2044T>C NP_001137311.1:p.Leu682= NC_000011.10:72580953:A:G p.(Leu682=) NC_000011.10:72580953:A:G p.(Leu682=) NC_000011.10:72580953:A:G Identity +NM_001376.5:c.13209G>A NP_001367.2:p.Glu4403= NC_000014.9:102048018:G:A p.(Glu4403=) NC_000014.9:102048018:G:A p.(Glu4403=) NC_000014.9:102048018:G:A Identity +NM_001385640.1:c.1350C>T NP_001372569.1:p.Ser450= NC_000001.11:941294:C:T p.(Ser450=) NC_000001.11:941294:C:T p.(Ser450=) NC_000001.11:941294:C:T Identity +NM_001160130.2:c.681C>G NP_001153602.1:p.Ala227= NC_000006.12:73077385:C:G p.(Ala227=) NC_000006.12:73077385:C:G p.(Ala227=) NC_000006.12:73077385:C:G Identity +NM_017684.5:c.10998A>C NP_060154.3:p.Arg3666= NC_000015.10:61854903:T:G p.(Arg3666=) NC_000015.10:61854903:T:G p.(Arg3666=) NC_000015.10:61854903:T:G Identity +NM_001190709.2:c.4050T>C NP_001177638.1:p.Pro1350= NC_000001.11:102898746:A:G p.(Pro1350=) NC_000001.11:102898746:A:G p.(Pro1350=) NC_000001.11:102898746:A:G Identity +NM_001407571.1:c.1995A>G NP_001394500.1:p.Glu665= NC_000017.11:43093322:T:C p.(Glu665=) NC_000017.11:43093322:T:C p.(Glu665=) NC_000017.11:43093322:T:C Identity +NM_000109.4:c.10227A>G NP_000100.3:p.Pro3409= NC_000023.11:31177942:T:C p.(Pro3409=) NC_000023.11:31177942:T:C p.(Pro3409=) NC_000023.11:31177942:T:C Identity +NM_001081676.2:c.4068T>C NP_001075145.1:p.Ala1356= NC_000002.12:165097275:A:G p.(Ala1356=) NC_000002.12:165097275:A:G p.(Ala1356=) NC_000002.12:165097275:A:G Identity +NM_001195728.3:c.1170T>C NP_001182657.1:p.Asp390= NC_000011.10:35286845:A:G p.(Asp390=) NC_000011.10:35286845:A:G p.(Asp390=) NC_000011.10:35286845:A:G Identity +NM_001068.3:c.660C>G NP_001059.2:p.Ala220= NC_000003.12:25636112:G:C p.(Ala220=) NC_000003.12:25636112:G:C p.(Ala220=) NC_000003.12:25636112:G:C Identity +NM_001271684.2:c.267T>A NP_001258613.1:p.Ile89= NC_000001.11:99999339:T:A p.(Ile89=) NC_000001.11:99999339:T:A p.(Ile89=) NC_000001.11:99999339:T:A Identity +NM_000109.4:c.2352G>A NP_000100.3:p.Val784= NC_000023.11:32501758:C:T p.(Val784=) NC_000023.11:32501758:C:T p.(Val784=) NC_000023.11:32501758:C:T Identity +NM_001127244.2:c.982C>T NP_001120716.1:p.Leu328= NC_000009.12:128908145:C:T p.(Leu328=) NC_000009.12:128908145:C:T p.(Leu328=) NC_000009.12:128908145:C:T Identity +NM_000541.5:c.1185G>A NP_000532.2:p.Glu395= NC_000002.12:233346878:G:A p.(Glu395=) NC_000002.12:233346878:G:A p.(Glu395=) NC_000002.12:233346878:G:A Identity +NM_001025616.3:c.277C>A NP_001020787.2:p.Arg93= NC_000004.12:85923655:C:A p.(Arg93=) NC_000004.12:85923655:C:A p.(Arg93=) NC_000004.12:85923655:C:A Identity +NM_024652.6:c.1512C>G NP_078928.3:p.Leu504= NC_000015.10:101014407:C:G p.(Leu504=) NC_000015.10:101014407:C:G p.(Leu504=) NC_000015.10:101014407:C:G Identity +NM_001145036.2:c.1392G>A NP_001138508.1:p.Arg464= NC_000001.11:230686945:G:A p.(Arg464=) NC_000001.11:230686945:G:A p.(Arg464=) NC_000001.11:230686945:G:A Identity +NM_001285829.2:c.321G>A NP_001272758.1:p.Thr107= NC_000019.10:33301736:C:T p.(Thr107=) NC_000019.10:33301736:C:T p.(Thr107=) NC_000019.10:33301736:C:T Identity +NM_175875.5:c.111G>A NP_787071.3:p.Gln37= NC_000019.10:45768733:C:T p.(Gln37=) NC_000019.10:45768733:C:T p.(Gln37=) NC_000019.10:45768733:C:T Identity +NM_001174089.2:c.2400C>T NP_001167560.1:p.Pro800= NC_000020.11:3228416:G:A p.(Pro800=) NC_000020.11:3228416:G:A p.(Pro800=) NC_000020.11:3228416:G:A Identity +NM_001077494.3:c.357C>A NP_001070962.1:p.Ile119= NC_000010.11:102397016:C:A p.(Ile119=) NC_000010.11:102397016:C:A p.(Ile119=) NC_000010.11:102397016:C:A Identity +NM_002618.4:c.33C>G NP_002609.1:p.Pro11= NC_000002.12:61017791:C:G p.(Pro11=) NC_000002.12:61017791:C:G p.(Pro11=) NC_000002.12:61017791:C:G Identity +NM_001081955.3:c.537C>T NP_001075424.1:p.Ala179= NC_000017.11:65168235:C:T p.(Ala179=) NC_000017.11:65168235:C:T p.(Ala179=) NC_000017.11:65168235:C:T Identity +NM_000721.4:c.2016G>A NP_000712.2:p.Gly672= NC_000001.11:181721816:G:A p.(Gly672=) NC_000001.11:181721816:G:A p.(Gly672=) NC_000001.11:181721816:G:A Identity +NM_030665.4:c.5205G>A NP_109590.3:p.Pro1735= NC_000017.11:17798152:G:A p.(Pro1735=) NC_000017.11:17798152:G:A p.(Pro1735=) NC_000017.11:17798152:G:A Identity +NM_004423.4:c.1623G>C NP_004414.3:p.Pro541= NC_000003.12:184170129:G:C p.(Pro541=) NC_000003.12:184170129:G:C p.(Pro541=) NC_000003.12:184170129:G:C Identity +NM_001304438.2:c.1854G>A NP_001291367.1:p.Pro618= NC_000017.11:34634963:G:A p.(Pro618=) NC_000017.11:34634963:G:A p.(Pro618=) NC_000017.11:34634963:G:A Identity +NM_178862.3:c.1725T>C NP_849193.1:p.Asp575= NC_000003.12:31623858:T:C p.(Asp575=) NC_000003.12:31623858:T:C p.(Asp575=) NC_000003.12:31623858:T:C Identity +NM_001379500.1:c.1455T>C NP_001366429.1:p.Gly485= NC_000021.9:45480701:T:C p.(Gly485=) NC_000021.9:45480701:T:C p.(Gly485=) NC_000021.9:45480701:T:C Identity +NM_001018064.3:c.1908C>T NP_001018074.1:p.Ala636= NC_000009.12:84955300:C:T p.(Ala636=) NC_000009.12:84955300:C:T p.(Ala636=) NC_000009.12:84955300:C:T Identity +NM_000260.4:c.2386C>A NP_000251.3:p.Arg796= NC_000011.10:77179752:C:A p.(Arg796=) NC_000011.10:77179752:C:A p.(Arg796=) NC_000011.10:77179752:C:A Identity +NM_001369614.1:c.126C>T NP_001356543.1:p.Cys42= NC_000017.11:38739668:G:A p.(Cys42=) NC_000017.11:38739668:G:A p.(Cys42=) NC_000017.11:38739668:G:A Identity +NM_014254.3:c.627G>A NP_055069.1:p.Glu209= NC_000012.12:63802288:G:A p.(Glu209=) NC_000012.12:63802288:G:A p.(Glu209=) NC_000012.12:63802288:G:A Identity +NM_001003786.3:c.813G>A NP_001003786.1:p.Glu271= NC_000017.11:63704516:C:T p.(Glu271=) NC_000017.11:63704516:C:T p.(Glu271=) NC_000017.11:63704516:C:T Identity +NM_007129.5:c.297G>A NP_009060.2:p.Gly99= NC_000013.11:99982360:G:A p.(Gly99=) NC_000013.11:99982360:G:A p.(Gly99=) NC_000013.11:99982360:G:A Identity +NM_001282424.3:c.996G>A NP_001269353.2:p.Gln332= NC_000012.12:8852214:G:A p.(Gln332=) NC_000012.12:8852214:G:A p.(Gln332=) NC_000012.12:8852214:G:A Identity +NM_001135659.3:c.1710C>T NP_001129131.1:p.Ala570= NC_000002.12:50552755:G:A p.(Ala570=) NC_000002.12:50552755:G:A p.(Ala570=) NC_000002.12:50552755:G:A Identity +NM_144643.4:c.304T>C NP_653244.2:p.Leu102= NC_000004.12:129003862:A:G p.(Leu102=) NC_000004.12:129003862:A:G p.(Leu102=) NC_000004.12:129003862:A:G Identity +NM_001012509.4:c.798C>T NP_001012527.2:p.Tyr266= NC_000005.10:33963780:G:A p.(Tyr266=) NC_000005.10:33963780:G:A p.(Tyr266=) NC_000005.10:33963780:G:A Identity +NM_022835.3:c.3913C>A NP_073746.2:p.Arg1305= NC_000019.10:39425045:C:A p.(Arg1305=) NC_000019.10:39425045:C:A p.(Arg1305=) NC_000019.10:39425045:C:A Identity +NM_031935.3:c.10503G>A NP_114141.2:p.Ser3501= NC_000001.11:186095450:G:A p.(Ser3501=) NC_000001.11:186095450:G:A p.(Ser3501=) NC_000001.11:186095450:G:A Identity +NM_001039885.3:c.955C>T NP_001034974.1:p.Leu319= NC_000019.10:46756404:C:T p.(Leu319=) NC_000019.10:46756404:C:T p.(Leu319=) NC_000019.10:46756404:C:T Identity +NM_001258206.2:c.45G>A NP_001245135.1:p.Arg15= NC_000019.10:6772851:G:A p.(Arg15=) NC_000019.10:6772851:G:A p.(Arg15=) NC_000019.10:6772851:G:A Identity +NM_005993.5:c.3447C>T NP_005984.3:p.Asp1149= NC_000017.11:82939443:C:T p.(Asp1149=) NC_000017.11:82939443:C:T p.(Asp1149=) NC_000017.11:82939443:C:T Identity +NM_000430.4:c.501C>T NP_000421.1:p.Ser167= NC_000017.11:2670263:C:T p.(Ser167=) NC_000017.11:2670263:C:T p.(Ser167=) NC_000017.11:2670263:C:T Identity +NM_021076.4:c.1626C>T NP_066554.2:p.Ala542= NC_000022.11:29489265:C:T p.(Ala542=) NC_000022.11:29489265:C:T p.(Ala542=) NC_000022.11:29489265:C:T Identity +NM_001271427.2:c.2310C>T NP_001258356.1:p.His770= NC_000001.11:19223458:G:A p.(His770=) NC_000001.11:19223458:G:A p.(His770=) NC_000001.11:19223458:G:A Identity +NM_001849.4:c.93C>T NP_001840.3:p.Thr31= NC_000021.9:46111568:C:T p.(Thr31=) NC_000021.9:46111568:C:T p.(Thr31=) NC_000021.9:46111568:C:T Identity +NM_001256269.2:c.771C>G NP_001243198.1:p.Leu257= NC_000016.10:29799478:C:G p.(Leu257=) NC_000016.10:29799478:C:G p.(Leu257=) NC_000016.10:29799478:C:G Identity +NM_002335.4:c.804G>C NP_002326.2:p.Gly268= NC_000011.10:68363863:G:C p.(Gly268=) NC_000011.10:68363863:G:C p.(Gly268=) NC_000011.10:68363863:G:C Identity +NM_001845.6:c.4560G>A NP_001836.3:p.Ser1520= NC_000013.11:110161271:C:T p.(Ser1520=) NC_000013.11:110161271:C:T p.(Ser1520=) NC_000013.11:110161271:C:T Identity +NM_000489.6:c.5772C>T NP_000480.3:p.Ser1924= NC_000023.11:77599745:G:A p.(Ser1924=) NC_000023.11:77599745:G:A p.(Ser1924=) NC_000023.11:77599745:G:A Identity +NM_001114331.3:c.138C>A NP_001107803.1:p.Arg46= NC_000016.10:1474836:G:T p.(Arg46=) NC_000016.10:1474836:G:T p.(Arg46=) NC_000016.10:1474836:G:T Identity +NM_001243564.2:c.6A>G NP_001230493.1:p.Ser2= NC_000001.11:26432950:A:G p.(Ser2=) NC_000001.11:26432950:A:G p.(Ser2=) NC_000001.11:26432950:A:G Identity +NM_020745.4:c.1644C>A NP_065796.2:p.Ser548= NC_000006.12:44304752:G:T p.(Ser548=) NC_000006.12:44304752:G:T p.(Ser548=) NC_000006.12:44304752:G:T Identity +NM_001379500.1:c.1257C>T NP_001366429.1:p.Thr419= NC_000021.9:45479909:C:T p.(Thr419=) NC_000021.9:45479909:C:T p.(Thr419=) NC_000021.9:45479909:C:T Identity +NM_001376.5:c.4605T>C NP_001367.2:p.Asp1535= NC_000014.9:102002598:T:C p.(Asp1535=) NC_000014.9:102002598:T:C p.(Asp1535=) NC_000014.9:102002598:T:C Identity +NM_001164665.2:c.1200C>T NP_001158137.1:p.Pro400= NC_000007.14:138918425:G:A p.(Pro400=) NC_000007.14:138918425:G:A p.(Pro400=) NC_000007.14:138918425:G:A Identity +NM_138348.6:c.234G>A NP_612357.4:p.Pro78= NC_000005.10:14678684:G:A p.(Pro78=) NC_000005.10:14678684:G:A p.(Pro78=) NC_000005.10:14678684:G:A Identity +NM_001128204.2:c.327C>T NP_001121676.1:p.Asn109= NC_000008.11:69576123:C:T p.(Asn109=) NC_000008.11:69576123:C:T p.(Asn109=) NC_000008.11:69576123:C:T Identity +NM_000717.5:c.27C>G NP_000708.1:p.Ala9= NC_000017.11:60150060:C:G p.(Ala9=) NC_000017.11:60150060:C:G p.(Ala9=) NC_000017.11:60150060:C:G Identity +NM_030662.4:c.66A>G NP_109587.1:p.Pro22= NC_000019.10:4123809:T:C p.(Pro22=) NC_000019.10:4123809:T:C p.(Pro22=) NC_000019.10:4123809:T:C Identity +NM_001384158.1:c.510C>T NP_001371087.1:p.Asp170= NC_000014.9:91895064:G:A p.(Asp170=) NC_000014.9:91895064:G:A p.(Asp170=) NC_000014.9:91895064:G:A Identity +NM_001170794.2:c.729T>C NP_001164265.1:p.Tyr243= NC_000006.12:89951376:A:G p.(Tyr243=) NC_000006.12:89951376:A:G p.(Tyr243=) NC_000006.12:89951376:A:G Identity +NM_004369.4:c.1152C>A NP_004360.2:p.Ala384= NC_000002.12:237387741:G:T p.(Ala384=) NC_000002.12:237387741:G:T p.(Ala384=) NC_000002.12:237387741:G:T Identity +NM_020708.5:c.756C>T NP_065759.1:p.Val252= NC_000020.11:46040515:C:T p.(Val252=) NC_000020.11:46040515:C:T p.(Val252=) NC_000020.11:46040515:C:T Identity +NM_001201459.2:c.1083T>C NP_001188388.1:p.Tyr361= NC_000002.12:27377901:A:G p.(Tyr361=) NC_000002.12:27377901:A:G p.(Tyr361=) NC_000002.12:27377901:A:G Identity +NM_001385125.1:c.732G>A NP_001372054.1:p.Val244= NC_000007.14:128773834:C:T p.(Val244=) NC_000007.14:128773834:C:T p.(Val244=) NC_000007.14:128773834:C:T Identity +NM_006939.4:c.3042T>A NP_008870.2:p.Ile1014= NC_000014.9:50134155:A:T p.(Ile1014=) NC_000014.9:50134155:A:T p.(Ile1014=) NC_000014.9:50134155:A:T Identity +NM_005515.4:c.375CGC[5] NP_005506.3:p.Ala131_Ala134del NC_000007.14:157009949:GCGGCGGCGGCGGCGGCGGCGGCGGCGGC:GCGGCGGCGGCGGCGGC p.(Ala131_Ala134del) NC_000007.14:157009975:G:GCGGCGGCGGCGGCG ERR:Parse ERR:Parse Identity +NM_005996.4:c.1908C>T NP_005987.3:p.Leu636= NC_000012.12:114672104:G:A p.(Leu636=) NC_000012.12:114672104:G:A p.(Leu636=) NC_000012.12:114672104:G:A Identity +NM_000823.4:c.1014T>C NP_000814.2:p.Phe338= NC_000007.14:30976467:T:C p.(Phe338=) NC_000007.14:30976467:T:C p.(Phe338=) NC_000007.14:30976467:T:C Identity +NM_015164.4:c.1173G>A NP_055979.2:p.Pro391= NC_000001.11:15727244:G:A p.(Pro391=) NC_000001.11:15727244:G:A p.(Pro391=) NC_000001.11:15727244:G:A Identity +NM_000165.5:c.150T>A NP_000156.1:p.Ser50= NC_000006.12:121446996:T:A p.(Ser50=) NC_000006.12:121446996:T:A p.(Ser50=) NC_000006.12:121446996:T:A Identity +NM_021620.4:c.1519C>T NP_067633.2:p.Leu507= NC_000006.12:99614153:C:T p.(Leu507=) NC_000006.12:99614153:C:T p.(Leu507=) NC_000006.12:99614153:C:T Identity +NM_001130066.2:c.3675G>A NP_001123538.1:p.Leu1225= NC_000006.12:33446714:G:A p.(Leu1225=) NC_000006.12:33446714:G:A p.(Leu1225=) NC_000006.12:33446714:G:A Identity +NM_004369.4:c.141T>C NP_004360.2:p.Ser47= NC_000002.12:237395154:A:G p.(Ser47=) NC_000002.12:237395154:A:G p.(Ser47=) NC_000002.12:237395154:A:G Identity +NM_001042383.2:c.1353T>G NP_001035842.1:p.Leu451= NC_000003.12:134561399:T:G p.(Leu451=) NC_000003.12:134561399:T:G p.(Leu451=) NC_000003.12:134561399:T:G Identity +NM_004311.4:c.72C>T NP_004302.1:p.Gly24= NC_000010.11:102705420:G:A p.(Gly24=) NC_000010.11:102705420:G:A p.(Gly24=) NC_000010.11:102705420:G:A Identity +NM_000489.6:c.2877T>C NP_000480.3:p.Asp959= NC_000023.11:77682378:A:G p.(Asp959=) NC_000023.11:77682378:A:G p.(Asp959=) NC_000023.11:77682378:A:G Identity +NM_000405.5:c.24C>T NP_000396.2:p.Pro8= NC_000005.10:151253239:C:T p.(Pro8=) NC_000005.10:151253239:C:T p.(Pro8=) NC_000005.10:151253239:C:T Identity +NM_000719.7:c.5739C>T NP_000710.5:p.Asp1913= NC_000012.12:2686223:C:T p.(Asp1913=) NC_000012.12:2686223:C:T p.(Asp1913=) NC_000012.12:2686223:C:T Identity +NM_207391.3:c.118C>T NP_997274.2:p.Leu40= NC_000019.10:32676380:C:T p.(Leu40=) NC_000019.10:32676380:C:T p.(Leu40=) NC_000019.10:32676380:C:T Identity +NM_001278463.2:c.1323G>A NP_001265392.1:p.Arg441= NC_000012.12:32731477:G:A p.(Arg441=) NC_000012.12:32731477:G:A p.(Arg441=) NC_000012.12:32731477:G:A Identity +NM_001160130.2:c.68CGG[6] NP_001153602.1:p.Ala27dup NC_000006.12:72622255:GCGGCGGCGGCGGCGG:GCGGCGGCGGCGGCGGCGG p.(Ala27dup) NC_000006.12:72622256:C:CGGCGGCGGCGGCGGCGG ERR:Parse ERR:Parse Identity +NM_005458.8:c.606G>C NP_005449.5:p.Thr202= NC_000009.12:98541896:C:G p.(Thr202=) NC_000009.12:98541896:C:G p.(Thr202=) NC_000009.12:98541896:C:G Identity +NM_001317163.2:c.1158C>T NP_001304092.1:p.Asp386= NC_000009.12:121021670:G:A p.(Asp386=) NC_000009.12:121021670:G:A p.(Asp386=) NC_000009.12:121021670:G:A Identity +NM_005112.5:c.1377C>G NP_005103.2:p.Val459= NC_000004.12:10075401:G:C p.(Val459=) NC_000004.12:10075401:G:C p.(Val459=) NC_000004.12:10075401:G:C Identity +NM_000350.3:c.4716G>C NP_000341.2:p.Thr1572= NC_000001.11:94021902:C:G p.(Thr1572=) NC_000001.11:94021902:C:G p.(Thr1572=) NC_000001.11:94021902:C:G Identity +NM_001013838.3:c.180G>A NP_001013860.1:p.Pro60= NC_000016.10:67645770:G:A p.(Pro60=) NC_000016.10:67645770:G:A p.(Pro60=) NC_000016.10:67645770:G:A Identity +NM_031935.3:c.13542A>G NP_114141.2:p.Leu4514= NC_000001.11:186136896:A:G p.(Leu4514=) NC_000001.11:186136896:A:G p.(Leu4514=) NC_000001.11:186136896:A:G Identity +NM_006944.3:c.69C>T NP_008875.1:p.Asn23= NC_000002.12:234050854:C:T p.(Asn23=) NC_000002.12:234050854:C:T p.(Asn23=) NC_000002.12:234050854:C:T Identity +NM_001348353.1:c.420G>A NP_001335282.1:p.Lys140= NC_000008.11:30612427:C:T p.(Lys140=) NC_000008.11:30612427:C:T p.(Lys140=) NC_000008.11:30612427:C:T Identity +NM_001190274.2:c.149AGC[4] NP_001177203.1:p.Gln54_Gln56del NC_000002.12:47905551:GCTGCTGCTGCTGCTGCTGCTGC:GCTGCTGCTGCTGC p.(Gln54_Gln56del) NC_000002.12:47905571:T:GCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_001317090.2:c.1077C>T NP_001304019.1:p.Cys359= NC_000011.10:64299620:C:T p.(Cys359=) NC_000011.10:64299620:C:T p.(Cys359=) NC_000011.10:64299620:C:T Identity +NM_001376256.1:c.226T>C NP_001363185.1:p.Leu76= NC_000016.10:21277528:A:G p.(Leu76=) NC_000016.10:21277528:A:G p.(Leu76=) NC_000016.10:21277528:A:G Identity +NM_003924.4:c.147C>A NP_003915.2:p.Thr49= NC_000004.12:41748463:G:T p.(Thr49=) NC_000004.12:41748463:G:T p.(Thr49=) NC_000004.12:41748463:G:T Identity +NM_001379500.1:c.2772G>A NP_001366429.1:p.Arg924= NC_000021.9:45504459:G:A p.(Arg924=) NC_000021.9:45504459:G:A p.(Arg924=) NC_000021.9:45504459:G:A Identity +NM_001042771.3:c.99G>A NP_001036236.1:p.Lys33= NC_000001.11:32274427:G:A p.(Lys33=) NC_000001.11:32274427:G:A p.(Lys33=) NC_000001.11:32274427:G:A Identity +NM_002641.4:c.48A>G NP_002632.1:p.Thr16= NC_000023.11:15331882:T:C p.(Thr16=) NC_000023.11:15331882:T:C p.(Thr16=) NC_000023.11:15331882:T:C Identity +NM_183075.3:c.1122A>T NP_898898.1:p.Val374= NC_000004.12:107945600:A:T p.(Val374=) NC_000004.12:107945600:A:T p.(Val374=) NC_000004.12:107945600:A:T Identity +NM_005914.4:c.396C>T NP_005905.2:p.Asp132= NC_000008.11:47962212:C:T p.(Asp132=) NC_000008.11:47962212:C:T p.(Asp132=) NC_000008.11:47962212:C:T Identity +NM_014484.5:c.1119C>T NP_055299.1:p.Ile373= NC_000020.11:50959960:C:T p.(Ile373=) NC_000020.11:50959960:C:T p.(Ile373=) NC_000020.11:50959960:C:T Identity +NM_017565.4:c.129G>A NP_060035.2:p.Gly43= NC_000017.11:68600537:C:T p.(Gly43=) NC_000017.11:68600537:C:T p.(Gly43=) NC_000017.11:68600537:C:T Identity +NM_020795.4:c.2148C>T NP_065846.1:p.Gly716= NC_000017.11:7417438:C:T p.(Gly716=) NC_000017.11:7417438:C:T p.(Gly716=) NC_000017.11:7417438:C:T Identity +NM_014334.4:c.30G>A NP_055149.3:p.Gly10= NC_000009.12:109167108:C:T p.(Gly10=) NC_000009.12:109167108:C:T p.(Gly10=) NC_000009.12:109167108:C:T Identity +NM_001316690.1:c.780C>T NP_001303619.1:p.Pro260= NC_000008.11:60742211:C:T p.(Pro260=) NC_000008.11:60742211:C:T p.(Pro260=) NC_000008.11:60742211:C:T Identity +NM_001170794.2:c.1383G>A NP_001164265.1:p.Pro461= NC_000006.12:89950722:C:T p.(Pro461=) NC_000006.12:89950722:C:T p.(Pro461=) NC_000006.12:89950722:C:T Identity +NM_001012509.4:c.435C>A NP_001012527.2:p.Thr145= NC_000005.10:33982362:G:T p.(Thr145=) NC_000005.10:33982362:G:T p.(Thr145=) NC_000005.10:33982362:G:T Identity +NM_138694.4:c.11379A>G NP_619639.3:p.Ala3793= NC_000006.12:51648049:T:C p.(Ala3793=) NC_000006.12:51648049:T:C p.(Ala3793=) NC_000006.12:51648049:T:C Identity +NM_001849.4:c.1119G>A NP_001840.3:p.Gly373= NC_000021.9:46118615:G:A p.(Gly373=) NC_000021.9:46118615:G:A p.(Gly373=) NC_000021.9:46118615:G:A Identity +NM_001114101.3:c.153C>T NP_001107573.1:p.Asp51= NC_000001.11:22644175:C:T p.(Asp51=) NC_000001.11:22644175:C:T p.(Asp51=) NC_000001.11:22644175:C:T Identity +NM_002838.5:c.2958A>G NP_002829.3:p.Pro986= NC_000001.11:198749434:A:G p.(Pro986=) NC_000001.11:198749434:A:G p.(Pro986=) NC_000001.11:198749434:A:G Identity +NM_001388492.1:c.3897C>G NP_001375421.1:p.Ser1299= NC_000004.12:3172351:C:G p.(Ser1299=) NC_000004.12:3172351:C:G p.(Ser1299=) NC_000004.12:3172351:C:G Identity +NM_001040633.2:c.648T>A NP_001035723.1:p.Val216= NC_000007.14:151595428:A:T p.(Val216=) NC_000007.14:151595428:A:T p.(Val216=) NC_000007.14:151595428:A:T Identity +NM_001033604.2:c.531C>T NP_001028776.1:p.Gly177= NC_000007.14:33257323:C:T p.(Gly177=) NC_000007.14:33257323:C:T p.(Gly177=) NC_000007.14:33257323:C:T Identity +NM_001178075.2:c.528A>G NP_001171546.1:p.Ala176= NC_000007.14:97859294:T:C p.(Ala176=) NC_000007.14:97859294:T:C p.(Ala176=) NC_000007.14:97859294:T:C Identity +NM_002715.4:c.78C>G NP_002706.1:p.Ser26= NC_000005.10:134225783:G:C p.(Ser26=) NC_000005.10:134225783:G:C p.(Ser26=) NC_000005.10:134225783:G:C Identity +NM_024652.6:c.5439C>T NP_078928.3:p.Ile1813= NC_000015.10:101065875:C:T p.(Ile1813=) NC_000015.10:101065875:C:T p.(Ile1813=) NC_000015.10:101065875:C:T Identity +NM_001378418.1:c.375C>T NP_001365347.1:p.Ser125= NC_000022.11:42214930:G:A p.(Ser125=) NC_000022.11:42214930:G:A p.(Ser125=) NC_000022.11:42214930:G:A Identity +NM_001039675.2:c.696C>T NP_001034764.1:p.Gly232= NC_000015.10:90942489:C:T p.(Gly232=) NC_000015.10:90942489:C:T p.(Gly232=) NC_000015.10:90942489:C:T Identity +NM_001365819.1:c.4722G>T NP_001352748.1:p.Ala1574= NC_000022.11:50454828:C:A p.(Ala1574=) NC_000022.11:50454828:C:A p.(Ala1574=) NC_000022.11:50454828:C:A Identity +NM_001121.4:c.633A>G NP_001112.2:p.Thr211= NC_000010.11:110118651:A:G p.(Thr211=) NC_000010.11:110118651:A:G p.(Thr211=) NC_000010.11:110118651:A:G Identity +NM_002677.5:c.222C>T NP_002668.1:p.Thr74= NC_000008.11:81444840:G:A p.(Thr74=) NC_000008.11:81444840:G:A p.(Thr74=) NC_000008.11:81444840:G:A Identity +NM_001363711.2:c.3255C>G NP_001350640.1:p.Gly1085= NC_000015.10:45099821:G:C p.(Gly1085=) NC_000015.10:45099821:G:C p.(Gly1085=) NC_000015.10:45099821:G:C Identity +NM_001195518.2:c.465C>A NP_001182447.1:p.Ser155= NC_000010.11:72551206:G:T p.(Ser155=) NC_000010.11:72551206:G:T p.(Ser155=) NC_000010.11:72551206:G:T Identity +NM_030662.4:c.852C>G NP_109587.1:p.Val284= NC_000019.10:4099267:G:C p.(Val284=) NC_000019.10:4099267:G:C p.(Val284=) NC_000019.10:4099267:G:C Identity +NM_017613.4:c.262C>A NP_060083.1:p.Arg88= NC_000021.9:33588379:G:T p.(Arg88=) NC_000021.9:33588379:G:T p.(Arg88=) NC_000021.9:33588379:G:T Identity +NM_001136139.4:c.54C>T NP_001129611.1:p.Asp18= NC_000019.10:1650194:G:A p.(Asp18=) NC_000019.10:1650194:G:A p.(Asp18=) NC_000019.10:1650194:G:A Identity +NM_005502.4:c.5362C>T NP_005493.2:p.Leu1788= NC_000009.12:104796072:G:A p.(Leu1788=) NC_000009.12:104796072:G:A p.(Leu1788=) NC_000009.12:104796072:G:A Identity +NM_004092.4:c.90T>C NP_004083.3:p.Gly30= NC_000010.11:133370755:A:G p.(Gly30=) NC_000010.11:133370755:A:G p.(Gly30=) NC_000010.11:133370755:A:G Identity +NM_001040134.2:c.690C>T NP_001035224.1:p.Thr230= NC_000019.10:746471:C:T p.(Thr230=) NC_000019.10:746471:C:T p.(Thr230=) NC_000019.10:746471:C:T Identity +NM_000423.3:c.417T>C NP_000414.2:p.Gly139= NC_000012.12:52651725:A:G p.(Gly139=) NC_000012.12:52651725:A:G p.(Gly139=) NC_000012.12:52651725:A:G Identity +NM_001195573.1:c.423G>A NP_001182502.1:p.Glu141= NC_000014.9:95131523:C:T p.(Glu141=) NC_000014.9:95131523:C:T p.(Glu141=) NC_000014.9:95131523:C:T Identity +NM_015180.6:c.7491G>A NP_055995.4:p.Ser2497= NC_000014.9:64049723:G:A p.(Ser2497=) NC_000014.9:64049723:G:A p.(Ser2497=) NC_000014.9:64049723:G:A Identity +NM_001291285.3:c.11943A>C NP_001278214.1:p.Gly3981= NC_000004.12:125468548:A:C p.(Gly3981=) NC_000004.12:125468548:A:C p.(Gly3981=) NC_000004.12:125468548:A:C Identity +NM_006939.4:c.3934C>A NP_008870.2:p.Arg1312= NC_000014.9:50118408:G:T p.(Arg1312=) NC_000014.9:50118408:G:T p.(Arg1312=) NC_000014.9:50118408:G:T Identity +NM_001105243.2:c.2052C>G NP_001098713.1:p.Ala684= NC_000023.11:100406545:G:C p.(Ala684=) NC_000023.11:100406545:G:C p.(Ala684=) NC_000023.11:100406545:G:C Identity +NM_001321541.2:c.570C>T NP_001308470.1:p.Thr190= NC_000001.11:224190063:C:T p.(Thr190=) NC_000001.11:224190063:C:T p.(Thr190=) NC_000001.11:224190063:C:T Identity +NM_000246.4:c.3376C>A NP_000237.2:p.Arg1126= NC_000016.10:10923285:C:A p.(Arg1126=) NC_000016.10:10923285:C:A p.(Arg1126=) NC_000016.10:10923285:C:A Identity +LRG_718t1:c.597C>G LRG_718p1:p.Gly199= NC_000014.9:56802031:G:C ERR:Data provider error: ValueError: Transcript LRG_718t1 not found ERR:Data provider error: ValueError: Transcript LRG_718t1 not found ERR:AlignmentMapper(tx_ac=LRG_718t1, alt_ac=LRG_718t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_718t1, alt_ac=LRG_718t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_718t1 not found +NM_001291411.2:c.2088G>A NP_001278340.2:p.Val696= NC_000021.9:33551318:G:A p.(Val696=) NC_000021.9:33551318:G:A p.(Val696=) NC_000021.9:33551318:G:A Identity +NM_033159.4:c.615T>C NP_149349.2:p.Pro205= NC_000003.12:50302341:A:G p.(Pro205=) NC_000003.12:50302341:A:G p.(Pro205=) NC_000003.12:50302341:A:G Identity +NM_145290.4:c.180G>A NP_660333.2:p.Glu60= NC_000004.12:22515604:C:T p.(Glu60=) NC_000004.12:22515604:C:T p.(Glu60=) NC_000004.12:22515604:C:T Identity +NM_000721.4:c.3060G>A NP_000712.2:p.Val1020= NC_000001.11:181733547:G:A p.(Val1020=) NC_000001.11:181733547:G:A p.(Val1020=) NC_000001.11:181733547:G:A Identity +NM_024928.5:c.987C>G NP_079204.2:p.Ala329= NC_000010.11:103882803:G:C p.(Ala329=) NC_000010.11:103882803:G:C p.(Ala329=) NC_000010.11:103882803:G:C Identity +NM_020702.5:c.327G>A NP_065753.2:p.Gln109= NC_000009.12:34372616:C:T p.(Gln109=) NC_000009.12:34372616:C:T p.(Gln109=) NC_000009.12:34372616:C:T Identity +NM_145059.3:c.381G>C NP_659496.2:p.Leu127= NC_000016.10:70466226:G:C p.(Leu127=) NC_000016.10:70466226:G:C p.(Leu127=) NC_000016.10:70466226:G:C Identity +NM_001113491.2:c.426G>A NP_001106963.1:p.Thr142= NC_000017.11:77402407:G:A p.(Thr142=) NC_000017.11:77402407:G:A p.(Thr142=) NC_000017.11:77402407:G:A Identity +NM_001042702.5:c.547C>A NP_001036167.1:p.Arg183= NC_000002.12:178456148:C:A p.(Arg183=) NC_000002.12:178456148:C:A p.(Arg183=) NC_000002.12:178456148:C:A Identity +NM_016204.4:c.1155C>T NP_057288.1:p.Pro385= NC_000010.11:47325648:C:T p.(Pro385=) NC_000010.11:47325648:C:T p.(Pro385=) NC_000010.11:47325648:C:T Identity +NM_001321309.2:c.4032G>A NP_001308238.1:p.Lys1344= NC_000003.12:123647282:C:T p.(Lys1344=) NC_000003.12:123647282:C:T p.(Lys1344=) NC_000003.12:123647282:C:T Identity +NM_006486.3:c.1776C>T NP_006477.3:p.Pro592= NC_000022.11:45574588:C:T p.(Pro592=) NC_000022.11:45574588:C:T p.(Pro592=) NC_000022.11:45574588:C:T Identity +NM_001318163.1:c.329_331del NP_001305092.1:p.Thr110_Glu111delinsLys NC_000007.14:105508181:CAG: p.(Thr110_Glu111delinsLys) NC_000007.14:105508181:CAG: p.(Thr110_Glu111delinsLys) NC_000007.14:105508181:CAG: Identity +NM_000335.5:c.5682A>G NP_000326.2:p.Thr1894= NC_000003.12:38550686:T:C p.(Thr1894=) NC_000003.12:38550686:T:C p.(Thr1894=) NC_000003.12:38550686:T:C Identity +NM_001363734.1:c.810T>C NP_001350663.1:p.His270= NC_000020.11:32432892:T:C p.(His270=) NC_000020.11:32432892:T:C p.(His270=) NC_000020.11:32432892:T:C Identity +NM_004444.5:c.2124C>T NP_004435.3:p.Asn708= NC_000007.14:100807574:G:A p.(Asn708=) NC_000007.14:100807574:G:A p.(Asn708=) NC_000007.14:100807574:G:A Identity +NM_001130442.3:c.213C>T NP_001123914.1:p.Tyr71= NC_000011.10:533842:G:A p.(Tyr71=) NC_000011.10:533842:G:A p.(Tyr71=) NC_000011.10:533842:G:A Identity +NM_001271723.2:c.1533C>T NP_001258652.1:p.Asn511= NC_000005.10:148417118:C:T p.(Asn511=) NC_000005.10:148417118:C:T p.(Asn511=) NC_000005.10:148417118:C:T Identity +NM_020884.7:c.5097G>A NP_065935.4:p.Leu1699= NC_000020.11:35000607:G:A p.(Leu1699=) NC_000020.11:35000607:G:A p.(Leu1699=) NC_000020.11:35000607:G:A Identity +NM_001013703.4:c.1212G>A NP_001013725.2:p.Arg404= NC_000015.10:39967537:G:A p.(Arg404=) NC_000015.10:39967537:G:A p.(Arg404=) NC_000015.10:39967537:G:A Identity +NM_000875.5:c.684T>C NP_000866.1:p.Asn228= NC_000015.10:98891367:T:C p.(Asn228=) NC_000015.10:98891367:T:C p.(Asn228=) NC_000015.10:98891367:T:C Identity +NM_001365819.1:c.3276C>T NP_001352748.1:p.Asp1092= NC_000022.11:50460281:G:A p.(Asp1092=) NC_000022.11:50460281:G:A p.(Asp1092=) NC_000022.11:50460281:G:A Identity +NM_001317163.2:c.3255A>G NP_001304092.1:p.Thr1085= NC_000009.12:120982807:T:C p.(Thr1085=) NC_000009.12:120982807:T:C p.(Thr1085=) NC_000009.12:120982807:T:C Identity +NM_013276.4:c.531C>T NP_037408.2:p.Thr177= NC_000017.11:3623454:G:A p.(Thr177=) NC_000017.11:3623454:G:A p.(Thr177=) NC_000017.11:3623454:G:A Identity +NM_001077397.1:c.87C>T NP_001070865.1:p.Ile29= NC_000001.11:234609407:G:A p.(Ile29=) NC_000001.11:234609407:G:A p.(Ile29=) NC_000001.11:234609407:G:A Identity +NM_001081676.2:c.5631C>T NP_001075145.1:p.Asn1877= NC_000002.12:165090374:G:A p.(Asn1877=) NC_000002.12:165090374:G:A p.(Asn1877=) NC_000002.12:165090374:G:A Identity +NM_014727.3:c.1392G>A NP_055542.1:p.Thr464= NC_000019.10:35720738:G:A p.(Thr464=) NC_000019.10:35720738:G:A p.(Thr464=) NC_000019.10:35720738:G:A Identity +NM_019066.5:c.1134G>A NP_061939.3:p.Thr378= NC_000015.10:23646608:C:T p.(Thr378=) NC_000015.10:23646608:C:T p.(Thr378=) NC_000015.10:23646608:C:T Identity +NM_001113491.2:c.942A>G NP_001106963.1:p.Leu314= NC_000017.11:77487451:A:G p.(Leu314=) NC_000017.11:77487451:A:G p.(Leu314=) NC_000017.11:77487451:A:G Identity +NM_014974.3:c.3142C>T NP_055789.1:p.Leu1048= NC_000010.11:348729:G:A p.(Leu1048=) NC_000010.11:348729:G:A p.(Leu1048=) NC_000010.11:348729:G:A Identity +NM_001351846.2:c.1881G>A NP_001338775.1:p.Gly627= NC_000016.10:1505447:G:A p.(Gly627=) NC_000016.10:1505447:G:A p.(Gly627=) NC_000016.10:1505447:G:A Identity +NM_001001331.4:c.1117A>C NP_001001331.1:p.Arg373= NC_000003.12:10378335:T:G p.(Arg373=) NC_000003.12:10378335:T:G p.(Arg373=) NC_000003.12:10378335:T:G Identity +NM_000701.8:c.2589G>A NP_000692.2:p.Leu863= NC_000001.11:116400876:G:A p.(Leu863=) NC_000001.11:116400876:G:A p.(Leu863=) NC_000001.11:116400876:G:A Identity +NM_001364837.1:c.771A>G NP_001351766.1:p.Ala257= NC_000014.9:64424846:A:G p.(Ala257=) NC_000014.9:64424846:A:G p.(Ala257=) NC_000014.9:64424846:A:G Identity +NM_000109.4:c.45A>G NP_000100.3:p.Lys15= NC_000023.11:33020162:T:C p.(Lys15=) NC_000023.11:33020162:T:C p.(Lys15=) NC_000023.11:33020162:T:C Identity +NM_013262.4:c.570T>C NP_037394.2:p.His190= NC_000006.12:16143124:T:C p.(His190=) NC_000006.12:16143124:T:C p.(His190=) NC_000006.12:16143124:T:C Identity +NM_002796.3:c.533_535dup NP_002787.2:p.Glu178_Ala179insGlu NC_000001.11:151400800:GAAG:GAAGAAG p.(Glu178dup) NC_000001.11:151400800:GAAG:GAAGAAG p.(Glu178dup) ERR:SPDI Analogous +NM_001365684.2:c.6858G>A NP_001352613.2:p.Val2286= NC_000005.10:177295098:G:A p.(Val2286=) NC_000005.10:177295098:G:A p.(Val2286=) NC_000005.10:177295098:G:A Identity +NM_005560.6:c.10905T>C NP_005551.3:p.Ala3635= NC_000020.11:62309758:A:G p.(Ala3635=) NC_000020.11:62309758:A:G p.(Ala3635=) NC_000020.11:62309758:A:G Identity +NM_001284351.3:c.2296C>T NP_001271280.1:p.Leu766= NC_000005.10:475060:G:A p.(Leu766=) NC_000005.10:475060:G:A p.(Leu766=) NC_000005.10:475060:G:A Identity +NM_001081676.2:c.684A>C NP_001075145.1:p.Ser228= NC_000002.12:165163627:T:G p.(Ser228=) NC_000002.12:165163627:T:G p.(Ser228=) NC_000002.12:165163627:T:G Identity +NM_001101802.3:c.1104C>T NP_001095272.1:p.Phe368= NC_000011.10:45950245:G:A p.(Phe368=) NC_000011.10:45950245:G:A p.(Phe368=) NC_000011.10:45950245:G:A Identity +NM_001127891.3:c.10C>T NP_001121363.1:p.Leu4= NC_000016.10:55482914:C:T p.(Leu4=) NC_000016.10:55482914:C:T p.(Leu4=) NC_000016.10:55482914:C:T Identity +NM_000425.5:c.390C>T NP_000416.1:p.Leu130= NC_000023.11:153872161:G:A p.(Leu130=) NC_000023.11:153872161:G:A p.(Leu130=) NC_000023.11:153872161:G:A Identity +NM_001349636.2:c.1923G>A NP_001336565.1:p.Lys641= NC_000008.11:85135835:G:A p.(Lys641=) NC_000008.11:85135835:G:A p.(Lys641=) NC_000008.11:85135835:G:A Identity +NM_001174098.2:c.381C>T NP_001167569.1:p.Asn127= NC_000010.11:71344288:C:T p.(Asn127=) NC_000010.11:71344288:C:T p.(Asn127=) NC_000010.11:71344288:C:T Identity +NM_080473.5:c.354C>G NP_536721.1:p.Gly118= NC_000020.11:62475167:G:C p.(Gly118=) NC_000020.11:62475167:G:C p.(Gly118=) NC_000020.11:62475167:G:C Identity +NM_001350748.2:c.3387T>C NP_001337677.1:p.Asn1129= NC_000013.11:101089935:A:G p.(Asn1129=) NC_000013.11:101089935:A:G p.(Asn1129=) NC_000013.11:101089935:A:G Identity +NM_003906.5:c.108T>A NP_003897.2:p.Pro36= NC_000021.9:46285178:A:T p.(Pro36=) NC_000021.9:46285178:A:T p.(Pro36=) NC_000021.9:46285178:A:T Identity +NM_015202.5:c.2826G>A NP_056017.4:p.Lys942= NC_000016.10:27749785:G:A p.(Lys942=) NC_000016.10:27749785:G:A p.(Lys942=) NC_000016.10:27749785:G:A Identity +NM_001410831.1:c.183A>G NP_001397760.1:p.Leu61= NC_000020.11:25425317:A:G p.(Leu61=) NC_000020.11:25425317:A:G p.(Leu61=) NC_000020.11:25425317:A:G Identity +NM_001015051.4:c.174_191dup NP_001015051.3:p.Gln71_Glu72insGlnGlnGlnGlnGlnGln NC_000006.12:45422693:CAGCAGCAGCAGCAACAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCA p.(Gln66_Gln71dup) NC_000006.12:45422693:CAGCAGCAGCAGCAACAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCA p.(Gln66_Gln71dup) ERR:SPDI Analogous +NM_001301063.2:c.78C>T NP_001287992.1:p.Phe26= NC_000005.10:150521331:C:T p.(Phe26=) NC_000005.10:150521331:C:T p.(Phe26=) NC_000005.10:150521331:C:T Identity +NM_001256119.2:c.498G>A NP_001243048.1:p.Glu166= NC_000023.11:153930151:C:T p.(Glu166=) NC_000023.11:153930151:C:T p.(Glu166=) NC_000023.11:153930151:C:T Identity +NM_000720.4:c.2121C>A NP_000711.1:p.Thr707= NC_000003.12:53723959:C:A p.(Thr707=) NC_000003.12:53723959:C:A p.(Thr707=) NC_000003.12:53723959:C:A Identity +NM_001301128.2:c.3345C>G NP_001288057.1:p.Thr1115= NC_000007.14:78127232:G:C p.(Thr1115=) NC_000007.14:78127232:G:C p.(Thr1115=) NC_000007.14:78127232:G:C Identity +NM_001029882.3:c.804G>A NP_001025053.1:p.Ser268= NC_000001.11:27551311:C:T p.(Ser268=) NC_000001.11:27551311:C:T p.(Ser268=) NC_000001.11:27551311:C:T Identity +NM_001363656.2:c.111G>A NP_001350585.1:p.Glu37= NC_000019.10:52212829:G:A p.(Glu37=) NC_000019.10:52212829:G:A p.(Glu37=) NC_000019.10:52212829:G:A Identity +NM_001410770.1:c.270C>T NP_001397699.1:p.Leu90= NC_000020.11:417576:C:T p.(Leu90=) NC_000020.11:417576:C:T p.(Leu90=) NC_000020.11:417576:C:T Identity +NM_001207014.3:c.558C>T NP_001193943.1:p.Pro186= NC_000011.10:75566906:C:T p.(Pro186=) NC_000011.10:75566906:C:T p.(Pro186=) NC_000011.10:75566906:C:T Identity +NM_001135659.3:c.465C>G NP_001129131.1:p.Val155= NC_000002.12:51027808:G:C p.(Val155=) NC_000002.12:51027808:G:C p.(Val155=) NC_000002.12:51027808:G:C Identity +NM_004444.5:c.2838C>T NP_004435.3:p.Asp946= NC_000007.14:100803586:G:A p.(Asp946=) NC_000007.14:100803586:G:A p.(Asp946=) NC_000007.14:100803586:G:A Identity +NM_001033053.3:c.2814C>T NP_001028225.1:p.Gly938= NC_000017.11:5539470:G:A p.(Gly938=) NC_000017.11:5539470:G:A p.(Gly938=) NC_000017.11:5539470:G:A Identity +NM_001961.4:c.795C>T NP_001952.1:p.Tyr265= NC_000019.10:3982048:G:A p.(Tyr265=) NC_000019.10:3982048:G:A p.(Tyr265=) NC_000019.10:3982048:G:A Identity +NM_001166695.3:c.330G>A NP_001160167.1:p.Ala110= NC_000005.10:36671038:G:A p.(Ala110=) NC_000005.10:36671038:G:A p.(Ala110=) NC_000005.10:36671038:G:A Identity +NM_001046.3:c.1164A>G NP_001037.1:p.Ala388= NC_000005.10:128131181:A:G p.(Ala388=) NC_000005.10:128131181:A:G p.(Ala388=) NC_000005.10:128131181:A:G Identity +NM_001184900.3:c.1102C>T NP_001171829.1:p.Leu368= NC_000019.10:48221788:G:A p.(Leu368=) NC_000019.10:48221788:G:A p.(Leu368=) NC_000019.10:48221788:G:A Identity +NM_001385400.1:c.543C>T NP_001372329.1:p.Ser181= NC_000014.9:24163924:C:T p.(Ser181=) NC_000014.9:24163924:C:T p.(Ser181=) NC_000014.9:24163924:C:T Identity +NM_001321102.2:c.798A>G NP_001308031.1:p.Arg266= NC_000002.12:3388420:A:G p.(Arg266=) NC_000002.12:3388420:A:G p.(Arg266=) NC_000002.12:3388420:A:G Identity +NM_001135999.2:c.4422A>G NP_001129471.2:p.Leu1474= NC_000009.12:35561252:A:G p.(Leu1474=) NC_000009.12:35561252:A:G p.(Leu1474=) NC_000009.12:35561252:A:G Identity +NM_001160130.2:c.2160C>T NP_001153602.1:p.Thr720= NC_000006.12:73194801:C:T p.(Thr720=) NC_000006.12:73194801:C:T p.(Thr720=) NC_000006.12:73194801:C:T Identity +NM_001160708.2:c.2346G>A NP_001154180.1:p.Leu782= NC_000012.12:106459317:G:A p.(Leu782=) NC_000012.12:106459317:G:A p.(Leu782=) NC_000012.12:106459317:G:A Identity +NM_001136193.2:c.228T>C NP_001129665.1:p.Tyr76= NC_000002.12:206766920:T:C p.(Tyr76=) NC_000002.12:206766920:T:C p.(Tyr76=) NC_000002.12:206766920:T:C Identity +NM_001080517.3:c.3855C>G NP_001073986.1:p.Pro1285= NC_000003.12:9475616:C:G p.(Pro1285=) NC_000003.12:9475616:C:G p.(Pro1285=) NC_000003.12:9475616:C:G Identity +NM_000160.5:c.28C>T NP_000151.1:p.Leu10= NC_000017.11:81809045:C:T p.(Leu10=) NC_000017.11:81809045:C:T p.(Leu10=) NC_000017.11:81809045:C:T Identity +NM_000836.4:c.345G>C NP_000827.2:p.Val115= NC_000019.10:48398736:G:C p.(Val115=) NC_000019.10:48398736:G:C p.(Val115=) NC_000019.10:48398736:G:C Identity +NM_001198938.2:c.1341G>A NP_001185867.1:p.Lys447= NC_000018.10:34858353:G:A p.(Lys447=) NC_000018.10:34858353:G:A p.(Lys447=) NC_000018.10:34858353:G:A Identity +NM_000490.5:c.195C>T NP_000481.2:p.Cys65= NC_000020.11:3083103:G:A p.(Cys65=) NC_000020.11:3083103:G:A p.(Cys65=) NC_000020.11:3083103:G:A Identity +NM_001164317.2:c.3471C>T NP_001157789.1:p.Asp1157= NC_000003.12:58123436:C:T p.(Asp1157=) NC_000003.12:58123436:C:T p.(Asp1157=) NC_000003.12:58123436:C:T Identity +NM_003126.4:c.4671C>T NP_003117.2:p.Gly1557= NC_000001.11:158642476:G:A p.(Gly1557=) NC_000001.11:158642476:G:A p.(Gly1557=) NC_000001.11:158642476:G:A Identity +NM_001068.3:c.582A>G NP_001059.2:p.Thr194= NC_000003.12:25637256:T:C p.(Thr194=) NC_000003.12:25637256:T:C p.(Thr194=) NC_000003.12:25637256:T:C Identity +NM_001145901.2:c.1032G>A NP_001139373.1:p.Leu344= NC_000019.10:38917944:C:T p.(Leu344=) NC_000019.10:38917944:C:T p.(Leu344=) NC_000019.10:38917944:C:T Identity +NM_175737.4:c.861T>C NP_783864.1:p.His287= NC_000004.12:39434244:T:C p.(His287=) NC_000004.12:39434244:T:C p.(His287=) NC_000004.12:39434244:T:C Identity +NM_001282933.2:c.243C>T NP_001269862.1:p.Pro81= NC_000020.11:33745202:C:T p.(Pro81=) NC_000020.11:33745202:C:T p.(Pro81=) NC_000020.11:33745202:C:T Identity +NM_001163812.2:c.1512A>C NP_001157284.1:p.Ala504= NC_000010.11:100990462:A:C p.(Ala504=) NC_000010.11:100990462:A:C p.(Ala504=) NC_000010.11:100990462:A:C Identity +NM_001193464.2:c.969C>T NP_001180393.1:p.Val323= NC_000002.12:43805218:C:T p.(Val323=) NC_000002.12:43805218:C:T p.(Val323=) NC_000002.12:43805218:C:T Identity +NM_017617.5:c.633T>C NP_060087.3:p.Thr211= NC_000009.12:136522958:A:G p.(Thr211=) NC_000009.12:136522958:A:G p.(Thr211=) NC_000009.12:136522958:A:G Identity +NM_000109.4:c.3312G>A NP_000100.3:p.Gly1104= NC_000023.11:32463534:C:T p.(Gly1104=) NC_000023.11:32463534:C:T p.(Gly1104=) NC_000023.11:32463534:C:T Identity +NM_005149.3:c.1029C>T NP_005140.1:p.Asn343= NC_000001.11:168308853:C:T p.(Asn343=) NC_000001.11:168308853:C:T p.(Asn343=) NC_000001.11:168308853:C:T Identity +NM_001039675.2:c.1065C>T NP_001034764.1:p.Ser355= NC_000015.10:90944973:C:T p.(Ser355=) NC_000015.10:90944973:C:T p.(Ser355=) NC_000015.10:90944973:C:T Identity +NM_001014797.3:c.2466C>T NP_001014797.1:p.His822= NC_000010.11:76949222:G:A p.(His822=) NC_000010.11:76949222:G:A p.(His822=) NC_000010.11:76949222:G:A Identity +NM_001270476.2:c.870A>G NP_001257405.1:p.Arg290= NC_000006.12:43009392:A:G p.(Arg290=) NC_000006.12:43009392:A:G p.(Arg290=) NC_000006.12:43009392:A:G Identity +NM_001288705.3:c.2766C>T NP_001275634.1:p.Asp922= NC_000005.10:150054221:G:A p.(Asp922=) NC_000005.10:150054221:G:A p.(Asp922=) NC_000005.10:150054221:G:A Identity +NM_001261826.3:c.52C>T NP_001248755.1:p.Leu18= NC_000019.10:2151282:G:A p.(Leu18=) NC_000019.10:2151282:G:A p.(Leu18=) NC_000019.10:2151282:G:A Identity +NM_001312691.1:c.961T>C NP_001299620.1:p.Leu321= NC_000001.11:39844607:A:G p.(Leu321=) NC_000001.11:39844607:A:G p.(Leu321=) NC_000001.11:39844607:A:G Identity +NM_001321309.2:c.3822G>C NP_001308238.1:p.Arg1274= NC_000003.12:123649035:C:G p.(Arg1274=) NC_000003.12:123649035:C:G p.(Arg1274=) NC_000003.12:123649035:C:G Identity +NM_001411025.1:c.5280C>T NP_001397954.1:p.Ser1760= NC_000011.10:66691589:G:A p.(Ser1760=) NC_000011.10:66691589:G:A p.(Ser1760=) NC_000011.10:66691589:G:A Identity +NM_001195573.1:c.4701G>C NP_001182502.1:p.Leu1567= NC_000014.9:95096218:C:G p.(Leu1567=) NC_000014.9:95096218:C:G p.(Leu1567=) NC_000014.9:95096218:C:G Identity +NM_001375567.1:c.1740A>G NP_001362496.1:p.Gln580= NC_000009.12:20821017:A:G p.(Gln580=) NC_000009.12:20821017:A:G p.(Gln580=) NC_000009.12:20821017:A:G Identity +NM_003036.4:c.156C>T NP_003027.1:p.Ala52= NC_000001.11:2228921:C:T p.(Ala52=) NC_000001.11:2228921:C:T p.(Ala52=) NC_000001.11:2228921:C:T Identity +NM_001322194.2:c.1528C>T NP_001309123.1:p.Leu510= NC_000009.12:5069938:C:T p.(Leu510=) NC_000009.12:5069938:C:T p.(Leu510=) NC_000009.12:5069938:C:T Identity +NM_001351018.2:c.1480C>A NP_001337947.1:p.Arg494= NC_000012.12:122232895:G:T p.(Arg494=) NC_000012.12:122232895:G:T p.(Arg494=) NC_000012.12:122232895:G:T Identity +NM_138459.5:c.384C>T NP_612468.1:p.Gly128= NC_000006.12:117676053:C:T p.(Gly128=) NC_000006.12:117676053:C:T p.(Gly128=) NC_000006.12:117676053:C:T Identity +NM_001377456.1:c.1353C>A NP_001364385.1:p.Val451= NC_000016.10:56500897:G:T p.(Val451=) NC_000016.10:56500897:G:T p.(Val451=) NC_000016.10:56500897:G:T Identity +NM_001046.3:c.771T>C NP_001037.1:p.Asp257= NC_000005.10:128112827:T:C p.(Asp257=) NC_000005.10:128112827:T:C p.(Asp257=) NC_000005.10:128112827:T:C Identity +NM_006766.5:c.4959A>C NP_006757.2:p.Pro1653= NC_000008.11:41933260:T:G p.(Pro1653=) NC_000008.11:41933260:T:G p.(Pro1653=) NC_000008.11:41933260:T:G Identity +NM_152424.4:c.2193C>T NP_689637.3:p.Asp731= NC_000023.11:64191093:G:A p.(Asp731=) NC_000023.11:64191093:G:A p.(Asp731=) NC_000023.11:64191093:G:A Identity +NM_001378183.1:c.2160C>T NP_001365112.1:p.Ala720= NC_000018.10:10789087:G:A p.(Ala720=) NC_000018.10:10789087:G:A p.(Ala720=) NC_000018.10:10789087:G:A Identity +NM_003620.4:c.1726_1727del NP_003611.1:p.Ser575_Val576insTer NC_000017.11:60663458:TGT:T p.(Val576Ter) NC_000017.11:60663458:TGT:T p.(Val576Ter) NC_000017.11:60663459:GT: Analogous +NM_001382394.1:c.351C>T NP_001369323.1:p.His117= NC_000002.12:39056839:G:A p.(His117=) NC_000002.12:39056839:G:A p.(His117=) NC_000002.12:39056839:G:A Identity +NM_001166418.2:c.384A>G NP_001159890.1:p.Leu128= NC_000023.11:72489012:T:C p.(Leu128=) NC_000023.11:72489012:T:C p.(Leu128=) NC_000023.11:72489012:T:C Identity +NM_000542.5:c.1050G>A NP_000533.4:p.Val350= NC_000002.12:85662061:C:T p.(Val350=) NC_000002.12:85662061:C:T p.(Val350=) NC_000002.12:85662061:C:T Identity +NM_001130823.3:c.3915C>A NP_001124295.1:p.Arg1305= NC_000019.10:10139708:G:T p.(Arg1305=) NC_000019.10:10139708:G:T p.(Arg1305=) NC_000019.10:10139708:G:T Identity +NM_001352017.2:c.312C>G NP_001338946.1:p.Ala104= NC_000016.10:871275:G:C p.(Ala104=) NC_000016.10:871275:G:C p.(Ala104=) NC_000016.10:871275:G:C Identity +NM_006015.6:c.4551C>G NP_006006.3:p.Ala1517= NC_000001.11:26774777:C:G p.(Ala1517=) NC_000001.11:26774777:C:G p.(Ala1517=) NC_000001.11:26774777:C:G Identity +NM_014241.4:c.831G>T NP_055056.3:p.Val277= NC_000010.11:17590399:C:A p.(Val277=) NC_000010.11:17590399:C:A p.(Val277=) NC_000010.11:17590399:C:A Identity +NM_001205206.4:c.117G>A NP_001192135.1:p.Ala39= NC_000021.9:45537842:C:T p.(Ala39=) NC_000021.9:45537842:C:T p.(Ala39=) NC_000021.9:45537842:C:T Identity +NM_182493.3:c.594G>A NP_872299.2:p.Glu198= NC_000016.10:46738117:C:T p.(Glu198=) NC_000016.10:46738117:C:T p.(Glu198=) NC_000016.10:46738117:C:T Identity +NM_001385110.1:c.1464T>C NP_001372039.1:p.Ala488= NC_000012.12:56349002:A:G p.(Ala488=) NC_000012.12:56349002:A:G p.(Ala488=) NC_000012.12:56349002:A:G Identity +NM_000190.4:c.658T>C NP_000181.2:p.Leu220= NC_000011.10:119092409:T:C p.(Leu220=) NC_000011.10:119092409:T:C p.(Leu220=) NC_000011.10:119092409:T:C Identity +NM_001406021.1:c.1071T>C NP_001392950.1:p.Tyr357= NC_000012.12:112919444:T:C p.(Tyr357=) NC_000012.12:112919444:T:C p.(Tyr357=) NC_000012.12:112919444:T:C Identity +NM_000283.4:c.2295C>T NP_000274.3:p.Ala765= NC_000004.12:666556:C:T p.(Ala765=) NC_000004.12:666556:C:T p.(Ala765=) NC_000004.12:666556:C:T Identity +NM_001033046.4:c.408C>T NP_001028218.1:p.His136= NC_000017.11:82444481:G:A p.(His136=) NC_000017.11:82444481:G:A p.(His136=) NC_000017.11:82444481:G:A Identity +NM_001321431.2:c.4218C>T NP_001308360.1:p.Asp1406= NC_000019.10:8110959:G:A p.(Asp1406=) NC_000019.10:8110959:G:A p.(Asp1406=) NC_000019.10:8110959:G:A Identity +NM_006063.3:c.1758T>A NP_006054.2:p.Arg586= NC_000002.12:169525632:T:A p.(Arg586=) NC_000002.12:169525632:T:A p.(Arg586=) NC_000002.12:169525632:T:A Identity +NM_001243254.2:c.933C>A NP_001230183.1:p.Ile311= NC_000011.10:9203675:G:T p.(Ile311=) NC_000011.10:9203675:G:T p.(Ile311=) NC_000011.10:9203675:G:T Identity +NM_005157.6:c.2784G>T NP_005148.2:p.Leu928= NC_000009.12:130885073:G:T p.(Leu928=) NC_000009.12:130885073:G:T p.(Leu928=) NC_000009.12:130885073:G:T Identity +NM_000821.7:c.1974C>G NP_000812.2:p.Thr658= NC_000002.12:85550664:G:C p.(Thr658=) NC_000002.12:85550664:G:C p.(Thr658=) NC_000002.12:85550664:G:C Identity +NM_001004356.3:c.1317C>T NP_001004356.1:p.Ser439= NC_000004.12:1025148:C:T p.(Ser439=) NC_000004.12:1025148:C:T p.(Ser439=) NC_000004.12:1025148:C:T Identity +NM_001160036.2:c.117C>T NP_001153508.1:p.Cys39= NC_000008.11:23004484:C:T p.(Cys39=) NC_000008.11:23004484:C:T p.(Cys39=) NC_000008.11:23004484:C:T Identity +NM_001318360.2:c.1673_1674insTAA NP_001305289.1:p.Thr558_Leu559insLys NC_000009.12:108900374::TTA p.(Thr558_Leu559insLys) NC_000009.12:108900373:T:TTA p.(Thr558_Leu559insLys) NC_000009.12:108900374:TG:TTA Identity +NM_001146702.2:c.1191C>T NP_001140174.1:p.Pro397= NC_000023.11:53211505:G:A p.(Pro397=) NC_000023.11:53211505:G:A p.(Pro397=) NC_000023.11:53211505:G:A Identity +NM_001261826.3:c.2058G>A NP_001248755.1:p.Ser686= NC_000019.10:2116221:C:T p.(Ser686=) NC_000019.10:2116221:C:T p.(Ser686=) NC_000019.10:2116221:C:T Identity +NM_000836.4:c.174G>C NP_000827.2:p.Ser58= NC_000019.10:48398565:G:C p.(Ser58=) NC_000019.10:48398565:G:C p.(Ser58=) NC_000019.10:48398565:G:C Identity +NM_001372.4:c.11307C>A NP_001363.2:p.Val3769= NC_000017.11:11894396:C:A p.(Val3769=) NC_000017.11:11894396:C:A p.(Val3769=) NC_000017.11:11894396:C:A Identity +NM_001315529.2:c.3750G>A NP_001302458.1:p.Leu1250= NC_000021.9:46391263:G:A p.(Leu1250=) NC_000021.9:46391263:G:A p.(Leu1250=) NC_000021.9:46391263:G:A Identity +NM_031407.7:c.2982G>A NP_113584.3:p.Gln994= NC_000023.11:53600298:C:T p.(Gln994=) NC_000023.11:53600298:C:T p.(Gln994=) NC_000023.11:53600298:C:T Identity +NM_001846.4:c.4263C>T NP_001837.2:p.Pro1421= NC_000013.11:110503970:C:T p.(Pro1421=) NC_000013.11:110503970:C:T p.(Pro1421=) NC_000013.11:110503970:C:T Identity +NM_001024956.3:c.333G>A NP_001020127.1:p.Glu111= NC_000011.10:121304482:G:A p.(Glu111=) NC_000011.10:121304482:G:A p.(Glu111=) NC_000011.10:121304482:G:A Identity +NM_001258446.1:c.393C>T NP_001245375.1:p.Pro131= NC_000008.11:143324613:G:A p.(Pro131=) NC_000008.11:143324613:G:A p.(Pro131=) NC_000008.11:143324613:G:A Identity +NM_001411025.1:c.2052C>T NP_001397954.1:p.Leu684= NC_000011.10:66705244:G:A p.(Leu684=) NC_000011.10:66705244:G:A p.(Leu684=) NC_000011.10:66705244:G:A Identity +NM_001243254.2:c.783G>A NP_001230183.1:p.Lys261= NC_000011.10:9203825:C:T p.(Lys261=) NC_000011.10:9203825:C:T p.(Lys261=) NC_000011.10:9203825:C:T Identity +NM_001328.3:c.9C>T NP_001319.1:p.Ser3= NC_000004.12:1248946:G:A p.(Ser3=) NC_000004.12:1248946:G:A p.(Ser3=) NC_000004.12:1248946:G:A Identity +NM_000901.5:c.1113G>A NP_000892.2:p.Glu371= NC_000004.12:148435747:C:T p.(Glu371=) NC_000004.12:148435747:C:T p.(Glu371=) NC_000004.12:148435747:C:T Identity +NM_000428.3:c.4458G>A NP_000419.1:p.Ala1486= NC_000014.9:74504049:C:T p.(Ala1486=) NC_000014.9:74504049:C:T p.(Ala1486=) NC_000014.9:74504049:C:T Identity +NM_000188.3:c.1560C>G NP_000179.2:p.Pro520= NC_000010.11:69382780:C:G p.(Pro520=) NC_000010.11:69382780:C:G p.(Pro520=) NC_000010.11:69382780:C:G Identity +NM_001077525.3:c.414C>G NP_001070993.1:p.Gly138= NC_000003.12:9662371:C:G p.(Gly138=) NC_000003.12:9662371:C:G p.(Gly138=) NC_000003.12:9662371:C:G Identity +NM_022047.4:c.33C>T NP_071330.3:p.Ile11= NC_000006.12:35297888:C:T p.(Ile11=) NC_000006.12:35297888:C:T p.(Ile11=) NC_000006.12:35297888:C:T Identity +NM_006662.3:c.5325A>T NP_006653.2:p.Ser1775= NC_000016.10:30724748:A:T p.(Ser1775=) NC_000016.10:30724748:A:T p.(Ser1775=) NC_000016.10:30724748:A:T Identity +NM_001207000.1:c.762A>G NP_001193929.1:p.Gly254= NC_000004.12:82428029:T:C p.(Gly254=) NC_000004.12:82428029:T:C p.(Gly254=) NC_000004.12:82428029:T:C Identity +NM_003705.5:c.135A>C NP_003696.2:p.Gly45= NC_000002.12:171868754:T:G p.(Gly45=) NC_000002.12:171868754:T:G p.(Gly45=) NC_000002.12:171868754:T:G Identity +NM_001024858.4:c.3444T>G NP_001020029.1:p.Thr1148= NC_000014.9:64786520:A:C p.(Thr1148=) NC_000014.9:64786520:A:C p.(Thr1148=) NC_000014.9:64786520:A:C Identity +NM_001197104.2:c.2469G>A NP_001184033.1:p.Pro823= NC_000011.10:118473627:G:A p.(Pro823=) NC_000011.10:118473627:G:A p.(Pro823=) NC_000011.10:118473627:G:A Identity +NM_005220.3:c.606T>C NP_005211.1:p.Ser202= NC_000017.11:49991774:A:G p.(Ser202=) NC_000017.11:49991774:A:G p.(Ser202=) NC_000017.11:49991774:A:G Identity +NM_001396000.1:c.756C>T NP_001382929.1:p.Asn252= NC_000019.10:41894461:C:T p.(Asn252=) NC_000019.10:41894461:C:T p.(Asn252=) NC_000019.10:41894461:C:T Identity +NM_000785.4:c.429G>A NP_000776.1:p.Pro143= NC_000012.12:57765456:C:T p.(Pro143=) NC_000012.12:57765456:C:T p.(Pro143=) NC_000012.12:57765456:C:T Identity +NM_001377289.1:c.561T>C NP_001364218.1:p.Gly187= NC_000006.12:70266767:A:G p.(Gly187=) NC_000006.12:70266767:A:G p.(Gly187=) NC_000006.12:70266767:A:G Identity +NM_001199799.2:c.141C>T NP_001186728.1:p.Tyr47= NC_000003.12:122007078:G:A p.(Tyr47=) NC_000003.12:122007078:G:A p.(Tyr47=) NC_000003.12:122007078:G:A Identity +NM_001320923.2:c.153C>T NP_001307852.1:p.Gly51= NC_000001.11:64883328:G:A p.(Gly51=) NC_000001.11:64883328:G:A p.(Gly51=) NC_000001.11:64883328:G:A Identity +NM_001372.4:c.8440T>C NP_001363.2:p.Leu2814= NC_000017.11:11807750:T:C p.(Leu2814=) NC_000017.11:11807750:T:C p.(Leu2814=) NC_000017.11:11807750:T:C Identity +NM_001042544.1:c.4563T>C NP_001036009.1:p.Tyr1521= NC_000019.10:40627350:T:C p.(Tyr1521=) NC_000019.10:40627350:T:C p.(Tyr1521=) NC_000019.10:40627350:T:C Identity +NM_006662.3:c.2697A>G NP_006653.2:p.Lys899= NC_000016.10:30716358:A:G p.(Lys899=) NC_000016.10:30716358:A:G p.(Lys899=) NC_000016.10:30716358:A:G Identity +NM_001080517.3:c.2808A>T NP_001073986.1:p.Leu936= NC_000003.12:9470541:A:T p.(Leu936=) NC_000003.12:9470541:A:T p.(Leu936=) NC_000003.12:9470541:A:T Identity +NM_001127493.3:c.984G>A NP_001120965.1:p.Lys328= NC_000004.12:113255790:G:A p.(Lys328=) NC_000004.12:113255790:G:A p.(Lys328=) NC_000004.12:113255790:G:A Identity +NM_001411025.1:c.1347C>T NP_001397954.1:p.Ser449= NC_000011.10:66708164:G:A p.(Ser449=) NC_000011.10:66708164:G:A p.(Ser449=) NC_000011.10:66708164:G:A Identity +NM_003922.4:c.1725T>G NP_003913.3:p.Ala575= NC_000015.10:63754553:A:C p.(Ala575=) NC_000015.10:63754553:A:C p.(Ala575=) NC_000015.10:63754553:A:C Identity +NM_013432.5:c.2989C>T NP_038460.4:p.Leu997= NC_000008.11:144435033:G:A p.(Leu997=) NC_000008.11:144435033:G:A p.(Leu997=) NC_000008.11:144435033:G:A Identity +NM_001267039.4:c.876A>C NP_001253968.2:p.Thr292= NC_000004.12:112647427:A:C p.(Thr292=) NC_000004.12:112647427:A:C p.(Thr292=) NC_000004.12:112647427:A:C Identity +NM_001018064.3:c.2094C>T NP_001018074.1:p.Ser698= NC_000009.12:84955486:C:T p.(Ser698=) NC_000009.12:84955486:C:T p.(Ser698=) NC_000009.12:84955486:C:T Identity +NM_001349896.1:c.1677G>A NP_001336825.1:p.Glu559= NC_000022.11:26463952:C:T p.(Glu559=) NC_000022.11:26463952:C:T p.(Glu559=) NC_000022.11:26463952:C:T Identity +NM_001271667.2:c.507G>A NP_001258596.1:p.Glu169= NC_000006.12:15524586:C:T p.(Glu169=) NC_000006.12:15524586:C:T p.(Glu169=) NC_000006.12:15524586:C:T Identity +NM_001018088.3:c.9552A>G NP_001018098.1:p.Leu3184= NC_000015.10:61882667:T:C p.(Leu3184=) NC_000015.10:61882667:T:C p.(Leu3184=) NC_000015.10:61882667:T:C Identity +NM_000780.4:c.1213T>C NP_000771.2:p.Leu405= NC_000008.11:58492354:A:G p.(Leu405=) NC_000008.11:58492354:A:G p.(Leu405=) NC_000008.11:58492354:A:G Identity +NM_001277126.2:c.1723C>T NP_001264055.1:p.Leu575= NC_000019.10:53809935:G:A p.(Leu575=) NC_000019.10:53809935:G:A p.(Leu575=) NC_000019.10:53809935:G:A Identity +NM_001942.4:c.1374A>T NP_001933.2:p.Gly458= NC_000018.10:31338422:A:T p.(Gly458=) NC_000018.10:31338422:A:T p.(Gly458=) NC_000018.10:31338422:A:T Identity +NM_001304288.2:c.129T>C NP_001291217.1:p.Ser43= NC_000003.12:39407781:T:C p.(Ser43=) NC_000003.12:39407781:T:C p.(Ser43=) NC_000003.12:39407781:T:C Identity +NM_001291415.2:c.2049G>T NP_001278344.1:p.Pro683= NC_000023.11:45063786:G:T p.(Pro683=) NC_000023.11:45063786:G:T p.(Pro683=) NC_000023.11:45063786:G:T Identity +NM_000392.5:c.2673G>A NP_000383.2:p.Val891= NC_000010.11:99830358:G:A p.(Val891=) NC_000010.11:99830358:G:A p.(Val891=) NC_000010.11:99830358:G:A Identity +NM_004963.4:c.774G>A NP_004954.2:p.Leu258= NC_000012.12:14679712:C:T p.(Leu258=) NC_000012.12:14679712:C:T p.(Leu258=) NC_000012.12:14679712:C:T Identity +NM_000701.8:c.2628C>T NP_000692.2:p.Asn876= NC_000001.11:116400915:C:T p.(Asn876=) NC_000001.11:116400915:C:T p.(Asn876=) NC_000001.11:116400915:C:T Identity +NM_001278463.2:c.1086T>C NP_001265392.1:p.Gly362= NC_000012.12:32731019:T:C p.(Gly362=) NC_000012.12:32731019:T:C p.(Gly362=) NC_000012.12:32731019:T:C Identity +NM_003737.4:c.7005G>A NP_003728.1:p.Gly2335= NC_000011.10:6625338:C:T p.(Gly2335=) NC_000011.10:6625338:C:T p.(Gly2335=) NC_000011.10:6625338:C:T Identity +NM_001123066.4:c.2295C>T NP_001116538.2:p.Asp765= NC_000017.11:46024134:C:T p.(Asp765=) NC_000017.11:46024134:C:T p.(Asp765=) NC_000017.11:46024134:C:T Identity +NM_002858.4:c.987T>C NP_002849.1:p.Gly329= NC_000001.11:94487712:T:C p.(Gly329=) NC_000001.11:94487712:T:C p.(Gly329=) NC_000001.11:94487712:T:C Identity +NM_001164097.2:c.1663C>T NP_001157569.1:p.Leu555= NC_000005.10:83537626:C:T p.(Leu555=) NC_000005.10:83537626:C:T p.(Leu555=) NC_000005.10:83537626:C:T Identity +NM_001942.4:c.2670G>C NP_001933.2:p.Ser890= NC_000018.10:31354865:G:C p.(Ser890=) NC_000018.10:31354865:G:C p.(Ser890=) NC_000018.10:31354865:G:C Identity +NM_001128929.3:c.612G>C NP_001122401.1:p.Leu204= NC_000003.12:77481115:G:C p.(Leu204=) NC_000003.12:77481115:G:C p.(Leu204=) NC_000003.12:77481115:G:C Identity +NM_015378.4:c.5865T>A NP_056193.2:p.Pro1955= NC_000001.11:12293535:T:A p.(Pro1955=) NC_000001.11:12293535:T:A p.(Pro1955=) NC_000001.11:12293535:T:A Identity +NM_001379500.1:c.2406G>A NP_001366429.1:p.Lys802= NC_000021.9:45494887:G:A p.(Lys802=) NC_000021.9:45494887:G:A p.(Lys802=) NC_000021.9:45494887:G:A Identity +NM_000720.4:c.966T>C NP_000711.1:p.Asn322= NC_000003.12:53666384:T:C p.(Asn322=) NC_000003.12:53666384:T:C p.(Asn322=) NC_000003.12:53666384:T:C Identity +NM_001167614.2:c.387C>G NP_001161086.1:p.Pro129= NC_000012.12:65169982:C:G p.(Pro129=) NC_000012.12:65169982:C:G p.(Pro129=) NC_000012.12:65169982:C:G Identity +NM_001257180.2:c.1137G>A NP_001244109.1:p.Leu379= NC_000008.11:42437374:C:T p.(Leu379=) NC_000008.11:42437374:C:T p.(Leu379=) NC_000008.11:42437374:C:T Identity +NM_001077397.1:c.1119C>T NP_001070865.1:p.Ile373= NC_000001.11:234607733:G:A p.(Ile373=) NC_000001.11:234607733:G:A p.(Ile373=) NC_000001.11:234607733:G:A Identity +NM_000789.4:c.2877C>G NP_000780.1:p.Ala959= NC_000017.11:63491345:C:G p.(Ala959=) NC_000017.11:63491345:C:G p.(Ala959=) NC_000017.11:63491345:C:G Identity +NM_001243254.2:c.1914A>G NP_001230183.1:p.Ala638= NC_000011.10:9170769:T:C p.(Ala638=) NC_000011.10:9170769:T:C p.(Ala638=) NC_000011.10:9170769:T:C Identity +NM_000751.3:c.201A>G NP_000742.1:p.Lys67= NC_000002.12:232527402:A:G p.(Lys67=) NC_000002.12:232527402:A:G p.(Lys67=) NC_000002.12:232527402:A:G Identity +NM_001352252.2:c.297C>T NP_001339181.1:p.Leu99= NC_000013.11:110647210:G:A p.(Leu99=) NC_000013.11:110647210:G:A p.(Leu99=) NC_000013.11:110647210:G:A Identity +NM_001177310.2:c.2100G>C NP_001170781.1:p.Ser700= NC_000009.12:74800376:C:G p.(Ser700=) NC_000009.12:74800376:C:G p.(Ser700=) NC_000009.12:74800376:C:G Identity +NM_001128844.3:c.3570C>G NP_001122316.1:p.Ala1190= NC_000019.10:11033312:C:G p.(Ala1190=) NC_000019.10:11033312:C:G p.(Ala1190=) NC_000019.10:11033312:C:G Identity +NM_001142555.3:c.1506C>T NP_001136027.1:p.Pro502= NC_000019.10:40692040:G:A p.(Pro502=) NC_000019.10:40692040:G:A p.(Pro502=) NC_000019.10:40692040:G:A Identity +NM_004994.3:c.634C>T NP_004985.2:p.Leu212= NC_000020.11:46011034:C:T p.(Leu212=) NC_000020.11:46011034:C:T p.(Leu212=) NC_000020.11:46011034:C:T Identity +NM_005879.3:c.996C>T NP_005870.2:p.Ser332= NC_000003.12:49831956:G:A p.(Ser332=) NC_000003.12:49831956:G:A p.(Ser332=) NC_000003.12:49831956:G:A Identity +NM_002838.5:c.300T>C NP_002829.3:p.Gly100= NC_000001.11:198699564:T:C p.(Gly100=) NC_000001.11:198699564:T:C p.(Gly100=) NC_000001.11:198699564:T:C Identity +NM_001385678.1:c.1203G>A NP_001372607.1:p.Lys401= NC_000019.10:4817132:C:T p.(Lys401=) NC_000019.10:4817132:C:T p.(Lys401=) NC_000019.10:4817132:C:T Identity +NM_001242366.3:c.258C>G NP_001229295.1:p.Thr86= NC_000017.11:28405438:G:C p.(Thr86=) NC_000017.11:28405438:G:C p.(Thr86=) NC_000017.11:28405438:G:C Identity +NM_001396000.1:c.1806C>T NP_001382929.1:p.Arg602= NC_000019.10:41902797:C:T p.(Arg602=) NC_000019.10:41902797:C:T p.(Arg602=) NC_000019.10:41902797:C:T Identity +NM_001033053.3:c.949T>C NP_001028225.1:p.Leu317= NC_000017.11:5559746:A:G p.(Leu317=) NC_000017.11:5559746:A:G p.(Leu317=) NC_000017.11:5559746:A:G Identity +NM_005557.4:c.1401C>T NP_005548.2:p.Phe467= NC_000017.11:41609955:G:A p.(Phe467=) NC_000017.11:41609955:G:A p.(Phe467=) NC_000017.11:41609955:G:A Identity +NM_001080414.4:c.1014G>A NP_001073883.2:p.Lys338= NC_000014.9:91338040:C:T p.(Lys338=) NC_000014.9:91338040:C:T p.(Lys338=) NC_000014.9:91338040:C:T Identity +NM_001204269.2:c.588T>C NP_001191198.1:p.His196= NC_000001.11:110604194:A:G p.(His196=) NC_000001.11:110604194:A:G p.(His196=) NC_000001.11:110604194:A:G Identity +NM_003801.4:c.66G>A NP_003792.1:p.Ala22= NC_000008.11:144082795:G:A p.(Ala22=) NC_000008.11:144082795:G:A p.(Ala22=) NC_000008.11:144082795:G:A Identity +NM_001042529.3:c.243G>A NP_001035994.1:p.Leu81= NC_000017.11:42562864:G:A p.(Leu81=) NC_000017.11:42562864:G:A p.(Leu81=) NC_000017.11:42562864:G:A Identity +NM_003108.4:c.30G>A NP_003099.1:p.Ala10= NC_000002.12:5692750:G:A p.(Ala10=) NC_000002.12:5692750:G:A p.(Ala10=) NC_000002.12:5692750:G:A Identity +NM_001029896.2:c.546G>A NP_001025067.1:p.Ser182= NC_000023.11:49075723:C:T p.(Ser182=) NC_000023.11:49075723:C:T p.(Ser182=) NC_000023.11:49075723:C:T Identity +NM_006662.3:c.7672T>C NP_006653.2:p.Leu2558= NC_000016.10:30737711:T:C p.(Leu2558=) NC_000016.10:30737711:T:C p.(Leu2558=) NC_000016.10:30737711:T:C Identity +NM_001374782.1:c.282G>A NP_001361711.1:p.Val94= NC_000010.11:51074871:G:A p.(Val94=) NC_000010.11:51074871:G:A p.(Val94=) NC_000010.11:51074871:G:A Identity +NM_001346850.2:c.1518C>T NP_001333779.1:p.Asp506= NC_000012.12:7070602:C:T p.(Asp506=) NC_000012.12:7070602:C:T p.(Asp506=) NC_000012.12:7070602:C:T Identity +NM_017807.4:c.12G>A NP_060277.1:p.Val4= NC_000014.9:20454671:C:T p.(Val4=) NC_000014.9:20454671:C:T p.(Val4=) NC_000014.9:20454671:C:T Identity +NM_000064.4:c.3141G>A NP_000055.2:p.Glu1047= NC_000019.10:6694443:C:T p.(Glu1047=) NC_000019.10:6694443:C:T p.(Glu1047=) NC_000019.10:6694443:C:T Identity +NM_001315529.2:c.3519T>C NP_001302458.1:p.Phe1173= NC_000021.9:46390701:T:C p.(Phe1173=) NC_000021.9:46390701:T:C p.(Phe1173=) NC_000021.9:46390701:T:C Identity +NM_016360.4:c.363G>A NP_057444.2:p.Thr121= NC_000017.11:63604615:G:A p.(Thr121=) NC_000017.11:63604615:G:A p.(Thr121=) NC_000017.11:63604615:G:A Identity +NM_001289939.2:c.1218C>T NP_001276868.1:p.Val406= NC_000005.10:36683929:C:T p.(Val406=) NC_000005.10:36683929:C:T p.(Val406=) NC_000005.10:36683929:C:T Identity +NM_001197104.2:c.4788T>C NP_001184033.1:p.His1596= NC_000011.10:118491286:T:C p.(His1596=) NC_000011.10:118491286:T:C p.(His1596=) NC_000011.10:118491286:T:C Identity +NM_003906.5:c.2091C>T NP_003897.2:p.Leu697= NC_000021.9:46273492:G:A p.(Leu697=) NC_000021.9:46273492:G:A p.(Leu697=) NC_000021.9:46273492:G:A Identity +NM_001440.4:c.2517T>G NP_001431.1:p.Leu839= NC_000008.11:28743180:T:G p.(Leu839=) NC_000008.11:28743180:T:G p.(Leu839=) NC_000008.11:28743180:T:G Identity +NM_001369268.1:c.6861C>G NP_001356197.1:p.Pro2287= NC_000015.10:88860353:C:G p.(Pro2287=) NC_000015.10:88860353:C:G p.(Pro2287=) NC_000015.10:88860353:C:G Identity +NM_001135999.2:c.666C>G NP_001129471.2:p.Gly222= NC_000009.12:35547186:C:G p.(Gly222=) NC_000009.12:35547186:C:G p.(Gly222=) NC_000009.12:35547186:C:G Identity +NM_001351846.2:c.333G>A NP_001338775.1:p.Ala111= NC_000016.10:1494613:G:A p.(Ala111=) NC_000016.10:1494613:G:A p.(Ala111=) NC_000016.10:1494613:G:A Identity +NM_001105206.3:c.1341A>G NP_001098676.2:p.Ala447= NC_000006.12:112175328:T:C p.(Ala447=) NC_000006.12:112175328:T:C p.(Ala447=) NC_000006.12:112175328:T:C Identity +NM_020745.4:c.1212C>T NP_065796.2:p.Asp404= NC_000006.12:44306367:G:A p.(Asp404=) NC_000006.12:44306367:G:A p.(Asp404=) NC_000006.12:44306367:G:A Identity +NM_001282164.2:c.861C>T NP_001269093.1:p.Tyr287= NC_000012.12:132621311:C:T p.(Tyr287=) NC_000012.12:132621311:C:T p.(Tyr287=) NC_000012.12:132621311:C:T Identity +NM_001114101.3:c.243C>T NP_001107573.1:p.Pro81= NC_000001.11:22647287:C:T p.(Pro81=) NC_000001.11:22647287:C:T p.(Pro81=) NC_000001.11:22647287:C:T Identity +NM_001365940.2:c.339T>C NP_001352869.1:p.Gly113= NC_000003.12:139518435:A:G p.(Gly113=) NC_000003.12:139518435:A:G p.(Gly113=) NC_000003.12:139518435:A:G Identity +NM_001128602.2:c.2208T>C NP_001122074.1:p.Tyr736= NC_000015.10:38490634:A:G p.(Tyr736=) NC_000015.10:38490634:A:G p.(Tyr736=) NC_000015.10:38490634:A:G Identity +NM_001177316.2:c.1089T>C NP_001170787.2:p.Asn363= NC_000009.12:137234271:T:C p.(Asn363=) NC_000009.12:137234271:T:C p.(Asn363=) NC_000009.12:137234271:T:C Identity +NM_014727.3:c.5526C>T NP_055542.1:p.Asp1842= NC_000019.10:35731995:C:T p.(Asp1842=) NC_000019.10:35731995:C:T p.(Asp1842=) NC_000019.10:35731995:C:T Identity +NM_003922.4:c.7473C>T NP_003913.3:p.His2491= NC_000015.10:63674714:G:A p.(His2491=) NC_000015.10:63674714:G:A p.(His2491=) NC_000015.10:63674714:G:A Identity +NM_000425.5:c.1179C>T NP_000416.1:p.Asn393= NC_000023.11:153869607:G:A p.(Asn393=) NC_000023.11:153869607:G:A p.(Asn393=) NC_000023.11:153869607:G:A Identity +NM_033343.4:c.342C>T NP_203129.1:p.Cys114= NC_000001.11:180266484:C:T p.(Cys114=) NC_000001.11:180266484:C:T p.(Cys114=) NC_000001.11:180266484:C:T Identity +NM_015202.5:c.1953G>A NP_056017.4:p.Gly651= NC_000016.10:27740249:G:A p.(Gly651=) NC_000016.10:27740249:G:A p.(Gly651=) NC_000016.10:27740249:G:A Identity +NM_001291088.2:c.6834G>A NP_001278017.1:p.Lys2278= NC_000019.10:37886836:C:T p.(Lys2278=) NC_000019.10:37886836:C:T p.(Lys2278=) NC_000019.10:37886836:C:T Identity +NM_001324112.2:c.63C>A NP_001311041.1:p.Gly21= NC_000008.11:64798524:G:T p.(Gly21=) NC_000008.11:64798524:G:T p.(Gly21=) NC_000008.11:64798524:G:T Identity +NM_014855.3:c.282C>T NP_055670.1:p.Ser94= NC_000007.14:4781669:C:T p.(Ser94=) NC_000007.14:4781669:C:T p.(Ser94=) NC_000007.14:4781669:C:T Identity +NM_001079843.3:c.3333C>T NP_001073312.1:p.Pro1111= NC_000001.11:10647964:G:A p.(Pro1111=) NC_000001.11:10647964:G:A p.(Pro1111=) NC_000001.11:10647964:G:A Identity +NM_000335.5:c.5900_5908del NP_000326.2:p.Ile1967_Ser1969del NC_000003.12:38550460:TGGAGGAGATGGAGGAG:TGGAGGAG p.(Ile1967_Ser1969del) NC_000003.12:38550460:TGGAGGAGATGGAGGAG:TGGAGGAG p.(Ile1967_Ser1969del) NC_000003.12:38550460:TGGAGGAGA: Identity +NM_001128204.2:c.1293G>A NP_001121676.1:p.Gln431= NC_000008.11:69604847:G:A p.(Gln431=) NC_000008.11:69604847:G:A p.(Gln431=) NC_000008.11:69604847:G:A Identity +NM_001005498.4:c.495G>A NP_001005498.2:p.Arg165= NC_000017.11:76478982:C:T p.(Arg165=) NC_000017.11:76478982:C:T p.(Arg165=) NC_000017.11:76478982:C:T Identity +NM_001164271.2:c.412TTCAGC[3] NP_001157743.1:p.Ser141_Met142insPheSer NC_000008.11:13100380:GCTGAAGCTGAAGCTG:GCTGAAGCTGAAGCTGAAGCTG p.(Phe140_Ser141dup) NC_000008.11:13100391:A:GCTGAAGCTGAAGCTGAA ERR:Parse ERR:Parse Analogous +NM_178857.6:c.426C>A NP_849188.4:p.Ser142= NC_000008.11:10622775:G:T p.(Ser142=) NC_000008.11:10622775:G:T p.(Ser142=) NC_000008.11:10622775:G:T Identity +NM_018847.4:c.156G>A NP_061335.1:p.Val52= NC_000009.12:21334703:C:T p.(Val52=) NC_000009.12:21334703:C:T p.(Val52=) NC_000009.12:21334703:C:T Identity +NM_001385907.1:c.1617C>T NP_001372836.1:p.Tyr539= NC_000009.12:32481354:G:A p.(Tyr539=) NC_000009.12:32481354:G:A p.(Tyr539=) NC_000009.12:32481354:G:A Identity +NM_001411087.1:c.1359G>A NP_001398016.1:p.Pro453= NC_000019.10:45037417:G:A p.(Pro453=) NC_000019.10:45037417:G:A p.(Pro453=) NC_000019.10:45037417:G:A Identity +NM_001142294.2:c.475C>T NP_001135766.1:p.Leu159= NC_000013.11:36335355:G:A p.(Leu159=) NC_000013.11:36335355:G:A p.(Leu159=) NC_000013.11:36335355:G:A Identity +NM_005245.4:c.7959C>T NP_005236.2:p.Gly2653= NC_000004.12:186618626:G:A p.(Gly2653=) NC_000004.12:186618626:G:A p.(Gly2653=) NC_000004.12:186618626:G:A Identity +NM_032520.5:c.861C>T NP_115909.1:p.Pro287= NC_000016.10:1363033:C:T p.(Pro287=) NC_000016.10:1363033:C:T p.(Pro287=) NC_000016.10:1363033:C:T Identity +NM_025081.3:c.3474G>T NP_079357.2:p.Leu1158= NC_000014.9:24415222:G:T p.(Leu1158=) NC_000014.9:24415222:G:T p.(Leu1158=) NC_000014.9:24415222:G:T Identity +NM_173500.4:c.3367C>A NP_775771.3:p.Arg1123= NC_000015.10:42746162:G:T p.(Arg1123=) NC_000015.10:42746162:G:T p.(Arg1123=) NC_000015.10:42746162:G:T Identity +NM_001080449.3:c.1269G>C NP_001073918.2:p.Leu423= NC_000010.11:68443062:C:G p.(Leu423=) NC_000010.11:68443062:C:G p.(Leu423=) NC_000010.11:68443062:C:G Identity +NM_019066.5:c.1116G>A NP_061939.3:p.Ser372= NC_000015.10:23646626:C:T p.(Ser372=) NC_000015.10:23646626:C:T p.(Ser372=) NC_000015.10:23646626:C:T Identity +NM_006739.4:c.771C>T NP_006730.2:p.Val257= NC_000022.11:35410761:C:T p.(Val257=) NC_000022.11:35410761:C:T p.(Val257=) NC_000022.11:35410761:C:T Identity +NM_001128431.4:c.447C>T NP_001121903.1:p.Ser149= NC_000008.11:22408485:C:T p.(Ser149=) NC_000008.11:22408485:C:T p.(Ser149=) NC_000008.11:22408485:C:T Identity +NM_024652.6:c.2613G>A NP_078928.3:p.Thr871= NC_000015.10:101027723:G:A p.(Thr871=) NC_000015.10:101027723:G:A p.(Thr871=) NC_000015.10:101027723:G:A Identity +NM_004501.3:c.1821A>G NP_004492.2:p.Lys607= NC_000001.11:244856490:T:C p.(Lys607=) NC_000001.11:244856490:T:C p.(Lys607=) NC_000001.11:244856490:T:C Identity +NM_033124.5:c.268C>A NP_149115.2:p.Arg90= NC_000012.12:48905080:C:A p.(Arg90=) NC_000012.12:48905080:C:A p.(Arg90=) NC_000012.12:48905080:C:A Identity +NM_000204.5:c.975A>C NP_000195.3:p.Leu325= NC_000004.12:109749567:T:G p.(Leu325=) NC_000004.12:109749567:T:G p.(Leu325=) NC_000004.12:109749567:T:G Identity +NM_005560.6:c.10416C>T NP_005551.3:p.Leu3472= NC_000020.11:62310694:G:A p.(Leu3472=) NC_000020.11:62310694:G:A p.(Leu3472=) NC_000020.11:62310694:G:A Identity +NM_001244580.2:c.7833C>T NP_001231509.1:p.Leu2611= NC_000007.14:98976162:C:T p.(Leu2611=) NC_000007.14:98976162:C:T p.(Leu2611=) NC_000007.14:98976162:C:T Identity +NM_014510.3:c.8985T>G NP_055325.2:p.Ser2995= NC_000007.14:82951967:A:C p.(Ser2995=) NC_000007.14:82951967:A:C p.(Ser2995=) NC_000007.14:82951967:A:C Identity +NM_001329939.2:c.1209C>T NP_001316868.1:p.Asn403= NC_000014.9:75959216:G:A p.(Asn403=) NC_000014.9:75959216:G:A p.(Asn403=) NC_000014.9:75959216:G:A Identity +NM_001321544.2:c.234C>T NP_001308473.1:p.Tyr78= NC_000019.10:19105580:C:T p.(Tyr78=) NC_000019.10:19105580:C:T p.(Tyr78=) NC_000019.10:19105580:C:T Identity +NM_001256213.2:c.1638C>G NP_001243142.1:p.Leu546= NC_000019.10:41978630:G:C p.(Leu546=) NC_000019.10:41978630:G:C p.(Leu546=) NC_000019.10:41978630:G:C Identity +NM_001286074.2:c.75C>T NP_001273003.2:p.Asn25= NC_000023.11:71366448:C:T p.(Asn25=) NC_000023.11:71366448:C:T p.(Asn25=) NC_000023.11:71366448:C:T Identity +NM_000428.3:c.3798T>C NP_000419.1:p.Tyr1266= NC_000014.9:74507287:A:G p.(Tyr1266=) NC_000014.9:74507287:A:G p.(Tyr1266=) NC_000014.9:74507287:A:G Identity +NM_001145527.2:c.1815C>T NP_001138999.1:p.Pro605= NC_000009.12:137776640:C:T p.(Pro605=) NC_000009.12:137776640:C:T p.(Pro605=) NC_000009.12:137776640:C:T Identity +NM_006059.4:c.1845C>T NP_006050.3:p.Asp615= NC_000009.12:131052870:C:T p.(Asp615=) NC_000009.12:131052870:C:T p.(Asp615=) NC_000009.12:131052870:C:T Identity +NM_001958.5:c.1008G>A NP_001949.1:p.Glu336= NC_000020.11:63490499:C:T p.(Glu336=) NC_000020.11:63490499:C:T p.(Glu336=) NC_000020.11:63490499:C:T Identity +NM_001291285.3:c.5688G>A NP_001278214.1:p.Gly1896= NC_000004.12:125408561:G:A p.(Gly1896=) NC_000004.12:125408561:G:A p.(Gly1896=) NC_000004.12:125408561:G:A Identity +NM_001317061.3:c.618G>A NP_001303990.1:p.Glu206= NC_000006.12:3105581:G:A p.(Glu206=) NC_000006.12:3105581:G:A p.(Glu206=) NC_000006.12:3105581:G:A Identity +NM_001369614.1:c.465T>C NP_001356543.1:p.Asp155= NC_000017.11:38738555:A:G p.(Asp155=) NC_000017.11:38738555:A:G p.(Asp155=) NC_000017.11:38738555:A:G Identity +NM_001958.5:c.318A>T NP_001949.1:p.Thr106= NC_000020.11:63495861:T:A p.(Thr106=) NC_000020.11:63495861:T:A p.(Thr106=) NC_000020.11:63495861:T:A Identity +NM_001005498.4:c.1803C>T NP_001005498.2:p.Cys601= NC_000017.11:76473257:G:A p.(Cys601=) NC_000017.11:76473257:G:A p.(Cys601=) NC_000017.11:76473257:G:A Identity +NM_006734.4:c.1071T>C NP_006725.3:p.Thr357= NC_000006.12:142773667:A:G p.(Thr357=) NC_000006.12:142773667:A:G p.(Thr357=) NC_000006.12:142773667:A:G Identity +NM_001317195.3:c.741C>T NP_001304124.1:p.Tyr247= NC_000016.10:68679847:C:T p.(Tyr247=) NC_000016.10:68679847:C:T p.(Tyr247=) NC_000016.10:68679847:C:T Identity +NM_173086.5:c.1092G>A NP_775109.2:p.Gln364= NC_000012.12:52470615:C:T p.(Gln364=) NC_000012.12:52470615:C:T p.(Gln364=) NC_000012.12:52470615:C:T Identity +NM_032193.4:c.249G>A NP_115569.2:p.Val83= NC_000011.10:65720340:C:T p.(Val83=) NC_000011.10:65720340:C:T p.(Val83=) NC_000011.10:65720340:C:T Identity +NM_001362884.2:c.981G>A NP_001349813.1:p.Ala327= NC_000008.11:20252949:C:T p.(Ala327=) NC_000008.11:20252949:C:T p.(Ala327=) NC_000008.11:20252949:C:T Identity +NM_001318245.2:c.4725G>A NP_001305174.1:p.Leu1575= NC_000022.11:25898359:G:A p.(Leu1575=) NC_000022.11:25898359:G:A p.(Leu1575=) NC_000022.11:25898359:G:A Identity +NM_001375567.1:c.2157A>G NP_001362496.1:p.Ala719= NC_000009.12:20866978:A:G p.(Ala719=) NC_000009.12:20866978:A:G p.(Ala719=) NC_000009.12:20866978:A:G Identity +NM_080473.5:c.450G>A NP_536721.1:p.Val150= NC_000020.11:62475071:C:T p.(Val150=) NC_000020.11:62475071:C:T p.(Val150=) NC_000020.11:62475071:C:T Identity +NM_207361.6:c.168G>T NP_997244.4:p.Leu56= NC_000013.11:38687511:G:T p.(Leu56=) NC_000013.11:38687511:G:T p.(Leu56=) NC_000013.11:38687511:G:T Identity +NM_005619.5:c.1632C>T NP_005610.1:p.Ala544= NC_000019.10:45485713:G:A p.(Ala544=) NC_000019.10:45485713:G:A p.(Ala544=) NC_000019.10:45485713:G:A Identity +NM_001291411.2:c.2949A>G NP_001278340.2:p.Pro983= NC_000021.9:33552179:A:G p.(Pro983=) NC_000021.9:33552179:A:G p.(Pro983=) NC_000021.9:33552179:A:G Identity +NM_001719.3:c.273G>T NP_001710.1:p.Ala91= NC_000020.11:57265849:C:A p.(Ala91=) NC_000020.11:57265849:C:A p.(Ala91=) NC_000020.11:57265849:C:A Identity +NM_001289395.2:c.468C>T NP_001276324.1:p.Pro156= NC_000006.12:35509724:G:A p.(Pro156=) NC_000006.12:35509724:G:A p.(Pro156=) NC_000006.12:35509724:G:A Identity +NM_001201459.2:c.1047A>G NP_001188388.1:p.Thr349= NC_000002.12:27377937:T:C p.(Thr349=) NC_000002.12:27377937:T:C p.(Thr349=) NC_000002.12:27377937:T:C Identity +NM_005996.4:c.1069GCCGAG[1] NP_005987.3:p.357AE[1] NC_000012.12:114674794:CTCGGCCTCGGC:CTCGGC p.(Ala359_Glu360del) NC_000012.12:114674805:C:CTCGGC ERR:Parse ERR:Parse Analogous +NM_001374299.1:c.3453A>G NP_001361228.1:p.Leu1151= NC_000009.12:92223370:T:C p.(Leu1151=) NC_000009.12:92223370:T:C p.(Leu1151=) NC_000009.12:92223370:T:C Identity +NM_001382361.1:c.1377C>T NP_001369290.1:p.Asp459= NC_000011.10:64220500:C:T p.(Asp459=) NC_000011.10:64220500:C:T p.(Asp459=) NC_000011.10:64220500:C:T Identity +NM_001033053.3:c.3616C>T NP_001028225.1:p.Leu1206= NC_000017.11:5521702:G:A p.(Leu1206=) NC_000017.11:5521702:G:A p.(Leu1206=) NC_000017.11:5521702:G:A Identity +NM_001310332.2:c.642A>C NP_001297261.1:p.Ala214= NC_000014.9:24150345:A:C p.(Ala214=) NC_000014.9:24150345:A:C p.(Ala214=) NC_000014.9:24150345:A:C Identity +NM_001100913.3:c.1119G>A NP_001094383.2:p.Val373= NC_000014.9:105380147:G:A p.(Val373=) NC_000014.9:105380147:G:A p.(Val373=) NC_000014.9:105380147:G:A Identity +NM_001042681.2:c.4071G>A NP_001036146.1:p.Pro1357= NC_000001.11:8358463:C:T p.(Pro1357=) NC_000001.11:8358463:C:T p.(Pro1357=) NC_000001.11:8358463:C:T Identity +NM_001379141.1:c.4563C>A NP_001366070.1:p.Pro1521= NC_000018.10:45063469:C:A p.(Pro1521=) NC_000018.10:45063469:C:A p.(Pro1521=) NC_000018.10:45063469:C:A Identity +NM_004752.4:c.135T>C NP_004743.1:p.Tyr45= NC_000006.12:10877347:A:G p.(Tyr45=) NC_000006.12:10877347:A:G p.(Tyr45=) NC_000006.12:10877347:A:G Identity +NM_001308006.2:c.585G>T NP_001294935.1:p.Val195= NC_000018.10:49581427:G:T p.(Val195=) NC_000018.10:49581427:G:T p.(Val195=) NC_000018.10:49581427:G:T Identity +NM_001165979.2:c.2040C>T NP_001159451.1:p.Phe680= NC_000010.11:94246488:C:T p.(Phe680=) NC_000010.11:94246488:C:T p.(Phe680=) NC_000010.11:94246488:C:T Identity +NM_001244710.2:c.1746T>C NP_001231639.1:p.Tyr582= NC_000002.12:69328417:A:G p.(Tyr582=) NC_000002.12:69328417:A:G p.(Tyr582=) NC_000002.12:69328417:A:G Identity +NM_000050.4:c.504G>T NP_000041.2:p.Gly168= NC_000009.12:130470841:G:T p.(Gly168=) NC_000009.12:130470841:G:T p.(Gly168=) NC_000009.12:130470841:G:T Identity +NM_001039550.2:c.15C>T NP_001034639.1:p.Tyr5= NC_000002.12:219279847:C:T p.(Tyr5=) NC_000002.12:219279847:C:T p.(Tyr5=) NC_000002.12:219279847:C:T Identity +NM_001374385.1:c.2976C>T NP_001361314.1:p.Tyr992= NC_000018.10:57654030:G:A p.(Tyr992=) NC_000018.10:57654030:G:A p.(Tyr992=) NC_000018.10:57654030:G:A Identity +NM_002381.5:c.687C>G NP_002372.1:p.Ser229= NC_000002.12:20005846:G:C p.(Ser229=) NC_000002.12:20005846:G:C p.(Ser229=) NC_000002.12:20005846:G:C Identity +NM_002291.3:c.918C>T NP_002282.2:p.Gly306= NC_000007.14:107978128:G:A p.(Gly306=) NC_000007.14:107978128:G:A p.(Gly306=) NC_000007.14:107978128:G:A Identity +NM_001384401.1:c.75G>A NP_001371330.1:p.Gln25= NC_000019.10:17762808:G:A p.(Gln25=) NC_000019.10:17762808:G:A p.(Gln25=) NC_000019.10:17762808:G:A Identity +NM_001244580.2:c.11238C>A NP_001231509.1:p.Gly3746= NC_000007.14:99011477:C:A p.(Gly3746=) NC_000007.14:99011477:C:A p.(Gly3746=) NC_000007.14:99011477:C:A Identity +NM_001127493.3:c.3957C>T NP_001120965.1:p.Ala1319= NC_000004.12:113341777:C:T p.(Ala1319=) NC_000004.12:113341777:C:T p.(Ala1319=) NC_000004.12:113341777:C:T Identity +NM_001291411.2:c.4404G>A NP_001278340.2:p.Glu1468= NC_000021.9:33553634:G:A p.(Glu1468=) NC_000021.9:33553634:G:A p.(Glu1468=) NC_000021.9:33553634:G:A Identity +NM_001424108.1:c.3357T>C NP_001411037.1:p.Pro1119= NC_000006.12:33170370:A:G p.(Pro1119=) NC_000006.12:33170370:A:G p.(Pro1119=) NC_000006.12:33170370:A:G Identity +NM_001195573.1:c.396T>G NP_001182502.1:p.Ser132= NC_000014.9:95131550:A:C p.(Ser132=) NC_000014.9:95131550:A:C p.(Ser132=) NC_000014.9:95131550:A:C Identity +NM_000260.4:c.3693G>A NP_000251.3:p.Leu1231= NC_000011.10:77190081:G:A p.(Leu1231=) NC_000011.10:77190081:G:A p.(Leu1231=) NC_000011.10:77190081:G:A Identity +NM_001143779.2:c.1929A>G NP_001137251.1:p.Glu643= NC_000012.12:110218123:A:G p.(Glu643=) NC_000012.12:110218123:A:G p.(Glu643=) NC_000012.12:110218123:A:G Identity +NM_001363711.2:c.1734C>T NP_001350640.1:p.Gly578= NC_000015.10:45106928:G:A p.(Gly578=) NC_000015.10:45106928:G:A p.(Gly578=) NC_000015.10:45106928:G:A Identity +NM_006662.3:c.5283C>T NP_006653.2:p.Gly1761= NC_000016.10:30724706:C:T p.(Gly1761=) NC_000016.10:30724706:C:T p.(Gly1761=) NC_000016.10:30724706:C:T Identity +NM_001012509.4:c.525C>T NP_001012527.2:p.Asp175= NC_000005.10:33982272:G:A p.(Asp175=) NC_000005.10:33982272:G:A p.(Asp175=) NC_000005.10:33982272:G:A Identity +NM_025074.7:c.8436G>A NP_079350.5:p.Glu2812= NC_000004.12:78479710:G:A p.(Glu2812=) NC_000004.12:78479710:G:A p.(Glu2812=) NC_000004.12:78479710:G:A Identity +NM_000548.5:c.3990G>C NP_000539.2:p.Thr1330= NC_000016.10:2083800:G:C p.(Thr1330=) NC_000016.10:2083800:G:C p.(Thr1330=) NC_000016.10:2083800:G:C Identity +NM_014727.3:c.4974C>T NP_055542.1:p.Cys1658= NC_000019.10:35730022:C:T p.(Cys1658=) NC_000019.10:35730022:C:T p.(Cys1658=) NC_000019.10:35730022:C:T Identity +NM_000785.4:c.600G>C NP_000776.1:p.Ala200= NC_000012.12:57765200:C:G p.(Ala200=) NC_000012.12:57765200:C:G p.(Ala200=) NC_000012.12:57765200:C:G Identity +NM_003482.4:c.2958A>G NP_003473.3:p.Pro986= NC_000012.12:49050629:T:C p.(Pro986=) NC_000012.12:49050629:T:C p.(Pro986=) NC_000012.12:49050629:T:C Identity +NM_001195573.1:c.2661C>T NP_001182502.1:p.Ser887= NC_000014.9:95107750:G:A p.(Ser887=) NC_000014.9:95107750:G:A p.(Ser887=) NC_000014.9:95107750:G:A Identity +NM_001400328.1:c.69G>T NP_001387257.1:p.Pro23= NC_000003.12:128052877:G:T p.(Pro23=) NC_000003.12:128052877:G:T p.(Pro23=) NC_000003.12:128052877:G:T Identity +NM_001166055.2:c.342C>A NP_001159527.1:p.Gly114= NC_000004.12:147486022:C:A p.(Gly114=) NC_000004.12:147486022:C:A p.(Gly114=) NC_000004.12:147486022:C:A Identity +NM_001282656.2:c.69G>A NP_001269585.1:p.Ala23= NC_000011.10:9471376:G:A p.(Ala23=) NC_000011.10:9471376:G:A p.(Ala23=) NC_000011.10:9471376:G:A Identity +NM_000350.3:c.2913C>G NP_000341.2:p.Thr971= NC_000001.11:94046923:G:C p.(Thr971=) NC_000001.11:94046923:G:C p.(Thr971=) NC_000001.11:94046923:G:C Identity +NM_001195573.1:c.2601T>C NP_001182502.1:p.Phe867= NC_000014.9:95107928:A:G p.(Phe867=) NC_000014.9:95107928:A:G p.(Phe867=) NC_000014.9:95107928:A:G Identity +NM_001286577.2:c.3024C>A NP_001273506.1:p.Ile1008= NC_000011.10:74095363:G:T p.(Ile1008=) NC_000011.10:74095363:G:T p.(Ile1008=) NC_000011.10:74095363:G:T Identity +NM_001377498.1:c.798C>T NP_001364427.1:p.Thr266= NC_000002.12:219077272:G:A p.(Thr266=) NC_000002.12:219077272:G:A p.(Thr266=) NC_000002.12:219077272:G:A Identity +NM_001130455.2:c.4918C>T NP_001123927.1:p.Leu1640= NC_000002.12:71664295:C:T p.(Leu1640=) NC_000002.12:71664295:C:T p.(Leu1640=) NC_000002.12:71664295:C:T Identity +NM_001408497.1:c.858T>C NP_001395426.1:p.Phe286= NC_000017.11:43076540:A:G p.(Phe286=) NC_000017.11:43076540:A:G p.(Phe286=) NC_000017.11:43076540:A:G Identity +NM_000064.4:c.3834C>T NP_000055.2:p.Ala1278= NC_000019.10:6685122:G:A p.(Ala1278=) NC_000019.10:6685122:G:A p.(Ala1278=) NC_000019.10:6685122:G:A Identity +NM_000109.4:c.8649G>T NP_000100.3:p.Leu2883= NC_000023.11:31478369:C:A p.(Leu2883=) NC_000023.11:31478369:C:A p.(Leu2883=) NC_000023.11:31478369:C:A Identity +NM_001306079.2:c.6141C>T NP_001293008.1:p.Arg2047= NC_000002.12:27242726:C:T p.(Arg2047=) NC_000002.12:27242726:C:T p.(Arg2047=) NC_000002.12:27242726:C:T Identity +NM_182493.3:c.804C>G NP_872299.2:p.Pro268= NC_000016.10:46737907:G:C p.(Pro268=) NC_000016.10:46737907:G:C p.(Pro268=) NC_000016.10:46737907:G:C Identity +NM_001080517.3:c.2715A>C NP_001073986.1:p.Leu905= NC_000003.12:9464662:A:C p.(Leu905=) NC_000003.12:9464662:A:C p.(Leu905=) NC_000003.12:9464662:A:C Identity +NM_001042702.5:c.234G>A NP_001036167.1:p.Leu78= NC_000002.12:178454353:G:A p.(Leu78=) NC_000002.12:178454353:G:A p.(Leu78=) NC_000002.12:178454353:G:A Identity +NM_025074.7:c.10908T>A NP_079350.5:p.Thr3636= NC_000004.12:78526639:T:A p.(Thr3636=) NC_000004.12:78526639:T:A p.(Thr3636=) NC_000004.12:78526639:T:A Identity +NM_000163.5:c.42A>T NP_000154.1:p.Gly14= NC_000005.10:42565915:A:T p.(Gly14=) NC_000005.10:42565915:A:T p.(Gly14=) NC_000005.10:42565915:A:T Identity +NM_207361.6:c.3396C>A NP_997244.4:p.Ala1132= NC_000013.11:38690739:C:A p.(Ala1132=) NC_000013.11:38690739:C:A p.(Ala1132=) NC_000013.11:38690739:C:A Identity +NM_001271282.3:c.5760C>T NP_001258211.1:p.Pro1920= NC_000014.9:95090506:G:A p.(Pro1920=) NC_000014.9:95090506:G:A p.(Pro1920=) NC_000014.9:95090506:G:A Identity +NM_002838.5:c.375G>A NP_002829.3:p.Gln125= NC_000001.11:198699639:G:A p.(Gln125=) NC_000001.11:198699639:G:A p.(Gln125=) NC_000001.11:198699639:G:A Identity +NM_001306079.2:c.756C>T NP_001293008.1:p.Cys252= NC_000002.12:27222983:C:T p.(Cys252=) NC_000002.12:27222983:C:T p.(Cys252=) NC_000002.12:27222983:C:T Identity +NM_001367624.2:c.7509G>T NP_001354553.1:p.Ala2503= NC_000016.10:88434978:G:T p.(Ala2503=) NC_000016.10:88434978:G:T p.(Ala2503=) NC_000016.10:88434978:G:T Identity +NM_005502.4:c.1545A>G NP_005493.2:p.Thr515= NC_000009.12:104831791:T:C p.(Thr515=) NC_000009.12:104831791:T:C p.(Thr515=) NC_000009.12:104831791:T:C Identity +NM_001424108.1:c.4470G>C NP_001411037.1:p.Leu1490= NC_000006.12:33165648:C:G p.(Leu1490=) NC_000006.12:33165648:C:G p.(Leu1490=) NC_000006.12:33165648:C:G Identity +NM_002838.5:c.1239T>C NP_002829.3:p.Asn413= NC_000001.11:198713019:T:C p.(Asn413=) NC_000001.11:198713019:T:C p.(Asn413=) NC_000001.11:198713019:T:C Identity +NM_001367624.2:c.294G>A NP_001354553.1:p.Gly98= NC_000016.10:88427763:G:A p.(Gly98=) NC_000016.10:88427763:G:A p.(Gly98=) NC_000016.10:88427763:G:A Identity +NM_001301012.2:c.1572A>G NP_001287941.1:p.Lys524= NC_000006.12:133523172:A:G p.(Lys524=) NC_000006.12:133523172:A:G p.(Lys524=) NC_000006.12:133523172:A:G Identity +NM_001170794.2:c.2212T>C NP_001164265.1:p.Leu738= NC_000006.12:89932721:A:G p.(Leu738=) NC_000006.12:89932721:A:G p.(Leu738=) NC_000006.12:89932721:A:G Identity +NM_001318219.1:c.4167A>C NP_001305148.1:p.Ile1389= NC_000020.11:35504431:A:C p.(Ile1389=) NC_000020.11:35504431:A:C p.(Ile1389=) NC_000020.11:35504431:A:C Identity +NM_001256468.2:c.763T>C NP_001243397.1:p.Leu255= NC_000010.11:74969691:T:C p.(Leu255=) NC_000010.11:74969691:T:C p.(Leu255=) NC_000010.11:74969691:T:C Identity +NM_000059.4:c.8535A>G NP_000050.3:p.Arg2845= NC_000013.11:32371002:A:G p.(Arg2845=) NC_000013.11:32371002:A:G p.(Arg2845=) NC_000013.11:32371002:A:G Identity +NM_001318360.2:c.702T>C NP_001305289.1:p.Ser234= NC_000009.12:108912408:A:G p.(Ser234=) NC_000009.12:108912408:A:G p.(Ser234=) NC_000009.12:108912408:A:G Identity +NM_021961.6:c.627C>T NP_068780.2:p.Arg209= NC_000011.10:12883052:C:T p.(Arg209=) NC_000011.10:12883052:C:T p.(Arg209=) NC_000011.10:12883052:C:T Identity +NM_001174116.3:c.5868T>C NP_001167587.1:p.Thr1956= NC_000015.10:51481237:A:G p.(Thr1956=) NC_000015.10:51481237:A:G p.(Thr1956=) NC_000015.10:51481237:A:G Identity +NM_001030311.3:c.747A>G NP_001025482.1:p.Leu249= NC_000002.12:181565440:T:C p.(Leu249=) NC_000002.12:181565440:T:C p.(Leu249=) NC_000002.12:181565440:T:C Identity +NM_003922.4:c.2838G>A NP_003913.3:p.Lys946= NC_000015.10:63732953:C:T p.(Lys946=) NC_000015.10:63732953:C:T p.(Lys946=) NC_000015.10:63732953:C:T Identity +NM_001077494.3:c.2702G>C NP_001070962.1:p.Ter901Ser NC_000010.11:102402374:G:C p.(Ter901SerextTer24) NC_000010.11:102402374:G:C p.(Ter901SerextTer24) NC_000010.11:102402374:G:C Analogous +NM_000548.5:c.2322C>A NP_000539.2:p.Ile774= NC_000016.10:2072949:C:A p.(Ile774=) NC_000016.10:2072949:C:A p.(Ile774=) NC_000016.10:2072949:C:A Identity +NM_001410842.1:c.1851A>G NP_001397771.1:p.Lys617= NC_000004.12:139370307:A:G p.(Lys617=) NC_000004.12:139370307:A:G p.(Lys617=) NC_000004.12:139370307:A:G Identity +NM_001178129.2:c.639T>C NP_001171600.1:p.Asp213= NC_000007.14:83406053:A:G p.(Asp213=) NC_000007.14:83406053:A:G p.(Asp213=) NC_000007.14:83406053:A:G Identity +NM_001198842.2:c.816T>C NP_001185771.1:p.Gly272= NC_000012.12:69593587:T:C p.(Gly272=) NC_000012.12:69593587:T:C p.(Gly272=) NC_000012.12:69593587:T:C Identity +NM_004048.4:c.261C>T NP_004039.1:p.Tyr87= NC_000015.10:44715615:C:T p.(Tyr87=) NC_000015.10:44715615:C:T p.(Tyr87=) NC_000015.10:44715615:C:T Identity +NM_001164317.2:c.2397T>C NP_001157789.1:p.Ile799= NC_000003.12:58110082:T:C p.(Ile799=) NC_000003.12:58110082:T:C p.(Ile799=) NC_000003.12:58110082:T:C Identity +NM_015378.4:c.5991G>A NP_056193.2:p.Gln1997= NC_000001.11:12293661:G:A p.(Gln1997=) NC_000001.11:12293661:G:A p.(Gln1997=) NC_000001.11:12293661:G:A Identity +NM_001320923.2:c.2727T>C NP_001307852.1:p.Ser909= NC_000001.11:64839717:A:G p.(Ser909=) NC_000001.11:64839717:A:G p.(Ser909=) NC_000001.11:64839717:A:G Identity +NM_006231.4:c.6373C>T NP_006222.2:p.Leu2125= NC_000012.12:132626274:G:A p.(Leu2125=) NC_000012.12:132626274:G:A p.(Leu2125=) NC_000012.12:132626274:G:A Identity +NM_000038.6:c.7776G>T NP_000029.2:p.Val2592= NC_000005.10:112843369:G:T p.(Val2592=) NC_000005.10:112843369:G:T p.(Val2592=) NC_000005.10:112843369:G:T Identity +NM_000038.6:c.7227A>T NP_000029.2:p.Gly2409= NC_000005.10:112842820:A:T p.(Gly2409=) NC_000005.10:112842820:A:T p.(Gly2409=) NC_000005.10:112842820:A:T Identity +NM_170606.3:c.10953G>A NP_733751.2:p.Glu3651= NC_000007.14:152162623:C:T p.(Glu3651=) NC_000007.14:152162623:C:T p.(Glu3651=) NC_000007.14:152162623:C:T Identity +NM_001111125.3:c.2784C>T NP_001104595.1:p.Leu928= NC_000023.11:53243436:G:A p.(Leu928=) NC_000023.11:53243436:G:A p.(Leu928=) NC_000023.11:53243436:G:A Identity +NM_052844.4:c.192T>C NP_443076.2:p.Ser64= NC_000009.12:128640933:A:G p.(Ser64=) NC_000009.12:128640933:A:G p.(Ser64=) NC_000009.12:128640933:A:G Identity +NM_020699.4:c.1107C>T NP_065750.1:p.Pro369= NC_000001.11:153816381:G:A p.(Pro369=) NC_000001.11:153816381:G:A p.(Pro369=) NC_000001.11:153816381:G:A Identity +NM_001013838.3:c.2295T>C NP_001013860.1:p.Asn765= NC_000016.10:67651296:T:C p.(Asn765=) NC_000016.10:67651296:T:C p.(Asn765=) NC_000016.10:67651296:T:C Identity +NM_001079.4:c.696C>G NP_001070.2:p.Leu232= NC_000002.12:97733014:C:G p.(Leu232=) NC_000002.12:97733014:C:G p.(Leu232=) NC_000002.12:97733014:C:G Identity +NM_201550.4:c.717A>G NP_963844.2:p.Arg239= NC_000012.12:69610121:T:C p.(Arg239=) NC_000012.12:69610121:T:C p.(Arg239=) NC_000012.12:69610121:T:C Identity +NM_030582.4:c.432C>A NP_085059.2:p.Val144= NC_000021.9:45455961:C:A p.(Val144=) NC_000021.9:45455961:C:A p.(Val144=) NC_000021.9:45455961:C:A Identity +NM_001326607.2:c.48C>G NP_001313536.1:p.Leu16= NC_000007.14:6009410:C:G p.(Leu16=) NC_000007.14:6009410:C:G p.(Leu16=) NC_000007.14:6009410:C:G Identity +NM_000393.5:c.4008T>C NP_000384.2:p.Cys1336= NC_000002.12:189036720:A:G p.(Cys1336=) NC_000002.12:189036720:A:G p.(Cys1336=) NC_000002.12:189036720:A:G Identity +NM_022726.4:c.375T>G NP_073563.1:p.Ala125= NC_000006.12:79921790:A:C p.(Ala125=) NC_000006.12:79921790:A:C p.(Ala125=) NC_000006.12:79921790:A:C Identity +NM_001135597.2:c.4263C>T NP_001129069.1:p.Pro1421= NC_000002.12:55308929:G:A p.(Pro1421=) NC_000002.12:55308929:G:A p.(Pro1421=) NC_000002.12:55308929:G:A Identity +NM_017633.3:c.198G>C NP_060103.2:p.Leu66= NC_000006.12:81751943:C:G p.(Leu66=) NC_000006.12:81751943:C:G p.(Leu66=) NC_000006.12:81751943:C:G Identity +NM_000252.3:c.687A>G NP_000243.1:p.Ser229= NC_000023.11:150645690:A:G p.(Ser229=) NC_000023.11:150645690:A:G p.(Ser229=) NC_000023.11:150645690:A:G Identity +NM_001350912.2:c.15C>T NP_001337841.1:p.Arg5= NC_000012.12:21445408:C:T p.(Arg5=) NC_000012.12:21445408:C:T p.(Arg5=) NC_000012.12:21445408:C:T Identity +NM_001354263.2:c.3169_3171dup NP_001341192.1:p.Cys1057_Ile1058insCys NC_000009.12:137814439:TGC:TGCTGC p.(Cys1057dup) NC_000009.12:137814439:TGC:TGCTGC p.(Cys1057dup) ERR:SPDI Analogous +NM_001190799.2:c.1707A>C NP_001177728.1:p.Pro569= NC_000004.12:127890208:A:C p.(Pro569=) NC_000004.12:127890208:A:C p.(Pro569=) NC_000004.12:127890208:A:C Identity +NM_001039590.3:c.4572T>C NP_001034679.2:p.Thr1524= NC_000023.11:41198718:T:C p.(Thr1524=) NC_000023.11:41198718:T:C p.(Thr1524=) NC_000023.11:41198718:T:C Identity +NM_014510.3:c.6465G>A NP_055325.2:p.Glu2155= NC_000007.14:82954487:C:T p.(Glu2155=) NC_000007.14:82954487:C:T p.(Glu2155=) NC_000007.14:82954487:C:T Identity +NM_001301012.2:c.1539T>G NP_001287941.1:p.Ala513= NC_000006.12:133523139:T:G p.(Ala513=) NC_000006.12:133523139:T:G p.(Ala513=) NC_000006.12:133523139:T:G Identity +NM_001127325.2:c.213C>G NP_001120797.1:p.Val71= NC_000001.11:11677560:G:C p.(Val71=) NC_000001.11:11677560:G:C p.(Val71=) NC_000001.11:11677560:G:C Identity +NM_001321378.2:c.3114A>G NP_001308307.1:p.Gly1038= NC_000011.10:17117592:T:C p.(Gly1038=) NC_000011.10:17117592:T:C p.(Gly1038=) NC_000011.10:17117592:T:C Identity +NM_001387438.1:c.711G>A NP_001374367.1:p.Leu237= NC_000019.10:18869004:C:T p.(Leu237=) NC_000019.10:18869004:C:T p.(Leu237=) NC_000019.10:18869004:C:T Identity +NM_001737.5:c.1092A>G NP_001728.1:p.Lys364= NC_000005.10:39311155:T:C p.(Lys364=) NC_000005.10:39311155:T:C p.(Lys364=) NC_000005.10:39311155:T:C Identity +NM_003737.4:c.2652G>A NP_003728.1:p.Leu884= NC_000011.10:6632859:C:T p.(Leu884=) NC_000011.10:6632859:C:T p.(Leu884=) NC_000011.10:6632859:C:T Identity +NM_001037333.3:c.2196T>C NP_001032410.1:p.Asn732= NC_000005.10:157330780:T:C p.(Asn732=) NC_000005.10:157330780:T:C p.(Asn732=) NC_000005.10:157330780:T:C Identity +NM_001174116.3:c.8148T>A NP_001167587.1:p.Val2716= NC_000015.10:51457453:A:T p.(Val2716=) NC_000015.10:51457453:A:T p.(Val2716=) NC_000015.10:51457453:A:T Identity +NM_001168298.2:c.507C>A NP_001161770.1:p.Ile169= NC_000002.12:218135307:C:A p.(Ile169=) NC_000002.12:218135307:C:A p.(Ile169=) NC_000002.12:218135307:C:A Identity +NM_001276270.2:c.75C>G NP_001263199.1:p.Arg25= NC_000003.12:129439758:G:C p.(Arg25=) NC_000003.12:129439758:G:C p.(Arg25=) NC_000003.12:129439758:G:C Identity +NM_001290020.2:c.2937G>A NP_001276949.1:p.Val979= NC_000010.11:27860708:C:T p.(Val979=) NC_000010.11:27860708:C:T p.(Val979=) NC_000010.11:27860708:C:T Identity +NM_001378289.1:c.633C>G NP_001365218.1:p.Arg211= NC_000003.12:149960947:C:G p.(Arg211=) NC_000003.12:149960947:C:G p.(Arg211=) NC_000003.12:149960947:C:G Identity +NM_001379141.1:c.1278G>C NP_001366070.1:p.Ala426= NC_000018.10:44950617:G:C p.(Ala426=) NC_000018.10:44950617:G:C p.(Ala426=) NC_000018.10:44950617:G:C Identity +NM_000276.4:c.2704_2705del NP_000267.2:p.Ter902ArgextTer? NC_000023.11:129590267:TA: p.(Ter902ArgfsTer93) NC_000023.11:129590267:TA: p.(Ter902ArgextTer92) NC_000023.11:129590267:TA: Different +NM_001281463.1:c.2385G>A NP_001268392.1:p.Leu795= NC_000023.11:53399699:C:T p.(Leu795=) NC_000023.11:53399699:C:T p.(Leu795=) NC_000023.11:53399699:C:T Identity +NM_001853.4:c.210G>C NP_001844.3:p.Pro70= NC_000020.11:62819247:G:C p.(Pro70=) NC_000020.11:62819247:G:C p.(Pro70=) NC_000020.11:62819247:G:C Identity +NM_006231.4:c.1863C>A NP_006222.2:p.Leu621= NC_000012.12:132668870:G:T p.(Leu621=) NC_000012.12:132668870:G:T p.(Leu621=) NC_000012.12:132668870:G:T Identity +NM_001293306.2:c.1755G>C NP_001280235.2:p.Ser585= NC_000003.12:38752218:C:G p.(Ser585=) NC_000003.12:38752218:C:G p.(Ser585=) NC_000003.12:38752218:C:G Identity +NM_001311198.2:c.501T>C NP_001298127.1:p.His167= NC_000003.12:184180646:T:C p.(His167=) NC_000003.12:184180646:T:C p.(His167=) NC_000003.12:184180646:T:C Identity +NM_014762.4:c.273C>T NP_055577.1:p.Cys91= NC_000001.11:54883731:G:A p.(Cys91=) NC_000001.11:54883731:G:A p.(Cys91=) NC_000001.11:54883731:G:A Identity +NM_001193416.3:c.1242C>T NP_001180345.1:p.Asn414= NC_000023.11:41345474:C:T p.(Asn414=) NC_000023.11:41345474:C:T p.(Asn414=) NC_000023.11:41345474:C:T Identity +NM_001363823.2:c.1512T>C NP_001350752.1:p.Tyr504= NC_000002.12:32141924:T:C p.(Tyr504=) NC_000002.12:32141924:T:C p.(Tyr504=) NC_000002.12:32141924:T:C Identity +NM_001844.5:c.1860G>A NP_001835.3:p.Lys620= NC_000012.12:47984572:C:T p.(Lys620=) NC_000012.12:47984572:C:T p.(Lys620=) NC_000012.12:47984572:C:T Identity +NM_001184976.2:c.3018C>G NP_001171905.1:p.Leu1006= NC_000012.12:54537037:C:G p.(Leu1006=) NC_000012.12:54537037:C:G p.(Leu1006=) NC_000012.12:54537037:C:G Identity +NM_020436.5:c.1665G>A NP_065169.1:p.Val555= NC_000020.11:51790817:C:T p.(Val555=) NC_000020.11:51790817:C:T p.(Val555=) NC_000020.11:51790817:C:T Identity +NM_020949.3:c.2304_2312del NP_066000.2:p.Tyr768_Glu771delinsTer NC_000003.12:170467058:TCTGGAGAGT:T p.(Tyr768Ter) NC_000003.12:170467058:TCTGGAGAGT:T p.(Tyr768Ter) NC_000003.12:170467058:TCTGGAGAG: Analogous +NM_032130.3:c.384C>T NP_115506.1:p.Asp128= NC_000012.12:49603305:G:A p.(Asp128=) NC_000012.12:49603305:G:A p.(Asp128=) NC_000012.12:49603305:G:A Identity +NM_001164281.3:c.1584C>T NP_001157753.1:p.Val528= NC_000006.12:111559515:G:A p.(Val528=) NC_000006.12:111559515:G:A p.(Val528=) NC_000006.12:111559515:G:A Identity +NM_001355216.2:c.1005C>T NP_001342145.1:p.Ser335= NC_000010.11:43113562:C:T p.(Ser335=) NC_000010.11:43113562:C:T p.(Ser335=) NC_000010.11:43113562:C:T Identity +NM_001386500.1:c.5847C>G NP_001373429.1:p.Pro1949= NC_000001.11:11128516:G:C p.(Pro1949=) NC_000001.11:11128516:G:C p.(Pro1949=) NC_000001.11:11128516:G:C Identity +NM_001130916.3:c.777A>C NP_001124388.1:p.Ser259= NC_000009.12:99144765:A:C p.(Ser259=) NC_000009.12:99144765:A:C p.(Ser259=) NC_000009.12:99144765:A:C Identity +NM_001135597.2:c.3378A>G NP_001129069.1:p.Gln1126= NC_000002.12:55317784:T:C p.(Gln1126=) NC_000002.12:55317784:T:C p.(Gln1126=) NC_000002.12:55317784:T:C Identity +NM_005220.3:c.228C>T NP_005211.1:p.Gly76= NC_000017.11:49994770:G:A p.(Gly76=) NC_000017.11:49994770:G:A p.(Gly76=) NC_000017.11:49994770:G:A Identity +NM_001303496.3:c.1225C>T NP_001290425.1:p.Leu409= NC_000007.14:93134746:G:A p.(Leu409=) NC_000007.14:93134746:G:A p.(Leu409=) NC_000007.14:93134746:G:A Identity +NM_001291415.2:c.2118T>C NP_001278344.1:p.Pro706= NC_000023.11:45069616:T:C p.(Pro706=) NC_000023.11:45069616:T:C p.(Pro706=) NC_000023.11:45069616:T:C Identity +NM_001376.5:c.3957G>A NP_001367.2:p.Val1319= NC_000014.9:102000140:G:A p.(Val1319=) NC_000014.9:102000140:G:A p.(Val1319=) NC_000014.9:102000140:G:A Identity +NM_001129827.2:c.4512C>T NP_001123299.1:p.Phe1504= NC_000012.12:2664959:C:T p.(Phe1504=) NC_000012.12:2664959:C:T p.(Phe1504=) NC_000012.12:2664959:C:T Identity +NM_001440.4:c.783T>C NP_001431.1:p.Tyr261= NC_000008.11:28716841:T:C p.(Tyr261=) NC_000008.11:28716841:T:C p.(Tyr261=) NC_000008.11:28716841:T:C Identity +NM_001270523.2:c.57T>G NP_001257452.1:p.Thr19= NC_000014.9:56805399:A:C p.(Thr19=) NC_000014.9:56805399:A:C p.(Thr19=) NC_000014.9:56805399:A:C Identity +NM_001282368.2:c.111T>C NP_001269297.1:p.Asp37= NC_000006.12:76034743:A:G p.(Asp37=) NC_000006.12:76034743:A:G p.(Asp37=) NC_000006.12:76034743:A:G Identity +NM_001042544.1:c.2691T>C NP_001036009.1:p.Thr897= NC_000019.10:40613461:T:C p.(Thr897=) NC_000019.10:40613461:T:C p.(Thr897=) NC_000019.10:40613461:T:C Identity +NM_001303110.2:c.555C>A NP_001290039.1:p.Gly185= NC_000013.11:110210039:G:T p.(Gly185=) NC_000013.11:110210039:G:T p.(Gly185=) NC_000013.11:110210039:G:T Identity +NM_001377260.1:c.564G>T NP_001364189.1:p.Leu188= NC_000001.11:231421324:C:A p.(Leu188=) NC_000001.11:231421324:C:A p.(Leu188=) NC_000001.11:231421324:C:A Identity +NM_001365999.1:c.5010C>G NP_001352928.1:p.Pro1670= NC_000001.11:43431357:C:G p.(Pro1670=) NC_000001.11:43431357:C:G p.(Pro1670=) NC_000001.11:43431357:C:G Identity +NM_005921.2:c.450C>T NP_005912.1:p.Ala150= NC_000005.10:56816022:C:T p.(Ala150=) NC_000005.10:56816022:C:T p.(Ala150=) NC_000005.10:56816022:C:T Identity +NM_001079878.2:c.264G>C NP_001073347.1:p.Val88= NC_000002.12:98380222:G:C p.(Val88=) NC_000002.12:98380222:G:C p.(Val88=) NC_000002.12:98380222:G:C Identity +NM_021784.5:c.133_150dup NP_068556.2:p.Met50_Ser51insGlyMetAsnThrTyrMet NC_000020.11:22583091:CATGTACGTGTTCATGCC:CATGTACGTGTTCATGCCCATGTACGTGTTCATGCC p.(Gly45_Met50dup) NC_000020.11:22583091:CATGTACGTGTTCATGCC:CATGTACGTGTTCATGCCCATGTACGTGTTCATGCC p.(Gly45_Met50dup) ERR:SPDI Analogous +NM_001272073.2:c.1443T>C NP_001259002.1:p.Ala481= NC_000003.12:49099559:A:G p.(Ala481=) NC_000003.12:49099559:A:G p.(Ala481=) NC_000003.12:49099559:A:G Identity +NM_001258206.2:c.186G>T NP_001245135.1:p.Leu62= NC_000019.10:6772992:G:T p.(Leu62=) NC_000019.10:6772992:G:T p.(Leu62=) NC_000019.10:6772992:G:T Identity +NM_000297.4:c.1476A>C NP_000288.1:p.Ile492= NC_000004.12:88046797:A:C p.(Ile492=) NC_000004.12:88046797:A:C p.(Ile492=) NC_000004.12:88046797:A:C Identity +NM_013276.4:c.1203T>G NP_037408.2:p.Ala401= NC_000017.11:3610793:A:C p.(Ala401=) NC_000017.11:3610793:A:C p.(Ala401=) NC_000017.11:3610793:A:C Identity +NM_001309443.2:c.849T>C NP_001296372.1:p.Asp283= NC_000005.10:151664117:A:G p.(Asp283=) NC_000005.10:151664117:A:G p.(Asp283=) NC_000005.10:151664117:A:G Identity +NM_000249.4:c.1869A>C NP_000240.1:p.Ala623= NC_000003.12:37047655:A:C p.(Ala623=) NC_000003.12:37047655:A:C p.(Ala623=) NC_000003.12:37047655:A:C Identity +NM_020693.4:c.5844T>C NP_065744.3:p.Pro1948= NC_000011.10:117428645:A:G p.(Pro1948=) NC_000011.10:117428645:A:G p.(Pro1948=) NC_000011.10:117428645:A:G Identity +NM_001258206.2:c.1806A>G NP_001245135.1:p.Glu602= NC_000019.10:6836459:A:G p.(Glu602=) NC_000019.10:6836459:A:G p.(Glu602=) NC_000019.10:6836459:A:G Identity +NM_002470.4:c.2580C>T NP_002461.2:p.Thr860= NC_000017.11:10640097:G:A p.(Thr860=) NC_000017.11:10640097:G:A p.(Thr860=) NC_000017.11:10640097:G:A Identity +NM_152309.3:c.2406C>T NP_689522.2:p.Pro802= NC_000010.11:96595588:G:A p.(Pro802=) NC_000010.11:96595588:G:A p.(Pro802=) NC_000010.11:96595588:G:A Identity +NM_001105243.2:c.93G>A NP_001098713.1:p.Glu31= NC_000023.11:100408504:C:T p.(Glu31=) NC_000023.11:100408504:C:T p.(Glu31=) NC_000023.11:100408504:C:T Identity +NM_001374321.1:c.1605G>A NP_001361250.1:p.Glu535= NC_000008.11:100220347:G:A p.(Glu535=) NC_000008.11:100220347:G:A p.(Glu535=) NC_000008.11:100220347:G:A Identity +NM_001258215.1:c.2163C>T NP_001245144.1:p.Asp721= NC_000001.11:67395920:C:T p.(Asp721=) NC_000001.11:67395920:C:T p.(Asp721=) NC_000001.11:67395920:C:T Identity +NM_015141.4:c.237A>G NP_055956.1:p.Ser79= NC_000003.12:32138597:A:G p.(Ser79=) NC_000003.12:32138597:A:G p.(Ser79=) NC_000003.12:32138597:A:G Identity +NM_007055.4:c.2175T>C NP_008986.2:p.Asp725= NC_000010.11:78004787:A:G p.(Asp725=) NC_000010.11:78004787:A:G p.(Asp725=) NC_000010.11:78004787:A:G Identity +NM_000249.4:c.1338C>T NP_000240.1:p.Ser446= NC_000003.12:37025935:C:T p.(Ser446=) NC_000003.12:37025935:C:T p.(Ser446=) NC_000003.12:37025935:C:T Identity +NM_001291415.2:c.2073C>A NP_001278344.1:p.Ser691= NC_000023.11:45063810:C:A p.(Ser691=) NC_000023.11:45063810:C:A p.(Ser691=) NC_000023.11:45063810:C:A Identity +NM_030773.4:c.855C>G NP_110400.1:p.Ser285= NC_000020.11:59024281:C:G p.(Ser285=) NC_000020.11:59024281:C:G p.(Ser285=) NC_000020.11:59024281:C:G Identity +NM_001081676.2:c.4983C>A NP_001075145.1:p.Gly1661= NC_000002.12:165091022:G:T p.(Gly1661=) NC_000002.12:165091022:G:T p.(Gly1661=) NC_000002.12:165091022:G:T Identity +NM_000944.5:c.216T>C NP_000935.1:p.Leu72= NC_000004.12:101195958:A:G p.(Leu72=) NC_000004.12:101195958:A:G p.(Leu72=) NC_000004.12:101195958:A:G Identity +NM_001283106.3:c.141C>T NP_001270035.1:p.Leu47= NC_000022.11:20043438:C:T p.(Leu47=) NC_000022.11:20043438:C:T p.(Leu47=) NC_000022.11:20043438:C:T Identity +NM_001272073.2:c.1521A>G NP_001259002.1:p.Thr507= NC_000003.12:49099403:T:C p.(Thr507=) NC_000003.12:49099403:T:C p.(Thr507=) NC_000003.12:49099403:T:C Identity +NM_001170629.2:c.4080T>G NP_001164100.1:p.Ser1360= NC_000014.9:21401495:A:C p.(Ser1360=) NC_000014.9:21401495:A:C p.(Ser1360=) NC_000014.9:21401495:A:C Identity +NM_001077397.1:c.999A>G NP_001070865.1:p.Ala333= NC_000001.11:234608495:T:C p.(Ala333=) NC_000001.11:234608495:T:C p.(Ala333=) NC_000001.11:234608495:T:C Identity +NM_001276270.2:c.690G>A NP_001263199.1:p.Lys230= NC_000003.12:129436953:C:T p.(Lys230=) NC_000003.12:129436953:C:T p.(Lys230=) NC_000003.12:129436953:C:T Identity +NM_001039675.2:c.1047C>G NP_001034764.1:p.Thr349= NC_000015.10:90944955:C:G p.(Thr349=) NC_000015.10:90944955:C:G p.(Thr349=) NC_000015.10:90944955:C:G Identity +NM_001271620.2:c.2343G>C NP_001258549.1:p.Thr781= NC_000016.10:49636628:C:G p.(Thr781=) NC_000016.10:49636628:C:G p.(Thr781=) NC_000016.10:49636628:C:G Identity +NM_007055.4:c.3444A>G NP_008986.2:p.Thr1148= NC_000010.11:77982802:T:C p.(Thr1148=) NC_000010.11:77982802:T:C p.(Thr1148=) NC_000010.11:77982802:T:C Identity +NM_001276270.2:c.1344T>C NP_001263199.1:p.His448= NC_000003.12:129433898:A:G p.(His448=) NC_000003.12:129433898:A:G p.(His448=) NC_000003.12:129433898:A:G Identity +NM_001961.4:c.816G>A NP_001952.1:p.Lys272= NC_000019.10:3982027:C:T p.(Lys272=) NC_000019.10:3982027:C:T p.(Lys272=) NC_000019.10:3982027:C:T Identity +NM_001377289.1:c.1137A>G NP_001364218.1:p.Pro379= NC_000006.12:70252155:T:C p.(Pro379=) NC_000006.12:70252155:T:C p.(Pro379=) NC_000006.12:70252155:T:C Identity +NM_001113178.3:c.2121A>G NP_001106649.1:p.Pro707= NC_000016.10:69691948:A:G p.(Pro707=) NC_000016.10:69691948:A:G p.(Pro707=) NC_000016.10:69691948:A:G Identity +NM_001267722.2:c.1557_1562del NP_001254651.1:p.Met519_Glu521delinsIle NC_000004.12:56500596:GCGAGA: p.(Met519_Glu521delinsIle) NC_000004.12:56500596:GCGAGA: p.(Met519_Glu521delinsIle) NC_000004.12:56500596:GCGAGA: Identity +NM_152305.3:c.1110G>C NP_689518.1:p.Leu370= NC_000003.12:119492368:G:C p.(Leu370=) NC_000003.12:119492368:G:C p.(Leu370=) NC_000003.12:119492368:G:C Identity +NM_001345950.1:c.840C>G NP_001332879.1:p.Thr280= NC_000010.11:102656272:C:G p.(Thr280=) NC_000010.11:102656272:C:G p.(Thr280=) NC_000010.11:102656272:C:G Identity +NM_000721.4:c.2523C>G NP_000712.2:p.Ala841= NC_000001.11:181732608:C:G p.(Ala841=) NC_000001.11:181732608:C:G p.(Ala841=) NC_000001.11:181732608:C:G Identity +NM_001202554.2:c.504C>T NP_001189483.1:p.Tyr168= NC_000001.11:26794537:C:T p.(Tyr168=) NC_000001.11:26794537:C:T p.(Tyr168=) NC_000001.11:26794537:C:T Identity +NM_001001935.3:c.132A>G NP_001001935.1:p.Glu44= NC_000018.10:46091708:T:C p.(Glu44=) NC_000018.10:46091708:T:C p.(Glu44=) NC_000018.10:46091708:T:C Identity +NM_001375567.1:c.2433A>G NP_001362496.1:p.Ala811= NC_000009.12:20881985:A:G p.(Ala811=) NC_000009.12:20881985:A:G p.(Ala811=) NC_000009.12:20881985:A:G Identity +NM_001195573.1:c.315G>A NP_001182502.1:p.Gln105= NC_000014.9:95131631:C:T p.(Gln105=) NC_000014.9:95131631:C:T p.(Gln105=) NC_000014.9:95131631:C:T Identity +NM_001321309.2:c.3654G>A NP_001308238.1:p.Leu1218= NC_000003.12:123657231:C:T p.(Leu1218=) NC_000003.12:123657231:C:T p.(Leu1218=) NC_000003.12:123657231:C:T Identity +NM_020778.5:c.63C>T NP_065829.4:p.Gly21= NC_000015.10:84817514:C:T p.(Gly21=) NC_000015.10:84817514:C:T p.(Gly21=) NC_000015.10:84817514:C:T Identity +NM_001286414.3:c.1672C>A NP_001273343.1:p.Arg558= NC_000015.10:43401787:C:A p.(Arg558=) NC_000015.10:43401787:C:A p.(Arg558=) NC_000015.10:43401787:C:A Identity +NM_001160130.2:c.1654T>C NP_001153602.1:p.Leu552= NC_000006.12:73190675:T:C p.(Leu552=) NC_000006.12:73190675:T:C p.(Leu552=) NC_000006.12:73190675:T:C Identity +NM_001286577.2:c.4468C>T NP_001273506.1:p.Leu1490= NC_000011.10:74078249:G:A p.(Leu1490=) NC_000011.10:74078249:G:A p.(Leu1490=) NC_000011.10:74078249:G:A Identity +NM_001363711.2:c.1158G>A NP_001350640.1:p.Glu386= NC_000015.10:45109599:C:T p.(Glu386=) NC_000015.10:45109599:C:T p.(Glu386=) NC_000015.10:45109599:C:T Identity +NM_000789.4:c.2598C>G NP_000780.1:p.Ala866= NC_000017.11:63489088:C:G p.(Ala866=) NC_000017.11:63489088:C:G p.(Ala866=) NC_000017.11:63489088:C:G Identity +NM_001378418.1:c.5010G>T NP_001365347.1:p.Leu1670= NC_000022.11:42210295:C:A p.(Leu1670=) NC_000022.11:42210295:C:A p.(Leu1670=) NC_000022.11:42210295:C:A Identity +NM_144773.4:c.282C>T NP_658986.1:p.Asn94= NC_000020.11:5314087:G:A p.(Asn94=) NC_000020.11:5314087:G:A p.(Asn94=) NC_000020.11:5314087:G:A Identity +NM_001270949.2:c.363C>T NP_001257878.1:p.Ser121= NC_000018.10:62354469:C:T p.(Ser121=) NC_000018.10:62354469:C:T p.(Ser121=) NC_000018.10:62354469:C:T Identity +NM_001184976.2:c.255T>A NP_001171905.1:p.Ile85= NC_000012.12:54508429:T:A p.(Ile85=) NC_000012.12:54508429:T:A p.(Ile85=) NC_000012.12:54508429:T:A Identity +NM_001178129.2:c.66C>T NP_001171600.1:p.Ser22= NC_000007.14:83490143:G:A p.(Ser22=) NC_000007.14:83490143:G:A p.(Ser22=) NC_000007.14:83490143:G:A Identity +NM_000719.7:c.3009C>T NP_000710.5:p.Leu1003= NC_000012.12:2605128:C:T p.(Leu1003=) NC_000012.12:2605128:C:T p.(Leu1003=) NC_000012.12:2605128:C:T Identity +NM_003036.4:c.1942C>A NP_003027.1:p.Arg648= NC_000001.11:2306193:C:A p.(Arg648=) NC_000001.11:2306193:C:A p.(Arg648=) NC_000001.11:2306193:C:A Identity +NM_001852.4:c.1347C>T NP_001843.1:p.Leu449= NC_000001.11:40303948:G:A p.(Leu449=) NC_000001.11:40303948:G:A p.(Leu449=) NC_000001.11:40303948:G:A Identity +NM_001385678.1:c.1671A>G NP_001372607.1:p.Ser557= NC_000019.10:4816664:T:C p.(Ser557=) NC_000019.10:4816664:T:C p.(Ser557=) NC_000019.10:4816664:T:C Identity +NM_001269039.3:c.1062T>C NP_001255968.1:p.Thr354= NC_000010.11:111007568:T:C p.(Thr354=) NC_000010.11:111007568:T:C p.(Thr354=) NC_000010.11:111007568:T:C Identity +NM_001130865.3:c.633C>T NP_001124337.1:p.Leu211= NC_000009.12:1055725:C:T p.(Leu211=) NC_000009.12:1055725:C:T p.(Leu211=) NC_000009.12:1055725:C:T Identity +NM_001142402.3:c.360C>T NP_001135874.1:p.Ala120= NC_000006.12:109376083:G:A p.(Ala120=) NC_000006.12:109376083:G:A p.(Ala120=) NC_000006.12:109376083:G:A Identity +NM_001278192.2:c.2001C>T NP_001265121.1:p.Asp667= NC_000011.10:62627092:G:A p.(Asp667=) NC_000011.10:62627092:G:A p.(Asp667=) NC_000011.10:62627092:G:A Identity +NM_022772.4:c.1527C>T NP_073609.2:p.Asn509= NC_000011.10:724795:C:T p.(Asn509=) NC_000011.10:724795:C:T p.(Asn509=) NC_000011.10:724795:C:T Identity +NM_001365023.1:c.1365G>C NP_001351952.1:p.Pro455= NC_000009.12:74685569:G:C p.(Pro455=) NC_000009.12:74685569:G:C p.(Pro455=) NC_000009.12:74685569:G:C Identity +NM_004218.4:c.594C>T NP_004209.2:p.Ile198= NC_000019.10:8403494:C:T p.(Ile198=) NC_000019.10:8403494:C:T p.(Ile198=) NC_000019.10:8403494:C:T Identity +NM_005188.4:c.2496C>T NP_005179.2:p.Asn832= NC_000011.10:119299555:C:T p.(Asn832=) NC_000011.10:119299555:C:T p.(Asn832=) NC_000011.10:119299555:C:T Identity +NM_001278192.2:c.615G>T NP_001265121.1:p.Gly205= NC_000011.10:62632669:C:A p.(Gly205=) NC_000011.10:62632669:C:A p.(Gly205=) NC_000011.10:62632669:C:A Identity +NM_152424.4:c.1815C>A NP_689637.3:p.Gly605= NC_000023.11:64191471:G:T p.(Gly605=) NC_000023.11:64191471:G:T p.(Gly605=) NC_000023.11:64191471:G:T Identity +NM_004369.4:c.3423C>T NP_004360.2:p.Ala1141= NC_000002.12:237374667:G:A p.(Ala1141=) NC_000002.12:237374667:G:A p.(Ala1141=) NC_000002.12:237374667:G:A Identity +NM_003906.5:c.1767G>A NP_003897.2:p.Val589= NC_000021.9:46277617:C:T p.(Val589=) NC_000021.9:46277617:C:T p.(Val589=) NC_000021.9:46277617:C:T Identity +NM_001207000.1:c.159G>A NP_001193929.1:p.Gly53= NC_000004.12:82429531:C:T p.(Gly53=) NC_000004.12:82429531:C:T p.(Gly53=) NC_000004.12:82429531:C:T Identity +NM_001303110.2:c.15C>T NP_001290039.1:p.Leu5= NC_000013.11:110307012:G:A p.(Leu5=) NC_000013.11:110307012:G:A p.(Leu5=) NC_000013.11:110307012:G:A Identity +NM_000335.5:c.4143C>T NP_000326.2:p.Ser1381= NC_000003.12:38560245:G:A p.(Ser1381=) NC_000003.12:38560245:G:A p.(Ser1381=) NC_000003.12:38560245:G:A Identity +NM_000458.4:c.120G>T NP_000449.1:p.Gly40= NC_000017.11:37744764:C:A p.(Gly40=) NC_000017.11:37744764:C:A p.(Gly40=) NC_000017.11:37744764:C:A Identity +NM_000489.6:c.4356GGAGGAAGAGGAGGAGGA[3] NP_000480.3:p.Glu1464_Asp1465insGluGluGluGluGluGlu NC_000023.11:77652279:TCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTC:TCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTC p.(Glu1459_Glu1464dup) NC_000023.11:77652314:C:TCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCTTCCTCC ERR:Parse ERR:Parse Analogous +NM_002470.4:c.453C>G NP_002461.2:p.Ala151= NC_000017.11:10651563:G:C p.(Ala151=) NC_000017.11:10651563:G:C p.(Ala151=) NC_000017.11:10651563:G:C Identity +NM_000545.8:c.963C>T NP_000536.6:p.Arg321= NC_000012.12:120996268:C:T p.(Arg321=) NC_000012.12:120996268:C:T p.(Arg321=) NC_000012.12:120996268:C:T Identity +NM_001407571.1:c.450A>C NP_001394500.1:p.Ala150= NC_000017.11:43095852:T:G p.(Ala150=) NC_000017.11:43095852:T:G p.(Ala150=) NC_000017.11:43095852:T:G Identity +NM_001406876.1:c.1728T>C NP_001393805.1:p.Phe576= NC_000007.14:5982951:A:G p.(Phe576=) NC_000007.14:5982951:A:G p.(Phe576=) NC_000007.14:5982951:A:G Identity +NM_001184976.2:c.399T>C NP_001171905.1:p.Tyr133= NC_000012.12:54509710:T:C p.(Tyr133=) NC_000012.12:54509710:T:C p.(Tyr133=) NC_000012.12:54509710:T:C Identity +NM_001410908.1:c.3270G>T NP_001397837.1:p.Ser1090= NC_000007.14:105107726:G:T p.(Ser1090=) NC_000007.14:105107726:G:T p.(Ser1090=) NC_000007.14:105107726:G:T Identity +NM_001285549.2:c.4044G>A NP_001272478.1:p.Glu1348= NC_000002.12:206308577:G:A p.(Glu1348=) NC_000002.12:206308577:G:A p.(Glu1348=) NC_000002.12:206308577:G:A Identity +NM_019098.5:c.18A>G NP_061971.3:p.Thr6= NC_000008.11:86743609:T:C p.(Thr6=) NC_000008.11:86743609:T:C p.(Thr6=) NC_000008.11:86743609:T:C Identity +NM_001193455.2:c.1860A>G NP_001180384.1:p.Gly620= NC_000005.10:6602492:T:C p.(Gly620=) NC_000005.10:6602492:T:C p.(Gly620=) NC_000005.10:6602492:T:C Identity +NM_004341.5:c.2010C>G NP_004332.2:p.Ala670= NC_000002.12:27226297:C:G p.(Ala670=) NC_000002.12:27226297:C:G p.(Ala670=) NC_000002.12:27226297:C:G Identity +NM_000038.6:c.337_342del NP_000029.2:p.Val113_Pro114del NC_000005.10:112767300:TCCTGTTCCT:TCCT p.(Val113_Pro114del) NC_000005.10:112767300:TCCTGTTCCT:TCCT p.(Val113_Pro114del) NC_000005.10:112767304:GTTCCT: Identity +NM_001375397.1:c.1359C>A NP_001362326.1:p.Leu453= NC_000006.12:53012041:G:T p.(Leu453=) NC_000006.12:53012041:G:T p.(Leu453=) NC_000006.12:53012041:G:T Identity +NM_001256071.3:c.2175C>T NP_001243000.2:p.Leu725= NC_000017.11:80298482:C:T p.(Leu725=) NC_000017.11:80298482:C:T p.(Leu725=) NC_000017.11:80298482:C:T Identity +NM_015180.6:c.9513A>G NP_055995.4:p.Gln3171= NC_000014.9:64053425:A:G p.(Gln3171=) NC_000014.9:64053425:A:G p.(Gln3171=) NC_000014.9:64053425:A:G Identity +NM_001105077.4:c.3232C>T NP_001098547.3:p.Leu1078= NC_000003.12:169085027:G:A p.(Leu1078=) NC_000003.12:169085027:G:A p.(Leu1078=) NC_000003.12:169085027:G:A Identity +NM_025074.7:c.11781C>T NP_079350.5:p.Asn3927= NC_000004.12:78540865:C:T p.(Asn3927=) NC_000004.12:78540865:C:T p.(Asn3927=) NC_000004.12:78540865:C:T Identity +NM_000856.6:c.1953C>T NP_000847.2:p.Pro651= NC_000004.12:155730110:C:T p.(Pro651=) NC_000004.12:155730110:C:T p.(Pro651=) NC_000004.12:155730110:C:T Identity +NM_001200.4:c.1020T>C NP_001191.1:p.Thr340= NC_000020.11:6778917:T:C p.(Thr340=) NC_000020.11:6778917:T:C p.(Thr340=) NC_000020.11:6778917:T:C Identity +NM_017780.4:c.5901A>G NP_060250.2:p.Thr1967= NC_000008.11:60852503:A:G p.(Thr1967=) NC_000008.11:60852503:A:G p.(Thr1967=) NC_000008.11:60852503:A:G Identity +NM_018646.6:c.1524C>T NP_061116.5:p.Phe508= NC_000007.14:142874538:G:A p.(Phe508=) NC_000007.14:142874538:G:A p.(Phe508=) NC_000007.14:142874538:G:A Identity +NM_001276270.2:c.1659_1660delinsTA NP_001263199.1:p.Glu553_Asp554delinsAspAsn NC_000003.12:129431565:CT:TA p.(Glu553_Asp554delinsAspAsn) NC_000003.12:129431565:CT:TA p.(Glu553_Asp554delinsAspAsn) NC_000003.12:129431565:CT:TA Identity +NM_001290307.3:c.525C>T NP_001277236.1:p.Ile175= NC_000005.10:138812238:C:T p.(Ile175=) NC_000005.10:138812238:C:T p.(Ile175=) NC_000005.10:138812238:C:T Identity +NM_001168370.2:c.3255C>T NP_001161842.2:p.Asn1085= NC_000006.12:43044764:G:A p.(Asn1085=) NC_000006.12:43044764:G:A p.(Asn1085=) NC_000006.12:43044764:G:A Identity +NM_001291746.2:c.957C>T NP_001278675.1:p.Leu319= NC_000002.12:60920607:C:T p.(Leu319=) NC_000002.12:60920607:C:T p.(Leu319=) NC_000002.12:60920607:C:T Identity +NM_001377273.1:c.1773G>C NP_001364202.1:p.Val591= NC_000012.12:21894060:C:G p.(Val591=) NC_000012.12:21894060:C:G p.(Val591=) NC_000012.12:21894060:C:G Identity +NM_000350.3:c.2634G>T NP_000341.2:p.Ser878= NC_000001.11:94051651:C:A p.(Ser878=) NC_000001.11:94051651:C:A p.(Ser878=) NC_000001.11:94051651:C:A Identity +NM_001042771.3:c.1143A>G NP_001036236.1:p.Ala381= NC_000001.11:32279941:A:G p.(Ala381=) NC_000001.11:32279941:A:G p.(Ala381=) NC_000001.11:32279941:A:G Identity +NM_005249.5:c.816G>A NP_005240.3:p.Lys272= NC_000014.9:28768094:G:A p.(Lys272=) NC_000014.9:28768094:G:A p.(Lys272=) NC_000014.9:28768094:G:A Identity +NM_001130823.3:c.4644C>T NP_001124295.1:p.Pro1548= NC_000019.10:10136132:G:A p.(Pro1548=) NC_000019.10:10136132:G:A p.(Pro1548=) NC_000019.10:10136132:G:A Identity +NM_153240.5:c.258C>T NP_694972.3:p.Tyr86= NC_000003.12:132722097:G:A p.(Tyr86=) NC_000003.12:132722097:G:A p.(Tyr86=) NC_000003.12:132722097:G:A Identity +NM_001166260.2:c.669G>A NP_001159732.1:p.Ser223= NC_000005.10:907189:G:A p.(Ser223=) NC_000005.10:907189:G:A p.(Ser223=) NC_000005.10:907189:G:A Identity +NM_001007097.3:c.1233G>A NP_001007098.1:p.Thr411= NC_000009.12:84745009:G:A p.(Thr411=) NC_000009.12:84745009:G:A p.(Thr411=) NC_000009.12:84745009:G:A Identity +NM_001411101.1:c.2196_2197delinsAA NP_001398030.1:p.Asp732_Pro733delinsGluThr NC_000017.11:82923719:TC:AA p.(Asp732_Pro733delinsGluThr) NC_000017.11:82923719:TC:AA p.(Asp732_Pro733delinsGluThr) NC_000017.11:82923719:TC:AA Identity +NM_001304482.2:c.729G>A NP_001291411.1:p.Ser243= NC_000003.12:47407799:G:A p.(Ser243=) NC_000003.12:47407799:G:A p.(Ser243=) NC_000003.12:47407799:G:A Identity +NM_002238.4:c.2670C>T NP_002229.1:p.Ile890= NC_000001.11:210683499:G:A p.(Ile890=) NC_000001.11:210683499:G:A p.(Ile890=) NC_000001.11:210683499:G:A Identity +NM_002872.5:c.39C>G NP_002863.1:p.Ala13= NC_000022.11:37241654:G:C p.(Ala13=) NC_000022.11:37241654:G:C p.(Ala13=) NC_000022.11:37241654:G:C Identity +NM_015965.7:c.255G>A NP_057049.5:p.Gln85= NC_000019.10:19527709:G:A p.(Gln85=) NC_000019.10:19527709:G:A p.(Gln85=) NC_000019.10:19527709:G:A Identity +NM_032888.4:c.2184T>C NP_116277.2:p.Pro728= NC_000009.12:114205772:T:C p.(Pro728=) NC_000009.12:114205772:T:C p.(Pro728=) NC_000009.12:114205772:T:C Identity +NM_000373.4:c.723G>A NP_000364.1:p.Ser241= NC_000003.12:124737979:G:A p.(Ser241=) NC_000003.12:124737979:G:A p.(Ser241=) NC_000003.12:124737979:G:A Identity +NM_001376.5:c.3247C>T NP_001367.2:p.Leu1083= NC_000014.9:101994762:C:T p.(Leu1083=) NC_000014.9:101994762:C:T p.(Leu1083=) NC_000014.9:101994762:C:T Identity +NM_001136029.4:c.2691G>A NP_001129501.1:p.Val897= NC_000022.11:31843728:G:A p.(Val897=) NC_000022.11:31843728:G:A p.(Val897=) NC_000022.11:31843728:G:A Identity +NM_001244580.2:c.4866G>A NP_001231509.1:p.Thr1622= NC_000007.14:98949514:G:A p.(Thr1622=) NC_000007.14:98949514:G:A p.(Thr1622=) NC_000007.14:98949514:G:A Identity +NM_001008537.3:c.3912C>T NP_001008537.1:p.Ser1304= NC_000023.11:74740644:G:A p.(Ser1304=) NC_000023.11:74740644:G:A p.(Ser1304=) NC_000023.11:74740644:G:A Identity +NM_001369346.1:c.2010A>G NP_001356275.1:p.Thr670= NC_000002.12:25744152:T:C p.(Thr670=) NC_000002.12:25744152:T:C p.(Thr670=) NC_000002.12:25744152:T:C Identity +NM_213606.4:c.1284C>T NP_998771.3:p.Ile428= NC_000010.11:89436063:G:A p.(Ile428=) NC_000010.11:89436063:G:A p.(Ile428=) NC_000010.11:89436063:G:A Identity +NM_001193493.2:c.240C>T NP_001180422.1:p.Asn80= NC_000002.12:65018169:C:T p.(Asn80=) NC_000002.12:65018169:C:T p.(Asn80=) NC_000002.12:65018169:C:T Identity +NM_001410755.1:c.954C>T NP_001397684.1:p.Pro318= NC_000001.11:15727085:C:T p.(Pro318=) NC_000001.11:15727085:C:T p.(Pro318=) NC_000001.11:15727085:C:T Identity +NM_000350.3:c.3069C>T NP_000341.2:p.His1023= NC_000001.11:94043456:G:A p.(His1023=) NC_000001.11:94043456:G:A p.(His1023=) NC_000001.11:94043456:G:A Identity +NM_001077653.2:c.468C>T NP_001071121.1:p.Asp156= NC_000007.14:35248753:G:A p.(Asp156=) NC_000007.14:35248753:G:A p.(Asp156=) NC_000007.14:35248753:G:A Identity +NM_000076.2:c.510G>C NP_000067.1:p.Ala170= NC_000011.10:2884979:C:G p.(Ala170=) NC_000011.10:2884979:C:G p.(Ala170=) NC_000011.10:2884979:C:G Identity +NM_020884.7:c.2856C>T NP_065935.4:p.Asp952= NC_000020.11:34995490:C:T p.(Asp952=) NC_000020.11:34995490:C:T p.(Asp952=) NC_000020.11:34995490:C:T Identity +NM_000118.4:c.669C>T NP_000109.1:p.Val223= NC_000009.12:127825714:G:A p.(Val223=) NC_000009.12:127825714:G:A p.(Val223=) NC_000009.12:127825714:G:A Identity +NM_000350.3:c.1536G>C NP_000341.2:p.Leu512= NC_000001.11:94077707:C:G p.(Leu512=) NC_000001.11:94077707:C:G p.(Leu512=) NC_000001.11:94077707:C:G Identity +NM_002838.5:c.2394C>T NP_002829.3:p.Asn798= NC_000001.11:198735242:C:T p.(Asn798=) NC_000001.11:198735242:C:T p.(Asn798=) NC_000001.11:198735242:C:T Identity +NM_001193455.2:c.1362G>A NP_001180384.1:p.Glu454= NC_000005.10:6607240:C:T p.(Glu454=) NC_000005.10:6607240:C:T p.(Glu454=) NC_000005.10:6607240:C:T Identity +NM_001129.5:c.3216G>T NP_001120.3:p.Pro1072= NC_000007.14:44113999:G:T p.(Pro1072=) NC_000007.14:44113999:G:T p.(Pro1072=) NC_000007.14:44113999:G:T Identity +NM_001024630.4:c.1077G>A NP_001019801.3:p.Lys359= NC_000006.12:45545271:G:A p.(Lys359=) NC_000006.12:45545271:G:A p.(Lys359=) NC_000006.12:45545271:G:A Identity +NM_024656.4:c.1293G>A NP_078932.2:p.Ser431= NC_000019.10:17579507:G:A p.(Ser431=) NC_000019.10:17579507:G:A p.(Ser431=) NC_000019.10:17579507:G:A Identity +NM_001077182.3:c.1149G>A NP_001070650.1:p.Gly383= NC_000017.11:81536592:G:A p.(Gly383=) NC_000017.11:81536592:G:A p.(Gly383=) NC_000017.11:81536592:G:A Identity +NM_001318491.2:c.1284A>G NP_001305420.1:p.Arg428= NC_000013.11:20631056:A:G p.(Arg428=) NC_000013.11:20631056:A:G p.(Arg428=) NC_000013.11:20631056:A:G Identity +NM_006766.5:c.3723A>G NP_006757.2:p.Glu1241= NC_000008.11:41934496:T:C p.(Glu1241=) NC_000008.11:41934496:T:C p.(Glu1241=) NC_000008.11:41934496:T:C Identity +NM_001040436.3:c.543C>T NP_001035526.1:p.His181= NC_000012.12:32755331:G:A p.(His181=) NC_000012.12:32755331:G:A p.(His181=) NC_000012.12:32755331:G:A Identity +NM_019066.5:c.735G>A NP_061939.3:p.Pro245= NC_000015.10:23647007:C:T p.(Pro245=) NC_000015.10:23647007:C:T p.(Pro245=) NC_000015.10:23647007:C:T Identity +NM_001183.6:c.480C>T NP_001174.2:p.Asp160= NC_000023.11:154432381:C:T p.(Asp160=) NC_000023.11:154432381:C:T p.(Asp160=) NC_000023.11:154432381:C:T Identity +NM_001164232.2:c.1689A>G NP_001157704.1:p.Pro563= NC_000008.11:38252792:A:G p.(Pro563=) NC_000008.11:38252792:A:G p.(Pro563=) NC_000008.11:38252792:A:G Identity +NM_001142281.2:c.990C>T NP_001135753.1:p.Gly330= NC_000011.10:118597718:C:T p.(Gly330=) NC_000011.10:118597718:C:T p.(Gly330=) NC_000011.10:118597718:C:T Identity +NM_002133.3:c.792G>A NP_002124.1:p.Gln264= NC_000022.11:35393522:G:A p.(Gln264=) NC_000022.11:35393522:G:A p.(Gln264=) NC_000022.11:35393522:G:A Identity +NM_012079.6:c.195G>A NP_036211.2:p.Glu65= NC_000008.11:144326441:C:T p.(Glu65=) NC_000008.11:144326441:C:T p.(Glu65=) NC_000008.11:144326441:C:T Identity +NM_002389.4:c.1008A>G NP_002380.3:p.Glu336= NC_000001.11:207783310:A:G p.(Glu336=) NC_000001.11:207783310:A:G p.(Glu336=) NC_000001.11:207783310:A:G Identity +NM_001130066.2:c.1740C>G NP_001123538.1:p.Gly580= NC_000006.12:33440791:C:G p.(Gly580=) NC_000006.12:33440791:C:G p.(Gly580=) NC_000006.12:33440791:C:G Identity +NM_001942.4:c.2550T>C NP_001933.2:p.Ser850= NC_000018.10:31354745:T:C p.(Ser850=) NC_000018.10:31354745:T:C p.(Ser850=) NC_000018.10:31354745:T:C Identity +NM_004995.4:c.1627_1638dup NP_004986.1:p.Val546_Leu547insValLeuProVal NC_000014.9:22845911:CCGTGGTGCTGCCCGTG:CCGTGGTGCTGCCCGTGGTGCTGCCCGTG p.(Val543_Val546dup) NC_000014.9:22845911:CCGTGGTGCTGCCCGTG:CCGTGGTGCTGCCCGTGGTGCTGCCCGTG p.(Val543_Val546dup) ERR:SPDI Analogous +NM_001190818.2:c.1386C>T NP_001177747.1:p.Leu462= NC_000001.11:52385946:G:A p.(Leu462=) NC_000001.11:52385946:G:A p.(Leu462=) NC_000001.11:52385946:G:A Identity +NM_001291411.2:c.3975A>G NP_001278340.2:p.Val1325= NC_000021.9:33553205:A:G p.(Val1325=) NC_000021.9:33553205:A:G p.(Val1325=) NC_000021.9:33553205:A:G Identity +NM_145290.4:c.483G>A NP_660333.2:p.Ser161= NC_000004.12:22447501:C:T p.(Ser161=) NC_000004.12:22447501:C:T p.(Ser161=) NC_000004.12:22447501:C:T Identity +NM_013432.5:c.2256C>T NP_038460.4:p.Pro752= NC_000008.11:144436176:G:A p.(Pro752=) NC_000008.11:144436176:G:A p.(Pro752=) NC_000008.11:144436176:G:A Identity +NM_001365684.2:c.5259A>G NP_001352613.2:p.Ala1753= NC_000005.10:177283908:A:G p.(Ala1753=) NC_000005.10:177283908:A:G p.(Ala1753=) NC_000005.10:177283908:A:G Identity +NM_001142294.2:c.1221A>G NP_001135766.1:p.Pro407= NC_000013.11:36326641:T:C p.(Pro407=) NC_000013.11:36326641:T:C p.(Pro407=) NC_000013.11:36326641:T:C Identity +NM_001256267.2:c.795G>A NP_001243196.1:p.Leu265= NC_000010.11:68122232:G:A p.(Leu265=) NC_000010.11:68122232:G:A p.(Leu265=) NC_000010.11:68122232:G:A Identity +NM_001166133.2:c.4839T>C NP_001159605.1:p.Ser1613= NC_000004.12:78429221:T:C p.(Ser1613=) NC_000004.12:78429221:T:C p.(Ser1613=) NC_000004.12:78429221:T:C Identity +NM_001164098.2:c.3528G>A NP_001157570.1:p.Glu1176= NC_000005.10:83521833:G:A p.(Glu1176=) NC_000005.10:83521833:G:A p.(Glu1176=) NC_000005.10:83521833:G:A Identity +NM_000208.4:c.2115G>A NP_000199.2:p.Ser705= NC_000019.10:7152841:C:T p.(Ser705=) NC_000019.10:7152841:C:T p.(Ser705=) NC_000019.10:7152841:C:T Identity +NM_022167.4:c.1578C>T NP_071450.2:p.Tyr526= NC_000017.11:50356605:C:T p.(Tyr526=) NC_000017.11:50356605:C:T p.(Tyr526=) NC_000017.11:50356605:C:T Identity +NM_014510.3:c.4284T>C NP_055325.2:p.Ala1428= NC_000007.14:82956668:A:G p.(Ala1428=) NC_000007.14:82956668:A:G p.(Ala1428=) NC_000007.14:82956668:A:G Identity +NM_001128431.4:c.870C>T NP_001121903.1:p.Cys290= NC_000008.11:22415887:C:T p.(Cys290=) NC_000008.11:22415887:C:T p.(Cys290=) NC_000008.11:22415887:C:T Identity +NM_032656.4:c.2244A>G NP_116045.2:p.Gln748= NC_000012.12:124957048:T:C p.(Gln748=) NC_000012.12:124957048:T:C p.(Gln748=) NC_000012.12:124957048:T:C Identity +NM_001080414.4:c.5475C>A NP_001073883.2:p.Ser1825= NC_000014.9:91273236:G:T p.(Ser1825=) NC_000014.9:91273236:G:T p.(Ser1825=) NC_000014.9:91273236:G:T Identity +NM_001145853.1:c.1533G>C NP_001139325.1:p.Leu511= NC_000004.12:6301327:G:C p.(Leu511=) NC_000004.12:6301327:G:C p.(Leu511=) NC_000004.12:6301327:G:C Identity +NM_003737.4:c.2535G>C NP_003728.1:p.Leu845= NC_000011.10:6632976:C:G p.(Leu845=) NC_000011.10:6632976:C:G p.(Leu845=) NC_000011.10:6632976:C:G Identity +NM_000540.3:c.4752G>A NP_000531.2:p.Lys1584= NC_000019.10:38483333:G:A p.(Lys1584=) NC_000019.10:38483333:G:A p.(Lys1584=) NC_000019.10:38483333:G:A Identity +NM_001130455.2:c.2889A>G NP_001123927.1:p.Gly963= NC_000002.12:71569894:A:G p.(Gly963=) NC_000002.12:71569894:A:G p.(Gly963=) NC_000002.12:71569894:A:G Identity +NM_001367624.2:c.2961G>T NP_001354553.1:p.Gly987= NC_000016.10:88430430:G:T p.(Gly987=) NC_000016.10:88430430:G:T p.(Gly987=) NC_000016.10:88430430:G:T Identity +NM_001077653.2:c.1290T>C NP_001071121.1:p.Tyr430= NC_000007.14:35202483:A:G p.(Tyr430=) NC_000007.14:35202483:A:G p.(Tyr430=) NC_000007.14:35202483:A:G Identity +NM_001130103.2:c.75G>A NP_001123575.1:p.Thr25= NC_000010.11:69802497:G:A p.(Thr25=) NC_000010.11:69802497:G:A p.(Thr25=) NC_000010.11:69802497:G:A Identity +NM_024685.4:c.1116A>G NP_078961.3:p.Lys372= NC_000012.12:76346868:T:C p.(Lys372=) NC_000012.12:76346868:T:C p.(Lys372=) NC_000012.12:76346868:T:C Identity +NM_001169109.2:c.600G>A NP_001162580.1:p.Gln200= NC_000022.11:50523811:C:T p.(Gln200=) NC_000022.11:50523811:C:T p.(Gln200=) NC_000022.11:50523811:C:T Identity +NM_000109.4:c.9000_9014dup NP_000100.3:p.Tyr3004_Asn3005insLysLeuSerProTyr NC_000023.11:31444526:TTATACGGTGAGAGCT:TTATACGGTGAGAGCTTATACGGTGAGAGCT p.(Tyr3004_Asn3005insLysLeuSerProTyr) NC_000023.11:31444526:TTATACGGTGAGAGCT:TTATACGGTGAGAGCTTATACGGTGAGAGCT p.(Tyr3004_Asn3005insLysLeuSerProTyr) ERR:SPDI Identity +NM_000435.3:c.6375G>A NP_000426.2:p.Gly2125= NC_000019.10:15161252:C:T p.(Gly2125=) NC_000019.10:15161252:C:T p.(Gly2125=) NC_000019.10:15161252:C:T Identity +NM_005458.8:c.1305G>A NP_005449.5:p.Arg435= NC_000009.12:98394247:C:T p.(Arg435=) NC_000009.12:98394247:C:T p.(Arg435=) NC_000009.12:98394247:C:T Identity +NM_001278666.2:c.450A>G NP_001265595.1:p.Thr150= NC_000006.12:57194800:T:C p.(Thr150=) NC_000006.12:57194800:T:C p.(Thr150=) NC_000006.12:57194800:T:C Identity +NM_001321431.2:c.1242C>T NP_001308360.1:p.His414= NC_000019.10:8136490:G:A p.(His414=) NC_000019.10:8136490:G:A p.(His414=) NC_000019.10:8136490:G:A Identity +NM_001304482.2:c.1656C>T NP_001291411.1:p.Phe552= NC_000003.12:47409738:C:T p.(Phe552=) NC_000003.12:47409738:C:T p.(Phe552=) NC_000003.12:47409738:C:T Identity +NM_001142864.4:c.2283G>A NP_001136336.2:p.Glu761= NC_000016.10:88733951:C:T p.(Glu761=) NC_000016.10:88733951:C:T p.(Glu761=) NC_000016.10:88733951:C:T Identity +NM_001270507.2:c.2094G>T NP_001257436.1:p.Ser698= NC_000006.12:137881039:G:T p.(Ser698=) NC_000006.12:137881039:G:T p.(Ser698=) NC_000006.12:137881039:G:T Identity +NM_001113178.3:c.2676G>C NP_001106649.1:p.Thr892= NC_000016.10:69692503:G:C p.(Thr892=) NC_000016.10:69692503:G:C p.(Thr892=) NC_000016.10:69692503:G:C Identity +NM_001080449.3:c.246T>G NP_001073918.2:p.Leu82= NC_000010.11:68469991:A:C p.(Leu82=) NC_000010.11:68469991:A:C p.(Leu82=) NC_000010.11:68469991:A:C Identity +NM_005112.5:c.225C>T NP_005103.2:p.Ile75= NC_000004.12:10088364:G:A p.(Ile75=) NC_000004.12:10088364:G:A p.(Ile75=) NC_000004.12:10088364:G:A Identity +NM_020778.5:c.1290G>A NP_065829.4:p.Gly430= NC_000015.10:84840568:G:A p.(Gly430=) NC_000015.10:84840568:G:A p.(Gly430=) NC_000015.10:84840568:G:A Identity +NM_001135649.3:c.528C>T NP_001129121.1:p.Ala176= NC_000002.12:88452007:G:A p.(Ala176=) NC_000002.12:88452007:G:A p.(Ala176=) NC_000002.12:88452007:G:A Identity +NM_004994.3:c.1023C>T NP_004985.2:p.Asn341= NC_000020.11:46012161:C:T p.(Asn341=) NC_000020.11:46012161:C:T p.(Asn341=) NC_000020.11:46012161:C:T Identity +NM_001305942.2:c.81C>T NP_001292871.2:p.Leu27= NC_000009.12:128323025:C:T p.(Leu27=) NC_000009.12:128323025:C:T p.(Leu27=) NC_000009.12:128323025:C:T Identity +NM_001177310.2:c.3699G>A NP_001170781.1:p.Leu1233= NC_000009.12:74762956:C:T p.(Leu1233=) NC_000009.12:74762956:C:T p.(Leu1233=) NC_000009.12:74762956:C:T Identity +NM_002181.4:c.645G>A NP_002172.2:p.Gly215= NC_000002.12:219055797:C:T p.(Gly215=) NC_000002.12:219055797:C:T p.(Gly215=) NC_000002.12:219055797:C:T Identity +NM_000346.4:c.81C>G NP_000337.1:p.Ser27= NC_000017.11:72121471:C:G p.(Ser27=) NC_000017.11:72121471:C:G p.(Ser27=) NC_000017.11:72121471:C:G Identity +NM_001080517.3:c.3687A>T NP_001073986.1:p.Ala1229= NC_000003.12:9475122:A:T p.(Ala1229=) NC_000003.12:9475122:A:T p.(Ala1229=) NC_000003.12:9475122:A:T Identity +NM_000836.4:c.597C>T NP_000827.2:p.Ala199= NC_000019.10:48404864:C:T p.(Ala199=) NC_000019.10:48404864:C:T p.(Ala199=) NC_000019.10:48404864:C:T Identity +NM_003737.4:c.2352C>T NP_003728.1:p.Thr784= NC_000011.10:6633514:G:A p.(Thr784=) NC_000011.10:6633514:G:A p.(Thr784=) NC_000011.10:6633514:G:A Identity +NM_003906.5:c.4992T>G NP_003897.2:p.Ala1664= NC_000021.9:46244852:A:C p.(Ala1664=) NC_000021.9:46244852:A:C p.(Ala1664=) NC_000021.9:46244852:A:C Identity +NM_001098511.3:c.1752A>G NP_001091981.1:p.Ser584= NC_000005.10:62372542:A:G p.(Ser584=) NC_000005.10:62372542:A:G p.(Ser584=) NC_000005.10:62372542:A:G Identity +NM_002473.6:c.3549C>T NP_002464.1:p.His1183= NC_000022.11:36295012:G:A p.(His1183=) NC_000022.11:36295012:G:A p.(His1183=) NC_000022.11:36295012:G:A Identity +NM_001171087.3:c.621T>C NP_001164558.1:p.Pro207= NC_000003.12:184357850:A:G p.(Pro207=) NC_000003.12:184357850:A:G p.(Pro207=) NC_000003.12:184357850:A:G Identity +NM_001271667.2:c.639G>A NP_001258596.1:p.Lys213= NC_000006.12:15523148:C:T p.(Lys213=) NC_000006.12:15523148:C:T p.(Lys213=) NC_000006.12:15523148:C:T Identity +NM_001099403.2:c.1566G>A NP_001092873.1:p.Ala522= NC_000004.12:80203027:G:A p.(Ala522=) NC_000004.12:80203027:G:A p.(Ala522=) NC_000004.12:80203027:G:A Identity +NM_006662.3:c.2853G>C NP_006653.2:p.Leu951= NC_000016.10:30720196:G:C p.(Leu951=) NC_000016.10:30720196:G:C p.(Leu951=) NC_000016.10:30720196:G:C Identity +NM_005914.4:c.2412A>G NP_005905.2:p.Ala804= NC_000008.11:47975760:A:G p.(Ala804=) NC_000008.11:47975760:A:G p.(Ala804=) NC_000008.11:47975760:A:G Identity +NM_001318360.2:c.3264G>T NP_001305289.1:p.Arg1088= NC_000009.12:108878716:C:A p.(Arg1088=) NC_000009.12:108878716:C:A p.(Arg1088=) NC_000009.12:108878716:C:A Identity +NM_001177310.2:c.5490A>G NP_001170781.1:p.Arg1830= NC_000009.12:74739431:T:C p.(Arg1830=) NC_000009.12:74739431:T:C p.(Arg1830=) NC_000009.12:74739431:T:C Identity +NM_000381.4:c.144G>A NP_000372.1:p.Val48= NC_000023.11:10567403:C:T p.(Val48=) NC_000023.11:10567403:C:T p.(Val48=) NC_000023.11:10567403:C:T Identity +NM_001330360.2:c.813G>A NP_001317289.1:p.Leu271= NC_000023.11:24717395:G:A p.(Leu271=) NC_000023.11:24717395:G:A p.(Leu271=) NC_000023.11:24717395:G:A Identity +NM_001142605.2:c.1914G>A NP_001136077.1:p.Lys638= NC_000017.11:44857100:C:T p.(Lys638=) NC_000017.11:44857100:C:T p.(Lys638=) NC_000017.11:44857100:C:T Identity +NM_001348181.2:c.2385A>G NP_001335110.1:p.Pro795= NC_000002.12:24261670:T:C p.(Pro795=) NC_000002.12:24261670:T:C p.(Pro795=) NC_000002.12:24261670:T:C Identity +NM_018109.4:c.1683A>G NP_060579.3:p.Leu561= NC_000010.11:30313674:T:C p.(Leu561=) NC_000010.11:30313674:T:C p.(Leu561=) NC_000010.11:30313674:T:C Identity +NM_001306142.2:c.255G>A NP_001293071.1:p.Ala85= NC_000004.12:8871359:C:T p.(Ala85=) NC_000004.12:8871359:C:T p.(Ala85=) NC_000004.12:8871359:C:T Identity +NM_001315529.2:c.2538T>C NP_001302458.1:p.His846= NC_000021.9:46366865:T:C p.(His846=) NC_000021.9:46366865:T:C p.(His846=) NC_000021.9:46366865:T:C Identity +NM_001365023.1:c.1233C>T NP_001351952.1:p.His411= NC_000009.12:74671876:C:T p.(His411=) NC_000009.12:74671876:C:T p.(His411=) NC_000009.12:74671876:C:T Identity +NM_031310.3:c.642C>T NP_112600.1:p.Ala214= NC_000019.10:17365822:G:A p.(Ala214=) NC_000019.10:17365822:G:A p.(Ala214=) NC_000019.10:17365822:G:A Identity +NM_014239.4:c.390G>A NP_055054.1:p.Gln130= NC_000014.9:75003655:G:A p.(Gln130=) NC_000014.9:75003655:G:A p.(Gln130=) NC_000014.9:75003655:G:A Identity +NM_173354.5:c.1515T>G NP_775490.2:p.Ser505= NC_000021.9:43418488:A:C p.(Ser505=) NC_000021.9:43418488:A:C p.(Ser505=) NC_000021.9:43418488:A:C Identity +NM_001128204.2:c.2178G>A NP_001121676.1:p.Glu726= NC_000008.11:69629572:G:A p.(Glu726=) NC_000008.11:69629572:G:A p.(Glu726=) NC_000008.11:69629572:G:A Identity +NM_001135999.2:c.339A>G NP_001129471.2:p.Gly113= NC_000009.12:35546859:A:G p.(Gly113=) NC_000009.12:35546859:A:G p.(Gly113=) NC_000009.12:35546859:A:G Identity +NM_000022.4:c.910C>T NP_000013.2:p.Leu304= NC_000020.11:44621082:G:A p.(Leu304=) NC_000020.11:44621082:G:A p.(Leu304=) NC_000020.11:44621082:G:A Identity +NM_021800.3:c.6T>C NP_068572.1:p.Asp2= NC_000010.11:67838005:A:G p.(Asp2=) NC_000010.11:67838005:A:G p.(Asp2=) NC_000010.11:67838005:A:G Identity +NM_007055.4:c.3720T>C NP_008986.2:p.Gly1240= NC_000010.11:77982192:A:G p.(Gly1240=) NC_000010.11:77982192:A:G p.(Gly1240=) NC_000010.11:77982192:A:G Identity +NM_001372.4:c.7263C>T NP_001363.2:p.Tyr2421= NC_000017.11:11768544:C:T p.(Tyr2421=) NC_000017.11:11768544:C:T p.(Tyr2421=) NC_000017.11:11768544:C:T Identity +NM_000038.6:c.249T>C NP_000029.2:p.Pro83= NC_000005.10:112767216:T:C p.(Pro83=) NC_000005.10:112767216:T:C p.(Pro83=) NC_000005.10:112767216:T:C Identity +NM_001146282.2:c.681G>T NP_001139754.1:p.Gly227= NC_000014.9:35013843:G:T p.(Gly227=) NC_000014.9:35013843:G:T p.(Gly227=) NC_000014.9:35013843:G:T Identity +NM_001411087.1:c.1686G>A NP_001398016.1:p.Ala562= NC_000019.10:45037744:G:A p.(Ala562=) NC_000019.10:45037744:G:A p.(Ala562=) NC_000019.10:45037744:G:A Identity +NM_000828.5:c.2049C>T NP_000819.4:p.Asp683= NC_000023.11:123428111:C:T p.(Asp683=) NC_000023.11:123428111:C:T p.(Asp683=) NC_000023.11:123428111:C:T Identity +NM_001348729.2:c.2340T>C NP_001335658.1:p.Cys780= NC_000002.12:8779706:A:G p.(Cys780=) NC_000002.12:8779706:A:G p.(Cys780=) NC_000002.12:8779706:A:G Identity +NM_025074.7:c.7374A>C NP_079350.5:p.Ala2458= NC_000004.12:78472181:A:C p.(Ala2458=) NC_000004.12:78472181:A:C p.(Ala2458=) NC_000004.12:78472181:A:C Identity +NM_001178129.2:c.2100T>C NP_001171600.1:p.Arg700= NC_000007.14:83367633:A:G p.(Arg700=) NC_000007.14:83367633:A:G p.(Arg700=) NC_000007.14:83367633:A:G Identity +NM_031407.7:c.7707C>G NP_113584.3:p.Arg2569= NC_000023.11:53560216:G:C p.(Arg2569=) NC_000023.11:53560216:G:C p.(Arg2569=) NC_000023.11:53560216:G:C Identity +NM_001719.3:c.30G>A NP_001710.1:p.Ala10= NC_000020.11:57266092:C:T p.(Ala10=) NC_000020.11:57266092:C:T p.(Ala10=) NC_000020.11:57266092:C:T Identity +NM_001243251.2:c.534A>G NP_001230180.1:p.Gly178= NC_000011.10:78443707:T:C p.(Gly178=) NC_000011.10:78443707:T:C p.(Gly178=) NC_000011.10:78443707:T:C Identity +NM_001220.5:c.1509C>G NP_001211.3:p.Gly503= NC_000007.14:44226603:G:C p.(Gly503=) NC_000007.14:44226603:G:C p.(Gly503=) NC_000007.14:44226603:G:C Identity +NM_001346897.2:c.1842G>C NP_001333826.1:p.Val614= NC_000007.14:55173039:G:C p.(Val614=) NC_000007.14:55173039:G:C p.(Val614=) NC_000007.14:55173039:G:C Identity +NM_001321307.1:c.3276C>A NP_001308236.1:p.Ser1092= NC_000011.10:108161830:G:T p.(Ser1092=) NC_000011.10:108161830:G:T p.(Ser1092=) NC_000011.10:108161830:G:T Identity +NM_001127218.3:c.504C>T NP_001120690.1:p.Asp168= NC_000007.14:44117209:G:A p.(Asp168=) NC_000007.14:44117209:G:A p.(Asp168=) NC_000007.14:44117209:G:A Identity +NM_001317163.2:c.4890C>T NP_001304092.1:p.Ala1630= NC_000009.12:120953758:G:A p.(Ala1630=) NC_000009.12:120953758:G:A p.(Ala1630=) NC_000009.12:120953758:G:A Identity +NM_005733.3:c.1842A>G NP_005724.1:p.Gln614= NC_000005.10:138185112:A:G p.(Gln614=) NC_000005.10:138185112:A:G p.(Gln614=) NC_000005.10:138185112:A:G Identity +NM_033550.4:c.675C>T NP_291028.3:p.Tyr225= NC_000020.11:46686839:G:A p.(Tyr225=) NC_000020.11:46686839:G:A p.(Tyr225=) NC_000020.11:46686839:G:A Identity +NM_001354263.2:c.3684C>T NP_001341192.1:p.Gly1228= NC_000009.12:137834512:C:T p.(Gly1228=) NC_000009.12:137834512:C:T p.(Gly1228=) NC_000009.12:137834512:C:T Identity +NM_020451.3:c.1158C>T NP_065184.2:p.Ile386= NC_000001.11:25811755:C:T p.(Ile386=) NC_000001.11:25811755:C:T p.? NC_000001.11:25811755:C:T Identity +NM_031407.7:c.999A>G NP_113584.3:p.Ser333= NC_000023.11:53628866:T:C p.(Ser333=) NC_000023.11:53628866:T:C p.(Ser333=) NC_000023.11:53628866:T:C Identity +NM_001382361.1:c.450G>A NP_001369290.1:p.Lys150= NC_000011.10:64211106:G:A p.(Lys150=) NC_000011.10:64211106:G:A p.(Lys150=) NC_000011.10:64211106:G:A Identity +NM_001207000.1:c.321T>C NP_001193929.1:p.Thr107= NC_000004.12:82429369:A:G p.(Thr107=) NC_000004.12:82429369:A:G p.(Thr107=) NC_000004.12:82429369:A:G Identity +NM_005249.5:c.1047G>A NP_005240.3:p.Ser349= NC_000014.9:28768325:G:A p.(Ser349=) NC_000014.9:28768325:G:A p.(Ser349=) NC_000014.9:28768325:G:A Identity +NM_001737.5:c.753T>C NP_001728.1:p.Ala251= NC_000005.10:39315891:A:G p.(Ala251=) NC_000005.10:39315891:A:G p.(Ala251=) NC_000005.10:39315891:A:G Identity +NM_001165255.2:c.357G>A NP_001158727.1:p.Glu119= NC_000007.14:157005732:C:T p.(Glu119=) NC_000007.14:157005732:C:T p.(Glu119=) NC_000007.14:157005732:C:T Identity +NM_001136504.1:c.648G>A NP_001129976.1:p.Glu216= NC_000001.11:202602042:C:T p.(Glu216=) NC_000001.11:202602042:C:T p.(Glu216=) NC_000001.11:202602042:C:T Identity +NM_020949.3:c.654T>C NP_066000.2:p.Asn218= NC_000003.12:170498771:A:G p.(Asn218=) NC_000003.12:170498771:A:G p.(Asn218=) NC_000003.12:170498771:A:G Identity +NM_001127244.2:c.1020G>T NP_001120716.1:p.Leu340= NC_000009.12:128908183:G:T p.(Leu340=) NC_000009.12:128908183:G:T p.(Leu340=) NC_000009.12:128908183:G:T Identity +NM_004946.3:c.1545A>G NP_004937.1:p.Ser515= NC_000005.10:169711996:A:G p.(Ser515=) NC_000005.10:169711996:A:G p.(Ser515=) NC_000005.10:169711996:A:G Identity +NM_001351846.2:c.810G>C NP_001338775.1:p.Gly270= NC_000016.10:1497487:G:C p.(Gly270=) NC_000016.10:1497487:G:C p.(Gly270=) NC_000016.10:1497487:G:C Identity +NM_001355186.2:c.78A>G NP_001342115.1:p.Thr26= NC_000003.12:43699305:A:G p.(Thr26=) NC_000003.12:43699305:A:G p.(Thr26=) NC_000003.12:43699305:A:G Identity +NM_031935.3:c.7059T>C NP_114141.2:p.Ile2353= NC_000001.11:186055588:T:C p.(Ile2353=) NC_000001.11:186055588:T:C p.(Ile2353=) NC_000001.11:186055588:T:C Identity +NM_000428.3:c.156A>T NP_000419.1:p.Arg52= NC_000014.9:74611788:T:A p.(Arg52=) NC_000014.9:74611788:T:A p.(Arg52=) NC_000014.9:74611788:T:A Identity +NM_001318369.2:c.280T>C NP_001305298.1:p.Leu94= NC_000011.10:20607648:T:C p.(Leu94=) NC_000011.10:20607648:T:C p.(Leu94=) NC_000011.10:20607648:T:C Identity +NM_001379277.1:c.3256T>C NP_001366206.1:p.Leu1086= NC_000007.14:92083619:T:C p.(Leu1086=) NC_000007.14:92083619:T:C p.(Leu1086=) NC_000007.14:92083619:T:C Identity +NM_000720.4:c.63G>T NP_000711.1:p.Ala21= NC_000003.12:53495228:G:T p.(Ala21=) NC_000003.12:53495228:G:T p.(Ala21=) NC_000003.12:53495228:G:T Identity +NM_001278669.2:c.1695C>T NP_001265598.1:p.Arg565= NC_000018.10:79451058:C:T p.(Arg565=) NC_000018.10:79451058:C:T p.(Arg565=) NC_000018.10:79451058:C:T Identity +NM_000217.3:c.1089C>T NP_000208.2:p.Phe363= NC_000012.12:4912466:C:T p.(Phe363=) NC_000012.12:4912466:C:T p.(Phe363=) NC_000012.12:4912466:C:T Identity +NM_025074.7:c.10818C>T NP_079350.5:p.Tyr3606= NC_000004.12:78526549:C:T p.(Tyr3606=) NC_000004.12:78526549:C:T p.(Tyr3606=) NC_000004.12:78526549:C:T Identity +NM_001003841.3:c.621C>T NP_001003841.1:p.Val207= NC_000005.10:1212441:C:T p.(Val207=) NC_000005.10:1212441:C:T p.(Val207=) NC_000005.10:1212441:C:T Identity +NM_006662.3:c.1875G>A NP_006653.2:p.Gly625= NC_000016.10:30712320:G:A p.(Gly625=) NC_000016.10:30712320:G:A p.(Gly625=) NC_000016.10:30712320:G:A Identity +NM_001130823.3:c.2802T>C NP_001124295.1:p.Asp934= NC_000019.10:10146442:A:G p.(Asp934=) NC_000019.10:10146442:A:G p.(Asp934=) NC_000019.10:10146442:A:G Identity +NM_001256876.3:c.633_634delinsTA NP_001243805.1:p.Gln211_Leu212delinsHisIle NC_000009.12:711398:GC:TA p.(Gln211_Leu212delinsHisIle) NC_000009.12:711398:GC:TA p.(Gln211_Leu212delinsHisIle) NC_000009.12:711398:GC:TA Identity +NM_001122752.2:c.531T>C NP_001116224.1:p.Tyr177= NC_000003.12:167792638:T:C p.(Tyr177=) NC_000003.12:167792638:T:C p.(Tyr177=) NC_000003.12:167792638:T:C Identity +NM_000701.8:c.996G>A NP_000692.2:p.Val332= NC_000001.11:116389679:G:A p.(Val332=) NC_000001.11:116389679:G:A p.(Val332=) NC_000001.11:116389679:G:A Identity +NM_005188.4:c.306T>C NP_005179.2:p.Tyr102= NC_000011.10:119232557:T:C p.(Tyr102=) NC_000011.10:119232557:T:C p.(Tyr102=) NC_000011.10:119232557:T:C Identity +NM_001002295.2:c.402C>T NP_001002295.1:p.Pro134= NC_000010.11:8058464:C:T p.(Pro134=) NC_000010.11:8058464:C:T p.(Pro134=) NC_000010.11:8058464:C:T Identity +NM_022114.4:c.2130G>C NP_071397.3:p.Gly710= NC_000001.11:3412326:G:C p.(Gly710=) NC_000001.11:3412326:G:C p.(Gly710=) NC_000001.11:3412326:G:C Identity +NM_001121.4:c.1854C>T NP_001112.2:p.Ser618= NC_000010.11:110133446:C:T p.(Ser618=) NC_000010.11:110133446:C:T p.(Ser618=) NC_000010.11:110133446:C:T Identity +NM_001199.4:c.519C>T NP_001190.1:p.Asp173= NC_000008.11:22176617:C:T p.(Asp173=) NC_000008.11:22176617:C:T p.(Asp173=) NC_000008.11:22176617:C:T Identity +NM_031935.3:c.15057G>A NP_114141.2:p.Gln5019= NC_000001.11:186153787:G:A p.(Gln5019=) NC_000001.11:186153787:G:A p.(Gln5019=) NC_000001.11:186153787:G:A Identity +NM_001367624.2:c.9471G>A NP_001354553.1:p.Glu3157= NC_000016.10:88436940:G:A p.(Glu3157=) NC_000016.10:88436940:G:A p.(Glu3157=) NC_000016.10:88436940:G:A Identity +NM_000065.5:c.2322G>A NP_000056.2:p.Gln774= NC_000005.10:41149993:C:T p.(Gln774=) NC_000005.10:41149993:C:T p.(Gln774=) NC_000005.10:41149993:C:T Identity +NM_001376.5:c.1326G>A NP_001367.2:p.Arg442= NC_000014.9:101983473:G:A p.(Arg442=) NC_000014.9:101983473:G:A p.(Arg442=) NC_000014.9:101983473:G:A Identity +NM_001033053.3:c.867C>G NP_001028225.1:p.Pro289= NC_000017.11:5559828:G:C p.(Pro289=) NC_000017.11:5559828:G:C p.(Pro289=) NC_000017.11:5559828:G:C Identity +NM_001198798.2:c.720A>G NP_001185727.1:p.Lys240= NC_000010.11:72152894:T:C p.(Lys240=) NC_000010.11:72152894:T:C p.(Lys240=) NC_000010.11:72152894:T:C Identity +NM_001184976.2:c.1179C>T NP_001171905.1:p.Asp393= NC_000012.12:54517928:C:T p.(Asp393=) NC_000012.12:54517928:C:T p.(Asp393=) NC_000012.12:54517928:C:T Identity +NM_001414244.1:c.4467C>G NP_001401173.1:p.Pro1489= NC_000012.12:12125370:G:C p.(Pro1489=) NC_000012.12:12125370:G:C p.(Pro1489=) NC_000012.12:12125370:G:C Identity +NM_001136029.4:c.1965T>G NP_001129501.1:p.Ser655= NC_000022.11:31821595:T:G p.(Ser655=) NC_000022.11:31821595:T:G p.(Ser655=) NC_000022.11:31821595:T:G Identity +NM_001379141.1:c.4201C>A NP_001366070.1:p.Arg1401= NC_000018.10:45063107:C:A p.(Arg1401=) NC_000018.10:45063107:C:A p.(Arg1401=) NC_000018.10:45063107:C:A Identity +NM_001018073.3:c.882G>A NP_001018083.2:p.Lys294= NC_000014.9:24099586:G:A p.(Lys294=) NC_000014.9:24099586:G:A p.(Lys294=) NC_000014.9:24099586:G:A Identity +NM_003922.4:c.5406G>T NP_003913.3:p.Thr1802= NC_000015.10:63694385:C:A p.(Thr1802=) NC_000015.10:63694385:C:A p.(Thr1802=) NC_000015.10:63694385:C:A Identity +NM_001852.4:c.1713C>A NP_001843.1:p.Gly571= NC_000001.11:40302699:G:T p.(Gly571=) NC_000001.11:40302699:G:T p.(Gly571=) NC_000001.11:40302699:G:T Identity +NM_001365684.2:c.6327C>T NP_001352613.2:p.Pro2109= NC_000005.10:177294567:C:T p.(Pro2109=) NC_000005.10:177294567:C:T p.(Pro2109=) NC_000005.10:177294567:C:T Identity +NM_001363725.2:c.222T>C NP_001350654.1:p.Ser74= NC_000006.12:157133166:T:C p.(Ser74=) NC_000006.12:157133166:T:C p.(Ser74=) NC_000006.12:157133166:T:C Identity +NM_001191028.3:c.1797C>T NP_001177957.2:p.Cys599= NC_000007.14:128979054:G:A p.(Cys599=) NC_000007.14:128979054:G:A p.(Cys599=) NC_000007.14:128979054:G:A Identity +NM_015560.3:c.342A>G NP_056375.2:p.Thr114= NC_000003.12:193615031:A:G p.(Thr114=) NC_000003.12:193615031:A:G p.(Thr114=) NC_000003.12:193615031:A:G Identity +NM_001203263.2:c.2007G>A NP_001190192.2:p.Glu669= NC_000003.12:9933475:G:A p.(Glu669=) NC_000003.12:9933475:G:A p.(Glu669=) NC_000003.12:9933475:G:A Identity +NM_001289396.2:c.4554A>G NP_001276325.1:p.Glu1518= NC_000009.12:2186187:A:G p.(Glu1518=) NC_000009.12:2186187:A:G p.(Glu1518=) NC_000009.12:2186187:A:G Identity +NM_001286414.3:c.1887T>C NP_001273343.1:p.Ile629= NC_000015.10:43404447:T:C p.(Ile629=) NC_000015.10:43404447:T:C p.(Ile629=) NC_000015.10:43404447:T:C Identity +NM_001134335.2:c.438C>A NP_001127807.1:p.Ile146= NC_000007.14:6048817:G:T p.(Ile146=) NC_000007.14:6048817:G:T p.(Ile146=) NC_000007.14:6048817:G:T Identity +NM_001085049.3:c.240A>G NP_001078518.1:p.Gln80= NC_000003.12:138397369:A:G p.(Gln80=) NC_000003.12:138397369:A:G p.(Gln80=) NC_000003.12:138397369:A:G Identity +NM_006766.5:c.5574C>T NP_006757.2:p.Arg1858= NC_000008.11:41932645:G:A p.(Arg1858=) NC_000008.11:41932645:G:A p.(Arg1858=) NC_000008.11:41932645:G:A Identity +NM_173354.5:c.1806G>A NP_775490.2:p.Leu602= NC_000021.9:43417712:C:T p.(Leu602=) NC_000021.9:43417712:C:T p.(Leu602=) NC_000021.9:43417712:C:T Identity +NM_001243254.2:c.1645A>C NP_001230183.1:p.Arg549= NC_000011.10:9178883:T:G p.(Arg549=) NC_000011.10:9178883:T:G p.(Arg549=) NC_000011.10:9178883:T:G Identity +NM_000718.4:c.3252G>A NP_000709.1:p.Leu1084= NC_000009.12:138025137:G:A p.(Leu1084=) NC_000009.12:138025137:G:A p.(Leu1084=) NC_000009.12:138025137:G:A Identity +NM_000540.3:c.14544C>G NP_000531.2:p.Val4848= NC_000019.10:38580401:C:G p.(Val4848=) NC_000019.10:38580401:C:G p.(Val4848=) NC_000019.10:38580401:C:G Identity +NM_001414244.1:c.2428C>T NP_001401173.1:p.Leu810= NC_000012.12:12159815:G:A p.(Leu810=) NC_000012.12:12159815:G:A p.(Leu810=) NC_000012.12:12159815:G:A Identity +NM_001411138.1:c.474A>G NP_001398067.1:p.Gly158= NC_000019.10:13913262:A:G p.(Gly158=) NC_000019.10:13913262:A:G p.(Gly158=) NC_000019.10:13913262:A:G Identity +NM_000402.4:c.900G>A NP_000393.4:p.Leu300= NC_000023.11:154533629:C:T p.(Leu300=) NC_000023.11:154533629:C:T p.(Leu300=) NC_000023.11:154533629:C:T Identity +NM_000453.3:c.660C>A NP_000444.1:p.Leu220= NC_000019.10:17876067:C:A p.(Leu220=) NC_000019.10:17876067:C:A p.(Leu220=) NC_000019.10:17876067:C:A Identity +NM_021629.4:c.435C>T NP_067642.1:p.Tyr145= NC_000003.12:179413776:G:A p.(Tyr145=) NC_000003.12:179413776:G:A p.(Tyr145=) NC_000003.12:179413776:G:A Identity +NM_001291285.3:c.2844T>C NP_001278214.1:p.Thr948= NC_000004.12:125319254:T:C p.(Thr948=) NC_000004.12:125319254:T:C p.(Thr948=) NC_000004.12:125319254:T:C Identity +NM_000381.4:c.1530G>A NP_000372.1:p.Glu510= NC_000023.11:10454994:C:T p.(Glu510=) NC_000023.11:10454994:C:T p.(Glu510=) NC_000023.11:10454994:C:T Identity +NM_017780.4:c.3207A>G NP_060250.2:p.Arg1069= NC_000008.11:60823844:A:G p.(Arg1069=) NC_000008.11:60823844:A:G p.(Arg1069=) NC_000008.11:60823844:A:G Identity +NM_001174116.3:c.8859C>G NP_001167587.1:p.Pro2953= NC_000015.10:51450173:G:C p.(Pro2953=) NC_000015.10:51450173:G:C p.(Pro2953=) NC_000015.10:51450173:G:C Identity +NM_000720.4:c.2226C>G NP_000711.1:p.Ser742= NC_000003.12:53726943:C:G p.(Ser742=) NC_000003.12:53726943:C:G p.(Ser742=) NC_000003.12:53726943:C:G Identity +NM_003482.4:c.9594C>G NP_003473.3:p.Pro3198= NC_000012.12:49037761:G:C p.(Pro3198=) NC_000012.12:49037761:G:C p.(Pro3198=) NC_000012.12:49037761:G:C Identity +NM_006445.4:c.4014C>T NP_006436.3:p.Ser1338= NC_000017.11:1661913:G:A p.(Ser1338=) NC_000017.11:1661913:G:A p.(Ser1338=) NC_000017.11:1661913:G:A Identity +NM_001414244.1:c.4812C>A NP_001401173.1:p.Pro1604= NC_000012.12:12121248:G:T p.(Pro1604=) NC_000012.12:12121248:G:T p.(Pro1604=) NC_000012.12:12121248:G:T Identity +NM_175875.5:c.477C>T NP_787071.3:p.Phe159= NC_000019.10:45768367:G:A p.(Phe159=) NC_000019.10:45768367:G:A p.(Phe159=) NC_000019.10:45768367:G:A Identity +NM_006662.3:c.8304G>A NP_006653.2:p.Arg2768= NC_000016.10:30738343:G:A p.(Arg2768=) NC_000016.10:30738343:G:A p.(Arg2768=) NC_000016.10:30738343:G:A Identity +NM_031935.3:c.8541A>G NP_114141.2:p.Thr2847= NC_000001.11:186078161:A:G p.(Thr2847=) NC_000001.11:186078161:A:G p.(Thr2847=) NC_000001.11:186078161:A:G Identity +NM_001197104.2:c.1854G>A NP_001184033.1:p.Arg618= NC_000011.10:118473012:G:A p.(Arg618=) NC_000011.10:118473012:G:A p.(Arg618=) NC_000011.10:118473012:G:A Identity +NM_000301.5:c.2292G>T NP_000292.1:p.Leu764= NC_000006.12:160752919:G:T p.(Leu764=) NC_000006.12:160752919:G:T p.(Leu764=) NC_000006.12:160752919:G:T Identity +NM_001046.3:c.3108C>T NP_001037.1:p.Thr1036= NC_000005.10:128180889:C:T p.(Thr1036=) NC_000005.10:128180889:C:T p.(Thr1036=) NC_000005.10:128180889:C:T Identity +NM_198578.4:c.4029T>A NP_940980.4:p.Thr1343= NC_000012.12:40308535:T:A p.(Thr1343=) NC_000012.12:40308535:T:A p.(Thr1343=) NC_000012.12:40308535:T:A Identity +NM_173648.4:c.3342C>A NP_775919.3:p.Leu1114= NC_000002.12:178850063:G:T p.(Leu1114=) NC_000002.12:178850063:G:T p.(Leu1114=) NC_000002.12:178850063:G:T Identity +NM_001207047.3:c.1185C>T NP_001193976.1:p.Thr395= NC_000020.11:3562360:C:T p.(Thr395=) NC_000020.11:3562360:C:T p.(Thr395=) NC_000020.11:3562360:C:T Identity +NM_001080449.3:c.213A>G NP_001073918.2:p.Ser71= NC_000010.11:68470024:T:C p.(Ser71=) NC_000010.11:68470024:T:C p.(Ser71=) NC_000010.11:68470024:T:C Identity +NM_022049.3:c.750C>T NP_071332.2:p.Ala250= NC_000001.11:100539715:C:T p.(Ala250=) NC_000001.11:100539715:C:T p.(Ala250=) NC_000001.11:100539715:C:T Identity +NM_001278511.2:c.1065C>A NP_001265440.1:p.Pro355= NC_000015.10:82679749:G:T p.(Pro355=) NC_000015.10:82679749:G:T p.(Pro355=) NC_000015.10:82679749:G:T Identity +NM_152305.3:c.24G>C NP_689518.1:p.Pro8= NC_000003.12:119469044:G:C p.(Pro8=) NC_000003.12:119469044:G:C p.(Pro8=) NC_000003.12:119469044:G:C Identity +NM_012193.4:c.1032C>T NP_036325.2:p.Ser344= NC_000011.10:86951723:G:A p.(Ser344=) NC_000011.10:86951723:G:A p.(Ser344=) NC_000011.10:86951723:G:A Identity +NM_001039590.3:c.5469C>T NP_001034679.2:p.Asp1823= NC_000023.11:41216035:C:T p.(Asp1823=) NC_000023.11:41216035:C:T p.(Asp1823=) NC_000023.11:41216035:C:T Identity +NM_006766.5:c.4212A>G NP_006757.2:p.Glu1404= NC_000008.11:41934007:T:C p.(Glu1404=) NC_000008.11:41934007:T:C p.(Glu1404=) NC_000008.11:41934007:T:C Identity +NM_000234.3:c.30C>T NP_000225.1:p.His10= NC_000019.10:48162338:G:A p.(His10=) NC_000019.10:48162338:G:A p.(His10=) NC_000019.10:48162338:G:A Identity +NM_006929.5:c.3651A>G NP_008860.4:p.Val1217= NC_000006.12:31969624:A:G p.(Val1217=) NC_000006.12:31969624:A:G p.(Val1217=) NC_000006.12:31969624:A:G Identity +NM_001440.4:c.471C>T NP_001431.1:p.Ile157= NC_000008.11:28716529:C:T p.(Ile157=) NC_000008.11:28716529:C:T p.(Ile157=) NC_000008.11:28716529:C:T Identity +NM_001190799.2:c.1857A>G NP_001177728.1:p.Pro619= NC_000004.12:127891595:A:G p.(Pro619=) NC_000004.12:127891595:A:G p.(Pro619=) NC_000004.12:127891595:A:G Identity +NM_001170629.2:c.7179A>G NP_001164100.1:p.Lys2393= NC_000014.9:21390949:T:C p.(Lys2393=) NC_000014.9:21390949:T:C p.(Lys2393=) NC_000014.9:21390949:T:C Identity +NM_033109.5:c.423C>G NP_149100.2:p.Leu141= NC_000002.12:55683814:G:C p.(Leu141=) NC_000002.12:55683814:G:C p.(Leu141=) NC_000002.12:55683814:G:C Identity +NM_001411087.1:c.468G>A NP_001398016.1:p.Glu156= NC_000019.10:45012248:G:A p.(Glu156=) NC_000019.10:45012248:G:A p.(Glu156=) NC_000019.10:45012248:G:A Identity +NM_005221.6:c.285T>C NP_005212.1:p.Tyr95= NC_000007.14:97024338:A:G p.(Tyr95=) NC_000007.14:97024338:A:G p.(Tyr95=) NC_000007.14:97024338:A:G Identity +NM_001354609.2:c.399A>T NP_001341538.1:p.Ser133= NC_000007.14:140834713:T:A p.(Ser133=) NC_000007.14:140834713:T:A p.(Ser133=) NC_000007.14:140834713:T:A Identity +NM_022167.4:c.1119C>T NP_071450.2:p.Leu373= NC_000017.11:50355810:C:T p.(Leu373=) NC_000017.11:50355810:C:T p.(Leu373=) NC_000017.11:50355810:C:T Identity +NM_014510.3:c.11658A>T NP_055325.2:p.Thr3886= NC_000007.14:82916327:T:A p.(Thr3886=) NC_000007.14:82916327:T:A p.(Thr3886=) NC_000007.14:82916327:T:A Identity +NM_153240.5:c.2013C>T NP_694972.3:p.Pro671= NC_000003.12:132697334:G:A p.(Pro671=) NC_000003.12:132697334:G:A p.(Pro671=) NC_000003.12:132697334:G:A Identity +NM_001303401.2:c.492A>G NP_001290330.1:p.Ala164= NC_000003.12:101731883:A:G p.(Ala164=) NC_000003.12:101731883:A:G p.(Ala164=) NC_000003.12:101731883:A:G Identity +NM_006929.5:c.3690T>C NP_008860.4:p.Ala1230= NC_000006.12:31969663:T:C p.(Ala1230=) NC_000006.12:31969663:T:C p.(Ala1230=) NC_000006.12:31969663:T:C Identity +NM_020778.5:c.4932T>C NP_065829.4:p.Ser1644= NC_000015.10:84868269:T:C p.(Ser1644=) NC_000015.10:84868269:T:C p.(Ser1644=) NC_000015.10:84868269:T:C Identity +NM_000193.4:c.282G>A NP_000184.1:p.Ala94= NC_000007.14:155811840:C:T p.(Ala94=) NC_000007.14:155811840:C:T p.(Ala94=) NC_000007.14:155811840:C:T Identity +NM_001256267.2:c.2883A>G NP_001243196.1:p.Pro961= NC_000010.11:68189083:A:G p.(Pro961=) NC_000010.11:68189083:A:G p.(Pro961=) NC_000010.11:68189083:A:G Identity +NM_001379291.1:c.3850_3855dup NP_001366220.1:p.Gln1285_Gln1286insGluGln NC_000019.10:15238907:CTGCTCCTG:CTGCTCCTGCTCCTG p.(Glu1284_Gln1285dup) NC_000019.10:15238907:CTGCTCCTG:CTGCTCCTGCTCCTG p.(Glu1284_Gln1285dup) ERR:SPDI Analogous +NM_031310.3:c.993C>T NP_112600.1:p.Ala331= NC_000019.10:17365471:G:A p.(Ala331=) NC_000019.10:17365471:G:A p.(Ala331=) NC_000019.10:17365471:G:A Identity +NM_001318219.1:c.81A>G NP_001305148.1:p.Glu27= NC_000020.11:35477983:A:G p.(Glu27=) NC_000020.11:35477983:A:G p.(Glu27=) NC_000020.11:35477983:A:G Identity +NM_020435.4:c.1035G>A NP_065168.2:p.Ala345= NC_000001.11:228158792:G:A p.(Ala345=) NC_000001.11:228158792:G:A p.(Ala345=) NC_000001.11:228158792:G:A Identity +NM_001271620.2:c.2769G>A NP_001258549.1:p.Lys923= NC_000016.10:49636202:C:T p.(Lys923=) NC_000016.10:49636202:C:T p.(Lys923=) NC_000016.10:49636202:C:T Identity +NM_001256213.2:c.2370C>T NP_001243142.1:p.Pro790= NC_000019.10:41970468:G:A p.(Pro790=) NC_000019.10:41970468:G:A p.(Pro790=) NC_000019.10:41970468:G:A Identity +NM_001184976.2:c.2064T>A NP_001171905.1:p.Ser688= NC_000012.12:54526584:T:A p.(Ser688=) NC_000012.12:54526584:T:A p.(Ser688=) NC_000012.12:54526584:T:A Identity +NM_001297709.2:c.258T>C NP_001284638.1:p.Ser86= NC_000012.12:8650548:A:G p.(Ser86=) NC_000012.12:8650548:A:G p.(Ser86=) NC_000012.12:8650548:A:G Identity +NM_001289396.2:c.2155C>T NP_001276325.1:p.Leu719= NC_000009.12:2077746:C:T p.(Leu719=) NC_000009.12:2077746:C:T p.(Leu719=) NC_000009.12:2077746:C:T Identity +NM_001168378.1:c.1107G>A NP_001161850.1:p.Val369= NC_000003.12:147390977:C:T p.(Val369=) NC_000003.12:147390977:C:T p.(Val369=) NC_000003.12:147390977:C:T Identity +NM_012318.3:c.165C>T NP_036450.1:p.Cys55= NC_000004.12:1841775:G:A p.(Cys55=) NC_000004.12:1841775:G:A p.(Cys55=) NC_000004.12:1841775:G:A Identity +NM_000921.5:c.475C>T NP_000912.3:p.Leu159= NC_000012.12:20369758:C:T p.(Leu159=) NC_000012.12:20369758:C:T p.(Leu159=) NC_000012.12:20369758:C:T Identity +NM_025009.5:c.2353T>C NP_079285.2:p.Leu785= NC_000004.12:56009750:T:C p.(Leu785=) NC_000004.12:56009750:T:C p.(Leu785=) NC_000004.12:56009750:T:C Identity +NM_000260.4:c.4758T>C NP_000251.3:p.Asn1586= NC_000011.10:77199723:T:C p.(Asn1586=) NC_000011.10:77199723:T:C p.(Asn1586=) NC_000011.10:77199723:T:C Identity +NM_001367624.2:c.831C>T NP_001354553.1:p.Phe277= NC_000016.10:88428300:C:T p.(Phe277=) NC_000016.10:88428300:C:T p.(Phe277=) NC_000016.10:88428300:C:T Identity +NM_001282526.2:c.579C>T NP_001269455.1:p.Asp193= NC_000020.11:18481638:C:T p.(Asp193=) NC_000020.11:18481638:C:T p.(Asp193=) NC_000020.11:18481638:C:T Identity +NM_001425750.1:c.867G>A NP_001412679.1:p.Glu289= NC_000016.10:81889272:G:A p.(Glu289=) NC_000016.10:81889272:G:A p.(Glu289=) NC_000016.10:81889272:G:A Identity +NM_000836.4:c.18C>A NP_000827.2:p.Gly6= NC_000019.10:48398409:C:A p.(Gly6=) NC_000019.10:48398409:C:A p.(Gly6=) NC_000019.10:48398409:C:A Identity +NM_001354609.2:c.2214C>T NP_001341538.1:p.Phe738= NC_000007.14:140734683:G:A p.(Phe738=) NC_000007.14:140734683:G:A p.(Phe738=) NC_000007.14:140734683:G:A Identity +NM_000228.3:c.2146C>A NP_000219.2:p.Arg716= NC_000001.11:209623716:G:T p.(Arg716=) NC_000001.11:209623716:G:T p.(Arg716=) NC_000001.11:209623716:G:T Identity +NM_001377498.1:c.771A>G NP_001364427.1:p.Pro257= NC_000002.12:219077299:T:C p.(Pro257=) NC_000002.12:219077299:T:C p.(Pro257=) NC_000002.12:219077299:T:C Identity +NM_006734.4:c.136C>A NP_006725.3:p.Arg46= NC_000006.12:142774602:G:T p.(Arg46=) NC_000006.12:142774602:G:T p.(Arg46=) NC_000006.12:142774602:G:T Identity +NM_003235.5:c.3585A>G NP_003226.4:p.Gly1195= NC_000008.11:132901503:A:G p.(Gly1195=) NC_000008.11:132901503:A:G p.(Gly1195=) NC_000008.11:132901503:A:G Identity +NM_001320892.2:c.177G>A NP_001307821.1:p.Pro59= NC_000002.12:25300138:C:T p.(Pro59=) NC_000002.12:25300138:C:T p.(Pro59=) NC_000002.12:25300138:C:T Identity +NM_017934.7:c.4833T>C NP_060404.4:p.Asp1611= NC_000006.12:78941325:A:G p.(Asp1611=) NC_000006.12:78941325:A:G p.(Asp1611=) NC_000006.12:78941325:A:G Identity +NM_000572.3:c.12A>G NP_000563.1:p.Ser4= NC_000001.11:206772423:T:C p.(Ser4=) NC_000001.11:206772423:T:C p.(Ser4=) NC_000001.11:206772423:T:C Identity +NM_001362843.2:c.4029T>G NP_001349772.1:p.Val1343= NC_000022.11:41168801:T:G p.(Val1343=) NC_000022.11:41168801:T:G p.(Val1343=) NC_000022.11:41168801:T:G Identity +NM_014804.3:c.123T>C NP_055619.2:p.Pro41= NC_000017.11:6628711:A:G p.(Pro41=) NC_000017.11:6628711:A:G p.(Pro41=) NC_000017.11:6628711:A:G Identity +NM_001376.5:c.5481_5486del NP_001367.2:p.Ser1828_Lys1829del NC_000014.9:102005931:CAAAAGCAA:CAA p.(Ser1828_Lys1829del) NC_000014.9:102005931:CAAAAGCAA:CAA p.(Ser1828_Lys1829del) NC_000014.9:102005934:AAGCAA: Identity +NM_013432.5:c.1941G>A NP_038460.4:p.Arg647= NC_000008.11:144436630:C:T p.(Arg647=) NC_000008.11:144436630:C:T p.(Arg647=) NC_000008.11:144436630:C:T Identity +NM_001122674.2:c.330T>C NP_001116146.1:p.Ile110= NC_000001.11:94468001:T:C p.(Ile110=) NC_000001.11:94468001:T:C p.(Ile110=) NC_000001.11:94468001:T:C Identity +NM_000428.3:c.5292G>A NP_000419.1:p.Gln1764= NC_000014.9:74501468:C:T p.(Gln1764=) NC_000014.9:74501468:C:T p.(Gln1764=) NC_000014.9:74501468:C:T Identity +NM_001207000.1:c.171C>T NP_001193929.1:p.Ala57= NC_000004.12:82429519:G:A p.(Ala57=) NC_000004.12:82429519:G:A p.(Ala57=) NC_000004.12:82429519:G:A Identity +NM_001289396.2:c.1968C>G NP_001276325.1:p.Thr656= NC_000009.12:2076260:C:G p.(Thr656=) NC_000009.12:2076260:C:G p.(Thr656=) NC_000009.12:2076260:C:G Identity +NM_016580.4:c.3490_3509del NP_057664.1:p.Asp1163_Pro1164insTer NC_000005.10:141945426:GTCCCCGTCTTTCCACCTGGGTCCCC:GTCCCC p.(Pro1164Ter) NC_000005.10:141945426:GTCCCCGTCTTTCCACCTGGGTCCCC:GTCCCC p.(Pro1164Ter) NC_000005.10:141945426:GTCCCCGTCTTTCCACCTGG: Analogous +NM_001289396.2:c.1068T>C NP_001276325.1:p.His356= NC_000009.12:2054617:T:C p.(His356=) NC_000009.12:2054617:T:C p.(His356=) NC_000009.12:2054617:T:C Identity +NM_017934.7:c.3807T>C NP_060404.4:p.Ile1269= NC_000006.12:78955657:A:G p.(Ile1269=) NC_000006.12:78955657:A:G p.(Ile1269=) NC_000006.12:78955657:A:G Identity +NM_014975.3:c.3732C>T NP_055790.1:p.Pro1244= NC_000019.10:12873888:C:T p.(Pro1244=) NC_000019.10:12873888:C:T p.(Pro1244=) NC_000019.10:12873888:C:T Identity +NM_001165412.2:c.1371C>T NP_001158884.1:p.Leu457= NC_000004.12:102596210:C:T p.(Leu457=) NC_000004.12:102596210:C:T p.(Leu457=) NC_000004.12:102596210:C:T Identity +NM_004446.3:c.987G>A NP_004437.2:p.Gly329= NC_000001.11:220022474:C:T p.(Gly329=) NC_000001.11:220022474:C:T p.(Gly329=) NC_000001.11:220022474:C:T Identity +NM_001377273.1:c.609G>A NP_001364202.1:p.Lys203= NC_000012.12:21915874:C:T p.(Lys203=) NC_000012.12:21915874:C:T p.(Lys203=) NC_000012.12:21915874:C:T Identity +NM_000370.3:c.645T>C NP_000361.1:p.Thr215= NC_000008.11:63064223:A:G p.(Thr215=) NC_000008.11:63064223:A:G p.(Thr215=) NC_000008.11:63064223:A:G Identity +NM_000501.4:c.894T>C NP_000492.2:p.Val298= NC_000007.14:74051927:T:C p.(Val298=) NC_000007.14:74051927:T:C p.(Val298=) NC_000007.14:74051927:T:C Identity +NM_001350748.2:c.1665A>G NP_001337677.1:p.Gly555= NC_000013.11:101192015:T:C p.(Gly555=) NC_000013.11:101192015:T:C p.(Gly555=) NC_000013.11:101192015:T:C Identity +NM_016562.4:c.3060A>G NP_057646.1:p.Gln1020= NC_000023.11:12888567:A:G p.(Gln1020=) NC_000023.11:12888567:A:G p.(Gln1020=) NC_000023.11:12888567:A:G Identity +NM_001127384.3:c.2401T>C NP_001120856.1:p.Leu801= NC_000010.11:65920616:A:G p.(Leu801=) NC_000010.11:65920616:A:G p.(Leu801=) NC_000010.11:65920616:A:G Identity +NM_002500.5:c.747C>T NP_002491.3:p.Tyr249= NC_000002.12:181678113:G:A p.(Tyr249=) NC_000002.12:181678113:G:A p.(Tyr249=) NC_000002.12:181678113:G:A Identity +NM_001256267.2:c.1503C>T NP_001243196.1:p.Val501= NC_000010.11:68165720:C:T p.(Val501=) NC_000010.11:68165720:C:T p.(Val501=) NC_000010.11:68165720:C:T Identity +NM_181776.3:c.925C>T NP_861441.2:p.Leu309= NC_000005.10:151325370:G:A p.(Leu309=) NC_000005.10:151325370:G:A p.(Leu309=) NC_000005.10:151325370:G:A Identity +NM_000632.4:c.324C>A NP_000623.2:p.Thr108= NC_000016.10:31266043:C:A p.(Thr108=) NC_000016.10:31266043:C:A p.(Thr108=) NC_000016.10:31266043:C:A Identity +NM_001145527.2:c.1389A>T NP_001138999.1:p.Ser463= NC_000009.12:137757898:A:T p.(Ser463=) NC_000009.12:137757898:A:T p.(Ser463=) NC_000009.12:137757898:A:T Identity +NM_001320613.2:c.909C>T NP_001307542.1:p.Asp303= NC_000002.12:24842300:G:A p.(Asp303=) NC_000002.12:24842300:G:A p.(Asp303=) NC_000002.12:24842300:G:A Identity +NM_001378414.1:c.1017G>A NP_001365343.1:p.Ser339= NC_000002.12:239134604:C:T p.(Ser339=) NC_000002.12:239134604:C:T p.(Ser339=) NC_000002.12:239134604:C:T Identity +NM_001301738.2:c.636G>A NP_001288667.1:p.Leu212= NC_000005.10:139478392:C:T p.(Leu212=) NC_000005.10:139478392:C:T p.(Leu212=) NC_000005.10:139478392:C:T Identity +NM_144670.6:c.999C>T NP_653271.3:p.Ile333= NC_000012.12:8839140:C:T p.(Ile333=) NC_000012.12:8839140:C:T p.(Ile333=) NC_000012.12:8839140:C:T Identity +NM_001267578.2:c.30G>A NP_001254507.1:p.Ala10= NC_000001.11:179882531:G:A p.(Ala10=) NC_000001.11:179882531:G:A p.(Ala10=) NC_000001.11:179882531:G:A Identity +NM_001282684.2:c.375C>T NP_001269613.2:p.Asp125= NC_000022.11:37056395:C:T p.(Asp125=) NC_000022.11:37056395:C:T p.(Asp125=) NC_000022.11:37056395:C:T Identity +NM_001351508.2:c.567A>C NP_001338437.1:p.Pro189= NC_000002.12:70216901:T:G p.(Pro189=) NC_000002.12:70216901:T:G p.(Pro189=) NC_000002.12:70216901:T:G Identity +NM_001190415.2:c.1932C>A NP_001177344.1:p.Ile644= NC_000007.14:100107458:G:T p.(Ile644=) NC_000007.14:100107458:G:T p.(Ile644=) NC_000007.14:100107458:G:T Identity +NM_003680.4:c.1110C>T NP_003671.1:p.Ile370= NC_000001.11:32781077:G:A p.(Ile370=) NC_000001.11:32781077:G:A p.(Ile370=) NC_000001.11:32781077:G:A Identity +NM_001364858.1:c.168C>G NP_001351787.1:p.Thr56= NC_000007.14:4784216:C:G p.(Thr56=) NC_000007.14:4784216:C:G p.(Thr56=) NC_000007.14:4784216:C:G Identity +NM_001106.4:c.1191G>C NP_001097.2:p.Val397= NC_000003.12:38482313:G:C p.(Val397=) NC_000003.12:38482313:G:C p.(Val397=) NC_000003.12:38482313:G:C Identity +NM_001291285.3:c.7557A>C NP_001278214.1:p.Pro2519= NC_000004.12:125448566:A:C p.(Pro2519=) NC_000004.12:125448566:A:C p.(Pro2519=) NC_000004.12:125448566:A:C Identity +NM_018109.4:c.1254C>T NP_060579.3:p.Asn418= NC_000010.11:30316175:G:A p.(Asn418=) NC_000010.11:30316175:G:A p.(Asn418=) NC_000010.11:30316175:G:A Identity +NM_000402.4:c.291C>T NP_000393.4:p.Ile97= NC_000023.11:154536002:G:A p.(Ile97=) NC_000023.11:154536002:G:A p.(Ile97=) NC_000023.11:154536002:G:A Identity +NM_000260.4:c.6543C>T NP_000251.3:p.Leu2181= NC_000011.10:77213963:C:T p.(Leu2181=) NC_000011.10:77213963:C:T p.(Leu2181=) NC_000011.10:77213963:C:T Identity +NM_003680.4:c.1401G>A NP_003671.1:p.Val467= NC_000001.11:32779456:C:T p.(Val467=) NC_000001.11:32779456:C:T p.(Val467=) NC_000001.11:32779456:C:T Identity +NM_000313.4:c.1761G>A NP_000304.2:p.Ser587= NC_000003.12:93877074:C:T p.(Ser587=) NC_000003.12:93877074:C:T p.(Ser587=) NC_000003.12:93877074:C:T Identity +NM_001042771.3:c.405G>A NP_001036236.1:p.Lys135= NC_000001.11:32275595:G:A p.(Lys135=) NC_000001.11:32275595:G:A p.(Lys135=) NC_000001.11:32275595:G:A Identity +NM_006063.3:c.717T>C NP_006054.2:p.Asp239= NC_000002.12:169510494:T:C p.(Asp239=) NC_000002.12:169510494:T:C p.(Asp239=) NC_000002.12:169510494:T:C Identity +NM_025081.3:c.1632C>G NP_079357.2:p.Leu544= NC_000014.9:24409425:C:G p.(Leu544=) NC_000014.9:24409425:C:G p.(Leu544=) NC_000014.9:24409425:C:G Identity +NM_000815.5:c.162C>T NP_000806.2:p.Asn54= NC_000001.11:2025034:C:T p.(Asn54=) NC_000001.11:2025034:C:T p.(Asn54=) NC_000001.11:2025034:C:T Identity +NM_005996.4:c.1272C>T NP_005987.3:p.Ser424= NC_000012.12:114674602:G:A p.(Ser424=) NC_000012.12:114674602:G:A p.(Ser424=) NC_000012.12:114674602:G:A Identity +NM_001003800.2:c.870C>T NP_001003800.1:p.Ala290= NC_000009.12:92720491:G:A p.(Ala290=) NC_000009.12:92720491:G:A p.(Ala290=) NC_000009.12:92720491:G:A Identity +NM_001127493.3:c.24T>C NP_001120965.1:p.Ser8= NC_000004.12:113174417:T:C p.(Ser8=) NC_000004.12:113174417:T:C p.(Ser8=) NC_000004.12:113174417:T:C Identity +NM_000501.4:c.753C>T NP_000492.2:p.Gly251= NC_000007.14:74048509:C:T p.(Gly251=) NC_000007.14:74048509:C:T p.(Gly251=) NC_000007.14:74048509:C:T Identity +NM_001286457.2:c.1755G>A NP_001273386.2:p.Ser585= NC_000016.10:8903303:C:T p.(Ser585=) NC_000016.10:8903303:C:T p.(Ser585=) NC_000016.10:8903303:C:T Identity +NM_005445.4:c.1830C>T NP_005436.1:p.Ile610= NC_000010.11:110593089:C:T p.(Ile610=) NC_000010.11:110593089:C:T p.(Ile610=) NC_000010.11:110593089:C:T Identity +NM_000228.3:c.1743C>T NP_000219.2:p.Cys581= NC_000001.11:209625880:G:A p.(Cys581=) NC_000001.11:209625880:G:A p.(Cys581=) NC_000001.11:209625880:G:A Identity +NM_000718.4:c.4581G>A NP_000709.1:p.Val1527= NC_000009.12:138059185:G:A p.(Val1527=) NC_000009.12:138059185:G:A p.(Val1527=) NC_000009.12:138059185:G:A Identity +NM_001363626.2:c.282G>T NP_001350555.1:p.Pro94= NC_000005.10:174724940:G:T p.(Pro94=) NC_000005.10:174724940:G:T p.(Pro94=) NC_000005.10:174724940:G:T Identity +NM_001410755.1:c.2112A>C NP_001397684.1:p.Ala704= NC_000001.11:15729892:A:C p.(Ala704=) NC_000001.11:15729892:A:C p.(Ala704=) NC_000001.11:15729892:A:C Identity +NM_001318864.2:c.699C>T NP_001305793.1:p.Phe233= NC_000003.12:57101211:G:A p.(Phe233=) NC_000003.12:57101211:G:A p.(Phe233=) NC_000003.12:57101211:G:A Identity +NM_001278689.2:c.204A>G NP_001265618.1:p.Pro68= NC_000003.12:69009642:T:C p.(Pro68=) NC_000003.12:69009642:T:C p.(Pro68=) NC_000003.12:69009642:T:C Identity +NM_001354705.2:c.1710G>A NP_001341634.1:p.Glu570= NC_000012.12:57575710:G:A p.(Glu570=) NC_000012.12:57575710:G:A p.(Glu570=) NC_000012.12:57575710:G:A Identity +NM_000313.4:c.1476A>G NP_000304.2:p.Gln492= NC_000003.12:93884743:T:C p.(Gln492=) NC_000003.12:93884743:T:C p.(Gln492=) NC_000003.12:93884743:T:C Identity +NM_020800.3:c.303T>C NP_065851.1:p.Ser101= NC_000003.12:160377496:A:G p.(Ser101=) NC_000003.12:160377496:A:G p.(Ser101=) NC_000003.12:160377496:A:G Identity +NM_001135.4:c.1164C>T NP_001126.3:p.Ile388= NC_000015.10:88845616:C:T p.(Ile388=) NC_000015.10:88845616:C:T p.(Ile388=) NC_000015.10:88845616:C:T Identity +NM_000183.3:c.660T>C NP_000174.1:p.Ser220= NC_000002.12:26279163:T:C p.(Ser220=) NC_000002.12:26279163:T:C p.(Ser220=) NC_000002.12:26279163:T:C Identity +NM_020702.5:c.1533C>T NP_065753.2:p.Asn511= NC_000009.12:34371410:G:A p.(Asn511=) NC_000009.12:34371410:G:A p.(Asn511=) NC_000009.12:34371410:G:A Identity +NM_181712.5:c.57T>C NP_859063.3:p.Pro19= NC_000001.11:62275046:A:G p.(Pro19=) NC_000001.11:62275046:A:G p.(Pro19=) NC_000001.11:62275046:A:G Identity +NM_000276.4:c.1185G>A NP_000267.2:p.Ala395= NC_000023.11:129562726:G:A p.(Ala395=) NC_000023.11:129562726:G:A p.(Ala395=) NC_000023.11:129562726:G:A Identity +NM_001321979.2:c.696C>G NP_001308908.1:p.Ala232= NC_000010.11:26746430:C:G p.(Ala232=) NC_000010.11:26746430:C:G p.(Ala232=) NC_000010.11:26746430:C:G Identity +NM_004104.5:c.2707C>T NP_004095.4:p.Leu903= NC_000017.11:82088193:G:A p.(Leu903=) NC_000017.11:82088193:G:A p.(Leu903=) NC_000017.11:82088193:G:A Identity +NM_001177465.3:c.975_995del NP_001170936.1:p.Leu326_Pro332del NC_000023.11:150470614:CCACCACCGCTGCCACTGCCACCACCACC:CCACCACC p.(Leu326_Pro332del) NC_000023.11:150470614:CCACCACCGCTGCCACTGCCACCACCACC:CCACCACC p.(Leu326_Pro332del) NC_000023.11:150470622:GCTGCCACTGCCACCACCACC: Identity +NM_003482.4:c.801C>T NP_003473.3:p.Gly267= NC_000012.12:49053513:G:A p.(Gly267=) NC_000012.12:49053513:G:A p.(Gly267=) NC_000012.12:49053513:G:A Identity +NM_020987.5:c.11694C>T NP_066267.2:p.Thr3898= NC_000010.11:60069186:G:A p.(Thr3898=) NC_000010.11:60069186:G:A p.(Thr3898=) NC_000010.11:60069186:G:A Identity +NM_001127384.3:c.1854T>C NP_001120856.1:p.His618= NC_000010.11:66280499:A:G p.(His618=) NC_000010.11:66280499:A:G p.(His618=) NC_000010.11:66280499:A:G Identity +NM_005763.4:c.1362A>G NP_005754.2:p.Thr454= NC_000007.14:122101414:T:C p.(Thr454=) NC_000007.14:122101414:T:C p.(Thr454=) NC_000007.14:122101414:T:C Identity +NM_001350338.2:c.447G>A NP_001337267.1:p.Ala149= NC_000021.9:32604211:C:T p.(Ala149=) NC_000021.9:32604211:C:T p.(Ala149=) NC_000021.9:32604211:C:T Identity +NM_001293306.2:c.3109A>C NP_001280235.2:p.Arg1037= NC_000003.12:38725289:T:G p.(Arg1037=) NC_000003.12:38725289:T:G p.(Arg1037=) NC_000003.12:38725289:T:G Identity +NM_005634.3:c.1002G>A NP_005625.2:p.Gly334= NC_000023.11:140504058:C:T p.(Gly334=) NC_000023.11:140504058:C:T p.(Gly334=) NC_000023.11:140504058:C:T Identity +NM_020795.4:c.1860G>A NP_065846.1:p.Thr620= NC_000017.11:7417150:G:A p.(Thr620=) NC_000017.11:7417150:G:A p.(Thr620=) NC_000017.11:7417150:G:A Identity +NM_003737.4:c.7548C>T NP_003728.1:p.Ala2516= NC_000011.10:6624127:G:A p.(Ala2516=) NC_000011.10:6624127:G:A p.(Ala2516=) NC_000011.10:6624127:G:A Identity +NM_001351157.2:c.1440G>A NP_001338086.1:p.Ser480= NC_000016.10:70692864:C:T p.(Ser480=) NC_000016.10:70692864:C:T p.(Ser480=) NC_000016.10:70692864:C:T Identity +NM_000402.4:c.1038C>T NP_000393.4:p.Gly346= NC_000023.11:154533044:G:A p.(Gly346=) NC_000023.11:154533044:G:A p.(Gly346=) NC_000023.11:154533044:G:A Identity +NM_000127.3:c.466C>T NP_000118.2:p.Leu156= NC_000008.11:118110580:G:A p.(Leu156=) NC_000008.11:118110580:G:A p.(Leu156=) NC_000008.11:118110580:G:A Identity +NM_002700.3:c.864A>G NP_002691.1:p.Ser288= NC_000005.10:146340290:A:G p.(Ser288=) NC_000005.10:146340290:A:G p.(Ser288=) NC_000005.10:146340290:A:G Identity +NM_005762.3:c.957G>A NP_005753.1:p.Lys319= NC_000019.10:58548035:G:A p.(Lys319=) NC_000019.10:58548035:G:A p.(Lys319=) NC_000019.10:58548035:G:A Identity +NM_031310.3:c.222C>T NP_112600.1:p.Leu74= NC_000019.10:17377066:G:A p.(Leu74=) NC_000019.10:17377066:G:A p.(Leu74=) NC_000019.10:17377066:G:A Identity +NM_005249.5:c.1174C>T NP_005240.3:p.Leu392= NC_000014.9:28768452:C:T p.(Leu392=) NC_000014.9:28768452:C:T p.(Leu392=) NC_000014.9:28768452:C:T Identity +NM_001282167.2:c.1044C>T NP_001269096.1:p.Tyr348= NC_000023.11:48520379:C:T p.(Tyr348=) NC_000023.11:48520379:C:T p.(Tyr348=) NC_000023.11:48520379:C:T Identity +NM_005120.3:c.75C>T NP_005111.2:p.Tyr25= NC_000023.11:71118828:C:T p.(Tyr25=) NC_000023.11:71118828:C:T p.(Tyr25=) NC_000023.11:71118828:C:T Identity +NM_001318245.2:c.2970A>T NP_001305174.1:p.Arg990= NC_000022.11:25828958:A:T p.(Arg990=) NC_000022.11:25828958:A:T p.(Arg990=) NC_000022.11:25828958:A:T Identity +NM_001377273.1:c.3949C>T NP_001364202.1:p.Leu1317= NC_000012.12:21815836:G:A p.(Leu1317=) NC_000012.12:21815836:G:A p.(Leu1317=) NC_000012.12:21815836:G:A Identity +NM_000054.7:c.24C>T NP_000045.1:p.Ser8= NC_000023.11:153905168:C:T p.(Ser8=) NC_000023.11:153905168:C:T p.(Ser8=) NC_000023.11:153905168:C:T Identity +NM_001286577.2:c.2634G>A NP_001273506.1:p.Val878= NC_000011.10:74100622:C:T p.(Val878=) NC_000011.10:74100622:C:T p.(Val878=) NC_000011.10:74100622:C:T Identity +NM_001378201.1:c.3429A>G NP_001365130.1:p.Glu1143= NC_000003.12:77617587:A:G p.(Glu1143=) NC_000003.12:77617587:A:G p.(Glu1143=) NC_000003.12:77617587:A:G Identity +NM_002010.3:c.441G>A NP_002001.1:p.Thr147= NC_000013.11:21701248:G:A p.(Thr147=) NC_000013.11:21701248:G:A p.(Thr147=) NC_000013.11:21701248:G:A Identity +NM_001329128.2:c.39C>T NP_001316057.1:p.Leu13= NC_000021.9:33403581:C:T p.(Leu13=) NC_000021.9:33403581:C:T p.(Leu13=) NC_000021.9:33403581:C:T Identity +NM_001304536.2:c.693C>T NP_001291465.1:p.Gly231= NC_000002.12:221563860:G:A p.(Gly231=) NC_000002.12:221563860:G:A p.(Gly231=) NC_000002.12:221563860:G:A Identity +NM_001005498.4:c.705G>A NP_001005498.2:p.Arg235= NC_000017.11:76477752:C:T p.(Arg235=) NC_000017.11:76477752:C:T p.(Arg235=) NC_000017.11:76477752:C:T Identity +NM_001411138.1:c.402G>A NP_001398067.1:p.Pro134= NC_000019.10:13913190:G:A p.(Pro134=) NC_000019.10:13913190:G:A p.(Pro134=) NC_000019.10:13913190:G:A Identity +NM_001306129.2:c.1116C>T NP_001293058.2:p.Tyr372= NC_000002.12:215424245:G:A p.(Tyr372=) NC_000002.12:215424245:G:A p.(Tyr372=) NC_000002.12:215424245:G:A Identity +NM_001012509.4:c.261G>T NP_001012527.2:p.Val87= NC_000005.10:33984322:C:A p.(Val87=) NC_000005.10:33984322:C:A p.(Val87=) NC_000005.10:33984322:C:A Identity +NM_002238.4:c.1707G>A NP_002229.1:p.Glu569= NC_000001.11:210797634:C:T p.(Glu569=) NC_000001.11:210797634:C:T p.(Glu569=) NC_000001.11:210797634:C:T Identity +NM_001145845.2:c.1824T>C NP_001139317.1:p.Asp608= NC_000003.12:78667916:A:G p.(Asp608=) NC_000003.12:78667916:A:G p.(Asp608=) NC_000003.12:78667916:A:G Identity +NM_001024845.3:c.1756C>T NP_001020016.1:p.Leu586= NC_000001.11:43997690:G:A p.(Leu586=) NC_000001.11:43997690:G:A p.(Leu586=) NC_000001.11:43997690:G:A Identity +NM_014510.3:c.10512T>C NP_055325.2:p.Ala3504= NC_000007.14:82950075:A:G p.(Ala3504=) NC_000007.14:82950075:A:G p.(Ala3504=) NC_000007.14:82950075:A:G Identity +NM_000821.7:c.1209G>A NP_000812.2:p.Val403= NC_000002.12:85553016:C:T p.(Val403=) NC_000002.12:85553016:C:T p.(Val403=) NC_000002.12:85553016:C:T Identity +NM_006231.4:c.3472_3477del NP_006222.2:p.Val1158_Pro1159del NC_000012.12:132657240:TGGCACTGG:TGG p.(Val1158_Pro1159del) NC_000012.12:132657240:TGGCACTGG:TGG p.(Val1158_Pro1159del) NC_000012.12:132657240:TGGCAC: Identity +NM_001365684.2:c.15T>C NP_001352613.2:p.Pro5= NC_000005.10:177135990:T:C p.(Pro5=) NC_000005.10:177135990:T:C p.(Pro5=) NC_000005.10:177135990:T:C Identity +NM_183075.3:c.1047C>G NP_898898.1:p.Leu349= NC_000004.12:107945525:C:G p.(Leu349=) NC_000004.12:107945525:C:G p.(Leu349=) NC_000004.12:107945525:C:G Identity +NM_001129.5:c.2739G>A NP_001120.3:p.Thr913= NC_000007.14:44113280:G:A p.(Thr913=) NC_000007.14:44113280:G:A p.(Thr913=) NC_000007.14:44113280:G:A Identity +NM_001354705.2:c.249C>T NP_001341634.1:p.Arg83= NC_000012.12:57567139:C:T p.(Arg83=) NC_000012.12:57567139:C:T p.(Arg83=) NC_000012.12:57567139:C:T Identity +NM_001105243.2:c.417G>C NP_001098713.1:p.Ser139= NC_000023.11:100408180:C:G p.(Ser139=) NC_000023.11:100408180:C:G p.(Ser139=) NC_000023.11:100408180:C:G Identity +NM_178170.3:c.840C>T NP_835464.1:p.Ser280= NC_000017.11:28737686:C:T p.(Ser280=) NC_000017.11:28737686:C:T p.(Ser280=) NC_000017.11:28737686:C:T Identity +NM_000718.4:c.3354G>A NP_000709.1:p.Arg1118= NC_000009.12:138043840:G:A p.(Arg1118=) NC_000009.12:138043840:G:A p.(Arg1118=) NC_000009.12:138043840:G:A Identity +NM_001281301.2:c.1770C>T NP_001268230.1:p.Asn590= NC_000015.10:69440799:C:T p.(Asn590=) NC_000015.10:69440799:C:T p.(Asn590=) NC_000015.10:69440799:C:T Identity +NM_001276468.2:c.30T>C NP_001263397.1:p.Ala10= NC_000012.12:57632102:A:G p.(Ala10=) NC_000012.12:57632102:A:G p.(Ala10=) NC_000012.12:57632102:A:G Identity +NM_001244580.2:c.4080G>A NP_001231509.1:p.Pro1360= NC_000007.14:98935643:G:A p.(Pro1360=) NC_000007.14:98935643:G:A p.(Pro1360=) NC_000007.14:98935643:G:A Identity +NM_001281768.2:c.666C>T NP_001268697.1:p.Cys222= NC_000007.14:45660074:C:T p.(Cys222=) NC_000007.14:45660074:C:T p.(Cys222=) NC_000007.14:45660074:C:T Identity +NM_001317012.2:c.723G>A NP_001303941.1:p.Thr241= NC_000020.11:23365105:G:A p.(Thr241=) NC_000020.11:23365105:G:A p.(Thr241=) NC_000020.11:23365105:G:A Identity +NM_001277742.2:c.309C>T NP_001264671.1:p.Ala103= NC_000002.12:72135314:G:A p.(Ala103=) NC_000002.12:72135314:G:A p.(Ala103=) NC_000002.12:72135314:G:A Identity +NM_000390.4:c.642A>G NP_000381.1:p.Arg214= NC_000023.11:85963724:T:C p.(Arg214=) NC_000023.11:85963724:T:C p.(Arg214=) NC_000023.11:85963724:T:C Identity +NM_000183.3:c.363T>A NP_000174.1:p.Leu121= NC_000002.12:26277080:T:A p.(Leu121=) NC_000002.12:26277080:T:A p.(Leu121=) NC_000002.12:26277080:T:A Identity +NM_012479.4:c.186C>G NP_036611.2:p.Val62= NC_000007.14:76330134:G:C p.(Val62=) NC_000007.14:76330134:G:C p.(Val62=) NC_000007.14:76330134:G:C Identity +NM_000335.5:c.1938G>A NP_000326.2:p.Gln646= NC_000003.12:38599002:C:T p.(Gln646=) NC_000003.12:38599002:C:T p.(Gln646=) NC_000003.12:38599002:C:T Identity +NM_001013838.3:c.3948T>C NP_001013860.1:p.Pro1316= NC_000016.10:67656556:T:C p.(Pro1316=) NC_000016.10:67656556:T:C p.(Pro1316=) NC_000016.10:67656556:T:C Identity +NM_000307.5:c.369T>C NP_000298.3:p.Ser123= NC_000023.11:83508692:T:C p.(Ser123=) NC_000023.11:83508692:T:C p.(Ser123=) NC_000023.11:83508692:T:C Identity +NM_020745.4:c.1161T>C NP_065796.2:p.Tyr387= NC_000006.12:44306520:A:G p.(Tyr387=) NC_000006.12:44306520:A:G p.(Tyr387=) NC_000006.12:44306520:A:G Identity +NM_002497.4:c.1329C>G NP_002488.1:p.Gly443= NC_000001.11:211663434:G:C p.(Gly443=) NC_000001.11:211663434:G:C p.(Gly443=) NC_000001.11:211663434:G:C Identity +NM_001165417.2:c.414C>T NP_001158889.1:p.Ala138= NC_000017.11:4938776:G:A p.(Ala138=) NC_000017.11:4938776:G:A p.(Ala138=) NC_000017.11:4938776:G:A Identity +NM_001099271.2:c.1269C>T NP_001092741.1:p.Ala423= NC_000005.10:75685344:G:A p.(Ala423=) NC_000005.10:75685344:G:A p.(Ala423=) NC_000005.10:75685344:G:A Identity +NM_001370528.1:c.1938T>C NP_001357457.1:p.Asp646= NC_000003.12:64099647:A:G p.(Asp646=) NC_000003.12:64099647:A:G p.(Asp646=) NC_000003.12:64099647:A:G Identity +NM_001715.3:c.42G>A NP_001706.2:p.Pro14= NC_000008.11:11543265:G:A p.(Pro14=) NC_000008.11:11543265:G:A p.(Pro14=) NC_000008.11:11543265:G:A Identity +NM_001079855.2:c.822G>A NP_001073324.1:p.Ala274= NC_000023.11:2860049:G:A p.(Ala274=) NC_000023.11:2860049:G:A p.(Ala274=) NC_000023.11:2860049:G:A Identity +NM_000038.6:c.3282A>G NP_000029.2:p.Gly1094= NC_000005.10:112838875:A:G p.(Gly1094=) NC_000005.10:112838875:A:G p.(Gly1094=) NC_000005.10:112838875:A:G Identity +NM_030665.4:c.3681C>G NP_109590.3:p.Ala1227= NC_000017.11:17796628:C:G p.(Ala1227=) NC_000017.11:17796628:C:G p.(Ala1227=) NC_000017.11:17796628:C:G Identity +NM_018127.7:c.645C>T NP_060597.4:p.Ser215= NC_000017.11:13011696:G:A p.(Ser215=) NC_000017.11:13011696:G:A p.(Ser215=) NC_000017.11:13011696:G:A Identity +NM_001127217.3:c.207C>T NP_001120689.1:p.Val69= NC_000013.11:36879482:G:A p.(Val69=) NC_000013.11:36879482:G:A p.(Val69=) NC_000013.11:36879482:G:A Identity +NM_001567.4:c.3729C>T NP_001558.3:p.Asp1243= NC_000011.10:72238304:C:T p.(Asp1243=) NC_000011.10:72238304:C:T p.(Asp1243=) NC_000011.10:72238304:C:T Identity +NM_001257069.1:c.225A>G NP_001243998.1:p.Gly75= NC_000004.12:152411578:T:C p.(Gly75=) NC_000004.12:152411578:T:C p.(Gly75=) NC_000004.12:152411578:T:C Identity +NM_001168370.2:c.4443G>T NP_001161842.2:p.Thr1481= NC_000006.12:43038934:C:A p.(Thr1481=) NC_000006.12:43038934:C:A p.(Thr1481=) NC_000006.12:43038934:C:A Identity +NM_006015.6:c.246_248dup NP_006006.3:p.Gly87_Ala88insGly NC_000001.11:26696646:GGTGG:GGTGGTGG p.(Gly87dup) NC_000001.11:26696646:GGTGG:GGTGGTGG p.(Gly87dup) ERR:SPDI Analogous +NM_000078.3:c.579G>A NP_000069.2:p.Lys193= NC_000016.10:56971083:G:A p.(Lys193=) NC_000016.10:56971083:G:A p.(Lys193=) NC_000016.10:56971083:G:A Identity +NM_001190241.2:c.1593T>C NP_001177170.1:p.Phe531= NC_000003.12:160277400:A:G p.(Phe531=) NC_000003.12:160277400:A:G p.(Phe531=) NC_000003.12:160277400:A:G Identity +NM_001291285.3:c.5328A>G NP_001278214.1:p.Thr1776= NC_000004.12:125406899:A:G p.(Thr1776=) NC_000004.12:125406899:A:G p.(Thr1776=) NC_000004.12:125406899:A:G Identity +NM_020745.4:c.1899G>A NP_065796.2:p.Thr633= NC_000006.12:44304288:C:T p.(Thr633=) NC_000006.12:44304288:C:T p.(Thr633=) NC_000006.12:44304288:C:T Identity +NM_001256213.2:c.1011G>C NP_001243142.1:p.Leu337= NC_000019.10:41984932:C:G p.(Leu337=) NC_000019.10:41984932:C:G p.(Leu337=) NC_000019.10:41984932:C:G Identity +NM_001278593.2:c.285C>T NP_001265522.1:p.Asp95= NC_000014.9:74072265:G:A p.(Asp95=) NC_000014.9:74072265:G:A p.(Asp95=) NC_000014.9:74072265:G:A Identity +NM_001319210.2:c.210A>G NP_001306139.1:p.Lys70= NC_000001.11:100377614:A:G p.(Lys70=) NC_000001.11:100377614:A:G p.(Lys70=) NC_000001.11:100377614:A:G Identity +NM_001261427.3:c.2685A>G NP_001248356.1:p.Ser895= NC_000002.12:11824784:A:G p.(Ser895=) NC_000002.12:11824784:A:G p.(Ser895=) NC_000002.12:11824784:A:G Identity +NM_001256849.1:c.2555_2563del NP_001243778.1:p.Leu852_Asp854del NC_000019.10:50414979:CTCATCGACC:C p.(Leu852_Asp854del) NC_000019.10:50414979:CTCATCGACC:C p.(Leu852_Asp854del) NC_000019.10:50414980:TCATCGACC: Identity +NM_173689.7:c.906G>A NP_775960.4:p.Ala302= NC_000009.12:123367322:G:A p.(Ala302=) NC_000009.12:123367322:G:A p.(Ala302=) NC_000009.12:123367322:G:A Identity +NM_001308301.1:c.936G>A NP_001295230.1:p.Lys312= NC_000016.10:46721148:C:T p.(Lys312=) NC_000016.10:46721148:C:T p.(Lys312=) NC_000016.10:46721148:C:T Identity +NM_001081640.2:c.7528T>C NP_001075109.1:p.Leu2510= NC_000008.11:47839172:A:G p.(Leu2510=) NC_000008.11:47839172:A:G p.(Leu2510=) NC_000008.11:47839172:A:G Identity +NM_001258206.2:c.624G>A NP_001245135.1:p.Lys208= NC_000019.10:6822483:G:A p.(Lys208=) NC_000019.10:6822483:G:A p.(Lys208=) NC_000019.10:6822483:G:A Identity +NM_001377456.1:c.873T>G NP_001364385.1:p.Gly291= NC_000016.10:56502739:A:C p.(Gly291=) NC_000016.10:56502739:A:C p.(Gly291=) NC_000016.10:56502739:A:C Identity +NM_022095.4:c.918T>C NP_071378.1:p.Asp306= NC_000020.11:45967530:A:G p.(Asp306=) NC_000020.11:45967530:A:G p.(Asp306=) NC_000020.11:45967530:A:G Identity +NM_001197104.2:c.8472G>A NP_001184033.1:p.Leu2824= NC_000011.10:118504363:G:A p.(Leu2824=) NC_000011.10:118504363:G:A p.(Leu2824=) NC_000011.10:118504363:G:A Identity +NM_021973.3:c.357C>T NP_068808.1:p.Phe119= NC_000004.12:173528932:G:A p.(Phe119=) NC_000004.12:173528932:G:A p.(Phe119=) NC_000004.12:173528932:G:A Identity +NM_005733.3:c.2178C>T NP_005724.1:p.Phe726= NC_000005.10:138186012:C:T p.(Phe726=) NC_000005.10:138186012:C:T p.(Phe726=) NC_000005.10:138186012:C:T Identity +NM_001170629.2:c.420C>T NP_001164100.1:p.Ala140= NC_000014.9:21431223:G:A p.(Ala140=) NC_000014.9:21431223:G:A p.(Ala140=) NC_000014.9:21431223:G:A Identity +NM_001301237.2:c.408T>C NP_001288166.1:p.Tyr136= NC_000001.11:40997396:T:C p.(Tyr136=) NC_000001.11:40997396:T:C p.(Tyr136=) NC_000001.11:40997396:T:C Identity +NM_001961.4:c.228C>T NP_001952.1:p.Ser76= NC_000019.10:3983281:G:A p.(Ser76=) NC_000019.10:3983281:G:A p.(Ser76=) NC_000019.10:3983281:G:A Identity +NM_001005862.3:c.1596G>T NP_001005862.1:p.Pro532= NC_000017.11:39716553:G:T p.(Pro532=) NC_000017.11:39716553:G:T p.(Pro532=) NC_000017.11:39716553:G:T Identity +NM_004994.3:c.948C>G NP_004985.2:p.Thr316= NC_000020.11:46011697:C:G p.(Thr316=) NC_000020.11:46011697:C:G p.(Thr316=) NC_000020.11:46011697:C:G Identity +NM_001286457.2:c.795G>A NP_001273386.2:p.Lys265= NC_000016.10:8917033:C:T p.(Lys265=) NC_000016.10:8917033:C:T p.(Lys265=) NC_000016.10:8917033:C:T Identity +NM_001127384.3:c.1116C>T NP_001120856.1:p.Asp372= NC_000010.11:66775455:G:A p.(Asp372=) NC_000010.11:66775455:G:A p.(Asp372=) NC_000010.11:66775455:G:A Identity +NM_001012301.4:c.1218C>A NP_001012301.1:p.Gly406= NC_000005.10:150297705:G:T p.(Gly406=) NC_000005.10:150297705:G:T p.(Gly406=) NC_000005.10:150297705:G:T Identity +NM_004211.5:c.126G>T NP_004202.4:p.Ala42= NC_000011.10:20601250:G:T p.(Ala42=) NC_000011.10:20601250:G:T p.(Ala42=) NC_000011.10:20601250:G:T Identity +NM_001270950.2:c.942C>A NP_001257879.1:p.Gly314= NC_000018.10:62384961:C:A p.(Gly314=) NC_000018.10:62384961:C:A p.(Gly314=) NC_000018.10:62384961:C:A Identity +NM_001377289.1:c.1437C>T NP_001364218.1:p.Gly479= NC_000006.12:70234916:G:A p.(Gly479=) NC_000006.12:70234916:G:A p.(Gly479=) NC_000006.12:70234916:G:A Identity +NM_001379500.1:c.4011C>T NP_001366429.1:p.Ala1337= NC_000021.9:45512388:C:T p.(Ala1337=) NC_000021.9:45512388:C:T p.(Ala1337=) NC_000021.9:45512388:C:T Identity +NM_001129840.2:c.1158C>G NP_001123312.1:p.Val386= NC_000012.12:2504479:C:G p.(Val386=) NC_000012.12:2504479:C:G p.(Val386=) NC_000012.12:2504479:C:G Identity +NM_014510.3:c.2085C>A NP_055325.2:p.Ser695= NC_000007.14:83135464:G:T p.(Ser695=) NC_000007.14:83135464:G:T p.(Ser695=) NC_000007.14:83135464:G:T Identity +NM_001256849.1:c.1431G>C NP_001243778.1:p.Val477= NC_000019.10:50406453:G:C p.(Val477=) NC_000019.10:50406453:G:C p.(Val477=) NC_000019.10:50406453:G:C Identity +NM_006231.4:c.191_193dup NP_006222.2:p.Ile64_Asn65insIle NC_000012.12:132681148:TAAT:TAATAAT p.(Ile64dup) NC_000012.12:132681148:TAAT:TAATAAT p.(Ile64dup) ERR:SPDI Analogous +NM_001033053.3:c.1404T>G NP_001028225.1:p.Pro468= NC_000017.11:5559291:A:C p.(Pro468=) NC_000017.11:5559291:A:C p.(Pro468=) NC_000017.11:5559291:A:C Identity +NM_001081676.2:c.1875C>A NP_001075145.1:p.Gly625= NC_000002.12:165139605:G:T p.(Gly625=) NC_000002.12:165139605:G:T p.(Gly625=) NC_000002.12:165139605:G:T Identity +NM_001318876.2:c.297C>T NP_001305805.1:p.Ser99= NC_000006.12:43519752:C:T p.(Ser99=) NC_000006.12:43519752:C:T p.(Ser99=) NC_000006.12:43519752:C:T Identity +NM_001377273.1:c.871A>C NP_001364202.1:p.Arg291= NC_000012.12:21913011:T:G p.(Arg291=) NC_000012.12:21913011:T:G p.(Arg291=) NC_000012.12:21913011:T:G Identity +NM_001243254.2:c.1449G>T NP_001230183.1:p.Leu483= NC_000011.10:9180772:C:A p.(Leu483=) NC_000011.10:9180772:C:A p.(Leu483=) NC_000011.10:9180772:C:A Identity +NM_003047.5:c.1092C>G NP_003038.2:p.Arg364= NC_000001.11:27107837:G:C p.(Arg364=) NC_000001.11:27107837:G:C p.(Arg364=) NC_000001.11:27107837:G:C Identity +NM_001318369.2:c.858C>T NP_001305298.1:p.Ile286= NC_000011.10:20630750:C:T p.(Ile286=) NC_000011.10:20630750:C:T p.(Ile286=) NC_000011.10:20630750:C:T Identity +NM_005249.5:c.183_203del NP_005240.3:p.Ala62_Pro68del NC_000014.9:28767450:CCGCCGCCGCCCGCCCCGCAACCGCCGCCGCC:CCGCCGCCGCC p.(Ala62_Pro68del) NC_000014.9:28767450:CCGCCGCCGCCCGCCCCGCAACCGCCGCCGCC:CCGCCGCCGCC p.(Ala62_Pro68del) NC_000014.9:28767461:CGCCCCGCAACCGCCGCCGCC: Identity +NM_001302960.2:c.162G>T NP_001289889.1:p.Arg54= NC_000011.10:67487067:G:T p.(Arg54=) NC_000011.10:67487067:G:T p.(Arg54=) NC_000011.10:67487067:G:T Identity +NM_001197104.2:c.321G>T NP_001184033.1:p.Arg107= NC_000011.10:118436832:G:T p.(Arg107=) NC_000011.10:118436832:G:T p.(Arg107=) NC_000011.10:118436832:G:T Identity +NM_001853.4:c.1497C>A NP_001844.3:p.Gly499= NC_000020.11:62836281:C:A p.(Gly499=) NC_000020.11:62836281:C:A p.(Gly499=) NC_000020.11:62836281:C:A Identity +NM_000102.4:c.1269C>A NP_000093.1:p.Thr423= NC_000010.11:102830959:G:T p.(Thr423=) NC_000010.11:102830959:G:T p.(Thr423=) NC_000010.11:102830959:G:T Identity +NM_005245.4:c.6825C>T NP_005236.2:p.Asp2275= NC_000004.12:186619760:G:A p.(Asp2275=) NC_000004.12:186619760:G:A p.(Asp2275=) NC_000004.12:186619760:G:A Identity +NM_001375567.1:c.489T>C NP_001362496.1:p.Pro163= NC_000009.12:20758185:T:C p.(Pro163=) NC_000009.12:20758185:T:C p.(Pro163=) NC_000009.12:20758185:T:C Identity +NM_001378285.1:c.39A>T NP_001365214.1:p.Thr13= NC_000003.12:149846064:A:T p.(Thr13=) NC_000003.12:149846064:A:T p.(Thr13=) NC_000003.12:149846064:A:T Identity +NM_001130823.3:c.2214G>A NP_001124295.1:p.Lys738= NC_000019.10:10151448:C:T p.(Lys738=) NC_000019.10:10151448:C:T p.(Lys738=) NC_000019.10:10151448:C:T Identity +NM_001323960.2:c.69T>C NP_001310889.1:p.Asp23= NC_000020.11:409926:T:C p.(Asp23=) NC_000020.11:409926:T:C p.(Asp23=) NC_000020.11:409926:T:C Identity +NM_001354263.2:c.3454C>T NP_001341192.1:p.Leu1152= NC_000009.12:137818072:C:T p.(Leu1152=) NC_000009.12:137818072:C:T p.(Leu1152=) NC_000009.12:137818072:C:T Identity +NM_014510.3:c.13399T>C NP_055325.2:p.Leu4467= NC_000007.14:82908914:A:G p.(Leu4467=) NC_000007.14:82908914:A:G p.(Leu4467=) NC_000007.14:82908914:A:G Identity +NM_020778.5:c.675G>T NP_065829.4:p.Arg225= NC_000015.10:84839953:G:T p.(Arg225=) NC_000015.10:84839953:G:T p.(Arg225=) NC_000015.10:84839953:G:T Identity +NM_001145527.2:c.1647A>G NP_001138999.1:p.Glu549= NC_000009.12:137762819:A:G p.(Glu549=) NC_000009.12:137762819:A:G p.(Glu549=) NC_000009.12:137762819:A:G Identity +NM_022114.4:c.3088CACGAG[3] NP_071397.3:p.Glu1033_Asn1034insHisGlu NC_000001.11:3425726:AGCACGAGCACGAG:AGCACGAGCACGAGCACGAG p.(His1032_Glu1033dup) NC_000001.11:3425728:C:CACGAGCACGAGCACGAG ERR:Parse ERR:Parse Analogous +NM_001324191.2:c.75T>C NP_001311120.1:p.Gly25= NC_000020.11:3908244:T:C p.(Gly25=) NC_000020.11:3908244:T:C p.(Gly25=) NC_000020.11:3908244:T:C Identity +NM_000812.4:c.1209G>A NP_000803.2:p.Gln403= NC_000004.12:47425801:G:A p.(Gln403=) NC_000004.12:47425801:G:A p.(Gln403=) NC_000004.12:47425801:G:A Identity +NM_001302959.2:c.237G>A NP_001289888.1:p.Leu79= NC_000011.10:67489400:G:A p.(Leu79=) NC_000011.10:67489400:G:A p.(Leu79=) NC_000011.10:67489400:G:A Identity +NM_001167614.2:c.2253A>C NP_001161086.1:p.Ala751= NC_000012.12:65241037:A:C p.(Ala751=) NC_000012.12:65241037:A:C p.(Ala751=) NC_000012.12:65241037:A:C Identity +NM_001351273.1:c.3990C>G NP_001338202.1:p.Arg1330= NC_000019.10:1467293:C:G p.(Arg1330=) NC_000019.10:1467293:C:G p.(Arg1330=) NC_000019.10:1467293:C:G Identity +NM_000701.8:c.903C>T NP_000692.2:p.Phe301= NC_000001.11:116389586:C:T p.(Phe301=) NC_000001.11:116389586:C:T p.(Phe301=) NC_000001.11:116389586:C:T Identity +NM_001308176.2:c.984A>G NP_001295105.1:p.Thr328= NC_000018.10:27993580:T:C p.(Thr328=) NC_000018.10:27993580:T:C p.(Thr328=) NC_000018.10:27993580:T:C Identity +NM_001308176.2:c.1593A>G NP_001295105.1:p.Glu531= NC_000018.10:27988578:T:C p.(Glu531=) NC_000018.10:27988578:T:C p.(Glu531=) NC_000018.10:27988578:T:C Identity +NM_014510.3:c.9870G>A NP_055325.2:p.Gln3290= NC_000007.14:82950717:C:T p.(Gln3290=) NC_000007.14:82950717:C:T p.(Gln3290=) NC_000007.14:82950717:C:T Identity +NM_014249.4:c.408G>A NP_055064.1:p.Glu136= NC_000015.10:71812012:G:A p.(Glu136=) NC_000015.10:71812012:G:A p.(Glu136=) NC_000015.10:71812012:G:A Identity +NM_000335.5:c.1863T>G NP_000326.2:p.Pro621= NC_000003.12:38603738:A:C p.(Pro621=) NC_000003.12:38603738:A:C p.(Pro621=) NC_000003.12:38603738:A:C Identity +NM_001171.6:c.3552T>C NP_001162.5:p.Phe1184= NC_000016.10:16161518:A:G p.(Phe1184=) NC_000016.10:16161518:A:G p.(Phe1184=) NC_000016.10:16161518:A:G Identity +NM_002470.4:c.1272T>C NP_002461.2:p.Ala424= NC_000017.11:10644488:A:G p.(Ala424=) NC_000017.11:10644488:A:G p.(Ala424=) NC_000017.11:10644488:A:G Identity +NM_001309443.2:c.858C>A NP_001296372.1:p.Ala286= NC_000005.10:151664108:G:T p.(Ala286=) NC_000005.10:151664108:G:T p.(Ala286=) NC_000005.10:151664108:G:T Identity +NM_000565.4:c.1101C>T NP_000556.1:p.Phe367= NC_000001.11:154454521:C:T p.(Phe367=) NC_000001.11:154454521:C:T p.(Phe367=) NC_000001.11:154454521:C:T Identity +NM_001098512.3:c.1863C>T NP_001091982.1:p.Gly621= NC_000010.11:52290235:C:T p.(Gly621=) NC_000010.11:52290235:C:T p.(Gly621=) NC_000010.11:52290235:C:T Identity +NM_001256468.2:c.411T>C NP_001243397.1:p.Ser137= NC_000010.11:74843267:T:C p.(Ser137=) NC_000010.11:74843267:T:C p.(Ser137=) NC_000010.11:74843267:T:C Identity +NM_000719.7:c.2835C>T NP_000710.5:p.Thr945= NC_000012.12:2597270:C:T p.(Thr945=) NC_000012.12:2597270:C:T p.(Thr945=) NC_000012.12:2597270:C:T Identity +NM_005472.5:c.102G>T NP_005463.1:p.Gly34= NC_000011.10:74457461:C:A p.(Gly34=) NC_000011.10:74457461:C:A p.(Gly34=) NC_000011.10:74457461:C:A Identity +NM_000495.5:c.3063A>C NP_000486.1:p.Gly1021= NC_000023.11:108625750:A:C p.(Gly1021=) NC_000023.11:108625750:A:C p.(Gly1021=) NC_000023.11:108625750:A:C Identity +NM_000428.3:c.5322T>C NP_000419.1:p.Asp1774= NC_000014.9:74501027:A:G p.(Asp1774=) NC_000014.9:74501027:A:G p.(Asp1774=) NC_000014.9:74501027:A:G Identity +NM_001203265.2:c.1401C>T NP_001190194.2:p.Leu467= NC_000003.12:9932832:C:T p.(Leu467=) NC_000003.12:9932832:C:T p.(Leu467=) NC_000003.12:9932832:C:T Identity +NM_001365724.1:c.63C>T NP_001352653.1:p.Val21= NC_000017.11:81653242:G:A p.(Val21=) NC_000017.11:81653242:G:A p.(Val21=) NC_000017.11:81653242:G:A Identity +NM_001128844.3:c.3750C>A NP_001122316.1:p.Ile1250= NC_000019.10:11033492:C:A p.(Ile1250=) NC_000019.10:11033492:C:A p.(Ile1250=) NC_000019.10:11033492:C:A Identity +NM_001365684.2:c.5826C>T NP_001352613.2:p.Ser1942= NC_000005.10:177294066:C:T p.(Ser1942=) NC_000005.10:177294066:C:T p.(Ser1942=) NC_000005.10:177294066:C:T Identity +NM_001276270.2:c.111A>G NP_001263199.1:p.Glu37= NC_000003.12:129437943:T:C p.(Glu37=) NC_000003.12:129437943:T:C p.(Glu37=) NC_000003.12:129437943:T:C Identity +NM_000179.3:c.2760G>A NP_000170.1:p.Lys920= NC_000002.12:47800742:G:A p.(Lys920=) NC_000002.12:47800742:G:A p.(Lys920=) NC_000002.12:47800742:G:A Identity +NM_001362843.2:c.390C>T NP_001349772.1:p.Gly130= NC_000022.11:41117481:C:T p.(Gly130=) NC_000022.11:41117481:C:T p.(Gly130=) NC_000022.11:41117481:C:T Identity +NM_001304763.2:c.927C>G NP_001291692.1:p.Ala309= NC_000001.11:151287217:C:G p.(Ala309=) NC_000001.11:151287217:C:G p.(Ala309=) NC_000001.11:151287217:C:G Identity +NM_031310.3:c.372C>G NP_112600.1:p.Val124= NC_000019.10:17366192:G:C p.(Val124=) NC_000019.10:17366192:G:C p.(Val124=) NC_000019.10:17366192:G:C Identity +NM_001256468.2:c.4665C>T NP_001243397.1:p.Thr1555= NC_000010.11:75030037:C:T p.(Thr1555=) NC_000010.11:75030037:C:T p.(Thr1555=) NC_000010.11:75030037:C:T Identity +NM_002641.4:c.132A>G NP_002632.1:p.Pro44= NC_000023.11:15331798:T:C p.(Pro44=) NC_000023.11:15331798:T:C p.(Pro44=) NC_000023.11:15331798:T:C Identity +NM_001346897.2:c.2168_2176dup NP_001333826.1:p.Ser723_Asp725dup NC_000007.14:55181309:CAGCGTGGACA:CAGCGTGGACAGCGTGGACA p.(Ser723_Asp725dup) NC_000007.14:55181309:CAGCGTGGACA:CAGCGTGGACAGCGTGGACA p.(Ser723_Asp725dup) ERR:SPDI Identity +NM_000744.7:c.1867C>T NP_000735.1:p.Leu623= NC_000020.11:63346754:G:A p.(Leu623=) NC_000020.11:63346754:G:A p.(Leu623=) NC_000020.11:63346754:G:A Identity +LRG_1249t1:c.681G>C LRG_1249p1:p.Ala227= NC_000010.11:104064522:C:G ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_001185012.2:c.135G>A NP_001171941.1:p.Lys45= NC_000005.10:140647328:C:T p.(Lys45=) NC_000005.10:140647328:C:T p.(Lys45=) NC_000005.10:140647328:C:T Identity +NM_001040142.2:c.5127A>G NP_001035232.1:p.Gln1709= NC_000002.12:165388932:A:G p.(Gln1709=) NC_000002.12:165388932:A:G p.(Gln1709=) NC_000002.12:165388932:A:G Identity +NM_001271043.2:c.210C>G NP_001257972.1:p.Gly70= NC_000019.10:13025178:C:G p.(Gly70=) NC_000019.10:13025178:C:G p.(Gly70=) NC_000019.10:13025178:C:G Identity +NM_005477.3:c.990G>T NP_005468.1:p.Pro330= NC_000015.10:73343603:C:A p.(Pro330=) NC_000015.10:73343603:C:A p.(Pro330=) NC_000015.10:73343603:C:A Identity +NM_001256850.1:c.83082T>C NP_001243779.1:p.Ala27694= NC_000002.12:178557256:A:G p.(Ala27694=) NC_000002.12:178557256:A:G p.(Ala27694=) NC_000002.12:178557256:A:G Identity +NM_001256850.1:c.94446G>A NP_001243779.1:p.Gln31482= NC_000002.12:178537837:C:T p.(Gln31482=) NC_000002.12:178537837:C:T p.(Gln31482=) NC_000002.12:178537837:C:T Identity +LRG_1122t1:c.7539C>T LRG_1122p1:p.Ser2513= NC_000009.12:136496199:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000388.4:c.2916G>A NP_000379.3:p.Thr972= NC_000003.12:122284869:G:A p.(Thr972=) NC_000003.12:122284869:G:A p.(Thr972=) NC_000003.12:122284869:G:A Identity +NM_002470.4:c.2083C>A NP_002461.2:p.Arg695= NC_000017.11:10641166:G:T p.(Arg695=) NC_000017.11:10641166:G:T p.(Arg695=) NC_000017.11:10641166:G:T Identity +NM_001256850.1:c.50391T>C NP_001243779.1:p.Ala16797= NC_000002.12:178601775:A:G p.(Ala16797=) NC_000002.12:178601775:A:G p.(Ala16797=) NC_000002.12:178601775:A:G Identity +NM_001256850.1:c.69651T>C NP_001243779.1:p.Ile23217= NC_000002.12:178571557:A:G p.(Ile23217=) NC_000002.12:178571557:A:G p.(Ile23217=) NC_000002.12:178571557:A:G Identity +NM_033071.5:c.15186G>A NP_149062.2:p.Ser5062= NC_000006.12:152325996:C:T p.(Ser5062=) NC_000006.12:152325996:C:T p.(Ser5062=) NC_000006.12:152325996:C:T Identity +NM_033071.5:c.6915C>A NP_149062.2:p.Thr2305= NC_000006.12:152401272:G:T p.(Thr2305=) NC_000006.12:152401272:G:T p.(Thr2305=) NC_000006.12:152401272:G:T Identity +NM_001135659.3:c.330C>T NP_001129131.1:p.Asn110= NC_000002.12:51027943:G:A p.(Asn110=) NC_000002.12:51027943:G:A p.(Asn110=) NC_000002.12:51027943:G:A Identity +NM_001256850.1:c.20062T>C NP_001243779.1:p.Leu6688= NC_000002.12:178724361:A:G p.(Leu6688=) NC_000002.12:178724361:A:G p.(Leu6688=) NC_000002.12:178724361:A:G Identity +NM_001379104.1:c.669G>A NP_001366033.1:p.Ala223= NC_000004.12:120816905:C:T p.(Ala223=) NC_000004.12:120816905:C:T p.(Ala223=) NC_000004.12:120816905:C:T Identity +NM_001169109.2:c.255G>A NP_001162580.1:p.Leu85= NC_000022.11:50524156:C:T p.(Leu85=) NC_000022.11:50524156:C:T p.(Leu85=) NC_000022.11:50524156:C:T Identity +NM_001256850.1:c.75096T>G NP_001243779.1:p.Ser25032= NC_000002.12:178566112:A:C p.(Ser25032=) NC_000002.12:178566112:A:C p.(Ser25032=) NC_000002.12:178566112:A:C Identity +NM_006939.4:c.2007T>C NP_008870.2:p.Ser669= NC_000014.9:50157048:A:G p.(Ser669=) NC_000014.9:50157048:A:G p.(Ser669=) NC_000014.9:50157048:A:G Identity +NM_001300823.2:c.360G>T NP_001287752.1:p.Leu120= NC_000004.12:120821285:C:A p.(Leu120=) NC_000004.12:120821285:C:A p.(Leu120=) NC_000004.12:120821285:C:A Identity +NM_001256850.1:c.88308C>T NP_001243779.1:p.Val29436= NC_000002.12:178548394:G:A p.(Val29436=) NC_000002.12:178548394:G:A p.(Val29436=) NC_000002.12:178548394:G:A Identity +NM_001040113.2:c.1131G>T NP_001035202.1:p.Ala377= NC_000016.10:15763814:C:A p.(Ala377=) NC_000016.10:15763814:C:A p.(Ala377=) NC_000016.10:15763814:C:A Identity +NM_000388.4:c.1851C>A NP_000379.3:p.Thr617= NC_000003.12:122283804:C:A p.(Thr617=) NC_000003.12:122283804:C:A p.(Thr617=) NC_000003.12:122283804:C:A Identity +NM_001256850.1:c.101265T>C NP_001243779.1:p.Asp33755= NC_000002.12:178530426:A:G p.(Asp33755=) NC_000002.12:178530426:A:G p.(Asp33755=) NC_000002.12:178530426:A:G Identity +NM_001256850.1:c.50883C>A NP_001243779.1:p.Pro16961= NC_000002.12:178601097:G:T p.(Pro16961=) NC_000002.12:178601097:G:T p.(Pro16961=) NC_000002.12:178601097:G:T Identity +NM_001349253.2:c.804C>T NP_001336182.1:p.Ala268= NC_000003.12:38921163:G:A p.(Ala268=) NC_000003.12:38921163:G:A p.(Ala268=) NC_000003.12:38921163:G:A Identity +NM_006939.4:c.2268T>G NP_008870.2:p.Pro756= NC_000014.9:50150123:A:C p.(Pro756=) NC_000014.9:50150123:A:C p.(Pro756=) NC_000014.9:50150123:A:C Identity +NM_001256850.1:c.71617del NP_001243779.1:p.Asp23872_Leu23873insTer NC_000002.12:178569591:GG:G p.(Leu23873Ter) NC_000002.12:178569591:GG:G p.(Leu23873Ter) NC_000002.12:178569591:G: Analogous +NM_001199107.2:c.396C>T NP_001186036.1:p.Pro132= NC_000016.10:2496543:C:T p.(Pro132=) NC_000016.10:2496543:C:T p.(Pro132=) NC_000016.10:2496543:C:T Identity +LRG_882t1:c.3882C>G LRG_882p1:p.Leu1294= NC_000009.12:2123837:C:G ERR:Data provider error: ValueError: Transcript LRG_882t1 not found ERR:Data provider error: ValueError: Transcript LRG_882t1 not found ERR:AlignmentMapper(tx_ac=LRG_882t1, alt_ac=LRG_882t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_882t1, alt_ac=LRG_882t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_882t1 not found +NM_000720.4:c.2721C>T NP_000711.1:p.Ile907= NC_000003.12:53735412:C:T p.(Ile907=) NC_000003.12:53735412:C:T p.(Ile907=) NC_000003.12:53735412:C:T Identity +NM_001256850.1:c.6927T>C NP_001243779.1:p.Asn2309= NC_000002.12:178774336:A:G p.(Asn2309=) NC_000002.12:178774336:A:G p.(Asn2309=) NC_000002.12:178774336:A:G Identity +NM_000032.5:c.888A>G NP_000023.2:p.Gly296= NC_000023.11:55017600:T:C p.(Gly296=) NC_000023.11:55017600:T:C p.(Gly296=) NC_000023.11:55017600:T:C Identity +NM_001256850.1:c.6267G>C NP_001243779.1:p.Val2089= NC_000002.12:178775596:C:G p.(Val2089=) NC_000002.12:178775596:C:G p.(Val2089=) NC_000002.12:178775596:C:G Identity +NM_001256850.1:c.15942A>C NP_001243779.1:p.Val5314= NC_000002.12:178732075:T:G p.(Val5314=) NC_000002.12:178732075:T:G p.(Val5314=) NC_000002.12:178732075:T:G Identity +NM_001199579.2:c.789C>T NP_001186508.1:p.His263= NC_000022.11:38745770:G:A p.(His263=) NC_000022.11:38745770:G:A p.(His263=) NC_000022.11:38745770:G:A Identity +NM_004369.4:c.5679G>A NP_004360.2:p.Thr1893= NC_000002.12:237365856:C:T p.(Thr1893=) NC_000002.12:237365856:C:T p.(Thr1893=) NC_000002.12:237365856:C:T Identity +NM_001005407.2:c.3252C>G NP_001005407.1:p.Pro1084= NC_000016.10:1208109:C:G p.(Pro1084=) NC_000016.10:1208109:C:G p.(Pro1084=) NC_000016.10:1208109:C:G Identity +NM_001256850.1:c.77511C>A NP_001243779.1:p.Val25837= NC_000002.12:178563697:G:T p.(Val25837=) NC_000002.12:178563697:G:T p.(Val25837=) NC_000002.12:178563697:G:T Identity +NM_001010867.4:c.955C>T NP_001010867.1:p.Leu319= NC_000001.11:228175396:C:T p.(Leu319=) NC_000001.11:228175396:C:T p.(Leu319=) NC_000001.11:228175396:C:T Identity +NM_001267578.2:c.1413G>A NP_001254507.1:p.Lys471= NC_000001.11:179917896:G:A p.(Lys471=) NC_000001.11:179917896:G:A p.(Lys471=) NC_000001.11:179917896:G:A Identity +NM_001369786.1:c.255T>C NP_001356715.1:p.Asn85= NC_000012.12:25227268:A:G p.(Asn85=) NC_000012.12:25227268:A:G p.(Asn85=) NC_000012.12:25227268:A:G Identity +NM_001377273.1:c.294A>G NP_001364202.1:p.Glu98= NC_000012.12:21926053:T:C p.(Glu98=) NC_000012.12:21926053:T:C p.(Glu98=) NC_000012.12:21926053:T:C Identity +NM_015164.4:c.438A>T NP_055979.2:p.Leu146= NC_000001.11:15718597:A:T p.(Leu146=) NC_000001.11:15718597:A:T p.(Leu146=) NC_000001.11:15718597:A:T Identity +NM_000038.6:c.3684G>A NP_000029.2:p.Gln1228= NC_000005.10:112839277:G:A p.(Gln1228=) NC_000005.10:112839277:G:A p.(Gln1228=) NC_000005.10:112839277:G:A Identity +NM_015180.6:c.1539A>G NP_055995.4:p.Glu513= NC_000014.9:63978983:A:G p.(Glu513=) NC_000014.9:63978983:A:G p.(Glu513=) NC_000014.9:63978983:A:G Identity +NM_000038.6:c.7671C>G NP_000029.2:p.Ser2557= NC_000005.10:112843264:C:G p.(Ser2557=) NC_000005.10:112843264:C:G p.(Ser2557=) NC_000005.10:112843264:C:G Identity +NM_001407571.1:c.399G>A NP_001394500.1:p.Leu133= NC_000017.11:43095903:C:T p.(Leu133=) NC_000017.11:43095903:C:T p.(Leu133=) NC_000017.11:43095903:C:T Identity +NM_001256850.1:c.20796G>C NP_001243779.1:p.Leu6932= NC_000002.12:178723259:C:G p.(Leu6932=) NC_000002.12:178723259:C:G p.(Leu6932=) NC_000002.12:178723259:C:G Identity +NM_000834.5:c.66A>T NP_000825.2:p.Ser22= NC_000012.12:13866142:T:A p.(Ser22=) NC_000012.12:13866142:T:A p.(Ser22=) NC_000012.12:13866142:T:A Identity +NM_000179.3:c.87C>A NP_000170.1:p.Arg29= NC_000002.12:47783319:C:A p.(Arg29=) NC_000002.12:47783319:C:A p.(Arg29=) NC_000002.12:47783319:C:A Identity +NM_001256850.1:c.9885G>A NP_001243779.1:p.Thr3295= NC_000002.12:178764629:C:T p.(Thr3295=) NC_000002.12:178764629:C:T p.(Thr3295=) NC_000002.12:178764629:C:T Identity +NM_001377456.1:c.285G>A NP_001364385.1:p.Gly95= NC_000016.10:56514512:C:T p.(Gly95=) NC_000016.10:56514512:C:T p.(Gly95=) NC_000016.10:56514512:C:T Identity +NM_003673.4:c.247C>T NP_003664.1:p.Leu83= NC_000017.11:39665851:C:T p.(Leu83=) NC_000017.11:39665851:C:T p.(Leu83=) NC_000017.11:39665851:C:T Identity +NM_001134363.3:c.2118C>T NP_001127835.2:p.Pro706= NC_000010.11:110812514:C:T p.(Pro706=) NC_000010.11:110812514:C:T p.(Pro706=) NC_000010.11:110812514:C:T Identity +NM_000543.5:c.1713C>T NP_000534.3:p.Thr571= NC_000011.10:6394423:C:T p.(Thr571=) NC_000011.10:6394423:C:T p.(Thr571=) NC_000011.10:6394423:C:T Identity +NM_001256850.1:c.14034A>C NP_001243779.1:p.Pro4678= NC_000002.12:178734938:T:G p.(Pro4678=) NC_000002.12:178734938:T:G p.(Pro4678=) NC_000002.12:178734938:T:G Identity +NM_001031714.4:c.2010G>A NP_001026884.3:p.Glu670= NC_000014.9:104709340:G:A p.(Glu670=) NC_000014.9:104709340:G:A p.(Glu670=) NC_000014.9:104709340:G:A Identity +NM_001281463.1:c.2517G>A NP_001268392.1:p.Lys839= NC_000023.11:53396596:C:T p.(Lys839=) NC_000023.11:53396596:C:T p.(Lys839=) NC_000023.11:53396596:C:T Identity +NM_000702.4:c.813C>G NP_000693.1:p.Leu271= NC_000001.11:160127615:C:G p.(Leu271=) NC_000001.11:160127615:C:G p.(Leu271=) NC_000001.11:160127615:C:G Identity +NM_001160302.2:c.969A>G NP_001153774.1:p.Glu323= NC_000021.9:32685896:T:C p.(Glu323=) NC_000021.9:32685896:T:C p.(Glu323=) NC_000021.9:32685896:T:C Identity +NM_000388.4:c.2235C>G NP_000379.3:p.Thr745= NC_000003.12:122284188:C:G p.(Thr745=) NC_000003.12:122284188:C:G p.(Thr745=) NC_000003.12:122284188:C:G Identity +NM_015512.5:c.8607C>T NP_056327.4:p.Leu2869= NC_000003.12:52385428:C:T p.(Leu2869=) NC_000003.12:52385428:C:T p.(Leu2869=) NC_000003.12:52385428:C:T Identity +NM_001256850.1:c.15942A>G NP_001243779.1:p.Val5314= NC_000002.12:178732075:T:C p.(Val5314=) NC_000002.12:178732075:T:C p.(Val5314=) NC_000002.12:178732075:T:C Identity +NM_001377456.1:c.1161C>T NP_001364385.1:p.Leu387= NC_000016.10:56501416:G:A p.(Leu387=) NC_000016.10:56501416:G:A p.(Leu387=) NC_000016.10:56501416:G:A Identity +NM_001256850.1:c.5973T>G NP_001243779.1:p.Pro1991= NC_000002.12:178775890:A:C p.(Pro1991=) NC_000002.12:178775890:A:C p.(Pro1991=) NC_000002.12:178775890:A:C Identity +NM_000722.4:c.603T>G NP_000713.2:p.Pro201= NC_000007.14:82084823:A:C p.(Pro201=) NC_000007.14:82084823:A:C p.(Pro201=) NC_000007.14:82084823:A:C Identity +NM_000059.4:c.1071A>G NP_000050.3:p.Glu357= NC_000013.11:32332548:A:G p.(Glu357=) NC_000013.11:32332548:A:G p.(Glu357=) NC_000013.11:32332548:A:G Identity +NM_001267550.2:c.38181C>T NP_001254479.2:p.Pro12727= NC_000002.12:178654769:G:A p.(Pro12727=) NC_000002.12:178654769:G:A p.(Pro12727=) NC_000002.12:178654769:G:A Identity +NM_024642.5:c.576G>C NP_078918.3:p.Ser192= NC_000009.12:98826785:G:C p.(Ser192=) NC_000009.12:98826785:G:C p.(Ser192=) NC_000009.12:98826785:G:C Identity +NM_001160306.2:c.4347_4355del NP_001153778.1:p.Lys1450_Ala1452del NC_000021.9:32631220:GCTGACTTTG:G p.(Lys1450_Ala1452del) NC_000021.9:32631220:GCTGACTTTG:G p.(Lys1450_Ala1452del) NC_000021.9:32631220:GCTGACTTT: Identity +NM_015657.4:c.457C>T NP_056472.2:p.Leu153= NC_000002.12:215019672:G:A p.(Leu153=) NC_000002.12:215019672:G:A p.(Leu153=) NC_000002.12:215019672:G:A Identity +NM_001324192.1:c.321G>A NP_001311121.1:p.Arg107= NC_000020.11:3889420:G:A p.(Arg107=) NC_000020.11:3889420:G:A p.(Arg107=) NC_000020.11:3889420:G:A Identity +NM_001040113.2:c.3861C>T NP_001035202.1:p.Asp1287= NC_000016.10:15726865:G:A p.(Asp1287=) NC_000016.10:15726865:G:A p.(Asp1287=) NC_000016.10:15726865:G:A Identity +NM_003895.4:c.3574del NP_003886.3:p.Gly1191_Val1192insTer NC_000021.9:32643430:CCCC:CCC p.(Val1192Ter) NC_000021.9:32643430:CCCC:CCC p.(Val1192Ter) NC_000021.9:32643430:C: Analogous +NM_001451.3:c.927G>T NP_001442.2:p.Leu309= NC_000016.10:86511495:G:T p.(Leu309=) NC_000016.10:86511495:G:T p.(Leu309=) NC_000016.10:86511495:G:T Identity +NM_000260.4:c.156C>T NP_000251.3:p.Asn52= NC_000011.10:77147820:C:T p.(Asn52=) NC_000011.10:77147820:C:T p.(Asn52=) NC_000011.10:77147820:C:T Identity +NM_001256850.1:c.84160del NP_001243779.1:p.Lys28053_Val28054insTer NC_000002.12:178554027:C: p.(Val28054Ter) NC_000002.12:178554027:C: p.(Val28054Ter) NC_000002.12:178554027:C: Analogous +NM_001256850.1:c.27081C>T NP_001243779.1:p.Ser9027= NC_000002.12:178711203:G:A p.(Ser9027=) NC_000002.12:178711203:G:A p.(Ser9027=) NC_000002.12:178711203:G:A Identity +NM_001256850.1:c.92053C>T NP_001243779.1:p.Leu30685= NC_000002.12:178542877:G:A p.(Leu30685=) NC_000002.12:178542877:G:A p.(Leu30685=) NC_000002.12:178542877:G:A Identity +NM_001317924.2:c.1935T>C NP_001304853.1:p.Asp645= NC_000004.12:39240327:T:C p.(Asp645=) NC_000004.12:39240327:T:C p.(Asp645=) NC_000004.12:39240327:T:C Identity +NM_001005407.2:c.16C>A NP_001005407.1:p.Arg6= NC_000016.10:1153752:C:A p.(Arg6=) NC_000016.10:1153752:C:A p.(Arg6=) NC_000016.10:1153752:C:A Identity +NM_001256850.1:c.44427A>T NP_001243779.1:p.Pro14809= NC_000002.12:178613932:T:A p.(Pro14809=) NC_000002.12:178613932:T:A p.(Pro14809=) NC_000002.12:178613932:T:A Identity +NM_001256850.1:c.66429T>A NP_001243779.1:p.Thr22143= NC_000002.12:178574779:A:T p.(Thr22143=) NC_000002.12:178574779:A:T p.(Thr22143=) NC_000002.12:178574779:A:T Identity +NM_000388.4:c.63G>A NP_000379.3:p.Gly21= NC_000003.12:122254251:G:A p.(Gly21=) NC_000003.12:122254251:G:A p.(Gly21=) NC_000003.12:122254251:G:A Identity +NM_001256850.1:c.77443T>C NP_001243779.1:p.Leu25815= NC_000002.12:178563765:A:G p.(Leu25815=) NC_000002.12:178563765:A:G p.(Leu25815=) NC_000002.12:178563765:A:G Identity +NM_015512.5:c.11601C>T NP_056327.4:p.Ile3867= NC_000003.12:52396787:C:T p.(Ile3867=) NC_000003.12:52396787:C:T p.(Ile3867=) NC_000003.12:52396787:C:T Identity +NM_001267550.2:c.34335T>G NP_001254479.2:p.Pro11445= NC_000002.12:178677243:A:C p.(Pro11445=) NC_000002.12:178677243:A:C p.(Pro11445=) NC_000002.12:178677243:A:C Identity +NM_001256850.1:c.7455C>T NP_001243779.1:p.Ile2485= NC_000002.12:178773600:G:A p.(Ile2485=) NC_000002.12:178773600:G:A p.(Ile2485=) NC_000002.12:178773600:G:A Identity +NM_015662.3:c.1380T>G NP_056477.1:p.Ala460= NC_000002.12:27476671:A:C p.(Ala460=) NC_000002.12:27476671:A:C p.(Ala460=) NC_000002.12:27476671:A:C Identity +NM_001256850.1:c.102393C>T NP_001243779.1:p.Tyr34131= NC_000002.12:178528334:G:A p.(Tyr34131=) NC_000002.12:178528334:G:A p.(Tyr34131=) NC_000002.12:178528334:G:A Identity +NM_001256850.1:c.60378T>C NP_001243779.1:p.Ile20126= NC_000002.12:178583880:A:G p.(Ile20126=) NC_000002.12:178583880:A:G p.(Ile20126=) NC_000002.12:178583880:A:G Identity +NM_033071.5:c.7455T>C NP_149062.2:p.Ser2485= NC_000006.12:152396896:A:G p.(Ser2485=) NC_000006.12:152396896:A:G p.(Ser2485=) NC_000006.12:152396896:A:G Identity +NM_000543.5:c.276A>G NP_000534.3:p.Pro92= NC_000011.10:6390873:A:G p.(Pro92=) NC_000011.10:6390873:A:G p.(Pro92=) NC_000011.10:6390873:A:G Identity +NM_001267550.2:c.37029A>T NP_001254479.2:p.Pro12343= NC_000002.12:178662347:T:A p.(Pro12343=) NC_000002.12:178662347:T:A p.(Pro12343=) NC_000002.12:178662347:T:A Identity +NM_001324281.3:c.666C>T NP_001311210.1:p.Ser222= NC_000007.14:2944229:G:A p.(Ser222=) NC_000007.14:2944229:G:A p.(Ser222=) NC_000007.14:2944229:G:A Identity +NM_000834.5:c.1824G>A NP_000825.2:p.Leu608= NC_000012.12:13608788:C:T p.(Leu608=) NC_000012.12:13608788:C:T p.(Leu608=) NC_000012.12:13608788:C:T Identity +NM_001382708.1:c.1404G>A NP_001369637.1:p.Val468= NC_000002.12:219425983:G:A p.(Val468=) NC_000002.12:219425983:G:A p.(Val468=) NC_000002.12:219425983:G:A Identity +NM_001256850.1:c.78828G>A NP_001243779.1:p.Lys26276= NC_000002.12:178562380:C:T p.(Lys26276=) NC_000002.12:178562380:C:T p.(Lys26276=) NC_000002.12:178562380:C:T Identity +NM_001283009.2:c.1602C>G NP_001269938.1:p.Ser534= NC_000020.11:63688144:C:G p.(Ser534=) NC_000020.11:63688144:C:G p.(Ser534=) NC_000020.11:63688144:C:G Identity +NM_001256850.1:c.102069C>T NP_001243779.1:p.Ile34023= NC_000002.12:178528758:G:A p.(Ile34023=) NC_000002.12:178528758:G:A p.(Ile34023=) NC_000002.12:178528758:G:A Identity +NM_025132.4:c.75A>G NP_079408.3:p.Ser25= NC_000004.12:39185793:A:G p.(Ser25=) NC_000004.12:39185793:A:G p.(Ser25=) NC_000004.12:39185793:A:G Identity +NM_001008211.1:c.822T>A NP_001008212.1:p.Ile274= NC_000010.11:13122426:T:A p.(Ile274=) NC_000010.11:13122426:T:A p.(Ile274=) NC_000010.11:13122426:T:A Identity +NM_022168.4:c.1980G>A NP_071451.2:p.Glu660= NC_000002.12:162277478:C:T p.(Glu660=) NC_000002.12:162277478:C:T p.(Glu660=) NC_000002.12:162277478:C:T Identity +NM_001256850.1:c.1323A>G NP_001243779.1:p.Pro441= NC_000002.12:178794473:T:C p.(Pro441=) NC_000002.12:178794473:T:C p.(Pro441=) NC_000002.12:178794473:T:C Identity +NM_001256850.1:c.58125T>C NP_001243779.1:p.Ser19375= NC_000002.12:178588676:A:G p.(Ser19375=) NC_000002.12:178588676:A:G p.(Ser19375=) NC_000002.12:178588676:A:G Identity +NM_001256850.1:c.57180G>T NP_001243779.1:p.Leu19060= NC_000002.12:178589621:C:A p.(Leu19060=) NC_000002.12:178589621:C:A p.(Leu19060=) NC_000002.12:178589621:C:A Identity +NM_001172420.2:c.732C>T NP_001165891.1:p.Ile244= NC_000006.12:52454159:C:T p.(Ile244=) NC_000006.12:52454159:C:T p.(Ile244=) NC_000006.12:52454159:C:T Identity +NM_001040142.2:c.1533A>G NP_001035232.1:p.Lys511= NC_000002.12:165315619:A:G p.(Lys511=) NC_000002.12:165315619:A:G p.(Lys511=) NC_000002.12:165315619:A:G Identity +NM_033071.5:c.5775A>G NP_149062.2:p.Ala1925= NC_000006.12:152416682:T:C p.(Ala1925=) NC_000006.12:152416682:T:C p.(Ala1925=) NC_000006.12:152416682:T:C Identity +NM_001283009.2:c.2748C>T NP_001269938.1:p.Thr916= NC_000020.11:63692899:C:T p.(Thr916=) NC_000020.11:63692899:C:T p.(Thr916=) NC_000020.11:63692899:C:T Identity +NM_001382708.1:c.1038G>A NP_001369637.1:p.Arg346= NC_000002.12:219421356:G:A p.(Arg346=) NC_000002.12:219421356:G:A p.(Arg346=) NC_000002.12:219421356:G:A Identity +NM_001349253.2:c.4020A>T NP_001336182.1:p.Gly1340= NC_000003.12:38863230:T:A p.(Gly1340=) NC_000003.12:38863230:T:A p.(Gly1340=) NC_000003.12:38863230:T:A Identity +NM_001144769.5:c.3951C>T NP_001138241.1:p.Ala1317= NC_000006.12:56631302:G:A p.(Ala1317=) NC_000006.12:56631302:G:A p.(Ala1317=) NC_000006.12:56631302:G:A Identity +NM_000388.4:c.2448C>T NP_000379.3:p.Ile816= NC_000003.12:122284401:C:T p.(Ile816=) NC_000003.12:122284401:C:T p.(Ile816=) NC_000003.12:122284401:C:T Identity +NM_001005407.2:c.6828G>A NP_001005407.1:p.Leu2276= NC_000016.10:1220777:G:A p.(Leu2276=) NC_000016.10:1220777:G:A p.(Leu2276=) NC_000016.10:1220777:G:A Identity +NM_001160302.2:c.2994G>A NP_001153774.1:p.Leu998= NC_000021.9:32650226:C:T p.(Leu998=) NC_000021.9:32650226:C:T p.(Leu998=) NC_000021.9:32650226:C:T Identity +NM_001005407.2:c.5610G>C NP_001005407.1:p.Leu1870= NC_000016.10:1218391:G:C p.(Leu1870=) NC_000016.10:1218391:G:C p.(Leu1870=) NC_000016.10:1218391:G:C Identity +NM_001005407.2:c.4170G>A NP_001005407.1:p.Lys1390= NC_000016.10:1210917:G:A p.(Lys1390=) NC_000016.10:1210917:G:A p.(Lys1390=) NC_000016.10:1210917:G:A Identity +NM_001256850.1:c.73581A>C NP_001243779.1:p.Ala24527= NC_000002.12:178567627:T:G p.(Ala24527=) NC_000002.12:178567627:T:G p.(Ala24527=) NC_000002.12:178567627:T:G Identity +NM_001256850.1:c.73911A>C NP_001243779.1:p.Pro24637= NC_000002.12:178567297:T:G p.(Pro24637=) NC_000002.12:178567297:T:G p.(Pro24637=) NC_000002.12:178567297:T:G Identity +NM_001144769.5:c.10599G>A NP_001138241.1:p.Leu3533= NC_000006.12:56532495:C:T p.(Leu3533=) NC_000006.12:56532495:C:T p.(Leu3533=) NC_000006.12:56532495:C:T Identity +NM_001256850.1:c.5808G>A NP_001243779.1:p.Arg1936= NC_000002.12:178776055:C:T p.(Arg1936=) NC_000002.12:178776055:C:T p.(Arg1936=) NC_000002.12:178776055:C:T Identity +NM_001256850.1:c.70485T>C NP_001243779.1:p.Tyr23495= NC_000002.12:178570723:A:G p.(Tyr23495=) NC_000002.12:178570723:A:G p.(Tyr23495=) NC_000002.12:178570723:A:G Identity +NM_001256850.1:c.14326C>T NP_001243779.1:p.Leu4776= NC_000002.12:178734546:G:A p.(Leu4776=) NC_000002.12:178734546:G:A p.(Leu4776=) NC_000002.12:178734546:G:A Identity +NM_013334.4:c.663G>A NP_037466.3:p.Gln221= NC_000003.12:49722335:C:T p.(Gln221=) NC_000003.12:49722335:C:T p.(Gln221=) NC_000003.12:49722335:C:T Identity +NM_000180.4:c.2127A>G NP_000171.1:p.Thr709= NC_000017.11:8013115:A:G p.(Thr709=) NC_000017.11:8013115:A:G p.(Thr709=) NC_000017.11:8013115:A:G Identity +NM_001256850.1:c.92262C>T NP_001243779.1:p.Ile30754= NC_000002.12:178542668:G:A p.(Ile30754=) NC_000002.12:178542668:G:A p.(Ile30754=) NC_000002.12:178542668:G:A Identity +NM_001144769.5:c.2241A>G NP_001138241.1:p.Ser747= NC_000006.12:56640292:T:C p.(Ser747=) NC_000006.12:56640292:T:C p.(Ser747=) NC_000006.12:56640292:T:C Identity +NM_001256850.1:c.89625A>C NP_001243779.1:p.Thr29875= NC_000002.12:178546879:T:G p.(Thr29875=) NC_000002.12:178546879:T:G p.(Thr29875=) NC_000002.12:178546879:T:G Identity +NM_024652.6:c.5814C>A NP_078928.3:p.Gly1938= NC_000015.10:101066684:C:A p.(Gly1938=) NC_000015.10:101066684:C:A p.(Gly1938=) NC_000015.10:101066684:C:A Identity +NM_001256850.1:c.73998A>G NP_001243779.1:p.Thr24666= NC_000002.12:178567210:T:C p.(Thr24666=) NC_000002.12:178567210:T:C p.(Thr24666=) NC_000002.12:178567210:T:C Identity +NM_007129.5:c.1377_1406del NP_009060.2:p.Ala461_Ala470del NC_000013.11:99985448:GCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC:GCGGCGGCGGC p.(Ala461_Ala470del) NC_000013.11:99985448:GCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC:GCGGCGGCGGC p.(Ala461_Ala470del) NC_000013.11:99985459:AGCGGCGGCGGCGGCTGCGGCGGCGGCGGC: Identity +NM_001170634.1:c.666CGG[10] NP_001164105.1:p.Gly227_Gly230dup NC_000016.10:31185081:GGCGGCGGCGGCGGCGGCGG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG p.(Gly227_Gly230dup) NC_000016.10:31185083:C:CGGCGGCGGCGGCGGCGGCGGCGGCGGCGG ERR:Parse ERR:Parse Identity +NM_000834.5:c.4035C>T NP_000825.2:p.Gly1345= NC_000012.12:13563202:G:A p.(Gly1345=) NC_000012.12:13563202:G:A p.(Gly1345=) NC_000012.12:13563202:G:A Identity +NM_001256850.1:c.5790A>G NP_001243779.1:p.Gln1930= NC_000002.12:178776073:T:C p.(Gln1930=) NC_000002.12:178776073:T:C p.(Gln1930=) NC_000002.12:178776073:T:C Identity +NM_015662.3:c.1413G>A NP_056477.1:p.Val471= NC_000002.12:27472360:C:T p.(Val471=) NC_000002.12:27472360:C:T p.(Val471=) NC_000002.12:27472360:C:T Identity +NM_001256850.1:c.97366del NP_001243779.1:p.Thr32455_Leu32456insTer NC_000002.12:178534325:GGG:GG p.(Leu32456Ter) NC_000002.12:178534325:GGG:GG p.(Leu32456Ter) NC_000002.12:178534325:G: Analogous +NM_001256850.1:c.42564_42565del NP_001243779.1:p.Tyr14188_Ser14189delinsTer NC_000002.12:178617862:TGT:T p.(Tyr14188Ter) NC_000002.12:178617862:TGT:T p.(Tyr14188Ter) NC_000002.12:178617862:TG: Analogous +NM_000834.5:c.3678C>A NP_000825.2:p.Ser1226= NC_000012.12:13563559:G:T p.(Ser1226=) NC_000012.12:13563559:G:T p.(Ser1226=) NC_000012.12:13563559:G:T Identity +NM_001347701.2:c.880C>T NP_001334630.1:p.Leu294= NC_000006.12:152151996:G:A p.(Leu294=) NC_000006.12:152151996:G:A p.(Leu294=) NC_000006.12:152151996:G:A Identity +NM_033071.5:c.14952G>C NP_149062.2:p.Leu4984= NC_000006.12:152326423:C:G p.(Leu4984=) NC_000006.12:152326423:C:G p.(Leu4984=) NC_000006.12:152326423:C:G Identity +NM_001256850.1:c.37857G>A NP_001243779.1:p.Val12619= NC_000002.12:178633578:C:T p.(Val12619=) NC_000002.12:178633578:C:T p.(Val12619=) NC_000002.12:178633578:C:T Identity +NM_001317799.2:c.1155C>T NP_001304728.1:p.Ala385= NC_000004.12:122935723:C:T p.(Ala385=) NC_000004.12:122935723:C:T p.(Ala385=) NC_000004.12:122935723:C:T Identity +NM_001199138.2:c.2739G>A NP_001186067.1:p.Gly913= NC_000002.12:32235443:C:T p.(Gly913=) NC_000002.12:32235443:C:T p.(Gly913=) NC_000002.12:32235443:C:T Identity +NM_001256850.1:c.10293G>A NP_001243779.1:p.Leu3431= NC_000002.12:178758993:C:T p.(Leu3431=) NC_000002.12:178758993:C:T p.(Leu3431=) NC_000002.12:178758993:C:T Identity +NM_001256850.1:c.70641T>C NP_001243779.1:p.Asn23547= NC_000002.12:178570567:A:G p.(Asn23547=) NC_000002.12:178570567:A:G p.(Asn23547=) NC_000002.12:178570567:A:G Identity +NM_001723.7:c.5511C>T NP_001714.1:p.Ala1837= NC_000006.12:56618522:G:A p.(Ala1837=) NC_000006.12:56618522:G:A p.(Ala1837=) NC_000006.12:56618522:G:A Identity +NM_001283009.2:c.2781C>T NP_001269938.1:p.Asp927= NC_000020.11:63692932:C:T p.(Asp927=) NC_000020.11:63692932:C:T p.(Asp927=) NC_000020.11:63692932:C:T Identity +NM_001256850.1:c.52017A>T NP_001243779.1:p.Pro17339= NC_000002.12:178598769:T:A p.(Pro17339=) NC_000002.12:178598769:T:A p.(Pro17339=) NC_000002.12:178598769:T:A Identity +NM_015512.5:c.6840G>A NP_056327.4:p.Val2280= NC_000003.12:52372907:G:A p.(Val2280=) NC_000003.12:52372907:G:A p.(Val2280=) NC_000003.12:52372907:G:A Identity +NM_022168.4:c.2964A>G NP_071451.2:p.Val988= NC_000002.12:162267313:T:C p.(Val988=) NC_000002.12:162267313:T:C p.(Val988=) NC_000002.12:162267313:T:C Identity +NM_004959.5:c.1362A>G NP_004950.2:p.Glu454= NC_000009.12:124482781:T:C p.(Glu454=) NC_000009.12:124482781:T:C p.(Glu454=) NC_000009.12:124482781:T:C Identity +NM_001283009.2:c.2679G>C NP_001269938.1:p.Thr893= NC_000020.11:63692830:G:C p.(Thr893=) NC_000020.11:63692830:G:C p.(Thr893=) NC_000020.11:63692830:G:C Identity +NM_001283009.2:c.1498C>T NP_001269938.1:p.Leu500= NC_000020.11:63687952:C:T p.(Leu500=) NC_000020.11:63687952:C:T p.(Leu500=) NC_000020.11:63687952:C:T Identity +NM_001040142.2:c.3870T>C NP_001035232.1:p.Thr1290= NC_000002.12:165373244:T:C p.(Thr1290=) NC_000002.12:165373244:T:C p.(Thr1290=) NC_000002.12:165373244:T:C Identity +NM_001256850.1:c.36201T>C NP_001243779.1:p.Cys12067= NC_000002.12:178636602:A:G p.(Cys12067=) NC_000002.12:178636602:A:G p.(Cys12067=) NC_000002.12:178636602:A:G Identity +NM_001256850.1:c.54525A>G NP_001243779.1:p.Pro18175= NC_000002.12:178592556:T:C p.(Pro18175=) NC_000002.12:178592556:T:C p.(Pro18175=) NC_000002.12:178592556:T:C Identity +NM_001272003.2:c.1926C>A NP_001258932.1:p.Gly642= NC_000009.12:135772766:C:A p.(Gly642=) NC_000009.12:135772766:C:A p.(Gly642=) NC_000009.12:135772766:C:A Identity +NM_001256850.1:c.36441G>A NP_001243779.1:p.Glu12147= NC_000002.12:178636206:C:T p.(Glu12147=) NC_000002.12:178636206:C:T p.(Glu12147=) NC_000002.12:178636206:C:T Identity +NM_000388.4:c.1392A>G NP_000379.3:p.Leu464= NC_000003.12:122275825:A:G p.(Leu464=) NC_000003.12:122275825:A:G p.(Leu464=) NC_000003.12:122275825:A:G Identity +NM_001256850.1:c.7734T>C NP_001243779.1:p.Tyr2578= NC_000002.12:178773229:A:G p.(Tyr2578=) NC_000002.12:178773229:A:G p.(Tyr2578=) NC_000002.12:178773229:A:G Identity +NM_001256850.1:c.15351C>A NP_001243779.1:p.Ser5117= NC_000002.12:178732873:G:T p.(Ser5117=) NC_000002.12:178732873:G:T p.(Ser5117=) NC_000002.12:178732873:G:T Identity +NM_001256850.1:c.64209A>G NP_001243779.1:p.Pro21403= NC_000002.12:178577202:T:C p.(Pro21403=) NC_000002.12:178577202:T:C p.(Pro21403=) NC_000002.12:178577202:T:C Identity +NM_001283009.2:c.2922A>C NP_001269938.1:p.Arg974= NC_000020.11:63693212:A:C p.(Arg974=) NC_000020.11:63693212:A:C p.(Arg974=) NC_000020.11:63693212:A:C Identity +NM_001256850.1:c.53262G>A NP_001243779.1:p.Lys17754= NC_000002.12:178594207:C:T p.(Lys17754=) NC_000002.12:178594207:C:T p.(Lys17754=) NC_000002.12:178594207:C:T Identity +NM_001256850.1:c.6240C>T NP_001243779.1:p.Ile2080= NC_000002.12:178775623:G:A p.(Ile2080=) NC_000002.12:178775623:G:A p.(Ile2080=) NC_000002.12:178775623:G:A Identity +NM_001031714.4:c.1368A>G NP_001026884.3:p.Thr456= NC_000014.9:104707634:A:G p.(Thr456=) NC_000014.9:104707634:A:G p.(Thr456=) NC_000014.9:104707634:A:G Identity +NM_001305005.3:c.1465T>C NP_001291934.1:p.Leu489= NC_000002.12:108010582:T:C p.(Leu489=) NC_000002.12:108010582:T:C p.(Leu489=) NC_000002.12:108010582:T:C Identity +NM_001256850.1:c.43593C>A NP_001243779.1:p.Ile14531= NC_000002.12:178615428:G:T p.(Ile14531=) NC_000002.12:178615428:G:T p.(Ile14531=) NC_000002.12:178615428:G:T Identity +NM_001103.4:c.1395G>T NP_001094.1:p.Ala465= NC_000001.11:236744764:G:T p.(Ala465=) NC_000001.11:236744764:G:T p.(Ala465=) NC_000001.11:236744764:G:T Identity +NM_001267550.2:c.11250A>G NP_001254479.2:p.Glu3750= NC_000002.12:178756225:T:C p.(Glu3750=) NC_000002.12:178756225:T:C p.(Glu3750=) NC_000002.12:178756225:T:C Identity +NM_001256850.1:c.92460T>C NP_001243779.1:p.Phe30820= NC_000002.12:178542372:A:G p.(Phe30820=) NC_000002.12:178542372:A:G p.(Phe30820=) NC_000002.12:178542372:A:G Identity +NM_001256850.1:c.27093A>G NP_001243779.1:p.Gln9031= NC_000002.12:178711191:T:C p.(Gln9031=) NC_000002.12:178711191:T:C p.(Gln9031=) NC_000002.12:178711191:T:C Identity +NM_001256850.1:c.45342C>T NP_001243779.1:p.Pro15114= NC_000002.12:178612145:G:A p.(Pro15114=) NC_000002.12:178612145:G:A p.(Pro15114=) NC_000002.12:178612145:G:A Identity +NM_001256850.1:c.25173A>G NP_001243779.1:p.Ala8391= NC_000002.12:178715061:T:C p.(Ala8391=) NC_000002.12:178715061:T:C p.(Ala8391=) NC_000002.12:178715061:T:C Identity +NM_001272003.2:c.1476C>G NP_001258932.1:p.Ser492= NC_000009.12:135770046:C:G p.(Ser492=) NC_000009.12:135770046:C:G p.(Ser492=) NC_000009.12:135770046:C:G Identity +NM_033071.5:c.16230A>C NP_149062.2:p.Ala5410= NC_000006.12:152318209:T:G p.(Ala5410=) NC_000006.12:152318209:T:G p.(Ala5410=) NC_000006.12:152318209:T:G Identity +NM_001005407.2:c.2538C>A NP_001005407.1:p.Ala846= NC_000016.10:1205199:C:A p.(Ala846=) NC_000016.10:1205199:C:A p.(Ala846=) NC_000016.10:1205199:C:A Identity +NM_001040142.2:c.189A>G NP_001035232.1:p.Pro63= NC_000002.12:165296011:A:G p.(Pro63=) NC_000002.12:165296011:A:G p.(Pro63=) NC_000002.12:165296011:A:G Identity +NM_001256850.1:c.15045A>G NP_001243779.1:p.Thr5015= NC_000002.12:178733296:T:C p.(Thr5015=) NC_000002.12:178733296:T:C p.(Thr5015=) NC_000002.12:178733296:T:C Identity +NM_001244644.2:c.111A>C NP_001231573.1:p.Val37= NC_000003.12:87245820:A:C p.(Val37=) NC_000003.12:87245820:A:C p.(Val37=) NC_000003.12:87245820:A:C Identity +NM_001256850.1:c.68130T>C NP_001243779.1:p.Gly22710= NC_000002.12:178573078:A:G p.(Gly22710=) NC_000002.12:178573078:A:G p.(Gly22710=) NC_000002.12:178573078:A:G Identity +NM_001103.4:c.1510C>T NP_001094.1:p.Leu504= NC_000001.11:236747769:C:T p.(Leu504=) NC_000001.11:236747769:C:T p.(Leu504=) NC_000001.11:236747769:C:T Identity +NM_000543.5:c.30G>A NP_000534.3:p.Gln10= NC_000011.10:6390627:G:A p.(Gln10=) NC_000011.10:6390627:G:A p.(Gln10=) NC_000011.10:6390627:G:A Identity +NM_001256850.1:c.16644G>A NP_001243779.1:p.Leu5548= NC_000002.12:178731069:C:T p.(Leu5548=) NC_000002.12:178731069:C:T p.(Leu5548=) NC_000002.12:178731069:C:T Identity +NM_001256850.1:c.1965C>T NP_001243779.1:p.Ala655= NC_000002.12:178789470:G:A p.(Ala655=) NC_000002.12:178789470:G:A p.(Ala655=) NC_000002.12:178789470:G:A Identity +NM_000388.4:c.2664G>T NP_000379.3:p.Thr888= NC_000003.12:122284617:G:T p.(Thr888=) NC_000003.12:122284617:G:T p.(Thr888=) NC_000003.12:122284617:G:T Identity +NM_001256850.1:c.37254C>T NP_001243779.1:p.Pro12418= NC_000002.12:178634603:G:A p.(Pro12418=) NC_000002.12:178634603:G:A p.(Pro12418=) NC_000002.12:178634603:G:A Identity +NM_022168.4:c.540A>G NP_071451.2:p.Ala180= NC_000002.12:162310846:T:C p.(Ala180=) NC_000002.12:162310846:T:C p.(Ala180=) NC_000002.12:162310846:T:C Identity +NM_001256850.1:c.102807A>G NP_001243779.1:p.Glu34269= NC_000002.12:178527257:T:C p.(Glu34269=) NC_000002.12:178527257:T:C p.(Glu34269=) NC_000002.12:178527257:T:C Identity +NM_001005407.2:c.2148C>A NP_001005407.1:p.Gly716= NC_000016.10:1204154:C:A p.(Gly716=) NC_000016.10:1204154:C:A p.(Gly716=) NC_000016.10:1204154:C:A Identity +NM_001256850.1:c.19941G>C NP_001243779.1:p.Thr6647= NC_000002.12:178724482:C:G p.(Thr6647=) NC_000002.12:178724482:C:G p.(Thr6647=) NC_000002.12:178724482:C:G Identity +NM_015512.5:c.1167G>A NP_056327.4:p.Leu389= NC_000003.12:52332274:G:A p.(Leu389=) NC_000003.12:52332274:G:A p.(Leu389=) NC_000003.12:52332274:G:A Identity +NM_000554.6:c.345G>A NP_000545.1:p.Arg115= NC_000019.10:47839411:G:A p.(Arg115=) NC_000019.10:47839411:G:A p.(Arg115=) NC_000019.10:47839411:G:A Identity +NM_001317924.2:c.2010G>T NP_001304853.1:p.Gly670= NC_000004.12:39244315:G:T p.(Gly670=) NC_000004.12:39244315:G:T p.(Gly670=) NC_000004.12:39244315:G:T Identity +NM_001199107.2:c.855G>C NP_001186036.1:p.Leu285= NC_000016.10:2497002:G:C p.(Leu285=) NC_000016.10:2497002:G:C p.(Leu285=) NC_000016.10:2497002:G:C Identity +NM_004990.4:c.1338G>C NP_004981.2:p.Ser446= NC_000012.12:57504268:G:C p.(Ser446=) NC_000012.12:57504268:G:C p.(Ser446=) NC_000012.12:57504268:G:C Identity +NM_000883.4:c.1572C>T NP_000874.2:p.Ile524= NC_000007.14:128394577:G:A p.(Ile524=) NC_000007.14:128394577:G:A p.(Ile524=) NC_000007.14:128394577:G:A Identity +NM_133378.4:c.36057T>C NP_596869.4:p.Tyr12019= NC_000002.12:178631286:A:G p.(Tyr12019=) NC_000002.12:178631286:A:G p.(Tyr12019=) NC_000002.12:178631286:A:G Identity +NM_001256850.1:c.50952G>A NP_001243779.1:p.Gly16984= NC_000002.12:178601028:C:T p.(Gly16984=) NC_000002.12:178601028:C:T p.(Gly16984=) NC_000002.12:178601028:C:T Identity +NM_001277971.2:c.114C>T NP_001264900.1:p.Leu38= NC_000008.11:43103661:C:T p.(Leu38=) NC_000008.11:43103661:C:T p.(Leu38=) NC_000008.11:43103661:C:T Identity +NM_001194998.2:c.4425G>A NP_001181927.1:p.Leu1475= NC_000015.10:48738956:C:T p.(Leu1475=) NC_000015.10:48738956:C:T p.(Leu1475=) NC_000015.10:48738956:C:T Identity +NM_001244644.2:c.69A>G NP_001231573.1:p.Gln23= NC_000003.12:87245778:A:G p.(Gln23=) NC_000003.12:87245778:A:G p.(Gln23=) NC_000003.12:87245778:A:G Identity +NM_001256850.1:c.5295C>T NP_001243779.1:p.Gly1765= NC_000002.12:178776568:G:A p.(Gly1765=) NC_000002.12:178776568:G:A p.(Gly1765=) NC_000002.12:178776568:G:A Identity +NM_001031714.4:c.1503C>T NP_001026884.3:p.Pro501= NC_000014.9:104707769:C:T p.(Pro501=) NC_000014.9:104707769:C:T p.(Pro501=) NC_000014.9:104707769:C:T Identity +NM_033071.5:c.21261G>A NP_149062.2:p.Leu7087= NC_000006.12:152224541:C:T p.(Leu7087=) NC_000006.12:152224541:C:T p.(Leu7087=) NC_000006.12:152224541:C:T Identity +NM_001256850.1:c.92472C>T NP_001243779.1:p.Thr30824= NC_000002.12:178542360:G:A p.(Thr30824=) NC_000002.12:178542360:G:A p.(Thr30824=) NC_000002.12:178542360:G:A Identity +NM_001144769.5:c.2634A>T NP_001138241.1:p.Thr878= NC_000006.12:56639575:T:A p.(Thr878=) NC_000006.12:56639575:T:A p.(Thr878=) NC_000006.12:56639575:T:A Identity +NM_000251.3:c.933C>T NP_000242.1:p.Asn311= NC_000002.12:47414408:C:T p.(Asn311=) NC_000002.12:47414408:C:T p.(Asn311=) NC_000002.12:47414408:C:T Identity +NM_001040142.2:c.4656C>T NP_001035232.1:p.Thr1552= NC_000002.12:165386849:C:T p.(Thr1552=) NC_000002.12:165386849:C:T p.(Thr1552=) NC_000002.12:165386849:C:T Identity +NM_001301035.2:c.660C>T NP_001287964.1:p.Ser220= NC_000019.10:42249226:G:A p.(Ser220=) NC_000019.10:42249226:G:A p.(Ser220=) NC_000019.10:42249226:G:A Identity +NM_001256850.1:c.63057C>T NP_001243779.1:p.Ala21019= NC_000002.12:178579049:G:A p.(Ala21019=) NC_000002.12:178579049:G:A p.(Ala21019=) NC_000002.12:178579049:G:A Identity +NM_001256850.1:c.78849T>C NP_001243779.1:p.Ser26283= NC_000002.12:178562359:A:G p.(Ser26283=) NC_000002.12:178562359:A:G p.(Ser26283=) NC_000002.12:178562359:A:G Identity +NM_001376.5:c.8145C>T NP_001367.2:p.Pro2715= NC_000014.9:102017471:C:T p.(Pro2715=) NC_000014.9:102017471:C:T p.(Pro2715=) NC_000014.9:102017471:C:T Identity +NM_032737.4:c.1554G>C NP_116126.3:p.Thr518= NC_000019.10:2432451:C:G p.(Thr518=) NC_000019.10:2432451:C:G p.(Thr518=) NC_000019.10:2432451:C:G Identity +NM_133378.4:c.74847C>G NP_596869.4:p.Thr24949= NC_000002.12:178563580:G:C p.(Thr24949=) NC_000002.12:178563580:G:C p.(Thr24949=) NC_000002.12:178563580:G:C Identity +NM_133378.4:c.32064G>A NP_596869.4:p.Ala10688= NC_000002.12:178651896:C:T p.(Ala10688=) NC_000002.12:178651896:C:T p.(Ala10688=) NC_000002.12:178651896:C:T Identity +NM_001111125.3:c.4245C>T NP_001104595.1:p.Tyr1415= NC_000023.11:53234440:G:A p.(Tyr1415=) NC_000023.11:53234440:G:A p.(Tyr1415=) NC_000023.11:53234440:G:A Identity +LRG_1135t2:c.1923A>G LRG_1135p2:p.Ala641= NC_000010.11:52293806:A:G ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found +LRG_1122t1:c.6594G>T LRG_1122p1:p.Ser2198= NC_000009.12:136497144:C:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001256850.1:c.75411T>C NP_001243779.1:p.Ala25137= NC_000002.12:178565797:A:G p.(Ala25137=) NC_000002.12:178565797:A:G p.(Ala25137=) NC_000002.12:178565797:A:G Identity +LRG_1122t1:c.1788G>A LRG_1122p1:p.Thr596= NC_000009.12:136515597:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001256850.1:c.79569G>A NP_001243779.1:p.Val26523= NC_000002.12:178561639:C:T p.(Val26523=) NC_000002.12:178561639:C:T p.(Val26523=) NC_000002.12:178561639:C:T Identity +NM_001256850.1:c.58983C>T NP_001243779.1:p.Ile19661= NC_000002.12:178587304:G:A p.(Ile19661=) NC_000002.12:178587304:G:A p.(Ile19661=) NC_000002.12:178587304:G:A Identity +NM_001282205.2:c.339C>T NP_001269134.1:p.Ser113= NC_000009.12:34637232:G:A p.(Ser113=) NC_000009.12:34637232:G:A p.(Ser113=) NC_000009.12:34637232:G:A Identity +NM_001256850.1:c.92895C>T NP_001243779.1:p.Asn30965= NC_000002.12:178540347:G:A p.(Asn30965=) NC_000002.12:178540347:G:A p.(Asn30965=) NC_000002.12:178540347:G:A Identity +NM_001256850.1:c.72336T>C NP_001243779.1:p.Ser24112= NC_000002.12:178568872:A:G p.(Ser24112=) NC_000002.12:178568872:A:G p.(Ser24112=) NC_000002.12:178568872:A:G Identity +NM_001031714.4:c.264C>T NP_001026884.3:p.Gly88= NC_000014.9:104701628:C:T p.(Gly88=) NC_000014.9:104701628:C:T p.(Gly88=) NC_000014.9:104701628:C:T Identity +NM_001079846.1:c.5157C>T NP_001073315.1:p.Gly1719= NC_000016.10:3729775:G:A p.(Gly1719=) NC_000016.10:3729775:G:A p.(Gly1719=) NC_000016.10:3729775:G:A Identity +NM_024110.4:c.1773G>A NP_077015.2:p.Thr591= NC_000017.11:80198512:G:A p.(Thr591=) NC_000017.11:80198512:G:A p.(Thr591=) NC_000017.11:80198512:G:A Identity +NM_001005407.2:c.6226C>A NP_001005407.1:p.Arg2076= NC_000016.10:1220175:C:A p.(Arg2076=) NC_000016.10:1220175:C:A p.(Arg2076=) NC_000016.10:1220175:C:A Identity +NM_001127493.3:c.4233G>A NP_001120965.1:p.Thr1411= NC_000004.12:113345910:G:A p.(Thr1411=) NC_000004.12:113345910:G:A p.(Thr1411=) NC_000004.12:113345910:G:A Identity +NM_001256850.1:c.77664C>T NP_001243779.1:p.Leu25888= NC_000002.12:178563544:G:A p.(Leu25888=) NC_000002.12:178563544:G:A p.(Leu25888=) NC_000002.12:178563544:G:A Identity +NM_001082575.3:c.843A>T NP_001076044.1:p.Ala281= NC_000017.11:79095526:T:A p.(Ala281=) NC_000017.11:79095526:T:A p.(Ala281=) NC_000017.11:79095526:T:A Identity +NM_001354705.2:c.2766G>A NP_001341634.1:p.Pro922= NC_000012.12:57583112:G:A p.(Pro922=) NC_000012.12:57583112:G:A p.(Pro922=) NC_000012.12:57583112:G:A Identity +NM_001272073.2:c.915G>A NP_001259002.1:p.Thr305= NC_000003.12:49100602:C:T p.(Thr305=) NC_000003.12:49100602:C:T p.(Thr305=) NC_000003.12:49100602:C:T Identity +NM_001316690.1:c.2067G>A NP_001303619.1:p.Thr689= NC_000008.11:60865152:G:A p.(Thr689=) NC_000008.11:60865152:G:A p.(Thr689=) NC_000008.11:60865152:G:A Identity +NM_000540.3:c.7884C>T NP_000531.2:p.Phe2628= NC_000019.10:38502927:C:T p.(Phe2628=) NC_000019.10:38502927:C:T p.(Phe2628=) NC_000019.10:38502927:C:T Identity +NM_000540.3:c.13152C>G NP_000531.2:p.Pro4384= NC_000019.10:38565485:C:G p.(Pro4384=) NC_000019.10:38565485:C:G p.(Pro4384=) NC_000019.10:38565485:C:G Identity +NM_001145661.2:c.174C>A NP_001139133.1:p.Pro58= NC_000003.12:128486857:G:T p.(Pro58=) NC_000003.12:128486857:G:T p.(Pro58=) NC_000003.12:128486857:G:T Identity +NM_000388.4:c.1839G>A NP_000379.3:p.Gly613= NC_000003.12:122283792:G:A p.(Gly613=) NC_000003.12:122283792:G:A p.(Gly613=) NC_000003.12:122283792:G:A Identity +NM_001256850.1:c.4890G>T NP_001243779.1:p.Ala1630= NC_000002.12:178776973:C:A p.(Ala1630=) NC_000002.12:178776973:C:A p.(Ala1630=) NC_000002.12:178776973:C:A Identity +NM_001101362.3:c.393C>T NP_001094832.1:p.Asp131= NC_000015.10:65077207:C:T p.(Asp131=) NC_000015.10:65077207:C:T p.(Asp131=) NC_000015.10:65077207:C:T Identity +NM_001305005.3:c.1086C>T NP_001291934.1:p.Asn362= NC_000002.12:108008654:C:T p.(Asn362=) NC_000002.12:108008654:C:T p.(Asn362=) NC_000002.12:108008654:C:T Identity +NM_018706.7:c.1419G>A NP_061176.4:p.Thr473= NC_000010.11:12097743:G:A p.(Thr473=) NC_000010.11:12097743:G:A p.(Thr473=) NC_000010.11:12097743:G:A Identity +NM_001271043.2:c.1185G>A NP_001257972.1:p.Pro395= NC_000019.10:13081761:G:A p.(Pro395=) NC_000019.10:13081761:G:A p.(Pro395=) NC_000019.10:13081761:G:A Identity +NM_001321193.3:c.273A>G NP_001308122.1:p.Val91= NC_000003.12:177051657:T:C p.(Val91=) NC_000003.12:177051657:T:C p.(Val91=) NC_000003.12:177051657:T:C Identity +NM_001290265.2:c.276C>T NP_001277194.1:p.Ile92= NC_000019.10:18884106:G:A p.(Ile92=) NC_000019.10:18884106:G:A p.(Ile92=) NC_000019.10:18884106:G:A Identity +NM_001135599.4:c.1062C>T NP_001129071.1:p.Phe354= NC_000001.11:218437387:C:T p.(Phe354=) NC_000001.11:218437387:C:T p.(Phe354=) NC_000001.11:218437387:C:T Identity +NM_001256850.1:c.85998C>T NP_001243779.1:p.Val28666= NC_000002.12:178551978:G:A p.(Val28666=) NC_000002.12:178551978:G:A p.(Val28666=) NC_000002.12:178551978:G:A Identity +NM_000540.3:c.5310G>A NP_000531.2:p.Ser1770= NC_000019.10:38485964:G:A p.(Ser1770=) NC_000019.10:38485964:G:A p.(Ser1770=) NC_000019.10:38485964:G:A Identity +NM_001305005.3:c.540G>T NP_001291934.1:p.Gly180= NC_000002.12:107997928:G:T p.(Gly180=) NC_000002.12:107997928:G:T p.(Gly180=) NC_000002.12:107997928:G:T Identity +NM_032806.6:c.549C>T NP_116195.2:p.Pro183= NC_000003.12:43080882:G:A p.(Pro183=) NC_000003.12:43080882:G:A p.(Pro183=) NC_000003.12:43080882:G:A Identity +NM_001256850.1:c.7533C>T NP_001243779.1:p.Asp2511= NC_000002.12:178773522:G:A p.(Asp2511=) NC_000002.12:178773522:G:A p.(Asp2511=) NC_000002.12:178773522:G:A Identity +NM_001005407.2:c.3579G>T NP_001005407.1:p.Leu1193= NC_000016.10:1209246:G:T p.(Leu1193=) NC_000016.10:1209246:G:T p.(Leu1193=) NC_000016.10:1209246:G:T Identity +NM_000393.5:c.2178A>T NP_000384.2:p.Gly726= NC_000002.12:189058479:T:A p.(Gly726=) NC_000002.12:189058479:T:A p.(Gly726=) NC_000002.12:189058479:T:A Identity +NM_013334.4:c.315C>T NP_037466.3:p.Phe105= NC_000003.12:49723058:G:A p.(Phe105=) NC_000003.12:49723058:G:A p.(Phe105=) NC_000003.12:49723058:G:A Identity +NM_001283009.2:c.2973G>A NP_001269938.1:p.Gln991= NC_000020.11:63693263:G:A p.(Gln991=) NC_000020.11:63693263:G:A p.(Gln991=) NC_000020.11:63693263:G:A Identity +NM_001144769.5:c.2169C>A NP_001138241.1:p.Ser723= NC_000006.12:56640364:G:T p.(Ser723=) NC_000006.12:56640364:G:T p.(Ser723=) NC_000006.12:56640364:G:T Identity +NM_001272003.2:c.255C>T NP_001258932.1:p.Arg85= NC_000009.12:135751005:C:T p.(Arg85=) NC_000009.12:135751005:C:T p.(Arg85=) NC_000009.12:135751005:C:T Identity +NM_001283009.2:c.3405G>A NP_001269938.1:p.Leu1135= NC_000020.11:63695126:G:A p.(Leu1135=) NC_000020.11:63695126:G:A p.(Leu1135=) NC_000020.11:63695126:G:A Identity +NM_001317799.2:c.1470A>G NP_001304728.1:p.Gly490= NC_000004.12:122947246:A:G p.(Gly490=) NC_000004.12:122947246:A:G p.(Gly490=) NC_000004.12:122947246:A:G Identity +NM_001283009.2:c.2535G>A NP_001269938.1:p.Ala845= NC_000020.11:63690925:G:A p.(Ala845=) NC_000020.11:63690925:G:A p.(Ala845=) NC_000020.11:63690925:G:A Identity +NM_001256850.1:c.53292C>T NP_001243779.1:p.Ala17764= NC_000002.12:178594177:G:A p.(Ala17764=) NC_000002.12:178594177:G:A p.(Ala17764=) NC_000002.12:178594177:G:A Identity +NM_001283009.2:c.900C>T NP_001269938.1:p.Ser300= NC_000020.11:63674073:C:T p.(Ser300=) NC_000020.11:63674073:C:T p.(Ser300=) NC_000020.11:63674073:C:T Identity +NM_001134363.3:c.150A>G NP_001127835.2:p.Pro50= NC_000010.11:110644603:A:G p.(Pro50=) NC_000010.11:110644603:A:G p.(Pro50=) NC_000010.11:110644603:A:G Identity +NM_152393.4:c.657C>T NP_689606.2:p.Thr219= NC_000003.12:42686274:C:T p.(Thr219=) NC_000003.12:42686274:C:T p.(Thr219=) NC_000003.12:42686274:C:T Identity +NM_001142864.4:c.4388AGCAGG[4] NP_001136336.2:p.1465EQ[3] NC_000016.10:88723258:CCTGCTCCTGCTCCTGCT:CCTGCTCCTGCTCCTGCTCCTGCT p.(Glu1467_Gln1468dup) NC_000016.10:88723275:T:CCTGCTCCTGCTCCTGCTCCTGCT ERR:Parse ERR:Parse Analogous +NM_001283009.2:c.3286C>T NP_001269938.1:p.Leu1096= NC_000020.11:63694916:C:T p.(Leu1096=) NC_000020.11:63694916:C:T p.(Leu1096=) NC_000020.11:63694916:C:T Identity +NM_004959.5:c.462C>T NP_004950.2:p.Ala154= NC_000009.12:124500497:G:A p.(Ala154=) NC_000009.12:124500497:G:A p.(Ala154=) NC_000009.12:124500497:G:A Identity +NM_000238.4:c.1404C>T NP_000229.1:p.Leu468= NC_000007.14:150952577:G:A p.(Leu468=) NC_000007.14:150952577:G:A p.(Leu468=) NC_000007.14:150952577:G:A Identity +NM_005249.5:c.339C>T NP_005240.3:p.Ala113= NC_000014.9:28767617:C:T p.(Ala113=) NC_000014.9:28767617:C:T p.(Ala113=) NC_000014.9:28767617:C:T Identity +NM_001905.4:c.369G>A NP_001896.2:p.Glu123= NC_000001.11:40987402:G:A p.(Glu123=) NC_000001.11:40987402:G:A p.(Glu123=) NC_000001.11:40987402:G:A Identity +NM_001256850.1:c.68670C>G NP_001243779.1:p.Val22890= NC_000002.12:178572538:G:C p.(Val22890=) NC_000002.12:178572538:G:C p.(Val22890=) NC_000002.12:178572538:G:C Identity +NM_006231.4:c.4299A>G NP_006222.2:p.Leu1433= NC_000012.12:132643551:T:C p.(Leu1433=) NC_000012.12:132643551:T:C p.(Leu1433=) NC_000012.12:132643551:T:C Identity +NM_001172509.2:c.205T>C NP_001165980.1:p.Leu69= NC_000002.12:199433478:A:G p.(Leu69=) NC_000002.12:199433478:A:G p.(Leu69=) NC_000002.12:199433478:A:G Identity +NM_001256850.1:c.852G>T NP_001243779.1:p.Ser284= NC_000002.12:178799548:C:A p.(Ser284=) NC_000002.12:178799548:C:A p.(Ser284=) NC_000002.12:178799548:C:A Identity +NM_001368263.1:c.879C>T NP_001355192.1:p.Gly293= NC_000003.12:45476487:C:T p.(Gly293=) NC_000003.12:45476487:C:T p.(Gly293=) NC_000003.12:45476487:C:T Identity +NM_001103.4:c.1794G>C NP_001094.1:p.Pro598= NC_000001.11:236751606:G:C p.(Pro598=) NC_000001.11:236751606:G:C p.(Pro598=) NC_000001.11:236751606:G:C Identity +NM_001077397.1:c.928C>T NP_001070865.1:p.Leu310= NC_000001.11:234608566:G:A p.(Leu310=) NC_000001.11:234608566:G:A p.(Leu310=) NC_000001.11:234608566:G:A Identity +NM_003320.5:c.762TGAGGAGGA[1] NP_003311.2:p.254DEE[1] NC_000011.10:8096710:GAGGATGAGGAGGATGAGGAGGA:GAGGATGAGGAGGA p.(Asp257_Glu259del) NC_000011.10:8096715:T:TGAGGAGGA ERR:Parse ERR:Parse Analogous +NM_001244710.2:c.686dup NP_001231639.1:p.Ala229_Arg230insTer NC_000002.12:69354311:G:GG p.(Arg230Ter) NC_000002.12:69354311:G:GG p.(Arg230Ter) ERR:SPDI Analogous +NM_015512.5:c.2955G>A NP_056327.4:p.Gln985= NC_000003.12:52352634:G:A p.(Gln985=) NC_000003.12:52352634:G:A p.(Gln985=) NC_000003.12:52352634:G:A Identity +NM_001144769.5:c.9546G>T NP_001138241.1:p.Ser3182= NC_000006.12:56552888:C:A p.(Ser3182=) NC_000006.12:56552888:C:A p.(Ser3182=) NC_000006.12:56552888:C:A Identity +NM_000388.4:c.801C>A NP_000379.3:p.Ile267= NC_000003.12:122261835:C:A p.(Ile267=) NC_000003.12:122261835:C:A p.(Ile267=) NC_000003.12:122261835:C:A Identity +NM_001256850.1:c.36570T>C NP_001243779.1:p.Ile12190= NC_000002.12:178636077:A:G p.(Ile12190=) NC_000002.12:178636077:A:G p.(Ile12190=) NC_000002.12:178636077:A:G Identity +NM_001199107.2:c.816C>T NP_001186036.1:p.Phe272= NC_000016.10:2496963:C:T p.(Phe272=) NC_000016.10:2496963:C:T p.(Phe272=) NC_000016.10:2496963:C:T Identity +NM_001283009.2:c.36C>T NP_001269938.1:p.Asp12= NC_000020.11:63659437:C:T p.(Asp12=) NC_000020.11:63659437:C:T p.(Asp12=) NC_000020.11:63659437:C:T Identity +NM_022168.4:c.1572C>T NP_071451.2:p.Asn524= NC_000002.12:162280064:G:A p.(Asn524=) NC_000002.12:162280064:G:A p.(Asn524=) NC_000002.12:162280064:G:A Identity +NM_001144769.5:c.13818G>A NP_001138241.1:p.Pro4606= NC_000006.12:56497426:C:T p.(Pro4606=) NC_000006.12:56497426:C:T p.(Pro4606=) NC_000006.12:56497426:C:T Identity +NM_032737.4:c.1539C>T NP_116126.3:p.Ile513= NC_000019.10:2432466:G:A p.(Ile513=) NC_000019.10:2432466:G:A p.(Ile513=) NC_000019.10:2432466:G:A Identity +NM_000388.4:c.2739C>A NP_000379.3:p.Ser913= NC_000003.12:122284692:C:A p.(Ser913=) NC_000003.12:122284692:C:A p.(Ser913=) NC_000003.12:122284692:C:A Identity +NM_001256850.1:c.5586C>T NP_001243779.1:p.Cys1862= NC_000002.12:178776277:G:A p.(Cys1862=) NC_000002.12:178776277:G:A p.(Cys1862=) NC_000002.12:178776277:G:A Identity +NM_001256850.1:c.62562T>C NP_001243779.1:p.Asn20854= NC_000002.12:178579711:A:G p.(Asn20854=) NC_000002.12:178579711:A:G p.(Asn20854=) NC_000002.12:178579711:A:G Identity +NM_000834.5:c.9C>T NP_000825.2:p.Pro3= NC_000012.12:13866199:G:A p.(Pro3=) NC_000012.12:13866199:G:A p.(Pro3=) NC_000012.12:13866199:G:A Identity +NM_001272003.2:c.2967C>T NP_001258932.1:p.Ala989= NC_000009.12:135784834:C:T p.(Ala989=) NC_000009.12:135784834:C:T p.(Ala989=) NC_000009.12:135784834:C:T Identity +NM_033071.5:c.6543C>T NP_149062.2:p.Thr2181= NC_000006.12:152409085:G:A p.(Thr2181=) NC_000006.12:152409085:G:A p.(Thr2181=) NC_000006.12:152409085:G:A Identity +NM_015662.3:c.3103C>T NP_056477.1:p.Leu1035= NC_000002.12:27457848:G:A p.(Leu1035=) NC_000002.12:27457848:G:A p.(Leu1035=) NC_000002.12:27457848:G:A Identity +NM_001031714.4:c.255G>T NP_001026884.3:p.Ser85= NC_000014.9:104701619:G:T p.(Ser85=) NC_000014.9:104701619:G:T p.(Ser85=) NC_000014.9:104701619:G:T Identity +NM_001256850.1:c.31512G>A NP_001243779.1:p.Pro10504= NC_000002.12:178685259:C:T p.(Pro10504=) NC_000002.12:178685259:C:T p.(Pro10504=) NC_000002.12:178685259:C:T Identity +NM_033071.5:c.8254T>C NP_149062.2:p.Leu2752= NC_000006.12:152387325:A:G p.(Leu2752=) NC_000006.12:152387325:A:G p.(Leu2752=) NC_000006.12:152387325:A:G Identity +NM_001272003.2:c.2037C>G NP_001258932.1:p.Pro679= NC_000009.12:135772877:C:G p.(Pro679=) NC_000009.12:135772877:C:G p.(Pro679=) NC_000009.12:135772877:C:G Identity +NM_001289396.2:c.51G>C NP_001276325.1:p.Pro17= NC_000009.12:2029072:G:C p.(Pro17=) NC_000009.12:2029072:G:C p.(Pro17=) NC_000009.12:2029072:G:C Identity +NM_020778.5:c.3555_3560dup NP_065829.4:p.Arg1186_Glu1187dup NC_000015.10:84858290:GAAAGGGA:GAAAGGGAAAGGGA p.(Arg1186_Glu1187dup) NC_000015.10:84858290:GAAAGGGA:GAAAGGGAAAGGGA p.(Arg1186_Glu1187dup) ERR:SPDI Identity +NM_000180.4:c.2943G>A NP_000171.1:p.Ser981= NC_000017.11:8015500:G:A p.(Ser981=) NC_000017.11:8015500:G:A p.(Ser981=) NC_000017.11:8015500:G:A Identity +NM_001005407.2:c.6768C>T NP_001005407.1:p.Thr2256= NC_000016.10:1220717:C:T p.(Thr2256=) NC_000016.10:1220717:C:T p.(Thr2256=) NC_000016.10:1220717:C:T Identity +NM_001005407.2:c.1695A>C NP_001005407.1:p.Gly565= NC_000016.10:1202144:A:C p.(Gly565=) NC_000016.10:1202144:A:C p.(Gly565=) NC_000016.10:1202144:A:C Identity +NM_001283009.2:c.1494C>T NP_001269938.1:p.Val498= NC_000020.11:63687948:C:T p.(Val498=) NC_000020.11:63687948:C:T p.(Val498=) NC_000020.11:63687948:C:T Identity +NM_001371271.1:c.3516G>A NP_001358200.1:p.Ala1172= NC_000002.12:120989429:G:A p.(Ala1172=) NC_000002.12:120989429:G:A p.(Ala1172=) NC_000002.12:120989429:G:A Identity +NM_001256850.1:c.17445T>C NP_001243779.1:p.Thr5815= NC_000002.12:178729856:A:G p.(Thr5815=) NC_000002.12:178729856:A:G p.(Thr5815=) NC_000002.12:178729856:A:G Identity +NM_001103.4:c.2508G>A NP_001094.1:p.Arg836= NC_000001.11:236761154:G:A p.(Arg836=) NC_000001.11:236761154:G:A p.(Arg836=) NC_000001.11:236761154:G:A Identity +NM_001256850.1:c.75468A>C NP_001243779.1:p.Ala25156= NC_000002.12:178565740:T:G p.(Ala25156=) NC_000002.12:178565740:T:G p.(Ala25156=) NC_000002.12:178565740:T:G Identity +NM_001256850.1:c.74655C>T NP_001243779.1:p.Ile24885= NC_000002.12:178566553:G:A p.(Ile24885=) NC_000002.12:178566553:G:A p.(Ile24885=) NC_000002.12:178566553:G:A Identity +NM_000278.5:c.186C>T NP_000269.3:p.His62= NC_000010.11:100749887:C:T p.(His62=) NC_000010.11:100749887:C:T p.(His62=) NC_000010.11:100749887:C:T Identity +NM_015512.5:c.4044C>T NP_056327.4:p.Ala1348= NC_000003.12:52357960:C:T p.(Ala1348=) NC_000003.12:52357960:C:T p.(Ala1348=) NC_000003.12:52357960:C:T Identity +NM_005266.7:c.447G>C NP_005257.2:p.Leu149= NC_000001.11:147758791:C:G p.(Leu149=) NC_000001.11:147758791:C:G p.(Leu149=) NC_000001.11:147758791:C:G Identity +NM_001256850.1:c.52947C>T NP_001243779.1:p.Asp17649= NC_000002.12:178594623:G:A p.(Asp17649=) NC_000002.12:178594623:G:A p.(Asp17649=) NC_000002.12:178594623:G:A Identity +NM_001267550.2:c.36486A>G NP_001254479.2:p.Lys12162= NC_000002.12:178663672:T:C p.(Lys12162=) NC_000002.12:178663672:T:C p.(Lys12162=) NC_000002.12:178663672:T:C Identity +NM_001256850.1:c.13833C>T NP_001243779.1:p.Leu4611= NC_000002.12:178735661:G:A p.(Leu4611=) NC_000002.12:178735661:G:A p.(Leu4611=) NC_000002.12:178735661:G:A Identity +NM_001256850.1:c.18933T>C NP_001243779.1:p.Thr6311= NC_000002.12:178727693:A:G p.(Thr6311=) NC_000002.12:178727693:A:G p.(Thr6311=) NC_000002.12:178727693:A:G Identity +NM_022168.4:c.2478T>C NP_071451.2:p.Asp826= NC_000002.12:162272363:A:G p.(Asp826=) NC_000002.12:162272363:A:G p.(Asp826=) NC_000002.12:162272363:A:G Identity +NM_001142298.2:c.519C>T NP_001135770.1:p.Ile173= NC_000005.10:179833047:C:T p.(Ile173=) NC_000005.10:179833047:C:T p.(Ile173=) NC_000005.10:179833047:C:T Identity +NM_001256850.1:c.101022A>G NP_001243779.1:p.Lys33674= NC_000002.12:178530669:T:C p.(Lys33674=) NC_000002.12:178530669:T:C p.(Lys33674=) NC_000002.12:178530669:T:C Identity +NM_001256850.1:c.13824G>A NP_001243779.1:p.Gly4608= NC_000002.12:178735670:C:T p.(Gly4608=) NC_000002.12:178735670:C:T p.(Gly4608=) NC_000002.12:178735670:C:T Identity +NM_001256850.1:c.27078C>T NP_001243779.1:p.Asp9026= NC_000002.12:178711206:G:A p.(Asp9026=) NC_000002.12:178711206:G:A p.(Asp9026=) NC_000002.12:178711206:G:A Identity +NM_001256850.1:c.88410A>G NP_001243779.1:p.Thr29470= NC_000002.12:178548292:T:C p.(Thr29470=) NC_000002.12:178548292:T:C p.(Thr29470=) NC_000002.12:178548292:T:C Identity +NM_000387.6:c.191_192del NP_000378.1:p.Leu63_Phe64insTer NC_000003.12:48891985:AAAAA:AAA p.(Phe64Ter) NC_000003.12:48891985:AAAAA:AAA p.(Phe64Ter) NC_000003.12:48891985:AA: Analogous +NM_001382708.1:c.204G>A NP_001369637.1:p.Ser68= NC_000002.12:219418665:G:A p.(Ser68=) NC_000002.12:219418665:G:A p.(Ser68=) NC_000002.12:219418665:G:A Identity +NM_001256850.1:c.69510T>A NP_001243779.1:p.Pro23170= NC_000002.12:178571698:A:T p.(Pro23170=) NC_000002.12:178571698:A:T p.(Pro23170=) NC_000002.12:178571698:A:T Identity +NM_001256850.1:c.15285C>T NP_001243779.1:p.Ala5095= NC_000002.12:178732939:G:A p.(Ala5095=) NC_000002.12:178732939:G:A p.(Ala5095=) NC_000002.12:178732939:G:A Identity +NM_000248.4:c.969C>T NP_000239.1:p.Asn323= NC_000003.12:69964956:C:T p.(Asn323=) NC_000003.12:69964956:C:T p.(Asn323=) NC_000003.12:69964956:C:T Identity +NM_001199138.2:c.2568A>G NP_001186067.1:p.Ser856= NC_000002.12:32236292:T:C p.(Ser856=) NC_000002.12:32236292:T:C p.(Ser856=) NC_000002.12:32236292:T:C Identity +NM_001256850.1:c.77865T>C NP_001243779.1:p.Tyr25955= NC_000002.12:178563343:A:G p.(Tyr25955=) NC_000002.12:178563343:A:G p.(Tyr25955=) NC_000002.12:178563343:A:G Identity +NM_015512.5:c.10323G>C NP_056327.4:p.Leu3441= NC_000003.12:52392873:G:C p.(Leu3441=) NC_000003.12:52392873:G:C p.(Leu3441=) NC_000003.12:52392873:G:C Identity +NM_001324281.3:c.3051G>A NP_001311210.1:p.Arg1017= NC_000007.14:2912264:C:T p.(Arg1017=) NC_000007.14:2912264:C:T p.(Arg1017=) NC_000007.14:2912264:C:T Identity +NM_001723.7:c.6699T>C NP_001714.1:p.Asn2233= NC_000006.12:56616767:A:G p.(Asn2233=) NC_000006.12:56616767:A:G p.(Asn2233=) NC_000006.12:56616767:A:G Identity +NM_001256850.1:c.92214T>C NP_001243779.1:p.Leu30738= NC_000002.12:178542716:A:G p.(Leu30738=) NC_000002.12:178542716:A:G p.(Leu30738=) NC_000002.12:178542716:A:G Identity +NM_001283009.2:c.3057A>G NP_001269938.1:p.Gln1019= NC_000020.11:63694435:A:G p.(Gln1019=) NC_000020.11:63694435:A:G p.(Gln1019=) NC_000020.11:63694435:A:G Identity +NM_000248.4:c.555C>T NP_000239.1:p.Leu185= NC_000003.12:69949163:C:T p.(Leu185=) NC_000003.12:69949163:C:T p.(Leu185=) NC_000003.12:69949163:C:T Identity +NM_001256850.1:c.44337G>A NP_001243779.1:p.Glu14779= NC_000002.12:178614136:C:T p.(Glu14779=) NC_000002.12:178614136:C:T p.(Glu14779=) NC_000002.12:178614136:C:T Identity +NM_001371271.1:c.321G>T NP_001358200.1:p.Pro107= NC_000002.12:120951308:G:T p.(Pro107=) NC_000002.12:120951308:G:T p.(Pro107=) NC_000002.12:120951308:G:T Identity +NM_001256850.1:c.90426G>A NP_001243779.1:p.Arg30142= NC_000002.12:178545886:C:T p.(Arg30142=) NC_000002.12:178545886:C:T p.(Arg30142=) NC_000002.12:178545886:C:T Identity +NM_001256850.1:c.95004G>T NP_001243779.1:p.Val31668= NC_000002.12:178537181:C:A p.(Val31668=) NC_000002.12:178537181:C:A p.(Val31668=) NC_000002.12:178537181:C:A Identity +NM_000280.6:c.1119C>G NP_000271.1:p.Thr373= NC_000011.10:31790773:G:C p.(Thr373=) NC_000011.10:31790773:G:C p.(Thr373=) NC_000011.10:31790773:G:C Identity +NM_001349253.2:c.2001A>G NP_001336182.1:p.Pro667= NC_000003.12:38899914:T:C p.(Pro667=) NC_000003.12:38899914:T:C p.(Pro667=) NC_000003.12:38899914:T:C Identity +NM_001267550.2:c.40041A>G NP_001254479.2:p.Glu13347= NC_000002.12:178649263:T:C p.(Glu13347=) NC_000002.12:178649263:T:C p.(Glu13347=) NC_000002.12:178649263:T:C Identity +NM_001324281.3:c.780G>T NP_001311210.1:p.Arg260= NC_000007.14:2939832:C:A p.(Arg260=) NC_000007.14:2939832:C:A p.(Arg260=) NC_000007.14:2939832:C:A Identity +NM_001256850.1:c.99231G>A NP_001243779.1:p.Lys33077= NC_000002.12:178532460:C:T p.(Lys33077=) NC_000002.12:178532460:C:T p.(Lys33077=) NC_000002.12:178532460:C:T Identity +NM_001256850.1:c.8340G>A NP_001243779.1:p.Arg2780= NC_000002.12:178770451:C:T p.(Arg2780=) NC_000002.12:178770451:C:T p.(Arg2780=) NC_000002.12:178770451:C:T Identity +NM_033071.5:c.20835G>T NP_149062.2:p.Leu6945= NC_000006.12:152230693:C:A p.(Leu6945=) NC_000006.12:152230693:C:A p.(Leu6945=) NC_000006.12:152230693:C:A Identity +NM_001199107.2:c.147C>G NP_001186036.1:p.Ala49= NC_000016.10:2496294:C:G p.(Ala49=) NC_000016.10:2496294:C:G p.(Ala49=) NC_000016.10:2496294:C:G Identity +NM_001256850.1:c.32715G>T NP_001243779.1:p.Val10905= NC_000002.12:178679414:C:A p.(Val10905=) NC_000002.12:178679414:C:A p.(Val10905=) NC_000002.12:178679414:C:A Identity +NM_000161.3:c.258C>T NP_000152.1:p.Pro86= NC_000014.9:54902405:G:A p.(Pro86=) NC_000014.9:54902405:G:A p.(Pro86=) NC_000014.9:54902405:G:A Identity +NM_001349253.2:c.966T>C NP_001336182.1:p.Cys322= NC_000003.12:38910200:A:G p.(Cys322=) NC_000003.12:38910200:A:G p.(Cys322=) NC_000003.12:38910200:A:G Identity +NM_001256850.1:c.51840G>A NP_001243779.1:p.Leu17280= NC_000002.12:178598946:C:T p.(Leu17280=) NC_000002.12:178598946:C:T p.(Leu17280=) NC_000002.12:178598946:C:T Identity +NM_001160302.2:c.303T>A NP_001153774.1:p.Thr101= NC_000021.9:32700013:A:T p.(Thr101=) NC_000021.9:32700013:A:T p.(Thr101=) NC_000021.9:32700013:A:T Identity +NM_001256850.1:c.17832T>C NP_001243779.1:p.Cys5944= NC_000002.12:178729372:A:G p.(Cys5944=) NC_000002.12:178729372:A:G p.(Cys5944=) NC_000002.12:178729372:A:G Identity +NM_001256850.1:c.38493A>G NP_001243779.1:p.Glu12831= NC_000002.12:178632589:T:C p.(Glu12831=) NC_000002.12:178632589:T:C p.(Glu12831=) NC_000002.12:178632589:T:C Identity +NM_001349253.2:c.1794T>C NP_001336182.1:p.His598= NC_000003.12:38903912:A:G p.(His598=) NC_000003.12:38903912:A:G p.(His598=) NC_000003.12:38903912:A:G Identity +NM_001170634.1:c.1422C>T NP_001164105.1:p.Gly474= NC_000016.10:31190993:C:T p.(Gly474=) NC_000016.10:31190993:C:T p.(Gly474=) NC_000016.10:31190993:C:T Identity +NM_001256850.1:c.47934C>T NP_001243779.1:p.Cys15978= NC_000002.12:178607929:G:A p.(Cys15978=) NC_000002.12:178607929:G:A p.(Cys15978=) NC_000002.12:178607929:G:A Identity +NM_001256850.1:c.18099A>G NP_001243779.1:p.Gln6033= NC_000002.12:178728987:T:C p.(Gln6033=) NC_000002.12:178728987:T:C p.(Gln6033=) NC_000002.12:178728987:T:C Identity +NM_001317799.2:c.1050T>A NP_001304728.1:p.Thr350= NC_000004.12:122934643:T:A p.(Thr350=) NC_000004.12:122934643:T:A p.(Thr350=) NC_000004.12:122934643:T:A Identity +NM_001103.4:c.1320G>A NP_001094.1:p.Leu440= NC_000001.11:236744689:G:A p.(Leu440=) NC_000001.11:236744689:G:A p.(Leu440=) NC_000001.11:236744689:G:A Identity +NM_001256850.1:c.32196A>G NP_001243779.1:p.Thr10732= NC_000002.12:178681685:T:C p.(Thr10732=) NC_000002.12:178681685:T:C p.(Thr10732=) NC_000002.12:178681685:T:C Identity +NM_001410739.1:c.1098A>G NP_001397668.1:p.Glu366= NC_000002.12:27478063:T:C p.(Glu366=) NC_000002.12:27478063:T:C p.(Glu366=) NC_000002.12:27478063:T:C Identity +NM_001256850.1:c.30225A>G NP_001243779.1:p.Glu10075= NC_000002.12:178695895:T:C p.(Glu10075=) NC_000002.12:178695895:T:C p.(Glu10075=) NC_000002.12:178695895:T:C Identity +NM_003673.4:c.96A>C NP_003664.1:p.Thr32= NC_000017.11:39665454:A:C p.(Thr32=) NC_000017.11:39665454:A:C p.(Thr32=) NC_000017.11:39665454:A:C Identity +NM_001010867.4:c.996C>T NP_001010867.1:p.His332= NC_000001.11:228175437:C:T p.(His332=) NC_000001.11:228175437:C:T p.(His332=) NC_000001.11:228175437:C:T Identity +NM_001256850.1:c.90531G>T NP_001243779.1:p.Gly30177= NC_000002.12:178545655:C:A p.(Gly30177=) NC_000002.12:178545655:C:A p.(Gly30177=) NC_000002.12:178545655:C:A Identity +NM_001317799.2:c.453T>C NP_001304728.1:p.Asp151= NC_000004.12:122933447:T:C p.(Asp151=) NC_000004.12:122933447:T:C p.(Asp151=) NC_000004.12:122933447:T:C Identity +NM_000180.4:c.2940C>T NP_000171.1:p.His980= NC_000017.11:8015497:C:T p.(His980=) NC_000017.11:8015497:C:T p.(His980=) NC_000017.11:8015497:C:T Identity +NM_001256850.1:c.34746T>G NP_001243779.1:p.Pro11582= NC_000002.12:178652123:A:C p.(Pro11582=) NC_000002.12:178652123:A:C p.(Pro11582=) NC_000002.12:178652123:A:C Identity +NM_001317799.2:c.1098A>G NP_001304728.1:p.Glu366= NC_000004.12:122934691:A:G p.(Glu366=) NC_000004.12:122934691:A:G p.(Glu366=) NC_000004.12:122934691:A:G Identity +NM_001355016.2:c.757C>A NP_001341945.1:p.Arg253= NC_000005.10:150132927:G:T p.(Arg253=) NC_000005.10:150132927:G:T p.(Arg253=) NC_000005.10:150132927:G:T Identity +NM_001256850.1:c.94689G>A NP_001243779.1:p.Glu31563= NC_000002.12:178537594:C:T p.(Glu31563=) NC_000002.12:178537594:C:T p.(Glu31563=) NC_000002.12:178537594:C:T Identity +NM_001256850.1:c.99558A>G NP_001243779.1:p.Arg33186= NC_000002.12:178532133:T:C p.(Arg33186=) NC_000002.12:178532133:T:C p.(Arg33186=) NC_000002.12:178532133:T:C Identity +NM_001256850.1:c.29826T>A NP_001243779.1:p.Pro9942= NC_000002.12:178697145:A:T p.(Pro9942=) NC_000002.12:178697145:A:T p.(Pro9942=) NC_000002.12:178697145:A:T Identity +NM_033071.5:c.11028C>T NP_149062.2:p.Leu3676= NC_000006.12:152353597:G:A p.(Leu3676=) NC_000006.12:152353597:G:A p.(Leu3676=) NC_000006.12:152353597:G:A Identity +NM_001256850.1:c.92856T>A NP_001243779.1:p.Val30952= NC_000002.12:178541297:A:T p.(Val30952=) NC_000002.12:178541297:A:T p.(Val30952=) NC_000002.12:178541297:A:T Identity +NM_001256850.1:c.10224A>G NP_001243779.1:p.Pro3408= NC_000002.12:178759062:T:C p.(Pro3408=) NC_000002.12:178759062:T:C p.(Pro3408=) NC_000002.12:178759062:T:C Identity +NM_001272003.2:c.945G>C NP_001258932.1:p.Gly315= NC_000009.12:135765074:G:C p.(Gly315=) NC_000009.12:135765074:G:C p.(Gly315=) NC_000009.12:135765074:G:C Identity +NM_001349253.2:c.2733T>C NP_001336182.1:p.His911= NC_000003.12:38894634:A:G p.(His911=) NC_000003.12:38894634:A:G p.(His911=) NC_000003.12:38894634:A:G Identity +NM_001256850.1:c.22206G>A NP_001243779.1:p.Val7402= NC_000002.12:178720604:C:T p.(Val7402=) NC_000002.12:178720604:C:T p.(Val7402=) NC_000002.12:178720604:C:T Identity +NM_001256850.1:c.20355G>A NP_001243779.1:p.Gln6785= NC_000002.12:178723952:C:T p.(Gln6785=) NC_000002.12:178723952:C:T p.(Gln6785=) NC_000002.12:178723952:C:T Identity +NM_001317924.2:c.2580A>G NP_001304853.1:p.Glu860= NC_000004.12:39255905:A:G p.(Glu860=) NC_000004.12:39255905:A:G p.(Glu860=) NC_000004.12:39255905:A:G Identity +NM_001256850.1:c.65946T>C NP_001243779.1:p.Ile21982= NC_000002.12:178575262:A:G p.(Ile21982=) NC_000002.12:178575262:A:G p.(Ile21982=) NC_000002.12:178575262:A:G Identity +NM_001305005.3:c.1449C>T NP_001291934.1:p.Ala483= NC_000002.12:108010566:C:T p.(Ala483=) NC_000002.12:108010566:C:T p.(Ala483=) NC_000002.12:108010566:C:T Identity +NM_001256850.1:c.66459A>G NP_001243779.1:p.Gly22153= NC_000002.12:178574749:T:C p.(Gly22153=) NC_000002.12:178574749:T:C p.(Gly22153=) NC_000002.12:178574749:T:C Identity +NM_001256850.1:c.97839G>T NP_001243779.1:p.Leu32613= NC_000002.12:178533852:C:A p.(Leu32613=) NC_000002.12:178533852:C:A p.(Leu32613=) NC_000002.12:178533852:C:A Identity +NM_001256850.1:c.30888A>G NP_001243779.1:p.Pro10296= NC_000002.12:178689819:T:C p.(Pro10296=) NC_000002.12:178689819:T:C p.(Pro10296=) NC_000002.12:178689819:T:C Identity +NM_001256850.1:c.77247A>G NP_001243779.1:p.Ala25749= NC_000002.12:178563961:T:C p.(Ala25749=) NC_000002.12:178563961:T:C p.(Ala25749=) NC_000002.12:178563961:T:C Identity +NM_033071.5:c.13128C>T NP_149062.2:p.Tyr4376= NC_000006.12:152331343:G:A p.(Tyr4376=) NC_000006.12:152331343:G:A p.(Tyr4376=) NC_000006.12:152331343:G:A Identity +NM_004990.4:c.951A>C NP_004981.2:p.Ala317= NC_000012.12:57498482:A:C p.(Ala317=) NC_000012.12:57498482:A:C p.(Ala317=) NC_000012.12:57498482:A:C Identity +NM_000834.5:c.2161C>T NP_000825.2:p.Leu721= NC_000012.12:13571813:G:A p.(Leu721=) NC_000012.12:13571813:G:A p.(Leu721=) NC_000012.12:13571813:G:A Identity +NM_001144769.5:c.8301C>T NP_001138241.1:p.Phe2767= NC_000006.12:56555822:G:A p.(Phe2767=) NC_000006.12:56555822:G:A p.(Phe2767=) NC_000006.12:56555822:G:A Identity +NM_001257361.2:c.1191G>A NP_001244290.1:p.Gly397= NC_000001.11:109628470:G:A p.(Gly397=) NC_000001.11:109628470:G:A p.(Gly397=) NC_000001.11:109628470:G:A Identity +NM_001256850.1:c.98667G>A NP_001243779.1:p.Lys32889= NC_000002.12:178533024:C:T p.(Lys32889=) NC_000002.12:178533024:C:T p.(Lys32889=) NC_000002.12:178533024:C:T Identity +NM_000161.3:c.73C>A NP_000152.1:p.Arg25= NC_000014.9:54902590:G:T p.(Arg25=) NC_000014.9:54902590:G:T p.(Arg25=) NC_000014.9:54902590:G:T Identity +NM_015512.5:c.297C>T NP_056327.4:p.Ser99= NC_000003.12:52322738:C:T p.(Ser99=) NC_000003.12:52322738:C:T p.(Ser99=) NC_000003.12:52322738:C:T Identity +NM_001256850.1:c.50994G>A NP_001243779.1:p.Val16998= NC_000002.12:178600986:C:T p.(Val16998=) NC_000002.12:178600986:C:T p.(Val16998=) NC_000002.12:178600986:C:T Identity +NM_001382708.1:c.678C>G NP_001369637.1:p.Arg226= NC_000002.12:219420291:C:G p.(Arg226=) NC_000002.12:219420291:C:G p.(Arg226=) NC_000002.12:219420291:C:G Identity +NM_001134477.3:c.429A>G NP_001127949.1:p.Pro143= NC_000016.10:14609065:T:C p.(Pro143=) NC_000016.10:14609065:T:C p.(Pro143=) NC_000016.10:14609065:T:C Identity +NM_001256850.1:c.45852C>T NP_001243779.1:p.Val15284= NC_000002.12:178611453:G:A p.(Val15284=) NC_000002.12:178611453:G:A p.(Val15284=) NC_000002.12:178611453:G:A Identity +NM_033071.5:c.10635A>G NP_149062.2:p.Leu3545= NC_000006.12:152354970:T:C p.(Leu3545=) NC_000006.12:152354970:T:C p.(Leu3545=) NC_000006.12:152354970:T:C Identity +NM_001324281.3:c.1266G>A NP_001311210.1:p.Val422= NC_000007.14:2937111:C:T p.(Val422=) NC_000007.14:2937111:C:T p.(Val422=) NC_000007.14:2937111:C:T Identity +NM_001130847.4:c.66C>T NP_001124319.1:p.Thr22= NC_000023.11:130165590:G:A p.(Thr22=) NC_000023.11:130165590:G:A p.(Thr22=) NC_000023.11:130165590:G:A Identity +NM_001317799.2:c.1617A>C NP_001304728.1:p.Val539= NC_000004.12:122947393:A:C p.(Val539=) NC_000004.12:122947393:A:C p.(Val539=) NC_000004.12:122947393:A:C Identity +NM_001256850.1:c.22695C>G NP_001243779.1:p.Val7565= NC_000002.12:178719995:G:C p.(Val7565=) NC_000002.12:178719995:G:C p.(Val7565=) NC_000002.12:178719995:G:C Identity +NM_001256850.1:c.63978T>C NP_001243779.1:p.Asn21326= NC_000002.12:178577433:A:G p.(Asn21326=) NC_000002.12:178577433:A:G p.(Asn21326=) NC_000002.12:178577433:A:G Identity +NM_001256850.1:c.60996T>C NP_001243779.1:p.Ala20332= NC_000002.12:178582536:A:G p.(Ala20332=) NC_000002.12:178582536:A:G p.(Ala20332=) NC_000002.12:178582536:A:G Identity +NM_001272003.2:c.1083C>T NP_001258932.1:p.Ile361= NC_000009.12:135765640:C:T p.(Ile361=) NC_000009.12:135765640:C:T p.(Ile361=) NC_000009.12:135765640:C:T Identity +NM_001283009.2:c.660C>T NP_001269938.1:p.Asp220= NC_000020.11:63667513:C:T p.(Asp220=) NC_000020.11:63667513:C:T p.(Asp220=) NC_000020.11:63667513:C:T Identity +NM_001256850.1:c.81469A>C NP_001243779.1:p.Arg27157= NC_000002.12:178559739:T:G p.(Arg27157=) NC_000002.12:178559739:T:G p.(Arg27157=) NC_000002.12:178559739:T:G Identity +NM_001347839.2:c.3550_3555del NP_001334768.1:p.Pro1184_Ala1185del NC_000012.12:45851668:TGCACCTGCA:TGCA p.(Pro1184_Ala1185del) NC_000012.12:45851668:TGCACCTGCA:TGCA p.(Pro1184_Ala1185del) NC_000012.12:45851672:CCTGCA: Identity +NM_000421.5:c.1209_1210delinsTT NP_000412.4:p.Gln403_Leu404delinsHisPhe NC_000017.11:40819679:GC:AA p.(Gln403_Leu404delinsHisPhe) NC_000017.11:40819679:GC:AA p.(Gln403_Leu404delinsHisPhe) NC_000017.11:40819679:GC:AA Identity +NM_001127713.1:c.1410G>A NP_001121185.1:p.Leu470= NC_000014.9:50628320:G:A p.(Leu470=) NC_000014.9:50628320:G:A p.(Leu470=) NC_000014.9:50628320:G:A Identity +NM_001303052.2:c.456_461del NP_001289981.1:p.Glu166_Glu167del NC_000002.12:1943025:TCTTCTTC:TC p.(Glu166_Glu167del) NC_000002.12:1943025:TCTTCTTC:TC p.(Glu166_Glu167del) NC_000002.12:1943025:TCTTCT: Identity +NM_000530.8:c.276G>A NP_000521.2:p.Val92= NC_000001.11:161306879:C:T p.(Val92=) NC_000001.11:161306879:C:T p.(Val92=) NC_000001.11:161306879:C:T Identity +NM_000552.5:c.2103C>T NP_000543.3:p.Cys701= NC_000012.12:6052625:G:A p.(Cys701=) NC_000012.12:6052625:G:A p.(Cys701=) NC_000012.12:6052625:G:A Identity +NM_014845.6:c.2241G>C NP_055660.1:p.Pro747= NC_000006.12:109791435:G:C p.(Pro747=) NC_000006.12:109791435:G:C p.(Pro747=) NC_000006.12:109791435:G:C Identity +NM_000399.5:c.507G>A NP_000390.2:p.Pro169= NC_000010.11:62814130:C:T p.(Pro169=) NC_000010.11:62814130:C:T p.(Pro169=) NC_000010.11:62814130:C:T Identity +NM_000304.4:c.327C>T NP_000295.1:p.Cys109= NC_000017.11:15231072:G:A p.(Cys109=) NC_000017.11:15231072:G:A p.(Cys109=) NC_000017.11:15231072:G:A Identity +NM_000399.5:c.126C>G NP_000390.2:p.Ala42= NC_000010.11:62815903:G:C p.(Ala42=) NC_000010.11:62815903:G:C p.(Ala42=) NC_000010.11:62815903:G:C Identity +NM_006267.5:c.7602A>G NP_006258.3:p.Ala2534= NC_000002.12:108768140:A:G p.(Ala2534=) NC_000002.12:108768140:A:G p.(Ala2534=) NC_000002.12:108768140:A:G Identity +NM_001127660.2:c.1086G>A NP_001121132.1:p.Thr362= NC_000001.11:12002028:G:A p.(Thr362=) NC_000001.11:12002028:G:A p.(Thr362=) NC_000001.11:12002028:G:A Identity +NM_001378355.1:c.234C>T NP_001365284.1:p.Pro78= NC_000019.10:49819224:C:T p.(Pro78=) NC_000019.10:49819224:C:T p.(Pro78=) NC_000019.10:49819224:C:T Identity +NM_181882.3:c.2496A>T NP_870998.2:p.Val832= NC_000019.10:40395855:T:A p.(Val832=) NC_000019.10:40395855:T:A p.(Val832=) NC_000019.10:40395855:T:A Identity +NM_181882.3:c.2100C>T NP_870998.2:p.Ala700= NC_000019.10:40396251:G:A p.(Ala700=) NC_000019.10:40396251:G:A p.(Ala700=) NC_000019.10:40396251:G:A Identity +NM_000530.8:c.372G>A NP_000521.2:p.Thr124= NC_000001.11:161306783:C:T p.(Thr124=) NC_000001.11:161306783:C:T p.(Thr124=) NC_000001.11:161306783:C:T Identity +NM_181882.3:c.3726G>T NP_870998.2:p.Gly1242= NC_000019.10:40394625:C:A p.(Gly1242=) NC_000019.10:40394625:C:A p.(Gly1242=) NC_000019.10:40394625:C:A Identity +NM_181882.3:c.3309G>T NP_870998.2:p.Thr1103= NC_000019.10:40395042:C:A p.(Thr1103=) NC_000019.10:40395042:C:A p.(Thr1103=) NC_000019.10:40395042:C:A Identity +NM_001378355.1:c.801C>T NP_001365284.1:p.Pro267= NC_000019.10:49830199:C:T p.(Pro267=) NC_000019.10:49830199:C:T p.(Pro267=) NC_000019.10:49830199:C:T Identity +NM_001378355.1:c.138T>C NP_001365284.1:p.Tyr46= NC_000019.10:49818573:T:C p.(Tyr46=) NC_000019.10:49818573:T:C p.(Tyr46=) NC_000019.10:49818573:T:C Identity +NM_001378355.1:c.1593C>T NP_001365284.1:p.Ser531= NC_000019.10:49835095:C:T p.(Ser531=) NC_000019.10:49835095:C:T p.(Ser531=) NC_000019.10:49835095:C:T Identity +NM_000298.6:c.993C>T NP_000289.1:p.Asp331= NC_000001.11:155294357:G:A p.(Asp331=) NC_000001.11:155294357:G:A p.(Asp331=) NC_000001.11:155294357:G:A Identity +NM_001316772.1:c.549A>G NP_001303701.1:p.Ser183= NC_000007.14:30603547:A:G p.(Ser183=) NC_000007.14:30603547:A:G p.(Ser183=) NC_000007.14:30603547:A:G Identity +NM_001605.3:c.540C>T NP_001596.2:p.Asp180= NC_000016.10:70271911:G:A p.(Asp180=) NC_000016.10:70271911:G:A p.(Asp180=) NC_000016.10:70271911:G:A Identity +NM_001316772.1:c.1644A>G NP_001303701.1:p.Arg548= NC_000007.14:30628665:A:G p.(Arg548=) NC_000007.14:30628665:A:G p.(Arg548=) NC_000007.14:30628665:A:G Identity +NM_005259.3:c.897C>T NP_005250.1:p.Ile299= NC_000002.12:190057488:G:A p.(Ile299=) NC_000002.12:190057488:G:A p.(Ile299=) NC_000002.12:190057488:G:A Identity +NM_001378355.1:c.2037G>A NP_001365284.1:p.Leu679= NC_000019.10:49836296:G:A p.(Leu679=) NC_000019.10:49836296:G:A p.(Leu679=) NC_000019.10:49836296:G:A Identity +NM_001082486.2:c.817_828del NP_001075955.2:p.Pro273_Ser276del NC_000016.10:67658555:TGAGGAACTGGGTGAGGAA:TGAGGAA p.(Pro273_Ser276del) NC_000016.10:67658555:TGAGGAACTGGGTGAGGAA:TGAGGAA p.(Pro273_Ser276del) NC_000016.10:67658555:TGAGGAACTGGG: Identity +NM_152443.3:c.525G>A NP_689656.2:p.Ser175= NC_000014.9:67727056:G:A p.(Ser175=) NC_000014.9:67727056:G:A p.(Ser175=) NC_000014.9:67727056:G:A Identity +NM_001365999.1:c.8703G>A NP_001352928.1:p.Pro2901= NC_000001.11:43443673:G:A p.(Pro2901=) NC_000001.11:43443673:G:A p.(Pro2901=) NC_000001.11:43443673:G:A Identity +NM_001365951.3:c.2304C>T NP_001352880.1:p.Gly768= NC_000001.11:10321802:C:T p.(Gly768=) NC_000001.11:10321802:C:T p.(Gly768=) NC_000001.11:10321802:C:T Identity +NM_001605.3:c.639G>A NP_001596.2:p.Glu213= NC_000016.10:70271812:C:T p.(Glu213=) NC_000016.10:70271812:C:T p.(Glu213=) NC_000016.10:70271812:C:T Identity +NM_001316772.1:c.1000C>A NP_001303701.1:p.Arg334= NC_000007.14:30616025:C:A p.(Arg334=) NC_000007.14:30616025:C:A p.(Arg334=) NC_000007.14:30616025:C:A Identity +NM_014845.6:c.2470C>T NP_055660.1:p.Leu824= NC_000006.12:109796774:C:T p.(Leu824=) NC_000006.12:109796774:C:T p.(Leu824=) NC_000006.12:109796774:C:T Identity +NM_001365951.3:c.1152T>C NP_001352880.1:p.Arg384= NC_000001.11:10278099:T:C p.(Arg384=) NC_000001.11:10278099:T:C p.(Arg384=) NC_000001.11:10278099:T:C Identity +NM_000530.8:c.216G>C NP_000521.2:p.Gly72= NC_000001.11:161307275:C:G p.(Gly72=) NC_000001.11:161307275:C:G p.(Gly72=) NC_000001.11:161307275:C:G Identity +NM_001605.3:c.2358T>C NP_001596.2:p.Ala786= NC_000016.10:70254662:A:G p.(Ala786=) NC_000016.10:70254662:A:G p.(Ala786=) NC_000016.10:70254662:A:G Identity +NM_006158.5:c.597C>T NP_006149.2:p.Ala199= NC_000008.11:24955918:G:A p.(Ala199=) NC_000008.11:24955918:G:A p.(Ala199=) NC_000008.11:24955918:G:A Identity +NM_000530.8:c.498C>A NP_000521.2:p.Leu166= NC_000001.11:161306414:G:T p.(Leu166=) NC_000001.11:161306414:G:T p.(Leu166=) NC_000001.11:161306414:G:T Identity +NM_001127660.2:c.2232G>A NP_001121132.1:p.Glu744= NC_000001.11:12011522:G:A p.(Glu744=) NC_000001.11:12011522:G:A p.(Glu744=) NC_000001.11:12011522:G:A Identity +NM_181882.3:c.1656A>G NP_870998.2:p.Ser552= NC_000019.10:40396695:T:C p.(Ser552=) NC_000019.10:40396695:T:C p.(Ser552=) NC_000019.10:40396695:T:C Identity +NM_001365951.3:c.993G>A NP_001352880.1:p.Leu331= NC_000001.11:10276354:G:A p.(Leu331=) NC_000001.11:10276354:G:A p.(Leu331=) NC_000001.11:10276354:G:A Identity +NM_001365951.3:c.3339G>T NP_001352880.1:p.Leu1113= NC_000001.11:10337449:G:T p.(Leu1113=) NC_000001.11:10337449:G:T p.(Leu1113=) NC_000001.11:10337449:G:T Identity +NM_000399.5:c.561G>A NP_000390.2:p.Ala187= NC_000010.11:62814076:C:T p.(Ala187=) NC_000010.11:62814076:C:T p.(Ala187=) NC_000010.11:62814076:C:T Identity +NM_001365951.3:c.4413T>C NP_001352880.1:p.Tyr1471= NC_000001.11:10365145:T:C p.(Tyr1471=) NC_000001.11:10365145:T:C p.(Tyr1471=) NC_000001.11:10365145:T:C Identity +NM_001316772.1:c.72G>A NP_001303701.1:p.Val24= NC_000007.14:30598806:G:A p.(Val24=) NC_000007.14:30598806:G:A p.(Val24=) NC_000007.14:30598806:G:A Identity +NM_001605.3:c.2169T>C NP_001596.2:p.Cys723= NC_000016.10:70258040:A:G p.(Cys723=) NC_000016.10:70258040:A:G p.(Cys723=) NC_000016.10:70258040:A:G Identity +NM_001605.3:c.1824G>C NP_001596.2:p.Thr608= NC_000016.10:70259147:C:G p.(Thr608=) NC_000016.10:70259147:C:G p.(Thr608=) NC_000016.10:70259147:C:G Identity +NM_001346897.2:c.1740C>G NP_001333826.1:p.Thr580= NC_000007.14:55165431:C:G p.(Thr580=) NC_000007.14:55165431:C:G p.(Thr580=) NC_000007.14:55165431:C:G Identity +NM_001195227.2:c.273C>T NP_001182156.1:p.Leu91= NC_000019.10:49167921:C:T p.(Leu91=) NC_000019.10:49167921:C:T p.(Leu91=) NC_000019.10:49167921:C:T Identity +NM_001411127.1:c.1092C>T NP_001398056.1:p.His364= NC_000019.10:40397544:G:A p.(His364=) NC_000019.10:40397544:G:A p.(His364=) NC_000019.10:40397544:G:A Identity +NM_001406994.1:c.300C>T NP_001393923.1:p.Pro100= NC_000001.11:156135887:C:T p.(Pro100=) NC_000001.11:156135887:C:T p.(Pro100=) NC_000001.11:156135887:C:T Identity +NM_001411127.1:c.4167A>T NP_001398056.1:p.Ala1389= NC_000019.10:40394469:T:A p.(Ala1389=) NC_000019.10:40394469:T:A p.(Ala1389=) NC_000019.10:40394469:T:A Identity +NM_000530.8:c.135G>A NP_000521.2:p.Arg45= NC_000001.11:161307356:C:T p.(Arg45=) NC_000001.11:161307356:C:T p.(Arg45=) NC_000001.11:161307356:C:T Identity +NM_001378355.1:c.2055C>T NP_001365284.1:p.Gly685= NC_000019.10:49836314:C:T p.(Gly685=) NC_000019.10:49836314:C:T p.(Gly685=) NC_000019.10:49836314:C:T Identity +NM_001257374.3:c.1587G>A NP_001244303.1:p.Leu529= NC_000001.11:156138711:G:A p.(Leu529=) NC_000001.11:156138711:G:A p.(Leu529=) NC_000001.11:156138711:G:A Identity +NM_001605.3:c.2205A>T NP_001596.2:p.Gly735= NC_000016.10:70255808:T:A p.(Gly735=) NC_000016.10:70255808:T:A p.(Gly735=) NC_000016.10:70255808:T:A Identity +NM_001127660.2:c.821_826del NP_001121132.1:p.Arg274_Arg275del NC_000001.11:12001402:GCGGCGGC:GC p.(Arg274_Arg275del) NC_000001.11:12001402:GCGGCGGC:GC p.(Arg274_Arg275del) NC_000001.11:12001404:GGCGGC: Identity +NM_001127660.2:c.1158G>A NP_001121132.1:p.Gln386= NC_000001.11:12002100:G:A p.(Gln386=) NC_000001.11:12002100:G:A p.(Gln386=) NC_000001.11:12002100:G:A Identity +NM_014845.6:c.945A>C NP_055660.1:p.Ala315= NC_000006.12:109743177:A:C p.(Ala315=) NC_000006.12:109743177:A:C p.(Ala315=) NC_000006.12:109743177:A:C Identity +NM_001256725.2:c.570G>A NP_001243654.1:p.Thr190= NC_000002.12:85623781:G:A p.(Thr190=) NC_000002.12:85623781:G:A p.(Thr190=) NC_000002.12:85623781:G:A Identity +NM_001040142.2:c.2817G>A NP_001035232.1:p.Leu939= NC_000002.12:165344808:G:A p.(Leu939=) NC_000002.12:165344808:G:A p.(Leu939=) NC_000002.12:165344808:G:A Identity +NM_001024858.4:c.6741C>T NP_001020029.1:p.Ala2247= NC_000014.9:64750015:G:A p.(Ala2247=) NC_000014.9:64750015:G:A p.(Ala2247=) NC_000014.9:64750015:G:A Identity +NM_000037.4:c.1717C>T NP_000028.3:p.Leu573= NC_000008.11:41714238:G:A p.(Leu573=) NC_000008.11:41714238:G:A p.(Leu573=) NC_000008.11:41714238:G:A Identity +NM_032444.4:c.4485G>C NP_115820.2:p.Ala1495= NC_000016.10:3589152:C:G p.(Ala1495=) NC_000016.10:3589152:C:G p.(Ala1495=) NC_000016.10:3589152:C:G Identity +NM_000022.4:c.445C>A NP_000013.2:p.Arg149= NC_000020.11:44625601:G:T p.(Arg149=) NC_000020.11:44625601:G:T p.(Arg149=) NC_000020.11:44625601:G:T Identity +NM_001005360.3:c.1584C>T NP_001005360.1:p.Ile528= NC_000019.10:10812289:C:T p.(Ile528=) NC_000019.10:10812289:C:T p.(Ile528=) NC_000019.10:10812289:C:T Identity +NM_201590.3:c.39C>T NP_963884.2:p.Tyr13= NC_000010.11:18340964:C:T p.(Tyr13=) NC_000010.11:18340964:C:T p.(Tyr13=) NC_000010.11:18340964:C:T Identity +NM_000478.6:c.876_882delinsT NP_000469.3:p.Gly293_Asp294del NC_000001.11:21573677:AGGGGAC:T p.(Gly293_Met295delinsLeu) NC_000001.11:21573676:CAGGGGACA:CAT p.(Gly293_Asp294del) NC_000001.11:21573677:AGGGGAC:T Different +NM_001005360.3:c.33G>A NP_001005360.1:p.Pro11= NC_000019.10:10718274:G:A p.(Pro11=) NC_000019.10:10718274:G:A p.(Pro11=) NC_000019.10:10718274:G:A Identity +NM_032444.4:c.3948_3962dup NP_115820.2:p.Pro1317_Pro1321dup NC_000016.10:3589675:GGTGTCTGGGGCGGTGGTGTCTGGGGC:GGTGTCTGGGGCGGTGGTGTCTGGGGCGGTGGTGTCTGGGGC p.(Pro1317_Pro1321dup) NC_000016.10:3589675:GGTGTCTGGGGCGGTGGTGTCTGGGGC:GGTGTCTGGGGCGGTGGTGTCTGGGGCGGTGGTGTCTGGGGC p.(Pro1317_Pro1321dup) ERR:SPDI Identity +NM_032444.4:c.3906C>T NP_115820.2:p.Asn1302= NC_000016.10:3589731:G:A p.(Asn1302=) NC_000016.10:3589731:G:A p.(Asn1302=) NC_000016.10:3589731:G:A Identity +NM_032444.4:c.3423T>C NP_115820.2:p.Ser1141= NC_000016.10:3590214:A:G p.(Ser1141=) NC_000016.10:3590214:A:G p.(Ser1141=) NC_000016.10:3590214:A:G Identity +NM_020638.3:c.423G>T NP_065689.1:p.Ala141= NC_000012.12:4370675:C:A p.(Ala141=) NC_000012.12:4370675:C:A p.(Ala141=) NC_000012.12:4370675:C:A Identity +NM_032444.4:c.4410G>A NP_115820.2:p.Pro1470= NC_000016.10:3589227:C:T p.(Pro1470=) NC_000016.10:3589227:C:T p.(Pro1470=) NC_000016.10:3589227:C:T Identity +NM_001113378.2:c.3162C>T NP_001106849.1:p.His1054= NC_000015.10:89305217:C:T p.(His1054=) NC_000015.10:89305217:C:T p.(His1054=) NC_000015.10:89305217:C:T Identity +NM_001005360.3:c.174C>T NP_001005360.1:p.Pro58= NC_000019.10:10759749:C:T p.(Pro58=) NC_000019.10:10759749:C:T p.(Pro58=) NC_000019.10:10759749:C:T Identity +NM_001113378.2:c.1158T>G NP_001106849.1:p.Gly386= NC_000015.10:89276755:T:G p.(Gly386=) NC_000015.10:89276755:T:G p.(Gly386=) NC_000015.10:89276755:T:G Identity +NM_001113378.2:c.2121G>A NP_001106849.1:p.Glu707= NC_000015.10:89292815:G:A p.(Glu707=) NC_000015.10:89292815:G:A p.(Glu707=) NC_000015.10:89292815:G:A Identity +NM_001005360.3:c.2337C>A NP_001005360.1:p.Gly779= NC_000019.10:10830171:C:A p.(Gly779=) NC_000019.10:10830171:C:A p.(Gly779=) NC_000019.10:10830171:C:A Identity +NM_001113378.2:c.1962A>G NP_001106849.1:p.Gln654= NC_000015.10:89291683:A:G p.(Gln654=) NC_000015.10:89291683:A:G p.(Gln654=) NC_000015.10:89291683:A:G Identity +NM_000136.3:c.807G>A NP_000127.2:p.Leu269= NC_000009.12:95135381:C:T p.(Leu269=) NC_000009.12:95135381:C:T p.(Leu269=) NC_000009.12:95135381:C:T Identity +NM_001005360.3:c.429G>A NP_001005360.1:p.Val143= NC_000019.10:10775745:G:A p.(Val143=) NC_000019.10:10775745:G:A p.(Val143=) NC_000019.10:10775745:G:A Identity +NM_032444.4:c.1596G>A NP_115820.2:p.Glu532= NC_000016.10:3597465:C:T p.(Glu532=) NC_000016.10:3597465:C:T p.(Glu532=) NC_000016.10:3597465:C:T Identity +NM_032444.4:c.66C>T NP_115820.2:p.Ala22= NC_000016.10:3608898:G:A p.(Ala22=) NC_000016.10:3608898:G:A p.(Ala22=) NC_000016.10:3608898:G:A Identity +NM_001271803.2:c.540C>T NP_001258732.1:p.Ser180= NC_000005.10:138445349:C:T p.(Ser180=) NC_000005.10:138445349:C:T p.(Ser180=) NC_000005.10:138445349:C:T Identity +NM_001113378.2:c.2310C>T NP_001106849.1:p.Asp770= NC_000015.10:89293850:C:T p.(Asp770=) NC_000015.10:89293850:C:T p.(Asp770=) NC_000015.10:89293850:C:T Identity +NM_032444.4:c.5139C>T NP_115820.2:p.Ser1713= NC_000016.10:3583110:G:A p.(Ser1713=) NC_000016.10:3583110:G:A p.(Ser1713=) NC_000016.10:3583110:G:A Identity +NM_032444.4:c.4281C>T NP_115820.2:p.Cys1427= NC_000016.10:3589356:G:A p.(Cys1427=) NC_000016.10:3589356:G:A p.(Cys1427=) NC_000016.10:3589356:G:A Identity +NM_032444.4:c.2412A>G NP_115820.2:p.Glu804= NC_000016.10:3591225:T:C p.(Glu804=) NC_000016.10:3591225:T:C p.(Glu804=) NC_000016.10:3591225:T:C Identity +NM_000495.5:c.2244G>A NP_000486.1:p.Lys748= NC_000023.11:108603060:G:A p.(Lys748=) NC_000023.11:108603060:G:A p.(Lys748=) NC_000023.11:108603060:G:A Identity +NM_001018113.3:c.726T>A NP_001018123.1:p.Ile242= NC_000023.11:14864784:A:T p.(Ile242=) NC_000023.11:14864784:A:T p.(Ile242=) NC_000023.11:14864784:A:T Identity +NM_032444.4:c.4656G>A NP_115820.2:p.Lys1552= NC_000016.10:3584851:C:T p.(Lys1552=) NC_000016.10:3584851:C:T p.(Lys1552=) NC_000016.10:3584851:C:T Identity +NM_032444.4:c.5112C>T NP_115820.2:p.Ala1704= NC_000016.10:3583137:G:A p.(Ala1704=) NC_000016.10:3583137:G:A p.(Ala1704=) NC_000016.10:3583137:G:A Identity +NM_032444.4:c.4725G>A NP_115820.2:p.Lys1575= NC_000016.10:3584782:C:T p.(Lys1575=) NC_000016.10:3584782:C:T p.(Lys1575=) NC_000016.10:3584782:C:T Identity +NM_001005360.3:c.2496A>T NP_001005360.1:p.Pro832= NC_000019.10:10830330:A:T p.(Pro832=) NC_000019.10:10830330:A:T p.(Pro832=) NC_000019.10:10830330:A:T Identity +NM_001018113.3:c.129A>G NP_001018123.1:p.Leu43= NC_000023.11:14865381:T:C p.(Leu43=) NC_000023.11:14865381:T:C p.(Leu43=) NC_000023.11:14865381:T:C Identity +NM_032444.4:c.3966C>G NP_115820.2:p.Ser1322= NC_000016.10:3589671:G:C p.(Ser1322=) NC_000016.10:3589671:G:C p.(Ser1322=) NC_000016.10:3589671:G:C Identity +NM_000393.5:c.1791C>A NP_000384.2:p.Gly597= NC_000002.12:189063249:G:T p.(Gly597=) NC_000002.12:189063249:G:T p.(Gly597=) NC_000002.12:189063249:G:T Identity +NM_000457.6:c.513G>A NP_000448.3:p.Gly171= NC_000020.11:44414526:G:A p.(Gly171=) NC_000020.11:44414526:G:A p.(Gly171=) NC_000020.11:44414526:G:A Identity +NM_001354346.2:c.1749G>A NP_001341275.1:p.Leu583= NC_000012.12:7080942:C:T p.(Leu583=) NC_000012.12:7080942:C:T p.(Leu583=) NC_000012.12:7080942:C:T Identity +NM_000068.4:c.648G>C NP_000059.3:p.Leu216= NC_000019.10:13365452:C:G p.(Leu216=) NC_000019.10:13365452:C:G p.(Leu216=) NC_000019.10:13365452:C:G Identity +NM_000202.8:c.1652G>C NP_000193.1:p.Ter551Ser NC_000023.11:149482746:C:G p.(Ter551SerextTer17) NC_000023.11:149482746:C:G p.(Ter551SerextTer17) NC_000023.11:149482746:C:G Analogous +NM_014208.3:c.3135C>T NP_055023.2:p.Ser1045= NC_000004.12:87615796:C:T p.(Ser1045=) NC_000004.12:87615796:C:T p.(Ser1045=) NC_000004.12:87615796:C:T Identity +NM_001354346.2:c.279T>C NP_001341275.1:p.Ser93= NC_000012.12:7090242:A:G p.(Ser93=) NC_000012.12:7090242:A:G p.(Ser93=) NC_000012.12:7090242:A:G Identity +NM_000193.4:c.807G>A NP_000184.1:p.Ala269= NC_000007.14:155803481:C:T p.(Ala269=) NC_000007.14:155803481:C:T p.(Ala269=) NC_000007.14:155803481:C:T Identity +NM_001349608.2:c.3863_3883dup NP_001336537.1:p.Lys1294_Asp1295insValGlyLysTrpAsnSerLys NC_000001.11:7738251:GTAGGAAAGTGGAATTCCAAAG:GTAGGAAAGTGGAATTCCAAAGTAGGAAAGTGGAATTCCAAAG p.(Val1288_Lys1294dup) NC_000001.11:7738251:GTAGGAAAGTGGAATTCCAAAG:GTAGGAAAGTGGAATTCCAAAGTAGGAAAGTGGAATTCCAAAG p.(Val1288_Lys1294dup) ERR:SPDI Analogous +NM_000251.3:c.813T>G NP_000242.1:p.Ser271= NC_000002.12:47414288:T:G p.(Ser271=) NC_000002.12:47414288:T:G p.(Ser271=) NC_000002.12:47414288:T:G Identity +NM_000251.3:c.1794G>A NP_000242.1:p.Val598= NC_000002.12:47475058:G:A p.(Val598=) NC_000002.12:47475058:G:A p.(Val598=) NC_000002.12:47475058:G:A Identity +NM_000245.4:c.618C>T NP_000236.2:p.Phe206= NC_000007.14:116699701:C:T p.(Phe206=) NC_000007.14:116699701:C:T p.(Phe206=) NC_000007.14:116699701:C:T Identity +NM_001290307.3:c.90G>A NP_001277236.1:p.Glu30= NC_000005.10:138782013:G:A p.(Glu30=) NC_000005.10:138782013:G:A p.(Glu30=) NC_000005.10:138782013:G:A Identity +NM_000245.4:c.1443G>A NP_000236.2:p.Leu481= NC_000007.14:116739999:G:A p.(Leu481=) NC_000007.14:116739999:G:A p.(Leu481=) NC_000007.14:116739999:G:A Identity +NM_000251.3:c.2001T>C NP_000242.1:p.Ile667= NC_000002.12:47475265:T:C p.(Ile667=) NC_000002.12:47475265:T:C p.(Ile667=) NC_000002.12:47475265:T:C Identity +NM_000251.3:c.1644T>G NP_000242.1:p.Gly548= NC_000002.12:47466790:T:G p.(Gly548=) NC_000002.12:47466790:T:G p.(Gly548=) NC_000002.12:47466790:T:G Identity +NM_000249.4:c.1689A>T NP_000240.1:p.Ile563= NC_000003.12:37042288:A:T p.(Ile563=) NC_000003.12:37042288:A:T p.(Ile563=) NC_000003.12:37042288:A:T Identity +NM_000249.4:c.1230C>A NP_000240.1:p.Ala410= NC_000003.12:37025827:C:A p.(Ala410=) NC_000003.12:37025827:C:A p.(Ala410=) NC_000003.12:37025827:C:A Identity +NM_006361.6:c.759C>G NP_006352.2:p.Thr253= NC_000017.11:48726885:G:C p.(Thr253=) NC_000017.11:48726885:G:C p.(Thr253=) NC_000017.11:48726885:G:C Identity +NM_006361.6:c.741C>T NP_006352.2:p.Arg247= NC_000017.11:48726903:G:A p.(Arg247=) NC_000017.11:48726903:G:A p.(Arg247=) NC_000017.11:48726903:G:A Identity +NM_006361.6:c.747C>A NP_006352.2:p.Ile249= NC_000017.11:48726897:G:T p.(Ile249=) NC_000017.11:48726897:G:T p.(Ile249=) NC_000017.11:48726897:G:T Identity +NM_000245.4:c.2499C>G NP_000236.2:p.Leu833= NC_000007.14:116763183:C:G p.(Leu833=) NC_000007.14:116763183:C:G p.(Leu833=) NC_000007.14:116763183:C:G Identity +NM_000249.4:c.1843C>T NP_000240.1:p.Leu615= NC_000003.12:37047629:C:T p.(Leu615=) NC_000003.12:37047629:C:T p.(Leu615=) NC_000003.12:37047629:C:T Identity +NM_001346897.2:c.2025C>A NP_001333826.1:p.Ser675= NC_000007.14:55174018:C:A p.(Ser675=) NC_000007.14:55174018:C:A p.(Ser675=) NC_000007.14:55174018:C:A Identity +NM_001290307.3:c.1920C>T NP_001277236.1:p.Asp640= NC_000005.10:138929265:C:T p.(Asp640=) NC_000005.10:138929265:C:T p.(Asp640=) NC_000005.10:138929265:C:T Identity +NM_000251.3:c.1110A>G NP_000242.1:p.Ala370= NC_000002.12:47429774:A:G p.(Ala370=) NC_000002.12:47429774:A:G p.(Ala370=) NC_000002.12:47429774:A:G Identity +NM_001346897.2:c.2385C>A NP_001333826.1:p.Ala795= NC_000007.14:55191768:C:A p.(Ala795=) NC_000007.14:55191768:C:A p.(Ala795=) NC_000007.14:55191768:C:A Identity +NM_001323995.1:c.684C>A NP_001310924.1:p.Leu228= NC_000005.10:138925301:C:A p.(Leu228=) NC_000005.10:138925301:C:A p.(Leu228=) NC_000005.10:138925301:C:A Identity +NM_000249.4:c.1675C>T NP_000240.1:p.Leu559= NC_000003.12:37042274:C:T p.(Leu559=) NC_000003.12:37042274:C:T p.(Leu559=) NC_000003.12:37042274:C:T Identity +NM_001160147.2:c.1895del NP_001153619.1:p.Pro631_Leu632insTer NC_000014.9:53058594:AA:A p.(Leu632Ter) NC_000014.9:53058594:AA:A p.(Leu632Ter) NC_000014.9:53058594:A: Analogous +NM_017433.5:c.1080G>A NP_059129.3:p.Lys360= NC_000010.11:26068793:G:A p.(Lys360=) NC_000010.11:26068793:G:A p.(Lys360=) NC_000010.11:26068793:G:A Identity +NM_001287489.2:c.3628C>A NP_001274418.1:p.Arg1210= NC_000002.12:26473236:G:T p.(Arg1210=) NC_000002.12:26473236:G:T p.(Arg1210=) NC_000002.12:26473236:G:T Identity +NM_206933.4:c.9636C>T NP_996816.3:p.Ile3212= NC_000001.11:215813838:G:A p.(Ile3212=) NC_000001.11:215813838:G:A p.(Ile3212=) NC_000001.11:215813838:G:A Identity +NM_001118887.2:c.408G>C NP_001112359.1:p.Ala136= NC_000008.11:6532367:C:G p.(Ala136=) NC_000008.11:6532367:C:G p.(Ala136=) NC_000008.11:6532367:C:G Identity +NM_001004426.3:c.729_740del NP_001004426.1:p.Ala244_Asn247del NC_000022.11:38140038:TTGCACCGAGCATTGCAC:TTGCAC p.(Ala244_Asn247del) NC_000022.11:38140038:TTGCACCGAGCATTGCAC:TTGCAC p.(Ala244_Asn247del) NC_000022.11:38140038:TTGCACCGAGCA: Identity +NM_001039141.3:c.5349A>T NP_001034230.1:p.Gly1783= NC_000022.11:37751797:A:T p.(Gly1783=) NC_000022.11:37751797:A:T p.(Gly1783=) NC_000022.11:37751797:A:T Identity +NM_001171933.1:c.2304A>G NP_001165404.1:p.Glu768= NC_000010.11:71810515:A:G p.(Glu768=) NC_000010.11:71810515:A:G p.(Glu768=) NC_000010.11:71810515:A:G Identity +NM_001287489.2:c.2034_2042dup NP_001274418.1:p.676_678AGD[3] NC_000002.12:26479523:TCCCCGGCATC:TCCCCGGCATCCCCGGCATC p.(Ala679_Asp681dup) NC_000002.12:26479523:TCCCCGGCATC:TCCCCGGCATCCCCGGCATC p.(Ala679_Asp681dup) ERR:SPDI Analogous +NM_032119.4:c.5460G>A NP_115495.3:p.Arg1820= NC_000005.10:90679564:G:A p.(Arg1820=) NC_000005.10:90679564:G:A p.(Arg1820=) NC_000005.10:90679564:G:A Identity +NM_000195.5:c.1239G>T NP_000186.2:p.Pro413= NC_000010.11:98425636:C:A p.(Pro413=) NC_000010.11:98425636:C:A p.(Pro413=) NC_000010.11:98425636:C:A Identity +NM_016239.4:c.1149C>T NP_057323.3:p.Gly383= NC_000017.11:18119948:C:T p.(Gly383=) NC_000017.11:18119948:C:T p.(Gly383=) NC_000017.11:18119948:C:T Identity +NM_007123.6:c.3942A>G NP_009054.6:p.Glu1314= NC_000001.11:216198453:T:C p.(Glu1314=) NC_000001.11:216198453:T:C p.(Glu1314=) NC_000001.11:216198453:T:C Identity +NM_000135.4:c.1501_1502insTGGTTCCCA NP_000126.2:p.Gly501delinsValValProSer NC_000016.10:89783071::TGGGAACCA p.(Gly501delinsValValProSer) NC_000016.10:89783070:C:TGGGAACCA p.(Gly501delinsValValProSer) NC_000016.10:89783071:CC:TGGGAACCA Identity +NM_001330347.2:c.405A>T NP_001317276.1:p.Ala135= NC_000011.10:94478873:T:A p.(Ala135=) NC_000011.10:94478873:T:A p.(Ala135=) NC_000011.10:94478873:T:A Identity +NM_001277115.2:c.8829T>C NP_001264044.1:p.Asp2943= NC_000007.14:21750252:T:C p.(Asp2943=) NC_000007.14:21750252:T:C p.(Asp2943=) NC_000007.14:21750252:T:C Identity +NM_000071.3:c.1563C>T NP_000062.1:p.Thr521= NC_000021.9:43053972:G:A p.(Thr521=) NC_000021.9:43053972:G:A p.(Thr521=) NC_000021.9:43053972:G:A Identity +NM_015102.5:c.1047C>T NP_055917.1:p.Val349= NC_000001.11:5947175:G:A p.(Val349=) NC_000001.11:5947175:G:A p.(Val349=) NC_000001.11:5947175:G:A Identity +NM_001166102.2:c.990C>T NP_001159574.1:p.Phe330= NC_000011.10:67611505:C:T p.(Phe330=) NC_000011.10:67611505:C:T p.(Phe330=) NC_000011.10:67611505:C:T Identity +NM_001127889.5:c.114C>A NP_001121361.1:p.Gly38= NC_000015.10:64980974:G:T p.(Gly38=) NC_000015.10:64980974:G:T p.(Gly38=) NC_000015.10:64980974:G:T Identity +NM_001134453.3:c.2223G>A NP_001127925.1:p.Gly741= NC_000018.10:31411258:G:A p.(Gly741=) NC_000018.10:31411258:G:A p.(Gly741=) NC_000018.10:31411258:G:A Identity +NM_000285.4:c.1311C>T NP_000276.2:p.Arg437= NC_000019.10:33387922:G:A p.(Arg437=) NC_000019.10:33387922:G:A p.(Arg437=) NC_000019.10:33387922:G:A Identity +NM_000211.5:c.1026G>C NP_000202.3:p.Val342= NC_000021.9:44895027:C:G p.(Val342=) NC_000021.9:44895027:C:G p.(Val342=) NC_000021.9:44895027:C:G Identity +NM_000426.4:c.3750G>T NP_000417.3:p.Gly1250= NC_000006.12:129315775:G:T p.(Gly1250=) NC_000006.12:129315775:G:T p.(Gly1250=) NC_000006.12:129315775:G:T Identity +NM_000129.4:c.327C>T NP_000120.2:p.Tyr109= NC_000006.12:6266801:G:A p.(Tyr109=) NC_000006.12:6266801:G:A p.(Tyr109=) NC_000006.12:6266801:G:A Identity +NM_017890.5:c.9342T>C NP_060360.3:p.Asn3114= NC_000008.11:99823914:T:C p.(Asn3114=) NC_000008.11:99823914:T:C p.(Asn3114=) NC_000008.11:99823914:T:C Identity +NM_001160372.4:c.2475G>A NP_001153844.1:p.Arg825= NC_000008.11:140221539:C:T p.(Arg825=) NC_000008.11:140221539:C:T p.(Arg825=) NC_000008.11:140221539:C:T Identity +NM_001375808.2:c.2427T>C NP_001362737.1:p.Phe809= NC_000018.10:2921547:A:G p.(Phe809=) NC_000018.10:2921547:A:G p.(Phe809=) NC_000018.10:2921547:A:G Identity +NM_001172818.1:c.318C>T NP_001166289.1:p.Ile106= NC_000001.11:63629441:C:T p.(Ile106=) NC_000001.11:63629441:C:T p.(Ile106=) NC_000001.11:63629441:C:T Identity +NM_016373.4:c.9G>C NP_057457.1:p.Ala3= NC_000016.10:78099786:G:C p.(Ala3=) NC_000016.10:78099786:G:C p.(Ala3=) NC_000016.10:78099786:G:C Identity +NM_001291997.2:c.279G>C NP_001278926.1:p.Val93= NC_000016.10:78424881:G:C p.(Val93=) NC_000016.10:78424881:G:C p.(Val93=) NC_000016.10:78424881:G:C Identity +NM_000411.8:c.492C>T NP_000402.3:p.Ile164= NC_000021.9:36936952:G:A p.(Ile164=) NC_000021.9:36936952:G:A p.(Ile164=) NC_000021.9:36936952:G:A Identity +NM_000086.2:c.1213C>A NP_000077.1:p.Arg405= NC_000016.10:28477619:G:T p.(Arg405=) NC_000016.10:28477619:G:T p.(Arg405=) NC_000016.10:28477619:G:T Identity +NM_030777.4:c.1446C>T NP_110404.1:p.Tyr482= NC_000020.11:46729386:C:T p.(Tyr482=) NC_000020.11:46729386:C:T p.(Tyr482=) NC_000020.11:46729386:C:T Identity +NM_002485.5:c.117G>A NP_002476.2:p.Gln39= NC_000008.11:89982775:C:T p.(Gln39=) NC_000008.11:89982775:C:T p.(Gln39=) NC_000008.11:89982775:C:T Identity +NM_000071.3:c.1338G>A NP_000062.1:p.Ala446= NC_000021.9:43058853:C:T p.(Ala446=) NC_000021.9:43058853:C:T p.(Ala446=) NC_000021.9:43058853:C:T Identity +NM_000411.8:c.128_144delinsTTGCTTGAGATTAAGCCTGAGATTAAGG NP_000402.3:p.Pro43_Ser48delinsLeuAlaTer NC_000021.9:36937300:AGAAGGTTCAGGCTTCG:CCTTAATCTCAGGCTTAATCTCAAGCAA p.(Lys44CysfsTer218) NC_000021.9:36937299:GAGAAGGTTCAGGCTTCG:GCCTTAATCTCAGGCTTAATCTCAAGCAA p.(Pro43LeufsTer3) NC_000021.9:36937300:AGAAGGTTCAGGCTTCG:CCTTAATCTCAGGCTTAATCTCAAGCAA Different +NM_018136.5:c.8475T>C NP_060606.3:p.Phe2825= NC_000001.11:197100775:A:G p.(Phe2825=) NC_000001.11:197100775:A:G p.(Phe2825=) NC_000001.11:197100775:A:G Identity +NM_001080463.2:c.954A>G NP_001073932.1:p.Lys318= NC_000011.10:103117817:A:G p.(Lys318=) NC_000011.10:103117817:A:G p.(Lys318=) NC_000011.10:103117817:A:G Identity +NM_001242581.2:c.1089C>T NP_001229510.1:p.Pro363= NC_000020.11:19974966:C:T p.(Pro363=) NC_000020.11:19974966:C:T p.(Pro363=) NC_000020.11:19974966:C:T Identity +NM_020461.4:c.3291G>T NP_065194.3:p.Val1097= NC_000022.11:50221067:C:A p.(Val1097=) NC_000022.11:50221067:C:A p.(Val1097=) NC_000022.11:50221067:C:A Identity +NM_001160147.2:c.325GGC[9] NP_001153619.1:p.Gly112_Ser113insGlyGlyGlyGlyGly NC_000014.9:53152762:GCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCCGCCGCCGCCGC p.(Gly112_Ser113insGlyGlyGlyGlyGly) NC_000014.9:53152773:C:GCCGCCGCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_001193333.3:c.969C>A NP_001180262.1:p.Pro323= NC_000016.10:30188048:C:A p.(Pro323=) NC_000016.10:30188048:C:A p.(Pro323=) NC_000016.10:30188048:C:A Identity +NM_001350914.2:c.1662C>T NP_001337843.1:p.Ala554= NC_000007.14:158918747:C:T p.(Ala554=) NC_000007.14:158918747:C:T p.(Ala554=) NC_000007.14:158918747:C:T Identity +NM_000492.4:c.1059A>G NP_000483.3:p.Gln353= NC_000007.14:117540288:A:G p.(Gln353=) NC_000007.14:117540288:A:G p.(Gln353=) NC_000007.14:117540288:A:G Identity +NM_000492.4:c.2112A>G NP_000483.3:p.Pro704= NC_000007.14:117592278:A:G p.(Pro704=) NC_000007.14:117592278:A:G p.(Pro704=) NC_000007.14:117592278:A:G Identity +NM_000492.4:c.3108C>G NP_000483.3:p.Thr1036= NC_000007.14:117610637:C:G p.(Thr1036=) NC_000007.14:117610637:C:G p.(Thr1036=) NC_000007.14:117610637:C:G Identity +NM_001278055.2:c.13297_13298del NP_001264984.1:p.Ter4433LysextTer? NC_000013.11:23330136:CACAC:CAC p.(Ter4433LysfsTer11) NC_000013.11:23330136:CACAC:CAC p.(Ter4433LysextTer10) NC_000013.11:23330136:CA: Different +NM_000156.6:c.159_161dup NP_000147.1:p.Ala57dup NC_000019.10:1401315:GCC:GCCGCC p.(Ala57dup) NC_000019.10:1401315:GCC:GCCGCC p.(Ala57dup) ERR:SPDI Identity +NM_001287489.2:c.5505G>A NP_001274418.1:p.Ala1835= NC_000002.12:26461723:C:T p.(Ala1835=) NC_000002.12:26461723:C:T p.(Ala1835=) NC_000002.12:26461723:C:T Identity +NM_001329903.2:c.279G>T NP_001316832.1:p.Ser93= NC_000017.11:1770045:G:T p.(Ser93=) NC_000017.11:1770045:G:T p.(Ser93=) NC_000017.11:1770045:G:T Identity +NM_001242581.2:c.123G>A NP_001229510.1:p.Ala41= NC_000020.11:19889576:G:A p.(Ala41=) NC_000020.11:19889576:G:A p.(Ala41=) NC_000020.11:19889576:G:A Identity +NM_001037633.2:c.1164G>A NP_001032722.1:p.Leu388= NC_000005.10:138947338:C:T p.(Leu388=) NC_000005.10:138947338:C:T p.(Leu388=) NC_000005.10:138947338:C:T Identity +NM_001080463.2:c.12693A>T NP_001073932.1:p.Gly4231= NC_000011.10:103468611:A:T p.(Gly4231=) NC_000011.10:103468611:A:T p.(Gly4231=) NC_000011.10:103468611:A:T Identity +NM_153676.4:c.1824G>C NP_710142.1:p.Pro608= NC_000011.10:17509544:C:G p.(Pro608=) NC_000011.10:17509544:C:G p.(Pro608=) NC_000011.10:17509544:C:G Identity +NM_001080476.3:c.597T>A NP_001073945.1:p.Pro199= NC_000004.12:42963103:T:A p.(Pro199=) NC_000004.12:42963103:T:A p.(Pro199=) NC_000004.12:42963103:T:A Identity +NM_001172818.1:c.1569C>T NP_001166289.1:p.Ser523= NC_000001.11:63654381:C:T p.(Ser523=) NC_000001.11:63654381:C:T p.(Ser523=) NC_000001.11:63654381:C:T Identity +NM_001384732.1:c.8292G>A NP_001371661.1:p.Gln2764= NC_000005.10:37153820:C:T p.(Gln2764=) NC_000005.10:37153820:C:T p.(Gln2764=) NC_000005.10:37153820:C:T Identity +NM_000824.5:c.798_800delinsGATGATGGGGGT NP_000815.1:p.Gly267delinsMetMetGlyVal NC_000004.12:157143852:CGG:GATGATGGGGGT p.(Val266_Gly267insAspAspGly) NC_000004.12:157143852:CGGC:CGATGATGGGGGT p.(Gly267delinsMetMetGlyVal) NC_000004.12:157143852:CGG:GATGATGGGGGT Different +NM_001243571.2:c.1554G>A NP_001230500.1:p.Gln518= NC_000011.10:95836147:C:T p.(Gln518=) NC_000011.10:95836147:C:T p.(Gln518=) NC_000011.10:95836147:C:T Identity +NM_024577.4:c.3723G>A NP_078853.2:p.Ala1241= NC_000005.10:149004854:C:T p.(Ala1241=) NC_000005.10:149004854:C:T p.(Ala1241=) NC_000005.10:149004854:C:T Identity +NM_001386339.1:c.4797T>G NP_001373268.1:p.Ala1599= NC_000011.10:9789339:A:C p.(Ala1599=) NC_000011.10:9789339:A:C p.(Ala1599=) NC_000011.10:9789339:A:C Identity +NM_001386339.1:c.5112A>G NP_001373268.1:p.Lys1704= NC_000011.10:9787654:T:C p.(Lys1704=) NC_000011.10:9787654:T:C p.(Lys1704=) NC_000011.10:9787654:T:C Identity +NM_001081.4:c.10431_10447del NP_001072.2:p.Pro3477_Val3478insTer NC_000010.11:16831332:TATTTTGAGAGAAGACA: p.(Val3478Ter) NC_000010.11:16831332:TATTTTGAGAGAAGACA: p.(Val3478Ter) NC_000010.11:16831332:TATTTTGAGAGAAGACA: Analogous +NM_000492.4:c.2262G>C NP_000483.3:p.Val754= NC_000007.14:117592428:G:C p.(Val754=) NC_000007.14:117592428:G:C p.(Val754=) NC_000007.14:117592428:G:C Identity +NM_001367561.1:c.4260G>T NP_001354490.1:p.Thr1420= NC_000001.11:62513465:C:A p.(Thr1420=) NC_000001.11:62513465:C:A p.(Thr1420=) NC_000001.11:62513465:C:A Identity +LRG_1221t1:c.2338_2340dup LRG_1221p1:p.Ser780dup NC_000018.10:58747702:GCAGC:GCAGCAGC ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found ERR:AlignmentMapper(tx_ac=LRG_1221t1, alt_ac=LRG_1221t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1221t1, alt_ac=LRG_1221t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found +NM_001284509.2:c.1432_1440del NP_001271438.1:p.Thr478_Ser480del NC_000017.11:6687612:ACTCAGGGTAC:AC p.(Thr478_Ser480del) NC_000017.11:6687612:ACTCAGGGTAC:AC p.(Thr478_Ser480del) NC_000017.11:6687612:ACTCAGGGT: Identity +NM_001370085.1:c.1263G>T NP_001357014.1:p.Leu421= NC_000020.11:761172:C:A p.(Leu421=) NC_000020.11:761172:C:A p.(Leu421=) NC_000020.11:761172:C:A Identity +NM_001287489.2:c.2580C>A NP_001274418.1:p.Val860= NC_000002.12:26476986:G:T p.(Val860=) NC_000002.12:26476986:G:T p.(Val860=) NC_000002.12:26476986:G:T Identity +NM_030943.4:c.57G>T NP_112205.2:p.Ala19= NC_000014.9:102923723:G:T p.(Ala19=) NC_000014.9:102923723:G:T p.(Ala19=) NC_000014.9:102923723:G:T Identity +NM_024753.5:c.2181C>T NP_079029.3:p.Leu727= NC_000002.12:165913603:G:A p.(Leu727=) NC_000002.12:165913603:G:A p.(Leu727=) NC_000002.12:165913603:G:A Identity +NM_000156.6:c.54C>T NP_000147.1:p.Pro18= NC_000019.10:1401422:G:A p.(Pro18=) NC_000019.10:1401422:G:A p.(Pro18=) NC_000019.10:1401422:G:A Identity +NM_001178007.2:c.237C>T NP_001171478.1:p.Asn79= NC_000004.12:122742128:C:T p.(Asn79=) NC_000004.12:122742128:C:T p.(Asn79=) NC_000004.12:122742128:C:T Identity +NM_000135.4:c.3246C>T NP_000126.2:p.Leu1082= NC_000016.10:89748760:G:A p.(Leu1082=) NC_000016.10:89748760:G:A p.(Leu1082=) NC_000016.10:89748760:G:A Identity +NM_001018037.2:c.3483C>T NP_001018047.1:p.Leu1161= NC_000009.12:77295633:C:T p.(Leu1161=) NC_000009.12:77295633:C:T p.(Leu1161=) NC_000009.12:77295633:C:T Identity +NM_022098.4:c.597G>A NP_071381.1:p.Thr199= NC_000022.11:40886319:G:A p.(Thr199=) NC_000022.11:40886319:G:A p.(Thr199=) NC_000022.11:40886319:G:A Identity +NM_000071.3:c.747C>T NP_000062.1:p.Asp249= NC_000021.9:43063980:G:A p.(Asp249=) NC_000021.9:43063980:G:A p.(Asp249=) NC_000021.9:43063980:G:A Identity +NM_015346.4:c.1089G>A NP_056161.2:p.Arg363= NC_000014.9:67805546:C:T p.(Arg363=) NC_000014.9:67805546:C:T p.(Arg363=) NC_000014.9:67805546:C:T Identity +NM_000135.4:c.1491C>T NP_000126.2:p.Pro497= NC_000016.10:89783081:G:A p.(Pro497=) NC_000016.10:89783081:G:A p.(Pro497=) NC_000016.10:89783081:G:A Identity +NM_001142800.2:c.5673T>C NP_001136272.1:p.Asp1891= NC_000006.12:64439323:A:G p.(Asp1891=) NC_000006.12:64439323:A:G p.(Asp1891=) NC_000006.12:64439323:A:G Identity +NM_001371986.1:c.8880C>T NP_001358915.1:p.Leu2960= NC_000002.12:209977019:C:T p.(Leu2960=) NC_000002.12:209977019:C:T p.(Leu2960=) NC_000002.12:209977019:C:T Identity +NM_001178074.2:c.2031A>G NP_001171545.1:p.Lys677= NC_000012.12:66392758:T:C p.(Lys677=) NC_000012.12:66392758:T:C p.(Lys677=) NC_000012.12:66392758:T:C Identity +NM_000085.5:c.615G>T NP_000076.2:p.Ala205= NC_000001.11:16048541:G:T p.(Ala205=) NC_000001.11:16048541:G:T p.(Ala205=) NC_000001.11:16048541:G:T Identity +NM_013382.7:c.1875G>T NP_037514.2:p.Leu625= NC_000014.9:77279838:C:A p.(Leu625=) NC_000014.9:77279838:C:A p.(Leu625=) NC_000014.9:77279838:C:A Identity +NM_006420.3:c.3828G>A NP_006411.2:p.Glu1276= NC_000020.11:49011993:G:A p.(Glu1276=) NC_000020.11:49011993:G:A p.(Glu1276=) NC_000020.11:49011993:G:A Identity +NM_022370.4:c.2472A>C NP_071765.2:p.Ala824= NC_000011.10:124876003:A:C p.(Ala824=) NC_000011.10:124876003:A:C p.(Ala824=) NC_000011.10:124876003:A:C Identity +NM_001193333.3:c.87C>T NP_001180262.1:p.Arg29= NC_000016.10:30185295:C:T p.(Arg29=) NC_000016.10:30185295:C:T p.(Arg29=) NC_000016.10:30185295:C:T Identity +NM_022166.4:c.615A>G NP_071449.1:p.Gly205= NC_000016.10:17259285:T:C p.(Gly205=) NC_000016.10:17259285:T:C p.(Gly205=) NC_000016.10:17259285:T:C Identity +NM_133459.4:c.738A>G NP_597716.1:p.Pro246= NC_000018.10:59448019:T:C p.(Pro246=) NC_000018.10:59448019:T:C p.(Pro246=) NC_000018.10:59448019:T:C Identity +NM_001291860.2:c.6633G>A NP_001278789.1:p.Pro2211= NC_000001.11:21852793:C:T p.(Pro2211=) NC_000001.11:21852793:C:T p.(Pro2211=) NC_000001.11:21852793:C:T Identity +NM_000843.4:c.1944G>A NP_000834.2:p.Ala648= NC_000005.10:178986309:C:T p.(Ala648=) NC_000005.10:178986309:C:T p.(Ala648=) NC_000005.10:178986309:C:T Identity +NM_006657.3:c.966C>A NP_006648.1:p.Ile322= NC_000021.9:46146267:G:T p.(Ile322=) NC_000021.9:46146267:G:T p.(Ile322=) NC_000021.9:46146267:G:T Identity +NM_006420.3:c.2136G>C NP_006411.2:p.Val712= NC_000020.11:48985472:G:C p.(Val712=) NC_000020.11:48985472:G:C p.(Val712=) NC_000020.11:48985472:G:C Identity +NM_000274.4:c.1125A>G NP_000265.1:p.Gly375= NC_000010.11:124400873:T:C p.(Gly375=) NC_000010.11:124400873:T:C p.(Gly375=) NC_000010.11:124400873:T:C Identity +NM_018013.4:c.1797C>T NP_060483.3:p.Pro599= NC_000006.12:107634640:C:T p.(Pro599=) NC_000006.12:107634640:C:T p.(Pro599=) NC_000006.12:107634640:C:T Identity +NM_000400.4:c.1053G>A NP_000391.1:p.Gln351= NC_000019.10:45363807:C:T p.(Gln351=) NC_000019.10:45363807:C:T p.(Gln351=) NC_000019.10:45363807:C:T Identity +NM_001206846.2:c.3477C>T NP_001193775.1:p.Asp1159= NC_000001.11:197122508:G:A p.(Asp1159=) NC_000001.11:197122508:G:A p.(Asp1159=) NC_000001.11:197122508:G:A Identity +NM_002296.4:c.1329G>C NP_002287.2:p.Thr443= NC_000001.11:225406817:C:G p.(Thr443=) NC_000001.11:225406817:C:G p.(Thr443=) NC_000001.11:225406817:C:G Identity +NM_001371986.1:c.5469C>T NP_001358915.1:p.Pro1823= NC_000002.12:209921624:C:T p.(Pro1823=) NC_000002.12:209921624:C:T p.(Pro1823=) NC_000002.12:209921624:C:T Identity +NM_000663.5:c.1149G>C NP_000654.2:p.Leu383= NC_000016.10:8776369:G:C p.(Leu383=) NC_000016.10:8776369:G:C p.(Leu383=) NC_000016.10:8776369:G:C Identity +NM_001080463.2:c.10905A>C NP_001073932.1:p.Thr3635= NC_000011.10:103283078:A:C p.(Thr3635=) NC_000011.10:103283078:A:C p.(Thr3635=) NC_000011.10:103283078:A:C Identity +NM_001386140.1:c.1803C>A NP_001373069.1:p.Val601= NC_000004.12:99611175:C:A p.(Val601=) NC_000004.12:99611175:C:A p.(Val601=) NC_000004.12:99611175:C:A Identity +NM_005562.3:c.1143G>A NP_005553.2:p.Gln381= NC_000001.11:183226773:G:A p.(Gln381=) NC_000001.11:183226773:G:A p.(Gln381=) NC_000001.11:183226773:G:A Identity +NM_001261406.2:c.5631G>C NP_001248335.1:p.Gly1877= NC_000009.12:13110734:C:G p.(Gly1877=) NC_000009.12:13110734:C:G p.(Gly1877=) NC_000009.12:13110734:C:G Identity +NM_006019.4:c.657C>T NP_006010.2:p.Phe219= NC_000011.10:68043596:C:T p.(Phe219=) NC_000011.10:68043596:C:T p.(Phe219=) NC_000011.10:68043596:C:T Identity +NM_001142800.2:c.9234T>G NP_001136272.1:p.Ala3078= NC_000006.12:63720796:A:C p.(Ala3078=) NC_000006.12:63720796:A:C p.(Ala3078=) NC_000006.12:63720796:A:C Identity +NM_012327.6:c.468A>G NP_036459.1:p.Thr156= NC_000018.10:62154625:T:C p.(Thr156=) NC_000018.10:62154625:T:C p.(Thr156=) NC_000018.10:62154625:T:C Identity +NM_024513.4:c.1119C>A NP_078789.2:p.Ala373= NC_000003.12:45968214:G:T p.(Ala373=) NC_000003.12:45968214:G:T p.(Ala373=) NC_000003.12:45968214:G:T Identity +NM_001278055.2:c.9498A>G NP_001264984.1:p.Pro3166= NC_000013.11:23333936:T:C p.(Pro3166=) NC_000013.11:23333936:T:C p.(Pro3166=) NC_000013.11:23333936:T:C Identity +NM_001146261.4:c.1266G>A NP_001139733.1:p.Leu422= NC_000001.11:210100427:G:A p.(Leu422=) NC_000001.11:210100427:G:A p.(Leu422=) NC_000001.11:210100427:G:A Identity +NM_005876.5:c.8502G>A NP_005867.3:p.Ser2834= NC_000002.12:219489519:G:A p.(Ser2834=) NC_000002.12:219489519:G:A p.(Ser2834=) NC_000002.12:219489519:G:A Identity +NM_001113755.3:c.564T>C NP_001107227.1:p.Ser188= NC_000022.11:50527669:A:G p.(Ser188=) NC_000022.11:50527669:A:G p.(Ser188=) NC_000022.11:50527669:A:G Identity +NM_000426.4:c.4674C>T NP_000417.3:p.Asp1558= NC_000006.12:129353313:C:T p.(Asp1558=) NC_000006.12:129353313:C:T p.(Asp1558=) NC_000006.12:129353313:C:T Identity +NM_013435.3:c.135C>T NP_038463.2:p.Asp45= NC_000018.10:59273071:G:A p.(Asp45=) NC_000018.10:59273071:G:A p.(Asp45=) NC_000018.10:59273071:G:A Identity +NM_001167961.2:c.90G>C NP_001161433.1:p.Pro30= NC_000007.14:66629153:G:C p.(Pro30=) NC_000007.14:66629153:G:C p.(Pro30=) NC_000007.14:66629153:G:C Identity +NM_138477.4:c.483C>T NP_612486.2:p.Arg161= NC_000015.10:42736387:G:A p.(Arg161=) NC_000015.10:42736387:G:A p.(Arg161=) NC_000015.10:42736387:G:A Identity +NM_001384732.1:c.9060G>A NP_001371661.1:p.Ala3020= NC_000005.10:37121741:C:T p.(Ala3020=) NC_000005.10:37121741:C:T p.(Ala3020=) NC_000005.10:37121741:C:T Identity +NM_001318502.2:c.1476G>A NP_001305431.1:p.Leu492= NC_000009.12:136431893:C:T p.(Leu492=) NC_000009.12:136431893:C:T p.(Leu492=) NC_000009.12:136431893:C:T Identity +NM_000411.8:c.375C>T NP_000402.3:p.Ala125= NC_000021.9:36937069:G:A p.(Ala125=) NC_000021.9:36937069:G:A p.(Ala125=) NC_000021.9:36937069:G:A Identity +NM_000426.4:c.7023T>A NP_000417.3:p.Ile2341= NC_000006.12:129464319:T:A p.(Ile2341=) NC_000006.12:129464319:T:A p.(Ile2341=) NC_000006.12:129464319:T:A Identity +NM_001286075.2:c.1782C>T NP_001273004.1:p.Ala594= NC_000016.10:28901918:C:T p.(Ala594=) NC_000016.10:28901918:C:T p.(Ala594=) NC_000016.10:28901918:C:T Identity +NM_000426.4:c.6381C>A NP_000417.3:p.Ile2127= NC_000006.12:129445772:C:A p.(Ile2127=) NC_000006.12:129445772:C:A p.(Ile2127=) NC_000006.12:129445772:C:A Identity +NM_030928.4:c.441T>C NP_112190.2:p.Ala147= NC_000016.10:88804850:T:C p.(Ala147=) NC_000016.10:88804850:T:C p.(Ala147=) NC_000016.10:88804850:T:C Identity +NM_018136.5:c.8079A>G NP_060606.3:p.Thr2693= NC_000001.11:197101171:T:C p.(Thr2693=) NC_000001.11:197101171:T:C p.(Thr2693=) NC_000001.11:197101171:T:C Identity +NM_001171933.1:c.2157C>T NP_001165404.1:p.Ile719= NC_000010.11:71809973:C:T p.(Ile719=) NC_000010.11:71809973:C:T p.(Ile719=) NC_000010.11:71809973:C:T Identity +NM_000787.4:c.1656G>A NP_000778.3:p.Leu552= NC_000009.12:133657162:G:A p.(Leu552=) NC_000009.12:133657162:G:A p.(Leu552=) NC_000009.12:133657162:G:A Identity +NM_001291860.2:c.3849C>T NP_001278789.1:p.Ser1283= NC_000001.11:21873038:G:A p.(Ser1283=) NC_000001.11:21873038:G:A p.(Ser1283=) NC_000001.11:21873038:G:A Identity +NM_001145472.3:c.1359C>G NP_001138944.1:p.Leu453= NC_000018.10:46524755:G:C p.(Leu453=) NC_000018.10:46524755:G:C p.(Leu453=) NC_000018.10:46524755:G:C Identity +NM_001142763.2:c.3465C>T NP_001136235.1:p.Ile1155= NC_000010.11:53903293:G:A p.(Ile1155=) NC_000010.11:53903293:G:A p.(Ile1155=) NC_000010.11:53903293:G:A Identity +NM_000195.5:c.1545G>A NP_000186.2:p.Thr515= NC_000010.11:98423655:C:T p.(Thr515=) NC_000010.11:98423655:C:T p.(Thr515=) NC_000010.11:98423655:C:T Identity +NM_001160210.2:c.720G>A NP_001153682.1:p.Leu240= NC_000007.14:96191142:C:T p.(Leu240=) NC_000007.14:96191142:C:T p.(Leu240=) NC_000007.14:96191142:C:T Identity +NM_000158.4:c.1581G>C NP_000149.4:p.Thr527= NC_000003.12:81577961:C:G p.(Thr527=) NC_000003.12:81577961:C:G p.(Thr527=) NC_000003.12:81577961:C:G Identity +NM_021798.4:c.609G>A NP_068570.1:p.Gly203= NC_000016.10:27444642:G:A p.(Gly203=) NC_000016.10:27444642:G:A p.(Gly203=) NC_000016.10:27444642:G:A Identity +NM_000082.4:c.957T>C NP_000073.1:p.Tyr319= NC_000005.10:60890972:A:G p.(Tyr319=) NC_000005.10:60890972:A:G p.(Tyr319=) NC_000005.10:60890972:A:G Identity +NM_001308258.2:c.1005C>T NP_001295187.1:p.Tyr335= NC_000003.12:149155205:C:T p.(Tyr335=) NC_000003.12:149155205:C:T p.(Tyr335=) NC_000003.12:149155205:C:T Identity +NM_001308164.2:c.2289T>C NP_001295093.1:p.Val763= NC_000003.12:158691442:T:C p.(Val763=) NC_000003.12:158691442:T:C p.(Val763=) NC_000003.12:158691442:T:C Identity +NM_006612.6:c.1426C>T NP_006603.2:p.Leu476= NC_000017.11:5007476:C:T p.(Leu476=) NC_000017.11:5007476:C:T p.(Leu476=) NC_000017.11:5007476:C:T Identity +NM_139025.5:c.3751A>C NP_620594.1:p.Arg1251= NC_000009.12:133456577:A:C p.(Arg1251=) NC_000009.12:133456577:A:C p.(Arg1251=) NC_000009.12:133456577:A:C Identity +NM_001242.5:c.429C>T NP_001233.2:p.Thr143= NC_000012.12:6450332:C:T p.(Thr143=) NC_000012.12:6450332:C:T p.(Thr143=) NC_000012.12:6450332:C:T Identity +NM_001271999.2:c.1536C>T NP_001258928.1:p.Asp512= NC_000001.11:62618851:G:A p.(Asp512=) NC_000001.11:62618851:G:A p.(Asp512=) NC_000001.11:62618851:G:A Identity +NM_001146261.4:c.1071A>G NP_001139733.1:p.Ala357= NC_000001.11:210100232:A:G p.(Ala357=) NC_000001.11:210100232:A:G p.(Ala357=) NC_000001.11:210100232:A:G Identity +NM_001371986.1:c.3276C>T NP_001358915.1:p.Leu1092= NC_000002.12:209840566:C:T p.(Leu1092=) NC_000002.12:209840566:C:T p.(Leu1092=) NC_000002.12:209840566:C:T Identity +NM_000466.3:c.1152A>G NP_000457.1:p.Leu384= NC_000007.14:92517362:T:C p.(Leu384=) NC_000007.14:92517362:T:C p.(Leu384=) NC_000007.14:92517362:T:C Identity +NM_001178007.2:c.1302C>T NP_001171478.1:p.Ile434= NC_000004.12:122743193:C:T p.(Ile434=) NC_000004.12:122743193:C:T p.(Ile434=) NC_000004.12:122743193:C:T Identity +NM_001143838.3:c.1494C>T NP_001137310.1:p.Val498= NC_000017.11:6686281:G:A p.(Val498=) NC_000017.11:6686281:G:A p.(Val498=) NC_000017.11:6686281:G:A Identity +NM_017813.5:c.975C>T NP_060283.3:p.Tyr325= NC_000008.11:56963897:G:A p.(Tyr325=) NC_000008.11:56963897:G:A p.(Tyr325=) NC_000008.11:56963897:G:A Identity +NM_001024688.3:c.894G>A NP_001019859.1:p.Arg298= NC_000008.11:89955539:C:T p.(Arg298=) NC_000008.11:89955539:C:T p.(Arg298=) NC_000008.11:89955539:C:T Identity +NM_001211.6:c.2799A>G NP_001202.5:p.Val933= NC_000015.10:40217615:A:G p.(Val933=) NC_000015.10:40217615:A:G p.(Val933=) NC_000015.10:40217615:A:G Identity +NM_002439.5:c.2611C>T NP_002430.3:p.Leu871= NC_000005.10:80792799:C:T p.(Leu871=) NC_000005.10:80792799:C:T p.(Leu871=) NC_000005.10:80792799:C:T Identity +NM_001378761.1:c.5586G>T NP_001365690.1:p.Ser1862= NC_000011.10:121158163:G:T p.(Ser1862=) NC_000011.10:121158163:G:T p.(Ser1862=) NC_000011.10:121158163:G:T Identity +NM_133259.4:c.3909T>G NP_573566.2:p.Thr1303= NC_000002.12:43894620:A:C p.(Thr1303=) NC_000002.12:43894620:A:C p.(Thr1303=) NC_000002.12:43894620:A:C Identity +NM_024753.5:c.3162C>T NP_079029.3:p.Asp1054= NC_000002.12:165890579:G:A p.(Asp1054=) NC_000002.12:165890579:G:A p.(Asp1054=) NC_000002.12:165890579:G:A Identity +NM_001142763.2:c.4632A>T NP_001136235.1:p.Ser1544= NC_000010.11:53823114:T:A p.(Ser1544=) NC_000010.11:53823114:T:A p.(Ser1544=) NC_000010.11:53823114:T:A Identity +NM_005562.3:c.438C>T NP_005553.2:p.Ile146= NC_000001.11:183218422:C:T p.(Ile146=) NC_000001.11:183218422:C:T p.(Ile146=) NC_000001.11:183218422:C:T Identity +NM_001386339.1:c.1593A>G NP_001373268.1:p.Pro531= NC_000011.10:9968347:T:C p.(Pro531=) NC_000011.10:9968347:T:C p.(Pro531=) NC_000011.10:9968347:T:C Identity +NM_000259.3:c.1191G>A NP_000250.3:p.Thr397= NC_000015.10:52397328:C:T p.(Thr397=) NC_000015.10:52397328:C:T p.(Thr397=) NC_000015.10:52397328:C:T Identity +NM_001280787.1:c.198C>T NP_001267716.1:p.Ile66= NC_000009.12:133352756:G:A p.(Ile66=) NC_000009.12:133352756:G:A p.(Ile66=) NC_000009.12:133352756:G:A Identity +NM_018451.5:c.3879C>T NP_060921.3:p.Ala1293= NC_000013.11:24883314:G:A p.(Ala1293=) NC_000013.11:24883314:G:A p.(Ala1293=) NC_000013.11:24883314:G:A Identity +NM_001178007.2:c.1554G>A NP_001171478.1:p.Arg518= NC_000004.12:122743445:G:A p.(Arg518=) NC_000004.12:122743445:G:A p.(Arg518=) NC_000004.12:122743445:G:A Identity +NM_000426.4:c.1737G>A NP_000417.3:p.Pro579= NC_000006.12:129192807:G:A p.(Pro579=) NC_000006.12:129192807:G:A p.(Pro579=) NC_000006.12:129192807:G:A Identity +NM_001291860.2:c.8901C>T NP_001278789.1:p.Pro2967= NC_000001.11:21842781:G:A p.(Pro2967=) NC_000001.11:21842781:G:A p.(Pro2967=) NC_000001.11:21842781:G:A Identity +NM_001172631.3:c.3618C>T NP_001166102.1:p.Thr1206= NC_000014.9:102452604:C:T p.(Thr1206=) NC_000014.9:102452604:C:T p.(Thr1206=) NC_000014.9:102452604:C:T Identity +NM_017890.5:c.3873A>G NP_060360.3:p.Gly1291= NC_000008.11:99501688:A:G p.(Gly1291=) NC_000008.11:99501688:A:G p.(Gly1291=) NC_000008.11:99501688:A:G Identity +NM_001346083.2:c.1224C>T NP_001333012.1:p.Ala408= NC_000001.11:205062552:C:T p.(Ala408=) NC_000001.11:205062552:C:T p.(Ala408=) NC_000001.11:205062552:C:T Identity +NM_000466.3:c.2895G>C NP_000457.1:p.Leu965= NC_000007.14:92494517:C:G p.(Leu965=) NC_000007.14:92494517:C:G p.(Leu965=) NC_000007.14:92494517:C:G Identity +NM_000259.3:c.2502C>T NP_000250.3:p.Tyr834= NC_000015.10:52375378:G:A p.(Tyr834=) NC_000015.10:52375378:G:A p.(Tyr834=) NC_000015.10:52375378:G:A Identity +NM_001367473.1:c.750C>T NP_001354402.1:p.Arg250= NC_000001.11:6440699:C:T p.(Arg250=) NC_000001.11:6440699:C:T p.(Arg250=) NC_000001.11:6440699:C:T Identity +NM_001042437.2:c.885C>G NP_001035902.1:p.Ala295= NC_000002.12:85844449:G:C p.(Ala295=) NC_000002.12:85844449:G:C p.(Ala295=) NC_000002.12:85844449:G:C Identity +NM_000071.3:c.720C>A NP_000062.1:p.Ile240= NC_000021.9:43065218:G:T p.(Ile240=) NC_000021.9:43065218:G:T p.(Ile240=) NC_000021.9:43065218:G:T Identity +NM_017890.5:c.7138T>C NP_060360.3:p.Leu2380= NC_000008.11:99766785:T:C p.(Leu2380=) NC_000008.11:99766785:T:C p.(Leu2380=) NC_000008.11:99766785:T:C Identity +NM_173483.4:c.1428C>T NP_775754.2:p.Ile476= NC_000019.10:15551302:C:T p.(Ile476=) NC_000019.10:15551302:C:T p.(Ile476=) NC_000019.10:15551302:C:T Identity +NM_001172810.3:c.1086C>T NP_001166281.1:p.Gly362= NC_000017.11:74305316:C:T p.(Gly362=) NC_000017.11:74305316:C:T p.(Gly362=) NC_000017.11:74305316:C:T Identity +NM_001281737.2:c.1482T>C NP_001268666.1:p.Asp494= NC_000004.12:158706782:T:C p.(Asp494=) NC_000004.12:158706782:T:C p.(Asp494=) NC_000004.12:158706782:T:C Identity +NM_000045.4:c.15C>G NP_000036.2:p.Ser5= NC_000006.12:131573296:C:G p.(Ser5=) NC_000006.12:131573296:C:G p.(Ser5=) NC_000006.12:131573296:C:G Identity +NM_001171930.2:c.2967C>T NP_001165401.1:p.Asn989= NC_000010.11:71706909:C:T p.(Asn989=) NC_000010.11:71706909:C:T p.(Asn989=) NC_000010.11:71706909:C:T Identity +NM_001142763.2:c.4341G>T NP_001136235.1:p.Pro1447= NC_000010.11:53827433:C:A p.(Pro1447=) NC_000010.11:53827433:C:A p.(Pro1447=) NC_000010.11:53827433:C:A Identity +NM_001281737.2:c.1174T>C NP_001268666.1:p.Leu392= NC_000004.12:158706217:T:C p.(Leu392=) NC_000004.12:158706217:T:C p.(Leu392=) NC_000004.12:158706217:T:C Identity +NM_001351059.2:c.996G>A NP_001337988.1:p.Glu332= NC_000011.10:68049664:G:A p.(Glu332=) NC_000011.10:68049664:G:A p.(Glu332=) NC_000011.10:68049664:G:A Identity +NM_001018037.2:c.5481A>G NP_001018047.1:p.Gly1827= NC_000009.12:77321513:A:G p.(Gly1827=) NC_000009.12:77321513:A:G p.(Gly1827=) NC_000009.12:77321513:A:G Identity +NM_133259.4:c.1632A>T NP_573566.2:p.Leu544= NC_000002.12:43957401:T:A p.(Leu544=) NC_000002.12:43957401:T:A p.(Leu544=) NC_000002.12:43957401:T:A Identity +NM_021798.4:c.96G>C NP_068570.1:p.Thr32= NC_000016.10:27434392:G:C p.(Thr32=) NC_000016.10:27434392:G:C p.(Thr32=) NC_000016.10:27434392:G:C Identity +NM_020632.3:c.2154C>T NP_065683.2:p.Asp718= NC_000007.14:138715866:G:A p.(Asp718=) NC_000007.14:138715866:G:A p.(Asp718=) NC_000007.14:138715866:G:A Identity +NM_002439.5:c.2853A>G NP_002430.3:p.Thr951= NC_000005.10:80854168:A:G p.(Thr951=) NC_000005.10:80854168:A:G p.(Thr951=) NC_000005.10:80854168:A:G Identity +NM_000135.4:c.586C>T NP_000126.2:p.Leu196= NC_000016.10:89808303:G:A p.(Leu196=) NC_000016.10:89808303:G:A p.(Leu196=) NC_000016.10:89808303:G:A Identity +NM_001160372.4:c.1533G>C NP_001153844.1:p.Thr511= NC_000008.11:140311336:C:G p.(Thr511=) NC_000008.11:140311336:C:G p.(Thr511=) NC_000008.11:140311336:C:G Identity +NM_001376929.1:c.1035C>A NP_001363858.1:p.Gly345= NC_000001.11:219915682:G:T p.(Gly345=) NC_000001.11:219915682:G:T p.(Gly345=) NC_000001.11:219915682:G:T Identity +NM_001113755.3:c.150C>T NP_001107227.1:p.Ser50= NC_000022.11:50529559:G:A p.(Ser50=) NC_000022.11:50529559:G:A p.(Ser50=) NC_000022.11:50529559:G:A Identity +NM_021167.5:c.117_131del NP_066990.3:p.38_42GAGSG[1] NC_000007.14:92447840:GGCGCGGGCAGCGGGGGCGC:GGCGC p.(Gly43_Gly47del) NC_000007.14:92447840:GGCGCGGGCAGCGGGGGCGC:GGCGC p.(Gly43_Gly47del) NC_000007.14:92447845:GGGCAGCGGGGGCGC: Analogous +NM_000026.4:c.15C>T NP_000017.1:p.Gly5= NC_000022.11:40346572:C:T p.(Gly5=) NC_000022.11:40346572:C:T p.(Gly5=) NC_000022.11:40346572:C:T Identity +NM_000071.3:c.921C>G NP_000062.1:p.Gly307= NC_000021.9:43062985:G:C p.(Gly307=) NC_000021.9:43062985:G:C p.(Gly307=) NC_000021.9:43062985:G:C Identity +NM_001278431.2:c.198C>T NP_001265360.1:p.Gly66= NC_000011.10:119340199:G:A p.(Gly66=) NC_000011.10:119340199:G:A p.(Gly66=) NC_000011.10:119340199:G:A Identity +NM_001005336.3:c.588G>A NP_001005336.1:p.Gln196= NC_000009.12:128219250:G:A p.(Gln196=) NC_000009.12:128219250:G:A p.(Gln196=) NC_000009.12:128219250:G:A Identity +NM_001206846.2:c.1857T>C NP_001193775.1:p.Asn619= NC_000001.11:197142394:A:G p.(Asn619=) NC_000001.11:197142394:A:G p.(Asn619=) NC_000001.11:197142394:A:G Identity +NM_001161504.2:c.1032G>A NP_001154976.1:p.Leu344= NC_000001.11:18876440:C:T p.(Leu344=) NC_000001.11:18876440:C:T p.(Leu344=) NC_000001.11:18876440:C:T Identity +NM_002076.4:c.939T>G NP_002067.1:p.Thr313= NC_000012.12:64739435:A:C p.(Thr313=) NC_000012.12:64739435:A:C p.(Thr313=) NC_000012.12:64739435:A:C Identity +NM_001278055.2:c.8412T>G NP_001264984.1:p.Val2804= NC_000013.11:23335022:A:C p.(Val2804=) NC_000013.11:23335022:A:C p.(Val2804=) NC_000013.11:23335022:A:C Identity +NM_003119.4:c.2373G>A NP_003110.1:p.Pro791= NC_000016.10:89557077:G:A p.(Pro791=) NC_000016.10:89557077:G:A p.(Pro791=) NC_000016.10:89557077:G:A Identity +NM_001083614.2:c.102G>T NP_001077083.1:p.Gly34= NC_000016.10:23557241:C:A p.(Gly34=) NC_000016.10:23557241:C:A p.(Gly34=) NC_000016.10:23557241:C:A Identity +NM_001134453.3:c.1800C>T NP_001127925.1:p.Ala600= NC_000018.10:31406239:C:T p.(Ala600=) NC_000018.10:31406239:C:T p.(Ala600=) NC_000018.10:31406239:C:T Identity +NM_001322019.2:c.63C>G NP_001308948.1:p.Gly21= NC_000002.12:240025238:G:C p.(Gly21=) NC_000002.12:240025238:G:C p.(Gly21=) NC_000002.12:240025238:G:C Identity +NM_001173431.2:c.4419C>T NP_001166902.1:p.Gly1473= NC_000002.12:219556209:G:A p.(Gly1473=) NC_000002.12:219556209:G:A p.(Gly1473=) NC_000002.12:219556209:G:A Identity +NM_000211.5:c.1602C>T NP_000202.3:p.Cys534= NC_000021.9:44890032:G:A p.(Cys534=) NC_000021.9:44890032:G:A p.(Cys534=) NC_000021.9:44890032:G:A Identity +NM_001173408.2:c.1077G>A NP_001166879.1:p.Val359= NC_000002.12:219568259:C:T p.(Val359=) NC_000002.12:219568259:C:T p.(Val359=) NC_000002.12:219568259:C:T Identity +NM_000341.4:c.1254T>C NP_000332.2:p.Thr418= NC_000002.12:44304259:T:C p.(Thr418=) NC_000002.12:44304259:T:C p.(Thr418=) NC_000002.12:44304259:T:C Identity +NM_000255.4:c.846A>G NP_000246.2:p.Ala282= NC_000006.12:49456144:T:C p.(Ala282=) NC_000006.12:49456144:T:C p.(Ala282=) NC_000006.12:49456144:T:C Identity +NM_001378454.1:c.384A>G NP_001365383.1:p.Thr128= NC_000002.12:73408680:A:G p.(Thr128=) NC_000002.12:73408680:A:G p.(Thr128=) NC_000002.12:73408680:A:G Identity +NM_001354726.2:c.711_716del NP_001341655.1:p.Tyr237_Glu239delinsTer NC_000003.12:14158587:TCTTTAT:T p.(Tyr237Ter) NC_000003.12:14158587:TCTTTAT:T p.(Tyr237Ter) NC_000003.12:14158587:TCTTTA: Analogous +NM_020461.4:c.876C>T NP_065194.3:p.Ser292= NC_000022.11:50240232:G:A p.(Ser292=) NC_000022.11:50240232:G:A p.(Ser292=) NC_000022.11:50240232:G:A Identity +NM_001305275.2:c.4680C>T NP_001292204.1:p.Gly1560= NC_000001.11:1049730:C:T p.(Gly1560=) NC_000001.11:1049730:C:T p.(Gly1560=) NC_000001.11:1049730:C:T Identity +NM_001376472.1:c.198G>A NP_001363401.1:p.Ser66= NC_000022.11:50083152:C:T p.(Ser66=) NC_000022.11:50083152:C:T p.(Ser66=) NC_000022.11:50083152:C:T Identity +NM_001281737.2:c.1711T>G NP_001268666.1:p.Ter571Glu NC_000004.12:158708524:T:G p.(Ter571GluextTer13) NC_000004.12:158708524:T:G p.(Ter571GluextTer13) NC_000004.12:158708524:T:G Analogous +NM_001278064.2:c.3408A>G NP_001264993.1:p.Lys1136= NC_000006.12:146434618:A:G p.(Lys1136=) NC_000006.12:146434618:A:G p.(Lys1136=) NC_000006.12:146434618:A:G Identity +NM_013275.6:c.7411_7422del NP_037407.4:p.Thr2471_Gly2474del NC_000016.10:89279119:GCCCGTGTAGGTG:G p.(Thr2471_Gly2474del) NC_000016.10:89279119:GCCCGTGTAGGTG:G p.(Thr2471_Gly2474del) NC_000016.10:89279119:GCCCGTGTAGGT: Identity +NM_001318872.2:c.771T>C NP_001305801.1:p.Asp257= NC_000006.12:5404699:T:C p.(Asp257=) NC_000006.12:5404699:T:C p.(Asp257=) NC_000006.12:5404699:T:C Identity +NM_032119.4:c.8871G>T NP_115495.3:p.Gly2957= NC_000005.10:90711026:G:T p.(Gly2957=) NC_000005.10:90711026:G:T p.(Gly2957=) NC_000005.10:90711026:G:T Identity +NM_001173431.2:c.4542G>A NP_001166902.1:p.Leu1514= NC_000002.12:219556086:C:T p.(Leu1514=) NC_000002.12:219556086:C:T p.(Leu1514=) NC_000002.12:219556086:C:T Identity +NM_002900.3:c.816C>T NP_002891.1:p.Gly272= NC_000010.11:47349299:C:T p.(Gly272=) NC_000010.11:47349299:C:T p.(Gly272=) NC_000010.11:47349299:C:T Identity +NM_020461.4:c.2057_2065del NP_065194.3:p.Ala686_Ser688del NC_000022.11:50224510:CACTCAGTGCACTCAG:CACTCAG p.(Ala686_Ser688del) NC_000022.11:50224510:CACTCAGTGCACTCAG:CACTCAG p.(Ala686_Ser688del) NC_000022.11:50224510:CACTCAGTG: Identity +NM_001142763.2:c.5293_5301del NP_001136235.1:p.Pro1765_Pro1767del NC_000010.11:53822445:AGGAGGAGGAG:AG p.(Pro1765_Pro1767del) NC_000010.11:53822445:AGGAGGAGGAG:AG p.(Pro1765_Pro1767del) NC_000010.11:53822445:AGGAGGAGG: Identity +NM_001289905.2:c.52CTGCTCCTG[1] NP_001276834.1:p.Leu21_Leu23del NC_000022.11:17085141:GCTGCTCCTGCTGCTCCTG:GCTGCTCCTG p.(Leu21_Leu23del) NC_000022.11:17085142:C:CTGCTCCTG ERR:Parse ERR:Parse Identity +NM_133497.4:c.487_495del NP_598004.1:p.Asn163_Tyr165del NC_000009.12:2718220:TCTACAATTTCTAC:TCTAC p.(Asn163_Tyr165del) NC_000009.12:2718220:TCTACAATTTCTAC:TCTAC p.(Asn163_Tyr165del) NC_000009.12:2718225:AATTTCTAC: Identity +NM_001018037.2:c.1304_1313del NP_001018047.1:p.Leu434_Trp435insTer NC_000009.12:77226544:GGTCTTGGTC: p.(Trp435Ter) NC_000009.12:77226544:GGTCTTGGTC: p.(Trp435Ter) NC_000009.12:77226544:GGTCTTGGTC: Analogous +NM_001098802.3:c.1422_1425del NP_001092272.1:p.Glu474_Arg475insTer NC_000009.12:78262940:AAGAAAGA:AAGA p.(Arg475Ter) NC_000009.12:78262940:AAGAAAGA:AAGA p.(Arg475Ter) NC_000009.12:78262944:AAGA: Analogous +NM_002439.5:c.2751G>A NP_002430.3:p.Gln917= NC_000005.10:80813678:G:A p.(Gln917=) NC_000005.10:80813678:G:A p.(Gln917=) NC_000005.10:80813678:G:A Identity +NM_003742.4:c.3204T>C NP_003733.2:p.Gly1068= NC_000002.12:168932385:A:G p.(Gly1068=) NC_000002.12:168932385:A:G p.(Gly1068=) NC_000002.12:168932385:A:G Identity +NM_003742.4:c.3300A>G NP_003733.2:p.Ser1100= NC_000002.12:168930775:T:C p.(Ser1100=) NC_000002.12:168930775:T:C p.(Ser1100=) NC_000002.12:168930775:T:C Identity +NM_006371.5:c.105C>T NP_006362.1:p.Ser35= NC_000003.12:33114181:C:T p.(Ser35=) NC_000003.12:33114181:C:T p.(Ser35=) NC_000003.12:33114181:C:T Identity +NM_001384732.1:c.4695C>T NP_001371661.1:p.Asp1565= NC_000005.10:37183485:G:A p.(Asp1565=) NC_000005.10:37183485:G:A p.(Asp1565=) NC_000005.10:37183485:G:A Identity +NM_001142800.2:c.1536C>T NP_001136272.1:p.Thr512= NC_000006.12:65344100:G:A p.(Thr512=) NC_000006.12:65344100:G:A p.(Thr512=) NC_000006.12:65344100:G:A Identity +NM_015346.4:c.1740A>T NP_056161.2:p.Ser580= NC_000014.9:67798521:T:A p.(Ser580=) NC_000014.9:67798521:T:A p.(Ser580=) NC_000014.9:67798521:T:A Identity +NM_015346.4:c.2190C>T NP_056161.2:p.Ser730= NC_000014.9:67798071:G:A p.(Ser730=) NC_000014.9:67798071:G:A p.(Ser730=) NC_000014.9:67798071:G:A Identity +NM_001288781.1:c.324C>A NP_001275710.1:p.Pro108= NC_000014.9:88841060:C:A p.(Pro108=) NC_000014.9:88841060:C:A p.(Pro108=) NC_000014.9:88841060:C:A Identity +NM_001142763.2:c.4602C>T NP_001136235.1:p.Pro1534= NC_000010.11:53823144:G:A p.(Pro1534=) NC_000010.11:53823144:G:A p.(Pro1534=) NC_000010.11:53823144:G:A Identity +NM_001363746.1:c.628C>A NP_001350675.1:p.Arg210= NC_000009.12:136198765:G:T p.(Arg210=) NC_000009.12:136198765:G:T p.(Arg210=) NC_000009.12:136198765:G:T Identity +NM_001326358.2:c.2724C>T NP_001313287.1:p.Ser908= NC_000016.10:77291427:G:A p.(Ser908=) NC_000016.10:77291427:G:A p.(Ser908=) NC_000016.10:77291427:G:A Identity +NM_133259.4:c.1287T>C NP_573566.2:p.Ala429= NC_000002.12:43973688:A:G p.(Ala429=) NC_000002.12:43973688:A:G p.(Ala429=) NC_000002.12:43973688:A:G Identity +NM_001142800.2:c.1989A>C NP_001136272.1:p.Gly663= NC_000006.12:65295896:T:G p.(Gly663=) NC_000006.12:65295896:T:G p.(Gly663=) NC_000006.12:65295896:T:G Identity +NM_001301031.1:c.102C>T NP_001287960.1:p.Ile34= NC_000015.10:65624181:C:T p.(Ile34=) NC_000015.10:65624181:C:T p.(Ile34=) NC_000015.10:65624181:C:T Identity +NM_020184.4:c.873C>T NP_064569.3:p.Cys291= NC_000002.12:96761871:C:T p.(Cys291=) NC_000002.12:96761871:C:T p.(Cys291=) NC_000002.12:96761871:C:T Identity +NM_001130067.2:c.744G>A NP_001123539.1:p.Gln248= NC_000004.12:153295350:G:A p.(Gln248=) NC_000004.12:153295350:G:A p.(Gln248=) NC_000004.12:153295350:G:A Identity +NM_001018037.2:c.2142A>G NP_001018047.1:p.Thr714= NC_000009.12:77250200:A:G p.(Thr714=) NC_000009.12:77250200:A:G p.(Thr714=) NC_000009.12:77250200:A:G Identity +NM_002900.3:c.1050G>A NP_002891.1:p.Leu350= NC_000010.11:47349533:G:A p.(Leu350=) NC_000010.11:47349533:G:A p.(Leu350=) NC_000010.11:47349533:G:A Identity +NM_000426.4:c.4074A>G NP_000417.3:p.Ser1358= NC_000006.12:129320552:A:G p.(Ser1358=) NC_000006.12:129320552:A:G p.(Ser1358=) NC_000006.12:129320552:A:G Identity +NM_001271933.2:c.2526G>A NP_001258862.1:p.Lys842= NC_000011.10:117393026:G:A p.(Lys842=) NC_000011.10:117393026:G:A p.(Lys842=) NC_000011.10:117393026:G:A Identity +NM_017890.5:c.5448G>A NP_060360.3:p.Gln1816= NC_000008.11:99641962:G:A p.(Gln1816=) NC_000008.11:99641962:G:A p.(Gln1816=) NC_000008.11:99641962:G:A Identity +NM_001278055.2:c.11754T>C NP_001264984.1:p.Ile3918= NC_000013.11:23331680:A:G p.(Ile3918=) NC_000013.11:23331680:A:G p.(Ile3918=) NC_000013.11:23331680:A:G Identity +NM_000137.4:c.855G>T NP_000128.1:p.Pro285= NC_000015.10:80175032:G:T p.(Pro285=) NC_000015.10:80175032:G:T p.(Pro285=) NC_000015.10:80175032:G:T Identity +NM_001271999.2:c.1737T>C NP_001258928.1:p.Ser579= NC_000001.11:62586569:A:G p.(Ser579=) NC_000001.11:62586569:A:G p.(Ser579=) NC_000001.11:62586569:A:G Identity +NM_000359.3:c.1872C>T NP_000350.1:p.Val624= NC_000014.9:24255026:G:A p.(Val624=) NC_000014.9:24255026:G:A p.(Val624=) NC_000014.9:24255026:G:A Identity +NM_133259.4:c.267A>G NP_573566.2:p.Arg89= NC_000002.12:43982316:T:C p.(Arg89=) NC_000002.12:43982316:T:C p.(Arg89=) NC_000002.12:43982316:T:C Identity +NM_000295.5:c.426G>A NP_000286.3:p.Leu142= NC_000014.9:94382811:C:T p.(Leu142=) NC_000014.9:94382811:C:T p.(Leu142=) NC_000014.9:94382811:C:T Identity +NM_004646.4:c.2412C>T NP_004637.1:p.His804= NC_000019.10:35842472:G:A p.(His804=) NC_000019.10:35842472:G:A p.(His804=) NC_000019.10:35842472:G:A Identity +NM_002076.4:c.1518G>A NP_002067.1:p.Arg506= NC_000012.12:64720083:C:T p.(Arg506=) NC_000012.12:64720083:C:T p.(Arg506=) NC_000012.12:64720083:C:T Identity +NM_001384474.1:c.1746G>A NP_001371403.1:p.Gly582= NC_000018.10:46579692:C:T p.(Gly582=) NC_000018.10:46579692:C:T p.(Gly582=) NC_000018.10:46579692:C:T Identity +NM_206933.4:c.5529A>T NP_996816.3:p.Pro1843= NC_000001.11:216078131:T:A p.(Pro1843=) NC_000001.11:216078131:T:A p.(Pro1843=) NC_000001.11:216078131:T:A Identity +NM_001278055.2:c.2533T>C NP_001264984.1:p.Leu845= NC_000013.11:23340901:A:G p.(Leu845=) NC_000013.11:23340901:A:G p.(Leu845=) NC_000013.11:23340901:A:G Identity +NM_000271.5:c.1728G>A NP_000262.2:p.Lys576= NC_000018.10:23548034:C:T p.(Lys576=) NC_000018.10:23548034:C:T p.(Lys576=) NC_000018.10:23548034:C:T Identity +NM_001351059.2:c.924C>T NP_001337988.1:p.Ile308= NC_000011.10:68049224:C:T p.(Ile308=) NC_000011.10:68049224:C:T p.(Ile308=) NC_000011.10:68049224:C:T Identity +NM_001318785.2:c.1092A>G NP_001305714.1:p.Leu364= NC_000006.12:87514989:T:C p.(Leu364=) NC_000006.12:87514989:T:C p.(Leu364=) NC_000006.12:87514989:T:C Identity +NM_206933.4:c.14274T>C NP_996816.3:p.Pro4758= NC_000001.11:215650660:A:G p.(Pro4758=) NC_000001.11:215650660:A:G p.(Pro4758=) NC_000001.11:215650660:A:G Identity +NM_001145472.3:c.969C>T NP_001138944.1:p.Asp323= NC_000018.10:46533234:G:A p.(Asp323=) NC_000018.10:46533234:G:A p.(Asp323=) NC_000018.10:46533234:G:A Identity +NM_006019.4:c.735G>T NP_006010.2:p.Pro245= NC_000011.10:68043834:G:T p.(Pro245=) NC_000011.10:68043834:G:T p.(Pro245=) NC_000011.10:68043834:G:T Identity +NM_000288.4:c.519A>T NP_000279.1:p.Ser173= NC_000006.12:136846173:A:T p.(Ser173=) NC_000006.12:136846173:A:T p.(Ser173=) NC_000006.12:136846173:A:T Identity +NM_000359.3:c.1704T>C NP_000350.1:p.Asn568= NC_000014.9:24255194:A:G p.(Asn568=) NC_000014.9:24255194:A:G p.(Asn568=) NC_000014.9:24255194:A:G Identity +NM_000487.6:c.495G>T NP_000478.3:p.Pro165= NC_000022.11:50627022:C:A p.(Pro165=) NC_000022.11:50627022:C:A p.(Pro165=) NC_000022.11:50627022:C:A Identity +NM_001171971.3:c.1674C>T NP_001165442.1:p.Ser558= NC_000010.11:84212298:C:T p.(Ser558=) NC_000010.11:84212298:C:T p.(Ser558=) NC_000010.11:84212298:C:T Identity +NM_001142800.2:c.4209T>C NP_001136272.1:p.Ile1403= NC_000006.12:64591657:A:G p.(Ile1403=) NC_000006.12:64591657:A:G p.(Ile1403=) NC_000006.12:64591657:A:G Identity +NM_000156.6:c.273C>T NP_000147.1:p.Cys91= NC_000019.10:1399846:G:A p.(Cys91=) NC_000019.10:1399846:G:A p.(Cys91=) NC_000019.10:1399846:G:A Identity +NM_206933.4:c.15534G>A NP_996816.3:p.Glu5178= NC_000001.11:215625855:C:T p.(Glu5178=) NC_000001.11:215625855:C:T p.(Glu5178=) NC_000001.11:215625855:C:T Identity +NM_001018037.2:c.1557C>T NP_001018047.1:p.Ser519= NC_000009.12:77228225:C:T p.(Ser519=) NC_000009.12:77228225:C:T p.(Ser519=) NC_000009.12:77228225:C:T Identity +NM_000094.4:c.2073G>A NP_000085.1:p.Thr691= NC_000003.12:48589695:C:T p.(Thr691=) NC_000003.12:48589695:C:T p.(Thr691=) NC_000003.12:48589695:C:T Identity +NM_020461.4:c.1011C>T NP_065194.3:p.Gly337= NC_000022.11:50233420:G:A p.(Gly337=) NC_000022.11:50233420:G:A p.(Gly337=) NC_000022.11:50233420:G:A Identity +NM_000359.3:c.747C>G NP_000350.1:p.Pro249= NC_000014.9:24260459:G:C p.(Pro249=) NC_000014.9:24260459:G:C p.(Pro249=) NC_000014.9:24260459:G:C Identity +NM_001018037.2:c.3150A>C NP_001018047.1:p.Ser1050= NC_000009.12:77283577:A:C p.(Ser1050=) NC_000009.12:77283577:A:C p.(Ser1050=) NC_000009.12:77283577:A:C Identity +NM_000426.4:c.4071C>T NP_000417.3:p.Ile1357= NC_000006.12:129320549:C:T p.(Ile1357=) NC_000006.12:129320549:C:T p.(Ile1357=) NC_000006.12:129320549:C:T Identity +NM_206933.4:c.8799G>A NP_996816.3:p.Ala2933= NC_000001.11:215867052:C:T p.(Ala2933=) NC_000001.11:215867052:C:T p.(Ala2933=) NC_000001.11:215867052:C:T Identity +NM_000426.4:c.8571A>G NP_000417.3:p.Gln2857= NC_000006.12:129505222:A:G p.(Gln2857=) NC_000006.12:129505222:A:G p.(Gln2857=) NC_000006.12:129505222:A:G Identity +NM_001326358.2:c.357G>A NP_001313287.1:p.Lys119= NC_000016.10:77364286:C:T p.(Lys119=) NC_000016.10:77364286:C:T p.(Lys119=) NC_000016.10:77364286:C:T Identity +NM_001354726.2:c.2055A>C NP_001341655.1:p.Ala685= NC_000003.12:14146129:T:G p.(Ala685=) NC_000003.12:14146129:T:G p.(Ala685=) NC_000003.12:14146129:T:G Identity +NM_206933.4:c.9435C>T NP_996816.3:p.Leu3145= NC_000001.11:215817131:G:A p.(Leu3145=) NC_000001.11:215817131:G:A p.(Leu3145=) NC_000001.11:215817131:G:A Identity +NM_000288.4:c.516T>G NP_000279.1:p.Ala172= NC_000006.12:136846170:T:G p.(Ala172=) NC_000006.12:136846170:T:G p.(Ala172=) NC_000006.12:136846170:T:G Identity +NM_001252020.2:c.3855G>A NP_001238949.1:p.Arg1285= NC_000015.10:31002895:C:T p.(Arg1285=) NC_000015.10:31002895:C:T p.(Arg1285=) NC_000015.10:31002895:C:T Identity +NM_000227.6:c.1278C>T NP_000218.3:p.Leu426= NC_000018.10:23901226:C:T p.(Leu426=) NC_000018.10:23901226:C:T p.(Leu426=) NC_000018.10:23901226:C:T Identity +NM_001034850.3:c.345A>G NP_001030022.1:p.Arg115= NC_000005.10:16572077:T:C p.(Arg115=) NC_000005.10:16572077:T:C p.(Arg115=) NC_000005.10:16572077:T:C Identity +NM_022124.6:c.6396C>T NP_071407.4:p.Ile2132= NC_000010.11:71793323:C:T p.(Ile2132=) NC_000010.11:71793323:C:T p.(Ile2132=) NC_000010.11:71793323:C:T Identity +NM_001178007.2:c.981T>G NP_001171478.1:p.Ser327= NC_000004.12:122742872:T:G p.(Ser327=) NC_000004.12:122742872:T:G p.(Ser327=) NC_000004.12:122742872:T:G Identity +NM_133259.4:c.3219C>G NP_573566.2:p.Leu1073= NC_000002.12:43912487:G:C p.(Leu1073=) NC_000002.12:43912487:G:C p.(Leu1073=) NC_000002.12:43912487:G:C Identity +NM_000352.6:c.4284C>T NP_000343.2:p.Pro1428= NC_000011.10:17395632:G:A p.(Pro1428=) NC_000011.10:17395632:G:A p.(Pro1428=) NC_000011.10:17395632:G:A Identity +NM_001278055.2:c.5064T>C NP_001264984.1:p.Ser1688= NC_000013.11:23338370:A:G p.(Ser1688=) NC_000013.11:23338370:A:G p.(Ser1688=) NC_000013.11:23338370:A:G Identity +NM_001039375.3:c.63G>A NP_001034464.1:p.Ala21= NC_000020.11:13785130:G:A p.(Ala21=) NC_000020.11:13785130:G:A p.(Ala21=) NC_000020.11:13785130:G:A Identity +NM_000487.6:c.492C>T NP_000478.3:p.Phe164= NC_000022.11:50627025:G:A p.(Phe164=) NC_000022.11:50627025:G:A p.(Phe164=) NC_000022.11:50627025:G:A Identity +NM_000159.4:c.51G>A NP_000150.1:p.Leu17= NC_000019.10:12891354:G:A p.(Leu17=) NC_000019.10:12891354:G:A p.(Leu17=) NC_000019.10:12891354:G:A Identity +NM_022725.4:c.1002G>C NP_073562.1:p.Ala334= NC_000011.10:22624808:C:G p.(Ala334=) NC_000011.10:22624808:C:G p.(Ala334=) NC_000011.10:22624808:C:G Identity +NM_000426.4:c.12C>G NP_000417.3:p.Ala4= NC_000006.12:128883256:C:G p.(Ala4=) NC_000006.12:128883256:C:G p.(Ala4=) NC_000006.12:128883256:C:G Identity +NM_001376472.1:c.561A>G NP_001363401.1:p.Glu187= NC_000022.11:50076876:T:C p.(Glu187=) NC_000022.11:50076876:T:C p.(Glu187=) NC_000022.11:50076876:T:C Identity +NM_000071.3:c.1395C>G NP_000062.1:p.Leu465= NC_000021.9:43058216:G:C p.(Leu465=) NC_000021.9:43058216:G:C p.(Leu465=) NC_000021.9:43058216:G:C Identity +NM_206933.4:c.8830A>C NP_996816.3:p.Arg2944= NC_000001.11:215867021:T:G p.(Arg2944=) NC_000001.11:215867021:T:G p.(Arg2944=) NC_000001.11:215867021:T:G Identity +NM_000411.8:c.591C>A NP_000402.3:p.Leu197= NC_000021.9:36936853:G:T p.(Leu197=) NC_000021.9:36936853:G:T p.(Leu197=) NC_000021.9:36936853:G:T Identity +NM_000466.3:c.2472G>A NP_000457.1:p.Ala824= NC_000007.14:92501617:C:T p.(Ala824=) NC_000007.14:92501617:C:T p.(Ala824=) NC_000007.14:92501617:C:T Identity +NM_000663.5:c.741G>A NP_000654.2:p.Pro247= NC_000016.10:8768897:G:A p.(Pro247=) NC_000016.10:8768897:G:A p.(Pro247=) NC_000016.10:8768897:G:A Identity +NM_002900.3:c.1197C>T NP_002891.1:p.Pro399= NC_000010.11:47349680:C:T p.(Pro399=) NC_000010.11:47349680:C:T p.(Pro399=) NC_000010.11:47349680:C:T Identity +NM_001278055.2:c.4650C>T NP_001264984.1:p.Tyr1550= NC_000013.11:23338784:G:A p.(Tyr1550=) NC_000013.11:23338784:G:A p.(Tyr1550=) NC_000013.11:23338784:G:A Identity +NM_001376472.1:c.765G>A NP_001363401.1:p.Lys255= NC_000022.11:50070532:C:T p.(Lys255=) NC_000022.11:50070532:C:T p.(Lys255=) NC_000022.11:50070532:C:T Identity +NM_133259.4:c.2256A>G NP_573566.2:p.Val752= NC_000002.12:43945371:T:C p.(Val752=) NC_000002.12:43945371:T:C p.(Val752=) NC_000002.12:43945371:T:C Identity +NM_000352.6:c.2679G>T NP_000343.2:p.Leu893= NC_000011.10:17410530:C:A p.(Leu893=) NC_000011.10:17410530:C:A p.(Leu893=) NC_000011.10:17410530:C:A Identity +NM_000195.5:c.966C>T NP_000186.2:p.Thr322= NC_000010.11:98427235:G:A p.(Thr322=) NC_000010.11:98427235:G:A p.(Thr322=) NC_000010.11:98427235:G:A Identity +NM_000274.4:c.879C>T NP_000265.1:p.Ala293= NC_000010.11:124402947:G:A p.(Ala293=) NC_000010.11:124402947:G:A p.(Ala293=) NC_000010.11:124402947:G:A Identity +NM_000195.5:c.6G>A NP_000186.2:p.Lys2= NC_000010.11:98443234:C:T p.(Lys2=) NC_000010.11:98443234:C:T p.(Lys2=) NC_000010.11:98443234:C:T Identity +NM_000155.4:c.840G>A NP_000146.2:p.Lys280= NC_000009.12:34649016:G:A p.(Lys280=) NC_000009.12:34649016:G:A p.(Lys280=) NC_000009.12:34649016:G:A Identity +NM_002900.3:c.1479G>A NP_002891.1:p.Leu493= NC_000010.11:47349962:G:A p.(Leu493=) NC_000010.11:47349962:G:A p.(Leu493=) NC_000010.11:47349962:G:A Identity +NM_001805.4:c.216C>T NP_001796.2:p.Pro72= NC_000014.9:23118875:G:A p.(Pro72=) NC_000014.9:23118875:G:A p.(Pro72=) NC_000014.9:23118875:G:A Identity +NM_001308164.2:c.1218A>G NP_001295093.1:p.Thr406= NC_000003.12:158658998:A:G p.(Thr406=) NC_000003.12:158658998:A:G p.(Thr406=) NC_000003.12:158658998:A:G Identity +NM_001039375.3:c.30A>G NP_001034464.1:p.Leu10= NC_000020.11:13785097:A:G p.(Leu10=) NC_000020.11:13785097:A:G p.(Leu10=) NC_000020.11:13785097:A:G Identity +NM_000359.3:c.2265G>A NP_000350.1:p.Ser755= NC_000014.9:24249501:C:T p.(Ser755=) NC_000014.9:24249501:C:T p.(Ser755=) NC_000014.9:24249501:C:T Identity +NM_001142800.2:c.8577A>G NP_001136272.1:p.Gln2859= NC_000006.12:63721453:T:C p.(Gln2859=) NC_000006.12:63721453:T:C p.(Gln2859=) NC_000006.12:63721453:T:C Identity +NM_004646.4:c.2310G>C NP_004637.1:p.Pro770= NC_000019.10:35843495:C:G p.(Pro770=) NC_000019.10:35843495:C:G p.(Pro770=) NC_000019.10:35843495:C:G Identity +NM_000227.6:c.4719T>C NP_000218.3:p.Leu1573= NC_000018.10:23950062:T:C p.(Leu1573=) NC_000018.10:23950062:T:C p.(Leu1573=) NC_000018.10:23950062:T:C Identity +NM_001379352.1:c.486G>T NP_001366281.1:p.Pro162= NC_000001.11:146019345:C:A p.(Pro162=) NC_000001.11:146019345:C:A p.(Pro162=) NC_000001.11:146019345:C:A Identity +NM_001308258.2:c.2034C>T NP_001295187.1:p.Val678= NC_000003.12:149163888:C:T p.(Val678=) NC_000003.12:149163888:C:T p.(Val678=) NC_000003.12:149163888:C:T Identity +NM_001330660.2:c.2115G>A NP_001317589.1:p.Leu705= NC_000009.12:35738313:C:T p.(Leu705=) NC_000009.12:35738313:C:T p.(Leu705=) NC_000009.12:35738313:C:T Identity +NM_001293273.2:c.757T>C NP_001280202.1:p.Leu253= NC_000003.12:183041725:A:G p.(Leu253=) NC_000003.12:183041725:A:G p.(Leu253=) NC_000003.12:183041725:A:G Identity +NM_032119.4:c.15522C>T NP_115495.3:p.Asn5174= NC_000005.10:90810781:C:T p.(Asn5174=) NC_000005.10:90810781:C:T p.(Asn5174=) NC_000005.10:90810781:C:T Identity +NM_001252020.2:c.1935T>C NP_001238949.1:p.Ser645= NC_000015.10:31042153:A:G p.(Ser645=) NC_000015.10:31042153:A:G p.(Ser645=) NC_000015.10:31042153:A:G Identity +NM_001350246.2:c.51A>C NP_001337175.1:p.Ala17= NC_000001.11:243316778:A:C p.(Ala17=) NC_000001.11:243316778:A:C p.(Ala17=) NC_000001.11:243316778:A:C Identity +NM_001145873.1:c.262C>A NP_001139345.1:p.Arg88= NC_000002.12:86790468:G:T p.(Arg88=) NC_000002.12:86790468:G:T p.(Arg88=) NC_000002.12:86790468:G:T Identity +NM_000135.4:c.3342T>C NP_000126.2:p.Ser1114= NC_000016.10:89748664:A:G p.(Ser1114=) NC_000016.10:89748664:A:G p.(Ser1114=) NC_000016.10:89748664:A:G Identity +NM_000352.6:c.1830A>G NP_000343.2:p.Leu610= NC_000011.10:17428657:T:C p.(Leu610=) NC_000011.10:17428657:T:C p.(Leu610=) NC_000011.10:17428657:T:C Identity +NM_000352.6:c.3078G>C NP_000343.2:p.Leu1026= NC_000011.10:17406971:C:G p.(Leu1026=) NC_000011.10:17406971:C:G p.(Leu1026=) NC_000011.10:17406971:C:G Identity +NM_001178007.2:c.97C>T NP_001171478.1:p.Leu33= NC_000004.12:122741988:C:T p.(Leu33=) NC_000004.12:122741988:C:T p.(Leu33=) NC_000004.12:122741988:C:T Identity +NM_018190.4:c.1725C>T NP_060660.2:p.Ile575= NC_000004.12:121828679:G:A p.(Ile575=) NC_000004.12:121828679:G:A p.(Ile575=) NC_000004.12:121828679:G:A Identity +NM_000295.5:c.663C>T NP_000286.3:p.Pro221= NC_000014.9:94381124:G:A p.(Pro221=) NC_000014.9:94381124:G:A p.(Pro221=) NC_000014.9:94381124:G:A Identity +NM_007123.6:c.3372C>T NP_009054.6:p.Tyr1124= NC_000001.11:216200065:G:A p.(Tyr1124=) NC_000001.11:216200065:G:A p.(Tyr1124=) NC_000001.11:216200065:G:A Identity +NM_001145873.1:c.6C>T NP_001139345.1:p.Ala2= NC_000002.12:86790819:G:A p.(Ala2=) NC_000002.12:86790819:G:A p.(Ala2=) NC_000002.12:86790819:G:A Identity +NM_001145770.3:c.1992C>T NP_001139242.1:p.Ser664= NC_000016.10:57663509:C:T p.(Ser664=) NC_000016.10:57663509:C:T p.(Ser664=) NC_000016.10:57663509:C:T Identity +NM_152468.5:c.450C>T NP_689681.2:p.Thr150= NC_000017.11:78132788:C:T p.(Thr150=) NC_000017.11:78132788:C:T p.(Thr150=) NC_000017.11:78132788:C:T Identity +NM_000288.4:c.57C>T NP_000279.1:p.Gly19= NC_000006.12:136822721:C:T p.(Gly19=) NC_000006.12:136822721:C:T p.(Gly19=) NC_000006.12:136822721:C:T Identity +NM_206933.4:c.14601C>T NP_996816.3:p.His4867= NC_000001.11:215647711:G:A p.(His4867=) NC_000001.11:215647711:G:A p.(His4867=) NC_000001.11:215647711:G:A Identity +NM_017890.5:c.7377A>G NP_060360.3:p.Thr2459= NC_000008.11:99776828:A:G p.(Thr2459=) NC_000008.11:99776828:A:G p.(Thr2459=) NC_000008.11:99776828:A:G Identity +NM_001206855.3:c.1086G>A NP_001193784.1:p.Leu362= NC_000007.14:100627912:C:T p.(Leu362=) NC_000007.14:100627912:C:T p.(Leu362=) NC_000007.14:100627912:C:T Identity +NM_015243.3:c.1584T>C NP_056058.2:p.Ala528= NC_000008.11:99136684:T:C p.(Ala528=) NC_000008.11:99136684:T:C p.(Ala528=) NC_000008.11:99136684:T:C Identity +NM_001206855.3:c.1770C>T NP_001193784.1:p.Ala590= NC_000007.14:100620979:G:A p.(Ala590=) NC_000007.14:100620979:G:A p.(Ala590=) NC_000007.14:100620979:G:A Identity +NM_001145770.3:c.1080T>C NP_001139242.1:p.His360= NC_000016.10:57656529:T:C p.(His360=) NC_000016.10:57656529:T:C p.(His360=) NC_000016.10:57656529:T:C Identity +NM_000843.4:c.1437T>C NP_000834.2:p.Asn479= NC_000005.10:178986900:A:G p.(Asn479=) NC_000005.10:178986900:A:G p.(Asn479=) NC_000005.10:178986900:A:G Identity +NM_000426.4:c.7191C>T NP_000417.3:p.His2397= NC_000006.12:129465179:C:T p.(His2397=) NC_000006.12:129465179:C:T p.(His2397=) NC_000006.12:129465179:C:T Identity +NM_001005336.3:c.1089C>T NP_001005336.1:p.Asn363= NC_000009.12:128222556:C:T p.(Asn363=) NC_000009.12:128222556:C:T p.(Asn363=) NC_000009.12:128222556:C:T Identity +NM_001199917.2:c.1506C>T NP_001186846.1:p.Pro502= NC_000006.12:83170421:G:A p.(Pro502=) NC_000006.12:83170421:G:A p.(Pro502=) NC_000006.12:83170421:G:A Identity +NM_001354726.2:c.141C>T NP_001341655.1:p.Arg47= NC_000003.12:14165486:G:A p.(Arg47=) NC_000003.12:14165486:G:A p.(Arg47=) NC_000003.12:14165486:G:A Identity +NM_001281737.2:c.1224A>G NP_001268666.1:p.Arg408= NC_000004.12:158706267:A:G p.(Arg408=) NC_000004.12:158706267:A:G p.(Arg408=) NC_000004.12:158706267:A:G Identity +NM_015346.4:c.3441G>A NP_056161.2:p.Arg1147= NC_000014.9:67785140:C:T p.(Arg1147=) NC_000014.9:67785140:C:T p.(Arg1147=) NC_000014.9:67785140:C:T Identity +NM_000352.6:c.1159T>C NP_000343.2:p.Leu387= NC_000011.10:17453135:A:G p.(Leu387=) NC_000011.10:17453135:A:G p.(Leu387=) NC_000011.10:17453135:A:G Identity +NM_001805.4:c.249T>C NP_001796.2:p.Pro83= NC_000014.9:23118842:A:G p.(Pro83=) NC_000014.9:23118842:A:G p.(Pro83=) NC_000014.9:23118842:A:G Identity +NM_001145472.3:c.819C>A NP_001138944.1:p.Gly273= NC_000018.10:46534394:G:T p.(Gly273=) NC_000018.10:46534394:G:T p.(Gly273=) NC_000018.10:46534394:G:T Identity +NM_206933.4:c.5874A>G NP_996816.3:p.Pro1958= NC_000001.11:216070275:T:C p.(Pro1958=) NC_000001.11:216070275:T:C p.(Pro1958=) NC_000001.11:216070275:T:C Identity +NM_020184.4:c.1734A>C NP_064569.3:p.Leu578= NC_000002.12:96799108:A:C p.(Leu578=) NC_000002.12:96799108:A:C p.(Leu578=) NC_000002.12:96799108:A:C Identity +NM_000094.4:c.1650C>G NP_000085.1:p.Thr550= NC_000003.12:48590802:G:C p.(Thr550=) NC_000003.12:48590802:G:C p.(Thr550=) NC_000003.12:48590802:G:C Identity +NM_018190.4:c.1116A>G NP_060660.2:p.Ala372= NC_000004.12:121845617:T:C p.(Ala372=) NC_000004.12:121845617:T:C p.(Ala372=) NC_000004.12:121845617:T:C Identity +NM_000227.6:c.732C>T NP_000218.3:p.Ser244= NC_000018.10:23895003:C:T p.(Ser244=) NC_000018.10:23895003:C:T p.(Ser244=) NC_000018.10:23895003:C:T Identity +NM_000359.3:c.1908G>A NP_000350.1:p.Val636= NC_000014.9:24254990:C:T p.(Val636=) NC_000014.9:24254990:C:T p.(Val636=) NC_000014.9:24254990:C:T Identity +NM_001171933.1:c.216G>A NP_001165404.1:p.Gly72= NC_000010.11:71798459:G:A p.(Gly72=) NC_000010.11:71798459:G:A p.(Gly72=) NC_000010.11:71798459:G:A Identity +NM_000091.5:c.4056G>A NP_000082.2:p.Lys1352= NC_000002.12:227304046:G:A p.(Lys1352=) NC_000002.12:227304046:G:A p.(Lys1352=) NC_000002.12:227304046:G:A Identity +NM_015072.5:c.909G>A NP_055887.3:p.Leu303= NC_000014.9:75719800:G:A p.(Leu303=) NC_000014.9:75719800:G:A p.(Leu303=) NC_000014.9:75719800:G:A Identity +NM_001286075.2:c.2100G>A NP_001273004.1:p.Lys700= NC_000016.10:28902336:G:A p.(Lys700=) NC_000016.10:28902336:G:A p.(Lys700=) NC_000016.10:28902336:G:A Identity +NM_000426.4:c.8457A>G NP_000417.3:p.Arg2819= NC_000006.12:129503189:A:G p.(Arg2819=) NC_000006.12:129503189:A:G p.(Arg2819=) NC_000006.12:129503189:A:G Identity +NM_001330540.2:c.657A>C NP_001317469.1:p.Pro219= NC_000001.11:45509193:A:C p.(Pro219=) NC_000001.11:45509193:A:C p.(Pro219=) NC_000001.11:45509193:A:C Identity +NM_001099679.2:c.1530A>C NP_001093149.1:p.Leu510= NC_000009.12:116699271:A:C p.(Leu510=) NC_000009.12:116699271:A:C p.(Leu510=) NC_000009.12:116699271:A:C Identity +NM_000411.8:c.369G>A NP_000402.3:p.Ala123= NC_000021.9:36937075:C:T p.(Ala123=) NC_000021.9:36937075:C:T p.(Ala123=) NC_000021.9:36937075:C:T Identity +NM_001178007.2:c.1698A>T NP_001171478.1:p.Ser566= NC_000004.12:122743589:A:T p.(Ser566=) NC_000004.12:122743589:A:T p.(Ser566=) NC_000004.12:122743589:A:T Identity +NM_017890.5:c.11508G>A NP_060360.3:p.Gln3836= NC_000008.11:99870824:G:A p.(Gln3836=) NC_000008.11:99870824:G:A p.(Gln3836=) NC_000008.11:99870824:G:A Identity +NM_001271933.2:c.3480C>A NP_001258862.1:p.Ala1160= NC_000011.10:117397282:C:A p.(Ala1160=) NC_000011.10:117397282:C:A p.(Ala1160=) NC_000011.10:117397282:C:A Identity +NM_015243.3:c.1479C>T NP_056058.2:p.Tyr493= NC_000008.11:99135648:C:T p.(Tyr493=) NC_000008.11:99135648:C:T p.(Tyr493=) NC_000008.11:99135648:C:T Identity +NM_001171933.1:c.3063A>G NP_001165404.1:p.Pro1021= NC_000010.11:71814995:A:G p.(Pro1021=) NC_000010.11:71814995:A:G p.(Pro1021=) NC_000010.11:71814995:A:G Identity +NM_001308258.2:c.2112T>A NP_001295187.1:p.Pro704= NC_000003.12:149167050:T:A p.(Pro704=) NC_000003.12:149167050:T:A p.(Pro704=) NC_000003.12:149167050:T:A Identity +NM_002900.3:c.462C>T NP_002891.1:p.His154= NC_000010.11:47348945:C:T p.(His154=) NC_000010.11:47348945:C:T p.(His154=) NC_000010.11:47348945:C:T Identity +NM_001308258.2:c.945T>G NP_001295187.1:p.Pro315= NC_000003.12:149155145:T:G p.(Pro315=) NC_000003.12:149155145:T:G p.(Pro315=) NC_000003.12:149155145:T:G Identity +NM_001018037.2:c.3933T>C NP_001018047.1:p.Ala1311= NC_000009.12:77308033:T:C p.(Ala1311=) NC_000009.12:77308033:T:C p.(Ala1311=) NC_000009.12:77308033:T:C Identity +NM_133497.4:c.816C>A NP_598004.1:p.Val272= NC_000009.12:2718554:C:A p.(Val272=) NC_000009.12:2718554:C:A p.(Val272=) NC_000009.12:2718554:C:A Identity +NM_032119.4:c.17088T>C NP_115495.3:p.Cys5696= NC_000005.10:90848704:T:C p.(Cys5696=) NC_000005.10:90848704:T:C p.(Cys5696=) NC_000005.10:90848704:T:C Identity +NM_001145770.3:c.51C>T NP_001139242.1:p.Leu17= NC_000016.10:57650337:C:T p.(Leu17=) NC_000016.10:57650337:C:T p.(Leu17=) NC_000016.10:57650337:C:T Identity +NM_000135.4:c.990C>T NP_000126.2:p.His330= NC_000016.10:89795921:G:A p.(His330=) NC_000016.10:89795921:G:A p.(His330=) NC_000016.10:89795921:G:A Identity +NM_000253.4:c.2232A>G NP_000244.2:p.Gln744= NC_000004.12:99618987:A:G p.(Gln744=) NC_000004.12:99618987:A:G p.(Gln744=) NC_000004.12:99618987:A:G Identity +NM_001308164.2:c.1245A>G NP_001295093.1:p.Gln415= NC_000003.12:158659025:A:G p.(Gln415=) NC_000003.12:158659025:A:G p.(Gln415=) NC_000003.12:158659025:A:G Identity +NM_007123.6:c.1569T>C NP_009054.6:p.His523= NC_000001.11:216321957:A:G p.(His523=) NC_000001.11:216321957:A:G p.(His523=) NC_000001.11:216321957:A:G Identity +NM_017946.4:c.222C>T NP_060416.1:p.Pro74= NC_000007.14:30022791:G:A p.(Pro74=) NC_000007.14:30022791:G:A p.(Pro74=) NC_000007.14:30022791:G:A Identity +NM_015346.4:c.5892C>A NP_056161.2:p.Gly1964= NC_000014.9:67766345:G:T p.(Gly1964=) NC_000014.9:67766345:G:T p.(Gly1964=) NC_000014.9:67766345:G:T Identity +NM_001326358.2:c.3132A>G NP_001313287.1:p.Ser1044= NC_000016.10:77283973:T:C p.(Ser1044=) NC_000016.10:77283973:T:C p.(Ser1044=) NC_000016.10:77283973:T:C Identity +NM_000411.8:c.699C>T NP_000402.3:p.Phe233= NC_000021.9:36936745:G:A p.(Phe233=) NC_000021.9:36936745:G:A p.(Phe233=) NC_000021.9:36936745:G:A Identity +NM_020184.4:c.781C>T NP_064569.3:p.Leu261= NC_000002.12:96761779:C:T p.(Leu261=) NC_000002.12:96761779:C:T p.(Leu261=) NC_000002.12:96761779:C:T Identity +NM_001142800.2:c.7053C>A NP_001136272.1:p.Ile2351= NC_000006.12:63984384:G:T p.(Ile2351=) NC_000006.12:63984384:G:T p.(Ile2351=) NC_000006.12:63984384:G:T Identity +NM_000272.5:c.1839C>T NP_000263.2:p.Thr613= NC_000002.12:110129230:G:A p.(Thr613=) NC_000002.12:110129230:G:A p.(Thr613=) NC_000002.12:110129230:G:A Identity +NM_001142763.2:c.1287A>G NP_001136235.1:p.Leu429= NC_000010.11:54195715:T:C p.(Leu429=) NC_000010.11:54195715:T:C p.(Leu429=) NC_000010.11:54195715:T:C Identity +NM_001135024.2:c.1038G>A NP_001128496.2:p.Leu346= NC_000011.10:34992349:G:A p.(Leu346=) NC_000011.10:34992349:G:A p.(Leu346=) NC_000011.10:34992349:G:A Identity +NM_000339.3:c.2550C>T NP_000330.3:p.Gly850= NC_000016.10:56894531:C:T p.(Gly850=) NC_000016.10:56894531:C:T p.(Gly850=) NC_000016.10:56894531:C:T Identity +NM_001127717.4:c.1035C>T NP_001121189.2:p.Ala345= NC_000018.10:23758482:C:T p.(Ala345=) NC_000018.10:23758482:C:T p.(Ala345=) NC_000018.10:23758482:C:T Identity +NM_000426.4:c.2997T>C NP_000417.3:p.Cys999= NC_000006.12:129297824:T:C p.(Cys999=) NC_000006.12:129297824:T:C p.(Cys999=) NC_000006.12:129297824:T:C Identity +NM_020461.4:c.4038C>T NP_065194.3:p.Asn1346= NC_000022.11:50220320:G:A p.(Asn1346=) NC_000022.11:50220320:G:A p.(Asn1346=) NC_000022.11:50220320:G:A Identity +NM_005562.3:c.2499G>A NP_005553.2:p.Glu833= NC_000001.11:183236501:G:A p.(Glu833=) NC_000001.11:183236501:G:A p.(Glu833=) NC_000001.11:183236501:G:A Identity +NM_001271999.2:c.1956T>C NP_001258928.1:p.His652= NC_000001.11:62578881:A:G p.(His652=) NC_000001.11:62578881:A:G p.(His652=) NC_000001.11:62578881:A:G Identity +NM_021922.3:c.903G>A NP_068741.1:p.Gly301= NC_000006.12:35457917:G:A p.(Gly301=) NC_000006.12:35457917:G:A p.(Gly301=) NC_000006.12:35457917:G:A Identity +NM_001308258.2:c.2139G>C NP_001295187.1:p.Pro713= NC_000003.12:149167077:G:C p.(Pro713=) NC_000003.12:149167077:G:C p.(Pro713=) NC_000003.12:149167077:G:C Identity +NM_001145293.2:c.165G>T NP_001138765.1:p.Arg55= NC_000003.12:25778654:C:A p.(Arg55=) NC_000003.12:25778654:C:A p.(Arg55=) NC_000003.12:25778654:C:A Identity +NM_001018037.2:c.4308G>C NP_001018047.1:p.Leu1436= NC_000009.12:77315264:G:C p.(Leu1436=) NC_000009.12:77315264:G:C p.(Leu1436=) NC_000009.12:77315264:G:C Identity +NM_001142800.2:c.1798T>C NP_001136272.1:p.Leu600= NC_000006.12:65296087:A:G p.(Leu600=) NC_000006.12:65296087:A:G p.(Leu600=) NC_000006.12:65296087:A:G Identity +NM_001127198.5:c.2367C>T NP_001120670.1:p.Thr789= NC_000017.11:78113198:G:A p.(Thr789=) NC_000017.11:78113198:G:A p.(Thr789=) NC_000017.11:78113198:G:A Identity +NM_000211.5:c.969C>T NP_000202.3:p.Thr323= NC_000021.9:44899090:G:A p.(Thr323=) NC_000021.9:44899090:G:A p.(Thr323=) NC_000021.9:44899090:G:A Identity +NM_001172631.3:c.3630C>T NP_001166102.1:p.Leu1210= NC_000014.9:102452616:C:T p.(Leu1210=) NC_000014.9:102452616:C:T p.(Leu1210=) NC_000014.9:102452616:C:T Identity +NM_000355.4:c.879G>A NP_000346.2:p.Leu293= NC_000022.11:30615725:G:A p.(Leu293=) NC_000022.11:30615725:G:A p.(Leu293=) NC_000022.11:30615725:G:A Identity +NM_032119.4:c.14073C>T NP_115495.3:p.Asp4691= NC_000005.10:90790901:C:T p.(Asp4691=) NC_000005.10:90790901:C:T p.(Asp4691=) NC_000005.10:90790901:C:T Identity +NM_001377486.1:c.351A>G NP_001364415.1:p.Val117= NC_000016.10:81362514:A:G p.(Val117=) NC_000016.10:81362514:A:G p.(Val117=) NC_000016.10:81362514:A:G Identity +NM_000466.3:c.1878A>G NP_000457.1:p.Arg626= NC_000007.14:92506269:T:C p.(Arg626=) NC_000007.14:92506269:T:C p.(Arg626=) NC_000007.14:92506269:T:C Identity +NM_001171933.1:c.270G>A NP_001165404.1:p.Leu90= NC_000010.11:71798513:G:A p.(Leu90=) NC_000010.11:71798513:G:A p.(Leu90=) NC_000010.11:71798513:G:A Identity +NM_001142800.2:c.4107A>T NP_001136272.1:p.Ser1369= NC_000006.12:64591759:T:A p.(Ser1369=) NC_000006.12:64591759:T:A p.(Ser1369=) NC_000006.12:64591759:T:A Identity +NM_001018037.2:c.6222C>T NP_001018047.1:p.Leu2074= NC_000009.12:77337497:C:T p.(Leu2074=) NC_000009.12:77337497:C:T p.(Leu2074=) NC_000009.12:77337497:C:T Identity +NM_000271.5:c.2865T>C NP_000262.2:p.Ser955= NC_000018.10:23539400:A:G p.(Ser955=) NC_000018.10:23539400:A:G p.(Ser955=) NC_000018.10:23539400:A:G Identity +NM_001114094.2:c.24C>A NP_001107566.1:p.Thr8= NC_000010.11:96271374:G:T p.(Thr8=) NC_000010.11:96271374:G:T p.(Thr8=) NC_000010.11:96271374:G:T Identity +NM_001318785.2:c.843C>A NP_001305714.1:p.Arg281= NC_000006.12:87518676:G:T p.(Arg281=) NC_000006.12:87518676:G:T p.(Arg281=) NC_000006.12:87518676:G:T Identity +NM_001018037.2:c.732T>C NP_001018047.1:p.Ile244= NC_000009.12:77214363:T:C p.(Ile244=) NC_000009.12:77214363:T:C p.(Ile244=) NC_000009.12:77214363:T:C Identity +NM_000492.4:c.3210G>A NP_000483.3:p.Arg1070= NC_000007.14:117611650:G:A p.(Arg1070=) NC_000007.14:117611650:G:A p.(Arg1070=) NC_000007.14:117611650:G:A Identity +NM_000156.6:c.198G>A NP_000147.1:p.Glu66= NC_000019.10:1399921:C:T p.(Glu66=) NC_000019.10:1399921:C:T p.(Glu66=) NC_000019.10:1399921:C:T Identity +NM_020184.4:c.1197G>A NP_064569.3:p.Glu399= NC_000002.12:96762195:G:A p.(Glu399=) NC_000002.12:96762195:G:A p.(Glu399=) NC_000002.12:96762195:G:A Identity +NM_001040113.2:c.4531C>A NP_001035202.1:p.Arg1511= NC_000016.10:15721489:G:T p.(Arg1511=) NC_000016.10:15721489:G:T p.(Arg1511=) NC_000016.10:15721489:G:T Identity +NM_004553.6:c.36C>T NP_004544.1:p.Asn12= NC_000005.10:1801452:C:T p.(Asn12=) NC_000005.10:1801452:C:T p.(Asn12=) NC_000005.10:1801452:C:T Identity +NM_206933.4:c.8514G>T NP_996816.3:p.Val2838= NC_000001.11:215878807:C:A p.(Val2838=) NC_000001.11:215878807:C:A p.(Val2838=) NC_000001.11:215878807:C:A Identity +NM_005562.3:c.2367C>G NP_005553.2:p.Ala789= NC_000001.11:183235640:C:G p.(Ala789=) NC_000001.11:183235640:C:G p.(Ala789=) NC_000001.11:183235640:C:G Identity +NM_003824.4:c.447G>A NP_003815.1:p.Lys149= NC_000011.10:70206292:G:A p.(Lys149=) NC_000011.10:70206292:G:A p.(Lys149=) NC_000011.10:70206292:G:A Identity +NM_133259.4:c.1080A>G NP_573566.2:p.Ala360= NC_000002.12:43974224:T:C p.(Ala360=) NC_000002.12:43974224:T:C p.(Ala360=) NC_000002.12:43974224:T:C Identity +NM_001142800.2:c.6645G>C NP_001136272.1:p.Gly2215= NC_000006.12:64066417:C:G p.(Gly2215=) NC_000006.12:64066417:C:G p.(Gly2215=) NC_000006.12:64066417:C:G Identity +NM_002076.4:c.960C>T NP_002067.1:p.Tyr320= NC_000012.12:64739414:G:A p.(Tyr320=) NC_000012.12:64739414:G:A p.(Tyr320=) NC_000012.12:64739414:G:A Identity +NM_001278055.2:c.1392T>C NP_001264984.1:p.Ala464= NC_000013.11:23354778:A:G p.(Ala464=) NC_000013.11:23354778:A:G p.(Ala464=) NC_000013.11:23354778:A:G Identity +NM_001099679.2:c.1578C>G NP_001093149.1:p.Thr526= NC_000009.12:116699319:C:G p.(Thr526=) NC_000009.12:116699319:C:G p.(Thr526=) NC_000009.12:116699319:C:G Identity +NM_001386339.1:c.5467C>T NP_001373268.1:p.Leu1823= NC_000011.10:9781586:G:A p.(Leu1823=) NC_000011.10:9781586:G:A p.(Leu1823=) NC_000011.10:9781586:G:A Identity +NM_000094.4:c.6171A>C NP_000085.1:p.Pro2057= NC_000003.12:48575347:T:G p.(Pro2057=) NC_000003.12:48575347:T:G p.(Pro2057=) NC_000003.12:48575347:T:G Identity +NM_004646.4:c.984G>A NP_004637.1:p.Gln328= NC_000019.10:35849003:C:T p.(Gln328=) NC_000019.10:35849003:C:T p.(Gln328=) NC_000019.10:35849003:C:T Identity +NM_005562.3:c.3036G>A NP_005553.2:p.Gly1012= NC_000001.11:183239529:G:A p.(Gly1012=) NC_000001.11:183239529:G:A p.(Gly1012=) NC_000001.11:183239529:G:A Identity +NM_001252020.2:c.2283C>T NP_001238949.1:p.Asp761= NC_000015.10:31040201:G:A p.(Asp761=) NC_000015.10:31040201:G:A p.(Asp761=) NC_000015.10:31040201:G:A Identity +NM_001142763.2:c.3324T>C NP_001136235.1:p.Tyr1108= NC_000010.11:53938878:A:G p.(Tyr1108=) NC_000010.11:53938878:A:G p.(Tyr1108=) NC_000010.11:53938878:A:G Identity +NM_001142763.2:c.963A>G NP_001136235.1:p.Pro321= NC_000010.11:54236859:T:C p.(Pro321=) NC_000010.11:54236859:T:C p.(Pro321=) NC_000010.11:54236859:T:C Identity +NM_000380.4:c.114G>C NP_000371.1:p.Leu38= NC_000009.12:97697178:C:G p.(Leu38=) NC_000009.12:97697178:C:G p.(Leu38=) NC_000009.12:97697178:C:G Identity +NM_032119.4:c.3930C>T NP_115495.3:p.Thr1310= NC_000005.10:90653503:C:T p.(Thr1310=) NC_000005.10:90653503:C:T p.(Thr1310=) NC_000005.10:90653503:C:T Identity +NM_001172631.3:c.2451G>C NP_001166102.1:p.Val817= NC_000014.9:102438077:G:C p.(Val817=) NC_000014.9:102438077:G:C p.(Val817=) NC_000014.9:102438077:G:C Identity +NM_000410.4:c.57C>T NP_000401.1:p.Val19= NC_000006.12:26087496:C:T p.(Val19=) NC_000006.12:26087496:C:T p.(Val19=) NC_000006.12:26087496:C:T Identity +NM_001142800.2:c.8310A>G NP_001136272.1:p.Leu2770= NC_000006.12:63721720:T:C p.(Leu2770=) NC_000006.12:63721720:T:C p.(Leu2770=) NC_000006.12:63721720:T:C Identity +NM_001142763.2:c.3339A>G NP_001136235.1:p.Gln1113= NC_000010.11:53938863:T:C p.(Gln1113=) NC_000010.11:53938863:T:C p.(Gln1113=) NC_000010.11:53938863:T:C Identity +NM_000274.4:c.301C>T NP_000265.1:p.Leu101= NC_000010.11:124408863:G:A p.(Leu101=) NC_000010.11:124408863:G:A p.(Leu101=) NC_000010.11:124408863:G:A Identity +NM_001281737.2:c.568C>T NP_001268666.1:p.Leu190= NC_000004.12:158695520:C:T p.(Leu190=) NC_000004.12:158695520:C:T p.(Leu190=) NC_000004.12:158695520:C:T Identity +NM_206933.4:c.7026C>G NP_996816.3:p.Ser2342= NC_000001.11:215965410:G:C p.(Ser2342=) NC_000001.11:215965410:G:C p.(Ser2342=) NC_000001.11:215965410:G:C Identity +NM_002076.4:c.1491A>G NP_002067.1:p.Pro497= NC_000012.12:64720110:T:C p.(Pro497=) NC_000012.12:64720110:T:C p.(Pro497=) NC_000012.12:64720110:T:C Identity +NM_001379352.1:c.58C>T NP_001366281.1:p.Leu20= NC_000001.11:146020173:G:A p.(Leu20=) NC_000001.11:146020173:G:A p.(Leu20=) NC_000001.11:146020173:G:A Identity +NM_016955.4:c.450G>T NP_058651.3:p.Leu150= NC_000004.12:25156133:C:A p.(Leu150=) NC_000004.12:25156133:C:A p.(Leu150=) NC_000004.12:25156133:C:A Identity +NM_001142800.2:c.1116A>T NP_001136272.1:p.Thr372= NC_000006.12:65402545:T:A p.(Thr372=) NC_000006.12:65402545:T:A p.(Thr372=) NC_000006.12:65402545:T:A Identity +NM_003742.4:c.2904G>A NP_003733.2:p.Glu968= NC_000002.12:168935335:C:T p.(Glu968=) NC_000002.12:168935335:C:T p.(Glu968=) NC_000002.12:168935335:C:T Identity +NM_001278055.2:c.5469A>G NP_001264984.1:p.Gly1823= NC_000013.11:23337965:T:C p.(Gly1823=) NC_000013.11:23337965:T:C p.(Gly1823=) NC_000013.11:23337965:T:C Identity +NM_017890.5:c.10614A>G NP_060360.3:p.Val3538= NC_000008.11:99853927:A:G p.(Val3538=) NC_000008.11:99853927:A:G p.(Val3538=) NC_000008.11:99853927:A:G Identity +NM_001081.4:c.8565C>T NP_001072.2:p.Ser2855= NC_000010.11:16899028:G:A p.(Ser2855=) NC_000010.11:16899028:G:A p.(Ser2855=) NC_000010.11:16899028:G:A Identity +NM_002485.5:c.240G>A NP_002476.2:p.Glu80= NC_000008.11:89981454:C:T p.(Glu80=) NC_000008.11:89981454:C:T p.(Glu80=) NC_000008.11:89981454:C:T Identity +NM_004525.3:c.7548C>T NP_004516.2:p.Pro2516= NC_000002.12:169206030:G:A p.(Pro2516=) NC_000002.12:169206030:G:A p.(Pro2516=) NC_000002.12:169206030:G:A Identity +NM_133259.4:c.1170A>T NP_573566.2:p.Leu390= NC_000002.12:43973885:T:A p.(Leu390=) NC_000002.12:43973885:T:A p.(Leu390=) NC_000002.12:43973885:T:A Identity +NM_000157.4:c.1278C>T NP_000148.2:p.Pro426= NC_000001.11:155235790:G:A p.(Pro426=) NC_000001.11:155235790:G:A p.(Pro426=) NC_000001.11:155235790:G:A Identity +NM_206933.4:c.14803C>A NP_996816.3:p.Arg4935= NC_000001.11:215640722:G:T p.(Arg4935=) NC_000001.11:215640722:G:T p.(Arg4935=) NC_000001.11:215640722:G:T Identity +NM_000339.3:c.27G>T NP_000330.3:p.Thr9= NC_000016.10:56865261:G:T p.(Thr9=) NC_000016.10:56865261:G:T p.(Thr9=) NC_000016.10:56865261:G:T Identity +NM_002907.4:c.57T>C NP_002898.2:p.His19= NC_000012.12:21491675:A:G p.(His19=) NC_000012.12:21491675:A:G p.(His19=) NC_000012.12:21491675:A:G Identity +NM_000274.4:c.1089A>T NP_000265.1:p.Leu363= NC_000010.11:124400909:T:A p.(Leu363=) NC_000010.11:124400909:T:A p.(Leu363=) NC_000010.11:124400909:T:A Identity +NM_001318785.2:c.447C>T NP_001305714.1:p.Thr149= NC_000006.12:87524558:G:A p.(Thr149=) NC_000006.12:87524558:G:A p.(Thr149=) NC_000006.12:87524558:G:A Identity +NM_012327.6:c.1254C>G NP_036459.1:p.Val418= NC_000018.10:62113313:G:C p.(Val418=) NC_000018.10:62113313:G:C p.(Val418=) NC_000018.10:62113313:G:C Identity +NM_000339.3:c.2412C>T NP_000330.3:p.Ser804= NC_000016.10:56892125:C:T p.(Ser804=) NC_000016.10:56892125:C:T p.(Ser804=) NC_000016.10:56892125:C:T Identity +NM_001201543.2:c.120G>A NP_001188472.1:p.Ala40= NC_000002.12:61853921:C:T p.(Ala40=) NC_000002.12:61853921:C:T p.(Ala40=) NC_000002.12:61853921:C:T Identity +NM_000274.4:c.174A>G NP_000265.1:p.Leu58= NC_000010.11:124411997:T:C p.(Leu58=) NC_000010.11:124411997:T:C p.(Leu58=) NC_000010.11:124411997:T:C Identity +NM_001201543.2:c.429A>T NP_001188472.1:p.Val143= NC_000002.12:61840574:T:A p.(Val143=) NC_000002.12:61840574:T:A p.(Val143=) NC_000002.12:61840574:T:A Identity +NM_000271.5:c.1842T>C NP_000262.2:p.Asn614= NC_000018.10:23545064:A:G p.(Asn614=) NC_000018.10:23545064:A:G p.(Asn614=) NC_000018.10:23545064:A:G Identity +NM_003227.4:c.369C>T NP_003218.2:p.Asn123= NC_000007.14:100640789:G:A p.(Asn123=) NC_000007.14:100640789:G:A p.(Asn123=) NC_000007.14:100640789:G:A Identity +NM_001122769.3:c.678T>G NP_001116241.1:p.Val226= NC_000006.12:79513253:A:C p.(Val226=) NC_000006.12:79513253:A:C p.(Val226=) NC_000006.12:79513253:A:C Identity +NM_001206855.3:c.1098T>C NP_001193784.1:p.Asp366= NC_000007.14:100627814:A:G p.(Asp366=) NC_000007.14:100627814:A:G p.(Asp366=) NC_000007.14:100627814:A:G Identity +NM_001130067.2:c.984A>G NP_001123539.1:p.Thr328= NC_000004.12:153295590:A:G p.(Thr328=) NC_000004.12:153295590:A:G p.(Thr328=) NC_000004.12:153295590:A:G Identity +NM_001278055.2:c.13032T>C NP_001264984.1:p.Ala4344= NC_000013.11:23330402:A:G p.(Ala4344=) NC_000013.11:23330402:A:G p.(Ala4344=) NC_000013.11:23330402:A:G Identity +NM_206933.4:c.5719C>T NP_996816.3:p.Leu1907= NC_000001.11:216073153:G:A p.(Leu1907=) NC_000001.11:216073153:G:A p.(Leu1907=) NC_000001.11:216073153:G:A Identity +NM_000339.3:c.1449T>C NP_000330.3:p.Leu483= NC_000016.10:56880134:T:C p.(Leu483=) NC_000016.10:56880134:T:C p.(Leu483=) NC_000016.10:56880134:T:C Identity +NM_001142800.2:c.1566T>C NP_001136272.1:p.Ser522= NC_000006.12:65344070:A:G p.(Ser522=) NC_000006.12:65344070:A:G p.(Ser522=) NC_000006.12:65344070:A:G Identity +NM_206933.4:c.10263C>T NP_996816.3:p.Thr3421= NC_000001.11:215786793:G:A p.(Thr3421=) NC_000001.11:215786793:G:A p.(Thr3421=) NC_000001.11:215786793:G:A Identity +NM_133259.4:c.657T>A NP_573566.2:p.Ile219= NC_000002.12:43976222:A:T p.(Ile219=) NC_000002.12:43976222:A:T p.(Ile219=) NC_000002.12:43976222:A:T Identity +NM_002076.4:c.54C>T NP_002067.1:p.His18= NC_000012.12:64759222:G:A p.(His18=) NC_000012.12:64759222:G:A p.(His18=) NC_000012.12:64759222:G:A Identity +NM_206933.4:c.15357G>A NP_996816.3:p.Arg5119= NC_000001.11:215628975:C:T p.(Arg5119=) NC_000001.11:215628975:C:T p.(Arg5119=) NC_000001.11:215628975:C:T Identity +NM_002900.3:c.369T>C NP_002891.1:p.His123= NC_000010.11:47348852:T:C p.(His123=) NC_000010.11:47348852:T:C p.(His123=) NC_000010.11:47348852:T:C Identity +NM_001142800.2:c.7842C>T NP_001136272.1:p.Cys2614= NC_000006.12:63778061:G:A p.(Cys2614=) NC_000006.12:63778061:G:A p.(Cys2614=) NC_000006.12:63778061:G:A Identity +NM_002907.4:c.60A>G NP_002898.2:p.Ala20= NC_000012.12:21491672:T:C p.(Ala20=) NC_000012.12:21491672:T:C p.(Ala20=) NC_000012.12:21491672:T:C Identity +NM_000411.8:c.159T>C NP_000402.3:p.Pro53= NC_000021.9:36937285:A:G p.(Pro53=) NC_000021.9:36937285:A:G p.(Pro53=) NC_000021.9:36937285:A:G Identity +NM_001079866.2:c.789T>C NP_001073335.1:p.Asp263= NC_000002.12:218662578:T:C p.(Asp263=) NC_000002.12:218662578:T:C p.(Asp263=) NC_000002.12:218662578:T:C Identity +NM_000227.6:c.5169C>T NP_000218.3:p.Asp1723= NC_000018.10:23954641:C:T p.(Asp1723=) NC_000018.10:23954641:C:T p.(Asp1723=) NC_000018.10:23954641:C:T Identity +NM_001130067.2:c.567C>T NP_001123539.1:p.Ile189= NC_000004.12:153294346:C:T p.(Ile189=) NC_000004.12:153294346:C:T p.(Ile189=) NC_000004.12:153294346:C:T Identity +NM_001171933.1:c.2373C>T NP_001165404.1:p.Ile791= NC_000010.11:71811329:C:T p.(Ile791=) NC_000010.11:71811329:C:T p.(Ile791=) NC_000010.11:71811329:C:T Identity +NM_001083885.3:c.1119C>T NP_001077354.2:p.Ser373= NC_000009.12:114404045:G:A p.(Ser373=) NC_000009.12:114404045:G:A p.(Ser373=) NC_000009.12:114404045:G:A Identity +NM_001305275.2:c.1932G>A NP_001292204.1:p.Glu644= NC_000001.11:1043955:G:A p.(Glu644=) NC_000001.11:1043955:G:A p.(Glu644=) NC_000001.11:1043955:G:A Identity +NM_001171933.1:c.3006C>T NP_001165404.1:p.Ser1002= NC_000010.11:71813335:C:T p.(Ser1002=) NC_000010.11:71813335:C:T p.(Ser1002=) NC_000010.11:71813335:C:T Identity +NM_000271.5:c.3225C>T NP_000262.2:p.Ala1075= NC_000018.10:23536692:G:A p.(Ala1075=) NC_000018.10:23536692:G:A p.(Ala1075=) NC_000018.10:23536692:G:A Identity +NM_022124.6:c.4422C>T NP_071407.4:p.Asp1474= NC_000010.11:71739705:C:T p.(Asp1474=) NC_000010.11:71739705:C:T p.(Asp1474=) NC_000010.11:71739705:C:T Identity +NM_017890.5:c.11601A>G NP_060360.3:p.Glu3867= NC_000008.11:99871477:A:G p.(Glu3867=) NC_000008.11:99871477:A:G p.(Glu3867=) NC_000008.11:99871477:A:G Identity +NM_015346.4:c.630G>T NP_056161.2:p.Val210= NC_000014.9:67807653:C:A p.(Val210=) NC_000014.9:67807653:C:A p.(Val210=) NC_000014.9:67807653:C:A Identity +NM_206933.4:c.6834A>G NP_996816.3:p.Leu2278= NC_000001.11:215970747:T:C p.(Leu2278=) NC_000001.11:215970747:T:C p.(Leu2278=) NC_000001.11:215970747:T:C Identity +NM_000352.6:c.3465C>G NP_000343.2:p.Val1155= NC_000011.10:17404603:G:C p.(Val1155=) NC_000011.10:17404603:G:C p.(Val1155=) NC_000011.10:17404603:G:C Identity +NM_000492.4:c.16C>T NP_000483.3:p.Leu6= NC_000007.14:117480109:C:T p.(Leu6=) NC_000007.14:117480109:C:T p.(Leu6=) NC_000007.14:117480109:C:T Identity +NM_001172631.3:c.408C>T NP_001166102.1:p.Ser136= NC_000014.9:102408546:C:T p.(Ser136=) NC_000014.9:102408546:C:T p.(Ser136=) NC_000014.9:102408546:C:T Identity +NM_206933.4:c.11961G>A NP_996816.3:p.Lys3987= NC_000001.11:215728134:C:T p.(Lys3987=) NC_000001.11:215728134:C:T p.(Lys3987=) NC_000001.11:215728134:C:T Identity +NM_001142763.2:c.4929A>G NP_001136235.1:p.Lys1643= NC_000010.11:53822817:T:C p.(Lys1643=) NC_000010.11:53822817:T:C p.(Lys1643=) NC_000010.11:53822817:T:C Identity +NM_001172631.3:c.243G>C NP_001166102.1:p.Val81= NC_000014.9:102407360:G:C p.(Val81=) NC_000014.9:102407360:G:C p.(Val81=) NC_000014.9:102407360:G:C Identity +NM_001159772.2:c.6C>T NP_001153244.1:p.Pro2= NC_000017.11:78997616:G:A p.(Pro2=) NC_000017.11:78997616:G:A p.(Pro2=) NC_000017.11:78997616:G:A Identity +NM_001320632.2:c.591G>A NP_001307561.1:p.Pro197= NC_000002.12:127063946:C:T p.(Pro197=) NC_000002.12:127063946:C:T p.(Pro197=) NC_000002.12:127063946:C:T Identity +NM_001160210.2:c.1272T>C NP_001153682.1:p.Asp424= NC_000007.14:96170086:A:G p.(Asp424=) NC_000007.14:96170086:A:G p.(Asp424=) NC_000007.14:96170086:A:G Identity +NM_000094.4:c.7746C>T NP_000085.1:p.Leu2582= NC_000003.12:48568795:G:A p.(Leu2582=) NC_000003.12:48568795:G:A p.(Leu2582=) NC_000003.12:48568795:G:A Identity +NM_001172631.3:c.252G>A NP_001166102.1:p.Leu84= NC_000014.9:102407369:G:A p.(Leu84=) NC_000014.9:102407369:G:A p.(Leu84=) NC_000014.9:102407369:G:A Identity +NM_015346.4:c.2229G>A NP_056161.2:p.Val743= NC_000014.9:67798032:C:T p.(Val743=) NC_000014.9:67798032:C:T p.(Val743=) NC_000014.9:67798032:C:T Identity +NM_000380.4:c.124C>A NP_000371.1:p.Arg42= NC_000009.12:97697168:G:T p.(Arg42=) NC_000009.12:97697168:G:T p.(Arg42=) NC_000009.12:97697168:G:T Identity +NM_001173408.2:c.1797C>G NP_001166879.1:p.Gly599= NC_000002.12:219567312:G:C p.(Gly599=) NC_000002.12:219567312:G:C p.(Gly599=) NC_000002.12:219567312:G:C Identity +NM_004646.4:c.1599C>T NP_004637.1:p.Leu533= NC_000019.10:35846035:G:A p.(Leu533=) NC_000019.10:35846035:G:A p.(Leu533=) NC_000019.10:35846035:G:A Identity +NM_000274.4:c.93A>G NP_000265.1:p.Lys31= NC_000010.11:124412078:T:C p.(Lys31=) NC_000010.11:124412078:T:C p.(Lys31=) NC_000010.11:124412078:T:C Identity +NM_001346083.2:c.1368G>A NP_001333012.1:p.Thr456= NC_000001.11:205064448:G:A p.(Thr456=) NC_000001.11:205064448:G:A p.(Thr456=) NC_000001.11:205064448:G:A Identity +NM_001029883.3:c.2613C>G NP_001025054.1:p.Gly871= NC_000002.12:29071648:G:C p.(Gly871=) NC_000002.12:29071648:G:C p.(Gly871=) NC_000002.12:29071648:G:C Identity +NM_017890.5:c.2982A>G NP_060360.3:p.Lys994= NC_000008.11:99391603:A:G p.(Lys994=) NC_000008.11:99391603:A:G p.(Lys994=) NC_000008.11:99391603:A:G Identity +NM_001354726.2:c.1233C>G NP_001341655.1:p.Ala411= NC_000003.12:14158070:G:C p.(Ala411=) NC_000003.12:14158070:G:C p.(Ala411=) NC_000003.12:14158070:G:C Identity +NM_001135242.2:c.66C>A NP_001128714.1:p.Thr22= NC_000008.11:133280264:G:T p.(Thr22=) NC_000008.11:133280264:G:T p.(Thr22=) NC_000008.11:133280264:G:T Identity +NM_052873.3:c.297A>G NP_443105.2:p.Ser99= NC_000014.9:76076677:A:G p.(Ser99=) NC_000014.9:76076677:A:G p.(Ser99=) NC_000014.9:76076677:A:G Identity +NM_000094.4:c.2019G>A NP_000085.1:p.Glu673= NC_000003.12:48590243:C:T p.(Glu673=) NC_000003.12:48590243:C:T p.(Glu673=) NC_000003.12:48590243:C:T Identity +NM_000094.4:c.4275G>A NP_000085.1:p.Leu1425= NC_000003.12:48583902:C:T p.(Leu1425=) NC_000003.12:48583902:C:T p.(Leu1425=) NC_000003.12:48583902:C:T Identity +NM_017890.5:c.7137C>T NP_060360.3:p.Ser2379= NC_000008.11:99766784:C:T p.(Ser2379=) NC_000008.11:99766784:C:T p.(Ser2379=) NC_000008.11:99766784:C:T Identity +NM_000094.4:c.4761C>G NP_000085.1:p.Pro1587= NC_000003.12:48581593:G:C p.(Pro1587=) NC_000003.12:48581593:G:C p.(Pro1587=) NC_000003.12:48581593:G:C Identity +NM_001252020.2:c.1182C>A NP_001238949.1:p.Ile394= NC_000015.10:31061472:G:T p.(Ile394=) NC_000015.10:31061472:G:T p.(Ile394=) NC_000015.10:31061472:G:T Identity +NM_001257970.1:c.2196C>T NP_001244899.1:p.His732= NC_000017.11:80202396:C:T p.(His732=) NC_000017.11:80202396:C:T p.(His732=) NC_000017.11:80202396:C:T Identity +NM_007123.6:c.423T>G NP_009054.6:p.Ser141= NC_000001.11:216421913:A:C p.(Ser141=) NC_000001.11:216421913:A:C p.(Ser141=) NC_000001.11:216421913:A:C Identity +NM_001316767.2:c.369A>G NP_001303696.1:p.Glu123= NC_000001.11:146018310:T:C p.(Glu123=) NC_000001.11:146018310:T:C p.(Glu123=) NC_000001.11:146018310:T:C Identity +NM_000492.4:c.657A>G NP_000483.3:p.Leu219= NC_000007.14:117535324:A:G p.(Leu219=) NC_000007.14:117535324:A:G p.(Leu219=) NC_000007.14:117535324:A:G Identity +NM_206933.4:c.8184G>A NP_996816.3:p.Gln2728= NC_000001.11:215888464:C:T p.(Gln2728=) NC_000001.11:215888464:C:T p.(Gln2728=) NC_000001.11:215888464:C:T Identity +NM_001378495.1:c.147C>G NP_001365424.1:p.Gly49= NC_000009.12:33166983:G:C p.(Gly49=) NC_000009.12:33166983:G:C p.(Gly49=) NC_000009.12:33166983:G:C Identity +NM_001134793.2:c.546C>T NP_001128265.1:p.Tyr182= NC_000011.10:125899913:C:T p.(Tyr182=) NC_000011.10:125899913:C:T p.(Tyr182=) NC_000011.10:125899913:C:T Identity +NM_206933.4:c.14760C>G NP_996816.3:p.Ser4920= NC_000001.11:215647552:G:C p.(Ser4920=) NC_000001.11:215647552:G:C p.(Ser4920=) NC_000001.11:215647552:G:C Identity +NM_005562.3:c.3499C>T NP_005553.2:p.Leu1167= NC_000001.11:183243316:C:T p.(Leu1167=) NC_000001.11:183243316:C:T p.(Leu1167=) NC_000001.11:183243316:C:T Identity +NM_001201484.2:c.651C>A NP_001188413.1:p.Pro217= NC_000009.12:35094219:G:T p.(Pro217=) NC_000009.12:35094219:G:T p.(Pro217=) NC_000009.12:35094219:G:T Identity +NM_001278055.2:c.10194G>C NP_001264984.1:p.Val3398= NC_000013.11:23333240:C:G p.(Val3398=) NC_000013.11:23333240:C:G p.(Val3398=) NC_000013.11:23333240:C:G Identity +NM_001278055.2:c.11337T>C NP_001264984.1:p.Asp3779= NC_000013.11:23332097:A:G p.(Asp3779=) NC_000013.11:23332097:A:G p.(Asp3779=) NC_000013.11:23332097:A:G Identity +NM_001289905.2:c.882C>T NP_001276834.1:p.Cys294= NC_000022.11:17104760:C:T p.(Cys294=) NC_000022.11:17104760:C:T p.(Cys294=) NC_000022.11:17104760:C:T Identity +NM_001173408.2:c.2424C>T NP_001166879.1:p.Ile808= NC_000002.12:219563610:G:A p.(Ile808=) NC_000002.12:219563610:G:A p.(Ile808=) NC_000002.12:219563610:G:A Identity +NM_001029883.3:c.3525G>A NP_001025054.1:p.Ser1175= NC_000002.12:29070736:C:T p.(Ser1175=) NC_000002.12:29070736:C:T p.(Ser1175=) NC_000002.12:29070736:C:T Identity +NM_001301645.2:c.157_159dup NP_001288574.1:p.Val53dup NC_000004.12:154744481:GGTG:GGTGGTG p.(Val53dup) NC_000004.12:154744481:GGTG:GGTGGTG p.(Val53dup) ERR:SPDI Identity +NM_001278055.2:c.11570_11578del NP_001264984.1:p.Leu3857_Leu3859del NC_000013.11:23331856:ACAAGAGTAAC:AC p.(Leu3857_Leu3859del) NC_000013.11:23331856:ACAAGAGTAAC:AC p.(Leu3857_Leu3859del) NC_000013.11:23331856:ACAAGAGTA: Identity +NM_001128228.3:c.474GCC[3] NP_001121700.2:p.Pro162_Pro164del NC_000009.12:137200220:GGCGGCGGCGGCGGCGGCGG:GGCGGCGGCGG p.(Pro162_Pro164del) NC_000009.12:137200237:C:GGCGGCGGC ERR:Parse ERR:Parse Identity +NM_001287489.2:c.3861C>T NP_001274418.1:p.Asp1287= NC_000002.12:26472521:G:A p.(Asp1287=) NC_000002.12:26472521:G:A p.(Asp1287=) NC_000002.12:26472521:G:A Identity +NM_001031726.4:c.138C>T NP_001026896.3:p.Gly46= NC_000019.10:29708275:G:A p.(Gly46=) NC_000019.10:29708275:G:A p.(Gly46=) NC_000019.10:29708275:G:A Identity +NM_004473.4:c.505GCC[12] NP_004464.2:p.Ala179dup NC_000009.12:97854418:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC p.(Ala179dup) NC_000009.12:97854418:G:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_000414.4:c.1767G>A NP_000405.1:p.Lys589= NC_000005.10:119527218:G:A p.(Lys589=) NC_000005.10:119527218:G:A p.(Lys589=) NC_000005.10:119527218:G:A Identity +NM_022124.6:c.6254_6256delinsCTACTCCCTTTTCCC NP_071407.4:p.Gly2085_Phe2086delinsAlaThrProPheSerLeu NC_000010.11:71793181:GAT:CTACTCCCTTTTCCC p.(Gly2085_Phe2086delinsAlaThrProPheSerLeu) NC_000010.11:71793181:GAT:CTACTCCCTTTTCCC p.(Gly2085_Phe2086delinsAlaThrProPheSerLeu) NC_000010.11:71793181:GAT:CTACTCCCTTTTCCC Identity +NM_000275.3:c.102C>T NP_000266.2:p.Gly34= NC_000015.10:28081772:G:A p.(Gly34=) NC_000015.10:28081772:G:A p.(Gly34=) NC_000015.10:28081772:G:A Identity +NM_000135.4:c.206_207del NP_000126.2:p.Leu68_Cys69insTer NC_000016.10:89814595:ACACA:ACA p.(Cys69Ter) NC_000016.10:89814595:ACACA:ACA p.(Cys69Ter) NC_000016.10:89814595:AC: Analogous +NM_000057.4:c.1782A>G NP_000048.1:p.Lys594= NC_000015.10:90761154:A:G p.(Lys594=) NC_000015.10:90761154:A:G p.(Lys594=) NC_000015.10:90761154:A:G Identity +NM_020207.7:c.4128C>A NP_064592.3:p.Ser1376= NC_000009.12:96012677:C:A p.(Ser1376=) NC_000009.12:96012677:C:A p.(Ser1376=) NC_000009.12:96012677:C:A Identity +NM_006612.6:c.3234C>T NP_006603.2:p.Tyr1078= NC_000017.11:5024072:C:T p.(Tyr1078=) NC_000017.11:5024072:C:T p.(Tyr1078=) NC_000017.11:5024072:C:T Identity +NM_001351059.2:c.1076ACCGCC[3] NP_001337988.1:p.359HR[3] NC_000011.10:68049743:CACCGCCACCGCC:CACCGCCACCGCCACCGCC p.(His361_Arg362dup) NC_000011.10:68049744:A:ACCGCCACCGCCACCGCC ERR:Parse ERR:Parse Analogous +NM_001365213.2:c.1344A>G NP_001352142.1:p.Ala448= NC_000001.11:173850478:A:G p.(Ala448=) NC_000001.11:173850478:A:G p.(Ala448=) NC_000001.11:173850478:A:G Identity +NM_000094.4:c.6066G>T NP_000085.1:p.Gly2022= NC_000003.12:48575452:C:A p.(Gly2022=) NC_000003.12:48575452:C:A p.(Gly2022=) NC_000003.12:48575452:C:A Identity +NM_001077416.2:c.240G>T NP_001070884.2:p.Arg80= NC_000016.10:75556031:C:A p.(Arg80=) NC_000016.10:75556031:C:A p.(Arg80=) NC_000016.10:75556031:C:A Identity +NM_001135024.2:c.657C>T NP_001128496.2:p.Pro219= NC_000011.10:34970158:C:T p.(Pro219=) NC_000011.10:34970158:C:T p.(Pro219=) NC_000011.10:34970158:C:T Identity +NM_004525.3:c.8265A>G NP_004516.2:p.Gln2755= NC_000002.12:169201814:T:C p.(Gln2755=) NC_000002.12:169201814:T:C p.(Gln2755=) NC_000002.12:169201814:T:C Identity +NM_000197.2:c.276C>T NP_000188.1:p.Ile92= NC_000009.12:96254868:G:A p.(Ile92=) NC_000009.12:96254868:G:A p.(Ile92=) NC_000009.12:96254868:G:A Identity +NM_001384732.1:c.9642C>T NP_001371661.1:p.Ser3214= NC_000005.10:37107715:G:A p.(Ser3214=) NC_000005.10:37107715:G:A p.(Ser3214=) NC_000005.10:37107715:G:A Identity +NM_006019.4:c.174_175del NP_006010.2:p.Cys58_Glu59delinsTer NC_000011.10:68041806:TGTG:TG p.(Cys58Ter) NC_000011.10:68041806:TGTG:TG p.(Cys58Ter) NC_000011.10:68041808:TG: Analogous +NM_005876.5:c.4884G>A NP_005867.3:p.Ala1628= NC_000002.12:219477961:G:A p.(Ala1628=) NC_000002.12:219477961:G:A p.(Ala1628=) NC_000002.12:219477961:G:A Identity +NM_020223.4:c.984C>T NP_064608.2:p.Pro328= NC_000007.14:248341:C:T p.(Pro328=) NC_000007.14:248341:C:T p.(Pro328=) NC_000007.14:248341:C:T Identity +NM_014028.4:c.88C>T NP_054747.2:p.Leu30= NC_000006.12:108074563:G:A p.(Leu30=) NC_000006.12:108074563:G:A p.(Leu30=) NC_000006.12:108074563:G:A Identity +NM_001029883.3:c.1053C>T NP_001025054.1:p.Gly351= NC_000002.12:29073208:G:A p.(Gly351=) NC_000002.12:29073208:G:A p.(Gly351=) NC_000002.12:29073208:G:A Identity +NM_001160147.2:c.315G>A NP_001153619.1:p.Glu105= NC_000014.9:53152783:C:T p.(Glu105=) NC_000014.9:53152783:C:T p.(Glu105=) NC_000014.9:53152783:C:T Identity +NM_000843.4:c.2322C>T NP_000834.2:p.Gly774= NC_000005.10:178983023:G:A p.(Gly774=) NC_000005.10:178983023:G:A p.(Gly774=) NC_000005.10:178983023:G:A Identity +NM_032119.4:c.9906G>A NP_115495.3:p.Glu3302= NC_000005.10:90724988:G:A p.(Glu3302=) NC_000005.10:90724988:G:A p.(Glu3302=) NC_000005.10:90724988:G:A Identity +NM_000663.5:c.1311C>T NP_000654.2:p.Gly437= NC_000016.10:8779519:C:T p.(Gly437=) NC_000016.10:8779519:C:T p.(Gly437=) NC_000016.10:8779519:C:T Identity +NM_000255.4:c.714C>G NP_000246.2:p.Ser238= NC_000006.12:49457729:G:C p.(Ser238=) NC_000006.12:49457729:G:C p.(Ser238=) NC_000006.12:49457729:G:C Identity +NM_021798.4:c.942G>A NP_068570.1:p.Leu314= NC_000016.10:27448607:G:A p.(Leu314=) NC_000016.10:27448607:G:A p.(Leu314=) NC_000016.10:27448607:G:A Identity +NM_000275.3:c.1005G>A NP_000266.2:p.Thr335= NC_000015.10:28014814:C:T p.(Thr335=) NC_000015.10:28014814:C:T p.(Thr335=) NC_000015.10:28014814:C:T Identity +NM_002900.3:c.3582G>A NP_002891.1:p.Thr1194= NC_000010.11:47357294:G:A p.(Thr1194=) NC_000010.11:47357294:G:A p.(Thr1194=) NC_000010.11:47357294:G:A Identity +NM_001039141.3:c.6840C>T NP_001034230.1:p.Cys2280= NC_000022.11:37769365:C:T p.(Cys2280=) NC_000022.11:37769365:C:T p.(Cys2280=) NC_000022.11:37769365:C:T Identity +NM_000395.3:c.1095C>T NP_000386.1:p.Tyr365= NC_000022.11:36932846:C:T p.(Tyr365=) NC_000022.11:36932846:C:T p.(Tyr365=) NC_000022.11:36932846:C:T Identity +NM_001135242.2:c.579C>T NP_001128714.1:p.Ser193= NC_000008.11:133254553:G:A p.(Ser193=) NC_000008.11:133254553:G:A p.(Ser193=) NC_000008.11:133254553:G:A Identity +NM_000195.5:c.1176C>T NP_000186.2:p.Ala392= NC_000010.11:98425699:G:A p.(Ala392=) NC_000010.11:98425699:G:A p.(Ala392=) NC_000010.11:98425699:G:A Identity +NM_017890.5:c.9519A>G NP_060360.3:p.Ser3173= NC_000008.11:99832481:A:G p.(Ser3173=) NC_000008.11:99832481:A:G p.(Ser3173=) NC_000008.11:99832481:A:G Identity +NM_057176.3:c.405G>A NP_476517.1:p.Glu135= NC_000001.11:55007128:G:A p.(Glu135=) NC_000001.11:55007128:G:A p.(Glu135=) NC_000001.11:55007128:G:A Identity +NM_001123226.2:c.2124G>A NP_001116698.1:p.Gln708= NC_000006.12:73500659:G:A p.(Gln708=) NC_000006.12:73500659:G:A p.(Gln708=) NC_000006.12:73500659:G:A Identity +NM_005876.5:c.3696C>T NP_005867.3:p.Asp1232= NC_000002.12:219469359:C:T p.(Asp1232=) NC_000002.12:219469359:C:T p.(Asp1232=) NC_000002.12:219469359:C:T Identity +NM_001039375.3:c.135T>C NP_001034464.1:p.Asn45= NC_000020.11:13785202:T:C p.(Asn45=) NC_000020.11:13785202:T:C p.(Asn45=) NC_000020.11:13785202:T:C Identity +NM_001018037.2:c.2598C>T NP_001018047.1:p.Thr866= NC_000009.12:77275582:C:T p.(Thr866=) NC_000009.12:77275582:C:T p.(Thr866=) NC_000009.12:77275582:C:T Identity +NM_000091.5:c.2082A>G NP_000082.2:p.Pro694= NC_000002.12:227277509:A:G p.(Pro694=) NC_000002.12:227277509:A:G p.(Pro694=) NC_000002.12:227277509:A:G Identity +NM_001113755.3:c.18C>T NP_001107227.1:p.Thr6= NC_000022.11:50529691:G:A p.(Thr6=) NC_000022.11:50529691:G:A p.(Thr6=) NC_000022.11:50529691:G:A Identity +NM_001201543.2:c.153G>A NP_001188472.1:p.Glu51= NC_000002.12:61853888:C:T p.(Glu51=) NC_000002.12:61853888:C:T p.(Glu51=) NC_000002.12:61853888:C:T Identity +NM_000285.4:c.756C>T NP_000276.2:p.Ala252= NC_000019.10:33411733:G:A p.(Ala252=) NC_000019.10:33411733:G:A p.(Ala252=) NC_000019.10:33411733:G:A Identity +NM_015346.4:c.4851C>A NP_056161.2:p.Ser1617= NC_000014.9:67777681:G:T p.(Ser1617=) NC_000014.9:67777681:G:T p.(Ser1617=) NC_000014.9:67777681:G:T Identity +NM_020461.4:c.1155G>T NP_065194.3:p.Val385= NC_000022.11:50229538:C:A p.(Val385=) NC_000022.11:50229538:C:A p.(Val385=) NC_000022.11:50229538:C:A Identity +NM_001271933.2:c.3168T>G NP_001258862.1:p.Ala1056= NC_000011.10:117396122:T:G p.(Ala1056=) NC_000011.10:117396122:T:G p.(Ala1056=) NC_000011.10:117396122:T:G Identity +NM_000631.5:c.429G>T NP_000622.2:p.Val143= NC_000022.11:36870500:G:T p.(Val143=) NC_000022.11:36870500:G:T p.(Val143=) NC_000022.11:36870500:G:T Identity +NM_001079866.2:c.333A>G NP_001073335.1:p.Lys111= NC_000002.12:218661417:A:G p.(Lys111=) NC_000002.12:218661417:A:G p.(Lys111=) NC_000002.12:218661417:A:G Identity +NM_001282782.2:c.891A>T NP_001269711.1:p.Pro297= NC_000022.11:46356972:A:T p.(Pro297=) NC_000022.11:46356972:A:T p.(Pro297=) NC_000022.11:46356972:A:T Identity +NM_020461.4:c.3342C>T NP_065194.3:p.Ser1114= NC_000022.11:50221016:G:A p.(Ser1114=) NC_000022.11:50221016:G:A p.(Ser1114=) NC_000022.11:50221016:G:A Identity +NM_000277.3:c.1158T>C NP_000268.1:p.Tyr386= NC_000012.12:102843686:A:G p.(Tyr386=) NC_000012.12:102843686:A:G p.(Tyr386=) NC_000012.12:102843686:A:G Identity +NM_018451.5:c.582G>A NP_060921.3:p.Leu194= NC_000013.11:24910072:C:T p.(Leu194=) NC_000013.11:24910072:C:T p.(Leu194=) NC_000013.11:24910072:C:T Identity +NM_000271.5:c.2652T>C NP_000262.2:p.His884= NC_000018.10:23539953:A:G p.(His884=) NC_000018.10:23539953:A:G p.(His884=) NC_000018.10:23539953:A:G Identity +NM_000135.4:c.2877C>A NP_000126.2:p.Ile959= NC_000016.10:89758680:G:T p.(Ile959=) NC_000016.10:89758680:G:T p.(Ile959=) NC_000016.10:89758680:G:T Identity +NM_000352.6:c.4521C>T NP_000343.2:p.Ala1507= NC_000011.10:17394289:G:A p.(Ala1507=) NC_000011.10:17394289:G:A p.(Ala1507=) NC_000011.10:17394289:G:A Identity +NM_022124.6:c.5139C>T NP_071407.4:p.Ala1713= NC_000010.11:71778259:C:T p.(Ala1713=) NC_000010.11:71778259:C:T p.(Ala1713=) NC_000010.11:71778259:C:T Identity +NM_001289905.2:c.1557G>C NP_001276834.1:p.Leu519= NC_000022.11:17108877:G:C p.(Leu519=) NC_000022.11:17108877:G:C p.(Leu519=) NC_000022.11:17108877:G:C Identity +NM_015346.4:c.279A>G NP_056161.2:p.Leu93= NC_000014.9:67809283:T:C p.(Leu93=) NC_000014.9:67809283:T:C p.(Leu93=) NC_000014.9:67809283:T:C Identity +NM_000227.6:c.4149T>C NP_000218.3:p.Ile1383= NC_000018.10:23939335:T:C p.(Ile1383=) NC_000018.10:23939335:T:C p.(Ile1383=) NC_000018.10:23939335:T:C Identity +NM_000492.4:c.2730C>A NP_000483.3:p.Thr910= NC_000007.14:117603603:C:A p.(Thr910=) NC_000007.14:117603603:C:A p.(Thr910=) NC_000007.14:117603603:C:A Identity +NM_000091.5:c.4938T>A NP_000082.2:p.Ile1646= NC_000002.12:227311794:T:A p.(Ile1646=) NC_000002.12:227311794:T:A p.(Ile1646=) NC_000002.12:227311794:T:A Identity +NM_133259.4:c.3816T>G NP_573566.2:p.Ala1272= NC_000002.12:43899227:A:C p.(Ala1272=) NC_000002.12:43899227:A:C p.(Ala1272=) NC_000002.12:43899227:A:C Identity +NM_000137.4:c.1185C>T NP_000128.1:p.Tyr395= NC_000015.10:80186133:C:T p.(Tyr395=) NC_000015.10:80186133:C:T p.(Tyr395=) NC_000015.10:80186133:C:T Identity +NM_000487.6:c.297G>A NP_000478.3:p.Arg99= NC_000022.11:50627333:C:T p.(Arg99=) NC_000022.11:50627333:C:T p.(Arg99=) NC_000022.11:50627333:C:T Identity +NM_005876.5:c.1323G>C NP_005867.3:p.Ser441= NC_000002.12:219448480:G:C p.(Ser441=) NC_000002.12:219448480:G:C p.(Ser441=) NC_000002.12:219448480:G:C Identity +NM_001318193.2:c.33G>T NP_001305122.2:p.Arg11= NC_000016.10:2047790:C:A p.(Arg11=) NC_000016.10:2047790:C:A p.(Arg11=) NC_000016.10:2047790:C:A Identity +NM_020461.4:c.5307C>T NP_065194.3:p.Asn1769= NC_000022.11:50217978:G:A p.(Asn1769=) NC_000022.11:50217978:G:A p.(Asn1769=) NC_000022.11:50217978:G:A Identity +NM_000382.3:c.198G>A NP_000373.1:p.Gly66= NC_000017.11:19651590:G:A p.(Gly66=) NC_000017.11:19651590:G:A p.(Gly66=) NC_000017.11:19651590:G:A Identity +NM_000288.4:c.84G>A NP_000279.1:p.Leu28= NC_000006.12:136822748:G:A p.(Leu28=) NC_000006.12:136822748:G:A p.(Leu28=) NC_000006.12:136822748:G:A Identity +NM_001193333.3:c.795C>T NP_001180262.1:p.Asp265= NC_000016.10:30187762:C:T p.(Asp265=) NC_000016.10:30187762:C:T p.(Asp265=) NC_000016.10:30187762:C:T Identity +NM_001113755.3:c.543C>G NP_001107227.1:p.Gly181= NC_000022.11:50527690:G:C p.(Gly181=) NC_000022.11:50527690:G:C p.(Gly181=) NC_000022.11:50527690:G:C Identity +NM_032119.4:c.8001T>C NP_115495.3:p.Asp2667= NC_000005.10:90696991:T:C p.(Asp2667=) NC_000005.10:90696991:T:C p.(Asp2667=) NC_000005.10:90696991:T:C Identity +NM_005562.3:c.3529A>C NP_005553.2:p.Arg1177= NC_000001.11:183243346:A:C p.(Arg1177=) NC_000001.11:183243346:A:C p.(Arg1177=) NC_000001.11:183243346:A:C Identity +NM_000426.4:c.6801G>A NP_000417.3:p.Gly2267= NC_000006.12:129456427:G:A p.(Gly2267=) NC_000006.12:129456427:G:A p.(Gly2267=) NC_000006.12:129456427:G:A Identity +NM_001040610.3:c.1194T>C NP_001035700.1:p.His398= NC_000015.10:82220174:A:G p.(His398=) NC_000015.10:82220174:A:G p.(His398=) NC_000015.10:82220174:A:G Identity +NM_000195.5:c.1815G>A NP_000186.2:p.Gly605= NC_000010.11:98420086:C:T p.(Gly605=) NC_000010.11:98420086:C:T p.(Gly605=) NC_000010.11:98420086:C:T Identity +NM_000227.6:c.3693A>G NP_000218.3:p.Pro1231= NC_000018.10:23931144:A:G p.(Pro1231=) NC_000018.10:23931144:A:G p.(Pro1231=) NC_000018.10:23931144:A:G Identity +NM_001083961.2:c.3879C>T NP_001077430.1:p.Ala1293= NC_000019.10:36103706:C:T p.(Ala1293=) NC_000019.10:36103706:C:T p.(Ala1293=) NC_000019.10:36103706:C:T Identity +NM_017433.5:c.4371A>T NP_059129.3:p.Ser1457= NC_000010.11:26176777:A:T p.(Ser1457=) NC_000010.11:26176777:A:T p.(Ser1457=) NC_000010.11:26176777:A:T Identity +NM_001351059.2:c.1566G>A NP_001337988.1:p.Leu522= NC_000011.10:68050785:G:A p.(Leu522=) NC_000011.10:68050785:G:A p.(Leu522=) NC_000011.10:68050785:G:A Identity +NM_001084.5:c.1380C>T NP_001075.1:p.Tyr460= NC_000007.14:101210651:G:A p.(Tyr460=) NC_000007.14:101210651:G:A p.(Tyr460=) NC_000007.14:101210651:G:A Identity +NM_001377486.1:c.420A>G NP_001364415.1:p.Thr140= NC_000016.10:81362583:A:G p.(Thr140=) NC_000016.10:81362583:A:G p.(Thr140=) NC_000016.10:81362583:A:G Identity +NM_000094.4:c.4434C>T NP_000085.1:p.Pro1478= NC_000003.12:48583395:G:A p.(Pro1478=) NC_000003.12:48583395:G:A p.(Pro1478=) NC_000003.12:48583395:G:A Identity +NM_015909.4:c.3117A>G NP_056993.2:p.Gln1039= NC_000002.12:15396429:T:C p.(Gln1039=) NC_000002.12:15396429:T:C p.(Gln1039=) NC_000002.12:15396429:T:C Identity +NM_001371986.1:c.4176C>T NP_001358915.1:p.Ile1392= NC_000002.12:209888159:C:T p.(Ile1392=) NC_000002.12:209888159:C:T p.(Ile1392=) NC_000002.12:209888159:C:T Identity +NM_001171930.2:c.612G>C NP_001165401.1:p.Thr204= NC_000010.11:71566923:G:C p.(Thr204=) NC_000010.11:71566923:G:C p.(Thr204=) NC_000010.11:71566923:G:C Identity +NM_017890.5:c.10839T>G NP_060360.3:p.Pro3613= NC_000008.11:99854152:T:G p.(Pro3613=) NC_000008.11:99854152:T:G p.(Pro3613=) NC_000008.11:99854152:T:G Identity +NM_001308258.2:c.36G>A NP_001295187.1:p.Ser12= NC_000003.12:149129758:G:A p.(Ser12=) NC_000003.12:149129758:G:A p.(Ser12=) NC_000003.12:149129758:G:A Identity +NM_000275.3:c.2109T>C NP_000266.2:p.Tyr703= NC_000015.10:27871892:A:G p.(Tyr703=) NC_000015.10:27871892:A:G p.(Tyr703=) NC_000015.10:27871892:A:G Identity +NM_001044385.3:c.417A>G NP_001037850.1:p.Leu139= NC_000002.12:201632186:T:C p.(Leu139=) NC_000002.12:201632186:T:C p.(Leu139=) NC_000002.12:201632186:T:C Identity +NM_174916.3:c.3351G>A NP_777576.1:p.Ser1117= NC_000015.10:43007142:C:T p.(Ser1117=) NC_000015.10:43007142:C:T p.(Ser1117=) NC_000015.10:43007142:C:T Identity +NM_001286075.2:c.2478C>T NP_001273004.1:p.Asp826= NC_000016.10:28903137:C:T p.(Asp826=) NC_000016.10:28903137:C:T p.(Asp826=) NC_000016.10:28903137:C:T Identity +NM_014797.3:c.1884G>A NP_055612.2:p.Gly628= NC_000006.12:109466060:C:T p.(Gly628=) NC_000006.12:109466060:C:T p.(Gly628=) NC_000006.12:109466060:C:T Identity +NM_001083961.2:c.3411C>A NP_001077430.1:p.Gly1137= NC_000019.10:36103022:C:A p.(Gly1137=) NC_000019.10:36103022:C:A p.(Gly1137=) NC_000019.10:36103022:C:A Identity +NM_001029883.3:c.3390G>C NP_001025054.1:p.Leu1130= NC_000002.12:29070871:C:G p.(Leu1130=) NC_000002.12:29070871:C:G p.(Leu1130=) NC_000002.12:29070871:C:G Identity +NM_152443.3:c.765C>T NP_689656.2:p.Val255= NC_000014.9:67729296:C:T p.(Val255=) NC_000014.9:67729296:C:T p.(Val255=) NC_000014.9:67729296:C:T Identity +NM_015243.3:c.1831A>C NP_056058.2:p.Arg611= NC_000008.11:99143152:A:C p.(Arg611=) NC_000008.11:99143152:A:C p.(Arg611=) NC_000008.11:99143152:A:C Identity +NM_001018037.2:c.4725G>A NP_001018047.1:p.Lys1575= NC_000009.12:77316384:G:A p.(Lys1575=) NC_000009.12:77316384:G:A p.(Lys1575=) NC_000009.12:77316384:G:A Identity +NM_001289905.2:c.1449C>T NP_001276834.1:p.Phe483= NC_000022.11:17108769:C:T p.(Phe483=) NC_000022.11:17108769:C:T p.(Phe483=) NC_000022.11:17108769:C:T Identity +NM_001145472.3:c.168C>T NP_001138944.1:p.Ala56= NC_000018.10:46546907:G:A p.(Ala56=) NC_000018.10:46546907:G:A p.(Ala56=) NC_000018.10:46546907:G:A Identity +NM_133497.4:c.1620C>T NP_598004.1:p.Thr540= NC_000009.12:2729708:C:T p.(Thr540=) NC_000009.12:2729708:C:T p.(Thr540=) NC_000009.12:2729708:C:T Identity +NM_004629.2:c.915G>A NP_004620.1:p.Leu305= NC_000009.12:35076732:C:T p.(Leu305=) NC_000009.12:35076732:C:T p.(Leu305=) NC_000009.12:35076732:C:T Identity +NM_001308258.2:c.180G>T NP_001295187.1:p.Thr60= NC_000003.12:149129902:G:T p.(Thr60=) NC_000003.12:149129902:G:T p.(Thr60=) NC_000003.12:149129902:G:T Identity +NM_001127505.3:c.1092C>T NP_001120977.1:p.Tyr364= NC_000008.11:18057611:G:A p.(Tyr364=) NC_000008.11:18057611:G:A p.(Tyr364=) NC_000008.11:18057611:G:A Identity +NM_001079911.3:c.762G>A NP_001073380.1:p.Lys254= NC_000004.12:87662587:G:A p.(Lys254=) NC_000004.12:87662587:G:A p.(Lys254=) NC_000004.12:87662587:G:A Identity +NM_001293273.2:c.1821G>C NP_001280202.1:p.Ser607= NC_000003.12:183015443:C:G p.(Ser607=) NC_000003.12:183015443:C:G p.(Ser607=) NC_000003.12:183015443:C:G Identity +NM_001040113.2:c.4149G>T NP_001035202.1:p.Ser1383= NC_000016.10:15724397:C:A p.(Ser1383=) NC_000016.10:15724397:C:A p.(Ser1383=) NC_000016.10:15724397:C:A Identity +NM_017890.5:c.3597A>C NP_060360.3:p.Thr1199= NC_000008.11:99467564:A:C p.(Thr1199=) NC_000008.11:99467564:A:C p.(Thr1199=) NC_000008.11:99467564:A:C Identity +NM_000091.5:c.2145T>C NP_000082.2:p.Gly715= NC_000002.12:227279811:T:C p.(Gly715=) NC_000002.12:227279811:T:C p.(Gly715=) NC_000002.12:227279811:T:C Identity +NM_015346.4:c.2454C>T NP_056161.2:p.His818= NC_000014.9:67793706:G:A p.(His818=) NC_000014.9:67793706:G:A p.(His818=) NC_000014.9:67793706:G:A Identity +NM_000802.3:c.570T>C NP_000793.1:p.Asn190= NC_000011.10:72195972:T:C p.(Asn190=) NC_000011.10:72195972:T:C p.(Asn190=) NC_000011.10:72195972:T:C Identity +NM_000091.5:c.2085A>C NP_000082.2:p.Gly695= NC_000002.12:227277512:A:C p.(Gly695=) NC_000002.12:227277512:A:C p.(Gly695=) NC_000002.12:227277512:A:C Identity +NM_000091.5:c.4110G>A NP_000082.2:p.Gly1370= NC_000002.12:227304100:G:A p.(Gly1370=) NC_000002.12:227304100:G:A p.(Gly1370=) NC_000002.12:227304100:G:A Identity +NM_000824.5:c.600A>G NP_000815.1:p.Gln200= NC_000004.12:157136875:A:G p.(Gln200=) NC_000004.12:157136875:A:G p.(Gln200=) NC_000004.12:157136875:A:G Identity +NM_001363746.1:c.630G>A NP_001350675.1:p.Arg210= NC_000009.12:136198763:C:T p.(Arg210=) NC_000009.12:136198763:C:T p.(Arg210=) NC_000009.12:136198763:C:T Identity +NM_000271.5:c.1872T>C NP_000262.2:p.Val624= NC_000018.10:23545034:A:G p.(Val624=) NC_000018.10:23545034:A:G p.(Val624=) NC_000018.10:23545034:A:G Identity +NM_017890.5:c.5460C>T NP_060360.3:p.Ala1820= NC_000008.11:99641974:C:T p.(Ala1820=) NC_000008.11:99641974:C:T p.(Ala1820=) NC_000008.11:99641974:C:T Identity +NM_001083885.3:c.1128T>G NP_001077354.2:p.Thr376= NC_000009.12:114404036:A:C p.(Thr376=) NC_000009.12:114404036:A:C p.(Thr376=) NC_000009.12:114404036:A:C Identity +NM_000466.3:c.1719C>T NP_000457.1:p.Ser573= NC_000007.14:92507077:G:A p.(Ser573=) NC_000007.14:92507077:G:A p.(Ser573=) NC_000007.14:92507077:G:A Identity +NM_001127505.3:c.237A>G NP_001120977.1:p.Leu79= NC_000008.11:18071347:T:C p.(Leu79=) NC_000008.11:18071347:T:C p.(Leu79=) NC_000008.11:18071347:T:C Identity +NM_001201543.2:c.1131G>A NP_001188472.1:p.Glu377= NC_000002.12:61839872:C:T p.(Glu377=) NC_000002.12:61839872:C:T p.(Glu377=) NC_000002.12:61839872:C:T Identity +NM_000466.3:c.1930C>T NP_000457.1:p.Leu644= NC_000007.14:92504872:G:A p.(Leu644=) NC_000007.14:92504872:G:A p.(Leu644=) NC_000007.14:92504872:G:A Identity +NM_001142800.2:c.3399T>C NP_001136272.1:p.Asn1133= NC_000006.12:64813421:A:G p.(Asn1133=) NC_000006.12:64813421:A:G p.(Asn1133=) NC_000006.12:64813421:A:G Identity +NM_001271933.2:c.2622T>C NP_001258862.1:p.Ala874= NC_000011.10:117393122:T:C p.(Ala874=) NC_000011.10:117393122:T:C p.(Ala874=) NC_000011.10:117393122:T:C Identity +NM_001145472.3:c.394C>A NP_001138944.1:p.Arg132= NC_000018.10:46542747:G:T p.(Arg132=) NC_000018.10:46542747:G:T p.(Arg132=) NC_000018.10:46542747:G:T Identity +NM_002900.3:c.1623C>T NP_002891.1:p.Thr541= NC_000010.11:47350106:C:T p.(Thr541=) NC_000010.11:47350106:C:T p.(Thr541=) NC_000010.11:47350106:C:T Identity +NM_015346.4:c.78G>A NP_056161.2:p.Arg26= NC_000014.9:67815885:C:T p.(Arg26=) NC_000014.9:67815885:C:T p.(Arg26=) NC_000014.9:67815885:C:T Identity +NM_001135242.2:c.342C>T NP_001128714.1:p.Ser114= NC_000008.11:133259214:G:A p.(Ser114=) NC_000008.11:133259214:G:A p.(Ser114=) NC_000008.11:133259214:G:A Identity +NM_001312673.2:c.456G>A NP_001299602.1:p.Thr152= NC_000003.12:196247396:C:T p.(Thr152=) NC_000003.12:196247396:C:T p.(Thr152=) NC_000003.12:196247396:C:T Identity +NM_015909.4:c.6888T>C NP_056993.2:p.Asp2296= NC_000002.12:15167275:A:G p.(Asp2296=) NC_000002.12:15167275:A:G p.(Asp2296=) NC_000002.12:15167275:A:G Identity +NM_022124.6:c.4924C>T NP_071407.4:p.Leu1642= NC_000010.11:71777757:C:T p.(Leu1642=) NC_000010.11:71777757:C:T p.(Leu1642=) NC_000010.11:71777757:C:T Identity +NM_001161529.2:c.183C>T NP_001155001.1:p.Phe61= NC_000024.10:1285883:C:T p.(Phe61=) NC_000023.11:1285883:C:T p.(Phe61=) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Identity +NM_000030.3:c.850C>T NP_000021.1:p.Leu284= NC_000002.12:240877539:C:T p.(Leu284=) NC_000002.12:240877539:C:T p.(Leu284=) NC_000002.12:240877539:C:T Identity +NM_020461.4:c.4785C>T NP_065194.3:p.Ala1595= NC_000022.11:50218738:G:A p.(Ala1595=) NC_000022.11:50218738:G:A p.(Ala1595=) NC_000022.11:50218738:G:A Identity +NM_001171930.2:c.193C>T NP_001165401.1:p.Leu65= NC_000010.11:71510128:C:T p.(Leu65=) NC_000010.11:71510128:C:T p.(Leu65=) NC_000010.11:71510128:C:T Identity +NM_007123.6:c.2181T>C NP_009054.6:p.Asp727= NC_000001.11:216247212:A:G p.(Asp727=) NC_000001.11:216247212:A:G p.(Asp727=) NC_000001.11:216247212:A:G Identity +NM_001039141.3:c.3441T>C NP_001034230.1:p.Leu1147= NC_000022.11:37725996:T:C p.(Leu1147=) NC_000022.11:37725996:T:C p.(Leu1147=) NC_000022.11:37725996:T:C Identity +NM_001142800.2:c.6060C>T NP_001136272.1:p.Asp2020= NC_000006.12:64388707:G:A p.(Asp2020=) NC_000006.12:64388707:G:A p.(Asp2020=) NC_000006.12:64388707:G:A Identity +NM_001017420.3:c.1119C>T NP_001017420.1:p.Asp373= NC_000008.11:27787989:C:T p.(Asp373=) NC_000008.11:27787989:C:T p.(Asp373=) NC_000008.11:27787989:C:T Identity +NM_005876.5:c.6771C>T NP_005867.3:p.His2257= NC_000002.12:219484233:C:T p.(His2257=) NC_000002.12:219484233:C:T p.(His2257=) NC_000002.12:219484233:C:T Identity +NM_001278055.2:c.9723G>A NP_001264984.1:p.Leu3241= NC_000013.11:23333711:C:T p.(Leu3241=) NC_000013.11:23333711:C:T p.(Leu3241=) NC_000013.11:23333711:C:T Identity +NM_001127649.3:c.39G>A NP_001121121.1:p.Arg13= NC_000022.11:18078414:G:A p.(Arg13=) NC_000022.11:18078414:G:A p.(Arg13=) NC_000022.11:18078414:G:A Identity +NM_004629.2:c.1665T>G NP_004620.1:p.Leu555= NC_000009.12:35074465:A:C p.(Leu555=) NC_000009.12:35074465:A:C p.(Leu555=) NC_000009.12:35074465:A:C Identity +NM_000352.6:c.2376C>G NP_000343.2:p.Pro792= NC_000011.10:17414525:G:C p.(Pro792=) NC_000011.10:17414525:G:C p.(Pro792=) NC_000011.10:17414525:G:C Identity +NM_006612.6:c.849G>A NP_006603.2:p.Ser283= NC_000017.11:5003900:G:A p.(Ser283=) NC_000017.11:5003900:G:A p.(Ser283=) NC_000017.11:5003900:G:A Identity +NM_001293273.2:c.963C>T NP_001280202.1:p.Val321= NC_000003.12:183039088:G:A p.(Val321=) NC_000003.12:183039088:G:A p.(Val321=) NC_000003.12:183039088:G:A Identity +NM_000288.4:c.324A>G NP_000279.1:p.Lys108= NC_000006.12:136826453:A:G p.(Lys108=) NC_000006.12:136826453:A:G p.(Lys108=) NC_000006.12:136826453:A:G Identity +NM_133259.4:c.118C>T NP_573566.2:p.Leu40= NC_000002.12:43995829:G:A p.(Leu40=) NC_000002.12:43995829:G:A p.(Leu40=) NC_000002.12:43995829:G:A Identity +NM_001384732.1:c.4428G>A NP_001371661.1:p.Thr1476= NC_000005.10:37184840:C:T p.(Thr1476=) NC_000005.10:37184840:C:T p.(Thr1476=) NC_000005.10:37184840:C:T Identity +NM_001282782.2:c.552A>C NP_001269711.1:p.Pro184= NC_000022.11:46355463:A:C p.(Pro184=) NC_000022.11:46355463:A:C p.(Pro184=) NC_000022.11:46355463:A:C Identity +NM_000253.4:c.1497C>T NP_000244.2:p.Pro499= NC_000004.12:99606899:C:T p.(Pro499=) NC_000004.12:99606899:C:T p.(Pro499=) NC_000004.12:99606899:C:T Identity +NM_014844.5:c.4227G>A NP_055659.2:p.Glu1409= NC_000014.9:102498247:G:A p.(Glu1409=) NC_000014.9:102498247:G:A p.(Glu1409=) NC_000014.9:102498247:G:A Identity +NM_001281737.2:c.270A>C NP_001268666.1:p.Pro90= NC_000004.12:158684596:A:C p.(Pro90=) NC_000004.12:158684596:A:C p.(Pro90=) NC_000004.12:158684596:A:C Identity +NM_007123.6:c.312C>A NP_009054.6:p.Gly104= NC_000001.11:216422024:G:T p.(Gly104=) NC_000001.11:216422024:G:T p.(Gly104=) NC_000001.11:216422024:G:T Identity +NM_001127649.3:c.312C>T NP_001121121.1:p.Ser104= NC_000022.11:18079954:C:T p.(Ser104=) NC_000022.11:18079954:C:T p.(Ser104=) NC_000022.11:18079954:C:T Identity +NM_016239.4:c.2409G>C NP_057323.3:p.Thr803= NC_000017.11:18121208:G:C p.(Thr803=) NC_000017.11:18121208:G:C p.(Thr803=) NC_000017.11:18121208:G:C Identity +NM_001172574.2:c.1344T>A NP_001166045.2:p.Ser448= NC_000008.11:6445065:T:A p.(Ser448=) NC_000008.11:6445065:T:A p.(Ser448=) NC_000008.11:6445065:T:A Identity +NM_001079515.3:c.1534T>C NP_001072983.1:p.Leu512= NC_000001.11:235448711:T:C p.(Leu512=) NC_000001.11:235448711:T:C p.(Leu512=) NC_000001.11:235448711:T:C Identity +NM_032119.4:c.8844A>G NP_115495.3:p.Ala2948= NC_000005.10:90710999:A:G p.(Ala2948=) NC_000005.10:90710999:A:G p.(Ala2948=) NC_000005.10:90710999:A:G Identity +NM_001122769.3:c.834A>G NP_001116241.1:p.Val278= NC_000006.12:79493636:T:C p.(Val278=) NC_000006.12:79493636:T:C p.(Val278=) NC_000006.12:79493636:T:C Identity +NM_001363850.1:c.1053C>G NP_001350779.1:p.Pro351= NC_000016.10:89531968:C:G p.(Pro351=) NC_000016.10:89531968:C:G p.(Pro351=) NC_000016.10:89531968:C:G Identity +NM_001308258.2:c.870C>T NP_001295187.1:p.Ala290= NC_000003.12:149153612:C:T p.(Ala290=) NC_000003.12:149153612:C:T p.(Ala290=) NC_000003.12:149153612:C:T Identity +NM_001145472.3:c.1182G>A NP_001138944.1:p.Lys394= NC_000018.10:46529191:C:T p.(Lys394=) NC_000018.10:46529191:C:T p.(Lys394=) NC_000018.10:46529191:C:T Identity +NM_001371986.1:c.2874C>T NP_001358915.1:p.Ala958= NC_000002.12:209834099:C:T p.(Ala958=) NC_000002.12:209834099:C:T p.(Ala958=) NC_000002.12:209834099:C:T Identity +NM_000275.3:c.99C>T NP_000266.2:p.Ala33= NC_000015.10:28081775:G:A p.(Ala33=) NC_000015.10:28081775:G:A p.(Ala33=) NC_000015.10:28081775:G:A Identity +NM_001040113.2:c.4332C>T NP_001035202.1:p.Asp1444= NC_000016.10:15724214:G:A p.(Asp1444=) NC_000016.10:15724214:G:A p.(Asp1444=) NC_000016.10:15724214:G:A Identity +NM_000466.3:c.3195G>T NP_000457.1:p.Ser1065= NC_000007.14:92492964:C:A p.(Ser1065=) NC_000007.14:92492964:C:A p.(Ser1065=) NC_000007.14:92492964:C:A Identity +NM_001351059.2:c.903G>A NP_001337988.1:p.Arg301= NC_000011.10:68049203:G:A p.(Arg301=) NC_000011.10:68049203:G:A p.(Arg301=) NC_000011.10:68049203:G:A Identity +NM_001375808.2:c.1854A>G NP_001362737.1:p.Thr618= NC_000018.10:2925307:T:C p.(Thr618=) NC_000018.10:2925307:T:C p.(Thr618=) NC_000018.10:2925307:T:C Identity +NM_000030.3:c.1026C>T NP_000021.1:p.His342= NC_000002.12:240878104:C:T p.(His342=) NC_000002.12:240878104:C:T p.(His342=) NC_000002.12:240878104:C:T Identity +NM_001145770.3:c.1566C>T NP_001139242.1:p.Ile522= NC_000016.10:57660777:C:T p.(Ile522=) NC_000016.10:57660777:C:T p.(Ile522=) NC_000016.10:57660777:C:T Identity +NM_001145770.3:c.864C>T NP_001139242.1:p.Leu288= NC_000016.10:57655493:C:T p.(Leu288=) NC_000016.10:57655493:C:T p.(Leu288=) NC_000016.10:57655493:C:T Identity +NM_000091.5:c.3600T>C NP_000082.2:p.Pro1200= NC_000002.12:227297707:T:C p.(Pro1200=) NC_000002.12:227297707:T:C p.(Pro1200=) NC_000002.12:227297707:T:C Identity +NM_001042385.2:c.765C>T NP_001035844.1:p.Phe255= NC_000002.12:44339350:G:A p.(Phe255=) NC_000002.12:44339350:G:A p.(Phe255=) NC_000002.12:44339350:G:A Identity +NM_001313915.2:c.1050C>T NP_001300844.1:p.Leu350= NC_000002.12:88585987:G:A p.(Leu350=) NC_000002.12:88585987:G:A p.(Leu350=) NC_000002.12:88585987:G:A Identity +NM_001414.4:c.903C>T NP_001405.1:p.Ile301= NC_000012.12:123621770:G:A p.(Ile301=) NC_000012.12:123621770:G:A p.(Ile301=) NC_000012.12:123621770:G:A Identity +NM_001004334.4:c.1152G>T NP_001004334.3:p.Val384= NC_000017.11:38337052:C:A p.(Val384=) NC_000017.11:38337052:C:A p.(Val384=) NC_000017.11:38337052:C:A Identity +NM_001130067.2:c.1362C>A NP_001123539.1:p.Pro454= NC_000004.12:153295968:C:A p.(Pro454=) NC_000004.12:153295968:C:A p.(Pro454=) NC_000004.12:153295968:C:A Identity +NM_000255.4:c.78G>A NP_000246.2:p.Arg26= NC_000006.12:49459388:C:T p.(Arg26=) NC_000006.12:49459388:C:T p.(Arg26=) NC_000006.12:49459388:C:T Identity +NM_014797.3:c.1722C>T NP_055612.2:p.Ser574= NC_000006.12:109466222:G:A p.(Ser574=) NC_000006.12:109466222:G:A p.(Ser574=) NC_000006.12:109466222:G:A Identity +NM_001291593.2:c.714C>G NP_001278522.1:p.Val238= NC_000001.11:5890918:G:C p.(Val238=) NC_000001.11:5890918:G:C p.(Val238=) NC_000001.11:5890918:G:C Identity +NM_001031679.3:c.222T>C NP_001026849.1:p.Pro74= NC_000012.12:65328561:T:C p.(Pro74=) NC_000012.12:65328561:T:C p.(Pro74=) NC_000012.12:65328561:T:C Identity +NM_000352.6:c.1470G>A NP_000343.2:p.Glu490= NC_000011.10:17442879:C:T p.(Glu490=) NC_000011.10:17442879:C:T p.(Glu490=) NC_000011.10:17442879:C:T Identity +NM_000060.4:c.399G>T NP_000051.1:p.Pro133= NC_000003.12:15641996:G:T ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_001004426.3:c.1179C>T NP_001004426.1:p.Ile393= NC_000022.11:38129460:G:A p.(Ile393=) NC_000022.11:38129460:G:A p.(Ile393=) NC_000022.11:38129460:G:A Identity +NM_004646.4:c.1860C>T NP_004637.1:p.Arg620= NC_000019.10:35845437:G:A p.(Arg620=) NC_000019.10:35845437:G:A p.(Arg620=) NC_000019.10:35845437:G:A Identity +NM_001354727.2:c.48G>A NP_001341656.1:p.Leu16= NC_000003.12:14178520:C:T p.(Leu16=) NC_000003.12:14178520:C:T p.(Leu16=) NC_000003.12:14178520:C:T Identity +NM_001318785.2:c.36G>C NP_001305714.1:p.Leu12= NC_000006.12:87541968:C:G p.(Leu12=) NC_000006.12:87541968:C:G p.(Leu12=) NC_000006.12:87541968:C:G Identity +NM_001206855.3:c.1767G>C NP_001193784.1:p.Gly589= NC_000007.14:100620982:C:G p.(Gly589=) NC_000007.14:100620982:C:G p.(Gly589=) NC_000007.14:100620982:C:G Identity +NM_000271.5:c.2331C>G NP_000262.2:p.Thr777= NC_000018.10:23541347:G:C p.(Thr777=) NC_000018.10:23541347:G:C p.(Thr777=) NC_000018.10:23541347:G:C Identity +NM_001029883.3:c.667C>T NP_001025054.1:p.Leu223= NC_000002.12:29073594:G:A p.(Leu223=) NC_000002.12:29073594:G:A p.(Leu223=) NC_000002.12:29073594:G:A Identity +NM_001018037.2:c.9405C>G NP_001018047.1:p.Leu3135= NC_000009.12:77416002:C:G p.(Leu3135=) NC_000009.12:77416002:C:G p.(Leu3135=) NC_000009.12:77416002:C:G Identity +NM_000487.6:c.147C>T NP_000478.3:p.Pro49= NC_000022.11:50627632:G:A p.(Pro49=) NC_000022.11:50627632:G:A p.(Pro49=) NC_000022.11:50627632:G:A Identity +NM_001172631.3:c.3708A>T NP_001166102.1:p.Gly1236= NC_000014.9:102465207:A:T p.(Gly1236=) NC_000014.9:102465207:A:T p.(Gly1236=) NC_000014.9:102465207:A:T Identity +NM_000277.3:c.309T>G NP_000268.1:p.Gly103= NC_000012.12:102894777:A:C p.(Gly103=) NC_000012.12:102894777:A:C p.(Gly103=) NC_000012.12:102894777:A:C Identity +NM_001042692.3:c.573C>T NP_001036157.1:p.Asp191= NC_000002.12:63404432:G:A p.(Asp191=) NC_000002.12:63404432:G:A p.(Asp191=) NC_000002.12:63404432:G:A Identity +NM_014639.4:c.4491G>A NP_055454.1:p.Gly1497= NC_000005.10:95469784:C:T p.(Gly1497=) NC_000005.10:95469784:C:T p.(Gly1497=) NC_000005.10:95469784:C:T Identity +NM_000094.4:c.276C>T NP_000085.1:p.Phe92= NC_000003.12:48593686:G:A p.(Phe92=) NC_000003.12:48593686:G:A p.(Phe92=) NC_000003.12:48593686:G:A Identity +NM_001278055.2:c.11130G>A NP_001264984.1:p.Leu3710= NC_000013.11:23332304:C:T p.(Leu3710=) NC_000013.11:23332304:C:T p.(Leu3710=) NC_000013.11:23332304:C:T Identity +NM_001142763.2:c.5244T>C NP_001136235.1:p.Ser1748= NC_000010.11:53822502:A:G p.(Ser1748=) NC_000010.11:53822502:A:G p.(Ser1748=) NC_000010.11:53822502:A:G Identity +NM_004629.2:c.747C>T NP_004620.1:p.Tyr249= NC_000009.12:35077000:G:A p.(Tyr249=) NC_000009.12:35077000:G:A p.(Tyr249=) NC_000009.12:35077000:G:A Identity +NM_000352.6:c.222G>A NP_000343.2:p.Arg74= NC_000011.10:17474953:C:T p.(Arg74=) NC_000011.10:17474953:C:T p.(Arg74=) NC_000011.10:17474953:C:T Identity +NM_021922.3:c.1023C>T NP_068741.1:p.Leu341= NC_000006.12:35458349:C:T p.(Leu341=) NC_000006.12:35458349:C:T p.(Leu341=) NC_000006.12:35458349:C:T Identity +NM_006019.4:c.201C>T NP_006010.2:p.Phe67= NC_000011.10:68042646:C:T p.(Phe67=) NC_000011.10:68042646:C:T p.(Phe67=) NC_000011.10:68042646:C:T Identity +NM_001172435.2:c.667T>C NP_001165906.1:p.Leu223= NC_000002.12:135120836:T:C p.(Leu223=) NC_000002.12:135120836:T:C p.(Leu223=) NC_000002.12:135120836:T:C Identity +NM_001018037.2:c.9114C>G NP_001018047.1:p.Thr3038= NC_000009.12:77403276:C:G p.(Thr3038=) NC_000009.12:77403276:C:G p.(Thr3038=) NC_000009.12:77403276:C:G Identity +NM_001371986.1:c.7413G>A NP_001358915.1:p.Ala2471= NC_000002.12:209954225:G:A p.(Ala2471=) NC_000002.12:209954225:G:A p.(Ala2471=) NC_000002.12:209954225:G:A Identity +NM_001257096.2:c.273C>A NP_001244025.1:p.Gly91= NC_000020.11:21705984:C:A p.(Gly91=) NC_000020.11:21705984:C:A p.(Gly91=) NC_000020.11:21705984:C:A Identity +NM_001042437.2:c.228T>C NP_001035902.1:p.Tyr76= NC_000002.12:85861201:A:G p.(Tyr76=) NC_000002.12:85861201:A:G p.(Tyr76=) NC_000002.12:85861201:A:G Identity +NM_000466.3:c.3771T>C NP_000457.1:p.Tyr1257= NC_000007.14:92487537:A:G p.(Tyr1257=) NC_000007.14:92487537:A:G p.(Tyr1257=) NC_000007.14:92487537:A:G Identity +NM_001308258.2:c.624T>C NP_001295187.1:p.Ser208= NC_000003.12:149145501:T:C p.(Ser208=) NC_000003.12:149145501:T:C p.(Ser208=) NC_000003.12:149145501:T:C Identity +NM_000253.4:c.1098T>C NP_000244.2:p.Ala366= NC_000004.12:99600594:T:C p.(Ala366=) NC_000004.12:99600594:T:C p.(Ala366=) NC_000004.12:99600594:T:C Identity +NM_001127505.3:c.501T>C NP_001120977.1:p.Asn167= NC_000008.11:18062407:A:G p.(Asn167=) NC_000008.11:18062407:A:G p.(Asn167=) NC_000008.11:18062407:A:G Identity +NM_017890.5:c.4383C>T NP_060360.3:p.Val1461= NC_000008.11:99511186:C:T p.(Val1461=) NC_000008.11:99511186:C:T p.(Val1461=) NC_000008.11:99511186:C:T Identity +NM_005876.5:c.6045G>T NP_005867.3:p.Ser2015= NC_000002.12:219483507:G:T p.(Ser2015=) NC_000002.12:219483507:G:T p.(Ser2015=) NC_000002.12:219483507:G:T Identity +NM_000071.3:c.84G>A NP_000062.1:p.Leu28= NC_000021.9:43072109:C:T p.(Leu28=) NC_000021.9:43072109:C:T p.(Leu28=) NC_000021.9:43072109:C:T Identity +NM_003784.4:c.936G>T NP_003775.1:p.Ser312= NC_000018.10:63804427:G:T p.(Ser312=) NC_000018.10:63804427:G:T p.(Ser312=) NC_000018.10:63804427:G:T Identity +NM_001166102.2:c.726C>T NP_001159574.1:p.Ser242= NC_000011.10:67611046:C:T p.(Ser242=) NC_000011.10:67611046:C:T p.(Ser242=) NC_000011.10:67611046:C:T Identity +NM_001080976.3:c.981G>A NP_001074445.1:p.Val327= NC_000006.12:116433412:G:A p.(Val327=) NC_000006.12:116433412:G:A p.(Val327=) NC_000006.12:116433412:G:A Identity +NM_001206855.3:c.93C>T NP_001193784.1:p.Phe31= NC_000007.14:100633423:G:A p.(Phe31=) NC_000007.14:100633423:G:A p.(Phe31=) NC_000007.14:100633423:G:A Identity +NM_000227.6:c.4485G>T NP_000218.3:p.Ala1495= NC_000018.10:23946244:G:T p.(Ala1495=) NC_000018.10:23946244:G:T p.(Ala1495=) NC_000018.10:23946244:G:T Identity +NM_032119.4:c.8997G>A NP_115495.3:p.Gln2999= NC_000005.10:90711276:G:A p.(Gln2999=) NC_000005.10:90711276:G:A p.(Gln2999=) NC_000005.10:90711276:G:A Identity +NM_001278055.2:c.2406C>T NP_001264984.1:p.Val802= NC_000013.11:23341028:G:A p.(Val802=) NC_000013.11:23341028:G:A p.(Val802=) NC_000013.11:23341028:G:A Identity +NM_001377948.1:c.1584T>C NP_001364877.1:p.Leu528= NC_000014.9:21326120:T:C p.(Leu528=) NC_000014.9:21326120:T:C p.(Leu528=) NC_000014.9:21326120:T:C Identity +NM_004565.3:c.99G>C NP_004556.1:p.Val33= NC_000001.11:10536226:G:C p.(Val33=) NC_000001.11:10536226:G:C p.(Val33=) NC_000001.11:10536226:G:C Identity +NM_001178007.2:c.1812T>C NP_001171478.1:p.Tyr604= NC_000004.12:122743703:T:C p.(Tyr604=) NC_000004.12:122743703:T:C p.(Tyr604=) NC_000004.12:122743703:T:C Identity +NM_001142763.2:c.2376T>C NP_001136235.1:p.Leu792= NC_000010.11:54023056:A:G p.(Leu792=) NC_000010.11:54023056:A:G p.(Leu792=) NC_000010.11:54023056:A:G Identity +NM_004525.3:c.13875T>G NP_004516.2:p.Pro4625= NC_000002.12:169128755:A:C p.(Pro4625=) NC_000002.12:169128755:A:C p.(Pro4625=) NC_000002.12:169128755:A:C Identity +NM_001354726.2:c.589A>C NP_001341655.1:p.Arg197= NC_000003.12:14158714:T:G p.(Arg197=) NC_000003.12:14158714:T:G p.(Arg197=) NC_000003.12:14158714:T:G Identity +NM_001143990.2:c.912C>T NP_001137462.1:p.Ser304= NC_000017.11:7701745:C:T p.(Ser304=) NC_000017.11:7701745:C:T p.(Ser304=) NC_000017.11:7701745:C:T Identity +NM_020461.4:c.288G>A NP_065194.3:p.Leu96= NC_000022.11:50244171:C:T p.(Leu96=) NC_000022.11:50244171:C:T p.(Leu96=) NC_000022.11:50244171:C:T Identity +NM_001371986.1:c.8109G>T NP_001358915.1:p.Leu2703= NC_000002.12:209969869:G:T p.(Leu2703=) NC_000002.12:209969869:G:T p.(Leu2703=) NC_000002.12:209969869:G:T Identity +NM_032040.5:c.1608C>T NP_114429.2:p.Asp536= NC_000019.10:46411202:G:A p.(Asp536=) NC_000019.10:46411202:G:A p.(Asp536=) NC_000019.10:46411202:G:A Identity +NM_021922.3:c.327G>C NP_068741.1:p.Leu109= NC_000006.12:35455824:G:C p.(Leu109=) NC_000006.12:35455824:G:C p.(Leu109=) NC_000006.12:35455824:G:C Identity +NM_000339.3:c.1005T>C NP_000330.3:p.Gly335= NC_000016.10:56872695:T:C p.(Gly335=) NC_000016.10:56872695:T:C p.(Gly335=) NC_000016.10:56872695:T:C Identity +NM_001098802.3:c.705T>C NP_001092272.1:p.Asn235= NC_000009.12:78243562:T:C p.(Asn235=) NC_000009.12:78243562:T:C p.(Asn235=) NC_000009.12:78243562:T:C Identity +NM_000352.6:c.204C>T NP_000343.2:p.Phe68= NC_000011.10:17474971:G:A p.(Phe68=) NC_000011.10:17474971:G:A p.(Phe68=) NC_000011.10:17474971:G:A Identity +NM_001171930.2:c.1138T>C NP_001165401.1:p.Leu380= NC_000010.11:71643863:T:C p.(Leu380=) NC_000010.11:71643863:T:C p.(Leu380=) NC_000010.11:71643863:T:C Identity +NM_000492.4:c.2307C>G NP_000483.3:p.Val769= NC_000007.14:117592473:C:G p.(Val769=) NC_000007.14:117592473:C:G p.(Val769=) NC_000007.14:117592473:C:G Identity +NM_001080467.3:c.651C>T NP_001073936.1:p.Ser217= NC_000018.10:49992392:G:A p.(Ser217=) NC_000018.10:49992392:G:A p.(Ser217=) NC_000018.10:49992392:G:A Identity +NM_004525.3:c.10206G>T NP_004516.2:p.Val3402= NC_000002.12:169177989:C:A p.(Val3402=) NC_000002.12:169177989:C:A p.(Val3402=) NC_000002.12:169177989:C:A Identity +NM_024306.5:c.675C>G NP_077282.3:p.Leu225= NC_000016.10:74719098:G:C p.(Leu225=) NC_000016.10:74719098:G:C p.(Leu225=) NC_000016.10:74719098:G:C Identity +NM_004525.3:c.10341A>C NP_004516.2:p.Thr3447= NC_000002.12:169177854:T:G p.(Thr3447=) NC_000002.12:169177854:T:G p.(Thr3447=) NC_000002.12:169177854:T:G Identity +NM_024753.5:c.3498T>C NP_079029.3:p.Ala1166= NC_000002.12:165883979:A:G p.(Ala1166=) NC_000002.12:165883979:A:G p.(Ala1166=) NC_000002.12:165883979:A:G Identity +NM_000271.5:c.477C>T NP_000262.2:p.Ala159= NC_000018.10:23561513:G:A p.(Ala159=) NC_000018.10:23561513:G:A p.(Ala159=) NC_000018.10:23561513:G:A Identity +NM_000159.4:c.138C>T NP_000150.1:p.Pro46= NC_000019.10:12891840:C:T p.(Pro46=) NC_000019.10:12891840:C:T p.(Pro46=) NC_000019.10:12891840:C:T Identity +NM_001308258.2:c.1425G>A NP_001295187.1:p.Lys475= NC_000003.12:149160092:G:A p.(Lys475=) NC_000003.12:149160092:G:A p.(Lys475=) NC_000003.12:149160092:G:A Identity +NM_001018037.2:c.8727C>T NP_001018047.1:p.Ala2909= NC_000009.12:77370514:C:T p.(Ala2909=) NC_000009.12:77370514:C:T p.(Ala2909=) NC_000009.12:77370514:C:T Identity +NM_015346.4:c.3801C>T NP_056161.2:p.Asp1267= NC_000014.9:67783350:G:A p.(Asp1267=) NC_000014.9:67783350:G:A p.(Asp1267=) NC_000014.9:67783350:G:A Identity +NM_001142800.2:c.8346T>C NP_001136272.1:p.Thr2782= NC_000006.12:63721684:A:G p.(Thr2782=) NC_000006.12:63721684:A:G p.(Thr2782=) NC_000006.12:63721684:A:G Identity +NM_017890.5:c.4722A>T NP_060360.3:p.Ala1574= NC_000008.11:99520911:A:T p.(Ala1574=) NC_000008.11:99520911:A:T p.(Ala1574=) NC_000008.11:99520911:A:T Identity +NM_001271999.2:c.5361A>G NP_001258928.1:p.Glu1787= NC_000001.11:62489038:T:C p.(Glu1787=) NC_000001.11:62489038:T:C p.(Glu1787=) NC_000001.11:62489038:T:C Identity +NM_001288781.1:c.1149G>C NP_001275710.1:p.Gly383= NC_000014.9:88871599:G:C p.(Gly383=) NC_000014.9:88871599:G:C p.(Gly383=) NC_000014.9:88871599:G:C Identity +NM_000479.5:c.1308G>A NP_000470.3:p.Val436= NC_000019.10:2251581:G:A p.(Val436=) NC_000019.10:2251581:G:A p.(Val436=) NC_000019.10:2251581:G:A Identity +NM_001130067.2:c.348C>T NP_001123539.1:p.Leu116= NC_000004.12:153276105:C:T p.(Leu116=) NC_000004.12:153276105:C:T p.(Leu116=) NC_000004.12:153276105:C:T Identity +NM_001127505.3:c.204T>A NP_001120977.1:p.Gly68= NC_000008.11:18071380:A:T p.(Gly68=) NC_000008.11:18071380:A:T p.(Gly68=) NC_000008.11:18071380:A:T Identity +NM_001384732.1:c.7719C>G NP_001371661.1:p.Leu2573= NC_000005.10:37158316:G:C p.(Leu2573=) NC_000005.10:37158316:G:C p.(Leu2573=) NC_000005.10:37158316:G:C Identity +NM_000195.5:c.1161C>T NP_000186.2:p.Pro387= NC_000010.11:98425714:G:A p.(Pro387=) NC_000010.11:98425714:G:A p.(Pro387=) NC_000010.11:98425714:G:A Identity +NM_000352.6:c.318G>A NP_000343.2:p.Leu106= NC_000011.10:17470194:C:T p.(Leu106=) NC_000011.10:17470194:C:T p.(Leu106=) NC_000011.10:17470194:C:T Identity +NM_001414.4:c.777C>T NP_001405.1:p.Val259= NC_000012.12:123621896:G:A p.(Val259=) NC_000012.12:123621896:G:A p.(Val259=) NC_000012.12:123621896:G:A Identity +NM_001128228.3:c.552T>A NP_001121700.2:p.Gly184= NC_000009.12:137200159:A:T p.(Gly184=) NC_000009.12:137200159:A:T p.(Gly184=) NC_000009.12:137200159:A:T Identity +NM_007123.6:c.4140C>T NP_009054.6:p.Ile1380= NC_000001.11:216196663:G:A p.(Ile1380=) NC_000001.11:216196663:G:A p.(Ile1380=) NC_000001.11:216196663:G:A Identity +NM_001080976.3:c.2358T>C NP_001074445.1:p.Thr786= NC_000006.12:116436825:T:C p.(Thr786=) NC_000006.12:116436825:T:C p.(Thr786=) NC_000006.12:116436825:T:C Identity +NM_004646.4:c.2536C>T NP_004637.1:p.Leu846= NC_000019.10:35842250:G:A p.(Leu846=) NC_000019.10:35842250:G:A p.(Leu846=) NC_000019.10:35842250:G:A Identity +NM_000094.4:c.2799G>A NP_000085.1:p.Arg933= NC_000003.12:48587850:C:T p.(Arg933=) NC_000003.12:48587850:C:T p.(Arg933=) NC_000003.12:48587850:C:T Identity +NM_000466.3:c.2793T>C NP_000457.1:p.Ala931= NC_000007.14:92494619:A:G p.(Ala931=) NC_000007.14:92494619:A:G p.(Ala931=) NC_000007.14:92494619:A:G Identity +NM_017890.5:c.6336T>C NP_060360.3:p.Gly2112= NC_000008.11:99699738:T:C p.(Gly2112=) NC_000008.11:99699738:T:C p.(Gly2112=) NC_000008.11:99699738:T:C Identity +NM_000227.6:c.3210C>T NP_000218.3:p.Asp1070= NC_000018.10:23921047:C:T p.(Asp1070=) NC_000018.10:23921047:C:T p.(Asp1070=) NC_000018.10:23921047:C:T Identity +NM_000277.3:c.756G>A NP_000268.1:p.Arg252= NC_000012.12:102852900:C:T p.(Arg252=) NC_000012.12:102852900:C:T p.(Arg252=) NC_000012.12:102852900:C:T Identity +NM_017890.5:c.2670G>A NP_060360.3:p.Lys890= NC_000008.11:99275099:G:A p.(Lys890=) NC_000008.11:99275099:G:A p.(Lys890=) NC_000008.11:99275099:G:A Identity +NM_000352.6:c.4224C>T NP_000343.2:p.Asp1408= NC_000011.10:17395692:G:A p.(Asp1408=) NC_000011.10:17395692:G:A p.(Asp1408=) NC_000011.10:17395692:G:A Identity +NM_001099679.2:c.153A>G NP_001093149.1:p.Leu51= NC_000009.12:116697894:A:G p.(Leu51=) NC_000009.12:116697894:A:G p.(Leu51=) NC_000009.12:116697894:A:G Identity +NM_207352.4:c.189G>A NP_997235.3:p.Ala63= NC_000004.12:186192011:G:A p.(Ala63=) NC_000004.12:186192011:G:A p.(Ala63=) NC_000004.12:186192011:G:A Identity +NM_001004334.4:c.4899A>G NP_001004334.3:p.Thr1633= NC_000017.11:38328669:T:C p.(Thr1633=) NC_000017.11:38328669:T:C p.(Thr1633=) NC_000017.11:38328669:T:C Identity +NM_001142763.2:c.2472C>T NP_001136235.1:p.Phe824= NC_000010.11:54022960:G:A p.(Phe824=) NC_000010.11:54022960:G:A p.(Phe824=) NC_000010.11:54022960:G:A Identity +NM_001278055.2:c.11604G>C NP_001264984.1:p.Leu3868= NC_000013.11:23331830:C:G p.(Leu3868=) NC_000013.11:23331830:C:G p.(Leu3868=) NC_000013.11:23331830:C:G Identity +NM_001145770.3:c.1536G>A NP_001139242.1:p.Lys512= NC_000016.10:57659661:G:A p.(Lys512=) NC_000016.10:57659661:G:A p.(Lys512=) NC_000016.10:57659661:G:A Identity +NM_001135242.2:c.162A>G NP_001128714.1:p.Gly54= NC_000008.11:133264589:T:C p.(Gly54=) NC_000008.11:133264589:T:C p.(Gly54=) NC_000008.11:133264589:T:C Identity +NM_001005207.5:c.1389A>G NP_001005207.1:p.Gln463= NC_000017.11:59049318:T:C p.(Gln463=) NC_000017.11:59049318:T:C p.(Gln463=) NC_000017.11:59049318:T:C Identity +NM_015909.4:c.1695G>A NP_056993.2:p.Ala565= NC_000002.12:15473251:C:T p.(Ala565=) NC_000002.12:15473251:C:T p.(Ala565=) NC_000002.12:15473251:C:T Identity +NM_001375291.1:c.3156C>T NP_001362220.1:p.His1052= NC_000009.12:95972906:C:T p.(His1052=) NC_000009.12:95972906:C:T p.(His1052=) NC_000009.12:95972906:C:T Identity +NM_024577.4:c.912G>A NP_078853.2:p.Gly304= NC_000005.10:149038383:C:T p.(Gly304=) NC_000005.10:149038383:C:T p.(Gly304=) NC_000005.10:149038383:C:T Identity +NM_000426.4:c.5532T>C NP_000417.3:p.Arg1844= NC_000006.12:129401309:T:C p.(Arg1844=) NC_000006.12:129401309:T:C p.(Arg1844=) NC_000006.12:129401309:T:C Identity +NM_000094.4:c.6099C>G NP_000085.1:p.Ala2033= NC_000003.12:48575419:G:C p.(Ala2033=) NC_000003.12:48575419:G:C p.(Ala2033=) NC_000003.12:48575419:G:C Identity +NM_000426.4:c.2013A>G NP_000417.3:p.Arg671= NC_000006.12:129252211:A:G p.(Arg671=) NC_000006.12:129252211:A:G p.(Arg671=) NC_000006.12:129252211:A:G Identity +NM_000227.6:c.4542C>T NP_000218.3:p.Ser1514= NC_000018.10:23949781:C:T p.(Ser1514=) NC_000018.10:23949781:C:T p.(Ser1514=) NC_000018.10:23949781:C:T Identity +NM_004553.6:c.258G>T NP_004544.1:p.Ala86= NC_000005.10:1814409:G:T p.(Ala86=) NC_000005.10:1814409:G:T p.(Ala86=) NC_000005.10:1814409:G:T Identity +NM_015909.4:c.813T>C NP_056993.2:p.Leu271= NC_000002.12:15511283:A:G p.(Leu271=) NC_000002.12:15511283:A:G p.(Leu271=) NC_000002.12:15511283:A:G Identity +NM_001286075.2:c.2493C>T NP_001273004.1:p.Ile831= NC_000016.10:28903327:C:T p.(Ile831=) NC_000016.10:28903327:C:T p.(Ile831=) NC_000016.10:28903327:C:T Identity +NM_003172.4:c.309C>T NP_003163.1:p.Val103= NC_000009.12:133354672:G:A p.(Val103=) NC_000009.12:133354672:G:A p.(Val103=) NC_000009.12:133354672:G:A Identity +NM_001291860.2:c.3099G>A NP_001278789.1:p.Leu1033= NC_000001.11:21875949:C:T p.(Leu1033=) NC_000001.11:21875949:C:T p.(Leu1033=) NC_000001.11:21875949:C:T Identity +NM_206933.4:c.5610G>C NP_996816.3:p.Arg1870= NC_000001.11:216073262:C:G p.(Arg1870=) NC_000001.11:216073262:C:G p.(Arg1870=) NC_000001.11:216073262:C:G Identity +NM_000271.5:c.1915T>C NP_000262.2:p.Leu639= NC_000018.10:23544991:A:G p.(Leu639=) NC_000018.10:23544991:A:G p.(Leu639=) NC_000018.10:23544991:A:G Identity +NM_000094.4:c.1296C>T NP_000085.1:p.Leu432= NC_000003.12:48591958:G:A p.(Leu432=) NC_000003.12:48591958:G:A p.(Leu432=) NC_000003.12:48591958:G:A Identity +NM_015346.4:c.763C>A NP_056161.2:p.Arg255= NC_000014.9:67807520:G:T p.(Arg255=) NC_000014.9:67807520:G:T p.(Arg255=) NC_000014.9:67807520:G:T Identity +NM_000135.4:c.1581C>T NP_000126.2:p.Asn527= NC_000016.10:89782903:G:A p.(Asn527=) NC_000016.10:89782903:G:A p.(Asn527=) NC_000016.10:89782903:G:A Identity +NM_001379352.1:c.621C>G NP_001366281.1:p.Pro207= NC_000001.11:146019210:G:C p.(Pro207=) NC_000001.11:146019210:G:C p.(Pro207=) NC_000001.11:146019210:G:C Identity +NM_001278055.2:c.8742C>T NP_001264984.1:p.Leu2914= NC_000013.11:23334692:G:A p.(Leu2914=) NC_000013.11:23334692:G:A p.(Leu2914=) NC_000013.11:23334692:G:A Identity +NM_206933.4:c.12183C>T NP_996816.3:p.Thr4061= NC_000001.11:215680259:G:A p.(Thr4061=) NC_000001.11:215680259:G:A p.(Thr4061=) NC_000001.11:215680259:G:A Identity +NM_001282782.2:c.327C>T NP_001269711.1:p.Phe109= NC_000022.11:46352137:C:T p.(Phe109=) NC_000022.11:46352137:C:T p.(Phe109=) NC_000022.11:46352137:C:T Identity +NM_000091.5:c.2004C>A NP_000082.2:p.Gly668= NC_000002.12:227276460:C:A p.(Gly668=) NC_000002.12:227276460:C:A p.(Gly668=) NC_000002.12:227276460:C:A Identity +NM_016955.4:c.411C>T NP_058651.3:p.Cys137= NC_000004.12:25156172:G:A p.(Cys137=) NC_000004.12:25156172:G:A p.(Cys137=) NC_000004.12:25156172:G:A Identity +NM_001135242.2:c.144G>C NP_001128714.1:p.Leu48= NC_000008.11:133264607:C:G p.(Leu48=) NC_000008.11:133264607:C:G p.(Leu48=) NC_000008.11:133264607:C:G Identity +NM_006261.5:c.130A>C NP_006252.4:p.Arg44= NC_000005.10:177994317:T:G p.(Arg44=) NC_000005.10:177994317:T:G p.(Arg44=) NC_000005.10:177994317:T:G Identity +NM_001384474.1:c.2985C>T NP_001371403.1:p.His995= NC_000018.10:46560158:G:A p.(His995=) NC_000018.10:46560158:G:A p.(His995=) NC_000018.10:46560158:G:A Identity +NM_017890.5:c.9315T>C NP_060360.3:p.Ile3105= NC_000008.11:99823887:T:C p.(Ile3105=) NC_000008.11:99823887:T:C p.(Ile3105=) NC_000008.11:99823887:T:C Identity +NM_001375808.2:c.1488C>T NP_001362737.1:p.His496= NC_000018.10:2929126:G:A p.(His496=) NC_000018.10:2929126:G:A p.(His496=) NC_000018.10:2929126:G:A Identity +NM_000492.4:c.3546C>T NP_000483.3:p.Tyr1182= NC_000007.14:117627598:C:T p.(Tyr1182=) NC_000007.14:117627598:C:T p.(Tyr1182=) NC_000007.14:117627598:C:T Identity +NM_000466.3:c.1989C>T NP_000457.1:p.Asp663= NC_000007.14:92504813:G:A p.(Asp663=) NC_000007.14:92504813:G:A p.(Asp663=) NC_000007.14:92504813:G:A Identity +NM_001371986.1:c.3168C>A NP_001358915.1:p.Ala1056= NC_000002.12:209839347:C:A p.(Ala1056=) NC_000002.12:209839347:C:A p.(Ala1056=) NC_000002.12:209839347:C:A Identity +NM_001201543.2:c.195C>T NP_001188472.1:p.Asn65= NC_000002.12:61842348:G:A p.(Asn65=) NC_000002.12:61842348:G:A p.(Asn65=) NC_000002.12:61842348:G:A Identity +NM_001189.4:c.720C>T NP_001180.1:p.Ala240= NC_000004.12:13542274:G:A p.(Ala240=) NC_000004.12:13542274:G:A p.(Ala240=) NC_000004.12:13542274:G:A Identity +NM_005562.3:c.3579G>A NP_005553.2:p.Gln1193= NC_000001.11:183243396:G:A p.(Gln1193=) NC_000001.11:183243396:G:A p.(Gln1193=) NC_000001.11:183243396:G:A Identity +NM_000275.3:c.69C>G NP_000266.2:p.Ser23= NC_000015.10:28081805:G:C p.(Ser23=) NC_000015.10:28081805:G:C p.(Ser23=) NC_000015.10:28081805:G:C Identity +NM_001376472.1:c.498C>T NP_001363401.1:p.Ser166= NC_000022.11:50077427:G:A p.(Ser166=) NC_000022.11:50077427:G:A p.(Ser166=) NC_000022.11:50077427:G:A Identity +NM_000732.6:c.255C>T NP_000723.1:p.Thr85= NC_000011.10:118340393:G:A p.(Thr85=) NC_000011.10:118340393:G:A p.(Thr85=) NC_000011.10:118340393:G:A Identity +NM_001172631.3:c.3360T>C NP_001166102.1:p.Ala1120= NC_000014.9:102450602:T:C p.(Ala1120=) NC_000014.9:102450602:T:C p.(Ala1120=) NC_000014.9:102450602:T:C Identity +NM_015346.4:c.2796G>A NP_056161.2:p.Leu932= NC_000014.9:67789557:C:T p.(Leu932=) NC_000014.9:67789557:C:T p.(Leu932=) NC_000014.9:67789557:C:T Identity +NM_000293.3:c.1977A>T NP_000284.1:p.Leu659= NC_000016.10:47660510:A:T p.(Leu659=) NC_000016.10:47660510:A:T p.(Leu659=) NC_000016.10:47660510:A:T Identity +NM_001178007.2:c.1264T>C NP_001171478.1:p.Leu422= NC_000004.12:122743155:T:C p.(Leu422=) NC_000004.12:122743155:T:C p.(Leu422=) NC_000004.12:122743155:T:C Identity +NM_001354045.2:c.66C>T NP_001340974.1:p.Leu22= NC_000002.12:63588205:G:A p.(Leu22=) NC_000002.12:63588205:G:A p.(Leu22=) NC_000002.12:63588205:G:A Identity +NM_001291593.2:c.942C>T NP_001278522.1:p.Asn314= NC_000001.11:5887289:G:A p.(Asn314=) NC_000001.11:5887289:G:A p.(Asn314=) NC_000001.11:5887289:G:A Identity +NM_001041.4:c.4404T>C NP_001032.2:p.His1468= NC_000003.12:165006817:A:G p.(His1468=) NC_000003.12:165006817:A:G p.(His1468=) NC_000003.12:165006817:A:G Identity +NM_001346083.2:c.1071A>T NP_001333012.1:p.Thr357= NC_000001.11:205061961:A:T p.(Thr357=) NC_000001.11:205061961:A:T p.(Thr357=) NC_000001.11:205061961:A:T Identity +NM_001291860.2:c.7506C>T NP_001278789.1:p.Tyr2502= NC_000001.11:21848974:G:A p.(Tyr2502=) NC_000001.11:21848974:G:A p.(Tyr2502=) NC_000001.11:21848974:G:A Identity +NM_030928.4:c.90C>G NP_112190.2:p.Pro30= NC_000016.10:88803920:C:G p.(Pro30=) NC_000016.10:88803920:C:G p.(Pro30=) NC_000016.10:88803920:C:G Identity +NM_001354726.2:c.156G>T NP_001341655.1:p.Leu52= NC_000003.12:14165471:C:A p.(Leu52=) NC_000003.12:14165471:C:A p.(Leu52=) NC_000003.12:14165471:C:A Identity +NM_001171933.1:c.1488A>C NP_001165404.1:p.Thr496= NC_000010.11:71807305:A:C p.(Thr496=) NC_000010.11:71807305:A:C p.(Thr496=) NC_000010.11:71807305:A:C Identity +NM_000492.4:c.1638C>T NP_000483.3:p.Ile546= NC_000007.14:117587791:C:T p.(Ile546=) NC_000007.14:117587791:C:T p.(Ile546=) NC_000007.14:117587791:C:T Identity +NM_000466.3:c.789A>T NP_000457.1:p.Thr263= NC_000007.14:92517725:T:A p.(Thr263=) NC_000007.14:92517725:T:A p.(Thr263=) NC_000007.14:92517725:T:A Identity +NM_000275.3:c.546C>A NP_000266.2:p.Gly182= NC_000015.10:28024871:G:T p.(Gly182=) NC_000015.10:28024871:G:T p.(Gly182=) NC_000015.10:28024871:G:T Identity +NM_001024688.3:c.1827C>A NP_001019859.1:p.Val609= NC_000008.11:89943363:G:T p.(Val609=) NC_000008.11:89943363:G:T p.(Val609=) NC_000008.11:89943363:G:T Identity +NM_001034850.3:c.15G>T NP_001030022.1:p.Ala5= NC_000005.10:16616956:C:A p.(Ala5=) NC_000005.10:16616956:C:A p.(Ala5=) NC_000005.10:16616956:C:A Identity +NM_000271.5:c.1405T>C NP_000262.2:p.Leu469= NC_000018.10:23554905:A:G p.(Leu469=) NC_000018.10:23554905:A:G p.(Leu469=) NC_000018.10:23554905:A:G Identity +NM_001308164.2:c.1992T>A NP_001295093.1:p.Ile664= NC_000003.12:158690187:T:A p.(Ile664=) NC_000003.12:158690187:T:A p.(Ile664=) NC_000003.12:158690187:T:A Identity +NM_001384732.1:c.4407G>C NP_001371661.1:p.Val1469= NC_000005.10:37184861:C:G p.(Val1469=) NC_000005.10:37184861:C:G p.(Val1469=) NC_000005.10:37184861:C:G Identity +NM_001098802.3:c.441G>A NP_001092272.1:p.Ser147= NC_000009.12:78240305:G:A p.(Ser147=) NC_000009.12:78240305:G:A p.(Ser147=) NC_000009.12:78240305:G:A Identity +NM_000135.4:c.3168C>G NP_000126.2:p.Leu1056= NC_000016.10:89749800:G:C p.(Leu1056=) NC_000016.10:89749800:G:C p.(Leu1056=) NC_000016.10:89749800:G:C Identity +NM_021154.5:c.516A>G NP_066977.1:p.Val172= NC_000009.12:78306431:A:G p.(Val172=) NC_000009.12:78306431:A:G p.(Val172=) NC_000009.12:78306431:A:G Identity +NM_017890.5:c.10431A>G NP_060360.3:p.Glu3477= NC_000008.11:99853744:A:G p.(Glu3477=) NC_000008.11:99853744:A:G p.(Glu3477=) NC_000008.11:99853744:A:G Identity +NM_032119.4:c.12135A>G NP_115495.3:p.Glu4045= NC_000005.10:90763318:A:G p.(Glu4045=) NC_000005.10:90763318:A:G p.(Glu4045=) NC_000005.10:90763318:A:G Identity +NM_001111034.3:c.15G>A NP_001104504.1:p.Thr5= NC_000019.10:11577302:C:T p.(Thr5=) NC_000019.10:11577302:C:T p.(Thr5=) NC_000019.10:11577302:C:T Identity +NM_001278055.2:c.4095A>G NP_001264984.1:p.Pro1365= NC_000013.11:23339339:T:C p.(Pro1365=) NC_000013.11:23339339:T:C p.(Pro1365=) NC_000013.11:23339339:T:C Identity +NM_001363746.1:c.570G>A NP_001350675.1:p.Val190= NC_000009.12:136198910:C:T p.(Val190=) NC_000009.12:136198910:C:T p.(Val190=) NC_000009.12:136198910:C:T Identity +NM_022124.6:c.5997C>A NP_071407.4:p.Thr1999= NC_000010.11:71790360:C:A p.(Thr1999=) NC_000010.11:71790360:C:A p.(Thr1999=) NC_000010.11:71790360:C:A Identity +NM_000359.3:c.810T>C NP_000350.1:p.Asn270= NC_000014.9:24260005:A:G p.(Asn270=) NC_000014.9:24260005:A:G p.(Asn270=) NC_000014.9:24260005:A:G Identity +NM_017890.5:c.8700A>G NP_060360.3:p.Glu2900= NC_000008.11:99819414:A:G p.(Glu2900=) NC_000008.11:99819414:A:G p.(Glu2900=) NC_000008.11:99819414:A:G Identity +NM_000339.3:c.2916G>T NP_000330.3:p.Val972= NC_000016.10:56904426:G:T p.(Val972=) NC_000016.10:56904426:G:T p.(Val972=) NC_000016.10:56904426:G:T Identity +NM_001320641.2:c.1269G>C NP_001307570.1:p.Gly423= NC_000002.12:127052263:C:G p.(Gly423=) NC_000002.12:127052263:C:G p.(Gly423=) NC_000002.12:127052263:C:G Identity +NM_005562.3:c.2901A>G NP_005553.2:p.Ala967= NC_000001.11:183239394:A:G p.(Ala967=) NC_000001.11:183239394:A:G p.(Ala967=) NC_000001.11:183239394:A:G Identity +NM_001184795.1:c.273T>C NP_001171724.1:p.Ala91= NC_000001.11:145916875:A:G p.(Ala91=) NC_000001.11:145916875:A:G p.(Ala91=) NC_000001.11:145916875:A:G Identity +NM_001286130.2:c.1956A>G NP_001273059.1:p.Leu652= NC_000016.10:57917459:T:C p.(Leu652=) NC_000016.10:57917459:T:C p.(Leu652=) NC_000016.10:57917459:T:C Identity +NM_001004334.4:c.4740G>A NP_001004334.3:p.Pro1580= NC_000017.11:38328828:C:T p.(Pro1580=) NC_000017.11:38328828:C:T p.(Pro1580=) NC_000017.11:38328828:C:T Identity +NM_032119.4:c.13632A>C NP_115495.3:p.Gly4544= NC_000005.10:90784035:A:C p.(Gly4544=) NC_000005.10:90784035:A:C p.(Gly4544=) NC_000005.10:90784035:A:C Identity +NM_015346.4:c.1959A>G NP_056161.2:p.Pro653= NC_000014.9:67798302:T:C p.(Pro653=) NC_000014.9:67798302:T:C p.(Pro653=) NC_000014.9:67798302:T:C Identity +NM_001297764.2:c.1503T>A NP_001284693.1:p.Ala501= NC_000011.10:17498191:A:T p.(Ala501=) NC_000011.10:17498191:A:T p.(Ala501=) NC_000011.10:17498191:A:T Identity +NM_001316350.2:c.445C>A NP_001303279.1:p.Arg149= NC_000001.11:231265351:C:A p.(Arg149=) NC_000001.11:231265351:C:A p.(Arg149=) NC_000001.11:231265351:C:A Identity +NM_206933.4:c.11793C>T NP_996816.3:p.Thr3931= NC_000001.11:215728302:G:A p.(Thr3931=) NC_000001.11:215728302:G:A p.(Thr3931=) NC_000001.11:215728302:G:A Identity +NM_001308258.2:c.969G>A NP_001295187.1:p.Leu323= NC_000003.12:149155169:G:A p.(Leu323=) NC_000003.12:149155169:G:A p.(Leu323=) NC_000003.12:149155169:G:A Identity +NM_001252020.2:c.1503G>A NP_001238949.1:p.Glu501= NC_000015.10:31049494:C:T p.(Glu501=) NC_000015.10:31049494:C:T p.(Glu501=) NC_000015.10:31049494:C:T Identity +NM_004646.4:c.3111T>A NP_004637.1:p.Gly1037= NC_000019.10:35835759:A:T p.(Gly1037=) NC_000019.10:35835759:A:T p.(Gly1037=) NC_000019.10:35835759:A:T Identity +NM_001363746.1:c.498C>T NP_001350675.1:p.Asn166= NC_000009.12:136198982:G:A p.(Asn166=) NC_000009.12:136198982:G:A p.(Asn166=) NC_000009.12:136198982:G:A Identity +NM_001371986.1:c.8205A>G NP_001358915.1:p.Pro2735= NC_000002.12:209970905:A:G p.(Pro2735=) NC_000002.12:209970905:A:G p.(Pro2735=) NC_000002.12:209970905:A:G Identity +NM_012327.6:c.9G>A NP_036459.1:p.Leu3= NC_000018.10:62161344:C:T p.(Leu3=) NC_000018.10:62161344:C:T p.(Leu3=) NC_000018.10:62161344:C:T Identity +NM_001171930.2:c.1638G>T NP_001165401.1:p.Arg546= NC_000010.11:71677578:G:T p.(Arg546=) NC_000010.11:71677578:G:T p.(Arg546=) NC_000010.11:71677578:G:T Identity +NM_001305275.2:c.2898G>A NP_001292204.1:p.Leu966= NC_000001.11:1046251:G:A p.(Leu966=) NC_000001.11:1046251:G:A p.(Leu966=) NC_000001.11:1046251:G:A Identity +NM_004646.4:c.1734G>A NP_004637.1:p.Leu578= NC_000019.10:35845691:C:T p.(Leu578=) NC_000019.10:35845691:C:T p.(Leu578=) NC_000019.10:35845691:C:T Identity +NM_001041.4:c.2028G>A NP_001032.2:p.Gly676= NC_000003.12:165041070:C:T p.(Gly676=) NC_000003.12:165041070:C:T p.(Gly676=) NC_000003.12:165041070:C:T Identity +NM_001142800.2:c.4824G>T NP_001136272.1:p.Gly1608= NC_000006.12:64591042:C:A p.(Gly1608=) NC_000006.12:64591042:C:A p.(Gly1608=) NC_000006.12:64591042:C:A Identity +NM_001201543.2:c.177G>C NP_001188472.1:p.Gly59= NC_000002.12:61853864:C:G p.(Gly59=) NC_000002.12:61853864:C:G p.(Gly59=) NC_000002.12:61853864:C:G Identity +NM_001261406.2:c.4932C>T NP_001248335.1:p.Ile1644= NC_000009.12:13122092:G:A p.(Ile1644=) NC_000009.12:13122092:G:A p.(Ile1644=) NC_000009.12:13122092:G:A Identity +NM_002076.4:c.1215C>T NP_002067.1:p.Asn405= NC_000012.12:64723098:G:A p.(Asn405=) NC_000012.12:64723098:G:A p.(Asn405=) NC_000012.12:64723098:G:A Identity +NM_017890.5:c.2034T>C NP_060360.3:p.Asn678= NC_000008.11:99156568:T:C p.(Asn678=) NC_000008.11:99156568:T:C p.(Asn678=) NC_000008.11:99156568:T:C Identity +NM_001142800.2:c.1152A>G NP_001136272.1:p.Thr384= NC_000006.12:65402509:T:C p.(Thr384=) NC_000006.12:65402509:T:C p.(Thr384=) NC_000006.12:65402509:T:C Identity +NM_005562.3:c.1269C>G NP_005553.2:p.Ala423= NC_000001.11:183226899:C:G p.(Ala423=) NC_000001.11:183226899:C:G p.(Ala423=) NC_000001.11:183226899:C:G Identity +NM_000195.5:c.1812G>A NP_000186.2:p.Glu604= NC_000010.11:98420089:C:T p.(Glu604=) NC_000010.11:98420089:C:T p.(Glu604=) NC_000010.11:98420089:C:T Identity +NM_001172435.2:c.12C>T NP_001165906.1:p.Asp4= NC_000002.12:135052318:C:T p.(Asp4=) NC_000002.12:135052318:C:T p.(Asp4=) NC_000002.12:135052318:C:T Identity +NM_020461.4:c.3954G>A NP_065194.3:p.Gly1318= NC_000022.11:50220404:C:T p.(Gly1318=) NC_000022.11:50220404:C:T p.(Gly1318=) NC_000022.11:50220404:C:T Identity +NM_001017420.3:c.972T>C NP_001017420.1:p.Thr324= NC_000008.11:27784015:T:C p.(Thr324=) NC_000008.11:27784015:T:C p.(Thr324=) NC_000008.11:27784015:T:C Identity +NM_015932.6:c.171C>G NP_057016.1:p.Leu57= NC_000013.11:28668480:C:G p.(Leu57=) NC_000013.11:28668480:C:G p.(Leu57=) NC_000013.11:28668480:C:G Identity +NM_015346.4:c.1140A>G NP_056161.2:p.Leu380= NC_000014.9:67805495:T:C p.(Leu380=) NC_000014.9:67805495:T:C p.(Leu380=) NC_000014.9:67805495:T:C Identity +NM_206933.4:c.14847G>A NP_996816.3:p.Val4949= NC_000001.11:215640678:C:T p.(Val4949=) NC_000001.11:215640678:C:T p.(Val4949=) NC_000001.11:215640678:C:T Identity +NM_001142763.2:c.3606G>A NP_001136235.1:p.Val1202= NC_000010.11:53866767:C:T p.(Val1202=) NC_000010.11:53866767:C:T p.(Val1202=) NC_000010.11:53866767:C:T Identity +NM_001346754.2:c.1297A>C NP_001333683.1:p.Arg433= NC_000017.11:36538397:A:C p.(Arg433=) NC_000017.11:36538397:A:C p.(Arg433=) NC_000017.11:36538397:A:C Identity +NM_001080467.3:c.2610C>T NP_001073936.1:p.His870= NC_000018.10:49902794:G:A p.(His870=) NC_000018.10:49902794:G:A p.(His870=) NC_000018.10:49902794:G:A Identity +NM_000071.3:c.465C>T NP_000062.1:p.Ala155= NC_000021.9:43065681:G:A p.(Ala155=) NC_000021.9:43065681:G:A p.(Ala155=) NC_000021.9:43065681:G:A Identity +NM_015346.4:c.3750G>A NP_056161.2:p.Leu1250= NC_000014.9:67783401:C:T p.(Leu1250=) NC_000014.9:67783401:C:T p.(Leu1250=) NC_000014.9:67783401:C:T Identity +NM_001171933.1:c.225C>T NP_001165404.1:p.Leu75= NC_000010.11:71798468:C:T p.(Leu75=) NC_000010.11:71798468:C:T p.(Leu75=) NC_000010.11:71798468:C:T Identity +NM_005216.5:c.111C>T NP_005207.3:p.Leu37= NC_000001.11:20661239:G:A p.(Leu37=) NC_000001.11:20661239:G:A p.(Leu37=) NC_000001.11:20661239:G:A Identity +NM_001130067.2:c.1599G>A NP_001123539.1:p.Leu533= NC_000004.12:153315896:G:A p.(Leu533=) NC_000004.12:153315896:G:A p.(Leu533=) NC_000004.12:153315896:G:A Identity +NM_000339.3:c.489G>C NP_000330.3:p.Thr163= NC_000016.10:56868355:G:C p.(Thr163=) NC_000016.10:56868355:G:C p.(Thr163=) NC_000016.10:56868355:G:C Identity +NM_001291860.2:c.759T>C NP_001278789.1:p.Ser253= NC_000001.11:21887618:A:G p.(Ser253=) NC_000001.11:21887618:A:G p.(Ser253=) NC_000001.11:21887618:A:G Identity +NM_032119.4:c.4338C>T NP_115495.3:p.Pro1446= NC_000005.10:90653911:C:T p.(Pro1446=) NC_000005.10:90653911:C:T p.(Pro1446=) NC_000005.10:90653911:C:T Identity +NM_017890.5:c.3237T>C NP_060360.3:p.Phe1079= NC_000008.11:99442426:T:C p.(Phe1079=) NC_000008.11:99442426:T:C p.(Phe1079=) NC_000008.11:99442426:T:C Identity +NM_001371986.1:c.1611C>G NP_001358915.1:p.Ala537= NC_000002.12:209817869:C:G p.(Ala537=) NC_000002.12:209817869:C:G p.(Ala537=) NC_000002.12:209817869:C:G Identity +NM_001278055.2:c.10785T>C NP_001264984.1:p.Asp3595= NC_000013.11:23332649:A:G p.(Asp3595=) NC_000013.11:23332649:A:G p.(Asp3595=) NC_000013.11:23332649:A:G Identity +NM_000071.3:c.243G>C NP_000062.1:p.Leu81= NC_000021.9:43068581:C:G p.(Leu81=) NC_000021.9:43068581:C:G p.(Leu81=) NC_000021.9:43068581:C:G Identity +NM_020461.4:c.1728C>T NP_065194.3:p.Ile576= NC_000022.11:50226154:G:A p.(Ile576=) NC_000022.11:50226154:G:A p.(Ile576=) NC_000022.11:50226154:G:A Identity +NM_017890.5:c.2730C>T NP_060360.3:p.Leu910= NC_000008.11:99275159:C:T p.(Leu910=) NC_000008.11:99275159:C:T p.(Leu910=) NC_000008.11:99275159:C:T Identity +NM_173630.4:c.2082G>T NP_775901.3:p.Leu694= NC_000018.10:70150060:C:A p.(Leu694=) NC_000018.10:70150060:C:A p.(Leu694=) NC_000018.10:70150060:C:A Identity +NM_032119.4:c.786C>T NP_115495.3:p.Pro262= NC_000005.10:90627323:C:T p.(Pro262=) NC_000005.10:90627323:C:T p.(Pro262=) NC_000005.10:90627323:C:T Identity +NM_001305275.2:c.5562G>T NP_001292204.1:p.Pro1854= NC_000001.11:1051631:G:T p.(Pro1854=) NC_000001.11:1051631:G:T p.(Pro1854=) NC_000001.11:1051631:G:T Identity +NM_001354726.2:c.1050A>T NP_001341655.1:p.Val350= NC_000003.12:14158253:T:A p.(Val350=) NC_000003.12:14158253:T:A p.(Val350=) NC_000003.12:14158253:T:A Identity +NM_001171933.1:c.2334C>T NP_001165404.1:p.Thr778= NC_000010.11:71810545:C:T p.(Thr778=) NC_000010.11:71810545:C:T p.(Thr778=) NC_000010.11:71810545:C:T Identity +NM_032119.4:c.2136C>T NP_115495.3:p.Gly712= NC_000005.10:90637843:C:T p.(Gly712=) NC_000005.10:90637843:C:T p.(Gly712=) NC_000005.10:90637843:C:T Identity +NM_001018037.2:c.4128T>C NP_001018047.1:p.Ala1376= NC_000009.12:77314496:T:C p.(Ala1376=) NC_000009.12:77314496:T:C p.(Ala1376=) NC_000009.12:77314496:T:C Identity +NM_001142800.2:c.7758G>A NP_001136272.1:p.Lys2586= NC_000006.12:63778145:C:T p.(Lys2586=) NC_000006.12:63778145:C:T p.(Lys2586=) NC_000006.12:63778145:C:T Identity +NM_000157.4:c.546G>A NP_000148.2:p.Gln182= NC_000001.11:155238558:C:T p.(Gln182=) NC_000001.11:155238558:C:T p.(Gln182=) NC_000001.11:155238558:C:T Identity +NM_017813.5:c.1005C>A NP_060283.3:p.Leu335= NC_000008.11:56963867:G:T p.(Leu335=) NC_000008.11:56963867:G:T p.(Leu335=) NC_000008.11:56963867:G:T Identity +NM_001330347.2:c.1893C>T NP_001317276.1:p.Ser631= NC_000011.10:94437206:G:A p.(Ser631=) NC_000011.10:94437206:G:A p.(Ser631=) NC_000011.10:94437206:G:A Identity +NM_001018115.3:c.1371A>T NP_001018125.1:p.Leu457= NC_000003.12:10048008:A:T p.(Leu457=) NC_000003.12:10048008:A:T p.(Leu457=) NC_000003.12:10048008:A:T Identity +NM_000135.4:c.3907C>T NP_000126.2:p.Leu1303= NC_000016.10:89740020:G:A p.(Leu1303=) NC_000016.10:89740020:G:A p.(Leu1303=) NC_000016.10:89740020:G:A Identity +NM_001278055.2:c.11581_11590delinsAATGAAC NP_001264984.1:p.Ser3861_Phe3864delinsAsnGluLeu NC_000013.11:23331844:ACTGTTCAGA:GTTCATT p.(Glu3862_Phe3864delinsMetAsn) NC_000013.11:23331842:GAACTGTTCAGAA:GAAGTTCATT p.(Ser3861_Phe3864delinsAsnGluLeu) NC_000013.11:23331844:ACTGTTCAGA:GTTCATT Different +NM_000492.4:c.423C>A NP_000483.3:p.Ala141= NC_000007.14:117531047:C:A p.(Ala141=) NC_000007.14:117531047:C:A p.(Ala141=) NC_000007.14:117531047:C:A Identity +NM_000492.4:c.3111A>G NP_000483.3:p.Ser1037= NC_000007.14:117610640:A:G p.(Ser1037=) NC_000007.14:117610640:A:G p.(Ser1037=) NC_000007.14:117610640:A:G Identity +NM_000400.4:c.507C>T NP_000391.1:p.Pro169= NC_000019.10:45364924:G:A p.(Pro169=) NC_000019.10:45364924:G:A p.(Pro169=) NC_000019.10:45364924:G:A Identity +NM_000407.5:c.477C>T NP_000398.1:p.Gly159= NC_000022.11:19724319:C:T p.(Gly159=) NC_000022.11:19724319:C:T p.(Gly159=) NC_000022.11:19724319:C:T Identity +NM_001384732.1:c.570G>A NP_001371661.1:p.Glu190= NC_000005.10:37244374:C:T p.(Glu190=) NC_000005.10:37244374:C:T p.(Glu190=) NC_000005.10:37244374:C:T Identity +NM_001170414.2:c.2811G>A NP_001163885.1:p.Glu937= NC_000009.12:69248223:G:A p.(Glu937=) NC_000009.12:69248223:G:A p.(Glu937=) NC_000009.12:69248223:G:A Identity +NM_000352.6:c.21C>T NP_000343.2:p.Gly7= NC_000011.10:17476755:G:A p.(Gly7=) NC_000011.10:17476755:G:A p.(Gly7=) NC_000011.10:17476755:G:A Identity +NM_001163817.2:c.432G>A NP_001157289.1:p.Gln144= NC_000011.10:71441420:C:T p.(Gln144=) NC_000011.10:71441420:C:T p.(Gln144=) NC_000011.10:71441420:C:T Identity +NM_001318502.2:c.1545A>G NP_001305431.1:p.Lys515= NC_000009.12:136431824:T:C p.(Lys515=) NC_000009.12:136431824:T:C p.(Lys515=) NC_000009.12:136431824:T:C Identity +NM_001170414.2:c.1809C>G NP_001163885.1:p.Thr603= NC_000009.12:69236124:C:G p.(Thr603=) NC_000009.12:69236124:C:G p.(Thr603=) NC_000009.12:69236124:C:G Identity +NM_001378454.1:c.1761G>A NP_001365383.1:p.Gln587= NC_000002.12:73448287:G:A p.(Gln587=) NC_000002.12:73448287:G:A p.(Gln587=) NC_000002.12:73448287:G:A Identity +NM_001318520.2:c.780A>G NP_001305449.1:p.Leu260= NC_000018.10:70121567:T:C p.(Leu260=) NC_000018.10:70121567:T:C p.(Leu260=) NC_000018.10:70121567:T:C Identity +NM_017890.5:c.10599G>A NP_060360.3:p.Val3533= NC_000008.11:99853912:G:A p.(Val3533=) NC_000008.11:99853912:G:A p.(Val3533=) NC_000008.11:99853912:G:A Identity +NM_000081.4:c.672C>T NP_000072.2:p.Ser224= NC_000001.11:235810145:G:A p.(Ser224=) NC_000001.11:235810145:G:A p.(Ser224=) NC_000001.11:235810145:G:A Identity +NM_001042692.3:c.660G>A NP_001036157.1:p.Leu220= NC_000002.12:63404345:C:T p.(Leu220=) NC_000002.12:63404345:C:T p.(Leu220=) NC_000002.12:63404345:C:T Identity +NM_001003679.3:c.2550T>C NP_001003679.1:p.Ile850= NC_000001.11:65621410:T:C p.(Ile850=) NC_000001.11:65621410:T:C p.(Ile850=) NC_000001.11:65621410:T:C Identity +NM_001081.4:c.5517C>T NP_001072.2:p.Ser1839= NC_000010.11:16940062:G:A p.(Ser1839=) NC_000010.11:16940062:G:A p.(Ser1839=) NC_000010.11:16940062:G:A Identity +NM_001303.4:c.570G>T NP_001294.2:p.Leu190= NC_000017.11:14102187:G:T p.(Leu190=) NC_000017.11:14102187:G:T p.(Leu190=) NC_000017.11:14102187:G:T Identity +NM_001378454.1:c.12141C>T NP_001365383.1:p.Asp4047= NC_000002.12:73602210:C:T p.(Asp4047=) NC_000002.12:73602210:C:T p.(Asp4047=) NC_000002.12:73602210:C:T Identity +NM_001003679.3:c.286_289delinsT NP_001003679.1:p.Asp96_Arg97delinsTer NC_000001.11:65570717:GATA:T p.(Arg97del) NC_000001.11:65570716:AGATAGA:AGAT p.(Asp96Ter) NC_000001.11:65570717:GATA:T Different +NM_001003680.3:c.2850C>T NP_001003680.1:p.Ser950= NC_000001.11:65630377:C:T p.(Ser950=) NC_000001.11:65630377:C:T p.(Ser950=) NC_000001.11:65630377:C:T Identity +NM_001278293.3:c.456C>T NP_001265222.1:p.Ile152= NC_000003.12:97788095:C:T p.(Ile152=) NC_000003.12:97788095:C:T p.(Ile152=) NC_000003.12:97788095:C:T Identity +NM_173551.5:c.2373G>A NP_775822.3:p.Gln791= NC_000009.12:98751049:C:T p.(Gln791=) NC_000009.12:98751049:C:T p.(Gln791=) NC_000009.12:98751049:C:T Identity +NM_017890.5:c.10125C>T NP_060360.3:p.Thr3375= NC_000008.11:99848882:C:T p.(Thr3375=) NC_000008.11:99848882:C:T p.(Thr3375=) NC_000008.11:99848882:C:T Identity +NM_001318502.2:c.876C>A NP_001305431.1:p.Arg292= NC_000009.12:136434799:G:T p.(Arg292=) NC_000009.12:136434799:G:T p.(Arg292=) NC_000009.12:136434799:G:T Identity +NM_001363227.2:c.1029G>A NP_001350156.1:p.Val343= NC_000008.11:43182160:G:A p.(Val343=) NC_000008.11:43182160:G:A p.(Val343=) NC_000008.11:43182160:G:A Identity +NM_018848.3:c.1107A>G NP_061336.1:p.Thr369= NC_000020.11:10408681:T:C p.(Thr369=) NC_000020.11:10408681:T:C p.(Thr369=) NC_000020.11:10408681:T:C Identity +NM_017890.5:c.11511C>G NP_060360.3:p.Arg3837= NC_000008.11:99870827:C:G p.(Arg3837=) NC_000008.11:99870827:C:G p.(Arg3837=) NC_000008.11:99870827:C:G Identity +NM_018848.3:c.345T>C NP_061336.1:p.Thr115= NC_000020.11:10413169:A:G p.(Thr115=) NC_000020.11:10413169:A:G p.(Thr115=) NC_000020.11:10413169:A:G Identity +NM_001385218.1:c.357C>T NP_001372147.1:p.Phe119= NC_000020.11:34269124:C:T p.(Phe119=) NC_000020.11:34269124:C:T p.(Phe119=) NC_000020.11:34269124:C:T Identity +NM_032040.5:c.367C>A NP_114429.2:p.Arg123= NC_000019.10:46412443:G:T p.(Arg123=) NC_000019.10:46412443:G:T p.(Arg123=) NC_000019.10:46412443:G:T Identity +NM_002485.5:c.246A>G NP_002476.2:p.Lys82= NC_000008.11:89981448:T:C p.(Lys82=) NC_000008.11:89981448:T:C p.(Lys82=) NC_000008.11:89981448:T:C Identity +NM_000091.5:c.1590C>T NP_000082.2:p.Ala530= NC_000002.12:227270783:C:T p.(Ala530=) NC_000002.12:227270783:C:T p.(Ala530=) NC_000002.12:227270783:C:T Identity +NM_031475.3:c.1692C>T NP_113663.2:p.Leu564= NC_000001.11:6448867:C:T p.(Leu564=) NC_000001.11:6448867:C:T p.(Leu564=) NC_000001.11:6448867:C:T Identity +NM_001242581.2:c.621G>A NP_001229510.1:p.Leu207= NC_000020.11:19964961:G:A p.(Leu207=) NC_000020.11:19964961:G:A p.(Leu207=) NC_000020.11:19964961:G:A Identity +NM_001211.6:c.1236T>C NP_001202.5:p.Phe412= NC_000015.10:40196721:T:C p.(Phe412=) NC_000015.10:40196721:T:C p.(Phe412=) NC_000015.10:40196721:T:C Identity +NM_000400.4:c.846G>C NP_000391.1:p.Arg282= NC_000019.10:45364088:C:G p.(Arg282=) NC_000019.10:45364088:C:G p.(Arg282=) NC_000019.10:45364088:C:G Identity +NM_001010895.4:c.1287T>C NP_001010895.2:p.Asn429= NC_000009.12:95921302:T:C p.(Asn429=) NC_000009.12:95921302:T:C p.(Asn429=) NC_000009.12:95921302:T:C Identity +NM_000135.4:c.33G>T NP_000126.2:p.Ser11= NC_000016.10:89816582:C:A p.(Ser11=) NC_000016.10:89816582:C:A p.(Ser11=) NC_000016.10:89816582:C:A Identity +NM_000135.4:c.1344T>C NP_000126.2:p.Tyr448= NC_000016.10:89791417:A:G p.(Tyr448=) NC_000016.10:89791417:A:G p.(Tyr448=) NC_000016.10:89791417:A:G Identity +NM_001378454.1:c.7071T>C NP_001365383.1:p.Thr2357= NC_000002.12:73453597:T:C p.(Thr2357=) NC_000002.12:73453597:T:C p.(Thr2357=) NC_000002.12:73453597:T:C Identity +NM_001211.6:c.243del NP_001202.5:p.Arg80_Tyr81insTer NC_000015.10:40170539:T: p.(Tyr81Ter) NC_000015.10:40170539:T: p.(Tyr81Ter) NC_000015.10:40170539:T: Analogous +NM_004998.4:c.126A>G NP_004989.2:p.Arg42= NC_000015.10:59272326:T:C p.(Arg42=) NC_000015.10:59272326:T:C p.(Arg42=) NC_000015.10:59272326:T:C Identity +NM_002204.4:c.732_733delinsAG NP_002195.1:p.Asp244_Gln245delinsGluGlu NC_000017.11:50070910:CC:AG p.(Asp244_Gln245delinsGluGlu) NC_000017.11:50070910:CC:AG p.(Asp244_Gln245delinsGluGlu) NC_000017.11:50070910:CC:AG Identity +NM_001424343.1:c.957T>A NP_001411272.1:p.Ala319= NC_000020.11:54162749:A:T p.(Ala319=) NC_000020.11:54162749:A:T p.(Ala319=) NC_000020.11:54162749:A:T Identity +NM_001127698.2:c.2322_2326del NP_001121170.1:p.Cys774_Glu776delinsTer NC_000005.10:148120013:ATGTGATG:ATG p.(Cys774Ter) NC_000005.10:148120013:ATGTGATG:ATG p.(Cys774Ter) NC_000005.10:148120016:TGATG: Analogous +NM_001271933.2:c.1293_1298del NP_001258862.1:p.Val432_Leu433del NC_000011.10:117375766:AGTCCT: p.(Val432_Leu433del) NC_000011.10:117375766:AGTCCT: p.(Val432_Leu433del) NC_000011.10:117375766:AGTCCT: Identity +NM_001365212.1:c.54C>T NP_001352141.1:p.Ile18= NC_000001.11:173825282:C:T p.(Ile18=) NC_000001.11:173825282:C:T p.(Ile18=) NC_000001.11:173825282:C:T Identity +NM_000663.5:c.39C>T NP_000654.2:p.Ser13= NC_000016.10:8735777:C:T p.(Ser13=) NC_000016.10:8735777:C:T p.(Ser13=) NC_000016.10:8735777:C:T Identity +NM_001291860.2:c.6801C>T NP_001278789.1:p.Cys2267= NC_000001.11:21852159:G:A p.(Cys2267=) NC_000001.11:21852159:G:A p.(Cys2267=) NC_000001.11:21852159:G:A Identity +NM_001041.4:c.234T>C NP_001032.2:p.Ile78= NC_000003.12:165074551:A:G p.(Ile78=) NC_000003.12:165074551:A:G p.(Ile78=) NC_000003.12:165074551:A:G Identity +NM_057176.3:c.603G>A NP_476517.1:p.Leu201= NC_000001.11:55008267:G:A p.(Leu201=) NC_000001.11:55008267:G:A p.(Leu201=) NC_000001.11:55008267:G:A Identity +NM_005876.5:c.1533G>A NP_005867.3:p.Val511= NC_000002.12:219448690:G:A p.(Val511=) NC_000002.12:219448690:G:A p.(Val511=) NC_000002.12:219448690:G:A Identity +NM_001293197.2:c.486G>A NP_001280126.1:p.Lys162= NC_000016.10:682196:G:A p.(Lys162=) NC_000016.10:682196:G:A p.(Lys162=) NC_000016.10:682196:G:A Identity +NM_015909.4:c.5020C>T NP_056993.2:p.Leu1674= NC_000002.12:15292543:G:A p.(Leu1674=) NC_000002.12:15292543:G:A p.(Leu1674=) NC_000002.12:15292543:G:A Identity +NM_001289905.2:c.2253G>A NP_001276834.1:p.Glu751= NC_000022.11:17109573:G:A p.(Glu751=) NC_000022.11:17109573:G:A p.(Glu751=) NC_000022.11:17109573:G:A Identity +NM_000259.3:c.5232G>A NP_000250.3:p.Leu1744= NC_000015.10:52317149:C:T p.(Leu1744=) NC_000015.10:52317149:C:T p.(Leu1744=) NC_000015.10:52317149:C:T Identity +NM_152468.5:c.1467C>A NP_689681.2:p.Leu489= NC_000017.11:78138121:C:A p.(Leu489=) NC_000017.11:78138121:C:A p.(Leu489=) NC_000017.11:78138121:C:A Identity +NM_001286130.2:c.1620C>T NP_001273059.1:p.Asp540= NC_000016.10:57923277:G:A p.(Asp540=) NC_000016.10:57923277:G:A p.(Asp540=) NC_000016.10:57923277:G:A Identity +NM_001004334.4:c.2715T>A NP_001004334.3:p.Pro905= NC_000017.11:38330853:A:T p.(Pro905=) NC_000017.11:38330853:A:T p.(Pro905=) NC_000017.11:38330853:A:T Identity +NM_001371986.1:c.4644C>G NP_001358915.1:p.Pro1548= NC_000002.12:209904826:C:G p.(Pro1548=) NC_000002.12:209904826:C:G p.(Pro1548=) NC_000002.12:209904826:C:G Identity +NM_001305275.2:c.717C>T NP_001292204.1:p.Arg239= NC_000001.11:1040869:C:T p.(Arg239=) NC_000001.11:1040869:C:T p.(Arg239=) NC_000001.11:1040869:C:T Identity +NM_000254.3:c.1842T>A NP_000245.2:p.Ala614= NC_000001.11:236852976:T:A p.(Ala614=) NC_000001.11:236852976:T:A p.(Ala614=) NC_000001.11:236852976:T:A Identity +NM_138477.4:c.1918C>T NP_612486.2:p.Leu640= NC_000015.10:42731013:G:A p.(Leu640=) NC_000015.10:42731013:G:A p.(Leu640=) NC_000015.10:42731013:G:A Identity +NM_032409.3:c.1230C>T NP_115785.1:p.Asn410= NC_000001.11:20648610:C:T p.(Asn410=) NC_000001.11:20648610:C:T p.(Asn410=) NC_000001.11:20648610:C:T Identity +NM_004482.4:c.1683T>C NP_004473.2:p.Cys561= NC_000002.12:165749837:A:G p.(Cys561=) NC_000002.12:165749837:A:G p.(Cys561=) NC_000002.12:165749837:A:G Identity +NM_001178098.2:c.1272C>T NP_001171569.1:p.Asp424= NC_000016.10:28937343:C:T p.(Asp424=) NC_000016.10:28937343:C:T p.(Asp424=) NC_000016.10:28937343:C:T Identity +NM_000400.4:c.39G>A NP_000391.1:p.Pro13= NC_000019.10:45370198:C:T p.(Pro13=) NC_000019.10:45370198:C:T p.(Pro13=) NC_000019.10:45370198:C:T Identity +NM_001080976.3:c.1203T>A NP_001074445.1:p.Thr401= NC_000006.12:116435670:T:A p.(Thr401=) NC_000006.12:116435670:T:A p.(Thr401=) NC_000006.12:116435670:T:A Identity +NM_001040113.2:c.4161G>A NP_001035202.1:p.Leu1387= NC_000016.10:15724385:C:T p.(Leu1387=) NC_000016.10:15724385:C:T p.(Leu1387=) NC_000016.10:15724385:C:T Identity +NM_133497.4:c.498G>C NP_598004.1:p.Leu166= NC_000009.12:2718236:G:C p.(Leu166=) NC_000009.12:2718236:G:C p.(Leu166=) NC_000009.12:2718236:G:C Identity +NM_003824.4:c.129A>C NP_003815.1:p.Leu43= NC_000011.10:70203587:A:C p.(Leu43=) NC_000011.10:70203587:A:C p.(Leu43=) NC_000011.10:70203587:A:C Identity +NM_001041.4:c.4362T>C NP_001032.2:p.Asp1454= NC_000003.12:165006859:A:G p.(Asp1454=) NC_000003.12:165006859:A:G p.(Asp1454=) NC_000003.12:165006859:A:G Identity +NM_012293.3:c.225A>G NP_036425.1:p.Arg75= NC_000002.12:1693109:T:C p.(Arg75=) NC_000002.12:1693109:T:C p.(Arg75=) NC_000002.12:1693109:T:C Identity +NM_004525.3:c.10632A>G NP_004516.2:p.Glu3544= NC_000002.12:169175328:T:C p.(Glu3544=) NC_000002.12:169175328:T:C p.(Glu3544=) NC_000002.12:169175328:T:C Identity +NM_001278064.2:c.3213T>A NP_001264993.1:p.Pro1071= NC_000006.12:146434423:T:A p.(Pro1071=) NC_000006.12:146434423:T:A p.(Pro1071=) NC_000006.12:146434423:T:A Identity +NM_006785.4:c.855A>G NP_006776.1:p.Gln285= NC_000018.10:58710001:A:G p.(Gln285=) NC_000018.10:58710001:A:G p.(Gln285=) NC_000018.10:58710001:A:G Identity +NM_021922.3:c.1452C>T NP_068741.1:p.Thr484= NC_000006.12:35462856:C:T p.(Thr484=) NC_000006.12:35462856:C:T p.(Thr484=) NC_000006.12:35462856:C:T Identity +NM_001018056.3:c.747C>T NP_001018066.1:p.Gly249= NC_000009.12:2643457:C:T p.(Gly249=) NC_000009.12:2643457:C:T p.(Gly249=) NC_000009.12:2643457:C:T Identity +NM_001004426.3:c.1953T>C NP_001004426.1:p.Cys651= NC_000022.11:38113573:A:G p.(Cys651=) NC_000022.11:38113573:A:G p.(Cys651=) NC_000022.11:38113573:A:G Identity +NM_000135.4:c.2946C>T NP_000126.2:p.Thr982= NC_000016.10:89758611:G:A p.(Thr982=) NC_000016.10:89758611:G:A p.(Thr982=) NC_000016.10:89758611:G:A Identity +NM_015909.4:c.720C>T NP_056993.2:p.Asn240= NC_000002.12:15534568:G:A p.(Asn240=) NC_000002.12:15534568:G:A p.(Asn240=) NC_000002.12:15534568:G:A Identity +NM_014639.4:c.3318A>G NP_055454.1:p.Val1106= NC_000005.10:95502902:T:C p.(Val1106=) NC_000005.10:95502902:T:C p.(Val1106=) NC_000005.10:95502902:T:C Identity +NM_001172435.2:c.2788A>C NP_001165906.1:p.Arg930= NC_000002.12:135168601:A:C p.(Arg930=) NC_000002.12:135168601:A:C p.(Arg930=) NC_000002.12:135168601:A:C Identity +NM_001305275.2:c.5187G>A NP_001292204.1:p.Leu1729= NC_000001.11:1050770:G:A p.(Leu1729=) NC_000001.11:1050770:G:A p.(Leu1729=) NC_000001.11:1050770:G:A Identity +NM_001291860.2:c.7752C>A NP_001278789.1:p.Ser2584= NC_000001.11:21848081:G:T p.(Ser2584=) NC_000001.11:21848081:G:T p.(Ser2584=) NC_000001.11:21848081:G:T Identity +NM_001040113.2:c.4824T>C NP_001035202.1:p.Tyr1608= NC_000016.10:15720300:A:G p.(Tyr1608=) NC_000016.10:15720300:A:G p.(Tyr1608=) NC_000016.10:15720300:A:G Identity +NM_001201543.2:c.150G>A NP_001188472.1:p.Glu50= NC_000002.12:61853891:C:T p.(Glu50=) NC_000002.12:61853891:C:T p.(Glu50=) NC_000002.12:61853891:C:T Identity +NM_001322019.2:c.279T>C NP_001308948.1:p.Tyr93= NC_000002.12:240021377:A:G p.(Tyr93=) NC_000002.12:240021377:A:G p.(Tyr93=) NC_000002.12:240021377:A:G Identity +NM_001170414.2:c.1563G>A NP_001163885.1:p.Ala521= NC_000009.12:69230192:G:A p.(Ala521=) NC_000009.12:69230192:G:A p.(Ala521=) NC_000009.12:69230192:G:A Identity +NM_139057.4:c.978T>C NP_620688.2:p.Val326= NC_000015.10:100261531:A:G p.(Val326=) NC_000015.10:100261531:A:G p.(Val326=) NC_000015.10:100261531:A:G Identity +NM_001004334.4:c.4770A>G NP_001004334.3:p.Thr1590= NC_000017.11:38328798:T:C p.(Thr1590=) NC_000017.11:38328798:T:C p.(Thr1590=) NC_000017.11:38328798:T:C Identity +NM_001199917.2:c.1416T>C NP_001186846.1:p.Tyr472= NC_000006.12:83171969:A:G p.(Tyr472=) NC_000006.12:83171969:A:G p.(Tyr472=) NC_000006.12:83171969:A:G Identity +NM_001278064.2:c.3129C>T NP_001264993.1:p.Thr1043= NC_000006.12:146434339:C:T p.(Thr1043=) NC_000006.12:146434339:C:T p.(Thr1043=) NC_000006.12:146434339:C:T Identity +NM_000209.4:c.177G>A NP_000200.1:p.Gln59= NC_000013.11:27920314:G:A p.(Gln59=) NC_000013.11:27920314:G:A p.(Gln59=) NC_000013.11:27920314:G:A Identity +NM_000693.4:c.876C>T NP_000684.2:p.Asp292= NC_000015.10:100898177:C:T p.(Asp292=) NC_000015.10:100898177:C:T p.(Asp292=) NC_000015.10:100898177:C:T Identity +NM_016156.6:c.114T>C NP_057240.3:p.His38= NC_000011.10:95888227:A:G p.(His38=) NC_000011.10:95888227:A:G p.(His38=) NC_000011.10:95888227:A:G Identity +NM_016239.4:c.2826C>A NP_057323.3:p.Pro942= NC_000017.11:18121625:C:A p.(Pro942=) NC_000017.11:18121625:C:A p.(Pro942=) NC_000017.11:18121625:C:A Identity +NM_015243.3:c.741C>T NP_056058.2:p.Ser247= NC_000008.11:99111257:C:T p.(Ser247=) NC_000008.11:99111257:C:T p.(Ser247=) NC_000008.11:99111257:C:T Identity +NM_001318520.2:c.1728A>G NP_001305449.1:p.Glu576= NC_000018.10:70075451:T:C p.(Glu576=) NC_000018.10:70075451:T:C p.(Glu576=) NC_000018.10:70075451:T:C Identity +NM_030928.4:c.972G>A NP_112190.2:p.Pro324= NC_000016.10:88806523:G:A p.(Pro324=) NC_000016.10:88806523:G:A p.(Pro324=) NC_000016.10:88806523:G:A Identity +NM_001308133.2:c.629_632del NP_001295062.1:p.Lys209_Cys210insTer NC_000014.9:45137187:TGTTT:T p.(Cys210Ter) NC_000014.9:45137187:TGTTT:T p.(Cys210Ter) NC_000014.9:45137188:GTTT: Analogous +NM_015346.4:c.1296G>A NP_056161.2:p.Leu432= NC_000014.9:67804239:C:T p.(Leu432=) NC_000014.9:67804239:C:T p.(Leu432=) NC_000014.9:67804239:C:T Identity +NM_001282587.2:c.1401C>T NP_001269516.1:p.Asp467= NC_000001.11:9263860:C:T p.(Asp467=) NC_000001.11:9263860:C:T p.(Asp467=) NC_000001.11:9263860:C:T Identity +NM_001172435.2:c.510C>T NP_001165906.1:p.His170= NC_000002.12:135115242:C:T p.(His170=) NC_000002.12:135115242:C:T p.(His170=) NC_000002.12:135115242:C:T Identity +NM_001379352.1:c.555C>T NP_001366281.1:p.Cys185= NC_000001.11:146019276:G:A p.(Cys185=) NC_000001.11:146019276:G:A p.(Cys185=) NC_000001.11:146019276:G:A Identity +NM_000288.4:c.564A>C NP_000279.1:p.Ala188= NC_000006.12:136866663:A:C p.(Ala188=) NC_000006.12:136866663:A:C p.(Ala188=) NC_000006.12:136866663:A:C Identity +NM_000466.3:c.3162C>A NP_000457.1:p.Ala1054= NC_000007.14:92492997:G:T p.(Ala1054=) NC_000007.14:92492997:G:T p.(Ala1054=) NC_000007.14:92492997:G:T Identity +NM_206933.4:c.8811C>T NP_996816.3:p.Asn2937= NC_000001.11:215867040:G:A p.(Asn2937=) NC_000001.11:215867040:G:A p.(Asn2937=) NC_000001.11:215867040:G:A Identity +NM_003880.4:c.117A>G NP_003871.1:p.Ser39= NC_000006.12:112061058:A:G p.(Ser39=) NC_000006.12:112061058:A:G p.(Ser39=) NC_000006.12:112061058:A:G Identity +NM_005876.5:c.4944G>C NP_005867.3:p.Leu1648= NC_000002.12:219478021:G:C p.(Leu1648=) NC_000002.12:219478021:G:C p.(Leu1648=) NC_000002.12:219478021:G:C Identity +NM_001376472.1:c.660T>C NP_001363401.1:p.Asp220= NC_000022.11:50074269:A:G p.(Asp220=) NC_000022.11:50074269:A:G p.(Asp220=) NC_000022.11:50074269:A:G Identity +NM_001287489.2:c.1422T>C NP_001274418.1:p.Tyr474= NC_000002.12:26482562:A:G p.(Tyr474=) NC_000002.12:26482562:A:G p.(Tyr474=) NC_000002.12:26482562:A:G Identity +NM_206933.4:c.12570G>T NP_996816.3:p.Val4190= NC_000001.11:215675340:C:A p.(Val4190=) NC_000001.11:215675340:C:A p.(Val4190=) NC_000001.11:215675340:C:A Identity +NM_004646.4:c.3447G>T NP_004637.1:p.Leu1149= NC_000019.10:35831086:C:A p.(Leu1149=) NC_000019.10:35831086:C:A p.(Leu1149=) NC_000019.10:35831086:C:A Identity +NM_000275.3:c.816C>T NP_000266.2:p.His272= NC_000015.10:28016177:G:A p.(His272=) NC_000015.10:28016177:G:A p.(His272=) NC_000015.10:28016177:G:A Identity +NM_000094.4:c.1833A>G NP_000085.1:p.Ala611= NC_000003.12:48590531:T:C p.(Ala611=) NC_000003.12:48590531:T:C p.(Ala611=) NC_000003.12:48590531:T:C Identity +NM_000277.3:c.834C>T NP_000268.1:p.Thr278= NC_000012.12:102852822:G:A p.(Thr278=) NC_000012.12:102852822:G:A p.(Thr278=) NC_000012.12:102852822:G:A Identity +NM_015346.4:c.3390G>A NP_056161.2:p.Gln1130= NC_000014.9:67785191:C:T p.(Gln1130=) NC_000014.9:67785191:C:T p.(Gln1130=) NC_000014.9:67785191:C:T Identity +NM_017890.5:c.7732_7747del NP_060360.3:p.Met2577_Ala2578insTer NC_000008.11:99778904:GATGGCAGTTTCCAGCGATG:GATG p.(Ala2578Ter) NC_000008.11:99778904:GATGGCAGTTTCCAGCGATG:GATG p.(Ala2578Ter) NC_000008.11:99778908:GCAGTTTCCAGCGATG: Analogous +NM_001127198.5:c.1476C>G NP_001120670.1:p.Val492= NC_000017.11:78121071:G:C p.(Val492=) NC_000017.11:78121071:G:C p.(Val492=) NC_000017.11:78121071:G:C Identity +NM_001206855.3:c.537C>G NP_001193784.1:p.Gly179= NC_000007.14:100631861:G:C p.(Gly179=) NC_000007.14:100631861:G:C p.(Gly179=) NC_000007.14:100631861:G:C Identity +NM_001386339.1:c.4392T>C NP_001373268.1:p.Tyr1464= NC_000011.10:9808146:A:G p.(Tyr1464=) NC_000011.10:9808146:A:G p.(Tyr1464=) NC_000011.10:9808146:A:G Identity +NM_001171930.2:c.687C>G NP_001165401.1:p.Val229= NC_000010.11:71570851:C:G p.(Val229=) NC_000010.11:71570851:C:G p.(Val229=) NC_000010.11:71570851:C:G Identity +NM_000082.4:c.30G>C NP_000073.1:p.Thr10= NC_000005.10:60944978:C:G p.(Thr10=) NC_000005.10:60944978:C:G p.(Thr10=) NC_000005.10:60944978:C:G Identity +NM_004525.3:c.5625C>T NP_004516.2:p.Gly1875= NC_000002.12:169220476:G:A p.(Gly1875=) NC_000002.12:169220476:G:A p.(Gly1875=) NC_000002.12:169220476:G:A Identity +NM_016239.4:c.888T>C NP_057323.3:p.Gly296= NC_000017.11:18119687:T:C p.(Gly296=) NC_000017.11:18119687:T:C p.(Gly296=) NC_000017.11:18119687:T:C Identity +NM_001113755.3:c.60G>T NP_001107227.1:p.Gly20= NC_000022.11:50529649:C:A p.(Gly20=) NC_000022.11:50529649:C:A p.(Gly20=) NC_000022.11:50529649:C:A Identity +NM_004525.3:c.6936A>C NP_004516.2:p.Pro2312= NC_000002.12:169206783:T:G p.(Pro2312=) NC_000002.12:169206783:T:G p.(Pro2312=) NC_000002.12:169206783:T:G Identity +NM_002907.4:c.1320T>G NP_002898.2:p.Leu440= NC_000012.12:21474875:A:C p.(Leu440=) NC_000012.12:21474875:A:C p.(Leu440=) NC_000012.12:21474875:A:C Identity +NM_017890.5:c.6306T>C NP_060360.3:p.Arg2102= NC_000008.11:99699708:T:C p.(Arg2102=) NC_000008.11:99699708:T:C p.(Arg2102=) NC_000008.11:99699708:T:C Identity +NM_001414.4:c.917A>G NP_001405.1:p.Ter306= NC_000012.12:123621756:T:C p.(Ter306=) NC_000012.12:123621756:T:C p.(Ter306Ter) NC_000012.12:123621756:T:C Identity +NM_001346083.2:c.2175A>T NP_001333012.1:p.Gly725= NC_000001.11:205069539:A:T p.(Gly725=) NC_000001.11:205069539:A:T p.(Gly725=) NC_000001.11:205069539:A:T Identity +NM_145200.5:c.276T>C NP_660201.1:p.Ser92= NC_000011.10:67455698:T:C p.(Ser92=) NC_000011.10:67455698:T:C p.(Ser92=) NC_000011.10:67455698:T:C Identity +NM_001346083.2:c.2337G>T NP_001333012.1:p.Arg779= NC_000001.11:205069966:G:T p.(Arg779=) NC_000001.11:205069966:G:T p.(Arg779=) NC_000001.11:205069966:G:T Identity +NM_001318193.2:c.324G>A NP_001305122.2:p.Glu108= NC_000016.10:2046157:C:T p.(Glu108=) NC_000016.10:2046157:C:T p.(Glu108=) NC_000016.10:2046157:C:T Identity +NM_000733.4:c.105A>G NP_000724.1:p.Pro35= NC_000011.10:118312618:A:G p.(Pro35=) NC_000011.10:118312618:A:G p.(Pro35=) NC_000011.10:118312618:A:G Identity +NM_001385.3:c.690G>C NP_001376.1:p.Thr230= NC_000008.11:104444350:C:G p.(Thr230=) NC_000008.11:104444350:C:G p.(Thr230=) NC_000008.11:104444350:C:G Identity +NM_015909.4:c.1941T>C NP_056993.2:p.Asp647= NC_000002.12:15467740:A:G p.(Asp647=) NC_000002.12:15467740:A:G p.(Asp647=) NC_000002.12:15467740:A:G Identity +NM_001310326.2:c.279G>A NP_001297255.1:p.Pro93= NC_000001.11:202333251:C:T p.(Pro93=) NC_000001.11:202333251:C:T p.(Pro93=) NC_000001.11:202333251:C:T Identity +NM_000026.4:c.132G>T NP_000017.1:p.Leu44= NC_000022.11:40346689:G:T p.(Leu44=) NC_000022.11:40346689:G:T p.(Leu44=) NC_000022.11:40346689:G:T Identity +NM_206933.4:c.8514G>A NP_996816.3:p.Val2838= NC_000001.11:215878807:C:T p.(Val2838=) NC_000001.11:215878807:C:T p.(Val2838=) NC_000001.11:215878807:C:T Identity +NM_015243.3:c.1770G>T NP_056058.2:p.Ala590= NC_000008.11:99143091:G:T p.(Ala590=) NC_000008.11:99143091:G:T p.(Ala590=) NC_000008.11:99143091:G:T Identity +NM_001122769.3:c.1137A>G NP_001116241.1:p.Ala379= NC_000006.12:79489177:T:C p.(Ala379=) NC_000006.12:79489177:T:C p.(Ala379=) NC_000006.12:79489177:T:C Identity +NM_001145293.2:c.1596T>C NP_001138765.1:p.Tyr532= NC_000003.12:25720152:A:G p.(Tyr532=) NC_000003.12:25720152:A:G p.(Tyr532=) NC_000003.12:25720152:A:G Identity +NM_024577.4:c.2253A>G NP_078853.2:p.Ala751= NC_000005.10:149027478:T:C p.(Ala751=) NC_000005.10:149027478:T:C p.(Ala751=) NC_000005.10:149027478:T:C Identity +NM_002439.5:c.1221C>T NP_002430.3:p.Asp407= NC_000005.10:80678973:C:T p.(Asp407=) NC_000005.10:80678973:C:T p.(Asp407=) NC_000005.10:80678973:C:T Identity +NM_014639.4:c.4578A>T NP_055454.1:p.Leu1526= NC_000005.10:95467907:T:A p.(Leu1526=) NC_000005.10:95467907:T:A p.(Leu1526=) NC_000005.10:95467907:T:A Identity +NM_001374294.1:c.828C>T NP_001361223.1:p.His276= NC_000002.12:219505529:C:T p.(His276=) NC_000002.12:219505529:C:T p.(His276=) NC_000002.12:219505529:C:T Identity +NM_173551.5:c.765C>T NP_775822.3:p.Ser255= NC_000009.12:98790200:G:A p.(Ser255=) NC_000009.12:98790200:G:A p.(Ser255=) NC_000009.12:98790200:G:A Identity +NM_015909.4:c.1854A>C NP_056993.2:p.Ile618= NC_000002.12:15468404:T:G p.(Ile618=) NC_000002.12:15468404:T:G p.(Ile618=) NC_000002.12:15468404:T:G Identity +NM_001411067.1:c.2280C>T NP_001397996.1:p.Ala760= NC_000017.11:8232007:G:A p.(Ala760=) NC_000017.11:8232007:G:A p.(Ala760=) NC_000017.11:8232007:G:A Identity +NM_001177701.3:c.459C>G NP_001171172.1:p.Ser153= NC_000022.11:36762906:G:C p.(Ser153=) NC_000022.11:36762906:G:C p.(Ser153=) NC_000022.11:36762906:G:C Identity +NM_001040610.3:c.1269T>C NP_001035700.1:p.Cys423= NC_000015.10:82220099:A:G p.(Cys423=) NC_000015.10:82220099:A:G p.(Cys423=) NC_000015.10:82220099:A:G Identity +NM_001384732.1:c.4509A>G NP_001371661.1:p.Thr1503= NC_000005.10:37183671:T:C p.(Thr1503=) NC_000005.10:37183671:T:C p.(Thr1503=) NC_000005.10:37183671:T:C Identity +NM_006397.3:c.801G>A NP_006388.2:p.Lys267= NC_000019.10:12813366:G:A p.(Lys267=) NC_000019.10:12813366:G:A p.(Lys267=) NC_000019.10:12813366:G:A Identity +NM_005876.5:c.1695G>C NP_005867.3:p.Gly565= NC_000002.12:219448852:G:C p.(Gly565=) NC_000002.12:219448852:G:C p.(Gly565=) NC_000002.12:219448852:G:C Identity +NM_001042413.2:c.705T>C NP_001035878.1:p.Pro235= NC_000009.12:4118772:A:G p.(Pro235=) NC_000009.12:4118772:A:G p.(Pro235=) NC_000009.12:4118772:A:G Identity +NM_001195794.1:c.402C>T NP_001182723.1:p.Pro134= NC_000003.12:150941612:G:A p.(Pro134=) NC_000003.12:150941612:G:A p.(Pro134=) NC_000003.12:150941612:G:A Identity +NM_004525.3:c.8925T>C NP_004516.2:p.Asp2975= NC_000002.12:169191938:A:G p.(Asp2975=) NC_000002.12:169191938:A:G p.(Asp2975=) NC_000002.12:169191938:A:G Identity +NM_001291860.2:c.7146C>G NP_001278789.1:p.Leu2382= NC_000001.11:21851560:G:C p.(Leu2382=) NC_000001.11:21851560:G:C p.(Leu2382=) NC_000001.11:21851560:G:C Identity +NM_000732.6:c.345T>C NP_000723.1:p.Thr115= NC_000011.10:118339835:A:G p.(Thr115=) NC_000011.10:118339835:A:G p.(Thr115=) NC_000011.10:118339835:A:G Identity +NM_000254.3:c.1617T>C NP_000245.2:p.Asn539= NC_000001.11:236850444:T:C p.(Asn539=) NC_000001.11:236850444:T:C p.(Asn539=) NC_000001.11:236850444:T:C Identity +NM_001393363.1:c.318G>T NP_001380292.1:p.Leu106= NC_000003.12:33114394:G:T p.(Leu106=) NC_000003.12:33114394:G:T p.(Leu106=) NC_000003.12:33114394:G:T Identity +NM_006208.3:c.1893G>A NP_006199.2:p.Ser631= NC_000006.12:131877160:G:A p.(Ser631=) NC_000006.12:131877160:G:A p.(Ser631=) NC_000006.12:131877160:G:A Identity +NM_001080463.2:c.9346T>C NP_001073932.1:p.Leu3116= NC_000011.10:103223078:T:C p.(Leu3116=) NC_000011.10:103223078:T:C p.(Leu3116=) NC_000011.10:103223078:T:C Identity +NM_001330174.3:c.864G>A NP_001317103.1:p.Gly288= NC_000010.11:123053101:G:A p.(Gly288=) NC_000010.11:123053101:G:A p.(Gly288=) NC_000010.11:123053101:G:A Identity +LRG_1041t2:c.1743T>C LRG_1041p2:p.Arg581= NC_000008.11:140300493:A:G ERR:Data provider error: ValueError: Transcript LRG_1041t2 not found ERR:Data provider error: ValueError: Transcript LRG_1041t2 not found ERR:AlignmentMapper(tx_ac=LRG_1041t2, alt_ac=LRG_1041t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1041t2, alt_ac=LRG_1041t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1041t2 not found +NM_000211.5:c.2061C>T NP_000202.3:p.Ile687= NC_000021.9:44888711:G:A p.(Ile687=) NC_000021.9:44888711:G:A p.(Ile687=) NC_000021.9:44888711:G:A Identity +NM_001080976.3:c.276G>A NP_001074445.1:p.Lys92= NC_000006.12:116399525:G:A p.(Lys92=) NC_000006.12:116399525:G:A p.(Lys92=) NC_000006.12:116399525:G:A Identity +NM_002299.4:c.2307C>T NP_002290.2:p.Ser769= NC_000002.12:135812356:G:A p.(Ser769=) NC_000002.12:135812356:G:A p.(Ser769=) NC_000002.12:135812356:G:A Identity +NM_001081.4:c.2727A>G NP_001072.2:p.Thr909= NC_000010.11:17068668:T:C p.(Thr909=) NC_000010.11:17068668:T:C p.(Thr909=) NC_000010.11:17068668:T:C Identity +NM_015072.5:c.2452C>T NP_055887.3:p.Leu818= NC_000014.9:75779638:C:T p.(Leu818=) NC_000014.9:75779638:C:T p.(Leu818=) NC_000014.9:75779638:C:T Identity +NM_000395.3:c.208C>T NP_000386.1:p.Leu70= NC_000022.11:36925993:C:T p.(Leu70=) NC_000022.11:36925993:C:T p.(Leu70=) NC_000022.11:36925993:C:T Identity +NM_001014763.1:c.627C>T NP_001014763.1:p.Asp209= NC_000019.10:51353152:G:A p.(Asp209=) NC_000019.10:51353152:G:A p.(Asp209=) NC_000019.10:51353152:G:A Identity +NM_001145293.2:c.1578A>G NP_001138765.1:p.Glu526= NC_000003.12:25720170:T:C p.(Glu526=) NC_000003.12:25720170:T:C p.(Glu526=) NC_000003.12:25720170:T:C Identity +NM_001289905.2:c.1899C>T NP_001276834.1:p.Thr633= NC_000022.11:17109219:C:T p.(Thr633=) NC_000022.11:17109219:C:T p.(Thr633=) NC_000022.11:17109219:C:T Identity +NM_001288781.1:c.705T>C NP_001275710.1:p.His235= NC_000014.9:88853002:T:C p.(His235=) NC_000014.9:88853002:T:C p.(His235=) NC_000014.9:88853002:T:C Identity +NM_032119.4:c.17634A>G NP_115495.3:p.Glu5878= NC_000005.10:90855779:A:G p.(Glu5878=) NC_000005.10:90855779:A:G p.(Glu5878=) NC_000005.10:90855779:A:G Identity +NM_000547.6:c.432C>T NP_000538.3:p.Asn144= NC_000002.12:1436333:C:T p.(Asn144=) NC_000002.12:1436333:C:T p.(Asn144=) NC_000002.12:1436333:C:T Identity +NM_001189.4:c.111G>C NP_001180.1:p.Gly37= NC_000004.12:13544303:C:G p.(Gly37=) NC_000004.12:13544303:C:G p.(Gly37=) NC_000004.12:13544303:C:G Identity +NM_005262.3:c.114C>T NP_005253.3:p.Gly38= NC_000016.10:1984331:C:T p.(Gly38=) NC_000016.10:1984331:C:T p.(Gly38=) NC_000016.10:1984331:C:T Identity +NM_001102564.3:c.403C>T NP_001096034.1:p.Leu135= NC_000014.9:76082650:C:T p.(Leu135=) NC_000014.9:76082650:C:T p.(Leu135=) NC_000014.9:76082650:C:T Identity +NM_001252020.2:c.3864T>G NP_001238949.1:p.Ala1288= NC_000015.10:31002886:A:C p.(Ala1288=) NC_000015.10:31002886:A:C p.(Ala1288=) NC_000015.10:31002886:A:C Identity +NM_001289000.2:c.768G>A NP_001275929.1:p.Leu256= NC_000022.11:37089645:C:T p.(Leu256=) NC_000022.11:37089645:C:T p.(Leu256=) NC_000022.11:37089645:C:T Identity +NM_002485.5:c.54T>C NP_002476.2:p.Leu18= NC_000008.11:89982838:A:G p.(Leu18=) NC_000008.11:89982838:A:G p.(Leu18=) NC_000008.11:89982838:A:G Identity +NM_000159.4:c.1032C>T NP_000150.1:p.Thr344= NC_000019.10:12897377:C:T p.(Thr344=) NC_000019.10:12897377:C:T p.(Thr344=) NC_000019.10:12897377:C:T Identity +NM_139242.4:c.441C>G NP_640335.2:p.Pro147= NC_000015.10:65023772:G:C p.(Pro147=) NC_000015.10:65023772:G:C p.(Pro147=) NC_000015.10:65023772:G:C Identity +NM_014639.4:c.1842C>T NP_055454.1:p.Tyr614= NC_000005.10:95522222:G:A p.(Tyr614=) NC_000005.10:95522222:G:A p.(Tyr614=) NC_000005.10:95522222:G:A Identity +NM_001173431.2:c.3864G>A NP_001166902.1:p.Glu1288= NC_000002.12:219557544:C:T p.(Glu1288=) NC_000002.12:219557544:C:T p.(Glu1288=) NC_000002.12:219557544:C:T Identity +NM_001079911.3:c.702C>T NP_001073380.1:p.Asn234= NC_000004.12:87662527:C:T p.(Asn234=) NC_000004.12:87662527:C:T p.(Asn234=) NC_000004.12:87662527:C:T Identity +NM_000843.4:c.2382C>T NP_000834.2:p.Ile794= NC_000005.10:178982963:G:A p.(Ile794=) NC_000005.10:178982963:G:A p.(Ile794=) NC_000005.10:178982963:G:A Identity +NM_001142763.2:c.4872C>T NP_001136235.1:p.Asn1624= NC_000010.11:53822874:G:A p.(Asn1624=) NC_000010.11:53822874:G:A p.(Asn1624=) NC_000010.11:53822874:G:A Identity +NM_001170414.2:c.3027T>C NP_001163885.1:p.Tyr1009= NC_000009.12:69254337:T:C p.(Tyr1009=) NC_000009.12:69254337:T:C p.(Tyr1009=) NC_000009.12:69254337:T:C Identity +NM_001410876.1:c.141C>G NP_001397805.1:p.Leu47= NC_000006.12:35452685:C:G p.(Leu47=) NC_000006.12:35452685:C:G p.(Leu47=) NC_000006.12:35452685:C:G Identity +NM_004629.2:c.907C>T NP_004620.1:p.Leu303= NC_000009.12:35076740:G:A p.(Leu303=) NC_000009.12:35076740:G:A p.(Leu303=) NC_000009.12:35076740:G:A Identity +NM_001291860.2:c.10332T>C NP_001278789.1:p.Gly3444= NC_000001.11:21836827:A:G p.(Gly3444=) NC_000001.11:21836827:A:G p.(Gly3444=) NC_000001.11:21836827:A:G Identity +NM_018136.5:c.6645A>C NP_060606.3:p.Ile2215= NC_000001.11:197102605:T:G p.(Ile2215=) NC_000001.11:197102605:T:G p.(Ile2215=) NC_000001.11:197102605:T:G Identity +NM_001084.5:c.1101C>T NP_001075.1:p.Ser367= NC_000007.14:101212278:G:A p.(Ser367=) NC_000007.14:101212278:G:A p.(Ser367=) NC_000007.14:101212278:G:A Identity +NM_001346083.2:c.750T>C NP_001333012.1:p.Tyr250= NC_000001.11:205059634:T:C p.(Tyr250=) NC_000001.11:205059634:T:C p.(Tyr250=) NC_000001.11:205059634:T:C Identity +NM_001365308.1:c.966T>C NP_001352237.1:p.Cys322= NC_000007.14:34058096:T:C p.(Cys322=) NC_000007.14:34058096:T:C p.(Cys322=) NC_000007.14:34058096:T:C Identity +NM_001329903.2:c.219C>T NP_001316832.1:p.Ser73= NC_000017.11:1769985:C:T p.(Ser73=) NC_000017.11:1769985:C:T p.(Ser73=) NC_000017.11:1769985:C:T Identity +NM_022124.6:c.6369G>C NP_071407.4:p.Gly2123= NC_000010.11:71793296:G:C p.(Gly2123=) NC_000010.11:71793296:G:C p.(Gly2123=) NC_000010.11:71793296:G:C Identity +NM_001080467.3:c.252A>C NP_001073936.1:p.Ala84= NC_000018.10:50040200:T:G p.(Ala84=) NC_000018.10:50040200:T:G p.(Ala84=) NC_000018.10:50040200:T:G Identity +NM_001291860.2:c.4170A>G NP_001278789.1:p.Gln1390= NC_000001.11:21872239:T:C p.(Gln1390=) NC_000001.11:21872239:T:C p.(Gln1390=) NC_000001.11:21872239:T:C Identity +NM_001079911.3:c.1347T>C NP_001073380.1:p.Asp449= NC_000004.12:87663172:T:C p.(Asp449=) NC_000004.12:87663172:T:C p.(Asp449=) NC_000004.12:87663172:T:C Identity +NM_001308164.2:c.2046A>G NP_001295093.1:p.Gln682= NC_000003.12:158690241:A:G p.(Gln682=) NC_000003.12:158690241:A:G p.(Gln682=) NC_000003.12:158690241:A:G Identity +NM_003647.3:c.1419C>T NP_003638.1:p.Asp473= NC_000017.11:56862145:C:T p.(Asp473=) NC_000017.11:56862145:C:T p.(Asp473=) NC_000017.11:56862145:C:T Identity +NM_001363850.1:c.1806C>T NP_001350779.1:p.Ala602= NC_000016.10:89553004:C:T p.(Ala602=) NC_000016.10:89553004:C:T p.(Ala602=) NC_000016.10:89553004:C:T Identity +NM_000130.5:c.4878C>T NP_000121.2:p.Ser1626= NC_000001.11:169536598:G:A p.(Ser1626=) NC_000001.11:169536598:G:A p.(Ser1626=) NC_000001.11:169536598:G:A Identity +NM_015311.3:c.4662G>A NP_056126.1:p.Gly1554= NC_000002.12:219554687:C:T p.(Gly1554=) NC_000002.12:219554687:C:T p.(Gly1554=) NC_000002.12:219554687:C:T Identity +NM_001081.4:c.4275C>T NP_001072.2:p.Pro1425= NC_000010.11:16990408:G:A p.(Pro1425=) NC_000010.11:16990408:G:A p.(Pro1425=) NC_000010.11:16990408:G:A Identity +NM_004525.3:c.5259A>G NP_004516.2:p.Gln1753= NC_000002.12:169226556:T:C p.(Gln1753=) NC_000002.12:169226556:T:C p.(Gln1753=) NC_000002.12:169226556:T:C Identity +NM_001261406.2:c.225C>T NP_001248335.1:p.Ala75= NC_000009.12:13224541:G:A p.(Ala75=) NC_000009.12:13224541:G:A p.(Ala75=) NC_000009.12:13224541:G:A Identity +NM_001080976.3:c.378C>T NP_001074445.1:p.Ala126= NC_000006.12:116399627:C:T p.(Ala126=) NC_000006.12:116399627:C:T p.(Ala126=) NC_000006.12:116399627:C:T Identity +NM_000436.4:c.900C>T NP_000427.1:p.Asp300= NC_000005.10:41805621:G:A p.(Asp300=) NC_000005.10:41805621:G:A p.(Asp300=) NC_000005.10:41805621:G:A Identity +NM_001172818.1:c.1608C>T NP_001166289.1:p.Ile536= NC_000001.11:63654420:C:T p.(Ile536=) NC_000001.11:63654420:C:T p.(Ile536=) NC_000001.11:63654420:C:T Identity +NM_138477.4:c.111C>G NP_612486.2:p.Ala37= NC_000015.10:42736759:G:C p.(Ala37=) NC_000015.10:42736759:G:C p.(Ala37=) NC_000015.10:42736759:G:C Identity +NM_005876.5:c.3022C>T NP_005867.3:p.Leu1008= NC_000002.12:219467313:C:T p.(Leu1008=) NC_000002.12:219467313:C:T p.(Leu1008=) NC_000002.12:219467313:C:T Identity +NM_130466.4:c.1686T>C NP_569733.2:p.Thr562= NC_000012.12:109509658:T:C p.(Thr562=) NC_000012.12:109509658:T:C p.(Thr562=) NC_000012.12:109509658:T:C Identity +NM_001271985.2:c.72C>T NP_001258914.1:p.Asn24= NC_000011.10:125895471:G:A p.(Asn24=) NC_000011.10:125895471:G:A p.(Asn24=) NC_000011.10:125895471:G:A Identity +NM_001326358.2:c.3018A>G NP_001313287.1:p.Pro1006= NC_000016.10:77289279:T:C p.(Pro1006=) NC_000016.10:77289279:T:C p.(Pro1006=) NC_000016.10:77289279:T:C Identity +NM_001303.4:c.1050G>A NP_001294.2:p.Pro350= NC_000017.11:14206930:G:A p.(Pro350=) NC_000017.11:14206930:G:A p.(Pro350=) NC_000017.11:14206930:G:A Identity +NM_001142777.2:c.522C>T NP_001136249.1:p.Asn174= NC_000016.10:30986694:C:T p.(Asn174=) NC_000016.10:30986694:C:T p.(Asn174=) NC_000016.10:30986694:C:T Identity +NM_001142800.2:c.5535T>C NP_001136272.1:p.Ser1845= NC_000006.12:64590331:A:G p.(Ser1845=) NC_000006.12:64590331:A:G p.(Ser1845=) NC_000006.12:64590331:A:G Identity +NM_000130.5:c.3633G>A NP_000121.2:p.Thr1211= NC_000001.11:169541456:C:T p.(Thr1211=) NC_000001.11:169541456:C:T p.(Thr1211=) NC_000001.11:169541456:C:T Identity +NM_018136.5:c.6441A>G NP_060606.3:p.Gln2147= NC_000001.11:197102809:T:C p.(Gln2147=) NC_000001.11:197102809:T:C p.(Gln2147=) NC_000001.11:197102809:T:C Identity +NM_001081.4:c.10269T>C NP_001072.2:p.Val3423= NC_000010.11:16835106:A:G p.(Val3423=) NC_000010.11:16835106:A:G p.(Val3423=) NC_000010.11:16835106:A:G Identity +NM_002299.4:c.2580A>G NP_002290.2:p.Thr860= NC_000002.12:135809766:T:C p.(Thr860=) NC_000002.12:135809766:T:C p.(Thr860=) NC_000002.12:135809766:T:C Identity +LRG_1094t1:c.378C>A LRG_1094p1:p.Ala126= NC_000009.12:114504423:G:T ERR:Data provider error: ValueError: Transcript LRG_1094t1 not found ERR:Data provider error: ValueError: Transcript LRG_1094t1 not found ERR:AlignmentMapper(tx_ac=LRG_1094t1, alt_ac=LRG_1094t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1094t1, alt_ac=LRG_1094t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1094t1 not found +NM_001042413.2:c.1257C>A NP_001035878.1:p.Gly419= NC_000009.12:4118220:G:T p.(Gly419=) NC_000009.12:4118220:G:T p.(Gly419=) NC_000009.12:4118220:G:T Identity +NM_001291860.2:c.5817C>T NP_001278789.1:p.Ser1939= NC_000001.11:21855562:G:A p.(Ser1939=) NC_000001.11:21855562:G:A p.(Ser1939=) NC_000001.11:21855562:G:A Identity +NM_030777.4:c.774C>T NP_110404.1:p.Phe258= NC_000020.11:46725809:C:T p.(Phe258=) NC_000020.11:46725809:C:T p.(Phe258=) NC_000020.11:46725809:C:T Identity +NM_001270449.2:c.481C>T NP_001257378.1:p.Leu161= NC_000012.12:109488604:C:T p.(Leu161=) NC_000012.12:109488604:C:T p.(Leu161=) NC_000012.12:109488604:C:T Identity +NM_032119.4:c.5118G>A NP_115495.3:p.Leu1706= NC_000005.10:90675249:G:A p.(Leu1706=) NC_000005.10:90675249:G:A p.(Leu1706=) NC_000005.10:90675249:G:A Identity +NM_173560.4:c.750T>G NP_775831.2:p.Leu250= NC_000006.12:116911011:T:G p.(Leu250=) NC_000006.12:116911011:T:G p.(Leu250=) NC_000006.12:116911011:T:G Identity +NM_001171933.1:c.450G>A NP_001165404.1:p.Leu150= NC_000010.11:71799225:G:A p.(Leu150=) NC_000010.11:71799225:G:A p.(Leu150=) NC_000010.11:71799225:G:A Identity +NM_000277.3:c.33G>A NP_000268.1:p.Leu11= NC_000012.12:102917097:C:T p.(Leu11=) NC_000012.12:102917097:C:T p.(Leu11=) NC_000012.12:102917097:C:T Identity +NM_030943.4:c.10C>T NP_112205.2:p.Leu4= NC_000014.9:102922697:C:T p.(Leu4=) NC_000014.9:102922697:C:T p.(Leu4=) NC_000014.9:102922697:C:T Identity +NM_000122.2:c.492A>G NP_000113.1:p.Gly164= NC_000002.12:127290252:T:C p.(Gly164=) NC_000002.12:127290252:T:C p.(Gly164=) NC_000002.12:127290252:T:C Identity +NM_017890.5:c.11685C>G NP_060360.3:p.Leu3895= NC_000008.11:99871561:C:G p.(Leu3895=) NC_000008.11:99871561:C:G p.(Leu3895=) NC_000008.11:99871561:C:G Identity +NM_001173408.2:c.2934C>T NP_001166879.1:p.Ser978= NC_000002.12:219562420:G:A p.(Ser978=) NC_000002.12:219562420:G:A p.(Ser978=) NC_000002.12:219562420:G:A Identity +NM_000195.5:c.1794C>T NP_000186.2:p.Thr598= NC_000010.11:98420107:G:A p.(Thr598=) NC_000010.11:98420107:G:A p.(Thr598=) NC_000010.11:98420107:G:A Identity +NM_001353210.3:c.1293A>G NP_001340139.1:p.Glu431= NC_000018.10:49258448:T:C p.(Glu431=) NC_000018.10:49258448:T:C p.(Glu431=) NC_000018.10:49258448:T:C Identity +NM_024753.5:c.3612T>C NP_079029.3:p.Ala1204= NC_000002.12:165883865:A:G p.(Ala1204=) NC_000002.12:165883865:A:G p.(Ala1204=) NC_000002.12:165883865:A:G Identity +NM_001006657.2:c.1506C>T NP_001006658.1:p.Gly502= NC_000002.12:19948214:G:A p.(Gly502=) NC_000002.12:19948214:G:A p.(Gly502=) NC_000002.12:19948214:G:A Identity +NM_001006657.2:c.3465C>T NP_001006658.1:p.Cys1155= NC_000002.12:19913638:G:A p.(Cys1155=) NC_000002.12:19913638:G:A p.(Cys1155=) NC_000002.12:19913638:G:A Identity +NM_001127649.3:c.33C>A NP_001121121.1:p.Pro11= NC_000022.11:18078408:C:A p.(Pro11=) NC_000022.11:18078408:C:A p.(Pro11=) NC_000022.11:18078408:C:A Identity +NM_001006657.2:c.402T>C NP_001006658.1:p.Tyr134= NC_000002.12:19978784:A:G p.(Tyr134=) NC_000002.12:19978784:A:G p.(Tyr134=) NC_000002.12:19978784:A:G Identity +NM_001006657.2:c.2280G>A NP_001006658.1:p.Thr760= NC_000002.12:19937762:C:T p.(Thr760=) NC_000002.12:19937762:C:T p.(Thr760=) NC_000002.12:19937762:C:T Identity +NM_018238.4:c.1122T>C NP_060708.1:p.Leu374= NC_000007.14:141651599:T:C p.(Leu374=) NC_000007.14:141651599:T:C p.(Leu374=) NC_000007.14:141651599:T:C Identity +NM_024753.5:c.1482A>C NP_079029.3:p.Thr494= NC_000002.12:165924582:T:G p.(Thr494=) NC_000002.12:165924582:T:G p.(Thr494=) NC_000002.12:165924582:T:G Identity +NM_001077416.2:c.372C>A NP_001070884.2:p.Ala124= NC_000016.10:75555899:G:T p.(Ala124=) NC_000016.10:75555899:G:T p.(Ala124=) NC_000016.10:75555899:G:T Identity +NM_198525.3:c.1869AGAGGAGGA[1] NP_940927.2:p.Glu629_Glu631del NC_000015.10:89645928:TCCTCCTCTTCCTCCTCT:TCCTCCTCT p.(Glu629_Glu631del) NC_000015.10:89645945:T:TCCTCCTCT ERR:Parse ERR:Parse Identity +NM_000056.5:c.1017G>A NP_000047.1:p.Ser339= NC_000006.12:80273199:G:A p.(Ser339=) NC_000006.12:80273199:G:A p.(Ser339=) NC_000006.12:80273199:G:A Identity +NM_001242466.2:c.268_273del NP_001229395.1:p.Asn90_Thr91del NC_000005.10:68293764:TAACACT:T p.(Asn90_Thr91del) NC_000005.10:68293764:TAACACT:T p.(Asn90_Thr91del) NC_000005.10:68293765:AACACT: Identity +LRG_655t1:c.661_684dup LRG_655p1:p.Gly228_Gly229insSerGlyGlyGlyGlyGlyGlyGly NC_000016.10:31185072:GGCAGTGGTGGCGGCGGCGGCGGCGGC:GGCAGTGGTGGCGGCGGCGGCGGCGGCAGTGGTGGCGGCGGCGGCGGCGGC ERR:Data provider error: ValueError: Transcript LRG_655t1 not found ERR:Data provider error: ValueError: Transcript LRG_655t1 not found ERR:AlignmentMapper(tx_ac=LRG_655t1, alt_ac=LRG_655t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_655t1, alt_ac=LRG_655t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_655t1 not found +NM_000937.5:c.1735_1751dup NP_000928.1:p.Pro584_Leu585insSerTer NC_000017.11:7500695:CCGGCCATCCTAAAGCCCCGGCC:CCGGCCATCCTAAAGCCCCGGCCATCCTAAAGCCCCGGCC p.(Leu585SerfsTer2) NC_000017.11:7500695:CCGGCCATCCTAAAGCCCCGGCC:CCGGCCATCCTAAAGCCCCGGCCATCCTAAAGCCCCGGCC p.(Leu585SerfsTer2) ERR:SPDI Analogous +NM_012213.3:c.680_685dup NP_036345.2:p.Lys228_Arg229insLeuLys NC_000016.10:83908163:TGAAGC:TGAAGCTGAAGC p.(Lys228_Arg229insLeuLys) NC_000016.10:83908163:TGAAGC:TGAAGCTGAAGC p.(Lys228_Arg229insLeuLys) ERR:SPDI Identity +NM_000744.7:c.1425C>T NP_000735.1:p.Gly475= NC_000020.11:63349985:G:A p.(Gly475=) NC_000020.11:63349985:G:A p.(Gly475=) NC_000020.11:63349985:G:A Identity +NM_001110792.2:c.1192_1233del NP_001104262.1:p.Leu398_Pro411del NC_000023.11:154030630:GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG:GGG p.(Leu398_Pro411del) NC_000023.11:154030630:GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG:GGG p.(Leu398_Pro411del) NC_000023.11:154030630:GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG: Identity +NM_001110792.2:c.1035G>T NP_001104262.1:p.Gly345= NC_000023.11:154030828:C:A p.(Gly345=) NC_000023.11:154030828:C:A p.(Gly345=) NC_000023.11:154030828:C:A Identity +NM_018451.5:c.1908C>G NP_060921.3:p.Arg636= NC_000013.11:24906129:G:C p.(Arg636=) NC_000013.11:24906129:G:C p.(Arg636=) NC_000013.11:24906129:G:C Identity +LRG_429t1:c.536G>T LRG_429p1:p.Arg179Leu NC_000001.11:229432349:C:A ERR:Data provider error: ValueError: Transcript LRG_429t1 not found ERR:Data provider error: ValueError: Transcript LRG_429t1 not found ERR:AlignmentMapper(tx_ac=LRG_429t1, alt_ac=LRG_429t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_429t1, alt_ac=LRG_429t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_429t1 not found +NM_000277.3:c.1155C>G NP_000268.1:p.Leu385= NC_000012.12:102843689:G:C p.(Leu385=) NC_000012.12:102843689:G:C p.(Leu385=) NC_000012.12:102843689:G:C Identity +NM_001110792.2:c.1374_1379del NP_001104262.1:p.Ala459_Glu460del NC_000023.11:154030484:TCTGCG: p.(Ala459_Glu460del) NC_000023.11:154030484:TCTGCG: p.(Ala459_Glu460del) NC_000023.11:154030484:TCTGCG: Identity +NM_001110792.2:c.48C>T NP_001104262.1:p.Gly16= NC_000023.11:154097617:G:A p.(Gly16=) NC_000023.11:154097617:G:A p.(Gly16=) NC_000023.11:154097617:G:A Identity +NM_000543.5:c.107_124del NP_000534.3:p.Val36_Leu41del NC_000011.10:6390700:CTGGTGCTGGCGCTGGCGCTGG:CTGG p.(Val36_Leu41del) NC_000011.10:6390700:CTGGTGCTGGCGCTGGCGCTGG:CTGG p.(Val36_Leu41del) NC_000011.10:6390704:TGCTGGCGCTGGCGCTGG: Identity +NM_001291867.2:c.147C>T NP_001278796.1:p.Val49= NC_000023.11:17375903:C:T p.(Val49=) NC_000023.11:17375903:C:T p.(Val49=) NC_000023.11:17375903:C:T Identity +NM_001001329.3:c.987GGA[6] NP_001001329.1:p.Glu333dup NC_000019.10:11447573:GAGGAGGAGGAGGAGGA:GAGGAGGAGGAGGAGGAGGA p.(Glu333dup) NC_000019.10:11447575:G:GGAGGAGGAGGAGGAGGA ERR:Parse ERR:Parse Identity +NM_000425.5:c.1962C>T NP_000416.1:p.Asp654= NC_000023.11:153867530:G:A p.(Asp654=) NC_000023.11:153867530:G:A p.(Asp654=) NC_000023.11:153867530:G:A Identity +NM_001038.6:c.216C>T NP_001029.1:p.Ile72= NC_000012.12:6374567:G:A p.(Ile72=) NC_000012.12:6374567:G:A p.(Ile72=) NC_000012.12:6374567:G:A Identity +NM_001126054.3:c.159G>T NP_001119526.1:p.Gly53= NC_000023.11:41853127:C:A p.(Gly53=) NC_000023.11:41853127:C:A p.(Gly53=) NC_000023.11:41853127:C:A Identity +NM_000426.4:c.3645A>G NP_000417.3:p.Pro1215= NC_000006.12:129315564:A:G p.(Pro1215=) NC_000006.12:129315564:A:G p.(Pro1215=) NC_000006.12:129315564:A:G Identity +NM_000601.6:c.270T>C NP_000592.3:p.Asp90= NC_000007.14:81758788:A:G p.(Asp90=) NC_000007.14:81758788:A:G p.(Asp90=) NC_000007.14:81758788:A:G Identity +NM_001996.4:c.279G>T NP_001987.3:p.Thr93= NC_000022.11:45525635:G:T p.(Thr93=) NC_000022.11:45525635:G:T p.(Thr93=) NC_000022.11:45525635:G:T Identity +NM_005045.4:c.6969G>A NP_005036.2:p.Leu2323= NC_000007.14:103539288:C:T p.(Leu2323=) NC_000007.14:103539288:C:T p.(Leu2323=) NC_000007.14:103539288:C:T Identity +LRG_1191t1:c.1101C>T LRG_1191p1:p.Thr367= NC_000020.11:10651599:G:A ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_004369.4:c.3138G>T NP_004360.2:p.Leu1046= NC_000002.12:237374952:C:A p.(Leu1046=) NC_000002.12:237374952:C:A p.(Leu1046=) NC_000002.12:237374952:C:A Identity +NM_000540.3:c.13851A>G NP_000531.2:p.Gly4617= NC_000019.10:38572122:A:G p.(Gly4617=) NC_000019.10:38572122:A:G p.(Gly4617=) NC_000019.10:38572122:A:G Identity +NM_001354989.2:c.2496C>G NP_001341918.1:p.Ser832= NC_000005.10:180620218:G:C p.(Ser832=) NC_000005.10:180620218:G:C p.(Ser832=) NC_000005.10:180620218:G:C Identity +NM_007348.4:c.797dup NP_031374.2:p.Pro266_Asn267insTer NC_000001.11:161802157:CCC:CCCC p.(Asn267Ter) NC_000001.11:161802157:CCC:CCCC p.(Asn267Ter) ERR:SPDI Analogous +NM_001039885.3:c.1140G>A NP_001034974.1:p.Gly380= NC_000019.10:46756589:G:A p.(Gly380=) NC_000019.10:46756589:G:A p.(Gly380=) NC_000019.10:46756589:G:A Identity +NM_001145408.2:c.1131G>A NP_001138880.1:p.Ala377= NC_000023.11:71297937:G:A p.(Ala377=) NC_000023.11:71297937:G:A p.(Ala377=) NC_000023.11:71297937:G:A Identity +NM_001370524.1:c.208AAG[6] NP_001357453.1:p.Lys76_Lys78del NC_000003.12:46709583:AAGAAGAAGAAGAAGAAGAAGAAGAAG:AAGAAGAAGAAGAAGAAG p.(Lys76_Lys78del) NC_000003.12:46709583:A:AAGAAGAAGAAGAAGAAG ERR:Parse ERR:Parse Identity +NM_001191028.3:c.582T>C NP_001177957.2:p.Asp194= NC_000007.14:129005129:A:G p.(Asp194=) NC_000007.14:129005129:A:G p.(Asp194=) NC_000007.14:129005129:A:G Identity +NM_000087.5:c.1560C>T NP_000078.3:p.Leu520= NC_000004.12:47936921:G:A p.(Leu520=) NC_000004.12:47936921:G:A p.(Leu520=) NC_000004.12:47936921:G:A Identity +NM_001256850.1:c.95193C>T NP_001243779.1:p.Phe31731= NC_000002.12:178536992:G:A p.(Phe31731=) NC_000002.12:178536992:G:A p.(Phe31731=) NC_000002.12:178536992:G:A Identity +NM_000445.5:c.4620_4649del NP_000436.2:p.Val1542_Glu1551del NC_000008.11:143925360:GCCTTCACGCGCGAGGCCAGCTCCACCTCCGCCT:GCCT p.(Val1542_Glu1551del) NC_000008.11:143925360:GCCTTCACGCGCGAGGCCAGCTCCACCTCCGCCT:GCCT p.(Val1542_Glu1551del) NC_000008.11:143925360:GCCTTCACGCGCGAGGCCAGCTCCACCTCC: Identity +NM_000232.5:c.199_210del NP_000223.1:p.Cys67_Ile70del NC_000004.12:52033463:GATAATCACACAGAT:GAT p.(Cys67_Ile70del) NC_000004.12:52033463:GATAATCACACAGAT:GAT p.(Cys67_Ile70del) NC_000004.12:52033463:GATAATCACACA: Identity +NM_001032381.2:c.393_413del NP_001027553.1:p.127GHDKSDR[1] NC_000023.11:48902316:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC:GGGGCCACGACAAGTC p.(Gly134_Arg140del) NC_000023.11:48902316:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC:GGGGCCACGACAAGTC p.(Gly134_Arg140del) NC_000023.11:48902332:AGACCGGGGCCACGACAAGTC: Analogous +NM_001168370.2:c.1143C>T NP_001161842.2:p.Pro381= NC_000006.12:43051153:G:A p.(Pro381=) NC_000006.12:43051153:G:A p.(Pro381=) NC_000006.12:43051153:G:A Identity +NM_001378761.1:c.1293T>C NP_001365690.1:p.Tyr431= NC_000011.10:121109347:T:C p.(Tyr431=) NC_000011.10:121109347:T:C p.(Tyr431=) NC_000011.10:121109347:T:C Identity +NM_000319.5:c.663G>A NP_000310.2:p.Gln221= NC_000012.12:7202260:G:A p.(Gln221=) NC_000012.12:7202260:G:A p.(Gln221=) NC_000012.12:7202260:G:A Identity +NM_001099679.2:c.1659C>G NP_001093149.1:p.Gly553= NC_000009.12:116699400:C:G p.(Gly553=) NC_000009.12:116699400:C:G p.(Gly553=) NC_000009.12:116699400:C:G Identity +NM_033071.5:c.4968G>A NP_149062.2:p.Ala1656= NC_000006.12:152428233:C:T p.(Ala1656=) NC_000006.12:152428233:C:T p.(Ala1656=) NC_000006.12:152428233:C:T Identity +NM_001145853.1:c.1947C>T NP_001139325.1:p.Phe649= NC_000004.12:6301741:C:T p.(Phe649=) NC_000004.12:6301741:C:T p.(Phe649=) NC_000004.12:6301741:C:T Identity +NM_001206846.2:c.4818A>G NP_001193775.1:p.Ala1606= NC_000001.11:197090912:T:C p.(Ala1606=) NC_000001.11:197090912:T:C p.(Ala1606=) NC_000001.11:197090912:T:C Identity +NM_000388.4:c.1074C>T NP_000379.3:p.Cys358= NC_000003.12:122262108:C:T p.(Cys358=) NC_000003.12:122262108:C:T p.(Cys358=) NC_000003.12:122262108:C:T Identity +NM_000540.3:c.2037C>A NP_000531.2:p.Thr679= NC_000019.10:38458161:C:A p.(Thr679=) NC_000019.10:38458161:C:A p.(Thr679=) NC_000019.10:38458161:C:A Identity +NM_033071.5:c.21072C>T NP_149062.2:p.Asp7024= NC_000006.12:152225786:G:A p.(Asp7024=) NC_000006.12:152225786:G:A p.(Asp7024=) NC_000006.12:152225786:G:A Identity +NM_001165924.2:c.161CCG[7] NP_001159396.1:p.Ala59dup NC_000010.11:117543426:GCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCG p.(Ala59dup) NC_000010.11:117543427:C:CCGCCGCCGCCGCCGCCGCCG ERR:Parse ERR:Parse Identity +NM_001005207.5:c.513A>T NP_001005207.1:p.Val171= NC_000017.11:59079856:T:A p.(Val171=) NC_000017.11:59079856:T:A p.(Val171=) NC_000017.11:59079856:T:A Identity +NM_001033054.3:c.912T>C NP_001028226.1:p.Pro304= NC_000017.11:6425513:A:G p.(Pro304=) NC_000017.11:6425513:A:G p.(Pro304=) NC_000017.11:6425513:A:G Identity +NM_001377289.1:c.324G>A NP_001364218.1:p.Ser108= NC_000006.12:70274058:C:T p.(Ser108=) NC_000006.12:70274058:C:T p.(Ser108=) NC_000006.12:70274058:C:T Identity +NM_001372.4:c.9744C>G NP_001363.2:p.Pro3248= NC_000017.11:11854238:C:G p.(Pro3248=) NC_000017.11:11854238:C:G p.(Pro3248=) NC_000017.11:11854238:C:G Identity +NM_000234.3:c.2442G>C NP_000225.1:p.Ala814= NC_000019.10:48117778:C:G p.(Ala814=) NC_000019.10:48117778:C:G p.(Ala814=) NC_000019.10:48117778:C:G Identity +NM_000744.7:c.681C>A NP_000735.1:p.Ala227= NC_000020.11:63350729:G:T p.(Ala227=) NC_000020.11:63350729:G:T p.(Ala227=) NC_000020.11:63350729:G:T Identity +NM_000388.4:c.1287C>T NP_000379.3:p.His429= NC_000003.12:122262321:C:T p.(His429=) NC_000003.12:122262321:C:T p.(His429=) NC_000003.12:122262321:C:T Identity +NM_001256850.1:c.81432T>C NP_001243779.1:p.Asn27144= NC_000002.12:178559776:A:G p.(Asn27144=) NC_000002.12:178559776:A:G p.(Asn27144=) NC_000002.12:178559776:A:G Identity +NM_000142.5:c.1263A>G NP_000133.1:p.Arg421= NC_000004.12:1804516:A:G p.(Arg421=) NC_000004.12:1804516:A:G p.(Arg421=) NC_000004.12:1804516:A:G Identity +NM_000875.5:c.2784A>G NP_000866.1:p.Thr928= NC_000015.10:98929558:A:G p.(Thr928=) NC_000015.10:98929558:A:G p.(Thr928=) NC_000015.10:98929558:A:G Identity +NM_001142800.2:c.7422_7423del NP_001136272.1:p.Gly2474_Asp2475insTer NC_000006.12:63789212:CGC:C p.(Asp2475Ter) NC_000006.12:63789212:CGC:C p.(Asp2475Ter) NC_000006.12:63789212:CG: Analogous +NM_001172574.2:c.954T>C NP_001166045.2:p.Ala318= NC_000008.11:6444675:T:C p.(Ala318=) NC_000008.11:6444675:T:C p.(Ala318=) NC_000008.11:6444675:T:C Identity +NM_018129.4:c.236_241del NP_060599.1:p.Asn79_Ala80del NC_000017.11:47943398:GCCAATGCCA:GCCA p.(Asn79_Ala80del) NC_000017.11:47943398:GCCAATGCCA:GCCA p.(Asn79_Ala80del) NC_000017.11:47943402:ATGCCA: Identity +LRG_1191t1:c.2830del LRG_1191p1:p.Pro943_Val944insTer NC_000020.11:10641545:CC:C ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_001291593.2:c.1941G>A NP_001278522.1:p.Pro647= NC_000001.11:5867107:C:T p.(Pro647=) NC_000001.11:5867107:C:T p.(Pro647=) NC_000001.11:5867107:C:T Identity +NM_001130455.2:c.1278G>A NP_001123927.1:p.Ala426= NC_000002.12:71528391:G:A p.(Ala426=) NC_000002.12:71528391:G:A p.(Ala426=) NC_000002.12:71528391:G:A Identity +NM_000346.4:c.1212C>T NP_000337.1:p.Pro404= NC_000017.11:72124068:C:T p.(Pro404=) NC_000017.11:72124068:C:T p.(Pro404=) NC_000017.11:72124068:C:T Identity +NM_007123.6:c.2835C>T NP_009054.6:p.Ala945= NC_000001.11:216232110:G:A p.(Ala945=) NC_000001.11:216232110:G:A p.(Ala945=) NC_000001.11:216232110:G:A Identity +NM_001165924.2:c.81C>G NP_001159396.1:p.Ser27= NC_000010.11:117543347:C:G p.(Ser27=) NC_000010.11:117543347:C:G p.(Ser27=) NC_000010.11:117543347:C:G Identity +NM_001256850.1:c.61533C>T NP_001243779.1:p.Asp20511= NC_000002.12:178581912:G:A p.(Asp20511=) NC_000002.12:178581912:G:A p.(Asp20511=) NC_000002.12:178581912:G:A Identity +NM_001849.4:c.948T>C NP_001840.3:p.Gly316= NC_000021.9:46116670:T:C p.(Gly316=) NC_000021.9:46116670:T:C p.(Gly316=) NC_000021.9:46116670:T:C Identity +NM_001256850.1:c.2547A>C NP_001243779.1:p.Thr849= NC_000002.12:178784297:T:G p.(Thr849=) NC_000002.12:178784297:T:G p.(Thr849=) NC_000002.12:178784297:T:G Identity +NM_003482.4:c.11304T>C NP_003473.3:p.Ala3768= NC_000012.12:49033400:A:G p.(Ala3768=) NC_000012.12:49033400:A:G p.(Ala3768=) NC_000012.12:49033400:A:G Identity +NM_133379.5:c.15465G>A NP_596870.2:p.Arg5155= NC_000002.12:178746934:C:T p.(Arg5155=) NC_000002.12:178746934:C:T p.(Arg5155=) NC_000002.12:178746934:C:T Identity +NM_000295.5:c.54G>A NP_000286.3:p.Leu18= NC_000014.9:94383183:C:T p.(Leu18=) NC_000014.9:94383183:C:T p.(Leu18=) NC_000014.9:94383183:C:T Identity +NM_153240.5:c.1437T>C NP_694972.3:p.Asp479= NC_000003.12:132704284:A:G p.(Asp479=) NC_000003.12:132704284:A:G p.(Asp479=) NC_000003.12:132704284:A:G Identity +LRG_1199t1:c.2086C>A LRG_1199p1:p.Arg696= NC_000002.12:168964297:G:T ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_000109.4:c.4494G>C NP_000100.3:p.Val1498= NC_000023.11:32389500:C:G p.(Val1498=) NC_000023.11:32389500:C:G p.(Val1498=) NC_000023.11:32389500:C:G Identity +NM_001256850.1:c.267G>A NP_001243779.1:p.Ala89= NC_000002.12:178802165:C:T p.(Ala89=) NC_000002.12:178802165:C:T p.(Ala89=) NC_000002.12:178802165:C:T Identity +NM_018136.5:c.7581_7585del NP_060606.3:p.Tyr2527_Arg2529delinsTer NC_000001.11:197101665:TGATAT:T p.(Tyr2527Ter) NC_000001.11:197101665:TGATAT:T p.(Tyr2527Ter) NC_000001.11:197101665:TGATA: Analogous +NM_001927.4:c.336_344del NP_001918.3:p.Gln113_Leu115del NC_000002.12:219418791:GGAGCTGCAGGAGCT:GGAGCT p.(Gln113_Leu115del) NC_000002.12:219418791:GGAGCTGCAGGAGCT:GGAGCT p.(Gln113_Leu115del) NC_000002.12:219418797:GCAGGAGCT: Identity +NM_001256850.1:c.61803C>T NP_001243779.1:p.Asp20601= NC_000002.12:178581541:G:A p.(Asp20601=) NC_000002.12:178581541:G:A p.(Asp20601=) NC_000002.12:178581541:G:A Identity +NM_001316350.2:c.1569C>T NP_001303279.1:p.Cys523= NC_000001.11:231275228:C:T p.(Cys523=) NC_000001.11:231275228:C:T p.(Cys523=) NC_000001.11:231275228:C:T Identity +NM_001167595.2:c.1032T>A NP_001161067.1:p.Pro344= NC_000005.10:33989209:A:T p.(Pro344=) NC_000005.10:33989209:A:T p.(Pro344=) NC_000005.10:33989209:A:T Identity +NM_002618.4:c.879C>T NP_002609.1:p.Phe293= NC_000002.12:61045816:C:T p.(Phe293=) NC_000002.12:61045816:C:T p.(Phe293=) NC_000002.12:61045816:C:T Identity +NM_000492.4:c.4036C>T NP_000483.3:p.Leu1346= NC_000007.14:117664759:C:T p.(Leu1346=) NC_000007.14:117664759:C:T p.(Leu1346=) NC_000007.14:117664759:C:T Identity +NM_015102.5:c.309C>T NP_055917.1:p.His103= NC_000001.11:5969229:G:A p.(His103=) NC_000001.11:5969229:G:A p.(His103=) NC_000001.11:5969229:G:A Identity +NM_015295.3:c.4803A>G NP_056110.2:p.Ser1601= NC_000018.10:2769776:A:G p.(Ser1601=) NC_000018.10:2769776:A:G p.(Ser1601=) NC_000018.10:2769776:A:G Identity +NM_033071.5:c.4410T>C NP_149062.2:p.Thr1470= NC_000006.12:152433866:A:G p.(Thr1470=) NC_000006.12:152433866:A:G p.(Thr1470=) NC_000006.12:152433866:A:G Identity +NM_015295.3:c.5127G>T NP_056110.2:p.Ser1709= NC_000018.10:2772323:G:T p.(Ser1709=) NC_000018.10:2772323:G:T p.(Ser1709=) NC_000018.10:2772323:G:T Identity +NM_015102.5:c.1236G>T NP_055917.1:p.Gly412= NC_000001.11:5933212:C:A p.(Gly412=) NC_000001.11:5933212:C:A p.(Gly412=) NC_000001.11:5933212:C:A Identity +LRG_1208t1:c.2367T>G LRG_1208p1:p.Ser789= NC_000010.11:99818884:T:G ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_006361.6:c.151T>C NP_006352.2:p.Leu51= NC_000017.11:48728442:A:G p.(Leu51=) NC_000017.11:48728442:A:G p.(Leu51=) NC_000017.11:48728442:A:G Identity +NM_006361.6:c.219_230del NP_006352.2:p.Ser74_Pro77del NC_000017.11:48728363:GGAGCTGGGGACG:G p.(Ser74_Pro77del) NC_000017.11:48728363:GGAGCTGGGGACG:G p.(Ser74_Pro77del) NC_000017.11:48728363:GGAGCTGGGGAC: Identity +NM_006361.6:c.456G>T NP_006352.2:p.Leu152= NC_000017.11:48728137:C:A p.(Leu152=) NC_000017.11:48728137:C:A p.(Leu152=) NC_000017.11:48728137:C:A Identity +NM_001258040.3:c.790_792dup NP_001244969.1:p.Leu265dup NC_000005.10:140677027:CAAC:CAACAAC p.(Leu265dup) NC_000005.10:140677027:CAAC:CAACAAC p.(Leu265dup) ERR:SPDI Identity +NM_001365684.2:c.1416_1444dup NP_001352613.2:p.Ala482Valfs NC_000005.10:177210684:CAGTGAGAACTCGTTAATAAAGGGTGGGGCAG:CAGTGAGAACTCGTTAATAAAGGGTGGGGCAGTGAGAACTCGTTAATAAAGGGTGGGGCAG p.(Ala482ValfsTer5) NC_000005.10:177210684:CAGTGAGAACTCGTTAATAAAGGGTGGGGCAG:CAGTGAGAACTCGTTAATAAAGGGTGGGGCAGTGAGAACTCGTTAATAAAGGGTGGGGCAG p.(Ala482ValfsTer5) ERR:SPDI Analogous +NM_004998.4:c.2595C>G NP_004989.2:p.Thr865= NC_000015.10:59163188:G:C p.(Thr865=) NC_000015.10:59163188:G:C p.(Thr865=) NC_000015.10:59163188:G:C Identity +NM_001284333.3:c.859_860del NP_001271262.1:p.Arg286_Asp287insTer NC_000017.11:62565024:AGAGA:AGA p.(Asp287Ter) NC_000017.11:62565024:AGAGA:AGA p.(Asp287Ter) NC_000017.11:62565027:GA: Analogous +NM_000202.8:c.982_996del NP_000193.1:p.Ile328_Thr332del NC_000023.11:149490323:GGTAAATGCAATGATGGT:GGT p.(Ile328_Thr332del) NC_000023.11:149490323:GGTAAATGCAATGATGGT:GGT p.(Ile328_Thr332del) NC_000023.11:149490323:GGTAAATGCAATGAT: Identity +NM_001369786.1:c.30A>G NP_001356715.1:p.Gly10= NC_000012.12:25245354:T:C p.(Gly10=) NC_000012.12:25245354:T:C p.(Gly10=) NC_000012.12:25245354:T:C Identity +NM_022168.4:c.1491G>C NP_071451.2:p.Thr497= NC_000002.12:162281360:C:G p.(Thr497=) NC_000002.12:162281360:C:G p.(Thr497=) NC_000002.12:162281360:C:G Identity +NM_000812.4:c.846A>G NP_000803.2:p.Thr282= NC_000004.12:47406691:A:G p.(Thr282=) NC_000004.12:47406691:A:G p.(Thr282=) NC_000004.12:47406691:A:G Identity +NM_052859.4:c.1080G>T NP_443091.1:p.Gly360= NC_000003.12:53103974:C:A p.(Gly360=) NC_000003.12:53103974:C:A p.(Gly360=) NC_000003.12:53103974:C:A Identity +NM_001267039.4:c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC NP_001253968.2:p.Lys230_Asn233delinsAsnProSerGlnTer NC_000004.12:112647241:GGAAGACAAT:TCCAAGCCAATAGACAATATCCAAGCC p.(Lys230AsnfsTer5) NC_000004.12:112647241:GGAAGACAAT:TCCAAGCCAATAGACAATATCCAAGCC p.(Lys230AsnfsTer5) NC_000004.12:112647241:GGAAGACAAT:TCCAAGCCAATAGACAATATCCAAGCC Analogous +NM_032856.5:c.525_565dup NP_116245.2:p.Asp189delinsValThrValArgSerTer NC_000015.10:84645788:CTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTG:CTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTG p.(Asp189ValfsTer6) NC_000015.10:84645788:CTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTG:CTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTGCATCTAGGACCTGCAGGCTACTCAGCTCCTCACTGTCACTG p.(Asp189ValfsTer6) ERR:SPDI Analogous +NM_000202.8:c.879G>A NP_000193.1:p.Gln293= NC_000023.11:149496345:C:T p.(Gln293=) NC_000023.11:149496345:C:T p.(Gln293=) NC_000023.11:149496345:C:T Identity +NM_000202.8:c.1092T>A NP_000193.1:p.Pro364= NC_000023.11:149487012:A:T p.(Pro364=) NC_000023.11:149487012:A:T p.(Pro364=) NC_000023.11:149487012:A:T Identity +NM_001382708.1:c.89_109del NP_001369637.1:p.Leu30_Pro36del NC_000002.12:219418545:CCCGCTGAGTTCGCCCGTGTTCCCGC:CCCGC p.(Leu30_Pro36del) NC_000002.12:219418545:CCCGCTGAGTTCGCCCGTGTTCCCGC:CCCGC p.(Leu30_Pro36del) NC_000002.12:219418550:TGAGTTCGCCCGTGTTCCCGC: Identity +NM_052859.4:c.1314C>T NP_443091.1:p.Asn438= NC_000003.12:53092512:G:A p.(Asn438=) NC_000003.12:53092512:G:A p.(Asn438=) NC_000003.12:53092512:G:A Identity +NM_001010867.4:c.678A>G NP_001010867.1:p.Gln226= NC_000001.11:228175027:A:G p.(Gln226=) NC_000001.11:228175027:A:G p.(Gln226=) NC_000001.11:228175027:A:G Identity +NM_000394.4:c.369C>T NP_000385.1:p.Asn123= NC_000021.9:43172126:C:T p.(Asn123=) NC_000021.9:43172126:C:T p.(Asn123=) NC_000021.9:43172126:C:T Identity +NM_001037333.3:c.1128G>T NP_001032410.1:p.Gly376= NC_000005.10:157314360:G:T p.(Gly376=) NC_000005.10:157314360:G:T p.(Gly376=) NC_000005.10:157314360:G:T Identity +NM_001127892.2:c.184delinsGGCGGCG NP_001121364.1:p.Ser62delinsGlyGlyGly NC_000016.10:51141746:T:CGCCGCC p.(Ser62delinsGlyGlyGly) NC_000016.10:51141746:T:CGCCGCC p.(Ser62delinsGlyGlyGly) NC_000016.10:51141746:T:CGCCGCC Identity +NM_001354689.3:c.1374C>T NP_001341618.1:p.Thr458= NC_000003.12:12590853:G:A p.(Thr458=) NC_000003.12:12590853:G:A p.(Thr458=) NC_000003.12:12590853:G:A Identity +NM_001407728.1:c.1725G>T NP_001394657.1:p.Ala575= NC_000017.11:43093664:C:A p.(Ala575=) NC_000017.11:43093664:C:A p.(Ala575=) NC_000017.11:43093664:C:A Identity +NM_001377273.1:c.96C>T NP_001364202.1:p.Val32= NC_000012.12:21936578:G:A p.(Val32=) NC_000012.12:21936578:G:A p.(Val32=) NC_000012.12:21936578:G:A Identity +NM_000218.3:c.1029_1031dup NP_000209.2:p.Ala344_Gly345insAla NC_000011.10:2583540:CAGC:CAGCAGC p.(Ala344dup) NC_000011.10:2583540:CAGC:CAGCAGC p.(Ala344dup) ERR:SPDI Analogous +NM_001330540.2:c.595_600del NP_001317469.1:p.Ala199_Pro200del NC_000001.11:45509128:CCCGCCCCC:CCC p.(Ala199_Pro200del) NC_000001.11:45509128:CCCGCCCCC:CCC p.(Ala199_Pro200del) NC_000001.11:45509131:GCCCCC: Identity +NM_001079802.2:c.411C>T NP_001073270.1:p.Cys137= NC_000009.12:105604255:C:T p.(Cys137=) NC_000009.12:105604255:C:T p.(Cys137=) NC_000009.12:105604255:C:T Identity +NM_001122633.3:c.3121C>T NP_001116105.2:p.Leu1041= NC_000002.12:210642644:C:T p.(Leu1041=) NC_000002.12:210642644:C:T p.(Leu1041=) NC_000002.12:210642644:C:T Identity +NM_000100.4:c.180C>T NP_000091.1:p.Gly60= NC_000021.9:43774318:G:A p.(Gly60=) NC_000021.9:43774318:G:A p.(Gly60=) NC_000021.9:43774318:G:A Identity +NM_000152.5:c.972G>A NP_000143.2:p.Pro324= NC_000017.11:80108305:G:A p.(Pro324=) NC_000017.11:80108305:G:A p.(Pro324=) NC_000017.11:80108305:G:A Identity +NM_000051.4:c.1257A>G NP_000042.3:p.Leu419= NC_000011.10:108250721:A:G p.(Leu419=) NC_000011.10:108250721:A:G p.(Leu419=) NC_000011.10:108250721:A:G Identity +NM_000051.4:c.3115A>C NP_000042.3:p.Arg1039= NC_000011.10:108272568:A:C p.(Arg1039=) NC_000011.10:108272568:A:C p.(Arg1039=) NC_000011.10:108272568:A:C Identity +NM_001407633.1:c.1566G>A NP_001394562.1:p.Leu522= NC_000017.11:43093961:C:T p.(Leu522=) NC_000017.11:43093961:C:T p.(Leu522=) NC_000017.11:43093961:C:T Identity +NM_001407852.1:c.735C>T NP_001394781.1:p.Leu245= NC_000017.11:43094654:G:A p.(Leu245=) NC_000017.11:43094654:G:A p.(Leu245=) NC_000017.11:43094654:G:A Identity +NM_001407571.1:c.3189A>G NP_001394500.1:p.Glu1063= NC_000017.11:43092128:T:C p.(Glu1063=) NC_000017.11:43092128:T:C p.(Glu1063=) NC_000017.11:43092128:T:C Identity +NM_001407581.1:c.68_70del NP_001394510.1:p.Glu23_Cys24delinsGly NC_000017.11:43124026:ACT: p.(Glu23_Cys24delinsGly) NC_000017.11:43124026:ACT: p.(Glu23_Cys24delinsGly) NC_000017.11:43124026:ACT: Identity +NM_001330437.2:c.1191G>T NP_001317366.1:p.Thr397= NC_000012.12:112482171:G:T p.(Thr397=) NC_000012.12:112482171:G:T p.(Thr397=) NC_000012.12:112482171:G:T Identity +NM_001122633.3:c.4068G>A NP_001116105.2:p.Lys1356= NC_000002.12:210668250:G:A p.(Lys1356=) NC_000002.12:210668250:G:A p.(Lys1356=) NC_000002.12:210668250:G:A Identity +NM_004629.2:c.1365C>A NP_004620.1:p.Thr455= NC_000009.12:35075532:G:T p.(Thr455=) NC_000009.12:35075532:G:T p.(Thr455=) NC_000009.12:35075532:G:T Identity +NM_001407571.1:c.692dup NP_001394500.1:p.Ala231_Glu232insTer NC_000017.11:43094625:G:GG p.(Glu232Ter) NC_000017.11:43094625:G:GG p.(Glu232Ter) ERR:SPDI Analogous +NM_000264.5:c.3306G>A NP_000255.2:p.Leu1102= NC_000009.12:95456275:C:T p.(Leu1102=) NC_000009.12:95456275:C:T p.(Leu1102=) NC_000009.12:95456275:C:T Identity +NM_005518.4:c.633C>T NP_005509.1:p.Ala211= NC_000001.11:119759915:G:A p.(Ala211=) NC_000001.11:119759915:G:A p.(Ala211=) NC_000001.11:119759915:G:A Identity +NM_001145661.2:c.381C>T NP_001139133.1:p.His127= NC_000003.12:128486216:G:A p.(His127=) NC_000003.12:128486216:G:A p.(His127=) NC_000003.12:128486216:G:A Identity +NM_001166292.2:c.546G>A NP_001159764.1:p.Pro182= NC_000001.11:44831776:C:T p.(Pro182=) NC_000001.11:44831776:C:T p.(Pro182=) NC_000001.11:44831776:C:T Identity +NM_000152.5:c.924C>T NP_000143.2:p.His308= NC_000017.11:80107864:C:T p.(His308=) NC_000017.11:80107864:C:T p.(His308=) NC_000017.11:80107864:C:T Identity +NM_017780.4:c.7146G>A NP_060250.2:p.Thr2382= NC_000008.11:60856183:G:A p.(Thr2382=) NC_000008.11:60856183:G:A p.(Thr2382=) NC_000008.11:60856183:G:A Identity +NM_000784.4:c.1500C>T NP_000775.1:p.Val500= NC_000002.12:218814933:C:T p.(Val500=) NC_000002.12:218814933:C:T p.(Val500=) NC_000002.12:218814933:C:T Identity +NM_000790.4:c.1413G>A NP_000781.2:p.Ala471= NC_000007.14:50463260:C:T p.(Ala471=) NC_000007.14:50463260:C:T p.(Ala471=) NC_000007.14:50463260:C:T Identity +NM_000051.4:c.2967T>G NP_000042.3:p.Thr989= NC_000011.10:108271295:T:G p.(Thr989=) NC_000011.10:108271295:T:G p.(Thr989=) NC_000011.10:108271295:T:G Identity +NM_005908.4:c.2592T>C NP_005899.3:p.Asn864= NC_000004.12:102632104:A:G p.(Asn864=) NC_000004.12:102632104:A:G p.(Asn864=) NC_000004.12:102632104:A:G Identity +NM_000152.5:c.2154C>G NP_000143.2:p.Val718= NC_000017.11:80113330:C:G p.(Val718=) NC_000017.11:80113330:C:G p.(Val718=) NC_000017.11:80113330:C:G Identity +NM_032043.3:c.459T>C NP_114432.2:p.Asp153= NC_000017.11:61849176:A:G p.(Asp153=) NC_000017.11:61849176:A:G p.(Asp153=) NC_000017.11:61849176:A:G Identity +NM_000035.4:c.178C>A NP_000026.2:p.Arg60= NC_000009.12:101429900:G:T p.(Arg60=) NC_000009.12:101429900:G:T p.(Arg60=) NC_000009.12:101429900:G:T Identity +NM_000784.4:c.1515G>A NP_000775.1:p.Thr505= NC_000002.12:218814948:G:A p.(Thr505=) NC_000002.12:218814948:G:A p.(Thr505=) NC_000002.12:218814948:G:A Identity +NM_000035.4:c.282C>T NP_000026.2:p.Phe94= NC_000009.12:101429796:G:A p.(Phe94=) NC_000009.12:101429796:G:A p.(Phe94=) NC_000009.12:101429796:G:A Identity +NM_000264.5:c.3747C>T NP_000255.2:p.Gly1249= NC_000009.12:95449125:G:A p.(Gly1249=) NC_000009.12:95449125:G:A p.(Gly1249=) NC_000009.12:95449125:G:A Identity +NM_001122633.3:c.1827C>T NP_001116105.2:p.Leu609= NC_000002.12:210602320:C:T p.(Leu609=) NC_000002.12:210602320:C:T p.(Leu609=) NC_000002.12:210602320:C:T Identity +NM_032043.3:c.1446C>T NP_114432.2:p.Ile482= NC_000017.11:61793623:G:A p.(Ile482=) NC_000017.11:61793623:G:A p.(Ile482=) NC_000017.11:61793623:G:A Identity +NM_032043.3:c.156A>G NP_114432.2:p.Lys52= NC_000017.11:61859844:T:C p.(Lys52=) NC_000017.11:61859844:T:C p.(Lys52=) NC_000017.11:61859844:T:C Identity +NM_000790.4:c.672A>G NP_000781.2:p.Glu224= NC_000007.14:50528178:T:C p.(Glu224=) NC_000007.14:50528178:T:C p.(Glu224=) NC_000007.14:50528178:T:C Identity +NM_024675.4:c.2091C>G NP_078951.2:p.Gly697= NC_000016.10:23630062:G:C p.(Gly697=) NC_000016.10:23630062:G:C p.(Gly697=) NC_000016.10:23630062:G:C Identity +NM_001308093.3:c.1101G>A NP_001295022.1:p.Thr367= NC_000008.11:11757034:G:A p.(Thr367=) NC_000008.11:11757034:G:A p.(Thr367=) NC_000008.11:11757034:G:A Identity +NM_017617.5:c.2580C>T NP_060087.3:p.Gly860= NC_000009.12:136511158:G:A p.(Gly860=) NC_000009.12:136511158:G:A p.(Gly860=) NC_000009.12:136511158:G:A Identity +NM_000350.3:c.5361C>T NP_000341.2:p.Val1787= NC_000001.11:94014641:G:A p.(Val1787=) NC_000001.11:94014641:G:A p.(Val1787=) NC_000001.11:94014641:G:A Identity +NM_001015878.2:c.780A>G NP_001015878.1:p.Leu260= NC_000019.10:57235266:A:G p.(Leu260=) NC_000019.10:57235266:A:G p.(Leu260=) NC_000019.10:57235266:A:G Identity +NM_001204.7:c.261C>T NP_001195.2:p.His87= NC_000002.12:202467531:C:T p.(His87=) NC_000002.12:202467531:C:T p.(His87=) NC_000002.12:202467531:C:T Identity +NM_005908.4:c.1746A>T NP_005899.3:p.Ser582= NC_000004.12:102650659:T:A p.(Ser582=) NC_000004.12:102650659:T:A p.(Ser582=) NC_000004.12:102650659:T:A Identity +NM_001385.3:c.381C>T NP_001376.1:p.Cys127= NC_000008.11:104451287:G:A p.(Cys127=) NC_000008.11:104451287:G:A p.(Cys127=) NC_000008.11:104451287:G:A Identity +NM_139025.5:c.1437G>A NP_620594.1:p.Gly479= NC_000009.12:133437749:G:A p.(Gly479=) NC_000009.12:133437749:G:A p.(Gly479=) NC_000009.12:133437749:G:A Identity +NM_000264.5:c.3059_3088del NP_000255.2:p.Gln1020_Leu1029del NC_000009.12:95458092:GCAGCAGCCAGTGGCGGAGGCCGATGTACTGC:GC p.(Gln1020_Leu1029del) NC_000009.12:95458092:GCAGCAGCCAGTGGCGGAGGCCGATGTACTGC:GC p.(Gln1020_Leu1029del) NC_000009.12:95458092:GCAGCAGCCAGTGGCGGAGGCCGATGTACT: Identity +NM_000135.4:c.3177G>C NP_000126.2:p.Leu1059= NC_000016.10:89749791:C:G p.(Leu1059=) NC_000016.10:89749791:C:G p.(Leu1059=) NC_000016.10:89749791:C:G Identity +NM_000135.4:c.3822C>T NP_000126.2:p.Thr1274= NC_000016.10:89740809:G:A p.(Thr1274=) NC_000016.10:89740809:G:A p.(Thr1274=) NC_000016.10:89740809:G:A Identity +NM_006343.3:c.2874G>C NP_006334.2:p.Pro958= NC_000002.12:112028737:G:C p.(Pro958=) NC_000002.12:112028737:G:C p.(Pro958=) NC_000002.12:112028737:G:C Identity +NM_001178133.2:c.1023G>A NP_001171604.1:p.Pro341= NC_000010.11:102615267:G:A p.(Pro341=) NC_000010.11:102615267:G:A p.(Pro341=) NC_000010.11:102615267:G:A Identity +NM_001256267.2:c.3564C>T NP_001243196.1:p.Pro1188= NC_000010.11:68201898:C:T p.(Pro1188=) NC_000010.11:68201898:C:T p.(Pro1188=) NC_000010.11:68201898:C:T Identity +NM_000244.4:c.684G>A NP_000235.3:p.Leu228= NC_000011.10:64807665:C:T p.(Leu228=) NC_000011.10:64807665:C:T p.(Leu228=) NC_000011.10:64807665:C:T Identity +NM_001286130.2:c.3465C>T NP_001273059.1:p.Val1155= NC_000016.10:57884436:G:A p.(Val1155=) NC_000016.10:57884436:G:A p.(Val1155=) NC_000016.10:57884436:G:A Identity +NM_000051.4:c.2806C>T NP_000042.3:p.Leu936= NC_000011.10:108268576:C:T p.(Leu936=) NC_000011.10:108268576:C:T p.(Leu936=) NC_000011.10:108268576:C:T Identity +NM_000051.4:c.1383A>G NP_000042.3:p.Glu461= NC_000011.10:108250847:A:G p.(Glu461=) NC_000011.10:108250847:A:G p.(Glu461=) NC_000011.10:108250847:A:G Identity +NM_000152.5:c.2148C>A NP_000143.2:p.Ala716= NC_000017.11:80113324:C:A p.(Ala716=) NC_000017.11:80113324:C:A p.(Ala716=) NC_000017.11:80113324:C:A Identity +NM_000790.4:c.771C>T NP_000781.2:p.Val257= NC_000007.14:50504002:G:A p.(Val257=) NC_000007.14:50504002:G:A p.(Val257=) NC_000007.14:50504002:G:A Identity +NM_001308133.2:c.5745C>T NP_001295062.1:p.Thr1915= NC_000014.9:45198749:C:T p.(Thr1915=) NC_000014.9:45198749:C:T p.(Thr1915=) NC_000014.9:45198749:C:T Identity +NM_000152.5:c.1656C>A NP_000143.2:p.Leu552= NC_000017.11:80112001:C:A p.(Leu552=) NC_000017.11:80112001:C:A p.(Leu552=) NC_000017.11:80112001:C:A Identity +NM_000790.4:c.120G>A NP_000781.2:p.Pro40= NC_000007.14:50543965:C:T p.(Pro40=) NC_000007.14:50543965:C:T p.(Pro40=) NC_000007.14:50543965:C:T Identity +NM_000152.5:c.2178C>T NP_000143.2:p.Pro726= NC_000017.11:80113354:C:T p.(Pro726=) NC_000017.11:80113354:C:T p.(Pro726=) NC_000017.11:80113354:C:T Identity +NM_000784.4:c.1425C>A NP_000775.1:p.Ala475= NC_000002.12:218814705:C:A p.(Ala475=) NC_000002.12:218814705:C:A p.(Ala475=) NC_000002.12:218814705:C:A Identity +NM_001868.4:c.792C>G NP_001859.1:p.Ser264= NC_000007.14:130385149:C:G p.(Ser264=) NC_000007.14:130385149:C:G p.(Ser264=) NC_000007.14:130385149:C:G Identity +NM_000051.4:c.939C>T NP_000042.3:p.Tyr313= NC_000011.10:108247000:C:T p.(Tyr313=) NC_000011.10:108247000:C:T p.(Tyr313=) NC_000011.10:108247000:C:T Identity +NM_000096.4:c.1995T>C NP_000087.2:p.Tyr665= NC_000003.12:149186601:A:G p.(Tyr665=) NC_000003.12:149186601:A:G p.(Tyr665=) NC_000003.12:149186601:A:G Identity +NM_000784.4:c.150C>T NP_000775.1:p.Val50= NC_000002.12:218782331:C:T p.(Val50=) NC_000002.12:218782331:C:T p.(Val50=) NC_000002.12:218782331:C:T Identity +NM_000152.5:c.2559C>G NP_000143.2:p.Ala853= NC_000017.11:80118269:C:G p.(Ala853=) NC_000017.11:80118269:C:G p.(Ala853=) NC_000017.11:80118269:C:G Identity +NM_001122633.3:c.4317C>T NP_001116105.2:p.Pro1439= NC_000002.12:210677048:C:T p.(Pro1439=) NC_000002.12:210677048:C:T p.(Pro1439=) NC_000002.12:210677048:C:T Identity +NM_000096.4:c.411T>C NP_000087.2:p.Asp137= NC_000003.12:149210362:A:G p.(Asp137=) NC_000003.12:149210362:A:G p.(Asp137=) NC_000003.12:149210362:A:G Identity +NM_001287424.2:c.291C>T NP_001274353.1:p.Ile97= NC_000019.10:33302228:G:A p.(Ile97=) NC_000019.10:33302228:G:A p.(Ile97=) NC_000019.10:33302228:G:A Identity +NM_000051.4:c.4425T>C NP_000042.3:p.Tyr1475= NC_000011.10:108289789:T:C p.(Tyr1475=) NC_000011.10:108289789:T:C p.(Tyr1475=) NC_000011.10:108289789:T:C Identity +NM_000051.4:c.1131T>C NP_000042.3:p.Ser377= NC_000011.10:108248997:T:C p.(Ser377=) NC_000011.10:108248997:T:C p.(Ser377=) NC_000011.10:108248997:T:C Identity +NM_000035.4:c.99A>C NP_000026.2:p.Ala33= NC_000009.12:101430788:T:G p.(Ala33=) NC_000009.12:101430788:T:G p.(Ala33=) NC_000009.12:101430788:T:G Identity +NM_001278055.2:c.531C>T NP_001264984.1:p.Asp177= NC_000013.11:23355639:G:A p.(Asp177=) NC_000013.11:23355639:G:A p.(Asp177=) NC_000013.11:23355639:G:A Identity +NM_032043.3:c.2415A>G NP_114432.2:p.Ser805= NC_000017.11:61716027:T:C p.(Ser805=) NC_000017.11:61716027:T:C p.(Ser805=) NC_000017.11:61716027:T:C Identity +NM_000152.5:c.942C>T NP_000143.2:p.Asn314= NC_000017.11:80107882:C:T p.(Asn314=) NC_000017.11:80107882:C:T p.(Asn314=) NC_000017.11:80107882:C:T Identity +NM_001122633.3:c.3399T>C NP_001116105.2:p.Val1133= NC_000002.12:210648534:T:C p.(Val1133=) NC_000002.12:210648534:T:C p.(Val1133=) NC_000002.12:210648534:T:C Identity +NM_000400.4:c.2010C>T NP_000391.1:p.Gly670= NC_000019.10:45352541:G:A p.(Gly670=) NC_000019.10:45352541:G:A p.(Gly670=) NC_000019.10:45352541:G:A Identity +NM_001040113.2:c.1095T>C NP_001035202.1:p.Asn365= NC_000016.10:15763850:A:G p.(Asn365=) NC_000016.10:15763850:A:G p.(Asn365=) NC_000016.10:15763850:A:G Identity +NM_015662.3:c.336G>A NP_056477.1:p.Thr112= NC_000002.12:27484226:C:T p.(Thr112=) NC_000002.12:27484226:C:T p.(Thr112=) NC_000002.12:27484226:C:T Identity +NM_000051.4:c.3617_3620del NP_000042.3:p.Arg1205_Leu1206insTer NC_000011.10:108282749:TAGA: p.(Leu1206Ter) NC_000011.10:108282749:TAGA: p.(Leu1206Ter) NC_000011.10:108282749:TAGA: Analogous +NM_001012511.3:c.432_449del NP_001012529.1:p.His145_Gly150del NC_000017.11:46935112:ATTTTAGATGGGCACAATATTTTAGATGG:ATTTTAGATGG p.(His145_Gly150del) NC_000017.11:46935112:ATTTTAGATGGGCACAATATTTTAGATGG:ATTTTAGATGG p.(His145_Gly150del) NC_000017.11:46935123:GCACAATATTTTAGATGG: Identity +NM_001178133.2:c.852_860dup NP_001171604.1:p.Asp285_Asp287dup NC_000010.11:102597228:CGAGGATGACGAGGA:CGAGGATGACGAGGATGACGAGGA p.(Asp285_Asp287dup) NC_000010.11:102597228:CGAGGATGACGAGGA:CGAGGATGACGAGGATGACGAGGA p.(Asp285_Asp287dup) ERR:SPDI Identity +NM_000152.5:c.54C>G NP_000143.2:p.Leu18= NC_000017.11:80104639:C:G p.(Leu18=) NC_000017.11:80104639:C:G p.(Leu18=) NC_000017.11:80104639:C:G Identity +NM_001178133.2:c.42_65del NP_001171604.1:p.10PGPTAPPA[1] NC_000010.11:102504191:GCGCCCCCGGCCCCTGGCCCGACTGC:GC p.(Pro18_Ala25del) NC_000010.11:102504191:GCGCCCCCGGCCCCTGGCCCGACTGC:GC p.(Pro18_Ala25del) NC_000010.11:102504193:GCCCCCGGCCCCTGGCCCGACTGC: Analogous +NM_001308133.2:c.111C>T NP_001295062.1:p.Ser37= NC_000014.9:45136141:C:T p.(Ser37=) NC_000014.9:45136141:C:T p.(Ser37=) NC_000014.9:45136141:C:T Identity +NM_001256850.1:c.42627C>T NP_001243779.1:p.Phe14209= NC_000002.12:178617800:G:A p.(Phe14209=) NC_000002.12:178617800:G:A p.(Phe14209=) NC_000002.12:178617800:G:A Identity +NM_002769.5:c.81C>T NP_002760.1:p.Gly27= NC_000007.14:142750594:C:T p.(Gly27=) NC_000007.14:142750594:C:T p.(Gly27=) NC_000007.14:142750594:C:T Identity +NM_001193307.2:c.321A>G NP_001180236.1:p.Arg107= NC_000007.14:93105776:T:C p.(Arg107=) NC_000007.14:93105776:T:C p.(Arg107=) NC_000007.14:93105776:T:C Identity +NM_032043.3:c.318T>C NP_114432.2:p.Arg106= NC_000017.11:61857118:A:G p.(Arg106=) NC_000017.11:61857118:A:G p.(Arg106=) NC_000017.11:61857118:A:G Identity +NM_032581.4:c.1335C>T NP_115970.2:p.Thr445= NC_000007.14:22945819:G:A p.(Thr445=) NC_000007.14:22945819:G:A p.(Thr445=) NC_000007.14:22945819:G:A Identity +NM_001308133.2:c.4521G>A NP_001295062.1:p.Glu1507= NC_000014.9:45185299:G:A p.(Glu1507=) NC_000014.9:45185299:G:A p.(Glu1507=) NC_000014.9:45185299:G:A Identity +NM_001122633.3:c.2892T>A NP_001116105.2:p.Gly964= NC_000002.12:210639211:T:A p.(Gly964=) NC_000002.12:210639211:T:A p.(Gly964=) NC_000002.12:210639211:T:A Identity +NM_000790.4:c.666G>T NP_000781.2:p.Leu222= NC_000007.14:50528184:C:A p.(Leu222=) NC_000007.14:50528184:C:A p.(Leu222=) NC_000007.14:50528184:C:A Identity +NM_000192.3:c.732G>T NP_000183.2:p.Leu244= NC_000012.12:114385498:C:A p.(Leu244=) NC_000012.12:114385498:C:A p.(Leu244=) NC_000012.12:114385498:C:A Identity +NM_001283009.2:c.1251C>T NP_001269938.1:p.Ala417= NC_000020.11:63685581:C:T p.(Ala417=) NC_000020.11:63685581:C:T p.(Ala417=) NC_000020.11:63685581:C:T Identity +NM_000135.4:c.1665C>A NP_000126.2:p.Ile555= NC_000016.10:89779918:G:T p.(Ile555=) NC_000016.10:89779918:G:T p.(Ile555=) NC_000016.10:89779918:G:T Identity +NM_000264.5:c.63C>A NP_000255.2:p.Ile21= NC_000009.12:95508298:G:T p.(Ile21=) NC_000009.12:95508298:G:T p.(Ile21=) NC_000009.12:95508298:G:T Identity +NM_000465.4:c.138G>A NP_000456.2:p.Lys46= NC_000002.12:214809431:C:T p.(Lys46=) NC_000002.12:214809431:C:T p.(Lys46=) NC_000002.12:214809431:C:T Identity +NM_000051.4:c.4518G>T NP_000042.3:p.Val1506= NC_000011.10:108292699:G:T p.(Val1506=) NC_000011.10:108292699:G:T p.(Val1506=) NC_000011.10:108292699:G:T Identity +NM_024675.4:c.1386A>G NP_078951.2:p.Glu462= NC_000016.10:23635159:T:C p.(Glu462=) NC_000016.10:23635159:T:C p.(Glu462=) NC_000016.10:23635159:T:C Identity +NM_000051.4:c.5682G>A NP_000042.3:p.Glu1894= NC_000011.10:108307903:G:A p.(Glu1894=) NC_000011.10:108307903:G:A p.(Glu1894=) NC_000011.10:108307903:G:A Identity +NM_001122633.3:c.4377T>C NP_001116105.2:p.Ser1459= NC_000002.12:210677108:T:C p.(Ser1459=) NC_000002.12:210677108:T:C p.(Ser1459=) NC_000002.12:210677108:T:C Identity +NM_001204.7:c.1686C>T NP_001195.2:p.Ile562= NC_000002.12:202555350:C:T p.(Ile562=) NC_000002.12:202555350:C:T p.(Ile562=) NC_000002.12:202555350:C:T Identity +NM_000035.4:c.474T>C NP_000026.2:p.Cys158= NC_000009.12:101427547:A:G p.(Cys158=) NC_000009.12:101427547:A:G p.(Cys158=) NC_000009.12:101427547:A:G Identity +NM_032043.3:c.3276G>T NP_114432.2:p.Pro1092= NC_000017.11:61683769:C:A p.(Pro1092=) NC_000017.11:61683769:C:A p.(Pro1092=) NC_000017.11:61683769:C:A Identity +NM_000244.4:c.1159T>C NP_000235.3:p.Leu387= NC_000011.10:64805675:A:G p.(Leu387=) NC_000011.10:64805675:A:G p.(Leu387=) NC_000011.10:64805675:A:G Identity +NM_000152.5:c.1017C>T NP_000143.2:p.Val339= NC_000017.11:80108350:C:T p.(Val339=) NC_000017.11:80108350:C:T p.(Val339=) NC_000017.11:80108350:C:T Identity +NM_001130009.3:c.2100A>T NP_001123481.3:p.Ile700= NC_000002.12:17781311:A:T p.(Ile700=) NC_000002.12:17781311:A:T p.(Ile700=) NC_000002.12:17781311:A:T Identity +NM_000244.4:c.1140G>C NP_000235.3:p.Leu380= NC_000011.10:64805694:C:G p.(Leu380=) NC_000011.10:64805694:C:G p.(Leu380=) NC_000011.10:64805694:C:G Identity +NM_130803.3:c.84C>T NP_570715.2:p.Gly28= NC_000011.10:64810025:G:A p.(Gly28=) NC_000011.10:64810025:G:A p.(Gly28=) NC_000011.10:64810025:G:A Identity +NM_001377456.1:c.945G>A NP_001364385.1:p.Arg315= NC_000016.10:56502451:C:T p.(Arg315=) NC_000016.10:56502451:C:T p.(Arg315=) NC_000016.10:56502451:C:T Identity +NM_001363227.2:c.1381_1384delinsA NP_001350156.1:p.Leu461_Tyr462delinsAsn NC_000008.11:43193759:CTTT:A p.(Leu461_Tyr462delinsAsn) NC_000008.11:43193759:CTTT:A p.(Leu461_Tyr462delinsAsn) NC_000008.11:43193759:CTTT:A Identity +NM_206933.4:c.14849_14858dup NP_996816.3:p.Asp4953delinsGluLeuGluTer NC_000001.11:215640667:TCACTCCAGTTCAC:TCACTCCAGTTCACTCCAGTTCAC p.(Asp4953GlufsTer4) NC_000001.11:215640667:TCACTCCAGTTCAC:TCACTCCAGTTCACTCCAGTTCAC p.(Asp4953GlufsTer4) ERR:SPDI Analogous +NM_001142800.2:c.5319_5342del NP_001136272.1:p.Asn1773_Val1781delinsLys NC_000006.12:64590524:ACTGAGCCTGTCAATGGTGGCAGA: p.(Asn1773_Val1781delinsLys) NC_000006.12:64590524:ACTGAGCCTGTCAATGGTGGCAGA: p.(Asn1773_Val1781delinsLys) NC_000006.12:64590524:ACTGAGCCTGTCAATGGTGGCAGA: Identity +NM_133497.4:c.405G>A NP_598004.1:p.Gln135= NC_000009.12:2718143:G:A p.(Gln135=) NC_000009.12:2718143:G:A p.(Gln135=) NC_000009.12:2718143:G:A Identity +NM_001868.4:c.837T>C NP_001859.1:p.Phe279= NC_000007.14:130385194:T:C p.(Phe279=) NC_000007.14:130385194:T:C p.(Phe279=) NC_000007.14:130385194:T:C Identity +NM_001256850.1:c.73125C>T NP_001243779.1:p.Asn24375= NC_000002.12:178568083:G:A p.(Asn24375=) NC_000002.12:178568083:G:A p.(Asn24375=) NC_000002.12:178568083:G:A Identity +NM_001001890.3:c.1071C>T NP_001001890.1:p.Pro357= NC_000021.9:34792425:G:A p.(Pro357=) NC_000021.9:34792425:G:A p.(Pro357=) NC_000021.9:34792425:G:A Identity +NM_032043.3:c.2703T>C NP_114432.2:p.Asn901= NC_000017.11:61686037:A:G p.(Asn901=) NC_000017.11:61686037:A:G p.(Asn901=) NC_000017.11:61686037:A:G Identity +NM_032043.3:c.390A>G NP_114432.2:p.Glu130= NC_000017.11:61849245:T:C p.(Glu130=) NC_000017.11:61849245:T:C p.(Glu130=) NC_000017.11:61849245:T:C Identity +NM_032043.3:c.81T>C NP_114432.2:p.Ala27= NC_000017.11:61861458:A:G p.(Ala27=) NC_000017.11:61861458:A:G p.(Ala27=) NC_000017.11:61861458:A:G Identity +NM_032043.3:c.3597G>T NP_114432.2:p.Leu1199= NC_000017.11:61683448:C:A p.(Leu1199=) NC_000017.11:61683448:C:A p.(Leu1199=) NC_000017.11:61683448:C:A Identity +NM_032043.3:c.33T>A NP_114432.2:p.Gly11= NC_000017.11:61861506:A:T p.(Gly11=) NC_000017.11:61861506:A:T p.(Gly11=) NC_000017.11:61861506:A:T Identity +NM_032043.3:c.534A>T NP_114432.2:p.Thr178= NC_000017.11:61847193:T:A p.(Thr178=) NC_000017.11:61847193:T:A p.(Thr178=) NC_000017.11:61847193:T:A Identity +NM_000465.4:c.741T>C NP_000456.2:p.Ser247= NC_000002.12:214781132:A:G p.(Ser247=) NC_000002.12:214781132:A:G p.(Ser247=) NC_000002.12:214781132:A:G Identity +NM_000465.4:c.1587G>C NP_000456.2:p.Arg529= NC_000002.12:214752536:C:G p.(Arg529=) NC_000002.12:214752536:C:G p.(Arg529=) NC_000002.12:214752536:C:G Identity +NM_032043.3:c.486del NP_114432.2:p.Pro163_Leu164insTer NC_000017.11:61849149:T: p.(Leu164Ter) NC_000017.11:61849149:T: p.(Leu164Ter) NC_000017.11:61849149:T: Analogous +NM_000465.4:c.879C>T NP_000456.2:p.Ser293= NC_000002.12:214780994:G:A p.(Ser293=) NC_000002.12:214780994:G:A p.(Ser293=) NC_000002.12:214780994:G:A Identity +NM_002769.5:c.204C>T NP_002760.1:p.Arg68= NC_000007.14:142751776:C:T p.(Arg68=) NC_000007.14:142751776:C:T p.(Arg68=) NC_000007.14:142751776:C:T Identity +NM_002769.5:c.477G>A NP_002760.1:p.Gln159= NC_000007.14:142752452:G:A p.(Gln159=) NC_000007.14:142752452:G:A p.(Gln159=) NC_000007.14:142752452:G:A Identity +NM_001868.4:c.298GAGCAG[3] NP_001859.1:p.Gln103_Met104insGluGln NC_000007.14:130381777:AGGAGCAGGAGCAG:AGGAGCAGGAGCAGGAGCAG p.(Glu102_Gln103dup) NC_000007.14:130381779:G:GAGCAGGAGCAGGAGCAG ERR:Parse ERR:Parse Analogous +NM_001868.4:c.27C>G NP_001859.1:p.Val9= NC_000007.14:130380546:C:G p.(Val9=) NC_000007.14:130380546:C:G p.(Val9=) NC_000007.14:130380546:C:G Identity +NM_000296.4:c.9186C>A NP_000287.4:p.Val3062= NC_000016.10:2102395:G:T p.(Val3062=) NC_000016.10:2102395:G:T p.(Val3062=) NC_000016.10:2102395:G:T Identity +NM_139025.5:c.2130C>T NP_620594.1:p.Cys710= NC_000009.12:133442638:C:T p.(Cys710=) NC_000009.12:133442638:C:T p.(Cys710=) NC_000009.12:133442638:C:T Identity +NM_001204255.2:c.486G>C NP_001191184.1:p.Thr162= NC_000004.12:76174222:C:G p.(Thr162=) NC_000004.12:76174222:C:G p.(Thr162=) NC_000004.12:76174222:C:G Identity +NM_016222.4:c.135A>G NP_057306.2:p.Leu45= NC_000005.10:177516727:T:C p.(Leu45=) NC_000005.10:177516727:T:C p.(Leu45=) NC_000005.10:177516727:T:C Identity +NM_001127208.3:c.2901A>G NP_001120680.1:p.Gln967= NC_000004.12:105236842:A:G p.(Gln967=) NC_000004.12:105236842:A:G p.(Gln967=) NC_000004.12:105236842:A:G Identity +NM_001012511.3:c.69G>A NP_001012529.1:p.Glu23= NC_000017.11:46929558:G:A p.(Glu23=) NC_000017.11:46929558:G:A p.(Glu23=) NC_000017.11:46929558:G:A Identity +NM_000036.3:c.264A>T NP_000027.3:p.Leu88= NC_000001.11:114686861:T:A p.(Leu88=) NC_000001.11:114686861:T:A p.(Leu88=) NC_000001.11:114686861:T:A Identity +NM_000051.4:c.1584T>G NP_000042.3:p.Thr528= NC_000011.10:108251048:T:G p.(Thr528=) NC_000011.10:108251048:T:G p.(Thr528=) NC_000011.10:108251048:T:G Identity +NM_001317184.2:c.36G>A NP_001304113.1:p.Leu12= NC_000016.10:68737450:G:A p.(Leu12=) NC_000016.10:68737450:G:A p.(Leu12=) NC_000016.10:68737450:G:A Identity +NM_001010895.4:c.396G>T NP_001010895.2:p.Arg132= NC_000009.12:95881217:G:T p.(Arg132=) NC_000009.12:95881217:G:T p.(Arg132=) NC_000009.12:95881217:G:T Identity +NM_000152.5:c.2808C>T NP_000143.2:p.Asp936= NC_000017.11:80119279:C:T p.(Asp936=) NC_000017.11:80119279:C:T p.(Asp936=) NC_000017.11:80119279:C:T Identity +NM_001166292.2:c.996C>T NP_001159764.1:p.Phe332= NC_000001.11:44829700:G:A p.(Phe332=) NC_000001.11:44829700:G:A p.(Phe332=) NC_000001.11:44829700:G:A Identity +NM_001291285.3:c.579G>A NP_001278214.1:p.Pro193= NC_000004.12:125316989:G:A p.(Pro193=) NC_000004.12:125316989:G:A p.(Pro193=) NC_000004.12:125316989:G:A Identity +NM_001285829.2:c.375C>T NP_001272758.1:p.Ala125= NC_000019.10:33301682:G:A p.(Ala125=) NC_000019.10:33301682:G:A p.(Ala125=) NC_000019.10:33301682:G:A Identity +NM_001127384.3:c.2268C>T NP_001120856.1:p.Cys756= NC_000010.11:65966743:G:A p.(Cys756=) NC_000010.11:65966743:G:A p.(Cys756=) NC_000010.11:65966743:G:A Identity +NM_001276270.2:c.465T>C NP_001263199.1:p.Tyr155= NC_000003.12:129437178:A:G p.(Tyr155=) NC_000003.12:129437178:A:G p.(Tyr155=) NC_000003.12:129437178:A:G Identity +NM_001267722.2:c.1011C>T NP_001254651.1:p.Ser337= NC_000004.12:56487982:C:T p.(Ser337=) NC_000004.12:56487982:C:T p.(Ser337=) NC_000004.12:56487982:C:T Identity +NM_000264.5:c.3282G>A NP_000255.2:p.Val1094= NC_000009.12:95456299:C:T p.(Val1094=) NC_000009.12:95456299:C:T p.(Val1094=) NC_000009.12:95456299:C:T Identity +NM_000264.5:c.492A>G NP_000255.2:p.Glu164= NC_000009.12:95485776:T:C p.(Glu164=) NC_000009.12:95485776:T:C p.(Glu164=) NC_000009.12:95485776:T:C Identity +NM_001105077.4:c.1146G>A NP_001098547.3:p.Leu382= NC_000003.12:169116356:C:T p.(Leu382=) NC_000003.12:169116356:C:T p.(Leu382=) NC_000003.12:169116356:C:T Identity +NM_000096.4:c.18T>C NP_000087.2:p.Leu6= NC_000003.12:149221774:A:G p.(Leu6=) NC_000003.12:149221774:A:G p.(Leu6=) NC_000003.12:149221774:A:G Identity +NM_001130009.3:c.1923A>C NP_001123481.3:p.Ala641= NC_000002.12:17781134:A:C p.(Ala641=) NC_000002.12:17781134:A:C p.(Ala641=) NC_000002.12:17781134:A:C Identity +NM_001122633.3:c.1516C>T NP_001116105.2:p.Leu506= NC_000002.12:210599527:C:T p.(Leu506=) NC_000002.12:210599527:C:T p.(Leu506=) NC_000002.12:210599527:C:T Identity +NM_000152.5:c.288G>A NP_000143.2:p.Lys96= NC_000017.11:80104873:G:A p.(Lys96=) NC_000017.11:80104873:G:A p.(Lys96=) NC_000017.11:80104873:G:A Identity +NM_001141945.3:c.114A>G NP_001135417.1:p.Gly38= NC_000010.11:88948816:T:C p.(Gly38=) NC_000010.11:88948816:T:C p.(Gly38=) NC_000010.11:88948816:T:C Identity +NM_000244.4:c.1824C>G NP_000235.3:p.Leu608= NC_000011.10:64804357:G:C p.(Leu608=) NC_000011.10:64804357:G:C p.(Leu608=) NC_000011.10:64804357:G:C Identity +NM_000244.4:c.528G>A NP_000235.3:p.Arg176= NC_000011.10:64808031:C:T p.(Arg176=) NC_000011.10:64808031:C:T p.(Arg176=) NC_000011.10:64808031:C:T Identity +NM_000244.4:c.330G>A NP_000235.3:p.Gly110= NC_000011.10:64809779:C:T p.(Gly110=) NC_000011.10:64809779:C:T p.(Gly110=) NC_000011.10:64809779:C:T Identity +NM_001099952.4:c.1867C>A NP_001093422.2:p.Arg623= NC_000003.12:4667529:C:A p.(Arg623=) NC_000003.12:4667529:C:A p.(Arg623=) NC_000003.12:4667529:C:A Identity +NM_002016.2:c.6225C>T NP_002007.1:p.Ser2075= NC_000001.11:152308660:G:A p.(Ser2075=) NC_000001.11:152308660:G:A p.(Ser2075=) NC_000001.11:152308660:G:A Identity +NM_002440.4:c.444G>T NP_002431.2:p.Ala148= NC_000001.11:75806996:G:T p.(Ala148=) NC_000001.11:75806996:G:T p.(Ala148=) NC_000001.11:75806996:G:T Identity +NM_031962.3:c.432T>C NP_114168.1:p.Cys144= NC_000017.11:41232932:T:C p.(Cys144=) NC_000017.11:41232932:T:C p.(Cys144=) NC_000017.11:41232932:T:C Identity +NM_001166419.2:c.769T>C NP_001159891.1:p.Ter257Gln NC_000023.11:72474697:A:G p.(Ter257GlnextTer18) NC_000023.11:72474697:A:G p.(Ter257GlnextTer18) NC_000023.11:72474697:A:G Analogous +NM_001367773.1:c.2580G>A NP_001354702.1:p.Thr860= NC_000007.14:158734227:C:T p.(Thr860=) NC_000007.14:158734227:C:T p.(Thr860=) NC_000007.14:158734227:C:T Identity +NM_001308120.2:c.549A>G NP_001295049.1:p.Gln183= NC_000014.9:44962969:A:G p.(Gln183=) NC_000014.9:44962969:A:G p.(Gln183=) NC_000014.9:44962969:A:G Identity +NM_001195604.2:c.27G>A NP_001182533.1:p.Pro9= NC_000010.11:13344923:C:T p.(Pro9=) NC_000010.11:13344923:C:T p.(Pro9=) NC_000010.11:13344923:C:T Identity +NM_001372044.2:c.3546C>T NP_001358973.1:p.Pro1182= NC_000022.11:50721153:C:T p.(Ala1182=) NC_000022.11:50721192:C:T p.(Ala1182=) NC_000022.11:50721192:C:T Analogous +NM_001286074.2:c.3771G>A NP_001273003.2:p.Glu1257= NC_000023.11:71398721:G:A p.(Glu1257=) NC_000023.11:71398721:G:A p.(Glu1257=) NC_000023.11:71398721:G:A Identity +NM_001177310.2:c.2523G>A NP_001170781.1:p.Thr841= NC_000009.12:74792623:C:T p.(Thr841=) NC_000009.12:74792623:C:T p.(Thr841=) NC_000009.12:74792623:C:T Identity +NM_002165.4:c.210C>T NP_002156.2:p.Asn70= NC_000020.11:31605596:C:T p.(Asn70=) NC_000020.11:31605596:C:T p.(Asn70=) NC_000020.11:31605596:C:T Identity +NM_001170538.1:c.1375C>T NP_001164009.1:p.Leu459= NC_000003.12:138077545:G:A p.(Leu459=) NC_000003.12:138077545:G:A p.(Leu459=) NC_000003.12:138077545:G:A Identity +NM_001290307.3:c.552G>A NP_001277236.1:p.Val184= NC_000005.10:138812265:G:A p.(Val184=) NC_000005.10:138812265:G:A p.(Val184=) NC_000005.10:138812265:G:A Identity +NM_000296.4:c.11154G>T NP_000287.4:p.Arg3718= NC_000016.10:2092591:C:A p.(Arg3718=) NC_000016.10:2092591:C:A p.(Arg3718=) NC_000016.10:2092591:C:A Identity +NM_000296.4:c.3894C>T NP_000287.4:p.Arg1298= NC_000016.10:2111272:G:A p.(Arg1298=) NC_000016.10:2111272:G:A p.(Arg1298=) NC_000016.10:2111272:G:A Identity +NM_000297.4:c.567_568delinsAA NP_000288.1:p.Trp189_Ala190delinsTer NC_000004.12:88008299:GG:AA p.(Trp189Ter) NC_000004.12:88008299:GG:AA p.(Trp189Ter) NC_000004.12:88008299:GG:AA Analogous +NM_001154458.3:c.435del NP_001147930.1:p.Pro145_Val146insTer NC_000016.10:4783705:GGG:GG p.(Val146Ter) NC_000016.10:4783705:GGG:GG p.(Val146Ter) NC_000016.10:4783705:G: Analogous +NM_001300823.2:c.630T>C NP_001287752.1:p.Val210= NC_000004.12:120818372:A:G p.(Val210=) NC_000004.12:120818372:A:G p.(Val210=) NC_000004.12:120818372:A:G Identity +NM_001321809.2:c.516G>A NP_001308738.1:p.Leu172= NC_000014.9:67885931:G:A p.(Leu172=) NC_000014.9:67885931:G:A p.(Leu172=) NC_000014.9:67885931:G:A Identity +NM_001321809.2:c.639T>G NP_001308738.1:p.Ala213= NC_000014.9:67887086:T:G p.(Ala213=) NC_000014.9:67887086:T:G p.(Ala213=) NC_000014.9:67887086:T:G Identity +NM_001134363.3:c.2136A>G NP_001127835.2:p.Lys712= NC_000010.11:110812532:A:G p.(Lys712=) NC_000010.11:110812532:A:G p.(Lys712=) NC_000010.11:110812532:A:G Identity +NM_002907.4:c.1305G>A NP_002898.2:p.Val435= NC_000012.12:21474890:C:T p.(Val435=) NC_000012.12:21474890:C:T p.(Val435=) NC_000012.12:21474890:C:T Identity +NM_001413017.1:c.876A>G NP_001399946.1:p.Val292= NC_000008.11:144516242:T:C p.(Val292=) NC_000008.11:144516242:T:C p.(Val292=) NC_000008.11:144516242:T:C Identity +NM_001283009.2:c.738C>A NP_001269938.1:p.Val246= NC_000020.11:63672593:C:A p.(Val246=) NC_000020.11:63672593:C:A p.(Val246=) NC_000020.11:63672593:C:A Identity +NM_001363734.1:c.1938C>G NP_001350663.1:p.Thr646= NC_000020.11:32434832:C:G p.(Thr646=) NC_000020.11:32434832:C:G p.(Thr646=) NC_000020.11:32434832:C:G Identity +NM_015338.6:c.703C>A NP_056153.2:p.Arg235= NC_000020.11:32430037:C:A p.(Arg235=) NC_000020.11:32430037:C:A p.(Arg235=) NC_000020.11:32430037:C:A Identity +NM_001363734.1:c.2470T>C NP_001350663.1:p.Leu824= NC_000020.11:32435364:T:C p.(Leu824=) NC_000020.11:32435364:T:C p.(Leu824=) NC_000020.11:32435364:T:C Identity +NM_001363734.1:c.2361A>G NP_001350663.1:p.Thr787= NC_000020.11:32435255:A:G p.(Thr787=) NC_000020.11:32435255:A:G p.(Thr787=) NC_000020.11:32435255:A:G Identity +NM_001193307.2:c.2829A>C NP_001180236.1:p.Gly943= NC_000007.14:93103268:T:G p.(Gly943=) NC_000007.14:93103268:T:G p.(Gly943=) NC_000007.14:93103268:T:G Identity +NM_001193307.2:c.4270C>T NP_001180236.1:p.Leu1424= NC_000007.14:93101827:G:A p.(Leu1424=) NC_000007.14:93101827:G:A p.(Leu1424=) NC_000007.14:93101827:G:A Identity +NM_001193307.2:c.249T>C NP_001180236.1:p.Ile83= NC_000007.14:93105848:A:G p.(Ile83=) NC_000007.14:93105848:A:G p.(Ile83=) NC_000007.14:93105848:A:G Identity +NM_001193307.2:c.954T>C NP_001180236.1:p.Tyr318= NC_000007.14:93105143:A:G p.(Tyr318=) NC_000007.14:93105143:A:G p.(Tyr318=) NC_000007.14:93105143:A:G Identity +NM_001193307.2:c.1257A>G NP_001180236.1:p.Lys419= NC_000007.14:93104840:T:C p.(Lys419=) NC_000007.14:93104840:T:C p.(Lys419=) NC_000007.14:93104840:T:C Identity +NM_001303496.3:c.2907A>G NP_001290425.1:p.Thr969= NC_000007.14:93133064:T:C p.(Thr969=) NC_000007.14:93133064:T:C p.(Thr969=) NC_000007.14:93133064:T:C Identity +NM_001363734.1:c.2076C>T NP_001350663.1:p.Pro692= NC_000020.11:32434970:C:T p.(Pro692=) NC_000020.11:32434970:C:T p.(Pro692=) NC_000020.11:32434970:C:T Identity +NM_001303496.3:c.4099C>T NP_001290425.1:p.Leu1367= NC_000007.14:93131872:G:A p.(Leu1367=) NC_000007.14:93131872:G:A p.(Leu1367=) NC_000007.14:93131872:G:A Identity +NM_001363734.1:c.3030G>A NP_001350663.1:p.Ala1010= NC_000020.11:32435924:G:A p.(Ala1010=) NC_000020.11:32435924:G:A p.(Ala1010=) NC_000020.11:32435924:G:A Identity +NM_016038.4:c.669A>C NP_057122.2:p.Leu223= NC_000007.14:66988454:T:G p.(Leu223=) NC_000007.14:66988454:T:G p.(Leu223=) NC_000007.14:66988454:T:G Identity +NM_016038.4:c.633G>C NP_057122.2:p.Leu211= NC_000007.14:66988490:C:G p.(Leu211=) NC_000007.14:66988490:C:G p.(Leu211=) NC_000007.14:66988490:C:G Identity +NM_001363734.1:c.3792T>C NP_001350663.1:p.Leu1264= NC_000020.11:32436686:T:C p.(Leu1264=) NC_000020.11:32436686:T:C p.(Leu1264=) NC_000020.11:32436686:T:C Identity +NM_001363734.1:c.3570G>A NP_001350663.1:p.Gln1190= NC_000020.11:32436464:G:A p.(Gln1190=) NC_000020.11:32436464:G:A p.(Gln1190=) NC_000020.11:32436464:G:A Identity +NM_001363734.1:c.1443T>C NP_001350663.1:p.Leu481= NC_000020.11:32433823:T:C p.(Leu481=) NC_000020.11:32433823:T:C p.(Leu481=) NC_000020.11:32433823:T:C Identity +NM_001363734.1:c.723T>G NP_001350663.1:p.Arg241= NC_000020.11:32431605:T:G p.(Arg241=) NC_000020.11:32431605:T:G p.(Arg241=) NC_000020.11:32431605:T:G Identity +NM_001080451.2:c.228G>A NP_001073920.1:p.Ser76= NC_000014.9:94448546:C:T p.(Ser76=) NC_000014.9:94448546:C:T p.(Ser76=) NC_000014.9:94448546:C:T Identity +NM_001291424.1:c.726G>A NP_001278353.1:p.Ser242= NC_000012.12:111447750:G:A p.(Ser242=) NC_000012.12:111447750:G:A p.(Ser242=) NC_000012.12:111447750:G:A Identity +NM_001291424.1:c.396C>T NP_001278353.1:p.Ser132= NC_000012.12:111447199:C:T p.(Ser132=) NC_000012.12:111447199:C:T p.(Ser132=) NC_000012.12:111447199:C:T Identity +NM_001142392.3:c.360G>A NP_001135864.1:p.Val120= NC_000023.11:154488580:C:T p.(Val120=) NC_000023.11:154488580:C:T p.(Val120=) NC_000023.11:154488580:C:T Identity +NM_001367971.1:c.3831C>T NP_001354900.1:p.Asp1277= NC_000011.10:64902308:G:A p.(Asp1277=) NC_000011.10:64902308:G:A p.(Asp1277=) NC_000011.10:64902308:G:A Identity +NM_152594.3:c.930A>T NP_689807.1:p.Val310= NC_000015.10:38351258:A:T p.(Val310=) NC_000015.10:38351258:A:T p.(Val310=) NC_000015.10:38351258:A:T Identity +NM_152594.3:c.63G>A NP_689807.1:p.Val21= NC_000015.10:38299402:G:A p.(Val21=) NC_000015.10:38299402:G:A p.(Val21=) NC_000015.10:38299402:G:A Identity +NM_001267722.2:c.699A>G NP_001254651.1:p.Val233= NC_000004.12:56483194:A:G p.(Val233=) NC_000004.12:56483194:A:G p.(Val233=) NC_000004.12:56483194:A:G Identity +NM_001267722.2:c.240C>G NP_001254651.1:p.Leu80= NC_000004.12:56471728:C:G p.(Leu80=) NC_000004.12:56471728:C:G p.(Leu80=) NC_000004.12:56471728:C:G Identity +NM_001127208.3:c.804G>A NP_001120680.1:p.Ser268= NC_000004.12:105234745:G:A p.(Ser268=) NC_000004.12:105234745:G:A p.(Ser268=) NC_000004.12:105234745:G:A Identity +NM_001127208.3:c.1302C>T NP_001120680.1:p.His434= NC_000004.12:105235243:C:T p.(His434=) NC_000004.12:105235243:C:T p.(His434=) NC_000004.12:105235243:C:T Identity +NM_001127208.3:c.1746T>C NP_001120680.1:p.Asn582= NC_000004.12:105235687:T:C p.(Asn582=) NC_000004.12:105235687:T:C p.(Asn582=) NC_000004.12:105235687:T:C Identity +NM_001127208.3:c.1137T>C NP_001120680.1:p.Ala379= NC_000004.12:105235078:T:C p.(Ala379=) NC_000004.12:105235078:T:C p.(Ala379=) NC_000004.12:105235078:T:C Identity +NM_001127208.3:c.3036A>G NP_001120680.1:p.Pro1012= NC_000004.12:105236977:A:G p.(Pro1012=) NC_000004.12:105236977:A:G p.(Pro1012=) NC_000004.12:105236977:A:G Identity +NM_001099274.3:c.213G>A NP_001092744.1:p.Leu71= NC_000014.9:24241973:C:T p.(Leu71=) NC_000014.9:24241973:C:T p.(Leu71=) NC_000014.9:24241973:C:T Identity +NM_001695.5:c.573G>A NP_001686.1:p.Lys191= NC_000008.11:103055867:G:A p.(Lys191=) NC_000008.11:103055867:G:A p.(Lys191=) NC_000008.11:103055867:G:A Identity +NM_000364.4:c.534T>G NP_000355.2:p.Ala178= NC_000001.11:201363361:A:C p.(Ala178=) NC_000001.11:201363361:A:C p.(Ala178=) NC_000001.11:201363361:A:C Identity +NM_001271022.2:c.621T>C NP_001257951.1:p.Ser207= NC_000003.12:48459862:T:C p.(Ser207=) NC_000003.12:48459862:T:C p.(Ser207=) NC_000003.12:48459862:T:C Identity +NM_001271023.2:c.84C>T NP_001257952.1:p.Tyr28= NC_000003.12:48450151:C:T p.(Tyr28=) NC_000003.12:48450151:C:T p.(Tyr28=) NC_000003.12:48450151:C:T Identity +NM_001256850.1:c.2262C>G NP_001243779.1:p.Ala754= NC_000002.12:178785955:G:C p.(Ala754=) NC_000002.12:178785955:G:C p.(Ala754=) NC_000002.12:178785955:G:C Identity +NM_001256850.1:c.48129A>C NP_001243779.1:p.Ile16043= NC_000002.12:178607635:T:G p.(Ile16043=) NC_000002.12:178607635:T:G p.(Ile16043=) NC_000002.12:178607635:T:G Identity +NM_001256850.1:c.66489G>A NP_001243779.1:p.Gln22163= NC_000002.12:178574719:C:T p.(Gln22163=) NC_000002.12:178574719:C:T p.(Gln22163=) NC_000002.12:178574719:C:T Identity +NM_001195302.2:c.729G>A NP_001182231.1:p.Ser243= NC_000016.10:58020229:G:A p.(Ser243=) NC_000016.10:58020229:G:A p.(Ser243=) NC_000016.10:58020229:G:A Identity +NM_001282394.3:c.4512C>T NP_001269323.1:p.Asp1504= NC_000009.12:93289154:C:T p.(Asp1504=) NC_000009.12:93289154:C:T p.(Asp1504=) NC_000009.12:93289154:C:T Identity +NM_001282394.3:c.2232G>A NP_001269323.1:p.Leu744= NC_000009.12:93256988:G:A p.(Leu744=) NC_000009.12:93256988:G:A p.(Leu744=) NC_000009.12:93256988:G:A Identity +NM_001282394.3:c.2925C>G NP_001269323.1:p.Pro975= NC_000009.12:93259472:C:G p.(Pro975=) NC_000009.12:93259472:C:G p.(Pro975=) NC_000009.12:93259472:C:G Identity +NM_001282394.3:c.39G>T NP_001269323.1:p.Thr13= NC_000009.12:93184967:G:T p.(Thr13=) NC_000009.12:93184967:G:T p.(Thr13=) NC_000009.12:93184967:G:T Identity +NM_001282394.3:c.2883G>T NP_001269323.1:p.Thr961= NC_000009.12:93259430:G:T p.(Thr961=) NC_000009.12:93259430:G:T p.(Thr961=) NC_000009.12:93259430:G:T Identity +NM_001282394.3:c.2910G>A NP_001269323.1:p.Pro970= NC_000009.12:93259457:G:A p.(Pro970=) NC_000009.12:93259457:G:A p.(Pro970=) NC_000009.12:93259457:G:A Identity +NM_001282394.3:c.4509G>A NP_001269323.1:p.Arg1503= NC_000009.12:93289151:G:A p.(Arg1503=) NC_000009.12:93289151:G:A p.(Arg1503=) NC_000009.12:93289151:G:A Identity +NM_001282394.3:c.4581G>A NP_001269323.1:p.Gln1527= NC_000009.12:93289223:G:A p.(Gln1527=) NC_000009.12:93289223:G:A p.(Gln1527=) NC_000009.12:93289223:G:A Identity +NM_001282394.3:c.1752C>G NP_001269323.1:p.Pro584= NC_000009.12:93247751:C:G p.(Pro584=) NC_000009.12:93247751:C:G p.(Pro584=) NC_000009.12:93247751:C:G Identity +NM_001282394.3:c.672T>C NP_001269323.1:p.Cys224= NC_000009.12:93185600:T:C p.(Cys224=) NC_000009.12:93185600:T:C p.(Cys224=) NC_000009.12:93185600:T:C Identity +NM_001282394.3:c.2826G>A NP_001269323.1:p.Pro942= NC_000009.12:93259373:G:A p.(Pro942=) NC_000009.12:93259373:G:A p.(Pro942=) NC_000009.12:93259373:G:A Identity +NM_000378.6:c.1347C>A NP_000369.4:p.Ser449= NC_000011.10:32392020:G:T p.(Ser449=) NC_000011.10:32392020:G:T p.(Ser449=) NC_000011.10:32392020:G:T Identity +NM_003403.5:c.570C>T NP_003394.1:p.Ala190= NC_000014.9:100239813:C:T p.(Ala190=) NC_000014.9:100239813:C:T p.(Ala190=) NC_000014.9:100239813:C:T Identity +NM_001367624.2:c.10700_10702delinsAAA NP_001354553.1:p.Gly3567_Asp3568delinsGluAsn NC_000016.10:88438169:GAG:AAA p.(Gly3567_Asp3568delinsGluAsn) NC_000016.10:88438169:GAG:AAA p.(Gly3567_Asp3568delinsGluAsn) NC_000016.10:88438169:GAG:AAA Identity +NM_020928.2:c.492_527del NP_065979.1:p.Thr167_Ala178del NC_000005.10:61332761:GCGGCCGCAACCTCGGCCGCCGCCGCCGCTGCCGCCGC:GC p.(Thr167_Ala178del) NC_000005.10:61332761:GCGGCCGCAACCTCGGCCGCCGCCGCCGCTGCCGCCGC:GC p.(Thr167_Ala178del) NC_000005.10:61332763:GGCCGCAACCTCGGCCGCCGCCGCCGCTGCCGCCGC: Identity +NM_001204.7:c.1863G>C NP_001195.2:p.Thr621= NC_000002.12:202555527:G:C p.(Thr621=) NC_000002.12:202555527:G:C p.(Thr621=) NC_000002.12:202555527:G:C Identity +NM_018321.4:c.405C>T NP_060791.3:p.His135= NC_000005.10:34922556:C:T p.(His135=) NC_000005.10:34922556:C:T p.(His135=) NC_000005.10:34922556:C:T Identity +NM_001306079.2:c.996T>C NP_001293008.1:p.Ser332= NC_000002.12:27223916:T:C p.(Ser332=) NC_000002.12:27223916:T:C p.(Ser332=) NC_000002.12:27223916:T:C Identity +NM_001198868.2:c.1068C>T NP_001185797.1:p.Asp356= NC_000011.10:65188648:C:T p.(Asp356=) NC_000011.10:65188648:C:T p.(Asp356=) NC_000011.10:65188648:C:T Identity +NM_000388.4:c.1107T>C NP_000379.3:p.Pro369= NC_000003.12:122262141:T:C p.(Pro369=) NC_000003.12:122262141:T:C p.(Pro369=) NC_000003.12:122262141:T:C Identity +NM_001753.5:c.27G>T NP_001744.2:p.Ser9= NC_000007.14:116525088:G:T p.(Ser9=) NC_000007.14:116525088:G:T p.(Ser9=) NC_000007.14:116525088:G:T Identity +NM_001411054.1:c.4632A>G NP_001397983.1:p.Arg1544= NC_000014.9:102939726:T:C p.(Arg1544=) NC_000014.9:102939726:T:C p.(Arg1544=) NC_000014.9:102939726:T:C Identity +NM_015083.4:c.543G>A NP_055898.1:p.Lys181= NC_000017.11:39462613:G:A p.(Lys181=) NC_000017.11:39462613:G:A p.(Lys181=) NC_000017.11:39462613:G:A Identity +NM_015083.4:c.4032T>C NP_055898.1:p.Thr1344= NC_000017.11:39530901:T:C p.(Thr1344=) NC_000017.11:39530901:T:C p.(Thr1344=) NC_000017.11:39530901:T:C Identity +NM_015083.4:c.1344C>A NP_055898.1:p.Pro448= NC_000017.11:39471175:C:A p.(Pro448=) NC_000017.11:39471175:C:A p.(Pro448=) NC_000017.11:39471175:C:A Identity +NM_015083.4:c.3705C>T NP_055898.1:p.Asn1235= NC_000017.11:39526260:C:T p.(Asn1235=) NC_000017.11:39526260:C:T p.(Asn1235=) NC_000017.11:39526260:C:T Identity +NM_015083.4:c.234T>C NP_055898.1:p.Ser78= NC_000017.11:39462304:T:C p.(Ser78=) NC_000017.11:39462304:T:C p.(Ser78=) NC_000017.11:39462304:T:C Identity +NM_001285829.2:c.285C>A NP_001272758.1:p.Gly95= NC_000019.10:33301772:G:T p.(Gly95=) NC_000019.10:33301772:G:T p.(Gly95=) NC_000019.10:33301772:G:T Identity +NM_001285829.2:c.331_354del NP_001272758.1:p.Thr111_Pro118del NC_000019.10:33301703:GGGGTGCGGGCTGGGCACGGGCGTGGG:GGG p.(Thr111_Pro118del) NC_000019.10:33301703:GGGGTGCGGGCTGGGCACGGGCGTGGG:GGG p.(Thr111_Pro118del) NC_000019.10:33301703:GGGGTGCGGGCTGGGCACGGGCGT: Identity +NM_001285829.2:c.402C>G NP_001272758.1:p.Leu134= NC_000019.10:33301655:G:C p.(Leu134=) NC_000019.10:33301655:G:C p.(Leu134=) NC_000019.10:33301655:G:C Identity +NM_001285829.2:c.477G>A NP_001272758.1:p.Val159= NC_000019.10:33301580:C:T p.(Val159=) NC_000019.10:33301580:C:T p.(Val159=) NC_000019.10:33301580:C:T Identity +NM_001243776.2:c.1056A>G NP_001230705.1:p.Ser352= NC_000011.10:95827982:A:G p.(Ser352=) NC_000011.10:95827982:A:G p.(Ser352=) NC_000011.10:95827982:A:G Identity +NM_001243776.2:c.1167G>A NP_001230705.1:p.Glu389= NC_000011.10:95829252:G:A p.(Glu389=) NC_000011.10:95829252:G:A p.(Glu389=) NC_000011.10:95829252:G:A Identity +NM_001365405.1:c.1374T>C NP_001352334.1:p.Gly458= NC_000016.10:66942738:T:C p.(Gly458=) NC_000016.10:66942738:T:C p.(Gly458=) NC_000016.10:66942738:T:C Identity +NM_005502.4:c.5811T>C NP_005493.2:p.Pro1937= NC_000009.12:104791944:A:G p.(Pro1937=) NC_000009.12:104791944:A:G p.(Pro1937=) NC_000009.12:104791944:A:G Identity +NM_000089.4:c.264T>A NP_000080.2:p.Leu88= NC_000007.14:94401604:T:A p.(Leu88=) NC_000007.14:94401604:T:A p.(Leu88=) NC_000007.14:94401604:T:A Identity +NM_000093.5:c.3699A>G NP_000084.3:p.Pro1233= NC_000009.12:134812456:A:G p.(Pro1233=) NC_000009.12:134812456:A:G p.(Pro1233=) NC_000009.12:134812456:A:G Identity +NM_001102608.3:c.6147C>T NP_001096078.1:p.His2049= NC_000003.12:130661952:C:T p.(His2049=) NC_000003.12:130661952:C:T p.(His2049=) NC_000003.12:130661952:C:T Identity +NM_004939.3:c.1797C>T NP_004930.1:p.Tyr599= NC_000002.12:15628674:C:T p.(Tyr599=) NC_000002.12:15628674:C:T p.(Tyr599=) NC_000002.12:15628674:C:T Identity +NM_001321732.2:c.36T>C NP_001308661.1:p.Tyr12= NC_000005.10:177515948:A:G p.(Tyr12=) NC_000005.10:177515948:A:G p.(Tyr12=) NC_000005.10:177515948:A:G Identity +NM_000118.4:c.1761C>G NP_000109.1:p.Leu587= NC_000009.12:127816033:G:C p.(Leu587=) NC_000009.12:127816033:G:C p.(Leu587=) NC_000009.12:127816033:G:C Identity +NM_001114753.3:c.1941C>G NP_001108225.1:p.Thr647= NC_000009.12:127815717:G:C p.(Thr647=) NC_000009.12:127815717:G:C p.(Thr647=) NC_000009.12:127815717:G:C Identity +NM_000118.4:c.1680A>G NP_000109.1:p.Gln560= NC_000009.12:127818125:T:C p.(Gln560=) NC_000009.12:127818125:T:C p.(Gln560=) NC_000009.12:127818125:T:C Identity +NM_004444.5:c.496C>T NP_004435.3:p.Leu166= NC_000007.14:100822582:G:A p.(Leu166=) NC_000007.14:100822582:G:A p.(Leu166=) NC_000007.14:100822582:G:A Identity +NM_001034915.3:c.1149A>C NP_001030087.2:p.Ala383= NC_000008.11:94668165:A:C p.(Ala383=) NC_000008.11:94668165:A:C p.(Ala383=) NC_000008.11:94668165:A:C Identity +NM_001413913.1:c.1188C>T NP_001400842.1:p.Ala396= NC_000012.12:11885963:C:T p.(Ala396=) NC_000012.12:11885963:C:T p.(Ala396=) NC_000012.12:11885963:C:T Identity +NM_001413913.1:c.435C>T NP_001400842.1:p.Val145= NC_000012.12:11853535:C:T p.(Val145=) NC_000012.12:11853535:C:T p.(Val145=) NC_000012.12:11853535:C:T Identity +NM_000135.4:c.276A>G NP_000126.2:p.Ser92= NC_000016.10:89814526:T:C p.(Ser92=) NC_000016.10:89814526:T:C p.(Ser92=) NC_000016.10:89814526:T:C Identity +NM_000135.4:c.900A>C NP_000126.2:p.Gly300= NC_000016.10:89796011:T:G p.(Gly300=) NC_000016.10:89796011:T:G p.(Gly300=) NC_000016.10:89796011:T:G Identity +NM_000135.4:c.1728G>A NP_000126.2:p.Arg576= NC_000016.10:89778990:C:T p.(Arg576=) NC_000016.10:89778990:C:T p.(Arg576=) NC_000016.10:89778990:C:T Identity +NM_000135.4:c.1917G>C NP_000126.2:p.Val639= NC_000016.10:89773367:C:G p.(Val639=) NC_000016.10:89773367:C:G p.(Val639=) NC_000016.10:89773367:C:G Identity +NM_000135.4:c.2751A>G NP_000126.2:p.Arg917= NC_000016.10:89764916:T:C p.(Arg917=) NC_000016.10:89764916:T:C p.(Arg917=) NC_000016.10:89764916:T:C Identity +NM_000135.4:c.2805G>A NP_000126.2:p.Leu935= NC_000016.10:89761995:C:T p.(Leu935=) NC_000016.10:89761995:C:T p.(Leu935=) NC_000016.10:89761995:C:T Identity +NM_004629.2:c.1065A>C NP_004620.1:p.Leu355= NC_000009.12:35076442:T:G p.(Leu355=) NC_000009.12:35076442:T:G p.(Leu355=) NC_000009.12:35076442:T:G Identity +NM_004629.2:c.1587G>A NP_004620.1:p.Gln529= NC_000009.12:35074975:C:T p.(Gln529=) NC_000009.12:35074975:C:T p.(Gln529=) NC_000009.12:35074975:C:T Identity +NM_001308133.2:c.1296T>C NP_001295062.1:p.Ile432= NC_000014.9:45155436:T:C p.(Ile432=) NC_000014.9:45155436:T:C p.(Ile432=) NC_000014.9:45155436:T:C Identity +NM_001308133.2:c.2157T>A NP_001295062.1:p.Pro719= NC_000014.9:45173128:T:A p.(Pro719=) NC_000014.9:45173128:T:A p.(Pro719=) NC_000014.9:45173128:T:A Identity +NM_001308133.2:c.102C>T NP_001295062.1:p.Ser34= NC_000014.9:45136132:C:T p.(Ser34=) NC_000014.9:45136132:C:T p.(Ser34=) NC_000014.9:45136132:C:T Identity +NM_001308133.2:c.1341A>G NP_001295062.1:p.Lys447= NC_000014.9:45159117:A:G p.(Lys447=) NC_000014.9:45159117:A:G p.(Lys447=) NC_000014.9:45159117:A:G Identity +NM_001308133.2:c.5196T>C NP_001295062.1:p.Ser1732= NC_000014.9:45189295:T:C p.(Ser1732=) NC_000014.9:45189295:T:C p.(Ser1732=) NC_000014.9:45189295:T:C Identity +NM_001014431.2:c.1134C>G NP_001014431.1:p.Ser378= NC_000014.9:104772915:G:C p.(Ser378=) NC_000014.9:104772915:G:C p.(Ser378=) NC_000014.9:104772915:G:C Identity +NM_001127487.2:c.5127C>G NP_001120959.1:p.Pro1709= NC_000007.14:128849505:C:G p.(Pro1709=) NC_000007.14:128849505:C:G p.(Pro1709=) NC_000007.14:128849505:C:G Identity +NM_001384165.1:c.180C>T NP_001371094.1:p.Gly60= NC_000017.11:44075076:C:T p.(Gly60=) NC_000017.11:44075076:C:T p.(Gly60=) NC_000017.11:44075076:C:T Identity +NM_024642.5:c.9G>A NP_078918.3:p.Gly3= NC_000009.12:98807706:G:A p.(Gly3=) NC_000009.12:98807706:G:A p.(Gly3=) NC_000009.12:98807706:G:A Identity +NM_024642.5:c.81A>C NP_078918.3:p.Leu27= NC_000009.12:98807778:A:C p.(Leu27=) NC_000009.12:98807778:A:C p.(Leu27=) NC_000009.12:98807778:A:C Identity +NM_021167.5:c.672T>C NP_066990.3:p.His224= NC_000007.14:92456423:T:C p.(His224=) NC_000007.14:92456423:T:C p.(His224=) NC_000007.14:92456423:T:C Identity +NM_016204.4:c.837A>G NP_057288.1:p.Glu279= NC_000010.11:47325330:A:G p.(Glu279=) NC_000010.11:47325330:A:G p.(Glu279=) NC_000010.11:47325330:A:G Identity +NM_015141.4:c.949C>T NP_055956.1:p.Leu317= NC_000003.12:32159663:C:T p.(Leu317=) NC_000003.12:32159663:C:T p.(Leu317=) NC_000003.12:32159663:C:T Identity +NM_001018837.2:c.387C>G NP_001018238.1:p.Pro129= NC_000001.11:154274975:C:G p.(Pro129=) NC_000001.11:154274975:C:G p.(Pro129=) NC_000001.11:154274975:C:G Identity +NM_005477.3:c.1026C>T NP_005468.1:p.Phe342= NC_000015.10:73343567:G:A p.(Phe342=) NC_000015.10:73343567:G:A p.(Phe342=) NC_000015.10:73343567:G:A Identity +NM_000876.4:c.5529C>T NP_000867.3:p.Val1843= NC_000006.12:160079629:C:T p.(Val1843=) NC_000006.12:160079629:C:T p.(Val1843=) NC_000006.12:160079629:C:T Identity +NM_000214.3:c.345C>T NP_000205.1:p.Asn115= NC_000020.11:10672742:G:A p.(Asn115=) NC_000020.11:10672742:G:A p.(Asn115=) NC_000020.11:10672742:G:A Identity +NM_001195610.2:c.102C>T NP_001182539.1:p.Val34= NC_000006.12:24357648:G:A p.(Val34=) NC_000006.12:24357648:G:A p.(Val34=) NC_000006.12:24357648:G:A Identity +NM_015202.5:c.1566G>A NP_056017.4:p.Thr522= NC_000016.10:27708880:G:A p.(Thr522=) NC_000016.10:27708880:G:A p.(Thr522=) NC_000016.10:27708880:G:A Identity +NM_000238.4:c.3027C>T NP_000229.1:p.Tyr1009= NC_000007.14:150947452:G:A p.(Tyr1009=) NC_000007.14:150947452:G:A p.(Tyr1009=) NC_000007.14:150947452:G:A Identity +NM_001009999.3:c.1911C>G NP_001009999.1:p.Thr637= NC_000001.11:23079032:C:G p.(Thr637=) NC_000001.11:23079032:C:G p.(Thr637=) NC_000001.11:23079032:C:G Identity +NM_001009999.3:c.9T>C NP_001009999.1:p.Ser3= NC_000001.11:23019604:T:C p.(Ser3=) NC_000001.11:23019604:T:C p.(Ser3=) NC_000001.11:23019604:T:C Identity +NM_001009999.3:c.660C>T NP_001009999.1:p.Ile220= NC_000001.11:23050468:C:T p.(Ile220=) NC_000001.11:23050468:C:T p.(Ile220=) NC_000001.11:23050468:C:T Identity +NM_001009999.3:c.126G>C NP_001009999.1:p.Ala42= NC_000001.11:23019721:G:C p.(Ala42=) NC_000001.11:23019721:G:C p.(Ala42=) NC_000001.11:23019721:G:C Identity +NM_001009999.3:c.1452G>A NP_001009999.1:p.Gln484= NC_000001.11:23071262:G:A p.(Gln484=) NC_000001.11:23071262:G:A p.(Gln484=) NC_000001.11:23071262:G:A Identity +NM_001009999.3:c.114C>G NP_001009999.1:p.Ala38= NC_000001.11:23019709:C:G p.(Ala38=) NC_000001.11:23019709:C:G p.(Ala38=) NC_000001.11:23019709:C:G Identity +NM_001009999.3:c.1035T>C NP_001009999.1:p.Tyr345= NC_000001.11:23057527:T:C p.(Tyr345=) NC_000001.11:23057527:T:C p.(Tyr345=) NC_000001.11:23057527:T:C Identity +NM_001009999.3:c.135G>C NP_001009999.1:p.Ser45= NC_000001.11:23019730:G:C p.(Ser45=) NC_000001.11:23019730:G:C p.(Ser45=) NC_000001.11:23019730:G:C Identity +NM_001287036.2:c.723C>T NP_001273965.1:p.His241= NC_000009.12:112574802:C:T p.(His241=) NC_000009.12:112574802:C:T p.(His241=) NC_000009.12:112574802:C:T Identity +NM_001148.6:c.5856A>G NP_001139.3:p.Ser1952= NC_000004.12:113354473:A:G p.(Ser1952=) NC_000004.12:113354473:A:G p.(Ser1952=) NC_000004.12:113354473:A:G Identity +NM_001105206.3:c.5334A>G NP_001098676.2:p.Leu1778= NC_000006.12:112109574:T:C p.(Leu1778=) NC_000006.12:112109574:T:C p.(Leu1778=) NC_000006.12:112109574:T:C Identity +NM_001352017.2:c.303C>T NP_001338946.1:p.Pro101= NC_000016.10:871284:G:A p.(Pro101=) NC_000016.10:871284:G:A p.(Pro101=) NC_000016.10:871284:G:A Identity +NM_001256053.2:c.4302A>G NP_001242982.1:p.Leu1434= NC_000010.11:27017702:T:C p.(Leu1434=) NC_000010.11:27017702:T:C p.(Leu1434=) NC_000010.11:27017702:T:C Identity +NM_001256053.2:c.2067A>G NP_001242982.1:p.Ser689= NC_000010.11:27043516:T:C p.(Ser689=) NC_000010.11:27043516:T:C p.(Ser689=) NC_000010.11:27043516:T:C Identity +NM_001130144.3:c.3309C>G NP_001123616.1:p.Ser1103= NC_000011.10:65540088:G:C p.(Ser1103=) NC_000011.10:65540088:G:C p.(Ser1103=) NC_000011.10:65540088:G:C Identity +NM_001256053.2:c.2088T>C NP_001242982.1:p.Asp696= NC_000010.11:27043495:A:G p.(Asp696=) NC_000010.11:27043495:A:G p.(Asp696=) NC_000010.11:27043495:A:G Identity +NM_001256053.2:c.4515A>G NP_001242982.1:p.Ala1505= NC_000010.11:27014699:T:C p.(Ala1505=) NC_000010.11:27014699:T:C p.(Ala1505=) NC_000010.11:27014699:T:C Identity +NM_001256053.2:c.84C>T NP_001242982.1:p.Gly28= NC_000010.11:27100242:G:A p.(Gly28=) NC_000010.11:27100242:G:A p.(Gly28=) NC_000010.11:27100242:G:A Identity +NM_001276270.2:c.949T>C NP_001263199.1:p.Leu317= NC_000003.12:129436694:A:G p.(Leu317=) NC_000003.12:129436694:A:G p.(Leu317=) NC_000003.12:129436694:A:G Identity +NM_001256053.2:c.2632C>T NP_001242982.1:p.Leu878= NC_000010.11:27037247:G:A p.(Leu878=) NC_000010.11:27037247:G:A p.(Leu878=) NC_000010.11:27037247:G:A Identity +NM_001256053.2:c.3888T>C NP_001242982.1:p.Asp1296= NC_000010.11:27028932:A:G p.(Asp1296=) NC_000010.11:27028932:A:G p.(Asp1296=) NC_000010.11:27028932:A:G Identity +NM_001256053.2:c.666A>G NP_001242982.1:p.Lys222= NC_000010.11:27086581:T:C p.(Lys222=) NC_000010.11:27086581:T:C p.(Lys222=) NC_000010.11:27086581:T:C Identity +NM_001105077.4:c.111C>T NP_001098547.3:p.Asn37= NC_000003.12:169143724:G:A p.(Asn37=) NC_000003.12:169143724:G:A p.(Asn37=) NC_000003.12:169143724:G:A Identity +NM_001105077.4:c.147T>C NP_001098547.3:p.Tyr49= NC_000003.12:169131522:A:G p.(Tyr49=) NC_000003.12:169131522:A:G p.(Tyr49=) NC_000003.12:169131522:A:G Identity +NM_001105077.4:c.1419C>T NP_001098547.3:p.Thr473= NC_000003.12:169116083:G:A p.(Thr473=) NC_000003.12:169116083:G:A p.(Thr473=) NC_000003.12:169116083:G:A Identity +NM_005120.3:c.2826C>T NP_005111.2:p.Asp942= NC_000023.11:71127108:C:T p.(Asp942=) NC_000023.11:71127108:C:T p.(Asp942=) NC_000023.11:71127108:C:T Identity +NM_001040108.2:c.3669T>C NP_001035197.1:p.Asp1223= NC_000014.9:75033464:A:G p.(Asp1223=) NC_000014.9:75033464:A:G p.(Asp1223=) NC_000014.9:75033464:A:G Identity +NM_001040108.2:c.2580T>C NP_001035197.1:p.Asn860= NC_000014.9:75047075:A:G p.(Asn860=) NC_000014.9:75047075:A:G p.(Asn860=) NC_000014.9:75047075:A:G Identity +NM_001085049.3:c.273C>T NP_001078518.1:p.Val91= NC_000003.12:138397402:C:T p.(Val91=) NC_000003.12:138397402:C:T p.(Val91=) NC_000003.12:138397402:C:T Identity +NM_001135670.3:c.555C>T NP_001129142.1:p.Thr185= NC_000008.11:10428278:C:T p.(Thr185=) NC_000008.11:10428278:C:T p.(Thr185=) NC_000008.11:10428278:C:T Identity +NM_001377273.1:c.4053G>A NP_001364202.1:p.Gly1351= NC_000012.12:21814692:C:T p.(Gly1351=) NC_000012.12:21814692:C:T p.(Gly1351=) NC_000012.12:21814692:C:T Identity +NM_004387.4:c.573C>T NP_004378.1:p.Tyr191= NC_000005.10:173232970:G:A p.(Tyr191=) NC_000005.10:173232970:G:A p.(Tyr191=) NC_000005.10:173232970:G:A Identity +NM_001098623.2:c.4095G>A NP_001092093.2:p.Gly1365= NC_000001.11:228250025:G:A p.(Gly1365=) NC_000001.11:228250025:G:A p.(Gly1365=) NC_000001.11:228250025:G:A Identity +NM_001098623.2:c.11829C>T NP_001092093.2:p.Thr3943= NC_000001.11:228306540:C:T p.(Thr3943=) NC_000001.11:228306540:C:T p.(Thr3943=) NC_000001.11:228306540:C:T Identity +NM_052843.4:c.19485C>T NP_443075.3:p.Cys6495= NC_000001.11:228360376:C:T p.(Cys6495=) NC_000001.11:228360376:C:T p.(Cys6495=) NC_000001.11:228360376:C:T Identity +NM_001166110.2:c.498C>G NP_001159582.1:p.Thr166= NC_000004.12:168878388:C:G p.(Thr166=) NC_000004.12:168878388:C:G p.(Thr166=) NC_000004.12:168878388:C:G Identity +NM_000384.3:c.10137C>T NP_000375.3:p.Tyr3379= NC_000002.12:21006730:G:A p.(Tyr3379=) NC_000002.12:21006730:G:A p.(Tyr3379=) NC_000002.12:21006730:G:A Identity +NM_001365906.3:c.2355C>T NP_001352835.1:p.Gly785= NC_000014.9:73262458:C:T p.(Gly785=) NC_000014.9:73262458:C:T p.(Gly785=) NC_000014.9:73262458:C:T Identity +NM_001280548.2:c.240T>G NP_001267477.1:p.Pro80= NC_000009.12:37015166:A:C p.(Pro80=) NC_000009.12:37015166:A:C p.(Pro80=) NC_000009.12:37015166:A:C Identity +NM_001280547.2:c.111C>A NP_001267476.1:p.Val37= NC_000009.12:37020736:G:T p.(Val37=) NC_000009.12:37020736:G:T p.(Val37=) NC_000009.12:37020736:G:T Identity +NM_000041.4:c.729C>T NP_000032.1:p.Thr243= NC_000019.10:44909024:C:T p.(Thr243=) NC_000019.10:44909024:C:T p.(Thr243=) NC_000019.10:44909024:C:T Identity +NM_005482.3:c.1035T>C NP_005473.1:p.Tyr345= NC_000001.11:77122310:A:G p.(Tyr345=) NC_000001.11:77122310:A:G p.(Tyr345=) NC_000001.11:77122310:A:G Identity +NM_006218.4:c.2613G>A NP_006209.2:p.Gln871= NC_000003.12:179229388:G:A p.(Gln871=) NC_000003.12:179229388:G:A p.(Gln871=) NC_000003.12:179229388:G:A Identity +NM_001367868.2:c.3774C>T NP_001354797.1:p.Asp1258= NC_000019.10:4504875:G:A p.(Asp1258=) NC_000019.10:4504875:G:A p.(Asp1258=) NC_000019.10:4504875:G:A Identity +NM_000296.4:c.4653C>T NP_000287.4:p.Leu1551= NC_000016.10:2110513:G:A p.(Leu1551=) NC_000016.10:2110513:G:A p.(Leu1551=) NC_000016.10:2110513:G:A Identity +NM_000071.3:c.699C>T NP_000062.1:p.Tyr233= NC_000021.9:43065239:G:A p.(Tyr233=) NC_000021.9:43065239:G:A p.(Tyr233=) NC_000021.9:43065239:G:A Identity +NM_001040113.2:c.5538G>A NP_001035202.1:p.Ala1846= NC_000016.10:15715259:C:T p.(Ala1846=) NC_000016.10:15715259:C:T p.(Ala1846=) NC_000016.10:15715259:C:T Identity +NM_000335.5:c.4563C>T NP_000326.2:p.Phe1521= NC_000003.12:38554525:G:A p.(Phe1521=) NC_000003.12:38554525:G:A p.(Phe1521=) NC_000003.12:38554525:G:A Identity +NM_000109.4:c.5481A>G NP_000100.3:p.Gln1827= NC_000023.11:32346023:T:C p.(Gln1827=) NC_000023.11:32346023:T:C p.(Gln1827=) NC_000023.11:32346023:T:C Identity +NM_001302455.2:c.251_254delinsAGGG NP_001289384.1:p.Ala84_Ala85delinsGluGly NC_000020.11:59301607:CGGC:AGGG p.(Ala84_Ala85delinsGluGly) NC_000020.11:59301607:CGGC:AGGG p.(Ala84_Ala85delinsGluGly) NC_000020.11:59301607:CGGC:AGGG Identity +NM_001256850.1:c.20394A>C NP_001243779.1:p.Thr6798= NC_000002.12:178723913:T:G p.(Thr6798=) NC_000002.12:178723913:T:G p.(Thr6798=) NC_000002.12:178723913:T:G Identity +NM_001024858.4:c.884_925del NP_001020029.1:p.Asp295_Ser308del NC_000014.9:64799885:CGCTGTACTTTTCAATCATCTTCTCAGTCTCAATGGCATGGTC:C p.(Asp295_Ser308del) NC_000014.9:64799885:CGCTGTACTTTTCAATCATCTTCTCAGTCTCAATGGCATGGTC:C p.(Asp295_Ser308del) NC_000014.9:64799885:CGCTGTACTTTTCAATCATCTTCTCAGTCTCAATGGCATGGT: Identity +NM_000138.5:c.7050C>A NP_000129.3:p.Ile2350= NC_000015.10:48427720:G:T p.(Ile2350=) NC_000015.10:48427720:G:T p.(Ile2350=) NC_000015.10:48427720:G:T Identity +NM_000335.5:c.4881C>T NP_000326.2:p.Ala1627= NC_000003.12:38551487:G:A p.(Ala1627=) NC_000003.12:38551487:G:A p.(Ala1627=) NC_000003.12:38551487:G:A Identity +NM_001040113.2:c.2820G>A NP_001035202.1:p.Glu940= NC_000016.10:15741522:C:T p.(Glu940=) NC_000016.10:15741522:C:T p.(Glu940=) NC_000016.10:15741522:C:T Identity +NM_000138.5:c.7494C>T NP_000129.3:p.Phe2498= NC_000015.10:48422027:G:A p.(Phe2498=) NC_000015.10:48422027:G:A p.(Phe2498=) NC_000015.10:48422027:G:A Identity +NM_000238.4:c.2985C>T NP_000229.1:p.Ser995= NC_000007.14:150947494:G:A p.(Ser995=) NC_000007.14:150947494:G:A p.(Ser995=) NC_000007.14:150947494:G:A Identity +NM_001256850.1:c.1641G>A NP_001243779.1:p.Gln547= NC_000002.12:178792092:C:T p.(Gln547=) NC_000002.12:178792092:C:T p.(Gln547=) NC_000002.12:178792092:C:T Identity +NM_001166175.2:c.300C>T NP_001159647.1:p.Pro100= NC_000005.10:173234783:G:A p.(Pro100=) NC_000005.10:173234783:G:A p.(Pro100=) NC_000005.10:173234783:G:A Identity +NM_001195227.2:c.2775C>T NP_001182156.1:p.His925= NC_000019.10:49210286:C:T p.(His925=) NC_000019.10:49210286:C:T p.(His925=) NC_000019.10:49210286:C:T Identity +NM_000256.3:c.2528_2542del NP_000247.2:p.Glu843_Tyr847del NC_000011.10:47337450:CGTAGACGCGCATCTCGTA:CGTA p.(Glu843_Tyr847del) NC_000011.10:47337450:CGTAGACGCGCATCTCGTA:CGTA p.(Glu843_Tyr847del) NC_000011.10:47337450:CGTAGACGCGCATCT: Identity +NM_000433.4:c.55_63del NP_000424.2:p.Lys19_Asp21del NC_000001.11:183590266:GTCCTTCTTGTCC:GTCC p.(Lys19_Asp21del) NC_000001.11:183590266:GTCCTTCTTGTCC:GTCC p.(Lys19_Asp21del) NC_000001.11:183590266:GTCCTTCTT: Identity +NM_001375644.1:c.260_261insATAAACTT NP_001362573.1:p.Asp87delinsGluTer NC_000004.12:145639399::ATAAACTT p.(Asp87GlufsTer2) NC_000004.12:145639398:A:ATAAACTT p.(Asp87GlufsTer2) NC_000004.12:145639399:AT:ATAAACTT Analogous +NM_024529.5:c.13_30del NP_078805.3:p.Leu5_Gln10del NC_000001.11:193122211:GCTTAGCGTCCTGCGACAG:G p.(Leu5_Gln10del) NC_000001.11:193122211:GCTTAGCGTCCTGCGACAG:G p.(Leu5_Gln10del) NC_000001.11:193122212:CTTAGCGTCCTGCGACAG: Identity +NM_000527.5:c.1216C>A NP_000518.1:p.Arg406= NC_000019.10:11113306:C:A p.(Arg406=) NC_000019.10:11113306:C:A p.(Arg406=) NC_000019.10:11113306:C:A Identity +NM_000194.3:c.392del NP_000185.1:p.Val130_Leu131insTer NC_000023.11:134490193:TT:T p.(Leu131Ter) NC_000023.11:134490193:TT:T p.(Leu131Ter) NC_000023.11:134490194:T: Analogous +NM_001011658.4:c.53_54del NP_001011658.1:p.Val17_Phe18insTer NC_000023.11:13719909:AAAAA:AAA p.(Phe18Ter) NC_000023.11:13719909:AAAAA:AAA p.(Phe18Ter) NC_000023.11:13719909:AA: Analogous +NM_000509.6:c.1026CAATGA[1] NP_000500.2:p.343ND[1] NC_000004.12:154606796:TCATTGTCATTGTC:TCATTGTC p.(Asn345_Asp346del) NC_000004.12:154606807:G:TCATTG ERR:Parse ERR:Parse Analogous +NM_001002295.2:c.947_958del NP_001002295.1:p.Thr316_Ala319del NC_000010.11:8069492:GACGTCCTGTGCGA:GA p.(Thr316_Ala319del) NC_000010.11:8069492:GACGTCCTGTGCGA:GA p.(Thr316_Ala319del) NC_000010.11:8069494:CGTCCTGTGCGA: Identity +NM_001363466.2:c.624A>G NP_001350395.1:p.Ser208= NC_000007.14:22976211:T:C p.(Ser208=) NC_000007.14:22976211:T:C p.(Ser208=) NC_000007.14:22976211:T:C Identity +NM_005359.6:c.831_832del NP_005350.1:p.Thr277_Pro278insTer NC_000018.10:51058378:ACACAC:ACAC p.(Pro278Ter) NC_000018.10:51058378:ACACAC:ACAC p.(Pro278Ter) NC_000018.10:51058382:AC: Analogous +NM_002241.5:c.775del NP_002232.2:p.Val258_Val259insTer NC_000001.11:160041757:CC:C p.(Val259Ter) NC_000001.11:160041757:CC:C p.(Val259Ter) NC_000001.11:160041757:C: Analogous +NM_001297778.1:c.838T>C NP_001284707.1:p.Ter280Gln NC_000001.11:9982698:T:C p.(Ter280GlnextTer15) NC_000001.11:9982698:T:C p.(Ter280GlnextTer15) NC_000001.11:9982698:T:C Analogous +NM_198578.4:c.4269G>A NP_940980.4:p.Lys1423= NC_000012.12:40309184:G:A p.(Lys1423=) NC_000012.12:40309184:G:A p.(Lys1423=) NC_000012.12:40309184:G:A Identity +NM_198578.4:c.457T>C NP_940980.4:p.Leu153= NC_000012.12:40237988:T:C p.(Leu153=) NC_000012.12:40237988:T:C p.(Leu153=) NC_000012.12:40237988:T:C Identity +NM_198578.4:c.7155A>G NP_940980.4:p.Gly2385= NC_000012.12:40363527:A:G p.(Gly2385=) NC_000012.12:40363527:A:G p.(Gly2385=) NC_000012.12:40363527:A:G Identity +NM_001414513.1:c.1041T>C NP_001401442.1:p.Gly347= NC_000012.12:109595182:T:C p.(Gly347=) NC_000012.12:109595182:T:C p.(Gly347=) NC_000012.12:109595182:T:C Identity +NM_000132.4:c.3864A>C NP_000123.1:p.Ser1288= NC_000023.11:154929925:T:G p.(Ser1288=) NC_000023.11:154929925:T:G p.(Ser1288=) NC_000023.11:154929925:T:G Identity +NM_001160227.2:c.3420G>A NP_001153699.1:p.Leu1140= NC_000015.10:44608476:C:T p.(Leu1140=) NC_000015.10:44608476:C:T p.(Leu1140=) NC_000015.10:44608476:C:T Identity +NM_000260.4:c.4544_4551delinsCA NP_000251.3:p.Glu1515_Met1517delinsAla NC_000011.10:77198596:AGATCATG:CA p.(Glu1515_Met1517delinsAla) NC_000011.10:77198595:GAGATCATG:GCA p.(Glu1515_Met1517delinsAla) NC_000011.10:77198596:AGATCATG:CA Identity +NM_000260.4:c.6240C>T NP_000251.3:p.Ser2080= NC_000011.10:77211822:C:T p.(Ser2080=) NC_000011.10:77211822:C:T p.(Ser2080=) NC_000011.10:77211822:C:T Identity +NM_000601.6:c.711T>C NP_000592.3:p.His237= NC_000007.14:81745034:A:G p.(His237=) NC_000007.14:81745034:A:G p.(His237=) NC_000007.14:81745034:A:G Identity +NM_001038603.3:c.1407C>T NP_001033692.2:p.Tyr469= NC_000005.10:69432996:C:T p.(Tyr469=) NC_000005.10:69432996:C:T p.(Tyr469=) NC_000005.10:69432996:C:T Identity +NM_001103.4:c.762C>T NP_001094.1:p.His254= NC_000001.11:236735698:C:T p.(His254=) NC_000001.11:236735698:C:T p.(His254=) NC_000001.11:236735698:C:T Identity +NM_001103.4:c.927C>T NP_001094.1:p.Pro309= NC_000001.11:236739351:C:T p.(Pro309=) NC_000001.11:236739351:C:T p.(Pro309=) NC_000001.11:236739351:C:T Identity +NM_001077186.2:c.1149T>C NP_001070654.1:p.Phe383= NC_000019.10:50244275:T:C p.(Phe383=) NC_000019.10:50244275:T:C p.(Phe383=) NC_000019.10:50244275:T:C Identity +NM_001170414.2:c.2577G>A NP_001163885.1:p.Ala859= NC_000009.12:69246768:G:A p.(Ala859=) NC_000009.12:69246768:G:A p.(Ala859=) NC_000009.12:69246768:G:A Identity +NM_004004.6:c.186C>T NP_003995.2:p.Asn62= NC_000013.11:20189395:G:A p.(Asn62=) NC_000013.11:20189395:G:A p.(Asn62=) NC_000013.11:20189395:G:A Identity +NM_004281.4:c.1002T>G NP_004272.2:p.Pro334= NC_000010.11:119676555:T:G p.(Pro334=) NC_000010.11:119676555:T:G p.(Pro334=) NC_000010.11:119676555:T:G Identity +NM_001354609.2:c.1084C>A NP_001341538.1:p.Arg362= NC_000007.14:140794363:G:T p.(Arg362=) NC_000007.14:140794363:G:T p.(Arg362=) NC_000007.14:140794363:G:T Identity +NM_001008844.3:c.741= NP_001008844.1:p.Ala247= NC_000006.12:7563749:G:G p.(Ala247=) NC_000006.12:7563749:G: p.(Ala247=) NC_000006.12:7563749:G:G Identity +NM_001346897.2:c.2226G>A NP_001333826.1:p.Gln742= NC_000007.14:55181369:G:A p.(Gln742=) NC_000007.14:55181369:G:A p.(Gln742=) NC_000007.14:55181369:G:A Identity +NM_001145853.1:c.2247G>A NP_001139325.1:p.Thr749= NC_000004.12:6302041:G:A p.(Thr749=) NC_000004.12:6302041:G:A p.(Thr749=) NC_000004.12:6302041:G:A Identity +NM_003373.4:c.1506G>A NP_003364.1:p.Arg502= NC_000010.11:74094423:G:A p.(Arg502=) NC_000010.11:74094423:G:A p.(Arg502=) NC_000010.11:74094423:G:A Identity +NM_001256317.3:c.309C>T NP_001243246.1:p.Asp103= NC_000021.9:42388941:G:A p.(Asp103=) NC_000021.9:42388941:G:A p.(Asp103=) NC_000021.9:42388941:G:A Identity +NM_080679.3:c.2199G>A NP_542410.2:p.Arg733= NC_000006.12:33174019:C:T p.(Arg733=) NC_000006.12:33174019:C:T p.(Arg733=) NC_000006.12:33174019:C:T Identity +NM_001256850.1:c.14841T>C NP_001243779.1:p.Ile4947= NC_000002.12:178733500:A:G p.(Ile4947=) NC_000002.12:178733500:A:G p.(Ile4947=) NC_000002.12:178733500:A:G Identity +NM_001256850.1:c.17580G>C NP_001243779.1:p.Val5860= NC_000002.12:178729721:C:G p.(Val5860=) NC_000002.12:178729721:C:G p.(Val5860=) NC_000002.12:178729721:C:G Identity +NM_001256850.1:c.23565C>T NP_001243779.1:p.Thr7855= NC_000002.12:178718589:G:A p.(Thr7855=) NC_000002.12:178718589:G:A p.(Thr7855=) NC_000002.12:178718589:G:A Identity +NM_133379.5:c.11133A>G NP_596870.2:p.Thr3711= NC_000002.12:178751266:T:C p.(Thr3711=) NC_000002.12:178751266:T:C p.(Thr3711=) NC_000002.12:178751266:T:C Identity +NM_133379.5:c.15276G>A NP_596870.2:p.Leu5092= NC_000002.12:178747123:C:T p.(Leu5092=) NC_000002.12:178747123:C:T p.(Leu5092=) NC_000002.12:178747123:C:T Identity +NM_001145459.2:c.33G>A NP_001138931.1:p.Glu11= NC_000004.12:56655967:C:T p.(Glu11=) NC_000004.12:56655967:C:T p.(Glu11=) NC_000004.12:56655967:C:T Identity +NM_001161683.2:c.2001G>A NP_001155155.1:p.Thr667= NC_000016.10:21730866:G:A p.(Thr667=) NC_000016.10:21730866:G:A p.(Thr667=) NC_000016.10:21730866:G:A Identity +NM_000503.6:c.1278C>T NP_000494.2:p.Gly426= NC_000008.11:71216773:G:A p.(Gly426=) NC_000008.11:71216773:G:A p.(Gly426=) NC_000008.11:71216773:G:A Identity +NM_001287489.2:c.2949C>T NP_001274418.1:p.Pro983= NC_000002.12:26475955:G:A p.(Pro983=) NC_000002.12:26475955:G:A p.(Pro983=) NC_000002.12:26475955:G:A Identity +NM_001039492.3:c.819C>T NP_001034581.1:p.Pro273= NC_000002.12:105361303:G:A p.(Pro273=) NC_000002.12:105361303:G:A p.(Pro273=) NC_000002.12:105361303:G:A Identity +NM_206933.4:c.5739G>A NP_996816.3:p.Glu1913= NC_000001.11:216073133:C:T p.(Glu1913=) NC_000001.11:216073133:C:T p.(Glu1913=) NC_000001.11:216073133:C:T Identity +NM_000548.5:c.5380_5382dup NP_000539.2:p.Lys1794dup NC_000016.10:2088564:GAAG:GAAGAAG p.(Lys1794dup) NC_000016.10:2088564:GAAG:GAAGAAG p.(Lys1794dup) ERR:SPDI Identity +NM_000059.4:c.4965del NP_000050.3:p.Cys1654_Tyr1655insTer NC_000013.11:32339319:C: p.(Tyr1655Ter) NC_000013.11:32339319:C: p.(Tyr1655Ter) NC_000013.11:32339319:C: Analogous +NM_001407571.1:c.3001del NP_001394500.1:p.Glu1000_Leu1001insTer NC_000017.11:43092316:G: p.(Leu1001Ter) NC_000017.11:43092316:G: p.(Leu1001Ter) NC_000017.11:43092316:G: Analogous +NM_001408501.1:c.231C>A NP_001395430.1:p.Ile77= NC_000017.11:43104190:G:T p.(Ile77=) NC_000017.11:43104190:G:T p.(Ile77=) NC_000017.11:43104190:G:T Identity +NM_001407571.1:c.3570A>G NP_001394500.1:p.Leu1190= NC_000017.11:43091747:T:C p.(Leu1190=) NC_000017.11:43091747:T:C p.(Leu1190=) NC_000017.11:43091747:T:C Identity +NM_001080512.3:c.444C>T NP_001073981.1:p.Ile148= NC_000010.11:58786978:C:T p.(Ile148=) NC_000010.11:58786978:C:T p.(Ile148=) NC_000010.11:58786978:C:T Identity +NM_001171930.2:c.2283C>T NP_001165401.1:p.Ile761= NC_000010.11:71694252:C:T p.(Ile761=) NC_000010.11:71694252:C:T p.(Ile761=) NC_000010.11:71694252:C:T Identity +NM_000020.3:c.1161G>A NP_000011.2:p.Thr387= NC_000012.12:51916147:G:A p.(Thr387=) NC_000012.12:51916147:G:A p.(Thr387=) NC_000012.12:51916147:G:A Identity +NM_000059.4:c.2424A>G NP_000050.3:p.Glu808= NC_000013.11:32336778:A:G p.(Glu808=) NC_000013.11:32336778:A:G p.(Glu808=) NC_000013.11:32336778:A:G Identity +NM_000050.4:c.876T>C NP_000041.2:p.His292= NC_000009.12:130489369:T:C p.(His292=) NC_000009.12:130489369:T:C p.(His292=) NC_000009.12:130489369:T:C Identity +LRG_673t1:c.1374C>T LRG_673p1:p. NC_000017.11:80109991:C:T ERR:Data provider error: ValueError: Transcript LRG_673t1 not found ERR:Data provider error: ValueError: Transcript LRG_673t1 not found ERR:AlignmentMapper(tx_ac=LRG_673t1, alt_ac=LRG_673t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_673t1, alt_ac=LRG_673t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_673t1 not found +NM_000153.4:c.1350C>T NP_000144.2:p.Ser450= NC_000014.9:87947866:G:A p.(Ser450=) NC_000014.9:87947866:G:A p.(Ser450=) NC_000014.9:87947866:G:A Identity +NM_000153.4:c.984G>A NP_000144.2:p.Gln328= NC_000014.9:87965553:C:T p.(Gln328=) NC_000014.9:87965553:C:T p.(Gln328=) NC_000014.9:87965553:C:T Identity +NM_000202.8:c.438C>T NP_000193.1:p.Thr146= NC_000023.11:149501017:G:A p.(Thr146=) NC_000023.11:149501017:G:A p.(Thr146=) NC_000023.11:149501017:G:A Identity +NM_000231.3:c.312T>G NP_000222.2:p.Leu104= NC_000013.11:23250643:T:G p.(Leu104=) NC_000013.11:23250643:T:G p.(Leu104=) NC_000013.11:23250643:T:G Identity +NM_000334.4:c.4869A>G NP_000325.4:p.Thr1623= NC_000017.11:63941412:T:C p.(Thr1623=) NC_000017.11:63941412:T:C p.(Thr1623=) NC_000017.11:63941412:T:C Identity +NM_000425.5:c.720G>A NP_000416.1:p.Pro240= NC_000023.11:153870473:C:T p.(Pro240=) NC_000023.11:153870473:C:T p.(Pro240=) NC_000023.11:153870473:C:T Identity +NM_000492.4:c.2769C>T NP_000483.3:p.Ala923= NC_000007.14:117603642:C:T p.(Ala923=) NC_000007.14:117603642:C:T p.(Ala923=) NC_000007.14:117603642:C:T Identity +NM_000540.3:c.1077T>C NP_000531.2:p.Ala359= NC_000019.10:38448767:T:C p.(Ala359=) NC_000019.10:38448767:T:C p.(Ala359=) NC_000019.10:38448767:T:C Identity +NM_000540.3:c.7527G>A NP_000531.2:p.Val2509= NC_000019.10:38500902:G:A p.(Val2509=) NC_000019.10:38500902:G:A p.(Val2509=) NC_000019.10:38500902:G:A Identity +NM_000540.3:c.9690G>A NP_000531.2:p.Leu3230= NC_000019.10:38517362:G:A p.(Leu3230=) NC_000019.10:38517362:G:A p.(Leu3230=) NC_000019.10:38517362:G:A Identity +NM_000543.5:c.636T>C NP_000534.3:p.Asp212= NC_000011.10:6391700:T:C p.(Asp212=) NC_000011.10:6391700:T:C p.(Asp212=) NC_000011.10:6391700:T:C Identity +NM_000816.3:c.588C>T NP_000807.2:p.Asn196= NC_000005.10:162101273:C:T p.(Asn196=) NC_000005.10:162101273:C:T p.(Asn196=) NC_000005.10:162101273:C:T Identity +NM_001029883.3:c.3291G>A NP_001025054.1:p.Gln1097= NC_000002.12:29070970:C:T p.(Gln1097=) NC_000002.12:29070970:C:T p.(Gln1097=) NC_000002.12:29070970:C:T Identity +NM_001163817.2:c.1272C>T NP_001157289.1:p.Gly424= NC_000011.10:71435530:G:A p.(Gly424=) NC_000011.10:71435530:G:A p.(Gly424=) NC_000011.10:71435530:G:A Identity +NM_001163817.2:c.231C>T NP_001157289.1:p.Thr77= NC_000011.10:71444082:G:A p.(Thr77=) NC_000011.10:71444082:G:A p.(Thr77=) NC_000011.10:71444082:G:A Identity +NM_001848.3:c.2061C>A NP_001839.2:p.Leu687= NC_000021.9:46002064:C:A p.(Leu687=) NC_000021.9:46002064:C:A p.(Leu687=) NC_000021.9:46002064:C:A Identity +NM_001190709.2:c.660T>C NP_001177638.1:p.Ile220= NC_000001.11:103031235:A:G p.(Ile220=) NC_000001.11:103031235:A:G p.(Ile220=) NC_000001.11:103031235:A:G Identity +NM_001289156.2:c.981A>G NP_001276085.1:p.Val327= NC_000015.10:74897588:A:G p.(Val327=) NC_000015.10:74897588:A:G p.(Val327=) NC_000015.10:74897588:A:G Identity +NM_003482.4:c.10740G>A NP_003473.3:p.Gln3580= NC_000012.12:49034066:C:T p.(Gln3580=) NC_000012.12:49034066:C:T p.(Gln3580=) NC_000012.12:49034066:C:T Identity +NM_001130455.2:c.1893G>A NP_001123927.1:p.Pro631= NC_000002.12:71553147:G:A p.(Pro631=) NC_000002.12:71553147:G:A p.(Pro631=) NC_000002.12:71553147:G:A Identity +NM_004369.4:c.6972C>T NP_004360.2:p.Asn2324= NC_000002.12:237347863:G:A p.(Asn2324=) NC_000002.12:237347863:G:A p.(Asn2324=) NC_000002.12:237347863:G:A Identity +NM_004369.4:c.7512C>T NP_004360.2:p.Asn2504= NC_000002.12:237344505:G:A p.(Asn2504=) NC_000002.12:237344505:G:A p.(Asn2504=) NC_000002.12:237344505:G:A Identity +NM_004369.4:c.7842C>T NP_004360.2:p.Ser2614= NC_000002.12:237341073:G:A p.(Ser2614=) NC_000002.12:237341073:G:A p.(Ser2614=) NC_000002.12:237341073:G:A Identity +NM_001164507.2:c.21585A>G NP_001157979.2:p.Thr7195= NC_000002.12:151531038:T:C p.(Thr7195=) NC_000002.12:151531038:T:C p.(Thr7195=) NC_000002.12:151531038:T:C Identity +NM_005045.4:c.6702T>C NP_005036.2:p.Cys2234= NC_000007.14:103540424:A:G p.(Cys2234=) NC_000007.14:103540424:A:G p.(Cys2234=) NC_000007.14:103540424:A:G Identity +NM_001195622.2:c.2796T>C NP_001182551.1:p.Asp932= NC_000009.12:32541533:A:G p.(Asp932=) NC_000009.12:32541533:A:G p.(Asp932=) NC_000009.12:32541533:A:G Identity +NM_001315529.2:c.5277C>T NP_001302458.1:p.Ile1759= NC_000021.9:46411703:C:T p.(Ile1759=) NC_000021.9:46411703:C:T p.(Ile1759=) NC_000021.9:46411703:C:T Identity +NM_006516.4:c.1065A>G NP_006507.2:p.Leu355= NC_000001.11:42928940:T:C p.(Leu355=) NC_000001.11:42928940:T:C p.(Leu355=) NC_000001.11:42928940:T:C Identity +NM_006516.4:c.966C>T NP_006507.2:p.Val322= NC_000001.11:42929215:G:A p.(Val322=) NC_000001.11:42929215:G:A p.(Val322=) NC_000001.11:42929215:G:A Identity +NM_001077365.2:c.2115G>A NP_001070833.1:p.Ser705= NC_000009.12:131523042:G:A p.(Ser705=) NC_000009.12:131523042:G:A p.(Ser705=) NC_000009.12:131523042:G:A Identity +NM_001291593.2:c.1263C>T NP_001278522.1:p.Arg421= NC_000001.11:5877107:G:A p.(Arg421=) NC_000001.11:5877107:G:A p.(Arg421=) NC_000001.11:5877107:G:A Identity +NM_017791.3:c.376C>T NP_060261.2:p.Leu126= NC_000014.9:75579347:C:T p.(Leu126=) NC_000014.9:75579347:C:T p.(Leu126=) NC_000014.9:75579347:C:T Identity +NM_001282145.2:c.558C>T NP_001269074.1:p.Asp186= NC_000023.11:6029346:G:A p.(Asp186=) NC_000023.11:6029346:G:A p.(Asp186=) NC_000023.11:6029346:G:A Identity +NM_001037633.2:c.153A>G NP_001032722.1:p.Thr51= NC_000005.10:139121125:T:C p.(Thr51=) NC_000005.10:139121125:T:C p.(Thr51=) NC_000005.10:139121125:T:C Identity +NM_001142763.2:c.3951A>G NP_001136235.1:p.Ala1317= NC_000010.11:53840366:T:C p.(Ala1317=) NC_000010.11:53840366:T:C p.(Ala1317=) NC_000010.11:53840366:T:C Identity +NM_138694.4:c.234C>T NP_619639.3:p.Asp78= NC_000006.12:52082438:G:A p.(Asp78=) NC_000006.12:52082438:G:A p.(Asp78=) NC_000006.12:52082438:G:A Identity +NM_138694.4:c.3537T>C NP_619639.3:p.Asn1179= NC_000006.12:52028178:A:G p.(Asn1179=) NC_000006.12:52028178:A:G p.(Asn1179=) NC_000006.12:52028178:A:G Identity +NM_198488.5:c.2766C>T NP_940890.4:p.Arg922= NC_000008.11:143726694:G:A p.(Arg922=) NC_000008.11:143726694:G:A p.(Arg922=) NC_000008.11:143726694:G:A Identity +NM_000243.3:c.1818C>T NP_000234.1:p.Thr606= NC_000016.10:3243668:G:A p.(Thr606=) NC_000016.10:3243668:G:A p.(Thr606=) NC_000016.10:3243668:G:A Identity +NM_001065.4:c.168G>A NP_001056.1:p.Ser56= NC_000012.12:6334115:C:T p.(Ser56=) NC_000012.12:6334115:C:T p.(Ser56=) NC_000012.12:6334115:C:T Identity +NM_001127255.2:c.915A>C NP_001120727.1:p.Ala305= NC_000019.10:54939903:T:G p.(Ala305=) NC_000019.10:54939903:T:G p.(Ala305=) NC_000019.10:54939903:T:G Identity +NM_000744.7:c.1266C>T NP_000735.1:p.Cys422= NC_000020.11:63350144:G:A p.(Cys422=) NC_000020.11:63350144:G:A p.(Cys422=) NC_000020.11:63350144:G:A Identity +NM_000744.7:c.693G>A NP_000735.1:p.Pro231= NC_000020.11:63350717:C:T p.(Pro231=) NC_000020.11:63350717:C:T p.(Pro231=) NC_000020.11:63350717:C:T Identity +NM_001242464.2:c.285G>A NP_001229393.1:p.Glu95= NC_000017.11:39634033:G:A p.(Glu95=) NC_000017.11:39634033:G:A p.(Glu95=) NC_000017.11:39634033:G:A Identity +NM_032595.5:c.1332C>T NP_115984.3:p.Ala444= NC_000017.11:50149181:G:A p.(Ala444=) NC_000017.11:50149181:G:A p.(Ala444=) NC_000017.11:50149181:G:A Identity +NM_001316329.2:c.1608C>T NP_001303258.1:p.Val536= NC_000019.10:53903104:C:T p.(Val536=) NC_000019.10:53903104:C:T p.(Val536=) NC_000019.10:53903104:C:T Identity +NM_001142459.2:c.516C>T NP_001135931.2:p.Ala172= NC_000007.14:151186459:G:A p.(Ala172=) NC_000007.14:151186459:G:A p.(Ala172=) NC_000007.14:151186459:G:A Identity +NM_000059.4:c.1114= NP_000050.3:p.Asn372= NC_000013.11:32332591:A:A p.(Asn372=) NC_000013.11:32332591:A: p.(Asn372=) NC_000013.11:32332591:A:A Identity +NM_000059.4:c.1125C>T NP_000050.3:p.Pro375= NC_000013.11:32332602:C:T p.(Pro375=) NC_000013.11:32332602:C:T p.(Pro375=) NC_000013.11:32332602:C:T Identity +NM_000059.4:c.1796= NP_000050.3:p.Ser599= NC_000013.11:32333273:C:C p.(Ser599=) NC_000013.11:32333273:C: p.(Ser599=) NC_000013.11:32333273:C:C Identity +NM_024675.4:c.2301C>A NP_078951.2:p.Val767= NC_000016.10:23629852:G:T p.(Val767=) NC_000016.10:23629852:G:T p.(Val767=) NC_000016.10:23629852:G:T Identity +NM_001173466.2:c.756C>T NP_001166937.1:p.Phe252= NC_000012.12:53309236:G:A p.(Phe252=) NC_000012.12:53309236:G:A p.(Phe252=) NC_000012.12:53309236:G:A Identity +NM_001101.5:c.1023C>T NP_001092.1:p.Ile341= NC_000007.14:5527852:G:A p.(Ile341=) NC_000007.14:5527852:G:A p.(Ile341=) NC_000007.14:5527852:G:A Identity +NM_001199954.3:c.1026T>C NP_001186883.1:p.Gly342= NC_000017.11:81510791:A:G p.(Gly342=) NC_000017.11:81510791:A:G p.(Gly342=) NC_000017.11:81510791:A:G Identity +NM_001305275.2:c.2025C>G NP_001292204.1:p.Gly675= NC_000001.11:1044133:C:G p.(Gly675=) NC_000001.11:1044133:C:G p.(Gly675=) NC_000001.11:1044133:C:G Identity +NM_000383.4:c.588C>T NP_000374.1:p.Ser196= NC_000021.9:44288393:C:T p.(Ser196=) NC_000021.9:44288393:C:T p.(Ser196=) NC_000021.9:44288393:C:T Identity +NM_000702.4:c.129G>A NP_000693.1:p.Lys43= NC_000001.11:160121202:G:A p.(Lys43=) NC_000001.11:160121202:G:A p.(Lys43=) NC_000001.11:160121202:G:A Identity +NM_000702.4:c.1980C>T NP_000693.1:p.Cys660= NC_000001.11:160135159:C:T p.(Cys660=) NC_000001.11:160135159:C:T p.(Cys660=) NC_000001.11:160135159:C:T Identity +NM_001715.3:c.102C>T NP_001706.2:p.Asp34= NC_000008.11:11543325:C:T p.(Asp34=) NC_000008.11:11543325:C:T p.(Asp34=) NC_000008.11:11543325:C:T Identity +NM_001321837.2:c.334C>T NP_001308766.1:p.Leu112= NC_000008.11:60266007:G:A p.(Leu112=) NC_000008.11:60266007:G:A p.(Leu112=) NC_000008.11:60266007:G:A Identity +NM_000068.4:c.2751C>T NP_000059.3:p.Pro917= NC_000019.10:13298893:G:A p.(Pro917=) NC_000019.10:13298893:G:A p.(Pro917=) NC_000019.10:13298893:G:A Identity +NM_000068.4:c.3069G>A NP_000059.3:p.Arg1023= NC_000019.10:13298575:C:T p.(Arg1023=) NC_000019.10:13298575:C:T p.(Arg1023=) NC_000019.10:13298575:C:T Identity +NM_000068.4:c.3873T>C NP_000059.3:p.Phe1291= NC_000019.10:13277089:A:G p.(Phe1291=) NC_000019.10:13277089:A:G p.(Phe1291=) NC_000019.10:13277089:A:G Identity +NM_001366624.2:c.381T>G NP_001353553.1:p.Thr127= NC_000013.11:76995942:T:G p.(Thr127=) NC_000013.11:76995942:T:G p.(Thr127=) NC_000013.11:76995942:T:G Identity +NM_001848.3:c.3054C>T NP_001839.2:p.His1018= NC_000021.9:46003979:C:T p.(His1018=) NC_000021.9:46003979:C:T p.(His1018=) NC_000021.9:46003979:C:T Identity +NM_001142605.2:c.657T>C NP_001136077.1:p.Thr219= NC_000017.11:44876040:A:G p.(Thr219=) NC_000017.11:44876040:A:G p.(Thr219=) NC_000017.11:44876040:A:G Identity +NM_001127487.2:c.4431G>A NP_001120959.1:p.Leu1477= NC_000007.14:128847838:G:A p.(Leu1477=) NC_000007.14:128847838:G:A p.(Leu1477=) NC_000007.14:128847838:G:A Identity +NM_031407.7:c.10101G>A NP_113584.3:p.Arg3367= NC_000023.11:53548207:C:T p.(Arg3367=) NC_000023.11:53548207:C:T p.(Arg3367=) NC_000023.11:53548207:C:T Identity +NM_001111125.3:c.3990G>A NP_001104595.1:p.Gly1330= NC_000023.11:53234695:C:T p.(Gly1330=) NC_000023.11:53234695:C:T p.(Gly1330=) NC_000023.11:53234695:C:T Identity +NM_001099952.4:c.6552A>G NP_001093422.2:p.Lys2184= NC_000003.12:4788026:A:G p.(Lys2184=) NC_000003.12:4788026:A:G p.(Lys2184=) NC_000003.12:4788026:A:G Identity +NM_001101362.3:c.378G>T NP_001094832.1:p.Ala126= NC_000015.10:65077192:G:T p.(Ala126=) NC_000015.10:65077192:G:T p.(Ala126=) NC_000015.10:65077192:G:T Identity +NM_001145642.5:c.2721A>G NP_001139114.1:p.Ser907= NC_000003.12:197675080:T:C p.(Ser907=) NC_000003.12:197675080:T:C p.(Ser907=) NC_000003.12:197675080:T:C Identity +NM_001164507.2:c.20766C>T NP_001157979.2:p.Asp6922= NC_000002.12:151540717:G:A p.(Asp6922=) NC_000002.12:151540717:G:A p.(Asp6922=) NC_000002.12:151540717:G:A Identity +NM_001135659.3:c.4188G>A NP_001129131.1:p.Thr1396= NC_000002.12:50053330:C:T p.(Thr1396=) NC_000002.12:50053330:C:T p.(Thr1396=) NC_000002.12:50053330:C:T Identity +NM_001190818.2:c.1239A>C NP_001177747.1:p.Ala413= NC_000001.11:52388585:T:G p.(Ala413=) NC_000001.11:52388585:T:G p.(Ala413=) NC_000001.11:52388585:T:G Identity +NM_001142633.3:c.837C>T NP_001136105.1:p.His279= NC_000017.11:8889196:G:A p.(His279=) NC_000017.11:8889196:G:A p.(His279=) NC_000017.11:8889196:G:A Identity +NM_001172435.2:c.1992G>A NP_001165906.1:p.Ser664= NC_000002.12:135150436:G:A p.(Ser664=) NC_000002.12:135150436:G:A p.(Ser664=) NC_000002.12:135150436:G:A Identity +NM_005055.5:c.1143T>C NP_005046.2:p.Pro381= NC_000011.10:47438754:A:G p.(Pro381=) NC_000011.10:47438754:A:G p.(Pro381=) NC_000011.10:47438754:A:G Identity +NM_001318520.2:c.2256G>C NP_001305449.1:p.Leu752= NC_000018.10:70057780:C:G p.(Leu752=) NC_000018.10:70057780:C:G p.(Leu752=) NC_000018.10:70057780:C:G Identity +NM_000334.4:c.4905C>T NP_000325.4:p.Ile1635= NC_000017.11:63941376:G:A p.(Ile1635=) NC_000017.11:63941376:G:A p.(Ile1635=) NC_000017.11:63941376:G:A Identity +NM_024577.4:c.3594A>C NP_078853.2:p.Pro1198= NC_000005.10:149006961:T:G p.(Pro1198=) NC_000005.10:149006961:T:G p.(Pro1198=) NC_000005.10:149006961:T:G Identity +NM_015180.6:c.13266G>A NP_055995.4:p.Gln4422= NC_000014.9:64122118:G:A p.(Gln4422=) NC_000014.9:64122118:G:A p.(Gln4422=) NC_000014.9:64122118:G:A Identity +NM_001321170.1:c.663C>T NP_001308099.1:p.Leu221= NC_000019.10:14565076:C:T p.(Leu221=) NC_000019.10:14565076:C:T p.(Leu221=) NC_000019.10:14565076:C:T Identity +NM_001160372.4:c.1692C>T NP_001153844.1:p.Asn564= NC_000008.11:140300544:G:A p.(Asn564=) NC_000008.11:140300544:G:A p.(Asn564=) NC_000008.11:140300544:G:A Identity +NM_001145853.1:c.9C>T NP_001139325.1:p.Ser3= NC_000004.12:6277463:C:T p.(Ser3=) NC_000004.12:6277463:C:T p.(Ser3=) NC_000004.12:6277463:C:T Identity +NM_001146189.1:c.1077A>G NP_001139661.1:p.Val359= NC_000018.10:74632095:A:G p.(Val359=) NC_000018.10:74632095:A:G p.(Val359=) NC_000018.10:74632095:A:G Identity +NM_001384475.1:c.6444G>A NP_001371404.1:p.Thr2148= NC_000018.10:75064164:G:A p.(Thr2148=) NC_000018.10:75064164:G:A p.(Thr2148=) NC_000018.10:75064164:G:A Identity +NM_000249.4:c.1074G>A NP_000240.1:p.Glu358= NC_000003.12:37025671:G:A p.(Glu358=) NC_000003.12:37025671:G:A p.(Glu358=) NC_000003.12:37025671:G:A Identity +NM_001320923.2:c.3463T>C NP_001307852.1:p.Ter1155Gln NC_000001.11:64834563:A:G p.(Ter1155GlnextTer3) NC_000001.11:64834563:A:G p.(Ter1155GlnextTer3) NC_000001.11:64834563:A:G Analogous +NM_000264.5:c.801G>A NP_000255.2:p.Glu267= NC_000009.12:95480533:C:T p.(Glu267=) NC_000009.12:95480533:C:T p.(Glu267=) NC_000009.12:95480533:C:T Identity +NM_001024688.3:c.1950A>G NP_001019859.1:p.Gln650= NC_000008.11:89937063:T:C p.(Gln650=) NC_000008.11:89937063:T:C p.(Gln650=) NC_000008.11:89937063:T:C Identity +NM_001024688.3:c.1974T>C NP_001019859.1:p.Ala658= NC_000008.11:89937039:A:G p.(Ala658=) NC_000008.11:89937039:A:G p.(Ala658=) NC_000008.11:89937039:A:G Identity +NM_001024688.3:c.573A>T NP_001019859.1:p.Thr191= NC_000008.11:89970440:T:A p.(Thr191=) NC_000008.11:89970440:T:A p.(Thr191=) NC_000008.11:89970440:T:A Identity +NM_001379277.1:c.5071A>C NP_001366206.1:p.Arg1691= NC_000007.14:92097612:A:C p.(Arg1691=) NC_000007.14:92097612:A:C p.(Arg1691=) NC_000007.14:92097612:A:C Identity +NM_000051.4:c.1380G>C NP_000042.3:p.Thr460= NC_000011.10:108250844:G:C p.(Thr460=) NC_000011.10:108250844:G:C p.(Thr460=) NC_000011.10:108250844:G:C Identity +NM_000724.4:c.1353C>T NP_000715.2:p.Arg451= NC_000010.11:18539258:C:T p.(Arg451=) NC_000010.11:18539258:C:T p.(Arg451=) NC_000010.11:18539258:C:T Identity +NM_001317184.2:c.1170T>C NP_001304113.1:p.Ile390= NC_000016.10:68815546:T:C p.(Ile390=) NC_000016.10:68815546:T:C p.(Ile390=) NC_000016.10:68815546:T:C Identity +NM_014141.6:c.3585G>A NP_054860.1:p.Arg1195= NC_000007.14:148383757:G:A p.(Arg1195=) NC_000007.14:148383757:G:A p.(Arg1195=) NC_000007.14:148383757:G:A Identity +NM_014141.6:c.3675G>A NP_054860.1:p.Ser1225= NC_000007.14:148383847:G:A p.(Ser1225=) NC_000007.14:148383847:G:A p.(Ser1225=) NC_000007.14:148383847:G:A Identity +NM_014141.6:c.3927C>T NP_054860.1:p.Ala1309= NC_000007.14:148415546:C:T p.(Ala1309=) NC_000007.14:148415546:C:T p.(Ala1309=) NC_000007.14:148415546:C:T Identity +NM_000393.5:c.4449C>T NP_000384.2:p.Gly1483= NC_000002.12:189034120:G:A p.(Gly1483=) NC_000002.12:189034120:G:A p.(Gly1483=) NC_000002.12:189034120:G:A Identity +NM_001130823.3:c.1632C>A NP_001124295.1:p.Ile544= NC_000019.10:10154916:G:T p.(Ile544=) NC_000019.10:10154916:G:T p.(Ile544=) NC_000019.10:10154916:G:T Identity +NM_001083614.2:c.984G>A NP_001077083.1:p.Pro328= NC_000016.10:23532739:C:T p.(Pro328=) NC_000016.10:23532739:C:T p.(Pro328=) NC_000016.10:23532739:C:T Identity +NM_000143.4:c.927G>A NP_000134.2:p.Pro309= NC_000001.11:241504222:C:T p.(Pro309=) NC_000001.11:241504222:C:T p.(Pro309=) NC_000001.11:241504222:C:T Identity +NM_001316772.1:c.900T>C NP_001303701.1:p.Phe300= NC_000007.14:30615925:T:C p.(Phe300=) NC_000007.14:30615925:T:C p.(Phe300=) NC_000007.14:30615925:T:C Identity +NM_001321015.2:c.282T>C NP_001307944.1:p.Tyr94= NC_000015.10:45368075:A:G p.(Tyr94=) NC_000015.10:45368075:A:G p.(Tyr94=) NC_000015.10:45368075:A:G Identity +NM_001482.3:c.48G>T NP_001473.1:p.Ala16= NC_000015.10:45378405:C:A p.(Ala16=) NC_000015.10:45378405:C:A p.(Ala16=) NC_000015.10:45378405:C:A Identity +NM_001177431.1:c.687T>C NP_001170902.1:p.Asp229= NC_000012.12:109800681:A:G p.(Asp229=) NC_000012.12:109800681:A:G p.(Asp229=) NC_000012.12:109800681:A:G Identity +NM_206933.4:c.12612= NP_996816.3:p.Thr4204= NC_000001.11:215675298:T:T p.(Thr4204=) NC_000001.11:215675298:T: p.(Thr4204=) NC_000001.11:215675298:T:T Identity +NM_001184985.2:c.4824C>T NP_001171914.1:p.Thr1608= NC_000012.12:884847:C:T p.(Thr1608=) NC_000012.12:884847:C:T p.(Thr1608=) NC_000012.12:884847:C:T Identity +NM_000890.5:c.171T>C NP_000881.3:p.Ser57= NC_000011.10:128911443:T:C p.(Ser57=) NC_000011.10:128911443:T:C p.(Ser57=) NC_000011.10:128911443:T:C Identity +NM_001127660.2:c.150C>A NP_001121132.1:p.Ile50= NC_000001.11:11989317:C:A p.(Ile50=) NC_000001.11:11989317:C:A p.(Ile50=) NC_000001.11:11989317:C:A Identity +NM_001040113.2:c.4116C>T NP_001035202.1:p.His1372= NC_000016.10:15724667:G:A p.(His1372=) NC_000016.10:15724667:G:A p.(His1372=) NC_000016.10:15724667:G:A Identity +NM_174889.5:c.462T>C NP_777549.1:p.Phe154= NC_000005.10:61152906:T:C p.(Phe154=) NC_000005.10:61152906:T:C p.(Phe154=) NC_000005.10:61152906:T:C Identity +NM_001079821.3:c.207C>T NP_001073289.2:p.Ala69= NC_000001.11:247419006:C:T p.(Ala69=) NC_000001.11:247419006:C:T p.(Ala69=) NC_000001.11:247419006:C:T Identity +NM_001079821.3:c.1044G>A NP_001073289.2:p.Thr348= NC_000001.11:247424492:G:A p.(Thr348=) NC_000001.11:247424492:G:A p.(Thr348=) NC_000001.11:247424492:G:A Identity +NM_001126131.2:c.3700C>A NP_001119603.1:p.Arg1234= NC_000015.10:89316770:G:T p.(Arg1234=) NC_000015.10:89316770:G:T p.(Arg1234=) NC_000015.10:89316770:G:T Identity +NM_001256442.2:c.751= NP_001243371.1:p.Leu251= NC_000016.10:29813804:T:T p.(Leu251=) NC_000016.10:29813804:T: p.(Leu251=) NC_000016.10:29813804:T:T Identity +NM_032861.4:c.249C>T NP_116250.3:p.Asp83= NC_000006.12:158150468:G:A p.(Asp83=) NC_000006.12:158150468:G:A p.(Asp83=) NC_000006.12:158150468:G:A Identity +NM_003119.4:c.2295C>T NP_003110.1:p.Asp765= NC_000016.10:89556999:C:T p.(Asp765=) NC_000016.10:89556999:C:T p.(Asp765=) NC_000016.10:89556999:C:T Identity +NM_001127698.2:c.1851T>C NP_001121170.1:p.Ala617= NC_000005.10:148112897:T:C p.(Ala617=) NC_000005.10:148112897:T:C p.(Ala617=) NC_000005.10:148112897:T:C Identity +NM_003172.4:c.280T>C NP_003163.1:p.Leu94= NC_000009.12:133354701:A:G p.(Leu94=) NC_000009.12:133354701:A:G p.(Leu94=) NC_000009.12:133354701:A:G Identity +NM_001199107.2:c.657G>A NP_001186036.1:p.Glu219= NC_000016.10:2496804:G:A p.(Glu219=) NC_000016.10:2496804:G:A p.(Glu219=) NC_000016.10:2496804:G:A Identity +NM_005857.5:c.1035A>G NP_005848.2:p.Thr345= NC_000001.11:40286004:A:G p.(Thr345=) NC_000001.11:40286004:A:G p.(Thr345=) NC_000001.11:40286004:A:G Identity +NM_000059.4:c.5583del NP_000050.3:p.Lys1861_Val1862insTer NC_000013.11:32339932:AAAAAA:AAAAA p.(Val1862Ter) NC_000013.11:32339932:AAAAAA:AAAAA p.(Val1862Ter) NC_000013.11:32339937:A: Analogous +NM_000462.5:c.2556_2576dup NP_000453.2:p.Leu858_Lys859insAsnSerSerLysGluLysLeu NC_000015.10:25339188:TTAAGTTTTTCTTTGCTTGAGT:TTAAGTTTTTCTTTGCTTGAGTTAAGTTTTTCTTTGCTTGAGT p.(Leu858_Lys859insAsnSerSerLysGluLysLeu) NC_000015.10:25339188:TTAAGTTTTTCTTTGCTTGAGT:TTAAGTTTTTCTTTGCTTGAGTTAAGTTTTTCTTTGCTTGAGT p.(Leu858_Lys859insAsnSerSerLysGluLysLeu) ERR:SPDI Identity +LRG_293t1:c.8929T>A LRG_293p1:p.Tyr2977Asn NC_000013.11:32379490:T:A ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_293t1 not found +NM_000047.3:c.867G>A NP_000038.2:p.Gly289= NC_000023.11:2946121:C:T p.(Gly289=) NC_000023.11:2946121:C:T p.(Gly289=) NC_000023.11:2946121:C:T Identity +NM_018136.5:c.7353G>A NP_060606.3:p.Leu2451= NC_000001.11:197101897:C:T p.(Leu2451=) NC_000001.11:197101897:C:T p.(Leu2451=) NC_000001.11:197101897:C:T Identity +NM_001184.4:c.1950G>A NP_001175.2:p.Glu650= NC_000003.12:142556510:C:T p.(Glu650=) NC_000003.12:142556510:C:T p.(Glu650=) NC_000003.12:142556510:C:T Identity +NM_001320633.2:c.1092C>T NP_001307562.1:p.Ser364= NC_000002.12:127051153:G:A p.(Ser364=) NC_000002.12:127051153:G:A p.(Ser364=) NC_000002.12:127051153:G:A Identity +NM_001384732.1:c.8769A>G NP_001371661.1:p.Thr2923= NC_000005.10:37138742:T:C p.(Thr2923=) NC_000005.10:37138742:T:C p.(Thr2923=) NC_000005.10:37138742:T:C Identity +NM_000076.2:c.555T>C NP_000067.1:p.Ala185= NC_000011.10:2884934:A:G p.(Ala185=) NC_000011.10:2884934:A:G p.(Ala185=) NC_000011.10:2884934:A:G Identity +NM_018451.5:c.810A>G NP_060921.3:p.Gln270= NC_000013.11:24909844:T:C p.(Gln270=) NC_000013.11:24909844:T:C p.(Gln270=) NC_000013.11:24909844:T:C Identity +NM_001289910.1:c.894C>T NP_001276839.1:p.Thr298= NC_000015.10:90085304:G:A p.(Thr298=) NC_000015.10:90085304:G:A p.(Thr298=) NC_000015.10:90085304:G:A Identity +NM_001110792.2:c.852G>A NP_001104262.1:p.Pro284= NC_000023.11:154031011:C:T p.(Pro284=) NC_000023.11:154031011:C:T p.(Pro284=) NC_000023.11:154031011:C:T Identity +NM_001315529.2:c.2985T>C NP_001302458.1:p.Ser995= NC_000021.9:46385857:T:C p.(Ser995=) NC_000021.9:46385857:T:C p.(Ser995=) NC_000021.9:46385857:T:C Identity +LRG_1150t1:c.1503C>T LRG_1150p1:p.Pro501= NC_000018.10:44950842:C:T ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found +NM_001145392.2:c.1272T>C NP_001138864.1:p.Ile424= NC_000003.12:12531592:T:C p.(Ile424=) NC_000003.12:12531592:T:C p.(Ile424=) NC_000003.12:12531592:T:C Identity +NM_001083961.2:c.3573C>T NP_001077430.1:p.Asp1191= NC_000019.10:36103400:C:T p.(Asp1191=) NC_000019.10:36103400:C:T p.(Asp1191=) NC_000019.10:36103400:C:T Identity +NM_080679.3:c.966C>T NP_542410.2:p.Gly322= NC_000006.12:33180329:G:A p.(Gly322=) NC_000006.12:33180329:G:A p.(Gly322=) NC_000006.12:33180329:G:A Identity +NM_016938.5:c.276C>T NP_058634.4:p.His92= NC_000011.10:65871247:G:A p.(His92=) NC_000011.10:65871247:G:A p.(His92=) NC_000011.10:65871247:G:A Identity +NM_032119.4:c.12207C>T NP_115495.3:p.Thr4069= NC_000005.10:90763390:C:T p.(Thr4069=) NC_000005.10:90763390:C:T p.(Thr4069=) NC_000005.10:90763390:C:T Identity +NM_000218.3:c.435C>T NP_000209.2:p.Ile145= NC_000011.10:2527975:C:T p.(Ile145=) NC_000011.10:2527975:C:T p.(Ile145=) NC_000011.10:2527975:C:T Identity +NM_002473.6:c.4479G>A NP_002464.1:p.Ala1493= NC_000022.11:36289162:C:T p.(Ala1493=) NC_000022.11:36289162:C:T p.(Ala1493=) NC_000022.11:36289162:C:T Identity +NM_001128228.3:c.1929G>A NP_001121700.2:p.Val643= NC_000009.12:137192487:C:T p.(Val643=) NC_000009.12:137192487:C:T p.(Val643=) NC_000009.12:137192487:C:T Identity +NM_001146702.2:c.1563G>A NP_001140174.1:p.Gln521= NC_000023.11:53201955:C:T p.(Gln521=) NC_000023.11:53201955:C:T p.(Gln521=) NC_000023.11:53201955:C:T Identity +NM_001130455.2:c.2283C>T NP_001123927.1:p.Leu761= NC_000002.12:71561868:C:T p.(Leu761=) NC_000002.12:71561868:C:T p.(Leu761=) NC_000002.12:71561868:C:T Identity +NM_001281737.2:c.240C>T NP_001268666.1:p.Leu80= NC_000004.12:158682399:C:T p.(Leu80=) NC_000004.12:158682399:C:T p.(Leu80=) NC_000004.12:158682399:C:T Identity +NM_001172766.3:c.738C>T NP_001166237.1:p.Gly246= NC_000007.14:114631670:C:T p.(Gly246=) NC_000007.14:114631670:C:T p.(Gly246=) NC_000007.14:114631670:C:T Identity +NM_003482.4:c.13797G>A NP_003473.3:p.Ala4599= NC_000012.12:49030642:C:T p.(Ala4599=) NC_000012.12:49030642:C:T p.(Ala4599=) NC_000012.12:49030642:C:T Identity +NM_153240.5:c.450G>A NP_694972.3:p.Ala150= NC_000003.12:132719773:C:T p.(Ala150=) NC_000003.12:132719773:C:T p.(Ala150=) NC_000003.12:132719773:C:T Identity +NM_000291.4:c.639C>T NP_000282.1:p.Gly213= NC_000023.11:78118167:C:T p.(Gly213=) NC_000023.11:78118167:C:T p.(Gly213=) NC_000023.11:78118167:C:T Identity +NM_001135771.3:c.444C>T NP_001129243.1:p.Ile148= NC_000020.11:37203944:C:T p.(Ile148=) NC_000020.11:37203944:C:T p.(Ile148=) NC_000020.11:37203944:C:T Identity +LRG_402t1:c.8416C>A LRG_402p1:p.Arg2806Ser NC_000001.11:237660926:C:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_014014.5:c.5520C>G NP_054733.2:p.Thr1840= NC_000002.12:96278326:G:C p.(Thr1840=) NC_000002.12:96278326:G:C p.(Thr1840=) NC_000002.12:96278326:G:C Identity +NM_001195622.2:c.1365A>G NP_001182551.1:p.Gln455= NC_000009.12:32542964:T:C p.(Gln455=) NC_000009.12:32542964:T:C p.(Gln455=) NC_000009.12:32542964:T:C Identity +NM_001172411.2:c.429T>C NP_001165882.1:p.Cys143= NC_000001.11:115663890:T:C p.(Cys143=) NC_000001.11:115663890:T:C p.(Cys143=) NC_000001.11:115663890:T:C Identity +NM_001171162.1:c.195C>G NP_001164633.1:p.Gly65= NC_000023.11:71253060:G:C p.(Gly65=) NC_000023.11:71253060:G:C p.(Gly65=) NC_000023.11:71253060:G:C Identity +NM_001008844.3:c.2631= NP_001008844.1:p.Arg877= NC_000006.12:7576293:G:G p.(Arg877=) NC_000006.12:7576293:G: p.(Arg877=) NC_000006.12:7576293:G:G Identity +NM_003373.4:c.1348A>C NP_003364.1:p.Arg450= NC_000010.11:74090193:A:C p.(Arg450=) NC_000010.11:74090193:A:C p.(Arg450=) NC_000010.11:74090193:A:C Identity +NM_001195794.1:c.699C>T NP_001182723.1:p.Asp233= NC_000003.12:150927974:G:A p.(Asp233=) NC_000003.12:150927974:G:A p.(Asp233=) NC_000003.12:150927974:G:A Identity +NM_001077186.2:c.5182C>A NP_001070654.1:p.Arg1728= NC_000019.10:50293256:C:A p.(Arg1728=) NC_000019.10:50293256:C:A p.(Arg1728=) NC_000019.10:50293256:C:A Identity +NM_133378.4:c.1851A>C NP_596869.4:p.Thr617= NC_000002.12:178790064:T:G p.(Thr617=) NC_000002.12:178790064:T:G p.(Thr617=) NC_000002.12:178790064:T:G Identity +NM_001172309.2:c.45T>C NP_001165780.1:p.Ala15= NC_000001.11:77917976:T:C p.(Ala15=) NC_000001.11:77917976:T:C p.(Ala15=) NC_000001.11:77917976:T:C Identity +NM_001005242.3:c.696C>T NP_001005242.2:p.Asp232= NC_000012.12:32878183:G:A p.(Asp232=) NC_000012.12:32878183:G:A p.(Asp232=) NC_000012.12:32878183:G:A Identity +NM_133261.3:c.207C>T NP_573568.1:p.Phe69= NC_000019.10:3585803:C:T p.(Phe69=) NC_000019.10:3585803:C:T p.(Phe69=) NC_000019.10:3585803:C:T Identity +NM_001287489.2:c.1221C>T NP_001274418.1:p.Pro407= NC_000002.12:26483632:G:A p.(Pro407=) NC_000002.12:26483632:G:A p.(Pro407=) NC_000002.12:26483632:G:A Identity +NM_001142544.3:c.411C>A NP_001136016.1:p.Ala137= NC_000016.10:30902346:C:A p.(Ala137=) NC_000016.10:30902346:C:A p.(Ala137=) NC_000016.10:30902346:C:A Identity +NM_032119.4:c.11745T>C NP_115495.3:p.Phe3915= NC_000005.10:90756617:T:C p.(Phe3915=) NC_000005.10:90756617:T:C p.(Phe3915=) NC_000005.10:90756617:T:C Identity +NM_002471.4:c.3393G>A NP_002462.2:p.Arg1131= NC_000014.9:23390395:C:T p.(Arg1131=) NC_000014.9:23390395:C:T p.(Arg1131=) NC_000014.9:23390395:C:T Identity +NM_001999.4:c.1351_1356del NP_001990.2:p.Tyr451_Gly452del NC_000005.10:128393243:GCCATAGCCAT:GCCAT p.(Tyr451_Gly452del) NC_000005.10:128393243:GCCATAGCCAT:GCCAT p.(Tyr451_Gly452del) NC_000005.10:128393243:GCCATA: Identity +NM_001407571.1:c.210T>C NP_001394500.1:p.Ser70= NC_000017.11:43104142:A:G p.(Ser70=) NC_000017.11:43104142:A:G p.(Ser70=) NC_000017.11:43104142:A:G Identity +NM_032043.3:c.1257G>A NP_114432.2:p.Arg419= NC_000017.11:61799182:C:T p.(Arg419=) NC_000017.11:61799182:C:T p.(Arg419=) NC_000017.11:61799182:C:T Identity +NM_000051.4:c.4416G>A NP_000042.3:p.Leu1472= NC_000011.10:108289780:G:A p.(Leu1472=) NC_000011.10:108289780:G:A p.(Leu1472=) NC_000011.10:108289780:G:A Identity +NM_000059.4:c.4245G>A NP_000050.3:p.Glu1415= NC_000013.11:32338599:G:A p.(Glu1415=) NC_000013.11:32338599:G:A p.(Glu1415=) NC_000013.11:32338599:G:A Identity +NM_005732.4:c.1992A>G NP_005723.2:p.Ala664= NC_000005.10:132595594:A:G p.(Ala664=) NC_000005.10:132595594:A:G p.(Ala664=) NC_000005.10:132595594:A:G Identity +NM_001317184.2:c.780C>T NP_001304113.1:p.Pro260= NC_000016.10:68810288:C:T p.(Pro260=) NC_000016.10:68810288:C:T p.(Pro260=) NC_000016.10:68810288:C:T Identity +NM_000314.8:c.66C>T NP_000305.3:p.Asp22= NC_000010.11:87864534:C:T p.(Asp22=) NC_000010.11:87864534:C:T p.(Asp22=) NC_000010.11:87864534:C:T Identity +NM_000251.3:c.186G>A NP_000242.1:p.Gly62= NC_000002.12:47403376:G:A p.(Gly62=) NC_000002.12:47403376:G:A p.(Gly62=) NC_000002.12:47403376:G:A Identity +NM_001024688.3:c.147T>G NP_001019859.1:p.Ala49= NC_000008.11:89980820:A:C p.(Ala49=) NC_000008.11:89980820:A:C p.(Ala49=) NC_000008.11:89980820:A:C Identity +NM_005732.4:c.927C>T NP_005723.2:p.His309= NC_000005.10:132587964:C:T p.(His309=) NC_000005.10:132587964:C:T p.(His309=) NC_000005.10:132587964:C:T Identity +NM_001317184.2:c.1710A>C NP_001304113.1:p.Thr570= NC_000016.10:68822181:A:C p.(Thr570=) NC_000016.10:68822181:A:C p.(Thr570=) NC_000016.10:68822181:A:C Identity +NM_001407585.1:c.4071A>G NP_001394514.1:p.Glu1357= NC_000017.11:43091459:T:C p.(Glu1357=) NC_000017.11:43091459:T:C p.(Glu1357=) NC_000017.11:43091459:T:C Identity +NM_000059.4:c.6216C>T NP_000050.3:p.Ser2072= NC_000013.11:32340570:C:T p.(Ser2072=) NC_000013.11:32340570:C:T p.(Ser2072=) NC_000013.11:32340570:C:T Identity +NM_032043.3:c.2274A>G NP_114432.2:p.Val758= NC_000017.11:61743117:T:C p.(Val758=) NC_000017.11:61743117:T:C p.(Val758=) NC_000017.11:61743117:T:C Identity +NM_000059.4:c.5631C>T NP_000050.3:p.Asn1877= NC_000013.11:32339985:C:T p.(Asn1877=) NC_000013.11:32339985:C:T p.(Asn1877=) NC_000013.11:32339985:C:T Identity +NM_000455.5:c.708G>A NP_000446.1:p.Val236= NC_000019.10:1220690:G:A p.(Val236=) NC_000019.10:1220690:G:A p.(Val236=) NC_000019.10:1220690:G:A Identity +NM_001330347.2:c.1470T>C NP_001317276.1:p.Ile490= NC_000011.10:94459437:A:G p.(Ile490=) NC_000011.10:94459437:A:G p.(Ile490=) NC_000011.10:94459437:A:G Identity +NM_000059.4:c.4986A>C NP_000050.3:p.Ser1662= NC_000013.11:32339340:A:C p.(Ser1662=) NC_000013.11:32339340:A:C p.(Ser1662=) NC_000013.11:32339340:A:C Identity +NM_000059.4:c.1569T>C NP_000050.3:p.His523= NC_000013.11:32333046:T:C p.(His523=) NC_000013.11:32333046:T:C p.(His523=) NC_000013.11:32333046:T:C Identity +NM_000323.2:c.1884A>T NP_000314.1:p.Pro628= NC_000010.11:43114483:A:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_005732.4:c.1068A>G NP_005723.2:p.Gln356= NC_000005.10:132588702:A:G p.(Gln356=) NC_000005.10:132588702:A:G p.(Gln356=) NC_000005.10:132588702:A:G Identity +NM_000535.7:c.1874del NP_000526.2:p.Ser624_Leu625insTer NC_000007.14:5986890:AAA:AA p.(Leu625Ter) NC_000007.14:5986890:AAA:AA p.(Leu625Ter) NC_000007.14:5986890:A: Analogous +NM_001024688.3:c.174A>G NP_001019859.1:p.Val58= NC_000008.11:89980793:T:C p.(Val58=) NC_000008.11:89980793:T:C p.(Val58=) NC_000008.11:89980793:T:C Identity +NM_000249.4:c.1551A>G NP_000240.1:p.Gly517= NC_000003.12:37028924:A:G p.(Gly517=) NC_000003.12:37028924:A:G p.(Gly517=) NC_000003.12:37028924:A:G Identity +NM_004329.3:c.1146C>A NP_004320.2:p.Gly382= NC_000010.11:86919448:C:A p.(Gly382=) NC_000010.11:86919448:C:A p.(Gly382=) NC_000010.11:86919448:C:A Identity +NM_000051.4:c.54T>C NP_000042.3:p.Asp18= NC_000011.10:108227677:T:C p.(Asp18=) NC_000011.10:108227677:T:C p.(Asp18=) NC_000011.10:108227677:T:C Identity +NM_001037343.2:c.573C>G NP_001032420.1:p.Ser191= NC_000023.11:18587971:C:G p.(Ser191=) NC_000023.11:18587971:C:G p.(Ser191=) NC_000023.11:18587971:C:G Identity +NM_000891.3:c.1080C>T NP_000882.1:p.Asp360= NC_000017.11:70176118:C:T p.(Asp360=) NC_000017.11:70176118:C:T p.(Asp360=) NC_000017.11:70176118:C:T Identity +NM_001256850.1:c.57832T>C NP_001243779.1:p.Leu19278= NC_000002.12:178588969:A:G p.(Leu19278=) NC_000002.12:178588969:A:G p.(Leu19278=) NC_000002.12:178588969:A:G Identity +NM_006517.5:c.123C>T NP_006508.2:p.Pro41= NC_000023.11:74421759:C:T p.(Pro41=) NC_000023.11:74421759:C:T p.(Pro41=) NC_000023.11:74421759:C:T Identity +NM_012186.3:c.618C>G NP_036318.1:p.Ala206= NC_000001.11:47416932:C:G p.(Ala206=) NC_000001.11:47416932:C:G p.(Ala206=) NC_000001.11:47416932:C:G Identity +NM_019066.5:c.42G>A NP_061939.3:p.Pro14= NC_000015.10:23647700:C:T p.(Pro14=) NC_000015.10:23647700:C:T p.(Pro14=) NC_000015.10:23647700:C:T Identity +NM_001318918.2:c.15C>T NP_001305847.1:p.Asp5= NC_000016.10:4332294:C:T p.(Asp5=) NC_000016.10:4332294:C:T p.(Asp5=) NC_000016.10:4332294:C:T Identity +NM_001135659.3:c.1446A>C NP_001129131.1:p.Val482= NC_000002.12:50553019:T:G p.(Val482=) NC_000002.12:50553019:T:G p.(Val482=) NC_000002.12:50553019:T:G Identity +NM_001999.4:c.1365G>T NP_001990.2:p.Gly455= NC_000005.10:128393234:C:A p.(Gly455=) NC_000005.10:128393234:C:A p.(Gly455=) NC_000005.10:128393234:C:A Identity +NM_001161529.2:c.921C>T NP_001155001.1:p.Ser307= NC_000024.10:1300600:C:T p.(Ser307=) NC_000023.11:1300600:C:T p.(Ser307=) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Identity +NM_001362949.2:c.1234C>T NP_001349878.1:p.Leu412= NC_000022.11:33337698:G:A p.(Leu412=) NC_000022.11:33337698:G:A p.(Leu412=) NC_000022.11:33337698:G:A Identity +NM_000726.5:c.1437G>A NP_000717.2:p.Gln479= NC_000002.12:151839244:C:T p.(Gln479=) NC_000002.12:151839244:C:T p.(Gln479=) NC_000002.12:151839244:C:T Identity +NM_006946.4:c.3282G>A NP_008877.2:p.Pro1094= NC_000011.10:66700816:C:T p.(Pro1094=) NC_000011.10:66700816:C:T p.(Pro1094=) NC_000011.10:66700816:C:T Identity +NM_005045.4:c.2016G>A NP_005036.2:p.Pro672= NC_000007.14:103640595:C:T p.(Pro672=) NC_000007.14:103640595:C:T p.(Pro672=) NC_000007.14:103640595:C:T Identity +NM_000093.5:c.1896C>T NP_000084.3:p.Phe632= NC_000009.12:134758256:C:T p.(Phe632=) NC_000009.12:134758256:C:T p.(Phe632=) NC_000009.12:134758256:C:T Identity +NM_007123.6:c.3861A>G NP_009054.6:p.Lys1287= NC_000001.11:216198534:T:C p.(Lys1287=) NC_000001.11:216198534:T:C p.(Lys1287=) NC_000001.11:216198534:T:C Identity +NM_001195139.2:c.2235C>G NP_001182068.2:p.Arg745= NC_000016.10:70481069:G:C p.(Arg745=) NC_000016.10:70481069:G:C p.(Arg745=) NC_000016.10:70481069:G:C Identity +NM_198525.3:c.3795G>A NP_940927.2:p.Thr1265= NC_000015.10:89628655:C:T p.(Thr1265=) NC_000015.10:89628655:C:T p.(Thr1265=) NC_000015.10:89628655:C:T Identity +NM_001037811.2:c.147C>G NP_001032900.1:p.Ala49= NC_000023.11:53433766:G:C p.(Ala49=) NC_000023.11:53433766:G:C p.(Ala49=) NC_000023.11:53433766:G:C Identity +NM_001377289.1:c.927T>C NP_001364218.1:p.Pro309= NC_000006.12:70254971:A:G p.(Pro309=) NC_000006.12:70254971:A:G p.(Pro309=) NC_000006.12:70254971:A:G Identity +NM_001166133.2:c.3312T>C NP_001159605.1:p.Ser1104= NC_000004.12:78379744:T:C p.(Ser1104=) NC_000004.12:78379744:T:C p.(Ser1104=) NC_000004.12:78379744:T:C Identity +NM_172364.5:c.2649C>T NP_758952.4:p.Cys883= NC_000012.12:1810551:G:A p.(Cys883=) NC_000012.12:1810551:G:A p.(Cys883=) NC_000012.12:1810551:G:A Identity +NM_001256850.1:c.90057A>G NP_001243779.1:p.Glu30019= NC_000002.12:178546350:T:C p.(Glu30019=) NC_000002.12:178546350:T:C p.(Glu30019=) NC_000002.12:178546350:T:C Identity +NM_000127.3:c.1065C>T NP_000118.2:p.Cys355= NC_000008.11:117835542:G:A p.(Cys355=) NC_000008.11:117835542:G:A p.(Cys355=) NC_000008.11:117835542:G:A Identity +NM_001849.4:c.483C>T NP_001840.3:p.Thr161= NC_000021.9:46112345:C:T p.(Thr161=) NC_000021.9:46112345:C:T p.(Thr161=) NC_000021.9:46112345:C:T Identity +NM_030665.4:c.1476C>T NP_109590.3:p.Pro492= NC_000017.11:17794423:C:T p.(Pro492=) NC_000017.11:17794423:C:T p.(Pro492=) NC_000017.11:17794423:C:T Identity +NM_003482.4:c.6204G>A NP_003473.3:p.Arg2068= NC_000012.12:49041684:C:T p.(Arg2068=) NC_000012.12:49041684:C:T p.(Arg2068=) NC_000012.12:49041684:C:T Identity +NM_201381.3:c.9471G>A NP_958783.1:p.Pro3157= NC_000008.11:143920253:C:T p.(Pro3157=) NC_000008.11:143920253:C:T p.(Pro3157=) NC_000008.11:143920253:C:T Identity +NM_005045.4:c.4872A>G NP_005036.2:p.Gln1624= NC_000007.14:103566287:T:C p.(Gln1624=) NC_000007.14:103566287:T:C p.(Gln1624=) NC_000007.14:103566287:T:C Identity +NM_138694.4:c.6216T>G NP_619639.3:p.Pro2072= NC_000006.12:51912481:A:C p.(Pro2072=) NC_000006.12:51912481:A:C p.(Pro2072=) NC_000006.12:51912481:A:C Identity +NM_000163.5:c.195A>G NP_000154.1:p.Ser65= NC_000005.10:42688947:A:G p.(Ser65=) NC_000005.10:42688947:A:G p.(Ser65=) NC_000005.10:42688947:A:G Identity +NM_198506.5:c.1182A>G NP_940908.3:p.Thr394= NC_000004.12:109869930:A:G p.(Thr394=) NC_000004.12:109869930:A:G p.(Thr394=) NC_000004.12:109869930:A:G Identity +NM_000088.4:c.3060C>T NP_000079.2:p.Ala1020= NC_000017.11:50188780:G:A p.(Ala1020=) NC_000017.11:50188780:G:A p.(Ala1020=) NC_000017.11:50188780:G:A Identity +NM_001271620.2:c.603C>T NP_001258549.1:p.Asp201= NC_000016.10:49638368:G:A p.(Asp201=) NC_000016.10:49638368:G:A p.(Asp201=) NC_000016.10:49638368:G:A Identity +NM_001365684.2:c.2889C>T NP_001352613.2:p.Pro963= NC_000005.10:177212160:C:T p.(Pro963=) NC_000005.10:177212160:C:T p.(Pro963=) NC_000005.10:177212160:C:T Identity +NM_198525.3:c.1266C>G NP_940927.2:p.Leu422= NC_000015.10:89648431:G:C p.(Leu422=) NC_000015.10:89648431:G:C p.(Leu422=) NC_000015.10:89648431:G:C Identity +NM_001142649.2:c.225G>C NP_001136121.1:p.Gly75= NC_000011.10:22221143:G:C p.(Gly75=) NC_000011.10:22221143:G:C p.(Gly75=) NC_000011.10:22221143:G:C Identity +NM_000036.3:c.636C>T NP_000027.3:p.Asp212= NC_000001.11:114680389:G:A p.(Asp212=) NC_000001.11:114680389:G:A p.(Asp212=) NC_000001.11:114680389:G:A Identity +NM_000163.5:c.558A>G NP_000154.1:p.Gly186= NC_000005.10:42699941:A:G p.(Gly186=) NC_000005.10:42699941:A:G p.(Gly186=) NC_000005.10:42699941:A:G Identity +NM_014244.5:c.1122C>T NP_055059.2:p.Ser374= NC_000005.10:179158732:G:A p.(Ser374=) NC_000005.10:179158732:G:A p.(Ser374=) NC_000005.10:179158732:G:A Identity +NM_001363147.1:c.557_560delinsTTGTCGAGGTAAGTGT NP_001350076.1:p.Pro186_Asp187delinsLeuValGluValSerVal NC_000005.10:71604400:CAGA:TTGTCGAGGTAAGTGT p.(Pro186_Asp187delinsLeuValGluValSerVal) NC_000005.10:71604400:CAGA:TTGTCGAGGTAAGTGT p.(Pro186_Asp187delinsLeuValGluValSerVal) NC_000005.10:71604400:CAGA:TTGTCGAGGTAAGTGT Identity +NM_001114978.2:c.1083G>A NP_001108450.1:p.Lys361= NC_000003.12:189868669:G:A p.(Lys361=) NC_000003.12:189868669:G:A p.(Lys361=) NC_000003.12:189868669:G:A Identity +NM_004463.3:c.1617G>A NP_004454.2:p.Pro539= NC_000023.11:54465469:C:T p.(Pro539=) NC_000023.11:54465469:C:T p.(Pro539=) NC_000023.11:54465469:C:T Identity +NM_001375397.1:c.555G>A NP_001362326.1:p.Ala185= NC_000006.12:53018437:C:T p.(Ala185=) NC_000006.12:53018437:C:T p.(Ala185=) NC_000006.12:53018437:C:T Identity +NM_000425.5:c.1002C>T NP_000416.1:p.Tyr334= NC_000023.11:153869923:G:A p.(Tyr334=) NC_000023.11:153869923:G:A p.(Tyr334=) NC_000023.11:153869923:G:A Identity +NM_000030.3:c.557_562delinsATCGGT NP_000021.1:p.Ala186_Ser187delinsAspArg NC_000002.12:240873010:CATCCC:ATCGGT p.(Ala186_Ser187delinsAspArg) NC_000002.12:240873010:CATCCC:ATCGGT p.(Ala186_Ser187delinsAspArg) NC_000002.12:240873010:CATCCC:ATCGGT Identity +NM_000742.4:c.987C>T NP_000733.2:p.Gly329= NC_000008.11:27463455:G:A p.(Gly329=) NC_000008.11:27463455:G:A p.(Gly329=) NC_000008.11:27463455:G:A Identity +NM_018941.4:c.546G>A NP_061764.2:p.Ala182= NC_000008.11:1780251:G:A p.(Ala182=) NC_000008.11:1780251:G:A p.(Ala182=) NC_000008.11:1780251:G:A Identity +NM_001167961.2:c.192A>G NP_001161433.1:p.Thr64= NC_000007.14:66633321:A:G p.(Thr64=) NC_000007.14:66633321:A:G p.(Thr64=) NC_000007.14:66633321:A:G Identity +NM_001271893.4:c.229_234dup NP_001258822.1:p.Gln77_Arg78dup NC_000002.12:238848438:AGCGCCAGCGC:AGCGCCAGCGCCAGCGC p.(Gln77_Arg78dup) NC_000002.12:238848438:AGCGCCAGCGC:AGCGCCAGCGCCAGCGC p.(Gln77_Arg78dup) ERR:SPDI Identity +NM_000356.4:c.3711A>C NP_000347.2:p.Ser1237= NC_000005.10:150396441:A:C p.(Ser1237=) NC_000005.10:150396441:A:C p.(Ser1237=) NC_000005.10:150396441:A:C Identity +NM_006579.3:c.201_203dup NP_006570.1:p.Cys67dup NC_000023.11:48523969:TGCTG:TGCTGCTG p.(Cys67dup) NC_000023.11:48523969:TGCTG:TGCTGCTG p.(Cys67dup) ERR:SPDI Identity +NM_001258329.1:c.57G>A NP_001245258.1:p.Pro19= NC_000020.11:36173833:G:A p.(Pro19=) NC_000020.11:36173833:G:A p.(Pro19=) NC_000020.11:36173833:G:A Identity +NM_024306.5:c.762C>T NP_077282.3:p.Phe254= NC_000016.10:74719011:G:A p.(Phe254=) NC_000016.10:74719011:G:A p.(Phe254=) NC_000016.10:74719011:G:A Identity +NM_001999.4:c.8247A>G NP_001990.2:p.Thr2749= NC_000005.10:128261852:T:C p.(Thr2749=) NC_000005.10:128261852:T:C p.(Thr2749=) NC_000005.10:128261852:T:C Identity +NM_000834.5:c.4077C>T NP_000825.2:p.Ala1359= NC_000012.12:13563160:G:A p.(Ala1359=) NC_000012.12:13563160:G:A p.(Ala1359=) NC_000012.12:13563160:G:A Identity +NM_004525.3:c.39C>T NP_004516.2:p.Leu13= NC_000002.12:169362360:G:A p.(Leu13=) NC_000002.12:169362360:G:A p.(Leu13=) NC_000002.12:169362360:G:A Identity +NM_001110792.2:c.750G>A NP_001104262.1:p.Gly250= NC_000023.11:154031113:C:T p.(Gly250=) NC_000023.11:154031113:C:T p.(Gly250=) NC_000023.11:154031113:C:T Identity +NM_004268.5:c.1449C>G NP_004259.3:p.Gly483= NC_000011.10:93801954:C:G p.(Gly483=) NC_000011.10:93801954:C:G p.(Gly483=) NC_000011.10:93801954:C:G Identity +NM_004268.5:c.1500G>A NP_004259.3:p.Glu500= NC_000011.10:93807550:G:A p.(Glu500=) NC_000011.10:93807550:G:A p.(Glu500=) NC_000011.10:93807550:G:A Identity +NM_016350.5:c.2244C>T NP_057434.4:p.Ser748= NC_000014.9:50760011:G:A p.(Ser748=) NC_000014.9:50760011:G:A p.(Ser748=) NC_000014.9:50760011:G:A Identity +NM_016350.5:c.612G>A NP_057434.4:p.Arg204= NC_000014.9:50777002:C:T p.(Arg204=) NC_000014.9:50777002:C:T p.(Arg204=) NC_000014.9:50777002:C:T Identity +NM_000093.5:c.4788G>C NP_000084.3:p.Gly1596= NC_000009.12:134824688:G:C p.(Gly1596=) NC_000009.12:134824688:G:C p.(Gly1596=) NC_000009.12:134824688:G:C Identity +NM_001999.4:c.5670T>C NP_001990.2:p.Cys1890= NC_000005.10:128305514:A:G p.(Cys1890=) NC_000005.10:128305514:A:G p.(Cys1890=) NC_000005.10:128305514:A:G Identity +NM_001166110.2:c.78C>T NP_001159582.1:p.Phe26= NC_000004.12:168877968:C:T p.(Phe26=) NC_000004.12:168877968:C:T p.(Phe26=) NC_000004.12:168877968:C:T Identity +NM_001378355.1:c.1794C>T NP_001365284.1:p.Ala598= NC_000019.10:49835773:C:T p.(Ala598=) NC_000019.10:49835773:C:T p.(Ala598=) NC_000019.10:49835773:C:T Identity +NM_000038.6:c.792A>G NP_000029.2:p.Gln264= NC_000005.10:112801340:A:G p.(Gln264=) NC_000005.10:112801340:A:G p.(Gln264=) NC_000005.10:112801340:A:G Identity +NM_000075.4:c.141A>C NP_000066.1:p.Gly47= NC_000012.12:57751576:T:G p.(Gly47=) NC_000012.12:57751576:T:G p.(Gly47=) NC_000012.12:57751576:T:G Identity +NM_001048171.2:c.897T>C NP_001041636.2:p.Pro299= NC_000001.11:45332038:A:G p.(Pro299=) NC_000001.11:45332038:A:G p.(Pro299=) NC_000001.11:45332038:A:G Identity +NM_003923.3:c.15C>T NP_003914.1:p.Ser5= NC_000008.11:144475741:G:A p.(Ser5=) NC_000008.11:144475741:G:A p.(Ser5=) NC_000008.11:144475741:G:A Identity +NM_001135242.2:c.1152C>T NP_001128714.1:p.Ser384= NC_000008.11:133238910:G:A p.(Ser384=) NC_000008.11:133238910:G:A p.(Ser384=) NC_000008.11:133238910:G:A Identity +NM_000244.4:c.115T>C NP_000235.3:p.Leu39= NC_000011.10:64809994:A:G p.(Leu39=) NC_000011.10:64809994:A:G p.(Leu39=) NC_000011.10:64809994:A:G Identity +NM_005732.4:c.123A>T NP_005723.2:p.Gly41= NC_000005.10:132557446:A:T p.(Gly41=) NC_000005.10:132557446:A:T p.(Gly41=) NC_000005.10:132557446:A:T Identity +NM_000059.4:c.4338T>C NP_000050.3:p.Ile1446= NC_000013.11:32338692:T:C p.(Ile1446=) NC_000013.11:32338692:T:C p.(Ile1446=) NC_000013.11:32338692:T:C Identity +NM_000238.4:c.1809C>T NP_000229.1:p.Gly603= NC_000007.14:150951583:G:A p.(Gly603=) NC_000007.14:150951583:G:A p.(Gly603=) NC_000007.14:150951583:G:A Identity +NM_000038.6:c.4332A>G NP_000029.2:p.Gln1444= NC_000005.10:112839925:A:G p.(Gln1444=) NC_000005.10:112839925:A:G p.(Gln1444=) NC_000005.10:112839925:A:G Identity +NM_000136.3:c.1594A>C NP_000127.2:p.Arg532= NC_000009.12:95101789:T:G p.(Arg532=) NC_000009.12:95101789:T:G p.(Arg532=) NC_000009.12:95101789:T:G Identity +NM_000051.4:c.2736G>A NP_000042.3:p.Gln912= NC_000011.10:108268506:G:A p.(Gln912=) NC_000011.10:108268506:G:A p.(Gln912=) NC_000011.10:108268506:G:A Identity +NM_000264.5:c.3606C>T NP_000255.2:p.Pro1202= NC_000009.12:95449266:G:A p.(Pro1202=) NC_000009.12:95449266:G:A p.(Pro1202=) NC_000009.12:95449266:G:A Identity +NM_001378454.1:c.1571CTC[3] NP_001365383.1:p.Pro525dup NC_000002.12:73448097:CTCCTC:CTCCTCCTC p.(Pro525dup) NC_000002.12:73448097:C:CTCCTCCTC ERR:Parse ERR:Parse Identity +NM_000169.3:c.894T>C NP_000160.1:p.Asn298= NC_000023.11:101398474:A:G p.(Asn298=) NC_000023.11:101398474:A:G p.(Asn298=) NC_000023.11:101398474:A:G Identity +NM_000551.4:c.641G>T NP_000542.1:p.Ter214Leu NC_000003.12:10149963:G:T p.(Ter214LeuextTer14) NC_000003.12:10149963:G:T p.(Ter214LeuextTer14) NC_000003.12:10149963:G:T Analogous +NM_000059.4:c.2136G>T NP_000050.3:p.Leu712= NC_000013.11:32336490:G:T p.(Leu712=) NC_000013.11:32336490:G:T p.(Leu712=) NC_000013.11:32336490:G:T Identity +NM_001252020.2:c.1314G>A NP_001238949.1:p.Pro438= NC_000015.10:31060543:C:T p.(Pro438=) NC_000015.10:31060543:C:T p.(Pro438=) NC_000015.10:31060543:C:T Identity +NM_000720.4:c.2760C>T NP_000711.1:p.Ser920= NC_000003.12:53735451:C:T p.(Ser920=) NC_000003.12:53735451:C:T p.(Ser920=) NC_000003.12:53735451:C:T Identity +NM_000720.4:c.6111G>A NP_000711.1:p.Pro2037= NC_000003.12:53810156:G:A p.(Pro2037=) NC_000003.12:53810156:G:A p.(Pro2037=) NC_000003.12:53810156:G:A Identity +NM_001271888.2:c.174G>A NP_001258817.1:p.Ser58= NC_000015.10:78109277:C:T p.(Ser58=) NC_000015.10:78109277:C:T p.(Ser58=) NC_000015.10:78109277:C:T Identity +NM_001308258.2:c.1560G>A NP_001295187.1:p.Leu520= NC_000003.12:149160227:G:A p.(Leu520=) NC_000003.12:149160227:G:A p.(Leu520=) NC_000003.12:149160227:G:A Identity +LRG_1353t1:c.2307C>T LRG_1353p1:p.Ser769= NC_000003.12:45524010:C:T ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found ERR:AlignmentMapper(tx_ac=LRG_1353t1, alt_ac=LRG_1353t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1353t1, alt_ac=LRG_1353t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found +NM_016239.4:c.876C>T NP_057323.3:p.Pro292= NC_000017.11:18119675:C:T p.(Pro292=) NC_000017.11:18119675:C:T p.(Pro292=) NC_000017.11:18119675:C:T Identity +NM_001256267.2:c.1122G>A NP_001243196.1:p.Glu374= NC_000010.11:68145517:G:A p.(Glu374=) NC_000010.11:68145517:G:A p.(Glu374=) NC_000010.11:68145517:G:A Identity +NM_001277269.2:c.7098T>C NP_001264198.1:p.Ser2366= NC_000011.10:17632215:T:C p.(Ser2366=) NC_000011.10:17632215:T:C p.(Ser2366=) NC_000011.10:17632215:T:C Identity +NM_001368062.3:c.1350A>G NP_001354991.2:p.Leu450= NC_000012.12:80253529:A:G p.(Leu450=) NC_000012.12:80253529:A:G p.(Leu450=) NC_000012.12:80253529:A:G Identity +NM_001368062.3:c.5172T>C NP_001354991.2:p.Tyr1724= NC_000012.12:80352335:T:C p.(Tyr1724=) NC_000012.12:80352335:T:C p.(Tyr1724=) NC_000012.12:80352335:T:C Identity +NM_001368062.3:c.6912G>A NP_001354991.2:p.Thr2304= NC_000012.12:80378032:G:A p.(Thr2304=) NC_000012.12:80378032:G:A p.(Thr2304=) NC_000012.12:80378032:G:A Identity +NM_001127366.3:c.876G>T NP_001120838.1:p.Gly292= NC_000002.12:222221300:C:A p.(Gly292=) NC_000002.12:222221300:C:A p.(Gly292=) NC_000002.12:222221300:C:A Identity +NM_022114.4:c.444C>T NP_071397.3:p.Ser148= NC_000001.11:3385156:C:T p.(Ser148=) NC_000001.11:3385156:C:T p.(Ser148=) NC_000001.11:3385156:C:T Identity +NM_001098668.4:c.648T>C NP_001092138.1:p.Pro216= NC_000010.11:79557307:A:G p.(Pro216=) NC_000010.11:79557307:A:G p.(Pro216=) NC_000010.11:79557307:A:G Identity +NM_001195794.1:c.226T>C NP_001182723.1:p.Leu76= NC_000003.12:150972482:A:G p.(Leu76=) NC_000003.12:150972482:A:G p.(Leu76=) NC_000003.12:150972482:A:G Identity +NM_001943.5:c.2127T>C NP_001934.2:p.His709= NC_000018.10:31542644:T:C p.(His709=) NC_000018.10:31542644:T:C p.(His709=) NC_000018.10:31542644:T:C Identity +NM_001278731.2:c.1002T>G NP_001265660.1:p.Ala334= NC_000005.10:140697285:T:G p.(Ala334=) NC_000005.10:140697285:T:G p.(Ala334=) NC_000005.10:140697285:T:G Identity +NM_001161683.2:c.1584G>A NP_001155155.1:p.Ala528= NC_000016.10:21722918:G:A p.(Ala528=) NC_000016.10:21722918:G:A p.(Ala528=) NC_000016.10:21722918:G:A Identity +NM_001199107.2:c.1467C>T NP_001186036.1:p.Asn489= NC_000016.10:2500431:C:T p.(Asn489=) NC_000016.10:2500431:C:T p.(Asn489=) NC_000016.10:2500431:C:T Identity +NM_001378761.1:c.5001C>T NP_001365690.1:p.Tyr1667= NC_000011.10:121146054:C:T p.(Tyr1667=) NC_000011.10:121146054:C:T p.(Tyr1667=) NC_000011.10:121146054:C:T Identity +NM_133378.4:c.18261T>C NP_596869.4:p.Pro6087= NC_000002.12:178722905:A:G p.(Pro6087=) NC_000002.12:178722905:A:G p.(Pro6087=) NC_000002.12:178722905:A:G Identity +NM_206933.4:c.10518G>A NP_996816.3:p.Thr3506= NC_000001.11:215782804:C:T p.(Thr3506=) NC_000001.11:215782804:C:T p.(Thr3506=) NC_000001.11:215782804:C:T Identity +NM_001256267.2:c.3156C>T NP_001243196.1:p.His1052= NC_000010.11:68195529:C:T p.(His1052=) NC_000010.11:68195529:C:T p.(His1052=) NC_000010.11:68195529:C:T Identity +NM_001039876.3:c.616C>T NP_001034965.1:p.Leu206= NC_000019.10:36006751:G:A p.(Leu206=) NC_000019.10:36006751:G:A p.(Leu206=) NC_000019.10:36006751:G:A Identity +NM_001407666.1:c.2502A>T NP_001394595.1:p.Pro834= NC_000017.11:43092905:T:A p.(Pro834=) NC_000017.11:43092905:T:A p.(Pro834=) NC_000017.11:43092905:T:A Identity +NM_000465.4:c.585T>C NP_000456.2:p.Ala195= NC_000002.12:214781288:A:G p.(Ala195=) NC_000002.12:214781288:A:G p.(Ala195=) NC_000002.12:214781288:A:G Identity +NM_001407689.1:c.3462A>G NP_001394618.1:p.Thr1154= NC_000017.11:43091942:T:C p.(Thr1154=) NC_000017.11:43091942:T:C p.(Thr1154=) NC_000017.11:43091942:T:C Identity +NM_000059.4:c.165C>T NP_000050.3:p.Asn55= NC_000013.11:32319173:C:T p.(Asn55=) NC_000013.11:32319173:C:T p.(Asn55=) NC_000013.11:32319173:C:T Identity +NM_005732.4:c.2445G>A NP_005723.2:p.Lys815= NC_000005.10:132603966:G:A p.(Lys815=) NC_000005.10:132603966:G:A p.(Lys815=) NC_000005.10:132603966:G:A Identity +NM_001317184.2:c.786C>T NP_001304113.1:p.Phe262= NC_000016.10:68810294:C:T p.(Phe262=) NC_000016.10:68810294:C:T p.(Phe262=) NC_000016.10:68810294:C:T Identity +NM_000249.4:c.1824T>G NP_000240.1:p.Ala608= NC_000003.12:37047610:T:G p.(Ala608=) NC_000003.12:37047610:T:G p.(Ala608=) NC_000003.12:37047610:T:G Identity +NM_000051.4:c.4917G>A NP_000042.3:p.Pro1639= NC_000011.10:108297293:G:A p.(Pro1639=) NC_000011.10:108297293:G:A p.(Pro1639=) NC_000011.10:108297293:G:A Identity +NM_000059.4:c.3666T>G NP_000050.3:p.Ala1222= NC_000013.11:32338020:T:G p.(Ala1222=) NC_000013.11:32338020:T:G p.(Ala1222=) NC_000013.11:32338020:T:G Identity +NM_001407571.1:c.306T>A NP_001394500.1:p.Pro102= NC_000017.11:43099802:A:T p.(Pro102=) NC_000017.11:43099802:A:T p.(Pro102=) NC_000017.11:43099802:A:T Identity +NM_000051.4:c.903T>G NP_000042.3:p.Gly301= NC_000011.10:108246964:T:G p.(Gly301=) NC_000011.10:108246964:T:G p.(Gly301=) NC_000011.10:108246964:T:G Identity +NM_000038.6:c.358A>C NP_000029.2:p.Arg120= NC_000005.10:112767325:A:C p.(Arg120=) NC_000005.10:112767325:A:C p.(Arg120=) NC_000005.10:112767325:A:C Identity +NM_032043.3:c.1074A>C NP_114432.2:p.Leu358= NC_000017.11:61801318:T:G p.(Leu358=) NC_000017.11:61801318:T:G p.(Leu358=) NC_000017.11:61801318:T:G Identity +NM_000465.4:c.864T>C NP_000456.2:p.Ser288= NC_000002.12:214781009:A:G p.(Ser288=) NC_000002.12:214781009:A:G p.(Ser288=) NC_000002.12:214781009:A:G Identity +NM_000323.2:c.1341C>T NP_000314.1:p.Ala447= NC_000010.11:43111283:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000051.4:c.4506C>T NP_000042.3:p.Cys1502= NC_000011.10:108292687:C:T p.(Cys1502=) NC_000011.10:108292687:C:T p.(Cys1502=) NC_000011.10:108292687:C:T Identity +NM_000251.3:c.1242A>T NP_000242.1:p.Leu414= NC_000002.12:47429906:A:T p.(Leu414=) NC_000002.12:47429906:A:T p.(Leu414=) NC_000002.12:47429906:A:T Identity +NM_000465.4:c.6G>T NP_000456.2:p.Pro2= NC_000002.12:214809563:C:A p.(Pro2=) NC_000002.12:214809563:C:A p.(Pro2=) NC_000002.12:214809563:C:A Identity +NM_000251.3:c.2094G>A NP_000242.1:p.Glu698= NC_000002.12:47476454:G:A p.(Glu698=) NC_000002.12:47476454:G:A p.(Glu698=) NC_000002.12:47476454:G:A Identity +NM_000051.4:c.1779A>C NP_000042.3:p.Thr593= NC_000011.10:108252007:A:C p.(Thr593=) NC_000011.10:108252007:A:C p.(Thr593=) NC_000011.10:108252007:A:C Identity +NM_000251.3:c.1731T>C NP_000242.1:p.Ile577= NC_000002.12:47471033:T:C p.(Ile577=) NC_000002.12:47471033:T:C p.(Ile577=) NC_000002.12:47471033:T:C Identity +NM_000038.6:c.5472T>C NP_000029.2:p.Asn1824= NC_000005.10:112841065:T:C p.(Asn1824=) NC_000005.10:112841065:T:C p.(Asn1824=) NC_000005.10:112841065:T:C Identity +NM_001351059.2:c.351G>C NP_001337988.1:p.Leu117= NC_000011.10:68047511:G:C p.(Leu117=) NC_000011.10:68047511:G:C p.(Leu117=) NC_000011.10:68047511:G:C Identity +NM_000057.4:c.2838A>G NP_000048.1:p.Thr946= NC_000015.10:90790662:A:G p.(Thr946=) NC_000015.10:90790662:A:G p.(Thr946=) NC_000015.10:90790662:A:G Identity +NM_000059.4:c.5445T>C NP_000050.3:p.Thr1815= NC_000013.11:32339799:T:C p.(Thr1815=) NC_000013.11:32339799:T:C p.(Thr1815=) NC_000013.11:32339799:T:C Identity +NM_000059.4:c.9301C>T NP_000050.3:p.Leu3101= NC_000013.11:32394732:C:T p.(Leu3101=) NC_000013.11:32394732:C:T p.(Leu3101=) NC_000013.11:32394732:C:T Identity +NM_000143.4:c.1482A>G NP_000134.2:p.Ala494= NC_000001.11:241497878:T:C p.(Ala494=) NC_000001.11:241497878:T:C p.(Ala494=) NC_000001.11:241497878:T:C Identity +NM_000222.3:c.102G>A NP_000213.1:p.Pro34= NC_000004.12:54695545:G:A p.(Pro34=) NC_000004.12:54695545:G:A p.(Pro34=) NC_000004.12:54695545:G:A Identity +NM_000321.3:c.982_987del NP_000312.2:p.Asn328_Lys329del NC_000013.11:48367531:TAAAAATAAA:TAAA p.(Asn328_Lys329del) NC_000013.11:48367531:TAAAAATAAA:TAAA p.(Asn328_Lys329del) NC_000013.11:48367535:AATAAA: Identity +NM_000553.6:c.1788T>C NP_000544.2:p.Ser596= NC_000008.11:31090900:T:C p.(Ser596=) NC_000008.11:31090900:T:C p.(Ser596=) NC_000008.11:31090900:T:C Identity +NM_000719.7:c.6111G>A NP_000710.5:p.Val2037= NC_000012.12:2688772:G:A p.(Val2037=) NC_000012.12:2688772:G:A p.(Val2037=) NC_000012.12:2688772:G:A Identity +NM_000744.7:c.876C>T NP_000735.1:p.Ile292= NC_000020.11:63350534:G:A p.(Ile292=) NC_000020.11:63350534:G:A p.(Ile292=) NC_000020.11:63350534:G:A Identity +NM_001128844.3:c.1344C>T NP_001122316.1:p.Arg448= NC_000019.10:10991247:C:T p.(Arg448=) NC_000019.10:10991247:C:T p.(Arg448=) NC_000019.10:10991247:C:T Identity +NM_001128844.3:c.1410G>A NP_001122316.1:p.Gln470= NC_000019.10:10991313:G:A p.(Gln470=) NC_000019.10:10991313:G:A p.(Gln470=) NC_000019.10:10991313:G:A Identity +NM_001128844.3:c.1476C>T NP_001122316.1:p.Ser492= NC_000019.10:10994883:C:T p.(Ser492=) NC_000019.10:10994883:C:T p.(Ser492=) NC_000019.10:10994883:C:T Identity +NM_001128844.3:c.2022G>A NP_001122316.1:p.Pro674= NC_000019.10:11007921:G:A p.(Pro674=) NC_000019.10:11007921:G:A p.(Pro674=) NC_000019.10:11007921:G:A Identity +NM_001128844.3:c.246G>A NP_001122316.1:p.Lys82= NC_000019.10:10985295:G:A p.(Lys82=) NC_000019.10:10985295:G:A p.(Lys82=) NC_000019.10:10985295:G:A Identity +NM_001128844.3:c.255G>A NP_001122316.1:p.Ser85= NC_000019.10:10985304:G:A p.(Ser85=) NC_000019.10:10985304:G:A p.(Ser85=) NC_000019.10:10985304:G:A Identity +NM_001128844.3:c.2652C>T NP_001122316.1:p.His884= NC_000019.10:11021759:C:T p.(His884=) NC_000019.10:11021759:C:T p.(His884=) NC_000019.10:11021759:C:T Identity +NM_001128844.3:c.2850C>T NP_001122316.1:p.Thr950= NC_000019.10:11021957:C:T p.(Thr950=) NC_000019.10:11021957:C:T p.(Thr950=) NC_000019.10:11021957:C:T Identity +NM_001128844.3:c.3009G>T NP_001122316.1:p.Leu1003= NC_000019.10:11024365:G:T p.(Leu1003=) NC_000019.10:11024365:G:T p.(Leu1003=) NC_000019.10:11024365:G:T Identity +NM_001128844.3:c.4308G>A NP_001122316.1:p.Glu1436= NC_000019.10:11041443:G:A p.(Glu1436=) NC_000019.10:11041443:G:A p.(Glu1436=) NC_000019.10:11041443:G:A Identity +NM_001232.4:c.1011A>T NP_001223.2:p.Thr337= NC_000001.11:115702923:T:A p.(Thr337=) NC_000001.11:115702923:T:A p.(Thr337=) NC_000001.11:115702923:T:A Identity +NM_002471.4:c.3378C>T NP_002462.2:p.Ala1126= NC_000014.9:23390410:G:A p.(Ala1126=) NC_000014.9:23390410:G:A p.(Ala1126=) NC_000014.9:23390410:G:A Identity +NM_004260.4:c.1864C>T NP_004251.4:p.Leu622= NC_000008.11:144514202:G:A p.(Leu622=) NC_000008.11:144514202:G:A p.(Leu622=) NC_000008.11:144514202:G:A Identity +NM_004260.4:c.274= NP_004251.4:p.Ser92= NC_000008.11:144517129:A:A p.(Ser92=) NC_000008.11:144517129:A: p.(Ser92=) NC_000008.11:144517129:A:A Identity +NM_001353765.2:c.1404G>A NP_001340694.1:p.Glu468= NC_000002.12:29193478:C:T p.(Glu468=) NC_000002.12:29193478:C:T p.(Glu468=) NC_000002.12:29193478:C:T Identity +NM_001363813.1:c.1404CCA[8] NP_001350742.1:p.His473_His474dup NC_000017.11:65537614:TGGTGGTGGTGGTGGTGGT:TGGTGGTGGTGGTGGTGGTGGTGGT p.(His473_His474dup) NC_000017.11:65537631:G:TGGTGGTGGTGGTGGTGGTGGTGG ERR:Parse ERR:Parse Identity +NM_004656.4:c.1344G>A NP_004647.1:p.Leu448= NC_000003.12:52403800:C:T p.(Leu448=) NC_000003.12:52403800:C:T p.(Leu448=) NC_000003.12:52403800:C:T Identity +NM_001018041.2:c.210G>A NP_001018051.1:p.Glu70= NC_000006.12:145735288:C:T p.(Glu70=) NC_000006.12:145735288:C:T p.(Glu70=) NC_000006.12:145735288:C:T Identity +NM_005732.4:c.1605T>C NP_005723.2:p.Arg535= NC_000005.10:132591375:T:C p.(Arg535=) NC_000005.10:132591375:T:C p.(Arg535=) NC_000005.10:132591375:T:C Identity +NM_005732.4:c.978T>C NP_005723.2:p.His326= NC_000005.10:132588015:T:C p.(His326=) NC_000005.10:132588015:T:C p.(His326=) NC_000005.10:132588015:T:C Identity +NM_005751.5:c.2589G>A NP_005742.4:p.Glu863= NC_000007.14:92002505:G:A p.(Glu863=) NC_000007.14:92002505:G:A p.(Glu863=) NC_000007.14:92002505:G:A Identity +NM_001145102.2:c.288C>T NP_001138574.1:p.Asp96= NC_000015.10:67166848:C:T p.(Asp96=) NC_000015.10:67166848:C:T p.(Asp96=) NC_000015.10:67166848:C:T Identity +NM_006172.4:c.252C>T NP_006163.1:p.Thr84= NC_000001.11:11847310:G:A p.(Thr84=) NC_000001.11:11847310:G:A p.(Thr84=) NC_000001.11:11847310:G:A Identity +NM_001347827.2:c.669C>T NP_001334756.1:p.Thr223= NC_000004.12:54264958:C:T p.(Thr223=) NC_000004.12:54264958:C:T p.(Thr223=) NC_000004.12:54264958:C:T Identity +NM_006231.4:c.2505C>G NP_006222.2:p.Val835= NC_000012.12:132664425:G:C p.(Val835=) NC_000012.12:132664425:G:C p.(Val835=) NC_000012.12:132664425:G:C Identity +NM_006231.4:c.3069C>T NP_006222.2:p.Asn1023= NC_000012.12:132659500:G:A p.(Asn1023=) NC_000012.12:132659500:G:A p.(Asn1023=) NC_000012.12:132659500:G:A Identity +NM_006231.4:c.4593A>T NP_006222.2:p.Ser1531= NC_000012.12:132642954:T:A p.(Ser1531=) NC_000012.12:132642954:T:A p.(Ser1531=) NC_000012.12:132642954:T:A Identity +NM_006393.3:c.2724A>T NP_006384.1:p.Ser908= NC_000010.11:20808546:T:A p.(Ser908=) NC_000010.11:20808546:T:A p.(Ser908=) NC_000010.11:20808546:T:A Identity +NM_001293306.2:c.3252G>A NP_001280235.2:p.Glu1084= NC_000003.12:38723526:C:T p.(Glu1084=) NC_000003.12:38723526:C:T p.(Glu1084=) NC_000003.12:38723526:C:T Identity +NM_001407571.1:c.1491T>C NP_001394500.1:p.Pro497= NC_000017.11:43093826:A:G p.(Pro497=) NC_000017.11:43093826:A:G p.(Pro497=) NC_000017.11:43093826:A:G Identity +NM_001408446.1:c.1422T>C NP_001395375.1:p.Thr474= NC_000017.11:43071053:A:G p.(Thr474=) NC_000017.11:43071053:A:G p.(Thr474=) NC_000017.11:43071053:A:G Identity +NM_001378454.1:c.2661A>G NP_001365383.1:p.Val887= NC_000002.12:73449187:A:G p.(Val887=) NC_000002.12:73449187:A:G p.(Val887=) NC_000002.12:73449187:A:G Identity +NM_015346.4:c.7407T>C NP_056161.2:p.Asp2469= NC_000014.9:67751060:A:G p.(Asp2469=) NC_000014.9:67751060:A:G p.(Asp2469=) NC_000014.9:67751060:A:G Identity +NM_017882.3:c.61_62insCGG NP_060352.1:p.Leu20_Gly21insAla NC_000015.10:68229523:CC:CCGCC p.(Leu20_Gly21insAla) NC_000015.10:68229522:C:CCG p.(Leu20_Gly21insAla) NC_000015.10:68229523:CC:CCG Identity +NM_001308133.2:c.2112A>G NP_001295062.1:p.Gln704= NC_000014.9:45173083:A:G p.(Gln704=) NC_000014.9:45173083:A:G p.(Gln704=) NC_000014.9:45173083:A:G Identity +NM_001346599.2:c.498C>T NP_001333528.1:p.Ile166= NC_000007.14:105547225:C:T p.(Ile166=) NC_000007.14:105547225:C:T p.(Ile166=) NC_000007.14:105547225:C:T Identity +NM_024675.4:c.1374T>C NP_078951.2:p.Thr458= NC_000016.10:23635171:A:G p.(Thr458=) NC_000016.10:23635171:A:G p.(Thr458=) NC_000016.10:23635171:A:G Identity +NM_032444.4:c.3963G>A NP_115820.2:p.Pro1321= NC_000016.10:3589674:C:T p.(Pro1321=) NC_000016.10:3589674:C:T p.(Pro1321=) NC_000016.10:3589674:C:T Identity +NM_001271282.3:c.5520A>G NP_001258211.1:p.Pro1840= NC_000014.9:95091209:T:C p.(Pro1840=) NC_000014.9:95091209:T:C p.(Pro1840=) NC_000014.9:95091209:T:C Identity +NM_001330430.4:c.178= NP_001317359.1:p.Leu60= NC_000001.11:25408839:G:G p.(Leu60=) NC_000001.11:25408839:G: p.(Leu60=) NC_000001.11:25408839:G:G Identity +NM_000833.5:c.1273del NP_000824.1:p.Pro424_Leu425insTer NC_000016.10:9849810:GGGGG:GGGG p.(Leu425Ter) NC_000016.10:9849810:GGGGG:GGGG p.(Leu425Ter) NC_000016.10:9849810:G: Analogous +NM_000834.5:c.3549G>A NP_000825.2:p.Thr1183= NC_000012.12:13563688:C:T p.(Thr1183=) NC_000012.12:13563688:C:T p.(Thr1183=) NC_000012.12:13563688:C:T Identity +NM_000527.5:c.1911C>T NP_000518.1:p.Ser637= NC_000019.10:11120156:C:T p.(Ser637=) NC_000019.10:11120156:C:T p.(Ser637=) NC_000019.10:11120156:C:T Identity +NM_001407571.1:c.1011del NP_001394500.1:p.Lys337_Val338insTer NC_000017.11:43094306:TTT:TT p.(Val338Ter) NC_000017.11:43094306:TTT:TT p.(Val338Ter) NC_000017.11:43094306:T: Analogous +NM_000018.4:c.822C>T NP_000009.1:p.Ala274= NC_000017.11:7222245:C:T p.(Ala274=) NC_000017.11:7222245:C:T p.(Ala274=) NC_000017.11:7222245:C:T Identity +NM_000069.3:c.2673C>T NP_000060.2:p.Ser891= NC_000001.11:201066300:G:A p.(Ser891=) NC_000001.11:201066300:G:A p.(Ser891=) NC_000001.11:201066300:G:A Identity +NM_000069.3:c.984G>T NP_000060.2:p.Leu328= NC_000001.11:201087845:C:A p.(Leu328=) NC_000001.11:201087845:C:A p.(Leu328=) NC_000001.11:201087845:C:A Identity +NM_000081.4:c.7857T>C NP_000072.2:p.His2619= NC_000001.11:235746450:A:G p.(His2619=) NC_000001.11:235746450:A:G p.(His2619=) NC_000001.11:235746450:A:G Identity +NM_000094.4:c.933C>T NP_000085.1:p.Tyr311= NC_000003.12:48592612:G:A p.(Tyr311=) NC_000003.12:48592612:G:A p.(Tyr311=) NC_000003.12:48592612:G:A Identity +NM_000142.5:c.882T>C NP_000133.1:p.Asn294= NC_000004.12:1801976:T:C p.(Asn294=) NC_000004.12:1801976:T:C p.(Asn294=) NC_000004.12:1801976:T:C Identity +NM_000168.6:c.2184C>T NP_000159.3:p.Leu728= NC_000007.14:41967842:G:A p.(Leu728=) NC_000007.14:41967842:G:A p.(Leu728=) NC_000007.14:41967842:G:A Identity +NM_000228.3:c.384C>T NP_000219.2:p.Pro128= NC_000001.11:209634626:G:A p.(Pro128=) NC_000001.11:209634626:G:A p.(Pro128=) NC_000001.11:209634626:G:A Identity +NM_000231.3:c.102C>T NP_000222.2:p.Arg34= NC_000013.11:23203795:C:T p.(Arg34=) NC_000013.11:23203795:C:T p.(Arg34=) NC_000013.11:23203795:C:T Identity +NM_000287.4:c.804C>T NP_000278.3:p.Asp268= NC_000006.12:42978346:G:A p.(Asp268=) NC_000006.12:42978346:G:A p.(Asp268=) NC_000006.12:42978346:G:A Identity +NM_000339.3:c.1392C>A NP_000330.3:p.Ala464= NC_000016.10:56879597:C:A p.(Ala464=) NC_000016.10:56879597:C:A p.(Ala464=) NC_000016.10:56879597:C:A Identity +NM_000373.4:c.1320C>T NP_000364.1:p.Gly440= NC_000003.12:124743960:C:T p.(Gly440=) NC_000003.12:124743960:C:T p.(Gly440=) NC_000003.12:124743960:C:T Identity +NM_000429.3:c.882T>C NP_000420.1:p.Ala294= NC_000010.11:80275085:A:G p.(Ala294=) NC_000010.11:80275085:A:G p.(Ala294=) NC_000010.11:80275085:A:G Identity +LRG_1249t1:c.2595C>T LRG_1249p1:p.Arg865= NC_000010.11:104041494:G:A ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +LRG_1249t1:c.3261T>C LRG_1249p1:p.Ile1087= NC_000010.11:104037060:A:G ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_000500.9:c.1473G>A NP_000491.4:p.Pro491= NC_000006.12:32041118:G:A p.(Pro491=) NC_000006.12:32041118:G:A p.(Pro491=) NC_000006.12:32041118:G:A Identity +NM_000507.4:c.960A>G NP_000498.2:p.Gly320= NC_000009.12:94603437:T:C p.(Gly320=) NC_000009.12:94603437:T:C p.(Gly320=) NC_000009.12:94603437:T:C Identity +NM_000531.6:c.429T>C NP_000522.3:p.Tyr143= NC_000023.11:38401316:T:C p.(Tyr143=) NC_000023.11:38401316:T:C p.(Tyr143=) NC_000023.11:38401316:T:C Identity +NM_000540.3:c.5046C>T NP_000531.2:p.His1682= NC_000019.10:38485700:C:T p.(His1682=) NC_000019.10:38485700:C:T p.(His1682=) NC_000019.10:38485700:C:T Identity +NM_000540.3:c.9771C>T NP_000531.2:p.Ala3257= NC_000019.10:38517443:C:T p.(Ala3257=) NC_000019.10:38517443:C:T p.(Ala3257=) NC_000019.10:38517443:C:T Identity +NM_000552.5:c.5667C>T NP_000543.3:p.Pro1889= NC_000012.12:6011791:G:A p.(Pro1889=) NC_000012.12:6011791:G:A p.(Pro1889=) NC_000012.12:6011791:G:A Identity +NM_000028.3:c.207T>C NP_000019.2:p.Asn69= NC_000001.11:99861626:T:C p.(Asn69=) NC_000001.11:99861626:T:C p.(Asn69=) NC_000001.11:99861626:T:C Identity +NM_000028.3:c.4290T>C NP_000019.2:p.Asn1430= NC_000001.11:99916439:T:C p.(Asn1430=) NC_000001.11:99916439:T:C p.(Asn1430=) NC_000001.11:99916439:T:C Identity +LRG_144t1:c.105C>A LRG_144p1:p.Ile35= NC_000001.11:36475632:G:T ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_001002295.2:c.1257G>A NP_001002295.1:p.Thr419= NC_000010.11:8073944:G:A p.(Thr419=) NC_000010.11:8073944:G:A p.(Thr419=) NC_000010.11:8073944:G:A Identity +NM_001024858.4:c.4860T>C NP_001020029.1:p.Ile1620= NC_000014.9:64774509:A:G p.(Ile1620=) NC_000014.9:64774509:A:G p.(Ile1620=) NC_000014.9:64774509:A:G Identity +NM_001040167.2:c.972G>A NP_001035257.1:p.Ser324= NC_000007.14:2526393:G:A p.(Ser324=) NC_000007.14:2526393:G:A p.(Ser324=) NC_000007.14:2526393:G:A Identity +NM_001106.4:c.333A>G NP_001097.2:p.Glu111= NC_000003.12:38477932:A:G p.(Glu111=) NC_000003.12:38477932:A:G p.(Glu111=) NC_000003.12:38477932:A:G Identity +LRG_1212t1:c.2682G>A LRG_1212p1:p.Val894= NC_000001.11:154589448:C:T ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_001113378.2:c.3906T>C NP_001106849.1:p.Gly1302= NC_000015.10:89315370:T:C p.(Gly1302=) NC_000015.10:89315370:T:C p.(Gly1302=) NC_000015.10:89315370:T:C Identity +NM_001130010.3:c.423T>C NP_001123482.1:p.Tyr141= NC_000015.10:36691760:T:C p.(Tyr141=) NC_000015.10:36691760:T:C p.(Tyr141=) NC_000015.10:36691760:T:C Identity +NM_001145661.2:c.15C>G NP_001139133.1:p.Pro5= NC_000003.12:128487016:G:C p.(Pro5=) NC_000003.12:128487016:G:C p.(Pro5=) NC_000003.12:128487016:G:C Identity +NM_000461.5:c.1251T>C NP_000452.2:p.Phe417= NC_000003.12:24123018:A:G p.(Phe417=) NC_000003.12:24123018:A:G p.(Phe417=) NC_000003.12:24123018:A:G Identity +NM_001267578.2:c.579G>A NP_001254507.1:p.Arg193= NC_000001.11:179889334:G:A p.(Arg193=) NC_000001.11:179889334:G:A p.(Arg193=) NC_000001.11:179889334:G:A Identity +NM_001271.4:c.3564C>T NP_001262.3:p.Tyr1188= NC_000015.10:92992966:C:T p.(Tyr1188=) NC_000015.10:92992966:C:T p.(Tyr1188=) NC_000015.10:92992966:C:T Identity +NM_001361.5:c.294C>T NP_001352.2:p.Asp98= NC_000016.10:72014531:C:T p.(Asp98=) NC_000016.10:72014531:C:T p.(Asp98=) NC_000016.10:72014531:C:T Identity +NM_001113347.2:c.1119C>T NP_001106818.1:p.Thr373= NC_000001.11:21247228:G:A p.(Thr373=) NC_000001.11:21247228:G:A p.(Thr373=) NC_000001.11:21247228:G:A Identity +NM_001113347.2:c.1510C>T NP_001106818.1:p.Leu504= NC_000001.11:21235869:G:A p.(Leu504=) NC_000001.11:21235869:G:A p.(Leu504=) NC_000001.11:21235869:G:A Identity +NM_001844.5:c.2949C>T NP_001835.3:p.Val983= NC_000012.12:47978344:G:A p.(Val983=) NC_000012.12:47978344:G:A p.(Val983=) NC_000012.12:47978344:G:A Identity +NM_001999.4:c.1410C>A NP_001990.2:p.Gly470= NC_000005.10:128393189:G:T p.(Gly470=) NC_000005.10:128393189:G:T p.(Gly470=) NC_000005.10:128393189:G:T Identity +NM_001999.4:c.6990G>A NP_001990.2:p.Arg2330= NC_000005.10:128286739:C:T p.(Arg2330=) NC_000005.10:128286739:C:T p.(Arg2330=) NC_000005.10:128286739:C:T Identity +NM_002180.3:c.2259C>T NP_002171.2:p.His753= NC_000011.10:68936738:C:T p.(His753=) NC_000011.10:68936738:C:T p.(His753=) NC_000011.10:68936738:C:T Identity +NM_001174146.2:c.1119C>T NP_001167617.1:p.Ser373= NC_000009.12:126696348:C:T p.(Ser373=) NC_000009.12:126696348:C:T p.(Ser373=) NC_000009.12:126696348:C:T Identity +NM_002473.6:c.5136C>T NP_002464.1:p.Asn1712= NC_000022.11:36285878:G:A p.(Asn1712=) NC_000022.11:36285878:G:A p.(Asn1712=) NC_000022.11:36285878:G:A Identity +NM_001163940.2:c.1914C>T NP_001157412.1:p.Thr638= NC_000014.9:50910055:G:A p.(Thr638=) NC_000014.9:50910055:G:A p.(Thr638=) NC_000014.9:50910055:G:A Identity +LRG_1199t1:c.3084A>G LRG_1199p1:p.Ala1028= NC_000002.12:168932505:T:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_004260.4:c.3249C>T NP_004251.4:p.Pro1083= NC_000008.11:144512054:G:A p.(Pro1083=) NC_000008.11:144512054:G:A p.(Pro1083=) NC_000008.11:144512054:G:A Identity +NM_001126336.3:c.1659C>T NP_001119808.1:p.Val553= NC_000005.10:83579980:C:T p.(Val553=) NC_000005.10:83579980:C:T p.(Val553=) NC_000005.10:83579980:C:T Identity +NM_004608.4:c.1227G>A NP_004599.2:p.Pro409= NC_000016.10:30086308:C:T p.(Pro409=) NC_000016.10:30086308:C:T p.(Pro409=) NC_000016.10:30086308:C:T Identity +NM_001170634.1:c.153C>T NP_001164105.1:p.Gly51= NC_000016.10:31182626:C:T p.(Gly51=) NC_000016.10:31182626:C:T p.(Gly51=) NC_000016.10:31182626:C:T Identity +NM_001127215.3:c.648A>G NP_001120687.1:p.Ala216= NC_000001.11:92480738:T:C p.(Ala216=) NC_000001.11:92480738:T:C p.(Ala216=) NC_000001.11:92480738:T:C Identity +NM_012120.3:c.696C>T NP_036252.1:p.Ser232= NC_000006.12:47574217:C:T p.(Ser232=) NC_000006.12:47574217:C:T p.(Ser232=) NC_000006.12:47574217:C:T Identity +NM_012186.3:c.423G>A NP_036318.1:p.Lys141= NC_000001.11:47416737:G:A p.(Lys141=) NC_000001.11:47416737:G:A p.(Lys141=) NC_000001.11:47416737:G:A Identity +NM_012293.3:c.2661C>T NP_036425.1:p.Ser887= NC_000002.12:1649118:G:A p.(Ser887=) NC_000002.12:1649118:G:A p.(Ser887=) NC_000002.12:1649118:G:A Identity +LRG_1242t1:c.303C>T LRG_1242p1:p.Asn101= NC_000004.12:87612488:C:T ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found ERR:AlignmentMapper(tx_ac=LRG_1242t1, alt_ac=LRG_1242t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1242t1, alt_ac=LRG_1242t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1242t1 not found +NM_001302884.2:c.1779C>G NP_001289813.1:p.Leu593= NC_000009.12:97473547:C:G p.(Leu593=) NC_000009.12:97473547:C:G p.(Leu593=) NC_000009.12:97473547:C:G Identity +NM_001297575.2:c.288C>T NP_001284504.1:p.Ser96= NC_000001.11:179564779:G:A p.(Ser96=) NC_000001.11:179564779:G:A p.(Ser96=) NC_000001.11:179564779:G:A Identity +NM_001168370.2:c.4089G>A NP_001161842.2:p.Leu1363= NC_000006.12:43040559:C:T p.(Leu1363=) NC_000006.12:43040559:C:T p.(Leu1363=) NC_000006.12:43040559:C:T Identity +NM_001271933.2:c.1491T>C NP_001258862.1:p.Pro497= NC_000011.10:117381772:T:C p.(Pro497=) NC_000011.10:117381772:T:C p.(Pro497=) NC_000011.10:117381772:T:C Identity +NM_001365116.2:c.4809C>T NP_001352045.1:p.Ser1603= NC_000003.12:47002047:C:T p.(Ser1603=) NC_000003.12:47002047:C:T p.(Ser1603=) NC_000003.12:47002047:C:T Identity +NM_015295.3:c.399T>C NP_056110.2:p.Tyr133= NC_000018.10:2667005:T:C p.(Tyr133=) NC_000018.10:2667005:T:C p.(Tyr133=) NC_000018.10:2667005:T:C Identity +NM_016616.5:c.723A>G NP_057700.3:p.Glu241= NC_000007.14:37867802:A:G p.(Glu241=) NC_000007.14:37867802:A:G p.(Glu241=) NC_000007.14:37867802:A:G Identity +NM_001083908.2:c.1269G>C NP_001077377.1:p.Pro423= NC_000014.9:49633880:C:G p.(Pro423=) NC_000014.9:49633880:C:G p.(Pro423=) NC_000014.9:49633880:C:G Identity +NM_001184985.2:c.258T>C NP_001171914.1:p.Cys86= NC_000012.12:753822:T:C p.(Cys86=) NC_000012.12:753822:T:C p.(Cys86=) NC_000012.12:753822:T:C Identity +NM_001142929.2:c.1251C>T NP_001136401.2:p.Ile417= NC_000010.11:49651976:C:T p.(Ile417=) NC_000010.11:49651976:C:T p.(Ile417=) NC_000010.11:49651976:C:T Identity +NM_021922.3:c.1071C>T NP_068741.1:p.Leu357= NC_000006.12:35458397:C:T p.(Leu357=) NC_000006.12:35458397:C:T p.(Leu357=) NC_000006.12:35458397:C:T Identity +NM_021942.6:c.2370C>T NP_068761.4:p.Thr790= NC_000004.12:183693720:C:T p.(Thr790=) NC_000004.12:183693720:C:T p.(Thr790=) NC_000004.12:183693720:C:T Identity +NM_021957.4:c.1701G>A NP_068776.2:p.Leu567= NC_000012.12:21540517:C:T p.(Leu567=) NC_000012.12:21540517:C:T p.(Leu567=) NC_000012.12:21540517:C:T Identity +NM_001363147.1:c.1464A>G NP_001350076.1:p.Val488= NC_000005.10:71656745:A:G p.(Val488=) NC_000005.10:71656745:A:G p.(Val488=) NC_000005.10:71656745:A:G Identity +NM_001031714.4:c.42G>A NP_001026884.3:p.Leu14= NC_000014.9:104701406:G:A p.(Leu14=) NC_000014.9:104701406:G:A p.(Leu14=) NC_000014.9:104701406:G:A Identity +NM_000378.6:c.1023A>G NP_000369.4:p.Gln341= NC_000011.10:32399986:T:C p.(Gln341=) NC_000011.10:32399986:T:C p.(Gln341=) NC_000011.10:32399986:T:C Identity +NM_025074.7:c.6924C>T NP_079350.5:p.Val2308= NC_000004.12:78464477:C:T p.(Val2308=) NC_000004.12:78464477:C:T p.(Val2308=) NC_000004.12:78464477:C:T Identity +NM_001317924.2:c.2955C>T NP_001304853.1:p.Ser985= NC_000004.12:39270051:C:T p.(Ser985=) NC_000004.12:39270051:C:T p.(Ser985=) NC_000004.12:39270051:C:T Identity +NM_001174089.2:c.1341G>A NP_001167560.1:p.Thr447= NC_000020.11:3230588:C:T p.(Thr447=) NC_000020.11:3230588:C:T p.(Thr447=) NC_000020.11:3230588:C:T Identity +NM_001321309.2:c.1140C>T NP_001308238.1:p.Tyr380= NC_000003.12:123722263:G:A p.(Tyr380=) NC_000003.12:123722263:G:A p.(Tyr380=) NC_000003.12:123722263:G:A Identity +NM_133497.4:c.915G>A NP_598004.1:p.Val305= NC_000009.12:2718653:G:A p.(Val305=) NC_000009.12:2718653:G:A p.(Val305=) NC_000009.12:2718653:G:A Identity +NM_001145472.3:c.756C>T NP_001138944.1:p.Ile252= NC_000018.10:46538161:G:A p.(Ile252=) NC_000018.10:46538161:G:A p.(Ile252=) NC_000018.10:46538161:G:A Identity +NM_145020.5:c.57A>G NP_659457.2:p.Lys19= NC_000018.10:50266347:T:C p.(Lys19=) NC_000018.10:50266347:T:C p.(Lys19=) NC_000018.10:50266347:T:C Identity +NM_017890.5:c.11862C>T NP_060360.3:p.Asn3954= NC_000008.11:99875458:C:T p.(Asn3954=) NC_000008.11:99875458:C:T p.(Asn3954=) NC_000008.11:99875458:C:T Identity +NM_001306090.2:c.249A>G NP_001293019.1:p.Ser83= NC_000004.12:5719321:A:G p.(Ser83=) NC_000004.12:5719321:A:G p.(Ser83=) NC_000004.12:5719321:A:G Identity +NM_173551.5:c.1767G>A NP_775822.3:p.Ala589= NC_000009.12:98773930:C:T p.(Ala589=) NC_000009.12:98773930:C:T p.(Ala589=) NC_000009.12:98773930:C:T Identity +NM_173551.5:c.330C>T NP_775822.3:p.Tyr110= NC_000009.12:98796161:G:A p.(Tyr110=) NC_000009.12:98796161:G:A p.(Tyr110=) NC_000009.12:98796161:G:A Identity +NM_001407240.1:c.876C>T NP_001394169.1:p.Arg292= NC_000001.11:55052744:C:T p.(Arg292=) NC_000001.11:55052744:C:T p.(Arg292=) NC_000001.11:55052744:C:T Identity +NM_001306193.2:c.1488T>C NP_001293122.1:p.Ile496= NC_000023.11:132078483:A:G p.(Ile496=) NC_000023.11:132078483:A:G p.(Ile496=) NC_000023.11:132078483:A:G Identity +NM_001013406.2:c.1836A>G NP_001013424.1:p.Val612= NC_000007.14:92213239:T:C p.(Val612=) NC_000007.14:92213239:T:C p.(Val612=) NC_000007.14:92213239:T:C Identity +NM_000360.4:c.186G>A NP_000351.2:p.Ser62= NC_000011.10:2169775:C:T p.(Ser62=) NC_000011.10:2169775:C:T p.(Ser62=) NC_000011.10:2169775:C:T Identity +NM_001999.4:c.8589C>T NP_001990.2:p.Leu2863= NC_000005.10:128259604:G:A p.(Leu2863=) NC_000005.10:128259604:G:A p.(Leu2863=) NC_000005.10:128259604:G:A Identity +NM_000090.4:c.1476A>C NP_000081.2:p.Gly492= NC_000002.12:188995065:A:C p.(Gly492=) NC_000002.12:188995065:A:C p.(Gly492=) NC_000002.12:188995065:A:C Identity +NM_000335.5:c.1902G>A NP_000326.2:p.Ser634= NC_000003.12:38599038:C:T p.(Ser634=) NC_000003.12:38599038:C:T p.(Ser634=) NC_000003.12:38599038:C:T Identity +LRG_1135t2:c.1254C>T LRG_1135p2:p.Ser418= NC_000010.11:52271474:C:T ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found +NM_001256850.1:c.90441T>C NP_001243779.1:p.Tyr30147= NC_000002.12:178545871:A:G p.(Tyr30147=) NC_000002.12:178545871:A:G p.(Tyr30147=) NC_000002.12:178545871:A:G Identity +NM_001999.4:c.1194C>T NP_001990.2:p.Ile398= NC_000005.10:128395158:G:A p.(Ile398=) NC_000005.10:128395158:G:A p.(Ile398=) NC_000005.10:128395158:G:A Identity +NM_000218.3:c.1716G>A NP_000209.2:p.Leu572= NC_000011.10:2777015:G:A p.(Leu572=) NC_000011.10:2777015:G:A p.(Leu572=) NC_000011.10:2777015:G:A Identity +NM_001999.4:c.6903G>T NP_001990.2:p.Gly2301= NC_000005.10:128286826:C:A p.(Gly2301=) NC_000005.10:128286826:C:A p.(Gly2301=) NC_000005.10:128286826:C:A Identity +NM_001256850.1:c.98517C>T NP_001243779.1:p.Thr32839= NC_000002.12:178533174:G:A p.(Thr32839=) NC_000002.12:178533174:G:A p.(Thr32839=) NC_000002.12:178533174:G:A Identity +NM_000059.4:c.1376del NP_000050.3:p.Pro458_Leu459insTer NC_000013.11:32332852:TT:T p.(Leu459Ter) NC_000013.11:32332852:TT:T p.(Leu459Ter) NC_000013.11:32332853:T: Analogous +NM_000059.4:c.2399dup NP_000050.3:p.Gly800_Asn801insTer NC_000013.11:32336752:GG:GGG p.(Asn801Ter) NC_000013.11:32336752:GG:GGG p.(Asn801Ter) ERR:SPDI Analogous +NM_000059.4:c.4306_4307del NP_000050.3:p.Asn1435_Ile1436insTer NC_000013.11:32338658:ATAT:AT p.(Ile1436Ter) NC_000013.11:32338658:ATAT:AT p.(Ile1436Ter) NC_000013.11:32338660:AT: Analogous +LRG_293t1:c.4638_4640delinsGG LRG_293p1:p.Phe1546fs NC_000013.11:32338992:TGA:GG ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_293t1 not found +NM_000059.4:c.474A>G NP_000050.3:p.Ser158= NC_000013.11:32326148:A:G p.(Ser158=) NC_000013.11:32326148:A:G p.(Ser158=) NC_000013.11:32326148:A:G Identity +NM_001130455.2:c.5190C>A NP_001123927.1:p.Ser1730= NC_000002.12:71665290:C:A p.(Ser1730=) NC_000002.12:71665290:C:A p.(Ser1730=) NC_000002.12:71665290:C:A Identity +NM_000445.5:c.4668C>T NP_000436.2:p.Arg1556= NC_000008.11:143925341:G:A p.(Arg1556=) NC_000008.11:143925341:G:A p.(Arg1556=) NC_000008.11:143925341:G:A Identity +NM_025074.7:c.11724T>C NP_079350.5:p.Ser3908= NC_000004.12:78540808:T:C p.(Ser3908=) NC_000004.12:78540808:T:C p.(Ser3908=) NC_000004.12:78540808:T:C Identity +NM_001301031.1:c.1131C>T NP_001287960.1:p.Thr377= NC_000015.10:65625210:C:T p.(Thr377=) NC_000015.10:65625210:C:T p.(Thr377=) NC_000015.10:65625210:C:T Identity +NM_000445.5:c.2742C>T NP_000436.2:p.His914= NC_000008.11:143930013:G:A p.(His914=) NC_000008.11:143930013:G:A p.(His914=) NC_000008.11:143930013:G:A Identity +NM_000445.5:c.10383C>A NP_000436.2:p.Thr3461= NC_000008.11:143919518:G:T p.(Thr3461=) NC_000008.11:143919518:G:T p.(Thr3461=) NC_000008.11:143919518:G:T Identity +NM_000070.3:c.2310C>T NP_000061.1:p.Tyr770= NC_000015.10:42410929:C:T p.(Tyr770=) NC_000015.10:42410929:C:T p.(Tyr770=) NC_000015.10:42410929:C:T Identity +NM_000445.5:c.10821C>T NP_000436.2:p.His3607= NC_000008.11:143919080:G:A p.(His3607=) NC_000008.11:143919080:G:A p.(His3607=) NC_000008.11:143919080:G:A Identity +NM_015180.6:c.3921A>G NP_055995.4:p.Gln1307= NC_000014.9:64002853:A:G p.(Gln1307=) NC_000014.9:64002853:A:G p.(Gln1307=) NC_000014.9:64002853:A:G Identity +NM_003482.4:c.7629G>A NP_003473.3:p.Gly2543= NC_000012.12:49040140:C:T p.(Gly2543=) NC_000012.12:49040140:C:T p.(Gly2543=) NC_000012.12:49040140:C:T Identity +NM_030665.4:c.3318C>A NP_109590.3:p.Ala1106= NC_000017.11:17796265:C:A p.(Ala1106=) NC_000017.11:17796265:C:A p.(Ala1106=) NC_000017.11:17796265:C:A Identity +NM_000445.5:c.10860G>A NP_000436.2:p.Ser3620= NC_000008.11:143919041:C:T p.(Ser3620=) NC_000008.11:143919041:C:T p.(Ser3620=) NC_000008.11:143919041:C:T Identity +LRG_1199t1:c.3435A>G LRG_1199p1:p.Lys1145= NC_000002.12:168927338:T:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_080605.4:c.834G>A NP_542172.2:p.Thr278= NC_000001.11:1233111:G:A p.(Thr278=) NC_000001.11:1233111:G:A p.(Thr278=) NC_000001.11:1233111:G:A Identity +NM_004369.4:c.1263C>T NP_004360.2:p.Gly421= NC_000002.12:237387630:G:A p.(Gly421=) NC_000002.12:237387630:G:A p.(Gly421=) NC_000002.12:237387630:G:A Identity +NM_001077182.3:c.357C>T NP_001070650.1:p.Ser119= NC_000017.11:81528887:C:T p.(Ser119=) NC_000017.11:81528887:C:T p.(Ser119=) NC_000017.11:81528887:C:T Identity +NM_000445.5:c.7164G>A NP_000436.2:p.Thr2388= NC_000008.11:143922845:C:T p.(Thr2388=) NC_000008.11:143922845:C:T p.(Thr2388=) NC_000008.11:143922845:C:T Identity +NM_000445.5:c.1959T>A NP_000436.2:p.Thr653= NC_000008.11:143932498:A:T p.(Thr653=) NC_000008.11:143932498:A:T p.(Thr653=) NC_000008.11:143932498:A:T Identity +NM_001168370.2:c.3930C>T NP_001161842.2:p.Gly1310= NC_000006.12:43040718:G:A p.(Gly1310=) NC_000006.12:43040718:G:A p.(Gly1310=) NC_000006.12:43040718:G:A Identity +NM_002180.3:c.2295C>T NP_002171.2:p.His765= NC_000011.10:68936774:C:T p.(His765=) NC_000011.10:68936774:C:T p.(His765=) NC_000011.10:68936774:C:T Identity +NM_000360.4:c.645C>T NP_000351.2:p.His215= NC_000011.10:2167484:G:A p.(His215=) NC_000011.10:2167484:G:A p.(His215=) NC_000011.10:2167484:G:A Identity +NM_000152.5:c.861C>T NP_000143.2:p.Pro287= NC_000017.11:80107801:C:T p.(Pro287=) NC_000017.11:80107801:C:T p.(Pro287=) NC_000017.11:80107801:C:T Identity +NM_001130455.2:c.429C>T NP_001123927.1:p.Ser143= NC_000002.12:71511889:C:T p.(Ser143=) NC_000002.12:71511889:C:T p.(Ser143=) NC_000002.12:71511889:C:T Identity +NM_000426.4:c.6426T>C NP_000417.3:p.Asn2142= NC_000006.12:129445817:T:C p.(Asn2142=) NC_000006.12:129445817:T:C p.(Asn2142=) NC_000006.12:129445817:T:C Identity +NM_001927.4:c.822C>T NP_001918.3:p.Leu274= NC_000002.12:219420580:C:T p.(Leu274=) NC_000002.12:219420580:C:T p.(Leu274=) NC_000002.12:219420580:C:T Identity +NM_138694.4:c.2244G>A NP_619639.3:p.Ala748= NC_000006.12:52050191:C:T p.(Ala748=) NC_000006.12:52050191:C:T p.(Ala748=) NC_000006.12:52050191:C:T Identity +NM_001018064.3:c.2065C>T NP_001018074.1:p.Leu689= NC_000009.12:84955457:C:T p.(Leu689=) NC_000009.12:84955457:C:T p.(Leu689=) NC_000009.12:84955457:C:T Identity +NM_000337.6:c.768G>A NP_000328.2:p.Thr256= NC_000005.10:156759284:G:A p.(Thr256=) NC_000005.10:156759284:G:A p.(Thr256=) NC_000005.10:156759284:G:A Identity +NM_001172574.2:c.1752A>G NP_001166045.2:p.Pro584= NC_000008.11:6445473:A:G p.(Pro584=) NC_000008.11:6445473:A:G p.(Pro584=) NC_000008.11:6445473:A:G Identity +NM_018190.4:c.1062_1063del NP_060660.2:p.Tyr354_Lys355delinsTer NC_000004.12:121845670:TATA:TA p.(Tyr354Ter) NC_000004.12:121845670:TATA:TA p.(Tyr354Ter) NC_000004.12:121845670:TA: Analogous +NM_001173467.3:c.1128T>C NP_001166938.1:p.His376= NC_000012.12:53328313:A:G p.(His376=) NC_000012.12:53328313:A:G p.(His376=) NC_000012.12:53328313:A:G Identity +NM_001166280.2:c.1683C>T NP_001159752.1:p.Val561= NC_000009.12:110800318:C:T p.(Val561=) NC_000009.12:110800318:C:T p.(Val561=) NC_000009.12:110800318:C:T Identity +NM_001367624.2:c.11277C>T NP_001354553.1:p.Ser3759= NC_000016.10:88438746:C:T p.(Ser3759=) NC_000016.10:88438746:C:T p.(Ser3759=) NC_000016.10:88438746:C:T Identity +NM_001128227.3:c.1965G>A NP_001121699.1:p.Ala655= NC_000009.12:36218243:C:T p.(Ala655=) NC_000009.12:36218243:C:T p.(Ala655=) NC_000009.12:36218243:C:T Identity +NM_000445.5:c.4473C>T NP_000436.2:p.Thr1491= NC_000008.11:143925536:G:A p.(Thr1491=) NC_000008.11:143925536:G:A p.(Thr1491=) NC_000008.11:143925536:G:A Identity +NM_000068.4:c.1233G>A NP_000059.3:p.Gly411= NC_000019.10:13332890:C:T p.(Gly411=) NC_000019.10:13332890:C:T p.(Gly411=) NC_000019.10:13332890:C:T Identity +NM_001081955.3:c.69C>T NP_001075424.1:p.Leu23= NC_000017.11:65153432:C:T p.(Leu23=) NC_000017.11:65153432:C:T p.(Leu23=) NC_000017.11:65153432:C:T Identity +NM_001039141.3:c.3774C>T NP_001034230.1:p.Pro1258= NC_000022.11:37726329:C:T p.(Pro1258=) NC_000022.11:37726329:C:T p.(Pro1258=) NC_000022.11:37726329:C:T Identity +NM_001317924.2:c.2235G>A NP_001304853.1:p.Lys745= NC_000004.12:39245437:G:A p.(Lys745=) NC_000004.12:39245437:G:A p.(Lys745=) NC_000004.12:39245437:G:A Identity +NM_020223.4:c.1152C>T NP_064608.2:p.Ile384= NC_000007.14:255927:C:T p.(Ile384=) NC_000007.14:255927:C:T p.(Ile384=) NC_000007.14:255927:C:T Identity +NM_001114331.3:c.1734C>T NP_001107803.1:p.Tyr578= NC_000016.10:1448757:G:A p.(Tyr578=) NC_000016.10:1448757:G:A p.(Tyr578=) NC_000016.10:1448757:G:A Identity +NM_001202504.1:c.1104G>A NP_001189433.1:p.Pro368= NC_000018.10:79714920:G:A p.(Pro368=) NC_000018.10:79714920:G:A p.(Pro368=) NC_000018.10:79714920:G:A Identity +NM_001168370.2:c.2568C>T NP_001161842.2:p.Leu856= NC_000006.12:43046526:G:A p.(Leu856=) NC_000006.12:43046526:G:A p.(Leu856=) NC_000006.12:43046526:G:A Identity +NM_001282902.3:c.1716C>G NP_001269831.1:p.Pro572= NC_000008.11:115604225:G:C p.(Pro572=) NC_000008.11:115604225:G:C p.(Pro572=) NC_000008.11:115604225:G:C Identity +NM_001039141.3:c.3429C>T NP_001034230.1:p.Ser1143= NC_000022.11:37725984:C:T p.(Ser1143=) NC_000022.11:37725984:C:T p.(Ser1143=) NC_000022.11:37725984:C:T Identity +NM_001375440.1:c.375C>G NP_001362369.1:p.Leu125= NC_000014.9:74480276:G:C p.(Leu125=) NC_000014.9:74480276:G:C p.(Leu125=) NC_000014.9:74480276:G:C Identity +NM_015629.4:c.540G>A NP_056444.3:p.Ser180= NC_000019.10:54123760:G:A p.(Ser180=) NC_000019.10:54123760:G:A p.(Ser180=) NC_000019.10:54123760:G:A Identity +NM_020436.5:c.2349A>G NP_065169.1:p.Thr783= NC_000020.11:51790133:T:C p.(Thr783=) NC_000020.11:51790133:T:C p.(Thr783=) NC_000020.11:51790133:T:C Identity +NM_001166280.2:c.1245_1246insACC NP_001159752.1:p.Met415_Ser416insThr NC_000009.12:110784933::ACC p.(Met415_Ser416insThr) NC_000009.12:110784932:G:ACC p.(Met415_Ser416insThr) NC_000009.12:110784933:GT:ACC Identity +NM_033071.5:c.1518C>T NP_149062.2:p.His506= NC_000006.12:152471731:G:A p.(His506=) NC_000006.12:152471731:G:A p.(His506=) NC_000006.12:152471731:G:A Identity +NM_001372305.1:c.1413G>A NP_001359234.1:p.Ser471= NC_000019.10:50323311:C:T p.(Ser471=) NC_000019.10:50323311:C:T p.(Ser471=) NC_000019.10:50323311:C:T Identity +NM_000070.3:c.2331C>T NP_000061.1:p.Ile777= NC_000015.10:42410950:C:T p.(Ile777=) NC_000015.10:42410950:C:T p.(Ile777=) NC_000015.10:42410950:C:T Identity +NM_001101417.4:c.798A>G NP_001094887.1:p.Thr266= NC_000007.14:16258997:T:C p.(Thr266=) NC_000007.14:16258997:T:C p.(Thr266=) NC_000007.14:16258997:T:C Identity +NM_004369.4:c.7575G>A NP_004360.2:p.Gln2525= NC_000002.12:237344442:C:T p.(Gln2525=) NC_000002.12:237344442:C:T p.(Gln2525=) NC_000002.12:237344442:C:T Identity +NM_014141.6:c.387A>G NP_054860.1:p.Gln129= NC_000007.14:146839888:A:G p.(Gln129=) NC_000007.14:146839888:A:G p.(Gln129=) NC_000007.14:146839888:A:G Identity +NM_033071.5:c.12180C>A NP_149062.2:p.Gly4060= NC_000006.12:152336975:G:T p.(Gly4060=) NC_000006.12:152336975:G:T p.(Gly4060=) NC_000006.12:152336975:G:T Identity +NM_001159508.3:c.366G>A NP_001152980.2:p.Lys122= NC_000015.10:40410796:G:A p.(Lys122=) NC_000015.10:40410796:G:A p.(Lys122=) NC_000015.10:40410796:G:A Identity +NM_001849.4:c.2244C>T NP_001840.3:p.Cys748= NC_000021.9:46126058:C:T p.(Cys748=) NC_000021.9:46126058:C:T p.(Cys748=) NC_000021.9:46126058:C:T Identity +NM_001330437.2:c.1752T>C NP_001317366.1:p.Tyr584= NC_000012.12:112504721:T:C p.(Tyr584=) NC_000012.12:112504721:T:C p.(Tyr584=) NC_000012.12:112504721:T:C Identity +NM_000495.5:c.2295A>G NP_000486.1:p.Pro765= NC_000023.11:108606791:A:G p.(Pro765=) NC_000023.11:108606791:A:G p.(Pro765=) NC_000023.11:108606791:A:G Identity +LRG_1199t1:c.156G>A LRG_1199p1:p.Arg52= NC_000002.12:169013504:C:T ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_000543.5:c.762G>A NP_000534.3:p.Leu254= NC_000011.10:6391826:G:A p.(Leu254=) NC_000011.10:6391826:G:A p.(Leu254=) NC_000011.10:6391826:G:A Identity +NM_004369.4:c.8865C>T NP_004360.2:p.Pro2955= NC_000002.12:237336234:G:A p.(Pro2955=) NC_000002.12:237336234:G:A p.(Pro2955=) NC_000002.12:237336234:G:A Identity +NM_001376472.1:c.93C>T NP_001363401.1:p.Asp31= NC_000022.11:50084809:G:A p.(Asp31=) NC_000022.11:50084809:G:A p.(Asp31=) NC_000022.11:50084809:G:A Identity +NM_002473.6:c.4818G>A NP_002464.1:p.Ser1606= NC_000022.11:36288365:C:T p.(Ser1606=) NC_000022.11:36288365:C:T p.(Ser1606=) NC_000022.11:36288365:C:T Identity +NM_001256850.1:c.86826C>T NP_001243779.1:p.Ser28942= NC_000002.12:178550088:G:A p.(Ser28942=) NC_000002.12:178550088:G:A p.(Ser28942=) NC_000002.12:178550088:G:A Identity +NM_001161683.2:c.684G>A NP_001155155.1:p.Ala228= NC_000016.10:21700967:G:A p.(Ala228=) NC_000016.10:21700967:G:A p.(Ala228=) NC_000016.10:21700967:G:A Identity +NM_001848.3:c.2349G>T NP_001839.2:p.Arg783= NC_000021.9:46002624:G:T p.(Arg783=) NC_000021.9:46002624:G:T p.(Arg783=) NC_000021.9:46002624:G:T Identity +NM_001127487.2:c.5319G>A NP_001120959.1:p.Ser1773= NC_000007.14:128850821:G:A p.(Ser1773=) NC_000007.14:128850821:G:A p.(Ser1773=) NC_000007.14:128850821:G:A Identity +NM_015346.4:c.2799C>T NP_056161.2:p.Leu933= NC_000014.9:67789554:G:A p.(Leu933=) NC_000014.9:67789554:G:A p.(Leu933=) NC_000014.9:67789554:G:A Identity +NM_001190709.2:c.894A>T NP_001177638.1:p.Ile298= NC_000001.11:103022975:T:A p.(Ile298=) NC_000001.11:103022975:T:A p.(Ile298=) NC_000001.11:103022975:T:A Identity +NM_001365951.3:c.2874C>T NP_001352880.1:p.Asp958= NC_000001.11:10326308:C:T p.(Asp958=) NC_000001.11:10326308:C:T p.(Asp958=) NC_000001.11:10326308:C:T Identity +NM_000198.4:c.501G>A NP_000189.1:p.Ala167= NC_000001.11:119422001:G:A p.(Ala167=) NC_000001.11:119422001:G:A p.(Ala167=) NC_000001.11:119422001:G:A Identity +NM_006623.4:c.1326G>A NP_006614.2:p.Thr442= NC_000001.11:119742922:G:A p.(Thr442=) NC_000001.11:119742922:G:A p.(Thr442=) NC_000001.11:119742922:G:A Identity +NM_001278189.2:c.693C>T NP_001265118.1:p.Tyr231= NC_000001.11:154169354:G:A p.(Tyr231=) NC_000001.11:154169354:G:A p.(Tyr231=) NC_000001.11:154169354:G:A Identity +NM_001193300.2:c.2106C>T NP_001180229.1:p.Leu702= NC_000001.11:156176816:C:T p.(Leu702=) NC_000001.11:156176816:C:T p.(Leu702=) NC_000001.11:156176816:C:T Identity +NM_003126.4:c.5304C>T NP_003117.2:p.Ala1768= NC_000001.11:158636646:G:A p.(Ala1768=) NC_000001.11:158636646:G:A p.(Ala1768=) NC_000001.11:158636646:G:A Identity +NM_001329090.2:c.2301G>A NP_001316019.1:p.Leu767= NC_000001.11:16131732:C:T p.(Leu767=) NC_000001.11:16131732:C:T p.(Leu767=) NC_000001.11:16131732:C:T Identity +NM_005149.3:c.315C>T NP_005140.1:p.Asn105= NC_000001.11:168291270:C:T p.(Asn105=) NC_000001.11:168291270:C:T p.(Asn105=) NC_000001.11:168291270:C:T Identity +NM_006996.3:c.795C>T NP_008927.1:p.Pro265= NC_000001.11:169477166:G:A p.(Pro265=) NC_000001.11:169477166:G:A p.(Pro265=) NC_000001.11:169477166:G:A Identity +NM_000261.2:c.114G>A NP_000252.1:p.Arg38= NC_000001.11:171652497:C:T p.(Arg38=) NC_000001.11:171652497:C:T p.(Arg38=) NC_000001.11:171652497:C:T Identity +NM_001141973.3:c.1932C>G NP_001135445.1:p.Pro644= NC_000001.11:16992300:G:C p.(Pro644=) NC_000001.11:16992300:G:C p.(Pro644=) NC_000001.11:16992300:G:C Identity +NM_033343.4:c.63T>C NP_203129.1:p.Gly21= NC_000001.11:180230591:T:C p.(Gly21=) NC_000001.11:180230591:T:C p.(Gly21=) NC_000001.11:180230591:T:C Identity +NM_001033044.4:c.880C>T NP_001028216.1:p.Leu294= NC_000001.11:182384646:G:A p.(Leu294=) NC_000001.11:182384646:G:A p.(Leu294=) NC_000001.11:182384646:G:A Identity +NM_001161504.2:c.1368C>T NP_001154976.1:p.Gly456= NC_000001.11:18874493:G:A p.(Gly456=) NC_000001.11:18874493:G:A p.(Gly456=) NC_000001.11:18874493:G:A Identity +NM_001161504.2:c.918G>A NP_001154976.1:p.Gly306= NC_000001.11:18877454:C:T p.(Gly306=) NC_000001.11:18877454:C:T p.(Gly306=) NC_000001.11:18877454:C:T Identity +NM_000537.4:c.630C>T NP_000528.1:p.Phe210= NC_000001.11:204159457:G:A p.(Phe210=) NC_000001.11:204159457:G:A p.(Phe210=) NC_000001.11:204159457:G:A Identity +NM_014053.4:c.534G>C NP_054772.1:p.Leu178= NC_000001.11:212858985:G:C p.(Leu178=) NC_000001.11:212858985:G:C p.(Leu178=) NC_000001.11:212858985:G:C Identity +NM_001291860.2:c.7809C>A NP_001278789.1:p.Val2603= NC_000001.11:21848024:G:T p.(Val2603=) NC_000001.11:21848024:G:T p.(Val2603=) NC_000001.11:21848024:G:T Identity +NM_000447.3:c.222C>G NP_000438.2:p.Gly74= NC_000001.11:226883784:C:G p.(Gly74=) NC_000001.11:226883784:C:G p.(Gly74=) NC_000001.11:226883784:C:G Identity +NM_001316350.2:c.1270C>T NP_001303279.1:p.Leu424= NC_000001.11:231270930:C:T p.(Leu424=) NC_000001.11:231270930:C:T p.(Leu424=) NC_000001.11:231270930:C:T Identity +NM_000081.4:c.7368T>C NP_000072.2:p.Asn2456= NC_000001.11:235753135:A:G p.(Asn2456=) NC_000001.11:235753135:A:G p.(Asn2456=) NC_000001.11:235753135:A:G Identity +NM_001243565.2:c.351C>T NP_001230494.1:p.Tyr117= NC_000001.11:26447585:C:T p.(Tyr117=) NC_000001.11:26447585:C:T p.(Tyr117=) NC_000001.11:26447585:C:T Identity +NM_001852.4:c.1824A>G NP_001843.1:p.Glu608= NC_000001.11:40301857:T:C p.(Glu608=) NC_000001.11:40301857:T:C p.(Glu608=) NC_000001.11:40301857:T:C Identity +NM_001291593.2:c.576T>C NP_001278522.1:p.Pro192= NC_000001.11:5904644:A:G p.(Pro192=) NC_000001.11:5904644:A:G p.(Pro192=) NC_000001.11:5904644:A:G Identity +NM_001003679.3:c.2103C>T NP_001003679.1:p.Phe701= NC_000001.11:65616114:C:T p.(Phe701=) NC_000001.11:65616114:C:T p.(Phe701=) NC_000001.11:65616114:C:T Identity +NM_002303.6:c.3057G>A NP_002294.2:p.Pro1019= NC_000001.11:65636573:G:A p.(Pro1019=) NC_000001.11:65636573:G:A p.(Pro1019=) NC_000001.11:65636573:G:A Identity +NM_000329.3:c.1194C>T NP_000320.1:p.Asp398= NC_000001.11:68431519:G:A p.(Asp398=) NC_000001.11:68431519:G:A p.(Asp398=) NC_000001.11:68431519:G:A Identity +NM_000274.4:c.639C>T NP_000265.1:p.Pro213= NC_000010.11:124405444:G:A p.(Pro213=) NC_000010.11:124405444:G:A p.(Pro213=) NC_000010.11:124405444:G:A Identity +NM_001008211.1:c.441G>A NP_001008212.1:p.Val147= NC_000010.11:13112523:G:A p.(Val147=) NC_000010.11:13112523:G:A p.(Val147=) NC_000010.11:13112523:G:A Identity +NM_001081.4:c.8412T>C NP_001072.2:p.Gly2804= NC_000010.11:16899181:A:G p.(Gly2804=) NC_000010.11:16899181:A:G p.(Gly2804=) NC_000010.11:16899181:A:G Identity +NM_001081.4:c.939C>T NP_001072.2:p.Asn313= NC_000010.11:17110994:G:A p.(Asn313=) NC_000010.11:17110994:G:A p.(Asn313=) NC_000010.11:17110994:G:A Identity +NM_001256053.2:c.162C>T NP_001242982.1:p.Ala54= NC_000010.11:27100164:G:A p.(Ala54=) NC_000010.11:27100164:G:A p.(Ala54=) NC_000010.11:27100164:G:A Identity +NM_002900.3:c.258C>T NP_002891.1:p.Arg86= NC_000010.11:47348741:C:T p.(Arg86=) NC_000010.11:47348741:C:T p.(Arg86=) NC_000010.11:47348741:C:T Identity +NM_000242.3:c.483T>C NP_000233.1:p.Ser161= NC_000010.11:52768400:A:G p.(Ser161=) NC_000010.11:52768400:A:G p.(Ser161=) NC_000010.11:52768400:A:G Identity +NM_007055.4:c.2286C>T NP_008986.2:p.His762= NC_000010.11:78002269:G:A p.(His762=) NC_000010.11:78002269:G:A p.(His762=) NC_000010.11:78002269:G:A Identity +NM_007055.4:c.1566G>T NP_008986.2:p.Leu522= NC_000010.11:78013655:C:A p.(Leu522=) NC_000010.11:78013655:C:A p.(Leu522=) NC_000010.11:78013655:C:A Identity +NM_001002295.2:c.573C>T NP_001002295.1:p.Pro191= NC_000010.11:8058635:C:T p.(Pro191=) NC_000010.11:8058635:C:T p.(Pro191=) NC_000010.11:8058635:C:T Identity +NM_001171971.3:c.1344C>T NP_001165442.1:p.Thr448= NC_000010.11:84211023:C:T p.(Thr448=) NC_000010.11:84211023:C:T p.(Thr448=) NC_000010.11:84211023:C:T Identity +NM_004621.6:c.2574A>C NP_004612.2:p.Ile858= NC_000011.10:101453719:T:G p.(Ile858=) NC_000011.10:101453719:T:G p.(Ile858=) NC_000011.10:101453719:T:G Identity +NM_004621.6:c.2508T>C NP_004612.2:p.Ser836= NC_000011.10:101455077:A:G p.(Ser836=) NC_000011.10:101455077:A:G p.(Ser836=) NC_000011.10:101455077:A:G Identity +NM_000480.3:c.627T>G NP_000471.1:p.Pro209= NC_000011.10:10484829:T:G p.(Pro209=) NC_000011.10:10484829:T:G p.(Pro209=) NC_000011.10:10484829:T:G Identity +NM_001260492.2:c.1188T>C NP_001247421.1:p.Ala396= NC_000011.10:110237554:A:G p.(Ala396=) NC_000011.10:110237554:A:G p.(Ala396=) NC_000011.10:110237554:A:G Identity +NM_001289807.1:c.375A>C NP_001276736.1:p.Pro125= NC_000011.10:111908916:T:G p.(Pro125=) NC_000011.10:111908916:T:G p.(Pro125=) NC_000011.10:111908916:T:G Identity +NM_001558.4:c.336C>T NP_001549.2:p.Thr112= NC_000011.10:117989588:C:T p.(Thr112=) NC_000011.10:117989588:C:T p.(Thr112=) NC_000011.10:117989588:C:T Identity +NM_001378761.1:c.7077C>T NP_001365690.1:p.Cys2359= NC_000011.10:121187966:C:T p.(Cys2359=) NC_000011.10:121187966:C:T p.(Cys2359=) NC_000011.10:121187966:C:T Identity +NM_000220.6:c.102G>A NP_000211.1:p.Gly34= NC_000011.10:128840198:C:T p.(Gly34=) NC_000011.10:128840198:C:T p.(Gly34=) NC_000011.10:128840198:C:T Identity +NM_000890.5:c.273C>T NP_000881.3:p.Leu91= NC_000011.10:128911545:C:T p.(Leu91=) NC_000011.10:128911545:C:T p.(Leu91=) NC_000011.10:128911545:C:T Identity +NM_001318369.2:c.951G>A NP_001305298.1:p.Pro317= NC_000011.10:20636334:G:A p.(Pro317=) NC_000011.10:20636334:G:A p.(Pro317=) NC_000011.10:20636334:G:A Identity +NM_001318369.2:c.1161C>T NP_001305298.1:p.Ile387= NC_000011.10:20637296:C:T p.(Ile387=) NC_000011.10:20637296:C:T p.(Ile387=) NC_000011.10:20637296:C:T Identity +NM_000401.3:c.1860G>A NP_000392.3:p.Thr620= NC_000011.10:44232450:G:A p.(Thr620=) NC_000011.10:44232450:G:A p.(Thr620=) NC_000011.10:44232450:G:A Identity +LRG_1256t1:c.594C>A LRG_1256p1:p.Leu198= NC_000011.10:44275530:G:T ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found ERR:AlignmentMapper(tx_ac=LRG_1256t1, alt_ac=LRG_1256t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1256t1, alt_ac=LRG_1256t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found +NM_001276326.2:c.258C>T NP_001263255.1:p.His86= NC_000011.10:64591813:C:T p.(His86=) NC_000011.10:64591813:C:T p.(His86=) NC_000011.10:64591813:C:T Identity +NM_001164716.1:c.2004C>T NP_001158188.1:p.Pro668= NC_000011.10:64747267:G:A p.(Pro668=) NC_000011.10:64747267:G:A p.(Pro668=) NC_000011.10:64747267:G:A Identity +NM_006946.4:c.234G>A NP_008877.2:p.Val78= NC_000011.10:66715904:C:T p.(Val78=) NC_000011.10:66715904:C:T p.(Val78=) NC_000011.10:66715904:C:T Identity +NM_001302959.2:c.483C>T NP_001289888.1:p.Ser161= NC_000011.10:67490329:C:T p.(Ser161=) NC_000011.10:67490329:C:T p.(Ser161=) NC_000011.10:67490329:C:T Identity +NM_001302959.2:c.729G>A NP_001289888.1:p.Val243= NC_000011.10:67490905:G:A p.(Val243=) NC_000011.10:67490905:G:A p.(Val243=) NC_000011.10:67490905:G:A Identity +NM_001814.6:c.948G>C NP_001805.4:p.Leu316= NC_000011.10:88294449:C:G p.(Leu316=) NC_000011.10:88294449:C:G p.(Leu316=) NC_000011.10:88294449:C:G Identity +NM_001386339.1:c.4629A>G NP_001373268.1:p.Thr1543= NC_000011.10:9795867:T:C p.(Thr1543=) NC_000011.10:9795867:T:C p.(Thr1543=) NC_000011.10:9795867:T:C Identity +NM_001160708.2:c.2931C>T NP_001154180.1:p.Pro977= NC_000012.12:106504086:C:T p.(Pro977=) NC_000012.12:106504086:C:T p.(Pro977=) NC_000012.12:106504086:C:T Identity +NM_003362.4:c.177C>T NP_003353.1:p.Ala59= NC_000012.12:109098502:C:T p.(Ala59=) NC_000012.12:109098502:C:T p.(Ala59=) NC_000012.12:109098502:C:T Identity +NM_001143850.3:c.810A>C NP_001137322.1:p.Ala270= NC_000012.12:123688098:A:C p.(Ala270=) NC_000012.12:123688098:A:C p.(Ala270=) NC_000012.12:123688098:A:C Identity +NM_000900.5:c.84T>C NP_000891.2:p.Ser28= NC_000012.12:14884222:A:G p.(Ser28=) NC_000012.12:14884222:A:G p.(Ser28=) NC_000012.12:14884222:A:G Identity +NM_001173463.2:c.162A>G NP_001166934.1:p.Val54= NC_000012.12:39370143:T:C p.(Val54=) NC_000012.12:39370143:T:C p.(Val54=) NC_000012.12:39370143:T:C Identity +NM_000376.3:c.1134G>T NP_000367.1:p.Leu378= NC_000012.12:47844895:C:A p.(Leu378=) NC_000012.12:47844895:C:A p.(Leu378=) NC_000012.12:47844895:C:A Identity +NM_003482.4:c.15120C>T NP_003473.3:p.Asp5040= NC_000012.12:49026845:G:A p.(Asp5040=) NC_000012.12:49026845:G:A p.(Asp5040=) NC_000012.12:49026845:G:A Identity +NM_002282.3:c.1017C>T NP_002273.3:p.Ala339= NC_000012.12:52316491:G:A p.(Ala339=) NC_000012.12:52316491:G:A p.(Ala339=) NC_000012.12:52316491:G:A Identity +NM_002282.3:c.183C>T NP_002273.3:p.Ala61= NC_000012.12:52321152:G:A p.(Ala61=) NC_000012.12:52321152:G:A p.(Ala61=) NC_000012.12:52321152:G:A Identity +NM_000423.3:c.1281C>T NP_000414.2:p.Ala427= NC_000012.12:52646927:G:A p.(Ala427=) NC_000012.12:52646927:G:A p.(Ala427=) NC_000012.12:52646927:G:A Identity +NM_001173466.2:c.1416T>C NP_001166937.1:p.Pro472= NC_000012.12:53307614:A:G p.(Pro472=) NC_000012.12:53307614:A:G p.(Pro472=) NC_000012.12:53307614:A:G Identity +NM_000552.5:c.7947C>T NP_000543.3:p.Cys2649= NC_000012.12:5953534:G:A p.(Cys2649=) NC_000012.12:5953534:G:A p.(Cys2649=) NC_000012.12:5953534:G:A Identity +NM_001258334.2:c.276C>T NP_001245263.1:p.Asp92= NC_000012.12:95994964:G:A p.(Asp92=) NC_000012.12:95994964:G:A p.(Asp92=) NC_000012.12:95994964:G:A Identity +NM_001184985.2:c.6261A>G NP_001171914.1:p.Thr2087= NC_000012.12:890484:A:G p.(Thr2087=) NC_000012.12:890484:A:G p.(Thr2087=) NC_000012.12:890484:A:G Identity +NM_001321931.1:c.441G>A NP_001308860.1:p.Ala147= NC_000013.11:101722881:C:T p.(Ala147=) NC_000013.11:101722881:C:T p.(Ala147=) NC_000013.11:101722881:C:T Identity +NM_001098268.2:c.2499T>C NP_001091738.1:p.Asn833= NC_000013.11:108208769:A:G p.(Asn833=) NC_000013.11:108208769:A:G p.(Asn833=) NC_000013.11:108208769:A:G Identity +NM_001845.6:c.3288A>G NP_001836.3:p.Pro1096= NC_000013.11:110174659:T:C p.(Pro1096=) NC_000013.11:110174659:T:C p.(Pro1096=) NC_000013.11:110174659:T:C Identity +NM_021954.4:c.375A>G NP_068773.2:p.Pro125= NC_000013.11:20142913:T:C p.(Pro125=) NC_000013.11:20142913:T:C p.(Pro125=) NC_000013.11:20142913:T:C Identity +NM_001278055.2:c.10275C>G NP_001264984.1:p.Pro3425= NC_000013.11:23333159:G:C p.(Pro3425=) NC_000013.11:23333159:G:C p.(Pro3425=) NC_000013.11:23333159:G:C Identity +NM_018451.5:c.504A>G NP_060921.3:p.Leu168= NC_000013.11:24912009:T:C p.(Leu168=) NC_000013.11:24912009:T:C p.(Leu168=) NC_000013.11:24912009:T:C Identity +NM_001127217.3:c.1035G>A NP_001120689.1:p.Val345= NC_000013.11:36853643:C:T p.(Val345=) NC_000013.11:36853643:C:T p.(Val345=) NC_000013.11:36853643:C:T Identity +NM_207361.6:c.3738G>A NP_997244.4:p.Thr1246= NC_000013.11:38691081:G:A p.(Thr1246=) NC_000013.11:38691081:G:A p.(Thr1246=) NC_000013.11:38691081:G:A Identity +NM_001145079.2:c.828A>C NP_001138551.1:p.Thr276= NC_000013.11:39687541:A:C p.(Thr276=) NC_000013.11:39687541:A:C p.(Thr276=) NC_000013.11:39687541:A:C Identity +NM_020751.3:c.1851A>C NP_065802.1:p.Thr617= NC_000013.11:39750969:A:C p.(Thr617=) NC_000013.11:39750969:A:C p.(Thr617=) NC_000013.11:39750969:A:C Identity +NM_005708.5:c.1137A>C NP_005699.1:p.Thr379= NC_000013.11:94306107:A:C p.(Thr379=) NC_000013.11:94306107:A:C p.(Thr379=) NC_000013.11:94306107:A:C Identity +NM_001376.5:c.10575T>C NP_001367.2:p.Arg3525= NC_000014.9:102034136:T:C p.(Arg3525=) NC_000014.9:102034136:T:C p.(Arg3525=) NC_000014.9:102034136:T:C Identity +NM_020529.3:c.81C>T NP_065390.1:p.Asp27= NC_000014.9:35404563:G:A p.(Asp27=) NC_000014.9:35404563:G:A p.(Asp27=) NC_000014.9:35404563:G:A Identity +NM_001079668.3:c.201G>A NP_001073136.1:p.Pro67= NC_000014.9:36519246:C:T p.(Pro67=) NC_000014.9:36519246:C:T p.(Pro67=) NC_000014.9:36519246:C:T Identity +NM_001202.6:c.288A>G NP_001193.2:p.Glu96= NC_000014.9:53951934:T:C p.(Glu96=) NC_000014.9:53951934:T:C p.(Glu96=) NC_000014.9:53951934:T:C Identity +NM_001024858.4:c.1707G>A NP_001020029.1:p.Lys569= NC_000014.9:64794554:C:T p.(Lys569=) NC_000014.9:64794554:C:T p.(Lys569=) NC_000014.9:64794554:C:T Identity +NM_001024858.4:c.996C>T NP_001020029.1:p.Asn332= NC_000014.9:64799814:G:A p.(Asn332=) NC_000014.9:64799814:G:A p.(Asn332=) NC_000014.9:64799814:G:A Identity +NM_000428.3:c.4869G>A NP_000419.1:p.Leu1623= NC_000014.9:74503237:C:T p.(Leu1623=) NC_000014.9:74503237:C:T p.(Leu1623=) NC_000014.9:74503237:C:T Identity +NM_001321851.1:c.180T>C NP_001308780.1:p.His60= NC_000014.9:92033209:A:G p.(His60=) NC_000014.9:92033209:A:G p.(His60=) NC_000014.9:92033209:A:G Identity +NM_139057.4:c.1587G>C NP_620688.2:p.Ala529= NC_000015.10:100132140:C:G p.(Ala529=) NC_000015.10:100132140:C:G p.(Ala529=) NC_000015.10:100132140:C:G Identity +NM_144508.5:c.144T>C NP_653091.3:p.Asn48= NC_000015.10:40608854:T:C p.(Asn48=) NC_000015.10:40608854:T:C p.(Asn48=) NC_000015.10:40608854:T:C Identity +NM_001160227.2:c.4137A>G NP_001153699.1:p.Gln1379= NC_000015.10:44596807:T:C p.(Gln1379=) NC_000015.10:44596807:T:C p.(Gln1379=) NC_000015.10:44596807:T:C Identity +NM_001363711.2:c.4098G>A NP_001350640.1:p.Pro1366= NC_000015.10:45095577:C:T p.(Pro1366=) NC_000015.10:45095577:C:T p.(Pro1366=) NC_000015.10:45095577:C:T Identity +NM_000338.3:c.828G>A NP_000329.2:p.Val276= NC_000015.10:48229291:G:A p.(Val276=) NC_000015.10:48229291:G:A p.(Val276=) NC_000015.10:48229291:G:A Identity +NM_000338.3:c.2943T>C NP_000329.2:p.Ile981= NC_000015.10:48291846:T:C p.(Ile981=) NC_000015.10:48291846:T:C p.(Ile981=) NC_000015.10:48291846:T:C Identity +NM_001142617.2:c.331C>T NP_001136089.1:p.Leu111= NC_000015.10:74196082:G:A p.(Leu111=) NC_000015.10:74196082:G:A p.(Leu111=) NC_000015.10:74196082:G:A Identity +NM_000137.4:c.567A>G NP_000128.1:p.Val189= NC_000015.10:80168276:A:G p.(Val189=) NC_000015.10:80168276:A:G p.(Val189=) NC_000015.10:80168276:A:G Identity +NM_000875.5:c.903C>A NP_000866.1:p.Gly301= NC_000015.10:98891586:C:A p.(Gly301=) NC_000015.10:98891586:C:A p.(Gly301=) NC_000015.10:98891586:C:A Identity +NM_000875.5:c.2868C>T NP_000866.1:p.Tyr956= NC_000015.10:98929642:C:T p.(Tyr956=) NC_000015.10:98929642:C:T p.(Tyr956=) NC_000015.10:98929642:C:T Identity +NM_000246.4:c.2565G>A NP_000237.2:p.Ala855= NC_000016.10:10908056:G:A p.(Ala855=) NC_000016.10:10908056:G:A p.(Ala855=) NC_000016.10:10908056:G:A Identity +NM_014714.4:c.2817G>A NP_055529.2:p.Ser939= NC_000016.10:1525277:C:T p.(Ser939=) NC_000016.10:1525277:C:T p.(Ser939=) NC_000016.10:1525277:C:T Identity +NM_001040113.2:c.2031C>T NP_001035202.1:p.Asn677= NC_000016.10:15750185:G:A p.(Asn677=) NC_000016.10:15750185:G:A p.(Asn677=) NC_000016.10:15750185:G:A Identity +NM_001089.3:c.2679C>T NP_001080.2:p.Thr893= NC_000016.10:2289454:G:A p.(Thr893=) NC_000016.10:2289454:G:A p.(Thr893=) NC_000016.10:2289454:G:A Identity +NM_001178098.2:c.384C>T NP_001171569.1:p.Asp128= NC_000016.10:28932938:C:T p.(Asp128=) NC_000016.10:28932938:C:T p.(Asp128=) NC_000016.10:28932938:C:T Identity +NM_001127617.2:c.945C>T NP_001121089.1:p.Gly315= NC_000016.10:30069974:C:T p.(Gly315=) NC_000016.10:30069974:C:T p.(Gly315=) NC_000016.10:30069974:C:T Identity +NM_000294.3:c.318G>T NP_000285.1:p.Val106= NC_000016.10:30751594:G:T p.(Val106=) NC_000016.10:30751594:G:T p.(Val106=) NC_000016.10:30751594:G:T Identity +NM_032444.4:c.1324A>C NP_115820.2:p.Arg442= NC_000016.10:3597838:T:G p.(Arg442=) NC_000016.10:3597838:T:G p.(Arg442=) NC_000016.10:3597838:T:G Identity +NM_001318918.2:c.1011G>A NP_001305847.1:p.Pro337= NC_000016.10:4336959:G:A p.(Pro337=) NC_000016.10:4336959:G:A p.(Pro337=) NC_000016.10:4336959:G:A Identity +NM_001042355.2:c.1494C>T NP_001035814.1:p.Leu498= NC_000016.10:50780028:C:T p.(Leu498=) NC_000016.10:50780028:C:T p.(Leu498=) NC_000016.10:50780028:C:T Identity +NM_001042355.2:c.2403C>T NP_001035814.1:p.Asp801= NC_000016.10:50793606:C:T p.(Asp801=) NC_000016.10:50793606:C:T p.(Asp801=) NC_000016.10:50793606:C:T Identity +NM_001127891.3:c.948C>T NP_001121363.1:p.Ala316= NC_000016.10:55489741:C:T p.(Ala316=) NC_000016.10:55489741:C:T p.(Ala316=) NC_000016.10:55489741:C:T Identity +NM_000339.3:c.2820C>T NP_000330.3:p.Asn940= NC_000016.10:56902444:C:T p.(Asn940=) NC_000016.10:56902444:C:T p.(Asn940=) NC_000016.10:56902444:C:T Identity +NM_001317195.3:c.813C>A NP_001304124.1:p.Thr271= NC_000016.10:68679919:C:A p.(Thr271=) NC_000016.10:68679919:C:A p.(Thr271=) NC_000016.10:68679919:C:A Identity +NM_001317195.3:c.1848C>T NP_001304124.1:p.Asp616= NC_000016.10:68691771:C:T p.(Asp616=) NC_000016.10:68691771:C:T p.(Asp616=) NC_000016.10:68691771:C:T Identity +NM_021615.5:c.708C>T NP_067628.1:p.Asp236= NC_000016.10:75479120:G:A p.(Asp236=) NC_000016.10:75479120:G:A p.(Asp236=) NC_000016.10:75479120:G:A Identity +NM_001367624.2:c.7116C>G NP_001354553.1:p.Thr2372= NC_000016.10:88434585:C:G p.(Thr2372=) NC_000016.10:88434585:C:G p.(Thr2372=) NC_000016.10:88434585:C:G Identity +NM_000663.5:c.984C>A NP_000654.2:p.Val328= NC_000016.10:8774918:C:A p.(Val328=) NC_000016.10:8774918:C:A p.(Val328=) NC_000016.10:8774918:C:A Identity +NM_000485.3:c.216C>A NP_000476.1:p.Gly72= NC_000016.10:88810527:G:T p.(Gly72=) NC_000016.10:88810527:G:T p.(Gly72=) NC_000016.10:88810527:G:T Identity +NM_002470.4:c.5331C>T NP_002461.2:p.Ser1777= NC_000017.11:10630413:G:A p.(Ser1777=) NC_000017.11:10630413:G:A p.(Ser1777=) NC_000017.11:10630413:G:A Identity +NM_002470.4:c.5274G>A NP_002461.2:p.Lys1758= NC_000017.11:10631622:C:T p.(Lys1758=) NC_000017.11:10631622:C:T p.(Lys1758=) NC_000017.11:10631622:C:T Identity +NM_016239.4:c.2259G>T NP_057323.3:p.Ala753= NC_000017.11:18121058:G:T p.(Ala753=) NC_000017.11:18121058:G:T p.(Ala753=) NC_000017.11:18121058:G:T Identity +NM_001258205.2:c.2334T>C NP_001245134.1:p.Asn778= NC_000017.11:3513958:A:G p.(Asn778=) NC_000017.11:3513958:A:G p.(Asn778=) NC_000017.11:3513958:A:G Identity +NM_001004334.4:c.3819C>G NP_001004334.3:p.Ala1273= NC_000017.11:38329749:G:C p.(Ala1273=) NC_000017.11:38329749:G:C p.(Ala1273=) NC_000017.11:38329749:G:C Identity +NM_001004334.4:c.1417C>T NP_001004334.3:p.Leu473= NC_000017.11:38335260:G:A p.(Leu473=) NC_000017.11:38335260:G:A p.(Leu473=) NC_000017.11:38335260:G:A Identity +NM_001004334.4:c.645G>A NP_001004334.3:p.Pro215= NC_000017.11:38343144:C:T p.(Pro215=) NC_000017.11:38343144:C:T p.(Pro215=) NC_000017.11:38343144:C:T Identity +NM_000226.4:c.222C>T NP_000217.2:p.Gly74= NC_000017.11:41571770:G:A p.(Gly74=) NC_000017.11:41571770:G:A p.(Gly74=) NC_000017.11:41571770:G:A Identity +NM_001352773.2:c.1854C>T NP_001339702.1:p.Ala618= NC_000017.11:41757703:G:A p.(Ala618=) NC_000017.11:41757703:G:A p.(Ala618=) NC_000017.11:41757703:G:A Identity +NM_000419.5:c.487T>C NP_000410.2:p.Leu163= NC_000017.11:44385637:A:G p.(Leu163=) NC_000017.11:44385637:A:G p.(Leu163=) NC_000017.11:44385637:A:G Identity +NM_000789.4:c.1227T>C NP_000780.1:p.Arg409= NC_000017.11:63482573:T:C p.(Arg409=) NC_000017.11:63482573:T:C p.(Arg409=) NC_000017.11:63482573:T:C Identity +NM_000789.4:c.2487C>T NP_000780.1:p.Tyr829= NC_000017.11:63488977:C:T p.(Tyr829=) NC_000017.11:63488977:C:T p.(Tyr829=) NC_000017.11:63488977:C:T Identity +NM_000334.4:c.2592C>T NP_000325.4:p.Ala864= NC_000017.11:63951684:G:A p.(Ala864=) NC_000017.11:63951684:G:A p.(Ala864=) NC_000017.11:63951684:G:A Identity +NM_001165966.2:c.1746G>A NP_001159438.1:p.Glu582= NC_000017.11:6468260:C:T p.(Glu582=) NC_000017.11:6468260:C:T p.(Glu582=) NC_000017.11:6468260:C:T Identity +NM_000747.3:c.903C>T NP_000738.2:p.Thr301= NC_000017.11:7454378:C:T p.(Thr301=) NC_000017.11:7454378:C:T p.(Thr301=) NC_000017.11:7454378:C:T Identity +NM_004870.4:c.411C>T NP_004861.2:p.Tyr137= NC_000017.11:7586920:C:T p.(Tyr137=) NC_000017.11:7586920:C:T p.(Tyr137=) NC_000017.11:7586920:C:T Identity +NM_001113491.2:c.819G>A NP_001106963.1:p.Pro273= NC_000017.11:77482240:G:A p.(Pro273=) NC_000017.11:77482240:G:A p.(Pro273=) NC_000017.11:77482240:G:A Identity +NM_025099.6:c.3504C>T NP_079375.3:p.Ile1168= NC_000017.11:8228512:G:A p.(Ile1168=) NC_000017.11:8228512:G:A p.(Ile1168=) NC_000017.11:8228512:G:A Identity +NM_001374385.1:c.3450C>T NP_001361314.1:p.Ile1150= NC_000018.10:57650447:G:A p.(Ile1150=) NC_000018.10:57650447:G:A p.(Ile1150=) NC_000018.10:57650447:G:A Identity +NM_000528.4:c.2865G>A NP_000519.2:p.Thr955= NC_000019.10:12647290:C:T p.(Thr955=) NC_000019.10:12647290:C:T p.(Thr955=) NC_000019.10:12647290:C:T Identity +NM_006563.5:c.286C>T NP_006554.1:p.Leu96= NC_000019.10:12885943:G:A p.(Leu96=) NC_000019.10:12885943:G:A p.(Leu96=) NC_000019.10:12885943:G:A Identity +NM_000215.4:c.1653A>G NP_000206.2:p.Thr551= NC_000019.10:17837979:T:C p.(Thr551=) NC_000019.10:17837979:T:C p.(Thr551=) NC_000019.10:17837979:T:C Identity +NM_001126335.2:c.780C>T NP_001119807.1:p.Ile260= NC_000019.10:32859933:G:A p.(Ile260=) NC_000019.10:32859933:G:A p.(Ile260=) NC_000019.10:32859933:G:A Identity +NM_001126335.2:c.183T>A NP_001119807.1:p.Ala61= NC_000019.10:32864680:A:T p.(Ala61=) NC_000019.10:32864680:A:T p.(Ala61=) NC_000019.10:32864680:A:T Identity +NM_000285.4:c.1365C>T NP_000276.2:p.Val455= NC_000019.10:33387460:G:A p.(Val455=) NC_000019.10:33387460:G:A p.(Val455=) NC_000019.10:33387460:G:A Identity +NM_000540.3:c.6078G>A NP_000531.2:p.Glu2026= NC_000019.10:38490682:G:A p.(Glu2026=) NC_000019.10:38490682:G:A p.(Glu2026=) NC_000019.10:38490682:G:A Identity +NM_001256213.2:c.2871C>T NP_001243142.1:p.Phe957= NC_000019.10:41967744:G:A p.(Phe957=) NC_000019.10:41967744:G:A p.(Phe957=) NC_000019.10:41967744:G:A Identity +NM_005619.5:c.1593C>T NP_005610.1:p.Ala531= NC_000019.10:45485752:G:A p.(Ala531=) NC_000019.10:45485752:G:A p.(Ala531=) NC_000019.10:45485752:G:A Identity +NM_001077186.2:c.2388G>A NP_001070654.1:p.Arg796= NC_000019.10:50261536:G:A p.(Arg796=) NC_000019.10:50261536:G:A p.(Arg796=) NC_000019.10:50261536:G:A Identity +NM_001161748.2:c.108C>T NP_001155220.1:p.Ser36= NC_000019.10:51387335:G:A p.(Ser36=) NC_000019.10:51387335:G:A p.(Ser36=) NC_000019.10:51387335:G:A Identity +NM_001077446.4:c.765C>T NP_001070914.1:p.His255= NC_000019.10:54193193:C:T p.(His255=) NC_000019.10:54193193:C:T p.(His255=) NC_000019.10:54193193:C:T Identity +NM_000064.4:c.2430G>A NP_000055.2:p.Ser810= NC_000019.10:6702136:C:T p.(Ser810=) NC_000019.10:6702136:C:T p.(Ser810=) NC_000019.10:6702136:C:T Identity +NM_020533.3:c.558G>A NP_065394.1:p.Pro186= NC_000019.10:7526912:G:A p.(Pro186=) NC_000019.10:7526912:G:A p.(Pro186=) NC_000019.10:7526912:G:A Identity +NM_001166111.2:c.2988A>G NP_001159583.1:p.Val996= NC_000019.10:7555627:A:G p.(Val996=) NC_000019.10:7555627:A:G p.(Val996=) NC_000019.10:7555627:A:G Identity +NM_001127396.3:c.312C>T NP_001120868.1:p.Thr104= NC_000019.10:7640804:C:T p.(Thr104=) NC_000019.10:7640804:C:T p.(Thr104=) NC_000019.10:7640804:C:T Identity +NM_001127396.3:c.324C>T NP_001120868.1:p.Pro108= NC_000019.10:7640906:C:T p.(Pro108=) NC_000019.10:7640906:C:T p.(Pro108=) NC_000019.10:7640906:C:T Identity +NM_001320632.2:c.966T>C NP_001307561.1:p.Pro322= NC_000002.12:127050900:A:G p.(Pro322=) NC_000002.12:127050900:A:G p.(Pro322=) NC_000002.12:127050900:A:G Identity +NM_000122.2:c.1119G>A NP_000113.1:p.Gln373= NC_000002.12:127286925:C:T p.(Gln373=) NC_000002.12:127286925:C:T p.(Gln373=) NC_000002.12:127286925:C:T Identity +NM_000122.2:c.1026C>T NP_000113.1:p.Cys342= NC_000002.12:127288660:G:A p.(Cys342=) NC_000002.12:127288660:G:A p.(Cys342=) NC_000002.12:127288660:G:A Identity +NM_001172435.2:c.2098A>C NP_001165906.1:p.Arg700= NC_000002.12:135153684:A:C p.(Arg700=) NC_000002.12:135153684:A:C p.(Arg700=) NC_000002.12:135153684:A:C Identity +NM_002299.4:c.3759G>A NP_002290.2:p.Thr1253= NC_000002.12:135808587:C:T p.(Thr1253=) NC_000002.12:135808587:C:T p.(Thr1253=) NC_000002.12:135808587:C:T Identity +NM_001378120.1:c.2277G>A NP_001365049.1:p.Val759= NC_000002.12:148470219:G:A p.(Val759=) NC_000002.12:148470219:G:A p.(Val759=) NC_000002.12:148470219:G:A Identity +NM_001365536.1:c.2496A>C NP_001352465.1:p.Ser832= NC_000002.12:166278160:T:G p.(Ser832=) NC_000002.12:166278160:T:G p.(Ser832=) NC_000002.12:166278160:T:G Identity +LRG_1199t1:c.3330G>A LRG_1199p1:p.Ala1110= NC_000002.12:168930745:C:T ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_004525.3:c.453T>G NP_004516.2:p.Thr151= NC_000002.12:169294684:A:C p.(Thr151=) NC_000002.12:169294684:A:C p.(Thr151=) NC_000002.12:169294684:A:C Identity +NM_003659.4:c.1152C>A NP_003650.1:p.Val384= NC_000002.12:177482104:C:A p.(Val384=) NC_000002.12:177482104:C:A p.(Val384=) NC_000002.12:177482104:C:A Identity +NM_001139517.1:c.516T>C NP_001132989.1:p.Asn172= NC_000002.12:178441669:A:G p.(Asn172=) NC_000002.12:178441669:A:G p.(Asn172=) NC_000002.12:178441669:A:G Identity +NM_001256850.1:c.70455T>A NP_001243779.1:p.Gly23485= NC_000002.12:178570753:A:T p.(Gly23485=) NC_000002.12:178570753:A:T p.(Gly23485=) NC_000002.12:178570753:A:T Identity +NM_001256850.1:c.66870A>G NP_001243779.1:p.Pro22290= NC_000002.12:178574338:T:C p.(Pro22290=) NC_000002.12:178574338:T:C p.(Pro22290=) NC_000002.12:178574338:T:C Identity +NM_001204.7:c.708C>T NP_001195.2:p.Asn236= NC_000002.12:202518907:C:T p.(Asn236=) NC_000002.12:202518907:C:T p.(Asn236=) NC_000002.12:202518907:C:T Identity +NM_001204.7:c.2379A>C NP_001195.2:p.Thr793= NC_000002.12:202556043:A:C p.(Thr793=) NC_000002.12:202556043:A:C p.(Thr793=) NC_000002.12:202556043:A:C Identity +NM_015040.4:c.5334G>A NP_055855.2:p.Thr1778= NC_000002.12:208347982:G:A p.(Thr1778=) NC_000002.12:208347982:G:A p.(Thr1778=) NC_000002.12:208347982:G:A Identity +NM_002181.4:c.717C>T NP_002172.2:p.Thr239= NC_000002.12:219055725:G:A p.(Thr239=) NC_000002.12:219055725:G:A p.(Thr239=) NC_000002.12:219055725:G:A Identity +NM_001173408.2:c.1887C>T NP_001166879.1:p.Asp629= NC_000002.12:219567076:G:A p.(Asp629=) NC_000002.12:219567076:G:A p.(Asp629=) NC_000002.12:219567076:G:A Identity +NM_001173408.2:c.96G>A NP_001166879.1:p.Lys32= NC_000002.12:219571136:C:T p.(Lys32=) NC_000002.12:219571136:C:T p.(Lys32=) NC_000002.12:219571136:C:T Identity +NM_005199.5:c.1074C>T NP_005190.4:p.His358= NC_000002.12:232544404:C:T p.(His358=) NC_000002.12:232544404:C:T p.(His358=) NC_000002.12:232544404:C:T Identity +NM_004369.4:c.4935T>C NP_004360.2:p.Asp1645= NC_000002.12:237367251:A:G p.(Asp1645=) NC_000002.12:237367251:A:G p.(Asp1645=) NC_000002.12:237367251:A:G Identity +NM_000183.3:c.825T>C NP_000174.1:p.Val275= NC_000002.12:26280006:T:C p.(Val275=) NC_000002.12:26280006:T:C p.(Val275=) NC_000002.12:26280006:T:C Identity +NM_000221.3:c.159C>T NP_000212.1:p.Leu53= NC_000002.12:27092397:C:T p.(Leu53=) NC_000002.12:27092397:C:T p.(Leu53=) NC_000002.12:27092397:C:T Identity +NM_001201459.2:c.1074C>T NP_001188388.1:p.Leu358= NC_000002.12:27377910:G:A p.(Leu358=) NC_000002.12:27377910:G:A p.(Leu358=) NC_000002.12:27377910:G:A Identity +NM_000379.4:c.3084C>T NP_000370.2:p.Gly1028= NC_000002.12:31348330:G:A p.(Gly1028=) NC_000002.12:31348330:G:A p.(Gly1028=) NC_000002.12:31348330:G:A Identity +NM_000379.4:c.2634T>C NP_000370.2:p.Ile878= NC_000002.12:31350220:A:G p.(Ile878=) NC_000002.12:31350220:A:G p.(Ile878=) NC_000002.12:31350220:A:G Identity +NM_000379.4:c.837C>T NP_000370.2:p.Val279= NC_000002.12:31383803:G:A p.(Val279=) NC_000002.12:31383803:G:A p.(Val279=) NC_000002.12:31383803:G:A Identity +NM_001357321.2:c.762C>T NP_001344250.1:p.Thr254= NC_000002.12:43852665:C:T p.(Thr254=) NC_000002.12:43852665:C:T p.(Thr254=) NC_000002.12:43852665:C:T Identity +NM_001135040.3:c.3519C>T NP_001128512.1:p.Thr1173= NC_000002.12:74362664:G:A p.(Thr1173=) NC_000002.12:74362664:G:A p.(Thr1173=) NC_000002.12:74362664:G:A Identity +NM_001313915.2:c.879G>A NP_001300844.1:p.Leu293= NC_000002.12:88588078:C:T p.(Leu293=) NC_000002.12:88588078:C:T p.(Leu293=) NC_000002.12:88588078:C:T Identity +NM_014014.5:c.723G>A NP_054733.2:p.Ser241= NC_000002.12:96299334:C:T p.(Ser241=) NC_000002.12:96299334:C:T p.(Ser241=) NC_000002.12:96299334:C:T Identity +NM_001079878.2:c.1812C>T NP_001073347.1:p.Asp604= NC_000002.12:98397035:C:T p.(Asp604=) NC_000002.12:98397035:C:T p.(Asp604=) NC_000002.12:98397035:C:T Identity +NM_001363734.1:c.2361A>T NP_001350663.1:p.Thr787= NC_000020.11:32435255:A:T p.(Thr787=) NC_000020.11:32435255:A:T p.(Thr787=) NC_000020.11:32435255:A:T Identity +NM_001174089.2:c.765G>A NP_001167560.1:p.Thr255= NC_000020.11:3231512:C:T p.(Thr255=) NC_000020.11:3231512:C:T p.(Thr255=) NC_000020.11:3231512:C:T Identity +NM_001250.6:c.339T>C NP_001241.1:p.Ser113= NC_000020.11:46122691:T:C p.(Ser113=) NC_000020.11:46122691:T:C p.(Ser113=) NC_000020.11:46122691:T:C Identity +NM_002591.4:c.705C>T NP_002582.3:p.Tyr235= NC_000020.11:57563121:C:T p.(Tyr235=) NC_000020.11:57563121:C:T p.(Tyr235=) NC_000020.11:57563121:C:T Identity +NM_025219.3:c.504C>T NP_079495.1:p.Asp168= NC_000020.11:63931474:C:T p.(Asp168=) NC_000020.11:63931474:C:T p.(Asp168=) NC_000020.11:63931474:C:T Identity +NM_000933.4:c.1713C>T NP_000924.3:p.Tyr571= NC_000020.11:9408017:C:T p.(Tyr571=) NC_000020.11:9408017:C:T p.(Tyr571=) NC_000020.11:9408017:C:T Identity +NM_001379500.1:c.1659G>A NP_001366429.1:p.Gly553= NC_000021.9:45482009:G:A p.(Gly553=) NC_000021.9:45482009:G:A p.(Gly553=) NC_000021.9:45482009:G:A Identity +NM_001320412.2:c.1122G>A NP_001307341.1:p.Val374= NC_000021.9:46145554:C:T p.(Val374=) NC_000021.9:46145554:C:T p.(Val374=) NC_000021.9:46145554:C:T Identity +NM_001320412.2:c.192C>T NP_001307341.1:p.Asn64= NC_000021.9:46154194:G:A p.(Asn64=) NC_000021.9:46154194:G:A p.(Asn64=) NC_000021.9:46154194:G:A Identity +NM_016327.3:c.1122G>A NP_057411.1:p.Lys374= NC_000022.11:24525760:G:A p.(Lys374=) NC_000022.11:24525760:G:A p.(Lys374=) NC_000022.11:24525760:G:A Identity +NM_000355.4:c.501C>T NP_000346.2:p.His167= NC_000022.11:30614421:C:T p.(His167=) NC_000022.11:30614421:C:T p.(His167=) NC_000022.11:30614421:C:T Identity +NM_001289000.2:c.2193C>T NP_001275929.1:p.Asn731= NC_000022.11:37066948:G:A p.(Asn731=) NC_000022.11:37066948:G:A p.(Asn731=) NC_000022.11:37066948:G:A Identity +NM_001167574.2:c.495A>G NP_001161046.1:p.Gln165= NC_000022.11:45295712:A:G p.(Gln165=) NC_000022.11:45295712:A:G p.(Gln165=) NC_000022.11:45295712:A:G Identity +NM_020754.4:c.4110G>A NP_065805.2:p.Lys1370= NC_000003.12:119416038:G:A p.(Lys1370=) NC_000003.12:119416038:G:A p.(Lys1370=) NC_000003.12:119416038:G:A Identity +NM_000187.4:c.765T>C NP_000178.2:p.Ala255= NC_000003.12:120644327:A:G p.(Ala255=) NC_000003.12:120644327:A:G p.(Ala255=) NC_000003.12:120644327:A:G Identity +NM_000373.4:c.1038A>G NP_000364.1:p.Pro346= NC_000003.12:124740078:A:G p.(Pro346=) NC_000003.12:124740078:A:G p.(Pro346=) NC_000003.12:124740078:A:G Identity +NM_004637.6:c.552C>T NP_004628.4:p.Asn184= NC_000003.12:128813349:C:T p.(Asn184=) NC_000003.12:128813349:C:T p.(Asn184=) NC_000003.12:128813349:C:T Identity +NM_001001485.3:c.636G>A NP_001001485.1:p.Ser212= NC_000003.12:130953924:G:A p.(Ser212=) NC_000003.12:130953924:G:A p.(Ser212=) NC_000003.12:130953924:G:A Identity +NM_001063.4:c.1602C>T NP_001054.2:p.Tyr534= NC_000003.12:133768143:C:T p.(Tyr534=) NC_000003.12:133768143:C:T p.(Tyr534=) NC_000003.12:133768143:C:T Identity +NM_000685.5:c.942C>T NP_000676.1:p.Leu314= NC_000003.12:148741976:C:T p.(Leu314=) NC_000003.12:148741976:C:T p.(Leu314=) NC_000003.12:148741976:C:T Identity +NM_000096.4:c.2697T>C NP_000087.2:p.Val899= NC_000003.12:149178595:A:G p.(Val899=) NC_000003.12:149178595:A:G p.(Val899=) NC_000003.12:149178595:A:G Identity +NM_001308164.2:c.759A>G NP_001295093.1:p.Arg253= NC_000003.12:158652107:A:G p.(Arg253=) NC_000003.12:158652107:A:G p.(Arg253=) NC_000003.12:158652107:A:G Identity +NM_001041.4:c.5367T>C NP_001032.2:p.Tyr1789= NC_000003.12:164982290:A:G p.(Tyr1789=) NC_000003.12:164982290:A:G p.(Tyr1789=) NC_000003.12:164982290:A:G Identity +NM_001041.4:c.567G>A NP_001032.2:p.Leu189= NC_000003.12:165067407:C:T p.(Leu189=) NC_000003.12:165067407:C:T p.(Leu189=) NC_000003.12:165067407:C:T Identity +NM_031955.6:c.1365G>T NP_114161.3:p.Val455= NC_000003.12:172916454:C:A p.(Val455=) NC_000003.12:172916454:C:A p.(Val455=) NC_000003.12:172916454:C:A Identity +NM_001290003.1:c.285T>C NP_001276932.1:p.Ser95= NC_000003.12:184376394:A:G p.(Ser95=) NC_000003.12:184376394:A:G p.(Ser95=) NC_000003.12:184376394:A:G Identity +NM_001114978.2:c.1374A>G NP_001108450.1:p.Ser458= NC_000003.12:189886417:A:G p.(Ser458=) NC_000003.12:189886417:A:G p.(Ser458=) NC_000003.12:189886417:A:G Identity +NM_001106.4:c.1452G>A NP_001097.2:p.Ser484= NC_000003.12:38483244:G:A p.(Ser484=) NC_000003.12:38483244:G:A p.(Ser484=) NC_000003.12:38483244:G:A Identity +NM_001099952.4:c.7593C>T NP_001093422.2:p.Leu2531= NC_000003.12:4815087:C:T p.(Leu2531=) NC_000003.12:4815087:C:T p.(Leu2531=) NC_000003.12:4815087:C:T Identity +NM_002292.4:c.3198A>G NP_002283.3:p.Pro1066= NC_000003.12:49124523:T:C p.(Pro1066=) NC_000003.12:49124523:T:C p.(Pro1066=) NC_000003.12:49124523:T:C Identity +NM_003280.3:c.81C>T NP_003271.1:p.Phe27= NC_000003.12:52452226:G:A p.(Phe27=) NC_000003.12:52452226:G:A p.(Phe27=) NC_000003.12:52452226:G:A Identity +NM_000313.4:c.684C>T NP_000304.2:p.Cys228= NC_000003.12:93900846:G:A p.(Cys228=) NC_000003.12:93900846:G:A p.(Cys228=) NC_000003.12:93900846:G:A Identity +LRG_1077t1:c.252G>A LRG_1077p1:p.Gly84= NC_000003.12:98593252:C:T ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found +LRG_1077t1:c.33C>T LRG_1077p1:p.Gly11= NC_000003.12:98593471:G:A ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found +NM_001300823.2:c.756G>A NP_001287752.1:p.Gln252= NC_000004.12:120816468:C:T p.(Gln252=) NC_000004.12:120816468:C:T p.(Gln252=) NC_000004.12:120816468:C:T Identity +NM_001184741.1:c.387T>C NP_001171670.1:p.Asn129= NC_000004.12:154567665:T:C p.(Asn129=) NC_000004.12:154567665:T:C p.(Asn129=) NC_000004.12:154567665:T:C Identity +NM_001166108.2:c.366T>G NP_001159580.1:p.Pro122= NC_000004.12:168511869:T:G p.(Pro122=) NC_000004.12:168511869:T:G p.(Pro122=) NC_000004.12:168511869:T:G Identity +NM_001317924.2:c.813C>T NP_001304853.1:p.Ala271= NC_000004.12:39217176:C:T p.(Ala271=) NC_000004.12:39217176:C:T p.(Ala271=) NC_000004.12:39217176:C:T Identity +NM_001267722.2:c.1467T>C NP_001254651.1:p.Asp489= NC_000004.12:56495365:T:C p.(Asp489=) NC_000004.12:56495365:T:C p.(Asp489=) NC_000004.12:56495365:T:C Identity +NM_001306090.2:c.1818A>C NP_001293019.1:p.Thr606= NC_000004.12:5793648:A:C p.(Thr606=) NC_000004.12:5793648:A:C p.(Thr606=) NC_000004.12:5793648:A:C Identity +NM_000283.4:c.2091G>A NP_000274.3:p.Glu697= NC_000004.12:664182:G:A p.(Glu697=) NC_000004.12:664182:G:A p.(Glu697=) NC_000004.12:664182:G:A Identity +NM_025074.7:c.9183G>A NP_079350.5:p.Ala3061= NC_000004.12:78499787:G:A p.(Ala3061=) NC_000004.12:78499787:G:A p.(Ala3061=) NC_000004.12:78499787:G:A Identity +NM_001145794.2:c.252G>A NP_001139266.1:p.Val84= NC_000004.12:80069479:C:T p.(Val84=) NC_000004.12:80069479:C:T p.(Val84=) NC_000004.12:80069479:C:T Identity +NM_001318067.1:c.1080C>T NP_001304996.1:p.Asn360= NC_000004.12:86064295:G:A p.(Asn360=) NC_000004.12:86064295:G:A p.(Asn360=) NC_000004.12:86064295:G:A Identity +NM_000297.4:c.2295T>C NP_000288.1:p.Asp765= NC_000004.12:88065815:T:C p.(Asp765=) NC_000004.12:88065815:T:C p.(Asp765=) NC_000004.12:88065815:T:C Identity +NM_001308100.2:c.849C>T NP_001295029.1:p.Thr283= NC_000005.10:122423444:C:T p.(Thr283=) NC_000005.10:122423444:C:T p.(Thr283=) NC_000005.10:122423444:C:T Identity +NM_001256545.2:c.2442T>C NP_001243474.1:p.Thr814= NC_000005.10:127443076:T:C p.(Thr814=) NC_000005.10:127443076:T:C p.(Thr814=) NC_000005.10:127443076:T:C Identity +NM_001257194.1:c.1305C>A NP_001244123.1:p.Thr435= NC_000005.10:137634085:G:T p.(Thr435=) NC_000005.10:137634085:G:T p.(Thr435=) NC_000005.10:137634085:G:T Identity +NM_000176.3:c.1764C>T NP_000167.1:p.His588= NC_000005.10:143298795:G:A p.(His588=) NC_000005.10:143298795:G:A p.(His588=) NC_000005.10:143298795:G:A Identity +NM_000176.3:c.879G>A NP_000167.1:p.Lys293= NC_000005.10:143399960:C:T p.(Lys293=) NC_000005.10:143399960:C:T p.(Lys293=) NC_000005.10:143399960:C:T Identity +NM_024577.4:c.3834G>A NP_078853.2:p.Ala1278= NC_000005.10:149004743:C:T p.(Ala1278=) NC_000005.10:149004743:C:T p.(Ala1278=) NC_000005.10:149004743:C:T Identity +NM_000440.3:c.2424G>A NP_000431.2:p.Glu808= NC_000005.10:149863200:C:T p.(Glu808=) NC_000005.10:149863200:C:T p.(Glu808=) NC_000005.10:149863200:C:T Identity +NM_001017995.3:c.2124C>T NP_001017995.1:p.Arg708= NC_000005.10:172338980:G:A p.(Arg708=) NC_000005.10:172338980:G:A p.(Arg708=) NC_000005.10:172338980:G:A Identity +NM_001017995.3:c.1956G>A NP_001017995.1:p.Thr652= NC_000005.10:172339148:C:T p.(Thr652=) NC_000005.10:172339148:C:T p.(Thr652=) NC_000005.10:172339148:C:T Identity +NM_001017995.3:c.522C>T NP_001017995.1:p.Ser174= NC_000005.10:172362774:G:A p.(Ser174=) NC_000005.10:172362774:G:A p.(Ser174=) NC_000005.10:172362774:G:A Identity +NM_003052.5:c.1719A>G NP_003043.3:p.Leu573= NC_000005.10:177398084:A:G p.(Leu573=) NC_000005.10:177398084:A:G p.(Leu573=) NC_000005.10:177398084:A:G Identity +NM_014244.5:c.2730A>G NP_055059.2:p.Pro910= NC_000005.10:179126017:T:C p.(Pro910=) NC_000005.10:179126017:T:C p.(Pro910=) NC_000005.10:179126017:T:C Identity +NM_001384732.1:c.4719C>T NP_001371661.1:p.Asp1573= NC_000005.10:37183461:G:A p.(Asp1573=) NC_000005.10:37183461:G:A p.(Asp1573=) NC_000005.10:37183461:G:A Identity +NM_002203.4:c.3021T>G NP_002194.2:p.Thr1007= NC_000005.10:53080602:T:G p.(Thr1007=) NC_000005.10:53080602:T:G p.(Thr1007=) NC_000005.10:53080602:T:G Identity +NM_001271769.2:c.372A>G NP_001258698.1:p.Ala124= NC_000005.10:78227388:T:C p.(Ala124=) NC_000005.10:78227388:T:C p.(Ala124=) NC_000005.10:78227388:T:C Identity +NM_001374769.1:c.1125C>T NP_001361698.1:p.Leu375= NC_000006.12:100420831:G:A p.(Leu375=) NC_000006.12:100420831:G:A p.(Leu375=) NC_000006.12:100420831:G:A Identity +NM_001491.3:c.630T>G NP_001482.1:p.Gly210= NC_000006.12:10557052:T:G p.(Gly210=) NC_000006.12:10557052:T:G p.(Gly210=) NC_000006.12:10557052:T:G Identity +NM_000165.5:c.456G>A NP_000156.1:p.Leu152= NC_000006.12:121447302:G:A p.(Leu152=) NC_000006.12:121447302:G:A p.(Leu152=) NC_000006.12:121447302:G:A Identity +NM_033071.5:c.8592T>C NP_149062.2:p.His2864= NC_000006.12:152385754:A:G p.(His2864=) NC_000006.12:152385754:A:G p.(His2864=) NC_000006.12:152385754:A:G Identity +NM_001109809.5:c.798G>A NP_001103279.2:p.Lys266= NC_000006.12:29673312:C:T p.(Lys266=) NC_000006.12:29673312:C:T p.(Lys266=) NC_000006.12:29673312:C:T Identity +NM_001710.6:c.321C>T NP_001701.2:p.His107= NC_000006.12:31947028:C:T p.(His107=) NC_000006.12:31947028:C:T p.(His107=) NC_000006.12:31947028:C:T Identity +NM_001710.6:c.720G>A NP_001701.2:p.Glu240= NC_000006.12:31947802:G:A p.(Glu240=) NC_000006.12:31947802:G:A p.(Glu240=) NC_000006.12:31947802:G:A Identity +NM_006929.5:c.1890C>T NP_008860.4:p.Arg630= NC_000006.12:31964260:C:T p.(Arg630=) NC_000006.12:31964260:C:T p.(Arg630=) NC_000006.12:31964260:C:T Identity +NM_182548.4:c.366C>T NP_872354.1:p.Asn122= NC_000006.12:35806035:C:T p.(Asn122=) NC_000006.12:35806035:C:T p.(Asn122=) NC_000006.12:35806035:C:T Identity +NM_001145717.1:c.372C>T NP_001139189.2:p.Leu124= NC_000006.12:36291485:C:T p.(Leu124=) NC_000006.12:36291485:C:T p.(Leu124=) NC_000006.12:36291485:C:T Identity +NM_001145717.1:c.744C>T NP_001139189.2:p.Tyr248= NC_000006.12:36295392:C:T p.(Tyr248=) NC_000006.12:36295392:C:T p.(Tyr248=) NC_000006.12:36295392:C:T Identity +NM_001291969.2:c.894T>C NP_001278898.1:p.Leu298= NC_000006.12:43613680:T:C p.(Leu298=) NC_000006.12:43613680:T:C p.(Leu298=) NC_000006.12:43613680:T:C Identity +NM_001015051.4:c.663A>G NP_001015051.3:p.Val221= NC_000006.12:45438028:A:G p.(Val221=) NC_000006.12:45438028:A:G p.(Val221=) NC_000006.12:45438028:A:G Identity +NM_001386460.1:c.1185T>C NP_001373389.1:p.Asp395= NC_000007.14:101137802:T:C p.(Asp395=) NC_000007.14:101137802:T:C p.(Asp395=) NC_000007.14:101137802:T:C Identity +NM_005045.4:c.9172T>C NP_005036.2:p.Leu3058= NC_000007.14:103496546:A:G p.(Leu3058=) NC_000007.14:103496546:A:G p.(Leu3058=) NC_000007.14:103496546:A:G Identity +NM_005045.4:c.8673C>T NP_005036.2:p.Phe2891= NC_000007.14:103498246:G:A p.(Phe2891=) NC_000007.14:103498246:G:A p.(Phe2891=) NC_000007.14:103498246:G:A Identity +NM_001172766.3:c.1683T>C NP_001166237.1:p.Phe561= NC_000007.14:114662102:T:C p.(Phe561=) NC_000007.14:114662102:T:C p.(Phe561=) NC_000007.14:114662102:T:C Identity +NM_000083.3:c.369T>C NP_000074.3:p.Leu123= NC_000007.14:143320730:T:C p.(Leu123=) NC_000007.14:143320730:T:C p.(Leu123=) NC_000007.14:143320730:T:C Identity +NM_017890.5:c.3297A>C NP_060360.3:p.Thr1099= NC_000008.11:99442486:A:C p.(Thr1099=) NC_000008.11:99442486:A:C p.(Thr1099=) NC_000008.11:99442486:A:C Identity +NM_178857.6:c.6603A>T NP_849188.4:p.Ala2201= NC_000008.11:10607494:T:A p.(Ala2201=) NC_000008.11:10607494:T:A p.(Ala2201=) NC_000008.11:10607494:T:A Identity +NM_178857.6:c.2751G>A NP_849188.4:p.Ala917= NC_000008.11:10611346:C:T p.(Ala917=) NC_000008.11:10611346:C:T p.(Ala917=) NC_000008.11:10611346:C:T Identity +NM_178857.6:c.2643C>T NP_849188.4:p.Ala881= NC_000008.11:10611454:G:A p.(Ala881=) NC_000008.11:10611454:G:A p.(Ala881=) NC_000008.11:10611454:G:A Identity +NM_001715.3:c.153G>A NP_001706.2:p.Pro51= NC_000008.11:11546080:G:A p.(Pro51=) NC_000008.11:11546080:G:A p.(Pro51=) NC_000008.11:11546080:G:A Identity +NM_001330609.2:c.192C>T NP_001317538.1:p.Phe64= NC_000008.11:125078812:G:A p.(Phe64=) NC_000008.11:125078812:G:A p.(Phe64=) NC_000008.11:125078812:G:A Identity +NM_001135242.2:c.306C>T NP_001128714.1:p.Gly102= NC_000008.11:133262066:G:A p.(Gly102=) NC_000008.11:133262066:G:A p.(Gly102=) NC_000008.11:133262066:G:A Identity +NM_000498.3:c.945C>T NP_000489.3:p.Ser315= NC_000008.11:142914272:G:A p.(Ser315=) NC_000008.11:142914272:G:A p.(Ser315=) NC_000008.11:142914272:G:A Identity +NM_000498.3:c.529C>T NP_000489.3:p.Leu177= NC_000008.11:142915111:G:A p.(Leu177=) NC_000008.11:142915111:G:A p.(Leu177=) NC_000008.11:142915111:G:A Identity +NM_017767.3:c.398= NP_060237.3:p.Met133= NC_000008.11:144415810:A:A p.(Met133=) NC_000008.11:144415810:A: p.(Met133=) NC_000008.11:144415810:A:A Identity +NM_005144.5:c.2370T>C NP_005135.2:p.Asp790= NC_000008.11:22120955:A:G p.(Asp790=) NC_000008.11:22120955:A:G p.(Asp790=) NC_000008.11:22120955:A:G Identity +NM_001324112.2:c.1233G>A NP_001311041.1:p.Glu411= NC_000008.11:64604681:C:T p.(Glu411=) NC_000008.11:64604681:C:T p.(Glu411=) NC_000008.11:64604681:C:T Identity +NM_020361.5:c.1077G>A NP_065094.3:p.Gln359= NC_000008.11:67428095:C:T p.(Gln359=) NC_000008.11:67428095:C:T p.(Gln359=) NC_000008.11:67428095:C:T Identity +NM_001302884.2:c.360C>A NP_001289813.1:p.Ser120= NC_000009.12:97439262:C:A p.(Ser120=) NC_000009.12:97439262:C:A p.(Ser120=) NC_000009.12:97439262:C:A Identity +NM_005502.4:c.474G>A NP_005493.2:p.Leu158= NC_000009.12:104861747:C:T p.(Leu158=) NC_000009.12:104861747:C:T p.(Leu158=) NC_000009.12:104861747:C:T Identity +NM_005502.4:c.360C>T NP_005493.2:p.Thr120= NC_000009.12:104883099:G:A p.(Thr120=) NC_000009.12:104883099:G:A p.(Thr120=) NC_000009.12:104883099:G:A Identity +NM_000031.6:c.414C>T NP_000022.3:p.Asn138= NC_000009.12:113390659:G:A p.(Asn138=) NC_000009.12:113390659:G:A p.(Asn138=) NC_000009.12:113390659:G:A Identity +NM_001005373.4:c.249C>T NP_001005373.1:p.Ile83= NC_000009.12:127457389:C:T p.(Ile83=) NC_000009.12:127457389:C:T p.(Ile83=) NC_000009.12:127457389:C:T Identity +NM_000093.5:c.4275C>T NP_000084.3:p.Ile1425= NC_000009.12:134818699:C:T p.(Ile1425=) NC_000009.12:134818699:C:T p.(Ile1425=) NC_000009.12:134818699:C:T Identity +NM_016219.5:c.792C>T NP_057303.2:p.Tyr264= NC_000009.12:137099756:C:T p.(Tyr264=) NC_000009.12:137099756:C:T p.(Tyr264=) NC_000009.12:137099756:C:T Identity +NM_001379081.2:c.4377T>C NP_001366010.1:p.Asp1459= NC_000009.12:14784434:A:G p.(Asp1459=) NC_000009.12:14784434:A:G p.(Asp1459=) NC_000009.12:14784434:A:G Identity +NM_001379081.2:c.2358A>G NP_001366010.1:p.Lys786= NC_000009.12:14819421:T:C p.(Lys786=) NC_000009.12:14819421:T:C p.(Lys786=) NC_000009.12:14819421:T:C Identity +NM_001195622.2:c.2793C>T NP_001182551.1:p.Leu931= NC_000009.12:32541536:G:A p.(Leu931=) NC_000009.12:32541536:G:A p.(Leu931=) NC_000009.12:32541536:G:A Identity +LRG_1201t1:c.1960T>C LRG_1201p1:p.Leu654= NC_000009.12:69236206:T:C ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found +NM_001177310.2:c.930G>A NP_001170781.1:p.Val310= NC_000009.12:74821733:C:T p.(Val310=) NC_000009.12:74821733:C:T p.(Val310=) NC_000009.12:74821733:C:T Identity +NM_021154.5:c.921C>T NP_066977.1:p.Asp307= NC_000009.12:78329031:C:T p.(Asp307=) NC_000009.12:78329031:C:T p.(Asp307=) NC_000009.12:78329031:C:T Identity +NM_014271.4:c.1605G>T NP_055086.1:p.Thr535= NC_000023.11:29955333:G:T p.(Thr535=) NC_000023.11:29955333:G:T p.(Thr535=) NC_000023.11:29955333:G:T Identity +NM_001324139.2:c.1320T>A NP_001311068.1:p.Ala440= NC_000023.11:47448191:A:T p.(Ala440=) NC_000023.11:47448191:A:T p.(Ala440=) NC_000023.11:47448191:A:T Identity +NM_001109878.2:c.72C>T NP_001103348.1:p.Leu24= NC_000023.11:80022340:C:T p.(Leu24=) NC_000023.11:80022340:C:T p.(Leu24=) NC_000023.11:80022340:C:T Identity +NM_000091.5:c.2115T>A NP_000082.2:p.Pro705= NC_000002.12:227277542:T:A p.(Pro705=) NC_000002.12:227277542:T:A p.(Pro705=) NC_000002.12:227277542:T:A Identity +NM_001256442.2:c.1011C>T NP_001243371.1:p.Gly337= NC_000016.10:29814463:C:T p.(Gly337=) NC_000016.10:29814463:C:T p.(Gly337=) NC_000016.10:29814463:C:T Identity +NM_000051.4:c.3303G>A NP_000042.3:p.Lys1101= NC_000011.10:108279508:G:A p.(Lys1101=) NC_000011.10:108279508:G:A p.(Lys1101=) NC_000011.10:108279508:G:A Identity +NM_004329.3:c.1230C>T NP_004320.2:p.Pro410= NC_000010.11:86921582:C:T p.(Pro410=) NC_000010.11:86921582:C:T p.(Pro410=) NC_000010.11:86921582:C:T Identity +NM_017882.3:c.810C>G NP_060352.1:p.Leu270= NC_000015.10:68208265:G:C p.(Leu270=) NC_000015.10:68208265:G:C p.(Leu270=) NC_000015.10:68208265:G:C Identity +NM_000093.5:c.3912C>T NP_000084.3:p.Pro1304= NC_000009.12:134814801:C:T p.(Pro1304=) NC_000009.12:134814801:C:T p.(Pro1304=) NC_000009.12:134814801:C:T Identity +NM_001376.5:c.5700G>T NP_001367.2:p.Leu1900= NC_000014.9:102006153:G:T p.(Leu1900=) NC_000014.9:102006153:G:T p.(Leu1900=) NC_000014.9:102006153:G:T Identity +NM_001308164.2:c.1551A>G NP_001295093.1:p.Glu517= NC_000003.12:158665449:A:G p.(Glu517=) NC_000003.12:158665449:A:G p.(Glu517=) NC_000003.12:158665449:A:G Identity +NM_000833.5:c.1458C>A NP_000824.1:p.Gly486= NC_000016.10:9840974:G:T p.(Gly486=) NC_000016.10:9840974:G:T p.(Gly486=) NC_000016.10:9840974:G:T Identity +NM_002180.3:c.276C>T NP_002171.2:p.Tyr92= NC_000011.10:68908163:C:T p.(Tyr92=) NC_000011.10:68908163:C:T p.(Tyr92=) NC_000011.10:68908163:C:T Identity +NM_000218.3:c.1332G>A NP_000209.2:p.Thr444= NC_000011.10:2588792:G:A p.(Thr444=) NC_000011.10:2588792:G:A p.(Thr444=) NC_000011.10:2588792:G:A Identity +NM_001145901.2:c.582C>T NP_001139373.1:p.Val194= NC_000019.10:38921404:G:A p.(Val194=) NC_000019.10:38921404:G:A p.(Val194=) NC_000019.10:38921404:G:A Identity +NM_001145102.2:c.126G>A NP_001138574.1:p.Pro42= NC_000015.10:67165292:G:A p.(Pro42=) NC_000015.10:67165292:G:A p.(Pro42=) NC_000015.10:67165292:G:A Identity +NM_002755.4:c.834G>A NP_002746.1:p.Gln278= NC_000015.10:66485129:G:A p.(Gln278=) NC_000015.10:66485129:G:A p.(Gln278=) NC_000015.10:66485129:G:A Identity +NM_001378120.1:c.3603G>A NP_001365049.1:p.Ser1201= NC_000002.12:148485799:G:A p.(Ser1201=) NC_000002.12:148485799:G:A p.(Ser1201=) NC_000002.12:148485799:G:A Identity +NM_030662.4:c.240G>A NP_109587.1:p.Ala80= NC_000019.10:4117481:C:T p.(Ala80=) NC_000019.10:4117481:C:T p.(Ala80=) NC_000019.10:4117481:C:T Identity +NM_000038.6:c.3306C>T NP_000029.2:p.Tyr1102= NC_000005.10:112838899:C:T p.(Tyr1102=) NC_000005.10:112838899:C:T p.(Tyr1102=) NC_000005.10:112838899:C:T Identity +NM_000059.4:c.8836T>C NP_000050.3:p.Leu2946= NC_000013.11:32379397:T:C p.(Leu2946=) NC_000013.11:32379397:T:C p.(Leu2946=) NC_000013.11:32379397:T:C Identity +NM_001182.5:c.552C>T NP_001173.2:p.Pro184= NC_000005.10:126577176:G:A p.(Pro184=) NC_000005.10:126577176:G:A p.(Pro184=) NC_000005.10:126577176:G:A Identity +NM_004519.4:c.99G>A NP_004510.1:p.Ala33= NC_000008.11:132480433:C:T p.(Ala33=) NC_000008.11:132480433:C:T p.(Ala33=) NC_000008.11:132480433:C:T Identity +NM_000335.5:c.2700C>T NP_000326.2:p.Ile900= NC_000003.12:38585777:G:A p.(Ile900=) NC_000003.12:38585777:G:A p.(Ile900=) NC_000003.12:38585777:G:A Identity +NM_001008844.3:c.2643G>A NP_001008844.1:p.Leu881= NC_000006.12:7576305:G:A p.(Leu881=) NC_000006.12:7576305:G:A p.(Leu881=) NC_000006.12:7576305:G:A Identity +NM_001193333.3:c.336A>G NP_001180262.1:p.Pro112= NC_000016.10:30186829:A:G p.(Pro112=) NC_000016.10:30186829:A:G p.(Pro112=) NC_000016.10:30186829:A:G Identity +NM_001081640.2:c.5088T>G NP_001075109.1:p.Leu1696= NC_000008.11:47879637:A:C p.(Leu1696=) NC_000008.11:47879637:A:C p.(Leu1696=) NC_000008.11:47879637:A:C Identity +NM_001363813.1:c.1791G>A NP_001350742.1:p.Leu597= NC_000017.11:65536474:C:T p.(Leu597=) NC_000017.11:65536474:C:T p.(Leu597=) NC_000017.11:65536474:C:T Identity +NM_001081640.2:c.3759G>A NP_001075109.1:p.Thr1253= NC_000008.11:47893226:C:T p.(Thr1253=) NC_000008.11:47893226:C:T p.(Thr1253=) NC_000008.11:47893226:C:T Identity +NM_001128855.3:c.198A>C NP_001122327.1:p.Thr66= NC_000019.10:17338151:A:C p.(Thr66=) NC_000019.10:17338151:A:C p.(Thr66=) NC_000019.10:17338151:A:C Identity +NM_001167733.3:c.2613C>T NP_001161205.1:p.Asp871= NC_000006.12:30925950:C:T p.(Asp871=) NC_000006.12:30925950:C:T p.(Asp871=) NC_000006.12:30925950:C:T Identity +NM_006231.4:c.3156G>A NP_006222.2:p.Thr1052= NC_000012.12:132659413:C:T p.(Thr1052=) NC_000012.12:132659413:C:T p.(Thr1052=) NC_000012.12:132659413:C:T Identity +NM_000137.4:c.165C>T NP_000128.1:p.Leu55= NC_000015.10:80158142:C:T p.(Leu55=) NC_000015.10:80158142:C:T p.(Leu55=) NC_000015.10:80158142:C:T Identity +NM_001204830.2:c.315A>G NP_001191759.1:p.Thr105= NC_000002.12:99162271:A:G p.(Thr105=) NC_000002.12:99162271:A:G p.(Thr105=) NC_000002.12:99162271:A:G Identity +NM_000093.5:c.12T>C NP_000084.3:p.His4= NC_000009.12:134642198:T:C p.(His4=) NC_000009.12:134642198:T:C p.(His4=) NC_000009.12:134642198:T:C Identity +NM_000702.4:c.2427G>A NP_000693.1:p.Leu809= NC_000001.11:160135980:G:A p.(Leu809=) NC_000001.11:160135980:G:A p.(Leu809=) NC_000001.11:160135980:G:A Identity +NM_000038.6:c.5298T>C NP_000029.2:p.Asp1766= NC_000005.10:112840891:T:C p.(Asp1766=) NC_000005.10:112840891:T:C p.(Asp1766=) NC_000005.10:112840891:T:C Identity +NM_001291285.3:c.3687G>C NP_001278214.1:p.Val1229= NC_000004.12:125320097:G:C p.(Val1229=) NC_000004.12:125320097:G:C p.(Val1229=) NC_000004.12:125320097:G:C Identity +NM_004522.3:c.750C>T NP_004513.1:p.Asp250= NC_000002.12:148949873:C:T p.(Asp250=) NC_000002.12:148949873:C:T p.(Asp250=) NC_000002.12:148949873:C:T Identity +NM_001293212.2:c.711G>A NP_001280141.1:p.Leu237= NC_000006.12:30723712:G:A p.(Leu237=) NC_000006.12:30723712:G:A p.(Leu237=) NC_000006.12:30723712:G:A Identity +NM_001036.6:c.4296C>T NP_001027.3:p.Gly1432= NC_000015.10:33652870:C:T p.(Gly1432=) NC_000015.10:33652870:C:T p.(Gly1432=) NC_000015.10:33652870:C:T Identity +NM_001040113.2:c.1587C>T NP_001035202.1:p.Ile529= NC_000016.10:15757835:G:A p.(Ile529=) NC_000016.10:15757835:G:A p.(Ile529=) NC_000016.10:15757835:G:A Identity +NM_001999.4:c.6138G>T NP_001990.2:p.Gly2046= NC_000005.10:128300844:C:A p.(Gly2046=) NC_000005.10:128300844:C:A p.(Gly2046=) NC_000005.10:128300844:C:A Identity +NM_000059.4:c.1839A>G NP_000050.3:p.Leu613= NC_000013.11:32333316:A:G p.(Leu613=) NC_000013.11:32333316:A:G p.(Leu613=) NC_000013.11:32333316:A:G Identity +NM_001281737.2:c.486T>C NP_001268666.1:p.Gly162= NC_000004.12:158690367:T:C p.(Gly162=) NC_000004.12:158690367:T:C p.(Gly162=) NC_000004.12:158690367:T:C Identity +NM_001004127.3:c.1032T>G NP_001004127.2:p.Gly344= NC_000013.11:52024761:T:G p.(Gly344=) NC_000013.11:52024761:T:G p.(Gly344=) NC_000013.11:52024761:T:G Identity +NM_006231.4:c.1993C>A NP_006222.2:p.Arg665= NC_000012.12:132668667:G:T p.(Arg665=) NC_000012.12:132668667:G:T p.(Arg665=) NC_000012.12:132668667:G:T Identity +NM_001101.5:c.324C>T NP_001092.1:p.Ala108= NC_000007.14:5529199:G:A p.(Ala108=) NC_000007.14:5529199:G:A p.(Ala108=) NC_000007.14:5529199:G:A Identity +NM_001161587.2:c.984G>A NP_001155059.1:p.Thr328= NC_000019.10:48978150:C:T p.(Thr328=) NC_000019.10:48978150:C:T p.(Thr328=) NC_000019.10:48978150:C:T Identity +LRG_1168t1:c.468C>T LRG_1168p1:p.Ala156= NC_000020.11:34942510:G:A ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found ERR:AlignmentMapper(tx_ac=LRG_1168t1, alt_ac=LRG_1168t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1168t1, alt_ac=LRG_1168t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found +NM_006267.5:c.1209C>T NP_006258.3:p.Ser403= NC_000002.12:108749064:C:T p.(Ser403=) NC_000002.12:108749064:C:T p.(Ser403=) NC_000002.12:108749064:C:T Identity +NM_001126105.3:c.795C>T NP_001119577.1:p.Ile265= NC_000014.9:22776293:G:A p.(Ile265=) NC_000014.9:22776293:G:A p.(Ile265=) NC_000014.9:22776293:G:A Identity +NM_001167733.3:c.444G>A NP_001161205.1:p.Ser148= NC_000006.12:30917214:G:A p.(Ser148=) NC_000006.12:30917214:G:A p.(Ser148=) NC_000006.12:30917214:G:A Identity +NM_001172309.2:c.1614G>A NP_001165780.1:p.Thr538= NC_000001.11:77942606:G:A p.(Thr538=) NC_000001.11:77942606:G:A p.(Thr538=) NC_000001.11:77942606:G:A Identity +NM_001330504.2:c.534C>T NP_001317433.1:p.Asp178= NC_000016.10:5079067:C:T p.(Asp178=) NC_000016.10:5079067:C:T p.(Asp178=) NC_000016.10:5079067:C:T Identity +NM_000069.3:c.708G>C NP_000060.2:p.Thr236= NC_000001.11:201089449:C:G p.(Thr236=) NC_000001.11:201089449:C:G p.(Thr236=) NC_000001.11:201089449:C:G Identity +NM_001277971.2:c.795C>T NP_001264900.1:p.Asp265= NC_000008.11:43122618:C:T p.(Asp265=) NC_000008.11:43122618:C:T p.(Asp265=) NC_000008.11:43122618:C:T Identity +NM_001278716.2:c.429A>G NP_001265645.1:p.Leu143= NC_000006.12:98926559:T:C p.(Leu143=) NC_000006.12:98926559:T:C p.(Leu143=) NC_000006.12:98926559:T:C Identity +NM_004281.4:c.870C>A NP_004272.2:p.Pro290= NC_000010.11:119672616:C:A p.(Pro290=) NC_000010.11:119672616:C:A p.(Pro290=) NC_000010.11:119672616:C:A Identity +NM_178862.3:c.477A>G NP_849193.1:p.Thr159= NC_000003.12:31579861:A:G p.(Thr159=) NC_000003.12:31579861:A:G p.(Thr159=) NC_000003.12:31579861:A:G Identity +NM_002524.5:c.87A>G NP_002515.1:p.Val29= NC_000001.11:114716073:T:C p.(Val29=) NC_000001.11:114716073:T:C p.(Val29=) NC_000001.11:114716073:T:C Identity +NM_018136.5:c.7701T>C NP_060606.3:p.Tyr2567= NC_000001.11:197101549:A:G p.(Tyr2567=) NC_000001.11:197101549:A:G p.(Tyr2567=) NC_000001.11:197101549:A:G Identity +NM_001135659.3:c.4227G>A NP_001129131.1:p.Pro1409= NC_000002.12:50053291:C:T p.(Pro1409=) NC_000002.12:50053291:C:T p.(Pro1409=) NC_000002.12:50053291:C:T Identity +NM_001126131.2:c.3480C>T NP_001119603.1:p.Thr1160= NC_000015.10:89318542:G:A p.(Thr1160=) NC_000015.10:89318542:G:A p.(Thr1160=) NC_000015.10:89318542:G:A Identity +NM_001111125.3:c.3870T>C NP_001104595.1:p.Leu1290= NC_000023.11:53234815:A:G p.(Leu1290=) NC_000023.11:53234815:A:G p.(Leu1290=) NC_000023.11:53234815:A:G Identity +NM_001407571.1:c.3525C>T NP_001394500.1:p.Thr1175= NC_000017.11:43091792:G:A p.(Thr1175=) NC_000017.11:43091792:G:A p.(Thr1175=) NC_000017.11:43091792:G:A Identity +NM_006231.4:c.510C>A NP_006222.2:p.Ile170= NC_000012.12:132679564:G:T p.(Ile170=) NC_000012.12:132679564:G:T p.(Ile170=) NC_000012.12:132679564:G:T Identity +NM_001272003.2:c.873C>T NP_001258932.1:p.Cys291= NC_000009.12:135759831:C:T p.(Cys291=) NC_000009.12:135759831:C:T p.(Cys291=) NC_000009.12:135759831:C:T Identity +NM_001378120.1:c.1911G>T NP_001365049.1:p.Gly637= NC_000002.12:148469853:G:T p.(Gly637=) NC_000002.12:148469853:G:T p.(Gly637=) NC_000002.12:148469853:G:T Identity +NM_032043.3:c.2388A>G NP_114432.2:p.Leu796= NC_000017.11:61716054:T:C p.(Leu796=) NC_000017.11:61716054:T:C p.(Leu796=) NC_000017.11:61716054:T:C Identity +NM_005431.2:c.582G>A NP_005422.1:p.Thr194= NC_000007.14:152648902:C:T p.(Thr194=) NC_000007.14:152648902:C:T p.(Thr194=) NC_000007.14:152648902:C:T Identity +NM_001363813.1:c.135C>T NP_001350742.1:p.Val45= NC_000017.11:65558485:G:A p.(Val45=) NC_000017.11:65558485:G:A p.(Val45=) NC_000017.11:65558485:G:A Identity +NM_006231.4:c.4026C>T NP_006222.2:p.Ala1342= NC_000012.12:132649051:G:A p.(Ala1342=) NC_000012.12:132649051:G:A p.(Ala1342=) NC_000012.12:132649051:G:A Identity +NM_001127214.4:c.411C>T NP_001120686.1:p.Val137= NC_000016.10:89101091:C:T p.(Val137=) NC_000016.10:89101091:C:T p.(Val137=) NC_000016.10:89101091:C:T Identity +NM_001165962.2:c.2283C>T NP_001159434.1:p.Gly761= NC_000017.11:12992895:G:A p.(Gly761=) NC_000017.11:12992895:G:A p.(Gly761=) NC_000017.11:12992895:G:A Identity +NM_000051.4:c.4332G>C NP_000042.3:p.Leu1444= NC_000011.10:108289696:G:C p.(Leu1444=) NC_000011.10:108289696:G:C p.(Leu1444=) NC_000011.10:108289696:G:C Identity +NM_001164232.2:c.558G>A NP_001157704.1:p.Thr186= NC_000008.11:38238144:G:A p.(Thr186=) NC_000008.11:38238144:G:A p.(Thr186=) NC_000008.11:38238144:G:A Identity +NM_014908.4:c.159C>G NP_055723.1:p.Ala53= NC_000009.12:128947144:G:C p.(Ala53=) NC_000009.12:128947144:G:C p.(Ala53=) NC_000009.12:128947144:G:C Identity +NM_001042572.3:c.984G>A NP_001036037.1:p.Gln328= NC_000015.10:92942999:G:A p.(Gln328=) NC_000015.10:92942999:G:A p.(Gln328=) NC_000015.10:92942999:G:A Identity +NM_000292.3:c.3345G>A NP_000283.1:p.Pro1115= NC_000023.11:18894395:C:T p.(Pro1115=) NC_000023.11:18894395:C:T p.(Pro1115=) NC_000023.11:18894395:C:T Identity +NM_001321851.1:c.3261A>G NP_001308780.1:p.Gln1087= NC_000014.9:92004711:T:C p.(Gln1087=) NC_000014.9:92004711:T:C p.(Gln1087=) NC_000014.9:92004711:T:C Identity +NM_000540.3:c.6789C>T NP_000531.2:p.Ile2263= NC_000019.10:38496533:C:T p.(Ile2263=) NC_000019.10:38496533:C:T p.(Ile2263=) NC_000019.10:38496533:C:T Identity +NM_001258392.3:c.1429C>T NP_001245321.1:p.Leu477= NC_000011.10:72295548:G:A p.(Leu477=) NC_000011.10:72295548:G:A p.(Leu477=) NC_000011.10:72295548:G:A Identity +NM_001256850.1:c.81612C>T NP_001243779.1:p.Thr27204= NC_000002.12:178559596:G:A p.(Thr27204=) NC_000002.12:178559596:G:A p.(Thr27204=) NC_000002.12:178559596:G:A Identity +NM_006231.4:c.6273C>T NP_006222.2:p.Pro2091= NC_000012.12:132632371:G:A p.(Pro2091=) NC_000012.12:132632371:G:A p.(Pro2091=) NC_000012.12:132632371:G:A Identity +NM_001958.5:c.357C>T NP_001949.1:p.Gly119= NC_000020.11:63495068:G:A p.(Gly119=) NC_000020.11:63495068:G:A p.(Gly119=) NC_000020.11:63495068:G:A Identity +NM_001386339.1:c.5151G>A NP_001373268.1:p.Ser1717= NC_000011.10:9785300:C:T p.(Ser1717=) NC_000011.10:9785300:C:T p.(Ser1717=) NC_000011.10:9785300:C:T Identity +NM_001005360.3:c.1449G>A NP_001005360.1:p.Gln483= NC_000019.10:10802313:G:A p.(Gln483=) NC_000019.10:10802313:G:A p.(Gln483=) NC_000019.10:10802313:G:A Identity +NM_001374691.1:c.975G>A NP_001361620.1:p.Glu325= NC_000009.12:131518497:G:A p.(Glu325=) NC_000009.12:131518497:G:A p.(Glu325=) NC_000009.12:131518497:G:A Identity +NM_001040113.2:c.5074T>C NP_001035202.1:p.Leu1692= NC_000016.10:15719613:A:G p.(Leu1692=) NC_000016.10:15719613:A:G p.(Leu1692=) NC_000016.10:15719613:A:G Identity +NM_013382.7:c.1206A>C NP_037514.2:p.Pro402= NC_000014.9:77288808:T:G p.(Pro402=) NC_000014.9:77288808:T:G p.(Pro402=) NC_000014.9:77288808:T:G Identity +NM_001202554.2:c.390T>C NP_001189483.1:p.Ala130= NC_000001.11:26794423:T:C p.(Ala130=) NC_000001.11:26794423:T:C p.(Ala130=) NC_000001.11:26794423:T:C Identity +NM_012213.3:c.1191G>A NP_036345.2:p.Pro397= NC_000016.10:83915197:G:A p.(Pro397=) NC_000016.10:83915197:G:A p.(Pro397=) NC_000016.10:83915197:G:A Identity +NM_001103.4:c.1293G>A NP_001094.1:p.Ser431= NC_000001.11:236744662:G:A p.(Ser431=) NC_000001.11:236744662:G:A p.(Ser431=) NC_000001.11:236744662:G:A Identity +NM_003283.6:c.156G>A NP_003274.3:p.Pro52= NC_000019.10:55141892:C:T p.(Pro52=) NC_000019.10:55141892:C:T p.(Pro52=) NC_000019.10:55141892:C:T Identity +NM_001286075.2:c.495C>T NP_001273004.1:p.Arg165= NC_000016.10:28887663:C:T p.(Arg165=) NC_000016.10:28887663:C:T p.(Arg165=) NC_000016.10:28887663:C:T Identity +NM_133379.5:c.12759T>C NP_596870.2:p.Tyr4253= NC_000002.12:178749640:A:G p.(Tyr4253=) NC_000002.12:178749640:A:G p.(Tyr4253=) NC_000002.12:178749640:A:G Identity +NM_001144996.2:c.3384C>T NP_001138468.1:p.Pro1128= NC_000012.12:55685099:G:A p.(Pro1128=) NC_000012.12:55685099:G:A p.(Pro1128=) NC_000012.12:55685099:G:A Identity +NM_000540.3:c.5439G>A NP_000531.2:p.Arg1813= NC_000019.10:38486093:G:A p.(Arg1813=) NC_000019.10:38486093:G:A p.(Arg1813=) NC_000019.10:38486093:G:A Identity +NM_004975.4:c.630G>A NP_004966.1:p.Thr210= NC_000020.11:49374929:C:T p.(Thr210=) NC_000020.11:49374929:C:T p.(Thr210=) NC_000020.11:49374929:C:T Identity +NM_000059.4:c.1836A>G NP_000050.3:p.Glu612= NC_000013.11:32333313:A:G p.(Glu612=) NC_000013.11:32333313:A:G p.(Glu612=) NC_000013.11:32333313:A:G Identity +NM_002949.4:c.285C>T NP_002940.2:p.Val95= NC_000017.11:81704655:C:T p.(Val95=) NC_000017.11:81704655:C:T p.(Val95=) NC_000017.11:81704655:C:T Identity +NM_001039885.3:c.573C>T NP_001034974.1:p.Cys191= NC_000019.10:46756022:C:T p.(Cys191=) NC_000019.10:46756022:C:T p.(Cys191=) NC_000019.10:46756022:C:T Identity +NM_001202554.2:c.783C>T NP_001189483.1:p.Thr261= NC_000001.11:26794816:C:T p.(Thr261=) NC_000001.11:26794816:C:T p.(Thr261=) NC_000001.11:26794816:C:T Identity +NM_001029896.2:c.567T>C NP_001025067.1:p.Asn189= NC_000023.11:49075702:A:G p.(Asn189=) NC_000023.11:49075702:A:G p.(Asn189=) NC_000023.11:49075702:A:G Identity +NM_001130823.3:c.2010C>T NP_001124295.1:p.Gly670= NC_000019.10:10154301:G:A p.(Gly670=) NC_000019.10:10154301:G:A p.(Gly670=) NC_000019.10:10154301:G:A Identity +NM_000052.7:c.1273C>T NP_000043.4:p.Leu425= NC_000023.11:77989894:C:T p.(Leu425=) NC_000023.11:77989894:C:T p.(Leu425=) NC_000023.11:77989894:C:T Identity +NM_033071.5:c.11154C>G NP_149062.2:p.Thr3718= NC_000006.12:152353316:G:C p.(Thr3718=) NC_000006.12:152353316:G:C p.(Thr3718=) NC_000006.12:152353316:G:C Identity +NM_001256442.2:c.357T>G NP_001243371.1:p.Thr119= NC_000016.10:29813410:T:G p.(Thr119=) NC_000016.10:29813410:T:G p.(Thr119=) NC_000016.10:29813410:T:G Identity +NM_001365536.1:c.3540C>T NP_001352465.1:p.Asn1180= NC_000002.12:166242588:G:A p.(Asn1180=) NC_000002.12:166242588:G:A p.(Asn1180=) NC_000002.12:166242588:G:A Identity +NM_001363602.2:c.138G>A NP_001350531.1:p.Leu46= NC_000019.10:1388847:G:A p.(Leu46=) NC_000019.10:1388847:G:A p.(Leu46=) NC_000019.10:1388847:G:A Identity +NM_000540.3:c.123C>T NP_000531.2:p.Phe41= NC_000019.10:38440821:C:T p.(Phe41=) NC_000019.10:38440821:C:T p.(Phe41=) NC_000019.10:38440821:C:T Identity +NM_001122633.3:c.1437G>A NP_001116105.2:p.Ala479= NC_000002.12:210599448:G:A p.(Ala479=) NC_000002.12:210599448:G:A p.(Ala479=) NC_000002.12:210599448:G:A Identity +NM_001321309.2:c.4527C>T NP_001308238.1:p.Phe1509= NC_000003.12:123629532:G:A p.(Phe1509=) NC_000003.12:123629532:G:A p.(Phe1509=) NC_000003.12:123629532:G:A Identity +NM_001352773.2:c.624C>T NP_001339702.1:p.Ile208= NC_000017.11:41769051:G:A p.(Ile208=) NC_000017.11:41769051:G:A p.(Ile208=) NC_000017.11:41769051:G:A Identity +NM_000540.3:c.3441C>T NP_000531.2:p.Val1147= NC_000019.10:38469024:C:T p.(Val1147=) NC_000019.10:38469024:C:T p.(Val1147=) NC_000019.10:38469024:C:T Identity +NM_002291.3:c.3447C>T NP_002282.2:p.Gly1149= NC_000007.14:107940302:G:A p.(Gly1149=) NC_000007.14:107940302:G:A p.(Gly1149=) NC_000007.14:107940302:G:A Identity +NM_001365684.2:c.4233T>C NP_001352613.2:p.His1411= NC_000005.10:177260127:T:C p.(His1411=) NC_000005.10:177260127:T:C p.(His1411=) NC_000005.10:177260127:T:C Identity +NM_005334.3:c.3018T>C NP_005325.2:p.Pro1006= NC_000023.11:153955380:A:G p.(Pro1006=) NC_000023.11:153955380:A:G p.(Pro1006=) NC_000023.11:153955380:A:G Identity +NM_000249.4:c.1986T>C NP_000240.1:p.Thr662= NC_000003.12:37048605:T:C p.(Thr662=) NC_000003.12:37048605:T:C p.(Thr662=) NC_000003.12:37048605:T:C Identity +NM_001999.4:c.2856G>T NP_001990.2:p.Thr952= NC_000005.10:128349961:C:A p.(Thr952=) NC_000005.10:128349961:C:A p.(Thr952=) NC_000005.10:128349961:C:A Identity +NM_004589.4:c.702C>T NP_004580.1:p.Val234= NC_000017.11:10686795:G:A p.(Val234=) NC_000017.11:10686795:G:A p.(Val234=) NC_000017.11:10686795:G:A Identity +NM_000251.3:c.2343A>C NP_000242.1:p.Ala781= NC_000002.12:47478403:A:C p.(Ala781=) NC_000002.12:47478403:A:C p.(Ala781=) NC_000002.12:47478403:A:C Identity +NM_002471.4:c.4560A>G NP_002462.2:p.Glu1520= NC_000014.9:23387618:T:C p.(Glu1520=) NC_000014.9:23387618:T:C p.(Glu1520=) NC_000014.9:23387618:T:C Identity +NM_014908.4:c.1467G>T NP_055723.1:p.Leu489= NC_000009.12:128945836:C:A p.(Leu489=) NC_000009.12:128945836:C:A p.(Leu489=) NC_000009.12:128945836:C:A Identity +NM_000445.5:c.6837C>T NP_000436.2:p.Arg2279= NC_000008.11:143923172:G:A p.(Arg2279=) NC_000008.11:143923172:G:A p.(Arg2279=) NC_000008.11:143923172:G:A Identity +NM_001136193.2:c.1080T>C NP_001129665.1:p.Leu360= NC_000002.12:206771982:T:C p.(Leu360=) NC_000002.12:206771982:T:C p.(Leu360=) NC_000002.12:206771982:T:C Identity +NM_032043.3:c.2154G>A NP_114432.2:p.Glu718= NC_000017.11:61744534:C:T p.(Glu718=) NC_000017.11:61744534:C:T p.(Glu718=) NC_000017.11:61744534:C:T Identity +NM_000722.4:c.2869C>T NP_000713.2:p.Leu957= NC_000007.14:81961990:G:A p.(Leu957=) NC_000007.14:81961990:G:A p.(Leu957=) NC_000007.14:81961990:G:A Identity +NM_001164507.2:c.4398A>G NP_001157979.2:p.Ala1466= NC_000002.12:151671130:T:C p.(Ala1466=) NC_000002.12:151671130:T:C p.(Ala1466=) NC_000002.12:151671130:T:C Identity +NM_006231.4:c.6255G>A NP_006222.2:p.Glu2085= NC_000012.12:132632389:C:T p.(Glu2085=) NC_000012.12:132632389:C:T p.(Glu2085=) NC_000012.12:132632389:C:T Identity +NM_000088.4:c.2559T>A NP_000079.2:p.Ile853= NC_000017.11:50190000:A:T p.(Ile853=) NC_000017.11:50190000:A:T p.(Ile853=) NC_000017.11:50190000:A:T Identity +NM_001372031.1:c.870C>T NP_001358960.1:p.Leu290= NC_000011.10:112037354:C:T p.(Leu290=) NC_000011.10:112037354:C:T p.(Leu290=) NC_000011.10:112037354:C:T Identity +NM_001122633.3:c.2454A>G NP_001116105.2:p.Pro818= NC_000002.12:210612178:A:G p.(Pro818=) NC_000002.12:210612178:A:G p.(Pro818=) NC_000002.12:210612178:A:G Identity +NM_006231.4:c.3651C>T NP_006222.2:p.Leu1217= NC_000012.12:132649820:G:A p.(Leu1217=) NC_000012.12:132649820:G:A p.(Leu1217=) NC_000012.12:132649820:G:A Identity +NM_000748.3:c.1287C>T NP_000739.1:p.Asp429= NC_000001.11:154572109:C:T p.(Asp429=) NC_000001.11:154572109:C:T p.(Asp429=) NC_000001.11:154572109:C:T Identity +NM_001048171.2:c.1524C>T NP_001041636.2:p.His508= NC_000001.11:45329347:G:A p.(His508=) NC_000001.11:45329347:G:A p.(His508=) NC_000001.11:45329347:G:A Identity +NM_024334.3:c.96C>T NP_077310.1:p.Thr32= NC_000003.12:14129494:C:T p.(Thr32=) NC_000003.12:14129494:C:T p.(Thr32=) NC_000003.12:14129494:C:T Identity +NM_024675.4:c.1350_1355del NP_078951.2:p.450NL[1] NC_000016.10:23635190:TTTAAATTT:TTT p.(Asn452_Leu453del) NC_000016.10:23635190:TTTAAATTT:TTT p.(Asn452_Leu453del) NC_000016.10:23635190:TTTAAA: Analogous +NM_173628.4:c.3834A>G NP_775899.3:p.Leu1278= NC_000017.11:78525038:T:C p.(Leu1278=) NC_000017.11:78525038:T:C p.(Leu1278=) NC_000017.11:78525038:T:C Identity +NM_001372.4:c.11982A>G NP_001363.2:p.Pro3994= NC_000017.11:11929969:A:G p.(Pro3994=) NC_000017.11:11929969:A:G p.(Pro3994=) NC_000017.11:11929969:A:G Identity +NM_175850.3:c.27C>T NP_787046.1:p.Ser9= NC_000020.11:32780141:C:T p.(Ser9=) NC_000020.11:32780141:C:T p.(Ser9=) NC_000020.11:32780141:C:T Identity +NM_001368719.1:c.207C>G NP_001355648.1:p.Pro69= NC_000015.10:32730896:C:G p.(Pro69=) NC_000015.10:32730896:C:G p.(Pro69=) NC_000015.10:32730896:C:G Identity +NM_001127714.3:c.5736T>C NP_001121186.1:p.Ala1912= NC_000001.11:41513484:A:G p.(Ala1912=) NC_000001.11:41513484:A:G p.(Ala1912=) NC_000001.11:41513484:A:G Identity +NM_001271927.3:c.2988T>A NP_001258856.1:p.Ile996= NC_000009.12:83853799:A:T p.(Ile996=) NC_000009.12:83853799:A:T p.(Ile996=) NC_000009.12:83853799:A:T Identity +NM_002458.3:c.14718T>C NP_002449.2:p.Pro4906= NC_000011.10:1251597:T:C p.(Pro4906=) NC_000011.10:1251597:T:C p.(Pro4906=) NC_000011.10:1251597:T:C Identity +NM_001008660.3:c.522G>A NP_001008660.1:p.Gln174= NC_000011.10:86014893:C:T p.(Gln174=) NC_000011.10:86014893:C:T p.(Gln174=) NC_000011.10:86014893:C:T Identity +NM_004064.5:c.297C>T NP_004055.1:p.Cys99= NC_000012.12:12718135:C:T p.(Cys99=) NC_000012.12:12718135:C:T p.(Cys99=) NC_000012.12:12718135:C:T Identity +NM_004304.5:c.513C>T NP_004295.2:p.Ser171= NC_000002.12:29920146:G:A p.(Ser171=) NC_000002.12:29920146:G:A p.(Ser171=) NC_000002.12:29920146:G:A Identity +NM_000143.4:c.207C>T NP_000134.2:p.Gly69= NC_000001.11:241517241:G:A p.(Gly69=) NC_000001.11:241517241:G:A p.(Gly69=) NC_000001.11:241517241:G:A Identity +NM_001135599.4:c.1224C>T NP_001129071.1:p.Cys408= NC_000001.11:218441256:C:T p.(Cys408=) NC_000001.11:218441256:C:T p.(Cys408=) NC_000001.11:218441256:C:T Identity +NM_001001890.3:c.449_451dup NP_001001890.1:p.Ile150dup NC_000021.9:34859554:TGATG:TGATGATG p.(Ile150dup) NC_000021.9:34859554:TGATG:TGATGATG p.(Ile150dup) ERR:SPDI Identity +NM_000244.4:c.1425G>A NP_000235.3:p.Pro475= NC_000011.10:64804756:C:T p.(Pro475=) NC_000011.10:64804756:C:T p.(Pro475=) NC_000011.10:64804756:C:T Identity +NM_004304.5:c.2094G>A NP_004295.2:p.Gln698= NC_000002.12:29251214:C:T p.(Gln698=) NC_000002.12:29251214:C:T p.(Gln698=) NC_000002.12:29251214:C:T Identity +NM_004304.5:c.2532T>C NP_004295.2:p.Gly844= NC_000002.12:29232403:A:G p.(Gly844=) NC_000002.12:29232403:A:G p.(Gly844=) NC_000002.12:29232403:A:G Identity +NM_001256850.1:c.88452T>C NP_001243779.1:p.Thr29484= NC_000002.12:178548250:A:G p.(Thr29484=) NC_000002.12:178548250:A:G p.(Thr29484=) NC_000002.12:178548250:A:G Identity +NM_001256850.1:c.31074T>C NP_001243779.1:p.Pro10358= NC_000002.12:178689122:A:G p.(Pro10358=) NC_000002.12:178689122:A:G p.(Pro10358=) NC_000002.12:178689122:A:G Identity +NM_001256850.1:c.474C>G NP_001243779.1:p.Leu158= NC_000002.12:178800503:G:C p.(Leu158=) NC_000002.12:178800503:G:C p.(Leu158=) NC_000002.12:178800503:G:C Identity +NM_001256850.1:c.64845T>C NP_001243779.1:p.Ser21615= NC_000002.12:178576363:A:G p.(Ser21615=) NC_000002.12:178576363:A:G p.(Ser21615=) NC_000002.12:178576363:A:G Identity +NM_000057.4:c.2691C>T NP_000048.1:p.Ser897= NC_000015.10:90784948:C:T p.(Ser897=) NC_000015.10:90784948:C:T p.(Ser897=) NC_000015.10:90784948:C:T Identity +NM_000057.4:c.3936T>C NP_000048.1:p.Ala1312= NC_000015.10:90811265:T:C p.(Ala1312=) NC_000015.10:90811265:T:C p.(Ala1312=) NC_000015.10:90811265:T:C Identity +NM_000238.4:c.1980G>A NP_000229.1:p.Ser660= NC_000007.14:150951085:C:T p.(Ser660=) NC_000007.14:150951085:C:T p.(Ser660=) NC_000007.14:150951085:C:T Identity +NM_006231.4:c.6411G>A NP_006222.2:p.Glu2137= NC_000012.12:132626236:C:T p.(Glu2137=) NC_000012.12:132626236:C:T p.(Glu2137=) NC_000012.12:132626236:C:T Identity +NM_006231.4:c.1614C>A NP_006222.2:p.Thr538= NC_000012.12:132672698:G:T p.(Thr538=) NC_000012.12:132672698:G:T p.(Thr538=) NC_000012.12:132672698:G:T Identity +NM_006231.4:c.2091C>A NP_006222.2:p.Pro697= NC_000012.12:132668437:G:T p.(Pro697=) NC_000012.12:132668437:G:T p.(Pro697=) NC_000012.12:132668437:G:T Identity +NM_006231.4:c.3036C>T NP_006222.2:p.Tyr1012= NC_000012.12:132660992:G:A p.(Tyr1012=) NC_000012.12:132660992:G:A p.(Tyr1012=) NC_000012.12:132660992:G:A Identity +NM_006231.4:c.2598C>T NP_006222.2:p.Cys866= NC_000012.12:132664111:G:A p.(Cys866=) NC_000012.12:132664111:G:A p.(Cys866=) NC_000012.12:132664111:G:A Identity +NM_002386.4:c.333G>A NP_002377.4:p.Ala111= NC_000016.10:89919590:G:A p.(Ala111=) NC_000016.10:89919590:G:A p.(Ala111=) NC_000016.10:89919590:G:A Identity +NM_022114.4:c.1545G>A NP_071397.3:p.Pro515= NC_000001.11:3411741:G:A p.(Pro515=) NC_000001.11:3411741:G:A p.(Pro515=) NC_000001.11:3411741:G:A Identity +NM_001178133.2:c.987T>C NP_001171604.1:p.Pro329= NC_000010.11:102599508:T:C p.(Pro329=) NC_000010.11:102599508:T:C p.(Pro329=) NC_000010.11:102599508:T:C Identity +NM_001178133.2:c.1113G>A NP_001171604.1:p.Leu371= NC_000010.11:102615357:G:A p.(Leu371=) NC_000010.11:102615357:G:A p.(Leu371=) NC_000010.11:102615357:G:A Identity +NM_003924.4:c.186G>T NP_003915.2:p.Pro62= NC_000004.12:41748424:C:A p.(Pro62=) NC_000004.12:41748424:C:A p.(Pro62=) NC_000004.12:41748424:C:A Identity +NM_000335.5:c.3132C>T NP_000326.2:p.Pro1044= NC_000003.12:38581026:G:A p.(Pro1044=) NC_000003.12:38581026:G:A p.(Pro1044=) NC_000003.12:38581026:G:A Identity +NM_001317184.2:c.561G>A NP_001304113.1:p.Lys187= NC_000016.10:68808721:G:A p.(Lys187=) NC_000016.10:68808721:G:A p.(Lys187=) NC_000016.10:68808721:G:A Identity +NM_000465.4:c.552C>T NP_000456.2:p.Ser184= NC_000002.12:214781321:G:A p.(Ser184=) NC_000002.12:214781321:G:A p.(Ser184=) NC_000002.12:214781321:G:A Identity +LRG_1191t1:c.1110A>G LRG_1191p1:p.Thr370= NC_000020.11:10651590:T:C ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_138694.4:c.3804C>T NP_619639.3:p.Ala1268= NC_000006.12:52026005:G:A p.(Ala1268=) NC_000006.12:52026005:G:A p.(Ala1268=) NC_000006.12:52026005:G:A Identity +NM_004260.4:c.3072A>G NP_004251.4:p.Thr1024= NC_000008.11:144512307:T:C p.(Thr1024=) NC_000008.11:144512307:T:C p.(Thr1024=) NC_000008.11:144512307:T:C Identity +NM_004260.4:c.1530G>C NP_004251.4:p.Leu510= NC_000008.11:144515025:C:G p.(Leu510=) NC_000008.11:144515025:C:G p.(Leu510=) NC_000008.11:144515025:C:G Identity +NM_004260.4:c.2280C>T NP_004251.4:p.Phe760= NC_000008.11:144513400:G:A p.(Phe760=) NC_000008.11:144513400:G:A p.(Phe760=) NC_000008.11:144513400:G:A Identity +NM_004260.4:c.2235C>T NP_004251.4:p.His745= NC_000008.11:144513445:G:A p.(His745=) NC_000008.11:144513445:G:A p.(His745=) NC_000008.11:144513445:G:A Identity +NM_001347828.2:c.3177G>A NP_001334757.1:p.Leu1059= NC_000004.12:54290533:G:A p.(Leu1059=) NC_000004.12:54290533:G:A p.(Leu1059=) NC_000004.12:54290533:G:A Identity +NM_000051.4:c.3024T>G NP_000042.3:p.Ser1008= NC_000011.10:108271352:T:G p.(Ser1008=) NC_000011.10:108271352:T:G p.(Ser1008=) NC_000011.10:108271352:T:G Identity +NM_000051.4:c.1779A>G NP_000042.3:p.Thr593= NC_000011.10:108252007:A:G p.(Thr593=) NC_000011.10:108252007:A:G p.(Thr593=) NC_000011.10:108252007:A:G Identity +NM_000051.4:c.1605A>G NP_000042.3:p.Ser535= NC_000011.10:108251069:A:G p.(Ser535=) NC_000011.10:108251069:A:G p.(Ser535=) NC_000011.10:108251069:A:G Identity +NM_001256849.1:c.3087C>T NP_001243778.1:p.Cys1029= NC_000019.10:50417063:C:T p.(Cys1029=) NC_000019.10:50417063:C:T p.(Cys1029=) NC_000019.10:50417063:C:T Identity +NM_001113378.2:c.1704T>C NP_001106849.1:p.His568= NC_000015.10:89285100:T:C p.(His568=) NC_000015.10:89285100:T:C p.(His568=) NC_000015.10:89285100:T:C Identity +NM_005732.4:c.2586T>C NP_005723.2:p.His862= NC_000005.10:132604866:T:C p.(His862=) NC_000005.10:132604866:T:C p.(His862=) NC_000005.10:132604866:T:C Identity +NM_005732.4:c.861T>C NP_005723.2:p.Ser287= NC_000005.10:132587665:T:C p.(Ser287=) NC_000005.10:132587665:T:C p.(Ser287=) NC_000005.10:132587665:T:C Identity +NM_000251.3:c.162C>T NP_000242.1:p.Ala54= NC_000002.12:47403352:C:T p.(Ala54=) NC_000002.12:47403352:C:T p.(Ala54=) NC_000002.12:47403352:C:T Identity +NM_005236.3:c.718C>T NP_005227.1:p.Leu240= NC_000016.10:13928160:C:T p.(Leu240=) NC_000016.10:13928160:C:T p.(Leu240=) NC_000016.10:13928160:C:T Identity +NM_001128844.3:c.3444G>A NP_001122316.1:p.Glu1148= NC_000019.10:11030790:G:A p.(Glu1148=) NC_000019.10:11030790:G:A p.(Glu1148=) NC_000019.10:11030790:G:A Identity +NM_001128849.3:c.4200A>C NP_001122321.1:p.Thr1400= NC_000019.10:11039486:A:C p.(Thr1400=) NC_000019.10:11039486:A:C p.(Thr1400=) NC_000019.10:11039486:A:C Identity +NM_001128844.3:c.4434A>G NP_001122316.1:p.Gly1478= NC_000019.10:11058263:A:G p.(Gly1478=) NC_000019.10:11058263:A:G p.(Gly1478=) NC_000019.10:11058263:A:G Identity +NM_001363813.1:c.396A>G NP_001350742.1:p.Lys132= NC_000017.11:65558224:T:C p.(Lys132=) NC_000017.11:65558224:T:C p.(Lys132=) NC_000017.11:65558224:T:C Identity +NM_001363813.1:c.1188G>A NP_001350742.1:p.Gln396= NC_000017.11:65538214:C:T p.(Gln396=) NC_000017.11:65538214:C:T p.(Gln396=) NC_000017.11:65538214:C:T Identity +NM_001363813.1:c.1125C>T NP_001350742.1:p.Ile375= NC_000017.11:65538277:G:A p.(Ile375=) NC_000017.11:65538277:G:A p.(Ile375=) NC_000017.11:65538277:G:A Identity +NM_001127384.3:c.429T>C NP_001120856.1:p.Asp143= NC_000010.11:67539532:A:G p.(Asp143=) NC_000010.11:67539532:A:G p.(Asp143=) NC_000010.11:67539532:A:G Identity +LRG_1122t1:c.2124C>T LRG_1122p1:p.Tyr708= NC_000009.12:136514592:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001127889.5:c.318T>C NP_001121361.1:p.Phe106= NC_000015.10:64974735:A:G p.(Phe106=) NC_000015.10:64974735:A:G p.(Phe106=) NC_000015.10:64974735:A:G Identity +NM_017882.3:c.912C>T NP_060352.1:p.Thr304= NC_000015.10:68208163:G:A p.(Thr304=) NC_000015.10:68208163:G:A p.(Thr304=) NC_000015.10:68208163:G:A Identity +NM_000086.2:c.1191C>T NP_000077.1:p.Ala397= NC_000016.10:28477742:G:A p.(Ala397=) NC_000016.10:28477742:G:A p.(Ala397=) NC_000016.10:28477742:G:A Identity +NM_001407571.1:c.153A>G NP_001394500.1:p.Glu51= NC_000017.11:43104199:T:C p.(Glu51=) NC_000017.11:43104199:T:C p.(Glu51=) NC_000017.11:43104199:T:C Identity +NM_001407571.1:c.591C>T NP_001394500.1:p.Asn197= NC_000017.11:43094726:G:A p.(Asn197=) NC_000017.11:43094726:G:A p.(Asn197=) NC_000017.11:43094726:G:A Identity +NM_001353229.2:c.1404C>T NP_001340158.1:p.His468= NC_000017.11:17215266:G:A p.(His468=) NC_000017.11:17215266:G:A p.(His468=) NC_000017.11:17215266:G:A Identity +NM_000059.4:c.6207A>G NP_000050.3:p.Leu2069= NC_000013.11:32340561:A:G p.(Leu2069=) NC_000013.11:32340561:A:G p.(Leu2069=) NC_000013.11:32340561:A:G Identity +NM_000059.4:c.6T>C NP_000050.3:p.Pro2= NC_000013.11:32316465:T:C p.(Pro2=) NC_000013.11:32316465:T:C p.(Pro2=) NC_000013.11:32316465:T:C Identity +NM_000059.4:c.8004A>G NP_000050.3:p.Arg2668= NC_000013.11:32363205:A:G p.(Arg2668=) NC_000013.11:32363205:A:G p.(Arg2668=) NC_000013.11:32363205:A:G Identity +NM_007254.4:c.1236C>T NP_009185.2:p.Ala412= NC_000019.10:49861833:G:A p.(Ala412=) NC_000019.10:49861833:G:A p.(Ala412=) NC_000019.10:49861833:G:A Identity +NM_001195227.2:c.249C>T NP_001182156.1:p.Ala83= NC_000019.10:49166196:C:T p.(Ala83=) NC_000019.10:49166196:C:T p.(Ala83=) NC_000019.10:49166196:C:T Identity +NM_001195227.2:c.1371G>A NP_001182156.1:p.Pro457= NC_000019.10:49182684:G:A p.(Pro457=) NC_000019.10:49182684:G:A p.(Pro457=) NC_000019.10:49182684:G:A Identity +NM_001256944.2:c.1902G>A NP_001243873.1:p.Thr634= NC_000023.11:10220868:G:A p.(Thr634=) NC_000023.11:10220868:G:A p.(Thr634=) NC_000023.11:10220868:G:A Identity +NM_000136.3:c.1530C>T NP_000127.2:p.Thr510= NC_000009.12:95107068:G:A p.(Thr510=) NC_000009.12:95107068:G:A p.(Thr510=) NC_000009.12:95107068:G:A Identity +NM_000399.5:c.222A>G NP_000390.2:p.Pro74= NC_000010.11:62814415:T:C p.(Pro74=) NC_000010.11:62814415:T:C p.(Pro74=) NC_000010.11:62814415:T:C Identity +NM_004982.4:c.1066C>A NP_004973.1:p.Arg356= NC_000012.12:21765931:G:T p.(Arg356=) NC_000012.12:21765931:G:T p.(Arg356=) NC_000012.12:21765931:G:T Identity +NM_001257281.2:c.963G>A NP_001244210.1:p.Lys321= NC_000002.12:232163470:G:A p.(Lys321=) NC_000002.12:232163470:G:A p.(Lys321=) NC_000002.12:232163470:G:A Identity +NM_001040108.2:c.4185C>T NP_001035197.1:p.His1395= NC_000014.9:75018885:G:A p.(His1395=) NC_000014.9:75018885:G:A p.(His1395=) NC_000014.9:75018885:G:A Identity +NM_001014431.2:c.1038C>T NP_001014431.1:p.Arg346= NC_000014.9:104773011:G:A p.(Arg346=) NC_000014.9:104773011:G:A p.(Arg346=) NC_000014.9:104773011:G:A Identity +NM_001014431.2:c.438C>T NP_001014431.1:p.Thr146= NC_000014.9:104775204:G:A p.(Thr146=) NC_000014.9:104775204:G:A p.(Thr146=) NC_000014.9:104775204:G:A Identity +NM_000834.5:c.3957G>A NP_000825.2:p.Pro1319= NC_000012.12:13563280:C:T p.(Pro1319=) NC_000012.12:13563280:C:T p.(Pro1319=) NC_000012.12:13563280:C:T Identity +NM_000038.6:c.609A>G NP_000029.2:p.Gln203= NC_000005.10:112780866:A:G p.(Gln203=) NC_000005.10:112780866:A:G p.(Gln203=) NC_000005.10:112780866:A:G Identity +NM_017841.4:c.21C>T NP_060311.1:p.Phe7= NC_000011.10:61430166:C:T p.(Phe7=) NC_000011.10:61430166:C:T p.(Phe7=) NC_000011.10:61430166:C:T Identity +NM_000245.4:c.1533G>A NP_000236.2:p.Thr511= NC_000007.14:116740856:G:A p.(Thr511=) NC_000007.14:116740856:G:A p.(Thr511=) NC_000007.14:116740856:G:A Identity +NM_001365999.1:c.6117C>T NP_001352928.1:p.Asp2039= NC_000001.11:43437252:C:T p.(Asp2039=) NC_000001.11:43437252:C:T p.(Asp2039=) NC_000001.11:43437252:C:T Identity +NM_000360.4:c.579C>T NP_000351.2:p.Gly193= NC_000011.10:2167930:G:A p.(Gly193=) NC_000011.10:2167930:G:A p.(Gly193=) NC_000011.10:2167930:G:A Identity +NM_001195573.1:c.3099G>T NP_001182502.1:p.Leu1033= NC_000014.9:95105240:C:A p.(Leu1033=) NC_000014.9:95105240:C:A p.(Leu1033=) NC_000014.9:95105240:C:A Identity +NM_001195573.1:c.1767G>A NP_001182502.1:p.Lys589= NC_000014.9:95115806:C:T p.(Lys589=) NC_000014.9:95115806:C:T p.(Lys589=) NC_000014.9:95115806:C:T Identity +NM_000268.4:c.354C>T NP_000259.1:p.Phe118= NC_000022.11:29639202:C:T p.(Phe118=) NC_000022.11:29639202:C:T p.(Phe118=) NC_000022.11:29639202:C:T Identity +NM_020919.4:c.1977A>T NP_065970.2:p.Pro659= NC_000002.12:201746586:T:A p.(Pro659=) NC_000002.12:201746586:T:A p.(Pro659=) NC_000002.12:201746586:T:A Identity +NM_004656.4:c.705C>T NP_004647.1:p.Pro235= NC_000003.12:52406330:G:A p.(Pro235=) NC_000003.12:52406330:G:A p.(Pro235=) NC_000003.12:52406330:G:A Identity +NM_000059.4:c.7165_7169del NP_000050.3:p.Thr2388_Arg2389insTer NC_000013.11:32355016:AAGAAA:A p.(Arg2389Ter) NC_000013.11:32355016:AAGAAA:A p.(Arg2389Ter) NC_000013.11:32355017:AGAAA: Analogous +NM_000179.3:c.2028_2029del NP_000170.1:p.Lys676_Ser677insTer NC_000002.12:47800008:AAAA:AA p.(Ser677Ter) NC_000002.12:47800008:AAAA:AA p.(Ser677Ter) NC_000002.12:47800010:AA: Analogous +NM_000083.3:c.2062_2063insTTC NP_000074.3:p.Gly688delinsValArg NC_000007.14:143345652::TTC p.(Gly688delinsValArg) NC_000007.14:143345651:G:TTC p.(Gly688delinsValArg) NC_000007.14:143345652:GG:TTC Identity +NM_000051.4:c.3675_3677del NP_000042.3:p.Gln1225_Asp1226delinsHis NC_000011.10:108282806:AAGA:A p.(Gln1225_Asp1226delinsHis) NC_000011.10:108282806:AAGA:A p.(Gln1225_Asp1226delinsHis) NC_000011.10:108282807:AGA: Identity +NM_000059.4:c.7459_7484del NP_000050.3:p.Asn2486_Ala2487insTer NC_000013.11:32356446:GAATGCCAGAGATATACAGGATATGCGAAT:GAAT p.(Ala2487Ter) NC_000013.11:32356446:GAATGCCAGAGATATACAGGATATGCGAAT:GAAT p.(Ala2487Ter) NC_000013.11:32356450:GCCAGAGATATACAGGATATGCGAAT: Analogous +NM_001142800.2:c.7654del NP_001136272.1:p.Tyr2551_Val2552insTer NC_000006.12:63788173:C: p.(Val2552Ter) NC_000006.12:63788173:C: p.(Val2552Ter) NC_000006.12:63788173:C: Analogous +LRG_292t1:c.3396C>T LRG_292p1:p.Asn1132= NC_000017.11:43092134:G:A ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000059.4:c.2217C>T NP_000050.3:p.His739= NC_000013.11:32336571:C:T p.(His739=) NC_000013.11:32336571:C:T p.(His739=) NC_000013.11:32336571:C:T Identity +NM_000059.4:c.5949A>G NP_000050.3:p.Gly1983= NC_000013.11:32340303:A:G p.(Gly1983=) NC_000013.11:32340303:A:G p.(Gly1983=) NC_000013.11:32340303:A:G Identity +NM_000059.4:c.9540T>G NP_000050.3:p.Leu3180= NC_000013.11:32396935:T:G p.(Leu3180=) NC_000013.11:32396935:T:G p.(Leu3180=) NC_000013.11:32396935:T:G Identity +NM_000059.4:c.9829C>T NP_000050.3:p.Leu3277= NC_000013.11:32398341:C:T p.(Leu3277=) NC_000013.11:32398341:C:T p.(Leu3277=) NC_000013.11:32398341:C:T Identity +NM_000059.4:c.4086C>T NP_000050.3:p.His1362= NC_000013.11:32338440:C:T p.(His1362=) NC_000013.11:32338440:C:T p.(His1362=) NC_000013.11:32338440:C:T Identity +NM_000059.4:c.5124A>T NP_000050.3:p.Ala1708= NC_000013.11:32339478:A:T p.(Ala1708=) NC_000013.11:32339478:A:T p.(Ala1708=) NC_000013.11:32339478:A:T Identity +NM_000059.4:c.243C>T NP_000050.3:p.Phe81= NC_000013.11:32319251:C:T p.(Phe81=) NC_000013.11:32319251:C:T p.(Phe81=) NC_000013.11:32319251:C:T Identity +NM_000059.4:c.4326A>G NP_000050.3:p.Ser1442= NC_000013.11:32338680:A:G p.(Ser1442=) NC_000013.11:32338680:A:G p.(Ser1442=) NC_000013.11:32338680:A:G Identity +NM_000059.4:c.1032T>C NP_000050.3:p.Ser344= NC_000013.11:32332509:T:C p.(Ser344=) NC_000013.11:32332509:T:C p.(Ser344=) NC_000013.11:32332509:T:C Identity +NM_000059.4:c.9339T>C NP_000050.3:p.Ile3113= NC_000013.11:32394770:T:C p.(Ile3113=) NC_000013.11:32394770:T:C p.(Ile3113=) NC_000013.11:32394770:T:C Identity +NM_000059.4:c.3582C>G NP_000050.3:p.Gly1194= NC_000013.11:32337936:C:G p.(Gly1194=) NC_000013.11:32337936:C:G p.(Gly1194=) NC_000013.11:32337936:C:G Identity +NM_000038.6:c.8256_8257insTGGGGAAATTTT NP_000029.2:p.Asn2752_Glu2753insTrpGlyAsnPhe NC_000005.10:112843849:T:TTGGGGAAATTTT p.(Asn2752_Glu2753insTrpGlyAsnPhe) NC_000005.10:112843849:T:TGGGGAAATTTT p.(Asn2752_Glu2753insTrpGlyAsnPhe) NC_000005.10:112843850:TG:TGGGGAAATTTT Identity +NM_000314.8:c.528_534delinsA NP_000305.3:p.Tyr176_Tyr178delinsTer NC_000010.11:87952152:TTATTAT:A p.(Tyr176Ter) NC_000010.11:87952152:TTATTAT:A p.(Tyr176Ter) NC_000010.11:87952152:TTATTAT:A Analogous +NM_000251.3:c.445_456del NP_000242.1:p.Gly149_Met152del NC_000002.12:47410169:TGGGTGTTAAAATG:TG p.(Gly149_Met152del) NC_000002.12:47410169:TGGGTGTTAAAATG:TG p.(Gly149_Met152del) NC_000002.12:47410171:GGTGTTAAAATG: Identity +NM_001317184.2:c.843G>C NP_001304113.1:p.Val281= NC_000016.10:68811693:G:C p.(Val281=) NC_000016.10:68811693:G:C p.(Val281=) NC_000016.10:68811693:G:C Identity +NM_001039492.3:c.513G>A NP_001034581.1:p.Thr171= NC_000002.12:105363459:C:T p.(Thr171=) NC_000002.12:105363459:C:T p.(Thr171=) NC_000002.12:105363459:C:T Identity +NM_000059.4:c.6066A>G NP_000050.3:p.Ser2022= NC_000013.11:32340420:A:G p.(Ser2022=) NC_000013.11:32340420:A:G p.(Ser2022=) NC_000013.11:32340420:A:G Identity +NM_000296.4:c.214C>T NP_000287.4:p.Leu72= NC_000016.10:2135475:G:A p.(Leu72=) NC_000016.10:2135475:G:A p.(Leu72=) NC_000016.10:2135475:G:A Identity +NM_001282531.3:c.3279C>T NP_001269460.1:p.Ala1093= NC_000020.11:50891434:G:A p.(Ala1093=) NC_000020.11:50891434:G:A p.(Ala1093=) NC_000020.11:50891434:G:A Identity +NM_001363671.2:c.774T>C NP_001350600.1:p.Asp258= NC_000007.14:100105264:T:C p.(Asp258=) NC_000007.14:100105264:T:C p.(Asp258=) NC_000007.14:100105264:T:C Identity +NM_006420.3:c.2412C>T NP_006411.2:p.Ile804= NC_000020.11:48988540:C:T p.(Ile804=) NC_000020.11:48988540:C:T p.(Ile804=) NC_000020.11:48988540:C:T Identity +NM_006420.3:c.2640G>A NP_006411.2:p.Pro880= NC_000020.11:48989390:G:A p.(Pro880=) NC_000020.11:48989390:G:A p.(Pro880=) NC_000020.11:48989390:G:A Identity +NM_006015.6:c.5076C>T NP_006006.3:p.Asn1692= NC_000001.11:26775658:C:T p.(Asn1692=) NC_000001.11:26775658:C:T p.(Asn1692=) NC_000001.11:26775658:C:T Identity +NM_001384732.1:c.6744A>G NP_001371661.1:p.Gln2248= NC_000005.10:37169279:T:C p.(Gln2248=) NC_000005.10:37169279:T:C p.(Gln2248=) NC_000005.10:37169279:T:C Identity +NM_017721.5:c.1401C>T NP_060191.3:p.Pro467= NC_000019.10:13920600:C:T p.(Pro467=) NC_000019.10:13920600:C:T p.(Pro467=) NC_000019.10:13920600:C:T Identity +NM_001286734.2:c.435C>T NP_001273663.1:p.Gly145= NC_000004.12:103195155:G:A p.(Gly145=) NC_000004.12:103195155:G:A p.(Gly145=) NC_000004.12:103195155:G:A Identity +NM_001018113.3:c.2109A>G NP_001018123.1:p.Thr703= NC_000023.11:14844558:T:C p.(Thr703=) NC_000023.11:14844558:T:C p.(Thr703=) NC_000023.11:14844558:T:C Identity +NM_001305424.2:c.699A>C NP_001292353.1:p.Ala233= NC_000001.11:240092807:A:C p.(Ala233=) NC_000001.11:240092807:A:C p.(Ala233=) NC_000001.11:240092807:A:C Identity +NM_001244808.3:c.855T>G NP_001231737.1:p.Thr285= NC_000003.12:71041341:A:C p.(Thr285=) NC_000003.12:71041341:A:C p.(Thr285=) NC_000003.12:71041341:A:C Identity +NM_001012505.2:c.126G>A NP_001012523.1:p.Pro42= NC_000003.12:71198255:C:T p.(Pro42=) NC_000003.12:71198255:C:T p.(Pro42=) NC_000003.12:71198255:C:T Identity +NM_002291.3:c.1944C>T NP_002282.2:p.Pro648= NC_000007.14:107961589:G:A p.(Pro648=) NC_000007.14:107961589:G:A p.(Pro648=) NC_000007.14:107961589:G:A Identity +NM_001165255.2:c.339G>A NP_001158727.1:p.Ala113= NC_000007.14:157005750:C:T p.(Ala113=) NC_000007.14:157005750:C:T p.(Ala113=) NC_000007.14:157005750:C:T Identity +NM_001143979.2:c.792C>T NP_001137451.1:p.Val264= NC_000016.10:15694252:C:T p.(Val264=) NC_000016.10:15694252:C:T p.(Val264=) NC_000016.10:15694252:C:T Identity +NM_001376262.1:c.999G>A NP_001363191.1:p.Ser333= NC_000011.10:64685798:C:T p.(Ser333=) NC_000011.10:64685798:C:T p.(Ser333=) NC_000011.10:64685798:C:T Identity +NM_001145311.2:c.1386C>T NP_001138783.1:p.Pro462= NC_000015.10:89665765:G:A p.(Pro462=) NC_000015.10:89665765:G:A p.(Pro462=) NC_000015.10:89665765:G:A Identity +NM_003619.4:c.804G>A NP_003610.2:p.Thr268= NC_000004.12:118335488:C:T p.(Thr268=) NC_000004.12:118335488:C:T p.(Thr268=) NC_000004.12:118335488:C:T Identity +NM_001001890.3:c.18T>C NP_001001890.1:p.Asp6= NC_000021.9:34887094:A:G p.(Asp6=) NC_000021.9:34887094:A:G p.(Asp6=) NC_000021.9:34887094:A:G Identity +NM_001080517.3:c.1272A>G NP_001073986.1:p.Pro424= NC_000003.12:9445131:A:G p.(Pro424=) NC_000003.12:9445131:A:G p.(Pro424=) NC_000003.12:9445131:A:G Identity +NM_001126121.2:c.918C>T NP_001119593.1:p.Phe306= NC_000017.11:75273495:G:A p.(Phe306=) NC_000017.11:75273495:G:A p.(Phe306=) NC_000017.11:75273495:G:A Identity +NM_144628.4:c.1005G>A NP_653229.1:p.Gln335= NC_000020.11:438792:C:T p.(Gln335=) NC_000020.11:438792:C:T p.(Gln335=) NC_000020.11:438792:C:T Identity +NM_001160372.4:c.1263G>A NP_001153844.1:p.Ala421= NC_000008.11:140371051:C:T p.(Ala421=) NC_000008.11:140371051:C:T p.(Ala421=) NC_000008.11:140371051:C:T Identity +NM_004615.4:c.78C>T NP_004606.2:p.Phe26= NC_000023.11:38561623:C:T p.(Phe26=) NC_000023.11:38561623:C:T p.(Phe26=) NC_000023.11:38561623:C:T Identity +NM_001278716.2:c.135C>T NP_001265645.1:p.Ser45= NC_000006.12:98926853:G:A p.(Ser45=) NC_000006.12:98926853:G:A p.(Ser45=) NC_000006.12:98926853:G:A Identity +LRG_292t1:c.1560A>G LRG_292p1:p.Lys520= NC_000017.11:43093970:T:C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000059.4:c.7047T>C NP_000050.3:p.Phe2349= NC_000013.11:32354899:T:C p.(Phe2349=) NC_000013.11:32354899:T:C p.(Phe2349=) NC_000013.11:32354899:T:C Identity +NM_000059.4:c.7935A>G NP_000050.3:p.Arg2645= NC_000013.11:32362651:A:G p.(Arg2645=) NC_000013.11:32362651:A:G p.(Arg2645=) NC_000013.11:32362651:A:G Identity +NM_000492.4:c.918T>C NP_000483.3:p.Asn306= NC_000007.14:117540147:T:C p.(Asn306=) NC_000007.14:117540147:T:C p.(Asn306=) NC_000007.14:117540147:T:C Identity +NM_000552.5:c.3978C>T NP_000543.3:p.His1326= NC_000012.12:6019439:G:A p.(His1326=) NC_000012.12:6019439:G:A p.(His1326=) NC_000012.12:6019439:G:A Identity +NM_001031847.3:c.1770G>A NP_001027017.1:p.Glu590= NC_000011.10:68762731:C:T p.(Glu590=) NC_000011.10:68762731:C:T p.(Glu590=) NC_000011.10:68762731:C:T Identity +NM_016938.5:c.882C>T NP_058634.4:p.Cys294= NC_000011.10:65868386:G:A p.(Cys294=) NC_000011.10:65868386:G:A p.(Cys294=) NC_000011.10:65868386:G:A Identity +NM_002296.4:c.927C>T NP_002287.2:p.Ile309= NC_000001.11:225412610:G:A p.(Ile309=) NC_000001.11:225412610:G:A p.(Ile309=) NC_000001.11:225412610:G:A Identity +LRG_1137t1:c.1674C>T LRG_1137p1:p.Pro558= NC_000016.10:88735048:G:A ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found +NM_001084.5:c.129T>C NP_001075.1:p.Thr43= NC_000007.14:101216766:A:G p.(Thr43=) NC_000007.14:101216766:A:G p.(Thr43=) NC_000007.14:101216766:A:G Identity +NM_002838.5:c.1818G>A NP_002829.3:p.Lys606= NC_000001.11:198728436:G:A p.(Lys606=) NC_000001.11:198728436:G:A p.(Lys606=) NC_000001.11:198728436:G:A Identity +NM_020247.5:c.1773T>C NP_064632.2:p.Ile591= NC_000001.11:226986565:T:C p.(Ile591=) NC_000001.11:226986565:T:C p.(Ile591=) NC_000001.11:226986565:T:C Identity +NM_000068.4:c.5184C>T NP_000059.3:p.Asp1728= NC_000019.10:13235003:G:A p.(Asp1728=) NC_000019.10:13235003:G:A p.(Asp1728=) NC_000019.10:13235003:G:A Identity +NM_000085.5:c.492G>C NP_000076.2:p.Gly164= NC_000001.11:16048037:G:C p.(Gly164=) NC_000001.11:16048037:G:C p.(Gly164=) NC_000001.11:16048037:G:C Identity +NM_001379500.1:c.612C>T NP_001366429.1:p.Phe204= NC_000021.9:45468746:C:T p.(Phe204=) NC_000021.9:45468746:C:T p.(Phe204=) NC_000021.9:45468746:C:T Identity +NM_000296.4:c.7278T>C NP_000287.4:p.Ser2426= NC_000016.10:2106608:A:G p.(Ser2426=) NC_000016.10:2106608:A:G p.(Ser2426=) NC_000016.10:2106608:A:G Identity +NM_001278055.2:c.12144A>G NP_001264984.1:p.Gly4048= NC_000013.11:23331290:T:C p.(Gly4048=) NC_000013.11:23331290:T:C p.(Gly4048=) NC_000013.11:23331290:T:C Identity +NM_001365116.2:c.3285G>A NP_001352045.1:p.Ala1095= NC_000003.12:46998960:G:A p.(Ala1095=) NC_000003.12:46998960:G:A p.(Ala1095=) NC_000003.12:46998960:G:A Identity +NM_000057.4:c.1295dup NP_000048.1:p.Pro432_Asp433insTer NC_000015.10:90760666:CC:CCC p.(Asp433Ter) NC_000015.10:90760666:CC:CCC p.(Asp433Ter) ERR:SPDI Analogous +NM_000245.4:c.912A>G NP_000236.2:p.Arg304= NC_000007.14:116699995:A:G p.(Arg304=) NC_000007.14:116699995:A:G p.(Arg304=) NC_000007.14:116699995:A:G Identity +NM_000251.3:c.2412A>G NP_000242.1:p.Ala804= NC_000002.12:47478472:A:G p.(Ala804=) NC_000002.12:47478472:A:G p.(Ala804=) NC_000002.12:47478472:A:G Identity +NM_001313726.2:c.2094C>T NP_001300655.1:p.Phe698= NC_000011.10:26634240:C:T p.(Phe698=) NC_000011.10:26634240:C:T p.(Phe698=) NC_000011.10:26634240:C:T Identity +NM_000152.5:c.1929G>A NP_000143.2:p.Gly643= NC_000017.11:80112915:G:A p.(Gly643=) NC_000017.11:80112915:G:A p.(Gly643=) NC_000017.11:80112915:G:A Identity +NM_000028.3:c.1618T>C NP_000019.2:p.Leu540= NC_000001.11:99879928:T:C p.(Leu540=) NC_000001.11:99879928:T:C p.(Leu540=) NC_000001.11:99879928:T:C Identity +NM_000028.3:c.2241T>C NP_000019.2:p.Ser747= NC_000001.11:99881623:T:C p.(Ser747=) NC_000001.11:99881623:T:C p.(Ser747=) NC_000001.11:99881623:T:C Identity +NM_001285829.2:c.525C>T NP_001272758.1:p.Ile175= NC_000019.10:33301532:G:A p.(Ile175=) NC_000019.10:33301532:G:A p.(Ile175=) NC_000019.10:33301532:G:A Identity +LRG_1t1:c.563_564delinsA LRG_1p1:p.Gly188fs NC_000017.11:50198184:AC:T ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1t1 not found +NM_000238.4:c.1551T>C NP_000229.1:p.Ser517= NC_000007.14:150952430:A:G p.(Ser517=) NC_000007.14:150952430:A:G p.(Ser517=) NC_000007.14:150952430:A:G Identity +NM_001148.6:c.7587G>A NP_001139.3:p.Glu2529= NC_000004.12:113356204:G:A p.(Glu2529=) NC_000004.12:113356204:G:A p.(Glu2529=) NC_000004.12:113356204:G:A Identity +NM_003098.3:c.1158G>A NP_003089.1:p.Pro386= NC_000020.11:33410213:C:T p.(Pro386=) NC_000020.11:33410213:C:T p.(Pro386=) NC_000020.11:33410213:C:T Identity +NM_001379277.1:c.2445T>C NP_001366206.1:p.Asp815= NC_000007.14:92079932:T:C p.(Asp815=) NC_000007.14:92079932:T:C p.(Asp815=) NC_000007.14:92079932:T:C Identity +NM_005732.4:c.1596A>G NP_005723.2:p.Thr532= NC_000005.10:132591366:A:G p.(Thr532=) NC_000005.10:132591366:A:G p.(Thr532=) NC_000005.10:132591366:A:G Identity +NM_005732.4:c.267C>T NP_005723.2:p.Val89= NC_000005.10:132575829:C:T p.(Val89=) NC_000005.10:132575829:C:T p.(Val89=) NC_000005.10:132575829:C:T Identity +NM_024110.4:c.2853G>A NP_077015.2:p.Glu951= NC_000017.11:80208182:G:A p.(Glu951=) NC_000017.11:80208182:G:A p.(Glu951=) NC_000017.11:80208182:G:A Identity +NM_001305624.1:c.492G>A NP_001292553.1:p.Lys164= NC_000002.12:47161795:C:T p.(Lys164=) NC_000002.12:47161795:C:T p.(Lys164=) NC_000002.12:47161795:C:T Identity +NM_000383.4:c.1215G>A NP_000374.1:p.Pro405= NC_000021.9:44293111:G:A p.(Pro405=) NC_000021.9:44293111:G:A p.(Pro405=) NC_000021.9:44293111:G:A Identity +LRG_1323t1:c.490C>T LRG_1323p1:p.Leu164= NC_000002.12:46956979:C:T ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000222.3:c.2238A>G NP_000213.1:p.Ser746= NC_000004.12:54731874:A:G p.(Ser746=) NC_000004.12:54731874:A:G p.(Ser746=) NC_000004.12:54731874:A:G Identity +NM_001347827.2:c.1023C>T NP_001334756.1:p.Ala341= NC_000004.12:54267642:C:T p.(Ala341=) NC_000004.12:54267642:C:T p.(Ala341=) NC_000004.12:54267642:C:T Identity +NM_001347827.2:c.1461T>C NP_001334756.1:p.Arg487= NC_000004.12:54273632:T:C p.(Arg487=) NC_000004.12:54273632:T:C p.(Arg487=) NC_000004.12:54273632:T:C Identity +NM_001347827.2:c.18G>A NP_001334756.1:p.Pro6= NC_000004.12:54258785:G:A p.(Pro6=) NC_000004.12:54258785:G:A p.(Pro6=) NC_000004.12:54258785:G:A Identity +NM_001079802.2:c.822G>T NP_001073270.1:p.Arg274= NC_000009.12:105615318:G:T p.(Arg274=) NC_000009.12:105615318:G:T p.(Arg274=) NC_000009.12:105615318:G:T Identity +NM_004260.4:c.1966C>T NP_004251.4:p.Leu656= NC_000008.11:144514019:G:A p.(Leu656=) NC_000008.11:144514019:G:A p.(Leu656=) NC_000008.11:144514019:G:A Identity +NM_004260.4:c.2466C>T NP_004251.4:p.Gly822= NC_000008.11:144513135:G:A p.(Gly822=) NC_000008.11:144513135:G:A p.(Gly822=) NC_000008.11:144513135:G:A Identity +NM_004260.4:c.864G>A NP_004251.4:p.Gly288= NC_000008.11:144516254:C:T p.(Gly288=) NC_000008.11:144516254:C:T p.(Gly288=) NC_000008.11:144516254:C:T Identity +NM_000093.5:c.684G>A NP_000084.3:p.Ser228= NC_000009.12:134727294:G:A p.(Ser228=) NC_000009.12:134727294:G:A p.(Ser228=) NC_000009.12:134727294:G:A Identity +NM_000090.4:c.1335A>G NP_000081.2:p.Pro445= NC_000002.12:188994581:A:G p.(Pro445=) NC_000002.12:188994581:A:G p.(Pro445=) NC_000002.12:188994581:A:G Identity +NM_001378454.1:c.9612A>C NP_001365383.1:p.Ile3204= NC_000002.12:73519846:A:C p.(Ile3204=) NC_000002.12:73519846:A:C p.(Ile3204=) NC_000002.12:73519846:A:C Identity +NM_001005407.2:c.4818G>A NP_001005407.1:p.Ser1606= NC_000016.10:1213837:G:A p.(Ser1606=) NC_000016.10:1213837:G:A p.(Ser1606=) NC_000016.10:1213837:G:A Identity +NM_001005407.2:c.801C>T NP_001005407.1:p.Val267= NC_000016.10:1198771:C:T p.(Val267=) NC_000016.10:1198771:C:T p.(Val267=) NC_000016.10:1198771:C:T Identity +NM_000280.6:c.981C>T NP_000271.1:p.Ser327= NC_000011.10:31793488:G:A p.(Ser327=) NC_000011.10:31793488:G:A p.(Ser327=) NC_000011.10:31793488:G:A Identity +NM_004329.3:c.558A>G NP_004320.2:p.Arg186= NC_000010.11:86912266:A:G p.(Arg186=) NC_000010.11:86912266:A:G p.(Arg186=) NC_000010.11:86912266:A:G Identity +NM_001353229.2:c.1329G>A NP_001340158.1:p.Gln443= NC_000017.11:17216404:C:T p.(Gln443=) NC_000017.11:17216404:C:T p.(Gln443=) NC_000017.11:17216404:C:T Identity +NM_000465.4:c.1182A>G NP_000456.2:p.Thr394= NC_000002.12:214780691:T:C p.(Thr394=) NC_000002.12:214780691:T:C p.(Thr394=) NC_000002.12:214780691:T:C Identity +NM_000465.4:c.396G>A NP_000456.2:p.Leu132= NC_000002.12:214781477:C:T p.(Leu132=) NC_000002.12:214781477:C:T p.(Leu132=) NC_000002.12:214781477:C:T Identity +NM_000231.3:c.129A>G NP_000222.2:p.Leu43= NC_000013.11:23203822:A:G p.(Leu43=) NC_000013.11:23203822:A:G p.(Leu43=) NC_000013.11:23203822:A:G Identity +NM_001277961.3:c.1185C>T NP_001264890.1:p.His395= NC_000011.10:4082928:C:T p.(His395=) NC_000011.10:4082928:C:T p.(His395=) NC_000011.10:4082928:C:T Identity +NM_001384466.1:c.108C>T NP_001371395.1:p.Phe36= NC_000011.10:64116374:C:T p.(Phe36=) NC_000011.10:64116374:C:T p.(Phe36=) NC_000011.10:64116374:C:T Identity +NM_001036.6:c.11859G>A NP_001027.3:p.Gln3953= NC_000015.10:33837838:G:A p.(Gln3953=) NC_000015.10:33837838:G:A p.(Gln3953=) NC_000015.10:33837838:G:A Identity +NM_004104.5:c.1701G>A NP_004095.4:p.Leu567= NC_000017.11:82090543:C:T p.(Leu567=) NC_000017.11:82090543:C:T p.(Leu567=) NC_000017.11:82090543:C:T Identity +NM_004104.5:c.2757G>A NP_004095.4:p.Leu919= NC_000017.11:82088143:C:T p.(Leu919=) NC_000017.11:82088143:C:T p.(Leu919=) NC_000017.11:82088143:C:T Identity +NM_004104.5:c.3975G>A NP_004095.4:p.Pro1325= NC_000017.11:82085628:C:T p.(Pro1325=) NC_000017.11:82085628:C:T p.(Pro1325=) NC_000017.11:82085628:C:T Identity +NM_004104.5:c.4581G>A NP_004095.4:p.Pro1527= NC_000017.11:82084699:C:T p.(Pro1527=) NC_000017.11:82084699:C:T p.(Pro1527=) NC_000017.11:82084699:C:T Identity +NM_000059.4:c.9831G>C NP_000050.3:p.Leu3277= NC_000013.11:32398343:G:C p.(Leu3277=) NC_000013.11:32398343:G:C p.(Leu3277=) NC_000013.11:32398343:G:C Identity +NM_001407933.1:c.1971_1972inv NP_001394862.1:p.Glu657_Asp658delinsAspTyr NC_000017.11:43093294:CT:AG p.(Glu657_Asp658delinsAspTyr) NC_000017.11:43093294:CT:AG p.(Glu657_Asp658delinsAspTyr) ERR:SPDI Identity +NM_001407571.1:c.3384T>A NP_001394500.1:p.Ala1128= NC_000017.11:43091933:A:T p.(Ala1128=) NC_000017.11:43091933:A:T p.(Ala1128=) NC_000017.11:43091933:A:T Identity +NM_004483.5:c.252T>C NP_004474.2:p.Tyr84= NC_000016.10:81087640:A:G p.(Tyr84=) NC_000016.10:81087640:A:G p.(Tyr84=) NC_000016.10:81087640:A:G Identity +NM_001252678.2:c.390= NP_001239607.1:p.Phe130= NC_000015.10:72731595:T:T p.(Phe130=) NC_000015.10:72731595:T: p.(Phe130=) NC_000015.10:72731595:T:T Identity +NM_152383.5:c.1800C>A NP_689596.4:p.Ala600= NC_000002.12:232329872:C:A p.(Ala600=) NC_000002.12:232329872:C:A p.(Ala600=) NC_000002.12:232329872:C:A Identity +NM_152383.5:c.1833C>A NP_689596.4:p.Pro611= NC_000002.12:232329905:C:A p.(Pro611=) NC_000002.12:232329905:C:A p.(Pro611=) NC_000002.12:232329905:C:A Identity +NM_000335.5:c.4812C>T NP_000326.2:p.Gly1604= NC_000003.12:38551556:G:A p.(Gly1604=) NC_000003.12:38551556:G:A p.(Gly1604=) NC_000003.12:38551556:G:A Identity +NM_000335.5:c.93G>A NP_000326.2:p.Lys31= NC_000003.12:38633214:C:T p.(Lys31=) NC_000003.12:38633214:C:T p.(Lys31=) NC_000003.12:38633214:C:T Identity +LRG_402t1:c.10686A>G LRG_402p1:p.Glu3562= NC_000001.11:237723258:A:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001317184.2:c.2370A>G NP_001304113.1:p.Ser790= NC_000016.10:68833402:A:G p.(Ser790=) NC_000016.10:68833402:A:G p.(Ser790=) NC_000016.10:68833402:A:G Identity +NM_001330343.2:c.379C>A NP_001317272.1:p.Arg127= NC_000012.12:8605262:G:T p.(Arg127=) NC_000012.12:8605262:G:T p.(Arg127=) NC_000012.12:8605262:G:T Identity +NM_003362.4:c.264C>T NP_003353.1:p.Ser88= NC_000012.12:109098589:C:T p.(Ser88=) NC_000012.12:109098589:C:T p.(Ser88=) NC_000012.12:109098589:C:T Identity +NM_000388.4:c.2343C>T NP_000379.3:p.Cys781= NC_000003.12:122284296:C:T p.(Cys781=) NC_000003.12:122284296:C:T p.(Cys781=) NC_000003.12:122284296:C:T Identity +NM_000388.4:c.2742C>T NP_000379.3:p.Ile914= NC_000003.12:122284695:C:T p.(Ile914=) NC_000003.12:122284695:C:T p.(Ile914=) NC_000003.12:122284695:C:T Identity +NM_001001890.3:c.1230C>G NP_001001890.1:p.Thr410= NC_000021.9:34792266:G:C p.(Thr410=) NC_000021.9:34792266:G:C p.(Thr410=) NC_000021.9:34792266:G:C Identity +NM_000171.4:c.459T>C NP_000162.2:p.Asn153= NC_000005.10:151859801:A:G p.(Asn153=) NC_000005.10:151859801:A:G p.(Asn153=) NC_000005.10:151859801:A:G Identity +NM_001080114.2:c.1743C>T NP_001073583.1:p.His581= NC_000010.11:86726230:C:T p.(His581=) NC_000010.11:86726230:C:T p.(His581=) NC_000010.11:86726230:C:T Identity +NM_001363813.1:c.1635G>C NP_001350742.1:p.Gly545= NC_000017.11:65537400:C:G p.(Gly545=) NC_000017.11:65537400:C:G p.(Gly545=) NC_000017.11:65537400:C:G Identity +NM_001363813.1:c.522G>T NP_001350742.1:p.Ala174= NC_000017.11:65558098:C:A p.(Ala174=) NC_000017.11:65558098:C:A p.(Ala174=) NC_000017.11:65558098:C:A Identity +NM_001182.5:c.882G>C NP_001173.2:p.Leu294= NC_000005.10:126561113:C:G p.(Leu294=) NC_000005.10:126561113:C:G p.(Leu294=) NC_000005.10:126561113:C:G Identity +NM_001164507.2:c.19836C>T NP_001157979.2:p.Asp6612= NC_000002.12:151552671:G:A p.(Asp6612=) NC_000002.12:151552671:G:A p.(Asp6612=) NC_000002.12:151552671:G:A Identity +NM_001040113.2:c.2133G>A NP_001035202.1:p.Val711= NC_000016.10:15748114:C:T p.(Val711=) NC_000016.10:15748114:C:T p.(Val711=) NC_000016.10:15748114:C:T Identity +NM_020376.4:c.360C>T NP_065109.1:p.Arg120= NC_000011.10:821799:C:T p.(Arg120=) NC_000011.10:821799:C:T p.(Arg120=) NC_000011.10:821799:C:T Identity +NM_001282205.2:c.240G>A NP_001269134.1:p.Gln80= NC_000009.12:34637331:C:T p.(Gln80=) NC_000009.12:34637331:C:T p.(Gln80=) NC_000009.12:34637331:C:T Identity +NM_004415.4:c.5355G>A NP_004406.2:p.Glu1785= NC_000006.12:7581544:G:A p.(Glu1785=) NC_000006.12:7581544:G:A p.(Glu1785=) NC_000006.12:7581544:G:A Identity +NM_005982.4:c.474C>T NP_005973.1:p.Ala158= NC_000014.9:60648715:G:A p.(Ala158=) NC_000014.9:60648715:G:A p.(Ala158=) NC_000014.9:60648715:G:A Identity +NM_001814.6:c.458= NP_001805.4:p.Ile153= NC_000011.10:88312414:A:A p.(Ile153=) NC_000011.10:88312414:A: p.(Ile153=) NC_000011.10:88312414:A:A Identity +NM_001160227.2:c.6021C>T NP_001153699.1:p.Ile2007= NC_000015.10:44570641:G:A p.(Ile2007=) NC_000015.10:44570641:G:A p.(Ile2007=) NC_000015.10:44570641:G:A Identity +NM_001160227.2:c.732C>T NP_001153699.1:p.Asp244= NC_000015.10:44657231:G:A p.(Asp244=) NC_000015.10:44657231:G:A p.(Asp244=) NC_000015.10:44657231:G:A Identity +NM_001256850.1:c.26680T>C NP_001243779.1:p.Leu8894= NC_000002.12:178712198:A:G p.(Leu8894=) NC_000002.12:178712198:A:G p.(Leu8894=) NC_000002.12:178712198:A:G Identity +NM_001256850.1:c.33183A>G NP_001243779.1:p.Leu11061= NC_000002.12:178677777:T:C p.(Leu11061=) NC_000002.12:178677777:T:C p.(Leu11061=) NC_000002.12:178677777:T:C Identity +NM_030777.4:c.189G>C NP_110404.1:p.Leu63= NC_000020.11:46725224:G:C p.(Leu63=) NC_000020.11:46725224:G:C p.(Leu63=) NC_000020.11:46725224:G:C Identity +NM_003106.4:c.45G>A NP_003097.1:p.Gln15= NC_000003.12:181712404:G:A p.(Gln15=) NC_000003.12:181712404:G:A p.(Gln15=) NC_000003.12:181712404:G:A Identity +NM_000548.5:c.1629G>A NP_000539.2:p.Pro543= NC_000016.10:2065547:G:A p.(Pro543=) NC_000016.10:2065547:G:A p.(Pro543=) NC_000016.10:2065547:G:A Identity +NM_001135040.3:c.2484T>C NP_001128512.1:p.Ala828= NC_000002.12:74366542:A:G p.(Ala828=) NC_000002.12:74366542:A:G p.(Ala828=) NC_000002.12:74366542:A:G Identity +NM_001193465.2:c.327A>G NP_001180394.1:p.Lys109= NC_000017.11:46171816:T:C p.(Lys109=) NC_000017.11:46171816:T:C p.(Lys109=) NC_000017.11:46171816:T:C Identity +NM_001351527.2:c.4707T>C NP_001338456.1:p.Ser1569= NC_000009.12:132326890:A:G p.(Ser1569=) NC_000009.12:132326890:A:G p.(Ser1569=) NC_000009.12:132326890:A:G Identity +NM_001256442.2:c.66C>T NP_001243371.1:p.Gly22= NC_000016.10:29813119:C:T p.(Gly22=) NC_000016.10:29813119:C:T p.(Gly22=) NC_000016.10:29813119:C:T Identity +NM_000070.3:c.51C>T NP_000061.1:p.Pro17= NC_000015.10:42359855:C:T p.(Pro17=) NC_000015.10:42359855:C:T p.(Pro17=) NC_000015.10:42359855:C:T Identity +NM_001042663.3:c.1929C>T NP_001036128.2:p.Phe643= NC_000001.11:6469658:G:A p.(Phe643=) NC_000001.11:6469658:G:A p.(Phe643=) NC_000001.11:6469658:G:A Identity +NM_001177428.1:c.1470C>T NP_001170899.1:p.Cys490= NC_000012.12:109793573:G:A p.(Cys490=) NC_000012.12:109793573:G:A p.(Cys490=) NC_000012.12:109793573:G:A Identity +NM_001256849.1:c.2514C>A NP_001243778.1:p.Pro838= NC_000019.10:50414939:C:A p.(Pro838=) NC_000019.10:50414939:C:A p.(Pro838=) NC_000019.10:50414939:C:A Identity +NM_002691.4:c.774G>A NP_002682.2:p.Thr258= NC_000019.10:50402468:G:A p.(Thr258=) NC_000019.10:50402468:G:A p.(Thr258=) NC_000019.10:50402468:G:A Identity +NM_001453.3:c.375C>T NP_001444.2:p.Ser125= NC_000006.12:1610819:C:T p.(Ser125=) NC_000006.12:1610819:C:T p.(Ser125=) NC_000006.12:1610819:C:T Identity +NM_000038.6:c.2626C>A NP_000029.2:p.Arg876= NC_000005.10:112838219:C:A p.(Arg876=) NC_000005.10:112838219:C:A p.(Arg876=) NC_000005.10:112838219:C:A Identity +NM_000038.6:c.6729A>C NP_000029.2:p.Thr2243= NC_000005.10:112842322:A:C p.(Thr2243=) NC_000005.10:112842322:A:C p.(Thr2243=) NC_000005.10:112842322:A:C Identity +NM_001128844.3:c.189G>T NP_001122316.1:p.Gly63= NC_000019.10:10984339:G:T p.(Gly63=) NC_000019.10:10984339:G:T p.(Gly63=) NC_000019.10:10984339:G:T Identity +NM_001128844.3:c.2241G>A NP_001122316.1:p.Ala747= NC_000019.10:11010497:G:A p.(Ala747=) NC_000019.10:11010497:G:A p.(Ala747=) NC_000019.10:11010497:G:A Identity +NM_001128844.3:c.489G>A NP_001122316.1:p.Gly163= NC_000019.10:10986321:G:A p.(Gly163=) NC_000019.10:10986321:G:A p.(Gly163=) NC_000019.10:10986321:G:A Identity +NM_001128844.3:c.4905A>G NP_001122316.1:p.Gln1635= NC_000019.10:11060180:A:G p.(Gln1635=) NC_000019.10:11060180:A:G p.(Gln1635=) NC_000019.10:11060180:A:G Identity +NM_001128844.3:c.939C>T NP_001122316.1:p.Pro313= NC_000019.10:10987744:C:T p.(Pro313=) NC_000019.10:10987744:C:T p.(Pro313=) NC_000019.10:10987744:C:T Identity +NM_002471.4:c.2250T>C NP_002462.2:p.Ser750= NC_000014.9:23396735:A:G p.(Ser750=) NC_000014.9:23396735:A:G p.(Ser750=) NC_000014.9:23396735:A:G Identity +NM_005477.3:c.3354C>T NP_005468.1:p.Leu1118= NC_000015.10:73322738:G:A p.(Leu1118=) NC_000015.10:73322738:G:A p.(Leu1118=) NC_000015.10:73322738:G:A Identity +NM_001172309.2:c.945A>G NP_001165780.1:p.Glu315= NC_000001.11:77933364:A:G p.(Glu315=) NC_000001.11:77933364:A:G p.(Glu315=) NC_000001.11:77933364:A:G Identity +NM_001365536.1:c.1110G>A NP_001352465.1:p.Thr370= NC_000002.12:166288640:C:T p.(Thr370=) NC_000002.12:166288640:C:T p.(Thr370=) NC_000002.12:166288640:C:T Identity +NM_001365536.1:c.2853C>G NP_001352465.1:p.Val951= NC_000002.12:166277003:G:C p.(Val951=) NC_000002.12:166277003:G:C p.(Val951=) NC_000002.12:166277003:G:C Identity +NM_001365536.1:c.4209A>G NP_001352465.1:p.Ala1403= NC_000002.12:166227720:T:C p.(Ala1403=) NC_000002.12:166227720:T:C p.(Ala1403=) NC_000002.12:166227720:T:C Identity +NM_001184985.2:c.5343C>T NP_001171914.1:p.Thr1781= NC_000012.12:885366:C:T p.(Thr1781=) NC_000012.12:885366:C:T p.(Thr1781=) NC_000012.12:885366:C:T Identity +NM_001204824.2:c.1188G>A NP_001191753.1:p.Lys396= NC_000008.11:132140095:C:T p.(Lys396=) NC_000008.11:132140095:C:T p.(Lys396=) NC_000008.11:132140095:C:T Identity +NM_015192.4:c.1467C>G NP_056007.1:p.Thr489= NC_000020.11:8717801:C:G p.(Thr489=) NC_000020.11:8717801:C:G p.(Thr489=) NC_000020.11:8717801:C:G Identity +NM_000445.5:c.2817C>T NP_000436.2:p.Ala939= NC_000008.11:143929938:G:A p.(Ala939=) NC_000008.11:143929938:G:A p.(Ala939=) NC_000008.11:143929938:G:A Identity +NM_000445.5:c.5214G>A NP_000436.2:p.Ala1738= NC_000008.11:143924795:C:T p.(Ala1738=) NC_000008.11:143924795:C:T p.(Ala1738=) NC_000008.11:143924795:C:T Identity +NM_000445.5:c.7767C>T NP_000436.2:p.Ala2589= NC_000008.11:143922134:G:A p.(Ala2589=) NC_000008.11:143922134:G:A p.(Ala2589=) NC_000008.11:143922134:G:A Identity +NM_003824.4:c.93G>T NP_003815.1:p.Val31= NC_000011.10:70203551:G:T p.(Val31=) NC_000011.10:70203551:G:T p.(Val31=) NC_000011.10:70203551:G:T Identity +NM_005921.2:c.1566C>T NP_005912.1:p.Thr522= NC_000005.10:56872884:C:T p.(Thr522=) NC_000005.10:56872884:C:T p.(Thr522=) NC_000005.10:56872884:C:T Identity +NM_052872.4:c.222C>T NP_443104.1:p.Ile74= NC_000006.12:52238761:G:A p.(Ile74=) NC_000006.12:52238761:G:A p.(Ile74=) NC_000006.12:52238761:G:A Identity +NM_001127487.2:c.1392C>T NP_001120959.1:p.Phe464= NC_000007.14:128838783:C:T p.(Phe464=) NC_000007.14:128838783:C:T p.(Phe464=) NC_000007.14:128838783:C:T Identity +NM_001127487.2:c.141T>C NP_001120959.1:p.Asn47= NC_000007.14:128830777:T:C p.(Asn47=) NC_000007.14:128830777:T:C p.(Asn47=) NC_000007.14:128830777:T:C Identity +NM_001127487.2:c.3081C>A NP_001120959.1:p.Arg1027= NC_000007.14:128844154:C:A p.(Arg1027=) NC_000007.14:128844154:C:A p.(Arg1027=) NC_000007.14:128844154:C:A Identity +NM_001127487.2:c.3240C>T NP_001120959.1:p.Pro1080= NC_000007.14:128844704:C:T p.(Pro1080=) NC_000007.14:128844704:C:T p.(Pro1080=) NC_000007.14:128844704:C:T Identity +NM_001127487.2:c.5811C>T NP_001120959.1:p.Thr1937= NC_000007.14:128852657:C:T p.(Thr1937=) NC_000007.14:128852657:C:T p.(Thr1937=) NC_000007.14:128852657:C:T Identity +NM_014797.3:c.1389C>G NP_055612.2:p.Ser463= NC_000006.12:109466555:G:C p.(Ser463=) NC_000006.12:109466555:G:C p.(Ser463=) NC_000006.12:109466555:G:C Identity +NM_001130823.3:c.687T>G NP_001124295.1:p.Val229= NC_000019.10:10173170:A:C p.(Val229=) NC_000019.10:10173170:A:C p.(Val229=) NC_000019.10:10173170:A:C Identity +NM_001376.5:c.6399A>G NP_001367.2:p.Glu2133= NC_000014.9:102010452:A:G p.(Glu2133=) NC_000014.9:102010452:A:G p.(Glu2133=) NC_000014.9:102010452:A:G Identity +NM_016938.5:c.396C>T NP_058634.4:p.His132= NC_000011.10:65870629:G:A p.(His132=) NC_000011.10:65870629:G:A p.(His132=) NC_000011.10:65870629:G:A Identity +NM_001031714.4:c.3612G>A NP_001026884.3:p.Ser1204= NC_000014.9:104714773:G:A p.(Ser1204=) NC_000014.9:104714773:G:A p.(Ser1204=) NC_000014.9:104714773:G:A Identity +NM_001350626.2:c.1689G>A NP_001337555.1:p.Ala563= NC_000007.14:2539259:C:T p.(Ala563=) NC_000007.14:2539259:C:T p.(Ala563=) NC_000007.14:2539259:C:T Identity +NM_001350626.2:c.2349T>C NP_001337555.1:p.Leu783= NC_000007.14:2538365:A:G p.(Leu783=) NC_000007.14:2538365:A:G p.(Leu783=) NC_000007.14:2538365:A:G Identity +NM_001145152.2:c.1101A>G NP_001138624.1:p.Gln367= NC_000008.11:17286408:A:G p.(Gln367=) NC_000008.11:17286408:A:G p.(Gln367=) NC_000008.11:17286408:A:G Identity +NM_001271938.2:c.7053C>T NP_001258867.1:p.Cys2351= NC_000019.10:42370747:C:T p.(Cys2351=) NC_000019.10:42370747:C:T p.(Cys2351=) NC_000019.10:42370747:C:T Identity +NM_001272003.2:c.1914T>C NP_001258932.1:p.Pro638= NC_000009.12:135772754:T:C p.(Pro638=) NC_000009.12:135772754:T:C p.(Pro638=) NC_000009.12:135772754:T:C Identity +NM_006231.4:c.1899C>T NP_006222.2:p.Asn633= NC_000012.12:132668834:G:A p.(Asn633=) NC_000012.12:132668834:G:A p.(Asn633=) NC_000012.12:132668834:G:A Identity +NM_001271723.2:c.1110G>A NP_001258652.1:p.Ala370= NC_000005.10:148414151:G:A p.(Ala370=) NC_000005.10:148414151:G:A p.(Ala370=) NC_000005.10:148414151:G:A Identity +NM_000069.3:c.5388C>T NP_000060.2:p.Gly1796= NC_000001.11:201040064:G:A p.(Gly1796=) NC_000001.11:201040064:G:A p.(Gly1796=) NC_000001.11:201040064:G:A Identity +NM_001194954.2:c.1377G>A NP_001181883.1:p.Ala459= NC_000005.10:139318975:G:A p.(Ala459=) NC_000005.10:139318975:G:A p.(Ala459=) NC_000005.10:139318975:G:A Identity +NM_001105206.3:c.3165C>T NP_001098676.2:p.Ser1055= NC_000006.12:112139236:G:A p.(Ser1055=) NC_000006.12:112139236:G:A p.(Ser1055=) NC_000006.12:112139236:G:A Identity +NM_001277971.2:c.564C>T NP_001264900.1:p.Ile188= NC_000008.11:43122387:C:T p.(Ile188=) NC_000008.11:43122387:C:T p.(Ile188=) NC_000008.11:43122387:C:T Identity +NM_001145293.2:c.334A>C NP_001138765.1:p.Arg112= NC_000003.12:25764223:T:G p.(Arg112=) NC_000003.12:25764223:T:G p.(Arg112=) NC_000003.12:25764223:T:G Identity +NM_001723.7:c.84T>C NP_001714.1:p.Asn28= NC_000006.12:56642704:A:G p.(Asn28=) NC_000006.12:56642704:A:G p.(Asn28=) NC_000006.12:56642704:A:G Identity +NM_001127384.3:c.2142G>A NP_001120856.1:p.Glu714= NC_000010.11:66069324:C:T p.(Glu714=) NC_000010.11:66069324:C:T p.(Glu714=) NC_000010.11:66069324:C:T Identity +NM_004975.4:c.2049A>C NP_004966.1:p.Pro683= NC_000020.11:49373510:T:G p.(Pro683=) NC_000020.11:49373510:T:G p.(Pro683=) NC_000020.11:49373510:T:G Identity +NM_001112741.2:c.492G>A NP_001106212.1:p.Arg164= NC_000011.10:17736493:G:A p.(Arg164=) NC_000011.10:17736493:G:A p.(Arg164=) NC_000011.10:17736493:G:A Identity +NM_001348250.2:c.1092G>A NP_001335179.1:p.Ala364= NC_000003.12:11028747:G:A p.(Ala364=) NC_000003.12:11028747:G:A p.(Ala364=) NC_000003.12:11028747:G:A Identity +NM_001348250.2:c.138G>A NP_001335179.1:p.Thr46= NC_000003.12:11017348:G:A p.(Thr46=) NC_000003.12:11017348:G:A p.(Thr46=) NC_000003.12:11017348:G:A Identity +NM_001349370.3:c.3117A>C NP_001336299.1:p.Thr1039= NC_000003.12:47121386:T:G p.(Thr1039=) NC_000003.12:47121386:T:G p.(Thr1039=) NC_000003.12:47121386:T:G Identity +NM_001134771.2:c.1491C>T NP_001128243.1:p.Leu497= NC_000020.11:46044992:C:T p.(Leu497=) NC_000020.11:46044992:C:T p.(Leu497=) NC_000020.11:46044992:C:T Identity +NM_005045.4:c.6429C>T NP_005036.2:p.Ile2143= NC_000007.14:103545217:G:A p.(Ile2143=) NC_000007.14:103545217:G:A p.(Ile2143=) NC_000007.14:103545217:G:A Identity +NM_001204269.2:c.213C>T NP_001191198.1:p.Pro71= NC_000001.11:110604569:G:A p.(Pro71=) NC_000001.11:110604569:G:A p.(Pro71=) NC_000001.11:110604569:G:A Identity +NM_173354.5:c.1926C>T NP_775490.2:p.Ala642= NC_000021.9:43417592:G:A p.(Ala642=) NC_000021.9:43417592:G:A p.(Ala642=) NC_000021.9:43417592:G:A Identity +NM_001370085.1:c.981G>C NP_001357014.1:p.Leu327= NC_000020.11:763589:C:G p.(Leu327=) NC_000020.11:763589:C:G p.(Leu327=) NC_000020.11:763589:C:G Identity +NM_181882.3:c.1026A>C NP_870998.2:p.Ala342= NC_000019.10:40397325:T:G p.(Ala342=) NC_000019.10:40397325:T:G p.(Ala342=) NC_000019.10:40397325:T:G Identity +NM_000742.4:c.984C>T NP_000733.2:p.Ile328= NC_000008.11:27463458:G:A p.(Ile328=) NC_000008.11:27463458:G:A p.(Ile328=) NC_000008.11:27463458:G:A Identity +NM_001195573.1:c.3522A>T NP_001182502.1:p.Ala1174= NC_000014.9:95103873:T:A p.(Ala1174=) NC_000014.9:95103873:T:A p.(Ala1174=) NC_000014.9:95103873:T:A Identity +NM_001195573.1:c.783T>C NP_001182502.1:p.Thr261= NC_000014.9:95126699:A:G p.(Thr261=) NC_000014.9:95126699:A:G p.(Thr261=) NC_000014.9:95126699:A:G Identity +LRG_518t2:c.1191G>A LRG_518p2:p.Val397= NC_000010.11:43109157:G:A ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_518t2 not found +NM_000334.4:c.5292C>T NP_000325.4:p.Asp1764= NC_000017.11:63940989:G:A p.(Asp1764=) NC_000017.11:63940989:G:A p.(Asp1764=) NC_000017.11:63940989:G:A Identity +NM_000166.6:c.164_184dup NP_000157.1:p.Thr55_Asn61dup NC_000023.11:71223862:CTGCAACACACTCCAGCCTGGCTGCAACA:CTGCAACACACTCCAGCCTGGCTGCAACACACTCCAGCCTGGCTGCAACA p.(Thr55_Asn61dup) NC_000023.11:71223862:CTGCAACACACTCCAGCCTGGCTGCAACA:CTGCAACACACTCCAGCCTGGCTGCAACACACTCCAGCCTGGCTGCAACA p.(Thr55_Asn61dup) ERR:SPDI Identity +NM_002524.5:c.393C>T NP_002515.1:p.His131= NC_000001.11:114709625:G:A p.(His131=) NC_000001.11:114709625:G:A p.(His131=) NC_000001.11:114709625:G:A Identity +NM_001382394.1:c.2923C>A NP_001369323.1:p.Arg975= NC_000002.12:38997272:G:T p.(Arg975=) NC_000002.12:38997272:G:T p.(Arg975=) NC_000002.12:38997272:G:T Identity +NM_001272073.2:c.795G>A NP_001259002.1:p.Leu265= NC_000003.12:49101402:C:T p.(Leu265=) NC_000003.12:49101402:C:T p.(Leu265=) NC_000003.12:49101402:C:T Identity +NM_000811.3:c.639A>G NP_000802.2:p.Gln213= NC_000005.10:161689744:A:G p.(Gln213=) NC_000005.10:161689744:A:G p.(Gln213=) NC_000005.10:161689744:A:G Identity +LRG_1122t1:c.5190G>A LRG_1122p1:p.Pro1730= NC_000009.12:136502465:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +LRG_1122t1:c.804C>T LRG_1122p1:p.Asn268= NC_000009.12:136519503:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000540.3:c.14070G>A NP_000531.2:p.Thr4690= NC_000019.10:38573247:G:A p.(Thr4690=) NC_000019.10:38573247:G:A p.(Thr4690=) NC_000019.10:38573247:G:A Identity +NM_001161520.2:c.963A>G NP_001154992.2:p.Gln321= NC_000007.14:107362095:T:C p.(Gln321=) NC_000007.14:107362095:T:C p.(Gln321=) NC_000007.14:107362095:T:C Identity +NM_000051.4:c.2634C>G NP_000042.3:p.Thr878= NC_000011.10:108267337:C:G p.(Thr878=) NC_000011.10:108267337:C:G p.(Thr878=) NC_000011.10:108267337:C:G Identity +NM_000059.4:c.8880A>G NP_000050.3:p.Gln2960= NC_000013.11:32379441:A:G p.(Gln2960=) NC_000013.11:32379441:A:G p.(Gln2960=) NC_000013.11:32379441:A:G Identity +NM_000059.4:c.6042A>G NP_000050.3:p.Val2014= NC_000013.11:32340396:A:G p.(Val2014=) NC_000013.11:32340396:A:G p.(Val2014=) NC_000013.11:32340396:A:G Identity +NM_000249.4:c.1533A>G NP_000240.1:p.Glu511= NC_000003.12:37028906:A:G p.(Glu511=) NC_000003.12:37028906:A:G p.(Glu511=) NC_000003.12:37028906:A:G Identity +NM_001330347.2:c.351C>T NP_001317276.1:p.Asn117= NC_000011.10:94479724:G:A p.(Asn117=) NC_000011.10:94479724:G:A p.(Asn117=) NC_000011.10:94479724:G:A Identity +NM_001330347.2:c.1716A>G NP_001317276.1:p.Arg572= NC_000011.10:94447285:T:C p.(Arg572=) NC_000011.10:94447285:T:C p.(Arg572=) NC_000011.10:94447285:T:C Identity +NM_005732.4:c.1209A>G NP_005723.2:p.Arg403= NC_000005.10:132588843:A:G p.(Arg403=) NC_000005.10:132588843:A:G p.(Arg403=) NC_000005.10:132588843:A:G Identity +NM_005732.4:c.2505A>G NP_005723.2:p.Lys835= NC_000005.10:132604026:A:G p.(Lys835=) NC_000005.10:132604026:A:G p.(Lys835=) NC_000005.10:132604026:A:G Identity +NM_001142571.2:c.786C>T NP_001136043.1:p.Gly262= NC_000017.11:35103265:G:A p.(Gly262=) NC_000017.11:35103265:G:A p.(Gly262=) NC_000017.11:35103265:G:A Identity +NM_001128849.3:c.4260G>A NP_001122321.1:p.Ala1420= NC_000019.10:11039546:G:A p.(Ala1420=) NC_000019.10:11039546:G:A p.(Ala1420=) NC_000019.10:11039546:G:A Identity +NM_001128844.3:c.3726G>A NP_001122316.1:p.Glu1242= NC_000019.10:11033468:G:A p.(Glu1242=) NC_000019.10:11033468:G:A p.(Glu1242=) NC_000019.10:11033468:G:A Identity +NM_004656.4:c.870C>T NP_004647.1:p.Asn290= NC_000003.12:52405825:G:A p.(Asn290=) NC_000003.12:52405825:G:A p.(Asn290=) NC_000003.12:52405825:G:A Identity +NM_000059.4:c.765C>T NP_000050.3:p.Asn255= NC_000013.11:32331001:C:T p.(Asn255=) NC_000013.11:32331001:C:T p.(Asn255=) NC_000013.11:32331001:C:T Identity +NM_000051.4:c.2949C>T NP_000042.3:p.Asp983= NC_000011.10:108271277:C:T p.(Asp983=) NC_000011.10:108271277:C:T p.(Asp983=) NC_000011.10:108271277:C:T Identity +NM_000051.4:c.3538del NP_000042.3:p.Ser1179_Val1180insTer NC_000011.10:108281129:G: p.(Val1180Ter) NC_000011.10:108281129:G: p.(Val1180Ter) NC_000011.10:108281129:G: Analogous +NM_000465.4:c.273del NP_000456.2:p.Ala90_Trp91insTer NC_000002.12:214792387:CC:C p.(Trp91Ter) NC_000002.12:214792387:CC:C p.(Trp91Ter) NC_000002.12:214792387:C: Analogous +LRG_297t1:c.1329T>A LRG_297p1:p.Ser443= NC_000002.12:214769297:A:T ERR:Data provider error: ValueError: Transcript LRG_297t1 not found ERR:Data provider error: ValueError: Transcript LRG_297t1 not found ERR:AlignmentMapper(tx_ac=LRG_297t1, alt_ac=LRG_297t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_297t1, alt_ac=LRG_297t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_297t1 not found +NM_000038.6:c.1614A>G NP_000029.2:p.Glu538= NC_000005.10:112827993:A:G p.(Glu538=) NC_000005.10:112827993:A:G p.(Glu538=) NC_000005.10:112827993:A:G Identity +NM_000038.6:c.4542A>G NP_000029.2:p.Pro1514= NC_000005.10:112840135:A:G p.(Pro1514=) NC_000005.10:112840135:A:G p.(Pro1514=) NC_000005.10:112840135:A:G Identity +NM_000038.6:c.4668T>G NP_000029.2:p.Thr1556= NC_000005.10:112840261:T:G p.(Thr1556=) NC_000005.10:112840261:T:G p.(Thr1556=) NC_000005.10:112840261:T:G Identity +NM_000051.4:c.5457A>G NP_000042.3:p.Thr1819= NC_000011.10:108302989:A:G p.(Thr1819=) NC_000011.10:108302989:A:G p.(Thr1819=) NC_000011.10:108302989:A:G Identity +NM_000051.4:c.5349A>G NP_000042.3:p.Glu1783= NC_000011.10:108302881:A:G p.(Glu1783=) NC_000011.10:108302881:A:G p.(Glu1783=) NC_000011.10:108302881:A:G Identity +NM_000465.4:c.1920A>C NP_000456.2:p.Leu640= NC_000002.12:214730491:T:G p.(Leu640=) NC_000002.12:214730491:T:G p.(Leu640=) NC_000002.12:214730491:T:G Identity +NM_000465.4:c.2277T>C NP_000456.2:p.Pro759= NC_000002.12:214728732:A:G p.(Pro759=) NC_000002.12:214728732:A:G p.(Pro759=) NC_000002.12:214728732:A:G Identity +NM_000465.4:c.1273_1281del NP_000456.2:p.Asn425_Arg427del NC_000002.12:214780592:TCTATGATTTCT:TCT p.(Asn425_Arg427del) NC_000002.12:214780592:TCTATGATTTCT:TCT p.(Asn425_Arg427del) NC_000002.12:214780592:TCTATGATT: Identity +NM_001317184.2:c.342C>G NP_001304113.1:p.Val114= NC_000016.10:68801847:C:G p.(Val114=) NC_000016.10:68801847:C:G p.(Val114=) NC_000016.10:68801847:C:G Identity +NM_001195573.1:c.2427C>G NP_001182502.1:p.Pro809= NC_000014.9:95108332:G:C p.(Pro809=) NC_000014.9:95108332:G:C p.(Pro809=) NC_000014.9:95108332:G:C Identity +NM_000249.4:c.2205A>C NP_000240.1:p.Thr735= NC_000003.12:37050586:A:C p.(Thr735=) NC_000003.12:37050586:A:C p.(Thr735=) NC_000003.12:37050586:A:C Identity +NM_001330347.2:c.1278T>C NP_001317276.1:p.Thr426= NC_000011.10:94460983:A:G p.(Thr426=) NC_000011.10:94460983:A:G p.(Thr426=) NC_000011.10:94460983:A:G Identity +NM_000251.3:c.75C>T NP_000242.1:p.Gly25= NC_000002.12:47403265:C:T p.(Gly25=) NC_000002.12:47403265:C:T p.(Gly25=) NC_000002.12:47403265:C:T Identity +NM_000251.3:c.2472A>G NP_000242.1:p.Gln824= NC_000002.12:47480708:A:G p.(Gln824=) NC_000002.12:47480708:A:G p.(Gln824=) NC_000002.12:47480708:A:G Identity +NM_000251.3:c.174C>T NP_000242.1:p.Phe58= NC_000002.12:47403364:C:T p.(Phe58=) NC_000002.12:47403364:C:T p.(Phe58=) NC_000002.12:47403364:C:T Identity +NM_001256849.1:c.534G>T NP_001243778.1:p.Gly178= NC_000019.10:50402068:G:T p.(Gly178=) NC_000019.10:50402068:G:T p.(Gly178=) NC_000019.10:50402068:G:T Identity +NM_006231.4:c.2994G>T NP_006222.2:p.Thr998= NC_000012.12:132661034:C:A p.(Thr998=) NC_000012.12:132661034:C:A p.(Thr998=) NC_000012.12:132661034:C:A Identity +NM_006231.4:c.3333G>A NP_006222.2:p.Arg1111= NC_000012.12:132657912:C:T p.(Arg1111=) NC_000012.12:132657912:C:T p.(Arg1111=) NC_000012.12:132657912:C:T Identity +NM_006231.4:c.462G>A NP_006222.2:p.Arg154= NC_000012.12:132679612:C:T p.(Arg154=) NC_000012.12:132679612:C:T p.(Arg154=) NC_000012.12:132679612:C:T Identity +NM_006231.4:c.2245C>A NP_006222.2:p.Arg749= NC_000012.12:132667576:G:T p.(Arg749=) NC_000012.12:132667576:G:T p.(Arg749=) NC_000012.12:132667576:G:T Identity +NM_001128844.3:c.4027_4029delinsTTG NP_001122316.1:p.Leu1343= NC_000019.10:11034988:CTC:TTG p.(Leu1343=) NC_000019.10:11034988:CTC:TTG p.(Leu1343=) NC_000019.10:11034988:CTC:TTG Identity +NM_000546.6:c.534C>T NP_000537.3:p.His178= NC_000017.11:7675077:G:A p.(His178=) NC_000017.11:7675077:G:A p.(His178=) NC_000017.11:7675077:G:A Identity +NM_001302959.2:c.384C>T NP_001289888.1:p.Asn128= NC_000011.10:67490129:C:T p.(Asn128=) NC_000011.10:67490129:C:T p.(Asn128=) NC_000011.10:67490129:C:T Identity +NM_001302959.2:c.789C>A NP_001289888.1:p.Ala263= NC_000011.10:67490965:C:A p.(Ala263=) NC_000011.10:67490965:C:A p.(Ala263=) NC_000011.10:67490965:C:A Identity +NM_004656.4:c.1797G>A NP_004647.1:p.Val599= NC_000003.12:52403230:C:T p.(Val599=) NC_000003.12:52403230:C:T p.(Val599=) NC_000003.12:52403230:C:T Identity +NM_004656.4:c.648C>T NP_004647.1:p.Leu216= NC_000003.12:52406839:G:A p.(Leu216=) NC_000003.12:52406839:G:A p.(Leu216=) NC_000003.12:52406839:G:A Identity +NM_001353229.2:c.120C>T NP_001340158.1:p.Gly40= NC_000017.11:17228017:G:A p.(Gly40=) NC_000017.11:17228017:G:A p.(Gly40=) NC_000017.11:17228017:G:A Identity +NM_001353229.2:c.891C>G NP_001340158.1:p.Thr297= NC_000017.11:17221570:G:C p.(Thr297=) NC_000017.11:17221570:G:C p.(Thr297=) NC_000017.11:17221570:G:C Identity +NM_024642.5:c.1515C>T NP_078918.3:p.Gly505= NC_000009.12:98846032:C:T p.(Gly505=) NC_000009.12:98846032:C:T p.(Gly505=) NC_000009.12:98846032:C:T Identity +NM_000244.4:c.1203C>T NP_000235.3:p.Gly401= NC_000011.10:64805195:G:A p.(Gly401=) NC_000011.10:64805195:G:A p.(Gly401=) NC_000011.10:64805195:G:A Identity +NM_000245.4:c.1305C>T NP_000236.2:p.Ser435= NC_000007.14:116731771:C:T p.(Ser435=) NC_000007.14:116731771:C:T p.(Ser435=) NC_000007.14:116731771:C:T Identity +NM_000245.4:c.1158C>T NP_000236.2:p.Leu386= NC_000007.14:116700241:C:T p.(Leu386=) NC_000007.14:116700241:C:T p.(Leu386=) NC_000007.14:116700241:C:T Identity +NM_001024688.3:c.372A>G NP_001019859.1:p.Gly124= NC_000008.11:89971256:T:C p.(Gly124=) NC_000008.11:89971256:T:C p.(Gly124=) NC_000008.11:89971256:T:C Identity +NM_000264.5:c.147T>C NP_000255.2:p.Tyr49= NC_000009.12:95508214:A:G p.(Tyr49=) NC_000009.12:95508214:A:G p.(Tyr49=) NC_000009.12:95508214:A:G Identity +NM_000264.5:c.3313C>T NP_000255.2:p.Leu1105= NC_000009.12:95453613:G:A p.(Leu1105=) NC_000009.12:95453613:G:A p.(Leu1105=) NC_000009.12:95453613:G:A Identity +NM_000038.6:c.42G>A NP_000029.2:p.Glu14= NC_000005.10:112754931:G:A p.(Glu14=) NC_000005.10:112754931:G:A p.(Glu14=) NC_000005.10:112754931:G:A Identity +NM_000038.6:c.5331A>G NP_000029.2:p.Lys1777= NC_000005.10:112840924:A:G p.(Lys1777=) NC_000005.10:112840924:A:G p.(Lys1777=) NC_000005.10:112840924:A:G Identity +NM_000179.3:c.942C>T NP_000170.1:p.Ser314= NC_000002.12:47798924:C:T p.(Ser314=) NC_000002.12:47798924:C:T p.(Ser314=) NC_000002.12:47798924:C:T Identity +NM_006231.4:c.2148G>A NP_006222.2:p.Ala716= NC_000012.12:132668380:C:T p.(Ala716=) NC_000012.12:132668380:C:T p.(Ala716=) NC_000012.12:132668380:C:T Identity +NM_006231.4:c.6351C>T NP_006222.2:p.Asn2117= NC_000012.12:132626296:G:A p.(Asn2117=) NC_000012.12:132626296:G:A p.(Asn2117=) NC_000012.12:132626296:G:A Identity +NM_024675.4:c.1221_1222delinsTC NP_078951.2:p.Glu407_Tyr408delinsAspHis NC_000016.10:23635323:AT:GA p.(Glu407_Tyr408delinsAspHis) NC_000016.10:23635323:AT:GA p.(Glu407_Tyr408delinsAspHis) NC_000016.10:23635323:AT:GA Identity +NM_000535.7:c.1788_1789delinsGT NP_000526.2:p.Asn596_Thr597delinsLysSer NC_000007.14:5986975:TA:AC p.(Asn596_Thr597delinsLysSer) NC_000007.14:5986975:TA:AC p.(Asn596_Thr597delinsLysSer) NC_000007.14:5986975:TA:AC Identity +NM_000038.6:c.1503T>G NP_000029.2:p.Ala501= NC_000005.10:112827201:T:G p.(Ala501=) NC_000005.10:112827201:T:G p.(Ala501=) NC_000005.10:112827201:T:G Identity +NM_000038.6:c.1617C>T NP_000029.2:p.Asp539= NC_000005.10:112827996:C:T p.(Asp539=) NC_000005.10:112827996:C:T p.(Asp539=) NC_000005.10:112827996:C:T Identity +NM_000038.6:c.2451C>A NP_000029.2:p.Gly817= NC_000005.10:112838044:C:A p.(Gly817=) NC_000005.10:112838044:C:A p.(Gly817=) NC_000005.10:112838044:C:A Identity +NM_000038.6:c.4827A>G NP_000029.2:p.Pro1609= NC_000005.10:112840420:A:G p.(Pro1609=) NC_000005.10:112840420:A:G p.(Pro1609=) NC_000005.10:112840420:A:G Identity +NM_000038.6:c.4917A>G NP_000029.2:p.Pro1639= NC_000005.10:112840510:A:G p.(Pro1639=) NC_000005.10:112840510:A:G p.(Pro1639=) NC_000005.10:112840510:A:G Identity +NM_000051.4:c.1599A>G NP_000042.3:p.Arg533= NC_000011.10:108251063:A:G p.(Arg533=) NC_000011.10:108251063:A:G p.(Arg533=) NC_000011.10:108251063:A:G Identity +NM_000051.4:c.4822T>C NP_000042.3:p.Leu1608= NC_000011.10:108294971:T:C p.(Leu1608=) NC_000011.10:108294971:T:C p.(Leu1608=) NC_000011.10:108294971:T:C Identity +NM_000051.4:c.5070T>C NP_000042.3:p.His1690= NC_000011.10:108299777:T:C p.(His1690=) NC_000011.10:108299777:T:C p.(His1690=) NC_000011.10:108299777:T:C Identity +NM_000051.4:c.5392C>T NP_000042.3:p.Leu1798= NC_000011.10:108302924:C:T p.(Leu1798=) NC_000011.10:108302924:C:T p.(Leu1798=) NC_000011.10:108302924:C:T Identity +NM_004656.4:c.1353G>A NP_004647.1:p.Lys451= NC_000003.12:52403791:C:T p.(Lys451=) NC_000003.12:52403791:C:T p.(Lys451=) NC_000003.12:52403791:C:T Identity +NM_004656.4:c.159C>T NP_004647.1:p.Ile53= NC_000003.12:52408569:G:A p.(Ile53=) NC_000003.12:52408569:G:A p.(Ile53=) NC_000003.12:52408569:G:A Identity +NM_004656.4:c.30C>T NP_004647.1:p.Ser10= NC_000003.12:52409848:G:A p.(Ser10=) NC_000003.12:52409848:G:A p.(Ser10=) NC_000003.12:52409848:G:A Identity +NM_004656.4:c.789A>T NP_004647.1:p.Ile263= NC_000003.12:52405906:T:A p.(Ile263=) NC_000003.12:52405906:T:A p.(Ile263=) NC_000003.12:52405906:T:A Identity +NM_004329.3:c.39C>T NP_004320.2:p.Ala13= NC_000010.11:86876056:C:T p.(Ala13=) NC_000010.11:86876056:C:T p.(Ala13=) NC_000010.11:86876056:C:T Identity +NM_001407636.1:c.2202A>G NP_001394565.1:p.Leu734= NC_000017.11:43093325:T:C p.(Leu734=) NC_000017.11:43093325:T:C p.(Leu734=) NC_000017.11:43093325:T:C Identity +NM_000059.4:c.1404A>G NP_000050.3:p.Arg468= NC_000013.11:32332881:A:G p.(Arg468=) NC_000013.11:32332881:A:G p.(Arg468=) NC_000013.11:32332881:A:G Identity +NM_000059.4:c.2826A>C NP_000050.3:p.Ser942= NC_000013.11:32337180:A:C p.(Ser942=) NC_000013.11:32337180:A:C p.(Ser942=) NC_000013.11:32337180:A:C Identity +NM_000059.4:c.4365A>G NP_000050.3:p.Glu1455= NC_000013.11:32338719:A:G p.(Glu1455=) NC_000013.11:32338719:A:G p.(Glu1455=) NC_000013.11:32338719:A:G Identity +NM_000059.4:c.7002C>T NP_000050.3:p.Pro2334= NC_000013.11:32346890:C:T p.(Pro2334=) NC_000013.11:32346890:C:T p.(Pro2334=) NC_000013.11:32346890:C:T Identity +NM_032043.3:c.2406C>T NP_114432.2:p.Asp802= NC_000017.11:61716036:G:A p.(Asp802=) NC_000017.11:61716036:G:A p.(Asp802=) NC_000017.11:61716036:G:A Identity +NM_032043.3:c.2934G>A NP_114432.2:p.Gly978= NC_000017.11:61684111:C:T p.(Gly978=) NC_000017.11:61684111:C:T p.(Gly978=) NC_000017.11:61684111:C:T Identity +NM_001317184.2:c.1296G>C NP_001304113.1:p.Val432= NC_000016.10:68815672:G:C p.(Val432=) NC_000016.10:68815672:G:C p.(Val432=) NC_000016.10:68815672:G:C Identity +NM_000179.3:c.2307T>C NP_000170.1:p.Phe769= NC_000002.12:47800289:T:C p.(Phe769=) NC_000002.12:47800289:T:C p.(Phe769=) NC_000002.12:47800289:T:C Identity +NM_001024688.3:c.426G>A NP_001019859.1:p.Gly142= NC_000008.11:89971202:C:T p.(Gly142=) NC_000008.11:89971202:C:T p.(Gly142=) NC_000008.11:89971202:C:T Identity +NM_000314.8:c.795A>G NP_000305.3:p.Leu265= NC_000010.11:87958012:A:G p.(Leu265=) NC_000010.11:87958012:A:G p.(Leu265=) NC_000010.11:87958012:A:G Identity +NM_001363746.1:c.276G>T NP_001350675.1:p.Val92= NC_000009.12:136199822:C:A p.(Val92=) NC_000009.12:136199822:C:A p.(Val92=) NC_000009.12:136199822:C:A Identity +NM_000059.4:c.9102G>A NP_000050.3:p.Gln3034= NC_000013.11:32379897:G:A p.(Gln3034=) NC_000013.11:32379897:G:A p.(Gln3034=) NC_000013.11:32379897:G:A Identity +NM_001303245.3:c.2163= NP_001290174.1:p.Leu721= NC_000003.12:141608631:G:G p.(Leu721=) NC_000003.12:141608631:G: p.(Leu721=) NC_000003.12:141608631:G:G Identity +NM_001407571.1:c.387A>G NP_001394500.1:p.Gly129= NC_000017.11:43095915:T:C p.(Gly129=) NC_000017.11:43095915:T:C p.(Gly129=) NC_000017.11:43095915:T:C Identity +NM_001142771.2:c.4848C>T NP_001136243.1:p.Ala1616= NC_000010.11:53806779:G:A p.(Ala1616=) NC_000010.11:53806779:G:A p.(Ala1616=) NC_000010.11:53806779:G:A Identity +NM_001357321.2:c.576C>T NP_001344250.1:p.Ile192= NC_000002.12:43852367:C:T p.(Ile192=) NC_000002.12:43852367:C:T p.(Ile192=) NC_000002.12:43852367:C:T Identity +NM_001363688.1:c.264T>C NP_001350617.1:p.Pro88= NC_000014.9:74484513:A:G p.(Pro88=) NC_000014.9:74484513:A:G p.(Pro88=) NC_000014.9:74484513:A:G Identity +NM_005199.5:c.330G>A NP_005190.4:p.Pro110= NC_000002.12:232540690:G:A p.(Pro110=) NC_000002.12:232540690:G:A p.(Pro110=) NC_000002.12:232540690:G:A Identity +NM_000445.5:c.708G>A NP_000436.2:p.Lys236= NC_000008.11:143935288:C:T p.(Lys236=) NC_000008.11:143935288:C:T p.(Lys236=) NC_000008.11:143935288:C:T Identity +NM_000784.4:c.624C>T NP_000775.1:p.Leu208= NC_000002.12:218812398:C:T p.(Leu208=) NC_000002.12:218812398:C:T p.(Leu208=) NC_000002.12:218812398:C:T Identity +NM_001193644.1:c.564G>A NP_001180573.1:p.Leu188= NC_000001.11:160282068:C:T p.(Leu188=) NC_000001.11:160282068:C:T p.(Leu188=) NC_000001.11:160282068:C:T Identity +NM_000843.4:c.1455C>T NP_000834.2:p.Gly485= NC_000005.10:178986882:G:A p.(Gly485=) NC_000005.10:178986882:G:A p.(Gly485=) NC_000005.10:178986882:G:A Identity +NM_006445.4:c.4524C>T NP_006436.3:p.Gly1508= NC_000017.11:1660811:G:A p.(Gly1508=) NC_000017.11:1660811:G:A p.(Gly1508=) NC_000017.11:1660811:G:A Identity +NM_001110792.2:c.417C>G NP_001104262.1:p.Pro139= NC_000023.11:154031446:G:C p.(Pro139=) NC_000023.11:154031446:G:C p.(Pro139=) NC_000023.11:154031446:G:C Identity +NM_001077182.3:c.867C>T NP_001070650.1:p.His289= NC_000017.11:81535091:C:T p.(His289=) NC_000017.11:81535091:C:T p.(His289=) NC_000017.11:81535091:C:T Identity +NM_000089.4:c.1008C>T NP_000080.2:p.Ala336= NC_000007.14:94409793:C:T p.(Ala336=) NC_000007.14:94409793:C:T p.(Ala336=) NC_000007.14:94409793:C:T Identity +NM_000026.4:c.408C>T NP_000017.1:p.Ala136= NC_000022.11:40354252:C:T p.(Ala136=) NC_000022.11:40354252:C:T p.(Ala136=) NC_000022.11:40354252:C:T Identity +NM_001291593.2:c.570C>T NP_001278522.1:p.Leu190= NC_000001.11:5904650:G:A p.(Leu190=) NC_000001.11:5904650:G:A p.(Leu190=) NC_000001.11:5904650:G:A Identity +NM_001256850.1:c.35877C>A NP_001243779.1:p.Ile11959= NC_000002.12:178639774:G:T p.(Ile11959=) NC_000002.12:178639774:G:T p.(Ile11959=) NC_000002.12:178639774:G:T Identity +NM_005477.3:c.321C>T NP_005468.1:p.Gly107= NC_000015.10:73367949:G:A p.(Gly107=) NC_000015.10:73367949:G:A p.(Gly107=) NC_000015.10:73367949:G:A Identity +NM_007254.4:c.1413T>C NP_009185.2:p.His471= NC_000019.10:49861483:A:G p.(His471=) NC_000019.10:49861483:A:G p.(His471=) NC_000019.10:49861483:A:G Identity +NM_016239.4:c.6729G>A NP_057323.3:p.Thr2243= NC_000017.11:18148532:G:A p.(Thr2243=) NC_000017.11:18148532:G:A p.(Thr2243=) NC_000017.11:18148532:G:A Identity +NM_001168647.3:c.2359C>T NP_001162118.1:p.Leu787= NC_000023.11:21609373:C:T p.(Leu787=) NC_000023.11:21609373:C:T p.(Leu787=) NC_000023.11:21609373:C:T Identity +NM_001256850.1:c.76788A>G NP_001243779.1:p.Glu25596= NC_000002.12:178564420:T:C p.(Glu25596=) NC_000002.12:178564420:T:C p.(Glu25596=) NC_000002.12:178564420:T:C Identity +NM_006946.4:c.1701G>A NP_008877.2:p.Glu567= NC_000011.10:66705789:C:T p.(Glu567=) NC_000011.10:66705789:C:T p.(Glu567=) NC_000011.10:66705789:C:T Identity +NM_001191028.3:c.57C>T NP_001177957.2:p.Tyr19= NC_000007.14:129054713:G:A p.(Tyr19=) NC_000007.14:129054713:G:A p.(Tyr19=) NC_000007.14:129054713:G:A Identity +NM_198525.3:c.1740G>A NP_940927.2:p.Pro580= NC_000015.10:89646877:C:T p.(Pro580=) NC_000015.10:89646877:C:T p.(Pro580=) NC_000015.10:89646877:C:T Identity +NM_000053.4:c.999G>T NP_000044.2:p.Gly333= NC_000013.11:51974220:C:A p.(Gly333=) NC_000013.11:51974220:C:A p.(Gly333=) NC_000013.11:51974220:C:A Identity +NM_001297764.2:c.360C>T NP_001284693.1:p.Gly120= NC_000011.10:17531180:G:A p.(Gly120=) NC_000011.10:17531180:G:A p.(Gly120=) NC_000011.10:17531180:G:A Identity +LRG_1199t1:c.1254T>C LRG_1199p1:p.Gly418= NC_000002.12:168976630:A:G ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001291902.2:c.2466C>G NP_001278831.1:p.Val822= NC_000011.10:68438542:C:G p.(Val822=) NC_000011.10:68438542:C:G p.(Val822=) NC_000011.10:68438542:C:G Identity +NM_000445.5:c.10647G>A NP_000436.2:p.Thr3549= NC_000008.11:143919254:C:T p.(Thr3549=) NC_000008.11:143919254:C:T p.(Thr3549=) NC_000008.11:143919254:C:T Identity +NM_138694.4:c.11607C>T NP_619639.3:p.Ala3869= NC_000006.12:51632622:G:A p.(Ala3869=) NC_000006.12:51632622:G:A p.(Ala3869=) NC_000006.12:51632622:G:A Identity +NM_138694.4:c.3834C>T NP_619639.3:p.Phe1278= NC_000006.12:52025975:G:A p.(Phe1278=) NC_000006.12:52025975:G:A p.(Phe1278=) NC_000006.12:52025975:G:A Identity +NM_000445.5:c.13389C>T NP_000436.2:p.Thr4463= NC_000008.11:143916512:G:A p.(Thr4463=) NC_000008.11:143916512:G:A p.(Thr4463=) NC_000008.11:143916512:G:A Identity +NM_002618.4:c.24C>A NP_002609.1:p.Pro8= NC_000002.12:61017782:C:A p.(Pro8=) NC_000002.12:61017782:C:A p.(Pro8=) NC_000002.12:61017782:C:A Identity +NM_001128175.2:c.126G>A NP_001121647.1:p.Arg42= NC_000018.10:34766018:G:A p.(Arg42=) NC_000018.10:34766018:G:A p.(Arg42=) NC_000018.10:34766018:G:A Identity +NM_206933.4:c.8457C>T NP_996816.3:p.Thr2819= NC_000001.11:215878864:G:A p.(Thr2819=) NC_000001.11:215878864:G:A p.(Thr2819=) NC_000001.11:215878864:G:A Identity +NM_206933.4:c.6882C>T NP_996816.3:p.Tyr2294= NC_000001.11:215970699:G:A p.(Tyr2294=) NC_000001.11:215970699:G:A p.(Tyr2294=) NC_000001.11:215970699:G:A Identity +NM_001368062.3:c.3669A>G NP_001354991.2:p.Ser1223= NC_000012.12:80320422:A:G p.(Ser1223=) NC_000012.12:80320422:A:G p.(Ser1223=) NC_000012.12:80320422:A:G Identity +NM_144991.3:c.942C>T NP_659428.2:p.Tyr314= NC_000021.9:44527498:G:A p.(Tyr314=) NC_000021.9:44527498:G:A p.(Tyr314=) NC_000021.9:44527498:G:A Identity +NM_001368265.1:c.472T>C NP_001355194.1:p.Leu158= NC_000010.11:25997221:T:C p.(Leu158=) NC_000010.11:25997221:T:C p.(Leu158=) NC_000010.11:25997221:T:C Identity +NM_000260.4:c.6384C>T NP_000251.3:p.Ile2128= NC_000011.10:77212980:C:T p.(Ile2128=) NC_000011.10:77212980:C:T p.(Ile2128=) NC_000011.10:77212980:C:T Identity +NM_001277269.2:c.7653G>T NP_001264198.1:p.Leu2551= NC_000011.10:17635110:G:T p.(Leu2551=) NC_000011.10:17635110:G:T p.(Leu2551=) NC_000011.10:17635110:G:T Identity +NM_032229.3:c.39T>A NP_115605.2:p.Leu13= NC_000013.11:85796469:A:T p.(Leu13=) NC_000013.11:85796469:A:T p.(Leu13=) NC_000013.11:85796469:A:T Identity +NM_020774.4:c.756A>C NP_065825.1:p.Val252= NC_000018.10:21779532:A:C p.(Val252=) NC_000018.10:21779532:A:C p.(Val252=) NC_000018.10:21779532:A:C Identity +NM_000739.3:c.549T>C NP_000730.1:p.Asn183= NC_000007.14:137015413:T:C p.(Asn183=) NC_000007.14:137015413:T:C p.(Asn183=) NC_000007.14:137015413:T:C Identity +NM_003098.3:c.219G>C NP_003089.1:p.Gly73= NC_000020.11:33443401:C:G p.(Gly73=) NC_000020.11:33443401:C:G p.(Gly73=) NC_000020.11:33443401:C:G Identity +NM_001145293.2:c.834G>A NP_001138765.1:p.Val278= NC_000003.12:25739623:C:T p.(Val278=) NC_000003.12:25739623:C:T p.(Val278=) NC_000003.12:25739623:C:T Identity +NM_001256850.1:c.33459C>G NP_001243779.1:p.Leu11153= NC_000002.12:178675069:G:C p.(Leu11153=) NC_000002.12:178675069:G:C p.(Leu11153=) NC_000002.12:178675069:G:C Identity +NM_001286075.2:c.1131A>G NP_001273004.1:p.Lys377= NC_000016.10:28898085:A:G p.(Lys377=) NC_000016.10:28898085:A:G p.(Lys377=) NC_000016.10:28898085:A:G Identity +NM_022114.4:c.1815G>A NP_071397.3:p.Glu605= NC_000001.11:3412011:G:A p.(Glu605=) NC_000001.11:3412011:G:A p.(Glu605=) NC_000001.11:3412011:G:A Identity +NM_004863.4:c.1320A>G NP_004854.1:p.Gln440= NC_000014.9:77521564:T:C p.(Gln440=) NC_000014.9:77521564:T:C p.(Gln440=) NC_000014.9:77521564:T:C Identity +NM_001330086.2:c.249G>T NP_001317015.1:p.Leu83= NC_000002.12:51028024:C:A p.(Leu83=) NC_000002.12:51028024:C:A p.(Leu83=) NC_000002.12:51028024:C:A Identity +NM_007208.4:c.885C>T NP_009139.1:p.Cys295= NC_000003.12:131468099:G:A p.(Cys295=) NC_000003.12:131468099:G:A p.(Cys295=) NC_000003.12:131468099:G:A Identity +NM_001024847.3:c.714C>T NP_001020018.1:p.Ser238= NC_000003.12:30671821:C:T p.(Ser238=) NC_000003.12:30671821:C:T p.(Ser238=) NC_000003.12:30671821:C:T Identity +NM_001272073.2:c.1794A>C NP_001259002.1:p.Ala598= NC_000003.12:49098920:T:G p.(Ala598=) NC_000003.12:49098920:T:G p.(Ala598=) NC_000003.12:49098920:T:G Identity +NM_001242581.2:c.2565C>A NP_001229510.1:p.Thr855= NC_000020.11:20000665:C:A p.(Thr855=) NC_000020.11:20000665:C:A p.(Thr855=) NC_000020.11:20000665:C:A Identity +NM_001080779.2:c.2649C>A NP_001074248.1:p.Gly883= NC_000017.11:1468457:G:T p.(Gly883=) NC_000017.11:1468457:G:T p.(Gly883=) NC_000017.11:1468457:G:T Identity +NM_001354689.3:c.600T>C NP_001341618.1:p.Thr200= NC_000003.12:12606280:A:G p.(Thr200=) NC_000003.12:12606280:A:G p.(Thr200=) NC_000003.12:12606280:A:G Identity +NM_002180.3:c.1749C>T NP_002171.2:p.Asn583= NC_000011.10:68935414:C:T p.(Asn583=) NC_000011.10:68935414:C:T p.(Asn583=) NC_000011.10:68935414:C:T Identity +NM_001142401.3:c.363A>G NP_001135873.1:p.Thr121= NC_000006.12:109370435:T:C p.(Thr121=) NC_000006.12:109370435:T:C p.(Thr121=) NC_000006.12:109370435:T:C Identity +NM_000092.5:c.2907A>C NP_000083.3:p.Ser969= NC_000002.12:227052365:T:G p.(Ser969=) NC_000002.12:227052365:T:G p.(Ser969=) NC_000002.12:227052365:T:G Identity +NM_001293306.2:c.1914G>A NP_001280235.2:p.Leu638= NC_000003.12:38742482:C:T p.(Leu638=) NC_000003.12:38742482:C:T p.(Leu638=) NC_000003.12:38742482:C:T Identity +NM_000501.4:c.1287C>T NP_000492.2:p.Val429= NC_000007.14:74056406:C:T p.(Val429=) NC_000007.14:74056406:C:T p.(Val429=) NC_000007.14:74056406:C:T Identity +NM_001077365.2:c.1371C>T NP_001070833.1:p.Ser457= NC_000009.12:131518841:C:T p.(Ser457=) NC_000009.12:131518841:C:T p.(Ser457=) NC_000009.12:131518841:C:T Identity +NM_001256850.1:c.85797T>C NP_001243779.1:p.Asp28599= NC_000002.12:178552179:A:G p.(Asp28599=) NC_000002.12:178552179:A:G p.(Asp28599=) NC_000002.12:178552179:A:G Identity +NM_001407850.1:c.5142G>A NP_001394779.1:p.Gly1714= NC_000017.11:43051105:C:T p.(Gly1714=) NC_000017.11:43051105:C:T p.(Gly1714=) NC_000017.11:43051105:C:T Identity +NM_000059.4:c.5847T>C NP_000050.3:p.Asp1949= NC_000013.11:32340201:T:C p.(Asp1949=) NC_000013.11:32340201:T:C p.(Asp1949=) NC_000013.11:32340201:T:C Identity +NM_004369.4:c.6477C>T NP_004360.2:p.Asn2159= NC_000002.12:237357876:G:A p.(Asn2159=) NC_000002.12:237357876:G:A p.(Asn2159=) NC_000002.12:237357876:G:A Identity +NM_001378454.1:c.8211T>C NP_001365383.1:p.Thr2737= NC_000002.12:73490169:T:C p.(Thr2737=) NC_000002.12:73490169:T:C p.(Thr2737=) NC_000002.12:73490169:T:C Identity +NM_001164507.2:c.6318T>C NP_001157979.2:p.Tyr2106= NC_000002.12:151656329:A:G p.(Tyr2106=) NC_000002.12:151656329:A:G p.(Tyr2106=) NC_000002.12:151656329:A:G Identity +NM_001352301.2:c.1032C>T NP_001339230.1:p.Ala344= NC_000022.11:19880681:G:A p.(Ala344=) NC_000022.11:19880681:G:A p.? NC_000022.11:19880681:G:A Identity +NM_001321015.2:c.840C>T NP_001307944.1:p.Thr280= NC_000015.10:45362153:G:A p.(Thr280=) NC_000015.10:45362153:G:A p.(Thr280=) NC_000015.10:45362153:G:A Identity +NM_000540.3:c.9288C>T NP_000531.2:p.Phe3096= NC_000019.10:38512298:C:T p.(Phe3096=) NC_000019.10:38512298:C:T p.(Phe3096=) NC_000019.10:38512298:C:T Identity +NM_001352252.2:c.687G>A NP_001339181.1:p.Val229= NC_000013.11:110642464:C:T p.(Val229=) NC_000013.11:110642464:C:T p.(Val229=) NC_000013.11:110642464:C:T Identity +NM_001101362.3:c.222G>A NP_001094832.1:p.Ala74= NC_000015.10:65077036:G:A p.(Ala74=) NC_000015.10:65077036:G:A p.(Ala74=) NC_000015.10:65077036:G:A Identity +NM_001363850.1:c.516C>T NP_001350779.1:p.His172= NC_000016.10:89524144:C:T p.(His172=) NC_000016.10:89524144:C:T p.(His172=) NC_000016.10:89524144:C:T Identity +NM_001384158.1:c.870C>T NP_001371087.1:p.Asp290= NC_000014.9:91883068:G:A p.(Asp290=) NC_000014.9:91883068:G:A p.(Asp290=) NC_000014.9:91883068:G:A Identity +NM_001032283.3:c.153G>A NP_001027454.1:p.Pro51= NC_000012.12:98516019:G:A p.(Pro51=) NC_000012.12:98516019:G:A p.(Pro51=) NC_000012.12:98516019:G:A Identity +LRG_1122t1:c.5160C>T LRG_1122p1:p.Ala1720= NC_000009.12:136503188:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_020774.4:c.597T>C NP_065825.1:p.Asn199= NC_000018.10:21773688:T:C p.(Asn199=) NC_000018.10:21773688:T:C p.(Asn199=) NC_000018.10:21773688:T:C Identity +NM_000033.4:c.144G>A NP_000024.2:p.Ala48= NC_000023.11:153725409:G:A p.(Ala48=) NC_000023.11:153725409:G:A p.(Ala48=) NC_000023.11:153725409:G:A Identity +NM_001080463.2:c.11001G>A NP_001073932.1:p.Glu3667= NC_000011.10:103286343:G:A p.(Glu3667=) NC_000011.10:103286343:G:A p.(Glu3667=) NC_000011.10:103286343:G:A Identity +NM_001164507.2:c.5247C>T NP_001157979.2:p.Tyr1749= NC_000002.12:151664854:G:A p.(Tyr1749=) NC_000002.12:151664854:G:A p.(Tyr1749=) NC_000002.12:151664854:G:A Identity +NM_001367624.2:c.4611C>T NP_001354553.1:p.Gly1537= NC_000016.10:88432080:C:T p.(Gly1537=) NC_000016.10:88432080:C:T p.(Gly1537=) NC_000016.10:88432080:C:T Identity +NM_000833.5:c.801C>T NP_000824.1:p.Leu267= NC_000016.10:9938164:G:A p.(Leu267=) NC_000016.10:9938164:G:A p.(Leu267=) NC_000016.10:9938164:G:A Identity +NM_005431.2:c.492A>G NP_005422.1:p.Glu164= NC_000007.14:152648992:T:C p.(Glu164=) NC_000007.14:152648992:T:C p.(Glu164=) NC_000007.14:152648992:T:C Identity +NM_001141945.3:c.606C>T NP_001135417.1:p.Phe202= NC_000010.11:88941238:G:A p.(Phe202=) NC_000010.11:88941238:G:A p.(Phe202=) NC_000010.11:88941238:G:A Identity +NM_000891.3:c.222C>T NP_000882.1:p.Thr74= NC_000017.11:70175260:C:T p.(Thr74=) NC_000017.11:70175260:C:T p.(Thr74=) NC_000017.11:70175260:C:T Identity +NM_000048.4:c.1194C>T NP_000039.2:p.Ala398= NC_000007.14:66092606:C:T p.(Ala398=) NC_000007.14:66092606:C:T p.(Ala398=) NC_000007.14:66092606:C:T Identity +NM_001127453.2:c.1017G>A NP_001120925.1:p.Ser339= NC_000007.14:24706349:C:T p.(Ser339=) NC_000007.14:24706349:C:T p.(Ser339=) NC_000007.14:24706349:C:T Identity +NM_001382394.1:c.1827T>C NP_001369323.1:p.His609= NC_000002.12:39022579:A:G p.(His609=) NC_000002.12:39022579:A:G p.(His609=) NC_000002.12:39022579:A:G Identity +NM_001190709.2:c.3378A>G NP_001177638.1:p.Gly1126= NC_000001.11:102934553:T:C p.(Gly1126=) NC_000001.11:102934553:T:C p.(Gly1126=) NC_000001.11:102934553:T:C Identity +NM_001042529.3:c.805C>T NP_001035994.1:p.Leu269= NC_000017.11:42564064:C:T p.(Leu269=) NC_000017.11:42564064:C:T p.(Leu269=) NC_000017.11:42564064:C:T Identity +NM_033118.4:c.933G>C NP_149109.1:p.Leu311= NC_000020.11:31824312:G:C p.(Leu311=) NC_000020.11:31824312:G:C p.(Leu311=) NC_000020.11:31824312:G:C Identity +NM_000302.4:c.1461C>T NP_000293.2:p.Ile487= NC_000001.11:11964775:C:T p.(Ile487=) NC_000001.11:11964775:C:T p.(Ile487=) NC_000001.11:11964775:C:T Identity +NM_001271895.2:c.1107G>A NP_001258824.1:p.Leu369= NC_000001.11:150498615:G:A p.(Leu369=) NC_000001.11:150498615:G:A p.(Leu369=) NC_000001.11:150498615:G:A Identity +NM_001286075.2:c.1014G>A NP_001273004.1:p.Ser338= NC_000016.10:28894922:G:A p.(Ser338=) NC_000016.10:28894922:G:A p.(Ser338=) NC_000016.10:28894922:G:A Identity +NM_001272003.2:c.2538C>T NP_001258932.1:p.Ala846= NC_000009.12:135778765:C:T p.(Ala846=) NC_000009.12:135778765:C:T p.(Ala846=) NC_000009.12:135778765:C:T Identity +NM_001130455.2:c.2265T>C NP_001123927.1:p.Ala755= NC_000002.12:71561850:T:C p.(Ala755=) NC_000002.12:71561850:T:C p.(Ala755=) NC_000002.12:71561850:T:C Identity +NM_005120.3:c.5088G>A NP_005111.2:p.Pro1696= NC_000023.11:71136342:G:A p.(Pro1696=) NC_000023.11:71136342:G:A p.(Pro1696=) NC_000023.11:71136342:G:A Identity +NM_005506.4:c.468C>T NP_005497.1:p.Ile156= NC_000004.12:76179660:G:A p.(Ile156=) NC_000004.12:76179660:G:A p.(Ile156=) NC_000004.12:76179660:G:A Identity +NM_001372031.1:c.981C>T NP_001358960.1:p.Ala327= NC_000011.10:112039248:C:T p.(Ala327=) NC_000011.10:112039248:C:T p.(Ala327=) NC_000011.10:112039248:C:T Identity +NM_001320415.2:c.126G>A NP_001307344.1:p.Ala42= NC_000014.9:65076643:C:T p.(Ala42=) NC_000014.9:65076643:C:T p.(Ala42=) NC_000014.9:65076643:C:T Identity +NM_014244.5:c.3027C>T NP_055059.2:p.Phe1009= NC_000005.10:179122704:G:A p.(Phe1009=) NC_000005.10:179122704:G:A p.(Phe1009=) NC_000005.10:179122704:G:A Identity +NM_001277269.2:c.3870G>A NP_001264198.1:p.Val1290= NC_000011.10:17602333:G:A p.(Val1290=) NC_000011.10:17602333:G:A p.(Val1290=) NC_000011.10:17602333:G:A Identity +NM_001363722.2:c.321A>G NP_001350651.1:p.Leu107= NC_000006.12:69741810:T:C p.(Leu107=) NC_000006.12:69741810:T:C p.(Leu107=) NC_000006.12:69741810:T:C Identity +NM_000075.4:c.423G>C NP_000066.1:p.Leu141= NC_000012.12:57751021:C:G p.(Leu141=) NC_000012.12:57751021:C:G p.(Leu141=) NC_000012.12:57751021:C:G Identity +NM_013334.4:c.225C>T NP_037466.3:p.Ile75= NC_000003.12:49723287:G:A p.(Ile75=) NC_000003.12:49723287:G:A p.(Ile75=) NC_000003.12:49723287:G:A Identity +NM_001190709.2:c.5208T>C NP_001177638.1:p.Ile1736= NC_000001.11:102878114:A:G p.(Ile1736=) NC_000001.11:102878114:A:G p.(Ile1736=) NC_000001.11:102878114:A:G Identity +NM_000068.4:c.1993C>T NP_000059.3:p.Leu665= NC_000019.10:13303880:G:A p.(Leu665=) NC_000019.10:13303880:G:A p.(Leu665=) NC_000019.10:13303880:G:A Identity +LRG_1168t1:c.816T>G LRG_1168p1:p.Pro272= NC_000020.11:34935593:A:C ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found ERR:AlignmentMapper(tx_ac=LRG_1168t1, alt_ac=LRG_1168t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1168t1, alt_ac=LRG_1168t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1168t1 not found +NM_000088.4:c.4362C>T NP_000079.2:p.Phe1454= NC_000017.11:50185534:G:A p.(Phe1454=) NC_000017.11:50185534:G:A p.(Phe1454=) NC_000017.11:50185534:G:A Identity +NM_020774.4:c.2121A>G NP_065825.1:p.Leu707= NC_000018.10:21844162:A:G p.(Leu707=) NC_000018.10:21844162:A:G p.(Leu707=) NC_000018.10:21844162:A:G Identity +NM_001256850.1:c.81540A>G NP_001243779.1:p.Gly27180= NC_000002.12:178559668:T:C p.(Gly27180=) NC_000002.12:178559668:T:C p.(Gly27180=) NC_000002.12:178559668:T:C Identity +NM_000445.5:c.3465C>T NP_000436.2:p.Thr1155= NC_000008.11:143927868:G:A p.(Thr1155=) NC_000008.11:143927868:G:A p.(Thr1155=) NC_000008.11:143927868:G:A Identity +NM_014000.3:c.2823C>T NP_054706.1:p.Val941= NC_000010.11:74111985:C:T p.(Val941=) NC_000010.11:74111985:C:T p.(Val941=) NC_000010.11:74111985:C:T Identity +NM_001278531.2:c.1419T>C NP_001265460.1:p.Asn473= NC_000006.12:169775963:T:C p.(Asn473=) NC_000006.12:169775963:T:C p.(Asn473=) NC_000006.12:169775963:T:C Identity +NM_007254.4:c.291T>C NP_009185.2:p.Asn97= NC_000019.10:49865333:A:G p.(Asn97=) NC_000019.10:49865333:A:G p.(Asn97=) NC_000019.10:49865333:A:G Identity +NM_001164507.2:c.18870C>T NP_001157979.2:p.Asn6290= NC_000002.12:151562631:G:A p.(Asn6290=) NC_000002.12:151562631:G:A p.(Asn6290=) NC_000002.12:151562631:G:A Identity +NM_000465.4:c.1074A>G NP_000456.2:p.Pro358= NC_000002.12:214780799:T:C p.(Pro358=) NC_000002.12:214780799:T:C p.(Pro358=) NC_000002.12:214780799:T:C Identity +LRG_1122t1:c.708G>A LRG_1122p1:p.Thr236= NC_000009.12:136522883:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001363147.1:c.750G>A NP_001350076.1:p.Arg250= NC_000005.10:71635002:G:A p.(Arg250=) NC_000005.10:71635002:G:A p.(Arg250=) NC_000005.10:71635002:G:A Identity +NM_001367624.2:c.11070C>T NP_001354553.1:p.Ser3690= NC_000016.10:88438539:C:T p.(Ser3690=) NC_000016.10:88438539:C:T p.(Ser3690=) NC_000016.10:88438539:C:T Identity +NM_000426.4:c.3615G>A NP_000417.3:p.Thr1205= NC_000006.12:129315534:G:A p.(Thr1205=) NC_000006.12:129315534:G:A p.(Thr1205=) NC_000006.12:129315534:G:A Identity +NM_001128844.3:c.3645A>G NP_001122316.1:p.Leu1215= NC_000019.10:11033387:A:G p.(Leu1215=) NC_000019.10:11033387:A:G p.(Leu1215=) NC_000019.10:11033387:A:G Identity +NM_000093.5:c.5394G>A NP_000084.3:p.Thr1798= NC_000009.12:134842179:G:A p.(Thr1798=) NC_000009.12:134842179:G:A p.(Thr1798=) NC_000009.12:134842179:G:A Identity +LRG_1199t1:c.1062T>C LRG_1199p1:p.Tyr354= NC_000002.12:168986130:A:G ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_007254.4:c.906G>A NP_009185.2:p.Lys302= NC_000019.10:49862567:C:T p.(Lys302=) NC_000019.10:49862567:C:T p.(Lys302=) NC_000019.10:49862567:C:T Identity +NM_001352300.2:c.1104C>A NP_001339229.1:p.Pro368= NC_000022.11:19880696:G:T p.(Pro368=) NC_000022.11:19880696:G:T p.? NC_000022.11:19880696:G:T Identity +NM_001318872.2:c.873C>T NP_001305801.1:p.Cys291= NC_000006.12:5431140:C:T p.(Cys291=) NC_000006.12:5431140:C:T p.(Cys291=) NC_000006.12:5431140:C:T Identity +NM_021957.4:c.2007T>C NP_068776.2:p.Asp669= NC_000012.12:21537058:A:G p.(Asp669=) NC_000012.12:21537058:A:G p.(Asp669=) NC_000012.12:21537058:A:G Identity +NM_001042663.3:c.1467G>A NP_001036128.2:p.Leu489= NC_000001.11:6471025:C:T p.(Leu489=) NC_000001.11:6471025:C:T p.(Leu489=) NC_000001.11:6471025:C:T Identity +NM_001171930.2:c.2691C>T NP_001165401.1:p.Ala897= NC_000010.11:71702651:C:T p.(Ala897=) NC_000010.11:71702651:C:T p.(Ala897=) NC_000010.11:71702651:C:T Identity +NM_000260.4:c.639C>T NP_000251.3:p.Phe213= NC_000011.10:77156907:C:T p.(Phe213=) NC_000011.10:77156907:C:T p.(Phe213=) NC_000011.10:77156907:C:T Identity +NM_005982.4:c.114C>T NP_005973.1:p.Pro38= NC_000014.9:60649075:G:A p.(Pro38=) NC_000014.9:60649075:G:A p.(Pro38=) NC_000014.9:60649075:G:A Identity +NM_020778.5:c.24C>T NP_065829.4:p.Ser8= NC_000015.10:84817475:C:T p.(Ser8=) NC_000015.10:84817475:C:T p.(Ser8=) NC_000015.10:84817475:C:T Identity +NM_000702.4:c.2103A>T NP_000693.1:p.Gly701= NC_000001.11:160135282:A:T p.(Gly701=) NC_000001.11:160135282:A:T p.(Gly701=) NC_000001.11:160135282:A:T Identity +NM_001011649.3:c.5076A>G NP_001011649.1:p.Pro1692= NC_000009.12:120400879:T:C p.(Pro1692=) NC_000009.12:120400879:T:C p.(Pro1692=) NC_000009.12:120400879:T:C Identity +NM_001195610.2:c.1017C>T NP_001182539.1:p.Val339= NC_000006.12:24205007:G:A p.(Val339=) NC_000006.12:24205007:G:A p.(Val339=) NC_000006.12:24205007:G:A Identity +NM_002180.3:c.1524G>C NP_002171.2:p.Ser508= NC_000011.10:68933899:G:C p.(Ser508=) NC_000011.10:68933899:G:C p.(Ser508=) NC_000011.10:68933899:G:C Identity +NM_003276.2:c.1080A>G NP_003267.1:p.Leu360= NC_000012.12:98533336:A:G p.(Leu360=) NC_000012.12:98533336:A:G p.(Leu360=) NC_000012.12:98533336:A:G Identity +NM_001999.4:c.5196C>T NP_001990.2:p.Cys1732= NC_000005.10:128309986:G:A p.(Cys1732=) NC_000005.10:128309986:G:A p.(Cys1732=) NC_000005.10:128309986:G:A Identity +NM_007254.4:c.723G>A NP_009185.2:p.Glu241= NC_000019.10:49863984:C:T p.(Glu241=) NC_000019.10:49863984:C:T p.(Glu241=) NC_000019.10:49863984:C:T Identity +NM_001103146.3:c.2940A>G NP_001096616.1:p.Gln980= NC_000002.12:232844095:A:G p.(Gln980=) NC_000002.12:232844095:A:G p.(Gln980=) NC_000002.12:232844095:A:G Identity +NM_001105206.3:c.2214C>T NP_001098676.2:p.Thr738= NC_000006.12:112148295:G:A p.(Thr738=) NC_000006.12:112148295:G:A p.(Thr738=) NC_000006.12:112148295:G:A Identity +NM_001032283.3:c.328C>T NP_001027454.1:p.Leu110= NC_000012.12:98527933:C:T p.(Leu110=) NC_000012.12:98527933:C:T p.(Leu110=) NC_000012.12:98527933:C:T Identity +NM_005751.5:c.81G>A NP_005742.4:p.Ser27= NC_000007.14:91973742:G:A p.(Ser27=) NC_000007.14:91973742:G:A p.(Ser27=) NC_000007.14:91973742:G:A Identity +NM_001352773.2:c.1236G>A NP_001339702.1:p.Thr412= NC_000017.11:41763243:C:T p.(Thr412=) NC_000017.11:41763243:C:T p.(Thr412=) NC_000017.11:41763243:C:T Identity +NM_001148.6:c.7236A>T NP_001139.3:p.Ala2412= NC_000004.12:113355853:A:T p.(Ala2412=) NC_000004.12:113355853:A:T p.(Ala2412=) NC_000004.12:113355853:A:T Identity +NM_005477.3:c.2865G>A NP_005468.1:p.Pro955= NC_000015.10:73323227:C:T p.(Pro955=) NC_000015.10:73323227:C:T p.(Pro955=) NC_000015.10:73323227:C:T Identity +LRG_1122t1:c.645C>T LRG_1122p1:p.Cys215= NC_000009.12:136522946:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000302.4:c.1152C>T NP_000293.2:p.Asp384= NC_000001.11:11963585:C:T p.(Asp384=) NC_000001.11:11963585:C:T p.(Asp384=) NC_000001.11:11963585:C:T Identity +NM_000302.4:c.1209C>T NP_000293.2:p.Val403= NC_000001.11:11964180:C:T p.(Val403=) NC_000001.11:11964180:C:T p.(Val403=) NC_000001.11:11964180:C:T Identity +NM_001172309.2:c.547T>C NP_001165780.1:p.Leu183= NC_000001.11:77926766:T:C p.(Leu183=) NC_000001.11:77926766:T:C p.(Leu183=) NC_000001.11:77926766:T:C Identity +NM_001127207.2:c.1384_1389dup NP_001120679.1:p.Leu462_Gly463dup NC_000002.12:216432766:CTGGGG:CTGGGGCTGGGG p.(Leu462_Gly463dup) NC_000002.12:216432766:CTGGGG:CTGGGGCTGGGG p.(Leu462_Gly463dup) ERR:SPDI Identity +NM_000051.4:c.498A>G NP_000042.3:p.Glu166= NC_000011.10:108243953:A:G p.(Glu166=) NC_000011.10:108243953:A:G p.(Glu166=) NC_000011.10:108243953:A:G Identity +NM_000051.4:c.210A>G NP_000042.3:p.Lys70= NC_000011.10:108229201:A:G p.(Lys70=) NC_000011.10:108229201:A:G p.(Lys70=) NC_000011.10:108229201:A:G Identity +NM_000051.4:c.2862T>C NP_000042.3:p.Leu954= NC_000011.10:108271086:T:C p.(Leu954=) NC_000011.10:108271086:T:C p.(Leu954=) NC_000011.10:108271086:T:C Identity +NM_000057.4:c.1245T>C NP_000048.1:p.Asp415= NC_000015.10:90760617:T:C p.(Asp415=) NC_000015.10:90760617:T:C p.(Asp415=) NC_000015.10:90760617:T:C Identity +NM_000081.4:c.5883A>G NP_000072.2:p.Gln1961= NC_000001.11:235770198:T:C p.(Gln1961=) NC_000001.11:235770198:T:C p.(Gln1961=) NC_000001.11:235770198:T:C Identity +NM_000081.4:c.1674G>A NP_000072.2:p.Leu558= NC_000001.11:235809143:C:T p.(Leu558=) NC_000001.11:235809143:C:T p.(Leu558=) NC_000001.11:235809143:C:T Identity +NM_000251.3:c.294_295del NP_000242.1:p.Tyr98_Arg99delinsTer NC_000002.12:47408480:TATA:TA p.(Tyr98Ter) NC_000002.12:47408480:TATA:TA p.(Tyr98Ter) NC_000002.12:47408482:TA: Analogous +NM_000249.4:c.1731G>T NP_000240.1:p.Ser577= NC_000003.12:37042330:G:T p.(Ser577=) NC_000003.12:37042330:G:T p.(Ser577=) NC_000003.12:37042330:G:T Identity +NM_000251.3:c.1373del NP_000242.1:p.Thr457_Leu458insTer NC_000002.12:47445641:TTT:TT p.(Leu458Ter) NC_000002.12:47445641:TTT:TT p.(Leu458Ter) NC_000002.12:47445643:T: Analogous +NM_000251.3:c.501T>C NP_000242.1:p.Asp167= NC_000002.12:47410227:T:C p.(Asp167=) NC_000002.12:47410227:T:C p.(Asp167=) NC_000002.12:47410227:T:C Identity +NM_000249.4:c.708A>G NP_000240.1:p.Lys236= NC_000003.12:37014461:A:G p.(Lys236=) NC_000003.12:37014461:A:G p.(Lys236=) NC_000003.12:37014461:A:G Identity +NM_001127198.5:c.369C>T NP_001120670.1:p.Ser123= NC_000017.11:78125786:G:A p.(Ser123=) NC_000017.11:78125786:G:A p.(Ser123=) NC_000017.11:78125786:G:A Identity +NM_002506.3:c.645C>T NP_002497.2:p.Gly215= NC_000001.11:115286150:G:A p.(Gly215=) NC_000001.11:115286150:G:A p.(Gly215=) NC_000001.11:115286150:G:A Identity +NM_001148.6:c.6711A>G NP_001139.3:p.Ala2237= NC_000004.12:113355328:A:G p.(Ala2237=) NC_000004.12:113355328:A:G p.(Ala2237=) NC_000004.12:113355328:A:G Identity +NM_000719.7:c.3363G>A NP_000710.5:p.Leu1121= NC_000012.12:2608516:G:A p.(Leu1121=) NC_000012.12:2608516:G:A p.(Leu1121=) NC_000012.12:2608516:G:A Identity +NM_001379277.1:c.2217C>T NP_001366206.1:p.Asp739= NC_000007.14:92079704:C:T p.(Asp739=) NC_000007.14:92079704:C:T p.(Asp739=) NC_000007.14:92079704:C:T Identity +NM_000238.4:c.2889C>T NP_000229.1:p.Pro963= NC_000007.14:150947681:G:A p.(Pro963=) NC_000007.14:150947681:G:A p.(Pro963=) NC_000007.14:150947681:G:A Identity +NM_005732.4:c.909A>G NP_005723.2:p.Gln303= NC_000005.10:132587946:A:G p.(Gln303=) NC_000005.10:132587946:A:G p.(Gln303=) NC_000005.10:132587946:A:G Identity +NM_005732.4:c.2017C>T NP_005723.2:p.Leu673= NC_000005.10:132595619:C:T p.(Leu673=) NC_000005.10:132595619:C:T p.(Leu673=) NC_000005.10:132595619:C:T Identity +NM_005732.4:c.2457A>T NP_005723.2:p.Ile819= NC_000005.10:132603978:A:T p.(Ile819=) NC_000005.10:132603978:A:T p.(Ile819=) NC_000005.10:132603978:A:T Identity +NM_024110.4:c.1662C>T NP_077015.2:p.Gly554= NC_000017.11:80198401:C:T p.(Gly554=) NC_000017.11:80198401:C:T p.(Gly554=) NC_000017.11:80198401:C:T Identity +NM_024110.4:c.1758C>T NP_077015.2:p.Ile586= NC_000017.11:80198497:C:T p.(Ile586=) NC_000017.11:80198497:C:T p.(Ile586=) NC_000017.11:80198497:C:T Identity +NM_015346.4:c.5433G>A NP_056161.2:p.Pro1811= NC_000014.9:67772097:C:T p.(Pro1811=) NC_000014.9:67772097:C:T p.(Pro1811=) NC_000014.9:67772097:C:T Identity +NM_000546.6:c.470_475dup NP_000537.3:p.Val157_Arg158dup NC_000017.11:7675136:CGCGGACGCGG:CGCGGACGCGGACGCGG p.(Val157_Arg158dup) NC_000017.11:7675136:CGCGGACGCGG:CGCGGACGCGGACGCGG p.(Val157_Arg158dup) ERR:SPDI Identity +NM_000383.4:c.600G>A NP_000374.1:p.Pro200= NC_000021.9:44288405:G:A p.(Pro200=) NC_000021.9:44288405:G:A p.(Pro200=) NC_000021.9:44288405:G:A Identity +NM_000033.4:c.1047C>A NP_000024.2:p.Val349= NC_000023.11:153729377:C:A p.(Val349=) NC_000023.11:153729377:C:A p.(Val349=) NC_000023.11:153729377:C:A Identity +NM_001126131.2:c.2628C>T NP_001119603.1:p.Ala876= NC_000015.10:89321230:G:A p.(Ala876=) NC_000015.10:89321230:G:A p.(Ala876=) NC_000015.10:89321230:G:A Identity +NM_001999.4:c.6975T>A NP_001990.2:p.Pro2325= NC_000005.10:128286754:A:T p.(Pro2325=) NC_000005.10:128286754:A:T p.(Pro2325=) NC_000005.10:128286754:A:T Identity +NM_000222.3:c.2562C>G NP_000213.1:p.Ser854= NC_000004.12:54736574:C:G p.(Ser854=) NC_000004.12:54736574:C:G p.(Ser854=) NC_000004.12:54736574:C:G Identity +NM_001347827.2:c.2142T>C NP_001334756.1:p.Asp714= NC_000004.12:54278500:T:C p.(Asp714=) NC_000004.12:54278500:T:C p.(Asp714=) NC_000004.12:54278500:T:C Identity +NM_000168.6:c.4638A>G NP_000159.3:p.Pro1546= NC_000007.14:41964434:T:C p.(Pro1546=) NC_000007.14:41964434:T:C p.(Pro1546=) NC_000007.14:41964434:T:C Identity +NM_001039885.3:c.210C>T NP_001034974.1:p.Phe70= NC_000019.10:46755659:C:T p.(Phe70=) NC_000019.10:46755659:C:T p.(Phe70=) NC_000019.10:46755659:C:T Identity +NM_004260.4:c.1848C>T NP_004251.4:p.Asn616= NC_000008.11:144514218:G:A p.(Asn616=) NC_000008.11:144514218:G:A p.(Asn616=) NC_000008.11:144514218:G:A Identity +NM_001178129.2:c.720T>C NP_001171600.1:p.Asn240= NC_000007.14:83405972:A:G p.(Asn240=) NC_000007.14:83405972:A:G p.(Asn240=) NC_000007.14:83405972:A:G Identity +NM_001378454.1:c.1965G>A NP_001365383.1:p.Val655= NC_000002.12:73448491:G:A p.(Val655=) NC_000002.12:73448491:G:A p.(Val655=) NC_000002.12:73448491:G:A Identity +NM_001378454.1:c.10947T>C NP_001365383.1:p.Ser3649= NC_000002.12:73572823:T:C p.(Ser3649=) NC_000002.12:73572823:T:C p.(Ser3649=) NC_000002.12:73572823:T:C Identity +NM_001005407.2:c.4965C>A NP_001005407.1:p.Val1655= NC_000016.10:1215024:C:A p.(Val1655=) NC_000016.10:1215024:C:A p.(Val1655=) NC_000016.10:1215024:C:A Identity +NM_001005407.2:c.993C>A NP_001005407.1:p.Gly331= NC_000016.10:1200444:C:A p.(Gly331=) NC_000016.10:1200444:C:A p.(Gly331=) NC_000016.10:1200444:C:A Identity +NM_001005407.2:c.1869C>T NP_001005407.1:p.Ser623= NC_000016.10:1202318:C:T p.(Ser623=) NC_000016.10:1202318:C:T p.(Ser623=) NC_000016.10:1202318:C:T Identity +NM_000017.4:c.204G>A NP_000008.1:p.Ala68= NC_000012.12:120727182:G:A p.(Ala68=) NC_000012.12:120727182:G:A p.(Ala68=) NC_000012.12:120727182:G:A Identity +NM_001128227.3:c.390T>C NP_001121699.1:p.Leu130= NC_000009.12:36246349:A:G p.(Leu130=) NC_000009.12:36246349:A:G p.(Leu130=) NC_000009.12:36246349:A:G Identity +NM_012275.3:c.411C>T NP_036407.1:p.Pro137= NC_000002.12:113062619:C:T p.(Pro137=) NC_000002.12:113062619:C:T p.(Pro137=) NC_000002.12:113062619:C:T Identity +NM_000465.4:c.1125A>G NP_000456.2:p.Thr375= NC_000002.12:214780748:T:C p.(Thr375=) NC_000002.12:214780748:T:C p.(Thr375=) NC_000002.12:214780748:T:C Identity +NM_001145265.2:c.495C>T NP_001138737.1:p.Ile165= NC_000011.10:45806334:C:T p.(Ile165=) NC_000011.10:45806334:C:T p.(Ile165=) NC_000011.10:45806334:C:T Identity +NM_001207055.2:c.1911T>C NP_001193984.1:p.Val637= NC_000020.11:32801377:T:C p.(Val637=) NC_000020.11:32801377:T:C p.(Val637=) NC_000020.11:32801377:T:C Identity +NM_001280541.2:c.2658G>A NP_001267470.1:p.Ala886= NC_000003.12:129506439:G:A p.(Ala886=) NC_000003.12:129506439:G:A p.(Ala886=) NC_000003.12:129506439:G:A Identity +NM_017541.4:c.24T>A NP_060011.1:p.Ile8= NC_000003.12:186539594:A:T p.(Ile8=) NC_000003.12:186539594:A:T p.(Ile8=) NC_000003.12:186539594:A:T Identity +NM_004104.5:c.879C>T NP_004095.4:p.His293= NC_000017.11:82092711:G:A p.(His293=) NC_000017.11:82092711:G:A p.(His293=) NC_000017.11:82092711:G:A Identity +NM_001036.6:c.13938A>G NP_001027.3:p.Leu4646= NC_000015.10:33854842:A:G p.(Leu4646=) NC_000015.10:33854842:A:G p.(Leu4646=) NC_000015.10:33854842:A:G Identity +NM_004104.5:c.4128G>A NP_004095.4:p.Ala1376= NC_000017.11:82085396:C:T p.(Ala1376=) NC_000017.11:82085396:C:T p.(Ala1376=) NC_000017.11:82085396:C:T Identity +NM_004104.5:c.1854C>T NP_004095.4:p.Gly618= NC_000017.11:82090390:G:A p.(Gly618=) NC_000017.11:82090390:G:A p.(Gly618=) NC_000017.11:82090390:G:A Identity +NM_004104.5:c.3033C>T NP_004095.4:p.Ala1011= NC_000017.11:82087694:G:A p.(Ala1011=) NC_000017.11:82087694:G:A p.(Ala1011=) NC_000017.11:82087694:G:A Identity +NM_004104.5:c.6189C>T NP_004095.4:p.Ile2063= NC_000017.11:82081817:G:A p.(Ile2063=) NC_000017.11:82081817:G:A p.(Ile2063=) NC_000017.11:82081817:G:A Identity +NM_000059.4:c.4704G>A NP_000050.3:p.Lys1568= NC_000013.11:32339058:G:A p.(Lys1568=) NC_000013.11:32339058:G:A p.(Lys1568=) NC_000013.11:32339058:G:A Identity +NM_001407571.1:c.4053G>A NP_001394500.1:p.Gly1351= NC_000017.11:43082494:C:T p.(Gly1351=) NC_000017.11:43082494:C:T p.(Gly1351=) NC_000017.11:43082494:C:T Identity +NM_000059.4:c.7821T>C NP_000050.3:p.Thr2607= NC_000013.11:32362537:T:C p.(Thr2607=) NC_000013.11:32362537:T:C p.(Thr2607=) NC_000013.11:32362537:T:C Identity +NM_024529.5:c.879C>T NP_078805.3:p.Tyr293= NC_000001.11:193150353:C:T p.(Tyr293=) NC_000001.11:193150353:C:T p.(Tyr293=) NC_000001.11:193150353:C:T Identity +NM_024529.5:c.1572G>A NP_078805.3:p.Lys524= NC_000001.11:193250687:G:A p.(Lys524=) NC_000001.11:193250687:G:A p.(Lys524=) NC_000001.11:193250687:G:A Identity +NM_001354263.2:c.2778C>T NP_001341192.1:p.His926= NC_000009.12:137811546:C:T p.(His926=) NC_000009.12:137811546:C:T p.(His926=) NC_000009.12:137811546:C:T Identity +NM_012414.4:c.4161C>T NP_036546.2:p.Ala1387= NC_000001.11:220151271:G:A p.(Ala1387=) NC_000001.11:220151271:G:A p.(Ala1387=) NC_000001.11:220151271:G:A Identity +NM_001257281.2:c.1056A>G NP_001244210.1:p.Leu352= NC_000002.12:232163563:A:G p.(Leu352=) NC_000002.12:232163563:A:G p.(Leu352=) NC_000002.12:232163563:A:G Identity +NM_152383.5:c.1836G>T NP_689596.4:p.Pro612= NC_000002.12:232329908:G:T p.(Pro612=) NC_000002.12:232329908:G:T p.(Pro612=) NC_000002.12:232329908:G:T Identity +NM_001293306.2:c.2484C>T NP_001280235.2:p.Pro828= NC_000003.12:38728697:G:A p.(Pro828=) NC_000003.12:38728697:G:A p.(Pro828=) NC_000003.12:38728697:G:A Identity +NM_001377541.1:c.1260C>T NP_001364470.1:p.Ile420= NC_000003.12:57890050:C:T p.(Ile420=) NC_000003.12:57890050:C:T p.(Ile420=) NC_000003.12:57890050:C:T Identity +NM_030943.4:c.735C>T NP_112205.2:p.Pro245= NC_000014.9:102929510:C:T p.(Pro245=) NC_000014.9:102929510:C:T p.(Pro245=) NC_000014.9:102929510:C:T Identity +NM_003036.4:c.930A>G NP_003027.1:p.Lys310= NC_000001.11:2229695:A:G p.(Lys310=) NC_000001.11:2229695:A:G p.(Lys310=) NC_000001.11:2229695:A:G Identity +NM_003079.5:c.369G>A NP_003070.3:p.Lys123= NC_000017.11:40636394:C:T p.(Lys123=) NC_000017.11:40636394:C:T p.(Lys123=) NC_000017.11:40636394:C:T Identity +NM_003079.5:c.606C>G NP_003070.3:p.Leu202= NC_000017.11:40632302:G:C p.(Leu202=) NC_000017.11:40632302:G:C p.(Leu202=) NC_000017.11:40632302:G:C Identity +NM_004501.3:c.2061T>C NP_004492.2:p.His687= NC_000001.11:244855952:A:G p.(His687=) NC_000001.11:244855952:A:G p.(His687=) NC_000001.11:244855952:A:G Identity +NM_004637.6:c.414G>T NP_004628.4:p.Arg138= NC_000003.12:128807556:G:T p.(Arg138=) NC_000003.12:128807556:G:T p.(Arg138=) NC_000003.12:128807556:G:T Identity +NM_000171.4:c.483C>G NP_000162.2:p.Thr161= NC_000005.10:151856376:G:C p.(Thr161=) NC_000005.10:151856376:G:C p.(Thr161=) NC_000005.10:151856376:G:C Identity +NM_014908.4:c.1149T>C NP_055723.1:p.Pro383= NC_000009.12:128946154:A:G p.(Pro383=) NC_000009.12:128946154:A:G p.(Pro383=) NC_000009.12:128946154:A:G Identity +NM_001363813.1:c.1629C>T NP_001350742.1:p.Cys543= NC_000017.11:65537406:G:A p.(Cys543=) NC_000017.11:65537406:G:A p.(Cys543=) NC_000017.11:65537406:G:A Identity +NM_001363813.1:c.477T>C NP_001350742.1:p.Asp159= NC_000017.11:65558143:A:G p.(Asp159=) NC_000017.11:65558143:A:G p.(Asp159=) NC_000017.11:65558143:A:G Identity +NM_003334.4:c.2094G>A NP_003325.2:p.Gln698= NC_000023.11:47210017:G:A p.(Gln698=) NC_000023.11:47210017:G:A p.(Gln698=) NC_000023.11:47210017:G:A Identity +NM_001540.5:c.243C>T NP_001531.1:p.Leu81= NC_000007.14:76302954:C:T p.(Leu81=) NC_000007.14:76302954:C:T p.(Leu81=) NC_000007.14:76302954:C:T Identity +NM_001164507.2:c.8601C>T NP_001157979.2:p.Tyr2867= NC_000002.12:151640438:G:A p.(Tyr2867=) NC_000002.12:151640438:G:A p.(Tyr2867=) NC_000002.12:151640438:G:A Identity +NM_001164507.2:c.144C>T NP_001157979.2:p.Ser48= NC_000002.12:151727840:G:A p.(Ser48=) NC_000002.12:151727840:G:A p.(Ser48=) NC_000002.12:151727840:G:A Identity +NM_001164507.2:c.20199C>T NP_001157979.2:p.Ile6733= NC_000002.12:151547696:G:A p.(Ile6733=) NC_000002.12:151547696:G:A p.(Ile6733=) NC_000002.12:151547696:G:A Identity +NM_001100112.2:c.3531C>T NP_001093582.1:p.Phe1177= NC_000017.11:10528902:G:A p.(Phe1177=) NC_000017.11:10528902:G:A p.(Phe1177=) NC_000017.11:10528902:G:A Identity +LRG_1234t1:c.3436T>C LRG_1234p1:p.Leu1146= NC_000018.10:45916154:A:G ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +LRG_1234t1:c.438G>A LRG_1234p1:p.Ser146= NC_000018.10:45954963:C:T ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +NM_024334.3:c.231C>T NP_077310.1:p.Ile77= NC_000003.12:14130889:C:T p.(Ile77=) NC_000003.12:14130889:C:T p.(Ile77=) NC_000003.12:14130889:C:T Identity +NM_001160227.2:c.1131C>T NP_001153699.1:p.His377= NC_000015.10:44651815:G:A p.(His377=) NC_000015.10:44651815:G:A p.(His377=) NC_000015.10:44651815:G:A Identity +NM_001256850.1:c.71886T>C NP_001243779.1:p.Ser23962= NC_000002.12:178569322:A:G p.(Ser23962=) NC_000002.12:178569322:A:G p.(Ser23962=) NC_000002.12:178569322:A:G Identity +NM_001256850.1:c.61134A>G NP_001243779.1:p.Lys20378= NC_000002.12:178582398:T:C p.(Lys20378=) NC_000002.12:178582398:T:C p.(Lys20378=) NC_000002.12:178582398:T:C Identity +NM_001256850.1:c.29166A>G NP_001243779.1:p.Glu9722= NC_000002.12:178704252:T:C p.(Glu9722=) NC_000002.12:178704252:T:C p.(Glu9722=) NC_000002.12:178704252:T:C Identity +NM_001256850.1:c.38832C>T NP_001243779.1:p.Asp12944= NC_000002.12:178631292:G:A p.(Asp12944=) NC_000002.12:178631292:G:A p.(Asp12944=) NC_000002.12:178631292:G:A Identity +NM_030777.4:c.1401C>T NP_110404.1:p.Leu467= NC_000020.11:46726975:C:T p.(Leu467=) NC_000020.11:46726975:C:T p.(Leu467=) NC_000020.11:46726975:C:T Identity +NM_000548.5:c.3819C>A NP_000539.2:p.Ala1273= NC_000016.10:2082439:C:A p.(Ala1273=) NC_000016.10:2082439:C:A p.(Ala1273=) NC_000016.10:2082439:C:A Identity +NM_000548.5:c.4179T>G NP_000539.2:p.Thr1393= NC_000016.10:2084400:T:G p.(Thr1393=) NC_000016.10:2084400:T:G p.(Thr1393=) NC_000016.10:2084400:T:G Identity +NM_017947.4:c.309G>A NP_060417.4:p.Ala103= NC_000018.10:36199691:G:A p.(Ala103=) NC_000018.10:36199691:G:A p.(Ala103=) NC_000018.10:36199691:G:A Identity +NM_024513.4:c.1659C>T NP_078789.2:p.Leu553= NC_000003.12:45967674:G:A p.(Leu553=) NC_000003.12:45967674:G:A p.(Leu553=) NC_000003.12:45967674:G:A Identity +NM_000070.3:c.1410C>T NP_000061.1:p.Asp470= NC_000015.10:42401695:C:T p.(Asp470=) NC_000015.10:42401695:C:T p.(Asp470=) NC_000015.10:42401695:C:T Identity +NM_001276289.2:c.303C>T NP_001263218.1:p.Ser101= NC_000017.11:68522880:C:T p.(Ser101=) NC_000017.11:68522880:C:T p.(Ser101=) NC_000017.11:68522880:C:T Identity +NM_001130066.2:c.582G>A NP_001123538.1:p.Glu194= NC_000006.12:33435223:G:A p.(Glu194=) NC_000006.12:33435223:G:A p.(Glu194=) NC_000006.12:33435223:G:A Identity +NM_001256849.1:c.1986C>T NP_001243778.1:p.Asn662= NC_000019.10:50409214:C:T p.(Asn662=) NC_000019.10:50409214:C:T p.(Asn662=) NC_000019.10:50409214:C:T Identity +NM_020529.3:c.783A>C NP_065390.1:p.Pro261= NC_000014.9:35402516:T:G p.(Pro261=) NC_000014.9:35402516:T:G p.(Pro261=) NC_000014.9:35402516:T:G Identity +NM_001161529.2:c.972T>G NP_001155001.1:p.Ser324= NC_000024.10:1303947:T:G p.(Ser324=) NC_000023.11:1303947:T:G p.(Ser324=) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Identity +NM_014244.5:c.3078C>A NP_055059.2:p.Gly1026= NC_000005.10:179122653:G:T p.(Gly1026=) NC_000005.10:179122653:G:T p.(Gly1026=) NC_000005.10:179122653:G:T Identity +NM_000038.6:c.6795A>G NP_000029.2:p.Gln2265= NC_000005.10:112842388:A:G p.(Gln2265=) NC_000005.10:112842388:A:G p.(Gln2265=) NC_000005.10:112842388:A:G Identity +NM_000038.6:c.4854A>G NP_000029.2:p.Leu1618= NC_000005.10:112840447:A:G p.(Leu1618=) NC_000005.10:112840447:A:G p.(Leu1618=) NC_000005.10:112840447:A:G Identity +NM_002471.4:c.1677C>T NP_002462.2:p.Gly559= NC_000014.9:23398941:G:A p.(Gly559=) NC_000014.9:23398941:G:A p.(Gly559=) NC_000014.9:23398941:G:A Identity +NM_002471.4:c.2067C>T NP_002462.2:p.Pro689= NC_000014.9:23397063:G:A p.(Pro689=) NC_000014.9:23397063:G:A p.(Pro689=) NC_000014.9:23397063:G:A Identity +NM_001127396.3:c.738C>T NP_001120868.1:p.Phe246= NC_000019.10:7642285:C:T p.(Phe246=) NC_000019.10:7642285:C:T p.(Phe246=) NC_000019.10:7642285:C:T Identity +NM_004304.5:c.2265C>T NP_004295.2:p.His755= NC_000002.12:29239769:G:A p.(His755=) NC_000002.12:29239769:G:A p.(His755=) NC_000002.12:29239769:G:A Identity +NM_001130455.2:c.5956C>T NP_001123927.1:p.Leu1986= NC_000002.12:71681006:C:T p.(Leu1986=) NC_000002.12:71681006:C:T p.(Leu1986=) NC_000002.12:71681006:C:T Identity +NM_001077365.2:c.30G>A NP_001070833.1:p.Val10= NC_000009.12:131504247:G:A p.(Val10=) NC_000009.12:131504247:G:A p.(Val10=) NC_000009.12:131504247:G:A Identity +NM_058216.3:c.879T>C NP_478123.1:p.Asn293= NC_000017.11:58720786:T:C p.(Asn293=) NC_000017.11:58720786:T:C p.(Asn293=) NC_000017.11:58720786:T:C Identity +NM_000445.5:c.4656C>A NP_000436.2:p.Ala1552= NC_000008.11:143925353:G:T p.(Ala1552=) NC_000008.11:143925353:G:T p.(Ala1552=) NC_000008.11:143925353:G:T Identity +NM_000445.5:c.6165G>A NP_000436.2:p.Ala2055= NC_000008.11:143923844:C:T p.(Ala2055=) NC_000008.11:143923844:C:T p.(Ala2055=) NC_000008.11:143923844:C:T Identity +NM_000445.5:c.6810C>T NP_000436.2:p.Leu2270= NC_000008.11:143923199:G:A p.(Leu2270=) NC_000008.11:143923199:G:A p.(Leu2270=) NC_000008.11:143923199:G:A Identity +NM_000445.5:c.7839G>C NP_000436.2:p.Leu2613= NC_000008.11:143922062:C:G p.(Leu2613=) NC_000008.11:143922062:C:G p.(Leu2613=) NC_000008.11:143922062:C:G Identity +NM_001321309.2:c.4380G>A NP_001308238.1:p.Glu1460= NC_000003.12:123638123:C:T p.(Glu1460=) NC_000003.12:123638123:C:T p.(Glu1460=) NC_000003.12:123638123:C:T Identity +NM_005585.5:c.1359C>T NP_005576.3:p.Asp453= NC_000015.10:66781402:C:T p.(Asp453=) NC_000015.10:66781402:C:T p.(Asp453=) NC_000015.10:66781402:C:T Identity +NM_001127487.2:c.2310C>T NP_001120959.1:p.Tyr770= NC_000007.14:128842618:C:T p.(Tyr770=) NC_000007.14:128842618:C:T p.(Tyr770=) NC_000007.14:128842618:C:T Identity +NM_001130823.3:c.4140C>T NP_001124295.1:p.Thr1380= NC_000019.10:10137984:G:A p.(Thr1380=) NC_000019.10:10137984:G:A p.(Thr1380=) NC_000019.10:10137984:G:A Identity +NM_001145661.2:c.888C>T NP_001139133.1:p.Val296= NC_000003.12:128483988:G:A p.(Val296=) NC_000003.12:128483988:G:A p.(Val296=) NC_000003.12:128483988:G:A Identity +NM_002661.5:c.1050C>A NP_002652.2:p.Arg350= NC_000016.10:81893771:C:A p.(Arg350=) NC_000016.10:81893771:C:A p.(Arg350=) NC_000016.10:81893771:C:A Identity +NM_001271938.2:c.2649T>C NP_001258867.1:p.Asp883= NC_000019.10:42350296:T:C p.(Asp883=) NC_000019.10:42350296:T:C p.(Asp883=) NC_000019.10:42350296:T:C Identity +NM_001271938.2:c.4842C>T NP_001258867.1:p.Thr1614= NC_000019.10:42357414:C:T p.(Thr1614=) NC_000019.10:42357414:C:T p.(Thr1614=) NC_000019.10:42357414:C:T Identity +NM_006231.4:c.6507G>T NP_006222.2:p.Leu2169= NC_000012.12:132626140:C:A p.(Leu2169=) NC_000012.12:132626140:C:A p.(Leu2169=) NC_000012.12:132626140:C:A Identity +NM_006231.4:c.4419G>C NP_006222.2:p.Leu1473= NC_000012.12:132643431:C:G p.(Leu1473=) NC_000012.12:132643431:C:G p.(Leu1473=) NC_000012.12:132643431:C:G Identity +NM_001324281.3:c.1887T>C NP_001311210.1:p.Asp629= NC_000007.14:2924285:A:G p.(Asp629=) NC_000007.14:2924285:A:G p.(Asp629=) NC_000007.14:2924285:A:G Identity +NM_001003800.2:c.2145T>C NP_001003800.1:p.Tyr715= NC_000009.12:92717909:A:G p.(Tyr715=) NC_000009.12:92717909:A:G p.(Tyr715=) NC_000009.12:92717909:A:G Identity +NM_001346083.2:c.609C>T NP_001333012.1:p.Gly203= NC_000001.11:205059204:C:T p.(Gly203=) NC_000001.11:205059204:C:T p.(Gly203=) NC_000001.11:205059204:C:T Identity +NM_001723.7:c.4443G>A NP_001714.1:p.Gly1481= NC_000006.12:56619590:C:T p.(Gly1481=) NC_000006.12:56619590:C:T p.(Gly1481=) NC_000006.12:56619590:C:T Identity +NM_001144769.5:c.4551C>T NP_001138241.1:p.Ser1517= NC_000006.12:56627275:G:A p.(Ser1517=) NC_000006.12:56627275:G:A p.(Ser1517=) NC_000006.12:56627275:G:A Identity +NM_001042594.2:c.354A>G NP_001036059.1:p.Gln118= NC_000007.14:124853093:T:C p.(Gln118=) NC_000007.14:124853093:T:C p.(Gln118=) NC_000007.14:124853093:T:C Identity +NM_001042594.2:c.304C>T NP_001036059.1:p.Leu102= NC_000007.14:124858961:G:A p.(Leu102=) NC_000007.14:124858961:G:A p.(Leu102=) NC_000007.14:124858961:G:A Identity +NM_001042594.2:c.891T>C NP_001036059.1:p.Asn297= NC_000007.14:124841057:A:G p.(Asn297=) NC_000007.14:124841057:A:G p.(Asn297=) NC_000007.14:124841057:A:G Identity +NM_001905.4:c.312A>G NP_001896.2:p.Gly104= NC_000001.11:40984965:A:G p.(Gly104=) NC_000001.11:40984965:A:G p.(Gly104=) NC_000001.11:40984965:A:G Identity +NM_001143838.3:c.744G>C NP_001137310.1:p.Val248= NC_000017.11:6701098:C:G p.(Val248=) NC_000017.11:6701098:C:G p.(Val248=) NC_000017.11:6701098:C:G Identity +NM_001081640.2:c.9030A>T NP_001075109.1:p.Ser3010= NC_000008.11:47821684:T:A p.(Ser3010=) NC_000008.11:47821684:T:A p.(Ser3010=) NC_000008.11:47821684:T:A Identity +NM_001134771.2:c.1272C>T NP_001128243.1:p.Thr424= NC_000020.11:46043288:C:T p.(Thr424=) NC_000020.11:46043288:C:T p.(Thr424=) NC_000020.11:46043288:C:T Identity +NM_006939.4:c.2154T>C NP_008870.2:p.Ser718= NC_000014.9:50153076:A:G p.(Ser718=) NC_000014.9:50153076:A:G p.(Ser718=) NC_000014.9:50153076:A:G Identity +NM_000068.4:c.1908C>T NP_000059.3:p.Phe636= NC_000019.10:13308127:G:A p.(Phe636=) NC_000019.10:13308127:G:A p.(Phe636=) NC_000019.10:13308127:G:A Identity +NM_004369.4:c.1614G>A NP_004360.2:p.Thr538= NC_000002.12:237381197:C:T p.(Thr538=) NC_000002.12:237381197:C:T p.(Thr538=) NC_000002.12:237381197:C:T Identity +NM_001605.3:c.2154T>G NP_001596.2:p.Thr718= NC_000016.10:70258055:A:C p.(Thr718=) NC_000016.10:70258055:A:C p.(Thr718=) NC_000016.10:70258055:A:C Identity +NM_001195573.1:c.1998T>C NP_001182502.1:p.Thr666= NC_000014.9:95113133:A:G p.(Thr666=) NC_000014.9:95113133:A:G p.(Thr666=) NC_000014.9:95113133:A:G Identity +NM_000323.2:c.177C>A NP_000314.1:p.Ala59= NC_000010.11:43100561:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.795G>A NP_000314.1:p.Glu265= NC_000010.11:43105120:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.1371A>T NP_000314.1:p.Ser457= NC_000010.11:43111313:A:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000426.4:c.7425G>A NP_000417.3:p.Thr2475= NC_000006.12:129473337:G:A p.(Thr2475=) NC_000006.12:129473337:G:A p.(Thr2475=) NC_000006.12:129473337:G:A Identity +NM_002764.4:c.60T>C NP_002755.1:p.Ala20= NC_000023.11:107628687:T:C p.(Ala20=) NC_000023.11:107628687:T:C p.(Ala20=) NC_000023.11:107628687:T:C Identity +NM_001122633.3:c.3723C>T NP_001116105.2:p.Asn1241= NC_000002.12:210658654:C:T p.(Asn1241=) NC_000002.12:210658654:C:T p.(Asn1241=) NC_000002.12:210658654:C:T Identity +NM_000540.3:c.3666C>T NP_000531.2:p.Phe1222= NC_000019.10:38469413:C:T p.(Phe1222=) NC_000019.10:38469413:C:T p.(Phe1222=) NC_000019.10:38469413:C:T Identity +NM_001160302.2:c.1914G>A NP_001153774.1:p.Leu638= NC_000021.9:32666470:C:T p.(Leu638=) NC_000021.9:32666470:C:T p.(Leu638=) NC_000021.9:32666470:C:T Identity +NM_000059.4:c.9386_9387insCTGATTTGGACCACT NP_000050.3:p.Pro3129_Glu3130insTer NC_000013.11:32394818::CTGATTTGGACCACT p.(Glu3130Ter) NC_000013.11:32394817:C:CTGATTTGGACCACT p.(Glu3130Ter) NC_000013.11:32394818:CA:CTGATTTGGACCACT Analogous +NM_001256125.2:c.1293C>T NP_001243054.2:p.Cys431= NC_000001.11:203216939:G:A p.(Cys431=) NC_000001.11:203216939:G:A p.(Cys431=) NC_000001.11:203216939:G:A Identity +NM_001363743.2:c.63A>G NP_001350672.1:p.Thr21= NC_000008.11:18069836:T:C p.(Thr21=) NC_000008.11:18069836:T:C p.(Thr21=) NC_000008.11:18069836:T:C Identity +NM_000036.3:c.63T>C NP_000027.3:p.Ala21= NC_000001.11:114688712:A:G p.(Ala21=) NC_000001.11:114688712:A:G p.(Ala21=) NC_000001.11:114688712:A:G Identity +NM_005763.4:c.1293G>A NP_005754.2:p.Ala431= NC_000007.14:122101665:C:T p.(Ala431=) NC_000007.14:122101665:C:T p.(Ala431=) NC_000007.14:122101665:C:T Identity +NM_198834.3:c.999T>C NP_942131.1:p.Asp333= NC_000017.11:37274201:A:G p.(Asp333=) NC_000017.11:37274201:A:G p.(Asp333=) NC_000017.11:37274201:A:G Identity +NM_001002258.5:c.348T>C NP_001002258.1:p.Tyr116= NC_000002.12:175178368:A:G p.(Tyr116=) NC_000002.12:175178368:A:G p.(Tyr116=) NC_000002.12:175178368:A:G Identity +NM_001040113.2:c.2988C>G NP_001035202.1:p.Val996= NC_000016.10:15740080:G:C p.(Val996=) NC_000016.10:15740080:G:C p.(Val996=) NC_000016.10:15740080:G:C Identity +NM_004260.4:c.1131G>A NP_004251.4:p.Gln377= NC_000008.11:144515987:C:T p.(Gln377=) NC_000008.11:144515987:C:T p.(Gln377=) NC_000008.11:144515987:C:T Identity +NM_000243.3:c.1455G>A NP_000234.1:p.Glu485= NC_000016.10:3247147:C:T p.(Glu485=) NC_000016.10:3247147:C:T p.(Glu485=) NC_000016.10:3247147:C:T Identity +NM_001293306.2:c.1824A>G NP_001280235.2:p.Gln608= NC_000003.12:38750115:T:C p.(Gln608=) NC_000003.12:38750115:T:C p.(Gln608=) NC_000003.12:38750115:T:C Identity +NM_000548.5:c.3609A>G NP_000539.2:p.Thr1203= NC_000016.10:2080375:A:G p.(Thr1203=) NC_000016.10:2080375:A:G p.(Thr1203=) NC_000016.10:2080375:A:G Identity +LRG_870t1:c.282A>G LRG_870p1:p.Gln94= NC_000007.14:128830918:A:G ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_870t1 not found +NM_001005407.2:c.3519C>T NP_001005407.1:p.Gly1173= NC_000016.10:1209186:C:T p.(Gly1173=) NC_000016.10:1209186:C:T p.(Gly1173=) NC_000016.10:1209186:C:T Identity +NM_001943.5:c.2533del NP_001934.2:p.Lys844_Ile845insTer NC_000018.10:31545913:AAAAAA:AAAAA p.(Ile845Ter) NC_000018.10:31545913:AAAAAA:AAAAA p.(Ile845Ter) NC_000018.10:31545918:A: Analogous +NM_006231.4:c.4404G>A NP_006222.2:p.Leu1468= NC_000012.12:132643446:C:T p.(Leu1468=) NC_000012.12:132643446:C:T p.(Leu1468=) NC_000012.12:132643446:C:T Identity +NM_000044.6:c.195_199delinsTT NP_000035.2:p.Gln65_Gln67delinsHisTer NC_000023.11:67545340:GCAGC:TT p.(Gln65_Gln67delinsHisTer) NC_000023.11:67545340:GCAGC:TT p.(Gln65_Gln67delinsHisTer) NC_000023.11:67545340:GCAGC:TT Identity +NM_001080.3:c.104_127del NP_001071.1:p.Ser35_Gln43delinsTer NC_000006.12:24495099:CCGGGCCTGCGCCCGGCCCGGCCC: p.(Ser35Ter) NC_000006.12:24495099:CCGGGCCTGCGCCCGGCCCGGCCC: p.(Ser35Ter) NC_000006.12:24495099:CCGGGCCTGCGCCCGGCCCGGCCC: Analogous +LRG_1122t1:c.3642G>A LRG_1122p1:p.Gln1214= NC_000009.12:136507305:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_014467.3:c.1011A>G NP_055282.1:p.Gln337= NC_000023.11:100667322:A:G p.(Gln337=) NC_000023.11:100667322:A:G p.(Gln337=) NC_000023.11:100667322:A:G Identity +NM_020247.5:c.1014C>T NP_064632.2:p.Ala338= NC_000001.11:226982967:C:T p.(Ala338=) NC_000001.11:226982967:C:T p.(Ala338=) NC_000001.11:226982967:C:T Identity +NM_000484.4:c.807C>T NP_000475.1:p.Thr269= NC_000021.9:26021897:G:A p.(Thr269=) NC_000021.9:26021897:G:A p.(Thr269=) NC_000021.9:26021897:G:A Identity +NM_001318900.1:c.186T>C NP_001305829.1:p.Asp62= NC_000010.11:87074611:A:G p.(Asp62=) NC_000010.11:87074611:A:G p.(Asp62=) NC_000010.11:87074611:A:G Identity +NM_001378969.1:c.1794C>T NP_001365898.1:p.Asp598= NC_000001.11:111776250:G:A p.(Asp598=) NC_000001.11:111776250:G:A p.(Asp598=) NC_000001.11:111776250:G:A Identity +NM_001256545.2:c.1041C>A NP_001243474.1:p.Gly347= NC_000005.10:127410511:C:A p.(Gly347=) NC_000005.10:127410511:C:A p.(Gly347=) NC_000005.10:127410511:C:A Identity +NM_005619.5:c.858T>A NP_005610.1:p.Val286= NC_000019.10:45493334:A:T p.(Val286=) NC_000019.10:45493334:A:T p.(Val286=) NC_000019.10:45493334:A:T Identity +NM_000540.3:c.879C>T NP_000531.2:p.Thr293= NC_000019.10:38448432:C:T p.(Thr293=) NC_000019.10:38448432:C:T p.(Thr293=) NC_000019.10:38448432:C:T Identity +NM_001256182.2:c.2889C>T NP_001243111.1:p.Asp963= NC_000016.10:89283652:G:A p.(Asp963=) NC_000016.10:89283652:G:A p.(Asp963=) NC_000016.10:89283652:G:A Identity +NM_001012505.2:c.114C>T NP_001012523.1:p.Asn38= NC_000003.12:71198267:G:A p.(Asn38=) NC_000003.12:71198267:G:A p.(Asn38=) NC_000003.12:71198267:G:A Identity +NM_016219.5:c.120GCC[6] NP_057303.2:p.Pro45dup NC_000009.12:137087116:CCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCC p.(Pro45dup) NC_000009.12:137087118:G:GCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_006265.3:c.1503T>G NP_006256.1:p.Pro501= NC_000008.11:116850734:A:C p.(Pro501=) NC_000008.11:116850734:A:C p.(Pro501=) NC_000008.11:116850734:A:C Identity +NM_001372044.2:c.4569C>T NP_001358973.1:p.His1523= NC_000022.11:50722176:C:T p.(Ala1523=) NC_000022.11:50722215:C:T p.(Ala1523=) NC_000022.11:50722215:C:T Analogous +NM_000462.5:c.2331C>T NP_000453.2:p.Asp777= NC_000015.10:25354384:G:A p.(Asp777=) NC_000015.10:25354384:G:A p.(Asp777=) NC_000015.10:25354384:G:A Identity +NM_001256182.2:c.195C>T NP_001243111.1:p.Gly65= NC_000016.10:89305236:G:A p.(Gly65=) NC_000016.10:89305236:G:A p.(Gly65=) NC_000016.10:89305236:G:A Identity +NM_021120.4:c.1794C>T NP_066943.2:p.Asp598= NC_000023.11:70495427:C:T p.(Asp598=) NC_000023.11:70495427:C:T p.(Asp598=) NC_000023.11:70495427:C:T Identity +NM_031407.7:c.3912A>G NP_113584.3:p.Thr1304= NC_000023.11:53592457:T:C p.(Thr1304=) NC_000023.11:53592457:T:C p.(Thr1304=) NC_000023.11:53592457:T:C Identity +NM_001142805.2:c.981G>A NP_001136277.1:p.Leu327= NC_000023.11:153693330:G:A p.(Leu327=) NC_000023.11:153693330:G:A p.(Leu327=) NC_000023.11:153693330:G:A Identity +NM_001079846.1:c.3717C>T NP_001073315.1:p.Pro1239= NC_000016.10:3749631:G:A p.(Pro1239=) NC_000016.10:3749631:G:A p.(Pro1239=) NC_000016.10:3749631:G:A Identity +NM_001256182.2:c.1857C>T NP_001243111.1:p.Val619= NC_000016.10:89284684:G:A p.(Val619=) NC_000016.10:89284684:G:A p.(Val619=) NC_000016.10:89284684:G:A Identity +NM_006766.5:c.4767C>T NP_006757.2:p.Tyr1589= NC_000008.11:41933452:G:A p.(Tyr1589=) NC_000008.11:41933452:G:A p.(Tyr1589=) NC_000008.11:41933452:G:A Identity +NM_031407.7:c.5938C>T NP_113584.3:p.Leu1980= NC_000023.11:53575734:G:A p.(Leu1980=) NC_000023.11:53575734:G:A p.(Leu1980=) NC_000023.11:53575734:G:A Identity +NM_001272003.2:c.1410C>T NP_001258932.1:p.Ala470= NC_000009.12:135769980:C:T p.(Ala470=) NC_000009.12:135769980:C:T p.(Ala470=) NC_000009.12:135769980:C:T Identity +NM_001244808.3:c.738C>G NP_001231737.1:p.Gly246= NC_000003.12:71041458:G:C p.(Gly246=) NC_000003.12:71041458:G:C p.(Gly246=) NC_000003.12:71041458:G:C Identity +NM_001145527.2:c.2184C>T NP_001138999.1:p.Asp728= NC_000009.12:137778046:C:T p.(Asp728=) NC_000009.12:137778046:C:T p.(Asp728=) NC_000009.12:137778046:C:T Identity +NM_001141973.3:c.2206A>C NP_001135445.1:p.Arg736= NC_000001.11:16991763:T:G p.(Arg736=) NC_000001.11:16991763:T:G p.(Arg736=) NC_000001.11:16991763:T:G Identity +NM_001376.5:c.9495C>T NP_001367.2:p.Gly3165= NC_000014.9:102029564:C:T p.(Gly3165=) NC_000014.9:102029564:C:T p.(Gly3165=) NC_000014.9:102029564:C:T Identity +NM_001172766.3:c.918A>G NP_001166237.1:p.Ala306= NC_000007.14:114642554:A:G p.(Ala306=) NC_000007.14:114642554:A:G p.(Ala306=) NC_000007.14:114642554:A:G Identity +NM_001281463.1:c.1482C>T NP_001268392.1:p.Tyr494= NC_000023.11:53405953:G:A p.(Tyr494=) NC_000023.11:53405953:G:A p.(Tyr494=) NC_000023.11:53405953:G:A Identity +NM_000832.7:c.888C>T NP_000823.4:p.Leu296= NC_000009.12:137156956:C:T p.(Leu296=) NC_000009.12:137156956:C:T p.(Leu296=) NC_000009.12:137156956:C:T Identity +NM_000086.2:c.1002C>T NP_000077.1:p.Arg334= NC_000016.10:28482158:G:A p.(Arg334=) NC_000016.10:28482158:G:A p.(Arg334=) NC_000016.10:28482158:G:A Identity +NM_001191028.3:c.2475A>G NP_001177957.2:p.Thr825= NC_000007.14:128967323:T:C p.(Thr825=) NC_000007.14:128967323:T:C p.(Thr825=) NC_000007.14:128967323:T:C Identity +NM_006445.4:c.3045C>T NP_006436.3:p.Val1015= NC_000017.11:1675166:G:A p.(Val1015=) NC_000017.11:1675166:G:A p.(Val1015=) NC_000017.11:1675166:G:A Identity +NM_000318.3:c.447T>G NP_000309.2:p.Gly149= NC_000008.11:76983731:A:C p.(Gly149=) NC_000008.11:76983731:A:C p.(Gly149=) NC_000008.11:76983731:A:C Identity +NM_000023.4:c.111G>A NP_000014.1:p.Val37= NC_000017.11:50167440:G:A p.(Val37=) NC_000017.11:50167440:G:A p.(Val37=) NC_000017.11:50167440:G:A Identity +NM_001168370.2:c.714A>G NP_001161842.2:p.Gln238= NC_000006.12:43051725:T:C p.(Gln238=) NC_000006.12:43051725:T:C p.(Gln238=) NC_000006.12:43051725:T:C Identity +NM_001177428.1:c.2106C>T NP_001170899.1:p.Pro702= NC_000012.12:109786798:G:A p.(Pro702=) NC_000012.12:109786798:G:A p.(Pro702=) NC_000012.12:109786798:G:A Identity +NM_001282902.3:c.2961G>A NP_001269831.1:p.Arg987= NC_000008.11:115414919:C:T p.(Arg987=) NC_000008.11:115414919:C:T p.(Arg987=) NC_000008.11:115414919:C:T Identity +NM_001127396.3:c.1188C>T NP_001120868.1:p.Pro396= NC_000019.10:7644702:C:T p.(Pro396=) NC_000019.10:7644702:C:T p.(Pro396=) NC_000019.10:7644702:C:T Identity +NM_000316.3:c.1728T>C NP_000307.1:p.Ser576= NC_000003.12:46903601:T:C p.(Ser576=) NC_000003.12:46903601:T:C p.(Ser576=) NC_000003.12:46903601:T:C Identity +NM_001193503.2:c.660delinsATCC NP_001180432.1:p.Ser220dup NC_000017.11:4955527:G:ATCC p.(Ser220dup) NC_000017.11:4955527:G:ATCC p.(Ser220dup) NC_000017.11:4955527:G:ATCC Identity +NM_014014.5:c.4935G>A NP_054733.2:p.Val1645= NC_000002.12:96281902:C:T p.(Val1645=) NC_000002.12:96281902:C:T p.(Val1645=) NC_000002.12:96281902:C:T Identity +NM_001126131.2:c.33C>T NP_001119603.1:p.Gly11= NC_000015.10:89333721:G:A p.(Gly11=) NC_000015.10:89333721:G:A p.(Gly11=) NC_000015.10:89333721:G:A Identity +NM_000445.5:c.10404G>A NP_000436.2:p.Ser3468= NC_000008.11:143919497:C:T p.(Ser3468=) NC_000008.11:143919497:C:T p.(Ser3468=) NC_000008.11:143919497:C:T Identity +NM_004565.3:c.1101C>T NP_004556.1:p.Pro367= NC_000001.11:10629953:C:T p.(Pro367=) NC_000001.11:10629953:C:T p.(Pro367=) NC_000001.11:10629953:C:T Identity +NM_001844.5:c.4116C>T NP_001835.3:p.Asn1372= NC_000012.12:47974289:G:A p.(Asn1372=) NC_000012.12:47974289:G:A p.(Asn1372=) NC_000012.12:47974289:G:A Identity +NM_000287.4:c.219G>A NP_000278.3:p.Gln73= NC_000006.12:42978931:C:T p.(Gln73=) NC_000006.12:42978931:C:T p.(Gln73=) NC_000006.12:42978931:C:T Identity +NM_001256850.1:c.80352T>C NP_001243779.1:p.Thr26784= NC_000002.12:178560856:A:G p.(Thr26784=) NC_000002.12:178560856:A:G p.(Thr26784=) NC_000002.12:178560856:A:G Identity +NM_001321196.2:c.378G>A NP_001308125.1:p.Ala126= NC_000019.10:58511577:C:T p.(Ala126=) NC_000019.10:58511577:C:T p.(Ala126=) NC_000019.10:58511577:C:T Identity +NM_033071.5:c.6114C>T NP_149062.2:p.His2038= NC_000006.12:152413488:G:A p.(His2038=) NC_000006.12:152413488:G:A p.(His2038=) NC_000006.12:152413488:G:A Identity +NM_001130455.2:c.3690C>T NP_001123927.1:p.Tyr1230= NC_000002.12:71598729:C:T p.(Tyr1230=) NC_000002.12:71598729:C:T p.(Tyr1230=) NC_000002.12:71598729:C:T Identity +NM_001166415.2:c.1290G>A NP_001159887.1:p.Gly430= NC_000003.12:185192819:C:T p.(Gly430=) NC_000003.12:185192819:C:T p.(Gly430=) NC_000003.12:185192819:C:T Identity +NM_004565.3:c.543G>A NP_004556.1:p.Gln181= NC_000001.11:10624394:G:A p.(Gln181=) NC_000001.11:10624394:G:A p.(Gln181=) NC_000001.11:10624394:G:A Identity +NM_001324112.2:c.1036T>C NP_001311041.1:p.Leu346= NC_000008.11:64615046:A:G p.(Leu346=) NC_000008.11:64615046:A:G p.(Leu346=) NC_000008.11:64615046:A:G Identity +NM_198525.3:c.3753G>T NP_940927.2:p.Leu1251= NC_000015.10:89628697:C:A p.(Leu1251=) NC_000015.10:89628697:C:A p.(Leu1251=) NC_000015.10:89628697:C:A Identity +NM_000445.5:c.3456C>T NP_000436.2:p.Leu1152= NC_000008.11:143927877:G:A p.(Leu1152=) NC_000008.11:143927877:G:A p.(Leu1152=) NC_000008.11:143927877:G:A Identity +NM_000543.5:c.90C>A NP_000534.3:p.Leu30= NC_000011.10:6390687:C:A p.(Leu30=) NC_000011.10:6390687:C:A p.(Leu30=) NC_000011.10:6390687:C:A Identity +NM_000445.5:c.2574G>T NP_000436.2:p.Val858= NC_000008.11:143930262:C:A p.(Val858=) NC_000008.11:143930262:C:A p.(Val858=) NC_000008.11:143930262:C:A Identity +NM_000287.4:c.807A>G NP_000278.3:p.Gly269= NC_000006.12:42978343:T:C p.(Gly269=) NC_000006.12:42978343:T:C p.(Gly269=) NC_000006.12:42978343:T:C Identity +NM_000443.4:c.3258C>T NP_000434.1:p.Tyr1086= NC_000007.14:87408057:G:A p.(Tyr1086=) NC_000007.14:87408057:G:A p.(Tyr1086=) NC_000007.14:87408057:G:A Identity +NM_001007098.3:c.15G>T NP_001007099.1:p.Pro5= NC_000001.11:52927410:G:T p.(Pro5=) NC_000001.11:52927410:G:T p.(Pro5=) NC_000001.11:52927410:G:T Identity +NM_138694.4:c.7284C>T NP_619639.3:p.Asp2428= NC_000006.12:51883158:G:A p.(Asp2428=) NC_000006.12:51883158:G:A p.(Asp2428=) NC_000006.12:51883158:G:A Identity +NM_000287.4:c.1137G>A NP_000278.3:p.Arg379= NC_000006.12:42969980:C:T p.(Arg379=) NC_000006.12:42969980:C:T p.(Arg379=) NC_000006.12:42969980:C:T Identity +NM_033071.5:c.20343A>G NP_149062.2:p.Gln6781= NC_000006.12:152233936:T:C p.(Gln6781=) NC_000006.12:152233936:T:C p.(Gln6781=) NC_000006.12:152233936:T:C Identity +NM_001126131.2:c.3468C>T NP_001119603.1:p.Thr1156= NC_000015.10:89318554:G:A p.(Thr1156=) NC_000015.10:89318554:G:A p.(Thr1156=) NC_000015.10:89318554:G:A Identity +NM_001039885.3:c.1236C>T NP_001034974.1:p.His412= NC_000019.10:46756685:C:T p.(His412=) NC_000019.10:46756685:C:T p.(His412=) NC_000019.10:46756685:C:T Identity +NM_000445.5:c.6066G>A NP_000436.2:p.Ala2022= NC_000008.11:143923943:C:T p.(Ala2022=) NC_000008.11:143923943:C:T p.(Ala2022=) NC_000008.11:143923943:C:T Identity +NM_001324112.2:c.129C>T NP_001311041.1:p.Pro43= NC_000008.11:64624532:G:A p.(Pro43=) NC_000008.11:64624532:G:A p.(Pro43=) NC_000008.11:64624532:G:A Identity +NM_153240.5:c.2190T>C NP_694972.3:p.Asn730= NC_000003.12:132694946:A:G p.(Asn730=) NC_000003.12:132694946:A:G p.(Asn730=) NC_000003.12:132694946:A:G Identity +NM_000068.4:c.2493G>A NP_000059.3:p.Pro831= NC_000019.10:13299151:C:T p.(Pro831=) NC_000019.10:13299151:C:T p.(Pro831=) NC_000019.10:13299151:C:T Identity +NM_001142777.2:c.273C>T NP_001136249.1:p.Asp91= NC_000016.10:30986154:C:T p.(Asp91=) NC_000016.10:30986154:C:T p.(Asp91=) NC_000016.10:30986154:C:T Identity +NM_001256850.1:c.40644C>T NP_001243779.1:p.Tyr13548= NC_000002.12:178621150:G:A p.(Tyr13548=) NC_000002.12:178621150:G:A p.(Tyr13548=) NC_000002.12:178621150:G:A Identity +NM_000875.5:c.318C>T NP_000866.1:p.Ile106= NC_000015.10:98707784:C:T p.(Ile106=) NC_000015.10:98707784:C:T p.(Ile106=) NC_000015.10:98707784:C:T Identity +NM_001200001.2:c.1635A>G NP_001186930.1:p.Ala545= NC_000001.11:119965498:T:C p.(Ala545=) NC_000001.11:119965498:T:C p.(Ala545=) NC_000001.11:119965498:T:C Identity +NM_000463.3:c.159G>A NP_000454.1:p.Arg53= NC_000002.12:233760445:G:A p.(Arg53=) NC_000002.12:233760445:G:A p.(Arg53=) NC_000002.12:233760445:G:A Identity +NM_001177316.2:c.945C>T NP_001170787.2:p.Gly315= NC_000009.12:137234127:C:T p.(Gly315=) NC_000009.12:137234127:C:T p.(Gly315=) NC_000009.12:137234127:C:T Identity +NM_004565.3:c.516C>T NP_004556.1:p.Ser172= NC_000001.11:10624367:C:T p.(Ser172=) NC_000001.11:10624367:C:T p.(Ser172=) NC_000001.11:10624367:C:T Identity +NM_001135940.2:c.318T>A NP_001129412.1:p.Val106= NC_000005.10:137883436:T:A p.(Val106=) NC_000005.10:137883436:T:A p.(Val106=) NC_000005.10:137883436:T:A Identity +NM_001077365.2:c.1194C>A NP_001070833.1:p.Pro398= NC_000009.12:131515443:C:A p.(Pro398=) NC_000009.12:131515443:C:A p.(Pro398=) NC_000009.12:131515443:C:A Identity +NM_001376.5:c.8097A>G NP_001367.2:p.Thr2699= NC_000014.9:102017423:A:G p.(Thr2699=) NC_000014.9:102017423:A:G p.(Thr2699=) NC_000014.9:102017423:A:G Identity +NM_033071.5:c.22926T>C NP_149062.2:p.Arg7642= NC_000006.12:152201829:A:G p.(Arg7642=) NC_000006.12:152201829:A:G p.(Arg7642=) NC_000006.12:152201829:A:G Identity +NM_001375808.2:c.1122A>G NP_001362737.1:p.Ser374= NC_000018.10:2937737:T:C p.(Ser374=) NC_000018.10:2937737:T:C p.(Ser374=) NC_000018.10:2937737:T:C Identity +NM_001098623.2:c.14262G>A NP_001092093.2:p.Thr4754= NC_000001.11:228319013:G:A p.(Thr4754=) NC_000001.11:228319013:G:A p.(Thr4754=) NC_000001.11:228319013:G:A Identity +LRG_1137t1:c.5838C>T LRG_1137p1:p.Phe1946= NC_000016.10:88720495:G:A ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found +NM_001126131.2:c.3390C>T NP_001119603.1:p.Cys1130= NC_000015.10:89318632:G:A p.(Cys1130=) NC_000015.10:89318632:G:A p.(Cys1130=) NC_000015.10:89318632:G:A Identity +NM_000059.4:c.8469A>G NP_000050.3:p.Gln2823= NC_000013.11:32370538:A:G p.(Gln2823=) NC_000013.11:32370538:A:G p.(Gln2823=) NC_000013.11:32370538:A:G Identity +NM_000552.5:c.1515C>T NP_000543.3:p.Arg505= NC_000012.12:6062971:G:A p.(Arg505=) NC_000012.12:6062971:G:A p.(Arg505=) NC_000012.12:6062971:G:A Identity +NM_000265.7:c.108G>A NP_000256.4:p.Ser36= NC_000007.14:74777301:G:A p.(Ser36=) NC_000007.14:74777301:G:A p.(Ser36=) NC_000007.14:74777301:G:A Identity +NM_000222.3:c.1652_1672del NP_000213.1:p.Pro551_Lys558delinsGln NC_000004.12:54727419:CCATGTATGAAGTACAGTGGA: p.(Pro551_Lys558delinsGln) NC_000004.12:54727419:CCATGTATGAAGTACAGTGGA: p.(Pro551_Lys558delinsGln) NC_000004.12:54727419:CCATGTATGAAGTACAGTGGA: Identity +NM_000222.3:c.1653_1660delinsAA NP_000213.1:p.Met552_Glu554delinsLys NC_000004.12:54727420:CATGTATG:AA p.(Met552_Glu554delinsLys) NC_000004.12:54727420:CATGTATG:AA p.(Met552_Glu554delinsLys) NC_000004.12:54727420:CATGTATG:AA Identity +NM_000059.4:c.8661A>G NP_000050.3:p.Ser2887= NC_000013.11:32376697:A:G p.(Ser2887=) NC_000013.11:32376697:A:G p.(Ser2887=) NC_000013.11:32376697:A:G Identity +NM_001317184.2:c.2049A>G NP_001304113.1:p.Pro683= NC_000016.10:68828240:A:G p.(Pro683=) NC_000016.10:68828240:A:G p.(Pro683=) NC_000016.10:68828240:A:G Identity +NM_001024688.3:c.1377T>C NP_001019859.1:p.Ala459= NC_000008.11:89953465:A:G p.(Ala459=) NC_000008.11:89953465:A:G p.(Ala459=) NC_000008.11:89953465:A:G Identity +NM_000051.4:c.4350G>A NP_000042.3:p.Leu1450= NC_000011.10:108289714:G:A p.(Leu1450=) NC_000011.10:108289714:G:A p.(Leu1450=) NC_000011.10:108289714:G:A Identity +NM_000051.4:c.4053A>G NP_000042.3:p.Leu1351= NC_000011.10:108287658:A:G p.(Leu1351=) NC_000011.10:108287658:A:G p.(Leu1351=) NC_000011.10:108287658:A:G Identity +NM_001048171.2:c.780A>C NP_001041636.2:p.Thr260= NC_000001.11:45332234:T:G p.(Thr260=) NC_000001.11:45332234:T:G p.(Thr260=) NC_000001.11:45332234:T:G Identity +NM_032043.3:c.2712C>T NP_114432.2:p.Asp904= NC_000017.11:61686028:G:A p.(Asp904=) NC_000017.11:61686028:G:A p.(Asp904=) NC_000017.11:61686028:G:A Identity +NM_001040113.2:c.960C>G NP_001035202.1:p.Gly320= NC_000016.10:15771662:G:C p.(Gly320=) NC_000016.10:15771662:G:C p.(Gly320=) NC_000016.10:15771662:G:C Identity +NM_001048171.2:c.445C>T NP_001041636.2:p.Leu149= NC_000001.11:45332809:G:A p.(Leu149=) NC_000001.11:45332809:G:A p.(Leu149=) NC_000001.11:45332809:G:A Identity +NM_004656.4:c.2031C>T NP_004647.1:p.Thr677= NC_000003.12:52402626:G:A p.(Thr677=) NC_000003.12:52402626:G:A p.(Thr677=) NC_000003.12:52402626:G:A Identity +NM_000527.5:c.1104C>T NP_000518.1:p.Cys368= NC_000019.10:11111556:C:T p.(Cys368=) NC_000019.10:11111556:C:T p.(Cys368=) NC_000019.10:11111556:C:T Identity +NM_004656.4:c.2166C>A NP_004647.1:p.Arg722= NC_000003.12:52402311:G:T p.(Arg722=) NC_000003.12:52402311:G:T p.(Arg722=) NC_000003.12:52402311:G:T Identity +NM_004329.3:c.261A>G NP_004320.2:p.Glu87= NC_000010.11:86892156:A:G p.(Glu87=) NC_000010.11:86892156:A:G p.(Glu87=) NC_000010.11:86892156:A:G Identity +NM_000051.4:c.2214G>A NP_000042.3:p.Glu738= NC_000011.10:108256303:G:A p.(Glu738=) NC_000011.10:108256303:G:A p.(Glu738=) NC_000011.10:108256303:G:A Identity +NM_001127660.2:c.708G>A NP_001121132.1:p.Thr236= NC_000001.11:11998877:G:A p.(Thr236=) NC_000001.11:11998877:G:A p.(Thr236=) NC_000001.11:11998877:G:A Identity +NM_000050.4:c.570C>T NP_000041.2:p.Tyr190= NC_000009.12:130471487:C:T p.(Tyr190=) NC_000009.12:130471487:C:T p.(Tyr190=) NC_000009.12:130471487:C:T Identity +NM_000051.4:c.3703_3708del NP_000042.3:p.Pro1235_Phe1236del NC_000011.10:108282830:CTTTTCCTTTT:CTTTT p.(Pro1235_Phe1236del) NC_000011.10:108282830:CTTTTCCTTTT:CTTTT p.(Pro1235_Phe1236del) NC_000011.10:108282835:CCTTTT: Identity +NM_000304.4:c.468G>A NP_000295.1:p.Leu156= NC_000017.11:15230931:C:T p.(Leu156=) NC_000017.11:15230931:C:T p.(Leu156=) NC_000017.11:15230931:C:T Identity +NM_001145901.2:c.1353G>A NP_001139373.1:p.Thr451= NC_000019.10:38916036:C:T p.(Thr451=) NC_000019.10:38916036:C:T p.(Thr451=) NC_000019.10:38916036:C:T Identity +NM_005732.4:c.150A>G NP_005723.2:p.Lys50= NC_000005.10:132559303:A:G p.(Lys50=) NC_000005.10:132559303:A:G p.(Lys50=) NC_000005.10:132559303:A:G Identity +NM_004260.4:c.3618G>A NP_004251.4:p.Val1206= NC_000008.11:144511439:C:T p.(Val1206=) NC_000008.11:144511439:C:T p.(Val1206=) NC_000008.11:144511439:C:T Identity +NM_001350626.2:c.597_598delinsTT NP_001337555.1:p.Met199_Asp200delinsIleTyr NC_000007.14:2543794:CC:AA p.(Met199_Asp200delinsIleTyr) NC_000007.14:2543794:CC:AA p.(Met199_Asp200delinsIleTyr) NC_000007.14:2543794:CC:AA Identity +NM_001007468.3:c.907_954del NP_001007469.1:p.Ala303_Ala318del NC_000022.11:23825361:CGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCC:C p.(Ala303_Ala318del) NC_000022.11:23825361:CGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCC:C p.(Ala303_Ala318del) NC_000022.11:23825362:GCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCC: Identity +NM_001347827.2:c.79_81dup NP_001334756.1:p.Leu27dup NC_000004.12:54261122:ATTA:ATTATTA p.(Leu27dup) NC_000004.12:54261122:ATTA:ATTATTA p.(Leu27dup) ERR:SPDI Identity +NM_001031714.4:c.1485G>A NP_001026884.3:p.Pro495= NC_000014.9:104707751:G:A p.(Pro495=) NC_000014.9:104707751:G:A p.(Pro495=) NC_000014.9:104707751:G:A Identity +NM_001127487.2:c.2107_2119delinsT NP_001120959.1:p.Lys703_Gln707delinsTer NC_000007.14:128841552:AAGCTCTATGCCC:T p.(Lys703_Gln707delinsMet) NC_000007.14:128841552:AAGCTCTATGCCCA:AT p.(Lys703Ter) NC_000007.14:128841552:AAGCTCTATGCCC:T Different +NM_001128844.3:c.2553G>T NP_001122316.1:p.Gly851= NC_000019.10:11019637:G:T p.(Gly851=) NC_000019.10:11019637:G:T p.(Gly851=) NC_000019.10:11019637:G:T Identity +NM_001081640.2:c.9462A>G NP_001075109.1:p.Gln3154= NC_000008.11:47817544:T:C p.(Gln3154=) NC_000008.11:47817544:T:C p.(Gln3154=) NC_000008.11:47817544:T:C Identity +NM_000168.6:c.1992G>A NP_000159.3:p.Ser664= NC_000007.14:41972447:C:T p.(Ser664=) NC_000007.14:41972447:C:T p.(Ser664=) NC_000007.14:41972447:C:T Identity +NM_001193304.3:c.111C>T NP_001180233.1:p.Gly37= NC_000002.12:96265270:G:A p.(Gly37=) NC_000002.12:96265270:G:A p.(Gly37=) NC_000002.12:96265270:G:A Identity +NM_001363729.2:c.510G>C NP_001350658.1:p.Gly170= NC_000020.11:36930874:C:G p.(Gly170=) NC_000020.11:36930874:C:G p.(Gly170=) NC_000020.11:36930874:C:G Identity +NM_004260.4:c.1585GTC[3] NP_004251.4:p.Val530dup NC_000008.11:144514965:GACGAC:GACGACGAC p.(Val530dup) NC_000008.11:144514970:C:GACGACGAC ERR:Parse ERR:Parse Identity +NM_001294332.2:c.1518G>T NP_001281261.1:p.Arg506= NC_000005.10:251101:G:T p.(Arg506=) NC_000005.10:251101:G:T p.(Arg506=) NC_000005.10:251101:G:T Identity +NM_003413.4:c.135CGC[7] NP_003404.1:p.Ala54_Ala55del NC_000023.11:137566825:CGCCGCCGCCGCCGCCGCCGCCGCCGC:CGCCGCCGCCGCCGCCGCCGC p.(Ala54_Ala55del) NC_000023.11:137566825:C:CGCCGCCGCCGCCGCCGCCGC ERR:Parse ERR:Parse Identity +NM_001290307.3:c.129T>C NP_001277236.1:p.Asn43= NC_000005.10:138783199:T:C p.(Asn43=) NC_000005.10:138783199:T:C p.(Asn43=) NC_000005.10:138783199:T:C Identity +NM_001368062.3:c.918G>A NP_001354991.2:p.Pro306= NC_000012.12:80238950:G:A p.(Pro306=) NC_000012.12:80238950:G:A p.(Pro306=) NC_000012.12:80238950:G:A Identity +NM_032119.4:c.10293C>T NP_115495.3:p.Asn3431= NC_000005.10:90728799:C:T p.(Asn3431=) NC_000005.10:90728799:C:T p.(Asn3431=) NC_000005.10:90728799:C:T Identity +NM_001079866.2:c.810G>A NP_001073335.1:p.Leu270= NC_000002.12:218662599:G:A p.(Leu270=) NC_000002.12:218662599:G:A p.(Leu270=) NC_000002.12:218662599:G:A Identity +NM_024747.6:c.2238A>G NP_079023.2:p.Gln746= NC_000010.11:102067711:A:G p.(Gln746=) NC_000010.11:102067711:A:G p.(Gln746=) NC_000010.11:102067711:A:G Identity +NM_016239.4:c.6486G>A NP_057323.3:p.Pro2162= NC_000017.11:18146083:G:A p.(Pro2162=) NC_000017.11:18146083:G:A p.(Pro2162=) NC_000017.11:18146083:G:A Identity +NM_032229.3:c.1638C>T NP_115605.2:p.Cys546= NC_000013.11:85794870:G:A p.(Cys546=) NC_000013.11:85794870:G:A p.(Cys546=) NC_000013.11:85794870:G:A Identity +NM_001278649.3:c.385C>T NP_001265578.1:p.Leu129= NC_000020.11:62279325:C:T p.(Leu129=) NC_000020.11:62279325:C:T p.(Leu129=) NC_000020.11:62279325:C:T Identity +NM_153676.4:c.2004C>A NP_710142.1:p.Pro668= NC_000011.10:17509364:G:T p.(Pro668=) NC_000011.10:17509364:G:T p.(Pro668=) NC_000011.10:17509364:G:T Identity +NM_001363813.1:c.1569C>T NP_001350742.1:p.Ala523= NC_000017.11:65537466:G:A p.(Ala523=) NC_000017.11:65537466:G:A p.(Ala523=) NC_000017.11:65537466:G:A Identity +NM_000364.4:c.342G>A NP_000355.2:p.Ala114= NC_000001.11:201365259:C:T p.(Ala114=) NC_000001.11:201365259:C:T p.(Ala114=) NC_000001.11:201365259:C:T Identity +NM_001306090.2:c.2457G>A NP_001293019.1:p.Arg819= NC_000004.12:5804736:G:A p.(Arg819=) NC_000004.12:5804736:G:A p.(Arg819=) NC_000004.12:5804736:G:A Identity +NM_002291.3:c.1539C>T NP_002282.2:p.Asp513= NC_000007.14:107973014:G:A p.(Asp513=) NC_000007.14:107973014:G:A p.(Asp513=) NC_000007.14:107973014:G:A Identity +NM_001291285.3:c.14574G>A NP_001278214.1:p.Arg4858= NC_000004.12:125491392:G:A p.(Arg4858=) NC_000004.12:125491392:G:A p.(Arg4858=) NC_000004.12:125491392:G:A Identity +NM_001199107.2:c.1278G>A NP_001186036.1:p.Gly426= NC_000016.10:2499905:G:A p.(Gly426=) NC_000016.10:2499905:G:A p.(Gly426=) NC_000016.10:2499905:G:A Identity +NM_020778.5:c.2808C>T NP_065829.4:p.Cys936= NC_000015.10:84857545:C:T p.(Cys936=) NC_000015.10:84857545:C:T p.(Cys936=) NC_000015.10:84857545:C:T Identity +NM_003000.3:c.834T>C NP_002991.2:p.Ala278= NC_000001.11:17018889:A:G p.(Ala278=) NC_000001.11:17018889:A:G p.(Ala278=) NC_000001.11:17018889:A:G Identity +NM_001142805.2:c.1701G>A NP_001136277.1:p.Leu567= NC_000023.11:153694852:G:A p.(Leu567=) NC_000023.11:153694852:G:A p.(Leu567=) NC_000023.11:153694852:G:A Identity +NM_001172435.2:c.144C>T NP_001165906.1:p.Leu48= NC_000002.12:135058079:C:T p.(Leu48=) NC_000002.12:135058079:C:T p.(Leu48=) NC_000002.12:135058079:C:T Identity +NM_001145853.1:c.396C>T NP_001139325.1:p.Leu132= NC_000004.12:6289066:C:T p.(Leu132=) NC_000004.12:6289066:C:T p.(Leu132=) NC_000004.12:6289066:C:T Identity +NM_017617.5:c.6966A>G NP_060087.3:p.Gln2322= NC_000009.12:136496772:T:C p.(Gln2322=) NC_000009.12:136496772:T:C p.(Gln2322=) NC_000009.12:136496772:T:C Identity +NM_001005752.2:c.33C>T NP_001005752.1:p.Ser11= NC_000001.11:34784794:C:T p.(Ser11=) NC_000001.11:34784794:C:T p.(Ser11=) NC_000001.11:34784794:C:T Identity +NM_001972.4:c.702G>A NP_001963.1:p.Pro234= NC_000019.10:856061:G:A p.(Pro234=) NC_000019.10:856061:G:A p.(Pro234=) NC_000019.10:856061:G:A Identity +NM_005045.4:c.9237T>C NP_005036.2:p.Ala3079= NC_000007.14:103495854:A:G p.(Ala3079=) NC_000007.14:103495854:A:G p.(Ala3079=) NC_000007.14:103495854:A:G Identity +NM_000346.4:c.1320C>T NP_000337.1:p.Tyr440= NC_000017.11:72124176:C:T p.(Tyr440=) NC_000017.11:72124176:C:T p.(Tyr440=) NC_000017.11:72124176:C:T Identity +NM_000089.4:c.2382G>A NP_000080.2:p.Arg794= NC_000007.14:94421930:G:A p.(Arg794=) NC_000007.14:94421930:G:A p.(Arg794=) NC_000007.14:94421930:G:A Identity +NM_006059.4:c.3363G>A NP_006050.3:p.Val1121= NC_000009.12:131072780:G:A p.(Val1121=) NC_000009.12:131072780:G:A p.(Val1121=) NC_000009.12:131072780:G:A Identity +NM_001321136.2:c.885C>A NP_001308065.1:p.Ser295= NC_000015.10:77032934:C:A p.(Ser295=) NC_000015.10:77032934:C:A p.(Ser295=) NC_000015.10:77032934:C:A Identity +NM_001291088.2:c.6204C>T NP_001278017.1:p.Ser2068= NC_000019.10:37887466:G:A p.(Ser2068=) NC_000019.10:37887466:G:A p.(Ser2068=) NC_000019.10:37887466:G:A Identity +NM_001379226.1:c.2988C>T NP_001366155.1:p.Ile996= NC_000011.10:70486167:G:A p.(Ile996=) NC_000011.10:70486167:G:A p.(Ile996=) NC_000011.10:70486167:G:A Identity +NM_032229.3:c.423G>A NP_115605.2:p.Leu141= NC_000013.11:85796085:C:T p.(Leu141=) NC_000013.11:85796085:C:T p.(Leu141=) NC_000013.11:85796085:C:T Identity +NM_001256850.1:c.99405A>C NP_001243779.1:p.Pro33135= NC_000002.12:178532286:T:G p.(Pro33135=) NC_000002.12:178532286:T:G p.(Pro33135=) NC_000002.12:178532286:T:G Identity +NM_001077186.2:c.4653C>T NP_001070654.1:p.Ser1551= NC_000019.10:50286693:C:T p.(Ser1551=) NC_000019.10:50286693:C:T p.(Ser1551=) NC_000019.10:50286693:C:T Identity +NM_001190709.2:c.1809A>G NP_001177638.1:p.Arg603= NC_000001.11:103004461:T:C p.(Arg603=) NC_000001.11:103004461:T:C p.(Arg603=) NC_000001.11:103004461:T:C Identity +NM_000335.5:c.4174T>C NP_000326.2:p.Leu1392= NC_000003.12:38560214:A:G p.(Leu1392=) NC_000003.12:38560214:A:G p.(Leu1392=) NC_000003.12:38560214:A:G Identity +NM_080679.3:c.4500A>C NP_542410.2:p.Ala1500= NC_000006.12:33164893:T:G p.(Ala1500=) NC_000006.12:33164893:T:G p.(Ala1500=) NC_000006.12:33164893:T:G Identity +NM_022114.4:c.756G>A NP_071397.3:p.Thr252= NC_000001.11:3402869:G:A p.(Thr252=) NC_000001.11:3402869:G:A p.(Thr252=) NC_000001.11:3402869:G:A Identity +NM_017946.4:c.525G>T NP_060416.1:p.Val175= NC_000007.14:30014845:C:A p.(Val175=) NC_000007.14:30014845:C:A p.(Val175=) NC_000007.14:30014845:C:A Identity +NM_005477.3:c.2109C>T NP_005468.1:p.Phe703= NC_000015.10:73324122:G:A p.(Phe703=) NC_000015.10:73324122:G:A p.(Phe703=) NC_000015.10:73324122:G:A Identity +NM_001013703.4:c.1968C>T NP_001013725.2:p.Ile656= NC_000015.10:39976562:C:T p.(Ile656=) NC_000015.10:39976562:C:T p.(Ile656=) NC_000015.10:39976562:C:T Identity +NM_001272003.2:c.3153C>T NP_001258932.1:p.Gly1051= NC_000009.12:135786306:C:T p.(Gly1051=) NC_000009.12:135786306:C:T p.(Gly1051=) NC_000009.12:135786306:C:T Identity +NM_001114086.2:c.1101G>A NP_001107558.1:p.Pro367= NC_000006.12:45903219:C:T p.(Pro367=) NC_000006.12:45903219:C:T p.(Pro367=) NC_000006.12:45903219:C:T Identity +NM_000062.3:c.1342_1349dup NP_000053.2:p.Thr450_Glu451insAsnTer NC_000011.10:57614419:GAACTGAC:GAACTGACGAACTGAC p.(Glu451AsnfsTer2) NC_000011.10:57614419:GAACTGAC:GAACTGACGAACTGAC p.(Glu451AsnfsTer2) ERR:SPDI Analogous +NM_006361.6:c.165C>T NP_006352.2:p.Gly55= NC_000017.11:48728428:G:A p.(Gly55=) NC_000017.11:48728428:G:A p.(Gly55=) NC_000017.11:48728428:G:A Identity +NM_003640.5:c.273C>T NP_003631.2:p.Asp91= NC_000009.12:108929798:G:A p.(Asp91=) NC_000009.12:108929798:G:A p.(Asp91=) NC_000009.12:108929798:G:A Identity +NM_017780.4:c.7224A>G NP_060250.2:p.Glu2408= NC_000008.11:60856503:A:G p.(Glu2408=) NC_000008.11:60856503:A:G p.(Glu2408=) NC_000008.11:60856503:A:G Identity +NM_001031714.4:c.3501C>A NP_001026884.3:p.Gly1167= NC_000014.9:104714662:C:A p.(Gly1167=) NC_000014.9:104714662:C:A p.(Gly1167=) NC_000014.9:104714662:C:A Identity +NM_018117.12:c.1944G>A NP_060587.8:p.Glu648= NC_000010.11:120885908:G:A p.(Glu648=) NC_000010.11:120885908:G:A p.(Glu648=) NC_000010.11:120885908:G:A Identity +NM_001290307.3:c.2013G>T NP_001277236.1:p.Ala671= NC_000005.10:138930474:G:T p.(Ala671=) NC_000005.10:138930474:G:T p.(Ala671=) NC_000005.10:138930474:G:T Identity +NM_000795.4:c.852C>T NP_000786.1:p.Leu284= NC_000011.10:113412841:G:A p.(Leu284=) NC_000011.10:113412841:G:A p.(Leu284=) NC_000011.10:113412841:G:A Identity +NM_001136029.4:c.2703C>T NP_001129501.1:p.His901= NC_000022.11:31843740:C:T p.(His901=) NC_000022.11:31843740:C:T p.(His901=) NC_000022.11:31843740:C:T Identity +NM_024685.4:c.1041T>C NP_078961.3:p.Gly347= NC_000012.12:76346943:A:G p.(Gly347=) NC_000012.12:76346943:A:G p.(Gly347=) NC_000012.12:76346943:A:G Identity +NM_001142333.2:c.264C>T NP_001135805.1:p.Thr88= NC_000016.10:7518382:C:T p.(Thr88=) NC_000016.10:7518382:C:T p.(Thr88=) NC_000016.10:7518382:C:T Identity +NM_000214.3:c.2517C>T NP_000205.1:p.Ile839= NC_000020.11:10642542:G:A p.(Ile839=) NC_000020.11:10642542:G:A p.(Ile839=) NC_000020.11:10642542:G:A Identity +NM_001178129.2:c.2103C>T NP_001171600.1:p.Ser701= NC_000007.14:83367630:G:A p.(Ser701=) NC_000007.14:83367630:G:A p.(Ser701=) NC_000007.14:83367630:G:A Identity +NM_004483.5:c.33C>T NP_004474.2:p.Ala11= NC_000016.10:81096245:G:A p.(Ala11=) NC_000016.10:81096245:G:A p.(Ala11=) NC_000016.10:81096245:G:A Identity +NM_014141.6:c.3909G>A NP_054860.1:p.Ser1303= NC_000007.14:148415528:G:A p.(Ser1303=) NC_000007.14:148415528:G:A p.(Ser1303=) NC_000007.14:148415528:G:A Identity +NM_004260.4:c.1596C>T NP_004251.4:p.Pro532= NC_000008.11:144514959:G:A p.(Pro532=) NC_000008.11:144514959:G:A p.(Pro532=) NC_000008.11:144514959:G:A Identity +NM_001386339.1:c.1623G>A NP_001373268.1:p.Thr541= NC_000011.10:9963859:C:T p.(Thr541=) NC_000011.10:9963859:C:T p.(Thr541=) NC_000011.10:9963859:C:T Identity +NM_001276468.2:c.435A>G NP_001263397.1:p.Gly145= NC_000012.12:57630263:T:C p.(Gly145=) NC_000012.12:57630263:T:C p.(Gly145=) NC_000012.12:57630263:T:C Identity +NM_001376.5:c.318C>T NP_001367.2:p.Asp106= NC_000014.9:101975772:C:T p.(Asp106=) NC_000014.9:101975772:C:T p.(Asp106=) NC_000014.9:101975772:C:T Identity +NM_001184.4:c.1608A>G NP_001175.2:p.Ser536= NC_000003.12:142559374:T:C p.(Ser536=) NC_000003.12:142559374:T:C p.(Ser536=) NC_000003.12:142559374:T:C Identity +NM_183075.3:c.372C>T NP_898898.1:p.His124= NC_000004.12:107932014:C:T p.(His124=) NC_000004.12:107932014:C:T p.(His124=) NC_000004.12:107932014:C:T Identity +NM_001172631.3:c.3282G>A NP_001166102.1:p.Lys1094= NC_000014.9:102449834:G:A p.(Lys1094=) NC_000014.9:102449834:G:A p.(Lys1094=) NC_000014.9:102449834:G:A Identity +NM_001278055.2:c.12831C>T NP_001264984.1:p.Ala4277= NC_000013.11:23330603:G:A p.(Ala4277=) NC_000013.11:23330603:G:A p.(Ala4277=) NC_000013.11:23330603:G:A Identity +NM_000057.4:c.249G>A NP_000048.1:p.Gln83= NC_000015.10:90749516:G:A p.(Gln83=) NC_000015.10:90749516:G:A p.(Gln83=) NC_000015.10:90749516:G:A Identity +NM_001081.4:c.4671T>G NP_001072.2:p.Leu1557= NC_000010.11:16982507:A:C p.(Leu1557=) NC_000010.11:16982507:A:C p.(Leu1557=) NC_000010.11:16982507:A:C Identity +NM_000222.3:c.2886C>T NP_000213.1:p.Ser962= NC_000004.12:54738511:C:T p.(Ser962=) NC_000004.12:54738511:C:T p.(Ser962=) NC_000004.12:54738511:C:T Identity +NM_001148.6:c.8595A>C NP_001139.3:p.Ile2865= NC_000004.12:113357212:A:C p.(Ile2865=) NC_000004.12:113357212:A:C p.(Ile2865=) NC_000004.12:113357212:A:C Identity +NM_017617.5:c.2541C>T NP_060087.3:p.Ser847= NC_000009.12:136511197:G:A p.(Ser847=) NC_000009.12:136511197:G:A p.(Ser847=) NC_000009.12:136511197:G:A Identity +NM_001365999.1:c.1458T>C NP_001352928.1:p.Arg486= NC_000001.11:43420944:T:C p.(Arg486=) NC_000001.11:43420944:T:C p.(Arg486=) NC_000001.11:43420944:T:C Identity +NM_001099274.3:c.315G>A NP_001092744.1:p.Arg105= NC_000014.9:24241758:C:T p.(Arg105=) NC_000014.9:24241758:C:T p.(Arg105=) NC_000014.9:24241758:C:T Identity +NM_001204.7:c.1104G>A NP_001195.2:p.Glu368= NC_000002.12:202530929:G:A p.(Glu368=) NC_000002.12:202530929:G:A p.(Glu368=) NC_000002.12:202530929:G:A Identity +NM_004629.2:c.1086C>T NP_004620.1:p.Asp362= NC_000009.12:35076018:G:A p.(Asp362=) NC_000009.12:35076018:G:A p.(Asp362=) NC_000009.12:35076018:G:A Identity +NM_001376.5:c.6030G>A NP_001367.2:p.Pro2010= NC_000014.9:102009894:G:A p.(Pro2010=) NC_000014.9:102009894:G:A p.(Pro2010=) NC_000014.9:102009894:G:A Identity +NM_001365999.1:c.7479G>A NP_001352928.1:p.Ala2493= NC_000001.11:43441347:G:A p.(Ala2493=) NC_000001.11:43441347:G:A p.(Ala2493=) NC_000001.11:43441347:G:A Identity +NM_001199107.2:c.969G>A NP_001186036.1:p.Val323= NC_000016.10:2497712:G:A p.(Val323=) NC_000016.10:2497712:G:A p.(Val323=) NC_000016.10:2497712:G:A Identity +NM_000501.4:c.1932C>T NP_000492.2:p.Ala644= NC_000007.14:74063633:C:T p.(Ala644=) NC_000007.14:74063633:C:T p.(Ala644=) NC_000007.14:74063633:C:T Identity +NM_001098512.3:c.525T>C NP_001091982.1:p.Cys175= NC_000010.11:51467813:T:C p.(Cys175=) NC_000010.11:51467813:T:C p.(Cys175=) NC_000010.11:51467813:T:C Identity +NM_024589.3:c.747C>T NP_078865.1:p.Cys249= NC_000016.10:4797788:G:A p.(Cys249=) NC_000016.10:4797788:G:A p.(Cys249=) NC_000016.10:4797788:G:A Identity +NM_001282424.3:c.2184T>C NP_001269353.2:p.Thr728= NC_000012.12:8863947:T:C p.(Thr728=) NC_000012.12:8863947:T:C p.(Thr728=) NC_000012.12:8863947:T:C Identity +NM_015488.5:c.1047G>A NP_056303.3:p.Ala349= NC_000002.12:218344869:G:A p.(Ala349=) NC_000002.12:218344869:G:A p.(Ala349=) NC_000002.12:218344869:G:A Identity +NM_001005360.3:c.1368A>G NP_001005360.1:p.Thr456= NC_000019.10:10798517:A:G p.(Thr456=) NC_000019.10:10798517:A:G p.(Thr456=) NC_000019.10:10798517:A:G Identity +NM_004260.4:c.2760C>T NP_004251.4:p.Ile920= NC_000008.11:144512766:G:A p.(Ile920=) NC_000008.11:144512766:G:A p.(Ile920=) NC_000008.11:144512766:G:A Identity +NM_001362836.2:c.2331A>T NP_001349765.1:p.Ile777= NC_000008.11:105802571:A:T p.(Ile777=) NC_000008.11:105802571:A:T p.(Ile777=) NC_000008.11:105802571:A:T Identity +NM_001099274.3:c.1003C>T NP_001092744.1:p.Leu335= NC_000014.9:24240476:G:A p.(Leu335=) NC_000014.9:24240476:G:A p.(Leu335=) NC_000014.9:24240476:G:A Identity +NM_001253852.3:c.267G>A NP_001240781.1:p.Thr89= NC_000001.11:113902708:C:T p.(Thr89=) NC_000001.11:113902708:C:T p.(Thr89=) NC_000001.11:113902708:C:T Identity +NM_001040108.2:c.3759A>G NP_001035197.1:p.Lys1253= NC_000014.9:75032135:T:C p.(Lys1253=) NC_000014.9:75032135:T:C p.(Lys1253=) NC_000014.9:75032135:T:C Identity +NM_002156.5:c.384C>T NP_002147.2:p.Phe128= NC_000002.12:197497182:G:A p.(Phe128=) NC_000002.12:197497182:G:A p.(Phe128=) NC_000002.12:197497182:G:A Identity +NM_001014431.2:c.810G>A NP_001014431.1:p.Val270= NC_000014.9:104773472:C:T p.(Val270=) NC_000014.9:104773472:C:T p.(Val270=) NC_000014.9:104773472:C:T Identity +NM_001321281.2:c.2190C>G NP_001308210.1:p.Pro730= NC_000019.10:49196763:C:G p.(Pro730=) NC_000019.10:49196763:C:G p.(Pro730=) NC_000019.10:49196763:C:G Identity +NM_001256850.1:c.91950T>C NP_001243779.1:p.Thr30650= NC_000002.12:178543099:A:G p.(Thr30650=) NC_000002.12:178543099:A:G p.(Thr30650=) NC_000002.12:178543099:A:G Identity +NM_005413.4:c.96C>T NP_005404.1:p.Ser32= NC_000002.12:44942199:C:T p.(Ser32=) NC_000002.12:44942199:C:T p.(Ser32=) NC_000002.12:44942199:C:T Identity +NM_024685.4:c.1776A>G NP_078961.3:p.Ser592= NC_000012.12:76346208:T:C p.(Ser592=) NC_000012.12:76346208:T:C p.(Ser592=) NC_000012.12:76346208:T:C Identity +NM_003334.4:c.873C>T NP_003325.2:p.Ile291= NC_000023.11:47202216:C:T p.(Ile291=) NC_000023.11:47202216:C:T p.(Ile291=) NC_000023.11:47202216:C:T Identity +NM_000165.5:c.825C>T NP_000156.1:p.Thr275= NC_000006.12:121447671:C:T p.(Thr275=) NC_000006.12:121447671:C:T p.(Thr275=) NC_000006.12:121447671:C:T Identity +NM_000377.3:c.390C>T NP_000368.1:p.Asp130= NC_000023.11:48685762:C:T p.(Asp130=) NC_000023.11:48685762:C:T p.(Asp130=) NC_000023.11:48685762:C:T Identity +NM_001177428.1:c.1170G>C NP_001170899.1:p.Leu390= NC_000012.12:109796545:C:G p.(Leu390=) NC_000012.12:109796545:C:G p.(Leu390=) NC_000012.12:109796545:C:G Identity +NM_001146702.2:c.3094C>T NP_001140174.1:p.Leu1032= NC_000023.11:53195235:G:A p.(Leu1032=) NC_000023.11:53195235:G:A p.(Leu1032=) NC_000023.11:53195235:G:A Identity +NM_001001890.3:c.255G>T NP_001001890.1:p.Leu85= NC_000021.9:34886857:C:A p.(Leu85=) NC_000021.9:34886857:C:A p.(Leu85=) NC_000021.9:34886857:C:A Identity +NM_001306153.1:c.1098T>C NP_001293082.1:p.Ile366= NC_000005.10:10261726:T:C p.(Ile366=) NC_000005.10:10261726:T:C p.(Ile366=) NC_000005.10:10261726:T:C Identity +NM_001001890.3:c.898C>T NP_001001890.1:p.Leu300= NC_000021.9:34792598:G:A p.(Leu300=) NC_000021.9:34792598:G:A p.(Leu300=) NC_000021.9:34792598:G:A Identity +NM_015346.4:c.771G>A NP_056161.2:p.Glu257= NC_000014.9:67807512:C:T p.(Glu257=) NC_000014.9:67807512:C:T p.(Glu257=) NC_000014.9:67807512:C:T Identity +NM_001363823.2:c.1395A>G NP_001350752.1:p.Leu465= NC_000002.12:32136952:A:G p.(Leu465=) NC_000002.12:32136952:A:G p.(Leu465=) NC_000002.12:32136952:A:G Identity +NM_004304.5:c.2505G>C NP_004295.2:p.Pro835= NC_000002.12:29232430:C:G p.(Pro835=) NC_000002.12:29232430:C:G p.(Pro835=) NC_000002.12:29232430:C:G Identity +NM_000143.4:c.1470C>T NP_000134.2:p.Gly490= NC_000001.11:241497890:G:A p.(Gly490=) NC_000001.11:241497890:G:A p.(Gly490=) NC_000001.11:241497890:G:A Identity +NM_001184.4:c.4575C>T NP_001175.2:p.Thr1525= NC_000003.12:142513566:G:A p.(Thr1525=) NC_000003.12:142513566:G:A p.(Thr1525=) NC_000003.12:142513566:G:A Identity +NM_000295.5:c.873C>T NP_000286.3:p.Leu291= NC_000014.9:94380914:G:A p.(Leu291=) NC_000014.9:94380914:G:A p.(Leu291=) NC_000014.9:94380914:G:A Identity +NM_001005373.4:c.546C>T NP_001005373.1:p.Ala182= NC_000009.12:127467756:C:T p.(Ala182=) NC_000009.12:127467756:C:T p.(Ala182=) NC_000009.12:127467756:C:T Identity +NM_001040142.2:c.1479G>A NP_001035232.1:p.Leu493= NC_000002.12:165315565:G:A p.(Leu493=) NC_000002.12:165315565:G:A p.(Leu493=) NC_000002.12:165315565:G:A Identity +NM_000360.4:c.372G>A NP_000351.2:p.Gly124= NC_000011.10:2168605:C:T p.(Gly124=) NC_000011.10:2168605:C:T p.(Gly124=) NC_000011.10:2168605:C:T Identity +NM_000489.6:c.2697G>A NP_000480.3:p.Thr899= NC_000023.11:77682558:C:T p.(Thr899=) NC_000023.11:77682558:C:T p.(Thr899=) NC_000023.11:77682558:C:T Identity +NM_001540.5:c.498G>A NP_001531.1:p.Glu166= NC_000007.14:76304052:G:A p.(Glu166=) NC_000007.14:76304052:G:A p.(Glu166=) NC_000007.14:76304052:G:A Identity +NM_001023570.4:c.1335A>T NP_001018864.2:p.Arg445= NC_000003.12:121781817:T:A p.(Arg445=) NC_000003.12:121781817:T:A p.(Arg445=) NC_000003.12:121781817:T:A Identity +NM_001927.4:c.598T>C NP_001918.3:p.Leu200= NC_000002.12:219420113:T:C p.(Leu200=) NC_000002.12:219420113:T:C p.(Leu200=) NC_000002.12:219420113:T:C Identity +NM_000419.5:c.1413C>T NP_000410.2:p.Tyr471= NC_000017.11:44380625:G:A p.(Tyr471=) NC_000017.11:44380625:G:A p.(Tyr471=) NC_000017.11:44380625:G:A Identity +NM_000346.4:c.1197G>C NP_000337.1:p.Thr399= NC_000017.11:72124053:G:C p.(Thr399=) NC_000017.11:72124053:G:C p.(Thr399=) NC_000017.11:72124053:G:C Identity +NM_000135.4:c.1413C>T NP_000126.2:p.Val471= NC_000016.10:89784910:G:A p.(Val471=) NC_000016.10:89784910:G:A p.(Val471=) NC_000016.10:89784910:G:A Identity +NM_001278055.2:c.870G>A NP_001264984.1:p.Thr290= NC_000013.11:23355300:C:T p.(Thr290=) NC_000013.11:23355300:C:T p.(Thr290=) NC_000013.11:23355300:C:T Identity +NM_001126131.2:c.184C>T NP_001119603.1:p.Leu62= NC_000015.10:89333570:G:A p.(Leu62=) NC_000015.10:89333570:G:A p.(Leu62=) NC_000015.10:89333570:G:A Identity +NM_001232.4:c.474C>T NP_001223.2:p.Phe158= NC_000001.11:115738281:G:A p.(Phe158=) NC_000001.11:115738281:G:A p.(Phe158=) NC_000001.11:115738281:G:A Identity +NM_001178133.2:c.579G>A NP_001171604.1:p.Gly193= NC_000010.11:102592705:G:A p.(Gly193=) NC_000010.11:102592705:G:A p.(Gly193=) NC_000010.11:102592705:G:A Identity +NM_004501.3:c.282A>G NP_004492.2:p.Glu94= NC_000001.11:244864025:T:C p.(Glu94=) NC_000001.11:244864025:T:C p.(Glu94=) NC_000001.11:244864025:T:C Identity +NM_001174063.2:c.69G>A NP_001167534.1:p.Pro23= NC_000008.11:38457377:C:T p.(Pro23=) NC_000008.11:38457377:C:T p.(Pro23=) NC_000008.11:38457377:C:T Identity +NM_004260.4:c.2832T>C NP_004251.4:p.His944= NC_000008.11:144512694:A:G p.(His944=) NC_000008.11:144512694:A:G p.(His944=) NC_000008.11:144512694:A:G Identity +NM_181882.3:c.4377G>A NP_870998.2:p.Ala1459= NC_000019.10:40393974:C:T p.(Ala1459=) NC_000019.10:40393974:C:T p.(Ala1459=) NC_000019.10:40393974:C:T Identity +NM_001365684.2:c.300A>G NP_001352613.2:p.Gln100= NC_000005.10:177204228:A:G p.(Gln100=) NC_000005.10:177204228:A:G p.(Gln100=) NC_000005.10:177204228:A:G Identity +NM_000135.4:c.1008A>G NP_000126.2:p.Ala336= NC_000016.10:89792545:T:C p.(Ala336=) NC_000016.10:89792545:T:C p.(Ala336=) NC_000016.10:89792545:T:C Identity +NM_001317184.2:c.1614T>C NP_001304113.1:p.Thr538= NC_000016.10:68822085:T:C p.(Thr538=) NC_000016.10:68822085:T:C p.(Thr538=) NC_000016.10:68822085:T:C Identity +NM_001172631.3:c.516A>G NP_001166102.1:p.Pro172= NC_000014.9:102414670:A:G p.(Pro172=) NC_000014.9:102414670:A:G p.(Pro172=) NC_000014.9:102414670:A:G Identity +NM_001080463.2:c.4548G>A NP_001073932.1:p.Lys1516= NC_000011.10:103163083:G:A p.(Lys1516=) NC_000011.10:103163083:G:A p.(Lys1516=) NC_000011.10:103163083:G:A Identity +NM_000264.5:c.828C>T NP_000255.2:p.Asp276= NC_000009.12:95480506:G:A p.(Asp276=) NC_000009.12:95480506:G:A p.(Asp276=) NC_000009.12:95480506:G:A Identity +NM_017617.5:c.5373C>T NP_060087.3:p.Ser1791= NC_000009.12:136502282:G:A p.(Ser1791=) NC_000009.12:136502282:G:A p.(Ser1791=) NC_000009.12:136502282:G:A Identity +NM_198586.3:c.195C>A NP_940988.2:p.Ala65= NC_000006.12:18122411:G:T p.(Ala65=) NC_000006.12:18122411:G:T p.(Ala65=) NC_000006.12:18122411:G:T Identity +NM_001042572.3:c.180T>G NP_001036037.1:p.Ser60= NC_000015.10:92924437:T:G p.(Ser60=) NC_000015.10:92924437:T:G p.(Ser60=) NC_000015.10:92924437:T:G Identity +NM_021922.3:c.792C>T NP_068741.1:p.Asp264= NC_000006.12:35456289:C:T p.(Asp264=) NC_000006.12:35456289:C:T p.(Asp264=) NC_000006.12:35456289:C:T Identity +NM_000378.6:c.675C>T NP_000369.4:p.Val225= NC_000011.10:32428605:G:A p.(Val225=) NC_000011.10:32428605:G:A p.(Val225=) NC_000011.10:32428605:G:A Identity +NM_001172425.3:c.276G>C NP_001165896.1:p.Ser92= NC_000001.11:225939976:C:G p.(Ser92=) NC_000001.11:225939976:C:G p.(Ser92=) NC_000001.11:225939976:C:G Identity +NM_001040108.2:c.1794T>C NP_001035197.1:p.Tyr598= NC_000014.9:75047861:A:G p.(Tyr598=) NC_000014.9:75047861:A:G p.(Tyr598=) NC_000014.9:75047861:A:G Identity +NM_000323.2:c.118C>T NP_000314.1:p.Leu40= NC_000010.11:43100502:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001190992.2:c.1161G>A NP_001177921.1:p.Gly387= NC_000003.12:155833572:C:T p.(Gly387=) NC_000003.12:155833572:C:T p.(Gly387=) NC_000003.12:155833572:C:T Identity +NM_000310.4:c.657G>C NP_000301.1:p.Leu219= NC_000001.11:40078628:C:G p.(Leu219=) NC_000001.11:40078628:C:G p.(Leu219=) NC_000001.11:40078628:C:G Identity +NM_001144964.1:c.321C>T NP_001138436.1:p.Asp107= NC_000018.10:58328997:C:T p.(Asp107=) NC_000018.10:58328997:C:T p.(Asp107=) NC_000018.10:58328997:C:T Identity +NM_001365999.1:c.7272C>T NP_001352928.1:p.Pro2424= NC_000001.11:43440513:C:T p.(Pro2424=) NC_000001.11:43440513:C:T p.(Pro2424=) NC_000001.11:43440513:C:T Identity +NM_002156.5:c.819A>T NP_002147.2:p.Ile273= NC_000002.12:197493373:T:A p.(Ile273=) NC_000002.12:197493373:T:A p.(Ile273=) NC_000002.12:197493373:T:A Identity +NM_001378454.1:c.8109G>A NP_001365383.1:p.Pro2703= NC_000002.12:73490067:G:A p.(Pro2703=) NC_000002.12:73490067:G:A p.(Pro2703=) NC_000002.12:73490067:G:A Identity +NM_001346599.2:c.1636T>C NP_001333528.1:p.Leu546= NC_000007.14:105563930:T:C p.(Leu546=) NC_000007.14:105563930:T:C p.(Leu546=) NC_000007.14:105563930:T:C Identity +NM_001018037.2:c.1197T>C NP_001018047.1:p.Thr399= NC_000009.12:77225960:T:C p.(Thr399=) NC_000009.12:77225960:T:C p.(Thr399=) NC_000009.12:77225960:T:C Identity +NM_002049.4:c.942A>G NP_002040.1:p.Lys314= NC_000023.11:48793863:A:G p.(Lys314=) NC_000023.11:48793863:A:G p.(Lys314=) NC_000023.11:48793863:A:G Identity +NM_000360.4:c.126C>A NP_000351.2:p.Ile42= NC_000011.10:2169835:G:T p.(Ile42=) NC_000011.10:2169835:G:T p.(Ile42=) NC_000011.10:2169835:G:T Identity +NM_001159699.2:c.510T>C NP_001153171.1:p.His170= NC_000023.11:136207921:T:C p.(His170=) NC_000023.11:136207921:T:C p.(His170=) NC_000023.11:136207921:T:C Identity +NM_001278055.2:c.6723C>T NP_001264984.1:p.Thr2241= NC_000013.11:23336711:G:A p.(Thr2241=) NC_000013.11:23336711:G:A p.(Thr2241=) NC_000013.11:23336711:G:A Identity +NM_032444.4:c.1932C>T NP_115820.2:p.Asp644= NC_000016.10:3595685:G:A p.(Asp644=) NC_000016.10:3595685:G:A p.(Asp644=) NC_000016.10:3595685:G:A Identity +NM_000244.4:c.225C>T NP_000235.3:p.Leu75= NC_000011.10:64809884:G:A p.(Leu75=) NC_000011.10:64809884:G:A p.(Leu75=) NC_000011.10:64809884:G:A Identity +NM_001363813.1:c.2037A>C NP_001350742.1:p.Pro679= NC_000017.11:65535630:T:G p.(Pro679=) NC_000017.11:65535630:T:G p.(Pro679=) NC_000017.11:65535630:T:G Identity +NM_000143.4:c.1299C>T NP_000134.2:p.Asn433= NC_000001.11:241500527:G:A p.(Asn433=) NC_000001.11:241500527:G:A p.(Asn433=) NC_000001.11:241500527:G:A Identity +NM_001018037.2:c.1165T>C NP_001018047.1:p.Leu389= NC_000009.12:77225928:T:C p.(Leu389=) NC_000009.12:77225928:T:C p.(Leu389=) NC_000009.12:77225928:T:C Identity +NM_001256850.1:c.49155A>T NP_001243779.1:p.Ala16385= NC_000002.12:178605098:T:A p.(Ala16385=) NC_000002.12:178605098:T:A p.(Ala16385=) NC_000002.12:178605098:T:A Identity +NM_000724.4:c.1146C>T NP_000715.2:p.Phe382= NC_000010.11:18538187:C:T p.(Phe382=) NC_000010.11:18538187:C:T p.(Phe382=) NC_000010.11:18538187:C:T Identity +NM_001278055.2:c.4437C>T NP_001264984.1:p.Gly1479= NC_000013.11:23338997:G:A p.(Gly1479=) NC_000013.11:23338997:G:A p.(Gly1479=) NC_000013.11:23338997:G:A Identity +NM_004958.4:c.2073G>A NP_004949.1:p.Glu691= NC_000001.11:11237977:C:T p.(Glu691=) NC_000001.11:11237977:C:T p.(Glu691=) NC_000001.11:11237977:C:T Identity +NM_001127889.5:c.687G>A NP_001121361.1:p.Ala229= NC_000015.10:64965442:C:T p.(Ala229=) NC_000015.10:64965442:C:T p.(Ala229=) NC_000015.10:64965442:C:T Identity +NM_001352773.2:c.789C>T NP_001339702.1:p.Ala263= NC_000017.11:41767498:G:A p.(Ala263=) NC_000017.11:41767498:G:A p.(Ala263=) NC_000017.11:41767498:G:A Identity +NM_001377456.1:c.1806A>G NP_001364385.1:p.Glu602= NC_000016.10:56497070:T:C p.(Glu602=) NC_000016.10:56497070:T:C p.(Glu602=) NC_000016.10:56497070:T:C Identity +NM_024529.5:c.1194A>G NP_078805.3:p.Gln398= NC_000001.11:193233031:A:G p.(Gln398=) NC_000001.11:193233031:A:G p.(Gln398=) NC_000001.11:193233031:A:G Identity +NM_001178133.2:c.1188A>C NP_001171604.1:p.Thr396= NC_000010.11:102617319:A:C p.(Thr396=) NC_000010.11:102617319:A:C p.(Thr396=) NC_000010.11:102617319:A:C Identity +NM_014845.6:c.717A>G NP_055660.1:p.Lys239= NC_000006.12:109738394:A:G p.(Lys239=) NC_000006.12:109738394:A:G p.(Lys239=) NC_000006.12:109738394:A:G Identity +NM_001145102.2:c.417C>T NP_001138574.1:p.Val139= NC_000015.10:67181313:C:T p.(Val139=) NC_000015.10:67181313:C:T p.(Val139=) NC_000015.10:67181313:C:T Identity +NM_000218.3:c.1335C>T NP_000209.2:p.Cys445= NC_000011.10:2588795:C:T p.(Cys445=) NC_000011.10:2588795:C:T p.(Cys445=) NC_000011.10:2588795:C:T Identity +NM_001362836.2:c.2457C>T NP_001349765.1:p.His819= NC_000008.11:105802697:C:T p.(His819=) NC_000008.11:105802697:C:T p.(His819=) NC_000008.11:105802697:C:T Identity +NM_001144964.1:c.792G>A NP_001138436.1:p.Pro264= NC_000018.10:58341066:G:A p.(Pro264=) NC_000018.10:58341066:G:A p.(Pro264=) NC_000018.10:58341066:G:A Identity +NM_005120.3:c.5301C>G NP_005111.2:p.Pro1767= NC_000023.11:71136555:C:G p.(Pro1767=) NC_000023.11:71136555:C:G p.(Pro1767=) NC_000023.11:71136555:C:G Identity +NM_002890.3:c.258G>C NP_002881.1:p.Leu86= NC_000005.10:87268708:G:C p.(Leu86=) NC_000005.10:87268708:G:C p.(Leu86=) NC_000005.10:87268708:G:C Identity +NM_024685.4:c.429T>C NP_078961.3:p.Gly143= NC_000012.12:76347555:A:G p.(Gly143=) NC_000012.12:76347555:A:G p.(Gly143=) NC_000012.12:76347555:A:G Identity +NM_001160227.2:c.4284C>A NP_001153699.1:p.Pro1428= NC_000015.10:44596232:G:T p.(Pro1428=) NC_000015.10:44596232:G:T p.(Pro1428=) NC_000015.10:44596232:G:T Identity +NM_001385819.1:c.303A>G NP_001372748.1:p.Leu101= NC_000017.11:79106707:T:C p.(Leu101=) NC_000017.11:79106707:T:C p.(Leu101=) NC_000017.11:79106707:T:C Identity +NM_001203247.2:c.537T>G NP_001190176.1:p.Gly179= NC_000007.14:148828827:A:C p.(Gly179=) NC_000007.14:148828827:A:C p.(Gly179=) NC_000007.14:148828827:A:C Identity +NM_001363671.2:c.771C>T NP_001350600.1:p.Val257= NC_000007.14:100105261:C:T p.(Val257=) NC_000007.14:100105261:C:T p.(Val257=) NC_000007.14:100105261:C:T Identity +NM_000264.5:c.69C>T NP_000255.2:p.Ala23= NC_000009.12:95508292:G:A p.(Ala23=) NC_000009.12:95508292:G:A p.(Ala23=) NC_000009.12:95508292:G:A Identity +NM_001136472.2:c.411C>T NP_001129944.1:p.Cys137= NC_000016.10:11549711:G:A p.(Cys137=) NC_000016.10:11549711:G:A p.(Cys137=) NC_000016.10:11549711:G:A Identity +NM_001290307.3:c.228G>A NP_001277236.1:p.Gly76= NC_000005.10:138783298:G:A p.(Gly76=) NC_000005.10:138783298:G:A p.(Gly76=) NC_000005.10:138783298:G:A Identity +NM_015180.6:c.14941T>C NP_055995.4:p.Leu4981= NC_000014.9:64140037:T:C p.(Leu4981=) NC_000014.9:64140037:T:C p.(Leu4981=) NC_000014.9:64140037:T:C Identity +NM_006073.4:c.1614G>A NP_006064.2:p.Val538= NC_000006.12:123273346:C:T p.(Val538=) NC_000006.12:123273346:C:T p.(Val538=) NC_000006.12:123273346:C:T Identity +NM_001256820.2:c.123T>C NP_001243749.1:p.Ala41= NC_000001.11:155904736:A:G p.(Ala41=) NC_000001.11:155904736:A:G p.(Ala41=) NC_000001.11:155904736:A:G Identity +NM_000135.4:c.690C>T NP_000126.2:p.Val230= NC_000016.10:89805298:G:A p.(Val230=) NC_000016.10:89805298:G:A p.(Val230=) NC_000016.10:89805298:G:A Identity +NM_001160227.2:c.4308A>G NP_001153699.1:p.Gln1436= NC_000015.10:44596208:T:C p.(Gln1436=) NC_000015.10:44596208:T:C p.(Gln1436=) NC_000015.10:44596208:T:C Identity +NM_001099274.3:c.960A>C NP_001092744.1:p.Thr320= NC_000014.9:24240519:T:G p.(Thr320=) NC_000014.9:24240519:T:G p.(Thr320=) NC_000014.9:24240519:T:G Identity +NM_000153.4:c.1191A>G NP_000144.2:p.Pro397= NC_000014.9:87950718:T:C p.(Pro397=) NC_000014.9:87950718:T:C p.(Pro397=) NC_000014.9:87950718:T:C Identity +NM_015346.4:c.6195G>A NP_056161.2:p.Ala2065= NC_000014.9:67762376:C:T p.(Ala2065=) NC_000014.9:67762376:C:T p.(Ala2065=) NC_000014.9:67762376:C:T Identity +NM_001886.3:c.216C>T NP_001877.1:p.Gly72= NC_000022.11:26625537:C:T p.(Gly72=) NC_000022.11:26625537:C:T p.(Gly72=) NC_000022.11:26625537:C:T Identity +NM_003334.4:c.1173T>C NP_003325.2:p.Ala391= NC_000023.11:47202753:T:C p.(Ala391=) NC_000023.11:47202753:T:C p.(Ala391=) NC_000023.11:47202753:T:C Identity +NM_001007468.3:c.465C>T NP_001007469.1:p.Phe155= NC_000022.11:23801072:C:T p.(Phe155=) NC_000022.11:23801072:C:T p.(Phe155=) NC_000022.11:23801072:C:T Identity +NM_004958.4:c.3195T>C NP_004949.1:p.Gly1065= NC_000001.11:11213488:A:G p.(Gly1065=) NC_000001.11:11213488:A:G p.(Gly1065=) NC_000001.11:11213488:A:G Identity +NM_005188.4:c.126C>T NP_005179.2:p.His42= NC_000011.10:119206542:C:T p.(His42=) NC_000011.10:119206542:C:T p.(His42=) NC_000011.10:119206542:C:T Identity +NM_001376.5:c.6660G>A NP_001367.2:p.Leu2220= NC_000014.9:102011915:G:A p.(Leu2220=) NC_000014.9:102011915:G:A p.(Leu2220=) NC_000014.9:102011915:G:A Identity +NM_020919.4:c.2193A>G NP_065970.2:p.Thr731= NC_000002.12:201741831:T:C p.(Thr731=) NC_000002.12:201741831:T:C p.(Thr731=) NC_000002.12:201741831:T:C Identity +NM_138694.4:c.108G>A NP_619639.3:p.Thr36= NC_000006.12:52083199:C:T p.(Thr36=) NC_000006.12:52083199:C:T p.(Thr36=) NC_000006.12:52083199:C:T Identity +NM_004304.5:c.3096A>T NP_004295.2:p.Pro1032= NC_000002.12:29225536:T:A p.(Pro1032=) NC_000002.12:29225536:T:A p.(Pro1032=) NC_000002.12:29225536:T:A Identity +NM_000251.3:c.549G>A NP_000242.1:p.Gln183= NC_000002.12:47410275:G:A p.(Gln183=) NC_000002.12:47410275:G:A p.(Gln183=) NC_000002.12:47410275:G:A Identity +NM_000426.4:c.294G>A NP_000417.3:p.Pro98= NC_000006.12:129059793:G:A p.(Pro98=) NC_000006.12:129059793:G:A p.(Pro98=) NC_000006.12:129059793:G:A Identity +NM_001080463.2:c.3402T>C NP_001073932.1:p.Tyr1134= NC_000011.10:103154549:T:C p.(Tyr1134=) NC_000011.10:103154549:T:C p.(Tyr1134=) NC_000011.10:103154549:T:C Identity +NM_004629.2:c.729T>C NP_004620.1:p.Pro243= NC_000009.12:35077018:A:G p.(Pro243=) NC_000009.12:35077018:A:G p.(Pro243=) NC_000009.12:35077018:A:G Identity +NM_025216.3:c.660C>T NP_079492.2:p.Phe220= NC_000002.12:218890266:C:T p.(Phe220=) NC_000002.12:218890266:C:T p.(Phe220=) NC_000002.12:218890266:C:T Identity +NM_001127487.2:c.7920C>T NP_001120959.1:p.His2640= NC_000007.14:128858363:C:T p.(His2640=) NC_000007.14:128858363:C:T p.(His2640=) NC_000007.14:128858363:C:T Identity +NM_001371271.1:c.291C>T NP_001358200.1:p.Asp97= NC_000002.12:120951278:C:T p.(Asp97=) NC_000002.12:120951278:C:T p.(Asp97=) NC_000002.12:120951278:C:T Identity +NM_001178133.2:c.123C>T NP_001171604.1:p.Cys41= NC_000010.11:102504274:C:T p.(Cys41=) NC_000010.11:102504274:C:T p.(Cys41=) NC_000010.11:102504274:C:T Identity +NM_001099400.2:c.294T>C NP_001092870.1:p.Pro98= NC_000007.14:94628297:A:G p.(Pro98=) NC_000007.14:94628297:A:G p.(Pro98=) NC_000007.14:94628297:A:G Identity +NM_004501.3:c.1713G>A NP_004492.2:p.Arg571= NC_000001.11:244856598:C:T p.(Arg571=) NC_000001.11:244856598:C:T p.(Arg571=) NC_000001.11:244856598:C:T Identity +NM_022114.4:c.1680C>T NP_071397.3:p.Ser560= NC_000001.11:3411876:C:T p.(Ser560=) NC_000001.11:3411876:C:T p.(Ser560=) NC_000001.11:3411876:C:T Identity +NM_001363813.1:c.1371A>G NP_001350742.1:p.Val457= NC_000017.11:65537664:T:C p.(Val457=) NC_000017.11:65537664:T:C p.(Val457=) NC_000017.11:65537664:T:C Identity +NM_004260.4:c.2046G>A NP_004251.4:p.Arg682= NC_000008.11:144513939:C:T p.(Arg682=) NC_000008.11:144513939:C:T p.(Arg682=) NC_000008.11:144513939:C:T Identity +NM_001270449.2:c.219A>C NP_001257378.1:p.Ala73= NC_000012.12:109483917:A:C p.(Ala73=) NC_000012.12:109483917:A:C p.(Ala73=) NC_000012.12:109483917:A:C Identity +NM_001271938.2:c.8373C>T NP_001258867.1:p.Pro2791= NC_000019.10:42376609:C:T p.(Pro2791=) NC_000019.10:42376609:C:T p.(Pro2791=) NC_000019.10:42376609:C:T Identity +NM_207361.6:c.7068C>T NP_997244.4:p.Ala2356= NC_000013.11:38857885:C:T p.(Ala2356=) NC_000013.11:38857885:C:T p.(Ala2356=) NC_000013.11:38857885:C:T Identity +NM_001195573.1:c.3963C>T NP_001182502.1:p.Ser1321= NC_000014.9:95103432:G:A p.(Ser1321=) NC_000014.9:95103432:G:A p.(Ser1321=) NC_000014.9:95103432:G:A Identity +NM_000038.6:c.7837A>C NP_000029.2:p.Arg2613= NC_000005.10:112843430:A:C p.(Arg2613=) NC_000005.10:112843430:A:C p.(Arg2613=) NC_000005.10:112843430:A:C Identity +NM_000706.5:c.753G>C NP_000697.1:p.Thr251= NC_000012.12:63150083:C:G p.(Thr251=) NC_000012.12:63150083:C:G p.(Thr251=) NC_000012.12:63150083:C:G Identity +NM_000076.2:c.99C>T NP_000067.1:p.Leu33= NC_000011.10:2885390:G:A p.(Leu33=) NC_000011.10:2885390:G:A p.(Leu33=) NC_000011.10:2885390:G:A Identity +NM_001278055.2:c.5565A>G NP_001264984.1:p.Arg1855= NC_000013.11:23337869:T:C p.(Arg1855=) NC_000013.11:23337869:T:C p.(Arg1855=) NC_000013.11:23337869:T:C Identity +NM_198578.4:c.5931C>T NP_940980.4:p.His1977= NC_000012.12:40335139:C:T p.(His1977=) NC_000012.12:40335139:C:T p.(His1977=) NC_000012.12:40335139:C:T Identity +NM_002334.4:c.3459G>A NP_002325.2:p.Leu1153= NC_000011.10:46876542:C:T p.(Leu1153=) NC_000011.10:46876542:C:T p.(Leu1153=) NC_000011.10:46876542:C:T Identity +NM_001141973.3:c.573C>T NP_001135445.1:p.Asp191= NC_000001.11:17002342:G:A p.(Asp191=) NC_000001.11:17002342:G:A p.(Asp191=) NC_000001.11:17002342:G:A Identity +NM_004304.5:c.783A>T NP_004295.2:p.Arg261= NC_000002.12:29717581:T:A p.(Arg261=) NC_000002.12:29717581:T:A p.(Arg261=) NC_000002.12:29717581:T:A Identity +NM_001256864.2:c.198C>T NP_001243793.1:p.Ala66= NC_000001.11:65364638:C:T p.(Ala66=) NC_000001.11:65364638:C:T p.(Ala66=) NC_000001.11:65364638:C:T Identity +NM_001195573.1:c.18G>A NP_001182502.1:p.Leu6= NC_000014.9:95133440:C:T p.(Leu6=) NC_000014.9:95133440:C:T p.(Leu6=) NC_000014.9:95133440:C:T Identity +NM_000551.4:c.258C>T NP_000542.1:p.Pro86= NC_000003.12:10142104:C:T p.(Pro86=) NC_000003.12:10142104:C:T p.(Pro86=) NC_000003.12:10142104:C:T Identity +NM_001110792.2:c.1122C>G NP_001104262.1:p.Pro374= NC_000023.11:154030741:G:C p.(Pro374=) NC_000023.11:154030741:G:C p.(Pro374=) NC_000023.11:154030741:G:C Identity +NM_000484.4:c.2217C>T NP_000475.1:p.Asp739= NC_000021.9:25881765:G:A p.(Asp739=) NC_000021.9:25881765:G:A p.(Asp739=) NC_000021.9:25881765:G:A Identity +NM_001376.5:c.12072G>A NP_001367.2:p.Pro4024= NC_000014.9:102041703:G:A p.(Pro4024=) NC_000014.9:102041703:G:A p.(Pro4024=) NC_000014.9:102041703:G:A Identity +NM_001127487.2:c.7386C>T NP_001120959.1:p.Arg2462= NC_000007.14:128856844:C:T p.(Arg2462=) NC_000007.14:128856844:C:T p.(Arg2462=) NC_000007.14:128856844:C:T Identity +NM_000497.4:c.294G>A NP_000488.3:p.Glu98= NC_000008.11:142879132:C:T p.(Glu98=) NC_000008.11:142879132:C:T p.(Glu98=) NC_000008.11:142879132:C:T Identity +NM_002334.4:c.3429G>A NP_002325.2:p.Thr1143= NC_000011.10:46876572:C:T p.(Thr1143=) NC_000011.10:46876572:C:T p.(Thr1143=) NC_000011.10:46876572:C:T Identity +NM_001184985.2:c.5460T>C NP_001171914.1:p.Tyr1820= NC_000012.12:885483:T:C p.(Tyr1820=) NC_000012.12:885483:T:C p.(Tyr1820=) NC_000012.12:885483:T:C Identity +NM_001320632.2:c.567T>C NP_001307561.1:p.Asn189= NC_000002.12:127063970:A:G p.(Asn189=) NC_000002.12:127063970:A:G p.(Asn189=) NC_000002.12:127063970:A:G Identity +NM_001376.5:c.13920C>T NP_001367.2:p.Val4640= NC_000014.9:102050541:C:T p.(Val4640=) NC_000014.9:102050541:C:T p.(Val4640=) NC_000014.9:102050541:C:T Identity +NM_001001396.3:c.3219C>T NP_001001396.1:p.Ala1073= NC_000001.11:203727480:C:T p.(Ala1073=) NC_000001.11:203727480:C:T p.(Ala1073=) NC_000001.11:203727480:C:T Identity +NM_002136.4:c.639T>C NP_002127.1:p.Asn213= NC_000012.12:54282627:T:C p.(Asn213=) NC_000012.12:54282627:T:C p.(Asn213=) NC_000012.12:54282627:T:C Identity +NM_001141973.3:c.3072C>T NP_001135445.1:p.Phe1024= NC_000001.11:16986952:G:A p.(Phe1024=) NC_000001.11:16986952:G:A p.(Phe1024=) NC_000001.11:16986952:G:A Identity +NM_000251.3:c.171G>A NP_000242.1:p.Val57= NC_000002.12:47403361:G:A p.(Val57=) NC_000002.12:47403361:G:A p.(Val57=) NC_000002.12:47403361:G:A Identity +NM_001080463.2:c.519C>T NP_001073932.1:p.Ser173= NC_000011.10:103115192:C:T p.(Ser173=) NC_000011.10:103115192:C:T p.(Ser173=) NC_000011.10:103115192:C:T Identity +NM_172201.2:c.75T>C NP_751951.1:p.Asn25= NC_000021.9:34370552:T:C p.(Asn25=) NC_000021.9:34370552:T:C p.(Asn25=) NC_000021.9:34370552:T:C Identity +NM_000264.5:c.2982A>T NP_000255.2:p.Val994= NC_000009.12:95458198:T:A p.(Val994=) NC_000009.12:95458198:T:A p.(Val994=) NC_000009.12:95458198:T:A Identity +NM_001220482.2:c.810G>A NP_001207411.1:p.Pro270= NC_000015.10:37036903:C:T p.(Pro270=) NC_000015.10:37036903:C:T p.(Pro270=) NC_000015.10:37036903:C:T Identity +NM_001849.4:c.2496G>A NP_001840.3:p.Val832= NC_000021.9:46131987:G:A p.(Val832=) NC_000021.9:46131987:G:A p.(Val832=) NC_000021.9:46131987:G:A Identity +NM_000136.3:c.1170C>T NP_000127.2:p.Pro390= NC_000009.12:95111621:G:A p.(Pro390=) NC_000009.12:95111621:G:A p.(Pro390=) NC_000009.12:95111621:G:A Identity +NM_001378454.1:c.7500C>T NP_001365383.1:p.Leu2500= NC_000002.12:73454026:C:T p.(Leu2500=) NC_000002.12:73454026:C:T p.(Leu2500=) NC_000002.12:73454026:C:T Identity +NM_003482.4:c.8481C>T NP_003473.3:p.Thr2827= NC_000012.12:49038874:G:A p.(Thr2827=) NC_000012.12:49038874:G:A p.(Thr2827=) NC_000012.12:49038874:G:A Identity +NM_006767.4:c.1719C>T NP_006758.2:p.Ser573= NC_000022.11:20994660:C:T p.(Ser573=) NC_000022.11:20994660:C:T p.(Ser573=) NC_000022.11:20994660:C:T Identity +NM_001256864.2:c.513G>A NP_001243793.1:p.Lys171= NC_000001.11:65366165:G:A p.(Lys171=) NC_000001.11:65366165:G:A p.(Lys171=) NC_000001.11:65366165:G:A Identity +NM_001141973.3:c.3312G>A NP_001135445.1:p.Arg1104= NC_000001.11:16986540:C:T p.(Arg1104=) NC_000001.11:16986540:C:T p.(Arg1104=) NC_000001.11:16986540:C:T Identity +NM_000081.4:c.2826A>G NP_000072.2:p.Pro942= NC_000001.11:235806309:T:C p.(Pro942=) NC_000001.11:235806309:T:C p.(Pro942=) NC_000001.11:235806309:T:C Identity +NM_015627.3:c.141G>A NP_056442.2:p.Leu47= NC_000001.11:25553973:G:A p.(Leu47=) NC_000001.11:25553973:G:A p.(Leu47=) NC_000001.11:25553973:G:A Identity +NM_001347827.2:c.81A>G NP_001334756.1:p.Leu27= NC_000004.12:54261125:A:G p.(Leu27=) NC_000004.12:54261125:A:G p.(Leu27=) NC_000004.12:54261125:A:G Identity +NM_000445.5:c.11487C>T NP_000436.2:p.Ala3829= NC_000008.11:143918414:G:A p.(Ala3829=) NC_000008.11:143918414:G:A p.(Ala3829=) NC_000008.11:143918414:G:A Identity +NM_015295.3:c.3138A>T NP_056110.2:p.Gly1046= NC_000018.10:2732353:A:T p.(Gly1046=) NC_000018.10:2732353:A:T p.(Gly1046=) NC_000018.10:2732353:A:T Identity +NM_024529.5:c.1188T>C NP_078805.3:p.Gly396= NC_000001.11:193233025:T:C p.(Gly396=) NC_000001.11:193233025:T:C p.(Gly396=) NC_000001.11:193233025:T:C Identity +NM_001723.7:c.5553A>G NP_001714.1:p.Gln1851= NC_000006.12:56618480:T:C p.(Gln1851=) NC_000006.12:56618480:T:C p.(Gln1851=) NC_000006.12:56618480:T:C Identity +NM_001278055.2:c.5946G>C NP_001264984.1:p.Gly1982= NC_000013.11:23337488:C:G p.(Gly1982=) NC_000013.11:23337488:C:G p.(Gly1982=) NC_000013.11:23337488:C:G Identity +NM_000222.3:c.1485C>T NP_000213.1:p.Asn495= NC_000004.12:54725994:C:T p.(Asn495=) NC_000004.12:54725994:C:T p.(Asn495=) NC_000004.12:54725994:C:T Identity +NM_001128844.3:c.4458C>T NP_001122316.1:p.Ile1486= NC_000019.10:11058287:C:T p.(Ile1486=) NC_000019.10:11058287:C:T p.(Ile1486=) NC_000019.10:11058287:C:T Identity +NM_001289155.2:c.573C>T NP_001276084.1:p.Ala191= NC_000015.10:74893222:C:T p.(Ala191=) NC_000015.10:74893222:C:T p.(Ala191=) NC_000015.10:74893222:C:T Identity +NM_000181.4:c.684C>A NP_000172.2:p.Ile228= NC_000007.14:65979438:G:T p.(Ile228=) NC_000007.14:65979438:G:T p.(Ile228=) NC_000007.14:65979438:G:T Identity +NM_001305275.2:c.4488C>T NP_001292204.1:p.Gly1496= NC_000001.11:1049424:C:T p.(Gly1496=) NC_000001.11:1049424:C:T p.(Gly1496=) NC_000001.11:1049424:C:T Identity +NM_000081.4:c.10416C>T NP_000072.2:p.Tyr3472= NC_000001.11:235697230:G:A p.(Tyr3472=) NC_000001.11:235697230:G:A p.(Tyr3472=) NC_000001.11:235697230:G:A Identity +NM_006231.4:c.5943C>T NP_006222.2:p.Asn1981= NC_000012.12:132634246:G:A p.(Asn1981=) NC_000012.12:132634246:G:A p.(Asn1981=) NC_000012.12:132634246:G:A Identity +NM_001100112.2:c.609T>G NP_001093582.1:p.Gly203= NC_000017.11:10543940:A:C p.(Gly203=) NC_000017.11:10543940:A:C p.(Gly203=) NC_000017.11:10543940:A:C Identity +NM_001305275.2:c.4228C>T NP_001292204.1:p.Leu1410= NC_000001.11:1048988:C:T p.(Leu1410=) NC_000001.11:1048988:C:T p.(Leu1410=) NC_000001.11:1048988:C:T Identity +NM_015164.4:c.1812C>T NP_055979.2:p.Asn604= NC_000001.11:15728129:C:T p.(Asn604=) NC_000001.11:15728129:C:T p.(Asn604=) NC_000001.11:15728129:C:T Identity +NM_001256850.1:c.21G>A NP_001243779.1:p.Thr7= NC_000002.12:178804621:C:T p.(Thr7=) NC_000002.12:178804621:C:T p.(Thr7=) NC_000002.12:178804621:C:T Identity +NM_001079.4:c.1560C>T NP_001070.2:p.Ser520= NC_000002.12:97737833:C:T p.(Ser520=) NC_000002.12:97737833:C:T p.(Ser520=) NC_000002.12:97737833:C:T Identity +NM_001164507.2:c.4740C>T NP_001157979.2:p.Tyr1580= NC_000002.12:151666380:G:A p.(Tyr1580=) NC_000002.12:151666380:G:A p.(Tyr1580=) NC_000002.12:151666380:G:A Identity +NM_000445.5:c.12816C>T NP_000436.2:p.Ser4272= NC_000008.11:143917085:G:A p.(Ser4272=) NC_000008.11:143917085:G:A p.(Ser4272=) NC_000008.11:143917085:G:A Identity +NM_001169122.2:c.3549C>T NP_001162593.1:p.Asn1183= NC_000023.11:148987396:C:T p.(Asn1183=) NC_000023.11:148987396:C:T p.(Asn1183=) NC_000023.11:148987396:C:T Identity +NM_020919.4:c.3078G>A NP_065970.2:p.Gln1026= NC_000002.12:201726767:C:T p.(Gln1026=) NC_000002.12:201726767:C:T p.(Gln1026=) NC_000002.12:201726767:C:T Identity +NM_001079846.1:c.6609A>G NP_001073315.1:p.Pro2203= NC_000016.10:3728323:T:C p.(Pro2203=) NC_000016.10:3728323:T:C p.(Pro2203=) NC_000016.10:3728323:T:C Identity +NM_001365536.1:c.2601T>A NP_001352465.1:p.Gly867= NC_000002.12:166277255:A:T p.(Gly867=) NC_000002.12:166277255:A:T p.(Gly867=) NC_000002.12:166277255:A:T Identity +NM_001142463.3:c.877T>C NP_001135935.1:p.Leu293= NC_000023.11:154769271:T:C p.(Leu293=) NC_000023.11:154769271:T:C p.(Leu293=) NC_000023.11:154769271:T:C Identity +NM_001012301.4:c.828C>T NP_001012301.1:p.Asn276= NC_000005.10:150298095:G:A p.(Asn276=) NC_000005.10:150298095:G:A p.(Asn276=) NC_000005.10:150298095:G:A Identity +NM_000028.3:c.93A>G NP_000019.2:p.Leu31= NC_000001.11:99861512:A:G p.(Leu31=) NC_000001.11:99861512:A:G p.(Leu31=) NC_000001.11:99861512:A:G Identity +NM_001256182.2:c.1086C>T NP_001243111.1:p.Asp362= NC_000016.10:89285455:G:A p.(Asp362=) NC_000016.10:89285455:G:A p.(Asp362=) NC_000016.10:89285455:G:A Identity +NM_000088.4:c.324C>T NP_000079.2:p.Thr108= NC_000017.11:50199564:G:A p.(Thr108=) NC_000017.11:50199564:G:A p.(Thr108=) NC_000017.11:50199564:G:A Identity +NM_001164507.2:c.4218A>G NP_001157979.2:p.Lys1406= NC_000002.12:151672449:T:C p.(Lys1406=) NC_000002.12:151672449:T:C p.(Lys1406=) NC_000002.12:151672449:T:C Identity +NM_004104.5:c.1248A>G NP_004095.4:p.Pro416= NC_000017.11:82091465:T:C p.(Pro416=) NC_000017.11:82091465:T:C p.(Pro416=) NC_000017.11:82091465:T:C Identity +NM_014244.5:c.2835G>A NP_055059.2:p.Pro945= NC_000005.10:179125095:C:T p.(Pro945=) NC_000005.10:179125095:C:T p.(Pro945=) NC_000005.10:179125095:C:T Identity +NM_001166136.2:c.2007C>T NP_001159608.1:p.Asp669= NC_000004.12:5622790:G:A p.(Asp669=) NC_000004.12:5622790:G:A p.(Asp669=) NC_000004.12:5622790:G:A Identity +NM_001164617.2:c.531C>T NP_001158089.1:p.Val177= NC_000023.11:133753982:G:A p.(Val177=) NC_000023.11:133753982:G:A p.(Val177=) NC_000023.11:133753982:G:A Identity +NM_153240.5:c.1038A>G NP_694972.3:p.Glu346= NC_000003.12:132713205:T:C p.(Glu346=) NC_000003.12:132713205:T:C p.(Glu346=) NC_000003.12:132713205:T:C Identity +NM_001184985.2:c.618G>A NP_001171914.1:p.Glu206= NC_000012.12:754182:G:A p.(Glu206=) NC_000012.12:754182:G:A p.(Glu206=) NC_000012.12:754182:G:A Identity +NM_012293.3:c.2097C>T NP_036425.1:p.Asn699= NC_000002.12:1653634:G:A p.(Asn699=) NC_000002.12:1653634:G:A p.(Asn699=) NC_000002.12:1653634:G:A Identity +NM_001100112.2:c.2631G>A NP_001093582.1:p.Lys877= NC_000017.11:10531698:C:T p.(Lys877=) NC_000017.11:10531698:C:T p.(Lys877=) NC_000017.11:10531698:C:T Identity +NM_004170.6:c.1515T>C NP_004161.4:p.Asn505= NC_000009.12:4585497:T:C p.(Asn505=) NC_000009.12:4585497:T:C p.(Asn505=) NC_000009.12:4585497:T:C Identity +NM_023002.3:c.660A>G NP_075378.1:p.Gln220= NC_000019.10:19258679:T:C p.(Gln220=) NC_000019.10:19258679:T:C p.(Gln220=) NC_000019.10:19258679:T:C Identity +NM_002976.4:c.1398A>G NP_002967.2:p.Lys466= NC_000002.12:166444989:T:C p.(Lys466=) NC_000002.12:166444989:T:C p.(Lys466=) NC_000002.12:166444989:T:C Identity +NM_001002295.2:c.948G>A NP_001002295.1:p.Thr316= NC_000010.11:8069495:G:A p.(Thr316=) NC_000010.11:8069495:G:A p.(Thr316=) NC_000010.11:8069495:G:A Identity +NM_001142605.2:c.2526C>T NP_001136077.1:p.Ala842= NC_000017.11:44852492:G:A p.(Ala842=) NC_000017.11:44852492:G:A p.(Ala842=) NC_000017.11:44852492:G:A Identity +NM_002022.3:c.843C>T NP_002013.1:p.Phe281= NC_000001.11:171334425:C:T p.(Phe281=) NC_000001.11:171334425:C:T p.(Phe281=) NC_000001.11:171334425:C:T Identity +NM_005245.4:c.7590T>C NP_005236.2:p.His2530= NC_000004.12:186618995:A:G p.(His2530=) NC_000004.12:186618995:A:G p.(His2530=) NC_000004.12:186618995:A:G Identity +NM_001100161.2:c.309C>T NP_001093631.1:p.Phe103= NC_000008.11:21970192:C:T p.(Phe103=) NC_000008.11:21970192:C:T p.(Phe103=) NC_000008.11:21970192:C:T Identity +NM_001345975.2:c.579C>G NP_001332904.1:p.Leu193= NC_000005.10:113535760:C:G p.(Leu193=) NC_000005.10:113535760:C:G p.(Leu193=) NC_000005.10:113535760:C:G Identity +NM_001329754.2:c.1068C>T NP_001316683.1:p.His356= NC_000006.12:55760492:G:A p.(His356=) NC_000006.12:55760492:G:A p.(His356=) NC_000006.12:55760492:G:A Identity +NM_006946.4:c.2631G>C NP_008877.2:p.Gly877= NC_000011.10:66704644:C:G p.(Gly877=) NC_000011.10:66704644:C:G p.(Gly877=) NC_000011.10:66704644:C:G Identity +NM_004055.5:c.399C>T NP_004046.2:p.Asp133= NC_000011.10:77112689:C:T p.(Asp133=) NC_000011.10:77112689:C:T p.(Asp133=) NC_000011.10:77112689:C:T Identity +NM_000926.4:c.561G>A NP_000917.3:p.Arg187= NC_000011.10:101128509:C:T p.(Arg187=) NC_000011.10:101128509:C:T p.(Arg187=) NC_000011.10:101128509:C:T Identity +NM_020772.3:c.1662A>G NP_065823.1:p.Ser554= NC_000017.11:29286331:T:C p.(Ser554=) NC_000017.11:29286331:T:C p.(Ser554=) NC_000017.11:29286331:T:C Identity +NM_006818.4:c.213C>T NP_006809.1:p.Thr71= NC_000001.11:151067436:C:T p.(Thr71=) NC_000001.11:151067436:C:T p.(Thr71=) NC_000001.11:151067436:C:T Identity +NM_001184717.1:c.1567A>C NP_001171646.1:p.Arg523= NC_000003.12:156704723:A:C p.(Arg523=) NC_000003.12:156704723:A:C p.(Arg523=) NC_000003.12:156704723:A:C Identity +NM_001835.4:c.1140C>T NP_001826.3:p.Ala380= NC_000022.11:19234535:G:A p.(Ala380=) NC_000022.11:19234535:G:A p.(Ala380=) NC_000022.11:19234535:G:A Identity +NM_001935.4:c.1935C>T NP_001926.2:p.Gly645= NC_000002.12:162008613:G:A p.(Gly645=) NC_000002.12:162008613:G:A p.(Gly645=) NC_000002.12:162008613:G:A Identity +NM_001297592.2:c.1485A>G NP_001284521.1:p.Val495= NC_000004.12:25804726:T:C p.(Val495=) NC_000004.12:25804726:T:C p.(Val495=) NC_000004.12:25804726:T:C Identity +NM_004525.3:c.2886G>C NP_004516.2:p.Ser962= NC_000002.12:169247399:C:G p.(Ser962=) NC_000002.12:169247399:C:G p.(Ser962=) NC_000002.12:169247399:C:G Identity +NM_000203.5:c.1773G>A NP_000194.2:p.Ala591= NC_000004.12:1004056:G:A p.(Ala591=) NC_000004.12:1004056:G:A p.(Ala591=) NC_000004.12:1004056:G:A Identity +NM_001045.6:c.705C>T NP_001036.1:p.His235= NC_000017.11:30217297:G:A p.(His235=) NC_000017.11:30217297:G:A p.(His235=) NC_000017.11:30217297:G:A Identity +NM_000116.5:c.678C>T NP_000107.1:p.Pro226= NC_000023.11:154420242:C:T p.(Pro226=) NC_000023.11:154420242:C:T p.(Pro226=) NC_000023.11:154420242:C:T Identity +NM_003035.2:c.1263A>G NP_003026.2:p.Gln421= NC_000001.11:47281194:T:C p.(Gln421=) NC_000001.11:47281194:T:C p.(Gln421=) NC_000001.11:47281194:T:C Identity +NM_001363540.2:c.3792G>T NP_001350469.1:p.Leu1264= NC_000007.14:111769564:C:A p.(Leu1264=) NC_000007.14:111769564:C:A p.(Leu1264=) NC_000007.14:111769564:C:A Identity +NM_003045.5:c.1620C>T NP_003036.1:p.Ala540= NC_000013.11:29517200:G:A p.(Ala540=) NC_000013.11:29517200:G:A p.(Ala540=) NC_000013.11:29517200:G:A Identity +NM_001282175.2:c.93G>A NP_001269104.1:p.Pro31= NC_000019.10:44962024:G:A p.(Pro31=) NC_000019.10:44962024:G:A p.(Pro31=) NC_000019.10:44962024:G:A Identity +NM_001184772.3:c.4011C>T NP_001171701.1:p.Ser1337= NC_000023.11:130025311:C:T p.(Ser1337=) NC_000023.11:130025311:C:T p.(Ser1337=) NC_000023.11:130025311:C:T Identity +NM_001080418.3:c.1002C>T NP_001073887.1:p.Thr334= NC_000001.11:34904381:G:A p.(Thr334=) NC_000001.11:34904381:G:A p.(Thr334=) NC_000001.11:34904381:G:A Identity +NM_014510.3:c.3006C>T NP_055325.2:p.Ala1002= NC_000007.14:83134543:G:A p.(Ala1002=) NC_000007.14:83134543:G:A p.(Ala1002=) NC_000007.14:83134543:G:A Identity +NM_017431.4:c.618C>T NP_059127.2:p.Phe206= NC_000002.12:218829992:G:A p.(Phe206=) NC_000002.12:218829992:G:A p.(Phe206=) NC_000002.12:218829992:G:A Identity +NM_004259.7:c.1680G>A NP_004250.4:p.Ala560= NC_000017.11:75630656:C:T p.(Ala560=) NC_000017.11:75630656:C:T p.(Ala560=) NC_000017.11:75630656:C:T Identity +NM_001040712.2:c.1605T>C NP_001035802.1:p.Pro535= NC_000009.12:8507363:A:G p.(Pro535=) NC_000009.12:8507363:A:G p.(Pro535=) NC_000009.12:8507363:A:G Identity +NM_001178130.3:c.192C>A NP_001171601.1:p.Thr64= NC_000004.12:109941009:C:A p.(Thr64=) NC_000004.12:109941009:C:A p.(Thr64=) NC_000004.12:109941009:C:A Identity +NM_014753.4:c.3834G>A NP_055568.3:p.Glu1278= NC_000010.11:42831080:G:A p.(Glu1278=) NC_000010.11:42831080:G:A p.(Glu1278=) NC_000010.11:42831080:G:A Identity +NM_001168357.2:c.1284C>T NP_001161829.1:p.His428= NC_000006.12:46704601:G:A p.(His428=) NC_000006.12:46704601:G:A p.(His428=) NC_000006.12:46704601:G:A Identity +NM_001318336.2:c.1741C>T NP_001305265.1:p.Leu581= NC_000010.11:13660520:G:A p.(Leu581=) NC_000010.11:13660520:G:A p.(Leu581=) NC_000010.11:13660520:G:A Identity +NM_152716.3:c.675T>C NP_689929.2:p.Pro225= NC_000011.10:59656546:A:G p.(Pro225=) NC_000011.10:59656546:A:G p.(Pro225=) NC_000011.10:59656546:A:G Identity +NM_001317172.2:c.603C>T NP_001304101.2:p.Ile201= NC_000014.9:100734346:C:T p.(Ile201=) NC_000014.9:100734346:C:T p.(Ile201=) NC_000014.9:100734346:C:T Identity +NM_001278511.2:c.627C>T NP_001265440.1:p.Ser209= NC_000015.10:82680884:G:A p.(Ser209=) NC_000015.10:82680884:G:A p.(Ser209=) NC_000015.10:82680884:G:A Identity +NM_033395.2:c.4518G>A NP_203753.1:p.Gln1506= NC_000011.10:93699429:G:A p.(Gln1506=) NC_000011.10:93699429:G:A p.(Gln1506=) NC_000011.10:93699429:G:A Identity +NM_001116.4:c.2715C>T NP_001107.2:p.Ala905= NC_000016.10:3977594:G:A p.(Ala905=) NC_000016.10:3977594:G:A p.(Ala905=) NC_000016.10:3977594:G:A Identity +NM_001143990.2:c.732C>T NP_001137462.1:p.Tyr244= NC_000017.11:7701458:C:T p.(Tyr244=) NC_000017.11:7701458:C:T p.(Tyr244=) NC_000017.11:7701458:C:T Identity +NM_001346201.2:c.1113C>T NP_001333130.1:p.Ile371= NC_000012.12:64065206:C:T p.(Ile371=) NC_000012.12:64065206:C:T p.(Ile371=) NC_000012.12:64065206:C:T Identity +NM_007184.4:c.1872T>C NP_009115.3:p.Ala624= NC_000003.12:52487363:T:C p.(Ala624=) NC_000003.12:52487363:T:C p.(Ala624=) NC_000003.12:52487363:T:C Identity +NM_183422.4:c.2118A>G NP_904358.2:p.Ala706= NC_000013.11:44573956:T:C p.(Ala706=) NC_000013.11:44573956:T:C p.(Ala706=) NC_000013.11:44573956:T:C Identity +NM_000201.3:c.1095C>T NP_000192.2:p.Asn365= NC_000019.10:10284571:C:T p.(Asn365=) NC_000019.10:10284571:C:T p.(Asn365=) NC_000019.10:10284571:C:T Identity +NM_002386.4:c.477G>A NP_002377.4:p.Pro159= NC_000016.10:89919734:G:A p.(Pro159=) NC_000016.10:89919734:G:A p.(Pro159=) NC_000016.10:89919734:G:A Identity +NM_014740.4:c.867G>A NP_055555.1:p.Lys289= NC_000017.11:80138141:C:T p.(Lys289=) NC_000017.11:80138141:C:T p.(Lys289=) NC_000017.11:80138141:C:T Identity +NM_001253357.2:c.2169C>T NP_001240286.1:p.Ser723= NC_000001.11:43313862:C:T p.(Ser723=) NC_000001.11:43313862:C:T p.(Ser723=) NC_000001.11:43313862:C:T Identity +NM_001127198.5:c.1347C>T NP_001120670.1:p.Ala449= NC_000017.11:78121591:G:A p.(Ala449=) NC_000017.11:78121591:G:A p.(Ala449=) NC_000017.11:78121591:G:A Identity +NM_001145348.2:c.1194G>A NP_001138820.1:p.Thr398= NC_000016.10:27220478:G:A p.(Thr398=) NC_000016.10:27220478:G:A p.(Thr398=) NC_000016.10:27220478:G:A Identity +NM_000532.5:c.741C>T NP_000523.2:p.Ala247= NC_000003.12:136293841:C:T p.(Ala247=) NC_000003.12:136293841:C:T p.(Ala247=) NC_000003.12:136293841:C:T Identity +NM_001142519.3:c.738T>C NP_001135991.1:p.Asn246= NC_000011.10:59152405:T:C p.(Asn246=) NC_000011.10:59152405:T:C p.(Asn246=) NC_000011.10:59152405:T:C Identity +NM_000785.4:c.102C>G NP_000776.1:p.Arg34= NC_000012.12:57766939:G:C p.(Arg34=) NC_000012.12:57766939:G:C p.(Arg34=) NC_000012.12:57766939:G:C Identity +NM_001318336.2:c.1983G>A NP_001305265.1:p.Ala661= NC_000010.11:13659453:C:T p.(Ala661=) NC_000010.11:13659453:C:T p.(Ala661=) NC_000010.11:13659453:C:T Identity +NM_153834.4:c.4269A>G NP_722576.3:p.Ser1423= NC_000023.11:136347974:A:G p.(Ser1423=) NC_000023.11:136347974:A:G p.(Ser1423=) NC_000023.11:136347974:A:G Identity +NM_000445.5:c.1386G>C NP_000436.2:p.Ala462= NC_000008.11:143933309:C:G p.(Ala462=) NC_000008.11:143933309:C:G p.(Ala462=) NC_000008.11:143933309:C:G Identity +NM_001142610.2:c.15T>C NP_001136082.1:p.Gly5= NC_000017.11:19867402:A:G p.(Gly5=) NC_000017.11:19867402:A:G p.(Gly5=) NC_000017.11:19867402:A:G Identity +NM_001943.5:c.2538T>C NP_001934.2:p.Asp846= NC_000018.10:31545923:T:C p.(Asp846=) NC_000018.10:31545923:T:C p.(Asp846=) NC_000018.10:31545923:T:C Identity +NM_152424.4:c.1137C>T NP_689637.3:p.Asp379= NC_000023.11:64192149:G:A p.(Asp379=) NC_000023.11:64192149:G:A p.(Asp379=) NC_000023.11:64192149:G:A Identity +NM_001195573.1:c.654A>G NP_001182502.1:p.Glu218= NC_000014.9:95129551:T:C p.(Glu218=) NC_000014.9:95129551:T:C p.(Glu218=) NC_000014.9:95129551:T:C Identity +NM_020770.3:c.180C>T NP_065821.1:p.Ile60= NC_000001.11:151518698:C:T p.(Ile60=) NC_000001.11:151518698:C:T p.(Ile60=) NC_000001.11:151518698:C:T Identity +NM_001371783.1:c.783G>A NP_001358712.1:p.Leu261= NC_000002.12:100295517:C:T p.(Leu261=) NC_000002.12:100295517:C:T p.(Leu261=) NC_000002.12:100295517:C:T Identity +NM_001256849.1:c.2184C>T NP_001243778.1:p.Ile728= NC_000019.10:50413454:C:T p.(Ile728=) NC_000019.10:50413454:C:T p.(Ile728=) NC_000019.10:50413454:C:T Identity +NM_001242636.2:c.651G>A NP_001229565.1:p.Ala217= NC_000005.10:55890070:G:A p.(Ala217=) NC_000005.10:55890070:G:A p.(Ala217=) NC_000005.10:55890070:G:A Identity +NM_001145715.3:c.1500C>T NP_001139187.1:p.Val500= NC_000007.14:99173758:G:A p.(Val500=) NC_000007.14:99173758:G:A p.(Val500=) NC_000007.14:99173758:G:A Identity +NM_000170.3:c.2229C>T NP_000161.2:p.Phe743= NC_000009.12:6554754:G:A p.(Phe743=) NC_000009.12:6554754:G:A p.(Phe743=) NC_000009.12:6554754:G:A Identity +NM_033026.6:c.11691C>T NP_149015.2:p.Thr3897= NC_000007.14:82916294:G:A p.(Thr3897=) NC_000007.14:82916294:G:A p.(Thr3897=) NC_000007.14:82916294:G:A Identity +NM_000383.4:c.1116G>A NP_000374.1:p.Ser372= NC_000021.9:44293012:G:A p.(Ser372=) NC_000021.9:44293012:G:A p.(Ser372=) NC_000021.9:44293012:G:A Identity +NM_000426.4:c.357C>T NP_000417.3:p.Ile119= NC_000006.12:129059856:C:T p.(Ile119=) NC_000006.12:129059856:C:T p.(Ile119=) NC_000006.12:129059856:C:T Identity +NM_001178133.2:c.831C>T NP_001171604.1:p.Asp277= NC_000010.11:102597213:C:T p.(Asp277=) NC_000010.11:102597213:C:T p.(Asp277=) NC_000010.11:102597213:C:T Identity +NM_138440.3:c.705C>T NP_612449.2:p.Ile235= NC_000016.10:4381581:C:T p.(Ile235=) NC_000016.10:4381581:C:T p.(Ile235=) NC_000016.10:4381581:C:T Identity +NM_001144888.2:c.612G>A NP_001138360.1:p.Val204= NC_000017.11:81100049:G:A p.(Val204=) NC_000017.11:81100049:G:A p.(Val204=) NC_000017.11:81100049:G:A Identity +NM_004939.3:c.1947T>C NP_004930.1:p.Cys649= NC_000002.12:15629672:T:C p.(Cys649=) NC_000002.12:15629672:T:C p.(Cys649=) NC_000002.12:15629672:T:C Identity +NM_001142443.3:c.819G>A NP_001135915.1:p.Thr273= NC_000015.10:74655733:C:T p.(Thr273=) NC_000015.10:74655733:C:T p.(Thr273=) NC_000015.10:74655733:C:T Identity +NM_001961.4:c.2496C>T NP_001952.1:p.Ser832= NC_000019.10:3976634:G:A p.(Ser832=) NC_000019.10:3976634:G:A p.(Ser832=) NC_000019.10:3976634:G:A Identity +NM_006739.4:c.2079C>T NP_006730.2:p.Ser693= NC_000022.11:35423316:C:T p.(Ser693=) NC_000022.11:35423316:C:T p.(Ser693=) NC_000022.11:35423316:C:T Identity +NM_003844.4:c.891C>T NP_003835.3:p.Asn297= NC_000008.11:23199388:G:A p.(Asn297=) NC_000008.11:23199388:G:A p.(Asn297=) NC_000008.11:23199388:G:A Identity +NM_001348729.2:c.3585G>A NP_001335658.1:p.Ser1195= NC_000002.12:8747147:C:T p.(Ser1195=) NC_000002.12:8747147:C:T p.(Ser1195=) NC_000002.12:8747147:C:T Identity +NM_005915.6:c.9C>T NP_005906.2:p.Leu3= NC_000002.12:135876356:G:A p.(Leu3=) NC_000002.12:135876356:G:A p.(Leu3=) NC_000002.12:135876356:G:A Identity +NM_003107.3:c.486C>T NP_003098.1:p.Gly162= NC_000006.12:21595019:C:T p.(Gly162=) NC_000006.12:21595019:C:T p.(Gly162=) NC_000006.12:21595019:C:T Identity +NM_001354666.3:c.894C>A NP_001341595.2:p.Ala298= NC_000003.12:12416867:C:A p.(Ala298=) NC_000003.12:12416867:C:A p.(Ala298=) NC_000003.12:12416867:C:A Identity +NM_000935.3:c.2043G>C NP_000926.2:p.Val681= NC_000003.12:146071056:C:G p.(Val681=) NC_000003.12:146071056:C:G p.(Val681=) NC_000003.12:146071056:C:G Identity +NM_000543.5:c.909A>G NP_000534.3:p.Ala303= NC_000011.10:6391973:A:G p.(Ala303=) NC_000011.10:6391973:A:G p.(Ala303=) NC_000011.10:6391973:A:G Identity +NM_001039111.3:c.237C>T NP_001034200.1:p.Gly79= NC_000003.12:32818316:C:T p.(Gly79=) NC_000003.12:32818316:C:T p.(Gly79=) NC_000003.12:32818316:C:T Identity +NM_018968.4:c.516C>T NP_061841.2:p.Ser172= NC_000002.12:1173107:C:T p.(Ser172=) NC_000002.12:1173107:C:T p.(Ser172=) NC_000002.12:1173107:C:T Identity +NM_001320032.2:c.1797G>A NP_001306961.1:p.Gln599= NC_000003.12:183949766:C:T p.(Gln599=) NC_000003.12:183949766:C:T p.(Gln599=) NC_000003.12:183949766:C:T Identity +NM_001164664.2:c.390C>T NP_001158136.1:p.Pro130= NC_000005.10:66759734:C:T p.(Pro130=) NC_000005.10:66759734:C:T p.(Pro130=) NC_000005.10:66759734:C:T Identity +NM_006113.5:c.295T>C NP_006104.4:p.Leu99= NC_000001.11:107874926:A:G p.(Leu99=) NC_000001.11:107874926:A:G p.(Leu99=) NC_000001.11:107874926:A:G Identity +NM_001276479.2:c.2289G>A NP_001263408.1:p.Gln763= NC_000019.10:5693608:C:T p.(Gln763=) NC_000019.10:5693608:C:T p.(Gln763=) NC_000019.10:5693608:C:T Identity +NM_001351693.2:c.2823A>G NP_001338622.1:p.Pro941= NC_000019.10:39424132:A:G p.(Pro941=) NC_000019.10:39424132:A:G p.(Pro941=) NC_000019.10:39424132:A:G Identity +NM_001242792.2:c.2496G>A NP_001229721.1:p.Ser832= NC_000006.12:83560893:C:T p.(Ser832=) NC_000006.12:83560893:C:T p.(Ser832=) NC_000006.12:83560893:C:T Identity +NM_003286.4:c.594A>G NP_003277.1:p.Glu198= NC_000020.11:41084547:A:G p.(Glu198=) NC_000020.11:41084547:A:G p.(Glu198=) NC_000020.11:41084547:A:G Identity +NM_000050.4:c.957G>A NP_000041.2:p.Glu319= NC_000009.12:130489450:G:A p.(Glu319=) NC_000009.12:130489450:G:A p.(Glu319=) NC_000009.12:130489450:G:A Identity +NM_001288951.2:c.453C>T NP_001275880.1:p.Asp151= NC_000002.12:46956942:C:T p.(Asp151=) NC_000002.12:46956942:C:T p.(Asp151=) NC_000002.12:46956942:C:T Identity +NM_001253854.2:c.960A>G NP_001240783.1:p.Ser320= NC_000010.11:22391757:A:G p.(Ser320=) NC_000010.11:22391757:A:G p.(Ser320=) NC_000010.11:22391757:A:G Identity +NM_178537.5:c.480C>T NP_848632.2:p.Pro160= NC_000011.10:373060:C:T p.(Pro160=) NC_000011.10:373060:C:T p.(Pro160=) NC_000011.10:373060:C:T Identity +NM_004525.3:c.7917A>C NP_004516.2:p.Gly2639= NC_000002.12:169204069:T:G p.(Gly2639=) NC_000002.12:169204069:T:G p.(Gly2639=) NC_000002.12:169204069:T:G Identity +NM_001351273.1:c.6201T>C NP_001338202.1:p.Pro2067= NC_000019.10:1469504:T:C p.(Pro2067=) NC_000019.10:1469504:T:C p.(Pro2067=) NC_000019.10:1469504:T:C Identity +NM_001145845.2:c.420C>T NP_001139317.1:p.Val140= NC_000003.12:78746862:G:A p.(Val140=) NC_000003.12:78746862:G:A p.(Val140=) NC_000003.12:78746862:G:A Identity +NM_001256264.2:c.471G>A NP_001243193.1:p.Pro157= NC_000017.11:18254591:C:T p.(Pro157=) NC_000017.11:18254591:C:T p.(Pro157=) NC_000017.11:18254591:C:T Identity +NM_001042413.2:c.1767G>T NP_001035878.1:p.Arg589= NC_000009.12:3937132:C:A p.(Arg589=) NC_000009.12:3937132:C:A p.(Arg589=) NC_000009.12:3937132:C:A Identity +NM_003028.3:c.1509C>T NP_003019.2:p.Pro503= NC_000009.12:37919841:G:A p.(Pro503=) NC_000009.12:37919841:G:A p.(Pro503=) NC_000009.12:37919841:G:A Identity +NM_021978.4:c.798G>A NP_068813.1:p.Ala266= NC_000011.10:130190616:G:A p.(Ala266=) NC_000011.10:130190616:G:A p.(Ala266=) NC_000011.10:130190616:G:A Identity +NM_206918.3:c.462C>T NP_996801.2:p.Cys154= NC_000014.9:100149330:G:A p.(Cys154=) NC_000014.9:100149330:G:A p.(Cys154=) NC_000014.9:100149330:G:A Identity +NM_006255.5:c.1753C>T NP_006246.2:p.Leu585= NC_000014.9:61530586:C:T p.(Leu585=) NC_000014.9:61530586:C:T p.(Leu585=) NC_000014.9:61530586:C:T Identity +NM_005215.4:c.2158C>T NP_005206.2:p.Leu720= NC_000018.10:53322150:C:T p.(Leu720=) NC_000018.10:53322150:C:T p.(Leu720=) NC_000018.10:53322150:C:T Identity +NM_001376.5:c.4407G>A NP_001367.2:p.Val1469= NC_000014.9:102001545:G:A p.(Val1469=) NC_000014.9:102001545:G:A p.(Val1469=) NC_000014.9:102001545:G:A Identity +NM_001127214.4:c.672C>T NP_001120686.1:p.Thr224= NC_000016.10:89102608:C:T p.(Thr224=) NC_000016.10:89102608:C:T p.(Thr224=) NC_000016.10:89102608:C:T Identity +NM_001308217.1:c.828A>G NP_001295146.1:p.Gly276= NC_000003.12:156516318:A:G p.(Gly276=) NC_000003.12:156516318:A:G p.(Gly276=) NC_000003.12:156516318:A:G Identity +NM_001128617.3:c.483A>C NP_001122089.1:p.Ala161= NC_000006.12:138945363:T:G p.(Ala161=) NC_000006.12:138945363:T:G p.(Ala161=) NC_000006.12:138945363:T:G Identity +NM_004260.4:c.714G>A NP_004251.4:p.Glu238= NC_000008.11:144516404:C:T p.(Glu238=) NC_000008.11:144516404:C:T p.(Glu238=) NC_000008.11:144516404:C:T Identity +NM_080605.4:c.582G>T NP_542172.2:p.Pro194= NC_000001.11:1232859:G:T p.(Pro194=) NC_000001.11:1232859:G:T p.(Pro194=) NC_000001.11:1232859:G:T Identity +NM_001142800.2:c.7020T>C NP_001136272.1:p.Ala2340= NC_000006.12:63984417:A:G p.(Ala2340=) NC_000006.12:63984417:A:G p.(Ala2340=) NC_000006.12:63984417:A:G Identity +NM_032520.5:c.28T>C NP_115909.1:p.Leu10= NC_000016.10:1351992:T:C p.(Leu10=) NC_000016.10:1351992:T:C p.(Leu10=) NC_000016.10:1351992:T:C Identity +NM_020949.3:c.1128C>T NP_066000.2:p.His376= NC_000003.12:170481153:G:A p.(His376=) NC_000003.12:170481153:G:A p.(His376=) NC_000003.12:170481153:G:A Identity +NM_053053.4:c.243A>T NP_444281.1:p.Gly81= NC_000001.11:166863910:T:A p.(Gly81=) NC_000001.11:166863910:T:A p.(Gly81=) NC_000001.11:166863910:T:A Identity +NM_006545.5:c.738C>T NP_006536.3:p.Cys246= NC_000003.12:50348392:G:A p.(Cys246=) NC_000003.12:50348392:G:A p.(Cys246=) NC_000003.12:50348392:G:A Identity +NM_001004360.5:c.369T>C NP_001004360.3:p.His123= NC_000002.12:115525920:T:C p.(His123=) NC_000002.12:115525920:T:C p.(His123=) NC_000002.12:115525920:T:C Identity +NM_001195822.2:c.675A>G NP_001182751.1:p.Lys225= NC_000009.12:112454040:A:G p.(Lys225=) NC_000009.12:112454040:A:G p.(Lys225=) NC_000009.12:112454040:A:G Identity +NM_000259.3:c.1029A>C NP_000250.3:p.Arg343= NC_000015.10:52405310:T:G p.(Arg343=) NC_000015.10:52405310:T:G p.(Arg343=) NC_000015.10:52405310:T:G Identity +NM_001007553.3:c.1965A>G NP_001007554.1:p.Gln655= NC_000001.11:114720625:T:C p.(Gln655=) NC_000001.11:114720625:T:C p.(Gln655=) NC_000001.11:114720625:T:C Identity +NM_032532.3:c.4695T>C NP_115921.2:p.Tyr1565= NC_000006.12:159249042:T:C p.(Tyr1565=) NC_000006.12:159249042:T:C p.(Tyr1565=) NC_000006.12:159249042:T:C Identity +NM_005302.5:c.1728A>C NP_005293.1:p.Ser576= NC_000007.14:124746638:T:G p.(Ser576=) NC_000007.14:124746638:T:G p.(Ser576=) NC_000007.14:124746638:T:G Identity +NM_015419.4:c.7065G>A NP_056234.2:p.Ala2355= NC_000023.11:3311137:C:T p.(Ala2355=) NC_000023.11:3311137:C:T p.(Ala2355=) NC_000023.11:3311137:C:T Identity +NM_001025160.3:c.966C>T NP_001020331.1:p.Asn322= NC_000019.10:14401689:C:T p.(Asn322=) NC_000019.10:14401689:C:T p.(Asn322=) NC_000019.10:14401689:C:T Identity +NM_021240.4:c.294G>C NP_067063.1:p.Pro98= NC_000009.12:977294:G:C p.(Pro98=) NC_000009.12:977294:G:C p.(Pro98=) NC_000009.12:977294:G:C Identity +NM_152787.5:c.537G>A NP_690000.3:p.Pro179= NC_000023.11:30855127:C:T p.(Pro179=) NC_000023.11:30855127:C:T p.(Pro179=) NC_000023.11:30855127:C:T Identity +NM_001030055.2:c.1026A>G NP_001025226.1:p.Leu342= NC_000014.9:32091694:A:G p.(Leu342=) NC_000014.9:32091694:A:G p.(Leu342=) NC_000014.9:32091694:A:G Identity +NM_032020.5:c.1149T>C NP_114409.2:p.Asp383= NC_000006.12:143501936:A:G p.(Asp383=) NC_000006.12:143501936:A:G p.(Asp383=) NC_000006.12:143501936:A:G Identity +NM_001134779.2:c.636T>C NP_001128251.1:p.Asp212= NC_000005.10:62451932:T:C p.(Asp212=) NC_000005.10:62451932:T:C p.(Asp212=) NC_000005.10:62451932:T:C Identity +NM_001286577.2:c.2988C>T NP_001273506.1:p.Asp996= NC_000011.10:74095399:G:A p.(Asp996=) NC_000011.10:74095399:G:A p.(Asp996=) NC_000011.10:74095399:G:A Identity +NM_001253837.2:c.765C>T NP_001240766.1:p.Phe255= NC_000010.11:100297431:G:A p.(Phe255=) NC_000010.11:100297431:G:A p.(Phe255=) NC_000010.11:100297431:G:A Identity +NM_152722.5:c.1164G>A NP_689935.2:p.Ser388= NC_000011.10:124921224:C:T p.(Ser388=) NC_000011.10:124921224:C:T p.(Ser388=) NC_000011.10:124921224:C:T Identity +NM_001199.4:c.879C>T NP_001190.1:p.Asn293= NC_000008.11:22179746:C:T p.(Asn293=) NC_000008.11:22179746:C:T p.(Asn293=) NC_000008.11:22179746:C:T Identity +NM_001130107.2:c.630C>T NP_001123579.1:p.Pro210= NC_000014.9:103662759:C:T p.(Pro210=) NC_000014.9:103662759:C:T p.(Pro210=) NC_000014.9:103662759:C:T Identity +NM_015354.3:c.1170C>T NP_056169.1:p.Thr390= NC_000009.12:128973215:C:T p.(Thr390=) NC_000009.12:128973215:C:T p.(Thr390=) NC_000009.12:128973215:C:T Identity +NM_017617.5:c.4272G>A NP_060087.3:p.Leu1424= NC_000009.12:136505623:C:T p.(Leu1424=) NC_000009.12:136505623:C:T p.(Leu1424=) NC_000009.12:136505623:C:T Identity +NM_001283009.2:c.1848C>T NP_001269938.1:p.Gly616= NC_000020.11:63689101:C:T p.(Gly616=) NC_000020.11:63689101:C:T p.(Gly616=) NC_000020.11:63689101:C:T Identity +NM_001177660.3:c.99T>A NP_001171131.1:p.Leu33= NC_000010.11:113574358:T:A p.(Leu33=) NC_000010.11:113574358:T:A p.(Leu33=) NC_000010.11:113574358:T:A Identity +NM_001315507.2:c.2715C>T NP_001302436.2:p.Asp905= NC_000008.11:17964627:C:T p.(Asp905=) NC_000008.11:17964627:C:T p.(Asp905=) NC_000008.11:17964627:C:T Identity +NM_001130161.4:c.2502C>T NP_001123633.1:p.Tyr834= NC_000010.11:68886297:C:T p.(Tyr834=) NC_000010.11:68886297:C:T p.(Tyr834=) NC_000010.11:68886297:C:T Identity +NM_001278599.2:c.1767G>A NP_001265528.1:p.Ala589= NC_000019.10:41259789:G:A p.(Ala589=) NC_000019.10:41259789:G:A p.(Ala589=) NC_000019.10:41259789:G:A Identity +NM_016216.4:c.1494G>A NP_057300.2:p.Glu498= NC_000003.12:138162029:C:T p.(Glu498=) NC_000003.12:138162029:C:T p.(Glu498=) NC_000003.12:138162029:C:T Identity +NM_001007793.3:c.591C>T NP_001007794.1:p.Ser197= NC_000010.11:123162249:C:T p.(Ser197=) NC_000010.11:123162249:C:T p.(Ser197=) NC_000010.11:123162249:C:T Identity +NM_000504.4:c.111G>A NP_000495.1:p.Arg37= NC_000013.11:113129491:G:A p.(Arg37=) NC_000013.11:113129491:G:A p.(Arg37=) NC_000013.11:113129491:G:A Identity +NM_000843.4:c.1791C>T NP_000834.2:p.Ile597= NC_000005.10:178986462:G:A p.(Ile597=) NC_000005.10:178986462:G:A p.(Ile597=) NC_000005.10:178986462:G:A Identity +NM_000282.4:c.1491A>G NP_000273.2:p.Gly497= NC_000013.11:100330621:A:G p.(Gly497=) NC_000013.11:100330621:A:G p.(Gly497=) NC_000013.11:100330621:A:G Identity +NM_001127891.3:c.936C>T NP_001121363.1:p.Ser312= NC_000016.10:55489729:C:T p.(Ser312=) NC_000016.10:55489729:C:T p.(Ser312=) NC_000016.10:55489729:C:T Identity +NM_020964.3:c.4134A>G NP_066015.2:p.Glu1378= NC_000018.10:45910591:T:C p.(Glu1378=) NC_000018.10:45910591:T:C p.(Glu1378=) NC_000018.10:45910591:T:C Identity +NM_015295.3:c.2520A>G NP_056110.2:p.Pro840= NC_000018.10:2722579:A:G p.(Pro840=) NC_000018.10:2722579:A:G p.(Pro840=) NC_000018.10:2722579:A:G Identity +NM_022366.3:c.378C>T NP_071761.1:p.Asp126= NC_000001.11:246564369:G:A p.(Asp126=) NC_000001.11:246564369:G:A p.(Asp126=) NC_000001.11:246564369:G:A Identity +NM_001077350.3:c.126G>A NP_001070818.1:p.Pro42= NC_000016.10:130583:C:T p.(Pro42=) NC_000016.10:130583:C:T p.(Pro42=) NC_000016.10:130583:C:T Identity +NM_001190983.2:c.501C>T NP_001177912.1:p.Ala167= NC_000016.10:19078118:C:T p.(Ala167=) NC_000016.10:19078118:C:T p.(Ala167=) NC_000016.10:19078118:C:T Identity +NM_001159.4:c.390G>A NP_001150.3:p.Arg130= NC_000002.12:200599699:G:A p.(Arg130=) NC_000002.12:200599699:G:A p.(Arg130=) NC_000002.12:200599699:G:A Identity +NM_001330069.2:c.618C>T NP_001316998.1:p.Asn206= NC_000014.9:29663776:G:A p.(Asn206=) NC_000014.9:29663776:G:A p.(Asn206=) NC_000014.9:29663776:G:A Identity +NM_032737.4:c.1407G>A NP_116126.3:p.Ser469= NC_000019.10:2433900:C:T p.(Ser469=) NC_000019.10:2433900:C:T p.(Ser469=) NC_000019.10:2433900:C:T Identity +NM_001206609.2:c.765G>A NP_001193538.1:p.Thr255= NC_000012.12:108623590:C:T p.(Thr255=) NC_000012.12:108623590:C:T p.(Thr255=) NC_000012.12:108623590:C:T Identity +NM_001271186.2:c.318T>C NP_001258115.1:p.Tyr106= NC_000023.11:132214401:A:G p.(Tyr106=) NC_000023.11:132214401:A:G p.(Tyr106=) NC_000023.11:132214401:A:G Identity +NM_003128.3:c.6591G>A NP_003119.2:p.Ser2197= NC_000002.12:54664622:G:A p.(Ser2197=) NC_000002.12:54664622:G:A p.(Ser2197=) NC_000002.12:54664622:G:A Identity +NM_001178117.2:c.51G>A NP_001171588.1:p.Ala17= NC_000010.11:87504965:G:A p.(Ala17=) NC_000010.11:87504965:G:A p.(Ala17=) NC_000010.11:87504965:G:A Identity +NM_001142605.2:c.2757T>C NP_001136077.1:p.Asp919= NC_000017.11:44851330:A:G p.(Asp919=) NC_000017.11:44851330:A:G p.(Asp919=) NC_000017.11:44851330:A:G Identity +NM_014481.4:c.177C>T NP_055296.2:p.Pro59= NC_000023.11:55001564:C:T p.(Pro59=) NC_000023.11:55001564:C:T p.(Pro59=) NC_000023.11:55001564:C:T Identity +NM_001330311.2:c.1047C>T NP_001317240.1:p.Val349= NC_000001.11:1339588:G:A p.(Val349=) NC_000001.11:1339588:G:A p.(Val349=) NC_000001.11:1339588:G:A Identity +NM_001037339.2:c.825C>T NP_001032416.1:p.Asp275= NC_000001.11:66365722:C:T p.(Asp275=) NC_000001.11:66365722:C:T p.(Asp275=) NC_000001.11:66365722:C:T Identity +NM_001303404.2:c.375T>C NP_001290333.1:p.Gly125= NC_000010.11:100256390:A:G p.(Gly125=) NC_000010.11:100256390:A:G p.(Gly125=) NC_000010.11:100256390:A:G Identity +NM_001318787.2:c.489T>A NP_001305716.1:p.Thr163= NC_000004.12:153703395:T:A p.(Thr163=) NC_000004.12:153703395:T:A p.(Thr163=) NC_000004.12:153703395:T:A Identity +NM_001018111.3:c.1011T>C NP_001018121.1:p.His337= NC_000007.14:131509376:A:G p.(His337=) NC_000007.14:131509376:A:G p.(His337=) NC_000007.14:131509376:A:G Identity +NM_001304763.2:c.837C>T NP_001291692.1:p.Pro279= NC_000001.11:151287127:C:T p.(Pro279=) NC_000001.11:151287127:C:T p.(Pro279=) NC_000001.11:151287127:C:T Identity +NM_000033.4:c.1960C>T NP_000024.2:p.Leu654= NC_000023.11:153743314:C:T p.(Leu654=) NC_000023.11:153743314:C:T p.(Leu654=) NC_000023.11:153743314:C:T Identity +NM_018848.3:c.570T>C NP_061336.1:p.Ala190= NC_000020.11:10412944:A:G p.(Ala190=) NC_000020.11:10412944:A:G p.(Ala190=) NC_000020.11:10412944:A:G Identity +NM_001098517.2:c.921T>C NP_001091987.1:p.Asp307= NC_000011.10:115214680:A:G p.(Asp307=) NC_000011.10:115214680:A:G p.(Asp307=) NC_000011.10:115214680:A:G Identity +NM_001320793.2:c.216G>A NP_001307722.1:p.Ala72= NC_000002.12:207560326:G:A p.(Ala72=) NC_000002.12:207560326:G:A p.(Ala72=) NC_000002.12:207560326:G:A Identity +NM_001127487.2:c.6726C>T NP_001120959.1:p.Ser2242= NC_000007.14:128854509:C:T p.(Ser2242=) NC_000007.14:128854509:C:T p.(Ser2242=) NC_000007.14:128854509:C:T Identity +NM_001204831.3:c.855G>A NP_001191760.1:p.Arg285= NC_000003.12:43576998:C:T p.(Arg285=) NC_000003.12:43576998:C:T p.(Arg285=) NC_000003.12:43576998:C:T Identity +NM_001378125.1:c.12873G>A NP_001365054.1:p.Gly4291= NC_000002.12:32547914:G:A p.(Gly4291=) NC_000002.12:32547914:G:A p.(Gly4291=) NC_000002.12:32547914:G:A Identity +NM_000143.4:c.765A>G NP_000134.2:p.Val255= NC_000001.11:241506141:T:C p.(Val255=) NC_000001.11:241506141:T:C p.(Val255=) NC_000001.11:241506141:T:C Identity +NM_001002814.3:c.2544G>A NP_001002814.2:p.Ala848= NC_000008.11:37872257:C:T p.(Ala848=) NC_000008.11:37872257:C:T p.(Ala848=) NC_000008.11:37872257:C:T Identity +NM_001134775.2:c.291G>A NP_001128247.1:p.Ala97= NC_000011.10:66261803:G:A p.(Ala97=) NC_000011.10:66261803:G:A p.(Ala97=) NC_000011.10:66261803:G:A Identity +NM_004994.3:c.81C>T NP_004985.2:p.Thr27= NC_000020.11:46009006:C:T p.(Thr27=) NC_000020.11:46009006:C:T p.(Thr27=) NC_000020.11:46009006:C:T Identity +NM_001098612.3:c.771C>T NP_001092082.1:p.Ser257= NC_000019.10:51644019:G:A p.(Ser257=) NC_000019.10:51644019:G:A p.(Ser257=) NC_000019.10:51644019:G:A Identity +NM_001001557.4:c.924C>A NP_001001557.1:p.Gly308= NC_000008.11:96145006:G:T p.(Gly308=) NC_000008.11:96145006:G:T p.(Gly308=) NC_000008.11:96145006:G:T Identity +NM_015909.4:c.711T>C NP_056993.2:p.His237= NC_000002.12:15534577:A:G p.(His237=) NC_000002.12:15534577:A:G p.(His237=) NC_000002.12:15534577:A:G Identity +NM_005002.5:c.498T>C NP_004993.1:p.His166= NC_000012.12:4659122:T:C p.(His166=) NC_000012.12:4659122:T:C p.(His166=) NC_000012.12:4659122:T:C Identity +NM_000263.4:c.1401A>G NP_000254.2:p.Pro467= NC_000017.11:42543406:A:G p.(Pro467=) NC_000017.11:42543406:A:G p.(Pro467=) NC_000017.11:42543406:A:G Identity +NM_001330615.4:c.63C>T NP_001317544.2:p.Ser21= NC_000003.12:12379773:C:T p.(Ser21=) NC_000003.12:12379773:C:T p.(Ser21=) NC_000003.12:12379773:C:T Identity +NM_001256560.2:c.687A>G NP_001243489.1:p.Lys229= NC_000003.12:58193366:T:C p.(Lys229=) NC_000003.12:58193366:T:C p.(Lys229=) NC_000003.12:58193366:T:C Identity +NM_000127.3:c.1050T>G NP_000118.2:p.Ala350= NC_000008.11:117837113:A:C p.(Ala350=) NC_000008.11:117837113:A:C p.(Ala350=) NC_000008.11:117837113:A:C Identity +NM_001282225.2:c.783C>T NP_001269154.1:p.Asp261= NC_000022.11:17191780:G:A p.(Asp261=) NC_000022.11:17191780:G:A p.(Asp261=) NC_000022.11:17191780:G:A Identity +NM_005149.3:c.1122C>T NP_005140.1:p.His374= NC_000001.11:168312776:C:T p.(His374=) NC_000001.11:168312776:C:T p.(His374=) NC_000001.11:168312776:C:T Identity +NM_001681.4:c.2748C>T NP_001672.1:p.Ser916= NC_000012.12:110346006:C:T p.(Ser916=) NC_000012.12:110346006:C:T p.(Ser916=) NC_000012.12:110346006:C:T Identity +NM_001313915.2:c.144T>A NP_001300844.1:p.Ser48= NC_000002.12:88595504:A:T p.(Ser48=) NC_000002.12:88595504:A:T p.(Ser48=) NC_000002.12:88595504:A:T Identity +NM_001286581.2:c.4065T>C NP_001273510.1:p.Ala1355= NC_000011.10:609520:T:C p.(Ala1355=) NC_000011.10:609520:T:C p.(Ala1355=) NC_000011.10:609520:T:C Identity +NM_001127178.3:c.2331A>G NP_001120650.1:p.Leu777= NC_000004.12:530504:A:G p.(Leu777=) NC_000004.12:530504:A:G p.(Leu777=) NC_000004.12:530504:A:G Identity +NM_001366178.1:c.348C>T NP_001353107.1:p.Asp116= NC_000019.10:35778540:C:T p.(Asp116=) NC_000019.10:35778540:C:T p.(Asp116=) NC_000019.10:35778540:C:T Identity +NM_005252.4:c.189G>A NP_005243.1:p.Thr63= NC_000014.9:75279923:G:A p.(Thr63=) NC_000014.9:75279923:G:A p.(Thr63=) NC_000014.9:75279923:G:A Identity +NM_001256071.3:c.9369C>T NP_001243000.2:p.Leu3123= NC_000017.11:80347703:C:T p.(Leu3123=) NC_000017.11:80347703:C:T p.(Leu3123=) NC_000017.11:80347703:C:T Identity +NM_000414.4:c.1713A>G NP_000405.1:p.Gln571= NC_000005.10:119527164:A:G p.(Gln571=) NC_000005.10:119527164:A:G p.(Gln571=) NC_000005.10:119527164:A:G Identity +NM_001204466.2:c.1875A>G NP_001191395.1:p.Ala625= NC_000023.11:47185306:A:G p.(Ala625=) NC_000023.11:47185306:A:G p.(Ala625=) NC_000023.11:47185306:A:G Identity +NM_001321431.2:c.7842C>T NP_001308360.1:p.Cys2614= NC_000019.10:8073157:G:A p.(Cys2614=) NC_000019.10:8073157:G:A p.(Cys2614=) NC_000019.10:8073157:G:A Identity +NM_015089.4:c.4212G>A NP_055904.1:p.Gln1404= NC_000006.12:43204411:G:A p.(Gln1404=) NC_000006.12:43204411:G:A p.(Gln1404=) NC_000006.12:43204411:G:A Identity +NM_152701.5:c.6678C>T NP_689914.3:p.Asn2226= NC_000007.14:48276343:C:T p.(Asn2226=) NC_000007.14:48276343:C:T p.(Asn2226=) NC_000007.14:48276343:C:T Identity +NM_005560.6:c.7179C>T NP_005551.3:p.Asp2393= NC_000020.11:62318513:G:A p.(Asp2393=) NC_000020.11:62318513:G:A p.(Asp2393=) NC_000020.11:62318513:G:A Identity +NM_000208.4:c.3615G>A NP_000199.2:p.Pro1205= NC_000019.10:7120663:C:T p.(Pro1205=) NC_000019.10:7120663:C:T p.(Pro1205=) NC_000019.10:7120663:C:T Identity +NM_001161560.3:c.2748T>A NP_001155032.1:p.Ala916= NC_000003.12:171087455:A:T p.(Ala916=) NC_000003.12:171087455:A:T p.(Ala916=) NC_000003.12:171087455:A:T Identity +NM_001136029.4:c.2322C>T NP_001129501.1:p.Ile774= NC_000022.11:31837149:C:T p.(Ile774=) NC_000022.11:31837149:C:T p.(Ile774=) NC_000022.11:31837149:C:T Identity +NM_001294332.2:c.1068C>A NP_001281261.1:p.Pro356= NC_000005.10:235290:C:A p.(Pro356=) NC_000005.10:235290:C:A p.(Pro356=) NC_000005.10:235290:C:A Identity +NM_001256959.2:c.1158C>T NP_001243888.2:p.Ile386= NC_000001.11:11829297:C:T p.(Ile386=) NC_000001.11:11829297:C:T p.(Ile386=) NC_000001.11:11829297:C:T Identity +NM_001145642.5:c.1545C>T NP_001139114.1:p.His515= NC_000003.12:197694378:G:A p.(His515=) NC_000003.12:197694378:G:A p.(His515=) NC_000003.12:197694378:G:A Identity +NM_001375644.1:c.15A>G NP_001362573.1:p.Leu5= NC_000004.12:145639153:A:G p.(Leu5=) NC_000004.12:145639153:A:G p.(Leu5=) NC_000004.12:145639153:A:G Identity +NM_001321851.1:c.5886G>A NP_001308780.1:p.Ala1962= NC_000014.9:91969723:C:T p.(Ala1962=) NC_000014.9:91969723:C:T p.(Ala1962=) NC_000014.9:91969723:C:T Identity +NM_005055.5:c.246C>T NP_005046.2:p.Leu82= NC_000011.10:47448096:G:A p.(Leu82=) NC_000011.10:47448096:G:A p.(Leu82=) NC_000011.10:47448096:G:A Identity +NM_020949.3:c.747C>T NP_066000.2:p.His249= NC_000003.12:170498678:G:A p.(His249=) NC_000003.12:170498678:G:A p.(His249=) NC_000003.12:170498678:G:A Identity +NM_001363518.2:c.903C>T NP_001350447.1:p.Leu301= NC_000010.11:71362316:C:T p.(Leu301=) NC_000010.11:71362316:C:T p.(Leu301=) NC_000010.11:71362316:C:T Identity +NM_001318186.2:c.990A>T NP_001305115.1:p.Pro330= NC_000009.12:83971302:T:A p.(Pro330=) NC_000009.12:83971302:T:A p.(Pro330=) NC_000009.12:83971302:T:A Identity +NM_001042544.1:c.3678C>T NP_001036009.1:p.Thr1226= NC_000019.10:40622659:C:T p.(Thr1226=) NC_000019.10:40622659:C:T p.(Thr1226=) NC_000019.10:40622659:C:T Identity +NM_004667.6:c.9723T>C NP_004658.3:p.Ser3241= NC_000015.10:28175619:A:G p.(Ser3241=) NC_000015.10:28175619:A:G p.(Ser3241=) NC_000015.10:28175619:A:G Identity +NM_017721.5:c.2775C>T NP_060191.3:p.Asn925= NC_000019.10:13930141:C:T p.(Asn925=) NC_000019.10:13930141:C:T p.(Asn925=) NC_000019.10:13930141:C:T Identity +NM_019043.4:c.624C>T NP_061916.3:p.Phe208= NC_000010.11:26511838:C:T p.(Phe208=) NC_000010.11:26511838:C:T p.(Phe208=) NC_000010.11:26511838:C:T Identity +NM_000240.4:c.702C>T NP_000231.1:p.Leu234= NC_000023.11:43731296:C:T p.(Leu234=) NC_000023.11:43731296:C:T p.(Leu234=) NC_000023.11:43731296:C:T Identity +NM_001251882.2:c.960G>A NP_001238811.1:p.Pro320= NC_000003.12:42535046:G:A p.(Pro320=) NC_000003.12:42535046:G:A p.(Pro320=) NC_000003.12:42535046:G:A Identity +NM_020987.5:c.6354C>T NP_066267.2:p.His2118= NC_000010.11:60074526:G:A p.(His2118=) NC_000010.11:60074526:G:A p.(His2118=) NC_000010.11:60074526:G:A Identity +NM_005763.4:c.945C>T NP_005754.2:p.Asn315= NC_000007.14:122115171:G:A p.(Asn315=) NC_000007.14:122115171:G:A p.(Asn315=) NC_000007.14:122115171:G:A Identity +NM_001029851.4:c.1764G>A NP_001025022.1:p.Glu588= NC_000005.10:77418371:G:A p.(Glu588=) NC_000005.10:77418371:G:A p.(Glu588=) NC_000005.10:77418371:G:A Identity +NM_001105247.2:c.2449C>T NP_001098717.1:p.Leu817= NC_000016.10:31466529:C:T p.(Leu817=) NC_000016.10:31466529:C:T p.(Leu817=) NC_000016.10:31466529:C:T Identity +NM_000826.6:c.805T>C NP_000817.5:p.Leu269= NC_000004.12:157321521:T:C p.(Leu269=) NC_000004.12:157321521:T:C p.(Leu269=) NC_000004.12:157321521:T:C Identity +NM_000057.4:c.1362T>C NP_000048.1:p.Asn454= NC_000015.10:90760734:T:C p.(Asn454=) NC_000015.10:90760734:T:C p.(Asn454=) NC_000015.10:90760734:T:C Identity +NM_001173466.2:c.1380T>C NP_001166937.1:p.Arg460= NC_000012.12:53307650:A:G p.(Arg460=) NC_000012.12:53307650:A:G p.(Arg460=) NC_000012.12:53307650:A:G Identity +NM_001040108.2:c.1470T>C NP_001035197.1:p.Ser490= NC_000014.9:75048185:A:G p.(Ser490=) NC_000014.9:75048185:A:G p.(Ser490=) NC_000014.9:75048185:A:G Identity +NM_001270879.2:c.45C>T NP_001257808.1:p.Ala15= NC_000006.12:166366104:G:A p.(Ala15=) NC_000006.12:166366104:G:A p.(Ala15=) NC_000006.12:166366104:G:A Identity +NM_001256850.1:c.41476A>C NP_001243779.1:p.Arg13826= NC_000002.12:178620017:T:G p.(Arg13826=) NC_000002.12:178620017:T:G p.(Arg13826=) NC_000002.12:178620017:T:G Identity +NM_001129765.2:c.291T>C NP_001123237.1:p.Gly97= NC_000023.11:152858792:T:C p.(Gly97=) NC_000023.11:152858792:T:C p.(Gly97=) NC_000023.11:152858792:T:C Identity +NM_000547.6:c.1758C>T NP_000538.3:p.His586= NC_000002.12:1487980:C:T p.(His586=) NC_000002.12:1487980:C:T p.(His586=) NC_000002.12:1487980:C:T Identity +NM_178161.3:c.264C>T NP_835455.1:p.Gly88= NC_000010.11:23192793:C:T p.(Gly88=) NC_000010.11:23192793:C:T p.(Gly88=) NC_000010.11:23192793:C:T Identity +NM_006662.3:c.4872A>G NP_006653.2:p.Ser1624= NC_000016.10:30724295:A:G p.(Ser1624=) NC_000016.10:30724295:A:G p.(Ser1624=) NC_000016.10:30724295:A:G Identity +NM_020461.4:c.1545C>T NP_065194.3:p.Asn515= NC_000022.11:50226788:G:A p.(Asn515=) NC_000022.11:50226788:G:A p.(Asn515=) NC_000022.11:50226788:G:A Identity +NM_017617.5:c.3513C>T NP_060087.3:p.Cys1171= NC_000009.12:136507434:G:A p.(Cys1171=) NC_000009.12:136507434:G:A p.(Cys1171=) NC_000009.12:136507434:G:A Identity +NM_001040108.2:c.1110T>G NP_001035197.1:p.Gly370= NC_000014.9:75048545:A:C p.(Gly370=) NC_000014.9:75048545:A:C p.(Gly370=) NC_000014.9:75048545:A:C Identity +NM_001194998.2:c.756G>A NP_001181927.1:p.Leu252= NC_000015.10:48793396:C:T p.(Leu252=) NC_000015.10:48793396:C:T p.(Leu252=) NC_000015.10:48793396:C:T Identity +NM_144508.5:c.4902T>C NP_653091.3:p.Ser1634= NC_000015.10:40625165:T:C p.(Ser1634=) NC_000015.10:40625165:T:C p.(Ser1634=) NC_000015.10:40625165:T:C Identity +NM_000449.4:c.477T>C NP_000440.1:p.Tyr159= NC_000001.11:151344274:A:G p.(Tyr159=) NC_000001.11:151344274:A:G p.(Tyr159=) NC_000001.11:151344274:A:G Identity +NM_000883.4:c.1275T>C NP_000874.2:p.Gly425= NC_000007.14:128395260:A:G p.(Gly425=) NC_000007.14:128395260:A:G p.(Gly425=) NC_000007.14:128395260:A:G Identity +NM_005069.6:c.648G>A NP_005060.1:p.Ser216= NC_000021.9:36726222:G:A p.(Ser216=) NC_000021.9:36726222:G:A p.(Ser216=) NC_000021.9:36726222:G:A Identity +NM_001321729.2:c.1518C>T NP_001308658.1:p.Tyr506= NC_000002.12:72495464:G:A p.(Tyr506=) NC_000002.12:72495464:G:A p.(Tyr506=) NC_000002.12:72495464:G:A Identity +NM_001291411.2:c.1983A>G NP_001278340.2:p.Thr661= NC_000021.9:33551213:A:G p.(Thr661=) NC_000021.9:33551213:A:G p.(Thr661=) NC_000021.9:33551213:A:G Identity +NM_000791.4:c.441G>A NP_000782.1:p.Thr147= NC_000005.10:80633920:C:T p.(Thr147=) NC_000005.10:80633920:C:T p.(Thr147=) NC_000005.10:80633920:C:T Identity +NM_005309.3:c.306C>T NP_005300.1:p.Asp102= NC_000008.11:144504823:C:T p.(Asp102=) NC_000008.11:144504823:C:T p.(Asp102=) NC_000008.11:144504823:C:T Identity +NM_001077186.2:c.4314G>A NP_001070654.1:p.Glu1438= NC_000019.10:50281715:G:A p.(Glu1438=) NC_000019.10:50281715:G:A p.(Glu1438=) NC_000019.10:50281715:G:A Identity +NM_001003698.4:c.1710G>A NP_001003698.1:p.Gln570= NC_000006.12:7229808:G:A p.(Gln570=) NC_000006.12:7229808:G:A p.(Gln570=) NC_000006.12:7229808:G:A Identity +NM_000490.5:c.150C>A NP_000481.2:p.Gly50= NC_000020.11:3083148:G:T p.(Gly50=) NC_000020.11:3083148:G:T p.(Gly50=) NC_000020.11:3083148:G:T Identity +NM_001354347.2:c.681T>C NP_001341276.2:p.His227= NC_000002.12:189754273:A:G p.(His227=) NC_000002.12:189754273:A:G p.(His227=) NC_000002.12:189754273:A:G Identity +NM_004329.3:c.1543T>C NP_004320.2:p.Leu515= NC_000010.11:86923662:T:C p.(Leu515=) NC_000010.11:86923662:T:C p.(Leu515=) NC_000010.11:86923662:T:C Identity +NM_001079810.4:c.753G>T NP_001073278.1:p.Val251= NC_000002.12:167218194:G:T p.(Val251=) NC_000002.12:167218194:G:T p.(Val251=) NC_000002.12:167218194:G:T Identity +NM_002203.4:c.1302T>C NP_002194.2:p.Ser434= NC_000005.10:53060001:T:C p.(Ser434=) NC_000005.10:53060001:T:C p.(Ser434=) NC_000005.10:53060001:T:C Identity +NM_001297644.1:c.564G>A NP_001284573.1:p.Glu188= NC_000005.10:64786591:G:A p.(Glu188=) NC_000005.10:64786591:G:A p.(Glu188=) NC_000005.10:64786591:G:A Identity +NM_001164664.2:c.6468C>T NP_001158136.1:p.Ser2156= NC_000005.10:67165646:C:T p.(Ser2156=) NC_000005.10:67165646:C:T p.(Ser2156=) NC_000005.10:67165646:C:T Identity +NM_000445.5:c.7416C>T NP_000436.2:p.Ala2472= NC_000008.11:143922593:G:A p.(Ala2472=) NC_000008.11:143922593:G:A p.(Ala2472=) NC_000008.11:143922593:G:A Identity +NM_025216.3:c.732T>G NP_079492.2:p.Leu244= NC_000002.12:218890338:T:G p.(Leu244=) NC_000002.12:218890338:T:G p.(Leu244=) NC_000002.12:218890338:T:G Identity +NM_001350914.2:c.75C>T NP_001337843.1:p.Ala25= NC_000007.14:158871284:C:T p.(Ala25=) NC_000007.14:158871284:C:T p.(Ala25=) NC_000007.14:158871284:C:T Identity +NM_001155.5:c.999G>A NP_001146.2:p.Pro333= NC_000005.10:151126458:C:T p.(Pro333=) NC_000005.10:151126458:C:T p.(Pro333=) NC_000005.10:151126458:C:T Identity +NM_031407.7:c.1416G>A NP_113584.3:p.Pro472= NC_000023.11:53627482:C:T p.(Pro472=) NC_000023.11:53627482:C:T p.(Pro472=) NC_000023.11:53627482:C:T Identity +NM_001172745.3:c.2199G>C NP_001166216.1:p.Leu733= NC_000020.11:18555157:G:C p.(Leu733=) NC_000020.11:18555157:G:C p.(Leu733=) NC_000020.11:18555157:G:C Identity +NM_001197104.2:c.4761A>G NP_001184033.1:p.Gln1587= NC_000011.10:118491259:A:G p.(Gln1587=) NC_000011.10:118491259:A:G p.(Gln1587=) NC_000011.10:118491259:A:G Identity +NM_001297649.2:c.60G>A NP_001284578.1:p.Leu20= NC_000011.10:2394185:G:A p.(Leu20=) NC_000011.10:2394185:G:A p.(Leu20=) NC_000011.10:2394185:G:A Identity +NM_018897.3:c.5532G>A NP_061720.2:p.Leu1844= NC_000002.12:195886146:C:T p.(Leu1844=) NC_000002.12:195886146:C:T p.(Leu1844=) NC_000002.12:195886146:C:T Identity +NM_001346418.1:c.942G>A NP_001333347.1:p.Pro314= NC_000006.12:158980828:C:T p.(Pro314=) NC_000006.12:158980828:C:T p.(Pro314=) NC_000006.12:158980828:C:T Identity +NM_000036.3:c.1174T>C NP_000027.3:p.Leu392= NC_000001.11:114677959:A:G p.(Leu392=) NC_000001.11:114677959:A:G p.(Leu392=) NC_000001.11:114677959:A:G Identity +NM_001283.5:c.16C>T NP_001274.1:p.Leu6= NC_000007.14:101156605:C:T p.(Leu6=) NC_000007.14:101156605:C:T p.(Leu6=) NC_000007.14:101156605:C:T Identity +NM_004369.4:c.7434G>T NP_004360.2:p.Val2478= NC_000002.12:237344583:C:A p.(Val2478=) NC_000002.12:237344583:C:A p.(Val2478=) NC_000002.12:237344583:C:A Identity +NM_003922.4:c.9144C>T NP_003913.3:p.Thr3048= NC_000015.10:63661778:G:A p.(Thr3048=) NC_000015.10:63661778:G:A p.(Thr3048=) NC_000015.10:63661778:G:A Identity +NM_032048.3:c.1248C>T NP_114437.2:p.Ile416= NC_000018.10:2891374:C:T p.(Ile416=) NC_000018.10:2891374:C:T p.(Ile416=) NC_000018.10:2891374:C:T Identity +NM_001323316.2:c.1248C>A NP_001310245.1:p.Ile416= NC_000020.11:38139505:G:T p.(Ile416=) NC_000020.11:38139505:G:T p.(Ile416=) NC_000020.11:38139505:G:T Identity +NM_005526.4:c.429C>T NP_005517.1:p.Asp143= NC_000008.11:144309836:C:T p.(Asp143=) NC_000008.11:144309836:C:T p.(Asp143=) NC_000008.11:144309836:C:T Identity +NM_001171933.1:c.1686C>T NP_001165404.1:p.Ile562= NC_000010.11:71807612:C:T p.(Ile562=) NC_000010.11:71807612:C:T p.(Ile562=) NC_000010.11:71807612:C:T Identity +NM_001752.4:c.282C>T NP_001743.1:p.Tyr94= NC_000011.10:34451030:C:T p.(Tyr94=) NC_000011.10:34451030:C:T p.(Tyr94=) NC_000011.10:34451030:C:T Identity +NM_001037161.2:c.150G>A NP_001032238.1:p.Ala50= NC_000014.9:73537570:G:A p.(Ala50=) NC_000014.9:73537570:G:A p.(Ala50=) NC_000014.9:73537570:G:A Identity +NM_182894.3:c.72C>T NP_878314.1:p.Gly24= NC_000014.9:74239632:C:T p.(Gly24=) NC_000014.9:74239632:C:T p.(Gly24=) NC_000014.9:74239632:C:T Identity +NM_001167582.2:c.1200G>A NP_001161054.1:p.Gln400= NC_000003.12:50066324:G:A p.(Gln400=) NC_000003.12:50066324:G:A p.(Gln400=) NC_000003.12:50066324:G:A Identity +NM_173602.3:c.4332C>T NP_775873.2:p.Thr1444= NC_000012.12:50739563:C:T p.(Thr1444=) NC_000012.12:50739563:C:T p.(Thr1444=) NC_000012.12:50739563:C:T Identity +NM_015691.5:c.1587C>T NP_056506.3:p.Asp529= NC_000023.11:10117270:C:T ERR:TranscriptMismatch:expected C, found T at transcript indices 1911..1912 NC_000023.11:10117273:T:T ERR:NM_015691.5:c.1587C>T: Variant reference (C) does not agree with reference sequence (T) ERR:NM_015691.5:c.1587C>T: Variant reference (C) does not agree with reference sequence (T) Unknown +NM_001281432.2:c.213T>C NP_001268361.1:p.Asp71= NC_000017.11:36493932:T:C p.(Asp71=) NC_000017.11:36493932:T:C p.(Asp71=) NC_000017.11:36493932:T:C Identity +NM_001012662.3:c.597T>G NP_001012680.1:p.Ala199= NC_000011.10:62881313:T:G p.(Ala199=) NC_000011.10:62881313:T:G p.(Ala199=) NC_000011.10:62881313:T:G Identity +NM_022725.4:c.804A>G NP_073562.1:p.Pro268= NC_000011.10:22625006:T:C p.(Pro268=) NC_000011.10:22625006:T:C p.(Pro268=) NC_000011.10:22625006:T:C Identity +NM_001256670.2:c.1113G>A NP_001243599.1:p.Thr371= NC_000011.10:66493085:G:A p.(Thr371=) NC_000011.10:66493085:G:A p.(Thr371=) NC_000011.10:66493085:G:A Identity +NM_000111.3:c.1185T>C NP_000102.1:p.Thr395= NC_000007.14:107783027:A:G p.(Thr395=) NC_000007.14:107783027:A:G p.(Thr395=) NC_000007.14:107783027:A:G Identity +NM_001128225.3:c.1038G>A NP_001121697.2:p.Pro346= NC_000011.10:47415156:G:A p.(Pro346=) NC_000011.10:47415156:G:A p.(Pro346=) NC_000011.10:47415156:G:A Identity +NM_001375471.1:c.774A>G NP_001362400.1:p.Thr258= NC_000003.12:62157157:A:G p.(Thr258=) NC_000003.12:62157157:A:G p.(Thr258=) NC_000003.12:62157157:A:G Identity +NM_001242309.1:c.1638G>C NP_001229238.1:p.Leu546= NC_000010.11:3151250:C:G p.(Leu546=) NC_000010.11:3151250:C:G p.(Leu546=) NC_000010.11:3151250:C:G Identity +NM_014753.4:c.1674T>C NP_055568.3:p.Ser558= NC_000010.11:42796917:T:C p.(Ser558=) NC_000010.11:42796917:T:C p.(Ser558=) NC_000010.11:42796917:T:C Identity +NM_033071.5:c.15303C>T NP_149062.2:p.Thr5101= NC_000006.12:152325224:G:A p.(Thr5101=) NC_000006.12:152325224:G:A p.(Thr5101=) NC_000006.12:152325224:G:A Identity +NM_000572.3:c.48G>A NP_000563.1:p.Val16= NC_000001.11:206772387:C:T p.(Val16=) NC_000001.11:206772387:C:T p.(Val16=) NC_000001.11:206772387:C:T Identity +NM_000160.5:c.1251C>T NP_000151.1:p.Arg417= NC_000017.11:81813505:C:T p.(Arg417=) NC_000017.11:81813505:C:T p.(Arg417=) NC_000017.11:81813505:C:T Identity +NM_001134232.2:c.753C>T NP_001127704.1:p.Val251= NC_000007.14:12231902:C:T p.(Val251=) NC_000007.14:12231902:C:T p.(Val251=) NC_000007.14:12231902:C:T Identity +NM_004535.3:c.1959C>T NP_004526.1:p.Asp653= NC_000020.11:64219022:C:T p.(Asp653=) NC_000020.11:64219022:C:T p.(Asp653=) NC_000020.11:64219022:C:T Identity +NM_001308301.1:c.885C>T NP_001295230.1:p.Asp295= NC_000016.10:46727241:G:A p.(Asp295=) NC_000016.10:46727241:G:A p.(Asp295=) NC_000016.10:46727241:G:A Identity +NM_001321431.2:c.1623C>T NP_001308360.1:p.Cys541= NC_000019.10:8133074:G:A p.(Cys541=) NC_000019.10:8133074:G:A p.(Cys541=) NC_000019.10:8133074:G:A Identity +NM_001003406.2:c.5601G>C NP_001003406.1:p.Leu1867= NC_000022.11:39682536:G:C p.(Leu1867=) NC_000022.11:39682536:G:C p.(Leu1867=) NC_000022.11:39682536:G:C Identity +NM_052843.4:c.19203C>T NP_443075.3:p.Arg6401= NC_000001.11:228360094:C:T p.(Arg6401=) NC_000001.11:228360094:C:T p.(Arg6401=) NC_000001.11:228360094:C:T Identity +NM_001347997.2:c.2967G>A NP_001334926.1:p.Ala989= NC_000009.12:106926878:G:A p.(Ala989=) NC_000009.12:106926878:G:A p.(Ala989=) NC_000009.12:106926878:G:A Identity +NM_015657.4:c.5340C>T NP_056472.2:p.Ala1780= NC_000002.12:214955300:G:A p.(Ala1780=) NC_000002.12:214955300:G:A p.(Ala1780=) NC_000002.12:214955300:G:A Identity +NM_001362843.2:c.5520G>A NP_001349772.1:p.Pro1840= NC_000022.11:41177308:G:A p.(Pro1840=) NC_000022.11:41177308:G:A p.(Pro1840=) NC_000022.11:41177308:G:A Identity +NM_030943.4:c.123C>G NP_112205.2:p.Thr41= NC_000014.9:102923789:C:G p.(Thr41=) NC_000014.9:102923789:C:G p.(Thr41=) NC_000014.9:102923789:C:G Identity +NM_001093.4:c.4335C>T NP_001084.3:p.Phe1445= NC_000012.12:109234032:C:T p.(Phe1445=) NC_000012.12:109234032:C:T p.(Phe1445=) NC_000012.12:109234032:C:T Identity +NM_206933.4:c.12696A>G NP_996816.3:p.Pro4232= NC_000001.11:215675214:T:C p.(Pro4232=) NC_000001.11:215675214:T:C p.(Pro4232=) NC_000001.11:215675214:T:C Identity +NM_001083962.2:c.1395T>C NP_001077431.1:p.His465= NC_000018.10:55234638:A:G p.(His465=) NC_000018.10:55234638:A:G p.(His465=) NC_000018.10:55234638:A:G Identity +NM_001005498.4:c.1143C>T NP_001005498.2:p.Phe381= NC_000017.11:76475113:G:A p.(Phe381=) NC_000017.11:76475113:G:A p.(Phe381=) NC_000017.11:76475113:G:A Identity +NM_001316331.2:c.453C>T NP_001303260.1:p.Thr151= NC_000003.12:51985383:C:T p.(Thr151=) NC_000003.12:51985383:C:T p.(Thr151=) NC_000003.12:51985383:C:T Identity +NM_001031695.4:c.513C>T NP_001026865.1:p.His171= NC_000022.11:35768286:G:A p.(His171=) NC_000022.11:35768286:G:A p.(His171=) NC_000022.11:35768286:G:A Identity +NM_001378891.1:c.5208C>T NP_001365820.1:p.Thr1736= NC_000006.12:117337199:G:A p.(Thr1736=) NC_000006.12:117337199:G:A p.(Thr1736=) NC_000006.12:117337199:G:A Identity +NM_001330588.2:c.2538A>G NP_001317517.1:p.Leu846= NC_000013.11:102647253:A:G p.(Leu846=) NC_000013.11:102647253:A:G p.(Leu846=) NC_000013.11:102647253:A:G Identity +NM_002349.4:c.5052C>T NP_002340.2:p.Gly1684= NC_000002.12:159805160:G:A p.(Gly1684=) NC_000002.12:159805160:G:A p.(Gly1684=) NC_000002.12:159805160:G:A Identity +NM_001104577.2:c.279C>T NP_001098047.1:p.Ala93= NC_000017.11:5034209:G:A p.(Ala93=) NC_000017.11:5034209:G:A p.(Ala93=) NC_000017.11:5034209:G:A Identity +NM_001382.4:c.291C>G NP_001373.2:p.Ala97= NC_000011.10:119100834:G:C p.(Ala97=) NC_000011.10:119100834:G:C p.(Ala97=) NC_000011.10:119100834:G:C Identity +NM_000064.4:c.1491G>A NP_000055.2:p.Lys497= NC_000019.10:6710833:C:T p.(Lys497=) NC_000019.10:6710833:C:T p.(Lys497=) NC_000019.10:6710833:C:T Identity +NM_033071.5:c.2433C>T NP_149062.2:p.Ser811= NC_000006.12:152458912:G:A p.(Ser811=) NC_000006.12:152458912:G:A p.(Ser811=) NC_000006.12:152458912:G:A Identity +NM_001324417.2:c.423A>G NP_001311346.1:p.Arg141= NC_000007.14:88108210:A:G p.(Arg141=) NC_000007.14:88108210:A:G p.(Arg141=) NC_000007.14:88108210:A:G Identity +NM_001199199.3:c.591G>C NP_001186128.1:p.Gly197= NC_000001.11:33013285:C:G p.(Gly197=) NC_000001.11:33013285:C:G p.(Gly197=) NC_000001.11:33013285:C:G Identity +NM_015909.4:c.6219C>T NP_056993.2:p.His2073= NC_000002.12:15232438:G:A p.(His2073=) NC_000002.12:15232438:G:A p.(His2073=) NC_000002.12:15232438:G:A Identity +NM_006745.5:c.303T>C NP_006736.1:p.Leu101= NC_000004.12:165337835:T:C p.(Leu101=) NC_000004.12:165337835:T:C p.(Leu101=) NC_000004.12:165337835:T:C Identity +NM_024105.4:c.1164C>T NP_077010.1:p.Asp388= NC_000022.11:49904252:G:A p.(Asp388=) NC_000022.11:49904252:G:A p.(Asp388=) NC_000022.11:49904252:G:A Identity +NM_001144964.1:c.984G>A NP_001138436.1:p.Ser328= NC_000018.10:58341766:G:A p.(Ser328=) NC_000018.10:58341766:G:A p.(Ser328=) NC_000018.10:58341766:G:A Identity +NM_001195573.1:c.810G>A NP_001182502.1:p.Leu270= NC_000014.9:95126672:C:T p.(Leu270=) NC_000014.9:95126672:C:T p.(Leu270=) NC_000014.9:95126672:C:T Identity +NM_001145923.2:c.1305G>A NP_001139395.1:p.Glu435= NC_000015.10:76728716:C:T p.(Glu435=) NC_000015.10:76728716:C:T p.(Glu435=) NC_000015.10:76728716:C:T Identity +NM_001161587.2:c.1209T>C NP_001155059.1:p.Asn403= NC_000019.10:48974640:A:G p.(Asn403=) NC_000019.10:48974640:A:G p.(Asn403=) NC_000019.10:48974640:A:G Identity +NM_001005463.3:c.1602C>T NP_001005463.1:p.Ser534= NC_000010.11:129840266:G:A p.(Ser534=) NC_000010.11:129840266:G:A p.(Ser534=) NC_000010.11:129840266:G:A Identity +NM_001314042.2:c.4299A>T NP_001300971.1:p.Arg1433= NC_000001.11:202730012:T:A p.(Arg1433=) NC_000001.11:202730012:T:A p.(Arg1433=) NC_000001.11:202730012:T:A Identity +NM_001378414.1:c.453G>A NP_001365343.1:p.Lys151= NC_000002.12:239176449:C:T p.(Lys151=) NC_000002.12:239176449:C:T p.(Lys151=) NC_000002.12:239176449:C:T Identity +NM_004260.4:c.1716C>T NP_004251.4:p.Ala572= NC_000008.11:144514350:G:A p.(Ala572=) NC_000008.11:144514350:G:A p.(Ala572=) NC_000008.11:144514350:G:A Identity +NM_012469.4:c.2484C>G NP_036601.2:p.Thr828= NC_000020.11:64029428:C:G p.(Thr828=) NC_000020.11:64029428:C:G p.(Thr828=) NC_000020.11:64029428:C:G Identity +NM_003924.4:c.114G>A NP_003915.2:p.Gln38= NC_000004.12:41748496:C:T p.(Gln38=) NC_000004.12:41748496:C:T p.(Gln38=) NC_000004.12:41748496:C:T Identity +NM_001195573.1:c.5184C>A NP_001182502.1:p.Ser1728= NC_000014.9:95094067:G:T p.(Ser1728=) NC_000014.9:95094067:G:T p.(Ser1728=) NC_000014.9:95094067:G:T Identity +NM_001122670.2:c.1401G>A NP_001116142.1:p.Glu467= NC_000023.11:72644419:C:T p.(Glu467=) NC_000023.11:72644419:C:T p.(Glu467=) NC_000023.11:72644419:C:T Identity +NM_015205.3:c.2421T>A NP_056020.2:p.Ile807= NC_000013.11:112857819:T:A p.(Ile807=) NC_000013.11:112857819:T:A p.(Ile807=) NC_000013.11:112857819:T:A Identity +NM_000154.2:c.657C>T NP_000145.1:p.Ala219= NC_000017.11:75762839:G:A p.(Ala219=) NC_000017.11:75762839:G:A p.(Ala219=) NC_000017.11:75762839:G:A Identity +NM_014808.4:c.2472C>T NP_055623.1:p.Tyr824= NC_000002.12:241490011:C:T p.(Tyr824=) NC_000002.12:241490011:C:T p.(Tyr824=) NC_000002.12:241490011:C:T Identity +NM_001270521.2:c.3243C>G NP_001257450.1:p.Gly1081= NC_000006.12:131593160:G:C p.(Gly1081=) NC_000006.12:131593160:G:C p.(Gly1081=) NC_000006.12:131593160:G:C Identity +NM_001351527.2:c.2232A>C NP_001338456.1:p.Thr744= NC_000009.12:132329365:T:G p.(Thr744=) NC_000009.12:132329365:T:G p.(Thr744=) NC_000009.12:132329365:T:G Identity +NM_015512.5:c.1803G>A NP_056327.4:p.Glu601= NC_000003.12:52346617:G:A p.(Glu601=) NC_000003.12:52346617:G:A p.(Glu601=) NC_000003.12:52346617:G:A Identity +NM_001080976.3:c.753G>A NP_001074445.1:p.Thr251= NC_000006.12:116431035:G:A p.(Thr251=) NC_000006.12:116431035:G:A p.(Thr251=) NC_000006.12:116431035:G:A Identity +NM_000089.4:c.1926A>G NP_000080.2:p.Pro642= NC_000007.14:94417785:A:G p.(Pro642=) NC_000007.14:94417785:A:G p.(Pro642=) NC_000007.14:94417785:A:G Identity +NM_001098623.2:c.11442A>G NP_001092093.2:p.Arg3814= NC_000001.11:228294825:A:G p.(Arg3814=) NC_000001.11:228294825:A:G p.(Arg3814=) NC_000001.11:228294825:A:G Identity +NM_000327.4:c.702C>T NP_000318.2:p.Tyr234= NC_000011.10:62614368:C:T p.(Tyr234=) NC_000011.10:62614368:C:T p.(Tyr234=) NC_000011.10:62614368:C:T Identity +NM_001204425.2:c.3783C>T NP_001191354.2:p.Ile1261= NC_000013.11:102866732:C:T p.(Ile1261=) NC_000013.11:102866732:C:T p.(Ile1261=) NC_000013.11:102866732:C:T Identity +NM_001164507.2:c.10074C>T NP_001157979.2:p.His3358= NC_000002.12:151627591:G:A p.(His3358=) NC_000002.12:151627591:G:A p.(His3358=) NC_000002.12:151627591:G:A Identity +NM_001371986.1:c.3243C>T NP_001358915.1:p.Leu1081= NC_000002.12:209839422:C:T p.(Leu1081=) NC_000002.12:209839422:C:T p.(Leu1081=) NC_000002.12:209839422:C:T Identity +NM_001351273.1:c.5154C>T NP_001338202.1:p.Ser1718= NC_000019.10:1468457:C:T p.(Ser1718=) NC_000019.10:1468457:C:T p.(Ser1718=) NC_000019.10:1468457:C:T Identity +NM_000398.7:c.66G>A NP_000389.1:p.Leu22= NC_000022.11:42636801:C:T p.(Leu22=) NC_000022.11:42636801:C:T p.(Leu22=) NC_000022.11:42636801:C:T Identity +NM_032152.5:c.81G>A NP_115528.4:p.Pro27= NC_000019.10:8499726:C:T p.(Pro27=) NC_000019.10:8499726:C:T p.(Pro27=) NC_000019.10:8499726:C:T Identity +NM_000489.6:c.6024T>C NP_000480.3:p.Asp2008= NC_000023.11:77593781:A:G p.(Asp2008=) NC_000023.11:77593781:A:G p.(Asp2008=) NC_000023.11:77593781:A:G Identity +NM_002204.4:c.1047G>A NP_002195.1:p.Ala349= NC_000017.11:50072072:G:A p.(Ala349=) NC_000017.11:50072072:G:A p.(Ala349=) NC_000017.11:50072072:G:A Identity +NM_005055.5:c.549G>C NP_005046.2:p.Leu183= NC_000011.10:47442796:C:G p.(Leu183=) NC_000011.10:47442796:C:G p.(Leu183=) NC_000011.10:47442796:C:G Identity +NM_005977.4:c.1089A>G NP_005968.1:p.Ala363= NC_000013.11:26214792:T:C p.(Ala363=) NC_000013.11:26214792:T:C p.(Ala363=) NC_000013.11:26214792:T:C Identity +NM_001007267.3:c.882C>T NP_001007268.1:p.Leu294= NC_000002.12:160028922:G:A p.(Leu294=) NC_000002.12:160028922:G:A p.(Leu294=) NC_000002.12:160028922:G:A Identity +NM_016614.3:c.9G>A NP_057698.2:p.Leu3= NC_000006.12:24666853:C:T p.(Leu3=) NC_000006.12:24666853:C:T p.(Leu3=) NC_000006.12:24666853:C:T Identity +NM_018646.6:c.1764C>T NP_061116.5:p.Asn588= NC_000007.14:142873591:G:A p.(Asn588=) NC_000007.14:142873591:G:A p.(Asn588=) NC_000007.14:142873591:G:A Identity +NM_033180.5:c.450T>C NP_149420.4:p.Gly150= NC_000011.10:5323847:A:G p.(Gly150=) NC_000011.10:5323847:A:G p.(Gly150=) NC_000011.10:5323847:A:G Identity +NM_173566.3:c.3498A>G NP_775837.2:p.Lys1166= NC_000022.11:31714340:T:C p.(Lys1166=) NC_000022.11:31714340:T:C p.(Lys1166=) NC_000022.11:31714340:T:C Identity +NM_001042517.2:c.177G>A NP_001035982.1:p.Lys59= NC_000013.11:60163589:C:T p.(Lys59=) NC_000013.11:60163589:C:T p.(Lys59=) NC_000013.11:60163589:C:T Identity +NM_001367916.1:c.342A>T NP_001354845.1:p.Ile114= NC_000023.11:77870855:T:A p.(Ile114=) NC_000023.11:77870855:T:A p.(Ile114=) NC_000023.11:77870855:T:A Identity +NM_001363540.2:c.2937T>C NP_001350469.1:p.Ile979= NC_000007.14:111811942:A:G p.(Ile979=) NC_000007.14:111811942:A:G p.(Ile979=) NC_000007.14:111811942:A:G Identity +NM_001305942.2:c.151C>T NP_001292871.2:p.Leu51= NC_000009.12:128323095:C:T p.(Leu51=) NC_000009.12:128323095:C:T p.(Leu51=) NC_000009.12:128323095:C:T Identity +NM_000244.4:c.1536C>A NP_000235.3:p.Gly512= NC_000011.10:64804645:G:T p.(Gly512=) NC_000011.10:64804645:G:T p.(Gly512=) NC_000011.10:64804645:G:T Identity +NM_014008.5:c.474G>A NP_054727.1:p.Ser158= NC_000023.11:49243122:G:A p.(Ser158=) NC_000023.11:49243122:G:A p.(Ser158=) NC_000023.11:49243122:G:A Identity +NM_144666.3:c.10704G>A NP_653267.2:p.Pro3568= NC_000011.10:6564751:G:A p.(Pro3568=) NC_000011.10:6564751:G:A p.(Pro3568=) NC_000011.10:6564751:G:A Identity +NM_001297760.2:c.726T>G NP_001284689.1:p.Pro242= NC_000001.11:204141372:A:C p.(Pro242=) NC_000001.11:204141372:A:C p.(Pro242=) NC_000001.11:204141372:A:C Identity +NM_144666.3:c.5769C>T NP_653267.2:p.Leu1923= NC_000011.10:6546707:C:T p.(Leu1923=) NC_000011.10:6546707:C:T p.(Leu1923=) NC_000011.10:6546707:C:T Identity +NM_000283.4:c.1783C>T NP_000274.3:p.Leu595= NC_000004.12:662568:C:T p.(Leu595=) NC_000004.12:662568:C:T p.(Leu595=) NC_000004.12:662568:C:T Identity +NM_000844.4:c.1026G>A NP_000835.1:p.Thr342= NC_000003.12:7306644:G:A p.(Thr342=) NC_000003.12:7306644:G:A p.(Thr342=) NC_000003.12:7306644:G:A Identity +NM_001079515.3:c.1215C>T NP_001072983.1:p.Asn405= NC_000001.11:235438866:C:T p.(Asn405=) NC_000001.11:235438866:C:T p.(Asn405=) NC_000001.11:235438866:C:T Identity +NM_001308022.2:c.5034C>T NP_001294951.1:p.Phe1678= NC_000002.12:217804590:G:A p.(Phe1678=) NC_000002.12:217804590:G:A p.(Phe1678=) NC_000002.12:217804590:G:A Identity +NM_005921.2:c.3639A>G NP_005912.1:p.Gly1213= NC_000005.10:56882838:A:G p.(Gly1213=) NC_000005.10:56882838:A:G p.(Gly1213=) NC_000005.10:56882838:A:G Identity +NM_001105562.3:c.3813C>T NP_001099032.1:p.Asn1271= NC_000001.11:10179527:C:T p.(Asn1271=) NC_000001.11:10179527:C:T p.(Asn1271=) NC_000001.11:10179527:C:T Identity +NM_001351527.2:c.900T>C NP_001338456.1:p.Leu300= NC_000009.12:132331386:A:G p.(Leu300=) NC_000009.12:132331386:A:G p.(Leu300=) NC_000009.12:132331386:A:G Identity +NM_017890.5:c.11145C>T NP_060360.3:p.Leu3715= NC_000008.11:99861800:C:T p.(Leu3715=) NC_000008.11:99861800:C:T p.(Leu3715=) NC_000008.11:99861800:C:T Identity +NM_001161587.2:c.921G>A NP_001155059.1:p.Arg307= NC_000019.10:48981585:C:T p.(Arg307=) NC_000019.10:48981585:C:T p.(Arg307=) NC_000019.10:48981585:C:T Identity +NM_001178015.2:c.1896T>C NP_001171486.1:p.Ile632= NC_000002.12:161905785:T:C p.(Ile632=) NC_000002.12:161905785:T:C p.(Ile632=) NC_000002.12:161905785:T:C Identity +NM_004667.6:c.6558C>T NP_004658.3:p.Ala2186= NC_000015.10:28213969:G:A p.(Ala2186=) NC_000015.10:28213969:G:A p.(Ala2186=) NC_000015.10:28213969:G:A Identity +NM_001317163.2:c.1557C>G NP_001304092.1:p.Gly519= NC_000009.12:121017819:G:C p.(Gly519=) NC_000009.12:121017819:G:C p.(Gly519=) NC_000009.12:121017819:G:C Identity +NM_001256560.2:c.411G>A NP_001243489.1:p.Glu137= NC_000003.12:58201041:C:T p.(Glu137=) NC_000003.12:58201041:C:T p.(Glu137=) NC_000003.12:58201041:C:T Identity +NM_000553.6:c.3540A>C NP_000544.2:p.Thr1180= NC_000008.11:31147443:A:C p.(Thr1180=) NC_000008.11:31147443:A:C p.(Thr1180=) NC_000008.11:31147443:A:C Identity +NM_013382.7:c.1887T>G NP_037514.2:p.Val629= NC_000014.9:77279826:A:C p.(Val629=) NC_000014.9:77279826:A:C p.(Val629=) NC_000014.9:77279826:A:C Identity +NM_000112.4:c.1059T>C NP_000103.2:p.His353= NC_000005.10:149980651:T:C p.(His353=) NC_000005.10:149980651:T:C p.(His353=) NC_000005.10:149980651:T:C Identity +NM_016953.4:c.60G>A NP_058649.3:p.Glu20= NC_000002.12:178072377:C:T p.(Glu20=) NC_000002.12:178072377:C:T p.(Glu20=) NC_000002.12:178072377:C:T Identity +NM_004327.4:c.1368T>C NP_004318.3:p.Ile456= NC_000022.11:23253886:T:C p.(Ile456=) NC_000022.11:23253886:T:C p.(Ile456=) NC_000022.11:23253886:T:C Identity +NM_004818.3:c.1089T>C NP_004809.2:p.Asp363= NC_000012.12:48836715:A:G p.(Asp363=) NC_000012.12:48836715:A:G p.(Asp363=) NC_000012.12:48836715:A:G Identity +NM_000054.7:c.105G>A NP_000045.1:p.Leu35= NC_000023.11:153905610:G:A p.(Leu35=) NC_000023.11:153905610:G:A p.(Leu35=) NC_000023.11:153905610:G:A Identity +NM_000255.4:c.1002G>A NP_000246.2:p.Glu334= NC_000006.12:49453665:C:T p.(Glu334=) NC_000006.12:49453665:C:T p.(Glu334=) NC_000006.12:49453665:C:T Identity +NM_000376.3:c.429C>T NP_000367.1:p.Tyr143= NC_000012.12:47857536:G:A p.(Tyr143=) NC_000012.12:47857536:G:A p.(Tyr143=) NC_000012.12:47857536:G:A Identity +NM_000080.4:c.1419C>A NP_000071.1:p.Ile473= NC_000017.11:4898798:G:T p.(Ile473=) NC_000017.11:4898798:G:T p.(Ile473=) NC_000017.11:4898798:G:T Identity +NM_001128227.3:c.2154C>G NP_001121699.1:p.Ala718= NC_000009.12:36217472:G:C p.(Ala718=) NC_000009.12:36217472:G:C p.(Ala718=) NC_000009.12:36217472:G:C Identity +NM_000379.4:c.702G>A NP_000370.2:p.Val234= NC_000002.12:31386504:C:T p.(Val234=) NC_000002.12:31386504:C:T p.(Val234=) NC_000002.12:31386504:C:T Identity +NM_000244.4:c.228C>T NP_000235.3:p.Thr76= NC_000011.10:64809881:G:A p.(Thr76=) NC_000011.10:64809881:G:A p.(Thr76=) NC_000011.10:64809881:G:A Identity +NM_001309443.2:c.630C>T NP_001296372.1:p.His210= NC_000005.10:151666461:G:A p.(His210=) NC_000005.10:151666461:G:A p.(His210=) NC_000005.10:151666461:G:A Identity +NM_001374769.1:c.1989G>A NP_001361698.1:p.Ser663= NC_000006.12:100390672:C:T p.(Ser663=) NC_000006.12:100390672:C:T p.(Ser663=) NC_000006.12:100390672:C:T Identity +NM_152701.5:c.12894A>G NP_689914.3:p.Leu4298= NC_000007.14:48467033:A:G p.(Leu4298=) NC_000007.14:48467033:A:G p.(Leu4298=) NC_000007.14:48467033:A:G Identity +NM_000548.5:c.372T>C NP_000539.2:p.Phe124= NC_000016.10:2054330:T:C p.(Phe124=) NC_000016.10:2054330:T:C p.(Phe124=) NC_000016.10:2054330:T:C Identity +NM_001098623.2:c.8385G>A NP_001092093.2:p.Val2795= NC_000001.11:228282119:G:A p.(Val2795=) NC_000001.11:228282119:G:A p.(Val2795=) NC_000001.11:228282119:G:A Identity +NM_001321170.1:c.819C>T NP_001308099.1:p.Phe273= NC_000019.10:14565637:C:T p.(Phe273=) NC_000019.10:14565637:C:T p.(Phe273=) NC_000019.10:14565637:C:T Identity +NM_001173533.2:c.555T>G NP_001167004.1:p.Ser185= NC_000022.11:19057109:A:C p.(Ser185=) NC_000022.11:19057109:A:C p.(Ser185=) NC_000022.11:19057109:A:C Identity +NM_002354.3:c.267G>A NP_002345.2:p.Gln89= NC_000002.12:47373889:G:A p.(Gln89=) NC_000002.12:47373889:G:A p.(Gln89=) NC_000002.12:47373889:G:A Identity +NM_052936.5:c.201G>T NP_443168.2:p.Thr67= NC_000023.11:108131266:G:T p.(Thr67=) NC_000023.11:108131266:G:T p.(Thr67=) NC_000023.11:108131266:G:T Identity +NM_001014431.2:c.348G>A NP_001014431.1:p.Glu116= NC_000014.9:104775738:C:T p.(Glu116=) NC_000014.9:104775738:C:T p.(Glu116=) NC_000014.9:104775738:C:T Identity +NM_000445.5:c.2094G>A NP_000436.2:p.Lys698= NC_000008.11:143932198:C:T p.(Lys698=) NC_000008.11:143932198:C:T p.(Lys698=) NC_000008.11:143932198:C:T Identity +NM_144658.4:c.3496T>C NP_653259.3:p.Leu1166= NC_000023.11:118624562:T:C p.(Leu1166=) NC_000023.11:118624562:T:C p.(Leu1166=) NC_000023.11:118624562:T:C Identity +NM_001371272.1:c.3909G>A NP_001358201.1:p.Arg1303= NC_000002.12:73075586:C:T p.(Arg1303=) NC_000002.12:73075586:C:T p.(Arg1303=) NC_000002.12:73075586:C:T Identity +NM_001008537.3:c.2673C>T NP_001008537.1:p.Asn891= NC_000023.11:74741883:G:A p.(Asn891=) NC_000023.11:74741883:G:A p.(Asn891=) NC_000023.11:74741883:G:A Identity +NM_001127384.3:c.540G>A NP_001120856.1:p.Glu180= NC_000010.11:67521880:C:T p.(Glu180=) NC_000010.11:67521880:C:T p.(Glu180=) NC_000010.11:67521880:C:T Identity +NM_001385678.1:c.1155C>T NP_001372607.1:p.Ile385= NC_000019.10:4817180:G:A p.(Ile385=) NC_000019.10:4817180:G:A p.(Ile385=) NC_000019.10:4817180:G:A Identity +NM_004750.5:c.300G>A NP_004741.1:p.Leu100= NC_000019.10:18599661:C:T p.(Leu100=) NC_000019.10:18599661:C:T p.(Leu100=) NC_000019.10:18599661:C:T Identity +NM_001111077.2:c.324A>G NP_001104547.1:p.Glu108= NC_000006.12:158785451:T:C p.(Glu108=) NC_000006.12:158785451:T:C p.(Glu108=) NC_000006.12:158785451:T:C Identity +NM_001843.4:c.2301T>C NP_001834.2:p.Tyr767= NC_000012.12:41016797:T:C p.(Tyr767=) NC_000012.12:41016797:T:C p.(Tyr767=) NC_000012.12:41016797:T:C Identity +NM_000023.4:c.90A>G NP_000014.1:p.Pro30= NC_000017.11:50167419:A:G p.(Pro30=) NC_000017.11:50167419:A:G p.(Pro30=) NC_000017.11:50167419:A:G Identity +NM_012448.4:c.849C>T NP_036580.2:p.Ala283= NC_000017.11:42218862:G:A p.(Ala283=) NC_000017.11:42218862:G:A p.(Ala283=) NC_000017.11:42218862:G:A Identity +NM_001347828.2:c.2859C>T NP_001334757.1:p.Ile953= NC_000004.12:54289017:C:T p.(Ile953=) NC_000004.12:54289017:C:T p.(Ile953=) NC_000004.12:54289017:C:T Identity +NM_001024934.2:c.471C>T NP_001020105.1:p.Phe157= NC_000006.12:110107145:G:A p.(Phe157=) NC_000006.12:110107145:G:A p.(Phe157=) NC_000006.12:110107145:G:A Identity +NM_003412.4:c.552G>C NP_003403.2:p.Pro184= NC_000003.12:147410663:G:C p.(Pro184=) NC_000003.12:147410663:G:C p.(Pro184=) NC_000003.12:147410663:G:C Identity +NM_016474.5:c.981G>A NP_057558.3:p.Pro327= NC_000003.12:14669961:G:A p.(Pro327=) NC_000003.12:14669961:G:A p.(Pro327=) NC_000003.12:14669961:G:A Identity +NM_001849.4:c.2643G>A NP_001840.3:p.Gln881= NC_000021.9:46132134:G:A p.(Gln881=) NC_000021.9:46132134:G:A p.(Gln881=) NC_000021.9:46132134:G:A Identity +NM_001621.5:c.771A>T NP_001612.1:p.Ser257= NC_000007.14:17333976:A:T p.(Ser257=) NC_000007.14:17333976:A:T p.(Ser257=) NC_000007.14:17333976:A:T Identity +NM_001098816.3:c.4659C>T NP_001092286.2:p.Ala1553= NC_000011.10:78701953:G:A p.(Ala1553=) NC_000011.10:78701953:G:A p.(Ala1553=) NC_000011.10:78701953:G:A Identity +NM_024721.5:c.4272G>A NP_078997.4:p.Ala1424= NC_000008.11:76851192:G:A p.(Ala1424=) NC_000008.11:76851192:G:A p.(Ala1424=) NC_000008.11:76851192:G:A Identity +NM_021978.4:c.1341C>T NP_068813.1:p.Tyr447= NC_000011.10:130196686:C:T p.(Tyr447=) NC_000011.10:130196686:C:T p.(Tyr447=) NC_000011.10:130196686:C:T Identity +NM_001321135.2:c.693G>A NP_001308064.1:p.Leu231= NC_000015.10:77031229:G:A p.(Leu231=) NC_000015.10:77031229:G:A p.(Leu231=) NC_000015.10:77031229:G:A Identity +NM_000547.6:c.165C>T NP_000538.3:p.Tyr55= NC_000002.12:1423114:C:T p.(Tyr55=) NC_000002.12:1423114:C:T p.(Tyr55=) NC_000002.12:1423114:C:T Identity +NM_001143990.2:c.1566G>A NP_001137462.1:p.Ala522= NC_000017.11:7703404:G:A p.(Ala522=) NC_000017.11:7703404:G:A p.(Ala522=) NC_000017.11:7703404:G:A Identity +NM_001151.4:c.349C>T NP_001142.2:p.Leu117= NC_000004.12:185145000:C:T p.(Leu117=) NC_000004.12:185145000:C:T p.(Leu117=) NC_000004.12:185145000:C:T Identity +NM_014845.6:c.2145G>A NP_055660.1:p.Val715= NC_000006.12:109789641:G:A p.(Val715=) NC_000006.12:109789641:G:A p.(Val715=) NC_000006.12:109789641:G:A Identity +NM_001323316.2:c.2058C>T NP_001310245.1:p.Pro686= NC_000020.11:38130224:G:A p.(Pro686=) NC_000020.11:38130224:G:A p.(Pro686=) NC_000020.11:38130224:G:A Identity +NM_015114.3:c.1668G>A NP_055929.1:p.Ser556= NC_000012.12:132735437:C:T p.(Ser556=) NC_000012.12:132735437:C:T p.(Ser556=) NC_000012.12:132735437:C:T Identity +NM_001199860.2:c.561G>A NP_001186789.1:p.Thr187= NC_000001.11:6094457:G:A p.(Thr187=) NC_000001.11:6094457:G:A p.(Thr187=) NC_000001.11:6094457:G:A Identity +NM_013321.4:c.297C>T NP_037453.1:p.Ser99= NC_000007.14:2278102:G:A p.(Ser99=) NC_000007.14:2278102:G:A p.(Ser99=) NC_000007.14:2278102:G:A Identity +NM_001080495.3:c.5985G>A NP_001073964.2:p.Thr1995= NC_000007.14:5332783:C:T p.(Thr1995=) NC_000007.14:5332783:C:T p.(Thr1995=) NC_000007.14:5332783:C:T Identity +NM_020987.5:c.11463T>C NP_066267.2:p.Asp3821= NC_000010.11:60069417:A:G p.(Asp3821=) NC_000010.11:60069417:A:G p.(Asp3821=) NC_000010.11:60069417:A:G Identity +NM_001308195.2:c.2577A>G NP_001295124.1:p.Gln859= NC_000005.10:176345345:A:G p.(Gln859=) NC_000005.10:176345345:A:G p.(Gln859=) NC_000005.10:176345345:A:G Identity +NM_015557.3:c.1299C>G NP_056372.1:p.Ala433= NC_000001.11:6148937:G:C p.(Ala433=) NC_000001.11:6148937:G:C p.(Ala433=) NC_000001.11:6148937:G:C Identity +NM_001080495.3:c.2685C>T NP_001073964.2:p.His895= NC_000007.14:5376147:G:A p.(His895=) NC_000007.14:5376147:G:A p.(His895=) NC_000007.14:5376147:G:A Identity +NM_003764.4:c.141C>T NP_003755.2:p.Asp47= NC_000006.12:144186767:C:T p.(Asp47=) NC_000006.12:144186767:C:T p.(Asp47=) NC_000006.12:144186767:C:T Identity +NM_001306079.2:c.400C>T NP_001293008.1:p.Leu134= NC_000002.12:27222240:C:T p.(Leu134=) NC_000002.12:27222240:C:T p.(Leu134=) NC_000002.12:27222240:C:T Identity +NM_001104577.2:c.717A>G NP_001098047.1:p.Gly239= NC_000017.11:5033771:T:C p.(Gly239=) NC_000017.11:5033771:T:C p.(Gly239=) NC_000017.11:5033771:T:C Identity +NM_001001433.3:c.360T>C NP_001001433.1:p.His120= NC_000020.11:58668093:T:C p.(His120=) NC_000020.11:58668093:T:C p.(His120=) NC_000020.11:58668093:T:C Identity +NM_003718.5:c.891C>T NP_003709.3:p.Pro297= NC_000007.14:39951531:C:T p.(Pro297=) NC_000007.14:39951531:C:T p.(Pro297=) NC_000007.14:39951531:C:T Identity +NM_001163034.2:c.2451A>G NP_001156506.1:p.Pro817= NC_000017.11:80940500:A:G p.(Pro817=) NC_000017.11:80940500:A:G p.(Pro817=) NC_000017.11:80940500:A:G Identity +NM_001323316.2:c.1039C>T NP_001310245.1:p.Leu347= NC_000020.11:38141341:G:A p.(Leu347=) NC_000020.11:38141341:G:A p.(Leu347=) NC_000020.11:38141341:G:A Identity +NM_001363755.1:c.1533C>T NP_001350684.1:p.Asp511= NC_000009.12:129900031:G:A p.(Asp511=) NC_000009.12:129900031:G:A p.(Asp511=) NC_000009.12:129900031:G:A Identity +NM_020964.3:c.4062A>G NP_066015.2:p.Arg1354= NC_000018.10:45910663:T:C p.(Arg1354=) NC_000018.10:45910663:T:C p.(Arg1354=) NC_000018.10:45910663:T:C Identity +NM_000757.6:c.1212G>A NP_000748.4:p.Arg404= NC_000001.11:109923832:G:A p.(Arg404=) NC_000001.11:109923832:G:A p.(Arg404=) NC_000001.11:109923832:G:A Identity +NM_001430.5:c.1380C>T NP_001421.2:p.Pro460= NC_000002.12:46378023:C:T p.(Pro460=) NC_000002.12:46378023:C:T p.(Pro460=) NC_000002.12:46378023:C:T Identity +NM_153610.5:c.11499G>A NP_705838.3:p.Thr3833= NC_000005.10:79763152:G:A p.(Thr3833=) NC_000005.10:79763152:G:A p.(Thr3833=) NC_000005.10:79763152:G:A Identity +NM_001163809.2:c.504C>G NP_001157281.1:p.Pro168= NC_000017.11:1725462:C:G p.(Pro168=) NC_000017.11:1725462:C:G p.(Pro168=) NC_000017.11:1725462:C:G Identity +NM_001136052.3:c.525C>T NP_001129524.1:p.Pro175= NC_000019.10:49701387:C:T p.(Pro175=) NC_000019.10:49701387:C:T p.(Pro175=) NC_000019.10:49701387:C:T Identity +NM_001261826.3:c.534C>T NP_001248755.1:p.Pro178= NC_000019.10:2130465:G:A p.(Pro178=) NC_000019.10:2130465:G:A p.(Pro178=) NC_000019.10:2130465:G:A Identity +NM_003742.4:c.93A>G NP_003733.2:p.Lys31= NC_000002.12:169016782:T:C p.(Lys31=) NC_000002.12:169016782:T:C p.(Lys31=) NC_000002.12:169016782:T:C Identity +NM_001177316.2:c.1212G>A NP_001170787.2:p.Gly404= NC_000009.12:137234607:G:A p.(Gly404=) NC_000009.12:137234607:G:A p.(Gly404=) NC_000009.12:137234607:G:A Identity +NM_001318204.2:c.777G>T NP_001305133.1:p.Leu259= NC_000009.12:91733281:C:A p.(Leu259=) NC_000009.12:91733281:C:A p.(Leu259=) NC_000009.12:91733281:C:A Identity +NM_002335.4:c.1077G>A NP_002326.2:p.Thr359= NC_000011.10:68386376:G:A p.(Thr359=) NC_000011.10:68386376:G:A p.(Thr359=) NC_000011.10:68386376:G:A Identity +NM_001029883.3:c.3609G>A NP_001025054.1:p.Pro1203= NC_000002.12:29070652:C:T p.(Pro1203=) NC_000002.12:29070652:C:T p.(Pro1203=) NC_000002.12:29070652:C:T Identity +NM_004535.3:c.2985C>T NP_004526.1:p.Ser995= NC_000020.11:64236641:C:T p.(Ser995=) NC_000020.11:64236641:C:T p.(Ser995=) NC_000020.11:64236641:C:T Identity +NM_003850.3:c.252T>C NP_003841.1:p.Tyr84= NC_000013.11:47996861:A:G p.(Tyr84=) NC_000013.11:47996861:A:G p.(Tyr84=) NC_000013.11:47996861:A:G Identity +NM_000228.3:c.2568C>T NP_000219.2:p.Ala856= NC_000001.11:209622668:G:A p.(Ala856=) NC_000001.11:209622668:G:A p.(Ala856=) NC_000001.11:209622668:G:A Identity +NM_001098623.2:c.16236C>T NP_001092093.2:p.Gly5412= NC_000001.11:228335128:C:T p.(Gly5412=) NC_000001.11:228335128:C:T p.(Gly5412=) NC_000001.11:228335128:C:T Identity +NM_001286503.2:c.96C>T NP_001273432.1:p.Asp32= NC_000013.11:31161486:G:A p.(Asp32=) NC_000013.11:31161486:G:A p.(Asp32=) NC_000013.11:31161486:G:A Identity +NM_001178032.3:c.39G>A NP_001171503.1:p.Glu13= NC_000023.11:64921933:C:T p.(Glu13=) NC_000023.11:64921933:C:T p.(Glu13=) NC_000023.11:64921933:C:T Identity +NM_001690.4:c.318G>A NP_001681.2:p.Leu106= NC_000003.12:113784329:G:A p.(Leu106=) NC_000003.12:113784329:G:A p.(Leu106=) NC_000003.12:113784329:G:A Identity +NM_001385221.1:c.360C>T NP_001372150.1:p.Tyr120= NC_000013.11:20721683:C:T p.(Tyr120=) NC_000013.11:20721683:C:T p.(Tyr120=) NC_000013.11:20721683:C:T Identity +NM_014845.6:c.1386A>G NP_055660.1:p.Glu462= NC_000006.12:109762204:A:G p.(Glu462=) NC_000006.12:109762204:A:G p.(Glu462=) NC_000006.12:109762204:A:G Identity +NM_001290307.3:c.867C>A NP_001277236.1:p.Ile289= NC_000005.10:138827522:C:A p.(Ile289=) NC_000005.10:138827522:C:A p.(Ile289=) NC_000005.10:138827522:C:A Identity +NM_001378213.1:c.1311A>T NP_001365142.1:p.Gly437= NC_000011.10:118902431:T:A p.(Gly437=) NC_000011.10:118902431:T:A p.(Gly437=) NC_000011.10:118902431:T:A Identity +NM_006493.4:c.903T>C NP_006484.2:p.Thr301= NC_000013.11:77000794:T:C p.(Thr301=) NC_000013.11:77000794:T:C p.(Thr301=) NC_000013.11:77000794:T:C Identity +NM_032806.6:c.489C>T NP_116195.2:p.Asn163= NC_000003.12:43080942:G:A p.(Asn163=) NC_000003.12:43080942:G:A p.(Asn163=) NC_000003.12:43080942:G:A Identity +NM_133497.4:c.57G>A NP_598004.1:p.Thr19= NC_000009.12:2717795:G:A p.(Thr19=) NC_000009.12:2717795:G:A p.(Thr19=) NC_000009.12:2717795:G:A Identity +NM_001113511.2:c.1038C>T NP_001106983.1:p.Val346= NC_000013.11:111267571:C:T p.(Val346=) NC_000013.11:111267571:C:T p.(Val346=) NC_000013.11:111267571:C:T Identity +NM_012293.3:c.1203C>T NP_036425.1:p.Asn401= NC_000002.12:1666301:G:A p.(Asn401=) NC_000002.12:1666301:G:A p.(Asn401=) NC_000002.12:1666301:G:A Identity +NM_001256560.2:c.81C>T NP_001243489.1:p.Asn27= NC_000003.12:58210825:G:A p.(Asn27=) NC_000003.12:58210825:G:A p.(Asn27=) NC_000003.12:58210825:G:A Identity +NM_016953.4:c.480G>A NP_058649.3:p.Lys160= NC_000002.12:178071957:C:T p.(Lys160=) NC_000002.12:178071957:C:T p.(Lys160=) NC_000002.12:178071957:C:T Identity +NM_014271.4:c.1938G>A NP_055086.1:p.Gln646= NC_000023.11:29955666:G:A p.(Gln646=) NC_000023.11:29955666:G:A p.(Gln646=) NC_000023.11:29955666:G:A Identity +NM_001003698.4:c.2152C>T NP_001003698.1:p.Leu718= NC_000006.12:7230250:C:T p.(Leu718=) NC_000006.12:7230250:C:T p.(Leu718=) NC_000006.12:7230250:C:T Identity +NM_001172420.2:c.1332G>A NP_001165891.1:p.Gly444= NC_000006.12:52479146:G:A p.(Gly444=) NC_000006.12:52479146:G:A p.(Gly444=) NC_000006.12:52479146:G:A Identity +NM_003749.3:c.159C>T NP_003740.2:p.Pro53= NC_000013.11:109785894:G:A p.(Pro53=) NC_000013.11:109785894:G:A p.(Pro53=) NC_000013.11:109785894:G:A Identity +NM_022719.3:c.684A>C NP_073210.1:p.Pro228= NC_000022.11:19139615:T:G p.(Pro228=) NC_000022.11:19139615:T:G p.(Pro228=) NC_000022.11:19139615:T:G Identity +NM_000540.3:c.2646G>A NP_000531.2:p.Ala882= NC_000019.10:38463490:G:A p.(Ala882=) NC_000019.10:38463490:G:A p.(Ala882=) NC_000019.10:38463490:G:A Identity +NM_000509.6:c.768T>C NP_000500.2:p.Asn256= NC_000004.12:154608548:A:G p.(Asn256=) NC_000004.12:154608548:A:G p.(Asn256=) NC_000004.12:154608548:A:G Identity +NM_152745.3:c.546C>T NP_689958.1:p.Thr182= NC_000007.14:8751498:C:T p.(Thr182=) NC_000007.14:8751498:C:T p.(Thr182=) NC_000007.14:8751498:C:T Identity +NM_001374839.1:c.1041T>C NP_001361768.1:p.His347= NC_000008.11:144413845:A:G p.(His347=) NC_000008.11:144413845:A:G p.(His347=) NC_000008.11:144413845:A:G Identity +NM_001286496.2:c.735G>T NP_001273425.1:p.Leu245= NC_000015.10:64822347:C:A p.(Leu245=) NC_000015.10:64822347:C:A p.(Leu245=) NC_000015.10:64822347:C:A Identity +NM_001330660.2:c.549G>T NP_001317589.1:p.Arg183= NC_000009.12:35744314:C:A p.(Arg183=) NC_000009.12:35744314:C:A p.(Arg183=) NC_000009.12:35744314:C:A Identity +NM_004714.3:c.333C>T NP_004705.1:p.Tyr111= NC_000019.10:39830413:G:A p.(Tyr111=) NC_000019.10:39830413:G:A p.(Tyr111=) NC_000019.10:39830413:G:A Identity +NM_001127396.3:c.552G>A NP_001120868.1:p.Pro184= NC_000019.10:7641835:G:A p.(Pro184=) NC_000019.10:7641835:G:A p.(Pro184=) NC_000019.10:7641835:G:A Identity +NM_001354726.2:c.1488G>A NP_001341655.1:p.Thr496= NC_000003.12:14152382:C:T p.(Thr496=) NC_000003.12:14152382:C:T p.(Thr496=) NC_000003.12:14152382:C:T Identity +NM_001365819.1:c.3582C>T NP_001352748.1:p.Pro1194= NC_000022.11:50459578:G:A p.(Pro1194=) NC_000022.11:50459578:G:A p.(Pro1194=) NC_000022.11:50459578:G:A Identity +NM_001007792.1:c.789G>A NP_001007793.1:p.Ala263= NC_000001.11:156873660:G:A p.(Ala263=) NC_000001.11:156873660:G:A p.(Ala263=) NC_000001.11:156873660:G:A Identity +NM_020366.4:c.270C>T NP_065099.3:p.Val90= NC_000014.9:21301016:C:T p.(Val90=) NC_000014.9:21301016:C:T p.(Val90=) NC_000014.9:21301016:C:T Identity +NM_005245.4:c.8271C>T NP_005236.2:p.Ser2757= NC_000004.12:186618314:G:A p.(Ser2757=) NC_000004.12:186618314:G:A p.(Ser2757=) NC_000004.12:186618314:G:A Identity +NM_022817.3:c.216G>A NP_073728.1:p.Pro72= NC_000002.12:238277720:C:T p.(Pro72=) NC_000002.12:238277720:C:T p.(Pro72=) NC_000002.12:238277720:C:T Identity +NM_001256849.1:c.148C>T NP_001243778.1:p.Leu50= NC_000019.10:50398998:C:T p.(Leu50=) NC_000019.10:50398998:C:T p.(Leu50=) NC_000019.10:50398998:C:T Identity +NM_015906.4:c.1914C>G NP_056990.3:p.Thr638= NC_000001.11:114421582:G:C p.(Thr638=) NC_000001.11:114421582:G:C p.(Thr638=) NC_000001.11:114421582:G:C Identity +NM_014801.4:c.4545C>T NP_055616.3:p.Asn1515= NC_000001.11:233025205:G:A p.(Asn1515=) NC_000001.11:233025205:G:A p.(Asn1515=) NC_000001.11:233025205:G:A Identity +NM_001351273.1:c.6753C>T NP_001338202.1:p.Ala2251= NC_000019.10:1470056:C:T p.(Ala2251=) NC_000019.10:1470056:C:T p.(Ala2251=) NC_000019.10:1470056:C:T Identity +NM_001670.3:c.1062C>A NP_001661.1:p.Arg354= NC_000022.11:19980076:G:T p.(Arg354=) NC_000022.11:19980076:G:T p.(Arg354=) NC_000022.11:19980076:G:T Identity +NM_003005.4:c.2019C>T NP_002996.2:p.Asn673= NC_000001.11:169596006:G:A p.(Asn673=) NC_000001.11:169596006:G:A p.(Asn673=) NC_000001.11:169596006:G:A Identity +NM_001291860.2:c.6231G>A NP_001278789.1:p.Gly2077= NC_000001.11:21854670:C:T p.(Gly2077=) NC_000001.11:21854670:C:T p.(Gly2077=) NC_000001.11:21854670:C:T Identity +NM_001017995.3:c.1128C>T NP_001017995.1:p.Ile376= NC_000005.10:172346195:G:A p.(Ile376=) NC_000005.10:172346195:G:A p.(Ile376=) NC_000005.10:172346195:G:A Identity +NM_001184985.2:c.5868T>G NP_001171914.1:p.Ala1956= NC_000012.12:885891:T:G p.(Ala1956=) NC_000012.12:885891:T:G p.(Ala1956=) NC_000012.12:885891:T:G Identity +NM_001010898.4:c.1029G>A NP_001010898.1:p.Thr343= NC_000001.11:110192135:G:A p.(Thr343=) NC_000001.11:110192135:G:A p.(Thr343=) NC_000001.11:110192135:G:A Identity +NM_005334.3:c.4773A>G NP_005325.2:p.Leu1591= NC_000023.11:153952682:T:C p.(Leu1591=) NC_000023.11:153952682:T:C p.(Leu1591=) NC_000023.11:153952682:T:C Identity +NM_001024937.4:c.3312C>T NP_001020108.1:p.Tyr1104= NC_000017.11:4896009:C:T p.(Tyr1104=) NC_000017.11:4896009:C:T p.(Tyr1104=) NC_000017.11:4896009:C:T Identity +NM_001164507.2:c.8949A>C NP_001157979.2:p.Thr2983= NC_000002.12:151639324:T:G p.(Thr2983=) NC_000002.12:151639324:T:G p.(Thr2983=) NC_000002.12:151639324:T:G Identity +NM_001306090.2:c.1269G>A NP_001293019.1:p.Thr423= NC_000004.12:5753005:G:A p.(Thr423=) NC_000004.12:5753005:G:A p.(Thr423=) NC_000004.12:5753005:G:A Identity +NM_004260.4:c.3165C>T NP_004251.4:p.Leu1055= NC_000008.11:144512214:G:A p.(Leu1055=) NC_000008.11:144512214:G:A p.(Leu1055=) NC_000008.11:144512214:G:A Identity +NM_001440.4:c.42C>T NP_001431.1:p.Asn14= NC_000008.11:28716100:C:T p.(Asn14=) NC_000008.11:28716100:C:T p.(Asn14=) NC_000008.11:28716100:C:T Identity +NM_004813.4:c.42C>T NP_004804.2:p.Tyr14= NC_000011.10:45917769:G:A p.(Tyr14=) NC_000011.10:45917769:G:A p.(Tyr14=) NC_000011.10:45917769:G:A Identity +NM_001723.7:c.6606C>T NP_001714.1:p.Pro2202= NC_000006.12:56616860:G:A p.(Pro2202=) NC_000006.12:56616860:G:A p.(Pro2202=) NC_000006.12:56616860:G:A Identity +NM_002661.5:c.1923C>T NP_002652.2:p.His641= NC_000016.10:81910708:C:T p.(His641=) NC_000016.10:81910708:C:T p.(His641=) NC_000016.10:81910708:C:T Identity +NM_001305792.1:c.3471G>T NP_001292721.1:p.Val1157= NC_000001.11:200553390:C:A p.(Val1157=) NC_000001.11:200553390:C:A p.(Val1157=) NC_000001.11:200553390:C:A Identity +NM_001318031.2:c.1680C>T NP_001304960.1:p.Thr560= NC_000020.11:51784435:G:A p.(Thr560=) NC_000020.11:51784435:G:A p.(Thr560=) NC_000020.11:51784435:G:A Identity +NM_001248006.2:c.1140C>T NP_001234935.1:p.Asp380= NC_000011.10:6456585:G:A p.(Asp380=) NC_000011.10:6456585:G:A p.(Asp380=) NC_000011.10:6456585:G:A Identity +NM_001003811.2:c.207T>A NP_001003811.1:p.Ile69= NC_000023.11:70873304:A:T p.(Ile69=) NC_000023.11:70873304:A:T p.(Ile69=) NC_000023.11:70873304:A:T Identity +NM_001190818.2:c.354G>A NP_001177747.1:p.Pro118= NC_000001.11:52397732:C:T p.(Pro118=) NC_000001.11:52397732:C:T p.(Pro118=) NC_000001.11:52397732:C:T Identity +NM_145691.4:c.546C>T NP_663729.1:p.Pro182= NC_000017.11:18021814:G:A p.(Pro182=) NC_000017.11:18021814:G:A p.(Pro182=) NC_000017.11:18021814:G:A Identity +NM_001306089.2:c.1443G>T NP_001293018.1:p.Val481= NC_000018.10:76895037:G:T p.(Val481=) NC_000018.10:76895037:G:T p.(Val481=) NC_000018.10:76895037:G:T Identity +NM_015114.3:c.261C>G NP_055929.1:p.Ala87= NC_000012.12:132755053:G:C p.(Ala87=) NC_000012.12:132755053:G:C p.(Ala87=) NC_000012.12:132755053:G:C Identity +NM_000211.5:c.1755G>A NP_000202.3:p.Pro585= NC_000021.9:44889397:C:T p.(Pro585=) NC_000021.9:44889397:C:T p.(Pro585=) NC_000021.9:44889397:C:T Identity +NM_004621.6:c.2418A>G NP_004612.2:p.Glu806= NC_000011.10:101469492:T:C p.(Glu806=) NC_000011.10:101469492:T:C p.(Glu806=) NC_000011.10:101469492:T:C Identity +NM_001040059.2:c.468A>G NP_001035148.1:p.Thr156= NC_000017.11:7580308:A:G p.(Thr156=) NC_000017.11:7580308:A:G p.(Thr156=) NC_000017.11:7580308:A:G Identity +NM_001319839.2:c.1086G>A NP_001306768.1:p.Thr362= NC_000012.12:125118729:G:A p.(Thr362=) NC_000012.12:125118729:G:A p.(Thr362=) NC_000012.12:125118729:G:A Identity +NM_001350748.2:c.2316T>C NP_001337677.1:p.Phe772= NC_000013.11:101111189:A:G p.(Phe772=) NC_000013.11:101111189:A:G p.(Phe772=) NC_000013.11:101111189:A:G Identity +NM_001040458.3:c.2430T>C NP_001035548.1:p.Asn810= NC_000005.10:96781709:A:G p.(Asn810=) NC_000005.10:96781709:A:G p.(Asn810=) NC_000005.10:96781709:A:G Identity +NM_004958.4:c.3733T>C NP_004949.1:p.Leu1245= NC_000001.11:11209379:A:G p.(Leu1245=) NC_000001.11:11209379:A:G p.(Leu1245=) NC_000001.11:11209379:A:G Identity +NM_001077186.2:c.351C>T NP_001070654.1:p.Asn117= NC_000019.10:50210715:C:T p.(Asn117=) NC_000019.10:50210715:C:T p.(Asn117=) NC_000019.10:50210715:C:T Identity +NM_001081640.2:c.393T>C NP_001075109.1:p.Leu131= NC_000008.11:47955879:A:G p.(Leu131=) NC_000008.11:47955879:A:G p.(Leu131=) NC_000008.11:47955879:A:G Identity +NM_001364171.2:c.141G>A NP_001351100.1:p.Lys47= NC_000019.10:48318741:C:T p.(Lys47=) NC_000019.10:48318741:C:T p.(Lys47=) NC_000019.10:48318741:C:T Identity +NM_175875.5:c.1264C>T NP_787071.3:p.Leu422= NC_000019.10:45766694:G:A p.(Leu422=) NC_000019.10:45766694:G:A p.(Leu422=) NC_000019.10:45766694:G:A Identity +NM_002223.4:c.6966T>C NP_002214.2:p.Phe2322= NC_000012.12:26419192:A:G p.(Phe2322=) NC_000012.12:26419192:A:G p.(Phe2322=) NC_000012.12:26419192:A:G Identity +NM_019066.5:c.3474C>T NP_061939.3:p.Thr1158= NC_000015.10:23644268:G:A p.(Thr1158=) NC_000015.10:23644268:G:A p.(Thr1158=) NC_000015.10:23644268:G:A Identity +NM_001365819.1:c.207C>T NP_001352748.1:p.Val69= NC_000022.11:50467857:G:A p.(Val69=) NC_000022.11:50467857:G:A p.(Val69=) NC_000022.11:50467857:G:A Identity +NM_000845.3:c.2205G>A NP_000836.2:p.Lys735= NC_000007.14:126533176:C:T p.(Lys735=) NC_000007.14:126533176:C:T p.(Lys735=) NC_000007.14:126533176:C:T Identity +NM_003922.4:c.6396T>C NP_003913.3:p.Thr2132= NC_000015.10:63680605:A:G p.(Thr2132=) NC_000015.10:63680605:A:G p.(Thr2132=) NC_000015.10:63680605:A:G Identity +NM_001077186.2:c.3606G>A NP_001070654.1:p.Thr1202= NC_000019.10:50276780:G:A p.(Thr1202=) NC_000019.10:50276780:G:A p.(Thr1202=) NC_000019.10:50276780:G:A Identity +NM_020461.4:c.2505G>A NP_065194.3:p.Glu835= NC_000022.11:50221853:C:T p.(Glu835=) NC_000022.11:50221853:C:T p.(Glu835=) NC_000022.11:50221853:C:T Identity +NM_001303037.2:c.1107G>A NP_001289966.1:p.Thr369= NC_000007.14:24668652:G:A p.(Thr369=) NC_000007.14:24668652:G:A p.(Thr369=) NC_000007.14:24668652:G:A Identity +NM_020381.4:c.1002C>T NP_065114.3:p.Ile334= NC_000006.12:107210444:G:A p.(Ile334=) NC_000006.12:107210444:G:A p.(Ile334=) NC_000006.12:107210444:G:A Identity +NM_001306190.2:c.633G>A NP_001293119.1:p.Ala211= NC_000009.12:91220927:C:T p.(Ala211=) NC_000009.12:91220927:C:T p.(Ala211=) NC_000009.12:91220927:C:T Identity +NM_001127671.2:c.2886C>T NP_001121143.1:p.Ala962= NC_000005.10:38482002:G:A p.(Ala962=) NC_000005.10:38482002:G:A p.(Ala962=) NC_000005.10:38482002:G:A Identity +NM_014550.4:c.1308G>A NP_055365.2:p.Thr436= NC_000022.11:37506266:C:T p.(Thr436=) NC_000022.11:37506266:C:T p.(Thr436=) NC_000022.11:37506266:C:T Identity +NM_002224.4:c.4023G>A NP_002215.2:p.Ser1341= NC_000006.12:33679931:G:A p.(Ser1341=) NC_000006.12:33679931:G:A p.(Ser1341=) NC_000006.12:33679931:G:A Identity +NM_014014.5:c.5022C>T NP_054733.2:p.His1674= NC_000002.12:96281815:G:A p.(His1674=) NC_000002.12:96281815:G:A p.(His1674=) NC_000002.12:96281815:G:A Identity +NM_001347839.2:c.4497A>G NP_001334768.1:p.Leu1499= NC_000012.12:45852619:A:G p.(Leu1499=) NC_000012.12:45852619:A:G p.(Leu1499=) NC_000012.12:45852619:A:G Identity +NM_001174146.2:c.723G>T NP_001167617.1:p.Ser241= NC_000009.12:126693304:G:T p.(Ser241=) NC_000009.12:126693304:G:T p.(Ser241=) NC_000009.12:126693304:G:T Identity +NM_178857.6:c.354G>A NP_849188.4:p.Arg118= NC_000008.11:10622847:C:T p.(Arg118=) NC_000008.11:10622847:C:T p.(Arg118=) NC_000008.11:10622847:C:T Identity +NM_000593.6:c.690C>T NP_000584.3:p.Leu230= NC_000006.12:32852410:G:A p.(Leu230=) NC_000006.12:32852410:G:A p.(Leu230=) NC_000006.12:32852410:G:A Identity +NM_001256071.3:c.7302C>T NP_001243000.2:p.Ser2434= NC_000017.11:80345636:C:T p.(Ser2434=) NC_000017.11:80345636:C:T p.(Ser2434=) NC_000017.11:80345636:C:T Identity +NM_006462.6:c.729C>T NP_006453.1:p.Cys243= NC_000020.11:420968:C:T p.(Cys243=) NC_000020.11:420968:C:T p.(Cys243=) NC_000020.11:420968:C:T Identity +NM_001199579.2:c.948C>T NP_001186508.1:p.Ser316= NC_000022.11:38742483:G:A p.(Ser316=) NC_000022.11:38742483:G:A p.(Ser316=) NC_000022.11:38742483:G:A Identity +NM_001330660.2:c.1332C>T NP_001317589.1:p.Leu444= NC_000009.12:35740074:G:A p.(Leu444=) NC_000009.12:35740074:G:A p.(Leu444=) NC_000009.12:35740074:G:A Identity +NM_000540.3:c.12120C>T NP_000531.2:p.Ala4040= NC_000019.10:38548257:C:T p.(Ala4040=) NC_000019.10:38548257:C:T p.(Ala4040=) NC_000019.10:38548257:C:T Identity +NM_014602.3:c.3285C>T NP_055417.1:p.Asp1095= NC_000003.12:130686400:G:A p.(Asp1095=) NC_000003.12:130686400:G:A p.(Asp1095=) NC_000003.12:130686400:G:A Identity +NM_001330437.2:c.615A>G NP_001317366.1:p.Thr205= NC_000012.12:112454652:A:G p.(Thr205=) NC_000012.12:112454652:A:G p.(Thr205=) NC_000012.12:112454652:A:G Identity +NM_023037.3:c.8955G>A NP_075463.2:p.Glu2985= NC_000013.11:32295372:G:A p.(Glu2985=) NC_000013.11:32295372:G:A p.(Glu2985=) NC_000013.11:32295372:G:A Identity +NM_001304430.2:c.618T>G NP_001291359.1:p.Val206= NC_000013.11:94578115:A:C p.(Val206=) NC_000013.11:94578115:A:C p.(Val206=) NC_000013.11:94578115:A:C Identity +NM_001098540.3:c.480C>T NP_001092010.1:p.Phe160= NC_000004.12:83319362:G:A p.(Phe160=) NC_000004.12:83319362:G:A p.(Phe160=) NC_000004.12:83319362:G:A Identity +NM_001853.4:c.1506C>T NP_001844.3:p.Gly502= NC_000020.11:62836290:C:T p.(Gly502=) NC_000020.11:62836290:C:T p.(Gly502=) NC_000020.11:62836290:C:T Identity +NM_020719.3:c.4353G>A NP_065770.1:p.Pro1451= NC_000019.10:49601497:G:A p.(Pro1451=) NC_000019.10:49601497:G:A p.(Pro1451=) NC_000019.10:49601497:G:A Identity +NM_001318193.2:c.141G>A NP_001305122.2:p.Val47= NC_000016.10:2046340:C:T p.(Val47=) NC_000016.10:2046340:C:T p.(Val47=) NC_000016.10:2046340:C:T Identity +NM_001202233.2:c.810C>T NP_001189162.1:p.Ser270= NC_000012.12:52055098:C:T p.(Ser270=) NC_000012.12:52055098:C:T p.(Ser270=) NC_000012.12:52055098:C:T Identity +NM_001371986.1:c.3969A>G NP_001358915.1:p.Leu1323= NC_000002.12:209878081:A:G p.(Leu1323=) NC_000002.12:209878081:A:G p.(Leu1323=) NC_000002.12:209878081:A:G Identity +NM_000067.3:c.183C>T NP_000058.1:p.Asn61= NC_000008.11:85465419:C:T p.(Asn61=) NC_000008.11:85465419:C:T p.(Asn61=) NC_000008.11:85465419:C:T Identity +NM_001145795.2:c.429C>T NP_001139267.1:p.Thr143= NC_000016.10:28866522:C:T p.(Thr143=) NC_000016.10:28866522:C:T p.(Thr143=) NC_000016.10:28866522:C:T Identity +NM_001286414.3:c.1584T>G NP_001273343.1:p.Leu528= NC_000015.10:43400205:T:G p.(Leu528=) NC_000015.10:43400205:T:G p.(Leu528=) NC_000015.10:43400205:T:G Identity +NM_001093.4:c.2550C>T NP_001084.3:p.His850= NC_000012.12:109197075:C:T p.(His850=) NC_000012.12:109197075:C:T p.(His850=) NC_000012.12:109197075:C:T Identity +NM_001168325.2:c.414G>A NP_001161797.1:p.Ala138= NC_000012.12:117046582:C:T p.(Ala138=) NC_000012.12:117046582:C:T p.(Ala138=) NC_000012.12:117046582:C:T Identity +NM_001130010.3:c.180T>C NP_001123482.1:p.His60= NC_000015.10:36645254:T:C p.(His60=) NC_000015.10:36645254:T:C p.(His60=) NC_000015.10:36645254:T:C Identity +NM_175629.2:c.1074G>A NP_783328.1:p.Thr358= NC_000002.12:25247098:C:T p.(Thr358=) NC_000002.12:25247098:C:T p.(Thr358=) NC_000002.12:25247098:C:T Identity +NM_014252.4:c.846A>G NP_055067.1:p.Ala282= NC_000013.11:40809606:A:G p.(Ala282=) NC_000013.11:40809606:A:G p.(Ala282=) NC_000013.11:40809606:A:G Identity +NM_001635.4:c.780A>G NP_001626.1:p.Thr260= NC_000007.14:38463082:T:C p.(Thr260=) NC_000007.14:38463082:T:C p.(Thr260=) NC_000007.14:38463082:T:C Identity +NM_020719.3:c.5658C>T NP_065770.1:p.Asp1886= NC_000019.10:49621558:C:T p.(Asp1886=) NC_000019.10:49621558:C:T p.(Asp1886=) NC_000019.10:49621558:C:T Identity +NM_020693.4:c.3441C>G NP_065744.3:p.Thr1147= NC_000011.10:117458880:G:C p.(Thr1147=) NC_000011.10:117458880:G:C p.(Thr1147=) NC_000011.10:117458880:G:C Identity +NM_002238.4:c.1152G>A NP_002229.1:p.Lys384= NC_000001.11:210919868:C:T p.(Lys384=) NC_000001.11:210919868:C:T p.(Lys384=) NC_000001.11:210919868:C:T Identity +NM_020791.4:c.2496C>T NP_065842.1:p.Arg832= NC_000017.11:29534251:C:T p.(Arg832=) NC_000017.11:29534251:C:T p.(Arg832=) NC_000017.11:29534251:C:T Identity +NM_001141973.3:c.2628T>C NP_001135445.1:p.Asn876= NC_000001.11:16988440:A:G p.(Asn876=) NC_000001.11:16988440:A:G p.(Asn876=) NC_000001.11:16988440:A:G Identity +NM_000057.4:c.3252T>C NP_000048.1:p.Ile1084= NC_000015.10:90798230:T:C p.(Ile1084=) NC_000015.10:90798230:T:C p.(Ile1084=) NC_000015.10:90798230:T:C Identity +NM_001141973.3:c.24C>T NP_001135445.1:p.Leu8= NC_000001.11:17005764:G:A p.(Leu8=) NC_000001.11:17005764:G:A p.(Leu8=) NC_000001.11:17005764:G:A Identity +NM_001352773.2:c.2230C>T NP_001339702.1:p.Leu744= NC_000017.11:41755751:G:A p.(Leu744=) NC_000017.11:41755751:G:A p.(Leu744=) NC_000017.11:41755751:G:A Identity +NM_001363734.1:c.339C>T NP_001350663.1:p.Asn113= NC_000020.11:32428243:C:T p.(Asn113=) NC_000020.11:32428243:C:T p.(Asn113=) NC_000020.11:32428243:C:T Identity +NM_001348406.2:c.369C>T NP_001335335.1:p.Cys123= NC_000002.12:65016667:C:T p.(Cys123=) NC_000002.12:65016667:C:T p.(Cys123=) NC_000002.12:65016667:C:T Identity +NM_000287.4:c.483C>T NP_000278.3:p.Arg161= NC_000006.12:42978667:G:A p.(Arg161=) NC_000006.12:42978667:G:A p.(Arg161=) NC_000006.12:42978667:G:A Identity +NM_001198950.3:c.1827T>C NP_001185879.1:p.Pro609= NC_000013.11:108910051:T:C p.(Pro609=) NC_000013.11:108910051:T:C p.(Pro609=) NC_000013.11:108910051:T:C Identity +NM_013382.7:c.1659C>T NP_037514.2:p.Asn553= NC_000014.9:77280457:G:A p.(Asn553=) NC_000014.9:77280457:G:A p.(Asn553=) NC_000014.9:77280457:G:A Identity +NM_006231.4:c.2553G>A NP_006222.2:p.Glu851= NC_000012.12:132664377:C:T p.(Glu851=) NC_000012.12:132664377:C:T p.(Glu851=) NC_000012.12:132664377:C:T Identity +NM_002335.4:c.1221G>A NP_002326.2:p.Ala407= NC_000011.10:68386520:G:A p.(Ala407=) NC_000011.10:68386520:G:A p.(Ala407=) NC_000011.10:68386520:G:A Identity +NM_001243645.2:c.444A>G NP_001230574.1:p.Pro148= NC_000014.9:34712870:T:C p.(Pro148=) NC_000014.9:34712870:T:C p.(Pro148=) NC_000014.9:34712870:T:C Identity +NM_001458.5:c.5212C>T NP_001449.3:p.Leu1738= NC_000007.14:128849987:C:T p.(Leu1738=) NC_000007.14:128849987:C:T p.(Leu1738=) NC_000007.14:128849987:C:T Identity +NM_014804.3:c.840G>A NP_055619.2:p.Gln280= NC_000017.11:6623556:C:T p.(Gln280=) NC_000017.11:6623556:C:T p.(Gln280=) NC_000017.11:6623556:C:T Identity +NM_001199455.1:c.612G>A NP_001186384.1:p.Ala204= NC_000006.12:32976250:G:A p.(Ala204=) NC_000006.12:32976250:G:A p.(Ala204=) NC_000006.12:32976250:G:A Identity +NM_033071.5:c.13209A>G NP_149062.2:p.Arg4403= NC_000006.12:152331262:T:C p.(Arg4403=) NC_000006.12:152331262:T:C p.(Arg4403=) NC_000006.12:152331262:T:C Identity +NM_001127487.2:c.2967C>T NP_001120959.1:p.Asn989= NC_000007.14:128844040:C:T p.(Asn989=) NC_000007.14:128844040:C:T p.(Asn989=) NC_000007.14:128844040:C:T Identity +NM_005751.5:c.723A>G NP_005742.4:p.Gln241= NC_000007.14:91994766:A:G p.(Gln241=) NC_000007.14:91994766:A:G p.(Gln241=) NC_000007.14:91994766:A:G Identity +NM_006158.5:c.1578G>A NP_006149.2:p.Glu526= NC_000008.11:24952863:C:T p.(Glu526=) NC_000008.11:24952863:C:T p.(Glu526=) NC_000008.11:24952863:C:T Identity +NM_003900.5:c.57G>A NP_003891.1:p.Glu19= NC_000005.10:179820992:G:A p.(Glu19=) NC_000005.10:179820992:G:A p.(Glu19=) NC_000005.10:179820992:G:A Identity +NM_000474.4:c.141C>A NP_000465.1:p.Gly47= NC_000007.14:19117180:G:T p.(Gly47=) NC_000007.14:19117180:G:T p.(Gly47=) NC_000007.14:19117180:G:T Identity +NM_005559.4:c.6048G>A NP_005550.2:p.Thr2016= NC_000018.10:6978337:C:T p.(Thr2016=) NC_000018.10:6978337:C:T p.(Thr2016=) NC_000018.10:6978337:C:T Identity +NM_001172309.2:c.1209A>T NP_001165780.1:p.Ile403= NC_000001.11:77935971:A:T p.(Ile403=) NC_000001.11:77935971:A:T p.(Ile403=) NC_000001.11:77935971:A:T Identity +NM_001256850.1:c.21093G>A NP_001243779.1:p.Gly7031= NC_000002.12:178722854:C:T p.(Gly7031=) NC_000002.12:178722854:C:T p.(Gly7031=) NC_000002.12:178722854:C:T Identity +NM_001256850.1:c.91461T>C NP_001243779.1:p.Ile30487= NC_000002.12:178543588:A:G p.(Ile30487=) NC_000002.12:178543588:A:G p.(Ile30487=) NC_000002.12:178543588:A:G Identity +NM_001257374.3:c.486C>G NP_001244303.1:p.Ala162= NC_000001.11:156135197:C:G p.(Ala162=) NC_000001.11:156135197:C:G p.(Ala162=) NC_000001.11:156135197:C:G Identity +NM_020754.4:c.150C>T NP_065805.2:p.Ile50= NC_000003.12:119365364:C:T p.(Ile50=) NC_000003.12:119365364:C:T p.(Ile50=) NC_000003.12:119365364:C:T Identity +NM_000548.5:c.3231C>T NP_000539.2:p.Thr1077= NC_000016.10:2079374:C:T p.(Thr1077=) NC_000016.10:2079374:C:T p.(Thr1077=) NC_000016.10:2079374:C:T Identity +NM_001079874.2:c.699C>T NP_001073343.1:p.Ala233= NC_000001.11:107574169:G:A p.(Ala233=) NC_000001.11:107574169:G:A p.(Ala233=) NC_000001.11:107574169:G:A Identity +NM_001290020.2:c.2274T>A NP_001276949.1:p.Ile758= NC_000010.11:27935230:A:T p.(Ile758=) NC_000010.11:27935230:A:T p.(Ile758=) NC_000010.11:27935230:A:T Identity +NM_001006657.2:c.1338A>G NP_001006658.1:p.Lys446= NC_000002.12:19953928:T:C p.(Lys446=) NC_000002.12:19953928:T:C p.(Lys446=) NC_000002.12:19953928:T:C Identity +NM_001018071.4:c.963G>A NP_001018081.4:p.Pro321= NC_000010.11:48236511:C:T p.(Pro321=) NC_000010.11:48236511:C:T p.(Pro321=) NC_000010.11:48236511:C:T Identity +NM_001077494.3:c.1620G>A NP_001070962.1:p.Thr540= NC_000010.11:102400312:G:A p.(Thr540=) NC_000010.11:102400312:G:A p.(Thr540=) NC_000010.11:102400312:G:A Identity +NM_003098.3:c.972C>T NP_003089.1:p.Tyr324= NC_000020.11:33412363:G:A p.(Tyr324=) NC_000020.11:33412363:G:A p.(Tyr324=) NC_000020.11:33412363:G:A Identity +NM_019074.4:c.534C>T NP_061947.1:p.Asn178= NC_000015.10:40931641:C:T p.(Asn178=) NC_000015.10:40931641:C:T p.(Asn178=) NC_000015.10:40931641:C:T Identity +NM_001282640.2:c.2040T>C NP_001269569.1:p.Tyr680= NC_000009.12:112058496:A:G p.(Tyr680=) NC_000009.12:112058496:A:G p.(Tyr680=) NC_000009.12:112058496:A:G Identity +NM_206933.4:c.6801G>A NP_996816.3:p.Pro2267= NC_000001.11:215993023:C:T p.(Pro2267=) NC_000001.11:215993023:C:T p.(Pro2267=) NC_000001.11:215993023:C:T Identity +NM_001350748.2:c.4194T>C NP_001337677.1:p.His1398= NC_000013.11:101073673:A:G p.(His1398=) NC_000013.11:101073673:A:G p.(His1398=) NC_000013.11:101073673:A:G Identity +NM_001273.5:c.2734T>C NP_001264.2:p.Leu912= NC_000012.12:6592735:A:G p.(Leu912=) NC_000012.12:6592735:A:G p.(Leu912=) NC_000012.12:6592735:A:G Identity +NM_001114331.3:c.1935C>T NP_001107803.1:p.Asp645= NC_000016.10:1448360:G:A p.(Asp645=) NC_000016.10:1448360:G:A p.(Asp645=) NC_000016.10:1448360:G:A Identity +NM_015409.5:c.6165C>G NP_056224.3:p.Val2055= NC_000012.12:132038053:C:G p.(Val2055=) NC_000012.12:132038053:C:G p.(Val2055=) NC_000012.12:132038053:C:G Identity +NM_001018088.3:c.9171G>A NP_001018098.1:p.Gly3057= NC_000015.10:61890334:C:T p.(Gly3057=) NC_000015.10:61890334:C:T p.(Gly3057=) NC_000015.10:61890334:C:T Identity +NM_001160227.2:c.4746T>G NP_001153699.1:p.Leu1582= NC_000015.10:44589411:A:C p.(Leu1582=) NC_000015.10:44589411:A:C p.(Leu1582=) NC_000015.10:44589411:A:C Identity +NM_000627.4:c.3252T>C NP_000618.4:p.Ala1084= NC_000002.12:33361474:T:C p.(Ala1084=) NC_000002.12:33361474:T:C p.(Ala1084=) NC_000002.12:33361474:T:C Identity +NM_001079520.2:c.624C>G NP_001072988.1:p.Pro208= NC_000014.9:58641736:C:G p.(Pro208=) NC_000014.9:58641736:C:G p.(Pro208=) NC_000014.9:58641736:C:G Identity +NM_139057.4:c.2022C>T NP_620688.2:p.Ile674= NC_000015.10:100096470:G:A p.(Ile674=) NC_000015.10:100096470:G:A p.(Ile674=) NC_000015.10:100096470:G:A Identity +NM_016148.5:c.6438C>T NP_057232.2:p.Gly2146= NC_000019.10:50662012:G:A p.(Gly2146=) NC_000019.10:50662012:G:A p.(Gly2146=) NC_000019.10:50662012:G:A Identity +NM_001081640.2:c.5550G>T NP_001075109.1:p.Val1850= NC_000008.11:47864576:C:A p.(Val1850=) NC_000008.11:47864576:C:A p.(Val1850=) NC_000008.11:47864576:C:A Identity +NM_001005463.3:c.151C>A NP_001005463.1:p.Arg51= NC_000010.11:129963506:G:T p.(Arg51=) NC_000010.11:129963506:G:T p.(Arg51=) NC_000010.11:129963506:G:T Identity +NM_001367225.1:c.687C>T NP_001354154.1:p.Thr229= NC_000016.10:87891885:G:A p.(Thr229=) NC_000016.10:87891885:G:A p.(Thr229=) NC_000016.10:87891885:G:A Identity +NM_001142800.2:c.3126C>T NP_001136272.1:p.Asn1042= NC_000006.12:64822688:G:A p.(Asn1042=) NC_000006.12:64822688:G:A p.(Asn1042=) NC_000006.12:64822688:G:A Identity +NM_002855.5:c.561T>A NP_002846.3:p.Thr187= NC_000011.10:119677726:A:T p.(Thr187=) NC_000011.10:119677726:A:T p.(Thr187=) NC_000011.10:119677726:A:T Identity +NM_002653.5:c.75T>C NP_002644.4:p.His25= NC_000005.10:135033806:A:G p.(His25=) NC_000005.10:135033806:A:G p.(His25=) NC_000005.10:135033806:A:G Identity +NM_001350234.2:c.645G>T NP_001337163.1:p.Ala215= NC_000001.11:9716483:G:T p.(Ala215=) NC_000001.11:9716483:G:T p.(Ala215=) NC_000001.11:9716483:G:T Identity +NM_001384900.1:c.1611T>C NP_001371829.1:p.Tyr537= NC_000007.14:85015150:A:G p.(Tyr537=) NC_000007.14:85015150:A:G p.(Tyr537=) NC_000007.14:85015150:A:G Identity +NM_001144769.5:c.3258C>T NP_001138241.1:p.Asp1086= NC_000006.12:56634598:G:A p.(Asp1086=) NC_000006.12:56634598:G:A p.(Asp1086=) NC_000006.12:56634598:G:A Identity +NM_001160302.2:c.3357C>T NP_001153774.1:p.Arg1119= NC_000021.9:32645679:G:A p.(Arg1119=) NC_000021.9:32645679:G:A p.(Arg1119=) NC_000021.9:32645679:G:A Identity +NM_000572.3:c.345C>T NP_000563.1:p.Asn115= NC_000001.11:206770939:G:A p.(Asn115=) NC_000001.11:206770939:G:A p.(Asn115=) NC_000001.11:206770939:G:A Identity +NM_001242309.1:c.1365A>G NP_001229238.1:p.Glu455= NC_000010.11:3156950:T:C p.(Glu455=) NC_000010.11:3156950:T:C p.(Glu455=) NC_000010.11:3156950:T:C Identity +NM_001024956.3:c.873C>T NP_001020127.1:p.Phe291= NC_000011.10:121307484:C:T p.(Phe291=) NC_000011.10:121307484:C:T p.(Phe291=) NC_000011.10:121307484:C:T Identity +NM_015205.3:c.2559C>T NP_056020.2:p.Asn853= NC_000013.11:112858181:C:T p.(Asn853=) NC_000013.11:112858181:C:T p.(Asn853=) NC_000013.11:112858181:C:T Identity +NM_001308007.2:c.441T>C NP_001294936.1:p.Phe147= NC_000011.10:86256400:T:C p.(Phe147=) NC_000011.10:86256400:T:C p.(Phe147=) NC_000011.10:86256400:T:C Identity +NM_001318186.2:c.1164A>G NP_001305115.1:p.Gln388= NC_000009.12:83970286:T:C p.(Gln388=) NC_000009.12:83970286:T:C p.(Gln388=) NC_000009.12:83970286:T:C Identity +NM_001347839.2:c.1374C>T NP_001334768.1:p.Gly458= NC_000012.12:45839371:C:T p.(Gly458=) NC_000012.12:45839371:C:T p.(Gly458=) NC_000012.12:45839371:C:T Identity +NM_000339.3:c.1269T>C NP_000330.3:p.Tyr423= NC_000016.10:56879160:T:C p.(Tyr423=) NC_000016.10:56879160:T:C p.(Tyr423=) NC_000016.10:56879160:T:C Identity +NM_020436.5:c.1752T>C NP_065169.1:p.His584= NC_000020.11:51790730:A:G p.(His584=) NC_000020.11:51790730:A:G p.(His584=) NC_000020.11:51790730:A:G Identity +NM_001010898.4:c.81C>G NP_001010898.1:p.Leu27= NC_000001.11:110167009:C:G p.(Leu27=) NC_000001.11:110167009:C:G p.(Leu27=) NC_000001.11:110167009:C:G Identity +NM_001300780.2:c.270T>C NP_001287709.1:p.Tyr90= NC_000005.10:116497335:A:G p.(Tyr90=) NC_000005.10:116497335:A:G p.(Tyr90=) NC_000005.10:116497335:A:G Identity +NM_001031847.3:c.753C>T NP_001027017.1:p.Asn251= NC_000011.10:68796873:G:A p.(Asn251=) NC_000011.10:68796873:G:A p.(Asn251=) NC_000011.10:68796873:G:A Identity +NM_001136049.3:c.1044T>C NP_001129521.3:p.Phe348= NC_000003.12:197996194:T:C p.(Phe348=) NC_000003.12:197996194:T:C p.(Phe348=) NC_000003.12:197996194:T:C Identity +NM_024642.5:c.1395T>C NP_078918.3:p.Asp465= NC_000009.12:98844145:T:C p.(Asp465=) NC_000009.12:98844145:T:C p.(Asp465=) NC_000009.12:98844145:T:C Identity +NM_001127671.2:c.2010C>T NP_001121143.1:p.Cys670= NC_000005.10:38493660:G:A p.(Cys670=) NC_000005.10:38493660:G:A p.(Cys670=) NC_000005.10:38493660:G:A Identity +NM_001256850.1:c.1221G>A NP_001243779.1:p.Glu407= NC_000002.12:178794945:C:T p.(Glu407=) NC_000002.12:178794945:C:T p.(Glu407=) NC_000002.12:178794945:C:T Identity +NM_000445.5:c.8358G>A NP_000436.2:p.Val2786= NC_000008.11:143921543:C:T p.(Val2786=) NC_000008.11:143921543:C:T p.(Val2786=) NC_000008.11:143921543:C:T Identity +NM_001183.6:c.1011G>A NP_001174.2:p.Arg337= NC_000023.11:154435312:G:A p.(Arg337=) NC_000023.11:154435312:G:A p.(Arg337=) NC_000023.11:154435312:G:A Identity +NM_001271769.2:c.2025G>A NP_001258698.1:p.Gln675= NC_000005.10:78113828:C:T p.(Gln675=) NC_000005.10:78113828:C:T p.(Gln675=) NC_000005.10:78113828:C:T Identity +NM_024852.4:c.429G>C NP_079128.2:p.Arg143= NC_000001.11:35972139:G:C p.(Arg143=) NC_000001.11:35972139:G:C p.(Arg143=) NC_000001.11:35972139:G:C Identity +NM_001243313.2:c.2613C>T NP_001230242.1:p.Pro871= NC_000002.12:218697127:C:T p.(Pro871=) NC_000002.12:218697127:C:T p.(Pro871=) NC_000002.12:218697127:C:T Identity +NM_001321924.2:c.699C>T NP_001308853.1:p.His233= NC_000015.10:64424060:C:T p.(His233=) NC_000015.10:64424060:C:T p.(His233=) NC_000015.10:64424060:C:T Identity +NM_013258.5:c.342T>C NP_037390.2:p.Phe114= NC_000016.10:31201830:A:G p.(Phe114=) NC_000016.10:31201830:A:G p.(Phe114=) NC_000016.10:31201830:A:G Identity +NM_001130964.2:c.1713C>T NP_001124436.1:p.Ile571= NC_000003.12:38009114:G:A p.(Ile571=) NC_000003.12:38009114:G:A p.(Ile571=) NC_000003.12:38009114:G:A Identity +NM_000094.4:c.2188T>C NP_000085.1:p.Leu730= NC_000003.12:48589452:A:G p.(Leu730=) NC_000003.12:48589452:A:G p.(Leu730=) NC_000003.12:48589452:A:G Identity +NM_001367830.1:c.5499C>T NP_001354759.1:p.Val1833= NC_000019.10:11202450:G:A p.(Val1833=) NC_000019.10:11202450:G:A p.(Val1833=) NC_000019.10:11202450:G:A Identity +NM_001283009.2:c.3357T>C NP_001269938.1:p.Phe1119= NC_000020.11:63695078:T:C p.(Phe1119=) NC_000020.11:63695078:T:C p.(Phe1119=) NC_000020.11:63695078:T:C Identity +NM_001007097.3:c.1200T>C NP_001007098.1:p.Tyr400= NC_000009.12:84744976:T:C p.(Tyr400=) NC_000009.12:84744976:T:C p.(Tyr400=) NC_000009.12:84744976:T:C Identity +NM_014254.3:c.90G>T NP_055069.1:p.Gly30= NC_000012.12:63780049:G:T p.(Gly30=) NC_000012.12:63780049:G:T p.(Gly30=) NC_000012.12:63780049:G:T Identity +NM_024110.4:c.1827G>A NP_077015.2:p.Leu609= NC_000017.11:80198566:G:A p.(Leu609=) NC_000017.11:80198566:G:A p.(Leu609=) NC_000017.11:80198566:G:A Identity +NM_001282444.2:c.1302C>T NP_001269373.1:p.Ile434= NC_000011.10:64854635:G:A p.(Ile434=) NC_000011.10:64854635:G:A p.(Ile434=) NC_000011.10:64854635:G:A Identity +NM_001164317.2:c.1020G>A NP_001157789.1:p.Lys340= NC_000003.12:58097849:G:A p.(Lys340=) NC_000003.12:58097849:G:A p.(Lys340=) NC_000003.12:58097849:G:A Identity +NM_001286838.1:c.2046C>A NP_001273767.1:p.Gly682= NC_000004.12:93626405:C:A p.(Gly682=) NC_000004.12:93626405:C:A p.(Gly682=) NC_000004.12:93626405:C:A Identity +NM_000018.4:c.981G>C NP_000009.1:p.Gly327= NC_000017.11:7222768:G:C p.(Gly327=) NC_000017.11:7222768:G:C p.(Gly327=) NC_000017.11:7222768:G:C Identity +NM_000191.3:c.564C>G NP_000182.2:p.Val188= NC_000001.11:23808320:G:C p.(Val188=) NC_000001.11:23808320:G:C p.(Val188=) NC_000001.11:23808320:G:C Identity +NM_001164317.2:c.7887T>C NP_001157789.1:p.His2629= NC_000003.12:58170746:T:C p.(His2629=) NC_000003.12:58170746:T:C p.(His2629=) NC_000003.12:58170746:T:C Identity +NM_001277742.2:c.873G>A NP_001264671.1:p.Thr291= NC_000002.12:72133070:C:T p.(Thr291=) NC_000002.12:72133070:C:T p.(Thr291=) NC_000002.12:72133070:C:T Identity +NM_001164507.2:c.21765C>T NP_001157979.2:p.Asn7255= NC_000002.12:151527555:G:A p.(Asn7255=) NC_000002.12:151527555:G:A p.(Asn7255=) NC_000002.12:151527555:G:A Identity +NM_001166136.2:c.2775G>A NP_001159608.1:p.Leu925= NC_000004.12:5584664:C:T p.(Leu925=) NC_000004.12:5584664:C:T p.(Leu925=) NC_000004.12:5584664:C:T Identity +NM_001368395.3:c.1839G>A NP_001355324.1:p.Lys613= NC_000023.11:12716186:G:A p.(Lys613=) NC_000023.11:12716186:G:A p.(Lys613=) NC_000023.11:12716186:G:A Identity +NM_002081.3:c.1422C>T NP_002072.2:p.Asn474= NC_000002.12:240465625:C:T p.(Asn474=) NC_000002.12:240465625:C:T p.(Asn474=) NC_000002.12:240465625:C:T Identity +NM_001378183.1:c.3775C>T NP_001365112.1:p.Leu1259= NC_000018.10:10758116:G:A p.(Leu1259=) NC_000018.10:10758116:G:A p.(Leu1259=) NC_000018.10:10758116:G:A Identity +NM_000302.4:c.759G>C NP_000293.2:p.Leu253= NC_000001.11:11957858:G:C p.(Leu253=) NC_000001.11:11957858:G:C p.(Leu253=) NC_000001.11:11957858:G:C Identity +NM_021076.4:c.702C>T NP_066554.2:p.His234= NC_000022.11:29480963:C:T p.(His234=) NC_000022.11:29480963:C:T p.(His234=) NC_000022.11:29480963:C:T Identity +NM_001166136.2:c.2889C>T NP_001159608.1:p.Ala963= NC_000004.12:5576382:G:A p.(Ala963=) NC_000004.12:5576382:G:A p.(Ala963=) NC_000004.12:5576382:G:A Identity +NM_001283009.2:c.147G>A NP_001269938.1:p.Thr49= NC_000020.11:63661341:G:A p.(Thr49=) NC_000020.11:63661341:G:A p.(Thr49=) NC_000020.11:63661341:G:A Identity +NM_015015.3:c.2820C>T NP_055830.1:p.Ile940= NC_000019.10:5144330:C:T p.(Ile940=) NC_000019.10:5144330:C:T p.(Ile940=) NC_000019.10:5144330:C:T Identity +NM_000302.4:c.1554C>T NP_000293.2:p.Asn518= NC_000001.11:11965562:C:T p.(Asn518=) NC_000001.11:11965562:C:T p.(Asn518=) NC_000001.11:11965562:C:T Identity +NM_001286734.2:c.1047A>G NP_001273663.1:p.Arg349= NC_000004.12:103181372:T:C p.(Arg349=) NC_000004.12:103181372:T:C p.(Arg349=) NC_000004.12:103181372:T:C Identity +NM_000338.3:c.1338T>C NP_000329.2:p.Asn446= NC_000015.10:48244789:T:C p.(Asn446=) NC_000015.10:48244789:T:C p.(Asn446=) NC_000015.10:48244789:T:C Identity +NM_000310.4:c.840A>G NP_000301.1:p.Leu280= NC_000001.11:40074141:T:C p.(Leu280=) NC_000001.11:40074141:T:C p.(Leu280=) NC_000001.11:40074141:T:C Identity +NM_001005407.2:c.6750C>T NP_001005407.1:p.Cys2250= NC_000016.10:1220699:C:T p.(Cys2250=) NC_000016.10:1220699:C:T p.(Cys2250=) NC_000016.10:1220699:C:T Identity +NM_001127217.3:c.1191A>G NP_001120689.1:p.Ser397= NC_000013.11:36853487:T:C p.(Ser397=) NC_000013.11:36853487:T:C p.(Ser397=) NC_000013.11:36853487:T:C Identity +NM_001374299.1:c.1002G>T NP_001361228.1:p.Arg334= NC_000009.12:92271643:C:A p.(Arg334=) NC_000009.12:92271643:C:A p.(Arg334=) NC_000009.12:92271643:C:A Identity +NM_023946.5:c.360C>T NP_076435.1:p.Ile120= NC_000008.11:142764640:G:A p.(Ile120=) NC_000008.11:142764640:G:A p.(Ile120=) NC_000008.11:142764640:G:A Identity +NM_001256850.1:c.66597G>A NP_001243779.1:p.Lys22199= NC_000002.12:178574611:C:T p.(Lys22199=) NC_000002.12:178574611:C:T p.(Lys22199=) NC_000002.12:178574611:C:T Identity +NM_001128844.3:c.2443C>T NP_001122316.1:p.Leu815= NC_000019.10:11018960:C:T p.(Leu815=) NC_000019.10:11018960:C:T p.(Leu815=) NC_000019.10:11018960:C:T Identity +NM_000444.6:c.750C>T NP_000435.3:p.Tyr250= NC_000023.11:22093999:C:T p.(Tyr250=) NC_000023.11:22093999:C:T p.(Tyr250=) NC_000023.11:22093999:C:T Identity +NM_015103.3:c.1833T>C NP_055918.3:p.Asp611= NC_000003.12:129585969:A:G p.(Asp611=) NC_000003.12:129585969:A:G p.(Asp611=) NC_000003.12:129585969:A:G Identity +NM_001252197.1:c.774C>T NP_001239126.1:p.Gly258= NC_000016.10:54933197:C:T p.(Gly258=) NC_000016.10:54933197:C:T p.(Gly258=) NC_000016.10:54933197:C:T Identity +NM_014008.5:c.1044T>C NP_054727.1:p.Ile348= NC_000023.11:49247719:T:C p.(Ile348=) NC_000023.11:49247719:T:C p.(Ile348=) NC_000023.11:49247719:T:C Identity +NM_001367498.1:c.3900G>A NP_001354427.1:p.Glu1300= NC_000002.12:124914263:G:A p.(Glu1300=) NC_000002.12:124914263:G:A p.(Glu1300=) NC_000002.12:124914263:G:A Identity +NM_001042780.3:c.339G>A NP_001036245.1:p.Leu113= NC_000011.10:1934004:G:A p.(Leu113=) NC_000011.10:1934004:G:A p.(Leu113=) NC_000011.10:1934004:G:A Identity +NM_001308258.2:c.1686C>T NP_001295187.1:p.Thr562= NC_000003.12:149162221:C:T p.(Thr562=) NC_000003.12:149162221:C:T p.(Thr562=) NC_000003.12:149162221:C:T Identity +NM_001080424.2:c.522G>A NP_001073893.1:p.Glu174= NC_000017.11:7846464:G:A p.(Glu174=) NC_000017.11:7846464:G:A p.(Glu174=) NC_000017.11:7846464:G:A Identity +NM_014014.5:c.5652C>T NP_054733.2:p.Phe1884= NC_000002.12:96277908:G:A p.(Phe1884=) NC_000002.12:96277908:G:A p.(Phe1884=) NC_000002.12:96277908:G:A Identity +NM_001142685.2:c.3048C>T NP_001136157.1:p.Asp1016= NC_000011.10:128973415:G:A p.(Asp1016=) NC_000011.10:128973415:G:A p.(Asp1016=) NC_000011.10:128973415:G:A Identity +NM_001349370.3:c.5295T>C NP_001336299.1:p.Ile1765= NC_000003.12:47084352:A:G p.(Ile1765=) NC_000003.12:47084352:A:G p.(Ile1765=) NC_000003.12:47084352:A:G Identity +NM_006371.5:c.216G>A NP_006362.1:p.Arg72= NC_000003.12:33114292:G:A p.(Arg72=) NC_000003.12:33114292:G:A p.(Arg72=) NC_000003.12:33114292:G:A Identity +NM_001350234.2:c.24C>A NP_001337163.1:p.Pro8= NC_000001.11:9710478:C:A p.(Pro8=) NC_000001.11:9710478:C:A p.(Pro8=) NC_000001.11:9710478:C:A Identity +NM_001369512.1:c.1116T>C NP_001356441.1:p.Ser372= NC_000017.11:42329769:A:G p.(Ser372=) NC_000017.11:42329769:A:G p.(Ser372=) NC_000017.11:42329769:A:G Identity +NM_000371.4:c.9T>C NP_000362.1:p.Ser3= NC_000018.10:31591910:T:C p.(Ser3=) NC_000018.10:31591910:T:C p.(Ser3=) NC_000018.10:31591910:T:C Identity +NM_001166693.3:c.1278G>A NP_001160165.1:p.Thr426= NC_000004.12:87094963:G:A p.(Thr426=) NC_000004.12:87094963:G:A p.(Thr426=) NC_000004.12:87094963:G:A Identity +NM_004621.6:c.75C>T NP_004612.2:p.Arg25= NC_000011.10:101583428:G:A p.(Arg25=) NC_000011.10:101583428:G:A p.(Arg25=) NC_000011.10:101583428:G:A Identity +NM_001350626.2:c.2220C>T NP_001337555.1:p.Pro740= NC_000007.14:2538494:G:A p.(Pro740=) NC_000007.14:2538494:G:A p.(Pro740=) NC_000007.14:2538494:G:A Identity +NM_000187.4:c.477G>A NP_000178.2:p.Gln159= NC_000003.12:120647044:C:T p.(Gln159=) NC_000003.12:120647044:C:T p.(Gln159=) NC_000003.12:120647044:C:T Identity +NM_002566.5:c.258C>T NP_002557.2:p.Ala86= NC_000019.10:10113870:C:T p.(Ala86=) NC_000019.10:10113870:C:T p.(Ala86=) NC_000019.10:10113870:C:T Identity +NM_000251.3:c.1524C>G NP_000242.1:p.Gly508= NC_000002.12:47466670:C:G p.(Gly508=) NC_000002.12:47466670:C:G p.(Gly508=) NC_000002.12:47466670:C:G Identity +NM_001206999.2:c.2007C>T NP_001193928.1:p.Ala669= NC_000012.12:119772844:G:A p.(Ala669=) NC_000012.12:119772844:G:A p.(Ala669=) NC_000012.12:119772844:G:A Identity +NM_004501.3:c.46C>T NP_004492.2:p.Leu16= NC_000001.11:244864261:G:A p.(Leu16=) NC_000001.11:244864261:G:A p.(Leu16=) NC_000001.11:244864261:G:A Identity +NM_000038.6:c.2895T>C NP_000029.2:p.Asn965= NC_000005.10:112838488:T:C p.(Asn965=) NC_000005.10:112838488:T:C p.(Asn965=) NC_000005.10:112838488:T:C Identity +NM_000334.4:c.5472G>A NP_000325.4:p.Gly1824= NC_000017.11:63940809:C:T p.(Gly1824=) NC_000017.11:63940809:C:T p.(Gly1824=) NC_000017.11:63940809:C:T Identity +NM_001080453.3:c.3432G>A NP_001073922.2:p.Ser1144= NC_000007.14:1483850:C:T p.(Ser1144=) NC_000007.14:1483850:C:T p.(Ser1144=) NC_000007.14:1483850:C:T Identity +NM_000687.4:c.831C>G NP_000678.1:p.Gly277= NC_000020.11:34290573:G:C p.(Gly277=) NC_000020.11:34290573:G:C p.(Gly277=) NC_000020.11:34290573:G:C Identity +NM_005458.8:c.2127C>T NP_005449.5:p.Val709= NC_000009.12:98306222:G:A p.(Val709=) NC_000009.12:98306222:G:A p.(Val709=) NC_000009.12:98306222:G:A Identity +NM_001283009.2:c.462G>A NP_001269938.1:p.Glu154= NC_000020.11:63662611:G:A p.(Glu154=) NC_000020.11:63662611:G:A p.(Glu154=) NC_000020.11:63662611:G:A Identity +NM_001270399.2:c.324C>T NP_001257328.1:p.Tyr108= NC_000012.12:49186360:G:A p.(Tyr108=) NC_000012.12:49186360:G:A p.(Tyr108=) NC_000012.12:49186360:G:A Identity +NM_001135659.3:c.3555C>T NP_001129131.1:p.Pro1185= NC_000002.12:50236899:G:A p.(Pro1185=) NC_000002.12:50236899:G:A p.(Pro1185=) NC_000002.12:50236899:G:A Identity +NM_001244580.2:c.7503C>T NP_001231509.1:p.Ala2501= NC_000007.14:98970122:C:T p.(Ala2501=) NC_000007.14:98970122:C:T p.(Ala2501=) NC_000007.14:98970122:C:T Identity +NM_000183.3:c.426C>T NP_000174.1:p.Asn142= NC_000002.12:26277143:C:T p.(Asn142=) NC_000002.12:26277143:C:T p.(Asn142=) NC_000002.12:26277143:C:T Identity +NM_005932.4:c.555G>A NP_005923.3:p.Leu185= NC_000013.11:23874893:C:T p.(Leu185=) NC_000013.11:23874893:C:T p.(Leu185=) NC_000013.11:23874893:C:T Identity +NM_001164507.2:c.10977T>C NP_001157979.2:p.Asp3659= NC_000002.12:151618373:A:G p.(Asp3659=) NC_000002.12:151618373:A:G p.(Asp3659=) NC_000002.12:151618373:A:G Identity +NM_001243645.2:c.367T>C NP_001230574.1:p.Leu123= NC_000014.9:34712947:A:G p.(Leu123=) NC_000014.9:34712947:A:G p.(Leu123=) NC_000014.9:34712947:A:G Identity +NM_000228.3:c.2202C>T NP_000219.2:p.Asp734= NC_000001.11:209623660:G:A p.(Asp734=) NC_000001.11:209623660:G:A p.(Asp734=) NC_000001.11:209623660:G:A Identity +NM_001365536.1:c.600T>C NP_001352465.1:p.Tyr200= NC_000002.12:166304325:A:G p.(Tyr200=) NC_000002.12:166304325:A:G p.(Tyr200=) NC_000002.12:166304325:A:G Identity +NM_001010942.3:c.351G>A NP_001010942.1:p.Lys117= NC_000012.12:68656331:G:A p.(Lys117=) NC_000012.12:68656331:G:A p.(Lys117=) NC_000012.12:68656331:G:A Identity +NM_014918.5:c.42C>T NP_055733.2:p.Leu14= NC_000015.10:101251414:G:A p.(Leu14=) NC_000015.10:101251414:G:A p.(Leu14=) NC_000015.10:101251414:G:A Identity +NM_001271022.2:c.1782G>A NP_001257951.1:p.Arg594= NC_000003.12:48464937:G:A p.(Arg594=) NC_000003.12:48464937:G:A p.(Arg594=) NC_000003.12:48464937:G:A Identity +NM_001135195.1:c.507C>G NP_001128667.1:p.Gly169= NC_000012.12:56234858:C:G p.(Gly169=) NC_000012.12:56234858:C:G p.(Gly169=) NC_000012.12:56234858:C:G Identity +NM_001167614.2:c.2718T>C NP_001161086.1:p.Ser906= NC_000012.12:65246309:T:C p.(Ser906=) NC_000012.12:65246309:T:C p.(Ser906=) NC_000012.12:65246309:T:C Identity +NM_002472.3:c.1380C>T NP_002463.2:p.Ile460= NC_000017.11:10412405:G:A p.(Ile460=) NC_000017.11:10412405:G:A p.(Ile460=) NC_000017.11:10412405:G:A Identity +NM_000037.4:c.1725G>A NP_000028.3:p.Val575= NC_000008.11:41714230:C:T p.(Val575=) NC_000008.11:41714230:C:T p.(Val575=) NC_000008.11:41714230:C:T Identity +NM_001256063.2:c.1365T>G NP_001242992.1:p.Leu455= NC_000012.12:40939470:T:G p.(Leu455=) NC_000012.12:40939470:T:G p.(Leu455=) NC_000012.12:40939470:T:G Identity +NM_001164507.2:c.363A>G NP_001157979.2:p.Glu121= NC_000002.12:151725491:T:C p.(Glu121=) NC_000002.12:151725491:T:C p.(Glu121=) NC_000002.12:151725491:T:C Identity +NM_001164507.2:c.5841A>G NP_001157979.2:p.Lys1947= NC_000002.12:151662263:T:C p.(Lys1947=) NC_000002.12:151662263:T:C p.(Lys1947=) NC_000002.12:151662263:T:C Identity +NM_000016.6:c.33C>T NP_000007.1:p.Val11= NC_000001.11:75728402:C:T p.(Val11=) NC_000001.11:75728402:C:T p.(Val11=) NC_000001.11:75728402:C:T Identity +NM_001350234.2:c.1722C>T NP_001337163.1:p.Pro574= NC_000001.11:9721161:C:T p.(Pro574=) NC_000001.11:9721161:C:T p.(Pro574=) NC_000001.11:9721161:C:T Identity +NM_001365999.1:c.1425T>C NP_001352928.1:p.Cys475= NC_000001.11:43420911:T:C p.(Cys475=) NC_000001.11:43420911:T:C p.(Cys475=) NC_000001.11:43420911:T:C Identity +NM_000264.5:c.1275G>C NP_000255.2:p.Thr425= NC_000009.12:95478126:C:G p.(Thr425=) NC_000009.12:95478126:C:G p.(Thr425=) NC_000009.12:95478126:C:G Identity +NM_014241.4:c.252C>T NP_055056.3:p.Thr84= NC_000010.11:17617087:G:A p.(Thr84=) NC_000010.11:17617087:G:A p.(Thr84=) NC_000010.11:17617087:G:A Identity +NM_000033.4:c.357C>T NP_000024.2:p.Ala119= NC_000023.11:153725622:C:T p.(Ala119=) NC_000023.11:153725622:C:T p.(Ala119=) NC_000023.11:153725622:C:T Identity +NM_001142800.2:c.7284A>C NP_001136272.1:p.Ser2428= NC_000006.12:63806316:T:G p.(Ser2428=) NC_000006.12:63806316:T:G p.(Ser2428=) NC_000006.12:63806316:T:G Identity +NM_000919.4:c.1152G>T NP_000910.2:p.Val384= NC_000005.10:102961218:G:T p.(Val384=) NC_000005.10:102961218:G:T p.(Val384=) NC_000005.10:102961218:G:T Identity +NM_001163673.2:c.1638C>T NP_001157145.1:p.Pro546= NC_000017.11:1735638:C:T p.(Pro546=) NC_000017.11:1735638:C:T p.(Pro546=) NC_000017.11:1735638:C:T Identity +NM_001130823.3:c.4590T>C NP_001124295.1:p.Tyr1530= NC_000019.10:10136186:A:G p.(Tyr1530=) NC_000019.10:10136186:A:G p.(Tyr1530=) NC_000019.10:10136186:A:G Identity +NM_001256324.2:c.2661C>T NP_001243253.1:p.Phe887= NC_000017.11:50591759:C:T p.(Phe887=) NC_000017.11:50591759:C:T p.(Phe887=) NC_000017.11:50591759:C:T Identity +NM_000046.5:c.555C>T NP_000037.2:p.Asp185= NC_000005.10:78964550:G:A p.(Asp185=) NC_000005.10:78964550:G:A p.(Asp185=) NC_000005.10:78964550:G:A Identity +NM_001286957.2:c.723A>T NP_001273886.1:p.Leu241= NC_000012.12:48921054:A:T p.(Leu241=) NC_000012.12:48921054:A:T p.(Leu241=) NC_000012.12:48921054:A:T Identity +NM_001378454.1:c.9843A>G NP_001365383.1:p.Gln3281= NC_000002.12:73534884:A:G p.(Gln3281=) NC_000002.12:73534884:A:G p.(Gln3281=) NC_000002.12:73534884:A:G Identity +NM_000567.3:c.636G>T NP_000558.2:p.Val212= NC_000001.11:159713563:C:A p.(Val212=) NC_000001.11:159713563:C:A p.(Val212=) NC_000001.11:159713563:C:A Identity +NM_000069.3:c.975C>T NP_000060.2:p.Ile325= NC_000001.11:201087854:G:A p.(Ile325=) NC_000001.11:201087854:G:A p.(Ile325=) NC_000001.11:201087854:G:A Identity +NM_001171933.1:c.2193C>T NP_001165404.1:p.Phe731= NC_000010.11:71810009:C:T p.(Phe731=) NC_000010.11:71810009:C:T p.(Phe731=) NC_000010.11:71810009:C:T Identity +NM_001036.6:c.5217T>C NP_001027.3:p.Asp1739= NC_000015.10:33662746:T:C p.(Asp1739=) NC_000015.10:33662746:T:C p.(Asp1739=) NC_000015.10:33662746:T:C Identity +NM_020754.4:c.279G>A NP_065805.2:p.Ser93= NC_000003.12:119368446:G:A p.(Ser93=) NC_000003.12:119368446:G:A p.(Ser93=) NC_000003.12:119368446:G:A Identity +NM_001127487.2:c.2307G>A NP_001120959.1:p.Val769= NC_000007.14:128842615:G:A p.(Val769=) NC_000007.14:128842615:G:A p.(Val769=) NC_000007.14:128842615:G:A Identity +NM_004104.5:c.4674C>T NP_004095.4:p.Cys1558= NC_000017.11:82084606:G:A p.(Cys1558=) NC_000017.11:82084606:G:A p.(Cys1558=) NC_000017.11:82084606:G:A Identity +NM_001384166.1:c.690T>A NP_001371095.1:p.Ser230= NC_000017.11:44076036:T:A p.(Ser230=) NC_000017.11:44076036:T:A p.(Ser230=) NC_000017.11:44076036:T:A Identity +NM_138327.4:c.621A>G NP_612200.1:p.Leu207= NC_000006.12:132645382:T:C p.(Leu207=) NC_000006.12:132645382:T:C p.(Leu207=) NC_000006.12:132645382:T:C Identity +NM_002294.3:c.1140G>T NP_002285.1:p.Ala380= NC_000023.11:120431415:C:A p.(Ala380=) NC_000023.11:120431415:C:A p.(Ala380=) NC_000023.11:120431415:C:A Identity +NM_001371411.1:c.519C>T NP_001358340.1:p.Asn173= NC_000002.12:227699195:G:A p.(Asn173=) NC_000002.12:227699195:G:A p.(Asn173=) NC_000002.12:227699195:G:A Identity +NM_001145527.2:c.312G>A NP_001138999.1:p.Ala104= NC_000009.12:137716851:G:A p.(Ala104=) NC_000009.12:137716851:G:A p.(Ala104=) NC_000009.12:137716851:G:A Identity +NM_001039492.3:c.291C>T NP_001034581.1:p.Tyr97= NC_000002.12:105373598:G:A p.(Tyr97=) NC_000002.12:105373598:G:A p.(Tyr97=) NC_000002.12:105373598:G:A Identity +NM_005045.4:c.9327C>G NP_005036.2:p.Ser3109= NC_000007.14:103495764:G:C p.(Ser3109=) NC_000007.14:103495764:G:C p.(Ser3109=) NC_000007.14:103495764:G:C Identity +NM_005012.4:c.2424G>A NP_005003.2:p.Pro808= NC_000001.11:64178464:G:A p.(Pro808=) NC_000001.11:64178464:G:A p.(Pro808=) NC_000001.11:64178464:G:A Identity +NM_001127198.5:c.513C>T NP_001120670.1:p.Ser171= NC_000017.11:78125180:G:A p.(Ser171=) NC_000017.11:78125180:G:A p.(Ser171=) NC_000017.11:78125180:G:A Identity +NM_001365999.1:c.5073G>A NP_001352928.1:p.Glu1691= NC_000001.11:43431507:G:A p.(Glu1691=) NC_000001.11:43431507:G:A p.(Glu1691=) NC_000001.11:43431507:G:A Identity +NM_001142864.4:c.5913C>T NP_001136336.2:p.Asp1971= NC_000016.10:88720420:G:A p.(Asp1971=) NC_000016.10:88720420:G:A p.(Asp1971=) NC_000016.10:88720420:G:A Identity +NM_005564.5:c.93A>G NP_005555.2:p.Pro31= NC_000009.12:128149617:A:G p.(Pro31=) NC_000009.12:128149617:A:G p.(Pro31=) NC_000009.12:128149617:A:G Identity +NM_001354927.2:c.489C>T NP_001341856.1:p.Gly163= NC_000009.12:35064237:G:A p.(Gly163=) NC_000009.12:35064237:G:A p.(Gly163=) NC_000009.12:35064237:G:A Identity +NM_001350626.2:c.438C>T NP_001337555.1:p.Val146= NC_000007.14:2543954:G:A p.(Val146=) NC_000007.14:2543954:G:A p.(Val146=) NC_000007.14:2543954:G:A Identity +NM_001330588.2:c.654G>A NP_001317517.1:p.Leu218= NC_000013.11:102622909:G:A p.(Leu218=) NC_000013.11:102622909:G:A p.(Leu218=) NC_000013.11:102622909:G:A Identity +NM_001127207.2:c.2532C>T NP_001120679.1:p.Pro844= NC_000002.12:216478205:C:T p.(Pro844=) NC_000002.12:216478205:C:T p.(Pro844=) NC_000002.12:216478205:C:T Identity +NM_000112.4:c.1938G>A NP_000103.2:p.Leu646= NC_000005.10:149981530:G:A p.(Leu646=) NC_000005.10:149981530:G:A p.(Leu646=) NC_000005.10:149981530:G:A Identity +NM_001317184.2:c.723A>T NP_001304113.1:p.Ala241= NC_000016.10:68810231:A:T p.(Ala241=) NC_000016.10:68810231:A:T p.(Ala241=) NC_000016.10:68810231:A:T Identity +NM_001201484.2:c.615C>T NP_001188413.1:p.Asp205= NC_000009.12:35094255:G:A p.(Asp205=) NC_000009.12:35094255:G:A p.(Asp205=) NC_000009.12:35094255:G:A Identity +NM_001164507.2:c.9540G>A NP_001157979.2:p.Pro3180= NC_000002.12:151631220:C:T p.(Pro3180=) NC_000002.12:151631220:C:T p.(Pro3180=) NC_000002.12:151631220:C:T Identity +NM_015662.3:c.1105T>C NP_056477.1:p.Leu369= NC_000002.12:27478056:A:G p.(Leu369=) NC_000002.12:27478056:A:G p.(Leu369=) NC_000002.12:27478056:A:G Identity +NM_003482.4:c.462C>T NP_003473.3:p.Gly154= NC_000012.12:49054354:G:A p.(Gly154=) NC_000012.12:49054354:G:A p.(Gly154=) NC_000012.12:49054354:G:A Identity +NM_005314.3:c.504C>T NP_005305.1:p.Ser168= NC_000023.11:16150394:C:T p.(Ser168=) NC_000023.11:16150394:C:T p.(Ser168=) NC_000023.11:16150394:C:T Identity +NM_005562.3:c.1971G>A NP_005553.2:p.Glu657= NC_000001.11:183232299:G:A p.(Glu657=) NC_000001.11:183232299:G:A p.(Glu657=) NC_000001.11:183232299:G:A Identity +NM_030928.4:c.759C>T NP_112190.2:p.Arg253= NC_000016.10:88805795:C:T p.(Arg253=) NC_000016.10:88805795:C:T p.(Arg253=) NC_000016.10:88805795:C:T Identity +NM_001318520.2:c.1665T>C NP_001305449.1:p.Ser555= NC_000018.10:70075514:A:G p.(Ser555=) NC_000018.10:70075514:A:G p.(Ser555=) NC_000018.10:70075514:A:G Identity +NM_001174089.2:c.1002C>T NP_001167560.1:p.Ile334= NC_000020.11:3231188:G:A p.(Ile334=) NC_000020.11:3231188:G:A p.(Ile334=) NC_000020.11:3231188:G:A Identity +NM_001195573.1:c.4842A>G NP_001182502.1:p.Gln1614= NC_000014.9:95096077:T:C p.(Gln1614=) NC_000014.9:95096077:T:C p.(Gln1614=) NC_000014.9:95096077:T:C Identity +NM_000222.3:c.96G>A NP_000213.1:p.Gly32= NC_000004.12:54695539:G:A p.(Gly32=) NC_000004.12:54695539:G:A p.(Gly32=) NC_000004.12:54695539:G:A Identity +NM_001286577.2:c.3750C>G NP_001273506.1:p.Thr1250= NC_000011.10:74085777:G:C p.(Thr1250=) NC_000011.10:74085777:G:C p.(Thr1250=) NC_000011.10:74085777:G:C Identity +NM_001283009.2:c.2349C>T NP_001269938.1:p.Phe783= NC_000020.11:63690376:C:T p.(Phe783=) NC_000020.11:63690376:C:T p.(Phe783=) NC_000020.11:63690376:C:T Identity +NM_001917.5:c.840T>A NP_001908.3:p.Thr280= NC_000012.12:108899402:T:A p.(Thr280=) NC_000012.12:108899402:T:A p.(Thr280=) NC_000012.12:108899402:T:A Identity +NM_001330588.2:c.828T>C NP_001317517.1:p.Phe276= NC_000013.11:102627054:T:C p.(Phe276=) NC_000013.11:102627054:T:C p.(Phe276=) NC_000013.11:102627054:T:C Identity +NM_001145472.3:c.1899C>T NP_001138944.1:p.Phe633= NC_000018.10:46521135:G:A p.(Phe633=) NC_000018.10:46521135:G:A p.(Phe633=) NC_000018.10:46521135:G:A Identity +NM_001308258.2:c.2172C>T NP_001295187.1:p.Ala724= NC_000003.12:149167110:C:T p.(Ala724=) NC_000003.12:149167110:C:T p.(Ala724=) NC_000003.12:149167110:C:T Identity +NM_000553.6:c.681A>G NP_000544.2:p.Leu227= NC_000008.11:31068283:A:G p.(Leu227=) NC_000008.11:31068283:A:G p.(Leu227=) NC_000008.11:31068283:A:G Identity +NM_004064.5:c.483T>C NP_004055.1:p.Ser161= NC_000012.12:12718831:T:C p.(Ser161=) NC_000012.12:12718831:T:C p.(Ser161=) NC_000012.12:12718831:T:C Identity +NM_014049.5:c.1533C>T NP_054768.2:p.Thr511= NC_000003.12:128909390:C:T p.(Thr511=) NC_000003.12:128909390:C:T p.(Thr511=) NC_000003.12:128909390:C:T Identity +NM_000101.4:c.426G>A NP_000092.2:p.Pro142= NC_000016.10:88643514:C:T p.(Pro142=) NC_000016.10:88643514:C:T p.(Pro142=) NC_000016.10:88643514:C:T Identity +NM_001277126.2:c.1281G>A NP_001264055.1:p.Thr427= NC_000019.10:53810377:C:T p.(Thr427=) NC_000019.10:53810377:C:T p.(Thr427=) NC_000019.10:53810377:C:T Identity +NM_001031681.3:c.66A>C NP_001026851.2:p.Ser22= NC_000017.11:3647447:A:C p.(Ser22=) NC_000017.11:3647447:A:C p.(Ser22=) NC_000017.11:3647447:A:C Identity +NM_000263.4:c.708C>T NP_000254.2:p.Phe236= NC_000017.11:42538698:C:T p.(Phe236=) NC_000017.11:42538698:C:T p.(Phe236=) NC_000017.11:42538698:C:T Identity +NM_004526.4:c.1497G>C NP_004517.2:p.Leu499= NC_000003.12:127615929:G:C p.(Leu499=) NC_000003.12:127615929:G:C p.(Leu499=) NC_000003.12:127615929:G:C Identity +NM_002292.4:c.1218G>A NP_002283.3:p.Val406= NC_000003.12:49130237:C:T p.(Val406=) NC_000003.12:49130237:C:T p.(Val406=) NC_000003.12:49130237:C:T Identity +NM_000051.4:c.2842C>T NP_000042.3:p.Leu948= NC_000011.10:108271066:C:T p.(Leu948=) NC_000011.10:108271066:C:T p.(Leu948=) NC_000011.10:108271066:C:T Identity +NM_005876.5:c.1572C>T NP_005867.3:p.Ala524= NC_000002.12:219448729:C:T p.(Ala524=) NC_000002.12:219448729:C:T p.(Ala524=) NC_000002.12:219448729:C:T Identity +NM_004982.4:c.12A>G NP_004973.1:p.Arg4= NC_000012.12:21773604:T:C p.(Arg4=) NC_000012.12:21773604:T:C p.(Arg4=) NC_000012.12:21773604:T:C Identity +NM_001204269.2:c.273C>T NP_001191198.1:p.Tyr91= NC_000001.11:110604509:G:A p.(Tyr91=) NC_000001.11:110604509:G:A p.(Tyr91=) NC_000001.11:110604509:G:A Identity +NM_012448.4:c.741C>T NP_036580.2:p.Ile247= NC_000017.11:42219403:G:A p.(Ile247=) NC_000017.11:42219403:G:A p.(Ile247=) NC_000017.11:42219403:G:A Identity +NM_004304.5:c.1257C>T NP_004295.2:p.Phe419= NC_000002.12:29383756:G:A p.(Phe419=) NC_000002.12:29383756:G:A p.(Phe419=) NC_000002.12:29383756:G:A Identity +NM_001142864.4:c.4386G>A NP_001136336.2:p.Arg1462= NC_000016.10:88723277:C:T p.(Arg1462=) NC_000016.10:88723277:C:T p.(Arg1462=) NC_000016.10:88723277:C:T Identity +NM_001142763.2:c.3948T>C NP_001136235.1:p.Tyr1316= NC_000010.11:53840369:A:G p.(Tyr1316=) NC_000010.11:53840369:A:G p.(Tyr1316=) NC_000010.11:53840369:A:G Identity +NM_000771.4:c.264T>C NP_000762.2:p.Ile88= NC_000010.11:94941952:T:C p.(Ile88=) NC_000010.11:94941952:T:C p.(Ile88=) NC_000010.11:94941952:T:C Identity +NM_001163940.2:c.1554G>A NP_001157412.1:p.Thr518= NC_000014.9:50912267:C:T p.(Thr518=) NC_000014.9:50912267:C:T p.(Thr518=) NC_000014.9:50912267:C:T Identity +NM_000360.4:c.81G>A NP_000351.2:p.Glu27= NC_000011.10:2171705:C:T p.(Glu27=) NC_000011.10:2171705:C:T p.(Glu27=) NC_000011.10:2171705:C:T Identity +NM_015168.2:c.837G>A NP_055983.1:p.Glu279= NC_000019.10:47086416:C:T p.(Glu279=) NC_000019.10:47086416:C:T p.(Glu279=) NC_000019.10:47086416:C:T Identity +NM_004104.5:c.6804C>T NP_004095.4:p.Thr2268= NC_000017.11:82080713:G:A p.(Thr2268=) NC_000017.11:82080713:G:A p.(Thr2268=) NC_000017.11:82080713:G:A Identity +NM_001032280.3:c.690G>A NP_001027451.1:p.Arg230= NC_000006.12:10404563:C:T p.(Arg230=) NC_000006.12:10404563:C:T p.(Arg230=) NC_000006.12:10404563:C:T Identity +NM_020533.3:c.1032G>A NP_065394.1:p.Leu344= NC_000019.10:7528867:G:A p.(Leu344=) NC_000019.10:7528867:G:A p.(Leu344=) NC_000019.10:7528867:G:A Identity +NM_001145527.2:c.1959A>T NP_001138999.1:p.Pro653= NC_000009.12:137776784:A:T p.(Pro653=) NC_000009.12:137776784:A:T p.(Pro653=) NC_000009.12:137776784:A:T Identity +NM_006231.4:c.4905C>T NP_006222.2:p.His1635= NC_000012.12:132642552:G:A p.(His1635=) NC_000012.12:132642552:G:A p.(His1635=) NC_000012.12:132642552:G:A Identity +NM_000245.4:c.2754C>A NP_000236.2:p.Thr918= NC_000007.14:116771520:C:A p.(Thr918=) NC_000007.14:116771520:C:A p.(Thr918=) NC_000007.14:116771520:C:A Identity +NM_020759.3:c.11979T>C NP_065810.2:p.Phe3993= NC_000015.10:42693556:T:C p.(Phe3993=) NC_000015.10:42693556:T:C p.(Phe3993=) NC_000015.10:42693556:T:C Identity +NM_032520.5:c.258C>T NP_115909.1:p.Phe86= NC_000016.10:1361895:C:T p.(Phe86=) NC_000016.10:1361895:C:T p.(Phe86=) NC_000016.10:1361895:C:T Identity +NM_001291860.2:c.6678C>A NP_001278789.1:p.Gly2226= NC_000001.11:21852748:G:T p.(Gly2226=) NC_000001.11:21852748:G:T p.(Gly2226=) NC_000001.11:21852748:G:T Identity +NM_001064.4:c.1170A>G NP_001055.1:p.Ala390= NC_000003.12:53229373:T:C p.(Ala390=) NC_000003.12:53229373:T:C p.(Ala390=) NC_000003.12:53229373:T:C Identity +NM_001135058.2:c.1332A>G NP_001128530.1:p.Thr444= NC_000014.9:30886166:A:G p.(Thr444=) NC_000014.9:30886166:A:G p.(Thr444=) NC_000014.9:30886166:A:G Identity +NM_001303496.3:c.600A>G NP_001290425.1:p.Lys200= NC_000007.14:93135371:T:C p.(Lys200=) NC_000007.14:93135371:T:C p.(Lys200=) NC_000007.14:93135371:T:C Identity +NM_001317184.2:c.648G>A NP_001304113.1:p.Val216= NC_000016.10:68808808:G:A p.(Val216=) NC_000016.10:68808808:G:A p.(Val216=) NC_000016.10:68808808:G:A Identity +NM_001290048.2:c.1098G>A NP_001276977.1:p.Glu366= NC_000011.10:63631426:C:T p.(Glu366=) NC_000011.10:63631426:C:T p.(Glu366=) NC_000011.10:63631426:C:T Identity +NM_003000.3:c.558C>T NP_002991.2:p.Cys186= NC_000001.11:17024056:G:A p.(Cys186=) NC_000001.11:17024056:G:A p.(Cys186=) NC_000001.11:17024056:G:A Identity +NM_012242.4:c.111C>T NP_036374.1:p.Leu37= NC_000010.11:52314544:C:T p.(Leu37=) NC_000010.11:52314544:C:T p.(Leu37=) NC_000010.11:52314544:C:T Identity +NM_001293298.2:c.3639G>A NP_001280227.1:p.Val1213= NC_000015.10:80942276:G:A p.(Val1213=) NC_000015.10:80942276:G:A p.(Val1213=) NC_000015.10:80942276:G:A Identity +NM_001039885.3:c.1465C>T NP_001034974.1:p.Leu489= NC_000019.10:46756914:C:T p.(Leu489=) NC_000019.10:46756914:C:T p.(Leu489=) NC_000019.10:46756914:C:T Identity +NM_144573.4:c.987A>C NP_653174.3:p.Ala329= NC_000001.11:77929437:A:C p.(Ala329=) NC_000001.11:77929437:A:C p.(Ala329=) NC_000001.11:77929437:A:C Identity +NM_001317012.2:c.1791C>T NP_001303941.1:p.His597= NC_000020.11:23370095:C:T p.(His597=) NC_000020.11:23370095:C:T p.(His597=) NC_000020.11:23370095:C:T Identity +NM_001290307.3:c.555T>C NP_001277236.1:p.Asp185= NC_000005.10:138812268:T:C p.(Asp185=) NC_000005.10:138812268:T:C p.(Asp185=) NC_000005.10:138812268:T:C Identity +NM_005430.4:c.820C>T NP_005421.1:p.Leu274= NC_000012.12:48981346:C:T p.(Leu274=) NC_000012.12:48981346:C:T p.(Leu274=) NC_000012.12:48981346:C:T Identity +NM_001276479.2:c.1578C>T NP_001263408.1:p.Asp526= NC_000019.10:5696672:G:A p.(Asp526=) NC_000019.10:5696672:G:A p.(Asp526=) NC_000019.10:5696672:G:A Identity +NM_017841.4:c.312C>A NP_060311.1:p.Leu104= NC_000011.10:61438054:C:A p.(Leu104=) NC_000011.10:61438054:C:A p.(Leu104=) NC_000011.10:61438054:C:A Identity +NM_001365536.1:c.2554T>C NP_001352465.1:p.Leu852= NC_000002.12:166277302:A:G p.(Leu852=) NC_000002.12:166277302:A:G p.(Leu852=) NC_000002.12:166277302:A:G Identity +NM_004656.4:c.2115C>T NP_004647.1:p.Ser705= NC_000003.12:52402362:G:A p.(Ser705=) NC_000003.12:52402362:G:A p.(Ser705=) NC_000003.12:52402362:G:A Identity +NM_002296.4:c.963C>T NP_002287.2:p.Tyr321= NC_000001.11:225412574:G:A p.(Tyr321=) NC_000001.11:225412574:G:A p.(Tyr321=) NC_000001.11:225412574:G:A Identity +NM_001282225.2:c.948C>T NP_001269154.1:p.Pro316= NC_000022.11:17189965:G:A p.(Pro316=) NC_000022.11:17189965:G:A p.(Pro316=) NC_000022.11:17189965:G:A Identity +NM_024602.6:c.1455T>G NP_078878.3:p.Arg485= NC_000001.11:45007460:A:C p.(Arg485=) NC_000001.11:45007460:A:C p.(Arg485=) NC_000001.11:45007460:A:C Identity +NM_000264.5:c.3393G>A NP_000255.2:p.Val1131= NC_000009.12:95453533:C:T p.(Val1131=) NC_000009.12:95453533:C:T p.(Val1131=) NC_000009.12:95453533:C:T Identity +NM_001384268.1:c.2505C>T NP_001371197.1:p.Ser835= NC_000011.10:88567177:G:A p.(Ser835=) NC_000011.10:88567177:G:A p.(Ser835=) NC_000011.10:88567177:G:A Identity +NM_030777.4:c.9C>T NP_110404.1:p.His3= NC_000020.11:46725044:C:T p.(His3=) NC_000020.11:46725044:C:T p.(His3=) NC_000020.11:46725044:C:T Identity +NM_032601.4:c.327A>T NP_115990.3:p.Ala109= NC_000002.12:71124256:T:A p.(Ala109=) NC_000002.12:71124256:T:A p.(Ala109=) NC_000002.12:71124256:T:A Identity +NM_004646.4:c.1068C>T NP_004637.1:p.Asn356= NC_000019.10:35848738:G:A p.(Asn356=) NC_000019.10:35848738:G:A p.(Asn356=) NC_000019.10:35848738:G:A Identity +NM_004387.4:c.639G>C NP_004378.1:p.Pro213= NC_000005.10:173232904:C:G p.(Pro213=) NC_000005.10:173232904:C:G p.(Pro213=) NC_000005.10:173232904:C:G Identity +NM_001349370.3:c.5412A>G NP_001336299.1:p.Thr1804= NC_000003.12:47084235:T:C p.(Thr1804=) NC_000003.12:47084235:T:C p.(Thr1804=) NC_000003.12:47084235:T:C Identity +NM_001130067.2:c.2058C>T NP_001123539.1:p.Ala686= NC_000004.12:153328645:C:T p.(Ala686=) NC_000004.12:153328645:C:T p.(Ala686=) NC_000004.12:153328645:C:T Identity +NM_001077206.4:c.2904C>T NP_001070674.1:p.Pro968= NC_000004.12:82827413:G:A p.(Pro968=) NC_000004.12:82827413:G:A p.(Pro968=) NC_000004.12:82827413:G:A Identity +NM_001300914.2:c.18C>T NP_001287843.1:p.Phe6= NC_000019.10:14516939:G:A p.(Phe6=) NC_000019.10:14516939:G:A p.(Phe6=) NC_000019.10:14516939:G:A Identity +NM_001270965.2:c.27C>T NP_001257894.1:p.Cys9= NC_000010.11:102417011:G:A p.(Cys9=) NC_000010.11:102417011:G:A p.(Cys9=) NC_000010.11:102417011:G:A Identity +LRG_870t1:c.174C>A LRG_870p1:p.Thr58= NC_000007.14:128830810:C:A ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_870t1 not found +NM_000720.4:c.4062A>G NP_000711.1:p.Glu1354= NC_000003.12:53770509:A:G p.(Glu1354=) NC_000003.12:53770509:A:G p.(Glu1354=) NC_000003.12:53770509:A:G Identity +NM_014244.5:c.3627A>G NP_055059.2:p.Gly1209= NC_000005.10:179113875:T:C p.(Gly1209=) NC_000005.10:179113875:T:C p.(Gly1209=) NC_000005.10:179113875:T:C Identity +NM_001272003.2:c.1488G>A NP_001258932.1:p.Glu496= NC_000009.12:135770300:G:A p.(Glu496=) NC_000009.12:135770300:G:A p.(Glu496=) NC_000009.12:135770300:G:A Identity +NM_001037633.2:c.1326C>T NP_001032722.1:p.Asp442= NC_000005.10:138947176:G:A p.(Asp442=) NC_000005.10:138947176:G:A p.(Asp442=) NC_000005.10:138947176:G:A Identity +NM_001174089.2:c.735C>T NP_001167560.1:p.Ser245= NC_000020.11:3231542:G:A p.(Ser245=) NC_000020.11:3231542:G:A p.(Ser245=) NC_000020.11:3231542:G:A Identity +NM_001318833.2:c.585C>T NP_001305762.1:p.His195= NC_000006.12:31888972:G:A p.(His195=) NC_000006.12:31888972:G:A p.(His195=) NC_000006.12:31888972:G:A Identity +NM_003718.5:c.1878A>G NP_003709.3:p.Arg626= NC_000007.14:39997499:A:G p.(Arg626=) NC_000007.14:39997499:A:G p.(Arg626=) NC_000007.14:39997499:A:G Identity +NM_001040142.2:c.1305A>G NP_001035232.1:p.Thr435= NC_000002.12:165314029:A:G p.(Thr435=) NC_000002.12:165314029:A:G p.(Thr435=) NC_000002.12:165314029:A:G Identity +NM_001350914.2:c.2967G>C NP_001337843.1:p.Leu989= NC_000007.14:158945682:G:C p.(Leu989=) NC_000007.14:158945682:G:C p.(Leu989=) NC_000007.14:158945682:G:C Identity +NM_020919.4:c.4773C>T NP_065970.2:p.His1591= NC_000002.12:201704518:G:A p.(His1591=) NC_000002.12:201704518:G:A p.(His1591=) NC_000002.12:201704518:G:A Identity +NM_001128844.3:c.1023C>A NP_001122316.1:p.Pro341= NC_000019.10:10987828:C:A p.(Pro341=) NC_000019.10:10987828:C:A p.(Pro341=) NC_000019.10:10987828:C:A Identity +NM_001127215.3:c.1239G>A NP_001120687.1:p.Arg413= NC_000001.11:92476058:C:T p.(Arg413=) NC_000001.11:92476058:C:T p.(Arg413=) NC_000001.11:92476058:C:T Identity +NM_001330358.2:c.1524G>A NP_001317287.1:p.Leu508= NC_000001.11:11794035:C:T p.(Leu508=) NC_000001.11:11794035:C:T p.(Leu508=) NC_000001.11:11794035:C:T Identity +NM_139058.3:c.1104C>T NP_620689.1:p.Thr368= NC_000023.11:25010274:G:A p.(Thr368=) NC_000023.11:25010274:G:A p.(Thr368=) NC_000023.11:25010274:G:A Identity +NM_005765.3:c.357G>A NP_005756.2:p.Glu119= NC_000023.11:40597304:G:A p.(Glu119=) NC_000023.11:40597304:G:A p.(Glu119=) NC_000023.11:40597304:G:A Identity +NM_002458.3:c.144G>A NP_002449.2:p.Ser48= NC_000011.10:1226220:G:A p.(Ser48=) NC_000011.10:1226220:G:A p.(Ser48=) NC_000011.10:1226220:G:A Identity +NM_001142929.2:c.1131A>G NP_001136401.2:p.Leu377= NC_000010.11:49649609:A:G p.(Leu377=) NC_000010.11:49649609:A:G p.(Leu377=) NC_000010.11:49649609:A:G Identity +NM_001128844.3:c.2448C>A NP_001122316.1:p.Ser816= NC_000019.10:11018965:C:A p.(Ser816=) NC_000019.10:11018965:C:A p.(Ser816=) NC_000019.10:11018965:C:A Identity +NM_001127487.2:c.2730C>G NP_001120959.1:p.Ala910= NC_000007.14:128843495:C:G p.(Ala910=) NC_000007.14:128843495:C:G p.(Ala910=) NC_000007.14:128843495:C:G Identity +NM_001164507.2:c.17356C>T NP_001157979.2:p.Leu5786= NC_000002.12:151570154:G:A p.(Leu5786=) NC_000002.12:151570154:G:A p.(Leu5786=) NC_000002.12:151570154:G:A Identity +NM_000638.4:c.1020C>T NP_000629.3:p.His340= NC_000017.11:28368018:G:A p.(His340=) NC_000017.11:28368018:G:A p.(His340=) NC_000017.11:28368018:G:A Identity +NM_001111125.3:c.4317C>T NP_001104595.1:p.Pro1439= NC_000023.11:53234368:G:A p.(Pro1439=) NC_000023.11:53234368:G:A p.(Pro1439=) NC_000023.11:53234368:G:A Identity +NM_007254.4:c.1020C>T NP_009185.2:p.Ala340= NC_000019.10:49862379:G:A p.(Ala340=) NC_000019.10:49862379:G:A p.(Ala340=) NC_000019.10:49862379:G:A Identity +NM_001320415.2:c.141A>G NP_001307344.1:p.Gln47= NC_000014.9:65076628:T:C p.(Gln47=) NC_000014.9:65076628:T:C p.(Gln47=) NC_000014.9:65076628:T:C Identity +NM_002546.4:c.840C>T NP_002537.3:p.Ser280= NC_000008.11:118924739:G:A p.(Ser280=) NC_000008.11:118924739:G:A p.(Ser280=) NC_000008.11:118924739:G:A Identity +NM_001127214.4:c.1074C>G NP_001120686.1:p.Thr358= NC_000016.10:89114434:C:G p.(Thr358=) NC_000016.10:89114434:C:G p.(Thr358=) NC_000016.10:89114434:C:G Identity +NM_001128844.3:c.2019G>A NP_001122316.1:p.Gln673= NC_000019.10:11007918:G:A p.(Gln673=) NC_000019.10:11007918:G:A p.(Gln673=) NC_000019.10:11007918:G:A Identity +NM_001256071.3:c.8142G>A NP_001243000.2:p.Pro2714= NC_000017.11:80346476:G:A p.(Pro2714=) NC_000017.11:80346476:G:A p.(Pro2714=) NC_000017.11:80346476:G:A Identity +NM_014654.4:c.963A>G NP_055469.3:p.Glu321= NC_000001.11:30874495:T:C p.(Glu321=) NC_000001.11:30874495:T:C p.(Glu321=) NC_000001.11:30874495:T:C Identity +NM_001313726.2:c.1218A>G NP_001300655.1:p.Gly406= NC_000011.10:26541948:A:G p.(Gly406=) NC_000011.10:26541948:A:G p.(Gly406=) NC_000011.10:26541948:A:G Identity +NM_000059.4:c.7929T>C NP_000050.3:p.Ala2643= NC_000013.11:32362645:T:C p.(Ala2643=) NC_000013.11:32362645:T:C p.(Ala2643=) NC_000013.11:32362645:T:C Identity +NM_001199397.3:c.2190C>G NP_001186326.1:p.Thr730= NC_000004.12:169477446:G:C p.(Thr730=) NC_000004.12:169477446:G:C p.(Thr730=) NC_000004.12:169477446:G:C Identity +NM_001112741.2:c.435C>A NP_001106212.1:p.Gly145= NC_000011.10:17736436:C:A p.(Gly145=) NC_000011.10:17736436:C:A p.(Gly145=) NC_000011.10:17736436:C:A Identity +NM_001003841.3:c.219G>A NP_001003841.1:p.Pro73= NC_000005.10:1208761:G:A p.(Pro73=) NC_000005.10:1208761:G:A p.(Pro73=) NC_000005.10:1208761:G:A Identity +NM_001369512.1:c.2295C>T NP_001356441.1:p.Cys765= NC_000017.11:42315762:G:A p.(Cys765=) NC_000017.11:42315762:G:A p.(Cys765=) NC_000017.11:42315762:G:A Identity +NM_000246.4:c.1740C>G NP_000237.2:p.Arg580= NC_000016.10:10907231:C:G p.(Arg580=) NC_000016.10:10907231:C:G p.(Arg580=) NC_000016.10:10907231:C:G Identity +NM_001348768.2:c.360A>G NP_001335697.1:p.Gln120= NC_000002.12:196343696:T:C p.(Gln120=) NC_000002.12:196343696:T:C p.(Gln120=) NC_000002.12:196343696:T:C Identity +NM_052843.4:c.19728G>C NP_443075.3:p.Arg6576= NC_000001.11:228360619:G:C p.(Arg6576=) NC_000001.11:228360619:G:C p.(Arg6576=) NC_000001.11:228360619:G:C Identity +NM_001382.4:c.1141T>C NP_001373.2:p.Leu381= NC_000011.10:119097161:A:G p.(Leu381=) NC_000011.10:119097161:A:G p.(Leu381=) NC_000011.10:119097161:A:G Identity +NM_004260.4:c.3372C>T NP_004251.4:p.Gly1124= NC_000008.11:144511931:G:A p.(Gly1124=) NC_000008.11:144511931:G:A p.(Gly1124=) NC_000008.11:144511931:G:A Identity +NM_003718.5:c.3645A>G NP_003709.3:p.Ser1215= NC_000007.14:40093193:A:G p.(Ser1215=) NC_000007.14:40093193:A:G p.(Ser1215=) NC_000007.14:40093193:A:G Identity +NM_001081676.2:c.1692C>T NP_001075145.1:p.Gly564= NC_000002.12:165140977:G:A p.(Gly564=) NC_000002.12:165140977:G:A p.(Gly564=) NC_000002.12:165140977:G:A Identity +NM_001321703.2:c.4086C>T NP_001308632.1:p.Gly1362= NC_000008.11:70124695:G:A p.(Gly1362=) NC_000008.11:70124695:G:A p.(Gly1362=) NC_000008.11:70124695:G:A Identity +NM_001195573.1:c.4623G>A NP_001182502.1:p.Lys1541= NC_000014.9:95096296:C:T p.(Lys1541=) NC_000014.9:95096296:C:T p.(Lys1541=) NC_000014.9:95096296:C:T Identity +NM_000059.4:c.9036A>G NP_000050.3:p.Ala3012= NC_000013.11:32379831:A:G p.(Ala3012=) NC_000013.11:32379831:A:G p.(Ala3012=) NC_000013.11:32379831:A:G Identity +NM_003183.6:c.165A>T NP_003174.3:p.Val55= NC_000002.12:9543217:T:A p.(Val55=) NC_000002.12:9543217:T:A p.(Val55=) NC_000002.12:9543217:T:A Identity +NM_001256944.2:c.726C>A NP_001243873.1:p.Ile242= NC_000023.11:10208208:C:A p.(Ile242=) NC_000023.11:10208208:C:A p.(Ile242=) NC_000023.11:10208208:C:A Identity +NM_000028.3:c.69C>T NP_000019.2:p.Phe23= NC_000001.11:99851110:C:T p.(Phe23=) NC_000001.11:99851110:C:T p.(Phe23=) NC_000001.11:99851110:C:T Identity +NM_014875.3:c.1185G>A NP_055690.1:p.Thr395= NC_000001.11:200615536:C:T p.(Thr395=) NC_000001.11:200615536:C:T p.(Thr395=) NC_000001.11:200615536:C:T Identity +NM_001184.4:c.4398G>A NP_001175.2:p.Gln1466= NC_000003.12:142515499:C:T p.(Gln1466=) NC_000003.12:142515499:C:T p.(Gln1466=) NC_000003.12:142515499:C:T Identity +NM_001160302.2:c.384T>C NP_001153774.1:p.Phe128= NC_000021.9:32699932:A:G p.(Phe128=) NC_000021.9:32699932:A:G p.(Phe128=) NC_000021.9:32699932:A:G Identity +NM_016953.4:c.622T>C NP_058649.3:p.Leu208= NC_000002.12:178071815:A:G p.(Leu208=) NC_000002.12:178071815:A:G p.(Leu208=) NC_000002.12:178071815:A:G Identity +NM_002048.3:c.993C>G NP_002039.2:p.Thr331= NC_000009.12:86945786:G:C p.(Thr331=) NC_000009.12:86945786:G:C p.(Thr331=) NC_000009.12:86945786:G:C Identity +NM_001014797.3:c.1122C>T NP_001014797.1:p.Leu374= NC_000010.11:77110181:G:A p.(Leu374=) NC_000010.11:77110181:G:A p.(Leu374=) NC_000010.11:77110181:G:A Identity +NM_001367830.1:c.2430T>C NP_001354759.1:p.His810= NC_000019.10:11235721:A:G p.(His810=) NC_000019.10:11235721:A:G p.(His810=) NC_000019.10:11235721:A:G Identity +NM_016247.4:c.1230A>T NP_057331.2:p.Ser410= NC_000003.12:101253704:T:A p.(Ser410=) NC_000003.12:101253704:T:A p.(Ser410=) NC_000003.12:101253704:T:A Identity +NM_003872.3:c.2316C>T NP_003863.2:p.Phe772= NC_000002.12:205765481:C:T p.(Phe772=) NC_000002.12:205765481:C:T p.(Phe772=) NC_000002.12:205765481:C:T Identity +NM_004557.4:c.801T>A NP_004548.3:p.Gly267= NC_000006.12:32220876:A:T p.(Gly267=) NC_000006.12:32220876:A:T p.(Gly267=) NC_000006.12:32220876:A:T Identity +NM_001999.4:c.4590T>C NP_001990.2:p.Cys1530= NC_000005.10:128318882:A:G p.(Cys1530=) NC_000005.10:128318882:A:G p.(Cys1530=) NC_000005.10:128318882:A:G Identity +NM_000920.4:c.2268C>T NP_000911.2:p.Val756= NC_000011.10:66850878:G:A p.(Val756=) NC_000011.10:66850878:G:A p.(Val756=) NC_000011.10:66850878:G:A Identity +NM_013444.4:c.1852C>T NP_038472.2:p.Leu618= NC_000023.11:56565724:C:T p.(Leu618=) NC_000023.11:56565724:C:T p.(Leu618=) NC_000023.11:56565724:C:T Identity +NM_001723.7:c.5685G>A NP_001714.1:p.Leu1895= NC_000006.12:56618348:C:T p.(Leu1895=) NC_000006.12:56618348:C:T p.(Leu1895=) NC_000006.12:56618348:C:T Identity +NM_001317195.3:c.1083G>A NP_001304124.1:p.Ala361= NC_000016.10:68682387:G:A p.(Ala361=) NC_000016.10:68682387:G:A p.(Ala361=) NC_000016.10:68682387:G:A Identity +NM_000051.4:c.5133C>G NP_000042.3:p.Thr1711= NC_000011.10:108299840:C:G p.(Thr1711=) NC_000011.10:108299840:C:G p.(Thr1711=) NC_000011.10:108299840:C:G Identity +NM_000321.3:c.6G>T NP_000312.2:p.Pro2= NC_000013.11:48303917:G:T p.(Pro2=) NC_000013.11:48303917:G:T p.(Pro2=) NC_000013.11:48303917:G:T Identity +NM_000057.4:c.789A>G NP_000048.1:p.Glu263= NC_000015.10:90750056:A:G p.(Glu263=) NC_000015.10:90750056:A:G p.(Glu263=) NC_000015.10:90750056:A:G Identity +NM_000059.4:c.9849T>A NP_000050.3:p.Val3283= NC_000013.11:32398361:T:A p.(Val3283=) NC_000013.11:32398361:T:A p.(Val3283=) NC_000013.11:32398361:T:A Identity +NM_000020.3:c.918G>C NP_000011.2:p.Ala306= NC_000012.12:51915369:G:C p.(Ala306=) NC_000012.12:51915369:G:C p.(Ala306=) NC_000012.12:51915369:G:C Identity +NM_000747.3:c.1437C>T NP_000738.2:p.Thr479= NC_000017.11:7456653:C:T p.(Thr479=) NC_000017.11:7456653:C:T p.(Thr479=) NC_000017.11:7456653:C:T Identity +NM_032951.3:c.1899G>A NP_116569.1:p.Pro633= NC_000007.14:73596402:C:T p.(Pro633=) NC_000007.14:73596402:C:T p.(Pro633=) NC_000007.14:73596402:C:T Identity +NM_001363813.1:c.1494C>T NP_001350742.1:p.Pro498= NC_000017.11:65537541:G:A p.(Pro498=) NC_000017.11:65537541:G:A p.(Pro498=) NC_000017.11:65537541:G:A Identity +NM_003922.4:c.5655T>C NP_003913.3:p.Thr1885= NC_000015.10:63693982:A:G p.(Thr1885=) NC_000015.10:63693982:A:G p.(Thr1885=) NC_000015.10:63693982:A:G Identity +NM_000626.4:c.468G>A NP_000617.1:p.Thr156= NC_000017.11:63929850:C:T p.(Thr156=) NC_000017.11:63929850:C:T p.(Thr156=) NC_000017.11:63929850:C:T Identity +NM_000942.5:c.9C>T NP_000933.1:p.Arg3= NC_000015.10:64162977:G:A p.(Arg3=) NC_000015.10:64162977:G:A p.(Arg3=) NC_000015.10:64162977:G:A Identity +NM_001256850.1:c.31209C>T NP_001243779.1:p.Phe10403= NC_000002.12:178688713:G:A p.(Phe10403=) NC_000002.12:178688713:G:A p.(Phe10403=) NC_000002.12:178688713:G:A Identity +NM_001351846.2:c.2505G>A NP_001338775.1:p.Ala835= NC_000016.10:1509926:G:A p.(Ala835=) NC_000016.10:1509926:G:A p.(Ala835=) NC_000016.10:1509926:G:A Identity +NM_005308.3:c.1239C>T NP_005299.1:p.Ser413= NC_000010.11:119443724:C:T p.(Ser413=) NC_000010.11:119443724:C:T p.(Ser413=) NC_000010.11:119443724:C:T Identity +NM_001083962.2:c.1174A>C NP_001077431.1:p.Arg392= NC_000018.10:55254672:T:G p.(Arg392=) NC_000018.10:55254672:T:G p.(Arg392=) NC_000018.10:55254672:T:G Identity +NM_000080.4:c.831C>T NP_000071.1:p.Ile277= NC_000017.11:4900878:G:A p.(Ile277=) NC_000017.11:4900878:G:A p.(Ile277=) NC_000017.11:4900878:G:A Identity +NM_001178078.2:c.948G>A NP_001171549.1:p.Val316= NC_000012.12:57105203:C:T p.(Val316=) NC_000012.12:57105203:C:T p.(Val316=) NC_000012.12:57105203:C:T Identity +NM_002439.5:c.195G>T NP_002430.3:p.Ala65= NC_000005.10:80654921:G:T p.(Ala65=) NC_000005.10:80654921:G:T p.(Ala65=) NC_000005.10:80654921:G:T Identity +NM_000360.4:c.579C>A NP_000351.2:p.Gly193= NC_000011.10:2167930:G:T p.(Gly193=) NC_000011.10:2167930:G:T p.(Gly193=) NC_000011.10:2167930:G:T Identity +NM_000038.6:c.7215T>C NP_000029.2:p.Asn2405= NC_000005.10:112842808:T:C p.(Asn2405=) NC_000005.10:112842808:T:C p.(Asn2405=) NC_000005.10:112842808:T:C Identity +NM_001128844.3:c.2142C>T NP_001122316.1:p.Val714= NC_000019.10:11010398:C:T p.(Val714=) NC_000019.10:11010398:C:T p.(Val714=) NC_000019.10:11010398:C:T Identity +NM_001257965.2:c.762C>T NP_001244894.1:p.Tyr254= NC_000001.11:197347459:C:T p.(Tyr254=) NC_000001.11:197347459:C:T p.(Tyr254=) NC_000001.11:197347459:C:T Identity +NM_014564.5:c.48C>G NP_055379.1:p.Gly16= NC_000009.12:136202991:G:C p.(Gly16=) NC_000009.12:136202991:G:C p.(Gly16=) NC_000009.12:136202991:G:C Identity +NM_005027.4:c.1215C>T NP_005018.2:p.Tyr405= NC_000019.10:18163071:C:T p.(Tyr405=) NC_000019.10:18163071:C:T p.(Tyr405=) NC_000019.10:18163071:C:T Identity +NM_001039885.3:c.522C>T NP_001034974.1:p.Ser174= NC_000019.10:46755971:C:T p.(Ser174=) NC_000019.10:46755971:C:T p.(Ser174=) NC_000019.10:46755971:C:T Identity +NM_001142763.2:c.1335G>A NP_001136235.1:p.Glu445= NC_000010.11:54185253:C:T p.(Glu445=) NC_000010.11:54185253:C:T p.(Glu445=) NC_000010.11:54185253:C:T Identity +NM_002439.5:c.2151T>C NP_002430.3:p.Asp717= NC_000005.10:80768900:T:C p.(Asp717=) NC_000005.10:80768900:T:C p.(Asp717=) NC_000005.10:80768900:T:C Identity +NM_001164277.2:c.171G>A NP_001157749.1:p.Ser57= NC_000011.10:119028403:C:T p.(Ser57=) NC_000011.10:119028403:C:T p.(Ser57=) NC_000011.10:119028403:C:T Identity +NM_000227.6:c.744G>A NP_000218.3:p.Leu248= NC_000018.10:23895015:G:A p.(Leu248=) NC_000018.10:23895015:G:A p.(Leu248=) NC_000018.10:23895015:G:A Identity +NM_001193640.2:c.1659T>C NP_001180569.1:p.Asn553= NC_000001.11:197421822:T:C p.(Asn553=) NC_000001.11:197421822:T:C p.(Asn553=) NC_000001.11:197421822:T:C Identity +NM_001382.4:c.879C>T NP_001373.2:p.Leu293= NC_000011.10:119097892:G:A p.(Leu293=) NC_000011.10:119097892:G:A p.(Leu293=) NC_000011.10:119097892:G:A Identity +NM_001365536.1:c.4959G>T NP_001352465.1:p.Leu1653= NC_000002.12:166199679:C:A p.(Leu1653=) NC_000002.12:166199679:C:A p.(Leu1653=) NC_000002.12:166199679:C:A Identity +NM_001168724.2:c.81C>T NP_001162195.1:p.Phe27= NC_000011.10:87038125:C:T p.(Phe27=) NC_000011.10:87038125:C:T p.(Phe27=) NC_000011.10:87038125:C:T Identity +NM_024529.5:c.393T>A NP_078805.3:p.Val131= NC_000001.11:193135558:T:A p.(Val131=) NC_000001.11:193135558:T:A p.(Val131=) NC_000001.11:193135558:T:A Identity +NM_001171930.2:c.2022C>T NP_001165401.1:p.Pro674= NC_000010.11:71687681:C:T p.(Pro674=) NC_000010.11:71687681:C:T p.(Pro674=) NC_000010.11:71687681:C:T Identity +NM_032888.4:c.141C>T NP_116277.2:p.Asp47= NC_000009.12:114167695:C:T p.(Asp47=) NC_000009.12:114167695:C:T p.(Asp47=) NC_000009.12:114167695:C:T Identity +NM_001033053.3:c.3000G>A NP_001028225.1:p.Thr1000= NC_000017.11:5533948:C:T p.(Thr1000=) NC_000017.11:5533948:C:T p.(Thr1000=) NC_000017.11:5533948:C:T Identity +NM_001291997.2:c.294A>G NP_001278926.1:p.Ala98= NC_000016.10:78424896:A:G p.(Ala98=) NC_000016.10:78424896:A:G p.(Ala98=) NC_000016.10:78424896:A:G Identity +NM_005732.4:c.270T>C NP_005723.2:p.Asn90= NC_000005.10:132575832:T:C p.(Asn90=) NC_000005.10:132575832:T:C p.(Asn90=) NC_000005.10:132575832:T:C Identity +NM_000546.6:c.867C>G NP_000537.3:p.Leu289= NC_000017.11:7673752:G:C p.(Leu289=) NC_000017.11:7673752:G:C p.(Leu289=) NC_000017.11:7673752:G:C Identity +NM_001306090.2:c.231G>A NP_001293019.1:p.Ser77= NC_000004.12:5719303:G:A p.(Ser77=) NC_000004.12:5719303:G:A p.(Ser77=) NC_000004.12:5719303:G:A Identity +NM_001077494.3:c.1938G>A NP_001070962.1:p.Glu646= NC_000010.11:102400793:G:A p.(Glu646=) NC_000010.11:102400793:G:A p.(Glu646=) NC_000010.11:102400793:G:A Identity +NM_001318067.1:c.606A>G NP_001304996.1:p.Thr202= NC_000004.12:86101175:T:C p.(Thr202=) NC_000004.12:86101175:T:C p.(Thr202=) NC_000004.12:86101175:T:C Identity +NM_001012720.2:c.106C>T NP_001012738.1:p.Leu36= NC_000010.11:84247616:C:T p.(Leu36=) NC_000010.11:84247616:C:T p.(Leu36=) NC_000010.11:84247616:C:T Identity +NM_181882.3:c.3294G>A NP_870998.2:p.Glu1098= NC_000019.10:40395057:C:T p.(Glu1098=) NC_000019.10:40395057:C:T p.(Glu1098=) NC_000019.10:40395057:C:T Identity +NM_001110792.2:c.1326C>T NP_001104262.1:p.Pro442= NC_000023.11:154030537:G:A p.(Pro442=) NC_000023.11:154030537:G:A p.(Pro442=) NC_000023.11:154030537:G:A Identity +NM_002485.5:c.228C>T NP_002476.2:p.Thr76= NC_000008.11:89981466:G:A p.(Thr76=) NC_000008.11:89981466:G:A p.(Thr76=) NC_000008.11:89981466:G:A Identity +NM_001166247.1:c.729A>G NP_001159719.1:p.Leu243= NC_000006.12:101682557:A:G p.(Leu243=) NC_000006.12:101682557:A:G p.(Leu243=) NC_000006.12:101682557:A:G Identity +NM_001122769.3:c.642C>T NP_001116241.1:p.His214= NC_000006.12:79513289:G:A p.(His214=) NC_000006.12:79513289:G:A p.(His214=) NC_000006.12:79513289:G:A Identity +NM_001142864.4:c.999C>T NP_001136336.2:p.Arg333= NC_000016.10:88737954:G:A p.(Arg333=) NC_000016.10:88737954:G:A p.(Arg333=) NC_000016.10:88737954:G:A Identity +NM_001011649.3:c.3015G>A NP_001011649.1:p.Thr1005= NC_000009.12:120447904:C:T p.(Thr1005=) NC_000009.12:120447904:C:T p.(Thr1005=) NC_000009.12:120447904:C:T Identity +NM_001082486.2:c.1293T>C NP_001075955.2:p.Ala431= NC_000016.10:67657766:A:G p.(Ala431=) NC_000016.10:67657766:A:G p.(Ala431=) NC_000016.10:67657766:A:G Identity +NM_014244.5:c.241A>C NP_055059.2:p.Arg81= NC_000005.10:179344059:T:G p.(Arg81=) NC_000005.10:179344059:T:G p.(Arg81=) NC_000005.10:179344059:T:G Identity +NM_001142800.2:c.5949C>T NP_001136272.1:p.Asn1983= NC_000006.12:64388818:G:A p.(Asn1983=) NC_000006.12:64388818:G:A p.(Asn1983=) NC_000006.12:64388818:G:A Identity +NM_001002019.3:c.756G>A NP_001002019.1:p.Ala252= NC_000012.12:131941586:G:A p.(Ala252=) NC_000012.12:131941586:G:A p.(Ala252=) NC_000012.12:131941586:G:A Identity +NM_001278689.2:c.1155T>G NP_001265618.1:p.Leu385= NC_000003.12:68982869:A:C p.(Leu385=) NC_000003.12:68982869:A:C p.(Leu385=) NC_000003.12:68982869:A:C Identity +NM_001048171.2:c.1494G>A NP_001041636.2:p.Gln498= NC_000001.11:45329377:C:T p.(Gln498=) NC_000001.11:45329377:C:T p.(Gln498=) NC_000001.11:45329377:C:T Identity +NM_001351059.2:c.1152T>C NP_001337988.1:p.Pro384= NC_000011.10:68049993:T:C p.(Pro384=) NC_000011.10:68049993:T:C p.(Pro384=) NC_000011.10:68049993:T:C Identity +NM_001351059.2:c.240C>T NP_001337988.1:p.Tyr80= NC_000011.10:68045070:C:T p.(Tyr80=) NC_000011.10:68045070:C:T p.(Tyr80=) NC_000011.10:68045070:C:T Identity +NM_003183.6:c.516C>A NP_003174.3:p.Ile172= NC_000002.12:9527888:G:T p.(Ile172=) NC_000002.12:9527888:G:T p.(Ile172=) NC_000002.12:9527888:G:T Identity +NM_000136.3:c.1053G>A NP_000127.2:p.Val351= NC_000009.12:95117333:C:T p.(Val351=) NC_000009.12:95117333:C:T p.(Val351=) NC_000009.12:95117333:C:T Identity +NM_000103.4:c.693A>C NP_000094.2:p.Pro231= NC_000015.10:51218590:T:G p.(Pro231=) NC_000015.10:51218590:T:G p.(Pro231=) NC_000015.10:51218590:T:G Identity +NM_001347828.2:c.2550C>T NP_001334757.1:p.Leu850= NC_000004.12:54285875:C:T p.(Leu850=) NC_000004.12:54285875:C:T p.(Leu850=) NC_000004.12:54285875:C:T Identity +NM_001122633.3:c.3303G>A NP_001116105.2:p.Val1101= NC_000002.12:210648023:G:A p.(Val1101=) NC_000002.12:210648023:G:A p.(Val1101=) NC_000002.12:210648023:G:A Identity +NM_032520.5:c.834C>T NP_115909.1:p.Asn278= NC_000016.10:1363006:C:T p.(Asn278=) NC_000016.10:1363006:C:T p.(Asn278=) NC_000016.10:1363006:C:T Identity +NM_001193640.2:c.1491G>A NP_001180569.1:p.Gln497= NC_000001.11:197421654:G:A p.(Gln497=) NC_000001.11:197421654:G:A p.(Gln497=) NC_000001.11:197421654:G:A Identity +NM_000082.4:c.9G>A NP_000073.1:p.Gly3= NC_000005.10:60944999:C:T p.(Gly3=) NC_000005.10:60944999:C:T p.(Gly3=) NC_000005.10:60944999:C:T Identity +NM_001160210.2:c.1347T>C NP_001153682.1:p.Pro449= NC_000007.14:96146663:A:G p.(Pro449=) NC_000007.14:96146663:A:G p.(Pro449=) NC_000007.14:96146663:A:G Identity +NM_001297764.2:c.408G>T NP_001284693.1:p.Arg136= NC_000011.10:17527310:C:A p.(Arg136=) NC_000011.10:17527310:C:A p.(Arg136=) NC_000011.10:17527310:C:A Identity +NM_001363813.1:c.249C>T NP_001350742.1:p.His83= NC_000017.11:65558371:G:A p.(His83=) NC_000017.11:65558371:G:A p.(His83=) NC_000017.11:65558371:G:A Identity +NM_000360.4:c.132C>T NP_000351.2:p.Asp44= NC_000011.10:2169829:G:A p.(Asp44=) NC_000011.10:2169829:G:A p.(Asp44=) NC_000011.10:2169829:G:A Identity +NM_001199954.3:c.222C>T NP_001186883.1:p.Gly74= NC_000017.11:81512043:G:A p.(Gly74=) NC_000017.11:81512043:G:A p.(Gly74=) NC_000017.11:81512043:G:A Identity +NM_012293.3:c.270A>G NP_036425.1:p.Thr90= NC_000002.12:1693064:T:C p.(Thr90=) NC_000002.12:1693064:T:C p.(Thr90=) NC_000002.12:1693064:T:C Identity +NM_030761.5:c.96G>A NP_110388.2:p.Ser32= NC_000001.11:22129832:C:T p.(Ser32=) NC_000001.11:22129832:C:T p.(Ser32=) NC_000001.11:22129832:C:T Identity +NM_001025107.3:c.960C>T NP_001020278.1:p.Pro320= NC_000001.11:154597916:G:A p.(Pro320=) NC_000001.11:154597916:G:A p.(Pro320=) NC_000001.11:154597916:G:A Identity +NM_005188.4:c.1959A>G NP_005179.2:p.Pro653= NC_000011.10:119287868:A:G p.(Pro653=) NC_000011.10:119287868:A:G p.(Pro653=) NC_000011.10:119287868:A:G Identity +NM_001160306.2:c.4389A>G NP_001153778.1:p.Ser1463= NC_000021.9:32631186:T:C p.(Ser1463=) NC_000021.9:32631186:T:C p.(Ser1463=) NC_000021.9:32631186:T:C Identity +NM_001130144.3:c.1350G>A NP_001123616.1:p.Ala450= NC_000011.10:65552152:C:T p.(Ala450=) NC_000011.10:65552152:C:T p.(Ala450=) NC_000011.10:65552152:C:T Identity +NM_001101362.3:c.984C>T NP_001094832.1:p.Asp328= NC_000015.10:65077798:C:T p.(Asp328=) NC_000015.10:65077798:C:T p.(Asp328=) NC_000015.10:65077798:C:T Identity +NM_005921.2:c.3783A>G NP_005912.1:p.Gln1261= NC_000005.10:56883642:A:G p.(Gln1261=) NC_000005.10:56883642:A:G p.(Gln1261=) NC_000005.10:56883642:A:G Identity +NM_021942.6:c.2937C>T NP_068761.4:p.Thr979= NC_000004.12:183701781:C:T p.(Thr979=) NC_000004.12:183701781:C:T p.(Thr979=) NC_000004.12:183701781:C:T Identity +NM_001256182.2:c.648C>T NP_001243111.1:p.Val216= NC_000016.10:89288623:G:A p.(Val216=) NC_000016.10:89288623:G:A p.(Val216=) NC_000016.10:89288623:G:A Identity +NM_003924.4:c.174T>G NP_003915.2:p.Pro58= NC_000004.12:41748436:A:C p.(Pro58=) NC_000004.12:41748436:A:C p.(Pro58=) NC_000004.12:41748436:A:C Identity +NM_005055.5:c.111G>A NP_005046.2:p.Ser37= NC_000011.10:47448853:C:T p.(Ser37=) NC_000011.10:47448853:C:T p.(Ser37=) NC_000011.10:47448853:C:T Identity +NM_001003722.2:c.1443A>G NP_001003722.1:p.Ala481= NC_000009.12:128533642:A:G p.(Ala481=) NC_000009.12:128533642:A:G p.(Ala481=) NC_000009.12:128533642:A:G Identity +NM_001127325.2:c.399C>T NP_001120797.1:p.Cys133= NC_000001.11:11676073:G:A p.(Cys133=) NC_000001.11:11676073:G:A p.(Cys133=) NC_000001.11:11676073:G:A Identity +NM_080657.5:c.12T>C NP_542388.2:p.Leu4= NC_000002.12:6877811:T:C p.(Leu4=) NC_000002.12:6877811:T:C p.(Leu4=) NC_000002.12:6877811:T:C Identity +NM_001282408.2:c.18T>C NP_001269337.1:p.Ser6= NC_000002.12:102340193:T:C p.(Ser6=) NC_000002.12:102340193:T:C p.(Ser6=) NC_000002.12:102340193:T:C Identity +NM_000030.3:c.840G>A NP_000021.1:p.Ala280= NC_000002.12:240875997:G:A p.(Ala280=) NC_000002.12:240875997:G:A p.(Ala280=) NC_000002.12:240875997:G:A Identity +NM_000128.4:c.453C>T NP_000119.1:p.Tyr151= NC_000004.12:186274242:C:T p.(Tyr151=) NC_000004.12:186274242:C:T p.(Tyr151=) NC_000004.12:186274242:C:T Identity +NM_001286445.3:c.2802C>T NP_001273374.1:p.Asn934= NC_000006.12:24825291:G:A p.(Asn934=) NC_000006.12:24825291:G:A p.(Asn934=) NC_000006.12:24825291:G:A Identity +NM_001098534.2:c.1305G>A NP_001092004.1:p.Pro435= NC_000006.12:31645009:C:T p.(Pro435=) NC_000006.12:31645009:C:T p.(Pro435=) NC_000006.12:31645009:C:T Identity +NM_001010872.3:c.339C>T NP_001010872.1:p.Pro113= NC_000006.12:54870584:C:T p.(Pro113=) NC_000006.12:54870584:C:T p.(Pro113=) NC_000006.12:54870584:C:T Identity +NM_001128636.4:c.1236C>T NP_001122108.1:p.Pro412= NC_000007.14:1745831:C:T p.(Pro412=) NC_000007.14:1745831:C:T p.(Pro412=) NC_000007.14:1745831:C:T Identity +NM_001371223.1:c.3510C>T NP_001358152.1:p.Thr1170= NC_000009.12:37745541:C:T p.(Thr1170=) NC_000009.12:37745541:C:T p.(Thr1170=) NC_000009.12:37745541:C:T Identity +NM_004962.5:c.912G>A NP_004953.1:p.Pro304= NC_000010.11:47310387:G:A p.(Pro304=) NC_000010.11:47310387:G:A p.(Pro304=) NC_000010.11:47310387:G:A Identity +NM_001244950.2:c.1149G>A NP_001231879.1:p.Ser383= NC_000010.11:72062885:C:T p.(Ser383=) NC_000010.11:72062885:C:T p.(Ser383=) NC_000010.11:72062885:C:T Identity +NM_014555.4:c.681C>T NP_055370.1:p.Cys227= NC_000011.10:2418559:G:A p.(Cys227=) NC_000011.10:2418559:G:A p.(Cys227=) NC_000011.10:2418559:G:A Identity +NM_001270622.2:c.105A>G NP_001257551.1:p.Ala35= NC_000012.12:59704905:A:G p.(Ala35=) NC_000012.12:59704905:A:G p.(Ala35=) NC_000012.12:59704905:A:G Identity +NM_001308160.2:c.2016G>A NP_001295089.1:p.Lys672= NC_000014.9:70978352:G:A p.(Lys672=) NC_000014.9:70978352:G:A p.(Lys672=) NC_000014.9:70978352:G:A Identity +NM_001010854.2:c.144C>T NP_001010854.1:p.Leu48= NC_000014.9:90786305:G:A p.(Leu48=) NC_000014.9:90786305:G:A p.(Leu48=) NC_000014.9:90786305:G:A Identity +NM_001324067.2:c.93C>G NP_001310996.1:p.Ala31= NC_000016.10:19521871:G:C p.(Ala31=) NC_000016.10:19521871:G:C p.(Ala31=) NC_000016.10:19521871:G:C Identity +NM_004218.4:c.357C>A NP_004209.2:p.Ile119= NC_000019.10:8402205:C:A p.(Ile119=) NC_000019.10:8402205:C:A p.(Ile119=) NC_000019.10:8402205:C:A Identity +NM_006392.4:c.1725G>A NP_006383.2:p.Ala575= NC_000020.11:2658233:G:A p.(Ala575=) NC_000020.11:2658233:G:A p.(Ala575=) NC_000020.11:2658233:G:A Identity +NM_004139.5:c.144A>G NP_004130.2:p.Leu48= NC_000020.11:38349566:A:G p.(Leu48=) NC_000020.11:38349566:A:G p.(Leu48=) NC_000020.11:38349566:A:G Identity +NM_001285394.2:c.12C>T NP_001272323.1:p.Ser4= NC_000021.9:32306721:C:T p.(Ser4=) NC_000021.9:32306721:C:T p.(Ser4=) NC_000021.9:32306721:C:T Identity +NM_015419.4:c.6468G>C NP_056234.2:p.Thr2156= NC_000023.11:3317212:C:G p.(Thr2156=) NC_000023.11:3317212:C:G p.(Thr2156=) NC_000023.11:3317212:C:G Identity +NM_001289002.2:c.609A>G NP_001275931.1:p.Gly203= NC_000005.10:102480183:T:C p.(Gly203=) NC_000005.10:102480183:T:C p.(Gly203=) NC_000005.10:102480183:T:C Identity +NM_001281734.2:c.465C>T NP_001268663.1:p.Asp155= NC_000014.9:73024043:G:A p.(Asp155=) NC_000014.9:73024043:G:A p.(Asp155=) NC_000014.9:73024043:G:A Identity +NM_000095.3:c.2152C>A NP_000086.2:p.Arg718= NC_000019.10:18783128:G:T p.(Arg718=) NC_000019.10:18783128:G:T p.(Arg718=) NC_000019.10:18783128:G:T Identity +NM_001256125.2:c.1269G>A NP_001243054.2:p.Ala423= NC_000001.11:203216963:C:T p.(Ala423=) NC_000001.11:203216963:C:T p.(Ala423=) NC_000001.11:203216963:C:T Identity +NM_001371302.1:c.1470G>A NP_001358231.1:p.Thr490= NC_000002.12:235042238:G:A p.(Thr490=) NC_000002.12:235042238:G:A p.(Thr490=) NC_000002.12:235042238:G:A Identity +NM_001371305.1:c.1515G>C NP_001358234.1:p.Leu505= NC_000002.12:235042283:G:C p.(Leu505=) NC_000002.12:235042283:G:C p.(Leu505=) NC_000002.12:235042283:G:C Identity +NM_004760.3:c.705T>C NP_004751.2:p.Leu235= NC_000007.14:43623584:T:C p.(Leu235=) NC_000007.14:43623584:T:C p.(Leu235=) NC_000007.14:43623584:T:C Identity +NM_014510.3:c.1125_1126insCAC NP_055325.2:p.Gln375_Thr376insHis NC_000007.14:83155515::GTG p.(Gln375_Thr376insHis) NC_000007.14:83155514:T:GTG p.(Gln375_Thr376insHis) NC_000007.14:83155515:TC:GTG Identity +NM_001320611.3:c.1152T>C NP_001307540.1:p.Ser384= NC_000017.11:68044058:T:C p.(Ser384=) NC_000017.11:68044058:T:C p.(Ser384=) NC_000017.11:68044058:T:C Identity +NM_001306089.2:c.1557C>T NP_001293018.1:p.Arg519= NC_000018.10:76895151:C:T p.(Arg519=) NC_000018.10:76895151:C:T p.(Arg519=) NC_000018.10:76895151:C:T Identity +NM_001321522.2:c.69G>A NP_001308451.1:p.Lys23= NC_000019.10:53345558:G:A p.(Lys23=) NC_000019.10:53345558:G:A p.(Lys23=) NC_000019.10:53345558:G:A Identity +NM_006690.4:c.768C>T NP_006681.1:p.Thr256= NC_000020.11:35254704:C:T p.(Thr256=) NC_000020.11:35254704:C:T p.(Thr256=) NC_000020.11:35254704:C:T Identity +NM_000154.2:c.1167G>A NP_000145.1:p.Val389= NC_000017.11:75758067:C:T p.(Val389=) NC_000017.11:75758067:C:T p.(Val389=) NC_000017.11:75758067:C:T Identity +NM_000489.6:c.3537C>T NP_000480.3:p.Val1179= NC_000023.11:77681718:G:A p.(Val1179=) NC_000023.11:77681718:G:A p.(Val1179=) NC_000023.11:77681718:G:A Identity +NM_001042467.3:c.1689C>T NP_001035932.1:p.Phe563= NC_000002.12:237552433:C:T p.(Phe563=) NC_000002.12:237552433:C:T p.(Phe563=) NC_000002.12:237552433:C:T Identity +NM_000319.5:c.1029G>A NP_000310.2:p.Leu343= NC_000012.12:7207744:G:A p.(Leu343=) NC_000012.12:7207744:G:A p.(Leu343=) NC_000012.12:7207744:G:A Identity +NM_001289174.2:c.972C>T NP_001276103.1:p.Asp324= NC_000006.12:33266664:G:A p.(Asp324=) NC_000006.12:33266664:G:A p.(Asp324=) NC_000006.12:33266664:G:A Identity +NM_001271849.2:c.15G>A NP_001258778.1:p.Gln5= NC_000011.10:67507591:C:T p.(Gln5=) NC_000011.10:67507591:C:T p.(Gln5=) NC_000011.10:67507591:C:T Identity +NM_001017919.2:c.378C>T NP_001017919.1:p.Ala126= NC_000015.10:90957323:C:T p.(Ala126=) NC_000015.10:90957323:C:T p.(Ala126=) NC_000015.10:90957323:C:T Identity +NM_001289117.2:c.273C>T NP_001276046.1:p.Ser91= NC_000019.10:3938693:C:T p.(Ser91=) NC_000019.10:3938693:C:T p.(Ser91=) NC_000019.10:3938693:C:T Identity +NM_002521.3:c.237C>T NP_002512.1:p.Ser79= NC_000001.11:11858364:G:A p.(Ser79=) NC_000001.11:11858364:G:A p.(Ser79=) NC_000001.11:11858364:G:A Identity +NM_001309192.2:c.2451A>G NP_001296121.1:p.Gln817= NC_000001.11:22910503:A:G p.(Gln817=) NC_000001.11:22910503:A:G p.(Gln817=) NC_000001.11:22910503:A:G Identity +NM_012327.6:c.2013G>A NP_036459.1:p.Gln671= NC_000018.10:62101138:C:T p.(Gln671=) NC_000018.10:62101138:C:T p.(Gln671=) NC_000018.10:62101138:C:T Identity +NM_001043.3:c.1779G>A NP_001034.1:p.Thr593= NC_000016.10:55701882:G:A p.(Thr593=) NC_000016.10:55701882:G:A p.(Thr593=) NC_000016.10:55701882:G:A Identity +NM_001193304.3:c.39C>T NP_001180233.1:p.Arg13= NC_000002.12:96265342:G:A p.(Arg13=) NC_000002.12:96265342:G:A p.(Arg13=) NC_000002.12:96265342:G:A Identity +NM_007217.4:c.213C>T NP_009148.2:p.Ser71= NC_000003.12:167697063:G:A p.(Ser71=) NC_000003.12:167697063:G:A p.(Ser71=) NC_000003.12:167697063:G:A Identity +NM_001352300.2:c.1155C>T NP_001339229.1:p.Ser385= NC_000022.11:19880645:G:A p.(Ser385=) NC_000022.11:19880645:G:A p.? NC_000022.11:19880645:G:A Identity +NM_033088.4:c.267G>A NP_149079.2:p.Thr89= NC_000001.11:110038698:G:A p.(Thr89=) NC_000001.11:110038698:G:A p.(Thr89=) NC_000001.11:110038698:G:A Identity +NM_001258437.1:c.525C>T NP_001245366.1:p.Tyr175= NC_000005.10:33455015:C:T p.(Tyr175=) NC_000005.10:33455015:C:T p.(Tyr175=) NC_000005.10:33455015:C:T Identity +NM_001036.6:c.2595A>G NP_001027.3:p.Leu865= NC_000015.10:33628490:A:G p.(Leu865=) NC_000015.10:33628490:A:G p.(Leu865=) NC_000015.10:33628490:A:G Identity +NM_001146702.2:c.1890C>T NP_001140174.1:p.Phe630= NC_000023.11:53199128:G:A p.(Phe630=) NC_000023.11:53199128:G:A p.(Phe630=) NC_000023.11:53199128:G:A Identity +NM_001288725.2:c.15A>C NP_001275654.1:p.Ala5= NC_000011.10:31509798:A:C p.(Ala5=) NC_000011.10:31509798:A:C p.(Ala5=) NC_000011.10:31509798:A:C Identity +NM_015662.3:c.1893G>A NP_056477.1:p.Leu631= NC_000002.12:27465454:C:T p.(Leu631=) NC_000002.12:27465454:C:T p.(Leu631=) NC_000002.12:27465454:C:T Identity +NM_001290048.2:c.252G>A NP_001276977.1:p.Pro84= NC_000011.10:63658859:C:T p.(Pro84=) NC_000011.10:63658859:C:T p.(Pro84=) NC_000011.10:63658859:C:T Identity +NM_001166136.2:c.2331C>T NP_001159608.1:p.Gly777= NC_000004.12:5618612:G:A p.(Gly777=) NC_000004.12:5618612:G:A p.(Gly777=) NC_000004.12:5618612:G:A Identity +NM_001378923.1:c.1236G>A NP_001365852.1:p.Ser412= NC_000009.12:35800725:G:A p.(Ser412=) NC_000009.12:35800725:G:A p.(Ser412=) NC_000009.12:35800725:G:A Identity +NM_015512.5:c.9588G>A NP_056327.4:p.Thr3196= NC_000003.12:52389552:G:A p.(Thr3196=) NC_000003.12:52389552:G:A p.(Thr3196=) NC_000003.12:52389552:G:A Identity +NM_000170.3:c.51G>T NP_000161.2:p.Gly17= NC_000009.12:6645448:C:A p.(Gly17=) NC_000009.12:6645448:C:A p.(Gly17=) NC_000009.12:6645448:C:A Identity +NM_000445.5:c.5787G>A NP_000436.2:p.Ser1929= NC_000008.11:143924222:C:T p.(Ser1929=) NC_000008.11:143924222:C:T p.(Ser1929=) NC_000008.11:143924222:C:T Identity +NM_032043.3:c.2523T>C NP_114432.2:p.Ala841= NC_000017.11:61693481:A:G p.(Ala841=) NC_000017.11:61693481:A:G p.(Ala841=) NC_000017.11:61693481:A:G Identity +NM_000553.6:c.3483A>T NP_000544.2:p.Val1161= NC_000008.11:31147386:A:T p.(Val1161=) NC_000008.11:31147386:A:T p.(Val1161=) NC_000008.11:31147386:A:T Identity +NM_001347701.2:c.903C>T NP_001334630.1:p.Ile301= NC_000006.12:152151973:G:A p.(Ile301=) NC_000006.12:152151973:G:A p.(Ile301=) NC_000006.12:152151973:G:A Identity +NM_007129.5:c.879C>T NP_009060.2:p.Gly293= NC_000013.11:99982942:C:T p.(Gly293=) NC_000013.11:99982942:C:T p.(Gly293=) NC_000013.11:99982942:C:T Identity +NM_006172.4:c.24C>T NP_006163.1:p.Thr8= NC_000001.11:11847660:G:A p.(Thr8=) NC_000001.11:11847660:G:A p.(Thr8=) NC_000001.11:11847660:G:A Identity +NM_001034850.3:c.852C>T NP_001030022.1:p.Asp284= NC_000005.10:16478054:G:A p.(Asp284=) NC_000005.10:16478054:G:A p.(Asp284=) NC_000005.10:16478054:G:A Identity +NM_001256063.2:c.813G>A NP_001242992.1:p.Pro271= NC_000012.12:40933705:G:A p.(Pro271=) NC_000012.12:40933705:G:A p.(Pro271=) NC_000012.12:40933705:G:A Identity +NM_000445.5:c.4368G>A NP_000436.2:p.Ser1456= NC_000008.11:143925641:C:T p.(Ser1456=) NC_000008.11:143925641:C:T p.(Ser1456=) NC_000008.11:143925641:C:T Identity +NM_001130144.3:c.3519A>G NP_001123616.1:p.Gln1173= NC_000011.10:65539747:T:C p.(Gln1173=) NC_000011.10:65539747:T:C p.(Gln1173=) NC_000011.10:65539747:T:C Identity +NM_001126240.3:c.588G>A NP_001119712.1:p.Val196= NC_000001.11:3727116:G:A p.(Val196=) NC_000001.11:3727116:G:A p.(Val196=) NC_000001.11:3727116:G:A Identity +NM_001281463.1:c.1035G>A NP_001268392.1:p.Leu345= NC_000023.11:53412006:C:T p.(Leu345=) NC_000023.11:53412006:C:T p.(Leu345=) NC_000023.11:53412006:C:T Identity +NM_001130145.3:c.465C>G NP_001123617.1:p.Pro155= NC_000011.10:102114286:C:G p.(Pro155=) NC_000011.10:102114286:C:G p.(Pro155=) NC_000011.10:102114286:C:G Identity +NM_001102.4:c.1410C>T NP_001093.1:p.Pro470= NC_000014.9:68884858:G:A p.(Pro470=) NC_000014.9:68884858:G:A p.(Pro470=) NC_000014.9:68884858:G:A Identity +NM_001317214.3:c.84A>G NP_001304143.1:p.Glu28= NC_000018.10:65762925:A:G p.(Glu28=) NC_000018.10:65762925:A:G p.(Glu28=) NC_000018.10:65762925:A:G Identity +NM_001354263.2:c.3270G>A NP_001341192.1:p.Ala1090= NC_000009.12:137815978:G:A p.(Ala1090=) NC_000009.12:137815978:G:A p.(Ala1090=) NC_000009.12:137815978:G:A Identity +NM_000626.4:c.645A>G NP_000617.1:p.Thr215= NC_000017.11:63929270:T:C p.(Thr215=) NC_000017.11:63929270:T:C p.(Thr215=) NC_000017.11:63929270:T:C Identity +NM_173483.4:c.66C>T NP_775754.2:p.Tyr22= NC_000019.10:15525401:C:T p.(Tyr22=) NC_000019.10:15525401:C:T p.(Tyr22=) NC_000019.10:15525401:C:T Identity +NM_001113511.2:c.1522T>C NP_001106983.1:p.Leu508= NC_000013.11:111277625:T:C p.(Leu508=) NC_000013.11:111277625:T:C p.(Leu508=) NC_000013.11:111277625:T:C Identity +NM_001256599.2:c.1314C>T NP_001243528.1:p.His438= NC_000001.11:155179728:C:T p.(His438=) NC_000001.11:155179728:C:T p.(His438=) NC_000001.11:155179728:C:T Identity +NM_001080414.4:c.2640G>A NP_001073883.2:p.Arg880= NC_000014.9:91313175:C:T p.(Arg880=) NC_000014.9:91313175:C:T p.(Arg880=) NC_000014.9:91313175:C:T Identity +NM_001197297.2:c.537C>T NP_001184226.1:p.Arg179= NC_000021.9:25752217:C:T p.(Arg179=) NC_000021.9:25752217:C:T p.(Arg179=) NC_000021.9:25752217:C:T Identity +NM_001135659.3:c.1329A>G NP_001129131.1:p.Glu443= NC_000002.12:50620132:T:C p.(Glu443=) NC_000002.12:50620132:T:C p.(Glu443=) NC_000002.12:50620132:T:C Identity +NM_001271933.2:c.696C>T NP_001258862.1:p.His232= NC_000011.10:117363436:C:T p.(His232=) NC_000011.10:117363436:C:T p.(His232=) NC_000011.10:117363436:C:T Identity +NM_004958.4:c.396T>G NP_004949.1:p.Arg132= NC_000001.11:11257040:A:C p.(Arg132=) NC_000001.11:11257040:A:C p.(Arg132=) NC_000001.11:11257040:A:C Identity +NM_000158.4:c.1000= NP_000149.4:p.Ile334= NC_000003.12:81594015:T:T p.(Ile334=) NC_000003.12:81594015:T: p.(Ile334=) NC_000003.12:81594015:T:T Identity +NM_203434.3:c.780C>T NP_982258.2:p.Asp260= NC_000009.12:129177272:G:A p.(Asp260=) NC_000009.12:129177272:G:A p.(Asp260=) NC_000009.12:129177272:G:A Identity +NM_004491.5:c.3492G>T NP_004482.4:p.Arg1164= NC_000019.10:46922166:G:T p.(Arg1164=) NC_000019.10:46922166:G:T p.(Arg1164=) NC_000019.10:46922166:G:T Identity +NM_001290046.2:c.1725T>C NP_001276975.1:p.His575= NC_000022.11:17542356:T:C p.(His575=) NC_000022.11:17542356:T:C p.(His575=) NC_000022.11:17542356:T:C Identity +NM_000445.5:c.8625C>T NP_000436.2:p.Asp2875= NC_000008.11:143921276:G:A p.(Asp2875=) NC_000008.11:143921276:G:A p.(Asp2875=) NC_000008.11:143921276:G:A Identity +NM_001184985.2:c.33C>T NP_001171914.1:p.Ser11= NC_000012.12:753597:C:T p.(Ser11=) NC_000012.12:753597:C:T p.(Ser11=) NC_000012.12:753597:C:T Identity +NM_001255982.2:c.294C>T NP_001242911.1:p.Ile98= NC_000002.12:3643480:C:T p.(Ile98=) NC_000002.12:3643480:C:T p.(Ile98=) NC_000002.12:3643480:C:T Identity +NM_001032280.3:c.402C>T NP_001027451.1:p.Leu134= NC_000006.12:10409960:G:A p.(Leu134=) NC_000006.12:10409960:G:A p.(Leu134=) NC_000006.12:10409960:G:A Identity +NM_001195010.2:c.621C>G NP_001181939.1:p.Leu207= NC_000001.11:24337707:C:G p.(Leu207=) NC_000001.11:24337707:C:G p.(Leu207=) NC_000001.11:24337707:C:G Identity +NM_014641.3:c.3672C>A NP_055456.2:p.Thr1224= NC_000006.12:30705510:G:T p.(Thr1224=) NC_000006.12:30705510:G:T p.(Thr1224=) NC_000006.12:30705510:G:T Identity +NM_173086.5:c.951C>T NP_775109.2:p.Ser317= NC_000012.12:52471257:G:A p.(Ser317=) NC_000012.12:52471257:G:A p.(Ser317=) NC_000012.12:52471257:G:A Identity +NM_001270975.2:c.510A>G NP_001257904.1:p.Ala170= NC_000016.10:71921410:A:G p.(Ala170=) NC_000016.10:71921410:A:G p.(Ala170=) NC_000016.10:71921410:A:G Identity +NM_001351273.1:c.256C>T NP_001338202.1:p.Leu86= NC_000019.10:1453453:C:T p.(Leu86=) NC_000019.10:1453453:C:T p.(Leu86=) NC_000019.10:1453453:C:T Identity +NM_001098623.2:c.18429G>A NP_001092093.2:p.Lys6143= NC_000001.11:228351329:G:A p.(Lys6143=) NC_000001.11:228351329:G:A p.(Lys6143=) NC_000001.11:228351329:G:A Identity +NM_194302.4:c.5442C>T NP_919278.2:p.Ile1814= NC_000002.12:219004064:G:A p.(Ile1814=) NC_000002.12:219004064:G:A p.(Ile1814=) NC_000002.12:219004064:G:A Identity +NM_001004019.2:c.2121C>T NP_001004019.1:p.Gly707= NC_000003.12:13619796:C:T p.(Gly707=) NC_000003.12:13619796:C:T p.(Gly707=) NC_000003.12:13619796:C:T Identity +NM_001100594.2:c.21G>T NP_001094064.1:p.Gly7= NC_000003.12:43303223:G:T p.(Gly7=) NC_000003.12:43303223:G:T p.(Gly7=) NC_000003.12:43303223:G:T Identity +NM_001308077.4:c.66C>A NP_001295006.1:p.Pro22= NC_000003.12:186640525:C:A p.(Pro22=) NC_000003.12:186640525:C:A p.(Pro22=) NC_000003.12:186640525:C:A Identity +NM_001289135.3:c.1056C>T NP_001276064.1:p.Arg352= NC_000004.12:20511122:C:T p.(Arg352=) NC_000004.12:20511122:C:T p.(Arg352=) NC_000004.12:20511122:C:T Identity +NM_001128933.3:c.3171A>C NP_001122405.1:p.Pro1057= NC_000004.12:119031945:A:C p.(Pro1057=) NC_000004.12:119031945:A:C p.(Pro1057=) NC_000004.12:119031945:A:C Identity +NM_153610.5:c.8424G>A NP_705838.3:p.Pro2808= NC_000005.10:79737188:G:A p.(Pro2808=) NC_000005.10:79737188:G:A p.(Pro2808=) NC_000005.10:79737188:G:A Identity +NM_001290321.3:c.36C>T NP_001277250.1:p.Asn12= NC_000005.10:119071604:C:T p.(Asn12=) NC_000005.10:119071604:C:T p.(Asn12=) NC_000005.10:119071604:C:T Identity +NM_002187.3:c.669C>T NP_002178.2:p.Tyr223= NC_000005.10:159320333:G:A p.(Tyr223=) NC_000005.10:159320333:G:A p.(Tyr223=) NC_000005.10:159320333:G:A Identity +NM_001003698.4:c.2343C>T NP_001003698.1:p.Gly781= NC_000006.12:7230441:C:T p.(Gly781=) NC_000006.12:7230441:C:T p.(Gly781=) NC_000006.12:7230441:C:T Identity +NM_001135648.3:c.1560C>T NP_001129120.1:p.Ile520= NC_000006.12:128083729:G:A p.(Ile520=) NC_000006.12:128083729:G:A p.(Ile520=) NC_000006.12:128083729:G:A Identity +NM_001037763.3:c.240A>G NP_001032852.2:p.Gln80= NC_000007.14:7531788:T:C p.(Gln80=) NC_000007.14:7531788:T:C p.(Gln80=) NC_000007.14:7531788:T:C Identity +NM_001363185.1:c.2685T>C NP_001350114.1:p.Asp895= NC_000008.11:112650278:A:G p.(Asp895=) NC_000008.11:112650278:A:G p.(Asp895=) NC_000008.11:112650278:A:G Identity +NM_001363185.1:c.1104C>T NP_001350114.1:p.Ile368= NC_000008.11:112947803:G:A p.(Ile368=) NC_000008.11:112947803:G:A p.(Ile368=) NC_000008.11:112947803:G:A Identity +NM_002160.4:c.945C>T NP_002151.2:p.Cys315= NC_000009.12:115086785:G:A p.(Cys315=) NC_000009.12:115086785:G:A p.(Cys315=) NC_000009.12:115086785:G:A Identity +NM_001014437.3:c.1887C>T NP_001014437.1:p.Asn629= NC_000011.10:3017135:G:A p.(Asn629=) NC_000011.10:3017135:G:A p.(Asn629=) NC_000011.10:3017135:G:A Identity +NM_001329700.2:c.894C>T NP_001316629.1:p.Asn298= NC_000012.12:95713308:G:A p.(Asn298=) NC_000012.12:95713308:G:A p.(Asn298=) NC_000012.12:95713308:G:A Identity +NM_015409.5:c.1779G>A NP_056224.3:p.Pro593= NC_000012.12:131982327:G:A p.(Pro593=) NC_000012.12:131982327:G:A p.(Pro593=) NC_000012.12:131982327:G:A Identity +NM_001033088.3:c.273A>C NP_001028260.2:p.Ile91= NC_000015.10:90266395:A:C p.(Ile91=) NC_000015.10:90266395:A:C p.(Ile91=) NC_000015.10:90266395:A:C Identity +NM_005425.5:c.129C>A NP_005416.1:p.Gly43= NC_000016.10:11269133:G:T p.(Gly43=) NC_000016.10:11269133:G:T p.(Gly43=) NC_000016.10:11269133:G:T Identity +NM_001080430.4:c.1149C>T NP_001073899.2:p.Ile383= NC_000016.10:52439806:G:A p.(Ile383=) NC_000016.10:52439806:G:A p.(Ile383=) NC_000016.10:52439806:G:A Identity +NM_030625.3:c.5904G>A NP_085128.2:p.Glu1968= NC_000010.11:68691306:G:A p.(Glu1968=) NC_000010.11:68691306:G:A p.(Glu1968=) NC_000010.11:68691306:G:A Identity +NM_015286.6:c.2196C>T NP_056101.5:p.Leu732= NC_000015.10:99130555:C:T p.(Leu732=) NC_000015.10:99130555:C:T p.(Leu732=) NC_000015.10:99130555:C:T Identity +NM_001297549.2:c.2280C>T NP_001284478.1:p.Tyr760= NC_000019.10:18860384:C:T p.(Tyr760=) NC_000019.10:18860384:C:T p.(Tyr760=) NC_000019.10:18860384:C:T Identity +NM_001199579.2:c.2091G>A NP_001186508.1:p.Thr697= NC_000022.11:38738184:C:T p.(Thr697=) NC_000022.11:38738184:C:T p.(Thr697=) NC_000022.11:38738184:C:T Identity +NM_001122951.3:c.720G>A NP_001116423.1:p.Gly240= NC_000001.11:159206152:G:A p.(Gly240=) NC_000001.11:159206152:G:A p.(Gly240=) NC_000001.11:159206152:G:A Identity +NM_001961.4:c.1668C>A NP_001952.1:p.Ile556= NC_000019.10:3979373:G:T p.(Ile556=) NC_000019.10:3979373:G:T p.(Ile556=) NC_000019.10:3979373:G:T Identity +NM_001005191.3:c.924C>T NP_001005191.1:p.Ala308= NC_000019.10:9213913:G:A p.(Ala308=) NC_000019.10:9213913:G:A p.(Ala308=) NC_000019.10:9213913:G:A Identity +NM_004245.4:c.1740C>T NP_004236.1:p.Leu580= NC_000015.10:43233576:G:A p.(Leu580=) NC_000015.10:43233576:G:A p.(Leu580=) NC_000015.10:43233576:G:A Identity +NM_001961.4:c.1137C>T NP_001952.1:p.Asp379= NC_000019.10:3980853:G:A p.(Asp379=) NC_000019.10:3980853:G:A p.(Asp379=) NC_000019.10:3980853:G:A Identity +NM_139284.3:c.630G>A NP_644813.1:p.Glu210= NC_000019.10:35127015:C:T p.(Glu210=) NC_000019.10:35127015:C:T p.(Glu210=) NC_000019.10:35127015:C:T Identity +NM_013329.4:c.2163A>C NP_037461.2:p.Val721= NC_000021.9:32744818:T:G p.(Val721=) NC_000021.9:32744818:T:G p.(Val721=) NC_000021.9:32744818:T:G Identity +NM_001270411.2:c.618T>C NP_001257340.2:p.Pro206= NC_000022.11:38989504:T:C p.(Pro206=) NC_000022.11:38989504:T:C p.(Pro206=) NC_000022.11:38989504:T:C Identity +NM_001003828.3:c.1143C>T NP_001003828.1:p.Ser381= NC_000022.11:44168626:C:T p.(Ser381=) NC_000022.11:44168626:C:T p.(Ser381=) NC_000022.11:44168626:C:T Identity +NM_001167890.2:c.348C>T NP_001161362.1:p.Tyr116= NC_000023.11:13600041:C:T p.(Tyr116=) NC_000023.11:13600041:C:T p.(Tyr116=) NC_000023.11:13600041:C:T Identity +NM_001195563.2:c.198T>C NP_001182492.1:p.Ser66= NC_000001.11:6825173:T:C p.(Ser66=) NC_000001.11:6825173:T:C p.(Ser66=) NC_000001.11:6825173:T:C Identity +NM_001367934.1:c.1794C>T NP_001354863.1:p.Asn598= NC_000001.11:154343546:C:T p.(Asn598=) NC_000001.11:154343546:C:T p.(Asn598=) NC_000001.11:154343546:C:T Identity +NM_001692.4:c.582T>C NP_001683.2:p.Asn194= NC_000002.12:70960074:T:C p.(Asn194=) NC_000002.12:70960074:T:C p.(Asn194=) NC_000002.12:70960074:T:C Identity +NM_001386065.1:c.298C>T NP_001372994.1:p.Leu100= NC_000007.14:104329076:C:T p.(Leu100=) NC_000007.14:104329076:C:T p.(Leu100=) NC_000007.14:104329076:C:T Identity +NM_012334.3:c.4107G>A NP_036466.2:p.Pro1369= NC_000005.10:16681952:C:T p.(Pro1369=) NC_000005.10:16681952:C:T p.(Pro1369=) NC_000005.10:16681952:C:T Identity +NM_001284259.2:c.3792C>T NP_001271188.1:p.Leu1264= NC_000010.11:89738972:C:T p.(Leu1264=) NC_000010.11:89738972:C:T p.(Leu1264=) NC_000010.11:89738972:C:T Identity +NM_001012969.4:c.714C>T NP_001012987.1:p.Ser238= NC_000015.10:43348986:C:T p.(Ser238=) NC_000015.10:43348986:C:T p.(Ser238=) NC_000015.10:43348986:C:T Identity +NM_173086.5:c.1353G>A NP_775109.2:p.Leu451= NC_000012.12:52469740:C:T p.(Leu451=) NC_000012.12:52469740:C:T p.(Leu451=) NC_000012.12:52469740:C:T Identity +NM_001135642.2:c.948C>T NP_001129114.1:p.Asn316= NC_000017.11:1496327:G:A p.(Asn316=) NC_000017.11:1496327:G:A p.(Asn316=) NC_000017.11:1496327:G:A Identity +NM_001256264.2:c.3435C>T NP_001243193.1:p.Asp1145= NC_000017.11:18245778:G:A p.(Asp1145=) NC_000017.11:18245778:G:A p.(Asp1145=) NC_000017.11:18245778:G:A Identity +NM_001033576.2:c.1665G>T NP_001028748.1:p.Leu555= NC_000017.11:35170230:G:T p.(Leu555=) NC_000017.11:35170230:G:T p.(Leu555=) NC_000017.11:35170230:G:T Identity +NM_014572.3:c.2466C>G NP_055387.2:p.Ser822= NC_000013.11:20983239:G:C p.(Ser822=) NC_000013.11:20983239:G:C p.(Ser822=) NC_000013.11:20983239:G:C Identity +NM_015352.2:c.1158C>T NP_056167.1:p.Asp386= NC_000020.11:32234651:C:T p.(Asp386=) NC_000020.11:32234651:C:T p.(Asp386=) NC_000020.11:32234651:C:T Identity +NM_001145128.3:c.4650T>C NP_001138600.2:p.Asn1550= NC_000006.12:109506525:A:G p.(Asn1550=) NC_000006.12:109506525:A:G p.(Asn1550=) NC_000006.12:109506525:A:G Identity +NM_018944.3:c.453G>A NP_061817.1:p.Val151= NC_000021.9:32270477:C:T p.(Val151=) NC_000021.9:32270477:C:T p.(Val151=) NC_000021.9:32270477:C:T Identity +NM_005559.4:c.3615C>T NP_005550.2:p.Ala1205= NC_000018.10:7011371:G:A p.(Ala1205=) NC_000018.10:7011371:G:A p.(Ala1205=) NC_000018.10:7011371:G:A Identity +NM_001353765.2:c.966G>A NP_001340694.1:p.Pro322= NC_000002.12:29193916:C:T p.(Pro322=) NC_000002.12:29193916:C:T p.(Pro322=) NC_000002.12:29193916:C:T Identity +NM_004922.4:c.2988C>T NP_004913.2:p.Ser996= NC_000010.11:73770404:C:T p.(Ser996=) NC_000010.11:73770404:C:T p.(Ser996=) NC_000010.11:73770404:C:T Identity +NM_001030015.3:c.1353C>G NP_001025186.1:p.Leu451= NC_000010.11:86663723:C:G p.(Leu451=) NC_000010.11:86663723:C:G p.(Leu451=) NC_000010.11:86663723:C:G Identity +NM_025235.4:c.2475C>T NP_079511.1:p.Leu825= NC_000010.11:91848498:C:T p.(Leu825=) NC_000010.11:91848498:C:T p.(Leu825=) NC_000010.11:91848498:C:T Identity +NM_001346432.2:c.1710A>G NP_001333361.1:p.Leu570= NC_000011.10:27368940:T:C p.(Leu570=) NC_000011.10:27368940:T:C p.(Leu570=) NC_000011.10:27368940:T:C Identity +NM_002487.3:c.51C>A NP_002478.1:p.Ala17= NC_000015.10:23687166:G:T p.(Ala17=) NC_000015.10:23687166:G:T p.(Ala17=) NC_000015.10:23687166:G:T Identity +NM_001401501.2:c.27150C>T NP_001388430.1:p.Ser9050= NC_000019.10:8949739:G:A p.(Ser9050=) NC_000019.10:8949739:G:A p.(Ser9050=) NC_000019.10:8949739:G:A Identity +NM_001168298.2:c.669A>G NP_001161770.1:p.Pro223= NC_000002.12:218135469:A:G p.(Pro223=) NC_000002.12:218135469:A:G p.(Pro223=) NC_000002.12:218135469:A:G Identity +NM_001220488.2:c.1557C>T NP_001207417.1:p.Asn519= NC_000016.10:83678338:C:T p.(Asn519=) NC_000016.10:83678338:C:T p.(Asn519=) NC_000016.10:83678338:C:T Identity +NM_004422.3:c.951T>C NP_004413.1:p.Leu317= NC_000017.11:7229140:A:G p.(Leu317=) NC_000017.11:7229140:A:G p.(Leu317=) NC_000017.11:7229140:A:G Identity +NM_001849.4:c.1767C>T NP_001840.3:p.Leu589= NC_000021.9:46124916:C:T p.(Leu589=) NC_000021.9:46124916:C:T p.(Leu589=) NC_000021.9:46124916:C:T Identity +NM_015382.4:c.4479A>G NP_056197.3:p.Ser1493= NC_000014.9:31128891:T:C p.(Ser1493=) NC_000014.9:31128891:T:C p.(Ser1493=) NC_000014.9:31128891:T:C Identity +NM_001005407.2:c.43C>T NP_001005407.1:p.Leu15= NC_000016.10:1153779:C:T p.(Leu15=) NC_000016.10:1153779:C:T p.(Leu15=) NC_000016.10:1153779:C:T Identity +NM_015559.3:c.2500C>T NP_056374.2:p.Leu834= NC_000018.10:44951839:C:T p.(Leu834=) NC_000018.10:44951839:C:T p.(Leu834=) NC_000018.10:44951839:C:T Identity +NM_000810.4:c.1191G>A NP_000801.1:p.Thr397= NC_000015.10:26948034:G:A p.(Thr397=) NC_000015.10:26948034:G:A p.(Thr397=) NC_000015.10:26948034:G:A Identity +NM_000360.4:c.225G>A NP_000351.2:p.Glu75= NC_000011.10:2169736:C:T p.(Glu75=) NC_000011.10:2169736:C:T p.(Glu75=) NC_000011.10:2169736:C:T Identity +NM_006545.5:c.1140G>A NP_006536.3:p.Lys380= NC_000003.12:50347608:C:T p.(Lys380=) NC_000003.12:50347608:C:T p.(Lys380=) NC_000003.12:50347608:C:T Identity +NM_001036.6:c.4569G>A NP_001027.3:p.Val1523= NC_000015.10:33660369:G:A p.(Val1523=) NC_000015.10:33660369:G:A p.(Val1523=) NC_000015.10:33660369:G:A Identity +NM_005857.5:c.1338T>C NP_005848.2:p.Pro446= NC_000001.11:40292578:T:C p.(Pro446=) NC_000001.11:40292578:T:C p.(Pro446=) NC_000001.11:40292578:T:C Identity +NM_018013.4:c.2463G>C NP_060483.3:p.Leu821= NC_000006.12:107635306:G:C p.(Leu821=) NC_000006.12:107635306:G:C p.(Leu821=) NC_000006.12:107635306:G:C Identity +NM_001369760.1:c.171C>T NP_001356689.1:p.Asp57= NC_000012.12:71139800:G:A p.(Asp57=) NC_000012.12:71139800:G:A p.(Asp57=) NC_000012.12:71139800:G:A Identity +NM_014918.5:c.534A>G NP_055733.2:p.Gly178= NC_000015.10:101235363:T:C p.(Gly178=) NC_000015.10:101235363:T:C p.(Gly178=) NC_000015.10:101235363:T:C Identity +NM_001370248.1:c.414C>T NP_001357177.1:p.Ala138= NC_000018.10:74508885:C:T p.(Ala138=) NC_000018.10:74508885:C:T p.(Ala138=) NC_000018.10:74508885:C:T Identity +NM_001304815.2:c.3504C>T NP_001291744.1:p.Ala1168= NC_000019.10:42287820:C:T p.(Ala1168=) NC_000019.10:42287820:C:T p.(Ala1168=) NC_000019.10:42287820:C:T Identity +NM_206933.4:c.7428C>T NP_996816.3:p.Gly2476= NC_000001.11:215900777:G:A p.(Gly2476=) NC_000001.11:215900777:G:A p.(Gly2476=) NC_000001.11:215900777:G:A Identity +NM_001618.4:c.1245C>T NP_001609.2:p.Leu415= NC_000001.11:226381122:G:A p.(Leu415=) NC_000001.11:226381122:G:A p.(Leu415=) NC_000001.11:226381122:G:A Identity +NM_001146312.3:c.2739G>A NP_001139784.1:p.Gln913= NC_000017.11:12763421:G:A p.(Gln913=) NC_000017.11:12763421:G:A p.(Gln913=) NC_000017.11:12763421:G:A Identity +NM_001145716.2:c.1041G>A NP_001139188.1:p.Gly347= NC_000006.12:36302383:G:A p.(Gly347=) NC_000006.12:36302383:G:A p.(Gly347=) NC_000006.12:36302383:G:A Identity +NM_033225.6:c.6531G>A NP_150094.5:p.Thr2177= NC_000008.11:3110234:C:T p.(Thr2177=) NC_000008.11:3110234:C:T p.(Thr2177=) NC_000008.11:3110234:C:T Identity +NM_001288729.2:c.1209G>A NP_001275658.1:p.Ser403= NC_000009.12:87646537:G:A p.(Ser403=) NC_000009.12:87646537:G:A p.(Ser403=) NC_000009.12:87646537:G:A Identity +NM_001134.3:c.1335G>A NP_001125.1:p.Ser445= NC_000004.12:73450659:G:A p.(Ser445=) NC_000004.12:73450659:G:A p.(Ser445=) NC_000004.12:73450659:G:A Identity +NM_007030.3:c.171C>T NP_008961.1:p.Arg57= NC_000005.10:677889:G:A p.(Arg57=) NC_000005.10:677889:G:A p.(Arg57=) NC_000005.10:677889:G:A Identity +NM_025138.5:c.2412C>T NP_079414.3:p.Pro804= NC_000013.11:39012839:G:A p.(Pro804=) NC_000013.11:39012839:G:A p.(Pro804=) NC_000013.11:39012839:G:A Identity +NM_001368319.1:c.1098G>A NP_001355248.1:p.Pro366= NC_000015.10:32629754:G:A p.(Pro366=) NC_000015.10:32629754:G:A p.(Pro366=) NC_000015.10:32629754:G:A Identity +NM_000339.3:c.3051C>T NP_000330.3:p.Ile1017= NC_000016.10:56913362:C:T p.(Ile1017=) NC_000016.10:56913362:C:T p.(Ile1017=) NC_000016.10:56913362:C:T Identity +NM_001286577.2:c.5403G>A NP_001273506.1:p.Thr1801= NC_000011.10:74048296:C:T p.(Thr1801=) NC_000011.10:74048296:C:T p.(Thr1801=) NC_000011.10:74048296:C:T Identity +NM_005545.4:c.534C>T NP_005536.1:p.Asn178= NC_000015.10:74175391:C:T p.(Asn178=) NC_000015.10:74175391:C:T p.(Asn178=) NC_000015.10:74175391:C:T Identity +NM_000042.3:c.477A>G NP_000033.2:p.Ser159= NC_000017.11:66220680:T:C p.(Ser159=) NC_000017.11:66220680:T:C p.(Ser159=) NC_000017.11:66220680:T:C Identity +NM_001301714.2:c.273C>A NP_001288643.1:p.Arg91= NC_000017.11:40555416:G:T p.(Arg91=) NC_000017.11:40555416:G:T p.(Arg91=) NC_000017.11:40555416:G:T Identity +NM_001401501.2:c.4461C>T NP_001388430.1:p.Pro1487= NC_000019.10:8976797:G:A p.(Pro1487=) NC_000019.10:8976797:G:A p.(Pro1487=) NC_000019.10:8976797:G:A Identity +NM_001197122.2:c.432G>C NP_001184051.1:p.Leu144= NC_000019.10:49662593:C:G p.(Leu144=) NC_000019.10:49662593:C:G p.(Leu144=) NC_000019.10:49662593:C:G Identity +NM_001304342.2:c.1533C>T NP_001291271.1:p.Ser511= NC_000001.11:156041544:G:A p.(Ser511=) NC_000001.11:156041544:G:A p.(Ser511=) NC_000001.11:156041544:G:A Identity +NM_000913.6:c.804A>G NP_000904.1:p.Val268= NC_000020.11:64098489:A:G p.(Val268=) NC_000020.11:64098489:A:G p.(Val268=) NC_000020.11:64098489:A:G Identity +NM_006486.3:c.1872G>A NP_006477.3:p.Pro624= NC_000022.11:45577007:G:A p.(Pro624=) NC_000022.11:45577007:G:A p.(Pro624=) NC_000022.11:45577007:G:A Identity +NM_001134364.2:c.2415G>A NP_001127836.1:p.Gln805= NC_000003.12:47872007:C:T p.(Gln805=) NC_000003.12:47872007:C:T p.(Gln805=) NC_000003.12:47872007:C:T Identity +NM_001365212.1:c.111A>G NP_001352141.1:p.Ser37= NC_000001.11:173825339:A:G p.(Ser37=) NC_000001.11:173825339:A:G p.(Ser37=) NC_000001.11:173825339:A:G Identity +NM_001303279.2:c.1389C>T NP_001290208.1:p.Val463= NC_000017.11:32755569:G:A p.(Val463=) NC_000017.11:32755569:G:A p.(Val463=) NC_000017.11:32755569:G:A Identity +NM_001195328.2:c.594A>T NP_001182257.1:p.Ser198= NC_000023.11:13709339:A:T p.(Ser198=) NC_000023.11:13709339:A:T p.(Ser198=) NC_000023.11:13709339:A:T Identity +NM_001346897.2:c.1653G>A NP_001333826.1:p.Pro551= NC_000007.14:55165344:G:A p.(Pro551=) NC_000007.14:55165344:G:A p.(Pro551=) NC_000007.14:55165344:G:A Identity +NM_002570.5:c.1365G>A NP_002561.1:p.Pro455= NC_000015.10:101384370:C:T p.(Pro455=) NC_000015.10:101384370:C:T p.(Pro455=) NC_000015.10:101384370:C:T Identity +NM_000638.4:c.891C>T NP_000629.3:p.Ser297= NC_000017.11:28368608:G:A p.(Ser297=) NC_000017.11:28368608:G:A p.(Ser297=) NC_000017.11:28368608:G:A Identity +NM_001242385.2:c.1641A>G NP_001229314.1:p.Gly547= NC_000006.12:10764562:T:C p.(Gly547=) NC_000006.12:10764562:T:C p.(Gly547=) NC_000006.12:10764562:T:C Identity +NM_001070.5:c.813C>T NP_001061.2:p.Thr271= NC_000017.11:42613967:C:T p.(Thr271=) NC_000017.11:42613967:C:T p.(Thr271=) NC_000017.11:42613967:C:T Identity +NM_001363197.2:c.246A>G NP_001350126.1:p.Ala82= NC_000008.11:41609664:A:G p.(Ala82=) NC_000008.11:41609664:A:G p.(Ala82=) NC_000008.11:41609664:A:G Identity +NM_001036.6:c.2910G>A NP_001027.3:p.Leu970= NC_000015.10:33632990:G:A p.(Leu970=) NC_000015.10:33632990:G:A p.(Leu970=) NC_000015.10:33632990:G:A Identity +NM_002334.4:c.4254C>T NP_002325.2:p.Asn1418= NC_000011.10:46873568:G:A p.(Asn1418=) NC_000011.10:46873568:G:A p.(Asn1418=) NC_000011.10:46873568:G:A Identity +NM_001365116.2:c.7653A>C NP_001352045.1:p.Gly2551= NC_000003.12:47008317:A:C p.(Gly2551=) NC_000003.12:47008317:A:C p.(Gly2551=) NC_000003.12:47008317:A:C Identity +NM_001111077.2:c.1275T>A NP_001104547.1:p.Thr425= NC_000006.12:158769394:A:T p.(Thr425=) NC_000006.12:158769394:A:T p.(Thr425=) NC_000006.12:158769394:A:T Identity +NM_001135556.2:c.726G>A NP_001129028.1:p.Glu242= NC_000007.14:95984959:G:A p.(Glu242=) NC_000007.14:95984959:G:A p.(Glu242=) NC_000007.14:95984959:G:A Identity +NM_001040272.6:c.105A>G NP_001035362.3:p.Leu35= NC_000009.12:18504869:A:G p.(Leu35=) NC_000009.12:18504869:A:G p.(Leu35=) NC_000009.12:18504869:A:G Identity +NM_001346445.2:c.6618T>G NP_001333374.1:p.Val2206= NC_000011.10:62527798:A:C p.(Val2206=) NC_000011.10:62527798:A:C p.(Val2206=) NC_000011.10:62527798:A:C Identity +NM_001282444.2:c.1392C>T NP_001269373.1:p.Gly464= NC_000011.10:64854545:G:A p.(Gly464=) NC_000011.10:64854545:G:A p.(Gly464=) NC_000011.10:64854545:G:A Identity +NM_003286.4:c.1047G>A NP_003277.1:p.Arg349= NC_000020.11:41100126:G:A p.(Arg349=) NC_000020.11:41100126:G:A p.(Arg349=) NC_000020.11:41100126:G:A Identity +NM_207370.4:c.283C>T NP_997253.2:p.Leu95= NC_000001.11:6254622:G:A p.(Leu95=) NC_000001.11:6254622:G:A p.(Leu95=) NC_000001.11:6254622:G:A Identity +NM_001311193.2:c.2067A>G NP_001298122.2:p.Ala689= NC_000001.11:186988504:A:G p.(Ala689=) NC_000001.11:186988504:A:G p.(Ala689=) NC_000001.11:186988504:A:G Identity +NM_001168393.2:c.930A>G NP_001161865.1:p.Ser310= NC_000005.10:173091108:A:G p.(Ser310=) NC_000005.10:173091108:A:G p.(Ser310=) NC_000005.10:173091108:A:G Identity +NM_001199649.2:c.915A>C NP_001186578.1:p.Ser305= NC_000008.11:140803602:T:G p.(Ser305=) NC_000008.11:140803602:T:G p.(Ser305=) NC_000008.11:140803602:T:G Identity +NM_001184734.1:c.312C>T NP_001171663.1:p.Ser104= NC_000009.12:116620359:G:A p.(Ser104=) NC_000009.12:116620359:G:A p.(Ser104=) NC_000009.12:116620359:G:A Identity +NM_001008563.5:c.2721C>T NP_001008563.2:p.Ile907= NC_000009.12:129880248:C:T p.(Ile907=) NC_000009.12:129880248:C:T p.(Ile907=) NC_000009.12:129880248:C:T Identity +NM_001162951.4:c.483G>A NP_001156423.1:p.Pro161= NC_000011.10:85736600:C:T p.(Pro161=) NC_000011.10:85736600:C:T p.(Pro161=) NC_000011.10:85736600:C:T Identity +NM_001164749.2:c.1479C>T NP_001158221.1:p.Ser493= NC_000014.9:33799785:C:T p.(Ser493=) NC_000014.9:33799785:C:T p.(Ser493=) NC_000014.9:33799785:C:T Identity +NM_001256269.2:c.372G>C NP_001243198.1:p.Ser124= NC_000016.10:29799000:G:C p.(Ser124=) NC_000016.10:29799000:G:C p.(Ser124=) NC_000016.10:29799000:G:C Identity +NM_001134453.3:c.2958A>G NP_001127925.1:p.Arg986= NC_000018.10:31413372:A:G p.(Arg986=) NC_000018.10:31413372:A:G p.(Arg986=) NC_000018.10:31413372:A:G Identity +NM_021615.5:c.237C>T NP_067628.1:p.Thr79= NC_000016.10:75479591:G:A p.(Thr79=) NC_000016.10:75479591:G:A p.(Thr79=) NC_000016.10:75479591:G:A Identity +NM_021615.5:c.130C>T NP_067628.1:p.Leu44= NC_000016.10:75479698:G:A p.(Leu44=) NC_000016.10:75479698:G:A p.(Leu44=) NC_000016.10:75479698:G:A Identity +NM_178557.4:c.789C>T NP_848652.2:p.Gly263= NC_000004.12:2064006:C:T p.(Gly263=) NC_000004.12:2064006:C:T p.(Gly263=) NC_000004.12:2064006:C:T Identity +NM_000445.5:c.13632C>T NP_000436.2:p.Phe4544= NC_000008.11:143916269:G:A p.(Phe4544=) NC_000008.11:143916269:G:A p.(Phe4544=) NC_000008.11:143916269:G:A Identity +NM_000076.2:c.303C>T NP_000067.1:p.Arg101= NC_000011.10:2885186:G:A p.(Arg101=) NC_000011.10:2885186:G:A p.(Arg101=) NC_000011.10:2885186:G:A Identity +NM_006343.3:c.1353A>G NP_006334.2:p.Gln451= NC_000002.12:111994306:A:G p.(Gln451=) NC_000002.12:111994306:A:G p.(Gln451=) NC_000002.12:111994306:A:G Identity +NM_001321118.1:c.504G>A NP_001308047.1:p.Lys168= NC_000002.12:130339143:C:T p.(Lys168=) NC_000002.12:130339143:C:T p.(Lys168=) NC_000002.12:130339143:C:T Identity +NM_207363.3:c.681T>A NP_997246.2:p.Thr227= NC_000002.12:132868941:A:T p.(Thr227=) NC_000002.12:132868941:A:T p.(Thr227=) NC_000002.12:132868941:A:T Identity +NM_001130082.3:c.2538C>T NP_001123554.1:p.Gly846= NC_000003.12:48419747:G:A p.(Gly846=) NC_000003.12:48419747:G:A p.(Gly846=) NC_000003.12:48419747:G:A Identity +NM_016329.4:c.462T>C NP_057413.2:p.Asn154= NC_000003.12:52932299:A:G p.(Asn154=) NC_000003.12:52932299:A:G p.(Asn154=) NC_000003.12:52932299:A:G Identity +NM_001080951.3:c.813C>T NP_001074420.1:p.Ala271= NC_000006.12:143942002:G:A p.(Ala271=) NC_000006.12:143942002:G:A p.(Ala271=) NC_000006.12:143942002:G:A Identity +NM_001290309.3:c.2208C>T NP_001277238.1:p.Ala736= NC_000005.10:138933884:C:T p.(Ala736=) NC_000005.10:138933884:C:T p.(Ala736=) NC_000005.10:138933884:C:T Identity +NM_138295.5:c.3105T>C NP_612152.1:p.Gly1035= NC_000007.14:47885785:A:G p.(Gly1035=) NC_000007.14:47885785:A:G p.(Gly1035=) NC_000007.14:47885785:A:G Identity +NM_005271.5:c.393C>G NP_005262.1:p.Val131= NC_000010.11:87094376:G:C p.(Val131=) NC_000010.11:87094376:G:C p.(Val131=) NC_000010.11:87094376:G:C Identity +NM_002223.4:c.75C>T NP_002214.2:p.Gly25= NC_000012.12:26832706:G:A p.(Gly25=) NC_000012.12:26832706:G:A p.(Gly25=) NC_000012.12:26832706:G:A Identity +NM_001135213.3:c.1242G>A NP_001128685.1:p.Arg414= NC_000012.12:109953097:C:T p.(Arg414=) NC_000012.12:109953097:C:T p.(Arg414=) NC_000012.12:109953097:C:T Identity +NM_001198950.3:c.168C>T NP_001185879.1:p.Arg56= NC_000013.11:108666024:C:T p.(Arg56=) NC_000013.11:108666024:C:T p.(Arg56=) NC_000013.11:108666024:C:T Identity +NM_000359.3:c.285C>T NP_000350.1:p.Ser95= NC_000014.9:24262067:G:A p.(Ser95=) NC_000014.9:24262067:G:A p.(Ser95=) NC_000014.9:24262067:G:A Identity +NM_001142272.2:c.273G>A NP_001135744.2:p.Leu91= NC_000016.10:488937:G:A p.(Leu91=) NC_000016.10:488937:G:A p.(Leu91=) NC_000016.10:488937:G:A Identity +NM_001385034.1:c.1581C>T NP_001371963.1:p.Thr527= NC_000020.11:53577182:G:A p.(Thr527=) NC_000020.11:53577182:G:A p.(Thr527=) NC_000020.11:53577182:G:A Identity +NM_005560.6:c.4251C>T NP_005551.3:p.Ser1417= NC_000020.11:62329039:G:A p.(Ser1417=) NC_000020.11:62329039:G:A p.(Ser1417=) NC_000020.11:62329039:G:A Identity +NM_003446.4:c.78C>T NP_003437.2:p.Ser26= NC_000023.11:47410280:C:T p.(Ser26=) NC_000023.11:47410280:C:T p.(Ser26=) NC_000023.11:47410280:C:T Identity +NM_001163278.2:c.4956C>T NP_001156750.1:p.Asn1652= NC_000023.11:124420336:G:A p.(Asn1652=) NC_000023.11:124420336:G:A p.(Asn1652=) NC_000023.11:124420336:G:A Identity +NM_001278669.2:c.204G>A NP_001265598.1:p.Pro68= NC_000018.10:79410478:G:A p.(Pro68=) NC_000018.10:79410478:G:A p.(Pro68=) NC_000018.10:79410478:G:A Identity +NM_001017403.2:c.2334C>T NP_001017403.1:p.Leu778= NC_000001.11:202318636:C:T p.(Leu778=) NC_000001.11:202318636:C:T p.(Leu778=) NC_000001.11:202318636:C:T Identity +NM_005723.4:c.555C>T NP_005714.2:p.Ser185= NC_000004.12:98478705:G:A p.(Ser185=) NC_000004.12:98478705:G:A p.(Ser185=) NC_000004.12:98478705:G:A Identity +NM_001447.3:c.5007C>A NP_001438.1:p.Ile1669= NC_000005.10:151546119:G:T p.(Ile1669=) NC_000005.10:151546119:G:T p.(Ile1669=) NC_000005.10:151546119:G:T Identity +NM_001130172.2:c.1113C>T NP_001123644.1:p.Cys371= NC_000006.12:135195920:C:T p.(Cys371=) NC_000006.12:135195920:C:T p.(Cys371=) NC_000006.12:135195920:C:T Identity +NM_001171968.3:c.894T>C NP_001165439.2:p.Gly298= NC_000011.10:620150:A:G p.(Gly298=) NC_000011.10:620150:A:G p.(Gly298=) NC_000011.10:620150:A:G Identity +NM_001308025.1:c.5130G>C NP_001294954.1:p.Gly1710= NC_000015.10:89625442:G:C p.(Gly1710=) NC_000015.10:89625442:G:C p.(Gly1710=) NC_000015.10:89625442:G:C Identity +NM_022092.3:c.537C>T NP_071375.1:p.His179= NC_000016.10:789645:C:T p.(His179=) NC_000016.10:789645:C:T p.(His179=) NC_000016.10:789645:C:T Identity +NM_005828.5:c.507G>A NP_005819.3:p.Gln169= NC_000017.11:63579921:G:A p.(Gln169=) NC_000017.11:63579921:G:A p.(Gln169=) NC_000017.11:63579921:G:A Identity +NM_005559.4:c.7716C>T NP_005550.2:p.His2572= NC_000018.10:6959402:G:A p.(His2572=) NC_000018.10:6959402:G:A p.(His2572=) NC_000018.10:6959402:G:A Identity +NM_021916.4:c.384C>T NP_068735.1:p.Asn128= NC_000022.11:23744756:G:A p.(Asn128=) NC_000022.11:23744756:G:A p.(Asn128=) NC_000022.11:23744756:G:A Identity +NM_021154.5:c.795G>A NP_066977.1:p.Ala265= NC_000009.12:78317729:G:A p.(Ala265=) NC_000009.12:78317729:G:A p.(Ala265=) NC_000009.12:78317729:G:A Identity +NM_001168388.3:c.657C>T NP_001161860.1:p.Asp219= NC_000006.12:139373287:G:A p.(Asp219=) NC_000006.12:139373287:G:A p.(Asp219=) NC_000006.12:139373287:G:A Identity +NM_016219.5:c.1095C>T NP_057303.2:p.Ala365= NC_000009.12:137101512:C:T p.(Ala365=) NC_000009.12:137101512:C:T p.(Ala365=) NC_000009.12:137101512:C:T Identity +NM_001080464.3:c.669C>T NP_001073933.2:p.Asp223= NC_000014.9:104103590:C:T p.(Asp223=) NC_000014.9:104103590:C:T p.(Asp223=) NC_000014.9:104103590:C:T Identity +NM_001271999.2:c.5655T>C NP_001258928.1:p.Ser1885= NC_000001.11:62476102:A:G p.(Ser1885=) NC_000001.11:62476102:A:G p.(Ser1885=) NC_000001.11:62476102:A:G Identity +NM_001098623.2:c.12135G>A NP_001092093.2:p.Ala4045= NC_000001.11:228307108:G:A p.(Ala4045=) NC_000001.11:228307108:G:A p.(Ala4045=) NC_000001.11:228307108:G:A Identity +NM_001302758.2:c.159T>C NP_001289687.1:p.Pro53= NC_000002.12:85695344:T:C p.(Pro53=) NC_000002.12:85695344:T:C p.(Pro53=) NC_000002.12:85695344:T:C Identity +NM_018290.4:c.966C>T NP_060760.2:p.Asp322= NC_000004.12:37845688:C:T p.(Asp322=) NC_000004.12:37845688:C:T p.(Asp322=) NC_000004.12:37845688:C:T Identity +NM_001001522.2:c.579C>T NP_001001522.1:p.Tyr193= NC_000011.10:117204331:C:T p.(Tyr193=) NC_000011.10:117204331:C:T p.(Tyr193=) NC_000011.10:117204331:C:T Identity +NM_002558.4:c.1110C>T NP_002549.1:p.Tyr370= NC_000017.11:3898032:G:A p.(Tyr370=) NC_000017.11:3898032:G:A p.(Tyr370=) NC_000017.11:3898032:G:A Identity +NM_001305275.2:c.1719G>A NP_001292204.1:p.Thr573= NC_000001.11:1043652:G:A p.(Thr573=) NC_000001.11:1043652:G:A p.(Thr573=) NC_000001.11:1043652:G:A Identity +NM_001190997.3:c.945T>C NP_001177926.1:p.Pro315= NC_000012.12:224081:A:G p.(Pro315=) NC_000012.12:224081:A:G p.(Pro315=) NC_000012.12:224081:A:G Identity +NM_001301821.2:c.117G>A NP_001288750.1:p.Arg39= NC_000007.14:117426923:C:T p.(Arg39=) NC_000007.14:117426923:C:T p.(Arg39=) NC_000007.14:117426923:C:T Identity +NM_001253912.2:c.45C>T NP_001240841.1:p.Asn15= NC_000004.12:37902139:C:T p.(Asn15=) NC_000004.12:37902139:C:T p.(Asn15=) NC_000004.12:37902139:C:T Identity +NM_001317122.2:c.165C>T NP_001304051.1:p.Tyr55= NC_000001.11:35888565:C:T p.(Tyr55=) NC_000001.11:35888565:C:T p.? NC_000001.11:35888565:C:T Identity +NM_203371.2:c.192C>T NP_976249.1:p.Cys64= NC_000011.10:26994717:C:T p.(Cys64=) NC_000011.10:26994717:C:T p.(Cys64=) NC_000011.10:26994717:C:T Identity +NM_001372106.1:c.477C>T NP_001359035.1:p.Asn159= NC_000012.12:123772913:C:T p.(Asn159=) NC_000012.12:123772913:C:T p.(Asn159=) NC_000012.12:123772913:C:T Identity +NM_001199760.2:c.348C>T NP_001186689.1:p.Asp116= NC_000015.10:79845401:G:A p.(Asp116=) NC_000015.10:79845401:G:A p.(Asp116=) NC_000015.10:79845401:G:A Identity +NM_015710.5:c.309C>G NP_056525.2:p.Thr103= NC_000019.10:47750196:C:G p.(Thr103=) NC_000019.10:47750196:C:G p.(Thr103=) NC_000019.10:47750196:C:G Identity +NM_006915.3:c.606T>C NP_008846.2:p.Pro202= NC_000023.11:46853978:T:C p.(Pro202=) NC_000023.11:46853978:T:C p.(Pro202=) NC_000023.11:46853978:T:C Identity +NM_007231.5:c.999A>G NP_009162.1:p.Leu333= NC_000023.11:116451509:A:G p.(Leu333=) NC_000023.11:116451509:A:G p.(Leu333=) NC_000023.11:116451509:A:G Identity +NM_001279353.2:c.582A>G NP_001266282.1:p.Pro194= NC_000001.11:150081957:A:G p.(Pro194=) NC_000001.11:150081957:A:G p.(Pro194=) NC_000001.11:150081957:A:G Identity +NM_001006658.3:c.135C>T NP_001006659.1:p.Thr45= NC_000001.11:207466601:C:T p.(Thr45=) NC_000001.11:207466601:C:T p.(Thr45=) NC_000001.11:207466601:C:T Identity +NM_000329.3:c.1152C>G NP_000320.1:p.Val384= NC_000001.11:68431561:G:C p.(Val384=) NC_000001.11:68431561:G:C p.(Val384=) NC_000001.11:68431561:G:C Identity +NM_000334.4:c.4566C>T NP_000325.4:p.Phe1522= NC_000017.11:63941715:G:A p.(Phe1522=) NC_000017.11:63941715:G:A p.(Phe1522=) NC_000017.11:63941715:G:A Identity +NM_004933.3:c.1410C>T NP_004924.1:p.Ser470= NC_000016.10:89191688:C:T p.(Ser470=) NC_000016.10:89191688:C:T p.(Ser470=) NC_000016.10:89191688:C:T Identity +NM_018012.4:c.3231G>A NP_060482.2:p.Ser1077= NC_000001.11:245686213:G:A p.(Ser1077=) NC_000001.11:245686213:G:A p.(Ser1077=) NC_000001.11:245686213:G:A Identity +NM_001306079.2:c.1890G>A NP_001293008.1:p.Leu630= NC_000002.12:27226571:G:A p.(Leu630=) NC_000002.12:27226571:G:A p.(Leu630=) NC_000002.12:27226571:G:A Identity +NM_006982.3:c.630A>T NP_008913.2:p.Ser210= NC_000012.12:85286950:A:T p.(Ser210=) NC_000012.12:85286950:A:T p.(Ser210=) NC_000012.12:85286950:A:T Identity +NM_001128128.3:c.555T>C NP_001121600.1:p.Ser185= NC_000010.11:31510793:T:C p.(Ser185=) NC_000010.11:31510793:T:C p.(Ser185=) NC_000010.11:31510793:T:C Identity +NM_002176.4:c.232T>C NP_002167.1:p.Leu78= NC_000009.12:21077637:A:G p.(Leu78=) NC_000009.12:21077637:A:G p.(Leu78=) NC_000009.12:21077637:A:G Identity +NM_001163278.2:c.996G>A NP_001156750.1:p.Leu332= NC_000023.11:124705031:C:T p.(Leu332=) NC_000023.11:124705031:C:T p.(Leu332=) NC_000023.11:124705031:C:T Identity +NM_018428.3:c.183A>G NP_060898.2:p.Glu61= NC_000017.11:31895005:T:C p.(Glu61=) NC_000017.11:31895005:T:C p.(Glu61=) NC_000017.11:31895005:T:C Identity +NM_001300814.1:c.780C>T NP_001287743.1:p.Asp260= NC_000012.12:52839921:G:A p.(Asp260=) NC_000012.12:52839921:G:A p.(Asp260=) NC_000012.12:52839921:G:A Identity +NM_001184772.3:c.1446G>A NP_001171701.1:p.Pro482= NC_000023.11:130014217:G:A p.(Pro482=) NC_000023.11:130014217:G:A p.(Pro482=) NC_000023.11:130014217:G:A Identity +NM_001207055.2:c.333G>A NP_001193984.1:p.Ser111= NC_000020.11:32787255:G:A p.(Ser111=) NC_000020.11:32787255:G:A p.(Ser111=) NC_000020.11:32787255:G:A Identity +NM_001014980.3:c.759G>A NP_001014980.1:p.Glu253= NC_000001.11:1242885:C:T p.(Glu253=) NC_000001.11:1242885:C:T p.(Glu253=) NC_000001.11:1242885:C:T Identity +NM_001146008.2:c.1215G>A NP_001139480.1:p.Ala405= NC_000008.11:69755466:C:T p.(Ala405=) NC_000008.11:69755466:C:T p.(Ala405=) NC_000008.11:69755466:C:T Identity +NM_001085.5:c.258C>T NP_001076.2:p.Phe86= NC_000014.9:94614698:C:T p.(Phe86=) NC_000014.9:94614698:C:T p.(Phe86=) NC_000014.9:94614698:C:T Identity +NM_032567.4:c.1020A>G NP_115956.3:p.Glu340= NC_000005.10:80321234:A:G p.(Glu340=) NC_000005.10:80321234:A:G p.(Glu340=) NC_000005.10:80321234:A:G Identity +NM_001318891.2:c.2004G>A NP_001305820.1:p.Lys668= NC_000006.12:27451554:C:T p.(Lys668=) NC_000006.12:27451554:C:T p.(Lys668=) NC_000006.12:27451554:C:T Identity +NM_001370598.1:c.2193C>T NP_001357527.1:p.Arg731= NC_000012.12:111320387:C:T p.(Arg731=) NC_000012.12:111320387:C:T p.(Arg731=) NC_000012.12:111320387:C:T Identity +NM_012174.2:c.832C>T NP_036306.1:p.Leu278= NC_000012.12:116985399:C:T p.(Leu278=) NC_000012.12:116985399:C:T p.(Leu278=) NC_000012.12:116985399:C:T Identity +NM_001171937.2:c.297C>T NP_001165408.1:p.Ile99= NC_000019.10:49811449:G:A p.(Ile99=) NC_000019.10:49811449:G:A p.(Ile99=) NC_000019.10:49811449:G:A Identity +NM_001099855.2:c.297G>A NP_001093325.1:p.Thr99= NC_000023.11:139632388:C:T p.(Thr99=) NC_000023.11:139632388:C:T p.(Thr99=) NC_000023.11:139632388:C:T Identity +NM_002472.3:c.1318C>T NP_002463.2:p.Leu440= NC_000017.11:10412467:G:A p.(Leu440=) NC_000017.11:10412467:G:A p.(Leu440=) NC_000017.11:10412467:G:A Identity +NM_001173990.3:c.30G>A NP_001167461.1:p.Pro10= NC_000011.10:61392660:G:A p.(Pro10=) NC_000011.10:61392660:G:A p.(Pro10=) NC_000011.10:61392660:G:A Identity +NM_021027.3:c.225G>A NP_066307.1:p.Lys75= NC_000002.12:233672158:G:A p.(Lys75=) NC_000002.12:233672158:G:A p.(Lys75=) NC_000002.12:233672158:G:A Identity +NM_001261427.3:c.582G>A NP_001248356.1:p.Ser194= NC_000002.12:11771646:G:A p.(Ser194=) NC_000002.12:11771646:G:A p.(Ser194=) NC_000002.12:11771646:G:A Identity +NM_139072.4:c.540G>A NP_620711.3:p.Pro180= NC_000002.12:229591624:C:T p.(Pro180=) NC_000002.12:229591624:C:T p.(Pro180=) NC_000002.12:229591624:C:T Identity +NM_001206955.2:c.2205T>C NP_001193884.1:p.Tyr735= NC_000003.12:3040077:T:C p.(Tyr735=) NC_000003.12:3040077:T:C p.(Tyr735=) NC_000003.12:3040077:T:C Identity +NM_001101648.2:c.2505T>C NP_001095118.1:p.Ala835= NC_000007.14:44532121:A:G p.(Ala835=) NC_000007.14:44532121:A:G p.(Ala835=) NC_000007.14:44532121:A:G Identity +NM_001083617.2:c.4272C>T NP_001077086.1:p.Ser1424= NC_000008.11:52642415:G:A p.(Ser1424=) NC_000008.11:52642415:G:A p.(Ser1424=) NC_000008.11:52642415:G:A Identity +NM_001039619.3:c.324C>T NP_001034708.1:p.Pro108= NC_000014.9:22927600:G:A p.(Pro108=) NC_000014.9:22927600:G:A p.(Pro108=) NC_000014.9:22927600:G:A Identity +NM_001030048.1:c.552G>A NP_001025219.1:p.Thr184= NC_000019.10:50860021:G:A p.(Thr184=) NC_000019.10:50860021:G:A p.(Thr184=) NC_000019.10:50860021:G:A Identity +NM_001321375.2:c.897T>C NP_001308304.1:p.Tyr299= NC_000019.10:57720894:A:G p.(Tyr299=) NC_000019.10:57720894:A:G p.(Tyr299=) NC_000019.10:57720894:A:G Identity +NM_024721.5:c.192C>T NP_078997.4:p.Phe64= NC_000008.11:76704279:C:T p.(Phe64=) NC_000008.11:76704279:C:T p.(Phe64=) NC_000008.11:76704279:C:T Identity +NM_001329906.2:c.162G>A NP_001316835.1:p.Pro54= NC_000010.11:70435615:C:T p.(Pro54=) NC_000010.11:70435615:C:T p.(Pro54=) NC_000010.11:70435615:C:T Identity +NM_015180.6:c.10095A>G NP_055995.4:p.Arg3365= NC_000014.9:64062777:A:G p.(Arg3365=) NC_000014.9:64062777:A:G p.(Arg3365=) NC_000014.9:64062777:A:G Identity +NM_001675.4:c.240C>T NP_001666.2:p.Ser80= NC_000022.11:39521785:C:T p.(Ser80=) NC_000022.11:39521785:C:T p.(Ser80=) NC_000022.11:39521785:C:T Identity +NM_001080477.4:c.4746C>T NP_001073946.1:p.Asn1582= NC_000004.12:182755112:C:T p.(Asn1582=) NC_000004.12:182755112:C:T p.(Asn1582=) NC_000004.12:182755112:C:T Identity +NM_001284388.2:c.1875G>A NP_001271317.1:p.Lys625= NC_000010.11:102161658:G:A p.(Lys625=) NC_000010.11:102161658:G:A p.(Lys625=) NC_000010.11:102161658:G:A Identity +NM_001328674.2:c.1338C>T NP_001315603.1:p.Ile446= NC_000001.11:149909232:G:A p.(Ile446=) NC_000001.11:149909232:G:A p.(Ile446=) NC_000001.11:149909232:G:A Identity +NM_001104631.2:c.126G>T NP_001098101.1:p.Pro42= NC_000005.10:59893496:C:A p.(Pro42=) NC_000005.10:59893496:C:A p.(Pro42=) NC_000005.10:59893496:C:A Identity +NM_000520.6:c.981C>T NP_000511.2:p.Thr327= NC_000015.10:72349083:G:A p.(Thr327=) NC_000015.10:72349083:G:A p.(Thr327=) NC_000015.10:72349083:G:A Identity +NM_000159.4:c.417G>A NP_000150.1:p.Ser139= NC_000019.10:12893564:G:A p.(Ser139=) NC_000019.10:12893564:G:A p.(Ser139=) NC_000019.10:12893564:G:A Identity +NM_001017423.2:c.219C>T NP_001017423.1:p.Ile73= NC_000010.11:95643075:G:A p.(Ile73=) NC_000010.11:95643075:G:A p.(Ile73=) NC_000010.11:95643075:G:A Identity +NM_000631.5:c.705C>T NP_000622.2:p.Asp235= NC_000022.11:36875729:C:T p.(Asp235=) NC_000022.11:36875729:C:T p.(Asp235=) NC_000022.11:36875729:C:T Identity +NM_031459.5:c.1092T>C NP_113647.1:p.Asp364= NC_000001.11:28274895:T:C p.(Asp364=) NC_000001.11:28274895:T:C p.(Asp364=) NC_000001.11:28274895:T:C Identity +NM_001267609.1:c.888C>T NP_001254538.1:p.Leu296= NC_000001.11:168096778:G:A p.(Leu296=) NC_000001.11:168096778:G:A p.(Leu296=) NC_000001.11:168096778:G:A Identity +NM_001300845.2:c.1131G>A NP_001287774.1:p.Glu377= NC_000001.11:234323107:G:A p.(Glu377=) NC_000001.11:234323107:G:A p.(Glu377=) NC_000001.11:234323107:G:A Identity +NM_001378125.1:c.13810C>A NP_001365054.1:p.Arg4604= NC_000002.12:32597950:C:A p.(Arg4604=) NC_000002.12:32597950:C:A p.(Arg4604=) NC_000002.12:32597950:C:A Identity +NM_018945.4:c.786T>C NP_061818.1:p.His262= NC_000006.12:136173870:T:C p.(His262=) NC_000006.12:136173870:T:C p.(His262=) NC_000006.12:136173870:T:C Identity +NM_000075.4:c.210T>C NP_000066.1:p.Asn70= NC_000012.12:57751507:A:G p.(Asn70=) NC_000012.12:57751507:A:G p.(Asn70=) NC_000012.12:57751507:A:G Identity +NM_001277961.3:c.2010C>T NP_001264890.1:p.His670= NC_000011.10:4091431:C:T p.(His670=) NC_000011.10:4091431:C:T p.(His670=) NC_000011.10:4091431:C:T Identity +NM_133259.4:c.42C>T NP_573566.2:p.Ala14= NC_000002.12:43995905:G:A p.(Ala14=) NC_000002.12:43995905:G:A p.(Ala14=) NC_000002.12:43995905:G:A Identity +NM_001329137.2:c.804C>T NP_001316066.1:p.Tyr268= NC_000001.11:43588836:C:T p.(Tyr268=) NC_000001.11:43588836:C:T p.(Tyr268=) NC_000001.11:43588836:C:T Identity +NM_001278064.2:c.2139G>A NP_001264993.1:p.Leu713= NC_000006.12:146399177:G:A p.(Leu713=) NC_000006.12:146399177:G:A p.(Leu713=) NC_000006.12:146399177:G:A Identity +NM_001256850.1:c.39270T>G NP_001243779.1:p.Leu13090= NC_000002.12:178630328:A:C p.(Leu13090=) NC_000002.12:178630328:A:C p.(Leu13090=) NC_000002.12:178630328:A:C Identity +NM_003742.4:c.498C>T NP_003733.2:p.Ala166= NC_000002.12:168995461:G:A p.(Ala166=) NC_000002.12:168995461:G:A p.(Ala166=) NC_000002.12:168995461:G:A Identity +NM_000109.4:c.474C>A NP_000100.3:p.Gly158= NC_000023.11:32816499:G:T p.(Gly158=) NC_000023.11:32816499:G:T p.(Gly158=) NC_000023.11:32816499:G:T Identity +NM_001283009.2:c.3534G>A NP_001269938.1:p.Gln1178= NC_000020.11:63695361:G:A p.(Gln1178=) NC_000020.11:63695361:G:A p.(Gln1178=) NC_000020.11:63695361:G:A Identity +NM_000237.3:c.1107C>T NP_000228.1:p.Thr369= NC_000008.11:19959347:C:T p.(Thr369=) NC_000008.11:19959347:C:T p.(Thr369=) NC_000008.11:19959347:C:T Identity +NM_000445.5:c.1254G>A NP_000436.2:p.Leu418= NC_000008.11:143934087:C:T p.(Leu418=) NC_000008.11:143934087:C:T p.(Leu418=) NC_000008.11:143934087:C:T Identity +NM_001164507.2:c.954C>T NP_001157979.2:p.Asn318= NC_000002.12:151709736:G:A p.(Asn318=) NC_000002.12:151709736:G:A p.(Asn318=) NC_000002.12:151709736:G:A Identity +NM_001264.5:c.528G>A NP_001255.4:p.Leu176= NC_000006.12:31117086:C:T p.(Leu176=) NC_000006.12:31117086:C:T p.(Leu176=) NC_000006.12:31117086:C:T Identity +NM_001286431.2:c.1965T>C NP_001273360.1:p.Ser655= NC_000006.12:111376155:A:G p.(Ser655=) NC_000006.12:111376155:A:G p.(Ser655=) NC_000006.12:111376155:A:G Identity +NM_001318520.2:c.2757T>G NP_001305449.1:p.Ser919= NC_000018.10:70048018:A:C p.(Ser919=) NC_000018.10:70048018:A:C p.(Ser919=) NC_000018.10:70048018:A:C Identity +NM_199242.3:c.999C>T NP_954712.1:p.Thr333= NC_000017.11:75839894:G:A p.(Thr333=) NC_000017.11:75839894:G:A p.(Thr333=) NC_000017.11:75839894:G:A Identity +NM_001195573.1:c.321T>C NP_001182502.1:p.Ala107= NC_000014.9:95131625:A:G p.(Ala107=) NC_000014.9:95131625:A:G p.(Ala107=) NC_000014.9:95131625:A:G Identity +NM_001308258.2:c.2421A>G NP_001295187.1:p.Leu807= NC_000003.12:149172122:A:G p.(Leu807=) NC_000003.12:149172122:A:G p.(Leu807=) NC_000003.12:149172122:A:G Identity +NM_005045.4:c.4248C>T NP_005036.2:p.Cys1416= NC_000007.14:103575602:G:A p.(Cys1416=) NC_000007.14:103575602:G:A p.(Cys1416=) NC_000007.14:103575602:G:A Identity +NM_001282225.2:c.549G>A NP_001269154.1:p.Leu183= NC_000022.11:17203766:C:T p.(Leu183=) NC_000022.11:17203766:C:T p.(Leu183=) NC_000022.11:17203766:C:T Identity +NM_000244.4:c.1197C>T NP_000235.3:p.Ser399= NC_000011.10:64805637:G:A p.(Ser399=) NC_000011.10:64805637:G:A p.(Ser399=) NC_000011.10:64805637:G:A Identity +NM_000033.4:c.1401G>A NP_000024.2:p.Val467= NC_000023.11:153737163:G:A p.(Val467=) NC_000023.11:153737163:G:A p.(Val467=) NC_000023.11:153737163:G:A Identity +NM_002114.4:c.7980G>A NP_002105.3:p.Thr2660= NC_000006.12:12164283:G:A p.(Thr2660=) NC_000006.12:12164283:G:A p.(Thr2660=) NC_000006.12:12164283:G:A Identity +NM_000264.5:c.1671A>G NP_000255.2:p.Thr557= NC_000009.12:95476090:T:C p.(Thr557=) NC_000009.12:95476090:T:C p.(Thr557=) NC_000009.12:95476090:T:C Identity +NM_020533.3:c.1581C>T NP_065394.1:p.Pro527= NC_000019.10:7533527:C:T p.(Pro527=) NC_000019.10:7533527:C:T p.(Pro527=) NC_000019.10:7533527:C:T Identity +NM_000263.4:c.1479G>A NP_000254.2:p.Ala493= NC_000017.11:42543484:G:A p.(Ala493=) NC_000017.11:42543484:G:A p.(Ala493=) NC_000017.11:42543484:G:A Identity +NM_001370402.1:c.885A>G NP_001357331.1:p.Pro295= NC_000007.14:73489199:T:C p.(Pro295=) NC_000007.14:73489199:T:C p.(Pro295=) NC_000007.14:73489199:T:C Identity +NM_001130414.1:c.351C>T NP_001123886.1:p.Asn117= NC_000015.10:29054234:C:T p.(Asn117=) NC_000015.10:29054234:C:T p.(Asn117=) NC_000015.10:29054234:C:T Identity +NM_001001344.3:c.324C>T NP_001001344.1:p.Asp108= NC_000023.11:153541473:C:T p.(Asp108=) NC_000023.11:153541473:C:T p.(Asp108=) NC_000023.11:153541473:C:T Identity +NM_000251.3:c.2250G>A NP_000242.1:p.Leu750= NC_000002.12:47478310:G:A p.(Leu750=) NC_000002.12:47478310:G:A p.(Leu750=) NC_000002.12:47478310:G:A Identity +NM_001184985.2:c.1788C>T NP_001171914.1:p.Ser596= NC_000012.12:861179:C:T p.(Ser596=) NC_000012.12:861179:C:T p.(Ser596=) NC_000012.12:861179:C:T Identity +NM_001257281.2:c.1089T>C NP_001244210.1:p.Ile363= NC_000002.12:232163596:T:C p.(Ile363=) NC_000002.12:232163596:T:C p.(Ile363=) NC_000002.12:232163596:T:C Identity +NM_000445.5:c.13146C>T NP_000436.2:p.Ala4382= NC_000008.11:143916755:G:A p.(Ala4382=) NC_000008.11:143916755:G:A p.(Ala4382=) NC_000008.11:143916755:G:A Identity +NM_000445.5:c.3876C>G NP_000436.2:p.Val1292= NC_000008.11:143927296:G:C p.(Val1292=) NC_000008.11:143927296:G:C p.(Val1292=) NC_000008.11:143927296:G:C Identity +NM_000206.3:c.786C>T NP_000197.1:p.Ala262= NC_000023.11:71108666:G:A p.(Ala262=) NC_000023.11:71108666:G:A p.(Ala262=) NC_000023.11:71108666:G:A Identity +NM_000274.4:c.90T>C NP_000265.1:p.Thr30= NC_000010.11:124412081:A:G p.(Thr30=) NC_000010.11:124412081:A:G p.(Thr30=) NC_000010.11:124412081:A:G Identity +NM_000377.3:c.69C>T NP_000368.1:p.Pro23= NC_000023.11:48683921:C:T p.(Pro23=) NC_000023.11:48683921:C:T p.(Pro23=) NC_000023.11:48683921:C:T Identity +NM_001330609.2:c.1746T>C NP_001317538.1:p.Pro582= NC_000008.11:125050572:A:G p.(Pro582=) NC_000008.11:125050572:A:G p.(Pro582=) NC_000008.11:125050572:A:G Identity +NM_001291860.2:c.12693C>T NP_001278789.1:p.Ile4231= NC_000001.11:21824590:G:A p.(Ile4231=) NC_000001.11:21824590:G:A p.(Ile4231=) NC_000001.11:21824590:G:A Identity +NM_000721.4:c.2118C>T NP_000712.2:p.Leu706= NC_000001.11:181724512:C:T p.(Leu706=) NC_000001.11:181724512:C:T p.(Leu706=) NC_000001.11:181724512:C:T Identity +NM_133259.4:c.2766G>A NP_573566.2:p.Arg922= NC_000002.12:43925931:C:T p.(Arg922=) NC_000002.12:43925931:C:T p.(Arg922=) NC_000002.12:43925931:C:T Identity +NM_001163673.2:c.471A>G NP_001157145.1:p.Thr157= NC_000017.11:1731180:A:G p.(Thr157=) NC_000017.11:1731180:A:G p.(Thr157=) NC_000017.11:1731180:A:G Identity +NM_000033.4:c.1257G>A NP_000024.2:p.Val419= NC_000023.11:153736376:G:A p.(Val419=) NC_000023.11:153736376:G:A p.(Val419=) NC_000023.11:153736376:G:A Identity +NM_000133.4:c.507C>G NP_000124.1:p.Ser169= NC_000023.11:139548477:C:G p.(Ser169=) NC_000023.11:139548477:C:G p.(Ser169=) NC_000023.11:139548477:C:G Identity +NM_000249.4:c.126A>G NP_000240.1:p.Ala42= NC_000003.12:36996627:A:G p.(Ala42=) NC_000003.12:36996627:A:G p.(Ala42=) NC_000003.12:36996627:A:G Identity +NM_004656.4:c.1626C>T NP_004647.1:p.Asp542= NC_000003.12:52403518:G:A p.(Asp542=) NC_000003.12:52403518:G:A p.(Asp542=) NC_000003.12:52403518:G:A Identity +NM_001080976.3:c.730C>T NP_001074445.1:p.Leu244= NC_000006.12:116431012:C:T p.(Leu244=) NC_000006.12:116431012:C:T p.(Leu244=) NC_000006.12:116431012:C:T Identity +NM_000158.4:c.351G>T NP_000149.4:p.Leu117= NC_000003.12:81670915:C:A p.(Leu117=) NC_000003.12:81670915:C:A p.(Leu117=) NC_000003.12:81670915:C:A Identity +NM_001185039.2:c.1569G>A NP_001171968.1:p.Leu523= NC_000017.11:75949261:C:T p.(Leu523=) NC_000017.11:75949261:C:T p.(Leu523=) NC_000017.11:75949261:C:T Identity +NM_004104.5:c.6072C>T NP_004095.4:p.Cys2024= NC_000017.11:82082099:G:A p.(Cys2024=) NC_000017.11:82082099:G:A p.(Cys2024=) NC_000017.11:82082099:G:A Identity +NM_001206927.2:c.5328T>C NP_001193856.1:p.His1776= NC_000006.12:38850378:T:C p.(His1776=) NC_000006.12:38850378:T:C p.(His1776=) NC_000006.12:38850378:T:C Identity +NM_144666.3:c.1848A>G NP_653267.2:p.Glu616= NC_000011.10:6528531:A:G p.(Glu616=) NC_000011.10:6528531:A:G p.(Glu616=) NC_000011.10:6528531:A:G Identity +NM_001174089.2:c.954A>G NP_001167560.1:p.Pro318= NC_000020.11:3231236:T:C p.(Pro318=) NC_000020.11:3231236:T:C p.(Pro318=) NC_000020.11:3231236:T:C Identity +NM_016013.4:c.147C>T NP_057097.2:p.Ala49= NC_000015.10:41396912:G:A p.(Ala49=) NC_000015.10:41396912:G:A p.(Ala49=) NC_000015.10:41396912:G:A Identity +NM_002246.3:c.120G>A NP_002237.1:p.Arg40= NC_000002.12:26692994:G:A p.(Arg40=) NC_000002.12:26692994:G:A p.(Arg40=) NC_000002.12:26692994:G:A Identity +NM_001256944.2:c.2001G>A NP_001243873.1:p.Ter667= NC_000023.11:10233583:G:A p.(Ter667=) NC_000023.11:10233583:G:A p.(Ter667Ter) NC_000023.11:10233583:G:A Identity +NM_001005407.2:c.4977A>G NP_001005407.1:p.Ala1659= NC_000016.10:1215036:A:G p.(Ala1659=) NC_000016.10:1215036:A:G p.(Ala1659=) NC_000016.10:1215036:A:G Identity +NM_000038.6:c.7683A>G NP_000029.2:p.Val2561= NC_000005.10:112843276:A:G p.(Val2561=) NC_000005.10:112843276:A:G p.(Val2561=) NC_000005.10:112843276:A:G Identity +NM_001363227.2:c.837C>T NP_001350156.1:p.Asp279= NC_000008.11:43173728:C:T p.(Asp279=) NC_000008.11:43173728:C:T p.(Asp279=) NC_000008.11:43173728:C:T Identity +NM_000228.3:c.168C>T NP_000219.2:p.Cys56= NC_000001.11:209649978:G:A p.(Cys56=) NC_000001.11:209649978:G:A p.(Cys56=) NC_000001.11:209649978:G:A Identity +NM_001146158.2:c.1287A>G NP_001139630.1:p.Arg429= NC_000002.12:74462183:T:C p.(Arg429=) NC_000002.12:74462183:T:C p.(Arg429=) NC_000002.12:74462183:T:C Identity +NM_001318496.2:c.477T>C NP_001305425.1:p.Gly159= NC_000011.10:67520080:A:G p.(Gly159=) NC_000011.10:67520080:A:G p.(Gly159=) NC_000011.10:67520080:A:G Identity +NM_001408.3:c.1137G>C NP_001399.1:p.Arg379= NC_000001.11:109251215:G:C p.(Arg379=) NC_000001.11:109251215:G:C p.(Arg379=) NC_000001.11:109251215:G:C Identity +NM_001365212.1:c.184T>C NP_001352141.1:p.Leu62= NC_000001.11:173826742:T:C p.(Leu62=) NC_000001.11:173826742:T:C p.(Leu62=) NC_000001.11:173826742:T:C Identity +NM_000059.4:c.1980T>A NP_000050.3:p.Thr660= NC_000013.11:32336334:T:A p.(Thr660=) NC_000013.11:32336334:T:A p.(Thr660=) NC_000013.11:32336334:T:A Identity +NM_000195.5:c.1029T>C NP_000186.2:p.Pro343= NC_000010.11:98425943:A:G p.(Pro343=) NC_000010.11:98425943:A:G p.(Pro343=) NC_000010.11:98425943:A:G Identity +NM_001164507.2:c.3864T>C NP_001157979.2:p.Ala1288= NC_000002.12:151675301:A:G p.(Ala1288=) NC_000002.12:151675301:A:G p.(Ala1288=) NC_000002.12:151675301:A:G Identity +NM_001145770.3:c.642G>A NP_001139242.1:p.Ser214= NC_000016.10:57654006:G:A p.(Ser214=) NC_000016.10:57654006:G:A p.(Ser214=) NC_000016.10:57654006:G:A Identity +NM_182894.3:c.210C>A NP_878314.1:p.Pro70= NC_000014.9:74239770:C:A p.(Pro70=) NC_000014.9:74239770:C:A p.(Pro70=) NC_000014.9:74239770:C:A Identity +NM_057176.3:c.75C>T NP_476517.1:p.Leu25= NC_000001.11:54999260:C:T p.(Leu25=) NC_000001.11:54999260:C:T p.(Leu25=) NC_000001.11:54999260:C:T Identity +NM_001135040.3:c.1623G>A NP_001128512.1:p.Glu541= NC_000002.12:74369115:C:T p.(Glu541=) NC_000002.12:74369115:C:T p.(Glu541=) NC_000002.12:74369115:C:T Identity +NM_014704.4:c.2160A>G NP_055519.1:p.Glu720= NC_000001.11:3826735:T:C p.(Glu720=) NC_000001.11:3826735:T:C p.(Glu720=) NC_000001.11:3826735:T:C Identity +NM_001105077.4:c.1044C>T NP_001098547.3:p.Gly348= NC_000003.12:169116458:G:A p.(Gly348=) NC_000003.12:169116458:G:A p.(Gly348=) NC_000003.12:169116458:G:A Identity +NM_001160227.2:c.1269A>G NP_001153699.1:p.Glu423= NC_000015.10:44651677:T:C p.(Glu423=) NC_000015.10:44651677:T:C p.(Glu423=) NC_000015.10:44651677:T:C Identity +NM_030957.4:c.69G>A NP_112219.3:p.Thr23= NC_000019.10:8605641:C:T p.(Thr23=) NC_000019.10:8605641:C:T p.(Thr23=) NC_000019.10:8605641:C:T Identity +NM_000260.4:c.759C>T NP_000251.3:p.His253= NC_000011.10:77157301:C:T p.(His253=) NC_000011.10:77157301:C:T p.(His253=) NC_000011.10:77157301:C:T Identity +NM_000073.3:c.219T>C NP_000064.1:p.Asn73= NC_000011.10:118349881:T:C p.(Asn73=) NC_000011.10:118349881:T:C p.(Asn73=) NC_000011.10:118349881:T:C Identity +NM_000352.6:c.3018C>T NP_000343.2:p.Ser1006= NC_000011.10:17407031:G:A p.(Ser1006=) NC_000011.10:17407031:G:A p.(Ser1006=) NC_000011.10:17407031:G:A Identity +NM_001318194.2:c.102G>A NP_001305123.1:p.Gln34= NC_000016.10:2044722:C:T p.(Gln34=) NC_000016.10:2044722:C:T p.(Gln34=) NC_000016.10:2044722:C:T Identity +NM_145046.5:c.129C>T NP_659483.2:p.Asp43= NC_000019.10:16495814:G:A p.(Asp43=) NC_000019.10:16495814:G:A p.(Asp43=) NC_000019.10:16495814:G:A Identity +NM_001318520.2:c.492C>T NP_001305449.1:p.Leu164= NC_000018.10:70127656:G:A p.(Leu164=) NC_000018.10:70127656:G:A p.(Leu164=) NC_000018.10:70127656:G:A Identity +NM_001366624.2:c.465C>T NP_001353553.1:p.Ala155= NC_000013.11:76996026:C:T p.(Ala155=) NC_000013.11:76996026:C:T p.(Ala155=) NC_000013.11:76996026:C:T Identity +NM_000018.4:c.1893C>T NP_000009.1:p.Tyr631= NC_000017.11:7225021:C:T p.(Tyr631=) NC_000017.11:7225021:C:T p.(Tyr631=) NC_000017.11:7225021:C:T Identity +NM_001283009.2:c.219C>T NP_001269938.1:p.Ala73= NC_000020.11:63661413:C:T p.(Ala73=) NC_000020.11:63661413:C:T p.(Ala73=) NC_000020.11:63661413:C:T Identity +NM_001031847.3:c.2013C>T NP_001027017.1:p.Ser671= NC_000011.10:68761549:G:A p.(Ser671=) NC_000011.10:68761549:G:A p.(Ser671=) NC_000011.10:68761549:G:A Identity +NM_000023.4:c.327T>C NP_000014.1:p.Asn109= NC_000017.11:50167960:T:C p.(Asn109=) NC_000017.11:50167960:T:C p.(Asn109=) NC_000017.11:50167960:T:C Identity +NM_000724.4:c.1776T>C NP_000715.2:p.Asn592= NC_000010.11:18539681:T:C p.(Asn592=) NC_000010.11:18539681:T:C p.(Asn592=) NC_000010.11:18539681:T:C Identity +NM_001144881.2:c.1470C>A NP_001138353.1:p.Gly490= NC_000012.12:42464563:G:T p.(Gly490=) NC_000012.12:42464563:G:T p.(Gly490=) NC_000012.12:42464563:G:T Identity +NM_000268.4:c.939C>A NP_000259.1:p.Ala313= NC_000022.11:29668385:C:A p.(Ala313=) NC_000022.11:29668385:C:A p.(Ala313=) NC_000022.11:29668385:C:A Identity +NM_000136.3:c.765G>A NP_000127.2:p.Leu255= NC_000009.12:95135423:C:T p.(Leu255=) NC_000009.12:95135423:C:T p.(Leu255=) NC_000009.12:95135423:C:T Identity +NM_000195.5:c.1677C>T NP_000186.2:p.Leu559= NC_000010.11:98422434:G:A p.(Leu559=) NC_000010.11:98422434:G:A p.(Leu559=) NC_000010.11:98422434:G:A Identity +NM_001376.5:c.5349C>T NP_001367.2:p.Ser1783= NC_000014.9:102005151:C:T p.(Ser1783=) NC_000014.9:102005151:C:T p.(Ser1783=) NC_000014.9:102005151:C:T Identity +NM_005252.4:c.477G>A NP_005243.1:p.Arg159= NC_000014.9:75280642:G:A p.(Arg159=) NC_000014.9:75280642:G:A p.(Arg159=) NC_000014.9:75280642:G:A Identity +NM_001204425.2:c.4422A>G NP_001191354.2:p.Thr1474= NC_000013.11:102875401:A:G p.(Thr1474=) NC_000013.11:102875401:A:G p.(Thr1474=) NC_000013.11:102875401:A:G Identity +NM_001363690.2:c.273C>T NP_001350619.1:p.Thr91= NC_000001.11:113907078:C:T p.(Thr91=) NC_000001.11:113907078:C:T p.(Thr91=) NC_000001.11:113907078:C:T Identity +NM_001363850.1:c.1191C>G NP_001350779.1:p.Ala397= NC_000016.10:89532502:C:G p.(Ala397=) NC_000016.10:89532502:C:G p.(Ala397=) NC_000016.10:89532502:C:G Identity +NM_001171930.2:c.1524G>C NP_001165401.1:p.Leu508= NC_000010.11:71677464:G:C p.(Leu508=) NC_000010.11:71677464:G:C p.(Leu508=) NC_000010.11:71677464:G:C Identity +NM_021167.5:c.27C>T NP_066990.3:p.Cys9= NC_000007.14:92447755:C:T p.(Cys9=) NC_000007.14:92447755:C:T p.(Cys9=) NC_000007.14:92447755:C:T Identity +LRG_830t1:c.1020C>G LRG_830p1:p.Val340= NC_000011.10:6616369:G:C ERR:Data provider error: ValueError: Transcript LRG_830t1 not found ERR:Data provider error: ValueError: Transcript LRG_830t1 not found ERR:AlignmentMapper(tx_ac=LRG_830t1, alt_ac=LRG_830t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_830t1, alt_ac=LRG_830t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_830t1 not found +NM_001142864.4:c.1656C>T NP_001136336.2:p.Thr552= NC_000016.10:88735147:G:A p.(Thr552=) NC_000016.10:88735147:G:A p.(Thr552=) NC_000016.10:88735147:G:A Identity +NM_000158.4:c.78C>G NP_000149.4:p.Pro26= NC_000003.12:81761439:G:C p.(Pro26=) NC_000003.12:81761439:G:C p.(Pro26=) NC_000003.12:81761439:G:C Identity +NM_000487.6:c.990C>T NP_000478.3:p.His330= NC_000022.11:50626052:G:A p.(His330=) NC_000022.11:50626052:G:A p.(His330=) NC_000022.11:50626052:G:A Identity +NM_001330358.2:c.1662A>G NP_001317287.1:p.Leu554= NC_000001.11:11792370:T:C p.(Leu554=) NC_000001.11:11792370:T:C p.(Leu554=) NC_000001.11:11792370:T:C Identity +NM_001166212.2:c.261C>T NP_001159684.1:p.Leu87= NC_000011.10:67365522:G:A p.(Leu87=) NC_000011.10:67365522:G:A p.(Leu87=) NC_000011.10:67365522:G:A Identity +NM_001304349.2:c.768C>T NP_001291278.1:p.Tyr256= NC_000019.10:14097769:G:A p.(Tyr256=) NC_000019.10:14097769:G:A p.(Tyr256=) NC_000019.10:14097769:G:A Identity +NM_000378.6:c.444G>A NP_000369.4:p.Glu148= NC_000011.10:32434916:C:T p.(Glu148=) NC_000011.10:32434916:C:T p.(Glu148=) NC_000011.10:32434916:C:T Identity +NM_000263.4:c.927T>C NP_000254.2:p.Tyr309= NC_000017.11:42541111:T:C p.(Tyr309=) NC_000017.11:42541111:T:C p.(Tyr309=) NC_000017.11:42541111:T:C Identity +NM_001042681.2:c.3513G>A NP_001036146.1:p.Lys1171= NC_000001.11:8359868:C:T p.(Lys1171=) NC_000001.11:8359868:C:T p.(Lys1171=) NC_000001.11:8359868:C:T Identity +NM_001293557.2:c.2931G>A NP_001280486.1:p.Leu977= NC_000016.10:50729862:G:A p.(Leu977=) NC_000016.10:50729862:G:A p.(Leu977=) NC_000016.10:50729862:G:A Identity +NM_002439.5:c.150C>A NP_002430.3:p.Gly50= NC_000005.10:80654876:C:A p.(Gly50=) NC_000005.10:80654876:C:A p.(Gly50=) NC_000005.10:80654876:C:A Identity +NM_002439.5:c.285G>A NP_002430.3:p.Gly95= NC_000005.10:80656457:G:A p.(Gly95=) NC_000005.10:80656457:G:A p.(Gly95=) NC_000005.10:80656457:G:A Identity +NM_001018037.2:c.2304A>G NP_001018047.1:p.Gly768= NC_000009.12:77260100:A:G p.(Gly768=) NC_000009.12:77260100:A:G p.(Gly768=) NC_000009.12:77260100:A:G Identity +NM_000478.6:c.1104G>A NP_000469.3:p.Ser368= NC_000001.11:21575838:G:A p.(Ser368=) NC_000001.11:21575838:G:A p.(Ser368=) NC_000001.11:21575838:G:A Identity +NM_000244.4:c.1494G>T NP_000235.3:p.Pro498= NC_000011.10:64804687:C:A p.(Pro498=) NC_000011.10:64804687:C:A p.(Pro498=) NC_000011.10:64804687:C:A Identity +NM_206933.4:c.10854C>T NP_996816.3:p.Gly3618= NC_000001.11:215779927:G:A p.(Gly3618=) NC_000001.11:215779927:G:A p.(Gly3618=) NC_000001.11:215779927:G:A Identity +NM_000019.4:c.384A>G NP_000010.1:p.Ser128= NC_000011.10:108135190:A:G p.(Ser128=) NC_000011.10:108135190:A:G p.(Ser128=) NC_000011.10:108135190:A:G Identity +NM_000263.4:c.771C>T NP_000254.2:p.Phe257= NC_000017.11:42540955:C:T p.(Phe257=) NC_000017.11:42540955:C:T p.(Phe257=) NC_000017.11:42540955:C:T Identity +NM_001142800.2:c.7779G>C NP_001136272.1:p.Leu2593= NC_000006.12:63778124:C:G p.(Leu2593=) NC_000006.12:63778124:C:G p.(Leu2593=) NC_000006.12:63778124:C:G Identity +NM_003632.3:c.87G>A NP_003623.1:p.Leu29= NC_000017.11:42683839:G:A p.(Leu29=) NC_000017.11:42683839:G:A p.(Leu29=) NC_000017.11:42683839:G:A Identity +NM_000287.4:c.735A>G NP_000278.3:p.Leu245= NC_000006.12:42978415:T:C p.(Leu245=) NC_000006.12:42978415:T:C p.(Leu245=) NC_000006.12:42978415:T:C Identity +NM_005663.5:c.150G>C NP_005654.4:p.Ser50= NC_000004.12:2008809:C:G p.(Ser50=) NC_000004.12:2008809:C:G p.(Ser50=) NC_000004.12:2008809:C:G Identity +NM_000016.6:c.126C>T NP_000007.1:p.Thr42= NC_000001.11:75732650:C:T p.(Thr42=) NC_000001.11:75732650:C:T p.(Thr42=) NC_000001.11:75732650:C:T Identity +NM_025145.7:c.1197A>G NP_079421.5:p.Gly399= NC_000010.11:104197936:T:C p.(Gly399=) NC_000010.11:104197936:T:C p.(Gly399=) NC_000010.11:104197936:T:C Identity +NM_000246.4:c.1389T>C NP_000237.2:p.Tyr463= NC_000016.10:10906880:T:C p.(Tyr463=) NC_000016.10:10906880:T:C p.(Tyr463=) NC_000016.10:10906880:T:C Identity +NM_024721.5:c.2010G>T NP_078997.4:p.Pro670= NC_000008.11:76706097:G:T p.(Pro670=) NC_000008.11:76706097:G:T p.(Pro670=) NC_000008.11:76706097:G:T Identity +NM_000252.3:c.954G>C NP_000243.1:p.Arg318= NC_000023.11:150649801:G:C p.(Arg318=) NC_000023.11:150649801:G:C p.(Arg318=) NC_000023.11:150649801:G:C Identity +NM_006623.4:c.1254C>T NP_006614.2:p.Phe418= NC_000001.11:119742850:C:T p.(Phe418=) NC_000001.11:119742850:C:T p.(Phe418=) NC_000001.11:119742850:C:T Identity +NM_000068.4:c.4737C>T NP_000059.3:p.Ile1579= NC_000019.10:13255124:G:A p.(Ile1579=) NC_000019.10:13255124:G:A p.(Ile1579=) NC_000019.10:13255124:G:A Identity +NM_025077.4:c.930C>T NP_079353.3:p.Pro310= NC_000001.11:45343098:C:T p.(Pro310=) NC_000001.11:45343098:C:T p.(Pro310=) NC_000001.11:45343098:C:T Identity +NM_006015.6:c.3912C>A NP_006006.3:p.Ala1304= NC_000001.11:26773624:C:A p.(Ala1304=) NC_000001.11:26773624:C:A p.(Ala1304=) NC_000001.11:26773624:C:A Identity +NM_005559.4:c.3168C>T NP_005550.2:p.Cys1056= NC_000018.10:7014009:G:A p.(Cys1056=) NC_000018.10:7014009:G:A p.(Cys1056=) NC_000018.10:7014009:G:A Identity +NM_000720.4:c.1614C>T NP_000711.1:p.Ala538= NC_000003.12:53722361:C:T p.(Ala538=) NC_000003.12:53722361:C:T p.(Ala538=) NC_000003.12:53722361:C:T Identity +NM_001199138.2:c.2589T>C NP_001186067.1:p.Asp863= NC_000002.12:32236271:A:G p.(Asp863=) NC_000002.12:32236271:A:G p.(Asp863=) NC_000002.12:32236271:A:G Identity +NM_001378454.1:c.5310G>A NP_001365383.1:p.Gln1770= NC_000002.12:73451836:G:A p.(Gln1770=) NC_000002.12:73451836:G:A p.(Gln1770=) NC_000002.12:73451836:G:A Identity +NM_021942.6:c.2511G>A NP_068761.4:p.Leu837= NC_000004.12:183694605:G:A p.(Leu837=) NC_000004.12:183694605:G:A p.(Leu837=) NC_000004.12:183694605:G:A Identity +NM_002224.4:c.3762C>T NP_002215.2:p.Leu1254= NC_000006.12:33678533:C:T p.(Leu1254=) NC_000006.12:33678533:C:T p.(Leu1254=) NC_000006.12:33678533:C:T Identity +NM_000414.4:c.1875C>G NP_000405.1:p.Thr625= NC_000005.10:119531285:C:G p.(Thr625=) NC_000005.10:119531285:C:G p.(Thr625=) NC_000005.10:119531285:C:G Identity +NM_017890.5:c.8778A>G NP_060360.3:p.Gly2926= NC_000008.11:99819492:A:G p.(Gly2926=) NC_000008.11:99819492:A:G p.(Gly2926=) NC_000008.11:99819492:A:G Identity +NM_001193640.2:c.996C>T NP_001180569.1:p.Gly332= NC_000001.11:197421159:C:T p.(Gly332=) NC_000001.11:197421159:C:T p.(Gly332=) NC_000001.11:197421159:C:T Identity +NM_001048171.2:c.973C>T NP_001041636.2:p.Leu325= NC_000001.11:45331789:G:A p.(Leu325=) NC_000001.11:45331789:G:A p.(Leu325=) NC_000001.11:45331789:G:A Identity +NM_000552.5:c.2373G>A NP_000543.3:p.Thr791= NC_000012.12:6044359:C:T p.(Thr791=) NC_000012.12:6044359:C:T p.(Thr791=) NC_000012.12:6044359:C:T Identity +NM_000552.5:c.255C>T NP_000543.3:p.Ser85= NC_000012.12:6110933:G:A p.(Ser85=) NC_000012.12:6110933:G:A p.(Ser85=) NC_000012.12:6110933:G:A Identity +NM_000551.4:c.640T>A NP_000542.1:p.Ter214Arg NC_000003.12:10149962:T:A p.(Ter214ArgextTer14) NC_000003.12:10149962:T:A p.(Ter214ArgextTer14) NC_000003.12:10149962:T:A Analogous +NM_001178133.2:c.37_42del NP_001171604.1:p.Thr13_Ala14del NC_000010.11:102504188:ACCGCG: p.(Thr13_Ala14del) NC_000010.11:102504188:ACCGCG: p.(Thr13_Ala14del) NC_000010.11:102504188:ACCGCG: Identity +NM_004012.4:c.39G>A NP_004003.2:p.Lys13= NC_000023.11:32412018:C:T p.(Lys13=) NC_000023.11:32412018:C:T p.(Lys13=) NC_000023.11:32412018:C:T Identity +NM_001961.4:c.837C>T NP_001952.1:p.Ser279= NC_000019.10:3982006:G:A p.(Ser279=) NC_000019.10:3982006:G:A p.(Ser279=) NC_000019.10:3982006:G:A Identity +NM_000261.2:c.1317C>T NP_000252.1:p.Val439= NC_000001.11:171636122:G:A p.(Val439=) NC_000001.11:171636122:G:A p.(Val439=) NC_000001.11:171636122:G:A Identity +NM_000143.4:c.96C>A NP_000134.2:p.Ala32= NC_000001.11:241519626:G:T p.(Ala32=) NC_000001.11:241519626:G:T p.(Ala32=) NC_000001.11:241519626:G:T Identity +NM_001127487.2:c.3015G>A NP_001120959.1:p.Ser1005= NC_000007.14:128844088:G:A p.(Ser1005=) NC_000007.14:128844088:G:A p.(Ser1005=) NC_000007.14:128844088:G:A Identity +NM_000264.5:c.1518C>T NP_000255.2:p.Leu506= NC_000009.12:95476842:G:A p.(Leu506=) NC_000009.12:95476842:G:A p.(Leu506=) NC_000009.12:95476842:G:A Identity +NM_001072.4:c.105C>T NP_001063.2:p.Asp35= NC_000002.12:233693108:C:T p.(Asp35=) NC_000002.12:233693108:C:T p.(Asp35=) NC_000002.12:233693108:C:T Identity +NM_018706.7:c.876C>T NP_061176.4:p.Ala292= NC_000010.11:12089143:C:T p.(Ala292=) NC_000010.11:12089143:C:T p.(Ala292=) NC_000010.11:12089143:C:T Identity +NM_001377948.1:c.891C>T NP_001364877.1:p.Thr297= NC_000014.9:21324819:C:T p.(Thr297=) NC_000014.9:21324819:C:T p.(Thr297=) NC_000014.9:21324819:C:T Identity +NM_003036.4:c.1317C>T NP_003027.1:p.Val439= NC_000001.11:2303944:C:T p.(Val439=) NC_000001.11:2303944:C:T p.(Val439=) NC_000001.11:2303944:C:T Identity +NM_001127505.3:c.576_581dup NP_001120977.1:p.Phe193_Lys194insAsnPhe NC_000008.11:18062327:TTGAAG:TTGAAGTTGAAG p.(Phe193_Lys194insAsnPhe) NC_000008.11:18062327:TTGAAG:TTGAAGTTGAAG p.(Phe193_Lys194insAsnPhe) ERR:SPDI Identity +NM_000179.3:c.1065T>G NP_000170.1:p.Gly355= NC_000002.12:47799047:T:G p.(Gly355=) NC_000002.12:47799047:T:G p.(Gly355=) NC_000002.12:47799047:T:G Identity +NM_004329.3:c.1122G>C NP_004320.2:p.Gly374= NC_000010.11:86919424:G:C p.(Gly374=) NC_000010.11:86919424:G:C p.(Gly374=) NC_000010.11:86919424:G:C Identity +NM_000059.4:c.1134T>C NP_000050.3:p.Ser378= NC_000013.11:32332611:T:C p.(Ser378=) NC_000013.11:32332611:T:C p.(Ser378=) NC_000013.11:32332611:T:C Identity +NM_004360.5:c.1176A>T NP_004351.1:p.Val392= NC_000016.10:68813350:A:T p.(Val392=) NC_000016.10:68813350:A:T p.(Val392=) NC_000016.10:68813350:A:T Identity +NM_000059.4:c.120A>T NP_000050.3:p.Pro40= NC_000013.11:32319128:A:T p.(Pro40=) NC_000013.11:32319128:A:T p.(Pro40=) NC_000013.11:32319128:A:T Identity +NM_001302960.2:c.120G>A NP_001289889.1:p.Thr40= NC_000011.10:67487025:G:A p.(Thr40=) NC_000011.10:67487025:G:A p.(Thr40=) NC_000011.10:67487025:G:A Identity +NM_003079.5:c.1227A>G NP_003070.3:p.Lys409= NC_000017.11:40628793:T:C p.(Lys409=) NC_000017.11:40628793:T:C p.(Lys409=) NC_000017.11:40628793:T:C Identity +NM_000465.4:c.1263T>C NP_000456.2:p.Ala421= NC_000002.12:214780610:A:G p.(Ala421=) NC_000002.12:214780610:A:G p.(Ala421=) NC_000002.12:214780610:A:G Identity +NM_001195573.1:c.132A>G NP_001182502.1:p.Pro44= NC_000014.9:95133326:T:C p.(Pro44=) NC_000014.9:95133326:T:C p.(Pro44=) NC_000014.9:95133326:T:C Identity +NM_000323.2:c.1407C>T NP_000314.1:p.Asp469= NC_000010.11:43111349:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_004329.3:c.156A>G NP_004320.2:p.Pro52= NC_000010.11:86890149:A:G p.(Pro52=) NC_000010.11:86890149:A:G p.(Pro52=) NC_000010.11:86890149:A:G Identity +NM_000244.4:c.1665G>A NP_000235.3:p.Val555= NC_000011.10:64804516:C:T p.(Val555=) NC_000011.10:64804516:C:T p.(Val555=) NC_000011.10:64804516:C:T Identity +NM_000251.3:c.1851T>A NP_000242.1:p.Val617= NC_000002.12:47475115:T:A p.(Val617=) NC_000002.12:47475115:T:A p.(Val617=) NC_000002.12:47475115:T:A Identity +NM_032043.3:c.1917T>C NP_114432.2:p.His639= NC_000017.11:61780278:A:G p.(His639=) NC_000017.11:61780278:A:G p.(His639=) NC_000017.11:61780278:A:G Identity +NM_000314.8:c.195del NP_000305.3:p.His64_Tyr65insTer NC_000010.11:87925542:C: p.(Tyr65Ter) NC_000010.11:87925542:C: p.(Tyr65Ter) NC_000010.11:87925542:C: Analogous +NM_000251.3:c.222T>C NP_000242.1:p.Asn74= NC_000002.12:47408410:T:C p.(Asn74=) NC_000002.12:47408410:T:C p.(Asn74=) NC_000002.12:47408410:T:C Identity +NM_000057.4:c.2277C>T NP_000048.1:p.Ile759= NC_000015.10:90766992:C:T p.(Ile759=) NC_000015.10:90766992:C:T p.(Ile759=) NC_000015.10:90766992:C:T Identity +NM_000321.3:c.2349T>A NP_000312.2:p.Pro783= NC_000013.11:48465227:T:A p.(Pro783=) NC_000013.11:48465227:T:A p.(Pro783=) NC_000013.11:48465227:T:A Identity +NM_000051.4:c.243T>C NP_000042.3:p.Asn81= NC_000011.10:108229234:T:C p.(Asn81=) NC_000011.10:108229234:T:C p.(Asn81=) NC_000011.10:108229234:T:C Identity +NM_000057.4:c.2454C>A NP_000048.1:p.Arg818= NC_000015.10:90769484:C:A p.(Arg818=) NC_000015.10:90769484:C:A p.(Arg818=) NC_000015.10:90769484:C:A Identity +NM_001128844.3:c.2607C>T NP_001122316.1:p.Ile869= NC_000019.10:11019691:C:T p.(Ile869=) NC_000019.10:11019691:C:T p.(Ile869=) NC_000019.10:11019691:C:T Identity +NM_001128844.3:c.2613C>G NP_001122316.1:p.Ala871= NC_000019.10:11019697:C:G p.(Ala871=) NC_000019.10:11019697:C:G p.(Ala871=) NC_000019.10:11019697:C:G Identity +NM_000059.4:c.2703T>C NP_000050.3:p.Leu901= NC_000013.11:32337057:T:C p.(Leu901=) NC_000013.11:32337057:T:C p.(Leu901=) NC_000013.11:32337057:T:C Identity +NM_001276289.2:c.276A>G NP_001263218.1:p.Lys92= NC_000017.11:68522853:A:G p.(Lys92=) NC_000017.11:68522853:A:G p.(Lys92=) NC_000017.11:68522853:A:G Identity +NM_002439.5:c.2814G>A NP_002430.3:p.Arg938= NC_000005.10:80854129:G:A p.(Arg938=) NC_000005.10:80854129:G:A p.(Arg938=) NC_000005.10:80854129:G:A Identity +NM_001302959.2:c.108G>A NP_001289888.1:p.Val36= NC_000011.10:67489271:G:A p.(Val36=) NC_000011.10:67489271:G:A p.(Val36=) NC_000011.10:67489271:G:A Identity +NM_000323.2:c.843C>T NP_000314.1:p.Ala281= NC_000010.11:43105168:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000038.6:c.8520G>C NP_000029.2:p.Val2840= NC_000005.10:112844113:G:C p.(Val2840=) NC_000005.10:112844113:G:C p.(Val2840=) NC_000005.10:112844113:G:C Identity +NM_000059.4:c.3027C>T NP_000050.3:p.Phe1009= NC_000013.11:32337381:C:T p.(Phe1009=) NC_000013.11:32337381:C:T p.(Phe1009=) NC_000013.11:32337381:C:T Identity +NM_000249.4:c.888A>G NP_000240.1:p.Leu296= NC_000003.12:37020312:A:G p.(Leu296=) NC_000003.12:37020312:A:G p.(Leu296=) NC_000003.12:37020312:A:G Identity +NM_000143.4:c.906C>T NP_000134.2:p.Gly302= NC_000001.11:241504243:G:A p.(Gly302=) NC_000001.11:241504243:G:A p.(Gly302=) NC_000001.11:241504243:G:A Identity +NM_000136.3:c.909G>C NP_000127.2:p.Leu303= NC_000009.12:95125172:C:G p.(Leu303=) NC_000009.12:95125172:C:G p.(Leu303=) NC_000009.12:95125172:C:G Identity +NM_032043.3:c.975A>G NP_114432.2:p.Leu325= NC_000017.11:61801417:T:C p.(Leu325=) NC_000017.11:61801417:T:C p.(Leu325=) NC_000017.11:61801417:T:C Identity +NM_001353765.2:c.156G>A NP_001340694.1:p.Arg52= NC_000002.12:29222606:C:T p.(Arg52=) NC_000002.12:29222606:C:T p.(Arg52=) NC_000002.12:29222606:C:T Identity +NM_000059.4:c.3474A>G NP_000050.3:p.Glu1158= NC_000013.11:32337828:A:G p.(Glu1158=) NC_000013.11:32337828:A:G p.(Glu1158=) NC_000013.11:32337828:A:G Identity +NM_001407860.1:c.3472del NP_001394789.1:p.Glu1157_Ile1158insTer NC_000017.11:43092055:TTT:TT p.(Ile1158Ter) NC_000017.11:43092055:TTT:TT p.(Ile1158Ter) NC_000017.11:43092055:T: Analogous +NM_005732.4:c.3543T>C NP_005723.2:p.Asn1181= NC_000005.10:132638147:T:C p.(Asn1181=) NC_000005.10:132638147:T:C p.(Asn1181=) NC_000005.10:132638147:T:C Identity +NM_000321.3:c.354T>A NP_000312.2:p.Thr118= NC_000013.11:48342687:T:A p.(Thr118=) NC_000013.11:48342687:T:A p.(Thr118=) NC_000013.11:48342687:T:A Identity +NM_001320415.2:c.171C>T NP_001307344.1:p.Asn57= NC_000014.9:65076598:G:A p.(Asn57=) NC_000014.9:65076598:G:A p.(Asn57=) NC_000014.9:65076598:G:A Identity +NM_001353765.2:c.459G>C NP_001340694.1:p.Leu153= NC_000002.12:29214063:C:G p.(Leu153=) NC_000002.12:29214063:C:G p.(Leu153=) NC_000002.12:29214063:C:G Identity +NM_001024688.3:c.132T>G NP_001019859.1:p.Thr44= NC_000008.11:89980835:A:C p.(Thr44=) NC_000008.11:89980835:A:C p.(Thr44=) NC_000008.11:89980835:A:C Identity +NM_001195573.1:c.381A>G NP_001182502.1:p.Leu127= NC_000014.9:95131565:T:C p.(Leu127=) NC_000014.9:95131565:T:C p.(Leu127=) NC_000014.9:95131565:T:C Identity +NM_001128844.3:c.3942T>C NP_001122316.1:p.Asp1314= NC_000019.10:11034190:T:C p.(Asp1314=) NC_000019.10:11034190:T:C p.(Asp1314=) NC_000019.10:11034190:T:C Identity +NM_001407571.1:c.3807G>A NP_001394500.1:p.Leu1269= NC_000017.11:43091510:C:T p.(Leu1269=) NC_000017.11:43091510:C:T p.(Leu1269=) NC_000017.11:43091510:C:T Identity +NM_000535.7:c.444C>A NP_000526.2:p.Pro148= NC_000007.14:6002545:G:T p.(Pro148=) NC_000007.14:6002545:G:T p.(Pro148=) NC_000007.14:6002545:G:T Identity +NM_000038.6:c.4670_4678dup NP_000029.2:p.Ser1559_Glu1560insValAspSer NC_000005.10:112840263:TTGATTCTG:TTGATTCTGTTGATTCTG p.(Ser1559_Glu1560insValAspSer) NC_000005.10:112840263:TTGATTCTG:TTGATTCTGTTGATTCTG p.(Ser1559_Glu1560insValAspSer) ERR:SPDI Identity +NM_000051.4:c.4734G>A NP_000042.3:p.Gln1578= NC_000011.10:108293434:G:A p.(Gln1578=) NC_000011.10:108293434:G:A p.(Gln1578=) NC_000011.10:108293434:G:A Identity +NM_001195573.1:c.4756C>T NP_001182502.1:p.Leu1586= NC_000014.9:95096163:G:A p.(Leu1586=) NC_000014.9:95096163:G:A p.(Leu1586=) NC_000014.9:95096163:G:A Identity +NM_001195573.1:c.4762C>T NP_001182502.1:p.Leu1588= NC_000014.9:95096157:G:A p.(Leu1588=) NC_000014.9:95096157:G:A p.(Leu1588=) NC_000014.9:95096157:G:A Identity +NM_001128844.3:c.4788G>A NP_001122316.1:p.Lys1596= NC_000019.10:11060063:G:A p.(Lys1596=) NC_000019.10:11060063:G:A p.(Lys1596=) NC_000019.10:11060063:G:A Identity +NM_001193304.3:c.489G>A NP_001180233.1:p.Lys163= NC_000002.12:96254035:C:T p.(Lys163=) NC_000002.12:96254035:C:T p.(Lys163=) NC_000002.12:96254035:C:T Identity +NM_000264.5:c.48C>A NP_000255.2:p.Gly16= NC_000009.12:95508313:G:T p.(Gly16=) NC_000009.12:95508313:G:T p.(Gly16=) NC_000009.12:95508313:G:T Identity +NM_000051.4:c.51T>C NP_000042.3:p.His17= NC_000011.10:108227674:T:C p.(His17=) NC_000011.10:108227674:T:C p.(His17=) NC_000011.10:108227674:T:C Identity +NM_001195573.1:c.5242C>T NP_001182502.1:p.Leu1748= NC_000014.9:95094009:G:A p.(Leu1748=) NC_000014.9:95094009:G:A p.(Leu1748=) NC_000014.9:95094009:G:A Identity +NM_000038.6:c.5559T>C NP_000029.2:p.Pro1853= NC_000005.10:112841152:T:C p.(Pro1853=) NC_000005.10:112841152:T:C p.(Pro1853=) NC_000005.10:112841152:T:C Identity +NM_000465.4:c.576T>C NP_000456.2:p.Ser192= NC_000002.12:214781297:A:G p.(Ser192=) NC_000002.12:214781297:A:G p.(Ser192=) NC_000002.12:214781297:A:G Identity +NM_000057.4:c.60A>T NP_000048.1:p.Thr20= NC_000015.10:90747451:A:T p.(Thr20=) NC_000015.10:90747451:A:T p.(Thr20=) NC_000015.10:90747451:A:T Identity +NM_006361.6:c.633C>T NP_006352.2:p.Cys211= NC_000017.11:48727011:G:A p.(Cys211=) NC_000017.11:48727011:G:A p.(Cys211=) NC_000017.11:48727011:G:A Identity +NM_001318193.2:c.39G>C NP_001305122.2:p.Arg13= NC_000016.10:2047784:C:G p.(Arg13=) NC_000016.10:2047784:C:G p.(Arg13=) NC_000016.10:2047784:C:G Identity +NM_000059.4:c.7008C>T NP_000050.3:p.Arg2336= NC_000013.11:32354860:C:T p.(Arg2336=) NC_000013.11:32354860:C:T p.(Arg2336=) NC_000013.11:32354860:C:T Identity +NM_000059.4:c.7497A>G NP_000050.3:p.Gln2499= NC_000013.11:32356488:A:G p.(Gln2499=) NC_000013.11:32356488:A:G p.(Gln2499=) NC_000013.11:32356488:A:G Identity +NM_000059.4:c.7557T>C NP_000050.3:p.Pro2519= NC_000013.11:32356548:T:C p.(Pro2519=) NC_000013.11:32356548:T:C p.(Pro2519=) NC_000013.11:32356548:T:C Identity +NM_001128844.3:c.777C>T NP_001122316.1:p.Asn259= NC_000019.10:10986920:C:T p.(Asn259=) NC_000019.10:10986920:C:T p.(Asn259=) NC_000019.10:10986920:C:T Identity +NM_003924.4:c.787C>T NP_003915.2:p.Leu263= NC_000004.12:41745964:G:A p.(Leu263=) NC_000004.12:41745964:G:A p.(Leu263=) NC_000004.12:41745964:G:A Identity +NM_000136.3:c.82T>C NP_000127.2:p.Leu28= NC_000009.12:95249209:A:G p.(Leu28=) NC_000009.12:95249209:A:G p.(Leu28=) NC_000009.12:95249209:A:G Identity +NM_000391.4:c.1425G>A NP_000382.3:p.Ser475= NC_000011.10:6615170:C:T p.(Ser475=) NC_000011.10:6615170:C:T p.(Ser475=) NC_000011.10:6615170:C:T Identity +NM_000914.5:c.549C>T NP_000905.3:p.Pro183= NC_000006.12:154090083:C:T p.(Pro183=) NC_000006.12:154090083:C:T p.(Pro183=) NC_000006.12:154090083:C:T Identity +NM_000106.6:c.696T>C NP_000097.3:p.His232= NC_000022.11:42128320:A:G p.(His232=) NC_000022.11:42128320:A:G p.(His232=) NC_000022.11:42128320:A:G Identity +NM_001319946.2:c.582G>A NP_001306875.1:p.Pro194= NC_000001.11:113911551:G:A p.(Pro194=) NC_000001.11:113911551:G:A p.(Pro194=) NC_000001.11:113911551:G:A Identity +NM_020964.3:c.3384G>A NP_066015.2:p.Gln1128= NC_000018.10:45916437:C:T p.(Gln1128=) NC_000018.10:45916437:C:T p.(Gln1128=) NC_000018.10:45916437:C:T Identity +NM_000038.6:c.3706_3723dup NP_000029.2:p.Ala1236_Gly1241dup NC_000005.10:112839298:TGCACAGAGTAGAAGTGGT:TGCACAGAGTAGAAGTGGTGCACAGAGTAGAAGTGGT p.(Ala1236_Gly1241dup) NC_000005.10:112839298:TGCACAGAGTAGAAGTGGT:TGCACAGAGTAGAAGTGGTGCACAGAGTAGAAGTGGT p.(Ala1236_Gly1241dup) ERR:SPDI Identity +NM_001007188.4:c.414A>G NP_001007189.1:p.Arg138= NC_000022.11:31778098:A:G p.(Arg138=) NC_000022.11:31778098:A:G p.(Arg138=) NC_000022.11:31778098:A:G Identity +NM_003705.5:c.525C>T NP_003696.2:p.Gly175= NC_000002.12:171837207:G:A p.(Gly175=) NC_000002.12:171837207:G:A p.(Gly175=) NC_000002.12:171837207:G:A Identity +NM_001308122.2:c.690C>T NP_001295051.1:p.Gly230= NC_000005.10:132384266:C:T p.(Gly230=) NC_000005.10:132384266:C:T p.(Gly230=) NC_000005.10:132384266:C:T Identity +NM_000264.5:c.216C>T NP_000255.2:p.Gly72= NC_000009.12:95506584:G:A p.(Gly72=) NC_000009.12:95506584:G:A p.(Gly72=) NC_000009.12:95506584:G:A Identity +NM_000433.4:c.609G>A NP_000424.2:p.Thr203= NC_000001.11:183573184:C:T p.(Thr203=) NC_000001.11:183573184:C:T p.(Thr203=) NC_000001.11:183573184:C:T Identity +NM_001365536.1:c.1320_1325dup NP_001352465.1:p.Ala445_Glu446insAlaAla NC_000002.12:166286612:GCTGCA:GCTGCAGCTGCA p.(Ala444_Ala445dup) NC_000002.12:166286612:GCTGCA:GCTGCAGCTGCA p.(Ala444_Ala445dup) ERR:SPDI Analogous +NM_001354723.2:c.507G>T NP_001341652.1:p.Gly169= NC_000003.12:10142928:G:T p.(Gly169=) NC_000003.12:10142928:G:T p.(Gly169=) NC_000003.12:10142928:G:T Identity +NM_000314.8:c.823del NP_000305.3:p.Trp274_Val275insTer NC_000010.11:87960912:GGG:GG p.(Val275Ter) NC_000010.11:87960912:GGG:GG p.(Val275Ter) NC_000010.11:87960914:G: Analogous +NM_000069.3:c.4308G>T NP_000060.2:p.Gly1436= NC_000001.11:201049032:C:A p.(Gly1436=) NC_000001.11:201049032:C:A p.(Gly1436=) NC_000001.11:201049032:C:A Identity +NM_003362.4:c.151_155delinsCAGGAGGA NP_003353.1:p.Thr51_Pro52delinsGlnGluGlu NC_000012.12:109098476:ACGCC:CAGGAGGA p.(Thr51_Pro52delinsGlnGluGlu) NC_000012.12:109098476:ACGCC:CAGGAGGA p.(Thr51_Pro52delinsGlnGluGlu) NC_000012.12:109098476:ACGCC:CAGGAGGA Identity +NM_000551.4:c.238_246del NP_000542.1:p.Ser80_Arg82del NC_000003.12:10142081:CGCAGTCCGCGC:CGC p.(Ser80_Arg82del) NC_000003.12:10142081:CGCAGTCCGCGC:CGC p.(Ser80_Arg82del) NC_000003.12:10142084:AGTCCGCGC: Identity +NM_001171930.2:c.2952T>C NP_001165401.1:p.His984= NC_000010.11:71705128:T:C p.(His984=) NC_000010.11:71705128:T:C p.(His984=) NC_000010.11:71705128:T:C Identity +NM_022124.6:c.6465G>A NP_071407.4:p.Ser2155= NC_000010.11:71793392:G:A p.(Ser2155=) NC_000010.11:71793392:G:A p.(Ser2155=) NC_000010.11:71793392:G:A Identity +NM_001005407.2:c.5670G>A NP_001005407.1:p.Ala1890= NC_000016.10:1218451:G:A p.(Ala1890=) NC_000016.10:1218451:G:A p.(Ala1890=) NC_000016.10:1218451:G:A Identity +NM_001161587.2:c.135G>A NP_001155059.1:p.Thr45= NC_000019.10:48991466:C:T p.(Thr45=) NC_000019.10:48991466:C:T p.(Thr45=) NC_000019.10:48991466:C:T Identity +NM_001352300.2:c.1149C>T NP_001339229.1:p.Gly383= NC_000022.11:19880651:G:A p.(Gly383=) NC_000022.11:19880651:G:A p.? NC_000022.11:19880651:G:A Identity +NM_002241.5:c.1140A>T NP_002232.2:p.Ter380Cys NC_000001.11:160041392:T:A p.(Ter380CysextTer1) NC_000001.11:160041392:T:A p.(Ter380CysextTer1) NC_000001.11:160041392:T:A Analogous +NM_005045.4:c.7020A>T NP_005036.2:p.Gly2340= NC_000007.14:103539237:T:A p.(Gly2340=) NC_000007.14:103539237:T:A p.(Gly2340=) NC_000007.14:103539237:T:A Identity +NM_000337.6:c.501A>G NP_000328.2:p.Leu167= NC_000005.10:156595049:A:G p.(Leu167=) NC_000005.10:156595049:A:G p.(Leu167=) NC_000005.10:156595049:A:G Identity +NM_001370085.1:c.48C>G NP_001357014.1:p.Ser16= NC_000020.11:765726:G:C p.(Ser16=) NC_000020.11:765726:G:C p.(Ser16=) NC_000020.11:765726:G:C Identity +NM_020041.3:c.45_50dup NP_064425.2:p.Pro16_Leu17dup NC_000004.12:10021379:AGGGGAA:AGGGGAAGGGGAA p.(Pro16_Leu17dup) NC_000004.12:10021379:AGGGGAA:AGGGGAAGGGGAA p.(Pro16_Leu17dup) ERR:SPDI Identity +NM_000171.4:c.126G>A NP_000162.2:p.Leu42= NC_000005.10:151892368:C:T p.(Leu42=) NC_000005.10:151892368:C:T p.(Leu42=) NC_000005.10:151892368:C:T Identity +NM_002471.4:c.3447C>T NP_002462.2:p.Ser1149= NC_000014.9:23390341:G:A p.(Ser1149=) NC_000014.9:23390341:G:A p.(Ser1149=) NC_000014.9:23390341:G:A Identity +NM_001165928.4:c.885G>A NP_001159400.3:p.Val295= NC_000003.12:49531395:G:A p.(Val295=) NC_000003.12:49531395:G:A p.(Val295=) NC_000003.12:49531395:G:A Identity +NM_005458.8:c.249G>A NP_005449.5:p.Leu83= NC_000009.12:98708488:C:T p.(Leu83=) NC_000009.12:98708488:C:T p.(Leu83=) NC_000009.12:98708488:C:T Identity +NM_000199.5:c.1455C>T NP_000190.1:p.Gly485= NC_000017.11:80210505:G:A p.(Gly485=) NC_000017.11:80210505:G:A p.(Gly485=) NC_000017.11:80210505:G:A Identity +NM_001127396.3:c.1330_1331insAAA NP_001120868.1:p.Gly443_Thr444insLys NC_000019.10:7645288:A:AAAA p.(Gly443_Thr444insLys) NC_000019.10:7645288:A:AAA p.(Gly443_Thr444insLys) NC_000019.10:7645289:AC:AAA Identity +NM_206933.4:c.13803A>T NP_996816.3:p.Pro4601= NC_000001.11:215674107:T:A p.(Pro4601=) NC_000001.11:215674107:T:A p.(Pro4601=) NC_000001.11:215674107:T:A Identity +NM_000069.3:c.2931C>T NP_000060.2:p.Asp977= NC_000001.11:201062065:G:A p.(Asp977=) NC_000001.11:201062065:G:A p.(Asp977=) NC_000001.11:201062065:G:A Identity +NM_001100.4:c.1128C>T NP_001091.1:p.Cys376= NC_000001.11:229431504:G:A p.(Cys376=) NC_000001.11:229431504:G:A p.(Cys376=) NC_000001.11:229431504:G:A Identity +NM_001407240.1:c.1638C>A NP_001394169.1:p.Gly546= NC_000001.11:55059496:C:A p.(Gly546=) NC_000001.11:55059496:C:A p.(Gly546=) NC_000001.11:55059496:C:A Identity +NM_030787.4:c.1050T>C NP_110414.1:p.Asn350= NC_000001.11:196998206:T:C p.(Asn350=) NC_000001.11:196998206:T:C p.(Asn350=) NC_000001.11:196998206:T:C Identity +NM_000350.3:c.4329C>T NP_000341.2:p.Arg1443= NC_000001.11:94030450:G:A p.(Arg1443=) NC_000001.11:94030450:G:A p.(Arg1443=) NC_000001.11:94030450:G:A Identity +NM_002389.4:c.1149C>T NP_002380.3:p.Thr383= NC_000001.11:207790273:C:T p.(Thr383=) NC_000001.11:207790273:C:T p.(Thr383=) NC_000001.11:207790273:C:T Identity +NM_001291593.2:c.2181C>T NP_001278522.1:p.Cys727= NC_000001.11:5865197:G:A p.(Cys727=) NC_000001.11:5865197:G:A p.(Cys727=) NC_000001.11:5865197:G:A Identity +NM_000069.3:c.520C>A NP_000060.2:p.Arg174= NC_000001.11:201091992:G:T p.(Arg174=) NC_000001.11:201091992:G:T p.(Arg174=) NC_000001.11:201091992:G:T Identity +NM_001003679.3:c.2046C>T NP_001003679.1:p.Asn682= NC_000001.11:65616057:C:T p.(Asn682=) NC_000001.11:65616057:C:T p.(Asn682=) NC_000001.11:65616057:C:T Identity +NM_000310.4:c.894T>C NP_000301.1:p.Tyr298= NC_000001.11:40074087:A:G p.(Tyr298=) NC_000001.11:40074087:A:G p.(Tyr298=) NC_000001.11:40074087:A:G Identity +NM_000186.4:c.2763T>C NP_000177.2:p.Ser921= NC_000001.11:196737640:T:C p.(Ser921=) NC_000001.11:196737640:T:C p.(Ser921=) NC_000001.11:196737640:T:C Identity +NM_001146289.2:c.1944C>T NP_001139761.1:p.Ala648= NC_000001.11:42747382:G:A p.(Ala648=) NC_000001.11:42747382:G:A p.(Ala648=) NC_000001.11:42747382:G:A Identity +NM_001291860.2:c.8166C>T NP_001278789.1:p.Ser2722= NC_000001.11:21847354:G:A p.(Ser2722=) NC_000001.11:21847354:G:A p.(Ser2722=) NC_000001.11:21847354:G:A Identity +NM_001288607.2:c.162C>T NP_001275536.1:p.Ala54= NC_000001.11:150552980:C:T p.(Ala54=) NC_000001.11:150552980:C:T p.(Ala54=) NC_000001.11:150552980:C:T Identity +NM_001291860.2:c.4437C>T NP_001278789.1:p.Arg1479= NC_000001.11:21865034:G:A p.(Arg1479=) NC_000001.11:21865034:G:A p.(Arg1479=) NC_000001.11:21865034:G:A Identity +NM_001994.3:c.1257C>A NP_001985.2:p.Ser419= NC_000001.11:197055811:G:T p.(Ser419=) NC_000001.11:197055811:G:T p.(Ser419=) NC_000001.11:197055811:G:T Identity +NM_001100.4:c.480C>A NP_001091.1:p.Gly160= NC_000001.11:229432405:G:T p.(Gly160=) NC_000001.11:229432405:G:T p.(Gly160=) NC_000001.11:229432405:G:T Identity +NM_001190818.2:c.1383T>C NP_001177747.1:p.Ser461= NC_000001.11:52388441:A:G p.(Ser461=) NC_000001.11:52388441:A:G p.(Ser461=) NC_000001.11:52388441:A:G Identity +NM_001033855.3:c.27C>T NP_001029027.1:p.Ala9= NC_000010.11:14953983:G:A p.(Ala9=) NC_000010.11:14953983:G:A p.(Ala9=) NC_000010.11:14953983:G:A Identity +NM_004273.5:c.1380C>A NP_004264.2:p.Ala460= NC_000010.11:72008410:C:A p.(Ala460=) NC_000010.11:72008410:C:A p.(Ala460=) NC_000010.11:72008410:C:A Identity +NM_007055.4:c.1596G>A NP_008986.2:p.Pro532= NC_000010.11:78010516:C:T p.(Pro532=) NC_000010.11:78010516:C:T p.(Pro532=) NC_000010.11:78010516:C:T Identity +NM_001909.5:c.999C>A NP_001900.1:p.Ser333= NC_000011.10:1753874:G:T p.(Ser333=) NC_000011.10:1753874:G:T p.(Ser333=) NC_000011.10:1753874:G:T Identity +NM_000733.4:c.408G>A NP_000724.1:p.Val136= NC_000011.10:118313761:G:A p.(Val136=) NC_000011.10:118313761:G:A p.(Val136=) NC_000011.10:118313761:G:A Identity +NM_001083116.3:c.1350G>A NP_001076585.1:p.Thr450= NC_000010.11:70598370:C:T p.(Thr450=) NC_000010.11:70598370:C:T p.(Thr450=) NC_000010.11:70598370:C:T Identity +NM_000352.6:c.3076C>T NP_000343.2:p.Leu1026= NC_000011.10:17406973:G:A p.(Leu1026=) NC_000011.10:17406973:G:A p.(Leu1026=) NC_000011.10:17406973:G:A Identity +NM_001002295.2:c.489G>A NP_001002295.1:p.Pro163= NC_000010.11:8058551:G:A p.(Pro163=) NC_000010.11:8058551:G:A p.(Pro163=) NC_000010.11:8058551:G:A Identity +NM_053054.4:c.2244C>T NP_444282.3:p.Ser748= NC_000011.10:66017131:G:A p.(Ser748=) NC_000011.10:66017131:G:A p.(Ser748=) NC_000011.10:66017131:G:A Identity +NM_001256053.2:c.3213A>G NP_001242982.1:p.Lys1071= NC_000010.11:27035233:T:C p.(Lys1071=) NC_000010.11:27035233:T:C p.(Lys1071=) NC_000010.11:27035233:T:C Identity +NM_001363518.2:c.783A>G NP_001350447.1:p.Ser261= NC_000010.11:71362196:A:G p.(Ser261=) NC_000010.11:71362196:A:G p.(Ser261=) NC_000010.11:71362196:A:G Identity +NM_001002295.2:c.708C>A NP_001002295.1:p.Pro236= NC_000010.11:8058770:C:A p.(Pro236=) NC_000010.11:8058770:C:A p.(Pro236=) NC_000010.11:8058770:C:A Identity +NM_005422.4:c.5205C>T NP_005413.2:p.Ala1735= NC_000011.10:121162302:C:T p.(Ala1735=) NC_000011.10:121162302:C:T p.(Ala1735=) NC_000011.10:121162302:C:T Identity +NM_001165414.2:c.336T>C NP_001158886.1:p.Tyr112= NC_000011.10:18400840:T:C p.(Tyr112=) NC_000011.10:18400840:T:C p.(Tyr112=) NC_000011.10:18400840:T:C Identity +NM_000448.3:c.597C>T NP_000439.2:p.Asn199= NC_000011.10:36573900:C:T p.(Asn199=) NC_000011.10:36573900:C:T p.(Asn199=) NC_000011.10:36573900:C:T Identity +NM_001082537.3:c.543A>T NP_001076006.1:p.Thr181= NC_000012.12:110628836:A:T p.(Thr181=) NC_000012.12:110628836:A:T p.(Thr181=) NC_000012.12:110628836:A:T Identity +NM_001160708.2:c.597A>T NP_001154180.1:p.Thr199= NC_000012.12:106393077:A:T p.(Thr199=) NC_000012.12:106393077:A:T p.(Thr199=) NC_000012.12:106393077:A:T Identity +NM_001184985.2:c.5610G>A NP_001171914.1:p.Val1870= NC_000012.12:885633:G:A p.(Val1870=) NC_000012.12:885633:G:A p.(Val1870=) NC_000012.12:885633:G:A Identity +NM_001159576.2:c.111G>A NP_001153048.1:p.Pro37= NC_000012.12:6374849:C:T p.(Pro37=) NC_000012.12:6374849:C:T p.(Pro37=) NC_000012.12:6374849:C:T Identity +NM_001167614.2:c.2583A>G NP_001161086.1:p.Thr861= NC_000012.12:65246174:A:G p.(Thr861=) NC_000012.12:65246174:A:G p.(Thr861=) NC_000012.12:65246174:A:G Identity +NM_001377273.1:c.882G>A NP_001364202.1:p.Gly294= NC_000012.12:21913000:C:T p.(Gly294=) NC_000012.12:21913000:C:T p.(Gly294=) NC_000012.12:21913000:C:T Identity +NM_001173463.2:c.1860A>G NP_001166934.1:p.Ser620= NC_000012.12:39341526:T:C p.(Ser620=) NC_000012.12:39341526:T:C p.(Ser620=) NC_000012.12:39341526:T:C Identity +NM_000424.4:c.1344G>A NP_000415.2:p.Arg448= NC_000012.12:52516731:C:T p.(Arg448=) NC_000012.12:52516731:C:T p.(Arg448=) NC_000012.12:52516731:C:T Identity +NM_000282.4:c.762C>T NP_000273.2:p.Gly254= NC_000013.11:100262773:C:T p.(Gly254=) NC_000013.11:100262773:C:T p.(Gly254=) NC_000013.11:100262773:C:T Identity +NM_024685.4:c.1164C>T NP_078961.3:p.Ser388= NC_000012.12:76346820:G:A p.(Ser388=) NC_000012.12:76346820:G:A p.(Ser388=) NC_000012.12:76346820:G:A Identity +NM_000875.5:c.537G>A NP_000866.1:p.Gly179= NC_000015.10:98708003:G:A p.(Gly179=) NC_000015.10:98708003:G:A p.(Gly179=) NC_000015.10:98708003:G:A Identity +NM_001194998.2:c.1650A>G NP_001181927.1:p.Val550= NC_000015.10:48772618:T:C p.(Val550=) NC_000015.10:48772618:T:C p.(Val550=) NC_000015.10:48772618:T:C Identity +NM_014714.4:c.2709C>T NP_055529.2:p.Thr903= NC_000016.10:1525945:G:A p.(Thr903=) NC_000016.10:1525945:G:A p.(Thr903=) NC_000016.10:1525945:G:A Identity +NM_001363711.2:c.2427C>T NP_001350640.1:p.Ala809= NC_000015.10:45104272:G:A p.(Ala809=) NC_000015.10:45104272:G:A p.(Ala809=) NC_000015.10:45104272:G:A Identity +NM_001040428.4:c.1515T>C NP_001035518.1:p.Ser505= NC_000014.9:88438232:T:C p.(Ser505=) NC_000014.9:88438232:T:C p.(Ser505=) NC_000014.9:88438232:T:C Identity +NM_000070.3:c.1002C>T NP_000061.1:p.His334= NC_000015.10:42392694:C:T p.(His334=) NC_000015.10:42392694:C:T p.(His334=) NC_000015.10:42392694:C:T Identity +NM_002470.4:c.5253C>T NP_002461.2:p.Asn1751= NC_000017.11:10631643:G:A p.(Asn1751=) NC_000017.11:10631643:G:A p.(Asn1751=) NC_000017.11:10631643:G:A Identity +NM_001195573.1:c.5217G>C NP_001182502.1:p.Leu1739= NC_000014.9:95094034:C:G p.(Leu1739=) NC_000014.9:95094034:C:G p.(Leu1739=) NC_000014.9:95094034:C:G Identity +NM_021615.5:c.301C>T NP_067628.1:p.Leu101= NC_000016.10:75479527:G:A p.(Leu101=) NC_000016.10:75479527:G:A p.(Leu101=) NC_000016.10:75479527:G:A Identity +NM_000833.5:c.3591T>A NP_000824.1:p.Gly1197= NC_000016.10:9763952:A:T p.(Gly1197=) NC_000016.10:9763952:A:T p.(Gly1197=) NC_000016.10:9763952:A:T Identity +NM_001127889.5:c.177T>C NP_001121361.1:p.Phe59= NC_000015.10:64980911:A:G p.(Phe59=) NC_000015.10:64980911:A:G p.(Phe59=) NC_000015.10:64980911:A:G Identity +NM_012213.3:c.762C>T NP_036345.2:p.His254= NC_000016.10:83908245:C:T p.(His254=) NC_000016.10:83908245:C:T p.(His254=) NC_000016.10:83908245:C:T Identity +NM_000246.4:c.366A>T NP_000237.2:p.Ile122= NC_000016.10:10898931:A:T p.(Ile122=) NC_000016.10:10898931:A:T p.(Ile122=) NC_000016.10:10898931:A:T Identity +NM_002472.3:c.1899T>C NP_002463.2:p.Asp633= NC_000017.11:10409162:A:G p.(Asp633=) NC_000017.11:10409162:A:G p.(Asp633=) NC_000017.11:10409162:A:G Identity +NM_000229.2:c.1173G>A NP_000220.1:p.Val391= NC_000016.10:67940053:C:T p.(Val391=) NC_000016.10:67940053:C:T p.(Val391=) NC_000016.10:67940053:C:T Identity +NM_001113378.2:c.1263C>T NP_001106849.1:p.Leu421= NC_000015.10:89276860:C:T p.(Leu421=) NC_000015.10:89276860:C:T p.(Leu421=) NC_000015.10:89276860:C:T Identity +NM_139057.4:c.135C>A NP_620688.2:p.Pro45= NC_000015.10:100341353:G:T p.(Pro45=) NC_000015.10:100341353:G:T p.(Pro45=) NC_000015.10:100341353:G:T Identity +NM_000435.3:c.1194C>T NP_000426.2:p.Gly398= NC_000019.10:15189172:G:A p.(Gly398=) NC_000019.10:15189172:G:A p.(Gly398=) NC_000019.10:15189172:G:A Identity +NM_001004334.4:c.4047G>A NP_001004334.3:p.Ala1349= NC_000017.11:38329521:C:T p.(Ala1349=) NC_000017.11:38329521:C:T p.(Ala1349=) NC_000017.11:38329521:C:T Identity +NM_005148.4:c.39G>A NP_005139.1:p.Ala13= NC_000017.11:28552518:C:T p.(Ala13=) NC_000017.11:28552518:C:T p.(Ala13=) NC_000017.11:28552518:C:T Identity +NM_002470.4:c.2517C>A NP_002461.2:p.Pro839= NC_000017.11:10640160:G:T p.(Pro839=) NC_000017.11:10640160:G:T p.(Pro839=) NC_000017.11:10640160:G:T Identity +NM_001321299.2:c.1473C>T NP_001308228.1:p.Pro491= NC_000017.11:42794901:C:T p.(Pro491=) NC_000017.11:42794901:C:T p.(Pro491=) NC_000017.11:42794901:C:T Identity +NM_178170.3:c.666T>C NP_835464.1:p.Pro222= NC_000017.11:28737352:T:C p.(Pro222=) NC_000017.11:28737352:T:C p.(Pro222=) NC_000017.11:28737352:T:C Identity +NM_000342.4:c.1179C>T NP_000333.1:p.Tyr393= NC_000017.11:44258088:G:A p.(Tyr393=) NC_000017.11:44258088:G:A p.(Tyr393=) NC_000017.11:44258088:G:A Identity +NM_001042631.3:c.117T>C NP_001036096.2:p.His39= NC_000019.10:35995390:T:C p.(His39=) NC_000019.10:35995390:T:C p.(His39=) NC_000019.10:35995390:T:C Identity +NM_001242366.3:c.906A>G NP_001229295.1:p.Lys302= NC_000017.11:28404790:T:C p.(Lys302=) NC_000017.11:28404790:T:C p.(Lys302=) NC_000017.11:28404790:T:C Identity +NM_000540.3:c.9096T>A NP_000531.2:p.Ser3032= NC_000019.10:38510754:T:A p.(Ser3032=) NC_000019.10:38510754:T:A p.(Ser3032=) NC_000019.10:38510754:T:A Identity +NM_001369369.1:c.1752G>A NP_001356298.1:p.Gly584= NC_000017.11:28537240:G:A p.(Gly584=) NC_000017.11:28537240:G:A p.(Gly584=) NC_000017.11:28537240:G:A Identity +NM_000088.4:c.2796C>T NP_000079.2:p.Gly932= NC_000017.11:50189409:G:A p.(Gly932=) NC_000017.11:50189409:G:A p.(Gly932=) NC_000017.11:50189409:G:A Identity +NM_000382.3:c.1392C>T NP_000373.1:p.Leu464= NC_000017.11:19671904:C:T p.(Leu464=) NC_000017.11:19671904:C:T p.(Leu464=) NC_000017.11:19671904:C:T Identity +NM_000215.4:c.2254C>T NP_000206.2:p.Leu752= NC_000019.10:17834666:G:A p.(Leu752=) NC_000019.10:17834666:G:A p.(Leu752=) NC_000019.10:17834666:G:A Identity +NM_000226.4:c.1275C>T NP_000217.2:p.Asp425= NC_000017.11:41568280:G:A p.(Asp425=) NC_000017.11:41568280:G:A p.(Asp425=) NC_000017.11:41568280:G:A Identity +NM_005570.4:c.957G>A NP_005561.1:p.Ala319= NC_000018.10:59338951:C:T p.(Ala319=) NC_000018.10:59338951:C:T p.(Ala319=) NC_000018.10:59338951:C:T Identity +NM_004278.4:c.130C>T NP_004269.1:p.Leu44= NC_000017.11:16217355:C:T p.(Leu44=) NC_000017.11:16217355:C:T p.(Leu44=) NC_000017.11:16217355:C:T Identity +NM_003331.5:c.372T>C NP_003322.3:p.Arg124= NC_000019.10:10368147:A:G p.(Arg124=) NC_000019.10:10368147:A:G p.(Arg124=) NC_000019.10:10368147:A:G Identity +NM_000419.5:c.2862G>A NP_000410.2:p.Val954= NC_000017.11:44374739:C:T p.(Val954=) NC_000017.11:44374739:C:T p.(Val954=) NC_000017.11:44374739:C:T Identity +NM_001374385.1:c.1278C>T NP_001361314.1:p.Tyr426= NC_000018.10:57688449:G:A p.(Tyr426=) NC_000018.10:57688449:G:A p.(Tyr426=) NC_000018.10:57688449:G:A Identity +NM_004525.3:c.12909A>G NP_004516.2:p.Gly4303= NC_000002.12:169145825:T:C p.(Gly4303=) NC_000002.12:169145825:T:C p.(Gly4303=) NC_000002.12:169145825:T:C Identity +NM_004525.3:c.7491G>T NP_004516.2:p.Gly2497= NC_000002.12:169206087:C:A p.(Gly2497=) NC_000002.12:169206087:C:A p.(Gly2497=) NC_000002.12:169206087:C:A Identity +NM_001077186.2:c.204G>A NP_001070654.1:p.Ala68= NC_000019.10:50210568:G:A p.(Ala68=) NC_000019.10:50210568:G:A p.(Ala68=) NC_000019.10:50210568:G:A Identity +NM_001025201.4:c.7C>T NP_001020372.2:p.Leu3= NC_000002.12:175004905:G:A p.(Leu3=) NC_000002.12:175004905:G:A p.(Leu3=) NC_000002.12:175004905:G:A Identity +NM_022336.4:c.606C>T NP_071731.1:p.Ile202= NC_000002.12:108910995:G:A p.(Ile202=) NC_000002.12:108910995:G:A p.(Ile202=) NC_000002.12:108910995:G:A Identity +NM_000064.4:c.2646C>T NP_000055.2:p.His882= NC_000019.10:6697493:G:A p.(His882=) NC_000019.10:6697493:G:A p.(His882=) NC_000019.10:6697493:G:A Identity +NM_000547.6:c.1863G>A NP_000538.3:p.Lys621= NC_000002.12:1493895:G:A p.(Lys621=) NC_000002.12:1493895:G:A p.(Lys621=) NC_000002.12:1493895:G:A Identity +NM_017671.5:c.555A>G NP_060141.3:p.Lys185= NC_000020.11:6110488:T:C p.(Lys185=) NC_000020.11:6110488:T:C p.(Lys185=) NC_000020.11:6110488:T:C Identity +NM_001079878.2:c.1080T>C NP_001073347.1:p.Tyr360= NC_000002.12:98396303:T:C p.(Tyr360=) NC_000002.12:98396303:T:C p.(Tyr360=) NC_000002.12:98396303:T:C Identity +NM_001204.7:c.57G>A NP_001195.2:p.Leu19= NC_000002.12:202377530:G:A p.(Leu19=) NC_000002.12:202377530:G:A p.(Leu19=) NC_000002.12:202377530:G:A Identity +NM_001315529.2:c.3822G>C NP_001302458.1:p.Arg1274= NC_000021.9:46391335:G:C p.(Arg1274=) NC_000021.9:46391335:G:C p.(Arg1274=) NC_000021.9:46391335:G:C Identity +NM_001258384.3:c.900C>T NP_001245313.1:p.Tyr300= NC_000020.11:2660044:G:A p.(Tyr300=) NC_000020.11:2660044:G:A p.(Tyr300=) NC_000020.11:2660044:G:A Identity +NM_003849.4:c.87C>T NP_003840.2:p.Arg29= NC_000002.12:84459182:G:A p.(Arg29=) NC_000002.12:84459182:G:A p.(Arg29=) NC_000002.12:84459182:G:A Identity +NM_000821.7:c.1008C>T NP_000812.2:p.Ala336= NC_000002.12:85553378:G:A p.(Ala336=) NC_000002.12:85553378:G:A p.(Ala336=) NC_000002.12:85553378:G:A Identity +NM_012469.4:c.61C>T NP_036601.2:p.Leu21= NC_000020.11:63981305:C:T p.(Leu21=) NC_000020.11:63981305:C:T p.(Leu21=) NC_000020.11:63981305:C:T Identity +NM_001287249.2:c.366C>T NP_001274178.1:p.Ile122= NC_000002.12:241744791:C:T p.(Ile122=) NC_000002.12:241744791:C:T p.(Ile122=) NC_000002.12:241744791:C:T Identity +NM_005259.3:c.513G>A NP_005250.1:p.Val171= NC_000002.12:190060295:C:T p.(Val171=) NC_000002.12:190060295:C:T p.(Val171=) NC_000002.12:190060295:C:T Identity +NM_001357321.2:c.168G>A NP_001344250.1:p.Val56= NC_000002.12:43846156:G:A p.(Val56=) NC_000002.12:43846156:G:A p.(Val56=) NC_000002.12:43846156:G:A Identity +NM_000821.7:c.745C>T NP_000812.2:p.Leu249= NC_000002.12:85554286:G:A p.(Leu249=) NC_000002.12:85554286:G:A p.(Leu249=) NC_000002.12:85554286:G:A Identity +NM_016327.3:c.387G>A NP_057411.1:p.Thr129= NC_000022.11:24510770:G:A p.(Thr129=) NC_000022.11:24510770:G:A p.(Thr129=) NC_000022.11:24510770:G:A Identity +NM_000343.4:c.1716C>T NP_000334.1:p.Asp572= NC_000022.11:32104835:C:T p.(Asp572=) NC_000022.11:32104835:C:T p.(Asp572=) NC_000022.11:32104835:C:T Identity +NM_005787.6:c.66G>A NP_005778.1:p.Lys22= NC_000003.12:184248874:C:T p.(Lys22=) NC_000003.12:184248874:C:T p.(Lys22=) NC_000003.12:184248874:C:T Identity +NM_020208.4:c.147C>T NP_064593.1:p.Ile49= NC_000003.12:45782197:G:A p.(Ile49=) NC_000003.12:45782197:G:A p.(Ile49=) NC_000003.12:45782197:G:A Identity +NM_002473.6:c.3453G>A NP_002464.1:p.Thr1151= NC_000022.11:36295536:C:T p.(Thr1151=) NC_000022.11:36295536:C:T p.(Thr1151=) NC_000022.11:36295536:C:T Identity +NM_004122.2:c.354C>T NP_004113.1:p.Leu118= NC_000003.12:172448059:G:A p.(Leu118=) NC_000003.12:172448059:G:A p.(Leu118=) NC_000003.12:172448059:G:A Identity +NM_001145392.2:c.1233C>T NP_001138864.1:p.Ser411= NC_000003.12:12529857:C:T p.(Ser411=) NC_000003.12:12529857:C:T p.(Ser411=) NC_000003.12:12529857:C:T Identity +NM_003571.4:c.285C>T NP_003562.1:p.Thr95= NC_000003.12:133400367:C:T p.(Thr95=) NC_000003.12:133400367:C:T p.(Thr95=) NC_000003.12:133400367:C:T Identity +NM_198506.5:c.99T>C NP_940908.3:p.Asn33= NC_000004.12:109848299:T:C p.(Asn33=) NC_000004.12:109848299:T:C p.(Asn33=) NC_000004.12:109848299:T:C Identity +NM_006953.4:c.480G>A NP_008884.1:p.Thr160= NC_000022.11:45287442:G:A p.(Thr160=) NC_000022.11:45287442:G:A p.(Thr160=) NC_000022.11:45287442:G:A Identity +NM_174878.3:c.411G>A NP_777367.1:p.Leu137= NC_000003.12:150941603:C:T p.(Leu137=) NC_000003.12:150941603:C:T p.(Leu137=) NC_000003.12:150941603:C:T Identity +NM_005677.4:c.117C>T NP_005668.2:p.Ser39= NC_000003.12:15489626:G:A p.(Ser39=) NC_000003.12:15489626:G:A p.(Ser39=) NC_000003.12:15489626:G:A Identity +NM_001365116.2:c.1662G>A NP_001352045.1:p.Ala554= NC_000003.12:46995498:G:A p.(Ala554=) NC_000003.12:46995498:G:A p.(Ala554=) NC_000003.12:46995498:G:A Identity +NM_001887.4:c.63C>A NP_001878.1:p.Thr21= NC_000022.11:26616256:G:T p.(Thr21=) NC_000022.11:26616256:G:T p.(Thr21=) NC_000022.11:26616256:G:T Identity +NM_001378492.1:c.99T>C NP_001365421.1:p.Ala33= NC_000003.12:190388427:T:C p.(Ala33=) NC_000003.12:190388427:T:C p.(Ala33=) NC_000003.12:190388427:T:C Identity +NM_000343.4:c.36G>A NP_000334.1:p.Ala12= NC_000022.11:32043316:G:A p.(Ala12=) NC_000022.11:32043316:G:A p.(Ala12=) NC_000022.11:32043316:G:A Identity +NM_000343.4:c.1524C>T NP_000334.1:p.Thr508= NC_000022.11:32102095:C:T p.(Thr508=) NC_000022.11:32102095:C:T p.(Thr508=) NC_000022.11:32102095:C:T Identity +NM_001001485.3:c.2232C>A NP_001001485.1:p.Pro744= NC_000003.12:130996784:C:A p.(Pro744=) NC_000003.12:130996784:C:A p.(Pro744=) NC_000003.12:130996784:C:A Identity +NM_001128929.3:c.1416T>C NP_001122401.1:p.Phe472= NC_000003.12:77558079:T:C p.(Phe472=) NC_000003.12:77558079:T:C p.(Phe472=) NC_000003.12:77558079:T:C Identity +NM_001166133.2:c.885C>T NP_001159605.1:p.Asp295= NC_000004.12:78267335:C:T p.(Asp295=) NC_000004.12:78267335:C:T p.(Asp295=) NC_000004.12:78267335:C:T Identity +NM_000439.5:c.1146G>A NP_000430.3:p.Ser382= NC_000005.10:96408272:C:T p.(Ser382=) NC_000005.10:96408272:C:T p.(Ser382=) NC_000005.10:96408272:C:T Identity +NM_004562.3:c.594C>T NP_004553.2:p.Ser198= NC_000006.12:162054114:G:A p.(Ser198=) NC_000006.12:162054114:G:A p.(Ser198=) NC_000006.12:162054114:G:A Identity +NM_001198557.2:c.357T>C NP_001185486.1:p.Ala119= NC_000005.10:126818968:T:C p.(Ala119=) NC_000005.10:126818968:T:C p.(Ala119=) NC_000005.10:126818968:T:C Identity +NM_001099287.2:c.657C>T NP_001092757.2:p.Tyr219= NC_000005.10:157472401:C:T p.(Tyr219=) NC_000005.10:157472401:C:T p.(Tyr219=) NC_000005.10:157472401:C:T Identity +NM_032119.4:c.7866C>T NP_115495.3:p.Val2622= NC_000005.10:90694621:C:T p.(Val2622=) NC_000005.10:90694621:C:T p.(Val2622=) NC_000005.10:90694621:C:T Identity +NM_004159.5:c.168C>T NP_004150.1:p.Asp56= NC_000006.12:32843056:G:A p.(Asp56=) NC_000006.12:32843056:G:A p.(Asp56=) NC_000006.12:32843056:G:A Identity +NM_001193341.2:c.603C>A NP_001180270.1:p.Ser201= NC_000006.12:43656700:C:A p.(Ser201=) NC_000006.12:43656700:C:A p.(Ser201=) NC_000006.12:43656700:C:A Identity +NM_002546.4:c.621C>T NP_002537.3:p.Phe207= NC_000008.11:118926689:G:A p.(Phe207=) NC_000008.11:118926689:G:A p.(Phe207=) NC_000008.11:118926689:G:A Identity +NM_003816.3:c.1362G>A NP_003807.1:p.Glu454= NC_000008.11:39054539:G:A p.(Glu454=) NC_000008.11:39054539:G:A p.(Glu454=) NC_000008.11:39054539:G:A Identity +NM_000237.3:c.81C>A NP_000228.1:p.Ala27= NC_000008.11:19939520:C:A p.(Ala27=) NC_000008.11:19939520:C:A p.(Ala27=) NC_000008.11:19939520:C:A Identity +NM_001540.5:c.60C>T NP_001531.1:p.Arg20= NC_000007.14:76302771:C:T p.(Arg20=) NC_000007.14:76302771:C:T p.(Arg20=) NC_000007.14:76302771:C:T Identity +NM_001280557.2:c.63C>T NP_001267486.1:p.Phe21= NC_000008.11:144413306:G:A p.(Phe21=) NC_000008.11:144413306:G:A p.(Phe21=) NC_000008.11:144413306:G:A Identity +NM_000823.4:c.174C>A NP_000814.2:p.Thr58= NC_000007.14:30969075:C:A p.(Thr58=) NC_000007.14:30969075:C:A p.(Thr58=) NC_000007.14:30969075:C:A Identity +NM_001142800.2:c.522C>T NP_001136272.1:p.Cys174= NC_000006.12:65494888:G:A p.(Cys174=) NC_000006.12:65494888:G:A p.(Cys174=) NC_000006.12:65494888:G:A Identity +NM_178857.6:c.6429T>A NP_849188.4:p.Pro2143= NC_000008.11:10607668:A:T p.(Pro2143=) NC_000008.11:10607668:A:T p.(Pro2143=) NC_000008.11:10607668:A:T Identity +NM_000168.6:c.783C>T NP_000159.3:p.Ala261= NC_000007.14:42045426:G:A p.(Ala261=) NC_000007.14:42045426:G:A p.(Ala261=) NC_000007.14:42045426:G:A Identity +NM_005522.5:c.813C>T NP_005513.2:p.Thr271= NC_000007.14:27094634:G:A p.(Thr271=) NC_000007.14:27094634:G:A p.(Thr271=) NC_000007.14:27094634:G:A Identity +NM_001206855.3:c.816C>T NP_001193784.1:p.Ser272= NC_000007.14:100629313:G:A p.(Ser272=) NC_000007.14:100629313:G:A p.(Ser272=) NC_000007.14:100629313:G:A Identity +NM_000168.6:c.2004G>A NP_000159.3:p.Pro668= NC_000007.14:41972435:C:T p.(Pro668=) NC_000007.14:41972435:C:T p.(Pro668=) NC_000007.14:41972435:C:T Identity +NM_153704.6:c.282T>C NP_714915.3:p.Ala94= NC_000008.11:93755835:T:C p.(Ala94=) NC_000008.11:93755835:T:C p.(Ala94=) NC_000008.11:93755835:T:C Identity +NM_000497.4:c.1465T>C NP_000488.3:p.Leu489= NC_000008.11:142874419:A:G p.(Leu489=) NC_000008.11:142874419:A:G p.(Leu489=) NC_000008.11:142874419:A:G Identity +NM_020745.4:c.1041G>A NP_065796.2:p.Pro347= NC_000006.12:44307030:C:T p.(Pro347=) NC_000006.12:44307030:C:T p.(Pro347=) NC_000006.12:44307030:C:T Identity +NM_001324112.2:c.75C>A NP_001311041.1:p.Ala25= NC_000008.11:64798512:G:T p.(Ala25=) NC_000008.11:64798512:G:T p.(Ala25=) NC_000008.11:64798512:G:T Identity +NM_017813.5:c.21C>T NP_060283.3:p.Arg7= NC_000008.11:56993564:G:A p.(Arg7=) NC_000008.11:56993564:G:A p.(Arg7=) NC_000008.11:56993564:G:A Identity +NM_001318876.2:c.585T>C NP_001305805.1:p.Asp195= NC_000006.12:43520356:T:C p.(Asp195=) NC_000006.12:43520356:T:C p.(Asp195=) NC_000006.12:43520356:T:C Identity +NM_001367562.3:c.1926C>T NP_001354491.2:p.Thr642= NC_000007.14:75986372:C:T p.(Thr642=) NC_000007.14:75986372:C:T p.(Thr642=) NC_000007.14:75986372:C:T Identity +NM_001142800.2:c.6510C>T NP_001136272.1:p.Asn2170= NC_000006.12:64081916:G:A p.(Asn2170=) NC_000006.12:64081916:G:A p.(Asn2170=) NC_000006.12:64081916:G:A Identity +NM_005144.5:c.84C>T NP_005135.2:p.Pro28= NC_000008.11:22129086:G:A p.(Pro28=) NC_000008.11:22129086:G:A p.(Pro28=) NC_000008.11:22129086:G:A Identity +NM_001302884.2:c.1728C>T NP_001289813.1:p.Asp576= NC_000009.12:97473496:C:T p.(Asp576=) NC_000009.12:97473496:C:T p.(Asp576=) NC_000009.12:97473496:C:T Identity +NM_001289396.2:c.699G>A NP_001276325.1:p.Gln233= NC_000009.12:2039808:G:A p.(Gln233=) NC_000009.12:2039808:G:A p.(Gln233=) NC_000009.12:2039808:G:A Identity +NM_004560.4:c.2034C>T NP_004551.2:p.Tyr678= NC_000009.12:91724459:G:A p.(Tyr678=) NC_000009.12:91724459:G:A p.(Tyr678=) NC_000009.12:91724459:G:A Identity +NM_001289396.2:c.990C>T NP_001276325.1:p.Pro330= NC_000009.12:2047427:C:T p.(Pro330=) NC_000009.12:2047427:C:T p.(Pro330=) NC_000009.12:2047427:C:T Identity +NM_000787.4:c.1128C>A NP_000778.3:p.Ala376= NC_000009.12:133647948:C:A p.(Ala376=) NC_000009.12:133647948:C:A p.(Ala376=) NC_000009.12:133647948:C:A Identity +NM_001018056.3:c.921C>T NP_001018066.1:p.Ser307= NC_000009.12:2643727:C:T p.(Ser307=) NC_000009.12:2643727:C:T p.(Ser307=) NC_000009.12:2643727:C:T Identity +NM_021154.5:c.270C>T NP_066977.1:p.Leu90= NC_000009.12:78304812:C:T p.(Leu90=) NC_000009.12:78304812:C:T p.(Leu90=) NC_000009.12:78304812:C:T Identity +NM_001122670.2:c.3531C>T NP_001116142.1:p.Asp1177= NC_000023.11:72581103:G:A p.(Asp1177=) NC_000023.11:72581103:G:A p.(Asp1177=) NC_000023.11:72581103:G:A Identity +NM_001145320.2:c.804C>T NP_001138792.1:p.Asn268= NC_000009.12:133547077:C:T p.(Asn268=) NC_000009.12:133547077:C:T p.(Asn268=) NC_000009.12:133547077:C:T Identity +NM_001145320.2:c.2532C>T NP_001138792.1:p.Pro844= NC_000009.12:133570446:C:T p.(Pro844=) NC_000009.12:133570446:C:T p.(Pro844=) NC_000009.12:133570446:C:T Identity +NM_133497.4:c.1026C>T NP_598004.1:p.Ala342= NC_000009.12:2718764:C:T p.(Ala342=) NC_000009.12:2718764:C:T p.(Ala342=) NC_000009.12:2718764:C:T Identity +NM_001363746.1:c.564C>T NP_001350675.1:p.Arg188= NC_000009.12:136198916:G:A p.(Arg188=) NC_000009.12:136198916:G:A p.(Arg188=) NC_000009.12:136198916:G:A Identity +NM_001145320.2:c.1815C>T NP_001138792.1:p.Asp605= NC_000009.12:133567002:C:T p.(Asp605=) NC_000009.12:133567002:C:T p.(Asp605=) NC_000009.12:133567002:C:T Identity +NM_001177310.2:c.402G>T NP_001170781.1:p.Val134= NC_000009.12:74840150:C:A p.(Val134=) NC_000009.12:74840150:C:A p.(Val134=) NC_000009.12:74840150:C:A Identity +NM_001127610.2:c.558C>T NP_001121082.1:p.Phe186= NC_000009.12:101368230:G:A p.(Phe186=) NC_000009.12:101368230:G:A p.(Phe186=) NC_000009.12:101368230:G:A Identity +NM_012203.2:c.543G>C NP_036335.1:p.Leu181= NC_000009.12:37429780:G:C p.(Leu181=) NC_000009.12:37429780:G:C p.(Leu181=) NC_000009.12:37429780:G:C Identity +NM_000053.4:c.3693delinsTCTGGTACATTAACATTA NP_000044.2:p.Ala1231_Thr1232insLeuValHisTer NC_000013.11:51939056:G:TAATGTTAATGTACCAGA p.(Thr1232LeufsTer4) NC_000013.11:51939056:GG:GTAATGTTAATGTACCAGA p.(Thr1232LeufsTer4) NC_000013.11:51939056:G:TAATGTTAATGTACCAGA Analogous +NM_001141945.3:c.964C>T NP_001135417.1:p.Leu322= NC_000010.11:88938086:G:A p.(Leu322=) NC_000010.11:88938086:G:A p.(Leu322=) NC_000010.11:88938086:G:A Identity +NM_001040113.2:c.3441G>A NP_001035202.1:p.Gln1147= NC_000016.10:15735451:C:T p.(Gln1147=) NC_000016.10:15735451:C:T p.(Gln1147=) NC_000016.10:15735451:C:T Identity +NM_001024847.3:c.1285C>T NP_001020018.1:p.Leu429= NC_000003.12:30672392:C:T p.(Leu429=) NC_000003.12:30672392:C:T p.(Leu429=) NC_000003.12:30672392:C:T Identity +NM_000051.4:c.1785G>T NP_000042.3:p.Val595= NC_000011.10:108252013:G:T p.(Val595=) NC_000011.10:108252013:G:T p.(Val595=) NC_000011.10:108252013:G:T Identity +NM_004656.4:c.1197T>C NP_004647.1:p.Asp399= NC_000003.12:52404505:A:G p.(Asp399=) NC_000003.12:52404505:A:G p.(Asp399=) NC_000003.12:52404505:A:G Identity +NM_000527.5:c.2205C>T NP_000518.1:p.Ala735= NC_000019.10:11123237:C:T p.(Ala735=) NC_000019.10:11123237:C:T p.(Ala735=) NC_000019.10:11123237:C:T Identity +NM_001317184.2:c.1818C>T NP_001304113.1:p.Leu606= NC_000016.10:68823462:C:T p.(Leu606=) NC_000016.10:68823462:C:T p.(Leu606=) NC_000016.10:68823462:C:T Identity +NM_000059.4:c.1425A>G NP_000050.3:p.Glu475= NC_000013.11:32332902:A:G p.(Glu475=) NC_000013.11:32332902:A:G p.(Glu475=) NC_000013.11:32332902:A:G Identity +NM_001407240.1:c.1527A>G NP_001394169.1:p.Thr509= NC_000001.11:55058547:A:G p.(Thr509=) NC_000001.11:55058547:A:G p.(Thr509=) NC_000001.11:55058547:A:G Identity +NM_001145102.2:c.429C>T NP_001138574.1:p.Phe143= NC_000015.10:67181325:C:T p.(Phe143=) NC_000015.10:67181325:C:T p.(Phe143=) NC_000015.10:67181325:C:T Identity +NM_000335.5:c.4338C>T NP_000326.2:p.Tyr1446= NC_000003.12:38556536:G:A p.(Tyr1446=) NC_000003.12:38556536:G:A p.(Tyr1446=) NC_000003.12:38556536:G:A Identity +NM_000038.6:c.3666A>G NP_000029.2:p.Ser1222= NC_000005.10:112839259:A:G p.(Ser1222=) NC_000005.10:112839259:A:G p.(Ser1222=) NC_000005.10:112839259:A:G Identity +NM_032043.3:c.3252T>G NP_114432.2:p.Thr1084= NC_000017.11:61683793:A:C p.(Thr1084=) NC_000017.11:61683793:A:C p.(Thr1084=) NC_000017.11:61683793:A:C Identity +NM_000038.6:c.480T>A NP_000029.2:p.Ala160= NC_000005.10:112775685:T:A p.(Ala160=) NC_000005.10:112775685:T:A p.(Ala160=) NC_000005.10:112775685:T:A Identity +NM_001407240.1:c.1068C>T NP_001394169.1:p.Ala356= NC_000001.11:55056137:C:T p.(Ala356=) NC_000001.11:55056137:C:T p.(Ala356=) NC_000001.11:55056137:C:T Identity +NM_004329.3:c.795C>T NP_004320.2:p.Thr265= NC_000010.11:86917252:C:T p.(Thr265=) NC_000010.11:86917252:C:T p.(Thr265=) NC_000010.11:86917252:C:T Identity +NM_001040113.2:c.3036G>A NP_001035202.1:p.Glu1012= NC_000016.10:15738670:C:T p.(Glu1012=) NC_000016.10:15738670:C:T p.(Glu1012=) NC_000016.10:15738670:C:T Identity +NM_000051.4:c.4537C>T NP_000042.3:p.Leu1513= NC_000011.10:108292718:C:T p.(Leu1513=) NC_000011.10:108292718:C:T p.(Leu1513=) NC_000011.10:108292718:C:T Identity +NM_000314.8:c.102T>C NP_000305.3:p.Ala34= NC_000010.11:87894046:T:C p.(Ala34=) NC_000010.11:87894046:T:C p.(Ala34=) NC_000010.11:87894046:T:C Identity +NM_000465.4:c.2031C>T NP_000456.2:p.Phe677= NC_000002.12:214728978:G:A p.(Phe677=) NC_000002.12:214728978:G:A p.(Phe677=) NC_000002.12:214728978:G:A Identity +NM_032043.3:c.1266A>G NP_114432.2:p.Leu422= NC_000017.11:61799173:T:C p.(Leu422=) NC_000017.11:61799173:T:C p.(Leu422=) NC_000017.11:61799173:T:C Identity +NM_000527.5:c.1848C>T NP_000518.1:p.Asp616= NC_000019.10:11120093:C:T p.(Asp616=) NC_000019.10:11120093:C:T p.(Asp616=) NC_000019.10:11120093:C:T Identity +NM_001126113.3:c.1011A>G NP_001119585.1:p.Arg337= NC_000017.11:7673248:T:C p.(Arg337=) NC_000017.11:7673248:T:C p.(Arg337=) NC_000017.11:7673248:T:C Identity +NM_000051.4:c.4723_4725delinsAGA NP_000042.3:p.Arg1575= NC_000011.10:108293423:CGT:AGA p.(Arg1575=) NC_000011.10:108293423:CGT:AGA p.(Arg1575=) NC_000011.10:108293423:CGT:AGA Identity +NM_001040113.2:c.1098C>T NP_001035202.1:p.Ile366= NC_000016.10:15763847:G:A p.(Ile366=) NC_000016.10:15763847:G:A p.(Ile366=) NC_000016.10:15763847:G:A Identity +NM_000238.4:c.3252G>A NP_000229.1:p.Pro1084= NC_000007.14:150946954:C:T p.(Pro1084=) NC_000007.14:150946954:C:T p.(Pro1084=) NC_000007.14:150946954:C:T Identity +NM_001145102.2:c.447C>A NP_001138574.1:p.Ser149= NC_000015.10:67181343:C:A p.(Ser149=) NC_000015.10:67181343:C:A p.(Ser149=) NC_000015.10:67181343:C:A Identity +NM_001317184.2:c.801T>C NP_001304113.1:p.Phe267= NC_000016.10:68810309:T:C p.(Phe267=) NC_000016.10:68810309:T:C p.(Phe267=) NC_000016.10:68810309:T:C Identity +NM_000535.7:c.1491C>G NP_000526.2:p.Gly497= NC_000007.14:5987273:G:C p.(Gly497=) NC_000007.14:5987273:G:C p.(Gly497=) NC_000007.14:5987273:G:C Identity +NM_001040113.2:c.3927G>A NP_001035202.1:p.Lys1309= NC_000016.10:15724944:C:T p.(Lys1309=) NC_000016.10:15724944:C:T p.(Lys1309=) NC_000016.10:15724944:C:T Identity +NM_000090.4:c.531C>T NP_000081.2:p.Gly177= NC_000002.12:188988082:C:T p.(Gly177=) NC_000002.12:188988082:C:T p.(Gly177=) NC_000002.12:188988082:C:T Identity +NM_000090.4:c.39C>T NP_000081.2:p.Leu13= NC_000002.12:188974527:C:T p.(Leu13=) NC_000002.12:188974527:C:T p.(Leu13=) NC_000002.12:188974527:C:T Identity +NM_001024847.3:c.1338T>G NP_001020018.1:p.Thr446= NC_000003.12:30674112:T:G p.(Thr446=) NC_000003.12:30674112:T:G p.(Thr446=) NC_000003.12:30674112:T:G Identity +NM_004304.5:c.3091C>T NP_004295.2:p.Leu1031= NC_000002.12:29225541:G:A p.(Leu1031=) NC_000002.12:29225541:G:A p.(Leu1031=) NC_000002.12:29225541:G:A Identity +NM_000157.4:c.1092G>A NP_000148.2:p.Gly364= NC_000001.11:155236376:C:T p.(Gly364=) NC_000001.11:155236376:C:T p.(Gly364=) NC_000001.11:155236376:C:T Identity +NM_001378761.1:c.5220G>A NP_001365690.1:p.Leu1740= NC_000011.10:121153037:G:A p.(Leu1740=) NC_000011.10:121153037:G:A p.(Leu1740=) NC_000011.10:121153037:G:A Identity +NM_000720.4:c.3258T>C NP_000711.1:p.Asp1086= NC_000003.12:53747331:T:C p.(Asp1086=) NC_000003.12:53747331:T:C p.(Asp1086=) NC_000003.12:53747331:T:C Identity +NM_001256182.2:c.324C>G NP_001243111.1:p.Gly108= NC_000016.10:89291085:G:C p.(Gly108=) NC_000016.10:89291085:G:C p.(Gly108=) NC_000016.10:89291085:G:C Identity +NM_001346897.2:c.2037C>T NP_001333826.1:p.Gly679= NC_000007.14:55174030:C:T p.(Gly679=) NC_000007.14:55174030:C:T p.(Gly679=) NC_000007.14:55174030:C:T Identity +NM_001136029.4:c.3705T>A NP_001129501.1:p.Ser1235= NC_000022.11:31876191:T:A p.(Ser1235=) NC_000022.11:31876191:T:A p.(Ser1235=) NC_000022.11:31876191:T:A Identity +NM_000553.6:c.1455C>T NP_000544.2:p.Gly485= NC_000008.11:31087798:C:T p.(Gly485=) NC_000008.11:31087798:C:T p.(Gly485=) NC_000008.11:31087798:C:T Identity +NM_006231.4:c.4953G>A NP_006222.2:p.Arg1651= NC_000012.12:132642396:C:T p.(Arg1651=) NC_000012.12:132642396:C:T p.(Arg1651=) NC_000012.12:132642396:C:T Identity +NM_020975.6:c.3315G>A NP_066124.1:p.Ala1105= NC_000010.11:43128238:G:A p.(Ala1105=) NC_000010.11:43128238:G:A p.(Ala1105=) NC_000010.11:43128238:G:A Identity +NM_001160227.2:c.3410dup NP_001153699.1:p.Pro1137_Ser1138insTer NC_000015.10:44608486:GG:GGG p.(Ser1138Ter) NC_000015.10:44608486:GG:GGG p.(Ser1138Ter) ERR:SPDI Analogous +NM_144599.5:c.21_26del NP_653200.2:p.Ala15_Ala16del NC_000015.10:22786671:GCGGCAGCGGC:GCGGC p.(Ala15_Ala16del) NC_000015.10:22786671:GCGGCAGCGGC:GCGGC p.(Ala15_Ala16del) NC_000015.10:22786676:AGCGGC: Identity +NM_001257281.2:c.324G>T NP_001244210.1:p.Gly108= NC_000002.12:232030037:G:T p.(Gly108=) NC_000002.12:232030037:G:T p.(Gly108=) NC_000002.12:232030037:G:T Identity +NM_001113178.3:c.3087A>G NP_001106649.1:p.Gln1029= NC_000016.10:69692914:A:G p.(Gln1029=) NC_000016.10:69692914:A:G p.(Gln1029=) NC_000016.10:69692914:A:G Identity +NM_001256442.2:c.776dup NP_001243371.1:p.Gly259_Glu260insTer NC_000016.10:29813824:GGGGGG:GGGGGGG p.(Glu260Ter) NC_000016.10:29813824:GGGGGG:GGGGGGG p.(Glu260Ter) ERR:SPDI Analogous +NM_001482.3:c.30G>T NP_001473.1:p.Gly10= NC_000015.10:45378423:C:A p.(Gly10=) NC_000015.10:45378423:C:A p.(Gly10=) NC_000015.10:45378423:C:A Identity +NM_006231.4:c.4278A>G NP_006222.2:p.Val1426= NC_000012.12:132643848:T:C p.(Val1426=) NC_000012.12:132643848:T:C p.(Val1426=) NC_000012.12:132643848:T:C Identity +NM_001005407.2:c.2817C>T NP_001005407.1:p.Cys939= NC_000016.10:1207027:C:T p.(Cys939=) NC_000016.10:1207027:C:T p.(Cys939=) NC_000016.10:1207027:C:T Identity +NM_001135040.3:c.177C>T NP_001128512.1:p.Gly59= NC_000002.12:74378101:G:A p.(Gly59=) NC_000002.12:74378101:G:A p.(Gly59=) NC_000002.12:74378101:G:A Identity +NM_000059.4:c.6126A>G NP_000050.3:p.Gln2042= NC_000013.11:32340480:A:G p.(Gln2042=) NC_000013.11:32340480:A:G p.(Gln2042=) NC_000013.11:32340480:A:G Identity +NM_001142800.2:c.5775A>G NP_001136272.1:p.Gln1925= NC_000006.12:64439221:T:C p.(Gln1925=) NC_000006.12:64439221:T:C p.(Gln1925=) NC_000006.12:64439221:T:C Identity +NM_001365536.1:c.447G>A NP_001352465.1:p.Pro149= NC_000002.12:166306529:C:T p.(Pro149=) NC_000002.12:166306529:C:T p.(Pro149=) NC_000002.12:166306529:C:T Identity +NM_004260.4:c.539delinsCTCCCTAGCCCAGC NP_004251.4:p.Ser180delinsThrProTer NC_000008.11:144516579:C:GCTGGGCTAGGGAG p.(Ser180ThrfsTer3) NC_000008.11:144516579:C:GCTGGGCTAGGGAG p.(Ser180ThrfsTer3) NC_000008.11:144516579:C:GCTGGGCTAGGGAG Analogous +NM_001122606.1:c.763_768delinsTGAAGT NP_001116078.1:p.Asn255_Pro256delinsTer NC_000023.11:120446400:GGGGTT:ACTTCA p.(Asn255Ter) NC_000023.11:120446400:GGGGTT:ACTTCA p.(Asn255Ter) NC_000023.11:120446400:GGGGTT:ACTTCA Analogous +NM_001164507.2:c.3264_3265del NP_001157979.2:p.Tyr1088_Lys1089delinsTer NC_000002.12:151678177:TGT:T p.(Tyr1088Ter) NC_000002.12:151678177:TGT:T p.(Tyr1088Ter) NC_000002.12:151678177:TG: Analogous +NM_000334.4:c.4602G>A NP_000325.4:p.Thr1534= NC_000017.11:63941679:C:T p.(Thr1534=) NC_000017.11:63941679:C:T p.(Thr1534=) NC_000017.11:63941679:C:T Identity +NM_001407672.1:c.2769C>A NP_001394601.1:p.Leu923= NC_000017.11:43092635:G:T p.(Leu923=) NC_000017.11:43092635:G:T p.(Leu923=) NC_000017.11:43092635:G:T Identity +NM_000512.5:c.1429_1455del NP_000503.1:p.Glu477_Gln485del NC_000016.10:88818033:CTGGGGCTGCGCGGGGACCAAGGCCTCCTGG:CTGG p.(Glu477_Gln485del) NC_000016.10:88818033:CTGGGGCTGCGCGGGGACCAAGGCCTCCTGG:CTGG p.(Glu477_Gln485del) NC_000016.10:88818033:CTGGGGCTGCGCGGGGACCAAGGCCTC: Identity +NM_000539.3:c.766_777del NP_000530.1:p.Ile256_Ile259del NC_000003.12:129532591:CATGGTCATCATCATGGTCATC:CATGGTCATC p.(Ile256_Ile259del) NC_000003.12:129532591:CATGGTCATCATCATGGTCATC:CATGGTCATC p.(Ile256_Ile259del) NC_000003.12:129532601:ATCATGGTCATC: Identity +NM_000152.5:c.2040G>A NP_000143.2:p.Leu680= NC_000017.11:80113026:G:A p.(Leu680=) NC_000017.11:80113026:G:A p.(Leu680=) NC_000017.11:80113026:G:A Identity +NM_000092.5:c.4095A>G NP_000083.3:p.Glu1365= NC_000002.12:227022168:T:C p.(Glu1365=) NC_000002.12:227022168:T:C p.(Glu1365=) NC_000002.12:227022168:T:C Identity +NM_006493.4:c.963C>T NP_006484.2:p.Phe321= NC_000013.11:77000854:C:T p.(Phe321=) NC_000013.11:77000854:C:T p.(Phe321=) NC_000013.11:77000854:C:T Identity +NM_000360.4:c.769T>C NP_000351.2:p.Leu257= NC_000011.10:2166958:A:G p.(Leu257=) NC_000011.10:2166958:A:G p.(Leu257=) NC_000011.10:2166958:A:G Identity +NM_000528.4:c.2622T>C NP_000519.2:p.Gly874= NC_000019.10:12648216:A:G p.(Gly874=) NC_000019.10:12648216:A:G p.(Gly874=) NC_000019.10:12648216:A:G Identity +NM_001171933.1:c.861G>A NP_001165404.1:p.Ser287= NC_000010.11:71802995:G:A p.(Ser287=) NC_000010.11:71802995:G:A p.(Ser287=) NC_000010.11:71802995:G:A Identity +NM_000243.3:c.30G>A NP_000234.1:p.Leu10= NC_000016.10:3256557:C:T p.(Leu10=) NC_000016.10:3256557:C:T p.(Leu10=) NC_000016.10:3256557:C:T Identity +NM_001127214.4:c.135G>A NP_001120686.1:p.Pro45= NC_000016.10:89100815:G:A p.(Pro45=) NC_000016.10:89100815:G:A p.(Pro45=) NC_000016.10:89100815:G:A Identity +NM_004646.4:c.1893C>T NP_004637.1:p.Arg631= NC_000019.10:35845404:G:A p.(Arg631=) NC_000019.10:35845404:G:A p.(Arg631=) NC_000019.10:35845404:G:A Identity +NM_004268.5:c.891G>A NP_004259.3:p.Ala297= NC_000011.10:93794938:G:A p.(Ala297=) NC_000011.10:93794938:G:A p.(Ala297=) NC_000011.10:93794938:G:A Identity +NM_001171930.2:c.255C>T NP_001165401.1:p.Gly85= NC_000010.11:71510190:C:T p.(Gly85=) NC_000010.11:71510190:C:T p.(Gly85=) NC_000010.11:71510190:C:T Identity +NM_001281737.2:c.1527C>T NP_001268666.1:p.Pro509= NC_000004.12:158706827:C:T p.(Pro509=) NC_000004.12:158706827:C:T p.(Pro509=) NC_000004.12:158706827:C:T Identity +NM_001142800.2:c.6732A>G NP_001136272.1:p.Thr2244= NC_000006.12:63999176:T:C p.(Thr2244=) NC_000006.12:63999176:T:C p.(Thr2244=) NC_000006.12:63999176:T:C Identity +NM_001142800.2:c.151T>C NP_001136272.1:p.Leu51= NC_000006.12:65495259:A:G p.(Leu51=) NC_000006.12:65495259:A:G p.(Leu51=) NC_000006.12:65495259:A:G Identity +NM_001351059.2:c.1287C>T NP_001337988.1:p.Cys429= NC_000011.10:68050198:C:T p.(Cys429=) NC_000011.10:68050198:C:T p.(Cys429=) NC_000011.10:68050198:C:T Identity +NM_001271208.2:c.21051T>C NP_001258137.2:p.Pro7017= NC_000002.12:151537922:A:G p.(Pro7017=) NC_000002.12:151537922:A:G p.(Pro7017=) NC_000002.12:151537922:A:G Identity +NM_001127207.2:c.780A>G NP_001120679.1:p.Ala260= NC_000002.12:216415483:A:G p.(Ala260=) NC_000002.12:216415483:A:G p.(Ala260=) NC_000002.12:216415483:A:G Identity +NM_000277.3:c.870T>C NP_000268.1:p.His290= NC_000012.12:102851728:A:G p.(His290=) NC_000012.12:102851728:A:G p.(His290=) NC_000012.12:102851728:A:G Identity +NM_014249.4:c.546C>G NP_055064.1:p.Thr182= NC_000015.10:71812150:C:G p.(Thr182=) NC_000015.10:71812150:C:G p.(Thr182=) NC_000015.10:71812150:C:G Identity +NM_001407939.1:c.978T>C NP_001394868.1:p.Thr326= NC_000017.11:43094429:A:G p.(Thr326=) NC_000017.11:43094429:A:G p.(Thr326=) NC_000017.11:43094429:A:G Identity +NM_000296.4:c.2967G>A NP_000287.4:p.Ala989= NC_000016.10:2113178:C:T p.(Ala989=) NC_000016.10:2113178:C:T p.(Ala989=) NC_000016.10:2113178:C:T Identity +NM_001142864.4:c.1365G>A NP_001136336.2:p.Thr455= NC_000016.10:88736339:C:T p.(Thr455=) NC_000016.10:88736339:C:T p.(Thr455=) NC_000016.10:88736339:C:T Identity +NM_000089.4:c.1329G>A NP_000080.2:p.Glu443= NC_000007.14:94411132:G:A p.(Glu443=) NC_000007.14:94411132:G:A p.(Glu443=) NC_000007.14:94411132:G:A Identity +NM_006946.4:c.6591C>T NP_008877.2:p.Ser2197= NC_000011.10:66687557:G:A p.(Ser2197=) NC_000011.10:66687557:G:A p.(Ser2197=) NC_000011.10:66687557:G:A Identity +NM_001256182.2:c.6159G>C NP_001243111.1:p.Ala2053= NC_000016.10:89280382:C:G p.(Ala2053=) NC_000016.10:89280382:C:G p.(Ala2053=) NC_000016.10:89280382:C:G Identity +NM_001256850.1:c.43761C>T NP_001243779.1:p.Arg14587= NC_000002.12:178614922:G:A p.(Arg14587=) NC_000002.12:178614922:G:A p.(Arg14587=) NC_000002.12:178614922:G:A Identity +NM_000296.4:c.11586G>A NP_000287.4:p.Leu3862= NC_000016.10:2091545:C:T p.(Leu3862=) NC_000016.10:2091545:C:T p.(Leu3862=) NC_000016.10:2091545:C:T Identity +NM_000296.4:c.12438G>A NP_000287.4:p.Lys4146= NC_000016.10:2090287:C:T p.(Lys4146=) NC_000016.10:2090287:C:T p.(Lys4146=) NC_000016.10:2090287:C:T Identity +NM_001364858.1:c.1083T>C NP_001351787.1:p.Leu361= NC_000007.14:4788249:T:C p.(Leu361=) NC_000007.14:4788249:T:C p.(Leu361=) NC_000007.14:4788249:T:C Identity +NM_001961.4:c.324T>C NP_001952.1:p.His108= NC_000019.10:3983185:A:G p.(His108=) NC_000019.10:3983185:A:G p.(His108=) NC_000019.10:3983185:A:G Identity +NM_001961.4:c.591C>T NP_001952.1:p.Ser197= NC_000019.10:3982827:G:A p.(Ser197=) NC_000019.10:3982827:G:A p.(Ser197=) NC_000019.10:3982827:G:A Identity +NM_001278064.2:c.1488C>T NP_001264993.1:p.His496= NC_000006.12:146357579:C:T p.(His496=) NC_000006.12:146357579:C:T p.(His496=) NC_000006.12:146357579:C:T Identity +NM_001278064.2:c.3000C>T NP_001264993.1:p.Thr1000= NC_000006.12:146434210:C:T p.(Thr1000=) NC_000006.12:146434210:C:T p.(Thr1000=) NC_000006.12:146434210:C:T Identity +NM_001145026.2:c.5076T>A NP_001138498.1:p.Ile1692= NC_000012.12:80613748:T:A p.(Ile1692=) NC_000012.12:80613748:T:A p.(Ile1692=) NC_000012.12:80613748:T:A Identity +NM_173500.4:c.3216G>A NP_775771.3:p.Gln1072= NC_000015.10:42752029:C:T p.(Gln1072=) NC_000015.10:42752029:C:T p.(Gln1072=) NC_000015.10:42752029:C:T Identity +NM_001012428.2:c.243C>G NP_001012428.1:p.Leu81= NC_000023.11:15297636:G:C p.(Leu81=) NC_000023.11:15297636:G:C p.(Leu81=) NC_000023.11:15297636:G:C Identity +NM_000296.4:c.6588G>A NP_000287.4:p.Gln2196= NC_000016.10:2108578:C:T p.(Gln2196=) NC_000016.10:2108578:C:T p.(Gln2196=) NC_000016.10:2108578:C:T Identity +NM_000296.4:c.8688C>T NP_000287.4:p.Ser2896= NC_000016.10:2103368:G:A p.(Ser2896=) NC_000016.10:2103368:G:A p.(Ser2896=) NC_000016.10:2103368:G:A Identity +NM_020999.4:c.540C>T NP_066279.2:p.Gly180= NC_000010.11:69572503:G:A p.(Gly180=) NC_000010.11:69572503:G:A p.(Gly180=) NC_000010.11:69572503:G:A Identity +NM_001163940.2:c.891G>A NP_001157412.1:p.Pro297= NC_000014.9:50916967:C:T p.(Pro297=) NC_000014.9:50916967:C:T p.(Pro297=) NC_000014.9:50916967:C:T Identity +NM_001135745.2:c.474C>T NP_001129217.1:p.Gly158= NC_000002.12:201761519:G:A p.(Gly158=) NC_000002.12:201761519:G:A p.(Gly158=) NC_000002.12:201761519:G:A Identity +NM_005045.4:c.5157G>A NP_005036.2:p.Ser1719= NC_000007.14:103565330:C:T p.(Ser1719=) NC_000007.14:103565330:C:T p.(Ser1719=) NC_000007.14:103565330:C:T Identity +NM_032043.3:c.2764_2784del NP_114432.2:p.Leu923_Leu929del NC_000017.11:61685956:ATGACTTGCTGCTTCCAGTAAAT:AT p.(Leu923_Leu929del) NC_000017.11:61685956:ATGACTTGCTGCTTCCAGTAAAT:AT p.(Leu923_Leu929del) NC_000017.11:61685956:ATGACTTGCTGCTTCCAGTAA: Identity +NM_000089.4:c.3279_3287dup NP_000080.2:p.1091PPG[5] NC_000007.14:94427629:CCCCCTGGTCCCCCTGG:CCCCCTGGTCCCCCTGGTCCCCCTGG p.(Pro1100_Gly1102dup) NC_000007.14:94427629:CCCCCTGGTCCCCCTGG:CCCCCTGGTCCCCCTGGTCCCCCTGG p.(Pro1100_Gly1102dup) ERR:SPDI Analogous +NM_001367258.1:c.528T>A NP_001354187.1:p.Leu176= NC_000005.10:139477389:A:T p.(Leu176=) NC_000005.10:139477389:A:T p.(Leu176=) NC_000005.10:139477389:A:T Identity +NM_001252020.2:c.855C>T NP_001238949.1:p.Gly285= NC_000015.10:31063278:G:A p.(Gly285=) NC_000015.10:31063278:G:A p.(Gly285=) NC_000015.10:31063278:G:A Identity +NM_001145527.2:c.1170G>A NP_001138999.1:p.Lys390= NC_000009.12:137744089:G:A p.(Lys390=) NC_000009.12:137744089:G:A p.(Lys390=) NC_000009.12:137744089:G:A Identity +NM_000095.3:c.2187G>A NP_000086.2:p.Gln729= NC_000019.10:18783093:C:T p.(Gln729=) NC_000019.10:18783093:C:T p.(Gln729=) NC_000019.10:18783093:C:T Identity +NM_000033.4:c.254_280del NP_000024.2:p.Arg85_Leu93del NC_000023.11:153725518:CGGGTCCTGTGCCGGGAGACGGGGCTGC:C p.(Arg85_Leu93del) NC_000023.11:153725518:CGGGTCCTGTGCCGGGAGACGGGGCTGC:C p.(Arg85_Leu93del) NC_000023.11:153725519:GGGTCCTGTGCCGGGAGACGGGGCTGC: Identity +NM_001099922.3:c.1209C>T NP_001093392.1:p.Ser403= NC_000023.11:111718232:C:T p.(Ser403=) NC_000023.11:111718232:C:T p.(Ser403=) NC_000023.11:111718232:C:T Identity +NM_001035.3:c.2718G>A NP_001026.2:p.Pro906= NC_000001.11:237506813:G:A p.(Pro906=) NC_000001.11:237506813:G:A p.(Pro906=) NC_000001.11:237506813:G:A Identity +NM_001077416.2:c.822C>T NP_001070884.2:p.Asn274= NC_000016.10:75542602:G:A p.(Asn274=) NC_000016.10:75542602:G:A p.(Asn274=) NC_000016.10:75542602:G:A Identity +NM_001126131.2:c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC NP_001119603.1:p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln NC_000015.10:89333618:GCTGCTGCTGC:GCTGCTGCTGCTGCTGCCGCCGCCGCTGCCGCTGCTGCTGC p.(Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln) NC_000015.10:89333617:T:GCTGCTGCTGCTGCTGCCGCCGCCGCTGCC p.(Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln) NC_000015.10:89333618:TG:GCTGCTGCTGCTGCTGCCGCCGCCGCTGCC Identity +NM_000553.6:c.3903T>A NP_000544.2:p.Leu1301= NC_000008.11:31157450:T:A p.(Leu1301=) NC_000008.11:31157450:T:A p.(Leu1301=) NC_000008.11:31157450:T:A Identity +NM_001354723.2:c.528T>C NP_001341652.1:p.Cys176= NC_000003.12:10142949:T:C p.(Cys176=) NC_000003.12:10142949:T:C p.(Cys176=) NC_000003.12:10142949:T:C Identity +NM_001293557.2:c.2445C>T NP_001280486.1:p.Cys815= NC_000016.10:50716649:C:T p.(Cys815=) NC_000016.10:50716649:C:T p.(Cys815=) NC_000016.10:50716649:C:T Identity +NM_001098268.2:c.1035G>A NP_001091738.1:p.Lys345= NC_000013.11:108210233:C:T p.(Lys345=) NC_000013.11:108210233:C:T p.(Lys345=) NC_000013.11:108210233:C:T Identity +NM_015384.5:c.1224A>G NP_056199.2:p.Gln408= NC_000005.10:36976130:A:G p.(Gln408=) NC_000005.10:36976130:A:G p.(Gln408=) NC_000005.10:36976130:A:G Identity +NM_001146289.2:c.751_765dup NP_001139761.1:p.Asp251_Tyr255dup NC_000001.11:42759243:GTAGCCATCGTAGTC:GTAGCCATCGTAGTCGTAGCCATCGTAGTC p.(Asp251_Tyr255dup) NC_000001.11:42759243:GTAGCCATCGTAGTC:GTAGCCATCGTAGTCGTAGCCATCGTAGTC p.(Asp251_Tyr255dup) ERR:SPDI Identity +NM_001164277.2:c.264C>T NP_001157749.1:p.Gly88= NC_000011.10:119028310:G:A p.(Gly88=) NC_000011.10:119028310:G:A p.(Gly88=) NC_000011.10:119028310:G:A Identity +NM_000465.4:c.2100C>T NP_000456.2:p.Gly700= NC_000002.12:214728909:G:A p.(Gly700=) NC_000002.12:214728909:G:A p.(Gly700=) NC_000002.12:214728909:G:A Identity +NM_033087.4:c.1054_1055insTGA NP_149078.1:p.Ser352delinsLeuThr NC_000009.12:99218130::TCA p.(Ser352delinsLeuThr) NC_000009.12:99218129:G:TCA p.(Ser352delinsLeuThr) NC_000009.12:99218130:GA:TCA Identity +NM_000528.4:c.309G>A NP_000519.2:p.Ser103= NC_000019.10:12665478:C:T p.(Ser103=) NC_000019.10:12665478:C:T p.(Ser103=) NC_000019.10:12665478:C:T Identity +NM_001378120.1:c.2688C>T NP_001365049.1:p.His896= NC_000002.12:148483278:C:T p.(His896=) NC_000002.12:148483278:C:T p.(His896=) NC_000002.12:148483278:C:T Identity +NM_000264.5:c.3180G>A NP_000255.2:p.Leu1060= NC_000009.12:95456401:C:T p.(Leu1060=) NC_000009.12:95456401:C:T p.(Leu1060=) NC_000009.12:95456401:C:T Identity +NM_000551.4:c.22_27dup NP_000542.1:p.Trp8_Asp9dup NC_000003.12:10141866:ACTGGGAC:ACTGGGACTGGGAC p.(Trp8_Asp9dup) NC_000003.12:10141866:ACTGGGAC:ACTGGGACTGGGAC p.(Trp8_Asp9dup) ERR:SPDI Identity +NM_001351059.2:c.1407C>T NP_001337988.1:p.Gly469= NC_000011.10:68050550:C:T p.(Gly469=) NC_000011.10:68050550:C:T p.(Gly469=) NC_000011.10:68050550:C:T Identity +NM_001379500.1:c.1266A>G NP_001366429.1:p.Gln422= NC_000021.9:45479918:A:G p.(Gln422=) NC_000021.9:45479918:A:G p.(Gln422=) NC_000021.9:45479918:A:G Identity +NM_001143838.3:c.705C>T NP_001137310.1:p.Gly235= NC_000017.11:6702980:G:A p.(Gly235=) NC_000017.11:6702980:G:A p.(Gly235=) NC_000017.11:6702980:G:A Identity +NM_000070.3:c.801T>C NP_000061.1:p.Asp267= NC_000015.10:42389095:T:C p.(Asp267=) NC_000015.10:42389095:T:C p.(Asp267=) NC_000015.10:42389095:T:C Identity +NM_000046.5:c.105G>A NP_000037.2:p.Pro35= NC_000005.10:78985143:C:T p.(Pro35=) NC_000005.10:78985143:C:T p.(Pro35=) NC_000005.10:78985143:C:T Identity +NM_001029883.3:c.3675C>T NP_001025054.1:p.Ser1225= NC_000002.12:29065060:G:A p.(Ser1225=) NC_000002.12:29065060:G:A p.(Ser1225=) NC_000002.12:29065060:G:A Identity +NM_002067.5:c.138C>T NP_002058.2:p.Gly46= NC_000019.10:3110149:C:T p.(Gly46=) NC_000019.10:3110149:C:T p.(Gly46=) NC_000019.10:3110149:C:T Identity +NM_001376.5:c.9219G>A NP_001367.2:p.Glu3073= NC_000014.9:102027788:G:A p.(Glu3073=) NC_000014.9:102027788:G:A p.(Glu3073=) NC_000014.9:102027788:G:A Identity +NM_001378454.1:c.144A>G NP_001365383.1:p.Glu48= NC_000002.12:73386011:A:G p.(Glu48=) NC_000002.12:73386011:A:G p.(Glu48=) NC_000002.12:73386011:A:G Identity +NM_001126131.2:c.3633G>T NP_001119603.1:p.Gly1211= NC_000015.10:89317385:C:A p.(Gly1211=) NC_000015.10:89317385:C:A p.(Gly1211=) NC_000015.10:89317385:C:A Identity +NM_001127244.2:c.2250G>A NP_001120716.1:p.Val750= NC_000009.12:128916187:G:A p.(Val750=) NC_000009.12:128916187:G:A p.(Val750=) NC_000009.12:128916187:G:A Identity +NM_003334.4:c.2106C>G NP_003325.2:p.Thr702= NC_000023.11:47210029:C:G p.(Thr702=) NC_000023.11:47210029:C:G p.(Thr702=) NC_000023.11:47210029:C:G Identity +NM_001363813.1:c.2_10del NP_001350742.1:p.Met1_Ala4delinsThr NC_000017.11:65558610:CGCTACTCA: p.(Met1_Ala4delinsThr) NC_000017.11:65558610:CGCTACTCA: p.Met1? NC_000017.11:65558610:CGCTACTCA: Identity +NM_000059.4:c.4107T>G NP_000050.3:p.Ser1369= NC_000013.11:32338461:T:G p.(Ser1369=) NC_000013.11:32338461:T:G p.(Ser1369=) NC_000013.11:32338461:T:G Identity +NM_000059.4:c.5514G>A NP_000050.3:p.Glu1838= NC_000013.11:32339868:G:A p.(Glu1838=) NC_000013.11:32339868:G:A p.(Glu1838=) NC_000013.11:32339868:G:A Identity +NM_001350522.3:c.6942C>T NP_001337451.1:p.Ala2314= NC_000001.11:149031992:C:T p.(Ala2314=) NC_000001.11:149031992:C:T p.(Ala2314=) NC_000001.11:149031992:C:T Identity +NM_001035.3:c.4704G>A NP_001026.2:p.Ala1568= NC_000001.11:237610781:G:A p.(Ala1568=) NC_000001.11:237610781:G:A p.(Ala1568=) NC_000001.11:237610781:G:A Identity +NM_001958.5:c.915C>T NP_001949.1:p.Gly305= NC_000020.11:63490592:G:A p.(Gly305=) NC_000020.11:63490592:G:A p.(Gly305=) NC_000020.11:63490592:G:A Identity +NM_000540.3:c.1440G>A NP_000531.2:p.Glu480= NC_000019.10:38453013:G:A p.(Glu480=) NC_000019.10:38453013:G:A p.(Glu480=) NC_000019.10:38453013:G:A Identity +NM_001354723.2:c.459A>C NP_001341652.1:p.Gly153= NC_000003.12:10142880:A:C p.(Gly153=) NC_000003.12:10142880:A:C p.(Gly153=) NC_000003.12:10142880:A:C Identity +NM_001144769.5:c.15321G>A NP_001138241.1:p.Val5107= NC_000006.12:56476334:C:T p.(Val5107=) NC_000006.12:56476334:C:T p.(Val5107=) NC_000006.12:56476334:C:T Identity +NM_001242881.2:c.333G>A NP_001229810.1:p.Ala111= NC_000013.11:110625224:G:A p.(Ala111=) NC_000013.11:110625224:G:A p.(Ala111=) NC_000013.11:110625224:G:A Identity +NM_001305275.2:c.3750T>C NP_001292204.1:p.Phe1250= NC_000001.11:1047893:T:C p.(Phe1250=) NC_000001.11:1047893:T:C p.(Phe1250=) NC_000001.11:1047893:T:C Identity +NM_000465.4:c.537A>G NP_000456.2:p.Ser179= NC_000002.12:214781336:T:C p.(Ser179=) NC_000002.12:214781336:T:C p.(Ser179=) NC_000002.12:214781336:T:C Identity +NM_001167961.2:c.195C>T NP_001161433.1:p.Arg65= NC_000007.14:66633324:C:T p.(Arg65=) NC_000007.14:66633324:C:T p.(Arg65=) NC_000007.14:66633324:C:T Identity +NM_012469.4:c.2430C>T NP_036601.2:p.Ser810= NC_000020.11:64028567:C:T p.(Ser810=) NC_000020.11:64028567:C:T p.(Ser810=) NC_000020.11:64028567:C:T Identity +NM_001182.5:c.1023C>T NP_001173.2:p.Ser341= NC_000005.10:126556000:G:A p.(Ser341=) NC_000005.10:126556000:G:A p.(Ser341=) NC_000005.10:126556000:G:A Identity +NM_001321038.2:c.858_859delinsGT NP_001307967.1:p.Tyr286_Ser287delinsTer NC_000001.11:108901849:CA:GT p.(Tyr286Ter) NC_000001.11:108901849:CA:GT p.(Tyr286Ter) NC_000001.11:108901849:CA:GT Analogous +NM_001354609.2:c.858T>G NP_001341538.1:p.Leu286= NC_000007.14:140801413:A:C p.(Leu286=) NC_000007.14:140801413:A:C p.(Leu286=) NC_000007.14:140801413:A:C Identity +NM_000289.6:c.1607del NP_000280.1:p.Gly535_Ser536insTer NC_000012.12:48142019:C: p.(Ser536Ter) NC_000012.12:48142019:C: p.(Ser536Ter) NC_000012.12:48142019:C: Analogous +NM_001288951.2:c.565del NP_001275880.1:p.Arg188_Leu189insTer NC_000002.12:46975018:CC:C p.(Leu189Ter) NC_000002.12:46975018:CC:C p.(Leu189Ter) NC_000002.12:46975019:C: Analogous +NM_001363729.2:c.1419del NP_001350658.1:p.Asp472_Tyr473insTer NC_000020.11:36904240:A: p.(Tyr473Ter) NC_000020.11:36904240:A: p.(Tyr473Ter) NC_000020.11:36904240:A: Analogous +NM_001363520.3:c.676delT NP_001350449.1:p.Leu226Terfs NC_000004.12:127930802:AA:A p.(Leu226Ter) NC_000004.12:127930802:AA:A p.(Leu226Ter) NC_000004.12:127930803:A: Analogous +NM_001182.5:c.834G>C NP_001173.2:p.Val278= NC_000005.10:126568295:C:G p.(Val278=) NC_000005.10:126568295:C:G p.(Val278=) NC_000005.10:126568295:C:G Identity +NM_001042537.2:c.324T>C NP_001036002.1:p.Tyr108= NC_000023.11:135985825:T:C p.(Tyr108=) NC_000023.11:135985825:T:C p.(Tyr108=) NC_000023.11:135985825:T:C Identity +NM_001164507.2:c.22203C>G NP_001157979.2:p.Ser7401= NC_000002.12:151525231:G:C p.(Ser7401=) NC_000002.12:151525231:G:C p.(Ser7401=) NC_000002.12:151525231:G:C Identity +NM_001290309.3:c.2196A>G NP_001277238.1:p.Ala732= NC_000005.10:138933872:A:G p.(Ala732=) NC_000005.10:138933872:A:G p.(Ala732=) NC_000005.10:138933872:A:G Identity +NM_001330723.2:c.138C>T NP_001317652.1:p.Ile46= NC_000001.11:151612338:C:T p.(Ile46=) NC_000001.11:151612338:C:T p.(Ile46=) NC_000001.11:151612338:C:T Identity +NM_000081.4:c.8088T>G NP_000072.2:p.Ser2696= NC_000001.11:235744041:A:C p.(Ser2696=) NC_000001.11:235744041:A:C p.(Ser2696=) NC_000001.11:235744041:A:C Identity +NM_001008222.3:c.549C>T NP_001008223.1:p.Tyr183= NC_000023.11:129814733:G:A p.(Tyr183=) NC_000023.11:129814733:G:A p.(Tyr183=) NC_000023.11:129814733:G:A Identity +NM_005562.3:c.2853C>T NP_005553.2:p.Ile951= NC_000001.11:183238404:C:T p.(Ile951=) NC_000001.11:183238404:C:T p.(Ile951=) NC_000001.11:183238404:C:T Identity +NM_000264.5:c.2286G>C NP_000255.2:p.Gly762= NC_000009.12:95467389:C:G p.(Gly762=) NC_000009.12:95467389:C:G p.(Gly762=) NC_000009.12:95467389:C:G Identity +NM_001278055.2:c.11844C>T NP_001264984.1:p.Asp3948= NC_000013.11:23331590:G:A p.(Asp3948=) NC_000013.11:23331590:G:A p.(Asp3948=) NC_000013.11:23331590:G:A Identity +NM_133259.4:c.2865C>T NP_573566.2:p.Asp955= NC_000002.12:43925097:G:A p.(Asp955=) NC_000002.12:43925097:G:A p.(Asp955=) NC_000002.12:43925097:G:A Identity +NM_001363746.1:c.441G>A NP_001350675.1:p.Lys147= NC_000009.12:136199039:C:T p.(Lys147=) NC_000009.12:136199039:C:T p.(Lys147=) NC_000009.12:136199039:C:T Identity +NM_000069.3:c.5613A>G NP_000060.2:p.Pro1871= NC_000001.11:201039839:T:C p.(Pro1871=) NC_000001.11:201039839:T:C p.(Pro1871=) NC_000001.11:201039839:T:C Identity +NM_033087.4:c.627C>T NP_149078.1:p.Asp209= NC_000009.12:99218557:G:A p.(Asp209=) NC_000009.12:99218557:G:A p.(Asp209=) NC_000009.12:99218557:G:A Identity +NM_000195.5:c.378C>T NP_000186.2:p.Asp126= NC_000010.11:98435291:G:A p.(Asp126=) NC_000010.11:98435291:G:A p.(Asp126=) NC_000010.11:98435291:G:A Identity +NM_001321015.2:c.204G>A NP_001307944.1:p.Arg68= NC_000015.10:45368153:C:T p.(Arg68=) NC_000015.10:45368153:C:T p.(Arg68=) NC_000015.10:45368153:C:T Identity +NM_000046.5:c.1203C>T NP_000037.2:p.Asp401= NC_000005.10:78839365:G:A p.(Asp401=) NC_000005.10:78839365:G:A p.(Asp401=) NC_000005.10:78839365:G:A Identity +NM_003079.5:c.657C>T NP_003070.3:p.Val219= NC_000017.11:40632251:G:A p.(Val219=) NC_000017.11:40632251:G:A p.(Val219=) NC_000017.11:40632251:G:A Identity +NM_001166687.2:c.921C>T NP_001160159.1:p.Ala307= NC_000012.12:48135367:C:T p.(Ala307=) NC_000012.12:48135367:C:T p.(Ala307=) NC_000012.12:48135367:C:T Identity +NM_005045.4:c.9837C>T NP_005036.2:p.Thr3279= NC_000007.14:103486342:G:A p.(Thr3279=) NC_000007.14:103486342:G:A p.(Thr3279=) NC_000007.14:103486342:G:A Identity +NM_001136139.4:c.702G>A NP_001129611.1:p.Ala234= NC_000019.10:1622173:C:T p.(Ala234=) NC_000019.10:1622173:C:T p.(Ala234=) NC_000019.10:1622173:C:T Identity +NM_001164507.2:c.23382G>T NP_001157979.2:p.Ser7794= NC_000002.12:151508073:C:A p.(Ser7794=) NC_000002.12:151508073:C:A p.(Ser7794=) NC_000002.12:151508073:C:A Identity +NM_004360.5:c.1215T>C NP_004351.1:p.Asn405= NC_000016.10:68813389:T:C p.(Asn405=) NC_000016.10:68813389:T:C p.(Asn405=) NC_000016.10:68813389:T:C Identity +NM_001185039.2:c.789C>A NP_001171968.1:p.Ile263= NC_000017.11:75953491:G:T p.(Ile263=) NC_000017.11:75953491:G:T p.(Ile263=) NC_000017.11:75953491:G:T Identity +NM_001127713.1:c.1452C>T NP_001121185.1:p.Thr484= NC_000014.9:50628362:C:T p.(Thr484=) NC_000014.9:50628362:C:T p.(Thr484=) NC_000014.9:50628362:C:T Identity +NM_004204.5:c.741C>T NP_004195.2:p.Cys247= NC_000016.10:575889:C:T p.(Cys247=) NC_000016.10:575889:C:T p.(Cys247=) NC_000016.10:575889:C:T Identity +NM_000108.5:c.540T>C NP_000099.2:p.Leu180= NC_000007.14:107905461:T:C p.(Leu180=) NC_000007.14:107905461:T:C p.(Leu180=) NC_000007.14:107905461:T:C Identity +NM_001310332.2:c.1092G>A NP_001297261.1:p.Ser364= NC_000014.9:24151186:G:A p.(Ser364=) NC_000014.9:24151186:G:A p.(Ser364=) NC_000014.9:24151186:G:A Identity +NM_005045.4:c.1392A>C NP_005036.2:p.Pro464= NC_000007.14:103661424:T:G p.(Pro464=) NC_000007.14:103661424:T:G p.(Pro464=) NC_000007.14:103661424:T:G Identity +NM_000383.4:c.1491T>C NP_000374.1:p.Pro497= NC_000021.9:44294490:T:C p.(Pro497=) NC_000021.9:44294490:T:C p.(Pro497=) NC_000021.9:44294490:T:C Identity +NM_000263.4:c.219G>A NP_000254.2:p.Ala73= NC_000017.11:42536490:G:A p.(Ala73=) NC_000017.11:42536490:G:A p.(Ala73=) NC_000017.11:42536490:G:A Identity +NM_001330358.2:c.540G>T NP_001317287.1:p.Thr180= NC_000001.11:11801218:C:A p.(Thr180=) NC_000001.11:11801218:C:A p.(Thr180=) NC_000001.11:11801218:C:A Identity +NM_012448.4:c.2361G>A NP_036580.2:p.Ser787= NC_000017.11:42201740:C:T p.(Ser787=) NC_000017.11:42201740:C:T p.(Ser787=) NC_000017.11:42201740:C:T Identity +NM_001377322.1:c.618C>G NP_001364251.1:p.Leu206= NC_000010.11:20809809:G:C p.(Leu206=) NC_000010.11:20809809:G:C p.(Leu206=) NC_000010.11:20809809:G:C Identity +NM_152383.5:c.2571G>C NP_689596.4:p.Leu857= NC_000002.12:232336542:G:C p.(Leu857=) NC_000002.12:232336542:G:C p.(Leu857=) NC_000002.12:232336542:G:C Identity +NM_000246.4:c.681C>A NP_000237.2:p.Ile227= NC_000016.10:10902709:C:A p.(Ile227=) NC_000016.10:10902709:C:A p.(Ile227=) NC_000016.10:10902709:C:A Identity +NM_014252.4:c.135G>A NP_055067.1:p.Arg45= NC_000013.11:40799135:G:A p.(Arg45=) NC_000013.11:40799135:G:A p.(Arg45=) NC_000013.11:40799135:G:A Identity +NM_000553.6:c.3643C>T NP_000544.2:p.Leu1215= NC_000008.11:31150410:C:T p.(Leu1215=) NC_000008.11:31150410:C:T p.(Leu1215=) NC_000008.11:31150410:C:T Identity +NM_000352.6:c.4674G>A NP_000343.2:p.Glu1558= NC_000011.10:17393062:C:T p.(Glu1558=) NC_000011.10:17393062:C:T p.(Glu1558=) NC_000011.10:17393062:C:T Identity +NM_001256850.1:c.90603C>T NP_001243779.1:p.Tyr30201= NC_000002.12:178545583:G:A p.(Tyr30201=) NC_000002.12:178545583:G:A p.(Tyr30201=) NC_000002.12:178545583:G:A Identity +NM_000378.6:c.1110A>T NP_000369.4:p.Ala370= NC_000011.10:32396359:T:A p.(Ala370=) NC_000011.10:32396359:T:A p.(Ala370=) NC_000011.10:32396359:T:A Identity +NM_001330347.2:c.711C>T NP_001317276.1:p.Phe237= NC_000011.10:94471707:G:A p.(Phe237=) NC_000011.10:94471707:G:A p.(Phe237=) NC_000011.10:94471707:G:A Identity +NM_001303256.3:c.2355G>A NP_001290185.1:p.Ser785= NC_000022.11:30933490:C:T p.(Ser785=) NC_000022.11:30933490:C:T p.(Ser785=) NC_000022.11:30933490:C:T Identity +NM_000481.4:c.621T>C NP_000472.2:p.Ser207= NC_000003.12:49419334:A:G p.(Ser207=) NC_000003.12:49419334:A:G p.(Ser207=) NC_000003.12:49419334:A:G Identity +NM_000081.4:c.4647C>T NP_000072.2:p.Ile1549= NC_000001.11:235788741:G:A p.(Ile1549=) NC_000001.11:235788741:G:A p.(Ile1549=) NC_000001.11:235788741:G:A Identity +NM_001148.6:c.8643A>G NP_001139.3:p.Glu2881= NC_000004.12:113357260:A:G p.(Glu2881=) NC_000004.12:113357260:A:G p.(Glu2881=) NC_000004.12:113357260:A:G Identity +NM_001127487.2:c.2322G>A NP_001120959.1:p.Val774= NC_000007.14:128842630:G:A p.(Val774=) NC_000007.14:128842630:G:A p.(Val774=) NC_000007.14:128842630:G:A Identity +NM_001173479.2:c.1065G>A NP_001166950.1:p.Lys355= NC_000023.11:63655569:C:T p.(Lys355=) NC_000023.11:63655569:C:T p.(Lys355=) NC_000023.11:63655569:C:T Identity +NM_000540.3:c.10602G>A NP_000531.2:p.Thr3534= NC_000019.10:38525477:G:A p.(Thr3534=) NC_000019.10:38525477:G:A p.(Thr3534=) NC_000019.10:38525477:G:A Identity +NM_199292.3:c.181A>C NP_954986.2:p.Arg61= NC_000011.10:2170691:T:G p.(Arg61=) NC_000011.10:2170691:T:G p.(Arg61=) NC_000011.10:2170691:T:G Identity +NM_000117.3:c.688C>T NP_000108.1:p.Leu230= NC_000023.11:154381119:C:T p.(Leu230=) NC_000023.11:154381119:C:T p.(Leu230=) NC_000023.11:154381119:C:T Identity +NM_152383.5:c.2217T>C NP_689596.4:p.Cys739= NC_000002.12:232334426:T:C p.(Cys739=) NC_000002.12:232334426:T:C p.(Cys739=) NC_000002.12:232334426:T:C Identity +NM_000222.3:c.369C>T NP_000213.1:p.Ser123= NC_000004.12:54698314:C:T p.(Ser123=) NC_000004.12:54698314:C:T p.(Ser123=) NC_000004.12:54698314:C:T Identity +NM_032119.4:c.13485G>A NP_115495.3:p.Ala4495= NC_000005.10:90783888:G:A p.(Ala4495=) NC_000005.10:90783888:G:A p.(Ala4495=) NC_000005.10:90783888:G:A Identity +NM_021922.3:c.744A>G NP_068741.1:p.Ala248= NC_000006.12:35456241:A:G p.(Ala248=) NC_000006.12:35456241:A:G p.(Ala248=) NC_000006.12:35456241:A:G Identity +NM_004260.4:c.3214A>C NP_004251.4:p.Arg1072= NC_000008.11:144512165:T:G p.(Arg1072=) NC_000008.11:144512165:T:G p.(Arg1072=) NC_000008.11:144512165:T:G Identity +NM_001365536.1:c.498A>G NP_001352465.1:p.Glu166= NC_000002.12:166305889:T:C p.(Glu166=) NC_000002.12:166305889:T:C p.(Glu166=) NC_000002.12:166305889:T:C Identity +NM_004946.3:c.4794C>T NP_004937.1:p.Phe1598= NC_000005.10:170076011:C:T p.(Phe1598=) NC_000005.10:170076011:C:T p.(Phe1598=) NC_000005.10:170076011:C:T Identity +NM_001142929.2:c.990C>T NP_001136401.2:p.Ile330= NC_000010.11:49648568:C:T p.(Ile330=) NC_000010.11:49648568:C:T p.(Ile330=) NC_000010.11:49648568:C:T Identity +NM_021831.6:c.2388G>A NP_068603.4:p.Pro796= NC_000002.12:27069604:G:A p.(Pro796=) NC_000002.12:27069604:G:A p.(Pro796=) NC_000002.12:27069604:G:A Identity +NM_000070.3:c.2055G>A NP_000061.1:p.Lys685= NC_000015.10:42409934:G:A p.(Lys685=) NC_000015.10:42409934:G:A p.(Lys685=) NC_000015.10:42409934:G:A Identity +NM_001199397.3:c.3054G>C NP_001186326.1:p.Val1018= NC_000004.12:169424720:C:G p.(Val1018=) NC_000004.12:169424720:C:G p.(Val1018=) NC_000004.12:169424720:C:G Identity +NM_001144769.5:c.2727C>T NP_001138241.1:p.Asn909= NC_000006.12:56639482:G:A p.(Asn909=) NC_000006.12:56639482:G:A p.(Asn909=) NC_000006.12:56639482:G:A Identity +NM_014714.4:c.2388G>A NP_055529.2:p.Lys796= NC_000016.10:1557945:C:T p.(Lys796=) NC_000016.10:1557945:C:T p.(Lys796=) NC_000016.10:1557945:C:T Identity +NM_145178.4:c.144C>T NP_660161.1:p.Arg48= NC_000010.11:68231533:G:A p.(Arg48=) NC_000010.11:68231533:G:A p.(Arg48=) NC_000010.11:68231533:G:A Identity +NM_000920.4:c.1690C>T NP_000911.2:p.Leu564= NC_000011.10:66852573:G:A p.(Leu564=) NC_000011.10:66852573:G:A p.(Leu564=) NC_000011.10:66852573:G:A Identity +NM_001376472.1:c.1071C>T NP_001363401.1:p.Ser357= NC_000022.11:50061645:G:A p.(Ser357=) NC_000022.11:50061645:G:A p.(Ser357=) NC_000022.11:50061645:G:A Identity +NM_001378120.1:c.81T>G NP_001365049.1:p.Arg27= NC_000002.12:148458838:T:G p.(Arg27=) NC_000002.12:148458838:T:G p.(Arg27=) NC_000002.12:148458838:T:G Identity +NM_001330358.2:c.942G>A NP_001317287.1:p.Lys314= NC_000001.11:11795309:C:T p.(Lys314=) NC_000001.11:11795309:C:T p.(Lys314=) NC_000001.11:11795309:C:T Identity +NM_001195286.2:c.1008C>T NP_001182215.1:p.Asp336= NC_000006.12:401688:C:T p.(Asp336=) NC_000006.12:401688:C:T p.(Asp336=) NC_000006.12:401688:C:T Identity +NM_001349253.2:c.4701T>C NP_001336182.1:p.Cys1567= NC_000003.12:38847368:A:G p.(Cys1567=) NC_000003.12:38847368:A:G p.(Cys1567=) NC_000003.12:38847368:A:G Identity +NM_004055.5:c.1785G>A NP_004046.2:p.Val595= NC_000011.10:77123731:G:A p.(Val595=) NC_000011.10:77123731:G:A p.(Val595=) NC_000011.10:77123731:G:A Identity +NM_000302.4:c.297A>G NP_000293.2:p.Ala99= NC_000001.11:11949900:A:G p.(Ala99=) NC_000001.11:11949900:A:G p.(Ala99=) NC_000001.11:11949900:A:G Identity +NM_001080124.2:c.774C>T NP_001073593.1:p.Thr258= NC_000002.12:201284831:C:T p.(Thr258=) NC_000002.12:201284831:C:T p.(Thr258=) NC_000002.12:201284831:C:T Identity +NM_000203.5:c.1437G>A NP_000194.2:p.Gly479= NC_000004.12:1003069:G:A p.(Gly479=) NC_000004.12:1003069:G:A p.(Gly479=) NC_000004.12:1003069:G:A Identity +NM_014003.4:c.1923C>T NP_054722.2:p.Ala641= NC_000016.10:72104043:C:T p.(Ala641=) NC_000016.10:72104043:C:T p.(Ala641=) NC_000016.10:72104043:C:T Identity +NM_001330540.2:c.399C>T NP_001317469.1:p.Ile133= NC_000001.11:45508935:C:T p.(Ile133=) NC_000001.11:45508935:C:T p.(Ile133=) NC_000001.11:45508935:C:T Identity +NM_000018.4:c.402G>A NP_000009.1:p.Gln134= NC_000017.11:7220982:G:A p.(Gln134=) NC_000017.11:7220982:G:A p.(Gln134=) NC_000017.11:7220982:G:A Identity +NM_001256850.1:c.61918C>T NP_001243779.1:p.Leu20640= NC_000002.12:178580537:G:A p.(Leu20640=) NC_000002.12:178580537:G:A p.(Leu20640=) NC_000002.12:178580537:G:A Identity +NM_000719.7:c.1035C>T NP_000710.5:p.Asn345= NC_000012.12:2493307:C:T p.(Asn345=) NC_000012.12:2493307:C:T p.(Asn345=) NC_000012.12:2493307:C:T Identity +NM_001031681.3:c.783G>A NP_001026851.2:p.Thr261= NC_000017.11:3658105:G:A p.(Thr261=) NC_000017.11:3658105:G:A p.(Thr261=) NC_000017.11:3658105:G:A Identity +NM_001318219.1:c.933T>C NP_001305148.1:p.Asp311= NC_000020.11:35491285:T:C p.(Asp311=) NC_000020.11:35491285:T:C p.(Asp311=) NC_000020.11:35491285:T:C Identity +NM_000231.3:c.399A>G NP_000222.2:p.Val133= NC_000013.11:23279371:A:G p.(Val133=) NC_000013.11:23279371:A:G p.(Val133=) NC_000013.11:23279371:A:G Identity +NM_001271.4:c.5370C>T NP_001262.3:p.Pro1790= NC_000015.10:93024587:C:T p.(Pro1790=) NC_000015.10:93024587:C:T p.(Pro1790=) NC_000015.10:93024587:C:T Identity +NM_001127487.2:c.543C>T NP_001120959.1:p.Phe181= NC_000007.14:128835515:C:T p.(Phe181=) NC_000007.14:128835515:C:T p.(Phe181=) NC_000007.14:128835515:C:T Identity +NM_004304.5:c.2472C>T NP_004295.2:p.Ala824= NC_000002.12:29233579:G:A p.(Ala824=) NC_000002.12:29233579:G:A p.(Ala824=) NC_000002.12:29233579:G:A Identity +NM_001291593.2:c.789G>A NP_001278522.1:p.Pro263= NC_000001.11:5887442:C:T p.(Pro263=) NC_000001.11:5887442:C:T p.(Pro263=) NC_000001.11:5887442:C:T Identity +NM_015346.4:c.540C>T NP_056161.2:p.Asp180= NC_000014.9:67807743:G:A p.(Asp180=) NC_000014.9:67807743:G:A p.(Asp180=) NC_000014.9:67807743:G:A Identity +NM_000109.4:c.10065T>A NP_000100.3:p.Thr3355= NC_000023.11:31178802:A:T p.(Thr3355=) NC_000023.11:31178802:A:T p.(Thr3355=) NC_000023.11:31178802:A:T Identity +NM_001166136.2:c.681C>T NP_001159608.1:p.Leu227= NC_000004.12:5665598:G:A p.(Leu227=) NC_000004.12:5665598:G:A p.(Leu227=) NC_000004.12:5665598:G:A Identity +NM_001142800.2:c.3984T>A NP_001136272.1:p.Ile1328= NC_000006.12:64591882:A:T p.(Ile1328=) NC_000006.12:64591882:A:T p.(Ile1328=) NC_000006.12:64591882:A:T Identity +NM_001001557.4:c.295C>T NP_001001557.1:p.Leu99= NC_000008.11:96160397:G:A p.(Leu99=) NC_000008.11:96160397:G:A p.(Leu99=) NC_000008.11:96160397:G:A Identity +NM_001350234.2:c.699G>A NP_001337163.1:p.Val233= NC_000001.11:9716537:G:A p.(Val233=) NC_000001.11:9716537:G:A p.(Val233=) NC_000001.11:9716537:G:A Identity +NM_000445.5:c.10806C>T NP_000436.2:p.Pro3602= NC_000008.11:143919095:G:A p.(Pro3602=) NC_000008.11:143919095:G:A p.(Pro3602=) NC_000008.11:143919095:G:A Identity +NM_004304.5:c.1000C>T NP_004295.2:p.Leu334= NC_000002.12:29532068:G:A p.(Leu334=) NC_000002.12:29532068:G:A p.(Leu334=) NC_000002.12:29532068:G:A Identity +NM_005045.4:c.3447A>G NP_005036.2:p.Arg1149= NC_000007.14:103596547:T:C p.(Arg1149=) NC_000007.14:103596547:T:C p.(Arg1149=) NC_000007.14:103596547:T:C Identity +NM_001378120.1:c.2649A>G NP_001365049.1:p.Leu883= NC_000002.12:148483239:A:G p.(Leu883=) NC_000002.12:148483239:A:G p.(Leu883=) NC_000002.12:148483239:A:G Identity +NM_014625.4:c.732T>C NP_055440.1:p.Asp244= NC_000001.11:179557032:A:G p.(Asp244=) NC_000001.11:179557032:A:G p.(Asp244=) NC_000001.11:179557032:A:G Identity +NM_004565.3:c.9C>T NP_004556.1:p.Ser3= NC_000001.11:10474974:C:T p.(Ser3=) NC_000001.11:10474974:C:T p.(Ser3=) NC_000001.11:10474974:C:T Identity +NM_017890.5:c.9309T>C NP_060360.3:p.Ile3103= NC_000008.11:99823881:T:C p.(Ile3103=) NC_000008.11:99823881:T:C p.(Ile3103=) NC_000008.11:99823881:T:C Identity +NM_032119.4:c.627T>G NP_115495.3:p.Pro209= NC_000005.10:90625197:T:G p.(Pro209=) NC_000005.10:90625197:T:G p.(Pro209=) NC_000005.10:90625197:T:G Identity +NM_000553.6:c.2076A>G NP_000544.2:p.Thr692= NC_000008.11:31100942:A:G p.(Thr692=) NC_000008.11:31100942:A:G p.(Thr692=) NC_000008.11:31100942:A:G Identity +NM_000426.4:c.8589A>G NP_000417.3:p.Val2863= NC_000006.12:129505240:A:G p.(Val2863=) NC_000006.12:129505240:A:G p.(Val2863=) NC_000006.12:129505240:A:G Identity +NM_000380.4:c.717G>A NP_000371.1:p.Thr239= NC_000009.12:97675543:C:T p.(Thr239=) NC_000009.12:97675543:C:T p.(Thr239=) NC_000009.12:97675543:C:T Identity +NM_001113378.2:c.3291A>G NP_001106849.1:p.Glu1097= NC_000015.10:89305639:A:G p.(Glu1097=) NC_000015.10:89305639:A:G p.(Glu1097=) NC_000015.10:89305639:A:G Identity +NM_001376.5:c.118C>T NP_001367.2:p.Leu40= NC_000014.9:101964808:C:T p.(Leu40=) NC_000014.9:101964808:C:T p.(Leu40=) NC_000014.9:101964808:C:T Identity +NM_000448.3:c.1246C>T NP_000439.2:p.Leu416= NC_000011.10:36574549:C:T p.(Leu416=) NC_000011.10:36574549:C:T p.(Leu416=) NC_000011.10:36574549:C:T Identity +NM_020533.3:c.1176C>T NP_065394.1:p.Thr392= NC_000019.10:7529141:C:T p.(Thr392=) NC_000019.10:7529141:C:T p.(Thr392=) NC_000019.10:7529141:C:T Identity +NM_001291902.2:c.1299C>T NP_001278831.1:p.Thr433= NC_000011.10:68423502:C:T p.(Thr433=) NC_000011.10:68423502:C:T p.(Thr433=) NC_000011.10:68423502:C:T Identity +NM_145178.4:c.453C>T NP_660161.1:p.Ala151= NC_000010.11:68231224:G:A p.(Ala151=) NC_000010.11:68231224:G:A p.(Ala151=) NC_000010.11:68231224:G:A Identity +NM_015072.5:c.3331C>T NP_055887.3:p.Leu1111= NC_000014.9:75863670:C:T p.(Leu1111=) NC_000014.9:75863670:C:T p.(Leu1111=) NC_000014.9:75863670:C:T Identity +NM_000541.5:c.786C>T NP_000532.2:p.Pro262= NC_000002.12:233331691:C:T p.(Pro262=) NC_000002.12:233331691:C:T p.(Pro262=) NC_000002.12:233331691:C:T Identity +NM_001363813.1:c.1155G>A NP_001350742.1:p.Leu385= NC_000017.11:65538247:C:T p.(Leu385=) NC_000017.11:65538247:C:T p.(Leu385=) NC_000017.11:65538247:C:T Identity +NM_001195573.1:c.369A>G NP_001182502.1:p.Glu123= NC_000014.9:95131577:T:C p.(Glu123=) NC_000014.9:95131577:T:C p.(Glu123=) NC_000014.9:95131577:T:C Identity +NM_001351527.2:c.27A>G NP_001338456.1:p.Pro9= NC_000009.12:132349401:T:C p.(Pro9=) NC_000009.12:132349401:T:C p.(Pro9=) NC_000009.12:132349401:T:C Identity +NM_001042537.2:c.156C>T NP_001036002.1:p.Ala52= NC_000023.11:135985657:C:T p.(Ala52=) NC_000023.11:135985657:C:T p.(Ala52=) NC_000023.11:135985657:C:T Identity +NM_001347827.2:c.615T>C NP_001334756.1:p.Val205= NC_000004.12:54263913:T:C p.(Val205=) NC_000004.12:54263913:T:C p.(Val205=) NC_000004.12:54263913:T:C Identity +NM_001164507.2:c.13713C>T NP_001157979.2:p.Tyr4571= NC_000002.12:151600516:G:A p.(Tyr4571=) NC_000002.12:151600516:G:A p.(Tyr4571=) NC_000002.12:151600516:G:A Identity +NM_002471.4:c.3351C>A NP_002462.2:p.Ile1117= NC_000014.9:23390437:G:T p.(Ile1117=) NC_000014.9:23390437:G:T p.(Ile1117=) NC_000014.9:23390437:G:T Identity +NM_000287.4:c.2202C>A NP_000278.3:p.Gly734= NC_000006.12:42966339:G:T p.(Gly734=) NC_000006.12:42966339:G:T p.(Gly734=) NC_000006.12:42966339:G:T Identity +NM_000548.5:c.3549G>C NP_000539.2:p.Leu1183= NC_000016.10:2080315:G:C p.(Leu1183=) NC_000016.10:2080315:G:C p.(Leu1183=) NC_000016.10:2080315:G:C Identity +NM_002292.4:c.2754G>T NP_002283.3:p.Leu918= NC_000003.12:49125135:C:A p.(Leu918=) NC_000003.12:49125135:C:A p.(Leu918=) NC_000003.12:49125135:C:A Identity +NM_001558.4:c.1326A>G NP_001549.2:p.Ala442= NC_000011.10:117999229:A:G p.(Ala442=) NC_000011.10:117999229:A:G p.(Ala442=) NC_000011.10:117999229:A:G Identity +NM_001164507.2:c.13191C>T NP_001157979.2:p.Ala4397= NC_000002.12:151603640:G:A p.(Ala4397=) NC_000002.12:151603640:G:A p.(Ala4397=) NC_000002.12:151603640:G:A Identity +NM_000051.4:c.408T>A NP_000042.3:p.Ile136= NC_000011.10:108235745:T:A p.(Ile136=) NC_000011.10:108235745:T:A p.(Ile136=) NC_000011.10:108235745:T:A Identity +NM_001164507.2:c.5094C>T NP_001157979.2:p.Ser1698= NC_000002.12:151665476:G:A p.(Ser1698=) NC_000002.12:151665476:G:A p.(Ser1698=) NC_000002.12:151665476:G:A Identity +NM_001278055.2:c.11256C>T NP_001264984.1:p.Leu3752= NC_000013.11:23332178:G:A p.(Leu3752=) NC_000013.11:23332178:G:A p.(Leu3752=) NC_000013.11:23332178:G:A Identity +NM_000154.2:c.829C>A NP_000145.1:p.Arg277= NC_000017.11:75758563:G:T p.(Arg277=) NC_000017.11:75758563:G:T p.(Arg277=) NC_000017.11:75758563:G:T Identity +NM_002471.4:c.636G>T NP_002462.2:p.Ala212= NC_000014.9:23404716:C:A p.(Ala212=) NC_000014.9:23404716:C:A p.(Ala212=) NC_000014.9:23404716:C:A Identity +NM_000441.2:c.1887C>A NP_000432.1:p.Ile629= NC_000007.14:107701909:C:A p.(Ile629=) NC_000007.14:107701909:C:A p.(Ile629=) NC_000007.14:107701909:C:A Identity +NM_012079.6:c.1464C>T NP_036211.2:p.Ala488= NC_000008.11:144316556:G:A p.(Ala488=) NC_000008.11:144316556:G:A p.(Ala488=) NC_000008.11:144316556:G:A Identity +NM_001039958.2:c.1177C>T NP_001035047.1:p.Leu393= NC_000015.10:89778316:C:T p.(Leu393=) NC_000015.10:89778316:C:T p.(Leu393=) NC_000015.10:89778316:C:T Identity +NM_001318872.2:c.906T>G NP_001305801.1:p.Ala302= NC_000006.12:5545180:T:G p.(Ala302=) NC_000006.12:5545180:T:G p.(Ala302=) NC_000006.12:5545180:T:G Identity +NM_000540.3:c.3348T>C NP_000531.2:p.Ala1116= NC_000019.10:38467778:T:C p.(Ala1116=) NC_000019.10:38467778:T:C p.(Ala1116=) NC_000019.10:38467778:T:C Identity +NM_000199.5:c.241C>T NP_000190.1:p.Leu81= NC_000017.11:80217039:G:A p.(Leu81=) NC_000017.11:80217039:G:A p.(Leu81=) NC_000017.11:80217039:G:A Identity +NM_000263.4:c.984C>T NP_000254.2:p.Ala328= NC_000017.11:42541168:C:T p.(Ala328=) NC_000017.11:42541168:C:T p.(Ala328=) NC_000017.11:42541168:C:T Identity +NM_000268.4:c.1242C>T NP_000259.1:p.Ala414= NC_000022.11:29673387:C:T p.(Ala414=) NC_000022.11:29673387:C:T p.(Ala414=) NC_000022.11:29673387:C:T Identity +NM_001079812.3:c.999G>C NP_001073280.1:p.Gly333= NC_000005.10:141578532:C:G p.(Gly333=) NC_000005.10:141578532:C:G p.(Gly333=) NC_000005.10:141578532:C:G Identity +NM_001407958.1:c.1812T>C NP_001394887.1:p.Ser604= NC_000017.11:43093382:A:G p.(Ser604=) NC_000017.11:43093382:A:G p.(Ser604=) NC_000017.11:43093382:A:G Identity +NM_001185039.2:c.985C>T NP_001171968.1:p.Leu329= NC_000017.11:75951422:G:A p.(Leu329=) NC_000017.11:75951422:G:A p.(Leu329=) NC_000017.11:75951422:G:A Identity +NM_006019.4:c.381C>T NP_006010.2:p.Leu127= NC_000011.10:68042826:C:T p.(Leu127=) NC_000011.10:68042826:C:T p.(Leu127=) NC_000011.10:68042826:C:T Identity +NM_001363147.1:c.252A>G NP_001350076.1:p.Arg84= NC_000005.10:71596334:A:G p.(Arg84=) NC_000005.10:71596334:A:G p.(Arg84=) NC_000005.10:71596334:A:G Identity +NM_006361.6:c.150C>T NP_006352.2:p.Pro50= NC_000017.11:48728443:G:A p.(Pro50=) NC_000017.11:48728443:G:A p.(Pro50=) NC_000017.11:48728443:G:A Identity +NM_001080124.2:c.1116A>C NP_001073593.1:p.Ser372= NC_000002.12:201285173:A:C p.(Ser372=) NC_000002.12:201285173:A:C p.(Ser372=) NC_000002.12:201285173:A:C Identity +NM_001330166.2:c.165A>G NP_001317095.1:p.Thr55= NC_000017.11:28547836:T:C p.(Thr55=) NC_000017.11:28547836:T:C p.(Thr55=) NC_000017.11:28547836:T:C Identity +NM_001164507.2:c.393A>G NP_001157979.2:p.Gln131= NC_000002.12:151725461:T:C p.(Gln131=) NC_000002.12:151725461:T:C p.(Gln131=) NC_000002.12:151725461:T:C Identity +NM_000352.6:c.1911G>A NP_000343.2:p.Lys637= NC_000011.10:17428576:C:T p.(Lys637=) NC_000011.10:17428576:C:T p.(Lys637=) NC_000011.10:17428576:C:T Identity +NM_000059.4:c.6156A>T NP_000050.3:p.Ser2052= NC_000013.11:32340510:A:T p.(Ser2052=) NC_000013.11:32340510:A:T p.(Ser2052=) NC_000013.11:32340510:A:T Identity +NM_001372051.1:c.1086G>C NP_001358980.1:p.Gly362= NC_000002.12:201285098:G:C p.(Gly362=) NC_000002.12:201285098:G:C p.(Gly362=) NC_000002.12:201285098:G:C Identity +NM_001164507.2:c.10743C>T NP_001157979.2:p.Ile3581= NC_000002.12:151619579:G:A p.(Ile3581=) NC_000002.12:151619579:G:A p.(Ile3581=) NC_000002.12:151619579:G:A Identity +NM_000593.6:c.1746T>C NP_000584.3:p.Ala582= NC_000006.12:32847669:A:G p.(Ala582=) NC_000006.12:32847669:A:G p.(Ala582=) NC_000006.12:32847669:A:G Identity +NM_001844.5:c.1509C>T NP_001835.3:p.Ile503= NC_000012.12:47986353:G:A p.(Ile503=) NC_000012.12:47986353:G:A p.(Ile503=) NC_000012.12:47986353:G:A Identity +NM_000352.6:c.2751G>A NP_000343.2:p.Gln917= NC_000011.10:17408460:C:T p.(Gln917=) NC_000011.10:17408460:C:T p.(Gln917=) NC_000011.10:17408460:C:T Identity +NM_000108.5:c.444T>G NP_000099.2:p.Val148= NC_000007.14:107905365:T:G p.(Val148=) NC_000007.14:107905365:T:G p.(Val148=) NC_000007.14:107905365:T:G Identity +NM_015243.3:c.2016C>T NP_056058.2:p.Asn672= NC_000008.11:99156550:C:T p.(Asn672=) NC_000008.11:99156550:C:T p.(Asn672=) NC_000008.11:99156550:C:T Identity +NM_001308133.2:c.1947G>A NP_001295062.1:p.Lys649= NC_000014.9:45170610:G:A p.(Lys649=) NC_000014.9:45170610:G:A p.(Lys649=) NC_000014.9:45170610:G:A Identity +NM_001130955.2:c.2022C>T NP_001124427.2:p.Tyr674= NC_000019.10:7463929:C:T p.(Tyr674=) NC_000019.10:7463929:C:T p.(Tyr674=) NC_000019.10:7463929:C:T Identity +NM_013339.4:c.246A>C NP_037471.2:p.Leu82= NC_000001.11:63402331:A:C p.(Leu82=) NC_000001.11:63402331:A:C p.(Leu82=) NC_000001.11:63402331:A:C Identity +NM_001256849.1:c.828G>A NP_001243778.1:p.Arg276= NC_000019.10:50402522:G:A p.(Arg276=) NC_000019.10:50402522:G:A p.(Arg276=) NC_000019.10:50402522:G:A Identity +NM_001346897.2:c.1230G>A NP_001333826.1:p.Glu410= NC_000007.14:55160204:G:A p.(Glu410=) NC_000007.14:55160204:G:A p.(Glu410=) NC_000007.14:55160204:G:A Identity +NM_022726.4:c.591A>G NP_073563.1:p.Ser197= NC_000006.12:79919497:T:C p.(Ser197=) NC_000006.12:79919497:T:C p.(Ser197=) NC_000006.12:79919497:T:C Identity +NM_000168.6:c.1536G>A NP_000159.3:p.Glu512= NC_000007.14:41978709:C:T p.(Glu512=) NC_000007.14:41978709:C:T p.(Glu512=) NC_000007.14:41978709:C:T Identity +NM_000069.3:c.5583C>T NP_000060.2:p.His1861= NC_000001.11:201039869:G:A p.(His1861=) NC_000001.11:201039869:G:A p.(His1861=) NC_000001.11:201039869:G:A Identity +NM_000222.3:c.823T>C NP_000213.1:p.Leu275= NC_000004.12:54703789:T:C p.(Leu275=) NC_000004.12:54703789:T:C p.(Leu275=) NC_000004.12:54703789:T:C Identity +NM_004523.4:c.246C>T NP_004514.2:p.Tyr82= NC_000010.11:92606653:C:T p.(Tyr82=) NC_000010.11:92606653:C:T p.(Tyr82=) NC_000010.11:92606653:C:T Identity +NM_000329.3:c.1581T>C NP_000320.1:p.His527= NC_000001.11:68429796:A:G p.(His527=) NC_000001.11:68429796:A:G p.(His527=) NC_000001.11:68429796:A:G Identity +NM_000920.4:c.2637C>T NP_000911.2:p.His879= NC_000011.10:66850300:G:A p.(His879=) NC_000011.10:66850300:G:A p.(His879=) NC_000011.10:66850300:G:A Identity +NM_000057.4:c.1314T>C NP_000048.1:p.Pro438= NC_000015.10:90760686:T:C p.(Pro438=) NC_000015.10:90760686:T:C p.(Pro438=) NC_000015.10:90760686:T:C Identity +NM_001142805.2:c.903G>T NP_001136277.1:p.Gly301= NC_000023.11:153693165:G:T p.(Gly301=) NC_000023.11:153693165:G:T p.(Gly301=) NC_000023.11:153693165:G:T Identity +NM_000243.3:c.849G>A NP_000234.1:p.Pro283= NC_000016.10:3254218:C:T p.(Pro283=) NC_000016.10:3254218:C:T p.(Pro283=) NC_000016.10:3254218:C:T Identity +NM_001277961.3:c.2160C>T NP_001264890.1:p.Ser720= NC_000011.10:4091581:C:T p.(Ser720=) NC_000011.10:4091581:C:T p.(Ser720=) NC_000011.10:4091581:C:T Identity +NM_001163817.2:c.735C>A NP_001157289.1:p.Ile245= NC_000011.10:71438974:G:T p.(Ile245=) NC_000011.10:71438974:G:T p.(Ile245=) NC_000011.10:71438974:G:T Identity +NM_001168407.2:c.1149C>A NP_001161879.1:p.Ile383= NC_000006.12:72252788:C:A p.(Ile383=) NC_000006.12:72252788:C:A p.(Ile383=) NC_000006.12:72252788:C:A Identity +NM_001164507.2:c.4362C>T NP_001157979.2:p.Ser1454= NC_000002.12:151671166:G:A p.(Ser1454=) NC_000002.12:151671166:G:A p.(Ser1454=) NC_000002.12:151671166:G:A Identity +NM_000260.4:c.6138C>T NP_000251.3:p.Phe2046= NC_000011.10:77211237:C:T p.(Phe2046=) NC_000011.10:77211237:C:T p.(Phe2046=) NC_000011.10:77211237:C:T Identity +NM_152594.3:c.279G>A NP_689807.1:p.Lys93= NC_000015.10:38322311:G:A p.(Lys93=) NC_000015.10:38322311:G:A p.(Lys93=) NC_000015.10:38322311:G:A Identity +NM_001031710.3:c.1425G>C NP_001026880.2:p.Gly475= NC_000007.14:23172992:G:C p.(Gly475=) NC_000007.14:23172992:G:C p.(Gly475=) NC_000007.14:23172992:G:C Identity +NM_001164507.2:c.7248T>C NP_001157979.2:p.Leu2416= NC_000002.12:151650358:A:G p.(Leu2416=) NC_000002.12:151650358:A:G p.(Leu2416=) NC_000002.12:151650358:A:G Identity +NM_000445.5:c.1917C>G NP_000436.2:p.Leu639= NC_000008.11:143932540:G:C p.(Leu639=) NC_000008.11:143932540:G:C p.(Leu639=) NC_000008.11:143932540:G:C Identity +NM_000109.4:c.5214T>C NP_000100.3:p.Gly1738= NC_000023.11:32362874:A:G p.(Gly1738=) NC_000023.11:32362874:A:G p.(Gly1738=) NC_000023.11:32362874:A:G Identity +NM_000126.4:c.283T>C NP_000117.1:p.Leu95= NC_000015.10:76292498:A:G p.(Leu95=) NC_000015.10:76292498:A:G p.(Leu95=) NC_000015.10:76292498:A:G Identity +NM_001193300.2:c.792G>A NP_001180229.1:p.Arg264= NC_000001.11:156161010:G:A p.(Arg264=) NC_000001.11:156161010:G:A p.(Arg264=) NC_000001.11:156161010:G:A Identity +NM_001164507.2:c.12349C>T NP_001157979.2:p.Leu4117= NC_000002.12:151608657:G:A p.(Leu4117=) NC_000002.12:151608657:G:A p.(Leu4117=) NC_000002.12:151608657:G:A Identity +NM_001178007.2:c.135T>C NP_001171478.1:p.His45= NC_000004.12:122742026:T:C p.(His45=) NC_000004.12:122742026:T:C p.(His45=) NC_000004.12:122742026:T:C Identity +NM_001378923.1:c.2127C>T NP_001365852.1:p.Asp709= NC_000009.12:35805899:C:T p.(Asp709=) NC_000009.12:35805899:C:T p.(Asp709=) NC_000009.12:35805899:C:T Identity +NM_000411.8:c.1467A>T NP_000402.3:p.Thr489= NC_000021.9:36767269:T:A p.(Thr489=) NC_000021.9:36767269:T:A p.(Thr489=) NC_000021.9:36767269:T:A Identity +NM_001081640.2:c.837A>G NP_001075109.1:p.Ala279= NC_000008.11:47943337:T:C p.(Ala279=) NC_000008.11:47943337:T:C p.(Ala279=) NC_000008.11:47943337:T:C Identity +NM_001365536.1:c.1815C>T NP_001352465.1:p.Ala605= NC_000002.12:166284611:G:A p.(Ala605=) NC_000002.12:166284611:G:A p.(Ala605=) NC_000002.12:166284611:G:A Identity +NM_001378454.1:c.9645A>G NP_001365383.1:p.Ser3215= NC_000002.12:73519879:A:G p.(Ser3215=) NC_000002.12:73519879:A:G p.(Ser3215=) NC_000002.12:73519879:A:G Identity +NM_001029883.3:c.1812G>A NP_001025054.1:p.Val604= NC_000002.12:29072449:C:T p.(Val604=) NC_000002.12:29072449:C:T p.(Val604=) NC_000002.12:29072449:C:T Identity +NM_001042594.2:c.1215A>G NP_001036059.1:p.Val405= NC_000007.14:124827291:T:C p.(Val405=) NC_000007.14:124827291:T:C p.(Val405=) NC_000007.14:124827291:T:C Identity +NM_001164716.1:c.2199T>C NP_001158188.1:p.Tyr733= NC_000011.10:64746724:A:G p.(Tyr733=) NC_000011.10:64746724:A:G p.(Tyr733=) NC_000011.10:64746724:A:G Identity +NM_005045.4:c.8970C>T NP_005036.2:p.Leu2990= NC_000007.14:103496748:G:A p.(Leu2990=) NC_000007.14:103496748:G:A p.(Leu2990=) NC_000007.14:103496748:G:A Identity +NM_000287.4:c.444G>A NP_000278.3:p.Leu148= NC_000006.12:42978706:C:T p.(Leu148=) NC_000006.12:42978706:C:T p.(Leu148=) NC_000006.12:42978706:C:T Identity +NM_001365536.1:c.5256G>T NP_001352465.1:p.Val1752= NC_000002.12:166199382:C:A p.(Val1752=) NC_000002.12:166199382:C:A p.(Val1752=) NC_000002.12:166199382:C:A Identity +NM_000359.3:c.1539C>T NP_000350.1:p.Phe513= NC_000014.9:24255469:G:A p.(Phe513=) NC_000014.9:24255469:G:A p.(Phe513=) NC_000014.9:24255469:G:A Identity +NM_000112.4:c.732T>C NP_000103.2:p.Val244= NC_000005.10:149980324:T:C p.(Val244=) NC_000005.10:149980324:T:C p.(Val244=) NC_000005.10:149980324:T:C Identity +NM_015180.6:c.18873G>A NP_055995.4:p.Gln6291= NC_000014.9:64212821:G:A p.(Gln6291=) NC_000014.9:64212821:G:A p.(Gln6291=) NC_000014.9:64212821:G:A Identity +NM_014244.5:c.1068C>T NP_055059.2:p.His356= NC_000005.10:179158786:G:A p.(His356=) NC_000005.10:179158786:G:A p.(His356=) NC_000005.10:179158786:G:A Identity +NM_017617.5:c.6013C>T NP_060087.3:p.Leu2005= NC_000009.12:136499180:G:A p.(Leu2005=) NC_000009.12:136499180:G:A p.(Leu2005=) NC_000009.12:136499180:G:A Identity +NM_000920.4:c.1971C>T NP_000911.2:p.Asn657= NC_000011.10:66851800:G:A p.(Asn657=) NC_000011.10:66851800:G:A p.(Asn657=) NC_000011.10:66851800:G:A Identity +NM_001164507.2:c.4968C>T NP_001157979.2:p.Tyr1656= NC_000002.12:151666152:G:A p.(Tyr1656=) NC_000002.12:151666152:G:A p.(Tyr1656=) NC_000002.12:151666152:G:A Identity +NM_001164507.2:c.13557T>C NP_001157979.2:p.Val4519= NC_000002.12:151600672:A:G p.(Val4519=) NC_000002.12:151600672:A:G p.(Val4519=) NC_000002.12:151600672:A:G Identity +NM_001185039.2:c.240G>A NP_001171968.1:p.Glu80= NC_000017.11:75960290:C:T p.(Glu80=) NC_000017.11:75960290:C:T p.(Glu80=) NC_000017.11:75960290:C:T Identity +NM_022132.5:c.714C>T NP_071415.1:p.Thr238= NC_000005.10:71626728:C:T p.(Thr238=) NC_000005.10:71626728:C:T p.(Thr238=) NC_000005.10:71626728:C:T Identity +NM_000059.4:c.3603C>T NP_000050.3:p.Asn1201= NC_000013.11:32337957:C:T p.(Asn1201=) NC_000013.11:32337957:C:T p.(Asn1201=) NC_000013.11:32337957:C:T Identity +NM_000038.6:c.3870T>C NP_000029.2:p.Asn1290= NC_000005.10:112839463:T:C p.(Asn1290=) NC_000005.10:112839463:T:C p.(Asn1290=) NC_000005.10:112839463:T:C Identity +NM_001184751.2:c.1533C>T NP_001171680.1:p.Thr511= NC_000011.10:46705256:C:T p.(Thr511=) NC_000011.10:46705256:C:T p.(Thr511=) NC_000011.10:46705256:C:T Identity +NM_001185039.2:c.1326C>T NP_001171968.1:p.Pro442= NC_000017.11:75949755:G:A p.(Pro442=) NC_000017.11:75949755:G:A p.(Pro442=) NC_000017.11:75949755:G:A Identity +NM_000260.4:c.1125C>T NP_000251.3:p.Leu375= NC_000011.10:77160206:C:T p.(Leu375=) NC_000011.10:77160206:C:T p.(Leu375=) NC_000011.10:77160206:C:T Identity +NM_000103.4:c.174C>T NP_000094.2:p.Pro58= NC_000015.10:51236980:G:A p.(Pro58=) NC_000015.10:51236980:G:A p.(Pro58=) NC_000015.10:51236980:G:A Identity +NM_001112741.2:c.1149C>T NP_001106212.1:p.His383= NC_000011.10:17772242:C:T p.(His383=) NC_000011.10:17772242:C:T p.(His383=) NC_000011.10:17772242:C:T Identity +NM_000232.5:c.933C>T NP_000223.1:p.Asp311= NC_000004.12:52023980:G:A p.(Asp311=) NC_000004.12:52023980:G:A p.(Asp311=) NC_000004.12:52023980:G:A Identity +NM_001276504.2:c.69A>T NP_001263433.1:p.Ala23= NC_000011.10:112088882:A:T p.(Ala23=) NC_000011.10:112088882:A:T p.(Ala23=) NC_000011.10:112088882:A:T Identity +NM_025216.3:c.1251G>A NP_079492.2:p.Lys417= NC_000002.12:218893267:G:A p.(Lys417=) NC_000002.12:218893267:G:A p.(Lys417=) NC_000002.12:218893267:G:A Identity +NM_001081676.2:c.777C>T NP_001075145.1:p.Ser259= NC_000002.12:165162745:G:A p.(Ser259=) NC_000002.12:165162745:G:A p.(Ser259=) NC_000002.12:165162745:G:A Identity +NM_001317924.2:c.1767C>T NP_001304853.1:p.Ala589= NC_000004.12:39232265:C:T p.(Ala589=) NC_000004.12:39232265:C:T p.(Ala589=) NC_000004.12:39232265:C:T Identity +NM_005609.4:c.327T>C NP_005600.1:p.Cys109= NC_000011.10:64758620:A:G p.(Cys109=) NC_000011.10:64758620:A:G p.(Cys109=) NC_000011.10:64758620:A:G Identity +NM_001173408.2:c.1821C>T NP_001166879.1:p.His607= NC_000002.12:219567288:G:A p.(His607=) NC_000002.12:219567288:G:A p.(His607=) NC_000002.12:219567288:G:A Identity +NM_001386677.1:c.36C>G NP_001373606.1:p.Ala12= NC_000011.10:108121641:C:G p.(Ala12=) NC_000011.10:108121641:C:G p.(Ala12=) NC_000011.10:108121641:C:G Identity +NM_000263.4:c.1542T>C NP_000254.2:p.Arg514= NC_000017.11:42543547:T:C p.(Arg514=) NC_000017.11:42543547:T:C p.(Arg514=) NC_000017.11:42543547:T:C Identity +NM_001036.6:c.6090C>G NP_001027.3:p.Val2030= NC_000015.10:33696446:C:G p.(Val2030=) NC_000015.10:33696446:C:G p.(Val2030=) NC_000015.10:33696446:C:G Identity +NM_005732.4:c.381C>G NP_005723.2:p.Val127= NC_000005.10:132579331:C:G p.(Val127=) NC_000005.10:132579331:C:G p.(Val127=) NC_000005.10:132579331:C:G Identity +NM_015192.4:c.1740C>T NP_056007.1:p.Thr580= NC_000020.11:8727369:C:T p.(Thr580=) NC_000020.11:8727369:C:T p.(Thr580=) NC_000020.11:8727369:C:T Identity +NM_001243925.2:c.744G>A NP_001230854.1:p.Gln248= NC_000003.12:50646178:G:A p.(Gln248=) NC_000003.12:50646178:G:A p.(Gln248=) NC_000003.12:50646178:G:A Identity +NM_001353765.2:c.762C>A NP_001340694.1:p.Ile254= NC_000002.12:29197648:G:T p.(Ile254=) NC_000002.12:29197648:G:T p.(Ile254=) NC_000002.12:29197648:G:T Identity +NM_001144769.5:c.14991C>T NP_001138241.1:p.Thr4997= NC_000006.12:56482736:G:A p.(Thr4997=) NC_000006.12:56482736:G:A p.(Thr4997=) NC_000006.12:56482736:G:A Identity +NM_001378454.1:c.12423A>G NP_001365383.1:p.Glu4141= NC_000002.12:73608534:A:G p.(Glu4141=) NC_000002.12:73608534:A:G p.(Glu4141=) NC_000002.12:73608534:A:G Identity +NM_000639.3:c.537T>C NP_000630.1:p.Gly179= NC_000001.11:172665706:T:C p.(Gly179=) NC_000001.11:172665706:T:C p.(Gly179=) NC_000001.11:172665706:T:C Identity +NM_001308258.2:c.1122G>A NP_001295187.1:p.Leu374= NC_000003.12:149157456:G:A p.(Leu374=) NC_000003.12:149157456:G:A p.(Leu374=) NC_000003.12:149157456:G:A Identity +NM_000520.6:c.96C>T NP_000511.2:p.Thr32= NC_000015.10:72375876:G:A p.(Thr32=) NC_000015.10:72375876:G:A p.(Thr32=) NC_000015.10:72375876:G:A Identity +NM_001278055.2:c.2329T>C NP_001264984.1:p.Leu777= NC_000013.11:23341105:A:G p.(Leu777=) NC_000013.11:23341105:A:G p.(Leu777=) NC_000013.11:23341105:A:G Identity +NM_001164507.2:c.13458C>G NP_001157979.2:p.Ser4486= NC_000002.12:151601918:G:C p.(Ser4486=) NC_000002.12:151601918:G:C p.(Ser4486=) NC_000002.12:151601918:G:C Identity +NM_015702.3:c.207T>C NP_056517.1:p.Asp69= NC_000002.12:149579595:A:G p.(Asp69=) NC_000002.12:149579595:A:G p.(Asp69=) NC_000002.12:149579595:A:G Identity +NM_001081640.2:c.504T>C NP_001075109.1:p.Asp168= NC_000008.11:47954341:A:G p.(Asp168=) NC_000008.11:47954341:A:G p.(Asp168=) NC_000008.11:47954341:A:G Identity +NM_000495.5:c.2982A>G NP_000486.1:p.Gly994= NC_000023.11:108624299:A:G p.(Gly994=) NC_000023.11:108624299:A:G p.(Gly994=) NC_000023.11:108624299:A:G Identity +NM_005911.6:c.324A>T NP_005902.1:p.Val108= NC_000002.12:85541663:A:T p.(Val108=) NC_000002.12:85541663:A:T p.(Val108=) NC_000002.12:85541663:A:T Identity +NM_004260.4:c.2649G>A NP_004251.4:p.Glu883= NC_000008.11:144512952:C:T p.(Glu883=) NC_000008.11:144512952:C:T p.(Glu883=) NC_000008.11:144512952:C:T Identity +NM_000246.4:c.1878G>A NP_000237.2:p.Glu626= NC_000016.10:10907369:G:A p.(Glu626=) NC_000016.10:10907369:G:A p.(Glu626=) NC_000016.10:10907369:G:A Identity +NM_001001890.3:c.1155C>T NP_001001890.1:p.Gly385= NC_000021.9:34792341:G:A p.(Gly385=) NC_000021.9:34792341:G:A p.(Gly385=) NC_000021.9:34792341:G:A Identity +NM_001031714.4:c.846G>A NP_001026884.3:p.Val282= NC_000014.9:104706911:G:A p.(Val282=) NC_000014.9:104706911:G:A p.(Val282=) NC_000014.9:104706911:G:A Identity +NM_000462.5:c.468T>G NP_000453.2:p.Val156= NC_000015.10:25371714:A:C p.(Val156=) NC_000015.10:25371714:A:C p.(Val156=) NC_000015.10:25371714:A:C Identity +NM_000391.4:c.891G>T NP_000382.3:p.Arg297= NC_000011.10:6616498:C:A p.(Arg297=) NC_000011.10:6616498:C:A p.(Arg297=) NC_000011.10:6616498:C:A Identity +NM_001367258.1:c.522G>A NP_001354187.1:p.Arg174= NC_000005.10:139477395:C:T p.(Arg174=) NC_000005.10:139477395:C:T p.(Arg174=) NC_000005.10:139477395:C:T Identity +NM_032806.6:c.1296A>G NP_116195.2:p.Pro432= NC_000003.12:43080135:T:C p.(Pro432=) NC_000003.12:43080135:T:C p.(Pro432=) NC_000003.12:43080135:T:C Identity +NM_001318193.2:c.393G>A NP_001305122.2:p.Leu131= NC_000016.10:2043687:C:T p.(Leu131=) NC_000016.10:2043687:C:T p.(Leu131=) NC_000016.10:2043687:C:T Identity +NM_000260.4:c.5316G>A NP_000251.3:p.Leu1772= NC_000011.10:77203206:G:A p.(Leu1772=) NC_000011.10:77203206:G:A p.(Leu1772=) NC_000011.10:77203206:G:A Identity +NM_000249.4:c.369G>A NP_000240.1:p.Lys123= NC_000003.12:37004462:G:A p.(Lys123=) NC_000003.12:37004462:G:A p.(Lys123=) NC_000003.12:37004462:G:A Identity +NM_001291902.2:c.1767C>T NP_001278831.1:p.Ile589= NC_000011.10:68426059:C:T p.(Ile589=) NC_000011.10:68426059:C:T p.(Ile589=) NC_000011.10:68426059:C:T Identity +NM_000059.4:c.2283T>C NP_000050.3:p.Tyr761= NC_000013.11:32336637:T:C p.(Tyr761=) NC_000013.11:32336637:T:C p.(Tyr761=) NC_000013.11:32336637:T:C Identity +NM_001206855.3:c.1044C>G NP_001193784.1:p.Ala348= NC_000007.14:100627954:G:C p.(Ala348=) NC_000007.14:100627954:G:C p.(Ala348=) NC_000007.14:100627954:G:C Identity +NM_000038.6:c.2085G>A NP_000029.2:p.Gln695= NC_000005.10:112837678:G:A p.(Gln695=) NC_000005.10:112837678:G:A p.(Gln695=) NC_000005.10:112837678:G:A Identity +NM_001363227.2:c.411C>G NP_001350156.1:p.Leu137= NC_000008.11:43158961:C:G p.(Leu137=) NC_000008.11:43158961:C:G p.(Leu137=) NC_000008.11:43158961:C:G Identity +NM_005055.5:c.1131G>A NP_005046.2:p.Leu377= NC_000011.10:47438766:C:T p.(Leu377=) NC_000011.10:47438766:C:T p.(Leu377=) NC_000011.10:47438766:C:T Identity +NM_001376472.1:c.927G>A NP_001363401.1:p.Leu309= NC_000022.11:50064165:C:T p.(Leu309=) NC_000022.11:50064165:C:T p.(Leu309=) NC_000022.11:50064165:C:T Identity +NM_000719.7:c.30T>C NP_000710.5:p.Ile10= NC_000012.12:2053591:T:C p.(Ile10=) NC_000012.12:2053591:T:C p.(Ile10=) NC_000012.12:2053591:T:C Identity +NM_000243.3:c.813G>A NP_000234.1:p.Leu271= NC_000016.10:3254254:C:T p.(Leu271=) NC_000016.10:3254254:C:T p.(Leu271=) NC_000016.10:3254254:C:T Identity +NM_000080.4:c.828C>T NP_000071.1:p.Ser276= NC_000017.11:4900881:G:A p.(Ser276=) NC_000017.11:4900881:G:A p.(Ser276=) NC_000017.11:4900881:G:A Identity +NM_001164507.2:c.9729A>G NP_001157979.2:p.Leu3243= NC_000002.12:151629640:T:C p.(Leu3243=) NC_000002.12:151629640:T:C p.(Leu3243=) NC_000002.12:151629640:T:C Identity +NM_001330609.2:c.897G>T NP_001317538.1:p.Ser299= NC_000008.11:125063588:C:A p.(Ser299=) NC_000008.11:125063588:C:A p.(Ser299=) NC_000008.11:125063588:C:A Identity +NM_001257281.2:c.786T>C NP_001244210.1:p.Phe262= NC_000002.12:232136554:T:C p.(Phe262=) NC_000002.12:232136554:T:C p.(Phe262=) NC_000002.12:232136554:T:C Identity +NM_000228.3:c.672G>T NP_000219.2:p.Leu224= NC_000001.11:209632732:C:A p.(Leu224=) NC_000001.11:209632732:C:A p.(Leu224=) NC_000001.11:209632732:C:A Identity +NM_001363813.1:c.459C>T NP_001350742.1:p.Thr153= NC_000017.11:65558161:G:A p.(Thr153=) NC_000017.11:65558161:G:A p.(Thr153=) NC_000017.11:65558161:G:A Identity +NM_000203.5:c.597G>T NP_000194.2:p.Leu199= NC_000004.12:1001685:G:T p.(Leu199=) NC_000004.12:1001685:G:T p.(Leu199=) NC_000004.12:1001685:G:T Identity +NM_001199138.2:c.999T>C NP_001186067.1:p.Asn333= NC_000002.12:32250864:A:G p.(Asn333=) NC_000002.12:32250864:A:G p.(Asn333=) NC_000002.12:32250864:A:G Identity +NM_001164507.2:c.3210G>A NP_001157979.2:p.Ala1070= NC_000002.12:151679765:C:T p.(Ala1070=) NC_000002.12:151679765:C:T p.(Ala1070=) NC_000002.12:151679765:C:T Identity +NM_001142763.2:c.3642C>T NP_001136235.1:p.Leu1214= NC_000010.11:53866731:G:A p.(Leu1214=) NC_000010.11:53866731:G:A p.(Leu1214=) NC_000010.11:53866731:G:A Identity +NM_000228.3:c.2250G>A NP_000219.2:p.Glu750= NC_000001.11:209623612:C:T p.(Glu750=) NC_000001.11:209623612:C:T p.(Glu750=) NC_000001.11:209623612:C:T Identity +NM_005911.6:c.939G>A NP_005902.1:p.Arg313= NC_000002.12:85542734:G:A p.(Arg313=) NC_000002.12:85542734:G:A p.(Arg313=) NC_000002.12:85542734:G:A Identity +NM_014639.4:c.375A>G NP_055454.1:p.Leu125= NC_000005.10:95541331:T:C p.(Leu125=) NC_000005.10:95541331:T:C p.(Leu125=) NC_000005.10:95541331:T:C Identity +NM_001316690.1:c.1626A>G NP_001303619.1:p.Pro542= NC_000008.11:60743057:A:G p.(Pro542=) NC_000008.11:60743057:A:G p.(Pro542=) NC_000008.11:60743057:A:G Identity +NM_001805.4:c.603C>T NP_001796.2:p.Asn201= NC_000014.9:23117729:G:A p.(Asn201=) NC_000014.9:23117729:G:A p.(Asn201=) NC_000014.9:23117729:G:A Identity +NM_000112.4:c.105A>G NP_000103.2:p.Ser35= NC_000005.10:149977756:A:G p.(Ser35=) NC_000005.10:149977756:A:G p.(Ser35=) NC_000005.10:149977756:A:G Identity +NM_000051.4:c.1848T>C NP_000042.3:p.Thr616= NC_000011.10:108252861:T:C p.(Thr616=) NC_000011.10:108252861:T:C p.(Thr616=) NC_000011.10:108252861:T:C Identity +NM_005477.3:c.2784G>A NP_005468.1:p.Pro928= NC_000015.10:73323308:C:T p.(Pro928=) NC_000015.10:73323308:C:T p.(Pro928=) NC_000015.10:73323308:C:T Identity +NM_001018037.2:c.1170A>G NP_001018047.1:p.Glu390= NC_000009.12:77225933:A:G p.(Glu390=) NC_000009.12:77225933:A:G p.(Glu390=) NC_000009.12:77225933:A:G Identity +NM_001364440.2:c.942C>T NP_001351369.1:p.Ser314= NC_000005.10:7885738:C:T p.(Ser314=) NC_000005.10:7885738:C:T p.(Ser314=) NC_000005.10:7885738:C:T Identity +NM_004304.5:c.75C>A NP_004295.2:p.Thr25= NC_000002.12:29920584:G:T p.(Thr25=) NC_000002.12:29920584:G:T p.(Thr25=) NC_000002.12:29920584:G:T Identity +NM_001256213.2:c.2254C>T NP_001243142.1:p.Leu752= NC_000019.10:41975670:G:A p.(Leu752=) NC_000019.10:41975670:G:A p.(Leu752=) NC_000019.10:41975670:G:A Identity +NM_001031714.4:c.684C>T NP_001026884.3:p.Asp228= NC_000014.9:104703931:C:T p.(Asp228=) NC_000014.9:104703931:C:T p.(Asp228=) NC_000014.9:104703931:C:T Identity +NM_001271620.2:c.3159C>T NP_001258549.1:p.Ala1053= NC_000016.10:49635812:G:A p.(Ala1053=) NC_000016.10:49635812:G:A p.(Ala1053=) NC_000016.10:49635812:G:A Identity +NM_000462.5:c.279C>T NP_000453.2:p.Ser93= NC_000015.10:25375555:G:A p.(Ser93=) NC_000015.10:25375555:G:A p.(Ser93=) NC_000015.10:25375555:G:A Identity +NM_002907.4:c.780C>T NP_002898.2:p.His260= NC_000012.12:21477889:G:A p.(His260=) NC_000012.12:21477889:G:A p.(His260=) NC_000012.12:21477889:G:A Identity +NM_005373.3:c.972C>T NP_005364.1:p.Pro324= NC_000001.11:43340504:C:T p.(Pro324=) NC_000001.11:43340504:C:T p.(Pro324=) NC_000001.11:43340504:C:T Identity +NM_000016.6:c.171A>G NP_000007.1:p.Arg57= NC_000001.11:75732695:A:G p.(Arg57=) NC_000001.11:75732695:A:G p.(Arg57=) NC_000001.11:75732695:A:G Identity +NM_001349370.3:c.4990C>A NP_001336299.1:p.Arg1664= NC_000003.12:47097974:G:T p.(Arg1664=) NC_000003.12:47097974:G:T p.(Arg1664=) NC_000003.12:47097974:G:T Identity +NM_000203.5:c.366G>A NP_000194.2:p.Arg122= NC_000004.12:1000677:G:A p.(Arg122=) NC_000004.12:1000677:G:A p.(Arg122=) NC_000004.12:1000677:G:A Identity +NM_000052.7:c.4305C>T NP_000043.4:p.Ser1435= NC_000023.11:78046371:C:T p.(Ser1435=) NC_000023.11:78046371:C:T p.(Ser1435=) NC_000023.11:78046371:C:T Identity +NM_000094.4:c.3936C>T NP_000085.1:p.Arg1312= NC_000003.12:48585074:G:A p.(Arg1312=) NC_000003.12:48585074:G:A p.(Arg1312=) NC_000003.12:48585074:G:A Identity +NM_000353.3:c.1239G>A NP_000344.1:p.Pro413= NC_000016.10:71568269:C:T p.(Pro413=) NC_000016.10:71568269:C:T p.(Pro413=) NC_000016.10:71568269:C:T Identity +NM_005732.4:c.2880C>T NP_005723.2:p.Asp960= NC_000005.10:132609166:C:T p.(Asp960=) NC_000005.10:132609166:C:T p.(Asp960=) NC_000005.10:132609166:C:T Identity +NM_020184.4:c.1773C>T NP_064569.3:p.Asp591= NC_000002.12:96799147:C:T p.(Asp591=) NC_000002.12:96799147:C:T p.(Asp591=) NC_000002.12:96799147:C:T Identity +NM_001378454.1:c.4701C>T NP_001365383.1:p.Thr1567= NC_000002.12:73451227:C:T p.(Thr1567=) NC_000002.12:73451227:C:T p.(Thr1567=) NC_000002.12:73451227:C:T Identity +NM_199242.3:c.2223G>A NP_954712.1:p.Leu741= NC_000017.11:75834399:C:T p.(Leu741=) NC_000017.11:75834399:C:T p.(Leu741=) NC_000017.11:75834399:C:T Identity +NM_000548.5:c.1452G>A NP_000539.2:p.Leu484= NC_000016.10:2064279:G:A p.(Leu484=) NC_000016.10:2064279:G:A p.(Leu484=) NC_000016.10:2064279:G:A Identity +NM_000411.8:c.75T>C NP_000402.3:p.Thr25= NC_000021.9:36937369:A:G p.(Thr25=) NC_000021.9:36937369:A:G p.(Thr25=) NC_000021.9:36937369:A:G Identity +NM_000030.3:c.810C>T NP_000021.1:p.Tyr270= NC_000002.12:240875967:C:T p.(Tyr270=) NC_000002.12:240875967:C:T p.(Tyr270=) NC_000002.12:240875967:C:T Identity +NM_000498.3:c.654T>G NP_000489.3:p.Ser218= NC_000008.11:142914849:A:C p.(Ser218=) NC_000008.11:142914849:A:C p.(Ser218=) NC_000008.11:142914849:A:C Identity +NM_000391.4:c.549G>A NP_000382.3:p.Arg183= NC_000011.10:6617112:C:T p.(Arg183=) NC_000011.10:6617112:C:T p.(Arg183=) NC_000011.10:6617112:C:T Identity +NM_001193300.2:c.1938C>T NP_001180229.1:p.Thr646= NC_000001.11:156176648:C:T p.(Thr646=) NC_000001.11:156176648:C:T p.(Thr646=) NC_000001.11:156176648:C:T Identity +NM_001177316.2:c.1416G>A NP_001170787.2:p.Pro472= NC_000009.12:137236031:G:A p.(Pro472=) NC_000009.12:137236031:G:A p.(Pro472=) NC_000009.12:137236031:G:A Identity +NM_001364440.2:c.1362G>A NP_001351369.1:p.Ser454= NC_000005.10:7891405:G:A p.(Ser454=) NC_000005.10:7891405:G:A p.(Ser454=) NC_000005.10:7891405:G:A Identity +NM_001278055.2:c.3609A>G NP_001264984.1:p.Gln1203= NC_000013.11:23339825:T:C p.(Gln1203=) NC_000013.11:23339825:T:C p.(Gln1203=) NC_000013.11:23339825:T:C Identity +NM_001007792.1:c.2163C>T NP_001007793.1:p.Tyr721= NC_000001.11:156881521:C:T p.(Tyr721=) NC_000001.11:156881521:C:T p.(Tyr721=) NC_000001.11:156881521:C:T Identity +NM_000086.2:c.204A>G NP_000077.1:p.Thr68= NC_000016.10:28489307:T:C p.(Thr68=) NC_000016.10:28489307:T:C p.(Thr68=) NC_000016.10:28489307:T:C Identity +NM_000053.4:c.1524G>A NP_000044.2:p.Arg508= NC_000013.11:51970510:C:T p.(Arg508=) NC_000013.11:51970510:C:T p.(Arg508=) NC_000013.11:51970510:C:T Identity +NM_000182.5:c.774A>G NP_000173.2:p.Pro258= NC_000002.12:26215077:T:C p.(Pro258=) NC_000002.12:26215077:T:C p.(Pro258=) NC_000002.12:26215077:T:C Identity +NM_000378.6:c.1389T>C NP_000369.4:p.Gly463= NC_000011.10:32389177:A:G p.(Gly463=) NC_000011.10:32389177:A:G p.(Gly463=) NC_000011.10:32389177:A:G Identity +NM_001166136.2:c.3618C>T NP_001159608.1:p.His1206= NC_000004.12:5562916:G:A p.(His1206=) NC_000004.12:5562916:G:A p.(His1206=) NC_000004.12:5562916:G:A Identity +NM_014244.5:c.183C>T NP_055059.2:p.Pro61= NC_000005.10:179344117:G:A p.(Pro61=) NC_000005.10:179344117:G:A p.(Pro61=) NC_000005.10:179344117:G:A Identity +NM_002439.5:c.2235G>A NP_002430.3:p.Val745= NC_000005.10:80768984:G:A p.(Val745=) NC_000005.10:80768984:G:A p.(Val745=) NC_000005.10:80768984:G:A Identity +NM_004304.5:c.406C>A NP_004295.2:p.Arg136= NC_000002.12:29920253:G:T p.(Arg136=) NC_000002.12:29920253:G:T p.(Arg136=) NC_000002.12:29920253:G:T Identity +NM_003079.5:c.1125C>T NP_003070.3:p.Asp375= NC_000017.11:40628895:G:A p.(Asp375=) NC_000017.11:40628895:G:A p.(Asp375=) NC_000017.11:40628895:G:A Identity +NM_006612.6:c.2913C>T NP_006603.2:p.Pro971= NC_000017.11:5023751:C:T p.(Pro971=) NC_000017.11:5023751:C:T p.(Pro971=) NC_000017.11:5023751:C:T Identity +NM_001042465.3:c.1347T>C NP_001035930.1:p.Pro449= NC_000010.11:71819476:A:G p.(Pro449=) NC_000010.11:71819476:A:G p.(Pro449=) NC_000010.11:71819476:A:G Identity +NM_000051.4:c.450T>A NP_000042.3:p.Leu150= NC_000011.10:108235787:T:A p.(Leu150=) NC_000011.10:108235787:T:A p.(Leu150=) NC_000011.10:108235787:T:A Identity +NM_000528.4:c.531C>A NP_000519.2:p.Arg177= NC_000019.10:12664890:G:T p.(Arg177=) NC_000019.10:12664890:G:T p.(Arg177=) NC_000019.10:12664890:G:T Identity +NM_000323.2:c.2991G>A NP_000314.1:p.Val997= NC_000010.11:43124933:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000203.5:c.1674C>A NP_000194.2:p.Pro558= NC_000004.12:1003571:C:A p.(Pro558=) NC_000004.12:1003571:C:A p.(Pro558=) NC_000004.12:1003571:C:A Identity +NM_000834.5:c.2442C>T NP_000825.2:p.Asp814= NC_000012.12:13567180:G:A p.(Asp814=) NC_000012.12:13567180:G:A p.(Asp814=) NC_000012.12:13567180:G:A Identity +NM_000719.7:c.733C>T NP_000710.5:p.Leu245= NC_000012.12:2457681:C:T p.(Leu245=) NC_000012.12:2457681:C:T p.(Leu245=) NC_000012.12:2457681:C:T Identity +NM_001166111.2:c.2400G>A NP_001159583.1:p.Thr800= NC_000019.10:7553983:G:A p.(Thr800=) NC_000019.10:7553983:G:A p.(Thr800=) NC_000019.10:7553983:G:A Identity +NM_001256468.2:c.2715A>G NP_001243397.1:p.Glu905= NC_000010.11:75022122:A:G p.(Glu905=) NC_000010.11:75022122:A:G p.(Glu905=) NC_000010.11:75022122:A:G Identity +NM_017947.4:c.2418G>A NP_060417.4:p.Gly806= NC_000018.10:36266756:G:A p.(Gly806=) NC_000018.10:36266756:G:A p.(Gly806=) NC_000018.10:36266756:G:A Identity +NM_000245.4:c.4023C>T NP_000236.2:p.Phe1341= NC_000007.14:116795973:C:T p.(Phe1341=) NC_000007.14:116795973:C:T p.(Phe1341=) NC_000007.14:116795973:C:T Identity +NM_000489.6:c.3843A>G NP_000480.3:p.Lys1281= NC_000023.11:77664744:T:C p.(Lys1281=) NC_000023.11:77664744:T:C p.(Lys1281=) NC_000023.11:77664744:T:C Identity +NM_015192.4:c.1527G>C NP_056007.1:p.Thr509= NC_000020.11:8722366:G:C p.(Thr509=) NC_000020.11:8722366:G:C p.(Thr509=) NC_000020.11:8722366:G:C Identity +NM_003036.4:c.81C>T NP_003027.1:p.Ser27= NC_000001.11:2228846:C:T p.(Ser27=) NC_000001.11:2228846:C:T p.(Ser27=) NC_000001.11:2228846:C:T Identity +NM_020533.3:c.1554C>T NP_065394.1:p.Thr518= NC_000019.10:7530479:C:T p.(Thr518=) NC_000019.10:7530479:C:T p.(Thr518=) NC_000019.10:7530479:C:T Identity +NM_001385125.1:c.561C>T NP_001372054.1:p.Thr187= NC_000007.14:128774614:G:A p.(Thr187=) NC_000007.14:128774614:G:A p.(Thr187=) NC_000007.14:128774614:G:A Identity +NM_001083926.2:c.918C>T NP_001077395.1:p.Asp306= NC_000011.10:62392274:C:T p.(Asp306=) NC_000011.10:62392274:C:T p.(Asp306=) NC_000011.10:62392274:C:T Identity +NM_000158.4:c.477G>A NP_000149.4:p.Pro159= NC_000003.12:81649873:C:T p.(Pro159=) NC_000003.12:81649873:C:T p.(Pro159=) NC_000003.12:81649873:C:T Identity +NM_001160227.2:c.4992C>T NP_001153699.1:p.Tyr1664= NC_000015.10:44585764:G:A p.(Tyr1664=) NC_000015.10:44585764:G:A p.(Tyr1664=) NC_000015.10:44585764:G:A Identity +NM_001379200.1:c.1446C>G NP_001366129.1:p.Ala482= NC_000022.11:19766797:C:G p.(Ala482=) NC_000022.11:19766797:C:G p.(Ala482=) NC_000022.11:19766797:C:G Identity +NM_000387.6:c.570T>C NP_000378.1:p.Tyr190= NC_000003.12:48859592:A:G p.(Tyr190=) NC_000003.12:48859592:A:G p.(Tyr190=) NC_000003.12:48859592:A:G Identity +NM_001293557.2:c.1182G>A NP_001280486.1:p.Lys394= NC_000016.10:50711173:G:A p.(Lys394=) NC_000016.10:50711173:G:A p.(Lys394=) NC_000016.10:50711173:G:A Identity +NM_003659.4:c.1875A>G NP_003650.1:p.Gln625= NC_000002.12:177538092:A:G p.(Gln625=) NC_000002.12:177538092:A:G p.(Gln625=) NC_000002.12:177538092:A:G Identity +NM_007123.6:c.1416T>C NP_009054.6:p.Asn472= NC_000001.11:216323607:A:G p.(Asn472=) NC_000001.11:216323607:A:G p.(Asn472=) NC_000001.11:216323607:A:G Identity +NM_001365999.1:c.1683C>T NP_001352928.1:p.Tyr561= NC_000001.11:43422138:C:T p.(Tyr561=) NC_000001.11:43422138:C:T p.(Tyr561=) NC_000001.11:43422138:C:T Identity +NM_001365951.3:c.2892C>T NP_001352880.1:p.Tyr964= NC_000001.11:10326326:C:T p.(Tyr964=) NC_000001.11:10326326:C:T p.(Tyr964=) NC_000001.11:10326326:C:T Identity +NM_014714.4:c.201G>T NP_055529.2:p.Leu67= NC_000016.10:1602537:C:A p.(Leu67=) NC_000016.10:1602537:C:A p.(Leu67=) NC_000016.10:1602537:C:A Identity +NM_001308164.2:c.792G>A NP_001295093.1:p.Ala264= NC_000003.12:158652140:G:A p.(Ala264=) NC_000003.12:158652140:G:A p.(Ala264=) NC_000003.12:158652140:G:A Identity +NM_000271.5:c.51A>T NP_000262.2:p.Pro17= NC_000018.10:23586292:T:A p.(Pro17=) NC_000018.10:23586292:T:A p.(Pro17=) NC_000018.10:23586292:T:A Identity +NM_001166136.2:c.513A>G NP_001159608.1:p.Gly171= NC_000004.12:5685432:T:C p.(Gly171=) NC_000004.12:5685432:T:C p.(Gly171=) NC_000004.12:5685432:T:C Identity +NM_006939.4:c.2190A>G NP_008870.2:p.Ser730= NC_000014.9:50150201:T:C p.(Ser730=) NC_000014.9:50150201:T:C p.(Ser730=) NC_000014.9:50150201:T:C Identity +NM_004605.2:c.592C>T NP_004596.2:p.Leu198= NC_000019.10:48592807:C:T p.(Leu198=) NC_000019.10:48592807:C:T p.(Leu198=) NC_000019.10:48592807:C:T Identity +NM_004281.4:c.1047A>G NP_004272.2:p.Lys349= NC_000010.11:119676600:A:G p.(Lys349=) NC_000010.11:119676600:A:G p.(Lys349=) NC_000010.11:119676600:A:G Identity +NM_000742.4:c.918A>T NP_000733.2:p.Ser306= NC_000008.11:27463524:T:A p.(Ser306=) NC_000008.11:27463524:T:A p.(Ser306=) NC_000008.11:27463524:T:A Identity +NM_000053.4:c.2322T>C NP_000044.2:p.Ile774= NC_000013.11:51958343:A:G p.(Ile774=) NC_000013.11:51958343:A:G p.(Ile774=) NC_000013.11:51958343:A:G Identity +NM_000018.4:c.423C>T NP_000009.1:p.Ala141= NC_000017.11:7221003:C:T p.(Ala141=) NC_000017.11:7221003:C:T p.(Ala141=) NC_000017.11:7221003:C:T Identity +NM_001164507.2:c.19194T>C NP_001157979.2:p.Asn6398= NC_000002.12:151561015:A:G p.(Asn6398=) NC_000002.12:151561015:A:G p.(Asn6398=) NC_000002.12:151561015:A:G Identity +NM_001144996.2:c.18C>T NP_001138468.1:p.Ser6= NC_000012.12:55707664:G:A p.(Ser6=) NC_000012.12:55707664:G:A p.(Ser6=) NC_000012.12:55707664:G:A Identity +NM_000182.5:c.1539G>T NP_000173.2:p.Thr513= NC_000002.12:26195172:C:A p.(Thr513=) NC_000002.12:26195172:C:A p.(Thr513=) NC_000002.12:26195172:C:A Identity +NM_001330358.2:c.1278T>C NP_001317287.1:p.Pro426= NC_000001.11:11794739:A:G p.(Pro426=) NC_000001.11:11794739:A:G p.(Pro426=) NC_000001.11:11794739:A:G Identity +NM_004629.2:c.1758G>T NP_004620.1:p.Leu586= NC_000009.12:35074372:C:A p.(Leu586=) NC_000009.12:35074372:C:A p.(Leu586=) NC_000009.12:35074372:C:A Identity +NM_000540.3:c.4155G>A NP_000531.2:p.Lys1385= NC_000019.10:38473765:G:A p.(Lys1385=) NC_000019.10:38473765:G:A p.(Lys1385=) NC_000019.10:38473765:G:A Identity +NM_001018041.2:c.9C>T NP_001018051.1:p.Phe3= NC_000006.12:145735489:G:A p.(Phe3=) NC_000006.12:145735489:G:A p.(Phe3=) NC_000006.12:145735489:G:A Identity +NM_001286256.2:c.369C>T NP_001273185.1:p.Tyr123= NC_000012.12:57248144:G:A p.(Tyr123=) NC_000012.12:57248144:G:A p.(Tyr123=) NC_000012.12:57248144:G:A Identity +NM_001127487.2:c.855C>T NP_001120959.1:p.Ile285= NC_000007.14:128837640:C:T p.(Ile285=) NC_000007.14:128837640:C:T p.(Ile285=) NC_000007.14:128837640:C:T Identity +NM_001164507.2:c.13719C>T NP_001157979.2:p.His4573= NC_000002.12:151600510:G:A p.(His4573=) NC_000002.12:151600510:G:A p.(His4573=) NC_000002.12:151600510:G:A Identity +NM_000018.4:c.1092T>C NP_000009.1:p.Thr364= NC_000017.11:7223146:T:C p.(Thr364=) NC_000017.11:7223146:T:C p.(Thr364=) NC_000017.11:7223146:T:C Identity +NM_002439.5:c.2532A>C NP_002430.3:p.Gly844= NC_000005.10:80787660:A:C p.(Gly844=) NC_000005.10:80787660:A:C p.(Gly844=) NC_000005.10:80787660:A:C Identity +NM_005045.4:c.1185A>G NP_005036.2:p.Gly395= NC_000007.14:103682219:T:C p.(Gly395=) NC_000007.14:103682219:T:C p.(Gly395=) NC_000007.14:103682219:T:C Identity +NM_000118.4:c.786C>T NP_000109.1:p.Leu262= NC_000009.12:127825260:G:A p.(Leu262=) NC_000009.12:127825260:G:A p.(Leu262=) NC_000009.12:127825260:G:A Identity +NM_001363813.1:c.600G>T NP_001350742.1:p.Val200= NC_000017.11:65558020:C:A p.(Val200=) NC_000017.11:65558020:C:A p.(Val200=) NC_000017.11:65558020:C:A Identity +NM_001284509.2:c.1509C>A NP_001271438.1:p.Leu503= NC_000017.11:6687543:G:T p.(Leu503=) NC_000017.11:6687543:G:T p.(Leu503=) NC_000017.11:6687543:G:T Identity +NM_000094.4:c.7920G>A NP_000085.1:p.Lys2640= NC_000003.12:48567846:C:T p.(Lys2640=) NC_000003.12:48567846:C:T p.(Lys2640=) NC_000003.12:48567846:C:T Identity +NM_001379200.1:c.1275C>T NP_001366129.1:p.Tyr425= NC_000022.11:19766626:C:T p.(Tyr425=) NC_000022.11:19766626:C:T p.(Tyr425=) NC_000022.11:19766626:C:T Identity +NM_001386500.1:c.3276C>T NP_001373429.1:p.Val1092= NC_000001.11:11213407:G:A p.(Val1092=) NC_000001.11:11213407:G:A p.(Val1092=) NC_000001.11:11213407:G:A Identity +NM_001127487.2:c.7338T>C NP_001120959.1:p.Asp2446= NC_000007.14:128856796:T:C p.(Asp2446=) NC_000007.14:128856796:T:C p.(Asp2446=) NC_000007.14:128856796:T:C Identity +NM_001349253.2:c.5346G>A NP_001336182.1:p.Gly1782= NC_000003.12:38846723:C:T p.(Gly1782=) NC_000003.12:38846723:C:T p.(Gly1782=) NC_000003.12:38846723:C:T Identity +NM_004260.4:c.2712C>T NP_004251.4:p.Leu904= NC_000008.11:144512889:G:A p.(Leu904=) NC_000008.11:144512889:G:A p.(Leu904=) NC_000008.11:144512889:G:A Identity +NM_001692.4:c.516C>T NP_001683.2:p.Asp172= NC_000002.12:70960008:C:T p.(Asp172=) NC_000002.12:70960008:C:T p.(Asp172=) NC_000002.12:70960008:C:T Identity +NM_001174089.2:c.1275C>T NP_001167560.1:p.Tyr425= NC_000020.11:3230738:G:A p.(Tyr425=) NC_000020.11:3230738:G:A p.(Tyr425=) NC_000020.11:3230738:G:A Identity +NM_001166136.2:c.1140G>C NP_001159608.1:p.Leu380= NC_000004.12:5640603:C:G p.(Leu380=) NC_000004.12:5640603:C:G p.(Leu380=) NC_000004.12:5640603:C:G Identity +NM_001005373.4:c.1701A>G NP_001005373.1:p.Glu567= NC_000009.12:127495965:A:G p.(Glu567=) NC_000009.12:127495965:A:G p.(Glu567=) NC_000009.12:127495965:A:G Identity +NM_006231.4:c.2511C>T NP_006222.2:p.Phe837= NC_000012.12:132664419:G:A p.(Phe837=) NC_000012.12:132664419:G:A p.(Phe837=) NC_000012.12:132664419:G:A Identity +NM_138694.4:c.3609T>C NP_619639.3:p.Pro1203= NC_000006.12:52027847:A:G p.(Pro1203=) NC_000006.12:52027847:A:G p.(Pro1203=) NC_000006.12:52027847:A:G Identity +NM_015164.4:c.3021T>C NP_055979.2:p.Ser1007= NC_000001.11:15733894:T:C p.(Ser1007=) NC_000001.11:15733894:T:C p.(Ser1007=) NC_000001.11:15733894:T:C Identity +NM_006267.5:c.6276G>A NP_006258.3:p.Thr2092= NC_000002.12:108766814:G:A p.(Thr2092=) NC_000002.12:108766814:G:A p.(Thr2092=) NC_000002.12:108766814:G:A Identity +NM_000232.5:c.771A>C NP_000223.1:p.Leu257= NC_000004.12:52024142:T:G p.(Leu257=) NC_000004.12:52024142:T:G p.(Leu257=) NC_000004.12:52024142:T:G Identity +NM_206933.4:c.10089T>C NP_996816.3:p.Leu3363= NC_000001.11:215790151:A:G p.(Leu3363=) NC_000001.11:215790151:A:G p.(Leu3363=) NC_000001.11:215790151:A:G Identity +NM_001363227.2:c.495T>C NP_001350156.1:p.Pro165= NC_000008.11:43161438:T:C p.(Pro165=) NC_000008.11:43161438:T:C p.(Pro165=) NC_000008.11:43161438:T:C Identity +NM_014334.4:c.309T>C NP_055149.3:p.Thr103= NC_000009.12:109149649:A:G p.(Thr103=) NC_000009.12:109149649:A:G p.(Thr103=) NC_000009.12:109149649:A:G Identity +NM_015346.4:c.3951G>A NP_056161.2:p.Thr1317= NC_000014.9:67783200:C:T p.(Thr1317=) NC_000014.9:67783200:C:T p.(Thr1317=) NC_000014.9:67783200:C:T Identity +NM_001164507.2:c.5325C>T NP_001157979.2:p.Asn1775= NC_000002.12:151664776:G:A p.(Asn1775=) NC_000002.12:151664776:G:A p.(Asn1775=) NC_000002.12:151664776:G:A Identity +NM_001164507.2:c.13539G>A NP_001157979.2:p.Lys4513= NC_000002.12:151600690:C:T p.(Lys4513=) NC_000002.12:151600690:C:T p.(Lys4513=) NC_000002.12:151600690:C:T Identity +NM_000028.3:c.696A>G NP_000019.2:p.Pro232= NC_000001.11:99870430:A:G p.(Pro232=) NC_000001.11:99870430:A:G p.(Pro232=) NC_000001.11:99870430:A:G Identity +NM_000478.6:c.783G>A NP_000469.3:p.Pro261= NC_000001.11:21568237:G:A p.(Pro261=) NC_000001.11:21568237:G:A p.(Pro261=) NC_000001.11:21568237:G:A Identity +NM_000052.7:c.1920C>T NP_000043.4:p.His640= NC_000023.11:78011225:C:T p.(His640=) NC_000023.11:78011225:C:T p.(His640=) NC_000023.11:78011225:C:T Identity +NM_001382361.1:c.421C>T NP_001369290.1:p.Leu141= NC_000011.10:64211077:C:T p.(Leu141=) NC_000011.10:64211077:C:T p.(Leu141=) NC_000011.10:64211077:C:T Identity +NM_000287.4:c.129A>T NP_000278.3:p.Ala43= NC_000006.12:42979021:T:A p.(Ala43=) NC_000006.12:42979021:T:A p.(Ala43=) NC_000006.12:42979021:T:A Identity +NM_025216.3:c.555T>C NP_079492.2:p.Gly185= NC_000002.12:218890161:T:C p.(Gly185=) NC_000002.12:218890161:T:C p.(Gly185=) NC_000002.12:218890161:T:C Identity +NM_001134363.3:c.3096G>A NP_001127835.2:p.Val1032= NC_000010.11:110821714:G:A p.(Val1032=) NC_000010.11:110821714:G:A p.(Val1032=) NC_000010.11:110821714:G:A Identity +NM_000035.4:c.1044T>C NP_000026.2:p.Ser348= NC_000009.12:101421859:A:G p.(Ser348=) NC_000009.12:101421859:A:G p.(Ser348=) NC_000009.12:101421859:A:G Identity +NM_001174089.2:c.1824C>T NP_001167560.1:p.Ser608= NC_000020.11:3229370:G:A p.(Ser608=) NC_000020.11:3229370:G:A p.(Ser608=) NC_000020.11:3229370:G:A Identity +NM_000253.4:c.291A>C NP_000244.2:p.Gly97= NC_000004.12:99583414:A:C p.(Gly97=) NC_000004.12:99583414:A:C p.(Gly97=) NC_000004.12:99583414:A:C Identity +NM_000360.4:c.1170C>T NP_000351.2:p.Ala390= NC_000011.10:2165697:G:A p.(Ala390=) NC_000011.10:2165697:G:A p.(Ala390=) NC_000011.10:2165697:G:A Identity +NM_001308133.2:c.3810C>A NP_001295062.1:p.Ile1270= NC_000014.9:45176641:C:A p.(Ile1270=) NC_000014.9:45176641:C:A p.(Ile1270=) NC_000014.9:45176641:C:A Identity +NM_001166136.2:c.615A>G NP_001159608.1:p.Ala205= NC_000004.12:5681274:T:C p.(Ala205=) NC_000004.12:5681274:T:C p.(Ala205=) NC_000004.12:5681274:T:C Identity +NM_020184.4:c.2145G>A NP_064569.3:p.Gln715= NC_000002.12:96809333:G:A p.(Gln715=) NC_000002.12:96809333:G:A p.(Gln715=) NC_000002.12:96809333:G:A Identity +NM_000246.4:c.714T>C NP_000237.2:p.His238= NC_000016.10:10902742:T:C p.(His238=) NC_000016.10:10902742:T:C p.(His238=) NC_000016.10:10902742:T:C Identity +NM_001160227.2:c.4617T>C NP_001153699.1:p.Gly1539= NC_000015.10:44595276:A:G p.(Gly1539=) NC_000015.10:44595276:A:G p.(Gly1539=) NC_000015.10:44595276:A:G Identity +NM_000094.4:c.6057G>C NP_000085.1:p.Leu2019= NC_000003.12:48575461:C:G p.(Leu2019=) NC_000003.12:48575461:C:G p.(Leu2019=) NC_000003.12:48575461:C:G Identity +NM_000535.7:c.2106C>A NP_000526.2:p.Ala702= NC_000007.14:5982891:G:T p.(Ala702=) NC_000007.14:5982891:G:T p.(Ala702=) NC_000007.14:5982891:G:T Identity +NM_153006.3:c.1378C>T NP_694551.1:p.Leu460= NC_000017.11:44007699:C:T p.(Leu460=) NC_000017.11:44007699:C:T p.(Leu460=) NC_000017.11:44007699:C:T Identity +NM_005045.4:c.1420C>T NP_005036.2:p.Leu474= NC_000007.14:103661396:G:A p.(Leu474=) NC_000007.14:103661396:G:A p.(Leu474=) NC_000007.14:103661396:G:A Identity +NM_000553.6:c.3054T>C NP_000544.2:p.Phe1018= NC_000008.11:31141515:T:C p.(Phe1018=) NC_000008.11:31141515:T:C p.(Phe1018=) NC_000008.11:31141515:T:C Identity +NM_000076.2:c.489T>C NP_000067.1:p.Ala163= NC_000011.10:2885000:A:G p.(Ala163=) NC_000011.10:2885000:A:G p.(Ala163=) NC_000011.10:2885000:A:G Identity +NM_001164665.2:c.3783C>T NP_001158137.1:p.Asn1261= NC_000007.14:138899018:G:A p.(Asn1261=) NC_000007.14:138899018:G:A p.(Asn1261=) NC_000007.14:138899018:G:A Identity +NM_001042663.3:c.2676G>A NP_001036128.2:p.Ser892= NC_000001.11:6468270:C:T p.(Ser892=) NC_000001.11:6468270:C:T p.(Ser892=) NC_000001.11:6468270:C:T Identity +NM_002294.3:c.1152C>T NP_002285.1:p.Ala384= NC_000023.11:120431403:G:A p.(Ala384=) NC_000023.11:120431403:G:A p.(Ala384=) NC_000023.11:120431403:G:A Identity +NM_032119.4:c.14820C>T NP_115495.3:p.Asn4940= NC_000005.10:90805441:C:T p.(Asn4940=) NC_000005.10:90805441:C:T p.(Asn4940=) NC_000005.10:90805441:C:T Identity +NM_002876.4:c.261A>G NP_002867.1:p.Ala87= NC_000017.11:58695045:A:G p.(Ala87=) NC_000017.11:58695045:A:G p.(Ala87=) NC_000017.11:58695045:A:G Identity +NM_001018837.2:c.18C>G NP_001018238.1:p.Leu6= NC_000001.11:154272740:C:G p.(Leu6=) NC_000001.11:154272740:C:G p.(Leu6=) NC_000001.11:154272740:C:G Identity +NM_001079866.2:c.759G>A NP_001073335.1:p.Leu253= NC_000002.12:218662548:G:A p.(Leu253=) NC_000002.12:218662548:G:A p.(Leu253=) NC_000002.12:218662548:G:A Identity +NM_004304.5:c.579G>A NP_004295.2:p.Lys193= NC_000002.12:29920080:C:T p.(Lys193=) NC_000002.12:29920080:C:T p.(Lys193=) NC_000002.12:29920080:C:T Identity +NM_005045.4:c.8691C>T NP_005036.2:p.Asp2897= NC_000007.14:103498228:G:A p.(Asp2897=) NC_000007.14:103498228:G:A p.(Asp2897=) NC_000007.14:103498228:G:A Identity +NM_001008844.3:c.4686C>G NP_001008844.1:p.Ser1562= NC_000006.12:7583744:C:G p.(Ser1562=) NC_000006.12:7583744:C:G p.(Ser1562=) NC_000006.12:7583744:C:G Identity +NM_001174063.2:c.456T>C NP_001167534.1:p.Ala152= NC_000008.11:38428085:A:G p.(Ala152=) NC_000008.11:38428085:A:G p.(Ala152=) NC_000008.11:38428085:A:G Identity +NM_001184.4:c.6153C>T NP_001175.2:p.Pro2051= NC_000003.12:142485207:G:A p.(Pro2051=) NC_000003.12:142485207:G:A p.(Pro2051=) NC_000003.12:142485207:G:A Identity +NM_001376.5:c.3900C>T NP_001367.2:p.Ala1300= NC_000014.9:102000083:C:T p.(Ala1300=) NC_000014.9:102000083:C:T p.(Ala1300=) NC_000014.9:102000083:C:T Identity +NM_012193.4:c.1494C>T NP_036325.2:p.Ala498= NC_000011.10:86951261:G:A p.(Ala498=) NC_000011.10:86951261:G:A p.(Ala498=) NC_000011.10:86951261:G:A Identity +NM_001363520.3:c.1005G>A NP_001350449.1:p.Ser335= NC_000004.12:127921667:C:T p.(Ser335=) NC_000004.12:127921667:C:T p.(Ser335=) NC_000004.12:127921667:C:T Identity +NM_000053.4:c.2298G>A NP_000044.2:p.Thr766= NC_000013.11:51958367:C:T p.(Thr766=) NC_000013.11:51958367:C:T p.(Thr766=) NC_000013.11:51958367:C:T Identity +NM_001042465.3:c.268T>C NP_001035930.1:p.Leu90= NC_000010.11:71831232:A:G p.(Leu90=) NC_000010.11:71831232:A:G p.(Leu90=) NC_000010.11:71831232:A:G Identity +NM_006361.6:c.465T>G NP_006352.2:p.Pro155= NC_000017.11:48728128:A:C p.(Pro155=) NC_000017.11:48728128:A:C p.(Pro155=) NC_000017.11:48728128:A:C Identity +NM_001164507.2:c.23088C>T NP_001157979.2:p.Asp7696= NC_000002.12:151514356:G:A p.(Asp7696=) NC_000002.12:151514356:G:A p.(Asp7696=) NC_000002.12:151514356:G:A Identity +NM_001943.5:c.195C>T NP_001934.2:p.Ser65= NC_000018.10:31519915:C:T p.(Ser65=) NC_000018.10:31519915:C:T p.(Ser65=) NC_000018.10:31519915:C:T Identity +NM_002439.5:c.849A>G NP_002430.3:p.Ala283= NC_000005.10:80672299:A:G p.(Ala283=) NC_000005.10:80672299:A:G p.(Ala283=) NC_000005.10:80672299:A:G Identity +NM_005751.5:c.1857A>G NP_005742.4:p.Glu619= NC_000007.14:92001773:A:G p.(Glu619=) NC_000007.14:92001773:A:G p.(Glu619=) NC_000007.14:92001773:A:G Identity +NM_001306090.2:c.666G>A NP_001293019.1:p.Leu222= NC_000004.12:5733398:G:A p.(Leu222=) NC_000004.12:5733398:G:A p.(Leu222=) NC_000004.12:5733398:G:A Identity +NM_000397.4:c.288G>A NP_000388.2:p.Arg96= NC_000023.11:37792009:G:A p.(Arg96=) NC_000023.11:37792009:G:A p.(Arg96=) NC_000023.11:37792009:G:A Identity +NM_001128225.3:c.909C>A NP_001121697.2:p.Pro303= NC_000011.10:47414898:C:A p.(Pro303=) NC_000011.10:47414898:C:A p.(Pro303=) NC_000011.10:47414898:C:A Identity +NM_000334.4:c.4323C>T NP_000325.4:p.Phe1441= NC_000017.11:63941958:G:A p.(Phe1441=) NC_000017.11:63941958:G:A p.(Phe1441=) NC_000017.11:63941958:G:A Identity +NM_000086.2:c.1017C>T NP_000077.1:p.Cys339= NC_000016.10:28482143:G:A p.(Cys339=) NC_000016.10:28482143:G:A p.(Cys339=) NC_000016.10:28482143:G:A Identity +NM_001256944.2:c.1296T>G NP_001243873.1:p.Gly432= NC_000023.11:10213681:T:G p.(Gly432=) NC_000023.11:10213681:T:G p.(Gly432=) NC_000023.11:10213681:T:G Identity +NM_000033.4:c.1657C>T NP_000024.2:p.Leu553= NC_000023.11:153740595:C:T p.(Leu553=) NC_000023.11:153740595:C:T p.(Leu553=) NC_000023.11:153740595:C:T Identity +NM_001164507.2:c.18939C>T NP_001157979.2:p.Tyr6313= NC_000002.12:151562166:G:A p.(Tyr6313=) NC_000002.12:151562166:G:A p.(Tyr6313=) NC_000002.12:151562166:G:A Identity +NM_001164716.1:c.192C>T NP_001158188.1:p.Leu64= NC_000011.10:64759706:G:A p.(Leu64=) NC_000011.10:64759706:G:A p.(Leu64=) NC_000011.10:64759706:G:A Identity +NM_001099922.3:c.1830C>G NP_001093392.1:p.Leu610= NC_000023.11:111726908:C:G p.(Leu610=) NC_000023.11:111726908:C:G p.(Leu610=) NC_000023.11:111726908:C:G Identity +NM_000053.4:c.2934G>T NP_000044.2:p.Val978= NC_000013.11:51946409:C:A p.(Val978=) NC_000013.11:51946409:C:A p.(Val978=) NC_000013.11:51946409:C:A Identity +NM_001272003.2:c.3348G>T NP_001258932.1:p.Gly1116= NC_000009.12:135786501:G:T p.(Gly1116=) NC_000009.12:135786501:G:T p.(Gly1116=) NC_000009.12:135786501:G:T Identity +NM_002439.5:c.3165C>T NP_002430.3:p.Phe1055= NC_000005.10:80873149:C:T p.(Phe1055=) NC_000005.10:80873149:C:T p.(Phe1055=) NC_000005.10:80873149:C:T Identity +NM_001164674.2:c.348G>A NP_001158146.1:p.Ala116= NC_000003.12:4452971:C:T p.(Ala116=) NC_000003.12:4452971:C:T p.(Ala116=) NC_000003.12:4452971:C:T Identity +NM_000222.3:c.1683G>A NP_000213.1:p.Glu561= NC_000004.12:54727450:G:A p.(Glu561=) NC_000004.12:54727450:G:A p.(Glu561=) NC_000004.12:54727450:G:A Identity +NM_001082486.2:c.1032C>T NP_001075955.2:p.Cys344= NC_000016.10:67658159:G:A p.(Cys344=) NC_000016.10:67658159:G:A p.(Cys344=) NC_000016.10:67658159:G:A Identity +NM_000214.3:c.153C>T NP_000205.1:p.Asn51= NC_000020.11:10672934:G:A p.(Asn51=) NC_000020.11:10672934:G:A p.(Asn51=) NC_000020.11:10672934:G:A Identity +NM_000035.4:c.933G>A NP_000026.2:p.Leu311= NC_000009.12:101424908:C:T p.(Leu311=) NC_000009.12:101424908:C:T p.(Leu311=) NC_000009.12:101424908:C:T Identity +NM_000112.4:c.141A>G NP_000103.2:p.Gln47= NC_000005.10:149977792:A:G p.(Gln47=) NC_000005.10:149977792:A:G p.(Gln47=) NC_000005.10:149977792:A:G Identity +NM_001378454.1:c.2997T>G NP_001365383.1:p.Pro999= NC_000002.12:73449523:T:G p.(Pro999=) NC_000002.12:73449523:T:G p.(Pro999=) NC_000002.12:73449523:T:G Identity +NM_000322.5:c.798T>G NP_000313.2:p.Gly266= NC_000006.12:42704394:A:C p.(Gly266=) NC_000006.12:42704394:A:C p.(Gly266=) NC_000006.12:42704394:A:C Identity +NM_001127487.2:c.5694C>T NP_001120959.1:p.Arg1898= NC_000007.14:128851578:C:T p.(Arg1898=) NC_000007.14:128851578:C:T p.(Arg1898=) NC_000007.14:128851578:C:T Identity +NM_001195263.2:c.1539G>A NP_001182192.1:p.Pro513= NC_000010.11:101016410:C:T p.(Pro513=) NC_000010.11:101016410:C:T p.(Pro513=) NC_000010.11:101016410:C:T Identity +NM_024529.5:c.867C>A NP_078805.3:p.Ala289= NC_000001.11:193150341:C:A p.(Ala289=) NC_000001.11:193150341:C:A p.(Ala289=) NC_000001.11:193150341:C:A Identity +NM_014244.5:c.1956G>A NP_055059.2:p.Lys652= NC_000005.10:179136037:C:T p.(Lys652=) NC_000005.10:179136037:C:T p.(Lys652=) NC_000005.10:179136037:C:T Identity +NM_001257137.3:c.2127A>G NP_001244066.1:p.Lys709= NC_000020.11:34481116:A:G p.(Lys709=) NC_000020.11:34481116:A:G p.(Lys709=) NC_000020.11:34481116:A:G Identity +NM_001349370.3:c.4476G>A NP_001336299.1:p.Gly1492= NC_000003.12:47113982:C:T p.(Gly1492=) NC_000003.12:47113982:C:T p.(Gly1492=) NC_000003.12:47113982:C:T Identity +NM_001126105.3:c.519C>T NP_001119577.1:p.Asn173= NC_000014.9:22780031:G:A p.(Asn173=) NC_000014.9:22780031:G:A p.(Asn173=) NC_000014.9:22780031:G:A Identity +NM_014714.4:c.609G>A NP_055529.2:p.Leu203= NC_000016.10:1592200:C:T p.(Leu203=) NC_000016.10:1592200:C:T p.(Leu203=) NC_000016.10:1592200:C:T Identity +NM_001081676.2:c.3712C>T NP_001075145.1:p.Leu1238= NC_000002.12:165100408:G:A p.(Leu1238=) NC_000002.12:165100408:G:A p.(Leu1238=) NC_000002.12:165100408:G:A Identity +NM_001008844.3:c.2662T>C NP_001008844.1:p.Leu888= NC_000006.12:7576324:T:C p.(Leu888=) NC_000006.12:7576324:T:C p.(Leu888=) NC_000006.12:7576324:T:C Identity +NM_001353229.2:c.600C>T NP_001340158.1:p.Leu200= NC_000017.11:17223993:G:A p.(Leu200=) NC_000017.11:17223993:G:A p.(Leu200=) NC_000017.11:17223993:G:A Identity +NM_173551.5:c.354G>A NP_775822.3:p.Ala118= NC_000009.12:98796137:C:T p.(Ala118=) NC_000009.12:98796137:C:T p.(Ala118=) NC_000009.12:98796137:C:T Identity +NM_001040428.4:c.1170A>G NP_001035518.1:p.Thr390= NC_000014.9:88437887:A:G p.(Thr390=) NC_000014.9:88437887:A:G p.(Thr390=) NC_000014.9:88437887:A:G Identity +NM_001136536.5:c.177T>C NP_001130008.2:p.Ile59= NC_000004.12:36290531:T:C p.(Ile59=) NC_000004.12:36290531:T:C p.(Ile59=) NC_000004.12:36290531:T:C Identity +NM_000553.6:c.1908C>T NP_000544.2:p.Tyr636= NC_000008.11:31096776:C:T p.(Tyr636=) NC_000008.11:31096776:C:T p.(Tyr636=) NC_000008.11:31096776:C:T Identity +NM_001164507.2:c.17958G>A NP_001157979.2:p.Glu5986= NC_000002.12:151567365:C:T p.(Glu5986=) NC_000002.12:151567365:C:T p.(Glu5986=) NC_000002.12:151567365:C:T Identity +NM_000081.4:c.1647C>T NP_000072.2:p.Cys549= NC_000001.11:235809170:G:A p.(Cys549=) NC_000001.11:235809170:G:A p.(Cys549=) NC_000001.11:235809170:G:A Identity +NM_000263.4:c.1950G>A NP_000254.2:p.Gly650= NC_000017.11:42543955:G:A p.(Gly650=) NC_000017.11:42543955:G:A p.(Gly650=) NC_000017.11:42543955:G:A Identity +NM_001126105.3:c.1116C>T NP_001119577.1:p.Tyr372= NC_000014.9:22774482:G:A p.(Tyr372=) NC_000014.9:22774482:G:A p.(Tyr372=) NC_000014.9:22774482:G:A Identity +NM_001844.5:c.4014C>T NP_001835.3:p.Ser1338= NC_000012.12:47974734:G:A p.(Ser1338=) NC_000012.12:47974734:G:A p.(Ser1338=) NC_000012.12:47974734:G:A Identity +NM_018648.4:c.150A>G NP_061118.1:p.Lys50= NC_000015.10:34342012:T:C p.(Lys50=) NC_000015.10:34342012:T:C p.(Lys50=) NC_000015.10:34342012:T:C Identity +NM_001282206.2:c.228C>T NP_001269135.1:p.Gly76= NC_000009.12:34635775:G:A p.(Gly76=) NC_000009.12:34635775:G:A p.(Gly76=) NC_000009.12:34635775:G:A Identity +NM_001177428.1:c.1557C>G NP_001170899.1:p.Leu519= NC_000012.12:109792777:G:C p.(Leu519=) NC_000012.12:109792777:G:C p.(Leu519=) NC_000012.12:109792777:G:C Identity +NM_001122769.3:c.357A>G NP_001116241.1:p.Val119= NC_000006.12:79513574:T:C p.(Val119=) NC_000006.12:79513574:T:C p.(Val119=) NC_000006.12:79513574:T:C Identity +NM_005045.4:c.6273C>T NP_005036.2:p.Val2091= NC_000007.14:103551095:G:A p.(Val2091=) NC_000007.14:103551095:G:A p.(Val2091=) NC_000007.14:103551095:G:A Identity +NM_001164665.2:c.4398C>T NP_001158137.1:p.Phe1466= NC_000007.14:138871309:G:A p.(Phe1466=) NC_000007.14:138871309:G:A p.(Phe1466=) NC_000007.14:138871309:G:A Identity +NM_001206855.3:c.438G>A NP_001193784.1:p.Gln146= NC_000007.14:100632096:C:T p.(Gln146=) NC_000007.14:100632096:C:T p.(Gln146=) NC_000007.14:100632096:C:T Identity +NM_001001290.2:c.708C>T NP_001001290.1:p.Asn236= NC_000004.12:9941931:G:A p.(Asn236=) NC_000004.12:9941931:G:A p.(Asn236=) NC_000004.12:9941931:G:A Identity +NM_004656.4:c.1650C>A NP_004647.1:p.Val550= NC_000003.12:52403494:G:T p.(Val550=) NC_000003.12:52403494:G:T p.(Val550=) NC_000003.12:52403494:G:T Identity +NM_000255.4:c.1119A>G NP_000246.2:p.Glu373= NC_000006.12:49451678:T:C p.(Glu373=) NC_000006.12:49451678:T:C p.(Glu373=) NC_000006.12:49451678:T:C Identity +NM_001145472.3:c.312G>A NP_001138944.1:p.Lys104= NC_000018.10:46542829:C:T p.(Lys104=) NC_000018.10:46542829:C:T p.(Lys104=) NC_000018.10:46542829:C:T Identity +NM_000426.4:c.3969T>A NP_000417.3:p.Thr1323= NC_000006.12:129316081:T:A p.(Thr1323=) NC_000006.12:129316081:T:A p.(Thr1323=) NC_000006.12:129316081:T:A Identity +NM_001378454.1:c.3918A>G NP_001365383.1:p.Leu1306= NC_000002.12:73450444:A:G p.(Leu1306=) NC_000002.12:73450444:A:G p.(Leu1306=) NC_000002.12:73450444:A:G Identity +NM_001164277.2:c.963A>G NP_001157749.1:p.Thr321= NC_000011.10:119025987:T:C p.(Thr321=) NC_000011.10:119025987:T:C p.(Thr321=) NC_000011.10:119025987:T:C Identity +NM_001161529.2:c.57C>T NP_001155001.1:p.Leu19= NC_000024.10:1282759:C:T p.(Leu19=) NC_000023.11:1282759:C:T p.(Leu19=) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Identity +NM_005530.3:c.390C>T NP_005521.1:p.Ile130= NC_000015.10:78161680:C:T p.(Ile130=) NC_000015.10:78161680:C:T p.(Ile130=) NC_000015.10:78161680:C:T Identity +NM_005236.3:c.2124C>A NP_005227.1:p.Pro708= NC_000016.10:13947719:C:A p.(Pro708=) NC_000016.10:13947719:C:A p.(Pro708=) NC_000016.10:13947719:C:A Identity +NM_020451.3:c.1566C>T NP_065184.2:p.Pro522= NC_000001.11:25814141:C:T p.(Pro522=) NC_000001.11:25814141:C:T p.? NC_000001.11:25814141:C:T Identity +NM_000198.4:c.267T>A NP_000189.1:p.Gly89= NC_000001.11:119419541:T:A p.(Gly89=) NC_000001.11:119419541:T:A p.(Gly89=) NC_000001.11:119419541:T:A Identity +NM_001004426.3:c.1533G>A NP_001004426.1:p.Lys511= NC_000022.11:38120805:C:T p.(Lys511=) NC_000022.11:38120805:C:T p.(Lys511=) NC_000022.11:38120805:C:T Identity +NM_001363227.2:c.45G>A NP_001350156.1:p.Ala15= NC_000008.11:43140540:G:A p.(Ala15=) NC_000008.11:43140540:G:A p.(Ala15=) NC_000008.11:43140540:G:A Identity +NM_000231.3:c.315A>G NP_000222.2:p.Leu105= NC_000013.11:23250646:A:G p.(Leu105=) NC_000013.11:23250646:A:G p.(Leu105=) NC_000013.11:23250646:A:G Identity +NM_000023.4:c.883C>T NP_000014.1:p.Leu295= NC_000017.11:50170277:C:T p.(Leu295=) NC_000017.11:50170277:C:T p.(Leu295=) NC_000017.11:50170277:C:T Identity +NM_001128225.3:c.570C>T NP_001121697.2:p.Ala190= NC_000011.10:47413431:C:T p.(Ala190=) NC_000011.10:47413431:C:T p.(Ala190=) NC_000011.10:47413431:C:T Identity +NM_001363227.2:c.1326C>T NP_001350156.1:p.Ile442= NC_000008.11:43192378:C:T p.(Ile442=) NC_000008.11:43192378:C:T p.(Ile442=) NC_000008.11:43192378:C:T Identity +NM_000536.4:c.1566T>G NP_000527.2:p.Leu522= NC_000011.10:36592602:A:C p.(Leu522=) NC_000011.10:36592602:A:C p.(Leu522=) NC_000011.10:36592602:A:C Identity +NM_001127713.1:c.1542G>A NP_001121185.1:p.Leu514= NC_000014.9:50628452:G:A p.(Leu514=) NC_000014.9:50628452:G:A p.(Leu514=) NC_000014.9:50628452:G:A Identity +NM_001079821.3:c.147T>C NP_001073289.2:p.His49= NC_000001.11:247418946:T:C p.(His49=) NC_000001.11:247418946:T:C p.(His49=) NC_000001.11:247418946:T:C Identity +NM_006767.4:c.1048C>T NP_006758.2:p.Leu350= NC_000022.11:20992267:C:T p.(Leu350=) NC_000022.11:20992267:C:T p.(Leu350=) NC_000022.11:20992267:C:T Identity +NM_015164.4:c.1881C>T NP_055979.2:p.Tyr627= NC_000001.11:15728316:C:T p.(Tyr627=) NC_000001.11:15728316:C:T p.(Tyr627=) NC_000001.11:15728316:C:T Identity +NM_001081955.3:c.78C>T NP_001075424.1:p.Asp26= NC_000017.11:65153441:C:T p.(Asp26=) NC_000017.11:65153441:C:T p.(Asp26=) NC_000017.11:65153441:C:T Identity +NM_001168370.2:c.3633G>A NP_001161842.2:p.Leu1211= NC_000006.12:43042909:C:T p.(Leu1211=) NC_000006.12:43042909:C:T p.(Leu1211=) NC_000006.12:43042909:C:T Identity +NM_001279353.2:c.220T>C NP_001266282.1:p.Leu74= NC_000001.11:150076270:T:C p.(Leu74=) NC_000001.11:150076270:T:C p.(Leu74=) NC_000001.11:150076270:T:C Identity +NM_000154.2:c.982C>T NP_000145.1:p.Leu328= NC_000017.11:75758334:G:A p.(Leu328=) NC_000017.11:75758334:G:A p.(Leu328=) NC_000017.11:75758334:G:A Identity +NM_000018.4:c.309A>G NP_000009.1:p.Lys103= NC_000017.11:7220796:A:G p.(Lys103=) NC_000017.11:7220796:A:G p.(Lys103=) NC_000017.11:7220796:A:G Identity +NM_024753.5:c.1854G>A NP_079029.3:p.Ser618= NC_000002.12:165917301:C:T p.(Ser618=) NC_000002.12:165917301:C:T p.(Ser618=) NC_000002.12:165917301:C:T Identity +NM_006231.4:c.6609G>A NP_006222.2:p.Leu2203= NC_000012.12:132625692:C:T p.(Leu2203=) NC_000012.12:132625692:C:T p.(Leu2203=) NC_000012.12:132625692:C:T Identity +NM_001382777.1:c.1086C>T NP_001369706.1:p.Cys362= NC_000002.12:9497150:G:A p.(Cys362=) NC_000002.12:9497150:G:A p.(Cys362=) NC_000002.12:9497150:G:A Identity +NM_000102.4:c.1509G>A NP_000093.1:p.Gln503= NC_000010.11:102830719:C:T p.(Gln503=) NC_000010.11:102830719:C:T p.(Gln503=) NC_000010.11:102830719:C:T Identity +NM_000191.3:c.339C>T NP_000182.2:p.Phe113= NC_000001.11:23816683:G:A p.(Phe113=) NC_000001.11:23816683:G:A p.(Phe113=) NC_000001.11:23816683:G:A Identity +NM_000271.5:c.798C>T NP_000262.2:p.Asp266= NC_000018.10:23560313:G:A p.(Asp266=) NC_000018.10:23560313:G:A p.(Asp266=) NC_000018.10:23560313:G:A Identity +NM_005045.4:c.1389T>G NP_005036.2:p.Thr463= NC_000007.14:103661427:A:C p.(Thr463=) NC_000007.14:103661427:A:C p.(Thr463=) NC_000007.14:103661427:A:C Identity +NM_000088.4:c.4038C>T NP_000079.2:p.Ala1346= NC_000017.11:50185987:G:A p.(Ala1346=) NC_000017.11:50185987:G:A p.(Ala1346=) NC_000017.11:50185987:G:A Identity +NM_000402.4:c.1158G>A NP_000393.4:p.Leu386= NC_000023.11:154532785:C:T p.(Leu386=) NC_000023.11:154532785:C:T p.(Leu386=) NC_000023.11:154532785:C:T Identity +NM_000028.3:c.3738A>C NP_000019.2:p.Gly1246= NC_000001.11:99910748:A:C p.(Gly1246=) NC_000001.11:99910748:A:C p.(Gly1246=) NC_000001.11:99910748:A:C Identity +NM_007123.6:c.2358G>A NP_009054.6:p.Gly786= NC_000001.11:216247035:C:T p.(Gly786=) NC_000001.11:216247035:C:T p.(Gly786=) NC_000001.11:216247035:C:T Identity +NM_001177431.1:c.1116C>T NP_001170902.1:p.Phe372= NC_000012.12:109796638:G:A p.(Phe372=) NC_000012.12:109796638:G:A p.(Phe372=) NC_000012.12:109796638:G:A Identity +NM_001193304.3:c.501C>T NP_001180233.1:p.Ser167= NC_000002.12:96254023:G:A p.(Ser167=) NC_000002.12:96254023:G:A p.(Ser167=) NC_000002.12:96254023:G:A Identity +NM_001182.5:c.1320T>C NP_001173.2:p.Asn440= NC_000005.10:126550290:A:G p.(Asn440=) NC_000005.10:126550290:A:G p.(Asn440=) NC_000005.10:126550290:A:G Identity +NM_138694.4:c.10335T>C NP_619639.3:p.Asn3445= NC_000006.12:51659790:A:G p.(Asn3445=) NC_000006.12:51659790:A:G p.(Asn3445=) NC_000006.12:51659790:A:G Identity +NM_001271620.2:c.135G>A NP_001258549.1:p.Ser45= NC_000016.10:49638836:C:T p.(Ser45=) NC_000016.10:49638836:C:T p.(Ser45=) NC_000016.10:49638836:C:T Identity +NM_021619.3:c.1077G>T NP_067632.2:p.Ala359= NC_000009.12:130681641:G:T p.(Ala359=) NC_000009.12:130681641:G:T p.(Ala359=) NC_000009.12:130681641:G:T Identity +NM_001363813.1:c.1260G>A NP_001350742.1:p.Gln420= NC_000017.11:65537775:C:T p.(Gln420=) NC_000017.11:65537775:C:T p.(Gln420=) NC_000017.11:65537775:C:T Identity +NM_000126.4:c.345C>T NP_000117.1:p.Phe115= NC_000015.10:76292436:G:A p.(Phe115=) NC_000015.10:76292436:G:A p.(Phe115=) NC_000015.10:76292436:G:A Identity +NM_000038.6:c.4107C>G NP_000029.2:p.Pro1369= NC_000005.10:112839700:C:G p.(Pro1369=) NC_000005.10:112839700:C:G p.(Pro1369=) NC_000005.10:112839700:C:G Identity +NM_001127487.2:c.4740C>T NP_001120959.1:p.Asp1580= NC_000007.14:128848794:C:T p.(Asp1580=) NC_000007.14:128848794:C:T p.(Asp1580=) NC_000007.14:128848794:C:T Identity +NM_001164665.2:c.2595C>T NP_001158137.1:p.Val865= NC_000007.14:138917030:G:A p.(Val865=) NC_000007.14:138917030:G:A p.(Val865=) NC_000007.14:138917030:G:A Identity +NM_000383.4:c.1249C>T NP_000374.1:p.Leu417= NC_000021.9:44293145:C:T p.(Leu417=) NC_000021.9:44293145:C:T p.(Leu417=) NC_000021.9:44293145:C:T Identity +NM_001385678.1:c.1428G>A NP_001372607.1:p.Leu476= NC_000019.10:4816907:C:T p.(Leu476=) NC_000019.10:4816907:C:T p.(Leu476=) NC_000019.10:4816907:C:T Identity +NM_001184751.2:c.150C>T NP_001171680.1:p.Pro50= NC_000011.10:46701519:C:T p.(Pro50=) NC_000011.10:46701519:C:T p.(Pro50=) NC_000011.10:46701519:C:T Identity +NM_001160227.2:c.4035A>G NP_001153699.1:p.Leu1345= NC_000015.10:44596909:T:C p.(Leu1345=) NC_000015.10:44596909:T:C p.(Leu1345=) NC_000015.10:44596909:T:C Identity +NM_017882.3:c.27C>T NP_060352.1:p.His9= NC_000015.10:68229557:G:A p.(His9=) NC_000015.10:68229557:G:A p.(His9=) NC_000015.10:68229557:G:A Identity +NM_001909.5:c.1008C>T NP_001900.1:p.Pro336= NC_000011.10:1753865:G:A p.(Pro336=) NC_000011.10:1753865:G:A p.(Pro336=) NC_000011.10:1753865:G:A Identity +NM_001164507.2:c.24918A>C NP_001157979.2:p.Thr8306= NC_000002.12:151492236:T:G p.(Thr8306=) NC_000002.12:151492236:T:G p.(Thr8306=) NC_000002.12:151492236:T:G Identity +NM_001134771.2:c.2718C>T NP_001128243.1:p.Arg906= NC_000020.11:46053678:C:T p.(Arg906=) NC_000020.11:46053678:C:T p.(Arg906=) NC_000020.11:46053678:C:T Identity +NM_001317924.2:c.315T>C NP_001304853.1:p.Gly105= NC_000004.12:39205640:T:C p.(Gly105=) NC_000004.12:39205640:T:C p.(Gly105=) NC_000004.12:39205640:T:C Identity +NM_000360.4:c.21C>A NP_000351.2:p.Thr7= NC_000011.10:2171765:G:T p.(Thr7=) NC_000011.10:2171765:G:T p.(Thr7=) NC_000011.10:2171765:G:T Identity +NM_001369369.1:c.936C>T NP_001356298.1:p.Pro312= NC_000017.11:28534338:C:T p.(Pro312=) NC_000017.11:28534338:C:T p.(Pro312=) NC_000017.11:28534338:C:T Identity +NM_001378454.1:c.5025C>T NP_001365383.1:p.Tyr1675= NC_000002.12:73451551:C:T p.(Tyr1675=) NC_000002.12:73451551:C:T p.(Tyr1675=) NC_000002.12:73451551:C:T Identity +NM_015243.3:c.1602G>A NP_056058.2:p.Gly534= NC_000008.11:99136702:G:A p.(Gly534=) NC_000008.11:99136702:G:A p.(Gly534=) NC_000008.11:99136702:G:A Identity +NM_005732.4:c.1035A>G NP_005723.2:p.Glu345= NC_000005.10:132588072:A:G p.(Glu345=) NC_000005.10:132588072:A:G p.(Glu345=) NC_000005.10:132588072:A:G Identity +NM_004813.4:c.711G>A NP_004804.2:p.Leu237= NC_000011.10:45914186:C:T p.(Leu237=) NC_000011.10:45914186:C:T p.(Leu237=) NC_000011.10:45914186:C:T Identity +NM_001278666.2:c.675G>A NP_001265595.1:p.Lys225= NC_000006.12:57190499:C:T p.(Lys225=) NC_000006.12:57190499:C:T p.(Lys225=) NC_000006.12:57190499:C:T Identity +NM_001256850.1:c.36048A>G NP_001243779.1:p.Arg12016= NC_000002.12:178636755:T:C p.(Arg12016=) NC_000002.12:178636755:T:C p.(Arg12016=) NC_000002.12:178636755:T:C Identity +NM_152443.3:c.507G>C NP_689656.2:p.Arg169= NC_000014.9:67727038:G:C p.(Arg169=) NC_000014.9:67727038:G:C p.(Arg169=) NC_000014.9:67727038:G:C Identity +NM_000843.4:c.831C>T NP_000834.2:p.Ile277= NC_000005.10:178991449:G:A p.(Ile277=) NC_000005.10:178991449:G:A p.(Ile277=) NC_000005.10:178991449:G:A Identity +NM_001291860.2:c.10629C>T NP_001278789.1:p.Ile3543= NC_000001.11:21834772:G:A p.(Ile3543=) NC_000001.11:21834772:G:A p.(Ile3543=) NC_000001.11:21834772:G:A Identity +NM_001193640.2:c.183T>C NP_001180569.1:p.Asn61= NC_000001.11:197328533:T:C p.(Asn61=) NC_000001.11:197328533:T:C p.(Asn61=) NC_000001.11:197328533:T:C Identity +NM_001164507.2:c.12753A>G NP_001157979.2:p.Lys4251= NC_000002.12:151604865:T:C p.(Lys4251=) NC_000002.12:151604865:T:C p.(Lys4251=) NC_000002.12:151604865:T:C Identity +NM_032119.4:c.14967A>G NP_115495.3:p.Gln4989= NC_000005.10:90807731:A:G p.(Gln4989=) NC_000005.10:90807731:A:G p.(Gln4989=) NC_000005.10:90807731:A:G Identity +NM_001258214.1:c.973_975dup NP_001245143.1:p.Leu325dup NC_000001.11:67338637:TTA:TTATTA p.(Leu325dup) NC_000001.11:67338637:TTA:TTATTA p.(Leu325dup) ERR:SPDI Identity +NM_032119.4:c.18651C>T NP_115495.3:p.Ser6217= NC_000005.10:91153246:C:T p.(Ser6217=) NC_000005.10:91153246:C:T p.(Ser6217=) NC_000005.10:91153246:C:T Identity +NM_001363813.1:c.1530G>T NP_001350742.1:p.Thr510= NC_000017.11:65537505:C:A p.(Thr510=) NC_000017.11:65537505:C:A p.(Thr510=) NC_000017.11:65537505:C:A Identity +NM_001278055.2:c.552T>C NP_001264984.1:p.Phe184= NC_000013.11:23355618:A:G p.(Phe184=) NC_000013.11:23355618:A:G p.(Phe184=) NC_000013.11:23355618:A:G Identity +NM_000283.4:c.423C>T NP_000274.3:p.His141= NC_000004.12:626048:C:T p.(His141=) NC_000004.12:626048:C:T p.(His141=) NC_000004.12:626048:C:T Identity +NM_024105.4:c.912C>T NP_077010.1:p.Leu304= NC_000022.11:49907800:G:A p.(Leu304=) NC_000022.11:49907800:G:A p.(Leu304=) NC_000022.11:49907800:G:A Identity +NM_005477.3:c.3579G>A NP_005468.1:p.Glu1193= NC_000015.10:73322513:C:T p.(Glu1193=) NC_000015.10:73322513:C:T p.(Glu1193=) NC_000015.10:73322513:C:T Identity +NM_000089.4:c.1443C>G NP_000080.2:p.Gly481= NC_000007.14:94412621:C:G p.(Gly481=) NC_000007.14:94412621:C:G p.(Gly481=) NC_000007.14:94412621:C:G Identity +NM_000702.4:c.1245G>A NP_000693.1:p.Thr415= NC_000001.11:160129007:G:A p.(Thr415=) NC_000001.11:160129007:G:A p.(Thr415=) NC_000001.11:160129007:G:A Identity +NM_138694.4:c.9861C>T NP_619639.3:p.Cys3287= NC_000006.12:51746857:G:A p.(Cys3287=) NC_000006.12:51746857:G:A p.(Cys3287=) NC_000006.12:51746857:G:A Identity +NM_001164277.2:c.390G>A NP_001157749.1:p.Glu130= NC_000011.10:119027863:C:T p.(Glu130=) NC_000011.10:119027863:C:T p.(Glu130=) NC_000011.10:119027863:C:T Identity +NM_000441.2:c.1287G>A NP_000432.1:p.Ala429= NC_000007.14:107694425:G:A p.(Ala429=) NC_000007.14:107694425:G:A p.(Ala429=) NC_000007.14:107694425:G:A Identity +NM_002437.5:c.396C>T NP_002428.1:p.Ile132= NC_000002.12:27312225:G:A p.(Ile132=) NC_000002.12:27312225:G:A p.(Ile132=) NC_000002.12:27312225:G:A Identity +NM_000153.4:c.72G>C NP_000144.2:p.Ala24= NC_000014.9:87993092:C:G p.(Ala24=) NC_000014.9:87993092:C:G p.(Ala24=) NC_000014.9:87993092:C:G Identity +NM_015346.4:c.2724T>A NP_056161.2:p.Thr908= NC_000014.9:67790602:A:T p.(Thr908=) NC_000014.9:67790602:A:T p.(Thr908=) NC_000014.9:67790602:A:T Identity +NM_000117.3:c.456C>T NP_000108.1:p.Arg152= NC_000023.11:154380887:C:T p.(Arg152=) NC_000023.11:154380887:C:T p.(Arg152=) NC_000023.11:154380887:C:T Identity +NM_000521.4:c.1281C>T NP_000512.2:p.Ser427= NC_000005.10:74718834:C:T p.(Ser427=) NC_000005.10:74718834:C:T p.(Ser427=) NC_000005.10:74718834:C:T Identity +NM_005562.3:c.2811A>G NP_005553.2:p.Ala937= NC_000001.11:183238362:A:G p.(Ala937=) NC_000001.11:183238362:A:G p.(Ala937=) NC_000001.11:183238362:A:G Identity +NM_001330454.2:c.15C>T NP_001317383.1:p.Asp5= NC_000016.10:3501081:C:T p.(Asp5=) NC_000016.10:3501081:C:T p.(Asp5=) NC_000016.10:3501081:C:T Identity +NM_001330588.2:c.2937A>G NP_001317517.1:p.Glu979= NC_000013.11:102649470:A:G p.(Glu979=) NC_000013.11:102649470:A:G p.(Glu979=) NC_000013.11:102649470:A:G Identity +NM_000456.3:c.600T>C NP_000447.2:p.Pro200= NC_000012.12:56003988:T:C p.(Pro200=) NC_000012.12:56003988:T:C p.(Pro200=) NC_000012.12:56003988:T:C Identity +NM_003742.4:c.1512G>A NP_003733.2:p.Glu504= NC_000002.12:168971972:C:T p.(Glu504=) NC_000002.12:168971972:C:T p.(Glu504=) NC_000002.12:168971972:C:T Identity +NM_000051.4:c.4443T>C NP_000042.3:p.Ser1481= NC_000011.10:108292624:T:C p.(Ser1481=) NC_000011.10:108292624:T:C p.(Ser1481=) NC_000011.10:108292624:T:C Identity +NM_015102.5:c.294C>T NP_055917.1:p.His98= NC_000001.11:5969244:G:A p.(His98=) NC_000001.11:5969244:G:A p.(His98=) NC_000001.11:5969244:G:A Identity +NM_020461.4:c.1440C>T NP_065194.3:p.Gly480= NC_000022.11:50227049:G:A p.(Gly480=) NC_000022.11:50227049:G:A p.(Gly480=) NC_000022.11:50227049:G:A Identity +NM_000541.5:c.444G>C NP_000532.2:p.Gly148= NC_000002.12:233327128:G:C p.(Gly148=) NC_000002.12:233327128:G:C p.(Gly148=) NC_000002.12:233327128:G:C Identity +NM_001184985.2:c.1983C>T NP_001171914.1:p.Ser661= NC_000012.12:862113:C:T p.(Ser661=) NC_000012.12:862113:C:T p.(Ser661=) NC_000012.12:862113:C:T Identity +NM_001160227.2:c.1227A>G NP_001153699.1:p.Pro409= NC_000015.10:44651719:T:C p.(Pro409=) NC_000015.10:44651719:T:C p.(Pro409=) NC_000015.10:44651719:T:C Identity +NM_001005407.2:c.1944G>A NP_001005407.1:p.Pro648= NC_000016.10:1202393:G:A p.(Pro648=) NC_000016.10:1202393:G:A p.(Pro648=) NC_000016.10:1202393:G:A Identity +NM_000080.4:c.1029C>T NP_000071.1:p.Arg343= NC_000017.11:4899470:G:A p.(Arg343=) NC_000017.11:4899470:G:A p.(Arg343=) NC_000017.11:4899470:G:A Identity +NM_138694.4:c.4770C>T NP_619639.3:p.Leu1590= NC_000006.12:52025039:G:A p.(Leu1590=) NC_000006.12:52025039:G:A p.(Leu1590=) NC_000006.12:52025039:G:A Identity +NM_001251987.2:c.1368G>A NP_001238916.1:p.Glu456= NC_000006.12:123352542:C:T p.(Glu456=) NC_000006.12:123352542:C:T p.(Glu456=) NC_000006.12:123352542:C:T Identity +NM_022124.6:c.4443G>A NP_071407.4:p.Val1481= NC_000010.11:71739726:G:A p.(Val1481=) NC_000010.11:71739726:G:A p.(Val1481=) NC_000010.11:71739726:G:A Identity +NM_001040142.2:c.3819C>T NP_001035232.1:p.Ala1273= NC_000002.12:165370268:C:T p.(Ala1273=) NC_000002.12:165370268:C:T p.(Ala1273=) NC_000002.12:165370268:C:T Identity +NM_001005373.4:c.1773G>A NP_001005373.1:p.Ala591= NC_000009.12:127496037:G:A p.(Ala591=) NC_000009.12:127496037:G:A p.(Ala591=) NC_000009.12:127496037:G:A Identity +NM_006231.4:c.442T>C NP_006222.2:p.Leu148= NC_000012.12:132679632:A:G p.(Leu148=) NC_000012.12:132679632:A:G p.(Leu148=) NC_000012.12:132679632:A:G Identity +NM_000215.4:c.1140C>T NP_000206.2:p.Ile380= NC_000019.10:17841390:G:A p.(Ile380=) NC_000019.10:17841390:G:A p.(Ile380=) NC_000019.10:17841390:G:A Identity +NM_001144769.5:c.6114T>G NP_001138241.1:p.Leu2038= NC_000006.12:56593917:A:C p.(Leu2038=) NC_000006.12:56593917:A:C p.(Leu2038=) NC_000006.12:56593917:A:C Identity +NM_004501.3:c.870T>C NP_004492.2:p.Ser290= NC_000001.11:244860424:A:G p.(Ser290=) NC_000001.11:244860424:A:G p.(Ser290=) NC_000001.11:244860424:A:G Identity +NM_004946.3:c.2790C>T NP_004937.1:p.His930= NC_000005.10:169840842:C:T p.(His930=) NC_000005.10:169840842:C:T p.(His930=) NC_000005.10:169840842:C:T Identity +NM_000455.5:c.912G>T NP_000446.1:p.Arg304= NC_000019.10:1221997:G:T p.(Arg304=) NC_000019.10:1221997:G:T p.(Arg304=) NC_000019.10:1221997:G:T Identity +NM_000018.4:c.1695G>T NP_000009.1:p.Leu565= NC_000017.11:7224657:G:T p.(Leu565=) NC_000017.11:7224657:G:T p.(Leu565=) NC_000017.11:7224657:G:T Identity +NM_015512.5:c.11853C>T NP_056327.4:p.Asp3951= NC_000003.12:52397771:C:T p.(Asp3951=) NC_000003.12:52397771:C:T p.(Asp3951=) NC_000003.12:52397771:C:T Identity +NM_000243.3:c.789A>G NP_000234.1:p.Leu263= NC_000016.10:3254278:T:C p.(Leu263=) NC_000016.10:3254278:T:C p.(Leu263=) NC_000016.10:3254278:T:C Identity +NM_000033.4:c.747C>T NP_000024.2:p.Leu249= NC_000023.11:153726012:C:T p.(Leu249=) NC_000023.11:153726012:C:T p.(Leu249=) NC_000023.11:153726012:C:T Identity +NM_000171.4:c.54C>T NP_000162.2:p.Phe18= NC_000005.10:151924495:G:A p.(Phe18=) NC_000005.10:151924495:G:A p.(Phe18=) NC_000005.10:151924495:G:A Identity +NM_001178129.2:c.1647G>A NP_001171600.1:p.Ala549= NC_000007.14:83385341:C:T p.(Ala549=) NC_000007.14:83385341:C:T p.(Ala549=) NC_000007.14:83385341:C:T Identity +NM_001164281.3:c.1185T>C NP_001157753.1:p.Asn395= NC_000006.12:111575658:A:G p.(Asn395=) NC_000006.12:111575658:A:G p.(Asn395=) NC_000006.12:111575658:A:G Identity +NM_005045.4:c.4353C>T NP_005036.2:p.Phe1451= NC_000007.14:103574249:G:A p.(Phe1451=) NC_000007.14:103574249:G:A p.(Phe1451=) NC_000007.14:103574249:G:A Identity +NM_020533.3:c.639A>G NP_065394.1:p.Glu213= NC_000019.10:7527586:A:G p.(Glu213=) NC_000019.10:7527586:A:G p.(Glu213=) NC_000019.10:7527586:A:G Identity +NM_001166111.2:c.345G>A NP_001159583.1:p.Val115= NC_000019.10:7536450:G:A p.(Val115=) NC_000019.10:7536450:G:A p.(Val115=) NC_000019.10:7536450:G:A Identity +NM_006623.4:c.375G>A NP_006614.2:p.Thr125= NC_000001.11:119726868:G:A p.(Thr125=) NC_000001.11:119726868:G:A p.(Thr125=) NC_000001.11:119726868:G:A Identity +NM_002334.4:c.1668C>T NP_002325.2:p.Pro556= NC_000011.10:46893001:G:A p.(Pro556=) NC_000011.10:46893001:G:A p.(Pro556=) NC_000011.10:46893001:G:A Identity +NM_000059.4:c.1206T>A NP_000050.3:p.Gly402= NC_000013.11:32332683:T:A p.(Gly402=) NC_000013.11:32332683:T:A p.(Gly402=) NC_000013.11:32332683:T:A Identity +NM_000484.4:c.1722T>C NP_000475.1:p.Asp574= NC_000021.9:25911927:A:G p.(Asp574=) NC_000021.9:25911927:A:G p.(Asp574=) NC_000021.9:25911927:A:G Identity +NM_001279353.2:c.957T>C NP_001266282.1:p.Ser319= NC_000001.11:150092309:T:C p.(Ser319=) NC_000001.11:150092309:T:C p.(Ser319=) NC_000001.11:150092309:T:C Identity +NM_004268.5:c.1620C>T NP_004259.3:p.Leu540= NC_000011.10:93809751:C:T p.(Leu540=) NC_000011.10:93809751:C:T p.(Leu540=) NC_000011.10:93809751:C:T Identity +NM_020949.3:c.2097T>C NP_066000.2:p.Asp699= NC_000003.12:170467273:A:G p.(Asp699=) NC_000003.12:170467273:A:G p.(Asp699=) NC_000003.12:170467273:A:G Identity +NM_015243.3:c.504C>T NP_056058.2:p.Val168= NC_000008.11:99103043:C:T p.(Val168=) NC_000008.11:99103043:C:T p.(Val168=) NC_000008.11:99103043:C:T Identity +NM_004369.4:c.4389T>G NP_004360.2:p.Val1463= NC_000002.12:237369073:A:C p.(Val1463=) NC_000002.12:237369073:A:C p.(Val1463=) NC_000002.12:237369073:A:C Identity +NM_018190.4:c.876C>A NP_060660.2:p.Ile292= NC_000004.12:121848901:G:T p.(Ile292=) NC_000004.12:121848901:G:T p.(Ile292=) NC_000004.12:121848901:G:T Identity +NM_001267727.2:c.207G>A NP_001254656.1:p.Ser69= NC_000017.11:68307699:G:A p.(Ser69=) NC_000017.11:68307699:G:A p.(Ser69=) NC_000017.11:68307699:G:A Identity +NM_001482.3:c.210C>T NP_001473.1:p.Asn70= NC_000015.10:45376678:G:A p.(Asn70=) NC_000015.10:45376678:G:A p.(Asn70=) NC_000015.10:45376678:G:A Identity +NM_001145472.3:c.2610C>T NP_001138944.1:p.Phe870= NC_000018.10:46489077:G:A p.(Phe870=) NC_000018.10:46489077:G:A p.(Phe870=) NC_000018.10:46489077:G:A Identity +NM_001035507.3:c.1335C>T NP_001030584.1:p.Tyr445= NC_000002.12:27056107:C:T p.(Tyr445=) NC_000002.12:27056107:C:T p.(Tyr445=) NC_000002.12:27056107:C:T Identity +NM_001164507.2:c.23667A>G NP_001157979.2:p.Ala7889= NC_000002.12:151505552:T:C p.(Ala7889=) NC_000002.12:151505552:T:C p.(Ala7889=) NC_000002.12:151505552:T:C Identity +NM_001289155.2:c.771G>A NP_001276084.1:p.Leu257= NC_000015.10:74896251:G:A p.(Leu257=) NC_000015.10:74896251:G:A p.(Leu257=) NC_000015.10:74896251:G:A Identity +NM_001122606.1:c.1068T>C NP_001116078.1:p.Asn356= NC_000023.11:120441754:A:G p.(Asn356=) NC_000023.11:120441754:A:G p.(Asn356=) NC_000023.11:120441754:A:G Identity +NM_005732.4:c.3894G>A NP_005723.2:p.Glu1298= NC_000005.10:132642318:G:A p.(Glu1298=) NC_000005.10:132642318:G:A p.(Glu1298=) NC_000005.10:132642318:G:A Identity +NM_153006.3:c.837G>A NP_694551.1:p.Ala279= NC_000017.11:44006158:G:A p.(Ala279=) NC_000017.11:44006158:G:A p.(Ala279=) NC_000017.11:44006158:G:A Identity +NM_000920.4:c.1930C>A NP_000911.2:p.Arg644= NC_000011.10:66851841:G:T p.(Arg644=) NC_000011.10:66851841:G:T p.(Arg644=) NC_000011.10:66851841:G:T Identity +NM_000445.5:c.513C>T NP_000436.2:p.Phe171= NC_000008.11:143936981:G:A p.(Phe171=) NC_000008.11:143936981:G:A p.(Phe171=) NC_000008.11:143936981:G:A Identity +NM_001282424.3:c.2175G>A NP_001269353.2:p.Ala725= NC_000012.12:8863938:G:A p.(Ala725=) NC_000012.12:8863938:G:A p.(Ala725=) NC_000012.12:8863938:G:A Identity +NM_015180.6:c.4380T>G NP_055995.4:p.Val1460= NC_000014.9:64003312:T:G p.(Val1460=) NC_000014.9:64003312:T:G p.(Val1460=) NC_000014.9:64003312:T:G Identity +NM_001031847.3:c.1335C>T NP_001027017.1:p.His445= NC_000011.10:68781787:G:A p.(His445=) NC_000011.10:68781787:G:A p.(His445=) NC_000011.10:68781787:G:A Identity +NM_000481.4:c.42C>T NP_000472.2:p.Arg14= NC_000003.12:49422408:G:A p.(Arg14=) NC_000003.12:49422408:G:A p.(Arg14=) NC_000003.12:49422408:G:A Identity +NM_001144881.2:c.804C>T NP_001138353.1:p.Asp268= NC_000012.12:42465229:G:A p.(Asp268=) NC_000012.12:42465229:G:A p.(Asp268=) NC_000012.12:42465229:G:A Identity +NM_000520.6:c.768G>A NP_000511.2:p.Glu256= NC_000015.10:72350554:C:T p.(Glu256=) NC_000015.10:72350554:C:T p.(Glu256=) NC_000015.10:72350554:C:T Identity +NM_001379200.1:c.1446C>T NP_001366129.1:p.Ala482= NC_000022.11:19766797:C:T p.(Ala482=) NC_000022.11:19766797:C:T p.(Ala482=) NC_000022.11:19766797:C:T Identity +NM_001114182.3:c.702A>T NP_001107654.1:p.Ile234= NC_000012.12:43774014:A:T p.(Ile234=) NC_000012.12:43774014:A:T p.(Ile234=) NC_000012.12:43774014:A:T Identity +NM_001256850.1:c.42105T>C NP_001243779.1:p.Leu14035= NC_000002.12:178618429:A:G p.(Leu14035=) NC_000002.12:178618429:A:G p.(Leu14035=) NC_000002.12:178618429:A:G Identity +NM_025216.3:c.1161G>T NP_079492.2:p.Thr387= NC_000002.12:218893177:G:T p.(Thr387=) NC_000002.12:218893177:G:T p.(Thr387=) NC_000002.12:218893177:G:T Identity +NM_000137.4:c.876C>G NP_000128.1:p.Pro292= NC_000015.10:80175053:C:G p.(Pro292=) NC_000015.10:80175053:C:G p.(Pro292=) NC_000015.10:80175053:C:G Identity +NM_001111.5:c.171T>C NP_001102.3:p.Ile57= NC_000001.11:154602470:A:G p.(Ile57=) NC_000001.11:154602470:A:G p.(Ile57=) NC_000001.11:154602470:A:G Identity +NM_199242.3:c.228G>A NP_954712.1:p.Thr76= NC_000017.11:75843191:C:T p.(Thr76=) NC_000017.11:75843191:C:T p.(Thr76=) NC_000017.11:75843191:C:T Identity +NM_024529.5:c.1287C>T NP_078805.3:p.Asp429= NC_000001.11:193233124:C:T p.(Asp429=) NC_000001.11:193233124:C:T p.(Asp429=) NC_000001.11:193233124:C:T Identity +NM_000251.3:c.765T>C NP_000242.1:p.Ser255= NC_000002.12:47412532:T:C p.(Ser255=) NC_000002.12:47412532:T:C p.(Ser255=) NC_000002.12:47412532:T:C Identity +NM_013339.4:c.921G>A NP_037471.2:p.Leu307= NC_000001.11:63415890:G:A p.(Leu307=) NC_000001.11:63415890:G:A p.(Leu307=) NC_000001.11:63415890:G:A Identity +NM_006269.2:c.1527A>C NP_006260.1:p.Ser509= NC_000008.11:54625408:A:C p.(Ser509=) NC_000008.11:54625408:A:C p.(Ser509=) NC_000008.11:54625408:A:C Identity +NM_000245.4:c.1302C>T NP_000236.2:p.Phe434= NC_000007.14:116731768:C:T p.(Phe434=) NC_000007.14:116731768:C:T p.(Phe434=) NC_000007.14:116731768:C:T Identity +NM_001098802.3:c.810T>C NP_001092272.1:p.Asn270= NC_000009.12:78246699:T:C p.(Asn270=) NC_000009.12:78246699:T:C p.(Asn270=) NC_000009.12:78246699:T:C Identity +NM_001378454.1:c.2847A>G NP_001365383.1:p.Thr949= NC_000002.12:73449373:A:G p.(Thr949=) NC_000002.12:73449373:A:G p.(Thr949=) NC_000002.12:73449373:A:G Identity +NM_052845.4:c.60G>T NP_443077.1:p.Gly20= NC_000012.12:109573420:C:A p.(Gly20=) NC_000012.12:109573420:C:A p.(Gly20=) NC_000012.12:109573420:C:A Identity +NM_001142763.2:c.4452A>G NP_001136235.1:p.Lys1484= NC_000010.11:53823294:T:C p.(Lys1484=) NC_000010.11:53823294:T:C p.(Lys1484=) NC_000010.11:53823294:T:C Identity +NM_001382394.1:c.2583T>C NP_001369323.1:p.Phe861= NC_000002.12:39007099:A:G p.(Phe861=) NC_000002.12:39007099:A:G p.(Phe861=) NC_000002.12:39007099:A:G Identity +NM_000069.3:c.2874C>T NP_000060.2:p.Thr958= NC_000001.11:201062493:G:A p.(Thr958=) NC_000001.11:201062493:G:A p.(Thr958=) NC_000001.11:201062493:G:A Identity +NM_001330588.2:c.2904T>C NP_001317517.1:p.Tyr968= NC_000013.11:102649437:T:C p.(Tyr968=) NC_000013.11:102649437:T:C p.(Tyr968=) NC_000013.11:102649437:T:C Identity +NM_000388.4:c.567T>C NP_000379.3:p.Asn189= NC_000003.12:122261601:T:C p.(Asn189=) NC_000003.12:122261601:T:C p.(Asn189=) NC_000003.12:122261601:T:C Identity +NM_001164507.2:c.8128T>C NP_001157979.2:p.Leu2710= NC_000002.12:151643181:A:G p.(Leu2710=) NC_000002.12:151643181:A:G p.(Leu2710=) NC_000002.12:151643181:A:G Identity +NM_001144964.1:c.1567C>T NP_001138436.1:p.Leu523= NC_000018.10:58366094:C:T p.(Leu523=) NC_000018.10:58366094:C:T p.(Leu523=) NC_000018.10:58366094:C:T Identity +NM_001144769.5:c.12873A>G NP_001138241.1:p.Glu4291= NC_000006.12:56508537:T:C p.(Glu4291=) NC_000006.12:56508537:T:C p.(Glu4291=) NC_000006.12:56508537:T:C Identity +NM_001163817.2:c.888C>T NP_001157289.1:p.Asp296= NC_000011.10:71437886:G:A p.(Asp296=) NC_000011.10:71437886:G:A p.(Asp296=) NC_000011.10:71437886:G:A Identity +NM_001042399.2:c.961C>T NP_001035858.1:p.Leu321= NC_000012.12:94370008:G:A p.(Leu321=) NC_000012.12:94370008:G:A p.(Leu321=) NC_000012.12:94370008:G:A Identity +NM_014244.5:c.1377C>T NP_055059.2:p.Tyr459= NC_000005.10:179154053:G:A p.(Tyr459=) NC_000005.10:179154053:G:A p.(Tyr459=) NC_000005.10:179154053:G:A Identity +NM_000052.7:c.2319C>A NP_000043.4:p.Ala773= NC_000023.11:78013024:C:A p.(Ala773=) NC_000023.11:78013024:C:A p.(Ala773=) NC_000023.11:78013024:C:A Identity +NM_001193640.2:c.2796A>G NP_001180569.1:p.Pro932= NC_000001.11:197434994:A:G p.(Pro932=) NC_000001.11:197434994:A:G p.(Pro932=) NC_000001.11:197434994:A:G Identity +NM_000019.4:c.627T>C NP_000010.1:p.Asn209= NC_000011.10:108140111:T:C p.(Asn209=) NC_000011.10:108140111:T:C p.(Asn209=) NC_000011.10:108140111:T:C Identity +NM_020451.3:c.558C>T NP_065184.2:p.Ser186= NC_000001.11:25808599:C:T p.(Ser186=) NC_000001.11:25808599:C:T p.? NC_000001.11:25808599:C:T Identity +NM_001081640.2:c.11160C>T NP_001075109.1:p.Ala3720= NC_000008.11:47783756:G:A p.(Ala3720=) NC_000008.11:47783756:G:A p.(Ala3720=) NC_000008.11:47783756:G:A Identity +NM_016955.4:c.669T>G NP_058651.3:p.Thr223= NC_000004.12:25155029:A:C p.(Thr223=) NC_000004.12:25155029:A:C p.(Thr223=) NC_000004.12:25155029:A:C Identity +NM_000102.4:c.796C>T NP_000093.1:p.Leu266= NC_000010.11:102833165:G:A p.(Leu266=) NC_000010.11:102833165:G:A p.(Leu266=) NC_000010.11:102833165:G:A Identity +NM_001142763.2:c.2673A>C NP_001136235.1:p.Pro891= NC_000010.11:54020284:T:G p.(Pro891=) NC_000010.11:54020284:T:G p.(Pro891=) NC_000010.11:54020284:T:G Identity +NM_000124.4:c.2865G>A NP_000115.1:p.Lys955= NC_000010.11:49472434:C:T p.(Lys955=) NC_000010.11:49472434:C:T p.(Lys955=) NC_000010.11:49472434:C:T Identity +NM_001044.5:c.444C>T NP_001035.1:p.Ile148= NC_000005.10:1432672:G:A p.(Ile148=) NC_000005.10:1432672:G:A p.(Ile148=) NC_000005.10:1432672:G:A Identity +NM_001130066.2:c.2118A>G NP_001123538.1:p.Glu706= NC_000006.12:33441582:A:G p.(Glu706=) NC_000006.12:33441582:A:G p.(Glu706=) NC_000006.12:33441582:A:G Identity +NM_000462.5:c.816G>A NP_000453.2:p.Thr272= NC_000015.10:25371366:C:T p.(Thr272=) NC_000015.10:25371366:C:T p.(Thr272=) NC_000015.10:25371366:C:T Identity +NM_000053.4:c.3858C>T NP_000044.2:p.Thr1286= NC_000013.11:51937520:G:A p.(Thr1286=) NC_000013.11:51937520:G:A p.(Thr1286=) NC_000013.11:51937520:G:A Identity +NM_001031847.3:c.2010G>A NP_001027017.1:p.Glu670= NC_000011.10:68761552:C:T p.(Glu670=) NC_000011.10:68761552:C:T p.(Glu670=) NC_000011.10:68761552:C:T Identity +NM_001142763.2:c.4530G>A NP_001136235.1:p.Lys1510= NC_000010.11:53823216:C:T p.(Lys1510=) NC_000010.11:53823216:C:T p.(Lys1510=) NC_000010.11:53823216:C:T Identity +NM_001363729.2:c.795T>C NP_001350658.1:p.Ile265= NC_000020.11:36919420:A:G p.(Ile265=) NC_000020.11:36919420:A:G p.(Ile265=) NC_000020.11:36919420:A:G Identity +NM_001103.4:c.1056G>A NP_001094.1:p.Leu352= NC_000001.11:236739480:G:A p.(Leu352=) NC_000001.11:236739480:G:A p.(Leu352=) NC_000001.11:236739480:G:A Identity +NM_003680.4:c.213T>A NP_003671.1:p.Ile71= NC_000001.11:32810757:A:T p.(Ile71=) NC_000001.11:32810757:A:T p.(Ile71=) NC_000001.11:32810757:A:T Identity +NM_001365999.1:c.8175G>A NP_001352928.1:p.Pro2725= NC_000001.11:43442841:G:A p.(Pro2725=) NC_000001.11:43442841:G:A p.(Pro2725=) NC_000001.11:43442841:G:A Identity +NM_001127487.2:c.2691C>T NP_001120959.1:p.Ala897= NC_000007.14:128843456:C:T p.(Ala897=) NC_000007.14:128843456:C:T p.(Ala897=) NC_000007.14:128843456:C:T Identity +NM_001302960.2:c.90T>C NP_001289889.1:p.Asp30= NC_000011.10:67483247:T:C p.(Asp30=) NC_000011.10:67483247:T:C p.(Asp30=) NC_000011.10:67483247:T:C Identity +NM_003183.6:c.255A>G NP_003174.3:p.Ser85= NC_000002.12:9536803:T:C p.(Ser85=) NC_000002.12:9536803:T:C p.(Ser85=) NC_000002.12:9536803:T:C Identity +NM_000227.6:c.5112C>T NP_000218.3:p.Val1704= NC_000018.10:23954584:C:T p.(Val1704=) NC_000018.10:23954584:C:T p.(Val1704=) NC_000018.10:23954584:C:T Identity +NM_001127487.2:c.3114G>T NP_001120959.1:p.Val1038= NC_000007.14:128844187:G:T p.(Val1038=) NC_000007.14:128844187:G:T p.(Val1038=) NC_000007.14:128844187:G:T Identity +NM_004064.5:c.45G>C NP_004055.1:p.Arg15= NC_000012.12:12717883:G:C p.(Arg15=) NC_000012.12:12717883:G:C p.(Arg15=) NC_000012.12:12717883:G:C Identity +NM_000272.5:c.291G>A NP_000263.2:p.Gln97= NC_000002.12:110178460:C:T p.(Gln97=) NC_000002.12:110178460:C:T p.(Gln97=) NC_000002.12:110178460:C:T Identity +NM_001195286.2:c.975G>A NP_001182215.1:p.Ala325= NC_000006.12:401655:G:A p.(Ala325=) NC_000006.12:401655:G:A p.(Ala325=) NC_000006.12:401655:G:A Identity +NM_000109.4:c.108A>G NP_000100.3:p.Leu36= NC_000023.11:32849781:T:C p.(Leu36=) NC_000023.11:32849781:T:C p.(Leu36=) NC_000023.11:32849781:T:C Identity +NM_001079812.3:c.2001C>T NP_001073280.1:p.Pro667= NC_000005.10:141573821:G:A p.(Pro667=) NC_000005.10:141573821:G:A p.(Pro667=) NC_000005.10:141573821:G:A Identity +NM_001353765.2:c.1209G>A NP_001340694.1:p.Val403= NC_000002.12:29193673:C:T p.(Val403=) NC_000002.12:29193673:C:T p.(Val403=) NC_000002.12:29193673:C:T Identity +NM_000441.2:c.1860T>C NP_000432.1:p.Asp620= NC_000007.14:107701882:T:C p.(Asp620=) NC_000007.14:107701882:T:C p.(Asp620=) NC_000007.14:107701882:T:C Identity +NM_015702.3:c.822A>G NP_056517.1:p.Val274= NC_000002.12:149570042:T:C p.(Val274=) NC_000002.12:149570042:T:C p.(Val274=) NC_000002.12:149570042:T:C Identity +NM_001166136.2:c.2016G>T NP_001159608.1:p.Arg672= NC_000004.12:5622781:C:A p.(Arg672=) NC_000004.12:5622781:C:A p.(Arg672=) NC_000004.12:5622781:C:A Identity +NM_001382.4:c.1158G>A NP_001373.2:p.Leu386= NC_000011.10:119097144:C:T p.(Leu386=) NC_000011.10:119097144:C:T p.(Leu386=) NC_000011.10:119097144:C:T Identity +NM_001164098.2:c.3453A>G NP_001157570.1:p.Thr1151= NC_000005.10:83521758:A:G p.(Thr1151=) NC_000005.10:83521758:A:G p.(Thr1151=) NC_000005.10:83521758:A:G Identity +NM_001278055.2:c.4488T>C NP_001264984.1:p.Leu1496= NC_000013.11:23338946:A:G p.(Leu1496=) NC_000013.11:23338946:A:G p.(Leu1496=) NC_000013.11:23338946:A:G Identity +NM_000268.4:c.9G>A NP_000259.1:p.Gly3= NC_000022.11:29604006:G:A p.(Gly3=) NC_000022.11:29604006:G:A p.(Gly3=) NC_000022.11:29604006:G:A Identity +NM_001256267.2:c.3687C>T NP_001243196.1:p.Ala1229= NC_000010.11:68206796:C:T p.(Ala1229=) NC_000010.11:68206796:C:T p.(Ala1229=) NC_000010.11:68206796:C:T Identity +NM_001317034.1:c.657A>C NP_001303963.1:p.Thr219= NC_000020.11:50940875:T:G p.(Thr219=) NC_000020.11:50940875:T:G p.(Thr219=) NC_000020.11:50940875:T:G Identity +NM_001164507.2:c.21301T>C NP_001157979.2:p.Leu7101= NC_000002.12:151535701:A:G p.(Leu7101=) NC_000002.12:151535701:A:G p.(Leu7101=) NC_000002.12:151535701:A:G Identity +NM_001365536.1:c.4950G>C NP_001352465.1:p.Leu1650= NC_000002.12:166199688:C:G p.(Leu1650=) NC_000002.12:166199688:C:G p.(Leu1650=) NC_000002.12:166199688:C:G Identity +NM_022725.4:c.249C>T NP_073562.1:p.Phe83= NC_000011.10:22625561:G:A p.(Phe83=) NC_000011.10:22625561:G:A p.(Phe83=) NC_000011.10:22625561:G:A Identity +NM_000028.3:c.3123A>G NP_000019.2:p.Ser1041= NC_000001.11:99892470:A:G p.(Ser1041=) NC_000001.11:99892470:A:G p.(Ser1041=) NC_000001.11:99892470:A:G Identity +NM_001692.4:c.39C>T NP_001683.2:p.Pro13= NC_000002.12:70935992:C:T p.(Pro13=) NC_000002.12:70935992:C:T p.(Pro13=) NC_000002.12:70935992:C:T Identity +NM_024529.5:c.957A>G NP_078805.3:p.Thr319= NC_000001.11:193152428:A:G p.(Thr319=) NC_000001.11:193152428:A:G p.(Thr319=) NC_000001.11:193152428:A:G Identity +NM_000081.4:c.4221C>T NP_000072.2:p.Asn1407= NC_000001.11:235792020:G:A p.(Asn1407=) NC_000001.11:235792020:G:A p.(Asn1407=) NC_000001.11:235792020:G:A Identity +NM_001036.6:c.7941T>C NP_001027.3:p.Asn2647= NC_000015.10:33746108:T:C p.(Asn2647=) NC_000015.10:33746108:T:C p.(Asn2647=) NC_000015.10:33746108:T:C Identity +NM_017617.5:c.1842C>T NP_060087.3:p.His614= NC_000009.12:136515543:G:A p.(His614=) NC_000009.12:136515543:G:A p.(His614=) NC_000009.12:136515543:G:A Identity +NM_004004.6:c.621C>T NP_003995.2:p.Val207= NC_000013.11:20188960:G:A p.(Val207=) NC_000013.11:20188960:G:A p.(Val207=) NC_000013.11:20188960:G:A Identity +NM_206933.4:c.5904A>T NP_996816.3:p.Gly1968= NC_000001.11:216070245:T:A p.(Gly1968=) NC_000001.11:216070245:T:A p.(Gly1968=) NC_000001.11:216070245:T:A Identity +NM_001271888.2:c.237C>T NP_001258817.1:p.Phe79= NC_000015.10:78105914:G:A p.(Phe79=) NC_000015.10:78105914:G:A p.(Phe79=) NC_000015.10:78105914:G:A Identity +NM_000264.5:c.1284C>T NP_000255.2:p.Asp428= NC_000009.12:95478117:G:A p.(Asp428=) NC_000009.12:95478117:G:A p.(Asp428=) NC_000009.12:95478117:G:A Identity +NM_032888.4:c.249G>A NP_116277.2:p.Gln83= NC_000009.12:114167803:G:A p.(Gln83=) NC_000009.12:114167803:G:A p.(Gln83=) NC_000009.12:114167803:G:A Identity +NM_018941.4:c.489G>T NP_061764.2:p.Thr163= NC_000008.11:1771542:G:T p.(Thr163=) NC_000008.11:1771542:G:T p.(Thr163=) NC_000008.11:1771542:G:T Identity +NM_001100112.2:c.1605C>T NP_001093582.1:p.Ser535= NC_000017.11:10537524:G:A p.(Ser535=) NC_000017.11:10537524:G:A p.(Ser535=) NC_000017.11:10537524:G:A Identity +NM_001256850.1:c.94308T>C NP_001243779.1:p.Asn31436= NC_000002.12:178538597:A:G p.(Asn31436=) NC_000002.12:178538597:A:G p.(Asn31436=) NC_000002.12:178538597:A:G Identity +NM_001353229.2:c.609C>T NP_001340158.1:p.Ser203= NC_000017.11:17223984:G:A p.(Ser203=) NC_000017.11:17223984:G:A p.(Ser203=) NC_000017.11:17223984:G:A Identity +NM_001079866.2:c.393T>C NP_001073335.1:p.Pro131= NC_000002.12:218661477:T:C p.(Pro131=) NC_000002.12:218661477:T:C p.(Pro131=) NC_000002.12:218661477:T:C Identity +NM_000108.5:c.723A>G NP_000099.2:p.Ala241= NC_000007.14:107915543:A:G p.(Ala241=) NC_000007.14:107915543:A:G p.(Ala241=) NC_000007.14:107915543:A:G Identity +NM_001166111.2:c.973C>A NP_001159583.1:p.Arg325= NC_000019.10:7541374:C:A p.(Arg325=) NC_000019.10:7541374:C:A p.(Arg325=) NC_000019.10:7541374:C:A Identity +NM_003079.5:c.861T>C NP_003070.3:p.Ala287= NC_000017.11:40630879:A:G p.(Ala287=) NC_000017.11:40630879:A:G p.(Ala287=) NC_000017.11:40630879:A:G Identity +NM_020549.5:c.258G>C NP_065574.4:p.Ser86= NC_000010.11:49614446:G:C p.(Ser86=) NC_000010.11:49614446:G:C p.(Ser86=) NC_000010.11:49614446:G:C Identity +NM_001171933.1:c.3123G>A NP_001165404.1:p.Gly1041= NC_000010.11:71815055:G:A p.(Gly1041=) NC_000010.11:71815055:G:A p.(Gly1041=) NC_000010.11:71815055:G:A Identity +NM_016232.5:c.1575T>C NP_057316.3:p.Ser525= NC_000002.12:102351824:T:C p.(Ser525=) NC_000002.12:102351824:T:C p.(Ser525=) NC_000002.12:102351824:T:C Identity +NM_003673.4:c.354G>A NP_003664.1:p.Ala118= NC_000017.11:39665958:G:A p.(Ala118=) NC_000017.11:39665958:G:A p.(Ala118=) NC_000017.11:39665958:G:A Identity +NM_001195573.1:c.927A>G NP_001182502.1:p.Val309= NC_000014.9:95124644:T:C p.(Val309=) NC_000014.9:95124644:T:C p.(Val309=) NC_000014.9:95124644:T:C Identity +NM_001083116.3:c.273G>A NP_001076585.1:p.Ala91= NC_000010.11:70600629:C:T p.(Ala91=) NC_000010.11:70600629:C:T p.(Ala91=) NC_000010.11:70600629:C:T Identity +NM_001164665.2:c.5097C>T NP_001158137.1:p.Ala1699= NC_000007.14:138861288:G:A p.(Ala1699=) NC_000007.14:138861288:G:A p.(Ala1699=) NC_000007.14:138861288:G:A Identity +NM_012079.6:c.1329C>T NP_036211.2:p.Phe443= NC_000008.11:144316691:G:A p.(Phe443=) NC_000008.11:144316691:G:A p.(Phe443=) NC_000008.11:144316691:G:A Identity +NM_001363690.2:c.12C>T NP_001350619.1:p.Val4= NC_000001.11:113905597:C:T p.(Val4=) NC_000001.11:113905597:C:T p.(Val4=) NC_000001.11:113905597:C:T Identity +NM_206933.4:c.9771T>C NP_996816.3:p.Asn3257= NC_000001.11:215799093:A:G p.(Asn3257=) NC_000001.11:215799093:A:G p.(Asn3257=) NC_000001.11:215799093:A:G Identity +NM_000231.3:c.405C>T NP_000222.2:p.Val135= NC_000013.11:23279377:C:T p.(Val135=) NC_000013.11:23279377:C:T p.(Val135=) NC_000013.11:23279377:C:T Identity +NM_001363813.1:c.1266C>G NP_001350742.1:p.Pro422= NC_000017.11:65537769:G:C p.(Pro422=) NC_000017.11:65537769:G:C p.(Pro422=) NC_000017.11:65537769:G:C Identity +NM_001282512.3:c.801C>T NP_001269441.1:p.His267= NC_000022.11:19895554:G:A p.(His267=) NC_000022.11:19895554:G:A p.(His267=) NC_000022.11:19895554:G:A Identity +NM_000227.6:c.639C>T NP_000218.3:p.Cys213= NC_000018.10:23894910:C:T p.(Cys213=) NC_000018.10:23894910:C:T p.(Cys213=) NC_000018.10:23894910:C:T Identity +NM_001195573.1:c.1263T>C NP_001182502.1:p.Asp421= NC_000014.9:95124308:A:G p.(Asp421=) NC_000014.9:95124308:A:G p.(Asp421=) NC_000014.9:95124308:A:G Identity +NM_004260.4:c.858G>A NP_004251.4:p.Ser286= NC_000008.11:144516260:C:T p.(Ser286=) NC_000008.11:144516260:C:T p.(Ser286=) NC_000008.11:144516260:C:T Identity +NM_000411.8:c.1905T>C NP_000402.3:p.Tyr635= NC_000021.9:36756645:A:G p.(Tyr635=) NC_000021.9:36756645:A:G p.(Tyr635=) NC_000021.9:36756645:A:G Identity +NM_001166111.2:c.744C>T NP_001159583.1:p.Asp248= NC_000019.10:7540631:C:T p.(Asp248=) NC_000019.10:7540631:C:T p.(Asp248=) NC_000019.10:7540631:C:T Identity +NM_000289.6:c.1834C>T NP_000280.1:p.Leu612= NC_000012.12:48143767:C:T p.(Leu612=) NC_000012.12:48143767:C:T p.(Leu612=) NC_000012.12:48143767:C:T Identity +NM_001256850.1:c.92250C>G NP_001243779.1:p.Thr30750= NC_000002.12:178542680:G:C p.(Thr30750=) NC_000002.12:178542680:G:C p.(Thr30750=) NC_000002.12:178542680:G:C Identity +NM_199242.3:c.2331A>G NP_954712.1:p.Lys777= NC_000017.11:75834110:T:C p.(Lys777=) NC_000017.11:75834110:T:C p.(Lys777=) NC_000017.11:75834110:T:C Identity +NM_182894.3:c.184C>T NP_878314.1:p.Leu62= NC_000014.9:74239744:C:T p.(Leu62=) NC_000014.9:74239744:C:T p.(Leu62=) NC_000014.9:74239744:C:T Identity +NM_001354727.2:c.357T>C NP_001341656.1:p.Asn119= NC_000003.12:14170492:A:G p.(Asn119=) NC_000003.12:14170492:A:G p.(Asn119=) NC_000003.12:14170492:A:G Identity +NM_206933.4:c.14052C>T NP_996816.3:p.Ser4684= NC_000001.11:215671052:G:A p.(Ser4684=) NC_000001.11:215671052:G:A p.(Ser4684=) NC_000001.11:215671052:G:A Identity +NM_000052.7:c.2454A>C NP_000043.4:p.Thr818= NC_000023.11:78014708:A:C p.(Thr818=) NC_000023.11:78014708:A:C p.(Thr818=) NC_000023.11:78014708:A:C Identity +NM_001077365.2:c.1758C>T NP_001070833.1:p.Ala586= NC_000009.12:131521404:C:T p.(Ala586=) NC_000009.12:131521404:C:T p.(Ala586=) NC_000009.12:131521404:C:T Identity +NM_001134771.2:c.3030G>A NP_001128243.1:p.Pro1010= NC_000020.11:46056414:G:A p.(Pro1010=) NC_000020.11:46056414:G:A p.(Pro1010=) NC_000020.11:46056414:G:A Identity +NM_001369257.1:c.3630G>A NP_001356186.1:p.Leu1210= NC_000002.12:210656595:G:A p.(Leu1210=) NC_000002.12:210656595:G:A p.(Leu1210=) NC_000002.12:210656595:G:A Identity +NM_001378033.1:c.123C>T NP_001364962.1:p.Cys41= NC_000016.10:725152:G:A p.(Cys41=) NC_000016.10:725152:G:A p.(Cys41=) NC_000016.10:725152:G:A Identity +NM_005045.4:c.6121C>T NP_005036.2:p.Leu2041= NC_000007.14:103551247:G:A p.(Leu2041=) NC_000007.14:103551247:G:A p.(Leu2041=) NC_000007.14:103551247:G:A Identity +NM_001363813.1:c.1659G>A NP_001350742.1:p.Ser553= NC_000017.11:65537376:C:T p.(Ser553=) NC_000017.11:65537376:C:T p.(Ser553=) NC_000017.11:65537376:C:T Identity +NM_001014797.3:c.894C>T NP_001014797.1:p.Ile298= NC_000010.11:77112432:G:A p.(Ile298=) NC_000010.11:77112432:G:A p.(Ile298=) NC_000010.11:77112432:G:A Identity +NM_000321.3:c.948T>C NP_000312.2:p.Asn316= NC_000013.11:48367501:T:C p.(Asn316=) NC_000013.11:48367501:T:C p.(Asn316=) NC_000013.11:48367501:T:C Identity +NM_000038.6:c.1068C>T NP_000029.2:p.Leu356= NC_000005.10:112819099:C:T p.(Leu356=) NC_000005.10:112819099:C:T p.(Leu356=) NC_000005.10:112819099:C:T Identity +NM_001425326.1:c.1860G>C NP_001412255.1:p.Leu620= NC_000001.11:99880755:G:C p.(Leu620=) NC_000001.11:99880755:G:C p.(Leu620=) NC_000001.11:99880755:G:C Identity +NM_000282.4:c.849A>G NP_000273.2:p.Leu283= NC_000013.11:100268717:A:G p.(Leu283=) NC_000013.11:100268717:A:G p.(Leu283=) NC_000013.11:100268717:A:G Identity +NM_001371727.1:c.1143C>T NP_001358656.1:p.Asn381= NC_000005.10:161326415:G:A p.(Asn381=) NC_000005.10:161326415:G:A p.(Asn381=) NC_000005.10:161326415:G:A Identity +NM_000313.4:c.1815C>T NP_000304.2:p.Ala605= NC_000003.12:93877020:G:A p.(Ala605=) NC_000003.12:93877020:G:A p.(Ala605=) NC_000003.12:93877020:G:A Identity +NM_001031847.3:c.567G>A NP_001027017.1:p.Ser189= NC_000011.10:68799343:C:T p.(Ser189=) NC_000011.10:68799343:C:T p.(Ser189=) NC_000011.10:68799343:C:T Identity +NM_004304.5:c.2463G>A NP_004295.2:p.Gly821= NC_000002.12:29233588:C:T p.(Gly821=) NC_000002.12:29233588:C:T p.(Gly821=) NC_000002.12:29233588:C:T Identity +NM_001164507.2:c.9891T>A NP_001157979.2:p.Ile3297= NC_000002.12:151627774:A:T p.(Ile3297=) NC_000002.12:151627774:A:T p.(Ile3297=) NC_000002.12:151627774:A:T Identity +NM_001142805.2:c.1386G>C NP_001136277.1:p.Leu462= NC_000023.11:153694366:G:C p.(Leu462=) NC_000023.11:153694366:G:C p.(Leu462=) NC_000023.11:153694366:G:C Identity +NM_001036.6:c.7266C>A NP_001027.3:p.Leu2422= NC_000015.10:33731535:C:A p.(Leu2422=) NC_000015.10:33731535:C:A p.(Leu2422=) NC_000015.10:33731535:C:A Identity +NM_001605.3:c.909G>T NP_001596.2:p.Arg303= NC_000016.10:70269670:C:A p.(Arg303=) NC_000016.10:70269670:C:A p.(Arg303=) NC_000016.10:70269670:C:A Identity +NM_001034850.3:c.147G>A NP_001030022.1:p.Ala49= NC_000005.10:16616824:C:T p.(Ala49=) NC_000005.10:16616824:C:T p.(Ala49=) NC_000005.10:16616824:C:T Identity +NM_001351059.2:c.198C>T NP_001337988.1:p.Thr66= NC_000011.10:68045028:C:T p.(Thr66=) NC_000011.10:68045028:C:T p.(Thr66=) NC_000011.10:68045028:C:T Identity +NM_000094.4:c.4125C>A NP_000085.1:p.Pro1375= NC_000003.12:48584369:G:T p.(Pro1375=) NC_000003.12:48584369:G:T p.(Pro1375=) NC_000003.12:48584369:G:T Identity +NM_017890.5:c.3615C>T NP_060360.3:p.Val1205= NC_000008.11:99467582:C:T p.(Val1205=) NC_000008.11:99467582:C:T p.(Val1205=) NC_000008.11:99467582:C:T Identity +NM_001031847.3:c.507A>C NP_001027017.1:p.Thr169= NC_000011.10:68804047:T:G p.(Thr169=) NC_000011.10:68804047:T:G p.(Thr169=) NC_000011.10:68804047:T:G Identity +NM_017617.5:c.6498G>A NP_060087.3:p.Leu2166= NC_000009.12:136497240:C:T p.(Leu2166=) NC_000009.12:136497240:C:T p.(Leu2166=) NC_000009.12:136497240:C:T Identity +NM_014252.4:c.756C>T NP_055067.1:p.Thr252= NC_000013.11:40808570:C:T p.(Thr252=) NC_000013.11:40808570:C:T p.(Thr252=) NC_000013.11:40808570:C:T Identity +NM_001171930.2:c.1257G>C NP_001165401.1:p.Leu419= NC_000010.11:71645946:G:C p.(Leu419=) NC_000010.11:71645946:G:C p.(Leu419=) NC_000010.11:71645946:G:C Identity +NM_000246.4:c.648G>A NP_000237.2:p.Ser216= NC_000016.10:10902676:G:A p.(Ser216=) NC_000016.10:10902676:G:A p.(Ser216=) NC_000016.10:10902676:G:A Identity +NM_001145472.3:c.2334C>T NP_001138944.1:p.Val778= NC_000018.10:46507562:G:A p.(Val778=) NC_000018.10:46507562:G:A p.(Val778=) NC_000018.10:46507562:G:A Identity +NM_001145770.3:c.840G>A NP_001139242.1:p.Arg280= NC_000016.10:57655469:G:A p.(Arg280=) NC_000016.10:57655469:G:A p.(Arg280=) NC_000016.10:57655469:G:A Identity +NM_138694.4:c.7095A>G NP_619639.3:p.Ala2365= NC_000006.12:51887146:T:C p.(Ala2365=) NC_000006.12:51887146:T:C p.(Ala2365=) NC_000006.12:51887146:T:C Identity +NM_001164277.2:c.1089C>T NP_001157749.1:p.Gly363= NC_000011.10:119025224:G:A p.(Gly363=) NC_000011.10:119025224:G:A p.(Gly363=) NC_000011.10:119025224:G:A Identity +NM_001347827.2:c.285A>T NP_001334756.1:p.Thr95= NC_000004.12:54261329:A:T p.(Thr95=) NC_000004.12:54261329:A:T p.(Thr95=) NC_000004.12:54261329:A:T Identity +NM_006445.4:c.786C>T NP_006436.3:p.Ala262= NC_000017.11:1681557:G:A p.(Ala262=) NC_000017.11:1681557:G:A p.(Ala262=) NC_000017.11:1681557:G:A Identity +NM_000052.7:c.1182T>C NP_000043.4:p.Ser394= NC_000023.11:77989803:T:C p.(Ser394=) NC_000023.11:77989803:T:C p.(Ser394=) NC_000023.11:77989803:T:C Identity +NM_007248.5:c.138A>T NP_009179.2:p.Thr46= NC_000003.12:48466822:A:T p.(Thr46=) NC_000003.12:48466822:A:T p.(Thr46=) NC_000003.12:48466822:A:T Identity +NM_024529.5:c.1527A>G NP_078805.3:p.Pro509= NC_000001.11:193249838:A:G p.(Pro509=) NC_000001.11:193249838:A:G p.(Pro509=) NC_000001.11:193249838:A:G Identity +NM_000128.4:c.687C>T NP_000119.1:p.Ile229= NC_000004.12:186276321:C:T p.(Ile229=) NC_000004.12:186276321:C:T p.(Ile229=) NC_000004.12:186276321:C:T Identity +NM_001145472.3:c.1353C>T NP_001138944.1:p.Arg451= NC_000018.10:46524761:G:A p.(Arg451=) NC_000018.10:46524761:G:A p.(Arg451=) NC_000018.10:46524761:G:A Identity +NM_004281.4:c.528C>T NP_004272.2:p.Ala176= NC_000010.11:119672274:C:T p.(Ala176=) NC_000010.11:119672274:C:T p.(Ala176=) NC_000010.11:119672274:C:T Identity +NM_000051.4:c.1968T>G NP_000042.3:p.Thr656= NC_000011.10:108253882:T:G p.(Thr656=) NC_000011.10:108253882:T:G p.(Thr656=) NC_000011.10:108253882:T:G Identity +NM_000170.3:c.2094A>C NP_000161.2:p.Thr698= NC_000009.12:6556260:T:G p.(Thr698=) NC_000009.12:6556260:T:G p.(Thr698=) NC_000009.12:6556260:T:G Identity +NM_001144769.5:c.4617A>G NP_001138241.1:p.Thr1539= NC_000006.12:56627209:T:C p.(Thr1539=) NC_000006.12:56627209:T:C p.(Thr1539=) NC_000006.12:56627209:T:C Identity +NM_001184751.2:c.216C>T NP_001171680.1:p.Asp72= NC_000011.10:46701585:C:T p.(Asp72=) NC_000011.10:46701585:C:T p.(Asp72=) NC_000011.10:46701585:C:T Identity +NM_021167.5:c.591C>T NP_066990.3:p.Asp197= NC_000007.14:92454656:C:T p.(Asp197=) NC_000007.14:92454656:C:T p.(Asp197=) NC_000007.14:92454656:C:T Identity +NM_001122633.3:c.951G>A NP_001116105.2:p.Gly317= NC_000002.12:210591833:G:A p.(Gly317=) NC_000002.12:210591833:G:A p.(Gly317=) NC_000002.12:210591833:G:A Identity +NM_001164507.2:c.11640A>T NP_001157979.2:p.Ile3880= NC_000002.12:151612350:T:A p.(Ile3880=) NC_000002.12:151612350:T:A p.(Ile3880=) NC_000002.12:151612350:T:A Identity +NM_001081676.2:c.2800T>C NP_001075145.1:p.Leu934= NC_000002.12:165128076:A:G p.(Leu934=) NC_000002.12:165128076:A:G p.(Leu934=) NC_000002.12:165128076:A:G Identity +NM_000187.4:c.1068G>A NP_000178.2:p.Gly356= NC_000003.12:120633266:C:T p.(Gly356=) NC_000003.12:120633266:C:T p.(Gly356=) NC_000003.12:120633266:C:T Identity +NM_001127207.2:c.2853G>A NP_001120679.1:p.Thr951= NC_000002.12:216482964:G:A p.(Thr951=) NC_000002.12:216482964:G:A p.(Thr951=) NC_000002.12:216482964:G:A Identity +NM_001164507.2:c.198G>C NP_001157979.2:p.Val66= NC_000002.12:151727786:C:G p.(Val66=) NC_000002.12:151727786:C:G p.(Val66=) NC_000002.12:151727786:C:G Identity +NM_001999.4:c.7389T>A NP_001990.2:p.Gly2463= NC_000005.10:128277961:A:T p.(Gly2463=) NC_000005.10:128277961:A:T p.(Gly2463=) NC_000005.10:128277961:A:T Identity +NM_001351527.2:c.7164G>A NP_001338456.1:p.Thr2388= NC_000009.12:132271744:C:T p.(Thr2388=) NC_000009.12:132271744:C:T p.(Thr2388=) NC_000009.12:132271744:C:T Identity +NM_000339.3:c.2961C>T NP_000330.3:p.Pro987= NC_000016.10:56913272:C:T p.(Pro987=) NC_000016.10:56913272:C:T p.(Pro987=) NC_000016.10:56913272:C:T Identity +NM_006231.4:c.2808C>T NP_006222.2:p.Pro936= NC_000012.12:132661582:G:A p.(Pro936=) NC_000012.12:132661582:G:A p.(Pro936=) NC_000012.12:132661582:G:A Identity +NM_000053.4:c.2916C>T NP_000044.2:p.Phe972= NC_000013.11:51946427:G:A p.(Phe972=) NC_000013.11:51946427:G:A p.(Phe972=) NC_000013.11:51946427:G:A Identity +NM_001163817.2:c.669C>T NP_001157289.1:p.Ile223= NC_000011.10:71439040:G:A p.(Ile223=) NC_000011.10:71439040:G:A p.(Ile223=) NC_000011.10:71439040:G:A Identity +NM_001350234.2:c.2760C>T NP_001337163.1:p.Thr920= NC_000001.11:9724319:C:T p.(Thr920=) NC_000001.11:9724319:C:T p.(Thr920=) NC_000001.11:9724319:C:T Identity +NM_000070.3:c.1098C>T NP_000061.1:p.Asn366= NC_000015.10:42394323:C:T p.(Asn366=) NC_000015.10:42394323:C:T p.(Asn366=) NC_000015.10:42394323:C:T Identity +NM_001304481.2:c.2277G>A NP_001291410.1:p.Leu759= NC_000012.12:32638773:G:A p.(Leu759=) NC_000012.12:32638773:G:A p.(Leu759=) NC_000012.12:32638773:G:A Identity +NM_001037343.2:c.2244C>T NP_001032420.1:p.Asn748= NC_000023.11:18613242:C:T p.(Asn748=) NC_000023.11:18613242:C:T p.(Asn748=) NC_000023.11:18613242:C:T Identity +NM_001271999.2:c.3783A>G NP_001258928.1:p.Glu1261= NC_000001.11:62528303:T:C p.(Glu1261=) NC_000001.11:62528303:T:C p.(Glu1261=) NC_000001.11:62528303:T:C Identity +NM_052845.4:c.168C>G NP_443077.1:p.Pro56= NC_000012.12:109571676:G:C p.(Pro56=) NC_000012.12:109571676:G:C p.(Pro56=) NC_000012.12:109571676:G:C Identity +NM_001127214.4:c.1728A>G NP_001120686.1:p.Ser576= NC_000016.10:89154203:A:G p.(Ser576=) NC_000016.10:89154203:A:G p.(Ser576=) NC_000016.10:89154203:A:G Identity +NM_001293557.2:c.1233C>A NP_001280486.1:p.Ile411= NC_000016.10:50711224:C:A p.(Ile411=) NC_000016.10:50711224:C:A p.(Ile411=) NC_000016.10:50711224:C:A Identity +NM_005045.4:c.5224C>A NP_005036.2:p.Arg1742= NC_000007.14:103561939:G:T p.(Arg1742=) NC_000007.14:103561939:G:T p.(Arg1742=) NC_000007.14:103561939:G:T Identity +NM_000426.4:c.8397C>T NP_000417.3:p.Ser2799= NC_000006.12:129503129:C:T p.(Ser2799=) NC_000006.12:129503129:C:T p.(Ser2799=) NC_000006.12:129503129:C:T Identity +NM_000016.6:c.6A>C NP_000007.1:p.Ala2= NC_000001.11:75724792:A:C p.(Ala2=) NC_000001.11:75724792:A:C p.(Ala2=) NC_000001.11:75724792:A:C Identity +NM_000416.3:c.402C>T NP_000407.1:p.Ile134= NC_000006.12:137204475:G:A p.(Ile134=) NC_000006.12:137204475:G:A p.(Ile134=) NC_000006.12:137204475:G:A Identity +NM_000152.5:c.408C>T NP_000143.2:p.Tyr136= NC_000017.11:80104993:C:T p.(Tyr136=) NC_000017.11:80104993:C:T p.(Tyr136=) NC_000017.11:80104993:C:T Identity +NM_000246.4:c.126T>C NP_000237.2:p.Ala42= NC_000016.10:10895354:T:C p.(Ala42=) NC_000016.10:10895354:T:C p.(Ala42=) NC_000016.10:10895354:T:C Identity +NM_004588.5:c.561A>G NP_004579.1:p.Lys187= NC_000011.10:118166973:T:C p.(Lys187=) NC_000011.10:118166973:T:C p.(Lys187=) NC_000011.10:118166973:T:C Identity +NM_000426.4:c.5019A>G NP_000417.3:p.Thr1673= NC_000006.12:129383180:A:G p.(Thr1673=) NC_000006.12:129383180:A:G p.(Thr1673=) NC_000006.12:129383180:A:G Identity +NM_003482.4:c.13942C>T NP_003473.3:p.Leu4648= NC_000012.12:49030336:G:A p.(Leu4648=) NC_000012.12:49030336:G:A p.(Leu4648=) NC_000012.12:49030336:G:A Identity +NM_002838.5:c.1308T>C NP_002829.3:p.Asn436= NC_000001.11:198716697:T:C p.(Asn436=) NC_000001.11:198716697:T:C p.(Asn436=) NC_000001.11:198716697:T:C Identity +NM_000445.5:c.4788G>C NP_000436.2:p.Thr1596= NC_000008.11:143925221:C:G p.(Thr1596=) NC_000008.11:143925221:C:G p.(Thr1596=) NC_000008.11:143925221:C:G Identity +NM_000081.4:c.1005G>C NP_000072.2:p.Leu335= NC_000001.11:235809812:C:G p.(Leu335=) NC_000001.11:235809812:C:G p.(Leu335=) NC_000001.11:235809812:C:G Identity +NM_001144769.5:c.12240T>C NP_001138241.1:p.Ala4080= NC_000006.12:56511379:A:G p.(Ala4080=) NC_000006.12:56511379:A:G p.(Ala4080=) NC_000006.12:56511379:A:G Identity +NM_001127207.2:c.1510C>T NP_001120679.1:p.Leu504= NC_000002.12:216435361:C:T p.(Leu504=) NC_000002.12:216435361:C:T p.(Leu504=) NC_000002.12:216435361:C:T Identity +NM_003000.3:c.147A>G NP_002991.2:p.Pro49= NC_000001.11:17044813:T:C p.(Pro49=) NC_000001.11:17044813:T:C p.(Pro49=) NC_000001.11:17044813:T:C Identity +NM_001172695.2:c.10C>T NP_001166166.1:p.Leu4= NC_000012.12:57782810:C:T p.(Leu4=) NC_000012.12:57782810:C:T p.(Leu4=) NC_000012.12:57782810:C:T Identity +NM_001258392.3:c.1968C>T NP_001245321.1:p.Asp656= NC_000011.10:72293432:G:A p.(Asp656=) NC_000011.10:72293432:G:A p.(Asp656=) NC_000011.10:72293432:G:A Identity +NM_002241.5:c.984C>T NP_002232.2:p.Ser328= NC_000001.11:160041548:G:A p.(Ser328=) NC_000001.11:160041548:G:A p.(Ser328=) NC_000001.11:160041548:G:A Identity +NM_000124.4:c.2163A>G NP_000115.1:p.Pro721= NC_000010.11:49482692:T:C p.(Pro721=) NC_000010.11:49482692:T:C p.(Pro721=) NC_000010.11:49482692:T:C Identity +NM_017617.5:c.94C>T NP_060087.3:p.Leu32= NC_000009.12:136544069:G:A p.(Leu32=) NC_000009.12:136544069:G:A p.(Leu32=) NC_000009.12:136544069:G:A Identity +NM_001256849.1:c.3007C>T NP_001243778.1:p.Leu1003= NC_000019.10:50416662:C:T p.(Leu1003=) NC_000019.10:50416662:C:T p.(Leu1003=) NC_000019.10:50416662:C:T Identity +NM_001145527.2:c.1161C>T NP_001138999.1:p.Arg387= NC_000009.12:137744080:C:T p.(Arg387=) NC_000009.12:137744080:C:T p.(Arg387=) NC_000009.12:137744080:C:T Identity +NM_000153.4:c.1188G>T NP_000144.2:p.Arg396= NC_000014.9:87950721:C:A p.(Arg396=) NC_000014.9:87950721:C:A p.(Arg396=) NC_000014.9:87950721:C:A Identity +NM_015450.3:c.169C>T NP_056265.2:p.Leu57= NC_000007.14:124870996:G:A p.(Leu57=) NC_000007.14:124870996:G:A p.(Leu57=) NC_000007.14:124870996:G:A Identity +NM_057176.3:c.747G>A NP_476517.1:p.Leu249= NC_000001.11:55008411:G:A p.(Leu249=) NC_000001.11:55008411:G:A p.(Leu249=) NC_000001.11:55008411:G:A Identity +NM_015072.5:c.387C>T NP_055887.3:p.Thr129= NC_000014.9:75690206:C:T p.(Thr129=) NC_000014.9:75690206:C:T p.(Thr129=) NC_000014.9:75690206:C:T Identity +NM_005373.3:c.1320G>C NP_005364.1:p.Pro440= NC_000001.11:43348853:G:C p.(Pro440=) NC_000001.11:43348853:G:C p.(Pro440=) NC_000001.11:43348853:G:C Identity +NM_001407591.1:c.3402G>A NP_001394520.1:p.Gln1134= NC_000017.11:43092125:C:T p.(Gln1134=) NC_000017.11:43092125:C:T p.(Gln1134=) NC_000017.11:43092125:C:T Identity +NM_001293273.2:c.1080A>G NP_001280202.1:p.Pro360= NC_000003.12:183037380:T:C p.(Pro360=) NC_000003.12:183037380:T:C p.(Pro360=) NC_000003.12:183037380:T:C Identity +NM_001352300.2:c.1404C>T NP_001339229.1:p.Asn468= NC_000022.11:19878127:G:A p.(Asn468=) NC_000022.11:19878127:G:A p.? NC_000022.11:19878127:G:A Identity +NM_001378454.1:c.8622A>G NP_001365383.1:p.Pro2874= NC_000002.12:73490580:A:G p.(Pro2874=) NC_000002.12:73490580:A:G p.(Pro2874=) NC_000002.12:73490580:A:G Identity +NM_001692.4:c.123C>T NP_001683.2:p.Tyr41= NC_000002.12:70943661:C:T p.(Tyr41=) NC_000002.12:70943661:C:T p.(Tyr41=) NC_000002.12:70943661:C:T Identity +NM_001282782.2:c.543A>G NP_001269711.1:p.Thr181= NC_000022.11:46355454:A:G p.(Thr181=) NC_000022.11:46355454:A:G p.(Thr181=) NC_000022.11:46355454:A:G Identity +NM_001256850.1:c.23772C>T NP_001243779.1:p.Tyr7924= NC_000002.12:178718382:G:A p.(Tyr7924=) NC_000002.12:178718382:G:A p.(Tyr7924=) NC_000002.12:178718382:G:A Identity +NM_001048171.2:c.660C>A NP_001041636.2:p.Ala220= NC_000001.11:45332434:G:T p.(Ala220=) NC_000001.11:45332434:G:T p.(Ala220=) NC_000001.11:45332434:G:T Identity +NM_005751.5:c.3729A>G NP_005742.4:p.Gln1243= NC_000007.14:92016244:A:G p.(Gln1243=) NC_000007.14:92016244:A:G p.(Gln1243=) NC_000007.14:92016244:A:G Identity +NM_005373.3:c.921C>T NP_005364.1:p.Asp307= NC_000001.11:43340453:C:T p.(Asp307=) NC_000001.11:43340453:C:T p.(Asp307=) NC_000001.11:43340453:C:T Identity +NM_001185039.2:c.1578G>A NP_001171968.1:p.Leu526= NC_000017.11:75949252:C:T p.(Leu526=) NC_000017.11:75949252:C:T p.(Leu526=) NC_000017.11:75949252:C:T Identity +NM_000553.6:c.2838C>T NP_000544.2:p.Cys946= NC_000008.11:31132376:C:T p.(Cys946=) NC_000008.11:31132376:C:T p.(Cys946=) NC_000008.11:31132376:C:T Identity +NM_000199.5:c.852C>T NP_000190.1:p.Asn284= NC_000017.11:80212167:G:A p.(Asn284=) NC_000017.11:80212167:G:A p.(Asn284=) NC_000017.11:80212167:G:A Identity +NM_000495.5:c.549C>A NP_000486.1:p.Gly183= NC_000023.11:108575911:C:A p.(Gly183=) NC_000023.11:108575911:C:A p.(Gly183=) NC_000023.11:108575911:C:A Identity +NM_001351059.2:c.1236C>T NP_001337988.1:p.Ser412= NC_000011.10:68050147:C:T p.(Ser412=) NC_000011.10:68050147:C:T p.(Ser412=) NC_000011.10:68050147:C:T Identity +NM_000215.4:c.1341C>T NP_000206.2:p.His447= NC_000019.10:17839576:G:A p.(His447=) NC_000019.10:17839576:G:A p.(His447=) NC_000019.10:17839576:G:A Identity +NM_000203.5:c.942G>A NP_000194.2:p.Ala314= NC_000004.12:1002130:G:A p.(Ala314=) NC_000004.12:1002130:G:A p.(Ala314=) NC_000004.12:1002130:G:A Identity +NM_000546.6:c.573T>G NP_000537.3:p.Pro191= NC_000017.11:7674957:A:C p.(Pro191=) NC_000017.11:7674957:A:C p.(Pro191=) NC_000017.11:7674957:A:C Identity +NM_001126132.3:c.708C>T NP_001119604.1:p.Asn236= NC_000019.10:55133921:G:A p.(Asn236=) NC_000019.10:55133921:G:A p.(Asn236=) NC_000019.10:55133921:G:A Identity +NM_001282902.3:c.1974G>A NP_001269831.1:p.Ser658= NC_000008.11:115603967:C:T p.(Ser658=) NC_000008.11:115603967:C:T p.(Ser658=) NC_000008.11:115603967:C:T Identity +NM_001277971.2:c.774A>G NP_001264900.1:p.Gln258= NC_000008.11:43122597:A:G p.(Gln258=) NC_000008.11:43122597:A:G p.(Gln258=) NC_000008.11:43122597:A:G Identity +NM_000593.6:c.1962C>T NP_000584.3:p.Ala654= NC_000006.12:32847145:G:A p.(Ala654=) NC_000006.12:32847145:G:A p.(Ala654=) NC_000006.12:32847145:G:A Identity +NM_005055.5:c.483C>T NP_005046.2:p.Leu161= NC_000011.10:47447859:G:A p.(Leu161=) NC_000011.10:47447859:G:A p.(Leu161=) NC_000011.10:47447859:G:A Identity +NM_000495.5:c.2481A>G NP_000486.1:p.Pro827= NC_000023.11:108614995:A:G p.(Pro827=) NC_000023.11:108614995:A:G p.(Pro827=) NC_000023.11:108614995:A:G Identity +NM_000033.4:c.1002C>G NP_000024.2:p.Leu334= NC_000023.11:153729332:C:G p.(Leu334=) NC_000023.11:153729332:C:G p.(Leu334=) NC_000023.11:153729332:C:G Identity +NM_000404.4:c.1521G>A NP_000395.3:p.Thr507= NC_000003.12:33014268:C:T p.(Thr507=) NC_000003.12:33014268:C:T p.(Thr507=) NC_000003.12:33014268:C:T Identity +NM_001363227.2:c.1632G>A NP_001350156.1:p.Gly544= NC_000008.11:43197673:G:A p.(Gly544=) NC_000008.11:43197673:G:A p.(Gly544=) NC_000008.11:43197673:G:A Identity +NM_058216.3:c.1047T>G NP_478123.1:p.Thr349= NC_000017.11:58734137:T:G p.(Thr349=) NC_000017.11:58734137:T:G p.(Thr349=) NC_000017.11:58734137:T:G Identity +NM_000425.5:c.1863C>T NP_000416.1:p.Ser621= NC_000023.11:153867875:G:A p.(Ser621=) NC_000023.11:153867875:G:A p.(Ser621=) NC_000023.11:153867875:G:A Identity +NM_000251.3:c.1887A>G NP_000242.1:p.Gln629= NC_000002.12:47475151:A:G p.(Gln629=) NC_000002.12:47475151:A:G p.(Gln629=) NC_000002.12:47475151:A:G Identity +NM_004260.4:c.1590C>T NP_004251.4:p.Val530= NC_000008.11:144514965:G:A p.(Val530=) NC_000008.11:144514965:G:A p.(Val530=) NC_000008.11:144514965:G:A Identity +NM_014797.3:c.978G>A NP_055612.2:p.Glu326= NC_000006.12:109476904:C:T p.(Glu326=) NC_000006.12:109476904:C:T p.(Glu326=) NC_000006.12:109476904:C:T Identity +NM_001330358.2:c.1689G>A NP_001317287.1:p.Ala563= NC_000001.11:11792343:C:T p.(Ala563=) NC_000001.11:11792343:C:T p.(Ala563=) NC_000001.11:11792343:C:T Identity +NM_001144996.2:c.291C>T NP_001138468.1:p.Ser97= NC_000012.12:55703093:G:A p.(Ser97=) NC_000012.12:55703093:G:A p.(Ser97=) NC_000012.12:55703093:G:A Identity +NM_001081640.2:c.8682G>A NP_001075109.1:p.Glu2894= NC_000008.11:47826756:C:T p.(Glu2894=) NC_000008.11:47826756:C:T p.(Glu2894=) NC_000008.11:47826756:C:T Identity +NM_000287.4:c.1698C>T NP_000278.3:p.Pro566= NC_000006.12:42967553:G:A p.(Pro566=) NC_000006.12:42967553:G:A p.(Pro566=) NC_000006.12:42967553:G:A Identity +NM_000018.4:c.351C>T NP_000009.1:p.Asn117= NC_000017.11:7220931:C:T p.(Asn117=) NC_000017.11:7220931:C:T p.(Asn117=) NC_000017.11:7220931:C:T Identity +NM_001289155.2:c.783C>T NP_001276084.1:p.Thr261= NC_000015.10:74896263:C:T p.(Thr261=) NC_000015.10:74896263:C:T p.(Thr261=) NC_000015.10:74896263:C:T Identity +NM_001605.3:c.1722A>G NP_001596.2:p.Leu574= NC_000016.10:70261106:T:C p.(Leu574=) NC_000016.10:70261106:T:C p.(Leu574=) NC_000016.10:70261106:T:C Identity +NM_000268.4:c.1470G>T NP_000259.1:p.Pro490= NC_000022.11:29678218:G:T p.(Pro490=) NC_000022.11:29678218:G:T p.(Pro490=) NC_000022.11:29678218:G:T Identity +NM_017890.5:c.7446T>C NP_060360.3:p.Ser2482= NC_000008.11:99776897:T:C p.(Ser2482=) NC_000008.11:99776897:T:C p.(Ser2482=) NC_000008.11:99776897:T:C Identity +NM_001297764.2:c.402C>T NP_001284693.1:p.Ile134= NC_000011.10:17527316:G:A p.(Ile134=) NC_000011.10:17527316:G:A p.(Ile134=) NC_000011.10:17527316:G:A Identity +NM_000544.3:c.249C>A NP_000535.3:p.Val83= NC_000006.12:32837984:G:T p.(Val83=) NT_167244.2:4142850:G:T p.(Val83=) NC_000006.12:4142850:T:T Identity +NM_001271723.2:c.711C>T NP_001258652.1:p.Phe237= NC_000005.10:148404802:C:T p.(Phe237=) NC_000005.10:148404802:C:T p.(Phe237=) NC_000005.10:148404802:C:T Identity +NM_000287.4:c.1386A>G NP_000278.3:p.Gly462= NC_000006.12:42968966:T:C p.(Gly462=) NC_000006.12:42968966:T:C p.(Gly462=) NC_000006.12:42968966:T:C Identity +NM_001134771.2:c.3330C>T NP_001128243.1:p.Tyr1110= NC_000020.11:46057514:C:T p.(Tyr1110=) NC_000020.11:46057514:C:T p.(Tyr1110=) NC_000020.11:46057514:C:T Identity +NM_000288.4:c.159A>G NP_000279.1:p.Pro53= NC_000006.12:136825241:A:G p.(Pro53=) NC_000006.12:136825241:A:G p.(Pro53=) NC_000006.12:136825241:A:G Identity +NM_000920.4:c.783C>T NP_000911.2:p.Tyr261= NC_000011.10:66870421:G:A p.(Tyr261=) NC_000011.10:66870421:G:A p.(Tyr261=) NC_000011.10:66870421:G:A Identity +NM_001164507.2:c.7245C>T NP_001157979.2:p.Asp2415= NC_000002.12:151650361:G:A p.(Asp2415=) NC_000002.12:151650361:G:A p.(Asp2415=) NC_000002.12:151650361:G:A Identity +NM_000238.4:c.2448C>G NP_000229.1:p.Gly816= NC_000007.14:150948999:G:C p.(Gly816=) NC_000007.14:150948999:G:C p.(Gly816=) NC_000007.14:150948999:G:C Identity +NM_005120.3:c.33C>T NP_005111.2:p.His11= NC_000023.11:71118786:C:T p.(His11=) NC_000023.11:71118786:C:T p.(His11=) NC_000023.11:71118786:C:T Identity +NM_001083602.3:c.627G>A NP_001077071.1:p.Val209= NC_000009.12:95480509:C:T p.(Val209=) NC_000009.12:95480509:C:T p.(Val209=) NC_000009.12:95480509:C:T Identity +NM_152393.4:c.477C>T NP_689606.2:p.His159= NC_000003.12:42686094:C:T p.(His159=) NC_000003.12:42686094:C:T p.(His159=) NC_000003.12:42686094:C:T Identity +NM_001114382.3:c.4041C>G NP_001107854.1:p.Pro1347= NC_000016.10:2084331:C:G p.(Pro1347=) NC_000016.10:2084331:C:G p.(Pro1347=) NC_000016.10:2084331:C:G Identity +NM_000334.4:c.2760G>A NP_000325.4:p.Leu920= NC_000017.11:63951516:C:T p.(Leu920=) NC_000017.11:63951516:C:T p.(Leu920=) NC_000017.11:63951516:C:T Identity +NM_015450.3:c.342C>T NP_056265.2:p.Ile114= NC_000007.14:124863553:G:A p.(Ile114=) NC_000007.14:124863553:G:A p.(Ile114=) NC_000007.14:124863553:G:A Identity +NM_001178133.2:c.426G>A NP_001171604.1:p.Gln142= NC_000010.11:102550077:G:A p.(Gln142=) NC_000010.11:102550077:G:A p.(Gln142=) NC_000010.11:102550077:G:A Identity +NM_017617.5:c.2958C>T NP_060087.3:p.Asp986= NC_000009.12:136509743:G:A p.(Asp986=) NC_000009.12:136509743:G:A p.(Asp986=) NC_000009.12:136509743:G:A Identity +NM_001174089.2:c.1623C>T NP_001167560.1:p.Leu541= NC_000020.11:3229642:G:A p.(Leu541=) NC_000020.11:3229642:G:A p.(Leu541=) NC_000020.11:3229642:G:A Identity +NM_003334.4:c.1038A>G NP_003325.2:p.Pro346= NC_000023.11:47202485:A:G p.(Pro346=) NC_000023.11:47202485:A:G p.(Pro346=) NC_000023.11:47202485:A:G Identity +NM_001256896.2:c.153C>T NP_001243825.1:p.Asp51= NC_000004.12:3493068:C:T p.(Asp51=) NC_000004.12:3493068:C:T p.(Asp51=) NC_000004.12:3493068:C:T Identity +NM_000068.4:c.6492C>T NP_000059.3:p.Arg2164= NC_000019.10:13209363:G:A p.(Arg2164=) NC_000019.10:13209363:G:A p.(Arg2164=) NC_000019.10:13209363:G:A Identity +NM_000263.4:c.1884G>A NP_000254.2:p.Ala628= NC_000017.11:42543889:G:A p.(Ala628=) NC_000017.11:42543889:G:A p.(Ala628=) NC_000017.11:42543889:G:A Identity +NM_002439.5:c.1317C>T NP_002430.3:p.Leu439= NC_000005.10:80679069:C:T p.(Leu439=) NC_000005.10:80679069:C:T p.(Leu439=) NC_000005.10:80679069:C:T Identity +NM_000170.3:c.2844T>G NP_000161.2:p.Ser948= NC_000009.12:6534782:A:C p.(Ser948=) NC_000009.12:6534782:A:C p.(Ser948=) NC_000009.12:6534782:A:C Identity +NM_020754.4:c.147C>T NP_065805.2:p.Gly49= NC_000003.12:119365361:C:T p.(Gly49=) NC_000003.12:119365361:C:T p.(Gly49=) NC_000003.12:119365361:C:T Identity +NM_001407571.1:c.3735C>T NP_001394500.1:p.Phe1245= NC_000017.11:43091582:G:A p.(Phe1245=) NC_000017.11:43091582:G:A p.(Phe1245=) NC_000017.11:43091582:G:A Identity +NM_015192.4:c.1839C>T NP_056007.1:p.Leu613= NC_000020.11:8729124:C:T p.(Leu613=) NC_000020.11:8729124:C:T p.(Leu613=) NC_000020.11:8729124:C:T Identity +NM_001128844.3:c.1959G>C NP_001122316.1:p.Pro653= NC_000019.10:11003354:G:C p.(Pro653=) NC_000019.10:11003354:G:C p.(Pro653=) NC_000019.10:11003354:G:C Identity +NM_001378454.1:c.1836T>C NP_001365383.1:p.Thr612= NC_000002.12:73448362:T:C p.(Thr612=) NC_000002.12:73448362:T:C p.(Thr612=) NC_000002.12:73448362:T:C Identity +NM_001142763.2:c.2694T>G NP_001136235.1:p.Thr898= NC_000010.11:54020263:A:C p.(Thr898=) NC_000010.11:54020263:A:C p.(Thr898=) NC_000010.11:54020263:A:C Identity +NM_001305275.2:c.5481C>A NP_001292204.1:p.Gly1827= NC_000001.11:1051550:C:A p.(Gly1827=) NC_000001.11:1051550:C:A p.(Gly1827=) NC_000001.11:1051550:C:A Identity +NM_001353765.2:c.1539T>C NP_001340694.1:p.Asn513= NC_000002.12:29193343:A:G p.(Asn513=) NC_000002.12:29193343:A:G p.(Asn513=) NC_000002.12:29193343:A:G Identity +NM_001185039.2:c.1605T>C NP_001171968.1:p.Asp535= NC_000017.11:75949225:A:G p.(Asp535=) NC_000017.11:75949225:A:G p.(Asp535=) NC_000017.11:75949225:A:G Identity +NM_007123.6:c.1926C>T NP_009054.6:p.Asp642= NC_000001.11:216289324:G:A p.(Asp642=) NC_000001.11:216289324:G:A p.(Asp642=) NC_000001.11:216289324:G:A Identity +NM_000313.4:c.1146A>G NP_000304.2:p.Leu382= NC_000003.12:93892941:T:C p.(Leu382=) NC_000003.12:93892941:T:C p.(Leu382=) NC_000003.12:93892941:T:C Identity +NM_001128844.3:c.4371C>T NP_001122316.1:p.Asn1457= NC_000019.10:11041506:C:T p.(Asn1457=) NC_000019.10:11041506:C:T p.(Asn1457=) NC_000019.10:11041506:C:T Identity +NM_001127487.2:c.3342T>C NP_001120959.1:p.Asp1114= NC_000007.14:128844806:T:C p.(Asp1114=) NC_000007.14:128844806:T:C p.(Asp1114=) NC_000007.14:128844806:T:C Identity +NM_001184751.2:c.855A>G NP_001171680.1:p.Ser285= NC_000011.10:46704578:A:G p.(Ser285=) NC_000011.10:46704578:A:G p.(Ser285=) NC_000011.10:46704578:A:G Identity +NM_001164507.2:c.1275C>T NP_001157979.2:p.Ser425= NC_000002.12:151697439:G:A p.(Ser425=) NC_000002.12:151697439:G:A p.(Ser425=) NC_000002.12:151697439:G:A Identity +NM_001006658.3:c.975T>C NP_001006659.1:p.Cys325= NC_000001.11:207469851:T:C p.(Cys325=) NC_000001.11:207469851:T:C p.(Cys325=) NC_000001.11:207469851:T:C Identity +NM_001159699.2:c.558A>G NP_001153171.1:p.Thr186= NC_000023.11:136208462:A:G p.(Thr186=) NC_000023.11:136208462:A:G p.(Thr186=) NC_000023.11:136208462:A:G Identity +NM_001142763.2:c.3201C>T NP_001136235.1:p.Ala1067= NC_000010.11:53940911:G:A p.(Ala1067=) NC_000010.11:53940911:G:A p.(Ala1067=) NC_000010.11:53940911:G:A Identity +NM_001177316.2:c.1443C>T NP_001170787.2:p.Thr481= NC_000009.12:137236058:C:T p.(Thr481=) NC_000009.12:137236058:C:T p.(Thr481=) NC_000009.12:137236058:C:T Identity +NM_001127487.2:c.7899C>T NP_001120959.1:p.Asn2633= NC_000007.14:128858342:C:T p.(Asn2633=) NC_000007.14:128858342:C:T p.(Asn2633=) NC_000007.14:128858342:C:T Identity +NM_000883.4:c.21A>G NP_000874.2:p.Pro7= NC_000007.14:128409880:T:C p.(Pro7=) NC_000007.14:128409880:T:C p.(Pro7=) NC_000007.14:128409880:T:C Identity +NM_001035.3:c.9465A>G NP_001026.2:p.Leu3155= NC_000001.11:237705227:A:G p.(Leu3155=) NC_000001.11:237705227:A:G p.(Leu3155=) NC_000001.11:237705227:A:G Identity +NM_012448.4:c.906G>A NP_036580.2:p.Gln302= NC_000017.11:42218805:C:T p.(Gln302=) NC_000017.11:42218805:C:T p.(Gln302=) NC_000017.11:42218805:C:T Identity +NM_000203.5:c.1770G>A NP_000194.2:p.Lys590= NC_000004.12:1004053:G:A p.(Lys590=) NC_000004.12:1004053:G:A p.(Lys590=) NC_000004.12:1004053:G:A Identity +NM_001134793.2:c.690T>G NP_001128265.1:p.Gly230= NC_000011.10:125900057:T:G p.(Gly230=) NC_000011.10:125900057:T:G p.(Gly230=) NC_000011.10:125900057:T:G Identity +NM_001363813.1:c.798T>C NP_001350742.1:p.Thr266= NC_000017.11:65557822:A:G p.(Thr266=) NC_000017.11:65557822:A:G p.(Thr266=) NC_000017.11:65557822:A:G Identity +NM_001160147.2:c.381G>T NP_001153619.1:p.Pro127= NC_000014.9:53152717:C:A p.(Pro127=) NC_000014.9:53152717:C:A p.(Pro127=) NC_000014.9:53152717:C:A Identity +NM_032888.4:c.4719C>T NP_116277.2:p.Val1573= NC_000009.12:114301088:C:T p.(Val1573=) NC_000009.12:114301088:C:T p.(Val1573=) NC_000009.12:114301088:C:T Identity +NM_001166136.2:c.816T>C NP_001159608.1:p.Asp272= NC_000004.12:5663195:A:G p.(Asp272=) NC_000004.12:5663195:A:G p.(Asp272=) NC_000004.12:5663195:A:G Identity +NM_001293557.2:c.2709G>A NP_001280486.1:p.Arg903= NC_000016.10:50722696:G:A p.(Arg903=) NC_000016.10:50722696:G:A p.(Arg903=) NC_000016.10:50722696:G:A Identity +NM_001164097.2:c.3984A>G NP_001157569.1:p.Val1328= NC_000005.10:83539947:A:G p.(Val1328=) NC_000005.10:83539947:A:G p.(Val1328=) NC_000005.10:83539947:A:G Identity +NM_001271933.2:c.2592G>A NP_001258862.1:p.Val864= NC_000011.10:117393092:G:A p.(Val864=) NC_000011.10:117393092:G:A p.(Val864=) NC_000011.10:117393092:G:A Identity +NM_001144769.5:c.9408C>T NP_001138241.1:p.Asp3136= NC_000006.12:56553026:G:A p.(Asp3136=) NC_000006.12:56553026:G:A p.(Asp3136=) NC_000006.12:56553026:G:A Identity +NM_206933.4:c.9870T>C NP_996816.3:p.His3290= NC_000001.11:215798994:A:G p.(His3290=) NC_000001.11:215798994:A:G p.(His3290=) NC_000001.11:215798994:A:G Identity +NM_138694.4:c.651G>C NP_619639.3:p.Val217= NC_000006.12:52071021:C:G p.(Val217=) NC_000006.12:52071021:C:G p.(Val217=) NC_000006.12:52071021:C:G Identity +NM_001193640.2:c.102C>T NP_001180569.1:p.Cys34= NC_000001.11:197328452:C:T p.(Cys34=) NC_000001.11:197328452:C:T p.(Cys34=) NC_000001.11:197328452:C:T Identity +NM_001281463.1:c.2628C>T NP_001268392.1:p.Leu876= NC_000023.11:53396485:G:A p.(Leu876=) NC_000023.11:53396485:G:A p.(Leu876=) NC_000023.11:53396485:G:A Identity +NM_005359.6:c.132A>T NP_005350.1:p.Val44= NC_000018.10:51047177:A:T p.(Val44=) NC_000018.10:51047177:A:T p.(Val44=) NC_000018.10:51047177:A:T Identity +NM_001007468.3:c.321C>T NP_001007469.1:p.Pro107= NC_000022.11:23793673:C:T p.(Pro107=) NC_000022.11:23793673:C:T p.(Pro107=) NC_000022.11:23793673:C:T Identity +NM_001350626.2:c.1380C>A NP_001337555.1:p.Pro460= NC_000007.14:2540993:G:T p.(Pro460=) NC_000007.14:2540993:G:T p.(Pro460=) NC_000007.14:2540993:G:T Identity +NM_014141.6:c.1389C>T NP_054860.1:p.Phe463= NC_000007.14:147300180:C:T p.(Phe463=) NC_000007.14:147300180:C:T p.(Phe463=) NC_000007.14:147300180:C:T Identity +NM_024675.4:c.945G>A NP_078951.2:p.Leu315= NC_000016.10:23635600:C:T p.(Leu315=) NC_000016.10:23635600:C:T p.(Leu315=) NC_000016.10:23635600:C:T Identity +NM_000191.3:c.711C>T NP_000182.2:p.Thr237= NC_000001.11:23808173:G:A p.(Thr237=) NC_000001.11:23808173:G:A p.(Thr237=) NC_000001.11:23808173:G:A Identity +NM_130468.4:c.462C>T NP_569735.1:p.Val154= NC_000015.10:40471674:C:T p.(Val154=) NC_000015.10:40471674:C:T p.(Val154=) NC_000015.10:40471674:C:T Identity +NM_000920.4:c.948G>A NP_000911.2:p.Arg316= NC_000011.10:66868919:C:T p.(Arg316=) NC_000011.10:66868919:C:T p.(Arg316=) NC_000011.10:66868919:C:T Identity +NM_000540.3:c.2151A>G NP_000531.2:p.Gly717= NC_000019.10:38458275:A:G p.(Gly717=) NC_000019.10:38458275:A:G p.(Gly717=) NC_000019.10:38458275:A:G Identity +NM_001271466.4:c.2388G>A NP_001258395.2:p.Gln796= NC_000002.12:231370078:G:A p.(Gln796=) NC_000002.12:231370078:G:A p.(Gln796=) NC_000002.12:231370078:G:A Identity +NM_001171930.2:c.3339G>A NP_001165401.1:p.Glu1113= NC_000010.11:71712782:G:A p.(Glu1113=) NC_000010.11:71712782:G:A p.(Glu1113=) NC_000010.11:71712782:G:A Identity +NM_000203.5:c.1761G>A NP_000194.2:p.Gln587= NC_000004.12:1004044:G:A p.(Gln587=) NC_000004.12:1004044:G:A p.(Gln587=) NC_000004.12:1004044:G:A Identity +NM_001166136.2:c.3111G>C NP_001159608.1:p.Leu1037= NC_000004.12:5574693:C:G p.(Leu1037=) NC_000004.12:5574693:C:G p.(Leu1037=) NC_000004.12:5574693:C:G Identity +NM_001199107.2:c.117G>A NP_001186036.1:p.Ala39= NC_000016.10:2496264:G:A p.(Ala39=) NC_000016.10:2496264:G:A p.(Ala39=) NC_000016.10:2496264:G:A Identity +NM_001007792.1:c.714G>A NP_001007793.1:p.Glu238= NC_000001.11:156871708:G:A p.(Glu238=) NC_000001.11:156871708:G:A p.(Glu238=) NC_000001.11:156871708:G:A Identity +NM_001014797.3:c.642A>G NP_001014797.1:p.Thr214= NC_000010.11:77184876:T:C p.(Thr214=) NC_000010.11:77184876:T:C p.(Thr214=) NC_000010.11:77184876:T:C Identity +NM_001301012.2:c.1050C>A NP_001287941.1:p.Thr350= NC_000006.12:133506125:C:A p.(Thr350=) NC_000006.12:133506125:C:A p.(Thr350=) NC_000006.12:133506125:C:A Identity +NM_001369512.1:c.51G>A NP_001356441.1:p.Gln17= NC_000017.11:42348465:C:T p.(Gln17=) NC_000017.11:42348465:C:T p.(Gln17=) NC_000017.11:42348465:C:T Identity +NM_206933.4:c.12330C>T NP_996816.3:p.Tyr4110= NC_000001.11:215675580:G:A p.(Tyr4110=) NC_000001.11:215675580:G:A p.(Tyr4110=) NC_000001.11:215675580:G:A Identity +NM_001271068.2:c.24G>A NP_001257997.1:p.Glu8= NC_000014.9:65102315:C:T p.(Glu8=) NC_000014.9:65102315:C:T p.(Glu8=) NC_000014.9:65102315:C:T Identity +NM_001136029.4:c.3624C>T NP_001129501.1:p.His1208= NC_000022.11:31874359:C:T p.(His1208=) NC_000022.11:31874359:C:T p.(His1208=) NC_000022.11:31874359:C:T Identity +NM_000350.3:c.3603G>A NP_000341.2:p.Leu1201= NC_000001.11:94040046:C:T p.(Leu1201=) NC_000001.11:94040046:C:T p.(Leu1201=) NC_000001.11:94040046:C:T Identity +NM_018941.4:c.490T>C NP_061764.2:p.Leu164= NC_000008.11:1771543:T:C p.(Leu164=) NC_000008.11:1771543:T:C p.(Leu164=) NC_000008.11:1771543:T:C Identity +NM_018941.4:c.18T>C NP_061764.2:p.Asp6= NC_000008.11:1771071:T:C p.(Asp6=) NC_000008.11:1771071:T:C p.(Asp6=) NC_000008.11:1771071:T:C Identity +NM_017617.5:c.4833C>T NP_060087.3:p.His1611= NC_000009.12:136504857:G:A p.(His1611=) NC_000009.12:136504857:G:A p.(His1611=) NC_000009.12:136504857:G:A Identity +NM_014908.4:c.747C>T NP_055723.1:p.Asp249= NC_000009.12:128946556:G:A p.(Asp249=) NC_000009.12:128946556:G:A p.(Asp249=) NC_000009.12:128946556:G:A Identity +NM_000143.4:c.735G>C NP_000134.2:p.Gly245= NC_000001.11:241508605:C:G p.(Gly245=) NC_000001.11:241508605:C:G p.(Gly245=) NC_000001.11:241508605:C:G Identity +NM_014249.4:c.765G>A NP_055064.1:p.Glu255= NC_000015.10:71813405:G:A p.(Glu255=) NC_000015.10:71813405:G:A p.(Glu255=) NC_000015.10:71813405:G:A Identity +NM_001144769.5:c.9708A>G NP_001138241.1:p.Gln3236= NC_000006.12:56552726:T:C p.(Gln3236=) NC_000006.12:56552726:T:C p.(Gln3236=) NC_000006.12:56552726:T:C Identity +NM_000051.4:c.2970T>C NP_000042.3:p.Ile990= NC_000011.10:108271298:T:C p.(Ile990=) NC_000011.10:108271298:T:C p.(Ile990=) NC_000011.10:108271298:T:C Identity +NM_001042399.2:c.2097C>T NP_001035858.1:p.Ser699= NC_000012.12:94308821:G:A p.(Ser699=) NC_000012.12:94308821:G:A p.(Ser699=) NC_000012.12:94308821:G:A Identity +NM_001134418.2:c.1395T>G NP_001127890.1:p.Ser465= NC_000003.12:189964053:A:C p.(Ser465=) NC_000003.12:189964053:A:C p.(Ser465=) NC_000003.12:189964053:A:C Identity +NM_001256850.1:c.99225T>C NP_001243779.1:p.His33075= NC_000002.12:178532466:A:G p.(His33075=) NC_000002.12:178532466:A:G p.(His33075=) NC_000002.12:178532466:A:G Identity +NM_001353229.2:c.1501C>T NP_001340158.1:p.Leu501= NC_000017.11:17215075:G:A p.(Leu501=) NC_000017.11:17215075:G:A p.(Leu501=) NC_000017.11:17215075:G:A Identity +NM_000159.4:c.438C>T NP_000150.1:p.Ser146= NC_000019.10:12893585:C:T p.(Ser146=) NC_000019.10:12893585:C:T p.(Ser146=) NC_000019.10:12893585:C:T Identity +NM_000719.7:c.1434C>T NP_000710.5:p.Asn478= NC_000012.12:2549985:C:T p.(Asn478=) NC_000012.12:2549985:C:T p.(Asn478=) NC_000012.12:2549985:C:T Identity +NM_001848.3:c.849C>T NP_001839.2:p.Ala283= NC_000021.9:45989127:C:T p.(Ala283=) NC_000021.9:45989127:C:T p.(Ala283=) NC_000021.9:45989127:C:T Identity +NM_001353765.2:c.1282A>C NP_001340694.1:p.Arg428= NC_000002.12:29193600:T:G p.(Arg428=) NC_000002.12:29193600:T:G p.(Arg428=) NC_000002.12:29193600:T:G Identity +NM_000404.4:c.561T>C NP_000395.3:p.Asn187= NC_000003.12:33058260:A:G p.(Asn187=) NC_000003.12:33058260:A:G p.(Asn187=) NC_000003.12:33058260:A:G Identity +NM_014639.4:c.2067T>C NP_055454.1:p.Asp689= NC_000005.10:95520762:A:G p.(Asp689=) NC_000005.10:95520762:A:G p.(Asp689=) NC_000005.10:95520762:A:G Identity +NM_001164277.2:c.537C>T NP_001157749.1:p.Val179= NC_000011.10:119027715:G:A p.(Val179=) NC_000011.10:119027715:G:A p.(Val179=) NC_000011.10:119027715:G:A Identity +NM_001293557.2:c.1462C>T NP_001280486.1:p.Leu488= NC_000016.10:50711453:C:T p.(Leu488=) NC_000016.10:50711453:C:T p.(Leu488=) NC_000016.10:50711453:C:T Identity +NM_001350626.2:c.2607G>C NP_001337555.1:p.Thr869= NC_000007.14:2538107:C:G p.(Thr869=) NC_000007.14:2538107:C:G p.(Thr869=) NC_000007.14:2538107:C:G Identity +NM_001111.5:c.504G>A NP_001102.3:p.Pro168= NC_000001.11:154602137:C:T p.(Pro168=) NC_000001.11:154602137:C:T p.(Pro168=) NC_000001.11:154602137:C:T Identity +NM_000448.3:c.1809T>C NP_000439.2:p.Asp603= NC_000011.10:36575112:T:C p.(Asp603=) NC_000011.10:36575112:T:C p.(Asp603=) NC_000011.10:36575112:T:C Identity +NM_000388.4:c.1884C>A NP_000379.3:p.Ala628= NC_000003.12:122283837:C:A p.(Ala628=) NC_000003.12:122283837:C:A p.(Ala628=) NC_000003.12:122283837:C:A Identity +NM_001352500.2:c.1239C>T NP_001339429.1:p.Ile413= NC_000013.11:49541760:G:A p.(Ile413=) NC_000013.11:49541760:G:A p.(Ile413=) NC_000013.11:49541760:G:A Identity +NM_001195573.1:c.954A>C NP_001182502.1:p.Ala318= NC_000014.9:95124617:T:G p.(Ala318=) NC_000014.9:95124617:T:G p.(Ala318=) NC_000014.9:95124617:T:G Identity +NM_001042494.2:c.1212C>T NP_001035959.1:p.Ala404= NC_000015.10:34251001:G:A p.(Ala404=) NC_000015.10:34251001:G:A p.(Ala404=) NC_000015.10:34251001:G:A Identity +NM_015627.3:c.423C>G NP_056442.2:p.Leu141= NC_000001.11:25557230:C:G p.(Leu141=) NC_000001.11:25557230:C:G p.(Leu141=) NC_000001.11:25557230:C:G Identity +LRG_143t2:c.10863C>T LRG_143p2:p.Ser3621= NC_000001.11:235677556:G:A ERR:Data provider error: ValueError: Transcript LRG_143t2 not found ERR:Data provider error: ValueError: Transcript LRG_143t2 not found ERR:AlignmentMapper(tx_ac=LRG_143t2, alt_ac=LRG_143t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_143t2, alt_ac=LRG_143t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_143t2 not found +NM_000920.4:c.1755C>T NP_000911.2:p.His585= NC_000011.10:66852508:G:A p.(His585=) NC_000011.10:66852508:G:A p.(His585=) NC_000011.10:66852508:G:A Identity +NM_000495.5:c.3012A>G NP_000486.1:p.Pro1004= NC_000023.11:108624329:A:G p.(Pro1004=) NC_000023.11:108624329:A:G p.(Pro1004=) NC_000023.11:108624329:A:G Identity +NM_001849.4:c.168C>T NP_001840.3:p.Ser56= NC_000021.9:46112030:C:T p.(Ser56=) NC_000021.9:46112030:C:T p.(Ser56=) NC_000021.9:46112030:C:T Identity +NM_000203.5:c.249C>A NP_000194.2:p.Arg83= NC_000004.12:987898:C:A p.(Arg83=) NC_000004.12:987898:C:A p.(Arg83=) NC_000004.12:987898:C:A Identity +NM_001350234.2:c.1083G>T NP_001337163.1:p.Ser361= NC_000001.11:9718755:G:T p.(Ser361=) NC_000001.11:9718755:G:T p.(Ser361=) NC_000001.11:9718755:G:T Identity +NM_017617.5:c.480C>T NP_060087.3:p.Ala160= NC_000009.12:136523111:G:A p.(Ala160=) NC_000009.12:136523111:G:A p.(Ala160=) NC_000009.12:136523111:G:A Identity +NM_006231.4:c.3153T>G NP_006222.2:p.Ser1051= NC_000012.12:132659416:A:C p.(Ser1051=) NC_000012.12:132659416:A:C p.(Ser1051=) NC_000012.12:132659416:A:C Identity +NM_001077494.3:c.1656C>T NP_001070962.1:p.Asp552= NC_000010.11:102400348:C:T p.(Asp552=) NC_000010.11:102400348:C:T p.(Asp552=) NC_000010.11:102400348:C:T Identity +NM_002618.4:c.450C>T NP_002609.1:p.Thr150= NC_000002.12:61031775:C:T p.(Thr150=) NC_000002.12:61031775:C:T p.(Thr150=) NC_000002.12:61031775:C:T Identity +NM_014244.5:c.2271C>T NP_055059.2:p.Asp757= NC_000005.10:179132248:G:A p.(Asp757=) NC_000005.10:179132248:G:A p.(Asp757=) NC_000005.10:179132248:G:A Identity +NM_001130066.2:c.3516G>A NP_001123538.1:p.Ser1172= NC_000006.12:33444592:G:A p.(Ser1172=) NC_000006.12:33444592:G:A p.(Ser1172=) NC_000006.12:33444592:G:A Identity +NM_199355.4:c.228T>C NP_955387.1:p.Ile76= NC_000016.10:77431561:A:G p.(Ile76=) NC_000016.10:77431561:A:G p.(Ile76=) NC_000016.10:77431561:A:G Identity +NM_000303.3:c.192C>T NP_000294.1:p.Tyr64= NC_000016.10:8804779:C:T p.(Tyr64=) NC_000016.10:8804779:C:T p.(Tyr64=) NC_000016.10:8804779:C:T Identity +NM_000153.4:c.174C>T NP_000144.2:p.Ile58= NC_000014.9:87992990:G:A p.(Ile58=) NC_000014.9:87992990:G:A p.(Ile58=) NC_000014.9:87992990:G:A Identity +NM_001323517.1:c.576C>T NP_001310446.1:p.Cys192= NC_000010.11:93592104:G:A p.(Cys192=) NC_000010.11:93592104:G:A p.(Cys192=) NC_000010.11:93592104:G:A Identity +NM_001347829.2:c.438C>G NP_001334758.1:p.Ala146= NC_000004.12:54263736:C:G p.(Ala146=) NC_000004.12:54263736:C:G p.(Ala146=) NC_000004.12:54263736:C:G Identity +NM_004949.5:c.1317T>C NP_004940.1:p.Asn439= NC_000018.10:31080298:A:G p.(Asn439=) NC_000018.10:31080298:A:G p.(Asn439=) NC_000018.10:31080298:A:G Identity +NM_017570.5:c.714C>T NP_060040.1:p.Asp238= NC_000008.11:144058564:G:A p.(Asp238=) NC_000008.11:144058564:G:A p.(Asp238=) NC_000008.11:144058564:G:A Identity +NM_000018.4:c.1302C>A NP_000009.1:p.Ile434= NC_000017.11:7223844:C:A p.(Ile434=) NC_000017.11:7223844:C:A p.(Ile434=) NC_000017.11:7223844:C:A Identity +NM_000553.6:c.1302G>T NP_000544.2:p.Thr434= NC_000008.11:31083730:G:T p.(Thr434=) NC_000008.11:31083730:G:T p.(Thr434=) NC_000008.11:31083730:G:T Identity +NM_000546.6:c.624C>T NP_000537.3:p.Asp208= NC_000017.11:7674906:G:A p.(Asp208=) NC_000017.11:7674906:G:A p.(Asp208=) NC_000017.11:7674906:G:A Identity +NM_199355.4:c.135C>G NP_955387.1:p.Ala45= NC_000016.10:77434460:G:C p.(Ala45=) NC_000016.10:77434460:G:C p.(Ala45=) NC_000016.10:77434460:G:C Identity +NM_000028.3:c.3879T>C NP_000019.2:p.Ala1293= NC_000001.11:99912446:T:C p.(Ala1293=) NC_000001.11:99912446:T:C p.(Ala1293=) NC_000001.11:99912446:T:C Identity +NM_000069.3:c.2229G>A NP_000060.2:p.Gly743= NC_000001.11:201070402:C:T p.(Gly743=) NC_000001.11:201070402:C:T p.(Gly743=) NC_000001.11:201070402:C:T Identity +NM_000260.4:c.2214G>A NP_000251.3:p.Val738= NC_000011.10:77177574:G:A p.(Val738=) NC_000011.10:77177574:G:A p.(Val738=) NC_000011.10:77177574:G:A Identity +NM_001131005.2:c.861C>T NP_001124477.1:p.Ser287= NC_000005.10:88729290:G:A p.(Ser287=) NC_000005.10:88729290:G:A p.(Ser287=) NC_000005.10:88729290:G:A Identity +NM_015164.4:c.2067G>A NP_055979.2:p.Ala689= NC_000001.11:15729181:G:A p.(Ala689=) NC_000001.11:15729181:G:A p.(Ala689=) NC_000001.11:15729181:G:A Identity +NM_001305275.2:c.1092C>T NP_001292204.1:p.Tyr364= NC_000001.11:1041616:C:T p.(Tyr364=) NC_000001.11:1041616:C:T p.(Tyr364=) NC_000001.11:1041616:C:T Identity +NM_004104.5:c.6819C>T NP_004095.4:p.Cys2273= NC_000017.11:82080698:G:A p.(Cys2273=) NC_000017.11:82080698:G:A p.(Cys2273=) NC_000017.11:82080698:G:A Identity +NM_001080124.2:c.1137G>A NP_001073593.1:p.Pro379= NC_000002.12:201285194:G:A p.(Pro379=) NC_000002.12:201285194:G:A p.(Pro379=) NC_000002.12:201285194:G:A Identity +NM_001164507.2:c.18738T>C NP_001157979.2:p.His6246= NC_000002.12:151562763:A:G p.(His6246=) NC_000002.12:151562763:A:G p.(His6246=) NC_000002.12:151562763:A:G Identity +NM_015346.4:c.7434A>C NP_056161.2:p.Ile2478= NC_000014.9:67748621:T:G p.(Ile2478=) NC_000014.9:67748621:T:G p.(Ile2478=) NC_000014.9:67748621:T:G Identity +NM_001145847.2:c.2124A>G NP_001139319.1:p.Leu708= NC_000004.12:15986016:T:C p.(Leu708=) NC_000004.12:15986016:T:C p.(Leu708=) NC_000004.12:15986016:T:C Identity +NM_000891.3:c.579T>G NP_000882.1:p.Leu193= NC_000017.11:70175617:T:G p.(Leu193=) NC_000017.11:70175617:T:G p.(Leu193=) NC_000017.11:70175617:T:G Identity +NM_001130823.3:c.1329C>T NP_001124295.1:p.Ile443= NC_000019.10:10156460:G:A p.(Ile443=) NC_000019.10:10156460:G:A p.(Ile443=) NC_000019.10:10156460:G:A Identity +NM_000170.3:c.837C>T NP_000161.2:p.Leu279= NC_000009.12:6605154:G:A p.(Leu279=) NC_000009.12:6605154:G:A p.(Leu279=) NC_000009.12:6605154:G:A Identity +NM_000395.3:c.1398C>T NP_000386.1:p.Tyr466= NC_000022.11:36935432:C:T p.(Tyr466=) NC_000022.11:36935432:C:T p.(Tyr466=) NC_000022.11:36935432:C:T Identity +NM_000532.5:c.1020C>T NP_000523.2:p.Ile340= NC_000003.12:136316993:C:T p.(Ile340=) NC_000003.12:136316993:C:T p.(Ile340=) NC_000003.12:136316993:C:T Identity +NM_001363813.1:c.63C>T NP_001350742.1:p.Ala21= NC_000017.11:65558557:G:A p.(Ala21=) NC_000017.11:65558557:G:A p.(Ala21=) NC_000017.11:65558557:G:A Identity +NM_000321.3:c.634C>T NP_000312.2:p.Leu212= NC_000013.11:48360042:C:T p.(Leu212=) NC_000013.11:48360042:C:T p.(Leu212=) NC_000013.11:48360042:C:T Identity +NM_001164507.2:c.13629G>A NP_001157979.2:p.Lys4543= NC_000002.12:151600600:C:T p.(Lys4543=) NC_000002.12:151600600:C:T p.(Lys4543=) NC_000002.12:151600600:C:T Identity +NM_000033.4:c.1773G>A NP_000024.2:p.Arg591= NC_000023.11:153740711:G:A p.(Arg591=) NC_000023.11:153740711:G:A p.(Arg591=) NC_000023.11:153740711:G:A Identity +NM_000404.4:c.1215A>C NP_000395.3:p.Thr405= NC_000003.12:33021583:T:G p.(Thr405=) NC_000003.12:33021583:T:G p.(Thr405=) NC_000003.12:33021583:T:G Identity +NM_001142800.2:c.6888T>C NP_001136272.1:p.His2296= NC_000006.12:63984549:A:G p.(His2296=) NC_000006.12:63984549:A:G p.(His2296=) NC_000006.12:63984549:A:G Identity +NM_001382.4:c.645T>C NP_001373.2:p.Gly215= NC_000011.10:119098485:A:G p.(Gly215=) NC_000011.10:119098485:A:G p.(Gly215=) NC_000011.10:119098485:A:G Identity +NM_000158.4:c.1638T>C NP_000149.4:p.Pro546= NC_000003.12:81537075:A:G p.(Pro546=) NC_000003.12:81537075:A:G p.(Pro546=) NC_000003.12:81537075:A:G Identity +NM_005732.4:c.1077C>G NP_005723.2:p.Arg359= NC_000005.10:132588711:C:G p.(Arg359=) NC_000005.10:132588711:C:G p.(Arg359=) NC_000005.10:132588711:C:G Identity +NM_000181.4:c.933G>A NP_000172.2:p.Thr311= NC_000007.14:65975050:C:T p.(Thr311=) NC_000007.14:65975050:C:T p.(Thr311=) NC_000007.14:65975050:C:T Identity +NM_000383.4:c.1206T>C NP_000374.1:p.Ser402= NC_000021.9:44293102:T:C p.(Ser402=) NC_000021.9:44293102:T:C p.(Ser402=) NC_000021.9:44293102:T:C Identity +NM_001164675.2:c.510T>C NP_001158147.1:p.Ile170= NC_000003.12:4449274:A:G p.(Ile170=) NC_000003.12:4449274:A:G p.(Ile170=) NC_000003.12:4449274:A:G Identity +NM_001375644.1:c.1059G>A NP_001362573.1:p.Gly353= NC_000004.12:145655235:G:A p.(Gly353=) NC_000004.12:145655235:G:A p.(Gly353=) NC_000004.12:145655235:G:A Identity +NM_001128844.3:c.2892C>T NP_001122316.1:p.Ile964= NC_000019.10:11023549:C:T p.(Ile964=) NC_000019.10:11023549:C:T p.(Ile964=) NC_000019.10:11023549:C:T Identity +NM_005045.4:c.7173T>C NP_005036.2:p.Ser2391= NC_000007.14:103539084:A:G p.(Ser2391=) NC_000007.14:103539084:A:G p.(Ser2391=) NC_000007.14:103539084:A:G Identity +NM_015102.5:c.1524G>A NP_055917.1:p.Ala508= NC_000001.11:5907201:C:T p.(Ala508=) NC_000001.11:5907201:C:T p.(Ala508=) NC_000001.11:5907201:C:T Identity +NM_004204.5:c.1378C>T NP_004195.2:p.Leu460= NC_000016.10:580224:C:T p.(Leu460=) NC_000016.10:580224:C:T p.(Leu460=) NC_000016.10:580224:C:T Identity +NM_001365999.1:c.9378G>A NP_001352928.1:p.Leu3126= NC_000001.11:43447635:G:A p.(Leu3126=) NC_000001.11:43447635:G:A p.(Leu3126=) NC_000001.11:43447635:G:A Identity +NM_000158.4:c.492G>A NP_000149.4:p.Val164= NC_000003.12:81649858:C:T p.(Val164=) NC_000003.12:81649858:C:T p.(Val164=) NC_000003.12:81649858:C:T Identity +NM_001164507.2:c.13653G>T NP_001157979.2:p.Val4551= NC_000002.12:151600576:C:A p.(Val4551=) NC_000002.12:151600576:C:A p.(Val4551=) NC_000002.12:151600576:C:A Identity +NM_000203.5:c.1686G>C NP_000194.2:p.Gly562= NC_000004.12:1003583:G:C p.(Gly562=) NC_000004.12:1003583:G:C p.(Gly562=) NC_000004.12:1003583:G:C Identity +NM_001171930.2:c.1104A>T NP_001165401.1:p.Pro368= NC_000010.11:71617362:A:T p.(Pro368=) NC_000010.11:71617362:A:T p.(Pro368=) NC_000010.11:71617362:A:T Identity +NM_000327.4:c.99C>T NP_000318.2:p.Gly33= NC_000011.10:62613379:C:T p.(Gly33=) NC_000011.10:62613379:C:T p.(Gly33=) NC_000011.10:62613379:C:T Identity +NM_001164313.2:c.540A>G NP_001157785.1:p.Ala180= NC_000006.12:109481486:T:C p.(Ala180=) NC_000006.12:109481486:T:C p.(Ala180=) NC_000006.12:109481486:T:C Identity +NM_000445.5:c.12222C>T NP_000436.2:p.Ile4074= NC_000008.11:143917679:G:A p.(Ile4074=) NC_000008.11:143917679:G:A p.(Ile4074=) NC_000008.11:143917679:G:A Identity +NM_005458.8:c.885G>A NP_005449.5:p.Thr295= NC_000009.12:98473259:C:T p.(Thr295=) NC_000009.12:98473259:C:T p.(Thr295=) NC_000009.12:98473259:C:T Identity +NM_000404.4:c.342G>A NP_000395.3:p.Leu114= NC_000003.12:33068873:C:T p.(Leu114=) NC_000003.12:33068873:C:T p.(Leu114=) NC_000003.12:33068873:C:T Identity +NM_182894.3:c.669G>A NP_878314.1:p.Gly223= NC_000014.9:74259690:G:A p.(Gly223=) NC_000014.9:74259690:G:A p.(Gly223=) NC_000014.9:74259690:G:A Identity +NM_001301834.1:c.168C>G NP_001288763.1:p.Pro56= NC_000012.12:6944590:C:G p.(Pro56=) NC_000012.12:6944590:C:G p.(Pro56=) NC_000012.12:6944590:C:G Identity +NM_001018037.2:c.8235C>T NP_001018047.1:p.Ser2745= NC_000009.12:77366752:C:T p.(Ser2745=) NC_000009.12:77366752:C:T p.(Ser2745=) NC_000009.12:77366752:C:T Identity +NM_001191028.3:c.1449A>G NP_001177957.2:p.Glu483= NC_000007.14:128990009:T:C p.(Glu483=) NC_000007.14:128990009:T:C p.(Glu483=) NC_000007.14:128990009:T:C Identity +NM_001164716.1:c.1698C>G NP_001158188.1:p.Ala566= NC_000011.10:64751331:G:C p.(Ala566=) NC_000011.10:64751331:G:C p.(Ala566=) NC_000011.10:64751331:G:C Identity +NM_006785.4:c.558C>A NP_006776.1:p.Gly186= NC_000018.10:58700499:C:A p.(Gly186=) NC_000018.10:58700499:C:A p.(Gly186=) NC_000018.10:58700499:C:A Identity +NM_000048.4:c.609C>A NP_000039.2:p.Ala203= NC_000007.14:66087339:C:A p.(Ala203=) NC_000007.14:66087339:C:A p.(Ala203=) NC_000007.14:66087339:C:A Identity +NM_001160227.2:c.99C>T NP_001153699.1:p.Val33= NC_000015.10:44663548:G:A p.(Val33=) NC_000015.10:44663548:G:A p.(Val33=) NC_000015.10:44663548:G:A Identity +NM_007123.6:c.1944T>C NP_009054.6:p.Thr648= NC_000001.11:216289306:A:G p.(Thr648=) NC_000001.11:216289306:A:G p.(Thr648=) NC_000001.11:216289306:A:G Identity +NM_001269039.3:c.1309T>C NP_001255968.1:p.Leu437= NC_000010.11:111009736:T:C p.(Leu437=) NC_000010.11:111009736:T:C p.(Leu437=) NC_000010.11:111009736:T:C Identity +NM_025099.6:c.3246C>T NP_079375.3:p.Ala1082= NC_000017.11:8228867:G:A p.(Ala1082=) NC_000017.11:8228867:G:A p.(Ala1082=) NC_000017.11:8228867:G:A Identity +NM_001374425.1:c.123G>A NP_001361354.1:p.Lys41= NC_000001.11:2410440:C:T p.(Lys41=) NC_000001.11:2410440:C:T p.(Lys41=) NC_000001.11:2410440:C:T Identity +NM_000027.4:c.741T>C NP_000018.2:p.Ala247= NC_000004.12:177434446:A:G p.(Ala247=) NC_000004.12:177434446:A:G p.(Ala247=) NC_000004.12:177434446:A:G Identity +NM_001350529.1:c.1092C>T NP_001337458.1:p.His364= NC_000001.11:150344231:C:T p.(His364=) NC_000001.11:150344231:C:T p.(His364=) NC_000001.11:150344231:C:T Identity +NM_001171933.1:c.837T>C NP_001165404.1:p.Tyr279= NC_000010.11:71802971:T:C p.(Tyr279=) NC_000010.11:71802971:T:C p.(Tyr279=) NC_000010.11:71802971:T:C Identity +NM_000192.3:c.1413G>A NP_000183.2:p.Gly471= NC_000012.12:114355675:C:T p.(Gly471=) NC_000012.12:114355675:C:T p.(Gly471=) NC_000012.12:114355675:C:T Identity +NM_001130965.3:c.174G>C NP_001124437.1:p.Leu58= NC_000007.14:838893:G:C p.(Leu58=) NC_000007.14:838893:G:C p.(Leu58=) NC_000007.14:838893:G:C Identity +NM_000199.5:c.1185C>T NP_000190.1:p.Pro395= NC_000017.11:80210775:G:A p.(Pro395=) NC_000017.11:80210775:G:A p.(Pro395=) NC_000017.11:80210775:G:A Identity +NM_000260.4:c.1947G>A NP_000251.3:p.Arg649= NC_000011.10:77174766:G:A p.(Arg649=) NC_000011.10:77174766:G:A p.(Arg649=) NC_000011.10:77174766:G:A Identity +NM_001292004.2:c.180C>T NP_001278933.1:p.Val60= NC_000005.10:74713588:C:T p.(Val60=) NC_000005.10:74713588:C:T p.(Val60=) NC_000005.10:74713588:C:T Identity +NM_001408512.1:c.726C>T NP_001395441.1:p.Cys242= NC_000017.11:43074466:G:A p.(Cys242=) NC_000017.11:43074466:G:A p.(Cys242=) NC_000017.11:43074466:G:A Identity +NM_005045.4:c.5982A>G NP_005036.2:p.Ser1994= NC_000007.14:103553550:T:C p.(Ser1994=) NC_000007.14:103553550:T:C p.(Ser1994=) NC_000007.14:103553550:T:C Identity +NM_033071.5:c.15813G>A NP_149062.2:p.Thr5271= NC_000006.12:152321777:C:T p.(Thr5271=) NC_000006.12:152321777:C:T p.(Thr5271=) NC_000006.12:152321777:C:T Identity +NM_000426.4:c.5283C>T NP_000417.3:p.Ser1761= NC_000006.12:129393092:C:T p.(Ser1761=) NC_000006.12:129393092:C:T p.(Ser1761=) NC_000006.12:129393092:C:T Identity +NM_000203.5:c.804C>T NP_000194.2:p.Ser268= NC_000004.12:1001992:C:T p.(Ser268=) NC_000004.12:1001992:C:T p.(Ser268=) NC_000004.12:1001992:C:T Identity +NM_000243.3:c.2220C>A NP_000234.1:p.Ile740= NC_000016.10:3243266:G:T p.(Ile740=) NC_000016.10:3243266:G:T p.(Ile740=) NC_000016.10:3243266:G:T Identity +NM_000158.4:c.1215C>T NP_000149.4:p.Pro405= NC_000003.12:81591057:G:A p.(Pro405=) NC_000003.12:81591057:G:A p.(Pro405=) NC_000003.12:81591057:G:A Identity +NM_001289155.2:c.78A>G NP_001276084.1:p.Glu26= NC_000015.10:74890587:A:G p.(Glu26=) NC_000015.10:74890587:A:G p.(Glu26=) NC_000015.10:74890587:A:G Identity +NM_001293557.2:c.573A>T NP_001280486.1:p.Thr191= NC_000016.10:50710564:A:T p.(Thr191=) NC_000016.10:50710564:A:T p.(Thr191=) NC_000016.10:50710564:A:T Identity +NM_015164.4:c.732G>A NP_055979.2:p.Thr244= NC_000001.11:15725335:G:A p.(Thr244=) NC_000001.11:15725335:G:A p.(Thr244=) NC_000001.11:15725335:G:A Identity +NM_001099679.2:c.216C>T NP_001093149.1:p.Ser72= NC_000009.12:116697957:C:T p.(Ser72=) NC_000009.12:116697957:C:T p.(Ser72=) NC_000009.12:116697957:C:T Identity +NM_001378454.1:c.5835G>A NP_001365383.1:p.Glu1945= NC_000002.12:73452361:G:A p.(Glu1945=) NC_000002.12:73452361:G:A p.(Glu1945=) NC_000002.12:73452361:G:A Identity +NM_000094.4:c.2919T>C NP_000085.1:p.Thr973= NC_000003.12:48587492:A:G p.(Thr973=) NC_000003.12:48587492:A:G p.(Thr973=) NC_000003.12:48587492:A:G Identity +NM_001081955.3:c.1930T>C NP_001075424.1:p.Leu644= NC_000017.11:65227320:T:C p.(Leu644=) NC_000017.11:65227320:T:C p.(Leu644=) NC_000017.11:65227320:T:C Identity +NM_001199771.3:c.297C>T NP_001186700.1:p.His99= NC_000012.12:55721480:C:T p.(His99=) NC_000012.12:55721480:C:T p.(His99=) NC_000012.12:55721480:C:T Identity +NM_002471.4:c.2958G>C NP_002462.2:p.Gly986= NC_000014.9:23393488:C:G p.(Gly986=) NC_000014.9:23393488:C:G p.(Gly986=) NC_000014.9:23393488:C:G Identity +NM_001100626.2:c.177T>C NP_001094096.1:p.Thr59= NC_000010.11:100183773:A:G p.(Thr59=) NC_000010.11:100183773:A:G p.(Thr59=) NC_000010.11:100183773:A:G Identity +NM_001130067.2:c.279T>C NP_001123539.1:p.Thr93= NC_000004.12:153276036:T:C p.(Thr93=) NC_000004.12:153276036:T:C p.(Thr93=) NC_000004.12:153276036:T:C Identity +NM_001317184.2:c.2409A>G NP_001304113.1:p.Glu803= NC_000016.10:68833441:A:G p.(Glu803=) NC_000016.10:68833441:A:G p.(Glu803=) NC_000016.10:68833441:A:G Identity +NM_000540.3:c.2931G>A NP_000531.2:p.Thr977= NC_000019.10:38466150:G:A p.(Thr977=) NC_000019.10:38466150:G:A p.(Thr977=) NC_000019.10:38466150:G:A Identity +NM_014141.6:c.3021A>G NP_054860.1:p.Ala1007= NC_000007.14:148217297:A:G p.(Ala1007=) NC_000007.14:148217297:A:G p.(Ala1007=) NC_000007.14:148217297:A:G Identity +NM_000806.5:c.459C>T NP_000797.2:p.Thr153= NC_000005.10:161873319:C:T p.(Thr153=) NC_000005.10:161873319:C:T p.(Thr153=) NC_000005.10:161873319:C:T Identity +NM_000046.5:c.324T>C NP_000037.2:p.Gly108= NC_000005.10:78969180:A:G p.(Gly108=) NC_000005.10:78969180:A:G p.(Gly108=) NC_000005.10:78969180:A:G Identity +NM_000335.5:c.1995A>G NP_000326.2:p.Ala665= NC_000003.12:38598945:T:C p.(Ala665=) NC_000003.12:38598945:T:C p.(Ala665=) NC_000003.12:38598945:T:C Identity +NM_001303256.3:c.760A>C NP_001290185.1:p.Arg254= NC_000022.11:30941496:T:G p.(Arg254=) NC_000022.11:30941496:T:G p.(Arg254=) NC_000022.11:30941496:T:G Identity +NM_015180.6:c.14700C>T NP_055995.4:p.Asn4900= NC_000014.9:64137839:C:T p.(Asn4900=) NC_000014.9:64137839:C:T p.(Asn4900=) NC_000014.9:64137839:C:T Identity +NM_000151.4:c.870G>A NP_000142.2:p.Lys290= NC_000017.11:42911221:G:A p.(Lys290=) NC_000017.11:42911221:G:A p.(Lys290=) NC_000017.11:42911221:G:A Identity +NM_001077269.1:c.159C>T NP_001070737.1:p.Asp53= NC_000002.12:174581331:G:A p.(Asp53=) NC_000002.12:174581331:G:A p.(Asp53=) NC_000002.12:174581331:G:A Identity +NM_003659.4:c.360T>C NP_003650.1:p.Leu120= NC_000002.12:177434335:T:C p.(Leu120=) NC_000002.12:177434335:T:C p.(Leu120=) NC_000002.12:177434335:T:C Identity +NM_000441.2:c.1647A>G NP_000432.1:p.Arg549= NC_000007.14:107700114:A:G p.(Arg549=) NC_000007.14:107700114:A:G p.(Arg549=) NC_000007.14:107700114:A:G Identity +NM_000046.5:c.531C>T NP_000037.2:p.Ser177= NC_000005.10:78964574:G:A p.(Ser177=) NC_000005.10:78964574:G:A p.(Ser177=) NC_000005.10:78964574:G:A Identity +NM_005373.3:c.1573A>C NP_005364.1:p.Arg525= NC_000001.11:43352222:A:C p.(Arg525=) NC_000001.11:43352222:A:C p.(Arg525=) NC_000001.11:43352222:A:C Identity +NM_000244.4:c.159C>G NP_000235.3:p.Val53= NC_000011.10:64809950:G:C p.(Val53=) NC_000011.10:64809950:G:C p.(Val53=) NC_000011.10:64809950:G:C Identity +NM_004260.4:c.2466C>A NP_004251.4:p.Gly822= NC_000008.11:144513135:G:T p.(Gly822=) NC_000008.11:144513135:G:T p.(Gly822=) NC_000008.11:144513135:G:T Identity +NM_001130009.3:c.249T>A NP_001123481.3:p.Ala83= NC_000002.12:17761482:T:A p.(Ala83=) NC_000002.12:17761482:T:A p.(Ala83=) NC_000002.12:17761482:T:A Identity +NM_001039476.3:c.510C>T NP_001034565.1:p.Ala170= NC_000016.10:92709:G:A p.(Ala170=) NC_000016.10:92709:G:A p.(Ala170=) NC_000016.10:92709:G:A Identity +NM_000339.3:c.996C>T NP_000330.3:p.Asp332= NC_000016.10:56872686:C:T p.(Asp332=) NC_000016.10:56872686:C:T p.(Asp332=) NC_000016.10:56872686:C:T Identity +NM_001035.3:c.3966C>G NP_001026.2:p.Leu1322= NC_000001.11:237590797:C:G p.(Leu1322=) NC_000001.11:237590797:C:G p.(Leu1322=) NC_000001.11:237590797:C:G Identity +NM_001144881.2:c.1596T>C NP_001138353.1:p.Ser532= NC_000012.12:42464437:A:G p.(Ser532=) NC_000012.12:42464437:A:G p.(Ser532=) NC_000012.12:42464437:A:G Identity +NM_007123.6:c.1344C>A NP_009054.6:p.Ser448= NC_000001.11:216323679:G:T p.(Ser448=) NC_000001.11:216323679:G:T p.(Ser448=) NC_000001.11:216323679:G:T Identity +NM_001033855.3:c.141G>A NP_001029027.1:p.Leu47= NC_000010.11:14949055:C:T p.(Leu47=) NC_000010.11:14949055:C:T p.(Leu47=) NC_000010.11:14949055:C:T Identity +NM_005214.5:c.516G>A NP_005205.2:p.Ser172= NC_000002.12:203871435:G:A p.(Ser172=) NC_000002.12:203871435:G:A p.(Ser172=) NC_000002.12:203871435:G:A Identity +NM_001563.4:c.123A>G NP_001554.2:p.Arg41= NC_000006.12:76042070:T:C p.(Arg41=) NC_000006.12:76042070:T:C p.(Arg41=) NC_000006.12:76042070:T:C Identity +NM_000920.4:c.228C>T NP_000911.2:p.His76= NC_000011.10:66871779:G:A p.(His76=) NC_000011.10:66871779:G:A p.(His76=) NC_000011.10:66871779:G:A Identity +NM_001282933.2:c.1452C>T NP_001269862.1:p.Phe484= NC_000020.11:33770121:C:T p.(Phe484=) NC_000020.11:33770121:C:T p.(Phe484=) NC_000020.11:33770121:C:T Identity +NM_000091.5:c.3498C>T NP_000082.2:p.Ala1166= NC_000002.12:227295042:C:T p.(Ala1166=) NC_000002.12:227295042:C:T p.(Ala1166=) NC_000002.12:227295042:C:T Identity +NM_001008222.3:c.51C>T NP_001008223.1:p.Leu17= NC_000023.11:129841894:G:A p.(Leu17=) NC_000023.11:129841894:G:A p.(Leu17=) NC_000023.11:129841894:G:A Identity +NM_001350626.2:c.2334G>A NP_001337555.1:p.Lys778= NC_000007.14:2538380:C:T p.(Lys778=) NC_000007.14:2538380:C:T p.(Lys778=) NC_000007.14:2538380:C:T Identity +NM_000342.4:c.102G>A NP_000333.1:p.Pro34= NC_000017.11:44262639:C:T p.(Pro34=) NC_000017.11:44262639:C:T p.(Pro34=) NC_000017.11:44262639:C:T Identity +NM_000057.4:c.4038G>A NP_000048.1:p.Lys1346= NC_000015.10:90811367:G:A p.(Lys1346=) NC_000015.10:90811367:G:A p.(Lys1346=) NC_000015.10:90811367:G:A Identity +NM_001164507.2:c.17091C>A NP_001157979.2:p.Ala5697= NC_000002.12:151570523:G:T p.(Ala5697=) NC_000002.12:151570523:G:T p.(Ala5697=) NC_000002.12:151570523:G:T Identity +NM_000378.6:c.1440G>C NP_000369.4:p.Arg480= NC_000011.10:32389126:C:G p.(Arg480=) NC_000011.10:32389126:C:G p.(Arg480=) NC_000011.10:32389126:C:G Identity +NM_001378454.1:c.837G>A NP_001365383.1:p.Gln279= NC_000002.12:73424501:G:A p.(Gln279=) NC_000002.12:73424501:G:A p.(Gln279=) NC_000002.12:73424501:G:A Identity +NM_133259.4:c.3690G>A NP_573566.2:p.Leu1230= NC_000002.12:43899484:C:T p.(Leu1230=) NC_000002.12:43899484:C:T p.(Leu1230=) NC_000002.12:43899484:C:T Identity +NM_001126336.3:c.1089T>C NP_001119808.1:p.Cys363= NC_000005.10:83545582:T:C p.(Cys363=) NC_000005.10:83545582:T:C p.(Cys363=) NC_000005.10:83545582:T:C Identity +NM_001352253.3:c.141C>T NP_001339182.1:p.Gly47= NC_000013.11:110705952:G:A p.(Gly47=) NC_000013.11:110705952:G:A p.(Gly47=) NC_000013.11:110705952:G:A Identity +NM_000282.4:c.2136T>C NP_000273.2:p.Cys712= NC_000013.11:100530114:T:C p.(Cys712=) NC_000013.11:100530114:T:C p.(Cys712=) NC_000013.11:100530114:T:C Identity +NM_001364440.2:c.1803C>T NP_001351369.1:p.Ile601= NC_000005.10:7897097:C:T p.(Ile601=) NC_000005.10:7897097:C:T p.(Ile601=) NC_000005.10:7897097:C:T Identity +NM_005562.3:c.30C>T NP_005553.2:p.Leu10= NC_000001.11:183186381:C:T p.(Leu10=) NC_000001.11:183186381:C:T p.(Leu10=) NC_000001.11:183186381:C:T Identity +NM_000182.5:c.1015T>C NP_000173.2:p.Leu339= NC_000002.12:26209849:A:G p.(Leu339=) NC_000002.12:26209849:A:G p.(Leu339=) NC_000002.12:26209849:A:G Identity +NM_012469.4:c.393T>C NP_036601.2:p.Tyr131= NC_000020.11:63993439:T:C p.(Tyr131=) NC_000020.11:63993439:T:C p.(Tyr131=) NC_000020.11:63993439:T:C Identity +NM_001308133.2:c.2925C>T NP_001295062.1:p.Leu975= NC_000014.9:45175756:C:T p.(Leu975=) NC_000014.9:45175756:C:T p.(Leu975=) NC_000014.9:45175756:C:T Identity +NM_001370085.1:c.1014C>T NP_001357014.1:p.Ala338= NC_000020.11:763556:G:A p.(Ala338=) NC_000020.11:763556:G:A p.(Ala338=) NC_000020.11:763556:G:A Identity +NM_002506.3:c.480G>A NP_002497.2:p.Leu160= NC_000001.11:115286315:C:T p.(Leu160=) NC_000001.11:115286315:C:T p.(Leu160=) NC_000001.11:115286315:C:T Identity +NM_001135659.3:c.1449T>C NP_001129131.1:p.Tyr483= NC_000002.12:50553016:A:G p.(Tyr483=) NC_000002.12:50553016:A:G p.(Tyr483=) NC_000002.12:50553016:A:G Identity +NM_001166136.2:c.589C>T NP_001159608.1:p.Leu197= NC_000004.12:5681300:G:A p.(Leu197=) NC_000004.12:5681300:G:A p.(Leu197=) NC_000004.12:5681300:G:A Identity +NM_001377456.1:c.888T>C NP_001364385.1:p.Asp296= NC_000016.10:56502724:A:G p.(Asp296=) NC_000016.10:56502724:A:G p.(Asp296=) NC_000016.10:56502724:A:G Identity +NM_206933.4:c.7908T>A NP_996816.3:p.Thr2636= NC_000001.11:215888740:A:T p.(Thr2636=) NC_000001.11:215888740:A:T p.(Thr2636=) NC_000001.11:215888740:A:T Identity +NM_001349370.3:c.210T>C NP_001336299.1:p.Pro70= NC_000003.12:47124293:A:G p.(Pro70=) NC_000003.12:47124293:A:G p.(Pro70=) NC_000003.12:47124293:A:G Identity +NM_001126105.3:c.864A>G NP_001119577.1:p.Arg288= NC_000014.9:22776224:T:C p.(Arg288=) NC_000014.9:22776224:T:C p.(Arg288=) NC_000014.9:22776224:T:C Identity +NM_015346.4:c.2505A>G NP_056161.2:p.Ser835= NC_000014.9:67793655:T:C p.(Ser835=) NC_000014.9:67793655:T:C p.(Ser835=) NC_000014.9:67793655:T:C Identity +NM_000180.4:c.2184C>T NP_000171.1:p.Asp728= NC_000017.11:8013172:C:T p.(Asp728=) NC_000017.11:8013172:C:T p.(Asp728=) NC_000017.11:8013172:C:T Identity +NM_001256850.1:c.49065T>C NP_001243779.1:p.Pro16355= NC_000002.12:178605188:A:G p.(Pro16355=) NC_000002.12:178605188:A:G p.(Pro16355=) NC_000002.12:178605188:A:G Identity +NM_032806.6:c.1416G>A NP_116195.2:p.Arg472= NC_000003.12:43080015:C:T p.(Arg472=) NC_000003.12:43080015:C:T p.(Arg472=) NC_000003.12:43080015:C:T Identity +NM_001374782.1:c.147C>T NP_001361711.1:p.Tyr49= NC_000010.11:51074736:C:T p.(Tyr49=) NC_000010.11:51074736:C:T p.(Tyr49=) NC_000010.11:51074736:C:T Identity +NM_001127215.3:c.69A>G NP_001120687.1:p.Pro23= NC_000001.11:92483418:T:C p.(Pro23=) NC_000001.11:92483418:T:C p.(Pro23=) NC_000001.11:92483418:T:C Identity +NM_000359.3:c.1380C>T NP_000350.1:p.Ala460= NC_000014.9:24258306:G:A p.(Ala460=) NC_000014.9:24258306:G:A p.(Ala460=) NC_000014.9:24258306:G:A Identity +NM_006950.3:c.1362G>A NP_008881.2:p.Gly454= NC_000023.11:47574718:C:T p.(Gly454=) NC_000023.11:47574718:C:T p.(Gly454=) NC_000023.11:47574718:C:T Identity +NM_001031714.4:c.1254G>A NP_001026884.3:p.Ala418= NC_000014.9:104707520:G:A p.(Ala418=) NC_000014.9:104707520:G:A p.(Ala418=) NC_000014.9:104707520:G:A Identity +NM_004281.4:c.96G>A NP_004272.2:p.Pro32= NC_000010.11:119651770:G:A p.(Pro32=) NC_000010.11:119651770:G:A p.(Pro32=) NC_000010.11:119651770:G:A Identity +NM_000784.4:c.732C>T NP_000775.1:p.Ile244= NC_000002.12:218812636:C:T p.(Ile244=) NC_000002.12:218812636:C:T p.(Ile244=) NC_000002.12:218812636:C:T Identity +NM_001031847.3:c.75T>C NP_001027017.1:p.His25= NC_000011.10:68815399:A:G p.(His25=) NC_000011.10:68815399:A:G p.(His25=) NC_000011.10:68815399:A:G Identity +NM_001171.6:c.3600C>T NP_001162.5:p.Gly1200= NC_000016.10:16161470:G:A p.(Gly1200=) NC_000016.10:16161470:G:A p.(Gly1200=) NC_000016.10:16161470:G:A Identity +NM_001032283.3:c.462A>G NP_001027454.1:p.Thr154= NC_000012.12:98531734:A:G p.(Thr154=) NC_000012.12:98531734:A:G p.(Thr154=) NC_000012.12:98531734:A:G Identity +NM_001278055.2:c.1968C>T NP_001264984.1:p.Ile656= NC_000013.11:23341466:G:A p.(Ile656=) NC_000013.11:23341466:G:A p.(Ile656=) NC_000013.11:23341466:G:A Identity +NM_001142294.2:c.486A>G NP_001135766.1:p.Pro162= NC_000013.11:36335344:T:C p.(Pro162=) NC_000013.11:36335344:T:C p.(Pro162=) NC_000013.11:36335344:T:C Identity +NM_006267.5:c.366C>A NP_006258.3:p.Ala122= NC_000002.12:108731434:C:A p.(Ala122=) NC_000002.12:108731434:C:A p.(Ala122=) NC_000002.12:108731434:C:A Identity +NM_015450.3:c.270A>G NP_056265.2:p.Lys90= NC_000007.14:124863625:T:C p.(Lys90=) NC_000007.14:124863625:T:C p.(Lys90=) NC_000007.14:124863625:T:C Identity +NM_032888.4:c.570A>G NP_116277.2:p.Ala190= NC_000009.12:114168124:A:G p.(Ala190=) NC_000009.12:114168124:A:G p.(Ala190=) NC_000009.12:114168124:A:G Identity +NM_000068.4:c.1026C>G NP_000059.3:p.Pro342= NC_000019.10:13335861:G:C p.(Pro342=) NC_000019.10:13335861:G:C p.(Pro342=) NC_000019.10:13335861:G:C Identity +NM_003079.5:c.423T>C NP_003070.3:p.Ala141= NC_000017.11:40636048:A:G p.(Ala141=) NC_000017.11:40636048:A:G p.(Ala141=) NC_000017.11:40636048:A:G Identity +NM_000445.5:c.7311G>A NP_000436.2:p.Ala2437= NC_000008.11:143922698:C:T p.(Ala2437=) NC_000008.11:143922698:C:T p.(Ala2437=) NC_000008.11:143922698:C:T Identity +NM_015384.5:c.2877G>A NP_056199.2:p.Pro959= NC_000005.10:36986056:G:A p.(Pro959=) NC_000005.10:36986056:G:A p.(Pro959=) NC_000005.10:36986056:G:A Identity +NM_001291902.2:c.882C>T NP_001278831.1:p.Ser294= NC_000011.10:68413809:C:T p.(Ser294=) NC_000011.10:68413809:C:T p.(Ser294=) NC_000011.10:68413809:C:T Identity +NM_006231.4:c.6816G>A NP_006222.2:p.Glu2272= NC_000012.12:132624741:C:T p.(Glu2272=) NC_000012.12:132624741:C:T p.(Glu2272=) NC_000012.12:132624741:C:T Identity +NM_001193640.2:c.2763A>G NP_001180569.1:p.Thr921= NC_000001.11:197434961:A:G p.(Thr921=) NC_000001.11:197434961:A:G p.(Thr921=) NC_000001.11:197434961:A:G Identity +NM_001346897.2:c.1125T>C NP_001333826.1:p.Phe375= NC_000007.14:55157714:T:C p.(Phe375=) NC_000007.14:55157714:T:C p.(Phe375=) NC_000007.14:55157714:T:C Identity +NM_001352500.2:c.780C>T NP_001339429.1:p.Asn260= NC_000013.11:49551399:G:A p.(Asn260=) NC_000013.11:49551399:G:A p.(Asn260=) NC_000013.11:49551399:G:A Identity +NM_001458.5:c.5031G>A NP_001449.3:p.Lys1677= NC_000007.14:128849409:G:A p.(Lys1677=) NC_000007.14:128849409:G:A p.(Lys1677=) NC_000007.14:128849409:G:A Identity +NM_000548.5:c.564C>T NP_000539.2:p.Ser188= NC_000016.10:2055483:C:T p.(Ser188=) NC_000016.10:2055483:C:T p.(Ser188=) NC_000016.10:2055483:C:T Identity +NM_000326.5:c.870G>A NP_000317.1:p.Gly290= NC_000015.10:89210368:C:T p.(Gly290=) NC_000015.10:89210368:C:T p.(Gly290=) NC_000015.10:89210368:C:T Identity +NM_001166111.2:c.321T>C NP_001159583.1:p.Tyr107= NC_000019.10:7536251:T:C p.(Tyr107=) NC_000019.10:7536251:T:C p.(Tyr107=) NC_000019.10:7536251:T:C Identity +NM_001142763.2:c.4092A>G NP_001136235.1:p.Ala1364= NC_000010.11:53831439:T:C p.(Ala1364=) NC_000010.11:53831439:T:C p.(Ala1364=) NC_000010.11:53831439:T:C Identity +NM_001318360.2:c.3144G>A NP_001305289.1:p.Glu1048= NC_000009.12:108879531:C:T p.(Glu1048=) NC_000009.12:108879531:C:T p.(Glu1048=) NC_000009.12:108879531:C:T Identity +NM_001114331.3:c.1905C>T NP_001107803.1:p.Asn635= NC_000016.10:1448390:G:A p.(Asn635=) NC_000016.10:1448390:G:A p.(Asn635=) NC_000016.10:1448390:G:A Identity +NM_000321.3:c.1881T>C NP_000312.2:p.Asn627= NC_000013.11:48456269:T:C p.(Asn627=) NC_000013.11:48456269:T:C p.(Asn627=) NC_000013.11:48456269:T:C Identity +NM_001035.3:c.5193G>A NP_001026.2:p.Glu1731= NC_000001.11:237614320:G:A p.(Glu1731=) NC_000001.11:237614320:G:A p.(Glu1731=) NC_000001.11:237614320:G:A Identity +NM_001035.3:c.6858A>G NP_001026.2:p.Pro2286= NC_000001.11:237638421:A:G p.(Pro2286=) NC_000001.11:237638421:A:G p.(Pro2286=) NC_000001.11:237638421:A:G Identity +NM_001256468.2:c.2706A>G NP_001243397.1:p.Glu902= NC_000010.11:75022113:A:G p.(Glu902=) NC_000010.11:75022113:A:G p.(Glu902=) NC_000010.11:75022113:A:G Identity +NM_001126336.3:c.1275C>T NP_001119808.1:p.Thr425= NC_000005.10:83553367:C:T p.(Thr425=) NC_000005.10:83553367:C:T p.(Thr425=) NC_000005.10:83553367:C:T Identity +NM_000135.4:c.1797C>A NP_000126.2:p.Ser599= NC_000016.10:89778829:G:T p.(Ser599=) NC_000016.10:89778829:G:T p.(Ser599=) NC_000016.10:89778829:G:T Identity +NM_001177643.3:c.333C>T NP_001171114.2:p.Asp111= NC_000003.12:49530843:C:T p.(Asp111=) NC_000003.12:49530843:C:T p.(Asp111=) NC_000003.12:49530843:C:T Identity +NM_000287.4:c.2478G>A NP_000278.3:p.Val826= NC_000006.12:42965361:C:T p.(Val826=) NC_000006.12:42965361:C:T p.(Val826=) NC_000006.12:42965361:C:T Identity +NM_001164507.2:c.5244C>G NP_001157979.2:p.Leu1748= NC_000002.12:151664857:G:C p.(Leu1748=) NC_000002.12:151664857:G:C p.(Leu1748=) NC_000002.12:151664857:G:C Identity +NM_001164507.2:c.6597C>T NP_001157979.2:p.Ala2199= NC_000002.12:151655921:G:A p.(Ala2199=) NC_000002.12:151655921:G:A p.(Ala2199=) NC_000002.12:151655921:G:A Identity +NM_022114.4:c.2457G>A NP_071397.3:p.Gly819= NC_000001.11:3412653:G:A p.(Gly819=) NC_000001.11:3412653:G:A p.(Gly819=) NC_000001.11:3412653:G:A Identity +NM_000426.4:c.7338G>A NP_000417.3:p.Glu2446= NC_000006.12:129473250:G:A p.(Glu2446=) NC_000006.12:129473250:G:A p.(Glu2446=) NC_000006.12:129473250:G:A Identity +NM_001165966.2:c.921C>T NP_001159438.1:p.Ser307= NC_000017.11:6477084:G:A p.(Ser307=) NC_000017.11:6477084:G:A p.(Ser307=) NC_000017.11:6477084:G:A Identity +NM_000528.4:c.2802C>T NP_000519.2:p.Pro934= NC_000019.10:12647460:G:A p.(Pro934=) NC_000019.10:12647460:G:A p.(Pro934=) NC_000019.10:12647460:G:A Identity +NM_001127214.4:c.1587C>T NP_001120686.1:p.Ser529= NC_000016.10:89146022:C:T p.(Ser529=) NC_000016.10:89146022:C:T p.(Ser529=) NC_000016.10:89146022:C:T Identity +NM_001004334.4:c.2838G>A NP_001004334.3:p.Gly946= NC_000017.11:38330730:C:T p.(Gly946=) NC_000017.11:38330730:C:T p.(Gly946=) NC_000017.11:38330730:C:T Identity +NM_001317163.2:c.1341T>C NP_001304092.1:p.Asp447= NC_000009.12:121020158:A:G p.(Asp447=) NC_000009.12:121020158:A:G p.(Asp447=) NC_000009.12:121020158:A:G Identity +NM_000742.4:c.1515C>T NP_000733.2:p.Leu505= NC_000008.11:27461703:G:A p.(Leu505=) NC_000008.11:27461703:G:A p.(Leu505=) NC_000008.11:27461703:G:A Identity +NM_000135.4:c.3615G>A NP_000126.2:p.Gln1205= NC_000016.10:89744969:C:T p.(Gln1205=) NC_000016.10:89744969:C:T p.(Gln1205=) NC_000016.10:89744969:C:T Identity +NM_002900.3:c.2865C>T NP_002891.1:p.Ala955= NC_000010.11:47351348:C:T p.(Ala955=) NC_000010.11:47351348:C:T p.(Ala955=) NC_000010.11:47351348:C:T Identity +NM_000449.4:c.687C>T NP_000440.1:p.Phe229= NC_000001.11:151343750:G:A p.(Phe229=) NC_000001.11:151343750:G:A p.(Phe229=) NC_000001.11:151343750:G:A Identity +NM_000321.3:c.99A>G NP_000312.2:p.Pro33= NC_000013.11:48304010:A:G p.(Pro33=) NC_000013.11:48304010:A:G p.(Pro33=) NC_000013.11:48304010:A:G Identity +NM_001039958.2:c.18T>A NP_001035047.1:p.Pro6= NC_000015.10:89776374:T:A p.(Pro6=) NC_000015.10:89776374:T:A p.(Pro6=) NC_000015.10:89776374:T:A Identity +NM_012327.6:c.669C>T NP_036459.1:p.Ser223= NC_000018.10:62148218:G:A p.(Ser223=) NC_000018.10:62148218:G:A p.(Ser223=) NC_000018.10:62148218:G:A Identity +NM_001278055.2:c.3921A>G NP_001264984.1:p.Ser1307= NC_000013.11:23339513:T:C p.(Ser1307=) NC_000013.11:23339513:T:C p.(Ser1307=) NC_000013.11:23339513:T:C Identity +NM_012193.4:c.1158C>T NP_036325.2:p.Ala386= NC_000011.10:86951597:G:A p.(Ala386=) NC_000011.10:86951597:G:A p.(Ala386=) NC_000011.10:86951597:G:A Identity +NM_001347828.2:c.315T>C NP_001334757.1:p.Leu105= NC_000004.12:54261284:T:C p.(Leu105=) NC_000004.12:54261284:T:C p.(Leu105=) NC_000004.12:54261284:T:C Identity +NM_001378454.1:c.795A>G NP_001365383.1:p.Glu265= NC_000002.12:73424459:A:G p.(Glu265=) NC_000002.12:73424459:A:G p.(Glu265=) NC_000002.12:73424459:A:G Identity +NM_000051.4:c.2586T>C NP_000042.3:p.Pro862= NC_000011.10:108267289:T:C p.(Pro862=) NC_000011.10:108267289:T:C p.(Pro862=) NC_000011.10:108267289:T:C Identity +NM_004281.4:c.1215T>C NP_004272.2:p.Ala405= NC_000010.11:119676768:T:C p.(Ala405=) NC_000010.11:119676768:T:C p.(Ala405=) NC_000010.11:119676768:T:C Identity +NM_001999.4:c.6993C>T NP_001990.2:p.Pro2331= NC_000005.10:128286736:G:A p.(Pro2331=) NC_000005.10:128286736:G:A p.(Pro2331=) NC_000005.10:128286736:G:A Identity +NM_000553.6:c.2359C>T NP_000544.2:p.Leu787= NC_000008.11:31116438:C:T p.(Leu787=) NC_000008.11:31116438:C:T p.(Leu787=) NC_000008.11:31116438:C:T Identity +NM_001410805.1:c.1488G>A NP_001397734.1:p.Arg496= NC_000003.12:128912597:G:A p.(Arg496=) NC_000003.12:128912597:G:A p.(Arg496=) NC_000003.12:128912597:G:A Identity +NM_001363813.1:c.669C>A NP_001350742.1:p.Gly223= NC_000017.11:65557951:G:T p.(Gly223=) NC_000017.11:65557951:G:T p.(Gly223=) NC_000017.11:65557951:G:T Identity +NM_001365536.1:c.4164C>T NP_001352465.1:p.Asn1388= NC_000002.12:166228732:G:A p.(Asn1388=) NC_000002.12:166228732:G:A p.(Asn1388=) NC_000002.12:166228732:G:A Identity +NM_024529.5:c.159G>A NP_078805.3:p.Glu53= NC_000001.11:193125138:G:A p.(Glu53=) NC_000001.11:193125138:G:A p.(Glu53=) NC_000001.11:193125138:G:A Identity +NM_000057.4:c.2172C>T NP_000048.1:p.Val724= NC_000015.10:90765392:C:T p.(Val724=) NC_000015.10:90765392:C:T p.(Val724=) NC_000015.10:90765392:C:T Identity +NM_001294332.2:c.189T>C NP_001281261.1:p.Asp63= NC_000005.10:224397:T:C p.(Asp63=) NC_000005.10:224397:T:C p.(Asp63=) NC_000005.10:224397:T:C Identity +NM_001105243.2:c.2997C>T NP_001098713.1:p.Pro999= NC_000023.11:100296585:G:A p.(Pro999=) NC_000023.11:100296585:G:A p.(Pro999=) NC_000023.11:100296585:G:A Identity +NM_000282.4:c.897G>C NP_000273.2:p.Val299= NC_000013.11:100268765:G:C p.(Val299=) NC_000013.11:100268765:G:C p.(Val299=) NC_000013.11:100268765:G:C Identity +NM_000359.3:c.498G>A NP_000350.1:p.Glu166= NC_000014.9:24261704:C:T p.(Glu166=) NC_000014.9:24261704:C:T p.(Glu166=) NC_000014.9:24261704:C:T Identity +NM_133432.3:c.47442A>G NP_597676.3:p.Val15814= NC_000002.12:178571869:T:C p.(Val15814=) NC_000002.12:178571869:T:C p.(Val15814=) NC_000002.12:178571869:T:C Identity +NM_001256850.1:c.39855T>A NP_001243779.1:p.Ala13285= NC_000002.12:178624501:A:T p.(Ala13285=) NC_000002.12:178624501:A:T p.(Ala13285=) NC_000002.12:178624501:A:T Identity +NM_024577.4:c.1305C>T NP_078853.2:p.Thr435= NC_000005.10:149028426:G:A p.(Thr435=) NC_000005.10:149028426:G:A p.(Thr435=) NC_000005.10:149028426:G:A Identity +NM_000487.6:c.27C>T NP_000478.3:p.Leu9= NC_000022.11:50627752:G:A p.(Leu9=) NC_000022.11:50627752:G:A p.(Leu9=) NC_000022.11:50627752:G:A Identity +NM_001349253.2:c.1644A>G NP_001336182.1:p.Glu548= NC_000003.12:38904062:T:C p.(Glu548=) NC_000003.12:38904062:T:C p.(Glu548=) NC_000003.12:38904062:T:C Identity +NM_001375808.2:c.2119C>T NP_001362737.1:p.Leu707= NC_000018.10:2923829:G:A p.(Leu707=) NC_000018.10:2923829:G:A p.(Leu707=) NC_000018.10:2923829:G:A Identity +NM_005045.4:c.6855T>C NP_005036.2:p.Arg2285= NC_000007.14:103540271:A:G p.(Arg2285=) NC_000007.14:103540271:A:G p.(Arg2285=) NC_000007.14:103540271:A:G Identity +NM_001558.4:c.423G>A NP_001549.2:p.Gly141= NC_000011.10:117993295:G:A p.(Gly141=) NC_000011.10:117993295:G:A p.(Gly141=) NC_000011.10:117993295:G:A Identity +NM_001130823.3:c.27G>A NP_001124295.1:p.Arg9= NC_000019.10:10194872:C:T p.(Arg9=) NC_000019.10:10194872:C:T p.(Arg9=) NC_000019.10:10194872:C:T Identity +NM_000352.6:c.927C>T NP_000343.2:p.Ala309= NC_000011.10:17460571:G:A p.(Ala309=) NC_000011.10:17460571:G:A p.(Ala309=) NC_000011.10:17460571:G:A Identity +NM_000222.3:c.2004C>T NP_000213.1:p.Val668= NC_000004.12:54729347:C:T p.(Val668=) NC_000004.12:54729347:C:T p.(Val668=) NC_000004.12:54729347:C:T Identity +NM_003880.4:c.594T>C NP_003871.1:p.Tyr198= NC_000006.12:112068208:T:C p.(Tyr198=) NC_000006.12:112068208:T:C p.(Tyr198=) NC_000006.12:112068208:T:C Identity +NM_000182.5:c.612T>A NP_000173.2:p.Gly204= NC_000002.12:26230255:A:T p.(Gly204=) NC_000002.12:26230255:A:T p.(Gly204=) NC_000002.12:26230255:A:T Identity +NM_001364440.2:c.2094A>G NP_001351369.1:p.Ser698= NC_000005.10:7900054:A:G p.(Ser698=) NC_000005.10:7900054:A:G p.(Ser698=) NC_000005.10:7900054:A:G Identity +NM_004260.4:c.2583C>G NP_004251.4:p.Pro861= NC_000008.11:144513018:G:C p.(Pro861=) NC_000008.11:144513018:G:C p.(Pro861=) NC_000008.11:144513018:G:C Identity +NM_001127487.2:c.6321G>A NP_001120959.1:p.Arg2107= NC_000007.14:128853772:G:A p.(Arg2107=) NC_000007.14:128853772:G:A p.(Arg2107=) NC_000007.14:128853772:G:A Identity +NM_000383.4:c.1179C>T NP_000374.1:p.Val393= NC_000021.9:44293075:C:T p.(Val393=) NC_000021.9:44293075:C:T p.(Val393=) NC_000021.9:44293075:C:T Identity +NM_001382361.1:c.1584C>T NP_001369290.1:p.Ala528= NC_000011.10:64221053:C:T p.(Ala528=) NC_000011.10:64221053:C:T p.(Ala528=) NC_000011.10:64221053:C:T Identity +NM_001193640.2:c.2238C>T NP_001180569.1:p.Asn746= NC_000001.11:197427898:C:T p.(Asn746=) NC_000001.11:197427898:C:T p.(Asn746=) NC_000001.11:197427898:C:T Identity +NM_025216.3:c.720G>A NP_079492.2:p.Ala240= NC_000002.12:218890326:G:A p.(Ala240=) NC_000002.12:218890326:G:A p.(Ala240=) NC_000002.12:218890326:G:A Identity +NM_001146158.2:c.1848C>G NP_001139630.1:p.Leu616= NC_000002.12:74461622:G:C p.(Leu616=) NC_000002.12:74461622:G:C p.(Leu616=) NC_000002.12:74461622:G:C Identity +NM_001114094.2:c.138T>C NP_001107566.1:p.Ser46= NC_000010.11:96242759:A:G p.(Ser46=) NC_000010.11:96242759:A:G p.(Ser46=) NC_000010.11:96242759:A:G Identity +NM_001160302.2:c.150G>A NP_001153774.1:p.Lys50= NC_000021.9:32702021:C:T p.(Lys50=) NC_000021.9:32702021:C:T p.(Lys50=) NC_000021.9:32702021:C:T Identity +NM_001330588.2:c.858T>G NP_001317517.1:p.Ala286= NC_000013.11:102627084:T:G p.(Ala286=) NC_000013.11:102627084:T:G p.(Ala286=) NC_000013.11:102627084:T:G Identity +NM_000048.4:c.1386G>A NP_000039.2:p.Gln462= NC_000007.14:66092902:G:A p.(Gln462=) NC_000007.14:66092902:G:A p.(Gln462=) NC_000007.14:66092902:G:A Identity +NM_001142929.2:c.1758T>C NP_001136401.2:p.Ser586= NC_000010.11:49664910:T:C p.(Ser586=) NC_000010.11:49664910:T:C p.(Ser586=) NC_000010.11:49664910:T:C Identity +NM_000263.4:c.141C>T NP_000254.2:p.Asp47= NC_000017.11:42536412:C:T p.(Asp47=) NC_000017.11:42536412:C:T p.(Asp47=) NC_000017.11:42536412:C:T Identity +NM_000744.7:c.282C>T NP_000735.1:p.His94= NC_000020.11:63356075:G:A p.(His94=) NC_000020.11:63356075:G:A p.(His94=) NC_000020.11:63356075:G:A Identity +NM_000432.4:c.264G>A NP_000423.2:p.Glu88= NC_000012.12:110914195:C:T p.(Glu88=) NC_000012.12:110914195:C:T p.(Glu88=) NC_000012.12:110914195:C:T Identity +NM_004260.4:c.186C>T NP_004251.4:p.Ser62= NC_000008.11:144517440:G:A p.(Ser62=) NC_000008.11:144517440:G:A p.(Ser62=) NC_000008.11:144517440:G:A Identity +NM_001257281.2:c.1503T>C NP_001244210.1:p.Ile501= NC_000002.12:232263283:T:C p.(Ile501=) NC_000002.12:232263283:T:C p.(Ile501=) NC_000002.12:232263283:T:C Identity +NM_001363520.3:c.27A>G NP_001350449.1:p.Glu9= NC_000004.12:127965106:T:C p.(Glu9=) NC_000004.12:127965106:T:C p.(Glu9=) NC_000004.12:127965106:T:C Identity +NM_001256789.3:c.1783C>T NP_001243718.1:p.Leu595= NC_000023.11:49224854:G:A p.(Leu595=) NC_000023.11:49224854:G:A p.(Leu595=) NC_000023.11:49224854:G:A Identity +NM_001302959.2:c.756A>G NP_001289888.1:p.Ala252= NC_000011.10:67490932:A:G p.(Ala252=) NC_000011.10:67490932:A:G p.(Ala252=) NC_000011.10:67490932:A:G Identity +NM_000445.5:c.9012G>A NP_000436.2:p.Leu3004= NC_000008.11:143920889:C:T p.(Leu3004=) NC_000008.11:143920889:C:T p.(Leu3004=) NC_000008.11:143920889:C:T Identity +NM_024685.4:c.945A>G NP_078961.3:p.Gln315= NC_000012.12:76347039:T:C p.(Gln315=) NC_000012.12:76347039:T:C p.(Gln315=) NC_000012.12:76347039:T:C Identity +NM_001346897.2:c.801G>T NP_001333826.1:p.Gly267= NC_000007.14:55155875:G:T p.(Gly267=) NC_000007.14:55155875:G:T p.(Gly267=) NC_000007.14:55155875:G:T Identity +NM_000431.4:c.19C>T NP_000422.1:p.Leu7= NC_000012.12:109574840:C:T p.(Leu7=) NC_000012.12:109574840:C:T p.(Leu7=) NC_000012.12:109574840:C:T Identity +NM_001160227.2:c.45T>C NP_001153699.1:p.Gly15= NC_000015.10:44663602:A:G p.(Gly15=) NC_000015.10:44663602:A:G p.(Gly15=) NC_000015.10:44663602:A:G Identity +NM_001081640.2:c.2730C>T NP_001075109.1:p.Phe910= NC_000008.11:47913951:G:A p.(Phe910=) NC_000008.11:47913951:G:A p.(Phe910=) NC_000008.11:47913951:G:A Identity +NM_001316767.2:c.195T>C NP_001303696.1:p.Ala65= NC_000001.11:146018484:A:G p.(Ala65=) NC_000001.11:146018484:A:G p.(Ala65=) NC_000001.11:146018484:A:G Identity +NM_000059.4:c.10104C>T NP_000050.3:p.Ser3368= NC_000013.11:32398616:C:T p.(Ser3368=) NC_000013.11:32398616:C:T p.(Ser3368=) NC_000013.11:32398616:C:T Identity +NM_001317195.3:c.1641C>T NP_001304124.1:p.Val547= NC_000016.10:68687581:C:T p.(Val547=) NC_000016.10:68687581:C:T p.(Val547=) NC_000016.10:68687581:C:T Identity +NM_001005242.3:c.1314G>T NP_001005242.2:p.Gly438= NC_000012.12:32850829:C:A p.(Gly438=) NC_000012.12:32850829:C:A p.(Gly438=) NC_000012.12:32850829:C:A Identity +NM_000532.5:c.861C>T NP_000523.2:p.Pro287= NC_000003.12:136298048:C:T p.(Pro287=) NC_000003.12:136298048:C:T p.(Pro287=) NC_000003.12:136298048:C:T Identity +NM_000091.5:c.3816T>C NP_000082.2:p.Ser1272= NC_000002.12:227298745:T:C p.(Ser1272=) NC_000002.12:227298745:T:C p.(Ser1272=) NC_000002.12:227298745:T:C Identity +NM_000263.4:c.27G>T NP_000254.2:p.Ala9= NC_000017.11:42536298:G:T p.(Ala9=) NC_000017.11:42536298:G:T p.(Ala9=) NC_000017.11:42536298:G:T Identity +NM_001346083.2:c.576G>A NP_001333012.1:p.Leu192= NC_000001.11:205059171:G:A p.(Leu192=) NC_000001.11:205059171:G:A p.(Leu192=) NC_000001.11:205059171:G:A Identity +NM_181882.3:c.1119T>C NP_870998.2:p.Ala373= NC_000019.10:40397232:A:G p.(Ala373=) NC_000019.10:40397232:A:G p.(Ala373=) NC_000019.10:40397232:A:G Identity +NM_000152.5:c.471C>T NP_000143.2:p.Pro157= NC_000017.11:80105056:C:T p.(Pro157=) NC_000017.11:80105056:C:T p.(Pro157=) NC_000017.11:80105056:C:T Identity +NM_000051.4:c.67C>A NP_000042.3:p.Arg23= NC_000011.10:108227690:C:A p.(Arg23=) NC_000011.10:108227690:C:A p.(Arg23=) NC_000011.10:108227690:C:A Identity +NM_001321851.1:c.2913T>C NP_001308780.1:p.Ile971= NC_000014.9:92005059:A:G p.(Ile971=) NC_000014.9:92005059:A:G p.(Ile971=) NC_000014.9:92005059:A:G Identity +NM_005677.4:c.405C>A NP_005668.2:p.Gly135= NC_000003.12:15477185:G:T p.(Gly135=) NC_000003.12:15477185:G:T p.(Gly135=) NC_000003.12:15477185:G:T Identity +NM_000397.4:c.51T>C NP_000388.2:p.Val17= NC_000023.11:37782092:T:C p.(Val17=) NC_000023.11:37782092:T:C p.(Val17=) NC_000023.11:37782092:T:C Identity +NM_000251.3:c.1572T>A NP_000242.1:p.Arg524= NC_000002.12:47466718:T:A p.(Arg524=) NC_000002.12:47466718:T:A p.(Arg524=) NC_000002.12:47466718:T:A Identity +NM_001378454.1:c.9771C>T NP_001365383.1:p.Arg3257= NC_000002.12:73520005:C:T p.(Arg3257=) NC_000002.12:73520005:C:T p.(Arg3257=) NC_000002.12:73520005:C:T Identity +NM_001122607.2:c.27G>A NP_001116079.1:p.Thr9= NC_000021.9:34887085:C:T p.(Thr9=) NC_000021.9:34887085:C:T p.(Thr9=) NC_000021.9:34887085:C:T Identity +NM_001160302.2:c.2202A>C NP_001153774.1:p.Arg734= NC_000021.9:32665014:T:G p.(Arg734=) NC_000021.9:32665014:T:G p.(Arg734=) NC_000021.9:32665014:T:G Identity +NM_000053.4:c.276C>T NP_000044.2:p.Ser92= NC_000013.11:51974943:G:A p.(Ser92=) NC_000013.11:51974943:G:A p.(Ser92=) NC_000013.11:51974943:G:A Identity +NM_001172509.2:c.2073C>T NP_001165980.1:p.Asp691= NC_000002.12:199272339:G:A p.(Asp691=) NC_000002.12:199272339:G:A p.(Asp691=) NC_000002.12:199272339:G:A Identity +NM_001350234.2:c.1503G>C NP_001337163.1:p.Val501= NC_000001.11:9720642:G:C p.(Val501=) NC_000001.11:9720642:G:C p.(Val501=) NC_000001.11:9720642:G:C Identity +NM_001099403.2:c.222A>G NP_001092873.1:p.Val74= NC_000004.12:80201291:A:G p.(Val74=) NC_000004.12:80201291:A:G p.(Val74=) NC_000004.12:80201291:A:G Identity +NM_024589.3:c.765C>T NP_078865.1:p.Asn255= NC_000016.10:4797770:G:A p.(Asn255=) NC_000016.10:4797770:G:A p.(Asn255=) NC_000016.10:4797770:G:A Identity +NM_004104.5:c.1152T>C NP_004095.4:p.Arg384= NC_000017.11:82091561:A:G p.(Arg384=) NC_000017.11:82091561:A:G p.(Arg384=) NC_000017.11:82091561:A:G Identity +NM_001256850.1:c.69639C>T NP_001243779.1:p.Thr23213= NC_000002.12:178571569:G:A p.(Thr23213=) NC_000002.12:178571569:G:A p.(Thr23213=) NC_000002.12:178571569:G:A Identity +NM_001195573.1:c.1863T>C NP_001182502.1:p.Gly621= NC_000014.9:95115710:A:G p.(Gly621=) NC_000014.9:95115710:A:G p.(Gly621=) NC_000014.9:95115710:A:G Identity +NM_001036.6:c.1524G>A NP_001027.3:p.Glu508= NC_000015.10:33581593:G:A p.(Glu508=) NC_000015.10:33581593:G:A p.(Glu508=) NC_000015.10:33581593:G:A Identity +NM_000050.4:c.84C>A NP_000041.2:p.Gly28= NC_000009.12:130452311:C:A p.(Gly28=) NC_000009.12:130452311:C:A p.(Gly28=) NC_000009.12:130452311:C:A Identity +NM_001142571.2:c.564G>A NP_001136043.1:p.Gln188= NC_000017.11:35106457:C:T p.(Gln188=) NC_000017.11:35106457:C:T p.(Gln188=) NC_000017.11:35106457:C:T Identity +NM_000027.4:c.705A>G NP_000018.2:p.Val235= NC_000004.12:177434482:T:C p.(Val235=) NC_000004.12:177434482:T:C p.(Val235=) NC_000004.12:177434482:T:C Identity +NM_000059.4:c.6309A>C NP_000050.3:p.Ser2103= NC_000013.11:32340663:A:C p.(Ser2103=) NC_000013.11:32340663:A:C p.(Ser2103=) NC_000013.11:32340663:A:C Identity +NM_001127487.2:c.2724G>C NP_001120959.1:p.Gly908= NC_000007.14:128843489:G:C p.(Gly908=) NC_000007.14:128843489:G:C p.(Gly908=) NC_000007.14:128843489:G:C Identity +NM_000485.3:c.385C>T NP_000476.1:p.Leu129= NC_000016.10:88810084:G:A p.(Leu129=) NC_000016.10:88810084:G:A p.(Leu129=) NC_000016.10:88810084:G:A Identity +NM_000920.4:c.2379G>A NP_000911.2:p.Val793= NC_000011.10:66850767:C:T p.(Val793=) NC_000011.10:66850767:C:T p.(Val793=) NC_000011.10:66850767:C:T Identity +NM_001079802.2:c.672T>C NP_001073270.1:p.Val224= NC_000009.12:105607842:T:C p.(Val224=) NC_000009.12:105607842:T:C p.(Val224=) NC_000009.12:105607842:T:C Identity +NM_001042663.3:c.409C>T NP_001036128.2:p.Leu137= NC_000001.11:6475050:G:A p.(Leu137=) NC_000001.11:6475050:G:A p.(Leu137=) NC_000001.11:6475050:G:A Identity +NM_001195573.1:c.87A>G NP_001182502.1:p.Gly29= NC_000014.9:95133371:T:C p.(Gly29=) NC_000014.9:95133371:T:C p.(Gly29=) NC_000014.9:95133371:T:C Identity +NM_006282.5:c.1425T>C NP_006273.1:p.Asp475= NC_000020.11:45075136:T:C p.(Asp475=) NC_000020.11:45075136:T:C p.(Asp475=) NC_000020.11:45075136:T:C Identity +NM_000215.4:c.2562G>C NP_000206.2:p.Val854= NC_000019.10:17832636:C:G p.(Val854=) NC_000019.10:17832636:C:G p.(Val854=) NC_000019.10:17832636:C:G Identity +NM_001256850.1:c.10305T>C NP_001243779.1:p.Ala3435= NC_000002.12:178753178:A:G p.(Ala3435=) NC_000002.12:178753178:A:G p.(Ala3435=) NC_000002.12:178753178:A:G Identity +NM_004629.2:c.1662G>A NP_004620.1:p.Leu554= NC_000009.12:35074468:C:T p.(Leu554=) NC_000009.12:35074468:C:T p.(Leu554=) NC_000009.12:35074468:C:T Identity +NM_001105206.3:c.672C>T NP_001098676.2:p.Cys224= NC_000006.12:112191681:G:A p.(Cys224=) NC_000006.12:112191681:G:A p.(Cys224=) NC_000006.12:112191681:G:A Identity +NM_000445.5:c.1953C>A NP_000436.2:p.Ala651= NC_000008.11:143932504:G:T p.(Ala651=) NC_000008.11:143932504:G:T p.(Ala651=) NC_000008.11:143932504:G:T Identity +NM_020184.4:c.1059C>T NP_064569.3:p.Asp353= NC_000002.12:96762057:C:T p.(Asp353=) NC_000002.12:96762057:C:T p.(Asp353=) NC_000002.12:96762057:C:T Identity +NM_001164716.1:c.954G>A NP_001158188.1:p.Glu318= NC_000011.10:64753899:C:T p.(Glu318=) NC_000011.10:64753899:C:T p.(Glu318=) NC_000011.10:64753899:C:T Identity +NM_001258040.3:c.1203G>A NP_001244969.1:p.Leu401= NC_000005.10:140674813:C:T p.(Leu401=) NC_000005.10:140674813:C:T p.(Leu401=) NC_000005.10:140674813:C:T Identity +NM_001142800.2:c.1020A>T NP_001136272.1:p.Pro340= NC_000006.12:65405209:T:A p.(Pro340=) NC_000006.12:65405209:T:A p.(Pro340=) NC_000006.12:65405209:T:A Identity +NM_014003.4:c.1956C>T NP_054722.2:p.Asp652= NC_000016.10:72104076:C:T p.(Asp652=) NC_000016.10:72104076:C:T p.(Asp652=) NC_000016.10:72104076:C:T Identity +NM_000251.3:c.1005C>A NP_000242.1:p.Thr335= NC_000002.12:47416357:C:A p.(Thr335=) NC_000002.12:47416357:C:A p.(Thr335=) NC_000002.12:47416357:C:A Identity +NM_001378454.1:c.1776T>C NP_001365383.1:p.Ser592= NC_000002.12:73448302:T:C p.(Ser592=) NC_000002.12:73448302:T:C p.(Ser592=) NC_000002.12:73448302:T:C Identity +NM_172364.5:c.3102G>A NP_758952.4:p.Gly1034= NC_000012.12:1797428:C:T p.(Gly1034=) NC_000012.12:1797428:C:T p.(Gly1034=) NC_000012.12:1797428:C:T Identity +NM_001018037.2:c.8403A>G NP_001018047.1:p.Leu2801= NC_000009.12:77368102:A:G p.(Leu2801=) NC_000009.12:77368102:A:G p.(Leu2801=) NC_000009.12:77368102:A:G Identity +NM_001040108.2:c.816A>G NP_001035197.1:p.Leu272= NC_000014.9:75048839:T:C p.(Leu272=) NC_000014.9:75048839:T:C p.(Leu272=) NC_000014.9:75048839:T:C Identity +NM_004104.5:c.6708C>T NP_004095.4:p.Ser2236= NC_000017.11:82080809:G:A p.(Ser2236=) NC_000017.11:82080809:G:A p.(Ser2236=) NC_000017.11:82080809:G:A Identity +NM_001347827.2:c.1746T>C NP_001334756.1:p.Tyr582= NC_000004.12:54274932:T:C p.(Tyr582=) NC_000004.12:54274932:T:C p.(Tyr582=) NC_000004.12:54274932:T:C Identity +NM_000383.4:c.354C>A NP_000374.1:p.Val118= NC_000021.9:44287023:C:A p.(Val118=) NC_000021.9:44287023:C:A p.(Val118=) NC_000021.9:44287023:C:A Identity +NM_005142.3:c.418T>C NP_005133.2:p.Leu140= NC_000011.10:59842535:A:G p.(Leu140=) NC_000011.10:59842535:A:G p.(Leu140=) NC_000011.10:59842535:A:G Identity +NM_001166110.2:c.429C>T NP_001159582.1:p.Leu143= NC_000004.12:168878319:C:T p.(Leu143=) NC_000004.12:168878319:C:T p.(Leu143=) NC_000004.12:168878319:C:T Identity +NM_001278055.2:c.8805T>C NP_001264984.1:p.Cys2935= NC_000013.11:23334629:A:G p.(Cys2935=) NC_000013.11:23334629:A:G p.(Cys2935=) NC_000013.11:23334629:A:G Identity +NM_001283009.2:c.2115C>T NP_001269938.1:p.Tyr705= NC_000020.11:63689838:C:T p.(Tyr705=) NC_000020.11:63689838:C:T p.(Tyr705=) NC_000020.11:63689838:C:T Identity +NM_001278431.2:c.498T>C NP_001265360.1:p.Phe166= NC_000011.10:119339564:A:G p.(Phe166=) NC_000011.10:119339564:A:G p.(Phe166=) NC_000011.10:119339564:A:G Identity +NM_001203263.2:c.1570C>T NP_001190192.2:p.Leu524= NC_000003.12:9933038:C:T p.(Leu524=) NC_000003.12:9933038:C:T p.(Leu524=) NC_000003.12:9933038:C:T Identity +NM_001105206.3:c.1224G>A NP_001098676.2:p.Glu408= NC_000006.12:112175445:C:T p.(Glu408=) NC_000006.12:112175445:C:T p.(Glu408=) NC_000006.12:112175445:C:T Identity +NM_000264.5:c.2118C>T NP_000255.2:p.Ser706= NC_000009.12:95468882:G:A p.(Ser706=) NC_000009.12:95468882:G:A p.(Ser706=) NC_000009.12:95468882:G:A Identity +NM_001376472.1:c.537T>G NP_001363401.1:p.Ser179= NC_000022.11:50076900:A:C p.(Ser179=) NC_000022.11:50076900:A:C p.(Ser179=) NC_000022.11:50076900:A:C Identity +NM_000222.3:c.2584C>T NP_000213.1:p.Leu862= NC_000004.12:54736596:C:T p.(Leu862=) NC_000004.12:54736596:C:T p.(Leu862=) NC_000004.12:54736596:C:T Identity +NM_001195573.1:c.3081G>A NP_001182502.1:p.Leu1027= NC_000014.9:95105689:C:T p.(Leu1027=) NC_000014.9:95105689:C:T p.(Leu1027=) NC_000014.9:95105689:C:T Identity +NM_000152.5:c.1458C>T NP_000143.2:p.Ala486= NC_000017.11:80110746:C:T p.(Ala486=) NC_000017.11:80110746:C:T p.(Ala486=) NC_000017.11:80110746:C:T Identity +NM_004204.5:c.1716C>T NP_004195.2:p.Pro572= NC_000016.10:583004:C:T p.(Pro572=) NC_000016.10:583004:C:T p.(Pro572=) NC_000016.10:583004:C:T Identity +NM_000263.4:c.147C>T NP_000254.2:p.Ser49= NC_000017.11:42536418:C:T p.(Ser49=) NC_000017.11:42536418:C:T p.(Ser49=) NC_000017.11:42536418:C:T Identity +NM_000222.3:c.345C>T NP_000213.1:p.Ala115= NC_000004.12:54698290:C:T p.(Ala115=) NC_000004.12:54698290:C:T p.(Ala115=) NC_000004.12:54698290:C:T Identity +NM_001347827.2:c.1221T>C NP_001334756.1:p.Phe407= NC_000004.12:54270731:T:C p.(Phe407=) NC_000004.12:54270731:T:C p.(Phe407=) NC_000004.12:54270731:T:C Identity +NM_000287.4:c.2325C>T NP_000278.3:p.Asn775= NC_000006.12:42966080:G:A p.(Asn775=) NC_000006.12:42966080:G:A p.(Asn775=) NC_000006.12:42966080:G:A Identity +NM_000198.4:c.414G>A NP_000189.1:p.Gln138= NC_000001.11:119421914:G:A p.(Gln138=) NC_000001.11:119421914:G:A p.(Gln138=) NC_000001.11:119421914:G:A Identity +NM_001384474.1:c.318T>C NP_001371403.1:p.Tyr106= NC_000018.10:46641963:A:G p.(Tyr106=) NC_000018.10:46641963:A:G p.(Tyr106=) NC_000018.10:46641963:A:G Identity +NM_001754.5:c.84T>C NP_001745.2:p.Ser28= NC_000021.9:34892937:A:G p.(Ser28=) NC_000021.9:34892937:A:G p.(Ser28=) NC_000021.9:34892937:A:G Identity +NM_000030.3:c.660C>T NP_000021.1:p.Ile220= NC_000002.12:240874041:C:T p.(Ile220=) NC_000002.12:240874041:C:T p.(Ile220=) NC_000002.12:240874041:C:T Identity +NM_001281737.2:c.201C>T NP_001268666.1:p.Leu67= NC_000004.12:158682360:C:T p.(Leu67=) NC_000004.12:158682360:C:T p.(Leu67=) NC_000004.12:158682360:C:T Identity +NM_025219.3:c.516C>T NP_079495.1:p.Val172= NC_000020.11:63931486:C:T p.(Val172=) NC_000020.11:63931486:C:T p.(Val172=) NC_000020.11:63931486:C:T Identity +NM_001018037.2:c.2349A>G NP_001018047.1:p.Gln783= NC_000009.12:77260145:A:G p.(Gln783=) NC_000009.12:77260145:A:G p.(Gln783=) NC_000009.12:77260145:A:G Identity +NM_014003.4:c.966C>T NP_054722.2:p.Ala322= NC_000016.10:72099736:C:T p.(Ala322=) NC_000016.10:72099736:C:T p.(Ala322=) NC_000016.10:72099736:C:T Identity +NM_001127487.2:c.6792G>A NP_001120959.1:p.Val2264= NC_000007.14:128854575:G:A p.(Val2264=) NC_000007.14:128854575:G:A p.(Val2264=) NC_000007.14:128854575:G:A Identity +NM_024589.3:c.348C>A NP_078865.1:p.Ala116= NC_000016.10:4799769:G:T p.(Ala116=) NC_000016.10:4799769:G:T p.(Ala116=) NC_000016.10:4799769:G:T Identity +NM_001145527.2:c.1413G>A NP_001138999.1:p.Thr471= NC_000009.12:137757922:G:A p.(Thr471=) NC_000009.12:137757922:G:A p.(Thr471=) NC_000009.12:137757922:G:A Identity +NM_000268.4:c.1743C>T NP_000259.1:p.Thr581= NC_000022.11:29694756:C:T p.(Thr581=) NC_000022.11:29694756:C:T p.(Thr581=) NC_000022.11:29694756:C:T Identity +NM_000050.4:c.984C>T NP_000041.2:p.Ser328= NC_000009.12:130494879:C:T p.(Ser328=) NC_000009.12:130494879:C:T p.(Ser328=) NC_000009.12:130494879:C:T Identity +NM_001127396.3:c.1710G>A NP_001120868.1:p.Pro570= NC_000019.10:7647746:G:A p.(Pro570=) NC_000019.10:7647746:G:A p.(Pro570=) NC_000019.10:7647746:G:A Identity +NM_001282225.2:c.970C>T NP_001269154.1:p.Leu324= NC_000022.11:17189943:G:A p.(Leu324=) NC_000022.11:17189943:G:A p.(Leu324=) NC_000022.11:17189943:G:A Identity +NM_001126105.3:c.399C>A NP_001119577.1:p.Ala133= NC_000014.9:22812999:G:T p.(Ala133=) NC_000014.9:22812999:G:T p.(Ala133=) NC_000014.9:22812999:G:T Identity +NM_001352773.2:c.765G>A NP_001339702.1:p.Leu255= NC_000017.11:41767522:C:T p.(Leu255=) NC_000017.11:41767522:C:T p.(Leu255=) NC_000017.11:41767522:C:T Identity +NM_001127198.5:c.1257C>T NP_001120670.1:p.His419= NC_000017.11:78121681:G:A p.(His419=) NC_000017.11:78121681:G:A p.(His419=) NC_000017.11:78121681:G:A Identity +NM_001166136.2:c.249A>G NP_001159608.1:p.Glu83= NC_000004.12:5691294:T:C p.(Glu83=) NC_000004.12:5691294:T:C p.(Glu83=) NC_000004.12:5691294:T:C Identity +NM_001692.4:c.45T>C NP_001683.2:p.Ser15= NC_000002.12:70935998:T:C p.(Ser15=) NC_000002.12:70935998:T:C p.(Ser15=) NC_000002.12:70935998:T:C Identity +NM_000109.4:c.5121C>T NP_000100.3:p.Asp1707= NC_000023.11:32364590:G:A p.(Asp1707=) NC_000023.11:32364590:G:A p.(Asp1707=) NC_000023.11:32364590:G:A Identity +NM_004260.4:c.3279T>C NP_004251.4:p.Asp1093= NC_000008.11:144512024:A:G p.(Asp1093=) NC_000008.11:144512024:A:G p.(Asp1093=) NC_000008.11:144512024:A:G Identity +NM_001999.4:c.115C>A NP_001990.2:p.Arg39= NC_000005.10:128537488:G:T p.(Arg39=) NC_000005.10:128537488:G:T p.(Arg39=) NC_000005.10:128537488:G:T Identity +NM_003742.4:c.3016T>C NP_003733.2:p.Leu1006= NC_000002.12:168935223:A:G p.(Leu1006=) NC_000002.12:168935223:A:G p.(Leu1006=) NC_000002.12:168935223:A:G Identity +LRG_1323t1:c.2550C>T LRG_1323p1:p.Pro850= NC_000002.12:47073895:C:T ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_001081640.2:c.3834G>A NP_001075109.1:p.Ala1278= NC_000008.11:47893151:C:T p.(Ala1278=) NC_000008.11:47893151:C:T p.(Ala1278=) NC_000008.11:47893151:C:T Identity +NM_001271282.3:c.5517G>A NP_001258211.1:p.Arg1839= NC_000014.9:95091212:C:T p.(Arg1839=) NC_000014.9:95091212:C:T p.(Arg1839=) NC_000014.9:95091212:C:T Identity +LRG_1212t1:c.2463C>T LRG_1212p1:p.Leu821= NC_000001.11:154590216:G:A ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_001317195.3:c.507G>A NP_001304124.1:p.Leu169= NC_000016.10:68678616:G:A p.(Leu169=) NC_000016.10:68678616:G:A p.(Leu169=) NC_000016.10:68678616:G:A Identity +NM_000404.4:c.1950C>T NP_000395.3:p.Tyr650= NC_000003.12:32997128:G:A p.(Tyr650=) NC_000003.12:32997128:G:A p.(Tyr650=) NC_000003.12:32997128:G:A Identity +NM_006445.4:c.249T>C NP_006436.3:p.His83= NC_000017.11:1683552:A:G p.(His83=) NC_000017.11:1683552:A:G p.(His83=) NC_000017.11:1683552:A:G Identity +NM_004813.4:c.846C>T NP_004804.2:p.Leu282= NC_000011.10:45913859:G:A p.(Leu282=) NC_000011.10:45913859:G:A p.(Leu282=) NC_000011.10:45913859:G:A Identity +NM_000528.4:c.1125C>T NP_000519.2:p.Asp375= NC_000019.10:12658328:G:A p.(Asp375=) NC_000019.10:12658328:G:A p.(Asp375=) NC_000019.10:12658328:G:A Identity +NM_000455.5:c.1185A>T NP_000446.1:p.Thr395= NC_000019.10:1226529:A:T p.(Thr395=) NC_000019.10:1226529:A:T p.(Thr395=) NC_000019.10:1226529:A:T Identity +NM_001142763.2:c.1353T>C NP_001136235.1:p.Asn451= NC_000010.11:54185235:A:G p.(Asn451=) NC_000010.11:54185235:A:G p.(Asn451=) NC_000010.11:54185235:A:G Identity +NM_000022.4:c.111C>T NP_000013.2:p.Ala37= NC_000020.11:44629153:G:A p.(Ala37=) NC_000020.11:44629153:G:A p.(Ala37=) NC_000020.11:44629153:G:A Identity +NM_000263.4:c.732A>C NP_000254.2:p.Ala244= NC_000017.11:42538722:A:C p.(Ala244=) NC_000017.11:42538722:A:C p.(Ala244=) NC_000017.11:42538722:A:C Identity +NM_001128227.3:c.147C>T NP_001121699.1:p.Asn49= NC_000009.12:36249301:G:A p.(Asn49=) NC_000009.12:36249301:G:A p.(Asn49=) NC_000009.12:36249301:G:A Identity +NM_000182.5:c.1242G>A NP_000173.2:p.Lys414= NC_000002.12:26201298:C:T p.(Lys414=) NC_000002.12:26201298:C:T p.(Lys414=) NC_000002.12:26201298:C:T Identity +NM_001035.3:c.13806A>G NP_001026.2:p.Arg4602= NC_000001.11:237793889:A:G p.(Arg4602=) NC_000001.11:237793889:A:G p.(Arg4602=) NC_000001.11:237793889:A:G Identity +NM_000520.6:c.888T>C NP_000511.2:p.Asn296= NC_000015.10:72349176:A:G p.(Asn296=) NC_000015.10:72349176:A:G p.(Asn296=) NC_000015.10:72349176:A:G Identity +NM_001363729.2:c.1257T>C NP_001350658.1:p.Tyr419= NC_000020.11:36911230:A:G p.(Tyr419=) NC_000020.11:36911230:A:G p.(Tyr419=) NC_000020.11:36911230:A:G Identity +NM_001317799.2:c.2007T>C NP_001304728.1:p.Pro669= NC_000004.12:123028325:T:C p.(Pro669=) NC_000004.12:123028325:T:C p.(Pro669=) NC_000004.12:123028325:T:C Identity +NM_001364440.2:c.1095T>C NP_001351369.1:p.Ser365= NC_000005.10:7886651:T:C p.(Ser365=) NC_000005.10:7886651:T:C p.(Ser365=) NC_000005.10:7886651:T:C Identity +NM_003079.5:c.1146C>T NP_003070.3:p.Thr382= NC_000017.11:40628874:G:A p.(Thr382=) NC_000017.11:40628874:G:A p.(Thr382=) NC_000017.11:40628874:G:A Identity +NM_001304418.3:c.111G>A NP_001291347.1:p.Ser37= NC_000003.12:69122275:C:T p.(Ser37=) NC_000003.12:69122275:C:T p.(Ser37=) NC_000003.12:69122275:C:T Identity +NM_001290048.2:c.567A>G NP_001276977.1:p.Thr189= NC_000011.10:63644258:T:C p.(Thr189=) NC_000011.10:63644258:T:C p.(Thr189=) NC_000011.10:63644258:T:C Identity +NM_001256063.2:c.858T>A NP_001242992.1:p.Ala286= NC_000012.12:40933750:T:A p.(Ala286=) NC_000012.12:40933750:T:A p.(Ala286=) NC_000012.12:40933750:T:A Identity +NM_001144769.5:c.10725G>A NP_001138241.1:p.Glu3575= NC_000006.12:56532369:C:T p.(Glu3575=) NC_000006.12:56532369:C:T p.(Glu3575=) NC_000006.12:56532369:C:T Identity +NM_001130455.2:c.600G>A NP_001123927.1:p.Gly200= NC_000002.12:71513854:G:A p.(Gly200=) NC_000002.12:71513854:G:A p.(Gly200=) NC_000002.12:71513854:G:A Identity +NM_000222.3:c.1764G>A NP_000213.1:p.Arg588= NC_000004.12:54727531:G:A p.(Arg588=) NC_000004.12:54727531:G:A p.(Arg588=) NC_000004.12:54727531:G:A Identity +NM_004204.5:c.732C>T NP_004195.2:p.Leu244= NC_000016.10:575880:C:T p.(Leu244=) NC_000016.10:575880:C:T p.(Leu244=) NC_000016.10:575880:C:T Identity +NM_001145715.3:c.1482A>G NP_001139187.1:p.Gln494= NC_000007.14:99173776:T:C p.(Gln494=) NC_000007.14:99173776:T:C p.(Gln494=) NC_000007.14:99173776:T:C Identity +NM_000540.3:c.8952G>A NP_000531.2:p.Gly2984= NC_000019.10:38510516:G:A p.(Gly2984=) NC_000019.10:38510516:G:A p.(Gly2984=) NC_000019.10:38510516:G:A Identity +NM_001366624.2:c.33C>G NP_001353553.1:p.Ala11= NC_000013.11:76992130:C:G p.(Ala11=) NC_000013.11:76992130:C:G p.(Ala11=) NC_000013.11:76992130:C:G Identity +NM_000080.4:c.543C>G NP_000071.1:p.Ala181= NC_000017.11:4901582:G:C p.(Ala181=) NC_000017.11:4901582:G:C p.(Ala181=) NC_000017.11:4901582:G:C Identity +NM_001256789.3:c.1611T>G NP_001243718.1:p.Ser537= NC_000023.11:49225948:A:C p.(Ser537=) NC_000023.11:49225948:A:C p.(Ser537=) NC_000023.11:49225948:A:C Identity +NM_001184.4:c.829T>C NP_001175.2:p.Leu277= NC_000003.12:142562572:A:G p.(Leu277=) NC_000003.12:142562572:A:G p.(Leu277=) NC_000003.12:142562572:A:G Identity +NM_000117.3:c.39C>A NP_000108.1:p.Thr13= NC_000023.11:154379522:C:A p.(Thr13=) NC_000023.11:154379522:C:A p.(Thr13=) NC_000023.11:154379522:C:A Identity +NM_001142763.2:c.3837T>C NP_001136235.1:p.Tyr1279= NC_000010.11:53840480:A:G p.(Tyr1279=) NC_000010.11:53840480:A:G p.(Tyr1279=) NC_000010.11:53840480:A:G Identity +NM_000112.4:c.297C>A NP_000103.2:p.Leu99= NC_000005.10:149977948:C:A p.(Leu99=) NC_000005.10:149977948:C:A p.(Leu99=) NC_000005.10:149977948:C:A Identity +NM_001171971.3:c.984G>A NP_001165442.1:p.Ala328= NC_000010.11:84208193:G:A p.(Ala328=) NC_000010.11:84208193:G:A p.(Ala328=) NC_000010.11:84208193:G:A Identity +NM_022726.4:c.303A>T NP_073563.1:p.Ser101= NC_000006.12:79925017:T:A p.(Ser101=) NC_000006.12:79925017:T:A p.(Ser101=) NC_000006.12:79925017:T:A Identity +NM_000553.6:c.114T>C NP_000544.2:p.Ser38= NC_000008.11:31059169:T:C p.(Ser38=) NC_000008.11:31059169:T:C p.(Ser38=) NC_000008.11:31059169:T:C Identity +NM_001033055.3:c.147G>A NP_001028227.1:p.Gln49= NC_000017.11:6428455:C:T p.(Gln49=) NC_000017.11:6428455:C:T p.(Gln49=) NC_000017.11:6428455:C:T Identity +NM_001201484.2:c.816G>A NP_001188413.1:p.Leu272= NC_000009.12:35093543:C:T p.(Leu272=) NC_000009.12:35093543:C:T p.(Leu272=) NC_000009.12:35093543:C:T Identity +NM_000528.4:c.2619G>C NP_000519.2:p.Pro873= NC_000019.10:12648219:C:G p.(Pro873=) NC_000019.10:12648219:C:G p.(Pro873=) NC_000019.10:12648219:C:G Identity +NM_000426.4:c.879C>T NP_000417.3:p.Ala293= NC_000006.12:129147017:C:T p.(Ala293=) NC_000006.12:129147017:C:T p.(Ala293=) NC_000006.12:129147017:C:T Identity +NM_206933.4:c.7485T>C NP_996816.3:p.Tyr2495= NC_000001.11:215900183:A:G p.(Tyr2495=) NC_000001.11:215900183:A:G p.(Tyr2495=) NC_000001.11:215900183:A:G Identity +NM_001164277.2:c.312T>C NP_001157749.1:p.Ala104= NC_000011.10:119028262:A:G p.(Ala104=) NC_000011.10:119028262:A:G p.(Ala104=) NC_000011.10:119028262:A:G Identity +NM_001285829.2:c.252C>G NP_001272758.1:p.Ala84= NC_000019.10:33301805:G:C p.(Ala84=) NC_000019.10:33301805:G:C p.(Ala84=) NC_000019.10:33301805:G:C Identity +NM_002437.5:c.264G>A NP_002428.1:p.Lys88= NC_000002.12:27312694:C:T p.(Lys88=) NC_000002.12:27312694:C:T p.(Lys88=) NC_000002.12:27312694:C:T Identity +NM_001193640.2:c.1932A>G NP_001180569.1:p.Glu644= NC_000001.11:197427592:A:G p.(Glu644=) NC_000001.11:197427592:A:G p.(Glu644=) NC_000001.11:197427592:A:G Identity +NM_001006658.3:c.3090T>C NP_001006659.1:p.Arg1030= NC_000001.11:207479257:T:C p.(Arg1030=) NC_000001.11:207479257:T:C p.(Arg1030=) NC_000001.11:207479257:T:C Identity +NM_001385125.1:c.402T>C NP_001372054.1:p.Cys134= NC_000007.14:128775095:A:G p.(Cys134=) NC_000007.14:128775095:A:G p.(Cys134=) NC_000007.14:128775095:A:G Identity +NM_001291593.2:c.657A>G NP_001278522.1:p.Pro219= NC_000001.11:5890975:T:C p.(Pro219=) NC_000001.11:5890975:T:C p.(Pro219=) NC_000001.11:5890975:T:C Identity +NM_004387.4:c.657G>C NP_004378.1:p.Ala219= NC_000005.10:173232886:C:G p.(Ala219=) NC_000005.10:173232886:C:G p.(Ala219=) NC_000005.10:173232886:C:G Identity +NM_005045.4:c.4704G>A NP_005036.2:p.Ala1568= NC_000007.14:103566643:C:T p.(Ala1568=) NC_000007.14:103566643:C:T p.(Ala1568=) NC_000007.14:103566643:C:T Identity +NM_020964.3:c.876G>A NP_066015.2:p.Glu292= NC_000018.10:45954525:C:T p.(Glu292=) NC_000018.10:45954525:C:T p.(Glu292=) NC_000018.10:45954525:C:T Identity +NM_000227.6:c.84C>T NP_000218.3:p.Tyr28= NC_000018.10:23873127:C:T p.(Tyr28=) NC_000018.10:23873127:C:T p.(Tyr28=) NC_000018.10:23873127:C:T Identity +NM_001323986.2:c.195T>G NP_001310915.1:p.Val65= NC_000005.10:138783265:T:G p.(Val65=) NC_000005.10:138783265:T:G p.(Val65=) NC_000005.10:138783265:T:G Identity +NM_007123.6:c.1989T>C NP_009054.6:p.Asn663= NC_000001.11:216251080:A:G p.(Asn663=) NC_000001.11:216251080:A:G p.(Asn663=) NC_000001.11:216251080:A:G Identity +NM_006361.6:c.114G>A NP_006352.2:p.Ala38= NC_000017.11:48728479:C:T p.(Ala38=) NC_000017.11:48728479:C:T p.(Ala38=) NC_000017.11:48728479:C:T Identity +NM_000370.3:c.84G>C NP_000361.1:p.Leu28= NC_000008.11:63085937:C:G p.(Leu28=) NC_000008.11:63085937:C:G p.(Leu28=) NC_000008.11:63085937:C:G Identity +NM_000136.3:c.690G>A NP_000127.2:p.Lys230= NC_000009.12:95135498:C:T p.(Lys230=) NC_000009.12:95135498:C:T p.(Lys230=) NC_000009.12:95135498:C:T Identity +NM_001352500.2:c.474C>G NP_001339429.1:p.Gly158= NC_000013.11:49555643:G:C p.(Gly158=) NC_000013.11:49555643:G:C p.(Gly158=) NC_000013.11:49555643:G:C Identity +NM_001378454.1:c.9C>T NP_001365383.1:p.Pro3= NC_000002.12:73385876:C:T p.(Pro3=) NC_000002.12:73385876:C:T p.(Pro3=) NC_000002.12:73385876:C:T Identity +NM_000244.4:c.1413G>A NP_000235.3:p.Glu471= NC_000011.10:64804768:C:T p.(Glu471=) NC_000011.10:64804768:C:T p.(Glu471=) NC_000011.10:64804768:C:T Identity +NM_001035507.3:c.22T>C NP_001030584.1:p.Leu8= NC_000002.12:27052979:T:C p.(Leu8=) NC_000002.12:27052979:T:C p.(Leu8=) NC_000002.12:27052979:T:C Identity +NM_032634.4:c.2253T>C NP_116023.2:p.Ala751= NC_000009.12:35091633:A:G p.(Ala751=) NC_000009.12:35091633:A:G p.(Ala751=) NC_000009.12:35091633:A:G Identity +NM_001003722.2:c.2082C>T NP_001003722.1:p.Ser694= NC_000009.12:128541154:C:T p.(Ser694=) NC_000009.12:128541154:C:T p.(Ser694=) NC_000009.12:128541154:C:T Identity +NM_000059.4:c.8133A>G NP_000050.3:p.Ala2711= NC_000013.11:32363334:A:G p.(Ala2711=) NC_000013.11:32363334:A:G p.(Ala2711=) NC_000013.11:32363334:A:G Identity +NM_001308122.2:c.1677T>G NP_001295051.1:p.Thr559= NC_000005.10:132394202:T:G p.(Thr559=) NC_000005.10:132394202:T:G p.(Thr559=) NC_000005.10:132394202:T:G Identity +NM_004304.5:c.1128C>G NP_004295.2:p.Leu376= NC_000002.12:29531940:G:C p.(Leu376=) NC_000002.12:29531940:G:C p.(Leu376=) NC_000002.12:29531940:G:C Identity +NM_007254.4:c.873C>T NP_009185.2:p.Ala291= NC_000019.10:49862600:G:A p.(Ala291=) NC_000019.10:49862600:G:A p.(Ala291=) NC_000019.10:49862600:G:A Identity +NM_001363823.2:c.1806G>A NP_001350752.1:p.Ala602= NC_000002.12:32154453:G:A p.(Ala602=) NC_000002.12:32154453:G:A p.(Ala602=) NC_000002.12:32154453:G:A Identity +NM_004281.4:c.834C>G NP_004272.2:p.Gly278= NC_000010.11:119672580:C:G p.(Gly278=) NC_000010.11:119672580:C:G p.(Gly278=) NC_000010.11:119672580:C:G Identity +NM_000051.4:c.168T>C NP_000042.3:p.Asn56= NC_000011.10:108227870:T:C p.(Asn56=) NC_000011.10:108227870:T:C p.(Asn56=) NC_000011.10:108227870:T:C Identity +NM_001081640.2:c.6858T>C NP_001075109.1:p.Pro2286= NC_000008.11:47854117:A:G p.(Pro2286=) NC_000008.11:47854117:A:G p.(Pro2286=) NC_000008.11:47854117:A:G Identity +NM_012448.4:c.2232A>G NP_036580.2:p.Pro744= NC_000017.11:42202344:T:C p.(Pro744=) NC_000017.11:42202344:T:C p.(Pro744=) NC_000017.11:42202344:T:C Identity +NM_001164507.2:c.18489G>C NP_001157979.2:p.Ala6163= NC_000002.12:151563912:C:G p.(Ala6163=) NC_000002.12:151563912:C:G p.(Ala6163=) NC_000002.12:151563912:C:G Identity +NM_001346083.2:c.867C>T NP_001333012.1:p.Pro289= NC_000001.11:205061313:C:T p.(Pro289=) NC_000001.11:205061313:C:T p.(Pro289=) NC_000001.11:205061313:C:T Identity +NM_001377486.1:c.573A>G NP_001364415.1:p.Gln191= NC_000016.10:81363918:A:G p.(Gln191=) NC_000016.10:81363918:A:G p.(Gln191=) NC_000016.10:81363918:A:G Identity +NM_000081.4:c.438G>A NP_000072.2:p.Gln146= NC_000001.11:235810379:C:T p.(Gln146=) NC_000001.11:235810379:C:T p.(Gln146=) NC_000001.11:235810379:C:T Identity +NM_001178133.2:c.480T>C NP_001171604.1:p.His160= NC_000010.11:102592606:T:C p.(His160=) NC_000010.11:102592606:T:C p.(His160=) NC_000010.11:102592606:T:C Identity +NM_001943.5:c.384A>G NP_001934.2:p.Thr128= NC_000018.10:31521103:A:G p.(Thr128=) NC_000018.10:31521103:A:G p.(Thr128=) NC_000018.10:31521103:A:G Identity +NM_005559.4:c.3648G>A NP_005550.2:p.Pro1216= NC_000018.10:7011338:C:T p.(Pro1216=) NC_000018.10:7011338:C:T p.(Pro1216=) NC_000018.10:7011338:C:T Identity +NM_015180.6:c.20517G>A NP_055995.4:p.Leu6839= NC_000014.9:64225384:G:A p.(Leu6839=) NC_000014.9:64225384:G:A p.(Leu6839=) NC_000014.9:64225384:G:A Identity +NM_001190981.2:c.2157C>T NP_001177910.1:p.Ser719= NC_000005.10:55941498:G:A p.(Ser719=) NC_000005.10:55941498:G:A p.(Ser719=) NC_000005.10:55941498:G:A Identity +NM_007248.5:c.849G>C NP_009179.2:p.Leu283= NC_000003.12:48467533:G:C p.(Leu283=) NC_000003.12:48467533:G:C p.(Leu283=) NC_000003.12:48467533:G:C Identity +NM_018367.7:c.183G>A NP_060837.3:p.Lys61= NC_000011.10:76926635:G:A p.(Lys61=) NC_000011.10:76926635:G:A p.(Lys61=) NC_000011.10:76926635:G:A Identity +NM_001310332.2:c.717T>C NP_001297261.1:p.Asp239= NC_000014.9:24150420:T:C p.(Asp239=) NC_000014.9:24150420:T:C p.(Asp239=) NC_000014.9:24150420:T:C Identity +NM_007348.4:c.270T>C NP_031374.2:p.Pro90= NC_000001.11:161784011:T:C p.(Pro90=) NC_000001.11:161784011:T:C p.(Pro90=) NC_000001.11:161784011:T:C Identity +NM_001163435.3:c.1848T>C NP_001156907.2:p.Gly616= NC_000004.12:106212761:A:G p.(Gly616=) NC_000004.12:106212761:A:G p.(Gly616=) NC_000004.12:106212761:A:G Identity +NM_000278.5:c.963C>T NP_000269.3:p.His321= NC_000010.11:100824690:C:T p.(His321=) NC_000010.11:100824690:C:T p.(His321=) NC_000010.11:100824690:C:T Identity +NM_001329556.3:c.558G>A NP_001316485.1:p.Pro186= NC_000019.10:1496630:G:A p.(Pro186=) NC_000019.10:1496630:G:A p.(Pro186=) NC_000019.10:1496630:G:A Identity +NM_001199427.2:c.1236A>G NP_001186356.1:p.Thr412= NC_000014.9:102905561:A:G p.(Thr412=) NC_000014.9:102905561:A:G p.(Thr412=) NC_000014.9:102905561:A:G Identity +NM_000343.4:c.1359C>T NP_000334.1:p.Phe453= NC_000022.11:32099260:C:T p.(Phe453=) NC_000022.11:32099260:C:T p.(Phe453=) NC_000022.11:32099260:C:T Identity +NM_198578.4:c.7320A>G NP_940980.4:p.Ser2440= NC_000012.12:40364979:A:G p.(Ser2440=) NC_000012.12:40364979:A:G p.(Ser2440=) NC_000012.12:40364979:A:G Identity +NM_001375.3:c.843C>T NP_001366.1:p.Phe281= NC_000019.10:12876229:G:A p.(Phe281=) NC_000019.10:12876229:G:A p.(Phe281=) NC_000019.10:12876229:G:A Identity +NM_004260.4:c.2874C>T NP_004251.4:p.Ala958= NC_000008.11:144512652:G:A p.(Ala958=) NC_000008.11:144512652:G:A p.(Ala958=) NC_000008.11:144512652:G:A Identity +NM_001003800.2:c.981G>A NP_001003800.1:p.Pro327= NC_000009.12:92720380:C:T p.(Pro327=) NC_000009.12:92720380:C:T p.(Pro327=) NC_000009.12:92720380:C:T Identity +NM_004204.5:c.639C>T NP_004195.2:p.Cys213= NC_000016.10:574712:C:T p.(Cys213=) NC_000016.10:574712:C:T p.(Cys213=) NC_000016.10:574712:C:T Identity +NM_001367916.1:c.192T>C NP_001354845.1:p.Leu64= NC_000023.11:77875507:A:G p.(Leu64=) NC_000023.11:77875507:A:G p.(Leu64=) NC_000023.11:77875507:A:G Identity +NM_020949.3:c.1173G>A NP_066000.2:p.Ser391= NC_000003.12:170481108:C:T p.(Ser391=) NC_000003.12:170481108:C:T p.(Ser391=) NC_000003.12:170481108:C:T Identity +NM_020634.3:c.123C>G NP_065685.1:p.Pro41= NC_000012.12:7695605:G:C p.(Pro41=) NC_000012.12:7695605:G:C p.(Pro41=) NC_000012.12:7695605:G:C Identity +NM_001284301.3:c.990G>A NP_001271230.1:p.Ser330= NC_000007.14:36407849:G:A p.(Ser330=) NC_000007.14:36407849:G:A p.(Ser330=) NC_000007.14:36407849:G:A Identity +NM_001081955.3:c.303C>T NP_001075424.1:p.Tyr101= NC_000017.11:65160329:C:T p.(Tyr101=) NC_000017.11:65160329:C:T p.(Tyr101=) NC_000017.11:65160329:C:T Identity +NM_001348250.2:c.864G>A NP_001335179.1:p.Ala288= NC_000003.12:11025786:G:A p.(Ala288=) NC_000003.12:11025786:G:A p.(Ala288=) NC_000003.12:11025786:G:A Identity +NM_001318219.1:c.1341A>G NP_001305148.1:p.Gln447= NC_000020.11:35496645:A:G p.(Gln447=) NC_000020.11:35496645:A:G p.(Gln447=) NC_000020.11:35496645:A:G Identity +NM_014510.3:c.7506G>A NP_055325.2:p.Arg2502= NC_000007.14:82953446:C:T p.(Arg2502=) NC_000007.14:82953446:C:T p.(Arg2502=) NC_000007.14:82953446:C:T Identity +NM_001145264.2:c.111C>T NP_001138736.1:p.Tyr37= NC_000001.11:156055304:C:T p.(Tyr37=) NC_000001.11:156055304:C:T p.(Tyr37=) NC_000001.11:156055304:C:T Identity +NM_012448.4:c.171C>T NP_036580.2:p.Ala57= NC_000017.11:42227642:G:A p.(Ala57=) NC_000017.11:42227642:G:A p.(Ala57=) NC_000017.11:42227642:G:A Identity +NM_000021.4:c.138C>T NP_000012.1:p.His46= NC_000014.9:73170846:C:T p.(His46=) NC_000014.9:73170846:C:T p.(His46=) NC_000014.9:73170846:C:T Identity +NM_000495.5:c.3669C>T NP_000486.1:p.Gly1223= NC_000023.11:108668382:C:T p.(Gly1223=) NC_000023.11:108668382:C:T p.(Gly1223=) NC_000023.11:108668382:C:T Identity +NM_001112741.2:c.1584C>T NP_001106212.1:p.Pro528= NC_000011.10:17779534:C:T p.(Pro528=) NC_000011.10:17779534:C:T p.(Pro528=) NC_000011.10:17779534:C:T Identity +NM_020461.4:c.3513G>A NP_065194.3:p.Leu1171= NC_000022.11:50220845:C:T p.(Leu1171=) NC_000022.11:50220845:C:T p.(Leu1171=) NC_000022.11:50220845:C:T Identity +NM_000065.5:c.2337A>G NP_000056.2:p.Gln779= NC_000005.10:41149978:T:C p.(Gln779=) NC_000005.10:41149978:T:C p.(Gln779=) NC_000005.10:41149978:T:C Identity +NM_001207055.2:c.2070C>T NP_001193984.1:p.Tyr690= NC_000020.11:32807785:C:T p.(Tyr690=) NC_000020.11:32807785:C:T p.(Tyr690=) NC_000020.11:32807785:C:T Identity +NM_001207055.2:c.1029C>T NP_001193984.1:p.Asn343= NC_000020.11:32795496:C:T p.(Asn343=) NC_000020.11:32795496:C:T p.(Asn343=) NC_000020.11:32795496:C:T Identity +NM_001346279.2:c.1461C>T NP_001333208.1:p.His487= NC_000011.10:10764594:C:T p.(His487=) NC_000011.10:10764594:C:T p.(His487=) NC_000011.10:10764594:C:T Identity +NM_000489.6:c.5184A>G NP_000480.3:p.Ala1728= NC_000023.11:77620482:T:C p.(Ala1728=) NC_000023.11:77620482:T:C p.(Ala1728=) NC_000023.11:77620482:T:C Identity +NM_000266.4:c.165T>C NP_000257.1:p.Cys55= NC_000023.11:43958480:A:G p.(Cys55=) NC_000023.11:43958480:A:G p.(Cys55=) NC_000023.11:43958480:A:G Identity +NM_032888.4:c.1902C>T NP_116277.2:p.Gly634= NC_000009.12:114169456:C:T p.(Gly634=) NC_000009.12:114169456:C:T p.(Gly634=) NC_000009.12:114169456:C:T Identity +NM_001384466.1:c.1893A>G NP_001371395.1:p.Glu631= NC_000011.10:64118159:A:G p.(Glu631=) NC_000011.10:64118159:A:G p.(Glu631=) NC_000011.10:64118159:A:G Identity +NM_002067.5:c.858G>C NP_002058.2:p.Ser286= NC_000019.10:3119327:G:C p.(Ser286=) NC_000019.10:3119327:G:C p.(Ser286=) NC_000019.10:3119327:G:C Identity +NM_000273.3:c.1005G>A NP_000264.2:p.Ser335= NC_000023.11:9739599:C:T p.(Ser335=) NC_000023.11:9739599:C:T p.(Ser335=) NC_000023.11:9739599:C:T Identity +NM_001036.6:c.6717G>A NP_001027.3:p.Gly2239= NC_000015.10:33722811:G:A p.(Gly2239=) NC_000015.10:33722811:G:A p.(Gly2239=) NC_000015.10:33722811:G:A Identity +NM_001370074.1:c.1398G>A NP_001357003.1:p.Pro466= NC_000001.11:243505290:C:T p.(Pro466=) NC_000001.11:243505290:C:T p.(Pro466=) NC_000001.11:243505290:C:T Identity +NM_003320.5:c.1323C>T NP_003311.2:p.Ser441= NC_000011.10:8100543:C:T p.(Ser441=) NC_000011.10:8100543:C:T p.(Ser441=) NC_000011.10:8100543:C:T Identity +NM_001271427.2:c.696G>A NP_001258356.1:p.Glu232= NC_000001.11:19240386:C:T p.(Glu232=) NC_000001.11:19240386:C:T p.(Glu232=) NC_000001.11:19240386:C:T Identity +NM_001282684.2:c.336G>A NP_001269613.2:p.Pro112= NC_000022.11:37056356:G:A p.(Pro112=) NC_000022.11:37056356:G:A p.(Pro112=) NC_000022.11:37056356:G:A Identity +NM_001322267.2:c.723G>A NP_001309196.1:p.Pro241= NC_000009.12:113291542:G:A p.(Pro241=) NC_000009.12:113291542:G:A p.(Pro241=) NC_000009.12:113291542:G:A Identity +NM_005559.4:c.6819G>A NP_005550.2:p.Gly2273= NC_000018.10:6971936:C:T p.(Gly2273=) NC_000018.10:6971936:C:T p.(Gly2273=) NC_000018.10:6971936:C:T Identity +NM_020632.3:c.1467C>T NP_065683.2:p.Asn489= NC_000007.14:138745133:G:A p.(Asn489=) NC_000007.14:138745133:G:A p.(Asn489=) NC_000007.14:138745133:G:A Identity +NM_021831.6:c.2562C>T NP_068603.4:p.Asp854= NC_000002.12:27070163:C:T p.(Asp854=) NC_000002.12:27070163:C:T p.(Asp854=) NC_000002.12:27070163:C:T Identity +NM_001164665.2:c.201G>A NP_001158137.1:p.Pro67= NC_000007.14:138919424:C:T p.(Pro67=) NC_000007.14:138919424:C:T p.(Pro67=) NC_000007.14:138919424:C:T Identity +NM_012203.2:c.387C>A NP_036335.1:p.Ala129= NC_000009.12:37426636:C:A p.(Ala129=) NC_000009.12:37426636:C:A p.(Ala129=) NC_000009.12:37426636:C:A Identity +NM_032790.4:c.128_131dup NP_116179.2:p.Pro45Alafs NC_000012.12:121626872:CCCGCC:CCCGCCCGCC p.(Pro45AlafsTer44) NW_018654719.1:32643:CCCGCC:CCCGCCCGCC p.(Pro45AlafsTer44) ERR:SPDI Analogous +NM_001005862.3:c.2980C>T NP_001005862.1:p.Leu994= NC_000017.11:39726913:C:T p.(Leu994=) NC_000017.11:39726913:C:T p.(Leu994=) NC_000017.11:39726913:C:T Identity +NM_001203263.2:c.1047C>T NP_001190192.2:p.Asn349= NC_000003.12:9928473:C:T p.(Asn349=) NC_000003.12:9928473:C:T p.(Asn349=) NC_000003.12:9928473:C:T Identity +NM_001006600.3:c.3228A>G NP_001006600.1:p.Arg1076= NC_000005.10:66054545:A:G p.(Arg1076=) NC_000005.10:66054545:A:G p.(Arg1076=) NC_000005.10:66054545:A:G Identity +NM_001271769.2:c.1039T>C NP_001258698.1:p.Leu347= NC_000005.10:78165653:A:G p.(Leu347=) NC_000005.10:78165653:A:G p.(Leu347=) NC_000005.10:78165653:A:G Identity +NM_014510.3:c.7605C>T NP_055325.2:p.Gly2535= NC_000007.14:82953347:G:A p.(Gly2535=) NC_000007.14:82953347:G:A p.(Gly2535=) NC_000007.14:82953347:G:A Identity +NM_006445.4:c.4689C>T NP_006436.3:p.His1563= NC_000017.11:1660527:G:A p.(His1563=) NC_000017.11:1660527:G:A p.(His1563=) NC_000017.11:1660527:G:A Identity +NM_001326358.2:c.948A>C NP_001313287.1:p.Thr316= NC_000016.10:77353882:T:G p.(Thr316=) NC_000016.10:77353882:T:G p.(Thr316=) NC_000016.10:77353882:T:G Identity +NM_144701.3:c.843A>G NP_653302.2:p.Glu281= NC_000001.11:67219617:A:G p.(Glu281=) NC_000001.11:67219617:A:G p.(Glu281=) NC_000001.11:67219617:A:G Identity +NM_000168.6:c.1464G>A NP_000159.3:p.Ala488= NC_000007.14:42023500:C:T p.(Ala488=) NC_000007.14:42023500:C:T p.(Ala488=) NC_000007.14:42023500:C:T Identity +NM_000234.3:c.2205C>T NP_000225.1:p.Ile735= NC_000019.10:48122960:G:A p.(Ile735=) NC_000019.10:48122960:G:A p.(Ile735=) NC_000019.10:48122960:G:A Identity +NM_000033.4:c.600C>T NP_000024.2:p.Asp200= NC_000023.11:153725865:C:T p.(Asp200=) NC_000023.11:153725865:C:T p.(Asp200=) NC_000023.11:153725865:C:T Identity +NM_001375291.1:c.2811A>G NP_001362220.1:p.Val937= NC_000009.12:95972561:A:G p.(Val937=) NC_000009.12:95972561:A:G p.(Val937=) NC_000009.12:95972561:A:G Identity +NM_018706.7:c.1938T>C NP_061176.4:p.Phe646= NC_000010.11:12106286:T:C p.(Phe646=) NC_000010.11:12106286:T:C p.(Phe646=) NC_000010.11:12106286:T:C Identity +NM_001284351.3:c.408C>T NP_001271280.1:p.Phe136= NC_000005.10:491874:G:A p.(Phe136=) NC_000005.10:491874:G:A p.(Phe136=) NC_000005.10:491874:G:A Identity +NM_001006600.3:c.3772T>C NP_001006600.1:p.Leu1258= NC_000005.10:66076919:T:C p.(Leu1258=) NC_000005.10:66076919:T:C p.(Leu1258=) NC_000005.10:66076919:T:C Identity +NM_000543.5:c.106_107insCGC NP_000534.3:p.Val36delinsAlaLeu NC_000011.10:6390704::CGC p.(Val36delinsAlaLeu) NC_000011.10:6390703:G:CGC p.(Val36delinsAlaLeu) NC_000011.10:6390704:GT:CGC Identity +NM_032043.3:c.3345C>A NP_114432.2:p.Ser1115= NC_000017.11:61683700:G:T p.(Ser1115=) NC_000017.11:61683700:G:T p.(Ser1115=) NC_000017.11:61683700:G:T Identity +NM_000059.4:c.4509A>G NP_000050.3:p.Leu1503= NC_000013.11:32338863:A:G p.(Leu1503=) NC_000013.11:32338863:A:G p.(Leu1503=) NC_000013.11:32338863:A:G Identity +NM_001407240.1:c.768C>T NP_001394169.1:p.Arg256= NC_000001.11:55052398:C:T p.(Arg256=) NC_000001.11:55052398:C:T p.(Arg256=) NC_000001.11:55052398:C:T Identity +NM_001040113.2:c.1014G>A NP_001035202.1:p.Glu338= NC_000016.10:15771608:C:T p.(Glu338=) NC_000016.10:15771608:C:T p.(Glu338=) NC_000016.10:15771608:C:T Identity +NM_000077.5:c.36G>A NP_000068.1:p.Ser12= NC_000009.12:21974791:C:T p.(Ser12=) NC_000009.12:21974791:C:T p.(Ser12=) NC_000009.12:21974791:C:T Identity +NM_000090.4:c.1275T>A NP_000081.2:p.Pro425= NC_000002.12:188994313:T:A p.(Pro425=) NC_000002.12:188994313:T:A p.(Pro425=) NC_000002.12:188994313:T:A Identity +NM_001304815.2:c.6925C>T NP_001291744.1:p.Leu2309= NC_000019.10:42294174:C:T p.(Leu2309=) NC_000019.10:42294174:C:T p.(Leu2309=) NC_000019.10:42294174:C:T Identity +NM_001105206.3:c.3036T>C NP_001098676.2:p.Asn1012= NC_000006.12:112139825:A:G p.(Asn1012=) NC_000006.12:112139825:A:G p.(Asn1012=) NC_000006.12:112139825:A:G Identity +NM_005249.5:c.1341C>T NP_005240.3:p.Ala447= NC_000014.9:28768619:C:T p.(Ala447=) NC_000014.9:28768619:C:T p.(Ala447=) NC_000014.9:28768619:C:T Identity +NM_139284.3:c.456T>C NP_644813.1:p.His152= NC_000019.10:35131790:A:G p.(His152=) NC_000019.10:35131790:A:G p.(His152=) NC_000019.10:35131790:A:G Identity +NM_012463.4:c.1971A>G NP_036595.2:p.Ala657= NC_000012.12:123751144:A:G p.(Ala657=) NC_000012.12:123751144:A:G p.(Ala657=) NC_000012.12:123751144:A:G Identity +NM_001291415.2:c.2436C>T NP_001278344.1:p.Cys812= NC_000023.11:45069934:C:T p.(Cys812=) NC_000023.11:45069934:C:T p.(Cys812=) NC_000023.11:45069934:C:T Identity +NM_024496.4:c.261A>G NP_078772.1:p.Glu87= NC_000014.9:77027531:T:C p.(Glu87=) NC_000014.9:77027531:T:C p.(Glu87=) NC_000014.9:77027531:T:C Identity +NM_001164623.3:c.1890C>T NP_001158095.1:p.Arg630= NC_000008.11:140541307:G:A p.(Arg630=) NC_000008.11:140541307:G:A p.(Arg630=) NC_000008.11:140541307:G:A Identity +NM_001256850.1:c.58245G>A NP_001243779.1:p.Val19415= NC_000002.12:178588556:C:T p.(Val19415=) NC_000002.12:178588556:C:T p.(Val19415=) NC_000002.12:178588556:C:T Identity +NM_001379200.1:c.1242C>A NP_001366129.1:p.Pro414= NC_000022.11:19766593:C:A p.(Pro414=) NC_000022.11:19766593:C:A p.(Pro414=) NC_000022.11:19766593:C:A Identity +NM_015662.3:c.4248T>C NP_056477.1:p.Ala1416= NC_000002.12:27449356:A:G p.(Ala1416=) NC_000002.12:27449356:A:G p.(Ala1416=) NC_000002.12:27449356:A:G Identity +NM_000068.4:c.6246C>T NP_000059.3:p.Ser2082= NC_000019.10:13212177:G:A p.(Ser2082=) NC_000019.10:13212177:G:A p.(Ser2082=) NC_000019.10:13212177:G:A Identity +NM_000089.4:c.3186T>G NP_000080.2:p.Ala1062= NC_000007.14:94427213:T:G p.(Ala1062=) NC_000007.14:94427213:T:G p.(Ala1062=) NC_000007.14:94427213:T:G Identity +NM_001319211.2:c.1653G>A NP_001306140.1:p.Pro551= NC_000001.11:100499333:G:A p.(Pro551=) NC_000001.11:100499333:G:A p.(Pro551=) NC_000001.11:100499333:G:A Identity +NM_000248.4:c.237G>A NP_000239.1:p.Thr79= NC_000003.12:69938024:G:A p.(Thr79=) NC_000003.12:69938024:G:A p.(Thr79=) NC_000003.12:69938024:G:A Identity +NM_001379141.1:c.2985G>A NP_001366070.1:p.Pro995= NC_000018.10:44952324:G:A p.(Pro995=) NC_000018.10:44952324:G:A p.(Pro995=) NC_000018.10:44952324:G:A Identity +NM_005458.8:c.2754C>T NP_005449.5:p.Cys918= NC_000009.12:98290655:G:A p.(Cys918=) NC_000009.12:98290655:G:A p.(Cys918=) NC_000009.12:98290655:G:A Identity +NM_001025205.2:c.954C>T NP_001020376.1:p.Ile318= NC_000003.12:184182043:C:T p.(Ile318=) NC_000003.12:184182043:C:T p.(Ile318=) NC_000003.12:184182043:C:T Identity +NM_001025205.2:c.1179G>A NP_001020376.1:p.Ala393= NC_000003.12:184183492:G:A p.(Ala393=) NC_000003.12:184183492:G:A p.(Ala393=) NC_000003.12:184183492:G:A Identity +NM_133379.5:c.13632C>T NP_596870.2:p.Asp4544= NC_000002.12:178748767:G:A p.(Asp4544=) NC_000002.12:178748767:G:A p.(Asp4544=) NC_000002.12:178748767:G:A Identity +NM_003849.4:c.402G>A NP_003840.2:p.Glu134= NC_000002.12:84441375:C:T p.(Glu134=) NC_000002.12:84441375:C:T p.(Glu134=) NC_000002.12:84441375:C:T Identity +NM_007118.4:c.2205C>T NP_009049.2:p.Ile735= NC_000005.10:14358335:C:T p.(Ile735=) NC_000005.10:14358335:C:T p.(Ile735=) NC_000005.10:14358335:C:T Identity +NM_001128225.3:c.381C>T NP_001121697.2:p.Pro127= NC_000011.10:47412004:C:T p.(Pro127=) NC_000011.10:47412004:C:T p.(Pro127=) NC_000011.10:47412004:C:T Identity +NM_001365276.2:c.9849G>A NP_001352205.1:p.Thr3283= NC_000006.12:32048558:C:T p.(Thr3283=) NC_000006.12:32048558:C:T p.(Thr3283=) NC_000006.12:32048558:C:T Identity +NM_001909.5:c.366G>A NP_001900.1:p.Lys122= NC_000011.10:1759073:C:T p.(Lys122=) NC_000011.10:1759073:C:T p.(Lys122=) NC_000011.10:1759073:C:T Identity +NM_001256182.2:c.6786C>G NP_001243111.1:p.Gly2262= NC_000016.10:89279755:G:C p.(Gly2262=) NC_000016.10:89279755:G:C p.(Gly2262=) NC_000016.10:89279755:G:C Identity +NM_001282164.2:c.828T>C NP_001269093.1:p.Asn276= NC_000012.12:132621278:T:C p.(Asn276=) NC_000012.12:132621278:T:C p.(Asn276=) NC_000012.12:132621278:T:C Identity +NM_001369.3:c.4704T>C NP_001360.1:p.Arg1568= NC_000005.10:13862639:A:G p.(Arg1568=) NC_000005.10:13862639:A:G p.(Arg1568=) NC_000005.10:13862639:A:G Identity +NM_003106.4:c.561T>C NP_003097.1:p.Asn187= NC_000003.12:181712920:T:C p.(Asn187=) NC_000003.12:181712920:T:C p.(Asn187=) NC_000003.12:181712920:T:C Identity +NM_001958.5:c.747G>A NP_001949.1:p.Pro249= NC_000020.11:63493161:C:T p.(Pro249=) NC_000020.11:63493161:C:T p.(Pro249=) NC_000020.11:63493161:C:T Identity +NM_001365276.2:c.8013G>A NP_001352205.1:p.Ala2671= NC_000006.12:32056715:C:T p.(Ala2671=) NC_000006.12:32056715:C:T p.(Ala2671=) NC_000006.12:32056715:C:T Identity +NM_001378454.1:c.11934T>C NP_001365383.1:p.Pro3978= NC_000002.12:73601255:T:C p.(Pro3978=) NC_000002.12:73601255:T:C p.(Pro3978=) NC_000002.12:73601255:T:C Identity +NM_002473.6:c.5118G>A NP_002464.1:p.Leu1706= NC_000022.11:36285896:C:T p.(Leu1706=) NC_000022.11:36285896:C:T p.(Leu1706=) NC_000022.11:36285896:C:T Identity +NM_001330593.2:c.1197C>T NP_001317522.1:p.Val399= NC_000008.11:101619684:C:T p.(Val399=) NC_000008.11:101619684:C:T p.(Val399=) NC_000008.11:101619684:C:T Identity +NM_018112.3:c.750G>A NP_060582.1:p.Pro250= NC_000009.12:105773953:G:A p.(Pro250=) NC_000009.12:105773953:G:A p.(Pro250=) NC_000009.12:105773953:G:A Identity +NM_001330593.2:c.1593C>T NP_001317522.1:p.Asp531= NC_000008.11:101649441:C:T p.(Asp531=) NC_000008.11:101649441:C:T p.(Asp531=) NC_000008.11:101649441:C:T Identity +NM_017617.5:c.5724C>T NP_060087.3:p.Ala1908= NC_000009.12:136500761:G:A p.(Ala1908=) NC_000009.12:136500761:G:A p.(Ala1908=) NC_000009.12:136500761:G:A Identity +NM_000142.5:c.534C>T NP_000133.1:p.Ala178= NC_000004.12:1801454:C:T p.(Ala178=) NC_000004.12:1801454:C:T p.(Ala178=) NC_000004.12:1801454:C:T Identity +NM_002317.7:c.216G>A NP_002308.2:p.Pro72= NC_000005.10:122077769:C:T p.(Pro72=) NC_000005.10:122077769:C:T p.(Pro72=) NC_000005.10:122077769:C:T Identity +NM_001206999.2:c.2880T>C NP_001193928.1:p.Ala960= NC_000012.12:119752073:A:G p.(Ala960=) NC_000012.12:119752073:A:G p.(Ala960=) NC_000012.12:119752073:A:G Identity +NM_007123.6:c.1041T>C NP_009054.6:p.Asp347= NC_000001.11:216325406:A:G p.(Asp347=) NC_000001.11:216325406:A:G p.(Asp347=) NC_000001.11:216325406:A:G Identity +NM_001365276.2:c.4323C>T NP_001352205.1:p.Tyr1441= NC_000006.12:32079084:G:A p.(Tyr1441=) NC_000006.12:32079084:G:A p.(Tyr1441=) NC_000006.12:32079084:G:A Identity +NM_000501.4:c.1506C>T NP_000492.2:p.Gly502= NC_000007.14:74059976:C:T p.(Gly502=) NC_000007.14:74059976:C:T p.(Gly502=) NC_000007.14:74059976:C:T Identity +NM_001397406.1:c.471G>A NP_001384335.1:p.Pro157= NC_000019.10:10310566:C:T p.(Pro157=) NC_000019.10:10310566:C:T p.(Pro157=) NC_000019.10:10310566:C:T Identity +NM_001303256.3:c.195C>T NP_001290185.1:p.Cys65= NC_000022.11:30950407:G:A p.(Cys65=) NC_000022.11:30950407:G:A p.(Cys65=) NC_000022.11:30950407:G:A Identity +NM_001350748.2:c.1617G>A NP_001337677.1:p.Thr539= NC_000013.11:101229401:C:T p.(Thr539=) NC_000013.11:101229401:C:T p.(Thr539=) NC_000013.11:101229401:C:T Identity +NM_006059.4:c.2736G>A NP_006050.3:p.Arg912= NC_000009.12:131068219:G:A p.(Arg912=) NC_000009.12:131068219:G:A p.(Arg912=) NC_000009.12:131068219:G:A Identity +NM_001244808.3:c.288C>T NP_001231737.1:p.Pro96= NC_000003.12:71053767:G:A p.(Pro96=) NC_000003.12:71053767:G:A p.(Pro96=) NC_000003.12:71053767:G:A Identity +NM_001199954.3:c.624C>T NP_001186883.1:p.Ile208= NC_000017.11:81511365:G:A p.(Ile208=) NC_000017.11:81511365:G:A p.(Ile208=) NC_000017.11:81511365:G:A Identity +NM_001372044.2:c.2943T>A NP_001358973.1:p.Pro981= NC_000022.11:50720550:T:A ERR:TranscriptMismatch:expected T, found G at transcript indices 3312..3313 NC_000022.11:50720589:G:A ERR:NM_001372044.2:c.2943T>A: Variant reference (T) does not agree with reference sequence (G) ERR:NM_001372044.2:c.2943T>A: Variant reference (T) does not agree with reference sequence (G) Unknown +NM_001277269.2:c.7290G>A NP_001264198.1:p.Pro2430= NC_000011.10:17633860:G:A p.(Pro2430=) NC_000011.10:17633860:G:A p.(Pro2430=) NC_000011.10:17633860:G:A Identity +NM_003356.4:c.630C>T NP_003347.1:p.Tyr210= NC_000011.10:74004496:G:A p.(Tyr210=) NC_000011.10:74004496:G:A p.(Tyr210=) NC_000011.10:74004496:G:A Identity +NM_001005463.3:c.229A>C NP_001005463.1:p.Arg77= NC_000010.11:129963428:T:G p.(Arg77=) NC_000010.11:129963428:T:G p.(Arg77=) NC_000010.11:129963428:T:G Identity +NM_001105243.2:c.2892C>G NP_001098713.1:p.Thr964= NC_000023.11:100296690:G:C p.(Thr964=) NC_000023.11:100296690:G:C p.(Thr964=) NC_000023.11:100296690:G:C Identity +NM_002281.4:c.297G>A NP_002272.2:p.Ala99= NC_000012.12:52291168:C:T p.(Ala99=) NC_000012.12:52291168:C:T p.(Ala99=) NC_000012.12:52291168:C:T Identity +NM_001278298.2:c.1716T>C NP_001265227.1:p.Thr572= NC_000003.12:130385218:T:C p.(Thr572=) NC_000003.12:130385218:T:C p.(Thr572=) NC_000003.12:130385218:T:C Identity +NM_032242.4:c.1614C>T NP_115618.3:p.His538= NC_000003.12:127004705:C:T p.(His538=) NC_000003.12:127004705:C:T p.(His538=) NC_000003.12:127004705:C:T Identity +NM_005477.3:c.3378C>T NP_005468.1:p.Ser1126= NC_000015.10:73322714:G:A p.(Ser1126=) NC_000015.10:73322714:G:A p.(Ser1126=) NC_000015.10:73322714:G:A Identity +NM_001199281.1:c.2223T>G NP_001186210.1:p.Leu741= NC_000022.11:24067171:T:G p.(Leu741=) NC_000022.11:24067171:T:G p.(Leu741=) NC_000022.11:24067171:T:G Identity +NM_012433.4:c.2631T>C NP_036565.2:p.Gly877= NC_000002.12:197400801:A:G p.(Gly877=) NC_000002.12:197400801:A:G p.(Gly877=) NC_000002.12:197400801:A:G Identity +NM_001350236.2:c.63C>T NP_001337165.1:p.His21= NC_000011.10:126304142:C:T p.(His21=) NC_000011.10:126304142:C:T p.(His21=) NC_000011.10:126304142:C:T Identity +NM_001972.4:c.204C>T NP_001963.1:p.Ala68= NC_000019.10:853011:C:T p.(Ala68=) NC_000019.10:853011:C:T p.(Ala68=) NC_000019.10:853011:C:T Identity +NM_000836.4:c.2697T>C NP_000827.2:p.Ala899= NC_000019.10:48442622:T:C p.(Ala899=) NC_000019.10:48442622:T:C p.(Ala899=) NC_000019.10:48442622:T:C Identity +NM_001014342.3:c.5865C>T NP_001014364.1:p.His1955= NC_000001.11:152351920:G:A p.(His1955=) NC_000001.11:152351920:G:A p.(His1955=) NC_000001.11:152351920:G:A Identity +NM_001858.6:c.3339A>C NP_001849.2:p.Pro1113= NC_000006.12:70207183:A:C p.(Pro1113=) NC_000006.12:70207183:A:C p.(Pro1113=) NC_000006.12:70207183:A:C Identity +NM_001369787.1:c.456T>G NP_001356716.1:p.Val152= NC_000012.12:25209905:A:C p.(Val152=) NC_000012.12:25209905:A:C p.(Val152=) NC_000012.12:25209905:A:C Identity +NM_001378285.1:c.789C>T NP_001365214.1:p.His263= NC_000003.12:149960746:C:T p.(His263=) NC_000003.12:149960746:C:T p.(His263=) NC_000003.12:149960746:C:T Identity +NM_006015.6:c.393G>C NP_006006.3:p.Gly131= NC_000001.11:26696795:G:C p.(Gly131=) NC_000001.11:26696795:G:C p.(Gly131=) NC_000001.11:26696795:G:C Identity +NM_001370.2:c.12420G>A NP_001361.1:p.Arg4140= NC_000002.12:84819350:G:A p.(Arg4140=) NC_000002.12:84819350:G:A p.(Arg4140=) NC_000002.12:84819350:G:A Identity +NM_001350859.2:c.1845A>G NP_001337788.1:p.Thr615= NC_000003.12:134603671:T:C p.(Thr615=) NC_000003.12:134603671:T:C p.(Thr615=) NC_000003.12:134603671:T:C Identity +NM_001306079.2:c.4098T>C NP_001293008.1:p.Asp1366= NC_000002.12:27236495:T:C p.(Asp1366=) NC_000002.12:27236495:T:C p.(Asp1366=) NC_000002.12:27236495:T:C Identity +NM_001256182.2:c.6375C>T NP_001243111.1:p.Ala2125= NC_000016.10:89280166:G:A p.(Ala2125=) NC_000016.10:89280166:G:A p.(Ala2125=) NC_000016.10:89280166:G:A Identity +NM_001756.4:c.378C>T NP_001747.3:p.Thr126= NC_000014.9:94314270:G:A p.(Thr126=) NC_000014.9:94314270:G:A p.(Thr126=) NC_000014.9:94314270:G:A Identity +NM_001039141.3:c.651C>T NP_001034230.1:p.Ser217= NC_000022.11:37723206:C:T p.(Ser217=) NC_000022.11:37723206:C:T p.(Ser217=) NC_000022.11:37723206:C:T Identity +NM_020856.4:c.2283T>C NP_065907.2:p.Ala761= NC_000019.10:31277509:A:G p.(Ala761=) NC_000019.10:31277509:A:G p.(Ala761=) NC_000019.10:31277509:A:G Identity +NM_003345.5:c.138A>G NP_003336.1:p.Pro46= NC_000016.10:1314363:A:G p.(Pro46=) NC_000016.10:1314363:A:G p.(Pro46=) NC_000016.10:1314363:A:G Identity +NM_001080495.3:c.8730C>T NP_001073964.2:p.Asp2910= NC_000007.14:5308282:G:A p.(Asp2910=) NC_000007.14:5308282:G:A p.(Asp2910=) NC_000007.14:5308282:G:A Identity +NM_032208.3:c.1497C>T NP_115584.1:p.Asn499= NC_000002.12:69245286:C:T p.(Asn499=) NC_000002.12:69245286:C:T p.(Asn499=) NC_000002.12:69245286:C:T Identity +NM_001079846.1:c.6237C>T NP_001073315.1:p.Pro2079= NC_000016.10:3728695:G:A p.(Pro2079=) NC_000016.10:3728695:G:A p.(Pro2079=) NC_000016.10:3728695:G:A Identity +NM_001256182.2:c.7404_7427del NP_001243111.1:p.Glu2468_Tyr2476delinsAsp NC_000016.10:89279114:TAGGAGCCCGTGTAGGTGACGTACT:T p.(Glu2468_Tyr2476delinsAsp) NC_000016.10:89279114:TAGGAGCCCGTGTAGGTGACGTACT:T p.(Glu2468_Tyr2476delinsAsp) NC_000016.10:89279114:TAGGAGCCCGTGTAGGTGACGTAC: Identity +NM_001321732.2:c.504C>T NP_001308661.1:p.Cys168= NC_000005.10:177514753:G:A p.(Cys168=) NC_000005.10:177514753:G:A p.(Cys168=) NC_000005.10:177514753:G:A Identity +NM_001042544.1:c.2295C>T NP_001036009.1:p.Tyr765= NC_000019.10:40611898:C:T p.(Tyr765=) NC_000019.10:40611898:C:T p.(Tyr765=) NC_000019.10:40611898:C:T Identity +NM_001146702.2:c.3795T>A NP_001140174.1:p.Ala1265= NC_000023.11:53194180:A:T p.(Ala1265=) NC_000023.11:53194180:A:T p.(Ala1265=) NC_000023.11:53194180:A:T Identity +NM_003754.3:c.561C>T NP_003745.1:p.His187= NC_000011.10:7992931:C:T p.(His187=) NC_000011.10:7992931:C:T p.(His187=) NC_000011.10:7992931:C:T Identity +NM_001317985.2:c.942C>T NP_001304914.1:p.Asp314= NC_000017.11:28858808:C:T p.(Asp314=) NC_000017.11:28858808:C:T p.(Asp314=) NC_000017.11:28858808:C:T Identity +NM_032656.4:c.3195C>T NP_116045.2:p.Ala1065= NC_000012.12:124950169:G:A p.(Ala1065=) NC_000012.12:124950169:G:A p.(Ala1065=) NC_000012.12:124950169:G:A Identity +NM_173602.3:c.4431T>C NP_775873.2:p.Ile1477= NC_000012.12:50741491:T:C p.(Ile1477=) NC_000012.12:50741491:T:C p.(Ile1477=) NC_000012.12:50741491:T:C Identity +NM_001377263.1:c.105T>C NP_001364192.1:p.His35= NC_000011.10:73959599:T:C p.(His35=) NC_000011.10:73959599:T:C p.(His35=) NC_000011.10:73959599:T:C Identity +NM_014365.3:c.147C>T NP_055180.1:p.Pro49= NC_000012.12:119179458:C:T p.(Pro49=) NC_000012.12:119179458:C:T p.(Pro49=) NC_000012.12:119179458:C:T Identity +NM_000296.4:c.5577T>C NP_000287.4:p.Ala1859= NC_000016.10:2109589:A:G p.(Ala1859=) NC_000016.10:2109589:A:G p.(Ala1859=) NC_000016.10:2109589:A:G Identity +NM_000435.3:c.624C>T NP_000426.2:p.Asn208= NC_000019.10:15192014:G:A p.(Asn208=) NC_000019.10:15192014:G:A p.(Asn208=) NC_000019.10:15192014:G:A Identity +NM_001378414.1:c.2577C>T NP_001365343.1:p.Asp859= NC_000002.12:239082176:G:A p.(Asp859=) NC_000002.12:239082176:G:A p.(Asp859=) NC_000002.12:239082176:G:A Identity +NM_001025295.3:c.96G>A NP_001020466.1:p.Pro32= NC_000011.10:299394:C:T p.(Pro32=) NC_000011.10:299394:C:T p.(Pro32=) NC_000011.10:299394:C:T Identity +NM_004667.6:c.7680T>C NP_004658.3:p.Asn2560= NC_000015.10:28201491:A:G p.(Asn2560=) NC_000015.10:28201491:A:G p.(Asn2560=) NC_000015.10:28201491:A:G Identity +NM_015114.3:c.1968T>C NP_055929.1:p.Asn656= NC_000012.12:132730193:A:G p.(Asn656=) NC_000012.12:132730193:A:G p.(Asn656=) NC_000012.12:132730193:A:G Identity +NM_003728.4:c.1614G>A NP_003719.3:p.Ser538= NC_000004.12:95218999:C:T p.(Ser538=) NC_000004.12:95218999:C:T p.(Ser538=) NC_000004.12:95218999:C:T Identity +NM_001305878.2:c.2226C>T NP_001292807.1:p.Asp742= NC_000008.11:41943749:G:A p.(Asp742=) NC_000008.11:41943749:G:A p.(Asp742=) NC_000008.11:41943749:G:A Identity +NM_001242795.2:c.15C>T NP_001229724.1:p.Tyr5= NC_000016.10:56805526:C:T p.(Tyr5=) NC_000016.10:56805526:C:T p.(Tyr5=) NC_000016.10:56805526:C:T Identity +NM_000356.4:c.3303G>A NP_000347.2:p.Arg1101= NC_000005.10:150392723:G:A p.(Arg1101=) NC_000005.10:150392723:G:A p.(Arg1101=) NC_000005.10:150392723:G:A Identity +NM_001018111.3:c.1126T>C NP_001018121.1:p.Leu376= NC_000007.14:131506701:A:G p.(Leu376=) NC_000007.14:131506701:A:G p.(Leu376=) NC_000007.14:131506701:A:G Identity +NM_001348355.2:c.1011C>T NP_001335284.1:p.Leu337= NC_000019.10:8550237:G:A p.(Leu337=) NC_000019.10:8550237:G:A p.(Leu337=) NC_000019.10:8550237:G:A Identity +NM_198075.4:c.729G>A NP_932341.1:p.Pro243= NC_000011.10:551234:G:A p.(Pro243=) NC_000011.10:551234:G:A p.(Pro243=) NC_000011.10:551234:G:A Identity +NM_001291088.2:c.1707T>A NP_001278017.1:p.Ser569= NC_000019.10:37893995:A:T p.(Ser569=) NC_000019.10:37893995:A:T p.(Ser569=) NC_000019.10:37893995:A:T Identity +NM_007118.4:c.1521G>A NP_009049.2:p.Ser507= NC_000005.10:14316532:G:A p.(Ser507=) NC_000005.10:14316532:G:A p.(Ser507=) NC_000005.10:14316532:G:A Identity +NM_001282738.2:c.489T>C NP_001269667.1:p.Ala163= NC_000022.11:30870558:T:C p.(Ala163=) NC_000022.11:30870558:T:C p.(Ala163=) NC_000022.11:30870558:T:C Identity +NM_001323599.2:c.2011C>A NP_001310528.1:p.Arg671= NC_000010.11:29523672:G:T p.(Arg671=) NC_000010.11:29523672:G:T p.(Arg671=) NC_000010.11:29523672:G:T Identity +NM_001288607.2:c.1302T>C NP_001275536.1:p.Gly434= NC_000001.11:150554632:T:C p.(Gly434=) NC_000001.11:150554632:T:C p.(Gly434=) NC_000001.11:150554632:T:C Identity +NM_005392.4:c.372C>T NP_005383.3:p.Thr124= NC_000009.12:93645700:C:T p.(Thr124=) NC_000009.12:93645700:C:T p.(Thr124=) NC_000009.12:93645700:C:T Identity +NM_001012426.2:c.75G>A NP_001012426.1:p.Gly25= NC_000006.12:41565834:G:A p.(Gly25=) NC_000006.12:41565834:G:A p.(Gly25=) NC_000006.12:41565834:G:A Identity +NM_001394062.1:c.756G>A NP_001380991.1:p.Gln252= NC_000001.11:39283248:G:A p.(Gln252=) NC_000001.11:39283248:G:A p.(Gln252=) NC_000001.11:39283248:G:A Identity +NM_001242884.2:c.375T>C NP_001229813.1:p.Ala125= NC_000001.11:15945754:A:G p.(Ala125=) NC_000001.11:15945754:A:G p.(Ala125=) NC_000001.11:15945754:A:G Identity +NM_005245.4:c.5979C>T NP_005236.2:p.Thr1993= NC_000004.12:186620606:G:A p.(Thr1993=) NC_000004.12:186620606:G:A p.(Thr1993=) NC_000004.12:186620606:G:A Identity +NM_001194.4:c.915C>T NP_001185.3:p.Phe305= NC_000019.10:603825:C:T p.(Phe305=) NC_000019.10:603825:C:T p.(Phe305=) NC_000019.10:603825:C:T Identity +NM_013436.5:c.2781C>G NP_038464.1:p.Val927= NC_000002.12:182934829:G:C p.(Val927=) NC_000002.12:182934829:G:C p.(Val927=) NC_000002.12:182934829:G:C Identity +NM_001080495.3:c.7269C>A NP_001073964.2:p.Ala2423= NC_000007.14:5313621:G:T p.(Ala2423=) NC_000007.14:5313621:G:T p.(Ala2423=) NC_000007.14:5313621:G:T Identity +NM_001354689.3:c.864G>A NP_001341618.1:p.Ala288= NC_000003.12:12603507:C:T p.(Ala288=) NC_000003.12:12603507:C:T p.(Ala288=) NC_000003.12:12603507:C:T Identity +NM_001365953.1:c.2268G>A NP_001352882.1:p.Arg756= NC_000001.11:10303452:G:A p.(Arg756=) NC_000001.11:10303452:G:A p.(Arg756=) NC_000001.11:10303452:G:A Identity +NM_001384125.1:c.2712T>A NP_001371054.1:p.Pro904= NC_000004.12:122224595:T:A p.(Pro904=) NC_000004.12:122224595:T:A p.(Pro904=) NC_000004.12:122224595:T:A Identity +NM_002816.5:c.84A>T NP_002807.1:p.Leu28= NC_000017.11:67366435:T:A p.(Leu28=) NC_000017.11:67366435:T:A p.(Leu28=) NC_000017.11:67366435:T:A Identity +NM_001018088.3:c.10446C>T NP_001018098.1:p.Thr3482= NC_000015.10:61873377:G:A p.(Thr3482=) NC_000015.10:61873377:G:A p.(Thr3482=) NC_000015.10:61873377:G:A Identity +NM_001300900.2:c.174G>C NP_001287829.1:p.Val58= NC_000016.10:1772945:C:G p.(Val58=) NC_000016.10:1772945:C:G p.(Val58=) NC_000016.10:1772945:C:G Identity +NM_001394372.1:c.360C>T NP_001381301.1:p.Ala120= NC_000019.10:47679529:C:T p.(Ala120=) NC_000019.10:47679529:C:T p.(Ala120=) NC_000019.10:47679529:C:T Identity +NM_001018088.3:c.7128A>G NP_001018098.1:p.Gln2376= NC_000015.10:61920581:T:C p.(Gln2376=) NC_000015.10:61920581:T:C p.(Gln2376=) NC_000015.10:61920581:T:C Identity +NM_004557.4:c.522A>G NP_004548.3:p.Thr174= NC_000006.12:32221254:T:C p.(Thr174=) NC_000006.12:32221254:T:C p.(Thr174=) NC_000006.12:32221254:T:C Identity +NM_001346505.2:c.1677G>A NP_001333434.1:p.Thr559= NC_000006.12:148533847:G:A p.(Thr559=) NC_000006.12:148533847:G:A p.(Thr559=) NC_000006.12:148533847:G:A Identity +NM_001043.3:c.1287G>A NP_001034.1:p.Thr429= NC_000016.10:55697922:G:A p.(Thr429=) NC_000016.10:55697922:G:A p.(Thr429=) NC_000016.10:55697922:G:A Identity +NM_014709.4:c.6711A>G NP_055524.3:p.Lys2237= NC_000002.12:61241625:T:C p.(Lys2237=) NC_000002.12:61241625:T:C p.(Lys2237=) NC_000002.12:61241625:T:C Identity +NM_001256850.1:c.5106A>G NP_001243779.1:p.Lys1702= NC_000002.12:178776757:T:C p.(Lys1702=) NC_000002.12:178776757:T:C p.(Lys1702=) NC_000002.12:178776757:T:C Identity +NM_001256850.1:c.26286C>T NP_001243779.1:p.Phe8762= NC_000002.12:178712787:G:A p.(Phe8762=) NC_000002.12:178712787:G:A p.(Phe8762=) NC_000002.12:178712787:G:A Identity +NM_145059.3:c.1428T>C NP_659496.2:p.Pro476= NC_000016.10:70473003:T:C p.(Pro476=) NC_000016.10:70473003:T:C p.(Pro476=) NC_000016.10:70473003:T:C Identity +NM_001257199.2:c.948C>T NP_001244128.1:p.Ile316= NC_000012.12:50109485:C:T p.(Ile316=) NC_000012.12:50109485:C:T p.(Ile316=) NC_000012.12:50109485:C:T Identity +NM_001122757.3:c.153T>A NP_001116229.1:p.Ile51= NC_000003.12:87273485:A:T p.(Ile51=) NC_000003.12:87273485:A:T p.(Ile51=) NC_000003.12:87273485:A:T Identity +NM_001318245.2:c.3798G>A NP_001305174.1:p.Gly1266= NC_000022.11:25851488:G:A p.(Gly1266=) NC_000022.11:25851488:G:A p.(Gly1266=) NC_000022.11:25851488:G:A Identity +NM_001177676.2:c.549C>T NP_001171147.1:p.Arg183= NC_000014.9:91234501:G:A p.(Arg183=) NC_000014.9:91234501:G:A p.(Arg183=) NC_000014.9:91234501:G:A Identity +NM_001291088.2:c.3420G>A NP_001278017.1:p.Lys1140= NC_000019.10:37890250:C:T p.(Lys1140=) NC_000019.10:37890250:C:T p.(Lys1140=) NC_000019.10:37890250:C:T Identity +NM_001135659.3:c.2907T>A NP_001129131.1:p.Leu969= NC_000002.12:50497424:A:T p.(Leu969=) NC_000002.12:50497424:A:T p.(Leu969=) NC_000002.12:50497424:A:T Identity +NM_020928.2:c.3411C>A NP_065979.1:p.Pro1137= NC_000005.10:61544079:C:A p.(Pro1137=) NC_000005.10:61544079:C:A p.(Pro1137=) NC_000005.10:61544079:C:A Identity +NM_002293.4:c.894C>T NP_002284.3:p.Asn298= NC_000001.11:183110526:C:T p.(Asn298=) NC_000001.11:183110526:C:T p.(Asn298=) NC_000001.11:183110526:C:T Identity +NM_004625.4:c.459T>C NP_004616.2:p.Ser153= NC_000003.12:13854642:A:G p.(Ser153=) NC_000003.12:13854642:A:G p.(Ser153=) NC_000003.12:13854642:A:G Identity +NM_033036.3:c.1065G>A NP_149025.1:p.Pro355= NC_000011.10:66042737:C:T p.(Pro355=) NC_000011.10:66042737:C:T p.(Pro355=) NC_000011.10:66042737:C:T Identity +NM_001282531.3:c.801C>G NP_001269460.1:p.Pro267= NC_000020.11:50893912:G:C p.(Pro267=) NC_000020.11:50893912:G:C p.(Pro267=) NC_000020.11:50893912:G:C Identity +NM_005560.6:c.573C>T NP_005551.3:p.Ser191= NC_000020.11:62352355:G:A p.(Ser191=) NC_000020.11:62352355:G:A p.(Ser191=) NC_000020.11:62352355:G:A Identity +NM_001174069.2:c.1050T>C NP_001167540.1:p.Asp350= NC_000001.11:165203978:A:G p.(Asp350=) NC_000001.11:165203978:A:G p.(Asp350=) NC_000001.11:165203978:A:G Identity +NM_001278312.2:c.3696A>G NP_001265241.1:p.Leu1232= NC_000005.10:37294370:T:C p.(Leu1232=) NC_000005.10:37294370:T:C p.(Leu1232=) NC_000005.10:37294370:T:C Identity +NM_001134673.4:c.1083G>A NP_001128145.1:p.Pro361= NC_000001.11:61404110:G:A p.(Pro361=) NC_000001.11:61404110:G:A p.(Pro361=) NC_000001.11:61404110:G:A Identity +NM_000109.4:c.2139G>A NP_000100.3:p.Arg713= NC_000023.11:32545163:C:T p.(Arg713=) NC_000023.11:32545163:C:T p.(Arg713=) NC_000023.11:32545163:C:T Identity +NM_001145026.2:c.1560del NP_001138498.1:p.Gln519_Tyr520insTer NC_000012.12:80494951:T: p.(Tyr520Ter) NC_000012.12:80494951:T: p.(Tyr520Ter) NC_000012.12:80494951:T: Analogous +NM_001278632.1:c.99G>T NP_001265561.1:p.Thr33= NC_000005.10:1882005:C:A p.(Thr33=) NC_000005.10:1882005:C:A p.(Thr33=) NC_000005.10:1882005:C:A Identity +NM_001345887.2:c.1284T>G NP_001332816.1:p.Val428= NC_000010.11:99330670:T:G p.(Val428=) NC_000010.11:99330670:T:G p.(Val428=) NC_000010.11:99330670:T:G Identity +NM_001136540.2:c.318T>C NP_001130012.1:p.Asn106= NC_000022.11:36265153:T:C p.(Asn106=) NC_000022.11:36265153:T:C p.(Asn106=) NC_000022.11:36265153:T:C Identity +NM_001035.3:c.6138A>G NP_001026.2:p.Lys2046= NC_000001.11:237625775:A:G p.(Lys2046=) NC_000001.11:237625775:A:G p.(Lys2046=) NC_000001.11:237625775:A:G Identity +NM_002223.4:c.765A>G NP_002214.2:p.Glu255= NC_000012.12:26715388:T:C p.(Glu255=) NC_000012.12:26715388:T:C p.(Glu255=) NC_000012.12:26715388:T:C Identity +NM_000075.4:c.639C>A NP_000066.1:p.Leu213= NC_000012.12:57749497:G:T p.(Leu213=) NC_000012.12:57749497:G:T p.(Leu213=) NC_000012.12:57749497:G:T Identity +NM_006420.3:c.5238C>T NP_006411.2:p.Asp1746= NC_000020.11:49033078:C:T p.(Asp1746=) NC_000020.11:49033078:C:T p.(Asp1746=) NC_000020.11:49033078:C:T Identity +NM_020795.4:c.2457C>T NP_065846.1:p.Ala819= NC_000017.11:7417747:C:T p.(Ala819=) NC_000017.11:7417747:C:T p.(Ala819=) NC_000017.11:7417747:C:T Identity +NM_001372044.2:c.4581C>T NP_001358973.1:p.Ala1527= NC_000022.11:50722188:C:T p.(Tyr1527=) NC_000022.11:50722227:C:T p.(Tyr1527=) NC_000022.11:50722227:C:T Analogous +NM_030665.4:c.4891_4908dup NP_109590.3:p.Ala1631_Ser1636dup NC_000017.11:17797838:GCCTCCTCTTCCTCATCC:GCCTCCTCTTCCTCATCCGCCTCCTCTTCCTCATCC p.(Ala1631_Ser1636dup) NC_000017.11:17797838:GCCTCCTCTTCCTCATCC:GCCTCCTCTTCCTCATCCGCCTCCTCTTCCTCATCC p.(Ala1631_Ser1636dup) ERR:SPDI Identity +NM_007248.5:c.437_439dup NP_009179.2:p.Ile146_Thr147insIle NC_000003.12:48467119:CATCA:CATCATCA p.(Ile146dup) NC_000003.12:48467119:CATCA:CATCATCA p.(Ile146dup) ERR:SPDI Analogous +NM_003482.4:c.11550C>T NP_003473.3:p.His3850= NC_000012.12:49033154:G:A p.(His3850=) NC_000012.12:49033154:G:A p.(His3850=) NC_000012.12:49033154:G:A Identity +NM_001206389.2:c.196C>T NP_001193318.1:p.Leu66= NC_000010.11:101770555:G:A p.(Leu66=) NC_000010.11:101770555:G:A p.(Leu66=) NC_000010.11:101770555:G:A Identity +NM_001077186.2:c.552C>T NP_001070654.1:p.Ser184= NC_000019.10:50217760:C:T p.(Ser184=) NC_000019.10:50217760:C:T p.(Ser184=) NC_000019.10:50217760:C:T Identity +NM_001197181.2:c.597C>T NP_001184110.1:p.Ala199= NC_000016.10:89935263:C:T p.(Ala199=) NC_000016.10:89935263:C:T p.(Ala199=) NC_000016.10:89935263:C:T Identity +NM_001190992.2:c.849A>G NP_001177921.1:p.Glu283= NC_000003.12:155842545:T:C p.(Glu283=) NC_000003.12:155842545:T:C p.(Glu283=) NC_000003.12:155842545:T:C Identity +NM_001035.3:c.4275G>A NP_001026.2:p.Thr1425= NC_000001.11:237591852:G:A p.(Thr1425=) NC_000001.11:237591852:G:A p.(Thr1425=) NC_000001.11:237591852:G:A Identity +NM_021116.4:c.3282C>T NP_066939.1:p.Gly1094= NC_000007.14:45713916:C:T p.(Gly1094=) NC_000007.14:45713916:C:T p.(Gly1094=) NC_000007.14:45713916:C:T Identity +NM_001005373.4:c.339G>A NP_001005373.1:p.Arg113= NC_000009.12:127461189:G:A p.(Arg113=) NC_000009.12:127461189:G:A p.(Arg113=) NC_000009.12:127461189:G:A Identity +NM_001174136.2:c.300G>T NP_001167607.1:p.Gly100= NC_000003.12:46579959:G:T p.(Gly100=) NC_000003.12:46579959:G:T p.(Gly100=) NC_000003.12:46579959:G:T Identity +NM_002160.4:c.3909G>A NP_002151.2:p.Thr1303= NC_000009.12:115063040:C:T p.(Thr1303=) NC_000009.12:115063040:C:T p.(Thr1303=) NC_000009.12:115063040:C:T Identity +NM_001366110.1:c.69T>C NP_001353039.1:p.Pro23= NC_000007.14:127615475:A:G p.(Pro23=) NC_000007.14:127615475:A:G p.(Pro23=) NC_000007.14:127615475:A:G Identity +NM_014865.4:c.3483C>T NP_055680.3:p.Asn1161= NC_000012.12:6528949:C:T p.(Asn1161=) NC_000012.12:6528949:C:T p.(Asn1161=) NC_000012.12:6528949:C:T Identity +NM_001031741.5:c.846C>T NP_001026911.1:p.His282= NC_000003.12:27162560:G:A p.(His282=) NC_000003.12:27162560:G:A p.(His282=) NC_000003.12:27162560:G:A Identity +NM_001365360.2:c.897C>G NP_001352289.1:p.Ala299= NC_000016.10:28844042:G:C p.(Ala299=) NC_000016.10:28844042:G:C p.(Ala299=) NC_000016.10:28844042:G:C Identity +NM_001025242.2:c.792C>A NP_001020413.1:p.Ser264= NC_000023.11:154018292:G:T p.(Ser264=) NC_000023.11:154018292:G:T p.(Ser264=) NC_000023.11:154018292:G:T Identity +NM_001012994.2:c.885T>C NP_001013012.1:p.Ala295= NC_000009.12:112838567:T:C p.(Ala295=) NC_000009.12:112838567:T:C p.(Ala295=) NC_000009.12:112838567:T:C Identity +NM_018706.7:c.387G>A NP_061176.4:p.Gln129= NC_000010.11:12084615:G:A p.(Gln129=) NC_000010.11:12084615:G:A p.(Gln129=) NC_000010.11:12084615:G:A Identity +NM_000037.4:c.5598G>A NP_000028.3:p.Gly1866= NC_000008.11:41661510:C:T p.(Gly1866=) NC_000008.11:41661510:C:T p.(Gly1866=) NC_000008.11:41661510:C:T Identity +NM_005251.3:c.889GTG[3] NP_005242.1:p.Val298dup NC_000016.10:86568221:TGGTGGTG:TGGTGGTGGTG p.(Val298dup) NC_000016.10:86568223:G:GTGGTGGTG ERR:Parse ERR:Parse Identity +NM_001371097.1:c.264A>C NP_001358026.1:p.Gly88= NC_000012.12:20858475:A:C p.(Gly88=) NC_000012.12:20858475:A:C p.(Gly88=) NC_000012.12:20858475:A:C Identity +NM_001288629.2:c.2061G>A NP_001275558.1:p.Pro687= NC_000006.12:93258132:C:T p.(Pro687=) NC_000006.12:93258132:C:T p.(Pro687=) NC_000006.12:93258132:C:T Identity +NM_001113378.2:c.2879_2884dup NP_001106849.1:p.Gln961_Phe962insTrpGln NC_000015.10:89300374:GGCAAT:GGCAATGGCAAT p.(Gln961_Phe962insTrpGln) NC_000015.10:89300374:GGCAAT:GGCAATGGCAAT p.(Gln961_Phe962insTrpGln) ERR:SPDI Identity +NM_000546.6:c.288T>C NP_000537.3:p.Ser96= NC_000017.11:7676080:A:G p.(Ser96=) NC_000017.11:7676080:A:G p.(Ser96=) NC_000017.11:7676080:A:G Identity +NM_000038.6:c.1920G>A NP_000029.2:p.Arg640= NC_000005.10:112835126:G:A p.(Arg640=) NC_000005.10:112835126:G:A p.(Arg640=) NC_000005.10:112835126:G:A Identity +NM_001130916.3:c.297T>C NP_001124388.1:p.Tyr99= NC_000009.12:99129053:T:C p.(Tyr99=) NC_000009.12:99129053:T:C p.(Tyr99=) NC_000009.12:99129053:T:C Identity +NM_000038.6:c.8508G>A NP_000029.2:p.Gly2836= NC_000005.10:112844101:G:A p.(Gly2836=) NC_000005.10:112844101:G:A p.(Gly2836=) NC_000005.10:112844101:G:A Identity +NM_173495.3:c.16C>T NP_775766.2:p.Leu6= NC_000023.11:23334890:C:T p.(Leu6=) NC_000023.11:23334890:C:T p.(Leu6=) NC_000023.11:23334890:C:T Identity +NM_001204403.2:c.411A>G NP_001191332.1:p.Pro137= NC_000010.11:60270214:T:C p.(Pro137=) NC_000010.11:60270214:T:C p.(Pro137=) NC_000010.11:60270214:T:C Identity +NM_001365276.2:c.7812C>T NP_001352205.1:p.Ala2604= NC_000006.12:32058070:G:A p.(Ala2604=) NC_000006.12:32058070:G:A p.(Ala2604=) NC_000006.12:32058070:G:A Identity +NM_001363725.2:c.1587A>G NP_001350654.1:p.Pro529= NC_000006.12:157190064:A:G p.(Pro529=) NC_000006.12:157190064:A:G p.(Pro529=) NC_000006.12:157190064:A:G Identity +NM_173636.5:c.423T>C NP_775907.4:p.Asp141= NC_000019.10:36066288:T:C p.(Asp141=) NC_000019.10:36066288:T:C p.(Asp141=) NC_000019.10:36066288:T:C Identity +NM_001166660.2:c.2046C>T NP_001160132.1:p.Asn682= NC_000023.11:71169715:C:T p.(Asn682=) NC_000023.11:71169715:C:T p.(Asn682=) NC_000023.11:71169715:C:T Identity +NM_002291.3:c.3834C>T NP_002282.2:p.Ser1278= NC_000007.14:107937204:G:A p.(Ser1278=) NC_000007.14:107937204:G:A p.(Ser1278=) NC_000007.14:107937204:G:A Identity +NM_002291.3:c.2682C>T NP_002282.2:p.Asn894= NC_000007.14:107959256:G:A p.(Asn894=) NC_000007.14:107959256:G:A p.(Asn894=) NC_000007.14:107959256:G:A Identity +NM_001285829.2:c.222C>T NP_001272758.1:p.His74= NC_000019.10:33301835:G:A p.(His74=) NC_000019.10:33301835:G:A p.(His74=) NC_000019.10:33301835:G:A Identity +NM_000057.4:c.540A>C NP_000048.1:p.Val180= NC_000015.10:90749807:A:C p.(Val180=) NC_000015.10:90749807:A:C p.(Val180=) NC_000015.10:90749807:A:C Identity +NM_000251.3:c.2046T>A NP_000242.1:p.Thr682= NC_000002.12:47476406:T:A p.(Thr682=) NC_000002.12:47476406:T:A p.(Thr682=) NC_000002.12:47476406:T:A Identity +NM_173495.3:c.1080T>G NP_775766.2:p.Val360= NC_000023.11:23392597:T:G p.(Val360=) NC_000023.11:23392597:T:G p.(Val360=) NC_000023.11:23392597:T:G Identity +NM_001267722.2:c.786C>T NP_001254651.1:p.Cys262= NC_000004.12:56484746:C:T p.(Cys262=) NC_000004.12:56484746:C:T p.(Cys262=) NC_000004.12:56484746:C:T Identity +NM_001319124.2:c.267G>A NP_001306053.1:p.Glu89= NC_000019.10:21167610:G:A p.(Glu89=) NC_000019.10:21167610:G:A p.(Glu89=) NC_000019.10:21167610:G:A Identity +NM_000548.5:c.2417_2419dup NP_000539.2:p.Val806dup NC_000016.10:2074259:GTGG:GTGGTGG p.(Val806dup) NC_000016.10:2074259:GTGG:GTGGTGG p.(Val806dup) ERR:SPDI Identity +NM_001844.5:c.3507C>T NP_001835.3:p.Val1169= NC_000012.12:47976052:G:A p.(Val1169=) NC_000012.12:47976052:G:A p.(Val1169=) NC_000012.12:47976052:G:A Identity +NM_001161560.3:c.744C>T NP_001155032.1:p.Asn248= NC_000003.12:171175280:G:A p.(Asn248=) NC_000003.12:171175280:G:A p.(Asn248=) NC_000003.12:171175280:G:A Identity +NM_001285829.2:c.574CAG[3] NP_001272758.1:p.Gln193_Lys194insGln NC_000019.10:33301478:CTGCTGC:CTGCTGCTGC p.(Gln193dup) NC_000019.10:33301483:G:CTGCTGCTG ERR:Parse ERR:Parse Analogous +NM_015346.4:c.4203C>T NP_056161.2:p.Leu1401= NC_000014.9:67782948:G:A p.(Leu1401=) NC_000014.9:67782948:G:A p.(Leu1401=) NC_000014.9:67782948:G:A Identity +NM_001164232.2:c.381C>T NP_001157704.1:p.Pro127= NC_000008.11:38234553:C:T p.(Pro127=) NC_000008.11:38234553:C:T p.(Pro127=) NC_000008.11:38234553:C:T Identity +NM_001376472.1:c.489T>C NP_001363401.1:p.Ala163= NC_000022.11:50077436:A:G p.(Ala163=) NC_000022.11:50077436:A:G p.(Ala163=) NC_000022.11:50077436:A:G Identity +NM_001101.5:c.663G>A NP_001092.1:p.Leu221= NC_000007.14:5528419:C:T p.(Leu221=) NC_000007.14:5528419:C:T p.(Leu221=) NC_000007.14:5528419:C:T Identity +NM_006785.4:c.1985_1987del NP_006776.1:p.Asp662_Leu663delinsVal NC_000018.10:58745738:ATC: p.(Asp662_Leu663delinsVal) NC_000018.10:58745738:ATC: p.(Asp662_Leu663delinsVal) NC_000018.10:58745738:ATC: Identity +NM_001039141.3:c.3243A>G NP_001034230.1:p.Gln1081= NC_000022.11:37725798:A:G p.(Gln1081=) NC_000022.11:37725798:A:G p.(Gln1081=) NC_000022.11:37725798:A:G Identity +NM_080911.3:c.47_73del NP_550433.1:p.Ala16_Pro24del NC_000012.12:109097713:CCCCCAGCCCCGCCAGGAAGCGACACGCCCCCAGCCCCG:CCCCCAGCCCCG p.(Ala16_Pro24del) NC_000012.12:109097713:CCCCCAGCCCCGCCAGGAAGCGACACGCCCCCAGCCCCG:CCCCCAGCCCCG p.(Ala16_Pro24del) NC_000012.12:109097725:CCAGGAAGCGACACGCCCCCAGCCCCG: Identity +NM_000023.4:c.1125G>A NP_000014.1:p.Val375= NC_000017.11:50175397:G:A p.(Val375=) NC_000017.11:50175397:G:A p.(Val375=) NC_000017.11:50175397:G:A Identity +NM_001379500.1:c.927A>G NP_001366429.1:p.Gly309= NC_000021.9:45476478:A:G p.(Gly309=) NC_000021.9:45476478:A:G p.(Gly309=) NC_000021.9:45476478:A:G Identity +NM_001315529.2:c.4821A>G NP_001302458.1:p.Gln1607= NC_000021.9:46411247:A:G p.(Gln1607=) NC_000021.9:46411247:A:G p.(Gln1607=) NC_000021.9:46411247:A:G Identity +NM_000081.4:c.575del NP_000072.2:p.Phe191_Leu192insTer NC_000001.11:235810242:AAAAAA:AAAAA p.(Leu192Ter) NC_000001.11:235810242:AAAAAA:AAAAA p.(Leu192Ter) NC_000001.11:235810242:A: Analogous +NM_001184985.2:c.204_212del NP_001171914.1:p.Ala69_Thr71del NC_000012.12:753767:CGGCCGCGAC:C p.(Ala69_Thr71del) NC_000012.12:753767:CGGCCGCGAC:C p.(Ala69_Thr71del) NC_000012.12:753768:GGCCGCGAC: Identity +NM_014714.4:c.1359G>A NP_055529.2:p.Lys453= NC_000016.10:1584216:C:T p.(Lys453=) NC_000016.10:1584216:C:T p.(Lys453=) NC_000016.10:1584216:C:T Identity +NM_001306090.2:c.2406G>A NP_001293019.1:p.Glu802= NC_000004.12:5802050:G:A p.(Glu802=) NC_000004.12:5802050:G:A p.(Glu802=) NC_000004.12:5802050:G:A Identity +NM_001083961.2:c.4152C>T NP_001077430.1:p.Ser1384= NC_000019.10:36103979:C:T p.(Ser1384=) NC_000019.10:36103979:C:T p.(Ser1384=) NC_000019.10:36103979:C:T Identity +NM_030665.4:c.1530G>A NP_109590.3:p.Ala510= NC_000017.11:17794477:G:A p.(Ala510=) NC_000017.11:17794477:G:A p.(Ala510=) NC_000017.11:17794477:G:A Identity +NM_006343.3:c.1449C>T NP_006334.2:p.His483= NC_000002.12:111994402:C:T p.(His483=) NC_000002.12:111994402:C:T p.(His483=) NC_000002.12:111994402:C:T Identity +NM_001035.3:c.6C>A NP_001026.2:p.Ala2= NC_000001.11:237042526:C:A p.(Ala2=) NC_000001.11:237042526:C:A p.(Ala2=) NC_000001.11:237042526:C:A Identity +NM_001035507.3:c.1875T>C NP_001030584.1:p.Asn625= NC_000002.12:27059189:T:C p.(Asn625=) NC_000002.12:27059189:T:C p.(Asn625=) NC_000002.12:27059189:T:C Identity +NM_000308.4:c.1152G>T NP_000299.3:p.Leu384= NC_000020.11:45897027:G:T p.(Leu384=) NC_000020.11:45897027:G:T p.(Leu384=) NC_000020.11:45897027:G:T Identity +NM_001184.4:c.6789A>G NP_001175.2:p.Gln2263= NC_000003.12:142466431:T:C p.(Gln2263=) NC_000003.12:142466431:T:C p.(Gln2263=) NC_000003.12:142466431:T:C Identity +NM_005159.5:c.712C>T NP_005150.1:p.Leu238= NC_000015.10:34792185:G:A p.(Leu238=) NC_000015.10:34792185:G:A p.(Leu238=) NC_000015.10:34792185:G:A Identity +NM_021076.4:c.336C>A NP_066554.2:p.Ile112= NC_000022.11:29480597:C:A p.(Ile112=) NC_000022.11:29480597:C:A p.(Ile112=) NC_000022.11:29480597:C:A Identity +NM_001083961.2:c.825G>A NP_001077430.1:p.Ser275= NC_000019.10:36067952:G:A p.(Ser275=) NC_000019.10:36067952:G:A p.(Ser275=) NC_000019.10:36067952:G:A Identity +NM_000263.4:c.222C>G NP_000254.2:p.Arg74= NC_000017.11:42536493:C:G p.(Arg74=) NC_000017.11:42536493:C:G p.(Arg74=) NC_000017.11:42536493:C:G Identity +NM_001378120.1:c.4833T>C NP_001365049.1:p.Tyr1611= NC_000002.12:148490464:T:C p.(Tyr1611=) NC_000002.12:148490464:T:C p.(Tyr1611=) NC_000002.12:148490464:T:C Identity +NM_001282902.3:c.2796G>A NP_001269831.1:p.Ser932= NC_000008.11:115418329:C:T p.(Ser932=) NC_000008.11:115418329:C:T p.(Ser932=) NC_000008.11:115418329:C:T Identity +NM_003280.3:c.18G>A NP_003271.1:p.Lys6= NC_000003.12:52453997:C:T p.(Lys6=) NC_000003.12:52453997:C:T p.(Lys6=) NC_000003.12:52453997:C:T Identity +NM_001160227.2:c.6000T>G NP_001153699.1:p.Ser2000= NC_000015.10:44572686:A:C p.(Ser2000=) NC_000015.10:44572686:A:C p.(Ser2000=) NC_000015.10:44572686:A:C Identity +NM_001320923.2:c.2883G>A NP_001307852.1:p.Ser961= NC_000001.11:64838548:C:T p.(Ser961=) NC_000001.11:64838548:C:T p.(Ser961=) NC_000001.11:64838548:C:T Identity +NM_001040167.2:c.987G>A NP_001035257.1:p.Gln329= NC_000007.14:2526408:G:A p.(Gln329=) NC_000007.14:2526408:G:A p.(Gln329=) NC_000007.14:2526408:G:A Identity +NM_000076.2:c.663A>G NP_000067.1:p.Gln221= NC_000011.10:2884826:T:C p.(Gln221=) NC_000011.10:2884826:T:C p.(Gln221=) NC_000011.10:2884826:T:C Identity +NM_001271620.2:c.1728A>G NP_001258549.1:p.Gln576= NC_000016.10:49637243:T:C p.(Gln576=) NC_000016.10:49637243:T:C p.(Gln576=) NC_000016.10:49637243:T:C Identity +NM_004387.4:c.847_849dup NP_004378.1:p.Pro283dup NC_000005.10:173232694:CGGC:CGGCGGC p.(Pro283dup) NC_000005.10:173232694:CGGC:CGGCGGC p.(Pro283dup) ERR:SPDI Identity +NM_014714.4:c.2671del NP_055529.2:p.Gln890_Val891insTer NC_000016.10:1525983:CC:C p.(Val891Ter) NC_000016.10:1525983:CC:C p.(Val891Ter) NC_000016.10:1525983:C: Analogous +NM_000445.5:c.12609C>T NP_000436.2:p.Cys4203= NC_000008.11:143917292:G:A p.(Cys4203=) NC_000008.11:143917292:G:A p.(Cys4203=) NC_000008.11:143917292:G:A Identity +NM_001271620.2:c.3450G>A NP_001258549.1:p.Pro1150= NC_000016.10:49525441:C:T p.(Pro1150=) NC_000016.10:49525441:C:T p.(Pro1150=) NC_000016.10:49525441:C:T Identity +NM_007254.4:c.1338C>G NP_009185.2:p.Arg446= NC_000019.10:49861655:G:C p.(Arg446=) NC_000019.10:49861655:G:C p.(Arg446=) NC_000019.10:49861655:G:C Identity +NM_001242366.3:c.1224G>A NP_001229295.1:p.Pro408= NC_000017.11:28400623:C:T p.(Pro408=) NC_000017.11:28400623:C:T p.(Pro408=) NC_000017.11:28400623:C:T Identity +NM_001271068.2:c.36C>T NP_001257997.1:p.Asp12= NC_000014.9:65102303:G:A p.(Asp12=) NC_000014.9:65102303:G:A p.(Asp12=) NC_000014.9:65102303:G:A Identity +NM_000920.4:c.2157A>G NP_000911.2:p.Ser719= NC_000011.10:66851105:T:C p.(Ser719=) NC_000011.10:66851105:T:C p.(Ser719=) NC_000011.10:66851105:T:C Identity +NM_004656.4:c.606_607delinsTT NP_004647.1:p.Trp202_Thr203delinsCysSer NC_000003.12:52406880:TC:AA p.(Trp202_Thr203delinsCysSer) NC_000003.12:52406880:TC:AA p.(Trp202_Thr203delinsCysSer) NC_000003.12:52406880:TC:AA Identity +NM_001308258.2:c.1743G>A NP_001295187.1:p.Leu581= NC_000003.12:149162278:G:A p.(Leu581=) NC_000003.12:149162278:G:A p.(Leu581=) NC_000003.12:149162278:G:A Identity +NM_000059.4:c.6480A>G NP_000050.3:p.Gln2160= NC_000013.11:32340834:A:G p.(Gln2160=) NC_000013.11:32340834:A:G p.(Gln2160=) NC_000013.11:32340834:A:G Identity +NM_001135597.2:c.483A>G NP_001129069.1:p.Gln161= NC_000002.12:55363952:T:C p.(Gln161=) NC_000002.12:55363952:T:C p.(Gln161=) NC_000002.12:55363952:T:C Identity +NM_001278511.2:c.3093C>T NP_001265440.1:p.Ser1031= NC_000015.10:82659619:G:A p.(Ser1031=) NC_000015.10:82659619:G:A p.(Ser1031=) NC_000015.10:82659619:G:A Identity +NM_001346899.2:c.3174C>T NP_001333828.1:p.Gly1058= NC_000007.14:55205292:C:T p.(Gly1058=) NC_000007.14:55205292:C:T p.(Gly1058=) NC_000007.14:55205292:C:T Identity +NM_001085487.3:c.246G>A NP_001078956.1:p.Pro82= NC_000001.11:58690389:C:T p.(Pro82=) NC_000001.11:58690389:C:T p.(Pro82=) NC_000001.11:58690389:C:T Identity +NM_000321.3:c.787del NP_000312.2:p.Arg262_Ile263insTer NC_000013.11:48362882:A: p.(Ile263Ter) NC_000013.11:48362882:A: p.(Ile263Ter) NC_000013.11:48362882:A: Analogous +NM_003000.3:c.668_679del NP_002991.2:p.Arg223_Phe226del NC_000001.11:17022693:TGAAGTCATCTCTG:TG p.(Arg223_Phe226del) NC_000001.11:17022693:TGAAGTCATCTCTG:TG p.(Arg223_Phe226del) NC_000001.11:17022693:TGAAGTCATCTC: Identity +NM_001365536.1:c.918G>A NP_001352465.1:p.Leu306= NC_000002.12:166294645:C:T p.(Leu306=) NC_000002.12:166294645:C:T p.(Leu306=) NC_000002.12:166294645:C:T Identity +NM_001127487.2:c.1782G>A NP_001120959.1:p.Val594= NC_000007.14:128840938:G:A p.(Val594=) NC_000007.14:128840938:G:A p.(Val594=) NC_000007.14:128840938:G:A Identity +NM_030665.4:c.5325C>T NP_109590.3:p.Gly1775= NC_000017.11:17798272:C:T p.(Gly1775=) NC_000017.11:17798272:C:T p.(Gly1775=) NC_000017.11:17798272:C:T Identity +NM_001282352.2:c.1584C>T NP_001269281.1:p.Cys528= NC_000019.10:8584973:G:A p.(Cys528=) NC_000019.10:8584973:G:A p.(Cys528=) NC_000019.10:8584973:G:A Identity +NM_000109.4:c.8352G>A NP_000100.3:p.Lys2784= NC_000023.11:31507294:C:T p.(Lys2784=) NC_000023.11:31507294:C:T p.(Lys2784=) NC_000023.11:31507294:C:T Identity +NM_000639.3:c.300G>T NP_000630.1:p.Gly100= NC_000001.11:172659500:G:T p.(Gly100=) NC_000001.11:172659500:G:T p.(Gly100=) NC_000001.11:172659500:G:T Identity +NM_133259.4:c.2508C>T NP_573566.2:p.Gly836= NC_000002.12:43934874:G:A p.(Gly836=) NC_000002.12:43934874:G:A p.(Gly836=) NC_000002.12:43934874:G:A Identity +NM_004281.4:c.1125T>C NP_004272.2:p.Pro375= NC_000010.11:119676678:T:C p.(Pro375=) NC_000010.11:119676678:T:C p.(Pro375=) NC_000010.11:119676678:T:C Identity +NM_005027.4:c.126C>T NP_005018.2:p.Gly42= NC_000019.10:18156004:C:T p.(Gly42=) NC_000019.10:18156004:C:T p.(Gly42=) NC_000019.10:18156004:C:T Identity +NM_199292.3:c.183G>A NP_954986.2:p.Arg61= NC_000011.10:2170689:C:T p.(Arg61=) NC_000011.10:2170689:C:T p.(Arg61=) NC_000011.10:2170689:C:T Identity +NM_001190799.2:c.1053C>T NP_001177728.1:p.Gly351= NC_000004.12:127886518:C:T p.(Gly351=) NC_000004.12:127886518:C:T p.(Gly351=) NC_000004.12:127886518:C:T Identity +NM_001010867.4:c.894G>A NP_001010867.1:p.Thr298= NC_000001.11:228175335:G:A p.(Thr298=) NC_000001.11:228175335:G:A p.(Thr298=) NC_000001.11:228175335:G:A Identity +NM_001206696.2:c.636C>T NP_001193625.1:p.Ser212= NC_000001.11:209790633:G:A p.(Ser212=) NC_000001.11:209790633:G:A p.(Ser212=) NC_000001.11:209790633:G:A Identity +NM_014239.4:c.384A>G NP_055054.1:p.Gln128= NC_000014.9:75003649:A:G p.(Gln128=) NC_000014.9:75003649:A:G p.(Gln128=) NC_000014.9:75003649:A:G Identity +NM_001321851.1:c.1269C>T NP_001308780.1:p.Ile423= NC_000014.9:92011027:G:A p.(Ile423=) NC_000014.9:92011027:G:A p.(Ile423=) NC_000014.9:92011027:G:A Identity +NM_001288653.2:c.1794A>G NP_001275582.1:p.Gln598= NC_000017.11:59666239:A:G p.(Gln598=) NC_000017.11:59666239:A:G p.(Gln598=) NC_000017.11:59666239:A:G Identity +NM_001353765.2:c.1011G>A NP_001340694.1:p.Val337= NC_000002.12:29193871:C:T p.(Val337=) NC_000002.12:29193871:C:T p.(Val337=) NC_000002.12:29193871:C:T Identity +NM_001378454.1:c.74_75insGGAGTA NP_001365383.1:p.Glu26_Glu27insTerGlu NC_000002.12:73385941:A:AGGAGTA p.(Glu27Ter) NC_000002.12:73385941:A:GGAGTA p.(Glu27Ter) NC_000002.12:73385942:AA:GGAGTA Analogous +NM_000445.5:c.1530_1531insGTCTGCGTGTACCGTCTGCACGAGCGCCTGGTAGCC NP_000436.2:p.Ala510_Ile511insValCysValTyrArgLeuHisGluArgLeuValAla NC_000008.11:143933080:GGCTACCAGGCGCTCGTGCAGACGGTACAC:GGCTACCAGGCGCTCGTGCAGACGGTACACGCAGACGGCTACCAGGCGCTCGTGCAGACGGTACAC p.(Ala510_Ile511insValCysValTyrArgLeuHisGluArgLeuValAla) NC_000008.11:143933079:T:GGCTACCAGGCGCTCGTGCAGACGGTACACGCAGAC p.(Ala510_Ile511insValCysValTyrArgLeuHisGluArgLeuValAla) NC_000008.11:143933080:TG:GGCTACCAGGCGCTCGTGCAGACGGTACACGCAGAC Identity +NM_000251.3:c.998_999del NP_000242.1:p.Lys332_Cys333insTer NC_000002.12:47416348:GTGT:GT p.(Cys333Ter) NC_000002.12:47416348:GTGT:GT p.(Cys333Ter) NC_000002.12:47416350:GT: Analogous +NM_000540.3:c.1674C>T NP_000531.2:p.Gly558= NC_000019.10:38455633:C:T p.(Gly558=) NC_000019.10:38455633:C:T p.(Gly558=) NC_000019.10:38455633:C:T Identity +NM_000287.4:c.780_782dup NP_000278.3:p.Pro261dup NC_000006.12:42978368:GGT:GGTGGT p.(Pro261dup) NC_000006.12:42978368:GGT:GGTGGT p.(Pro261dup) ERR:SPDI Identity +NM_006767.4:c.1494C>T NP_006758.2:p.Gly498= NC_000022.11:20994147:C:T p.(Gly498=) NC_000022.11:20994147:C:T p.(Gly498=) NC_000022.11:20994147:C:T Identity +NM_000544.3:c.51G>A NP_000535.3:p.Ala17= NC_000006.12:32838182:C:T p.(Ala17=) NT_167244.2:4143048:C:T p.(Ala17=) NC_000006.12:4143048:G:T Identity +NM_001318204.2:c.768C>T NP_001305133.1:p.Cys256= NC_000009.12:91733290:G:A p.(Cys256=) NC_000009.12:91733290:G:A p.(Cys256=) NC_000009.12:91733290:G:A Identity +LRG_1115t1:c.1866C>T LRG_1115p1:p.Ser622= NC_000016.10:16187124:G:A ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found ERR:AlignmentMapper(tx_ac=LRG_1115t1, alt_ac=LRG_1115t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1115t1, alt_ac=LRG_1115t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found +NM_001379200.1:c.570G>A NP_001366129.1:p.Val190= NC_000022.11:19764184:G:A p.(Val190=) NC_000022.11:19764184:G:A p.(Val190=) NC_000022.11:19764184:G:A Identity +NM_000170.3:c.1770A>G NP_000161.2:p.Gly590= NC_000009.12:6587220:T:C p.(Gly590=) NC_000009.12:6587220:T:C p.(Gly590=) NC_000009.12:6587220:T:C Identity +NM_199242.3:c.2299T>C NP_954712.1:p.Leu767= NC_000017.11:75834142:A:G p.(Leu767=) NC_000017.11:75834142:A:G p.(Leu767=) NC_000017.11:75834142:A:G Identity +NM_001372.4:c.9783G>A NP_001363.2:p.Ala3261= NC_000017.11:11854277:G:A p.(Ala3261=) NC_000017.11:11854277:G:A p.(Ala3261=) NC_000017.11:11854277:G:A Identity +NM_014244.5:c.699GGACAGCCT[1] NP_055059.2:p.234DSL[1] NC_000005.10:179207687:AGGCTGTCCAGGCTGTCCAGG:AGGCTGTCCAGG p.(Asp237_Leu239del) NC_000005.10:179207704:C:AGGCTGTCC ERR:Parse ERR:Parse Analogous +NM_001001890.3:c.1038G>A NP_001001890.1:p.Ser346= NC_000021.9:34792458:C:T p.(Ser346=) NC_000021.9:34792458:C:T p.(Ser346=) NC_000021.9:34792458:C:T Identity +NM_002335.4:c.249C>T NP_002326.2:p.Ser83= NC_000011.10:68348003:C:T p.(Ser83=) NC_000011.10:68348003:C:T p.(Ser83=) NC_000011.10:68348003:C:T Identity +NM_018941.4:c.555C>T NP_061764.2:p.Ser185= NC_000008.11:1780260:C:T p.(Ser185=) NC_000008.11:1780260:C:T p.(Ser185=) NC_000008.11:1780260:C:T Identity +NM_001350626.2:c.2607G>A NP_001337555.1:p.Thr869= NC_000007.14:2538107:C:T p.(Thr869=) NC_000007.14:2538107:C:T p.(Thr869=) NC_000007.14:2538107:C:T Identity +NM_001308301.1:c.894G>A NP_001295230.1:p.Pro298= NC_000016.10:46721190:C:T p.(Pro298=) NC_000016.10:46721190:C:T p.(Pro298=) NC_000016.10:46721190:C:T Identity +NM_001127487.2:c.45C>T NP_001120959.1:p.Gly15= NC_000007.14:128830681:C:T p.(Gly15=) NC_000007.14:128830681:C:T p.(Gly15=) NC_000007.14:128830681:C:T Identity +NM_001317163.2:c.4407A>G NP_001304092.1:p.Gln1469= NC_000009.12:120962901:T:C p.(Gln1469=) NC_000009.12:120962901:T:C p.(Gln1469=) NC_000009.12:120962901:T:C Identity +NM_025219.3:c.555A>G NP_079495.1:p.Thr185= NC_000020.11:63931525:A:G p.(Thr185=) NC_000020.11:63931525:A:G p.(Thr185=) NC_000020.11:63931525:A:G Identity +NM_020928.2:c.2076G>A NP_065979.1:p.Val692= NC_000005.10:61531555:G:A p.(Val692=) NC_000005.10:61531555:G:A p.(Val692=) NC_000005.10:61531555:G:A Identity +NM_015512.5:c.11787C>T NP_056327.4:p.His3929= NC_000003.12:52397043:C:T p.(His3929=) NC_000003.12:52397043:C:T p.(His3929=) NC_000003.12:52397043:C:T Identity +NM_001144881.2:c.540C>T NP_001138353.1:p.Gly180= NC_000012.12:42468673:G:A p.(Gly180=) NC_000012.12:42468673:G:A p.(Gly180=) NC_000012.12:42468673:G:A Identity +NM_001382422.1:c.1449C>T NP_001369351.1:p.Gly483= NC_000019.10:45227996:G:A p.(Gly483=) NC_000019.10:45227996:G:A p.(Gly483=) NC_000019.10:45227996:G:A Identity +NM_001142800.2:c.9279T>C NP_001136272.1:p.Gly3093= NC_000006.12:63720751:A:G p.(Gly3093=) NC_000006.12:63720751:A:G p.(Gly3093=) NC_000006.12:63720751:A:G Identity +NM_001354723.2:c.458_463del NP_001341652.1:p.Gly153_Arg154del NC_000003.12:10142878:GGAAGAG:G p.(Gly153_Arg154del) NC_000003.12:10142878:GGAAGAG:G p.(Gly153_Arg154del) NC_000003.12:10142879:GAAGAG: Identity +NM_001257096.2:c.159G>A NP_001244025.1:p.Ser53= NC_000020.11:21705870:G:A p.(Ser53=) NC_000020.11:21705870:G:A p.(Ser53=) NC_000020.11:21705870:G:A Identity +NM_002470.4:c.1518C>T NP_002461.2:p.Gly506= NC_000017.11:10642888:G:A p.(Gly506=) NC_000017.11:10642888:G:A p.(Gly506=) NC_000017.11:10642888:G:A Identity +NM_001134477.3:c.600G>A NP_001127949.1:p.Gln200= NC_000016.10:14604145:C:T p.(Gln200=) NC_000016.10:14604145:C:T p.(Gln200=) NC_000016.10:14604145:C:T Identity +NM_001005862.3:c.3021G>A NP_001005862.1:p.Pro1007= NC_000017.11:39726954:G:A p.(Pro1007=) NC_000017.11:39726954:G:A p.(Pro1007=) NC_000017.11:39726954:G:A Identity +NM_001130009.3:c.2727A>T NP_001123481.3:p.Ter909Cys NC_000002.12:17781938:A:T p.(Ter909CysextTer9) NC_000002.12:17781938:A:T p.(Ter909CysextTer9) NC_000002.12:17781938:A:T Analogous +NM_001379500.1:c.1914G>A NP_001366429.1:p.Pro638= NC_000021.9:45488434:G:A p.(Pro638=) NC_000021.9:45488434:G:A p.(Pro638=) NC_000021.9:45488434:G:A Identity +NM_000478.6:c.381C>T NP_000469.3:p.Thr127= NC_000001.11:21563192:C:T p.(Thr127=) NC_000001.11:21563192:C:T p.(Thr127=) NC_000001.11:21563192:C:T Identity +NM_001378454.1:c.10011C>T NP_001365383.1:p.Tyr3337= NC_000002.12:73550369:C:T p.(Tyr3337=) NC_000002.12:73550369:C:T p.(Tyr3337=) NC_000002.12:73550369:C:T Identity +NM_020778.5:c.2529G>A NP_065829.4:p.Arg843= NC_000015.10:84857266:G:A p.(Arg843=) NC_000015.10:84857266:G:A p.(Arg843=) NC_000015.10:84857266:G:A Identity +NM_001303249.3:c.685T>C NP_001290178.1:p.Leu229= NC_000005.10:110761452:T:C p.(Leu229=) NC_000005.10:110761452:T:C p.(Leu229=) NC_000005.10:110761452:T:C Identity +NM_004813.4:c.189G>A NP_004804.2:p.Gly63= NC_000011.10:45916262:C:T p.(Gly63=) NC_000011.10:45916262:C:T p.(Gly63=) NC_000011.10:45916262:C:T Identity +NM_004260.4:c.1656C>T NP_004251.4:p.Cys552= NC_000008.11:144514489:G:A p.(Cys552=) NC_000008.11:144514489:G:A p.(Cys552=) NC_000008.11:144514489:G:A Identity +NM_001029882.3:c.4491C>T NP_001025053.1:p.Ala1497= NC_000001.11:27547624:G:A p.(Ala1497=) NC_000001.11:27547624:G:A p.(Ala1497=) NC_000001.11:27547624:G:A Identity +NM_001256959.2:c.1113G>A NP_001243888.2:p.Ser371= NC_000001.11:11829252:G:A p.(Ser371=) NC_000001.11:11829252:G:A p.(Ser371=) NC_000001.11:11829252:G:A Identity +NM_001288607.2:c.2595C>T NP_001275536.1:p.Ser865= NC_000001.11:150559113:C:T p.(Ser865=) NC_000001.11:150559113:C:T p.(Ser865=) NC_000001.11:150559113:C:T Identity +NM_001166136.2:c.3000G>A NP_001159608.1:p.Lys1000= NC_000004.12:5576271:C:T p.(Lys1000=) NC_000004.12:5576271:C:T p.(Lys1000=) NC_000004.12:5576271:C:T Identity +NM_005373.3:c.1305del NP_005364.1:p.Asp434_Trp435insTer NC_000001.11:43346929:GG:G p.(Trp435Ter) NC_000001.11:43346929:GG:G p.(Trp435Ter) NC_000001.11:43346930:G: Analogous +NM_001005242.3:c.213C>G NP_001005242.2:p.Ser71= NC_000012.12:32896518:G:C p.(Ser71=) NC_000012.12:32896518:G:C p.(Ser71=) NC_000012.12:32896518:G:C Identity +NM_001306090.2:c.2634_2635delinsTT NP_001293019.1:p.Gln878_Gln879delinsHisTer NC_000004.12:5808272:GC:TT p.(Gln878_Gln879delinsHisTer) NC_000004.12:5808272:GC:TT p.(Gln878_Gln879delinsHisTer) NC_000004.12:5808272:GC:TT Identity +NM_000252.3:c.885T>C NP_000243.1:p.Tyr295= NC_000023.11:150649732:T:C p.(Tyr295=) NC_000023.11:150649732:T:C p.(Tyr295=) NC_000023.11:150649732:T:C Identity +NM_001304420.3:c.786T>C NP_001291349.1:p.Leu262= NC_000003.12:57860796:T:C p.(Leu262=) NC_000003.12:57860796:T:C p.(Leu262=) NC_000003.12:57860796:T:C Identity +NM_001127487.2:c.4794C>T NP_001120959.1:p.Tyr1598= NC_000007.14:128848848:C:T p.(Tyr1598=) NC_000007.14:128848848:C:T p.(Tyr1598=) NC_000007.14:128848848:C:T Identity +NM_001243564.2:c.102C>T NP_001230493.1:p.Asp34= NC_000001.11:26438205:C:T p.(Asp34=) NC_000001.11:26438205:C:T p.(Asp34=) NC_000001.11:26438205:C:T Identity +NM_000981.4:c.39T>C NP_000972.1:p.Ser13= NC_000017.11:39201245:T:C p.(Ser13=) NC_000017.11:39201245:T:C p.(Ser13=) NC_000017.11:39201245:T:C Identity +NM_001031714.4:c.996C>T NP_001026884.3:p.Cys332= NC_000014.9:104707262:C:T p.(Cys332=) NC_000014.9:104707262:C:T p.(Cys332=) NC_000014.9:104707262:C:T Identity +NM_000232.5:c.540C>T NP_000223.1:p.Phe180= NC_000004.12:52028810:G:A p.(Phe180=) NC_000004.12:52028810:G:A p.(Phe180=) NC_000004.12:52028810:G:A Identity +NM_001195518.2:c.183A>G NP_001182447.1:p.Pro61= NC_000010.11:72563041:T:C p.(Pro61=) NC_000010.11:72563041:T:C p.(Pro61=) NC_000010.11:72563041:T:C Identity +NM_000791.4:c.303T>C NP_000782.1:p.Thr101= NC_000005.10:80637948:A:G p.(Thr101=) NC_000005.10:80637948:A:G p.(Thr101=) NC_000005.10:80637948:A:G Identity +NM_015139.3:c.759C>T NP_055954.1:p.Thr253= NC_000001.11:67021572:G:A p.(Thr253=) NC_000001.11:67021572:G:A p.(Thr253=) NC_000001.11:67021572:G:A Identity +NM_001166111.2:c.3678G>A NP_001159583.1:p.Pro1226= NC_000019.10:7559099:G:A p.(Pro1226=) NC_000019.10:7559099:G:A p.(Pro1226=) NC_000019.10:7559099:G:A Identity +NM_000069.3:c.2145C>T NP_000060.2:p.Pro715= NC_000001.11:201073560:G:A p.(Pro715=) NC_000001.11:201073560:G:A p.(Pro715=) NC_000001.11:201073560:G:A Identity +NM_001278055.2:c.6423A>G NP_001264984.1:p.Pro2141= NC_000013.11:23337011:T:C p.(Pro2141=) NC_000013.11:23337011:T:C p.(Pro2141=) NC_000013.11:23337011:T:C Identity +NM_198525.3:c.2487_2488delinsTT NP_940927.2:p.Gln829_Leu830delinsHisPhe NC_000015.10:89633789:GC:AA p.(Gln829_Leu830delinsHisPhe) NC_000015.10:89633789:GC:AA p.(Gln829_Leu830delinsHisPhe) NC_000015.10:89633789:GC:AA Identity +NM_001104577.2:c.1023G>A NP_001098047.1:p.Gly341= NC_000017.11:5033371:C:T p.(Gly341=) NC_000017.11:5033371:C:T p.(Gly341=) NC_000017.11:5033371:C:T Identity +NM_080473.5:c.78G>A NP_536721.1:p.Pro26= NC_000020.11:62475443:C:T p.(Pro26=) NC_000020.11:62475443:C:T p.(Pro26=) NC_000020.11:62475443:C:T Identity +NM_001321729.2:c.2196A>G NP_001308658.1:p.Gln732= NC_000002.12:72334946:T:C p.(Gln732=) NC_000002.12:72334946:T:C p.(Gln732=) NC_000002.12:72334946:T:C Identity +NM_000089.4:c.1854_1856del NP_000080.2:p.Asp618_Gly619delinsGlu NC_000007.14:94416493:TGG: p.(Asp618_Gly619delinsGlu) NC_000007.14:94416493:TGG: p.(Asp618_Gly619delinsGlu) NC_000007.14:94416493:TGG: Identity +NM_001277269.2:c.6597G>A NP_001264198.1:p.Pro2199= NC_000011.10:17629164:G:A p.(Pro2199=) NC_000011.10:17629164:G:A p.(Pro2199=) NC_000011.10:17629164:G:A Identity +NM_001164277.2:c.497GCA[3] NP_001157749.1:p.Ser167dup NC_000011.10:119027751:TGCTGC:TGCTGCTGC p.(Ser167dup) NC_000011.10:119027756:C:TGCTGCTGC ERR:Parse ERR:Parse Identity +NM_003906.5:c.4302C>T NP_003897.2:p.Gly1434= NC_000021.9:46246874:G:A p.(Gly1434=) NC_000021.9:46246874:G:A p.(Gly1434=) NC_000021.9:46246874:G:A Identity +NM_002546.4:c.309C>T NP_002537.3:p.Arg103= NC_000008.11:118933021:G:A p.(Arg103=) NC_000008.11:118933021:G:A p.(Arg103=) NC_000008.11:118933021:G:A Identity +NM_001710.6:c.507C>T NP_001701.2:p.Gly169= NC_000006.12:31947369:C:T p.(Gly169=) NC_000006.12:31947369:C:T p.(Gly169=) NC_000006.12:31947369:C:T Identity +NM_001853.4:c.666G>A NP_001844.3:p.Pro222= NC_000020.11:62825851:G:A p.(Pro222=) NC_000020.11:62825851:G:A p.(Pro222=) NC_000020.11:62825851:G:A Identity +NM_001377273.1:c.1057_1073dup NP_001364202.1:p.Phe359_Leu360insTerPhe NC_000012.12:21910916:AGAAGAACTGCTAGAAC:AGAAGAACTGCTAGAACAGAAGAACTGCTAGAAC p.(Leu360Ter) NC_000012.12:21910916:AGAAGAACTGCTAGAAC:AGAAGAACTGCTAGAACAGAAGAACTGCTAGAAC p.(Leu360Ter) ERR:SPDI Analogous +NM_001126131.2:c.3720G>A NP_001119603.1:p.Ter1240= NC_000015.10:89316750:C:T p.(Ter1240=) NC_000015.10:89316750:C:T p.(Ter1240Ter) NC_000015.10:89316750:C:T Identity +NM_000382.3:c.1332C>T NP_000373.1:p.Ser444= NC_000017.11:19671844:C:T p.(Ser444=) NC_000017.11:19671844:C:T p.(Ser444=) NC_000017.11:19671844:C:T Identity +NM_001321851.1:c.5157G>A NP_001308780.1:p.Gln1719= NC_000014.9:91993808:C:T p.(Gln1719=) NC_000014.9:91993808:C:T p.(Gln1719=) NC_000014.9:91993808:C:T Identity +NM_000222.3:c.2930G>C NP_000213.1:p.Ter977Ser NC_000004.12:54738555:G:C p.(Ter977SerextTer12) NC_000004.12:54738555:G:C p.(Ter977SerextTer12) NC_000004.12:54738555:G:C Analogous +NM_001256063.2:c.726T>A NP_001242992.1:p.Ala242= NC_000012.12:40933482:T:A p.(Ala242=) NC_000012.12:40933482:T:A p.(Ala242=) NC_000012.12:40933482:T:A Identity +NM_001005407.2:c.417T>C NP_001005407.1:p.Phe139= NC_000016.10:1195436:T:C p.(Phe139=) NC_000016.10:1195436:T:C p.(Phe139=) NC_000016.10:1195436:T:C Identity +NM_000388.4:c.840C>T NP_000379.3:p.Ile280= NC_000003.12:122261874:C:T p.(Ile280=) NC_000003.12:122261874:C:T p.(Ile280=) NC_000003.12:122261874:C:T Identity +NM_001195227.2:c.987C>T NP_001182156.1:p.Gly329= NC_000019.10:49171705:C:T p.(Gly329=) NC_000019.10:49171705:C:T p.(Gly329=) NC_000019.10:49171705:C:T Identity +NM_001378454.1:c.1617A>G NP_001365383.1:p.Gln539= NC_000002.12:73448143:A:G p.(Gln539=) NC_000002.12:73448143:A:G p.(Gln539=) NC_000002.12:73448143:A:G Identity +NM_002439.5:c.2088T>G NP_002430.3:p.Val696= NC_000005.10:80768837:T:G p.(Val696=) NC_000005.10:80768837:T:G p.(Val696=) NC_000005.10:80768837:T:G Identity +NM_003482.4:c.9870C>T NP_003473.3:p.Gly3290= NC_000012.12:49037485:G:A p.(Gly3290=) NC_000012.12:49037485:G:A p.(Gly3290=) NC_000012.12:49037485:G:A Identity +NM_001368062.3:c.1857C>T NP_001354991.2:p.Gly619= NC_000012.12:80257969:C:T p.(Gly619=) NC_000012.12:80257969:C:T p.(Gly619=) NC_000012.12:80257969:C:T Identity +NM_001367624.2:c.7455G>A NP_001354553.1:p.Pro2485= NC_000016.10:88434924:G:A p.(Pro2485=) NC_000016.10:88434924:G:A p.(Pro2485=) NC_000016.10:88434924:G:A Identity +NM_001283106.3:c.588G>A NP_001270035.1:p.Val196= NC_000022.11:20061665:G:A p.(Val196=) NC_000022.11:20061665:G:A p.(Val196=) NC_000022.11:20061665:G:A Identity +NM_001164097.2:c.4098G>A NP_001157569.1:p.Thr1366= NC_000005.10:83540061:G:A p.(Thr1366=) NC_000005.10:83540061:G:A p.(Thr1366=) NC_000005.10:83540061:G:A Identity +NM_001848.3:c.2901C>T NP_001839.2:p.Ile967= NC_000021.9:46003826:C:T p.(Ile967=) NC_000021.9:46003826:C:T p.(Ile967=) NC_000021.9:46003826:C:T Identity +NM_014714.4:c.4146G>A NP_055529.2:p.Leu1382= NC_000016.10:1518251:C:T p.(Leu1382=) NC_000016.10:1518251:C:T p.(Leu1382=) NC_000016.10:1518251:C:T Identity +NM_002715.4:c.513G>A NP_002706.1:p.Ser171= NC_000005.10:134201047:C:T p.(Ser171=) NC_000005.10:134201047:C:T p.(Ser171=) NC_000005.10:134201047:C:T Identity +NM_000234.3:c.2157C>T NP_000225.1:p.Cys719= NC_000019.10:48123008:G:A p.(Cys719=) NC_000019.10:48123008:G:A p.(Cys719=) NC_000019.10:48123008:G:A Identity +NM_001317184.2:c.1950G>A NP_001304113.1:p.Leu650= NC_000016.10:68823594:G:A p.(Leu650=) NC_000016.10:68823594:G:A p.(Leu650=) NC_000016.10:68823594:G:A Identity +NM_001349896.1:c.1605C>T NP_001336825.1:p.Cys535= NC_000022.11:26464024:G:A p.(Cys535=) NC_000022.11:26464024:G:A p.(Cys535=) NC_000022.11:26464024:G:A Identity +NM_001291902.2:c.2775G>A NP_001278831.1:p.Thr925= NC_000011.10:68446464:G:A p.(Thr925=) NC_000011.10:68446464:G:A p.(Thr925=) NC_000011.10:68446464:G:A Identity +NM_006059.4:c.1209_1211del NP_006050.3:p.Cys403_Lys404delinsTrp NC_000009.12:131039173:CAA: p.(Cys403_Lys404delinsTrp) NC_000009.12:131039173:CAA: p.(Cys403_Lys404delinsTrp) NC_000009.12:131039173:CAA: Identity +NM_001347828.2:c.2411_2416del NP_001334757.1:p.Lys804_Leu806delinsIle NC_000004.12:54285382:AAAACC: p.(Lys804_Leu806delinsIle) NC_000004.12:54285382:AAAACC: p.(Lys804_Leu806delinsIle) NC_000004.12:54285382:AAAACC: Identity +NM_000016.6:c.12G>T NP_000007.1:p.Gly4= NC_000001.11:75724798:G:T p.(Gly4=) NC_000001.11:75724798:G:T p.(Gly4=) NC_000001.11:75724798:G:T Identity +NM_001130955.2:c.2754G>A NP_001124427.2:p.Glu918= NC_000019.10:7467683:G:A p.(Glu918=) NC_000019.10:7467683:G:A p.(Glu918=) NC_000019.10:7467683:G:A Identity +NM_032229.3:c.633G>A NP_115605.2:p.Leu211= NC_000013.11:85795875:C:T p.(Leu211=) NC_000013.11:85795875:C:T p.(Leu211=) NC_000013.11:85795875:C:T Identity +NM_001040113.2:c.780G>A NP_001035202.1:p.Thr260= NC_000016.10:15778810:C:T p.(Thr260=) NC_000016.10:15778810:C:T p.(Thr260=) NC_000016.10:15778810:C:T Identity +NM_001077397.1:c.366G>A NP_001070865.1:p.Ala122= NC_000001.11:234609128:C:T p.(Ala122=) NC_000001.11:234609128:C:T p.(Ala122=) NC_000001.11:234609128:C:T Identity +NM_001075098.4:c.699G>A NP_001068566.1:p.Ala233= NC_000006.12:39913374:C:T p.(Ala233=) NC_000006.12:39913374:C:T p.(Ala233=) NC_000006.12:39913374:C:T Identity +NM_001278055.2:c.2013T>C NP_001264984.1:p.Ile671= NC_000013.11:23341421:A:G p.(Ile671=) NC_000013.11:23341421:A:G p.(Ile671=) NC_000013.11:23341421:A:G Identity +NM_001083961.2:c.1530C>T NP_001077430.1:p.Gly510= NC_000019.10:36083220:C:T p.(Gly510=) NC_000019.10:36083220:C:T p.(Gly510=) NC_000019.10:36083220:C:T Identity +NM_001100913.3:c.2271C>T NP_001094383.2:p.Ala757= NC_000014.9:105392633:C:T p.(Ala757=) NC_000014.9:105392633:C:T p.(Ala757=) NC_000014.9:105392633:C:T Identity +NM_000179.3:c.1797A>T NP_000170.1:p.Gly599= NC_000002.12:47799779:A:T p.(Gly599=) NC_000002.12:47799779:A:T p.(Gly599=) NC_000002.12:47799779:A:T Identity +NM_025074.7:c.9705C>A NP_079350.5:p.Pro3235= NC_000004.12:78508930:C:A p.(Pro3235=) NC_000004.12:78508930:C:A p.(Pro3235=) NC_000004.12:78508930:C:A Identity +NM_001363711.2:c.1848T>A NP_001350640.1:p.Ser616= NC_000015.10:45106624:A:T p.(Ser616=) NC_000015.10:45106624:A:T p.(Ser616=) NC_000015.10:45106624:A:T Identity +NM_030665.4:c.1203G>A NP_109590.3:p.Thr401= NC_000017.11:17794150:G:A p.(Thr401=) NC_000017.11:17794150:G:A p.(Thr401=) NC_000017.11:17794150:G:A Identity +NM_001164277.2:c.780_781insTCTTACCTT NP_001157749.1:p.Leu260_Val261insSerTyrLeu NC_000011.10:119026940:AAGG:AAGGTAAGAAAGG p.(Leu260_Val261insSerTyrLeu) NC_000011.10:119026939:C:AAGGTAAGA p.(Leu260_Val261insSerTyrLeu) NC_000011.10:119026940:CA:AAGGTAAGA Identity +NM_001193503.2:c.798G>A NP_001180432.1:p.Ser266= NC_000017.11:4956002:G:A p.(Ser266=) NC_000017.11:4956002:G:A p.(Ser266=) NC_000017.11:4956002:G:A Identity +NM_020884.7:c.3696C>T NP_065935.4:p.Arg1232= NC_000020.11:34997588:C:T p.(Arg1232=) NC_000020.11:34997588:C:T p.(Arg1232=) NC_000020.11:34997588:C:T Identity +NM_001145661.2:c.1242C>T NP_001139133.1:p.Phe414= NC_000003.12:128481219:G:A p.(Phe414=) NC_000003.12:128481219:G:A p.(Phe414=) NC_000003.12:128481219:G:A Identity +NM_001271427.2:c.2259C>T NP_001258356.1:p.Arg753= NC_000001.11:19223509:G:A p.(Arg753=) NC_000001.11:19223509:G:A p.(Arg753=) NC_000001.11:19223509:G:A Identity +NM_000379.4:c.2730G>A NP_000370.2:p.Thr910= NC_000002.12:31350124:C:T p.(Thr910=) NC_000002.12:31350124:C:T p.(Thr910=) NC_000002.12:31350124:C:T Identity +NM_003014.4:c.792G>A NP_003005.2:p.Arg264= NC_000007.14:37909679:C:T p.(Arg264=) NC_000007.14:37909679:C:T p.(Arg264=) NC_000007.14:37909679:C:T Identity +NM_014014.5:c.2199G>A NP_054733.2:p.Lys733= NC_000002.12:96291861:C:T p.(Lys733=) NC_000002.12:96291861:C:T p.(Lys733=) NC_000002.12:96291861:C:T Identity +NM_032043.3:c.2679T>C NP_114432.2:p.Asn893= NC_000017.11:61686061:A:G p.(Asn893=) NC_000017.11:61686061:A:G p.(Asn893=) NC_000017.11:61686061:A:G Identity +NM_001031710.3:c.525A>G NP_001026880.2:p.Glu175= NC_000007.14:23140850:A:G p.(Glu175=) NC_000007.14:23140850:A:G p.(Glu175=) NC_000007.14:23140850:A:G Identity +NM_001244134.1:c.1110G>A NP_001231063.1:p.Glu370= NC_000010.11:30459337:G:A p.(Glu370=) NC_000010.11:30459337:G:A p.(Glu370=) NC_000010.11:30459337:G:A Identity +NM_004656.4:c.690G>C NP_004647.1:p.Leu230= NC_000003.12:52406345:C:G p.(Leu230=) NC_000003.12:52406345:C:G p.(Leu230=) NC_000003.12:52406345:C:G Identity +NM_000260.4:c.1989G>A NP_000251.3:p.Glu663= NC_000011.10:77174808:G:A p.(Glu663=) NC_000011.10:77174808:G:A p.(Glu663=) NC_000011.10:77174808:G:A Identity +NM_006767.4:c.2205G>A NP_006758.2:p.Pro735= NC_000022.11:20996097:G:A p.(Pro735=) NC_000022.11:20996097:G:A p.(Pro735=) NC_000022.11:20996097:G:A Identity +NM_000632.4:c.297C>A NP_000623.2:p.Pro99= NC_000016.10:31265868:C:A p.(Pro99=) NC_000016.10:31265868:C:A p.(Pro99=) NC_000016.10:31265868:C:A Identity +NM_001142805.2:c.960C>T NP_001136277.1:p.Gly320= NC_000023.11:153693309:C:T p.(Gly320=) NC_000023.11:153693309:C:T p.(Gly320=) NC_000023.11:153693309:C:T Identity +NM_000052.7:c.3834A>G NP_000043.4:p.Leu1278= NC_000023.11:78042616:A:G p.(Leu1278=) NC_000023.11:78042616:A:G p.(Leu1278=) NC_000023.11:78042616:A:G Identity +NM_014510.3:c.10323G>A NP_055325.2:p.Val3441= NC_000007.14:82950264:C:T p.(Val3441=) NC_000007.14:82950264:C:T p.(Val3441=) NC_000007.14:82950264:C:T Identity +NM_001006658.3:c.2760C>T NP_001006659.1:p.Asn920= NC_000001.11:207476276:C:T p.(Asn920=) NC_000001.11:207476276:C:T p.(Asn920=) NC_000001.11:207476276:C:T Identity +NM_001365536.1:c.5496T>C NP_001352465.1:p.Ser1832= NC_000002.12:166199142:A:G p.(Ser1832=) NC_000002.12:166199142:A:G p.(Ser1832=) NC_000002.12:166199142:A:G Identity +NM_001303496.3:c.1584A>G NP_001290425.1:p.Leu528= NC_000007.14:93134387:T:C p.(Leu528=) NC_000007.14:93134387:T:C p.(Leu528=) NC_000007.14:93134387:T:C Identity +NM_001276326.2:c.12T>C NP_001263255.1:p.Ser4= NC_000011.10:64591567:T:C p.(Ser4=) NC_000011.10:64591567:T:C p.(Ser4=) NC_000011.10:64591567:T:C Identity +NM_000721.4:c.5226C>T NP_000712.2:p.Asp1742= NC_000001.11:181776186:C:T p.(Asp1742=) NC_000001.11:181776186:C:T p.(Asp1742=) NC_000001.11:181776186:C:T Identity +NM_000426.4:c.855G>A NP_000417.3:p.Gly285= NC_000006.12:129146993:G:A p.(Gly285=) NC_000006.12:129146993:G:A p.(Gly285=) NC_000006.12:129146993:G:A Identity +NM_001145472.3:c.2856C>G NP_001138944.1:p.Thr952= NC_000018.10:46483738:G:C p.(Thr952=) NC_000018.10:46483738:G:C p.(Thr952=) NC_000018.10:46483738:G:C Identity +NM_001252020.2:c.4059G>A NP_001238949.1:p.Thr1353= NC_000015.10:31002691:C:T p.(Thr1353=) NC_000015.10:31002691:C:T p.(Thr1353=) NC_000015.10:31002691:C:T Identity +NM_001363729.2:c.999C>A NP_001350658.1:p.Arg333= NC_000020.11:36916784:G:T p.(Arg333=) NC_000020.11:36916784:G:T p.(Arg333=) NC_000020.11:36916784:G:T Identity +NM_001164507.2:c.228G>A NP_001157979.2:p.Val76= NC_000002.12:151727756:C:T p.(Val76=) NC_000002.12:151727756:C:T p.(Val76=) NC_000002.12:151727756:C:T Identity +NM_001013406.2:c.1284A>G NP_001013424.1:p.Pro428= NC_000007.14:92222036:T:C p.(Pro428=) NC_000007.14:92222036:T:C p.(Pro428=) NC_000007.14:92222036:T:C Identity +NM_001141973.3:c.960G>A NP_001135445.1:p.Gly320= NC_000001.11:17000074:C:T p.(Gly320=) NC_000001.11:17000074:C:T p.(Gly320=) NC_000001.11:17000074:C:T Identity +NM_001288705.3:c.1938C>T NP_001275634.1:p.Ile646= NC_000005.10:150060892:G:A p.(Ile646=) NC_000005.10:150060892:G:A p.(Ile646=) NC_000005.10:150060892:G:A Identity +NM_000428.3:c.4773C>T NP_000419.1:p.Thr1591= NC_000014.9:74503333:G:A p.(Thr1591=) NC_000014.9:74503333:G:A p.(Thr1591=) NC_000014.9:74503333:G:A Identity +NM_001243835.2:c.1368T>C NP_001230764.1:p.Asn456= NC_000002.12:191039264:A:G p.(Asn456=) NC_000002.12:191039264:A:G p.(Asn456=) NC_000002.12:191039264:A:G Identity +NM_002439.5:c.1260C>T NP_002430.3:p.Ser420= NC_000005.10:80679012:C:T p.(Ser420=) NC_000005.10:80679012:C:T p.(Ser420=) NC_000005.10:80679012:C:T Identity +NM_007123.6:c.4248A>C NP_009054.6:p.Ser1416= NC_000001.11:216196555:T:G p.(Ser1416=) NC_000001.11:216196555:T:G p.(Ser1416=) NC_000001.11:216196555:T:G Identity +NM_001271427.2:c.246G>A NP_001258356.1:p.Thr82= NC_000001.11:19243989:C:T p.(Thr82=) NC_000001.11:19243989:C:T p.(Thr82=) NC_000001.11:19243989:C:T Identity +NM_001329903.2:c.810A>G NP_001316832.1:p.Gly270= NC_000017.11:1776554:A:G p.(Gly270=) NC_000017.11:1776554:A:G p.(Gly270=) NC_000017.11:1776554:A:G Identity +NM_032790.4:c.630G>A NP_116179.2:p.Arg210= NC_000012.12:121641366:G:A p.(Arg210=) NW_018654719.1:47137:G:A p.(Arg210=) NC_000012.12:47137:C:A Identity +NM_004281.4:c.1056C>T NP_004272.2:p.Ser352= NC_000010.11:119676609:C:T p.(Ser352=) NC_000010.11:119676609:C:T p.(Ser352=) NC_000010.11:119676609:C:T Identity +NM_001558.4:c.1701C>T NP_001549.2:p.Thr567= NC_000011.10:117999604:C:T p.(Thr567=) NC_000011.10:117999604:C:T p.(Thr567=) NC_000011.10:117999604:C:T Identity +NM_001040167.2:c.225C>A NP_001035257.1:p.Ser75= NC_000007.14:2520085:C:A p.(Ser75=) NC_000007.14:2520085:C:A p.(Ser75=) NC_000007.14:2520085:C:A Identity +NM_000119.3:c.1497C>T NP_000110.2:p.Leu499= NC_000015.10:43206540:G:A p.(Leu499=) NC_000015.10:43206540:G:A p.(Leu499=) NC_000015.10:43206540:G:A Identity +NM_000052.7:c.1779A>G NP_000043.4:p.Leu593= NC_000023.11:78009172:A:G p.(Leu593=) NC_000023.11:78009172:A:G p.(Leu593=) NC_000023.11:78009172:A:G Identity +NM_001190274.2:c.558C>T NP_001177203.1:p.Phe186= NC_000002.12:47838887:G:A p.(Phe186=) NC_000002.12:47838887:G:A p.(Phe186=) NC_000002.12:47838887:G:A Identity +NM_001261406.2:c.3909T>C NP_001248335.1:p.Asn1303= NC_000009.12:13138148:A:G p.(Asn1303=) NC_000009.12:13138148:A:G p.(Asn1303=) NC_000009.12:13138148:A:G Identity +NM_001178075.2:c.111A>G NP_001171546.1:p.Gly37= NC_000007.14:97868982:T:C p.(Gly37=) NC_000007.14:97868982:T:C p.(Gly37=) NC_000007.14:97868982:T:C Identity +NM_001185039.2:c.42C>T NP_001171968.1:p.Asn14= NC_000017.11:75978646:G:A p.(Asn14=) NC_000017.11:75978646:G:A p.(Asn14=) NC_000017.11:75978646:G:A Identity +NM_003482.4:c.7545C>T NP_003473.3:p.Pro2515= NC_000012.12:49040224:G:A p.(Pro2515=) NC_000012.12:49040224:G:A p.(Pro2515=) NC_000012.12:49040224:G:A Identity +NM_001366385.1:c.2514G>A NP_001353314.1:p.Gly838= NC_000017.11:80205149:G:A p.(Gly838=) NC_000017.11:80205149:G:A p.(Gly838=) NC_000017.11:80205149:G:A Identity +NM_001164507.2:c.25188T>G NP_001157979.2:p.Ser8396= NC_000002.12:151490480:A:C p.(Ser8396=) NC_000002.12:151490480:A:C p.(Ser8396=) NC_000002.12:151490480:A:C Identity +NM_001029882.3:c.3432C>T NP_001025053.1:p.Asp1144= NC_000001.11:27548683:G:A p.(Asp1144=) NC_000001.11:27548683:G:A p.(Asp1144=) NC_000001.11:27548683:G:A Identity +NM_001127198.5:c.1021C>T NP_001120670.1:p.Leu341= NC_000017.11:78124049:G:A p.(Leu341=) NC_000017.11:78124049:G:A p.(Leu341=) NC_000017.11:78124049:G:A Identity +NM_001378454.1:c.1440T>C NP_001365383.1:p.Thr480= NC_000002.12:73447966:T:C p.(Thr480=) NC_000002.12:73447966:T:C p.(Thr480=) NC_000002.12:73447966:T:C Identity +NM_000218.3:c.669C>T NP_000209.2:p.Ala223= NC_000011.10:2571388:C:T p.(Ala223=) NC_000011.10:2571388:C:T p.(Ala223=) NC_000011.10:2571388:C:T Identity +NM_017890.5:c.4065A>G NP_060360.3:p.Leu1355= NC_000008.11:99502857:A:G p.(Leu1355=) NC_000008.11:99502857:A:G p.(Leu1355=) NC_000008.11:99502857:A:G Identity +NM_001354259.2:c.2394G>A NP_001341188.1:p.Gly798= NC_000009.12:137790951:G:A p.(Gly798=) NC_000009.12:137790951:G:A p.(Gly798=) NC_000009.12:137790951:G:A Identity +NM_001081640.2:c.7914C>T NP_001075109.1:p.Thr2638= NC_000008.11:47836374:G:A p.(Thr2638=) NC_000008.11:47836374:G:A p.(Thr2638=) NC_000008.11:47836374:G:A Identity +NM_004273.5:c.1380C>T NP_004264.2:p.Ala460= NC_000010.11:72008410:C:T p.(Ala460=) NC_000010.11:72008410:C:T p.(Ala460=) NC_000010.11:72008410:C:T Identity +NM_001258392.3:c.213G>A NP_001245321.1:p.Gly71= NC_000011.10:72434261:C:T p.(Gly71=) NC_000011.10:72434261:C:T p.(Gly71=) NC_000011.10:72434261:C:T Identity +NM_001008844.3:c.498C>T NP_001008844.1:p.Ser166= NC_000006.12:7559300:C:T p.(Ser166=) NC_000006.12:7559300:C:T p.(Ser166=) NC_000006.12:7559300:C:T Identity +NM_002471.4:c.3633C>T NP_002462.2:p.Asn1211= NC_000014.9:23390155:G:A p.(Asn1211=) NC_000014.9:23390155:G:A p.(Asn1211=) NC_000014.9:23390155:G:A Identity +NM_001190818.2:c.1092A>G NP_001177747.1:p.Lys364= NC_000001.11:52389311:T:C p.(Lys364=) NC_000001.11:52389311:T:C p.(Lys364=) NC_000001.11:52389311:T:C Identity +NM_001388492.1:c.1167C>T NP_001375421.1:p.Pro389= NC_000004.12:3121325:C:T p.(Pro389=) NC_000004.12:3121325:C:T p.(Pro389=) NC_000004.12:3121325:C:T Identity +NM_022041.4:c.300T>C NP_071324.1:p.Asp100= NC_000016.10:81354421:T:C p.(Asp100=) NC_000016.10:81354421:T:C p.(Asp100=) NC_000016.10:81354421:T:C Identity +NM_001378454.1:c.7344A>G NP_001365383.1:p.Pro2448= NC_000002.12:73453870:A:G p.(Pro2448=) NC_000002.12:73453870:A:G p.(Pro2448=) NC_000002.12:73453870:A:G Identity +NM_002299.4:c.3552C>A NP_002290.2:p.Ser1184= NC_000002.12:135808794:G:T p.(Ser1184=) NC_000002.12:135808794:G:T p.(Ser1184=) NC_000002.12:135808794:G:T Identity +NM_001301031.1:c.1914G>T NP_001287960.1:p.Val638= NC_000015.10:65638150:G:T p.(Val638=) NC_000015.10:65638150:G:T p.(Val638=) NC_000015.10:65638150:G:T Identity +NM_000086.2:c.990C>G NP_000077.1:p.Val330= NC_000016.10:28482170:G:C p.(Val330=) NC_000016.10:28482170:G:C p.(Val330=) NC_000016.10:28482170:G:C Identity +NM_005560.6:c.2334C>T NP_005551.3:p.Cys778= NC_000020.11:62335258:G:A p.(Cys778=) NC_000020.11:62335258:G:A p.(Cys778=) NC_000020.11:62335258:G:A Identity +NM_001135659.3:c.141C>T NP_001129131.1:p.Asn47= NC_000002.12:51028132:G:A p.(Asn47=) NC_000002.12:51028132:G:A p.(Asn47=) NC_000002.12:51028132:G:A Identity +NM_001015051.4:c.225G>A NP_001015051.3:p.Ala75= NC_000006.12:45422758:G:A p.(Ala75=) NC_000006.12:45422758:G:A p.(Ala75=) NC_000006.12:45422758:G:A Identity +NM_002381.5:c.1380G>A NP_002372.1:p.Ser460= NC_000002.12:19994323:C:T p.(Ser460=) NC_000002.12:19994323:C:T p.(Ser460=) NC_000002.12:19994323:C:T Identity +NM_014244.5:c.1149C>G NP_055059.2:p.Thr383= NC_000005.10:179154902:G:C p.(Thr383=) NC_000005.10:179154902:G:C p.(Thr383=) NC_000005.10:179154902:G:C Identity +NM_198525.3:c.702C>G NP_940927.2:p.Arg234= NC_000015.10:89649194:G:C p.(Arg234=) NC_000015.10:89649194:G:C p.(Arg234=) NC_000015.10:89649194:G:C Identity +NM_014244.5:c.2925C>T NP_055059.2:p.Cys975= NC_000005.10:179125005:G:A p.(Cys975=) NC_000005.10:179125005:G:A p.(Cys975=) NC_000005.10:179125005:G:A Identity +NM_000295.5:c.99G>A NP_000286.3:p.Gln33= NC_000014.9:94383138:C:T p.(Gln33=) NC_000014.9:94383138:C:T p.(Gln33=) NC_000014.9:94383138:C:T Identity +NM_001077525.3:c.915A>G NP_001070993.1:p.Gln305= NC_000003.12:9683194:A:G p.(Gln305=) NC_000003.12:9683194:A:G p.(Gln305=) NC_000003.12:9683194:A:G Identity +NM_001256213.2:c.1023C>T NP_001243142.1:p.Val341= NC_000019.10:41984920:G:A p.(Val341=) NC_000019.10:41984920:G:A p.(Val341=) NC_000019.10:41984920:G:A Identity +NM_014510.3:c.7008C>T NP_055325.2:p.Ser2336= NC_000007.14:82953944:G:A p.(Ser2336=) NC_000007.14:82953944:G:A p.(Ser2336=) NC_000007.14:82953944:G:A Identity +NM_133259.4:c.2379A>G NP_573566.2:p.Leu793= NC_000002.12:43943811:T:C p.(Leu793=) NC_000002.12:43943811:T:C p.(Leu793=) NC_000002.12:43943811:T:C Identity +NM_001372.4:c.1764C>T NP_001363.2:p.His588= NC_000017.11:11636761:C:T p.(His588=) NC_000017.11:11636761:C:T p.(His588=) NC_000017.11:11636761:C:T Identity +NM_000030.3:c.582C>T NP_000021.1:p.Tyr194= NC_000002.12:240873035:C:T p.(Tyr194=) NC_000002.12:240873035:C:T p.(Tyr194=) NC_000002.12:240873035:C:T Identity +NM_001291867.2:c.258A>G NP_001278796.1:p.Gly86= NC_000023.11:17376014:A:G p.(Gly86=) NC_000023.11:17376014:A:G p.(Gly86=) NC_000023.11:17376014:A:G Identity +NM_001146282.2:c.1149A>G NP_001139754.1:p.Lys383= NC_000014.9:35023048:A:G p.(Lys383=) NC_000014.9:35023048:A:G p.(Lys383=) NC_000014.9:35023048:A:G Identity +NM_001142800.2:c.7005C>T NP_001136272.1:p.His2335= NC_000006.12:63984432:G:A p.(His2335=) NC_000006.12:63984432:G:A p.(His2335=) NC_000006.12:63984432:G:A Identity +NM_001315529.2:c.5022C>T NP_001302458.1:p.Leu1674= NC_000021.9:46411448:C:T p.(Leu1674=) NC_000021.9:46411448:C:T p.(Leu1674=) NC_000021.9:46411448:C:T Identity +NM_001308258.2:c.378C>T NP_001295187.1:p.His126= NC_000003.12:149141176:C:T p.(His126=) NC_000003.12:149141176:C:T p.(His126=) NC_000003.12:149141176:C:T Identity +NM_001201401.2:c.1293C>T NP_001188330.1:p.Phe431= NC_000014.9:87947854:G:A p.(Phe431=) NC_000014.9:87947854:G:A p.(Phe431=) NC_000014.9:87947854:G:A Identity +NM_006361.6:c.306G>A NP_006352.2:p.Gln102= NC_000017.11:48728287:C:T p.(Gln102=) NC_000017.11:48728287:C:T p.(Gln102=) NC_000017.11:48728287:C:T Identity +NM_015072.5:c.1851A>G NP_055887.3:p.Lys617= NC_000014.9:75766203:A:G p.(Lys617=) NC_000014.9:75766203:A:G p.(Lys617=) NC_000014.9:75766203:A:G Identity +NM_152384.3:c.966T>G NP_689597.1:p.Leu322= NC_000002.12:169504521:T:G p.(Leu322=) NC_000002.12:169504521:T:G p.(Leu322=) NC_000002.12:169504521:T:G Identity +NM_001068.3:c.1590T>C NP_001059.2:p.Val530= NC_000003.12:25630112:A:G p.(Val530=) NC_000003.12:25630112:A:G p.(Val530=) NC_000003.12:25630112:A:G Identity +NM_138701.4:c.105A>G NP_619646.1:p.Gly35= NC_000007.14:40134462:T:C p.(Gly35=) NC_000007.14:40134462:T:C p.(Gly35=) NC_000007.14:40134462:T:C Identity +NM_001032283.3:c.66C>T NP_001027454.1:p.Ala22= NC_000012.12:98515932:C:T p.(Ala22=) NC_000012.12:98515932:C:T p.(Ala22=) NC_000012.12:98515932:C:T Identity +NM_001304482.2:c.3657C>G NP_001291411.1:p.Arg1219= NC_000003.12:47411928:C:G p.(Arg1219=) NC_000003.12:47411928:C:G p.(Arg1219=) NC_000003.12:47411928:C:G Identity +NM_138694.4:c.8265C>A NP_619639.3:p.Thr2755= NC_000006.12:51830897:G:T p.(Thr2755=) NC_000006.12:51830897:G:T p.(Thr2755=) NC_000006.12:51830897:G:T Identity +NM_001166111.2:c.2553C>A NP_001159583.1:p.Ile851= NC_000019.10:7554611:C:A p.(Ile851=) NC_000019.10:7554611:C:A p.(Ile851=) NC_000019.10:7554611:C:A Identity +NM_001077653.2:c.147G>A NP_001071121.1:p.Ser49= NC_000007.14:35250183:C:T p.(Ser49=) NC_000007.14:35250183:C:T p.(Ser49=) NC_000007.14:35250183:C:T Identity +NM_001160130.2:c.1860G>A NP_001153602.1:p.Gln620= NC_000006.12:73194501:G:A p.(Gln620=) NC_000006.12:73194501:G:A p.(Gln620=) NC_000006.12:73194501:G:A Identity +NM_001142800.2:c.6690C>T NP_001136272.1:p.Ser2230= NC_000006.12:64066372:G:A p.(Ser2230=) NC_000006.12:64066372:G:A p.(Ser2230=) NC_000006.12:64066372:G:A Identity +NM_001306193.2:c.315G>A NP_001293122.1:p.Leu105= NC_000023.11:132094063:C:T p.(Leu105=) NC_000023.11:132094063:C:T p.(Leu105=) NC_000023.11:132094063:C:T Identity +NM_001011554.3:c.1366A>C NP_001011554.1:p.Arg456= NC_000020.11:46563538:T:G p.(Arg456=) NC_000020.11:46563538:T:G p.(Arg456=) NC_000020.11:46563538:T:G Identity +NM_001288721.2:c.441T>C NP_001275650.1:p.His147= NC_000011.10:62617142:A:G p.(His147=) NC_000011.10:62617142:A:G p.(His147=) NC_000011.10:62617142:A:G Identity +NM_001165895.2:c.252C>T NP_001159367.1:p.Asn84= NC_000019.10:8303978:G:A p.(Asn84=) NC_000019.10:8303978:G:A p.(Asn84=) NC_000019.10:8303978:G:A Identity +NM_001077182.3:c.201C>T NP_001070650.1:p.Arg67= NC_000017.11:81528731:C:T p.(Arg67=) NC_000017.11:81528731:C:T p.(Arg67=) NC_000017.11:81528731:C:T Identity +NM_001114101.3:c.582C>T NP_001107573.1:p.Gly194= NC_000001.11:22647626:C:T p.(Gly194=) NC_000001.11:22647626:C:T p.(Gly194=) NC_000001.11:22647626:C:T Identity +NM_012213.3:c.1236C>A NP_036345.2:p.Arg412= NC_000016.10:83915242:C:A p.(Arg412=) NC_000016.10:83915242:C:A p.(Arg412=) NC_000016.10:83915242:C:A Identity +NM_001304482.2:c.2124G>A NP_001291411.1:p.Val708= NC_000003.12:47410299:G:A p.(Val708=) NC_000003.12:47410299:G:A p.(Val708=) NC_000003.12:47410299:G:A Identity +NM_003334.4:c.2053T>C NP_003325.2:p.Leu685= NC_000023.11:47209976:T:C p.(Leu685=) NC_000023.11:47209976:T:C p.(Leu685=) NC_000023.11:47209976:T:C Identity +NM_001141973.3:c.219G>A NP_001135445.1:p.Val73= NC_000001.11:17005442:C:T p.(Val73=) NC_000001.11:17005442:C:T p.(Val73=) NC_000001.11:17005442:C:T Identity +NM_000287.4:c.2154G>A NP_000278.3:p.Leu718= NC_000006.12:42966387:C:T p.(Leu718=) NC_000006.12:42966387:C:T p.(Leu718=) NC_000006.12:42966387:C:T Identity +NM_000521.4:c.471G>A NP_000512.2:p.Val157= NC_000005.10:74693663:G:A p.(Val157=) NC_000005.10:74693663:G:A p.(Val157=) NC_000005.10:74693663:G:A Identity +NM_001363711.2:c.363G>T NP_001350640.1:p.Thr121= NC_000015.10:45111917:C:A p.(Thr121=) NC_000015.10:45111917:C:A p.(Thr121=) NC_000015.10:45111917:C:A Identity +NM_001145770.3:c.741G>A NP_001139242.1:p.Gln247= NC_000016.10:57654105:G:A p.(Gln247=) NC_000016.10:57654105:G:A p.(Gln247=) NC_000016.10:57654105:G:A Identity +NM_000360.4:c.912C>T NP_000351.2:p.Ala304= NC_000011.10:2166697:G:A p.(Ala304=) NC_000011.10:2166697:G:A p.(Ala304=) NC_000011.10:2166697:G:A Identity +NM_001318245.2:c.5406G>A NP_001305174.1:p.Arg1802= NC_000022.11:25921294:G:A p.(Arg1802=) NC_000022.11:25921294:G:A p.(Arg1802=) NC_000022.11:25921294:G:A Identity +NM_001288607.2:c.2733G>A NP_001275536.1:p.Pro911= NC_000001.11:150559372:G:A p.(Pro911=) NC_000001.11:150559372:G:A p.(Pro911=) NC_000001.11:150559372:G:A Identity +NM_020632.3:c.615C>T NP_065683.2:p.Asp205= NC_000007.14:138759775:G:A p.(Asp205=) NC_000007.14:138759775:G:A p.(Asp205=) NC_000007.14:138759775:G:A Identity +NM_000153.4:c.258C>T NP_000144.2:p.Leu86= NC_000014.9:87988460:G:A p.(Leu86=) NC_000014.9:87988460:G:A p.(Leu86=) NC_000014.9:87988460:G:A Identity +NM_000021.4:c.213G>A NP_000012.1:p.Glu71= NC_000014.9:73170921:G:A p.(Glu71=) NC_000014.9:73170921:G:A p.(Glu71=) NC_000014.9:73170921:G:A Identity +NM_003079.5:c.1122C>G NP_003070.3:p.Val374= NC_000017.11:40628898:G:C p.(Val374=) NC_000017.11:40628898:G:C p.(Val374=) NC_000017.11:40628898:G:C Identity +NM_000329.3:c.1584A>G NP_000320.1:p.Gly528= NC_000001.11:68429793:T:C p.(Gly528=) NC_000001.11:68429793:T:C p.(Gly528=) NC_000001.11:68429793:T:C Identity +NM_020693.4:c.4425C>T NP_065744.3:p.His1475= NC_000011.10:117437901:G:A p.(His1475=) NC_000011.10:117437901:G:A p.(His1475=) NC_000011.10:117437901:G:A Identity +NM_000553.6:c.3768A>C NP_000544.2:p.Ser1256= NC_000008.11:31154703:A:C p.(Ser1256=) NC_000008.11:31154703:A:C p.(Ser1256=) NC_000008.11:31154703:A:C Identity +NM_000156.6:c.165C>T NP_000147.1:p.Ala55= NC_000019.10:1401311:G:A p.(Ala55=) NC_000019.10:1401311:G:A p.(Ala55=) NC_000019.10:1401311:G:A Identity +NM_000108.5:c.1116C>A NP_000099.2:p.Ile372= NC_000007.14:107917341:C:A p.(Ile372=) NC_000007.14:107917341:C:A p.(Ile372=) NC_000007.14:107917341:C:A Identity +NM_001370503.1:c.447G>A NP_001357432.1:p.Thr149= NC_000007.14:56015145:C:T p.(Thr149=) NC_000007.14:56015145:C:T p.(Thr149=) NC_000007.14:56015145:C:T Identity +NM_001350626.2:c.627G>T NP_001337555.1:p.Ala209= NC_000007.14:2543765:C:A p.(Ala209=) NC_000007.14:2543765:C:A p.(Ala209=) NC_000007.14:2543765:C:A Identity +NM_001034194.2:c.903C>T NP_001029366.1:p.Ala301= NC_000004.12:121813308:C:T p.(Ala301=) NC_000004.12:121813308:C:T p.(Ala301=) NC_000004.12:121813308:C:T Identity +NM_001166136.2:c.1236T>C NP_001159608.1:p.Ala412= NC_000004.12:5632026:A:G p.(Ala412=) NC_000004.12:5632026:A:G p.(Ala412=) NC_000004.12:5632026:A:G Identity +NM_000287.4:c.819C>G NP_000278.3:p.Val273= NC_000006.12:42978331:G:C p.(Val273=) NC_000006.12:42978331:G:C p.(Val273=) NC_000006.12:42978331:G:C Identity +NM_006739.4:c.2199C>G NP_006730.2:p.Leu733= NC_000022.11:35424248:C:G p.(Leu733=) NC_000022.11:35424248:C:G p.(Leu733=) NC_000022.11:35424248:C:G Identity +NM_001127207.2:c.1857T>A NP_001120679.1:p.Pro619= NC_000002.12:216450850:T:A p.(Pro619=) NC_000002.12:216450850:T:A p.(Pro619=) NC_000002.12:216450850:T:A Identity +NM_002204.4:c.234C>T NP_002195.1:p.Leu78= NC_000017.11:50064103:C:T p.(Leu78=) NC_000017.11:50064103:C:T p.(Leu78=) NC_000017.11:50064103:C:T Identity +NM_001282368.2:c.1107T>G NP_001269297.1:p.Ala369= NC_000006.12:75951044:A:C p.(Ala369=) NC_000006.12:75951044:A:C p.(Ala369=) NC_000006.12:75951044:A:C Identity +NM_013339.4:c.1479T>A NP_037471.2:p.Ile493= NC_000001.11:63436974:T:A p.(Ile493=) NC_000001.11:63436974:T:A p.(Ile493=) NC_000001.11:63436974:T:A Identity +NM_000068.4:c.6324G>A NP_000059.3:p.Arg2108= NC_000019.10:13210649:C:T p.(Arg2108=) NC_000019.10:13210649:C:T p.(Arg2108=) NC_000019.10:13210649:C:T Identity +NM_002894.3:c.1318T>C NP_002885.1:p.Leu440= NC_000018.10:22993144:T:C p.(Leu440=) NC_000018.10:22993144:T:C p.(Leu440=) NC_000018.10:22993144:T:C Identity +NM_005732.4:c.120G>A NP_005723.2:p.Ala40= NC_000005.10:132557443:G:A p.(Ala40=) NC_000005.10:132557443:G:A p.(Ala40=) NC_000005.10:132557443:G:A Identity +NM_000554.6:c.648C>T NP_000545.1:p.Ser216= NC_000019.10:47839714:C:T p.(Ser216=) NC_000019.10:47839714:C:T p.(Ser216=) NC_000019.10:47839714:C:T Identity +NM_000528.4:c.2898C>T NP_000519.2:p.Ser966= NC_000019.10:12647257:G:A p.(Ser966=) NC_000019.10:12647257:G:A p.(Ser966=) NC_000019.10:12647257:G:A Identity +NM_001007792.1:c.2262C>T NP_001007793.1:p.Val754= NC_000001.11:156881620:C:T p.(Val754=) NC_000001.11:156881620:C:T p.(Val754=) NC_000001.11:156881620:C:T Identity +NM_001134670.2:c.90G>A NP_001128142.1:p.Gly30= NC_000010.11:97584792:G:A p.(Gly30=) NC_000010.11:97584792:G:A p.(Gly30=) NC_000010.11:97584792:G:A Identity +NM_001318746.1:c.795T>A NP_001305675.1:p.Val265= NC_000006.12:106572091:A:T p.(Val265=) NC_000006.12:106572091:A:T p.(Val265=) NC_000006.12:106572091:A:T Identity +NM_032737.4:c.222C>T NP_116126.3:p.Leu74= NC_000019.10:2456711:G:A p.(Leu74=) NC_000019.10:2456711:G:A p.(Leu74=) NC_000019.10:2456711:G:A Identity +NM_001304482.2:c.3681C>T NP_001291411.1:p.Pro1227= NC_000003.12:47411952:C:T p.(Pro1227=) NC_000003.12:47411952:C:T p.(Pro1227=) NC_000003.12:47411952:C:T Identity +NM_001363729.2:c.1431A>C NP_001350658.1:p.Pro477= NC_000020.11:36904228:T:G p.(Pro477=) NC_000020.11:36904228:T:G p.(Pro477=) NC_000020.11:36904228:T:G Identity +NM_001164507.2:c.2259T>C NP_001157979.2:p.Thr753= NC_000002.12:151690777:A:G p.(Thr753=) NC_000002.12:151690777:A:G p.(Thr753=) NC_000002.12:151690777:A:G Identity +NM_001364440.2:c.1290T>C NP_001351369.1:p.Ala430= NC_000005.10:7889237:T:C p.(Ala430=) NC_000005.10:7889237:T:C p.(Ala430=) NC_000005.10:7889237:T:C Identity +NM_001282424.3:c.396C>T NP_001269353.2:p.Tyr132= NC_000012.12:8848754:C:T p.(Tyr132=) NC_000012.12:8848754:C:T p.(Tyr132=) NC_000012.12:8848754:C:T Identity +NM_001142805.2:c.90C>T NP_001136277.1:p.Ala30= NC_000023.11:153688663:C:T p.(Ala30=) NC_000023.11:153688663:C:T p.(Ala30=) NC_000023.11:153688663:C:T Identity +NM_001346279.2:c.1125C>T NP_001333208.1:p.Tyr375= NC_000011.10:10763809:C:T p.(Tyr375=) NC_000011.10:10763809:C:T p.(Tyr375=) NC_000011.10:10763809:C:T Identity +NM_005045.4:c.1182T>C NP_005036.2:p.His394= NC_000007.14:103682222:A:G p.(His394=) NC_000007.14:103682222:A:G p.(His394=) NC_000007.14:103682222:A:G Identity +NM_000020.3:c.18C>G NP_000011.2:p.Pro6= NC_000012.12:51912491:C:G p.(Pro6=) NC_000012.12:51912491:C:G p.(Pro6=) NC_000012.12:51912491:C:G Identity +NM_006939.4:c.2916T>C NP_008870.2:p.Tyr972= NC_000014.9:50138653:A:G p.(Tyr972=) NC_000014.9:50138653:A:G p.(Tyr972=) NC_000014.9:50138653:A:G Identity +NM_000090.4:c.1410T>C NP_000081.2:p.Pro470= NC_000002.12:188994785:T:C p.(Pro470=) NC_000002.12:188994785:T:C p.(Pro470=) NC_000002.12:188994785:T:C Identity +NM_000402.4:c.522G>A NP_000393.4:p.Pro174= NC_000023.11:154535220:C:T p.(Pro174=) NC_000023.11:154535220:C:T p.(Pro174=) NC_000023.11:154535220:C:T Identity +NM_001278682.2:c.273C>T NP_001265611.1:p.Asn91= NC_000018.10:3457384:C:T p.(Asn91=) NC_000018.10:3457384:C:T p.(Asn91=) NC_000018.10:3457384:C:T Identity +NM_001323989.1:c.609G>A NP_001310918.1:p.Leu203= NC_000005.10:138924681:G:A p.(Leu203=) NC_000005.10:138924681:G:A p.(Leu203=) NC_000005.10:138924681:G:A Identity +NM_001112808.3:c.1248T>C NP_001106279.3:p.Tyr416= NC_000001.11:74353277:T:C p.(Tyr416=) NC_000001.11:74353277:T:C p.(Tyr416=) NC_000001.11:74353277:T:C Identity +NM_001122606.1:c.204C>T NP_001116078.1:p.Asp68= NC_000023.11:120455549:G:A p.(Asp68=) NC_000023.11:120455549:G:A p.(Asp68=) NC_000023.11:120455549:G:A Identity +NM_001256849.1:c.2947C>T NP_001243778.1:p.Leu983= NC_000019.10:50416521:C:T p.(Leu983=) NC_000019.10:50416521:C:T p.(Leu983=) NC_000019.10:50416521:C:T Identity +NM_005055.5:c.813C>T NP_005046.2:p.Ser271= NC_000011.10:47441709:G:A p.(Ser271=) NC_000011.10:47441709:G:A p.(Ser271=) NC_000011.10:47441709:G:A Identity +NM_000359.3:c.2004T>C NP_000350.1:p.Asn668= NC_000014.9:24254747:A:G p.(Asn668=) NC_000014.9:24254747:A:G p.(Asn668=) NC_000014.9:24254747:A:G Identity +NM_000154.2:c.519C>A NP_000145.1:p.Ala173= NC_000017.11:75763105:G:T p.(Ala173=) NC_000017.11:75763105:G:T p.(Ala173=) NC_000017.11:75763105:G:T Identity +NM_001375644.1:c.81C>T NP_001362573.1:p.Ile27= NC_000004.12:145639219:C:T p.(Ile27=) NC_000004.12:145639219:C:T p.(Ile27=) NC_000004.12:145639219:C:T Identity +NM_000158.4:c.1572A>G NP_000149.4:p.Arg524= NC_000003.12:81577970:T:C p.(Arg524=) NC_000003.12:81577970:T:C p.(Arg524=) NC_000003.12:81577970:T:C Identity +NM_001035.3:c.11778T>G NP_001026.2:p.Gly3926= NC_000001.11:237778667:T:G p.(Gly3926=) NC_000001.11:237778667:T:G p.(Gly3926=) NC_000001.11:237778667:T:G Identity +NM_000481.4:c.699C>A NP_000472.2:p.Ile233= NC_000003.12:49419148:G:T p.(Ile233=) NC_000003.12:49419148:G:T p.(Ile233=) NC_000003.12:49419148:G:T Identity +NM_001065.4:c.771G>A NP_001056.1:p.Gly257= NC_000012.12:6330063:C:T p.(Gly257=) NC_000012.12:6330063:C:T p.(Gly257=) NC_000012.12:6330063:C:T Identity +NM_001206524.2:c.912C>T NP_001193453.1:p.Leu304= NC_000002.12:201209259:C:T p.(Leu304=) NC_000002.12:201209259:C:T p.(Leu304=) NC_000002.12:201209259:C:T Identity +NM_000414.4:c.1866T>G NP_000405.1:p.Leu622= NC_000005.10:119531276:T:G p.(Leu622=) NC_000005.10:119531276:T:G p.(Leu622=) NC_000005.10:119531276:T:G Identity +NM_000088.4:c.108A>G NP_000079.2:p.Pro36= NC_000017.11:50199942:T:C p.(Pro36=) NC_000017.11:50199942:T:C p.(Pro36=) NC_000017.11:50199942:T:C Identity +NM_021076.4:c.787C>T NP_066554.2:p.Leu263= NC_000022.11:29481048:C:T p.(Leu263=) NC_000022.11:29481048:C:T p.(Leu263=) NC_000022.11:29481048:C:T Identity +NM_001318245.2:c.5619G>A NP_001305174.1:p.Thr1873= NC_000022.11:25946234:G:A p.(Thr1873=) NC_000022.11:25946234:G:A p.(Thr1873=) NC_000022.11:25946234:G:A Identity +NM_004260.4:c.3267G>A NP_004251.4:p.Leu1089= NC_000008.11:144512036:C:T p.(Leu1089=) NC_000008.11:144512036:C:T p.(Leu1089=) NC_000008.11:144512036:C:T Identity +NM_001320759.2:c.1293C>G NP_001307688.1:p.Leu431= NC_000017.11:18290575:G:C p.(Leu431=) NC_000017.11:18290575:G:C p.(Leu431=) NC_000017.11:18290575:G:C Identity +NM_001270476.2:c.759C>T NP_001257405.1:p.Phe253= NC_000006.12:43009187:C:T p.(Phe253=) NC_000006.12:43009187:C:T p.(Phe253=) NC_000006.12:43009187:C:T Identity +NM_000833.5:c.3795G>A NP_000824.1:p.Gln1265= NC_000016.10:9763748:C:T p.(Gln1265=) NC_000016.10:9763748:C:T p.(Gln1265=) NC_000016.10:9763748:C:T Identity +NM_021784.5:c.1293C>A NP_068556.2:p.Gly431= NC_000020.11:22581948:G:T p.(Gly431=) NC_000020.11:22581948:G:T p.(Gly431=) NC_000020.11:22581948:G:T Identity +NM_001174098.2:c.717C>T NP_001167569.1:p.Val239= NC_000010.11:71356186:C:T p.(Val239=) NC_000010.11:71356186:C:T p.(Val239=) NC_000010.11:71356186:C:T Identity +NM_001347827.2:c.2220A>G NP_001334756.1:p.Thr740= NC_000004.12:54280378:A:G p.(Thr740=) NC_000004.12:54280378:A:G p.(Thr740=) NC_000004.12:54280378:A:G Identity +NM_001005360.3:c.837G>A NP_001005360.1:p.Lys279= NC_000019.10:10783107:G:A p.(Lys279=) NC_000019.10:10783107:G:A p.(Lys279=) NC_000019.10:10783107:G:A Identity +NM_001256849.1:c.1954C>A NP_001243778.1:p.Arg652= NC_000019.10:50409182:C:A p.(Arg652=) NC_000019.10:50409182:C:A p.(Arg652=) NC_000019.10:50409182:C:A Identity +NM_001289156.2:c.945C>T NP_001276085.1:p.Asp315= NC_000015.10:74897552:C:T p.(Asp315=) NC_000015.10:74897552:C:T p.(Asp315=) NC_000015.10:74897552:C:T Identity +NM_000445.5:c.11748G>A NP_000436.2:p.Arg3916= NC_000008.11:143918153:C:T p.(Arg3916=) NC_000008.11:143918153:C:T p.(Arg3916=) NC_000008.11:143918153:C:T Identity +NM_001172309.2:c.1482G>A NP_001165780.1:p.Glu494= NC_000001.11:77942474:G:A p.(Glu494=) NC_000001.11:77942474:G:A p.(Glu494=) NC_000001.11:77942474:G:A Identity +NM_001261826.3:c.585C>T NP_001248755.1:p.Pro195= NC_000019.10:2130414:G:A p.(Pro195=) NC_000019.10:2130414:G:A p.(Pro195=) NC_000019.10:2130414:G:A Identity +NM_000587.4:c.2268C>G NP_000578.2:p.Thr756= NC_000005.10:40979826:C:G p.(Thr756=) NC_000005.10:40979826:C:G p.(Thr756=) NC_000005.10:40979826:C:G Identity +NM_001351527.2:c.5505A>G NP_001338456.1:p.Glu1835= NC_000009.12:132300672:T:C p.(Glu1835=) NC_000009.12:132300672:T:C p.(Glu1835=) NC_000009.12:132300672:T:C Identity +NM_000268.4:c.96G>A NP_000259.1:p.Glu32= NC_000022.11:29604093:G:A p.(Glu32=) NC_000022.11:29604093:G:A p.(Glu32=) NC_000022.11:29604093:G:A Identity +NM_001164716.1:c.444C>T NP_001158188.1:p.Asn148= NC_000011.10:64755510:G:A p.(Asn148=) NC_000011.10:64755510:G:A p.(Asn148=) NC_000011.10:64755510:G:A Identity +NM_001134418.2:c.1092T>C NP_001127890.1:p.Tyr364= NC_000003.12:189972937:A:G p.(Tyr364=) NC_000003.12:189972937:A:G p.(Tyr364=) NC_000003.12:189972937:A:G Identity +NM_006767.4:c.36G>A NP_006758.2:p.Gly12= NC_000022.11:20982406:G:A p.(Gly12=) NC_000022.11:20982406:G:A p.(Gly12=) NC_000022.11:20982406:G:A Identity +NM_032043.3:c.1107C>T NP_114432.2:p.Tyr369= NC_000017.11:61801285:G:A p.(Tyr369=) NC_000017.11:61801285:G:A p.(Tyr369=) NC_000017.11:61801285:G:A Identity +NM_006946.4:c.6868C>A NP_008877.2:p.Arg2290= NC_000011.10:66687021:G:T p.(Arg2290=) NC_000011.10:66687021:G:T p.(Arg2290=) NC_000011.10:66687021:G:T Identity +NM_000828.5:c.495T>C NP_000819.4:p.Tyr165= NC_000023.11:123253528:T:C p.(Tyr165=) NC_000023.11:123253528:T:C p.(Tyr165=) NC_000023.11:123253528:T:C Identity +NM_001283009.2:c.3744G>A NP_001269938.1:p.Gly1248= NC_000020.11:63695571:G:A p.(Gly1248=) NC_000020.11:63695571:G:A p.(Gly1248=) NC_000020.11:63695571:G:A Identity +NM_001350234.2:c.76C>T NP_001337163.1:p.Leu26= NC_000001.11:9710530:C:T p.(Leu26=) NC_000001.11:9710530:C:T p.(Leu26=) NC_000001.11:9710530:C:T Identity +NM_000170.3:c.588G>A NP_000161.2:p.Leu196= NC_000009.12:6610238:C:T p.(Leu196=) NC_000009.12:6610238:C:T p.(Leu196=) NC_000009.12:6610238:C:T Identity +NM_001077397.1:c.123C>T NP_001070865.1:p.Val41= NC_000001.11:234609371:G:A p.(Val41=) NC_000001.11:234609371:G:A p.(Val41=) NC_000001.11:234609371:G:A Identity +NM_001048171.2:c.642G>T NP_001041636.2:p.Val214= NC_000001.11:45332452:C:A p.(Val214=) NC_000001.11:45332452:C:A p.(Val214=) NC_000001.11:45332452:C:A Identity +NM_001114978.2:c.405C>T NP_001108450.1:p.Asn135= NC_000003.12:189808351:C:T p.(Asn135=) NC_000003.12:189808351:C:T p.(Asn135=) NC_000003.12:189808351:C:T Identity +NM_020461.4:c.4473G>A NP_065194.3:p.Pro1491= NC_000022.11:50219298:C:T p.(Pro1491=) NC_000022.11:50219298:C:T p.(Pro1491=) NC_000022.11:50219298:C:T Identity +NM_006939.4:c.2049A>G NP_008870.2:p.Val683= NC_000014.9:50157006:T:C p.(Val683=) NC_000014.9:50157006:T:C p.(Val683=) NC_000014.9:50157006:T:C Identity +NM_001294332.2:c.96T>C NP_001281261.1:p.Gly32= NC_000005.10:223513:T:C p.(Gly32=) NC_000005.10:223513:T:C p.(Gly32=) NC_000005.10:223513:T:C Identity +NM_020919.4:c.4881A>G NP_065970.2:p.Leu1627= NC_000002.12:201704175:T:C p.(Leu1627=) NC_000002.12:201704175:T:C p.(Leu1627=) NC_000002.12:201704175:T:C Identity +NM_000186.4:c.2868G>A NP_000177.2:p.Thr956= NC_000001.11:196740703:G:A p.(Thr956=) NC_000001.11:196740703:G:A p.(Thr956=) NC_000001.11:196740703:G:A Identity +NM_013432.5:c.3312C>T NP_038460.4:p.Asp1104= NC_000008.11:144434052:G:A p.(Asp1104=) NC_000008.11:144434052:G:A p.(Asp1104=) NC_000008.11:144434052:G:A Identity +NM_001305942.2:c.42G>T NP_001292871.2:p.Gly14= NC_000009.12:128322899:G:T p.(Gly14=) NC_000009.12:128322899:G:T p.(Gly14=) NC_000009.12:128322899:G:T Identity +NM_001105243.2:c.639T>C NP_001098713.1:p.Gly213= NC_000023.11:100407958:A:G p.(Gly213=) NC_000023.11:100407958:A:G p.(Gly213=) NC_000023.11:100407958:A:G Identity +NM_001178044.2:c.696C>T NP_001171515.1:p.Tyr232= NC_000006.12:31870926:G:A p.(Tyr232=) NC_000006.12:31870926:G:A p.(Tyr232=) NC_000006.12:31870926:G:A Identity +NM_001178133.2:c.48G>T NP_001171604.1:p.Pro16= NC_000010.11:102504199:G:T p.(Pro16=) NC_000010.11:102504199:G:T p.(Pro16=) NC_000010.11:102504199:G:T Identity +NM_001031714.4:c.2973G>A NP_001026884.3:p.Arg991= NC_000014.9:104713538:G:A p.(Arg991=) NC_000014.9:104713538:G:A p.(Arg991=) NC_000014.9:104713538:G:A Identity +NM_001197104.2:c.9840A>G NP_001184033.1:p.Ser3280= NC_000011.10:118505731:A:G p.(Ser3280=) NC_000011.10:118505731:A:G p.(Ser3280=) NC_000011.10:118505731:A:G Identity +NM_001379500.1:c.1983C>A NP_001366429.1:p.Val661= NC_000021.9:45490297:C:A p.(Val661=) NC_000021.9:45490297:C:A p.(Val661=) NC_000021.9:45490297:C:A Identity +NM_005732.4:c.2058A>G NP_005723.2:p.Arg686= NC_000005.10:132595660:A:G p.(Arg686=) NC_000005.10:132595660:A:G p.(Arg686=) NC_000005.10:132595660:A:G Identity +NM_000721.4:c.3636G>A NP_000712.2:p.Leu1212= NC_000001.11:181739169:G:A p.(Leu1212=) NC_000001.11:181739169:G:A p.(Leu1212=) NC_000001.11:181739169:G:A Identity +NM_000632.4:c.2646G>A NP_000623.2:p.Thr882= NC_000016.10:31326872:G:A p.(Thr882=) NC_000016.10:31326872:G:A p.(Thr882=) NC_000016.10:31326872:G:A Identity +NM_001042498.3:c.468C>T NP_001035963.1:p.Ser156= NC_000023.11:48905440:G:A p.(Ser156=) NC_000023.11:48905440:G:A p.(Ser156=) NC_000023.11:48905440:G:A Identity +NM_001195573.1:c.510C>T NP_001182502.1:p.Asn170= NC_000014.9:95130120:G:A p.(Asn170=) NC_000014.9:95130120:G:A p.(Asn170=) NC_000014.9:95130120:G:A Identity +NM_001130144.3:c.1065C>T NP_001123616.1:p.Asp355= NC_000011.10:65552980:G:A p.(Asp355=) NC_000011.10:65552980:G:A p.(Asp355=) NC_000011.10:65552980:G:A Identity +NM_001100913.3:c.993G>A NP_001094383.2:p.Ser331= NC_000014.9:105379771:G:A p.(Ser331=) NC_000014.9:105379771:G:A p.(Ser331=) NC_000014.9:105379771:G:A Identity +NM_000228.3:c.3066G>A NP_000219.2:p.Leu1022= NC_000001.11:209617571:C:T p.(Leu1022=) NC_000001.11:209617571:C:T p.(Leu1022=) NC_000001.11:209617571:C:T Identity +NM_001081640.2:c.2670G>A NP_001075109.1:p.Lys890= NC_000008.11:47914011:C:T p.(Lys890=) NC_000008.11:47914011:C:T p.(Lys890=) NC_000008.11:47914011:C:T Identity +NM_001039141.3:c.6921C>T NP_001034230.1:p.Leu2307= NC_000022.11:37771720:C:T p.(Leu2307=) NC_000022.11:37771720:C:T p.(Leu2307=) NC_000022.11:37771720:C:T Identity +NM_000057.4:c.3171A>G NP_000048.1:p.Lys1057= NC_000015.10:90794317:A:G p.(Lys1057=) NC_000015.10:90794317:A:G p.(Lys1057=) NC_000015.10:90794317:A:G Identity +NM_000102.4:c.558C>T NP_000093.1:p.Thr186= NC_000010.11:102834892:G:A p.(Thr186=) NC_000010.11:102834892:G:A p.(Thr186=) NC_000010.11:102834892:G:A Identity +NM_001286577.2:c.4533C>T NP_001273506.1:p.Ser1511= NC_000011.10:74078184:G:A p.(Ser1511=) NC_000011.10:74078184:G:A p.(Ser1511=) NC_000011.10:74078184:G:A Identity +NM_001282587.2:c.1152C>T NP_001269516.1:p.Phe384= NC_000001.11:9263611:C:T p.(Phe384=) NC_000001.11:9263611:C:T p.(Phe384=) NC_000001.11:9263611:C:T Identity +NM_001130992.3:c.192A>G NP_001124464.1:p.Pro64= NC_000003.12:139539526:T:C p.(Pro64=) NC_000003.12:139539526:T:C p.(Pro64=) NC_000003.12:139539526:T:C Identity +NM_001128602.2:c.1137C>T NP_001122074.1:p.Asn379= NC_000015.10:38507830:G:A p.(Asn379=) NC_000015.10:38507830:G:A p.(Asn379=) NC_000015.10:38507830:G:A Identity +NM_000153.4:c.1383T>C NP_000144.2:p.Asp461= NC_000014.9:87947833:A:G p.(Asp461=) NC_000014.9:87947833:A:G p.(Asp461=) NC_000014.9:87947833:A:G Identity +NM_001105540.2:c.2685G>A NP_001099010.1:p.Pro895= NC_000011.10:46376356:G:A p.(Pro895=) NC_000011.10:46376356:G:A p.(Pro895=) NC_000011.10:46376356:G:A Identity +NM_004444.5:c.267G>A NP_004435.3:p.Thr89= NC_000007.14:100823787:C:T p.(Thr89=) NC_000007.14:100823787:C:T p.(Thr89=) NC_000007.14:100823787:C:T Identity +NM_001143990.2:c.780C>T NP_001137462.1:p.Phe260= NC_000017.11:7701506:C:T p.(Phe260=) NC_000017.11:7701506:C:T p.(Phe260=) NC_000017.11:7701506:C:T Identity +NM_000361.3:c.1032G>A NP_000352.1:p.Gln344= NC_000020.11:23048472:C:T p.(Gln344=) NC_000020.11:23048472:C:T p.(Gln344=) NC_000020.11:23048472:C:T Identity +NM_001354617.2:c.1455A>C NP_001341546.1:p.Ser485= NC_000003.12:37050559:A:C p.(Ser485=) NC_000003.12:37050559:A:C p.(Ser485=) NC_000003.12:37050559:A:C Identity +NM_000308.4:c.1425G>C NP_000299.3:p.Leu475= NC_000020.11:45898431:G:C p.(Leu475=) NC_000020.11:45898431:G:C p.(Leu475=) NC_000020.11:45898431:G:C Identity +NM_001308301.1:c.531C>T NP_001295230.1:p.His177= NC_000016.10:46730606:G:A p.(His177=) NC_000016.10:46730606:G:A p.(His177=) NC_000016.10:46730606:G:A Identity +NM_001112808.3:c.1002T>C NP_001106279.3:p.Asn334= NC_000001.11:74342857:T:C p.(Asn334=) NC_000001.11:74342857:T:C p.(Asn334=) NC_000001.11:74342857:T:C Identity +NM_001164097.2:c.2451A>G NP_001157569.1:p.Ala817= NC_000005.10:83538414:A:G p.(Ala817=) NC_000005.10:83538414:A:G p.(Ala817=) NC_000005.10:83538414:A:G Identity +NM_000404.4:c.1794G>A NP_000395.3:p.Gln598= NC_000003.12:32997284:C:T p.(Gln598=) NC_000003.12:32997284:C:T p.(Gln598=) NC_000003.12:32997284:C:T Identity +NM_000527.5:c.930C>T NP_000518.1:p.Ile310= NC_000019.10:11107503:C:T p.(Ile310=) NC_000019.10:11107503:C:T p.(Ile310=) NC_000019.10:11107503:C:T Identity +NM_000028.3:c.2229T>C NP_000019.2:p.Val743= NC_000001.11:99881611:T:C p.(Val743=) NC_000001.11:99881611:T:C p.(Val743=) NC_000001.11:99881611:T:C Identity +NM_001193333.3:c.261C>T NP_001180262.1:p.Ile87= NC_000016.10:30186659:C:T p.(Ile87=) NC_000016.10:30186659:C:T p.(Ile87=) NC_000016.10:30186659:C:T Identity +NM_000068.4:c.6789G>T NP_000059.3:p.Ala2263= NC_000019.10:13208764:C:A p.(Ala2263=) NC_000019.10:13208764:C:A p.(Ala2263=) NC_000019.10:13208764:C:A Identity +NM_001170649.2:c.21C>T NP_001164120.1:p.Ala7= NC_000023.11:65534694:G:A p.(Ala7=) NC_000023.11:65534694:G:A p.(Ala7=) NC_000023.11:65534694:G:A Identity +NM_000784.4:c.87C>T NP_000775.1:p.Ala29= NC_000002.12:218782268:C:T p.(Ala29=) NC_000002.12:218782268:C:T p.(Ala29=) NC_000002.12:218782268:C:T Identity +NM_015243.3:c.675G>A NP_056058.2:p.Gln225= NC_000008.11:99111191:G:A p.(Gln225=) NC_000008.11:99111191:G:A p.(Gln225=) NC_000008.11:99111191:G:A Identity +NM_001139490.1:c.798C>T NP_001132962.1:p.Asp266= NC_000002.12:238329224:C:T p.(Asp266=) NC_000002.12:238329224:C:T p.(Asp266=) NC_000002.12:238329224:C:T Identity +NM_001195573.1:c.3201A>G NP_001182502.1:p.Ala1067= NC_000014.9:95105138:T:C p.(Ala1067=) NC_000014.9:95105138:T:C p.(Ala1067=) NC_000014.9:95105138:T:C Identity +NM_000557.5:c.720G>T NP_000548.2:p.Arg240= NC_000020.11:35434694:C:A p.(Arg240=) NC_000020.11:35434694:C:A p.(Arg240=) NC_000020.11:35434694:C:A Identity +NM_030665.4:c.108C>T NP_109590.3:p.Ala36= NC_000017.11:17793055:C:T p.(Ala36=) NC_000017.11:17793055:C:T p.(Ala36=) NC_000017.11:17793055:C:T Identity +NM_001009994.3:c.351C>T NP_001009994.1:p.Ser117= NC_000006.12:83857352:C:T p.(Ser117=) NC_000006.12:83857352:C:T p.(Ser117=) NC_000006.12:83857352:C:T Identity +NM_014239.4:c.120G>A NP_055054.1:p.Gly40= NC_000014.9:75003109:G:A p.(Gly40=) NC_000014.9:75003109:G:A p.(Gly40=) NC_000014.9:75003109:G:A Identity +NM_000245.4:c.339A>G NP_000236.2:p.Lys113= NC_000007.14:116699422:A:G p.(Lys113=) NC_000007.14:116699422:A:G p.(Lys113=) NC_000007.14:116699422:A:G Identity +NM_000028.3:c.2622T>C NP_000019.2:p.Phe874= NC_000001.11:99884643:T:C p.(Phe874=) NC_000001.11:99884643:T:C p.(Phe874=) NC_000001.11:99884643:T:C Identity +NM_000395.3:c.1218C>T NP_000386.1:p.Thr406= NC_000022.11:36933896:C:T p.(Thr406=) NC_000022.11:36933896:C:T p.(Thr406=) NC_000022.11:36933896:C:T Identity +NM_001007792.1:c.594C>T NP_001007793.1:p.Ile198= NC_000001.11:156868613:C:T p.(Ile198=) NC_000001.11:156868613:C:T p.(Ile198=) NC_000001.11:156868613:C:T Identity +NM_153006.3:c.1224G>A NP_694551.1:p.Leu408= NC_000017.11:44007449:G:A p.(Leu408=) NC_000017.11:44007449:G:A p.(Leu408=) NC_000017.11:44007449:G:A Identity +NM_001164507.2:c.5313C>T NP_001157979.2:p.Leu1771= NC_000002.12:151664788:G:A p.(Leu1771=) NC_000002.12:151664788:G:A p.(Leu1771=) NC_000002.12:151664788:G:A Identity +NM_000263.4:c.111C>G NP_000254.2:p.Ala37= NC_000017.11:42536382:C:G p.(Ala37=) NC_000017.11:42536382:C:G p.(Ala37=) NC_000017.11:42536382:C:G Identity +NM_001346083.2:c.1608C>T NP_001333012.1:p.Pro536= NC_000001.11:205065174:C:T p.(Pro536=) NC_000001.11:205065174:C:T p.(Pro536=) NC_000001.11:205065174:C:T Identity +NM_006445.4:c.3553C>T NP_006436.3:p.Leu1185= NC_000017.11:1673460:G:A p.(Leu1185=) NC_000017.11:1673460:G:A p.(Leu1185=) NC_000017.11:1673460:G:A Identity +NM_001845.6:c.3615C>G NP_001836.3:p.Ser1205= NC_000013.11:110170673:G:C p.(Ser1205=) NC_000013.11:110170673:G:C p.(Ser1205=) NC_000013.11:110170673:G:C Identity +NM_001040113.2:c.228C>T NP_001035202.1:p.Ile76= NC_000016.10:15838024:G:A p.(Ile76=) NC_000016.10:15838024:G:A p.(Ile76=) NC_000016.10:15838024:G:A Identity +NM_001293557.2:c.2022C>T NP_001280486.1:p.Leu674= NC_000016.10:50712013:C:T p.(Leu674=) NC_000016.10:50712013:C:T p.(Leu674=) NC_000016.10:50712013:C:T Identity +NM_001288705.3:c.1236C>T NP_001275634.1:p.Asn412= NC_000005.10:150070264:G:A p.(Asn412=) NC_000005.10:150070264:G:A p.(Asn412=) NC_000005.10:150070264:G:A Identity +NM_000112.4:c.1320T>C NP_000103.2:p.Leu440= NC_000005.10:149980912:T:C p.(Leu440=) NC_000005.10:149980912:T:C p.(Leu440=) NC_000005.10:149980912:T:C Identity +NM_000287.4:c.693A>G NP_000278.3:p.Ser231= NC_000006.12:42978457:T:C p.(Ser231=) NC_000006.12:42978457:T:C p.(Ser231=) NC_000006.12:42978457:T:C Identity +NM_001007792.1:c.1644C>A NP_001007793.1:p.Pro548= NC_000001.11:156876518:C:A p.(Pro548=) NC_000001.11:156876518:C:A p.(Pro548=) NC_000001.11:156876518:C:A Identity +NM_001352773.2:c.2022G>A NP_001339702.1:p.Lys674= NC_000017.11:41757438:C:T p.(Lys674=) NC_000017.11:41757438:C:T p.(Lys674=) NC_000017.11:41757438:C:T Identity +NM_001363227.2:c.27C>A NP_001350156.1:p.Ala9= NC_000008.11:43140522:C:A p.(Ala9=) NC_000008.11:43140522:C:A p.(Ala9=) NC_000008.11:43140522:C:A Identity +NM_001008537.3:c.528G>A NP_001008537.1:p.Thr176= NC_000023.11:74744028:C:T p.(Thr176=) NC_000023.11:74744028:C:T p.(Thr176=) NC_000023.11:74744028:C:T Identity +NM_023073.4:c.1098T>C NP_075561.3:p.Pro366= NC_000005.10:37230889:A:G p.(Pro366=) NC_000005.10:37230889:A:G p.(Pro366=) NC_000005.10:37230889:A:G Identity +NM_001142605.2:c.2079T>C NP_001136077.1:p.Ala693= NC_000017.11:44854630:A:G p.(Ala693=) NC_000017.11:44854630:A:G p.(Ala693=) NC_000017.11:44854630:A:G Identity +NM_001378454.1:c.3405C>G NP_001365383.1:p.Gly1135= NC_000002.12:73449931:C:G p.(Gly1135=) NC_000002.12:73449931:C:G p.(Gly1135=) NC_000002.12:73449931:C:G Identity +NM_001167961.2:c.82C>T NP_001161433.1:p.Leu28= NC_000007.14:66629145:C:T p.(Leu28=) NC_000007.14:66629145:C:T p.(Leu28=) NC_000007.14:66629145:C:T Identity +NM_173849.3:c.6C>A NP_776248.1:p.Pro2= NC_000014.9:94770009:G:T p.(Pro2=) NC_000014.9:94770009:G:T p.(Pro2=) NC_000014.9:94770009:G:T Identity +NM_002473.6:c.2763G>A NP_002464.1:p.Glu921= NC_000022.11:36300925:C:T p.(Glu921=) NC_000022.11:36300925:C:T p.(Glu921=) NC_000022.11:36300925:C:T Identity +NM_000817.3:c.1557A>G NP_000808.2:p.Pro519= NC_000002.12:170858838:A:G p.(Pro519=) NC_000002.12:170858838:A:G p.(Pro519=) NC_000002.12:170858838:A:G Identity +NM_001304482.2:c.2958A>T NP_001291411.1:p.Arg986= NC_000003.12:47411133:A:T p.(Arg986=) NC_000003.12:47411133:A:T p.(Arg986=) NC_000003.12:47411133:A:T Identity +NM_001304438.2:c.447C>T NP_001291367.1:p.Ala149= NC_000017.11:34626505:C:T p.(Ala149=) NC_000017.11:34626505:C:T p.(Ala149=) NC_000017.11:34626505:C:T Identity +NM_001379141.1:c.2217C>T NP_001366070.1:p.Ser739= NC_000018.10:44951556:C:T p.(Ser739=) NC_000018.10:44951556:C:T p.(Ser739=) NC_000018.10:44951556:C:T Identity +NM_001440.4:c.2007T>C NP_001431.1:p.Thr669= NC_000008.11:28718065:T:C p.(Thr669=) NC_000008.11:28718065:T:C p.(Thr669=) NC_000008.11:28718065:T:C Identity +NM_001329128.2:c.831G>A NP_001316057.1:p.Leu277= NC_000021.9:33432765:G:A p.(Leu277=) NC_000021.9:33432765:G:A p.(Leu277=) NC_000021.9:33432765:G:A Identity +NM_001163435.3:c.2460T>C NP_001156907.2:p.Ala820= NC_000004.12:106095592:A:G p.(Ala820=) NC_000004.12:106095592:A:G p.(Ala820=) NC_000004.12:106095592:A:G Identity +NM_001001890.3:c.696T>C NP_001001890.1:p.Phe232= NC_000021.9:34834437:A:G p.(Phe232=) NC_000021.9:34834437:A:G p.(Phe232=) NC_000021.9:34834437:A:G Identity +NM_001300897.2:c.129C>T NP_001287826.1:p.Asp43= NC_000004.12:129044024:G:A p.(Asp43=) NC_000004.12:129044024:G:A p.(Asp43=) NC_000004.12:129044024:G:A Identity +NM_004304.5:c.2559A>G NP_004295.2:p.Thr853= NC_000002.12:29232376:T:C p.(Thr853=) NC_000002.12:29232376:T:C p.(Thr853=) NC_000002.12:29232376:T:C Identity +NM_001351059.2:c.984C>T NP_001337988.1:p.Tyr328= NC_000011.10:68049284:C:T p.(Tyr328=) NC_000011.10:68049284:C:T p.(Tyr328=) NC_000011.10:68049284:C:T Identity +NM_001308164.2:c.781T>C NP_001295093.1:p.Leu261= NC_000003.12:158652129:T:C p.(Leu261=) NC_000003.12:158652129:T:C p.(Leu261=) NC_000003.12:158652129:T:C Identity +NM_001135040.3:c.2142C>T NP_001128512.1:p.His714= NC_000002.12:74367402:G:A p.(His714=) NC_000002.12:74367402:G:A p.(His714=) NC_000002.12:74367402:G:A Identity +NM_004706.4:c.1776C>T NP_004697.2:p.Ala592= NC_000019.10:41903343:C:T p.(Ala592=) NC_000019.10:41903343:C:T p.(Ala592=) NC_000019.10:41903343:C:T Identity +NM_000721.4:c.5568C>T NP_000712.2:p.Pro1856= NC_000001.11:181784757:C:T p.(Pro1856=) NC_000001.11:181784757:C:T p.(Pro1856=) NC_000001.11:181784757:C:T Identity +NM_000064.4:c.1824G>A NP_000055.2:p.Lys608= NC_000019.10:6709704:C:T p.(Lys608=) NC_000019.10:6709704:C:T p.(Lys608=) NC_000019.10:6709704:C:T Identity +NM_000260.4:c.5925A>G NP_000251.3:p.Lys1975= NC_000011.10:77208497:A:G p.(Lys1975=) NC_000011.10:77208497:A:G p.(Lys1975=) NC_000011.10:77208497:A:G Identity +NM_003482.4:c.11442C>T NP_003473.3:p.His3814= NC_000012.12:49033262:G:A p.(His3814=) NC_000012.12:49033262:G:A p.(His3814=) NC_000012.12:49033262:G:A Identity +NM_133259.4:c.3642A>G NP_573566.2:p.Gln1214= NC_000002.12:43899532:T:C p.(Gln1214=) NC_000002.12:43899532:T:C p.(Gln1214=) NC_000002.12:43899532:T:C Identity +NM_000068.4:c.2451A>G NP_000059.3:p.Pro817= NC_000019.10:13299193:T:C p.(Pro817=) NC_000019.10:13299193:T:C p.(Pro817=) NC_000019.10:13299193:T:C Identity +NM_001159291.2:c.870C>T NP_001152763.1:p.Asp290= NC_000006.12:109451662:G:A p.(Asp290=) NC_000006.12:109451662:G:A p.(Asp290=) NC_000006.12:109451662:G:A Identity +NM_000491.5:c.747A>C NP_000482.3:p.Pro249= NC_000001.11:22661370:A:C p.(Pro249=) NC_000001.11:22661370:A:C p.(Pro249=) NC_000001.11:22661370:A:C Identity +NM_001035.3:c.4218C>A NP_001026.2:p.Thr1406= NC_000001.11:237591795:C:A p.(Thr1406=) NC_000001.11:237591795:C:A p.(Thr1406=) NC_000001.11:237591795:C:A Identity +NM_014049.5:c.1353G>A NP_054768.2:p.Arg451= NC_000003.12:128908258:G:A p.(Arg451=) NC_000003.12:128908258:G:A p.(Arg451=) NC_000003.12:128908258:G:A Identity +NM_001288705.3:c.2307C>T NP_001275634.1:p.Leu769= NC_000005.10:150057298:G:A p.(Leu769=) NC_000005.10:150057298:G:A p.(Leu769=) NC_000005.10:150057298:G:A Identity +NM_000393.5:c.4239C>T NP_000384.2:p.Asp1413= NC_000002.12:189035029:G:A p.(Asp1413=) NC_000002.12:189035029:G:A p.(Asp1413=) NC_000002.12:189035029:G:A Identity +NM_001114101.3:c.558C>T NP_001107573.1:p.Gly186= NC_000001.11:22647602:C:T p.(Gly186=) NC_000001.11:22647602:C:T p.(Gly186=) NC_000001.11:22647602:C:T Identity +NM_001100112.2:c.75T>C NP_001093582.1:p.Ile25= NC_000017.11:10547845:A:G p.(Ile25=) NC_000017.11:10547845:A:G p.(Ile25=) NC_000017.11:10547845:A:G Identity +NM_004260.4:c.375C>T NP_004251.4:p.Arg125= NC_000008.11:144516743:G:A p.(Arg125=) NC_000008.11:144516743:G:A p.(Arg125=) NC_000008.11:144516743:G:A Identity +NM_001035507.3:c.942G>A NP_001030584.1:p.Gln314= NC_000002.12:27055714:G:A p.(Gln314=) NC_000002.12:27055714:G:A p.(Gln314=) NC_000002.12:27055714:G:A Identity +NM_001130442.3:c.195C>T NP_001123914.1:p.Ser65= NC_000011.10:533860:G:A p.(Ser65=) NC_000011.10:533860:G:A p.(Ser65=) NC_000011.10:533860:G:A Identity +NM_001378454.1:c.11724T>C NP_001365383.1:p.Thr3908= NC_000002.12:73600732:T:C p.(Thr3908=) NC_000002.12:73600732:T:C p.(Thr3908=) NC_000002.12:73600732:T:C Identity +NM_015693.4:c.984T>G NP_056508.2:p.Leu328= NC_000004.12:127669046:T:G p.(Leu328=) NC_000004.12:127669046:T:G p.(Leu328=) NC_000004.12:127669046:T:G Identity +NM_000391.4:c.63C>T NP_000382.3:p.Tyr21= NC_000011.10:6619221:G:A p.(Tyr21=) NC_000011.10:6619221:G:A p.(Tyr21=) NC_000011.10:6619221:G:A Identity +NM_012079.6:c.1389C>T NP_036211.2:p.Ile463= NC_000008.11:144316631:G:A p.(Ile463=) NC_000008.11:144316631:G:A p.(Ile463=) NC_000008.11:144316631:G:A Identity +NM_024928.5:c.15C>T NP_079204.2:p.Ser5= NC_000010.11:103917579:G:A p.(Ser5=) NC_000010.11:103917579:G:A p.(Ser5=) NC_000010.11:103917579:G:A Identity +NM_000051.4:c.552A>G NP_000042.3:p.Arg184= NC_000011.10:108244007:A:G p.(Arg184=) NC_000011.10:108244007:A:G p.(Arg184=) NC_000011.10:108244007:A:G Identity +NM_000498.3:c.222G>A NP_000489.3:p.Glu74= NC_000008.11:142917618:C:T p.(Glu74=) NC_000008.11:142917618:C:T p.(Glu74=) NC_000008.11:142917618:C:T Identity +NM_020693.4:c.3954C>T NP_065744.3:p.Ala1318= NC_000011.10:117439844:G:A p.(Ala1318=) NC_000011.10:117439844:G:A p.(Ala1318=) NC_000011.10:117439844:G:A Identity +NM_001378454.1:c.7666T>C NP_001365383.1:p.Leu2556= NC_000002.12:73455286:T:C p.(Leu2556=) NC_000002.12:73455286:T:C p.(Leu2556=) NC_000002.12:73455286:T:C Identity +NM_001142763.2:c.927C>T NP_001136235.1:p.Ile309= NC_000010.11:54236895:G:A p.(Ile309=) NC_000010.11:54236895:G:A p.(Ile309=) NC_000010.11:54236895:G:A Identity +NM_000663.5:c.417T>C NP_000654.2:p.Phe139= NC_000016.10:8764118:T:C p.(Phe139=) NC_000016.10:8764118:T:C p.(Phe139=) NC_000016.10:8764118:T:C Identity +NM_001113378.2:c.3678G>A NP_001106849.1:p.Thr1226= NC_000015.10:89312929:G:A p.(Thr1226=) NC_000015.10:89312929:G:A p.(Thr1226=) NC_000015.10:89312929:G:A Identity +NM_001376058.1:c.150C>T NP_001362987.1:p.Ser50= NC_000003.12:57199768:G:A p.(Ser50=) NC_000003.12:57199768:G:A p.(Ser50=) NC_000003.12:57199768:G:A Identity +NM_003801.4:c.1836G>A NP_003792.1:p.Leu612= NC_000008.11:144086094:G:A p.(Leu612=) NC_000008.11:144086094:G:A p.(Leu612=) NC_000008.11:144086094:G:A Identity +NM_000053.4:c.2271G>A NP_000044.2:p.Glu757= NC_000013.11:51958394:C:T p.(Glu757=) NC_000013.11:51958394:C:T p.(Glu757=) NC_000013.11:51958394:C:T Identity +NM_020461.4:c.5133T>G NP_065194.3:p.Arg1711= NC_000022.11:50218223:A:C p.(Arg1711=) NC_000022.11:50218223:A:C p.(Arg1711=) NC_000022.11:50218223:A:C Identity +NM_006493.4:c.798T>C NP_006484.2:p.Pro266= NC_000013.11:77000689:T:C p.(Pro266=) NC_000013.11:77000689:T:C p.(Pro266=) NC_000013.11:77000689:T:C Identity +NM_001190274.2:c.294A>G NP_001177203.1:p.Pro98= NC_000002.12:47839707:T:C p.(Pro98=) NC_000002.12:47839707:T:C p.(Pro98=) NC_000002.12:47839707:T:C Identity +NM_001042544.1:c.4272C>T NP_001036009.1:p.Tyr1424= NC_000019.10:40627059:C:T p.(Tyr1424=) NC_000019.10:40627059:C:T p.(Tyr1424=) NC_000019.10:40627059:C:T Identity +NM_001135597.2:c.4221A>G NP_001129069.1:p.Lys1407= NC_000002.12:55308971:T:C p.(Lys1407=) NC_000002.12:55308971:T:C p.(Lys1407=) NC_000002.12:55308971:T:C Identity +NM_001165962.2:c.1623C>T NP_001159434.1:p.Pro541= NC_000017.11:12995767:G:A p.(Pro541=) NC_000017.11:12995767:G:A p.(Pro541=) NC_000017.11:12995767:G:A Identity +NM_003482.4:c.11028T>A NP_003473.3:p.Ala3676= NC_000012.12:49033676:A:T p.(Ala3676=) NC_000012.12:49033676:A:T p.(Ala3676=) NC_000012.12:49033676:A:T Identity +NM_005266.7:c.438G>A NP_005257.2:p.Gln146= NC_000001.11:147758800:C:T p.(Gln146=) NC_000001.11:147758800:C:T p.(Gln146=) NC_000001.11:147758800:C:T Identity +NM_000663.5:c.13T>C NP_000654.2:p.Leu5= NC_000016.10:8735751:T:C p.(Leu5=) NC_000016.10:8735751:T:C p.(Leu5=) NC_000016.10:8735751:T:C Identity +NM_003000.3:c.318T>C NP_002991.2:p.Asn106= NC_000001.11:17028704:A:G p.(Asn106=) NC_000001.11:17028704:A:G p.(Asn106=) NC_000001.11:17028704:A:G Identity +NM_000103.4:c.444T>C NP_000094.2:p.Phe148= NC_000015.10:51227785:A:G p.(Phe148=) NC_000015.10:51227785:A:G p.(Phe148=) NC_000015.10:51227785:A:G Identity +NM_001252043.2:c.2160C>T NP_001238972.1:p.Tyr720= NC_000016.10:29986431:C:T p.(Tyr720=) NC_000016.10:29986431:C:T p.(Tyr720=) NC_000016.10:29986431:C:T Identity +NM_001289078.2:c.1092G>C NP_001276007.1:p.Leu364= NC_000010.11:14909049:C:G p.(Leu364=) NC_000010.11:14909049:C:G p.(Leu364=) NC_000010.11:14909049:C:G Identity +NM_001005407.2:c.6426C>T NP_001005407.1:p.Gly2142= NC_000016.10:1220375:C:T p.(Gly2142=) NC_000016.10:1220375:C:T p.(Gly2142=) NC_000016.10:1220375:C:T Identity +NM_001145036.2:c.1737C>T NP_001138508.1:p.Phe579= NC_000001.11:230688507:C:T p.(Phe579=) NC_000001.11:230688507:C:T p.(Phe579=) NC_000001.11:230688507:C:T Identity +NM_001365536.1:c.3597C>T NP_001352465.1:p.Val1199= NC_000002.12:166242531:G:A p.(Val1199=) NC_000002.12:166242531:G:A p.(Val1199=) NC_000002.12:166242531:G:A Identity +NM_000228.3:c.228C>T NP_000219.2:p.Asn76= NC_000001.11:209638603:G:A p.(Asn76=) NC_000001.11:209638603:G:A p.(Asn76=) NC_000001.11:209638603:G:A Identity +NM_000944.5:c.1425C>T NP_000935.1:p.Gly475= NC_000004.12:101026005:G:A p.(Gly475=) NC_000004.12:101026005:G:A p.(Gly475=) NC_000004.12:101026005:G:A Identity +NM_138694.4:c.10323T>C NP_619639.3:p.Phe3441= NC_000006.12:51659802:A:G p.(Phe3441=) NC_000006.12:51659802:A:G p.(Phe3441=) NC_000006.12:51659802:A:G Identity +NM_001171933.1:c.39C>T NP_001165404.1:p.Thr13= NC_000010.11:71797149:C:T p.(Thr13=) NC_000010.11:71797149:C:T p.(Thr13=) NC_000010.11:71797149:C:T Identity +NM_015180.6:c.18240G>A NP_055995.4:p.Val6080= NC_000014.9:64208795:G:A p.(Val6080=) NC_000014.9:64208795:G:A p.(Val6080=) NC_000014.9:64208795:G:A Identity +NM_002299.4:c.876C>T NP_002290.2:p.Asn292= NC_000002.12:135823931:G:A p.(Asn292=) NC_000002.12:135823931:G:A p.(Asn292=) NC_000002.12:135823931:G:A Identity +NM_001805.4:c.279T>C NP_001796.2:p.His93= NC_000014.9:23118812:A:G p.(His93=) NC_000014.9:23118812:A:G p.(His93=) NC_000014.9:23118812:A:G Identity +NM_006623.4:c.1035C>A NP_006614.2:p.Ala345= NC_000001.11:119740474:C:A p.(Ala345=) NC_000001.11:119740474:C:A p.(Ala345=) NC_000001.11:119740474:C:A Identity +NM_000401.3:c.1050C>T NP_000392.3:p.Phe350= NC_000011.10:44126826:C:T p.(Phe350=) NC_000011.10:44126826:C:T p.(Phe350=) NC_000011.10:44126826:C:T Identity +NM_016955.4:c.693G>T NP_058651.3:p.Val231= NC_000004.12:25155005:C:A p.(Val231=) NC_000004.12:25155005:C:A p.(Val231=) NC_000004.12:25155005:C:A Identity +NM_000303.3:c.273G>A NP_000294.1:p.Leu91= NC_000016.10:8806332:G:A p.(Leu91=) NC_000016.10:8806332:G:A p.(Leu91=) NC_000016.10:8806332:G:A Identity +NM_003276.2:c.1662A>G NP_003267.1:p.Gln554= NC_000012.12:98533918:A:G p.(Gln554=) NC_000012.12:98533918:A:G p.(Gln554=) NC_000012.12:98533918:A:G Identity +NM_001042465.3:c.939G>A NP_001035930.1:p.Lys313= NC_000010.11:71820314:C:T p.(Lys313=) NC_000010.11:71820314:C:T p.(Lys313=) NC_000010.11:71820314:C:T Identity +NM_001261427.3:c.2274G>T NP_001248356.1:p.Leu758= NC_000002.12:11815201:G:T p.(Leu758=) NC_000002.12:11815201:G:T p.(Leu758=) NC_000002.12:11815201:G:T Identity +NM_002471.4:c.4923C>T NP_002462.2:p.Ala1641= NC_000014.9:23386350:G:A p.(Ala1641=) NC_000014.9:23386350:G:A p.(Ala1641=) NC_000014.9:23386350:G:A Identity +NM_001164507.2:c.24303G>A NP_001157979.2:p.Val8101= NC_000002.12:151497030:C:T p.(Val8101=) NC_000002.12:151497030:C:T p.(Val8101=) NC_000002.12:151497030:C:T Identity +NM_001164507.2:c.12645C>T NP_001157979.2:p.Leu4215= NC_000002.12:151606707:G:A p.(Leu4215=) NC_000002.12:151606707:G:A p.(Leu4215=) NC_000002.12:151606707:G:A Identity +NM_024854.5:c.348T>C NP_079130.2:p.Ala116= NC_000012.12:21449624:T:C p.(Ala116=) NC_000012.12:21449624:T:C p.(Ala116=) NC_000012.12:21449624:T:C Identity +NM_001195227.2:c.375G>T NP_001182156.1:p.Ser125= NC_000019.10:49168023:G:T p.(Ser125=) NC_000019.10:49168023:G:T p.(Ser125=) NC_000019.10:49168023:G:T Identity +NM_006767.4:c.2505G>A NP_006758.2:p.Glu835= NC_000022.11:20997329:G:A p.(Glu835=) NC_000022.11:20997329:G:A p.(Glu835=) NC_000022.11:20997329:G:A Identity +NM_004260.4:c.2853G>C NP_004251.4:p.Gly951= NC_000008.11:144512673:C:G p.(Gly951=) NC_000008.11:144512673:C:G p.(Gly951=) NC_000008.11:144512673:C:G Identity +NM_207352.4:c.1527A>G NP_997235.3:p.Pro509= NC_000004.12:186210589:A:G p.(Pro509=) NC_000004.12:186210589:A:G p.(Pro509=) NC_000004.12:186210589:A:G Identity +NM_000028.3:c.2175T>A NP_000019.2:p.Val725= NC_000001.11:99881557:T:A p.(Val725=) NC_000001.11:99881557:T:A p.(Val725=) NC_000001.11:99881557:T:A Identity +NM_001025107.3:c.2298T>C NP_001020278.1:p.Tyr766= NC_000001.11:154586199:A:G p.(Tyr766=) NC_000001.11:154586199:A:G p.(Tyr766=) NC_000001.11:154586199:A:G Identity +NM_001157.3:c.1167C>T NP_001148.1:p.Ala389= NC_000010.11:80161947:G:A p.(Ala389=) NC_000010.11:80161947:G:A p.(Ala389=) NC_000010.11:80161947:G:A Identity +NM_001199922.2:c.312T>C NP_001186851.1:p.Ala104= NC_000011.10:124654781:A:G p.(Ala104=) NC_000011.10:124654781:A:G p.(Ala104=) NC_000011.10:124654781:A:G Identity +NM_001128227.3:c.684C>T NP_001121699.1:p.Tyr228= NC_000009.12:36246055:G:A p.(Tyr228=) NC_000009.12:36246055:G:A p.(Tyr228=) NC_000009.12:36246055:G:A Identity +NM_001114331.3:c.1230G>A NP_001107803.1:p.Ser410= NC_000016.10:1452805:C:T p.(Ser410=) NC_000016.10:1452805:C:T p.(Ser410=) NC_000016.10:1452805:C:T Identity +NM_001164507.2:c.3687G>A NP_001157979.2:p.Arg1229= NC_000002.12:151677651:C:T p.(Arg1229=) NC_000002.12:151677651:C:T p.(Arg1229=) NC_000002.12:151677651:C:T Identity +NM_032242.4:c.2685C>T NP_115618.3:p.Asp895= NC_000003.12:127014557:C:T p.(Asp895=) NC_000003.12:127014557:C:T p.(Asp895=) NC_000003.12:127014557:C:T Identity +NM_000019.4:c.984T>A NP_000010.1:p.Ala328= NC_000011.10:108144025:T:A p.(Ala328=) NC_000011.10:108144025:T:A p.(Ala328=) NC_000011.10:108144025:T:A Identity +NM_020232.5:c.48C>T NP_064617.2:p.Thr16= NC_000018.10:12703154:C:T p.(Thr16=) NC_000018.10:12703154:C:T p.(Thr16=) NC_000018.10:12703154:C:T Identity +NM_001207055.2:c.2076C>T NP_001193984.1:p.Asp692= NC_000020.11:32807791:C:T p.(Asp692=) NC_000020.11:32807791:C:T p.(Asp692=) NC_000020.11:32807791:C:T Identity +NM_000404.4:c.366C>G NP_000395.3:p.Pro122= NC_000003.12:33068849:G:C p.(Pro122=) NC_000003.12:33068849:G:C p.(Pro122=) NC_000003.12:33068849:G:C Identity +NM_000721.4:c.1584T>C NP_000712.2:p.Tyr528= NC_000001.11:181718112:T:C p.(Tyr528=) NC_000001.11:181718112:T:C p.(Tyr528=) NC_000001.11:181718112:T:C Identity +NM_014252.4:c.831C>T NP_055067.1:p.Phe277= NC_000013.11:40809591:C:T p.(Phe277=) NC_000013.11:40809591:C:T p.(Phe277=) NC_000013.11:40809591:C:T Identity +NM_001306090.2:c.1836C>T NP_001293019.1:p.His612= NC_000004.12:5793666:C:T p.(His612=) NC_000004.12:5793666:C:T p.(His612=) NC_000004.12:5793666:C:T Identity +NM_147127.5:c.96C>T NP_667338.3:p.Gly32= NC_000004.12:5708417:G:A p.(Gly32=) NC_000004.12:5708417:G:A p.(Gly32=) NC_000004.12:5708417:G:A Identity +NM_000245.4:c.1296T>C NP_000236.2:p.Gly432= NC_000007.14:116731762:T:C p.(Gly432=) NC_000007.14:116731762:T:C p.(Gly432=) NC_000007.14:116731762:T:C Identity +NM_001077399.3:c.180G>A NP_001070867.1:p.Leu60= NC_000002.12:218271492:G:A p.(Leu60=) NC_000002.12:218271492:G:A p.(Leu60=) NC_000002.12:218271492:G:A Identity +NM_001289067.2:c.837T>C NP_001275996.1:p.Pro279= NC_000010.11:94574684:T:C p.(Pro279=) NC_000010.11:94574684:T:C p.(Pro279=) NC_000010.11:94574684:T:C Identity +NM_001320867.2:c.507A>G NP_001307796.1:p.Glu169= NC_000019.10:43508829:T:C p.(Glu169=) NC_000019.10:43508829:T:C p.(Glu169=) NC_000019.10:43508829:T:C Identity +NM_015180.6:c.18834C>T NP_055995.4:p.Asp6278= NC_000014.9:64212070:C:T p.(Asp6278=) NC_000014.9:64212070:C:T p.(Asp6278=) NC_000014.9:64212070:C:T Identity +NM_000096.4:c.720C>T NP_000087.2:p.Cys240= NC_000003.12:149209271:G:A p.(Cys240=) NC_000003.12:149209271:G:A p.(Cys240=) NC_000003.12:149209271:G:A Identity +NM_001173479.2:c.735T>C NP_001166950.1:p.Ala245= NC_000023.11:63674067:A:G p.(Ala245=) NC_000023.11:63674067:A:G p.(Ala245=) NC_000023.11:63674067:A:G Identity +NM_001166111.2:c.3285C>T NP_001159583.1:p.Ala1095= NC_000019.10:7556698:C:T p.(Ala1095=) NC_000019.10:7556698:C:T p.(Ala1095=) NC_000019.10:7556698:C:T Identity +NM_004104.5:c.7158G>A NP_004095.4:p.Ala2386= NC_000017.11:82079596:C:T p.(Ala2386=) NC_000017.11:82079596:C:T p.(Ala2386=) NC_000017.11:82079596:C:T Identity +NM_001256959.2:c.30C>T NP_001243888.2:p.Cys10= NC_000001.11:11806291:C:T p.(Cys10=) NC_000001.11:11806291:C:T p.(Cys10=) NC_000001.11:11806291:C:T Identity +NM_001085487.3:c.2235A>T NP_001078956.1:p.Thr745= NC_000001.11:58661440:T:A p.(Thr745=) NC_000001.11:58661440:T:A p.(Thr745=) NC_000001.11:58661440:T:A Identity +NM_001171971.3:c.1032G>A NP_001165442.1:p.Val344= NC_000010.11:84208241:G:A p.(Val344=) NC_000010.11:84208241:G:A p.(Val344=) NC_000010.11:84208241:G:A Identity +NM_001018113.3:c.2241A>C NP_001018123.1:p.Leu747= NC_000023.11:14843905:T:G p.(Leu747=) NC_000023.11:14843905:T:G p.(Leu747=) NC_000023.11:14843905:T:G Identity +NM_001127182.2:c.204T>A NP_001120654.2:p.Ala68= NC_000010.11:93503132:T:A p.(Ala68=) NC_000010.11:93503132:T:A p.(Ala68=) NC_000010.11:93503132:T:A Identity +NM_000388.4:c.2565C>T NP_000379.3:p.Asn855= NC_000003.12:122284518:C:T p.(Asn855=) NC_000003.12:122284518:C:T p.(Asn855=) NC_000003.12:122284518:C:T Identity +NM_021922.3:c.405C>T NP_068741.1:p.Ala135= NC_000006.12:35455902:C:T p.(Ala135=) NC_000006.12:35455902:C:T p.(Ala135=) NC_000006.12:35455902:C:T Identity +NM_001082575.3:c.39G>A NP_001076044.1:p.Pro13= NC_000017.11:79115676:C:T p.(Pro13=) NC_000017.11:79115676:C:T p.(Pro13=) NC_000017.11:79115676:C:T Identity +NM_032043.3:c.3225A>G NP_114432.2:p.Ser1075= NC_000017.11:61683820:T:C p.(Ser1075=) NC_000017.11:61683820:T:C p.(Ser1075=) NC_000017.11:61683820:T:C Identity +NM_002838.5:c.492C>T NP_002829.3:p.Ser164= NC_000001.11:198702438:C:T p.(Ser164=) NC_000001.11:198702438:C:T p.(Ser164=) NC_000001.11:198702438:C:T Identity +NM_001365819.1:c.3078G>A NP_001352748.1:p.Ala1026= NC_000022.11:50460604:C:T p.(Ala1026=) NC_000022.11:50460604:C:T p.(Ala1026=) NC_000022.11:50460604:C:T Identity +NM_006361.6:c.231C>T NP_006352.2:p.Pro77= NC_000017.11:48728362:G:A p.(Pro77=) NC_000017.11:48728362:G:A p.(Pro77=) NC_000017.11:48728362:G:A Identity +NM_025219.3:c.297C>T NP_079495.1:p.Phe99= NC_000020.11:63929500:C:T p.(Phe99=) NC_000020.11:63929500:C:T p.(Phe99=) NC_000020.11:63929500:C:T Identity +NM_001203247.2:c.1794T>C NP_001190176.1:p.Asn598= NC_000007.14:148814000:A:G p.(Asn598=) NC_000007.14:148814000:A:G p.(Asn598=) NC_000007.14:148814000:A:G Identity +NM_001145472.3:c.804C>T NP_001138944.1:p.Gly268= NC_000018.10:46534409:G:A p.(Gly268=) NC_000018.10:46534409:G:A p.(Gly268=) NC_000018.10:46534409:G:A Identity +NM_001286577.2:c.6819C>T NP_001273506.1:p.Pro2273= NC_000011.10:74028388:G:A p.(Pro2273=) NC_000011.10:74028388:G:A p.(Pro2273=) NC_000011.10:74028388:G:A Identity +NM_002010.3:c.117G>A NP_002001.1:p.Gln39= NC_000013.11:21672028:G:A p.(Gln39=) NC_000013.11:21672028:G:A p.(Gln39=) NC_000013.11:21672028:G:A Identity +NM_001243835.2:c.294A>C NP_001230764.1:p.Pro98= NC_000002.12:191076304:T:G p.(Pro98=) NC_000002.12:191076304:T:G p.(Pro98=) NC_000002.12:191076304:T:G Identity +NM_001005242.3:c.597C>T NP_001005242.2:p.Ile199= NC_000012.12:32878282:G:A p.(Ile199=) NC_000012.12:32878282:G:A p.(Ile199=) NC_000012.12:32878282:G:A Identity +NM_001363746.1:c.456C>T NP_001350675.1:p.Thr152= NC_000009.12:136199024:G:A p.(Thr152=) NC_000009.12:136199024:G:A p.(Thr152=) NC_000009.12:136199024:G:A Identity +NM_001377156.1:c.2565C>G NP_001364085.1:p.Pro855= NC_000007.14:5622895:G:C p.(Pro855=) NC_000007.14:5622895:G:C p.(Pro855=) NC_000007.14:5622895:G:C Identity +NM_000158.4:c.1782T>C NP_000149.4:p.Tyr594= NC_000003.12:81536931:A:G p.(Tyr594=) NC_000003.12:81536931:A:G p.(Tyr594=) NC_000003.12:81536931:A:G Identity +NM_000028.3:c.1803T>A NP_000019.2:p.Val601= NC_000001.11:99880698:T:A p.(Val601=) NC_000001.11:99880698:T:A p.(Val601=) NC_000001.11:99880698:T:A Identity +NM_138694.4:c.1624T>C NP_619639.3:p.Leu542= NC_000006.12:52056766:A:G p.(Leu542=) NC_000006.12:52056766:A:G p.(Leu542=) NC_000006.12:52056766:A:G Identity +NM_000063.6:c.90C>A NP_000054.2:p.Ile30= NC_000006.12:31927997:C:A p.(Ile30=) NC_000006.12:31927997:C:A p.(Ile30=) NC_000006.12:31927997:C:A Identity +NM_001163817.2:c.1098G>A NP_001157289.1:p.Gly366= NC_000011.10:71435704:C:T p.(Gly366=) NC_000011.10:71435704:C:T p.(Gly366=) NC_000011.10:71435704:C:T Identity +NM_004104.5:c.7341C>T NP_004095.4:p.Arg2447= NC_000017.11:82079413:G:A p.(Arg2447=) NC_000017.11:82079413:G:A p.(Arg2447=) NC_000017.11:82079413:G:A Identity +NM_001171653.2:c.594C>T NP_001165124.1:p.Arg198= NC_000002.12:144404056:G:A p.(Arg198=) NC_000002.12:144404056:G:A p.(Arg198=) NC_000002.12:144404056:G:A Identity +NM_005413.4:c.882A>G NP_005404.1:p.Ala294= NC_000002.12:44944642:A:G p.(Ala294=) NC_000002.12:44944642:A:G p.(Ala294=) NC_000002.12:44944642:A:G Identity +NM_001024218.2:c.9C>T NP_001019389.1:p.Thr3= NC_000014.9:66508535:C:T p.(Thr3=) NC_000014.9:66508535:C:T p.(Thr3=) NC_000014.9:66508535:C:T Identity +NM_000066.4:c.72T>C NP_000057.3:p.Cys24= NC_000001.11:56965876:A:G p.(Cys24=) NC_000001.11:56965876:A:G p.(Cys24=) NC_000001.11:56965876:A:G Identity +NM_001144964.1:c.1773T>C NP_001138436.1:p.Phe591= NC_000018.10:58367817:T:C p.(Phe591=) NC_000018.10:58367817:T:C p.(Phe591=) NC_000018.10:58367817:T:C Identity +NM_001127487.2:c.6525G>A NP_001120959.1:p.Glu2175= NC_000007.14:128854112:G:A p.(Glu2175=) NC_000007.14:128854112:G:A p.(Glu2175=) NC_000007.14:128854112:G:A Identity +NM_000370.3:c.717C>T NP_000361.1:p.Asp239= NC_000008.11:63061371:G:A p.(Asp239=) NC_000008.11:63061371:G:A p.(Asp239=) NC_000008.11:63061371:G:A Identity +NM_001293306.2:c.2025C>T NP_001280235.2:p.Ile675= NC_000003.12:38742371:G:A p.(Ile675=) NC_000003.12:38742371:G:A p.(Ile675=) NC_000003.12:38742371:G:A Identity +NM_080679.3:c.1722C>T NP_542410.2:p.Pro574= NC_000006.12:33177018:G:A p.(Pro574=) NC_000006.12:33177018:G:A p.(Pro574=) NC_000006.12:33177018:G:A Identity +NM_000069.3:c.1536G>T NP_000060.2:p.Leu512= NC_000001.11:201077961:C:A p.(Leu512=) NC_000001.11:201077961:C:A p.(Leu512=) NC_000001.11:201077961:C:A Identity +NM_001278463.2:c.1689T>A NP_001265392.1:p.Gly563= NC_000012.12:32740077:T:A p.(Gly563=) NC_000012.12:32740077:T:A p.(Gly563=) NC_000012.12:32740077:T:A Identity +NM_001128227.3:c.252C>T NP_001121699.1:p.Asp84= NC_000009.12:36249196:G:A p.(Asp84=) NC_000009.12:36249196:G:A p.(Asp84=) NC_000009.12:36249196:G:A Identity +NM_152383.5:c.2154G>C NP_689596.4:p.Ala718= NC_000002.12:232333982:G:C p.(Ala718=) NC_000002.12:232333982:G:C p.(Ala718=) NC_000002.12:232333982:G:C Identity +NM_003742.4:c.1323C>T NP_003733.2:p.Leu441= NC_000002.12:168973825:G:A p.(Leu441=) NC_000002.12:168973825:G:A p.(Leu441=) NC_000002.12:168973825:G:A Identity +NM_001068.3:c.249T>C NP_001059.2:p.Asp83= NC_000003.12:25643760:A:G p.(Asp83=) NC_000003.12:25643760:A:G p.(Asp83=) NC_000003.12:25643760:A:G Identity +NM_000090.4:c.390G>T NP_000081.2:p.Gly130= NC_000002.12:188985720:G:T p.(Gly130=) NC_000002.12:188985720:G:T p.(Gly130=) NC_000002.12:188985720:G:T Identity +NM_001130991.3:c.459T>C NP_001124463.1:p.Val153= NC_000011.10:119055020:A:G p.(Val153=) NC_000011.10:119055020:A:G p.(Val153=) NC_000011.10:119055020:A:G Identity +NM_001363813.1:c.1278G>T NP_001350742.1:p.Leu426= NC_000017.11:65537757:C:A p.(Leu426=) NC_000017.11:65537757:C:A p.(Leu426=) NC_000017.11:65537757:C:A Identity +NM_030665.4:c.3744C>T NP_109590.3:p.Ser1248= NC_000017.11:17796691:C:T p.(Ser1248=) NC_000017.11:17796691:C:T p.(Ser1248=) NC_000017.11:17796691:C:T Identity +NM_020964.3:c.7212A>G NP_066015.2:p.Glu2404= NC_000018.10:45858579:T:C p.(Glu2404=) NC_000018.10:45858579:T:C p.(Glu2404=) NC_000018.10:45858579:T:C Identity +NM_001127207.2:c.60T>C NP_001120679.1:p.Ala20= NC_000002.12:216414763:T:C p.(Ala20=) NC_000002.12:216414763:T:C p.(Ala20=) NC_000002.12:216414763:T:C Identity +NM_003737.4:c.192C>A NP_003728.1:p.Ile64= NC_000011.10:6641421:G:T p.(Ile64=) NC_000011.10:6641421:G:T p.(Ile64=) NC_000011.10:6641421:G:T Identity +NM_001244189.2:c.1731A>G NP_001231118.1:p.Leu577= NC_000014.9:58457967:A:G p.(Leu577=) NC_000014.9:58457967:A:G p.(Leu577=) NC_000014.9:58457967:A:G Identity +NM_001257137.3:c.210A>G NP_001244066.1:p.Thr70= NC_000020.11:34408789:A:G p.(Thr70=) NC_000020.11:34408789:A:G p.(Thr70=) NC_000020.11:34408789:A:G Identity +NM_000481.4:c.585G>A NP_000472.2:p.Val195= NC_000003.12:49419370:C:T p.(Val195=) NC_000003.12:49419370:C:T p.(Val195=) NC_000003.12:49419370:C:T Identity +NM_000203.5:c.1257C>G NP_000194.2:p.Gly419= NC_000004.12:1002798:C:G p.(Gly419=) NC_000004.12:1002798:C:G p.(Gly419=) NC_000004.12:1002798:C:G Identity +NM_000302.4:c.498A>G NP_000293.2:p.Lys166= NC_000001.11:11952653:A:G p.(Lys166=) NC_000001.11:11952653:A:G p.(Lys166=) NC_000001.11:11952653:A:G Identity +NM_001127207.2:c.120C>T NP_001120679.1:p.Thr40= NC_000002.12:216414823:C:T p.(Thr40=) NC_000002.12:216414823:C:T p.(Thr40=) NC_000002.12:216414823:C:T Identity +NM_000199.5:c.1404G>A NP_000190.1:p.Leu468= NC_000017.11:80210556:C:T p.(Leu468=) NC_000017.11:80210556:C:T p.(Leu468=) NC_000017.11:80210556:C:T Identity +NM_003124.5:c.414C>T NP_003115.1:p.Val138= NC_000002.12:72888422:C:T p.(Val138=) NC_000002.12:72888422:C:T p.(Val138=) NC_000002.12:72888422:C:T Identity +NM_018210.4:c.1011G>A NP_060680.2:p.Leu337= NC_000013.11:110638358:G:A p.(Leu337=) NC_000013.11:110638358:G:A p.(Leu337=) NC_000013.11:110638358:G:A Identity +NM_001083962.2:c.1023T>C NP_001077431.1:p.Phe341= NC_000018.10:55259994:A:G p.(Phe341=) NC_000018.10:55259994:A:G p.(Phe341=) NC_000018.10:55259994:A:G Identity +NM_000739.3:c.954G>A NP_000730.1:p.Glu318= NC_000007.14:137015818:G:A p.(Glu318=) NC_000007.14:137015818:G:A p.(Glu318=) NC_000007.14:137015818:G:A Identity +NM_005560.6:c.5748C>G NP_005551.3:p.Pro1916= NC_000020.11:62324099:G:C p.(Pro1916=) NC_000020.11:62324099:G:C p.(Pro1916=) NC_000020.11:62324099:G:C Identity +NM_000053.4:c.1710C>T NP_000044.2:p.Ile570= NC_000013.11:51965030:G:A p.(Ile570=) NC_000013.11:51965030:G:A p.(Ile570=) NC_000013.11:51965030:G:A Identity +NM_005188.4:c.2292C>T NP_005179.2:p.Pro764= NC_000011.10:119298397:C:T p.(Pro764=) NC_000011.10:119298397:C:T p.(Pro764=) NC_000011.10:119298397:C:T Identity +NM_015243.3:c.1704A>T NP_056058.2:p.Thr568= NC_000008.11:99143025:A:T p.(Thr568=) NC_000008.11:99143025:A:T p.(Thr568=) NC_000008.11:99143025:A:T Identity +NM_000038.6:c.3441C>T NP_000029.2:p.Tyr1147= NC_000005.10:112839034:C:T p.(Tyr1147=) NC_000005.10:112839034:C:T p.(Tyr1147=) NC_000005.10:112839034:C:T Identity +NM_001347827.2:c.498G>A NP_001334756.1:p.Gly166= NC_000004.12:54263796:G:A p.(Gly166=) NC_000004.12:54263796:G:A p.(Gly166=) NC_000004.12:54263796:G:A Identity +NM_000057.4:c.1374T>G NP_000048.1:p.Leu458= NC_000015.10:90760746:T:G p.(Leu458=) NC_000015.10:90760746:T:G p.(Leu458=) NC_000015.10:90760746:T:G Identity +NM_024652.6:c.1776G>A NP_078928.3:p.Gly592= NC_000015.10:101021880:G:A p.(Gly592=) NC_000015.10:101021880:G:A p.(Gly592=) NC_000015.10:101021880:G:A Identity +NM_001126131.2:c.2937T>C NP_001119603.1:p.Ala979= NC_000015.10:89320809:A:G p.(Ala979=) NC_000015.10:89320809:A:G p.(Ala979=) NC_000015.10:89320809:A:G Identity +NM_000639.3:c.666G>A NP_000630.1:p.Leu222= NC_000001.11:172665835:G:A p.(Leu222=) NC_000001.11:172665835:G:A p.(Leu222=) NC_000001.11:172665835:G:A Identity +NM_000489.6:c.5811G>A NP_000480.3:p.Gly1937= NC_000023.11:77599555:C:T p.(Gly1937=) NC_000023.11:77599555:C:T p.(Gly1937=) NC_000023.11:77599555:C:T Identity +NM_003280.3:c.327T>C NP_003271.1:p.Asp109= NC_000003.12:52451517:A:G p.(Asp109=) NC_000003.12:52451517:A:G p.(Asp109=) NC_000003.12:52451517:A:G Identity +NM_001034116.2:c.36G>A NP_001029288.1:p.Ser12= NC_000002.12:27369914:C:T p.(Ser12=) NC_000002.12:27369914:C:T p.(Ser12=) NC_000002.12:27369914:C:T Identity +NM_000404.4:c.597C>T NP_000395.3:p.Tyr199= NC_000003.12:33058224:G:A p.(Tyr199=) NC_000003.12:33058224:G:A p.(Tyr199=) NC_000003.12:33058224:G:A Identity +NM_001306079.2:c.3007A>C NP_001293008.1:p.Arg1003= NC_000002.12:27233515:A:C p.(Arg1003=) NC_000002.12:27233515:A:C p.(Arg1003=) NC_000002.12:27233515:A:C Identity +NM_000195.5:c.969C>T NP_000186.2:p.Pro323= NC_000010.11:98427232:G:A p.(Pro323=) NC_000010.11:98427232:G:A p.(Pro323=) NC_000010.11:98427232:G:A Identity +NM_001385060.1:c.2355A>G NP_001371989.1:p.Gln785= NC_000003.12:151447625:T:C p.(Gln785=) NC_000003.12:151447625:T:C p.(Gln785=) NC_000003.12:151447625:T:C Identity +NM_001114937.3:c.228T>C NP_001108409.1:p.Tyr76= NC_000023.11:124370201:T:C p.(Tyr76=) NC_000023.11:124370201:T:C p.(Tyr76=) NC_000023.11:124370201:T:C Identity +NM_013382.7:c.1029C>T NP_037514.2:p.Ile343= NC_000014.9:77296250:G:A p.(Ile343=) NC_000014.9:77296250:G:A p.(Ile343=) NC_000014.9:77296250:G:A Identity +NM_020247.5:c.696C>T NP_064632.2:p.Val232= NC_000001.11:226977488:C:T p.(Val232=) NC_000001.11:226977488:C:T p.(Val232=) NC_000001.11:226977488:C:T Identity +NM_000057.4:c.2583T>C NP_000048.1:p.Asn861= NC_000015.10:90782848:T:C p.(Asn861=) NC_000015.10:90782848:T:C p.(Asn861=) NC_000015.10:90782848:T:C Identity +NM_001304482.2:c.3225G>A NP_001291411.1:p.Ala1075= NC_000003.12:47411400:G:A p.(Ala1075=) NC_000003.12:47411400:G:A p.(Ala1075=) NC_000003.12:47411400:G:A Identity +NM_000059.4:c.5961G>A NP_000050.3:p.Gln1987= NC_000013.11:32340315:G:A p.(Gln1987=) NC_000013.11:32340315:G:A p.(Gln1987=) NC_000013.11:32340315:G:A Identity +NM_001161779.2:c.1065A>G NP_001155251.1:p.Pro355= NC_000008.11:93923048:A:G p.(Pro355=) NC_000008.11:93923048:A:G p.(Pro355=) NC_000008.11:93923048:A:G Identity +NM_001001557.4:c.528C>T NP_001001557.1:p.Pro176= NC_000008.11:96145402:G:A p.(Pro176=) NC_000008.11:96145402:G:A p.(Pro176=) NC_000008.11:96145402:G:A Identity +NM_017841.4:c.132A>G NP_060311.1:p.Gln44= NC_000011.10:61437719:A:G p.(Gln44=) NC_000011.10:61437719:A:G p.(Gln44=) NC_000011.10:61437719:A:G Identity +NM_014014.5:c.4527C>T NP_054733.2:p.Thr1509= NC_000002.12:96283869:G:A p.(Thr1509=) NC_000002.12:96283869:G:A p.(Thr1509=) NC_000002.12:96283869:G:A Identity +NM_001005242.3:c.1383G>A NP_001005242.2:p.Leu461= NC_000012.12:32841200:C:T p.(Leu461=) NC_000012.12:32841200:C:T p.(Leu461=) NC_000012.12:32841200:C:T Identity +NM_001041.4:c.5385G>A NP_001032.2:p.Ser1795= NC_000003.12:164982272:C:T p.(Ser1795=) NC_000003.12:164982272:C:T p.(Ser1795=) NC_000003.12:164982272:C:T Identity +NM_001347828.2:c.2451A>G NP_001334757.1:p.Leu817= NC_000004.12:54285422:A:G p.(Leu817=) NC_000004.12:54285422:A:G p.(Leu817=) NC_000004.12:54285422:A:G Identity +NM_001306090.2:c.603G>A NP_001293019.1:p.Val201= NC_000004.12:5731642:G:A p.(Val201=) NC_000004.12:5731642:G:A p.(Val201=) NC_000004.12:5731642:G:A Identity +NM_000323.2:c.2325G>A NP_000314.1:p.Glu775= NC_000010.11:43118412:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000359.3:c.954A>T NP_000350.1:p.Pro318= NC_000014.9:24259733:T:A p.(Pro318=) NC_000014.9:24259733:T:A p.(Pro318=) NC_000014.9:24259733:T:A Identity +NM_001256959.2:c.24G>A NP_001243888.2:p.Leu8= NC_000001.11:11806285:G:A p.(Leu8=) NC_000001.11:11806285:G:A p.(Leu8=) NC_000001.11:11806285:G:A Identity +NM_001723.7:c.4341A>G NP_001714.1:p.Gln1447= NC_000006.12:56619692:T:C p.(Gln1447=) NC_000006.12:56619692:T:C p.(Gln1447=) NC_000006.12:56619692:T:C Identity +NM_170606.3:c.1536T>C NP_733751.2:p.Tyr512= NC_000007.14:152252023:A:G p.(Tyr512=) NC_000007.14:152252023:A:G p.(Tyr512=) NC_000007.14:152252023:A:G Identity +NM_001135649.3:c.160C>T NP_001129121.1:p.Leu54= NC_000002.12:88452375:G:A p.(Leu54=) NC_000002.12:88452375:G:A p.(Leu54=) NC_000002.12:88452375:G:A Identity +NM_001410805.1:c.1272G>A NP_001397734.1:p.Leu424= NC_000003.12:128910097:G:A p.(Leu424=) NC_000003.12:128910097:G:A p.(Leu424=) NC_000003.12:128910097:G:A Identity +NM_002180.3:c.891G>A NP_002171.2:p.Arg297= NC_000011.10:68915001:G:A p.(Arg297=) NC_000011.10:68915001:G:A p.(Arg297=) NC_000011.10:68915001:G:A Identity +NM_001375644.1:c.663A>G NP_001362573.1:p.Thr221= NC_000004.12:145646085:A:G p.(Thr221=) NC_000004.12:145646085:A:G p.(Thr221=) NC_000004.12:145646085:A:G Identity +NM_001199397.3:c.2193C>T NP_001186326.1:p.Asn731= NC_000004.12:169477443:G:A p.(Asn731=) NC_000004.12:169477443:G:A p.(Asn731=) NC_000004.12:169477443:G:A Identity +NM_001135999.2:c.1884T>C NP_001129471.2:p.Ser628= NC_000009.12:35548404:T:C p.(Ser628=) NC_000009.12:35548404:T:C p.(Ser628=) NC_000009.12:35548404:T:C Identity +NM_001365999.1:c.246A>G NP_001352928.1:p.Val82= NC_000001.11:43403692:A:G p.(Val82=) NC_000001.11:43403692:A:G p.(Val82=) NC_000001.11:43403692:A:G Identity +NM_000271.5:c.399T>C NP_000262.2:p.Val133= NC_000018.10:23568886:A:G p.(Val133=) NC_000018.10:23568886:A:G p.(Val133=) NC_000018.10:23568886:A:G Identity +NM_001303256.3:c.2466G>A NP_001290185.1:p.Val822= NC_000022.11:30932944:C:T p.(Val822=) NC_000022.11:30932944:C:T p.(Val822=) NC_000022.11:30932944:C:T Identity +NM_001031681.3:c.721C>T NP_001026851.2:p.Leu241= NC_000017.11:3658043:C:T p.(Leu241=) NC_000017.11:3658043:C:T p.(Leu241=) NC_000017.11:3658043:C:T Identity +NM_001385197.1:c.3096C>T NP_001372126.1:p.Asp1032= NC_000019.10:10353029:G:A p.(Asp1032=) NC_000019.10:10353029:G:A p.(Asp1032=) NC_000019.10:10353029:G:A Identity +NM_001190709.2:c.4929A>G NP_001177638.1:p.Ser1643= NC_000001.11:102879910:T:C p.(Ser1643=) NC_000001.11:102879910:T:C p.(Ser1643=) NC_000001.11:102879910:T:C Identity +NM_021939.4:c.42C>T NP_068758.3:p.Leu14= NC_000017.11:41813075:C:T p.(Leu14=) NC_000017.11:41813075:C:T p.(Leu14=) NC_000017.11:41813075:C:T Identity +NM_001308093.3:c.441G>A NP_001295022.1:p.Glu147= NC_000008.11:11708752:G:A p.(Glu147=) NC_000008.11:11708752:G:A p.(Glu147=) NC_000008.11:11708752:G:A Identity +NM_001288607.2:c.2727T>C NP_001275536.1:p.Thr909= NC_000001.11:150559366:T:C p.(Thr909=) NC_000001.11:150559366:T:C p.(Thr909=) NC_000001.11:150559366:T:C Identity +NM_001363520.3:c.531A>G NP_001350449.1:p.Ala177= NC_000004.12:127942066:T:C p.(Ala177=) NC_000004.12:127942066:T:C p.(Ala177=) NC_000004.12:127942066:T:C Identity +NM_000828.5:c.444T>G NP_000819.4:p.Ala148= NC_000023.11:123253477:T:G p.(Ala148=) NC_000023.11:123253477:T:G p.(Ala148=) NC_000023.11:123253477:T:G Identity +NM_001149.4:c.1125T>C NP_001140.2:p.Asn375= NC_000010.11:60086701:A:G p.(Asn375=) NC_000010.11:60086701:A:G p.(Asn375=) NC_000010.11:60086701:A:G Identity +NM_000574.5:c.1047T>C NP_000565.1:p.Ser349= NC_000001.11:207337395:T:C p.(Ser349=) NC_000001.11:207337395:T:C p.(Ser349=) NC_000001.11:207337395:T:C Identity +NM_000081.4:c.9288A>G NP_000072.2:p.Thr3096= NC_000001.11:235724054:T:C p.(Thr3096=) NC_000001.11:235724054:T:C p.(Thr3096=) NC_000001.11:235724054:T:C Identity +NM_031935.3:c.12918T>C NP_114141.2:p.Ser4306= NC_000001.11:186129978:T:C p.(Ser4306=) NC_000001.11:186129978:T:C p.(Ser4306=) NC_000001.11:186129978:T:C Identity +NM_001166292.2:c.2991G>A NP_001159764.1:p.Ala997= NC_000001.11:44826372:C:T p.(Ala997=) NC_000001.11:44826372:C:T p.(Ala997=) NC_000001.11:44826372:C:T Identity +NM_001127178.3:c.2649C>T NP_001120650.1:p.Ala883= NC_000004.12:533894:C:T p.(Ala883=) NC_000004.12:533894:C:T p.(Ala883=) NC_000004.12:533894:C:T Identity +NM_000081.4:c.297G>A NP_000072.2:p.Pro99= NC_000001.11:235810520:C:T p.(Pro99=) NC_000001.11:235810520:C:T p.(Pro99=) NC_000001.11:235810520:C:T Identity +NM_001134363.3:c.1332T>C NP_001127835.2:p.Ser444= NC_000010.11:110783421:T:C p.(Ser444=) NC_000010.11:110783421:T:C p.(Ser444=) NC_000010.11:110783421:T:C Identity +NM_001089.3:c.2148C>T NP_001080.2:p.Ile716= NC_000016.10:2297443:G:A p.(Ile716=) NC_000016.10:2297443:G:A p.(Ile716=) NC_000016.10:2297443:G:A Identity +NM_000112.4:c.1023A>G NP_000103.2:p.Val341= NC_000005.10:149980615:A:G p.(Val341=) NC_000005.10:149980615:A:G p.(Val341=) NC_000005.10:149980615:A:G Identity +NM_019109.5:c.162G>T NP_061982.3:p.Leu54= NC_000016.10:5072010:G:T p.(Leu54=) NC_000016.10:5072010:G:T p.(Leu54=) NC_000016.10:5072010:G:T Identity +NM_002292.4:c.228C>T NP_002283.3:p.Tyr76= NC_000003.12:49132511:G:A p.(Tyr76=) NC_000003.12:49132511:G:A p.(Tyr76=) NC_000003.12:49132511:G:A Identity +NM_001143805.1:c.273G>A NP_001137277.1:p.Thr91= NC_000011.10:27658291:C:T p.(Thr91=) NC_000011.10:27658291:C:T p.(Thr91=) NC_000011.10:27658291:C:T Identity +NM_013444.4:c.1011C>T NP_038472.2:p.Ser337= NC_000023.11:56564883:C:T p.(Ser337=) NC_000023.11:56564883:C:T p.(Ser337=) NC_000023.11:56564883:C:T Identity +NM_138694.4:c.2095C>T NP_619639.3:p.Leu699= NC_000006.12:52053120:G:A p.(Leu699=) NC_000006.12:52053120:G:A p.(Leu699=) NC_000006.12:52053120:G:A Identity +NM_000440.3:c.2412C>T NP_000431.2:p.Asn804= NC_000005.10:149863212:G:A p.(Asn804=) NC_000005.10:149863212:G:A p.(Asn804=) NC_000005.10:149863212:G:A Identity +NM_001378120.1:c.2115A>G NP_001365049.1:p.Leu705= NC_000002.12:148470057:A:G p.(Leu705=) NC_000002.12:148470057:A:G p.(Leu705=) NC_000002.12:148470057:A:G Identity +NM_001378454.1:c.9267T>C NP_001365383.1:p.Thr3089= NC_000002.12:73491225:T:C p.(Thr3089=) NC_000002.12:73491225:T:C p.(Thr3089=) NC_000002.12:73491225:T:C Identity +NM_001165928.4:c.1218C>A NP_001159400.3:p.Thr406= NC_000003.12:49531728:C:A p.(Thr406=) NC_000003.12:49531728:C:A p.(Thr406=) NC_000003.12:49531728:C:A Identity +NM_001190992.2:c.1413A>G NP_001177921.1:p.Val471= NC_000003.12:155829756:T:C p.(Val471=) NC_000003.12:155829756:T:C p.(Val471=) NC_000003.12:155829756:T:C Identity +NM_001369512.1:c.1425G>A NP_001356441.1:p.Ala475= NC_000017.11:42325001:C:T p.(Ala475=) NC_000017.11:42325001:C:T p.(Ala475=) NC_000017.11:42325001:C:T Identity +NM_001375291.1:c.3555T>C NP_001362220.1:p.Ser1185= NC_000009.12:96004581:T:C p.(Ser1185=) NC_000009.12:96004581:T:C p.(Ser1185=) NC_000009.12:96004581:T:C Identity +NM_001386500.1:c.2523G>T NP_001373429.1:p.Leu841= NC_000001.11:11231425:C:A p.(Leu841=) NC_000001.11:11231425:C:A p.(Leu841=) NC_000001.11:11231425:C:A Identity +NM_001195248.2:c.834T>C NP_001182177.2:p.His278= NC_000009.12:32974497:A:G p.(His278=) NC_000009.12:32974497:A:G p.(His278=) NC_000009.12:32974497:A:G Identity +NM_001130144.3:c.3603C>T NP_001123616.1:p.Pro1201= NC_000011.10:65539572:G:A p.(Pro1201=) NC_000011.10:65539572:G:A p.(Pro1201=) NC_000011.10:65539572:G:A Identity +NM_001369512.1:c.528T>C NP_001356441.1:p.Tyr176= NC_000017.11:42338752:A:G p.(Tyr176=) NC_000017.11:42338752:A:G p.(Tyr176=) NC_000017.11:42338752:A:G Identity +NM_001353765.2:c.414C>T NP_001340694.1:p.Ser138= NC_000002.12:29220732:G:A p.(Ser138=) NC_000002.12:29220732:G:A p.(Ser138=) NC_000002.12:29220732:G:A Identity +NM_000404.4:c.624C>T NP_000395.3:p.Arg208= NC_000003.12:33058197:G:A p.(Arg208=) NC_000003.12:33058197:G:A p.(Arg208=) NC_000003.12:33058197:G:A Identity +NM_001127207.2:c.1029C>T NP_001120679.1:p.Phe343= NC_000002.12:216420464:C:T p.(Phe343=) NC_000002.12:216420464:C:T p.(Phe343=) NC_000002.12:216420464:C:T Identity +NM_000346.4:c.1281C>T NP_000337.1:p.His427= NC_000017.11:72124137:C:T p.(His427=) NC_000017.11:72124137:C:T p.(His427=) NC_000017.11:72124137:C:T Identity +NM_001193640.2:c.1593C>G NP_001180569.1:p.Leu531= NC_000001.11:197421756:C:G p.(Leu531=) NC_000001.11:197421756:C:G p.(Leu531=) NC_000001.11:197421756:C:G Identity +NM_001384732.1:c.3333A>G NP_001371661.1:p.Val1111= NC_000005.10:37201764:T:C p.(Val1111=) NC_000005.10:37201764:T:C p.(Val1111=) NC_000005.10:37201764:T:C Identity +NM_001130066.2:c.1977C>T NP_001123538.1:p.Ser659= NC_000006.12:33441235:C:T p.(Ser659=) NC_000006.12:33441235:C:T p.(Ser659=) NC_000006.12:33441235:C:T Identity +NM_000111.3:c.750A>T NP_000102.1:p.Val250= NC_000007.14:107787494:T:A p.(Val250=) NC_000007.14:107787494:T:A p.(Val250=) NC_000007.14:107787494:T:A Identity +NM_001371986.1:c.8811C>T NP_001358915.1:p.Ser2937= NC_000002.12:209976950:C:T p.(Ser2937=) NC_000002.12:209976950:C:T p.(Ser2937=) NC_000002.12:209976950:C:T Identity +NM_000039.3:c.789G>A NP_000030.1:p.Lys263= NC_000011.10:116835822:C:T p.(Lys263=) NC_000011.10:116835822:C:T p.(Lys263=) NC_000011.10:116835822:C:T Identity +NM_001006657.2:c.946C>T NP_001006658.1:p.Leu316= NC_000002.12:19969541:G:A p.(Leu316=) NC_000002.12:19969541:G:A p.(Leu316=) NC_000002.12:19969541:G:A Identity +NM_001160302.2:c.684C>T NP_001153774.1:p.Ala228= NC_000021.9:32695077:G:A p.(Ala228=) NC_000021.9:32695077:G:A p.(Ala228=) NC_000021.9:32695077:G:A Identity +NM_001077397.1:c.1608G>A NP_001070865.1:p.Gly536= NC_000001.11:234607244:C:T p.(Gly536=) NC_000001.11:234607244:C:T p.(Gly536=) NC_000001.11:234607244:C:T Identity +NM_000760.4:c.1686C>T NP_000751.1:p.Tyr562= NC_000001.11:36468111:G:A p.(Tyr562=) NC_000001.11:36468111:G:A p.(Tyr562=) NC_000001.11:36468111:G:A Identity +NM_000492.4:c.2142G>T NP_000483.3:p.Val714= NC_000007.14:117592308:G:T p.(Val714=) NC_000007.14:117592308:G:T p.(Val714=) NC_000007.14:117592308:G:T Identity +NM_000720.4:c.3873G>A NP_000711.1:p.Thr1291= NC_000003.12:53762023:G:A p.(Thr1291=) NC_000003.12:53762023:G:A p.(Thr1291=) NC_000003.12:53762023:G:A Identity +NM_199242.3:c.1425G>A NP_954712.1:p.Gln475= NC_000017.11:75836220:C:T p.(Gln475=) NC_000017.11:75836220:C:T p.(Gln475=) NC_000017.11:75836220:C:T Identity +NM_001031847.3:c.945C>G NP_001027017.1:p.Ser315= NC_000011.10:68793336:G:C p.(Ser315=) NC_000011.10:68793336:G:C p.(Ser315=) NC_000011.10:68793336:G:C Identity +NM_001256213.2:c.2913C>T NP_001243142.1:p.Tyr971= NC_000019.10:41967702:G:A p.(Tyr971=) NC_000019.10:41967702:G:A p.(Tyr971=) NC_000019.10:41967702:G:A Identity +NM_001018088.3:c.4926C>T NP_001018098.1:p.Ala1642= NC_000015.10:61946360:G:A p.(Ala1642=) NC_000015.10:61946360:G:A p.(Ala1642=) NC_000015.10:61946360:G:A Identity +NM_013444.4:c.1734A>G NP_038472.2:p.Pro578= NC_000023.11:56565606:A:G p.(Pro578=) NC_000023.11:56565606:A:G p.(Pro578=) NC_000023.11:56565606:A:G Identity +NM_139058.3:c.1326G>A NP_620689.1:p.Pro442= NC_000023.11:25007232:C:T p.(Pro442=) NC_000023.11:25007232:C:T p.(Pro442=) NC_000023.11:25007232:C:T Identity +NM_000489.6:c.6252C>T NP_000480.3:p.Tyr2084= NC_000023.11:77574323:G:A p.(Tyr2084=) NC_000023.11:77574323:G:A p.(Tyr2084=) NC_000023.11:77574323:G:A Identity +NM_001385110.1:c.2370G>A NP_001372039.1:p.Glu790= NC_000012.12:56343834:C:T p.(Glu790=) NC_000012.12:56343834:C:T p.(Glu790=) NC_000012.12:56343834:C:T Identity +NM_001172417.1:c.666G>A NP_001165888.1:p.Leu222= NC_000002.12:232768367:C:T p.(Leu222=) NC_000002.12:232768367:C:T p.(Leu222=) NC_000002.12:232768367:C:T Identity +NM_005876.5:c.2133C>T NP_005867.3:p.Tyr711= NC_000002.12:219451154:C:T p.(Tyr711=) NC_000002.12:219451154:C:T p.(Tyr711=) NC_000002.12:219451154:C:T Identity +NM_001256850.1:c.41211T>C NP_001243779.1:p.Asp13737= NC_000002.12:178620386:A:G p.(Asp13737=) NC_000002.12:178620386:A:G p.(Asp13737=) NC_000002.12:178620386:A:G Identity +NM_006767.4:c.927C>T NP_006758.2:p.Asn309= NC_000022.11:20991762:C:T p.(Asn309=) NC_000022.11:20991762:C:T p.(Asn309=) NC_000022.11:20991762:C:T Identity +NM_015662.3:c.1092A>G NP_056477.1:p.Gly364= NC_000002.12:27478069:T:C p.(Gly364=) NC_000002.12:27478069:T:C p.(Gly364=) NC_000002.12:27478069:T:C Identity +NM_006015.6:c.582C>T NP_006006.3:p.Pro194= NC_000001.11:26696984:C:T p.(Pro194=) NC_000001.11:26696984:C:T p.(Pro194=) NC_000001.11:26696984:C:T Identity +NM_001244580.2:c.10023A>G NP_001231509.1:p.Gln3341= NC_000007.14:98994603:A:G p.(Gln3341=) NC_000007.14:98994603:A:G p.(Gln3341=) NC_000007.14:98994603:A:G Identity +NM_001127396.3:c.870C>T NP_001120868.1:p.His290= NC_000019.10:7642512:C:T p.(His290=) NC_000019.10:7642512:C:T p.(His290=) NC_000019.10:7642512:C:T Identity +NM_000070.3:c.798T>C NP_000061.1:p.Ile266= NC_000015.10:42389092:T:C p.(Ile266=) NC_000015.10:42389092:T:C p.(Ile266=) NC_000015.10:42389092:T:C Identity +NM_000028.3:c.324T>C NP_000019.2:p.Val108= NC_000001.11:99862286:T:C p.(Val108=) NC_000001.11:99862286:T:C p.(Val108=) NC_000001.11:99862286:T:C Identity +NM_001384165.1:c.135G>A NP_001371094.1:p.Ser45= NC_000017.11:44075031:G:A p.(Ser45=) NC_000017.11:44075031:G:A p.(Ser45=) NC_000017.11:44075031:G:A Identity +NM_001363518.2:c.888C>T NP_001350447.1:p.Pro296= NC_000010.11:71362301:C:T p.(Pro296=) NC_000010.11:71362301:C:T p.(Pro296=) NC_000010.11:71362301:C:T Identity +NM_001082575.3:c.873C>T NP_001076044.1:p.Tyr291= NC_000017.11:79094513:G:A p.(Tyr291=) NC_000017.11:79094513:G:A p.(Tyr291=) NC_000017.11:79094513:G:A Identity +NM_000070.3:c.2364G>A NP_000061.1:p.Arg788= NC_000015.10:42410983:G:A p.(Arg788=) NC_000015.10:42410983:G:A p.(Arg788=) NC_000015.10:42410983:G:A Identity +NM_021076.4:c.153A>G NP_066554.2:p.Thr51= NC_000022.11:29480414:A:G p.(Thr51=) NC_000022.11:29480414:A:G p.(Thr51=) NC_000022.11:29480414:A:G Identity +NM_001144769.5:c.12075A>G NP_001138241.1:p.Glu4025= NC_000006.12:56515593:T:C p.(Glu4025=) NC_000006.12:56515593:T:C p.(Glu4025=) NC_000006.12:56515593:T:C Identity +NM_001157.3:c.1311G>A NP_001148.1:p.Ala437= NC_000010.11:80157990:C:T p.(Ala437=) NC_000010.11:80157990:C:T p.(Ala437=) NC_000010.11:80157990:C:T Identity +NM_001276479.2:c.1470C>T NP_001263408.1:p.Asp490= NC_000019.10:5699049:G:A p.(Asp490=) NC_000019.10:5699049:G:A p.(Asp490=) NC_000019.10:5699049:G:A Identity +NM_001105540.2:c.1308C>T NP_001099010.1:p.Arg436= NC_000011.10:46371587:C:T p.(Arg436=) NC_000011.10:46371587:C:T p.(Arg436=) NC_000011.10:46371587:C:T Identity +NM_014510.3:c.6093A>G NP_055325.2:p.Ser2031= NC_000007.14:82954859:T:C p.(Ser2031=) NC_000007.14:82954859:T:C p.(Ser2031=) NC_000007.14:82954859:T:C Identity +NM_006755.2:c.375C>T NP_006746.1:p.Leu125= NC_000011.10:760166:C:T p.(Leu125=) NC_000011.10:760166:C:T p.(Leu125=) NC_000011.10:760166:C:T Identity +NM_000143.4:c.183G>A NP_000134.2:p.Lys61= NC_000001.11:241517265:C:T p.(Lys61=) NC_000001.11:241517265:C:T p.(Lys61=) NC_000001.11:241517265:C:T Identity +NM_001258392.3:c.1312C>T NP_001245321.1:p.Leu438= NC_000011.10:72301819:G:A p.(Leu438=) NC_000011.10:72301819:G:A p.(Leu438=) NC_000011.10:72301819:G:A Identity +NM_001165966.2:c.2427C>T NP_001159438.1:p.Ile809= NC_000017.11:6457677:G:A p.(Ile809=) NC_000017.11:6457677:G:A p.(Ile809=) NC_000017.11:6457677:G:A Identity +NM_001103.4:c.472C>T NP_001094.1:p.Leu158= NC_000001.11:236725955:C:T p.(Leu158=) NC_000001.11:236725955:C:T p.(Leu158=) NC_000001.11:236725955:C:T Identity +NM_000489.6:c.6933C>T NP_000480.3:p.Phe2311= NC_000023.11:77522304:G:A p.(Phe2311=) NC_000023.11:77522304:G:A p.(Phe2311=) NC_000023.11:77522304:G:A Identity +NM_000091.5:c.69G>C NP_000082.2:p.Ala23= NC_000002.12:227164794:G:C p.(Ala23=) NC_000002.12:227164794:G:C p.(Ala23=) NC_000002.12:227164794:G:C Identity +NM_005914.4:c.1134C>T NP_005905.2:p.Leu378= NC_000008.11:47967444:C:T p.(Leu378=) NC_000008.11:47967444:C:T p.(Leu378=) NC_000008.11:47967444:C:T Identity +NM_000081.4:c.9171G>A NP_000072.2:p.Gln3057= NC_000001.11:235724171:C:T p.(Gln3057=) NC_000001.11:235724171:C:T p.(Gln3057=) NC_000001.11:235724171:C:T Identity +NM_000447.3:c.1269G>A NP_000438.2:p.Gly423= NC_000001.11:226895500:G:A p.(Gly423=) NC_000001.11:226895500:G:A p.(Gly423=) NC_000001.11:226895500:G:A Identity +NM_001378454.1:c.3525T>C NP_001365383.1:p.Thr1175= NC_000002.12:73450051:T:C p.(Thr1175=) NC_000002.12:73450051:T:C p.(Thr1175=) NC_000002.12:73450051:T:C Identity +NM_000721.4:c.2682G>A NP_000712.2:p.Pro894= NC_000001.11:181732767:G:A p.(Pro894=) NC_000001.11:181732767:G:A p.(Pro894=) NC_000001.11:181732767:G:A Identity +NM_000528.4:c.1008C>A NP_000519.2:p.Ile336= NC_000019.10:12661277:G:T p.(Ile336=) NC_000019.10:12661277:G:T p.(Ile336=) NC_000019.10:12661277:G:T Identity +NM_014244.5:c.1086C>T NP_055059.2:p.His362= NC_000005.10:179158768:G:A p.(His362=) NC_000005.10:179158768:G:A p.(His362=) NC_000005.10:179158768:G:A Identity +NM_000400.4:c.702C>T NP_000391.1:p.Asp234= NC_000019.10:45364439:G:A p.(Asp234=) NC_000019.10:45364439:G:A p.(Asp234=) NC_000019.10:45364439:G:A Identity +NM_001145715.3:c.717G>A NP_001139187.1:p.Val239= NC_000007.14:99188482:C:T p.(Val239=) NC_000007.14:99188482:C:T p.(Val239=) NC_000007.14:99188482:C:T Identity +NM_001363767.1:c.405C>T NP_001350696.1:p.Tyr135= NC_000009.12:916818:C:T p.(Tyr135=) NC_000009.12:916818:C:T p.(Tyr135=) NC_000009.12:916818:C:T Identity +NM_032043.3:c.1011A>C NP_114432.2:p.Ile337= NC_000017.11:61801381:T:G p.(Ile337=) NC_000017.11:61801381:T:G p.(Ile337=) NC_000017.11:61801381:T:G Identity +NM_013444.4:c.915G>C NP_038472.2:p.Thr305= NC_000023.11:56564787:G:C p.(Thr305=) NC_000023.11:56564787:G:C p.(Thr305=) NC_000023.11:56564787:G:C Identity +NM_001385207.1:c.3261G>A NP_001372136.1:p.Glu1087= NC_000019.10:10352472:C:T p.(Glu1087=) NC_000019.10:10352472:C:T p.(Glu1087=) NC_000019.10:10352472:C:T Identity +NM_001164688.2:c.450G>A NP_001158160.1:p.Leu150= NC_000001.11:211479173:C:T p.(Leu150=) NC_000001.11:211479173:C:T p.(Leu150=) NC_000001.11:211479173:C:T Identity +NM_001288607.2:c.2319G>A NP_001275536.1:p.Gly773= NC_000001.11:150558525:G:A p.(Gly773=) NC_000001.11:150558525:G:A p.(Gly773=) NC_000001.11:150558525:G:A Identity +NM_001128617.3:c.486C>T NP_001122089.1:p.Ser162= NC_000006.12:138945360:G:A p.(Ser162=) NC_000006.12:138945360:G:A p.(Ser162=) NC_000006.12:138945360:G:A Identity +NM_000253.4:c.1920T>C NP_000244.2:p.Ser640= NC_000004.12:99611383:T:C p.(Ser640=) NC_000004.12:99611383:T:C p.(Ser640=) NC_000004.12:99611383:T:C Identity +NM_000028.3:c.1821C>G NP_000019.2:p.Pro607= NC_000001.11:99880716:C:G p.(Pro607=) NC_000001.11:99880716:C:G p.(Pro607=) NC_000001.11:99880716:C:G Identity +NM_000232.5:c.639C>T NP_000223.1:p.Thr213= NC_000004.12:52028081:G:A p.(Thr213=) NC_000004.12:52028081:G:A p.(Thr213=) NC_000004.12:52028081:G:A Identity +NM_001018037.2:c.7782A>G NP_001018047.1:p.Glu2594= NC_000009.12:77357783:A:G p.(Glu2594=) NC_000009.12:77357783:A:G p.(Glu2594=) NC_000009.12:77357783:A:G Identity +NM_001001396.3:c.2811G>A NP_001001396.1:p.Ala937= NC_000001.11:203721408:G:A p.(Ala937=) NC_000001.11:203721408:G:A p.(Ala937=) NC_000001.11:203721408:G:A Identity +NM_001243254.2:c.2775C>T NP_001230183.1:p.Asp925= NC_000011.10:9147111:G:A p.(Asp925=) NC_000011.10:9147111:G:A p.(Asp925=) NC_000011.10:9147111:G:A Identity +NM_001164617.2:c.1110G>A NP_001158089.1:p.Lys370= NC_000023.11:133700019:C:T p.(Lys370=) NC_000023.11:133700019:C:T p.(Lys370=) NC_000023.11:133700019:C:T Identity +NM_001318204.2:c.720C>T NP_001305133.1:p.Asp240= NC_000009.12:91733338:G:A p.(Asp240=) NC_000009.12:91733338:G:A p.(Asp240=) NC_000009.12:91733338:G:A Identity +NM_000787.4:c.120G>A NP_000778.3:p.Ser40= NC_000009.12:133636490:G:A p.(Ser40=) NC_000009.12:133636490:G:A p.(Ser40=) NC_000009.12:133636490:G:A Identity +NM_001130823.3:c.3066C>T NP_001124295.1:p.Asn1022= NC_000019.10:10143815:G:A p.(Asn1022=) NC_000019.10:10143815:G:A p.(Asn1022=) NC_000019.10:10143815:G:A Identity +NM_001161587.2:c.930T>C NP_001155059.1:p.Asn310= NC_000019.10:48981576:A:G p.(Asn310=) NC_000019.10:48981576:A:G p.(Asn310=) NC_000019.10:48981576:A:G Identity +NM_001256876.3:c.3807G>A NP_001243805.1:p.Thr1269= NC_000009.12:742314:G:A p.(Thr1269=) NC_000009.12:742314:G:A p.(Thr1269=) NC_000009.12:742314:G:A Identity +NM_001069.3:c.1071G>A NP_001060.1:p.Pro357= NC_000006.12:3154129:C:T p.(Pro357=) NC_000006.12:3154129:C:T p.(Pro357=) NC_000006.12:3154129:C:T Identity +NM_012448.4:c.1363C>T NP_036580.2:p.Leu455= NC_000017.11:42217176:G:A p.(Leu455=) NC_000017.11:42217176:G:A p.(Leu455=) NC_000017.11:42217176:G:A Identity +NM_002292.4:c.4674G>A NP_002283.3:p.Ala1558= NC_000003.12:49122269:C:T p.(Ala1558=) NC_000003.12:49122269:C:T p.(Ala1558=) NC_000003.12:49122269:C:T Identity +NM_000377.3:c.1407C>T NP_000368.1:p.Ala469= NC_000023.11:48689387:C:T p.(Ala469=) NC_000023.11:48689387:C:T p.(Ala469=) NC_000023.11:48689387:C:T Identity +NM_020529.3:c.948G>A NP_065390.1:p.Thr316= NC_000014.9:35402018:C:T p.(Thr316=) NC_000014.9:35402018:C:T p.(Thr316=) NC_000014.9:35402018:C:T Identity +NM_001440.4:c.1752C>T NP_001431.1:p.Tyr584= NC_000008.11:28717810:C:T p.(Tyr584=) NC_000008.11:28717810:C:T p.(Tyr584=) NC_000008.11:28717810:C:T Identity +NM_032634.4:c.1444C>T NP_116023.2:p.Leu482= NC_000009.12:35092442:G:A p.(Leu482=) NC_000009.12:35092442:G:A p.(Leu482=) NC_000009.12:35092442:G:A Identity +NM_000377.3:c.249C>T NP_000368.1:p.Tyr83= NC_000023.11:48684398:C:T p.(Tyr83=) NC_000023.11:48684398:C:T p.(Tyr83=) NC_000023.11:48684398:C:T Identity +NM_002890.3:c.417T>G NP_002881.1:p.Pro139= NC_000005.10:87268867:T:G p.(Pro139=) NC_000005.10:87268867:T:G p.(Pro139=) NC_000005.10:87268867:T:G Identity +NM_000528.4:c.1899C>T NP_000519.2:p.Leu633= NC_000019.10:12652391:G:A p.(Leu633=) NC_000019.10:12652391:G:A p.(Leu633=) NC_000019.10:12652391:G:A Identity +NM_014974.3:c.3186A>G NP_055789.1:p.Pro1062= NC_000010.11:348685:T:C p.(Pro1062=) NC_000010.11:348685:T:C p.(Pro1062=) NC_000010.11:348685:T:C Identity +NM_198525.3:c.3774C>A NP_940927.2:p.Ala1258= NC_000015.10:89628676:G:T p.(Ala1258=) NC_000015.10:89628676:G:T p.(Ala1258=) NC_000015.10:89628676:G:T Identity +NM_000245.4:c.1401T>G NP_000236.2:p.Val467= NC_000007.14:116739957:T:G p.(Val467=) NC_000007.14:116739957:T:G p.(Val467=) NC_000007.14:116739957:T:G Identity +NM_000170.3:c.2019T>C NP_000161.2:p.Tyr673= NC_000009.12:6558591:A:G p.(Tyr673=) NC_000009.12:6558591:A:G p.(Tyr673=) NC_000009.12:6558591:A:G Identity +NM_001077365.2:c.1989C>T NP_001070833.1:p.Ser663= NC_000009.12:131522209:C:T p.(Ser663=) NC_000009.12:131522209:C:T p.(Ser663=) NC_000009.12:131522209:C:T Identity +NM_001379141.1:c.1200C>G NP_001366070.1:p.Val400= NC_000018.10:44950539:C:G p.(Val400=) NC_000018.10:44950539:C:G p.(Val400=) NC_000018.10:44950539:C:G Identity +NM_001178129.2:c.993C>T NP_001171600.1:p.Tyr331= NC_000007.14:83400220:G:A p.(Tyr331=) NC_000007.14:83400220:G:A p.(Tyr331=) NC_000007.14:83400220:G:A Identity +NM_152309.3:c.1077A>G NP_689522.2:p.Pro359= NC_000010.11:96648766:T:C p.(Pro359=) NC_000010.11:96648766:T:C p.(Pro359=) NC_000010.11:96648766:T:C Identity +NM_001384732.1:c.9486A>G NP_001371661.1:p.Val3162= NC_000005.10:37108385:T:C p.(Val3162=) NC_000005.10:37108385:T:C p.(Val3162=) NC_000005.10:37108385:T:C Identity +NM_001385197.1:c.2502C>T NP_001372126.1:p.Pro834= NC_000019.10:10356682:G:A p.(Pro834=) NC_000019.10:10356682:G:A p.(Pro834=) NC_000019.10:10356682:G:A Identity +NM_001165412.2:c.1989C>T NP_001158884.1:p.Ser663= NC_000004.12:102607186:C:T p.(Ser663=) NC_000004.12:102607186:C:T p.(Ser663=) NC_000004.12:102607186:C:T Identity +NM_001100112.2:c.384C>T NP_001093582.1:p.Pro128= NC_000017.11:10545466:G:A p.(Pro128=) NC_000017.11:10545466:G:A p.(Pro128=) NC_000017.11:10545466:G:A Identity +NM_001283009.2:c.723C>T NP_001269938.1:p.Asp241= NC_000020.11:63672578:C:T p.(Asp241=) NC_000020.11:63672578:C:T p.(Asp241=) NC_000020.11:63672578:C:T Identity +NM_000108.5:c.660T>C NP_000099.2:p.Gly220= NC_000007.14:107906343:T:C p.(Gly220=) NC_000007.14:107906343:T:C p.(Gly220=) NC_000007.14:107906343:T:C Identity +NM_000177.5:c.1818G>A NP_000168.1:p.Val606= NC_000009.12:121327384:G:A p.(Val606=) NC_000009.12:121327384:G:A p.(Val606=) NC_000009.12:121327384:G:A Identity +NM_000441.2:c.252G>T NP_000432.1:p.Leu84= NC_000007.14:107663382:G:T p.(Leu84=) NC_000007.14:107663382:G:T p.(Leu84=) NC_000007.14:107663382:G:T Identity +NM_001308258.2:c.642G>A NP_001295187.1:p.Thr214= NC_000003.12:149145519:G:A p.(Thr214=) NC_000003.12:149145519:G:A p.(Thr214=) NC_000003.12:149145519:G:A Identity +NM_001278055.2:c.9450A>G NP_001264984.1:p.Glu3150= NC_000013.11:23333984:T:C p.(Glu3150=) NC_000013.11:23333984:T:C p.(Glu3150=) NC_000013.11:23333984:T:C Identity +NM_001256850.1:c.68244C>A NP_001243779.1:p.Leu22748= NC_000002.12:178572964:G:T p.(Leu22748=) NC_000002.12:178572964:G:T p.(Leu22748=) NC_000002.12:178572964:G:T Identity +NM_000053.4:c.4287G>C NP_000044.2:p.Ser1429= NC_000013.11:51934866:C:G p.(Ser1429=) NC_000013.11:51934866:C:G p.(Ser1429=) NC_000013.11:51934866:C:G Identity +NM_006440.5:c.993G>C NP_006431.2:p.Gly331= NC_000022.11:19883417:C:G p.(Gly331=) NC_000022.11:19883417:C:G p.? NC_000022.11:19883417:C:G Identity +NM_000053.4:c.2400C>T NP_000044.2:p.Ala800= NC_000013.11:51957562:G:A p.(Ala800=) NC_000013.11:51957562:G:A p.(Ala800=) NC_000013.11:51957562:G:A Identity +NM_000587.4:c.1473C>T NP_000578.2:p.Leu491= NC_000005.10:40958244:C:T p.(Leu491=) NC_000005.10:40958244:C:T p.(Leu491=) NC_000005.10:40958244:C:T Identity +NM_006019.4:c.834G>A NP_006010.2:p.Leu278= NC_000011.10:68044157:G:A p.(Leu278=) NC_000011.10:68044157:G:A p.(Leu278=) NC_000011.10:68044157:G:A Identity +NM_000528.4:c.468G>A NP_000519.2:p.Val156= NC_000019.10:12664953:C:T p.(Val156=) NC_000019.10:12664953:C:T p.(Val156=) NC_000019.10:12664953:C:T Identity +NM_001846.4:c.2274C>T NP_001837.2:p.Ile758= NC_000013.11:110472998:C:T p.(Ile758=) NC_000013.11:110472998:C:T p.(Ile758=) NC_000013.11:110472998:C:T Identity +NM_001378454.1:c.2775T>C NP_001365383.1:p.Phe925= NC_000002.12:73449301:T:C p.(Phe925=) NC_000002.12:73449301:T:C p.(Phe925=) NC_000002.12:73449301:T:C Identity +NM_133259.4:c.2593C>T NP_573566.2:p.Leu865= NC_000002.12:43934789:G:A p.(Leu865=) NC_000002.12:43934789:G:A p.(Leu865=) NC_000002.12:43934789:G:A Identity +NM_001142929.2:c.1308C>T NP_001136401.2:p.Tyr436= NC_000010.11:49655121:C:T p.(Tyr436=) NC_000010.11:49655121:C:T p.(Tyr436=) NC_000010.11:49655121:C:T Identity +NM_001007565.2:c.933G>T NP_001007566.1:p.Leu311= NC_000003.12:100748260:G:T p.(Leu311=) NC_000003.12:100748260:G:T p.(Leu311=) NC_000003.12:100748260:G:T Identity +NM_001289905.2:c.1059C>T NP_001276834.1:p.Asp353= NC_000022.11:17108379:C:T p.(Asp353=) NC_000022.11:17108379:C:T p.(Asp353=) NC_000022.11:17108379:C:T Identity +NM_001145337.3:c.144T>C NP_001138809.1:p.Tyr48= NC_000012.12:68813615:T:C p.(Tyr48=) NC_000012.12:68813615:T:C p.(Tyr48=) NC_000012.12:68813615:T:C Identity +NM_003659.4:c.873T>G NP_003650.1:p.Leu291= NC_000002.12:177461894:T:G p.(Leu291=) NC_000002.12:177461894:T:G p.(Leu291=) NC_000002.12:177461894:T:G Identity +NM_000817.3:c.1095A>G NP_000808.2:p.Lys365= NC_000002.12:170847767:A:G p.(Lys365=) NC_000002.12:170847767:A:G p.(Lys365=) NC_000002.12:170847767:A:G Identity +NM_001007097.3:c.1263C>T NP_001007098.1:p.Asp421= NC_000009.12:84745039:C:T p.(Asp421=) NC_000009.12:84745039:C:T p.(Asp421=) NC_000009.12:84745039:C:T Identity +NM_001005407.2:c.42C>T NP_001005407.1:p.Pro14= NC_000016.10:1153778:C:T p.(Pro14=) NC_000016.10:1153778:C:T p.(Pro14=) NC_000016.10:1153778:C:T Identity +NM_001040610.3:c.1635A>G NP_001035700.1:p.Ala545= NC_000015.10:82163946:T:C p.(Ala545=) NC_000015.10:82163946:T:C p.(Ala545=) NC_000015.10:82163946:T:C Identity +NM_001164278.2:c.939G>C NP_001157750.1:p.Val313= NC_000011.10:119026011:C:G p.(Val313=) NC_000011.10:119026011:C:G p.(Val313=) NC_000011.10:119026011:C:G Identity +NM_000187.4:c.792T>C NP_000178.2:p.Asn264= NC_000003.12:120641675:A:G p.(Asn264=) NC_000003.12:120641675:A:G p.(Asn264=) NC_000003.12:120641675:A:G Identity +NM_000378.6:c.225C>T NP_000369.4:p.Gly75= NC_000011.10:32435135:G:A p.(Gly75=) NC_000011.10:32435135:G:A p.(Gly75=) NC_000011.10:32435135:G:A Identity +NM_001386500.1:c.5094T>C NP_001373429.1:p.Tyr1698= NC_000001.11:11139339:A:G p.(Tyr1698=) NC_000001.11:11139339:A:G p.(Tyr1698=) NC_000001.11:11139339:A:G Identity +NM_000057.4:c.1332C>T NP_000048.1:p.Cys444= NC_000015.10:90760704:C:T p.(Cys444=) NC_000015.10:90760704:C:T p.(Cys444=) NC_000015.10:90760704:C:T Identity +NM_001558.4:c.804T>C NP_001549.2:p.Ser268= NC_000011.10:117995703:T:C p.(Ser268=) NC_000011.10:117995703:T:C p.(Ser268=) NC_000011.10:117995703:T:C Identity +NM_001845.6:c.4425C>T NP_001836.3:p.Tyr1475= NC_000013.11:110162266:G:A p.(Tyr1475=) NC_000013.11:110162266:G:A p.(Tyr1475=) NC_000013.11:110162266:G:A Identity +NM_007348.4:c.1536T>G NP_031374.2:p.Gly512= NC_000001.11:161860208:T:G p.(Gly512=) NC_000001.11:161860208:T:G p.(Gly512=) NC_000001.11:161860208:T:G Identity +NM_003791.4:c.1407C>T NP_003782.1:p.Leu469= NC_000016.10:84081787:G:A p.(Leu469=) NC_000016.10:84081787:G:A p.(Leu469=) NC_000016.10:84081787:G:A Identity +NM_001318245.2:c.6015G>A NP_001305174.1:p.Gly2005= NC_000022.11:25955219:G:A p.(Gly2005=) NC_000022.11:25955219:G:A p.(Gly2005=) NC_000022.11:25955219:G:A Identity +NM_001256850.1:c.888G>A NP_001243779.1:p.Val296= NC_000002.12:178799512:C:T p.(Val296=) NC_000002.12:178799512:C:T p.(Val296=) NC_000002.12:178799512:C:T Identity +NM_001256850.1:c.44670T>C NP_001243779.1:p.Ala14890= NC_000002.12:178613215:A:G p.(Ala14890=) NC_000002.12:178613215:A:G p.(Ala14890=) NC_000002.12:178613215:A:G Identity +NM_052876.4:c.438C>T NP_443108.1:p.Pro146= NC_000019.10:13135644:C:T p.(Pro146=) NC_000019.10:13135644:C:T p.(Pro146=) NC_000019.10:13135644:C:T Identity +NM_001164507.2:c.22041G>A NP_001157979.2:p.Leu7347= NC_000002.12:151526166:C:T p.(Leu7347=) NC_000002.12:151526166:C:T p.(Leu7347=) NC_000002.12:151526166:C:T Identity +NM_001098268.2:c.2451C>T NP_001091738.1:p.Thr817= NC_000013.11:108208817:G:A p.(Thr817=) NC_000013.11:108208817:G:A p.(Thr817=) NC_000013.11:108208817:G:A Identity +NM_018941.4:c.420C>G NP_061764.2:p.Leu140= NC_000008.11:1771473:C:G p.(Leu140=) NC_000008.11:1771473:C:G p.(Leu140=) NC_000008.11:1771473:C:G Identity +NM_001363520.3:c.828A>G NP_001350449.1:p.Gly276= NC_000004.12:127921932:T:C p.(Gly276=) NC_000004.12:127921932:T:C p.(Gly276=) NC_000004.12:127921932:T:C Identity +NM_001386761.1:c.1008T>A NP_001373690.1:p.Thr336= NC_000018.10:34825272:T:A p.(Thr336=) NC_000018.10:34825272:T:A p.(Thr336=) NC_000018.10:34825272:T:A Identity +NM_001440.4:c.1626C>T NP_001431.1:p.Ala542= NC_000008.11:28717684:C:T p.(Ala542=) NC_000008.11:28717684:C:T p.(Ala542=) NC_000008.11:28717684:C:T Identity +NM_000104.4:c.474C>A NP_000095.2:p.Arg158= NC_000002.12:38074914:G:T p.(Arg158=) NC_000002.12:38074914:G:T p.(Arg158=) NC_000002.12:38074914:G:T Identity +NM_153006.3:c.834C>T NP_694551.1:p.Thr278= NC_000017.11:44006155:C:T p.(Thr278=) NC_000017.11:44006155:C:T p.(Thr278=) NC_000017.11:44006155:C:T Identity +NM_001440.4:c.1659C>T NP_001431.1:p.Ile553= NC_000008.11:28717717:C:T p.(Ile553=) NC_000008.11:28717717:C:T p.(Ile553=) NC_000008.11:28717717:C:T Identity +NM_000135.4:c.3207T>C NP_000126.2:p.Leu1069= NC_000016.10:89749761:A:G p.(Leu1069=) NC_000016.10:89749761:A:G p.(Leu1069=) NC_000016.10:89749761:A:G Identity +NM_006509.4:c.1317G>A NP_006500.2:p.Pro439= NC_000019.10:45034490:G:A p.(Pro439=) NC_000019.10:45034490:G:A p.(Pro439=) NC_000019.10:45034490:G:A Identity +NM_000355.4:c.390G>A NP_000346.2:p.Gln130= NC_000022.11:30613004:G:A p.(Gln130=) NC_000022.11:30613004:G:A p.(Gln130=) NC_000022.11:30613004:G:A Identity +NM_001261406.2:c.3693A>G NP_001248335.1:p.Ala1231= NC_000009.12:13147595:T:C p.(Ala1231=) NC_000009.12:13147595:T:C p.(Ala1231=) NC_000009.12:13147595:T:C Identity +NM_001256269.2:c.894G>A NP_001243198.1:p.Lys298= NC_000016.10:29799734:G:A p.(Lys298=) NC_000016.10:29799734:G:A p.(Lys298=) NC_000016.10:29799734:G:A Identity +NM_005560.6:c.7185A>G NP_005551.3:p.Thr2395= NC_000020.11:62318507:T:C p.(Thr2395=) NC_000020.11:62318507:T:C p.(Thr2395=) NC_000020.11:62318507:T:C Identity +NM_000445.5:c.13137C>T NP_000436.2:p.Ala4379= NC_000008.11:143916764:G:A p.(Ala4379=) NC_000008.11:143916764:G:A p.(Ala4379=) NC_000008.11:143916764:G:A Identity +NM_001378454.1:c.11133T>C NP_001365383.1:p.Ile3711= NC_000002.12:73573009:T:C p.(Ile3711=) NC_000002.12:73573009:T:C p.(Ile3711=) NC_000002.12:73573009:T:C Identity +NM_001372305.1:c.822C>T NP_001359234.1:p.Tyr274= NC_000019.10:50323902:G:A p.(Tyr274=) NC_000019.10:50323902:G:A p.(Tyr274=) NC_000019.10:50323902:G:A Identity +NM_001135745.2:c.945C>T NP_001129217.1:p.Ser315= NC_000002.12:201761048:G:A p.(Ser315=) NC_000002.12:201761048:G:A p.(Ser315=) NC_000002.12:201761048:G:A Identity +NM_002334.4:c.2493C>T NP_002325.2:p.Tyr831= NC_000011.10:46886103:G:A p.(Tyr831=) NC_000011.10:46886103:G:A p.(Tyr831=) NC_000011.10:46886103:G:A Identity +NM_001171.6:c.3891C>T NP_001162.5:p.Ile1297= NC_000016.10:16155022:G:A p.(Ile1297=) NC_000016.10:16155022:G:A p.(Ile1297=) NC_000016.10:16155022:G:A Identity +NM_001284301.3:c.2370A>G NP_001271230.1:p.Ala790= NC_000007.14:36423820:A:G p.(Ala790=) NC_000007.14:36423820:A:G p.(Ala790=) NC_000007.14:36423820:A:G Identity +NM_001206846.2:c.3090A>G NP_001193775.1:p.Thr1030= NC_000001.11:197124947:T:C p.(Thr1030=) NC_000001.11:197124947:T:C p.(Thr1030=) NC_000001.11:197124947:T:C Identity +NM_000530.8:c.543C>T NP_000521.2:p.Tyr181= NC_000001.11:161306369:G:A p.(Tyr181=) NC_000001.11:161306369:G:A p.(Tyr181=) NC_000001.11:161306369:G:A Identity +NM_001350936.2:c.288C>T NP_001337865.1:p.Ser96= NC_000012.12:122483479:G:A p.(Ser96=) NC_000012.12:122483479:G:A p.(Ser96=) NC_000012.12:122483479:G:A Identity +NM_001364440.2:c.459T>C NP_001351369.1:p.His153= NC_000005.10:7878000:T:C p.(His153=) NC_000005.10:7878000:T:C p.(His153=) NC_000005.10:7878000:T:C Identity +NM_001207014.3:c.741C>T NP_001193943.1:p.Asp247= NC_000011.10:75568957:C:T p.(Asp247=) NC_000011.10:75568957:C:T p.(Asp247=) NC_000011.10:75568957:C:T Identity +NM_000492.4:c.3427T>C NP_000483.3:p.Leu1143= NC_000007.14:117614671:T:C p.(Leu1143=) NC_000007.14:117614671:T:C p.(Leu1143=) NC_000007.14:117614671:T:C Identity +NM_000171.4:c.798A>G NP_000162.2:p.Ser266= NC_000005.10:151851503:T:C p.(Ser266=) NC_000005.10:151851503:T:C p.(Ser266=) NC_000005.10:151851503:T:C Identity +NM_001278055.2:c.948C>T NP_001264984.1:p.His316= NC_000013.11:23355222:G:A p.(His316=) NC_000013.11:23355222:G:A p.(His316=) NC_000013.11:23355222:G:A Identity +NM_001350888.2:c.1476C>T NP_001337817.1:p.Asp492= NC_000014.9:96471595:C:T p.(Asp492=) NC_000014.9:96471595:C:T p.(Asp492=) NC_000014.9:96471595:C:T Identity +NM_032816.5:c.873G>A NP_116205.3:p.Ala291= NC_000019.10:32933463:C:T p.(Ala291=) NC_000019.10:32933463:C:T p.(Ala291=) NC_000019.10:32933463:C:T Identity +NM_000308.4:c.741C>T NP_000299.3:p.Asn247= NC_000020.11:45894035:C:T p.(Asn247=) NC_000020.11:45894035:C:T p.(Asn247=) NC_000020.11:45894035:C:T Identity +NM_003482.4:c.8985C>T NP_003473.3:p.Asp2995= NC_000012.12:49038370:G:A p.(Asp2995=) NC_000012.12:49038370:G:A p.(Asp2995=) NC_000012.12:49038370:G:A Identity +NM_000528.4:c.2265G>A NP_000519.2:p.Arg755= NC_000019.10:12649914:C:T p.(Arg755=) NC_000019.10:12649914:C:T p.(Arg755=) NC_000019.10:12649914:C:T Identity +NM_020435.4:c.408T>C NP_065168.2:p.Pro136= NC_000001.11:228158165:T:C p.(Pro136=) NC_000001.11:228158165:T:C p.(Pro136=) NC_000001.11:228158165:T:C Identity +NM_001843.4:c.2382T>A NP_001834.2:p.Pro794= NC_000012.12:41016878:T:A p.(Pro794=) NC_000012.12:41016878:T:A p.(Pro794=) NC_000012.12:41016878:T:A Identity +NM_000540.3:c.5628G>A NP_000531.2:p.Glu1876= NC_000019.10:38489256:G:A p.(Glu1876=) NC_000019.10:38489256:G:A p.(Glu1876=) NC_000019.10:38489256:G:A Identity +NM_000532.5:c.579T>A NP_000523.2:p.Ile193= NC_000003.12:136283871:T:A p.(Ile193=) NC_000003.12:136283871:T:A p.(Ile193=) NC_000003.12:136283871:T:A Identity +NM_000321.3:c.474G>A NP_000312.2:p.Leu158= NC_000013.11:48345172:G:A p.(Leu158=) NC_000013.11:48345172:G:A p.(Leu158=) NC_000013.11:48345172:G:A Identity +NM_000565.4:c.843C>T NP_000556.1:p.Asp281= NC_000001.11:154436003:C:T p.(Asp281=) NC_000001.11:154436003:C:T p.(Asp281=) NC_000001.11:154436003:C:T Identity +NM_001318784.2:c.1419G>A NP_001305713.1:p.Lys473= NC_000023.11:129567312:G:A p.(Lys473=) NC_000023.11:129567312:G:A p.(Lys473=) NC_000023.11:129567312:G:A Identity +NM_000289.6:c.93T>C NP_000280.1:p.Asn31= NC_000012.12:48130369:T:C p.(Asn31=) NC_000012.12:48130369:T:C p.(Asn31=) NC_000012.12:48130369:T:C Identity +NM_001160227.2:c.5988T>C NP_001153699.1:p.His1996= NC_000015.10:44572698:A:G p.(His1996=) NC_000015.10:44572698:A:G p.(His1996=) NC_000015.10:44572698:A:G Identity +NM_005618.4:c.1740C>T NP_005609.3:p.Ala580= NC_000006.12:170283538:G:A p.(Ala580=) NC_000006.12:170283538:G:A p.(Ala580=) NC_000006.12:170283538:G:A Identity +NM_000280.6:c.363A>G NP_000271.1:p.Ser121= NC_000011.10:31800850:T:C p.(Ser121=) NC_000011.10:31800850:T:C p.(Ser121=) NC_000011.10:31800850:T:C Identity +NM_000663.5:c.1488A>G NP_000654.2:p.Leu496= NC_000016.10:8781414:A:G p.(Leu496=) NC_000016.10:8781414:A:G p.(Leu496=) NC_000016.10:8781414:A:G Identity +NM_001453.3:c.1038C>G NP_001444.2:p.Pro346= NC_000006.12:1611482:C:G p.(Pro346=) NC_000006.12:1611482:C:G p.(Pro346=) NC_000006.12:1611482:C:G Identity +NM_001393363.1:c.270C>T NP_001380292.1:p.Ala90= NC_000003.12:33114346:C:T p.(Ala90=) NC_000003.12:33114346:C:T p.(Ala90=) NC_000003.12:33114346:C:T Identity +NM_001366624.2:c.96G>T NP_001353553.1:p.Leu32= NC_000013.11:76992193:G:T p.(Leu32=) NC_000013.11:76992193:G:T p.(Leu32=) NC_000013.11:76992193:G:T Identity +NM_000929.3:c.321C>G NP_000920.1:p.Leu107= NC_000001.11:20090595:C:G p.(Leu107=) NC_000001.11:20090595:C:G p.(Leu107=) NC_000001.11:20090595:C:G Identity +NM_001363813.1:c.1143G>T NP_001350742.1:p.Leu381= NC_000017.11:65538259:C:A p.(Leu381=) NC_000017.11:65538259:C:A p.(Leu381=) NC_000017.11:65538259:C:A Identity +NM_001160708.2:c.1194T>C NP_001154180.1:p.Ser398= NC_000012.12:106430376:T:C p.(Ser398=) NC_000012.12:106430376:T:C p.(Ser398=) NC_000012.12:106430376:T:C Identity +NM_024753.5:c.2010T>A NP_079029.3:p.Ile670= NC_000002.12:165915328:A:T p.(Ile670=) NC_000002.12:165915328:A:T p.(Ile670=) NC_000002.12:165915328:A:T Identity +NM_000302.4:c.723T>C NP_000293.2:p.His241= NC_000001.11:11956995:T:C p.(His241=) NC_000001.11:11956995:T:C p.(His241=) NC_000001.11:11956995:T:C Identity +NM_000232.5:c.408C>T NP_000223.1:p.Val136= NC_000004.12:52029698:G:A p.(Val136=) NC_000004.12:52029698:G:A p.(Val136=) NC_000004.12:52029698:G:A Identity +NM_001042771.3:c.408C>T NP_001036236.1:p.Asp136= NC_000001.11:32275598:C:T p.(Asp136=) NC_000001.11:32275598:C:T p.(Asp136=) NC_000001.11:32275598:C:T Identity +NM_001146282.2:c.1014A>G NP_001139754.1:p.Leu338= NC_000014.9:35022913:A:G p.(Leu338=) NC_000014.9:35022913:A:G p.(Leu338=) NC_000014.9:35022913:A:G Identity +NM_020366.4:c.769T>C NP_065099.3:p.Leu257= NC_000014.9:21303511:T:C p.(Leu257=) NC_000014.9:21303511:T:C p.(Leu257=) NC_000014.9:21303511:T:C Identity +NM_015662.3:c.3933G>A NP_056477.1:p.Ala1311= NC_000002.12:27453401:C:T p.(Ala1311=) NC_000002.12:27453401:C:T p.(Ala1311=) NC_000002.12:27453401:C:T Identity +NM_005120.3:c.5808C>T NP_005111.2:p.Tyr1936= NC_000023.11:71137616:C:T p.(Tyr1936=) NC_000023.11:71137616:C:T p.(Tyr1936=) NC_000023.11:71137616:C:T Identity +NM_001178010.2:c.597C>T NP_001171481.1:p.Phe199= NC_000022.11:19494560:C:T p.(Phe199=) NC_000022.11:19494560:C:T p.(Phe199=) NC_000022.11:19494560:C:T Identity +NM_000287.4:c.2871G>A NP_000278.3:p.Arg957= NC_000006.12:42964406:C:T p.(Arg957=) NC_000006.12:42964406:C:T p.(Arg957=) NC_000006.12:42964406:C:T Identity +NM_001127178.3:c.2541T>C NP_001120650.1:p.Tyr847= NC_000004.12:530714:T:C p.(Tyr847=) NC_000004.12:530714:T:C p.(Tyr847=) NC_000004.12:530714:T:C Identity +NM_001304482.2:c.1539C>T NP_001291411.1:p.Ala513= NC_000003.12:47409535:C:T p.(Ala513=) NC_000003.12:47409535:C:T p.(Ala513=) NC_000003.12:47409535:C:T Identity +NM_001005207.5:c.478T>C NP_001005207.1:p.Leu160= NC_000017.11:59081110:A:G p.(Leu160=) NC_000017.11:59081110:A:G p.(Leu160=) NC_000017.11:59081110:A:G Identity +NM_001114331.3:c.1443C>T NP_001107803.1:p.Tyr481= NC_000016.10:1450598:G:A p.(Tyr481=) NC_000016.10:1450598:G:A p.(Tyr481=) NC_000016.10:1450598:G:A Identity +NM_004525.3:c.9876T>C NP_004516.2:p.Asp3292= NC_000002.12:169182288:A:G p.(Asp3292=) NC_000002.12:169182288:A:G p.(Asp3292=) NC_000002.12:169182288:A:G Identity +NM_004260.4:c.1311A>C NP_004251.4:p.Pro437= NC_000008.11:144515404:T:G p.(Pro437=) NC_000008.11:144515404:T:G p.(Pro437=) NC_000008.11:144515404:T:G Identity +NM_152617.4:c.333T>C NP_689830.2:p.Ser111= NC_000003.12:196488651:A:G p.(Ser111=) NC_000003.12:196488651:A:G p.(Ser111=) NC_000003.12:196488651:A:G Identity +NM_000397.4:c.315A>G NP_000388.2:p.Ala105= NC_000023.11:37792036:A:G p.(Ala105=) NC_000023.11:37792036:A:G p.(Ala105=) NC_000023.11:37792036:A:G Identity +NM_001355019.2:c.282G>A NP_001341948.1:p.Val94= NC_000005.10:134201856:C:T p.(Val94=) NC_000005.10:134201856:C:T p.(Val94=) NC_000005.10:134201856:C:T Identity +NM_001130846.4:c.181C>T NP_001124318.2:p.Leu61= NC_000023.11:130136151:G:A p.(Leu61=) NC_000023.11:130136151:G:A p.(Leu61=) NC_000023.11:130136151:G:A Identity +NM_001185039.2:c.552C>T NP_001171968.1:p.Thr184= NC_000017.11:75955673:G:A p.(Thr184=) NC_000017.11:75955673:G:A p.(Thr184=) NC_000017.11:75955673:G:A Identity +NM_004260.4:c.2817G>C NP_004251.4:p.Ala939= NC_000008.11:144512709:C:G p.(Ala939=) NC_000008.11:144512709:C:G p.(Ala939=) NC_000008.11:144512709:C:G Identity +NM_001282225.2:c.354C>T NP_001269154.1:p.Ile118= NC_000022.11:17207258:G:A p.(Ile118=) NC_000022.11:17207258:G:A p.(Ile118=) NC_000022.11:17207258:G:A Identity +NM_006767.4:c.1725C>T NP_006758.2:p.Asp575= NC_000022.11:20994666:C:T p.(Asp575=) NC_000022.11:20994666:C:T p.(Asp575=) NC_000022.11:20994666:C:T Identity +NM_003816.3:c.363G>A NP_003807.1:p.Glu121= NC_000008.11:39016146:G:A p.(Glu121=) NC_000008.11:39016146:G:A p.(Glu121=) NC_000008.11:39016146:G:A Identity +NM_000481.4:c.399C>T NP_000472.2:p.Thr133= NC_000003.12:49420282:G:A p.(Thr133=) NC_000003.12:49420282:G:A p.(Thr133=) NC_000003.12:49420282:G:A Identity +NM_001378454.1:c.10665A>C NP_001365383.1:p.Gly3555= NC_000002.12:73572541:A:C p.(Gly3555=) NC_000002.12:73572541:A:C p.(Gly3555=) NC_000002.12:73572541:A:C Identity +NM_001044.5:c.1197C>G NP_001035.1:p.Ala399= NC_000005.10:1411314:G:C p.(Ala399=) NC_000005.10:1411314:G:C p.(Ala399=) NC_000005.10:1411314:G:C Identity +NM_001317799.2:c.1740A>G NP_001304728.1:p.Lys580= NC_000004.12:122979259:A:G p.(Lys580=) NC_000004.12:122979259:A:G p.(Lys580=) NC_000004.12:122979259:A:G Identity +NM_000088.4:c.4227C>T NP_000079.2:p.Ser1409= NC_000017.11:50185798:G:A p.(Ser1409=) NC_000017.11:50185798:G:A p.(Ser1409=) NC_000017.11:50185798:G:A Identity +NM_005618.4:c.1647C>T NP_005609.3:p.Cys549= NC_000006.12:170283631:G:A p.(Cys549=) NC_000006.12:170283631:G:A p.(Cys549=) NC_000006.12:170283631:G:A Identity +NM_001079812.3:c.223T>C NP_001073280.1:p.Leu75= NC_000005.10:141587091:A:G p.(Leu75=) NC_000005.10:141587091:A:G p.(Leu75=) NC_000005.10:141587091:A:G Identity +NM_000264.5:c.384G>C NP_000255.2:p.Leu128= NC_000009.12:95506416:C:G p.(Leu128=) NC_000009.12:95506416:C:G p.(Leu128=) NC_000009.12:95506416:C:G Identity +NM_020928.2:c.3306G>A NP_065979.1:p.Thr1102= NC_000005.10:61543974:G:A p.(Thr1102=) NC_000005.10:61543974:G:A p.(Thr1102=) NC_000005.10:61543974:G:A Identity +NM_001145472.3:c.282C>T NP_001138944.1:p.Asp94= NC_000018.10:46545320:G:A p.(Asp94=) NC_000018.10:46545320:G:A p.(Asp94=) NC_000018.10:46545320:G:A Identity +NM_001177310.2:c.2103C>T NP_001170781.1:p.Thr701= NC_000009.12:74800373:G:A p.(Thr701=) NC_000009.12:74800373:G:A p.(Thr701=) NC_000009.12:74800373:G:A Identity +NM_153240.5:c.2193A>G NP_694972.3:p.Leu731= NC_000003.12:132694943:T:C p.(Leu731=) NC_000003.12:132694943:T:C p.(Leu731=) NC_000003.12:132694943:T:C Identity +NM_005733.3:c.2379G>A NP_005724.1:p.Gln793= NC_000005.10:138187118:G:A p.(Gln793=) NC_000005.10:138187118:G:A p.(Gln793=) NC_000005.10:138187118:G:A Identity +NM_001127214.4:c.1098G>A NP_001120686.1:p.Gly366= NC_000016.10:89114458:G:A p.(Gly366=) NC_000016.10:89114458:G:A p.(Gly366=) NC_000016.10:89114458:G:A Identity +NM_021032.5:c.9G>A NP_066360.1:p.Ala3= NC_000003.12:192408214:C:T p.(Ala3=) NC_000003.12:192408214:C:T p.(Ala3=) NC_000003.12:192408214:C:T Identity +NM_000217.3:c.1401T>C NP_000208.2:p.His467= NC_000012.12:4912778:T:C p.(His467=) NC_000012.12:4912778:T:C p.(His467=) NC_000012.12:4912778:T:C Identity +NM_000944.5:c.558C>A NP_000935.1:p.Pro186= NC_000004.12:101098450:G:T p.(Pro186=) NC_000004.12:101098450:G:T p.(Pro186=) NC_000004.12:101098450:G:T Identity +NM_030665.4:c.3840G>A NP_109590.3:p.Lys1280= NC_000017.11:17796787:G:A p.(Lys1280=) NC_000017.11:17796787:G:A p.(Lys1280=) NC_000017.11:17796787:G:A Identity +NM_005027.4:c.177C>T NP_005018.2:p.Gly59= NC_000019.10:18156055:C:T p.(Gly59=) NC_000019.10:18156055:C:T p.(Gly59=) NC_000019.10:18156055:C:T Identity +NM_001127214.4:c.1005G>A NP_001120686.1:p.Leu335= NC_000016.10:89114365:G:A p.(Leu335=) NC_000016.10:89114365:G:A p.(Leu335=) NC_000016.10:89114365:G:A Identity +NM_001033503.3:c.183C>T NP_001028675.1:p.Ser61= NC_000005.10:134612751:G:A p.(Ser61=) NC_000005.10:134612751:G:A p.(Ser61=) NC_000005.10:134612751:G:A Identity +NM_004963.4:c.1644C>T NP_004954.2:p.Tyr548= NC_000012.12:14651472:G:A p.(Tyr548=) NC_000012.12:14651472:G:A p.(Tyr548=) NC_000012.12:14651472:G:A Identity +NM_001318038.3:c.759G>A NP_001304967.1:p.Leu253= NC_000022.11:42693192:C:T p.(Leu253=) NC_000022.11:42693192:C:T p.(Leu253=) NC_000022.11:42693192:C:T Identity +NM_001370085.1:c.891G>C NP_001357014.1:p.Pro297= NC_000020.11:763679:C:G p.(Pro297=) NC_000020.11:763679:C:G p.(Pro297=) NC_000020.11:763679:C:G Identity +NM_001386421.1:c.1677G>A NP_001373350.1:p.Pro559= NC_000003.12:45967656:C:T p.(Pro559=) NC_000003.12:45967656:C:T p.(Pro559=) NC_000003.12:45967656:C:T Identity +NM_000094.4:c.7980G>A NP_000085.1:p.Glu2660= NC_000003.12:48567712:C:T p.(Glu2660=) NC_000003.12:48567712:C:T p.(Glu2660=) NC_000003.12:48567712:C:T Identity +NM_001161587.2:c.1548G>A NP_001155059.1:p.Arg516= NC_000019.10:48970614:C:T p.(Arg516=) NC_000019.10:48970614:C:T p.(Arg516=) NC_000019.10:48970614:C:T Identity +NM_015662.3:c.2175C>T NP_056477.1:p.Ile725= NC_000002.12:27461776:G:A p.(Ile725=) NC_000002.12:27461776:G:A p.(Ile725=) NC_000002.12:27461776:G:A Identity +NM_001160227.2:c.3867G>A NP_001153699.1:p.Gln1289= NC_000015.10:44598655:C:T p.(Gln1289=) NC_000015.10:44598655:C:T p.(Gln1289=) NC_000015.10:44598655:C:T Identity +NM_001301226.2:c.18G>A NP_001288155.1:p.Lys6= NC_000009.12:35689799:C:T p.(Lys6=) NC_000009.12:35689799:C:T p.(Lys6=) NC_000009.12:35689799:C:T Identity +NM_001145853.1:c.933C>T NP_001139325.1:p.Gly311= NC_000004.12:6300727:C:T p.(Gly311=) NC_000004.12:6300727:C:T p.(Gly311=) NC_000004.12:6300727:C:T Identity +NM_000271.5:c.2937C>T NP_000262.2:p.Cys979= NC_000018.10:23538645:G:A p.(Cys979=) NC_000018.10:23538645:G:A p.(Cys979=) NC_000018.10:23538645:G:A Identity +NM_000062.3:c.768C>T NP_000053.2:p.Asp256= NC_000011.10:57606091:C:T p.(Asp256=) NC_000011.10:57606091:C:T p.(Asp256=) NC_000011.10:57606091:C:T Identity +NM_000482.4:c.930C>T NP_000473.2:p.Tyr310= NC_000011.10:116821127:G:A p.(Tyr310=) NC_000011.10:116821127:G:A p.(Tyr310=) NC_000011.10:116821127:G:A Identity +NM_003737.4:c.7410G>T NP_003728.1:p.Val2470= NC_000011.10:6624265:C:A p.(Val2470=) NC_000011.10:6624265:C:A p.(Val2470=) NC_000011.10:6624265:C:A Identity +NM_001031689.3:c.2019A>G NP_001026859.1:p.Gln673= NC_000009.12:26905879:T:C p.(Gln673=) NC_000009.12:26905879:T:C p.(Gln673=) NC_000009.12:26905879:T:C Identity +NM_017547.4:c.1122G>A NP_060017.1:p.Ala374= NC_000011.10:126277090:G:A p.(Ala374=) NC_000011.10:126277090:G:A p.(Ala374=) NC_000011.10:126277090:G:A Identity +NM_003105.6:c.1677C>T NP_003096.2:p.Asn559= NC_000011.10:121532543:C:T p.(Asn559=) NC_000011.10:121532543:C:T p.(Asn559=) NC_000011.10:121532543:C:T Identity +NM_001271466.4:c.549A>G NP_001258395.2:p.Leu183= NC_000002.12:231222771:A:G p.(Leu183=) NC_000002.12:231222771:A:G p.(Leu183=) NC_000002.12:231222771:A:G Identity +NM_139076.3:c.72C>T NP_620775.2:p.Asn24= NC_000004.12:83485000:G:A p.(Asn24=) NC_000004.12:83485000:G:A p.(Asn24=) NC_000004.12:83485000:G:A Identity +NM_005157.6:c.1497A>G NP_005148.2:p.Glu499= NC_000009.12:130880140:A:G p.(Glu499=) NC_000009.12:130880140:A:G p.(Glu499=) NC_000009.12:130880140:A:G Identity +NM_001291494.2:c.2571T>C NP_001278423.1:p.Asn857= NC_000010.11:15572231:A:G p.(Asn857=) NC_000010.11:15572231:A:G p.(Asn857=) NC_000010.11:15572231:A:G Identity +NM_000234.3:c.1695C>T NP_000225.1:p.Cys565= NC_000019.10:48133011:G:A p.(Cys565=) NC_000019.10:48133011:G:A p.(Cys565=) NC_000019.10:48133011:G:A Identity +NM_002709.3:c.316C>T NP_002700.1:p.Leu106= NC_000002.12:28778939:C:T p.(Leu106=) NC_000002.12:28778939:C:T p.(Leu106=) NC_000002.12:28778939:C:T Identity +NM_198075.4:c.1362G>A NP_932341.1:p.Lys454= NC_000011.10:554008:G:A p.(Lys454=) NC_000011.10:554008:G:A p.(Lys454=) NC_000011.10:554008:G:A Identity +NM_001174063.2:c.141C>G NP_001167534.1:p.Pro47= NC_000008.11:38429898:G:C p.(Pro47=) NC_000008.11:38429898:G:C p.(Pro47=) NC_000008.11:38429898:G:C Identity +NM_001232.4:c.1050C>T NP_001223.2:p.Asp350= NC_000001.11:115701390:G:A p.(Asp350=) NC_000001.11:115701390:G:A p.(Asp350=) NC_000001.11:115701390:G:A Identity +NM_001161587.2:c.1341T>C NP_001155059.1:p.Pro447= NC_000019.10:48974228:A:G p.(Pro447=) NC_000019.10:48974228:A:G p.(Pro447=) NC_000019.10:48974228:A:G Identity +NM_001792.5:c.129A>G NP_001783.2:p.Ala43= NC_000018.10:28147715:T:C p.(Ala43=) NC_000018.10:28147715:T:C p.(Ala43=) NC_000018.10:28147715:T:C Identity +NM_003730.6:c.642C>T NP_003721.2:p.Thr214= NC_000006.12:166929716:G:A p.(Thr214=) NC_000006.12:166929716:G:A p.(Thr214=) NC_000006.12:166929716:G:A Identity +NM_000760.4:c.1197G>A NP_000751.1:p.Leu399= NC_000001.11:36471520:C:T p.(Leu399=) NC_000001.11:36471520:C:T p.(Leu399=) NC_000001.11:36471520:C:T Identity +NM_001287489.2:c.735G>A NP_001274418.1:p.Glu245= NC_000002.12:26501783:C:T p.(Glu245=) NC_000002.12:26501783:C:T p.(Glu245=) NC_000002.12:26501783:C:T Identity +NM_001042594.2:c.1041T>C NP_001036059.1:p.Ser347= NC_000007.14:124835349:A:G p.(Ser347=) NC_000007.14:124835349:A:G p.(Ser347=) NC_000007.14:124835349:A:G Identity +NM_000052.7:c.204C>T NP_000043.4:p.Asp68= NC_000023.11:77988324:C:T p.(Asp68=) NC_000023.11:77988324:C:T p.(Asp68=) NC_000023.11:77988324:C:T Identity +NM_000308.4:c.219C>T NP_000299.3:p.Pro73= NC_000020.11:45891939:C:T p.(Pro73=) NC_000020.11:45891939:C:T p.(Pro73=) NC_000020.11:45891939:C:T Identity +NM_000254.3:c.3030C>T NP_000245.2:p.Tyr1010= NC_000001.11:236891154:C:T p.(Tyr1010=) NC_000001.11:236891154:C:T p.(Tyr1010=) NC_000001.11:236891154:C:T Identity +NM_001170794.2:c.582C>T NP_001164265.1:p.Ala194= NC_000006.12:89951523:G:A p.(Ala194=) NC_000006.12:89951523:G:A p.(Ala194=) NC_000006.12:89951523:G:A Identity +NM_000112.4:c.321C>T NP_000103.2:p.Asn107= NC_000005.10:149977972:C:T p.(Asn107=) NC_000005.10:149977972:C:T p.(Asn107=) NC_000005.10:149977972:C:T Identity +NM_001384732.1:c.3474A>G NP_001371661.1:p.Pro1158= NC_000005.10:37201623:T:C p.(Pro1158=) NC_000005.10:37201623:T:C p.(Pro1158=) NC_000005.10:37201623:T:C Identity +NM_005902.4:c.177C>T NP_005893.1:p.Asn59= NC_000015.10:67066330:C:T p.(Asn59=) NC_000015.10:67066330:C:T p.(Asn59=) NC_000015.10:67066330:C:T Identity +NM_015512.5:c.10689G>A NP_056327.4:p.Pro3563= NC_000003.12:52394526:G:A p.(Pro3563=) NC_000003.12:52394526:G:A p.(Pro3563=) NC_000003.12:52394526:G:A Identity +NM_014918.5:c.1224T>C NP_055733.2:p.Ile408= NC_000015.10:101178572:A:G p.(Ile408=) NC_000015.10:101178572:A:G p.(Ile408=) NC_000015.10:101178572:A:G Identity +NM_144670.6:c.1047T>C NP_653271.3:p.Asn349= NC_000012.12:8839188:T:C p.(Asn349=) NC_000012.12:8839188:T:C p.(Asn349=) NC_000012.12:8839188:T:C Identity +NM_000528.4:c.504C>T NP_000519.2:p.Ile168= NC_000019.10:12664917:G:A p.(Ile168=) NC_000019.10:12664917:G:A p.(Ile168=) NC_000019.10:12664917:G:A Identity +NM_000264.5:c.3180G>T NP_000255.2:p.Leu1060= NC_000009.12:95456401:C:A p.(Leu1060=) NC_000009.12:95456401:C:A p.(Leu1060=) NC_000009.12:95456401:C:A Identity +NM_001012331.2:c.90T>G NP_001012331.1:p.Ser30= NC_000001.11:156861023:T:G p.(Ser30=) NC_000001.11:156861023:T:G p.(Ser30=) NC_000001.11:156861023:T:G Identity +NM_001145853.1:c.2118C>T NP_001139325.1:p.Tyr706= NC_000004.12:6301912:C:T p.(Tyr706=) NC_000004.12:6301912:C:T p.(Tyr706=) NC_000004.12:6301912:C:T Identity +NM_001282237.2:c.2280C>T NP_001269166.1:p.Asp760= NC_000014.9:99174552:G:A p.(Asp760=) NC_000014.9:99174552:G:A p.(Asp760=) NC_000014.9:99174552:G:A Identity +NM_001558.4:c.465C>T NP_001549.2:p.Asp155= NC_000011.10:117993337:C:T p.(Asp155=) NC_000011.10:117993337:C:T p.(Asp155=) NC_000011.10:117993337:C:T Identity +NM_005045.4:c.5655C>T NP_005036.2:p.Ser1885= NC_000007.14:103557118:G:A p.(Ser1885=) NC_000007.14:103557118:G:A p.(Ser1885=) NC_000007.14:103557118:G:A Identity +NM_005045.4:c.9282T>C NP_005036.2:p.Tyr3094= NC_000007.14:103495809:A:G p.(Tyr3094=) NC_000007.14:103495809:A:G p.(Tyr3094=) NC_000007.14:103495809:A:G Identity +NM_000234.3:c.1341C>T NP_000225.1:p.Ser447= NC_000019.10:48136115:G:A p.(Ser447=) NC_000019.10:48136115:G:A p.(Ser447=) NC_000019.10:48136115:G:A Identity +NM_000718.4:c.4924T>C NP_000709.1:p.Leu1642= NC_000009.12:138075884:T:C p.(Leu1642=) NC_000009.12:138075884:T:C p.(Leu1642=) NC_000009.12:138075884:T:C Identity +NM_005908.4:c.1512G>A NP_005899.3:p.Thr504= NC_000004.12:102657873:C:T p.(Thr504=) NC_000004.12:102657873:C:T p.(Thr504=) NC_000004.12:102657873:C:T Identity +NM_021951.3:c.213G>A NP_068770.2:p.Pro71= NC_000009.12:842050:G:A p.(Pro71=) NC_000009.12:842050:G:A p.(Pro71=) NC_000009.12:842050:G:A Identity +NM_014225.6:c.492G>A NP_055040.2:p.Ala164= NC_000019.10:52211480:G:A p.(Ala164=) NC_000019.10:52211480:G:A p.(Ala164=) NC_000019.10:52211480:G:A Identity +NM_020693.4:c.4137G>A NP_065744.3:p.Leu1379= NC_000011.10:117439272:C:T p.(Leu1379=) NC_000011.10:117439272:C:T p.(Leu1379=) NC_000011.10:117439272:C:T Identity +NM_000099.4:c.105A>G NP_000090.1:p.Leu35= NC_000020.11:23637757:T:C p.(Leu35=) NC_000020.11:23637757:T:C p.(Leu35=) NC_000020.11:23637757:T:C Identity +NM_001146008.2:c.327C>T NP_001139480.1:p.Ser109= NC_000008.11:69832346:G:A p.(Ser109=) NC_000008.11:69832346:G:A p.(Ser109=) NC_000008.11:69832346:G:A Identity +NM_000833.5:c.1278C>G NP_000824.1:p.Thr426= NC_000016.10:9849805:G:C p.(Thr426=) NC_000016.10:9849805:G:C p.(Thr426=) NC_000016.10:9849805:G:C Identity +NM_020884.7:c.417T>C NP_065935.4:p.Ala139= NC_000020.11:34980651:T:C p.(Ala139=) NC_000020.11:34980651:T:C p.(Ala139=) NC_000020.11:34980651:T:C Identity +NM_024652.6:c.3564C>T NP_078928.3:p.Phe1188= NC_000015.10:101051834:C:T p.(Phe1188=) NC_000015.10:101051834:C:T p.(Phe1188=) NC_000015.10:101051834:C:T Identity +NM_005618.4:c.639C>T NP_005609.3:p.Asn213= NC_000006.12:170288269:G:A p.(Asn213=) NC_000006.12:170288269:G:A p.(Asn213=) NC_000006.12:170288269:G:A Identity +NM_152309.3:c.1863C>T NP_689522.2:p.Asn621= NC_000010.11:96620429:G:A p.(Asn621=) NC_000010.11:96620429:G:A p.(Asn621=) NC_000010.11:96620429:G:A Identity +NM_000720.4:c.3312C>T NP_000711.1:p.Phe1104= NC_000003.12:53747385:C:T p.(Phe1104=) NC_000003.12:53747385:C:T p.(Phe1104=) NC_000003.12:53747385:C:T Identity +NM_018847.4:c.531C>T NP_061335.1:p.Ile177= NC_000009.12:21334328:G:A p.(Ile177=) NC_000009.12:21334328:G:A p.(Ile177=) NC_000009.12:21334328:G:A Identity +NM_001017995.3:c.1245G>A NP_001017995.1:p.Gly415= NC_000005.10:172339859:C:T p.(Gly415=) NC_000005.10:172339859:C:T p.(Gly415=) NC_000005.10:172339859:C:T Identity +NM_017671.5:c.888C>T NP_060141.3:p.Ala296= NC_000020.11:6097592:G:A p.(Ala296=) NC_000020.11:6097592:G:A p.(Ala296=) NC_000020.11:6097592:G:A Identity +NM_000234.3:c.1818C>T NP_000225.1:p.Pro606= NC_000019.10:48131078:G:A p.(Pro606=) NC_000019.10:48131078:G:A p.(Pro606=) NC_000019.10:48131078:G:A Identity +NM_001193307.2:c.3195A>G NP_001180236.1:p.Glu1065= NC_000007.14:93102902:T:C p.(Glu1065=) NC_000007.14:93102902:T:C p.(Glu1065=) NC_000007.14:93102902:T:C Identity +NM_001278669.2:c.1527C>T NP_001265598.1:p.Ala509= NC_000018.10:79448921:C:T p.(Ala509=) NC_000018.10:79448921:C:T p.(Ala509=) NC_000018.10:79448921:C:T Identity +NM_001111097.3:c.1356T>C NP_001104567.1:p.Tyr452= NC_000008.11:56009989:T:C p.(Tyr452=) NC_000008.11:56009989:T:C p.(Tyr452=) NC_000008.11:56009989:T:C Identity +NM_001286220.2:c.201C>T NP_001273149.1:p.Tyr67= NC_000016.10:58723790:G:A p.(Tyr67=) NC_000016.10:58723790:G:A p.(Tyr67=) NC_000016.10:58723790:G:A Identity +NM_012213.3:c.232C>T NP_036345.2:p.Leu78= NC_000016.10:83899375:C:T p.(Leu78=) NC_000016.10:83899375:C:T p.(Leu78=) NC_000016.10:83899375:C:T Identity +NM_001190274.2:c.885T>C NP_001177203.1:p.Tyr295= NC_000002.12:47834627:A:G p.(Tyr295=) NC_000002.12:47834627:A:G p.(Tyr295=) NC_000002.12:47834627:A:G Identity +NM_000243.3:c.1431G>A NP_000234.1:p.Glu477= NC_000016.10:3247171:C:T p.(Glu477=) NC_000016.10:3247171:C:T p.(Glu477=) NC_000016.10:3247171:C:T Identity +NM_198075.4:c.1203G>A NP_932341.1:p.Pro401= NC_000011.10:552589:G:A p.(Pro401=) NC_000011.10:552589:G:A p.(Pro401=) NC_000011.10:552589:G:A Identity +NM_001942.4:c.3084G>T NP_001933.2:p.Gly1028= NC_000018.10:31355279:G:T p.(Gly1028=) NC_000018.10:31355279:G:T p.(Gly1028=) NC_000018.10:31355279:G:T Identity +NM_001291285.3:c.12402G>A NP_001278214.1:p.Gly4134= NC_000004.12:125477256:G:A p.(Gly4134=) NC_000004.12:125477256:G:A p.(Gly4134=) NC_000004.12:125477256:G:A Identity +NM_001164507.2:c.6600T>C NP_001157979.2:p.Ser2200= NC_000002.12:151655918:A:G p.(Ser2200=) NC_000002.12:151655918:A:G p.(Ser2200=) NC_000002.12:151655918:A:G Identity +NM_014918.5:c.306C>A NP_055733.2:p.Ala102= NC_000015.10:101251150:G:T p.(Ala102=) NC_000015.10:101251150:G:T p.(Ala102=) NC_000015.10:101251150:G:T Identity +NM_030930.4:c.243C>A NP_112192.2:p.Leu81= NC_000011.10:68003170:G:T p.(Leu81=) NC_000011.10:68003170:G:T p.(Leu81=) NC_000011.10:68003170:G:T Identity +NM_033071.5:c.9999A>G NP_149062.2:p.Leu3333= NC_000006.12:152365013:T:C p.(Leu3333=) NC_000006.12:152365013:T:C p.(Leu3333=) NC_000006.12:152365013:T:C Identity +NM_001324281.3:c.1329C>T NP_001311210.1:p.Asn443= NC_000007.14:2937048:G:A p.(Asn443=) NC_000007.14:2937048:G:A p.(Asn443=) NC_000007.14:2937048:G:A Identity +NM_001007792.1:c.771T>C NP_001007793.1:p.Ser257= NC_000001.11:156873642:T:C p.(Ser257=) NC_000001.11:156873642:T:C p.(Ser257=) NC_000001.11:156873642:T:C Identity +NM_000812.4:c.897G>A NP_000803.2:p.Lys299= NC_000004.12:47406742:G:A p.(Lys299=) NC_000004.12:47406742:G:A p.(Lys299=) NC_000004.12:47406742:G:A Identity +NM_000445.5:c.7443G>A NP_000436.2:p.Glu2481= NC_000008.11:143922566:C:T p.(Glu2481=) NC_000008.11:143922566:C:T p.(Glu2481=) NC_000008.11:143922566:C:T Identity +NM_001288951.2:c.1476T>C NP_001275880.1:p.Ala492= NC_000002.12:47021944:T:C p.(Ala492=) NC_000002.12:47021944:T:C p.(Ala492=) NC_000002.12:47021944:T:C Identity +NM_001308122.2:c.1584C>T NP_001295051.1:p.Ile528= NC_000005.10:132393736:C:T p.(Ile528=) NC_000005.10:132393736:C:T p.(Ile528=) NC_000005.10:132393736:C:T Identity +NM_001193416.3:c.870A>G NP_001180345.1:p.Ser290= NC_000023.11:41344243:A:G p.(Ser290=) NC_000023.11:41344243:A:G p.(Ser290=) NC_000023.11:41344243:A:G Identity +NM_001621.5:c.1134T>C NP_001612.1:p.Tyr378= NC_000007.14:17335759:T:C p.(Tyr378=) NC_000007.14:17335759:T:C p.(Tyr378=) NC_000007.14:17335759:T:C Identity +NM_001378454.1:c.4203A>T NP_001365383.1:p.Leu1401= NC_000002.12:73450729:A:T p.(Leu1401=) NC_000002.12:73450729:A:T p.(Leu1401=) NC_000002.12:73450729:A:T Identity +NM_001267550.2:c.40248A>G NP_001254479.2:p.Lys13416= NC_000002.12:178646533:T:C p.(Lys13416=) NC_000002.12:178646533:T:C p.(Lys13416=) NC_000002.12:178646533:T:C Identity +NM_000562.3:c.771C>T NP_000553.1:p.Ala257= NC_000001.11:56883596:C:T p.(Ala257=) NC_000001.11:56883596:C:T p.(Ala257=) NC_000001.11:56883596:C:T Identity +NM_001135999.2:c.3204A>G NP_001129471.2:p.Pro1068= NC_000009.12:35558339:A:G p.(Pro1068=) NC_000009.12:35558339:A:G p.(Pro1068=) NC_000009.12:35558339:A:G Identity +NM_030665.4:c.609C>T NP_109590.3:p.Phe203= NC_000017.11:17793556:C:T p.(Phe203=) NC_000017.11:17793556:C:T p.(Phe203=) NC_000017.11:17793556:C:T Identity +NM_001134363.3:c.1029C>T NP_001127835.2:p.His343= NC_000010.11:110781637:C:T p.(His343=) NC_000010.11:110781637:C:T p.(His343=) NC_000010.11:110781637:C:T Identity +NM_003482.4:c.6585C>T NP_003473.3:p.Thr2195= NC_000012.12:49041184:G:A p.(Thr2195=) NC_000012.12:49041184:G:A p.(Thr2195=) NC_000012.12:49041184:G:A Identity +NM_001041.4:c.978T>C NP_001032.2:p.Leu326= NC_000003.12:165062412:A:G p.(Leu326=) NC_000003.12:165062412:A:G p.(Leu326=) NC_000003.12:165062412:A:G Identity +NM_001166280.2:c.2184C>T NP_001159752.1:p.Tyr728= NC_000009.12:110800819:C:T p.(Tyr728=) NC_000009.12:110800819:C:T p.(Tyr728=) NC_000009.12:110800819:C:T Identity +NM_005458.8:c.2190C>T NP_005449.5:p.Phe730= NC_000009.12:98306159:G:A p.(Phe730=) NC_000009.12:98306159:G:A p.(Phe730=) NC_000009.12:98306159:G:A Identity +NM_001080114.2:c.144C>G NP_001073583.1:p.Leu48= NC_000010.11:86679416:C:G p.(Leu48=) NC_000010.11:86679416:C:G p.(Leu48=) NC_000010.11:86679416:C:G Identity +NM_002439.5:c.261G>A NP_002430.3:p.Lys87= NC_000005.10:80656433:G:A p.(Lys87=) NC_000005.10:80656433:G:A p.(Lys87=) NC_000005.10:80656433:G:A Identity +NM_002439.5:c.3327G>A NP_002430.3:p.Lys1109= NC_000005.10:80875774:G:A p.(Lys1109=) NC_000005.10:80875774:G:A p.(Lys1109=) NC_000005.10:80875774:G:A Identity +NM_000028.3:c.1560C>T NP_000019.2:p.Phe520= NC_000001.11:99877776:C:T p.(Phe520=) NC_000001.11:99877776:C:T p.(Phe520=) NC_000001.11:99877776:C:T Identity +NM_001440.4:c.1680G>A NP_001431.1:p.Ala560= NC_000008.11:28717738:G:A p.(Ala560=) NC_000008.11:28717738:G:A p.(Ala560=) NC_000008.11:28717738:G:A Identity +NM_001166136.2:c.2397A>G NP_001159608.1:p.Gln799= NC_000004.12:5618546:T:C p.(Gln799=) NC_000004.12:5618546:T:C p.(Gln799=) NC_000004.12:5618546:T:C Identity +NM_015164.4:c.783C>T NP_055979.2:p.Ser261= NC_000001.11:15725386:C:T p.(Ser261=) NC_000001.11:15725386:C:T p.(Ser261=) NC_000001.11:15725386:C:T Identity +NM_003954.5:c.1140C>T NP_003945.2:p.Val380= NC_000017.11:45286442:G:A p.(Val380=) NC_000017.11:45286442:G:A p.(Val380=) NC_000017.11:45286442:G:A Identity +NM_030665.4:c.4086C>T NP_109590.3:p.Ser1362= NC_000017.11:17797033:C:T p.(Ser1362=) NC_000017.11:17797033:C:T p.(Ser1362=) NC_000017.11:17797033:C:T Identity +NM_004281.4:c.1011C>A NP_004272.2:p.Ile337= NC_000010.11:119676564:C:A p.(Ile337=) NC_000010.11:119676564:C:A p.(Ile337=) NC_000010.11:119676564:C:A Identity +NM_001363520.3:c.24T>C NP_001350449.1:p.Ser8= NC_000004.12:127965109:A:G p.(Ser8=) NC_000004.12:127965109:A:G p.(Ser8=) NC_000004.12:127965109:A:G Identity +NM_001127487.2:c.6360C>G NP_001120959.1:p.Thr2120= NC_000007.14:128853811:C:G p.(Thr2120=) NC_000007.14:128853811:C:G p.(Thr2120=) NC_000007.14:128853811:C:G Identity +NM_001844.5:c.840C>G NP_001835.3:p.Thr280= NC_000012.12:47994023:G:C p.(Thr280=) NC_000012.12:47994023:G:C p.(Thr280=) NC_000012.12:47994023:G:C Identity +NM_006767.4:c.1734C>T NP_006758.2:p.Asn578= NC_000022.11:20994675:C:T p.(Asn578=) NC_000022.11:20994675:C:T p.(Asn578=) NC_000022.11:20994675:C:T Identity +NM_001278055.2:c.6438T>C NP_001264984.1:p.Val2146= NC_000013.11:23336996:A:G p.(Val2146=) NC_000013.11:23336996:A:G p.(Val2146=) NC_000013.11:23336996:A:G Identity +NM_001126131.2:c.3060T>A NP_001119603.1:p.Ile1020= NC_000015.10:89319271:A:T p.(Ile1020=) NC_000015.10:89319271:A:T p.(Ile1020=) NC_000015.10:89319271:A:T Identity +NM_000270.4:c.264T>C NP_000261.2:p.Tyr88= NC_000014.9:20474553:T:C p.(Tyr88=) NC_000014.9:20474553:T:C p.(Tyr88=) NC_000014.9:20474553:T:C Identity +NM_001386500.1:c.7107G>A NP_001373429.1:p.Glu2369= NC_000001.11:11114869:C:T p.(Glu2369=) NC_000001.11:11114869:C:T p.(Glu2369=) NC_000001.11:11114869:C:T Identity +NM_001005407.2:c.5508C>T NP_001005407.1:p.Thr1836= NC_000016.10:1218289:C:T p.(Thr1836=) NC_000016.10:1218289:C:T p.(Thr1836=) NC_000016.10:1218289:C:T Identity +NM_000133.4:c.1074A>G NP_000124.1:p.Arg358= NC_000023.11:139561758:A:G p.(Arg358=) NC_000023.11:139561758:A:G p.(Arg358=) NC_000023.11:139561758:A:G Identity +NM_001079812.3:c.2460G>A NP_001073280.1:p.Lys820= NC_000005.10:141534428:C:T p.(Lys820=) NC_000005.10:141534428:C:T p.(Lys820=) NC_000005.10:141534428:C:T Identity +NM_001288951.2:c.2181C>T NP_001275880.1:p.Pro727= NC_000002.12:47051836:C:T p.(Pro727=) NC_000002.12:47051836:C:T p.(Pro727=) NC_000002.12:47051836:C:T Identity +NM_001171.6:c.2521C>T NP_001162.5:p.Leu841= NC_000016.10:16177520:G:A p.(Leu841=) NC_000016.10:16177520:G:A p.(Leu841=) NC_000016.10:16177520:G:A Identity +NM_001352018.2:c.240G>A NP_001338947.1:p.Leu80= NC_000016.10:910954:C:T p.(Leu80=) NC_000016.10:910954:C:T p.(Leu80=) NC_000016.10:910954:C:T Identity +NM_001313741.1:c.2406A>G NP_001300670.1:p.Glu802= NC_000013.11:25769186:A:G p.(Glu802=) NC_000013.11:25769186:A:G p.(Glu802=) NC_000013.11:25769186:A:G Identity +NM_000245.4:c.2379C>T NP_000236.2:p.Arg793= NC_000007.14:116763063:C:T p.(Arg793=) NC_000007.14:116763063:C:T p.(Arg793=) NC_000007.14:116763063:C:T Identity +NM_001128844.3:c.3606C>T NP_001122316.1:p.Leu1202= NC_000019.10:11033348:C:T p.(Leu1202=) NC_000019.10:11033348:C:T p.(Leu1202=) NC_000019.10:11033348:C:T Identity +NM_000275.3:c.1758C>T NP_000266.2:p.Leu586= NC_000015.10:27957613:G:A p.(Leu586=) NC_000015.10:27957613:G:A p.(Leu586=) NC_000015.10:27957613:G:A Identity +NM_001042771.3:c.609T>C NP_001036236.1:p.His203= NC_000001.11:32276040:T:C p.(His203=) NC_000001.11:32276040:T:C p.(His203=) NC_000001.11:32276040:T:C Identity +NM_133259.4:c.2289G>A NP_573566.2:p.Lys763= NC_000002.12:43945338:C:T p.(Lys763=) NC_000002.12:43945338:C:T p.(Lys763=) NC_000002.12:43945338:C:T Identity +NM_001001396.3:c.1605C>T NP_001001396.1:p.Thr535= NC_000001.11:203709347:C:T p.(Thr535=) NC_000001.11:203709347:C:T p.(Thr535=) NC_000001.11:203709347:C:T Identity +NM_000528.4:c.1386G>C NP_000519.2:p.Ala462= NC_000019.10:12657478:C:G p.(Ala462=) NC_000019.10:12657478:C:G p.(Ala462=) NC_000019.10:12657478:C:G Identity +NM_001385197.1:c.1155C>T NP_001372126.1:p.His385= NC_000019.10:10364904:G:A p.(His385=) NC_000019.10:10364904:G:A p.(His385=) NC_000019.10:10364904:G:A Identity +NM_153006.3:c.1222C>T NP_694551.1:p.Leu408= NC_000017.11:44007447:C:T p.(Leu408=) NC_000017.11:44007447:C:T p.(Leu408=) NC_000017.11:44007447:C:T Identity +NM_001306090.2:c.2550G>T NP_001293019.1:p.Ala850= NC_000004.12:5804829:G:T p.(Ala850=) NC_000004.12:5804829:G:T p.(Ala850=) NC_000004.12:5804829:G:T Identity +NM_000203.5:c.649C>A NP_000194.2:p.Arg217= NC_000004.12:1001737:C:A p.(Arg217=) NC_000004.12:1001737:C:A p.(Arg217=) NC_000004.12:1001737:C:A Identity +NM_000528.4:c.2533C>T NP_000519.2:p.Leu845= NC_000019.10:12648305:G:A p.(Leu845=) NC_000019.10:12648305:G:A p.(Leu845=) NC_000019.10:12648305:G:A Identity +NM_033071.5:c.4830G>A NP_149062.2:p.Glu1610= NC_000006.12:152428371:C:T p.(Glu1610=) NC_000006.12:152428371:C:T p.(Glu1610=) NC_000006.12:152428371:C:T Identity +NM_003954.5:c.711C>T NP_003945.2:p.Asn237= NC_000017.11:45286871:G:A p.(Asn237=) NC_000017.11:45286871:G:A p.(Asn237=) NC_000017.11:45286871:G:A Identity +NM_000721.4:c.6207G>A NP_000712.2:p.Glu2069= NC_000001.11:181796794:G:A p.(Glu2069=) NC_000001.11:181796794:G:A p.(Glu2069=) NC_000001.11:181796794:G:A Identity +NM_000158.4:c.18T>A NP_000149.4:p.Thr6= NC_000003.12:81761499:A:T p.(Thr6=) NC_000003.12:81761499:A:T p.(Thr6=) NC_000003.12:81761499:A:T Identity +NM_005045.4:c.6015G>A NP_005036.2:p.Glu2005= NC_000007.14:103553517:C:T p.(Glu2005=) NC_000007.14:103553517:C:T p.(Glu2005=) NC_000007.14:103553517:C:T Identity +NM_001346754.2:c.186T>C NP_001333683.1:p.Val62= NC_000017.11:36537286:T:C p.(Val62=) NC_000017.11:36537286:T:C p.(Val62=) NC_000017.11:36537286:T:C Identity +NM_001048171.2:c.1092G>A NP_001041636.2:p.Arg364= NC_000001.11:45331670:C:T p.(Arg364=) NC_000001.11:45331670:C:T p.(Arg364=) NC_000001.11:45331670:C:T Identity +NM_000287.4:c.558G>C NP_000278.3:p.Ala186= NC_000006.12:42978592:C:G p.(Ala186=) NC_000006.12:42978592:C:G p.(Ala186=) NC_000006.12:42978592:C:G Identity +NM_000445.5:c.8556C>G NP_000436.2:p.Pro2852= NC_000008.11:143921345:G:C p.(Pro2852=) NC_000008.11:143921345:G:C p.(Pro2852=) NC_000008.11:143921345:G:C Identity +NM_024408.4:c.4677C>T NP_077719.2:p.Leu1559= NC_000001.11:119923818:G:A p.(Leu1559=) NC_000001.11:119923818:G:A p.(Leu1559=) NC_000001.11:119923818:G:A Identity +NM_001288951.2:c.1824G>A NP_001275880.1:p.Lys608= NC_000002.12:47046335:G:A p.(Lys608=) NC_000002.12:47046335:G:A p.(Lys608=) NC_000002.12:47046335:G:A Identity +NM_001080114.2:c.705G>T NP_001073583.1:p.Thr235= NC_000010.11:86692051:G:T p.(Thr235=) NC_000010.11:86692051:G:T p.(Thr235=) NC_000010.11:86692051:G:T Identity +NM_001384474.1:c.2391C>T NP_001371403.1:p.Arg797= NC_000018.10:46566302:G:A p.(Arg797=) NC_000018.10:46566302:G:A p.(Arg797=) NC_000018.10:46566302:G:A Identity +NM_000548.5:c.5070C>T NP_000539.2:p.Asp1690= NC_000016.10:2088048:C:T p.(Asp1690=) NC_000016.10:2088048:C:T p.(Asp1690=) NC_000016.10:2088048:C:T Identity +NM_001258206.2:c.969G>A NP_001245135.1:p.Arg323= NC_000019.10:6828116:G:A p.(Arg323=) NC_000019.10:6828116:G:A p.(Arg323=) NC_000019.10:6828116:G:A Identity +NM_002180.3:c.177G>A NP_002171.2:p.Leu59= NC_000011.10:68906158:G:A p.(Leu59=) NC_000011.10:68906158:G:A p.(Leu59=) NC_000011.10:68906158:G:A Identity +NM_001201459.2:c.999T>C NP_001188388.1:p.Tyr333= NC_000002.12:27377985:A:G p.(Tyr333=) NC_000002.12:27377985:A:G p.(Tyr333=) NC_000002.12:27377985:A:G Identity +NM_001127487.2:c.8013C>T NP_001120959.1:p.Tyr2671= NC_000007.14:128858456:C:T p.(Tyr2671=) NC_000007.14:128858456:C:T p.(Tyr2671=) NC_000007.14:128858456:C:T Identity +NM_001278590.2:c.771T>C NP_001265519.1:p.Asp257= NC_000004.12:39471251:T:C p.(Asp257=) NC_000004.12:39471251:T:C p.(Asp257=) NC_000004.12:39471251:T:C Identity +NM_001166136.2:c.387T>A NP_001159608.1:p.Ile129= NC_000004.12:5689235:A:T p.(Ile129=) NC_000004.12:5689235:A:T p.(Ile129=) NC_000004.12:5689235:A:T Identity +NM_001256850.1:c.51120C>T NP_001243779.1:p.Asp17040= NC_000002.12:178600860:G:A p.(Asp17040=) NC_000002.12:178600860:G:A p.(Asp17040=) NC_000002.12:178600860:G:A Identity +NM_001006658.3:c.1410G>A NP_001006659.1:p.Ala470= NC_000001.11:207471003:G:A p.(Ala470=) NC_000001.11:207471003:G:A p.(Ala470=) NC_000001.11:207471003:G:A Identity +NM_001172643.1:c.105C>T NP_001166114.1:p.Cys35= NC_000016.10:66541911:G:A p.(Cys35=) NC_000016.10:66541911:G:A p.(Cys35=) NC_000016.10:66541911:G:A Identity +NM_000170.3:c.2577G>T NP_000161.2:p.Val859= NC_000009.12:6540138:C:A p.(Val859=) NC_000009.12:6540138:C:A p.(Val859=) NC_000009.12:6540138:C:A Identity +NM_001365999.1:c.4629C>T NP_001352928.1:p.Ser1543= NC_000001.11:43430643:C:T p.(Ser1543=) NC_000001.11:43430643:C:T p.(Ser1543=) NC_000001.11:43430643:C:T Identity +NM_001315529.2:c.6438G>A NP_001302458.1:p.Ala2146= NC_000021.9:46416709:G:A p.(Ala2146=) NC_000021.9:46416709:G:A p.(Ala2146=) NC_000021.9:46416709:G:A Identity +NM_001068.3:c.3123A>G NP_001059.2:p.Leu1041= NC_000003.12:25618774:T:C p.(Leu1041=) NC_000003.12:25618774:T:C p.(Leu1041=) NC_000003.12:25618774:T:C Identity +NM_001293306.2:c.159C>T NP_001280235.2:p.Pro53= NC_000003.12:38793851:G:A p.(Pro53=) NC_000003.12:38793851:G:A p.(Pro53=) NC_000003.12:38793851:G:A Identity +NM_005359.6:c.714G>A NP_005350.1:p.Leu238= NC_000018.10:51058170:G:A p.(Leu238=) NC_000018.10:51058170:G:A p.(Leu238=) NC_000018.10:51058170:G:A Identity +NM_001164507.2:c.17256C>T NP_001157979.2:p.Ala5752= NC_000002.12:151570254:G:A p.(Ala5752=) NC_000002.12:151570254:G:A p.(Ala5752=) NC_000002.12:151570254:G:A Identity +NM_000232.5:c.936C>T NP_000223.1:p.Asn312= NC_000004.12:52023977:G:A p.(Asn312=) NC_000004.12:52023977:G:A p.(Asn312=) NC_000004.12:52023977:G:A Identity +NM_001127207.2:c.1329A>C NP_001120679.1:p.Gly443= NC_000002.12:216428776:A:C p.(Gly443=) NC_000002.12:216428776:A:C p.(Gly443=) NC_000002.12:216428776:A:C Identity +NM_000343.4:c.951T>C NP_000334.1:p.Cys317= NC_000022.11:32084964:T:C p.(Cys317=) NC_000022.11:32084964:T:C p.(Cys317=) NC_000022.11:32084964:T:C Identity +NM_001256959.2:c.1860C>T NP_001243888.2:p.Asn620= NC_000001.11:11836098:C:T p.(Asn620=) NC_000001.11:11836098:C:T p.(Asn620=) NC_000001.11:11836098:C:T Identity +NM_021950.4:c.312G>A NP_068769.2:p.Thr104= NC_000011.10:60464319:G:A p.(Thr104=) NC_000011.10:60464319:G:A p.(Thr104=) NC_000011.10:60464319:G:A Identity +NM_002180.3:c.2862C>T NP_002171.2:p.Ser954= NC_000011.10:68939610:C:T p.(Ser954=) NC_000011.10:68939610:C:T p.(Ser954=) NC_000011.10:68939610:C:T Identity +NM_001369369.1:c.915T>C NP_001356298.1:p.Phe305= NC_000017.11:28530832:T:C p.(Phe305=) NC_000017.11:28530832:T:C p.(Phe305=) NC_000017.11:28530832:T:C Identity +NM_032444.4:c.1824G>A NP_115820.2:p.Glu608= NC_000016.10:3596252:C:T p.(Glu608=) NC_000016.10:3596252:C:T p.(Glu608=) NC_000016.10:3596252:C:T Identity +NM_001378120.1:c.798T>C NP_001365049.1:p.Ile266= NC_000002.12:148468740:T:C p.(Ile266=) NC_000002.12:148468740:T:C p.(Ile266=) NC_000002.12:148468740:T:C Identity +NM_001130955.2:c.1440C>T NP_001124427.2:p.Tyr480= NC_000019.10:7456387:C:T p.(Tyr480=) NC_000019.10:7456387:C:T p.(Tyr480=) NC_000019.10:7456387:C:T Identity +NM_001365536.1:c.655T>C NP_001352465.1:p.Leu219= NC_000002.12:166304270:A:G p.(Leu219=) NC_000002.12:166304270:A:G p.(Leu219=) NC_000002.12:166304270:A:G Identity +NM_001346897.2:c.2391C>T NP_001333826.1:p.Asn797= NC_000007.14:55191774:C:T p.(Asn797=) NC_000007.14:55191774:C:T p.(Asn797=) NC_000007.14:55191774:C:T Identity +NM_030665.4:c.3240C>G NP_109590.3:p.Pro1080= NC_000017.11:17796187:C:G p.(Pro1080=) NC_000017.11:17796187:C:G p.(Pro1080=) NC_000017.11:17796187:C:G Identity +NM_001723.7:c.5376T>C NP_001714.1:p.Asn1792= NC_000006.12:56618657:A:G p.(Asn1792=) NC_000006.12:56618657:A:G p.(Asn1792=) NC_000006.12:56618657:A:G Identity +NM_001318245.2:c.5457G>A NP_001305174.1:p.Leu1819= NC_000022.11:25921345:G:A p.(Leu1819=) NC_000022.11:25921345:G:A p.(Leu1819=) NC_000022.11:25921345:G:A Identity +NM_020964.3:c.3942G>A NP_066015.2:p.Lys1314= NC_000018.10:45912330:C:T p.(Lys1314=) NC_000018.10:45912330:C:T p.(Lys1314=) NC_000018.10:45912330:C:T Identity +NM_001201543.2:c.105C>G NP_001188472.1:p.Pro35= NC_000002.12:61853936:G:C p.(Pro35=) NC_000002.12:61853936:G:C p.(Pro35=) NC_000002.12:61853936:G:C Identity +NM_020376.4:c.1066C>T NP_065109.1:p.Leu356= NC_000011.10:824326:C:T p.(Leu356=) NC_000011.10:824326:C:T p.(Leu356=) NC_000011.10:824326:C:T Identity +NM_001083962.2:c.1725C>T NP_001077431.1:p.Ala575= NC_000018.10:55229000:G:A p.(Ala575=) NC_000018.10:55229000:G:A p.(Ala575=) NC_000018.10:55229000:G:A Identity +NM_000018.4:c.1338T>C NP_000009.1:p.Pro446= NC_000017.11:7223972:T:C p.(Pro446=) NC_000017.11:7223972:T:C p.(Pro446=) NC_000017.11:7223972:T:C Identity +NM_000833.5:c.120G>T NP_000824.1:p.Leu40= NC_000016.10:10180291:C:A p.(Leu40=) NC_000016.10:10180291:C:A p.(Leu40=) NC_000016.10:10180291:C:A Identity +NM_000109.4:c.9360T>C NP_000100.3:p.Ala3120= NC_000023.11:31209676:A:G p.(Ala3120=) NC_000023.11:31209676:A:G p.(Ala3120=) NC_000023.11:31209676:A:G Identity +NM_000335.5:c.4689C>T NP_000326.2:p.Asn1563= NC_000003.12:38554399:G:A p.(Asn1563=) NC_000003.12:38554399:G:A p.(Asn1563=) NC_000003.12:38554399:G:A Identity +NM_002299.4:c.4164T>G NP_002290.2:p.Ala1388= NC_000002.12:135807136:A:C p.(Ala1388=) NC_000002.12:135807136:A:C p.(Ala1388=) NC_000002.12:135807136:A:C Identity +NM_001367624.2:c.7431C>T NP_001354553.1:p.Cys2477= NC_000016.10:88434900:C:T p.(Cys2477=) NC_000016.10:88434900:C:T p.(Cys2477=) NC_000016.10:88434900:C:T Identity +NM_001100112.2:c.1467A>G NP_001093582.1:p.Gln489= NC_000017.11:10537784:T:C p.(Gln489=) NC_000017.11:10537784:T:C p.(Gln489=) NC_000017.11:10537784:T:C Identity +NM_001363711.2:c.3789G>A NP_001350640.1:p.Val1263= NC_000015.10:45097295:C:T p.(Val1263=) NC_000015.10:45097295:C:T p.(Val1263=) NC_000015.10:45097295:C:T Identity +NM_001114382.3:c.4821G>A NP_001107854.1:p.Val1607= NC_000016.10:2086771:G:A p.(Val1607=) NC_000016.10:2086771:G:A p.(Val1607=) NC_000016.10:2086771:G:A Identity +NM_001164507.2:c.4773C>G NP_001157979.2:p.Leu1591= NC_000002.12:151666347:G:C p.(Leu1591=) NC_000002.12:151666347:G:C p.(Leu1591=) NC_000002.12:151666347:G:C Identity +NM_001310332.2:c.757T>C NP_001297261.1:p.Leu253= NC_000014.9:24150609:T:C p.(Leu253=) NC_000014.9:24150609:T:C p.(Leu253=) NC_000014.9:24150609:T:C Identity +NM_000364.4:c.687C>T NP_000355.2:p.Asp229= NC_000001.11:201361935:G:A p.(Asp229=) NC_000001.11:201361935:G:A p.(Asp229=) NC_000001.11:201361935:G:A Identity +NM_001142929.2:c.180C>T NP_001136401.2:p.Thr60= NC_000010.11:49619870:C:T p.(Thr60=) NC_000010.11:49619870:C:T p.(Thr60=) NC_000010.11:49619870:C:T Identity +NM_014714.4:c.2373C>T NP_055529.2:p.Ala791= NC_000016.10:1557960:G:A p.(Ala791=) NC_000016.10:1557960:G:A p.(Ala791=) NC_000016.10:1557960:G:A Identity +NM_001369369.1:c.81C>T NP_001356298.1:p.Leu27= NC_000017.11:28524049:C:T p.(Leu27=) NC_000017.11:28524049:C:T p.(Leu27=) NC_000017.11:28524049:C:T Identity +NM_001195622.2:c.2322G>A NP_001182551.1:p.Glu774= NC_000009.12:32542007:C:T p.(Glu774=) NC_000009.12:32542007:C:T p.(Glu774=) NC_000009.12:32542007:C:T Identity +NM_001271466.4:c.1887C>G NP_001258395.2:p.Thr629= NC_000002.12:231344982:C:G p.(Thr629=) NC_000002.12:231344982:C:G p.(Thr629=) NC_000002.12:231344982:C:G Identity +NM_001193640.2:c.2490G>A NP_001180569.1:p.Val830= NC_000001.11:197429597:G:A p.(Val830=) NC_000001.11:197429597:G:A p.(Val830=) NC_000001.11:197429597:G:A Identity +NM_001379200.1:c.591C>T NP_001366129.1:p.Ala197= NC_000022.11:19764205:C:T p.(Ala197=) NC_000022.11:19764205:C:T p.(Ala197=) NC_000022.11:19764205:C:T Identity +NM_016580.4:c.2829C>T NP_057664.1:p.Phe943= NC_000005.10:141955022:G:A p.(Phe943=) NC_000005.10:141955022:G:A p.(Phe943=) NC_000005.10:141955022:G:A Identity +NM_016169.4:c.363C>A NP_057253.2:p.Thr121= NC_000010.11:102550014:C:A p.(Thr121=) NC_000010.11:102550014:C:A p.(Thr121=) NC_000010.11:102550014:C:A Identity +NM_001164507.2:c.2253A>G NP_001157979.2:p.Ala751= NC_000002.12:151690783:T:C p.(Ala751=) NC_000002.12:151690783:T:C p.(Ala751=) NC_000002.12:151690783:T:C Identity +NM_000019.4:c.39C>T NP_000010.1:p.Arg13= NC_000011.10:108121644:C:T p.(Arg13=) NC_000011.10:108121644:C:T p.(Arg13=) NC_000011.10:108121644:C:T Identity +NM_001160227.2:c.2616A>G NP_001153699.1:p.Pro872= NC_000015.10:44621762:T:C p.(Pro872=) NC_000015.10:44621762:T:C p.(Pro872=) NC_000015.10:44621762:T:C Identity +NM_005334.3:c.753G>A NP_005325.2:p.Ala251= NC_000023.11:153962265:C:T p.(Ala251=) NC_000023.11:153962265:C:T p.(Ala251=) NC_000023.11:153962265:C:T Identity +NM_001040134.2:c.81G>A NP_001035224.1:p.Glu27= NC_000019.10:727030:G:A p.(Glu27=) NC_000019.10:727030:G:A p.(Glu27=) NC_000019.10:727030:G:A Identity +NM_001283009.2:c.2679G>A NP_001269938.1:p.Thr893= NC_000020.11:63692830:G:A p.(Thr893=) NC_000020.11:63692830:G:A p.(Thr893=) NC_000020.11:63692830:G:A Identity +NM_001042465.3:c.126C>T NP_001035930.1:p.Cys42= NC_000010.11:71834419:G:A p.(Cys42=) NC_000010.11:71834419:G:A p.(Cys42=) NC_000010.11:71834419:G:A Identity +NM_001353765.2:c.60C>A NP_001340694.1:p.Ile20= NC_000002.12:29223436:G:T p.(Ile20=) NC_000002.12:29223436:G:T p.(Ile20=) NC_000002.12:29223436:G:T Identity +NM_001127178.3:c.2094T>C NP_001120650.1:p.Ser698= NC_000004.12:527062:T:C p.(Ser698=) NC_000004.12:527062:T:C p.(Ser698=) NC_000004.12:527062:T:C Identity +NM_000182.5:c.1731C>T NP_000173.2:p.Ser577= NC_000002.12:26193730:G:A p.(Ser577=) NC_000002.12:26193730:G:A p.(Ser577=) NC_000002.12:26193730:G:A Identity +NM_012469.4:c.798C>T NP_036601.2:p.Thr266= NC_000020.11:63999070:C:T p.(Thr266=) NC_000020.11:63999070:C:T p.(Thr266=) NC_000020.11:63999070:C:T Identity +NM_005045.4:c.3816C>A NP_005036.2:p.Ala1272= NC_000007.14:103593777:G:T p.(Ala1272=) NC_000007.14:103593777:G:T p.(Ala1272=) NC_000007.14:103593777:G:T Identity +NM_001126131.2:c.363C>G NP_001119603.1:p.Pro121= NC_000015.10:89333391:G:C p.(Pro121=) NC_000015.10:89333391:G:C p.(Pro121=) NC_000015.10:89333391:G:C Identity +NM_001363729.2:c.186G>C NP_001350658.1:p.Pro62= NC_000020.11:36951457:C:G p.(Pro62=) NC_000020.11:36951457:C:G p.(Pro62=) NC_000020.11:36951457:C:G Identity +NM_001321851.1:c.3861A>G NP_001308780.1:p.Leu1287= NC_000014.9:92004111:T:C p.(Leu1287=) NC_000014.9:92004111:T:C p.(Leu1287=) NC_000014.9:92004111:T:C Identity +NM_002661.5:c.1389T>C NP_002652.2:p.Asp463= NC_000016.10:81905428:T:C p.(Asp463=) NC_000016.10:81905428:T:C p.(Asp463=) NC_000016.10:81905428:T:C Identity +NM_000074.3:c.708G>A NP_000065.1:p.Ser236= NC_000023.11:136659336:G:A p.(Ser236=) NC_000023.11:136659336:G:A p.(Ser236=) NC_000023.11:136659336:G:A Identity +NM_001195286.2:c.447C>T NP_001182215.1:p.Ser149= NC_000006.12:395889:C:T p.(Ser149=) NC_000006.12:395889:C:T p.(Ser149=) NC_000006.12:395889:C:T Identity +NM_001378454.1:c.5115A>G NP_001365383.1:p.Pro1705= NC_000002.12:73451641:A:G p.(Pro1705=) NC_000002.12:73451641:A:G p.(Pro1705=) NC_000002.12:73451641:A:G Identity +NM_000273.3:c.270C>T NP_000264.2:p.Thr90= NC_000023.11:9760806:G:A p.(Thr90=) NC_000023.11:9760806:G:A p.(Thr90=) NC_000023.11:9760806:G:A Identity +NM_001166111.2:c.1800C>A NP_001159583.1:p.Arg600= NC_000019.10:7550070:C:A p.(Arg600=) NC_000019.10:7550070:C:A p.(Arg600=) NC_000019.10:7550070:C:A Identity +NM_001310332.2:c.2157C>T NP_001297261.1:p.Asp719= NC_000014.9:24157520:C:T p.(Asp719=) NC_000014.9:24157520:C:T p.(Asp719=) NC_000014.9:24157520:C:T Identity +NM_003482.4:c.10803A>G NP_003473.3:p.Gln3601= NC_000012.12:49033901:T:C p.(Gln3601=) NC_000012.12:49033901:T:C p.(Gln3601=) NC_000012.12:49033901:T:C Identity +NM_001128844.3:c.525C>T NP_001122316.1:p.Asn175= NC_000019.10:10986357:C:T p.(Asn175=) NC_000019.10:10986357:C:T p.(Asn175=) NC_000019.10:10986357:C:T Identity +NM_000158.4:c.1950A>G NP_000149.4:p.Leu650= NC_000003.12:81499211:T:C p.(Leu650=) NC_000003.12:81499211:T:C p.(Leu650=) NC_000003.12:81499211:T:C Identity +NM_001025107.3:c.2341C>T NP_001020278.1:p.Leu781= NC_000001.11:154585841:G:A p.(Leu781=) NC_000001.11:154585841:G:A p.(Leu781=) NC_000001.11:154585841:G:A Identity +NM_015311.3:c.4839G>A NP_056126.1:p.Ala1613= NC_000002.12:219554510:C:T p.(Ala1613=) NC_000002.12:219554510:C:T p.(Ala1613=) NC_000002.12:219554510:C:T Identity +NM_000244.4:c.387C>G NP_000235.3:p.Leu129= NC_000011.10:64809722:G:C p.(Leu129=) NC_000011.10:64809722:G:C p.(Leu129=) NC_000011.10:64809722:G:C Identity +NM_016938.5:c.1221C>A NP_058634.4:p.Gly407= NC_000011.10:65867028:G:T p.(Gly407=) NC_000011.10:65867028:G:T p.(Gly407=) NC_000011.10:65867028:G:T Identity +NM_001182.5:c.384A>G NP_001173.2:p.Leu128= NC_000005.10:126583940:T:C p.(Leu128=) NC_000005.10:126583940:T:C p.(Leu128=) NC_000005.10:126583940:T:C Identity +NM_178862.3:c.153G>C NP_849193.1:p.Pro51= NC_000003.12:31533150:G:C p.(Pro51=) NC_000003.12:31533150:G:C p.(Pro51=) NC_000003.12:31533150:G:C Identity +NM_001142763.2:c.339G>A NP_001136235.1:p.Pro113= NC_000010.11:54369269:C:T p.(Pro113=) NC_000010.11:54369269:C:T p.(Pro113=) NC_000010.11:54369269:C:T Identity +NM_032043.3:c.3102C>T NP_114432.2:p.Pro1034= NC_000017.11:61683943:G:A p.(Pro1034=) NC_000017.11:61683943:G:A p.(Pro1034=) NC_000017.11:61683943:G:A Identity +NM_001145412.3:c.1761G>A NP_001138884.1:p.Lys587= NC_000002.12:177230793:C:T p.(Lys587=) NC_000002.12:177230793:C:T p.(Lys587=) NC_000002.12:177230793:C:T Identity +NM_001026.5:c.234C>T NP_001017.1:p.Ser78= NC_000010.11:78035674:C:T p.(Ser78=) NC_000010.11:78035674:C:T p.(Ser78=) NC_000010.11:78035674:C:T Identity +NM_000481.4:c.666C>T NP_000472.2:p.Arg222= NC_000003.12:49419289:G:A p.(Arg222=) NC_000003.12:49419289:G:A p.(Arg222=) NC_000003.12:49419289:G:A Identity +NM_001291860.2:c.1104C>T NP_001278789.1:p.Cys368= NC_000001.11:21885425:G:A p.(Cys368=) NC_000001.11:21885425:G:A p.(Cys368=) NC_000001.11:21885425:G:A Identity +NM_001354263.2:c.3495T>C NP_001341192.1:p.Ser1165= NC_000009.12:137818113:T:C p.(Ser1165=) NC_000009.12:137818113:T:C p.(Ser1165=) NC_000009.12:137818113:T:C Identity +NM_000521.4:c.12C>T NP_000512.2:p.Cys4= NC_000005.10:74685271:C:T p.(Cys4=) NC_000005.10:74685271:C:T p.(Cys4=) NC_000005.10:74685271:C:T Identity +NM_001001438.3:c.1122C>T NP_001001438.1:p.Asp374= NC_000021.9:46213039:G:A p.(Asp374=) NC_000021.9:46213039:G:A p.(Asp374=) NC_000021.9:46213039:G:A Identity +NM_000528.4:c.2637C>T NP_000519.2:p.Tyr879= NC_000019.10:12648201:G:A p.(Tyr879=) NC_000019.10:12648201:G:A p.(Tyr879=) NC_000019.10:12648201:G:A Identity +NM_001375654.1:c.531C>T NP_001362583.1:p.Thr177= NC_000008.11:54621496:C:T p.(Thr177=) NC_000008.11:54621496:C:T p.(Thr177=) NC_000008.11:54621496:C:T Identity +NM_000532.5:c.9G>A NP_000523.2:p.Ala3= NC_000003.12:136250383:G:A p.(Ala3=) NC_000003.12:136250383:G:A p.(Ala3=) NC_000003.12:136250383:G:A Identity +NM_015346.4:c.7029C>T NP_056161.2:p.Phe2343= NC_000014.9:67754169:G:A p.(Phe2343=) NC_000014.9:67754169:G:A p.(Phe2343=) NC_000014.9:67754169:G:A Identity +NM_001164507.2:c.7398T>C NP_001157979.2:p.Val2466= NC_000002.12:151650208:A:G p.(Val2466=) NC_000002.12:151650208:A:G p.(Val2466=) NC_000002.12:151650208:A:G Identity +NM_002890.3:c.474T>C NP_002881.1:p.Ser158= NC_000005.10:87268924:T:C p.(Ser158=) NC_000005.10:87268924:T:C p.(Ser158=) NC_000005.10:87268924:T:C Identity +NM_139058.3:c.1257C>T NP_620689.1:p.Phe419= NC_000023.11:25007301:G:A p.(Phe419=) NC_000023.11:25007301:G:A p.(Phe419=) NC_000023.11:25007301:G:A Identity +NM_020699.4:c.1365T>C NP_065750.1:p.Ala455= NC_000001.11:153813303:A:G p.(Ala455=) NC_000001.11:153813303:A:G p.(Ala455=) NC_000001.11:153813303:A:G Identity +NM_001350935.2:c.558A>G NP_001337864.1:p.Gly186= NC_000012.12:122482030:T:C p.(Gly186=) NC_000012.12:122482030:T:C p.(Gly186=) NC_000012.12:122482030:T:C Identity +NM_003265.3:c.1713C>T NP_003256.1:p.Ser571= NC_000004.12:186083398:C:T p.(Ser571=) NC_000004.12:186083398:C:T p.(Ser571=) NC_000004.12:186083398:C:T Identity +NM_000321.3:c.1629A>T NP_000312.2:p.Thr543= NC_000013.11:48381376:A:T p.(Thr543=) NC_000013.11:48381376:A:T p.(Thr543=) NC_000013.11:48381376:A:T Identity +NM_181882.3:c.930C>T NP_870998.2:p.Pro310= NC_000019.10:40397421:G:A p.(Pro310=) NC_000019.10:40397421:G:A p.(Pro310=) NC_000019.10:40397421:G:A Identity +NM_005055.5:c.1194C>T NP_005046.2:p.Ser398= NC_000011.10:47438019:G:A p.(Ser398=) NC_000011.10:47438019:G:A p.(Ser398=) NC_000011.10:47438019:G:A Identity +NM_001081640.2:c.9963G>A NP_001075109.1:p.Leu3321= NC_000008.11:47800945:C:T p.(Leu3321=) NC_000008.11:47800945:C:T p.(Leu3321=) NC_000008.11:47800945:C:T Identity +NM_000425.5:c.2715C>T NP_000416.1:p.Pro905= NC_000023.11:153865332:G:A p.(Pro905=) NC_000023.11:153865332:G:A p.(Pro905=) NC_000023.11:153865332:G:A Identity +NM_000264.5:c.3087G>A NP_000255.2:p.Leu1029= NC_000009.12:95458093:C:T p.(Leu1029=) NC_000009.12:95458093:C:T p.(Leu1029=) NC_000009.12:95458093:C:T Identity +NM_000081.4:c.11244C>A NP_000072.2:p.Pro3748= NC_000001.11:235664006:G:T p.(Pro3748=) NC_000001.11:235664006:G:T p.(Pro3748=) NC_000001.11:235664006:G:T Identity +NM_001363520.3:c.453T>C NP_001350449.1:p.Val151= NC_000004.12:127942144:A:G p.(Val151=) NC_000004.12:127942144:A:G p.(Val151=) NC_000004.12:127942144:A:G Identity +NM_005477.3:c.2457C>T NP_005468.1:p.Ala819= NC_000015.10:73323635:G:A p.(Ala819=) NC_000015.10:73323635:G:A p.(Ala819=) NC_000015.10:73323635:G:A Identity +NM_001348250.2:c.1152C>T NP_001335179.1:p.Leu384= NC_000003.12:11028807:C:T p.(Leu384=) NC_000003.12:11028807:C:T p.(Leu384=) NC_000003.12:11028807:C:T Identity +NM_052859.4:c.373C>T NP_443091.1:p.Leu125= NC_000003.12:53122456:G:A p.(Leu125=) NC_000003.12:53122456:G:A p.(Leu125=) NC_000003.12:53122456:G:A Identity +NM_001165962.2:c.2106A>G NP_001159434.1:p.Lys702= NC_000017.11:12993713:T:C p.(Lys702=) NC_000017.11:12993713:T:C p.(Lys702=) NC_000017.11:12993713:T:C Identity +NM_001291285.3:c.13848G>A NP_001278214.1:p.Gln4616= NC_000004.12:125490666:G:A p.(Gln4616=) NC_000004.12:125490666:G:A p.(Gln4616=) NC_000004.12:125490666:G:A Identity +NM_000495.5:c.4494C>T NP_000486.1:p.Ala1498= NC_000023.11:108687677:C:T p.(Ala1498=) NC_000023.11:108687677:C:T p.(Ala1498=) NC_000023.11:108687677:C:T Identity +NM_147127.5:c.33G>A NP_667338.3:p.Thr11= NC_000004.12:5708480:C:T p.(Thr11=) NC_000004.12:5708480:C:T p.(Thr11=) NC_000004.12:5708480:C:T Identity +NM_001353231.2:c.1257G>T NP_001340160.1:p.Gly419= NC_000017.11:17216422:C:A p.(Gly419=) NC_000017.11:17216422:C:A p.(Gly419=) NC_000017.11:17216422:C:A Identity +NM_001130955.2:c.1965G>A NP_001124427.2:p.Ala655= NC_000019.10:7463872:G:A p.(Ala655=) NC_000019.10:7463872:G:A p.(Ala655=) NC_000019.10:7463872:G:A Identity +NM_012479.4:c.586T>C NP_036611.2:p.Leu196= NC_000007.14:76329734:A:G p.(Leu196=) NC_000007.14:76329734:A:G p.(Leu196=) NC_000007.14:76329734:A:G Identity +NM_001320412.2:c.534G>A NP_001307341.1:p.Ala178= NC_000021.9:46151659:C:T p.(Ala178=) NC_000021.9:46151659:C:T p.(Ala178=) NC_000021.9:46151659:C:T Identity +NM_001256876.3:c.1926A>G NP_001243805.1:p.Pro642= NC_000009.12:712691:A:G p.(Pro642=) NC_000009.12:712691:A:G p.(Pro642=) NC_000009.12:712691:A:G Identity +NM_199242.3:c.2337G>A NP_954712.1:p.Val779= NC_000017.11:75834104:C:T p.(Val779=) NC_000017.11:75834104:C:T p.(Val779=) NC_000017.11:75834104:C:T Identity +NM_001038603.3:c.186C>T NP_001033692.2:p.Tyr62= NC_000005.10:69419570:C:T p.(Tyr62=) NC_000005.10:69419570:C:T p.(Tyr62=) NC_000005.10:69419570:C:T Identity +NM_001353765.2:c.1344C>T NP_001340694.1:p.Thr448= NC_000002.12:29193538:G:A p.(Thr448=) NC_000002.12:29193538:G:A p.(Thr448=) NC_000002.12:29193538:G:A Identity +NM_001291593.2:c.1953T>C NP_001278522.1:p.Leu651= NC_000001.11:5867095:A:G p.(Leu651=) NC_000001.11:5867095:A:G p.(Leu651=) NC_000001.11:5867095:A:G Identity +NM_001291285.3:c.6672C>G NP_001278214.1:p.Thr2224= NC_000004.12:125415634:C:G p.(Thr2224=) NC_000004.12:125415634:C:G p.(Thr2224=) NC_000004.12:125415634:C:G Identity +NM_001159508.3:c.474C>T NP_001152980.2:p.Ile158= NC_000015.10:40411567:C:T p.(Ile158=) NC_000015.10:40411567:C:T p.(Ile158=) NC_000015.10:40411567:C:T Identity +NM_001165412.2:c.492C>T NP_001158884.1:p.Gly164= NC_000004.12:102576962:C:T p.(Gly164=) NC_000004.12:102576962:C:T p.(Gly164=) NC_000004.12:102576962:C:T Identity +NM_001376.5:c.5694C>T NP_001367.2:p.Ala1898= NC_000014.9:102006147:C:T p.(Ala1898=) NC_000014.9:102006147:C:T p.(Ala1898=) NC_000014.9:102006147:C:T Identity +NM_001350234.2:c.1980C>T NP_001337163.1:p.Ala660= NC_000001.11:9721787:C:T p.(Ala660=) NC_000001.11:9721787:C:T p.(Ala660=) NC_000001.11:9721787:C:T Identity +NM_004629.2:c.678C>T NP_004620.1:p.Asp226= NC_000009.12:35077069:G:A p.(Asp226=) NC_000009.12:35077069:G:A p.(Asp226=) NC_000009.12:35077069:G:A Identity +NM_001127487.2:c.4878C>T NP_001120959.1:p.Phe1626= NC_000007.14:128848932:C:T p.(Phe1626=) NC_000007.14:128848932:C:T p.(Phe1626=) NC_000007.14:128848932:C:T Identity +NM_001363813.1:c.1827C>T NP_001350742.1:p.Pro609= NC_000017.11:65536438:G:A p.(Pro609=) NC_000017.11:65536438:G:A p.(Pro609=) NC_000017.11:65536438:G:A Identity +NM_001365536.1:c.4035C>A NP_001352465.1:p.Gly1345= NC_000002.12:166228861:G:T p.(Gly1345=) NC_000002.12:166228861:G:T p.(Gly1345=) NC_000002.12:166228861:G:T Identity +NM_001382218.1:c.1146G>A NP_001369147.1:p.Leu382= NC_000007.14:128997400:C:T p.(Leu382=) NC_000007.14:128997400:C:T p.(Leu382=) NC_000007.14:128997400:C:T Identity +NM_001114094.2:c.144T>C NP_001107566.1:p.Pro48= NC_000010.11:96242753:A:G p.(Pro48=) NC_000010.11:96242753:A:G p.(Pro48=) NC_000010.11:96242753:A:G Identity +NM_000431.4:c.603C>T NP_000422.1:p.Ser201= NC_000012.12:109586096:C:T p.(Ser201=) NC_000012.12:109586096:C:T p.(Ser201=) NC_000012.12:109586096:C:T Identity +NM_004863.4:c.874T>C NP_004854.1:p.Leu292= NC_000014.9:77557122:A:G p.(Leu292=) NC_000014.9:77557122:A:G p.(Leu292=) NC_000014.9:77557122:A:G Identity +NM_000158.4:c.501A>G NP_000149.4:p.Glu167= NC_000003.12:81649849:T:C p.(Glu167=) NC_000003.12:81649849:T:C p.(Glu167=) NC_000003.12:81649849:T:C Identity +NM_001370085.1:c.1215T>C NP_001357014.1:p.Leu405= NC_000020.11:761220:A:G p.(Leu405=) NC_000020.11:761220:A:G p.(Leu405=) NC_000020.11:761220:A:G Identity +NM_033071.5:c.20394A>G NP_149062.2:p.Leu6798= NC_000006.12:152233885:T:C p.(Leu6798=) NC_000006.12:152233885:T:C p.(Leu6798=) NC_000006.12:152233885:T:C Identity +NM_032737.4:c.282G>A NP_116126.3:p.Ala94= NC_000019.10:2444522:C:T p.(Ala94=) NC_000019.10:2444522:C:T p.(Ala94=) NC_000019.10:2444522:C:T Identity +NM_001164507.2:c.12930T>C NP_001157979.2:p.Ile4310= NC_000002.12:151604688:A:G p.(Ile4310=) NC_000002.12:151604688:A:G p.(Ile4310=) NC_000002.12:151604688:A:G Identity +NM_014510.3:c.3924A>G NP_055325.2:p.Lys1308= NC_000007.14:82965863:T:C p.(Lys1308=) NC_000007.14:82965863:T:C p.(Lys1308=) NC_000007.14:82965863:T:C Identity +NM_001256850.1:c.13272T>C NP_001243779.1:p.Tyr4424= NC_000002.12:178738229:A:G p.(Tyr4424=) NC_000002.12:178738229:A:G p.(Tyr4424=) NC_000002.12:178738229:A:G Identity +NM_015180.6:c.14451A>G NP_055995.4:p.Thr4817= NC_000014.9:64132374:A:G p.(Thr4817=) NC_000014.9:64132374:A:G p.(Thr4817=) NC_000014.9:64132374:A:G Identity +NM_001350417.2:c.762C>A NP_001337346.1:p.Pro254= NC_000006.12:72250427:C:A p.(Pro254=) NC_000006.12:72250427:C:A p.(Pro254=) NC_000006.12:72250427:C:A Identity +NM_001039675.2:c.1731G>A NP_001034764.1:p.Ala577= NC_000015.10:90948691:G:A p.(Ala577=) NC_000015.10:90948691:G:A p.(Ala577=) NC_000015.10:90948691:G:A Identity +NM_001033053.3:c.792T>C NP_001028225.1:p.Cys264= NC_000017.11:5559903:A:G p.(Cys264=) NC_000017.11:5559903:A:G p.(Cys264=) NC_000017.11:5559903:A:G Identity +NM_004204.5:c.1281G>A NP_004195.2:p.Lys427= NC_000016.10:579125:G:A p.(Lys427=) NC_000016.10:579125:G:A p.(Lys427=) NC_000016.10:579125:G:A Identity +NM_000271.5:c.1038C>T NP_000262.2:p.Cys346= NC_000018.10:23556530:G:A p.(Cys346=) NC_000018.10:23556530:G:A p.(Cys346=) NC_000018.10:23556530:G:A Identity +NM_012092.4:c.522C>T NP_036224.1:p.His174= NC_000002.12:203957818:C:T p.(His174=) NC_000002.12:203957818:C:T p.(His174=) NC_000002.12:203957818:C:T Identity +NM_003482.4:c.14607G>A NP_003473.3:p.Leu4869= NC_000012.12:49027838:C:T p.(Leu4869=) NC_000012.12:49027838:C:T p.(Leu4869=) NC_000012.12:49027838:C:T Identity +NM_001048166.1:c.882A>C NP_001041631.1:p.Ser294= NC_000001.11:47289575:T:G p.(Ser294=) NC_000001.11:47289575:T:G p.(Ser294=) NC_000001.11:47289575:T:G Identity +NM_001379200.1:c.1125C>T NP_001366129.1:p.Ala375= NC_000022.11:19766476:C:T p.(Ala375=) NC_000022.11:19766476:C:T p.(Ala375=) NC_000022.11:19766476:C:T Identity +NM_001364837.1:c.903A>G NP_001351766.1:p.Gly301= NC_000014.9:64425776:A:G p.(Gly301=) NC_000014.9:64425776:A:G p.(Gly301=) NC_000014.9:64425776:A:G Identity +NM_001080976.3:c.864G>A NP_001074445.1:p.Pro288= NC_000006.12:116431146:G:A p.(Pro288=) NC_000006.12:116431146:G:A p.(Pro288=) NC_000006.12:116431146:G:A Identity +NM_001142294.2:c.1989G>A NP_001135766.1:p.Lys663= NC_000013.11:36304376:C:T p.(Lys663=) NC_000013.11:36304376:C:T p.(Lys663=) NC_000013.11:36304376:C:T Identity +NM_001127221.2:c.129G>C NP_001120693.1:p.Gly43= NC_000019.10:13506095:C:G p.(Gly43=) NC_000019.10:13506095:C:G p.(Gly43=) NC_000019.10:13506095:C:G Identity +NM_001388492.1:c.4056A>G NP_001375421.1:p.Pro1352= NC_000004.12:3173020:A:G p.(Pro1352=) NC_000004.12:3173020:A:G p.(Pro1352=) NC_000004.12:3173020:A:G Identity +NM_001185039.2:c.558T>C NP_001171968.1:p.Gly186= NC_000017.11:75955667:A:G p.(Gly186=) NC_000017.11:75955667:A:G p.(Gly186=) NC_000017.11:75955667:A:G Identity +NM_001037333.3:c.912G>C NP_001032410.1:p.Val304= NC_000005.10:157309753:G:C p.(Val304=) NC_000005.10:157309753:G:C p.(Val304=) NC_000005.10:157309753:G:C Identity +NM_001001890.3:c.1278G>A NP_001001890.1:p.Val426= NC_000021.9:34792218:C:T p.(Val426=) NC_000021.9:34792218:C:T p.(Val426=) NC_000021.9:34792218:C:T Identity +NM_003265.3:c.2007T>C NP_003256.1:p.Pro669= NC_000004.12:186083692:T:C p.(Pro669=) NC_000004.12:186083692:T:C p.(Pro669=) NC_000004.12:186083692:T:C Identity +NM_001024688.3:c.1218T>C NP_001019859.1:p.Ser406= NC_000008.11:89953624:A:G p.(Ser406=) NC_000008.11:89953624:A:G p.(Ser406=) NC_000008.11:89953624:A:G Identity +NM_012203.2:c.477C>T NP_036335.1:p.Ile159= NC_000009.12:37428555:C:T p.(Ile159=) NC_000009.12:37428555:C:T p.(Ile159=) NC_000009.12:37428555:C:T Identity +NM_001279354.2:c.366A>T NP_001266283.1:p.Thr122= NC_000001.11:150077128:A:T p.(Thr122=) NC_000001.11:150077128:A:T p.(Thr122=) NC_000001.11:150077128:A:T Identity +NM_001281303.2:c.454C>T NP_001268232.1:p.Leu152= NC_000009.12:92068071:G:A p.(Leu152=) NC_000009.12:92068071:G:A p.(Leu152=) NC_000009.12:92068071:G:A Identity +NM_000048.4:c.1311T>C NP_000039.2:p.Tyr437= NC_000007.14:66092827:T:C p.(Tyr437=) NC_000007.14:66092827:T:C p.(Tyr437=) NC_000007.14:66092827:T:C Identity +NM_001127207.2:c.1767G>A NP_001120679.1:p.Glu589= NC_000002.12:216447073:G:A p.(Glu589=) NC_000002.12:216447073:G:A p.(Glu589=) NC_000002.12:216447073:G:A Identity +NM_003742.4:c.1821G>A NP_003733.2:p.Gly607= NC_000002.12:168969539:C:T p.(Gly607=) NC_000002.12:168969539:C:T p.(Gly607=) NC_000002.12:168969539:C:T Identity +NM_001128227.3:c.1731C>A NP_001121699.1:p.Ile577= NC_000009.12:36220015:G:T p.(Ile577=) NC_000009.12:36220015:G:T p.(Ile577=) NC_000009.12:36220015:G:T Identity +NM_003482.4:c.8886G>A NP_003473.3:p.Glu2962= NC_000012.12:49038469:C:T p.(Glu2962=) NC_000012.12:49038469:C:T p.(Glu2962=) NC_000012.12:49038469:C:T Identity +NM_001172818.1:c.1722T>G NP_001166289.1:p.Thr574= NC_000001.11:63659653:T:G p.(Thr574=) NC_000001.11:63659653:T:G p.(Thr574=) NC_000001.11:63659653:T:G Identity +NM_000168.6:c.2361T>C NP_000159.3:p.Asn787= NC_000007.14:41967665:A:G p.(Asn787=) NC_000007.14:41967665:A:G p.(Asn787=) NC_000007.14:41967665:A:G Identity +NM_001167734.2:c.108C>T NP_001161206.1:p.Leu36= NC_000006.12:30914853:C:T p.(Leu36=) NC_000006.12:30914853:C:T p.(Leu36=) NC_000006.12:30914853:C:T Identity +NM_000187.4:c.810G>A NP_000178.2:p.Gly270= NC_000003.12:120641657:C:T p.(Gly270=) NC_000003.12:120641657:C:T p.(Gly270=) NC_000003.12:120641657:C:T Identity +NM_001145661.2:c.1116C>T NP_001139133.1:p.Ala372= NC_000003.12:128481845:G:A p.(Ala372=) NC_000003.12:128481845:G:A p.(Ala372=) NC_000003.12:128481845:G:A Identity +NM_000227.6:c.1053C>T NP_000218.3:p.Asn351= NC_000018.10:23899330:C:T p.(Asn351=) NC_000018.10:23899330:C:T p.(Asn351=) NC_000018.10:23899330:C:T Identity +NM_001384732.1:c.3048A>G NP_001371661.1:p.Pro1016= NC_000005.10:37206297:T:C p.(Pro1016=) NC_000005.10:37206297:T:C p.(Pro1016=) NC_000005.10:37206297:T:C Identity +LRG_1150t1:c.3441C>T LRG_1150p1:p.Leu1147= NC_000018.10:44952780:C:T ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found +NM_001278055.2:c.2659T>C NP_001264984.1:p.Leu887= NC_000013.11:23340775:A:G p.(Leu887=) NC_000013.11:23340775:A:G p.(Leu887=) NC_000013.11:23340775:A:G Identity +NM_003906.5:c.2751C>T NP_003897.2:p.Thr917= NC_000021.9:46267019:G:A p.(Thr917=) NC_000021.9:46267019:G:A p.(Thr917=) NC_000021.9:46267019:G:A Identity +NM_001160210.2:c.1497C>T NP_001153682.1:p.Ala499= NC_000007.14:96131839:G:A p.(Ala499=) NC_000007.14:96131839:G:A p.(Ala499=) NC_000007.14:96131839:G:A Identity +NM_001085049.3:c.609G>A NP_001078518.1:p.Leu203= NC_000003.12:138402250:G:A p.(Leu203=) NC_000003.12:138402250:G:A p.(Leu203=) NC_000003.12:138402250:G:A Identity +NM_001008844.3:c.4101G>A NP_001008844.1:p.Leu1367= NC_000006.12:7583159:G:A p.(Leu1367=) NC_000006.12:7583159:G:A p.(Leu1367=) NC_000006.12:7583159:G:A Identity +NM_000018.4:c.1131G>A NP_000009.1:p.Gly377= NC_000017.11:7223185:G:A p.(Gly377=) NC_000017.11:7223185:G:A p.(Gly377=) NC_000017.11:7223185:G:A Identity +NM_001134363.3:c.333C>G NP_001127835.2:p.Thr111= NC_000010.11:110780941:C:G p.(Thr111=) NC_000010.11:110780941:C:G p.(Thr111=) NC_000010.11:110780941:C:G Identity +NM_001354726.2:c.1017A>G NP_001341655.1:p.Leu339= NC_000003.12:14158286:T:C p.(Leu339=) NC_000003.12:14158286:T:C p.(Leu339=) NC_000003.12:14158286:T:C Identity +NM_004369.4:c.7491C>T NP_004360.2:p.Asn2497= NC_000002.12:237344526:G:A p.(Asn2497=) NC_000002.12:237344526:G:A p.(Asn2497=) NC_000002.12:237344526:G:A Identity +NM_001069.3:c.1290C>T NP_001060.1:p.Ala430= NC_000006.12:3153910:G:A p.(Ala430=) NC_000006.12:3153910:G:A p.(Ala430=) NC_000006.12:3153910:G:A Identity +NM_001271.4:c.3897G>T NP_001262.3:p.Val1299= NC_000015.10:92998509:G:T p.(Val1299=) NC_000015.10:92998509:G:T p.(Val1299=) NC_000015.10:92998509:G:T Identity +NM_001278511.2:c.3066T>C NP_001265440.1:p.Ala1022= NC_000015.10:82659646:A:G p.(Ala1022=) NC_000015.10:82659646:A:G p.(Ala1022=) NC_000015.10:82659646:A:G Identity +NM_001873.4:c.381G>A NP_001864.1:p.Leu127= NC_000004.12:165464462:G:A p.(Leu127=) NC_000004.12:165464462:G:A p.(Leu127=) NC_000004.12:165464462:G:A Identity +NM_172083.3:c.1239G>A NP_742080.1:p.Thr413= NC_000007.14:44220262:C:T p.(Thr413=) NC_000007.14:44220262:C:T p.(Thr413=) NC_000007.14:44220262:C:T Identity +NM_005559.4:c.5289G>A NP_005550.2:p.Ala1763= NC_000018.10:6986226:C:T p.(Ala1763=) NC_000018.10:6986226:C:T p.(Ala1763=) NC_000018.10:6986226:C:T Identity +NM_000243.3:c.2121C>G NP_000234.1:p.Thr707= NC_000016.10:3243365:G:C p.(Thr707=) NC_000016.10:3243365:G:C p.(Thr707=) NC_000016.10:3243365:G:C Identity +NM_000377.3:c.768T>C NP_000368.1:p.Asn256= NC_000023.11:48688086:T:C p.(Asn256=) NC_000023.11:48688086:T:C p.(Asn256=) NC_000023.11:48688086:T:C Identity +NM_001232.4:c.861C>T NP_001223.2:p.Ile287= NC_000001.11:115705269:G:A p.(Ile287=) NC_000001.11:115705269:G:A p.(Ile287=) NC_000001.11:115705269:G:A Identity +NM_001282538.2:c.375C>T NP_001269467.1:p.His125= NC_000001.11:1790418:G:A p.(His125=) NC_000001.11:1790418:G:A p.(His125=) NC_000001.11:1790418:G:A Identity +NM_004646.4:c.144A>C NP_004637.1:p.Ser48= NC_000019.10:35851586:T:G p.(Ser48=) NC_000019.10:35851586:T:G p.(Ser48=) NC_000019.10:35851586:T:G Identity +NM_000275.3:c.897G>A NP_000266.2:p.Thr299= NC_000015.10:28014922:C:T p.(Thr299=) NC_000015.10:28014922:C:T p.(Thr299=) NC_000015.10:28014922:C:T Identity +NM_000339.3:c.570A>C NP_000330.3:p.Ser190= NC_000016.10:56869792:A:C p.(Ser190=) NC_000016.10:56869792:A:C p.(Ser190=) NC_000016.10:56869792:A:C Identity +NM_014510.3:c.8298A>G NP_055325.2:p.Lys2766= NC_000007.14:82952654:T:C p.(Lys2766=) NC_000007.14:82952654:T:C p.(Lys2766=) NC_000007.14:82952654:T:C Identity +NM_001163817.2:c.1347C>T NP_001157289.1:p.His449= NC_000011.10:71435455:G:A p.(His449=) NC_000011.10:71435455:G:A p.(His449=) NC_000011.10:71435455:G:A Identity +NM_001320665.2:c.402T>C NP_001307594.1:p.Asp134= NC_000015.10:72716846:T:C p.(Asp134=) NC_000015.10:72716846:T:C p.(Asp134=) NC_000015.10:72716846:T:C Identity +NM_001037343.2:c.1821T>G NP_001032420.1:p.Arg607= NC_000023.11:18604744:T:G p.(Arg607=) NC_000023.11:18604744:T:G p.(Arg607=) NC_000023.11:18604744:T:G Identity +NM_013432.5:c.1135C>T NP_038460.4:p.Leu379= NC_000008.11:144440746:G:A p.(Leu379=) NC_000008.11:144440746:G:A p.(Leu379=) NC_000008.11:144440746:G:A Identity +NM_001271208.2:c.6489G>A NP_001258137.2:p.Gln2163= NC_000002.12:151656158:C:T p.(Gln2163=) NC_000002.12:151656158:C:T p.(Gln2163=) NC_000002.12:151656158:C:T Identity +NM_032444.4:c.4539T>C NP_115820.2:p.Val1513= NC_000016.10:3589098:A:G p.(Val1513=) NC_000016.10:3589098:A:G p.(Val1513=) NC_000016.10:3589098:A:G Identity +NM_015425.6:c.4014C>T NP_056240.2:p.Ile1338= NC_000002.12:86038719:G:A p.(Ile1338=) NC_000002.12:86038719:G:A p.(Ile1338=) NC_000002.12:86038719:G:A Identity +NM_001345962.2:c.309A>G NP_001332891.1:p.Val103= NC_000004.12:83467498:T:C p.(Val103=) NC_000004.12:83467498:T:C p.(Val103=) NC_000004.12:83467498:T:C Identity +NM_052963.3:c.147C>T NP_443195.1:p.Asp49= NC_000008.11:143331314:G:A p.(Asp49=) NC_000008.11:143331314:G:A p.(Asp49=) NC_000008.11:143331314:G:A Identity +NM_001711.6:c.231C>T NP_001702.1:p.Ser77= NC_000023.11:153504861:C:T p.(Ser77=) NC_000023.11:153504861:C:T p.(Ser77=) NC_000023.11:153504861:C:T Identity +NM_020928.2:c.960A>G NP_065979.1:p.Thr320= NC_000005.10:61472963:A:G p.(Thr320=) NC_000005.10:61472963:A:G p.(Thr320=) NC_000005.10:61472963:A:G Identity +NM_001943.5:c.3004C>T NP_001934.2:p.Leu1002= NC_000018.10:31546389:C:T p.(Leu1002=) NC_000018.10:31546389:C:T p.(Leu1002=) NC_000018.10:31546389:C:T Identity +NM_000227.6:c.4942C>T NP_000218.3:p.Leu1648= NC_000018.10:23953021:C:T p.(Leu1648=) NC_000018.10:23953021:C:T p.(Leu1648=) NC_000018.10:23953021:C:T Identity +NM_001013838.3:c.2412C>T NP_001013860.1:p.Cys804= NC_000016.10:67651498:C:T p.(Cys804=) NC_000016.10:67651498:C:T p.(Cys804=) NC_000016.10:67651498:C:T Identity +NM_006493.4:c.957A>G NP_006484.2:p.Lys319= NC_000013.11:77000848:A:G p.(Lys319=) NC_000013.11:77000848:A:G p.(Lys319=) NC_000013.11:77000848:A:G Identity +NM_001190274.2:c.972C>T NP_001177203.1:p.Asn324= NC_000002.12:47833032:G:A p.(Asn324=) NC_000002.12:47833032:G:A p.(Asn324=) NC_000002.12:47833032:G:A Identity +NM_005055.5:c.750C>T NP_005046.2:p.Leu250= NC_000011.10:47441861:G:A p.(Leu250=) NC_000011.10:47441861:G:A p.(Leu250=) NC_000011.10:47441861:G:A Identity +NM_001220.5:c.546C>T NP_001211.3:p.Ser182= NC_000007.14:44243304:G:A p.(Ser182=) NC_000007.14:44243304:G:A p.(Ser182=) NC_000007.14:44243304:G:A Identity +NM_017841.4:c.450G>A NP_060311.1:p.Glu150= NC_000011.10:61446019:G:A p.(Glu150=) NC_000011.10:61446019:G:A p.(Glu150=) NC_000011.10:61446019:G:A Identity +NM_017890.5:c.4356A>G NP_060360.3:p.Thr1452= NC_000008.11:99511159:A:G p.(Thr1452=) NC_000008.11:99511159:A:G p.(Thr1452=) NC_000008.11:99511159:A:G Identity +NM_001271933.2:c.2127A>G NP_001258862.1:p.Gln709= NC_000011.10:117391049:A:G p.(Gln709=) NC_000011.10:117391049:A:G p.(Gln709=) NC_000011.10:117391049:A:G Identity +NM_001008844.3:c.210C>T NP_001008844.1:p.Thr70= NC_000006.12:7555756:C:T p.(Thr70=) NC_000006.12:7555756:C:T p.(Thr70=) NC_000006.12:7555756:C:T Identity +NM_004525.3:c.432C>T NP_004516.2:p.Tyr144= NC_000002.12:169294705:G:A p.(Tyr144=) NC_000002.12:169294705:G:A p.(Tyr144=) NC_000002.12:169294705:G:A Identity +NM_001257965.2:c.619C>T NP_001244894.1:p.Leu207= NC_000001.11:197344453:C:T p.(Leu207=) NC_000001.11:197344453:C:T p.(Leu207=) NC_000001.11:197344453:C:T Identity +NM_007123.6:c.3111C>T NP_009054.6:p.Pro1037= NC_000001.11:216217432:G:A p.(Pro1037=) NC_000001.11:216217432:G:A p.(Pro1037=) NC_000001.11:216217432:G:A Identity +NM_000264.5:c.3489C>T NP_000255.2:p.Gly1163= NC_000009.12:95449900:G:A p.(Gly1163=) NC_000009.12:95449900:G:A p.(Gly1163=) NC_000009.12:95449900:G:A Identity +NM_004092.4:c.264C>T NP_004083.3:p.Thr88= NC_000010.11:133370581:G:A p.(Thr88=) NC_000010.11:133370581:G:A p.(Thr88=) NC_000010.11:133370581:G:A Identity +NM_014049.5:c.1182G>T NP_054768.2:p.Val394= NC_000003.12:128906152:G:T p.(Val394=) NC_000003.12:128906152:G:T p.(Val394=) NC_000003.12:128906152:G:T Identity +NM_005502.4:c.3567G>A NP_005493.2:p.Lys1189= NC_000009.12:104816313:C:T p.(Lys1189=) NC_000009.12:104816313:C:T p.(Lys1189=) NC_000009.12:104816313:C:T Identity +NM_000051.4:c.1908C>T NP_000042.3:p.His636= NC_000011.10:108253822:C:T p.(His636=) NC_000011.10:108253822:C:T p.(His636=) NC_000011.10:108253822:C:T Identity +NM_000540.3:c.10176G>A NP_000531.2:p.Leu3392= NC_000019.10:38519370:G:A p.(Leu3392=) NC_000019.10:38519370:G:A p.(Leu3392=) NC_000019.10:38519370:G:A Identity +NM_007254.4:c.1239G>A NP_009185.2:p.Leu413= NC_000019.10:49861830:C:T p.(Leu413=) NC_000019.10:49861830:C:T p.(Leu413=) NC_000019.10:49861830:C:T Identity +NM_014053.4:c.105C>T NP_054772.1:p.Ser35= NC_000001.11:212858556:C:T p.(Ser35=) NC_000001.11:212858556:C:T p.(Ser35=) NC_000001.11:212858556:C:T Identity +NM_004525.3:c.12549C>T NP_004516.2:p.Asp4183= NC_000002.12:169150938:G:A p.(Asp4183=) NC_000002.12:169150938:G:A p.(Asp4183=) NC_000002.12:169150938:G:A Identity +NM_004553.6:c.87G>C NP_004544.1:p.Gly29= NC_000005.10:1801503:G:C p.(Gly29=) NC_000005.10:1801503:G:C p.(Gly29=) NC_000005.10:1801503:G:C Identity +NM_001256896.2:c.522A>G NP_001243825.1:p.Pro174= NC_000004.12:3493437:A:G p.(Pro174=) NC_000004.12:3493437:A:G p.(Pro174=) NC_000004.12:3493437:A:G Identity +NM_001318731.2:c.1923C>T NP_001305660.1:p.Tyr641= NC_000019.10:10149947:G:A p.(Tyr641=) NC_000019.10:10149947:G:A p.(Tyr641=) NC_000019.10:10149947:G:A Identity +NM_020928.2:c.171C>T NP_065979.1:p.Cys57= NC_000005.10:61332442:C:T p.(Cys57=) NC_000005.10:61332442:C:T p.(Cys57=) NC_000005.10:61332442:C:T Identity +NM_181672.3:c.1500T>C NP_858058.1:p.Asn500= NC_000023.11:71557569:T:C p.(Asn500=) NC_000023.11:71557569:T:C p.(Asn500=) NC_000023.11:71557569:T:C Identity +NM_031935.3:c.2343A>G NP_114141.2:p.Ala781= NC_000001.11:185970464:A:G p.(Ala781=) NC_000001.11:185970464:A:G p.(Ala781=) NC_000001.11:185970464:A:G Identity +NM_001127207.2:c.498T>C NP_001120679.1:p.Pro166= NC_000002.12:216415201:T:C p.(Pro166=) NC_000002.12:216415201:T:C p.(Pro166=) NC_000002.12:216415201:T:C Identity +NM_001278511.2:c.1587G>A NP_001265440.1:p.Gln529= NC_000015.10:82666915:C:T p.(Gln529=) NC_000015.10:82666915:C:T p.(Gln529=) NC_000015.10:82666915:C:T Identity +NM_000284.4:c.699T>C NP_000275.1:p.Val233= NC_000023.11:19355443:T:C p.(Val233=) NC_000023.11:19355443:T:C p.(Val233=) NC_000023.11:19355443:T:C Identity +NM_001037343.2:c.1701G>T NP_001032420.1:p.Thr567= NC_000023.11:18604624:G:T p.(Thr567=) NC_000023.11:18604624:G:T p.(Thr567=) NC_000023.11:18604624:G:T Identity +NM_001195573.1:c.5406T>C NP_001182502.1:p.Asn1802= NC_000014.9:95091067:A:G p.(Asn1802=) NC_000014.9:95091067:A:G p.(Asn1802=) NC_000014.9:95091067:A:G Identity +NM_004423.4:c.120C>T NP_004414.3:p.Pro40= NC_000003.12:184155754:C:T p.(Pro40=) NC_000003.12:184155754:C:T p.(Pro40=) NC_000003.12:184155754:C:T Identity +NM_001324112.2:c.1008A>T NP_001311041.1:p.Gly336= NC_000008.11:64615074:T:A p.(Gly336=) NC_000008.11:64615074:T:A p.(Gly336=) NC_000008.11:64615074:T:A Identity +NM_001318491.2:c.435C>G NP_001305420.1:p.Ala145= NC_000013.11:20597016:C:G p.(Ala145=) NC_000013.11:20597016:C:G p.(Ala145=) NC_000013.11:20597016:C:G Identity +NM_001207000.1:c.141C>T NP_001193929.1:p.Pro47= NC_000004.12:82429549:G:A p.(Pro47=) NC_000004.12:82429549:G:A p.(Pro47=) NC_000004.12:82429549:G:A Identity +NM_001160210.2:c.1512C>T NP_001153682.1:p.Cys504= NC_000007.14:96131824:G:A p.(Cys504=) NC_000007.14:96131824:G:A p.(Cys504=) NC_000007.14:96131824:G:A Identity +NM_021175.4:c.72C>T NP_066998.1:p.Gly24= NC_000019.10:35282648:C:T p.(Gly24=) NC_000019.10:35282648:C:T p.(Gly24=) NC_000019.10:35282648:C:T Identity +NM_001172309.2:c.160A>C NP_001165780.1:p.Arg54= NC_000001.11:77918177:A:C p.(Arg54=) NC_000001.11:77918177:A:C p.(Arg54=) NC_000001.11:77918177:A:C Identity +NM_001282237.2:c.2097G>A NP_001269166.1:p.Ala699= NC_000014.9:99174735:C:T p.(Ala699=) NC_000014.9:99174735:C:T p.(Ala699=) NC_000014.9:99174735:C:T Identity +NM_000048.4:c.1077C>T NP_000039.2:p.Asn359= NC_000007.14:66092019:C:T p.(Asn359=) NC_000007.14:66092019:C:T p.(Asn359=) NC_000007.14:66092019:C:T Identity +NM_000629.3:c.16C>T NP_000620.2:p.Leu6= NC_000021.9:33325070:C:T p.(Leu6=) NC_000021.9:33325070:C:T p.(Leu6=) NC_000021.9:33325070:C:T Identity +NM_001166136.2:c.1977G>T NP_001159608.1:p.Leu659= NC_000004.12:5622820:C:A p.(Leu659=) NC_000004.12:5622820:C:A p.(Leu659=) NC_000004.12:5622820:C:A Identity +NM_020928.2:c.534C>T NP_065979.1:p.Ala178= NC_000005.10:61332805:C:T p.(Ala178=) NC_000005.10:61332805:C:T p.(Ala178=) NC_000005.10:61332805:C:T Identity +NM_001126131.2:c.1236G>T NP_001119603.1:p.Pro412= NC_000015.10:89328469:C:A p.(Pro412=) NC_000015.10:89328469:C:A p.(Pro412=) NC_000015.10:89328469:C:A Identity +NM_000445.5:c.7905G>A NP_000436.2:p.Ala2635= NC_000008.11:143921996:C:T p.(Ala2635=) NC_000008.11:143921996:C:T p.(Ala2635=) NC_000008.11:143921996:C:T Identity +NM_001128844.3:c.885C>T NP_001122316.1:p.Pro295= NC_000019.10:10987690:C:T p.(Pro295=) NC_000019.10:10987690:C:T p.(Pro295=) NC_000019.10:10987690:C:T Identity +NM_001352500.2:c.441A>G NP_001339429.1:p.Gly147= NC_000013.11:49559920:T:C p.(Gly147=) NC_000013.11:49559920:T:C p.(Gly147=) NC_000013.11:49559920:T:C Identity +NM_015662.3:c.780T>C NP_056477.1:p.Tyr260= NC_000002.12:27481050:A:G p.(Tyr260=) NC_000002.12:27481050:A:G p.(Tyr260=) NC_000002.12:27481050:A:G Identity +NM_001128227.3:c.228A>G NP_001121699.1:p.Val76= NC_000009.12:36249220:T:C p.(Val76=) NC_000009.12:36249220:T:C p.(Val76=) NC_000009.12:36249220:T:C Identity +NM_001012509.4:c.1382G>C NP_001012527.2:p.Ter461Ser NC_000005.10:33947148:C:G p.(Ter461SerextTer31) NC_000005.10:33947148:C:G p.(Ter461SerextTer31) NC_000005.10:33947148:C:G Analogous +NM_001291411.2:c.4119G>A NP_001278340.2:p.Val1373= NC_000021.9:33553349:G:A p.(Val1373=) NC_000021.9:33553349:G:A p.(Val1373=) NC_000021.9:33553349:G:A Identity +NM_005159.5:c.1119C>T NP_005150.1:p.His373= NC_000015.10:34790426:G:A p.(His373=) NC_000015.10:34790426:G:A p.(His373=) NC_000015.10:34790426:G:A Identity +NM_001289155.2:c.402C>T NP_001276084.1:p.His134= NC_000015.10:74892716:C:T p.(His134=) NC_000015.10:74892716:C:T p.(His134=) NC_000015.10:74892716:C:T Identity +NM_001783.4:c.24C>T NP_001774.1:p.Leu8= NC_000019.10:41877327:C:T p.(Leu8=) NC_000019.10:41877327:C:T p.(Leu8=) NC_000019.10:41877327:C:T Identity +NM_000878.5:c.918G>A NP_000869.1:p.Ser306= NC_000022.11:37128833:C:T p.(Ser306=) NC_000022.11:37128833:C:T p.(Ser306=) NC_000022.11:37128833:C:T Identity +NM_000434.4:c.129C>T NP_000425.1:p.Ser43= NC_000006.12:31862647:G:A p.(Ser43=) NC_000006.12:31862647:G:A p.(Ser43=) NC_000006.12:31862647:G:A Identity +NM_001134771.2:c.3189G>A NP_001128243.1:p.Glu1063= NC_000020.11:46056905:G:A p.(Glu1063=) NC_000020.11:46056905:G:A p.(Glu1063=) NC_000020.11:46056905:G:A Identity +NM_000068.4:c.4659G>A NP_000059.3:p.Gln1553= NC_000019.10:13255202:C:T p.(Gln1553=) NC_000019.10:13255202:C:T p.(Gln1553=) NC_000019.10:13255202:C:T Identity +NM_001376.5:c.13674C>T NP_001367.2:p.Phe4558= NC_000014.9:102049871:C:T p.(Phe4558=) NC_000014.9:102049871:C:T p.(Phe4558=) NC_000014.9:102049871:C:T Identity +NM_000018.4:c.1815C>T NP_000009.1:p.Thr605= NC_000017.11:7224871:C:T p.(Thr605=) NC_000017.11:7224871:C:T p.(Thr605=) NC_000017.11:7224871:C:T Identity +NM_001144996.2:c.432T>C NP_001138468.1:p.Tyr144= NC_000012.12:55701136:A:G p.(Tyr144=) NC_000012.12:55701136:A:G p.(Tyr144=) NC_000012.12:55701136:A:G Identity +NM_001814.6:c.609G>A NP_001805.4:p.Arg203= NC_000011.10:88309194:C:T p.(Arg203=) NC_000011.10:88309194:C:T p.(Arg203=) NC_000011.10:88309194:C:T Identity +NM_032119.4:c.3261C>T NP_115495.3:p.Pro1087= NC_000005.10:90647735:C:T p.(Pro1087=) NC_000005.10:90647735:C:T p.(Pro1087=) NC_000005.10:90647735:C:T Identity +NM_001111097.3:c.1299C>T NP_001104567.1:p.Thr433= NC_000008.11:56009932:C:T p.(Thr433=) NC_000008.11:56009932:C:T p.(Thr433=) NC_000008.11:56009932:C:T Identity +NM_001166133.2:c.1887C>T NP_001159605.1:p.Pro629= NC_000004.12:78317434:C:T p.(Pro629=) NC_000004.12:78317434:C:T p.(Pro629=) NC_000004.12:78317434:C:T Identity +NM_001004334.4:c.3387G>A NP_001004334.3:p.Ser1129= NC_000017.11:38330181:C:T p.(Ser1129=) NC_000017.11:38330181:C:T p.(Ser1129=) NC_000017.11:38330181:C:T Identity +NM_000154.2:c.699C>T NP_000145.1:p.Ser233= NC_000017.11:75762797:G:A p.(Ser233=) NC_000017.11:75762797:G:A p.(Ser233=) NC_000017.11:75762797:G:A Identity +NM_001031714.4:c.384C>T NP_001026884.3:p.Leu128= NC_000014.9:104701748:C:T p.(Leu128=) NC_000014.9:104701748:C:T p.(Leu128=) NC_000014.9:104701748:C:T Identity +NM_000360.4:c.894C>T NP_000351.2:p.Asp298= NC_000011.10:2166715:G:A p.(Asp298=) NC_000011.10:2166715:G:A p.(Asp298=) NC_000011.10:2166715:G:A Identity +NM_020693.4:c.5763C>T NP_065744.3:p.Pro1921= NC_000011.10:117428726:G:A p.(Pro1921=) NC_000011.10:117428726:G:A p.(Pro1921=) NC_000011.10:117428726:G:A Identity +NM_021939.4:c.651G>A NP_068758.3:p.Gly217= NC_000017.11:41818450:G:A p.(Gly217=) NC_000017.11:41818450:G:A p.(Gly217=) NC_000017.11:41818450:G:A Identity +NM_001371986.1:c.903C>G NP_001358915.1:p.Ser301= NC_000002.12:209793823:C:G p.(Ser301=) NC_000002.12:209793823:C:G p.(Ser301=) NC_000002.12:209793823:C:G Identity +NM_000170.3:c.1080G>C NP_000161.2:p.Val360= NC_000009.12:6602183:C:G p.(Val360=) NC_000009.12:6602183:C:G p.(Val360=) NC_000009.12:6602183:C:G Identity +NM_005373.3:c.750C>T NP_005364.1:p.Asn250= NC_000001.11:43340022:C:T p.(Asn250=) NC_000001.11:43340022:C:T p.(Asn250=) NC_000001.11:43340022:C:T Identity +NM_133459.4:c.273C>T NP_597716.1:p.Asp91= NC_000018.10:59469599:G:A p.(Asp91=) NC_000018.10:59469599:G:A p.(Asp91=) NC_000018.10:59469599:G:A Identity +NM_001160147.2:c.1137T>G NP_001153619.1:p.Val379= NC_000014.9:53093340:A:C p.(Val379=) NC_000014.9:53093340:A:C p.(Val379=) NC_000014.9:53093340:A:C Identity +NM_001127207.2:c.573G>A NP_001120679.1:p.Glu191= NC_000002.12:216415276:G:A p.(Glu191=) NC_000002.12:216415276:G:A p.(Glu191=) NC_000002.12:216415276:G:A Identity +NM_001372.4:c.10014C>T NP_001363.2:p.Ala3338= NC_000017.11:11869213:C:T p.(Ala3338=) NC_000017.11:11869213:C:T p.(Ala3338=) NC_000017.11:11869213:C:T Identity +NM_001130518.2:c.213C>T NP_001123990.1:p.Tyr71= NC_000008.11:19505621:G:A p.(Tyr71=) NC_000008.11:19505621:G:A p.(Tyr71=) NC_000008.11:19505621:G:A Identity +NM_032273.4:c.172T>C NP_115649.1:p.Leu58= NC_000011.10:85654147:T:C p.(Leu58=) NC_000011.10:85654147:T:C p.(Leu58=) NC_000011.10:85654147:T:C Identity +NM_003906.5:c.4401G>A NP_003897.2:p.Glu1467= NC_000021.9:46246775:C:T p.(Glu1467=) NC_000021.9:46246775:C:T p.(Glu1467=) NC_000021.9:46246775:C:T Identity +NM_001171930.2:c.1011G>T NP_001165401.1:p.Leu337= NC_000010.11:71617269:G:T p.(Leu337=) NC_000010.11:71617269:G:T p.(Leu337=) NC_000010.11:71617269:G:T Identity +NM_001406787.1:c.1161A>G NP_001393716.1:p.Gly387= NC_000010.11:43116639:A:G p.(Gly387=) NC_000010.11:43116639:A:G p.(Gly387=) NC_000010.11:43116639:A:G Identity +NM_001306090.2:c.2499C>T NP_001293019.1:p.Asn833= NC_000004.12:5804778:C:T p.(Asn833=) NC_000004.12:5804778:C:T p.(Asn833=) NC_000004.12:5804778:C:T Identity +NM_024408.4:c.6141G>A NP_077719.2:p.Arg2047= NC_000001.11:119916580:C:T p.(Arg2047=) NC_000001.11:119916580:C:T p.(Arg2047=) NC_000001.11:119916580:C:T Identity +NM_001290307.3:c.492G>A NP_001277236.1:p.Leu164= NC_000005.10:138812205:G:A p.(Leu164=) NC_000005.10:138812205:G:A p.(Leu164=) NC_000005.10:138812205:G:A Identity +NM_001184985.2:c.1086C>T NP_001171914.1:p.Gly362= NC_000012.12:827194:C:T p.(Gly362=) NC_000012.12:827194:C:T p.(Gly362=) NC_000012.12:827194:C:T Identity +NM_000174.5:c.195C>T NP_000165.1:p.Ser65= NC_000003.12:129061933:C:T p.(Ser65=) NC_000003.12:129061933:C:T p.(Ser65=) NC_000003.12:129061933:C:T Identity +NM_001171184.2:c.1710G>A NP_001164655.1:p.Lys570= NC_000023.11:101252682:G:A p.(Lys570=) NC_000023.11:101252682:G:A p.(Lys570=) NC_000023.11:101252682:G:A Identity +NM_021154.5:c.162C>T NP_066977.1:p.Asn54= NC_000009.12:78301993:C:T p.(Asn54=) NC_000009.12:78301993:C:T p.(Asn54=) NC_000009.12:78301993:C:T Identity +NM_001288607.2:c.798G>A NP_001275536.1:p.Thr266= NC_000001.11:150553788:G:A p.(Thr266=) NC_000001.11:150553788:G:A p.(Thr266=) NC_000001.11:150553788:G:A Identity +NM_001127214.4:c.1491C>G NP_001120686.1:p.Pro497= NC_000016.10:89145390:C:G p.(Pro497=) NC_000016.10:89145390:C:G p.(Pro497=) NC_000016.10:89145390:C:G Identity +NM_006231.4:c.6213G>A NP_006222.2:p.Gln2071= NC_000012.12:132632431:C:T p.(Gln2071=) NC_000012.12:132632431:C:T p.(Gln2071=) NC_000012.12:132632431:C:T Identity +NM_001008844.3:c.5217G>A NP_001008844.1:p.Gly1739= NC_000006.12:7584275:G:A p.(Gly1739=) NC_000006.12:7584275:G:A p.(Gly1739=) NC_000006.12:7584275:G:A Identity +NM_000787.4:c.1662C>T NP_000778.3:p.Ala554= NC_000009.12:133657168:C:T p.(Ala554=) NC_000009.12:133657168:C:T p.(Ala554=) NC_000009.12:133657168:C:T Identity +NM_021999.5:c.240A>T NP_068839.1:p.Ala80= NC_000013.11:48253929:A:T p.(Ala80=) NC_000013.11:48253929:A:T p.(Ala80=) NC_000013.11:48253929:A:T Identity +NM_001041.4:c.2458T>C NP_001032.2:p.Leu820= NC_000003.12:165036445:A:G p.(Leu820=) NC_000003.12:165036445:A:G p.(Leu820=) NC_000003.12:165036445:A:G Identity +NM_001198842.2:c.228A>G NP_001185771.1:p.Pro76= NC_000012.12:69588184:A:G p.(Pro76=) NC_000012.12:69588184:A:G p.(Pro76=) NC_000012.12:69588184:A:G Identity +NM_001004334.4:c.3345C>T NP_001004334.3:p.Asn1115= NC_000017.11:38330223:G:A p.(Asn1115=) NC_000017.11:38330223:G:A p.(Asn1115=) NC_000017.11:38330223:G:A Identity +NM_015425.6:c.48C>T NP_056240.2:p.Ser16= NC_000002.12:86105728:G:A p.(Ser16=) NC_000002.12:86105728:G:A p.(Ser16=) NC_000002.12:86105728:G:A Identity +NM_005654.6:c.811C>T NP_005645.1:p.Leu271= NC_000005.10:93588263:C:T p.(Leu271=) NC_000005.10:93588263:C:T p.(Leu271=) NC_000005.10:93588263:C:T Identity +NM_001310332.2:c.2631G>A NP_001297261.1:p.Thr877= NC_000014.9:24160325:G:A p.(Thr877=) NC_000014.9:24160325:G:A p.(Thr877=) NC_000014.9:24160325:G:A Identity +NM_001099922.3:c.2112C>T NP_001093392.1:p.Arg704= NC_000023.11:111727634:C:T p.(Arg704=) NC_000023.11:111727634:C:T p.(Arg704=) NC_000023.11:111727634:C:T Identity +NM_001256410.2:c.70C>T NP_001243339.1:p.Leu24= NC_000010.11:27509875:C:T p.(Leu24=) NC_000010.11:27509875:C:T p.(Leu24=) NC_000010.11:27509875:C:T Identity +NM_001286130.2:c.2418A>G NP_001273059.1:p.Ala806= NC_000016.10:57911808:T:C p.(Ala806=) NC_000016.10:57911808:T:C p.(Ala806=) NC_000016.10:57911808:T:C Identity +NM_002386.4:c.510G>A NP_002377.4:p.Val170= NC_000016.10:89919767:G:A p.(Val170=) NC_000016.10:89919767:G:A p.(Val170=) NC_000016.10:89919767:G:A Identity +NM_001128602.2:c.2043A>G NP_001122074.1:p.Pro681= NC_000015.10:38494492:T:C p.(Pro681=) NC_000015.10:38494492:T:C p.(Pro681=) NC_000015.10:38494492:T:C Identity +NM_001243564.2:c.706C>T NP_001230493.1:p.Leu236= NC_000001.11:26468936:C:T p.(Leu236=) NC_000001.11:26468936:C:T p.(Leu236=) NC_000001.11:26468936:C:T Identity +NM_000153.4:c.495T>C NP_000144.2:p.Tyr165= NC_000014.9:87984480:A:G p.(Tyr165=) NC_000014.9:87984480:A:G p.(Tyr165=) NC_000014.9:87984480:A:G Identity +NM_016580.4:c.3504G>A NP_057664.1:p.Thr1168= NC_000005.10:141945431:C:T p.(Thr1168=) NC_000005.10:141945431:C:T p.(Thr1168=) NC_000005.10:141945431:C:T Identity +NM_001080124.2:c.1059T>C NP_001073593.1:p.Gly353= NC_000002.12:201285116:T:C p.(Gly353=) NC_000002.12:201285116:T:C p.(Gly353=) NC_000002.12:201285116:T:C Identity +NM_001011.4:c.264T>C NP_001002.1:p.Ser88= NC_000002.12:3576602:T:C p.(Ser88=) NC_000002.12:3576602:T:C p.(Ser88=) NC_000002.12:3576602:T:C Identity +NM_001171930.2:c.1191C>T NP_001165401.1:p.His397= NC_000010.11:71645880:C:T p.(His397=) NC_000010.11:71645880:C:T p.(His397=) NC_000010.11:71645880:C:T Identity +NM_001099679.2:c.159C>T NP_001093149.1:p.Ala53= NC_000009.12:116697900:C:T p.(Ala53=) NC_000009.12:116697900:C:T p.(Ala53=) NC_000009.12:116697900:C:T Identity +NM_001318245.2:c.2397G>A NP_001305174.1:p.Ala799= NC_000022.11:25797972:G:A p.(Ala799=) NC_000022.11:25797972:G:A p.(Ala799=) NC_000022.11:25797972:G:A Identity +NM_000760.4:c.558C>T NP_000751.1:p.Cys186= NC_000001.11:36473549:G:A p.(Cys186=) NC_000001.11:36473549:G:A p.(Cys186=) NC_000001.11:36473549:G:A Identity +NM_001184751.2:c.498C>T NP_001171680.1:p.Ser166= NC_000011.10:46703112:C:T p.(Ser166=) NC_000011.10:46703112:C:T p.(Ser166=) NC_000011.10:46703112:C:T Identity +NM_031935.3:c.10941A>G NP_114141.2:p.Ala3647= NC_000001.11:186108548:A:G p.(Ala3647=) NC_000001.11:186108548:A:G p.(Ala3647=) NC_000001.11:186108548:A:G Identity +NM_001166103.2:c.492C>A NP_001159575.1:p.Ile164= NC_000019.10:38291909:C:A p.(Ile164=) NC_000019.10:38291909:C:A p.(Ile164=) NC_000019.10:38291909:C:A Identity +NM_012469.4:c.1461C>T NP_036601.2:p.Ile487= NC_000020.11:64011439:C:T p.(Ile487=) NC_000020.11:64011439:C:T p.(Ile487=) NC_000020.11:64011439:C:T Identity +NM_004525.3:c.8613C>T NP_004516.2:p.Cys2871= NC_000002.12:169196995:G:A p.(Cys2871=) NC_000002.12:169196995:G:A p.(Cys2871=) NC_000002.12:169196995:G:A Identity +NM_001375644.1:c.885G>A NP_001362573.1:p.Leu295= NC_000004.12:145654058:G:A p.(Leu295=) NC_000004.12:145654058:G:A p.(Leu295=) NC_000004.12:145654058:G:A Identity +NM_000400.4:c.1083G>A NP_000391.1:p.Leu361= NC_000019.10:45363777:C:T p.(Leu361=) NC_000019.10:45363777:C:T p.(Leu361=) NC_000019.10:45363777:C:T Identity +NM_001099679.2:c.555C>G NP_001093149.1:p.Leu185= NC_000009.12:116698296:C:G p.(Leu185=) NC_000009.12:116698296:C:G p.(Leu185=) NC_000009.12:116698296:C:G Identity +NM_005876.5:c.1428G>T NP_005867.3:p.Ser476= NC_000002.12:219448585:G:T p.(Ser476=) NC_000002.12:219448585:G:T p.(Ser476=) NC_000002.12:219448585:G:T Identity +NM_001317090.2:c.723C>T NP_001304019.1:p.Leu241= NC_000011.10:64298170:C:T p.(Leu241=) NC_000011.10:64298170:C:T p.(Leu241=) NC_000011.10:64298170:C:T Identity +NM_001271427.2:c.2520G>A NP_001258356.1:p.Pro840= NC_000001.11:19222687:C:T p.(Pro840=) NC_000001.11:19222687:C:T p.(Pro840=) NC_000001.11:19222687:C:T Identity +NM_004281.4:c.54C>T NP_004272.2:p.Asp18= NC_000010.11:119651728:C:T p.(Asp18=) NC_000010.11:119651728:C:T p.(Asp18=) NC_000010.11:119651728:C:T Identity +NM_001353229.2:c.261A>G NP_001340158.1:p.Ser87= NC_000017.11:17226310:T:C p.(Ser87=) NC_000017.11:17226310:T:C p.(Ser87=) NC_000017.11:17226310:T:C Identity +NM_001013838.3:c.2541G>A NP_001013860.1:p.Pro847= NC_000016.10:67651797:G:A p.(Pro847=) NC_000016.10:67651797:G:A p.(Pro847=) NC_000016.10:67651797:G:A Identity +NM_030582.4:c.336C>T NP_085059.2:p.Ala112= NC_000021.9:45455865:C:T p.(Ala112=) NC_000021.9:45455865:C:T p.(Ala112=) NC_000021.9:45455865:C:T Identity +NM_000028.3:c.1674A>G NP_000019.2:p.Thr558= NC_000001.11:99879984:A:G p.(Thr558=) NC_000001.11:99879984:A:G p.(Thr558=) NC_000001.11:99879984:A:G Identity +NM_001271769.2:c.366C>G NP_001258698.1:p.Ala122= NC_000005.10:78227394:G:C p.(Ala122=) NC_000005.10:78227394:G:C p.(Ala122=) NC_000005.10:78227394:G:C Identity +NM_014974.3:c.51G>A NP_055789.1:p.Ala17= NC_000010.11:689527:C:T p.(Ala17=) NC_000010.11:689527:C:T p.(Ala17=) NC_000010.11:689527:C:T Identity +NM_020778.5:c.276C>T NP_065829.4:p.Ser92= NC_000015.10:84827576:C:T p.(Ser92=) NC_000015.10:84827576:C:T p.(Ser92=) NC_000015.10:84827576:C:T Identity +NM_001203247.2:c.2088T>C NP_001190176.1:p.Tyr696= NC_000007.14:148809316:A:G p.(Tyr696=) NC_000007.14:148809316:A:G p.(Tyr696=) NC_000007.14:148809316:A:G Identity +NM_000043.6:c.909T>C NP_000034.1:p.Leu303= NC_000010.11:89014350:T:C p.(Leu303=) NC_000010.11:89014350:T:C p.(Leu303=) NC_000010.11:89014350:T:C Identity +NM_032801.5:c.801C>T NP_116190.3:p.Tyr267= NC_000011.10:134148634:C:T p.(Tyr267=) NC_000011.10:134148634:C:T p.(Tyr267=) NC_000011.10:134148634:C:T Identity +NM_138694.4:c.1794C>T NP_619639.3:p.Pro598= NC_000006.12:52055628:G:A p.(Pro598=) NC_000006.12:52055628:G:A p.(Pro598=) NC_000006.12:52055628:G:A Identity +NM_001369512.1:c.960C>T NP_001356441.1:p.Ala320= NC_000017.11:42333761:G:A p.(Ala320=) NC_000017.11:42333761:G:A p.(Ala320=) NC_000017.11:42333761:G:A Identity +NM_001317034.1:c.219T>C NP_001303963.1:p.Asp73= NC_000020.11:50955227:A:G p.(Asp73=) NC_000020.11:50955227:A:G p.(Asp73=) NC_000020.11:50955227:A:G Identity +NM_000828.5:c.786T>C NP_000819.4:p.His262= NC_000023.11:123395002:T:C p.(His262=) NC_000023.11:123395002:T:C p.(His262=) NC_000023.11:123395002:T:C Identity +NM_000465.4:c.1270A>C NP_000456.2:p.Arg424= NC_000002.12:214780603:T:G p.(Arg424=) NC_000002.12:214780603:T:G p.(Arg424=) NC_000002.12:214780603:T:G Identity +NM_153240.5:c.2157C>G NP_694972.3:p.Gly719= NC_000003.12:132696744:G:C p.(Gly719=) NC_000003.12:132696744:G:C p.(Gly719=) NC_000003.12:132696744:G:C Identity +NM_001278055.2:c.11542T>C NP_001264984.1:p.Leu3848= NC_000013.11:23331892:A:G p.(Leu3848=) NC_000013.11:23331892:A:G p.(Leu3848=) NC_000013.11:23331892:A:G Identity +NM_000521.4:c.660T>G NP_000512.2:p.Leu220= NC_000005.10:74697096:T:G p.(Leu220=) NC_000005.10:74697096:T:G p.(Leu220=) NC_000005.10:74697096:T:G Identity +NM_001184900.3:c.501T>C NP_001171829.1:p.Asn167= NC_000019.10:48231700:A:G p.(Asn167=) NC_000019.10:48231700:A:G p.(Asn167=) NC_000019.10:48231700:A:G Identity +NM_000232.5:c.96C>A NP_000223.1:p.Val32= NC_000004.12:52033577:G:T p.(Val32=) NC_000004.12:52033577:G:T p.(Val32=) NC_000004.12:52033577:G:T Identity +NM_014014.5:c.5799T>C NP_054733.2:p.Asn1933= NC_000002.12:96277670:A:G p.(Asn1933=) NC_000002.12:96277670:A:G p.(Asn1933=) NC_000002.12:96277670:A:G Identity +NM_001165966.2:c.1737C>T NP_001159438.1:p.Asn579= NC_000017.11:6468269:G:A p.(Asn579=) NC_000017.11:6468269:G:A p.(Asn579=) NC_000017.11:6468269:G:A Identity +NM_006445.4:c.6795C>T NP_006436.3:p.Asp2265= NC_000017.11:1651165:G:A p.(Asp2265=) NC_000017.11:1651165:G:A p.(Asp2265=) NC_000017.11:1651165:G:A Identity +NM_001317090.2:c.759C>T NP_001304019.1:p.Ile253= NC_000011.10:64298206:C:T p.(Ile253=) NC_000011.10:64298206:C:T p.(Ile253=) NC_000011.10:64298206:C:T Identity +NM_014510.3:c.14532G>A NP_055325.2:p.Gln4844= NC_000007.14:82824299:C:T p.(Gln4844=) NC_000007.14:82824299:C:T p.(Gln4844=) NC_000007.14:82824299:C:T Identity +NM_000161.3:c.691T>C NP_000152.1:p.Leu231= NC_000014.9:54844078:A:G p.(Leu231=) NC_000014.9:54844078:A:G p.(Leu231=) NC_000014.9:54844078:A:G Identity +NM_014918.5:c.645T>A NP_055733.2:p.Gly215= NC_000015.10:101235252:A:T p.(Gly215=) NC_000015.10:101235252:A:T p.(Gly215=) NC_000015.10:101235252:A:T Identity +NM_000350.3:c.2067G>A NP_000341.2:p.Gln689= NC_000001.11:94060629:C:T p.(Gln689=) NC_000001.11:94060629:C:T p.(Gln689=) NC_000001.11:94060629:C:T Identity +NM_001025295.3:c.270G>A NP_001020466.1:p.Ala90= NC_000011.10:298629:C:T p.(Ala90=) NC_000011.10:298629:C:T p.(Ala90=) NC_000011.10:298629:C:T Identity +NM_198525.3:c.2796G>T NP_940927.2:p.Leu932= NC_000015.10:89632918:C:A p.(Leu932=) NC_000015.10:89632918:C:A p.(Leu932=) NC_000015.10:89632918:C:A Identity +NM_001163940.2:c.24G>A NP_001157412.1:p.Gln8= NC_000014.9:50944379:C:T p.(Gln8=) NC_000014.9:50944379:C:T p.(Gln8=) NC_000014.9:50944379:C:T Identity +NM_000158.4:c.1491C>G NP_000149.4:p.Ala497= NC_000003.12:81578051:G:C p.(Ala497=) NC_000003.12:81578051:G:C p.(Ala497=) NC_000003.12:81578051:G:C Identity +NM_033131.4:c.102C>A NP_149122.1:p.Ser34= NC_000001.11:228022696:C:A p.(Ser34=) NC_000001.11:228022696:C:A p.(Ser34=) NC_000001.11:228022696:C:A Identity +NM_000263.4:c.1371C>T NP_000254.2:p.Leu457= NC_000017.11:42543376:C:T p.(Leu457=) NC_000017.11:42543376:C:T p.(Leu457=) NC_000017.11:42543376:C:T Identity +NM_006950.3:c.1884C>T NP_008881.2:p.Pro628= NC_000023.11:47574099:G:A p.(Pro628=) NC_000023.11:47574099:G:A p.(Pro628=) NC_000023.11:47574099:G:A Identity +NM_001257137.3:c.1059A>G NP_001244066.1:p.Thr353= NC_000020.11:34442273:A:G p.(Thr353=) NC_000020.11:34442273:A:G p.(Thr353=) NC_000020.11:34442273:A:G Identity +NM_022166.4:c.1225C>T NP_071449.1:p.Leu409= NC_000016.10:17198275:G:A p.(Leu409=) NC_000016.10:17198275:G:A p.(Leu409=) NC_000016.10:17198275:G:A Identity +NM_005914.4:c.2142T>C NP_005905.2:p.Tyr714= NC_000008.11:47974738:T:C p.(Tyr714=) NC_000008.11:47974738:T:C p.(Tyr714=) NC_000008.11:47974738:T:C Identity +NM_006493.4:c.729T>C NP_006484.2:p.Ala243= NC_000013.11:77000620:T:C p.(Ala243=) NC_000013.11:77000620:T:C p.(Ala243=) NC_000013.11:77000620:T:C Identity +NM_001375291.1:c.2328C>T NP_001362220.1:p.Pro776= NC_000009.12:95972078:C:T p.(Pro776=) NC_000009.12:95972078:C:T p.(Pro776=) NC_000009.12:95972078:C:T Identity +NM_001318520.2:c.2724T>C NP_001305449.1:p.Cys908= NC_000018.10:70048051:A:G p.(Cys908=) NC_000018.10:70048051:A:G p.(Cys908=) NC_000018.10:70048051:A:G Identity +NM_000057.4:c.1419C>T NP_000048.1:p.Thr473= NC_000015.10:90760791:C:T p.(Thr473=) NC_000015.10:90760791:C:T p.(Thr473=) NC_000015.10:90760791:C:T Identity +NM_000203.5:c.1218G>T NP_000194.2:p.Ser406= NC_000004.12:1002759:G:T p.(Ser406=) NC_000004.12:1002759:G:T p.(Ser406=) NC_000004.12:1002759:G:T Identity +NM_001378969.1:c.1492T>C NP_001365898.1:p.Leu498= NC_000001.11:111778461:A:G p.(Leu498=) NC_000001.11:111778461:A:G p.(Leu498=) NC_000001.11:111778461:A:G Identity +NM_001352773.2:c.1326C>T NP_001339702.1:p.Ile442= NC_000017.11:41763153:G:A p.(Ile442=) NC_000017.11:41763153:G:A p.(Ile442=) NC_000017.11:41763153:G:A Identity +NM_001351693.2:c.3255A>G NP_001338622.1:p.Thr1085= NC_000019.10:39424564:A:G p.(Thr1085=) NC_000019.10:39424564:A:G p.(Thr1085=) NC_000019.10:39424564:A:G Identity +NM_001300895.3:c.387G>A NP_001287824.1:p.Ala129= NC_000011.10:67458420:G:A p.(Ala129=) NC_000011.10:67458420:G:A p.(Ala129=) NC_000011.10:67458420:G:A Identity +NM_001127207.2:c.1677T>A NP_001120679.1:p.Thr559= NC_000002.12:216438451:T:A p.(Thr559=) NC_000002.12:216438451:T:A p.(Thr559=) NC_000002.12:216438451:T:A Identity +NM_000550.3:c.177A>G NP_000541.1:p.Ser59= NC_000009.12:12694172:A:G p.(Ser59=) NC_000009.12:12694172:A:G p.(Ser59=) NC_000009.12:12694172:A:G Identity +NM_001388492.1:c.5521C>T NP_001375421.1:p.Leu1841= NC_000004.12:3199883:C:T p.(Leu1841=) NC_000004.12:3199883:C:T p.(Leu1841=) NC_000004.12:3199883:C:T Identity +NM_001164674.2:c.804C>T NP_001158146.1:p.Asn268= NC_000003.12:4410939:G:A p.(Asn268=) NC_000003.12:4410939:G:A p.(Asn268=) NC_000003.12:4410939:G:A Identity +NM_000445.5:c.9639A>T NP_000436.2:p.Thr3213= NC_000008.11:143920262:T:A p.(Thr3213=) NC_000008.11:143920262:T:A p.(Thr3213=) NC_000008.11:143920262:T:A Identity +NM_001958.5:c.957C>T NP_001949.1:p.Asp319= NC_000020.11:63490550:G:A p.(Asp319=) NC_000020.11:63490550:G:A p.(Asp319=) NC_000020.11:63490550:G:A Identity +NM_001135597.2:c.5580A>T NP_001129069.1:p.Ser1860= NC_000002.12:55291743:T:A p.(Ser1860=) NC_000002.12:55291743:T:A p.(Ser1860=) NC_000002.12:55291743:T:A Identity +NM_000053.4:c.3129C>T NP_000044.2:p.Leu1043= NC_000013.11:51944222:G:A p.(Leu1043=) NC_000013.11:51944222:G:A p.(Leu1043=) NC_000013.11:51944222:G:A Identity +NM_199355.4:c.73C>T NP_955387.1:p.Leu25= NC_000016.10:77434622:G:A p.(Leu25=) NC_000016.10:77434622:G:A p.(Leu25=) NC_000016.10:77434622:G:A Identity +NM_014244.5:c.930C>T NP_055059.2:p.His310= NC_000005.10:179181116:G:A p.(His310=) NC_000005.10:179181116:G:A p.(His310=) NC_000005.10:179181116:G:A Identity +NM_003384.3:c.39C>T NP_003375.1:p.Ser13= NC_000014.9:96833509:C:T p.(Ser13=) NC_000014.9:96833509:C:T p.(Ser13=) NC_000014.9:96833509:C:T Identity +NM_001318194.2:c.138C>A NP_001305123.1:p.Ile46= NC_000016.10:2044686:G:T p.(Ile46=) NC_000016.10:2044686:G:T p.(Ile46=) NC_000016.10:2044686:G:T Identity +NM_004329.3:c.588T>C NP_004320.2:p.Asp196= NC_000010.11:86912296:T:C p.(Asp196=) NC_000010.11:86912296:T:C p.(Asp196=) NC_000010.11:86912296:T:C Identity +NM_000033.4:c.1719G>A NP_000024.2:p.Glu573= NC_000023.11:153740657:G:A p.(Glu573=) NC_000023.11:153740657:G:A p.(Glu573=) NC_000023.11:153740657:G:A Identity +NM_000787.4:c.462C>T NP_000778.3:p.Cys154= NC_000009.12:133639967:C:T p.(Cys154=) NC_000009.12:133639967:C:T p.(Cys154=) NC_000009.12:133639967:C:T Identity +NM_001135659.3:c.3765T>G NP_001129131.1:p.Val1255= NC_000002.12:50091395:A:C p.(Val1255=) NC_000002.12:50091395:A:C p.(Val1255=) NC_000002.12:50091395:A:C Identity +NM_022047.4:c.561C>T NP_071330.3:p.Leu187= NC_000006.12:35312438:C:T p.(Leu187=) NC_000006.12:35312438:C:T p.(Leu187=) NC_000006.12:35312438:C:T Identity +NM_014003.4:c.3630A>G NP_054722.2:p.Lys1210= NC_000016.10:72112442:A:G p.(Lys1210=) NC_000016.10:72112442:A:G p.(Lys1210=) NC_000016.10:72112442:A:G Identity +NM_002334.4:c.5370G>A NP_002325.2:p.Leu1790= NC_000011.10:46862620:C:T p.(Leu1790=) NC_000011.10:46862620:C:T p.(Leu1790=) NC_000011.10:46862620:C:T Identity +NM_020461.4:c.4380C>T NP_065194.3:p.Asp1460= NC_000022.11:50219391:G:A p.(Asp1460=) NC_000022.11:50219391:G:A p.(Asp1460=) NC_000022.11:50219391:G:A Identity +NM_001024858.4:c.102C>T NP_001020029.1:p.Asn34= NC_000014.9:64822992:G:A p.(Asn34=) NC_000014.9:64822992:G:A p.(Asn34=) NC_000014.9:64822992:G:A Identity +NM_001321099.2:c.1551G>A NP_001308028.1:p.Thr517= NC_000002.12:196847079:C:T p.(Thr517=) NC_000002.12:196847079:C:T p.(Thr517=) NC_000002.12:196847079:C:T Identity +NM_001288653.2:c.2349T>C NP_001275582.1:p.Asp783= NC_000017.11:59673690:T:C p.(Asp783=) NC_000017.11:59673690:T:C p.(Asp783=) NC_000017.11:59673690:T:C Identity +NM_000433.4:c.1515T>C NP_000424.2:p.Ile505= NC_000001.11:183556183:A:G p.(Ile505=) NC_000001.11:183556183:A:G p.(Ile505=) NC_000001.11:183556183:A:G Identity +NM_001166111.2:c.3630G>T NP_001159583.1:p.Arg1210= NC_000019.10:7559051:G:T p.(Arg1210=) NC_000019.10:7559051:G:T p.(Arg1210=) NC_000019.10:7559051:G:T Identity +NM_001943.5:c.111G>C NP_001934.2:p.Leu37= NC_000018.10:31519831:G:C p.(Leu37=) NC_000018.10:31519831:G:C p.(Leu37=) NC_000018.10:31519831:G:C Identity +NM_001558.4:c.684G>A NP_001549.2:p.Arg228= NC_000011.10:117994144:G:A p.(Arg228=) NC_000011.10:117994144:G:A p.(Arg228=) NC_000011.10:117994144:G:A Identity +NM_001007097.3:c.699T>A NP_001007098.1:p.Gly233= NC_000009.12:84723687:T:A p.(Gly233=) NC_000009.12:84723687:T:A p.(Gly233=) NC_000009.12:84723687:T:A Identity +NM_032520.5:c.220C>T NP_115909.1:p.Leu74= NC_000016.10:1361783:C:T p.(Leu74=) NC_000016.10:1361783:C:T p.(Leu74=) NC_000016.10:1361783:C:T Identity +NM_001348250.2:c.1533G>A NP_001335179.1:p.Val511= NC_000003.12:11034535:G:A p.(Val511=) NC_000003.12:11034535:G:A p.(Val511=) NC_000003.12:11034535:G:A Identity +NM_001271440.2:c.747G>A NP_001258369.1:p.Glu249= NC_000021.9:44330218:C:T p.(Glu249=) NC_000021.9:44330218:C:T p.(Glu249=) NC_000021.9:44330218:C:T Identity +NM_001171653.2:c.543T>C NP_001165124.1:p.Asp181= NC_000002.12:144404107:A:G p.(Asp181=) NC_000002.12:144404107:A:G p.(Asp181=) NC_000002.12:144404107:A:G Identity +NM_001145853.1:c.33C>A NP_001139325.1:p.Ser11= NC_000004.12:6277487:C:A p.(Ser11=) NC_000004.12:6277487:C:A p.(Ser11=) NC_000004.12:6277487:C:A Identity +NM_020184.4:c.762C>T NP_064569.3:p.Asn254= NC_000002.12:96761760:C:T p.(Asn254=) NC_000002.12:96761760:C:T p.(Asn254=) NC_000002.12:96761760:C:T Identity +NM_001171653.2:c.1743G>A NP_001165124.1:p.Lys581= NC_000002.12:144399371:C:T p.(Lys581=) NC_000002.12:144399371:C:T p.(Lys581=) NC_000002.12:144399371:C:T Identity +NM_001113178.3:c.1068G>A NP_001106649.1:p.Val356= NC_000016.10:69655670:G:A p.(Val356=) NC_000016.10:69655670:G:A p.(Val356=) NC_000016.10:69655670:G:A Identity +NM_000053.4:c.1959T>C NP_000044.2:p.Ser653= NC_000013.11:51960309:A:G p.(Ser653=) NC_000013.11:51960309:A:G p.(Ser653=) NC_000013.11:51960309:A:G Identity +NM_001363626.2:c.117C>T NP_001350555.1:p.Arg39= NC_000005.10:174724775:C:T p.(Arg39=) NC_000005.10:174724775:C:T p.(Arg39=) NC_000005.10:174724775:C:T Identity +NM_003630.3:c.951T>C NP_003621.1:p.Ser317= NC_000006.12:143485160:T:C p.(Ser317=) NC_000006.12:143485160:T:C p.(Ser317=) NC_000006.12:143485160:T:C Identity +NM_001146009.1:c.2145G>A NP_001139481.1:p.Arg715= NC_000008.11:69673105:C:T p.(Arg715=) NC_000008.11:69673105:C:T p.(Arg715=) NC_000008.11:69673105:C:T Identity +NM_173689.7:c.1299G>A NP_775960.4:p.Pro433= NC_000009.12:123370351:G:A p.(Pro433=) NC_000009.12:123370351:G:A p.(Pro433=) NC_000009.12:123370351:G:A Identity +NM_016247.4:c.1923A>G NP_057331.2:p.Pro641= NC_000003.12:101244407:T:C p.(Pro641=) NC_000003.12:101244407:T:C p.(Pro641=) NC_000003.12:101244407:T:C Identity +NM_001303496.3:c.1737T>C NP_001290425.1:p.Cys579= NC_000007.14:93134234:A:G p.(Cys579=) NC_000007.14:93134234:A:G p.(Cys579=) NC_000007.14:93134234:A:G Identity +NM_001142929.2:c.303C>A NP_001136401.2:p.Ile101= NC_000010.11:49620571:C:A p.(Ile101=) NC_000010.11:49620571:C:A p.(Ile101=) NC_000010.11:49620571:C:A Identity +NM_000051.4:c.4671C>A NP_000042.3:p.Ile1557= NC_000011.10:108293371:C:A p.(Ile1557=) NC_000011.10:108293371:C:A p.(Ile1557=) NC_000011.10:108293371:C:A Identity +NM_001193640.2:c.3618A>G NP_001180569.1:p.Lys1206= NC_000001.11:197442240:A:G p.(Lys1206=) NC_000001.11:197442240:A:G p.(Lys1206=) NC_000001.11:197442240:A:G Identity +NM_001378454.1:c.8229T>A NP_001365383.1:p.Thr2743= NC_000002.12:73490187:T:A p.(Thr2743=) NC_000002.12:73490187:T:A p.(Thr2743=) NC_000002.12:73490187:T:A Identity +NM_001042410.2:c.1503T>C NP_001035869.1:p.Ala501= NC_000002.12:219235123:T:C p.(Ala501=) NC_000002.12:219235123:T:C p.(Ala501=) NC_000002.12:219235123:T:C Identity +NM_000179.3:c.2619G>C NP_000170.1:p.Gly873= NC_000002.12:47800601:G:C p.(Gly873=) NC_000002.12:47800601:G:C p.(Gly873=) NC_000002.12:47800601:G:C Identity +NM_001081640.2:c.5400C>T NP_001075109.1:p.Ser1800= NC_000008.11:47864726:G:A p.(Ser1800=) NC_000008.11:47864726:G:A p.(Ser1800=) NC_000008.11:47864726:G:A Identity +NM_001193304.3:c.294C>T NP_001180233.1:p.Ala98= NC_000002.12:96254947:G:A p.(Ala98=) NC_000002.12:96254947:G:A p.(Ala98=) NC_000002.12:96254947:G:A Identity +NM_033071.5:c.5895G>A NP_149062.2:p.Glu1965= NC_000006.12:152416562:C:T p.(Glu1965=) NC_000006.12:152416562:C:T p.(Glu1965=) NC_000006.12:152416562:C:T Identity +NM_001243925.2:c.432A>T NP_001230854.1:p.Ala144= NC_000003.12:50642259:A:T p.(Ala144=) NC_000003.12:50642259:A:T p.(Ala144=) NC_000003.12:50642259:A:T Identity +NM_001256850.1:c.33849C>A NP_001243779.1:p.Arg11283= NC_000002.12:178672226:G:T p.(Arg11283=) NC_000002.12:178672226:G:T p.(Arg11283=) NC_000002.12:178672226:G:T Identity +NM_001256850.1:c.5199G>A NP_001243779.1:p.Thr1733= NC_000002.12:178776664:C:T p.(Thr1733=) NC_000002.12:178776664:C:T p.(Thr1733=) NC_000002.12:178776664:C:T Identity +NM_005546.4:c.525G>A NP_005537.3:p.Val175= NC_000005.10:157222891:G:A p.(Val175=) NC_000005.10:157222891:G:A p.(Val175=) NC_000005.10:157222891:G:A Identity +NM_007123.6:c.1206G>A NP_009054.6:p.Lys402= NC_000001.11:216324289:C:T p.(Lys402=) NC_000001.11:216324289:C:T p.(Lys402=) NC_000001.11:216324289:C:T Identity +NM_020461.4:c.1857C>T NP_065194.3:p.Val619= NC_000022.11:50225919:G:A p.(Val619=) NC_000022.11:50225919:G:A p.(Val619=) NC_000022.11:50225919:G:A Identity +NM_001318219.1:c.3954G>A NP_001305148.1:p.Gln1318= NC_000020.11:35504218:G:A p.(Gln1318=) NC_000020.11:35504218:G:A p.(Gln1318=) NC_000020.11:35504218:G:A Identity +NM_002439.5:c.606G>A NP_002430.3:p.Gln202= NC_000005.10:80670122:G:A p.(Gln202=) NC_000005.10:80670122:G:A p.(Gln202=) NC_000005.10:80670122:G:A Identity +NM_001142800.2:c.7911C>T NP_001136272.1:p.Thr2637= NC_000006.12:63762620:G:A p.(Thr2637=) NC_000006.12:63762620:G:A p.(Thr2637=) NC_000006.12:63762620:G:A Identity +NM_001367624.2:c.7635C>T NP_001354553.1:p.Asp2545= NC_000016.10:88435104:C:T p.(Asp2545=) NC_000016.10:88435104:C:T p.(Asp2545=) NC_000016.10:88435104:C:T Identity +NM_000091.5:c.4188T>C NP_000082.2:p.Asp1396= NC_000002.12:227305018:T:C p.(Asp1396=) NC_000002.12:227305018:T:C p.(Asp1396=) NC_000002.12:227305018:T:C Identity +NM_002890.3:c.519G>A NP_002881.1:p.Leu173= NC_000005.10:87268969:G:A p.(Leu173=) NC_000005.10:87268969:G:A p.(Leu173=) NC_000005.10:87268969:G:A Identity +NM_000063.6:c.483G>A NP_000054.2:p.Val161= NC_000006.12:31933649:G:A p.(Val161=) NC_000006.12:31933649:G:A p.(Val161=) NC_000006.12:31933649:G:A Identity +NM_001035511.3:c.54T>C NP_001030588.1:p.Phe18= NC_000001.11:161323646:T:C p.(Phe18=) NC_000001.11:161323646:T:C p.(Phe18=) NC_000001.11:161323646:T:C Identity +NM_006445.4:c.3888G>A NP_006436.3:p.Gln1296= NC_000017.11:1662039:C:T p.(Gln1296=) NC_000017.11:1662039:C:T p.(Gln1296=) NC_000017.11:1662039:C:T Identity +NM_001330465.2:c.462G>A NP_001317394.1:p.Pro154= NC_000008.11:11555386:G:A p.(Pro154=) NC_000008.11:11555386:G:A p.(Pro154=) NC_000008.11:11555386:G:A Identity +NM_000048.4:c.741G>C NP_000039.2:p.Ser247= NC_000007.14:66088828:G:C p.(Ser247=) NC_000007.14:66088828:G:C p.(Ser247=) NC_000007.14:66088828:G:C Identity +NM_001172309.2:c.1602A>G NP_001165780.1:p.Pro534= NC_000001.11:77942594:A:G p.(Pro534=) NC_000001.11:77942594:A:G p.(Pro534=) NC_000001.11:77942594:A:G Identity +NM_000271.5:c.2739C>A NP_000262.2:p.Gly913= NC_000018.10:23539866:G:T p.(Gly913=) NC_000018.10:23539866:G:T p.(Gly913=) NC_000018.10:23539866:G:T Identity +NM_001142571.2:c.604C>T NP_001136043.1:p.Leu202= NC_000017.11:35106417:G:A p.(Leu202=) NC_000017.11:35106417:G:A p.(Leu202=) NC_000017.11:35106417:G:A Identity +NM_001039675.2:c.2676G>A NP_001034764.1:p.Glu892= NC_000015.10:90953601:G:A p.(Glu892=) NC_000015.10:90953601:G:A p.(Glu892=) NC_000015.10:90953601:G:A Identity +NM_000124.4:c.2886C>T NP_000115.1:p.Leu962= NC_000010.11:49472413:G:A p.(Leu962=) NC_000010.11:49472413:G:A p.(Leu962=) NC_000010.11:49472413:G:A Identity +NM_000238.4:c.858C>T NP_000229.1:p.Asp286= NC_000007.14:150958116:G:A p.(Asp286=) NC_000007.14:150958116:G:A p.(Asp286=) NC_000007.14:150958116:G:A Identity +NM_001252043.2:c.399C>T NP_001238972.1:p.His133= NC_000016.10:29979019:C:T p.(His133=) NC_000016.10:29979019:C:T p.(His133=) NC_000016.10:29979019:C:T Identity +NM_001098268.2:c.1509C>G NP_001091738.1:p.Leu503= NC_000013.11:108209759:G:C p.(Leu503=) NC_000013.11:108209759:G:C p.(Leu503=) NC_000013.11:108209759:G:C Identity +NM_000902.5:c.1314T>C NP_000893.2:p.His438= NC_000003.12:155143567:T:C p.(His438=) NC_000003.12:155143567:T:C p.(His438=) NC_000003.12:155143567:T:C Identity +NM_001909.5:c.375C>T NP_001900.1:p.Ser125= NC_000011.10:1759064:G:A p.(Ser125=) NC_000011.10:1759064:G:A p.(Ser125=) NC_000011.10:1759064:G:A Identity +NM_001164507.2:c.450A>G NP_001157979.2:p.Val150= NC_000002.12:151724913:T:C p.(Val150=) NC_000002.12:151724913:T:C p.(Val150=) NC_000002.12:151724913:T:C Identity +NM_004656.4:c.2142G>A NP_004647.1:p.Lys714= NC_000003.12:52402335:C:T p.(Lys714=) NC_000003.12:52402335:C:T p.(Lys714=) NC_000003.12:52402335:C:T Identity +NM_170606.3:c.11334A>G NP_733751.2:p.Lys3778= NC_000007.14:152162242:T:C p.(Lys3778=) NC_000007.14:152162242:T:C p.(Lys3778=) NC_000007.14:152162242:T:C Identity +NM_002775.5:c.1413C>T NP_002766.1:p.Ile471= NC_000010.11:122514328:C:T p.(Ile471=) NC_000010.11:122514328:C:T p.(Ile471=) NC_000010.11:122514328:C:T Identity +NM_015466.4:c.48G>A NP_056281.1:p.Glu16= NC_000003.12:47381143:G:A p.(Glu16=) NC_000003.12:47381143:G:A p.(Glu16=) NC_000003.12:47381143:G:A Identity +NM_001201459.2:c.1230C>T NP_001188388.1:p.Phe410= NC_000002.12:27377754:G:A p.(Phe410=) NC_000002.12:27377754:G:A p.(Phe410=) NC_000002.12:27377754:G:A Identity +NM_001271.4:c.3639C>T NP_001262.3:p.Ser1213= NC_000015.10:92996999:C:T p.(Ser1213=) NC_000015.10:92996999:C:T p.(Ser1213=) NC_000015.10:92996999:C:T Identity +NM_006846.4:c.1563T>C NP_006837.2:p.Asp521= NC_000005.10:148107119:T:C p.(Asp521=) NC_000005.10:148107119:T:C p.(Asp521=) NC_000005.10:148107119:T:C Identity +NM_000553.6:c.2229A>G NP_000544.2:p.Thr743= NC_000008.11:31111754:A:G p.(Thr743=) NC_000008.11:31111754:A:G p.(Thr743=) NC_000008.11:31111754:A:G Identity +NM_006767.4:c.909C>T NP_006758.2:p.Ala303= NC_000022.11:20991744:C:T p.(Ala303=) NC_000022.11:20991744:C:T p.(Ala303=) NC_000022.11:20991744:C:T Identity +NM_000263.4:c.1489C>T NP_000254.2:p.Leu497= NC_000017.11:42543494:C:T p.(Leu497=) NC_000017.11:42543494:C:T p.(Leu497=) NC_000017.11:42543494:C:T Identity +NM_000562.3:c.1395C>T NP_000553.1:p.His465= NC_000001.11:56912416:C:T p.(His465=) NC_000001.11:56912416:C:T p.(His465=) NC_000001.11:56912416:C:T Identity +NM_001159699.2:c.108G>A NP_001153171.1:p.Val36= NC_000023.11:136206491:G:A p.(Val36=) NC_000023.11:136206491:G:A p.(Val36=) NC_000023.11:136206491:G:A Identity +NM_001317090.2:c.540C>T NP_001304019.1:p.Cys180= NC_000011.10:64297531:C:T p.(Cys180=) NC_000011.10:64297531:C:T p.(Cys180=) NC_000011.10:64297531:C:T Identity +NM_001127207.2:c.2622C>T NP_001120679.1:p.Tyr874= NC_000002.12:216478295:C:T p.(Tyr874=) NC_000002.12:216478295:C:T p.(Tyr874=) NC_000002.12:216478295:C:T Identity +NM_001318520.2:c.3447A>G NP_001305449.1:p.Leu1149= NC_000018.10:70017644:T:C p.(Leu1149=) NC_000018.10:70017644:T:C p.(Leu1149=) NC_000018.10:70017644:T:C Identity +NM_021102.4:c.141C>T NP_066925.1:p.Cys47= NC_000019.10:38283660:C:T p.(Cys47=) NC_000019.10:38283660:C:T p.(Cys47=) NC_000019.10:38283660:C:T Identity +NM_001385204.1:c.2475A>G NP_001372133.1:p.Leu825= NC_000019.10:10357754:T:C p.(Leu825=) NC_000019.10:10357754:T:C p.(Leu825=) NC_000019.10:10357754:T:C Identity +NM_001006600.3:c.1674A>G NP_001006600.1:p.Val558= NC_000005.10:66046423:A:G p.(Val558=) NC_000005.10:66046423:A:G p.(Val558=) NC_000005.10:66046423:A:G Identity +NM_000548.5:c.5346C>A NP_000539.2:p.Ala1782= NC_000016.10:2088531:C:A p.(Ala1782=) NC_000016.10:2088531:C:A p.(Ala1782=) NC_000016.10:2088531:C:A Identity +NM_020376.4:c.414C>T NP_065109.1:p.Leu138= NC_000011.10:821853:C:T p.(Leu138=) NC_000011.10:821853:C:T p.(Leu138=) NC_000011.10:821853:C:T Identity +NM_001037333.3:c.1884G>A NP_001032410.1:p.Glu628= NC_000005.10:157325539:G:A p.(Glu628=) NC_000005.10:157325539:G:A p.(Glu628=) NC_000005.10:157325539:G:A Identity +NM_024700.4:c.1122G>A NP_078976.2:p.Ser374= NC_000001.11:37537816:C:T p.(Ser374=) NC_000001.11:37537816:C:T p.(Ser374=) NC_000001.11:37537816:C:T Identity +NM_006204.4:c.204C>T NP_006195.3:p.Thr68= NC_000010.11:93612928:C:T p.(Thr68=) NC_000010.11:93612928:C:T p.(Thr68=) NC_000010.11:93612928:C:T Identity +NM_001160130.2:c.1824A>G NP_001153602.1:p.Glu608= NC_000006.12:73194465:A:G p.(Glu608=) NC_000006.12:73194465:A:G p.(Glu608=) NC_000006.12:73194465:A:G Identity +NM_005733.3:c.1290T>C NP_005724.1:p.Ile430= NC_000005.10:138184042:T:C p.(Ile430=) NC_000005.10:138184042:T:C p.(Ile430=) NC_000005.10:138184042:T:C Identity +NM_001130992.3:c.27C>G NP_001124464.1:p.Arg9= NC_000003.12:139539691:G:C p.(Arg9=) NC_000003.12:139539691:G:C p.(Arg9=) NC_000003.12:139539691:G:C Identity +NM_006019.4:c.609G>A NP_006010.2:p.Gln203= NC_000011.10:68043475:G:A p.(Gln203=) NC_000011.10:68043475:G:A p.(Gln203=) NC_000011.10:68043475:G:A Identity +NM_001346279.2:c.819C>T NP_001333208.1:p.Asn273= NC_000011.10:10762023:C:T p.(Asn273=) NC_000011.10:10762023:C:T p.(Asn273=) NC_000011.10:10762023:C:T Identity +NM_001164507.2:c.18177G>A NP_001157979.2:p.Leu6059= NC_000002.12:151565799:C:T p.(Leu6059=) NC_000002.12:151565799:C:T p.(Leu6059=) NC_000002.12:151565799:C:T Identity +NM_001024666.3:c.1389C>A NP_001019837.1:p.Ser463= NC_000023.11:19546044:G:T p.(Ser463=) NC_000023.11:19546044:G:T p.(Ser463=) NC_000023.11:19546044:G:T Identity +NM_005257.6:c.141C>T NP_005248.2:p.Ser47= NC_000018.10:22171284:C:T p.(Ser47=) NC_000018.10:22171284:C:T p.(Ser47=) NC_000018.10:22171284:C:T Identity +NM_006231.4:c.1641C>G NP_006222.2:p.Leu547= NC_000012.12:132672671:G:C p.(Leu547=) NC_000012.12:132672671:G:C p.(Leu547=) NC_000012.12:132672671:G:C Identity +NM_020461.4:c.1434C>T NP_065194.3:p.Gly478= NC_000022.11:50227055:G:A p.(Gly478=) NC_000022.11:50227055:G:A p.(Gly478=) NC_000022.11:50227055:G:A Identity +NM_015180.6:c.4413C>A NP_055995.4:p.Ile1471= NC_000014.9:64007057:C:A p.(Ile1471=) NC_000014.9:64007057:C:A p.(Ile1471=) NC_000014.9:64007057:C:A Identity +NM_001352500.2:c.450T>C NP_001339429.1:p.Phe150= NC_000013.11:49555667:A:G p.(Phe150=) NC_000013.11:49555667:A:G p.(Phe150=) NC_000013.11:49555667:A:G Identity +NM_001013703.4:c.2511T>C NP_001013725.2:p.Ala837= NC_000015.10:39988089:T:C p.(Ala837=) NC_000015.10:39988089:T:C p.(Ala837=) NC_000015.10:39988089:T:C Identity +NM_001098426.2:c.435A>G NP_001091896.1:p.Leu145= NC_000017.11:63837203:T:C p.(Leu145=) NC_000017.11:63837203:T:C p.(Leu145=) NC_000017.11:63837203:T:C Identity +NM_001018037.2:c.5109A>G NP_001018047.1:p.Val1703= NC_000009.12:77318503:A:G p.(Val1703=) NC_000009.12:77318503:A:G p.(Val1703=) NC_000009.12:77318503:A:G Identity +NM_022095.4:c.645C>G NP_071378.1:p.Ser215= NC_000020.11:45967902:G:C p.(Ser215=) NC_000020.11:45967902:G:C p.(Ser215=) NC_000020.11:45967902:G:C Identity +NM_002661.5:c.1662G>A NP_002652.2:p.Thr554= NC_000016.10:81908519:G:A p.(Thr554=) NC_000016.10:81908519:G:A p.(Thr554=) NC_000016.10:81908519:G:A Identity +NM_001329556.3:c.306C>T NP_001316485.1:p.Ser102= NC_000019.10:1495564:C:T p.(Ser102=) NC_000019.10:1495564:C:T p.(Ser102=) NC_000019.10:1495564:C:T Identity +NM_001112808.3:c.1371T>C NP_001106279.3:p.Val457= NC_000001.11:74354019:T:C p.(Val457=) NC_000001.11:74354019:T:C p.(Val457=) NC_000001.11:74354019:T:C Identity +NM_001291285.3:c.6849G>T NP_001278214.1:p.Val2283= NC_000004.12:125416452:G:T p.(Val2283=) NC_000004.12:125416452:G:T p.(Val2283=) NC_000004.12:125416452:G:T Identity +NM_001282489.3:c.777C>T NP_001269418.1:p.Ser259= NC_000017.11:74919749:G:A p.(Ser259=) NC_000017.11:74919749:G:A p.(Ser259=) NC_000017.11:74919749:G:A Identity +NM_182894.3:c.48A>T NP_878314.1:p.Thr16= NC_000014.9:74239608:A:T p.(Thr16=) NC_000014.9:74239608:A:T p.(Thr16=) NC_000014.9:74239608:A:T Identity +NM_000158.4:c.1434G>A NP_000149.4:p.Glu478= NC_000003.12:81581176:C:T p.(Glu478=) NC_000003.12:81581176:C:T p.(Glu478=) NC_000003.12:81581176:C:T Identity +NM_001317799.2:c.1224T>C NP_001304728.1:p.Asn408= NC_000004.12:122935792:T:C p.(Asn408=) NC_000004.12:122935792:T:C p.(Asn408=) NC_000004.12:122935792:T:C Identity +NM_000391.4:c.459C>T NP_000382.3:p.Ser153= NC_000011.10:6617349:G:A p.(Ser153=) NC_000011.10:6617349:G:A p.(Ser153=) NC_000011.10:6617349:G:A Identity +NM_080669.6:c.1122C>T NP_542400.2:p.Val374= NC_000017.11:28402280:G:A p.(Val374=) NC_000017.11:28402280:G:A p.(Val374=) NC_000017.11:28402280:G:A Identity +NM_001290184.2:c.543G>A NP_001277113.1:p.Leu181= NC_000001.11:160351241:G:A p.(Leu181=) NC_000001.11:160351241:G:A p.(Leu181=) NC_000001.11:160351241:G:A Identity +NM_001037333.3:c.1482C>T NP_001032410.1:p.Pro494= NC_000005.10:157319886:C:T p.(Pro494=) NC_000005.10:157319886:C:T p.(Pro494=) NC_000005.10:157319886:C:T Identity +NM_001171.6:c.2973C>T NP_001162.5:p.Phe991= NC_000016.10:16169667:G:A p.(Phe991=) NC_000016.10:16169667:G:A p.(Phe991=) NC_000016.10:16169667:G:A Identity +NM_001146158.2:c.1377G>A NP_001139630.1:p.Arg459= NC_000002.12:74462093:C:T p.(Arg459=) NC_000002.12:74462093:C:T p.(Arg459=) NC_000002.12:74462093:C:T Identity +NM_020795.4:c.1533C>T NP_065846.1:p.Pro511= NC_000017.11:7416005:C:T p.(Pro511=) NC_000017.11:7416005:C:T p.(Pro511=) NC_000017.11:7416005:C:T Identity +NM_020928.2:c.3390C>T NP_065979.1:p.Leu1130= NC_000005.10:61544058:C:T p.(Leu1130=) NC_000005.10:61544058:C:T p.(Leu1130=) NC_000005.10:61544058:C:T Identity +NM_001388492.1:c.2790A>G NP_001375421.1:p.Ser930= NC_000004.12:3136317:A:G p.(Ser930=) NC_000004.12:3136317:A:G p.(Ser930=) NC_000004.12:3136317:A:G Identity +NM_000832.7:c.1242G>C NP_000823.4:p.Thr414= NC_000009.12:137161099:G:C p.(Thr414=) NC_000009.12:137161099:G:C p.(Thr414=) NC_000009.12:137161099:G:C Identity +NM_001111.5:c.735T>C NP_001102.3:p.Phe245= NC_000001.11:154601906:A:G p.(Phe245=) NC_000001.11:154601906:A:G p.(Phe245=) NC_000001.11:154601906:A:G Identity +NM_032119.4:c.8583A>G NP_115495.3:p.Thr2861= NC_000005.10:90706246:A:G p.(Thr2861=) NC_000005.10:90706246:A:G p.(Thr2861=) NC_000005.10:90706246:A:G Identity +NM_020461.4:c.2547G>A NP_065194.3:p.Glu849= NC_000022.11:50221811:C:T p.(Glu849=) NC_000022.11:50221811:C:T p.(Glu849=) NC_000022.11:50221811:C:T Identity +NM_001198938.2:c.2004G>A NP_001185867.1:p.Leu668= NC_000018.10:34882170:G:A p.(Leu668=) NC_000018.10:34882170:G:A p.(Leu668=) NC_000018.10:34882170:G:A Identity +NM_001271.4:c.2418G>A NP_001262.3:p.Arg806= NC_000015.10:92972329:G:A p.(Arg806=) NC_000015.10:92972329:G:A p.(Arg806=) NC_000015.10:92972329:G:A Identity +NM_001306090.2:c.930A>C NP_001293019.1:p.Leu310= NC_000004.12:5745331:A:C p.(Leu310=) NC_000004.12:5745331:A:C p.(Leu310=) NC_000004.12:5745331:A:C Identity +NM_001256849.1:c.1287C>T NP_001243778.1:p.Ser429= NC_000019.10:50406225:C:T p.(Ser429=) NC_000019.10:50406225:C:T p.(Ser429=) NC_000019.10:50406225:C:T Identity +NM_000521.4:c.135C>T NP_000512.2:p.Ala45= NC_000005.10:74685394:C:T p.(Ala45=) NC_000005.10:74685394:C:T p.(Ala45=) NC_000005.10:74685394:C:T Identity +NM_001083961.2:c.1891T>C NP_001077430.1:p.Leu631= NC_000019.10:36089238:T:C p.(Leu631=) NC_000019.10:36089238:T:C p.(Leu631=) NC_000019.10:36089238:T:C Identity +NM_001377289.1:c.372G>A NP_001364218.1:p.Gly124= NC_000006.12:70271696:C:T p.(Gly124=) NC_000006.12:70271696:C:T p.(Gly124=) NC_000006.12:70271696:C:T Identity +NM_001621.5:c.108C>G NP_001612.1:p.Ser36= NC_000007.14:17309977:C:G p.(Ser36=) NC_000007.14:17309977:C:G p.(Ser36=) NC_000007.14:17309977:C:G Identity +NM_001271427.2:c.927G>A NP_001258356.1:p.Thr309= NC_000001.11:19239844:C:T p.(Thr309=) NC_000001.11:19239844:C:T p.(Thr309=) NC_000001.11:19239844:C:T Identity +NM_001244580.2:c.7947G>A NP_001231509.1:p.Ala2649= NC_000007.14:98976490:G:A p.(Ala2649=) NC_000007.14:98976490:G:A p.(Ala2649=) NC_000007.14:98976490:G:A Identity +NM_012469.4:c.2640C>T NP_036601.2:p.Phe880= NC_000020.11:64032010:C:T p.(Phe880=) NC_000020.11:64032010:C:T p.(Phe880=) NC_000020.11:64032010:C:T Identity +NM_001371986.1:c.1608C>T NP_001358915.1:p.Ser536= NC_000002.12:209817866:C:T p.(Ser536=) NC_000002.12:209817866:C:T p.(Ser536=) NC_000002.12:209817866:C:T Identity +NM_001378454.1:c.282G>A NP_001365383.1:p.Pro94= NC_000002.12:73386149:G:A p.(Pro94=) NC_000002.12:73386149:G:A p.(Pro94=) NC_000002.12:73386149:G:A Identity +NM_001077397.1:c.486C>T NP_001070865.1:p.Phe162= NC_000001.11:234609008:G:A p.(Phe162=) NC_000001.11:234609008:G:A p.(Phe162=) NC_000001.11:234609008:G:A Identity +NM_001080467.3:c.540C>T NP_001073936.1:p.Phe180= NC_000018.10:50001326:G:A p.(Phe180=) NC_000018.10:50001326:G:A p.(Phe180=) NC_000018.10:50001326:G:A Identity +NM_001039141.3:c.4299G>A NP_001034230.1:p.Pro1433= NC_000022.11:37734634:G:A p.(Pro1433=) NC_000022.11:37734634:G:A p.(Pro1433=) NC_000022.11:37734634:G:A Identity +NM_001018041.2:c.360T>C NP_001018051.1:p.Gly120= NC_000006.12:145686237:A:G p.(Gly120=) NC_000006.12:145686237:A:G p.(Gly120=) NC_000006.12:145686237:A:G Identity +NM_000335.5:c.513G>A NP_000326.2:p.Glu171= NC_000003.12:38620940:C:T p.(Glu171=) NC_000003.12:38620940:C:T p.(Glu171=) NC_000003.12:38620940:C:T Identity +NM_004260.4:c.2955G>C NP_004251.4:p.Val985= NC_000008.11:144512491:C:G p.(Val985=) NC_000008.11:144512491:C:G p.(Val985=) NC_000008.11:144512491:C:G Identity +NM_000334.4:c.2829T>C NP_000325.4:p.Thr943= NC_000017.11:63951447:A:G p.(Thr943=) NC_000017.11:63951447:A:G p.(Thr943=) NC_000017.11:63951447:A:G Identity +NM_032119.4:c.2925C>T NP_115495.3:p.Thr975= NC_000005.10:90645993:C:T p.(Thr975=) NC_000005.10:90645993:C:T p.(Thr975=) NC_000005.10:90645993:C:T Identity +NM_000527.5:c.483C>A NP_000518.1:p.Ile161= NC_000019.10:11105388:C:A p.(Ile161=) NC_000019.10:11105388:C:A p.(Ile161=) NC_000019.10:11105388:C:A Identity +NM_032119.4:c.9192T>C NP_115495.3:p.Ile3064= NC_000005.10:90716473:T:C p.(Ile3064=) NC_000005.10:90716473:T:C p.(Ile3064=) NC_000005.10:90716473:T:C Identity +NM_001164507.2:c.23637C>T NP_001157979.2:p.Asp7879= NC_000002.12:151506177:G:A p.(Asp7879=) NC_000002.12:151506177:G:A p.(Asp7879=) NC_000002.12:151506177:G:A Identity +NM_000335.5:c.1893C>T NP_000326.2:p.Thr631= NC_000003.12:38599047:G:A p.(Thr631=) NC_000003.12:38599047:G:A p.(Thr631=) NC_000003.12:38599047:G:A Identity +NM_000033.4:c.1035C>T NP_000024.2:p.Leu345= NC_000023.11:153729365:C:T p.(Leu345=) NC_000023.11:153729365:C:T p.(Leu345=) NC_000023.11:153729365:C:T Identity +NM_001281463.1:c.3561C>T NP_001268392.1:p.Asp1187= NC_000023.11:53380177:G:A p.(Asp1187=) NC_000023.11:53380177:G:A p.(Asp1187=) NC_000023.11:53380177:G:A Identity +NM_145290.4:c.3343T>C NP_660333.2:p.Leu1115= NC_000004.12:22388327:A:G p.(Leu1115=) NC_000004.12:22388327:A:G p.(Leu1115=) NC_000004.12:22388327:A:G Identity +NM_000532.5:c.675C>T NP_000523.2:p.Ile225= NC_000003.12:136293775:C:T p.(Ile225=) NC_000003.12:136293775:C:T p.(Ile225=) NC_000003.12:136293775:C:T Identity +NM_000048.4:c.276T>C NP_000039.2:p.Asn92= NC_000007.14:66082435:T:C p.(Asn92=) NC_000007.14:66082435:T:C p.(Asn92=) NC_000007.14:66082435:T:C Identity +NM_001168298.2:c.159T>C NP_001161770.1:p.Ile53= NC_000002.12:218134959:T:C p.(Ile53=) NC_000002.12:218134959:T:C p.(Ile53=) NC_000002.12:218134959:T:C Identity +NM_015378.4:c.5889C>T NP_056193.2:p.His1963= NC_000001.11:12293559:C:T p.(His1963=) NC_000001.11:12293559:C:T p.(His1963=) NC_000001.11:12293559:C:T Identity +NM_001291997.2:c.567C>T NP_001278926.1:p.Leu189= NC_000016.10:78432601:C:T p.(Leu189=) NC_000016.10:78432601:C:T p.(Leu189=) NC_000016.10:78432601:C:T Identity +NM_001379500.1:c.465C>T NP_001366429.1:p.Leu155= NC_000021.9:45468599:C:T p.(Leu155=) NC_000021.9:45468599:C:T p.(Leu155=) NC_000021.9:45468599:C:T Identity +NM_001282708.1:c.741G>A NP_001269637.1:p.Lys247= NC_000009.12:130703710:G:A p.(Lys247=) NC_000009.12:130703710:G:A p.(Lys247=) NC_000009.12:130703710:G:A Identity +NM_020699.4:c.1503C>T NP_065750.1:p.Thr501= NC_000001.11:153812048:G:A p.(Thr501=) NC_000001.11:153812048:G:A p.(Thr501=) NC_000001.11:153812048:G:A Identity +NM_001256850.1:c.98151T>C NP_001243779.1:p.Asp32717= NC_000002.12:178533540:A:G p.(Asp32717=) NC_000002.12:178533540:A:G p.(Asp32717=) NC_000002.12:178533540:A:G Identity +NM_032806.6:c.483C>T NP_116195.2:p.Pro161= NC_000003.12:43080948:G:A p.(Pro161=) NC_000003.12:43080948:G:A p.(Pro161=) NC_000003.12:43080948:G:A Identity +NM_004560.4:c.2094C>T NP_004551.2:p.Asn698= NC_000009.12:91724399:G:A p.(Asn698=) NC_000009.12:91724399:G:A p.(Asn698=) NC_000009.12:91724399:G:A Identity +NM_001256063.2:c.1542C>T NP_001242992.1:p.Ala514= NC_000012.12:40944028:C:T p.(Ala514=) NC_000012.12:40944028:C:T p.(Ala514=) NC_000012.12:40944028:C:T Identity +NM_001113178.3:c.999A>C NP_001106649.1:p.Thr333= NC_000016.10:69653421:A:C p.(Thr333=) NC_000016.10:69653421:A:C p.(Thr333=) NC_000016.10:69653421:A:C Identity +NM_002796.3:c.705C>T NP_002787.2:p.Ala235= NC_000001.11:151401552:C:T p.(Ala235=) NC_000001.11:151401552:C:T p.(Ala235=) NC_000001.11:151401552:C:T Identity +NM_001077186.2:c.2793C>T NP_001070654.1:p.Ala931= NC_000019.10:50268225:C:T p.(Ala931=) NC_000019.10:50268225:C:T p.(Ala931=) NC_000019.10:50268225:C:T Identity +NM_001350626.2:c.288G>A NP_001337555.1:p.Gly96= NC_000007.14:2545050:C:T p.(Gly96=) NC_000007.14:2545050:C:T p.(Gly96=) NC_000007.14:2545050:C:T Identity +NM_000744.7:c.1569A>T NP_000735.1:p.Pro523= NC_000020.11:63349841:T:A p.(Pro523=) NC_000020.11:63349841:T:A p.(Pro523=) NC_000020.11:63349841:T:A Identity +NM_001278055.2:c.3597T>C NP_001264984.1:p.Asp1199= NC_000013.11:23339837:A:G p.(Asp1199=) NC_000013.11:23339837:A:G p.(Asp1199=) NC_000013.11:23339837:A:G Identity +NM_000019.4:c.1239C>T NP_000010.1:p.Cys413= NC_000011.10:108147344:C:T p.(Cys413=) NC_000011.10:108147344:C:T p.(Cys413=) NC_000011.10:108147344:C:T Identity +NM_001290307.3:c.681A>G NP_001277236.1:p.Ala227= NC_000005.10:138824621:A:G p.(Ala227=) NC_000005.10:138824621:A:G p.(Ala227=) NC_000005.10:138824621:A:G Identity +NM_001384732.1:c.3531A>G NP_001371661.1:p.Leu1177= NC_000005.10:37198842:T:C p.(Leu1177=) NC_000005.10:37198842:T:C p.(Leu1177=) NC_000005.10:37198842:T:C Identity +NM_005554.4:c.1023T>C NP_005545.1:p.Tyr341= NC_000012.12:52490622:A:G p.(Tyr341=) NC_000012.12:52490622:A:G p.(Tyr341=) NC_000012.12:52490622:A:G Identity +NM_005732.4:c.1044T>G NP_005723.2:p.Val348= NC_000005.10:132588081:T:G p.(Val348=) NC_000005.10:132588081:T:G p.(Val348=) NC_000005.10:132588081:T:G Identity +NM_001100913.3:c.1272C>T NP_001094383.2:p.Ser424= NC_000014.9:105381916:C:T p.(Ser424=) NC_000014.9:105381916:C:T p.(Ser424=) NC_000014.9:105381916:C:T Identity +NM_000445.5:c.5481C>T NP_000436.2:p.Ala1827= NC_000008.11:143924528:G:A p.(Ala1827=) NC_000008.11:143924528:G:A p.(Ala1827=) NC_000008.11:143924528:G:A Identity +NM_001365819.1:c.4560T>G NP_001352748.1:p.Arg1520= NC_000022.11:50455061:A:C p.(Arg1520=) NC_000022.11:50455061:A:C p.(Arg1520=) NC_000022.11:50455061:A:C Identity +NM_000033.4:c.1950G>C NP_000024.2:p.Ala650= NC_000023.11:153743304:G:C p.(Ala650=) NC_000023.11:153743304:G:C p.(Ala650=) NC_000023.11:153743304:G:C Identity +NM_000260.4:c.4527G>A NP_000251.3:p.Leu1509= NC_000011.10:77198579:G:A p.(Leu1509=) NC_000011.10:77198579:G:A p.(Leu1509=) NC_000011.10:77198579:G:A Identity +NM_001098511.3:c.768A>G NP_001091981.1:p.Val256= NC_000005.10:62358194:A:G p.(Val256=) NC_000005.10:62358194:A:G p.(Val256=) NC_000005.10:62358194:A:G Identity +NM_000236.3:c.279C>T NP_000227.2:p.Asp93= NC_000015.10:58541789:C:T p.(Asp93=) NC_000015.10:58541789:C:T p.(Asp93=) NC_000015.10:58541789:C:T Identity +NM_170606.3:c.12969T>C NP_733751.2:p.Asp4323= NC_000007.14:152148957:A:G p.(Asp4323=) NC_000007.14:152148957:A:G p.(Asp4323=) NC_000007.14:152148957:A:G Identity +NM_000088.4:c.1293T>C NP_000079.2:p.Gly431= NC_000017.11:50195237:A:G p.(Gly431=) NC_000017.11:50195237:A:G p.(Gly431=) NC_000017.11:50195237:A:G Identity +NM_000528.4:c.1341C>T NP_000519.2:p.Asp447= NC_000019.10:12657523:G:A p.(Asp447=) NC_000019.10:12657523:G:A p.(Asp447=) NC_000019.10:12657523:G:A Identity +NM_006308.3:c.420G>A NP_006299.1:p.Val140= NC_000005.10:54456208:G:A p.(Val140=) NC_000005.10:54456208:G:A p.(Val140=) NC_000005.10:54456208:G:A Identity +NM_001041.4:c.1995C>T NP_001032.2:p.Asp665= NC_000003.12:165043067:G:A p.(Asp665=) NC_000003.12:165043067:G:A p.(Asp665=) NC_000003.12:165043067:G:A Identity +NM_000445.5:c.2301G>A NP_000436.2:p.Lys767= NC_000008.11:143931617:C:T p.(Lys767=) NC_000008.11:143931617:C:T p.(Lys767=) NC_000008.11:143931617:C:T Identity +NM_001318245.2:c.6624C>T NP_001305174.1:p.Asp2208= NC_000022.11:26026594:C:T p.(Asp2208=) NC_000022.11:26026594:C:T p.(Asp2208=) NC_000022.11:26026594:C:T Identity +NM_138704.4:c.117C>G NP_619649.1:p.Leu39= NC_000015.10:29269588:G:C p.(Leu39=) NC_000015.10:29269588:G:C p.(Leu39=) NC_000015.10:29269588:G:C Identity +NM_000251.3:c.381T>C NP_000242.1:p.Asn127= NC_000002.12:47410107:T:C p.(Asn127=) NC_000002.12:47410107:T:C p.(Asn127=) NC_000002.12:47410107:T:C Identity +NM_004706.4:c.2016C>T NP_004697.2:p.Asp672= NC_000019.10:41904237:C:T p.(Asp672=) NC_000019.10:41904237:C:T p.(Asp672=) NC_000019.10:41904237:C:T Identity +NM_002334.4:c.3585C>T NP_002325.2:p.Ser1195= NC_000011.10:46875917:G:A p.(Ser1195=) NC_000011.10:46875917:G:A p.(Ser1195=) NC_000011.10:46875917:G:A Identity +NM_001168298.2:c.804C>T NP_001161770.1:p.Asn268= NC_000002.12:218135604:C:T p.(Asn268=) NC_000002.12:218135604:C:T p.(Asn268=) NC_000002.12:218135604:C:T Identity +NM_052859.4:c.1071C>T NP_443091.1:p.Ile357= NC_000003.12:53103983:G:A p.(Ile357=) NC_000003.12:53103983:G:A p.(Ile357=) NC_000003.12:53103983:G:A Identity +NM_006059.4:c.297G>A NP_006050.3:p.Glu99= NC_000009.12:131009510:G:A p.(Glu99=) NC_000009.12:131009510:G:A p.(Glu99=) NC_000009.12:131009510:G:A Identity +NM_001282512.3:c.771C>T NP_001269441.1:p.Asp257= NC_000022.11:19898041:G:A p.(Asp257=) NC_000022.11:19898041:G:A p.(Asp257=) NC_000022.11:19898041:G:A Identity +NM_001289156.2:c.987C>T NP_001276085.1:p.Ala329= NC_000015.10:74897594:C:T p.(Ala329=) NC_000015.10:74897594:C:T p.(Ala329=) NC_000015.10:74897594:C:T Identity +NM_004525.3:c.11451C>T NP_004516.2:p.Cys3817= NC_000002.12:169169747:G:A p.(Cys3817=) NC_000002.12:169169747:G:A p.(Cys3817=) NC_000002.12:169169747:G:A Identity +NM_001143839.4:c.1479C>G NP_001137311.1:p.Arg493= NC_000011.10:72584587:G:C p.(Arg493=) NC_000011.10:72584587:G:C p.(Arg493=) NC_000011.10:72584587:G:C Identity +NM_001371986.1:c.6705G>A NP_001358915.1:p.Leu2235= NC_000002.12:209941278:G:A p.(Leu2235=) NC_000002.12:209941278:G:A p.(Leu2235=) NC_000002.12:209941278:G:A Identity +NM_001378454.1:c.333A>G NP_001365383.1:p.Pro111= NC_000002.12:73408629:A:G p.(Pro111=) NC_000002.12:73408629:A:G p.(Pro111=) NC_000002.12:73408629:A:G Identity +NM_000536.4:c.1338C>T NP_000527.2:p.Cys446= NC_000011.10:36592830:G:A p.(Cys446=) NC_000011.10:36592830:G:A p.(Cys446=) NC_000011.10:36592830:G:A Identity +NM_001126131.2:c.1431G>A NP_001119603.1:p.Glu477= NC_000015.10:89327168:C:T p.(Glu477=) NC_000015.10:89327168:C:T p.(Glu477=) NC_000015.10:89327168:C:T Identity +NM_000339.3:c.1872C>T NP_000330.3:p.Ala624= NC_000016.10:56885310:C:T p.(Ala624=) NC_000016.10:56885310:C:T p.(Ala624=) NC_000016.10:56885310:C:T Identity +NM_017890.5:c.7992C>T NP_060360.3:p.Ser2664= NC_000008.11:99784451:C:T p.(Ser2664=) NC_000008.11:99784451:C:T p.(Ser2664=) NC_000008.11:99784451:C:T Identity +NM_001114331.3:c.1752G>A NP_001107803.1:p.Leu584= NC_000016.10:1448739:C:T p.(Leu584=) NC_000016.10:1448739:C:T p.(Leu584=) NC_000016.10:1448739:C:T Identity +NM_032228.6:c.1254A>G NP_115604.1:p.Lys418= NC_000011.10:13721855:A:G p.(Lys418=) NC_000011.10:13721855:A:G p.(Lys418=) NC_000011.10:13721855:A:G Identity +NM_000177.5:c.603C>T NP_000168.1:p.Thr201= NC_000009.12:121310781:C:T p.(Thr201=) NC_000009.12:121310781:C:T p.(Thr201=) NC_000009.12:121310781:C:T Identity +NM_019098.5:c.1227T>C NP_061971.3:p.Gly409= NC_000008.11:86632844:A:G p.(Gly409=) NC_000008.11:86632844:A:G p.(Gly409=) NC_000008.11:86632844:A:G Identity +NM_199355.4:c.249C>T NP_955387.1:p.Asn83= NC_000016.10:77431540:G:A p.(Asn83=) NC_000016.10:77431540:G:A p.(Asn83=) NC_000016.10:77431540:G:A Identity +NM_022772.4:c.1845G>A NP_073609.2:p.Glu615= NC_000011.10:726394:G:A p.(Glu615=) NC_000011.10:726394:G:A p.(Glu615=) NC_000011.10:726394:G:A Identity +NM_000322.5:c.204G>A NP_000313.2:p.Gly68= NC_000006.12:42722130:C:T p.(Gly68=) NC_000006.12:42722130:C:T p.(Gly68=) NC_000006.12:42722130:C:T Identity +NM_000202.8:c.1564C>T NP_000193.1:p.Leu522= NC_000023.11:149482834:G:A p.(Leu522=) NC_000023.11:149482834:G:A p.(Leu522=) NC_000023.11:149482834:G:A Identity +NM_000127.3:c.2106G>A NP_000118.2:p.Gln702= NC_000008.11:117799846:C:T p.(Gln702=) NC_000008.11:117799846:C:T p.(Gln702=) NC_000008.11:117799846:C:T Identity +NM_000051.4:c.3882T>C NP_000042.3:p.Ile1294= NC_000011.10:108284361:T:C p.(Ile1294=) NC_000011.10:108284361:T:C p.(Ile1294=) NC_000011.10:108284361:T:C Identity +NM_001321978.2:c.114C>G NP_001308907.1:p.Ala38= NC_000010.11:26697824:C:G p.(Ala38=) NC_000010.11:26697824:C:G p.(Ala38=) NC_000010.11:26697824:C:G Identity +NM_201383.3:c.387C>T NP_958785.1:p.Ile129= NC_000008.11:143937038:G:A p.(Ile129=) NC_000008.11:143937038:G:A p.(Ile129=) NC_000008.11:143937038:G:A Identity +NM_006623.4:c.1599C>T NP_006614.2:p.Phe533= NC_000001.11:119744036:C:T p.(Phe533=) NC_000001.11:119744036:C:T p.(Phe533=) NC_000001.11:119744036:C:T Identity +NM_000053.4:c.354C>T NP_000044.2:p.Asp118= NC_000013.11:51974865:G:A p.(Asp118=) NC_000013.11:51974865:G:A p.(Asp118=) NC_000013.11:51974865:G:A Identity +NM_000462.5:c.1893A>C NP_000453.2:p.Val631= NC_000015.10:25356765:T:G p.(Val631=) NC_000015.10:25356765:T:G p.(Val631=) NC_000015.10:25356765:T:G Identity +NM_001037343.2:c.1377G>A NP_001032420.1:p.Gln459= NC_000023.11:18604300:G:A p.(Gln459=) NC_000023.11:18604300:G:A p.(Gln459=) NC_000023.11:18604300:G:A Identity +NM_005732.4:c.2769G>A NP_005723.2:p.Gln923= NC_000005.10:132608664:G:A p.(Gln923=) NC_000005.10:132608664:G:A p.(Gln923=) NC_000005.10:132608664:G:A Identity +NM_004104.5:c.2841A>G NP_004095.4:p.Ser947= NC_000017.11:82087978:T:C p.(Ser947=) NC_000017.11:82087978:T:C p.(Ser947=) NC_000017.11:82087978:T:C Identity +NM_005732.4:c.1134A>G NP_005723.2:p.Leu378= NC_000005.10:132588768:A:G p.(Leu378=) NC_000005.10:132588768:A:G p.(Leu378=) NC_000005.10:132588768:A:G Identity +NM_000019.4:c.180C>G NP_000010.1:p.Ser60= NC_000011.10:108133878:C:G p.(Ser60=) NC_000011.10:108133878:C:G p.(Ser60=) NC_000011.10:108133878:C:G Identity +NM_001160036.2:c.924C>T NP_001153508.1:p.Ser308= NC_000008.11:23007102:C:T p.(Ser308=) NC_000008.11:23007102:C:T p.(Ser308=) NC_000008.11:23007102:C:T Identity +NM_001378454.1:c.6243T>C NP_001365383.1:p.Thr2081= NC_000002.12:73452769:T:C p.(Thr2081=) NC_000002.12:73452769:T:C p.(Thr2081=) NC_000002.12:73452769:T:C Identity +NM_001112741.2:c.919C>T NP_001106212.1:p.Leu307= NC_000011.10:17772012:C:T p.(Leu307=) NC_000011.10:17772012:C:T p.(Leu307=) NC_000011.10:17772012:C:T Identity +NM_001257137.3:c.1467A>G NP_001244066.1:p.Thr489= NC_000020.11:34462140:A:G p.(Thr489=) NC_000020.11:34462140:A:G p.(Thr489=) NC_000020.11:34462140:A:G Identity +NM_000404.4:c.1638C>T NP_000395.3:p.Tyr546= NC_000003.12:33014151:G:A p.(Tyr546=) NC_000003.12:33014151:G:A p.(Tyr546=) NC_000003.12:33014151:G:A Identity +NM_014365.3:c.264C>A NP_055180.1:p.Pro88= NC_000012.12:119179575:C:A p.(Pro88=) NC_000012.12:119179575:C:A p.(Pro88=) NC_000012.12:119179575:C:A Identity +NM_153006.3:c.1074C>T NP_694551.1:p.Leu358= NC_000017.11:44006686:C:T p.(Leu358=) NC_000017.11:44006686:C:T p.(Leu358=) NC_000017.11:44006686:C:T Identity +NM_001289395.2:c.774G>T NP_001276324.1:p.Arg258= NC_000006.12:35506068:C:A p.(Arg258=) NC_000006.12:35506068:C:A p.(Arg258=) NC_000006.12:35506068:C:A Identity +NM_000832.7:c.2409C>T NP_000823.4:p.Asn803= NC_000009.12:137163633:C:T p.(Asn803=) NC_000009.12:137163633:C:T p.(Asn803=) NC_000009.12:137163633:C:T Identity +NM_006946.4:c.5583C>T NP_008877.2:p.Asp1861= NC_000011.10:66690265:G:A p.(Asp1861=) NC_000011.10:66690265:G:A p.(Asp1861=) NC_000011.10:66690265:G:A Identity +NM_001081640.2:c.8808C>T NP_001075109.1:p.Tyr2936= NC_000008.11:47823971:G:A p.(Tyr2936=) NC_000008.11:47823971:G:A p.(Tyr2936=) NC_000008.11:47823971:G:A Identity +NM_020928.2:c.678T>C NP_065979.1:p.Gly226= NC_000005.10:61472681:T:C p.(Gly226=) NC_000005.10:61472681:T:C p.(Gly226=) NC_000005.10:61472681:T:C Identity +NM_001364837.1:c.1896G>A NP_001351766.1:p.Val632= NC_000014.9:64442064:G:A p.(Val632=) NC_000014.9:64442064:G:A p.(Val632=) NC_000014.9:64442064:G:A Identity +NM_001372.4:c.6105C>T NP_001363.2:p.Ser2035= NC_000017.11:11742306:C:T p.(Ser2035=) NC_000017.11:11742306:C:T p.(Ser2035=) NC_000017.11:11742306:C:T Identity +NM_001142929.2:c.720G>A NP_001136401.2:p.Arg240= NC_000010.11:49627747:G:A p.(Arg240=) NC_000010.11:49627747:G:A p.(Arg240=) NC_000010.11:49627747:G:A Identity +NM_001272037.2:c.468C>T NP_001258966.1:p.Asp156= NC_000021.9:44529915:G:A p.(Asp156=) NC_000021.9:44529915:G:A p.(Asp156=) NC_000021.9:44529915:G:A Identity +NM_001364440.2:c.1590C>T NP_001351369.1:p.Phe530= NC_000005.10:7895765:C:T p.(Phe530=) NC_000005.10:7895765:C:T p.(Phe530=) NC_000005.10:7895765:C:T Identity +NM_001193640.2:c.1998C>T NP_001180569.1:p.Asn666= NC_000001.11:197427658:C:T p.(Asn666=) NC_000001.11:197427658:C:T p.(Asn666=) NC_000001.11:197427658:C:T Identity +NM_006767.4:c.1947A>G NP_006758.2:p.Thr649= NC_000022.11:20995749:A:G p.(Thr649=) NC_000022.11:20995749:A:G p.(Thr649=) NC_000022.11:20995749:A:G Identity +NM_004836.7:c.9C>T NP_004827.4:p.Arg3= NC_000002.12:88627265:G:A p.(Arg3=) NC_000002.12:88627265:G:A p.(Arg3=) NC_000002.12:88627265:G:A Identity +NM_001303245.3:c.1473G>A NP_001290174.1:p.Gln491= NC_000003.12:141574056:G:A p.(Gln491=) NC_000003.12:141574056:G:A p.(Gln491=) NC_000003.12:141574056:G:A Identity +NM_003764.4:c.387G>A NP_003755.2:p.Arg129= NC_000006.12:144187013:G:A p.(Arg129=) NC_000006.12:144187013:G:A p.(Arg129=) NC_000006.12:144187013:G:A Identity +NM_000046.5:c.321A>G NP_000037.2:p.Thr107= NC_000005.10:78969183:T:C p.(Thr107=) NC_000005.10:78969183:T:C p.(Thr107=) NC_000005.10:78969183:T:C Identity +NM_001256850.1:c.48225C>T NP_001243779.1:p.Asp16075= NC_000002.12:178607539:G:A p.(Asp16075=) NC_000002.12:178607539:G:A p.(Asp16075=) NC_000002.12:178607539:G:A Identity +NM_001193304.3:c.375C>T NP_001180233.1:p.Ile125= NC_000002.12:96254866:G:A p.(Ile125=) NC_000002.12:96254866:G:A p.(Ile125=) NC_000002.12:96254866:G:A Identity +NM_015629.4:c.780G>A NP_056444.3:p.Ser260= NC_000019.10:54124580:G:A p.(Ser260=) NC_000019.10:54124580:G:A p.(Ser260=) NC_000019.10:54124580:G:A Identity +NM_012203.2:c.352C>T NP_036335.1:p.Leu118= NC_000009.12:37426601:C:T p.(Leu118=) NC_000009.12:37426601:C:T p.(Leu118=) NC_000009.12:37426601:C:T Identity +NM_005618.4:c.132C>T NP_005609.3:p.Cys44= NC_000006.12:170289730:G:A p.(Cys44=) NC_000006.12:170289730:G:A p.(Cys44=) NC_000006.12:170289730:G:A Identity +NM_005431.2:c.651T>C NP_005422.1:p.Cys217= NC_000007.14:152648833:A:G p.(Cys217=) NC_000007.14:152648833:A:G p.(Cys217=) NC_000007.14:152648833:A:G Identity +NM_052945.4:c.174G>A NP_443177.1:p.Gln58= NC_000022.11:41926293:C:T p.(Gln58=) NC_000022.11:41926293:C:T p.(Gln58=) NC_000022.11:41926293:C:T Identity +NM_000414.4:c.498T>C NP_000405.1:p.Ala166= NC_000005.10:119478896:T:C p.(Ala166=) NC_000005.10:119478896:T:C p.(Ala166=) NC_000005.10:119478896:T:C Identity +NM_000090.4:c.366C>T NP_000081.2:p.Asp122= NC_000002.12:188985696:C:T p.(Asp122=) NC_000002.12:188985696:C:T p.(Asp122=) NC_000002.12:188985696:C:T Identity +NM_000109.4:c.1062G>A NP_000100.3:p.Leu354= NC_000023.11:32645026:C:T p.(Leu354=) NC_000023.11:32645026:C:T p.(Leu354=) NC_000023.11:32645026:C:T Identity +NM_006059.4:c.2854C>T NP_006050.3:p.Leu952= NC_000009.12:131069013:C:T p.(Leu952=) NC_000009.12:131069013:C:T p.(Leu952=) NC_000009.12:131069013:C:T Identity +NM_001377214.1:c.489T>C NP_001364143.1:p.Asp163= NC_000011.10:14880301:A:G p.(Asp163=) NC_000011.10:14880301:A:G p.(Asp163=) NC_000011.10:14880301:A:G Identity +NM_001308122.2:c.540C>T NP_001295051.1:p.Gly180= NC_000005.10:132378451:C:T p.(Gly180=) NC_000005.10:132378451:C:T p.(Gly180=) NC_000005.10:132378451:C:T Identity +NM_000169.3:c.303T>C NP_000160.1:p.Asp101= NC_000023.11:101403876:A:G p.(Asp101=) NC_000023.11:101403876:A:G p.(Asp101=) NC_000023.11:101403876:A:G Identity +NM_001002019.3:c.531G>C NP_001002019.1:p.Leu177= NC_000012.12:131941361:G:C p.(Leu177=) NC_000012.12:131941361:G:C p.(Leu177=) NC_000012.12:131941361:G:C Identity +NM_001371986.1:c.1953T>C NP_001358915.1:p.Leu651= NC_000002.12:209819251:T:C p.(Leu651=) NC_000002.12:209819251:T:C p.(Leu651=) NC_000002.12:209819251:T:C Identity +NM_001364440.2:c.87T>C NP_001351369.1:p.His29= NC_000005.10:7870880:T:C p.(His29=) NC_000005.10:7870880:T:C p.(His29=) NC_000005.10:7870880:T:C Identity +NM_080679.3:c.3591C>T NP_542410.2:p.Ser1197= NC_000006.12:33168566:G:A p.(Ser1197=) NC_000006.12:33168566:G:A p.(Ser1197=) NC_000006.12:33168566:G:A Identity +NM_020461.4:c.1044G>A NP_065194.3:p.Lys348= NC_000022.11:50233387:C:T p.(Lys348=) NC_000022.11:50233387:C:T p.(Lys348=) NC_000022.11:50233387:C:T Identity +NM_024652.6:c.5442G>A NP_078928.3:p.Ala1814= NC_000015.10:101065878:G:A p.(Ala1814=) NC_000015.10:101065878:G:A p.(Ala1814=) NC_000015.10:101065878:G:A Identity +NM_000337.6:c.828A>G NP_000328.2:p.Ala276= NC_000005.10:156759344:A:G p.(Ala276=) NC_000005.10:156759344:A:G p.(Ala276=) NC_000005.10:156759344:A:G Identity +NM_001375.3:c.504G>A NP_001366.1:p.Ser168= NC_000019.10:12878676:C:T p.(Ser168=) NC_000019.10:12878676:C:T p.(Ser168=) NC_000019.10:12878676:C:T Identity +NM_001145715.3:c.846G>A NP_001139187.1:p.Thr282= NC_000007.14:99188353:C:T p.(Thr282=) NC_000007.14:99188353:C:T p.(Thr282=) NC_000007.14:99188353:C:T Identity +NM_030665.4:c.1728C>T NP_109590.3:p.His576= NC_000017.11:17794675:C:T p.(His576=) NC_000017.11:17794675:C:T p.(His576=) NC_000017.11:17794675:C:T Identity +NM_001098426.2:c.1164C>T NP_001091896.1:p.Val388= NC_000017.11:63833925:G:A p.(Val388=) NC_000017.11:63833925:G:A p.(Val388=) NC_000017.11:63833925:G:A Identity +NM_001252043.2:c.3249G>A NP_001238972.1:p.Arg1083= NC_000016.10:29987859:G:A p.(Arg1083=) NC_000016.10:29987859:G:A p.(Arg1083=) NC_000016.10:29987859:G:A Identity +NM_001306079.2:c.5010C>T NP_001293008.1:p.His1670= NC_000002.12:27239177:C:T p.(His1670=) NC_000002.12:27239177:C:T p.(His1670=) NC_000002.12:27239177:C:T Identity +NM_001308122.2:c.258C>T NP_001295051.1:p.Leu86= NC_000005.10:132370229:C:T p.(Leu86=) NC_000005.10:132370229:C:T p.(Leu86=) NC_000005.10:132370229:C:T Identity +NM_000271.5:c.2172G>T NP_000262.2:p.Leu724= NC_000018.10:23543527:C:A p.(Leu724=) NC_000018.10:23543527:C:A p.(Leu724=) NC_000018.10:23543527:C:A Identity +NM_133259.4:c.1638A>G NP_573566.2:p.Leu546= NC_000002.12:43957395:T:C p.(Leu546=) NC_000002.12:43957395:T:C p.(Leu546=) NC_000002.12:43957395:T:C Identity +NM_020884.7:c.4284A>G NP_065935.4:p.Leu1428= NC_000020.11:34999148:A:G p.(Leu1428=) NC_000020.11:34999148:A:G p.(Leu1428=) NC_000020.11:34999148:A:G Identity +NM_022042.4:c.762C>T NP_071325.2:p.Arg254= NC_000004.12:990176:G:A p.(Arg254=) NC_000004.12:990176:G:A p.(Arg254=) NC_000004.12:990176:G:A Identity +NM_004525.3:c.8820G>A NP_004516.2:p.Arg2940= NC_000002.12:169193770:C:T p.(Arg2940=) NC_000002.12:169193770:C:T p.(Arg2940=) NC_000002.12:169193770:C:T Identity +NM_004092.4:c.354G>A NP_004083.3:p.Lys118= NC_000010.11:133369963:C:T p.(Lys118=) NC_000010.11:133369963:C:T p.(Lys118=) NC_000010.11:133369963:C:T Identity +NM_000083.3:c.663G>C NP_000074.3:p.Ala221= NC_000007.14:143321814:G:C p.(Ala221=) NC_000007.14:143321814:G:C p.(Ala221=) NC_000007.14:143321814:G:C Identity +NM_000360.4:c.156G>T NP_000351.2:p.Ala52= NC_000011.10:2169805:C:A p.(Ala52=) NC_000011.10:2169805:C:A p.(Ala52=) NC_000011.10:2169805:C:A Identity +NM_000546.6:c.261A>C NP_000537.3:p.Pro87= NC_000017.11:7676107:T:G p.(Pro87=) NC_000017.11:7676107:T:G p.(Pro87=) NC_000017.11:7676107:T:G Identity +NM_001127207.2:c.2392C>T NP_001120679.1:p.Leu798= NC_000002.12:216475415:C:T p.(Leu798=) NC_000002.12:216475415:C:T p.(Leu798=) NC_000002.12:216475415:C:T Identity +NM_004655.4:c.1809T>G NP_004646.3:p.Ala603= NC_000017.11:65536966:A:C p.(Ala603=) NC_000017.11:65536966:A:C p.(Ala603=) NC_000017.11:65536966:A:C Identity +NM_001308093.3:c.69C>T NP_001295022.1:p.Pro23= NC_000008.11:11708380:C:T p.(Pro23=) NC_000008.11:11708380:C:T p.(Pro23=) NC_000008.11:11708380:C:T Identity +NM_006063.3:c.795A>G NP_006054.2:p.Glu265= NC_000002.12:169510572:A:G p.(Glu265=) NC_000002.12:169510572:A:G p.(Glu265=) NC_000002.12:169510572:A:G Identity +NM_000701.8:c.444C>T NP_000692.2:p.Tyr148= NC_000001.11:116388186:C:T p.(Tyr148=) NC_000001.11:116388186:C:T p.(Tyr148=) NC_000001.11:116388186:C:T Identity +NM_001350748.2:c.3030A>T NP_001337677.1:p.Gly1010= NC_000013.11:101103285:T:A p.(Gly1010=) NC_000013.11:101103285:T:A p.(Gly1010=) NC_000013.11:101103285:T:A Identity +NM_001080453.3:c.2178G>A NP_001073922.2:p.Pro726= NC_000007.14:1489669:C:T p.(Pro726=) NC_000007.14:1489669:C:T p.(Pro726=) NC_000007.14:1489669:C:T Identity +NM_001244008.2:c.2164AAGTGG[3] NP_001230937.1:p.722KW[3] NC_000002.12:240761318:CCACTTCCACTTCC:CCACTTCCACTTCCACTTCC p.(Lys724_Trp725dup) NC_000002.12:240761329:T:CCACTTCCACTTCCACTT ERR:Parse ERR:Parse Analogous +NM_001142548.2:c.352T>C NP_001136020.1:p.Leu118= NC_000001.11:46260043:T:C p.(Leu118=) NC_000001.11:46260043:T:C p.(Leu118=) NC_000001.11:46260043:T:C Identity +NM_000142.5:c.303C>T NP_000133.1:p.His101= NC_000004.12:1799446:C:T p.(His101=) NC_000004.12:1799446:C:T p.(His101=) NC_000004.12:1799446:C:T Identity +NM_000142.5:c.732C>T NP_000133.1:p.Asp244= NC_000004.12:1801735:C:T p.(Asp244=) NC_000004.12:1801735:C:T p.(Asp244=) NC_000004.12:1801735:C:T Identity +NM_000142.5:c.1620C>T NP_000133.1:p.Asn540= NC_000004.12:1805643:C:T p.(Asn540=) NC_000004.12:1805643:C:T p.(Asn540=) NC_000004.12:1805643:C:T Identity +NM_017633.3:c.1137C>T NP_060103.2:p.Asn379= NC_000006.12:81749886:G:A p.(Asn379=) NC_000006.12:81749886:G:A p.(Asn379=) NC_000006.12:81749886:G:A Identity +NM_002047.4:c.114G>T NP_002038.2:p.Ala38= NC_000007.14:30595034:G:T p.(Ala38=) NC_000007.14:30595034:G:T p.(Ala38=) NC_000007.14:30595034:G:T Identity +NM_004446.3:c.732A>G NP_004437.2:p.Glu244= NC_000001.11:220025149:T:C p.(Glu244=) NC_000001.11:220025149:T:C p.(Glu244=) NC_000001.11:220025149:T:C Identity +NM_001363260.1:c.174A>G NP_001350189.1:p.Lys58= NC_000008.11:95263755:T:C p.(Lys58=) NC_000008.11:95263755:T:C p.(Lys58=) NC_000008.11:95263755:T:C Identity +NM_003680.4:c.1002A>G NP_003671.1:p.Lys334= NC_000001.11:32782443:T:C p.(Lys334=) NC_000001.11:32782443:T:C p.(Lys334=) NC_000001.11:32782443:T:C Identity +NM_001143905.2:c.462A>T NP_001137377.1:p.Leu154= NC_000012.12:123256991:A:T p.(Leu154=) NC_000012.12:123256991:A:T p.(Leu154=) NC_000012.12:123256991:A:T Identity +NM_001605.3:c.2611C>T NP_001596.2:p.Leu871= NC_000016.10:70253377:G:A p.(Leu871=) NC_000016.10:70253377:G:A p.(Leu871=) NC_000016.10:70253377:G:A Identity +NM_001605.3:c.1437G>A NP_001596.2:p.Glu479= NC_000016.10:70265012:C:T p.(Glu479=) NC_000016.10:70265012:C:T p.(Glu479=) NC_000016.10:70265012:C:T Identity +NM_000151.4:c.9A>G NP_000142.2:p.Glu3= NC_000017.11:42900884:A:G p.(Glu3=) NC_000017.11:42900884:A:G p.(Glu3=) NC_000017.11:42900884:A:G Identity +NM_000151.4:c.381C>T NP_000142.2:p.Tyr127= NC_000017.11:42907562:C:T p.(Tyr127=) NC_000017.11:42907562:C:T p.(Tyr127=) NC_000017.11:42907562:C:T Identity +NM_001113491.2:c.828C>T NP_001106963.1:p.Phe276= NC_000017.11:77482249:C:T p.(Phe276=) NC_000017.11:77482249:C:T p.(Phe276=) NC_000017.11:77482249:C:T Identity +NM_001001935.3:c.1428C>T NP_001001935.1:p.Ile476= NC_000018.10:46084505:G:A p.(Ile476=) NC_000018.10:46084505:G:A p.(Ile476=) NC_000018.10:46084505:G:A Identity +NM_001302453.1:c.381C>T NP_001289382.1:p.Leu127= NC_000019.10:11426941:G:A p.(Leu127=) NC_000019.10:11426941:G:A p.(Leu127=) NC_000019.10:11426941:G:A Identity +NM_001001975.2:c.432A>G NP_001001975.1:p.Thr144= NC_000019.10:1244361:A:G p.(Thr144=) NC_000019.10:1244361:A:G p.(Thr144=) NC_000019.10:1244361:A:G Identity +NM_003047.5:c.2031G>A NP_003038.2:p.Glu677= NC_000001.11:27101730:C:T p.(Glu677=) NC_000001.11:27101730:C:T p.(Glu677=) NC_000001.11:27101730:C:T Identity +NM_006297.3:c.618A>G NP_006288.2:p.Pro206= NC_000019.10:43553074:T:C p.(Pro206=) NC_000019.10:43553074:T:C p.(Pro206=) NC_000019.10:43553074:T:C Identity +NM_001351059.2:c.1514_1516dup NP_001337988.1:p.Leu505dup NC_000011.10:68050655:GCTGC:GCTGCTGC p.(Leu505dup) NC_000011.10:68050655:GCTGC:GCTGCTGC p.(Leu505dup) ERR:SPDI Identity +NM_000390.4:c.368_390dup NP_000381.1:p.Thr131delinsLeuLeuTer NC_000023.11:85963976:GGAGTTTGCAGATGTCACAAGAG:GGAGTTTGCAGATGTCACAAGAGGGAGTTTGCAGATGTCACAAGAG p.(Thr131LeufsTer3) NC_000023.11:85963976:GGAGTTTGCAGATGTCACAAGAG:GGAGTTTGCAGATGTCACAAGAGGGAGTTTGCAGATGTCACAAGAG p.(Thr131LeufsTer3) ERR:SPDI Analogous +NM_001204425.2:c.4858A>C NP_001191354.2:p.Arg1620= NC_000013.11:102875837:A:C p.(Arg1620=) NC_000013.11:102875837:A:C p.(Arg1620=) NC_000013.11:102875837:A:C Identity +NM_000548.5:c.3300G>A NP_000539.2:p.Val1100= NC_000016.10:2079571:G:A p.(Val1100=) NC_000016.10:2079571:G:A p.(Val1100=) NC_000016.10:2079571:G:A Identity +NM_000551.4:c.592C>T NP_000542.1:p.Leu198= NC_000003.12:10149914:C:T p.(Leu198=) NC_000003.12:10149914:C:T p.(Leu198=) NC_000003.12:10149914:C:T Identity +NM_001048171.2:c.171T>C NP_001041636.2:p.His57= NC_000001.11:45333505:A:G p.(His57=) NC_000001.11:45333505:A:G p.(His57=) NC_000001.11:45333505:A:G Identity +NM_001276503.2:c.72A>G NP_001263432.1:p.Pro24= NC_000011.10:112087875:A:G p.(Pro24=) NC_000011.10:112087875:A:G p.(Pro24=) NC_000011.10:112087875:A:G Identity +NM_004304.5:c.1512G>A NP_004295.2:p.Arg504= NC_000002.12:29320784:C:T p.(Arg504=) NC_000002.12:29320784:C:T p.(Arg504=) NC_000002.12:29320784:C:T Identity +NM_001346897.2:c.207T>C NP_001333826.1:p.Tyr69= NC_000007.14:55142403:T:C p.(Tyr69=) NC_000007.14:55142403:T:C p.(Tyr69=) NC_000007.14:55142403:T:C Identity +NM_000775.4:c.148C>T NP_000766.2:p.Leu50= NC_000001.11:59926598:G:A p.(Leu50=) NC_000001.11:59926598:G:A p.(Leu50=) NC_000001.11:59926598:G:A Identity +NM_001972.4:c.327C>T NP_001963.1:p.Tyr109= NC_000019.10:853363:C:T p.(Tyr109=) NC_000019.10:853363:C:T p.(Tyr109=) NC_000019.10:853363:C:T Identity +NM_001199138.2:c.459C>G NP_001186067.1:p.Thr153= NC_000002.12:32251404:G:C p.(Thr153=) NC_000002.12:32251404:G:C p.(Thr153=) NC_000002.12:32251404:G:C Identity +NM_002016.2:c.2540del NP_002007.1:p.Gly846_Ser847insTer NC_000001.11:152312345:G: p.(Ser847Ter) NC_000001.11:152312345:G: p.(Ser847Ter) NC_000001.11:152312345:G: Analogous +NM_001355006.2:c.885A>G NP_001341935.1:p.Ter295= NC_000005.10:171410564:A:G p.(Ter295=) NC_000005.10:171410564:A:G p.(Ter295Ter) NC_000005.10:171410564:A:G Identity +NM_001365276.2:c.5757C>T NP_001352205.1:p.Asp1919= NC_000006.12:32068966:G:A p.(Asp1919=) NC_000006.12:32068966:G:A p.(Asp1919=) NC_000006.12:32068966:G:A Identity +NM_001199397.3:c.1335T>C NP_001186326.1:p.His445= NC_000004.12:169556026:A:G p.(His445=) NC_000004.12:169556026:A:G p.(His445=) NC_000004.12:169556026:A:G Identity +NM_005886.3:c.1314G>T NP_005877.2:p.Arg438= NC_000016.10:57755135:G:T p.(Arg438=) NC_000016.10:57755135:G:T p.(Arg438=) NC_000016.10:57755135:G:T Identity +NM_021133.4:c.1222C>T NP_066956.1:p.Leu408= NC_000001.11:182585584:G:A p.(Leu408=) NC_000001.11:182585584:G:A p.(Leu408=) NC_000001.11:182585584:G:A Identity +NM_006015.6:c.945C>T NP_006006.3:p.Asp315= NC_000001.11:26697347:C:T p.(Asp315=) NC_000001.11:26697347:C:T p.(Asp315=) NC_000001.11:26697347:C:T Identity +NM_001331026.2:c.696del NP_001317955.1:p.Leu231_Tyr232insTer NC_000005.10:43644315:C: p.(Tyr232Ter) NC_000005.10:43644315:C: p.(Tyr232Ter) NC_000005.10:43644315:C: Analogous +NM_000492.4:c.4443G>C NP_000483.3:p.Ter1481Tyr NC_000007.14:117667107:G:C p.(Ter1481TyrextTer4) NC_000007.14:117667107:G:C p.(Ter1481TyrextTer4) NC_000007.14:117667107:G:C Analogous +NM_000214.3:c.789_791del NP_000205.1:p.Asp263_Lys264delinsGlu NC_000020.11:10652562:TTAT:T p.(Asp263_Lys264delinsGlu) NC_000020.11:10652562:TTAT:T p.(Asp263_Lys264delinsGlu) NC_000020.11:10652562:TTA: Identity +NM_000092.5:c.3309A>C NP_000083.3:p.Gly1103= NC_000002.12:227043164:T:G p.(Gly1103=) NC_000002.12:227043164:T:G p.(Gly1103=) NC_000002.12:227043164:T:G Identity +NM_000032.5:c.912C>T NP_000023.2:p.His304= NC_000023.11:55017576:G:A p.(His304=) NC_000023.11:55017576:G:A p.(His304=) NC_000023.11:55017576:G:A Identity +NM_001080517.3:c.1441_1442insCTTG NP_001073986.1:p.Glu481delinsAlaTer NC_000003.12:9445656:G:GCTTG p.(Glu481AlafsTer2) NC_000003.12:9445656:G:CTTG p.(Glu481AlafsTer2) NC_000003.12:9445657:GA:CTTG Analogous +NM_005121.3:c.1345CAA[1] NP_005112.2:p.Gln450_Gln451del NC_000017.11:62011163:TTGTTGTTG:TTG p.(Gln450_Gln451del) NC_000017.11:62011171:G:TTG ERR:Parse ERR:Parse Identity +NM_001354609.2:c.1338G>T NP_001341538.1:p.Ser446= NC_000007.14:140781669:C:A p.(Ser446=) NC_000007.14:140781669:C:A p.(Ser446=) NC_000007.14:140781669:C:A Identity +NM_001286771.3:c.1302_1319del NP_001273700.1:p.Glu435_Leu440del NC_000004.12:73147341:AGAAAGTCTGCCACTTCCAGAAAG:AGAAAG p.(Glu435_Leu440del) NC_000004.12:73147341:AGAAAGTCTGCCACTTCCAGAAAG:AGAAAG p.(Glu435_Leu440del) NC_000004.12:73147341:AGAAAGTCTGCCACTTCC: Identity +NM_001031714.4:c.1812A>T NP_001026884.3:p.Arg604= NC_000014.9:104708511:A:T p.(Arg604=) NC_000014.9:104708511:A:T p.(Arg604=) NC_000014.9:104708511:A:T Identity +NM_001347721.2:c.1230A>G NP_001334650.1:p.Gly410= NC_000021.9:37505299:A:G p.(Gly410=) NC_000021.9:37505299:A:G p.(Gly410=) NC_000021.9:37505299:A:G Identity +NM_001164507.2:c.2560_2561insTGAAATATTGATACAC NP_001157979.2:p.Lys854delinsMetLysTyrTer NC_000002.12:151687495::GTGTATCAATATTTCA p.(Lys854MetfsTer4) NC_000002.12:151687494:T:GTGTATCAATATTTCA p.(Lys854MetfsTer4) NC_000002.12:151687495:TT:GTGTATCAATATTTCA Analogous +NM_006218.4:c.1128A>G NP_006209.2:p.Val376= NC_000003.12:179204570:A:G p.(Val376=) NC_000003.12:179204570:A:G p.(Val376=) NC_000003.12:179204570:A:G Identity +NM_053046.4:c.30A>G NP_444274.1:p.Leu10= NC_000019.10:40800601:A:G p.(Leu10=) NC_000019.10:40800601:A:G p.(Leu10=) NC_000019.10:40800601:A:G Identity +NM_001363813.1:c.30C>T NP_001350742.1:p.Leu10= NC_000017.11:65558590:G:A p.(Leu10=) NC_000017.11:65558590:G:A p.(Leu10=) NC_000017.11:65558590:G:A Identity +NM_001081640.2:c.3102A>G NP_001075109.1:p.Arg1034= NC_000008.11:47902735:T:C p.(Arg1034=) NC_000008.11:47902735:T:C p.(Arg1034=) NC_000008.11:47902735:T:C Identity +NM_001193376.3:c.2919C>A NP_001180305.1:p.Ile973= NC_000005.10:1255335:G:T p.(Ile973=) NC_000005.10:1255335:G:T p.(Ile973=) NC_000005.10:1255335:G:T Identity +NM_001365951.3:c.3252T>C NP_001352880.1:p.Asn1084= NC_000001.11:10337195:T:C p.(Asn1084=) NC_000001.11:10337195:T:C p.(Asn1084=) NC_000001.11:10337195:T:C Identity +NM_001256849.1:c.3117G>A NP_001243778.1:p.Lys1039= NC_000019.10:50417093:G:A p.(Lys1039=) NC_000019.10:50417093:G:A p.(Lys1039=) NC_000019.10:50417093:G:A Identity +NM_000051.4:c.3126_3137del NP_000042.3:p.Val1043_Leu1046del NC_000011.10:108272576:CCTAGTAAATTGCCT:CCT p.(Val1043_Leu1046del) NC_000011.10:108272576:CCTAGTAAATTGCCT:CCT p.(Val1043_Leu1046del) NC_000011.10:108272579:AGTAAATTGCCT: Identity +NM_001040108.2:c.3129T>C NP_001035197.1:p.Asp1043= NC_000014.9:75046526:A:G p.(Asp1043=) NC_000014.9:75046526:A:G p.(Asp1043=) NC_000014.9:75046526:A:G Identity +NM_001321307.1:c.3159C>T NP_001308236.1:p.Pro1053= NC_000011.10:108161947:G:A p.(Pro1053=) NC_000011.10:108161947:G:A p.(Pro1053=) NC_000011.10:108161947:G:A Identity +NM_001318193.2:c.291A>G NP_001305122.2:p.Lys97= NC_000016.10:2046190:T:C p.(Lys97=) NC_000016.10:2046190:T:C p.(Lys97=) NC_000016.10:2046190:T:C Identity +NM_001232.4:c.1131_1139del NP_001223.2:p.Glu377_Asp379del NC_000001.11:115701301:TCATCATCTTCATCATC:TCATCATC p.(Glu377_Asp379del) NC_000001.11:115701301:TCATCATCTTCATCATC:TCATCATC p.(Glu377_Asp379del) NC_000001.11:115701301:TCATCATCT: Identity +NM_001166108.2:c.3216C>T NP_001159580.1:p.Asp1072= NC_000004.12:168924411:C:T p.(Asp1072=) NC_000004.12:168924411:C:T p.(Asp1072=) NC_000004.12:168924411:C:T Identity +NM_001129841.2:c.3174T>C NP_001123313.1:p.Cys1058= NC_000012.12:2606627:T:C p.(Cys1058=) NC_000012.12:2606627:T:C p.(Cys1058=) NC_000012.12:2606627:T:C Identity +NM_000057.4:c.318A>T NP_000048.1:p.Ser106= NC_000015.10:90749585:A:T p.(Ser106=) NC_000015.10:90749585:A:T p.(Ser106=) NC_000015.10:90749585:A:T Identity +NM_001407296.1:c.258C>A NP_001394225.1:p.Ser86= NC_000016.10:23636227:G:T p.(Ser86=) NC_000016.10:23636227:G:T p.(Ser86=) NC_000016.10:23636227:G:T Identity +NM_001130144.3:c.3192C>T NP_001123616.1:p.Pro1064= NC_000011.10:65540296:G:A p.(Pro1064=) NC_000011.10:65540296:G:A p.(Pro1064=) NC_000011.10:65540296:G:A Identity +NM_001278616.2:c.3150T>G NP_001265545.1:p.Arg1050= NC_000002.12:110638011:A:C p.(Arg1050=) NC_000002.12:110638011:A:C p.(Arg1050=) NC_000002.12:110638011:A:C Identity +NM_002439.5:c.3216G>A NP_002430.3:p.Val1072= NC_000005.10:80873200:G:A p.(Val1072=) NC_000005.10:80873200:G:A p.(Val1072=) NC_000005.10:80873200:G:A Identity +NM_001040113.2:c.3240C>T NP_001035202.1:p.Asp1080= NC_000016.10:15737522:G:A p.(Asp1080=) NC_000016.10:15737522:G:A p.(Asp1080=) NC_000016.10:15737522:G:A Identity +NM_001278616.2:c.261G>T NP_001265545.1:p.Gly87= NC_000002.12:110672761:C:A p.(Gly87=) NC_000002.12:110672761:C:A p.(Gly87=) NC_000002.12:110672761:C:A Identity +NM_052947.4:c.3223A>C NP_443179.3:p.Arg1075= NC_000018.10:58536963:T:G p.(Arg1075=) NC_000018.10:58536963:T:G p.(Arg1075=) NC_000018.10:58536963:T:G Identity +NM_001256850.1:c.54594T>C NP_001243779.1:p.Gly18198= NC_000002.12:178592487:A:G p.(Gly18198=) NC_000002.12:178592487:A:G p.(Gly18198=) NC_000002.12:178592487:A:G Identity +NM_000038.6:c.3246T>C NP_000029.2:p.Thr1082= NC_000005.10:112838839:T:C p.(Thr1082=) NC_000005.10:112838839:T:C p.(Thr1082=) NC_000005.10:112838839:T:C Identity +NM_004064.5:c.324T>C NP_004055.1:p.Asp108= NC_000012.12:12718162:T:C p.(Asp108=) NC_000012.12:12718162:T:C p.(Asp108=) NC_000012.12:12718162:T:C Identity +NM_001256850.1:c.54796_54797insATT NP_001243779.1:p.Gly18265_Ser18266insTyr NC_000002.12:178592184:AA:AATAA p.(Gly18265_Ser18266insTyr) NC_000002.12:178592183:G:AAT p.(Gly18265_Ser18266insTyr) NC_000002.12:178592184:GA:AAT Identity +NM_001166108.2:c.3333C>T NP_001159580.1:p.Ser1111= NC_000004.12:168925052:C:T p.(Ser1111=) NC_000004.12:168925052:C:T p.(Ser1111=) NC_000004.12:168925052:C:T Identity +NM_001193376.3:c.3102G>A NP_001180305.1:p.Arg1034= NC_000005.10:1254371:C:T p.(Arg1034=) NC_000005.10:1254371:C:T p.(Arg1034=) NC_000005.10:1254371:C:T Identity +NM_001321307.1:c.3318C>T NP_001308236.1:p.Asp1106= NC_000011.10:108161788:G:A p.(Asp1106=) NC_000011.10:108161788:G:A p.(Asp1106=) NC_000011.10:108161788:G:A Identity +NM_001130144.3:c.3303G>A NP_001123616.1:p.Pro1101= NC_000011.10:65540094:C:T p.(Pro1101=) NC_000011.10:65540094:C:T p.(Pro1101=) NC_000011.10:65540094:C:T Identity +NM_001943.5:c.3306A>T NP_001934.2:p.Thr1102= NC_000018.10:31546691:A:T p.(Thr1102=) NC_000018.10:31546691:A:T p.(Thr1102=) NC_000018.10:31546691:A:T Identity +NM_001365276.2:c.3318G>A NP_001352205.1:p.Val1106= NC_000006.12:32084539:C:T p.(Val1106=) NC_000006.12:32084539:C:T p.(Val1106=) NC_000006.12:32084539:C:T Identity +NM_003079.5:c.333A>G NP_003070.3:p.Glu111= NC_000017.11:40636430:T:C p.(Glu111=) NC_000017.11:40636430:T:C p.(Glu111=) NC_000017.11:40636430:T:C Identity +NM_017841.4:c.333G>A NP_060311.1:p.Glu111= NC_000011.10:61438075:G:A p.(Glu111=) NC_000011.10:61438075:G:A p.(Glu111=) NC_000011.10:61438075:G:A Identity +NM_000179.3:c.3345A>T NP_000170.1:p.Ile1115= NC_000002.12:47803591:A:T p.(Ile1115=) NC_000002.12:47803591:A:T p.(Ile1115=) NC_000002.12:47803591:A:T Identity +NM_001353765.2:c.141C>T NP_001340694.1:p.Asn47= NC_000002.12:29223355:G:A p.(Asn47=) NC_000002.12:29223355:G:A p.(Asn47=) NC_000002.12:29223355:G:A Identity +NM_052947.4:c.3357T>C NP_443179.3:p.Phe1119= NC_000018.10:58536829:A:G p.(Phe1119=) NC_000018.10:58536829:A:G p.(Phe1119=) NC_000018.10:58536829:A:G Identity +NM_001178133.2:c.336A>T NP_001171604.1:p.Gly112= NC_000010.11:102549987:A:T p.(Gly112=) NC_000010.11:102549987:A:T p.(Gly112=) NC_000010.11:102549987:A:T Identity +NM_005502.4:c.336T>C NP_005493.2:p.Leu112= NC_000009.12:104883123:A:G p.(Leu112=) NC_000009.12:104883123:A:G p.(Leu112=) NC_000009.12:104883123:A:G Identity +NM_000455.5:c.337C>T NP_000446.1:p.Leu113= NC_000019.10:1218462:C:T p.(Leu113=) NC_000019.10:1218462:C:T p.(Leu113=) NC_000019.10:1218462:C:T Identity +NM_001127487.2:c.3393C>T NP_001120959.1:p.Ile1131= NC_000007.14:128844857:C:T p.(Ile1131=) NC_000007.14:128844857:C:T p.(Ile1131=) NC_000007.14:128844857:C:T Identity +NM_001081640.2:c.33C>T NP_001075109.1:p.Ser11= NC_000008.11:47960093:G:A p.(Ser11=) NC_000008.11:47960093:G:A p.(Ser11=) NC_000008.11:47960093:G:A Identity +NM_199420.4:c.1140A>C NP_955452.3:p.Val380= NC_000003.12:121522117:T:G p.(Val380=) NC_000003.12:121522117:T:G p.(Val380=) NC_000003.12:121522117:T:G Identity +NM_017841.4:c.33G>T NP_060311.1:p.Ser11= NC_000011.10:61430178:G:T p.(Ser11=) NC_000011.10:61430178:G:T p.(Ser11=) NC_000011.10:61430178:G:T Identity +NM_001195227.2:c.1140C>T NP_001182156.1:p.Ala380= NC_000019.10:49172097:C:T p.(Ala380=) NC_000019.10:49172097:C:T p.(Ala380=) NC_000019.10:49172097:C:T Identity +LRG_487t1:c.1140C>T LRG_487p1:p.Leu380= NC_000016.10:2061890:C:T ERR:Data provider error: ValueError: Transcript LRG_487t1 not found ERR:Data provider error: ValueError: Transcript LRG_487t1 not found ERR:AlignmentMapper(tx_ac=LRG_487t1, alt_ac=LRG_487t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_487t1, alt_ac=LRG_487t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_487t1 not found +NM_000090.4:c.3411C>G NP_000081.2:p.Gly1137= NC_000002.12:189007931:C:G p.(Gly1137=) NC_000002.12:189007931:C:G p.(Gly1137=) NC_000002.12:189007931:C:G Identity +NM_001377273.1:c.3414T>C NP_001364202.1:p.Ala1138= NC_000012.12:21842372:A:G p.(Ala1138=) NC_000012.12:21842372:A:G p.(Ala1138=) NC_000012.12:21842372:A:G Identity +NM_001430.5:c.1140G>T NP_001421.2:p.Gly380= NC_000002.12:46376643:G:T p.(Gly380=) NC_000002.12:46376643:G:T p.(Gly380=) NC_000002.12:46376643:G:T Identity +NM_000335.5:c.3413GCA[3] NP_000326.2:p.Ser1139_Thr1140insSer NC_000003.12:38576750:TGCTGC:TGCTGCTGC p.(Ser1139dup) NC_000003.12:38576755:C:TGCTGCTGC ERR:Parse ERR:Parse Analogous +NM_016938.5:c.1140T>A NP_058634.4:p.Ala380= NC_000011.10:65867890:A:T p.(Ala380=) NC_000011.10:65867890:A:T p.(Ala380=) NC_000011.10:65867890:A:T Identity +NM_001407361.1:c.342C>G NP_001394290.1:p.Thr114= NC_000001.11:17028680:G:C p.(Thr114=) NC_000001.11:17028680:G:C p.(Thr114=) NC_000001.11:17028680:G:C Identity +NM_001352019.2:c.15C>T NP_001338948.1:p.Leu5= NC_000016.10:954517:G:A p.(Leu5=) NC_000016.10:954517:G:A p.(Leu5=) NC_000016.10:954517:G:A Identity +NM_000057.4:c.3432A>G NP_000048.1:p.Arg1144= NC_000015.10:90803593:A:G p.(Arg1144=) NC_000015.10:90803593:A:G p.(Arg1144=) NC_000015.10:90803593:A:G Identity +NM_052947.4:c.3435G>A NP_443179.3:p.Gln1145= NC_000018.10:58536751:C:T p.(Gln1145=) NC_000018.10:58536751:C:T p.(Gln1145=) NC_000018.10:58536751:C:T Identity +NM_024529.5:c.1141C>T NP_078805.3:p.Leu381= NC_000001.11:193212463:C:T p.(Leu381=) NC_000001.11:193212463:C:T p.(Leu381=) NC_000001.11:193212463:C:T Identity +NM_052947.4:c.3459C>T NP_443179.3:p.Phe1153= NC_000018.10:58536727:G:A p.(Phe1153=) NC_000018.10:58536727:G:A p.(Phe1153=) NC_000018.10:58536727:G:A Identity +NM_001211.6:c.345T>C NP_001202.5:p.Tyr115= NC_000015.10:40170641:T:C p.(Tyr115=) NC_000015.10:40170641:T:C p.(Tyr115=) NC_000015.10:40170641:T:C Identity +NM_001365276.2:c.3477A>G NP_001352205.1:p.Pro1159= NC_000006.12:32082294:T:C p.(Pro1159=) NC_000006.12:32082294:T:C p.(Pro1159=) NC_000006.12:32082294:T:C Identity +NM_000548.5:c.3483A>G NP_000539.2:p.Ala1161= NC_000016.10:2080249:A:G p.(Ala1161=) NC_000016.10:2080249:A:G p.(Ala1161=) NC_000016.10:2080249:A:G Identity +NM_003036.4:c.348A>C NP_003027.1:p.Gly116= NC_000001.11:2229113:A:C p.(Gly116=) NC_000001.11:2229113:A:C p.(Gly116=) NC_000001.11:2229113:A:C Identity +NM_001007468.3:c.321C>A NP_001007469.1:p.Pro107= NC_000022.11:23793673:C:A p.(Pro107=) NC_000022.11:23793673:C:A p.(Pro107=) NC_000022.11:23793673:C:A Identity +NM_001290307.3:c.348C>T NP_001277236.1:p.Cys116= NC_000005.10:138810083:C:T p.(Cys116=) NC_000005.10:138810083:C:T p.(Cys116=) NC_000005.10:138810083:C:T Identity +NM_005502.4:c.3504C>G NP_005493.2:p.Gly1168= NC_000009.12:104817362:G:C p.(Gly1168=) NC_000009.12:104817362:G:C p.(Gly1168=) NC_000009.12:104817362:G:C Identity +NM_000057.4:c.3507T>G NP_000048.1:p.Ala1169= NC_000015.10:90803668:T:G p.(Ala1169=) NC_000015.10:90803668:T:G p.(Ala1169=) NC_000015.10:90803668:T:G Identity +NM_000051.4:c.3522T>C NP_000042.3:p.Phe1174= NC_000011.10:108281113:T:C p.(Phe1174=) NC_000011.10:108281113:T:C p.(Phe1174=) NC_000011.10:108281113:T:C Identity +NM_000051.4:c.3528G>A NP_000042.3:p.Leu1176= NC_000011.10:108281119:G:A p.(Leu1176=) NC_000011.10:108281119:G:A p.(Leu1176=) NC_000011.10:108281119:G:A Identity +NM_000088.4:c.3540C>T NP_000079.2:p.Pro1180= NC_000017.11:50186913:G:A p.(Pro1180=) NC_000017.11:50186913:G:A p.(Pro1180=) NC_000017.11:50186913:G:A Identity +NM_001195573.1:c.3540del NP_001182502.1:p.Ser1179_Tyr1180insTer NC_000014.9:95103855:G: p.(Tyr1180Ter) NC_000014.9:95103855:G: p.(Tyr1180Ter) NC_000014.9:95103855:G: Analogous +NM_001293306.2:c.1146C>T NP_001280235.2:p.Phe382= NC_000003.12:38756817:G:A p.(Phe382=) NC_000003.12:38756817:G:A p.(Phe382=) NC_000003.12:38756817:G:A Identity +NM_001363813.1:c.354G>A NP_001350742.1:p.Arg118= NC_000017.11:65558266:C:T p.(Arg118=) NC_000017.11:65558266:C:T p.(Arg118=) NC_000017.11:65558266:C:T Identity +NM_000038.6:c.3567A>C NP_000029.2:p.Ser1189= NC_000005.10:112839160:A:C p.(Ser1189=) NC_000005.10:112839160:A:C p.(Ser1189=) NC_000005.10:112839160:A:C Identity +NM_001098623.2:c.11472G>A NP_001092093.2:p.Glu3824= NC_000001.11:228294855:G:A p.(Glu3824=) NC_000001.11:228294855:G:A p.(Glu3824=) NC_000001.11:228294855:G:A Identity +NM_002769.5:c.357C>A NP_002760.1:p.Ile119= NC_000007.14:142751929:C:A p.(Ile119=) NC_000007.14:142751929:C:A p.(Ile119=) NC_000007.14:142751929:C:A Identity +NM_002471.4:c.3580C>T NP_002462.2:p.Leu1194= NC_000014.9:23390208:G:A p.(Leu1194=) NC_000014.9:23390208:G:A p.(Leu1194=) NC_000014.9:23390208:G:A Identity +NM_000059.4:c.3585G>A NP_000050.3:p.Leu1195= NC_000013.11:32337939:G:A p.(Leu1195=) NC_000013.11:32337939:G:A p.(Leu1195=) NC_000013.11:32337939:G:A Identity +NM_001382394.1:c.3567T>C NP_001369323.1:p.Tyr1189= NC_000002.12:38986237:A:G p.(Tyr1189=) NC_000002.12:38986237:A:G p.(Tyr1189=) NC_000002.12:38986237:A:G Identity +NM_001256850.1:c.58314T>C NP_001243779.1:p.His19438= NC_000002.12:178588169:A:G p.(His19438=) NC_000002.12:178588169:A:G p.(His19438=) NC_000002.12:178588169:A:G Identity +NM_001377260.1:c.360A>T NP_001364189.1:p.Pro120= NC_000001.11:231421528:T:A p.(Pro120=) NC_000001.11:231421528:T:A p.(Pro120=) NC_000001.11:231421528:T:A Identity +NM_001271.4:c.3613A>C NP_001262.3:p.Arg1205= NC_000015.10:92996973:A:C p.(Arg1205=) NC_000015.10:92996973:A:C p.(Arg1205=) NC_000015.10:92996973:A:C Identity +NM_199420.4:c.3624C>T NP_955452.3:p.Thr1208= NC_000003.12:121489306:G:A p.(Thr1208=) NC_000003.12:121489306:G:A p.(Thr1208=) NC_000003.12:121489306:G:A Identity +NM_000089.4:c.3642G>A NP_000080.2:p.Lys1214= NC_000007.14:94428407:G:A p.(Lys1214=) NC_000007.14:94428407:G:A p.(Lys1214=) NC_000007.14:94428407:G:A Identity +NM_001040108.2:c.3657C>G NP_001035197.1:p.Leu1219= NC_000014.9:75033476:G:C p.(Leu1219=) NC_000014.9:75033476:G:C p.(Leu1219=) NC_000014.9:75033476:G:C Identity +NM_001040108.2:c.3666G>T NP_001035197.1:p.Val1222= NC_000014.9:75033467:C:A p.(Val1222=) NC_000014.9:75033467:C:A p.(Val1222=) NC_000014.9:75033467:C:A Identity +NM_053046.4:c.366C>A NP_444274.1:p.Ala122= NC_000019.10:40800937:C:A p.(Ala122=) NC_000019.10:40800937:C:A p.(Ala122=) NC_000019.10:40800937:C:A Identity +NM_003924.4:c.366C>T NP_003915.2:p.Tyr122= NC_000004.12:41747411:G:A p.(Tyr122=) NC_000004.12:41747411:G:A p.(Tyr122=) NC_000004.12:41747411:G:A Identity +NM_001166108.2:c.366T>C NP_001159580.1:p.Pro122= NC_000004.12:168511869:T:C p.(Pro122=) NC_000004.12:168511869:T:C p.(Pro122=) NC_000004.12:168511869:T:C Identity +NM_199420.4:c.366T>G NP_955452.3:p.Thr122= NC_000003.12:121541456:A:C p.(Thr122=) NC_000003.12:121541456:A:C p.(Thr122=) NC_000003.12:121541456:A:C Identity +NM_005502.4:c.3687C>T NP_005493.2:p.Leu1229= NC_000009.12:104816193:G:A p.(Leu1229=) NC_000009.12:104816193:G:A p.(Leu1229=) NC_000009.12:104816193:G:A Identity +NM_005502.4:c.3694C>T NP_005493.2:p.Leu1232= NC_000009.12:104816186:G:A p.(Leu1232=) NC_000009.12:104816186:G:A p.(Leu1232=) NC_000009.12:104816186:G:A Identity +NM_000903.3:c.369A>G NP_000894.1:p.Gly123= NC_000016.10:69715011:T:C p.(Gly123=) NC_000016.10:69715011:T:C p.(Gly123=) NC_000016.10:69715011:T:C Identity +NM_000264.5:c.369C>G NP_000255.2:p.Thr123= NC_000009.12:95506431:G:C p.(Thr123=) NC_000009.12:95506431:G:C p.(Thr123=) NC_000009.12:95506431:G:C Identity +NM_000229.2:c.369C>T NP_000220.1:p.Arg123= NC_000016.10:67942918:G:A p.(Arg123=) NC_000016.10:67942918:G:A p.(Arg123=) NC_000016.10:67942918:G:A Identity +NM_001010874.5:c.369T>C NP_001010874.2:p.Ser123= NC_000004.12:64322754:A:G p.(Ser123=) NC_000004.12:64322754:A:G p.(Ser123=) NC_000004.12:64322754:A:G Identity +NM_001007793.3:c.36A>G NP_001007794.1:p.Pro12= NC_000010.11:123154952:A:G p.(Pro12=) NC_000010.11:123154952:A:G p.(Pro12=) NC_000010.11:123154952:A:G Identity +NM_001014431.2:c.36G>A NP_001014431.1:p.Leu12= NC_000014.9:104792607:C:T p.(Leu12=) NC_000014.9:104792607:C:T p.(Leu12=) NC_000014.9:104792607:C:T Identity +NM_003924.4:c.36T>C NP_003915.2:p.Ser12= NC_000004.12:41748574:A:G p.(Ser12=) NC_000004.12:41748574:A:G p.(Ser12=) NC_000004.12:41748574:A:G Identity +NM_001321307.1:c.3732C>T NP_001308236.1:p.Ser1244= NC_000011.10:108161374:G:A p.(Ser1244=) NC_000011.10:108161374:G:A p.(Ser1244=) NC_000011.10:108161374:G:A Identity +NM_006766.5:c.3717T>A NP_006757.2:p.Gly1239= NC_000008.11:41934502:A:T p.(Gly1239=) NC_000008.11:41934502:A:T p.(Gly1239=) NC_000008.11:41934502:A:T Identity +NM_001083604.3:c.3273G>A NP_001077073.1:p.Glu1091= NC_000009.12:95449146:C:T p.(Glu1091=) NC_000009.12:95449146:C:T p.(Glu1091=) NC_000009.12:95449146:C:T Identity +NM_000264.5:c.3729C>G NP_000255.2:p.Ala1243= NC_000009.12:95449143:G:C p.(Ala1243=) NC_000009.12:95449143:G:C p.(Ala1243=) NC_000009.12:95449143:G:C Identity +NM_000368.5:c.372T>A NP_000359.1:p.Thr124= NC_000009.12:132923483:A:T p.(Thr124=) NC_000009.12:132923483:A:T p.(Thr124=) NC_000009.12:132923483:A:T Identity +NM_005732.4:c.372T>G NP_005723.2:p.Gly124= NC_000005.10:132579322:T:G p.(Gly124=) NC_000005.10:132579322:T:G p.(Gly124=) NC_000005.10:132579322:T:G Identity +NM_198578.4:c.3735T>C NP_940980.4:p.Ser1245= NC_000012.12:40304091:T:C p.(Ser1245=) NC_000012.12:40304091:T:C p.(Ser1245=) NC_000012.12:40304091:T:C Identity +NM_000492.4:c.3738T>C NP_000483.3:p.Thr1246= NC_000007.14:117642457:T:C p.(Thr1246=) NC_000007.14:117642457:T:C p.(Thr1246=) NC_000007.14:117642457:T:C Identity +NM_001256267.2:c.3756C>G NP_001243196.1:p.Ala1252= NC_000010.11:68206865:C:G p.(Ala1252=) NC_000010.11:68206865:C:G p.(Ala1252=) NC_000010.11:68206865:C:G Identity +NM_001377260.1:c.375G>A NP_001364189.1:p.Ser125= NC_000001.11:231421513:C:T p.(Ser125=) NC_000001.11:231421513:C:T p.(Ser125=) NC_000001.11:231421513:C:T Identity +NM_001378969.1:c.375G>T NP_001365898.1:p.Pro125= NC_000001.11:111982351:C:A p.(Pro125=) NC_000001.11:111982351:C:A p.(Pro125=) NC_000001.11:111982351:C:A Identity +NM_001040108.2:c.3762A>G NP_001035197.1:p.Leu1254= NC_000014.9:75032132:T:C p.(Leu1254=) NC_000014.9:75032132:T:C p.(Leu1254=) NC_000014.9:75032132:T:C Identity +NM_001293306.2:c.3772C>A NP_001280235.2:p.Arg1258= NC_000003.12:38713986:G:T p.(Arg1258=) NC_000003.12:38713986:G:T p.(Arg1258=) NC_000003.12:38713986:G:T Identity +NM_000245.4:c.3735G>T NP_000236.2:p.Leu1245= NC_000007.14:116783405:G:T p.(Leu1245=) NC_000007.14:116783405:G:T p.(Leu1245=) NC_000007.14:116783405:G:T Identity +NM_001256850.1:c.60282T>C NP_001243779.1:p.Tyr20094= NC_000002.12:178584345:A:G p.(Tyr20094=) NC_000002.12:178584345:A:G p.(Tyr20094=) NC_000002.12:178584345:A:G Identity +NM_001195573.1:c.1155C>A NP_001182502.1:p.Arg385= NC_000014.9:95124416:G:T p.(Arg385=) NC_000014.9:95124416:G:T p.(Arg385=) NC_000014.9:95124416:G:T Identity +NM_001040108.2:c.3804A>G NP_001035197.1:p.Thr1268= NC_000014.9:75032090:T:C p.(Thr1268=) NC_000014.9:75032090:T:C p.(Thr1268=) NC_000014.9:75032090:T:C Identity +NM_001032283.3:c.381C>T NP_001027454.1:p.Tyr127= NC_000012.12:98527986:C:T p.(Tyr127=) NC_000012.12:98527986:C:T p.(Tyr127=) NC_000012.12:98527986:C:T Identity +NM_001130144.3:c.3825C>T NP_001123616.1:p.Asn1275= NC_000011.10:65539166:G:A p.(Asn1275=) NC_000011.10:65539166:G:A p.(Asn1275=) NC_000011.10:65539166:G:A Identity +NM_000057.4:c.3844T>C NP_000048.1:p.Leu1282= NC_000015.10:90809228:T:C p.(Leu1282=) NC_000015.10:90809228:T:C p.(Leu1282=) NC_000015.10:90809228:T:C Identity +NM_001130144.3:c.3849C>T NP_001123616.1:p.Val1283= NC_000011.10:65539142:G:A p.(Val1283=) NC_000011.10:65539142:G:A p.(Val1283=) NC_000011.10:65539142:G:A Identity +NM_001007793.3:c.384T>C NP_001007794.1:p.Pro128= NC_000010.11:123157846:T:C p.(Pro128=) NC_000010.11:123157846:T:C p.(Pro128=) NC_000010.11:123157846:T:C Identity +NM_001195573.1:c.387A>G NP_001182502.1:p.Val129= NC_000014.9:95131559:T:C p.(Val129=) NC_000014.9:95131559:T:C p.(Val129=) NC_000014.9:95131559:T:C Identity +NM_000321.3:c.387T>C NP_000312.2:p.His129= NC_000013.11:48345085:T:C p.(His129=) NC_000013.11:48345085:T:C p.(His129=) NC_000013.11:48345085:T:C Identity +NM_000245.4:c.3834A>G NP_000236.2:p.Thr1278= NC_000007.14:116795689:A:G p.(Thr1278=) NC_000007.14:116795689:A:G p.(Thr1278=) NC_000007.14:116795689:A:G Identity +NM_052947.4:c.3888G>A NP_443179.3:p.Leu1296= NC_000018.10:58536298:C:T p.(Leu1296=) NC_000018.10:58536298:C:T p.(Leu1296=) NC_000018.10:58536298:C:T Identity +NM_000059.4:c.3906T>C NP_000050.3:p.Thr1302= NC_000013.11:32338260:T:C p.(Thr1302=) NC_000013.11:32338260:T:C p.(Thr1302=) NC_000013.11:32338260:T:C Identity +NM_153252.5:c.3936A>G NP_694984.5:p.Leu1312= NC_000023.11:80686931:T:C p.(Leu1312=) NC_000023.11:80686931:T:C p.(Leu1312=) NC_000023.11:80686931:T:C Identity +NM_000722.4:c.393C>T NP_000713.2:p.Leu131= NC_000007.14:82136637:G:A p.(Leu131=) NC_000007.14:82136637:G:A p.(Leu131=) NC_000007.14:82136637:G:A Identity +NM_198578.4:c.3951C>T NP_940980.4:p.Asp1317= NC_000012.12:40305957:C:T p.(Asp1317=) NC_000012.12:40305957:C:T p.(Asp1317=) NC_000012.12:40305957:C:T Identity +NM_000245.4:c.3897G>A NP_000236.2:p.Gly1299= NC_000007.14:116795752:G:A p.(Gly1299=) NC_000007.14:116795752:G:A p.(Gly1299=) NC_000007.14:116795752:G:A Identity +NM_001353765.2:c.753A>G NP_001340694.1:p.Leu251= NC_000002.12:29197657:T:C p.(Leu251=) NC_000002.12:29197657:T:C p.(Leu251=) NC_000002.12:29197657:T:C Identity +NM_001040108.2:c.3972C>A NP_001035197.1:p.Thr1324= NC_000014.9:75030557:G:T p.(Thr1324=) NC_000014.9:75030557:G:T p.(Thr1324=) NC_000014.9:75030557:G:T Identity +NM_000179.2:c.3971_3973AGA[3] NP_000170.1:p.Lys1325_Met1326insLys NC_000002.12:47806620:AGAAGA:AGAAGAAGA ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000179.2 not found +NM_001379277.1:c.6255C>T NP_001366206.1:p.Tyr2085= NC_000007.14:92108556:C:T p.(Tyr2085=) NC_000007.14:92108556:C:T p.(Tyr2085=) NC_000007.14:92108556:C:T Identity +NM_001321307.1:c.4017C>T NP_001308236.1:p.Ala1339= NC_000011.10:108161089:G:A p.(Ala1339=) NC_000011.10:108161089:G:A p.(Ala1339=) NC_000011.10:108161089:G:A Identity +NM_001330091.2:c.39C>A NP_001317020.1:p.Gly13= NC_000002.12:50346910:G:T p.(Gly13=) NC_000002.12:50346910:G:T p.(Gly13=) NC_000002.12:50346910:G:T Identity +NM_001406559.1:c.39C>G NP_001393488.1:p.Ala13= NC_000010.11:86876056:C:G p.(Ala13=) NC_000010.11:86876056:C:G p.(Ala13=) NC_000010.11:86876056:C:G Identity +NM_001357321.2:c.1158G>A NP_001344250.1:p.Pro386= NC_000002.12:43872255:G:A p.(Pro386=) NC_000002.12:43872255:G:A p.(Pro386=) NC_000002.12:43872255:G:A Identity +NM_001365951.3:c.4143C>A NP_001352880.1:p.Ile1381= NC_000001.11:10361015:C:A p.(Ile1381=) NC_000001.11:10361015:C:A p.(Ile1381=) NC_000001.11:10361015:C:A Identity +NM_052947.4:c.402A>G NP_443179.3:p.Glu134= NC_000018.10:58580373:T:C p.(Glu134=) NC_000018.10:58580373:T:C p.(Glu134=) NC_000018.10:58580373:T:C Identity +NM_001191322.2:c.192G>A NP_001178251.1:p.Glu64= NC_000015.10:32731091:G:A p.(Glu64=) NC_000015.10:32731091:G:A p.(Glu64=) NC_000015.10:32731091:G:A Identity +NM_001040108.2:c.4053G>A NP_001035197.1:p.Leu1351= NC_000014.9:75022850:C:T p.(Leu1351=) NC_000014.9:75022850:C:T p.(Leu1351=) NC_000014.9:75022850:C:T Identity +NM_000548.5:c.4053G>A NP_000539.2:p.Glu1351= NC_000016.10:2084274:G:A p.(Glu1351=) NC_000016.10:2084274:G:A p.(Glu1351=) NC_000016.10:2084274:G:A Identity +NM_001321309.2:c.3558T>C NP_001308238.1:p.Ala1186= NC_000003.12:123657327:A:G p.(Ala1186=) NC_000003.12:123657327:A:G p.(Ala1186=) NC_000003.12:123657327:A:G Identity +NM_001256820.2:c.300A>G NP_001243749.1:p.Ser100= NC_000001.11:155904331:T:C p.(Ser100=) NC_000001.11:155904331:T:C p.(Ser100=) NC_000001.11:155904331:T:C Identity +NM_012186.3:c.408G>A NP_036318.1:p.Pro136= NC_000001.11:47416722:G:A p.(Pro136=) NC_000001.11:47416722:G:A p.(Pro136=) NC_000001.11:47416722:G:A Identity +NM_052947.4:c.4092A>T NP_443179.3:p.Gly1364= NC_000018.10:58536094:T:A p.(Gly1364=) NC_000018.10:58536094:T:A p.(Gly1364=) NC_000018.10:58536094:T:A Identity +NM_001367624.2:c.11736C>T NP_001354553.1:p.His3912= NC_000016.10:88439205:C:T p.(His3912=) NC_000016.10:88439205:C:T p.(His3912=) NC_000016.10:88439205:C:T Identity +NM_006231.4:c.4119T>G NP_006222.2:p.Ala1373= NC_000012.12:132648958:A:C p.(Ala1373=) NC_000012.12:132648958:A:C p.(Ala1373=) NC_000012.12:132648958:A:C Identity +NM_001040108.2:c.4140T>C NP_001035197.1:p.Leu1380= NC_000014.9:75018930:A:G p.(Leu1380=) NC_000014.9:75018930:A:G p.(Leu1380=) NC_000014.9:75018930:A:G Identity +NM_000130.5:c.4143G>A NP_000121.2:p.Gln1381= NC_000001.11:169540946:C:T p.(Gln1381=) NC_000001.11:169540946:C:T p.(Gln1381=) NC_000001.11:169540946:C:T Identity +NM_001365951.3:c.4287C>T NP_001352880.1:p.Tyr1429= NC_000001.11:10361807:C:T p.(Tyr1429=) NC_000001.11:10361807:C:T p.(Tyr1429=) NC_000001.11:10361807:C:T Identity +NM_003924.4:c.414A>G NP_003915.2:p.Thr138= NC_000004.12:41747363:T:C p.(Thr138=) NC_000004.12:41747363:T:C p.(Thr138=) NC_000004.12:41747363:T:C Identity +NM_000903.3:c.415C>A NP_000894.1:p.Arg139= NC_000016.10:69714965:G:T p.(Arg139=) NC_000016.10:69714965:G:T p.(Arg139=) NC_000016.10:69714965:G:T Identity +NM_001353765.2:c.957C>A NP_001340694.1:p.Thr319= NC_000002.12:29196772:G:T p.(Thr319=) NC_000002.12:29196772:G:T p.(Thr319=) NC_000002.12:29196772:G:T Identity +NM_000492.4:c.4164A>G NP_000483.3:p.Leu1388= NC_000007.14:117665485:A:G p.(Leu1388=) NC_000007.14:117665485:A:G p.(Leu1388=) NC_000007.14:117665485:A:G Identity +NM_001367624.2:c.4257C>G NP_001354553.1:p.Gly1419= NC_000016.10:88431726:C:G p.(Gly1419=) NC_000016.10:88431726:C:G p.(Gly1419=) NC_000016.10:88431726:C:G Identity +NM_000179.3:c.418A>C NP_000170.1:p.Arg140= NC_000002.12:47791083:A:C p.(Arg140=) NC_000002.12:47791083:A:C p.(Arg140=) NC_000002.12:47791083:A:C Identity +NM_001256850.1:c.64278T>C NP_001243779.1:p.Asp21426= NC_000002.12:178577133:A:G p.(Asp21426=) NC_000002.12:178577133:A:G p.(Asp21426=) NC_000002.12:178577133:A:G Identity +NM_001282424.3:c.2733C>T NP_001269353.2:p.Asn911= NC_000012.12:8869187:C:T p.(Asn911=) NC_000012.12:8869187:C:T p.(Asn911=) NC_000012.12:8869187:C:T Identity +NM_199420.4:c.4209T>C NP_955452.3:p.Asp1403= NC_000003.12:121488721:A:G p.(Asp1403=) NC_000003.12:121488721:A:G p.(Asp1403=) NC_000003.12:121488721:A:G Identity +NM_001282403.2:c.420T>C NP_001269332.1:p.Ile140= NC_000007.14:76058068:T:C p.(Ile140=) NC_000007.14:76058068:T:C p.(Ile140=) NC_000007.14:76058068:T:C Identity +NM_001040108.2:c.4212T>C NP_001035197.1:p.Ala1404= NC_000014.9:75018858:A:G p.(Ala1404=) NC_000014.9:75018858:A:G p.(Ala1404=) NC_000014.9:75018858:A:G Identity +NM_199460.4:c.4362G>T NP_955630.3:p.Val1454= NC_000012.12:2655223:G:T p.(Val1454=) NC_000012.12:2655223:G:T p.(Val1454=) NC_000012.12:2655223:G:T Identity +NM_000264.5:c.4236C>A NP_000255.2:p.Pro1412= NC_000009.12:95447019:G:T p.(Pro1412=) NC_000009.12:95447019:G:T p.(Pro1412=) NC_000009.12:95447019:G:T Identity +NM_000335.5:c.423C>A NP_000326.2:p.Ile141= NC_000003.12:38622458:G:T p.(Ile141=) NC_000003.12:38622458:G:T p.(Ile141=) NC_000003.12:38622458:G:T Identity +NM_001256850.1:c.64734A>G NP_001243779.1:p.Arg21578= NC_000002.12:178576586:T:C p.(Arg21578=) NC_000002.12:178576586:T:C p.(Arg21578=) NC_000002.12:178576586:T:C Identity +NM_000051.4:c.4256_4258delinsCTT NP_000042.3:p.Leu1419_Leu1420delinsProPhe NC_000011.10:108289620:TTC:CTT p.(Leu1419_Leu1420delinsProPhe) NC_000011.10:108289620:TTC:CTT p.(Leu1419_Leu1420delinsProPhe) NC_000011.10:108289620:TTC:CTT Identity +NM_001256850.1:c.64839G>A NP_001243779.1:p.Lys21613= NC_000002.12:178576369:C:T p.(Lys21613=) NC_000002.12:178576369:C:T p.(Lys21613=) NC_000002.12:178576369:C:T Identity +NM_052947.4:c.4257A>G NP_443179.3:p.Lys1419= NC_000018.10:58535929:T:C p.(Lys1419=) NC_000018.10:58535929:T:C p.(Lys1419=) NC_000018.10:58535929:T:C Identity +NM_020778.5:c.3672G>T NP_065829.4:p.Leu1224= NC_000015.10:84858409:G:T p.(Leu1224=) NC_000015.10:84858409:G:T p.(Leu1224=) NC_000015.10:84858409:G:T Identity +NM_199420.4:c.4284T>C NP_955452.3:p.Leu1428= NC_000003.12:121488646:A:G p.(Leu1428=) NC_000003.12:121488646:A:G p.(Leu1428=) NC_000003.12:121488646:A:G Identity +NM_001999.4:c.4290C>A NP_001990.2:p.Gly1430= NC_000005.10:128330627:G:T p.(Gly1430=) NC_000005.10:128330627:G:T p.(Gly1430=) NC_000005.10:128330627:G:T Identity +NM_001407571.1:c.4077T>C NP_001394500.1:p.Pro1359= NC_000017.11:43082470:A:G p.(Pro1359=) NC_000017.11:43082470:A:G p.(Pro1359=) NC_000017.11:43082470:A:G Identity +NM_001365951.3:c.4433del NP_001352880.1:p.Asn1477_Leu1478insTer NC_000001.11:10365164:TT:T p.(Leu1478Ter) NC_000001.11:10365164:TT:T p.(Leu1478Ter) NC_000001.11:10365165:T: Analogous +NM_001082486.2:c.756C>T NP_001075955.2:p.Pro252= NC_000016.10:67658627:G:A p.(Pro252=) NC_000016.10:67658627:G:A p.(Pro252=) NC_000016.10:67658627:G:A Identity +NM_007272.3:c.429A>T NP_009203.2:p.Pro143= NC_000001.11:15443490:A:T p.(Pro143=) NC_000001.11:15443490:A:T p.(Pro143=) NC_000001.11:15443490:A:T Identity +NM_000214.3:c.42A>G NP_000205.1:p.Leu14= NC_000020.11:10673488:T:C p.(Leu14=) NC_000020.11:10673488:T:C p.(Leu14=) NC_000020.11:10673488:T:C Identity +NM_001868.4:c.42C>A NP_001859.1:p.Val14= NC_000007.14:130380561:C:A p.(Val14=) NC_000007.14:130380561:C:A p.(Val14=) NC_000007.14:130380561:C:A Identity +NM_001410772.1:c.432T>C NP_001397701.1:p.His144= NC_000003.12:52407403:A:G p.(His144=) NC_000003.12:52407403:A:G p.(His144=) NC_000003.12:52407403:A:G Identity +NM_001367624.2:c.4414C>T NP_001354553.1:p.Leu1472= NC_000016.10:88431883:C:T p.(Leu1472=) NC_000016.10:88431883:C:T p.(Leu1472=) NC_000016.10:88431883:C:T Identity +NM_001367624.2:c.11805C>T NP_001354553.1:p.Leu3935= NC_000016.10:88439274:C:T p.(Leu3935=) NC_000016.10:88439274:C:T p.(Leu3935=) NC_000016.10:88439274:C:T Identity +NM_001256850.1:c.65697C>T NP_001243779.1:p.Asn21899= NC_000002.12:178575511:G:A p.(Asn21899=) NC_000002.12:178575511:G:A p.(Asn21899=) NC_000002.12:178575511:G:A Identity +NM_001098623.2:c.4356G>A NP_001092093.2:p.Val1452= NC_000001.11:228256696:G:A p.(Val1452=) NC_000001.11:228256696:G:A p.(Val1452=) NC_000001.11:228256696:G:A Identity +NM_199420.4:c.435C>G NP_955452.3:p.Pro145= NC_000003.12:121541387:G:C p.(Pro145=) NC_000003.12:121541387:G:C p.(Pro145=) NC_000003.12:121541387:G:C Identity +NM_001367624.2:c.11814G>A NP_001354553.1:p.Gln3938= NC_000016.10:88439283:G:A p.(Gln3938=) NC_000016.10:88439283:G:A p.(Gln3938=) NC_000016.10:88439283:G:A Identity +NM_001111125.3:c.4368C>T NP_001104595.1:p.Ser1456= NC_000023.11:53234317:G:A p.(Ser1456=) NC_000023.11:53234317:G:A p.(Ser1456=) NC_000023.11:53234317:G:A Identity +NM_005502.4:c.4377T>C NP_005493.2:p.Pro1459= NC_000009.12:104806327:A:G p.(Pro1459=) NC_000009.12:104806327:A:G p.(Pro1459=) NC_000009.12:104806327:A:G Identity +NM_000903.3:c.441C>T NP_000894.1:p.Ile147= NC_000016.10:69713105:G:A p.(Ile147=) NC_000016.10:69713105:G:A p.(Ile147=) NC_000016.10:69713105:G:A Identity +NM_001007468.3:c.414C>T NP_001007469.1:p.Cys138= NC_000022.11:23801021:C:T p.(Cys138=) NC_000022.11:23801021:C:T p.(Cys138=) NC_000022.11:23801021:C:T Identity +NM_006231.4:c.444G>A NP_006222.2:p.Leu148= NC_000012.12:132679630:C:T p.(Leu148=) NC_000012.12:132679630:C:T p.(Leu148=) NC_000012.12:132679630:C:T Identity +NM_003079.5:c.1176C>T NP_003070.3:p.Asn392= NC_000017.11:40628844:G:A p.(Asn392=) NC_000017.11:40628844:G:A p.(Asn392=) NC_000017.11:40628844:G:A Identity +NM_001081640.2:c.4458G>A NP_001075109.1:p.Leu1486= NC_000008.11:47887660:C:T p.(Leu1486=) NC_000008.11:47887660:C:T p.(Leu1486=) NC_000008.11:47887660:C:T Identity +NM_001134363.3:c.1176G>A NP_001127835.2:p.Arg392= NC_000010.11:110781784:G:A p.(Arg392=) NC_000010.11:110781784:G:A p.(Arg392=) NC_000010.11:110781784:G:A Identity +NM_002471.4:c.4485G>A NP_002462.2:p.Glu1495= NC_000014.9:23387797:C:T p.(Glu1495=) NC_000014.9:23387797:C:T p.(Glu1495=) NC_000014.9:23387797:C:T Identity +NM_000059.4:c.4488A>T NP_000050.3:p.Pro1496= NC_000013.11:32338842:A:T p.(Pro1496=) NC_000013.11:32338842:A:T p.(Pro1496=) NC_000013.11:32338842:A:T Identity +NM_001191322.2:c.240T>C NP_001178251.1:p.Thr80= NC_000015.10:32731139:T:C p.(Thr80=) NC_000015.10:32731139:T:C p.(Thr80=) NC_000015.10:32731139:T:C Identity +NM_001365999.1:c.4692G>A NP_001352928.1:p.Pro1564= NC_000001.11:43430706:G:A p.(Pro1564=) NC_000001.11:43430706:G:A p.(Pro1564=) NC_000001.11:43430706:G:A Identity +NM_001367624.2:c.4608C>T NP_001354553.1:p.Pro1536= NC_000016.10:88432077:C:T p.(Pro1536=) NC_000016.10:88432077:C:T p.(Pro1536=) NC_000016.10:88432077:C:T Identity +NM_001367624.2:c.4626G>A NP_001354553.1:p.Leu1542= NC_000016.10:88432095:G:A p.(Leu1542=) NC_000016.10:88432095:G:A p.(Leu1542=) NC_000016.10:88432095:G:A Identity +NM_004064.5:c.454A>C NP_004055.1:p.Arg152= NC_000012.12:12718292:A:C p.(Arg152=) NC_000012.12:12718292:A:C p.(Arg152=) NC_000012.12:12718292:A:C Identity +NM_052947.4:c.4569G>A NP_443179.3:p.Glu1523= NC_000018.10:58535617:C:T p.(Glu1523=) NC_000018.10:58535617:C:T p.(Glu1523=) NC_000018.10:58535617:C:T Identity +NM_001377260.1:c.456C>T NP_001364189.1:p.Arg152= NC_000001.11:231421432:G:A p.(Arg152=) NC_000001.11:231421432:G:A p.(Arg152=) NC_000001.11:231421432:G:A Identity +NM_000981.4:c.456G>A NP_000972.1:p.Lys152= NC_000017.11:39204175:G:A p.(Lys152=) NC_000017.11:39204175:G:A p.(Lys152=) NC_000017.11:39204175:G:A Identity +NM_001007793.3:c.456G>A NP_001007794.1:p.Val152= NC_000010.11:123160444:G:A p.(Val152=) NC_000010.11:123160444:G:A p.(Val152=) NC_000010.11:123160444:G:A Identity +NM_000038.6:c.4578T>A NP_000029.2:p.Pro1526= NC_000005.10:112840171:T:A p.(Pro1526=) NC_000005.10:112840171:T:A p.(Pro1526=) NC_000005.10:112840171:T:A Identity +NM_006231.4:c.4581C>G NP_006222.2:p.Gly1527= NC_000012.12:132642966:G:C p.(Gly1527=) NC_000012.12:132642966:G:C p.(Gly1527=) NC_000012.12:132642966:G:C Identity +NM_152594.3:c.117A>G NP_689807.1:p.Leu39= NC_000015.10:38299456:A:G p.(Leu39=) NC_000015.10:38299456:A:G p.(Leu39=) NC_000015.10:38299456:A:G Identity +NM_005431.2:c.459T>A NP_005422.1:p.Ala153= NC_000007.14:152649025:A:T p.(Ala153=) NC_000007.14:152649025:A:T p.(Ala153=) NC_000007.14:152649025:A:T Identity +NM_001193304.3:c.45G>T NP_001180233.1:p.Arg15= NC_000002.12:96265336:C:A p.(Arg15=) NC_000002.12:96265336:C:A p.(Arg15=) NC_000002.12:96265336:C:A Identity +NM_017841.4:c.45T>C NP_060311.1:p.Ala15= NC_000011.10:61437632:T:C p.(Ala15=) NC_000011.10:61437632:T:C p.(Ala15=) NC_000011.10:61437632:T:C Identity +NM_001256850.1:c.68469G>A NP_001243779.1:p.Arg22823= NC_000002.12:178572739:C:T p.(Arg22823=) NC_000002.12:178572739:C:T p.(Arg22823=) NC_000002.12:178572739:C:T Identity +NM_052947.4:c.4671G>A NP_443179.3:p.Thr1557= NC_000018.10:58535515:C:T p.(Thr1557=) NC_000018.10:58535515:C:T p.(Thr1557=) NC_000018.10:58535515:C:T Identity +NM_006231.4:c.4683G>C NP_006222.2:p.Leu1561= NC_000012.12:132642864:C:G p.(Leu1561=) NC_000012.12:132642864:C:G p.(Leu1561=) NC_000012.12:132642864:C:G Identity +NM_017841.4:c.468A>G NP_060311.1:p.Pro156= NC_000011.10:61446037:A:G p.(Pro156=) NC_000011.10:61446037:A:G p.(Pro156=) NC_000011.10:61446037:A:G Identity +NM_001256850.1:c.69445_69449del NP_001243779.1:p.Lys23148_Leu23149insTer NC_000002.12:178571759:GTCAG: p.(Leu23149Ter) NC_000002.12:178571759:GTCAG: p.(Leu23149Ter) NC_000002.12:178571759:GTCAG: Analogous +NM_001195573.1:c.471T>C NP_001182502.1:p.Asn157= NC_000014.9:95130159:A:G p.(Asn157=) NC_000014.9:95130159:A:G p.(Asn157=) NC_000014.9:95130159:A:G Identity +NM_052947.4:c.4725C>G NP_443179.3:p.Pro1575= NC_000018.10:58535461:G:C p.(Pro1575=) NC_000018.10:58535461:G:C p.(Pro1575=) NC_000018.10:58535461:G:C Identity +NM_001289396.2:c.4737T>A NP_001276325.1:p.Arg1579= NC_000009.12:2191407:T:A p.(Arg1579=) NC_000009.12:2191407:T:A p.(Arg1579=) NC_000009.12:2191407:T:A Identity +NM_000384.3:c.4806T>C NP_000375.3:p.Tyr1602= NC_000002.12:21012061:A:G p.(Tyr1602=) NC_000002.12:21012061:A:G p.(Tyr1602=) NC_000002.12:21012061:A:G Identity +NM_199420.4:c.4809A>G NP_955452.3:p.Gln1603= NC_000003.12:121488121:T:C p.(Gln1603=) NC_000003.12:121488121:T:C p.(Gln1603=) NC_000003.12:121488121:T:C Identity +NM_000179.3:c.480G>A NP_000170.1:p.Gln160= NC_000002.12:47795915:G:A p.(Gln160=) NC_000002.12:47795915:G:A p.(Gln160=) NC_000002.12:47795915:G:A Identity +NM_002432.3:c.480T>C NP_002423.1:p.Gly160= NC_000001.11:158844031:T:C p.(Gly160=) NC_000001.11:158844031:T:C p.(Gly160=) NC_000001.11:158844031:T:C Identity +NM_198578.4:c.4851T>C NP_940980.4:p.Gly1617= NC_000012.12:40320010:T:C p.(Gly1617=) NC_000012.12:40320010:T:C p.(Gly1617=) NC_000012.12:40320010:T:C Identity +NM_000535.7:c.486A>G NP_000526.2:p.Leu162= NC_000007.14:6002503:T:C p.(Leu162=) NC_000007.14:6002503:T:C p.(Leu162=) NC_000007.14:6002503:T:C Identity +NM_001130144.3:c.486G>A NP_001123616.1:p.Gly162= NC_000011.10:65554225:C:T p.(Gly162=) NC_000011.10:65554225:C:T p.(Gly162=) NC_000011.10:65554225:C:T Identity +NM_005502.4:c.4875C>T NP_005493.2:p.Ser1625= NC_000009.12:104799886:G:A p.(Ser1625=) NC_000009.12:104799886:G:A p.(Ser1625=) NC_000009.12:104799886:G:A Identity +NM_001346813.1:c.5013C>T NP_001333742.1:p.Ile1671= NC_000006.12:157201486:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_017617.5:c.4929C>A NP_060087.3:p.Ala1643= NC_000009.12:136504761:G:T p.(Ala1643=) NC_000009.12:136504761:G:T p.(Ala1643=) NC_000009.12:136504761:G:T Identity +NM_002907.4:c.492T>C NP_002898.2:p.Ser164= NC_000012.12:21486487:A:G p.(Ser164=) NC_000012.12:21486487:A:G p.(Ser164=) NC_000012.12:21486487:A:G Identity +NM_001184.4:c.4944C>T NP_001175.2:p.Ser1648= NC_000003.12:142508017:G:A p.(Ser1648=) NC_000003.12:142508017:G:A p.(Ser1648=) NC_000003.12:142508017:G:A Identity +NM_000051.4:c.4947C>A NP_000042.3:p.Val1649= NC_000011.10:108297323:C:A p.(Val1649=) NC_000011.10:108297323:C:A p.(Val1649=) NC_000011.10:108297323:C:A Identity +NM_001321307.1:c.495A>G NP_001308236.1:p.Ser165= NC_000011.10:108189166:T:C p.(Ser165=) NC_000011.10:108189166:T:C p.(Ser165=) NC_000011.10:108189166:T:C Identity +NM_000520.6:c.495C>T NP_000511.2:p.Pro165= NC_000015.10:72353142:G:A p.(Pro165=) NC_000015.10:72353142:G:A p.(Pro165=) NC_000015.10:72353142:G:A Identity +NM_000388.4:c.495C>T NP_000379.3:p.Val165= NC_000003.12:122261529:C:T p.(Val165=) NC_000003.12:122261529:C:T p.(Val165=) NC_000003.12:122261529:C:T Identity +NM_199420.4:c.4974A>G NP_955452.3:p.Leu1658= NC_000003.12:121487956:T:C p.(Leu1658=) NC_000003.12:121487956:T:C p.(Leu1658=) NC_000003.12:121487956:T:C Identity +NM_001098623.2:c.11904C>T NP_001092093.2:p.Thr3968= NC_000001.11:228306615:C:T p.(Thr3968=) NC_000001.11:228306615:C:T p.(Thr3968=) NC_000001.11:228306615:C:T Identity +NM_000903.3:c.501C>T NP_000894.1:p.Val167= NC_000016.10:69713045:G:A p.(Val167=) NC_000016.10:69713045:G:A p.(Val167=) NC_000016.10:69713045:G:A Identity +NM_000546.6:c.501G>A NP_000537.3:p.Gln167= NC_000017.11:7675110:C:T p.(Gln167=) NC_000017.11:7675110:C:T p.(Gln167=) NC_000017.11:7675110:C:T Identity +NM_001430.5:c.1191C>G NP_001421.2:p.Pro397= NC_000002.12:46376694:C:G p.(Pro397=) NC_000002.12:46376694:C:G p.(Pro397=) NC_000002.12:46376694:C:G Identity +NM_004387.4:c.504C>T NP_004378.1:p.Arg168= NC_000005.10:173233039:G:A p.(Arg168=) NC_000005.10:173233039:G:A p.(Arg168=) NC_000005.10:173233039:G:A Identity +NM_001211.6:c.504T>C NP_001202.5:p.Phe168= NC_000015.10:40176595:T:C p.(Phe168=) NC_000015.10:40176595:T:C p.(Phe168=) NC_000015.10:40176595:T:C Identity +NM_006231.4:c.5056C>T NP_006222.2:p.Leu1686= NC_000012.12:132642293:G:A p.(Leu1686=) NC_000012.12:132642293:G:A p.(Leu1686=) NC_000012.12:132642293:G:A Identity +NM_004064.5:c.507A>G NP_004055.1:p.Arg169= NC_000012.12:12718855:A:G p.(Arg169=) NC_000012.12:12718855:A:G p.(Arg169=) NC_000012.12:12718855:A:G Identity +NM_199420.4:c.507C>T NP_955452.3:p.Asp169= NC_000003.12:121539556:G:A p.(Asp169=) NC_000003.12:121539556:G:A p.(Asp169=) NC_000003.12:121539556:G:A Identity +NM_198578.4:c.5082A>G NP_940980.4:p.Leu1694= NC_000012.12:40321099:A:G p.(Leu1694=) NC_000012.12:40321099:A:G p.(Leu1694=) NC_000012.12:40321099:A:G Identity +NM_001166108.2:c.510C>T NP_001159580.1:p.Asp170= NC_000004.12:168512013:C:T p.(Asp170=) NC_000004.12:168512013:C:T p.(Asp170=) NC_000004.12:168512013:C:T Identity +NM_000051.4:c.510G>T NP_000042.3:p.Val170= NC_000011.10:108243965:G:T p.(Val170=) NC_000011.10:108243965:G:T p.(Val170=) NC_000011.10:108243965:G:T Identity +NM_001256850.1:c.73551A>G NP_001243779.1:p.Arg24517= NC_000002.12:178567657:T:C p.(Arg24517=) NC_000002.12:178567657:T:C p.(Arg24517=) NC_000002.12:178567657:T:C Identity +NM_000059.4:c.5127T>C NP_000050.3:p.Asp1709= NC_000013.11:32339481:T:C p.(Asp1709=) NC_000013.11:32339481:T:C p.(Asp1709=) NC_000013.11:32339481:T:C Identity +NM_000214.3:c.513G>A NP_000205.1:p.Lys171= NC_000020.11:10658648:C:T p.(Lys171=) NC_000020.11:10658648:C:T p.(Lys171=) NC_000020.11:10658648:C:T Identity +NM_000088.4:c.516C>A NP_000079.2:p.Thr172= NC_000017.11:50198459:G:T p.(Thr172=) NC_000017.11:50198459:G:T p.(Thr172=) NC_000017.11:50198459:G:T Identity +NM_199420.4:c.5187T>G NP_955452.3:p.Val1729= NC_000003.12:121487743:A:C p.(Val1729=) NC_000003.12:121487743:A:C p.(Val1729=) NC_000003.12:121487743:A:C Identity +NM_001007468.3:c.492A>G NP_001007469.1:p.Pro164= NC_000022.11:23803312:A:G p.(Pro164=) NC_000022.11:23803312:A:G p.(Pro164=) NC_000022.11:23803312:A:G Identity +NM_002432.3:c.519C>T NP_002423.1:p.Pro173= NC_000001.11:158844070:C:T p.(Pro173=) NC_000001.11:158844070:C:T p.(Pro173=) NC_000001.11:158844070:C:T Identity +NM_002769.5:c.519C>T NP_002760.1:p.Ala173= NC_000007.14:142752494:C:T p.(Ala173=) NC_000007.14:142752494:C:T p.(Ala173=) NC_000007.14:142752494:C:T Identity +NM_001430.5:c.519G>A NP_001421.2:p.Lys173= NC_000002.12:46360701:G:A p.(Lys173=) NC_000002.12:46360701:G:A p.(Lys173=) NC_000002.12:46360701:G:A Identity +NM_004281.4:c.519T>A NP_004272.2:p.Ser173= NC_000010.11:119672265:T:A p.(Ser173=) NC_000010.11:119672265:T:A p.(Ser173=) NC_000010.11:119672265:T:A Identity +NM_001276503.2:c.51A>G NP_001263432.1:p.Arg17= NC_000011.10:112086957:A:G p.(Arg17=) NC_000011.10:112086957:A:G p.(Arg17=) NC_000011.10:112086957:A:G Identity +NM_015450.3:c.51T>A NP_056265.2:p.Leu17= NC_000007.14:124892338:A:T p.(Leu17=) NC_000007.14:124892338:A:T p.(Leu17=) NC_000007.14:124892338:A:T Identity +NM_001166108.2:c.1197A>G NP_001159580.1:p.Ser399= NC_000004.12:168683039:A:G p.(Ser399=) NC_000004.12:168683039:A:G p.(Ser399=) NC_000004.12:168683039:A:G Identity +NM_001098623.2:c.522G>C NP_001092093.2:p.Ala174= NC_000001.11:228212304:G:C p.(Ala174=) NC_000001.11:228212304:G:C p.(Ala174=) NC_000001.11:228212304:G:C Identity +NM_052947.4:c.1197C>T NP_443179.3:p.Gly399= NC_000018.10:58579578:G:A p.(Gly399=) NC_000018.10:58579578:G:A p.(Gly399=) NC_000018.10:58579578:G:A Identity +NM_002769.5:c.525C>T NP_002760.1:p.Tyr175= NC_000007.14:142752500:C:T p.(Tyr175=) NC_000007.14:142752500:C:T p.(Tyr175=) NC_000007.14:142752500:C:T Identity +NM_001367624.2:c.525C>T NP_001354553.1:p.Ala175= NC_000016.10:88427994:C:T p.(Ala175=) NC_000016.10:88427994:C:T p.(Ala175=) NC_000016.10:88427994:C:T Identity +NM_001256850.1:c.75009C>T NP_001243779.1:p.Asn25003= NC_000002.12:178566199:G:A p.(Asn25003=) NC_000002.12:178566199:G:A p.(Asn25003=) NC_000002.12:178566199:G:A Identity +NM_003079.5:c.528T>C NP_003070.3:p.Ala176= NC_000017.11:40635943:A:G p.(Ala176=) NC_000017.11:40635943:A:G p.(Ala176=) NC_000017.11:40635943:A:G Identity +NM_000051.4:c.5290C>T NP_000042.3:p.Leu1764= NC_000011.10:108301759:C:T p.(Leu1764=) NC_000011.10:108301759:C:T p.(Leu1764=) NC_000011.10:108301759:C:T Identity +NM_005502.4:c.5313C>T NP_005493.2:p.Thr1771= NC_000009.12:104796121:G:A p.(Thr1771=) NC_000009.12:104796121:G:A p.(Thr1771=) NC_000009.12:104796121:G:A Identity +NM_001184.4:c.5341T>C NP_001175.2:p.Leu1781= NC_000003.12:142499665:A:G p.(Leu1781=) NC_000003.12:142499665:A:G p.(Leu1781=) NC_000003.12:142499665:A:G Identity +NM_001098623.2:c.5358C>T NP_001092093.2:p.Ser1786= NC_000001.11:228273989:C:T p.(Ser1786=) NC_000001.11:228273989:C:T p.(Ser1786=) NC_000001.11:228273989:C:T Identity +NM_001304420.3:c.537A>G NP_001291349.1:p.Glu179= NC_000003.12:57857749:A:G p.(Glu179=) NC_000003.12:57857749:A:G p.(Glu179=) NC_000003.12:57857749:A:G Identity +NM_001323983.1:c.537C>G NP_001310912.1:p.Ala179= NC_000005.10:138812250:C:G p.(Ala179=) NC_000005.10:138812250:C:G p.(Ala179=) NC_000005.10:138812250:C:G Identity +NM_001282386.1:c.537C>T NP_001269315.1:p.Ala179= NC_000002.12:208243587:G:A p.(Ala179=) NC_000002.12:208243587:G:A p.(Ala179=) NC_000002.12:208243587:G:A Identity +NM_001148.6:c.5403C>T NP_001139.3:p.Thr1801= NC_000004.12:113354020:C:T p.(Thr1801=) NC_000004.12:113354020:C:T p.(Thr1801=) NC_000004.12:113354020:C:T Identity +NM_199420.4:c.5406A>C NP_955452.3:p.Thr1802= NC_000003.12:121487524:T:G p.(Thr1802=) NC_000003.12:121487524:T:G p.(Thr1802=) NC_000003.12:121487524:T:G Identity +NM_001282404.2:c.219T>C NP_001269333.1:p.Phe73= NC_000007.14:76060482:T:C p.(Phe73=) NC_000007.14:76060482:T:C p.(Phe73=) NC_000007.14:76060482:T:C Identity +NM_001410772.1:c.541_542delTT NP_001397701.1:p.Phe181Terfs NC_000003.12:52407210:AAA:A p.(Phe181Ter) NC_000003.12:52407210:AAA:A p.(Phe181Ter) NC_000003.12:52407211:AA: Analogous +NM_000051.4:c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT NP_000042.3:p.Cys1811delinsLeuSerLysSerTer NC_000011.10:108302932:AAATCATGACATTTGGATAAAGACACTGACTT:AAATCATGACATTTGGATAAAGACACTGACTTTATCCAAATCATGACATTTGGATAAAGACACTGACTT p.(Cys1811LeufsTer5) NC_000011.10:108302963:T:TATCCAAATCATGACATTTGGATAAAGACACTGACTT p.(Cys1811LeufsTer5) NC_000011.10:108302964:TG:TATCCAAATCATGACATTTGGATAAAGACACTGACTT Analogous +NM_000257.4:c.5448A>G NP_000248.2:p.Glu1816= NC_000014.9:23415105:T:C p.(Glu1816=) NC_000014.9:23415105:T:C p.(Glu1816=) NC_000014.9:23415105:T:C Identity +NM_001354689.3:c.1261C>A NP_001341618.1:p.Arg421= NC_000003.12:12590966:G:T p.(Arg421=) NC_000003.12:12590966:G:T p.(Arg421=) NC_000003.12:12590966:G:T Identity +NM_001301012.2:c.384A>T NP_001287941.1:p.Ser128= NC_000006.12:133462442:A:T p.(Ser128=) NC_000006.12:133462442:A:T p.(Ser128=) NC_000006.12:133462442:A:T Identity +NM_017617.5:c.5475C>T NP_060087.3:p.Phe1825= NC_000009.12:136501910:G:A p.(Phe1825=) NC_000009.12:136501910:G:A p.(Phe1825=) NC_000009.12:136501910:G:A Identity +NM_001378969.1:c.547C>T NP_001365898.1:p.Leu183= NC_000001.11:111982179:G:A p.(Leu183=) NC_000001.11:111982179:G:A p.(Leu183=) NC_000001.11:111982179:G:A Identity +NM_058216.3:c.549A>T NP_478123.1:p.Ile183= NC_000017.11:58696836:A:T p.(Ile183=) NC_000017.11:58696836:A:T p.(Ile183=) NC_000017.11:58696836:A:T Identity +NM_001377260.1:c.549G>A NP_001364189.1:p.Gly183= NC_000001.11:231421339:C:T p.(Gly183=) NC_000001.11:231421339:C:T p.(Gly183=) NC_000001.11:231421339:C:T Identity +NM_001321307.1:c.549T>C NP_001308236.1:p.Thr183= NC_000011.10:108189112:A:G p.(Thr183=) NC_000011.10:108189112:A:G p.(Thr183=) NC_000011.10:108189112:A:G Identity +NM_001256849.1:c.54C>A NP_001243778.1:p.Ala18= NC_000019.10:50398904:C:A p.(Ala18=) NC_000019.10:50398904:C:A p.(Ala18=) NC_000019.10:50398904:C:A Identity +NM_000075.4:c.54G>T NP_000066.1:p.Gly18= NC_000012.12:57751663:C:A p.(Gly18=) NC_000012.12:57751663:C:A p.(Gly18=) NC_000012.12:57751663:C:A Identity +NM_001184896.1:c.658A>C NP_001171825.1:p.Arg220= NC_000023.11:54016640:T:G p.(Arg220=) NC_000023.11:54016640:T:G p.(Arg220=) NC_000023.11:54016640:T:G Identity +NM_001291628.2:c.5517G>C NP_001278557.1:p.Arg1839= NC_000014.9:95091212:C:G p.(Arg1839=) NC_000014.9:95091212:C:G p.(Arg1839=) NC_000014.9:95091212:C:G Identity +NM_001110556.2:c.5550C>T NP_001104026.1:p.His1850= NC_000023.11:154354157:G:A p.(His1850=) NC_000023.11:154354157:G:A p.(His1850=) NC_000023.11:154354157:G:A Identity +NM_000249.4:c.552A>G NP_000240.1:p.Ser184= NC_000003.12:37011825:A:G p.(Ser184=) NC_000003.12:37011825:A:G p.(Ser184=) NC_000003.12:37011825:A:G Identity +NM_000551.4:c.552C>G NP_000542.1:p.Leu184= NC_000003.12:10149874:C:G p.(Leu184=) NC_000003.12:10149874:C:G p.(Leu184=) NC_000003.12:10149874:C:G Identity +NM_053046.4:c.552C>T NP_444274.1:p.Pro184= NC_000019.10:40801123:C:T p.(Pro184=) NC_000019.10:40801123:C:T p.(Pro184=) NC_000019.10:40801123:C:T Identity +NM_001081640.2:c.5532G>T NP_001075109.1:p.Val1844= NC_000008.11:47864594:C:A p.(Val1844=) NC_000008.11:47864594:C:A p.(Val1844=) NC_000008.11:47864594:C:A Identity +NM_199420.4:c.5544G>A NP_955452.3:p.Lys1848= NC_000003.12:121487386:C:T p.(Lys1848=) NC_000003.12:121487386:C:T p.(Lys1848=) NC_000003.12:121487386:C:T Identity +NM_001098623.2:c.5547G>A NP_001092093.2:p.Arg1849= NC_000001.11:228274307:G:A p.(Arg1849=) NC_000001.11:228274307:G:A p.(Arg1849=) NC_000001.11:228274307:G:A Identity +NM_000051.4:c.5553C>A NP_000042.3:p.Leu1851= NC_000011.10:108304730:C:A p.(Leu1851=) NC_000011.10:108304730:C:A p.(Leu1851=) NC_000011.10:108304730:C:A Identity +NM_001211.6:c.555A>C NP_001202.5:p.Pro185= NC_000015.10:40176646:A:C p.(Pro185=) NC_000015.10:40176646:A:C p.(Pro185=) NC_000015.10:40176646:A:C Identity +NM_000059.4:c.555A>T NP_000050.3:p.Gly185= NC_000013.11:32326536:A:T p.(Gly185=) NC_000013.11:32326536:A:T p.(Gly185=) NC_000013.11:32326536:A:T Identity +NM_001135599.4:c.639C>A NP_001129071.1:p.Ile213= NC_000001.11:218434125:C:A p.(Ile213=) NC_000001.11:218434125:C:A p.(Ile213=) NC_000001.11:218434125:C:A Identity +NM_001868.4:c.555C>G NP_001859.1:p.Thr185= NC_000007.14:130383461:C:G p.(Thr185=) NC_000007.14:130383461:C:G p.(Thr185=) NC_000007.14:130383461:C:G Identity +NM_052947.4:c.5562A>G NP_443179.3:p.Gly1854= NC_000018.10:58524001:T:C p.(Gly1854=) NC_000018.10:58524001:T:C p.(Gly1854=) NC_000018.10:58524001:T:C Identity +NM_001160227.2:c.5570delinsGTTC NP_001153699.1:p.Leu1857delinsArgSer NC_000015.10:44584109:A:GAAC p.(Leu1857_Asn1858insPhe) NC_000015.10:44584108:AA:AGAAC p.(Leu1857delinsArgSer) NC_000015.10:44584109:A:GAAC Different +NM_000238.4:c.558C>G NP_000229.1:p.Gly186= NC_000007.14:150958416:G:C p.(Gly186=) NC_000007.14:150958416:G:C p.(Gly186=) NC_000007.14:150958416:G:C Identity +NM_001256182.2:c.5592T>G NP_001243111.1:p.Ala1864= NC_000016.10:89280949:A:C p.(Ala1864=) NC_000016.10:89280949:A:C p.(Ala1864=) NC_000016.10:89280949:A:C Identity +NM_006231.4:c.5616C>A NP_006222.2:p.Ile1872= NC_000012.12:132638075:G:T p.(Ile1872=) NC_000012.12:132638075:G:T p.(Ile1872=) NC_000012.12:132638075:G:T Identity +NM_001353899.1:c.855T>C NP_001340828.1:p.Leu285= NC_000018.10:47067070:T:C p.(Leu285=) NC_000018.10:47067070:T:C p.(Leu285=) NC_000018.10:47067070:T:C Identity +NM_001378454.1:c.5628A>T NP_001365383.1:p.Ile1876= NC_000002.12:73452154:A:T p.(Ile1876=) NC_000002.12:73452154:A:T p.(Ile1876=) NC_000002.12:73452154:A:T Identity +NM_198578.4:c.5643A>T NP_940980.4:p.Pro1881= NC_000012.12:40323292:A:T p.(Pro1881=) NC_000012.12:40323292:A:T p.(Pro1881=) NC_000012.12:40323292:A:T Identity +NM_001134363.3:c.564C>T NP_001127835.2:p.Asn188= NC_000010.11:110781172:C:T p.(Asn188=) NC_000010.11:110781172:C:T p.(Asn188=) NC_000010.11:110781172:C:T Identity +NM_002524.5:c.564G>C NP_002515.1:p.Val188= NC_000001.11:114708540:C:G p.(Val188=) NC_000001.11:114708540:C:G p.(Val188=) NC_000001.11:114708540:C:G Identity +NM_001365276.2:c.5652C>A NP_001352205.1:p.Leu1884= NC_000006.12:32069071:G:T p.(Leu1884=) NC_000006.12:32069071:G:T p.(Leu1884=) NC_000006.12:32069071:G:T Identity +NM_052947.4:c.5655G>A NP_443179.3:p.Gln1885= NC_000018.10:58523815:C:T p.(Gln1885=) NC_000018.10:58523815:C:T p.(Gln1885=) NC_000018.10:58523815:C:T Identity +NM_003803.4:c.1206G>T NP_003794.3:p.Arg402= NC_000018.10:3168949:C:A p.(Arg402=) NC_000018.10:3168949:C:A p.(Arg402=) NC_000018.10:3168949:C:A Identity +NM_000051.4:c.5694A>T NP_000042.3:p.Arg1898= NC_000011.10:108307915:A:T p.(Arg1898=) NC_000011.10:108307915:A:T p.(Arg1898=) NC_000011.10:108307915:A:T Identity +NM_001251987.2:c.57_58insTTTT NP_001238916.1:p.Lys20delinsPheTer NC_000006.12:123571097::AAAA p.(Lys20PhefsTer2) NC_000006.12:123571096:T:AAAA p.(Lys20PhefsTer2) NC_000006.12:123571097:TG:AAAA Analogous +NM_021167.5:c.570T>C NP_066990.3:p.Pro190= NC_000007.14:92454635:T:C p.(Pro190=) NC_000007.14:92454635:T:C p.(Pro190=) NC_000007.14:92454635:T:C Identity +NM_198578.4:c.5730A>G NP_940980.4:p.Lys1910= NC_000012.12:40328432:A:G p.(Lys1910=) NC_000012.12:40328432:A:G p.(Lys1910=) NC_000012.12:40328432:A:G Identity +NM_198578.4:c.5733T>C NP_940980.4:p.His1911= NC_000012.12:40328435:T:C p.(His1911=) NC_000012.12:40328435:T:C p.(His1911=) NC_000012.12:40328435:T:C Identity +NM_001411065.1:c.429C>G NP_001397994.1:p.Val143= NC_000015.10:66481758:C:G p.(Val143=) NC_000015.10:66481758:C:G p.(Val143=) NC_000015.10:66481758:C:G Identity +NM_000051.4:c.5745C>T NP_000042.3:p.Tyr1915= NC_000011.10:108307966:C:T p.(Tyr1915=) NC_000011.10:108307966:C:T p.(Tyr1915=) NC_000011.10:108307966:C:T Identity +NM_199420.4:c.5749C>T NP_955452.3:p.Leu1917= NC_000003.12:121485064:G:A p.(Leu1917=) NC_000003.12:121485064:G:A p.(Leu1917=) NC_000003.12:121485064:G:A Identity +NM_052947.4:c.5763G>A NP_443179.3:p.Glu1921= NC_000018.10:58517084:C:T p.(Glu1921=) NC_000018.10:58517084:C:T p.(Glu1921=) NC_000018.10:58517084:C:T Identity +NM_001184.4:c.5793T>C NP_001175.2:p.Ala1931= NC_000003.12:142496465:A:G p.(Ala1931=) NC_000003.12:142496465:A:G p.(Ala1931=) NC_000003.12:142496465:A:G Identity +NM_000075.4:c.57A>G NP_000066.1:p.Thr19= NC_000012.12:57751660:T:C p.(Thr19=) NC_000012.12:57751660:T:C p.(Thr19=) NC_000012.12:57751660:T:C Identity +NM_001318193.2:c.33G>C NP_001305122.2:p.Arg11= NC_000016.10:2047790:C:G p.(Arg11=) NC_000016.10:2047790:C:G p.(Arg11=) NC_000016.10:2047790:C:G Identity +NM_199420.4:c.120C>T NP_955452.3:p.Ser40= NC_000003.12:121545757:G:A p.(Ser40=) NC_000003.12:121545757:G:A p.(Ser40=) NC_000003.12:121545757:G:A Identity +NM_012186.3:c.575CGCCCG[3] NP_036318.1:p.Pro195_Gly196insAlaPro NC_000001.11:47416887:CGCGCCCGCGCCCG:CGCGCCCGCGCCCGCGCCCG p.(Ala194_Pro195dup) NC_000001.11:47416889:C:CGCCCGCGCCCGCGCCCG ERR:Parse ERR:Parse Analogous +NM_052947.4:c.5811A>T NP_443179.3:p.Thr1937= NC_000018.10:58517036:T:A p.(Thr1937=) NC_000018.10:58517036:T:A p.(Thr1937=) NC_000018.10:58517036:T:A Identity +NM_001256182.2:c.5823C>G NP_001243111.1:p.Ala1941= NC_000016.10:89280718:G:C p.(Ala1941=) NC_000016.10:89280718:G:C p.(Ala1941=) NC_000016.10:89280718:G:C Identity +NM_001406559.1:c.657A>G NP_001393488.1:p.Glu219= NC_000010.11:86912290:A:G p.(Glu219=) NC_000010.11:86912290:A:G p.(Glu219=) NC_000010.11:86912290:A:G Identity +NM_001282386.1:c.585T>C NP_001269315.1:p.Ser195= NC_000002.12:208243539:A:G p.(Ser195=) NC_000002.12:208243539:A:G p.(Ser195=) NC_000002.12:208243539:A:G Identity +NM_052947.4:c.5877C>T NP_443179.3:p.Ala1959= NC_000018.10:58516970:G:A p.(Ala1959=) NC_000018.10:58516970:G:A p.(Ala1959=) NC_000018.10:58516970:G:A Identity +NM_000038.6:c.5886C>T NP_000029.2:p.Cys1962= NC_000005.10:112841479:C:T p.(Cys1962=) NC_000005.10:112841479:C:T p.(Cys1962=) NC_000005.10:112841479:C:T Identity +NM_001363813.1:c.591C>T NP_001350742.1:p.Leu197= NC_000017.11:65558029:G:A p.(Leu197=) NC_000017.11:65558029:G:A p.(Leu197=) NC_000017.11:65558029:G:A Identity +NM_000136.3:c.594C>G NP_000127.2:p.Pro198= NC_000009.12:95150014:G:C p.(Pro198=) NC_000009.12:95150014:G:C p.(Pro198=) NC_000009.12:95150014:G:C Identity +NM_001171611.2:c.594C>T NP_001165082.1:p.Pro198= NC_000010.11:86681707:C:T p.(Pro198=) NC_000010.11:86681707:C:T p.(Pro198=) NC_000010.11:86681707:C:T Identity +NM_000400.4:c.1212C>T NP_000391.1:p.Ala404= NC_000019.10:45361548:G:A p.(Ala404=) NC_000019.10:45361548:G:A p.(Ala404=) NC_000019.10:45361548:G:A Identity +NM_001103.4:c.1212G>A NP_001094.1:p.Glu404= NC_000001.11:236742999:G:A p.(Glu404=) NC_000001.11:236742999:G:A p.(Glu404=) NC_000001.11:236742999:G:A Identity +NM_000388.4:c.597C>T NP_000379.3:p.Asp199= NC_000003.12:122261631:C:T p.(Asp199=) NC_000003.12:122261631:C:T p.(Asp199=) NC_000003.12:122261631:C:T Identity +NM_000118.4:c.1214_1219delTGCGCA NP_000109.1:p.Leu405_Ser407delinsCys NC_000009.12:127819952:TGCGCA: p.(Leu405_Ser407delinsCys) NC_000009.12:127819952:TGCGCA: p.(Leu405_Ser407delinsCys) NC_000009.12:127819952:TGCGCA: Identity +NM_001040633.2:c.468A>G NP_001035723.1:p.Thr156= NC_000007.14:151675503:T:C p.(Thr156=) NC_000007.14:151675503:T:C p.(Thr156=) NC_000007.14:151675503:T:C Identity +NM_001365276.2:c.6036A>C NP_001352205.1:p.Gly2012= NC_000006.12:32068573:T:G p.(Gly2012=) NC_000006.12:32068573:T:G p.(Gly2012=) NC_000006.12:32068573:T:G Identity +NM_006231.4:c.6072C>A NP_006222.2:p.Pro2024= NC_000012.12:132632727:G:T p.(Pro2024=) NC_000012.12:132632727:G:T p.(Pro2024=) NC_000012.12:132632727:G:T Identity +NM_001098623.2:c.6078C>T NP_001092093.2:p.Ala2026= NC_000001.11:228275883:C:T p.(Ala2026=) NC_000001.11:228275883:C:T p.(Ala2026=) NC_000001.11:228275883:C:T Identity +NM_198578.4:c.6093A>C NP_940980.4:p.Thr2031= NC_000012.12:40340437:A:C p.(Thr2031=) NC_000012.12:40340437:A:C p.(Thr2031=) NC_000012.12:40340437:A:C Identity +NM_001040113.2:c.609G>A NP_001035202.1:p.Lys203= NC_000016.10:15786653:C:T p.(Lys203=) NC_000016.10:15786653:C:T p.(Lys203=) NC_000016.10:15786653:C:T Identity +NM_001081640.2:c.60C>T NP_001075109.1:p.Ser20= NC_000008.11:47960066:G:A p.(Ser20=) NC_000008.11:47960066:G:A p.(Ser20=) NC_000008.11:47960066:G:A Identity +NM_006231.4:c.6102C>A NP_006222.2:p.Ser2034= NC_000012.12:132632697:G:T p.(Ser2034=) NC_000012.12:132632697:G:T p.(Ser2034=) NC_000012.12:132632697:G:T Identity +NM_000251.3:c.1216C>A NP_000242.1:p.Arg406= NC_000002.12:47429880:C:A p.(Arg406=) NC_000002.12:47429880:C:A p.(Arg406=) NC_000002.12:47429880:C:A Identity +NM_199420.4:c.6120T>C NP_955452.3:p.His2040= NC_000003.12:121481662:A:G p.(His2040=) NC_000003.12:121481662:A:G p.(His2040=) NC_000003.12:121481662:A:G Identity +NM_000057.4:c.612A>T NP_000048.1:p.Val204= NC_000015.10:90749879:A:T p.(Val204=) NC_000015.10:90749879:A:T p.(Val204=) NC_000015.10:90749879:A:T Identity +NM_001317184.2:c.612C>A NP_001304113.1:p.Val204= NC_000016.10:68808772:C:A p.(Val204=) NC_000016.10:68808772:C:A p.(Val204=) NC_000016.10:68808772:C:A Identity +NM_001378969.1:c.612G>C NP_001365898.1:p.Thr204= NC_000001.11:111982114:C:G p.(Thr204=) NC_000001.11:111982114:C:G p.(Thr204=) NC_000001.11:111982114:C:G Identity +NM_199420.4:c.6144G>T NP_955452.3:p.Val2048= NC_000003.12:121481638:C:A p.(Val2048=) NC_000003.12:121481638:C:A p.(Val2048=) NC_000003.12:121481638:C:A Identity +NM_001365276.2:c.6156G>A NP_001352205.1:p.Lys2052= NC_000006.12:32068453:C:T p.(Lys2052=) NC_000006.12:32068453:C:T p.(Lys2052=) NC_000006.12:32068453:C:T Identity +NM_003924.4:c.615C>T NP_003915.2:p.Thr205= NC_000004.12:41746136:G:A p.(Thr205=) NC_000004.12:41746136:G:A p.(Thr205=) NC_000004.12:41746136:G:A Identity +NM_005502.4:c.6180C>T NP_005493.2:p.Ile2060= NC_000009.12:104787943:G:A p.(Ile2060=) NC_000009.12:104787943:G:A p.(Ile2060=) NC_000009.12:104787943:G:A Identity +NM_198578.4:c.6189C>G NP_940980.4:p.Leu2063= NC_000012.12:40346831:C:G p.(Leu2063=) NC_000012.12:40346831:C:G p.(Leu2063=) NC_000012.12:40346831:C:G Identity +NM_001256850.1:c.84216T>A NP_001243779.1:p.Ala28072= NC_000002.12:178553971:A:T p.(Ala28072=) NC_000002.12:178553971:A:T p.(Ala28072=) NC_000002.12:178553971:A:T Identity +NM_001148.6:c.6207T>C NP_001139.3:p.Arg2069= NC_000004.12:113354824:T:C p.(Arg2069=) NC_000004.12:113354824:T:C p.(Arg2069=) NC_000004.12:113354824:T:C Identity +NM_000059.4:c.6213T>C NP_000050.3:p.Ser2071= NC_000013.11:32340567:T:C p.(Ser2071=) NC_000013.11:32340567:T:C p.(Ser2071=) NC_000013.11:32340567:T:C Identity +NM_001282386.1:c.1218G>A NP_001269315.1:p.Lys406= NC_000002.12:208237105:C:T p.(Lys406=) NC_000002.12:208237105:C:T p.(Lys406=) NC_000002.12:208237105:C:T Identity +NM_001184.4:c.6222A>G NP_001175.2:p.Arg2074= NC_000003.12:142470182:T:C p.(Arg2074=) NC_000003.12:142470182:T:C p.(Arg2074=) NC_000003.12:142470182:T:C Identity +NM_000136.3:c.624A>T NP_000127.2:p.Gly208= NC_000009.12:95149984:T:A p.(Gly208=) NC_000009.12:95149984:T:A p.(Gly208=) NC_000009.12:95149984:T:A Identity +NM_016204.4:c.630C>T NP_057288.1:p.Ala210= NC_000010.11:47325123:C:T p.(Ala210=) NC_000010.11:47325123:C:T p.(Ala210=) NC_000010.11:47325123:C:T Identity +NM_001184.4:c.6330C>T NP_001175.2:p.Ser2110= NC_000003.12:142469558:G:A p.(Ser2110=) NC_000003.12:142469558:G:A p.(Ser2110=) NC_000003.12:142469558:G:A Identity +NM_005120.3:c.6330ACAGCAACA[3] NP_005111.2:p.Gln2115_His2116insGlnGlnGln NC_000023.11:71141289:CAACAGCAACAACAGCAACA:CAACAGCAACAACAGCAACAACAGCAACA p.(Gln2113_Gln2115dup) NC_000023.11:71141291:A:ACAGCAACAACAGCAACAACAGCAACA ERR:Parse ERR:Parse Analogous +NM_005502.4:c.6354C>T NP_005493.2:p.Val2118= NC_000009.12:104786344:G:A p.(Val2118=) NC_000009.12:104786344:G:A p.(Val2118=) NC_000009.12:104786344:G:A Identity +NM_001128844.3:c.636G>T NP_001122316.1:p.Gly212= NC_000019.10:10986468:G:T p.(Gly212=) NC_000019.10:10986468:G:T p.(Gly212=) NC_000019.10:10986468:G:T Identity +NM_001256849.1:c.1221C>A NP_001243778.1:p.Ile407= NC_000019.10:50403575:C:A p.(Ile407=) NC_000019.10:50403575:C:A p.(Ile407=) NC_000019.10:50403575:C:A Identity +NM_001081640.2:c.6384C>T NP_001075109.1:p.Phe2128= NC_000008.11:47858596:G:A p.(Phe2128=) NC_000008.11:47858596:G:A p.(Phe2128=) NC_000008.11:47858596:G:A Identity +NM_001014794.3:c.639G>A NP_001014794.1:p.Gln213= NC_000011.10:6609318:G:A p.(Gln213=) NC_000011.10:6609318:G:A p.(Gln213=) NC_000011.10:6609318:G:A Identity +NM_001410772.1:c.639T>C NP_001397701.1:p.Arg213= NC_000003.12:52406848:A:G p.(Arg213=) NC_000003.12:52406848:A:G p.(Arg213=) NC_000003.12:52406848:A:G Identity +NM_001193376.3:c.640C>T NP_001180305.1:p.Leu214= NC_000005.10:1294245:G:A p.(Leu214=) NC_000005.10:1294245:G:A p.(Leu214=) NC_000005.10:1294245:G:A Identity +NM_001256850.1:c.86383C>A NP_001243779.1:p.Arg28795= NC_000002.12:178551224:G:T p.(Arg28795=) NC_000002.12:178551224:G:T p.(Arg28795=) NC_000002.12:178551224:G:T Identity +NM_198578.4:c.6429C>A NP_940980.4:p.Arg2143= NC_000012.12:40351585:C:A p.(Arg2143=) NC_000012.12:40351585:C:A p.(Arg2143=) NC_000012.12:40351585:C:A Identity +NM_003924.4:c.642C>A NP_003915.2:p.Gly214= NC_000004.12:41746109:G:T p.(Gly214=) NC_000004.12:41746109:G:T p.(Gly214=) NC_000004.12:41746109:G:T Identity +NM_000364.4:c.663G>A NP_000355.2:p.Glu221= NC_000001.11:201361959:C:T p.(Glu221=) NC_000001.11:201361959:C:T p.(Glu221=) NC_000001.11:201361959:C:T Identity +NM_001082486.2:c.384G>A NP_001075955.2:p.Thr128= NC_000016.10:67659565:C:T p.(Thr128=) NC_000016.10:67659565:C:T p.(Thr128=) NC_000016.10:67659565:C:T Identity +NM_001014431.2:c.642G>A NP_001014431.1:p.Lys214= NC_000014.9:104773971:C:T p.(Lys214=) NC_000014.9:104773971:C:T p.(Lys214=) NC_000014.9:104773971:C:T Identity +NM_199420.4:c.6484A>C NP_955452.3:p.Arg2162= NC_000003.12:121473408:T:G p.(Arg2162=) NC_000003.12:121473408:T:G p.(Arg2162=) NC_000003.12:121473408:T:G Identity +NM_003079.5:c.648G>A NP_003070.3:p.Arg216= NC_000017.11:40632260:C:T p.(Arg216=) NC_000017.11:40632260:C:T p.(Arg216=) NC_000017.11:40632260:C:T Identity +NM_024642.5:c.648G>T NP_078918.3:p.Ala216= NC_000009.12:98826857:G:T p.(Ala216=) NC_000009.12:98826857:G:T p.(Ala216=) NC_000009.12:98826857:G:T Identity +NM_001868.4:c.1224G>A NP_001859.1:p.Leu408= NC_000007.14:130387974:G:A p.(Leu408=) NC_000007.14:130387974:G:A p.(Leu408=) NC_000007.14:130387974:G:A Identity +NM_003036.4:c.651C>T NP_003027.1:p.Ser217= NC_000001.11:2229416:C:T p.(Ser217=) NC_000001.11:2229416:C:T p.(Ser217=) NC_000001.11:2229416:C:T Identity +NM_001040113.2:c.672G>A NP_001035202.1:p.Gln224= NC_000016.10:15782459:C:T p.(Gln224=) NC_000016.10:15782459:C:T p.(Gln224=) NC_000016.10:15782459:C:T Identity +NM_001377260.1:c.654C>G NP_001364189.1:p.Thr218= NC_000001.11:231421234:G:C p.(Thr218=) NC_000001.11:231421234:G:C p.(Thr218=) NC_000001.11:231421234:G:C Identity +NM_001211.6:c.654G>A NP_001202.5:p.Glu218= NC_000015.10:40183785:G:A p.(Glu218=) NC_000015.10:40183785:G:A p.(Glu218=) NC_000015.10:40183785:G:A Identity +NM_001379277.1:c.1230A>T NP_001366206.1:p.Arg410= NC_000007.14:92070981:A:T p.(Arg410=) NC_000007.14:92070981:A:T p.(Arg410=) NC_000007.14:92070981:A:T Identity +NM_017780.4:c.6597C>T NP_060250.2:p.Ser2199= NC_000008.11:60853321:C:T p.(Ser2199=) NC_000008.11:60853321:C:T p.(Ser2199=) NC_000008.11:60853321:C:T Identity +NM_001365684.2:c.5733T>C NP_001352613.2:p.Cys1911= NC_000005.10:177293973:T:C p.(Cys1911=) NC_000005.10:177293973:T:C p.(Cys1911=) NC_000005.10:177293973:T:C Identity +NM_006767.4:c.660G>A NP_006758.2:p.Gln220= NC_000022.11:20990393:G:A p.(Gln220=) NC_000022.11:20990393:G:A p.(Gln220=) NC_000022.11:20990393:G:A Identity +NM_001430.5:c.1227C>T NP_001421.2:p.Asp409= NC_000002.12:46376730:C:T p.(Asp409=) NC_000002.12:46376730:C:T p.(Asp409=) NC_000002.12:46376730:C:T Identity +NM_001407455.1:c.6372A>C NP_001394384.1:p.Ser2124= NC_000005.10:112842214:A:C p.(Ser2124=) NC_000005.10:112842214:A:C p.(Ser2124=) NC_000005.10:112842214:A:C Identity +NM_020774.4:c.663C>T NP_065825.1:p.Ala221= NC_000018.10:21778128:C:T p.(Ala221=) NC_000018.10:21778128:C:T p.(Ala221=) NC_000018.10:21778128:C:T Identity +NM_001365276.2:c.6669T>C NP_001352205.1:p.His2223= NC_000006.12:32064992:A:G p.(His2223=) NC_000006.12:32064992:A:G p.(His2223=) NC_000006.12:32064992:A:G Identity +NM_002432.3:c.666A>G NP_002423.1:p.Pro222= NC_000001.11:158845681:A:G p.(Pro222=) NC_000001.11:158845681:A:G p.(Pro222=) NC_000001.11:158845681:A:G Identity +NM_000400.4:c.666C>T NP_000391.1:p.Ser222= NC_000019.10:45364475:G:A p.(Ser222=) NC_000019.10:45364475:G:A p.(Ser222=) NC_000019.10:45364475:G:A Identity +NM_000068.4:c.6687C>G NP_000059.3:p.Pro2229= NC_000019.10:13208866:G:C p.(Pro2229=) NC_000019.10:13208866:G:C p.(Pro2229=) NC_000019.10:13208866:G:C Identity +NM_017617.5:c.6687G>A NP_060087.3:p.Val2229= NC_000009.12:136497051:C:T p.(Val2229=) NC_000009.12:136497051:C:T p.(Val2229=) NC_000009.12:136497051:C:T Identity +NM_001013406.2:c.1084T>C NP_001013424.1:p.Leu362= NC_000007.14:92225745:A:G p.(Leu362=) NC_000007.14:92225745:A:G p.(Leu362=) NC_000007.14:92225745:A:G Identity +NM_001142571.2:c.729C>A NP_001136043.1:p.Gly243= NC_000017.11:35103322:G:T p.(Gly243=) NC_000017.11:35103322:G:T p.(Gly243=) NC_000017.11:35103322:G:T Identity +NM_199420.4:c.6705G>A NP_955452.3:p.Ser2235= NC_000003.12:121472002:C:T p.(Ser2235=) NC_000003.12:121472002:C:T p.(Ser2235=) NC_000003.12:121472002:C:T Identity +NM_198578.4:c.6714A>G NP_940980.4:p.Leu2238= NC_000012.12:40354435:A:G p.(Leu2238=) NC_000012.12:40354435:A:G p.(Leu2238=) NC_000012.12:40354435:A:G Identity +NM_001256850.1:c.6870A>T NP_001243779.1:p.Val2290= NC_000002.12:178774393:T:A p.(Val2290=) NC_000002.12:178774393:T:A p.(Val2290=) NC_000002.12:178774393:T:A Identity +NM_000400.4:c.675G>A NP_000391.1:p.Leu225= NC_000019.10:45364466:C:T p.(Leu225=) NC_000019.10:45364466:C:T p.(Leu225=) NC_000019.10:45364466:C:T Identity +NM_014908.4:c.1230C>T NP_055723.1:p.Tyr410= NC_000009.12:128946073:G:A p.(Tyr410=) NC_000009.12:128946073:G:A p.(Tyr410=) NC_000009.12:128946073:G:A Identity +NM_001377260.1:c.678G>A NP_001364189.1:p.Val226= NC_000001.11:231421210:C:T p.(Val226=) NC_000001.11:231421210:C:T p.(Val226=) NC_000001.11:231421210:C:T Identity +NM_000323.2:c.1230C>T NP_000314.1:p.Leu410= NC_000010.11:43109196:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_006231.4:c.6807C>T NP_006222.2:p.Tyr2269= NC_000012.12:132624750:G:A p.(Tyr2269=) NC_000012.12:132624750:G:A p.(Tyr2269=) NC_000012.12:132624750:G:A Identity +NM_012186.3:c.681G>A NP_036318.1:p.Pro227= NC_000001.11:47416995:G:A p.(Pro227=) NC_000001.11:47416995:G:A p.(Pro227=) NC_000001.11:47416995:G:A Identity +NM_000059.4:c.6835T>C NP_000050.3:p.Leu2279= NC_000013.11:32341189:T:C p.(Leu2279=) NC_000013.11:32341189:T:C p.(Leu2279=) NC_000013.11:32341189:T:C Identity +NM_017617.5:c.6861C>T NP_060087.3:p.Gly2287= NC_000009.12:136496877:G:A p.(Gly2287=) NC_000009.12:136496877:G:A p.(Gly2287=) NC_000009.12:136496877:G:A Identity +NM_198578.4:c.6864G>A NP_940980.4:p.Leu2288= NC_000012.12:40359279:G:A p.(Leu2288=) NC_000012.12:40359279:G:A p.(Leu2288=) NC_000012.12:40359279:G:A Identity +NM_001081640.2:c.6867C>T NP_001075109.1:p.Asp2289= NC_000008.11:47854108:G:A p.(Asp2289=) NC_000008.11:47854108:G:A p.(Asp2289=) NC_000008.11:47854108:G:A Identity +NM_001365276.2:c.6876G>A NP_001352205.1:p.Ser2292= NC_000006.12:32062448:C:T p.(Ser2292=) NC_000006.12:32062448:C:T p.(Ser2292=) NC_000006.12:32062448:C:T Identity +NM_001346599.2:c.453A>G NP_001333528.1:p.Thr151= NC_000007.14:105547080:A:G p.(Thr151=) NC_000007.14:105547080:A:G p.(Thr151=) NC_000007.14:105547080:A:G Identity +NM_001868.4:c.687G>T NP_001859.1:p.Thr229= NC_000007.14:130383784:G:T p.(Thr229=) NC_000007.14:130383784:G:T p.(Thr229=) NC_000007.14:130383784:G:T Identity +NM_002439.5:c.687T>C NP_002430.3:p.Tyr229= NC_000005.10:80670203:T:C p.(Tyr229=) NC_000005.10:80670203:T:C p.(Tyr229=) NC_000005.10:80670203:T:C Identity +NM_001282403.2:c.564C>A NP_001269332.1:p.Ile188= NC_000007.14:76064394:C:A p.(Ile188=) NC_000007.14:76064394:C:A p.(Ile188=) NC_000007.14:76064394:C:A Identity +NM_199420.4:c.6918A>G NP_955452.3:p.Arg2306= NC_000003.12:121467567:T:C p.(Arg2306=) NC_000003.12:121467567:T:C p.(Arg2306=) NC_000003.12:121467567:T:C Identity +NM_199420.4:c.6943C>A NP_955452.3:p.Arg2315= NC_000003.12:121467542:G:T p.(Arg2315=) NC_000003.12:121467542:G:T p.(Arg2315=) NC_000003.12:121467542:G:T Identity +NM_030777.4:c.696C>T NP_110404.1:p.Thr232= NC_000020.11:46725731:C:T p.(Thr232=) NC_000020.11:46725731:C:T p.(Thr232=) NC_000020.11:46725731:C:T Identity +NM_001321307.1:c.699A>G NP_001308236.1:p.Gln233= NC_000011.10:108186508:T:C p.(Gln233=) NC_000011.10:108186508:T:C p.(Gln233=) NC_000011.10:108186508:T:C Identity +NM_001040633.2:c.567G>T NP_001035723.1:p.Ala189= NC_000007.14:151632123:C:A p.(Ala189=) NC_000007.14:151632123:C:A p.(Ala189=) NC_000007.14:151632123:C:A Identity +NM_001142548.2:c.69A>G NP_001136020.1:p.Glu23= NC_000001.11:46248576:A:G p.(Glu23=) NC_000001.11:46248576:A:G p.(Glu23=) NC_000001.11:46248576:A:G Identity +NM_001195573.1:c.69A>G NP_001182502.1:p.Pro23= NC_000014.9:95133389:T:C p.(Pro23=) NC_000014.9:95133389:T:C p.(Pro23=) NC_000014.9:95133389:T:C Identity +NM_001321307.1:c.69C>A NP_001308236.1:p.Thr23= NC_000011.10:108197388:G:T p.(Thr23=) NC_000011.10:108197388:G:T p.(Thr23=) NC_000011.10:108197388:G:T Identity +NM_001040151.2:c.69C>T NP_001035241.1:p.Phe23= NC_000011.10:123645736:G:A p.(Phe23=) NC_000011.10:123645736:G:A p.(Phe23=) NC_000011.10:123645736:G:A Identity +NM_007272.3:c.69G>T NP_009203.2:p.Pro23= NC_000001.11:15440327:G:T p.(Pro23=) NC_000001.11:15440327:G:T p.(Pro23=) NC_000001.11:15440327:G:T Identity +NM_053046.4:c.6C>T NP_444274.1:p.Asp2= NC_000019.10:40800577:C:T p.(Asp2=) NC_000019.10:40800577:C:T p.(Asp2=) NC_000019.10:40800577:C:T Identity +NM_001792.5:c.6C>T NP_001783.2:p.Cys2= NC_000018.10:28177016:G:A p.(Cys2=) NC_000018.10:28177016:G:A p.(Cys2=) NC_000018.10:28177016:G:A Identity +NM_000527.5:c.6G>A NP_000518.1:p.Gly2= NC_000019.10:11089553:G:A p.(Gly2=) NC_000019.10:11089553:G:A p.(Gly2=) NC_000019.10:11089553:G:A Identity +NM_000722.4:c.6T>G NP_000713.2:p.Ala2= NC_000007.14:82443453:A:C p.(Ala2=) NC_000007.14:82443453:A:C p.(Ala2=) NC_000007.14:82443453:A:C Identity +NM_000546.6:c.700_708del NP_000537.3:p.Tyr234_Tyr236del NC_000017.11:7674254:GTAGTTGTAGT:GT p.(Tyr234_Tyr236del) NC_000017.11:7674254:GTAGTTGTAGT:GT p.(Tyr234_Tyr236del) NC_000017.11:7674254:GTAGTTGTA: Identity +NM_000202.8:c.701_705delinsG NP_000193.1:p.Arg233_Tyr234insTer NC_000023.11:149498109:GGGGT:C p.(Tyr234Ter) NC_000023.11:149498108:TGGGGT:TC p.(Tyr234Ter) NC_000023.11:149498109:GGGGT:C Analogous +NM_001134363.3:c.705C>T NP_001127835.2:p.Ser235= NC_000010.11:110781313:C:T p.(Ser235=) NC_000010.11:110781313:C:T p.(Ser235=) NC_000010.11:110781313:C:T Identity +NM_000245.4:c.705T>A NP_000236.2:p.Ile235= NC_000007.14:116699788:T:A p.(Ile235=) NC_000007.14:116699788:T:A p.(Ile235=) NC_000007.14:116699788:T:A Identity +NM_006218.4:c.715C>T NP_006209.2:p.Leu239= NC_000003.12:179201441:C:T p.(Leu239=) NC_000003.12:179201441:C:T p.(Leu239=) NC_000003.12:179201441:C:T Identity +NM_001407296.1:c.657A>G NP_001394225.1:p.Arg219= NC_000016.10:23635828:T:C p.(Arg219=) NC_000016.10:23635828:T:C p.(Arg219=) NC_000016.10:23635828:T:C Identity +NM_007272.3:c.717C>T NP_009203.2:p.Ser239= NC_000001.11:15445673:C:T p.(Ser239=) NC_000001.11:15445673:C:T p.(Ser239=) NC_000001.11:15445673:C:T Identity +NM_003036.4:c.717C>T NP_003027.1:p.Ser239= NC_000001.11:2229482:C:T p.(Ser239=) NC_000001.11:2229482:C:T p.(Ser239=) NC_000001.11:2229482:C:T Identity +NM_001114107.5:c.577C>A NP_001107579.1:p.Arg193= NC_000004.12:185506593:G:T p.(Arg193=) NC_000004.12:185506593:G:T p.(Arg193=) NC_000004.12:185506593:G:T Identity +NM_007272.3:c.721C>A NP_009203.2:p.Arg241= NC_000001.11:15445677:C:A p.(Arg241=) NC_000001.11:15445677:C:A p.(Arg241=) NC_000001.11:15445677:C:A Identity +NM_005477.3:c.123A>G NP_005468.1:p.Gln41= NC_000015.10:73368147:T:C p.(Gln41=) NC_000015.10:73368147:T:C p.(Gln41=) NC_000015.10:73368147:T:C Identity +NM_199420.4:c.7221T>C NP_955452.3:p.Asn2407= NC_000003.12:121449357:A:G p.(Asn2407=) NC_000003.12:121449357:A:G p.(Asn2407=) NC_000003.12:121449357:A:G Identity +NM_017617.5:c.7227GCC[3] NP_060087.3:p.Pro2415_Gln2416insPro NC_000009.12:136496506:GGCGGC:GGCGGCGGC p.(Pro2415dup) NC_000009.12:136496511:C:GGCGGCGGC ERR:Parse ERR:Parse Analogous +NM_003924.4:c.723A>C NP_003915.2:p.Ala241= NC_000004.12:41746028:T:G p.(Ala241=) NC_000004.12:41746028:T:G p.(Ala241=) NC_000004.12:41746028:T:G Identity +NM_000192.3:c.723C>T NP_000183.2:p.Asp241= NC_000012.12:114385507:G:A p.(Asp241=) NC_000012.12:114385507:G:A p.(Asp241=) NC_000012.12:114385507:G:A Identity +NM_199420.4:c.7263A>G NP_955452.3:p.Thr2421= NC_000003.12:121449315:T:C p.(Thr2421=) NC_000003.12:121449315:T:C p.(Thr2421=) NC_000003.12:121449315:T:C Identity +NM_003079.5:c.726A>G NP_003070.3:p.Glu242= NC_000017.11:40631681:T:C p.(Glu242=) NC_000017.11:40631681:T:C p.(Glu242=) NC_000017.11:40631681:T:C Identity +NM_002769.5:c.123G>C NP_002760.1:p.Leu41= NC_000007.14:142750636:G:C p.(Leu41=) NC_000007.14:142750636:G:C p.(Leu41=) NC_000007.14:142750636:G:C Identity +NM_000323.2:c.72A>G NP_000314.1:p.Lys24= NC_000010.11:43077329:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000335.5:c.732C>T NP_000326.2:p.Ile244= NC_000003.12:38609935:G:A p.(Ile244=) NC_000003.12:38609935:G:A p.(Ile244=) NC_000003.12:38609935:G:A Identity +NM_001289396.2:c.732G>A NP_001276325.1:p.Pro244= NC_000009.12:2039841:G:A p.(Pro244=) NC_000009.12:2039841:G:A p.(Pro244=) NC_000009.12:2039841:G:A Identity +NM_001142548.2:c.732T>C NP_001136020.1:p.Asp244= NC_000001.11:46260980:T:C p.(Asp244=) NC_000001.11:46260980:T:C p.(Asp244=) NC_000001.11:46260980:T:C Identity +NM_199420.4:c.7365C>T NP_955452.3:p.Asp2455= NC_000003.12:121440015:G:A p.(Asp2455=) NC_000003.12:121440015:G:A p.(Asp2455=) NC_000003.12:121440015:G:A Identity +NM_001256850.1:c.96051G>C NP_001243779.1:p.Gly32017= NC_000002.12:178535640:C:G p.(Gly32017=) NC_000002.12:178535640:C:G p.(Gly32017=) NC_000002.12:178535640:C:G Identity +NM_004444.5:c.738C>T NP_004435.3:p.Ala246= NC_000007.14:100822340:G:A p.(Ala246=) NC_000007.14:100822340:G:A p.(Ala246=) NC_000007.14:100822340:G:A Identity +NM_000249.4:c.741C>A NP_000240.1:p.Ser247= NC_000003.12:37014494:C:A p.(Ser247=) NC_000003.12:37014494:C:A p.(Ser247=) NC_000003.12:37014494:C:A Identity +NM_030777.4:c.741G>A NP_110404.1:p.Gln247= NC_000020.11:46725776:G:A p.(Gln247=) NC_000020.11:46725776:G:A p.(Gln247=) NC_000020.11:46725776:G:A Identity +NM_052947.4:c.744C>T NP_443179.3:p.Asn248= NC_000018.10:58580031:G:A p.(Asn248=) NC_000018.10:58580031:G:A p.(Asn248=) NC_000018.10:58580031:G:A Identity +NM_001377260.1:c.744C>T NP_001364189.1:p.Ser248= NC_000001.11:231421144:G:A p.(Ser248=) NC_000001.11:231421144:G:A p.(Ser248=) NC_000001.11:231421144:G:A Identity +NM_001278616.2:c.687T>C NP_001265545.1:p.Phe229= NC_000002.12:110667578:A:G p.(Phe229=) NC_000002.12:110667578:A:G p.(Phe229=) NC_000002.12:110667578:A:G Identity +NM_000535.7:c.750C>A NP_000526.2:p.Ser250= NC_000007.14:5997378:G:T p.(Ser250=) NC_000007.14:5997378:G:T p.(Ser250=) NC_000007.14:5997378:G:T Identity +NM_001148.6:c.7516C>A NP_001139.3:p.Arg2506= NC_000004.12:113356133:C:A p.(Arg2506=) NC_000004.12:113356133:C:A p.(Arg2506=) NC_000004.12:113356133:C:A Identity +NM_000527.5:c.753C>T NP_000518.1:p.Gly251= NC_000019.10:11106622:C:T p.(Gly251=) NC_000019.10:11106622:C:T p.(Gly251=) NC_000019.10:11106622:C:T Identity +NM_000059.4:c.7545A>T NP_000050.3:p.Thr2515= NC_000013.11:32356536:A:T p.(Thr2515=) NC_000013.11:32356536:A:T p.(Thr2515=) NC_000013.11:32356536:A:T Identity +NM_000702.4:c.756C>A NP_000693.1:p.Ala252= NC_000001.11:160127558:C:A p.(Ala252=) NC_000001.11:160127558:C:A p.(Ala252=) NC_000001.11:160127558:C:A Identity +NM_000136.3:c.759A>G NP_000127.2:p.Ala253= NC_000009.12:95135429:T:C p.(Ala253=) NC_000009.12:95135429:T:C p.(Ala253=) NC_000009.12:95135429:T:C Identity +NM_198578.4:c.759G>T NP_940980.4:p.Val253= NC_000012.12:40243601:G:T p.(Val253=) NC_000012.12:40243601:G:T p.(Val253=) NC_000012.12:40243601:G:T Identity +NM_000975.5:c.75T>C NP_000966.2:p.Cys25= NC_000001.11:23692676:T:C p.(Cys25=) NC_000001.11:23692676:T:C p.(Cys25=) NC_000001.11:23692676:T:C Identity +NM_001082486.2:c.502C>T NP_001075955.2:p.Leu168= NC_000016.10:67659070:G:A p.(Leu168=) NC_000016.10:67659070:G:A p.(Leu168=) NC_000016.10:67659070:G:A Identity +NM_006767.4:c.762C>T NP_006758.2:p.Asn254= NC_000022.11:20990495:C:T p.(Asn254=) NC_000022.11:20990495:C:T p.(Asn254=) NC_000022.11:20990495:C:T Identity +NM_007272.3:c.762G>C NP_009203.2:p.Arg254= NC_000001.11:15445718:G:C p.(Arg254=) NC_000001.11:15445718:G:C p.(Arg254=) NC_000001.11:15445718:G:C Identity +NM_001114121.2:c.762T>A NP_001107593.1:p.Ile254= NC_000011.10:125637491:T:A p.(Ile254=) NC_000011.10:125637491:T:A p.(Ile254=) NC_000011.10:125637491:T:A Identity +NM_000038.6:c.7647T>A NP_000029.2:p.Arg2549= NC_000005.10:112843240:T:A p.(Arg2549=) NC_000005.10:112843240:T:A p.(Arg2549=) NC_000005.10:112843240:T:A Identity +NM_001282403.2:c.639C>T NP_001269332.1:p.Gly213= NC_000007.14:76064832:C:T p.(Gly213=) NC_000007.14:76064832:C:T p.(Gly213=) NC_000007.14:76064832:C:T Identity +NM_001164269.2:c.768C>T NP_001157741.1:p.Leu256= NC_000015.10:40729624:C:T p.(Leu256=) NC_000015.10:40729624:C:T p.(Leu256=) NC_000015.10:40729624:C:T Identity +NM_020433.5:c.765G>T NP_065166.2:p.Ser255= NC_000020.11:44160021:C:A p.(Ser255=) NC_000020.11:44160021:C:A p.(Ser255=) NC_000020.11:44160021:C:A Identity +NM_000059.4:c.7671A>C NP_000050.3:p.Ala2557= NC_000013.11:32357794:A:C p.(Ala2557=) NC_000013.11:32357794:A:C p.(Ala2557=) NC_000013.11:32357794:A:C Identity +NM_000244.4:c.784C>T NP_000235.3:p.Leu262= NC_000011.10:64807565:G:A p.(Leu262=) NC_000011.10:64807565:G:A p.(Leu262=) NC_000011.10:64807565:G:A Identity +NM_001081640.2:c.7707C>T NP_001075109.1:p.Ser2569= NC_000008.11:47837265:G:A p.(Ser2569=) NC_000008.11:47837265:G:A p.(Ser2569=) NC_000008.11:47837265:G:A Identity +NM_001256850.1:c.99360G>A NP_001243779.1:p.Arg33120= NC_000002.12:178532331:C:T p.(Arg33120=) NC_000002.12:178532331:C:T p.(Arg33120=) NC_000002.12:178532331:C:T Identity +NM_001379200.1:c.798G>A NP_001366129.1:p.Glu266= NC_000022.11:19765043:G:A p.(Glu266=) NC_000022.11:19765043:G:A p.(Glu266=) NC_000022.11:19765043:G:A Identity +NM_005585.5:c.771T>C NP_005576.3:p.Pro257= NC_000015.10:66704028:T:C p.(Pro257=) NC_000015.10:66704028:T:C p.(Pro257=) NC_000015.10:66704028:T:C Identity +NM_001082486.2:c.514C>T NP_001075955.2:p.Leu172= NC_000016.10:67659058:G:A p.(Leu172=) NC_000016.10:67659058:G:A p.(Leu172=) NC_000016.10:67659058:G:A Identity +NM_001290307.3:c.774A>C NP_001277236.1:p.Ala258= NC_000005.10:138824714:A:C p.(Ala258=) NC_000005.10:138824714:A:C p.(Ala258=) NC_000005.10:138824714:A:C Identity +NM_020774.4:c.774C>T NP_065825.1:p.Leu258= NC_000018.10:21779550:C:T p.(Leu258=) NC_000018.10:21779550:C:T p.(Leu258=) NC_000018.10:21779550:C:T Identity +NM_001079846.1:c.774C>T NP_001073315.1:p.Thr258= NC_000016.10:3850320:G:A p.(Thr258=) NC_000016.10:3850320:G:A p.(Thr258=) NC_000016.10:3850320:G:A Identity +NM_001130144.3:c.775C>T NP_001123616.1:p.Leu259= NC_000011.10:65553789:G:A p.(Leu259=) NC_000011.10:65553789:G:A p.(Leu259=) NC_000011.10:65553789:G:A Identity +NM_001365276.2:c.7800C>T NP_001352205.1:p.Gly2600= NC_000006.12:32058082:G:A p.(Gly2600=) NC_000006.12:32058082:G:A p.(Gly2600=) NC_000006.12:32058082:G:A Identity +NM_000832.7:c.780C>A NP_000823.4:p.Arg260= NC_000009.12:137156776:C:A p.(Arg260=) NC_000009.12:137156776:C:A p.(Arg260=) NC_000009.12:137156776:C:A Identity +NM_001256850.1:c.7950C>T NP_001243779.1:p.Gly2650= NC_000002.12:178771376:G:A p.(Gly2650=) NC_000002.12:178771376:G:A p.(Gly2650=) NC_000002.12:178771376:G:A Identity +NM_000152.5:c.1251C>T NP_000143.2:p.Asn417= NC_000017.11:80108752:C:T p.(Asn417=) NC_000017.11:80108752:C:T p.(Asn417=) NC_000017.11:80108752:C:T Identity +NM_001256850.1:c.100662T>C NP_001243779.1:p.Asp33554= NC_000002.12:178531029:A:G p.(Asp33554=) NC_000002.12:178531029:A:G p.(Asp33554=) NC_000002.12:178531029:A:G Identity +NM_001039885.3:c.786C>T NP_001034974.1:p.Arg262= NC_000019.10:46756235:C:T p.(Arg262=) NC_000019.10:46756235:C:T p.(Arg262=) NC_000019.10:46756235:C:T Identity +NM_002432.3:c.786G>A NP_002423.1:p.Arg262= NC_000001.11:158845801:G:A p.(Arg262=) NC_000001.11:158845801:G:A p.(Arg262=) NC_000001.11:158845801:G:A Identity +NM_001184.4:c.7894T>C NP_001175.2:p.Leu2632= NC_000003.12:142449469:A:G p.(Leu2632=) NC_000003.12:142449469:A:G p.(Leu2632=) NC_000003.12:142449469:A:G Identity +NM_001317184.2:c.789C>A NP_001304113.1:p.Thr263= NC_000016.10:68810297:C:A p.(Thr263=) NC_000016.10:68810297:C:A p.(Thr263=) NC_000016.10:68810297:C:A Identity +NM_003924.4:c.789G>C NP_003915.2:p.Leu263= NC_000004.12:41745962:C:G p.(Leu263=) NC_000004.12:41745962:C:G p.(Leu263=) NC_000004.12:41745962:C:G Identity +NM_000059.4:c.7920G>A NP_000050.3:p.Lys2640= NC_000013.11:32362636:G:A p.(Lys2640=) NC_000013.11:32362636:G:A p.(Lys2640=) NC_000013.11:32362636:G:A Identity +NM_001282386.1:c.792C>T NP_001269315.1:p.Gly264= NC_000002.12:208242051:G:A p.(Gly264=) NC_000002.12:208242051:G:A p.(Gly264=) NC_000002.12:208242051:G:A Identity +NM_001293306.2:c.792G>A NP_001280235.2:p.Gly264= NC_000003.12:38761282:C:T p.(Gly264=) NC_000003.12:38761282:C:T p.(Gly264=) NC_000003.12:38761282:C:T Identity +NM_001308176.2:c.1161A>G NP_001295105.1:p.Ala387= NC_000018.10:27992744:T:C p.(Ala387=) NC_000018.10:27992744:T:C p.(Ala387=) NC_000018.10:27992744:T:C Identity +NM_001184.4:c.795A>G NP_001175.2:p.Pro265= NC_000003.12:142562606:T:C p.(Pro265=) NC_000003.12:142562606:T:C p.(Pro265=) NC_000003.12:142562606:T:C Identity +NM_001024688.3:c.549T>C NP_001019859.1:p.Ala183= NC_000008.11:89970464:A:G p.(Ala183=) NC_000008.11:89970464:A:G p.(Ala183=) NC_000008.11:89970464:A:G Identity +NM_001193416.3:c.798C>T NP_001180345.1:p.Tyr266= NC_000023.11:41344061:C:T p.(Tyr266=) NC_000023.11:41344061:C:T p.(Tyr266=) NC_000023.11:41344061:C:T Identity +NM_001346599.2:c.565C>T NP_001333528.1:p.Leu189= NC_000007.14:105547292:C:T p.(Leu189=) NC_000007.14:105547292:C:T p.(Leu189=) NC_000007.14:105547292:C:T Identity +NM_001293306.2:c.801C>T NP_001280235.2:p.Leu267= NC_000003.12:38761273:G:A p.(Leu267=) NC_000003.12:38761273:G:A p.(Leu267=) NC_000003.12:38761273:G:A Identity +NM_001407361.1:c.747delG NP_001394290.1:p.Met251Terfs NC_000001.11:17018922:C: p.(Met251Ter) NC_000001.11:17018922:C: p.(Met251Ter) NC_000001.11:17018922:C: Analogous +NM_001256850.1:c.102618A>G NP_001243779.1:p.Lys34206= NC_000002.12:178527584:T:C p.(Lys34206=) NC_000002.12:178527584:T:C p.(Lys34206=) NC_000002.12:178527584:T:C Identity +NM_001098623.2:c.8079C>T NP_001092093.2:p.Asp2693= NC_000001.11:228280677:C:T p.(Asp2693=) NC_000001.11:228280677:C:T p.(Asp2693=) NC_000001.11:228280677:C:T Identity +NM_001142548.2:c.807C>T NP_001136020.1:p.Pro269= NC_000001.11:46261300:C:T p.(Pro269=) NC_000001.11:46261300:C:T p.(Pro269=) NC_000001.11:46261300:C:T Identity +NM_006231.4:c.813T>G NP_006222.2:p.Val271= NC_000012.12:132676641:A:C p.(Val271=) NC_000012.12:132676641:A:C p.(Val271=) NC_000012.12:132676641:A:C Identity +NM_001148.6:c.8157T>C NP_001139.3:p.Thr2719= NC_000004.12:113356774:T:C p.(Thr2719=) NC_000004.12:113356774:T:C p.(Thr2719=) NC_000004.12:113356774:T:C Identity +NM_000719.7:c.819G>A NP_000710.5:p.Leu273= NC_000012.12:2486164:G:A p.(Leu273=) NC_000012.12:2486164:G:A p.(Leu273=) NC_000012.12:2486164:G:A Identity +NM_000136.3:c.81T>A NP_000127.2:p.Thr27= NC_000009.12:95249210:A:T p.(Thr27=) NC_000009.12:95249210:A:T p.(Thr27=) NC_000009.12:95249210:A:T Identity +NM_000264.5:c.822A>G NP_000255.2:p.Gln274= NC_000009.12:95480512:T:C p.(Gln274=) NC_000009.12:95480512:T:C p.(Gln274=) NC_000009.12:95480512:T:C Identity +NM_052947.4:c.825G>A NP_443179.3:p.Pro275= NC_000018.10:58579950:C:T p.(Pro275=) NC_000018.10:58579950:C:T p.(Pro275=) NC_000018.10:58579950:C:T Identity +NM_000075.4:c.831T>C NP_000066.1:p.Thr277= NC_000012.12:57748605:A:G p.(Thr277=) NC_000012.12:57748605:A:G p.(Thr277=) NC_000012.12:57748605:A:G Identity +NM_001142548.2:c.834C>T NP_001136020.1:p.Phe278= NC_000001.11:46261327:C:T p.(Phe278=) NC_000001.11:46261327:C:T p.(Phe278=) NC_000001.11:46261327:C:T Identity +NM_001353229.2:c.888G>C NP_001340158.1:p.Pro296= NC_000017.11:17221573:C:G p.(Pro296=) NC_000017.11:17221573:C:G p.(Pro296=) NC_000017.11:17221573:C:G Identity +NM_000245.4:c.837C>A NP_000236.2:p.Ile279= NC_000007.14:116699920:C:A p.(Ile279=) NC_000007.14:116699920:C:A p.(Ile279=) NC_000007.14:116699920:C:A Identity +NM_001081640.2:c.8406A>G NP_001075109.1:p.Pro2802= NC_000008.11:47828338:T:C p.(Pro2802=) NC_000008.11:47828338:T:C p.(Pro2802=) NC_000008.11:47828338:T:C Identity +NM_001178102.2:c.150C>T NP_001171573.1:p.Ser50= NC_000005.10:122075441:G:A p.(Ser50=) NC_000005.10:122075441:G:A p.(Ser50=) NC_000005.10:122075441:G:A Identity +NM_005431.2:c.840T>C NP_005422.1:p.Cys280= NC_000007.14:152648644:A:G p.(Cys280=) NC_000007.14:152648644:A:G p.(Cys280=) NC_000007.14:152648644:A:G Identity +NM_001379277.1:c.3060A>G NP_001366206.1:p.Gln1020= NC_000007.14:92083423:A:G p.(Gln1020=) NC_000007.14:92083423:A:G p.(Gln1020=) NC_000007.14:92083423:A:G Identity +NM_000251.3:c.1261C>T NP_000242.1:p.Leu421= NC_000002.12:47429925:C:T p.(Leu421=) NC_000002.12:47429925:C:T p.(Leu421=) NC_000002.12:47429925:C:T Identity +NM_000038.6:c.8463C>T NP_000029.2:p.Asp2821= NC_000005.10:112844056:C:T p.(Asp2821=) NC_000005.10:112844056:C:T p.(Asp2821=) NC_000005.10:112844056:C:T Identity +NM_001411065.1:c.705G>A NP_001397994.1:p.Ala235= NC_000015.10:66485144:G:A p.(Ala235=) NC_000015.10:66485144:G:A p.(Ala235=) NC_000015.10:66485144:G:A Identity +NM_000903.3:c.84G>A NP_000894.1:p.Ala28= NC_000016.10:69718457:C:T p.(Ala28=) NC_000016.10:69718457:C:T p.(Ala28=) NC_000016.10:69718457:C:T Identity +NM_001354628.2:c.852G>A NP_001341557.1:p.Leu284= NC_000003.12:37017566:G:A p.(Leu284=) NC_000003.12:37017566:G:A p.(Leu284=) NC_000003.12:37017566:G:A Identity +NM_198578.4:c.855C>T NP_940980.4:p.Ile285= NC_000012.12:40249841:C:T p.(Ile285=) NC_000012.12:40249841:C:T p.(Ile285=) NC_000012.12:40249841:C:T Identity +NM_058216.3:c.855G>A NP_478123.1:p.Gln285= NC_000017.11:58720762:G:A p.(Gln285=) NC_000017.11:58720762:G:A p.(Gln285=) NC_000017.11:58720762:G:A Identity +NM_000059.4:c.8589A>G NP_000050.3:p.Glu2863= NC_000013.11:32371056:A:G p.(Glu2863=) NC_000013.11:32371056:A:G p.(Glu2863=) NC_000013.11:32371056:A:G Identity +NM_001276289.2:c.858A>C NP_001263218.1:p.Gly286= NC_000017.11:68528957:A:C p.(Gly286=) NC_000017.11:68528957:A:C p.(Gly286=) NC_000017.11:68528957:A:C Identity +NM_001304420.3:c.861C>T NP_001291349.1:p.Thr287= NC_000003.12:57861980:C:T p.(Thr287=) NC_000003.12:57861980:C:T p.(Thr287=) NC_000003.12:57861980:C:T Identity +NM_001378969.1:c.864G>A NP_001365898.1:p.Thr288= NC_000001.11:111981862:C:T p.(Thr288=) NC_000001.11:111981862:C:T p.(Thr288=) NC_000001.11:111981862:C:T Identity +NM_001081640.2:c.8673C>G NP_001075109.1:p.Arg2891= NC_000008.11:47826765:G:C p.(Arg2891=) NC_000008.11:47826765:G:C p.(Arg2891=) NC_000008.11:47826765:G:C Identity +NM_001321307.1:c.867G>A NP_001308236.1:p.Thr289= NC_000011.10:108185270:C:T p.(Thr289=) NC_000011.10:108185270:C:T p.(Thr289=) NC_000011.10:108185270:C:T Identity +NM_000268.4:c.1266G>A NP_000259.1:p.Glu422= NC_000022.11:29673411:G:A p.(Glu422=) NC_000022.11:29673411:G:A p.(Glu422=) NC_000022.11:29673411:G:A Identity +NM_001353229.2:c.1320G>C NP_001340158.1:p.Pro440= NC_000017.11:17216413:C:G p.(Pro440=) NC_000017.11:17216413:C:G p.(Pro440=) NC_000017.11:17216413:C:G Identity +NM_000244.4:c.885G>A NP_000235.3:p.Glu295= NC_000011.10:64807052:C:T p.(Glu295=) NC_000011.10:64807052:C:T p.(Glu295=) NC_000011.10:64807052:C:T Identity +NM_001089.3:c.873G>A NP_001080.2:p.Lys291= NC_000016.10:2319580:C:T p.(Lys291=) NC_000016.10:2319580:C:T p.(Lys291=) NC_000016.10:2319580:C:T Identity +NM_000059.4:c.8766T>C NP_000050.3:p.Ser2922= NC_000013.11:32379327:T:C p.(Ser2922=) NC_000013.11:32379327:T:C p.(Ser2922=) NC_000013.11:32379327:T:C Identity +NM_014391.3:c.876G>A NP_055206.2:p.Val292= NC_000010.11:90912949:C:T p.(Val292=) NC_000010.11:90912949:C:T p.(Val292=) NC_000010.11:90912949:C:T Identity +NM_001103.4:c.879T>G NP_001094.1:p.Leu293= NC_000001.11:236739303:T:G p.(Leu293=) NC_000001.11:236739303:T:G p.(Leu293=) NC_000001.11:236739303:T:G Identity +NM_003924.4:c.87C>T NP_003915.2:p.Ala29= NC_000004.12:41748523:G:A p.(Ala29=) NC_000004.12:41748523:G:A p.(Ala29=) NC_000004.12:41748523:G:A Identity +NM_198578.4:c.882T>C NP_940980.4:p.Phe294= NC_000012.12:40249868:T:C p.(Phe294=) NC_000012.12:40249868:T:C p.(Phe294=) NC_000012.12:40249868:T:C Identity +NM_000400.4:c.1269C>T NP_000391.1:p.Asp423= NC_000019.10:45357667:G:A p.(Asp423=) NC_000019.10:45357667:G:A p.(Asp423=) NC_000019.10:45357667:G:A Identity +NM_000059.4:c.10230C>T NP_000050.3:p.Asp3410= NC_000013.11:32398742:C:T p.(Asp3410=) NC_000013.11:32398742:C:T p.(Asp3410=) NC_000013.11:32398742:C:T Identity +NM_001098623.2:c.885G>A NP_001092093.2:p.Val295= NC_000001.11:228212667:G:A p.(Val295=) NC_000001.11:228212667:G:A p.(Val295=) NC_000001.11:228212667:G:A Identity +NM_001377260.1:c.888G>C NP_001364189.1:p.Thr296= NC_000001.11:231421000:C:G p.(Thr296=) NC_000001.11:231421000:C:G p.(Thr296=) NC_000001.11:231421000:C:G Identity +NM_001378454.1:c.123G>C NP_001365383.1:p.Val41= NC_000002.12:73385990:G:C p.(Val41=) NC_000002.12:73385990:G:C p.(Val41=) NC_000002.12:73385990:G:C Identity +NM_003098.3:c.891T>A NP_003089.1:p.Ile297= NC_000020.11:33412592:A:T p.(Ile297=) NC_000020.11:33412592:A:T p.(Ile297=) NC_000020.11:33412592:A:T Identity +NM_001081640.2:c.892T>C NP_001075109.1:p.Leu298= NC_000008.11:47943282:A:G p.(Leu298=) NC_000008.11:47943282:A:G p.(Leu298=) NC_000008.11:47943282:A:G Identity +NM_005477.3:c.897T>C NP_005468.1:p.Asn299= NC_000015.10:73343696:A:G p.(Asn299=) NC_000015.10:73343696:A:G p.(Asn299=) NC_000015.10:73343696:A:G Identity +NM_001868.4:c.900G>A NP_001859.1:p.Lys300= NC_000007.14:130385257:G:A p.(Lys300=) NC_000007.14:130385257:G:A p.(Lys300=) NC_000007.14:130385257:G:A Identity +NM_000038.6:c.906A>C NP_000029.2:p.Arg302= NC_000005.10:112815565:A:C p.(Arg302=) NC_000005.10:112815565:A:C p.(Arg302=) NC_000005.10:112815565:A:C Identity +NM_000465.4:c.906G>A NP_000456.2:p.Lys302= NC_000002.12:214780967:C:T p.(Lys302=) NC_000002.12:214780967:C:T p.(Lys302=) NC_000002.12:214780967:C:T Identity +NM_001081640.2:c.9081A>G NP_001075109.1:p.Leu3027= NC_000008.11:47821633:T:C p.(Leu3027=) NC_000008.11:47821633:T:C p.(Leu3027=) NC_000008.11:47821633:T:C Identity +NM_001035.3:c.9090C>G NP_001026.2:p.Val3030= NC_000001.11:237698986:C:G p.(Val3030=) NC_000001.11:237698986:C:G p.(Val3030=) NC_000001.11:237698986:C:G Identity +NM_001191323.2:c.90A>G NP_001178252.1:p.Gln30= NC_000015.10:32730779:A:G p.(Gln30=) NC_000015.10:32730779:A:G p.(Gln30=) NC_000015.10:32730779:A:G Identity +NM_001256849.1:c.1272G>T NP_001243778.1:p.Val424= NC_000019.10:50406210:G:T p.(Val424=) NC_000019.10:50406210:G:T p.(Val424=) NC_000019.10:50406210:G:T Identity +NM_006767.4:c.1273_1279delinsTAAGG NP_006758.2:p.Pro425_Cys427delinsTer NC_000022.11:20993673:CCTAAAT:TAAGG p.(Pro425Ter) NC_000022.11:20993673:CCTAAAT:TAAGG p.(Pro425Ter) NC_000022.11:20993673:CCTAAAT:TAAGG Analogous +NM_001178133.2:c.912C>T NP_001171604.1:p.Asp304= NC_000010.11:102599433:C:T p.(Asp304=) NC_000010.11:102599433:C:T p.(Asp304=) NC_000010.11:102599433:C:T Identity +NM_001024688.3:c.666T>C NP_001019859.1:p.Pro222= NC_000008.11:89964491:A:G p.(Pro222=) NC_000008.11:89964491:A:G p.(Pro222=) NC_000008.11:89964491:A:G Identity +NM_001211.6:c.921G>A NP_001202.5:p.Glu307= NC_000015.10:40185333:G:A p.(Glu307=) NC_000015.10:40185333:G:A p.(Glu307=) NC_000015.10:40185333:G:A Identity +NM_001282386.1:c.1023C>T NP_001269315.1:p.Ala341= NC_000002.12:208239201:G:A p.(Ala341=) NC_000002.12:208239201:G:A p.(Ala341=) NC_000002.12:208239201:G:A Identity +NM_001282386.1:c.924C>T NP_001269315.1:p.Ala308= NC_000002.12:208239929:G:A p.(Ala308=) NC_000002.12:208239929:G:A p.(Ala308=) NC_000002.12:208239929:G:A Identity +NM_000059.4:c.9255A>G NP_000050.3:p.Thr3085= NC_000013.11:32380143:A:G p.(Thr3085=) NC_000013.11:32380143:A:G p.(Thr3085=) NC_000013.11:32380143:A:G Identity +NM_000237.3:c.1275C>G NP_000228.1:p.Gly425= NC_000008.11:19961035:C:G p.(Gly425=) NC_000008.11:19961035:C:G p.(Gly425=) NC_000008.11:19961035:C:G Identity +NM_001367624.2:c.9384C>T NP_001354553.1:p.Gly3128= NC_000016.10:88436853:C:T p.(Gly3128=) NC_000016.10:88436853:C:T p.(Gly3128=) NC_000016.10:88436853:C:T Identity +NM_001365276.2:c.9366T>C NP_001352205.1:p.His3122= NC_000006.12:32050070:A:G p.(His3122=) NC_000006.12:32050070:A:G p.(His3122=) NC_000006.12:32050070:A:G Identity +NM_024642.5:c.93C>G NP_078918.3:p.Ala31= NC_000009.12:98807790:C:G p.(Ala31=) NC_000009.12:98807790:C:G p.(Ala31=) NC_000009.12:98807790:C:G Identity +NM_005732.4:c.942A>G NP_005723.2:p.Thr314= NC_000005.10:132587979:A:G p.(Thr314=) NC_000005.10:132587979:A:G p.(Thr314=) NC_000005.10:132587979:A:G Identity +NM_032043.3:c.945A>G NP_114432.2:p.Gly315= NC_000017.11:61801447:T:C p.(Gly315=) NC_000017.11:61801447:T:C p.(Gly315=) NC_000017.11:61801447:T:C Identity +NM_000222.3:c.945C>A NP_000213.1:p.Ile315= NC_000004.12:54707116:C:A p.(Ile315=) NC_000004.12:54707116:C:A p.(Ile315=) NC_000004.12:54707116:C:A Identity +NM_001166108.2:c.1278A>T NP_001159580.1:p.Ser426= NC_000004.12:168685501:A:T p.(Ser426=) NC_000004.12:168685501:A:T p.(Ser426=) NC_000004.12:168685501:A:T Identity +NM_005188.4:c.945C>G NP_005179.2:p.Leu315= NC_000011.10:119276071:C:G p.(Leu315=) NC_000011.10:119276071:C:G p.(Leu315=) NC_000011.10:119276071:C:G Identity +NM_016938.5:c.945C>T NP_058634.4:p.Cys315= NC_000011.10:65868323:G:A p.(Cys315=) NC_000011.10:65868323:G:A p.(Cys315=) NC_000011.10:65868323:G:A Identity +NM_001035.3:c.9483C>T NP_001026.2:p.Ala3161= NC_000001.11:237705245:C:T p.(Ala3161=) NC_000001.11:237705245:C:T p.(Ala3161=) NC_000001.11:237705245:C:T Identity +NM_002439.5:c.951C>T NP_002430.3:p.Ala317= NC_000005.10:80672781:C:T p.(Ala317=) NC_000005.10:80672781:C:T p.(Ala317=) NC_000005.10:80672781:C:T Identity +NM_001040108.2:c.951T>C NP_001035197.1:p.Tyr317= NC_000014.9:75048704:A:G p.(Tyr317=) NC_000014.9:75048704:A:G p.(Tyr317=) NC_000014.9:75048704:A:G Identity +NM_001007793.3:c.957A>G NP_001007794.1:p.Ala319= NC_000010.11:123162813:A:G p.(Ala319=) NC_000010.11:123162813:A:G p.(Ala319=) NC_000010.11:123162813:A:G Identity +NM_000057.4:c.1023T>C NP_000048.1:p.Leu341= NC_000015.10:90754873:T:C p.(Leu341=) NC_000015.10:90754873:T:C p.(Leu341=) NC_000015.10:90754873:T:C Identity +NM_001379277.1:c.4272A>G NP_001366206.1:p.Thr1424= NC_000007.14:92095070:A:G p.(Thr1424=) NC_000007.14:92095070:A:G p.(Thr1424=) NC_000007.14:92095070:A:G Identity +NM_001098623.2:c.9639G>A NP_001092093.2:p.Ala3213= NC_000001.11:228287787:G:A p.(Ala3213=) NC_000001.11:228287787:G:A p.(Ala3213=) NC_000001.11:228287787:G:A Identity +NM_001367624.2:c.9765G>C NP_001354553.1:p.Pro3255= NC_000016.10:88437234:G:C p.(Pro3255=) NC_000016.10:88437234:G:C p.(Pro3255=) NC_000016.10:88437234:G:C Identity +NM_000109.4:c.9702C>T NP_000100.3:p.Ile3234= NC_000023.11:31204041:G:A p.(Ile3234=) NC_000023.11:31204041:G:A p.(Ile3234=) NC_000023.11:31204041:G:A Identity +NM_000059.4:c.9747T>C NP_000050.3:p.Thr3249= NC_000013.11:32398259:T:C p.(Thr3249=) NC_000013.11:32398259:T:C p.(Thr3249=) NC_000013.11:32398259:T:C Identity +NM_053046.4:c.976C>T NP_444274.1:p.Leu326= NC_000019.10:40807149:C:T p.(Leu326=) NC_000019.10:40807149:C:T p.(Leu326=) NC_000019.10:40807149:C:T Identity +NM_152594.3:c.984G>A NP_689807.1:p.Glu328= NC_000015.10:38351312:G:A p.(Glu328=) NC_000015.10:38351312:G:A p.(Glu328=) NC_000015.10:38351312:G:A Identity +NM_001346599.2:c.750T>C NP_001333528.1:p.Asn250= NC_000007.14:105548697:T:C p.(Asn250=) NC_000007.14:105548697:T:C p.(Asn250=) NC_000007.14:105548697:T:C Identity +NM_001276289.2:c.990G>C NP_001263218.1:p.Leu330= NC_000017.11:68530292:G:C p.(Leu330=) NC_000017.11:68530292:G:C p.(Leu330=) NC_000017.11:68530292:G:C Identity +LRG_293t1:c.9918C>T LRG_293p1:p.Thr3306= NC_000013.11:32398430:C:T ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:Data provider error: ValueError: Transcript LRG_293t1 not found ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_293t1, alt_ac=LRG_293t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_293t1 not found +NM_001166108.2:c.996A>G NP_001159580.1:p.Ala332= NC_000004.12:168668276:A:G p.(Ala332=) NC_000004.12:168668276:A:G p.(Ala332=) NC_000004.12:168668276:A:G Identity +NM_002354.3:c.9C>T NP_002345.2:p.Pro3= NC_000002.12:47369513:C:T p.(Pro3=) NC_000002.12:47369513:C:T p.(Pro3=) NC_000002.12:47369513:C:T Identity +NM_001301772.2:c.9G>A NP_001288701.1:p.Ala3= NC_000008.11:143213275:G:A p.(Ala3=) NC_000008.11:143213275:G:A p.(Ala3=) NC_000008.11:143213275:G:A Identity +NM_001367624.2:c.10335G>A NP_001354553.1:p.Arg3445= NC_000016.10:88437804:G:A p.(Arg3445=) NC_000016.10:88437804:G:A p.(Arg3445=) NC_000016.10:88437804:G:A Identity +NM_001321307.1:c.1296A>T NP_001308236.1:p.Val432= NC_000011.10:108173687:T:A p.(Val432=) NC_000011.10:108173687:T:A p.(Val432=) NC_000011.10:108173687:T:A Identity +NM_000051.4:c.1296G>T NP_000042.3:p.Leu432= NC_000011.10:108250760:G:T p.(Leu432=) NC_000011.10:108250760:G:T p.(Leu432=) NC_000011.10:108250760:G:T Identity +NM_000302.4:c.129C>A NP_000293.2:p.Arg43= NC_000001.11:11948027:C:A p.(Arg43=) NC_000001.11:11948027:C:A p.(Arg43=) NC_000001.11:11948027:C:A Identity +LRG_461t1:c.129C>T LRG_461p1:p.Pro43= NC_000019.10:45369123:G:A ERR:Data provider error: ValueError: Transcript LRG_461t1 not found ERR:Data provider error: ValueError: Transcript LRG_461t1 not found ERR:AlignmentMapper(tx_ac=LRG_461t1, alt_ac=LRG_461t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_461t1, alt_ac=LRG_461t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_461t1 not found +NM_001211.6:c.1302C>G NP_001202.5:p.Thr434= NC_000015.10:40199627:C:G p.(Thr434=) NC_000015.10:40199627:C:G p.(Thr434=) NC_000015.10:40199627:C:G Identity +NM_001378969.1:c.1305A>T NP_001365898.1:p.Thr435= NC_000001.11:111780755:T:A p.(Thr435=) NC_000001.11:111780755:T:A p.(Thr435=) NC_000001.11:111780755:T:A Identity +NM_001278616.2:c.1260A>T NP_001265545.1:p.Thr420= NC_000002.12:110658698:T:A p.(Thr420=) NC_000002.12:110658698:T:A p.(Thr420=) NC_000002.12:110658698:T:A Identity +NM_001098623.2:c.1323C>T NP_001092093.2:p.Cys441= NC_000001.11:228214237:C:T p.(Cys441=) NC_000001.11:228214237:C:T p.(Cys441=) NC_000001.11:228214237:C:T Identity +NM_001098623.2:c.13278G>A NP_001092093.2:p.Thr4426= NC_000001.11:228316111:G:A p.(Thr4426=) NC_000001.11:228316111:G:A p.(Thr4426=) NC_000001.11:228316111:G:A Identity +NM_001282403.2:c.132G>T NP_001269332.1:p.Leu44= NC_000007.14:76054894:G:T p.(Leu44=) NC_000007.14:76054894:G:T p.(Leu44=) NC_000007.14:76054894:G:T Identity +NM_033118.4:c.1332G>C NP_149109.1:p.Gly444= NC_000020.11:31831048:G:C p.(Gly444=) NC_000020.11:31831048:G:C p.(Gly444=) NC_000020.11:31831048:G:C Identity +NM_001195573.1:c.1029A>G NP_001182502.1:p.Lys343= NC_000014.9:95124542:T:C p.(Lys343=) NC_000014.9:95124542:T:C p.(Lys343=) NC_000014.9:95124542:T:C Identity +NM_001098623.2:c.13401C>T NP_001092093.2:p.Tyr4467= NC_000001.11:228316823:C:T p.(Tyr4467=) NC_000001.11:228316823:C:T p.(Tyr4467=) NC_000001.11:228316823:C:T Identity +NM_001407571.1:c.816T>C NP_001394500.1:p.Asn272= NC_000017.11:43094501:A:G p.(Asn272=) NC_000017.11:43094501:A:G p.(Asn272=) NC_000017.11:43094501:A:G Identity +NM_001318900.1:c.951C>T NP_001305829.1:p.Ser317= NC_000010.11:87059201:G:A p.(Ser317=) NC_000010.11:87059201:G:A p.(Ser317=) NC_000010.11:87059201:G:A Identity +NM_001040108.2:c.1350T>C NP_001035197.1:p.His450= NC_000014.9:75048305:A:G p.(His450=) NC_000014.9:75048305:A:G p.(His450=) NC_000014.9:75048305:A:G Identity +NM_006593.4:c.1345GCGGGC[3] NP_006584.1:p.Gly452_Pro453insAlaGly NC_000002.12:161423517:CGGGCGCGGGCGCGGGC:CGGGCGCGGGCGCGGGCGCGGGC p.(Ala451_Gly452dup) NC_000002.12:161423522:G:GCGGGCGCGGGCGCGGGC ERR:Parse ERR:Parse Analogous +NM_001195573.1:c.1356C>T NP_001182502.1:p.Tyr452= NC_000014.9:95124215:G:A p.(Tyr452=) NC_000014.9:95124215:G:A p.(Tyr452=) NC_000014.9:95124215:G:A Identity +NM_001347827.2:c.1359T>C NP_001334756.1:p.Ile453= NC_000004.12:54272514:T:C p.(Ile453=) NC_000004.12:54272514:T:C p.(Ile453=) NC_000004.12:54272514:T:C Identity +NM_004949.5:c.135C>G NP_004940.1:p.Ala45= NC_000018.10:31093577:G:C p.(Ala45=) NC_000018.10:31093577:G:C p.(Ala45=) NC_000018.10:31093577:G:C Identity +NM_001039210.5:c.135G>A NP_001034299.3:p.Thr45= NC_000023.11:111682184:G:A p.(Thr45=) NC_000023.11:111682184:G:A p.(Thr45=) NC_000023.11:111682184:G:A Identity +NM_001010874.5:c.135T>A NP_001010874.2:p.Pro45= NC_000004.12:64409216:A:T p.(Pro45=) NC_000004.12:64409216:A:T p.(Pro45=) NC_000004.12:64409216:A:T Identity +NM_001321307.1:c.1362C>T NP_001308236.1:p.Asn454= NC_000011.10:108173621:G:A p.(Asn454=) NC_000011.10:108173621:G:A p.(Asn454=) NC_000011.10:108173621:G:A Identity +NM_001256850.1:c.35937G>T NP_001243779.1:p.Val11979= NC_000002.12:178639714:C:A p.(Val11979=) NC_000002.12:178639714:C:A p.(Val11979=) NC_000002.12:178639714:C:A Identity +NM_001290307.3:c.1030C>T NP_001277236.1:p.Leu344= NC_000005.10:138827685:C:T p.(Leu344=) NC_000005.10:138827685:C:T p.(Leu344=) NC_000005.10:138827685:C:T Identity +NM_001082486.2:c.772C>T NP_001075955.2:p.Leu258= NC_000016.10:67658611:G:A p.(Leu258=) NC_000016.10:67658611:G:A p.(Leu258=) NC_000016.10:67658611:G:A Identity +NM_001304420.3:c.1422G>A NP_001291349.1:p.Glu474= NC_000003.12:57896903:G:A p.(Glu474=) NC_000003.12:57896903:G:A p.(Glu474=) NC_000003.12:57896903:G:A Identity +NM_001134363.3:c.1371G>A NP_001127835.2:p.Glu457= NC_000010.11:110784373:G:A p.(Glu457=) NC_000010.11:110784373:G:A p.(Glu457=) NC_000010.11:110784373:G:A Identity +NM_020433.5:c.1374C>A NP_065166.2:p.Gly458= NC_000020.11:44116300:G:T p.(Gly458=) NC_000020.11:44116300:G:T p.(Gly458=) NC_000020.11:44116300:G:T Identity +NM_000784.4:c.1374C>T NP_000775.1:p.Pro458= NC_000002.12:218814654:C:T p.(Pro458=) NC_000002.12:218814654:C:T p.(Pro458=) NC_000002.12:218814654:C:T Identity +NM_000268.4:c.1374G>A NP_000259.1:p.Leu458= NC_000022.11:29674868:G:A p.(Leu458=) NC_000022.11:29674868:G:A p.(Leu458=) NC_000022.11:29674868:G:A Identity +NM_001365951.3:c.1524G>A NP_001352880.1:p.Leu508= NC_000001.11:10292055:G:A p.(Leu508=) NC_000001.11:10292055:G:A p.(Leu508=) NC_000001.11:10292055:G:A Identity +NM_001098623.2:c.13923C>T NP_001092093.2:p.Val4641= NC_000001.11:228317964:C:T p.(Val4641=) NC_000001.11:228317964:C:T p.(Val4641=) NC_000001.11:228317964:C:T Identity +NM_001308176.2:c.1299A>G NP_001295105.1:p.Ala433= NC_000018.10:27990302:T:C p.(Ala433=) NC_000018.10:27990302:T:C p.(Ala433=) NC_000018.10:27990302:T:C Identity +NM_144670.6:c.1395C>T NP_653271.3:p.Gly465= NC_000012.12:8843279:C:T p.(Gly465=) NC_000012.12:8843279:C:T p.(Gly465=) NC_000012.12:8843279:C:T Identity +NM_001430.5:c.1395G>C NP_001421.2:p.Pro465= NC_000002.12:46378038:G:C p.(Pro465=) NC_000002.12:46378038:G:C p.(Pro465=) NC_000002.12:46378038:G:C Identity +NM_000548.5:c.1033_1035delinsTTA NP_000539.2:p.Leu345= NC_000016.10:2060726:CTC:TTA p.(Leu345=) NC_000016.10:2060726:CTC:TTA p.(Leu345=) NC_000016.10:2060726:CTC:TTA Identity +NM_006767.4:c.1401C>T NP_006758.2:p.Ser467= NC_000022.11:20993970:C:T p.(Ser467=) NC_000022.11:20993970:C:T p.(Ser467=) NC_000022.11:20993970:C:T Identity +NM_001114121.2:c.1407G>A NP_001107593.1:p.Gln469= NC_000011.10:125655295:G:A p.(Gln469=) NC_000011.10:125655295:G:A p.(Gln469=) NC_000011.10:125655295:G:A Identity +NM_001178133.2:c.1002C>T NP_001171604.1:p.Gly334= NC_000010.11:102599523:C:T p.(Gly334=) NC_000010.11:102599523:C:T p.(Gly334=) NC_000010.11:102599523:C:T Identity +NM_006767.4:c.1413C>G NP_006758.2:p.Arg471= NC_000022.11:20993982:C:G p.(Arg471=) NC_000022.11:20993982:C:G p.(Arg471=) NC_000022.11:20993982:C:G Identity +NM_032043.3:c.1422C>G NP_114432.2:p.Leu474= NC_000017.11:61793647:G:C p.(Leu474=) NC_000017.11:61793647:G:C p.(Leu474=) NC_000017.11:61793647:G:C Identity +NM_173354.5:c.1425C>T NP_775490.2:p.Ala475= NC_000021.9:43419057:G:A p.(Ala475=) NC_000021.9:43419057:G:A p.(Ala475=) NC_000021.9:43419057:G:A Identity +NM_001317184.2:c.142A>C NP_001304113.1:p.Arg48= NC_000016.10:68738389:A:C p.(Arg48=) NC_000016.10:68738389:A:C p.(Arg48=) NC_000016.10:68738389:A:C Identity +NM_002907.4:c.1035T>C NP_002898.2:p.His345= NC_000012.12:21475738:A:G p.(His345=) NC_000012.12:21475738:A:G p.(His345=) NC_000012.12:21475738:A:G Identity +NM_001142548.2:c.1432T>C NP_001136020.1:p.Leu478= NC_000001.11:46273410:T:C p.(Leu478=) NC_000001.11:46273410:T:C p.(Leu478=) NC_000001.11:46273410:T:C Identity +NM_001407041.1:c.1434A>T NP_001393970.1:p.Ile478= NC_000018.10:51076762:A:T p.(Ile478=) NC_000018.10:51076762:A:T p.(Ile478=) NC_000018.10:51076762:A:T Identity +NM_001430.5:c.1440C>T NP_001421.2:p.Ser480= NC_000002.12:46378083:C:T p.(Ser480=) NC_000002.12:46378083:C:T p.(Ser480=) NC_000002.12:46378083:C:T Identity +NM_006767.4:c.144C>T NP_006758.2:p.Phe48= NC_000022.11:20982514:C:T p.(Phe48=) NC_000022.11:20982514:C:T p.(Phe48=) NC_000022.11:20982514:C:T Identity +NM_006393.3:c.144C>T NP_006384.1:p.Leu48= NC_000010.11:20896966:G:A p.(Leu48=) NC_000010.11:20896966:G:A p.(Leu48=) NC_000010.11:20896966:G:A Identity +NM_001048171.2:c.1368A>C NP_001041636.2:p.Ala456= NC_000001.11:45331205:T:G p.(Ala456=) NC_000001.11:45331205:T:G p.(Ala456=) NC_000001.11:45331205:T:G Identity +NM_001142548.2:c.1455C>T NP_001136020.1:p.Tyr485= NC_000001.11:46273433:C:T p.(Tyr485=) NC_000001.11:46273433:C:T p.(Tyr485=) NC_000001.11:46273433:C:T Identity +NM_000388.4:c.1455G>A NP_000379.3:p.Leu485= NC_000003.12:122275888:G:A p.(Leu485=) NC_000003.12:122275888:G:A p.(Leu485=) NC_000003.12:122275888:G:A Identity +NM_001130916.3:c.1228C>A NP_001124388.1:p.Arg410= NC_000009.12:99149251:C:A p.(Arg410=) NC_000009.12:99149251:C:A p.(Arg410=) NC_000009.12:99149251:C:A Identity +NM_000222.3:c.1473T>C NP_000213.1:p.Cys491= NC_000004.12:54725982:T:C p.(Cys491=) NC_000004.12:54725982:T:C p.(Cys491=) NC_000004.12:54725982:T:C Identity +NM_001007468.3:c.147A>G NP_001007469.1:p.Ser49= NC_000022.11:23791808:A:G p.(Ser49=) NC_000022.11:23791808:A:G p.(Ser49=) NC_000022.11:23791808:A:G Identity +NM_001406559.1:c.147C>T NP_001393488.1:p.Thr49= NC_000010.11:86890140:C:T p.(Thr49=) NC_000010.11:86890140:C:T p.(Thr49=) NC_000010.11:86890140:C:T Identity +NM_002471.4:c.147C>T NP_002462.2:p.Ala49= NC_000014.9:23407076:G:A p.(Ala49=) NC_000014.9:23407076:G:A p.(Ala49=) NC_000014.9:23407076:G:A Identity +NM_000117.3:c.147G>T NP_000108.1:p.Ser49= NC_000023.11:154379753:G:T p.(Ser49=) NC_000023.11:154379753:G:T p.(Ser49=) NC_000023.11:154379753:G:T Identity +NM_001406559.1:c.1555C>A NP_001393488.1:p.Arg519= NC_000010.11:86923599:C:A p.(Arg519=) NC_000010.11:86923599:C:A p.(Arg519=) NC_000010.11:86923599:C:A Identity +NM_000143.4:c.1482A>C NP_000134.2:p.Ala494= NC_000001.11:241497878:T:G p.(Ala494=) NC_000001.11:241497878:T:G p.(Ala494=) NC_000001.11:241497878:T:G Identity +NM_001098623.2:c.14866C>T NP_001092093.2:p.Leu4956= NC_000001.11:228321706:C:T p.(Leu4956=) NC_000001.11:228321706:C:T p.(Leu4956=) NC_000001.11:228321706:C:T Identity +NM_001365951.3:c.1624C>T NP_001352880.1:p.Leu542= NC_000001.11:10295118:C:T p.(Leu542=) NC_000001.11:10295118:C:T p.(Leu542=) NC_000001.11:10295118:C:T Identity +NM_001184.4:c.1488C>A NP_001175.2:p.Val496= NC_000003.12:142560315:G:T p.(Val496=) NC_000003.12:142560315:G:T p.(Val496=) NC_000003.12:142560315:G:T Identity +NM_000179.3:c.1488T>C NP_000170.1:p.Cys496= NC_000002.12:47799470:T:C p.(Cys496=) NC_000002.12:47799470:T:C p.(Cys496=) NC_000002.12:47799470:T:C Identity +NM_020774.4:c.1500A>C NP_065825.1:p.Ala500= NC_000018.10:21815635:A:C p.(Ala500=) NC_000018.10:21815635:A:C p.(Ala500=) NC_000018.10:21815635:A:C Identity +NM_001378454.1:c.10416T>C NP_001365383.1:p.Thr3472= NC_000002.12:73572292:T:C p.(Thr3472=) NC_000002.12:73572292:T:C p.(Thr3472=) NC_000002.12:73572292:T:C Identity +NM_001406559.1:c.1116A>G NP_001393488.1:p.Thr372= NC_000010.11:86919343:A:G p.(Thr372=) NC_000010.11:86919343:A:G p.(Thr372=) NC_000010.11:86919343:A:G Identity +NM_000454.5:c.150G>A NP_000445.1:p.Glu50= NC_000021.9:31663866:G:A p.(Glu50=) NC_000021.9:31663866:G:A p.(Glu50=) NC_000021.9:31663866:G:A Identity +NM_001256850.1:c.37380C>T NP_001243779.1:p.Ile12460= NC_000002.12:178634477:G:A p.(Ile12460=) NC_000002.12:178634477:G:A p.(Ile12460=) NC_000002.12:178634477:G:A Identity +NM_000130.5:c.1512A>G NP_000121.2:p.Pro504= NC_000001.11:169549899:T:C p.(Pro504=) NC_000001.11:169549899:T:C p.(Pro504=) NC_000001.11:169549899:T:C Identity +NM_001352300.2:c.1512C>T NP_001339229.1:p.Val504= NC_000022.11:19877164:G:A p.(Val504=) NC_000022.11:19877164:G:A p.? NC_000022.11:19877164:G:A Identity +NM_000323.2:c.1518G>T NP_000314.1:p.Gly506= NC_000010.11:43111460:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000249.4:c.1041T>C NP_000240.1:p.Thr347= NC_000003.12:37025638:T:C p.(Thr347=) NC_000003.12:37025638:T:C p.(Thr347=) NC_000003.12:37025638:T:C Identity +NM_005585.5:c.1041T>C NP_005576.3:p.Tyr347= NC_000015.10:66781084:T:C p.(Tyr347=) NC_000015.10:66781084:T:C p.(Tyr347=) NC_000015.10:66781084:T:C Identity +NM_006767.4:c.1525C>T NP_006758.2:p.Leu509= NC_000022.11:20994178:C:T p.(Leu509=) NC_000022.11:20994178:C:T p.(Leu509=) NC_000022.11:20994178:C:T Identity +NM_000057.4:c.1527A>G NP_000048.1:p.Pro509= NC_000015.10:90760899:A:G p.(Pro509=) NC_000015.10:90760899:A:G p.(Pro509=) NC_000015.10:90760899:A:G Identity +NM_024642.5:c.1527G>T NP_078918.3:p.Val509= NC_000009.12:98846044:G:T p.(Val509=) NC_000009.12:98846044:G:T p.(Val509=) NC_000009.12:98846044:G:T Identity +NM_024642.5:c.153A>G NP_078918.3:p.Gly51= NC_000009.12:98807850:A:G p.(Gly51=) NC_000009.12:98807850:A:G p.(Gly51=) NC_000009.12:98807850:A:G Identity +NM_001130144.3:c.153A>T NP_001123616.1:p.Ala51= NC_000011.10:65557806:T:A p.(Ala51=) NC_000011.10:65557806:T:A p.(Ala51=) NC_000011.10:65557806:T:A Identity +NM_001290307.3:c.153G>A NP_001277236.1:p.Lys51= NC_000005.10:138783223:G:A p.(Lys51=) NC_000005.10:138783223:G:A p.(Lys51=) NC_000005.10:138783223:G:A Identity +NM_004982.4:c.153T>G NP_004973.1:p.Arg51= NC_000012.12:21773463:A:C p.(Arg51=) NC_000012.12:21773463:A:C p.(Arg51=) NC_000012.12:21773463:A:C Identity +NM_053046.4:c.1044C>T NP_444274.1:p.Leu348= NC_000019.10:40807217:C:T p.(Leu348=) NC_000019.10:40807217:C:T p.(Leu348=) NC_000019.10:40807217:C:T Identity +NM_001278616.2:c.1488C>T NP_001265545.1:p.Val496= NC_000002.12:110657613:G:A p.(Val496=) NC_000002.12:110657613:G:A p.(Val496=) NC_000002.12:110657613:G:A Identity +NM_000136.3:c.1548T>A NP_000127.2:p.Ala516= NC_000009.12:95101835:A:T p.(Ala516=) NC_000009.12:95101835:A:T p.(Ala516=) NC_000009.12:95101835:A:T Identity +NM_000722.4:c.1560T>C NP_000713.2:p.Tyr520= NC_000007.14:82005452:A:G p.(Tyr520=) NC_000007.14:82005452:A:G p.(Tyr520=) NC_000007.14:82005452:A:G Identity +NM_001211.6:c.1563T>C NP_001202.5:p.Ser521= NC_000015.10:40200975:T:C p.(Ser521=) NC_000015.10:40200975:T:C p.(Ser521=) NC_000015.10:40200975:T:C Identity +NM_001321307.1:c.1566A>G NP_001308236.1:p.Glu522= NC_000011.10:108173417:T:C p.(Glu522=) NC_000011.10:108173417:T:C p.(Glu522=) NC_000011.10:108173417:T:C Identity +NM_000244.4:c.1581C>T NP_000235.3:p.Val527= NC_000011.10:64804600:G:A p.(Val527=) NC_000011.10:64804600:G:A p.(Val527=) NC_000011.10:64804600:G:A Identity +NM_000388.4:c.1566C>T NP_000379.3:p.Phe522= NC_000003.12:122275999:C:T p.(Phe522=) NC_000003.12:122275999:C:T p.(Phe522=) NC_000003.12:122275999:C:T Identity +NM_001098623.2:c.15693G>A NP_001092093.2:p.Glu5231= NC_000001.11:228332899:G:A p.(Glu5231=) NC_000001.11:228332899:G:A p.(Glu5231=) NC_000001.11:228332899:G:A Identity +NM_001098623.2:c.15696C>G NP_001092093.2:p.Ser5232= NC_000001.11:228332902:C:G p.(Ser5232=) NC_000001.11:228332902:C:G p.(Ser5232=) NC_000001.11:228332902:C:G Identity +NM_001141945.3:c.156A>G NP_001135417.1:p.Lys52= NC_000010.11:88947359:T:C p.(Lys52=) NC_000010.11:88947359:T:C p.(Lys52=) NC_000010.11:88947359:T:C Identity +NM_001142548.2:c.1578G>A NP_001136020.1:p.Leu526= NC_000001.11:46273714:G:A p.(Leu526=) NC_000001.11:46273714:G:A p.(Leu526=) NC_000001.11:46273714:G:A Identity +NM_006218.4:c.1047A>C NP_006209.2:p.Arg349= NC_000003.12:179203776:A:C p.(Arg349=) NC_000003.12:179203776:A:C p.(Arg349=) NC_000003.12:179203776:A:C Identity +NM_001363813.1:c.1581C>A NP_001350742.1:p.Thr527= NC_000017.11:65537454:G:T p.(Thr527=) NC_000017.11:65537454:G:T p.(Thr527=) NC_000017.11:65537454:G:T Identity +NM_001365951.3:c.1719G>T NP_001352880.1:p.Gly573= NC_000001.11:10295707:G:T p.(Gly573=) NC_000001.11:10295707:G:T p.(Gly573=) NC_000001.11:10295707:G:T Identity +NM_001081640.2:c.1047C>T NP_001075109.1:p.Ile349= NC_000008.11:47939616:G:A p.(Ile349=) NC_000008.11:47939616:G:A p.(Ile349=) NC_000008.11:47939616:G:A Identity +NM_001365276.2:c.1047C>T NP_001352205.1:p.Gly349= NC_000006.12:32096805:G:A p.(Gly349=) NC_000006.12:32096805:G:A p.(Gly349=) NC_000006.12:32096805:G:A Identity +NM_001098623.2:c.15906C>T NP_001092093.2:p.Thr5302= NC_000001.11:228333631:C:T p.(Thr5302=) NC_000001.11:228333631:C:T p.(Thr5302=) NC_000001.11:228333631:C:T Identity +NM_006767.4:c.1590C>T NP_006758.2:p.Thr530= NC_000022.11:20994243:C:T p.(Thr530=) NC_000022.11:20994243:C:T p.(Thr530=) NC_000022.11:20994243:C:T Identity +NM_001378969.1:c.159C>G NP_001365898.1:p.Thr53= NC_000001.11:111982567:G:C p.(Thr53=) NC_000001.11:111982567:G:C p.(Thr53=) NC_000001.11:111982567:G:C Identity +NM_021167.5:c.159G>A NP_066990.3:p.Gly53= NC_000007.14:92447887:G:A p.(Gly53=) NC_000007.14:92447887:G:A p.(Gly53=) NC_000007.14:92447887:G:A Identity +NM_000335.5:c.159G>T NP_000326.2:p.Arg53= NC_000003.12:38633148:C:A p.(Arg53=) NC_000003.12:38633148:C:A p.(Arg53=) NC_000003.12:38633148:C:A Identity +NM_001317769.2:c.159T>A NP_001304698.1:p.Thr53= NC_000004.12:67571121:T:A p.(Thr53=) NC_000004.12:67571121:T:A p.(Thr53=) NC_000004.12:67571121:T:A Identity +NM_002876.4:c.15G>A NP_002867.1:p.Thr5= NC_000017.11:58692657:G:A p.(Thr5=) NC_000017.11:58692657:G:A p.(Thr5=) NC_000017.11:58692657:G:A Identity +NM_000051.4:c.1602T>A NP_000042.3:p.Pro534= NC_000011.10:108251066:T:A p.(Pro534=) NC_000011.10:108251066:T:A p.(Pro534=) NC_000011.10:108251066:T:A Identity +NM_002907.4:c.1608A>T NP_002898.2:p.Thr536= NC_000012.12:21471486:T:A p.(Thr536=) NC_000012.12:21471486:T:A p.(Thr536=) NC_000012.12:21471486:T:A Identity +NM_001293306.2:c.1620T>A NP_001280235.2:p.Gly540= NC_000003.12:38752353:A:T p.(Gly540=) NC_000003.12:38752353:A:T p.(Gly540=) NC_000003.12:38752353:A:T Identity +NM_001142548.2:c.1623C>T NP_001136020.1:p.Val541= NC_000001.11:46274149:C:T p.(Val541=) NC_000001.11:46274149:C:T p.(Val541=) NC_000001.11:46274149:C:T Identity +NM_001271223.3:c.19122C>T NP_001258152.2:p.Gly6374= NC_000001.11:228335143:C:T p.(Gly6374=) NC_000001.11:228335143:C:T p.(Gly6374=) NC_000001.11:228335143:C:T Identity +NM_003098.3:c.162C>G NP_003089.1:p.Gly54= NC_000020.11:33443458:G:C p.(Gly54=) NC_000020.11:33443458:G:C p.(Gly54=) NC_000020.11:33443458:G:C Identity +NM_001354966.2:c.162T>C NP_001341895.1:p.Tyr54= NC_000005.10:147828053:A:G p.(Tyr54=) NC_000005.10:147828053:A:G p.(Tyr54=) NC_000005.10:147828053:A:G Identity +NM_001040108.2:c.1050A>G NP_001035197.1:p.Gln350= NC_000014.9:75048605:T:C p.(Gln350=) NC_000014.9:75048605:T:C p.(Gln350=) NC_000014.9:75048605:T:C Identity +NM_000722.4:c.1635A>G NP_000713.2:p.Ala545= NC_000007.14:81997205:T:C p.(Ala545=) NC_000007.14:81997205:T:C p.(Ala545=) NC_000007.14:81997205:T:C Identity +LRG_300t1:c.1635A>T LRG_300p1:p.Ala545= NC_000017.11:61780998:T:A ERR:Data provider error: ValueError: Transcript LRG_300t1 not found ERR:Data provider error: ValueError: Transcript LRG_300t1 not found ERR:AlignmentMapper(tx_ac=LRG_300t1, alt_ac=LRG_300t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_300t1, alt_ac=LRG_300t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_300t1 not found +NM_001023.4:c.163C>A NP_001014.1:p.Arg55= NC_000008.11:56073708:G:T p.(Arg55=) NC_000008.11:56073708:G:T p.(Arg55=) NC_000008.11:56073708:G:T Identity +NM_001365276.2:c.1050G>A NP_001352205.1:p.Gly350= NC_000006.12:32096802:C:T p.(Gly350=) NC_000006.12:32096802:C:T p.(Gly350=) NC_000006.12:32096802:C:T Identity +NM_001430.5:c.1641C>T NP_001421.2:p.Pro547= NC_000002.12:46380312:C:T p.(Pro547=) NC_000002.12:46380312:C:T p.(Pro547=) NC_000002.12:46380312:C:T Identity +NM_000388.4:c.1641G>A NP_000379.3:p.Leu547= NC_000003.12:122282144:G:A p.(Leu547=) NC_000003.12:122282144:G:A p.(Leu547=) NC_000003.12:122282144:G:A Identity +NM_000143.4:c.1050G>C NP_000134.2:p.Arg350= NC_000001.11:241504099:C:G p.(Arg350=) NC_000001.11:241504099:C:G p.(Arg350=) NC_000001.11:241504099:C:G Identity +NM_001410772.1:c.1590T>C NP_001397701.1:p.Arg530= NC_000003.12:52403500:A:G p.(Arg530=) NC_000003.12:52403500:A:G p.(Arg530=) NC_000003.12:52403500:A:G Identity +NM_004281.4:c.1647C>T NP_004272.2:p.Thr549= NC_000010.11:119677200:C:T p.(Thr549=) NC_000010.11:119677200:C:T p.(Thr549=) NC_000010.11:119677200:C:T Identity +NM_001317184.2:c.1465A>C NP_001304113.1:p.Arg489= NC_000016.10:68819361:A:C p.(Arg489=) NC_000016.10:68819361:A:C p.(Arg489=) NC_000016.10:68819361:A:C Identity +NM_001430.5:c.1654T>C NP_001421.2:p.Leu552= NC_000002.12:46380325:T:C p.(Leu552=) NC_000002.12:46380325:T:C p.(Leu552=) NC_000002.12:46380325:T:C Identity +NM_001142548.2:c.1656A>T NP_001136020.1:p.Arg552= NC_000001.11:46274182:A:T p.(Arg552=) NC_000001.11:46274182:A:T p.(Arg552=) NC_000001.11:46274182:A:T Identity +NM_199420.4:c.1659T>C NP_955452.3:p.Tyr553= NC_000003.12:121510195:A:G p.(Tyr553=) NC_000003.12:121510195:A:G p.(Tyr553=) NC_000003.12:121510195:A:G Identity +NM_001193304.3:c.165C>T NP_001180233.1:p.His55= NC_000002.12:96265216:G:A p.(His55=) NC_000002.12:96265216:G:A p.(His55=) NC_000002.12:96265216:G:A Identity +NM_001164269.2:c.165G>A NP_001157741.1:p.Ala55= NC_000015.10:40701140:G:A p.(Ala55=) NC_000015.10:40701140:G:A p.(Ala55=) NC_000015.10:40701140:G:A Identity +NM_001430.5:c.1665C>T NP_001421.2:p.Asn555= NC_000002.12:46380336:C:T p.(Asn555=) NC_000002.12:46380336:C:T p.(Asn555=) NC_000002.12:46380336:C:T Identity +NM_001321307.1:c.1668T>C NP_001308236.1:p.Asp556= NC_000011.10:108173315:A:G p.(Asp556=) NC_000011.10:108173315:A:G p.(Asp556=) NC_000011.10:108173315:A:G Identity +NM_001365951.3:c.1809A>C NP_001352880.1:p.Ser603= NC_000001.11:10296612:A:C p.(Ser603=) NC_000001.11:10296612:A:C p.(Ser603=) NC_000001.11:10296612:A:C Identity +NM_001035.3:c.1672T>C NP_001026.2:p.Leu558= NC_000001.11:237469150:T:C p.(Leu558=) NC_000001.11:237469150:T:C p.(Leu558=) NC_000001.11:237469150:T:C Identity +NM_001430.5:c.1053C>T NP_001421.2:p.Asp351= NC_000002.12:46376556:C:T p.(Asp351=) NC_000002.12:46376556:C:T p.(Asp351=) NC_000002.12:46376556:C:T Identity +NM_018975.4:c.1053G>C NP_061848.2:p.Ala351= NC_000016.10:75656463:G:C p.(Ala351=) NC_000016.10:75656463:G:C p.(Ala351=) NC_000016.10:75656463:G:C Identity +NM_000465.4:c.1683C>T NP_000456.2:p.Asn561= NC_000002.12:214745848:G:A p.(Asn561=) NC_000002.12:214745848:G:A p.(Asn561=) NC_000002.12:214745848:G:A Identity +NM_000249.4:c.1686_1701dup NP_000240.1:p.Phe568delinsAspThrHisLeuTer NC_000003.12:37042285:GATACTCATTTATGAT:GATACTCATTTATGATGATACTCATTTATGAT p.(Phe568AspfsTer5) NC_000003.12:37042285:GATACTCATTTATGAT:GATACTCATTTATGATGATACTCATTTATGAT p.(Phe568AspfsTer5) ERR:SPDI Analogous +NM_004085.4:c.168C>T NP_004076.1:p.Asp56= NC_000023.11:101346624:G:A p.(Asp56=) NC_000023.11:101346624:G:A p.(Asp56=) NC_000023.11:101346624:G:A Identity +NM_052947.4:c.168C>T NP_443179.3:p.Gly56= NC_000018.10:58607380:G:A p.(Gly56=) NC_000018.10:58607380:G:A p.(Gly56=) NC_000018.10:58607380:G:A Identity +NM_001356429.2:c.168G>C NP_001343358.1:p.Leu56= NC_000008.11:15623108:G:C p.(Leu56=) NC_000008.11:15623108:G:C p.(Leu56=) NC_000008.11:15623108:G:C Identity +NM_003098.3:c.168G>T NP_003089.1:p.Pro56= NC_000020.11:33443452:C:A p.(Pro56=) NC_000020.11:33443452:C:A p.(Pro56=) NC_000020.11:33443452:C:A Identity +NM_001142548.2:c.1704C>T NP_001136020.1:p.Val568= NC_000001.11:46274551:C:T p.(Val568=) NC_000001.11:46274551:C:T p.(Val568=) NC_000001.11:46274551:C:T Identity +NM_001081640.2:c.1716T>C NP_001075109.1:p.Val572= NC_000008.11:47933079:A:G p.(Val572=) NC_000008.11:47933079:A:G p.(Val572=) NC_000008.11:47933079:A:G Identity +NM_001357321.2:c.1716C>T NP_001344250.1:p.Ala572= NC_000002.12:43875375:C:T p.(Ala572=) NC_000002.12:43875375:C:T p.(Ala572=) NC_000002.12:43875375:C:T Identity +NM_006231.4:c.1719G>T NP_006222.2:p.Arg573= NC_000012.12:132672289:C:A p.(Arg573=) NC_000012.12:132672289:C:A p.(Arg573=) NC_000012.12:132672289:C:A Identity +NM_002907.4:c.171A>G NP_002898.2:p.Ala57= NC_000012.12:21491561:T:C p.(Ala57=) NC_000012.12:21491561:T:C p.(Ala57=) NC_000012.12:21491561:T:C Identity +NM_024642.5:c.171C>A NP_078918.3:p.Arg57= NC_000009.12:98807868:C:A p.(Arg57=) NC_000009.12:98807868:C:A p.(Arg57=) NC_000009.12:98807868:C:A Identity +NM_005120.3:c.171C>T NP_005111.2:p.Gly57= NC_000023.11:71119443:C:T p.(Gly57=) NC_000023.11:71119443:C:T p.(Gly57=) NC_000023.11:71119443:C:T Identity +NM_000264.5:c.1722C>T NP_000255.2:p.Ser574= NC_000009.12:95476039:G:A p.(Ser574=) NC_000009.12:95476039:G:A p.(Ser574=) NC_000009.12:95476039:G:A Identity +NM_000244.4:c.1740C>T NP_000235.3:p.Ile580= NC_000011.10:64804441:G:A p.(Ile580=) NC_000011.10:64804441:G:A p.(Ile580=) NC_000011.10:64804441:G:A Identity +NM_001040108.2:c.1728T>C NP_001035197.1:p.Ser576= NC_000014.9:75047927:A:G p.(Ser576=) NC_000014.9:75047927:A:G p.(Ser576=) NC_000014.9:75047927:A:G Identity +NM_001040108.2:c.1731T>C NP_001035197.1:p.Ala577= NC_000014.9:75047924:A:G p.(Ala577=) NC_000014.9:75047924:A:G p.(Ala577=) NC_000014.9:75047924:A:G Identity +NM_001290307.3:c.1734G>C NP_001277236.1:p.Leu578= NC_000005.10:138924696:G:C p.(Leu578=) NC_000005.10:138924696:G:C p.(Leu578=) NC_000005.10:138924696:G:C Identity +NM_001098623.2:c.10581C>G NP_001092093.2:p.Thr3527= NC_000001.11:228292138:C:G p.(Thr3527=) NC_000001.11:228292138:C:G p.(Thr3527=) NC_000001.11:228292138:C:G Identity +NM_001040108.2:c.1737A>G NP_001035197.1:p.Thr579= NC_000014.9:75047918:T:C p.(Thr579=) NC_000014.9:75047918:T:C p.(Thr579=) NC_000014.9:75047918:T:C Identity +NM_001098623.2:c.10593C>T NP_001092093.2:p.Leu3531= NC_000001.11:228292150:C:T p.(Leu3531=) NC_000001.11:228292150:C:T p.(Leu3531=) NC_000001.11:228292150:C:T Identity +NM_000321.3:c.174T>C NP_000312.2:p.Thr58= NC_000013.11:48307315:T:C p.(Thr58=) NC_000013.11:48307315:T:C p.(Thr58=) NC_000013.11:48307315:T:C Identity +NM_001430.5:c.1755G>A NP_001421.2:p.Leu585= NC_000002.12:46380426:G:A p.(Leu585=) NC_000002.12:46380426:G:A p.(Leu585=) NC_000002.12:46380426:G:A Identity +NM_001098623.2:c.17580G>A NP_001092093.2:p.Leu5860= NC_000001.11:228340770:G:A p.(Leu5860=) NC_000001.11:228340770:G:A p.(Leu5860=) NC_000001.11:228340770:G:A Identity +NM_000555.3:c.1302G>A NP_000546.2:p.Ser434= NC_000023.11:111301710:C:T p.(Ser434=) NC_000023.11:111301710:C:T p.(Ser434=) NC_000023.11:111301710:C:T Identity +NM_001024688.3:c.1515C>G NP_001019859.1:p.Val505= NC_000008.11:89953327:G:C p.(Val505=) NC_000008.11:89953327:G:C p.(Val505=) NC_000008.11:89953327:G:C Identity +NM_001098623.2:c.17709C>T NP_001092093.2:p.Ile5903= NC_000001.11:228341105:C:T p.(Ile5903=) NC_000001.11:228341105:C:T p.(Ile5903=) NC_000001.11:228341105:C:T Identity +NM_000264.5:c.1770C>T NP_000255.2:p.Leu590= NC_000009.12:95469889:G:A p.(Leu590=) NC_000009.12:95469889:G:A p.(Leu590=) NC_000009.12:95469889:G:A Identity +NM_004444.5:c.1770C>T NP_004435.3:p.Tyr590= NC_000007.14:100813194:G:A p.(Tyr590=) NC_000007.14:100813194:G:A p.(Tyr590=) NC_000007.14:100813194:G:A Identity +NM_001407296.1:c.1710T>C NP_001394225.1:p.Ala570= NC_000016.10:23630383:A:G p.(Ala570=) NC_000016.10:23630383:A:G p.(Ala570=) NC_000016.10:23630383:A:G Identity +NM_001202470.3:c.105G>A NP_001189399.1:p.Leu35= NC_000006.12:34425116:C:T p.(Leu35=) NC_000006.12:34425116:C:T p.(Leu35=) NC_000006.12:34425116:C:T Identity +NM_001098623.2:c.17772C>T NP_001092093.2:p.Leu5924= NC_000001.11:228341168:C:T p.(Leu5924=) NC_000001.11:228341168:C:T p.(Leu5924=) NC_000001.11:228341168:C:T Identity +NM_001142548.2:c.177C>T NP_001136020.1:p.Thr59= NC_000001.11:46250085:C:T p.(Thr59=) NC_000001.11:46250085:C:T p.(Thr59=) NC_000001.11:46250085:C:T Identity +NM_003793.4:c.177G>A NP_003784.2:p.Arg59= NC_000011.10:66568309:C:T p.(Arg59=) NC_000011.10:66568309:C:T p.(Arg59=) NC_000011.10:66568309:C:T Identity +NM_001256850.1:c.40233T>C NP_001243779.1:p.Cys13411= NC_000002.12:178621667:A:G p.(Cys13411=) NC_000002.12:178621667:A:G p.(Cys13411=) NC_000002.12:178621667:A:G Identity +NM_000400.4:c.1806C>A NP_000391.1:p.Gly602= NC_000019.10:45353107:G:T p.(Gly602=) NC_000019.10:45353107:G:T p.(Gly602=) NC_000019.10:45353107:G:T Identity +NM_006218.4:c.1806G>C NP_006209.2:p.Leu602= NC_000003.12:179219629:G:C p.(Leu602=) NC_000003.12:179219629:G:C p.(Leu602=) NC_000003.12:179219629:G:C Identity +NM_001290307.3:c.1812G>A NP_001277236.1:p.Gln604= NC_000005.10:138925319:G:A p.(Gln604=) NC_000005.10:138925319:G:A p.(Gln604=) NC_000005.10:138925319:G:A Identity +NM_001365951.3:c.1956C>A NP_001352880.1:p.Thr652= NC_000001.11:10296990:C:A p.(Thr652=) NC_000001.11:10296990:C:A p.(Thr652=) NC_000001.11:10296990:C:A Identity +NM_000229.2:c.1062C>T NP_000220.1:p.Gly354= NC_000016.10:67940164:G:A p.(Gly354=) NC_000016.10:67940164:G:A p.(Gly354=) NC_000016.10:67940164:G:A Identity +NM_006218.4:c.1821A>G NP_006209.2:p.Pro607= NC_000003.12:179219644:A:G p.(Pro607=) NC_000003.12:179219644:A:G p.(Pro607=) NC_000003.12:179219644:A:G Identity +NM_001184.4:c.1062T>G NP_001175.2:p.Leu354= NC_000003.12:142562339:A:C p.(Leu354=) NC_000003.12:142562339:A:C p.(Leu354=) NC_000003.12:142562339:A:C Identity +NM_001317184.2:c.1650C>A NP_001304113.1:p.Val550= NC_000016.10:68822121:C:A p.(Val550=) NC_000016.10:68822121:C:A p.(Val550=) NC_000016.10:68822121:C:A Identity +NM_002432.3:c.183T>C NP_002423.1:p.Cys61= NC_000001.11:158842335:T:C p.(Cys61=) NC_000001.11:158842335:T:C p.(Cys61=) NC_000001.11:158842335:T:C Identity +NM_020433.5:c.1845A>C NP_065166.2:p.Ala615= NC_000020.11:44115829:T:G p.(Ala615=) NC_000020.11:44115829:T:G p.(Ala615=) NC_000020.11:44115829:T:G Identity +NM_001128844.3:c.1851G>T NP_001122316.1:p.Val617= NC_000019.10:11003066:G:T p.(Val617=) NC_000019.10:11003066:G:T p.(Val617=) NC_000019.10:11003066:G:T Identity +NM_052947.4:c.1863A>G NP_443179.3:p.Ser621= NC_000018.10:58578912:T:C p.(Ser621=) NC_000018.10:58578912:T:C p.(Ser621=) NC_000018.10:58578912:T:C Identity +NM_000249.4:c.1866T>C NP_000240.1:p.Leu622= NC_000003.12:37047652:T:C p.(Leu622=) NC_000003.12:37047652:T:C p.(Leu622=) NC_000003.12:37047652:T:C Identity +NM_001308176.2:c.1776T>C NP_001295105.1:p.Ile592= NC_000018.10:27985633:A:G p.(Ile592=) NC_000018.10:27985633:A:G p.(Ile592=) NC_000018.10:27985633:A:G Identity +NM_001354609.2:c.1872C>T NP_001341538.1:p.Val624= NC_000007.14:140749406:G:A p.(Val624=) NC_000007.14:140749406:G:A p.(Val624=) NC_000007.14:140749406:G:A Identity +NM_001308176.2:c.1782A>G NP_001295105.1:p.Ala594= NC_000018.10:27985627:T:C p.(Ala594=) NC_000018.10:27985627:T:C p.(Ala594=) NC_000018.10:27985627:T:C Identity +NM_002439.5:c.1884T>A NP_002430.3:p.Ile628= NC_000005.10:80761665:T:A p.(Ile628=) NC_000005.10:80761665:T:A p.(Ile628=) NC_000005.10:80761665:T:A Identity +NM_001040113.2:c.1908C>T NP_001035202.1:p.Asp636= NC_000016.10:15750308:G:A p.(Asp636=) NC_000016.10:15750308:G:A p.(Asp636=) NC_000016.10:15750308:G:A Identity +NM_001406991.1:c.1887G>C NP_001393920.1:p.Val629= NC_000001.11:156138675:G:C p.(Val629=) NC_000001.11:156138675:G:C p.(Val629=) NC_000001.11:156138675:G:C Identity +NM_005120.3:c.1893C>G NP_005111.2:p.Pro631= NC_000023.11:71124306:C:G p.(Pro631=) NC_000023.11:71124306:C:G p.(Pro631=) NC_000023.11:71124306:C:G Identity +NM_052843.4:c.18948C>T NP_443075.3:p.Pro6316= NC_000001.11:228359839:C:T p.(Pro6316=) NC_000001.11:228359839:C:T p.(Pro6316=) NC_000001.11:228359839:C:T Identity +NM_130468.4:c.189C>A NP_569735.1:p.Gly63= NC_000015.10:40471401:C:A p.(Gly63=) NC_000015.10:40471401:C:A p.(Gly63=) NC_000015.10:40471401:C:A Identity +NM_001023.4:c.189C>T NP_001014.1:p.Ile63= NC_000008.11:56073260:G:A p.(Ile63=) NC_000008.11:56073260:G:A p.(Ile63=) NC_000008.11:56073260:G:A Identity +NM_002432.3:c.18G>A NP_002423.1:p.Lys6= NC_000001.11:158842170:G:A p.(Lys6=) NC_000001.11:158842170:G:A p.(Lys6=) NC_000001.11:158842170:G:A Identity +NM_052843.4:c.19041C>T NP_443075.3:p.Thr6347= NC_000001.11:228359932:C:T p.(Thr6347=) NC_000001.11:228359932:C:T p.(Thr6347=) NC_000001.11:228359932:C:T Identity +NM_001257374.3:c.669G>C NP_001244303.1:p.Arg223= NC_000001.11:156135968:G:C p.(Arg223=) NC_000001.11:156135968:G:C p.(Arg223=) NC_000001.11:156135968:G:C Identity +NM_001290307.3:c.1068A>G NP_001277236.1:p.Gly356= NC_000005.10:138886216:A:G p.(Gly356=) NC_000005.10:138886216:A:G p.(Gly356=) NC_000005.10:138886216:A:G Identity +NM_000400.4:c.1908G>C NP_000391.1:p.Arg636= NC_000019.10:45352643:C:G p.(Arg636=) NC_000019.10:45352643:C:G p.(Arg636=) NC_000019.10:45352643:C:G Identity +NM_001081640.2:c.1914A>G NP_001075109.1:p.Gln638= NC_000008.11:47929990:T:C p.(Gln638=) NC_000008.11:47929990:T:C p.(Gln638=) NC_000008.11:47929990:T:C Identity +NM_001114753.3:c.1920C>G NP_001108225.1:p.Thr640= NC_000009.12:127815738:G:C p.(Thr640=) NC_000009.12:127815738:G:C p.(Thr640=) NC_000009.12:127815738:G:C Identity +NM_001184.4:c.1920G>A NP_001175.2:p.Leu640= NC_000003.12:142556540:C:T p.(Leu640=) NC_000003.12:142556540:C:T p.(Leu640=) NC_000003.12:142556540:C:T Identity +NM_006767.4:c.192G>A NP_006758.2:p.Val64= NC_000022.11:20982562:G:A p.(Val64=) NC_000022.11:20982562:G:A p.(Val64=) NC_000022.11:20982562:G:A Identity +NM_006231.4:c.192T>C NP_006222.2:p.Ile64= NC_000012.12:132681149:A:G p.(Ile64=) NC_000012.12:132681149:A:G p.(Ile64=) NC_000012.12:132681149:A:G Identity +NM_052843.4:c.19380C>T NP_443075.3:p.Asn6460= NC_000001.11:228360271:C:T p.(Asn6460=) NC_000001.11:228360271:C:T p.(Asn6460=) NC_000001.11:228360271:C:T Identity +NM_004304.5:c.1947A>C NP_004295.2:p.Ala649= NC_000002.12:29275192:T:G p.(Ala649=) NC_000002.12:29275192:T:G p.(Ala649=) NC_000002.12:29275192:T:G Identity +NM_021072.4:c.1950A>C NP_066550.2:p.Thr650= NC_000005.10:45262643:T:G p.(Thr650=) NC_000005.10:45262643:T:G p.(Thr650=) NC_000005.10:45262643:T:G Identity +NM_001040113.2:c.1974C>T NP_001035202.1:p.Arg658= NC_000016.10:15750242:G:A p.(Arg658=) NC_000016.10:15750242:G:A p.(Arg658=) NC_000016.10:15750242:G:A Identity +NM_001304420.3:c.2005T>C NP_001291349.1:p.Leu669= NC_000003.12:57913192:T:C p.(Leu669=) NC_000003.12:57913192:T:C p.(Leu669=) NC_000003.12:57913192:T:C Identity +NM_001347827.2:c.1956G>A NP_001334756.1:p.Gly652= NC_000004.12:54277959:G:A p.(Gly652=) NC_000004.12:54277959:G:A p.(Gly652=) NC_000004.12:54277959:G:A Identity +NM_000400.4:c.1071C>T NP_000391.1:p.Phe357= NC_000019.10:45363789:G:A p.(Phe357=) NC_000019.10:45363789:G:A p.(Phe357=) NC_000019.10:45363789:G:A Identity +NM_001128844.3:c.1971T>C NP_001122316.1:p.Ser657= NC_000019.10:11003366:T:C p.(Ser657=) NC_000019.10:11003366:T:C p.(Ser657=) NC_000019.10:11003366:T:C Identity +NM_001081640.2:c.1980G>A NP_001075109.1:p.Leu660= NC_000008.11:47929924:C:T p.(Leu660=) NC_000008.11:47929924:C:T p.(Leu660=) NC_000008.11:47929924:C:T Identity +NM_000388.4:c.1986C>T NP_000379.3:p.Phe662= NC_000003.12:122283939:C:T p.(Phe662=) NC_000003.12:122283939:C:T p.(Phe662=) NC_000003.12:122283939:C:T Identity +NM_001211.6:c.1995C>T NP_001202.5:p.Ser665= NC_000015.10:40206443:C:T p.(Ser665=) NC_000015.10:40206443:C:T p.(Ser665=) NC_000015.10:40206443:C:T Identity +NM_001287247.2:c.1995G>A NP_001274176.1:p.Leu665= NC_000015.10:90763077:G:A p.(Leu665=) NC_000015.10:90763077:G:A p.(Leu665=) NC_000015.10:90763077:G:A Identity +NM_000152.5:c.1998C>T NP_000143.2:p.Ala666= NC_000017.11:80112984:C:T p.(Ala666=) NC_000017.11:80112984:C:T p.(Ala666=) NC_000017.11:80112984:C:T Identity +NM_001014431.2:c.199C>A NP_001014431.1:p.Arg67= NC_000014.9:104776746:G:T p.(Arg67=) NC_000014.9:104776746:G:T p.(Arg67=) NC_000014.9:104776746:G:T Identity +NM_006767.4:c.2001_2002del NP_006758.2:p.Cys667_Asp668delinsTer NC_000022.11:20995801:TGTG:TG p.(Cys667Ter) NC_000022.11:20995801:TGTG:TG p.(Cys667Ter) NC_000022.11:20995803:TG: Analogous +NM_001098623.2:c.2001G>A NP_001092093.2:p.Thr667= NC_000001.11:228215734:G:A p.(Thr667=) NC_000001.11:228215734:G:A p.(Thr667=) NC_000001.11:228215734:G:A Identity +NM_001128844.3:c.2007G>A NP_001122316.1:p.Glu669= NC_000019.10:11007906:G:A p.(Glu669=) NC_000019.10:11007906:G:A p.(Glu669=) NC_000019.10:11007906:G:A Identity +NM_002471.4:c.2010C>T NP_002462.2:p.His670= NC_000014.9:23397209:G:A p.(His670=) NC_000014.9:23397209:G:A p.(His670=) NC_000014.9:23397209:G:A Identity +NM_005585.5:c.1074C>T NP_005576.3:p.Tyr358= NC_000015.10:66781117:C:T p.(Tyr358=) NC_000015.10:66781117:C:T p.(Tyr358=) NC_000015.10:66781117:C:T Identity +NM_001430.5:c.2016T>C NP_001421.2:p.Ser672= NC_000002.12:46380687:T:C p.(Ser672=) NC_000002.12:46380687:T:C p.(Ser672=) NC_000002.12:46380687:T:C Identity +NM_001178133.2:c.201C>T NP_001171604.1:p.Pro67= NC_000010.11:102509186:C:T p.(Pro67=) NC_000010.11:102509186:C:T p.(Pro67=) NC_000010.11:102509186:C:T Identity +NM_001184.4:c.1006C>A NP_001175.2:p.Arg336= NC_000003.12:142562395:G:T p.(Arg336=) NC_000003.12:142562395:G:T p.(Arg336=) NC_000003.12:142562395:G:T Identity +NM_001195573.1:c.2028A>G NP_001182502.1:p.Arg676= NC_000014.9:95113103:T:C p.(Arg676=) NC_000014.9:95113103:T:C p.(Arg676=) NC_000014.9:95113103:T:C Identity +NM_001256850.1:c.42576G>A NP_001243779.1:p.Val14192= NC_000002.12:178617851:C:T p.(Val14192=) NC_000002.12:178617851:C:T p.(Val14192=) NC_000002.12:178617851:C:T Identity +NM_003276.2:c.2034A>G NP_003267.1:p.Leu678= NC_000012.12:98534290:A:G p.(Leu678=) NC_000012.12:98534290:A:G p.(Leu678=) NC_000012.12:98534290:A:G Identity +NM_000051.4:c.2058C>A NP_000042.3:p.Leu686= NC_000011.10:108253972:C:A p.(Leu686=) NC_000011.10:108253972:C:A p.(Leu686=) NC_000011.10:108253972:C:A Identity +NM_001430.5:c.2058T>C NP_001421.2:p.Gly686= NC_000002.12:46381607:T:C p.(Gly686=) NC_000002.12:46381607:T:C p.(Gly686=) NC_000002.12:46381607:T:C Identity +NM_000088.4:c.1077G>T NP_000079.2:p.Gly359= NC_000017.11:50195644:C:A p.(Gly359=) NC_000017.11:50195644:C:A p.(Gly359=) NC_000017.11:50195644:C:A Identity +NM_000492.4:c.2067G>A NP_000483.3:p.Gln689= NC_000007.14:117592233:G:A p.(Gln689=) NC_000007.14:117592233:G:A p.(Gln689=) NC_000007.14:117592233:G:A Identity +NM_052947.4:c.2073C>T NP_443179.3:p.Phe691= NC_000018.10:58538113:G:A p.(Phe691=) NC_000018.10:58538113:G:A p.(Phe691=) NC_000018.10:58538113:G:A Identity +NM_000321.3:c.2079A>G NP_000312.2:p.Glu693= NC_000013.11:48459805:A:G p.(Glu693=) NC_000013.11:48459805:A:G p.(Glu693=) NC_000013.11:48459805:A:G Identity +NM_001317184.2:c.1896C>G NP_001304113.1:p.Gly632= NC_000016.10:68823540:C:G p.(Gly632=) NC_000016.10:68823540:C:G p.(Gly632=) NC_000016.10:68823540:C:G Identity +NM_198578.4:c.2091G>A NP_940980.4:p.Lys697= NC_000012.12:40278110:G:A p.(Lys697=) NC_000012.12:40278110:G:A p.(Lys697=) NC_000012.12:40278110:G:A Identity +NM_001211.6:c.2094C>T NP_001202.5:p.Ile698= NC_000015.10:40208720:C:T p.(Ile698=) NC_000015.10:40208720:C:T p.(Ile698=) NC_000015.10:40208720:C:T Identity +NM_006231.4:c.2100A>G NP_006222.2:p.Pro700= NC_000012.12:132668428:T:C p.(Pro700=) NC_000012.12:132668428:T:C p.(Pro700=) NC_000012.12:132668428:T:C Identity +NM_001142548.2:c.2106C>T NP_001136020.1:p.Asp702= NC_000001.11:46278143:C:T p.(Asp702=) NC_000001.11:46278143:C:T p.(Asp702=) NC_000001.11:46278143:C:T Identity +NM_004304.5:c.2112C>G NP_004295.2:p.Ala704= NC_000002.12:29251196:G:C p.(Ala704=) NC_000002.12:29251196:G:C p.(Ala704=) NC_000002.12:29251196:G:C Identity +NM_001193455.2:c.2014T>C NP_001180384.1:p.Leu672= NC_000005.10:6600110:A:G p.(Leu672=) NC_000005.10:6600110:A:G p.(Leu672=) NC_000005.10:6600110:A:G Identity +NM_000251.3:c.2131C>A NP_000242.1:p.Arg711= NC_000002.12:47476491:C:A p.(Arg711=) NC_000002.12:47476491:C:A p.(Arg711=) NC_000002.12:47476491:C:A Identity +NM_001367624.2:c.2133G>A NP_001354553.1:p.Pro711= NC_000016.10:88429602:G:A p.(Pro711=) NC_000016.10:88429602:G:A p.(Pro711=) NC_000016.10:88429602:G:A Identity +NM_001098623.2:c.10812G>C NP_001092093.2:p.Gly3604= NC_000001.11:228292730:G:C p.(Gly3604=) NC_000001.11:228292730:G:C p.(Gly3604=) NC_000001.11:228292730:G:C Identity +NM_001363813.1:c.1944G>A NP_001350742.1:p.Gln648= NC_000017.11:65536321:C:T p.(Gln648=) NC_000017.11:65536321:C:T p.(Gln648=) NC_000017.11:65536321:C:T Identity +NM_001377273.1:c.2139T>C NP_001364202.1:p.Ser713= NC_000012.12:21872683:A:G p.(Ser713=) NC_000012.12:21872683:A:G p.(Ser713=) NC_000012.12:21872683:A:G Identity +NM_001407094.1:c.213C>A NP_001394023.1:p.Ile71= NC_000014.9:65077994:G:T p.(Ile71=) NC_000014.9:65077994:G:T p.(Ile71=) NC_000014.9:65077994:G:T Identity +NM_001184.4:c.2148T>C NP_001175.2:p.Cys716= NC_000003.12:142556069:A:G p.(Cys716=) NC_000003.12:142556069:A:G p.(Cys716=) NC_000003.12:142556069:A:G Identity +NM_001089.3:c.2163C>T NP_001080.2:p.His721= NC_000016.10:2297428:G:A p.(His721=) NC_000016.10:2297428:G:A p.(His721=) NC_000016.10:2297428:G:A Identity +NM_000492.4:c.216C>G NP_000483.3:p.Ala72= NC_000007.14:117509084:C:G p.(Ala72=) NC_000007.14:117509084:C:G p.(Ala72=) NC_000007.14:117509084:C:G Identity +NM_002317.7:c.216G>C NP_002308.2:p.Pro72= NC_000005.10:122077769:C:G p.(Pro72=) NC_000005.10:122077769:C:G p.(Pro72=) NC_000005.10:122077769:C:G Identity +LRG_746t1:c.216T>G LRG_746p1:p.Pro72= NC_000007.14:92447944:T:G ERR:Data provider error: ValueError: Transcript LRG_746t1 not found ERR:Data provider error: ValueError: Transcript LRG_746t1 not found ERR:AlignmentMapper(tx_ac=LRG_746t1, alt_ac=LRG_746t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_746t1, alt_ac=LRG_746t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_746t1 not found +NM_001321307.1:c.2172T>G NP_001308236.1:p.Pro724= NC_000011.10:108172811:A:C p.(Pro724=) NC_000011.10:108172811:A:C p.(Pro724=) NC_000011.10:108172811:A:C Identity +NM_006073.4:c.2189A>G NP_006064.2:p.Ter730= NC_000006.12:123218601:T:C p.(Ter730=) NC_000006.12:123218601:T:C p.(Ter730Ter) NC_000006.12:123218601:T:C Identity +NM_000535.7:c.2191T>C NP_000526.2:p.Leu731= NC_000007.14:5978679:A:G p.(Leu731=) NC_000007.14:5978679:A:G p.(Leu731=) NC_000007.14:5978679:A:G Identity +NM_001166108.2:c.219A>C NP_001159580.1:p.Ala73= NC_000004.12:168511722:A:C p.(Ala73=) NC_000004.12:168511722:A:C p.(Ala73=) NC_000004.12:168511722:A:C Identity +NM_004281.4:c.219C>T NP_004272.2:p.Gly73= NC_000010.11:119669888:C:T p.(Gly73=) NC_000010.11:119669888:C:T p.(Gly73=) NC_000010.11:119669888:C:T Identity +NM_007272.3:c.21C>A NP_009203.2:p.Leu7= NC_000001.11:15438484:C:A p.(Leu7=) NC_000001.11:15438484:C:A p.(Leu7=) NC_000001.11:15438484:C:A Identity +NM_052947.4:c.2208C>T NP_443179.3:p.Asp736= NC_000018.10:58537978:G:A p.(Asp736=) NC_000018.10:58537978:G:A p.(Asp736=) NC_000018.10:58537978:G:A Identity +NM_005477.3:c.2214G>A NP_005468.1:p.Glu738= NC_000015.10:73323878:C:T p.(Glu738=) NC_000015.10:73323878:C:T p.(Glu738=) NC_000015.10:73323878:C:T Identity +NM_006767.4:c.2217G>C NP_006758.2:p.Ser739= NC_000022.11:20996109:G:C p.(Ser739=) NC_000022.11:20996109:G:C p.(Ser739=) NC_000022.11:20996109:G:C Identity +NM_001346599.2:c.1995T>C NP_001333528.1:p.Ser665= NC_000007.14:105567160:T:C p.(Ser665=) NC_000007.14:105567160:T:C p.(Ser665=) NC_000007.14:105567160:T:C Identity +LRG_218t1:c.2253_2283del31 LRG_218p1:p.Arg752Terfs NC_000002.12:47478308:TTGGGAAGAGGAACTTCTACCTACGATGGATTTGGG:TTGGG ERR:Data provider error: ValueError: Transcript LRG_218t1 not found ERR:Data provider error: ValueError: Transcript LRG_218t1 not found ERR:AlignmentMapper(tx_ac=LRG_218t1, alt_ac=LRG_218t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_218t1, alt_ac=LRG_218t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_218t1 not found +NM_000057.4:c.2256G>A NP_000048.1:p.Gln752= NC_000015.10:90766971:G:A p.(Gln752=) NC_000015.10:90766971:G:A p.(Gln752=) NC_000015.10:90766971:G:A Identity +NM_001406559.1:c.225A>T NP_001393488.1:p.Thr75= NC_000010.11:86890218:A:T p.(Thr75=) NC_000010.11:86890218:A:T p.(Thr75=) NC_000010.11:86890218:A:T Identity +NM_020778.5:c.483G>C NP_065829.4:p.Val161= NC_000015.10:84839761:G:C p.(Val161=) NC_000015.10:84839761:G:C p.(Val161=) NC_000015.10:84839761:G:C Identity +NM_000251.3:c.225G>A NP_000242.1:p.Leu75= NC_000002.12:47408413:G:A p.(Leu75=) NC_000002.12:47408413:G:A p.(Leu75=) NC_000002.12:47408413:G:A Identity +NM_000251.3:c.225G>T NP_000242.1:p.Leu75= NC_000002.12:47408413:G:T p.(Leu75=) NC_000002.12:47408413:G:T p.(Leu75=) NC_000002.12:47408413:G:T Identity +NM_000051.4:c.225G>T NP_000042.3:p.Leu75= NC_000011.10:108229216:G:T p.(Leu75=) NC_000011.10:108229216:G:T p.(Leu75=) NC_000011.10:108229216:G:T Identity +NM_153252.5:c.225T>C NP_694984.5:p.Ile75= NC_000023.11:80793727:A:G p.(Ile75=) NC_000023.11:80793727:A:G p.(Ile75=) NC_000023.11:80793727:A:G Identity +NM_032043.3:c.2262A>G NP_114432.2:p.Gly754= NC_000017.11:61743129:T:C p.(Gly754=) NC_000017.11:61743129:T:C p.(Gly754=) NC_000017.11:61743129:T:C Identity +NM_198578.4:c.2269T>C NP_940980.4:p.Leu757= NC_000012.12:40283901:T:C p.(Leu757=) NC_000012.12:40283901:T:C p.(Leu757=) NC_000012.12:40283901:T:C Identity +NM_001365951.3:c.2409T>G NP_001352880.1:p.Pro803= NC_000001.11:10323933:T:G p.(Pro803=) NC_000001.11:10323933:T:G p.(Pro803=) NC_000001.11:10323933:T:G Identity +NM_007272.3:c.108C>T NP_009203.2:p.Ala36= NC_000001.11:15440366:C:T p.(Ala36=) NC_000001.11:15440366:C:T p.(Ala36=) NC_000001.11:15440366:C:T Identity +NM_001166660.2:c.2217C>A NP_001160132.1:p.Pro739= NC_000023.11:71169886:C:A p.(Pro739=) NC_000023.11:71169886:C:A p.(Pro739=) NC_000023.11:71169886:C:A Identity +NM_004304.5:c.2280G>T NP_004295.2:p.Leu760= NC_000002.12:29239754:C:A p.(Leu760=) NC_000002.12:29239754:C:A p.(Leu760=) NC_000002.12:29239754:C:A Identity +NM_001040113.2:c.2313G>A NP_001035202.1:p.Gly771= NC_000016.10:15747688:C:T p.(Gly771=) NC_000016.10:15747688:C:T p.(Gly771=) NC_000016.10:15747688:C:T Identity +NM_001127500.3:c.2295C>T NP_001120972.1:p.Val765= NC_000007.14:116759366:C:T p.(Val765=) NC_000007.14:116759366:C:T p.(Val765=) NC_000007.14:116759366:C:T Identity +NM_001005476.4:c.2298C>T NP_001005476.1:p.Asn766= NC_000002.12:158662982:C:T p.(Asn766=) NC_000002.12:158662982:C:T p.(Asn766=) NC_000002.12:158662982:C:T Identity +NM_052947.4:c.2304C>T NP_443179.3:p.Phe768= NC_000018.10:58537882:G:A p.(Phe768=) NC_000018.10:58537882:G:A p.(Phe768=) NC_000018.10:58537882:G:A Identity +NM_001166108.2:c.2355T>C NP_001159580.1:p.Asp785= NC_000004.12:168898596:T:C p.(Asp785=) NC_000004.12:168898596:T:C p.(Asp785=) NC_000004.12:168898596:T:C Identity +NM_002878.4:c.231C>A NP_002869.3:p.Thr77= NC_000017.11:35118532:G:T p.(Thr77=) NC_000017.11:35118532:G:T p.(Thr77=) NC_000017.11:35118532:G:T Identity +NM_001430.5:c.231C>T NP_001421.2:p.Asn77= NC_000002.12:46356163:C:T p.(Asn77=) NC_000002.12:46356163:C:T p.(Asn77=) NC_000002.12:46356163:C:T Identity +NM_001354966.2:c.231G>C NP_001341895.1:p.Gly77= NC_000005.10:147824669:C:G p.(Gly77=) NC_000005.10:147824669:C:G p.(Gly77=) NC_000005.10:147824669:C:G Identity +NM_001195573.1:c.2328T>C NP_001182502.1:p.Val776= NC_000014.9:95108431:A:G p.(Val776=) NC_000014.9:95108431:A:G p.(Val776=) NC_000014.9:95108431:A:G Identity +NM_001395681.1:c.2340T>G NP_001382610.1:p.Pro780= NC_000014.9:95108419:A:C ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found ERR:AlignmentMapper(tx_ac=NM_001395681.1, alt_ac=NM_001395681.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001395681.1, alt_ac=NM_001395681.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found +NM_001184.4:c.2343T>C NP_001175.2:p.Ala781= NC_000003.12:142554013:A:G p.(Ala781=) NC_000003.12:142554013:A:G p.(Ala781=) NC_000003.12:142554013:A:G Identity +NM_001368719.1:c.234A>G NP_001355648.1:p.Gln78= NC_000015.10:32730923:A:G p.(Gln78=) NC_000015.10:32730923:A:G p.(Gln78=) NC_000015.10:32730923:A:G Identity +NM_001346599.2:c.2118G>A NP_001333528.1:p.Arg706= NC_000007.14:105567283:G:A p.(Arg706=) NC_000007.14:105567283:G:A p.(Arg706=) NC_000007.14:105567283:G:A Identity +NM_005431.2:c.235T>C NP_005422.1:p.Leu79= NC_000007.14:152649249:A:G p.(Leu79=) NC_000007.14:152649249:A:G p.(Leu79=) NC_000007.14:152649249:A:G Identity +NM_001105243.2:c.2226A>G NP_001098713.1:p.Val742= NC_000023.11:100402772:T:C p.(Val742=) NC_000023.11:100402772:T:C p.(Val742=) NC_000023.11:100402772:T:C Identity +NM_018975.4:c.1095A>G NP_061848.2:p.Gln365= NC_000016.10:75656505:A:G p.(Gln365=) NC_000016.10:75656505:A:G p.(Gln365=) NC_000016.10:75656505:A:G Identity +NM_001377260.1:c.237G>A NP_001364189.1:p.Pro79= NC_000001.11:231421651:C:T p.(Pro79=) NC_000001.11:231421651:C:T p.(Pro79=) NC_000001.11:231421651:C:T Identity +NM_001048171.2:c.1011G>A NP_001041636.2:p.Lys337= NC_000001.11:45331751:C:T p.(Lys337=) NC_000001.11:45331751:C:T p.(Lys337=) NC_000001.11:45331751:C:T Identity +NM_001079802.2:c.1095T>A NP_001073270.1:p.Leu365= NC_000009.12:105619983:T:A p.(Leu365=) NC_000009.12:105619983:T:A p.(Leu365=) NC_000009.12:105619983:T:A Identity +NM_001367624.2:c.2406C>T NP_001354553.1:p.Asp802= NC_000016.10:88429875:C:T p.(Asp802=) NC_000016.10:88429875:C:T p.(Asp802=) NC_000016.10:88429875:C:T Identity +NM_000548.5:c.240A>T NP_000539.2:p.Ala80= NC_000016.10:2053355:A:T p.(Ala80=) NC_000016.10:2053355:A:T p.(Ala80=) NC_000016.10:2053355:A:T Identity +NM_001407041.1:c.240G>A NP_001393970.1:p.Gly80= NC_000018.10:51047285:G:A p.(Gly80=) NC_000018.10:51047285:G:A p.(Gly80=) NC_000018.10:51047285:G:A Identity +NM_001430.5:c.2424C>T NP_001421.2:p.Tyr808= NC_000002.12:46382560:C:T p.(Tyr808=) NC_000002.12:46382560:C:T p.(Tyr808=) NC_000002.12:46382560:C:T Identity +NM_001098623.2:c.10980G>T NP_001092093.2:p.Gly3660= NC_000001.11:228293464:G:T p.(Gly3660=) NC_000001.11:228293464:G:T p.(Gly3660=) NC_000001.11:228293464:G:T Identity +NM_001256850.1:c.46536T>C NP_001243779.1:p.Asp15512= NC_000002.12:178609963:A:G p.(Asp15512=) NC_000002.12:178609963:A:G p.(Asp15512=) NC_000002.12:178609963:A:G Identity +NM_001430.5:c.243C>T NP_001421.2:p.Ala81= NC_000002.12:46356175:C:T p.(Ala81=) NC_000002.12:46356175:C:T p.(Ala81=) NC_000002.12:46356175:C:T Identity +NM_001173484.2:c.459C>T NP_001166955.1:p.Val153= NC_000010.11:20812838:G:A p.(Val153=) NC_000010.11:20812838:G:A p.(Val153=) NC_000010.11:20812838:G:A Identity +NM_020778.5:c.1845G>A NP_065829.4:p.Lys615= NC_000015.10:84856582:G:A p.(Lys615=) NC_000015.10:84856582:G:A p.(Lys615=) NC_000015.10:84856582:G:A Identity +NM_004304.5:c.2460A>G NP_004295.2:p.Gly820= NC_000002.12:29233591:T:C p.(Gly820=) NC_000002.12:29233591:T:C p.(Gly820=) NC_000002.12:29233591:T:C Identity +NM_000321.3:c.2466A>C NP_000312.2:p.Pro822= NC_000013.11:48465344:A:C p.(Pro822=) NC_000013.11:48465344:A:C p.(Pro822=) NC_000013.11:48465344:A:C Identity +NM_001256849.1:c.2469C>T NP_001243778.1:p.Arg823= NC_000019.10:50414894:C:T p.(Arg823=) NC_000019.10:50414894:C:T p.(Arg823=) NC_000019.10:50414894:C:T Identity +NM_000088.4:c.246C>G NP_000079.2:p.Pro82= NC_000017.11:50199804:G:C p.(Pro82=) NC_000017.11:50199804:G:C p.(Pro82=) NC_000017.11:50199804:G:C Identity +NM_001005476.4:c.2475G>A NP_001005476.1:p.Ser825= NC_000002.12:158663342:G:A p.(Ser825=) NC_000002.12:158663342:G:A p.(Ser825=) NC_000002.12:158663342:G:A Identity +NM_032043.3:c.2481G>A NP_114432.2:p.Gln827= NC_000017.11:61715961:C:T p.(Gln827=) NC_000017.11:61715961:C:T p.(Gln827=) NC_000017.11:61715961:C:T Identity +NM_001321307.1:c.2481T>G NP_001308236.1:p.Thr827= NC_000011.10:108172502:A:C p.(Thr827=) NC_000011.10:108172502:A:C p.(Thr827=) NC_000011.10:108172502:A:C Identity +NM_001317184.2:c.2307G>T NP_001304113.1:p.Leu769= NC_000016.10:68833339:G:T p.(Leu769=) NC_000016.10:68833339:G:T p.(Leu769=) NC_000016.10:68833339:G:T Identity +NM_001282403.2:c.249T>A NP_001269332.1:p.Pro83= NC_000007.14:76057422:T:A p.(Pro83=) NC_000007.14:76057422:T:A p.(Pro83=) NC_000007.14:76057422:T:A Identity +NM_001367624.2:c.11088A>T NP_001354553.1:p.Pro3696= NC_000016.10:88438557:A:T p.(Pro3696=) NC_000016.10:88438557:A:T p.(Pro3696=) NC_000016.10:88438557:A:T Identity +NM_002432.3:c.24T>A NP_002423.1:p.Ile8= NC_000001.11:158842176:T:A p.(Ile8=) NC_000001.11:158842176:T:A p.(Ile8=) NC_000001.11:158842176:T:A Identity +NM_001035.3:c.2502G>A NP_001026.2:p.Val834= NC_000001.11:237503393:G:A p.(Val834=) NC_000001.11:237503393:G:A p.(Val834=) NC_000001.11:237503393:G:A Identity +NM_001411020.1:c.2427T>C NP_001397949.1:p.Asn809= NC_000014.9:50145310:A:G p.(Asn809=) NC_000014.9:50145310:A:G p.(Asn809=) NC_000014.9:50145310:A:G Identity +NM_001430.5:c.2526T>C NP_001421.2:p.Tyr842= NC_000002.12:46384572:T:C p.(Tyr842=) NC_000002.12:46384572:T:C p.(Tyr842=) NC_000002.12:46384572:T:C Identity +NM_001365951.3:c.2667T>C NP_001352880.1:p.Leu889= NC_000001.11:10324886:T:C p.(Leu889=) NC_000001.11:10324886:T:C p.(Leu889=) NC_000001.11:10324886:T:C Identity +NM_001407731.1:c.2409T>C NP_001394660.1:p.Ser803= NC_000017.11:43092980:A:G p.(Ser803=) NC_000017.11:43092980:A:G p.(Ser803=) NC_000017.11:43092980:A:G Identity +NM_002439.5:c.2550T>C NP_002430.3:p.Thr850= NC_000005.10:80792738:T:C p.(Thr850=) NC_000005.10:80792738:T:C p.(Thr850=) NC_000005.10:80792738:T:C Identity +NM_000038.6:c.2553T>C NP_000029.2:p.Ser851= NC_000005.10:112838146:T:C p.(Ser851=) NC_000005.10:112838146:T:C p.(Ser851=) NC_000005.10:112838146:T:C Identity +NM_001195227.2:c.255C>A NP_001182156.1:p.Arg85= NC_000019.10:49166202:C:A p.(Arg85=) NC_000019.10:49166202:C:A p.(Arg85=) NC_000019.10:49166202:C:A Identity +NM_018975.4:c.255G>C NP_061848.2:p.Leu85= NC_000016.10:75648136:G:C p.(Leu85=) NC_000016.10:75648136:G:C p.(Leu85=) NC_000016.10:75648136:G:C Identity +NM_001943.5:c.2562A>G NP_001934.2:p.Arg854= NC_000018.10:31545947:A:G p.(Arg854=) NC_000018.10:31545947:A:G p.(Arg854=) NC_000018.10:31545947:A:G Identity +NM_001128844.3:c.2565C>G NP_001122316.1:p.Val855= NC_000019.10:11019649:C:G p.(Val855=) NC_000019.10:11019649:C:G p.(Val855=) NC_000019.10:11019649:C:G Identity +NM_020774.4:c.2574A>G NP_065825.1:p.Gln858= NC_000018.10:21849375:A:G p.(Gln858=) NC_000018.10:21849375:A:G p.(Gln858=) NC_000018.10:21849375:A:G Identity +NM_000059.4:c.10092T>C NP_000050.3:p.Ser3364= NC_000013.11:32398604:T:C p.(Ser3364=) NC_000013.11:32398604:T:C p.(Ser3364=) NC_000013.11:32398604:T:C Identity +NM_052947.4:c.2578C>T NP_443179.3:p.Leu860= NC_000018.10:58537608:G:A p.(Leu860=) NC_000018.10:58537608:G:A p.(Leu860=) NC_000018.10:58537608:G:A Identity +NM_001352020.1:c.258C>A NP_001338949.1:p.Pro86= NC_000016.10:954601:G:T p.(Pro86=) NC_000016.10:954601:G:T p.(Pro86=) NC_000016.10:954601:G:T Identity +NM_001290307.3:c.258C>G NP_001277236.1:p.Leu86= NC_000005.10:138783328:C:G p.(Leu86=) NC_000005.10:138783328:C:G p.(Leu86=) NC_000005.10:138783328:C:G Identity +NM_000057.4:c.258C>G NP_000048.1:p.Val86= NC_000015.10:90749525:C:G p.(Val86=) NC_000015.10:90749525:C:G p.(Val86=) NC_000015.10:90749525:C:G Identity +NM_000492.4:c.258C>T NP_000483.3:p.Ile86= NC_000007.14:117509126:C:T p.(Ile86=) NC_000007.14:117509126:C:T p.(Ile86=) NC_000007.14:117509126:C:T Identity +NM_000051.4:c.2592T>C NP_000042.3:p.Ser864= NC_000011.10:108267295:T:C p.(Ser864=) NC_000011.10:108267295:T:C p.(Ser864=) NC_000011.10:108267295:T:C Identity +NM_001365276.2:c.2598G>A NP_001352205.1:p.Glu866= NC_000006.12:32088965:C:T p.(Glu866=) NC_000006.12:32088965:C:T p.(Glu866=) NC_000006.12:32088965:C:T Identity +NM_001282531.3:c.2601C>T NP_001269460.1:p.Asn867= NC_000020.11:50892112:G:A p.(Asn867=) NC_000020.11:50892112:G:A p.(Asn867=) NC_000020.11:50892112:G:A Identity +NM_001127510.3:c.2622A>G NP_001120982.1:p.Ser874= NC_000005.10:112838215:A:G p.(Ser874=) NC_000005.10:112838215:A:G p.(Ser874=) NC_000005.10:112838215:A:G Identity +NM_001040108.2:c.2622C>G NP_001035197.1:p.Ala874= NC_000014.9:75047033:G:C p.(Ala874=) NC_000014.9:75047033:G:C p.(Ala874=) NC_000014.9:75047033:G:C Identity +NM_000038.6:c.2643C>A NP_000029.2:p.Ser881= NC_000005.10:112838236:C:A p.(Ser881=) NC_000005.10:112838236:C:A p.(Ser881=) NC_000005.10:112838236:C:A Identity +NM_001164270.2:c.264T>C NP_001157742.1:p.Thr88= NC_000015.10:40706214:T:C p.(Thr88=) NC_000015.10:40706214:T:C p.(Thr88=) NC_000015.10:40706214:T:C Identity +NM_000256.3:c.2655G>C NP_000247.2:p.Thr885= NC_000011.10:47335958:C:G p.(Thr885=) NC_000011.10:47335958:C:G p.(Thr885=) NC_000011.10:47335958:C:G Identity +NM_032043.3:c.2667A>G NP_114432.2:p.Gln889= NC_000017.11:61686073:T:C p.(Gln889=) NC_000017.11:61686073:T:C p.(Gln889=) NC_000017.11:61686073:T:C Identity +NM_001035.3:c.2670T>C NP_001026.2:p.His890= NC_000001.11:237506765:T:C p.(His890=) NC_000001.11:237506765:T:C p.(His890=) NC_000001.11:237506765:T:C Identity +NM_001127487.2:c.267C>G NP_001120959.1:p.Arg89= NC_000007.14:128830903:C:G p.(Arg89=) NC_000007.14:128830903:C:G p.(Arg89=) NC_000007.14:128830903:C:G Identity +NM_000238.4:c.2690delinsCGGACAC NP_000229.1:p.Lys897delinsThrAspThr NC_000007.14:150948445:T:GTGTCCG p.(Lys897delinsThrAspThr) NC_000007.14:150948445:TT:TGTGTCCG p.(Lys897delinsThrAspThr) NC_000007.14:150948445:T:GTGTCCG Identity +NM_000251.3:c.1110A>C NP_000242.1:p.Ala370= NC_000002.12:47429774:A:C p.(Ala370=) NC_000002.12:47429774:A:C p.(Ala370=) NC_000002.12:47429774:A:C Identity +NM_001211.6:c.2703C>T NP_001202.5:p.Asn901= NC_000015.10:40217519:C:T p.(Asn901=) NC_000015.10:40217519:C:T p.(Asn901=) NC_000015.10:40217519:C:T Identity +NM_001184.4:c.1110C>G NP_001175.2:p.Val370= NC_000003.12:142562291:G:C p.(Val370=) NC_000003.12:142562291:G:C p.(Val370=) NC_000003.12:142562291:G:C Identity +NM_199420.4:c.2706C>T NP_955452.3:p.Ala902= NC_000003.12:121490224:G:A p.(Ala902=) NC_000003.12:121490224:G:A p.(Ala902=) NC_000003.12:121490224:G:A Identity +NM_001357321.2:c.271C>T NP_001344250.1:p.Leu91= NC_000002.12:43846259:C:T p.(Leu91=) NC_000002.12:43846259:C:T p.(Leu91=) NC_000002.12:43846259:C:T Identity +NM_052947.4:c.2730T>C NP_443179.3:p.Asn910= NC_000018.10:58537456:A:G p.(Asn910=) NC_000018.10:58537456:A:G p.(Asn910=) NC_000018.10:58537456:A:G Identity +NM_001278616.2:c.2679C>A NP_001265545.1:p.Ile893= NC_000002.12:110641350:G:T p.(Ile893=) NC_000002.12:110641350:G:T p.(Ile893=) NC_000002.12:110641350:G:T Identity +NM_001353899.1:c.567C>T NP_001340828.1:p.Phe189= NC_000018.10:47059593:C:T p.(Phe189=) NC_000018.10:47059593:C:T p.(Phe189=) NC_000018.10:47059593:C:T Identity +NM_052947.4:c.2742G>A NP_443179.3:p.Val914= NC_000018.10:58537444:C:T p.(Val914=) NC_000018.10:58537444:C:T p.(Val914=) NC_000018.10:58537444:C:T Identity +NM_006231.4:c.2748G>T NP_006222.2:p.Pro916= NC_000012.12:132661642:C:A p.(Pro916=) NC_000012.12:132661642:C:A p.(Pro916=) NC_000012.12:132661642:C:A Identity +NM_001035512.3:c.174C>A NP_001030589.1:p.Leu58= NC_000001.11:161356710:C:A p.(Leu58=) NC_000001.11:161356710:C:A p.(Leu58=) NC_000001.11:161356710:C:A Identity +NM_002439.5:c.2775A>G NP_002430.3:p.Glu925= NC_000005.10:80813702:A:G p.(Glu925=) NC_000005.10:80813702:A:G p.(Glu925=) NC_000005.10:80813702:A:G Identity +NM_198578.4:c.2778A>T NP_940980.4:p.Ser926= NC_000012.12:40293632:A:T p.(Ser926=) NC_000012.12:40293632:A:T p.(Ser926=) NC_000012.12:40293632:A:T Identity +NM_005751.5:c.2781A>G NP_005742.4:p.Thr927= NC_000007.14:92002697:A:G p.(Thr927=) NC_000007.14:92002697:A:G p.(Thr927=) NC_000007.14:92002697:A:G Identity +NM_001005476.4:c.2781C>T NP_001005476.1:p.Pro927= NC_000002.12:158669771:C:T p.(Pro927=) NC_000002.12:158669771:C:T p.(Pro927=) NC_000002.12:158669771:C:T Identity +NM_001136029.4:c.2763T>G NP_001129501.1:p.Ser921= NC_000022.11:31843800:T:G p.(Ser921=) NC_000022.11:31843800:T:G p.(Ser921=) NC_000022.11:31843800:T:G Identity +NM_199420.4:c.2793T>C NP_955452.3:p.Tyr931= NC_000003.12:121490137:A:G p.(Tyr931=) NC_000003.12:121490137:A:G p.(Tyr931=) NC_000003.12:121490137:A:G Identity +NM_000238.4:c.2799T>C NP_000229.1:p.Ser933= NC_000007.14:150947771:A:G p.(Ser933=) NC_000007.14:150947771:A:G p.(Ser933=) NC_000007.14:150947771:A:G Identity +NM_001105206.3:c.27G>A NP_001098676.2:p.Ser9= NC_000006.12:112254123:C:T p.(Ser9=) NC_000006.12:112254123:C:T p.(Ser9=) NC_000006.12:112254123:C:T Identity +NM_000368.5:c.27G>A NP_000359.1:p.Glu9= NC_000009.12:132928845:C:T p.(Glu9=) NC_000009.12:132928845:C:T p.(Glu9=) NC_000009.12:132928845:C:T Identity +NM_000400.4:c.27G>C NP_000391.1:p.Leu9= NC_000019.10:45370210:C:G p.(Leu9=) NC_000019.10:45370210:C:G p.(Leu9=) NC_000019.10:45370210:C:G Identity +NM_004444.5:c.2802C>T NP_004435.3:p.Gly934= NC_000007.14:100805197:G:A p.(Gly934=) NC_000007.14:100805197:G:A p.(Gly934=) NC_000007.14:100805197:G:A Identity +NM_001943.5:c.2814T>C NP_001934.2:p.Thr938= NC_000018.10:31546199:T:C p.(Thr938=) NC_000018.10:31546199:T:C p.(Thr938=) NC_000018.10:31546199:T:C Identity +NM_000388.4:c.282A>G NP_000379.3:p.Gly94= NC_000003.12:122257176:A:G p.(Gly94=) NC_000003.12:122257176:A:G p.(Gly94=) NC_000003.12:122257176:A:G Identity +NM_000903.3:c.282C>G NP_000894.1:p.Ala94= NC_000016.10:69718143:G:C p.(Ala94=) NC_000016.10:69718143:G:C p.(Ala94=) NC_000016.10:69718143:G:C Identity +NM_005585.5:c.282G>A NP_005576.3:p.Ser94= NC_000015.10:66703539:G:A p.(Ser94=) NC_000015.10:66703539:G:A p.(Ser94=) NC_000015.10:66703539:G:A Identity +NM_000040.3:c.282T>C NP_000031.1:p.Thr94= NC_000011.10:116832865:T:C p.(Thr94=) NC_000011.10:116832865:T:C p.(Thr94=) NC_000011.10:116832865:T:C Identity +NM_001184.4:c.2847T>C NP_001175.2:p.Leu949= NC_000003.12:142550260:A:G p.(Leu949=) NC_000003.12:142550260:A:G p.(Leu949=) NC_000003.12:142550260:A:G Identity +NM_004444.5:c.2850C>T NP_004435.3:p.Ile950= NC_000007.14:100803574:G:A p.(Ile950=) NC_000007.14:100803574:G:A p.(Ile950=) NC_000007.14:100803574:G:A Identity +NM_004064.5:c.285C>T NP_004055.1:p.Pro95= NC_000012.12:12718123:C:T p.(Pro95=) NC_000012.12:12718123:C:T p.(Pro95=) NC_000012.12:12718123:C:T Identity +NM_198578.4:c.2865A>T NP_940980.4:p.Ser955= NC_000012.12:40294900:A:T p.(Ser955=) NC_000012.12:40294900:A:T p.(Ser955=) NC_000012.12:40294900:A:T Identity +NM_001184.4:c.2886A>G NP_001175.2:p.Gln962= NC_000003.12:142550221:T:C p.(Gln962=) NC_000003.12:142550221:T:C p.(Gln962=) NC_000003.12:142550221:T:C Identity +NM_001023.4:c.288G>A NP_001014.1:p.Glu96= NC_000008.11:56073161:C:T p.(Glu96=) NC_000008.11:56073161:C:T p.(Glu96=) NC_000008.11:56073161:C:T Identity +NM_004304.5:c.28C>T NP_004295.2:p.Leu10= NC_000002.12:29920631:G:A p.(Leu10=) NC_000002.12:29920631:G:A p.(Leu10=) NC_000002.12:29920631:G:A Identity +NM_001007468.3:c.111T>A NP_001007469.1:p.Arg37= NC_000022.11:23791772:T:A p.(Arg37=) NC_000022.11:23791772:T:A p.(Arg37=) NC_000022.11:23791772:T:A Identity +NM_001166108.2:c.2952C>T NP_001159580.1:p.His984= NC_000004.12:168921634:C:T p.(His984=) NC_000004.12:168921634:C:T p.(His984=) NC_000004.12:168921634:C:T Identity +NM_001411020.1:c.2811G>A NP_001397949.1:p.Gln937= NC_000014.9:50138659:C:T p.(Gln937=) NC_000014.9:50138659:C:T p.(Gln937=) NC_000014.9:50138659:C:T Identity +NM_000038.6:c.2916T>C NP_000029.2:p.Gly972= NC_000005.10:112838509:T:C p.(Gly972=) NC_000005.10:112838509:T:C p.(Gly972=) NC_000005.10:112838509:T:C Identity +NM_004304.5:c.291G>A NP_004295.2:p.Pro97= NC_000002.12:29920368:C:T p.(Pro97=) NC_000002.12:29920368:C:T p.(Pro97=) NC_000002.12:29920368:C:T Identity +NM_001184.4:c.2923T>C NP_001175.2:p.Leu975= NC_000003.12:142550184:A:G p.(Leu975=) NC_000003.12:142550184:A:G p.(Leu975=) NC_000003.12:142550184:A:G Identity +NM_001367624.2:c.2928C>T NP_001354553.1:p.Ser976= NC_000016.10:88430397:C:T p.(Ser976=) NC_000016.10:88430397:C:T p.(Ser976=) NC_000016.10:88430397:C:T Identity +NM_000038.6:c.2931T>C NP_000029.2:p.Gly977= NC_000005.10:112838524:T:C p.(Gly977=) NC_000005.10:112838524:T:C p.(Gly977=) NC_000005.10:112838524:T:C Identity +NM_001081640.2:c.2943G>A NP_001075109.1:p.Arg981= NC_000008.11:47904967:C:T p.(Arg981=) NC_000008.11:47904967:C:T p.(Arg981=) NC_000008.11:47904967:C:T Identity +NM_006218.4:c.2943G>A NP_006209.2:p.Gln981= NC_000003.12:179234099:G:A p.(Gln981=) NC_000003.12:179234099:G:A p.(Gln981=) NC_000003.12:179234099:G:A Identity +NM_000059.4:c.2946A>T NP_000050.3:p.Ile982= NC_000013.11:32337300:A:T p.(Ile982=) NC_000013.11:32337300:A:T p.(Ile982=) NC_000013.11:32337300:A:T Identity +NM_000335.5:c.2952C>T NP_000326.2:p.Leu984= NC_000003.12:38581206:G:A p.(Leu984=) NC_000003.12:38581206:G:A p.(Leu984=) NC_000003.12:38581206:G:A Identity +NM_006231.4:c.2961C>A NP_006222.2:p.Ser987= NC_000012.12:132661067:G:T p.(Ser987=) NC_000012.12:132661067:G:T p.(Ser987=) NC_000012.12:132661067:G:T Identity +NM_006231.4:c.2964G>C NP_006222.2:p.Ser988= NC_000012.12:132661064:C:G p.(Ser988=) NC_000012.12:132661064:C:G p.(Ser988=) NC_000012.12:132661064:C:G Identity +NM_000719.7:c.2970A>G NP_000710.5:p.Ala990= NC_000012.12:2605089:A:G p.(Ala990=) NC_000012.12:2605089:A:G p.(Ala990=) NC_000012.12:2605089:A:G Identity +NM_052947.4:c.2973A>C NP_443179.3:p.Thr991= NC_000018.10:58537213:T:G p.(Thr991=) NC_000018.10:58537213:T:G p.(Thr991=) NC_000018.10:58537213:T:G Identity +NM_199420.4:c.2982A>G NP_955452.3:p.Leu994= NC_000003.12:121489948:T:C p.(Leu994=) NC_000003.12:121489948:T:C p.(Leu994=) NC_000003.12:121489948:T:C Identity +NM_001256850.1:c.52146C>T NP_001243779.1:p.Tyr17382= NC_000002.12:178598547:G:A p.(Tyr17382=) NC_000002.12:178598547:G:A p.(Tyr17382=) NC_000002.12:178598547:G:A Identity +NM_001081640.2:c.2988T>A NP_001075109.1:p.Thr996= NC_000008.11:47904922:A:T p.(Thr996=) NC_000008.11:47904922:A:T p.(Thr996=) NC_000008.11:47904922:A:T Identity +NM_001184.4:c.2991T>G NP_001175.2:p.Val997= NC_000003.12:142549658:A:C p.(Val997=) NC_000003.12:142549658:A:C p.(Val997=) NC_000003.12:142549658:A:C Identity +NM_001367624.2:c.11328A>G NP_001354553.1:p.Ala3776= NC_000016.10:88438797:A:G p.(Ala3776=) NC_000016.10:88438797:A:G p.(Ala3776=) NC_000016.10:88438797:A:G Identity +NM_005502.4:c.3006G>A NP_005493.2:p.Gly1002= NC_000009.12:104820023:C:T p.(Gly1002=) NC_000009.12:104820023:C:T p.(Gly1002=) NC_000009.12:104820023:C:T Identity +NM_001321307.1:c.3012A>G NP_001308236.1:p.Gly1004= NC_000011.10:108162178:T:C p.(Gly1004=) NC_000011.10:108162178:T:C p.(Gly1004=) NC_000011.10:108162178:T:C Identity +NM_004304.5:c.3012C>G NP_004295.2:p.Val1004= NC_000002.12:29226976:G:C p.(Val1004=) NC_000002.12:29226976:G:C p.(Val1004=) NC_000002.12:29226976:G:C Identity +NM_001128844.3:c.3012G>A NP_001122316.1:p.Gln1004= NC_000019.10:11024368:G:A p.(Gln1004=) NC_000019.10:11024368:G:A p.(Gln1004=) NC_000019.10:11024368:G:A Identity +NM_000323.2:c.3015G>T NP_000314.1:p.Leu1005= NC_000010.11:43124957:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001256849.1:c.3018C>A NP_001243778.1:p.Ala1006= NC_000019.10:50416673:C:A p.(Ala1006=) NC_000019.10:50416673:C:A p.(Ala1006=) NC_000019.10:50416673:C:A Identity +NM_002769.5:c.303_305delinsCCG NP_002760.1:p.Arg101_Lys102delinsSerArg NC_000007.14:142751875:GAA:CCG p.(Arg101_Lys102delinsSerArg) NC_000007.14:142751875:GAA:CCG p.(Arg101_Lys102delinsSerArg) NC_000007.14:142751875:GAA:CCG Identity +NM_198578.4:c.3039T>G NP_940980.4:p.Leu1013= NC_000012.12:40295586:T:G p.(Leu1013=) NC_000012.12:40295586:T:G p.(Leu1013=) NC_000012.12:40295586:T:G Identity +NM_001410772.1:c.303G>C NP_001397701.1:p.Leu101= NC_000003.12:52408029:C:G p.(Leu101=) NC_000003.12:52408029:C:G p.(Leu101=) NC_000003.12:52408029:C:G Identity +NM_000059.4:c.10107T>G NP_000050.3:p.Thr3369= NC_000013.11:32398619:T:G p.(Thr3369=) NC_000013.11:32398619:T:G p.(Thr3369=) NC_000013.11:32398619:T:G Identity +NM_002876.4:c.306C>A NP_002867.1:p.Thr102= NC_000017.11:58695090:C:A p.(Thr102=) NC_000017.11:58695090:C:A p.(Thr102=) NC_000017.11:58695090:C:A Identity +NM_001330347.2:c.1323G>A NP_001317276.1:p.Glu441= NC_000011.10:94460938:C:T p.(Glu441=) NC_000011.10:94460938:C:T p.(Glu441=) NC_000011.10:94460938:C:T Identity +NM_001330347.2:c.522A>G NP_001317276.1:p.Thr174= NC_000011.10:94478756:T:C p.(Thr174=) NC_000011.10:94478756:T:C p.(Thr174=) NC_000011.10:94478756:T:C Identity +NM_001345962.2:c.261A>G NP_001332891.1:p.Gln87= NC_000004.12:83469039:T:C p.(Gln87=) NC_000004.12:83469039:T:C p.(Gln87=) NC_000004.12:83469039:T:C Identity +NM_001345962.2:c.297C>A NP_001332891.1:p.Ser99= NC_000004.12:83467510:G:T p.(Ser99=) NC_000004.12:83467510:G:T p.(Ser99=) NC_000004.12:83467510:G:T Identity +NM_001034850.3:c.865_870dup NP_001030022.1:p.Pro290_Lys291insCysPro NC_000005.10:16478036:AGGACAA:AGGACAAGGACAA p.(Cys289_Pro290dup) NC_000005.10:16478036:AGGACAA:AGGACAAGGACAA p.(Cys289_Pro290dup) ERR:SPDI Analogous +NM_001330347.2:c.1533T>C NP_001317276.1:p.Asn511= NC_000011.10:94456305:A:G p.(Asn511=) NC_000011.10:94456305:A:G p.(Asn511=) NC_000011.10:94456305:A:G Identity +NM_001330347.2:c.2052T>C NP_001317276.1:p.Asp684= NC_000011.10:94429925:A:G p.(Asp684=) NC_000011.10:94429925:A:G p.(Asp684=) NC_000011.10:94429925:A:G Identity +NM_001330347.2:c.891T>C NP_001317276.1:p.His297= NC_000011.10:94470596:A:G p.(His297=) NC_000011.10:94470596:A:G p.(His297=) NC_000011.10:94470596:A:G Identity +NM_001040616.3:c.1296C>T NP_001035706.2:p.His432= NC_000015.10:100571991:G:A p.(His432=) NC_000015.10:100571991:G:A p.(His432=) NC_000015.10:100571991:G:A Identity +NM_001330347.2:c.672A>G NP_001317276.1:p.Gly224= NC_000011.10:94471746:T:C p.(Gly224=) NC_000011.10:94471746:T:C p.(Gly224=) NC_000011.10:94471746:T:C Identity +NM_001330347.2:c.2085T>C NP_001317276.1:p.Pro695= NC_000011.10:94420163:A:G p.(Pro695=) NC_000011.10:94420163:A:G p.(Pro695=) NC_000011.10:94420163:A:G Identity +NM_001377291.1:c.468A>T NP_001364220.1:p.Ser156= NC_000006.12:70294394:T:A p.(Ser156=) NC_000006.12:70294394:T:A p.(Ser156=) NC_000006.12:70294394:T:A Identity +NM_001077186.2:c.945G>T NP_001070654.1:p.Leu315= NC_000019.10:50230594:G:T p.(Leu315=) NC_000019.10:50230594:G:T p.(Leu315=) NC_000019.10:50230594:G:T Identity +NM_000721.4:c.5898G>C NP_000712.2:p.Leu1966= NC_000001.11:181790555:G:C p.(Leu1966=) NC_000001.11:181790555:G:C p.(Leu1966=) NC_000001.11:181790555:G:C Identity +NM_000051.4:c.3309T>C NP_000042.3:p.Asp1103= NC_000011.10:108279514:T:C p.(Asp1103=) NC_000011.10:108279514:T:C p.(Asp1103=) NC_000011.10:108279514:T:C Identity +NM_148897.3:c.888del NP_683695.1:p.Pro296_Val297insTer NC_000012.12:56923886:A: p.(Val297Ter) NC_000012.12:56923886:A: p.(Val297Ter) NC_000012.12:56923886:A: Analogous +NM_007230.1:c.1270_1286del17insAG NP_009161.1:p.Ala424_Tyr429delinsSer NC_000009.12:137106247:GCCAGGGCCGACAGCTA:AG ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_173500.4:c.2484A>G NP_775771.3:p.Thr828= NC_000015.10:42752761:T:C p.(Thr828=) NC_000015.10:42752761:T:C p.(Thr828=) NC_000015.10:42752761:T:C Identity +NM_000209.4:c.102G>A NP_000200.1:p.Ala34= NC_000013.11:27920239:G:A p.(Ala34=) NC_000013.11:27920239:G:A p.(Ala34=) NC_000013.11:27920239:G:A Identity +NM_000435.3:c.6726C>T NP_000426.2:p.His2242= NC_000019.10:15160901:G:A p.(His2242=) NC_000019.10:15160901:G:A p.(His2242=) NC_000019.10:15160901:G:A Identity +NM_001099952.4:c.5715C>T NP_001093422.2:p.Gly1905= NC_000003.12:4768643:C:T p.(Gly1905=) NC_000003.12:4768643:C:T p.(Gly1905=) NC_000003.12:4768643:C:T Identity +NM_000492.3:c.680_682delTTG NP_000483.3:p.Leu227_Gly228delinsArg NC_000007.14:117535347:TTG: ERR:Data provider error: ValueError: Transcript NM_000492.3 not found ERR:Data provider error: ValueError: Transcript NM_000492.3 not found ERR:AlignmentMapper(tx_ac=NM_000492.3, alt_ac=NM_000492.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000492.3, alt_ac=NM_000492.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000492.3 not found +NM_001145853.1:c.837T>G NP_001139325.1:p.Pro279= NC_000004.12:6295164:T:G p.(Pro279=) NC_000004.12:6295164:T:G p.(Pro279=) NC_000004.12:6295164:T:G Identity +NM_000180.4:c.489T>G NP_000171.1:p.Pro163= NC_000017.11:8003535:T:G p.(Pro163=) NC_000017.11:8003535:T:G p.(Pro163=) NC_000017.11:8003535:T:G Identity +NM_001142800.2:c.7617A>G NP_001136272.1:p.Gly2539= NC_000006.12:63788210:T:C p.(Gly2539=) NC_000006.12:63788210:T:C p.(Gly2539=) NC_000006.12:63788210:T:C Identity +NM_000136.3:c.30T>C NP_000127.2:p.Cys10= NC_000009.12:95249261:A:G p.(Cys10=) NC_000009.12:95249261:A:G p.(Cys10=) NC_000009.12:95249261:A:G Identity +NM_001004356.3:c.714G>T NP_001004356.1:p.Val238= NC_000004.12:1024096:G:T p.(Val238=) NC_000004.12:1024096:G:T p.(Val238=) NC_000004.12:1024096:G:T Identity +NM_024652.6:c.3312C>T NP_078928.3:p.Ser1104= NC_000015.10:101049655:C:T p.(Ser1104=) NC_000015.10:101049655:C:T p.(Ser1104=) NC_000015.10:101049655:C:T Identity +NM_001265612.2:c.6096C>T NP_001252541.1:p.Ala2032= NC_000016.10:58532023:G:A p.(Ala2032=) NC_000016.10:58532023:G:A p.(Ala2032=) NC_000016.10:58532023:G:A Identity +NM_001272071.2:c.63A>G NP_001259000.1:p.Pro21= NC_000023.11:15852461:T:C p.(Pro21=) NC_000023.11:15852461:T:C p.(Pro21=) NC_000023.11:15852461:T:C Identity +NM_018129.4:c.39G>T NP_060599.1:p.Gly13= NC_000017.11:47941713:G:T p.(Gly13=) NC_000017.11:47941713:G:T p.(Gly13=) NC_000017.11:47941713:G:T Identity +NM_001267722.2:c.66C>T NP_001254651.1:p.Gly22= NC_000004.12:56467700:C:T p.(Gly22=) NC_000004.12:56467700:C:T p.(Gly22=) NC_000004.12:56467700:C:T Identity +NM_000069.3:c.2829C>T NP_000060.2:p.Ala943= NC_000001.11:201065861:G:A p.(Ala943=) NC_000001.11:201065861:G:A p.(Ala943=) NC_000001.11:201065861:G:A Identity +NM_001287758.2:c.4572C>T NP_001274687.1:p.Asp1524= NC_000023.11:108160466:G:A p.(Asp1524=) NC_000023.11:108160466:G:A p.(Asp1524=) NC_000023.11:108160466:G:A Identity +NM_001080414.4:c.5649G>A NP_001073883.2:p.Thr1883= NC_000014.9:91273062:C:T p.(Thr1883=) NC_000014.9:91273062:C:T p.(Thr1883=) NC_000014.9:91273062:C:T Identity +NM_001145357.2:c.36G>A NP_001138829.1:p.Val12= NC_000015.10:75430339:C:T p.(Val12=) NC_000015.10:75430339:C:T p.(Val12=) NC_000015.10:75430339:C:T Identity +NM_001330437.2:c.528A>G NP_001317366.1:p.Glu176= NC_000012.12:112454565:A:G p.(Glu176=) NC_000012.12:112454565:A:G p.(Glu176=) NC_000012.12:112454565:A:G Identity +NM_001305878.2:c.147A>G NP_001292807.1:p.Glu49= NC_000008.11:42048830:T:C p.(Glu49=) NC_000008.11:42048830:T:C p.(Glu49=) NC_000008.11:42048830:T:C Identity +NM_001276479.2:c.58C>A NP_001263408.1:p.Arg20= NC_000019.10:5720074:G:T p.(Arg20=) NC_000019.10:5720074:G:T p.(Arg20=) NC_000019.10:5720074:G:T Identity +NM_020638.3:c.189C>T NP_065689.1:p.Gly63= NC_000012.12:4379393:G:A p.(Gly63=) NC_000012.12:4379393:G:A p.(Gly63=) NC_000012.12:4379393:G:A Identity +NM_000052.7:c.4011T>C NP_000043.4:p.Asp1337= NC_000023.11:78043321:T:C p.(Asp1337=) NC_000023.11:78043321:T:C p.(Asp1337=) NC_000023.11:78043321:T:C Identity +NM_001173408.2:c.2556C>T NP_001166879.1:p.Phe852= NC_000002.12:219563478:G:A p.(Phe852=) NC_000002.12:219563478:G:A p.(Phe852=) NC_000002.12:219563478:G:A Identity +NM_001852.4:c.99C>A NP_001843.1:p.Gly33= NC_000001.11:40315640:G:T p.(Gly33=) NC_000001.11:40315640:G:T p.(Gly33=) NC_000001.11:40315640:G:T Identity +NM_001199981.2:c.29_42del NP_001186910.1:p.Ala9_Leu10insTer NC_000002.12:206153636:AGAAAGGCCTACTAAG:AG p.(Leu10Ter) NC_000002.12:206153636:AGAAAGGCCTACTAAG:AG p.(Leu10Ter) NC_000002.12:206153636:AGAAAGGCCTACTA: Analogous +NM_001145472.3:c.411C>T NP_001138944.1:p.Asn137= NC_000018.10:46542730:G:A p.(Asn137=) NC_000018.10:46542730:G:A p.(Asn137=) NC_000018.10:46542730:G:A Identity +NM_001286216.2:c.36C>T NP_001273145.1:p.Ala12= NC_000006.12:43626323:G:A p.(Ala12=) NC_000006.12:43626323:G:A p.(Ala12=) NC_000006.12:43626323:G:A Identity +NM_001372.4:c.9930C>T NP_001363.2:p.Ile3310= NC_000017.11:11854424:C:T p.(Ile3310=) NC_000017.11:11854424:C:T p.(Ile3310=) NC_000017.11:11854424:C:T Identity +NM_003737.4:c.3972C>T NP_003728.1:p.Leu1324= NC_000011.10:6630821:G:A p.(Leu1324=) NC_000011.10:6630821:G:A p.(Leu1324=) NC_000011.10:6630821:G:A Identity +NM_001080467.3:c.3891T>C NP_001073936.1:p.His1297= NC_000018.10:49863279:A:G p.(His1297=) NC_000018.10:49863279:A:G p.(His1297=) NC_000018.10:49863279:A:G Identity +NM_001172631.3:c.3276G>A NP_001166102.1:p.Ser1092= NC_000014.9:102449828:G:A p.(Ser1092=) NC_000014.9:102449828:G:A p.(Ser1092=) NC_000014.9:102449828:G:A Identity +NM_001411101.1:c.2040C>T NP_001398030.1:p.Asp680= NC_000017.11:82920607:C:T p.(Asp680=) NC_000017.11:82920607:C:T p.(Asp680=) NC_000017.11:82920607:C:T Identity +NM_001367830.1:c.879G>A NP_001354759.1:p.Ser293= NC_000019.10:11245706:C:T p.(Ser293=) NC_000019.10:11245706:C:T p.(Ser293=) NC_000019.10:11245706:C:T Identity +NM_001277126.2:c.2535G>A NP_001264055.1:p.Leu845= NC_000019.10:53804004:C:T p.(Leu845=) NC_000019.10:53804004:C:T p.(Leu845=) NC_000019.10:53804004:C:T Identity +NM_001017423.2:c.678C>A NP_001017423.1:p.Val226= NC_000010.11:95633529:G:T p.(Val226=) NC_000010.11:95633529:G:T p.(Val226=) NC_000010.11:95633529:G:T Identity +NM_001288607.2:c.1746T>C NP_001275536.1:p.Arg582= NC_000001.11:150556720:T:C p.(Arg582=) NC_000001.11:150556720:T:C p.(Arg582=) NC_000001.11:150556720:T:C Identity +NM_014762.4:c.474G>A NP_055577.1:p.Glu158= NC_000001.11:54875960:C:T p.(Glu158=) NC_000001.11:54875960:C:T p.(Glu158=) NC_000001.11:54875960:C:T Identity +NM_001303401.2:c.1449C>T NP_001290330.1:p.Thr483= NC_000003.12:101758231:C:T p.(Thr483=) NC_000003.12:101758231:C:T p.(Thr483=) NC_000003.12:101758231:C:T Identity +NM_001304438.2:c.51A>T NP_001291367.1:p.Ser17= NC_000017.11:34581126:A:T p.(Ser17=) NC_000017.11:34581126:A:T p.(Ser17=) NC_000017.11:34581126:A:T Identity +NM_020223.4:c.1329C>T NP_064608.2:p.Asp443= NC_000007.14:256728:C:T p.(Asp443=) NC_000007.14:256728:C:T p.(Asp443=) NC_000007.14:256728:C:T Identity +NM_018060.4:c.1431C>T NP_060530.3:p.Ala477= NC_000001.11:220110888:C:T p.(Ala477=) NC_000001.11:220110888:C:T p.(Ala477=) NC_000001.11:220110888:C:T Identity +NM_172364.5:c.1956G>A NP_758952.4:p.Leu652= NC_000012.12:1858628:C:T p.(Leu652=) NC_000012.12:1858628:C:T p.(Leu652=) NC_000012.12:1858628:C:T Identity +NM_001375.3:c.366C>T NP_001366.1:p.His122= NC_000019.10:12878814:G:A p.(His122=) NC_000019.10:12878814:G:A p.(His122=) NC_000019.10:12878814:G:A Identity +NM_001849.4:c.174C>G NP_001840.3:p.Thr58= NC_000021.9:46112036:C:G p.(Thr58=) NC_000021.9:46112036:C:G p.(Thr58=) NC_000021.9:46112036:C:G Identity +NM_001077416.2:c.843T>C NP_001070884.2:p.Asp281= NC_000016.10:75541435:A:G p.(Asp281=) NC_000016.10:75541435:A:G p.(Asp281=) NC_000016.10:75541435:A:G Identity +NM_001277269.2:c.4138C>A NP_001264198.1:p.Arg1380= NC_000011.10:17606080:C:A p.(Arg1380=) NC_000011.10:17606080:C:A p.(Arg1380=) NC_000011.10:17606080:C:A Identity +NM_001711.6:c.630C>T NP_001702.1:p.Leu210= NC_000023.11:153506592:C:T p.(Leu210=) NC_000023.11:153506592:C:T p.(Leu210=) NC_000023.11:153506592:C:T Identity +NM_145290.4:c.1512G>A NP_660333.2:p.Ala504= NC_000004.12:22424283:C:T p.(Ala504=) NC_000004.12:22424283:C:T p.(Ala504=) NC_000004.12:22424283:C:T Identity +NM_001354768.3:c.585C>G NP_001341697.1:p.Ala195= NC_000014.9:24081364:G:C p.(Ala195=) NC_000014.9:24081364:G:C p.(Ala195=) NC_000014.9:24081364:G:C Identity +NM_001145357.2:c.1158C>T NP_001138829.1:p.Ser386= NC_000015.10:75410136:G:A p.(Ser386=) NC_000015.10:75410136:G:A p.(Ser386=) NC_000015.10:75410136:G:A Identity +NM_001270449.2:c.609T>C NP_001257378.1:p.His203= NC_000012.12:109489982:T:C p.(His203=) NC_000012.12:109489982:T:C p.(His203=) NC_000012.12:109489982:T:C Identity +NM_003906.5:c.2112G>A NP_003897.2:p.Leu704= NC_000021.9:46273471:C:T p.(Leu704=) NC_000021.9:46273471:C:T p.(Leu704=) NC_000021.9:46273471:C:T Identity +NM_001271440.2:c.699C>T NP_001258369.1:p.Ala233= NC_000021.9:44330266:G:A p.(Ala233=) NC_000021.9:44330266:G:A p.(Ala233=) NC_000021.9:44330266:G:A Identity +NM_014989.7:c.1566C>T NP_055804.2:p.Gly522= NC_000006.12:72183036:C:T p.(Gly522=) NC_000006.12:72183036:C:T p.(Gly522=) NC_000006.12:72183036:C:T Identity +NM_000374.5:c.324C>T NP_000365.3:p.Phe108= NC_000001.11:45013640:C:T p.(Phe108=) NC_000001.11:45013640:C:T p.(Phe108=) NC_000001.11:45013640:C:T Identity +NM_001190983.2:c.477C>T NP_001177912.1:p.Ala159= NC_000016.10:19078094:C:T p.(Ala159=) NC_000016.10:19078094:C:T p.(Ala159=) NC_000016.10:19078094:C:T Identity +NM_001313915.2:c.27C>T NP_001300844.1:p.Ala9= NC_000002.12:88595621:G:A p.(Ala9=) NC_000002.12:88595621:G:A p.(Ala9=) NC_000002.12:88595621:G:A Identity +NM_001164773.2:c.252C>T NP_001158245.1:p.Asn84= NC_000019.10:48799983:G:A p.(Asn84=) NC_000019.10:48799983:G:A p.(Asn84=) NC_000019.10:48799983:G:A Identity +NM_000230.3:c.378G>A NP_000221.1:p.Glu126= NC_000007.14:128254636:G:A p.(Glu126=) NC_000007.14:128254636:G:A p.(Glu126=) NC_000007.14:128254636:G:A Identity +NM_001127244.2:c.369G>A NP_001120716.1:p.Lys123= NC_000009.12:128907532:G:A p.(Lys123=) NC_000009.12:128907532:G:A p.(Lys123=) NC_000009.12:128907532:G:A Identity +NM_020338.4:c.1926C>T NP_065071.1:p.Gly642= NC_000010.11:79300848:C:T p.(Gly642=) NC_000010.11:79300848:C:T p.(Gly642=) NC_000010.11:79300848:C:T Identity +NM_001278055.2:c.11568G>A NP_001264984.1:p.Gln3856= NC_000013.11:23331866:C:T p.(Gln3856=) NC_000013.11:23331866:C:T p.(Gln3856=) NC_000013.11:23331866:C:T Identity +NM_006662.3:c.8667C>G NP_006653.2:p.Thr2889= NC_000016.10:30738706:C:G p.(Thr2889=) NC_000016.10:30738706:C:G p.(Thr2889=) NC_000016.10:30738706:C:G Identity +NM_005257.6:c.648G>A NP_005248.2:p.Ala216= NC_000018.10:22171791:G:A p.(Ala216=) NC_000018.10:22171791:G:A p.(Ala216=) NC_000018.10:22171791:G:A Identity +NM_000214.3:c.3183T>G NP_000205.1:p.Pro1061= NC_000020.11:10640798:A:C p.(Pro1061=) NC_000020.11:10640798:A:C p.(Pro1061=) NC_000020.11:10640798:A:C Identity +NM_001165966.2:c.1458C>T NP_001159438.1:p.Ser486= NC_000017.11:6471218:G:A p.(Ser486=) NC_000017.11:6471218:G:A p.(Ser486=) NC_000017.11:6471218:G:A Identity +NM_080473.5:c.358C>T NP_536721.1:p.Leu120= NC_000020.11:62475163:G:A p.(Leu120=) NC_000020.11:62475163:G:A p.(Leu120=) NC_000020.11:62475163:G:A Identity +NM_001122752.2:c.303G>A NP_001116224.1:p.Glu101= NC_000003.12:167790423:G:A p.(Glu101=) NC_000003.12:167790423:G:A p.(Glu101=) NC_000003.12:167790423:G:A Identity +NM_001015051.4:c.249_257dup NP_001015051.3:p.Ala89_Val90insAlaAlaAla NC_000006.12:45422774:GCGGCGGCTGCGGCGGC:GCGGCGGCTGCGGCGGCTGCGGCGGC p.(Ala87_Ala89dup) NC_000006.12:45422774:GCGGCGGCTGCGGCGGC:GCGGCGGCTGCGGCGGCTGCGGCGGC p.(Ala87_Ala89dup) ERR:SPDI Analogous +NM_030665.4:c.2187C>T NP_109590.3:p.Phe729= NC_000017.11:17795134:C:T p.(Phe729=) NC_000017.11:17795134:C:T p.(Phe729=) NC_000017.11:17795134:C:T Identity +NM_006012.4:c.300C>T NP_006003.1:p.Ile100= NC_000019.10:6362474:C:T p.(Ile100=) NC_000019.10:6362474:C:T p.(Ile100=) NC_000019.10:6362474:C:T Identity +NM_000416.3:c.1188G>A NP_000407.1:p.Ser396= NC_000006.12:137198312:C:T p.(Ser396=) NC_000006.12:137198312:C:T p.(Ser396=) NC_000006.12:137198312:C:T Identity +NM_015139.3:c.654A>G NP_055954.1:p.Gly218= NC_000001.11:67042310:T:C p.(Gly218=) NC_000001.11:67042310:T:C p.(Gly218=) NC_000001.11:67042310:T:C Identity +NM_173689.7:c.2373C>T NP_775960.4:p.Ser791= NC_000009.12:123371514:C:T p.(Ser791=) NC_000009.12:123371514:C:T p.(Ser791=) NC_000009.12:123371514:C:T Identity +NM_199069.2:c.105G>A NP_951032.1:p.Ser35= NC_000003.12:49022372:G:A p.(Ser35=) NC_000003.12:49022372:G:A p.(Ser35=) NC_000003.12:49022372:G:A Identity +NM_001272003.2:c.273G>C NP_001258932.1:p.Pro91= NC_000009.12:135751023:G:C p.(Pro91=) NC_000009.12:135751023:G:C p.(Pro91=) NC_000009.12:135751023:G:C Identity +NM_001029883.3:c.1401A>T NP_001025054.1:p.Pro467= NC_000002.12:29072860:T:A p.(Pro467=) NC_000002.12:29072860:T:A p.(Pro467=) NC_000002.12:29072860:T:A Identity +NM_001849.4:c.2151G>A NP_001840.3:p.Glu717= NC_000021.9:46125965:G:A p.(Glu717=) NC_000021.9:46125965:G:A p.(Glu717=) NC_000021.9:46125965:G:A Identity +NM_000390.4:c.72A>C NP_000381.1:p.Ala24= NC_000023.11:86027534:T:G p.(Ala24=) NC_000023.11:86027534:T:G p.(Ala24=) NC_000023.11:86027534:T:G Identity +NM_000222.3:c.1704T>C NP_000213.1:p.Tyr568= NC_000004.12:54727471:T:C p.(Tyr568=) NC_000004.12:54727471:T:C p.(Tyr568=) NC_000004.12:54727471:T:C Identity +NM_000260.4:c.5052C>T NP_000251.3:p.Val1684= NC_000011.10:77202307:C:T p.(Val1684=) NC_000011.10:77202307:C:T p.(Val1684=) NC_000011.10:77202307:C:T Identity +NM_001291411.2:c.4470C>G NP_001278340.2:p.Ser1490= NC_000021.9:33553700:C:G p.(Ser1490=) NC_000021.9:33553700:C:G p.(Ser1490=) NC_000021.9:33553700:C:G Identity +NM_001253866.2:c.1947T>C NP_001240795.1:p.His649= NC_000010.11:27112081:A:G p.(His649=) NC_000010.11:27112081:A:G p.(His649=) NC_000010.11:27112081:A:G Identity +NM_000313.4:c.864C>T NP_000304.2:p.Cys288= NC_000003.12:93896676:G:A p.(Cys288=) NC_000003.12:93896676:G:A p.(Cys288=) NC_000003.12:93896676:G:A Identity +NM_001142966.3:c.4962C>T NP_001136438.1:p.His1654= NC_000018.10:21515476:C:T p.(His1654=) NC_000018.10:21515476:C:T p.(His1654=) NC_000018.10:21515476:C:T Identity +NM_001243835.2:c.693C>T NP_001230764.1:p.Leu231= NC_000002.12:191064895:G:A p.(Leu231=) NC_000002.12:191064895:G:A p.(Leu231=) NC_000002.12:191064895:G:A Identity +NM_002546.4:c.912A>C NP_002537.3:p.Gly304= NC_000008.11:118924667:T:G p.(Gly304=) NC_000008.11:118924667:T:G p.(Gly304=) NC_000008.11:118924667:T:G Identity +NM_001367624.2:c.8745C>T NP_001354553.1:p.Ser2915= NC_000016.10:88436214:C:T p.(Ser2915=) NC_000016.10:88436214:C:T p.(Ser2915=) NC_000016.10:88436214:C:T Identity +NM_000944.5:c.1509C>T NP_000935.1:p.Leu503= NC_000004.12:101025921:G:A p.(Leu503=) NC_000004.12:101025921:G:A p.(Leu503=) NC_000004.12:101025921:G:A Identity +NM_001018037.2:c.5091A>G NP_001018047.1:p.Gly1697= NC_000009.12:77318485:A:G p.(Gly1697=) NC_000009.12:77318485:A:G p.(Gly1697=) NC_000009.12:77318485:A:G Identity +NM_014989.7:c.1446C>T NP_055804.2:p.Val482= NC_000006.12:72182916:C:T p.(Val482=) NC_000006.12:72182916:C:T p.(Val482=) NC_000006.12:72182916:C:T Identity +NM_002820.3:c.390C>T NP_002811.1:p.Pro130= NC_000012.12:27963481:G:A p.(Pro130=) NC_000012.12:27963481:G:A p.(Pro130=) NC_000012.12:27963481:G:A Identity +NM_014974.3:c.4248C>A NP_055789.1:p.Gly1416= NC_000010.11:283317:G:T p.(Gly1416=) NC_000010.11:283317:G:T p.(Gly1416=) NC_000010.11:283317:G:T Identity +NM_004218.4:c.132C>T NP_004209.2:p.Ile44= NC_000019.10:8399953:C:T p.(Ile44=) NC_000019.10:8399953:C:T p.(Ile44=) NC_000019.10:8399953:C:T Identity +NM_052876.4:c.1305C>T NP_443108.1:p.Arg435= NC_000019.10:13137555:C:T p.(Arg435=) NC_000019.10:13137555:C:T p.(Arg435=) NC_000019.10:13137555:C:T Identity +NM_001160372.4:c.3273C>T NP_001153844.1:p.Leu1091= NC_000008.11:139731984:G:A p.(Leu1091=) NC_000008.11:139731984:G:A p.(Leu1091=) NC_000008.11:139731984:G:A Identity +NM_012079.6:c.1449C>A NP_036211.2:p.Ala483= NC_000008.11:144316571:G:T p.(Ala483=) NC_000008.11:144316571:G:T p.(Ala483=) NC_000008.11:144316571:G:T Identity +NM_000935.3:c.879T>C NP_000926.2:p.Asp293= NC_000003.12:146091799:A:G p.(Asp293=) NC_000003.12:146091799:A:G p.(Asp293=) NC_000003.12:146091799:A:G Identity +NM_031935.3:c.12603C>T NP_114141.2:p.Asn4201= NC_000001.11:186125706:C:T p.(Asn4201=) NC_000001.11:186125706:C:T p.(Asn4201=) NC_000001.11:186125706:C:T Identity +NM_001195263.2:c.2259A>C NP_001182192.1:p.Thr753= NC_000010.11:101010629:T:G p.(Thr753=) NC_000010.11:101010629:T:G p.(Thr753=) NC_000010.11:101010629:T:G Identity +NM_001258206.2:c.2415C>T NP_001245135.1:p.Gly805= NC_000019.10:6854094:C:T p.(Gly805=) NC_000019.10:6854094:C:T p.(Gly805=) NC_000019.10:6854094:C:T Identity +NM_001003841.3:c.780G>A NP_001003841.1:p.Thr260= NC_000005.10:1213957:G:A p.(Thr260=) NC_000005.10:1213957:G:A p.(Thr260=) NC_000005.10:1213957:G:A Identity +NM_001142298.2:c.669G>A NP_001135770.1:p.Leu223= NC_000005.10:179833197:G:A p.(Leu223=) NC_000005.10:179833197:G:A p.(Leu223=) NC_000005.10:179833197:G:A Identity +NM_001378454.1:c.279C>A NP_001365383.1:p.Pro93= NC_000002.12:73386146:C:A p.(Pro93=) NC_000002.12:73386146:C:A p.(Pro93=) NC_000002.12:73386146:C:A Identity +NM_001130442.3:c.243G>A NP_001123914.1:p.Val81= NC_000011.10:533812:C:T p.(Val81=) NC_000011.10:533812:C:T p.(Val81=) NC_000011.10:533812:C:T Identity +NM_001165412.2:c.2322G>A NP_001158884.1:p.Thr774= NC_000004.12:102610671:G:A p.(Thr774=) NC_000004.12:102610671:G:A p.(Thr774=) NC_000004.12:102610671:G:A Identity +NM_212550.5:c.306C>A NP_997715.1:p.Pro102= NC_000019.10:45179601:C:A p.(Pro102=) NC_000019.10:45179601:C:A p.(Pro102=) NC_000019.10:45179601:C:A Identity +NM_001035.3:c.2409G>A NP_001026.2:p.Leu803= NC_000001.11:237503300:G:A p.(Leu803=) NC_000001.11:237503300:G:A p.(Leu803=) NC_000001.11:237503300:G:A Identity +NM_025179.4:c.3981G>A NP_079455.3:p.Pro1327= NC_000001.11:208043096:C:T p.(Pro1327=) NC_000001.11:208043096:C:T p.(Pro1327=) NC_000001.11:208043096:C:T Identity +NM_001369614.1:c.405C>T NP_001356543.1:p.Ile135= NC_000017.11:38738772:G:A p.(Ile135=) NC_000017.11:38738772:G:A p.(Ile135=) NC_000017.11:38738772:G:A Identity +NM_001440.4:c.1740G>C NP_001431.1:p.Thr580= NC_000008.11:28717798:G:C p.(Thr580=) NC_000008.11:28717798:G:C p.(Thr580=) NC_000008.11:28717798:G:C Identity +NM_001410875.1:c.1068C>T NP_001397804.1:p.Ser356= NC_000006.12:33304438:G:A p.(Ser356=) NC_000006.12:33304438:G:A p.(Ser356=) NC_000006.12:33304438:G:A Identity +NM_023010.4:c.717A>G NP_075386.1:p.Glu239= NC_000023.11:119841165:T:C p.(Glu239=) NC_000023.11:119841165:T:C p.(Glu239=) NC_000023.11:119841165:T:C Identity +NM_003482.4:c.2778G>A NP_003473.3:p.Ser926= NC_000012.12:49050904:C:T p.(Ser926=) NC_000012.12:49050904:C:T p.(Ser926=) NC_000012.12:49050904:C:T Identity +NM_001100913.3:c.300T>C NP_001094383.2:p.Tyr100= NC_000014.9:105355053:T:C p.(Tyr100=) NC_000014.9:105355053:T:C p.(Tyr100=) NC_000014.9:105355053:T:C Identity +NM_001261406.2:c.849C>T NP_001248335.1:p.Thr283= NC_000009.12:13221398:G:A p.(Thr283=) NC_000009.12:13221398:G:A p.(Thr283=) NC_000009.12:13221398:G:A Identity +NM_020750.3:c.579G>A NP_065801.1:p.Leu193= NC_000006.12:43570543:C:T p.(Leu193=) NC_000006.12:43570543:C:T p.(Leu193=) NC_000006.12:43570543:C:T Identity +NM_001080463.2:c.1185G>A NP_001073932.1:p.Ala395= NC_000011.10:103120738:G:A p.(Ala395=) NC_000011.10:103120738:G:A p.(Ala395=) NC_000011.10:103120738:G:A Identity +NM_001102406.2:c.714G>A NP_001095876.1:p.Ser238= NC_000004.12:112427583:G:A p.(Ser238=) NC_000004.12:112427583:G:A p.(Ser238=) NC_000004.12:112427583:G:A Identity +NM_001326411.2:c.414C>T NP_001313340.1:p.Pro138= NC_000022.11:31621792:G:A p.(Pro138=) NC_000022.11:31621792:G:A p.(Pro138=) NC_000022.11:31621792:G:A Identity +NM_001130847.4:c.19C>T NP_001124319.1:p.Leu7= NC_000023.11:130165637:G:A p.(Leu7=) NC_000023.11:130165637:G:A p.(Leu7=) NC_000023.11:130165637:G:A Identity +NM_001041.4:c.4773C>T NP_001032.2:p.Pro1591= NC_000003.12:164994324:G:A p.(Pro1591=) NC_000003.12:164994324:G:A p.(Pro1591=) NC_000003.12:164994324:G:A Identity +NM_015909.4:c.3706C>A NP_056993.2:p.Arg1236= NC_000002.12:15366690:G:T p.(Arg1236=) NC_000002.12:15366690:G:T p.(Arg1236=) NC_000002.12:15366690:G:T Identity +NM_001413013.1:c.2682C>T NP_001399942.1:p.Asn894= NC_000012.12:110346045:C:T p.(Asn894=) NC_000012.12:110346045:C:T p.(Asn894=) NC_000012.12:110346045:C:T Identity +NM_000327.4:c.516C>T NP_000318.2:p.His172= NC_000011.10:62613796:C:T p.(His172=) NC_000011.10:62613796:C:T p.(His172=) NC_000011.10:62613796:C:T Identity +NM_005236.3:c.2067T>C NP_005227.1:p.Arg689= NC_000016.10:13947662:T:C p.(Arg689=) NC_000016.10:13947662:T:C p.(Arg689=) NC_000016.10:13947662:T:C Identity +NM_001291285.3:c.8197T>C NP_001278214.1:p.Leu2733= NC_000004.12:125449206:T:C p.(Leu2733=) NC_000004.12:125449206:T:C p.(Leu2733=) NC_000004.12:125449206:T:C Identity +NM_001326358.2:c.1215C>T NP_001313287.1:p.Cys405= NC_000016.10:77335883:G:A p.(Cys405=) NC_000016.10:77335883:G:A p.(Cys405=) NC_000016.10:77335883:G:A Identity +NM_001291411.2:c.405A>G NP_001278340.2:p.Glu135= NC_000021.9:33549635:A:G p.(Glu135=) NC_000021.9:33549635:A:G p.(Glu135=) NC_000021.9:33549635:A:G Identity +NM_001145468.4:c.1407T>G NP_001138940.4:p.Leu469= NC_000022.11:24322386:T:G p.(Leu469=) NC_000022.11:24322386:T:G p.(Leu469=) NC_000022.11:24322386:T:G Identity +NM_001111125.3:c.750T>C NP_001104595.1:p.Asp250= NC_000023.11:53256048:A:G p.(Asp250=) NC_000023.11:53256048:A:G p.(Asp250=) NC_000023.11:53256048:A:G Identity +NM_003482.4:c.10071A>G NP_003473.3:p.Leu3357= NC_000012.12:49037284:T:C p.(Leu3357=) NC_000012.12:49037284:T:C p.(Leu3357=) NC_000012.12:49037284:T:C Identity +NM_000109.4:c.4893A>G NP_000100.3:p.Lys1631= NC_000023.11:32365127:T:C p.(Lys1631=) NC_000023.11:32365127:T:C p.(Lys1631=) NC_000023.11:32365127:T:C Identity +NM_000209.4:c.759C>T NP_000200.1:p.Pro253= NC_000013.11:27924607:C:T p.(Pro253=) NC_000013.11:27924607:C:T p.(Pro253=) NC_000013.11:27924607:C:T Identity +NM_001077525.3:c.183T>C NP_001070993.1:p.Cys61= NC_000003.12:9653643:T:C p.(Cys61=) NC_000003.12:9653643:T:C p.(Cys61=) NC_000003.12:9653643:T:C Identity +NM_004752.4:c.1488T>C NP_004743.1:p.Gly496= NC_000006.12:10874027:A:G p.(Gly496=) NC_000006.12:10874027:A:G p.(Gly496=) NC_000006.12:10874027:A:G Identity +NM_001277269.2:c.6681C>T NP_001264198.1:p.Leu2227= NC_000011.10:17629248:C:T p.(Leu2227=) NC_000011.10:17629248:C:T p.(Leu2227=) NC_000011.10:17629248:C:T Identity +NM_000520.6:c.675G>T NP_000511.2:p.Gly225= NC_000015.10:72350647:C:A p.(Gly225=) NC_000015.10:72350647:C:A p.(Gly225=) NC_000015.10:72350647:C:A Identity +NM_001130992.3:c.243G>A NP_001124464.1:p.Glu81= NC_000003.12:139539475:C:T p.(Glu81=) NC_000003.12:139539475:C:T p.(Glu81=) NC_000003.12:139539475:C:T Identity +NM_001306129.2:c.660C>T NP_001293058.2:p.Ser220= NC_000002.12:215430739:G:A p.(Ser220=) NC_000002.12:215430739:G:A p.(Ser220=) NC_000002.12:215430739:G:A Identity +NM_001204403.2:c.726C>A NP_001191332.1:p.Ile242= NC_000010.11:60261912:G:T p.(Ile242=) NC_000010.11:60261912:G:T p.(Ile242=) NC_000010.11:60261912:G:T Identity +NM_145691.4:c.597C>T NP_663729.1:p.Tyr199= NC_000017.11:18021763:G:A p.(Tyr199=) NC_000017.11:18021763:G:A p.(Tyr199=) NC_000017.11:18021763:G:A Identity +NM_000135.4:c.807A>G NP_000126.2:p.Val269= NC_000016.10:89799623:T:C p.(Val269=) NC_000016.10:89799623:T:C p.(Val269=) NC_000016.10:89799623:T:C Identity +NM_001286457.2:c.594C>T NP_001273386.2:p.Val198= NC_000016.10:8919108:G:A p.(Val198=) NC_000016.10:8919108:G:A p.(Val198=) NC_000016.10:8919108:G:A Identity +NM_015512.5:c.7584C>T NP_056327.4:p.Tyr2528= NC_000003.12:52380110:C:T p.(Tyr2528=) NC_000003.12:52380110:C:T p.(Tyr2528=) NC_000003.12:52380110:C:T Identity +NM_014804.3:c.579C>A NP_055619.2:p.Thr193= NC_000017.11:6628255:G:T p.(Thr193=) NC_000017.11:6628255:G:T p.(Thr193=) NC_000017.11:6628255:G:T Identity +NM_001136504.1:c.477C>T NP_001129976.1:p.Gly159= NC_000001.11:202602533:G:A p.(Gly159=) NC_000001.11:202602533:G:A p.(Gly159=) NC_000001.11:202602533:G:A Identity +NM_000632.4:c.1767G>C NP_000623.2:p.Gly589= NC_000016.10:31321299:G:C p.(Gly589=) NC_000016.10:31321299:G:C p.(Gly589=) NC_000016.10:31321299:G:C Identity +NM_001042494.2:c.3130C>T NP_001035959.1:p.Leu1044= NC_000015.10:34235234:G:A p.(Leu1044=) NC_000015.10:34235234:G:A p.(Leu1044=) NC_000015.10:34235234:G:A Identity +NM_001308301.1:c.627C>T NP_001295230.1:p.Ser209= NC_000016.10:46729605:G:A p.(Ser209=) NC_000016.10:46729605:G:A p.(Ser209=) NC_000016.10:46729605:G:A Identity +NM_005720.4:c.1020C>G NP_005711.1:p.Ala340= NC_000007.14:99394058:C:G p.(Ala340=) NC_000007.14:99394058:C:G p.(Ala340=) NC_000007.14:99394058:C:G Identity +NM_016653.3:c.6G>A NP_057737.2:p.Ser2= NC_000002.12:173091036:G:A p.(Ser2=) NC_000002.12:173091036:G:A p.(Ser2=) NC_000002.12:173091036:G:A Identity +NM_002439.5:c.2319C>T NP_002430.3:p.Ser773= NC_000005.10:80778719:C:T p.(Ser773=) NC_000005.10:80778719:C:T p.(Ser773=) NC_000005.10:80778719:C:T Identity +NM_001025356.3:c.144G>A NP_001020527.2:p.Pro48= NC_000012.12:45302086:G:A p.(Pro48=) NC_000012.12:45302086:G:A p.(Pro48=) NC_000012.12:45302086:G:A Identity +NM_015378.4:c.5967C>T NP_056193.2:p.Phe1989= NC_000001.11:12293637:C:T p.(Phe1989=) NC_000001.11:12293637:C:T p.(Phe1989=) NC_000001.11:12293637:C:T Identity +NM_178012.5:c.903C>T NP_821080.1:p.Ala301= NC_000006.12:3225185:G:A p.(Ala301=) NC_000006.12:3225185:G:A p.(Ala301=) NC_000006.12:3225185:G:A Identity +NM_001159291.2:c.636C>T NP_001152763.1:p.Asp212= NC_000006.12:109452550:G:A p.(Asp212=) NC_000006.12:109452550:G:A p.(Asp212=) NC_000006.12:109452550:G:A Identity +NM_001289939.2:c.1200G>A NP_001276868.1:p.Ala400= NC_000005.10:36683911:G:A p.(Ala400=) NC_000005.10:36683911:G:A p.(Ala400=) NC_000005.10:36683911:G:A Identity +NM_000275.3:c.2043C>A NP_000266.2:p.Thr681= NC_000015.10:27926162:G:T p.(Thr681=) NC_000015.10:27926162:G:T p.(Thr681=) NC_000015.10:27926162:G:T Identity +NM_001846.4:c.2298C>T NP_001837.2:p.Pro766= NC_000013.11:110473022:C:T p.(Pro766=) NC_000013.11:110473022:C:T p.(Pro766=) NC_000013.11:110473022:C:T Identity +NM_001135597.2:c.2016T>C NP_001129069.1:p.Asn672= NC_000002.12:55334804:A:G p.(Asn672=) NC_000002.12:55334804:A:G p.(Asn672=) NC_000002.12:55334804:A:G Identity +NM_001371986.1:c.5571G>C NP_001358915.1:p.Val1857= NC_000002.12:209922291:G:C p.(Val1857=) NC_000002.12:209922291:G:C p.(Val1857=) NC_000002.12:209922291:G:C Identity +NM_001243254.2:c.273C>T NP_001230183.1:p.Asp91= NC_000011.10:9206690:G:A p.(Asp91=) NC_000011.10:9206690:G:A p.(Asp91=) NC_000011.10:9206690:G:A Identity +NM_001031737.3:c.645G>A NP_001026907.2:p.Leu215= NC_000016.10:724800:C:T p.(Leu215=) NC_000016.10:724800:C:T p.(Leu215=) NC_000016.10:724800:C:T Identity +NM_031935.3:c.3870A>G NP_114141.2:p.Ala1290= NC_000001.11:185997519:A:G p.(Ala1290=) NC_000001.11:185997519:A:G p.(Ala1290=) NC_000001.11:185997519:A:G Identity +NM_001853.4:c.1917C>G NP_001844.3:p.Gly639= NC_000020.11:62840593:C:G p.(Gly639=) NC_000020.11:62840593:C:G p.(Gly639=) NC_000020.11:62840593:C:G Identity +NM_000755.5:c.855C>T NP_000746.3:p.Thr285= NC_000009.12:129100639:G:A p.(Thr285=) NC_000009.12:129100639:G:A p.(Thr285=) NC_000009.12:129100639:G:A Identity +NM_001199954.3:c.1098C>G NP_001186883.1:p.Gly366= NC_000017.11:81510719:G:C p.(Gly366=) NC_000017.11:81510719:G:C p.(Gly366=) NC_000017.11:81510719:G:C Identity +NM_001174116.3:c.9057A>G NP_001167587.1:p.Lys3019= NC_000015.10:51449040:T:C p.(Lys3019=) NC_000015.10:51449040:T:C p.(Lys3019=) NC_000015.10:51449040:T:C Identity +NM_020461.4:c.1005T>C NP_065194.3:p.Ala335= NC_000022.11:50233426:A:G p.(Ala335=) NC_000022.11:50233426:A:G p.(Ala335=) NC_000022.11:50233426:A:G Identity +NM_000287.4:c.1539C>T NP_000278.3:p.Ala513= NC_000006.12:42968438:G:A p.(Ala513=) NC_000006.12:42968438:G:A p.(Ala513=) NC_000006.12:42968438:G:A Identity +NM_001004334.4:c.5706G>A NP_001004334.3:p.Val1902= NC_000017.11:38327862:C:T p.(Val1902=) NC_000017.11:38327862:C:T p.(Val1902=) NC_000017.11:38327862:C:T Identity +NM_001007098.3:c.666G>A NP_001007099.1:p.Ser222= NC_000001.11:52978339:G:A p.(Ser222=) NC_000001.11:52978339:G:A p.(Ser222=) NC_000001.11:52978339:G:A Identity +NM_001411051.1:c.669C>T NP_001397980.1:p.Gly223= NC_000014.9:96855315:C:T p.(Gly223=) NC_000014.9:96855315:C:T p.(Gly223=) NC_000014.9:96855315:C:T Identity +NM_002473.6:c.1614C>T NP_002464.1:p.Thr538= NC_000022.11:36312162:G:A p.(Thr538=) NC_000022.11:36312162:G:A p.(Thr538=) NC_000022.11:36312162:G:A Identity +NM_001354726.2:c.258G>T NP_001341655.1:p.Leu86= NC_000003.12:14164875:C:A p.(Leu86=) NC_000003.12:14164875:C:A p.(Leu86=) NC_000003.12:14164875:C:A Identity +NM_001283009.2:c.2931C>T NP_001269938.1:p.Gly977= NC_000020.11:63693221:C:T p.(Gly977=) NC_000020.11:63693221:C:T p.(Gly977=) NC_000020.11:63693221:C:T Identity +NM_000981.4:c.33C>T NP_000972.1:p.Ala11= NC_000017.11:39201239:C:T p.(Ala11=) NC_000017.11:39201239:C:T p.(Ala11=) NC_000017.11:39201239:C:T Identity +NM_005618.4:c.615G>C NP_005609.3:p.Gly205= NC_000006.12:170288293:C:G p.(Gly205=) NC_000006.12:170288293:C:G p.(Gly205=) NC_000006.12:170288293:C:G Identity +NM_000362.5:c.309G>A NP_000353.1:p.Leu103= NC_000022.11:32857352:G:A p.(Leu103=) NC_000022.11:32857352:G:A p.(Leu103=) NC_000022.11:32857352:G:A Identity +NM_001037333.3:c.1404G>A NP_001032410.1:p.Glu468= NC_000005.10:157319808:G:A p.(Glu468=) NC_000005.10:157319808:G:A p.(Glu468=) NC_000005.10:157319808:G:A Identity +NM_144701.3:c.1284A>T NP_653302.2:p.Leu428= NC_000001.11:67258521:A:T p.(Leu428=) NC_000001.11:67258521:A:T p.(Leu428=) NC_000001.11:67258521:A:T Identity +NM_015378.4:c.3558A>G NP_056193.2:p.Arg1186= NC_000001.11:12277145:A:G p.(Arg1186=) NC_000001.11:12277145:A:G p.(Arg1186=) NC_000001.11:12277145:A:G Identity +NM_001304763.2:c.2607A>G NP_001291692.1:p.Gln869= NC_000001.11:151289512:A:G p.(Gln869=) NC_000001.11:151289512:A:G p.(Gln869=) NC_000001.11:151289512:A:G Identity +NM_001349485.2:c.63G>A NP_001336414.1:p.Glu21= NC_000008.11:125102392:G:A p.(Glu21=) NC_000008.11:125102392:G:A p.(Glu21=) NC_000008.11:125102392:G:A Identity +NM_001293306.2:c.5277C>T NP_001280235.2:p.Thr1759= NC_000003.12:38697939:G:A p.(Thr1759=) NC_000003.12:38697939:G:A p.(Thr1759=) NC_000003.12:38697939:G:A Identity +NM_001368263.1:c.135A>T NP_001355192.1:p.Gly45= NC_000003.12:45394587:A:T p.(Gly45=) NC_000003.12:45394587:A:T p.(Gly45=) NC_000003.12:45394587:A:T Identity +NM_001145357.2:c.27G>A NP_001138829.1:p.Glu9= NC_000015.10:75430348:C:T p.(Glu9=) NC_000015.10:75430348:C:T p.(Glu9=) NC_000015.10:75430348:C:T Identity +NM_001190799.2:c.213T>C NP_001177728.1:p.Asn71= NC_000004.12:127883524:T:C p.(Asn71=) NC_000004.12:127883524:T:C p.(Asn71=) NC_000004.12:127883524:T:C Identity +NM_020461.4:c.4029G>T NP_065194.3:p.Val1343= NC_000022.11:50220329:C:A p.(Val1343=) NC_000022.11:50220329:C:A p.(Val1343=) NC_000022.11:50220329:C:A Identity +NM_001114086.2:c.1050G>A NP_001107558.1:p.Lys350= NC_000006.12:45914242:C:T p.(Lys350=) NC_000006.12:45914242:C:T p.(Lys350=) NC_000006.12:45914242:C:T Identity +NM_001411087.1:c.987C>T NP_001398016.1:p.Asp329= NC_000019.10:45032537:C:T p.(Asp329=) NC_000019.10:45032537:C:T p.(Asp329=) NC_000019.10:45032537:C:T Identity +NM_000264.5:c.402A>C NP_000255.2:p.Gly134= NC_000009.12:95485866:T:G p.(Gly134=) NC_000009.12:95485866:T:G p.(Gly134=) NC_000009.12:95485866:T:G Identity +NM_001113378.2:c.345T>C NP_001106849.1:p.Ala115= NC_000015.10:89261640:T:C p.(Ala115=) NC_000015.10:89261640:T:C p.(Ala115=) NC_000015.10:89261640:T:C Identity +NM_001286577.2:c.3237C>T NP_001273506.1:p.His1079= NC_000011.10:74093922:G:A p.(His1079=) NC_000011.10:74093922:G:A p.(His1079=) NC_000011.10:74093922:G:A Identity +NM_001366385.1:c.2769C>T NP_001353314.1:p.Ile923= NC_000017.11:80207046:C:T p.(Ile923=) NC_000017.11:80207046:C:T p.(Ile923=) NC_000017.11:80207046:C:T Identity +NM_001291411.2:c.2241A>G NP_001278340.2:p.Ala747= NC_000021.9:33551471:A:G p.(Ala747=) NC_000021.9:33551471:A:G p.(Ala747=) NC_000021.9:33551471:A:G Identity +NM_015346.4:c.5883C>G NP_056161.2:p.Leu1961= NC_000014.9:67766354:G:C p.(Leu1961=) NC_000014.9:67766354:G:C p.(Leu1961=) NC_000014.9:67766354:G:C Identity +NM_001145860.2:c.258A>T NP_001139332.1:p.Gly86= NC_000008.11:98127709:A:T p.(Gly86=) NC_000008.11:98127709:A:T p.(Gly86=) NC_000008.11:98127709:A:T Identity +NM_001244580.2:c.4275A>G NP_001231509.1:p.Thr1425= NC_000007.14:98937690:A:G p.(Thr1425=) NC_000007.14:98937690:A:G p.(Thr1425=) NC_000007.14:98937690:A:G Identity +NM_020949.3:c.945C>G NP_066000.2:p.Thr315= NC_000003.12:170483483:G:C p.(Thr315=) NC_000003.12:170483483:G:C p.(Thr315=) NC_000003.12:170483483:G:C Identity +NM_001166133.2:c.1638C>T NP_001159605.1:p.Ser546= NC_000004.12:78308168:C:T p.(Ser546=) NC_000004.12:78308168:C:T p.(Ser546=) NC_000004.12:78308168:C:T Identity +NM_000718.4:c.2721C>G NP_000709.1:p.Gly907= NC_000009.12:138023463:C:G p.(Gly907=) NC_000009.12:138023463:C:G p.(Gly907=) NC_000009.12:138023463:C:G Identity +NM_001354663.2:c.458_459del NP_001341592.1:p.Leu152_Ser153insTer NC_000003.12:193637232:TCTCTCT:TCTCT p.(Ser153Ter) NC_000003.12:193637232:TCTCTCT:TCTCT p.(Ser153Ter) NC_000003.12:193637237:CT: Analogous +NM_033071.5:c.11127T>C NP_149062.2:p.Thr3709= NC_000006.12:152353343:A:G p.(Thr3709=) NC_000006.12:152353343:A:G p.(Thr3709=) NC_000006.12:152353343:A:G Identity +NM_001130698.2:c.150C>T NP_001124170.1:p.Arg50= NC_000004.12:121951530:G:A p.(Arg50=) NC_000004.12:121951530:G:A p.(Arg50=) NC_000004.12:121951530:G:A Identity +NM_000204.5:c.219A>G NP_000195.3:p.Ala73= NC_000004.12:109766662:T:C p.(Ala73=) NC_000004.12:109766662:T:C p.(Ala73=) NC_000004.12:109766662:T:C Identity +NM_005876.5:c.6069C>T NP_005867.3:p.Ala2023= NC_000002.12:219483531:C:T p.(Ala2023=) NC_000002.12:219483531:C:T p.(Ala2023=) NC_000002.12:219483531:C:T Identity +NM_001142763.2:c.3615T>C NP_001136235.1:p.Tyr1205= NC_000010.11:53866758:A:G p.(Tyr1205=) NC_000010.11:53866758:A:G p.(Tyr1205=) NC_000010.11:53866758:A:G Identity +NM_032444.4:c.3825C>T NP_115820.2:p.Ile1275= NC_000016.10:3589812:G:A p.(Ile1275=) NC_000016.10:3589812:G:A p.(Ile1275=) NC_000016.10:3589812:G:A Identity +NM_001258206.2:c.1497T>C NP_001245135.1:p.Phe499= NC_000019.10:6832188:T:C p.(Phe499=) NC_000019.10:6832188:T:C p.(Phe499=) NC_000019.10:6832188:T:C Identity +NM_003737.4:c.378C>T NP_003728.1:p.Thr126= NC_000011.10:6641235:G:A p.(Thr126=) NC_000011.10:6641235:G:A p.(Thr126=) NC_000011.10:6641235:G:A Identity +NM_000081.4:c.5199T>C NP_000072.2:p.Asp1733= NC_000001.11:235780879:A:G p.(Asp1733=) NC_000001.11:235780879:A:G p.(Asp1733=) NC_000001.11:235780879:A:G Identity +NM_001002019.3:c.510C>T NP_001002019.1:p.Ala170= NC_000012.12:131941340:C:T p.(Ala170=) NC_000012.12:131941340:C:T p.(Ala170=) NC_000012.12:131941340:C:T Identity +NM_001354663.2:c.2301C>T NP_001341592.1:p.Thr767= NC_000003.12:193666351:C:T p.(Thr767=) NC_000003.12:193666351:C:T p.(Thr767=) NC_000003.12:193666351:C:T Identity +NM_001042594.2:c.261A>T NP_001036059.1:p.Ile87= NC_000007.14:124859004:T:A p.(Ile87=) NC_000007.14:124859004:T:A p.(Ile87=) NC_000007.14:124859004:T:A Identity +NM_001098209.2:c.2196C>T NP_001091679.1:p.Asp732= NC_000003.12:41239191:C:T p.(Asp732=) NC_000003.12:41239191:C:T p.(Asp732=) NC_000003.12:41239191:C:T Identity +NM_001069.3:c.786C>A NP_001060.1:p.Arg262= NC_000006.12:3154414:G:T p.(Arg262=) NC_000006.12:3154414:G:T p.(Arg262=) NC_000006.12:3154414:G:T Identity +NM_206933.4:c.8472T>C NP_996816.3:p.Val2824= NC_000001.11:215878849:A:G p.(Val2824=) NC_000001.11:215878849:A:G p.(Val2824=) NC_000001.11:215878849:A:G Identity +NM_001081.4:c.3570A>G NP_001072.2:p.Glu1190= NC_000010.11:17045108:T:C p.(Glu1190=) NC_000010.11:17045108:T:C p.(Glu1190=) NC_000010.11:17045108:T:C Identity +NM_001145036.2:c.1182G>C NP_001138508.1:p.Ala394= NC_000001.11:230683588:G:C p.(Ala394=) NC_000001.11:230683588:G:C p.(Ala394=) NC_000001.11:230683588:G:C Identity +NM_001128602.2:c.1242G>A NP_001122074.1:p.Thr414= NC_000015.10:38507725:C:T p.(Thr414=) NC_000015.10:38507725:C:T p.(Thr414=) NC_000015.10:38507725:C:T Identity +NM_001303496.3:c.3564A>T NP_001290425.1:p.Arg1188= NC_000007.14:93132407:T:A p.(Arg1188=) NC_000007.14:93132407:T:A p.(Arg1188=) NC_000007.14:93132407:T:A Identity +NM_133259.4:c.1536G>A NP_573566.2:p.Leu512= NC_000002.12:43960586:C:T p.(Leu512=) NC_000002.12:43960586:C:T p.(Leu512=) NC_000002.12:43960586:C:T Identity +NM_001289125.3:c.1002C>T NP_001276054.1:p.Gly334= NC_000021.9:33262953:C:T p.(Gly334=) NC_000021.9:33262953:C:T p.(Gly334=) NC_000021.9:33262953:C:T Identity +NM_001127453.2:c.816G>C NP_001120925.1:p.Ala272= NC_000007.14:24710269:C:G p.(Ala272=) NC_000007.14:24710269:C:G p.(Ala272=) NC_000007.14:24710269:C:G Identity +NM_006739.4:c.1494G>A NP_006730.2:p.Thr498= NC_000022.11:35416717:G:A p.(Thr498=) NC_000022.11:35416717:G:A p.(Thr498=) NC_000022.11:35416717:G:A Identity +NM_052859.4:c.744A>G NP_443091.1:p.Lys248= NC_000003.12:53111860:T:C p.(Lys248=) NC_000003.12:53111860:T:C p.(Lys248=) NC_000003.12:53111860:T:C Identity +NM_001004334.4:c.3081C>G NP_001004334.3:p.Ala1027= NC_000017.11:38330487:G:C p.(Ala1027=) NC_000017.11:38330487:G:C p.(Ala1027=) NC_000017.11:38330487:G:C Identity +NM_001164507.2:c.22560C>T NP_001157979.2:p.Val7520= NC_000002.12:151519687:G:A p.(Val7520=) NC_000002.12:151519687:G:A p.(Val7520=) NC_000002.12:151519687:G:A Identity +NM_001384732.1:c.4752T>G NP_001371661.1:p.Leu1584= NC_000005.10:37183428:A:C p.(Leu1584=) NC_000005.10:37183428:A:C p.(Leu1584=) NC_000005.10:37183428:A:C Identity +NM_000875.5:c.4020C>T NP_000866.1:p.Phe1340= NC_000015.10:98957357:C:T p.(Phe1340=) NC_000015.10:98957357:C:T p.(Phe1340=) NC_000015.10:98957357:C:T Identity +NM_001320923.2:c.1434C>T NP_001307852.1:p.Thr478= NC_000001.11:64857679:G:A p.(Thr478=) NC_000001.11:64857679:G:A p.(Thr478=) NC_000001.11:64857679:G:A Identity +NM_020702.5:c.462C>T NP_065753.2:p.Asp154= NC_000009.12:34372481:G:A p.(Asp154=) NC_000009.12:34372481:G:A p.(Asp154=) NC_000009.12:34372481:G:A Identity +NM_001033604.2:c.525C>T NP_001028776.1:p.Leu175= NC_000007.14:33257317:C:T p.(Leu175=) NC_000007.14:33257317:C:T p.(Leu175=) NC_000007.14:33257317:C:T Identity +NM_003412.4:c.426C>A NP_003403.2:p.Leu142= NC_000003.12:147410537:C:A p.(Leu142=) NC_000003.12:147410537:C:A p.(Leu142=) NC_000003.12:147410537:C:A Identity +NM_001001563.5:c.27G>A NP_001001563.2:p.Ser9= NC_000019.10:39480879:G:A p.(Ser9=) NC_000019.10:39480879:G:A p.(Ser9=) NC_000019.10:39480879:G:A Identity +NM_000278.5:c.957C>G NP_000269.3:p.Pro319= NC_000010.11:100824684:C:G p.(Pro319=) NC_000010.11:100824684:C:G p.(Pro319=) NC_000010.11:100824684:C:G Identity +NM_001320424.1:c.396G>A NP_001307353.1:p.Arg132= NC_000014.9:104743128:G:A p.(Arg132=) NC_000014.9:104743128:G:A p.(Arg132=) NC_000014.9:104743128:G:A Identity +NM_001318391.2:c.1632G>A NP_001305320.1:p.Thr544= NC_000016.10:69167121:G:A p.(Thr544=) NC_000016.10:69167121:G:A p.(Thr544=) NC_000016.10:69167121:G:A Identity +NM_003906.5:c.4416G>A NP_003897.2:p.Glu1472= NC_000021.9:46246760:C:T p.(Glu1472=) NC_000021.9:46246760:C:T p.(Glu1472=) NC_000021.9:46246760:C:T Identity +NM_000836.4:c.393C>T NP_000827.2:p.Asp131= NC_000019.10:48398784:C:T p.(Asp131=) NC_000019.10:48398784:C:T p.(Asp131=) NC_000019.10:48398784:C:T Identity +NM_002238.4:c.1860G>T NP_002229.1:p.Val620= NC_000001.11:210775518:C:A p.(Val620=) NC_000001.11:210775518:C:A p.(Val620=) NC_000001.11:210775518:C:A Identity +NM_000843.4:c.69G>A NP_000834.2:p.Gln23= NC_000005.10:178994875:C:T p.(Gln23=) NC_000005.10:178994875:C:T p.(Gln23=) NC_000005.10:178994875:C:T Identity +NM_002775.5:c.540C>T NP_002766.1:p.Ala180= NC_000010.11:122488968:C:T p.(Ala180=) NC_000010.11:122488968:C:T p.(Ala180=) NC_000010.11:122488968:C:T Identity +NM_000335.5:c.5367C>T NP_000326.2:p.Asp1789= NC_000003.12:38551001:G:A p.(Asp1789=) NC_000003.12:38551001:G:A p.(Asp1789=) NC_000003.12:38551001:G:A Identity +NM_001123226.2:c.1551C>T NP_001116698.1:p.Arg517= NC_000006.12:73482209:C:T p.(Arg517=) NC_000006.12:73482209:C:T p.(Arg517=) NC_000006.12:73482209:C:T Identity +NM_001365819.1:c.5109A>C NP_001352748.1:p.Ala1703= NC_000022.11:50448411:T:G p.(Ala1703=) NC_000022.11:50448411:T:G p.(Ala1703=) NC_000022.11:50448411:T:G Identity +NM_001131015.2:c.2448C>A NP_001124487.1:p.Thr816= NC_000009.12:128166277:G:T p.(Thr816=) NC_000009.12:128166277:G:T p.(Thr816=) NC_000009.12:128166277:G:T Identity +NM_001321080.2:c.183C>T NP_001308009.1:p.Phe61= NC_000006.12:104850944:G:A p.(Phe61=) NC_000006.12:104850944:G:A p.(Phe61=) NC_000006.12:104850944:G:A Identity +NM_001306193.2:c.1446T>C NP_001293122.1:p.Phe482= NC_000023.11:132078525:A:G p.(Phe482=) NC_000023.11:132078525:A:G p.(Phe482=) NC_000023.11:132078525:A:G Identity +NM_001171.6:c.4080C>T NP_001162.5:p.Leu1360= NC_000016.10:16154755:G:A p.(Leu1360=) NC_000016.10:16154755:G:A p.(Leu1360=) NC_000016.10:16154755:G:A Identity +NM_001164098.2:c.2430A>G NP_001157570.1:p.Thr810= NC_000005.10:83520735:A:G p.(Thr810=) NC_000005.10:83520735:A:G p.(Thr810=) NC_000005.10:83520735:A:G Identity +NM_022124.6:c.5043C>T NP_071407.4:p.Asn1681= NC_000010.11:71777876:C:T p.(Asn1681=) NC_000010.11:71777876:C:T p.(Asn1681=) NC_000010.11:71777876:C:T Identity +NM_000092.5:c.2472T>C NP_000083.3:p.Pro824= NC_000002.12:227057511:A:G p.(Pro824=) NC_000002.12:227057511:A:G p.(Pro824=) NC_000002.12:227057511:A:G Identity +NM_001177316.2:c.198G>A NP_001170787.2:p.Leu66= NC_000009.12:137232596:G:A p.(Leu66=) NC_000009.12:137232596:G:A p.(Leu66=) NC_000009.12:137232596:G:A Identity +NM_024649.5:c.492G>A NP_078925.3:p.Glu164= NC_000011.10:66515704:G:A p.(Glu164=) NC_000011.10:66515704:G:A p.(Glu164=) NC_000011.10:66515704:G:A Identity +NM_001261427.3:c.2115T>C NP_001248356.1:p.Asp705= NC_000002.12:11805111:T:C p.(Asp705=) NC_000002.12:11805111:T:C p.(Asp705=) NC_000002.12:11805111:T:C Identity +NM_001366574.1:c.2280A>G NP_001353503.1:p.Ser760= NC_000012.12:88195363:A:G p.(Ser760=) NC_000012.12:88195363:A:G p.(Ser760=) NC_000012.12:88195363:A:G Identity +NM_006208.3:c.999C>T NP_006199.2:p.Phe333= NC_000006.12:131861677:C:T p.(Phe333=) NC_000006.12:131861677:C:T p.(Phe333=) NC_000006.12:131861677:C:T Identity +NM_001278599.2:c.1320C>T NP_001265528.1:p.Ile440= NC_000019.10:41256538:C:T p.(Ile440=) NC_000019.10:41256538:C:T p.(Ile440=) NC_000019.10:41256538:C:T Identity +NM_000350.3:c.4740A>G NP_000341.2:p.Leu1580= NC_000001.11:94021878:T:C p.(Leu1580=) NC_000001.11:94021878:T:C p.(Leu1580=) NC_000001.11:94021878:T:C Identity +NM_001384732.1:c.7560T>C NP_001371661.1:p.His2520= NC_000005.10:37164300:A:G p.(His2520=) NC_000005.10:37164300:A:G p.(His2520=) NC_000005.10:37164300:A:G Identity +NM_001166049.2:c.726A>G NP_001159521.1:p.Ala242= NC_000019.10:45413721:T:C p.(Ala242=) NC_000019.10:45413721:T:C p.(Ala242=) NC_000019.10:45413721:T:C Identity +NM_001368263.1:c.420C>A NP_001355192.1:p.Val140= NC_000003.12:45417537:C:A p.(Val140=) NC_000003.12:45417537:C:A p.(Val140=) NC_000003.12:45417537:C:A Identity +NM_001130103.2:c.381T>G NP_001123575.1:p.Thr127= NC_000010.11:69872191:T:G p.(Thr127=) NC_000010.11:69872191:T:G p.(Thr127=) NC_000010.11:69872191:T:G Identity +NM_000350.3:c.5529G>A NP_000341.2:p.Arg1843= NC_000001.11:94011316:C:T p.(Arg1843=) NC_000001.11:94011316:C:T p.(Arg1843=) NC_000001.11:94011316:C:T Identity +NM_000361.3:c.30G>C NP_000352.1:p.Leu10= NC_000020.11:23049474:C:G p.(Leu10=) NC_000020.11:23049474:C:G p.(Leu10=) NC_000020.11:23049474:C:G Identity +NM_002291.3:c.2295G>A NP_002282.2:p.Leu765= NC_000007.14:107960463:C:T p.(Leu765=) NC_000007.14:107960463:C:T p.(Leu765=) NC_000007.14:107960463:C:T Identity +NM_001008389.3:c.126G>A NP_001008390.1:p.Thr42= NC_000016.10:20349174:C:T p.(Thr42=) NC_000016.10:20349174:C:T p.(Thr42=) NC_000016.10:20349174:C:T Identity +NM_001291411.2:c.5847T>C NP_001278340.2:p.Phe1949= NC_000021.9:33555077:T:C p.(Phe1949=) NC_000021.9:33555077:T:C p.(Phe1949=) NC_000021.9:33555077:T:C Identity +NM_000522.5:c.270G>A NP_000513.2:p.Leu90= NC_000007.14:27199807:C:T p.(Leu90=) NC_000007.14:27199807:C:T p.(Leu90=) NC_000007.14:27199807:C:T Identity +NM_001024956.3:c.360C>T NP_001020127.1:p.Val120= NC_000011.10:121306401:C:T p.(Val120=) NC_000011.10:121306401:C:T p.(Val120=) NC_000011.10:121306401:C:T Identity +NM_006766.5:c.4425T>C NP_006757.2:p.His1475= NC_000008.11:41933794:A:G p.(His1475=) NC_000008.11:41933794:A:G p.(His1475=) NC_000008.11:41933794:A:G Identity +NM_018713.3:c.369G>A NP_061183.2:p.Gly123= NC_000001.11:219928071:C:T p.(Gly123=) NC_000001.11:219928071:C:T p.(Gly123=) NC_000001.11:219928071:C:T Identity +NM_001199107.2:c.831G>A NP_001186036.1:p.Ala277= NC_000016.10:2496978:G:A p.(Ala277=) NC_000016.10:2496978:G:A p.(Ala277=) NC_000016.10:2496978:G:A Identity +NM_001283009.2:c.1974C>T NP_001269938.1:p.Leu658= NC_000020.11:63689596:C:T p.(Leu658=) NC_000020.11:63689596:C:T p.(Leu658=) NC_000020.11:63689596:C:T Identity +NM_001349608.2:c.1560C>T NP_001336537.1:p.Ser520= NC_000001.11:7664196:C:T p.(Ser520=) NC_000001.11:7664196:C:T p.(Ser520=) NC_000001.11:7664196:C:T Identity +NM_014141.6:c.723A>G NP_054860.1:p.Lys241= NC_000007.14:147108318:A:G p.(Lys241=) NC_000007.14:147108318:A:G p.(Lys241=) NC_000007.14:147108318:A:G Identity +NM_004459.7:c.6675G>A NP_004450.3:p.Gly2225= NC_000017.11:67940475:G:A p.(Gly2225=) NC_000017.11:67940475:G:A p.(Gly2225=) NC_000017.11:67940475:G:A Identity +NM_001001957.2:c.648C>G NP_001001957.2:p.Leu216= NC_000001.11:247896233:C:G p.(Leu216=) NC_000001.11:247896233:C:G p.(Leu216=) NC_000001.11:247896233:C:G Identity +NM_000813.3:c.828A>G NP_000804.1:p.Ala276= NC_000005.10:161334755:T:C p.(Ala276=) NC_000005.10:161334755:T:C p.(Ala276=) NC_000005.10:161334755:T:C Identity +NM_004204.5:c.234C>T NP_004195.2:p.Gly78= NC_000016.10:574307:C:T p.(Gly78=) NC_000016.10:574307:C:T p.(Gly78=) NC_000016.10:574307:C:T Identity +NM_001007097.3:c.138C>T NP_001007098.1:p.Ser46= NC_000009.12:84670885:C:T p.(Ser46=) NC_000009.12:84670885:C:T p.(Ser46=) NC_000009.12:84670885:C:T Identity +NM_000090.4:c.414T>C NP_000081.2:p.Pro138= NC_000002.12:188985744:T:C p.(Pro138=) NC_000002.12:188985744:T:C p.(Pro138=) NC_000002.12:188985744:T:C Identity +NM_001081640.2:c.4623G>A NP_001075109.1:p.Ala1541= NC_000008.11:47886096:C:T p.(Ala1541=) NC_000008.11:47886096:C:T p.(Ala1541=) NC_000008.11:47886096:C:T Identity +NM_033026.6:c.14991A>G NP_149015.2:p.Gly4997= NC_000007.14:82801533:T:C p.(Gly4997=) NC_000007.14:82801533:T:C p.(Gly4997=) NC_000007.14:82801533:T:C Identity +NM_001256850.1:c.54276C>A NP_001243779.1:p.Thr18092= NC_000002.12:178592919:G:T p.(Thr18092=) NC_000002.12:178592919:G:T p.(Thr18092=) NC_000002.12:178592919:G:T Identity +NM_007227.3:c.960C>T NP_009158.3:p.Asn320= NC_000002.12:105242817:C:T p.(Asn320=) NC_000002.12:105242817:C:T p.(Asn320=) NC_000002.12:105242817:C:T Identity +NM_001164507.2:c.13401G>A NP_001157979.2:p.Lys4467= NC_000002.12:151601975:C:T p.(Lys4467=) NC_000002.12:151601975:C:T p.(Lys4467=) NC_000002.12:151601975:C:T Identity +NM_001242.5:c.411C>T NP_001233.2:p.Ser137= NC_000012.12:6450314:C:T p.(Ser137=) NC_000012.12:6450314:C:T p.(Ser137=) NC_000012.12:6450314:C:T Identity +NM_030582.4:c.321T>C NP_085059.2:p.Ile107= NC_000021.9:45455850:T:C p.(Ile107=) NC_000021.9:45455850:T:C p.(Ile107=) NC_000021.9:45455850:T:C Identity +NM_001167614.2:c.2088A>T NP_001161086.1:p.Pro696= NC_000012.12:65240202:A:T p.(Pro696=) NC_000012.12:65240202:A:T p.(Pro696=) NC_000012.12:65240202:A:T Identity +NM_001135040.3:c.231G>A NP_001128512.1:p.Lys77= NC_000002.12:74378047:C:T p.(Lys77=) NC_000002.12:74378047:C:T p.(Lys77=) NC_000002.12:74378047:C:T Identity +NM_001142864.4:c.1839C>T NP_001136336.2:p.Thr613= NC_000016.10:88734883:G:A p.(Thr613=) NC_000016.10:88734883:G:A p.(Thr613=) NC_000016.10:88734883:G:A Identity +NM_001034116.2:c.204A>G NP_001029288.1:p.Gln68= NC_000002.12:27369420:T:C p.(Gln68=) NC_000002.12:27369420:T:C p.(Gln68=) NC_000002.12:27369420:T:C Identity +NM_001193300.2:c.540C>G NP_001180229.1:p.Pro180= NC_000001.11:156158795:C:G p.(Pro180=) NC_000001.11:156158795:C:G p.(Pro180=) NC_000001.11:156158795:C:G Identity +NM_001024218.2:c.1056G>C NP_001019389.1:p.Gly352= NC_000014.9:67088992:G:C p.(Gly352=) NC_000014.9:67088992:G:C p.(Gly352=) NC_000014.9:67088992:G:C Identity +NM_003801.4:c.393C>T NP_003792.1:p.Gly131= NC_000008.11:144083739:C:T p.(Gly131=) NC_000008.11:144083739:C:T p.(Gly131=) NC_000008.11:144083739:C:T Identity +NM_001098.3:c.780C>A NP_001089.1:p.Gly260= NC_000022.11:41515861:C:A p.(Gly260=) NC_000022.11:41515861:C:A p.(Gly260=) NC_000022.11:41515861:C:A Identity +NM_033402.5:c.20TGG[3] NP_208325.3:p.Val8_Ala9insVal NC_000008.11:85107312:GGTGGTGG:GGTGGTGGTGG p.(Val8dup) NC_000008.11:85107314:T:TGGTGGTGG ERR:Parse ERR:Parse Analogous +NM_000495.5:c.1845G>C NP_000486.1:p.Gly615= NC_000023.11:108598766:G:C p.(Gly615=) NC_000023.11:108598766:G:C p.(Gly615=) NC_000023.11:108598766:G:C Identity +NM_001164507.2:c.4137C>A NP_001157979.2:p.Thr1379= NC_000002.12:151672530:G:T p.(Thr1379=) NC_000002.12:151672530:G:T p.(Thr1379=) NC_000002.12:151672530:G:T Identity +NM_001178010.2:c.24A>G NP_001171481.1:p.Lys8= NC_000022.11:19479991:A:G p.(Lys8=) NC_000022.11:19479991:A:G p.(Lys8=) NC_000022.11:19479991:A:G Identity +NM_020549.5:c.30G>T NP_065574.4:p.Gly10= NC_000010.11:49614218:G:T p.(Gly10=) NC_000010.11:49614218:G:T p.(Gly10=) NC_000010.11:49614218:G:T Identity +NM_004995.4:c.762G>A NP_004986.1:p.Ser254= NC_000014.9:22843329:G:A p.(Ser254=) NC_000014.9:22843329:G:A p.(Ser254=) NC_000014.9:22843329:G:A Identity +NM_001017995.3:c.573C>T NP_001017995.1:p.Phe191= NC_000005.10:172358866:G:A p.(Phe191=) NC_000005.10:172358866:G:A p.(Phe191=) NC_000005.10:172358866:G:A Identity +NM_001362884.2:c.885C>T NP_001349813.1:p.Tyr295= NC_000008.11:20253045:G:A p.(Tyr295=) NC_000008.11:20253045:G:A p.(Tyr295=) NC_000008.11:20253045:G:A Identity +NM_057176.3:c.787C>T NP_476517.1:p.Leu263= NC_000001.11:55008451:C:T p.(Leu263=) NC_000001.11:55008451:C:T p.(Leu263=) NC_000001.11:55008451:C:T Identity +NM_000109.4:c.4683C>T NP_000100.3:p.Cys1561= NC_000023.11:32380647:G:A p.(Cys1561=) NC_000023.11:32380647:G:A p.(Cys1561=) NC_000023.11:32380647:G:A Identity +NM_000548.5:c.1534C>T NP_000539.2:p.Leu512= NC_000016.10:2064361:C:T p.(Leu512=) NC_000016.10:2064361:C:T p.(Leu512=) NC_000016.10:2064361:C:T Identity +NM_000243.3:c.1308A>G NP_000234.1:p.Ser436= NC_000016.10:3248956:T:C p.(Ser436=) NC_000016.10:3248956:T:C p.(Ser436=) NC_000016.10:3248956:T:C Identity +NM_000902.5:c.498G>A NP_000893.2:p.Gly166= NC_000003.12:155116721:G:A p.(Gly166=) NC_000003.12:155116721:G:A p.(Gly166=) NC_000003.12:155116721:G:A Identity +NM_021939.4:c.603T>C NP_068758.3:p.Tyr201= NC_000017.11:41818402:T:C p.(Tyr201=) NC_000017.11:41818402:T:C p.(Tyr201=) NC_000017.11:41818402:T:C Identity +NM_001378418.1:c.5505C>T NP_001365347.1:p.Gly1835= NC_000022.11:42209800:G:A p.(Gly1835=) NC_000022.11:42209800:G:A p.(Gly1835=) NC_000022.11:42209800:G:A Identity +NM_001174116.3:c.1878C>T NP_001167587.1:p.Val626= NC_000015.10:51536601:G:A p.(Val626=) NC_000015.10:51536601:G:A p.(Val626=) NC_000015.10:51536601:G:A Identity +NM_000283.4:c.387G>A NP_000274.3:p.Glu129= NC_000004.12:626012:G:A p.(Glu129=) NC_000004.12:626012:G:A p.(Glu129=) NC_000004.12:626012:G:A Identity +NM_000274.4:c.1080C>G NP_000265.1:p.Leu360= NC_000010.11:124400918:G:C p.(Leu360=) NC_000010.11:124400918:G:C p.(Leu360=) NC_000010.11:124400918:G:C Identity +NM_005458.8:c.528C>G NP_005449.5:p.Val176= NC_000009.12:98541974:G:C p.(Val176=) NC_000009.12:98541974:G:C p.(Val176=) NC_000009.12:98541974:G:C Identity +NM_000190.4:c.270G>A NP_000181.2:p.Val90= NC_000011.10:119089685:G:A p.(Val90=) NC_000011.10:119089685:G:A p.(Val90=) NC_000011.10:119089685:G:A Identity +NM_001351694.2:c.252C>T NP_001338623.1:p.Pro84= NC_000019.10:39415133:C:T p.(Pro84=) NC_000019.10:39415133:C:T p.(Pro84=) NC_000019.10:39415133:C:T Identity +NM_001365999.1:c.462G>A NP_001352928.1:p.Gln154= NC_000001.11:43404513:G:A p.(Gln154=) NC_000001.11:43404513:G:A p.(Gln154=) NC_000001.11:43404513:G:A Identity +NM_001185039.2:c.1323C>T NP_001171968.1:p.Ser441= NC_000017.11:75949758:G:A p.(Ser441=) NC_000017.11:75949758:G:A p.(Ser441=) NC_000017.11:75949758:G:A Identity +NM_001193300.2:c.1326G>A NP_001180229.1:p.Ser442= NC_000001.11:156174831:G:A p.(Ser442=) NC_000001.11:156174831:G:A p.(Ser442=) NC_000001.11:156174831:G:A Identity +NM_001122769.3:c.930G>A NP_001116241.1:p.Glu310= NC_000006.12:79492575:C:T p.(Glu310=) NC_000006.12:79492575:C:T p.(Glu310=) NC_000006.12:79492575:C:T Identity +NM_001346897.2:c.105T>C NP_001333826.1:p.Ser35= NC_000007.14:55142301:T:C p.(Ser35=) NC_000007.14:55142301:T:C p.(Ser35=) NC_000007.14:55142301:T:C Identity +NM_021076.4:c.789G>T NP_066554.2:p.Leu263= NC_000022.11:29481050:G:T p.(Leu263=) NC_000022.11:29481050:G:T p.(Leu263=) NC_000022.11:29481050:G:T Identity +NM_001174116.3:c.2923A>C NP_001167587.1:p.Arg975= NC_000015.10:51502874:T:G p.(Arg975=) NC_000015.10:51502874:T:G p.(Arg975=) NC_000015.10:51502874:T:G Identity +NM_001081.4:c.8535C>A NP_001072.2:p.Ile2845= NC_000010.11:16899058:G:T p.(Ile2845=) NC_000010.11:16899058:G:T p.(Ile2845=) NC_000010.11:16899058:G:T Identity +NM_004525.3:c.8976T>C NP_004516.2:p.Thr2992= NC_000002.12:169191887:A:G p.(Thr2992=) NC_000002.12:169191887:A:G p.(Thr2992=) NC_000002.12:169191887:A:G Identity +NM_001411101.1:c.1710G>A NP_001398030.1:p.Leu570= NC_000017.11:82903434:G:A p.(Leu570=) NC_000017.11:82903434:G:A p.(Leu570=) NC_000017.11:82903434:G:A Identity +NM_000253.4:c.579A>G NP_000244.2:p.Ser193= NC_000004.12:99591311:A:G p.(Ser193=) NC_000004.12:99591311:A:G p.(Ser193=) NC_000004.12:99591311:A:G Identity +NM_000301.5:c.1539C>T NP_000292.1:p.His513= NC_000006.12:160731844:C:T p.(His513=) NC_000006.12:160731844:C:T p.(His513=) NC_000006.12:160731844:C:T Identity +NM_001042473.4:c.111A>G NP_001035938.1:p.Lys37= NC_000010.11:27235177:T:C p.(Lys37=) NC_000010.11:27235177:T:C p.(Lys37=) NC_000010.11:27235177:T:C Identity +NM_001201543.2:c.1905A>G NP_001188472.1:p.Leu635= NC_000002.12:61827204:T:C p.(Leu635=) NC_000002.12:61827204:T:C p.(Leu635=) NC_000002.12:61827204:T:C Identity +NM_000081.4:c.4371C>T NP_000072.2:p.His1457= NC_000001.11:235791870:G:A p.(His1457=) NC_000001.11:235791870:G:A p.(His1457=) NC_000001.11:235791870:G:A Identity +NM_001378454.1:c.4404A>G NP_001365383.1:p.Thr1468= NC_000002.12:73450930:A:G p.(Thr1468=) NC_000002.12:73450930:A:G p.(Thr1468=) NC_000002.12:73450930:A:G Identity +LRG_465t1:c.3750T>C LRG_465p1:p.Tyr1250= NC_000010.11:49470209:A:G ERR:Data provider error: ValueError: Transcript LRG_465t1 not found ERR:Data provider error: ValueError: Transcript LRG_465t1 not found ERR:AlignmentMapper(tx_ac=LRG_465t1, alt_ac=LRG_465t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_465t1, alt_ac=LRG_465t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_465t1 not found +NM_000109.4:c.220C>A NP_000100.3:p.Arg74= NC_000023.11:32844802:G:T p.(Arg74=) NC_000023.11:32844802:G:T p.(Arg74=) NC_000023.11:32844802:G:T Identity +NM_001012339.3:c.897T>A NP_001012339.2:p.Gly299= NC_000005.10:34941096:T:A p.(Gly299=) NC_000005.10:34941096:T:A p.(Gly299=) NC_000005.10:34941096:T:A Identity +NM_001042544.1:c.1623A>G NP_001036009.1:p.Glu541= NC_000019.10:40608598:A:G p.(Glu541=) NC_000019.10:40608598:A:G p.(Glu541=) NC_000019.10:40608598:A:G Identity +NM_001376929.1:c.1209C>T NP_001363858.1:p.His403= NC_000001.11:219915508:G:A p.(His403=) NC_000001.11:219915508:G:A p.(His403=) NC_000001.11:219915508:G:A Identity +NM_004304.5:c.270G>C NP_004295.2:p.Ser90= NC_000002.12:29920389:C:G p.(Ser90=) NC_000002.12:29920389:C:G p.(Ser90=) NC_000002.12:29920389:C:G Identity +NM_001159291.2:c.300T>C NP_001152763.1:p.Ala100= NC_000006.12:109453803:A:G p.(Ala100=) NC_000006.12:109453803:A:G p.(Ala100=) NC_000006.12:109453803:A:G Identity +NM_001289905.2:c.819T>G NP_001276834.1:p.Leu273= NC_000022.11:17103549:T:G p.(Leu273=) NC_000022.11:17103549:T:G p.(Leu273=) NC_000022.11:17103549:T:G Identity +NM_138348.6:c.963C>T NP_612357.4:p.Thr321= NC_000005.10:14692951:C:T p.(Thr321=) NC_000005.10:14692951:C:T p.(Thr321=) NC_000005.10:14692951:C:T Identity +NM_000701.8:c.2133C>T NP_000692.2:p.Ile711= NC_000001.11:116398628:C:T p.(Ile711=) NC_000001.11:116398628:C:T p.(Ile711=) NC_000001.11:116398628:C:T Identity +NM_000109.4:c.3057A>G NP_000100.3:p.Gly1019= NC_000023.11:32468578:T:C p.(Gly1019=) NC_000023.11:32468578:T:C p.(Gly1019=) NC_000023.11:32468578:T:C Identity +NM_001846.4:c.3474G>C NP_001837.2:p.Gly1158= NC_000013.11:110492088:G:C p.(Gly1158=) NC_000013.11:110492088:G:C p.(Gly1158=) NC_000013.11:110492088:G:C Identity +NM_001127214.4:c.885A>G NP_001120686.1:p.Thr295= NC_000016.10:89112153:A:G p.(Thr295=) NC_000016.10:89112153:A:G p.(Thr295=) NC_000016.10:89112153:A:G Identity +NM_001282489.3:c.936C>T NP_001269418.1:p.Leu312= NC_000017.11:74919590:G:A p.(Leu312=) NC_000017.11:74919590:G:A p.(Leu312=) NC_000017.11:74919590:G:A Identity +NM_001354726.2:c.2085G>A NP_001341655.1:p.Glu695= NC_000003.12:14146099:C:T p.(Glu695=) NC_000003.12:14146099:C:T p.(Glu695=) NC_000003.12:14146099:C:T Identity +NM_001348732.2:c.3912C>T NP_001335661.1:p.Pro1304= NC_000002.12:8733527:G:A p.(Pro1304=) NC_000002.12:8733527:G:A p.(Pro1304=) NC_000002.12:8733527:G:A Identity +NM_000068.4:c.2871G>A NP_000059.3:p.Gly957= NC_000019.10:13298773:C:T p.(Gly957=) NC_000019.10:13298773:C:T p.(Gly957=) NC_000019.10:13298773:C:T Identity +NM_014249.4:c.672G>C NP_055064.1:p.Ser224= NC_000015.10:71812435:G:C p.(Ser224=) NC_000015.10:71812435:G:C p.(Ser224=) NC_000015.10:71812435:G:C Identity +NM_000066.4:c.1008C>G NP_000057.3:p.Leu336= NC_000001.11:56945917:G:C p.(Leu336=) NC_000001.11:56945917:G:C p.(Leu336=) NC_000001.11:56945917:G:C Identity +NM_001270950.2:c.891G>A NP_001257879.1:p.Ala297= NC_000018.10:62384910:G:A p.(Ala297=) NC_000018.10:62384910:G:A p.(Ala297=) NC_000018.10:62384910:G:A Identity +NM_001367830.1:c.4989T>C NP_001354759.1:p.Ala1663= NC_000019.10:11208970:A:G p.(Ala1663=) NC_000019.10:11208970:A:G p.(Ala1663=) NC_000019.10:11208970:A:G Identity +NM_001031847.3:c.2076G>A NP_001027017.1:p.Gln692= NC_000011.10:68760290:C:T p.(Gln692=) NC_000011.10:68760290:C:T p.(Gln692=) NC_000011.10:68760290:C:T Identity +NM_001242366.3:c.349C>T NP_001229295.1:p.Leu117= NC_000017.11:28405347:G:A p.(Leu117=) NC_000017.11:28405347:G:A p.(Leu117=) NC_000017.11:28405347:G:A Identity +NM_003482.4:c.3888C>T NP_003473.3:p.Ala1296= NC_000012.12:49049699:G:A p.(Ala1296=) NC_000012.12:49049699:G:A p.(Ala1296=) NC_000012.12:49049699:G:A Identity +NM_001018073.3:c.231G>A NP_001018083.2:p.Leu77= NC_000014.9:24097092:G:A p.(Leu77=) NC_000014.9:24097092:G:A p.(Leu77=) NC_000014.9:24097092:G:A Identity +NM_016247.4:c.372T>C NP_057331.2:p.Phe124= NC_000003.12:101304274:A:G p.(Phe124=) NC_000003.12:101304274:A:G p.(Phe124=) NC_000003.12:101304274:A:G Identity +NM_032802.4:c.1188A>G NP_116191.2:p.Ser396= NC_000015.10:50725281:T:C p.(Ser396=) NC_000015.10:50725281:T:C p.(Ser396=) NC_000015.10:50725281:T:C Identity +NM_007129.5:c.102G>A NP_009060.2:p.Glu34= NC_000013.11:99982165:G:A p.(Glu34=) NC_000013.11:99982165:G:A p.(Glu34=) NC_000013.11:99982165:G:A Identity +NM_001346813.1:c.1311C>T NP_001333742.1:p.Tyr437= NC_000006.12:156779239:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001282660.2:c.2418C>T NP_001269589.1:p.Gly806= NC_000022.11:40411767:G:A p.(Gly806=) NC_000022.11:40411767:G:A p.(Gly806=) NC_000022.11:40411767:G:A Identity +NM_001013838.3:c.3246C>T NP_001013860.1:p.Ala1082= NC_000016.10:67654355:C:T p.(Ala1082=) NC_000016.10:67654355:C:T p.(Ala1082=) NC_000016.10:67654355:C:T Identity +NM_004360.5:c.1179C>A NP_004351.1:p.Ile393= NC_000016.10:68813353:C:A p.(Ile393=) NC_000016.10:68813353:C:A p.(Ile393=) NC_000016.10:68813353:C:A Identity +NM_031935.3:c.12246C>T NP_114141.2:p.Ser4082= NC_000001.11:186122966:C:T p.(Ser4082=) NC_000001.11:186122966:C:T p.(Ser4082=) NC_000001.11:186122966:C:T Identity +NM_002838.5:c.3261A>G NP_002829.3:p.Glu1087= NC_000001.11:198752301:A:G p.(Glu1087=) NC_000001.11:198752301:A:G p.(Glu1087=) NC_000001.11:198752301:A:G Identity +NM_000785.4:c.364C>A NP_000776.1:p.Arg122= NC_000012.12:57766028:G:T p.(Arg122=) NC_000012.12:57766028:G:T p.(Arg122=) NC_000012.12:57766028:G:T Identity +NM_001207047.3:c.1683G>A NP_001193976.1:p.Ser561= NC_000020.11:3572889:G:A p.(Ser561=) NC_000020.11:3572889:G:A p.(Ser561=) NC_000020.11:3572889:G:A Identity +NM_007215.4:c.318_319delinsAA NP_009146.2:p.Leu106_Arg107= NC_000017.11:64496649:GC:TT p.(Leu106_Arg107=) NC_000017.11:64496649:GC:TT p.(Leu106=) NC_000017.11:64496649:GC:TT Identity +NM_000177.5:c.1596C>G NP_000168.1:p.Pro532= NC_000009.12:121326537:C:G p.(Pro532=) NC_000009.12:121326537:C:G p.(Pro532=) NC_000009.12:121326537:C:G Identity +NM_001103.4:c.2115C>T NP_001094.1:p.Ala705= NC_000001.11:236755158:C:T p.(Ala705=) NC_000001.11:236755158:C:T p.(Ala705=) NC_000001.11:236755158:C:T Identity +NM_001376929.1:c.942T>C NP_001363858.1:p.Asn314= NC_000001.11:219915775:A:G p.(Asn314=) NC_000001.11:219915775:A:G p.(Asn314=) NC_000001.11:219915775:A:G Identity +NM_000177.5:c.2007C>G NP_000168.1:p.Leu669= NC_000009.12:121328981:C:G p.(Leu669=) NC_000009.12:121328981:C:G p.(Leu669=) NC_000009.12:121328981:C:G Identity +NM_001126131.2:c.119_133del NP_001119603.1:p.Arg40_Gln44del NC_000015.10:89333621:GCTGCTGCCGCCGCCGCTGC:GCTGC p.(Arg40_Gln44del) NC_000015.10:89333621:GCTGCTGCCGCCGCCGCTGC:GCTGC p.(Arg40_Gln44del) NC_000015.10:89333621:GCTGCTGCCGCCGCC: Identity +NM_000426.4:c.4201C>T NP_000417.3:p.Leu1401= NC_000006.12:129328301:C:T p.(Leu1401=) NC_000006.12:129328301:C:T p.(Leu1401=) NC_000006.12:129328301:C:T Identity +NM_001346754.2:c.768T>C NP_001333683.1:p.Phe256= NC_000017.11:36537868:T:C p.(Phe256=) NC_000017.11:36537868:T:C p.(Phe256=) NC_000017.11:36537868:T:C Identity +NM_006088.6:c.345G>T NP_006079.1:p.Ser115= NC_000009.12:137242562:G:T p.(Ser115=) NC_000009.12:137242562:G:T p.(Ser115=) NC_000009.12:137242562:G:T Identity +NM_001146.5:c.216A>G NP_001137.2:p.Pro72= NC_000008.11:107497342:T:C p.(Pro72=) NC_000008.11:107497342:T:C p.(Pro72=) NC_000008.11:107497342:T:C Identity +NM_001145357.2:c.1995T>C NP_001138829.1:p.His665= NC_000015.10:75396355:A:G p.(His665=) NC_000015.10:75396355:A:G p.(His665=) NC_000015.10:75396355:A:G Identity +NM_145262.4:c.1314G>A NP_660305.2:p.Pro438= NC_000003.12:52292867:G:A p.(Pro438=) NC_000003.12:52292867:G:A p.(Pro438=) NC_000003.12:52292867:G:A Identity +NM_001410858.1:c.3747C>T NP_001397787.1:p.Ser1249= NC_000018.10:45913774:G:A p.(Ser1249=) NC_000018.10:45913774:G:A p.(Ser1249=) NC_000018.10:45913774:G:A Identity +NM_001291285.3:c.4635C>T NP_001278214.1:p.Ser1545= NC_000004.12:125321045:C:T p.(Ser1545=) NC_000004.12:125321045:C:T p.(Ser1545=) NC_000004.12:125321045:C:T Identity +NM_001271999.2:c.5694A>T NP_001258928.1:p.Ala1898= NC_000001.11:62475940:T:A p.(Ala1898=) NC_000001.11:62475940:T:A p.(Ala1898=) NC_000001.11:62475940:T:A Identity +NM_031935.3:c.576A>G NP_114141.2:p.Thr192= NC_000001.11:185865817:A:G p.(Thr192=) NC_000001.11:185865817:A:G p.(Thr192=) NC_000001.11:185865817:A:G Identity +NM_001042424.3:c.2952C>T NP_001035889.1:p.Ser984= NC_000004.12:1958002:C:T p.(Ser984=) NC_000004.12:1958002:C:T p.(Ser984=) NC_000004.12:1958002:C:T Identity +NM_033131.4:c.1011C>A NP_149122.1:p.Val337= NC_000001.11:228059416:C:A p.(Val337=) NC_000001.11:228059416:C:A p.(Val337=) NC_000001.11:228059416:C:A Identity +NM_001171.6:c.2796C>T NP_001162.5:p.Ala932= NC_000016.10:16169844:G:A p.(Ala932=) NC_000016.10:16169844:G:A p.(Ala932=) NC_000016.10:16169844:G:A Identity +NM_000718.4:c.981C>T NP_000709.1:p.Ala327= NC_000009.12:137952287:C:T p.(Ala327=) NC_000009.12:137952287:C:T p.(Ala327=) NC_000009.12:137952287:C:T Identity +NM_001166133.2:c.570C>T NP_001159605.1:p.Phe190= NC_000004.12:78255341:C:T p.(Phe190=) NC_000004.12:78255341:C:T p.(Phe190=) NC_000004.12:78255341:C:T Identity +NM_000390.4:c.1284C>T NP_000381.1:p.Ile428= NC_000023.11:85901148:G:A p.(Ile428=) NC_000023.11:85901148:G:A p.(Ile428=) NC_000023.11:85901148:G:A Identity +NM_001384378.1:c.327C>T NP_001371307.1:p.Thr109= NC_000019.10:17766800:C:T p.(Thr109=) NC_000019.10:17766800:C:T p.(Thr109=) NC_000019.10:17766800:C:T Identity +NM_005458.8:c.282G>A NP_005449.5:p.Leu94= NC_000009.12:98708455:C:T p.(Leu94=) NC_000009.12:98708455:C:T p.(Leu94=) NC_000009.12:98708455:C:T Identity +NM_022788.5:c.114T>C NP_073625.1:p.Val38= NC_000003.12:151338731:A:G p.(Val38=) NC_000003.12:151338731:A:G p.(Val38=) NC_000003.12:151338731:A:G Identity +NM_025216.3:c.90G>C NP_079492.2:p.Leu30= NC_000002.12:218881084:G:C p.(Leu30=) NC_000002.12:218881084:G:C p.(Leu30=) NC_000002.12:218881084:G:C Identity +NM_001017420.3:c.1326A>G NP_001017420.1:p.Pro442= NC_000008.11:27792024:A:G p.(Pro442=) NC_000008.11:27792024:A:G p.(Pro442=) NC_000008.11:27792024:A:G Identity +NM_001077493.1:c.1845C>T NP_001070961.1:p.Cys615= NC_000010.11:102400700:C:T ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001039802.2:c.222A>G NP_001034891.1:p.Gln74= NC_000001.11:22086481:A:G p.(Gln74=) NC_000001.11:22086481:A:G p.(Gln74=) NC_000001.11:22086481:A:G Identity +NM_001313915.2:c.393C>G NP_001300844.1:p.Thr131= NC_000002.12:88590973:G:C p.(Thr131=) NC_000002.12:88590973:G:C p.(Thr131=) NC_000002.12:88590973:G:C Identity +NM_018847.4:c.156G>C NP_061335.1:p.Val52= NC_000009.12:21334703:C:G p.(Val52=) NC_000009.12:21334703:C:G p.(Val52=) NC_000009.12:21334703:C:G Identity +NM_001282352.2:c.474T>C NP_001269281.1:p.Ile158= NC_000019.10:8589472:A:G p.(Ile158=) NC_000019.10:8589472:A:G p.(Ile158=) NC_000019.10:8589472:A:G Identity +NM_007055.4:c.3960C>T NP_008986.2:p.Ser1320= NC_000010.11:77980204:G:A p.(Ser1320=) NC_000010.11:77980204:G:A p.(Ser1320=) NC_000010.11:77980204:G:A Identity +NM_001256850.1:c.38988C>T NP_001243779.1:p.Gly12996= NC_000002.12:178631136:G:A p.(Gly12996=) NC_000002.12:178631136:G:A p.(Gly12996=) NC_000002.12:178631136:G:A Identity +NM_001371271.1:c.4728C>T NP_001358200.1:p.Ala1576= NC_000002.12:120990641:C:T p.(Ala1576=) NC_000002.12:120990641:C:T p.(Ala1576=) NC_000002.12:120990641:C:T Identity +NM_001184720.2:c.273G>A NP_001171649.1:p.Ser91= NC_000003.12:148996430:G:A p.(Ser91=) NC_000003.12:148996430:G:A p.(Ser91=) NC_000003.12:148996430:G:A Identity +NM_005245.4:c.10773T>C NP_005236.2:p.Ser3591= NC_000004.12:186603752:A:G p.(Ser3591=) NC_000004.12:186603752:A:G p.(Ser3591=) NC_000004.12:186603752:A:G Identity +NM_001261406.2:c.1845G>C NP_001248335.1:p.Val615= NC_000009.12:13192253:C:G p.(Val615=) NC_000009.12:13192253:C:G p.(Val615=) NC_000009.12:13192253:C:G Identity +NM_004373.4:c.219C>T NP_004364.2:p.Ala73= NC_000012.12:120438493:C:T p.(Ala73=) NC_000012.12:120438493:C:T p.(Ala73=) NC_000012.12:120438493:C:T Identity +NM_001365308.1:c.1329G>A NP_001352237.1:p.Ser443= NC_000007.14:34079106:G:A p.(Ser443=) NC_000007.14:34079106:G:A p.(Ser443=) NC_000007.14:34079106:G:A Identity +NM_001256850.1:c.8529C>G NP_001243779.1:p.Val2843= NC_000002.12:178770171:G:C p.(Val2843=) NC_000002.12:178770171:G:C p.(Val2843=) NC_000002.12:178770171:G:C Identity +NM_001031710.3:c.324C>T NP_001026880.2:p.Ser108= NC_000007.14:23125053:C:T p.(Ser108=) NC_000007.14:23125053:C:T p.(Ser108=) NC_000007.14:23125053:C:T Identity +NM_000182.5:c.72T>C NP_000173.2:p.Tyr24= NC_000002.12:26239138:A:G p.(Tyr24=) NC_000002.12:26239138:A:G p.(Tyr24=) NC_000002.12:26239138:A:G Identity +NM_017633.3:c.1044A>G NP_060103.2:p.Glu348= NC_000006.12:81749979:T:C p.(Glu348=) NC_000006.12:81749979:T:C p.(Glu348=) NC_000006.12:81749979:T:C Identity +NM_001410890.1:c.426C>G NP_001397819.1:p.Leu142= NC_000001.11:161791478:C:G p.(Leu142=) NC_000001.11:161791478:C:G p.(Leu142=) NC_000001.11:161791478:C:G Identity +NM_001025205.2:c.405G>A NP_001020376.1:p.Gln135= NC_000003.12:184180232:G:A p.(Gln135=) NC_000003.12:184180232:G:A p.(Gln135=) NC_000003.12:184180232:G:A Identity +NM_002241.5:c.516C>A NP_002232.2:p.Pro172= NC_000001.11:160042016:G:T p.(Pro172=) NC_000001.11:160042016:G:T p.(Pro172=) NC_000001.11:160042016:G:T Identity +NM_001043351.2:c.642A>G NP_001036816.1:p.Glu214= NC_000001.11:154170421:T:C p.(Glu214=) NC_000001.11:154170421:T:C p.(Glu214=) NC_000001.11:154170421:T:C Identity +NM_024306.5:c.813C>G NP_077282.3:p.Val271= NC_000016.10:74716572:G:C p.(Val271=) NC_000016.10:74716572:G:C p.(Val271=) NC_000016.10:74716572:G:C Identity +NM_006662.3:c.4864C>T NP_006653.2:p.Leu1622= NC_000016.10:30724287:C:T p.(Leu1622=) NC_000016.10:30724287:C:T p.(Leu1622=) NC_000016.10:30724287:C:T Identity +NM_001199642.1:c.1602G>A NP_001186571.1:p.Ser534= NC_000003.12:123303126:C:T p.(Ser534=) NC_000003.12:123303126:C:T p.(Ser534=) NC_000003.12:123303126:C:T Identity +NM_001079812.3:c.1881T>C NP_001073280.1:p.Gly627= NC_000005.10:141573941:A:G p.(Gly627=) NC_000005.10:141573941:A:G p.(Gly627=) NC_000005.10:141573941:A:G Identity +NM_001256789.3:c.5577C>G NP_001243718.1:p.Gly1859= NC_000023.11:49205708:G:C p.(Gly1859=) NC_000023.11:49205708:G:C p.(Gly1859=) NC_000023.11:49205708:G:C Identity +NM_001127244.2:c.726G>A NP_001120716.1:p.Ala242= NC_000009.12:128907889:G:A p.(Ala242=) NC_000009.12:128907889:G:A p.(Ala242=) NC_000009.12:128907889:G:A Identity +NM_000283.4:c.2370C>T NP_000274.3:p.His790= NC_000004.12:667872:C:T p.(His790=) NC_000004.12:667872:C:T p.(His790=) NC_000004.12:667872:C:T Identity +NM_000327.4:c.870A>G NP_000318.2:p.Gln290= NC_000011.10:62614652:A:G p.(Gln290=) NC_000011.10:62614652:A:G p.(Gln290=) NC_000011.10:62614652:A:G Identity +NM_014003.4:c.588A>G NP_054722.2:p.Glu196= NC_000016.10:72097752:A:G p.(Glu196=) NC_000016.10:72097752:A:G p.(Glu196=) NC_000016.10:72097752:A:G Identity +NM_001318381.2:c.2073A>G NP_001305310.1:p.Lys691= NC_000009.12:100292617:A:G p.(Lys691=) NC_000009.12:100292617:A:G p.(Lys691=) NC_000009.12:100292617:A:G Identity +NM_022463.5:c.276C>A NP_071908.2:p.Ser92= NC_000017.11:979402:G:T p.(Ser92=) NC_000017.11:979402:G:T p.(Ser92=) NC_000017.11:979402:G:T Identity +NM_001414.4:c.321A>G NP_001405.1:p.Ser107= NC_000012.12:123630216:T:C p.(Ser107=) NC_000012.12:123630216:T:C p.(Ser107=) NC_000012.12:123630216:T:C Identity +NM_001163812.2:c.1491A>G NP_001157284.1:p.Val497= NC_000010.11:100990441:A:G p.(Val497=) NC_000010.11:100990441:A:G p.(Val497=) NC_000010.11:100990441:A:G Identity +NM_000246.4:c.3330C>T NP_000237.2:p.Pro1110= NC_000016.10:10923239:C:T p.(Pro1110=) NC_000016.10:10923239:C:T p.(Pro1110=) NC_000016.10:10923239:C:T Identity +NM_001318511.2:c.156C>T NP_001305440.1:p.Phe52= NC_000018.10:79680102:C:T p.(Phe52=) NC_000018.10:79680102:C:T p.(Phe52=) NC_000018.10:79680102:C:T Identity +NM_001244808.3:c.1998C>T NP_001231737.1:p.Tyr666= NC_000003.12:70959279:G:A p.(Tyr666=) NC_000003.12:70959279:G:A p.(Tyr666=) NC_000003.12:70959279:G:A Identity +NM_001256442.2:c.546G>A NP_001243371.1:p.Gly182= NC_000016.10:29813599:G:A p.(Gly182=) NC_000016.10:29813599:G:A p.(Gly182=) NC_000016.10:29813599:G:A Identity +NM_000158.4:c.810A>G NP_000149.4:p.Gln270= NC_000003.12:81642962:T:C p.(Gln270=) NC_000003.12:81642962:T:C p.(Gln270=) NC_000003.12:81642962:T:C Identity +NM_000482.4:c.969A>G NP_000473.2:p.Glu323= NC_000011.10:116821088:T:C p.(Glu323=) NC_000011.10:116821088:T:C p.(Glu323=) NC_000011.10:116821088:T:C Identity +NM_001149.4:c.2127T>C NP_001140.2:p.Asp709= NC_000010.11:60063141:A:G p.(Asp709=) NC_000010.11:60063141:A:G p.(Asp709=) NC_000010.11:60063141:A:G Identity +NM_000376.3:c.597G>A NP_000367.1:p.Ser199= NC_000012.12:47855787:C:T p.(Ser199=) NC_000012.12:47855787:C:T p.(Ser199=) NC_000012.12:47855787:C:T Identity +NM_001385907.1:c.1922del NP_001372836.1:p.Ala640_Leu641insTer NC_000009.12:32473060:AAA:AA p.(Leu641Ter) NC_000009.12:32473060:AAA:AA p.(Leu641Ter) NC_000009.12:32473060:A: Analogous +NM_000920.4:c.3450C>G NP_000911.2:p.Thr1150= NC_000011.10:66848985:G:C p.(Thr1150=) NC_000011.10:66848985:G:C p.(Thr1150=) NC_000011.10:66848985:G:C Identity +NM_022072.5:c.138T>G NP_071355.1:p.Ser46= NC_000003.12:94084121:T:G p.(Ser46=) NC_000003.12:94084121:T:G p.(Ser46=) NC_000003.12:94084121:T:G Identity +NM_001077182.3:c.420G>A NP_001070650.1:p.Gln140= NC_000017.11:81528950:G:A p.(Gln140=) NC_000017.11:81528950:G:A p.(Gln140=) NC_000017.11:81528950:G:A Identity +NM_020987.5:c.9432C>T NP_066267.2:p.Pro3144= NC_000010.11:60071448:G:A p.(Pro3144=) NC_000010.11:60071448:G:A p.(Pro3144=) NC_000010.11:60071448:G:A Identity +NM_003068.5:c.660A>G NP_003059.1:p.Arg220= NC_000008.11:48918953:T:C p.(Arg220=) NC_000008.11:48918953:T:C p.(Arg220=) NC_000008.11:48918953:T:C Identity +NM_001100913.3:c.1431G>A NP_001094383.2:p.Val477= NC_000014.9:105382493:G:A p.(Val477=) NC_000014.9:105382493:G:A p.(Val477=) NC_000014.9:105382493:G:A Identity +NM_001302946.2:c.987C>T NP_001289875.2:p.Phe329= NC_000003.12:3147693:C:T p.(Phe329=) NC_000003.12:3147693:C:T p.(Phe329=) NC_000003.12:3147693:C:T Identity +NM_001378477.3:c.618C>T NP_001365406.2:p.Leu206= NC_000023.11:41474085:C:T p.(Leu206=) NC_000023.11:41474085:C:T p.(Leu206=) NC_000023.11:41474085:C:T Identity +NM_001256850.1:c.16020G>A NP_001243779.1:p.Leu5340= NC_000002.12:178731903:C:T p.(Leu5340=) NC_000002.12:178731903:C:T p.(Leu5340=) NC_000002.12:178731903:C:T Identity +NM_006766.5:c.3270G>T NP_006757.2:p.Ser1090= NC_000008.11:41937337:C:A p.(Ser1090=) NC_000008.11:41937337:C:A p.(Ser1090=) NC_000008.11:41937337:C:A Identity +NM_001018037.2:c.3198T>C NP_001018047.1:p.Ser1066= NC_000009.12:77283625:T:C p.(Ser1066=) NC_000009.12:77283625:T:C p.(Ser1066=) NC_000009.12:77283625:T:C Identity +NM_001367904.1:c.1299C>T NP_001354833.1:p.Gly433= NC_000011.10:117518676:G:A p.(Gly433=) NC_000011.10:117518676:G:A p.(Gly433=) NC_000011.10:117518676:G:A Identity +NM_000142.5:c.1860C>T NP_000133.1:p.Ala620= NC_000004.12:1806073:C:T p.(Ala620=) NC_000004.12:1806073:C:T p.(Ala620=) NC_000004.12:1806073:C:T Identity +NM_001291285.3:c.9612T>C NP_001278214.1:p.Thr3204= NC_000004.12:125450621:T:C p.(Thr3204=) NC_000004.12:125450621:T:C p.(Thr3204=) NC_000004.12:125450621:T:C Identity +NM_000432.4:c.18A>G NP_000423.2:p.Ala6= NC_000012.12:110919178:T:C p.(Ala6=) NC_000012.12:110919178:T:C p.(Ala6=) NC_000012.12:110919178:T:C Identity +NM_000426.4:c.5766T>G NP_000417.3:p.Thr1922= NC_000006.12:129403859:T:G p.(Thr1922=) NC_000006.12:129403859:T:G p.(Thr1922=) NC_000006.12:129403859:T:G Identity +NM_014003.4:c.2154C>G NP_054722.2:p.Thr718= NC_000016.10:72105028:C:G p.(Thr718=) NC_000016.10:72105028:C:G p.(Thr718=) NC_000016.10:72105028:C:G Identity +NM_000361.3:c.93C>A NP_000352.1:p.Val31= NC_000020.11:23049411:G:T p.(Val31=) NC_000020.11:23049411:G:T p.(Val31=) NC_000020.11:23049411:G:T Identity +NM_001909.5:c.717G>C NP_001900.1:p.Ala239= NC_000011.10:1755015:C:G p.(Ala239=) NC_000011.10:1755015:C:G p.(Ala239=) NC_000011.10:1755015:C:G Identity +NM_015202.5:c.4347G>A NP_056017.4:p.Glu1449= NC_000016.10:27774981:G:A p.(Glu1449=) NC_000016.10:27774981:G:A p.(Glu1449=) NC_000016.10:27774981:G:A Identity +NM_003632.3:c.1188G>T NP_003623.1:p.Gly396= NC_000017.11:42687862:G:T p.(Gly396=) NC_000017.11:42687862:G:T p.(Gly396=) NC_000017.11:42687862:G:T Identity +NM_014974.3:c.2439G>T NP_055789.1:p.Ala813= NC_000010.11:364411:C:A p.(Ala813=) NC_000010.11:364411:C:A p.(Ala813=) NC_000010.11:364411:C:A Identity +NM_000199.5:c.18C>T NP_000190.1:p.Pro6= NC_000017.11:80220295:G:A p.(Pro6=) NC_000017.11:80220295:G:A p.(Pro6=) NC_000017.11:80220295:G:A Identity +NM_018136.5:c.7110A>C NP_060606.3:p.Ala2370= NC_000001.11:197102140:T:G p.(Ala2370=) NC_000001.11:197102140:T:G p.(Ala2370=) NC_000001.11:197102140:T:G Identity +NM_001135639.2:c.375G>A NP_001129111.1:p.Pro125= NC_000016.10:57962979:C:T p.(Pro125=) NC_000016.10:57962979:C:T p.(Pro125=) NC_000016.10:57962979:C:T Identity +NM_003036.4:c.2076C>T NP_003027.1:p.Arg692= NC_000001.11:2306653:C:T p.(Arg692=) NC_000001.11:2306653:C:T p.(Arg692=) NC_000001.11:2306653:C:T Identity +NM_016932.5:c.750G>C NP_058628.3:p.Pro250= NC_000002.12:45006295:C:G p.(Pro250=) NC_000002.12:45006295:C:G p.(Pro250=) NC_000002.12:45006295:C:G Identity +NM_032229.3:c.1251T>C NP_115605.2:p.Tyr417= NC_000013.11:85795257:A:G p.(Tyr417=) NC_000013.11:85795257:A:G p.(Tyr417=) NC_000013.11:85795257:A:G Identity +NM_016151.4:c.2370C>T NP_057235.2:p.Gly790= NC_000016.10:29986641:C:T p.(Gly790=) NC_000016.10:29986641:C:T p.(Gly790=) NC_000016.10:29986641:C:T Identity +NM_001291285.3:c.6888A>G NP_001278214.1:p.Ser2296= NC_000004.12:125416491:A:G p.(Ser2296=) NC_000004.12:125416491:A:G p.(Ser2296=) NC_000004.12:125416491:A:G Identity +NM_001145472.3:c.1668C>G NP_001138944.1:p.Pro556= NC_000018.10:46522184:G:C p.(Pro556=) NC_000018.10:46522184:G:C p.(Pro556=) NC_000018.10:46522184:G:C Identity +NM_001291285.3:c.7245G>T NP_001278214.1:p.Ser2415= NC_000004.12:125446337:G:T p.(Ser2415=) NC_000004.12:125446337:G:T p.(Ser2415=) NC_000004.12:125446337:G:T Identity +NM_000528.4:c.1632A>G NP_000519.2:p.Thr544= NC_000019.10:12656582:T:C p.(Thr544=) NC_000019.10:12656582:T:C p.(Thr544=) NC_000019.10:12656582:T:C Identity +NM_001199138.2:c.2085G>A NP_001186067.1:p.Lys695= NC_000002.12:32249778:C:T p.(Lys695=) NC_000002.12:32249778:C:T p.(Lys695=) NC_000002.12:32249778:C:T Identity +NM_001130955.2:c.102C>T NP_001124427.2:p.Asn34= NC_000019.10:7440203:C:T p.(Asn34=) NC_000019.10:7440203:C:T p.(Asn34=) NC_000019.10:7440203:C:T Identity +NM_005876.5:c.5412A>G NP_005867.3:p.Thr1804= NC_000002.12:219481345:A:G p.(Thr1804=) NC_000002.12:219481345:A:G p.(Thr1804=) NC_000002.12:219481345:A:G Identity +NM_001220.5:c.807C>T NP_001211.3:p.His269= NC_000007.14:44242229:G:A p.(His269=) NC_000007.14:44242229:G:A p.(His269=) NC_000007.14:44242229:G:A Identity +NM_001065.4:c.843C>A NP_001056.1:p.Pro281= NC_000012.12:6329991:G:T p.(Pro281=) NC_000012.12:6329991:G:T p.(Pro281=) NC_000012.12:6329991:G:T Identity +NM_014974.3:c.654G>T NP_055789.1:p.Ser218= NC_000010.11:419149:C:A p.(Ser218=) NC_000010.11:419149:C:A p.(Ser218=) NC_000010.11:419149:C:A Identity +NM_000237.3:c.576A>C NP_000228.1:p.Ala192= NC_000008.11:19954153:A:C p.(Ala192=) NC_000008.11:19954153:A:C p.(Ala192=) NC_000008.11:19954153:A:C Identity +NM_001277764.2:c.255G>A NP_001264693.1:p.Val85= NC_000015.10:90232278:C:T p.(Val85=) NC_000015.10:90232278:C:T p.(Val85=) NC_000015.10:90232278:C:T Identity +NM_001164665.2:c.5370C>G NP_001158137.1:p.Ala1790= NC_000007.14:138844398:G:C p.(Ala1790=) NC_000007.14:138844398:G:C p.(Ala1790=) NC_000007.14:138844398:G:C Identity +NM_001379200.1:c.42G>T NP_001366129.1:p.Ser14= NC_000022.11:19760884:G:T p.(Ser14=) NC_000022.11:19760884:G:T p.(Ser14=) NC_000022.11:19760884:G:T Identity +NM_001408.3:c.4996C>T NP_001399.1:p.Leu1666= NC_000001.11:109263771:C:T p.(Leu1666=) NC_000001.11:109263771:C:T p.(Leu1666=) NC_000001.11:109263771:C:T Identity +NM_006929.5:c.1605C>G NP_008860.4:p.Thr535= NC_000006.12:31963690:C:G p.(Thr535=) NC_000006.12:31963690:C:G p.(Thr535=) NC_000006.12:31963690:C:G Identity +NM_014974.3:c.1605C>G NP_055789.1:p.Thr535= NC_000010.11:387801:G:C p.(Thr535=) NC_000010.11:387801:G:C p.(Thr535=) NC_000010.11:387801:G:C Identity +NM_001085049.3:c.270C>T NP_001078518.1:p.Ile90= NC_000003.12:138397399:C:T p.(Ile90=) NC_000003.12:138397399:C:T p.(Ile90=) NC_000003.12:138397399:C:T Identity +NM_000823.4:c.174C>G NP_000814.2:p.Thr58= NC_000007.14:30969075:C:G p.(Thr58=) NC_000007.14:30969075:C:G p.(Thr58=) NC_000007.14:30969075:C:G Identity +NM_004268.5:c.1773G>A NP_004259.3:p.Lys591= NC_000011.10:93811880:G:A p.(Lys591=) NC_000011.10:93811880:G:A p.(Lys591=) NC_000011.10:93811880:G:A Identity +NM_001330384.2:c.1053G>A NP_001317313.1:p.Ser351= NC_000019.10:15264562:C:T p.(Ser351=) NC_000019.10:15264562:C:T p.(Ser351=) NC_000019.10:15264562:C:T Identity +NM_000227.6:c.1332T>C NP_000218.3:p.Asn444= NC_000018.10:23901280:T:C p.(Asn444=) NC_000018.10:23901280:T:C p.(Asn444=) NC_000018.10:23901280:T:C Identity +NM_001321851.1:c.4009T>C NP_001308780.1:p.Leu1337= NC_000014.9:92003963:A:G p.(Leu1337=) NC_000014.9:92003963:A:G p.(Leu1337=) NC_000014.9:92003963:A:G Identity +NM_004621.6:c.2751A>G NP_004612.2:p.Gly917= NC_000011.10:101452999:T:C p.(Gly917=) NC_000011.10:101452999:T:C p.(Gly917=) NC_000011.10:101452999:T:C Identity +NM_001171184.2:c.1356C>T NP_001164655.1:p.His452= NC_000023.11:101250471:C:T p.(His452=) NC_000023.11:101250471:C:T p.(His452=) NC_000023.11:101250471:C:T Identity +NM_001127505.3:c.1099T>C NP_001120977.1:p.Leu367= NC_000008.11:18057604:A:G p.(Leu367=) NC_000008.11:18057604:A:G p.(Leu367=) NC_000008.11:18057604:A:G Identity +NM_001014797.3:c.1260T>C NP_001014797.1:p.Ser420= NC_000010.11:77090473:A:G p.(Ser420=) NC_000010.11:77090473:A:G p.(Ser420=) NC_000010.11:77090473:A:G Identity +NM_000601.6:c.579T>C NP_000592.3:p.Asn193= NC_000007.14:81752165:A:G p.(Asn193=) NC_000007.14:81752165:A:G p.(Asn193=) NC_000007.14:81752165:A:G Identity +NM_018713.3:c.534C>A NP_061183.2:p.Arg178= NC_000001.11:219927906:G:T p.(Arg178=) NC_000001.11:219927906:G:T p.(Arg178=) NC_000001.11:219927906:G:T Identity +NM_001035.3:c.7539C>T NP_001026.2:p.Ala2513= NC_000001.11:237649902:C:T p.(Ala2513=) NC_000001.11:237649902:C:T p.(Ala2513=) NC_000001.11:237649902:C:T Identity +NM_001006658.3:c.2607C>T NP_001006659.1:p.Asp869= NC_000001.11:207475106:C:T p.(Asp869=) NC_000001.11:207475106:C:T p.(Asp869=) NC_000001.11:207475106:C:T Identity +NM_006393.3:c.1473G>A NP_006384.1:p.Glu491= NC_000010.11:20831559:C:T p.(Glu491=) NC_000010.11:20831559:C:T p.(Glu491=) NC_000010.11:20831559:C:T Identity +NM_005911.6:c.876T>C NP_005902.1:p.Arg292= NC_000002.12:85542671:T:C p.(Arg292=) NC_000002.12:85542671:T:C p.(Arg292=) NC_000002.12:85542671:T:C Identity +NM_001386500.1:c.3090T>C NP_001373429.1:p.Tyr1030= NC_000001.11:11216174:A:G p.(Tyr1030=) NC_000001.11:11216174:A:G p.(Tyr1030=) NC_000001.11:11216174:A:G Identity +NM_012213.3:c.69C>G NP_036345.2:p.Pro23= NC_000016.10:83899212:C:G p.(Pro23=) NC_000016.10:83899212:C:G p.(Pro23=) NC_000016.10:83899212:C:G Identity +NM_001166110.2:c.12G>A NP_001159582.1:p.Leu4= NC_000004.12:168877902:G:A p.(Leu4=) NC_000004.12:168877902:G:A p.(Leu4=) NC_000004.12:168877902:G:A Identity +NM_001318360.2:c.1245C>T NP_001305289.1:p.His415= NC_000009.12:108906358:G:A p.(His415=) NC_000009.12:108906358:G:A p.(His415=) NC_000009.12:108906358:G:A Identity +NM_001372.4:c.3904C>T NP_001363.2:p.Leu1302= NC_000017.11:11689725:C:T p.(Leu1302=) NC_000017.11:11689725:C:T p.(Leu1302=) NC_000017.11:11689725:C:T Identity +NM_001143979.2:c.366C>T NP_001137451.1:p.Asp122= NC_000016.10:15677928:C:T p.(Asp122=) NC_000016.10:15677928:C:T p.(Asp122=) NC_000016.10:15677928:C:T Identity +NM_000720.4:c.5391T>C NP_000711.1:p.Leu1797= NC_000003.12:53801347:T:C p.(Leu1797=) NC_000003.12:53801347:T:C p.(Leu1797=) NC_000003.12:53801347:T:C Identity +NM_001128844.3:c.2725C>T NP_001122316.1:p.Leu909= NC_000019.10:11021832:C:T p.(Leu909=) NC_000019.10:11021832:C:T p.(Leu909=) NC_000019.10:11021832:C:T Identity +NM_003482.4:c.8379A>T NP_003473.3:p.Gly2793= NC_000012.12:49038976:T:A p.(Gly2793=) NC_000012.12:49038976:T:A p.(Gly2793=) NC_000012.12:49038976:T:A Identity +NM_000109.4:c.6966T>C NP_000100.3:p.Leu2322= NC_000023.11:31875295:A:G p.(Leu2322=) NC_000023.11:31875295:A:G p.(Leu2322=) NC_000023.11:31875295:A:G Identity +NM_001353984.2:c.3814C>T NP_001340913.1:p.Leu1272= NC_000023.11:53194362:G:A p.(Leu1272=) NC_000023.11:53194362:G:A p.(Leu1272=) NC_000023.11:53194362:G:A Identity +NM_000068.4:c.2916T>G NP_000059.3:p.Gly972= NC_000019.10:13298728:A:C p.(Gly972=) NC_000019.10:13298728:A:C p.(Gly972=) NC_000019.10:13298728:A:C Identity +NM_052844.4:c.1125C>A NP_443076.2:p.Pro375= NC_000009.12:128634777:G:T p.(Pro375=) NC_000009.12:128634777:G:T p.(Pro375=) NC_000009.12:128634777:G:T Identity +NM_001142800.2:c.4935G>A NP_001136272.1:p.Leu1645= NC_000006.12:64590931:C:T p.(Leu1645=) NC_000006.12:64590931:C:T p.(Leu1645=) NC_000006.12:64590931:C:T Identity +NM_015560.3:c.240T>C NP_056375.2:p.Tyr80= NC_000003.12:193614929:T:C p.(Tyr80=) NC_000003.12:193614929:T:C p.(Tyr80=) NC_000003.12:193614929:T:C Identity +NM_000293.3:c.42G>A NP_000284.1:p.Lys14= NC_000016.10:47461391:G:A p.(Lys14=) NC_000016.10:47461391:G:A p.(Lys14=) NC_000016.10:47461391:G:A Identity +NM_001135597.2:c.576T>C NP_001129069.1:p.Asn192= NC_000002.12:55362358:A:G p.(Asn192=) NC_000002.12:55362358:A:G p.(Asn192=) NC_000002.12:55362358:A:G Identity +NM_001040436.3:c.827_832del NP_001035526.1:p.Ser276_Thr277del NC_000012.12:32754032:TTGTACTTGTA:TTGTA p.(Ser276_Thr277del) NC_000012.12:32754032:TTGTACTTGTA:TTGTA p.(Ser276_Thr277del) NC_000012.12:32754032:TTGTAC: Identity +NM_001257976.2:c.543G>A NP_001244905.1:p.Gln181= NC_000009.12:128179360:C:T p.(Gln181=) NC_000009.12:128179360:C:T p.(Gln181=) NC_000009.12:128179360:C:T Identity +NM_001318520.2:c.1536C>T NP_001305449.1:p.Asp512= NC_000018.10:70088018:G:A p.(Asp512=) NC_000018.10:70088018:G:A p.(Asp512=) NC_000018.10:70088018:G:A Identity +NM_003906.5:c.3145C>T NP_003897.2:p.Leu1049= NC_000021.9:46265409:G:A p.(Leu1049=) NC_000021.9:46265409:G:A p.(Leu1049=) NC_000021.9:46265409:G:A Identity +NM_001286414.3:c.765G>A NP_001273343.1:p.Lys255= NC_000015.10:43385831:G:A p.(Lys255=) NC_000015.10:43385831:G:A p.(Lys255=) NC_000015.10:43385831:G:A Identity +NM_001105.5:c.1419A>T NP_001096.1:p.Leu473= NC_000002.12:157737641:T:A p.(Leu473=) NC_000002.12:157737641:T:A p.(Leu473=) NC_000002.12:157737641:T:A Identity +NM_031935.3:c.1233T>C NP_114141.2:p.Asp411= NC_000001.11:185923600:T:C p.(Asp411=) NC_000001.11:185923600:T:C p.(Asp411=) NC_000001.11:185923600:T:C Identity +NM_001278511.2:c.747G>A NP_001265440.1:p.Gly249= NC_000015.10:82680683:C:T p.(Gly249=) NC_000015.10:82680683:C:T p.(Gly249=) NC_000015.10:82680683:C:T Identity +NM_000720.4:c.4320C>T NP_000711.1:p.Leu1440= NC_000003.12:53775942:C:T p.(Leu1440=) NC_000003.12:53775942:C:T p.(Leu1440=) NC_000003.12:53775942:C:T Identity +NM_001184985.2:c.3333C>G NP_001171914.1:p.Val1111= NC_000012.12:869058:C:G p.(Val1111=) NC_000012.12:869058:C:G p.(Val1111=) NC_000012.12:869058:C:G Identity +NM_001351059.2:c.1353G>A NP_001337988.1:p.Glu451= NC_000011.10:68050496:G:A p.(Glu451=) NC_000011.10:68050496:G:A p.(Glu451=) NC_000011.10:68050496:G:A Identity +NM_000057.4:c.714C>T NP_000048.1:p.Ile238= NC_000015.10:90749981:C:T p.(Ile238=) NC_000015.10:90749981:C:T p.(Ile238=) NC_000015.10:90749981:C:T Identity +NM_001018064.3:c.1986G>A NP_001018074.1:p.Ala662= NC_000009.12:84955378:G:A p.(Ala662=) NC_000009.12:84955378:G:A p.(Ala662=) NC_000009.12:84955378:G:A Identity +NM_000059.4:c.54C>G NP_000050.3:p.Arg18= NC_000013.11:32316513:C:G p.(Arg18=) NC_000013.11:32316513:C:G p.(Arg18=) NC_000013.11:32316513:C:G Identity +NM_206933.4:c.10602C>T NP_996816.3:p.Tyr3534= NC_000001.11:215782179:G:A p.(Tyr3534=) NC_000001.11:215782179:G:A p.(Tyr3534=) NC_000001.11:215782179:G:A Identity +NM_001363746.1:c.408C>A NP_001350675.1:p.Thr136= NC_000009.12:136199690:G:T p.(Thr136=) NC_000009.12:136199690:G:T p.(Thr136=) NC_000009.12:136199690:G:T Identity +NM_001846.4:c.2265A>G NP_001837.2:p.Pro755= NC_000013.11:110472989:A:G p.(Pro755=) NC_000013.11:110472989:A:G p.(Pro755=) NC_000013.11:110472989:A:G Identity +NM_024529.5:c.525A>G NP_078805.3:p.Glu175= NC_000001.11:193141861:A:G p.(Glu175=) NC_000001.11:193141861:A:G p.(Glu175=) NC_000001.11:193141861:A:G Identity +NM_001130992.3:c.138C>T NP_001124464.1:p.Leu46= NC_000003.12:139539580:G:A p.(Leu46=) NC_000003.12:139539580:G:A p.(Leu46=) NC_000003.12:139539580:G:A Identity +NM_000278.5:c.846G>A NP_000269.3:p.Ser282= NC_000010.11:100809162:G:A p.(Ser282=) NC_000010.11:100809162:G:A p.(Ser282=) NC_000010.11:100809162:G:A Identity +NM_001099952.4:c.4503T>G NP_001093422.2:p.Thr1501= NC_000003.12:4699934:T:G p.(Thr1501=) NC_000003.12:4699934:T:G p.(Thr1501=) NC_000003.12:4699934:T:G Identity +NM_001261826.3:c.1803T>G NP_001248755.1:p.Ala601= NC_000019.10:2117277:A:C p.(Ala601=) NC_000019.10:2117277:A:C p.(Ala601=) NC_000019.10:2117277:A:C Identity +NM_001145412.3:c.1536T>C NP_001138884.1:p.Asp512= NC_000002.12:177231018:A:G p.(Asp512=) NC_000002.12:177231018:A:G p.(Asp512=) NC_000002.12:177231018:A:G Identity +NM_001007204.1:c.300G>A NP_001007205.1:p.Lys100= NC_000001.11:156864739:G:A ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_031935.3:c.6804A>G NP_114141.2:p.Ser2268= NC_000001.11:186053927:A:G p.(Ser2268=) NC_000001.11:186053927:A:G p.(Ser2268=) NC_000001.11:186053927:A:G Identity +NM_001079878.2:c.1215C>T NP_001073347.1:p.Tyr405= NC_000002.12:98396438:C:T p.(Tyr405=) NC_000002.12:98396438:C:T p.(Tyr405=) NC_000002.12:98396438:C:T Identity +NM_001244580.2:c.486C>T NP_001231509.1:p.Tyr162= NC_000007.14:98895798:C:T p.(Tyr162=) NC_000007.14:98895798:C:T p.(Tyr162=) NC_000007.14:98895798:C:T Identity +NM_000091.5:c.2718T>C NP_000082.2:p.Pro906= NC_000002.12:227283827:T:C p.(Pro906=) NC_000002.12:227283827:T:C p.(Pro906=) NC_000002.12:227283827:T:C Identity +NM_032888.4:c.1002T>C NP_116277.2:p.Asp334= NC_000009.12:114168556:T:C p.(Asp334=) NC_000009.12:114168556:T:C p.(Asp334=) NC_000009.12:114168556:T:C Identity +NM_000188.3:c.24C>G NP_000179.2:p.Ala8= NC_000010.11:69318970:C:G p.(Ala8=) NC_000010.11:69318970:C:G p.(Ala8=) NC_000010.11:69318970:C:G Identity +NM_001243254.2:c.1437T>A NP_001230183.1:p.Thr479= NC_000011.10:9180784:A:T p.(Thr479=) NC_000011.10:9180784:A:T p.(Thr479=) NC_000011.10:9180784:A:T Identity +NM_001068.3:c.3858G>A NP_001059.2:p.Leu1286= NC_000003.12:25609625:C:T p.(Leu1286=) NC_000003.12:25609625:C:T p.(Leu1286=) NC_000003.12:25609625:C:T Identity +NM_001122769.3:c.306A>G NP_001116241.1:p.Lys102= NC_000006.12:79513625:T:C p.(Lys102=) NC_000006.12:79513625:T:C p.(Lys102=) NC_000006.12:79513625:T:C Identity +NM_020928.2:c.1137C>T NP_065979.1:p.Gly379= NC_000005.10:61490888:C:T p.(Gly379=) NC_000005.10:61490888:C:T p.(Gly379=) NC_000005.10:61490888:C:T Identity +NM_001080463.2:c.9465T>G NP_001073932.1:p.Ala3155= NC_000011.10:103234057:T:G p.(Ala3155=) NC_000011.10:103234057:T:G p.(Ala3155=) NC_000011.10:103234057:T:G Identity +NM_001365536.1:c.3777T>C NP_001352465.1:p.Cys1259= NC_000002.12:166238117:A:G p.(Cys1259=) NC_000002.12:166238117:A:G p.(Cys1259=) NC_000002.12:166238117:A:G Identity +NM_000445.5:c.10216C>T NP_000436.2:p.Leu3406= NC_000008.11:143919685:G:A p.(Leu3406=) NC_000008.11:143919685:G:A p.(Leu3406=) NC_000008.11:143919685:G:A Identity +NM_003791.4:c.1536A>G NP_003782.1:p.Thr512= NC_000016.10:84074653:T:C p.(Thr512=) NC_000016.10:84074653:T:C p.(Thr512=) NC_000016.10:84074653:T:C Identity +NM_002299.4:c.105A>C NP_002290.2:p.Leu35= NC_000002.12:135837064:T:G p.(Leu35=) NC_000002.12:135837064:T:G p.(Leu35=) NC_000002.12:135837064:T:G Identity +NM_000111.3:c.1824G>C NP_000102.1:p.Leu608= NC_000007.14:107774102:C:G p.(Leu608=) NC_000007.14:107774102:C:G p.(Leu608=) NC_000007.14:107774102:C:G Identity +NM_001105206.3:c.57T>C NP_001098676.2:p.Ala19= NC_000006.12:112254093:A:G p.(Ala19=) NC_000006.12:112254093:A:G p.(Ala19=) NC_000006.12:112254093:A:G Identity +NM_001278055.2:c.13089G>A NP_001264984.1:p.Glu4363= NC_000013.11:23330345:C:T p.(Glu4363=) NC_000013.11:23330345:C:T p.(Glu4363=) NC_000013.11:23330345:C:T Identity +NM_001031737.3:c.1005A>G NP_001026907.2:p.Glu335= NC_000016.10:724153:T:C p.(Glu335=) NC_000016.10:724153:T:C p.(Glu335=) NC_000016.10:724153:T:C Identity +NM_015346.4:c.6303T>C NP_056161.2:p.His2101= NC_000014.9:67762268:A:G p.(His2101=) NC_000014.9:67762268:A:G p.(His2101=) NC_000014.9:67762268:A:G Identity +NM_000821.7:c.840G>A NP_000812.2:p.Leu280= NC_000002.12:85554191:C:T p.(Leu280=) NC_000002.12:85554191:C:T p.(Leu280=) NC_000002.12:85554191:C:T Identity +NM_000720.4:c.5889C>T NP_000711.1:p.Phe1963= NC_000003.12:53808727:C:T p.(Phe1963=) NC_000003.12:53808727:C:T p.(Phe1963=) NC_000003.12:53808727:C:T Identity +NM_020461.4:c.3543C>T NP_065194.3:p.Ala1181= NC_000022.11:50220815:G:A p.(Ala1181=) NC_000022.11:50220815:G:A p.(Ala1181=) NC_000022.11:50220815:G:A Identity +NM_001136536.5:c.522G>A NP_001130008.2:p.Gln174= NC_000004.12:36293698:G:A p.(Gln174=) NC_000004.12:36293698:G:A p.(Gln174=) NC_000004.12:36293698:G:A Identity +NM_001004334.4:c.4902T>A NP_001004334.3:p.Ala1634= NC_000017.11:38328666:A:T p.(Ala1634=) NC_000017.11:38328666:A:T p.(Ala1634=) NC_000017.11:38328666:A:T Identity +NM_001101.5:c.471C>T NP_001092.1:p.Asp157= NC_000007.14:5528611:G:A p.(Asp157=) NC_000007.14:5528611:G:A p.(Asp157=) NC_000007.14:5528611:G:A Identity +NM_001130103.2:c.66G>T NP_001123575.1:p.Ala22= NC_000010.11:69802488:G:T p.(Ala22=) NC_000010.11:69802488:G:T p.(Ala22=) NC_000010.11:69802488:G:T Identity +NM_020921.4:c.4020C>T NP_065972.4:p.Val1340= NC_000014.9:50757009:G:A p.(Val1340=) NC_000014.9:50757009:G:A p.(Val1340=) NC_000014.9:50757009:G:A Identity +NM_014208.3:c.1059A>G NP_055023.2:p.Lys353= NC_000004.12:87613244:A:G p.(Lys353=) NC_000004.12:87613244:A:G p.(Lys353=) NC_000004.12:87613244:A:G Identity +NM_001197330.2:c.883C>T NP_001184259.1:p.Leu295= NC_000014.9:49655061:G:A p.(Leu295=) NC_000014.9:49655061:G:A p.(Leu295=) NC_000014.9:49655061:G:A Identity +NM_001151.4:c.654G>A NP_001142.2:p.Gln218= NC_000004.12:185145813:G:A p.(Gln218=) NC_000004.12:185145813:G:A p.(Gln218=) NC_000004.12:185145813:G:A Identity +NM_018192.4:c.255C>T NP_060662.2:p.Ala85= NC_000003.12:190120476:G:A p.(Ala85=) NC_000003.12:190120476:G:A p.(Ala85=) NC_000003.12:190120476:G:A Identity +NM_000253.4:c.975T>C NP_000244.2:p.Ala325= NC_000004.12:99597131:T:C p.(Ala325=) NC_000004.12:99597131:T:C p.(Ala325=) NC_000004.12:99597131:T:C Identity +NM_001276468.2:c.1290C>T NP_001263397.1:p.Ser430= NC_000012.12:57626890:G:A p.(Ser430=) NC_000012.12:57626890:G:A p.(Ser430=) NC_000012.12:57626890:G:A Identity +NM_001164665.2:c.4857C>T NP_001158137.1:p.Leu1619= NC_000007.14:138868046:G:A p.(Leu1619=) NC_000007.14:138868046:G:A p.(Leu1619=) NC_000007.14:138868046:G:A Identity +NM_001127487.2:c.3177C>T NP_001120959.1:p.Pro1059= NC_000007.14:128844250:C:T p.(Pro1059=) NC_000007.14:128844250:C:T p.(Pro1059=) NC_000007.14:128844250:C:T Identity +NM_001033053.3:c.1371G>A NP_001028225.1:p.Thr457= NC_000017.11:5559324:C:T p.(Thr457=) NC_000017.11:5559324:C:T p.(Thr457=) NC_000017.11:5559324:C:T Identity +NM_001042544.1:c.3618C>T NP_001036009.1:p.Cys1206= NC_000019.10:40622599:C:T p.(Cys1206=) NC_000019.10:40622599:C:T p.(Cys1206=) NC_000019.10:40622599:C:T Identity +NM_000293.3:c.2994C>T NP_000284.1:p.Ile998= NC_000016.10:47696478:C:T p.(Ile998=) NC_000016.10:47696478:C:T p.(Ile998=) NC_000016.10:47696478:C:T Identity +NM_000720.4:c.2352T>A NP_000711.1:p.Ala784= NC_000003.12:53730511:T:A p.(Ala784=) NC_000003.12:53730511:T:A p.(Ala784=) NC_000003.12:53730511:T:A Identity +NM_014804.3:c.438G>A NP_055619.2:p.Arg146= NC_000017.11:6628396:C:T p.(Arg146=) NC_000017.11:6628396:C:T p.(Arg146=) NC_000017.11:6628396:C:T Identity +NM_000352.6:c.4686A>G NP_000343.2:p.Pro1562= NC_000011.10:17393050:T:C p.(Pro1562=) NC_000011.10:17393050:T:C p.(Pro1562=) NC_000011.10:17393050:T:C Identity +NM_001135.4:c.6852G>A NP_001126.3:p.Glu2284= NC_000015.10:88871400:G:A p.(Glu2284=) NC_000015.10:88871400:G:A p.(Glu2284=) NC_000015.10:88871400:G:A Identity +NM_152594.3:c.1329T>A NP_689807.1:p.Ala443= NC_000015.10:38351657:T:A p.(Ala443=) NC_000015.10:38351657:T:A p.(Ala443=) NC_000015.10:38351657:T:A Identity +NM_021620.4:c.1182C>T NP_067633.2:p.Val394= NC_000006.12:99613816:C:T p.(Val394=) NC_000006.12:99613816:C:T p.(Val394=) NC_000006.12:99613816:C:T Identity +NM_001317924.2:c.633C>T NP_001304853.1:p.Thr211= NC_000004.12:39215991:C:T p.(Thr211=) NC_000004.12:39215991:C:T p.(Thr211=) NC_000004.12:39215991:C:T Identity +NM_005720.4:c.153C>T NP_005711.1:p.His51= NC_000007.14:99386772:C:T p.(His51=) NC_000007.14:99386772:C:T p.(His51=) NC_000007.14:99386772:C:T Identity +NM_001171933.1:c.3309G>C NP_001165404.1:p.Val1103= NC_000010.11:71815241:G:C p.(Val1103=) NC_000010.11:71815241:G:C p.(Val1103=) NC_000010.11:71815241:G:C Identity +NM_001195263.2:c.204C>T NP_001182192.1:p.Ile68= NC_000010.11:101030015:G:A p.(Ile68=) NC_000010.11:101030015:G:A p.(Ile68=) NC_000010.11:101030015:G:A Identity +NM_001134418.2:c.1491G>A NP_001127890.1:p.Leu497= NC_000003.12:189963957:C:T p.(Leu497=) NC_000003.12:189963957:C:T p.(Leu497=) NC_000003.12:189963957:C:T Identity +NM_001329148.2:c.1665A>C NP_001316077.1:p.Ser555= NC_000003.12:189890812:A:C p.(Ser555=) NC_000003.12:189890812:A:C p.(Ser555=) NC_000003.12:189890812:A:C Identity +NM_001172696.2:c.603C>G NP_001166167.1:p.Gly201= NC_000012.12:57793041:C:G p.(Gly201=) NC_000012.12:57793041:C:G p.(Gly201=) NC_000012.12:57793041:C:G Identity +NM_015180.6:c.4266C>T NP_055995.4:p.Phe1422= NC_000014.9:64003198:C:T p.(Phe1422=) NC_000014.9:64003198:C:T p.(Phe1422=) NC_000014.9:64003198:C:T Identity +NM_001843.4:c.2664G>T NP_001834.2:p.Gly888= NC_000012.12:41025289:G:T p.(Gly888=) NC_000012.12:41025289:G:T p.(Gly888=) NC_000012.12:41025289:G:T Identity +NM_000117.3:c.66G>T NP_000108.1:p.Pro22= NC_000023.11:154379549:G:T p.(Pro22=) NC_000023.11:154379549:G:T p.(Pro22=) NC_000023.11:154379549:G:T Identity +NM_183075.3:c.453G>A NP_898898.1:p.Pro151= NC_000004.12:107932095:G:A p.(Pro151=) NC_000004.12:107932095:G:A p.(Pro151=) NC_000004.12:107932095:G:A Identity +NM_007374.3:c.624G>A NP_031400.2:p.Glu208= NC_000014.9:60511134:G:A p.(Glu208=) NC_000014.9:60511134:G:A p.(Glu208=) NC_000014.9:60511134:G:A Identity +NM_001130089.2:c.1488A>T NP_001123561.1:p.Ile496= NC_000016.10:75630442:T:A p.(Ile496=) NC_000016.10:75630442:T:A p.(Ile496=) NC_000016.10:75630442:T:A Identity +NM_001363577.2:c.627T>C NP_001350506.1:p.Tyr209= NC_000004.12:26424688:T:C p.(Tyr209=) NC_000004.12:26424688:T:C p.(Tyr209=) NC_000004.12:26424688:T:C Identity +NM_001289396.2:c.2100C>G NP_001276325.1:p.Ser700= NC_000009.12:2077691:C:G p.(Ser700=) NC_000009.12:2077691:C:G p.(Ser700=) NC_000009.12:2077691:C:G Identity +NM_022095.4:c.393G>A NP_071378.1:p.Ser131= NC_000020.11:45969499:C:T p.(Ser131=) NC_000020.11:45969499:C:T p.(Ser131=) NC_000020.11:45969499:C:T Identity +NM_001212.4:c.318T>A NP_001203.1:p.Ser106= NC_000017.11:5438187:A:T p.(Ser106=) NC_000017.11:5438187:A:T p.(Ser106=) NC_000017.11:5438187:A:T Identity +NM_001558.4:c.1149A>G NP_001549.2:p.Thr383= NC_000011.10:117999052:A:G p.(Thr383=) NC_000011.10:117999052:A:G p.(Thr383=) NC_000011.10:117999052:A:G Identity +NM_014639.4:c.258A>G NP_055454.1:p.Lys86= NC_000005.10:95541882:T:C p.(Lys86=) NC_000005.10:95541882:T:C p.(Lys86=) NC_000005.10:95541882:T:C Identity +NM_001014796.3:c.1599A>G NP_001014796.1:p.Thr533= NC_000001.11:162772117:A:G p.(Thr533=) NC_000001.11:162772117:A:G p.(Thr533=) NC_000001.11:162772117:A:G Identity +NM_015072.5:c.1587G>A NP_055887.3:p.Glu529= NC_000014.9:75764650:G:A p.(Glu529=) NC_000014.9:75764650:G:A p.(Glu529=) NC_000014.9:75764650:G:A Identity +NM_001289156.2:c.1020G>C NP_001276085.1:p.Leu340= NC_000015.10:74897627:G:C p.(Leu340=) NC_000015.10:74897627:G:C p.(Leu340=) NC_000015.10:74897627:G:C Identity +NM_001042385.2:c.1377T>C NP_001035844.1:p.Ala459= NC_000002.12:44326894:A:G p.(Ala459=) NC_000002.12:44326894:A:G p.(Ala459=) NC_000002.12:44326894:A:G Identity +NM_000302.4:c.1803C>T NP_000293.2:p.Ile601= NC_000001.11:11970716:C:T p.(Ile601=) NC_000001.11:11970716:C:T p.(Ile601=) NC_000001.11:11970716:C:T Identity +NM_000103.4:c.72C>T NP_000094.2:p.Ala24= NC_000015.10:51242840:G:A p.(Ala24=) NC_000015.10:51242840:G:A p.(Ala24=) NC_000015.10:51242840:G:A Identity +NM_001271466.4:c.1533T>A NP_001258395.2:p.Leu511= NC_000002.12:231278439:T:A p.(Leu511=) NC_000002.12:231278439:T:A p.(Leu511=) NC_000002.12:231278439:T:A Identity +NM_000340.2:c.753T>C NP_000331.1:p.Asp251= NC_000003.12:171005964:A:G p.(Asp251=) NC_000003.12:171005964:A:G p.(Asp251=) NC_000003.12:171005964:A:G Identity +NM_031296.3:c.42G>T NP_112586.1:p.Ser14= NC_000004.12:139454236:G:T p.(Ser14=) NC_000004.12:139454236:G:T p.(Ser14=) NC_000004.12:139454236:G:T Identity +NM_014510.3:c.10767C>T NP_055325.2:p.Asp3589= NC_000007.14:82949820:G:A p.(Asp3589=) NC_000007.14:82949820:G:A p.(Asp3589=) NC_000007.14:82949820:G:A Identity +NM_001035.3:c.5172G>A NP_001026.2:p.Glu1724= NC_000001.11:237614299:G:A p.(Glu1724=) NC_000001.11:237614299:G:A p.(Glu1724=) NC_000001.11:237614299:G:A Identity +NM_000631.5:c.279C>T NP_000622.2:p.Val93= NC_000022.11:36867398:C:T p.(Val93=) NC_000022.11:36867398:C:T p.(Val93=) NC_000022.11:36867398:C:T Identity +NM_001321431.2:c.4596G>A NP_001308360.1:p.Glu1532= NC_000019.10:8109248:C:T p.(Glu1532=) NC_000019.10:8109248:C:T p.(Glu1532=) NC_000019.10:8109248:C:T Identity +NM_001012321.1:c.330C>T NP_001012321.1:p.Asn110= NC_000003.12:39410830:C:T ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found ERR:AlignmentMapper(tx_ac=NM_001012321.1, alt_ac=NM_001012321.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012321.1, alt_ac=NM_001012321.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found +NM_001385110.1:c.751T>C NP_001372039.1:p.Leu251= NC_000012.12:56354484:A:G p.(Leu251=) NC_000012.12:56354484:A:G p.(Leu251=) NC_000012.12:56354484:A:G Identity +NM_001164410.3:c.270T>C NP_001157882.1:p.Tyr90= NC_000007.14:151056621:A:G p.(Tyr90=) NC_000007.14:151056621:A:G p.(Tyr90=) NC_000007.14:151056621:A:G Identity +NM_001193333.3:c.1212G>A NP_001180262.1:p.Leu404= NC_000016.10:30188506:G:A p.(Leu404=) NC_000016.10:30188506:G:A p.(Leu404=) NC_000016.10:30188506:G:A Identity +NM_006766.5:c.5175C>T NP_006757.2:p.Ser1725= NC_000008.11:41933044:G:A p.(Ser1725=) NC_000008.11:41933044:G:A p.(Ser1725=) NC_000008.11:41933044:G:A Identity +NM_000088.4:c.1290G>A NP_000079.2:p.Lys430= NC_000017.11:50195240:C:T p.(Lys430=) NC_000017.11:50195240:C:T p.(Lys430=) NC_000017.11:50195240:C:T Identity +NM_000409.5:c.153G>A NP_000400.2:p.Ser51= NC_000006.12:42173765:G:A p.(Ser51=) NC_000006.12:42173765:G:A p.(Ser51=) NC_000006.12:42173765:G:A Identity +NM_001035506.1:c.2199C>T NP_001030583.1:p.His733= NC_000002.12:27067602:C:T ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001145847.2:c.204G>A NP_001139319.1:p.Pro68= NC_000004.12:16075702:C:T p.(Pro68=) NC_000004.12:16075702:C:T p.(Pro68=) NC_000004.12:16075702:C:T Identity +NM_001256850.1:c.47319C>G NP_001243779.1:p.Pro15773= NC_000002.12:178608768:G:C p.(Pro15773=) NC_000002.12:178608768:G:C p.(Pro15773=) NC_000002.12:178608768:G:C Identity +NM_001135999.2:c.24T>G NP_001129471.2:p.Thr8= NC_000009.12:35546544:T:G p.(Thr8=) NC_000009.12:35546544:T:G p.(Thr8=) NC_000009.12:35546544:T:G Identity +NM_000372.5:c.684T>C NP_000363.1:p.Asp228= NC_000011.10:89178636:T:C p.(Asp228=) NC_000011.10:89178636:T:C p.(Asp228=) NC_000011.10:89178636:T:C Identity +NM_014239.4:c.63C>T NP_055054.1:p.Thr21= NC_000014.9:75003052:C:T p.(Thr21=) NC_000014.9:75003052:C:T p.(Thr21=) NC_000014.9:75003052:C:T Identity +NM_001350888.2:c.30C>T NP_001337817.1:p.Leu10= NC_000014.9:96392183:C:T p.(Leu10=) NC_000014.9:96392183:C:T p.(Leu10=) NC_000014.9:96392183:C:T Identity +NM_199165.2:c.213G>A NP_954634.1:p.Thr71= NC_000014.9:104730104:G:A p.(Thr71=) NC_000014.9:104730104:G:A p.(Thr71=) NC_000014.9:104730104:G:A Identity +NM_001278055.2:c.5055T>C NP_001264984.1:p.Phe1685= NC_000013.11:23338379:A:G p.(Phe1685=) NC_000013.11:23338379:A:G p.(Phe1685=) NC_000013.11:23338379:A:G Identity +NM_020533.3:c.207A>G NP_065394.1:p.Gln69= NC_000019.10:7525135:A:G p.(Gln69=) NC_000019.10:7525135:A:G p.(Gln69=) NC_000019.10:7525135:A:G Identity +NM_001174116.3:c.7968C>T NP_001167587.1:p.Val2656= NC_000015.10:51458753:G:A p.(Val2656=) NC_000015.10:51458753:G:A p.(Val2656=) NC_000015.10:51458753:G:A Identity +NM_001127493.3:c.375A>G NP_001120965.1:p.Val125= NC_000004.12:113232213:A:G p.(Val125=) NC_000004.12:113232213:A:G p.(Val125=) NC_000004.12:113232213:A:G Identity +NM_000310.4:c.459A>G NP_000301.1:p.Pro153= NC_000001.11:40089486:T:C p.(Pro153=) NC_000001.11:40089486:T:C p.(Pro153=) NC_000001.11:40089486:T:C Identity +NM_001163813.2:c.549G>C NP_001157285.1:p.Arg183= NC_000010.11:100993365:G:C p.(Arg183=) NC_000010.11:100993365:G:C p.(Arg183=) NC_000010.11:100993365:G:C Identity +NM_003922.4:c.6585C>G NP_003913.3:p.Pro2195= NC_000015.10:63678329:G:C p.(Pro2195=) NC_000015.10:63678329:G:C p.(Pro2195=) NC_000015.10:63678329:G:C Identity +NM_001098802.3:c.1353G>A NP_001092272.1:p.Glu451= NC_000009.12:78254933:G:A p.(Glu451=) NC_000009.12:78254933:G:A p.(Glu451=) NC_000009.12:78254933:G:A Identity +NM_001039375.3:c.309T>A NP_001034464.1:p.Ile103= NC_000020.11:13788633:T:A p.(Ile103=) NC_000020.11:13788633:T:A p.(Ile103=) NC_000020.11:13788633:T:A Identity +NM_001561.6:c.78T>C NP_001552.2:p.Asp26= NC_000001.11:7939916:A:G p.(Asp26=) NC_000001.11:7939916:A:G p.(Asp26=) NC_000001.11:7939916:A:G Identity +NM_001164317.2:c.7356C>T NP_001157789.1:p.Ile2452= NC_000003.12:58168503:C:T p.(Ile2452=) NC_000003.12:58168503:C:T p.(Ile2452=) NC_000003.12:58168503:C:T Identity +NM_000116.5:c.801G>T NP_000107.1:p.Thr267= NC_000023.11:154420925:G:T p.(Thr267=) NC_000023.11:154420925:G:T p.(Thr267=) NC_000023.11:154420925:G:T Identity +NM_001130103.2:c.603G>A NP_001123575.1:p.Pro201= NC_000010.11:69894577:G:A p.(Pro201=) NC_000010.11:69894577:G:A p.(Pro201=) NC_000010.11:69894577:G:A Identity +NM_001257096.2:c.172C>T NP_001244025.1:p.Leu58= NC_000020.11:21705883:C:T p.(Leu58=) NC_000020.11:21705883:C:T p.(Leu58=) NC_000020.11:21705883:C:T Identity +NM_001037333.3:c.3459C>T NP_001032410.1:p.Gly1153= NC_000005.10:157390532:C:T p.(Gly1153=) NC_000005.10:157390532:C:T p.(Gly1153=) NC_000005.10:157390532:C:T Identity +NM_022124.6:c.6684G>A NP_071407.4:p.Glu2228= NC_000010.11:71793611:G:A p.(Glu2228=) NC_000010.11:71793611:G:A p.(Glu2228=) NC_000010.11:71793611:G:A Identity +NM_003922.4:c.2721A>T NP_003913.3:p.Ser907= NC_000015.10:63733070:T:A p.(Ser907=) NC_000015.10:63733070:T:A p.(Ser907=) NC_000015.10:63733070:T:A Identity +NM_001242581.2:c.1578C>A NP_001229510.1:p.Ile526= NC_000020.11:19975455:C:A p.(Ile526=) NC_000020.11:19975455:C:A p.(Ile526=) NC_000020.11:19975455:C:A Identity +NM_001172574.2:c.36T>C NP_001166045.2:p.Tyr12= NC_000008.11:6409291:T:C p.(Tyr12=) NC_000008.11:6409291:T:C p.(Tyr12=) NC_000008.11:6409291:T:C Identity +NM_032790.4:c.133_135CCG[4] NP_116179.2:p.Pro47_Ser48insPro NC_000012.12:121626879:CCGCCGCCG:CCGCCGCCGCCG p.(Pro47dup) NW_018654719.1:32650:CCG:CCGCCGCCGCCG ERR:Parse ERR:Parse Analogous +NM_001385640.1:c.2490C>A NP_001372569.1:p.Thr830= NC_000001.11:944104:C:A p.(Thr830=) NC_000001.11:944104:C:A p.(Thr830=) NC_000001.11:944104:C:A Identity +NM_001004334.4:c.2232C>T NP_001004334.3:p.Gly744= NC_000017.11:38331336:G:A p.(Gly744=) NC_000017.11:38331336:G:A p.(Gly744=) NC_000017.11:38331336:G:A Identity +NM_001006658.3:c.2394A>T NP_001006659.1:p.Leu798= NC_000001.11:207474893:A:T p.(Leu798=) NC_000001.11:207474893:A:T p.(Leu798=) NC_000001.11:207474893:A:T Identity +NM_001256850.1:c.87201T>C NP_001243779.1:p.Ser29067= NC_000002.12:178549597:A:G p.(Ser29067=) NC_000002.12:178549597:A:G p.(Ser29067=) NC_000002.12:178549597:A:G Identity +NM_014053.4:c.171C>T NP_054772.1:p.Leu57= NC_000001.11:212858622:C:T p.(Leu57=) NC_000001.11:212858622:C:T p.(Leu57=) NC_000001.11:212858622:C:T Identity +NM_001005407.2:c.3345G>C NP_001005407.1:p.Leu1115= NC_000016.10:1208202:G:C p.(Leu1115=) NC_000016.10:1208202:G:C p.(Leu1115=) NC_000016.10:1208202:G:C Identity +NM_002471.4:c.546G>C NP_002462.2:p.Ala182= NC_000014.9:23404806:C:G p.(Ala182=) NC_000014.9:23404806:C:G p.(Ala182=) NC_000014.9:23404806:C:G Identity +NM_006269.2:c.3180A>G NP_006260.1:p.Arg1060= NC_000008.11:54627061:A:G p.(Arg1060=) NC_000008.11:54627061:A:G p.(Arg1060=) NC_000008.11:54627061:A:G Identity +NM_001185039.2:c.480A>G NP_001171968.1:p.Lys160= NC_000017.11:75955891:T:C p.(Lys160=) NC_000017.11:75955891:T:C p.(Lys160=) NC_000017.11:75955891:T:C Identity +NM_001909.5:c.204C>G NP_001900.1:p.Pro68= NC_000011.10:1761332:G:C p.(Pro68=) NC_000011.10:1761332:G:C p.(Pro68=) NC_000011.10:1761332:G:C Identity +NM_001252020.2:c.2622A>G NP_001238949.1:p.Thr874= NC_000015.10:31037710:T:C p.(Thr874=) NC_000015.10:31037710:T:C p.(Thr874=) NC_000015.10:31037710:T:C Identity +NM_000346.4:c.681C>T NP_000337.1:p.His227= NC_000017.11:72122967:C:T p.(His227=) NC_000017.11:72122967:C:T p.(His227=) NC_000017.11:72122967:C:T Identity +LRG_1411t1:c.270G>A LRG_1411p1:p.Lys90= NC_000001.11:58690365:C:T ERR:Data provider error: ValueError: Transcript LRG_1411t1 not found ERR:Data provider error: ValueError: Transcript LRG_1411t1 not found ERR:AlignmentMapper(tx_ac=LRG_1411t1, alt_ac=LRG_1411t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1411t1, alt_ac=LRG_1411t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1411t1 not found +NM_003036.4:c.789G>T NP_003027.1:p.Ser263= NC_000001.11:2229554:G:T p.(Ser263=) NC_000001.11:2229554:G:T p.(Ser263=) NC_000001.11:2229554:G:T Identity +NM_000052.7:c.3354T>A NP_000043.4:p.Gly1118= NC_000023.11:78033663:T:A p.(Gly1118=) NC_000023.11:78033663:T:A p.(Gly1118=) NC_000023.11:78033663:T:A Identity +NM_018060.4:c.1509T>C NP_060530.3:p.Pro503= NC_000001.11:220114342:T:C p.(Pro503=) NC_000001.11:220114342:T:C p.(Pro503=) NC_000001.11:220114342:T:C Identity +NM_001099952.4:c.2247A>G NP_001093422.2:p.Gln749= NC_000003.12:4673177:A:G p.(Gln749=) NC_000003.12:4673177:A:G p.(Gln749=) NC_000003.12:4673177:A:G Identity +NM_000718.4:c.3588T>C NP_000709.1:p.Phe1196= NC_000009.12:138047442:T:C p.(Phe1196=) NC_000009.12:138047442:T:C p.(Phe1196=) NC_000009.12:138047442:T:C Identity +NM_001374425.1:c.153G>C NP_001361354.1:p.Leu51= NC_000001.11:2410410:C:G p.(Leu51=) NC_000001.11:2410410:C:G p.(Leu51=) NC_000001.11:2410410:C:G Identity +NM_001286074.2:c.2721A>G NP_001273003.2:p.Lys907= NC_000023.11:71389604:A:G p.(Lys907=) NC_000023.11:71389604:A:G p.(Lys907=) NC_000023.11:71389604:A:G Identity +NM_006204.4:c.2046C>T NP_006195.3:p.Thr682= NC_000010.11:93658909:C:T p.(Thr682=) NC_000010.11:93658909:C:T p.(Thr682=) NC_000010.11:93658909:C:T Identity +NM_007227.3:c.429G>A NP_009158.3:p.Leu143= NC_000002.12:105242286:G:A p.(Leu143=) NC_000002.12:105242286:G:A p.(Leu143=) NC_000002.12:105242286:G:A Identity +NM_001291411.2:c.1029T>A NP_001278340.2:p.Pro343= NC_000021.9:33550259:T:A p.(Pro343=) NC_000021.9:33550259:T:A p.(Pro343=) NC_000021.9:33550259:T:A Identity +NM_018419.3:c.1065C>A NP_060889.1:p.Arg355= NC_000020.11:64048255:G:T p.(Arg355=) NC_000020.11:64048255:G:T p.(Arg355=) NC_000020.11:64048255:G:T Identity +NM_001005407.2:c.99C>T NP_001005407.1:p.Pro33= NC_000016.10:1153835:C:T p.(Pro33=) NC_000016.10:1153835:C:T p.(Pro33=) NC_000016.10:1153835:C:T Identity +NM_138704.4:c.852G>A NP_619649.1:p.Glu284= NC_000015.10:29268853:C:T p.(Glu284=) NC_000015.10:29268853:C:T p.(Glu284=) NC_000015.10:29268853:C:T Identity +NM_017684.5:c.10902A>G NP_060154.3:p.Val3634= NC_000015.10:61856330:T:C p.(Val3634=) NC_000015.10:61856330:T:C p.(Val3634=) NC_000015.10:61856330:T:C Identity +NM_001136139.4:c.900G>C NP_001129611.1:p.Thr300= NC_000019.10:1621892:C:G p.(Thr300=) NC_000019.10:1621892:C:G p.(Thr300=) NC_000019.10:1621892:C:G Identity +NM_004501.3:c.2334T>C NP_004492.2:p.Asn778= NC_000001.11:244855005:A:G p.(Asn778=) NC_000001.11:244855005:A:G p.(Asn778=) NC_000001.11:244855005:A:G Identity +NM_001278511.2:c.348A>G NP_001265440.1:p.Leu116= NC_000015.10:82681496:T:C p.(Leu116=) NC_000015.10:82681496:T:C p.(Leu116=) NC_000015.10:82681496:T:C Identity +NM_001126132.3:c.78C>T NP_001119604.1:p.Pro26= NC_000019.10:55146461:G:A p.(Pro26=) NC_000019.10:55146461:G:A p.(Pro26=) NC_000019.10:55146461:G:A Identity +NM_001253866.2:c.693A>G NP_001240795.1:p.Thr231= NC_000010.11:27131924:T:C p.(Thr231=) NC_000010.11:27131924:T:C p.(Thr231=) NC_000010.11:27131924:T:C Identity +NM_002641.4:c.1062T>C NP_002632.1:p.Ser354= NC_000023.11:15324790:A:G p.(Ser354=) NC_000023.11:15324790:A:G p.(Ser354=) NC_000023.11:15324790:A:G Identity +NM_001130103.2:c.2028G>A NP_001123575.1:p.Gly676= NC_000010.11:69952883:G:A p.(Gly676=) NC_000010.11:69952883:G:A p.(Gly676=) NC_000010.11:69952883:G:A Identity +NM_001166280.2:c.63T>C NP_001159752.1:p.Thr21= NC_000009.12:110668966:T:C p.(Thr21=) NC_000009.12:110668966:T:C p.(Thr21=) NC_000009.12:110668966:T:C Identity +NM_080476.5:c.1278T>C NP_536724.1:p.Asp426= NC_000020.11:34560895:A:G p.(Asp426=) NC_000020.11:34560895:A:G p.(Asp426=) NC_000020.11:34560895:A:G Identity +NM_001130823.3:c.4146G>C NP_001124295.1:p.Thr1382= NC_000019.10:10137978:C:G p.(Thr1382=) NC_000019.10:10137978:C:G p.(Thr1382=) NC_000019.10:10137978:C:G Identity +NM_001080449.3:c.720G>A NP_001073918.2:p.Leu240= NC_000010.11:68450246:C:T p.(Leu240=) NC_000010.11:68450246:C:T p.(Leu240=) NC_000010.11:68450246:C:T Identity +NM_014727.3:c.1785A>C NP_055542.1:p.Pro595= NC_000019.10:35721131:A:C p.(Pro595=) NC_000019.10:35721131:A:C p.(Pro595=) NC_000019.10:35721131:A:C Identity +NM_001042494.2:c.1800G>A NP_001035959.1:p.Leu600= NC_000015.10:34244038:C:T p.(Leu600=) NC_000015.10:34244038:C:T p.(Leu600=) NC_000015.10:34244038:C:T Identity +NM_001365360.2:c.1146C>T NP_001352289.1:p.Asn382= NC_000016.10:28843112:G:A p.(Asn382=) NC_000016.10:28843112:G:A p.(Asn382=) NC_000016.10:28843112:G:A Identity +NM_001276479.2:c.96C>T NP_001263408.1:p.Pro32= NC_000019.10:5720036:G:A p.(Pro32=) NC_000019.10:5720036:G:A p.(Pro32=) NC_000019.10:5720036:G:A Identity +NM_000721.4:c.1857C>T NP_000712.2:p.Leu619= NC_000001.11:181720310:C:T p.(Leu619=) NC_000001.11:181720310:C:T p.(Leu619=) NC_000001.11:181720310:C:T Identity +NM_022049.3:c.897A>G NP_071332.2:p.Pro299= NC_000001.11:100539862:A:G p.(Pro299=) NC_000001.11:100539862:A:G p.(Pro299=) NC_000001.11:100539862:A:G Identity +NM_000103.4:c.1462C>T NP_000094.2:p.Leu488= NC_000015.10:51210857:G:A p.(Leu488=) NC_000015.10:51210857:G:A p.(Leu488=) NC_000015.10:51210857:G:A Identity +NM_001972.4:c.618G>A NP_001963.1:p.Leu206= NC_000019.10:855977:G:A p.(Leu206=) NC_000019.10:855977:G:A p.(Leu206=) NC_000019.10:855977:G:A Identity +NM_001197104.2:c.11682G>A NP_001184033.1:p.Glu3894= NC_000011.10:118521934:G:A p.(Glu3894=) NC_000011.10:118521934:G:A p.(Glu3894=) NC_000011.10:118521934:G:A Identity +NM_018060.4:c.2556T>A NP_060530.3:p.Ile852= NC_000001.11:220141943:T:A p.(Ile852=) NC_000001.11:220141943:T:A p.(Ile852=) NC_000001.11:220141943:T:A Identity +NM_003482.4:c.10584A>G NP_003473.3:p.Leu3528= NC_000012.12:49034222:T:C p.(Leu3528=) NC_000012.12:49034222:T:C p.(Leu3528=) NC_000012.12:49034222:T:C Identity +NM_015512.5:c.11253C>A NP_056327.4:p.Pro3751= NC_000003.12:52395671:C:A p.(Pro3751=) NC_000003.12:52395671:C:A p.(Pro3751=) NC_000003.12:52395671:C:A Identity +NM_000687.4:c.1089C>T NP_000678.1:p.Thr363= NC_000020.11:34285517:G:A p.(Thr363=) NC_000020.11:34285517:G:A p.(Thr363=) NC_000020.11:34285517:G:A Identity +NM_207361.6:c.2568T>C NP_997244.4:p.Asp856= NC_000013.11:38689911:T:C p.(Asp856=) NC_000013.11:38689911:T:C p.(Asp856=) NC_000013.11:38689911:T:C Identity +NM_000632.4:c.2319C>T NP_000623.2:p.Asp773= NC_000016.10:31324986:C:T p.(Asp773=) NC_000016.10:31324986:C:T p.(Asp773=) NC_000016.10:31324986:C:T Identity +NM_001323956.2:c.558G>C NP_001310885.1:p.Leu186= NC_000020.11:427350:G:C p.(Leu186=) NC_000020.11:427350:G:C p.(Leu186=) NC_000020.11:427350:G:C Identity +NM_024928.5:c.420A>G NP_079204.2:p.Thr140= NC_000010.11:103900098:T:C p.(Thr140=) NC_000010.11:103900098:T:C p.(Thr140=) NC_000010.11:103900098:T:C Identity +NM_133259.4:c.1362T>C NP_573566.2:p.Asn454= NC_000002.12:43973613:A:G p.(Asn454=) NC_000002.12:43973613:A:G p.(Asn454=) NC_000002.12:43973613:A:G Identity +NM_001384165.1:c.492A>G NP_001371094.1:p.Gly164= NC_000017.11:44075838:A:G p.(Gly164=) NC_000017.11:44075838:A:G p.(Gly164=) NC_000017.11:44075838:A:G Identity +NM_001318245.2:c.2745G>T NP_001305174.1:p.Leu915= NC_000022.11:25826457:G:T p.(Leu915=) NC_000022.11:25826457:G:T p.(Leu915=) NC_000022.11:25826457:G:T Identity +NM_001281302.2:c.1620G>A NP_001268231.1:p.Ala540= NC_000005.10:74733084:C:T p.(Ala540=) NC_000005.10:74733084:C:T p.(Ala540=) NC_000005.10:74733084:C:T Identity +NM_001267039.4:c.363T>C NP_001253968.2:p.Asp121= NC_000004.12:112646646:T:C p.(Asp121=) NC_000004.12:112646646:T:C p.(Asp121=) NC_000004.12:112646646:T:C Identity +NM_001142279.2:c.597A>G NP_001135751.1:p.Gln199= NC_000013.11:50945512:A:G p.(Gln199=) NC_000013.11:50945512:A:G p.(Gln199=) NC_000013.11:50945512:A:G Identity +NM_000339.3:c.2943C>T NP_000330.3:p.Leu981= NC_000016.10:56904453:C:T p.(Leu981=) NC_000016.10:56904453:C:T p.(Leu981=) NC_000016.10:56904453:C:T Identity +NM_012414.4:c.4180T>A NP_036546.2:p.Ter1394Arg NC_000001.11:220151252:A:T p.(Ter1394ArgextTer11) NC_000001.11:220151252:A:T p.(Ter1394ArgextTer11) NC_000001.11:220151252:A:T Analogous +NM_000821.7:c.1053A>G NP_000812.2:p.Lys351= NC_000002.12:85553333:T:C p.(Lys351=) NC_000002.12:85553333:T:C p.(Lys351=) NC_000002.12:85553333:T:C Identity +NM_133259.4:c.315A>G NP_573566.2:p.Leu105= NC_000002.12:43982268:T:C p.(Leu105=) NC_000002.12:43982268:T:C p.(Leu105=) NC_000002.12:43982268:T:C Identity +NM_032119.4:c.15894T>C NP_115495.3:p.Thr5298= NC_000005.10:90811153:T:C p.(Thr5298=) NC_000005.10:90811153:T:C p.(Thr5298=) NC_000005.10:90811153:T:C Identity +NM_001242581.2:c.1143G>A NP_001229510.1:p.Thr381= NC_000020.11:19975020:G:A p.(Thr381=) NC_000020.11:19975020:G:A p.(Thr381=) NC_000020.11:19975020:G:A Identity +NM_007129.5:c.1251C>T NP_009060.2:p.Ser417= NC_000013.11:99985333:C:T p.(Ser417=) NC_000013.11:99985333:C:T p.(Ser417=) NC_000013.11:99985333:C:T Identity +NM_002635.4:c.1011C>T NP_002626.1:p.Val337= NC_000012.12:98601452:C:T p.(Val337=) NC_000012.12:98601452:C:T p.(Val337=) NC_000012.12:98601452:C:T Identity +NM_001411127.1:c.510C>T NP_001398056.1:p.Phe170= NC_000019.10:40398775:G:A p.(Phe170=) NC_000019.10:40398775:G:A p.(Phe170=) NC_000019.10:40398775:G:A Identity +NM_198578.4:c.2577C>A NP_940980.4:p.Gly859= NC_000012.12:40287426:C:A p.(Gly859=) NC_000012.12:40287426:C:A p.(Gly859=) NC_000012.12:40287426:C:A Identity +NM_001197104.2:c.10824G>A NP_001184033.1:p.Gly3608= NC_000011.10:118507597:G:A p.(Gly3608=) NC_000011.10:118507597:G:A p.(Gly3608=) NC_000011.10:118507597:G:A Identity +NM_001367830.1:c.3738C>T NP_001354759.1:p.Asn1246= NC_000019.10:11217308:G:A p.(Asn1246=) NC_000019.10:11217308:G:A p.(Asn1246=) NC_000019.10:11217308:G:A Identity +NM_000109.4:c.2232G>A NP_000100.3:p.Lys744= NC_000023.11:32518043:C:T p.(Lys744=) NC_000023.11:32518043:C:T p.(Lys744=) NC_000023.11:32518043:C:T Identity +NM_002180.3:c.516C>T NP_002171.2:p.Gly172= NC_000011.10:68908599:C:T p.(Gly172=) NC_000011.10:68908599:C:T p.(Gly172=) NC_000011.10:68908599:C:T Identity +NM_001999.4:c.6468A>G NP_001990.2:p.Pro2156= NC_000005.10:128289924:T:C p.(Pro2156=) NC_000005.10:128289924:T:C p.(Pro2156=) NC_000005.10:128289924:T:C Identity +NM_000718.4:c.5889C>T NP_000709.1:p.Ile1963= NC_000009.12:138118056:C:T p.(Ile1963=) NC_000009.12:138118056:C:T p.(Ile1963=) NC_000009.12:138118056:C:T Identity +NM_015512.5:c.10203C>T NP_056327.4:p.Ser3401= NC_000003.12:52392613:C:T p.(Ser3401=) NC_000003.12:52392613:C:T p.(Ser3401=) NC_000003.12:52392613:C:T Identity +NM_001101802.3:c.303C>T NP_001095272.1:p.Tyr101= NC_000011.10:45979816:G:A p.(Tyr101=) NC_000011.10:45979816:G:A p.(Tyr101=) NC_000011.10:45979816:G:A Identity +NM_001083116.3:c.1260C>T NP_001076585.1:p.Thr420= NC_000010.11:70598460:G:A p.(Thr420=) NC_000010.11:70598460:G:A p.(Thr420=) NC_000010.11:70598460:G:A Identity +NM_001376058.1:c.105T>C NP_001362987.1:p.Cys35= NC_000003.12:57199813:A:G p.(Cys35=) NC_000003.12:57199813:A:G p.(Cys35=) NC_000003.12:57199813:A:G Identity +NM_001267039.4:c.1596T>C NP_001253968.2:p.Tyr532= NC_000004.12:112654086:T:C p.(Tyr532=) NC_000004.12:112654086:T:C p.(Tyr532=) NC_000004.12:112654086:T:C Identity +NM_001306079.2:c.4443C>G NP_001293008.1:p.Thr1481= NC_000002.12:27237785:C:G p.(Thr1481=) NC_000002.12:27237785:C:G p.(Thr1481=) NC_000002.12:27237785:C:G Identity +NM_000293.3:c.798T>C NP_000284.1:p.Phe266= NC_000016.10:47587690:T:C p.(Phe266=) NC_000016.10:47587690:T:C p.(Phe266=) NC_000016.10:47587690:T:C Identity +NM_001384880.1:c.2142G>T NP_001371809.1:p.Val714= NC_000002.12:190974865:C:A p.(Val714=) NC_000002.12:190974865:C:A p.(Val714=) NC_000002.12:190974865:C:A Identity +NM_000429.3:c.66G>C NP_000420.1:p.Ser22= NC_000010.11:80289357:C:G p.(Ser22=) NC_000010.11:80289357:C:G p.(Ser22=) NC_000010.11:80289357:C:G Identity +NM_198506.5:c.1668A>G NP_940908.3:p.Pro556= NC_000004.12:109870416:A:G p.(Pro556=) NC_000004.12:109870416:A:G p.(Pro556=) NC_000004.12:109870416:A:G Identity +NM_000251.3:c.687A>G NP_000242.1:p.Lys229= NC_000002.12:47412454:A:G p.(Lys229=) NC_000002.12:47412454:A:G p.(Lys229=) NC_000002.12:47412454:A:G Identity +NM_001244189.2:c.2463C>T NP_001231118.1:p.Val821= NC_000014.9:58467783:C:T p.(Val821=) NC_000014.9:58467783:C:T p.(Val821=) NC_000014.9:58467783:C:T Identity +NM_001008389.3:c.885G>C NP_001008390.1:p.Gly295= NC_000016.10:20348310:C:G p.(Gly295=) NC_000016.10:20348310:C:G p.(Gly295=) NC_000016.10:20348310:C:G Identity +NM_001288653.2:c.3303G>A NP_001275582.1:p.Glu1101= NC_000017.11:59681687:G:A p.(Glu1101=) NC_000017.11:59681687:G:A p.(Glu1101=) NC_000017.11:59681687:G:A Identity +NM_001345950.1:c.243G>C NP_001332879.1:p.Leu81= NC_000010.11:102644859:G:C p.(Leu81=) NC_000010.11:102644859:G:C p.(Leu81=) NC_000010.11:102644859:G:C Identity +NM_000760.4:c.273C>T NP_000751.1:p.His91= NC_000001.11:36475464:G:A p.(His91=) NC_000001.11:36475464:G:A p.(His91=) NC_000001.11:36475464:G:A Identity +NM_001029883.3:c.3558T>G NP_001025054.1:p.Pro1186= NC_000002.12:29070703:A:C p.(Pro1186=) NC_000002.12:29070703:A:C p.(Pro1186=) NC_000002.12:29070703:A:C Identity +NM_001202554.2:c.418C>T NP_001189483.1:p.Leu140= NC_000001.11:26794451:C:T p.(Leu140=) NC_000001.11:26794451:C:T p.(Leu140=) NC_000001.11:26794451:C:T Identity +NM_001101417.4:c.21_44del NP_001094887.1:p.Ser8_Gly15del NC_000007.14:16421278:CCCGGCTCCGCCGGCCTGGCGCTGCCCGGC:CCCGGC p.(Ser8_Gly15del) NC_000007.14:16421278:CCCGGCTCCGCCGGCCTGGCGCTGCCCGGC:CCCGGC p.(Ser8_Gly15del) NC_000007.14:16421278:CCCGGCTCCGCCGGCCTGGCGCTG: Identity +NM_001942.4:c.525G>T NP_001933.2:p.Leu175= NC_000018.10:31331707:G:T p.(Leu175=) NC_000018.10:31331707:G:T p.(Leu175=) NC_000018.10:31331707:G:T Identity +NM_001126335.2:c.45G>C NP_001119807.1:p.Ser15= NC_000019.10:32868489:C:G p.(Ser15=) NC_000019.10:32868489:C:G p.(Ser15=) NC_000019.10:32868489:C:G Identity +NM_000284.4:c.717C>T NP_000275.1:p.Ser239= NC_000023.11:19355461:C:T p.(Ser239=) NC_000023.11:19355461:C:T p.(Ser239=) NC_000023.11:19355461:C:T Identity +NM_000587.4:c.2166A>T NP_000578.2:p.Gly722= NC_000005.10:40979724:A:T p.(Gly722=) NC_000005.10:40979724:A:T p.(Gly722=) NC_000005.10:40979724:A:T Identity +NM_001142279.2:c.96A>G NP_001135751.1:p.Lys32= NC_000013.11:50927437:A:G p.(Lys32=) NC_000013.11:50927437:A:G p.(Lys32=) NC_000013.11:50927437:A:G Identity +NM_001174089.2:c.2379C>T NP_001167560.1:p.Leu793= NC_000020.11:3228520:G:A p.(Leu793=) NC_000020.11:3228520:G:A p.(Leu793=) NC_000020.11:3228520:G:A Identity +NM_012079.6:c.417G>A NP_036211.2:p.Ala139= NC_000008.11:144318749:C:T p.(Ala139=) NC_000008.11:144318749:C:T p.(Ala139=) NC_000008.11:144318749:C:T Identity +NM_000253.4:c.2661T>C NP_000244.2:p.Asp887= NC_000004.12:99622823:T:C p.(Asp887=) NC_000004.12:99622823:T:C p.(Asp887=) NC_000004.12:99622823:T:C Identity +NM_001081640.2:c.11064C>T NP_001075109.1:p.Ser3688= NC_000008.11:47785155:G:A p.(Ser3688=) NC_000008.11:47785155:G:A p.(Ser3688=) NC_000008.11:47785155:G:A Identity +NM_003701.4:c.711A>G NP_003692.1:p.Gln237= NC_000013.11:42606674:A:G p.(Gln237=) NC_000013.11:42606674:A:G p.(Gln237=) NC_000013.11:42606674:A:G Identity +NM_001190388.2:c.1149T>C NP_001177317.2:p.Tyr383= NC_000009.12:36223457:A:G p.(Tyr383=) NC_000009.12:36223457:A:G p.(Tyr383=) NC_000009.12:36223457:A:G Identity +NM_004311.4:c.336G>A NP_004302.1:p.Glu112= NC_000010.11:102685980:C:T p.(Glu112=) NC_000010.11:102685980:C:T p.(Glu112=) NC_000010.11:102685980:C:T Identity +NM_020987.5:c.6303C>A NP_066267.2:p.Ser2101= NC_000010.11:60074577:G:T p.(Ser2101=) NC_000010.11:60074577:G:T p.(Ser2101=) NC_000010.11:60074577:G:T Identity +NM_001999.4:c.78G>T NP_001990.2:p.Thr26= NC_000005.10:128537525:C:A p.(Thr26=) NC_000005.10:128537525:C:A p.(Thr26=) NC_000005.10:128537525:C:A Identity +NM_000323.2:c.924G>A NP_000314.1:p.Gly308= NC_000010.11:43106431:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_014516.4:c.729C>T NP_055331.1:p.Pro243= NC_000019.10:54145934:C:T p.(Pro243=) NC_000019.10:54145934:C:T p.(Pro243=) NC_000019.10:54145934:C:T Identity +NM_001006600.3:c.2109C>T NP_001006600.1:p.Asn703= NC_000005.10:66053426:C:T p.(Asn703=) NC_000005.10:66053426:C:T p.(Asn703=) NC_000005.10:66053426:C:T Identity +NM_000065.5:c.831C>T NP_000056.2:p.Ser277= NC_000005.10:41181454:G:A p.(Ser277=) NC_000005.10:41181454:G:A p.(Ser277=) NC_000005.10:41181454:G:A Identity +NM_001231.5:c.549T>C NP_001222.3:p.Ile183= NC_000001.11:160195094:T:C p.(Ile183=) NC_000001.11:160195094:T:C p.(Ile183=) NC_000001.11:160195094:T:C Identity +NM_001621.5:c.2382C>T NP_001612.1:p.Gly794= NC_000007.14:17340206:C:T p.(Gly794=) NC_000007.14:17340206:C:T p.(Gly794=) NC_000007.14:17340206:C:T Identity +NM_001127218.3:c.1400dup NP_001120690.1:p.Ter470LeuextTer? NC_000007.14:44114794:A:AA p.(Ter470LeufsTer25) NC_000007.14:44114794:A:AA p.(Ter470LeuextTer24) ERR:SPDI Different +NM_000979.4:c.204G>A NP_000970.1:p.Arg68= NC_000019.10:48616818:C:T p.(Arg68=) NC_000019.10:48616818:C:T p.(Arg68=) NC_000019.10:48616818:C:T Identity +NM_001242581.2:c.2164C>T NP_001229510.1:p.Leu722= NC_000020.11:19990259:C:T p.(Leu722=) NC_000020.11:19990259:C:T p.(Leu722=) NC_000020.11:19990259:C:T Identity +NM_001109974.3:c.810G>A NP_001103444.1:p.Pro270= NC_000005.10:150649084:G:A p.(Pro270=) NC_000005.10:150649084:G:A p.(Pro270=) NC_000005.10:150649084:G:A Identity +NM_000263.4:c.990C>T NP_000254.2:p.Ala330= NC_000017.11:42541174:C:T p.(Ala330=) NC_000017.11:42541174:C:T p.(Ala330=) NC_000017.11:42541174:C:T Identity +NM_000030.3:c.216C>T NP_000021.1:p.Asn72= NC_000002.12:240869219:C:T p.(Asn72=) NC_000002.12:240869219:C:T p.(Asn72=) NC_000002.12:240869219:C:T Identity +NM_001128431.4:c.1176G>A NP_001121903.1:p.Gly392= NC_000008.11:22417678:G:A p.(Gly392=) NC_000008.11:22417678:G:A p.(Gly392=) NC_000008.11:22417678:G:A Identity +NM_001081640.2:c.10194T>C NP_001075109.1:p.Pro3398= NC_000008.11:47799312:A:G p.(Pro3398=) NC_000008.11:47799312:A:G p.(Pro3398=) NC_000008.11:47799312:A:G Identity +NM_020949.3:c.384G>A NP_066000.2:p.Gly128= NC_000003.12:170501265:C:T p.(Gly128=) NC_000003.12:170501265:C:T p.(Gly128=) NC_000003.12:170501265:C:T Identity +NM_001011649.3:c.1711C>T NP_001011649.1:p.Leu571= NC_000009.12:120477365:G:A p.(Leu571=) NC_000009.12:120477365:G:A p.(Leu571=) NC_000009.12:120477365:G:A Identity +NM_001278511.2:c.1623T>C NP_001265440.1:p.Tyr541= NC_000015.10:82666879:A:G p.(Tyr541=) NC_000015.10:82666879:A:G p.(Tyr541=) NC_000015.10:82666879:A:G Identity +NM_000080.4:c.1203G>C NP_000071.1:p.Arg401= NC_000017.11:4899213:C:G p.(Arg401=) NC_000017.11:4899213:C:G p.(Arg401=) NC_000017.11:4899213:C:G Identity +NM_001040436.3:c.804A>C NP_001035526.1:p.Gly268= NC_000012.12:32754060:T:G p.(Gly268=) NC_000012.12:32754060:T:G p.(Gly268=) NC_000012.12:32754060:T:G Identity +NM_001394062.1:c.19558T>C NP_001380991.1:p.Leu6520= NC_000001.11:39444787:T:C p.(Leu6520=) NC_000001.11:39444787:T:C p.(Leu6520=) NC_000001.11:39444787:T:C Identity +NM_001384732.1:c.8769A>C NP_001371661.1:p.Thr2923= NC_000005.10:37138742:T:G p.(Thr2923=) NC_000005.10:37138742:T:G p.(Thr2923=) NC_000005.10:37138742:T:G Identity +NM_001142800.2:c.7137A>G NP_001136272.1:p.Pro2379= NC_000006.12:63864276:T:C p.(Pro2379=) NC_000006.12:63864276:T:C p.(Pro2379=) NC_000006.12:63864276:T:C Identity +NM_000190.4:c.253C>T NP_000181.2:p.Leu85= NC_000011.10:119089258:C:T p.(Leu85=) NC_000011.10:119089258:C:T p.(Leu85=) NC_000011.10:119089258:C:T Identity +NM_001127687.1:c.684C>T NP_001121159.1:p.Phe228= NC_000001.11:202943878:G:A ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found ERR:AlignmentMapper(tx_ac=NM_001127687.1, alt_ac=NM_001127687.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127687.1, alt_ac=NM_001127687.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found +NM_001039476.3:c.603C>T NP_001034565.1:p.Pro201= NC_000016.10:92616:G:A p.(Pro201=) NC_000016.10:92616:G:A p.(Pro201=) NC_000016.10:92616:G:A Identity +NM_001271.4:c.3417C>T NP_001262.3:p.Phe1139= NC_000015.10:92991478:C:T p.(Phe1139=) NC_000015.10:92991478:C:T p.(Phe1139=) NC_000015.10:92991478:C:T Identity +NM_001416202.1:c.2844T>C NP_001403131.1:p.Pro948= NC_000012.12:53060749:T:C p.(Pro948=) NC_000012.12:53060749:T:C p.(Pro948=) NC_000012.12:53060749:T:C Identity +NM_001207006.3:c.72C>T NP_001193935.1:p.Val24= NC_000004.12:122620939:G:A p.(Val24=) NC_000004.12:122620939:G:A p.(Val24=) NC_000004.12:122620939:G:A Identity +NM_001321881.2:c.465A>G NP_001308810.1:p.Lys155= NC_000009.12:85962128:A:G p.(Lys155=) NC_000009.12:85962128:A:G p.(Lys155=) NC_000009.12:85962128:A:G Identity +NM_014014.5:c.5583G>A NP_054733.2:p.Arg1861= NC_000002.12:96278263:C:T p.(Arg1861=) NC_000002.12:96278263:C:T p.(Arg1861=) NC_000002.12:96278263:C:T Identity +NM_001370534.1:c.1155C>A NP_001357463.1:p.Val385= NC_000016.10:74637894:G:T p.(Val385=) NC_000016.10:74637894:G:T p.(Val385=) NC_000016.10:74637894:G:T Identity +NM_001159508.3:c.699C>T NP_001152980.2:p.Ala233= NC_000015.10:40414892:C:T p.(Ala233=) NC_000015.10:40414892:C:T p.(Ala233=) NC_000015.10:40414892:C:T Identity +NM_001018088.3:c.3423A>G NP_001018098.1:p.Thr1141= NC_000015.10:61962760:T:C p.(Thr1141=) NC_000015.10:61962760:T:C p.(Thr1141=) NC_000015.10:61962760:T:C Identity +NM_005560.6:c.6240G>A NP_005551.3:p.Glu2080= NC_000020.11:62322374:C:T p.(Glu2080=) NC_000020.11:62322374:C:T p.(Glu2080=) NC_000020.11:62322374:C:T Identity +NM_001079846.1:c.435C>G NP_001073315.1:p.Pro145= NC_000016.10:3850659:G:C p.(Pro145=) NC_000016.10:3850659:G:C p.(Pro145=) NC_000016.10:3850659:G:C Identity +NM_000718.4:c.1635C>A NP_000709.1:p.Ser545= NC_000009.12:137975997:C:A p.(Ser545=) NC_000009.12:137975997:C:A p.(Ser545=) NC_000009.12:137975997:C:A Identity +NM_030928.4:c.867G>A NP_112190.2:p.Ser289= NC_000016.10:88806054:G:A p.(Ser289=) NC_000016.10:88806054:G:A p.(Ser289=) NC_000016.10:88806054:G:A Identity +NM_001134453.3:c.1374T>C NP_001127925.1:p.Tyr458= NC_000018.10:31400976:T:C p.(Tyr458=) NC_000018.10:31400976:T:C p.(Tyr458=) NC_000018.10:31400976:T:C Identity +NM_002292.4:c.3654G>A NP_002283.3:p.Leu1218= NC_000003.12:49123870:C:T p.(Leu1218=) NC_000003.12:49123870:C:T p.(Leu1218=) NC_000003.12:49123870:C:T Identity +NM_032130.3:c.312G>A NP_115506.1:p.Leu104= NC_000012.12:49604322:C:T p.(Leu104=) NC_000012.12:49604322:C:T p.(Leu104=) NC_000012.12:49604322:C:T Identity +NM_001304438.2:c.1644C>A NP_001291367.1:p.Leu548= NC_000017.11:34632864:C:A p.(Leu548=) NC_000017.11:34632864:C:A p.(Leu548=) NC_000017.11:34632864:C:A Identity +NM_001243254.2:c.45C>T NP_001230183.1:p.Phe15= NC_000011.10:9265024:G:A p.(Phe15=) NC_000011.10:9265024:G:A p.(Phe15=) NC_000011.10:9265024:G:A Identity +NM_000119.3:c.1966C>T NP_000110.2:p.Leu656= NC_000015.10:43201880:G:A p.(Leu656=) NC_000015.10:43201880:G:A p.(Leu656=) NC_000015.10:43201880:G:A Identity +NM_001005862.3:c.1782G>A NP_001005862.1:p.Gln594= NC_000017.11:39717453:G:A p.(Gln594=) NC_000017.11:39717453:G:A p.(Gln594=) NC_000017.11:39717453:G:A Identity +NM_014762.4:c.24C>T NP_055577.1:p.Ala8= NC_000001.11:54887095:G:A p.(Ala8=) NC_000001.11:54887095:G:A p.(Ala8=) NC_000001.11:54887095:G:A Identity +NM_004446.3:c.2778T>C NP_004437.2:p.Asp926= NC_000001.11:219987401:A:G p.(Asp926=) NC_000001.11:219987401:A:G p.(Asp926=) NC_000001.11:219987401:A:G Identity +NM_001126131.2:c.3054C>A NP_001119603.1:p.Gly1018= NC_000015.10:89319277:G:T p.(Gly1018=) NC_000015.10:89319277:G:T p.(Gly1018=) NC_000015.10:89319277:G:T Identity +NM_001363227.2:c.48C>T NP_001350156.1:p.Ser16= NC_000008.11:43140543:C:T p.(Ser16=) NC_000008.11:43140543:C:T p.(Ser16=) NC_000008.11:43140543:C:T Identity +NM_001308133.2:c.4587T>C NP_001295062.1:p.Ala1529= NC_000014.9:45185365:T:C p.(Ala1529=) NC_000014.9:45185365:T:C p.(Ala1529=) NC_000014.9:45185365:T:C Identity +NM_000721.4:c.6612G>A NP_000712.2:p.Glu2204= NC_000001.11:181798632:G:A p.(Glu2204=) NC_000001.11:181798632:G:A p.(Glu2204=) NC_000001.11:181798632:G:A Identity +LRG_47t1:c.360G>A LRG_47p1:p.Leu120= NC_000001.11:196675997:G:A ERR:Data provider error: ValueError: Transcript LRG_47t1 not found ERR:Data provider error: ValueError: Transcript LRG_47t1 not found ERR:AlignmentMapper(tx_ac=LRG_47t1, alt_ac=LRG_47t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_47t1, alt_ac=LRG_47t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_47t1 not found +NM_080476.5:c.202T>C NP_536724.1:p.Leu68= NC_000020.11:34645327:A:G p.(Leu68=) NC_000020.11:34645327:A:G p.(Leu68=) NC_000020.11:34645327:A:G Identity +NM_014003.4:c.3189C>T NP_054722.2:p.Gly1063= NC_000016.10:72108540:C:T p.(Gly1063=) NC_000016.10:72108540:C:T p.(Gly1063=) NC_000016.10:72108540:C:T Identity +NM_138459.5:c.249C>T NP_612468.1:p.His83= NC_000006.12:117675918:C:T p.(His83=) NC_000006.12:117675918:C:T p.(His83=) NC_000006.12:117675918:C:T Identity +NM_001143779.2:c.1095C>T NP_001137251.1:p.Ala365= NC_000012.12:110162971:C:T p.(Ala365=) NC_000012.12:110162971:C:T p.(Ala365=) NC_000012.12:110162971:C:T Identity +NM_001099952.4:c.6687T>C NP_001093422.2:p.Cys2229= NC_000003.12:4795086:T:C p.(Cys2229=) NC_000003.12:4795086:T:C p.(Cys2229=) NC_000003.12:4795086:T:C Identity +NM_001127487.2:c.2919C>T NP_001120959.1:p.Gly973= NC_000007.14:128843902:C:T p.(Gly973=) NC_000007.14:128843902:C:T p.(Gly973=) NC_000007.14:128843902:C:T Identity +NM_006231.4:c.3132A>G NP_006222.2:p.Glu1044= NC_000012.12:132659437:T:C p.(Glu1044=) NC_000012.12:132659437:T:C p.(Glu1044=) NC_000012.12:132659437:T:C Identity +NM_001081676.2:c.3195C>T NP_001075145.1:p.Asn1065= NC_000002.12:165127681:G:A p.(Asn1065=) NC_000002.12:165127681:G:A p.(Asn1065=) NC_000002.12:165127681:G:A Identity +NM_001142800.2:c.8704T>C NP_001136272.1:p.Leu2902= NC_000006.12:63721326:A:G p.(Leu2902=) NC_000006.12:63721326:A:G p.(Leu2902=) NC_000006.12:63721326:A:G Identity +NM_014975.3:c.1641G>A NP_055790.1:p.Val547= NC_000019.10:12865317:G:A p.(Val547=) NC_000019.10:12865317:G:A p.(Val547=) NC_000019.10:12865317:G:A Identity +NM_000388.4:c.2127G>A NP_000379.3:p.Lys709= NC_000003.12:122284080:G:A p.(Lys709=) NC_000003.12:122284080:G:A p.(Lys709=) NC_000003.12:122284080:G:A Identity +NM_001260474.2:c.1098C>T NP_001247403.1:p.Asn366= NC_000021.9:42850186:G:A p.(Asn366=) NC_000021.9:42850186:G:A p.(Asn366=) NC_000021.9:42850186:G:A Identity +NM_001363227.2:c.918A>G NP_001350156.1:p.Ser306= NC_000008.11:43178139:A:G p.(Ser306=) NC_000008.11:43178139:A:G p.(Ser306=) NC_000008.11:43178139:A:G Identity +NM_001346813.1:c.183G>C NP_001333742.1:p.Thr61= NC_000006.12:156778111:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001306079.2:c.5895T>C NP_001293008.1:p.Pro1965= NC_000002.12:27242110:T:C p.(Pro1965=) NC_000002.12:27242110:T:C p.(Pro1965=) NC_000002.12:27242110:T:C Identity +NM_001710.6:c.1578T>C NP_001701.2:p.His526= NC_000006.12:31950356:T:C p.(His526=) NC_000006.12:31950356:T:C p.(His526=) NC_000006.12:31950356:T:C Identity +NM_001197104.2:c.6180C>T NP_001184033.1:p.Ser2060= NC_000011.10:118501007:C:T p.(Ser2060=) NC_000011.10:118501007:C:T p.(Ser2060=) NC_000011.10:118501007:C:T Identity +NM_006903.4:c.19C>T NP_008834.3:p.Leu7= NC_000004.12:105474031:G:A p.(Leu7=) NC_000004.12:105474031:G:A p.(Leu7=) NC_000004.12:105474031:G:A Identity +NM_014516.4:c.711G>A NP_055331.1:p.Ala237= NC_000019.10:54145916:G:A p.(Ala237=) NC_000019.10:54145916:G:A p.(Ala237=) NC_000019.10:54145916:G:A Identity +NM_004459.7:c.4266G>C NP_004450.3:p.Val1422= NC_000017.11:67911771:G:C p.(Val1422=) NC_000017.11:67911771:G:C p.(Val1422=) NC_000017.11:67911771:G:C Identity +NM_001317335.2:c.693G>A NP_001304264.1:p.Ser231= NC_000019.10:863147:G:A p.(Ser231=) NC_000019.10:863147:G:A p.(Ser231=) NC_000019.10:863147:G:A Identity +NM_004944.4:c.276G>A NP_004935.1:p.Arg92= NC_000003.12:58205514:C:T p.(Arg92=) NC_000003.12:58205514:C:T p.(Arg92=) NC_000003.12:58205514:C:T Identity +NM_001306090.2:c.2340C>T NP_001293019.1:p.Tyr780= NC_000004.12:5801984:C:T p.(Tyr780=) NC_000004.12:5801984:C:T p.(Tyr780=) NC_000004.12:5801984:C:T Identity +NM_000196.4:c.24G>A NP_000187.3:p.Ser8= NC_000016.10:67431271:G:A p.(Ser8=) NC_000016.10:67431271:G:A p.(Ser8=) NC_000016.10:67431271:G:A Identity +NM_004523.4:c.3048A>G NP_004514.2:p.Lys1016= NC_000010.11:92653672:A:G p.(Lys1016=) NC_000010.11:92653672:A:G p.(Lys1016=) NC_000010.11:92653672:A:G Identity +NM_001243571.2:c.1242T>C NP_001230500.1:p.Cys414= NC_000011.10:95841637:A:G p.(Cys414=) NC_000011.10:95841637:A:G p.(Cys414=) NC_000011.10:95841637:A:G Identity +NM_001146702.2:c.1191C>G NP_001140174.1:p.Pro397= NC_000023.11:53211505:G:C p.(Pro397=) NC_000023.11:53211505:G:C p.(Pro397=) NC_000023.11:53211505:G:C Identity +NM_001164507.2:c.4851C>T NP_001157979.2:p.Gly1617= NC_000002.12:151666269:G:A p.(Gly1617=) NC_000002.12:151666269:G:A p.(Gly1617=) NC_000002.12:151666269:G:A Identity +NM_001256182.2:c.3228G>A NP_001243111.1:p.Arg1076= NC_000016.10:89283313:C:T p.(Arg1076=) NC_000016.10:89283313:C:T p.(Arg1076=) NC_000016.10:89283313:C:T Identity +NM_001256850.1:c.15966T>C NP_001243779.1:p.Phe5322= NC_000002.12:178731957:A:G p.(Phe5322=) NC_000002.12:178731957:A:G p.(Phe5322=) NC_000002.12:178731957:A:G Identity +NM_000834.5:c.2319G>A NP_000825.2:p.Lys773= NC_000012.12:13569869:C:T p.(Lys773=) NC_000012.12:13569869:C:T p.(Lys773=) NC_000012.12:13569869:C:T Identity +NM_001003800.2:c.1230G>A NP_001003800.1:p.Leu410= NC_000009.12:92719414:C:T p.(Leu410=) NC_000009.12:92719414:C:T p.(Leu410=) NC_000009.12:92719414:C:T Identity +NM_001379261.1:c.1827T>C NP_001366190.1:p.Leu609= NC_000016.10:69330991:A:G p.(Leu609=) NC_000016.10:69330991:A:G p.(Leu609=) NC_000016.10:69330991:A:G Identity +NM_001164507.2:c.13215C>T NP_001157979.2:p.Asp4405= NC_000002.12:151603616:G:A p.(Asp4405=) NC_000002.12:151603616:G:A p.(Asp4405=) NC_000002.12:151603616:G:A Identity +NM_000435.3:c.6294G>A NP_000426.2:p.Thr2098= NC_000019.10:15161333:C:T p.(Thr2098=) NC_000019.10:15161333:C:T p.(Thr2098=) NC_000019.10:15161333:C:T Identity +NM_172089.4:c.438C>T NP_742086.1:p.Tyr146= NC_000017.11:7556841:C:T p.(Tyr146=) NC_000017.11:7556841:C:T p.(Tyr146=) NC_000017.11:7556841:C:T Identity +NM_001135.4:c.2178T>C NP_001126.3:p.Thr726= NC_000015.10:88851944:T:C p.(Thr726=) NC_000015.10:88851944:T:C p.(Thr726=) NC_000015.10:88851944:T:C Identity +NM_000053.4:c.234C>T NP_000044.2:p.Asp78= NC_000013.11:51974985:G:A p.(Asp78=) NC_000013.11:51974985:G:A p.(Asp78=) NC_000013.11:51974985:G:A Identity +NM_000541.5:c.1200G>A NP_000532.2:p.Lys400= NC_000002.12:233346893:G:A p.(Lys400=) NC_000002.12:233346893:G:A p.(Lys400=) NC_000002.12:233346893:G:A Identity +NM_020533.3:c.495C>G NP_065394.1:p.Leu165= NC_000019.10:7526849:C:G p.(Leu165=) NC_000019.10:7526849:C:G p.(Leu165=) NC_000019.10:7526849:C:G Identity +LRG_1149t2:c.3453G>A LRG_1149p2:p.Glu1151= NC_000020.11:63695174:G:A ERR:Data provider error: ValueError: Transcript LRG_1149t2 not found ERR:Data provider error: ValueError: Transcript LRG_1149t2 not found ERR:AlignmentMapper(tx_ac=LRG_1149t2, alt_ac=LRG_1149t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1149t2, alt_ac=LRG_1149t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1149t2 not found +NM_000425.5:c.972G>A NP_000416.1:p.Ala324= NC_000023.11:153870074:C:T p.(Ala324=) NC_000023.11:153870074:C:T p.(Ala324=) NC_000023.11:153870074:C:T Identity +NM_000140.5:c.639G>T NP_000131.2:p.Val213= NC_000018.10:57562939:C:A p.(Val213=) NC_000018.10:57562939:C:A p.(Val213=) NC_000018.10:57562939:C:A Identity +NM_007227.3:c.150G>C NP_009158.3:p.Leu50= NC_000002.12:105242007:G:C p.(Leu50=) NC_000002.12:105242007:G:C p.(Leu50=) NC_000002.12:105242007:G:C Identity +NM_001317090.2:c.564G>A NP_001304019.1:p.Thr188= NC_000011.10:64297555:G:A p.(Thr188=) NC_000011.10:64297555:G:A p.(Thr188=) NC_000011.10:64297555:G:A Identity +NM_001330360.2:c.897C>T NP_001317289.1:p.Thr299= NC_000023.11:24717479:C:T p.(Thr299=) NC_000023.11:24717479:C:T p.(Thr299=) NC_000023.11:24717479:C:T Identity +NM_001371986.1:c.753A>G NP_001358915.1:p.Gln251= NC_000002.12:209789559:A:G p.(Gln251=) NC_000002.12:209789559:A:G p.(Gln251=) NC_000002.12:209789559:A:G Identity +NM_001256850.1:c.77202G>A NP_001243779.1:p.Gly25734= NC_000002.12:178564006:C:T p.(Gly25734=) NC_000002.12:178564006:C:T p.(Gly25734=) NC_000002.12:178564006:C:T Identity +NM_000426.4:c.24C>T NP_000417.3:p.Leu8= NC_000006.12:128883268:C:T p.(Leu8=) NC_000006.12:128883268:C:T p.(Leu8=) NC_000006.12:128883268:C:T Identity +NM_031407.7:c.843G>A NP_113584.3:p.Leu281= NC_000023.11:53630953:C:T p.(Leu281=) NC_000023.11:53630953:C:T p.(Leu281=) NC_000023.11:53630953:C:T Identity +NM_018706.7:c.909C>T NP_061176.4:p.Gly303= NC_000010.11:12089176:C:T p.(Gly303=) NC_000010.11:12089176:C:T p.(Gly303=) NC_000010.11:12089176:C:T Identity +NM_007055.4:c.2157C>T NP_008986.2:p.Ala719= NC_000010.11:78004805:G:A p.(Ala719=) NC_000010.11:78004805:G:A p.(Ala719=) NC_000010.11:78004805:G:A Identity +NM_005914.4:c.1362G>A NP_005905.2:p.Arg454= NC_000008.11:47969984:G:A p.(Arg454=) NC_000008.11:47969984:G:A p.(Arg454=) NC_000008.11:47969984:G:A Identity +NM_000540.3:c.13632A>G NP_000531.2:p.Glu4544= NC_000019.10:38567889:A:G p.(Glu4544=) NC_000019.10:38567889:A:G p.(Glu4544=) NC_000019.10:38567889:A:G Identity +NM_001305005.3:c.1023T>C NP_001291934.1:p.Ser341= NC_000002.12:108008591:T:C p.(Ser341=) NC_000002.12:108008591:T:C p.(Ser341=) NC_000002.12:108008591:T:C Identity +NM_015909.4:c.2063_2066del NP_056993.2:p.Lys687_Leu688insTer NC_000002.12:15467359:AATAA:A p.(Leu688Ter) NC_000002.12:15467359:AATAA:A p.(Leu688Ter) NC_000002.12:15467359:AATA: Analogous +NM_001100913.3:c.2163C>T NP_001094383.2:p.Ser721= NC_000014.9:105391673:C:T p.(Ser721=) NC_000014.9:105391673:C:T p.(Ser721=) NC_000014.9:105391673:C:T Identity +NM_001098209.2:c.2010C>T NP_001091679.1:p.Tyr670= NC_000003.12:41236642:C:T p.(Tyr670=) NC_000003.12:41236642:C:T p.(Tyr670=) NC_000003.12:41236642:C:T Identity +NM_199002.2:c.36G>A NP_945353.1:p.Glu12= NC_000019.10:41888072:G:A p.(Glu12=) NC_000019.10:41888072:G:A p.(Glu12=) NC_000019.10:41888072:G:A Identity +NM_001128617.3:c.1938A>G NP_001122089.1:p.Thr646= NC_000006.12:138911323:T:C p.(Thr646=) NC_000006.12:138911323:T:C p.(Thr646=) NC_000006.12:138911323:T:C Identity +NM_000532.5:c.1584A>G NP_000523.2:p.Gln528= NC_000003.12:136329989:A:G p.(Gln528=) NC_000003.12:136329989:A:G p.(Gln528=) NC_000003.12:136329989:A:G Identity +NM_001283009.2:c.2535G>C NP_001269938.1:p.Ala845= NC_000020.11:63690925:G:C p.(Ala845=) NC_000020.11:63690925:G:C p.(Ala845=) NC_000020.11:63690925:G:C Identity +NM_001369614.1:c.912G>C NP_001356543.1:p.Ser304= NC_000017.11:38735345:C:G p.(Ser304=) NC_000017.11:38735345:C:G p.(Ser304=) NC_000017.11:38735345:C:G Identity +NM_001171.6:c.2166G>A NP_001162.5:p.Leu722= NC_000016.10:16182492:C:T p.(Leu722=) NC_000016.10:16182492:C:T p.(Leu722=) NC_000016.10:16182492:C:T Identity +NM_000521.4:c.822G>C NP_000512.2:p.Val274= NC_000005.10:74713555:G:C p.(Val274=) NC_000005.10:74713555:G:C p.(Val274=) NC_000005.10:74713555:G:C Identity +NM_002246.3:c.972C>T NP_002237.1:p.Ser324= NC_000002.12:26728354:C:T p.(Ser324=) NC_000002.12:26728354:C:T p.(Ser324=) NC_000002.12:26728354:C:T Identity +NM_000151.4:c.93C>T NP_000142.2:p.Ile31= NC_000017.11:42900968:C:T p.(Ile31=) NC_000017.11:42900968:C:T p.(Ile31=) NC_000017.11:42900968:C:T Identity +NM_000478.6:c.384G>C NP_000469.3:p.Val128= NC_000001.11:21563195:G:C p.(Val128=) NC_000001.11:21563195:G:C p.(Val128=) NC_000001.11:21563195:G:C Identity +NM_015346.4:c.1179C>G NP_056161.2:p.Thr393= NC_000014.9:67805456:G:C p.(Thr393=) NC_000014.9:67805456:G:C p.(Thr393=) NC_000014.9:67805456:G:C Identity +NM_000663.5:c.444C>G NP_000654.2:p.Leu148= NC_000016.10:8764145:C:G p.(Leu148=) NC_000016.10:8764145:C:G p.(Leu148=) NC_000016.10:8764145:C:G Identity +NM_001352385.2:c.1272T>C NP_001339314.1:p.Asp424= NC_000020.11:45025096:T:C p.(Asp424=) NC_000020.11:45025096:T:C p.(Asp424=) NC_000020.11:45025096:T:C Identity +NM_006208.3:c.2740T>C NP_006199.2:p.Leu914= NC_000006.12:131890472:T:C p.(Leu914=) NC_000006.12:131890472:T:C p.(Leu914=) NC_000006.12:131890472:T:C Identity +NM_001128227.3:c.2031A>T NP_001121699.1:p.Gly677= NC_000009.12:36217595:T:A p.(Gly677=) NC_000009.12:36217595:T:A p.(Gly677=) NC_000009.12:36217595:T:A Identity +NM_001170629.2:c.6717C>T NP_001164100.1:p.Phe2239= NC_000014.9:21392560:G:A p.(Phe2239=) NC_000014.9:21392560:G:A p.(Phe2239=) NC_000014.9:21392560:G:A Identity +NM_002872.5:c.378C>T NP_002863.1:p.Ile126= NC_000022.11:37231300:G:A p.(Ile126=) NC_000022.11:37231300:G:A p.(Ile126=) NC_000022.11:37231300:G:A Identity +NM_001146289.2:c.1701G>A NP_001139761.1:p.Val567= NC_000001.11:42750204:C:T p.(Val567=) NC_000001.11:42750204:C:T p.(Val567=) NC_000001.11:42750204:C:T Identity +NM_001289155.2:c.465G>A NP_001276084.1:p.Glu155= NC_000015.10:74892779:G:A p.(Glu155=) NC_000015.10:74892779:G:A p.(Glu155=) NC_000015.10:74892779:G:A Identity +NM_000028.3:c.111A>G NP_000019.2:p.Pro37= NC_000001.11:99861530:A:G p.(Pro37=) NC_000001.11:99861530:A:G p.(Pro37=) NC_000001.11:99861530:A:G Identity +NM_153006.3:c.114G>A NP_694551.1:p.Arg38= NC_000017.11:44004776:G:A p.(Arg38=) NC_000017.11:44004776:G:A p.(Arg38=) NC_000017.11:44004776:G:A Identity +NM_001113755.3:c.789G>T NP_001107227.1:p.Gly263= NC_000022.11:50526714:C:A p.(Gly263=) NC_000022.11:50526714:C:A p.(Gly263=) NC_000022.11:50526714:C:A Identity +NM_000834.5:c.1143C>T NP_000825.2:p.Asp381= NC_000012.12:13616639:G:A p.(Asp381=) NC_000012.12:13616639:G:A p.(Asp381=) NC_000012.12:13616639:G:A Identity +NM_001305878.2:c.318A>G NP_001292807.1:p.Ala106= NC_000008.11:42048659:T:C p.(Ala106=) NC_000008.11:42048659:T:C p.(Ala106=) NC_000008.11:42048659:T:C Identity +NM_001378464.1:c.3844C>A NP_001365393.1:p.Arg1282= NC_000015.10:51499139:G:T p.(Arg1282=) NC_000015.10:51499139:G:T p.(Arg1282=) NC_000015.10:51499139:G:T Identity +NM_000409.5:c.228C>T NP_000400.2:p.Tyr76= NC_000006.12:42178305:C:T p.(Tyr76=) NC_000006.12:42178305:C:T p.(Tyr76=) NC_000006.12:42178305:C:T Identity +NM_004211.5:c.123C>A NP_004202.4:p.Pro41= NC_000011.10:20601247:C:A p.(Pro41=) NC_000011.10:20601247:C:A p.(Pro41=) NC_000011.10:20601247:C:A Identity +NM_001005862.3:c.1539A>G NP_001005862.1:p.Glu513= NC_000017.11:39716415:A:G p.(Glu513=) NC_000017.11:39716415:A:G p.(Glu513=) NC_000017.11:39716415:A:G Identity +NM_001410755.1:c.2709C>T NP_001397684.1:p.Ala903= NC_000001.11:15732492:C:T p.(Ala903=) NC_000001.11:15732492:C:T p.(Ala903=) NC_000001.11:15732492:C:T Identity +NM_001127207.2:c.2391C>T NP_001120679.1:p.Asp797= NC_000002.12:216475414:C:T p.(Asp797=) NC_000002.12:216475414:C:T p.(Asp797=) NC_000002.12:216475414:C:T Identity +NM_000540.3:c.5820C>T NP_000531.2:p.Cys1940= NC_000019.10:38490080:C:T p.(Cys1940=) NC_000019.10:38490080:C:T p.(Cys1940=) NC_000019.10:38490080:C:T Identity +NM_015139.3:c.255A>G NP_055954.1:p.Ala85= NC_000001.11:67052839:T:C p.(Ala85=) NC_000001.11:67052839:T:C p.(Ala85=) NC_000001.11:67052839:T:C Identity +NM_001308122.2:c.1638C>T NP_001295051.1:p.Asp546= NC_000005.10:132393790:C:T p.(Asp546=) NC_000005.10:132393790:C:T p.(Asp546=) NC_000005.10:132393790:C:T Identity +NM_001305878.2:c.1824C>T NP_001292807.1:p.Tyr608= NC_000008.11:41947828:G:A p.(Tyr608=) NC_000008.11:41947828:G:A p.(Tyr608=) NC_000008.11:41947828:G:A Identity +NM_001411067.1:c.1812A>G NP_001397996.1:p.Pro604= NC_000017.11:8234460:T:C p.(Pro604=) NC_000017.11:8234460:T:C p.(Pro604=) NC_000017.11:8234460:T:C Identity +NM_001282352.2:c.486C>A NP_001269281.1:p.Gly162= NC_000019.10:8589460:G:T p.(Gly162=) NC_000019.10:8589460:G:T p.(Gly162=) NC_000019.10:8589460:G:T Identity +NM_001382777.1:c.450T>C NP_001369706.1:p.Tyr150= NC_000002.12:9517981:A:G p.(Tyr150=) NC_000002.12:9517981:A:G p.(Tyr150=) NC_000002.12:9517981:A:G Identity +NM_022835.3:c.3849C>T NP_073746.2:p.Ala1283= NC_000019.10:39424981:C:T p.(Ala1283=) NC_000019.10:39424981:C:T p.(Ala1283=) NC_000019.10:39424981:C:T Identity +NM_001167579.2:c.12C>T NP_001161051.1:p.Tyr4= NC_000005.10:177385752:C:T p.(Tyr4=) NC_000005.10:177385752:C:T p.(Tyr4=) NC_000005.10:177385752:C:T Identity +NM_007123.6:c.3582A>G NP_009054.6:p.Pro1194= NC_000001.11:216199855:T:C p.(Pro1194=) NC_000001.11:216199855:T:C p.(Pro1194=) NC_000001.11:216199855:T:C Identity +NM_001114331.3:c.460C>T NP_001107803.1:p.Leu154= NC_000016.10:1460479:G:A p.(Leu154=) NC_000016.10:1460479:G:A p.(Leu154=) NC_000016.10:1460479:G:A Identity +NM_001323956.2:c.873C>T NP_001310885.1:p.Asp291= NC_000020.11:429024:C:T p.(Asp291=) NC_000020.11:429024:C:T p.(Asp291=) NC_000020.11:429024:C:T Identity +NM_001122834.4:c.168C>T NP_001116306.1:p.Thr56= NC_000001.11:210387475:C:T p.(Thr56=) NC_000001.11:210387475:C:T p.(Thr56=) NC_000001.11:210387475:C:T Identity +NM_001292034.3:c.1500C>T NP_001278963.1:p.Thr500= NC_000006.12:149379414:C:T p.(Thr500=) NC_000006.12:149379414:C:T p.(Thr500=) NC_000006.12:149379414:C:T Identity +NM_001371986.1:c.9663T>C NP_001358915.1:p.Ser3221= NC_000002.12:209994218:T:C p.(Ser3221=) NC_000002.12:209994218:T:C p.(Ser3221=) NC_000002.12:209994218:T:C Identity +NM_001282237.2:c.1821G>A NP_001269166.1:p.Pro607= NC_000014.9:99175011:C:T p.(Pro607=) NC_000014.9:99175011:C:T p.(Pro607=) NC_000014.9:99175011:C:T Identity +NM_001195248.2:c.900T>A NP_001182177.2:p.Ala300= NC_000009.12:32973626:A:T p.(Ala300=) NC_000009.12:32973626:A:T p.(Ala300=) NC_000009.12:32973626:A:T Identity +NM_000491.5:c.147C>T NP_000482.3:p.Pro49= NC_000001.11:22659602:C:T p.(Pro49=) NC_000001.11:22659602:C:T p.(Pro49=) NC_000001.11:22659602:C:T Identity +NM_001042437.2:c.597A>G NP_001035902.1:p.Leu199= NC_000002.12:85846559:T:C p.(Leu199=) NC_000002.12:85846559:T:C p.(Leu199=) NC_000002.12:85846559:T:C Identity +NM_005708.5:c.606C>T NP_005699.1:p.Asp202= NC_000013.11:93830439:C:T p.(Asp202=) NC_000013.11:93830439:C:T p.(Asp202=) NC_000013.11:93830439:C:T Identity +NM_001080124.2:c.1026T>A NP_001073593.1:p.Ile342= NC_000002.12:201285083:T:A p.(Ile342=) NC_000002.12:201285083:T:A p.(Ile342=) NC_000002.12:201285083:T:A Identity +NM_000828.5:c.42G>A NP_000819.4:p.Ala14= NC_000023.11:123184576:G:A p.(Ala14=) NC_000023.11:123184576:G:A p.(Ala14=) NC_000023.11:123184576:G:A Identity +NM_000487.6:c.1327C>T NP_000478.3:p.Leu443= NC_000022.11:50625347:G:A p.(Leu443=) NC_000022.11:50625347:G:A p.(Leu443=) NC_000022.11:50625347:G:A Identity +NM_001291415.2:c.2301C>T NP_001278344.1:p.Thr767= NC_000023.11:45069799:C:T p.(Thr767=) NC_000023.11:45069799:C:T p.(Thr767=) NC_000023.11:45069799:C:T Identity +NM_016247.4:c.312T>C NP_057331.2:p.His104= NC_000003.12:101319605:A:G p.(His104=) NC_000003.12:101319605:A:G p.(His104=) NC_000003.12:101319605:A:G Identity +NM_001134477.3:c.1590T>C NP_001127949.1:p.Leu530= NC_000016.10:14446978:A:G p.(Leu530=) NC_000016.10:14446978:A:G p.(Leu530=) NC_000016.10:14446978:A:G Identity +NM_001146158.2:c.2151C>T NP_001139630.1:p.His717= NC_000002.12:74461319:G:A p.(His717=) NC_000002.12:74461319:G:A p.(His717=) NC_000002.12:74461319:G:A Identity +NM_001166110.2:c.171G>A NP_001159582.1:p.Thr57= NC_000004.12:168878061:G:A p.(Thr57=) NC_000004.12:168878061:G:A p.(Thr57=) NC_000004.12:168878061:G:A Identity +NM_001144920.3:c.570T>C NP_001138392.1:p.Tyr190= NC_000007.14:139148229:T:C p.(Tyr190=) NC_000007.14:139148229:T:C p.(Tyr190=) NC_000007.14:139148229:T:C Identity +NM_021973.3:c.63CGC[6] NP_068808.1:p.Ala32_Ser33insAla NC_000004.12:173529212:GCGGCGGCGGCGGCGGC:GCGGCGGCGGCGGCGGCGGC p.(Ala32dup) NC_000004.12:173529226:G:GCGGCGGCGGCGGCGGCG ERR:Parse ERR:Parse Analogous +NM_000092.5:c.1242T>G NP_000083.3:p.Gly414= NC_000002.12:227094251:A:C p.(Gly414=) NC_000002.12:227094251:A:C p.(Gly414=) NC_000002.12:227094251:A:C Identity +NM_000920.4:c.1251C>T NP_000911.2:p.Val417= NC_000011.10:66863890:G:A p.(Val417=) NC_000011.10:66863890:G:A p.(Val417=) NC_000011.10:66863890:G:A Identity +NM_000091.5:c.3198A>G NP_000082.2:p.Pro1066= NC_000002.12:227290873:A:G p.(Pro1066=) NC_000002.12:227290873:A:G p.(Pro1066=) NC_000002.12:227290873:A:G Identity +NM_001029883.3:c.3453G>A NP_001025054.1:p.Glu1151= NC_000002.12:29070808:C:T p.(Glu1151=) NC_000002.12:29070808:C:T p.(Glu1151=) NC_000002.12:29070808:C:T Identity +NM_001379418.1:c.996C>G NP_001366347.1:p.Leu332= NC_000001.11:151343040:G:C p.(Leu332=) NC_000001.11:151343040:G:C p.(Leu332=) NC_000001.11:151343040:G:C Identity +NM_012448.4:c.2265G>A NP_036580.2:p.Gly755= NC_000017.11:42201836:C:T p.(Gly755=) NC_000017.11:42201836:C:T p.(Gly755=) NC_000017.11:42201836:C:T Identity +NM_001003841.3:c.942G>A NP_001003841.1:p.Ser314= NC_000005.10:1216611:G:A p.(Ser314=) NC_000005.10:1216611:G:A p.(Ser314=) NC_000005.10:1216611:G:A Identity +NM_000092.5:c.3465C>A NP_000083.3:p.Leu1155= NC_000002.12:227042187:G:T p.(Leu1155=) NC_000002.12:227042187:G:T p.(Leu1155=) NC_000002.12:227042187:G:T Identity +NM_153006.3:c.591C>T NP_694551.1:p.Ala197= NC_000017.11:44005800:C:T p.(Ala197=) NC_000017.11:44005800:C:T p.(Ala197=) NC_000017.11:44005800:C:T Identity +NM_001193333.3:c.672G>C NP_001180262.1:p.Val224= NC_000016.10:30187416:G:C p.(Val224=) NC_000016.10:30187416:G:C p.(Val224=) NC_000016.10:30187416:G:C Identity +NM_014918.5:c.2232C>T NP_055733.2:p.His744= NC_000015.10:101177564:G:A p.(His744=) NC_000015.10:101177564:G:A p.(His744=) NC_000015.10:101177564:G:A Identity +NM_001256269.2:c.276G>A NP_001243198.1:p.Glu92= NC_000016.10:29798677:G:A p.(Glu92=) NC_000016.10:29798677:G:A p.(Glu92=) NC_000016.10:29798677:G:A Identity +NM_001362884.2:c.1314C>T NP_001349813.1:p.Gly438= NC_000008.11:20250198:G:A p.(Gly438=) NC_000008.11:20250198:G:A p.(Gly438=) NC_000008.11:20250198:G:A Identity +NM_000701.8:c.870T>C NP_000692.2:p.His290= NC_000001.11:116389553:T:C p.(His290=) NC_000001.11:116389553:T:C p.(His290=) NC_000001.11:116389553:T:C Identity +NM_014625.4:c.597T>C NP_055440.1:p.Asn199= NC_000001.11:179557167:A:G p.(Asn199=) NC_000001.11:179557167:A:G p.(Asn199=) NC_000001.11:179557167:A:G Identity +NM_014252.4:c.73C>T NP_055067.1:p.Leu25= NC_000013.11:40799073:C:T p.(Leu25=) NC_000013.11:40799073:C:T p.(Leu25=) NC_000013.11:40799073:C:T Identity +NM_001005360.3:c.1329C>T NP_001005360.1:p.Thr443= NC_000019.10:10796192:C:T p.(Thr443=) NC_000019.10:10796192:C:T p.(Thr443=) NC_000019.10:10796192:C:T Identity +NM_052859.4:c.1608C>G NP_443091.1:p.Arg536= NC_000003.12:53091920:G:C p.(Arg536=) NC_000003.12:53091920:G:C p.(Arg536=) NC_000003.12:53091920:G:C Identity +NM_000701.8:c.1989C>T NP_000692.2:p.Cys663= NC_000001.11:116397902:C:T p.(Cys663=) NC_000001.11:116397902:C:T p.(Cys663=) NC_000001.11:116397902:C:T Identity +NM_007215.4:c.673C>A NP_009146.2:p.Arg225= NC_000017.11:64492910:G:T p.(Arg225=) NC_000017.11:64492910:G:T p.(Arg225=) NC_000017.11:64492910:G:T Identity +NM_000720.4:c.3516C>T NP_000711.1:p.Ile1172= NC_000003.12:53749408:C:T p.(Ile1172=) NC_000003.12:53749408:C:T p.(Ile1172=) NC_000003.12:53749408:C:T Identity +NM_001308093.3:c.151C>T NP_001295022.1:p.Leu51= NC_000008.11:11708462:C:T p.(Leu51=) NC_000008.11:11708462:C:T p.(Leu51=) NC_000008.11:11708462:C:T Identity +NM_207346.3:c.397C>T NP_997229.2:p.Leu133= NC_000017.11:75517583:C:T p.(Leu133=) NC_000017.11:75517583:C:T p.(Leu133=) NC_000017.11:75517583:C:T Identity +NM_001330437.2:c.279A>T NP_001317366.1:p.Gly93= NC_000012.12:112450458:A:T p.(Gly93=) NC_000012.12:112450458:A:T p.(Gly93=) NC_000012.12:112450458:A:T Identity +NM_014908.4:c.1140C>T NP_055723.1:p.Arg380= NC_000009.12:128946163:G:A p.(Arg380=) NC_000009.12:128946163:G:A p.(Arg380=) NC_000009.12:128946163:G:A Identity +NM_000340.2:c.576T>C NP_000331.1:p.His192= NC_000003.12:171007183:A:G p.(His192=) NC_000003.12:171007183:A:G p.(His192=) NC_000003.12:171007183:A:G Identity +NM_001130455.2:c.156A>G NP_001123927.1:p.Glu52= NC_000002.12:71481886:A:G p.(Glu52=) NC_000002.12:71481886:A:G p.(Glu52=) NC_000002.12:71481886:A:G Identity +NM_001377214.1:c.996T>C NP_001364143.1:p.His332= NC_000011.10:14878286:A:G p.(His332=) NC_000011.10:14878286:A:G p.(His332=) NC_000011.10:14878286:A:G Identity +NM_001130089.2:c.1693C>T NP_001123561.1:p.Leu565= NC_000016.10:75628654:G:A p.(Leu565=) NC_000016.10:75628654:G:A p.(Leu565=) NC_000016.10:75628654:G:A Identity +NM_000444.6:c.753G>A NP_000435.3:p.Lys251= NC_000023.11:22094002:G:A p.(Lys251=) NC_000023.11:22094002:G:A p.(Lys251=) NC_000023.11:22094002:G:A Identity +NM_006059.4:c.1548G>A NP_006050.3:p.Val516= NC_000009.12:131049047:G:A p.(Val516=) NC_000009.12:131049047:G:A p.(Val516=) NC_000009.12:131049047:G:A Identity +NM_001002019.3:c.282G>A NP_001002019.1:p.Arg94= NC_000012.12:131932236:G:A p.(Arg94=) NC_000012.12:131932236:G:A p.(Arg94=) NC_000012.12:131932236:G:A Identity +NM_001320252.2:c.243A>G NP_001307181.1:p.Leu81= NC_000001.11:170552059:A:G p.(Leu81=) NC_000001.11:170552059:A:G p.(Leu81=) NC_000001.11:170552059:A:G Identity +NM_001278055.2:c.9943C>T NP_001264984.1:p.Leu3315= NC_000013.11:23333491:G:A p.(Leu3315=) NC_000013.11:23333491:G:A p.(Leu3315=) NC_000013.11:23333491:G:A Identity +NM_006265.3:c.1895A>G NP_006256.1:p.Ter632= NC_000008.11:116847500:T:C p.(Ter632=) NC_000008.11:116847500:T:C p.(Ter632Ter) NC_000008.11:116847500:T:C Identity +NM_000215.4:c.744C>T NP_000206.2:p.Ala248= NC_000019.10:17842432:G:A p.(Ala248=) NC_000019.10:17842432:G:A p.(Ala248=) NC_000019.10:17842432:G:A Identity +NM_003680.4:c.945C>T NP_003671.1:p.Val315= NC_000001.11:32782500:G:A p.(Val315=) NC_000001.11:32782500:G:A p.(Val315=) NC_000001.11:32782500:G:A Identity +NM_001257096.2:c.230_238dup NP_001244025.1:p.Gly79_His80insArgProGly NC_000020.11:21705941:GCCCCGGCC:GCCCCGGCCGCCCCGGCC p.(Gly79_His80insArgProGly) NC_000020.11:21705941:GCCCCGGCC:GCCCCGGCCGCCCCGGCC p.(Gly79_His80insArgProGly) ERR:SPDI Identity +NM_024652.6:c.4032C>T NP_078928.3:p.Thr1344= NC_000015.10:101053397:C:T p.(Thr1344=) NC_000015.10:101053397:C:T p.(Thr1344=) NC_000015.10:101053397:C:T Identity +NM_001282424.3:c.1155C>T NP_001269353.2:p.Asp385= NC_000012.12:8854164:C:T p.(Asp385=) NC_000012.12:8854164:C:T p.(Asp385=) NC_000012.12:8854164:C:T Identity +NM_005112.5:c.297A>G NP_005103.2:p.Ala99= NC_000004.12:10088292:T:C p.(Ala99=) NC_000004.12:10088292:T:C p.(Ala99=) NC_000004.12:10088292:T:C Identity +NM_005045.4:c.7632A>G NP_005036.2:p.Gly2544= NC_000007.14:103522057:T:C p.(Gly2544=) NC_000007.14:103522057:T:C p.(Gly2544=) NC_000007.14:103522057:T:C Identity +NM_000059.4:c.4617G>A NP_000050.3:p.Leu1539= NC_000013.11:32338971:G:A p.(Leu1539=) NC_000013.11:32338971:G:A p.(Leu1539=) NC_000013.11:32338971:G:A Identity +NM_001385288.1:c.2382T>C NP_001372217.1:p.Asn794= NC_000004.12:54733098:T:C p.(Asn794=) NC_000004.12:54733098:T:C p.(Asn794=) NC_000004.12:54733098:T:C Identity +NM_001122769.3:c.387G>T NP_001116241.1:p.Leu129= NC_000006.12:79513544:C:A p.(Leu129=) NC_000006.12:79513544:C:A p.(Leu129=) NC_000006.12:79513544:C:A Identity +NM_015346.4:c.4911C>T NP_056161.2:p.His1637= NC_000014.9:67777621:G:A p.(His1637=) NC_000014.9:67777621:G:A p.(His1637=) NC_000014.9:67777621:G:A Identity +NM_001166136.2:c.2454C>G NP_001159608.1:p.Ala818= NC_000004.12:5618489:G:C p.(Ala818=) NC_000004.12:5618489:G:C p.(Ala818=) NC_000004.12:5618489:G:C Identity +NM_007123.6:c.3051C>G NP_009054.6:p.Val1017= NC_000001.11:216217492:G:C p.(Val1017=) NC_000001.11:216217492:G:C p.(Val1017=) NC_000001.11:216217492:G:C Identity +NM_001171933.1:c.390T>C NP_001165404.1:p.Phe130= NC_000010.11:71799165:T:C p.(Phe130=) NC_000010.11:71799165:T:C p.(Phe130=) NC_000010.11:71799165:T:C Identity +NM_000151.4:c.789G>A NP_000142.2:p.Lys263= NC_000017.11:42911140:G:A p.(Lys263=) NC_000017.11:42911140:G:A p.(Lys263=) NC_000017.11:42911140:G:A Identity +NM_005458.8:c.1863G>T NP_005449.5:p.Leu621= NC_000009.12:98362744:C:A p.(Leu621=) NC_000009.12:98362744:C:A p.(Leu621=) NC_000009.12:98362744:C:A Identity +NM_004525.3:c.9084A>G NP_004516.2:p.Leu3028= NC_000002.12:169188213:T:C p.(Leu3028=) NC_000002.12:169188213:T:C p.(Leu3028=) NC_000002.12:169188213:T:C Identity +NM_000284.4:c.966C>T NP_000275.1:p.Asp322= NC_000023.11:19358981:C:T p.(Asp322=) NC_000023.11:19358981:C:T p.(Asp322=) NC_000023.11:19358981:C:T Identity +NM_000079.4:c.795G>A NP_000070.1:p.Leu265= NC_000002.12:174750152:C:T p.(Leu265=) NC_000002.12:174750152:C:T p.(Leu265=) NC_000002.12:174750152:C:T Identity +NM_004821.3:c.447G>A NP_004812.1:p.Val149= NC_000005.10:154477561:C:T p.(Val149=) NC_000005.10:154477561:C:T p.(Val149=) NC_000005.10:154477561:C:T Identity +NM_001099679.2:c.756A>T NP_001093149.1:p.Ala252= NC_000009.12:116698497:A:T p.(Ala252=) NC_000009.12:116698497:A:T p.(Ala252=) NC_000009.12:116698497:A:T Identity +NM_001282933.2:c.1230C>G NP_001269862.1:p.Gly410= NC_000020.11:33766857:C:G p.(Gly410=) NC_000020.11:33766857:C:G p.(Gly410=) NC_000020.11:33766857:C:G Identity +NM_000124.4:c.27A>C NP_000115.1:p.Ser9= NC_000010.11:49532937:T:G p.(Ser9=) NC_000010.11:49532937:T:G p.(Ser9=) NC_000010.11:49532937:T:G Identity +NM_000195.5:c.36G>A NP_000186.2:p.Glu12= NC_000010.11:98443204:C:T p.(Glu12=) NC_000010.11:98443204:C:T p.(Glu12=) NC_000010.11:98443204:C:T Identity +NM_001354900.2:c.6381A>G NP_001341829.1:p.Leu2127= NC_000005.10:112842097:A:G p.(Leu2127=) NC_000005.10:112842097:A:G p.(Leu2127=) NC_000005.10:112842097:A:G Identity +LRG_57t1:c.243G>A LRG_57p1:p.Arg81= NC_000019.10:853279:G:A ERR:Data provider error: ValueError: Transcript LRG_57t1 not found ERR:Data provider error: ValueError: Transcript LRG_57t1 not found ERR:AlignmentMapper(tx_ac=LRG_57t1, alt_ac=LRG_57t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_57t1, alt_ac=LRG_57t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_57t1 not found +NM_001122670.2:c.1092T>C NP_001116142.1:p.Asn364= NC_000023.11:72653479:A:G p.(Asn364=) NC_000023.11:72653479:A:G p.(Asn364=) NC_000023.11:72653479:A:G Identity +NM_001081.4:c.6201G>A NP_001072.2:p.Glu2067= NC_000010.11:16928226:C:T p.(Glu2067=) NC_000010.11:16928226:C:T p.(Glu2067=) NC_000010.11:16928226:C:T Identity +NM_001256850.1:c.36228A>C NP_001243779.1:p.Thr12076= NC_000002.12:178636575:T:G p.(Thr12076=) NC_000002.12:178636575:T:G p.(Thr12076=) NC_000002.12:178636575:T:G Identity +NM_080679.3:c.1458T>C NP_542410.2:p.Asp486= NC_000006.12:33178346:A:G p.(Asp486=) NC_000006.12:33178346:A:G p.(Asp486=) NC_000006.12:33178346:A:G Identity +NM_012327.6:c.666A>G NP_036459.1:p.Pro222= NC_000018.10:62148221:T:C p.(Pro222=) NC_000018.10:62148221:T:C p.(Pro222=) NC_000018.10:62148221:T:C Identity +NM_001363850.1:c.1116G>C NP_001350779.1:p.Ala372= NC_000016.10:89532031:G:C p.(Ala372=) NC_000016.10:89532031:G:C p.(Ala372=) NC_000016.10:89532031:G:C Identity +NM_017613.4:c.885A>G NP_060083.1:p.Ala295= NC_000021.9:33583566:T:C p.(Ala295=) NC_000021.9:33583566:T:C p.(Ala295=) NC_000021.9:33583566:T:C Identity +NM_172364.5:c.537C>T NP_758952.4:p.Asn179= NC_000012.12:1907986:G:A p.(Asn179=) NC_000012.12:1907986:G:A p.(Asn179=) NC_000012.12:1907986:G:A Identity +NM_001271620.2:c.2745C>G NP_001258549.1:p.Thr915= NC_000016.10:49636226:G:C p.(Thr915=) NC_000016.10:49636226:G:C p.(Thr915=) NC_000016.10:49636226:G:C Identity +NM_001164716.1:c.1473C>T NP_001158188.1:p.Leu491= NC_000011.10:64751954:G:A p.(Leu491=) NC_000011.10:64751954:G:A p.(Leu491=) NC_000011.10:64751954:G:A Identity +NM_001379500.1:c.1785C>T NP_001366429.1:p.Gly595= NC_000021.9:45486943:C:T p.(Gly595=) NC_000021.9:45486943:C:T p.(Gly595=) NC_000021.9:45486943:C:T Identity +NM_001288653.2:c.3096T>C NP_001275582.1:p.Leu1032= NC_000017.11:59681312:T:C p.(Leu1032=) NC_000017.11:59681312:T:C p.(Leu1032=) NC_000017.11:59681312:T:C Identity +NM_004304.5:c.1086T>C NP_004295.2:p.Ile362= NC_000002.12:29531982:A:G p.(Ile362=) NC_000002.12:29531982:A:G p.(Ile362=) NC_000002.12:29531982:A:G Identity +NM_000199.5:c.246C>G NP_000190.1:p.Pro82= NC_000017.11:80217034:G:C p.(Pro82=) NC_000017.11:80217034:G:C p.(Pro82=) NC_000017.11:80217034:G:C Identity +NM_001346897.2:c.2292T>A NP_001333826.1:p.Ile764= NC_000007.14:55181435:T:A p.(Ile764=) NC_000007.14:55181435:T:A p.(Ile764=) NC_000007.14:55181435:T:A Identity +NM_182493.3:c.280C>T NP_872299.2:p.Leu94= NC_000016.10:46747913:G:A p.(Leu94=) NC_000016.10:46747913:G:A p.(Leu94=) NC_000016.10:46747913:G:A Identity +NM_198506.5:c.672G>A NP_940908.3:p.Val224= NC_000004.12:109867722:G:A p.(Val224=) NC_000004.12:109867722:G:A p.(Val224=) NC_000004.12:109867722:G:A Identity +NM_001130955.2:c.1251G>A NP_001124427.2:p.Gly417= NC_000019.10:7453587:G:A p.(Gly417=) NC_000019.10:7453587:G:A p.(Gly417=) NC_000019.10:7453587:G:A Identity +NM_001142281.2:c.177C>T NP_001135753.1:p.Val59= NC_000011.10:118583351:C:T p.(Val59=) NC_000011.10:118583351:C:T p.(Val59=) NC_000011.10:118583351:C:T Identity +NM_001080414.4:c.2316G>A NP_001073883.2:p.Gln772= NC_000014.9:91313499:C:T p.(Gln772=) NC_000014.9:91313499:C:T p.(Gln772=) NC_000014.9:91313499:C:T Identity +NM_000065.5:c.1797A>G NP_000056.2:p.Lys599= NC_000005.10:41159140:T:C p.(Lys599=) NC_000005.10:41159140:T:C p.(Lys599=) NC_000005.10:41159140:T:C Identity +NM_001321961.2:c.1257C>G NP_001308890.1:p.Pro419= NC_000008.11:132572389:G:C p.(Pro419=) NC_000008.11:132572389:G:C p.(Pro419=) NC_000008.11:132572389:G:C Identity +NM_001317184.2:c.2142C>A NP_001304113.1:p.Gly714= NC_000016.10:68829682:C:A p.(Gly714=) NC_000016.10:68829682:C:A p.(Gly714=) NC_000016.10:68829682:C:A Identity +NM_001849.4:c.2148G>A NP_001840.3:p.Lys716= NC_000021.9:46125962:G:A p.(Lys716=) NC_000021.9:46125962:G:A p.(Lys716=) NC_000021.9:46125962:G:A Identity +NM_000414.4:c.258C>T NP_000405.1:p.Ala86= NC_000005.10:119474437:C:T p.(Ala86=) NC_000005.10:119474437:C:T p.(Ala86=) NC_000005.10:119474437:C:T Identity +NM_000489.6:c.5289T>C NP_000480.3:p.Asn1763= NC_000023.11:77618964:A:G p.(Asn1763=) NC_000023.11:77618964:A:G p.(Asn1763=) NC_000023.11:77618964:A:G Identity +NM_052859.4:c.18G>T NP_443091.1:p.Val6= NC_000003.12:53130382:C:A p.(Val6=) NC_000003.12:53130382:C:A p.(Val6=) NC_000003.12:53130382:C:A Identity +NM_000051.4:c.4698T>C NP_000042.3:p.Pro1566= NC_000011.10:108293398:T:C p.(Pro1566=) NC_000011.10:108293398:T:C p.(Pro1566=) NC_000011.10:108293398:T:C Identity +NM_001142763.2:c.1014T>C NP_001136235.1:p.Asp338= NC_000010.11:54214034:A:G p.(Asp338=) NC_000010.11:54214034:A:G p.(Asp338=) NC_000010.11:54214034:A:G Identity +NM_001037537.2:c.435G>A NP_001032626.1:p.Arg145= NC_000010.11:13283782:C:T p.(Arg145=) NC_000010.11:13283782:C:T p.(Arg145=) NC_000010.11:13283782:C:T Identity +NM_002471.4:c.2184C>T NP_002462.2:p.Asn728= NC_000014.9:23396801:G:A p.(Asn728=) NC_000014.9:23396801:G:A p.(Asn728=) NC_000014.9:23396801:G:A Identity +NM_001256820.2:c.243T>C NP_001243749.1:p.Leu81= NC_000001.11:155904388:A:G p.(Leu81=) NC_000001.11:155904388:A:G p.(Leu81=) NC_000001.11:155904388:A:G Identity +NM_000832.7:c.516G>A NP_000823.4:p.Glu172= NC_000009.12:137145847:G:A p.(Glu172=) NC_000009.12:137145847:G:A p.(Glu172=) NC_000009.12:137145847:G:A Identity +NM_001098511.3:c.2178A>G NP_001091981.1:p.Leu726= NC_000005.10:62385511:A:G p.(Leu726=) NC_000005.10:62385511:A:G p.(Leu726=) NC_000005.10:62385511:A:G Identity +NM_032444.4:c.40T>C NP_115820.2:p.Leu14= NC_000016.10:3608924:A:G p.(Leu14=) NC_000016.10:3608924:A:G p.(Leu14=) NC_000016.10:3608924:A:G Identity +NM_001366624.2:c.114T>A NP_001353553.1:p.Val38= NC_000013.11:76992211:T:A p.(Val38=) NC_000013.11:76992211:T:A p.(Val38=) NC_000013.11:76992211:T:A Identity +NM_000170.3:c.1536G>T NP_000161.2:p.Val512= NC_000009.12:6589238:C:A p.(Val512=) NC_000009.12:6589238:C:A p.(Val512=) NC_000009.12:6589238:C:A Identity +NM_001172631.3:c.3528C>A NP_001166102.1:p.Ala1176= NC_000014.9:102452514:C:A p.(Ala1176=) NC_000014.9:102452514:C:A p.(Ala1176=) NC_000014.9:102452514:C:A Identity +NM_020745.4:c.1587C>T NP_065796.2:p.Gly529= NC_000006.12:44304809:G:A p.(Gly529=) NC_000006.12:44304809:G:A p.(Gly529=) NC_000006.12:44304809:G:A Identity +NM_002764.4:c.270A>T NP_002755.1:p.Pro90= NC_000023.11:107639441:A:T p.(Pro90=) NC_000023.11:107639441:A:T p.(Pro90=) NC_000023.11:107639441:A:T Identity +NM_001384880.1:c.1770G>A NP_001371809.1:p.Gly590= NC_000002.12:190978898:C:T p.(Gly590=) NC_000002.12:190978898:C:T p.(Gly590=) NC_000002.12:190978898:C:T Identity +NM_001159508.3:c.6G>T NP_001152980.2:p.Ala2= NC_000015.10:40405832:G:T p.(Ala2=) NC_000015.10:40405832:G:T p.(Ala2=) NC_000015.10:40405832:G:T Identity +NM_001256849.1:c.2643_2648del NP_001243778.1:p.Val882_Ile883del NC_000019.10:50415514:TGGTCAT:T p.(Val882_Ile883del) NC_000019.10:50415514:TGGTCAT:T p.(Val882_Ile883del) NC_000019.10:50415515:GGTCAT: Identity +NM_001370534.1:c.1899G>A NP_001357463.1:p.Leu633= NC_000016.10:74628521:C:T p.(Leu633=) NC_000016.10:74628521:C:T p.(Leu633=) NC_000016.10:74628521:C:T Identity +NM_000243.3:c.525T>G NP_000234.1:p.Pro175= NC_000016.10:3254542:A:C p.(Pro175=) NC_000016.10:3254542:A:C p.(Pro175=) NC_000016.10:3254542:A:C Identity +NM_001037811.2:c.639C>T NP_001032900.1:p.Pro213= NC_000023.11:53431523:G:A p.(Pro213=) NC_000023.11:53431523:G:A p.(Pro213=) NC_000023.11:53431523:G:A Identity +NM_015180.6:c.13947C>T NP_055995.4:p.Leu4649= NC_000014.9:64128480:C:T p.(Leu4649=) NC_000014.9:64128480:C:T p.(Leu4649=) NC_000014.9:64128480:C:T Identity +NM_001411101.1:c.2278T>C NP_001398030.1:p.Leu760= NC_000017.11:82925006:T:C p.(Leu760=) NC_000017.11:82925006:T:C p.(Leu760=) NC_000017.11:82925006:T:C Identity +NM_000920.4:c.3312C>T NP_000911.2:p.Ala1104= NC_000011.10:66849123:G:A p.(Ala1104=) NC_000011.10:66849123:G:A p.(Ala1104=) NC_000011.10:66849123:G:A Identity +NM_000092.5:c.759T>A NP_000083.3:p.Ser253= NC_000002.12:227104028:A:T p.(Ser253=) NC_000002.12:227104028:A:T p.(Ser253=) NC_000002.12:227104028:A:T Identity +NM_000093.5:c.4566_4574del NP_000084.3:p.Ser1524_Pro1526del NC_000009.12:134822103:CTGGTCCTTCTGG:CTGG p.(Ser1524_Pro1526del) NC_000009.12:134822103:CTGGTCCTTCTGG:CTGG p.(Ser1524_Pro1526del) NC_000009.12:134822107:TCCTTCTGG: Identity +NM_024408.4:c.3897G>A NP_077719.2:p.Arg1299= NC_000001.11:119926606:C:T p.(Arg1299=) NC_000001.11:119926606:C:T p.(Arg1299=) NC_000001.11:119926606:C:T Identity +NM_001384474.1:c.495C>T NP_001371403.1:p.Pro165= NC_000018.10:46639631:G:A p.(Pro165=) NC_000018.10:46639631:G:A p.(Pro165=) NC_000018.10:46639631:G:A Identity +NM_000397.4:c.771C>T NP_000388.2:p.Cys257= NC_000023.11:37799050:C:T p.(Cys257=) NC_000023.11:37799050:C:T p.(Cys257=) NC_000023.11:37799050:C:T Identity +NM_001193465.2:c.1773C>G NP_001180394.1:p.Ala591= NC_000017.11:46066611:G:C p.(Ala591=) NC_000017.11:46066611:G:C p.(Ala591=) NC_000017.11:46066611:G:C Identity +NM_015909.4:c.4452T>C NP_056993.2:p.Phe1484= NC_000002.12:15328207:A:G p.(Phe1484=) NC_000002.12:15328207:A:G p.(Phe1484=) NC_000002.12:15328207:A:G Identity +NM_004863.4:c.525C>T NP_004854.1:p.Ser175= NC_000014.9:77576872:G:A p.(Ser175=) NC_000014.9:77576872:G:A p.(Ser175=) NC_000014.9:77576872:G:A Identity +NM_001354609.2:c.1731C>G NP_001341538.1:p.Leu577= NC_000007.14:140754196:G:C p.(Leu577=) NC_000007.14:140754196:G:C p.(Leu577=) NC_000007.14:140754196:G:C Identity +NM_000487.6:c.252G>C NP_000478.3:p.Pro84= NC_000022.11:50627378:C:G p.(Pro84=) NC_000022.11:50627378:C:G p.(Pro84=) NC_000022.11:50627378:C:G Identity +NM_139058.3:c.1314C>T NP_620689.1:p.Ala438= NC_000023.11:25007244:G:A p.(Ala438=) NC_000023.11:25007244:G:A p.(Ala438=) NC_000023.11:25007244:G:A Identity +NM_000263.4:c.1179C>T NP_000254.2:p.Arg393= NC_000017.11:42543184:C:T p.(Arg393=) NC_000017.11:42543184:C:T p.(Arg393=) NC_000017.11:42543184:C:T Identity +NM_001030311.3:c.6C>T NP_001025482.1:p.Pro2= NC_000002.12:181657000:G:A p.(Pro2=) NC_000002.12:181657000:G:A p.(Pro2=) NC_000002.12:181657000:G:A Identity +NM_000498.3:c.1390C>T NP_000489.3:p.Leu464= NC_000008.11:142912537:G:A p.(Leu464=) NC_000008.11:142912537:G:A p.(Leu464=) NC_000008.11:142912537:G:A Identity +NM_015102.5:c.549C>T NP_055917.1:p.Cys183= NC_000001.11:5961917:G:A p.(Cys183=) NC_000001.11:5961917:G:A p.(Cys183=) NC_000001.11:5961917:G:A Identity +NM_001354663.2:c.2394T>G NP_001341592.1:p.Gly798= NC_000003.12:193667224:T:G p.(Gly798=) NC_000003.12:193667224:T:G p.(Gly798=) NC_000003.12:193667224:T:G Identity +NM_000199.5:c.1440G>T NP_000190.1:p.Val480= NC_000017.11:80210520:C:A p.(Val480=) NC_000017.11:80210520:C:A p.(Val480=) NC_000017.11:80210520:C:A Identity +LRG_311t1:c.658C>T LRG_311p1:p.Leu220= NC_000010.11:87957875:C:T ERR:Data provider error: ValueError: Transcript LRG_311t1 not found ERR:Data provider error: ValueError: Transcript LRG_311t1 not found ERR:AlignmentMapper(tx_ac=LRG_311t1, alt_ac=LRG_311t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_311t1, alt_ac=LRG_311t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_311t1 not found +NM_001080463.2:c.1611T>C NP_001073932.1:p.Asp537= NC_000011.10:103122949:T:C p.(Asp537=) NC_000011.10:103122949:T:C p.(Asp537=) NC_000011.10:103122949:T:C Identity +NM_001123226.2:c.165C>G NP_001116698.1:p.Ala55= NC_000006.12:73462018:C:G p.(Ala55=) NC_000006.12:73462018:C:G p.(Ala55=) NC_000006.12:73462018:C:G Identity +NM_020461.4:c.3870A>T NP_065194.3:p.Thr1290= NC_000022.11:50220488:T:A p.(Thr1290=) NC_000022.11:50220488:T:A p.(Thr1290=) NC_000022.11:50220488:T:A Identity +NM_006662.3:c.5718A>G NP_006653.2:p.Gln1906= NC_000016.10:30729024:A:G p.(Gln1906=) NC_000016.10:30729024:A:G p.(Gln1906=) NC_000016.10:30729024:A:G Identity +NM_001004334.4:c.1431A>G NP_001004334.3:p.Arg477= NC_000017.11:38335246:T:C p.(Arg477=) NC_000017.11:38335246:T:C p.(Arg477=) NC_000017.11:38335246:T:C Identity +NM_005559.4:c.8652G>A NP_005550.2:p.Arg2884= NC_000018.10:6948460:C:T p.(Arg2884=) NC_000018.10:6948460:C:T p.(Arg2884=) NC_000018.10:6948460:C:T Identity +NM_001346754.2:c.600A>G NP_001333683.1:p.Thr200= NC_000017.11:36537700:A:G p.(Thr200=) NC_000017.11:36537700:A:G p.(Thr200=) NC_000017.11:36537700:A:G Identity +NM_006063.3:c.1095G>A NP_006054.2:p.Gln365= NC_000002.12:169510872:G:A p.(Gln365=) NC_000002.12:169510872:G:A p.(Gln365=) NC_000002.12:169510872:G:A Identity +NM_001099952.4:c.4845C>T NP_001093422.2:p.Leu1615= NC_000003.12:4710353:C:T p.(Leu1615=) NC_000003.12:4710353:C:T p.(Leu1615=) NC_000003.12:4710353:C:T Identity +NM_000118.4:c.119_133delGCGAGGTGACATATA NP_000109.1:p.Gly40_Thr45delinsAla NC_000009.12:127843179:TATATGTCACCTCGC: p.(Gly40_Thr45delinsAla) NC_000009.12:127843179:TATATGTCACCTCGC: p.(Gly40_Thr45delinsAla) NC_000009.12:127843179:TATATGTCACCTCGC: Identity +NM_007055.4:c.1146G>T NP_008986.2:p.Val382= NC_000010.11:78021584:C:A p.(Val382=) NC_000010.11:78021584:C:A p.(Val382=) NC_000010.11:78021584:C:A Identity +NM_001378454.1:c.5752T>C NP_001365383.1:p.Leu1918= NC_000002.12:73452278:T:C p.(Leu1918=) NC_000002.12:73452278:T:C p.(Leu1918=) NC_000002.12:73452278:T:C Identity +NM_001384158.1:c.693T>C NP_001371087.1:p.Cys231= NC_000014.9:91891269:A:G p.(Cys231=) NC_000014.9:91891269:A:G p.(Cys231=) NC_000014.9:91891269:A:G Identity +NM_001256850.1:c.72165A>G NP_001243779.1:p.Ala24055= NC_000002.12:178569043:T:C p.(Ala24055=) NC_000002.12:178569043:T:C p.(Ala24055=) NC_000002.12:178569043:T:C Identity +NM_000052.7:c.402G>C NP_000043.4:p.Val134= NC_000023.11:77988522:G:C p.(Val134=) NC_000023.11:77988522:G:C p.(Val134=) NC_000023.11:77988522:G:C Identity +NM_003906.5:c.4680C>T NP_003897.2:p.His1560= NC_000021.9:46245164:G:A p.(His1560=) NC_000021.9:46245164:G:A p.(His1560=) NC_000021.9:46245164:G:A Identity +NM_001318245.2:c.786C>T NP_001305174.1:p.Asp262= NC_000022.11:25768701:C:T p.(Asp262=) NC_000022.11:25768701:C:T p.(Asp262=) NC_000022.11:25768701:C:T Identity +NM_001384732.1:c.3943_3948del NP_001371661.1:p.Ser1315_Cys1316del NC_000005.10:37187545:ACAAGAA:A p.(Ser1315_Cys1316del) NC_000005.10:37187545:ACAAGAA:A p.(Ser1315_Cys1316del) NC_000005.10:37187545:ACAAGA: Identity +NM_020338.4:c.735C>T NP_065071.1:p.Pro245= NC_000010.11:79291152:C:T p.(Pro245=) NC_000010.11:79291152:C:T p.(Pro245=) NC_000010.11:79291152:C:T Identity +NM_000742.4:c.216C>T NP_000733.2:p.Arg72= NC_000008.11:27469838:G:A p.(Arg72=) NC_000008.11:27469838:G:A p.(Arg72=) NC_000008.11:27469838:G:A Identity +NM_000543.5:c.45C>T NP_000534.3:p.Ser15= NC_000011.10:6390642:C:T p.(Ser15=) NC_000011.10:6390642:C:T p.(Ser15=) NC_000011.10:6390642:C:T Identity +NM_001378226.1:c.297A>G NP_001365155.1:p.Gln99= NC_000001.11:119045644:T:C p.(Gln99=) NC_000001.11:119045644:T:C p.(Gln99=) NC_000001.11:119045644:T:C Identity +NM_005055.5:c.834G>A NP_005046.2:p.Glu278= NC_000011.10:47441688:C:T p.(Glu278=) NC_000011.10:47441688:C:T p.(Glu278=) NC_000011.10:47441688:C:T Identity +NM_002241.5:c.645A>G NP_002232.2:p.Gly215= NC_000001.11:160041887:T:C p.(Gly215=) NC_000001.11:160041887:T:C p.(Gly215=) NC_000001.11:160041887:T:C Identity +NM_001006600.3:c.927T>C NP_001006600.1:p.Asn309= NC_000005.10:66025883:T:C p.(Asn309=) NC_000005.10:66025883:T:C p.(Asn309=) NC_000005.10:66025883:T:C Identity +NM_020987.5:c.4779A>G NP_066267.2:p.Gln1593= NC_000010.11:60076101:T:C p.(Gln1593=) NC_000010.11:60076101:T:C p.(Gln1593=) NC_000010.11:60076101:T:C Identity +NM_017617.5:c.3042G>C NP_060087.3:p.Thr1014= NC_000009.12:136508998:C:G p.(Thr1014=) NC_000009.12:136508998:C:G p.(Thr1014=) NC_000009.12:136508998:C:G Identity +NM_003906.5:c.5373G>T NP_003897.2:p.Ser1791= NC_000021.9:46242854:C:A p.(Ser1791=) NC_000021.9:46242854:C:A p.(Ser1791=) NC_000021.9:46242854:C:A Identity +NM_001166136.2:c.3180C>T NP_001159608.1:p.Arg1060= NC_000004.12:5568580:G:A p.(Arg1060=) NC_000004.12:5568580:G:A p.(Arg1060=) NC_000004.12:5568580:G:A Identity +NM_005914.4:c.531G>C NP_005905.2:p.Leu177= NC_000008.11:47962792:G:C p.(Leu177=) NC_000008.11:47962792:G:C p.(Leu177=) NC_000008.11:47962792:G:C Identity +NM_001297764.2:c.855G>A NP_001284693.1:p.Leu285= NC_000011.10:17522890:C:T p.(Leu285=) NC_000011.10:17522890:C:T p.(Leu285=) NC_000011.10:17522890:C:T Identity +NM_000541.5:c.546G>A NP_000532.2:p.Gln182= NC_000002.12:233328510:G:A p.(Gln182=) NC_000002.12:233328510:G:A p.(Gln182=) NC_000002.12:233328510:G:A Identity +NM_000159.4:c.972C>A NP_000150.1:p.Val324= NC_000019.10:12897317:C:A p.(Val324=) NC_000019.10:12897317:C:A p.(Val324=) NC_000019.10:12897317:C:A Identity +NM_000717.5:c.309A>G NP_000708.1:p.Gly103= NC_000017.11:60157466:A:G p.(Gly103=) NC_000017.11:60157466:A:G p.(Gly103=) NC_000017.11:60157466:A:G Identity +NM_004501.3:c.2127C>A NP_004492.2:p.Gly709= NC_000001.11:244855591:G:T p.(Gly709=) NC_000001.11:244855591:G:T p.(Gly709=) NC_000001.11:244855591:G:T Identity +NM_007123.6:c.1728A>G NP_009054.6:p.Gln576= NC_000001.11:216292286:T:C p.(Gln576=) NC_000001.11:216292286:T:C p.(Gln576=) NC_000001.11:216292286:T:C Identity +NM_001134793.2:c.309A>G NP_001128265.1:p.Pro103= NC_000011.10:125899676:A:G p.(Pro103=) NC_000011.10:125899676:A:G p.(Pro103=) NC_000011.10:125899676:A:G Identity +NM_001163812.2:c.1662A>T NP_001157284.1:p.Thr554= NC_000010.11:100990937:A:T p.(Thr554=) NC_000010.11:100990937:A:T p.(Thr554=) NC_000010.11:100990937:A:T Identity +NM_000126.4:c.939T>C NP_000117.1:p.Tyr313= NC_000015.10:76225872:A:G p.(Tyr313=) NC_000015.10:76225872:A:G p.(Tyr313=) NC_000015.10:76225872:A:G Identity +NM_001142765.2:c.546A>T NP_001136237.1:p.Gly182= NC_000010.11:54346412:T:A p.(Gly182=) NC_000010.11:54346412:T:A p.(Gly182=) NC_000010.11:54346412:T:A Identity +NM_000086.2:c.166C>T NP_000077.1:p.Leu56= NC_000016.10:28489345:G:A p.(Leu56=) NC_000016.10:28489345:G:A p.(Leu56=) NC_000016.10:28489345:G:A Identity +NM_020247.5:c.430A>C NP_064632.2:p.Arg144= NC_000001.11:226965251:A:C p.(Arg144=) NC_000001.11:226965251:A:C p.(Arg144=) NC_000001.11:226965251:A:C Identity +NM_152383.5:c.2151C>G NP_689596.4:p.Ala717= NC_000002.12:232333979:C:G p.(Ala717=) NC_000002.12:232333979:C:G p.(Ala717=) NC_000002.12:232333979:C:G Identity +NM_003705.5:c.1611C>G NP_003696.2:p.Thr537= NC_000002.12:171787921:G:C p.(Thr537=) NC_000002.12:171787921:G:C p.(Thr537=) NC_000002.12:171787921:G:C Identity +NM_001130991.3:c.675C>T NP_001124463.1:p.Ala225= NC_000011.10:119054496:G:A p.(Ala225=) NC_000011.10:119054496:G:A p.(Ala225=) NC_000011.10:119054496:G:A Identity +NM_001194998.2:c.3168T>C NP_001181927.1:p.Asp1056= NC_000015.10:48756079:A:G p.(Asp1056=) NC_000015.10:48756079:A:G p.(Asp1056=) NC_000015.10:48756079:A:G Identity +NM_001130455.2:c.1443G>A NP_001123927.1:p.Leu481= NC_000002.12:71539198:G:A p.(Leu481=) NC_000002.12:71539198:G:A p.(Leu481=) NC_000002.12:71539198:G:A Identity +NM_001411087.1:c.1530C>T NP_001398016.1:p.Ser510= NC_000019.10:45037588:C:T p.(Ser510=) NC_000019.10:45037588:C:T p.(Ser510=) NC_000019.10:45037588:C:T Identity +NM_003630.3:c.1101C>A NP_003621.1:p.Thr367= NC_000006.12:143489204:C:A p.(Thr367=) NC_000006.12:143489204:C:A p.(Thr367=) NC_000006.12:143489204:C:A Identity +NM_032043.3:c.600A>G NP_114432.2:p.Glu200= NC_000017.11:61847127:T:C p.(Glu200=) NC_000017.11:61847127:T:C p.(Glu200=) NC_000017.11:61847127:T:C Identity +NM_207352.4:c.13_24dup NP_997235.3:p.Leu8_Val9insTrpLeuGlyLeu NC_000004.12:186191828:GGGGCTCTGGCTGGGGCTC:GGGGCTCTGGCTGGGGCTCTGGCTGGGGCTC p.(Trp5_Leu8dup) NC_000004.12:186191828:GGGGCTCTGGCTGGGGCTC:GGGGCTCTGGCTGGGGCTCTGGCTGGGGCTC p.(Trp5_Leu8dup) ERR:SPDI Analogous +NM_000045.4:c.30T>C NP_000036.2:p.Ile10= NC_000006.12:131573311:T:C p.(Ile10=) NC_000006.12:131573311:T:C p.(Ile10=) NC_000006.12:131573311:T:C Identity +NM_014014.5:c.4911C>T NP_054733.2:p.Ser1637= NC_000002.12:96283204:G:A p.(Ser1637=) NC_000002.12:96283204:G:A p.(Ser1637=) NC_000002.12:96283204:G:A Identity +NM_002772.3:c.1473G>A NP_002763.3:p.Ala491= NC_000021.9:18341503:C:T p.(Ala491=) NC_000021.9:18341503:C:T p.(Ala491=) NC_000021.9:18341503:C:T Identity +NM_001379352.1:c.663C>A NP_001366281.1:p.Thr221= NC_000001.11:146018694:G:T p.(Thr221=) NC_000001.11:146018694:G:T p.(Thr221=) NC_000001.11:146018694:G:T Identity +NM_001256850.1:c.58974A>G NP_001243779.1:p.Thr19658= NC_000002.12:178587313:T:C p.(Thr19658=) NC_000002.12:178587313:T:C p.(Thr19658=) NC_000002.12:178587313:T:C Identity +NM_017890.5:c.7071T>C NP_060360.3:p.Phe2357= NC_000008.11:99720992:T:C p.(Phe2357=) NC_000008.11:99720992:T:C p.(Phe2357=) NC_000008.11:99720992:T:C Identity +NM_000548.5:c.1827C>T NP_000539.2:p.Ser609= NC_000016.10:2070565:C:T p.(Ser609=) NC_000016.10:2070565:C:T p.(Ser609=) NC_000016.10:2070565:C:T Identity +NM_000260.4:c.6258C>T NP_000251.3:p.Asn2086= NC_000011.10:77211840:C:T p.(Asn2086=) NC_000011.10:77211840:C:T p.(Asn2086=) NC_000011.10:77211840:C:T Identity +NM_020223.4:c.468A>G NP_064608.2:p.Gly156= NC_000007.14:193666:A:G p.(Gly156=) NC_000007.14:193666:A:G p.(Gly156=) NC_000007.14:193666:A:G Identity +NM_001371986.1:c.7614G>A NP_001358915.1:p.Gly2538= NC_000002.12:209959515:G:A p.(Gly2538=) NC_000002.12:209959515:G:A p.(Gly2538=) NC_000002.12:209959515:G:A Identity +NM_001197104.2:c.2967C>A NP_001184033.1:p.Leu989= NC_000011.10:118474125:C:A p.(Leu989=) NC_000011.10:118474125:C:A p.(Leu989=) NC_000011.10:118474125:C:A Identity +NM_000718.4:c.1050G>A NP_000709.1:p.Leu350= NC_000009.12:137952356:G:A p.(Leu350=) NC_000009.12:137952356:G:A p.(Leu350=) NC_000009.12:137952356:G:A Identity +NM_005630.3:c.1476C>T NP_005621.2:p.Cys492= NC_000003.12:133942753:G:A p.(Cys492=) NC_000003.12:133942753:G:A p.(Cys492=) NC_000003.12:133942753:G:A Identity +NM_000721.4:c.4086G>A NP_000712.2:p.Leu1362= NC_000001.11:181756051:G:A p.(Leu1362=) NC_000001.11:181756051:G:A p.(Leu1362=) NC_000001.11:181756051:G:A Identity +NM_001258384.3:c.990C>G NP_001245313.1:p.Ser330= NC_000020.11:2659718:G:C p.(Ser330=) NC_000020.11:2659718:G:C p.(Ser330=) NC_000020.11:2659718:G:C Identity +NM_000094.4:c.4998G>A NP_000085.1:p.Arg1666= NC_000003.12:48580634:C:T p.(Arg1666=) NC_000003.12:48580634:C:T p.(Arg1666=) NC_000003.12:48580634:C:T Identity +NM_003742.4:c.3084A>T NP_003733.2:p.Ala1028= NC_000002.12:168932505:T:A p.(Ala1028=) NC_000002.12:168932505:T:A p.(Ala1028=) NC_000002.12:168932505:T:A Identity +NM_001297764.2:c.732C>A NP_001284693.1:p.Gly244= NC_000011.10:17524477:G:T p.(Gly244=) NC_000011.10:17524477:G:T p.(Gly244=) NC_000011.10:17524477:G:T Identity +NM_000411.8:c.1302A>G NP_000402.3:p.Pro434= NC_000021.9:36897008:T:C p.(Pro434=) NC_000021.9:36897008:T:C p.(Pro434=) NC_000021.9:36897008:T:C Identity +NM_001364440.2:c.936C>A NP_001351369.1:p.Ala312= NC_000005.10:7885732:C:A p.(Ala312=) NC_000005.10:7885732:C:A p.(Ala312=) NC_000005.10:7885732:C:A Identity +NM_001042437.2:c.732G>A NP_001035902.1:p.Lys244= NC_000002.12:85846424:C:T p.(Lys244=) NC_000002.12:85846424:C:T p.(Lys244=) NC_000002.12:85846424:C:T Identity +NM_001199.4:c.672A>G NP_001190.1:p.Glu224= NC_000008.11:22177080:A:G p.(Glu224=) NC_000008.11:22177080:A:G p.(Glu224=) NC_000008.11:22177080:A:G Identity +NM_002439.5:c.2523T>A NP_002430.3:p.Ala841= NC_000005.10:80787651:T:A p.(Ala841=) NC_000005.10:80787651:T:A p.(Ala841=) NC_000005.10:80787651:T:A Identity +NM_145200.5:c.87G>A NP_660201.1:p.Lys29= NC_000011.10:67455509:G:A p.(Lys29=) NC_000011.10:67455509:G:A p.(Lys29=) NC_000011.10:67455509:G:A Identity +NM_001127208.3:c.889GATGCTGAT[1] NP_001120680.1:p.297DAD[1] NC_000004.12:105234829:TGATGCTGATGATGCTGAT:TGATGCTGAT p.(Asp300_Asp302del) NC_000004.12:105234830:G:GATGCTGAT ERR:Parse ERR:Parse Analogous +NM_000092.5:c.1620A>G NP_000083.3:p.Leu540= NC_000002.12:227088655:T:C p.(Leu540=) NC_000002.12:227088655:T:C p.(Leu540=) NC_000002.12:227088655:T:C Identity +NM_000875.5:c.1281C>T NP_000866.1:p.Asn427= NC_000015.10:98908717:C:T p.(Asn427=) NC_000015.10:98908717:C:T p.(Asn427=) NC_000015.10:98908717:C:T Identity +NM_003901.4:c.1365C>T NP_003892.2:p.Ser455= NC_000010.11:70875467:C:T p.(Ser455=) NC_000010.11:70875467:C:T p.(Ser455=) NC_000010.11:70875467:C:T Identity +NM_000080.4:c.1092G>A NP_000071.1:p.Arg364= NC_000017.11:4899324:C:T p.(Arg364=) NC_000017.11:4899324:C:T p.(Arg364=) NC_000017.11:4899324:C:T Identity +NM_001164277.2:c.778del NP_001157749.1:p.Leu260_Val261insTer NC_000011.10:119026942:GGG:GG p.(Val261Ter) NC_000011.10:119026942:GGG:GG p.(Val261Ter) NC_000011.10:119026942:G: Analogous +NM_000282.4:c.441A>G NP_000273.2:p.Ser147= NC_000013.11:100157312:A:G p.(Ser147=) NC_000013.11:100157312:A:G p.(Ser147=) NC_000013.11:100157312:A:G Identity +NM_138694.4:c.99A>G NP_619639.3:p.Ala33= NC_000006.12:52083208:T:C p.(Ala33=) NC_000006.12:52083208:T:C p.(Ala33=) NC_000006.12:52083208:T:C Identity +NM_001308301.1:c.498C>T NP_001295230.1:p.Thr166= NC_000016.10:46730639:G:A p.(Thr166=) NC_000016.10:46730639:G:A p.(Thr166=) NC_000016.10:46730639:G:A Identity +NM_000426.4:c.7488C>G NP_000417.3:p.Leu2496= NC_000006.12:129478728:C:G p.(Leu2496=) NC_000006.12:129478728:C:G p.(Leu2496=) NC_000006.12:129478728:C:G Identity +NM_020778.5:c.4855C>T NP_065829.4:p.Leu1619= NC_000015.10:84868192:C:T p.(Leu1619=) NC_000015.10:84868192:C:T p.(Leu1619=) NC_000015.10:84868192:C:T Identity +NM_000091.5:c.1347A>G NP_000082.2:p.Gly449= NC_000002.12:227266447:A:G p.(Gly449=) NC_000002.12:227266447:A:G p.(Gly449=) NC_000002.12:227266447:A:G Identity +NM_000359.3:c.1827A>C NP_000350.1:p.Thr609= NC_000014.9:24255071:T:G p.(Thr609=) NC_000014.9:24255071:T:G p.(Thr609=) NC_000014.9:24255071:T:G Identity +NM_001146702.2:c.3535C>T NP_001140174.1:p.Leu1179= NC_000023.11:53194440:G:A p.(Leu1179=) NC_000023.11:53194440:G:A p.(Leu1179=) NC_000023.11:53194440:G:A Identity +NM_001164507.2:c.19443A>G NP_001157979.2:p.Ser6481= NC_000002.12:151554010:T:C p.(Ser6481=) NC_000002.12:151554010:T:C p.(Ser6481=) NC_000002.12:151554010:T:C Identity +NM_001328.3:c.36G>T NP_001319.1:p.Pro12= NC_000004.12:1248919:C:A p.(Pro12=) NC_000004.12:1248919:C:A p.(Pro12=) NC_000004.12:1248919:C:A Identity +NM_001379500.1:c.3474C>T NP_001366429.1:p.Ser1158= NC_000021.9:45509579:C:T p.(Ser1158=) NC_000021.9:45509579:C:T p.(Ser1158=) NC_000021.9:45509579:C:T Identity +NM_001256850.1:c.4446T>C NP_001243779.1:p.Gly1482= NC_000002.12:178777737:A:G p.(Gly1482=) NC_000002.12:178777737:A:G p.(Gly1482=) NC_000002.12:178777737:A:G Identity +NM_152393.4:c.1275C>G NP_689606.2:p.Gly425= NC_000003.12:42688263:C:G p.(Gly425=) NC_000003.12:42688263:C:G p.(Gly425=) NC_000003.12:42688263:C:G Identity +NM_001256850.1:c.27192T>C NP_001243779.1:p.Ser9064= NC_000002.12:178711092:A:G p.(Ser9064=) NC_000002.12:178711092:A:G p.(Ser9064=) NC_000002.12:178711092:A:G Identity +NM_021961.6:c.525T>C NP_068780.2:p.Phe175= NC_000011.10:12881907:T:C p.(Phe175=) NC_000011.10:12881907:T:C p.(Phe175=) NC_000011.10:12881907:T:C Identity +NM_001297778.1:c.691A>C NP_001284707.1:p.Arg231= NC_000001.11:9982551:A:C p.(Arg231=) NC_000001.11:9982551:A:C p.(Arg231=) NC_000001.11:9982551:A:C Identity +NM_014639.4:c.1389A>G NP_055454.1:p.Thr463= NC_000005.10:95524527:T:C p.(Thr463=) NC_000005.10:95524527:T:C p.(Thr463=) NC_000005.10:95524527:T:C Identity +NM_001256182.2:c.44_46dup NP_001243111.1:p.Leu15_Pro16insLeu NC_000016.10:89316973:GAAG:GAAGAAG p.(Leu15dup) NC_000016.10:89316973:GAAG:GAAGAAG p.(Leu15dup) ERR:SPDI Analogous +NM_001354705.2:c.2655C>T NP_001341634.1:p.Ser885= NC_000012.12:57581881:C:T p.(Ser885=) NC_000012.12:57581881:C:T p.(Ser885=) NC_000012.12:57581881:C:T Identity +NM_001367624.2:c.3093C>T NP_001354553.1:p.Pro1031= NC_000016.10:88430562:C:T p.(Pro1031=) NC_000016.10:88430562:C:T p.(Pro1031=) NC_000016.10:88430562:C:T Identity +NM_003620.4:c.1185G>C NP_003611.1:p.Leu395= NC_000017.11:60656765:G:C p.(Leu395=) NC_000017.11:60656765:G:C p.(Leu395=) NC_000017.11:60656765:G:C Identity +NM_001170629.2:c.1320G>C NP_001164100.1:p.Ser440= NC_000014.9:21428149:C:G p.(Ser440=) NC_000014.9:21428149:C:G p.(Ser440=) NC_000014.9:21428149:C:G Identity +NM_001193333.3:c.352C>T NP_001180262.1:p.Leu118= NC_000016.10:30186845:C:T p.(Leu118=) NC_000016.10:30186845:C:T p.(Leu118=) NC_000016.10:30186845:C:T Identity +NM_001205319.1:c.525G>T NP_001192248.1:p.Pro175= NC_000017.11:805218:C:A p.(Pro175=) NC_000017.11:805218:C:A p.(Pro175=) NC_000017.11:805218:C:A Identity +NM_015192.4:c.3180C>T NP_056007.1:p.Ile1060= NC_000020.11:8788516:C:T p.(Ile1060=) NC_000020.11:8788516:C:T p.(Ile1060=) NC_000020.11:8788516:C:T Identity +NM_000172.4:c.639C>T NP_000163.2:p.Gly213= NC_000003.12:50194151:C:T p.(Gly213=) NC_000003.12:50194151:C:T p.(Gly213=) NC_000003.12:50194151:C:T Identity +NM_001127671.2:c.465A>C NP_001121143.1:p.Leu155= NC_000005.10:38523514:T:G p.(Leu155=) NC_000005.10:38523514:T:G p.(Leu155=) NC_000005.10:38523514:T:G Identity +NM_001033855.3:c.1674T>C NP_001029027.1:p.Val558= NC_000010.11:14908812:A:G p.(Val558=) NC_000010.11:14908812:A:G p.(Val558=) NC_000010.11:14908812:A:G Identity +NM_005027.4:c.1665G>A NP_005018.2:p.Glu555= NC_000019.10:18167234:G:A p.(Glu555=) NC_000019.10:18167234:G:A p.(Glu555=) NC_000019.10:18167234:G:A Identity +NM_001142800.2:c.417G>A NP_001136272.1:p.Lys139= NC_000006.12:65494993:C:T p.(Lys139=) NC_000006.12:65494993:C:T p.(Lys139=) NC_000006.12:65494993:C:T Identity +NM_003922.4:c.3843A>T NP_003913.3:p.Ala1281= NC_000015.10:63718796:T:A p.(Ala1281=) NC_000015.10:63718796:T:A p.(Ala1281=) NC_000015.10:63718796:T:A Identity +NM_000329.3:c.1071C>G NP_000320.1:p.Ala357= NC_000001.11:68438243:G:C p.(Ala357=) NC_000001.11:68438243:G:C p.(Ala357=) NC_000001.11:68438243:G:C Identity +NM_181503.3:c.453C>G NP_852480.1:p.Ala151= NC_000013.11:37007036:C:G p.(Ala151=) NC_000013.11:37007036:C:G p.(Ala151=) NC_000013.11:37007036:C:G Identity +NM_001029882.3:c.2466C>T NP_001025053.1:p.Pro822= NC_000001.11:27549649:G:A p.(Pro822=) NC_000001.11:27549649:G:A p.(Pro822=) NC_000001.11:27549649:G:A Identity +NM_000944.5:c.1185G>A NP_000935.1:p.Val395= NC_000004.12:101040537:C:T p.(Val395=) NC_000004.12:101040537:C:T p.(Val395=) NC_000004.12:101040537:C:T Identity +NM_001112808.3:c.1620A>C NP_001106279.3:p.Thr540= NC_000001.11:74367959:A:C p.(Thr540=) NC_000001.11:74367959:A:C p.(Thr540=) NC_000001.11:74367959:A:C Identity +NM_001406482.1:c.123G>A NP_001393411.1:p.Arg41= NC_000015.10:34794685:C:T p.(Arg41=) NC_000015.10:34794685:C:T p.(Arg41=) NC_000015.10:34794685:C:T Identity +NM_001164317.2:c.5862C>A NP_001157789.1:p.Ala1954= NC_000003.12:58148245:C:A p.(Ala1954=) NC_000003.12:58148245:C:A p.(Ala1954=) NC_000003.12:58148245:C:A Identity +NM_000136.3:c.837A>G NP_000127.2:p.Ser279= NC_000009.12:95135351:T:C p.(Ser279=) NC_000009.12:95135351:T:C p.(Ser279=) NC_000009.12:95135351:T:C Identity +NM_000334.4:c.522C>T NP_000325.4:p.Ile174= NC_000017.11:63971810:G:A p.(Ile174=) NC_000017.11:63971810:G:A p.(Ile174=) NC_000017.11:63971810:G:A Identity +NM_032119.4:c.593del NP_115495.3:p.Asp197_Leu198insTer NC_000005.10:90625161:TTT:TT p.(Leu198Ter) NC_000005.10:90625161:TTT:TT p.(Leu198Ter) NC_000005.10:90625163:T: Analogous +NM_001351273.1:c.2226G>A NP_001338202.1:p.Glu742= NC_000019.10:1465529:G:A p.(Glu742=) NC_000019.10:1465529:G:A p.(Glu742=) NC_000019.10:1465529:G:A Identity +NM_001172643.1:c.387T>G NP_001166114.1:p.Val129= NC_000016.10:66517846:A:C p.(Val129=) NC_000016.10:66517846:A:C p.(Val129=) NC_000016.10:66517846:A:C Identity +NM_001379500.1:c.2184T>G NP_001366429.1:p.Pro728= NC_000021.9:45492560:T:G p.(Pro728=) NC_000021.9:45492560:T:G p.(Pro728=) NC_000021.9:45492560:T:G Identity +NM_031935.3:c.2235A>T NP_114141.2:p.Ser745= NC_000001.11:185970356:A:T p.(Ser745=) NC_000001.11:185970356:A:T p.(Ser745=) NC_000001.11:185970356:A:T Identity +NM_005045.4:c.7644G>C NP_005036.2:p.Ser2548= NC_000007.14:103522045:C:G p.(Ser2548=) NC_000007.14:103522045:C:G p.(Ser2548=) NC_000007.14:103522045:C:G Identity +NM_005559.4:c.7404T>C NP_005550.2:p.Phe2468= NC_000018.10:6961992:A:G p.(Phe2468=) NC_000018.10:6961992:A:G p.(Phe2468=) NC_000018.10:6961992:A:G Identity +NM_001346813.1:c.2877T>C NP_001333742.1:p.Leu959= NC_000006.12:157167075:T:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001256560.2:c.168C>T NP_001243489.1:p.Leu56= NC_000003.12:58208279:G:A p.(Leu56=) NC_000003.12:58208279:G:A p.(Leu56=) NC_000003.12:58208279:G:A Identity +NM_030665.4:c.3921G>C NP_109590.3:p.Arg1307= NC_000017.11:17796868:G:C p.(Arg1307=) NC_000017.11:17796868:G:C p.(Arg1307=) NC_000017.11:17796868:G:C Identity +NM_001142800.2:c.7458T>C NP_001136272.1:p.Ser2486= NC_000006.12:63789177:A:G p.(Ser2486=) NC_000006.12:63789177:A:G p.(Ser2486=) NC_000006.12:63789177:A:G Identity +NM_012414.4:c.2986C>T NP_036546.2:p.Leu996= NC_000001.11:220167393:G:A p.(Leu996=) NC_000001.11:220167393:G:A p.(Leu996=) NC_000001.11:220167393:G:A Identity +NM_001256876.3:c.1659T>G NP_001243805.1:p.Pro553= NC_000009.12:712424:T:G p.(Pro553=) NC_000009.12:712424:T:G p.(Pro553=) NC_000009.12:712424:T:G Identity +NM_003922.4:c.9792C>T NP_003913.3:p.Ala3264= NC_000015.10:63656165:G:A p.(Ala3264=) NC_000015.10:63656165:G:A p.(Ala3264=) NC_000015.10:63656165:G:A Identity +NM_012431.3:c.108A>G NP_036563.1:p.Ser36= NC_000007.14:83648434:T:C p.(Ser36=) NC_000007.14:83648434:T:C p.(Ser36=) NC_000007.14:83648434:T:C Identity +NM_001004334.4:c.63C>A NP_001004334.3:p.Val21= NC_000017.11:38343726:G:T p.(Val21=) NC_000017.11:38343726:G:T p.(Val21=) NC_000017.11:38343726:G:T Identity +NM_014014.5:c.2976C>T NP_054733.2:p.Tyr992= NC_000002.12:96289343:G:A p.(Tyr992=) NC_000002.12:96289343:G:A p.(Tyr992=) NC_000002.12:96289343:G:A Identity +NM_001363729.2:c.1767C>T NP_001350658.1:p.Asp589= NC_000020.11:36892940:G:A p.(Asp589=) NC_000020.11:36892940:G:A p.(Asp589=) NC_000020.11:36892940:G:A Identity +NM_000527.5:c.93G>A NP_000518.1:p.Glu31= NC_000019.10:11100247:G:A p.(Glu31=) NC_000019.10:11100247:G:A p.(Glu31=) NC_000019.10:11100247:G:A Identity +NM_000109.4:c.2796A>G NP_000100.3:p.Pro932= NC_000023.11:32472292:T:C p.(Pro932=) NC_000023.11:32472292:T:C p.(Pro932=) NC_000023.11:32472292:T:C Identity +NM_001105243.2:c.1045C>T NP_001098713.1:p.Leu349= NC_000023.11:100407552:G:A p.(Leu349=) NC_000023.11:100407552:G:A p.(Leu349=) NC_000023.11:100407552:G:A Identity +NM_001276378.2:c.504A>G NP_001263307.1:p.Leu168= NC_000003.12:45830957:T:C p.(Leu168=) NC_000003.12:45830957:T:C p.(Leu168=) NC_000003.12:45830957:T:C Identity +NM_000051.4:c.7C>T NP_000042.3:p.Leu3= NC_000011.10:108227630:C:T p.(Leu3=) NC_000011.10:108227630:C:T p.(Leu3=) NC_000011.10:108227630:C:T Identity +NM_003482.4:c.8334A>G NP_003473.3:p.Pro2778= NC_000012.12:49039253:T:C p.(Pro2778=) NC_000012.12:49039253:T:C p.(Pro2778=) NC_000012.12:49039253:T:C Identity +NM_015180.6:c.3846C>T NP_055995.4:p.Gly1282= NC_000014.9:64002778:C:T p.(Gly1282=) NC_000014.9:64002778:C:T p.(Gly1282=) NC_000014.9:64002778:C:T Identity +NM_004525.3:c.11061A>G NP_004516.2:p.Lys3687= NC_000002.12:169173177:T:C p.(Lys3687=) NC_000002.12:169173177:T:C p.(Lys3687=) NC_000002.12:169173177:T:C Identity +NM_003632.3:c.669G>T NP_003623.1:p.Val223= NC_000017.11:42685373:G:T p.(Val223=) NC_000017.11:42685373:G:T p.(Val223=) NC_000017.11:42685373:G:T Identity +NM_001080976.3:c.1620A>G NP_001074445.1:p.Glu540= NC_000006.12:116436087:A:G p.(Glu540=) NC_000006.12:116436087:A:G p.(Glu540=) NC_000006.12:116436087:A:G Identity +NM_012463.4:c.519G>C NP_036595.2:p.Leu173= NC_000012.12:123726282:G:C p.(Leu173=) NC_000012.12:123726282:G:C p.(Leu173=) NC_000012.12:123726282:G:C Identity +NM_005120.3:c.216C>T NP_005111.2:p.Asn72= NC_000023.11:71119696:C:T p.(Asn72=) NC_000023.11:71119696:C:T p.(Asn72=) NC_000023.11:71119696:C:T Identity +NM_001178032.3:c.21T>A NP_001171503.1:p.Arg7= NC_000023.11:64921951:A:T p.(Arg7=) NC_000023.11:64921951:A:T p.(Arg7=) NC_000023.11:64921951:A:T Identity +NM_001256468.2:c.2682_2693dup NP_001243397.1:p.Glu897_Glu898insAspGluGluGlu NC_000010.11:75022078:GAGGAGGAGGACGAGGAGGAGGA:GAGGAGGAGGACGAGGAGGAGGACGAGGAGGAGGA p.(Asp894_Glu897dup) NC_000010.11:75022078:GAGGAGGAGGACGAGGAGGAGGA:GAGGAGGAGGACGAGGAGGAGGACGAGGAGGAGGA p.(Asp894_Glu897dup) ERR:SPDI Analogous +NM_002335.4:c.438C>T NP_002326.2:p.Phe146= NC_000011.10:68348192:C:T p.(Phe146=) NC_000011.10:68348192:C:T p.(Phe146=) NC_000011.10:68348192:C:T Identity +NM_000215.4:c.495G>A NP_000206.2:p.Leu165= NC_000019.10:17843097:C:T p.(Leu165=) NC_000019.10:17843097:C:T p.(Leu165=) NC_000019.10:17843097:C:T Identity +NM_000452.3:c.495A>T NP_000443.2:p.Ile165= NC_000013.11:103058264:T:A p.(Ile165=) NC_000013.11:103058264:T:A p.(Ile165=) NC_000013.11:103058264:T:A Identity +NM_000538.4:c.135C>T NP_000529.1:p.Thr45= NC_000013.11:36819491:C:T p.(Thr45=) NC_000013.11:36819491:C:T p.(Thr45=) NC_000013.11:36819491:C:T Identity +NM_001145770.3:c.1095G>C NP_001139242.1:p.Gly365= NC_000016.10:57656544:G:C p.(Gly365=) NC_000016.10:57656544:G:C p.(Gly365=) NC_000016.10:57656544:G:C Identity +NM_001271052.1:c.108C>T NP_001257981.1:p.Asp36= NC_000019.10:14774028:G:A p.(Asp36=) NC_000019.10:14774028:G:A p.(Asp36=) NC_000019.10:14774028:G:A Identity +NM_000037.4:c.4080C>T NP_000028.3:p.Asn1360= NC_000008.11:41690250:G:A p.(Asn1360=) NC_000008.11:41690250:G:A p.(Asn1360=) NC_000008.11:41690250:G:A Identity +NM_001349346.2:c.132G>C NP_001336275.1:p.Ala44= NC_000008.11:37765557:G:C p.(Ala44=) NC_000008.11:37765557:G:C p.(Ala44=) NC_000008.11:37765557:G:C Identity +NM_001142800.2:c.9141A>G NP_001136272.1:p.Val3047= NC_000006.12:63720889:T:C p.(Val3047=) NC_000006.12:63720889:T:C p.(Val3047=) NC_000006.12:63720889:T:C Identity +NM_007123.6:c.1383A>T NP_009054.6:p.Pro461= NC_000001.11:216323640:T:A p.(Pro461=) NC_000001.11:216323640:T:A p.(Pro461=) NC_000001.11:216323640:T:A Identity +NM_000393.5:c.897G>A NP_000384.2:p.Lys299= NC_000002.12:189080998:C:T p.(Lys299=) NC_000002.12:189080998:C:T p.(Lys299=) NC_000002.12:189080998:C:T Identity +NM_001257281.2:c.54T>A NP_001244210.1:p.Gly18= NC_000002.12:232015514:T:A p.(Gly18=) NC_000002.12:232015514:T:A p.(Gly18=) NC_000002.12:232015514:T:A Identity +NM_001174098.2:c.372G>A NP_001167569.1:p.Leu124= NC_000010.11:71344279:G:A p.(Leu124=) NC_000010.11:71344279:G:A p.(Leu124=) NC_000010.11:71344279:G:A Identity +NM_000346.4:c.1440C>T NP_000337.1:p.Ile480= NC_000017.11:72124296:C:T p.(Ile480=) NC_000017.11:72124296:C:T p.(Ile480=) NC_000017.11:72124296:C:T Identity +NM_000091.5:c.3282_3302dup NP_000082.2:p.Gly1101_Ala1102insGlyProAlaGlyProGluGly NC_000002.12:227293261:GGGGCCTGCTGGACCTGAGGG:GGGGCCTGCTGGACCTGAGGGGGGGCCTGCTGGACCTGAGGG p.(Gly1095_Gly1101dup) NC_000002.12:227293261:GGGGCCTGCTGGACCTGAGGG:GGGGCCTGCTGGACCTGAGGGGGGGCCTGCTGGACCTGAGGG p.(Gly1095_Gly1101dup) ERR:SPDI Analogous +NM_032861.4:c.1704A>G NP_116250.3:p.Thr568= NC_000006.12:158113572:T:C p.(Thr568=) NC_000006.12:158113572:T:C p.(Thr568=) NC_000006.12:158113572:T:C Identity +NM_000388.4:c.345T>C NP_000379.3:p.Val115= NC_000003.12:122257239:T:C p.(Val115=) NC_000003.12:122257239:T:C p.(Val115=) NC_000003.12:122257239:T:C Identity +NM_000170.3:c.2634T>C NP_000161.2:p.Ala878= NC_000009.12:6540081:A:G p.(Ala878=) NC_000009.12:6540081:A:G p.(Ala878=) NC_000009.12:6540081:A:G Identity +NM_001256850.1:c.64419C>T NP_001243779.1:p.Val21473= NC_000002.12:178576992:G:A p.(Val21473=) NC_000002.12:178576992:G:A p.(Val21473=) NC_000002.12:178576992:G:A Identity +NM_002291.3:c.4507C>T NP_002282.2:p.Leu1503= NC_000007.14:107931385:G:A p.(Leu1503=) NC_000007.14:107931385:G:A p.(Leu1503=) NC_000007.14:107931385:G:A Identity +NM_000093.5:c.3873T>C NP_000084.3:p.Gly1291= NC_000009.12:134814002:T:C p.(Gly1291=) NC_000009.12:134814002:T:C p.(Gly1291=) NC_000009.12:134814002:T:C Identity +NM_001197104.2:c.7452T>C NP_001184033.1:p.Asn2484= NC_000011.10:118503343:T:C p.(Asn2484=) NC_000011.10:118503343:T:C p.(Asn2484=) NC_000011.10:118503343:T:C Identity +NM_002334.4:c.2028C>A NP_002325.2:p.Ile676= NC_000011.10:46890007:G:T p.(Ile676=) NC_000011.10:46890007:G:T p.(Ile676=) NC_000011.10:46890007:G:T Identity +NM_000807.4:c.51C>T NP_000798.2:p.Phe17= NC_000004.12:46388655:G:A p.(Phe17=) NC_000004.12:46388655:G:A p.(Phe17=) NC_000004.12:46388655:G:A Identity +NM_001371411.1:c.405C>T NP_001358340.1:p.His135= NC_000002.12:227699309:G:A p.(His135=) NC_000002.12:227699309:G:A p.(His135=) NC_000002.12:227699309:G:A Identity +NM_001256850.1:c.25731G>C NP_001243779.1:p.Pro8577= NC_000002.12:178713975:C:G p.(Pro8577=) NC_000002.12:178713975:C:G p.(Pro8577=) NC_000002.12:178713975:C:G Identity +NM_032833.5:c.1008A>G NP_116222.4:p.Pro336= NC_000001.11:204410403:T:C p.(Pro336=) NC_000001.11:204410403:T:C p.(Pro336=) NC_000001.11:204410403:T:C Identity +NM_000272.5:c.1232_1248del NP_000263.2:p.Leu410_Cys411insTer NC_000002.12:110160129:ATTACCATCAAATAGACA:A p.(Cys411Ter) NC_000002.12:110160129:ATTACCATCAAATAGACA:A p.(Cys411Ter) NC_000002.12:110160129:ATTACCATCAAATAGAC: Analogous +NM_000487.6:c.300G>A NP_000478.3:p.Gly100= NC_000022.11:50627330:C:T p.(Gly100=) NC_000022.11:50627330:C:T p.(Gly100=) NC_000022.11:50627330:C:T Identity +NM_001853.4:c.1821A>C NP_001844.3:p.Ala607= NC_000020.11:62838717:A:C p.(Ala607=) NC_000020.11:62838717:A:C p.(Ala607=) NC_000020.11:62838717:A:C Identity +NM_000103.4:c.1194T>C NP_000094.2:p.Ile398= NC_000015.10:51212388:A:G p.(Ile398=) NC_000015.10:51212388:A:G p.(Ile398=) NC_000015.10:51212388:A:G Identity +NM_000092.5:c.3102A>T NP_000083.3:p.Ser1034= NC_000002.12:227051024:T:A p.(Ser1034=) NC_000002.12:227051024:T:A p.(Ser1034=) NC_000002.12:227051024:T:A Identity +NM_170606.3:c.1599G>T NP_733751.2:p.Val533= NC_000007.14:152251960:C:A p.(Val533=) NC_000007.14:152251960:C:A p.(Val533=) NC_000007.14:152251960:C:A Identity +NM_006059.4:c.4470C>T NP_006050.3:p.Ala1490= NC_000009.12:131087809:C:T p.(Ala1490=) NC_000009.12:131087809:C:T p.(Ala1490=) NC_000009.12:131087809:C:T Identity +NM_000791.4:c.261T>C NP_000782.1:p.Ala87= NC_000005.10:80637990:A:G p.(Ala87=) NC_000005.10:80637990:A:G p.(Ala87=) NC_000005.10:80637990:A:G Identity +NM_000456.3:c.693C>T NP_000447.2:p.Arg231= NC_000012.12:56004081:C:T p.(Arg231=) NC_000012.12:56004081:C:T p.(Arg231=) NC_000012.12:56004081:C:T Identity +NM_001256850.1:c.92073C>A NP_001243779.1:p.Gly30691= NC_000002.12:178542857:G:T p.(Gly30691=) NC_000002.12:178542857:G:T p.(Gly30691=) NC_000002.12:178542857:G:T Identity +NM_001256876.3:c.2082C>G NP_001243805.1:p.Ser694= NC_000009.12:712847:C:G p.(Ser694=) NC_000009.12:712847:C:G p.(Ser694=) NC_000009.12:712847:C:G Identity +NM_001267578.2:c.261A>G NP_001254507.1:p.Leu87= NC_000001.11:179882762:A:G p.(Leu87=) NC_000001.11:179882762:A:G p.(Leu87=) NC_000001.11:179882762:A:G Identity +NM_000253.4:c.540T>C NP_000244.2:p.Ala180= NC_000004.12:99591272:T:C p.(Ala180=) NC_000004.12:99591272:T:C p.(Ala180=) NC_000004.12:99591272:T:C Identity +NM_001270507.2:c.1008A>G NP_001257436.1:p.Pro336= NC_000006.12:137878452:A:G p.(Pro336=) NC_000006.12:137878452:A:G p.(Pro336=) NC_000006.12:137878452:A:G Identity +NM_003737.4:c.6411T>C NP_003728.1:p.Ser2137= NC_000011.10:6626333:A:G p.(Ser2137=) NC_000011.10:6626333:A:G p.(Ser2137=) NC_000011.10:6626333:A:G Identity +NM_001199397.3:c.1821T>C NP_001186326.1:p.Leu607= NC_000004.12:169508259:A:G p.(Leu607=) NC_000004.12:169508259:A:G p.(Leu607=) NC_000004.12:169508259:A:G Identity +NM_020461.4:c.3366A>C NP_065194.3:p.Ser1122= NC_000022.11:50220992:T:G p.(Ser1122=) NC_000022.11:50220992:T:G p.(Ser1122=) NC_000022.11:50220992:T:G Identity +NM_001008537.3:c.3591G>A NP_001008537.1:p.Arg1197= NC_000023.11:74740965:C:T p.(Arg1197=) NC_000023.11:74740965:C:T p.(Arg1197=) NC_000023.11:74740965:C:T Identity +NM_001256850.1:c.19335T>G NP_001243779.1:p.Val6445= NC_000002.12:178726035:A:C p.(Val6445=) NC_000002.12:178726035:A:C p.(Val6445=) NC_000002.12:178726035:A:C Identity +NM_000229.2:c.1016_1030del NP_000220.1:p.Tyr339_Pro344delinsSer NC_000016.10:67940196:GCAGGCCCACGCCGT: p.(Tyr339_Pro344delinsSer) NC_000016.10:67940196:GCAGGCCCACGCCGT: p.(Tyr339_Pro344delinsSer) NC_000016.10:67940196:GCAGGCCCACGCCGT: Identity +NM_001379286.1:c.147G>T NP_001366215.1:p.Ala49= NC_000016.10:49730924:C:A p.(Ala49=) NC_000016.10:49730924:C:A p.(Ala49=) NC_000016.10:49730924:C:A Identity +NM_001103.4:c.1176G>A NP_001094.1:p.Glu392= NC_000001.11:236742963:G:A p.(Glu392=) NC_000001.11:236742963:G:A p.(Glu392=) NC_000001.11:236742963:G:A Identity +NM_001256850.1:c.99606G>A NP_001243779.1:p.Leu33202= NC_000002.12:178532085:C:T p.(Leu33202=) NC_000002.12:178532085:C:T p.(Leu33202=) NC_000002.12:178532085:C:T Identity +NM_000052.7:c.3630T>C NP_000043.4:p.Gly1210= NC_000023.11:78038953:T:C p.(Gly1210=) NC_000023.11:78038953:T:C p.(Gly1210=) NC_000023.11:78038953:T:C Identity +NM_001178007.2:c.2036del NP_001171478.1:p.Asp678_Leu679insTer NC_000004.12:122743925:TTT:TT p.(Leu679Ter) NC_000004.12:122743925:TTT:TT p.(Leu679Ter) NC_000004.12:122743927:T: Analogous +NM_001145472.3:c.2595C>T NP_001138944.1:p.Ser865= NC_000018.10:46489092:G:A p.(Ser865=) NC_000018.10:46489092:G:A p.(Ser865=) NC_000018.10:46489092:G:A Identity +NM_000548.5:c.2304A>G NP_000539.2:p.Pro768= NC_000016.10:2072931:A:G p.(Pro768=) NC_000016.10:2072931:A:G p.(Pro768=) NC_000016.10:2072931:A:G Identity +NM_005562.3:c.2916C>T NP_005553.2:p.Ala972= NC_000001.11:183239409:C:T p.(Ala972=) NC_000001.11:183239409:C:T p.(Ala972=) NC_000001.11:183239409:C:T Identity +NM_000094.4:c.6672A>C NP_000085.1:p.Gly2224= NC_000003.12:48573215:T:G p.(Gly2224=) NC_000003.12:48573215:T:G p.(Gly2224=) NC_000003.12:48573215:T:G Identity +NM_000153.4:c.1257A>G NP_000144.2:p.Glu419= NC_000014.9:87949925:T:C p.(Glu419=) NC_000014.9:87949925:T:C p.(Glu419=) NC_000014.9:87949925:T:C Identity +NM_015509.4:c.30G>A NP_056324.2:p.Val10= NC_000012.12:8082317:G:A p.(Val10=) NC_000012.12:8082317:G:A p.(Val10=) NC_000012.12:8082317:G:A Identity +NM_001320759.2:c.645T>C NP_001307688.1:p.Thr215= NC_000017.11:18299618:A:G p.(Thr215=) NC_000017.11:18299618:A:G p.(Thr215=) NC_000017.11:18299618:A:G Identity +NM_000159.4:c.1218C>T NP_000150.1:p.Asn406= NC_000019.10:12897837:C:T p.(Asn406=) NC_000019.10:12897837:C:T p.(Asn406=) NC_000019.10:12897837:C:T Identity +NM_001079866.2:c.1182C>A NP_001073335.1:p.Ala394= NC_000002.12:218663307:C:A p.(Ala394=) NC_000002.12:218663307:C:A p.(Ala394=) NC_000002.12:218663307:C:A Identity +NM_001122633.3:c.3858G>A NP_001116105.2:p.Glu1286= NC_000002.12:210660585:G:A p.(Glu1286=) NC_000002.12:210660585:G:A p.(Glu1286=) NC_000002.12:210660585:G:A Identity +NM_004387.4:c.429G>A NP_004378.1:p.Val143= NC_000005.10:173233114:C:T p.(Val143=) NC_000005.10:173233114:C:T p.(Val143=) NC_000005.10:173233114:C:T Identity +NM_001146289.2:c.1524T>G NP_001139761.1:p.Thr508= NC_000001.11:42752318:A:C p.(Thr508=) NC_000001.11:42752318:A:C p.(Thr508=) NC_000001.11:42752318:A:C Identity +NM_000059.4:c.2574A>G NP_000050.3:p.Arg858= NC_000013.11:32336928:A:G p.(Arg858=) NC_000013.11:32336928:A:G p.(Arg858=) NC_000013.11:32336928:A:G Identity +NM_000601.6:c.1272T>C NP_000592.3:p.Arg424= NC_000007.14:81717364:A:G p.(Arg424=) NC_000007.14:81717364:A:G p.(Arg424=) NC_000007.14:81717364:A:G Identity +NM_001170629.2:c.1608C>T NP_001164100.1:p.Ile536= NC_000014.9:21426235:G:A p.(Ile536=) NC_000014.9:21426235:G:A p.(Ile536=) NC_000014.9:21426235:G:A Identity +NM_145290.4:c.48G>A NP_660333.2:p.Leu16= NC_000004.12:22515736:C:T p.(Leu16=) NC_000004.12:22515736:C:T p.(Leu16=) NC_000004.12:22515736:C:T Identity +NM_000433.4:c.222C>T NP_000424.2:p.Tyr74= NC_000001.11:183586929:G:A p.(Tyr74=) NC_000001.11:183586929:G:A p.(Tyr74=) NC_000001.11:183586929:G:A Identity +NM_004525.3:c.13689A>G NP_004516.2:p.Pro4563= NC_000002.12:169132612:T:C p.(Pro4563=) NC_000002.12:169132612:T:C p.(Pro4563=) NC_000002.12:169132612:T:C Identity +NM_004839.4:c.1031A>T NP_004830.2:p.Ter344Leu NC_000015.10:82849715:T:A p.(Ter344LeuextTer10) NC_000015.10:82849715:T:A p.(Ter344LeuextTer10) NC_000015.10:82849715:T:A Analogous +NM_000070.3:c.1113T>C NP_000061.1:p.Asp371= NC_000015.10:42394338:T:C p.(Asp371=) NC_000015.10:42394338:T:C p.(Asp371=) NC_000015.10:42394338:T:C Identity +NM_001172818.1:c.1308A>G NP_001166289.1:p.Gln436= NC_000001.11:63648625:A:G p.(Gln436=) NC_000001.11:63648625:A:G p.(Gln436=) NC_000001.11:63648625:A:G Identity +NM_001145527.2:c.36G>A NP_001138999.1:p.Arg12= NC_000009.12:137710980:G:A p.(Arg12=) NC_000009.12:137710980:G:A p.(Arg12=) NC_000009.12:137710980:G:A Identity +NM_000102.4:c.210C>G NP_000093.1:p.Thr70= NC_000010.11:102837151:G:C p.(Thr70=) NC_000010.11:102837151:G:C p.(Thr70=) NC_000010.11:102837151:G:C Identity +NM_001256849.1:c.2403C>T NP_001243778.1:p.Tyr801= NC_000019.10:50414828:C:T p.(Tyr801=) NC_000019.10:50414828:C:T p.(Tyr801=) NC_000019.10:50414828:C:T Identity +NM_001014797.3:c.2211G>A NP_001014797.1:p.Leu737= NC_000010.11:76953911:C:T p.(Leu737=) NC_000010.11:76953911:C:T p.(Leu737=) NC_000010.11:76953911:C:T Identity +NM_001143779.2:c.1122A>G NP_001137251.1:p.Arg374= NC_000012.12:110162998:A:G p.(Arg374=) NC_000012.12:110162998:A:G p.(Arg374=) NC_000012.12:110162998:A:G Identity +NM_000337.6:c.243A>G NP_000328.2:p.Gly81= NC_000005.10:156508650:A:G p.(Gly81=) NC_000005.10:156508650:A:G p.(Gly81=) NC_000005.10:156508650:A:G Identity +NM_206933.4:c.14280G>A NP_996816.3:p.Lys4760= NC_000001.11:215650654:C:T p.(Lys4760=) NC_000001.11:215650654:C:T p.(Lys4760=) NC_000001.11:215650654:C:T Identity +NM_017890.5:c.7788T>G NP_060360.3:p.Ser2596= NC_000008.11:99778964:T:G p.(Ser2596=) NC_000008.11:99778964:T:G p.(Ser2596=) NC_000008.11:99778964:T:G Identity +NM_001278716.2:c.1704A>G NP_001265645.1:p.Gly568= NC_000006.12:98874439:T:C p.(Gly568=) NC_000006.12:98874439:T:C p.(Gly568=) NC_000006.12:98874439:T:C Identity +NM_000260.4:c.3315C>T NP_000251.3:p.Ser1105= NC_000011.10:77183096:C:T p.(Ser1105=) NC_000011.10:77183096:C:T p.(Ser1105=) NC_000011.10:77183096:C:T Identity +NM_001377289.1:c.738T>C NP_001364218.1:p.Asp246= NC_000006.12:70256803:A:G p.(Asp246=) NC_000006.12:70256803:A:G p.(Asp246=) NC_000006.12:70256803:A:G Identity +NM_001261427.3:c.1548G>A NP_001248356.1:p.Gly516= NC_000002.12:11787161:G:A p.(Gly516=) NC_000002.12:11787161:G:A p.(Gly516=) NC_000002.12:11787161:G:A Identity +NM_014244.5:c.1599C>T NP_055059.2:p.Pro533= NC_000005.10:179152171:G:A p.(Pro533=) NC_000005.10:179152171:G:A p.(Pro533=) NC_000005.10:179152171:G:A Identity +NM_000199.5:c.57G>A NP_000190.1:p.Arg19= NC_000017.11:80220256:C:T p.(Arg19=) NC_000017.11:80220256:C:T p.(Arg19=) NC_000017.11:80220256:C:T Identity +NM_031935.3:c.8118C>T NP_114141.2:p.Leu2706= NC_000001.11:186070735:C:T p.(Leu2706=) NC_000001.11:186070735:C:T p.(Leu2706=) NC_000001.11:186070735:C:T Identity +NM_001375654.1:c.282C>G NP_001362583.1:p.Arg94= NC_000008.11:54621247:C:G p.(Arg94=) NC_000008.11:54621247:C:G p.(Arg94=) NC_000008.11:54621247:C:G Identity +NM_001142800.2:c.1206A>G NP_001136272.1:p.Glu402= NC_000006.12:65384478:T:C p.(Glu402=) NC_000006.12:65384478:T:C p.(Glu402=) NC_000006.12:65384478:T:C Identity +NM_001369786.1:c.432A>G NP_001356715.1:p.Thr144= NC_000012.12:25225631:T:C p.(Thr144=) NC_000012.12:25225631:T:C p.(Thr144=) NC_000012.12:25225631:T:C Identity +NM_001378454.1:c.8874A>G NP_001365383.1:p.Ser2958= NC_000002.12:73490832:A:G p.(Ser2958=) NC_000002.12:73490832:A:G p.(Ser2958=) NC_000002.12:73490832:A:G Identity +NM_138694.4:c.6609A>G NP_619639.3:p.Gly2203= NC_000006.12:51909355:T:C p.(Gly2203=) NC_000006.12:51909355:T:C p.(Gly2203=) NC_000006.12:51909355:T:C Identity +NM_000215.4:c.2055C>A NP_000206.2:p.Thr685= NC_000019.10:17834995:G:T p.(Thr685=) NC_000019.10:17834995:G:T p.(Thr685=) NC_000019.10:17834995:G:T Identity +NM_001293306.2:c.1725T>C NP_001280235.2:p.Ser575= NC_000003.12:38752248:A:G p.(Ser575=) NC_000003.12:38752248:A:G p.(Ser575=) NC_000003.12:38752248:A:G Identity +NM_001136193.2:c.1965T>G NP_001129665.1:p.Leu655= NC_000002.12:206790637:T:G p.(Leu655=) NC_000002.12:206790637:T:G p.(Leu655=) NC_000002.12:206790637:T:G Identity +NM_000548.5:c.4224C>A NP_000539.2:p.Gly1408= NC_000016.10:2084445:C:A p.(Gly1408=) NC_000016.10:2084445:C:A p.(Gly1408=) NC_000016.10:2084445:C:A Identity +NM_001008844.3:c.1002C>T NP_001008844.1:p.Asp334= NC_000006.12:7566438:C:T p.(Asp334=) NC_000006.12:7566438:C:T p.(Asp334=) NC_000006.12:7566438:C:T Identity +NM_001848.3:c.741C>T NP_001839.2:p.Cys247= NC_000021.9:45987500:C:T p.(Cys247=) NC_000021.9:45987500:C:T p.(Cys247=) NC_000021.9:45987500:C:T Identity +NM_001167614.2:c.465C>T NP_001161086.1:p.Gly155= NC_000012.12:65170060:C:T p.(Gly155=) NC_000012.12:65170060:C:T p.(Gly155=) NC_000012.12:65170060:C:T Identity +NM_001166136.2:c.1959G>A NP_001159608.1:p.Leu653= NC_000004.12:5622838:C:T p.(Leu653=) NC_000004.12:5622838:C:T p.(Leu653=) NC_000004.12:5622838:C:T Identity +LRG_534t1:c.2109C>A LRG_534p1:p.Ile703= NC_000002.12:232333937:C:A ERR:Data provider error: ValueError: Transcript LRG_534t1 not found ERR:Data provider error: ValueError: Transcript LRG_534t1 not found ERR:AlignmentMapper(tx_ac=LRG_534t1, alt_ac=LRG_534t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_534t1, alt_ac=LRG_534t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_534t1 not found +NM_000263.4:c.80_82dup NP_000254.2:p.Arg27_Glu28insGly NC_000017.11:42536351:GGG:GGGGGG p.(Arg27_Glu28insGly) NC_000017.11:42536351:GGG:GGGGGG p.(Arg27_Glu28insGly) ERR:SPDI Identity +NM_000410.4:c.525G>C NP_000401.1:p.Arg175= NC_000006.12:26091497:G:C p.(Arg175=) NC_000006.12:26091497:G:C p.(Arg175=) NC_000006.12:26091497:G:C Identity +NM_001204.7:c.1023G>C NP_001195.2:p.Val341= NC_000002.12:202530848:G:C p.(Val341=) NC_000002.12:202530848:G:C p.(Val341=) NC_000002.12:202530848:G:C Identity +NM_176806.4:c.48T>A NP_789776.1:p.Ala16= NC_000005.10:53108613:A:T p.(Ala16=) NC_000005.10:53108613:A:T p.(Ala16=) NC_000005.10:53108613:A:T Identity +NM_001031714.4:c.1953C>T NP_001026884.3:p.Ser651= NC_000014.9:104709283:C:T p.(Ser651=) NC_000014.9:104709283:C:T p.(Ser651=) NC_000014.9:104709283:C:T Identity +NM_005876.5:c.1614G>A NP_005867.3:p.Arg538= NC_000002.12:219448771:G:A p.(Arg538=) NC_000002.12:219448771:G:A p.(Arg538=) NC_000002.12:219448771:G:A Identity +NM_001127178.3:c.177G>A NP_001120650.1:p.Thr59= NC_000004.12:500417:G:A p.(Thr59=) NC_000004.12:500417:G:A p.(Thr59=) NC_000004.12:500417:G:A Identity +NM_001288951.2:c.1516C>T NP_001275880.1:p.Leu506= NC_000002.12:47023412:C:T p.(Leu506=) NC_000002.12:47023412:C:T p.(Leu506=) NC_000002.12:47023412:C:T Identity +NM_001040113.2:c.1527G>A NP_001035202.1:p.Glu509= NC_000016.10:15757895:C:T p.(Glu509=) NC_000016.10:15757895:C:T p.(Glu509=) NC_000016.10:15757895:C:T Identity +NM_001134793.2:c.180G>A NP_001128265.1:p.Lys60= NC_000011.10:125899547:G:A p.(Lys60=) NC_000011.10:125899547:G:A p.(Lys60=) NC_000011.10:125899547:G:A Identity +NM_001079911.3:c.303T>C NP_001073380.1:p.Asp101= NC_000004.12:87662128:T:C p.(Asp101=) NC_000004.12:87662128:T:C p.(Asp101=) NC_000004.12:87662128:T:C Identity +NM_001204255.2:c.204T>C NP_001191184.1:p.Asn68= NC_000004.12:76195777:A:G p.(Asn68=) NC_000004.12:76195777:A:G p.(Asn68=) NC_000004.12:76195777:A:G Identity +NM_001447.3:c.11877T>C NP_001438.1:p.Gly3959= NC_000005.10:151512192:A:G p.(Gly3959=) NC_000005.10:151512192:A:G p.(Gly3959=) NC_000005.10:151512192:A:G Identity +NM_001303496.3:c.4017G>A NP_001290425.1:p.Arg1339= NC_000007.14:93131954:C:T p.(Arg1339=) NC_000007.14:93131954:C:T p.(Arg1339=) NC_000007.14:93131954:C:T Identity +NM_030665.4:c.3474C>G NP_109590.3:p.Ser1158= NC_000017.11:17796421:C:G p.(Ser1158=) NC_000017.11:17796421:C:G p.(Ser1158=) NC_000017.11:17796421:C:G Identity +NM_000028.3:c.4354C>T NP_000019.2:p.Leu1452= NC_000001.11:99916603:C:T p.(Leu1452=) NC_000001.11:99916603:C:T p.(Leu1452=) NC_000001.11:99916603:C:T Identity +NM_001372.4:c.8868C>T NP_001363.2:p.Ser2956= NC_000017.11:11822454:C:T p.(Ser2956=) NC_000017.11:11822454:C:T p.(Ser2956=) NC_000017.11:11822454:C:T Identity +NM_001002269.2:c.70C>T NP_001002269.1:p.Leu24= NC_000009.12:37784974:G:A p.(Leu24=) NC_000009.12:37784974:G:A p.(Leu24=) NC_000009.12:37784974:G:A Identity +NM_001410805.1:c.1267_1281dup NP_001397734.1:p.Ala427_Ser428insValLeuSerArgAla NC_000003.12:128910088:GGCCGTGCTGTCGCGGGCC:GGCCGTGCTGTCGCGGGCCGTGCTGTCGCGGGCC p.(Val423_Ala427dup) NC_000003.12:128910088:GGCCGTGCTGTCGCGGGCC:GGCCGTGCTGTCGCGGGCCGTGCTGTCGCGGGCC p.(Val423_Ala427dup) ERR:SPDI Analogous +NM_000941.3:c.1824C>T NP_000932.3:p.Val608= NC_000007.14:75986166:C:T ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.3 not found +NM_020461.4:c.3519G>A NP_065194.3:p.Glu1173= NC_000022.11:50220839:C:T p.(Glu1173=) NC_000022.11:50220839:C:T p.(Glu1173=) NC_000022.11:50220839:C:T Identity +NM_001102406.2:c.3192T>C NP_001095876.1:p.Tyr1064= NC_000004.12:112438486:T:C p.(Tyr1064=) NC_000004.12:112438486:T:C p.(Tyr1064=) NC_000004.12:112438486:T:C Identity +NM_025179.4:c.5205G>A NP_079455.3:p.Arg1735= NC_000001.11:208031609:C:T p.(Arg1735=) NC_000001.11:208031609:C:T p.(Arg1735=) NC_000001.11:208031609:C:T Identity +NM_001256850.1:c.75195A>G NP_001243779.1:p.Pro25065= NC_000002.12:178566013:T:C p.(Pro25065=) NC_000002.12:178566013:T:C p.(Pro25065=) NC_000002.12:178566013:T:C Identity +NM_001256850.1:c.45084C>T NP_001243779.1:p.Asp15028= NC_000002.12:178612517:G:A p.(Asp15028=) NC_000002.12:178612517:G:A p.(Asp15028=) NC_000002.12:178612517:G:A Identity +NM_000260.4:c.2535C>T NP_000251.3:p.Ala845= NC_000011.10:77179901:C:T p.(Ala845=) NC_000011.10:77179901:C:T p.(Ala845=) NC_000011.10:77179901:C:T Identity +NM_001204830.2:c.576G>A NP_001191759.1:p.Leu192= NC_000002.12:99162532:G:A p.(Leu192=) NC_000002.12:99162532:G:A p.(Leu192=) NC_000002.12:99162532:G:A Identity +NM_000445.5:c.9441G>A NP_000436.2:p.Leu3147= NC_000008.11:143920460:C:T p.(Leu3147=) NC_000008.11:143920460:C:T p.(Leu3147=) NC_000008.11:143920460:C:T Identity +NM_004525.3:c.2226C>T NP_004516.2:p.Phe742= NC_000002.12:169270997:G:A p.(Phe742=) NC_000002.12:169270997:G:A p.(Phe742=) NC_000002.12:169270997:G:A Identity +NM_001848.3:c.2329C>T NP_001839.2:p.Leu777= NC_000021.9:46002604:C:T p.(Leu777=) NC_000021.9:46002604:C:T p.(Leu777=) NC_000021.9:46002604:C:T Identity +NM_001197104.2:c.159G>T NP_001184033.1:p.Ala53= NC_000011.10:118436670:G:T p.(Ala53=) NC_000011.10:118436670:G:T p.(Ala53=) NC_000011.10:118436670:G:T Identity +NM_003482.4:c.5178G>A NP_003473.3:p.Gln1726= NC_000012.12:49044209:C:T p.(Gln1726=) NC_000012.12:49044209:C:T p.(Gln1726=) NC_000012.12:49044209:C:T Identity +NM_001317184.2:c.2187C>G NP_001304113.1:p.Thr729= NC_000016.10:68829727:C:G p.(Thr729=) NC_000016.10:68829727:C:G p.(Thr729=) NC_000016.10:68829727:C:G Identity +NM_001098623.2:c.22968G>A NP_001092093.2:p.Glu7656= NC_000001.11:228376802:G:A p.(Glu7656=) NC_000001.11:228376802:G:A p.(Glu7656=) NC_000001.11:228376802:G:A Identity +NM_001060.6:c.206_211del NP_001051.1:p.Gly69_Leu70del NC_000019.10:3600423:CGAGGCCG:CG p.(Gly69_Leu70del) NC_000019.10:3600423:CGAGGCCG:CG p.(Gly69_Leu70del) NC_000019.10:3600423:CGAGGC: Identity +NM_001411020.1:c.1060C>A NP_001397949.1:p.Arg354= NC_000014.9:50161518:G:T p.(Arg354=) NC_000014.9:50161518:G:T p.(Arg354=) NC_000014.9:50161518:G:T Identity +NM_000521.4:c.21G>A NP_000512.2:p.Gly7= NC_000005.10:74685280:G:A p.(Gly7=) NC_000005.10:74685280:G:A p.(Gly7=) NC_000005.10:74685280:G:A Identity +NM_001195573.1:c.3597A>C NP_001182502.1:p.Gly1199= NC_000014.9:95103798:T:G p.(Gly1199=) NC_000014.9:95103798:T:G p.(Gly1199=) NC_000014.9:95103798:T:G Identity +NM_033071.5:c.5445C>T NP_149062.2:p.Asp1815= NC_000006.12:152417012:G:A p.(Asp1815=) NC_000006.12:152417012:G:A p.(Asp1815=) NC_000006.12:152417012:G:A Identity +NM_001113178.3:c.942C>T NP_001106649.1:p.Tyr314= NC_000016.10:69653364:C:T p.(Tyr314=) NC_000016.10:69653364:C:T p.(Tyr314=) NC_000016.10:69653364:C:T Identity +NM_001284351.3:c.204C>T NP_001271280.1:p.Ala68= NC_000005.10:524118:G:A p.(Ala68=) NC_000005.10:524118:G:A p.(Ala68=) NC_000005.10:524118:G:A Identity +NM_001304482.2:c.3195G>A NP_001291411.1:p.Leu1065= NC_000003.12:47411370:G:A p.(Leu1065=) NC_000003.12:47411370:G:A p.(Leu1065=) NC_000003.12:47411370:G:A Identity +NM_001127487.2:c.4464C>G NP_001120959.1:p.Ala1488= NC_000007.14:128847951:C:G p.(Ala1488=) NC_000007.14:128847951:C:G p.(Ala1488=) NC_000007.14:128847951:C:G Identity +NM_031296.3:c.360T>C NP_112586.1:p.Ala120= NC_000004.12:139472795:T:C p.(Ala120=) NC_000004.12:139472795:T:C p.(Ala120=) NC_000004.12:139472795:T:C Identity +NM_000335.5:c.6009C>T NP_000326.2:p.Phe2003= NC_000003.12:38550359:G:A p.(Phe2003=) NC_000003.12:38550359:G:A p.(Phe2003=) NC_000003.12:38550359:G:A Identity +NM_001193306.2:c.876C>T NP_001180235.1:p.Phe292= NC_000019.10:51746118:G:A p.(Phe292=) NC_000019.10:51746118:G:A p.(Phe292=) NC_000019.10:51746118:G:A Identity +NM_001302453.1:c.393C>T NP_001289382.1:p.His131= NC_000019.10:11426929:G:A p.(His131=) NC_000019.10:11426929:G:A p.(His131=) NC_000019.10:11426929:G:A Identity +NM_001306079.2:c.1458G>T NP_001293008.1:p.Val486= NC_000002.12:27225080:G:T p.(Val486=) NC_000002.12:27225080:G:T p.(Val486=) NC_000002.12:27225080:G:T Identity +NM_000426.4:c.8499C>T NP_000417.3:p.Asp2833= NC_000006.12:129503231:C:T p.(Asp2833=) NC_000006.12:129503231:C:T p.(Asp2833=) NC_000006.12:129503231:C:T Identity +NM_006158.5:c.275_286del NP_006149.2:p.Ala92_Gln95del NC_000008.11:24956229:CCTGGAGCTGCGCCT:CCT p.(Ala92_Gln95del) NC_000008.11:24956229:CCTGGAGCTGCGCCT:CCT p.(Ala92_Gln95del) NC_000008.11:24956229:CCTGGAGCTGCG: Identity +NM_001024218.2:c.2154G>A NP_001019389.1:p.Gln718= NC_000014.9:67180879:G:A p.(Gln718=) NC_000014.9:67180879:G:A p.(Gln718=) NC_000014.9:67180879:G:A Identity +NM_001127487.2:c.2832G>T NP_001120959.1:p.Val944= NC_000007.14:128843815:G:T p.(Val944=) NC_000007.14:128843815:G:T p.(Val944=) NC_000007.14:128843815:G:T Identity +NM_001852.4:c.213TGGGCCAGA[3] NP_001843.1:p.Gly78_Lys79insProAspGly NC_000001.11:40314223:TCTGGCCCATCTGGCCCA:TCTGGCCCATCTGGCCCATCTGGCCCA p.(Pro76_Gly78dup) NC_000001.11:40314240:A:TCTGGCCCATCTGGCCCATCTGGCCCA ERR:Parse ERR:Parse Analogous +NM_001004334.4:c.5160A>G NP_001004334.3:p.Gly1720= NC_000017.11:38328408:T:C p.(Gly1720=) NC_000017.11:38328408:T:C p.(Gly1720=) NC_000017.11:38328408:T:C Identity +NM_001079878.2:c.27C>A NP_001073347.1:p.Ser9= NC_000002.12:98370001:C:A p.(Ser9=) NC_000002.12:98370001:C:A p.(Ser9=) NC_000002.12:98370001:C:A Identity +NM_000158.4:c.1878C>T NP_000149.4:p.Asn626= NC_000003.12:81535250:G:A p.(Asn626=) NC_000003.12:81535250:G:A p.(Asn626=) NC_000003.12:81535250:G:A Identity +NM_025219.3:c.360C>T NP_079495.1:p.Tyr120= NC_000020.11:63930888:C:T p.(Tyr120=) NC_000020.11:63930888:C:T p.(Tyr120=) NC_000020.11:63930888:C:T Identity +NM_015512.5:c.7809C>G NP_056327.4:p.Ala2603= NC_000003.12:52382322:C:G p.(Ala2603=) NC_000003.12:52382322:C:G p.(Ala2603=) NC_000003.12:52382322:C:G Identity +NM_006766.5:c.4837_4854del NP_006757.2:p.Gly1613_Met1618del NC_000008.11:41933365:CATGCTGCAGCTGCTGCCCATGCTG:CATGCTG p.(Gly1613_Met1618del) NC_000008.11:41933365:CATGCTGCAGCTGCTGCCCATGCTG:CATGCTG p.(Gly1613_Met1618del) NC_000008.11:41933365:CATGCTGCAGCTGCTGCC: Identity +NM_015909.4:c.1383T>G NP_056993.2:p.Thr461= NC_000002.12:15474282:A:C p.(Thr461=) NC_000002.12:15474282:A:C p.(Thr461=) NC_000002.12:15474282:A:C Identity +NM_001105540.2:c.1683A>T NP_001099010.1:p.Pro561= NC_000011.10:46372817:A:T p.(Pro561=) NC_000011.10:46372817:A:T p.(Pro561=) NC_000011.10:46372817:A:T Identity +NM_001174116.3:c.7566T>C NP_001167587.1:p.Asn2522= NC_000015.10:51465605:A:G p.(Asn2522=) NC_000015.10:51465605:A:G p.(Asn2522=) NC_000015.10:51465605:A:G Identity +NM_001170794.2:c.1461C>G NP_001164265.1:p.Ala487= NC_000006.12:89950644:G:C p.(Ala487=) NC_000006.12:89950644:G:C p.(Ala487=) NC_000006.12:89950644:G:C Identity +NM_021076.4:c.1311G>A NP_066554.2:p.Lys437= NC_000022.11:29488950:G:A p.(Lys437=) NC_000022.11:29488950:G:A p.(Lys437=) NC_000022.11:29488950:G:A Identity +NM_000246.4:c.1632C>T NP_000237.2:p.Leu544= NC_000016.10:10907123:C:T p.(Leu544=) NC_000016.10:10907123:C:T p.(Leu544=) NC_000016.10:10907123:C:T Identity +NM_002709.3:c.504C>T NP_002700.1:p.Ile168= NC_000002.12:28781825:C:T p.(Ile168=) NC_000002.12:28781825:C:T p.(Ile168=) NC_000002.12:28781825:C:T Identity +NM_000497.4:c.1191C>T NP_000488.3:p.Ile397= NC_000008.11:142875242:G:A p.(Ile397=) NC_000008.11:142875242:G:A p.(Ile397=) NC_000008.11:142875242:G:A Identity +NM_001347827.2:c.1383C>A NP_001334756.1:p.Ser461= NC_000004.12:54273554:C:A p.(Ser461=) NC_000004.12:54273554:C:A p.(Ser461=) NC_000004.12:54273554:C:A Identity +NM_000339.3:c.3075C>T NP_000330.3:p.Leu1025= NC_000016.10:56913386:C:T p.(Leu1025=) NC_000016.10:56913386:C:T p.(Leu1025=) NC_000016.10:56913386:C:T Identity +NM_004795.4:c.267C>A NP_004786.2:p.Ile89= NC_000013.11:33016706:C:A p.(Ile89=) NC_000013.11:33016706:C:A p.(Ile89=) NC_000013.11:33016706:C:A Identity +NM_000287.4:c.792G>A NP_000278.3:p.Glu264= NC_000006.12:42978358:C:T p.(Glu264=) NC_000006.12:42978358:C:T p.(Glu264=) NC_000006.12:42978358:C:T Identity +NM_001122670.2:c.1176A>C NP_001116142.1:p.Arg392= NC_000023.11:72652612:T:G p.(Arg392=) NC_000023.11:72652612:T:G p.(Arg392=) NC_000023.11:72652612:T:G Identity +NM_001164507.2:c.24093C>T NP_001157979.2:p.His8031= NC_000002.12:151499318:G:A p.(His8031=) NC_000002.12:151499318:G:A p.(His8031=) NC_000002.12:151499318:G:A Identity +NM_005458.8:c.2613C>T NP_005449.5:p.Pro871= NC_000009.12:98293831:G:A p.(Pro871=) NC_000009.12:98293831:G:A p.(Pro871=) NC_000009.12:98293831:G:A Identity +NM_001346897.2:c.2748C>T NP_001333826.1:p.Phe916= NC_000007.14:55200349:C:T p.(Phe916=) NC_000007.14:55200349:C:T p.(Phe916=) NC_000007.14:55200349:C:T Identity +NM_001306129.2:c.1653C>T NP_001293058.2:p.Gly551= NC_000002.12:215420694:G:A p.(Gly551=) NC_000002.12:215420694:G:A p.(Gly551=) NC_000002.12:215420694:G:A Identity +NM_001410772.1:c.1116A>T NP_001397701.1:p.Pro372= NC_000003.12:52404532:T:A p.(Pro372=) NC_000003.12:52404532:T:A p.(Pro372=) NC_000003.12:52404532:T:A Identity +NM_001123226.2:c.1749G>T NP_001116698.1:p.Leu583= NC_000006.12:73482611:G:T p.(Leu583=) NC_000006.12:73482611:G:T p.(Leu583=) NC_000006.12:73482611:G:T Identity +NM_153006.3:c.1434C>A NP_694551.1:p.Thr478= NC_000017.11:44007755:C:A p.(Thr478=) NC_000017.11:44007755:C:A p.(Thr478=) NC_000017.11:44007755:C:A Identity +NM_018109.4:c.615G>A NP_060579.3:p.Lys205= NC_000010.11:30336967:C:T p.(Lys205=) NC_000010.11:30336967:C:T p.(Lys205=) NC_000010.11:30336967:C:T Identity +NM_033071.5:c.17397C>T NP_149062.2:p.Asn5799= NC_000006.12:152300712:G:A p.(Asn5799=) NC_000006.12:152300712:G:A p.(Asn5799=) NC_000006.12:152300712:G:A Identity +NM_000416.3:c.1260A>G NP_000407.1:p.Glu420= NC_000006.12:137198240:T:C p.(Glu420=) NC_000006.12:137198240:T:C p.(Glu420=) NC_000006.12:137198240:T:C Identity +NM_001354663.2:c.1602T>G NP_001341592.1:p.Leu534= NC_000003.12:193654984:T:G p.(Leu534=) NC_000003.12:193654984:T:G p.(Leu534=) NC_000003.12:193654984:T:G Identity +NM_206933.4:c.14535C>T NP_996816.3:p.Ala4845= NC_000001.11:215648574:G:A p.(Ala4845=) NC_000001.11:215648574:G:A p.(Ala4845=) NC_000001.11:215648574:G:A Identity +NM_001291285.3:c.5487C>T NP_001278214.1:p.Ile1829= NC_000004.12:125407058:C:T p.(Ile1829=) NC_000004.12:125407058:C:T p.(Ile1829=) NC_000004.12:125407058:C:T Identity +NM_001271999.2:c.363A>G NP_001258928.1:p.Thr121= NC_000001.11:62653750:T:C p.(Thr121=) NC_000001.11:62653750:T:C p.(Thr121=) NC_000001.11:62653750:T:C Identity +NM_080679.3:c.4683G>A NP_542410.2:p.Gly1561= NC_000006.12:33164332:C:T p.(Gly1561=) NC_000006.12:33164332:C:T p.(Gly1561=) NC_000006.12:33164332:C:T Identity +NM_001170629.2:c.4027_4028del NP_001164100.1:p.Thr1342_Ile1343insTer NC_000014.9:21401990:AT: p.(Ile1343Ter) NC_000014.9:21401990:AT: p.(Ile1343Ter) NC_000014.9:21401990:AT: Analogous +NM_153603.4:c.570A>G NP_705831.1:p.Pro190= NC_000016.10:23442510:T:C p.(Pro190=) NC_000016.10:23442510:T:C p.(Pro190=) NC_000016.10:23442510:T:C Identity +NM_000843.4:c.120G>T NP_000834.2:p.Thr40= NC_000005.10:178994824:C:A p.(Thr40=) NC_000005.10:178994824:C:A p.(Thr40=) NC_000005.10:178994824:C:A Identity +NM_000455.5:c.131_136del NP_000446.1:p.Lys44_Leu45del NC_000019.10:1207041:CAAGCTCA:CA p.(Lys44_Leu45del) NC_000019.10:1207041:CAAGCTCA:CA p.(Lys44_Leu45del) NC_000019.10:1207043:AGCTCA: Identity +NM_001172631.3:c.789G>C NP_001166102.1:p.Gly263= NC_000014.9:102425128:G:C p.(Gly263=) NC_000014.9:102425128:G:C p.(Gly263=) NC_000014.9:102425128:G:C Identity +NM_001376.5:c.8529G>A NP_001367.2:p.Arg2843= NC_000014.9:102022771:G:A p.(Arg2843=) NC_000014.9:102022771:G:A p.(Arg2843=) NC_000014.9:102022771:G:A Identity +NM_007312.3:c.615T>G NP_009296.1:p.Pro205= NC_000003.12:50302341:A:C ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_000321.3:c.1809A>C NP_000312.2:p.Ala603= NC_000013.11:48453105:A:C p.(Ala603=) NC_000013.11:48453105:A:C p.(Ala603=) NC_000013.11:48453105:A:C Identity +NM_004813.4:c.594G>A NP_004804.2:p.Arg198= NC_000011.10:45914415:C:T p.(Arg198=) NC_000011.10:45914415:C:T p.(Arg198=) NC_000011.10:45914415:C:T Identity +NM_001178007.2:c.852G>A NP_001171478.1:p.Lys284= NC_000004.12:122742743:G:A p.(Lys284=) NC_000004.12:122742743:G:A p.(Lys284=) NC_000004.12:122742743:G:A Identity +NM_001081.4:c.5871T>C NP_001072.2:p.Leu1957= NC_000010.11:16937646:A:G p.(Leu1957=) NC_000010.11:16937646:A:G p.(Leu1957=) NC_000010.11:16937646:A:G Identity +NM_001288705.3:c.1512A>G NP_001275634.1:p.Gly504= NC_000005.10:150068328:T:C p.(Gly504=) NC_000005.10:150068328:T:C p.(Gly504=) NC_000005.10:150068328:T:C Identity +NM_001365819.1:c.2950C>T NP_001352748.1:p.Leu984= NC_000022.11:50461178:G:A p.(Leu984=) NC_000022.11:50461178:G:A p.(Leu984=) NC_000022.11:50461178:G:A Identity +LRG_197t1:c.2993_3007dup LRG_197p1:p.Asn1002_Leu1003insArgLeuLeuGlnAsn NC_000001.11:247444802:GCCTCCTGCAGAACC:GCCTCCTGCAGAACCGCCTCCTGCAGAACC ERR:Data provider error: ValueError: Transcript LRG_197t1 not found ERR:Data provider error: ValueError: Transcript LRG_197t1 not found ERR:AlignmentMapper(tx_ac=LRG_197t1, alt_ac=LRG_197t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_197t1, alt_ac=LRG_197t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_197t1 not found +NM_000489.6:c.5325G>A NP_000480.3:p.Glu1775= NC_000023.11:77618928:C:T p.(Glu1775=) NC_000023.11:77618928:C:T p.(Glu1775=) NC_000023.11:77618928:C:T Identity +NM_206933.4:c.10713G>T NP_996816.3:p.Thr3571= NC_000001.11:215782068:C:A p.(Thr3571=) NC_000001.11:215782068:C:A p.(Thr3571=) NC_000001.11:215782068:C:A Identity +NM_001256850.1:c.11323C>T NP_001243779.1:p.Leu3775= NC_000002.12:178740958:G:A p.(Leu3775=) NC_000002.12:178740958:G:A p.(Leu3775=) NC_000002.12:178740958:G:A Identity +NM_030665.4:c.456C>T NP_109590.3:p.Pro152= NC_000017.11:17793403:C:T p.(Pro152=) NC_000017.11:17793403:C:T p.(Pro152=) NC_000017.11:17793403:C:T Identity +NM_000243.3:c.567C>G NP_000234.1:p.Gly189= NC_000016.10:3254500:G:C p.(Gly189=) NC_000016.10:3254500:G:C p.(Gly189=) NC_000016.10:3254500:G:C Identity +NM_001128227.3:c.567G>A NP_001121699.1:p.Val189= NC_000009.12:36246172:C:T p.(Val189=) NC_000009.12:36246172:C:T p.(Val189=) NC_000009.12:36246172:C:T Identity +NM_002439.5:c.2811A>T NP_002430.3:p.Thr937= NC_000005.10:80813738:A:T p.(Thr937=) NC_000005.10:80813738:A:T p.(Thr937=) NC_000005.10:80813738:A:T Identity +NM_001291285.3:c.7611A>G NP_001278214.1:p.Thr2537= NC_000004.12:125448620:A:G p.(Thr2537=) NC_000004.12:125448620:A:G p.(Thr2537=) NC_000004.12:125448620:A:G Identity +NM_001178074.2:c.1638C>T NP_001171545.1:p.Asp546= NC_000012.12:66420763:G:A p.(Asp546=) NC_000012.12:66420763:G:A p.(Asp546=) NC_000012.12:66420763:G:A Identity +NM_001278055.2:c.2667A>G NP_001264984.1:p.Pro889= NC_000013.11:23340767:T:C p.(Pro889=) NC_000013.11:23340767:T:C p.(Pro889=) NC_000013.11:23340767:T:C Identity +NM_000038.6:c.5937C>T NP_000029.2:p.Asn1979= NC_000005.10:112841530:C:T p.(Asn1979=) NC_000005.10:112841530:C:T p.(Asn1979=) NC_000005.10:112841530:C:T Identity +NM_006929.5:c.888C>T NP_008860.4:p.Phe296= NC_000006.12:31961644:C:T p.(Phe296=) NC_000006.12:31961644:C:T p.(Phe296=) NC_000006.12:31961644:C:T Identity +NM_001371411.1:c.516C>G NP_001358340.1:p.Leu172= NC_000002.12:227699198:G:C p.(Leu172=) NC_000002.12:227699198:G:C p.(Leu172=) NC_000002.12:227699198:G:C Identity +NM_001271933.2:c.2007A>G NP_001258862.1:p.Glu669= NC_000011.10:117390839:A:G p.(Glu669=) NC_000011.10:117390839:A:G p.(Glu669=) NC_000011.10:117390839:A:G Identity +NM_001080463.2:c.2502T>C NP_001073932.1:p.Ser834= NC_000011.10:103135875:T:C p.(Ser834=) NC_000011.10:103135875:T:C p.(Ser834=) NC_000011.10:103135875:T:C Identity +NM_001256850.1:c.16020G>T NP_001243779.1:p.Leu5340= NC_000002.12:178731903:C:A p.(Leu5340=) NC_000002.12:178731903:C:A p.(Leu5340=) NC_000002.12:178731903:C:A Identity +NM_001278055.2:c.10026T>G NP_001264984.1:p.Ser3342= NC_000013.11:23333408:A:C p.(Ser3342=) NC_000013.11:23333408:A:C p.(Ser3342=) NC_000013.11:23333408:A:C Identity +NM_000268.4:c.462C>T NP_000259.1:p.Asp154= NC_000022.11:29654670:C:T p.(Asp154=) NC_000022.11:29654670:C:T p.(Asp154=) NC_000022.11:29654670:C:T Identity +NM_001145853.1:c.1059C>A NP_001139325.1:p.Ser353= NC_000004.12:6300853:C:A p.(Ser353=) NC_000004.12:6300853:C:A p.(Ser353=) NC_000004.12:6300853:C:A Identity +NM_001003722.2:c.816T>G NP_001003722.1:p.Leu272= NC_000009.12:128523764:T:G p.(Leu272=) NC_000009.12:128523764:T:G p.(Leu272=) NC_000009.12:128523764:T:G Identity +NM_000920.4:c.3447G>C NP_000911.2:p.Val1149= NC_000011.10:66848988:C:G p.(Val1149=) NC_000011.10:66848988:C:G p.(Val1149=) NC_000011.10:66848988:C:G Identity +NM_000546.6:c.372del NP_000537.3:p.Thr123_Cys124insTer NC_000017.11:7675996:G: p.(Cys124Ter) NC_000017.11:7675996:G: p.(Cys124Ter) NC_000017.11:7675996:G: Analogous +NM_001256560.2:c.412T>C NP_001243489.1:p.Leu138= NC_000003.12:58201040:A:G p.(Leu138=) NC_000003.12:58201040:A:G p.(Leu138=) NC_000003.12:58201040:A:G Identity +NM_001384474.1:c.1419C>A NP_001371403.1:p.Ile473= NC_000018.10:46593611:G:T p.(Ile473=) NC_000018.10:46593611:G:T p.(Ile473=) NC_000018.10:46593611:G:T Identity +NM_002299.4:c.4185G>T NP_002290.2:p.Ala1395= NC_000002.12:135805045:C:A p.(Ala1395=) NC_000002.12:135805045:C:A p.(Ala1395=) NC_000002.12:135805045:C:A Identity +NM_000162.5:c.657G>A NP_000153.1:p.Gln219= NC_000007.14:44149781:C:T p.(Gln219=) NC_000007.14:44149781:C:T p.(Gln219=) NC_000007.14:44149781:C:T Identity +NM_001291593.2:c.1479T>C NP_001278522.1:p.Thr493= NC_000001.11:5874899:A:G p.(Thr493=) NC_000001.11:5874899:A:G p.(Thr493=) NC_000001.11:5874899:A:G Identity +NM_000816.3:c.1398C>T NP_000807.2:p.Tyr466= NC_000005.10:162153361:C:T p.(Tyr466=) NC_000005.10:162153361:C:T p.(Tyr466=) NC_000005.10:162153361:C:T Identity +NM_017780.4:c.4779T>C NP_060250.2:p.Arg1593= NC_000008.11:60841980:T:C p.(Arg1593=) NC_000008.11:60841980:T:C p.(Arg1593=) NC_000008.11:60841980:T:C Identity +NM_031935.3:c.6648G>C NP_114141.2:p.Leu2216= NC_000001.11:186053021:G:C p.(Leu2216=) NC_000001.11:186053021:G:C p.(Leu2216=) NC_000001.11:186053021:G:C Identity +NM_001283009.2:c.1461C>G NP_001269938.1:p.Ser487= NC_000020.11:63687749:C:G p.(Ser487=) NC_000020.11:63687749:C:G p.(Ser487=) NC_000020.11:63687749:C:G Identity +NM_006892.4:c.408C>A NP_008823.1:p.Ser136= NC_000020.11:32786602:C:A p.(Ser136=) NC_000020.11:32786602:C:A p.(Ser136=) NC_000020.11:32786602:C:A Identity +NM_001042749.2:c.873A>G NP_001036214.1:p.Gly291= NC_000023.11:124049057:A:G p.(Gly291=) NC_000023.11:124049057:A:G p.(Gly291=) NC_000023.11:124049057:A:G Identity +NM_138477.4:c.2418G>C NP_612486.2:p.Arg806= NC_000015.10:42729351:C:G p.(Arg806=) NC_000015.10:42729351:C:G p.(Arg806=) NC_000015.10:42729351:C:G Identity +NM_000081.4:c.10308T>C NP_000072.2:p.Ala3436= NC_000001.11:235702812:A:G p.(Ala3436=) NC_000001.11:235702812:A:G p.(Ala3436=) NC_000001.11:235702812:A:G Identity +NM_001166496.2:c.732A>G NP_001159968.1:p.Ser244= NC_000001.11:112917673:T:C p.(Ser244=) NC_000001.11:112917673:T:C p.(Ser244=) NC_000001.11:112917673:T:C Identity +NM_003907.3:c.540G>T NP_003898.2:p.Val180= NC_000003.12:184137930:G:T p.(Val180=) NC_000003.12:184137930:G:T p.(Val180=) NC_000003.12:184137930:G:T Identity +NM_000215.4:c.2028C>G NP_000206.2:p.Pro676= NC_000019.10:17835101:G:C p.(Pro676=) NC_000019.10:17835101:G:C p.(Pro676=) NC_000019.10:17835101:G:C Identity +NM_018026.4:c.2502G>A NP_060496.2:p.Arg834= NC_000011.10:66241498:G:A p.(Arg834=) NC_000011.10:66241498:G:A p.(Arg834=) NC_000011.10:66241498:G:A Identity +NM_022047.4:c.852G>A NP_071330.3:p.Lys284= NC_000006.12:35317934:G:A p.(Lys284=) NC_000006.12:35317934:G:A p.(Lys284=) NC_000006.12:35317934:G:A Identity +NM_001256849.1:c.1818G>A NP_001243778.1:p.Leu606= NC_000019.10:50408826:G:A p.(Leu606=) NC_000019.10:50408826:G:A p.(Leu606=) NC_000019.10:50408826:G:A Identity +NM_001999.4:c.3474C>T NP_001990.2:p.Asp1158= NC_000005.10:128338120:G:A p.(Asp1158=) NC_000005.10:128338120:G:A p.(Asp1158=) NC_000005.10:128338120:G:A Identity +NM_000293.3:c.1023A>G NP_000284.1:p.Ser341= NC_000016.10:47589056:A:G p.(Ser341=) NC_000016.10:47589056:A:G p.(Ser341=) NC_000016.10:47589056:A:G Identity +NM_000433.4:c.544C>T NP_000424.2:p.Leu182= NC_000001.11:183573249:G:A p.(Leu182=) NC_000001.11:183573249:G:A p.(Leu182=) NC_000001.11:183573249:G:A Identity +NM_001378454.1:c.786_788dup NP_001365383.1:p.Glu262_Asp263insGlu NC_000002.12:73424448:GAAGA:GAAGAAGA p.(Glu262dup) NC_000002.12:73424448:GAAGA:GAAGAAGA p.(Glu262dup) ERR:SPDI Analogous +NM_004004.6:c.546G>T NP_003995.2:p.Val182= NC_000013.11:20189035:C:A p.(Val182=) NC_000013.11:20189035:C:A p.(Val182=) NC_000013.11:20189035:C:A Identity +NM_001146289.2:c.1551T>C NP_001139761.1:p.Thr517= NC_000001.11:42752291:A:G p.(Thr517=) NC_000001.11:42752291:A:G p.(Thr517=) NC_000001.11:42752291:A:G Identity +NM_001018037.2:c.4755G>A NP_001018047.1:p.Gln1585= NC_000009.12:77317613:G:A p.(Gln1585=) NC_000009.12:77317613:G:A p.(Gln1585=) NC_000009.12:77317613:G:A Identity +NM_007123.6:c.4140C>A NP_009054.6:p.Ile1380= NC_000001.11:216196663:G:T p.(Ile1380=) NC_000001.11:216196663:G:T p.(Ile1380=) NC_000001.11:216196663:G:T Identity +NM_001256182.2:c.1383A>G NP_001243111.1:p.Glu461= NC_000016.10:89285158:T:C p.(Glu461=) NC_000016.10:89285158:T:C p.(Glu461=) NC_000016.10:89285158:T:C Identity +NM_001385907.1:c.2505T>G NP_001372836.1:p.Ala835= NC_000009.12:32457388:A:C p.(Ala835=) NC_000009.12:32457388:A:C p.(Ala835=) NC_000009.12:32457388:A:C Identity +NM_001170794.2:c.1134G>A NP_001164265.1:p.Gln378= NC_000006.12:89950971:C:T p.(Gln378=) NC_000006.12:89950971:C:T p.(Gln378=) NC_000006.12:89950971:C:T Identity +NM_005148.4:c.105C>G NP_005139.1:p.Ser35= NC_000017.11:28552452:G:C p.(Ser35=) NC_000017.11:28552452:G:C p.(Ser35=) NC_000017.11:28552452:G:C Identity +NM_003737.4:c.8233C>T NP_003728.1:p.Leu2745= NC_000011.10:6623442:G:A p.(Leu2745=) NC_000011.10:6623442:G:A p.(Leu2745=) NC_000011.10:6623442:G:A Identity +NM_001466.4:c.483C>G NP_001457.1:p.Pro161= NC_000017.11:44558170:C:G p.(Pro161=) NC_000017.11:44558170:C:G p.(Pro161=) NC_000017.11:44558170:C:G Identity +NM_000536.4:c.1368T>G NP_000527.2:p.Ala456= NC_000011.10:36592800:A:C p.(Ala456=) NC_000011.10:36592800:A:C p.(Ala456=) NC_000011.10:36592800:A:C Identity +NM_153281.2:c.825T>G NP_695013.1:p.Ala275= NC_000003.12:50302131:A:C p.(Ala275=) NC_000003.12:50302131:A:C p.(Ala275=) NC_000003.12:50302131:A:C Identity +NM_206933.4:c.8505A>T NP_996816.3:p.Ser2835= NC_000001.11:215878816:T:A p.(Ser2835=) NC_000001.11:215878816:T:A p.(Ser2835=) NC_000001.11:215878816:T:A Identity +NM_001197104.2:c.11454A>G NP_001184033.1:p.Pro3818= NC_000011.10:118520825:A:G p.(Pro3818=) NC_000011.10:118520825:A:G p.(Pro3818=) NC_000011.10:118520825:A:G Identity +NM_001008707.2:c.1092G>A NP_001008707.1:p.Val364= NC_000014.9:99907663:G:A p.(Val364=) NC_000014.9:99907663:G:A p.(Val364=) NC_000014.9:99907663:G:A Identity +NM_000495.5:c.138A>G NP_000486.1:p.Glu46= NC_000023.11:108539801:A:G p.(Glu46=) NC_000023.11:108539801:A:G p.(Glu46=) NC_000023.11:108539801:A:G Identity +NM_001256850.1:c.20100A>T NP_001243779.1:p.Thr6700= NC_000002.12:178724323:T:A p.(Thr6700=) NC_000002.12:178724323:T:A p.(Thr6700=) NC_000002.12:178724323:T:A Identity +NM_000489.6:c.6000C>T NP_000480.3:p.Asp2000= NC_000023.11:77593805:G:A p.(Asp2000=) NC_000023.11:77593805:G:A p.(Asp2000=) NC_000023.11:77593805:G:A Identity +NM_006766.5:c.5577C>G NP_006757.2:p.Ser1859= NC_000008.11:41932642:G:C p.(Ser1859=) NC_000008.11:41932642:G:C p.(Ser1859=) NC_000008.11:41932642:G:C Identity +NM_001291902.2:c.87G>A NP_001278831.1:p.Gly29= NC_000011.10:68406551:G:A p.(Gly29=) NC_000011.10:68406551:G:A p.(Gly29=) NC_000011.10:68406551:G:A Identity +NM_000092.5:c.3210T>A NP_000083.3:p.Pro1070= NC_000002.12:227050071:A:T p.(Pro1070=) NC_000002.12:227050071:A:T p.(Pro1070=) NC_000002.12:227050071:A:T Identity +NM_000057.4:c.4176C>T NP_000048.1:p.Ala1392= NC_000015.10:90815200:C:T p.(Ala1392=) NC_000015.10:90815200:C:T p.(Ala1392=) NC_000015.10:90815200:C:T Identity +NM_003742.4:c.2323T>C NP_003733.2:p.Leu775= NC_000002.12:168957983:A:G p.(Leu775=) NC_000002.12:168957983:A:G p.(Leu775=) NC_000002.12:168957983:A:G Identity +NM_001023.4:c.9T>C NP_001014.1:p.Phe3= NC_000008.11:56074153:A:G p.(Phe3=) NC_000008.11:56074153:A:G p.(Phe3=) NC_000008.11:56074153:A:G Identity +NM_001363520.3:c.1035G>A NP_001350449.1:p.Pro345= NC_000004.12:127921637:C:T p.(Pro345=) NC_000004.12:127921637:C:T p.(Pro345=) NC_000004.12:127921637:C:T Identity +NM_000284.4:c.21C>G NP_000275.1:p.Ala7= NC_000023.11:19344057:C:G p.(Ala7=) NC_000023.11:19344057:C:G p.(Ala7=) NC_000023.11:19344057:C:G Identity +NM_001271999.2:c.153T>C NP_001258928.1:p.Leu51= NC_000001.11:62654150:A:G p.(Leu51=) NC_000001.11:62654150:A:G p.(Leu51=) NC_000001.11:62654150:A:G Identity +NM_153603.4:c.1575C>T NP_705831.1:p.Ala525= NC_000016.10:23406162:G:A p.(Ala525=) NC_000016.10:23406162:G:A p.(Ala525=) NC_000016.10:23406162:G:A Identity +NM_001029883.3:c.2910C>T NP_001025054.1:p.Asn970= NC_000002.12:29071351:G:A p.(Asn970=) NC_000002.12:29071351:G:A p.(Asn970=) NC_000002.12:29071351:G:A Identity +NM_001256850.1:c.51927G>T NP_001243779.1:p.Val17309= NC_000002.12:178598859:C:A p.(Val17309=) NC_000002.12:178598859:C:A p.(Val17309=) NC_000002.12:178598859:C:A Identity +NM_000263.4:c.1296C>T NP_000254.2:p.Leu432= NC_000017.11:42543301:C:T p.(Leu432=) NC_000017.11:42543301:C:T p.(Leu432=) NC_000017.11:42543301:C:T Identity +NM_000720.4:c.4497T>C NP_000711.1:p.Pro1499= NC_000003.12:53776676:T:C p.(Pro1499=) NC_000003.12:53776676:T:C p.(Pro1499=) NC_000003.12:53776676:T:C Identity +NM_001195794.1:c.567T>C NP_001182723.1:p.Tyr189= NC_000003.12:150928106:A:G p.(Tyr189=) NC_000003.12:150928106:A:G p.(Tyr189=) NC_000003.12:150928106:A:G Identity +NM_003954.5:c.1569G>T NP_003945.2:p.Leu523= NC_000017.11:45273590:C:A p.(Leu523=) NC_000017.11:45273590:C:A p.(Leu523=) NC_000017.11:45273590:C:A Identity +NM_015692.5:c.588C>T NP_056507.3:p.Ser196= NC_000019.10:17004357:G:A p.(Ser196=) NC_000019.10:17004357:G:A p.(Ser196=) NC_000019.10:17004357:G:A Identity +NM_001031696.4:c.1071C>T NP_001026866.1:p.Gly357= NC_000019.10:40376659:C:T p.(Gly357=) NC_000019.10:40376659:C:T p.(Gly357=) NC_000019.10:40376659:C:T Identity +NM_001411067.1:c.1242G>C NP_001397996.1:p.Gly414= NC_000017.11:8235249:C:G p.(Gly414=) NC_000017.11:8235249:C:G p.(Gly414=) NC_000017.11:8235249:C:G Identity +NM_021942.6:c.609G>A NP_068761.4:p.Glu203= NC_000004.12:183674760:G:A p.(Glu203=) NC_000004.12:183674760:G:A p.(Glu203=) NC_000004.12:183674760:G:A Identity +NM_001304482.2:c.2178G>A NP_001291411.1:p.Gly726= NC_000003.12:47410353:G:A p.(Gly726=) NC_000003.12:47410353:G:A p.(Gly726=) NC_000003.12:47410353:G:A Identity +NM_020533.3:c.810G>T NP_065394.1:p.Arg270= NC_000019.10:7528189:G:T p.(Arg270=) NC_000019.10:7528189:G:T p.(Arg270=) NC_000019.10:7528189:G:T Identity +NM_001379200.1:c.1074G>C NP_001366129.1:p.Ala358= NC_000022.11:19766425:G:C p.(Ala358=) NC_000022.11:19766425:G:C p.(Ala358=) NC_000022.11:19766425:G:C Identity +NM_002900.3:c.2928C>T NP_002891.1:p.Thr976= NC_000010.11:47351411:C:T p.(Thr976=) NC_000010.11:47351411:C:T p.(Thr976=) NC_000010.11:47351411:C:T Identity +NM_001285829.2:c.594G>C NP_001272758.1:p.Leu198= NC_000019.10:33301463:C:G p.(Leu198=) NC_000019.10:33301463:C:G p.(Leu198=) NC_000019.10:33301463:C:G Identity +NM_001321378.2:c.1068A>G NP_001308307.1:p.Lys356= NC_000011.10:17155626:T:C p.(Lys356=) NC_000011.10:17155626:T:C p.(Lys356=) NC_000011.10:17155626:T:C Identity +NM_001281737.2:c.39G>A NP_001268666.1:p.Val13= NC_000004.12:158682198:G:A p.(Val13=) NC_000004.12:158682198:G:A p.(Val13=) NC_000004.12:158682198:G:A Identity +NM_003801.4:c.1128C>A NP_003792.1:p.Pro376= NC_000008.11:144084838:C:A p.(Pro376=) NC_000008.11:144084838:C:A p.(Pro376=) NC_000008.11:144084838:C:A Identity +NM_012282.4:c.351G>A NP_036414.1:p.Ala117= NC_000023.11:109624669:C:T p.(Ala117=) NC_000023.11:109624669:C:T p.(Ala117=) NC_000023.11:109624669:C:T Identity +NM_000237.3:c.1182C>T NP_000228.1:p.Tyr394= NC_000008.11:19960942:C:T p.(Tyr394=) NC_000008.11:19960942:C:T p.(Tyr394=) NC_000008.11:19960942:C:T Identity +NM_000941.3:c.852G>A NP_000932.3:p.Pro284= NC_000007.14:75983540:G:A ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.3 not found +NM_001291494.2:c.24T>C NP_001278423.1:p.Gly8= NC_000010.11:15719747:A:G p.(Gly8=) NC_000010.11:15719747:A:G p.(Gly8=) NC_000010.11:15719747:A:G Identity +NM_001244808.3:c.1236C>T NP_001231737.1:p.Ala412= NC_000003.12:70977939:G:A p.(Ala412=) NC_000003.12:70977939:G:A p.(Ala412=) NC_000003.12:70977939:G:A Identity +NM_001363671.2:c.315C>T NP_001350600.1:p.Gly105= NC_000007.14:100102902:C:T p.(Gly105=) NC_000007.14:100102902:C:T p.(Gly105=) NC_000007.14:100102902:C:T Identity +NM_000295.5:c.891C>G NP_000286.3:p.Thr297= NC_000014.9:94380896:G:C p.(Thr297=) NC_000014.9:94380896:G:C p.(Thr297=) NC_000014.9:94380896:G:C Identity +NM_001320867.2:c.588G>A NP_001307796.1:p.Glu196= NC_000019.10:43508034:C:T p.(Glu196=) NC_000019.10:43508034:C:T p.(Glu196=) NC_000019.10:43508034:C:T Identity +NM_007129.5:c.601C>A NP_009060.2:p.Arg201= NC_000013.11:99982664:C:A p.(Arg201=) NC_000013.11:99982664:C:A p.(Arg201=) NC_000013.11:99982664:C:A Identity +NM_000033.4:c.573C>A NP_000024.2:p.Arg191= NC_000023.11:153725838:C:A p.(Arg191=) NC_000023.11:153725838:C:A p.(Arg191=) NC_000023.11:153725838:C:A Identity +NM_001351273.1:c.4488C>T NP_001338202.1:p.Cys1496= NC_000019.10:1467791:C:T p.(Cys1496=) NC_000019.10:1467791:C:T p.(Cys1496=) NC_000019.10:1467791:C:T Identity +NM_001013840.1:c.216T>C NP_001013862.1:p.Thr72= NC_000010.11:95693737:A:G ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found +NM_000081.4:c.5775T>C NP_000072.2:p.Ser1925= NC_000001.11:235773850:A:G p.(Ser1925=) NC_000001.11:235773850:A:G p.(Ser1925=) NC_000001.11:235773850:A:G Identity +NM_152365.3:c.1167G>A NP_689578.2:p.Ser389= NC_000001.11:26950098:C:T p.(Ser389=) NC_000001.11:26950098:C:T p.(Ser389=) NC_000001.11:26950098:C:T Identity +NM_001127218.3:c.336C>T NP_001120690.1:p.Ser112= NC_000007.14:44117948:G:A p.(Ser112=) NC_000007.14:44117948:G:A p.(Ser112=) NC_000007.14:44117948:G:A Identity +NM_001367321.1:c.774C>T NP_001354250.1:p.Ile258= NC_000003.12:3146594:C:T p.(Ile258=) NC_000003.12:3146594:C:T p.(Ile258=) NC_000003.12:3146594:C:T Identity +NM_001193640.2:c.1842C>A NP_001180569.1:p.Ile614= NC_000001.11:197427502:C:A p.(Ile614=) NC_000001.11:197427502:C:A p.(Ile614=) NC_000001.11:197427502:C:A Identity +NM_001291285.3:c.7611A>T NP_001278214.1:p.Thr2537= NC_000004.12:125448620:A:T p.(Thr2537=) NC_000004.12:125448620:A:T p.(Thr2537=) NC_000004.12:125448620:A:T Identity +NM_017947.4:c.2214G>A NP_060417.4:p.Gln738= NC_000018.10:36257016:G:A p.(Gln738=) NC_000018.10:36257016:G:A p.(Gln738=) NC_000018.10:36257016:G:A Identity +NM_001130823.3:c.4269C>A NP_001124295.1:p.Pro1423= NC_000019.10:10137855:G:T p.(Pro1423=) NC_000019.10:10137855:G:T p.(Pro1423=) NC_000019.10:10137855:G:T Identity +NM_000370.3:c.105C>T NP_000361.1:p.Ala35= NC_000008.11:63085916:G:A p.(Ala35=) NC_000008.11:63085916:G:A p.(Ala35=) NC_000008.11:63085916:G:A Identity +NM_000264.5:c.4305G>A NP_000255.2:p.Val1435= NC_000009.12:95446950:C:T p.(Val1435=) NC_000009.12:95446950:C:T p.(Val1435=) NC_000009.12:95446950:C:T Identity +NM_032888.4:c.18G>A NP_116277.2:p.Ala6= NC_000009.12:114155967:G:A p.(Ala6=) NC_000009.12:114155967:G:A p.(Ala6=) NC_000009.12:114155967:G:A Identity +NM_000445.5:c.2649C>T NP_000436.2:p.Phe883= NC_000008.11:143930187:G:A p.(Phe883=) NC_000008.11:143930187:G:A p.(Phe883=) NC_000008.11:143930187:G:A Identity +NM_001374299.1:c.3129A>G NP_001361228.1:p.Thr1043= NC_000009.12:92240934:T:C p.(Thr1043=) NC_000009.12:92240934:T:C p.(Thr1043=) NC_000009.12:92240934:T:C Identity +NM_001199216.2:c.753C>T NP_001186145.1:p.Asp251= NC_000019.10:35300261:C:T p.(Asp251=) NC_000019.10:35300261:C:T p.(Asp251=) NC_000019.10:35300261:C:T Identity +NM_001164617.2:c.255A>C NP_001158089.1:p.Ala85= NC_000023.11:133953131:T:G p.(Ala85=) NC_000023.11:133953131:T:G p.(Ala85=) NC_000023.11:133953131:T:G Identity +NM_000360.4:c.1044G>T NP_000351.2:p.Ser348= NC_000011.10:2166482:C:A p.(Ser348=) NC_000011.10:2166482:C:A p.(Ser348=) NC_000011.10:2166482:C:A Identity +NM_014639.4:c.3939C>T NP_055454.1:p.Asp1313= NC_000005.10:95484837:G:A p.(Asp1313=) NC_000005.10:95484837:G:A p.(Asp1313=) NC_000005.10:95484837:G:A Identity +NM_001042681.2:c.4068C>T NP_001036146.1:p.Pro1356= NC_000001.11:8358466:G:A p.(Pro1356=) NC_000001.11:8358466:G:A p.(Pro1356=) NC_000001.11:8358466:G:A Identity +NM_001256182.2:c.7956C>T NP_001243111.1:p.Val2652= NC_000016.10:89268513:G:A p.(Val2652=) NC_000016.10:89268513:G:A p.(Val2652=) NC_000016.10:89268513:G:A Identity +NM_001330384.2:c.1110C>T NP_001317313.1:p.Ala370= NC_000019.10:15264505:G:A p.(Ala370=) NC_000019.10:15264505:G:A p.(Ala370=) NC_000019.10:15264505:G:A Identity +NM_001291088.2:c.18C>T NP_001278017.1:p.Leu6= NC_000019.10:37898221:G:A p.(Leu6=) NC_000019.10:37898221:G:A p.(Leu6=) NC_000019.10:37898221:G:A Identity +NM_012082.4:c.90G>A NP_036214.2:p.Glu30= NC_000008.11:105419192:G:A p.(Glu30=) NC_000008.11:105419192:G:A p.(Glu30=) NC_000008.11:105419192:G:A Identity +NM_001281532.3:c.57C>T NP_001268461.1:p.Tyr19= NC_000019.10:35745986:C:T p.(Tyr19=) NC_000019.10:35745986:C:T p.(Tyr19=) NC_000019.10:35745986:C:T Identity +NM_001105206.3:c.489A>G NP_001098676.2:p.Gly163= NC_000006.12:112201621:T:C p.(Gly163=) NC_000006.12:112201621:T:C p.(Gly163=) NC_000006.12:112201621:T:C Identity +NM_001293306.2:c.640C>T NP_001280235.2:p.Leu214= NC_000003.12:38763555:G:A p.(Leu214=) NC_000003.12:38763555:G:A p.(Leu214=) NC_000003.12:38763555:G:A Identity +NM_001363823.2:c.1846T>C NP_001350752.1:p.Ter616Gln NC_000002.12:32154493:T:C p.(Ter616GlnextTer46) NC_000002.12:32154493:T:C p.(Ter616GlnextTer46) NC_000002.12:32154493:T:C Analogous +NM_001172818.1:c.315T>C NP_001166289.1:p.Val105= NC_000001.11:63629438:T:C p.(Val105=) NC_000001.11:63629438:T:C p.(Val105=) NC_000001.11:63629438:T:C Identity +NM_001364858.1:c.1218A>G NP_001351787.1:p.Ala406= NC_000007.14:4788929:A:G p.(Ala406=) NC_000007.14:4788929:A:G p.(Ala406=) NC_000007.14:4788929:A:G Identity +NM_001127198.5:c.1725C>T NP_001120670.1:p.Ser575= NC_000017.11:78119382:G:A p.(Ser575=) NC_000017.11:78119382:G:A p.(Ser575=) NC_000017.11:78119382:G:A Identity +NM_001165036.2:c.2364C>T NP_001158508.1:p.Ser788= NC_000007.14:44698208:C:T p.(Ser788=) NC_000007.14:44698208:C:T p.(Ser788=) NC_000007.14:44698208:C:T Identity +NM_004523.4:c.105T>C NP_004514.2:p.Ala35= NC_000010.11:92606291:T:C p.(Ala35=) NC_000010.11:92606291:T:C p.(Ala35=) NC_000010.11:92606291:T:C Identity +NM_001368062.3:c.6477C>T NP_001354991.2:p.Tyr2159= NC_000012.12:80368305:C:T p.(Tyr2159=) NC_000012.12:80368305:C:T p.(Tyr2159=) NC_000012.12:80368305:C:T Identity +NM_001321851.1:c.5751T>C NP_001308780.1:p.Asp1917= NC_000014.9:91969858:A:G p.(Asp1917=) NC_000014.9:91969858:A:G p.(Asp1917=) NC_000014.9:91969858:A:G Identity +NM_018713.3:c.96C>A NP_061183.2:p.Gly32= NC_000001.11:219928344:G:T p.(Gly32=) NC_000001.11:219928344:G:T p.(Gly32=) NC_000001.11:219928344:G:T Identity +NM_005245.4:c.669C>T NP_005236.2:p.Leu223= NC_000004.12:186709158:G:A p.(Leu223=) NC_000004.12:186709158:G:A p.(Leu223=) NC_000004.12:186709158:G:A Identity +NM_001278055.2:c.13026C>T NP_001264984.1:p.Asp4342= NC_000013.11:23330408:G:A p.(Asp4342=) NC_000013.11:23330408:G:A p.(Asp4342=) NC_000013.11:23330408:G:A Identity +NM_000068.4:c.3982C>T NP_000059.3:p.Leu1328= NC_000019.10:13275868:G:A p.(Leu1328=) NC_000019.10:13275868:G:A p.(Leu1328=) NC_000019.10:13275868:G:A Identity +NM_001282237.2:c.561G>A NP_001269166.1:p.Ala187= NC_000014.9:99231420:C:T p.(Ala187=) NC_000014.9:99231420:C:T p.(Ala187=) NC_000014.9:99231420:C:T Identity +NM_003737.4:c.7500T>G NP_003728.1:p.Thr2500= NC_000011.10:6624175:A:C p.(Thr2500=) NC_000011.10:6624175:A:C p.(Thr2500=) NC_000011.10:6624175:A:C Identity +NM_001278055.2:c.1140A>G NP_001264984.1:p.Ser380= NC_000013.11:23355030:T:C p.(Ser380=) NC_000013.11:23355030:T:C p.(Ser380=) NC_000013.11:23355030:T:C Identity +NM_001378454.1:c.10932C>A NP_001365383.1:p.Leu3644= NC_000002.12:73572808:C:A p.(Leu3644=) NC_000002.12:73572808:C:A p.(Leu3644=) NC_000002.12:73572808:C:A Identity +NM_001384732.1:c.3105T>C NP_001371661.1:p.Gly1035= NC_000005.10:37206240:A:G p.(Gly1035=) NC_000005.10:37206240:A:G p.(Gly1035=) NC_000005.10:37206240:A:G Identity +NM_000289.6:c.1314T>C NP_000280.1:p.Asp438= NC_000012.12:48140843:T:C p.(Asp438=) NC_000012.12:48140843:T:C p.(Asp438=) NC_000012.12:48140843:T:C Identity +NM_000540.3:c.11823C>T NP_000531.2:p.Val3941= NC_000019.10:38543575:C:T p.(Val3941=) NC_000019.10:38543575:C:T p.(Val3941=) NC_000019.10:38543575:C:T Identity +NM_001410858.1:c.573G>A NP_001397787.1:p.Val191= NC_000018.10:45954828:C:T p.(Val191=) NC_000018.10:45954828:C:T p.(Val191=) NC_000018.10:45954828:C:T Identity +NM_001355016.2:c.2934C>A NP_001341945.1:p.Pro978= NC_000005.10:150117628:G:T p.(Pro978=) NC_000005.10:150117628:G:T p.(Pro978=) NC_000005.10:150117628:G:T Identity +NM_001257096.2:c.942C>G NP_001244025.1:p.Thr314= NC_000020.11:21708582:C:G p.(Thr314=) NC_000020.11:21708582:C:G p.(Thr314=) NC_000020.11:21708582:C:G Identity +NM_000908.4:c.1080A>G NP_000899.1:p.Gly360= NC_000005.10:32774727:A:G p.(Gly360=) NC_000005.10:32774727:A:G p.(Gly360=) NC_000005.10:32774727:A:G Identity +NM_001079812.3:c.2079C>T NP_001073280.1:p.Pro693= NC_000005.10:141573743:G:A p.(Pro693=) NC_000005.10:141573743:G:A p.(Pro693=) NC_000005.10:141573743:G:A Identity +NM_001261826.3:c.2295C>T NP_001248755.1:p.Asp765= NC_000019.10:2115272:G:A p.(Asp765=) NC_000019.10:2115272:G:A p.(Asp765=) NC_000019.10:2115272:G:A Identity +NM_000334.4:c.2667G>A NP_000325.4:p.Lys889= NC_000017.11:63951609:C:T p.(Lys889=) NC_000017.11:63951609:C:T p.(Lys889=) NC_000017.11:63951609:C:T Identity +NM_005560.6:c.6636C>T NP_005551.3:p.Ile2212= NC_000020.11:62320750:G:A p.(Ile2212=) NC_000020.11:62320750:G:A p.(Ile2212=) NC_000020.11:62320750:G:A Identity +NM_001379291.1:c.2841C>T NP_001366220.1:p.Ser947= NC_000019.10:15243227:G:A p.(Ser947=) NC_000019.10:15243227:G:A p.(Ser947=) NC_000019.10:15243227:G:A Identity +NM_001447.3:c.3009T>C NP_001438.1:p.Asp1003= NC_000005.10:151565922:A:G p.(Asp1003=) NC_000005.10:151565922:A:G p.(Asp1003=) NC_000005.10:151565922:A:G Identity +NM_000252.3:c.495A>G NP_000243.1:p.Thr165= NC_000023.11:150638992:A:G p.(Thr165=) NC_000023.11:150638992:A:G p.(Thr165=) NC_000023.11:150638992:A:G Identity +NM_001166111.2:c.1428C>G NP_001159583.1:p.Ala476= NC_000019.10:7542798:C:G p.(Ala476=) NC_000019.10:7542798:C:G p.(Ala476=) NC_000019.10:7542798:C:G Identity +NM_001042494.2:c.873T>C NP_001035959.1:p.Cys291= NC_000015.10:34254415:A:G p.(Cys291=) NC_000015.10:34254415:A:G p.(Cys291=) NC_000015.10:34254415:A:G Identity +NM_001160147.2:c.756G>A NP_001153619.1:p.Val252= NC_000014.9:53152342:C:T p.(Val252=) NC_000014.9:53152342:C:T p.(Val252=) NC_000014.9:53152342:C:T Identity +NM_000425.5:c.756G>C NP_000416.1:p.Leu252= NC_000023.11:153870437:C:G p.(Leu252=) NC_000023.11:153870437:C:G p.(Leu252=) NC_000023.11:153870437:C:G Identity +NM_001409301.1:c.2805T>C NP_001396230.1:p.Ser935= NC_000005.10:177211203:T:C p.(Ser935=) NC_000005.10:177211203:T:C p.(Ser935=) NC_000005.10:177211203:T:C Identity +NM_001145468.4:c.642C>T NP_001138940.4:p.Gly214= NC_000022.11:24321621:C:T p.(Gly214=) NC_000022.11:24321621:C:T p.(Gly214=) NC_000022.11:24321621:C:T Identity +NM_000030.3:c.858C>T NP_000021.1:p.Asn286= NC_000002.12:240877547:C:T p.(Asn286=) NC_000002.12:240877547:C:T p.(Asn286=) NC_000002.12:240877547:C:T Identity +NM_000921.5:c.246C>T NP_000912.3:p.Arg82= NC_000012.12:20369529:C:T p.(Arg82=) NC_000012.12:20369529:C:T p.(Arg82=) NC_000012.12:20369529:C:T Identity +NM_005554.4:c.1269C>T NP_005545.1:p.Ala423= NC_000012.12:52488482:G:A p.(Ala423=) NC_000012.12:52488482:G:A p.(Ala423=) NC_000012.12:52488482:G:A Identity +NM_000124.4:c.1308T>A NP_000115.1:p.Ala436= NC_000010.11:49524121:A:T p.(Ala436=) NC_000010.11:49524121:A:T p.(Ala436=) NC_000010.11:49524121:A:T Identity +NM_001379141.1:c.2700C>T NP_001366070.1:p.Asp900= NC_000018.10:44952039:C:T p.(Asp900=) NC_000018.10:44952039:C:T p.(Asp900=) NC_000018.10:44952039:C:T Identity +NM_001286075.2:c.1917C>T NP_001273004.1:p.Leu639= NC_000016.10:28902053:C:T p.(Leu639=) NC_000016.10:28902053:C:T p.(Leu639=) NC_000016.10:28902053:C:T Identity +NM_001172643.1:c.306G>A NP_001166114.1:p.Glu102= NC_000016.10:66529043:C:T p.(Glu102=) NC_000016.10:66529043:C:T p.(Glu102=) NC_000016.10:66529043:C:T Identity +NM_017791.3:c.180_197del NP_060261.2:p.Gln60_Ala65del NC_000014.9:75579149:CAACCCAGTGGCTTGGCTCA:CA p.(Gln60_Ala65del) NC_000014.9:75579149:CAACCCAGTGGCTTGGCTCA:CA p.(Gln60_Ala65del) NC_000014.9:75579151:ACCCAGTGGCTTGGCTCA: Identity +NM_021619.3:c.897C>T NP_067632.2:p.Tyr299= NC_000009.12:130681461:C:T p.(Tyr299=) NC_000009.12:130681461:C:T p.(Tyr299=) NC_000009.12:130681461:C:T Identity +NM_033071.5:c.1644A>G NP_149062.2:p.Gln548= NC_000006.12:152471605:T:C p.(Gln548=) NC_000006.12:152471605:T:C p.(Gln548=) NC_000006.12:152471605:T:C Identity +NM_001271052.1:c.1242G>C NP_001257981.1:p.Leu414= NC_000019.10:14755827:C:G p.(Leu414=) NC_000019.10:14755827:C:G p.(Leu414=) NC_000019.10:14755827:C:G Identity +NM_001276479.2:c.1788C>T NP_001263408.1:p.Gly596= NC_000019.10:5696086:G:A p.(Gly596=) NC_000019.10:5696086:G:A p.(Gly596=) NC_000019.10:5696086:G:A Identity +NM_001305942.2:c.192C>A NP_001292871.2:p.Pro64= NC_000009.12:128323136:C:A p.(Pro64=) NC_000009.12:128323136:C:A p.(Pro64=) NC_000009.12:128323136:C:A Identity +NM_000528.4:c.2097G>A NP_000519.2:p.Gln699= NC_000019.10:12650171:C:T p.(Gln699=) NC_000019.10:12650171:C:T p.(Gln699=) NC_000019.10:12650171:C:T Identity +NM_001358921.2:c.669T>C NP_001345850.1:p.Ala223= NC_000004.12:83269952:A:G p.(Ala223=) NC_000004.12:83269952:A:G p.(Ala223=) NC_000004.12:83269952:A:G Identity +NM_002470.4:c.3687C>T NP_002461.2:p.Ile1229= NC_000017.11:10638084:G:A p.(Ile1229=) NC_000017.11:10638084:G:A p.(Ile1229=) NC_000017.11:10638084:G:A Identity +NM_030773.4:c.435C>T NP_110400.1:p.Ser145= NC_000020.11:59023861:C:T p.(Ser145=) NC_000020.11:59023861:C:T p.(Ser145=) NC_000020.11:59023861:C:T Identity +NM_001378226.1:c.303T>C NP_001365155.1:p.Ser101= NC_000001.11:119045638:A:G p.(Ser101=) NC_000001.11:119045638:A:G p.(Ser101=) NC_000001.11:119045638:A:G Identity +NM_005257.6:c.918C>G NP_005248.2:p.Arg306= NC_000018.10:22172061:C:G p.(Arg306=) NC_000018.10:22172061:C:G p.(Arg306=) NC_000018.10:22172061:C:G Identity +NM_001164821.2:c.549A>G NP_001158293.1:p.Gln183= NC_000002.12:171453134:A:G p.(Gln183=) NC_000002.12:171453134:A:G p.(Gln183=) NC_000002.12:171453134:A:G Identity +NM_001141973.3:c.327T>C NP_001135445.1:p.Thr109= NC_000001.11:17005033:A:G p.(Thr109=) NC_000001.11:17005033:A:G p.(Thr109=) NC_000001.11:17005033:A:G Identity +NM_001098268.2:c.1092T>C NP_001091738.1:p.Tyr364= NC_000013.11:108210176:A:G p.(Tyr364=) NC_000013.11:108210176:A:G p.(Tyr364=) NC_000013.11:108210176:A:G Identity +NM_001271620.2:c.1206G>A NP_001258549.1:p.Lys402= NC_000016.10:49637765:C:T p.(Lys402=) NC_000016.10:49637765:C:T p.(Lys402=) NC_000016.10:49637765:C:T Identity +NM_001178145.3:c.864C>T NP_001171616.2:p.Ala288= NC_000003.12:151437633:G:A p.(Ala288=) NC_000003.12:151437633:G:A p.(Ala288=) NC_000003.12:151437633:G:A Identity +NM_003496.4:c.9129C>T NP_003487.1:p.Ile3043= NC_000007.14:98984273:C:T p.(Ile3043=) NC_000007.14:98984273:C:T p.(Ile3043=) NC_000007.14:98984273:C:T Identity +NM_001242795.2:c.1041G>A NP_001229724.1:p.Ala347= NC_000016.10:56833278:G:A p.(Ala347=) NC_000016.10:56833278:G:A p.(Ala347=) NC_000016.10:56833278:G:A Identity +NM_003924.4:c.735G>T NP_003915.2:p.Ala245= NC_000004.12:41746016:C:A p.(Ala245=) NC_000004.12:41746016:C:A p.(Ala245=) NC_000004.12:41746016:C:A Identity +NM_001037131.3:c.996C>A NP_001032208.1:p.Gly332= NC_000002.12:235807276:C:A p.(Gly332=) NC_000002.12:235807276:C:A p.(Gly332=) NC_000002.12:235807276:C:A Identity +NM_001127649.3:c.75G>A NP_001121121.1:p.Val25= NC_000022.11:18078450:G:A p.(Val25=) NC_000022.11:18078450:G:A p.(Val25=) NC_000022.11:18078450:G:A Identity +NM_001017423.2:c.648C>A NP_001017423.1:p.Val216= NC_000010.11:95633559:G:T p.(Val216=) NC_000010.11:95633559:G:T p.(Val216=) NC_000010.11:95633559:G:T Identity +NM_001127671.2:c.45G>A NP_001121143.1:p.Val15= NC_000005.10:38530602:C:T p.(Val15=) NC_000005.10:38530602:C:T p.(Val15=) NC_000005.10:38530602:C:T Identity +NM_003823.4:c.165C>T NP_003814.1:p.Gly55= NC_000020.11:63696931:C:T p.(Gly55=) NC_000020.11:63696931:C:T p.(Gly55=) NC_000020.11:63696931:C:T Identity +NM_001281463.1:c.2856A>G NP_001268392.1:p.Ala952= NC_000023.11:53394828:T:C p.(Ala952=) NC_000023.11:53394828:T:C p.(Ala952=) NC_000023.11:53394828:T:C Identity +NM_001033604.2:c.540G>A NP_001028776.1:p.Leu180= NC_000007.14:33257332:G:A p.(Leu180=) NC_000007.14:33257332:G:A p.(Leu180=) NC_000007.14:33257332:G:A Identity +NM_001318520.2:c.2856T>C NP_001305449.1:p.Asn952= NC_000018.10:70030930:A:G p.(Asn952=) NC_000018.10:70030930:A:G p.(Asn952=) NC_000018.10:70030930:A:G Identity +NM_001077365.2:c.996C>T NP_001070833.1:p.Asn332= NC_000009.12:131512049:C:T p.(Asn332=) NC_000009.12:131512049:C:T p.(Asn332=) NC_000009.12:131512049:C:T Identity +NM_145290.4:c.1545G>T NP_660333.2:p.Val515= NC_000004.12:22424250:C:A p.(Val515=) NC_000004.12:22424250:C:A p.(Val515=) NC_000004.12:22424250:C:A Identity +NM_080679.3:c.4392C>T NP_542410.2:p.Cys1464= NC_000006.12:33165585:G:A p.(Cys1464=) NC_000006.12:33165585:G:A p.(Cys1464=) NC_000006.12:33165585:G:A Identity +NM_015180.6:c.5208A>C NP_055995.4:p.Gly1736= NC_000014.9:64021370:A:C p.(Gly1736=) NC_000014.9:64021370:A:C p.(Gly1736=) NC_000014.9:64021370:A:C Identity +NM_001300810.1:c.531G>A NP_001287739.1:p.Glu177= NC_000012.12:52362381:C:T p.(Glu177=) NC_000012.12:52362381:C:T p.(Glu177=) NC_000012.12:52362381:C:T Identity +NM_001042413.2:c.2010A>G NP_001035878.1:p.Pro670= NC_000009.12:3898808:T:C p.(Pro670=) NC_000009.12:3898808:T:C p.(Pro670=) NC_000009.12:3898808:T:C Identity +NM_001376.5:c.13077G>A NP_001367.2:p.Glu4359= NC_000014.9:102047886:G:A p.(Glu4359=) NC_000014.9:102047886:G:A p.(Glu4359=) NC_000014.9:102047886:G:A Identity +NM_024408.4:c.7323C>A NP_077719.2:p.Thr2441= NC_000001.11:119915398:G:T p.(Thr2441=) NC_000001.11:119915398:G:T p.(Thr2441=) NC_000001.11:119915398:G:T Identity +NM_000168.6:c.2784C>T NP_000159.3:p.Arg928= NC_000007.14:41966288:G:A p.(Arg928=) NC_000007.14:41966288:G:A p.(Arg928=) NC_000007.14:41966288:G:A Identity +NM_017934.7:c.1842G>A NP_060404.4:p.Glu614= NC_000006.12:79001935:C:T p.(Glu614=) NC_000006.12:79001935:C:T p.(Glu614=) NC_000006.12:79001935:C:T Identity +NM_001329872.2:c.471C>T NP_001316801.1:p.Thr157= NC_000007.14:30922151:C:T p.(Thr157=) NC_000007.14:30922151:C:T p.(Thr157=) NC_000007.14:30922151:C:T Identity +NM_001304536.2:c.1806C>T NP_001291465.1:p.Tyr602= NC_000002.12:221443574:G:A p.(Tyr602=) NC_000002.12:221443574:G:A p.(Tyr602=) NC_000002.12:221443574:G:A Identity +NM_013262.4:c.1119G>A NP_037394.2:p.Val373= NC_000006.12:16145187:G:A p.(Val373=) NC_000006.12:16145187:G:A p.(Val373=) NC_000006.12:16145187:G:A Identity +NM_000936.4:c.699A>T NP_000927.1:p.Gly233= NC_000010.11:116555394:A:T p.(Gly233=) NC_000010.11:116555394:A:T p.(Gly233=) NC_000010.11:116555394:A:T Identity +NM_003036.4:c.1566C>G NP_003027.1:p.Pro522= NC_000001.11:2304383:C:G p.(Pro522=) NC_000001.11:2304383:C:G p.(Pro522=) NC_000001.11:2304383:C:G Identity +NM_001303110.2:c.720A>T NP_001290039.1:p.Pro240= NC_000013.11:110207462:T:A p.(Pro240=) NC_000013.11:110207462:T:A p.(Pro240=) NC_000013.11:110207462:T:A Identity +NM_001350529.1:c.999G>T NP_001337458.1:p.Leu333= NC_000001.11:150343429:G:T p.(Leu333=) NC_000001.11:150343429:G:T p.(Leu333=) NC_000001.11:150343429:G:T Identity +NM_001258392.3:c.513C>T NP_001245321.1:p.Leu171= NC_000011.10:72402994:G:A p.(Leu171=) NC_000011.10:72402994:G:A p.(Leu171=) NC_000011.10:72402994:G:A Identity +NM_005691.4:c.4650G>A NP_005682.2:p.Ter1550= NC_000012.12:21805173:C:T p.(Ter1550=) NC_000012.12:21805173:C:T p.(Ter1550Ter) NC_000012.12:21805173:C:T Identity +NM_000093.5:c.891G>A NP_000084.3:p.Val297= NC_000009.12:134728773:G:A p.(Val297=) NC_000009.12:134728773:G:A p.(Val297=) NC_000009.12:134728773:G:A Identity +NM_001046.3:c.99A>G NP_001037.1:p.Glu33= NC_000005.10:128084052:A:G p.(Glu33=) NC_000005.10:128084052:A:G p.(Glu33=) NC_000005.10:128084052:A:G Identity +NM_000718.4:c.5736T>C NP_000709.1:p.Leu1912= NC_000009.12:138115637:T:C p.(Leu1912=) NC_000009.12:138115637:T:C p.(Leu1912=) NC_000009.12:138115637:T:C Identity +NM_001135659.3:c.2949A>C NP_001129131.1:p.Leu983= NC_000002.12:50497382:T:G p.(Leu983=) NC_000002.12:50497382:T:G p.(Leu983=) NC_000002.12:50497382:T:G Identity +NM_000153.4:c.361C>T NP_000144.2:p.Leu121= NC_000014.9:87986569:G:A p.(Leu121=) NC_000014.9:87986569:G:A p.(Leu121=) NC_000014.9:87986569:G:A Identity +NM_052844.4:c.337C>A NP_443076.2:p.Arg113= NC_000009.12:128640788:G:T p.(Arg113=) NC_000009.12:128640788:G:T p.(Arg113=) NC_000009.12:128640788:G:T Identity +NM_001102.4:c.843G>A NP_001093.1:p.Lys281= NC_000014.9:68893666:C:T p.(Lys281=) NC_000014.9:68893666:C:T p.(Lys281=) NC_000014.9:68893666:C:T Identity +NM_001354689.3:c.42T>G NP_001341618.1:p.Gly14= NC_000003.12:12618679:A:C p.(Gly14=) NC_000003.12:12618679:A:C p.(Gly14=) NC_000003.12:12618679:A:C Identity +NM_000466.3:c.1731C>A NP_000457.1:p.Arg577= NC_000007.14:92507065:G:T p.(Arg577=) NC_000007.14:92507065:G:T p.(Arg577=) NC_000007.14:92507065:G:T Identity +NM_001365999.1:c.3468A>T NP_001352928.1:p.Gly1156= NC_000001.11:43427314:A:T p.(Gly1156=) NC_000001.11:43427314:A:T p.(Gly1156=) NC_000001.11:43427314:A:T Identity +NM_000489.6:c.3234G>A NP_000480.3:p.Glu1078= NC_000023.11:77682021:C:T p.(Glu1078=) NC_000023.11:77682021:C:T p.(Glu1078=) NC_000023.11:77682021:C:T Identity +NM_000487.6:c.264C>G NP_000478.3:p.Gly88= NC_000022.11:50627366:G:C p.(Gly88=) NC_000022.11:50627366:G:C p.(Gly88=) NC_000022.11:50627366:G:C Identity +NM_001318038.3:c.441G>A NP_001304967.1:p.Arg147= NC_000022.11:42693510:C:T p.(Arg147=) NC_000022.11:42693510:C:T p.(Arg147=) NC_000022.11:42693510:C:T Identity +NM_020944.3:c.2562G>A NP_065995.1:p.Glu854= NC_000009.12:35737390:C:T p.(Glu854=) NC_000009.12:35737390:C:T p.(Glu854=) NC_000009.12:35737390:C:T Identity +NM_022042.4:c.1287G>A NP_071325.2:p.Ala429= NC_000004.12:989651:C:T p.(Ala429=) NC_000004.12:989651:C:T p.(Ala429=) NC_000004.12:989651:C:T Identity +NM_001201459.2:c.1311A>T NP_001188388.1:p.Ala437= NC_000002.12:27377673:T:A p.(Ala437=) NC_000002.12:27377673:T:A p.(Ala437=) NC_000002.12:27377673:T:A Identity +NM_001282279.2:c.480G>C NP_001269208.1:p.Thr160= NC_000017.11:81934985:C:G p.(Thr160=) NC_000017.11:81934985:C:G p.(Thr160=) NC_000017.11:81934985:C:G Identity +NM_001042498.3:c.669C>T NP_001035963.1:p.Ile223= NC_000023.11:48905239:G:A p.(Ile223=) NC_000023.11:48905239:G:A p.(Ile223=) NC_000023.11:48905239:G:A Identity +NM_003776.4:c.12C>T NP_003767.2:p.Ser4= NC_000022.11:19432565:C:T p.(Ser4=) NC_000022.11:19432565:C:T p.(Ser4=) NC_000022.11:19432565:C:T Identity +NM_002048.3:c.501C>G NP_002039.2:p.Thr167= NC_000009.12:86946278:G:C p.(Thr167=) NC_000009.12:86946278:G:C p.(Thr167=) NC_000009.12:86946278:G:C Identity +NM_001278055.2:c.12147A>G NP_001264984.1:p.Ser4049= NC_000013.11:23331287:T:C p.(Ser4049=) NC_000013.11:23331287:T:C p.(Ser4049=) NC_000013.11:23331287:T:C Identity +NM_001271620.2:c.729C>T NP_001258549.1:p.Val243= NC_000016.10:49638242:G:A p.(Val243=) NC_000016.10:49638242:G:A p.(Val243=) NC_000016.10:49638242:G:A Identity +NM_000335.5:c.5172G>T NP_000326.2:p.Pro1724= NC_000003.12:38551196:C:A p.(Pro1724=) NC_000003.12:38551196:C:A p.(Pro1724=) NC_000003.12:38551196:C:A Identity +NM_002292.4:c.744C>T NP_002283.3:p.Asn248= NC_000003.12:49131120:G:A p.(Asn248=) NC_000003.12:49131120:G:A p.(Asn248=) NC_000003.12:49131120:G:A Identity +NM_000445.5:c.11040C>T NP_000436.2:p.Phe3680= NC_000008.11:143918861:G:A p.(Phe3680=) NC_000008.11:143918861:G:A p.(Phe3680=) NC_000008.11:143918861:G:A Identity +NM_001291997.2:c.285G>T NP_001278926.1:p.Val95= NC_000016.10:78424887:G:T p.(Val95=) NC_000016.10:78424887:G:T p.(Val95=) NC_000016.10:78424887:G:T Identity +NM_015202.5:c.4125G>A NP_056017.4:p.Pro1375= NC_000016.10:27770009:G:A p.(Pro1375=) NC_000016.10:27770009:G:A p.(Pro1375=) NC_000016.10:27770009:G:A Identity +NM_001379500.1:c.3396G>A NP_001366429.1:p.Gln1132= NC_000021.9:45509501:G:A p.(Gln1132=) NC_000021.9:45509501:G:A p.(Gln1132=) NC_000021.9:45509501:G:A Identity +NM_006612.6:c.912G>A NP_006603.2:p.Val304= NC_000017.11:5004044:G:A p.(Val304=) NC_000017.11:5004044:G:A p.(Val304=) NC_000017.11:5004044:G:A Identity +NM_001261406.2:c.3090G>T NP_001248335.1:p.Gly1030= NC_000009.12:13168529:C:A p.(Gly1030=) NC_000009.12:13168529:C:A p.(Gly1030=) NC_000009.12:13168529:C:A Identity +NM_025132.4:c.282T>C NP_079408.3:p.Asn94= NC_000004.12:39189772:T:C p.(Asn94=) NC_000004.12:39189772:T:C p.(Asn94=) NC_000004.12:39189772:T:C Identity +NM_001135599.4:c.197_199dup NP_001129071.1:p.Glu66_Val67insGlu NC_000001.11:218346895:GGAGG:GGAGGAGG p.(Glu66dup) NC_000001.11:218346895:GGAGG:GGAGGAGG p.(Glu66dup) ERR:SPDI Analogous +NM_000329.3:c.678T>C NP_000320.1:p.Val226= NC_000001.11:68439607:A:G p.(Val226=) NC_000001.11:68439607:A:G p.(Val226=) NC_000001.11:68439607:A:G Identity +NM_001199427.2:c.54G>A NP_001186356.1:p.Pro18= NC_000014.9:102870254:G:A p.(Pro18=) NC_000014.9:102870254:G:A p.(Pro18=) NC_000014.9:102870254:G:A Identity +NM_001260474.2:c.528G>A NP_001247403.1:p.Ala176= NC_000021.9:42862319:C:T p.(Ala176=) NC_000021.9:42862319:C:T p.(Ala176=) NC_000021.9:42862319:C:T Identity +NM_025219.3:c.510G>T NP_079495.1:p.Pro170= NC_000020.11:63931480:G:T p.(Pro170=) NC_000020.11:63931480:G:T p.(Pro170=) NC_000020.11:63931480:G:T Identity +NM_001256850.1:c.6705C>T NP_001243779.1:p.Thr2235= NC_000002.12:178775005:G:A p.(Thr2235=) NC_000002.12:178775005:G:A p.(Thr2235=) NC_000002.12:178775005:G:A Identity +NM_003718.5:c.3763C>T NP_003709.3:p.Leu1255= NC_000007.14:40094203:C:T p.(Leu1255=) NC_000007.14:40094203:C:T p.(Leu1255=) NC_000007.14:40094203:C:T Identity +NM_014844.5:c.4152C>T NP_055659.2:p.Phe1384= NC_000014.9:102498172:C:T p.(Phe1384=) NC_000014.9:102498172:C:T p.(Phe1384=) NC_000014.9:102498172:C:T Identity +NM_001199107.2:c.69G>A NP_001186036.1:p.Gly23= NC_000016.10:2496216:G:A p.(Gly23=) NC_000016.10:2496216:G:A p.(Gly23=) NC_000016.10:2496216:G:A Identity +NM_001415871.1:c.1684C>T NP_001402800.1:p.Leu562= NC_000002.12:108751922:C:T p.(Leu562=) NC_000002.12:108751922:C:T p.(Leu562=) NC_000002.12:108751922:C:T Identity +NM_138694.4:c.11388A>C NP_619639.3:p.Ser3796= NC_000006.12:51648040:T:G p.(Ser3796=) NC_000006.12:51648040:T:G p.(Ser3796=) NC_000006.12:51648040:T:G Identity +NM_001363227.2:c.1431C>T NP_001350156.1:p.Ile477= NC_000008.11:43193809:C:T p.(Ile477=) NC_000008.11:43193809:C:T p.(Ile477=) NC_000008.11:43193809:C:T Identity +NM_032520.5:c.12G>T NP_115909.1:p.Gly4= NC_000016.10:1351976:G:T p.(Gly4=) NC_000016.10:1351976:G:T p.(Gly4=) NC_000016.10:1351976:G:T Identity +NM_000484.4:c.843G>A NP_000475.1:p.Glu281= NC_000021.9:26021861:C:T p.(Glu281=) NC_000021.9:26021861:C:T p.(Glu281=) NC_000021.9:26021861:C:T Identity +NM_001130455.2:c.6147C>T NP_001123927.1:p.Ile2049= NC_000002.12:71682616:C:T p.(Ile2049=) NC_000002.12:71682616:C:T p.(Ile2049=) NC_000002.12:71682616:C:T Identity +NM_001411101.1:c.2289C>T NP_001398030.1:p.Gly763= NC_000017.11:82925017:C:T p.(Gly763=) NC_000017.11:82925017:C:T p.(Gly763=) NC_000017.11:82925017:C:T Identity +NM_006261.5:c.195C>T NP_006252.4:p.Arg65= NC_000005.10:177994252:G:A p.(Arg65=) NC_000005.10:177994252:G:A p.(Arg65=) NC_000005.10:177994252:G:A Identity +NM_001031848.2:c.624G>A NP_001027018.1:p.Ala208= NC_000018.10:63985148:G:A p.(Ala208=) NC_000018.10:63985148:G:A p.(Ala208=) NC_000018.10:63985148:G:A Identity +NM_001062.4:c.1173C>T NP_001053.2:p.Gly391= NC_000011.10:59853269:G:A p.(Gly391=) NC_000011.10:59853269:G:A p.(Gly391=) NC_000011.10:59853269:G:A Identity +NM_001350246.2:c.111A>G NP_001337175.1:p.Glu37= NC_000001.11:243316838:A:G p.(Glu37=) NC_000001.11:243316838:A:G p.(Glu37=) NC_000001.11:243316838:A:G Identity +NM_080680.3:c.907C>T NP_542411.2:p.Leu303= NC_000006.12:33185023:G:A p.(Leu303=) NC_000006.12:33185023:G:A p.(Leu303=) NC_000006.12:33185023:G:A Identity +NM_033071.5:c.8001G>A NP_149062.2:p.Leu2667= NC_000006.12:152391300:C:T p.(Leu2667=) NC_000006.12:152391300:C:T p.(Leu2667=) NC_000006.12:152391300:C:T Identity +NM_001291746.2:c.1326G>A NP_001278675.1:p.Ala442= NC_000002.12:60922096:G:A p.(Ala442=) NC_000002.12:60922096:G:A p.(Ala442=) NC_000002.12:60922096:G:A Identity +NM_000891.3:c.1284A>G NP_000882.1:p.Ter428Trp NC_000017.11:70176322:A:G p.(Ter428TrpextTer26) NC_000017.11:70176322:A:G p.(Ter428TrpextTer26) NC_000017.11:70176322:A:G Analogous +NM_001004426.3:c.2205C>T NP_001004426.1:p.Ile735= NC_000022.11:38112214:G:A p.(Ile735=) NC_000022.11:38112214:G:A p.(Ile735=) NC_000022.11:38112214:G:A Identity +NM_001207055.2:c.717G>A NP_001193984.1:p.Gly239= NC_000020.11:32791629:G:A p.(Gly239=) NC_000020.11:32791629:G:A p.(Gly239=) NC_000020.11:32791629:G:A Identity +NM_001256850.1:c.101596T>C NP_001243779.1:p.Leu33866= NC_000002.12:178529971:A:G p.(Leu33866=) NC_000002.12:178529971:A:G p.(Leu33866=) NC_000002.12:178529971:A:G Identity +NM_001411067.1:c.1890G>C NP_001397996.1:p.Leu630= NC_000017.11:8232960:C:G p.(Leu630=) NC_000017.11:8232960:C:G p.(Leu630=) NC_000017.11:8232960:C:G Identity +NM_000172.4:c.21T>C NP_000163.2:p.Ala7= NC_000003.12:50191745:T:C p.(Ala7=) NC_000003.12:50191745:T:C p.(Ala7=) NC_000003.12:50191745:T:C Identity +NM_001376472.1:c.225G>C NP_001363401.1:p.Val75= NC_000022.11:50083125:C:G p.(Val75=) NC_000022.11:50083125:C:G p.(Val75=) NC_000022.11:50083125:C:G Identity +NM_001394062.1:c.19299G>A NP_001380991.1:p.Gln6433= NC_000001.11:39442907:G:A p.(Gln6433=) NC_000001.11:39442907:G:A p.(Gln6433=) NC_000001.11:39442907:G:A Identity +NM_015692.5:c.5166G>C NP_056507.3:p.Pro1722= NC_000019.10:16896564:C:G p.(Pro1722=) NC_000019.10:16896564:C:G p.(Pro1722=) NC_000019.10:16896564:C:G Identity +NM_005562.3:c.3363C>G NP_005553.2:p.Val1121= NC_000001.11:183243180:C:G p.(Val1121=) NC_000001.11:183243180:C:G p.(Val1121=) NC_000001.11:183243180:C:G Identity +NM_001130103.2:c.93G>A NP_001123575.1:p.Ala31= NC_000010.11:69802515:G:A p.(Ala31=) NC_000010.11:69802515:G:A p.(Ala31=) NC_000010.11:69802515:G:A Identity +NM_001142333.2:c.705C>T NP_001135805.1:p.Thr235= NC_000016.10:7653842:C:T p.(Thr235=) NC_000016.10:7653842:C:T p.(Thr235=) NC_000016.10:7653842:C:T Identity +NM_001282902.3:c.399A>G NP_001269831.1:p.Gln133= NC_000008.11:115619671:T:C p.(Gln133=) NC_000008.11:115619671:T:C p.(Gln133=) NC_000008.11:115619671:T:C Identity +NM_001372.4:c.69A>C NP_001363.2:p.Arg23= NC_000017.11:11598566:A:C p.(Arg23=) NC_000017.11:11598566:A:C p.(Arg23=) NC_000017.11:11598566:A:C Identity +NM_001374299.1:c.132T>C NP_001361228.1:p.Tyr44= NC_000009.12:92288269:A:G p.(Tyr44=) NC_000009.12:92288269:A:G p.(Tyr44=) NC_000009.12:92288269:A:G Identity +NM_000271.5:c.1839A>G NP_000262.2:p.Leu613= NC_000018.10:23545067:T:C p.(Leu613=) NC_000018.10:23545067:T:C p.(Leu613=) NC_000018.10:23545067:T:C Identity +NM_001378454.1:c.1854_1856dup NP_001365383.1:p.Ser619_Thr620insSer NC_000002.12:73448379:CCTC:CCTCCTC p.(Ser619dup) NC_000002.12:73448379:CCTC:CCTCCTC p.(Ser619dup) ERR:SPDI Analogous +NM_001077653.2:c.1239C>T NP_001071121.1:p.Phe413= NC_000007.14:35202534:G:A p.(Phe413=) NC_000007.14:35202534:G:A p.(Phe413=) NC_000007.14:35202534:G:A Identity +NM_001256849.1:c.496C>A NP_001243778.1:p.Arg166= NC_000019.10:50402030:C:A p.(Arg166=) NC_000019.10:50402030:C:A p.(Arg166=) NC_000019.10:50402030:C:A Identity +NM_001001890.3:c.162G>C NP_001001890.1:p.Val54= NC_000021.9:34886950:C:G p.(Val54=) NC_000021.9:34886950:C:G p.(Val54=) NC_000021.9:34886950:C:G Identity +NM_001303249.3:c.115C>T NP_001290178.1:p.Leu39= NC_000005.10:110739233:C:T p.(Leu39=) NC_000005.10:110739233:C:T p.(Leu39=) NC_000005.10:110739233:C:T Identity +NM_001355016.2:c.2784G>A NP_001341945.1:p.Leu928= NC_000005.10:150117778:C:T p.(Leu928=) NC_000005.10:150117778:C:T p.(Leu928=) NC_000005.10:150117778:C:T Identity +NM_005202.4:c.22C>T NP_005193.1:p.Leu8= NC_000001.11:36100220:G:A p.(Leu8=) NC_000001.11:36100220:G:A p.(Leu8=) NC_000001.11:36100220:G:A Identity +NM_005559.4:c.8214G>T NP_005550.2:p.Ser2738= NC_000018.10:6950964:C:A p.(Ser2738=) NC_000018.10:6950964:C:A p.(Ser2738=) NC_000018.10:6950964:C:A Identity +NM_017570.5:c.3717C>T NP_060040.1:p.Pro1239= NC_000008.11:144051731:G:A p.(Pro1239=) NC_000008.11:144051731:G:A p.(Pro1239=) NC_000008.11:144051731:G:A Identity +NM_001141973.3:c.1594C>T NP_001135445.1:p.Leu532= NC_000001.11:16993768:G:A p.(Leu532=) NC_000001.11:16993768:G:A p.(Leu532=) NC_000001.11:16993768:G:A Identity +NM_006343.3:c.2295A>G NP_006334.2:p.Lys765= NC_000002.12:112021526:A:G p.(Lys765=) NC_000002.12:112021526:A:G p.(Lys765=) NC_000002.12:112021526:A:G Identity +NM_001206836.2:c.291C>T NP_001193765.1:p.Leu97= NC_000015.10:65877815:C:T p.(Leu97=) NC_000015.10:65877815:C:T p.(Leu97=) NC_000015.10:65877815:C:T Identity +NM_032888.4:c.1020T>C NP_116277.2:p.Ser340= NC_000009.12:114168574:T:C p.(Ser340=) NC_000009.12:114168574:T:C p.(Ser340=) NC_000009.12:114168574:T:C Identity +NM_017934.7:c.3555G>T NP_060404.4:p.Val1185= NC_000006.12:78961790:C:A p.(Val1185=) NC_000006.12:78961790:C:A p.(Val1185=) NC_000006.12:78961790:C:A Identity +NM_001345868.2:c.744G>T NP_001332797.1:p.Val248= NC_000004.12:44686518:G:T p.(Val248=) NC_000004.12:44686518:G:T p.(Val248=) NC_000004.12:44686518:G:T Identity +NM_022915.5:c.51G>A NP_075066.1:p.Leu17= NC_000002.12:223957522:G:A p.(Leu17=) NC_000002.12:223957522:G:A p.(Leu17=) NC_000002.12:223957522:G:A Identity +NM_006019.4:c.633C>T NP_006010.2:p.Gly211= NC_000011.10:68043572:C:T p.(Gly211=) NC_000011.10:68043572:C:T p.(Gly211=) NC_000011.10:68043572:C:T Identity +NM_004525.3:c.741T>C NP_004516.2:p.Cys247= NC_000002.12:169292280:A:G p.(Cys247=) NC_000002.12:169292280:A:G p.(Cys247=) NC_000002.12:169292280:A:G Identity +NM_000875.5:c.1215T>G NP_000866.1:p.Leu405= NC_000015.10:98899588:T:G p.(Leu405=) NC_000015.10:98899588:T:G p.(Leu405=) NC_000015.10:98899588:T:G Identity +NM_001170794.2:c.2107T>C NP_001164265.1:p.Leu703= NC_000006.12:89932826:A:G p.(Leu703=) NC_000006.12:89932826:A:G p.(Leu703=) NC_000006.12:89932826:A:G Identity +NM_001167749.3:c.369G>A NP_001161221.1:p.Gln123= NC_000001.11:167893852:C:T p.(Gln123=) NC_000001.11:167893852:C:T p.(Gln123=) NC_000001.11:167893852:C:T Identity +NM_001277155.3:c.792C>T NP_001264084.1:p.Ile264= NC_000001.11:235470942:G:A p.(Ile264=) NC_000001.11:235470942:G:A p.(Ile264=) NC_000001.11:235470942:G:A Identity +NM_001171.6:c.4005G>A NP_001162.5:p.Leu1335= NC_000016.10:16154908:C:T p.(Leu1335=) NC_000016.10:16154908:C:T p.(Leu1335=) NC_000016.10:16154908:C:T Identity +NM_001190233.2:c.9T>C NP_001177162.1:p.His3= NC_000003.12:180988067:A:G p.(His3=) NC_000003.12:180988067:A:G p.(His3=) NC_000003.12:180988067:A:G Identity +NM_001282526.2:c.321G>A NP_001269455.1:p.Lys107= NC_000020.11:18480051:G:A p.(Lys107=) NC_000020.11:18480051:G:A p.(Lys107=) NC_000020.11:18480051:G:A Identity +NM_032193.4:c.165C>T NP_115569.2:p.Gly55= NC_000011.10:65720593:G:A p.(Gly55=) NC_000011.10:65720593:G:A p.(Gly55=) NC_000011.10:65720593:G:A Identity +NM_015102.5:c.1032C>T NP_055917.1:p.Arg344= NC_000001.11:5947190:G:A p.(Arg344=) NC_000001.11:5947190:G:A p.(Arg344=) NC_000001.11:5947190:G:A Identity +NM_001146289.2:c.765C>T NP_001139761.1:p.Tyr255= NC_000001.11:42759243:G:A p.(Tyr255=) NC_000001.11:42759243:G:A p.(Tyr255=) NC_000001.11:42759243:G:A Identity +NM_001943.5:c.2235G>T NP_001934.2:p.Thr745= NC_000018.10:31542752:G:T p.(Thr745=) NC_000018.10:31542752:G:T p.(Thr745=) NC_000018.10:31542752:G:T Identity +NM_017890.5:c.3561C>G NP_060360.3:p.Val1187= NC_000008.11:99467528:C:G p.(Val1187=) NC_000008.11:99467528:C:G p.(Val1187=) NC_000008.11:99467528:C:G Identity +NM_001160306.2:c.4440T>C NP_001153778.1:p.Asn1480= NC_000021.9:32631135:A:G p.(Asn1480=) NC_000021.9:32631135:A:G p.(Asn1480=) NC_000021.9:32631135:A:G Identity +NM_001410784.1:c.1095C>T NP_001397713.1:p.Leu365= NC_000003.12:101757802:C:T p.(Leu365=) NC_000003.12:101757802:C:T p.(Leu365=) NC_000003.12:101757802:C:T Identity +NM_000429.3:c.417C>T NP_000420.1:p.Phe139= NC_000010.11:80280304:G:A p.(Phe139=) NC_000010.11:80280304:G:A p.(Phe139=) NC_000010.11:80280304:G:A Identity +NM_001040151.2:c.411G>A NP_001035241.1:p.Thr137= NC_000011.10:123642479:C:T p.(Thr137=) NC_000011.10:123642479:C:T p.(Thr137=) NC_000011.10:123642479:C:T Identity +NM_001101.5:c.706C>T NP_001092.1:p.Leu236= NC_000007.14:5528376:G:A p.(Leu236=) NC_000007.14:5528376:G:A p.(Leu236=) NC_000007.14:5528376:G:A Identity +NM_002775.5:c.1011T>C NP_002766.1:p.Gly337= NC_000010.11:122508660:T:C p.(Gly337=) NC_000010.11:122508660:T:C p.(Gly337=) NC_000010.11:122508660:T:C Identity +NM_000214.3:c.2280G>T NP_000205.1:p.Val760= NC_000020.11:10644926:C:A p.(Val760=) NC_000020.11:10644926:C:A p.(Val760=) NC_000020.11:10644926:C:A Identity +NM_005910.6:c.819G>C NP_005901.2:p.Gly273= NC_000017.11:45996660:G:C p.(Gly273=) NC_000017.11:45996660:G:C p.(Gly273=) NC_000017.11:45996660:G:C Identity +NM_001378454.1:c.303C>T NP_001365383.1:p.Gly101= NC_000002.12:73386170:C:T p.(Gly101=) NC_000002.12:73386170:C:T p.(Gly101=) NC_000002.12:73386170:C:T Identity +NM_000023.4:c.195C>T NP_000014.1:p.His65= NC_000017.11:50167618:C:T p.(His65=) NC_000017.11:50167618:C:T p.(His65=) NC_000017.11:50167618:C:T Identity +NM_001291285.3:c.2277T>C NP_001278214.1:p.Tyr759= NC_000004.12:125318687:T:C p.(Tyr759=) NC_000004.12:125318687:T:C p.(Tyr759=) NC_000004.12:125318687:T:C Identity +NM_004268.5:c.576A>G NP_004259.3:p.Gln192= NC_000011.10:93790731:A:G p.(Gln192=) NC_000011.10:93790731:A:G p.(Gln192=) NC_000011.10:93790731:A:G Identity +NM_005560.6:c.5556C>T NP_005551.3:p.Asp1852= NC_000020.11:62324527:G:A p.(Asp1852=) NC_000020.11:62324527:G:A p.(Asp1852=) NC_000020.11:62324527:G:A Identity +NM_001378492.1:c.519T>A NP_001365421.1:p.Ser173= NC_000003.12:190408449:T:A p.(Ser173=) NC_000003.12:190408449:T:A p.(Ser173=) NC_000003.12:190408449:T:A Identity +NM_001316690.1:c.2244C>G NP_001303619.1:p.Pro748= NC_000008.11:60865329:C:G p.(Pro748=) NC_000008.11:60865329:C:G p.(Pro748=) NC_000008.11:60865329:C:G Identity +NM_004565.3:c.525G>A NP_004556.1:p.Glu175= NC_000001.11:10624376:G:A p.(Glu175=) NC_000001.11:10624376:G:A p.(Glu175=) NC_000001.11:10624376:G:A Identity +NM_000346.4:c.1062G>C NP_000337.1:p.Pro354= NC_000017.11:72123918:G:C p.(Pro354=) NC_000017.11:72123918:G:C p.(Pro354=) NC_000017.11:72123918:G:C Identity +NM_001197104.2:c.9780C>T NP_001184033.1:p.Phe3260= NC_000011.10:118505671:C:T p.(Phe3260=) NC_000011.10:118505671:C:T p.(Phe3260=) NC_000011.10:118505671:C:T Identity +NM_003906.5:c.2007C>T NP_003897.2:p.His669= NC_000021.9:46273576:G:A p.(His669=) NC_000021.9:46273576:G:A p.(His669=) NC_000021.9:46273576:G:A Identity +NM_001377291.1:c.795C>A NP_001364220.1:p.Thr265= NC_000006.12:70282903:G:T p.(Thr265=) NC_000006.12:70282903:G:T p.(Thr265=) NC_000006.12:70282903:G:T Identity +NM_145064.3:c.111A>G NP_659501.1:p.Thr37= NC_000012.12:57249263:T:C p.(Thr37=) NC_000012.12:57249263:T:C p.(Thr37=) NC_000012.12:57249263:T:C Identity +NM_000978.4:c.366A>G NP_000969.1:p.Ala122= NC_000017.11:38850188:T:C p.(Ala122=) NC_000017.11:38850188:T:C p.(Ala122=) NC_000017.11:38850188:T:C Identity +NM_001440.4:c.1056T>C NP_001431.1:p.Ser352= NC_000008.11:28717114:T:C p.(Ser352=) NC_000008.11:28717114:T:C p.(Ser352=) NC_000008.11:28717114:T:C Identity +NM_001164097.2:c.5598C>T NP_001157569.1:p.Asp1866= NC_000005.10:83541561:C:T p.(Asp1866=) NC_000005.10:83541561:C:T p.(Asp1866=) NC_000005.10:83541561:C:T Identity +NM_000228.3:c.1851C>T NP_000219.2:p.Asp617= NC_000001.11:209625772:G:A p.(Asp617=) NC_000001.11:209625772:G:A p.(Asp617=) NC_000001.11:209625772:G:A Identity +NM_001205319.1:c.114G>T NP_001192248.1:p.Val38= NC_000017.11:826000:C:A p.(Val38=) NC_000017.11:826000:C:A p.(Val38=) NC_000017.11:826000:C:A Identity +NM_001362884.2:c.510G>A NP_001349813.1:p.Ala170= NC_000008.11:20253420:C:T p.(Ala170=) NC_000008.11:20253420:C:T p.(Ala170=) NC_000008.11:20253420:C:T Identity +NM_001007098.3:c.546C>T NP_001007099.1:p.Pro182= NC_000001.11:52978219:C:T p.(Pro182=) NC_000001.11:52978219:C:T p.(Pro182=) NC_000001.11:52978219:C:T Identity +NM_001113378.2:c.690G>A NP_001106849.1:p.Leu230= NC_000015.10:89264541:G:A p.(Leu230=) NC_000015.10:89264541:G:A p.(Leu230=) NC_000015.10:89264541:G:A Identity +NM_022124.6:c.6486T>C NP_071407.4:p.Ile2162= NC_000010.11:71793413:T:C p.(Ile2162=) NC_000010.11:71793413:T:C p.(Ile2162=) NC_000010.11:71793413:T:C Identity +NM_005222.4:c.228GGC[6] NP_005213.3:p.Ala83_Gly84insAla NC_000007.14:97006203:CGGCGGCGGCGGCGGC:CGGCGGCGGCGGCGGCGGC p.(Ala83dup) NC_000007.14:97006204:G:GGCGGCGGCGGCGGCGGC ERR:Parse ERR:Parse Analogous +NM_001079846.1:c.1104G>A NP_001073315.1:p.Gln368= NC_000016.10:3793497:C:T p.(Gln368=) NC_000016.10:3793497:C:T p.(Gln368=) NC_000016.10:3793497:C:T Identity +NM_001256850.1:c.8595A>C NP_001243779.1:p.Thr2865= NC_000002.12:178770105:T:G p.(Thr2865=) NC_000002.12:178770105:T:G p.(Thr2865=) NC_000002.12:178770105:T:G Identity +NM_001291902.2:c.2175G>C NP_001278831.1:p.Ala725= NC_000011.10:68433755:G:C p.(Ala725=) NC_000011.10:68433755:G:C p.(Ala725=) NC_000011.10:68433755:G:C Identity +NM_000263.4:c.1707G>A NP_000254.2:p.Gln569= NC_000017.11:42543712:G:A p.(Gln569=) NC_000017.11:42543712:G:A p.(Gln569=) NC_000017.11:42543712:G:A Identity +NM_001018088.3:c.6693G>A NP_001018098.1:p.Thr2231= NC_000015.10:61922678:C:T p.(Thr2231=) NC_000015.10:61922678:C:T p.(Thr2231=) NC_000015.10:61922678:C:T Identity +NM_001165962.2:c.852C>T NP_001159434.1:p.Ala284= NC_000017.11:13004999:G:A p.(Ala284=) NC_000017.11:13004999:G:A p.(Ala284=) NC_000017.11:13004999:G:A Identity +NM_000047.3:c.1200G>A NP_000038.2:p.Pro400= NC_000023.11:2938183:C:T p.(Pro400=) NC_000023.11:2938183:C:T p.(Pro400=) NC_000023.11:2938183:C:T Identity +NM_080476.5:c.1002C>T NP_536724.1:p.Asp334= NC_000020.11:34581596:G:A p.(Asp334=) NC_000020.11:34581596:G:A p.(Asp334=) NC_000020.11:34581596:G:A Identity +NM_001256959.2:c.1011A>G NP_001243888.2:p.Ala337= NC_000001.11:11828579:A:G p.(Ala337=) NC_000001.11:11828579:A:G p.(Ala337=) NC_000001.11:11828579:A:G Identity +NM_001165895.2:c.369C>G NP_001159367.1:p.Leu123= NC_000019.10:8303861:G:C p.(Leu123=) NC_000019.10:8303861:G:C p.(Leu123=) NC_000019.10:8303861:G:C Identity +NM_001306090.2:c.1449G>A NP_001293019.1:p.Pro483= NC_000004.12:5753917:G:A p.(Pro483=) NC_000004.12:5753917:G:A p.(Pro483=) NC_000004.12:5753917:G:A Identity +NM_001382.4:c.888C>T NP_001373.2:p.Ile296= NC_000011.10:119097883:G:A p.(Ile296=) NC_000011.10:119097883:G:A p.(Ile296=) NC_000011.10:119097883:G:A Identity +NM_000721.4:c.3100C>T NP_000712.2:p.Leu1034= NC_000001.11:181733587:C:T p.(Leu1034=) NC_000001.11:181733587:C:T p.(Leu1034=) NC_000001.11:181733587:C:T Identity +NM_001174116.3:c.8382G>A NP_001167587.1:p.Thr2794= NC_000015.10:51456146:C:T p.(Thr2794=) NC_000015.10:51456146:C:T p.(Thr2794=) NC_000015.10:51456146:C:T Identity +NM_016335.6:c.21G>C NP_057419.5:p.Leu7= NC_000022.11:18936266:C:G p.(Leu7=) NC_000022.11:18936266:C:G p.(Leu7=) NC_000022.11:18936266:C:G Identity +NM_001256182.2:c.912C>T NP_001243111.1:p.Asp304= NC_000016.10:89285629:G:A p.(Asp304=) NC_000016.10:89285629:G:A p.(Asp304=) NC_000016.10:89285629:G:A Identity +NM_001184976.2:c.765C>T NP_001171905.1:p.Thr255= NC_000012.12:54512078:C:T p.(Thr255=) NC_000012.12:54512078:C:T p.(Thr255=) NC_000012.12:54512078:C:T Identity +NM_000545.8:c.750G>A NP_000536.6:p.Gln250= NC_000012.12:120994199:G:A p.(Gln250=) NC_000012.12:120994199:G:A p.(Gln250=) NC_000012.12:120994199:G:A Identity +NM_001372.4:c.11007C>T NP_001363.2:p.Asn3669= NC_000017.11:11886859:C:T p.(Asn3669=) NC_000017.11:11886859:C:T p.(Asn3669=) NC_000017.11:11886859:C:T Identity +NM_005751.5:c.669G>A NP_005742.4:p.Glu223= NC_000007.14:91994712:G:A p.(Glu223=) NC_000007.14:91994712:G:A p.(Glu223=) NC_000007.14:91994712:G:A Identity +NM_001370085.1:c.909C>T NP_001357014.1:p.Ile303= NC_000020.11:763661:G:A p.(Ile303=) NC_000020.11:763661:G:A p.(Ile303=) NC_000020.11:763661:G:A Identity +NM_001352029.1:c.1875G>A NP_001338958.1:p.Ala625= NC_000011.10:45933997:C:T p.(Ala625=) NC_000011.10:45933997:C:T p.(Ala625=) NC_000011.10:45933997:C:T Identity +NM_012213.3:c.813A>G NP_036345.2:p.Glu271= NC_000016.10:83912231:A:G p.(Glu271=) NC_000016.10:83912231:A:G p.(Glu271=) NC_000016.10:83912231:A:G Identity +NM_000268.4:c.324G>A NP_000259.1:p.Glu108= NC_000022.11:29639172:G:A p.(Glu108=) NC_000022.11:29639172:G:A p.(Glu108=) NC_000022.11:29639172:G:A Identity +NM_000844.4:c.1377T>C NP_000835.1:p.Gly459= NC_000003.12:7461583:T:C p.(Gly459=) NC_000003.12:7461583:T:C p.(Gly459=) NC_000003.12:7461583:T:C Identity +NM_002887.4:c.882A>G NP_002878.2:p.Val294= NC_000005.10:168500649:A:G p.(Val294=) NC_000005.10:168500649:A:G p.(Val294=) NC_000005.10:168500649:A:G Identity +NM_001316772.1:c.1446G>A NP_001303701.1:p.Glu482= NC_000007.14:30622456:G:A p.(Glu482=) NC_000007.14:30622456:G:A p.(Glu482=) NC_000007.14:30622456:G:A Identity +NM_001244580.2:c.2658C>T NP_001231509.1:p.Ser886= NC_000007.14:98921787:C:T p.(Ser886=) NC_000007.14:98921787:C:T p.(Ser886=) NC_000007.14:98921787:C:T Identity +NM_001145288.2:c.1203G>C NP_001138760.1:p.Gly401= NC_000012.12:100418083:G:C p.(Gly401=) NC_000012.12:100418083:G:C p.(Gly401=) NC_000012.12:100418083:G:C Identity +NM_033071.5:c.21759G>A NP_149062.2:p.Ser7253= NC_000006.12:152219074:C:T p.(Ser7253=) NC_000006.12:152219074:C:T p.(Ser7253=) NC_000006.12:152219074:C:T Identity +NM_001848.3:c.1023C>T NP_001839.2:p.Gly341= NC_000021.9:45990792:C:T p.(Gly341=) NC_000021.9:45990792:C:T p.(Gly341=) NC_000021.9:45990792:C:T Identity +NM_001185077.3:c.280C>T NP_001172006.1:p.Leu94= NC_000017.11:81869400:G:A p.(Leu94=) NC_000017.11:81869400:G:A p.(Leu94=) NC_000017.11:81869400:G:A Identity +NM_000253.4:c.1947C>T NP_000244.2:p.Asn649= NC_000004.12:99611410:C:T p.(Asn649=) NC_000004.12:99611410:C:T p.(Asn649=) NC_000004.12:99611410:C:T Identity +NM_001252020.2:c.804G>C NP_001238949.1:p.Leu268= NC_000015.10:31066112:C:G p.(Leu268=) NC_000015.10:31066112:C:G p.(Leu268=) NC_000015.10:31066112:C:G Identity +NM_006734.4:c.4881G>C NP_006725.3:p.Thr1627= NC_000006.12:142769857:C:G p.(Thr1627=) NC_000006.12:142769857:C:G p.(Thr1627=) NC_000006.12:142769857:C:G Identity +NM_001355186.2:c.300C>G NP_001342115.1:p.Thr100= NC_000003.12:43702380:C:G p.(Thr100=) NC_000003.12:43702380:C:G p.(Thr100=) NC_000003.12:43702380:C:G Identity +NM_001164507.2:c.23197_23205del NP_001157979.2:p.Pro7733_Phe7735del NC_000002.12:151513615:AAAATCCGGA:A p.(Pro7733_Phe7735del) NC_000002.12:151513615:AAAATCCGGA:A p.(Pro7733_Phe7735del) NC_000002.12:151513615:AAAATCCGG: Identity +NM_014975.3:c.3543C>T NP_055790.1:p.His1181= NC_000019.10:12873699:C:T p.(His1181=) NC_000019.10:12873699:C:T p.(His1181=) NC_000019.10:12873699:C:T Identity +NM_001293273.2:c.147C>T NP_001280202.1:p.Ser49= NC_000003.12:183071350:G:A p.(Ser49=) NC_000003.12:183071350:G:A p.(Ser49=) NC_000003.12:183071350:G:A Identity +NM_000227.6:c.4809A>G NP_000218.3:p.Ala1603= NC_000018.10:23950152:A:G p.(Ala1603=) NC_000018.10:23950152:A:G p.(Ala1603=) NC_000018.10:23950152:A:G Identity +NM_015909.4:c.5892C>T NP_056993.2:p.His1964= NC_000002.12:15238518:G:A p.(His1964=) NC_000002.12:15238518:G:A p.(His1964=) NC_000002.12:15238518:G:A Identity +NM_002968.3:c.9G>A NP_002959.2:p.Arg3= NC_000016.10:51151232:C:T p.(Arg3=) NC_000016.10:51151232:C:T p.(Arg3=) NC_000016.10:51151232:C:T Identity +NM_001113178.3:c.741T>C NP_001106649.1:p.Ser247= NC_000016.10:69647514:T:C p.(Ser247=) NC_000016.10:69647514:T:C p.(Ser247=) NC_000016.10:69647514:T:C Identity +NM_000545.8:c.852C>T NP_000536.6:p.Asp284= NC_000012.12:120994301:C:T p.(Asp284=) NC_000012.12:120994301:C:T p.(Asp284=) NC_000012.12:120994301:C:T Identity +NM_000091.5:c.237C>T NP_000082.2:p.Gly79= NC_000002.12:227244321:C:T p.(Gly79=) NC_000002.12:227244321:C:T p.(Gly79=) NC_000002.12:227244321:C:T Identity +NM_005619.5:c.1506C>T NP_005610.1:p.Ile502= NC_000019.10:45486104:G:A p.(Ile502=) NC_000019.10:45486104:G:A p.(Ile502=) NC_000019.10:45486104:G:A Identity +NM_000828.5:c.1155G>A NP_000819.4:p.Val385= NC_000023.11:123403067:G:A p.(Val385=) NC_000023.11:123403067:G:A p.(Val385=) NC_000023.11:123403067:G:A Identity +NM_000492.4:c.2493G>A NP_000483.3:p.Glu831= NC_000007.14:117594931:G:A p.(Glu831=) NC_000007.14:117594931:G:A p.(Glu831=) NC_000007.14:117594931:G:A Identity +NM_021942.6:c.2811C>T NP_068761.4:p.Ser937= NC_000004.12:183697794:C:T p.(Ser937=) NC_000004.12:183697794:C:T p.(Ser937=) NC_000004.12:183697794:C:T Identity +NM_001321378.2:c.69A>G NP_001308307.1:p.Ala23= NC_000011.10:17169672:T:C p.(Ala23=) NC_000011.10:17169672:T:C p.(Ala23=) NC_000011.10:17169672:T:C Identity +NM_033109.5:c.2013T>C NP_149100.2:p.Asp671= NC_000002.12:55643318:A:G p.(Asp671=) NC_000002.12:55643318:A:G p.(Asp671=) NC_000002.12:55643318:A:G Identity +NM_000396.4:c.846A>G NP_000387.1:p.Gly282= NC_000001.11:150799211:T:C p.(Gly282=) NC_000001.11:150799211:T:C p.(Gly282=) NC_000001.11:150799211:T:C Identity +NM_032193.4:c.213G>A NP_115569.2:p.Glu71= NC_000011.10:65720376:C:T p.(Glu71=) NC_000011.10:65720376:C:T p.(Glu71=) NC_000011.10:65720376:C:T Identity +NM_001318491.2:c.1452C>T NP_001305420.1:p.Ala484= NC_000013.11:20638453:C:T p.(Ala484=) NC_000013.11:20638453:C:T p.(Ala484=) NC_000013.11:20638453:C:T Identity +NM_001009999.3:c.39G>A NP_001009999.1:p.Ala13= NC_000001.11:23019634:G:A p.(Ala13=) NC_000001.11:23019634:G:A p.(Ala13=) NC_000001.11:23019634:G:A Identity +NM_000318.3:c.843T>C NP_000309.2:p.Pro281= NC_000008.11:76983335:A:G p.(Pro281=) NC_000008.11:76983335:A:G p.(Pro281=) NC_000008.11:76983335:A:G Identity +NM_001141973.3:c.3385C>T NP_001135445.1:p.Leu1129= NC_000001.11:16986467:G:A p.(Leu1129=) NC_000001.11:16986467:G:A p.(Leu1129=) NC_000001.11:16986467:G:A Identity +NM_004055.5:c.1704C>T NP_004046.2:p.Phe568= NC_000011.10:77122675:C:T p.(Phe568=) NC_000011.10:77122675:C:T p.(Phe568=) NC_000011.10:77122675:C:T Identity +NM_000489.6:c.1818G>A NP_000480.3:p.Gln606= NC_000023.11:77683437:C:T p.(Gln606=) NC_000023.11:77683437:C:T p.(Gln606=) NC_000023.11:77683437:C:T Identity +NM_000091.5:c.3000C>T NP_000082.2:p.Gly1000= NC_000002.12:227290017:C:T p.(Gly1000=) NC_000002.12:227290017:C:T p.(Gly1000=) NC_000002.12:227290017:C:T Identity +NM_000429.3:c.390G>T NP_000420.1:p.Val130= NC_000010.11:80280694:C:A p.(Val130=) NC_000010.11:80280694:C:A p.(Val130=) NC_000010.11:80280694:C:A Identity +NM_024747.6:c.1119G>C NP_079023.2:p.Gly373= NC_000010.11:102066592:G:C p.(Gly373=) NC_000010.11:102066592:G:C p.(Gly373=) NC_000010.11:102066592:G:C Identity +NM_001037131.3:c.2184G>A NP_001032208.1:p.Thr728= NC_000002.12:236120260:G:A p.(Thr728=) NC_000002.12:236120260:G:A p.(Thr728=) NC_000002.12:236120260:G:A Identity +NM_001243027.3:c.252A>G NP_001229956.1:p.Lys84= NC_000019.10:40242536:T:C p.(Lys84=) NC_000019.10:40242536:T:C p.(Lys84=) NC_000019.10:40242536:T:C Identity +NM_001367904.1:c.213G>A NP_001354833.1:p.Pro71= NC_000011.10:117780643:C:T p.(Pro71=) NC_000011.10:117780643:C:T p.(Pro71=) NC_000011.10:117780643:C:T Identity +NM_001276468.2:c.330G>A NP_001263397.1:p.Leu110= NC_000012.12:57630513:C:T p.(Leu110=) NC_000012.12:57630513:C:T p.(Leu110=) NC_000012.12:57630513:C:T Identity +NM_001130846.4:c.762G>A NP_001124318.2:p.Lys254= NC_000023.11:130129619:C:T p.(Lys254=) NC_000023.11:130129619:C:T p.(Lys254=) NC_000023.11:130129619:C:T Identity +NM_133259.4:c.4050A>G NP_573566.2:p.Lys1350= NC_000002.12:43889811:T:C p.(Lys1350=) NC_000002.12:43889811:T:C p.(Lys1350=) NC_000002.12:43889811:T:C Identity +NM_006739.4:c.1020C>T NP_006730.2:p.Ala340= NC_000022.11:35412609:C:T p.(Ala340=) NC_000022.11:35412609:C:T p.(Ala340=) NC_000022.11:35412609:C:T Identity +NM_001414505.1:c.549C>T NP_001401434.1:p.Pro183= NC_000021.9:33252669:C:T p.(Pro183=) NC_000021.9:33252669:C:T p.(Pro183=) NC_000021.9:33252669:C:T Identity +NM_001413017.1:c.723C>G NP_001399946.1:p.Ala241= NC_000008.11:144516395:G:C p.(Ala241=) NC_000008.11:144516395:G:C p.(Ala241=) NC_000008.11:144516395:G:C Identity +NM_000033.4:c.1098G>A NP_000024.2:p.Lys366= NC_000023.11:153736127:G:A p.(Lys366=) NC_000023.11:153736127:G:A p.(Lys366=) NC_000023.11:153736127:G:A Identity +NM_000191.3:c.102A>G NP_000182.2:p.Lys34= NC_000001.11:23820551:T:C p.(Lys34=) NC_000001.11:23820551:T:C p.(Lys34=) NC_000001.11:23820551:T:C Identity +NM_000118.4:c.1218C>T NP_000109.1:p.Arg406= NC_000009.12:127819953:G:A p.(Arg406=) NC_000009.12:127819953:G:A p.(Arg406=) NC_000009.12:127819953:G:A Identity +NM_001136037.4:c.600C>A NP_001129509.2:p.Arg200= NC_000002.12:127642174:G:T p.(Arg200=) NC_000002.12:127642174:G:T p.(Arg200=) NC_000002.12:127642174:G:T Identity +NM_004501.3:c.246C>T NP_004492.2:p.Gly82= NC_000001.11:244864061:G:A p.(Gly82=) NC_000001.11:244864061:G:A p.(Gly82=) NC_000001.11:244864061:G:A Identity +NM_030930.4:c.198T>C NP_112192.2:p.Ala66= NC_000011.10:68003696:A:G p.(Ala66=) NC_000011.10:68003696:A:G p.(Ala66=) NC_000011.10:68003696:A:G Identity +NM_014974.3:c.102A>G NP_055789.1:p.Lys34= NC_000010.11:486513:T:C p.(Lys34=) NC_000010.11:486513:T:C p.(Lys34=) NC_000010.11:486513:T:C Identity +NM_001346813.1:c.264_287del24 NP_001333742.1:p.His89_His96del NC_000006.12:156778178:CACCACCACCACCACCATGCCCACCACCACCACCACCA:CACCACCACCACCA ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001285829.2:c.237C>G NP_001272758.1:p.Pro79= NC_000019.10:33301820:G:C p.(Pro79=) NC_000019.10:33301820:G:C p.(Pro79=) NC_000019.10:33301820:G:C Identity +NM_001207000.1:c.327C>T NP_001193929.1:p.Arg109= NC_000004.12:82429363:G:A p.(Arg109=) NC_000004.12:82429363:G:A p.(Arg109=) NC_000004.12:82429363:G:A Identity +NM_001378418.1:c.4569G>A NP_001365347.1:p.Pro1523= NC_000022.11:42210736:C:T p.(Pro1523=) NC_000022.11:42210736:C:T p.(Pro1523=) NC_000022.11:42210736:C:T Identity +NM_001257197.2:c.114G>A NP_001244126.1:p.Thr38= NC_000002.12:224535593:C:T p.(Thr38=) NC_000002.12:224535593:C:T p.(Thr38=) NC_000002.12:224535593:C:T Identity +NM_001410846.1:c.5298G>A NP_001397775.1:p.Lys1766= NC_000020.11:49033141:G:A p.(Lys1766=) NC_000020.11:49033141:G:A p.(Lys1766=) NC_000020.11:49033141:G:A Identity +NM_001317163.2:c.1731C>A NP_001304092.1:p.Leu577= NC_000009.12:121017645:G:T p.(Leu577=) NC_000009.12:121017645:G:T p.(Leu577=) NC_000009.12:121017645:G:T Identity +NM_001256850.1:c.26910T>G NP_001243779.1:p.Ser8970= NC_000002.12:178711968:A:C p.(Ser8970=) NC_000002.12:178711968:A:C p.(Ser8970=) NC_000002.12:178711968:A:C Identity +NM_001039590.3:c.4644T>A NP_001034679.2:p.Val1548= NC_000023.11:41201099:T:A p.(Val1548=) NC_000023.11:41201099:T:A p.(Val1548=) NC_000023.11:41201099:T:A Identity +NM_001377456.1:c.147C>T NP_001364385.1:p.Asn49= NC_000016.10:56514650:G:A p.(Asn49=) NC_000016.10:56514650:G:A p.(Asn49=) NC_000016.10:56514650:G:A Identity +NM_001136191.3:c.1914C>T NP_001129663.1:p.Pro638= NC_000019.10:11174626:G:A p.(Pro638=) NC_000019.10:11174626:G:A p.(Pro638=) NC_000019.10:11174626:G:A Identity +NM_001171971.3:c.507T>C NP_001165442.1:p.Ser169= NC_000010.11:84200668:T:C p.(Ser169=) NC_000010.11:84200668:T:C p.(Ser169=) NC_000010.11:84200668:T:C Identity +NM_005120.3:c.3426C>T NP_005111.2:p.Leu1142= NC_000023.11:71128668:C:T p.(Leu1142=) NC_000023.11:71128668:C:T p.(Leu1142=) NC_000023.11:71128668:C:T Identity +NM_001031714.4:c.1332C>G NP_001026884.3:p.Pro444= NC_000014.9:104707598:C:G p.(Pro444=) NC_000014.9:104707598:C:G p.(Pro444=) NC_000014.9:104707598:C:G Identity +NM_004586.3:c.2022C>T NP_004577.1:p.Leu674= NC_000023.11:20156186:G:A p.(Leu674=) NC_000023.11:20156186:G:A p.(Leu674=) NC_000023.11:20156186:G:A Identity +NM_000092.5:c.4572C>T NP_000083.3:p.Tyr1524= NC_000002.12:227008254:G:A p.(Tyr1524=) NC_000002.12:227008254:G:A p.(Tyr1524=) NC_000002.12:227008254:G:A Identity +NM_001164507.2:c.13425A>G NP_001157979.2:p.Ala4475= NC_000002.12:151601951:T:C p.(Ala4475=) NC_000002.12:151601951:T:C p.(Ala4475=) NC_000002.12:151601951:T:C Identity +NM_001305275.2:c.2121C>T NP_001292204.1:p.Phe707= NC_000001.11:1044229:C:T p.(Phe707=) NC_000001.11:1044229:C:T p.(Phe707=) NC_000001.11:1044229:C:T Identity +NM_000081.4:c.6489A>G NP_000072.2:p.Ala2163= NC_000001.11:235759363:T:C p.(Ala2163=) NC_000001.11:235759363:T:C p.(Ala2163=) NC_000001.11:235759363:T:C Identity +NM_001012985.2:c.276A>G NP_001013003.1:p.Gln92= NC_000001.11:234374382:A:G p.(Gln92=) NC_000001.11:234374382:A:G p.(Gln92=) NC_000001.11:234374382:A:G Identity +NM_025219.3:c.558C>T NP_079495.1:p.Ala186= NC_000020.11:63931528:C:T p.(Ala186=) NC_000020.11:63931528:C:T p.(Ala186=) NC_000020.11:63931528:C:T Identity +NM_001004334.4:c.5322G>A NP_001004334.3:p.Gln1774= NC_000017.11:38328246:C:T p.(Gln1774=) NC_000017.11:38328246:C:T p.(Gln1774=) NC_000017.11:38328246:C:T Identity +NM_000445.5:c.3614_3646del NP_000436.2:p.Arg1205_Trp1215del NC_000008.11:143927600:GCCAGCGCTCAAGCAACTGGGCGACCCGCTCCCGCCAGCGCTC:GCCAGCGCTC p.(Arg1205_Trp1215del) NC_000008.11:143927600:GCCAGCGCTCAAGCAACTGGGCGACCCGCTCCCGCCAGCGCTC:GCCAGCGCTC p.(Arg1205_Trp1215del) NC_000008.11:143927600:GCCAGCGCTCAAGCAACTGGGCGACCCGCTCCC: Identity +NM_001256468.2:c.1416G>A NP_001243397.1:p.Gln472= NC_000010.11:74975752:G:A p.(Gln472=) NC_000010.11:74975752:G:A p.(Gln472=) NC_000010.11:74975752:G:A Identity +NM_024652.6:c.3723C>T NP_078928.3:p.Ser1241= NC_000015.10:101052954:C:T p.(Ser1241=) NC_000015.10:101052954:C:T p.(Ser1241=) NC_000015.10:101052954:C:T Identity +NM_001258446.1:c.855G>A NP_001245375.1:p.Val285= NC_000008.11:143318083:C:T p.(Val285=) NC_000008.11:143318083:C:T p.(Val285=) NC_000008.11:143318083:C:T Identity +NM_001345867.2:c.393C>T NP_001332796.1:p.Ile131= NC_000004.12:44690745:C:T p.(Ile131=) NC_000004.12:44690745:C:T p.(Ile131=) NC_000004.12:44690745:C:T Identity +NM_001002019.3:c.360T>C NP_001002019.1:p.Gly120= NC_000012.12:131939174:T:C p.(Gly120=) NC_000012.12:131939174:T:C p.(Gly120=) NC_000012.12:131939174:T:C Identity +NM_001365360.2:c.561C>T NP_001352289.1:p.Asp187= NC_000016.10:28844820:G:A p.(Asp187=) NC_000016.10:28844820:G:A p.(Asp187=) NC_000016.10:28844820:G:A Identity +NM_001173467.3:c.114T>C NP_001166938.1:p.Thr38= NC_000012.12:53329327:A:G p.(Thr38=) NC_000012.12:53329327:A:G p.(Thr38=) NC_000012.12:53329327:A:G Identity +NM_001999.4:c.8331G>A NP_001990.2:p.Gln2777= NC_000005.10:128261768:C:T p.(Gln2777=) NC_000005.10:128261768:C:T p.(Gln2777=) NC_000005.10:128261768:C:T Identity +NM_014727.3:c.6540C>T NP_055542.1:p.Ala2180= NC_000019.10:35733088:C:T p.(Ala2180=) NC_000019.10:35733088:C:T p.(Ala2180=) NC_000019.10:35733088:C:T Identity +NM_001024218.2:c.1014G>C NP_001019389.1:p.Pro338= NC_000014.9:67058754:G:C p.(Pro338=) NC_000014.9:67058754:G:C p.(Pro338=) NC_000014.9:67058754:G:C Identity +NM_001082959.2:c.933G>A NP_001076428.1:p.Gly311= NC_000012.12:124807836:C:T p.(Gly311=) NC_000012.12:124807836:C:T p.(Gly311=) NC_000012.12:124807836:C:T Identity +NM_000718.4:c.6546C>T NP_000709.1:p.Pro2182= NC_000009.12:138121524:C:T p.(Pro2182=) NC_000009.12:138121524:C:T p.(Pro2182=) NC_000009.12:138121524:C:T Identity +NM_000789.4:c.2931C>T NP_000780.1:p.Thr977= NC_000017.11:63493453:C:T p.(Thr977=) NC_000017.11:63493453:C:T p.(Thr977=) NC_000017.11:63493453:C:T Identity +NM_004975.4:c.651C>G NP_004966.1:p.Leu217= NC_000020.11:49374908:G:C p.(Leu217=) NC_000020.11:49374908:G:C p.(Leu217=) NC_000020.11:49374908:G:C Identity +NM_004055.5:c.1239G>A NP_004046.2:p.Thr413= NC_000011.10:77119100:G:A p.(Thr413=) NC_000011.10:77119100:G:A p.(Thr413=) NC_000011.10:77119100:G:A Identity +NM_001256182.2:c.1674T>C NP_001243111.1:p.Ala558= NC_000016.10:89284867:A:G p.(Ala558=) NC_000016.10:89284867:A:G p.(Ala558=) NC_000016.10:89284867:A:G Identity +NM_001040142.2:c.792A>G NP_001035232.1:p.Leu264= NC_000002.12:165310416:A:G p.(Leu264=) NC_000002.12:165310416:A:G p.(Leu264=) NC_000002.12:165310416:A:G Identity +NM_000190.4:c.577C>T NP_000181.2:p.Leu193= NC_000011.10:119091490:C:T p.(Leu193=) NC_000011.10:119091490:C:T p.(Leu193=) NC_000011.10:119091490:C:T Identity +NM_001256468.2:c.4119C>T NP_001243397.1:p.Asp1373= NC_000010.11:75029491:C:T p.(Asp1373=) NC_000010.11:75029491:C:T p.(Asp1373=) NC_000010.11:75029491:C:T Identity +NM_015378.4:c.5604G>A NP_056193.2:p.Gln1868= NC_000001.11:12283705:G:A p.(Gln1868=) NC_000001.11:12283705:G:A p.(Gln1868=) NC_000001.11:12283705:G:A Identity +NM_000214.3:c.54C>T NP_000205.1:p.Leu18= NC_000020.11:10673476:G:A p.(Leu18=) NC_000020.11:10673476:G:A p.(Leu18=) NC_000020.11:10673476:G:A Identity +NM_001328.3:c.42C>T NP_001319.1:p.Gly14= NC_000004.12:1238335:G:A p.(Gly14=) NC_000004.12:1238335:G:A p.(Gly14=) NC_000004.12:1238335:G:A Identity +NM_001291285.3:c.11562A>G NP_001278214.1:p.Pro3854= NC_000004.12:125452571:A:G p.(Pro3854=) NC_000004.12:125452571:A:G p.(Pro3854=) NC_000004.12:125452571:A:G Identity +NM_001130955.2:c.2380C>T NP_001124427.2:p.Leu794= NC_000019.10:7467309:C:T p.(Leu794=) NC_000019.10:7467309:C:T p.(Leu794=) NC_000019.10:7467309:C:T Identity +NM_000151.4:c.399T>C NP_000142.2:p.Ser133= NC_000017.11:42907580:T:C p.(Ser133=) NC_000017.11:42907580:T:C p.(Ser133=) NC_000017.11:42907580:T:C Identity +NM_024656.4:c.708G>A NP_078932.2:p.Ser236= NC_000019.10:17568591:G:A p.(Ser236=) NC_000019.10:17568591:G:A p.(Ser236=) NC_000019.10:17568591:G:A Identity +NM_001101362.3:c.792C>T NP_001094832.1:p.Gly264= NC_000015.10:65077606:C:T p.(Gly264=) NC_000015.10:65077606:C:T p.(Gly264=) NC_000015.10:65077606:C:T Identity +NM_001370534.1:c.489C>T NP_001357463.1:p.Ala163= NC_000016.10:74660960:G:A p.(Ala163=) NC_000016.10:74660960:G:A p.(Ala163=) NC_000016.10:74660960:G:A Identity +NM_001258040.3:c.663T>G NP_001244969.1:p.Pro221= NC_000005.10:140677366:A:C p.(Pro221=) NC_000005.10:140677366:A:C p.(Pro221=) NC_000005.10:140677366:A:C Identity +NM_014714.4:c.4242C>T NP_055529.2:p.Tyr1414= NC_000016.10:1511090:G:A p.(Tyr1414=) NC_000016.10:1511090:G:A p.(Tyr1414=) NC_000016.10:1511090:G:A Identity +NM_001273.5:c.1767T>C NP_001264.2:p.Gly589= NC_000012.12:6598018:A:G p.(Gly589=) NC_000012.12:6598018:A:G p.(Gly589=) NC_000012.12:6598018:A:G Identity +NM_000263.4:c.1942T>C NP_000254.2:p.Leu648= NC_000017.11:42543947:T:C p.(Leu648=) NC_000017.11:42543947:T:C p.(Leu648=) NC_000017.11:42543947:T:C Identity +NM_001256850.1:c.86880C>A NP_001243779.1:p.Ala28960= NC_000002.12:178550034:G:T p.(Ala28960=) NC_000002.12:178550034:G:T p.(Ala28960=) NC_000002.12:178550034:G:T Identity +NM_000397.4:c.1194G>C NP_000388.2:p.Val398= NC_000023.11:37805047:G:C p.(Val398=) NC_000023.11:37805047:G:C p.(Val398=) NC_000023.11:37805047:G:C Identity +NM_001371271.1:c.1950C>T NP_001358200.1:p.Ser650= NC_000002.12:120984736:C:T p.(Ser650=) NC_000002.12:120984736:C:T p.(Ser650=) NC_000002.12:120984736:C:T Identity +NM_014845.6:c.1521T>C NP_055660.1:p.Tyr507= NC_000006.12:109765098:T:C p.(Tyr507=) NC_000006.12:109765098:T:C p.(Tyr507=) NC_000006.12:109765098:T:C Identity +NM_001321431.2:c.1845C>T NP_001308360.1:p.His615= NC_000019.10:8131698:G:A p.(His615=) NC_000019.10:8131698:G:A p.(His615=) NC_000019.10:8131698:G:A Identity +NM_032119.4:c.6246T>G NP_115495.3:p.Thr2082= NC_000005.10:90684166:T:G p.(Thr2082=) NC_000005.10:90684166:T:G p.(Thr2082=) NC_000005.10:90684166:T:G Identity +NM_001191028.3:c.369G>A NP_001177957.2:p.Lys123= NC_000007.14:129017008:C:T p.(Lys123=) NC_000007.14:129017008:C:T p.(Lys123=) NC_000007.14:129017008:C:T Identity +NM_001077690.1:c.27C>T NP_001071158.1:p.Arg9= NC_000011.10:111871455:G:A p.(Arg9=) NC_000011.10:111871455:G:A p.(Arg9=) NC_000011.10:111871455:G:A Identity +NM_001256789.3:c.3252C>T NP_001243718.1:p.Ala1084= NC_000023.11:49215527:G:A p.(Ala1084=) NC_000023.11:49215527:G:A p.(Ala1084=) NC_000023.11:49215527:G:A Identity +NM_001301012.2:c.924G>A NP_001287941.1:p.Pro308= NC_000006.12:133481577:G:A p.(Pro308=) NC_000006.12:133481577:G:A p.(Pro308=) NC_000006.12:133481577:G:A Identity +NM_001313726.2:c.1950A>G NP_001300655.1:p.Gln650= NC_000011.10:26599644:A:G p.(Gln650=) NC_000011.10:26599644:A:G p.(Gln650=) NC_000011.10:26599644:A:G Identity +NM_001320632.2:c.1017C>T NP_001307561.1:p.Gly339= NC_000002.12:127050849:G:A p.(Gly339=) NC_000002.12:127050849:G:A p.(Gly339=) NC_000002.12:127050849:G:A Identity +NM_006015.6:c.2673C>T NP_006006.3:p.Asn891= NC_000001.11:26763225:C:T p.(Asn891=) NC_000001.11:26763225:C:T p.(Asn891=) NC_000001.11:26763225:C:T Identity +NM_001350630.2:c.2256A>G NP_001337559.1:p.Ala752= NC_000001.11:223004381:A:G p.(Ala752=) NC_000001.11:223004381:A:G p.(Ala752=) NC_000001.11:223004381:A:G Identity +NM_001365023.1:c.894T>C NP_001351952.1:p.Cys298= NC_000009.12:74662574:T:C p.(Cys298=) NC_000009.12:74662574:T:C p.(Cys298=) NC_000009.12:74662574:T:C Identity +NM_001170649.2:c.639A>G NP_001164120.1:p.Glu213= NC_000023.11:65529753:T:C p.(Glu213=) NC_000023.11:65529753:T:C p.(Glu213=) NC_000023.11:65529753:T:C Identity +NM_001321378.2:c.4269A>T NP_001308307.1:p.Arg1423= NC_000011.10:17097113:T:A p.(Arg1423=) NC_000011.10:17097113:T:A p.(Arg1423=) NC_000011.10:17097113:T:A Identity +NM_002234.4:c.426C>T NP_002225.2:p.Pro142= NC_000012.12:5044572:C:T p.(Pro142=) NC_000012.12:5044572:C:T p.(Pro142=) NC_000012.12:5044572:C:T Identity +NM_001318219.1:c.3249C>G NP_001305148.1:p.Gly1083= NC_000020.11:35503513:C:G p.(Gly1083=) NC_000020.11:35503513:C:G p.(Gly1083=) NC_000020.11:35503513:C:G Identity +NM_001256071.3:c.8343C>T NP_001243000.2:p.Ile2781= NC_000017.11:80346677:C:T p.(Ile2781=) NC_000017.11:80346677:C:T p.(Ile2781=) NC_000017.11:80346677:C:T Identity +NM_001288781.1:c.858A>C NP_001275710.1:p.Ser286= NC_000014.9:88861232:A:C p.(Ser286=) NC_000014.9:88861232:A:C p.(Ser286=) NC_000014.9:88861232:A:C Identity +NM_017890.5:c.5001C>G NP_060360.3:p.Ala1667= NC_000008.11:99556629:C:G p.(Ala1667=) NC_000008.11:99556629:C:G p.(Ala1667=) NC_000008.11:99556629:C:G Identity +NM_001411020.1:c.1263A>G NP_001397949.1:p.Lys421= NC_000014.9:50159920:T:C p.(Lys421=) NC_000014.9:50159920:T:C p.(Lys421=) NC_000014.9:50159920:T:C Identity +NM_004268.5:c.402A>C NP_004259.3:p.Ala134= NC_000011.10:93788151:A:C p.(Ala134=) NC_000011.10:93788151:A:C p.(Ala134=) NC_000011.10:93788151:A:C Identity +NM_014510.3:c.6057C>T NP_055325.2:p.Ser2019= NC_000007.14:82954895:G:A p.(Ser2019=) NC_000007.14:82954895:G:A p.(Ser2019=) NC_000007.14:82954895:G:A Identity +NM_001160372.4:c.342G>A NP_001153844.1:p.Arg114= NC_000008.11:140451031:C:T p.(Arg114=) NC_000008.11:140451031:C:T p.(Arg114=) NC_000008.11:140451031:C:T Identity +NM_003482.4:c.8346C>G NP_003473.3:p.Ser2782= NC_000012.12:49039241:G:C p.(Ser2782=) NC_000012.12:49039241:G:C p.(Ser2782=) NC_000012.12:49039241:G:C Identity +NM_000142.5:c.936G>A NP_000133.1:p.Ala312= NC_000004.12:1803696:G:A p.(Ala312=) NC_000004.12:1803696:G:A p.(Ala312=) NC_000004.12:1803696:G:A Identity +NM_017649.5:c.2532C>T NP_060119.3:p.Asp844= NC_000010.11:103077083:C:T p.(Asp844=) NC_000010.11:103077083:C:T p.(Asp844=) NC_000010.11:103077083:C:T Identity +NM_001256789.3:c.1155C>A NP_001243718.1:p.Arg385= NC_000023.11:49227090:G:T p.(Arg385=) NC_000023.11:49227090:G:T p.(Arg385=) NC_000023.11:49227090:G:T Identity +NM_001161520.2:c.372A>G NP_001154992.2:p.Pro124= NC_000007.14:107548155:T:C p.(Pro124=) NC_000007.14:107548155:T:C p.(Pro124=) NC_000007.14:107548155:T:C Identity +NM_002470.4:c.3786C>T NP_002461.2:p.Gly1262= NC_000017.11:10637878:G:A p.(Gly1262=) NC_000017.11:10637878:G:A p.(Gly1262=) NC_000017.11:10637878:G:A Identity +NM_000843.4:c.1080C>T NP_000834.2:p.Phe360= NC_000005.10:178989337:G:A p.(Phe360=) NC_000005.10:178989337:G:A p.(Phe360=) NC_000005.10:178989337:G:A Identity +NM_000275.3:c.2370C>T NP_000266.2:p.Asn790= NC_000015.10:27845020:G:A p.(Asn790=) NC_000015.10:27845020:G:A p.(Asn790=) NC_000015.10:27845020:G:A Identity +NM_001294347.2:c.1362_1370del NP_001281276.1:p.455PPG[3] NC_000001.11:36098115:CCCGGAGGGCCCG:CCCG p.(Pro464_Gly466del) NC_000001.11:36098115:CCCGGAGGGCCCG:CCCG p.(Pro464_Gly466del) NC_000001.11:36098115:CCCGGAGGG: Analogous +NM_001102564.3:c.579A>G NP_001096034.1:p.Pro193= NC_000014.9:76083528:A:G p.(Pro193=) NC_000014.9:76083528:A:G p.(Pro193=) NC_000014.9:76083528:A:G Identity +NM_001006658.3:c.3201A>G NP_001006659.1:p.Thr1067= NC_000001.11:207485475:A:G p.(Thr1067=) NC_000001.11:207485475:A:G p.(Thr1067=) NC_000001.11:207485475:A:G Identity +NM_001447.3:c.12777C>G NP_001438.1:p.Pro4259= NC_000005.10:151505837:G:C p.(Pro4259=) NC_000005.10:151505837:G:C p.(Pro4259=) NC_000005.10:151505837:G:C Identity +NM_000426.4:c.4956C>T NP_000417.3:p.Thr1652= NC_000006.12:129369986:C:T p.(Thr1652=) NC_000006.12:129369986:C:T p.(Thr1652=) NC_000006.12:129369986:C:T Identity +NM_000739.3:c.171C>T NP_000730.1:p.Val57= NC_000007.14:137015035:C:T p.(Val57=) NC_000007.14:137015035:C:T p.(Val57=) NC_000007.14:137015035:C:T Identity +NM_021619.3:c.708G>C NP_067632.2:p.Ala236= NC_000009.12:130681272:G:C p.(Ala236=) NC_000009.12:130681272:G:C p.(Ala236=) NC_000009.12:130681272:G:C Identity +NM_001160227.2:c.4230G>A NP_001153699.1:p.Leu1410= NC_000015.10:44596286:C:T p.(Leu1410=) NC_000015.10:44596286:C:T p.(Leu1410=) NC_000015.10:44596286:C:T Identity +NM_000308.4:c.846T>C NP_000299.3:p.Ala282= NC_000020.11:45894717:T:C p.(Ala282=) NC_000020.11:45894717:T:C p.(Ala282=) NC_000020.11:45894717:T:C Identity +NM_001414505.1:c.798C>T NP_001401434.1:p.Ala266= NC_000021.9:33268481:C:T p.(Ala266=) NC_000021.9:33268481:C:T p.(Ala266=) NC_000021.9:33268481:C:T Identity +NM_001351527.2:c.2964A>G NP_001338456.1:p.Gln988= NC_000009.12:132328633:T:C p.(Gln988=) NC_000009.12:132328633:T:C p.(Gln988=) NC_000009.12:132328633:T:C Identity +NM_001164507.2:c.9444G>A NP_001157979.2:p.Leu3148= NC_000002.12:151631316:C:T p.(Leu3148=) NC_000002.12:151631316:C:T p.(Leu3148=) NC_000002.12:151631316:C:T Identity +NM_001291285.3:c.2118C>T NP_001278214.1:p.Ser706= NC_000004.12:125318528:C:T p.(Ser706=) NC_000004.12:125318528:C:T p.(Ser706=) NC_000004.12:125318528:C:T Identity +NM_000048.4:c.888C>T NP_000039.2:p.Ile296= NC_000007.14:66089144:C:T p.(Ile296=) NC_000007.14:66089144:C:T p.(Ile296=) NC_000007.14:66089144:C:T Identity +NM_001164507.2:c.23430G>A NP_001157979.2:p.Glu7810= NC_000002.12:151508025:C:T p.(Glu7810=) NC_000002.12:151508025:C:T p.(Glu7810=) NC_000002.12:151508025:C:T Identity +NM_001271052.1:c.282C>T NP_001257981.1:p.Cys94= NC_000019.10:14772414:G:A p.(Cys94=) NC_000019.10:14772414:G:A p.(Cys94=) NC_000019.10:14772414:G:A Identity +NM_000028.3:c.2325A>C NP_000019.2:p.Val775= NC_000001.11:99884135:A:C p.(Val775=) NC_000001.11:99884135:A:C p.(Val775=) NC_000001.11:99884135:A:C Identity +NM_001271620.2:c.2439G>A NP_001258549.1:p.Glu813= NC_000016.10:49636532:C:T p.(Glu813=) NC_000016.10:49636532:C:T p.(Glu813=) NC_000016.10:49636532:C:T Identity +NM_001134335.2:c.1746C>T NP_001127807.1:p.Phe582= NC_000007.14:6026742:G:A p.(Phe582=) NC_000007.14:6026742:G:A p.(Phe582=) NC_000007.14:6026742:G:A Identity +NM_005245.4:c.13590C>T NP_005236.2:p.Pro4530= NC_000004.12:186588768:G:A p.(Pro4530=) NC_000004.12:186588768:G:A p.(Pro4530=) NC_000004.12:186588768:G:A Identity +NM_001105077.4:c.2664G>A NP_001098547.3:p.Ser888= NC_000003.12:169093088:C:T p.(Ser888=) NC_000003.12:169093088:C:T p.(Ser888=) NC_000003.12:169093088:C:T Identity +NM_000238.4:c.750G>A NP_000229.1:p.Ser250= NC_000007.14:150958224:C:T p.(Ser250=) NC_000007.14:150958224:C:T p.(Ser250=) NC_000007.14:150958224:C:T Identity +NM_002848.4:c.639C>T NP_002839.1:p.His213= NC_000012.12:15499571:C:T p.(His213=) NC_000012.12:15499571:C:T p.(His213=) NC_000012.12:15499571:C:T Identity +NM_001346113.2:c.690C>T NP_001333042.2:p.Ser230= NC_000005.10:131710593:G:A p.(Ser230=) NC_000005.10:131710593:G:A p.(Ser230=) NC_000005.10:131710593:G:A Identity +NM_022356.4:c.2130C>T NP_071751.3:p.Pro710= NC_000001.11:42746777:G:A p.(Pro710=) NC_000001.11:42746777:G:A p.(Pro710=) NC_000001.11:42746777:G:A Identity +NM_001135597.2:c.3450T>C NP_001129069.1:p.Ser1150= NC_000002.12:55317712:A:G p.(Ser1150=) NC_000002.12:55317712:A:G p.(Ser1150=) NC_000002.12:55317712:A:G Identity +NM_001079846.1:c.2487A>G NP_001073315.1:p.Pro829= NC_000016.10:3770848:T:C p.(Pro829=) NC_000016.10:3770848:T:C p.(Pro829=) NC_000016.10:3770848:T:C Identity +NM_001042472.3:c.747T>C NP_001035937.1:p.Thr249= NC_000020.11:25309447:A:G p.(Thr249=) NC_000020.11:25309447:A:G p.(Thr249=) NC_000020.11:25309447:A:G Identity +NM_005055.5:c.1137C>T NP_005046.2:p.Ala379= NC_000011.10:47438760:G:A p.(Ala379=) NC_000011.10:47438760:G:A p.(Ala379=) NC_000011.10:47438760:G:A Identity +NM_001303256.3:c.2187C>G NP_001290185.1:p.Leu729= NC_000022.11:30934786:G:C p.(Leu729=) NC_000022.11:30934786:G:C p.(Leu729=) NC_000022.11:30934786:G:C Identity +NM_001363520.3:c.948T>C NP_001350449.1:p.Ile316= NC_000004.12:127921724:A:G p.(Ile316=) NC_000004.12:127921724:A:G p.(Ile316=) NC_000004.12:127921724:A:G Identity +NM_000094.4:c.3891G>A NP_000085.1:p.Glu1297= NC_000003.12:48585559:C:T p.(Glu1297=) NC_000003.12:48585559:C:T p.(Glu1297=) NC_000003.12:48585559:C:T Identity +NM_001013840.1:c.1113C>A NP_001013862.1:p.Gly371= NC_000010.11:95684534:G:T ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found +NM_001290185.2:c.2233C>T NP_001277114.1:p.Leu745= NC_000011.10:119078993:C:T p.(Leu745=) NC_000011.10:119078993:C:T p.(Leu745=) NC_000011.10:119078993:C:T Identity +NM_003737.4:c.6747C>T NP_003728.1:p.Ala2249= NC_000011.10:6625711:G:A p.(Ala2249=) NC_000011.10:6625711:G:A p.(Ala2249=) NC_000011.10:6625711:G:A Identity +NM_001453.3:c.1020G>A NP_001444.2:p.Ser340= NC_000006.12:1611464:G:A p.(Ser340=) NC_000006.12:1611464:G:A p.(Ser340=) NC_000006.12:1611464:G:A Identity +NM_130468.4:c.1038C>T NP_569735.1:p.Ala346= NC_000015.10:40472250:C:T p.(Ala346=) NC_000015.10:40472250:C:T p.(Ala346=) NC_000015.10:40472250:C:T Identity +NM_006755.2:c.543G>A NP_006746.1:p.Ala181= NC_000011.10:763424:G:A p.(Ala181=) NC_000011.10:763424:G:A p.(Ala181=) NC_000011.10:763424:G:A Identity +NM_001363813.1:c.153C>T NP_001350742.1:p.Val51= NC_000017.11:65558467:G:A p.(Val51=) NC_000017.11:65558467:G:A p.(Val51=) NC_000017.11:65558467:G:A Identity +NM_001005360.3:c.1977G>A NP_001005360.1:p.Leu659= NC_000019.10:10825139:G:A p.(Leu659=) NC_000019.10:10825139:G:A p.(Leu659=) NC_000019.10:10825139:G:A Identity +NM_000109.4:c.2955A>G NP_000100.3:p.Gln985= NC_000023.11:32468680:T:C p.(Gln985=) NC_000023.11:32468680:T:C p.(Gln985=) NC_000023.11:32468680:T:C Identity +NM_001199922.2:c.1359A>G NP_001186851.1:p.Glu453= NC_000011.10:124637058:T:C p.(Glu453=) NC_000011.10:124637058:T:C p.(Glu453=) NC_000011.10:124637058:T:C Identity +NM_001378454.1:c.9414T>C NP_001365383.1:p.Ile3138= NC_000002.12:73491372:T:C p.(Ile3138=) NC_000002.12:73491372:T:C p.(Ile3138=) NC_000002.12:73491372:T:C Identity +NM_001261406.2:c.5370G>A NP_001248335.1:p.Val1790= NC_000009.12:13114018:C:T p.(Val1790=) NC_000009.12:13114018:C:T p.(Val1790=) NC_000009.12:13114018:C:T Identity +NM_024529.5:c.672T>A NP_078805.3:p.Ile224= NC_000001.11:193142008:T:A p.(Ile224=) NC_000001.11:193142008:T:A p.(Ile224=) NC_000001.11:193142008:T:A Identity +NM_001164507.2:c.20139C>T NP_001157979.2:p.Val6713= NC_000002.12:151548325:G:A p.(Val6713=) NC_000002.12:151548325:G:A p.(Val6713=) NC_000002.12:151548325:G:A Identity +NM_001256850.1:c.31566T>C NP_001243779.1:p.Ala10522= NC_000002.12:178684942:A:G p.(Ala10522=) NC_000002.12:178684942:A:G p.(Ala10522=) NC_000002.12:178684942:A:G Identity +NM_005562.3:c.3297C>G NP_005553.2:p.Leu1099= NC_000001.11:183240359:C:G p.(Leu1099=) NC_000001.11:183240359:C:G p.(Leu1099=) NC_000001.11:183240359:C:G Identity +NM_014510.3:c.12264T>G NP_055325.2:p.Ser4088= NC_000007.14:82915721:A:C p.(Ser4088=) NC_000007.14:82915721:A:C p.(Ser4088=) NC_000007.14:82915721:A:C Identity +NM_001256850.1:c.13689A>G NP_001243779.1:p.Ala4563= NC_000002.12:178735805:T:C p.(Ala4563=) NC_000002.12:178735805:T:C p.(Ala4563=) NC_000002.12:178735805:T:C Identity +NM_033118.4:c.666G>A NP_149109.1:p.Gly222= NC_000020.11:31821630:G:A p.(Gly222=) NC_000020.11:31821630:G:A p.(Gly222=) NC_000020.11:31821630:G:A Identity +NM_001195286.2:c.1194G>A NP_001182215.1:p.Lys398= NC_000006.12:405114:G:A p.(Lys398=) NC_000006.12:405114:G:A p.(Lys398=) NC_000006.12:405114:G:A Identity +NM_000109.4:c.255T>C NP_000100.3:p.Asn85= NC_000023.11:32823372:A:G p.(Asn85=) NC_000023.11:32823372:A:G p.(Asn85=) NC_000023.11:32823372:A:G Identity +NM_001318186.2:c.813A>C NP_001305115.1:p.Gly271= NC_000009.12:83971949:T:G p.(Gly271=) NC_000009.12:83971949:T:G p.(Gly271=) NC_000009.12:83971949:T:G Identity +NM_000102.4:c.15G>T NP_000093.1:p.Val5= NC_000010.11:102837346:C:A p.(Val5=) NC_000010.11:102837346:C:A p.(Val5=) NC_000010.11:102837346:C:A Identity +NM_000101.4:c.171G>A NP_000092.2:p.Gly57= NC_000016.10:88647132:C:T p.(Gly57=) NC_000016.10:88647132:C:T p.(Gly57=) NC_000016.10:88647132:C:T Identity +NM_001201459.2:c.399A>G NP_001188388.1:p.Arg133= NC_000002.12:27378680:T:C p.(Arg133=) NC_000002.12:27378680:T:C p.(Arg133=) NC_000002.12:27378680:T:C Identity +NM_012213.3:c.519G>C NP_036345.2:p.Pro173= NC_000016.10:83899662:G:C p.(Pro173=) NC_000016.10:83899662:G:C p.(Pro173=) NC_000016.10:83899662:G:C Identity +NM_001318245.2:c.1278G>A NP_001305174.1:p.Val426= NC_000022.11:25769193:G:A p.(Val426=) NC_000022.11:25769193:G:A p.(Val426=) NC_000022.11:25769193:G:A Identity +NM_001407571.1:c.3072A>G NP_001394500.1:p.Lys1024= NC_000017.11:43092245:T:C p.(Lys1024=) NC_000017.11:43092245:T:C p.(Lys1024=) NC_000017.11:43092245:T:C Identity +NM_001376.5:c.1185A>G NP_001367.2:p.Val395= NC_000014.9:101983241:A:G p.(Val395=) NC_000014.9:101983241:A:G p.(Val395=) NC_000014.9:101983241:A:G Identity +NM_001130455.2:c.3921C>T NP_001123927.1:p.Asp1307= NC_000002.12:71611258:C:T p.(Asp1307=) NC_000002.12:71611258:C:T p.(Asp1307=) NC_000002.12:71611258:C:T Identity +NM_030930.4:c.561G>T NP_112192.2:p.Ala187= NC_000011.10:67999298:C:A p.(Ala187=) NC_000011.10:67999298:C:A p.(Ala187=) NC_000011.10:67999298:C:A Identity +NM_000260.4:c.660C>T NP_000251.3:p.His220= NC_000011.10:77156928:C:T p.(His220=) NC_000011.10:77156928:C:T p.(His220=) NC_000011.10:77156928:C:T Identity +NM_002900.3:c.1914C>A NP_002891.1:p.Ala638= NC_000010.11:47350397:C:A p.(Ala638=) NC_000010.11:47350397:C:A p.(Ala638=) NC_000010.11:47350397:C:A Identity +NM_020754.4:c.2610C>T NP_065805.2:p.Ile870= NC_000003.12:119414538:C:T p.(Ile870=) NC_000003.12:119414538:C:T p.(Ile870=) NC_000003.12:119414538:C:T Identity +NM_001291088.2:c.1680_1685delinsTGCTGTCTGATACTCTTGCCCAAGCTG NP_001278017.1:p.Thr561_His562delinsAlaValTer NC_000019.10:37894017:TGTGTT:CAGCTTGGGCAAGAGTATCAGACAGCA p.(Thr561_His562delinsAlaValTerTyrSerCysProSerCys) NC_000019.10:37894017:TGTGTT:CAGCTTGGGCAAGAGTATCAGACAGCA p.(Thr561_His562delinsAlaValTerTyrSerCysProSerCys) NC_000019.10:37894017:TGTGTT:CAGCTTGGGCAAGAGTATCAGACAGCA Analogous +NM_001258446.1:c.762G>C NP_001245375.1:p.Pro254= NC_000008.11:143321290:C:G p.(Pro254=) NC_000008.11:143321290:C:G p.(Pro254=) NC_000008.11:143321290:C:G Identity +NM_000349.3:c.12G>C NP_000340.2:p.Ala4= NC_000008.11:38150806:C:G p.(Ala4=) NC_000008.11:38150806:C:G p.(Ala4=) NC_000008.11:38150806:C:G Identity +NM_005045.4:c.9108G>A NP_005036.2:p.Val3036= NC_000007.14:103496610:C:T p.(Val3036=) NC_000007.14:103496610:C:T p.(Val3036=) NC_000007.14:103496610:C:T Identity +NM_001363520.3:c.105A>G NP_001350449.1:p.Arg35= NC_000004.12:127957549:T:C p.(Arg35=) NC_000004.12:127957549:T:C p.(Arg35=) NC_000004.12:127957549:T:C Identity +NM_001130066.2:c.2343C>T NP_001123538.1:p.Pro781= NC_000006.12:33442936:C:T p.(Pro781=) NC_000006.12:33442936:C:T p.(Pro781=) NC_000006.12:33442936:C:T Identity +NM_001024218.2:c.1995A>G NP_001019389.1:p.Val665= NC_000014.9:67179591:A:G p.(Val665=) NC_000014.9:67179591:A:G p.(Val665=) NC_000014.9:67179591:A:G Identity +NM_012327.6:c.2764C>T NP_036459.1:p.Leu922= NC_000018.10:62045887:G:A p.(Leu922=) NC_000018.10:62045887:G:A p.(Leu922=) NC_000018.10:62045887:G:A Identity +NM_001007204.1:c.732G>C NP_001007205.1:p.Leu244= NC_000001.11:156871636:G:C ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_001164507.2:c.24447G>A NP_001157979.2:p.Glu8149= NC_000002.12:151496314:C:T p.(Glu8149=) NC_000002.12:151496314:C:T p.(Glu8149=) NC_000002.12:151496314:C:T Identity +NM_005562.3:c.3462C>T NP_005553.2:p.Gly1154= NC_000001.11:183243279:C:T p.(Gly1154=) NC_000001.11:183243279:C:T p.(Gly1154=) NC_000001.11:183243279:C:T Identity +NM_001013838.3:c.1557A>G NP_001013860.1:p.Ala519= NC_000016.10:67648939:A:G p.(Ala519=) NC_000016.10:67648939:A:G p.(Ala519=) NC_000016.10:67648939:A:G Identity +NM_015909.4:c.2121A>T NP_056993.2:p.Ala707= NC_000002.12:15461767:T:A p.(Ala707=) NC_000002.12:15461767:T:A p.(Ala707=) NC_000002.12:15461767:T:A Identity +NM_001127218.3:c.918C>A NP_001120690.1:p.Leu306= NC_000007.14:44116215:G:T p.(Leu306=) NC_000007.14:44116215:G:T p.(Leu306=) NC_000007.14:44116215:G:T Identity +NM_001042494.2:c.2733G>A NP_001035959.1:p.Glu911= NC_000015.10:34237442:C:T p.(Glu911=) NC_000015.10:34237442:C:T p.(Glu911=) NC_000015.10:34237442:C:T Identity +NM_206933.4:c.5394A>G NP_996816.3:p.Gly1798= NC_000001.11:216078266:T:C p.(Gly1798=) NC_000001.11:216078266:T:C p.(Gly1798=) NC_000001.11:216078266:T:C Identity +NM_152443.3:c.786G>A NP_689656.2:p.Ala262= NC_000014.9:67729317:G:A p.(Ala262=) NC_000014.9:67729317:G:A p.(Ala262=) NC_000014.9:67729317:G:A Identity +NM_001100913.3:c.2229G>T NP_001094383.2:p.Ser743= NC_000014.9:105391739:G:T p.(Ser743=) NC_000014.9:105391739:G:T p.(Ser743=) NC_000014.9:105391739:G:T Identity +NM_001386500.1:c.3108C>A NP_001373429.1:p.Thr1036= NC_000001.11:11216156:G:T p.(Thr1036=) NC_000001.11:11216156:G:T p.(Thr1036=) NC_000001.11:11216156:G:T Identity +NM_001167595.2:c.222T>C NP_001161067.1:p.Asp74= NC_000005.10:34007797:A:G p.(Asp74=) NC_000005.10:34007797:A:G p.(Asp74=) NC_000005.10:34007797:A:G Identity +NM_022095.4:c.655C>T NP_071378.1:p.Leu219= NC_000020.11:45967892:G:A p.(Leu219=) NC_000020.11:45967892:G:A p.(Leu219=) NC_000020.11:45967892:G:A Identity +NM_002900.3:c.975C>T NP_002891.1:p.Ala325= NC_000010.11:47349458:C:T p.(Ala325=) NC_000010.11:47349458:C:T p.(Ala325=) NC_000010.11:47349458:C:T Identity +NM_031935.3:c.16647A>G NP_114141.2:p.Gln5549= NC_000001.11:186189616:A:G p.(Gln5549=) NC_000001.11:186189616:A:G p.(Gln5549=) NC_000001.11:186189616:A:G Identity +NM_032228.6:c.1200T>C NP_115604.1:p.Val400= NC_000011.10:13721801:T:C p.(Val400=) NC_000011.10:13721801:T:C p.(Val400=) NC_000011.10:13721801:T:C Identity +NM_005334.3:c.4521G>A NP_005325.2:p.Ser1507= NC_000023.11:153952934:C:T p.(Ser1507=) NC_000023.11:153952934:C:T p.(Ser1507=) NC_000023.11:153952934:C:T Identity +NM_001278593.2:c.909C>T NP_001265522.1:p.Arg303= NC_000014.9:74067473:G:A p.(Arg303=) NC_000014.9:74067473:G:A p.(Arg303=) NC_000014.9:74067473:G:A Identity +NM_003907.3:c.402C>T NP_003898.2:p.Val134= NC_000003.12:184137700:C:T p.(Val134=) NC_000003.12:184137700:C:T p.(Val134=) NC_000003.12:184137700:C:T Identity +NM_001349253.2:c.5277A>G NP_001336182.1:p.Gln1759= NC_000003.12:38846792:T:C p.(Gln1759=) NC_000003.12:38846792:T:C p.(Gln1759=) NC_000003.12:38846792:T:C Identity +NM_020461.4:c.4815G>A NP_065194.3:p.Arg1605= NC_000022.11:50218708:C:T p.(Arg1605=) NC_000022.11:50218708:C:T p.(Arg1605=) NC_000022.11:50218708:C:T Identity +NM_001363518.2:c.996G>A NP_001350447.1:p.Gln332= NC_000010.11:71362409:G:A p.(Gln332=) NC_000010.11:71362409:G:A p.(Gln332=) NC_000010.11:71362409:G:A Identity +NM_001385125.1:c.39T>C NP_001372054.1:p.Ser13= NC_000007.14:128775742:A:G p.(Ser13=) NC_000007.14:128775742:A:G p.(Ser13=) NC_000007.14:128775742:A:G Identity +NM_020451.3:c.246C>T NP_065184.2:p.Asp82= NC_000001.11:25801104:C:T p.(Asp82=) NC_000001.11:25801104:C:T p.? NC_000001.11:25801104:C:T Identity +NM_000411.8:c.1614C>A NP_000402.3:p.Ile538= NC_000021.9:36765077:G:T p.(Ile538=) NC_000021.9:36765077:G:T p.(Ile538=) NC_000021.9:36765077:G:T Identity +NM_001014797.3:c.972A>G NP_001014797.1:p.Ser324= NC_000010.11:77110331:T:C p.(Ser324=) NC_000010.11:77110331:T:C p.(Ser324=) NC_000010.11:77110331:T:C Identity +NM_001018037.2:c.7152A>G NP_001018047.1:p.Glu2384= NC_000009.12:77345121:A:G p.(Glu2384=) NC_000009.12:77345121:A:G p.(Glu2384=) NC_000009.12:77345121:A:G Identity +NM_000094.4:c.3909A>C NP_000085.1:p.Ala1303= NC_000003.12:48585101:T:G p.(Ala1303=) NC_000003.12:48585101:T:G p.(Ala1303=) NC_000003.12:48585101:T:G Identity +NM_001304536.2:c.1375C>T NP_001291465.1:p.Leu459= NC_000002.12:221457933:G:A p.(Leu459=) NC_000002.12:221457933:G:A p.(Leu459=) NC_000002.12:221457933:G:A Identity +NM_001308258.2:c.966T>C NP_001295187.1:p.Asn322= NC_000003.12:149155166:T:C p.(Asn322=) NC_000003.12:149155166:T:C p.(Asn322=) NC_000003.12:149155166:T:C Identity +NM_000243.3:c.939C>T NP_000234.1:p.Pro313= NC_000016.10:3249751:G:A p.(Pro313=) NC_000016.10:3249751:G:A p.(Pro313=) NC_000016.10:3249751:G:A Identity +NM_001318369.2:c.1233C>T NP_001305298.1:p.Ala411= NC_000011.10:20638523:C:T p.(Ala411=) NC_000011.10:20638523:C:T p.(Ala411=) NC_000011.10:20638523:C:T Identity +NM_004373.4:c.81C>A NP_004364.2:p.Gly27= NC_000012.12:120438206:C:A p.(Gly27=) NC_000012.12:120438206:C:A p.(Gly27=) NC_000012.12:120438206:C:A Identity +NM_032119.4:c.7737G>C NP_115495.3:p.Val2579= NC_000005.10:90694492:G:C p.(Val2579=) NC_000005.10:90694492:G:C p.(Val2579=) NC_000005.10:90694492:G:C Identity +NM_024652.6:c.4338T>C NP_078928.3:p.Asp1446= NC_000015.10:101056860:T:C p.(Asp1446=) NC_000015.10:101056860:T:C p.(Asp1446=) NC_000015.10:101056860:T:C Identity +NM_001166136.2:c.2052C>T NP_001159608.1:p.Leu684= NC_000004.12:5622745:G:A p.(Leu684=) NC_000004.12:5622745:G:A p.(Leu684=) NC_000004.12:5622745:G:A Identity +NM_001367904.1:c.96G>A NP_001354833.1:p.Leu32= NC_000011.10:117780760:C:T p.(Leu32=) NC_000011.10:117780760:C:T p.(Leu32=) NC_000011.10:117780760:C:T Identity +NM_000445.5:c.1869G>A NP_000436.2:p.Arg623= NC_000008.11:143932661:C:T p.(Arg623=) NC_000008.11:143932661:C:T p.(Arg623=) NC_000008.11:143932661:C:T Identity +NM_003906.5:c.4989G>A NP_003897.2:p.Gln1663= NC_000021.9:46244855:C:T p.(Gln1663=) NC_000021.9:46244855:C:T p.(Gln1663=) NC_000021.9:46244855:C:T Identity +LRG_741t1:c.8832A>G LRG_741p1:p.Arg2944= NC_000002.12:73490787:A:G ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_741t1 not found +NM_001386500.1:c.1443A>T NP_001373429.1:p.Thr481= NC_000001.11:11241650:T:A p.(Thr481=) NC_000001.11:11241650:T:A p.(Thr481=) NC_000001.11:11241650:T:A Identity +NM_001004356.3:c.960C>A NP_001004356.1:p.Leu320= NC_000004.12:1024551:C:A p.(Leu320=) NC_000004.12:1024551:C:A p.(Leu320=) NC_000004.12:1024551:C:A Identity +NM_000188.3:c.762G>A NP_000179.2:p.Arg254= NC_000010.11:69369510:G:A p.(Arg254=) NC_000010.11:69369510:G:A p.(Arg254=) NC_000010.11:69369510:G:A Identity +NM_014975.3:c.4581C>T NP_055790.1:p.Val1527= NC_000019.10:12874737:C:T p.(Val1527=) NC_000019.10:12874737:C:T p.(Val1527=) NC_000019.10:12874737:C:T Identity +NM_001160036.2:c.1170C>T NP_001153508.1:p.Asp390= NC_000008.11:23007348:C:T p.(Asp390=) NC_000008.11:23007348:C:T p.(Asp390=) NC_000008.11:23007348:C:T Identity +NM_004946.3:c.4584C>T NP_004937.1:p.Ser1528= NC_000005.10:170067625:C:T p.(Ser1528=) NC_000005.10:170067625:C:T p.(Ser1528=) NC_000005.10:170067625:C:T Identity +NM_001017995.3:c.1059C>T NP_001017995.1:p.Thr353= NC_000005.10:172347285:G:A p.(Thr353=) NC_000005.10:172347285:G:A p.(Thr353=) NC_000005.10:172347285:G:A Identity +NM_001184985.2:c.6840T>C NP_001171914.1:p.Ser2280= NC_000012.12:896546:T:C p.(Ser2280=) NC_000012.12:896546:T:C p.(Ser2280=) NC_000012.12:896546:T:C Identity +NM_001160302.2:c.3609G>A NP_001153774.1:p.Leu1203= NC_000021.9:32639710:C:T p.(Leu1203=) NC_000021.9:32639710:C:T p.(Leu1203=) NC_000021.9:32639710:C:T Identity +NM_001330343.2:c.565T>A NP_001317272.1:p.Ter189Arg NC_000012.12:8604285:A:T p.(Ter189ArgextTer1) NC_000012.12:8604285:A:T p.(Ter189ArgextTer1) NC_000012.12:8604285:A:T Analogous +NM_014510.3:c.3291T>C NP_055325.2:p.His1097= NC_000007.14:83134258:A:G p.(His1097=) NC_000007.14:83134258:A:G p.(His1097=) NC_000007.14:83134258:A:G Identity +NM_001127505.3:c.708A>C NP_001120977.1:p.Gly236= NC_000008.11:18061435:T:G p.(Gly236=) NC_000008.11:18061435:T:G p.(Gly236=) NC_000008.11:18061435:T:G Identity +NM_001367830.1:c.1362A>T NP_001354759.1:p.Leu454= NC_000019.10:11243281:T:A p.(Leu454=) NC_000019.10:11243281:T:A p.(Leu454=) NC_000019.10:11243281:T:A Identity +NM_001293306.2:c.1578T>C NP_001280235.2:p.Phe526= NC_000003.12:38752395:A:G p.(Phe526=) NC_000003.12:38752395:A:G p.(Phe526=) NC_000003.12:38752395:A:G Identity +NM_001126131.2:c.600G>A NP_001119603.1:p.Glu200= NC_000015.10:89333154:C:T p.(Glu200=) NC_000015.10:89333154:C:T p.(Glu200=) NC_000015.10:89333154:C:T Identity +NM_000036.3:c.1734C>T NP_000027.3:p.Ala578= NC_000001.11:114674817:G:A p.(Ala578=) NC_000001.11:114674817:G:A p.(Ala578=) NC_000001.11:114674817:G:A Identity +NM_001330360.2:c.399A>G NP_001317289.1:p.Ala133= NC_000023.11:24714605:A:G p.(Ala133=) NC_000023.11:24714605:A:G p.(Ala133=) NC_000023.11:24714605:A:G Identity +NM_007227.3:c.276C>T NP_009158.3:p.Ala92= NC_000002.12:105242133:C:T p.(Ala92=) NC_000002.12:105242133:C:T p.(Ala92=) NC_000002.12:105242133:C:T Identity +NM_001145293.2:c.1869A>G NP_001138765.1:p.Glu623= NC_000003.12:25719501:T:C p.(Glu623=) NC_000003.12:25719501:T:C p.(Glu623=) NC_000003.12:25719501:T:C Identity +NM_001358529.2:c.1377C>T NP_001345458.1:p.Pro459= NC_000006.12:39906842:G:A p.(Pro459=) NC_000006.12:39906842:G:A p.(Pro459=) NC_000006.12:39906842:G:A Identity +NM_001111034.3:c.333T>C NP_001104504.1:p.His111= NC_000019.10:11576771:A:G p.(His111=) NC_000019.10:11576771:A:G p.(His111=) NC_000019.10:11576771:A:G Identity +NM_001363746.1:c.540G>C NP_001350675.1:p.Ser180= NC_000009.12:136198940:C:G p.(Ser180=) NC_000009.12:136198940:C:G p.(Ser180=) NC_000009.12:136198940:C:G Identity +NM_001321135.2:c.201G>A NP_001308064.1:p.Gln67= NC_000015.10:77018519:G:A p.(Gln67=) NC_000015.10:77018519:G:A p.(Gln67=) NC_000015.10:77018519:G:A Identity +NM_006516.4:c.442_444dup NP_006507.2:p.Ser148_Pro149insSer NC_000001.11:42930697:TGA:TGATGA p.(Ser148dup) NC_000001.11:42930697:TGA:TGATGA p.(Ser148dup) ERR:SPDI Analogous +NM_000158.4:c.276C>T NP_000149.4:p.Ala92= NC_000003.12:81705480:G:A p.(Ala92=) NC_000003.12:81705480:G:A p.(Ala92=) NC_000003.12:81705480:G:A Identity +NM_001330540.2:c.204G>T NP_001317469.1:p.Gly68= NC_000001.11:45508309:G:T p.(Gly68=) NC_000001.11:45508309:G:T p.(Gly68=) NC_000001.11:45508309:G:T Identity +NM_032888.4:c.3573G>A NP_116277.2:p.Glu1191= NC_000009.12:114270744:G:A p.(Glu1191=) NC_000009.12:114270744:G:A p.(Glu1191=) NC_000009.12:114270744:G:A Identity +NM_000228.3:c.1683G>T NP_000219.2:p.Gly561= NC_000001.11:209625940:C:A p.(Gly561=) NC_000001.11:209625940:C:A p.(Gly561=) NC_000001.11:209625940:C:A Identity +NM_001256850.1:c.43983C>T NP_001243779.1:p.Asp14661= NC_000002.12:178614607:G:A p.(Asp14661=) NC_000002.12:178614607:G:A p.(Asp14661=) NC_000002.12:178614607:G:A Identity +NM_000051.4:c.1320T>G NP_000042.3:p.Ser440= NC_000011.10:108250784:T:G p.(Ser440=) NC_000011.10:108250784:T:G p.(Ser440=) NC_000011.10:108250784:T:G Identity +NM_138694.4:c.12168C>T NP_619639.3:p.Ala4056= NC_000006.12:51619137:G:A p.(Ala4056=) NC_000006.12:51619137:G:A p.(Ala4056=) NC_000006.12:51619137:G:A Identity +NM_001039375.3:c.582C>G NP_001034464.1:p.Val194= NC_000020.11:13801631:C:G p.(Val194=) NC_000020.11:13801631:C:G p.(Val194=) NC_000020.11:13801631:C:G Identity +NM_001136138.4:c.2673G>A NP_001129610.1:p.Glu891= NC_000001.11:213242184:G:A p.(Glu891=) NC_000001.11:213242184:G:A p.(Glu891=) NC_000001.11:213242184:G:A Identity +NM_001042594.2:c.132_133insCCA NP_001036059.1:p.Asp44_Gly45insPro NC_000007.14:124863370::TGG p.(Asp44_Gly45insPro) NC_000007.14:124863369:C:TGG p.(Asp44_Gly45insPro) NC_000007.14:124863370:CG:TGG Identity +NM_003895.4:c.114G>A NP_003886.3:p.Arg38= NC_000021.9:32726898:C:T p.(Arg38=) NC_000021.9:32726898:C:T p.(Arg38=) NC_000021.9:32726898:C:T Identity +NM_001378259.1:c.333C>T NP_001365188.1:p.Cys111= NC_000003.12:123448212:G:A p.(Cys111=) NC_000003.12:123448212:G:A p.(Cys111=) NC_000003.12:123448212:G:A Identity +NM_000466.3:c.2490C>T NP_000457.1:p.Asn830= NC_000007.14:92501599:G:A p.(Asn830=) NC_000007.14:92501599:G:A p.(Asn830=) NC_000007.14:92501599:G:A Identity +NM_001243254.2:c.2260C>T NP_001230183.1:p.Leu754= NC_000011.10:9165858:G:A p.(Leu754=) NC_000011.10:9165858:G:A p.(Leu754=) NC_000011.10:9165858:G:A Identity +NM_001346418.1:c.786T>C NP_001333347.1:p.Ala262= NC_000006.12:158982532:A:G p.(Ala262=) NC_000006.12:158982532:A:G p.(Ala262=) NC_000006.12:158982532:A:G Identity +NM_001271427.2:c.780A>T NP_001258356.1:p.Pro260= NC_000001.11:19240302:T:A p.(Pro260=) NC_000001.11:19240302:T:A p.(Pro260=) NC_000001.11:19240302:T:A Identity +NM_003647.3:c.1254A>G NP_003638.1:p.Gln418= NC_000017.11:56858634:A:G p.(Gln418=) NC_000017.11:56858634:A:G p.(Gln418=) NC_000017.11:56858634:A:G Identity +NM_001352252.2:c.738G>C NP_001339181.1:p.Thr246= NC_000013.11:110642413:C:G p.(Thr246=) NC_000013.11:110642413:C:G p.(Thr246=) NC_000013.11:110642413:C:G Identity +NM_001037537.2:c.237C>T NP_001032626.1:p.His79= NC_000010.11:13288500:G:A p.(His79=) NC_000010.11:13288500:G:A p.(His79=) NC_000010.11:13288500:G:A Identity +NM_006204.4:c.1236A>G NP_006195.3:p.Lys412= NC_000010.11:93634873:A:G p.(Lys412=) NC_000010.11:93634873:A:G p.(Lys412=) NC_000010.11:93634873:A:G Identity +NM_015512.5:c.11526C>T NP_056327.4:p.Pro3842= NC_000003.12:52396712:C:T p.(Pro3842=) NC_000003.12:52396712:C:T p.(Pro3842=) NC_000003.12:52396712:C:T Identity +NM_001367830.1:c.6243C>T NP_001354759.1:p.Asp2081= NC_000019.10:11199502:G:A p.(Asp2081=) NC_000019.10:11199502:G:A p.(Asp2081=) NC_000019.10:11199502:G:A Identity +NM_001256324.2:c.3069G>C NP_001243253.1:p.Val1023= NC_000017.11:50596733:G:C p.(Val1023=) NC_000017.11:50596733:G:C p.(Val1023=) NC_000017.11:50596733:G:C Identity +NM_001256850.1:c.56187A>G NP_001243779.1:p.Lys18729= NC_000002.12:178590614:T:C p.(Lys18729=) NC_000002.12:178590614:T:C p.(Lys18729=) NC_000002.12:178590614:T:C Identity +NM_000685.5:c.177G>A NP_000676.1:p.Leu59= NC_000003.12:148741211:G:A p.(Leu59=) NC_000003.12:148741211:G:A p.(Leu59=) NC_000003.12:148741211:G:A Identity +NM_020693.4:c.3783T>C NP_065744.3:p.Tyr1261= NC_000011.10:117443964:A:G p.(Tyr1261=) NC_000011.10:117443964:A:G p.(Tyr1261=) NC_000011.10:117443964:A:G Identity +NM_000152.5:c.1752C>T NP_000143.2:p.His584= NC_000017.11:80112097:C:T p.(His584=) NC_000017.11:80112097:C:T p.(His584=) NC_000017.11:80112097:C:T Identity +NM_006231.4:c.981A>G NP_006222.2:p.Glu327= NC_000012.12:132676132:T:C p.(Glu327=) NC_000012.12:132676132:T:C p.(Glu327=) NC_000012.12:132676132:T:C Identity +NM_000489.6:c.2289T>C NP_000480.3:p.Thr763= NC_000023.11:77682966:A:G p.(Thr763=) NC_000023.11:77682966:A:G p.(Thr763=) NC_000023.11:77682966:A:G Identity +NM_001024688.3:c.732G>A NP_001019859.1:p.Gln244= NC_000008.11:89964425:C:T p.(Gln244=) NC_000008.11:89964425:C:T p.(Gln244=) NC_000008.11:89964425:C:T Identity +NM_001308258.2:c.2127T>C NP_001295187.1:p.Ala709= NC_000003.12:149167065:T:C p.(Ala709=) NC_000003.12:149167065:T:C p.(Ala709=) NC_000003.12:149167065:T:C Identity +NM_002076.4:c.825T>C NP_002067.1:p.Thr275= NC_000012.12:64740655:A:G p.(Thr275=) NC_000012.12:64740655:A:G p.(Thr275=) NC_000012.12:64740655:A:G Identity +NM_206933.4:c.14589A>G NP_996816.3:p.Glu4863= NC_000001.11:215647723:T:C p.(Glu4863=) NC_000001.11:215647723:T:C p.(Glu4863=) NC_000001.11:215647723:T:C Identity +NM_001160302.2:c.102G>A NP_001153774.1:p.Glu34= NC_000021.9:32726793:C:T p.(Glu34=) NC_000021.9:32726793:C:T p.(Glu34=) NC_000021.9:32726793:C:T Identity +NM_020461.4:c.4432C>T NP_065194.3:p.Leu1478= NC_000022.11:50219339:G:A p.(Leu1478=) NC_000022.11:50219339:G:A p.(Leu1478=) NC_000022.11:50219339:G:A Identity +NM_020338.4:c.1656A>G NP_065071.1:p.Pro552= NC_000010.11:79298569:A:G p.(Pro552=) NC_000010.11:79298569:A:G p.(Pro552=) NC_000010.11:79298569:A:G Identity +NM_004586.3:c.885G>A NP_004577.1:p.Ala295= NC_000023.11:20177044:C:T p.(Ala295=) NC_000023.11:20177044:C:T p.(Ala295=) NC_000023.11:20177044:C:T Identity +NM_001271723.2:c.345T>G NP_001258652.1:p.Leu115= NC_000005.10:148402063:T:G p.(Leu115=) NC_000005.10:148402063:T:G p.(Leu115=) NC_000005.10:148402063:T:G Identity +NM_020778.5:c.1317C>T NP_065829.4:p.Val439= NC_000015.10:84840595:C:T p.(Val439=) NC_000015.10:84840595:C:T p.(Val439=) NC_000015.10:84840595:C:T Identity +NM_001408504.1:c.354G>A NP_001395433.1:p.Arg118= NC_000017.11:43099823:C:T p.(Arg118=) NC_000017.11:43099823:C:T p.(Arg118=) NC_000017.11:43099823:C:T Identity +NM_000527.5:c.111G>C NP_000518.1:p.Gly37= NC_000019.10:11100265:G:C p.(Gly37=) NC_000019.10:11100265:G:C p.(Gly37=) NC_000019.10:11100265:G:C Identity +NM_001114182.3:c.1149A>G NP_001107654.1:p.Gly383= NC_000012.12:43783684:A:G p.(Gly383=) NC_000012.12:43783684:A:G p.(Gly383=) NC_000012.12:43783684:A:G Identity +NM_001130066.2:c.3306G>A NP_001123538.1:p.Gly1102= NC_000006.12:33443899:G:A p.(Gly1102=) NC_000006.12:33443899:G:A p.(Gly1102=) NC_000006.12:33443899:G:A Identity +NM_000068.4:c.91C>A NP_000059.3:p.Arg31= NC_000019.10:13506133:G:T p.(Arg31=) NC_000019.10:13506133:G:T p.(Arg31=) NC_000019.10:13506133:G:T Identity +NM_001313741.1:c.1398G>A NP_001300670.1:p.Val466= NC_000013.11:25570810:G:A p.(Val466=) NC_000013.11:25570810:G:A p.(Val466=) NC_000013.11:25570810:G:A Identity +NM_033071.5:c.17235G>C NP_149062.2:p.Leu5745= NC_000006.12:152301961:C:G p.(Leu5745=) NC_000006.12:152301961:C:G p.(Leu5745=) NC_000006.12:152301961:C:G Identity +NM_000485.3:c.270G>A NP_000476.1:p.Gly90= NC_000016.10:88810473:C:T p.(Gly90=) NC_000016.10:88810473:C:T p.(Gly90=) NC_000016.10:88810473:C:T Identity +NM_000057.4:c.1356G>A NP_000048.1:p.Glu452= NC_000015.10:90760728:G:A p.(Glu452=) NC_000015.10:90760728:G:A p.(Glu452=) NC_000015.10:90760728:G:A Identity +NM_001024688.3:c.765T>C NP_001019859.1:p.Thr255= NC_000008.11:89958837:A:G p.(Thr255=) NC_000008.11:89958837:A:G p.(Thr255=) NC_000008.11:89958837:A:G Identity +NM_032193.4:c.24C>T NP_115569.2:p.Ala8= NC_000011.10:65720734:G:A p.(Ala8=) NC_000011.10:65720734:G:A p.(Ala8=) NC_000011.10:65720734:G:A Identity +NM_003265.3:c.330G>A NP_003256.1:p.Glu110= NC_000004.12:186076948:G:A p.(Glu110=) NC_000004.12:186076948:G:A p.(Glu110=) NC_000004.12:186076948:G:A Identity +NM_021167.5:c.243C>T NP_066990.3:p.Gly81= NC_000007.14:92447971:C:T p.(Gly81=) NC_000007.14:92447971:C:T p.(Gly81=) NC_000007.14:92447971:C:T Identity +NM_000323.2:c.297G>A NP_000314.1:p.Arg99= NC_000010.11:43100681:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001171933.1:c.2508G>C NP_001165404.1:p.Leu836= NC_000010.11:71811539:G:C p.(Leu836=) NC_000010.11:71811539:G:C p.(Leu836=) NC_000010.11:71811539:G:C Identity +NM_001081.4:c.2139G>A NP_001072.2:p.Thr713= NC_000010.11:17084432:C:T p.(Thr713=) NC_000010.11:17084432:C:T p.(Thr713=) NC_000010.11:17084432:C:T Identity +NM_001254734.2:c.954G>C NP_001241663.1:p.Gly318= NC_000020.11:2400408:G:C p.(Gly318=) NC_000020.11:2400408:G:C p.(Gly318=) NC_000020.11:2400408:G:C Identity +NM_000352.6:c.6C>T NP_000343.2:p.Pro2= NC_000011.10:17476770:G:A p.(Pro2=) NC_000011.10:17476770:G:A p.(Pro2=) NC_000011.10:17476770:G:A Identity +NM_001183.6:c.96GGC[18] NP_001174.2:p.Ala41_Glu42insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla NC_000023.11:154428787:GGCGGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC p.(Ala41_Glu42insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) NC_000023.11:154428787:G:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC ERR:Parse ERR:Parse Identity +NM_001320415.2:c.249T>A NP_001307344.1:p.Pro83= NC_000014.9:65076520:A:T p.(Pro83=) NC_000014.9:65076520:A:T p.(Pro83=) NC_000014.9:65076520:A:T Identity +NM_032119.4:c.18009T>C NP_115495.3:p.Asp6003= NC_000005.10:90985378:T:C p.(Asp6003=) NC_000005.10:90985378:T:C p.(Asp6003=) NC_000005.10:90985378:T:C Identity +NM_000191.3:c.942T>A NP_000182.2:p.Thr314= NC_000001.11:23802498:A:T p.(Thr314=) NC_000001.11:23802498:A:T p.(Thr314=) NC_000001.11:23802498:A:T Identity +NM_001291285.3:c.12705A>G NP_001278214.1:p.Leu4235= NC_000004.12:125481620:A:G p.(Leu4235=) NC_000004.12:125481620:A:G p.(Leu4235=) NC_000004.12:125481620:A:G Identity +NM_001282538.2:c.174C>T NP_001269467.1:p.Val58= NC_000001.11:1793267:G:A p.(Val58=) NC_000001.11:1793267:G:A p.(Val58=) NC_000001.11:1793267:G:A Identity +NM_022051.3:c.1278C>T NP_071334.1:p.Phe426= NC_000001.11:231366413:G:A p.(Phe426=) NC_000001.11:231366413:G:A p.(Phe426=) NC_000001.11:231366413:G:A Identity +NM_001112808.3:c.2757C>T NP_001106279.3:p.Ser919= NC_000001.11:74543927:C:T p.(Ser919=) NC_000001.11:74543927:C:T p.(Ser919=) NC_000001.11:74543927:C:T Identity +NM_000181.4:c.1905T>C NP_000172.2:p.Tyr635= NC_000007.14:65960947:A:G p.(Tyr635=) NC_000007.14:65960947:A:G p.(Tyr635=) NC_000007.14:65960947:A:G Identity +NM_017791.3:c.555C>T NP_060261.2:p.Leu185= NC_000014.9:75579526:C:T p.(Leu185=) NC_000014.9:75579526:C:T p.(Leu185=) NC_000014.9:75579526:C:T Identity +NM_032040.5:c.756G>C NP_114429.2:p.Ala252= NC_000019.10:46412054:C:G p.(Ala252=) NC_000019.10:46412054:C:G p.(Ala252=) NC_000019.10:46412054:C:G Identity +NM_001291860.2:c.4044C>T NP_001278789.1:p.His1348= NC_000001.11:21872365:G:A p.(His1348=) NC_000001.11:21872365:G:A p.(His1348=) NC_000001.11:21872365:G:A Identity +NM_000532.5:c.828C>T NP_000523.2:p.Asn276= NC_000003.12:136298015:C:T p.(Asn276=) NC_000003.12:136298015:C:T p.(Asn276=) NC_000003.12:136298015:C:T Identity +NM_000082.4:c.813C>G NP_000073.1:p.Leu271= NC_000005.10:60898305:G:C p.(Leu271=) NC_000005.10:60898305:G:C p.(Leu271=) NC_000005.10:60898305:G:C Identity +NM_001363746.1:c.192C>T NP_001350675.1:p.Ser64= NC_000009.12:136200607:G:A p.(Ser64=) NC_000009.12:136200607:G:A p.(Ser64=) NC_000009.12:136200607:G:A Identity +NM_001257096.2:c.1053C>T NP_001244025.1:p.Tyr351= NC_000020.11:21708693:C:T p.(Tyr351=) NC_000020.11:21708693:C:T p.(Tyr351=) NC_000020.11:21708693:C:T Identity +NM_001558.4:c.1047A>C NP_001549.2:p.Gly349= NC_000011.10:117998950:A:C p.(Gly349=) NC_000011.10:117998950:A:C p.(Gly349=) NC_000011.10:117998950:A:C Identity +NM_005120.3:c.5349G>A NP_005111.2:p.Lys1783= NC_000023.11:71136603:G:A p.(Lys1783=) NC_000023.11:71136603:G:A p.(Lys1783=) NC_000023.11:71136603:G:A Identity +NM_001277126.2:c.1267C>T NP_001264055.1:p.Leu423= NC_000019.10:53810391:G:A p.(Leu423=) NC_000019.10:53810391:G:A p.(Leu423=) NC_000019.10:53810391:G:A Identity +NM_001145770.3:c.105C>T NP_001139242.1:p.Cys35= NC_000016.10:57651239:C:T p.(Cys35=) NC_000016.10:57651239:C:T p.(Cys35=) NC_000016.10:57651239:C:T Identity +NM_001035506.1:c.1338A>G NP_001030583.1:p.Gly446= NC_000002.12:27056110:A:G ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001003652.4:c.587_595del NP_001003652.1:p.Tyr196_His198del NC_000018.10:47868382:AGTGAGTATAGT:AGT p.(Tyr196_His198del) NC_000018.10:47868382:AGTGAGTATAGT:AGT p.(Tyr196_His198del) NC_000018.10:47868382:AGTGAGTAT: Identity +NM_001164507.2:c.1473C>T NP_001157979.2:p.His491= NC_000002.12:151696732:G:A p.(His491=) NC_000002.12:151696732:G:A p.(His491=) NC_000002.12:151696732:G:A Identity +NM_001042496.2:c.24G>C NP_001035961.1:p.Val8= NC_000015.10:34336629:C:G p.(Val8=) NC_000015.10:34336629:C:G p.(Val8=) NC_000015.10:34336629:C:G Identity +NM_001287249.2:c.135G>A NP_001274178.1:p.Arg45= NC_000002.12:241743667:G:A p.(Arg45=) NC_000002.12:241743667:G:A p.(Arg45=) NC_000002.12:241743667:G:A Identity +NM_001008537.3:c.3858G>A NP_001008537.1:p.Gly1286= NC_000023.11:74740698:C:T p.(Gly1286=) NC_000023.11:74740698:C:T p.(Gly1286=) NC_000023.11:74740698:C:T Identity +NM_001384882.1:c.1785G>C NP_001371811.1:p.Gly595= NC_000002.12:190978937:C:G p.(Gly595=) NC_000002.12:190978937:C:G p.(Gly595=) NC_000002.12:190978937:C:G Identity +NM_001287249.2:c.837C>T NP_001274178.1:p.Asp279= NC_000002.12:241755946:C:T p.(Asp279=) NC_000002.12:241755946:C:T p.(Asp279=) NC_000002.12:241755946:C:T Identity +NM_001301645.2:c.294C>A NP_001288574.1:p.Ile98= NC_000004.12:154744619:C:A p.(Ile98=) NC_000004.12:154744619:C:A p.(Ile98=) NC_000004.12:154744619:C:A Identity +NM_001204403.2:c.138A>G NP_001191332.1:p.Gly46= NC_000010.11:60279597:T:C p.(Gly46=) NC_000010.11:60279597:T:C p.(Gly46=) NC_000010.11:60279597:T:C Identity +NM_213606.4:c.1219T>C NP_998771.3:p.Leu407= NC_000010.11:89436128:A:G p.(Leu407=) NC_000010.11:89436128:A:G p.(Leu407=) NC_000010.11:89436128:A:G Identity +NM_001142763.2:c.1686C>T NP_001136235.1:p.Ile562= NC_000010.11:54153212:G:A p.(Ile562=) NC_000010.11:54153212:G:A p.(Ile562=) NC_000010.11:54153212:G:A Identity +NM_000170.3:c.1776G>A NP_000161.2:p.Gln592= NC_000009.12:6587214:C:T p.(Gln592=) NC_000009.12:6587214:C:T p.(Gln592=) NC_000009.12:6587214:C:T Identity +NM_001410805.1:c.54C>G NP_001397734.1:p.Thr18= NC_000003.12:128895385:C:G p.(Thr18=) NC_000003.12:128895385:C:G p.(Thr18=) NC_000003.12:128895385:C:G Identity +NM_000902.5:c.456A>G NP_000893.2:p.Arg152= NC_000003.12:155116679:A:G p.(Arg152=) NC_000003.12:155116679:A:G p.(Arg152=) NC_000003.12:155116679:A:G Identity +NM_001256850.1:c.14295G>A NP_001243779.1:p.Glu4765= NC_000002.12:178734577:C:T p.(Glu4765=) NC_000002.12:178734577:C:T p.(Glu4765=) NC_000002.12:178734577:C:T Identity +NM_138694.4:c.5961C>T NP_619639.3:p.Ala1987= NC_000006.12:51934269:G:A p.(Ala1987=) NC_000006.12:51934269:G:A p.(Ala1987=) NC_000006.12:51934269:G:A Identity +NM_004273.5:c.552G>A NP_004264.2:p.Ser184= NC_000010.11:72007582:G:A p.(Ser184=) NC_000010.11:72007582:G:A p.(Ser184=) NC_000010.11:72007582:G:A Identity +NM_000286.3:c.583C>T NP_000277.1:p.Leu195= NC_000017.11:35577134:G:A p.(Leu195=) NC_000017.11:35577134:G:A p.(Leu195=) NC_000017.11:35577134:G:A Identity +NM_130466.4:c.2184C>T NP_569733.2:p.Asp728= NC_000012.12:109521254:C:T p.(Asp728=) NC_000012.12:109521254:C:T p.(Asp728=) NC_000012.12:109521254:C:T Identity +NM_080473.5:c.429G>A NP_536721.1:p.Pro143= NC_000020.11:62475092:C:T p.(Pro143=) NC_000020.11:62475092:C:T p.(Pro143=) NC_000020.11:62475092:C:T Identity +NM_001042537.2:c.84T>G NP_001036002.1:p.Leu28= NC_000023.11:135985585:T:G p.(Leu28=) NC_000023.11:135985585:T:G p.(Leu28=) NC_000023.11:135985585:T:G Identity +NM_002471.4:c.5508A>C NP_002462.2:p.Ala1836= NC_000014.9:23384498:T:G p.(Ala1836=) NC_000014.9:23384498:T:G p.(Ala1836=) NC_000014.9:23384498:T:G Identity +NM_001256850.1:c.8532A>C NP_001243779.1:p.Ser2844= NC_000002.12:178770168:T:G p.(Ser2844=) NC_000002.12:178770168:T:G p.(Ser2844=) NC_000002.12:178770168:T:G Identity +NM_000063.6:c.399C>T NP_000054.2:p.Pro133= NC_000006.12:31928873:C:T p.(Pro133=) NC_000006.12:31928873:C:T p.(Pro133=) NC_000006.12:31928873:C:T Identity +NM_014625.4:c.624T>C NP_055440.1:p.Ala208= NC_000001.11:179557140:A:G p.(Ala208=) NC_000001.11:179557140:A:G p.(Ala208=) NC_000001.11:179557140:A:G Identity +NM_001122681.2:c.1392C>T NP_001116153.1:p.Ser464= NC_000004.12:2831963:C:T p.(Ser464=) NC_000004.12:2831963:C:T p.(Ser464=) NC_000004.12:2831963:C:T Identity +NM_001374839.1:c.1206G>A NP_001361768.1:p.Leu402= NC_000008.11:144413375:C:T p.(Leu402=) NC_000008.11:144413375:C:T p.(Leu402=) NC_000008.11:144413375:C:T Identity +NM_001040633.2:c.1473A>G NP_001035723.1:p.Val491= NC_000007.14:151560596:T:C p.(Val491=) NC_000007.14:151560596:T:C p.(Val491=) NC_000007.14:151560596:T:C Identity +NM_001134335.2:c.33C>G NP_001127807.1:p.Arg11= NC_000007.14:6059050:G:C p.(Arg11=) NC_000007.14:6059050:G:C p.(Arg11=) NC_000007.14:6059050:G:C Identity +NM_001349716.2:c.285T>C NP_001336645.1:p.Ala95= NC_000001.11:29216660:A:G p.(Ala95=) NC_000001.11:29216660:A:G p.(Ala95=) NC_000001.11:29216660:A:G Identity +NM_000068.4:c.3015C>T NP_000059.3:p.Arg1005= NC_000019.10:13298629:G:A p.(Arg1005=) NC_000019.10:13298629:G:A p.(Arg1005=) NC_000019.10:13298629:G:A Identity +NM_000036.3:c.1560C>G NP_000027.3:p.Gly520= NC_000001.11:114675648:G:C p.(Gly520=) NC_000001.11:114675648:G:C p.(Gly520=) NC_000001.11:114675648:G:C Identity +NM_001379141.1:c.4221C>A NP_001366070.1:p.Ile1407= NC_000018.10:45063127:C:A p.(Ile1407=) NC_000018.10:45063127:C:A p.(Ile1407=) NC_000018.10:45063127:C:A Identity +NM_001350626.2:c.22C>T NP_001337555.1:p.Leu8= NC_000007.14:2554409:G:A p.(Leu8=) NC_000007.14:2554409:G:A p.(Leu8=) NC_000007.14:2554409:G:A Identity +NM_001278055.2:c.9711T>C NP_001264984.1:p.Phe3237= NC_000013.11:23333723:A:G p.(Phe3237=) NC_000013.11:23333723:A:G p.(Phe3237=) NC_000013.11:23333723:A:G Identity +NM_015378.4:c.2616A>G NP_056193.2:p.Gly872= NC_000001.11:12276203:A:G p.(Gly872=) NC_000001.11:12276203:A:G p.(Gly872=) NC_000001.11:12276203:A:G Identity +NM_001317184.2:c.30G>A NP_001304113.1:p.Ala10= NC_000016.10:68737444:G:A p.(Ala10=) NC_000016.10:68737444:G:A p.(Ala10=) NC_000016.10:68737444:G:A Identity +NM_003737.4:c.9051A>G NP_003728.1:p.Gly3017= NC_000011.10:6622624:T:C p.(Gly3017=) NC_000011.10:6622624:T:C p.(Gly3017=) NC_000011.10:6622624:T:C Identity +NM_001256850.1:c.13170A>G NP_001243779.1:p.Glu4390= NC_000002.12:178738331:T:C p.(Glu4390=) NC_000002.12:178738331:T:C p.(Glu4390=) NC_000002.12:178738331:T:C Identity +NM_001159508.3:c.84G>C NP_001152980.2:p.Arg28= NC_000015.10:40405910:G:C p.(Arg28=) NC_000015.10:40405910:G:C p.(Arg28=) NC_000015.10:40405910:G:C Identity +NM_001349896.1:c.457C>T NP_001336825.1:p.Leu153= NC_000022.11:26472345:G:A p.(Leu153=) NC_000022.11:26472345:G:A p.(Leu153=) NC_000022.11:26472345:G:A Identity +NM_000538.4:c.180C>T NP_000529.1:p.Ala60= NC_000013.11:36819536:C:T p.(Ala60=) NC_000013.11:36819536:C:T p.(Ala60=) NC_000013.11:36819536:C:T Identity +NM_001318245.2:c.3547C>T NP_001305174.1:p.Leu1183= NC_000022.11:25846274:C:T p.(Leu1183=) NC_000022.11:25846274:C:T p.(Leu1183=) NC_000022.11:25846274:C:T Identity +NM_001355186.2:c.328T>C NP_001342115.1:p.Leu110= NC_000003.12:43702408:T:C p.(Leu110=) NC_000003.12:43702408:T:C p.(Leu110=) NC_000003.12:43702408:T:C Identity +NM_014516.4:c.561G>C NP_055331.1:p.Leu187= NC_000019.10:54145674:G:C p.(Leu187=) NC_000019.10:54145674:G:C p.(Leu187=) NC_000019.10:54145674:G:C Identity +NM_001407571.1:c.3094_3102del NP_001394500.1:p.Cys1032_His1034del NC_000017.11:43092215:ATGCTTACAAT:AT p.(Cys1032_His1034del) NC_000017.11:43092215:ATGCTTACAAT:AT p.(Cys1032_His1034del) NC_000017.11:43092215:ATGCTTACA: Identity +NM_001286414.3:c.267C>T NP_001273343.1:p.Phe89= NC_000015.10:43376561:C:T p.(Phe89=) NC_000015.10:43376561:C:T p.(Phe89=) NC_000015.10:43376561:C:T Identity +NM_005876.5:c.5880G>A NP_005867.3:p.Leu1960= NC_000002.12:219483342:G:A p.(Leu1960=) NC_000002.12:219483342:G:A p.(Leu1960=) NC_000002.12:219483342:G:A Identity +NM_001127649.3:c.819C>G NP_001121121.1:p.Ser273= NC_000022.11:18087975:C:G p.(Ser273=) NC_000022.11:18087975:C:G p.(Ser273=) NC_000022.11:18087975:C:G Identity +NM_001378454.1:c.9012A>G NP_001365383.1:p.Lys3004= NC_000002.12:73490970:A:G p.(Lys3004=) NC_000002.12:73490970:A:G p.(Lys3004=) NC_000002.12:73490970:A:G Identity +NM_001195518.2:c.792A>C NP_001182447.1:p.Pro264= NC_000010.11:72475240:T:G p.(Pro264=) NC_000010.11:72475240:T:G p.(Pro264=) NC_000010.11:72475240:T:G Identity +NM_001692.4:c.423G>T NP_001683.2:p.Ala141= NC_000002.12:70959072:G:T p.(Ala141=) NC_000002.12:70959072:G:T p.(Ala141=) NC_000002.12:70959072:G:T Identity +NM_001256876.3:c.528G>T NP_001243805.1:p.Pro176= NC_000009.12:711293:G:T p.(Pro176=) NC_000009.12:711293:G:T p.(Pro176=) NC_000009.12:711293:G:T Identity +NM_002546.4:c.297C>T NP_002537.3:p.Arg99= NC_000008.11:118933033:G:A p.(Arg99=) NC_000008.11:118933033:G:A p.(Arg99=) NC_000008.11:118933033:G:A Identity +NM_000260.4:c.6168C>T NP_000251.3:p.Ile2056= NC_000011.10:77211267:C:T p.(Ile2056=) NC_000011.10:77211267:C:T p.(Ile2056=) NC_000011.10:77211267:C:T Identity +NM_001301063.2:c.2010C>T NP_001287992.1:p.Ser670= NC_000005.10:150545350:C:T p.(Ser670=) NC_000005.10:150545350:C:T p.(Ser670=) NC_000005.10:150545350:C:T Identity +NM_001130955.2:c.2766A>G NP_001124427.2:p.Pro922= NC_000019.10:7468835:A:G p.(Pro922=) NC_000019.10:7468835:A:G p.(Pro922=) NC_000019.10:7468835:A:G Identity +NM_145262.4:c.1008C>T NP_660305.2:p.Ala336= NC_000003.12:52292561:C:T p.(Ala336=) NC_000003.12:52292561:C:T p.(Ala336=) NC_000003.12:52292561:C:T Identity +NM_000028.3:c.3012A>C NP_000019.2:p.Pro1004= NC_000001.11:99891667:A:C p.(Pro1004=) NC_000001.11:99891667:A:C p.(Pro1004=) NC_000001.11:99891667:A:C Identity +NM_001160227.2:c.6963T>G NP_001153699.1:p.Gly2321= NC_000015.10:44563150:A:C p.(Gly2321=) NC_000015.10:44563150:A:C p.(Gly2321=) NC_000015.10:44563150:A:C Identity +NM_000397.4:c.1626G>A NP_000388.2:p.Leu542= NC_000023.11:37810829:G:A p.(Leu542=) NC_000023.11:37810829:G:A p.(Leu542=) NC_000023.11:37810829:G:A Identity +NM_000404.4:c.1389G>T NP_000395.3:p.Leu463= NC_000003.12:33016798:C:A p.(Leu463=) NC_000003.12:33016798:C:A p.(Leu463=) NC_000003.12:33016798:C:A Identity +NM_001411068.1:c.936G>C NP_001397997.1:p.Leu312= NC_000015.10:68208235:C:G p.(Leu312=) NC_000015.10:68208235:C:G p.(Leu312=) NC_000015.10:68208235:C:G Identity +NM_001318520.2:c.3087A>G NP_001305449.1:p.Lys1029= NC_000018.10:70028723:T:C p.(Lys1029=) NC_000018.10:70028723:T:C p.(Lys1029=) NC_000018.10:70028723:T:C Identity +NM_001385640.1:c.1078C>A NP_001372569.1:p.Arg360= NC_000001.11:939291:C:A p.(Arg360=) NC_000001.11:939291:C:A p.(Arg360=) NC_000001.11:939291:C:A Identity +NM_000092.5:c.1191G>A NP_000083.3:p.Gly397= NC_000002.12:227098706:C:T p.(Gly397=) NC_000002.12:227098706:C:T p.(Gly397=) NC_000002.12:227098706:C:T Identity +NM_017890.5:c.4716G>A NP_060360.3:p.Gln1572= NC_000008.11:99520905:G:A p.(Gln1572=) NC_000008.11:99520905:G:A p.(Gln1572=) NC_000008.11:99520905:G:A Identity +NM_017890.5:c.3192G>A NP_060360.3:p.Val1064= NC_000008.11:99431645:G:A p.(Val1064=) NC_000008.11:99431645:G:A p.(Val1064=) NC_000008.11:99431645:G:A Identity +NM_004646.4:c.843T>C NP_004637.1:p.Asn281= NC_000019.10:35849144:A:G p.(Asn281=) NC_000019.10:35849144:A:G p.(Asn281=) NC_000019.10:35849144:A:G Identity +NM_001278666.2:c.21A>G NP_001265595.1:p.Glu7= NC_000006.12:57210359:T:C p.(Glu7=) NC_000006.12:57210359:T:C p.(Glu7=) NC_000006.12:57210359:T:C Identity +NM_025074.7:c.6603C>A NP_079350.5:p.Val2201= NC_000004.12:78452193:C:A p.(Val2201=) NC_000004.12:78452193:C:A p.(Val2201=) NC_000004.12:78452193:C:A Identity +NM_001166159.2:c.646C>A NP_001159631.1:p.Arg216= NC_000001.11:161209874:C:A p.(Arg216=) NC_000001.11:161209874:C:A p.(Arg216=) NC_000001.11:161209874:C:A Identity +NM_020223.4:c.1185G>A NP_064608.2:p.Leu395= NC_000007.14:255960:G:A p.(Leu395=) NC_000007.14:255960:G:A p.(Leu395=) NC_000007.14:255960:G:A Identity +NM_003742.4:c.2661T>G NP_003733.2:p.Thr887= NC_000002.12:168936382:A:C p.(Thr887=) NC_000002.12:168936382:A:C p.(Thr887=) NC_000002.12:168936382:A:C Identity +NM_025179.4:c.2553C>T NP_079455.3:p.His851= NC_000001.11:208079292:G:A p.(His851=) NC_000001.11:208079292:G:A p.(His851=) NC_000001.11:208079292:G:A Identity +NM_001100913.3:c.1569C>T NP_001094383.2:p.Cys523= NC_000014.9:105382856:C:T p.(Cys523=) NC_000014.9:105382856:C:T p.(Cys523=) NC_000014.9:105382856:C:T Identity +NM_000543.5:c.153C>T NP_000534.3:p.Asp51= NC_000011.10:6390750:C:T p.(Asp51=) NC_000011.10:6390750:C:T p.(Asp51=) NC_000011.10:6390750:C:T Identity +NM_001411087.1:c.393G>A NP_001398016.1:p.Lys131= NC_000019.10:45012173:G:A p.(Lys131=) NC_000019.10:45012173:G:A p.(Lys131=) NC_000019.10:45012173:G:A Identity +NM_001317012.2:c.900_905del NP_001303941.1:p.Glu305_Glu306del NC_000020.11:23365277:GAGGAAGAGGA:GAGGA p.(Glu305_Glu306del) NC_000020.11:23365277:GAGGAAGAGGA:GAGGA p.(Glu305_Glu306del) NC_000020.11:23365282:AGAGGA: Identity +LRG_274t1:c.972C>T LRG_274p1:p.Gly324= NC_000019.10:11110682:C:T ERR:Data provider error: ValueError: Transcript LRG_274t1 not found ERR:Data provider error: ValueError: Transcript LRG_274t1 not found ERR:AlignmentMapper(tx_ac=LRG_274t1, alt_ac=LRG_274t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_274t1, alt_ac=LRG_274t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_274t1 not found +NM_001199975.3:c.75T>C NP_001186904.1:p.Asn25= NC_000008.11:96231860:A:G p.(Asn25=) NC_000008.11:96231860:A:G p.(Asn25=) NC_000008.11:96231860:A:G Identity +NM_001164665.2:c.3957C>A NP_001158137.1:p.Leu1319= NC_000007.14:138894416:G:T p.(Leu1319=) NC_000007.14:138894416:G:T p.(Leu1319=) NC_000007.14:138894416:G:T Identity +NM_001111.5:c.114T>C NP_001102.3:p.Ser38= NC_000001.11:154602527:A:G p.(Ser38=) NC_000001.11:154602527:A:G p.(Ser38=) NC_000001.11:154602527:A:G Identity +NM_007123.6:c.102A>C NP_009054.6:p.Arg34= NC_000001.11:216422234:T:G p.(Arg34=) NC_000001.11:216422234:T:G p.(Arg34=) NC_000001.11:216422234:T:G Identity +NM_001193640.2:c.1662C>G NP_001180569.1:p.Val554= NC_000001.11:197421825:C:G p.(Val554=) NC_000001.11:197421825:C:G p.(Val554=) NC_000001.11:197421825:C:G Identity +NM_001042494.2:c.2493G>T NP_001035959.1:p.Leu831= NC_000015.10:34238363:C:A p.(Leu831=) NC_000015.10:34238363:C:A p.(Leu831=) NC_000015.10:34238363:C:A Identity +NM_001042399.2:c.507T>C NP_001035858.1:p.Tyr169= NC_000012.12:94400891:A:G p.(Tyr169=) NC_000012.12:94400891:A:G p.(Tyr169=) NC_000012.12:94400891:A:G Identity +NM_001370528.1:c.1362A>C NP_001357457.1:p.Ser454= NC_000003.12:64147127:T:G p.(Ser454=) NC_000003.12:64147127:T:G p.(Ser454=) NC_000003.12:64147127:T:G Identity +NM_001271999.2:c.5226C>G NP_001258928.1:p.Val1742= NC_000001.11:62492811:G:C p.(Val1742=) NC_000001.11:62492811:G:C p.(Val1742=) NC_000001.11:62492811:G:C Identity +NM_001354768.3:c.483G>A NP_001341697.1:p.Lys161= NC_000014.9:24081466:C:T p.(Lys161=) NC_000014.9:24081466:C:T p.(Lys161=) NC_000014.9:24081466:C:T Identity +NM_001164507.2:c.5679C>T NP_001157979.2:p.Tyr1893= NC_000002.12:151663631:G:A p.(Tyr1893=) NC_000002.12:151663631:G:A p.(Tyr1893=) NC_000002.12:151663631:G:A Identity +NM_001003722.2:c.627C>T NP_001003722.1:p.His209= NC_000009.12:128523324:C:T p.(His209=) NC_000009.12:128523324:C:T p.(His209=) NC_000009.12:128523324:C:T Identity +NM_001354243.2:c.1560C>T NP_001341172.1:p.Gly520= NC_000004.12:113274588:C:T p.(Gly520=) NC_000004.12:113274588:C:T p.(Gly520=) NC_000004.12:113274588:C:T Identity +NM_001145472.3:c.2256G>A NP_001138944.1:p.Lys752= NC_000018.10:46507640:C:T p.(Lys752=) NC_000018.10:46507640:C:T p.(Lys752=) NC_000018.10:46507640:C:T Identity +NM_001042424.3:c.2355T>C NP_001035889.1:p.Cys785= NC_000004.12:1955176:T:C p.(Cys785=) NC_000004.12:1955176:T:C p.(Cys785=) NC_000004.12:1955176:T:C Identity +NM_000211.5:c.1239G>A NP_000202.3:p.Val413= NC_000021.9:44891981:C:T p.(Val413=) NC_000021.9:44891981:C:T p.(Val413=) NC_000021.9:44891981:C:T Identity +NM_001375654.1:c.432C>G NP_001362583.1:p.Val144= NC_000008.11:54621397:C:G p.(Val144=) NC_000008.11:54621397:C:G p.(Val144=) NC_000008.11:54621397:C:G Identity +NM_000379.4:c.3144C>G NP_000370.2:p.Val1048= NC_000002.12:31348270:G:C p.(Val1048=) NC_000002.12:31348270:G:C p.(Val1048=) NC_000002.12:31348270:G:C Identity +NM_014141.6:c.132C>G NP_054860.1:p.Pro44= NC_000007.14:146774304:C:G p.(Pro44=) NC_000007.14:146774304:C:G p.(Pro44=) NC_000007.14:146774304:C:G Identity +NM_000088.4:c.3654_3662del NP_000079.2:p.Asp1219_Ala1221del NC_000017.11:50186791:GCATCATCAGC:GC p.(Asp1219_Ala1221del) NC_000017.11:50186791:GCATCATCAGC:GC p.(Asp1219_Ala1221del) NC_000017.11:50186791:GCATCATCA: Identity +NM_001128227.3:c.336G>A NP_001121699.1:p.Glu112= NC_000009.12:36246403:C:T p.(Glu112=) NC_000009.12:36246403:C:T p.(Glu112=) NC_000009.12:36246403:C:T Identity +NM_005515.4:c.129T>C NP_005506.3:p.Gly43= NC_000007.14:157010221:A:G p.(Gly43=) NC_000007.14:157010221:A:G p.(Gly43=) NC_000007.14:157010221:A:G Identity +NM_005751.5:c.2844C>G NP_005742.4:p.Thr948= NC_000007.14:92002760:C:G p.(Thr948=) NC_000007.14:92002760:C:G p.(Thr948=) NC_000007.14:92002760:C:G Identity +NM_001048171.2:c.1305_1315dup NP_001041636.2:p.Thr439delinsArgProGlnTer NC_000001.11:45331258:TCACTGGGGTCT:TCACTGGGGTCTCACTGGGGTCT p.(Thr439ArgfsTer4) NC_000001.11:45331258:TCACTGGGGTCT:TCACTGGGGTCTCACTGGGGTCT p.(Thr439ArgfsTer4) ERR:SPDI Analogous +NM_001363813.1:c.1173G>A NP_001350742.1:p.Leu391= NC_000017.11:65538229:C:T p.(Leu391=) NC_000017.11:65538229:C:T p.(Leu391=) NC_000017.11:65538229:C:T Identity +NM_001291997.2:c.453A>G NP_001278926.1:p.Arg151= NC_000016.10:78432487:A:G p.(Arg151=) NC_000016.10:78432487:A:G p.(Arg151=) NC_000016.10:78432487:A:G Identity +NM_001372.4:c.6510C>T NP_001363.2:p.Ile2170= NC_000017.11:11747665:C:T p.(Ile2170=) NC_000017.11:11747665:C:T p.(Ile2170=) NC_000017.11:11747665:C:T Identity +NM_000720.4:c.168A>T NP_000711.1:p.Ala56= NC_000003.12:53497251:A:T p.(Ala56=) NC_000003.12:53497251:A:T p.(Ala56=) NC_000003.12:53497251:A:T Identity +NM_001160302.2:c.186C>T NP_001153774.1:p.Leu62= NC_000021.9:32701985:G:A p.(Leu62=) NC_000021.9:32701985:G:A p.(Leu62=) NC_000021.9:32701985:G:A Identity +NM_006393.3:c.1491A>G NP_006384.1:p.Lys497= NC_000010.11:20831541:T:C p.(Lys497=) NC_000010.11:20831541:T:C p.(Lys497=) NC_000010.11:20831541:T:C Identity +NM_001282782.2:c.753A>G NP_001269711.1:p.Thr251= NC_000022.11:46356065:A:G p.(Thr251=) NC_000022.11:46356065:A:G p.(Thr251=) NC_000022.11:46356065:A:G Identity +NM_000274.4:c.1254G>A NP_000265.1:p.Leu418= NC_000010.11:124398007:C:T p.(Leu418=) NC_000010.11:124398007:C:T p.(Leu418=) NC_000010.11:124398007:C:T Identity +NM_001256105.1:c.498C>T NP_001243034.1:p.Gly166= NC_000003.12:55474477:G:A p.(Gly166=) NC_000003.12:55474477:G:A p.(Gly166=) NC_000003.12:55474477:G:A Identity +NM_001195573.1:c.3978C>T NP_001182502.1:p.Ala1326= NC_000014.9:95103417:G:A p.(Ala1326=) NC_000014.9:95103417:G:A p.(Ala1326=) NC_000014.9:95103417:G:A Identity +NM_001127218.3:c.78G>A NP_001120690.1:p.Arg26= NC_000007.14:44121975:C:T p.(Arg26=) NC_000007.14:44121975:C:T p.(Arg26=) NC_000007.14:44121975:C:T Identity +NM_001190799.2:c.1731T>C NP_001177728.1:p.Ala577= NC_000004.12:127890232:T:C p.(Ala577=) NC_000004.12:127890232:T:C p.(Ala577=) NC_000004.12:127890232:T:C Identity +NM_000454.5:c.387A>G NP_000445.1:p.Lys129= NC_000021.9:31668499:A:G p.(Lys129=) NC_000021.9:31668499:A:G p.(Lys129=) NC_000021.9:31668499:A:G Identity +NM_001142763.2:c.2466T>C NP_001136235.1:p.Pro822= NC_000010.11:54022966:A:G p.(Pro822=) NC_000010.11:54022966:A:G p.(Pro822=) NC_000010.11:54022966:A:G Identity +NM_001190799.2:c.1641A>G NP_001177728.1:p.Pro547= NC_000004.12:127890142:A:G p.(Pro547=) NC_000004.12:127890142:A:G p.(Pro547=) NC_000004.12:127890142:A:G Identity +NM_002709.3:c.156G>A NP_002700.1:p.Leu52= NC_000002.12:28776953:G:A p.(Leu52=) NC_000002.12:28776953:G:A p.(Leu52=) NC_000002.12:28776953:G:A Identity +NM_001271696.3:c.12C>T NP_001258625.1:p.Leu4= NC_000023.11:75156260:G:A p.(Leu4=) NC_000023.11:75156260:G:A p.(Leu4=) NC_000023.11:75156260:G:A Identity +NM_000051.4:c.2396_2407del NP_000042.3:p.Ala799_Phe803delinsVal NC_000011.10:108259004:CATCTGGCTTTT: p.(Ala799_Phe803delinsVal) NC_000011.10:108259004:CATCTGGCTTTT: p.(Ala799_Phe803delinsVal) NC_000011.10:108259004:CATCTGGCTTTT: Identity +NM_138694.4:c.5613A>G NP_619639.3:p.Glu1871= NC_000006.12:52010446:T:C p.(Glu1871=) NC_000006.12:52010446:T:C p.(Glu1871=) NC_000006.12:52010446:T:C Identity +NM_014049.5:c.45T>C NP_054768.2:p.Arg15= NC_000003.12:128879735:T:C p.(Arg15=) NC_000003.12:128879735:T:C p.(Arg15=) NC_000003.12:128879735:T:C Identity +NM_002470.4:c.3988C>T NP_002461.2:p.Leu1330= NC_000017.11:10635550:G:A p.(Leu1330=) NC_000017.11:10635550:G:A p.(Leu1330=) NC_000017.11:10635550:G:A Identity +NM_001144964.1:c.2103G>A NP_001138436.1:p.Lys701= NC_000018.10:58385564:G:A p.(Lys701=) NC_000018.10:58385564:G:A p.(Lys701=) NC_000018.10:58385564:G:A Identity +NM_015909.4:c.981T>A NP_056993.2:p.Ser327= NC_000002.12:15488995:A:T p.(Ser327=) NC_000002.12:15488995:A:T p.(Ser327=) NC_000002.12:15488995:A:T Identity +NM_014510.3:c.6549T>C NP_055325.2:p.Ser2183= NC_000007.14:82954403:A:G p.(Ser2183=) NC_000007.14:82954403:A:G p.(Ser2183=) NC_000007.14:82954403:A:G Identity +NM_001171971.3:c.2010C>T NP_001165442.1:p.Ala670= NC_000010.11:84213317:C:T p.(Ala670=) NC_000010.11:84213317:C:T p.(Ala670=) NC_000010.11:84213317:C:T Identity +NM_015425.6:c.1797C>T NP_056240.2:p.Pro599= NC_000002.12:86070086:G:A p.(Pro599=) NC_000002.12:86070086:G:A p.(Pro599=) NC_000002.12:86070086:G:A Identity +NM_001164665.2:c.3477G>A NP_001158137.1:p.Gln1159= NC_000007.14:138905064:C:T p.(Gln1159=) NC_000007.14:138905064:C:T p.(Gln1159=) NC_000007.14:138905064:C:T Identity +NM_006612.6:c.564C>T NP_006603.2:p.Ser188= NC_000017.11:5002597:C:T p.(Ser188=) NC_000017.11:5002597:C:T p.(Ser188=) NC_000017.11:5002597:C:T Identity +NM_020778.5:c.540C>A NP_065829.4:p.Arg180= NC_000015.10:84839818:C:A p.(Arg180=) NC_000015.10:84839818:C:A p.(Arg180=) NC_000015.10:84839818:C:A Identity +NM_007123.6:c.1914del NP_009054.6:p.Val637_Cys638insTer NC_000001.11:216289336:G: p.(Cys638Ter) NC_000001.11:216289336:G: p.(Cys638Ter) NC_000001.11:216289336:G: Analogous +NM_000481.4:c.150G>A NP_000472.2:p.Val50= NC_000003.12:49422211:C:T p.(Val50=) NC_000003.12:49422211:C:T p.(Val50=) NC_000003.12:49422211:C:T Identity +NM_001014763.1:c.396C>T NP_001014763.1:p.Phe132= NC_000019.10:51354242:G:A p.(Phe132=) NC_000019.10:51354242:G:A p.(Phe132=) NC_000019.10:51354242:G:A Identity +NM_001321727.1:c.111C>T NP_001308656.1:p.Ala37= NC_000002.12:74530116:C:T p.(Ala37=) NC_000002.12:74530116:C:T p.(Ala37=) NC_000002.12:74530116:C:T Identity +NM_005458.8:c.525C>T NP_005449.5:p.Thr175= NC_000009.12:98541977:G:A p.(Thr175=) NC_000009.12:98541977:G:A p.(Thr175=) NC_000009.12:98541977:G:A Identity +NM_006393.3:c.2643T>C NP_006384.1:p.Ser881= NC_000010.11:20808627:A:G p.(Ser881=) NC_000010.11:20808627:A:G p.(Ser881=) NC_000010.11:20808627:A:G Identity +NM_138694.4:c.12141C>T NP_619639.3:p.Ser4047= NC_000006.12:51619164:G:A p.(Ser4047=) NC_000006.12:51619164:G:A p.(Ser4047=) NC_000006.12:51619164:G:A Identity +NM_000878.5:c.1092C>T NP_000869.1:p.Tyr364= NC_000022.11:37128659:G:A p.(Tyr364=) NC_000022.11:37128659:G:A p.(Tyr364=) NC_000022.11:37128659:G:A Identity +NM_001378477.3:c.957C>T NP_001365406.2:p.Pro319= NC_000023.11:41474424:C:T p.(Pro319=) NC_000023.11:41474424:C:T p.(Pro319=) NC_000023.11:41474424:C:T Identity +NM_001033855.3:c.168G>A NP_001029027.1:p.Lys56= NC_000010.11:14945182:C:T p.(Lys56=) NC_000010.11:14945182:C:T p.(Lys56=) NC_000010.11:14945182:C:T Identity +NM_001005373.4:c.831G>T NP_001005373.1:p.Gly277= NC_000009.12:127479432:G:T p.(Gly277=) NC_000009.12:127479432:G:T p.(Gly277=) NC_000009.12:127479432:G:T Identity +NM_001374425.1:c.882G>A NP_001361354.1:p.Leu294= NC_000001.11:2406570:C:T p.(Leu294=) NC_000001.11:2406570:C:T p.(Leu294=) NC_000001.11:2406570:C:T Identity +NM_000191.3:c.801C>T NP_000182.2:p.Pro267= NC_000001.11:23804474:G:A p.(Pro267=) NC_000001.11:23804474:G:A p.(Pro267=) NC_000001.11:23804474:G:A Identity +NM_001406482.1:c.993T>C NP_001393411.1:p.Ile331= NC_000015.10:34790552:A:G p.(Ile331=) NC_000015.10:34790552:A:G p.(Ile331=) NC_000015.10:34790552:A:G Identity +NM_000541.5:c.135G>A NP_000532.2:p.Val45= NC_000002.12:233316133:G:A p.(Val45=) NC_000002.12:233316133:G:A p.(Val45=) NC_000002.12:233316133:G:A Identity +NM_001098512.3:c.555A>G NP_001091982.1:p.Val185= NC_000010.11:51804591:A:G p.(Val185=) NC_000010.11:51804591:A:G p.(Val185=) NC_000010.11:51804591:A:G Identity +NM_024105.4:c.1386G>A NP_077010.1:p.Leu462= NC_000022.11:49903918:C:T p.(Leu462=) NC_000022.11:49903918:C:T p.(Leu462=) NC_000022.11:49903918:C:T Identity +NM_001283106.3:c.759T>C NP_001270035.1:p.Thr253= NC_000022.11:20064589:T:C p.(Thr253=) NC_000022.11:20064589:T:C p.(Thr253=) NC_000022.11:20064589:T:C Identity +NM_000361.3:c.336G>C NP_000352.1:p.Thr112= NC_000020.11:23049168:C:G p.(Thr112=) NC_000020.11:23049168:C:G p.(Thr112=) NC_000020.11:23049168:C:G Identity +NM_002473.6:c.4839G>A NP_002464.1:p.Lys1613= NC_000022.11:36288344:C:T p.(Lys1613=) NC_000022.11:36288344:C:T p.(Lys1613=) NC_000022.11:36288344:C:T Identity +NM_000026.4:c.780A>C NP_000017.1:p.Ala260= NC_000022.11:40360479:A:C p.(Ala260=) NC_000022.11:40360479:A:C p.(Ala260=) NC_000022.11:40360479:A:C Identity +NM_003091.4:c.468T>C NP_003082.1:p.Ala156= NC_000020.11:2463179:A:G p.(Ala156=) NC_000020.11:2463179:A:G p.(Ala156=) NC_000020.11:2463179:A:G Identity +NM_000297.4:c.114C>A NP_000288.1:p.Ala38= NC_000004.12:88007846:C:A p.(Ala38=) NC_000004.12:88007846:C:A p.(Ala38=) NC_000004.12:88007846:C:A Identity +NM_001039675.2:c.696C>A NP_001034764.1:p.Gly232= NC_000015.10:90942489:C:A p.(Gly232=) NC_000015.10:90942489:C:A p.(Gly232=) NC_000015.10:90942489:C:A Identity +NM_000124.4:c.3792T>C NP_000115.1:p.Ser1264= NC_000010.11:49461542:A:G p.(Ser1264=) NC_000010.11:49461542:A:G p.(Ser1264=) NC_000010.11:49461542:A:G Identity +NM_001136037.4:c.561C>T NP_001129509.2:p.Asn187= NC_000002.12:127642936:G:A p.(Asn187=) NC_000002.12:127642936:G:A p.(Asn187=) NC_000002.12:127642936:G:A Identity +NM_001172631.3:c.897C>G NP_001166102.1:p.Gly299= NC_000014.9:102425236:C:G p.(Gly299=) NC_000014.9:102425236:C:G p.(Gly299=) NC_000014.9:102425236:C:G Identity +NM_001256849.1:c.3141G>A NP_001243778.1:p.Leu1047= NC_000019.10:50417191:G:A p.(Leu1047=) NC_000019.10:50417191:G:A p.(Leu1047=) NC_000019.10:50417191:G:A Identity +NM_001282902.3:c.2607C>T NP_001269831.1:p.Ala869= NC_000008.11:115587066:G:A p.(Ala869=) NC_000008.11:115587066:G:A p.(Ala869=) NC_000008.11:115587066:G:A Identity +NM_001035.3:c.13173C>T NP_001026.2:p.Tyr4391= NC_000001.11:237784884:C:T p.(Tyr4391=) NC_000001.11:237784884:C:T p.(Tyr4391=) NC_000001.11:237784884:C:T Identity +NM_000702.4:c.762C>T NP_000693.1:p.Gly254= NC_000001.11:160127564:C:T p.(Gly254=) NC_000001.11:160127564:C:T p.(Gly254=) NC_000001.11:160127564:C:T Identity +NM_001008389.3:c.741C>G NP_001008390.1:p.Ala247= NC_000016.10:20348559:G:C p.(Ala247=) NC_000016.10:20348559:G:C p.(Ala247=) NC_000016.10:20348559:G:C Identity +NM_000346.4:c.336C>T NP_000337.1:p.Phe112= NC_000017.11:72121726:C:T p.(Phe112=) NC_000017.11:72121726:C:T p.(Phe112=) NC_000017.11:72121726:C:T Identity +NM_001130455.2:c.1986G>A NP_001123927.1:p.Leu662= NC_000002.12:71553858:G:A p.(Leu662=) NC_000002.12:71553858:G:A p.(Leu662=) NC_000002.12:71553858:G:A Identity +NM_003482.4:c.2919G>A NP_003473.3:p.Leu973= NC_000012.12:49050668:C:T p.(Leu973=) NC_000012.12:49050668:C:T p.(Leu973=) NC_000012.12:49050668:C:T Identity +NM_001372.4:c.3990A>G NP_001363.2:p.Glu1330= NC_000017.11:11689811:A:G p.(Glu1330=) NC_000017.11:11689811:A:G p.(Glu1330=) NC_000017.11:11689811:A:G Identity +NM_001199216.2:c.1107T>C NP_001186145.1:p.Ala369= NC_000019.10:35302658:T:C p.(Ala369=) NC_000019.10:35302658:T:C p.(Ala369=) NC_000019.10:35302658:T:C Identity +NM_001142294.2:c.1413A>G NP_001135766.1:p.Pro471= NC_000013.11:36314296:T:C p.(Pro471=) NC_000013.11:36314296:T:C p.(Pro471=) NC_000013.11:36314296:T:C Identity +NM_001190906.2:c.636G>A NP_001177835.1:p.Lys212= NC_000007.14:138107483:G:A p.(Lys212=) NC_000007.14:138107483:G:A p.(Lys212=) NC_000007.14:138107483:G:A Identity +NM_014510.3:c.7574_7579del NP_055325.2:p.Lys2525_Pro2526del NC_000007.14:82953373:TTGGTTTT:TT p.(Lys2525_Pro2526del) NC_000007.14:82953373:TTGGTTTT:TT p.(Lys2525_Pro2526del) NC_000007.14:82953373:TTGGTT: Identity +NM_001190799.2:c.1278T>C NP_001177728.1:p.Cys426= NC_000004.12:127887410:T:C p.(Cys426=) NC_000004.12:127887410:T:C p.(Cys426=) NC_000004.12:127887410:T:C Identity +NM_004525.3:c.4581C>T NP_004516.2:p.Asp1527= NC_000002.12:169237212:G:A p.(Asp1527=) NC_000002.12:169237212:G:A p.(Asp1527=) NC_000002.12:169237212:G:A Identity +NM_001257096.2:c.882C>T NP_001244025.1:p.Asn294= NC_000020.11:21707032:C:T p.(Asn294=) NC_000020.11:21707032:C:T p.(Asn294=) NC_000020.11:21707032:C:T Identity +NM_001853.4:c.1086C>T NP_001844.3:p.Pro362= NC_000020.11:62829659:C:T p.(Pro362=) NC_000020.11:62829659:C:T p.(Pro362=) NC_000020.11:62829659:C:T Identity +NM_000604.2:c.2061G>C NP_000595.1:p.Gly687= NC_000008.11:38414276:C:G ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_002900.3:c.1089C>A NP_002891.1:p.Val363= NC_000010.11:47349572:C:A p.(Val363=) NC_000010.11:47349572:C:A p.(Val363=) NC_000010.11:47349572:C:A Identity +NM_001193640.2:c.3447T>C NP_001180569.1:p.Asn1149= NC_000001.11:197438579:T:C p.(Asn1149=) NC_000001.11:197438579:T:C p.(Asn1149=) NC_000001.11:197438579:T:C Identity +NM_000426.4:c.1380C>T NP_000417.3:p.Tyr460= NC_000006.12:129177778:C:T p.(Tyr460=) NC_000006.12:129177778:C:T p.(Tyr460=) NC_000006.12:129177778:C:T Identity +NM_001127487.2:c.4575A>G NP_001120959.1:p.Pro1525= NC_000007.14:128848062:A:G p.(Pro1525=) NC_000007.14:128848062:A:G p.(Pro1525=) NC_000007.14:128848062:A:G Identity +NM_001134673.4:c.654C>T NP_001128145.1:p.Val218= NC_000001.11:61332539:C:T p.(Val218=) NC_000001.11:61332539:C:T p.(Val218=) NC_000001.11:61332539:C:T Identity +NM_000448.3:c.2685A>G NP_000439.2:p.Val895= NC_000011.10:36575988:A:G p.(Val895=) NC_000011.10:36575988:A:G p.(Val895=) NC_000011.10:36575988:A:G Identity +NM_001164507.2:c.7518C>T NP_001157979.2:p.Asn2506= NC_000002.12:151646147:G:A p.(Asn2506=) NC_000002.12:151646147:G:A p.(Asn2506=) NC_000002.12:151646147:G:A Identity +NM_001243027.3:c.1041C>T NP_001229956.1:p.Phe347= NC_000019.10:40235298:G:A p.(Phe347=) NC_000019.10:40235298:G:A p.(Phe347=) NC_000019.10:40235298:G:A Identity +NM_014516.4:c.174G>A NP_055331.1:p.Leu58= NC_000019.10:54143664:G:A p.(Leu58=) NC_000019.10:54143664:G:A p.(Leu58=) NC_000019.10:54143664:G:A Identity +NM_000126.4:c.495G>A NP_000117.1:p.Val165= NC_000015.10:76286437:C:T p.(Val165=) NC_000015.10:76286437:C:T p.(Val165=) NC_000015.10:76286437:C:T Identity +NM_000528.4:c.1167C>G NP_000519.2:p.Thr389= NC_000019.10:12658286:G:C p.(Thr389=) NC_000019.10:12658286:G:C p.(Thr389=) NC_000019.10:12658286:G:C Identity +NM_001406506.1:c.1065A>G NP_001393435.1:p.Pro355= NC_000018.10:31080121:T:C p.(Pro355=) NC_000018.10:31080121:T:C p.(Pro355=) NC_000018.10:31080121:T:C Identity +NM_004211.5:c.474C>G NP_004202.4:p.Thr158= NC_000011.10:20601598:C:G p.(Thr158=) NC_000011.10:20601598:C:G p.(Thr158=) NC_000011.10:20601598:C:G Identity +NM_001370534.1:c.993C>T NP_001357463.1:p.Asn331= NC_000016.10:74644447:G:A p.(Asn331=) NC_000016.10:74644447:G:A p.(Asn331=) NC_000016.10:74644447:G:A Identity +NM_001271933.2:c.4347A>G NP_001258862.1:p.Arg1449= NC_000011.10:117412146:A:G p.(Arg1449=) NC_000011.10:117412146:A:G p.(Arg1449=) NC_000011.10:117412146:A:G Identity +NM_000462.5:c.411T>A NP_000453.2:p.Leu137= NC_000015.10:25371771:A:T p.(Leu137=) NC_000015.10:25371771:A:T p.(Leu137=) NC_000015.10:25371771:A:T Identity +NM_000498.3:c.198G>A NP_000489.3:p.Leu66= NC_000008.11:142917642:C:T p.(Leu66=) NC_000008.11:142917642:C:T p.(Leu66=) NC_000008.11:142917642:C:T Identity +NM_000445.5:c.6464_6469dup NP_000436.2:p.Ala2156_Gln2157insArgAla NC_000008.11:143923540:GAGCCCG:GAGCCCGAGCCCG p.(Arg2155_Ala2156dup) NC_000008.11:143923540:GAGCCCG:GAGCCCGAGCCCG p.(Arg2155_Ala2156dup) ERR:SPDI Analogous +NM_001198842.2:c.1395G>A NP_001185771.1:p.Glu465= NC_000012.12:69599962:G:A p.(Glu465=) NC_000012.12:69599962:G:A p.(Glu465=) NC_000012.12:69599962:G:A Identity +NM_001267727.2:c.627T>C NP_001254656.1:p.Ile209= NC_000017.11:68356726:T:C p.(Ile209=) NC_000017.11:68356726:T:C p.(Ile209=) NC_000017.11:68356726:T:C Identity +NM_000484.4:c.105C>A NP_000475.1:p.Ala35= NC_000021.9:26112098:G:T p.(Ala35=) NC_000021.9:26112098:G:T p.(Ala35=) NC_000021.9:26112098:G:T Identity +NM_001042663.3:c.567A>G NP_001036128.2:p.Gly189= NC_000001.11:6474147:T:C p.(Gly189=) NC_000001.11:6474147:T:C p.(Gly189=) NC_000001.11:6474147:T:C Identity +NM_001127656.1:c.240C>G NP_001121128.1:p.Leu80= NC_000011.10:19188176:G:C ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found +NM_001002009.3:c.165T>C NP_001002009.1:p.Ser55= NC_000007.14:33024078:A:G p.(Ser55=) NC_000007.14:33024078:A:G p.(Ser55=) NC_000007.14:33024078:A:G Identity +NM_001290020.2:c.480T>C NP_001276949.1:p.Asp160= NC_000010.11:27985113:A:G p.(Asp160=) NC_000010.11:27985113:A:G p.(Asp160=) NC_000010.11:27985113:A:G Identity +NM_000249.4:c.1605T>C NP_000240.1:p.Asn535= NC_000003.12:37040231:T:C p.(Asn535=) NC_000003.12:37040231:T:C p.(Asn535=) NC_000003.12:37040231:T:C Identity +NM_001201484.2:c.240T>C NP_001188413.1:p.Phe80= NC_000009.12:35095325:A:G p.(Phe80=) NC_000009.12:35095325:A:G p.(Phe80=) NC_000009.12:35095325:A:G Identity +NM_001844.5:c.1584A>G NP_001835.3:p.Gly528= NC_000012.12:47985823:T:C p.(Gly528=) NC_000012.12:47985823:T:C p.(Gly528=) NC_000012.12:47985823:T:C Identity +NM_001164507.2:c.7206A>G NP_001157979.2:p.Lys2402= NC_000002.12:151650594:T:C p.(Lys2402=) NC_000002.12:151650594:T:C p.(Lys2402=) NC_000002.12:151650594:T:C Identity +NM_000720.4:c.1827G>T NP_000711.1:p.Arg609= NC_000003.12:53723533:G:T p.(Arg609=) NC_000003.12:53723533:G:T p.(Arg609=) NC_000003.12:53723533:G:T Identity +NM_007123.6:c.2418T>C NP_009054.6:p.Thr806= NC_000001.11:216246975:A:G p.(Thr806=) NC_000001.11:216246975:A:G p.(Thr806=) NC_000001.11:216246975:A:G Identity +NM_018117.12:c.33G>C NP_060587.8:p.Ser11= NC_000010.11:120851452:G:C p.(Ser11=) NC_000010.11:120851452:G:C p.(Ser11=) NC_000010.11:120851452:G:C Identity +NM_001122633.3:c.3190C>T NP_001116105.2:p.Leu1064= NC_000002.12:210647910:C:T p.(Leu1064=) NC_000002.12:210647910:C:T p.(Leu1064=) NC_000002.12:210647910:C:T Identity +NM_000426.4:c.4647A>T NP_000417.3:p.Arg1549= NC_000006.12:129353286:A:T p.(Arg1549=) NC_000006.12:129353286:A:T p.(Arg1549=) NC_000006.12:129353286:A:T Identity +NM_001371986.1:c.6462A>G NP_001358915.1:p.Lys2154= NC_000002.12:209937626:A:G p.(Lys2154=) NC_000002.12:209937626:A:G p.(Lys2154=) NC_000002.12:209937626:A:G Identity +NM_004423.4:c.1002C>G NP_004414.3:p.Ala334= NC_000003.12:184166626:C:G p.(Ala334=) NC_000003.12:184166626:C:G p.(Ala334=) NC_000003.12:184166626:C:G Identity +NM_001184720.2:c.597G>T NP_001171649.1:p.Pro199= NC_000003.12:149009390:G:T p.(Pro199=) NC_000003.12:149009390:G:T p.(Pro199=) NC_000003.12:149009390:G:T Identity +NM_001127218.3:c.100_105del NP_001120690.1:p.Asn34_Ser35del NC_000007.14:44121948:GGAGTTGG:GG p.(Asn34_Ser35del) NC_000007.14:44121948:GGAGTTGG:GG p.(Asn34_Ser35del) NC_000007.14:44121948:GGAGTT: Identity +NM_005502.4:c.1335T>C NP_005493.2:p.Asn445= NC_000009.12:104832747:A:G p.(Asn445=) NC_000009.12:104832747:A:G p.(Asn445=) NC_000009.12:104832747:A:G Identity +NM_001080449.3:c.231A>G NP_001073918.2:p.Lys77= NC_000010.11:68470006:T:C p.(Lys77=) NC_000010.11:68470006:T:C p.(Lys77=) NC_000010.11:68470006:T:C Identity +NM_000920.4:c.1219C>T NP_000911.2:p.Leu407= NC_000011.10:66863922:G:A p.(Leu407=) NC_000011.10:66863922:G:A p.(Leu407=) NC_000011.10:66863922:G:A Identity +NM_001006600.3:c.27G>A NP_001006600.1:p.Val9= NC_000005.10:65992744:G:A p.(Val9=) NC_000005.10:65992744:G:A p.(Val9=) NC_000005.10:65992744:G:A Identity +NM_000038.6:c.6420A>C NP_000029.2:p.Ser2140= NC_000005.10:112842013:A:C p.(Ser2140=) NC_000005.10:112842013:A:C p.(Ser2140=) NC_000005.10:112842013:A:C Identity +NM_006015.6:c.2619C>T NP_006006.3:p.Ala873= NC_000001.11:26763171:C:T p.(Ala873=) NC_000001.11:26763171:C:T p.(Ala873=) NC_000001.11:26763171:C:T Identity +NM_001289905.2:c.825G>C NP_001276834.1:p.Gly275= NC_000022.11:17103555:G:C p.(Gly275=) NC_000022.11:17103555:G:C p.(Gly275=) NC_000022.11:17103555:G:C Identity +NM_001161520.2:c.150A>G NP_001154992.2:p.Gln50= NC_000007.14:107558059:T:C p.(Gln50=) NC_000007.14:107558059:T:C p.(Gln50=) NC_000007.14:107558059:T:C Identity +NM_021076.4:c.2871C>T NP_066554.2:p.Thr957= NC_000022.11:29490510:C:T p.(Thr957=) NC_000022.11:29490510:C:T p.(Thr957=) NC_000022.11:29490510:C:T Identity +NM_001142339.3:c.873G>A NP_001135811.1:p.Gly291= NC_000018.10:11872339:G:A p.(Gly291=) NC_000018.10:11872339:G:A p.(Gly291=) NC_000018.10:11872339:G:A Identity +NM_001142281.2:c.763C>T NP_001135753.1:p.Leu255= NC_000011.10:118592750:C:T p.(Leu255=) NC_000011.10:118592750:C:T p.(Leu255=) NC_000011.10:118592750:C:T Identity +NM_001410997.1:c.45C>T NP_001397926.1:p.Phe15= NC_000011.10:61364434:C:T p.(Phe15=) NC_000011.10:61364434:C:T p.(Phe15=) NC_000011.10:61364434:C:T Identity +NM_000159.4:c.1200G>T NP_000150.1:p.Val400= NC_000019.10:12897819:G:T p.(Val400=) NC_000019.10:12897819:G:T p.(Val400=) NC_000019.10:12897819:G:T Identity +NM_002709.3:c.214C>T NP_002700.1:p.Leu72= NC_000002.12:28778837:C:T p.(Leu72=) NC_000002.12:28778837:C:T p.(Leu72=) NC_000002.12:28778837:C:T Identity +NM_001351273.1:c.3348C>G NP_001338202.1:p.Pro1116= NC_000019.10:1466651:C:G p.(Pro1116=) NC_000019.10:1466651:C:G p.(Pro1116=) NC_000019.10:1466651:C:G Identity +NM_000465.4:c.1092A>G NP_000456.2:p.Ser364= NC_000002.12:214780781:T:C p.(Ser364=) NC_000002.12:214780781:T:C p.(Ser364=) NC_000002.12:214780781:T:C Identity +NM_000282.4:c.1512C>T NP_000273.2:p.Leu504= NC_000013.11:100330642:C:T p.(Leu504=) NC_000013.11:100330642:C:T p.(Leu504=) NC_000013.11:100330642:C:T Identity +NM_001306090.2:c.1647C>G NP_001293019.1:p.Leu549= NC_000004.12:5783634:C:G p.(Leu549=) NC_000004.12:5783634:C:G p.(Leu549=) NC_000004.12:5783634:C:G Identity +NM_133259.4:c.987A>T NP_573566.2:p.Thr329= NC_000002.12:43974635:T:A p.(Thr329=) NC_000002.12:43974635:T:A p.(Thr329=) NC_000002.12:43974635:T:A Identity +NM_001127698.2:c.1410C>T NP_001121170.1:p.Cys470= NC_000005.10:148101887:C:T p.(Cys470=) NC_000005.10:148101887:C:T p.(Cys470=) NC_000005.10:148101887:C:T Identity +NM_001352773.2:c.1107G>A NP_001339702.1:p.Val369= NC_000017.11:41764763:C:T p.(Val369=) NC_000017.11:41764763:C:T p.(Val369=) NC_000017.11:41764763:C:T Identity +NM_001042472.3:c.774C>T NP_001035937.1:p.Arg258= NC_000020.11:25308469:G:A p.(Arg258=) NC_000020.11:25308469:G:A p.(Arg258=) NC_000020.11:25308469:G:A Identity +NM_001256850.1:c.53220T>C NP_001243779.1:p.Asp17740= NC_000002.12:178594350:A:G p.(Asp17740=) NC_000002.12:178594350:A:G p.(Asp17740=) NC_000002.12:178594350:A:G Identity +NM_001384732.1:c.3009A>G NP_001371661.1:p.Glu1003= NC_000005.10:37206336:T:C p.(Glu1003=) NC_000005.10:37206336:T:C p.(Glu1003=) NC_000005.10:37206336:T:C Identity +NM_001252127.2:c.2391G>T NP_001239056.1:p.Leu797= NC_000015.10:50997594:G:T p.(Leu797=) NC_000015.10:50997594:G:T p.(Leu797=) NC_000015.10:50997594:G:T Identity +NM_001200001.2:c.3210T>A NP_001186930.1:p.Ser1070= NC_000001.11:119937983:A:T p.(Ser1070=) NC_000001.11:119937983:A:T p.(Ser1070=) NC_000001.11:119937983:A:T Identity +NM_002439.5:c.3099G>A NP_002430.3:p.Leu1033= NC_000005.10:80864910:G:A p.(Leu1033=) NC_000005.10:80864910:G:A p.(Leu1033=) NC_000005.10:80864910:G:A Identity +NM_001130955.2:c.2814G>T NP_001124427.2:p.Val938= NC_000019.10:7468883:G:T p.(Val938=) NC_000019.10:7468883:G:T p.(Val938=) NC_000019.10:7468883:G:T Identity +NM_006172.4:c.45G>T NP_006163.1:p.Leu15= NC_000001.11:11847639:C:A p.(Leu15=) NC_000001.11:11847639:C:A p.(Leu15=) NC_000001.11:11847639:C:A Identity +NM_003059.3:c.159G>C NP_003050.2:p.Pro53= NC_000005.10:132294774:G:C p.(Pro53=) NC_000005.10:132294774:G:C p.(Pro53=) NC_000005.10:132294774:G:C Identity +NM_001346754.2:c.879C>T NP_001333683.1:p.Gly293= NC_000017.11:36537979:C:T p.(Gly293=) NC_000017.11:36537979:C:T p.(Gly293=) NC_000017.11:36537979:C:T Identity +NM_004525.3:c.1614G>A NP_004516.2:p.Leu538= NC_000002.12:169277902:C:T p.(Leu538=) NC_000002.12:169277902:C:T p.(Leu538=) NC_000002.12:169277902:C:T Identity +NM_001130103.2:c.1605A>C NP_001123575.1:p.Pro535= NC_000010.11:69930506:A:C p.(Pro535=) NC_000010.11:69930506:A:C p.(Pro535=) NC_000010.11:69930506:A:C Identity +NM_138348.6:c.103_120dup NP_612357.4:p.Gln40_Pro41insAlaAlaAlaSerGlyGln NC_000005.10:14664925:AGGCGGCGGCCAGCGGGCAG:AGGCGGCGGCCAGCGGGCAGGCGGCGGCCAGCGGGCAG p.(Ala35_Gln40dup) NC_000005.10:14664925:AGGCGGCGGCCAGCGGGCAG:AGGCGGCGGCCAGCGGGCAGGCGGCGGCCAGCGGGCAG p.(Ala35_Gln40dup) ERR:SPDI Analogous +NM_003482.4:c.8778A>G NP_003473.3:p.Val2926= NC_000012.12:49038577:T:C p.(Val2926=) NC_000012.12:49038577:T:C p.(Val2926=) NC_000012.12:49038577:T:C Identity +NM_001909.5:c.984_985del NP_001900.1:p.Pro328_Cys329insTer NC_000011.10:1753888:AG: p.(Cys329Ter) NC_000011.10:1753888:AG: p.(Cys329Ter) NC_000011.10:1753888:AG: Analogous +NM_080473.5:c.957C>T NP_536721.1:p.Ser319= NC_000020.11:62465420:G:A p.(Ser319=) NC_000020.11:62465420:G:A p.(Ser319=) NC_000020.11:62465420:G:A Identity +NM_001005207.5:c.906A>G NP_001005207.1:p.Gln302= NC_000017.11:59062602:T:C p.(Gln302=) NC_000017.11:59062602:T:C p.(Gln302=) NC_000017.11:59062602:T:C Identity +NM_000404.4:c.627C>T NP_000395.3:p.His209= NC_000003.12:33058194:G:A p.(His209=) NC_000003.12:33058194:G:A p.(His209=) NC_000003.12:33058194:G:A Identity +NM_001318360.2:c.3534T>A NP_001305289.1:p.Thr1178= NC_000009.12:108874949:A:T p.(Thr1178=) NC_000009.12:108874949:A:T p.(Thr1178=) NC_000009.12:108874949:A:T Identity +NM_001161520.2:c.1902_1904delinsCTT NP_001154992.2:p.Met634_Lys635delinsIleLeu NC_000007.14:107236636:TTC:AAG p.(Met634_Lys635delinsIleLeu) NC_000007.14:107236636:TTC:AAG p.(Met634_Lys635delinsIleLeu) NC_000007.14:107236636:TTC:AAG Identity +NM_000081.4:c.3960A>G NP_000072.2:p.Leu1320= NC_000001.11:235800365:T:C p.(Leu1320=) NC_000001.11:235800365:T:C p.(Leu1320=) NC_000001.11:235800365:T:C Identity +NM_000339.3:c.2442C>A NP_000330.3:p.Gly814= NC_000016.10:56892155:C:A p.(Gly814=) NC_000016.10:56892155:C:A p.(Gly814=) NC_000016.10:56892155:C:A Identity +NM_001081640.2:c.10270C>T NP_001075109.1:p.Leu3424= NC_000008.11:47799236:G:A p.(Leu3424=) NC_000008.11:47799236:G:A p.(Leu3424=) NC_000008.11:47799236:G:A Identity +NM_000191.3:c.27G>C NP_000182.2:p.Pro9= NC_000001.11:23825388:C:G p.(Pro9=) NC_000001.11:23825388:C:G p.(Pro9=) NC_000001.11:23825388:C:G Identity +NM_001042385.2:c.1158C>G NP_001035844.1:p.Ala386= NC_000002.12:44332467:G:C p.(Ala386=) NC_000002.12:44332467:G:C p.(Ala386=) NC_000002.12:44332467:G:C Identity +NM_001289396.2:c.807G>C NP_001276325.1:p.Leu269= NC_000009.12:2047244:G:C p.(Leu269=) NC_000009.12:2047244:G:C p.(Leu269=) NC_000009.12:2047244:G:C Identity +NM_138694.4:c.51A>G NP_619639.3:p.Ala17= NC_000006.12:52084882:T:C p.(Ala17=) NC_000006.12:52084882:T:C p.(Ala17=) NC_000006.12:52084882:T:C Identity +NM_000426.4:c.8019A>G NP_000417.3:p.Pro2673= NC_000006.12:129492020:A:G p.(Pro2673=) NC_000006.12:129492020:A:G p.(Pro2673=) NC_000006.12:129492020:A:G Identity +NM_001304420.3:c.2073A>G NP_001291349.1:p.Glu691= NC_000003.12:57913260:A:G p.(Glu691=) NC_000003.12:57913260:A:G p.(Glu691=) NC_000003.12:57913260:A:G Identity +NM_000043.6:c.881del NP_000034.1:p.Thr293_Leu294insTer NC_000010.11:89014321:TT:T p.(Leu294Ter) NC_000010.11:89014321:TT:T p.(Leu294Ter) NC_000010.11:89014322:T: Analogous +NM_000254.3:c.741C>T NP_000245.2:p.Ser247= NC_000001.11:236816519:C:T p.(Ser247=) NC_000001.11:236816519:C:T p.(Ser247=) NC_000001.11:236816519:C:T Identity +NM_000426.4:c.3915A>G NP_000417.3:p.Glu1305= NC_000006.12:129315940:A:G p.(Glu1305=) NC_000006.12:129315940:A:G p.(Glu1305=) NC_000006.12:129315940:A:G Identity +NM_001166136.2:c.1257G>A NP_001159608.1:p.Leu419= NC_000004.12:5632005:C:T p.(Leu419=) NC_000004.12:5632005:C:T p.(Leu419=) NC_000004.12:5632005:C:T Identity +NM_000297.4:c.2352A>G NP_000288.1:p.Lys784= NC_000004.12:88065872:A:G p.(Lys784=) NC_000004.12:88065872:A:G p.(Lys784=) NC_000004.12:88065872:A:G Identity +NM_001130455.2:c.2490G>A NP_001123927.1:p.Gly830= NC_000002.12:71564188:G:A p.(Gly830=) NC_000002.12:71564188:G:A p.(Gly830=) NC_000002.12:71564188:G:A Identity +NM_016204.4:c.492T>C NP_057288.1:p.His164= NC_000010.11:47324985:T:C p.(His164=) NC_000010.11:47324985:T:C p.(His164=) NC_000010.11:47324985:T:C Identity +NM_000286.3:c.875_876del NP_000277.1:p.Asn291_Ser292insTer NC_000017.11:35575985:AGAG:AG p.(Ser292Ter) NC_000017.11:35575985:AGAG:AG p.(Ser292Ter) NC_000017.11:35575985:AG: Analogous +NM_002238.4:c.2250C>T NP_002229.1:p.Ser750= NC_000001.11:210683919:G:A p.(Ser750=) NC_000001.11:210683919:G:A p.(Ser750=) NC_000001.11:210683919:G:A Identity +NM_001144996.2:c.1095G>A NP_001138468.1:p.Gln365= NC_000012.12:55698491:C:T p.(Gln365=) NC_000012.12:55698491:C:T p.(Gln365=) NC_000012.12:55698491:C:T Identity +NM_001256850.1:c.29553G>A NP_001243779.1:p.Thr9851= NC_000002.12:178702174:C:T p.(Thr9851=) NC_000002.12:178702174:C:T p.(Thr9851=) NC_000002.12:178702174:C:T Identity +NM_001256468.2:c.4017A>G NP_001243397.1:p.Glu1339= NC_000010.11:75029389:A:G p.(Glu1339=) NC_000010.11:75029389:A:G p.(Glu1339=) NC_000010.11:75029389:A:G Identity +NM_001303496.3:c.69A>G NP_001290425.1:p.Val23= NC_000007.14:93135902:T:C p.(Val23=) NC_000007.14:93135902:T:C p.(Val23=) NC_000007.14:93135902:T:C Identity +NM_001256053.2:c.3525A>G NP_001242982.1:p.Gln1175= NC_000010.11:27034921:T:C p.(Gln1175=) NC_000010.11:27034921:T:C p.(Gln1175=) NC_000010.11:27034921:T:C Identity +NM_080679.3:c.4521G>A NP_542410.2:p.Thr1507= NC_000006.12:33164872:C:T p.(Thr1507=) NC_000006.12:33164872:C:T p.(Thr1507=) NC_000006.12:33164872:C:T Identity +NM_000339.3:c.2480_2506del NP_000330.3:p.Ala827_Gln835del NC_000016.10:56892977:GGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGG:GGAGCAGG p.(Ala827_Gln835del) NC_000016.10:56892977:GGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGG:GGAGCAGG p.(Ala827_Gln835del) NC_000016.10:56892985:CCACCACCATCTTCCAGTCGGAGCAGG: Identity +NM_002076.4:c.1401C>T NP_002067.1:p.Cys467= NC_000012.12:64721612:G:A p.(Cys467=) NC_000012.12:64721612:G:A p.(Cys467=) NC_000012.12:64721612:G:A Identity +NM_000255.4:c.342T>C NP_000246.2:p.Ser114= NC_000006.12:49459124:A:G p.(Ser114=) NC_000006.12:49459124:A:G p.(Ser114=) NC_000006.12:49459124:A:G Identity +NM_001127198.5:c.2280G>A NP_001120670.1:p.Glu760= NC_000017.11:78113621:C:T p.(Glu760=) NC_000017.11:78113621:C:T p.(Glu760=) NC_000017.11:78113621:C:T Identity +NM_001130455.2:c.2856A>G NP_001123927.1:p.Glu952= NC_000002.12:71569861:A:G p.(Glu952=) NC_000002.12:71569861:A:G p.(Glu952=) NC_000002.12:71569861:A:G Identity +NM_024652.6:c.3486C>T NP_078928.3:p.Tyr1162= NC_000015.10:101051756:C:T p.(Tyr1162=) NC_000015.10:101051756:C:T p.(Tyr1162=) NC_000015.10:101051756:C:T Identity +NM_001288607.2:c.2898C>T NP_001275536.1:p.Ser966= NC_000001.11:150559831:C:T p.(Ser966=) NC_000001.11:150559831:C:T p.(Ser966=) NC_000001.11:150559831:C:T Identity +NM_001184.4:c.1746T>C NP_001175.2:p.Phe582= NC_000003.12:142558762:A:G p.(Phe582=) NC_000003.12:142558762:A:G p.(Phe582=) NC_000003.12:142558762:A:G Identity +NM_001257970.1:c.2100C>T NP_001244899.1:p.Asn700= NC_000017.11:80202300:C:T p.(Asn700=) NC_000017.11:80202300:C:T p.(Asn700=) NC_000017.11:80202300:C:T Identity +NM_005477.3:c.48G>A NP_005468.1:p.Pro16= NC_000015.10:73368222:C:T p.(Pro16=) NC_000015.10:73368222:C:T p.(Pro16=) NC_000015.10:73368222:C:T Identity +NM_001206855.3:c.1761C>T NP_001193784.1:p.Thr587= NC_000007.14:100620988:G:A p.(Thr587=) NC_000007.14:100620988:G:A p.(Thr587=) NC_000007.14:100620988:G:A Identity +NM_000448.3:c.2949A>G NP_000439.2:p.Lys983= NC_000011.10:36576252:A:G p.(Lys983=) NC_000011.10:36576252:A:G p.(Lys983=) NC_000011.10:36576252:A:G Identity +NM_001039885.3:c.1314T>C NP_001034974.1:p.Asp438= NC_000019.10:46756763:T:C p.(Asp438=) NC_000019.10:46756763:T:C p.(Asp438=) NC_000019.10:46756763:T:C Identity +NM_001363850.1:c.1584T>C NP_001350779.1:p.Ala528= NC_000016.10:89548033:T:C p.(Ala528=) NC_000016.10:89548033:T:C p.(Ala528=) NC_000016.10:89548033:T:C Identity +NM_003482.4:c.13221G>A NP_003473.3:p.Val4407= NC_000012.12:49031483:C:T p.(Val4407=) NC_000012.12:49031483:C:T p.(Val4407=) NC_000012.12:49031483:C:T Identity +NM_001141945.3:c.583C>T NP_001135417.1:p.Leu195= NC_000010.11:88941261:G:A p.(Leu195=) NC_000010.11:88941261:G:A p.(Leu195=) NC_000010.11:88941261:G:A Identity +NM_001378355.1:c.1323G>A NP_001365284.1:p.Thr441= NC_000019.10:49832105:G:A p.(Thr441=) NC_000019.10:49832105:G:A p.(Thr441=) NC_000019.10:49832105:G:A Identity +NM_000272.5:c.1500T>C NP_000263.2:p.Ser500= NC_000002.12:110146772:A:G p.(Ser500=) NC_000002.12:110146772:A:G p.(Ser500=) NC_000002.12:110146772:A:G Identity +NM_001271938.2:c.1497G>A NP_001258867.1:p.Pro499= NC_000019.10:42337189:G:A p.(Pro499=) NC_000019.10:42337189:G:A p.(Pro499=) NC_000019.10:42337189:G:A Identity +NM_032242.4:c.2640G>A NP_115618.3:p.Thr880= NC_000003.12:127014512:G:A p.(Thr880=) NC_000003.12:127014512:G:A p.(Thr880=) NC_000003.12:127014512:G:A Identity +NM_001271667.2:c.606C>T NP_001258596.1:p.Leu202= NC_000006.12:15523181:G:A p.(Leu202=) NC_000006.12:15523181:G:A p.(Leu202=) NC_000006.12:15523181:G:A Identity +NM_001144881.2:c.1035G>A NP_001138353.1:p.Gln345= NC_000012.12:42464998:C:T p.(Gln345=) NC_000012.12:42464998:C:T p.(Gln345=) NC_000012.12:42464998:C:T Identity +NM_001166136.2:c.69G>A NP_001159608.1:p.Leu23= NC_000004.12:5694475:C:T p.(Leu23=) NC_000004.12:5694475:C:T p.(Leu23=) NC_000004.12:5694475:C:T Identity +NM_005236.3:c.2749T>C NP_005227.1:p.Ter917Arg NC_000016.10:13948344:T:C p.(Ter917ArgextTer83) NC_000016.10:13948344:T:C p.(Ter917ArgextTer83) NC_000016.10:13948344:T:C Analogous +NM_001375654.1:c.600T>C NP_001362583.1:p.Ala200= NC_000008.11:54621565:T:C p.(Ala200=) NC_000008.11:54621565:T:C p.(Ala200=) NC_000008.11:54621565:T:C Identity +NM_001003722.2:c.1986A>G NP_001003722.1:p.Ser662= NC_000009.12:128540295:A:G p.(Ser662=) NC_000009.12:128540295:A:G p.(Ser662=) NC_000009.12:128540295:A:G Identity +NM_005257.6:c.531_545del NP_005248.2:p.Ala179_Ala183del NC_000018.10:22171663:GCCGCGGCGGCAGCAGCCGCGGCGGC:GCCGCGGCGGC p.(Ala179_Ala183del) NC_000018.10:22171663:GCCGCGGCGGCAGCAGCCGCGGCGGC:GCCGCGGCGGC p.(Ala179_Ala183del) NC_000018.10:22171674:AGCAGCCGCGGCGGC: Identity +NM_001080467.3:c.2058G>A NP_001073936.1:p.Thr686= NC_000018.10:49929543:C:T p.(Thr686=) NC_000018.10:49929543:C:T p.(Thr686=) NC_000018.10:49929543:C:T Identity +NM_001128602.2:c.2277T>C NP_001122074.1:p.Gly759= NC_000015.10:38490565:A:G p.(Gly759=) NC_000015.10:38490565:A:G p.(Gly759=) NC_000015.10:38490565:A:G Identity +NM_001127487.2:c.843T>C NP_001120959.1:p.Tyr281= NC_000007.14:128837540:T:C p.(Tyr281=) NC_000007.14:128837540:T:C p.(Tyr281=) NC_000007.14:128837540:T:C Identity +NM_002234.4:c.183C>T NP_002225.2:p.Asp61= NC_000012.12:5044329:C:T p.(Asp61=) NC_000012.12:5044329:C:T p.(Asp61=) NC_000012.12:5044329:C:T Identity +NM_001157.3:c.174G>C NP_001148.1:p.Ala58= NC_000010.11:80169355:C:G p.(Ala58=) NC_000010.11:80169355:C:G p.(Ala58=) NC_000010.11:80169355:C:G Identity +NM_001177428.1:c.2385G>A NP_001170899.1:p.Val795= NC_000012.12:109783710:C:T p.(Val795=) NC_000012.12:109783710:C:T p.(Val795=) NC_000012.12:109783710:C:T Identity +NM_001257180.2:c.1641C>T NP_001244109.1:p.Gly547= NC_000008.11:42430131:G:A p.(Gly547=) NC_000008.11:42430131:G:A p.(Gly547=) NC_000008.11:42430131:G:A Identity +NM_000017.4:c.672G>A NP_000008.1:p.Leu224= NC_000012.12:120738326:G:A p.(Leu224=) NC_000012.12:120738326:G:A p.(Leu224=) NC_000012.12:120738326:G:A Identity +NM_001190241.2:c.1350A>G NP_001177170.1:p.Pro450= NC_000003.12:160279267:T:C p.(Pro450=) NC_000003.12:160279267:T:C p.(Pro450=) NC_000003.12:160279267:T:C Identity +NM_001164674.2:c.42T>G NP_001158146.1:p.Pro14= NC_000003.12:4467203:A:C p.(Pro14=) NC_000003.12:4467203:A:C p.(Pro14=) NC_000003.12:4467203:A:C Identity +NM_000218.3:c.636C>G NP_000209.2:p.Val212= NC_000011.10:2571355:C:G p.(Val212=) NC_000011.10:2571355:C:G p.(Val212=) NC_000011.10:2571355:C:G Identity +NM_001278055.2:c.4512A>G NP_001264984.1:p.Gln1504= NC_000013.11:23338922:T:C p.(Gln1504=) NC_000013.11:23338922:T:C p.(Gln1504=) NC_000013.11:23338922:T:C Identity +NM_000540.3:c.3813G>C NP_000531.2:p.Leu1271= NC_000019.10:38473423:G:C p.(Leu1271=) NC_000019.10:38473423:G:C p.(Leu1271=) NC_000019.10:38473423:G:C Identity +NM_001321851.1:c.2634C>T NP_001308780.1:p.Thr878= NC_000014.9:92005338:G:A p.(Thr878=) NC_000014.9:92005338:G:A p.(Thr878=) NC_000014.9:92005338:G:A Identity +NM_000142.5:c.1254G>A NP_000133.1:p.Pro418= NC_000004.12:1804507:G:A p.(Pro418=) NC_000004.12:1804507:G:A p.(Pro418=) NC_000004.12:1804507:G:A Identity +NM_000254.3:c.141C>T NP_000245.2:p.Asn47= NC_000001.11:236803533:C:T p.(Asn47=) NC_000001.11:236803533:C:T p.(Asn47=) NC_000001.11:236803533:C:T Identity +NM_001178098.2:c.444C>T NP_001171569.1:p.Ser148= NC_000016.10:28932998:C:T p.(Ser148=) NC_000016.10:28932998:C:T p.(Ser148=) NC_000016.10:28932998:C:T Identity +NM_001135040.3:c.1002T>C NP_001128512.1:p.Ala334= NC_000002.12:74370530:A:G p.(Ala334=) NC_000002.12:74370530:A:G p.(Ala334=) NC_000002.12:74370530:A:G Identity +NM_000290.4:c.369G>A NP_000281.2:p.Pro123= NC_000007.14:44065160:C:T p.(Pro123=) NC_000007.14:44065160:C:T p.(Pro123=) NC_000007.14:44065160:C:T Identity +NM_001375808.2:c.249C>T NP_001362737.1:p.Asn83= NC_000018.10:2954542:G:A p.(Asn83=) NC_000018.10:2954542:G:A p.(Asn83=) NC_000018.10:2954542:G:A Identity +NM_001364858.1:c.1167C>T NP_001351787.1:p.Gly389= NC_000007.14:4788878:C:T p.(Gly389=) NC_000007.14:4788878:C:T p.(Gly389=) NC_000007.14:4788878:C:T Identity +NM_001252043.2:c.1173A>G NP_001238972.1:p.Glu391= NC_000016.10:29983244:A:G p.(Glu391=) NC_000016.10:29983244:A:G p.(Glu391=) NC_000016.10:29983244:A:G Identity +NM_001182.5:c.921A>G NP_001173.2:p.Glu307= NC_000005.10:126559326:T:C p.(Glu307=) NC_000005.10:126559326:T:C p.(Glu307=) NC_000005.10:126559326:T:C Identity +NM_001376.5:c.1395G>A NP_001367.2:p.Gln465= NC_000014.9:101983542:G:A p.(Gln465=) NC_000014.9:101983542:G:A p.(Gln465=) NC_000014.9:101983542:G:A Identity +NM_018848.3:c.1332A>G NP_061336.1:p.Gln444= NC_000020.11:10405627:T:C p.(Gln444=) NC_000020.11:10405627:T:C p.(Gln444=) NC_000020.11:10405627:T:C Identity +NM_001363729.2:c.1465C>T NP_001350658.1:p.Leu489= NC_000020.11:36904194:G:A p.(Leu489=) NC_000020.11:36904194:G:A p.(Leu489=) NC_000020.11:36904194:G:A Identity +LRG_524t1:c.3082T>C LRG_524p1:p.Leu1028= NC_000008.11:31141543:T:C ERR:Data provider error: ValueError: Transcript LRG_524t1 not found ERR:Data provider error: ValueError: Transcript LRG_524t1 not found ERR:AlignmentMapper(tx_ac=LRG_524t1, alt_ac=LRG_524t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_524t1, alt_ac=LRG_524t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_524t1 not found +NM_001294332.2:c.159T>C NP_001281261.1:p.Ala53= NC_000005.10:224367:T:C p.(Ala53=) NC_000005.10:224367:T:C p.(Ala53=) NC_000005.10:224367:T:C Identity +NM_152594.3:c.1170C>G NP_689807.1:p.Pro390= NC_000015.10:38351498:C:G p.(Pro390=) NC_000015.10:38351498:C:G p.(Pro390=) NC_000015.10:38351498:C:G Identity +NM_024577.4:c.1923C>T NP_078853.2:p.Arg641= NC_000005.10:149027808:G:A p.(Arg641=) NC_000005.10:149027808:G:A p.(Arg641=) NC_000005.10:149027808:G:A Identity +NM_145059.3:c.1014C>T NP_659496.2:p.Leu338= NC_000016.10:70470371:C:T p.(Leu338=) NC_000016.10:70470371:C:T p.(Leu338=) NC_000016.10:70470371:C:T Identity +NM_152594.3:c.52C>A NP_689807.1:p.Arg18= NC_000015.10:38299391:C:A p.(Arg18=) NC_000015.10:38299391:C:A p.(Arg18=) NC_000015.10:38299391:C:A Identity +NM_001256468.2:c.228C>T NP_001243397.1:p.Asn76= NC_000010.11:74843084:C:T p.(Asn76=) NC_000010.11:74843084:C:T p.(Asn76=) NC_000010.11:74843084:C:T Identity +NM_001278359.2:c.18G>A NP_001265288.1:p.Lys6= NC_000004.12:40243403:G:A p.(Lys6=) NC_000004.12:40243403:G:A p.(Lys6=) NC_000004.12:40243403:G:A Identity +NM_001279354.2:c.423T>C NP_001266283.1:p.Tyr141= NC_000001.11:150077185:T:C p.(Tyr141=) NC_000001.11:150077185:T:C p.(Tyr141=) NC_000001.11:150077185:T:C Identity +NM_006766.5:c.2697T>C NP_006757.2:p.Tyr899= NC_000008.11:41941183:A:G p.(Tyr899=) NC_000008.11:41941183:A:G p.(Tyr899=) NC_000008.11:41941183:A:G Identity +NM_015295.3:c.4524T>A NP_056110.2:p.Val1508= NC_000018.10:2762193:T:A p.(Val1508=) NC_000018.10:2762193:T:A p.(Val1508=) NC_000018.10:2762193:T:A Identity +NM_002334.4:c.1341C>T NP_002325.2:p.Arg447= NC_000011.10:46894787:G:A p.(Arg447=) NC_000011.10:46894787:G:A p.(Arg447=) NC_000011.10:46894787:G:A Identity +NM_001256850.1:c.84318C>A NP_001243779.1:p.Thr28106= NC_000002.12:178553763:G:T p.(Thr28106=) NC_000002.12:178553763:G:T p.(Thr28106=) NC_000002.12:178553763:G:T Identity +NM_001165962.2:c.978G>A NP_001159434.1:p.Gln326= NC_000017.11:13002560:C:T p.(Gln326=) NC_000017.11:13002560:C:T p.(Gln326=) NC_000017.11:13002560:C:T Identity +NM_001308122.2:c.1362C>T NP_001295051.1:p.Val454= NC_000005.10:132392454:C:T p.(Val454=) NC_000005.10:132392454:C:T p.(Val454=) NC_000005.10:132392454:C:T Identity +NM_001845.6:c.1941C>A NP_001836.3:p.Pro647= NC_000013.11:110183232:G:T p.(Pro647=) NC_000013.11:110183232:G:T p.(Pro647=) NC_000013.11:110183232:G:T Identity +NM_000218.3:c.606C>T NP_000209.2:p.Asp202= NC_000011.10:2571325:C:T p.(Asp202=) NC_000011.10:2571325:C:T p.(Asp202=) NC_000011.10:2571325:C:T Identity +NM_001362843.2:c.7056C>T NP_001349772.1:p.Ser2352= NC_000022.11:41178844:C:T p.(Ser2352=) NC_000022.11:41178844:C:T p.(Ser2352=) NC_000022.11:41178844:C:T Identity +NM_001321135.2:c.15G>A NP_001308064.1:p.Leu5= NC_000015.10:76995587:G:A p.(Leu5=) NC_000015.10:76995587:G:A p.(Leu5=) NC_000015.10:76995587:G:A Identity +NM_001003841.3:c.909G>A NP_001003841.1:p.Ser303= NC_000005.10:1216578:G:A p.(Ser303=) NC_000005.10:1216578:G:A p.(Ser303=) NC_000005.10:1216578:G:A Identity +NM_000033.4:c.762G>A NP_000024.2:p.Thr254= NC_000023.11:153726027:G:A p.(Thr254=) NC_000023.11:153726027:G:A p.(Thr254=) NC_000023.11:153726027:G:A Identity +NM_001141973.3:c.1228C>A NP_001135445.1:p.Arg410= NC_000001.11:16996448:G:T p.(Arg410=) NC_000001.11:16996448:G:T p.(Arg410=) NC_000001.11:16996448:G:T Identity +NM_000484.4:c.1653G>A NP_000475.1:p.Val551= NC_000021.9:25954623:C:T p.(Val551=) NC_000021.9:25954623:C:T p.(Val551=) NC_000021.9:25954623:C:T Identity +NM_001385197.1:c.1689C>A NP_001372126.1:p.Ile563= NC_000019.10:10362161:G:T p.(Ile563=) NC_000019.10:10362161:G:T p.(Ile563=) NC_000019.10:10362161:G:T Identity +NM_005559.4:c.6933C>T NP_005550.2:p.Asp2311= NC_000018.10:6966263:G:A p.(Asp2311=) NC_000018.10:6966263:G:A p.(Asp2311=) NC_000018.10:6966263:G:A Identity +NM_000218.3:c.1326T>C NP_000209.2:p.His442= NC_000011.10:2588786:T:C p.(His442=) NC_000011.10:2588786:T:C p.(His442=) NC_000011.10:2588786:T:C Identity +NM_015512.5:c.7815C>T NP_056327.4:p.Tyr2605= NC_000003.12:52382328:C:T p.(Tyr2605=) NC_000003.12:52382328:C:T p.(Tyr2605=) NC_000003.12:52382328:C:T Identity +NM_017617.5:c.4791C>T NP_060087.3:p.Ser1597= NC_000009.12:136504899:G:A p.(Ser1597=) NC_000009.12:136504899:G:A p.(Ser1597=) NC_000009.12:136504899:G:A Identity +NM_000177.5:c.1908C>T NP_000168.1:p.Ser636= NC_000009.12:121327474:C:T p.(Ser636=) NC_000009.12:121327474:C:T p.(Ser636=) NC_000009.12:121327474:C:T Identity +NM_004738.5:c.547C>T NP_004729.1:p.Leu183= NC_000020.11:58441056:C:T p.(Leu183=) NC_000020.11:58441056:C:T p.(Leu183=) NC_000020.11:58441056:C:T Identity +NM_001252127.2:c.1900T>C NP_001239056.1:p.Leu634= NC_000015.10:50993403:T:C p.(Leu634=) NC_000015.10:50993403:T:C p.(Leu634=) NC_000015.10:50993403:T:C Identity +NM_001026.5:c.384C>G NP_001017.1:p.Gly128= NC_000010.11:78037297:C:G p.(Gly128=) NC_000010.11:78037297:C:G p.(Gly128=) NC_000010.11:78037297:C:G Identity +NM_001079.4:c.1479C>T NP_001070.2:p.Tyr493= NC_000002.12:97737661:C:T p.(Tyr493=) NC_000002.12:97737661:C:T p.(Tyr493=) NC_000002.12:97737661:C:T Identity +NM_001160210.2:c.1452C>T NP_001153682.1:p.Tyr484= NC_000007.14:96146558:G:A p.(Tyr484=) NC_000007.14:96146558:G:A p.(Tyr484=) NC_000007.14:96146558:G:A Identity +NM_018026.4:c.915C>T NP_060496.2:p.Asp305= NC_000011.10:66216711:C:T p.(Asp305=) NC_000011.10:66216711:C:T p.(Asp305=) NC_000011.10:66216711:C:T Identity +NM_001324192.1:c.300T>G NP_001311121.1:p.Thr100= NC_000020.11:3889399:T:G p.(Thr100=) NC_000020.11:3889399:T:G p.(Thr100=) NC_000020.11:3889399:T:G Identity +NM_002872.5:c.567C>T NP_002863.1:p.Cys189= NC_000022.11:37226684:G:A p.(Cys189=) NC_000022.11:37226684:G:A p.(Cys189=) NC_000022.11:37226684:G:A Identity +NM_024656.4:c.501G>A NP_078932.2:p.Ala167= NC_000019.10:17567416:G:A p.(Ala167=) NC_000019.10:17567416:G:A p.(Ala167=) NC_000019.10:17567416:G:A Identity +NM_001378454.1:c.10311G>A NP_001365383.1:p.Glu3437= NC_000002.12:73559068:G:A p.(Glu3437=) NC_000002.12:73559068:G:A p.(Glu3437=) NC_000002.12:73559068:G:A Identity +NM_013334.4:c.1163G>A NP_037466.3:p.Ter388= NC_000003.12:49721752:C:T p.(Ter388=) NC_000003.12:49721752:C:T p.(Ter388Ter) NC_000003.12:49721752:C:T Identity +NM_012186.3:c.177G>C NP_036318.1:p.Pro59= NC_000001.11:47416491:G:C p.(Pro59=) NC_000001.11:47416491:G:C p.(Pro59=) NC_000001.11:47416491:G:C Identity +NM_003047.5:c.855C>T NP_003038.2:p.His285= NC_000001.11:27109735:G:A p.(His285=) NC_000001.11:27109735:G:A p.(His285=) NC_000001.11:27109735:G:A Identity +NM_175875.5:c.2145C>T NP_787071.3:p.Asp715= NC_000019.10:45765575:G:A p.(Asp715=) NC_000019.10:45765575:G:A p.(Asp715=) NC_000019.10:45765575:G:A Identity +NM_014510.3:c.1659A>G NP_055325.2:p.Gln553= NC_000007.14:83154981:T:C p.(Gln553=) NC_000007.14:83154981:T:C p.(Gln553=) NC_000007.14:83154981:T:C Identity +NM_001411025.1:c.6144G>A NP_001397954.1:p.Leu2048= NC_000011.10:66688760:C:T p.(Leu2048=) NC_000011.10:66688760:C:T p.(Leu2048=) NC_000011.10:66688760:C:T Identity +NM_003482.4:c.1557C>G NP_003473.3:p.Pro519= NC_000012.12:49052125:G:C p.(Pro519=) NC_000012.12:49052125:G:C p.(Pro519=) NC_000012.12:49052125:G:C Identity +NM_052945.4:c.22C>T NP_443177.1:p.Leu8= NC_000022.11:41926751:G:A p.(Leu8=) NC_000022.11:41926751:G:A p.(Leu8=) NC_000022.11:41926751:G:A Identity +NM_001083961.2:c.3813G>A NP_001077430.1:p.Ala1271= NC_000019.10:36103640:G:A p.(Ala1271=) NC_000019.10:36103640:G:A p.(Ala1271=) NC_000019.10:36103640:G:A Identity +NM_003764.4:c.630C>T NP_003755.2:p.Arg210= NC_000006.12:144187256:C:T p.(Arg210=) NC_000006.12:144187256:C:T p.(Arg210=) NC_000006.12:144187256:C:T Identity +NM_001127215.3:c.1098G>A NP_001120687.1:p.Lys366= NC_000001.11:92476199:C:T p.(Lys366=) NC_000001.11:92476199:C:T p.(Lys366=) NC_000001.11:92476199:C:T Identity +NM_014797.3:c.1908C>T NP_055612.2:p.His636= NC_000006.12:109466036:G:A p.(His636=) NC_000006.12:109466036:G:A p.(His636=) NC_000006.12:109466036:G:A Identity +NM_001144769.5:c.8913C>T NP_001138241.1:p.Leu2971= NC_000006.12:56553521:G:A p.(Leu2971=) NC_000006.12:56553521:G:A p.(Leu2971=) NC_000006.12:56553521:G:A Identity +NM_003482.4:c.8814G>A NP_003473.3:p.Pro2938= NC_000012.12:49038541:C:T p.(Pro2938=) NC_000012.12:49038541:C:T p.(Pro2938=) NC_000012.12:49038541:C:T Identity +NM_017780.4:c.3963A>C NP_060250.2:p.Ile1321= NC_000008.11:60836256:A:C p.(Ile1321=) NC_000008.11:60836256:A:C p.(Ile1321=) NC_000008.11:60836256:A:C Identity +NM_001006941.2:c.1110G>A NP_001006942.1:p.Leu370= NC_000003.12:184242576:C:T p.(Leu370=) NC_000003.12:184242576:C:T p.(Leu370=) NC_000003.12:184242576:C:T Identity +NM_000227.6:c.3366G>T NP_000218.3:p.Thr1122= NC_000018.10:23928137:G:T p.(Thr1122=) NC_000018.10:23928137:G:T p.(Thr1122=) NC_000018.10:23928137:G:T Identity +NM_000540.3:c.9030C>T NP_000531.2:p.Phe3010= NC_000019.10:38510688:C:T p.(Phe3010=) NC_000019.10:38510688:C:T p.(Phe3010=) NC_000019.10:38510688:C:T Identity +NM_000544.3:c.192A>G NP_000535.3:p.Thr64= NC_000006.12:32838041:T:C p.(Thr64=) NT_167244.2:4142907:T:C p.(Thr64=) NC_000006.12:4142907:T:C Identity +NM_001350626.2:c.1034_1051del NP_001337555.1:p.Ala345_Thr350del NC_000007.14:2541800:CCGTCGTGGCATCGTCTGCCGTC:CCGTC p.(Ala345_Thr350del) NC_000007.14:2541800:CCGTCGTGGCATCGTCTGCCGTC:CCGTC p.(Ala345_Thr350del) NC_000007.14:2541800:CCGTCGTGGCATCGTCTG: Identity +NM_001146702.2:c.2079G>A NP_001140174.1:p.Leu693= NC_000023.11:53198851:C:T p.(Leu693=) NC_000023.11:53198851:C:T p.(Leu693=) NC_000023.11:53198851:C:T Identity +NM_033071.5:c.7590G>A NP_149062.2:p.Gln2530= NC_000006.12:152395658:C:T p.(Gln2530=) NC_000006.12:152395658:C:T p.(Gln2530=) NC_000006.12:152395658:C:T Identity +NM_001999.4:c.5565C>T NP_001990.2:p.Ser1855= NC_000005.10:128305619:G:A p.(Ser1855=) NC_000005.10:128305619:G:A p.(Ser1855=) NC_000005.10:128305619:G:A Identity +NM_001003800.2:c.192C>T NP_001003800.1:p.Leu64= NC_000009.12:92764552:G:A p.(Leu64=) NC_000009.12:92764552:G:A p.(Leu64=) NC_000009.12:92764552:G:A Identity +NM_001411025.1:c.5271C>T NP_001397954.1:p.Arg1757= NC_000011.10:66691598:G:A p.(Arg1757=) NC_000011.10:66691598:G:A p.(Arg1757=) NC_000011.10:66691598:G:A Identity +NM_000350.3:c.1476C>T NP_000341.2:p.Asp492= NC_000001.11:94077767:G:A p.(Asp492=) NC_000001.11:94077767:G:A p.(Asp492=) NC_000001.11:94077767:G:A Identity +NM_004463.3:c.2761C>A NP_004454.2:p.Arg921= NC_000023.11:54446233:G:T p.(Arg921=) NC_000023.11:54446233:G:T p.(Arg921=) NC_000023.11:54446233:G:T Identity +NM_031935.3:c.15696C>T NP_114141.2:p.Asn5232= NC_000001.11:186172012:C:T p.(Asn5232=) NC_000001.11:186172012:C:T p.(Asn5232=) NC_000001.11:186172012:C:T Identity +NM_175737.4:c.2550G>C NP_783864.1:p.Leu850= NC_000004.12:39447275:G:C p.(Leu850=) NC_000004.12:39447275:G:C p.(Leu850=) NC_000004.12:39447275:G:C Identity +NM_000308.4:c.447C>T NP_000299.3:p.Val149= NC_000020.11:45892726:C:T p.(Val149=) NC_000020.11:45892726:C:T p.(Val149=) NC_000020.11:45892726:C:T Identity +NM_001040428.4:c.1449T>G NP_001035518.1:p.Leu483= NC_000014.9:88438166:T:G p.(Leu483=) NC_000014.9:88438166:T:G p.(Leu483=) NC_000014.9:88438166:T:G Identity +NM_000388.4:c.1758A>G NP_000379.3:p.Pro586= NC_000003.12:122283711:A:G p.(Pro586=) NC_000003.12:122283711:A:G p.(Pro586=) NC_000003.12:122283711:A:G Identity +NM_001134363.3:c.2532C>T NP_001127835.2:p.Asn844= NC_000010.11:110812928:C:T p.(Asn844=) NC_000010.11:110812928:C:T p.(Asn844=) NC_000010.11:110812928:C:T Identity +NM_000277.3:c.993T>C NP_000268.1:p.Phe331= NC_000012.12:102844407:A:G p.(Phe331=) NC_000012.12:102844407:A:G p.(Phe331=) NC_000012.12:102844407:A:G Identity +NM_001351527.2:c.7203C>T NP_001338456.1:p.Phe2401= NC_000009.12:132269698:G:A p.(Phe2401=) NC_000009.12:132269698:G:A p.(Phe2401=) NC_000009.12:132269698:G:A Identity +NM_003742.4:c.171T>C NP_003733.2:p.Thr57= NC_000002.12:169013489:A:G p.(Thr57=) NC_000002.12:169013489:A:G p.(Thr57=) NC_000002.12:169013489:A:G Identity +NM_001244580.2:c.4884G>A NP_001231509.1:p.Ser1628= NC_000007.14:98949532:G:A p.(Ser1628=) NC_000007.14:98949532:G:A p.(Ser1628=) NC_000007.14:98949532:G:A Identity +NM_003737.4:c.4557C>T NP_003728.1:p.Pro1519= NC_000011.10:6630236:G:A p.(Pro1519=) NC_000011.10:6630236:G:A p.(Pro1519=) NC_000011.10:6630236:G:A Identity +NM_001303110.2:c.822C>T NP_001290039.1:p.Val274= NC_000013.11:110206700:G:A p.(Val274=) NC_000013.11:110206700:G:A p.(Val274=) NC_000013.11:110206700:G:A Identity +NM_016035.5:c.489C>T NP_057119.3:p.His163= NC_000009.12:128332238:C:T p.(His163=) NC_000009.12:128332238:C:T p.(His163=) NC_000009.12:128332238:C:T Identity +NM_000135.4:c.1671G>A NP_000126.2:p.Val557= NC_000016.10:89779912:C:T p.(Val557=) NC_000016.10:89779912:C:T p.(Val557=) NC_000016.10:89779912:C:T Identity +NM_000747.3:c.504G>T NP_000738.2:p.Val168= NC_000017.11:7447543:G:T p.(Val168=) NC_000017.11:7447543:G:T p.(Val168=) NC_000017.11:7447543:G:T Identity +NM_001135649.3:c.1053C>T NP_001129121.1:p.Gly351= NC_000002.12:88448416:G:A p.(Gly351=) NC_000002.12:88448416:G:A p.(Gly351=) NC_000002.12:88448416:G:A Identity +NM_138694.4:c.5781A>G NP_619639.3:p.Arg1927= NC_000006.12:51959996:T:C p.(Arg1927=) NC_000006.12:51959996:T:C p.(Arg1927=) NC_000006.12:51959996:T:C Identity +NM_000199.5:c.1473C>T NP_000190.1:p.Leu491= NC_000017.11:80210487:G:A p.(Leu491=) NC_000017.11:80210487:G:A p.(Leu491=) NC_000017.11:80210487:G:A Identity +NM_001256849.1:c.693C>A NP_001243778.1:p.Ile231= NC_000019.10:50402307:C:A p.(Ile231=) NC_000019.10:50402307:C:A p.(Ile231=) NC_000019.10:50402307:C:A Identity +NM_001374839.1:c.819G>A NP_001361768.1:p.Leu273= NC_000008.11:144414309:C:T p.(Leu273=) NC_000008.11:144414309:C:T p.(Leu273=) NC_000008.11:144414309:C:T Identity +NM_020451.3:c.1674C>T NP_065184.2:p.Leu558= NC_000001.11:25815618:C:T p.(Leu558=) NC_000001.11:25815618:C:T p.? NC_000001.11:25815618:C:T Identity +NM_001394062.1:c.22437T>C NP_001380991.1:p.Pro7479= NC_000001.11:39485562:T:C p.(Pro7479=) NC_000001.11:39485562:T:C p.(Pro7479=) NC_000001.11:39485562:T:C Identity +NM_000111.3:c.513C>T NP_000102.1:p.Asp171= NC_000007.14:107791104:G:A p.(Asp171=) NC_000007.14:107791104:G:A p.(Asp171=) NC_000007.14:107791104:G:A Identity +NM_001330347.2:c.462A>C NP_001317276.1:p.Gly154= NC_000011.10:94478816:T:G p.(Gly154=) NC_000011.10:94478816:T:G p.(Gly154=) NC_000011.10:94478816:T:G Identity +NM_001031681.3:c.673C>T NP_001026851.2:p.Leu225= NC_000017.11:3656786:C:T p.(Leu225=) NC_000017.11:3656786:C:T p.(Leu225=) NC_000017.11:3656786:C:T Identity +NM_000243.3:c.384G>A NP_000234.1:p.Glu128= NC_000016.10:3254683:C:T p.(Glu128=) NC_000016.10:3254683:C:T p.(Glu128=) NC_000016.10:3254683:C:T Identity +NM_001256959.2:c.37_54del NP_001243888.2:p.Arg13_Cys18del NC_000001.11:11806285:GTGCTGCTGCTGCAGGTGGTGCTGCTGCTGC:GTGCTGCTGCTGC p.(Arg13_Cys18del) NC_000001.11:11806285:GTGCTGCTGCTGCAGGTGGTGCTGCTGCTGC:GTGCTGCTGCTGC p.(Arg13_Cys18del) NC_000001.11:11806298:AGGTGGTGCTGCTGCTGC: Identity +NM_001081676.2:c.594T>C NP_001075145.1:p.Ile198= NC_000002.12:165164399:A:G p.(Ile198=) NC_000002.12:165164399:A:G p.(Ile198=) NC_000002.12:165164399:A:G Identity +NM_001369906.1:c.180G>A NP_001356835.1:p.Arg60= NC_000022.11:23580010:C:T p.(Arg60=) NC_000022.11:23580010:C:T p.(Arg60=) NC_000022.11:23580010:C:T Identity +NM_022114.4:c.1023C>T NP_071397.3:p.Asn341= NC_000001.11:3404876:C:T p.(Asn341=) NC_000001.11:3404876:C:T p.(Asn341=) NC_000001.11:3404876:C:T Identity +NM_000540.3:c.11979C>T NP_000531.2:p.His3993= NC_000019.10:38543841:C:T p.(His3993=) NC_000019.10:38543841:C:T p.(His3993=) NC_000019.10:38543841:C:T Identity +NM_001378923.1:c.804T>C NP_001365852.1:p.Arg268= NC_000009.12:35794033:T:C p.(Arg268=) NC_000009.12:35794033:T:C p.(Arg268=) NC_000009.12:35794033:T:C Identity +NM_001278064.2:c.549C>T NP_001264993.1:p.Ile183= NC_000006.12:146030065:C:T p.(Ile183=) NC_000006.12:146030065:C:T p.(Ile183=) NC_000006.12:146030065:C:T Identity +NM_001207000.1:c.885C>T NP_001193929.1:p.Tyr295= NC_000004.12:82427453:G:A p.(Tyr295=) NC_000004.12:82427453:G:A p.(Tyr295=) NC_000004.12:82427453:G:A Identity +NM_001178129.2:c.1824C>T NP_001171600.1:p.Ile608= NC_000007.14:83367909:G:A p.(Ile608=) NC_000007.14:83367909:G:A p.(Ile608=) NC_000007.14:83367909:G:A Identity +NM_002506.3:c.262C>T NP_002497.2:p.Leu88= NC_000001.11:115286533:G:A p.(Leu88=) NC_000001.11:115286533:G:A p.(Leu88=) NC_000001.11:115286533:G:A Identity +NM_001605.3:c.481C>T NP_001596.2:p.Leu161= NC_000016.10:70271970:G:A p.(Leu161=) NC_000016.10:70271970:G:A p.(Leu161=) NC_000016.10:70271970:G:A Identity +NM_004863.4:c.933C>T NP_004854.1:p.Leu311= NC_000014.9:77557063:G:A p.(Leu311=) NC_000014.9:77557063:G:A p.(Leu311=) NC_000014.9:77557063:G:A Identity +NM_001112741.2:c.150G>C NP_001106212.1:p.Pro50= NC_000011.10:17736151:G:C p.(Pro50=) NC_000011.10:17736151:G:C p.(Pro50=) NC_000011.10:17736151:G:C Identity +NM_001256850.1:c.80664T>C NP_001243779.1:p.Asn26888= NC_000002.12:178560544:A:G p.(Asn26888=) NC_000002.12:178560544:A:G p.(Asn26888=) NC_000002.12:178560544:A:G Identity +NM_001127487.2:c.4716G>T NP_001120959.1:p.Gly1572= NC_000007.14:128848695:G:T p.(Gly1572=) NC_000007.14:128848695:G:T p.(Gly1572=) NC_000007.14:128848695:G:T Identity +NM_001849.4:c.2631G>A NP_001840.3:p.Val877= NC_000021.9:46132122:G:A p.(Val877=) NC_000021.9:46132122:G:A p.(Val877=) NC_000021.9:46132122:G:A Identity +NM_000218.3:c.1317A>G NP_000209.2:p.Thr439= NC_000011.10:2588777:A:G p.(Thr439=) NC_000011.10:2588777:A:G p.(Thr439=) NC_000011.10:2588777:A:G Identity +NM_000833.5:c.4042C>T NP_000824.1:p.Leu1348= NC_000016.10:9763501:G:A p.(Leu1348=) NC_000016.10:9763501:G:A p.(Leu1348=) NC_000016.10:9763501:G:A Identity +NM_000445.5:c.13077C>T NP_000436.2:p.Val4359= NC_000008.11:143916824:G:A p.(Val4359=) NC_000008.11:143916824:G:A p.(Val4359=) NC_000008.11:143916824:G:A Identity +NM_001395692.1:c.5106C>G NP_001382621.1:p.Pro1702= NC_000014.9:95095813:G:C p.(Pro1702=) NC_000014.9:95095813:G:C p.(Pro1702=) NC_000014.9:95095813:G:C Identity +NM_001321135.2:c.228C>T NP_001308064.1:p.Ser76= NC_000015.10:77025298:C:T p.(Ser76=) NC_000015.10:77025298:C:T p.(Ser76=) NC_000015.10:77025298:C:T Identity +NM_001206999.2:c.3048C>T NP_001193928.1:p.Leu1016= NC_000012.12:119735267:G:A p.(Leu1016=) NC_000012.12:119735267:G:A p.(Leu1016=) NC_000012.12:119735267:G:A Identity +NM_001164507.2:c.5619G>A NP_001157979.2:p.Val1873= NC_000002.12:151663691:C:T p.(Val1873=) NC_000002.12:151663691:C:T p.(Val1873=) NC_000002.12:151663691:C:T Identity +NM_000489.6:c.1080T>C NP_000480.3:p.Ile360= NC_000023.11:77684175:A:G p.(Ile360=) NC_000023.11:77684175:A:G p.(Ile360=) NC_000023.11:77684175:A:G Identity +NM_001206855.3:c.1402C>T NP_001193784.1:p.Leu468= NC_000007.14:100627343:G:A p.(Leu468=) NC_000007.14:100627343:G:A p.(Leu468=) NC_000007.14:100627343:G:A Identity +NM_000875.5:c.492G>T NP_000866.1:p.Val164= NC_000015.10:98707958:G:T p.(Val164=) NC_000015.10:98707958:G:T p.(Val164=) NC_000015.10:98707958:G:T Identity +NM_002299.4:c.3363G>A NP_002290.2:p.Ser1121= NC_000002.12:135808983:C:T p.(Ser1121=) NC_000002.12:135808983:C:T p.(Ser1121=) NC_000002.12:135808983:C:T Identity +NM_000083.3:c.2328G>T NP_000074.3:p.Leu776= NC_000007.14:143346621:G:T p.(Leu776=) NC_000007.14:143346621:G:T p.(Leu776=) NC_000007.14:143346621:G:T Identity +NM_001377456.1:c.2005T>C NP_001364385.1:p.Leu669= NC_000016.10:56485643:A:G p.(Leu669=) NC_000016.10:56485643:A:G p.(Leu669=) NC_000016.10:56485643:A:G Identity +NM_001453.3:c.1458G>C NP_001444.2:p.Ala486= NC_000006.12:1611902:G:C p.(Ala486=) NC_000006.12:1611902:G:C p.(Ala486=) NC_000006.12:1611902:G:C Identity +NM_001244580.2:c.2436C>T NP_001231509.1:p.Thr812= NC_000007.14:98917492:C:T p.(Thr812=) NC_000007.14:98917492:C:T p.(Thr812=) NC_000007.14:98917492:C:T Identity +NM_001386339.1:c.636C>T NP_001373268.1:p.Leu212= NC_000011.10:10002672:G:A p.(Leu212=) NC_000011.10:10002672:G:A p.(Leu212=) NC_000011.10:10002672:G:A Identity +NM_001023.4:c.141_146del NP_001014.1:p.Asn47_Leu48del NC_000008.11:56073725:TTGAGATT:TT p.(Asn47_Leu48del) NC_000008.11:56073725:TTGAGATT:TT p.(Asn47_Leu48del) NC_000008.11:56073725:TTGAGA: Identity +NM_001044.5:c.132C>T NP_001035.1:p.Ser44= NC_000005.10:1443065:G:A p.(Ser44=) NC_000005.10:1443065:G:A p.(Ser44=) NC_000005.10:1443065:G:A Identity +NM_001145661.2:c.1146T>A NP_001139133.1:p.Val382= NC_000003.12:128481315:A:T p.(Val382=) NC_000003.12:128481315:A:T p.(Val382=) NC_000003.12:128481315:A:T Identity +NM_001161520.2:c.93C>T NP_001154992.2:p.Asp31= NC_000007.14:107563803:G:A p.(Asp31=) NC_000007.14:107563803:G:A p.(Asp31=) NC_000007.14:107563803:G:A Identity +NM_004501.3:c.60C>G NP_004492.2:p.Leu20= NC_000001.11:244864247:G:C p.(Leu20=) NC_000001.11:244864247:G:C p.(Leu20=) NC_000001.11:244864247:G:C Identity +NM_001130455.2:c.669C>T NP_001123927.1:p.Ile223= NC_000002.12:71515624:C:T p.(Ile223=) NC_000002.12:71515624:C:T p.(Ile223=) NC_000002.12:71515624:C:T Identity +NM_001286414.3:c.1164T>C NP_001273343.1:p.Thr388= NC_000015.10:43395680:T:C p.(Thr388=) NC_000015.10:43395680:T:C p.(Thr388=) NC_000015.10:43395680:T:C Identity +NM_003240.5:c.357G>T NP_003231.2:p.Arg119= NC_000001.11:225939895:C:A p.(Arg119=) NC_000001.11:225939895:C:A p.(Arg119=) NC_000001.11:225939895:C:A Identity +NM_001127207.2:c.768G>A NP_001120679.1:p.Ala256= NC_000002.12:216415471:G:A p.(Ala256=) NC_000002.12:216415471:G:A p.(Ala256=) NC_000002.12:216415471:G:A Identity +NM_000233.4:c.114C>G NP_000224.2:p.Pro38= NC_000002.12:48755557:G:C p.(Pro38=) NC_000002.12:48755557:G:C p.(Pro38=) NC_000002.12:48755557:G:C Identity +NM_001410876.1:c.1258C>T NP_001397805.1:p.Leu420= NC_000006.12:35459701:C:T p.(Leu420=) NC_000006.12:35459701:C:T p.(Leu420=) NC_000006.12:35459701:C:T Identity +NM_001172631.3:c.1617G>A NP_001166102.1:p.Gln539= NC_000014.9:102434433:G:A p.(Gln539=) NC_000014.9:102434433:G:A p.(Gln539=) NC_000014.9:102434433:G:A Identity +NM_000082.4:c.657A>G NP_000073.1:p.Ala219= NC_000005.10:60899687:T:C p.(Ala219=) NC_000005.10:60899687:T:C p.(Ala219=) NC_000005.10:60899687:T:C Identity +NM_001690.4:c.1260A>G NP_001681.2:p.Pro420= NC_000003.12:113795908:A:G p.(Pro420=) NC_000003.12:113795908:A:G p.(Pro420=) NC_000003.12:113795908:A:G Identity +NM_001379500.1:c.765C>T NP_001366429.1:p.Leu255= NC_000021.9:45475501:C:T p.(Leu255=) NC_000021.9:45475501:C:T p.(Leu255=) NC_000021.9:45475501:C:T Identity +NM_001142298.2:c.1065G>A NP_001135770.1:p.Pro355= NC_000005.10:179836586:G:A p.(Pro355=) NC_000005.10:179836586:G:A p.(Pro355=) NC_000005.10:179836586:G:A Identity +NM_001006657.2:c.1101A>G NP_001006658.1:p.Glu367= NC_000002.12:19966816:T:C p.(Glu367=) NC_000002.12:19966816:T:C p.(Glu367=) NC_000002.12:19966816:T:C Identity +NM_000379.4:c.156A>G NP_000370.2:p.Thr52= NC_000002.12:31403088:T:C p.(Thr52=) NC_000002.12:31403088:T:C p.(Thr52=) NC_000002.12:31403088:T:C Identity +NM_001130144.3:c.3720C>T NP_001123616.1:p.Pro1240= NC_000011.10:65539367:G:A p.(Pro1240=) NC_000011.10:65539367:G:A p.(Pro1240=) NC_000011.10:65539367:G:A Identity +NM_001280787.1:c.303A>G NP_001267716.1:p.Thr101= NC_000009.12:133352566:T:C p.(Thr101=) NC_000009.12:133352566:T:C p.(Thr101=) NC_000009.12:133352566:T:C Identity +NM_001136191.3:c.2379C>T NP_001129663.1:p.Ala793= NC_000019.10:11170080:G:A p.(Ala793=) NC_000019.10:11170080:G:A p.(Ala793=) NC_000019.10:11170080:G:A Identity +NM_020457.3:c.321_326dup NP_065190.2:p.Gln132_Ser133insGlnGln NC_000016.10:67842869:CAGCAACAGCA:CAGCAACAGCAACAGCA p.(Gln131_Gln132dup) NC_000016.10:67842869:CAGCAACAGCA:CAGCAACAGCAACAGCA p.(Gln131_Gln132dup) ERR:SPDI Analogous +NM_001024732.4:c.252C>T NP_001019903.3:p.Ser84= NC_000001.11:29206831:G:A p.(Ser84=) NC_000001.11:29206831:G:A p.(Ser84=) NC_000001.11:29206831:G:A Identity +NM_000124.4:c.1509G>T NP_000115.1:p.Leu503= NC_000010.11:49505900:C:A p.(Leu503=) NC_000010.11:49505900:C:A p.(Leu503=) NC_000010.11:49505900:C:A Identity +NM_001035.3:c.7896T>C NP_001026.2:p.Ala2632= NC_000001.11:237654344:T:C p.(Ala2632=) NC_000001.11:237654344:T:C p.(Ala2632=) NC_000001.11:237654344:T:C Identity +NM_001127207.2:c.1065G>T NP_001120679.1:p.Ala355= NC_000002.12:216420500:G:T p.(Ala355=) NC_000002.12:216420500:G:T p.(Ala355=) NC_000002.12:216420500:G:T Identity +NM_001130965.3:c.2127C>T NP_001124437.1:p.Ala709= NC_000007.14:869494:C:T p.(Ala709=) NC_000007.14:869494:C:T p.(Ala709=) NC_000007.14:869494:C:T Identity +NM_000272.5:c.1974T>C NP_000263.2:p.His658= NC_000002.12:110124018:A:G p.(His658=) NC_000002.12:110124018:A:G p.(His658=) NC_000002.12:110124018:A:G Identity +NM_001031717.4:c.1107T>G NP_001026887.2:p.Gly369= NC_000003.12:9943959:T:G p.(Gly369=) NC_000003.12:9943959:T:G p.(Gly369=) NC_000003.12:9943959:T:G Identity +NM_001256007.3:c.48T>C NP_001242936.1:p.Asn16= NC_000007.14:108515443:A:G p.(Asn16=) NC_000007.14:108515443:A:G p.(Asn16=) NC_000007.14:108515443:A:G Identity +NM_001267578.2:c.93G>C NP_001254507.1:p.Arg31= NC_000001.11:179882594:G:C p.(Arg31=) NC_000001.11:179882594:G:C p.(Arg31=) NC_000001.11:179882594:G:C Identity +NM_001166136.2:c.258A>T NP_001159608.1:p.Val86= NC_000004.12:5691285:T:A p.(Val86=) NC_000004.12:5691285:T:A p.(Val86=) NC_000004.12:5691285:T:A Identity +NM_001098175.2:c.1365C>T NP_001091645.1:p.Ala455= NC_000010.11:95866193:C:T p.(Ala455=) NC_000010.11:95866193:C:T p.(Ala455=) NC_000010.11:95866193:C:T Identity +NM_001411087.1:c.417C>T NP_001398016.1:p.Tyr139= NC_000019.10:45012197:C:T p.(Tyr139=) NC_000019.10:45012197:C:T p.(Tyr139=) NC_000019.10:45012197:C:T Identity +NM_001105243.2:c.567A>G NP_001098713.1:p.Glu189= NC_000023.11:100408030:T:C p.(Glu189=) NC_000023.11:100408030:T:C p.(Glu189=) NC_000023.11:100408030:T:C Identity +NM_001148.6:c.4998T>C NP_001139.3:p.Cys1666= NC_000004.12:113353615:T:C p.(Cys1666=) NC_000004.12:113353615:T:C p.(Cys1666=) NC_000004.12:113353615:T:C Identity +NM_173500.4:c.1482C>T NP_775771.3:p.Cys494= NC_000015.10:42775650:G:A p.(Cys494=) NC_000015.10:42775650:G:A p.(Cys494=) NC_000015.10:42775650:G:A Identity +NM_001286167.3:c.834T>C NP_001273096.1:p.Leu278= NC_000016.10:89799224:A:G p.(Leu278=) NC_000016.10:89799224:A:G p.(Leu278=) NC_000016.10:89799224:A:G Identity +NM_015243.3:c.1554T>C NP_056058.2:p.Thr518= NC_000008.11:99135723:T:C p.(Thr518=) NC_000008.11:99135723:T:C p.(Thr518=) NC_000008.11:99135723:T:C Identity +NM_001201543.2:c.1644G>A NP_001188472.1:p.Gln548= NC_000002.12:61838644:C:T p.(Gln548=) NC_000002.12:61838644:C:T p.(Gln548=) NC_000002.12:61838644:C:T Identity +NM_000489.6:c.951A>G NP_000480.3:p.Pro317= NC_000023.11:77684304:T:C p.(Pro317=) NC_000023.11:77684304:T:C p.(Pro317=) NC_000023.11:77684304:T:C Identity +NM_152383.5:c.2151C>A NP_689596.4:p.Ala717= NC_000002.12:232333979:C:A p.(Ala717=) NC_000002.12:232333979:C:A p.(Ala717=) NC_000002.12:232333979:C:A Identity +NM_172201.2:c.301T>C NP_751951.1:p.Leu101= NC_000021.9:34370778:T:C p.(Leu101=) NC_000021.9:34370778:T:C p.(Leu101=) NC_000021.9:34370778:T:C Identity +NM_001310332.2:c.1572G>A NP_001297261.1:p.Leu524= NC_000014.9:24151886:G:A p.(Leu524=) NC_000014.9:24151886:G:A p.(Leu524=) NC_000014.9:24151886:G:A Identity +NM_000532.5:c.1587T>C NP_000523.2:p.Arg529= NC_000003.12:136329992:T:C p.(Arg529=) NC_000003.12:136329992:T:C p.(Arg529=) NC_000003.12:136329992:T:C Identity +NM_001164507.2:c.10425A>T NP_001157979.2:p.Ala3475= NC_000002.12:151625560:T:A p.(Ala3475=) NC_000002.12:151625560:T:A p.(Ala3475=) NC_000002.12:151625560:T:A Identity +NM_001144881.2:c.2406A>G NP_001138353.1:p.Pro802= NC_000012.12:42459898:T:C p.(Pro802=) NC_000012.12:42459898:T:C p.(Pro802=) NC_000012.12:42459898:T:C Identity +NM_001172644.2:c.81A>G NP_001166115.1:p.Ser27= NC_000016.10:66549980:T:C p.(Ser27=) NC_000016.10:66549980:T:C p.(Ser27=) NC_000016.10:66549980:T:C Identity +NM_001172417.1:c.681C>T NP_001165888.1:p.Ser227= NC_000002.12:232768352:G:A p.(Ser227=) NC_000002.12:232768352:G:A p.(Ser227=) NC_000002.12:232768352:G:A Identity +NM_000153.4:c.792G>A NP_000144.2:p.Lys264= NC_000014.9:87968450:C:T p.(Lys264=) NC_000014.9:87968450:C:T p.(Lys264=) NC_000014.9:87968450:C:T Identity +NM_001379141.1:c.2202G>A NP_001366070.1:p.Glu734= NC_000018.10:44951541:G:A p.(Glu734=) NC_000018.10:44951541:G:A p.(Glu734=) NC_000018.10:44951541:G:A Identity +NM_001256267.2:c.1161T>A NP_001243196.1:p.Pro387= NC_000010.11:68148382:T:A p.(Pro387=) NC_000010.11:68148382:T:A p.(Pro387=) NC_000010.11:68148382:T:A Identity +NM_012318.3:c.777G>A NP_036450.1:p.Glu259= NC_000004.12:1834943:C:T p.(Glu259=) NC_000004.12:1834943:C:T p.(Glu259=) NC_000004.12:1834943:C:T Identity +NM_001127208.3:c.2736G>A NP_001120680.1:p.Ala912= NC_000004.12:105236677:G:A p.(Ala912=) NC_000004.12:105236677:G:A p.(Ala912=) NC_000004.12:105236677:G:A Identity +NM_001166292.2:c.732C>T NP_001159764.1:p.Gly244= NC_000001.11:44830928:G:A p.(Gly244=) NC_000001.11:44830928:G:A p.(Gly244=) NC_000001.11:44830928:G:A Identity +NM_015192.4:c.2076A>G NP_056007.1:p.Lys692= NC_000020.11:8737059:A:G p.(Lys692=) NC_000020.11:8737059:A:G p.(Lys692=) NC_000020.11:8737059:A:G Identity +NM_000445.5:c.2451C>T NP_000436.2:p.Ala817= NC_000008.11:143930470:G:A p.(Ala817=) NC_000008.11:143930470:G:A p.(Ala817=) NC_000008.11:143930470:G:A Identity +NM_002185.5:c.1242G>A NP_002176.2:p.Thr414= NC_000005.10:35876347:G:A p.(Thr414=) NC_000005.10:35876347:G:A p.(Thr414=) NC_000005.10:35876347:G:A Identity +NM_004218.4:c.339A>G NP_004209.2:p.Ala113= NC_000019.10:8402187:A:G p.(Ala113=) NC_000019.10:8402187:A:G p.(Ala113=) NC_000019.10:8402187:A:G Identity +NM_001845.6:c.2136T>A NP_001836.3:p.Thr712= NC_000013.11:110181348:A:T p.(Thr712=) NC_000013.11:110181348:A:T p.(Thr712=) NC_000013.11:110181348:A:T Identity +NM_000156.6:c.66G>T NP_000147.1:p.Ala22= NC_000019.10:1401410:C:A p.(Ala22=) NC_000019.10:1401410:C:A p.(Ala22=) NC_000019.10:1401410:C:A Identity +NM_001098512.3:c.720C>G NP_001091982.1:p.Thr240= NC_000010.11:52054485:C:G p.(Thr240=) NC_000010.11:52054485:C:G p.(Thr240=) NC_000010.11:52054485:C:G Identity +NM_001174089.2:c.1116G>A NP_001167560.1:p.Leu372= NC_000020.11:3230984:C:T p.(Leu372=) NC_000020.11:3230984:C:T p.(Leu372=) NC_000020.11:3230984:C:T Identity +NM_020366.4:c.111C>A NP_065099.3:p.Pro37= NC_000014.9:21294701:C:A p.(Pro37=) NC_000014.9:21294701:C:A p.(Pro37=) NC_000014.9:21294701:C:A Identity +NM_021978.4:c.36C>T NP_068813.1:p.Gly12= NC_000011.10:130160014:C:T p.(Gly12=) NC_000011.10:130160014:C:T p.(Gly12=) NC_000011.10:130160014:C:T Identity +NM_001316690.1:c.498_506del NP_001303619.1:p.167PQP[1] NC_000008.11:60741929:GCCGCAGCC: p.(Pro170_Pro172del) NC_000008.11:60741929:GCCGCAGCC: p.(Pro170_Pro172del) NC_000008.11:60741929:GCCGCAGCC: Analogous +NM_001365536.1:c.2661C>G NP_001352465.1:p.Leu887= NC_000002.12:166277195:G:C p.(Leu887=) NC_000002.12:166277195:G:C p.(Leu887=) NC_000002.12:166277195:G:C Identity +NM_001256850.1:c.75402G>A NP_001243779.1:p.Val25134= NC_000002.12:178565806:C:T p.(Val25134=) NC_000002.12:178565806:C:T p.(Val25134=) NC_000002.12:178565806:C:T Identity +NM_001080115.2:c.954C>T NP_001073584.1:p.His318= NC_000010.11:86699334:C:T p.(His318=) NC_000010.11:86699334:C:T p.(His318=) NC_000010.11:86699334:C:T Identity +NM_020338.4:c.2202G>A NP_065071.1:p.Thr734= NC_000010.11:79304090:G:A p.(Thr734=) NC_000010.11:79304090:G:A p.(Thr734=) NC_000010.11:79304090:G:A Identity +NM_000287.4:c.2862T>G NP_000278.3:p.Ala954= NC_000006.12:42964415:A:C p.(Ala954=) NC_000006.12:42964415:A:C p.(Ala954=) NC_000006.12:42964415:A:C Identity +NM_000593.6:c.1911C>T NP_000584.3:p.Asp637= NC_000006.12:32847196:G:A p.(Asp637=) NC_000006.12:32847196:G:A p.(Asp637=) NC_000006.12:32847196:G:A Identity +NM_016148.5:c.3004CAC[11] NP_057232.2:p.His1007_Ala1008insHisHisHisHisHis NC_000019.10:50668938:GTGGTGGTGGTGGTGGTGG:GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG p.(His1003_His1007dup) NC_000019.10:50668955:G:GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ERR:Parse ERR:Parse Analogous +NM_001099922.3:c.2766A>G NP_001093392.1:p.Pro922= NC_000023.11:111744737:A:G p.(Pro922=) NC_000023.11:111744737:A:G p.(Pro922=) NC_000023.11:111744737:A:G Identity +NM_001017980.4:c.231T>C NP_001017980.1:p.His77= NC_000023.11:151404982:T:C p.(His77=) NC_000023.11:151404982:T:C p.(His77=) NC_000023.11:151404982:T:C Identity +NM_001411127.1:c.2235C>G NP_001398056.1:p.Pro745= NC_000019.10:40396401:G:C p.(Pro745=) NC_000019.10:40396401:G:C p.(Pro745=) NC_000019.10:40396401:G:C Identity +NM_001145853.1:c.336G>A NP_001139325.1:p.Gln112= NC_000004.12:6289006:G:A p.(Gln112=) NC_000004.12:6289006:G:A p.(Gln112=) NC_000004.12:6289006:G:A Identity +NM_000273.3:c.348C>T NP_000264.2:p.Cys116= NC_000023.11:9760728:G:A p.(Cys116=) NC_000023.11:9760728:G:A p.(Cys116=) NC_000023.11:9760728:G:A Identity +NM_001001557.4:c.549G>T NP_001001557.1:p.Pro183= NC_000008.11:96145381:C:A p.(Pro183=) NC_000008.11:96145381:C:A p.(Pro183=) NC_000008.11:96145381:C:A Identity +NM_199242.3:c.1353C>T NP_954712.1:p.Thr451= NC_000017.11:75836374:G:A p.(Thr451=) NC_000017.11:75836374:G:A p.(Thr451=) NC_000017.11:75836374:G:A Identity +NM_025179.4:c.4980C>T NP_079455.3:p.His1660= NC_000001.11:208033393:G:A p.(His1660=) NC_000001.11:208033393:G:A p.(His1660=) NC_000001.11:208033393:G:A Identity +NM_173689.7:c.3579G>A NP_775960.4:p.Gly1193= NC_000009.12:123375288:G:A p.(Gly1193=) NC_000009.12:123375288:G:A p.(Gly1193=) NC_000009.12:123375288:G:A Identity +NM_001243254.2:c.603C>G NP_001230183.1:p.Leu201= NC_000011.10:9204005:G:C p.(Leu201=) NC_000011.10:9204005:G:C p.(Leu201=) NC_000011.10:9204005:G:C Identity +NM_000322.5:c.624C>T NP_000313.2:p.Gly208= NC_000006.12:42704568:G:A p.(Gly208=) NC_000006.12:42704568:G:A p.(Gly208=) NC_000006.12:42704568:G:A Identity +NM_000540.3:c.13479C>G NP_000531.2:p.Pro4493= NC_000019.10:38566951:C:G p.(Pro4493=) NC_000019.10:38566951:C:G p.(Pro4493=) NC_000019.10:38566951:C:G Identity +NM_001303110.2:c.876T>C NP_001290039.1:p.Asp292= NC_000013.11:110205520:A:G p.(Asp292=) NC_000013.11:110205520:A:G p.(Asp292=) NC_000013.11:110205520:A:G Identity +NM_000445.5:c.7605C>T NP_000436.2:p.Phe2535= NC_000008.11:143922296:G:A p.(Phe2535=) NC_000008.11:143922296:G:A p.(Phe2535=) NC_000008.11:143922296:G:A Identity +NM_001289102.2:c.12GCT[6] NP_001276031.1:p.Leu9_Pro10insLeu NC_000019.10:11436128:GCTGCTGCTGCTGCT:GCTGCTGCTGCTGCTGCT p.(Leu9dup) NC_000019.10:11436128:G:GCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Analogous +NM_001128431.4:c.1008G>A NP_001121903.1:p.Leu336= NC_000008.11:22416140:G:A p.(Leu336=) NC_000008.11:22416140:G:A p.(Leu336=) NC_000008.11:22416140:G:A Identity +NM_000445.5:c.9978G>T NP_000436.2:p.Arg3326= NC_000008.11:143919923:C:A p.(Arg3326=) NC_000008.11:143919923:C:A p.(Arg3326=) NC_000008.11:143919923:C:A Identity +NM_001244580.2:c.1218C>T NP_001231509.1:p.Ile406= NC_000007.14:98908829:C:T p.(Ile406=) NC_000007.14:98908829:C:T p.(Ile406=) NC_000007.14:98908829:C:T Identity +NM_020921.4:c.3360G>A NP_065972.4:p.Ala1120= NC_000014.9:50757669:C:T p.(Ala1120=) NC_000014.9:50757669:C:T p.(Ala1120=) NC_000014.9:50757669:C:T Identity +NM_000064.4:c.4083C>T NP_000055.2:p.Phe1361= NC_000019.10:6684596:G:A p.(Phe1361=) NC_000019.10:6684596:G:A p.(Phe1361=) NC_000019.10:6684596:G:A Identity +NM_005751.5:c.5202C>T NP_005742.4:p.Ile1734= NC_000007.14:92045046:C:T p.(Ile1734=) NC_000007.14:92045046:C:T p.(Ile1734=) NC_000007.14:92045046:C:T Identity +NM_000204.5:c.510G>A NP_000195.3:p.Lys170= NC_000004.12:109761664:C:T p.(Lys170=) NC_000004.12:109761664:C:T p.(Lys170=) NC_000004.12:109761664:C:T Identity +NM_014510.3:c.1489_1518del NP_055325.2:p.Ala497_Ser506del NC_000007.14:83155122:TGAGCCAGGCTGTTGAGATGGGGGCTTTGCTGAGCCAGGCTGTTGAG:TGAGCCAGGCTGTTGAG p.(Ala497_Ser506del) NC_000007.14:83155122:TGAGCCAGGCTGTTGAGATGGGGGCTTTGCTGAGCCAGGCTGTTGAG:TGAGCCAGGCTGTTGAG p.(Ala497_Ser506del) NC_000007.14:83155122:TGAGCCAGGCTGTTGAGATGGGGGCTTTGC: Identity +NM_001362884.2:c.726G>A NP_001349813.1:p.Ser242= NC_000008.11:20253204:C:T p.(Ser242=) NC_000008.11:20253204:C:T p.(Ser242=) NC_000008.11:20253204:C:T Identity +NM_147127.5:c.198G>T NP_667338.3:p.Arg66= NC_000004.12:5708315:C:A p.(Arg66=) NC_000004.12:5708315:C:A p.(Arg66=) NC_000004.12:5708315:C:A Identity +NM_000308.4:c.1035C>T NP_000299.3:p.Tyr345= NC_000020.11:45895079:C:T p.(Tyr345=) NC_000020.11:45895079:C:T p.(Tyr345=) NC_000020.11:45895079:C:T Identity +NM_002204.4:c.1404C>T NP_002195.1:p.Ile468= NC_000017.11:50074468:C:T p.(Ile468=) NC_000017.11:50074468:C:T p.(Ile468=) NC_000017.11:50074468:C:T Identity +NM_001252043.2:c.1566A>C NP_001238972.1:p.Ala522= NC_000016.10:29985355:A:C p.(Ala522=) NC_000016.10:29985355:A:C p.(Ala522=) NC_000016.10:29985355:A:C Identity +NM_018136.5:c.8643A>G NP_060606.3:p.Leu2881= NC_000001.11:197100607:T:C p.(Leu2881=) NC_000001.11:197100607:T:C p.(Leu2881=) NC_000001.11:197100607:T:C Identity +NM_000429.3:c.720C>T NP_000420.1:p.Thr240= NC_000010.11:80276423:G:A p.(Thr240=) NC_000010.11:80276423:G:A p.(Thr240=) NC_000010.11:80276423:G:A Identity +NM_002283.4:c.267A>G NP_002274.1:p.Gly89= NC_000012.12:52367138:T:C p.(Gly89=) NC_000012.12:52367138:T:C p.(Gly89=) NC_000012.12:52367138:T:C Identity +NM_014244.5:c.253C>A NP_055059.2:p.Arg85= NC_000005.10:179344047:G:T p.(Arg85=) NC_000005.10:179344047:G:T p.(Arg85=) NC_000005.10:179344047:G:T Identity +NM_000135.4:c.1413C>A NP_000126.2:p.Val471= NC_000016.10:89784910:G:T p.(Val471=) NC_000016.10:89784910:G:T p.(Val471=) NC_000016.10:89784910:G:T Identity +NM_207361.6:c.4584T>C NP_997244.4:p.Asp1528= NC_000013.11:38691927:T:C p.(Asp1528=) NC_000013.11:38691927:T:C p.(Asp1528=) NC_000013.11:38691927:T:C Identity +NM_001304478.1:c.99C>T NP_001291407.1:p.Thr33= NC_000008.11:22046172:C:T p.(Thr33=) NC_000008.11:22046172:C:T p.(Thr33=) NC_000008.11:22046172:C:T Identity +NM_001287424.2:c.138G>A NP_001274353.1:p.Pro46= NC_000019.10:33302381:C:T p.(Pro46=) NC_000019.10:33302381:C:T p.(Pro46=) NC_000019.10:33302381:C:T Identity +NM_001283009.2:c.387C>G NP_001269938.1:p.Thr129= NC_000020.11:63661934:C:G p.(Thr129=) NC_000020.11:63661934:C:G p.(Thr129=) NC_000020.11:63661934:C:G Identity +NM_001122633.3:c.879C>T NP_001116105.2:p.Ile293= NC_000002.12:210590837:C:T p.(Ile293=) NC_000002.12:210590837:C:T p.(Ile293=) NC_000002.12:210590837:C:T Identity +NM_001127487.2:c.1365G>A NP_001120959.1:p.Ala455= NC_000007.14:128838756:G:A p.(Ala455=) NC_000007.14:128838756:G:A p.(Ala455=) NC_000007.14:128838756:G:A Identity +NM_001008844.3:c.4293T>A NP_001008844.1:p.Ser1431= NC_000006.12:7583351:T:A p.(Ser1431=) NC_000006.12:7583351:T:A p.(Ser1431=) NC_000006.12:7583351:T:A Identity +NM_145290.4:c.2130C>T NP_660333.2:p.Asn710= NC_000004.12:22413283:G:A p.(Asn710=) NC_000004.12:22413283:G:A p.(Asn710=) NC_000004.12:22413283:G:A Identity +NM_001136493.3:c.1188T>C NP_001129965.1:p.Ile396= NC_000001.11:39967856:T:C p.(Ile396=) NC_000001.11:39967856:T:C p.(Ile396=) NC_000001.11:39967856:T:C Identity +NM_001164507.2:c.3546C>T NP_001157979.2:p.Asn1182= NC_000002.12:151677896:G:A p.(Asn1182=) NC_000002.12:151677896:G:A p.(Asn1182=) NC_000002.12:151677896:G:A Identity +NM_001114094.2:c.1126C>A NP_001107566.1:p.Arg376= NC_000010.11:96196963:G:T p.(Arg376=) NC_000010.11:96196963:G:T p.(Arg376=) NC_000010.11:96196963:G:T Identity +NM_006734.4:c.3474C>A NP_006725.3:p.Ile1158= NC_000006.12:142771264:G:T p.(Ile1158=) NC_000006.12:142771264:G:T p.(Ile1158=) NC_000006.12:142771264:G:T Identity +NM_014510.3:c.3699G>A NP_055325.2:p.Lys1233= NC_000007.14:82966088:C:T p.(Lys1233=) NC_000007.14:82966088:C:T p.(Lys1233=) NC_000007.14:82966088:C:T Identity +NM_001142966.3:c.1578G>A NP_001136438.1:p.Val526= NC_000018.10:21449693:G:A p.(Val526=) NC_000018.10:21449693:G:A p.(Val526=) NC_000018.10:21449693:G:A Identity +NM_001348729.2:c.1467A>C NP_001335658.1:p.Gly489= NC_000002.12:8790036:T:G p.(Gly489=) NC_000002.12:8790036:T:G p.(Gly489=) NC_000002.12:8790036:T:G Identity +NM_000377.3:c.283C>T NP_000368.1:p.Leu95= NC_000023.11:48685555:C:T p.(Leu95=) NC_000023.11:48685555:C:T p.(Leu95=) NC_000023.11:48685555:C:T Identity +NM_001358921.2:c.432A>G NP_001345850.1:p.Thr144= NC_000004.12:83273605:T:C p.(Thr144=) NC_000004.12:83273605:T:C p.(Thr144=) NC_000004.12:83273605:T:C Identity +NM_052844.4:c.21G>C NP_443076.2:p.Pro7= NC_000009.12:128656705:C:G p.(Pro7=) NC_000009.12:128656705:C:G p.(Pro7=) NC_000009.12:128656705:C:G Identity +NM_015295.3:c.5409C>T NP_056110.2:p.Pro1803= NC_000018.10:2777847:C:T p.(Pro1803=) NC_000018.10:2777847:C:T p.(Pro1803=) NC_000018.10:2777847:C:T Identity +NM_001193465.2:c.1962G>A NP_001180394.1:p.Leu654= NC_000017.11:46050590:C:T p.(Leu654=) NC_000017.11:46050590:C:T p.(Leu654=) NC_000017.11:46050590:C:T Identity +NM_033118.4:c.1080G>A NP_149109.1:p.Glu360= NC_000020.11:31826711:G:A p.(Glu360=) NC_000020.11:31826711:G:A p.(Glu360=) NC_000020.11:31826711:G:A Identity +NM_001164317.2:c.6645C>T NP_001157789.1:p.Thr2215= NC_000003.12:58153558:C:T p.(Thr2215=) NC_000003.12:58153558:C:T p.(Thr2215=) NC_000003.12:58153558:C:T Identity +NM_001184891.2:c.816C>T NP_001171820.1:p.Leu272= NC_000001.11:154988838:C:T p.(Leu272=) NC_000001.11:154988838:C:T p.(Leu272=) NC_000001.11:154988838:C:T Identity +NM_000522.5:c.294G>T NP_000513.2:p.Ala98= NC_000007.14:27199783:C:A p.(Ala98=) NC_000007.14:27199783:C:A p.(Ala98=) NC_000007.14:27199783:C:A Identity +NM_001372305.1:c.306G>A NP_001359234.1:p.Glu102= NC_000019.10:50328548:C:T p.(Glu102=) NC_000019.10:50328548:C:T p.(Glu102=) NC_000019.10:50328548:C:T Identity +NM_001168249.1:c.2352T>C NP_001161721.1:p.Pro784= NC_000001.11:102978868:A:G ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001256468.2:c.2703G>A NP_001243397.1:p.Glu901= NC_000010.11:75022110:G:A p.(Glu901=) NC_000010.11:75022110:G:A p.(Glu901=) NC_000010.11:75022110:G:A Identity +NM_001322404.2:c.99C>T NP_001309333.1:p.Ile33= NC_000011.10:86306312:C:T p.(Ile33=) NC_000011.10:86306312:C:T p.(Ile33=) NC_000011.10:86306312:C:T Identity +NM_007055.4:c.2583G>A NP_008986.2:p.Thr861= NC_000010.11:78000013:C:T p.(Thr861=) NC_000010.11:78000013:C:T p.(Thr861=) NC_000010.11:78000013:C:T Identity +NM_001164673.2:c.447G>A NP_001158145.1:p.Thr149= NC_000004.12:3476456:G:A p.(Thr149=) NC_000004.12:3476456:G:A p.(Thr149=) NC_000004.12:3476456:G:A Identity +NM_001277126.2:c.1434G>A NP_001264055.1:p.Glu478= NC_000019.10:53810224:C:T p.(Glu478=) NC_000019.10:53810224:C:T p.(Glu478=) NC_000019.10:53810224:C:T Identity +NM_001013838.3:c.1266A>C NP_001013860.1:p.Ala422= NC_000016.10:67648245:A:C p.(Ala422=) NC_000016.10:67648245:A:C p.(Ala422=) NC_000016.10:67648245:A:C Identity +NM_001145901.2:c.1203C>T NP_001139373.1:p.Pro401= NC_000019.10:38916277:G:A p.(Pro401=) NC_000019.10:38916277:G:A p.(Pro401=) NC_000019.10:38916277:G:A Identity +NM_001024218.2:c.738C>T NP_001019389.1:p.Asp246= NC_000014.9:66965198:C:T p.(Asp246=) NC_000014.9:66965198:C:T p.(Asp246=) NC_000014.9:66965198:C:T Identity +NM_001005862.3:c.1560C>T NP_001005862.1:p.Leu520= NC_000017.11:39716517:C:T p.(Leu520=) NC_000017.11:39716517:C:T p.(Leu520=) NC_000017.11:39716517:C:T Identity +NM_153603.4:c.1981C>T NP_705831.1:p.Leu661= NC_000016.10:23393253:G:A p.(Leu661=) NC_000016.10:23393253:G:A p.(Leu661=) NC_000016.10:23393253:G:A Identity +NM_019109.5:c.28_45dup NP_061982.3:p.Leu15_Pro16insAlaLeuCysLeuLeuLeu NC_000016.10:5071870:CTGCTGGCGCTGTGTCTGCTGCTG:CTGCTGGCGCTGTGTCTGCTGCTGGCGCTGTGTCTGCTGCTG p.(Ala10_Leu15dup) NC_000016.10:5071870:CTGCTGGCGCTGTGTCTGCTGCTG:CTGCTGGCGCTGTGTCTGCTGCTGGCGCTGTGTCTGCTGCTG p.(Ala10_Leu15dup) ERR:SPDI Analogous +NM_001085411.3:c.150G>T NP_001078880.1:p.Gly50= NC_000005.10:36241648:C:A p.(Gly50=) NC_000005.10:36241648:C:A p.(Gly50=) NC_000005.10:36241648:C:A Identity +NM_000663.5:c.588G>C NP_000654.2:p.Thr196= NC_000016.10:8766254:G:C p.(Thr196=) NC_000016.10:8766254:G:C p.(Thr196=) NC_000016.10:8766254:G:C Identity +NM_000744.7:c.1395C>A NP_000735.1:p.Ser465= NC_000020.11:63350015:G:T p.(Ser465=) NC_000020.11:63350015:G:T p.(Ser465=) NC_000020.11:63350015:G:T Identity +NM_001317034.1:c.30T>C NP_001303963.1:p.Pro10= NC_000020.11:50958493:A:G p.(Pro10=) NC_000020.11:50958493:A:G p.(Pro10=) NC_000020.11:50958493:A:G Identity +NM_001410908.1:c.1749A>C NP_001397837.1:p.Ala583= NC_000007.14:105101450:A:C p.(Ala583=) NC_000007.14:105101450:A:C p.(Ala583=) NC_000007.14:105101450:A:C Identity +NM_001079911.3:c.1359G>A NP_001073380.1:p.Thr453= NC_000004.12:87663184:G:A p.(Thr453=) NC_000004.12:87663184:G:A p.(Thr453=) NC_000004.12:87663184:G:A Identity +NM_001256267.2:c.3867T>C NP_001243196.1:p.Ser1289= NC_000010.11:68210358:T:C p.(Ser1289=) NC_000010.11:68210358:T:C p.(Ser1289=) NC_000010.11:68210358:T:C Identity +NM_001166136.2:c.2895G>A NP_001159608.1:p.Ala965= NC_000004.12:5576376:C:T p.(Ala965=) NC_000004.12:5576376:C:T p.(Ala965=) NC_000004.12:5576376:C:T Identity +NM_006204.4:c.1401T>C NP_006195.3:p.Ile467= NC_000010.11:93635627:T:C p.(Ile467=) NC_000010.11:93635627:T:C p.(Ile467=) NC_000010.11:93635627:T:C Identity +NM_001384732.1:c.3366T>C NP_001371661.1:p.Asp1122= NC_000005.10:37201731:A:G p.(Asp1122=) NC_000005.10:37201731:A:G p.(Asp1122=) NC_000005.10:37201731:A:G Identity +NM_001256850.1:c.45567T>C NP_001243779.1:p.Asn15189= NC_000002.12:178611818:A:G p.(Asn15189=) NC_000002.12:178611818:A:G p.(Asn15189=) NC_000002.12:178611818:A:G Identity +NM_005515.4:c.525G>A NP_005506.3:p.Leu175= NC_000007.14:157009825:C:T p.(Leu175=) NC_000007.14:157009825:C:T p.(Leu175=) NC_000007.14:157009825:C:T Identity +NM_000211.5:c.780G>C NP_000202.3:p.Val260= NC_000021.9:44900436:C:G p.(Val260=) NC_000021.9:44900436:C:G p.(Val260=) NC_000021.9:44900436:C:G Identity +NM_001384158.1:c.51T>G NP_001371087.1:p.Leu17= NC_000014.9:91942927:A:C p.(Leu17=) NC_000014.9:91942927:A:C p.(Leu17=) NC_000014.9:91942927:A:C Identity +NM_001037333.3:c.342G>T NP_001032410.1:p.Val114= NC_000005.10:157296728:G:T p.(Val114=) NC_000005.10:157296728:G:T p.(Val114=) NC_000005.10:157296728:G:T Identity +NM_000177.5:c.1149C>A NP_000168.1:p.Gly383= NC_000009.12:121318684:C:A p.(Gly383=) NC_000009.12:121318684:C:A p.(Gly383=) NC_000009.12:121318684:C:A Identity +NM_002547.3:c.705A>G NP_002538.1:p.Thr235= NC_000023.11:68210279:T:C p.(Thr235=) NC_000023.11:68210279:T:C p.(Thr235=) NC_000023.11:68210279:T:C Identity +NM_001084.5:c.204C>A NP_001075.1:p.Thr68= NC_000007.14:101216543:G:T p.(Thr68=) NC_000007.14:101216543:G:T p.(Thr68=) NC_000007.14:101216543:G:T Identity +NM_199242.3:c.117G>A NP_954712.1:p.Glu39= NC_000017.11:75844220:C:T p.(Glu39=) NC_000017.11:75844220:C:T p.(Glu39=) NC_000017.11:75844220:C:T Identity +NM_019098.5:c.1047T>C NP_061971.3:p.Tyr349= NC_000008.11:86644629:A:G p.(Tyr349=) NC_000008.11:86644629:A:G p.(Tyr349=) NC_000008.11:86644629:A:G Identity +NM_203288.2:c.237C>T NP_976033.1:p.His79= NC_000007.14:33099382:G:A p.(His79=) NC_000007.14:33099382:G:A p.(His79=) NC_000007.14:33099382:G:A Identity +NM_001355186.2:c.1049G>A NP_001342115.1:p.Ter350= NC_000003.12:43718530:G:A p.(Ter350=) NC_000003.12:43718530:G:A p.(Ter350Ter) NC_000003.12:43718530:G:A Identity +NM_001145138.2:c.1275C>T NP_001138610.1:p.Pro425= NC_000011.10:65654749:G:A p.(Pro425=) NC_000011.10:65654749:G:A p.(Pro425=) NC_000011.10:65654749:G:A Identity +NM_000137.4:c.1098G>T NP_000128.1:p.Ser366= NC_000015.10:80181076:G:T p.(Ser366=) NC_000015.10:80181076:G:T p.(Ser366=) NC_000015.10:80181076:G:T Identity +NM_000093.5:c.1596G>T NP_000084.3:p.Ala532= NC_000009.12:134750815:G:T p.(Ala532=) NC_000009.12:134750815:G:T p.(Ala532=) NC_000009.12:134750815:G:T Identity +NM_001271684.2:c.28C>T NP_001258613.1:p.Leu10= NC_000001.11:99993581:C:T p.(Leu10=) NC_000001.11:99993581:C:T p.(Leu10=) NC_000001.11:99993581:C:T Identity +NM_001220.5:c.1974G>A NP_001211.3:p.Ser658= NC_000007.14:44220088:C:T p.(Ser658=) NC_000007.14:44220088:C:T p.(Ser658=) NC_000007.14:44220088:C:T Identity +NM_001130089.2:c.246T>C NP_001123561.1:p.Ala82= NC_000016.10:75641623:A:G p.(Ala82=) NC_000016.10:75641623:A:G p.(Ala82=) NC_000016.10:75641623:A:G Identity +NM_000428.3:c.1989G>A NP_000419.1:p.Ser663= NC_000014.9:74529120:C:T p.(Ser663=) NC_000014.9:74529120:C:T p.(Ser663=) NC_000014.9:74529120:C:T Identity +NM_001282237.2:c.1479C>T NP_001269166.1:p.Ala493= NC_000014.9:99175353:G:A p.(Ala493=) NC_000014.9:99175353:G:A p.(Ala493=) NC_000014.9:99175353:G:A Identity +NM_001411101.1:c.2565C>T NP_001398030.1:p.Arg855= NC_000017.11:82927910:C:T p.(Arg855=) NC_000017.11:82927910:C:T p.(Arg855=) NC_000017.11:82927910:C:T Identity +NM_001374839.1:c.1162C>T NP_001361768.1:p.Leu388= NC_000008.11:144413542:G:A p.(Leu388=) NC_000008.11:144413542:G:A p.(Leu388=) NC_000008.11:144413542:G:A Identity +NM_001347828.2:c.2832C>T NP_001334757.1:p.Asp944= NC_000004.12:54288880:C:T p.(Asp944=) NC_000004.12:54288880:C:T p.(Asp944=) NC_000004.12:54288880:C:T Identity +NM_001164507.2:c.25101T>C NP_001157979.2:p.Tyr8367= NC_000002.12:151491731:A:G p.(Tyr8367=) NC_000002.12:151491731:A:G p.(Tyr8367=) NC_000002.12:151491731:A:G Identity +NM_018163.3:c.384C>T NP_060633.1:p.Ile128= NC_000015.10:40776289:G:A p.(Ile128=) NC_000015.10:40776289:G:A p.(Ile128=) NC_000015.10:40776289:G:A Identity +NM_001142597.2:c.597C>T NP_001136069.1:p.Tyr199= NC_000011.10:57660946:C:T p.(Tyr199=) NC_000011.10:57660946:C:T p.(Tyr199=) NC_000011.10:57660946:C:T Identity +NM_000168.6:c.3003C>T NP_000159.3:p.Gly1001= NC_000007.14:41966069:G:A p.(Gly1001=) NC_000007.14:41966069:G:A p.(Gly1001=) NC_000007.14:41966069:G:A Identity +NM_001972.4:c.693C>G NP_001963.1:p.Ala231= NC_000019.10:856052:C:G p.(Ala231=) NC_000019.10:856052:C:G p.(Ala231=) NC_000019.10:856052:C:G Identity +NM_001258214.1:c.1863C>T NP_001245143.1:p.Ala621= NC_000001.11:67386585:C:T p.(Ala621=) NC_000001.11:67386585:C:T p.(Ala621=) NC_000001.11:67386585:C:T Identity +NM_004446.3:c.804T>C NP_004437.2:p.Tyr268= NC_000001.11:220024402:A:G p.(Tyr268=) NC_000001.11:220024402:A:G p.(Tyr268=) NC_000001.11:220024402:A:G Identity +NM_000177.5:c.1938C>T NP_000168.1:p.Gly646= NC_000009.12:121328912:C:T p.(Gly646=) NC_000009.12:121328912:C:T p.(Gly646=) NC_000009.12:121328912:C:T Identity +NM_001008844.3:c.5074T>C NP_001008844.1:p.Leu1692= NC_000006.12:7584132:T:C p.(Leu1692=) NC_000006.12:7584132:T:C p.(Leu1692=) NC_000006.12:7584132:T:C Identity +NM_001122769.3:c.27T>A NP_001116241.1:p.Gly9= NC_000006.12:79518867:A:T p.(Gly9=) NC_000006.12:79518867:A:T p.(Gly9=) NC_000006.12:79518867:A:T Identity +NM_001005207.5:c.2706C>T NP_001005207.1:p.Ser902= NC_000017.11:59001703:G:A p.(Ser902=) NC_000017.11:59001703:G:A p.(Ser902=) NC_000017.11:59001703:G:A Identity +NM_014975.3:c.1275C>T NP_055790.1:p.Ile425= NC_000019.10:12858647:C:T p.(Ile425=) NC_000019.10:12858647:C:T p.(Ile425=) NC_000019.10:12858647:C:T Identity +NM_001349896.1:c.1041T>A NP_001336825.1:p.Gly347= NC_000022.11:26464588:A:T p.(Gly347=) NC_000022.11:26464588:A:T p.(Gly347=) NC_000022.11:26464588:A:T Identity +NM_138694.4:c.7173G>T NP_619639.3:p.Leu2391= NC_000006.12:51885908:C:A p.(Leu2391=) NC_000006.12:51885908:C:A p.(Leu2391=) NC_000006.12:51885908:C:A Identity +NM_001145527.2:c.588C>T NP_001138999.1:p.Ala196= NC_000009.12:137717127:C:T p.(Ala196=) NC_000009.12:137717127:C:T p.(Ala196=) NC_000009.12:137717127:C:T Identity +NM_001376.5:c.7659T>C NP_001367.2:p.Pro2553= NC_000014.9:102016809:T:C p.(Pro2553=) NC_000014.9:102016809:T:C p.(Pro2553=) NC_000014.9:102016809:T:C Identity +NM_014171.6:c.87T>C NP_054890.1:p.Ser29= NC_000002.12:46619630:T:C p.(Ser29=) NC_000002.12:46619630:T:C p.(Ser29=) NC_000002.12:46619630:T:C Identity +NM_000227.6:c.4113C>G NP_000218.3:p.Thr1371= NC_000018.10:23939299:C:G p.(Thr1371=) NC_000018.10:23939299:C:G p.(Thr1371=) NC_000018.10:23939299:C:G Identity +NM_022166.4:c.822G>A NP_071449.1:p.Lys274= NC_000016.10:17259078:C:T p.(Lys274=) NC_000016.10:17259078:C:T p.(Lys274=) NC_000016.10:17259078:C:T Identity +NM_017617.5:c.4311G>T NP_060087.3:p.Gly1437= NC_000009.12:136505584:C:A p.(Gly1437=) NC_000009.12:136505584:C:A p.(Gly1437=) NC_000009.12:136505584:C:A Identity +NM_001372.4:c.624T>C NP_001363.2:p.Ser208= NC_000017.11:11610404:T:C p.(Ser208=) NC_000017.11:11610404:T:C p.(Ser208=) NC_000017.11:11610404:T:C Identity +NM_001001563.5:c.753G>A NP_001001563.2:p.Lys251= NC_000019.10:39488116:G:A p.(Lys251=) NC_000019.10:39488116:G:A p.(Lys251=) NC_000019.10:39488116:G:A Identity +NM_001386500.1:c.2424T>G NP_001373429.1:p.Val808= NC_000001.11:11232525:A:C p.(Val808=) NC_000001.11:11232525:A:C p.(Val808=) NC_000001.11:11232525:A:C Identity +NM_001135659.3:c.912C>T NP_001129131.1:p.Gly304= NC_000002.12:50922664:G:A p.(Gly304=) NC_000002.12:50922664:G:A p.(Gly304=) NC_000002.12:50922664:G:A Identity +NM_001184728.3:c.1545C>A NP_001171657.1:p.Arg515= NC_000020.11:45425801:C:A p.(Arg515=) NC_000020.11:45425801:C:A p.(Arg515=) NC_000020.11:45425801:C:A Identity +NM_005560.6:c.9696C>T NP_005551.3:p.Pro3232= NC_000020.11:62311723:G:A p.(Pro3232=) NC_000020.11:62311723:G:A p.(Pro3232=) NC_000020.11:62311723:G:A Identity +NM_000091.5:c.54G>A NP_000082.2:p.Leu18= NC_000002.12:227164779:G:A p.(Leu18=) NC_000002.12:227164779:G:A p.(Leu18=) NC_000002.12:227164779:G:A Identity +NM_014975.3:c.3156G>A NP_055790.1:p.Thr1052= NC_000019.10:12871064:G:A p.(Thr1052=) NC_000019.10:12871064:G:A p.(Thr1052=) NC_000019.10:12871064:G:A Identity +NM_001178133.2:c.492C>T NP_001171604.1:p.His164= NC_000010.11:102592618:C:T p.(His164=) NC_000010.11:102592618:C:T p.(His164=) NC_000010.11:102592618:C:T Identity +NM_001321120.2:c.612C>T NP_001308049.1:p.Asn204= NC_000017.11:61478688:C:T p.(Asn204=) NC_000017.11:61478688:C:T p.(Asn204=) NC_000017.11:61478688:C:T Identity +NM_022167.4:c.1584C>T NP_071450.2:p.Pro528= NC_000017.11:50356611:C:T p.(Pro528=) NC_000017.11:50356611:C:T p.(Pro528=) NC_000017.11:50356611:C:T Identity +NM_052813.5:c.1590C>T NP_434700.2:p.Asn530= NC_000009.12:136364322:G:A p.(Asn530=) NC_000009.12:136364322:G:A p.(Asn530=) NC_000009.12:136364322:G:A Identity +NM_003737.4:c.8481G>A NP_003728.1:p.Arg2827= NC_000011.10:6623194:C:T p.(Arg2827=) NC_000011.10:6623194:C:T p.(Arg2827=) NC_000011.10:6623194:C:T Identity +NM_001142864.4:c.2781C>T NP_001136336.2:p.Gly927= NC_000016.10:88732615:G:A p.(Gly927=) NC_000016.10:88732615:G:A p.(Gly927=) NC_000016.10:88732615:G:A Identity +NM_001244580.2:c.7377C>T NP_001231509.1:p.Phe2459= NC_000007.14:98967583:C:T p.(Phe2459=) NC_000007.14:98967583:C:T p.(Phe2459=) NC_000007.14:98967583:C:T Identity +NM_001244580.2:c.5664G>A NP_001231509.1:p.Ala1888= NC_000007.14:98953387:G:A p.(Ala1888=) NC_000007.14:98953387:G:A p.(Ala1888=) NC_000007.14:98953387:G:A Identity +NM_000234.3:c.1227C>T NP_000225.1:p.Arg409= NC_000019.10:48137548:G:A p.(Arg409=) NC_000019.10:48137548:G:A p.(Arg409=) NC_000019.10:48137548:G:A Identity +NM_001042399.2:c.216C>T NP_001035858.1:p.His72= NC_000012.12:94411804:G:A p.(His72=) NC_000012.12:94411804:G:A p.(His72=) NC_000012.12:94411804:G:A Identity +NM_207361.6:c.3075A>G NP_997244.4:p.Leu1025= NC_000013.11:38690418:A:G p.(Leu1025=) NC_000013.11:38690418:A:G p.(Leu1025=) NC_000013.11:38690418:A:G Identity +NM_002848.4:c.1905G>A NP_002839.1:p.Pro635= NC_000012.12:15524826:G:A p.(Pro635=) NC_000012.12:15524826:G:A p.(Pro635=) NC_000012.12:15524826:G:A Identity +NM_005245.4:c.1686G>A NP_005236.2:p.Leu562= NC_000004.12:186708141:C:T p.(Leu562=) NC_000004.12:186708141:C:T p.(Leu562=) NC_000004.12:186708141:C:T Identity +NM_000540.3:c.528G>A NP_000531.2:p.Glu176= NC_000019.10:38444251:G:A p.(Glu176=) NC_000019.10:38444251:G:A p.(Glu176=) NC_000019.10:38444251:G:A Identity +NM_000295.5:c.996C>A NP_000286.3:p.Ile332= NC_000014.9:94379532:G:T p.(Ile332=) NC_000014.9:94379532:G:T p.(Ile332=) NC_000014.9:94379532:G:T Identity +NM_001142298.2:c.135T>C NP_001135770.1:p.Asp45= NC_000005.10:179823942:T:C p.(Asp45=) NC_000005.10:179823942:T:C p.(Asp45=) NC_000005.10:179823942:T:C Identity +NM_001136139.4:c.708C>T NP_001129611.1:p.Phe236= NC_000019.10:1622167:G:A p.(Phe236=) NC_000019.10:1622167:G:A p.(Phe236=) NC_000019.10:1622167:G:A Identity +NM_001271723.2:c.786A>G NP_001258652.1:p.Arg262= NC_000005.10:148406311:A:G p.(Arg262=) NC_000005.10:148406311:A:G p.(Arg262=) NC_000005.10:148406311:A:G Identity +NM_000718.4:c.3531G>A NP_000709.1:p.Ser1177= NC_000009.12:138047020:G:A p.(Ser1177=) NC_000009.12:138047020:G:A p.(Ser1177=) NC_000009.12:138047020:G:A Identity +NM_015243.3:c.993A>G NP_056058.2:p.Gln331= NC_000008.11:99121231:A:G p.(Gln331=) NC_000008.11:99121231:A:G p.(Gln331=) NC_000008.11:99121231:A:G Identity +NM_001367830.1:c.3564C>T NP_001354759.1:p.Ala1188= NC_000019.10:11221941:G:A p.(Ala1188=) NC_000019.10:11221941:G:A p.(Ala1188=) NC_000019.10:11221941:G:A Identity +NM_001144763.2:c.1581T>C NP_001138235.1:p.Ser527= NC_000011.10:108513697:A:G p.(Ser527=) NC_000011.10:108513697:A:G p.(Ser527=) NC_000011.10:108513697:A:G Identity +NM_001256053.2:c.4068_4071del NP_001242982.1:p.Arg1357_Glu1358insTer NC_000010.11:27024457:TCTTTCT:TCT p.(Glu1358Ter) NC_000010.11:27024457:TCTTTCT:TCT p.(Glu1358Ter) NC_000010.11:27024457:TCTT: Analogous +NM_001165979.2:c.3294G>A NP_001159451.1:p.Ser1098= NC_000010.11:94265894:G:A p.(Ser1098=) NC_000010.11:94265894:G:A p.(Ser1098=) NC_000010.11:94265894:G:A Identity +NM_014974.3:c.2967C>T NP_055789.1:p.Tyr989= NC_000010.11:356443:G:A p.(Tyr989=) NC_000010.11:356443:G:A p.(Tyr989=) NC_000010.11:356443:G:A Identity +NM_001410908.1:c.654A>G NP_001397837.1:p.Ser218= NC_000007.14:105074739:A:G p.(Ser218=) NC_000007.14:105074739:A:G p.(Ser218=) NC_000007.14:105074739:A:G Identity +NM_001291411.2:c.1488G>A NP_001278340.2:p.Ala496= NC_000021.9:33550718:G:A p.(Ala496=) NC_000021.9:33550718:G:A p.(Ala496=) NC_000021.9:33550718:G:A Identity +NM_001379291.1:c.3180C>G NP_001366220.1:p.Arg1060= NC_000019.10:15240011:G:C p.(Arg1060=) NC_000019.10:15240011:G:C p.(Arg1060=) NC_000019.10:15240011:G:C Identity +NM_001367904.1:c.1332C>T NP_001354833.1:p.Asp444= NC_000011.10:117518643:G:A p.(Asp444=) NC_000011.10:117518643:G:A p.(Asp444=) NC_000011.10:117518643:G:A Identity +NM_019066.5:c.1665G>T NP_061939.3:p.Pro555= NC_000015.10:23646077:C:A p.(Pro555=) NC_000015.10:23646077:C:A p.(Pro555=) NC_000015.10:23646077:C:A Identity +NM_000318.3:c.201C>T NP_000309.2:p.Phe67= NC_000008.11:76983977:G:A p.(Phe67=) NC_000008.11:76983977:G:A p.(Phe67=) NC_000008.11:76983977:G:A Identity +NM_001130009.3:c.189A>G NP_001123481.3:p.Leu63= NC_000002.12:17761422:A:G p.(Leu63=) NC_000002.12:17761422:A:G p.(Leu63=) NC_000002.12:17761422:A:G Identity +NM_001065.4:c.1191C>G NP_001056.1:p.Arg397= NC_000012.12:6329488:G:C p.(Arg397=) NC_000012.12:6329488:G:C p.(Arg397=) NC_000012.12:6329488:G:C Identity +NM_001114636.2:c.105C>T NP_001108108.1:p.Asp35= NC_000002.12:58232103:G:A p.(Asp35=) NC_000002.12:58232103:G:A p.(Asp35=) NC_000002.12:58232103:G:A Identity +NM_000411.8:c.696G>A NP_000402.3:p.Lys232= NC_000021.9:36936748:C:T p.(Lys232=) NC_000021.9:36936748:C:T p.(Lys232=) NC_000021.9:36936748:C:T Identity +NM_138295.5:c.8061C>T NP_612152.1:p.Pro2687= NC_000007.14:47800780:G:A p.(Pro2687=) NC_000007.14:47800780:G:A p.(Pro2687=) NC_000007.14:47800780:G:A Identity +NM_000824.5:c.879C>T NP_000815.1:p.Asp293= NC_000004.12:157143933:C:T p.(Asp293=) NC_000004.12:157143933:C:T p.(Asp293=) NC_000004.12:157143933:C:T Identity +NM_001961.4:c.1383C>T NP_001952.1:p.Ile461= NC_000019.10:3980029:G:A p.(Ile461=) NC_000019.10:3980029:G:A p.(Ile461=) NC_000019.10:3980029:G:A Identity +NM_001199138.2:c.645C>T NP_001186067.1:p.Thr215= NC_000002.12:32251218:G:A p.(Thr215=) NC_000002.12:32251218:G:A p.(Thr215=) NC_000002.12:32251218:G:A Identity +NM_001145527.2:c.2109G>A NP_001138999.1:p.Gly703= NC_000009.12:137777971:G:A p.(Gly703=) NC_000009.12:137777971:G:A p.(Gly703=) NC_000009.12:137777971:G:A Identity +NM_001127493.3:c.4359T>C NP_001120965.1:p.Asp1453= NC_000004.12:113348289:T:C p.(Asp1453=) NC_000004.12:113348289:T:C p.(Asp1453=) NC_000004.12:113348289:T:C Identity +NM_003014.4:c.867G>A NP_003005.2:p.Glu289= NC_000007.14:37907652:C:T p.(Glu289=) NC_000007.14:37907652:C:T p.(Glu289=) NC_000007.14:37907652:C:T Identity +NM_001077397.1:c.277T>C NP_001070865.1:p.Leu93= NC_000001.11:234609217:A:G p.(Leu93=) NC_000001.11:234609217:A:G p.(Leu93=) NC_000001.11:234609217:A:G Identity +NM_001278196.2:c.699G>A NP_001265125.1:p.Ser233= NC_000001.11:244054499:G:A p.(Ser233=) NC_000001.11:244054499:G:A p.(Ser233=) NC_000001.11:244054499:G:A Identity +NM_001015051.4:c.1281T>C NP_001015051.3:p.Thr427= NC_000006.12:45547085:T:C p.(Thr427=) NC_000006.12:45547085:T:C p.(Thr427=) NC_000006.12:45547085:T:C Identity +NM_000381.4:c.411T>C NP_000372.1:p.Cys137= NC_000023.11:10567136:A:G p.(Cys137=) NC_000023.11:10567136:A:G p.(Cys137=) NC_000023.11:10567136:A:G Identity +NM_138413.4:c.441T>C NP_612422.2:p.Ser147= NC_000010.11:97599188:T:C p.(Ser147=) NC_000010.11:97599188:T:C p.(Ser147=) NC_000010.11:97599188:T:C Identity +NM_014727.3:c.4473C>T NP_055542.1:p.Gly1491= NC_000019.10:35727960:C:T p.(Gly1491=) NC_000019.10:35727960:C:T p.(Gly1491=) NC_000019.10:35727960:C:T Identity +NM_003705.5:c.114C>T NP_003696.2:p.Asp38= NC_000002.12:171868775:G:A p.(Asp38=) NC_000002.12:171868775:G:A p.(Asp38=) NC_000002.12:171868775:G:A Identity +LRG_1025t2:c.5442G>A LRG_1025p2:p.Glu1814= NC_000022.11:42209863:C:T ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found +LRG_1247t1:c.2379G>A LRG_1247p1:p.Thr793= NC_000007.14:4791339:G:A ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found +NM_018026.4:c.2349C>A NP_060496.2:p.Pro783= NC_000011.10:66239196:C:A p.(Pro783=) NC_000011.10:66239196:C:A p.(Pro783=) NC_000011.10:66239196:C:A Identity +NM_001414505.1:c.1296A>C NP_001401434.1:p.Thr432= NC_000021.9:33283230:A:C p.(Thr432=) NC_000021.9:33283230:A:C p.(Thr432=) NC_000021.9:33283230:A:C Identity +NM_001136139.4:c.183C>T NP_001129611.1:p.Ser61= NC_000019.10:1632367:G:A p.(Ser61=) NC_000019.10:1632367:G:A p.(Ser61=) NC_000019.10:1632367:G:A Identity +NM_001106.4:c.930C>T NP_001097.2:p.Gly310= NC_000003.12:38479796:C:T p.(Gly310=) NC_000003.12:38479796:C:T p.(Gly310=) NC_000003.12:38479796:C:T Identity +NM_001378183.1:c.6573G>A NP_001365112.1:p.Ala2191= NC_000018.10:10699045:C:T p.(Ala2191=) NC_000018.10:10699045:C:T p.(Ala2191=) NC_000018.10:10699045:C:T Identity +NM_000198.4:c.312C>T NP_000189.1:p.Thr104= NC_000001.11:119421812:C:T p.(Thr104=) NC_000001.11:119421812:C:T p.(Thr104=) NC_000001.11:119421812:C:T Identity +NM_006766.5:c.5787G>A NP_006757.2:p.Gln1929= NC_000008.11:41932432:C:T p.(Gln1929=) NC_000008.11:41932432:C:T p.(Gln1929=) NC_000008.11:41932432:C:T Identity +NM_001290185.2:c.300C>T NP_001277114.1:p.Asn100= NC_000011.10:119069337:C:T p.(Asn100=) NC_000011.10:119069337:C:T p.(Asn100=) NC_000011.10:119069337:C:T Identity +NM_001039958.2:c.315C>T NP_001035047.1:p.Arg105= NC_000015.10:89776671:C:T p.(Arg105=) NC_000015.10:89776671:C:T p.(Arg105=) NC_000015.10:89776671:C:T Identity +NM_001348729.2:c.1281A>G NP_001335658.1:p.Arg427= NC_000002.12:8791222:T:C p.(Arg427=) NC_000002.12:8791222:T:C p.(Arg427=) NC_000002.12:8791222:T:C Identity +NM_030943.4:c.246A>G NP_112205.2:p.Gly82= NC_000014.9:102928463:A:G p.(Gly82=) NC_000014.9:102928463:A:G p.(Gly82=) NC_000014.9:102928463:A:G Identity +NM_000180.4:c.177G>T NP_000171.1:p.Leu59= NC_000017.11:8003223:G:T p.(Leu59=) NC_000017.11:8003223:G:T p.(Leu59=) NC_000017.11:8003223:G:T Identity +NM_001365999.1:c.6180C>T NP_001352928.1:p.Val2060= NC_000001.11:43437315:C:T p.(Val2060=) NC_000001.11:43437315:C:T p.(Val2060=) NC_000001.11:43437315:C:T Identity +NM_001081.4:c.10524C>T NP_001072.2:p.Pro3508= NC_000010.11:16831255:G:A p.(Pro3508=) NC_000010.11:16831255:G:A p.(Pro3508=) NC_000010.11:16831255:G:A Identity +NM_015512.5:c.2154C>T NP_056327.4:p.Ser718= NC_000003.12:52348934:C:T p.(Ser718=) NC_000003.12:52348934:C:T p.(Ser718=) NC_000003.12:52348934:C:T Identity +NM_001166412.2:c.243A>G NP_001159884.1:p.Arg81= NC_000006.12:168510072:A:G p.(Arg81=) NC_000006.12:168510072:A:G p.(Arg81=) NC_000006.12:168510072:A:G Identity +NM_001256119.2:c.420C>T NP_001243048.1:p.Ala140= NC_000023.11:153930768:G:A p.(Ala140=) NC_000023.11:153930768:G:A p.(Ala140=) NC_000023.11:153930768:G:A Identity +NM_000419.5:c.2646G>A NP_000410.2:p.Pro882= NC_000017.11:44375671:C:T p.(Pro882=) NC_000017.11:44375671:C:T p.(Pro882=) NC_000017.11:44375671:C:T Identity +NM_001283009.2:c.2493C>T NP_001269938.1:p.Pro831= NC_000020.11:63690883:C:T p.(Pro831=) NC_000020.11:63690883:C:T p.(Pro831=) NC_000020.11:63690883:C:T Identity +NM_001164281.3:c.969C>T NP_001157753.1:p.His323= NC_000006.12:111580249:G:A p.(His323=) NC_000006.12:111580249:G:A p.(His323=) NC_000006.12:111580249:G:A Identity +NM_001042681.2:c.3864C>T NP_001036146.1:p.His1288= NC_000001.11:8358670:G:A p.(His1288=) NC_000001.11:8358670:G:A p.(His1288=) NC_000001.11:8358670:G:A Identity +NM_001252043.2:c.1677C>T NP_001238972.1:p.Ala559= NC_000016.10:29985466:C:T p.(Ala559=) NC_000016.10:29985466:C:T p.(Ala559=) NC_000016.10:29985466:C:T Identity +NM_001350912.2:c.498A>C NP_001337841.1:p.Pro166= NC_000012.12:21456055:A:C p.(Pro166=) NC_000012.12:21456055:A:C p.(Pro166=) NC_000012.12:21456055:A:C Identity +NM_001303458.3:c.1146T>C NP_001290387.1:p.Tyr382= NC_000020.11:43642503:T:C p.(Tyr382=) NC_000020.11:43642503:T:C p.(Tyr382=) NC_000020.11:43642503:T:C Identity +NM_001282205.2:c.351G>T NP_001269134.1:p.Ser117= NC_000009.12:34637220:C:A p.(Ser117=) NC_000009.12:34637220:C:A p.(Ser117=) NC_000009.12:34637220:C:A Identity +NM_000902.5:c.1221T>G NP_000893.2:p.Thr407= NC_000003.12:155143474:T:G p.(Thr407=) NC_000003.12:155143474:T:G p.(Thr407=) NC_000003.12:155143474:T:G Identity +NM_000170.3:c.2187A>G NP_000161.2:p.Ala729= NC_000009.12:6556167:T:C p.(Ala729=) NC_000009.12:6556167:T:C p.(Ala729=) NC_000009.12:6556167:T:C Identity +NM_001453.3:c.309C>T NP_001444.2:p.Gly103= NC_000006.12:1610753:C:T p.(Gly103=) NC_000006.12:1610753:C:T p.(Gly103=) NC_000006.12:1610753:C:T Identity +NM_001372.4:c.7305C>T NP_001363.2:p.Leu2435= NC_000017.11:11768586:C:T p.(Leu2435=) NC_000017.11:11768586:C:T p.(Leu2435=) NC_000017.11:11768586:C:T Identity +NM_001256959.2:c.696C>T NP_001243888.2:p.Phe232= NC_000001.11:11827142:C:T p.(Phe232=) NC_000001.11:11827142:C:T p.(Phe232=) NC_000001.11:11827142:C:T Identity +NM_001042385.2:c.1596C>T NP_001035844.1:p.Asp532= NC_000002.12:44323375:G:A p.(Asp532=) NC_000002.12:44323375:G:A p.(Asp532=) NC_000002.12:44323375:G:A Identity +NM_001099403.2:c.1764C>T NP_001092873.1:p.Ala588= NC_000004.12:80203225:C:T p.(Ala588=) NC_000004.12:80203225:C:T p.(Ala588=) NC_000004.12:80203225:C:T Identity +NM_001131015.2:c.849G>A NP_001124487.1:p.Pro283= NC_000009.12:128179357:C:T p.(Pro283=) NC_000009.12:128179357:C:T p.(Pro283=) NC_000009.12:128179357:C:T Identity +NM_001288951.2:c.1806G>A NP_001275880.1:p.Leu602= NC_000002.12:47046317:G:A p.(Leu602=) NC_000002.12:47046317:G:A p.(Leu602=) NC_000002.12:47046317:G:A Identity +NM_001316772.1:c.1014G>A NP_001303701.1:p.Leu338= NC_000007.14:30616039:G:A p.(Leu338=) NC_000007.14:30616039:G:A p.(Leu338=) NC_000007.14:30616039:G:A Identity +NM_001256850.1:c.17010G>A NP_001243779.1:p.Gly5670= NC_000002.12:178730571:C:T p.(Gly5670=) NC_000002.12:178730571:C:T p.(Gly5670=) NC_000002.12:178730571:C:T Identity +NM_004482.4:c.1857C>T NP_004473.2:p.Asn619= NC_000002.12:165748825:G:A p.(Asn619=) NC_000002.12:165748825:G:A p.(Asn619=) NC_000002.12:165748825:G:A Identity +NM_001142800.2:c.2799C>T NP_001136272.1:p.Ser933= NC_000006.12:64902159:G:A p.(Ser933=) NC_000006.12:64902159:G:A p.(Ser933=) NC_000006.12:64902159:G:A Identity +NM_000260.4:c.1086C>T NP_000251.3:p.Asn362= NC_000011.10:77160167:C:T p.(Asn362=) NC_000011.10:77160167:C:T p.(Asn362=) NC_000011.10:77160167:C:T Identity +NM_001304482.2:c.147G>A NP_001291411.1:p.Thr49= NC_000003.12:47406024:G:A p.(Thr49=) NC_000003.12:47406024:G:A p.(Thr49=) NC_000003.12:47406024:G:A Identity +NM_001258446.1:c.852G>C NP_001245375.1:p.Pro284= NC_000008.11:143321200:C:G p.(Pro284=) NC_000008.11:143321200:C:G p.(Pro284=) NC_000008.11:143321200:C:G Identity +NM_001271022.2:c.948C>T NP_001257951.1:p.Ser316= NC_000003.12:48460382:C:T p.(Ser316=) NC_000003.12:48460382:C:T p.(Ser316=) NC_000003.12:48460382:C:T Identity +NM_153240.5:c.577T>C NP_694972.3:p.Leu193= NC_000003.12:132719086:A:G p.(Leu193=) NC_000003.12:132719086:A:G p.(Leu193=) NC_000003.12:132719086:A:G Identity +NM_003737.4:c.8469C>T NP_003728.1:p.Pro2823= NC_000011.10:6623206:G:A p.(Pro2823=) NC_000011.10:6623206:G:A p.(Pro2823=) NC_000011.10:6623206:G:A Identity +NM_001081.4:c.7179C>T NP_001072.2:p.Asp2393= NC_000010.11:16915851:G:A p.(Asp2393=) NC_000010.11:16915851:G:A p.(Asp2393=) NC_000010.11:16915851:G:A Identity +NM_000878.5:c.309C>T NP_000869.1:p.Ile103= NC_000022.11:37139195:G:A p.(Ile103=) NC_000022.11:37139195:G:A p.(Ile103=) NC_000022.11:37139195:G:A Identity +NM_001305005.3:c.567C>T NP_001291934.1:p.Val189= NC_000002.12:107997955:C:T p.(Val189=) NC_000002.12:107997955:C:T p.(Val189=) NC_000002.12:107997955:C:T Identity +NM_198056.3:c.5730A>G NP_932173.1:p.Arg1910= NC_000003.12:38550641:T:C p.(Arg1910=) NC_000003.12:38550641:T:C p.(Arg1910=) NC_000003.12:38550641:T:C Identity +NM_001145770.3:c.1818G>A NP_001139242.1:p.Leu606= NC_000016.10:57661849:G:A p.(Leu606=) NC_000016.10:57661849:G:A p.(Leu606=) NC_000016.10:57661849:G:A Identity +NM_000489.6:c.1164A>G NP_000480.3:p.Lys388= NC_000023.11:77684091:T:C p.(Lys388=) NC_000023.11:77684091:T:C p.(Lys388=) NC_000023.11:77684091:T:C Identity +NM_000133.4:c.177C>T NP_000124.1:p.Asn59= NC_000023.11:139537097:C:T p.(Asn59=) NC_000023.11:139537097:C:T p.(Asn59=) NC_000023.11:139537097:C:T Identity +NM_001355019.2:c.570T>C NP_001341948.1:p.Asn190= NC_000005.10:134199177:A:G p.(Asn190=) NC_000005.10:134199177:A:G p.(Asn190=) NC_000005.10:134199177:A:G Identity +NM_022725.4:c.351C>T NP_073562.1:p.Pro117= NC_000011.10:22625459:G:A p.(Pro117=) NC_000011.10:22625459:G:A p.(Pro117=) NC_000011.10:22625459:G:A Identity +LRG_1191t1:c.3009G>A LRG_1191p1:p.Glu1003= NC_000020.11:10641151:C:T ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_001199216.2:c.1596G>A NP_001186145.1:p.Leu532= NC_000019.10:35311971:G:A p.(Leu532=) NC_000019.10:35311971:G:A p.(Leu532=) NC_000019.10:35311971:G:A Identity +NM_002238.4:c.2250C>G NP_002229.1:p.Ser750= NC_000001.11:210683919:G:C p.(Ser750=) NC_000001.11:210683919:G:C p.(Ser750=) NC_000001.11:210683919:G:C Identity +NM_001351225.2:c.1941T>A NP_001338154.1:p.Leu647= NC_000017.11:6579812:A:T p.(Leu647=) NC_000017.11:6579812:A:T p.(Leu647=) NC_000017.11:6579812:A:T Identity +NM_001166133.2:c.1593C>T NP_001159605.1:p.Cys531= NC_000004.12:78308123:C:T p.(Cys531=) NC_000004.12:78308123:C:T p.(Cys531=) NC_000004.12:78308123:C:T Identity +NM_001136493.3:c.1449G>A NP_001129965.1:p.Leu483= NC_000001.11:39968625:G:A p.(Leu483=) NC_000001.11:39968625:G:A p.(Leu483=) NC_000001.11:39968625:G:A Identity +NM_001127325.2:c.129G>A NP_001120797.1:p.Gln43= NC_000001.11:11680382:C:T p.(Gln43=) NC_000001.11:11680382:C:T p.(Gln43=) NC_000001.11:11680382:C:T Identity +NM_000532.5:c.1155T>C NP_000523.2:p.Asn385= NC_000003.12:136326866:T:C p.(Asn385=) NC_000003.12:136326866:T:C p.(Asn385=) NC_000003.12:136326866:T:C Identity +NM_002334.4:c.1758C>T NP_002325.2:p.Gly586= NC_000011.10:46890433:G:A p.(Gly586=) NC_000011.10:46890433:G:A p.(Gly586=) NC_000011.10:46890433:G:A Identity +NM_000217.3:c.1455C>T NP_000208.2:p.Cys485= NC_000012.12:4912832:C:T p.(Cys485=) NC_000012.12:4912832:C:T p.(Cys485=) NC_000012.12:4912832:C:T Identity +NM_001128608.2:c.2043T>G NP_001122080.1:p.Ser681= NC_000015.10:41818237:T:G p.(Ser681=) NC_000015.10:41818237:T:G p.(Ser681=) NC_000015.10:41818237:T:G Identity +NM_001193333.3:c.1251A>G NP_001180262.1:p.Ala417= NC_000016.10:30188545:A:G p.(Ala417=) NC_000016.10:30188545:A:G p.(Ala417=) NC_000016.10:30188545:A:G Identity +NM_001282489.3:c.210C>G NP_001269418.1:p.Ser70= NC_000017.11:74920316:G:C p.(Ser70=) NC_000017.11:74920316:G:C p.(Ser70=) NC_000017.11:74920316:G:C Identity +NM_014727.3:c.534C>T NP_055542.1:p.Ala178= NC_000019.10:35719880:C:T p.(Ala178=) NC_000019.10:35719880:C:T p.(Ala178=) NC_000019.10:35719880:C:T Identity +NM_013432.5:c.30G>A NP_038460.4:p.Leu10= NC_000008.11:144444270:C:T p.(Leu10=) NC_000008.11:144444270:C:T p.(Leu10=) NC_000008.11:144444270:C:T Identity +NM_004273.5:c.84_98dup NP_004264.2:p.Val32_Ile33insMetValPheValVal NC_000010.11:72005924:TGGTTTTTGTGGTGAT:TGGTTTTTGTGGTGATGGTTTTTGTGGTGAT p.(Val32_Ile33insMetValPheValVal) NC_000010.11:72005924:TGGTTTTTGTGGTGAT:TGGTTTTTGTGGTGATGGTTTTTGTGGTGAT p.(Val32_Ile33insMetValPheValVal) ERR:SPDI Identity +NM_000177.5:c.963C>T NP_000168.1:p.Phe321= NC_000009.12:121317141:C:T p.(Phe321=) NC_000009.12:121317141:C:T p.(Phe321=) NC_000009.12:121317141:C:T Identity +NM_001278055.2:c.1122C>T NP_001264984.1:p.Ser374= NC_000013.11:23355048:G:A p.(Ser374=) NC_000013.11:23355048:G:A p.(Ser374=) NC_000013.11:23355048:G:A Identity +NM_199242.3:c.1414C>T NP_954712.1:p.Leu472= NC_000017.11:75836231:G:A p.(Leu472=) NC_000017.11:75836231:G:A p.(Leu472=) NC_000017.11:75836231:G:A Identity +NM_206933.4:c.12792A>G NP_996816.3:p.Glu4264= NC_000001.11:215675118:T:C p.(Glu4264=) NC_000001.11:215675118:T:C p.(Glu4264=) NC_000001.11:215675118:T:C Identity +NM_001413017.1:c.2670C>T NP_001399946.1:p.Asp890= NC_000008.11:144512482:G:A p.(Asp890=) NC_000008.11:144512482:G:A p.(Asp890=) NC_000008.11:144512482:G:A Identity +NM_001035235.4:c.564A>G NP_001030312.3:p.Arg188= NC_000005.10:140550810:T:C p.(Arg188=) NC_000005.10:140550810:T:C p.(Arg188=) NC_000005.10:140550810:T:C Identity +NM_014727.3:c.7302G>A NP_055542.1:p.Ala2434= NC_000019.10:35736915:G:A p.(Ala2434=) NC_000019.10:35736915:G:A p.(Ala2434=) NC_000019.10:35736915:G:A Identity +NM_001278196.2:c.1500C>T NP_001265125.1:p.Ser500= NC_000001.11:244055300:C:T p.(Ser500=) NC_000001.11:244055300:C:T p.(Ser500=) NC_000001.11:244055300:C:T Identity +NM_003816.3:c.1038T>A NP_003807.1:p.Ala346= NC_000008.11:39026717:T:A p.(Ala346=) NC_000008.11:39026717:T:A p.(Ala346=) NC_000008.11:39026717:T:A Identity +NM_001195573.1:c.4023C>T NP_001182502.1:p.Gly1341= NC_000014.9:95103372:G:A p.(Gly1341=) NC_000014.9:95103372:G:A p.(Gly1341=) NC_000014.9:95103372:G:A Identity +NM_000718.4:c.3786C>T NP_000709.1:p.Ile1262= NC_000009.12:138052166:C:T p.(Ile1262=) NC_000009.12:138052166:C:T p.(Ile1262=) NC_000009.12:138052166:C:T Identity +NM_017890.5:c.5319A>G NP_060360.3:p.Lys1773= NC_000008.11:99641833:A:G p.(Lys1773=) NC_000008.11:99641833:A:G p.(Lys1773=) NC_000008.11:99641833:A:G Identity +NM_014714.4:c.1689G>A NP_055529.2:p.Ala563= NC_000016.10:1568297:C:T p.(Ala563=) NC_000016.10:1568297:C:T p.(Ala563=) NC_000016.10:1568297:C:T Identity +NM_001305275.2:c.2085C>T NP_001292204.1:p.Asp695= NC_000001.11:1044193:C:T p.(Asp695=) NC_000001.11:1044193:C:T p.(Asp695=) NC_000001.11:1044193:C:T Identity +NM_000079.4:c.540G>A NP_000070.1:p.Pro180= NC_000002.12:174754218:C:T p.(Pro180=) NC_000002.12:174754218:C:T p.(Pro180=) NC_000002.12:174754218:C:T Identity +NM_001276326.2:c.1464G>A NP_001263255.1:p.Pro488= NC_000011.10:64600905:G:A p.(Pro488=) NC_000011.10:64600905:G:A p.(Pro488=) NC_000011.10:64600905:G:A Identity +NM_001113378.2:c.3276C>T NP_001106849.1:p.Ala1092= NC_000015.10:89305624:C:T p.(Ala1092=) NC_000015.10:89305624:C:T p.(Ala1092=) NC_000015.10:89305624:C:T Identity +NM_001278511.2:c.624C>T NP_001265440.1:p.Ile208= NC_000015.10:82680887:G:A p.(Ile208=) NC_000015.10:82680887:G:A p.(Ile208=) NC_000015.10:82680887:G:A Identity +NM_001069.3:c.415C>T NP_001060.1:p.Leu139= NC_000006.12:3154785:G:A p.(Leu139=) NC_000006.12:3154785:G:A p.(Leu139=) NC_000006.12:3154785:G:A Identity +NM_001001957.2:c.486G>A NP_001001957.2:p.Val162= NC_000001.11:247896071:G:A p.(Val162=) NC_000001.11:247896071:G:A p.(Val162=) NC_000001.11:247896071:G:A Identity +NM_014714.4:c.2337C>T NP_055529.2:p.Phe779= NC_000016.10:1557996:G:A p.(Phe779=) NC_000016.10:1557996:G:A p.(Phe779=) NC_000016.10:1557996:G:A Identity +NM_000339.3:c.1728C>T NP_000330.3:p.Ile576= NC_000016.10:56884106:C:T p.(Ile576=) NC_000016.10:56884106:C:T p.(Ile576=) NC_000016.10:56884106:C:T Identity +NM_001127487.2:c.210C>T NP_001120959.1:p.Leu70= NC_000007.14:128830846:C:T p.(Leu70=) NC_000007.14:128830846:C:T p.(Leu70=) NC_000007.14:128830846:C:T Identity +NM_001367225.1:c.720C>T NP_001354154.1:p.Thr240= NC_000016.10:87891852:G:A p.(Thr240=) NC_000016.10:87891852:G:A p.(Thr240=) NC_000016.10:87891852:G:A Identity +NM_004839.4:c.594G>A NP_004830.2:p.Glu198= NC_000015.10:82854700:C:T p.(Glu198=) NC_000015.10:82854700:C:T p.(Glu198=) NC_000015.10:82854700:C:T Identity +NM_001163435.3:c.213T>G NP_001156907.2:p.Ala71= NC_000004.12:106295146:A:C p.(Ala71=) NC_000004.12:106295146:A:C p.(Ala71=) NC_000004.12:106295146:A:C Identity +NM_001177998.2:c.1182C>T NP_001171469.2:p.Val394= NC_000004.12:25673222:C:T p.(Val394=) NC_000004.12:25673222:C:T p.(Val394=) NC_000004.12:25673222:C:T Identity +NM_001199.4:c.1395C>T NP_001190.1:p.Ile465= NC_000008.11:22194541:C:T p.(Ile465=) NC_000008.11:22194541:C:T p.(Ile465=) NC_000008.11:22194541:C:T Identity +NM_001304763.2:c.2797_2802del NP_001291692.1:p.Ser933_Ser934del NC_000001.11:151289837:CCAGCTCC:CC p.(Ser933_Ser934del) NC_000001.11:151289837:CCAGCTCC:CC p.(Ser933_Ser934del) NC_000001.11:151289839:AGCTCC: Identity +NM_001385.3:c.1089C>T NP_001376.1:p.Gly363= NC_000008.11:104427982:G:A p.(Gly363=) NC_000008.11:104427982:G:A p.(Gly363=) NC_000008.11:104427982:G:A Identity +NM_001350748.2:c.2307C>T NP_001337677.1:p.Ser769= NC_000013.11:101111198:G:A p.(Ser769=) NC_000013.11:101111198:G:A p.(Ser769=) NC_000013.11:101111198:G:A Identity +NM_001346897.2:c.927G>A NP_001333826.1:p.Thr309= NC_000007.14:55156587:G:A p.(Thr309=) NC_000007.14:55156587:G:A p.(Thr309=) NC_000007.14:55156587:G:A Identity +NM_001319218.2:c.88C>T NP_001306147.1:p.Leu30= NC_000001.11:18890079:G:A p.(Leu30=) NC_000001.11:18890079:G:A p.(Leu30=) NC_000001.11:18890079:G:A Identity +NM_015180.6:c.18861T>C NP_055995.4:p.Asn6287= NC_000014.9:64212097:T:C p.(Asn6287=) NC_000014.9:64212097:T:C p.(Asn6287=) NC_000014.9:64212097:T:C Identity +NM_001256896.2:c.225G>A NP_001243825.1:p.Leu75= NC_000004.12:3493140:G:A p.(Leu75=) NC_000004.12:3493140:G:A p.(Leu75=) NC_000004.12:3493140:G:A Identity +NM_001178129.2:c.627C>T NP_001171600.1:p.Leu209= NC_000007.14:83407102:G:A p.(Leu209=) NC_000007.14:83407102:G:A p.(Leu209=) NC_000007.14:83407102:G:A Identity +NM_001306090.2:c.678G>A NP_001293019.1:p.Thr226= NC_000004.12:5733410:G:A p.(Thr226=) NC_000004.12:5733410:G:A p.(Thr226=) NC_000004.12:5733410:G:A Identity +NM_004459.7:c.1173C>T NP_004450.3:p.Asp391= NC_000017.11:67854498:C:T p.(Asp391=) NC_000017.11:67854498:C:T p.(Asp391=) NC_000017.11:67854498:C:T Identity +NM_001321431.2:c.5265C>T NP_001308360.1:p.Asn1755= NC_000019.10:8097310:G:A p.(Asn1755=) NC_000019.10:8097310:G:A p.(Asn1755=) NC_000019.10:8097310:G:A Identity +NM_001144920.3:c.222G>A NP_001138392.1:p.Lys74= NC_000007.14:139137926:G:A p.(Lys74=) NC_000007.14:139137926:G:A p.(Lys74=) NC_000007.14:139137926:G:A Identity +NM_001321193.3:c.549C>G NP_001308122.1:p.Leu183= NC_000003.12:177050488:G:C p.(Leu183=) NC_000003.12:177050488:G:C p.(Leu183=) NC_000003.12:177050488:G:C Identity +NM_052813.5:c.570G>A NP_434700.2:p.Ala190= NC_000009.12:136370897:C:T p.(Ala190=) NC_000009.12:136370897:C:T p.(Ala190=) NC_000009.12:136370897:C:T Identity +NM_001257158.2:c.906_*1del NP_001244087.1:p.Lys301_Ter302insTer NC_000007.14:130398889:TTT:T p.(Ter302_Arg303=) NC_000007.14:130398889:TTT:T p.(Ter302Ter) NC_000007.14:130398889:TT: Analogous +NM_003373.4:c.3144T>A NP_003364.1:p.Ile1048= NC_000010.11:74118111:T:A p.(Ile1048=) NC_000010.11:74118111:T:A p.(Ile1048=) NC_000010.11:74118111:T:A Identity +NM_001244189.2:c.615A>G NP_001231118.1:p.Leu205= NC_000014.9:58442750:A:G p.(Leu205=) NC_000014.9:58442750:A:G p.(Leu205=) NC_000014.9:58442750:A:G Identity +NM_000089.4:c.180C>A NP_000080.2:p.Gly60= NC_000007.14:94400242:C:A p.(Gly60=) NC_000007.14:94400242:C:A p.(Gly60=) NC_000007.14:94400242:C:A Identity +NM_175875.5:c.1617C>T NP_787071.3:p.Phe539= NC_000019.10:45766103:G:A p.(Phe539=) NC_000019.10:45766103:G:A p.(Phe539=) NC_000019.10:45766103:G:A Identity +NM_000338.3:c.2928C>T NP_000329.2:p.Ile976= NC_000015.10:48291831:C:T p.(Ile976=) NC_000015.10:48291831:C:T p.(Ile976=) NC_000015.10:48291831:C:T Identity +NM_005996.4:c.1236G>A NP_005987.3:p.Ser412= NC_000012.12:114674638:C:T p.(Ser412=) NC_000012.12:114674638:C:T p.(Ser412=) NC_000012.12:114674638:C:T Identity +NM_001161779.2:c.381C>T NP_001155251.1:p.Asp127= NC_000008.11:93922364:C:T p.(Asp127=) NC_000008.11:93922364:C:T p.(Asp127=) NC_000008.11:93922364:C:T Identity +NM_001370534.1:c.1023C>G NP_001357463.1:p.Val341= NC_000016.10:74644417:G:C p.(Val341=) NC_000016.10:74644417:G:C p.(Val341=) NC_000016.10:74644417:G:C Identity +NM_001271938.2:c.6474C>T NP_001258867.1:p.Pro2158= NC_000019.10:42368654:C:T p.(Pro2158=) NC_000019.10:42368654:C:T p.(Pro2158=) NC_000019.10:42368654:C:T Identity +NM_015512.5:c.7950C>T NP_056327.4:p.Asn2650= NC_000003.12:52383393:C:T p.(Asn2650=) NC_000003.12:52383393:C:T p.(Asn2650=) NC_000003.12:52383393:C:T Identity +NM_001355016.2:c.1971C>T NP_001341945.1:p.Pro657= NC_000005.10:150123061:G:A p.(Pro657=) NC_000005.10:150123061:G:A p.(Pro657=) NC_000005.10:150123061:G:A Identity +NM_001013840.1:c.132C>T NP_001013862.1:p.Ser44= NC_000010.11:95693821:G:A ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found +NM_001083946.2:c.651C>T NP_001077415.1:p.Cys217= NC_000002.12:37247463:C:T p.(Cys217=) NC_000002.12:37247463:C:T p.(Cys217=) NC_000002.12:37247463:C:T Identity +NM_001160227.2:c.859T>C NP_001153699.1:p.Leu287= NC_000015.10:44657104:A:G p.(Leu287=) NC_000015.10:44657104:A:G p.(Leu287=) NC_000015.10:44657104:A:G Identity +NM_000246.4:c.2328A>G NP_000237.2:p.Pro776= NC_000016.10:10907819:A:G p.(Pro776=) NC_000016.10:10907819:A:G p.(Pro776=) NC_000016.10:10907819:A:G Identity +NM_001354705.2:c.1830G>A NP_001341634.1:p.Leu610= NC_000012.12:57576276:G:A p.(Leu610=) NC_000012.12:57576276:G:A p.(Leu610=) NC_000012.12:57576276:G:A Identity +NM_001127487.2:c.3552C>T NP_001120959.1:p.Gly1184= NC_000007.14:128845016:C:T p.(Gly1184=) NC_000007.14:128845016:C:T p.(Gly1184=) NC_000007.14:128845016:C:T Identity +NM_001378458.1:c.6654C>G NP_001365387.1:p.Val2218= NC_000015.10:51480049:G:C p.(Val2218=) NC_000015.10:51480049:G:C p.(Val2218=) NC_000015.10:51480049:G:C Identity +NM_001165928.4:c.2439C>T NP_001159400.3:p.Ser813= NC_000003.12:49532949:C:T p.(Ser813=) NC_000003.12:49532949:C:T p.(Ser813=) NC_000003.12:49532949:C:T Identity +NM_001012614.2:c.1194C>T NP_001012632.1:p.His398= NC_000004.12:1212335:G:A p.(His398=) NC_000004.12:1212335:G:A p.(His398=) NC_000004.12:1212335:G:A Identity +NM_001278055.2:c.3508C>T NP_001264984.1:p.Leu1170= NC_000013.11:23339926:G:A p.(Leu1170=) NC_000013.11:23339926:G:A p.(Leu1170=) NC_000013.11:23339926:G:A Identity +NM_000720.4:c.1995C>T NP_000711.1:p.Asn665= NC_000003.12:53723833:C:T p.(Asn665=) NC_000003.12:53723833:C:T p.(Asn665=) NC_000003.12:53723833:C:T Identity +NM_020247.5:c.1788G>A NP_064632.2:p.Arg596= NC_000001.11:226986580:G:A p.(Arg596=) NC_000001.11:226986580:G:A p.(Arg596=) NC_000001.11:226986580:G:A Identity +NM_001378923.1:c.681C>T NP_001365852.1:p.Cys227= NC_000009.12:35793910:C:T p.(Cys227=) NC_000009.12:35793910:C:T p.(Cys227=) NC_000009.12:35793910:C:T Identity +NM_000545.8:c.1698C>T NP_000536.6:p.His566= NC_000012.12:120999556:C:T p.(His566=) NC_000012.12:120999556:C:T p.(His566=) NC_000012.12:120999556:C:T Identity +NM_005236.3:c.1071A>T NP_005227.1:p.Ile357= NC_000016.10:13932253:A:T p.(Ile357=) NC_000016.10:13932253:A:T p.(Ile357=) NC_000016.10:13932253:A:T Identity +NM_001083116.3:c.939C>T NP_001076585.1:p.Asp313= NC_000010.11:70598781:G:A p.(Asp313=) NC_000010.11:70598781:G:A p.(Asp313=) NC_000010.11:70598781:G:A Identity +NM_001144881.2:c.1678T>C NP_001138353.1:p.Leu560= NC_000012.12:42460626:A:G p.(Leu560=) NC_000012.12:42460626:A:G p.(Leu560=) NC_000012.12:42460626:A:G Identity +NM_001317924.2:c.1041C>T NP_001304853.1:p.Phe347= NC_000004.12:39224924:C:T p.(Phe347=) NC_000004.12:39224924:C:T p.(Phe347=) NC_000004.12:39224924:C:T Identity +NM_001355016.2:c.1335G>A NP_001341945.1:p.Thr445= NC_000005.10:150129808:C:T p.(Thr445=) NC_000005.10:150129808:C:T p.(Thr445=) NC_000005.10:150129808:C:T Identity +NM_001080463.2:c.8010C>T NP_001073932.1:p.His2670= NC_000011.10:103199397:C:T p.(His2670=) NC_000011.10:103199397:C:T p.(His2670=) NC_000011.10:103199397:C:T Identity +NM_152309.3:c.1242G>A NP_689522.2:p.Glu414= NC_000010.11:96645605:C:T p.(Glu414=) NC_000010.11:96645605:C:T p.(Glu414=) NC_000010.11:96645605:C:T Identity +NM_001079846.1:c.1611C>T NP_001073315.1:p.Ser537= NC_000016.10:3780829:G:A p.(Ser537=) NC_000016.10:3780829:G:A p.(Ser537=) NC_000016.10:3780829:G:A Identity +NM_005560.6:c.1398G>A NP_005551.3:p.Thr466= NC_000020.11:62346099:C:T p.(Thr466=) NC_000020.11:62346099:C:T p.(Thr466=) NC_000020.11:62346099:C:T Identity +NM_001024847.3:c.69G>C NP_001020018.1:p.Thr23= NC_000003.12:30606951:G:C p.(Thr23=) NC_000003.12:30606951:G:C p.(Thr23=) NC_000003.12:30606951:G:C Identity +NM_005914.4:c.2055G>A NP_005905.2:p.Ala685= NC_000008.11:47972982:G:A p.(Ala685=) NC_000008.11:47972982:G:A p.(Ala685=) NC_000008.11:47972982:G:A Identity +NM_000540.3:c.11253C>G NP_000531.2:p.Ser3751= NC_000019.10:38532729:C:G p.(Ser3751=) NC_000019.10:38532729:C:G p.(Ser3751=) NC_000019.10:38532729:C:G Identity +NM_001282750.2:c.111G>A NP_001269679.1:p.Ala37= NC_000001.11:172551559:G:A p.(Ala37=) NC_000001.11:172551559:G:A p.(Ala37=) NC_000001.11:172551559:G:A Identity +NM_001172745.3:c.2181T>C NP_001166216.1:p.Ser727= NC_000020.11:18555139:T:C p.(Ser727=) NC_000020.11:18555139:T:C p.(Ser727=) NC_000020.11:18555139:T:C Identity +NM_000329.3:c.1473G>A NP_000320.1:p.Val491= NC_000001.11:68429904:C:T p.(Val491=) NC_000001.11:68429904:C:T p.(Val491=) NC_000001.11:68429904:C:T Identity +NM_001079846.1:c.2457G>T NP_001073315.1:p.Pro819= NC_000016.10:3770878:C:A p.(Pro819=) NC_000016.10:3770878:C:A p.(Pro819=) NC_000016.10:3770878:C:A Identity +NM_001100913.3:c.123G>A NP_001094383.2:p.Leu41= NC_000014.9:105348495:G:A p.(Leu41=) NC_000014.9:105348495:G:A p.(Leu41=) NC_000014.9:105348495:G:A Identity +NM_001018037.2:c.36C>T NP_001018047.1:p.Asn12= NC_000009.12:77177739:C:T p.(Asn12=) NC_000009.12:77177739:C:T p.(Asn12=) NC_000009.12:77177739:C:T Identity +NM_022166.4:c.2808G>A NP_071449.1:p.Thr936= NC_000016.10:17108766:C:T p.(Thr936=) NC_000016.10:17108766:C:T p.(Thr936=) NC_000016.10:17108766:C:T Identity +NM_001286957.2:c.222C>T NP_001273886.1:p.Asn74= NC_000012.12:48918315:C:T p.(Asn74=) NC_000012.12:48918315:C:T p.(Asn74=) NC_000012.12:48918315:C:T Identity +NM_022168.4:c.699G>A NP_071451.2:p.Leu233= NC_000002.12:162306778:C:T p.(Leu233=) NC_000002.12:162306778:C:T p.(Leu233=) NC_000002.12:162306778:C:T Identity +NM_001350234.2:c.1804C>T NP_001337163.1:p.Leu602= NC_000001.11:9721243:C:T p.(Leu602=) NC_000001.11:9721243:C:T p.(Leu602=) NC_000001.11:9721243:C:T Identity +NM_001141945.3:c.978C>T NP_001135417.1:p.Thr326= NC_000010.11:88938072:G:A p.(Thr326=) NC_000010.11:88938072:G:A p.(Thr326=) NC_000010.11:88938072:G:A Identity +NM_002238.4:c.1908C>T NP_002229.1:p.Ala636= NC_000001.11:210775470:G:A p.(Ala636=) NC_000001.11:210775470:G:A p.(Ala636=) NC_000001.11:210775470:G:A Identity +NM_001375644.1:c.831G>A NP_001362573.1:p.Arg277= NC_000004.12:145654004:G:A p.(Arg277=) NC_000004.12:145654004:G:A p.(Arg277=) NC_000004.12:145654004:G:A Identity +NM_002661.5:c.3132G>A NP_002652.2:p.Arg1044= NC_000016.10:81937836:G:A p.(Arg1044=) NC_000016.10:81937836:G:A p.(Arg1044=) NC_000016.10:81937836:G:A Identity +NM_007123.6:c.4188G>A NP_009054.6:p.Gly1396= NC_000001.11:216196615:C:T p.(Gly1396=) NC_000001.11:216196615:C:T p.(Gly1396=) NC_000001.11:216196615:C:T Identity +NM_001286216.2:c.207C>T NP_001273145.1:p.Thr69= NC_000006.12:43625791:G:A p.(Thr69=) NC_000006.12:43625791:G:A p.(Thr69=) NC_000006.12:43625791:G:A Identity +NM_001256850.1:c.14436T>C NP_001243779.1:p.Leu4812= NC_000002.12:178734436:A:G p.(Leu4812=) NC_000002.12:178734436:A:G p.(Leu4812=) NC_000002.12:178734436:A:G Identity +NM_001001890.3:c.1119G>A NP_001001890.1:p.Ser373= NC_000021.9:34792377:C:T p.(Ser373=) NC_000021.9:34792377:C:T p.(Ser373=) NC_000021.9:34792377:C:T Identity +NM_001171933.1:c.1116G>A NP_001165404.1:p.Val372= NC_000010.11:71803383:G:A p.(Val372=) NC_000010.11:71803383:G:A p.(Val372=) NC_000010.11:71803383:G:A Identity +NM_005720.4:c.303C>T NP_005711.1:p.Cys101= NC_000007.14:99388171:C:T p.(Cys101=) NC_000007.14:99388171:C:T p.(Cys101=) NC_000007.14:99388171:C:T Identity +NM_000435.3:c.6201C>G NP_000426.2:p.Pro2067= NC_000019.10:15161426:G:C p.(Pro2067=) NC_000019.10:15161426:G:C p.(Pro2067=) NC_000019.10:15161426:G:C Identity +NM_000081.4:c.10743T>C NP_000072.2:p.Phe3581= NC_000001.11:235687005:A:G p.(Phe3581=) NC_000001.11:235687005:A:G p.(Phe3581=) NC_000001.11:235687005:A:G Identity +NM_007129.5:c.507C>T NP_009060.2:p.His169= NC_000013.11:99982570:C:T p.(His169=) NC_000013.11:99982570:C:T p.(His169=) NC_000013.11:99982570:C:T Identity +NM_000028.3:c.518_520dup NP_000019.2:p.Tyr173_Ser174insTyr NC_000001.11:99864440:CTACT:CTACTACT p.(Tyr173dup) NC_000001.11:99864440:CTACT:CTACTACT p.(Tyr173dup) ERR:SPDI Analogous +NM_001190992.2:c.711T>G NP_001177921.1:p.Ser237= NC_000003.12:155853286:A:C p.(Ser237=) NC_000003.12:155853286:A:C p.(Ser237=) NC_000003.12:155853286:A:C Identity +NM_001291746.2:c.1638G>A NP_001278675.1:p.Ser546= NC_000002.12:60922408:G:A p.(Ser546=) NC_000002.12:60922408:G:A p.(Ser546=) NC_000002.12:60922408:G:A Identity +NM_015295.3:c.597G>A NP_056110.2:p.Val199= NC_000018.10:2674103:G:A p.(Val199=) NC_000018.10:2674103:G:A p.(Val199=) NC_000018.10:2674103:G:A Identity +NM_001411139.1:c.6C>T NP_001398068.1:p.Asn2= NC_000019.10:34433347:C:T p.(Asn2=) NC_000019.10:34433347:C:T p.(Asn2=) NC_000019.10:34433347:C:T Identity +NM_001367830.1:c.132G>A NP_001354759.1:p.Gly44= NC_000019.10:11253638:C:T p.(Gly44=) NC_000019.10:11253638:C:T p.(Gly44=) NC_000019.10:11253638:C:T Identity +NM_001410908.1:c.4905_4910ACCCCC[2] NP_001397837.1:p.Pro1641_Pro1642del NC_000007.14:105112786:ACCCCCACCCCCACCCCC:ACCCCCACCCCC p.(Pro1641_Pro1642del) NC_000007.14:105112786:ACCCCC:ACCCCCACCCCC ERR:Parse ERR:Parse Identity +NM_000202.8:c.279T>A NP_000193.1:p.Thr93= NC_000023.11:149503450:A:T p.(Thr93=) NC_000023.11:149503450:A:T p.(Thr93=) NC_000023.11:149503450:A:T Identity +NM_002495.4:c.506_508dup NP_002486.1:p.Arg169_Thr170insArg NC_000005.10:53683196:AAGAA:AAGAAGAA p.(Arg169dup) NC_000005.10:53683196:AAGAA:AAGAAGAA p.(Arg169dup) ERR:SPDI Analogous +NM_015295.3:c.2043T>C NP_056110.2:p.Tyr681= NC_000018.10:2706449:T:C p.(Tyr681=) NC_000018.10:2706449:T:C p.(Tyr681=) NC_000018.10:2706449:T:C Identity +NM_001289123.2:c.1359C>T NP_001276052.1:p.Gly453= NC_000019.10:6495292:G:A p.(Gly453=) NC_000019.10:6495292:G:A p.(Gly453=) NC_000019.10:6495292:G:A Identity +NM_002180.3:c.12A>G NP_002171.2:p.Ala4= NC_000011.10:68903963:A:G p.(Ala4=) NC_000011.10:68903963:A:G p.(Ala4=) NC_000011.10:68903963:A:G Identity +NM_002334.4:c.1803T>C NP_002325.2:p.Asn601= NC_000011.10:46890388:A:G p.(Asn601=) NC_000011.10:46890388:A:G p.(Asn601=) NC_000011.10:46890388:A:G Identity +NM_018060.4:c.1827T>C NP_060530.3:p.Tyr609= NC_000001.11:220126832:T:C p.(Tyr609=) NC_000001.11:220126832:T:C p.(Tyr609=) NC_000001.11:220126832:T:C Identity +NM_001098426.2:c.188GCCCCGCGG[1] NP_001091896.1:p.63GPA[1] NC_000017.11:63842469:CCGCGGGGCCCGCGGGGCCC:CCGCGGGGCCC p.(Gly66_Ala68del) NC_000017.11:63842486:C:CCGCGGGGC ERR:Parse ERR:Parse Analogous +NM_001075098.4:c.315G>A NP_001068566.1:p.Glu105= NC_000006.12:39925780:C:T p.(Glu105=) NC_000006.12:39925780:C:T p.(Glu105=) NC_000006.12:39925780:C:T Identity +NM_020778.5:c.2400C>T NP_065829.4:p.Leu800= NC_000015.10:84857137:C:T p.(Leu800=) NC_000015.10:84857137:C:T p.(Leu800=) NC_000015.10:84857137:C:T Identity +NM_000718.4:c.561C>T NP_000709.1:p.Asp187= NC_000009.12:137913209:C:T p.(Asp187=) NC_000009.12:137913209:C:T p.(Asp187=) NC_000009.12:137913209:C:T Identity +NM_030662.4:c.168C>G NP_109587.1:p.Ala56= NC_000019.10:4117553:G:C p.(Ala56=) NC_000019.10:4117553:G:C p.(Ala56=) NC_000019.10:4117553:G:C Identity +NM_001142800.2:c.6795A>G NP_001136272.1:p.Pro2265= NC_000006.12:63999113:T:C p.(Pro2265=) NC_000006.12:63999113:T:C p.(Pro2265=) NC_000006.12:63999113:T:C Identity +NM_033109.5:c.1974T>C NP_149100.2:p.His658= NC_000002.12:55643357:A:G p.(His658=) NC_000002.12:55643357:A:G p.(His658=) NC_000002.12:55643357:A:G Identity +NM_001258206.2:c.450C>T NP_001245135.1:p.Asp150= NC_000019.10:6822220:C:T p.(Asp150=) NC_000019.10:6822220:C:T p.(Asp150=) NC_000019.10:6822220:C:T Identity +NM_001001957.2:c.900A>T NP_001001957.2:p.Ala300= NC_000001.11:247896485:A:T p.(Ala300=) NC_000001.11:247896485:A:T p.(Ala300=) NC_000001.11:247896485:A:T Identity +NM_015384.5:c.3318A>G NP_056199.2:p.Arg1106= NC_000005.10:37000385:A:G p.(Arg1106=) NC_000005.10:37000385:A:G p.(Arg1106=) NC_000005.10:37000385:A:G Identity +NM_001261826.3:c.1449C>T NP_001248755.1:p.Tyr483= NC_000019.10:2120893:G:A p.(Tyr483=) NC_000019.10:2120893:G:A p.(Tyr483=) NC_000019.10:2120893:G:A Identity +NM_001271933.2:c.3960A>G NP_001258862.1:p.Ser1320= NC_000011.10:117409843:A:G p.(Ser1320=) NC_000011.10:117409843:A:G p.(Ser1320=) NC_000011.10:117409843:A:G Identity +NM_000156.6:c.183G>A NP_000147.1:p.Gly61= NC_000019.10:1399936:C:T p.(Gly61=) NC_000019.10:1399936:C:T p.(Gly61=) NC_000019.10:1399936:C:T Identity +NM_001130823.3:c.2874C>A NP_001124295.1:p.Pro958= NC_000019.10:10146370:G:T p.(Pro958=) NC_000019.10:10146370:G:T p.(Pro958=) NC_000019.10:10146370:G:T Identity +NM_001244134.1:c.969C>T NP_001231063.1:p.Gly323= NC_000010.11:30458178:C:T p.(Gly323=) NC_000010.11:30458178:C:T p.(Gly323=) NC_000010.11:30458178:C:T Identity +NM_000128.4:c.651T>C NP_000119.1:p.Ser217= NC_000004.12:186276285:T:C p.(Ser217=) NC_000004.12:186276285:T:C p.(Ser217=) NC_000004.12:186276285:T:C Identity +NM_001002269.2:c.6C>G NP_001002269.1:p.Ala2= NC_000009.12:37785038:G:C p.(Ala2=) NC_000009.12:37785038:G:C p.(Ala2=) NC_000009.12:37785038:G:C Identity +NM_015202.5:c.2604C>T NP_056017.4:p.Asp868= NC_000016.10:27740900:C:T p.(Asp868=) NC_000016.10:27740900:C:T p.(Asp868=) NC_000016.10:27740900:C:T Identity +NM_001024218.2:c.1965C>G NP_001019389.1:p.Thr655= NC_000014.9:67169020:C:G p.(Thr655=) NC_000014.9:67169020:C:G p.(Thr655=) NC_000014.9:67169020:C:G Identity +NM_001354663.2:c.189G>A NP_001341592.1:p.Glu63= NC_000003.12:193626135:G:A p.(Glu63=) NC_000003.12:193626135:G:A p.(Glu63=) NC_000003.12:193626135:G:A Identity +NM_001018037.2:c.6891C>G NP_001018047.1:p.Leu2297= NC_000009.12:77340531:C:G p.(Leu2297=) NC_000009.12:77340531:C:G p.(Leu2297=) NC_000009.12:77340531:C:G Identity +NM_001244580.2:c.2667C>T NP_001231509.1:p.His889= NC_000007.14:98921796:C:T p.(His889=) NC_000007.14:98921796:C:T p.(His889=) NC_000007.14:98921796:C:T Identity +NM_000981.4:c.312G>A NP_000972.1:p.Arg104= NC_000017.11:39203064:G:A p.(Arg104=) NC_000017.11:39203064:G:A p.(Arg104=) NC_000017.11:39203064:G:A Identity +NM_001164665.2:c.852C>T NP_001158137.1:p.Ser284= NC_000007.14:138918773:G:A p.(Ser284=) NC_000007.14:138918773:G:A p.(Ser284=) NC_000007.14:138918773:G:A Identity +NM_000516.7:c.1095C>T NP_000507.1:p.Cys365= NC_000020.11:58910738:C:T p.(Cys365=) NC_000020.11:58910738:C:T p.(Cys365=) NC_000020.11:58910738:C:T Identity +NM_001374425.1:c.999C>T NP_001361354.1:p.Phe333= NC_000001.11:2405804:G:A p.(Phe333=) NC_000001.11:2405804:G:A p.(Phe333=) NC_000001.11:2405804:G:A Identity +NM_001308007.2:c.1317A>G NP_001294936.1:p.Arg439= NC_000011.10:86278440:A:G p.(Arg439=) NC_000011.10:86278440:A:G p.(Arg439=) NC_000011.10:86278440:A:G Identity +NM_001304763.2:c.2163C>T NP_001291692.1:p.Ser721= NC_000001.11:151288574:C:T p.(Ser721=) NC_000001.11:151288574:C:T p.(Ser721=) NC_000001.11:151288574:C:T Identity +NM_001199642.1:c.2097C>T NP_001186571.1:p.Ala699= NC_000003.12:123291292:G:A p.(Ala699=) NC_000003.12:123291292:G:A p.(Ala699=) NC_000003.12:123291292:G:A Identity +NM_000521.4:c.147G>C NP_000512.2:p.Ser49= NC_000005.10:74685406:G:C p.(Ser49=) NC_000005.10:74685406:G:C p.(Ser49=) NC_000005.10:74685406:G:C Identity +NM_001304763.2:c.2496C>T NP_001291692.1:p.Cys832= NC_000001.11:151289401:C:T p.(Cys832=) NC_000001.11:151289401:C:T p.(Cys832=) NC_000001.11:151289401:C:T Identity +NM_003362.4:c.114A>G NP_003353.1:p.Pro38= NC_000012.12:109098439:A:G p.(Pro38=) NC_000012.12:109098439:A:G p.(Pro38=) NC_000012.12:109098439:A:G Identity +NM_001368263.1:c.762C>T NP_001355192.1:p.Asp254= NC_000003.12:45474253:C:T p.(Asp254=) NC_000003.12:45474253:C:T p.(Asp254=) NC_000003.12:45474253:C:T Identity +NM_000448.3:c.2889A>G NP_000439.2:p.Gly963= NC_000011.10:36576192:A:G p.(Gly963=) NC_000011.10:36576192:A:G p.(Gly963=) NC_000011.10:36576192:A:G Identity +NM_000088.4:c.3564C>G NP_000079.2:p.Pro1188= NC_000017.11:50186889:G:C p.(Pro1188=) NC_000017.11:50186889:G:C p.(Pro1188=) NC_000017.11:50186889:G:C Identity +NM_000395.3:c.813G>A NP_000386.1:p.Ser271= NC_000022.11:36930468:G:A p.(Ser271=) NC_000022.11:36930468:G:A p.(Ser271=) NC_000022.11:36930468:G:A Identity +NM_000124.4:c.1417C>T NP_000115.1:p.Leu473= NC_000010.11:49505992:G:A p.(Leu473=) NC_000010.11:49505992:G:A p.(Leu473=) NC_000010.11:49505992:G:A Identity +NM_000428.3:c.1296G>T NP_000419.1:p.Pro432= NC_000014.9:74552289:C:A p.(Pro432=) NC_000014.9:74552289:C:A p.(Pro432=) NC_000014.9:74552289:C:A Identity +NM_001099952.4:c.2832C>T NP_001093422.2:p.Pro944= NC_000003.12:4676692:C:T p.(Pro944=) NC_000003.12:4676692:C:T p.(Pro944=) NC_000003.12:4676692:C:T Identity +NM_000372.5:c.255T>C NP_000363.1:p.Tyr85= NC_000011.10:89178207:T:C p.(Tyr85=) NC_000011.10:89178207:T:C p.(Tyr85=) NC_000011.10:89178207:T:C Identity +NM_139242.4:c.324T>C NP_640335.2:p.Tyr108= NC_000015.10:65026925:A:G p.(Tyr108=) NC_000015.10:65026925:A:G p.(Tyr108=) NC_000015.10:65026925:A:G Identity +NM_024652.6:c.4413G>A NP_078928.3:p.Gln1471= NC_000015.10:101056935:G:A p.(Gln1471=) NC_000015.10:101056935:G:A p.(Gln1471=) NC_000015.10:101056935:G:A Identity +NM_024652.6:c.5211G>A NP_078928.3:p.Thr1737= NC_000015.10:101065647:G:A p.(Thr1737=) NC_000015.10:101065647:G:A p.(Thr1737=) NC_000015.10:101065647:G:A Identity +NM_003907.3:c.2067T>C NP_003898.2:p.Asp689= NC_000003.12:184144667:T:C p.(Asp689=) NC_000003.12:184144667:T:C p.(Asp689=) NC_000003.12:184144667:T:C Identity +NM_001127891.3:c.324G>T NP_001121363.1:p.Arg108= NC_000016.10:55484108:G:T p.(Arg108=) NC_000016.10:55484108:G:T p.(Arg108=) NC_000016.10:55484108:G:T Identity +NM_001040436.3:c.132T>C NP_001035526.1:p.Ala44= NC_000012.12:32755742:A:G p.(Ala44=) NC_000012.12:32755742:A:G p.(Ala44=) NC_000012.12:32755742:A:G Identity +NM_145290.4:c.3591C>T NP_660333.2:p.Ser1197= NC_000004.12:22388079:G:A p.(Ser1197=) NC_000004.12:22388079:G:A p.(Ser1197=) NC_000004.12:22388079:G:A Identity +NM_001136029.4:c.4635C>T NP_001129501.1:p.Leu1545= NC_000022.11:31906346:C:T p.(Leu1545=) NC_000022.11:31906346:C:T p.(Leu1545=) NC_000022.11:31906346:C:T Identity +NM_001278689.2:c.1137C>A NP_001265618.1:p.Ile379= NC_000003.12:68987459:G:T p.(Ile379=) NC_000003.12:68987459:G:T p.(Ile379=) NC_000003.12:68987459:G:T Identity +NM_001286074.2:c.2754A>G NP_001273003.2:p.Glu918= NC_000023.11:71389637:A:G p.(Glu918=) NC_000023.11:71389637:A:G p.(Glu918=) NC_000023.11:71389637:A:G Identity +NM_001109974.3:c.651G>A NP_001103444.1:p.Thr217= NC_000005.10:150648925:G:A p.(Thr217=) NC_000005.10:150648925:G:A p.(Thr217=) NC_000005.10:150648925:G:A Identity +NM_014241.4:c.36C>T NP_055056.3:p.Ser12= NC_000010.11:17617303:G:A p.(Ser12=) NC_000010.11:17617303:G:A p.(Ser12=) NC_000010.11:17617303:G:A Identity +NM_001165255.2:c.130C>T NP_001158727.1:p.Leu44= NC_000007.14:157006564:G:A p.(Leu44=) NC_000007.14:157006564:G:A p.(Leu44=) NC_000007.14:157006564:G:A Identity +NM_013444.4:c.969G>A NP_038472.2:p.Pro323= NC_000023.11:56564841:G:A p.(Pro323=) NC_000023.11:56564841:G:A p.(Pro323=) NC_000023.11:56564841:G:A Identity +NM_000719.7:c.6369G>T NP_000710.5:p.Pro2123= NC_000012.12:2691150:G:T p.(Pro2123=) NC_000012.12:2691150:G:T p.(Pro2123=) NC_000012.12:2691150:G:T Identity +NM_000053.4:c.2139C>T NP_000044.2:p.Tyr713= NC_000013.11:51958526:G:A p.(Tyr713=) NC_000013.11:51958526:G:A p.(Tyr713=) NC_000013.11:51958526:G:A Identity +NM_001126105.3:c.1137C>T NP_001119577.1:p.Phe379= NC_000014.9:22774461:G:A p.(Phe379=) NC_000014.9:22774461:G:A p.(Phe379=) NC_000014.9:22774461:G:A Identity +NM_000158.4:c.1698G>A NP_000149.4:p.Gln566= NC_000003.12:81537015:C:T p.(Gln566=) NC_000003.12:81537015:C:T p.(Gln566=) NC_000003.12:81537015:C:T Identity +NM_001128608.2:c.1863C>T NP_001122080.1:p.Asp621= NC_000015.10:41817675:C:T p.(Asp621=) NC_000015.10:41817675:C:T p.(Asp621=) NC_000015.10:41817675:C:T Identity +NM_001258446.1:c.1510T>A NP_001245375.1:p.Ter504Lys NC_000008.11:143309442:A:T p.(Ter504LysextTer?) NC_000008.11:143309442:A:T p.(Ter504LysextTer?) NC_000008.11:143309442:A:T Analogous +NM_000094.4:c.1449A>C NP_000085.1:p.Thr483= NC_000003.12:48591730:T:G p.(Thr483=) NC_000003.12:48591730:T:G p.(Thr483=) NC_000003.12:48591730:T:G Identity +NM_001195563.2:c.15G>A NP_001182492.1:p.Glu5= NC_000001.11:6785544:G:A p.(Glu5=) NC_000001.11:6785544:G:A p.(Glu5=) NC_000001.11:6785544:G:A Identity +NM_001348081.2:c.1050G>A NP_001335010.1:p.Ala350= NC_000008.11:13401592:C:T p.(Ala350=) NC_000008.11:13401592:C:T p.(Ala350=) NC_000008.11:13401592:C:T Identity +NM_001330504.2:c.312C>T NP_001317433.1:p.Tyr104= NC_000016.10:5077921:C:T p.(Tyr104=) NC_000016.10:5077921:C:T p.(Tyr104=) NC_000016.10:5077921:C:T Identity +NM_001080517.3:c.2946C>T NP_001073986.1:p.Asn982= NC_000003.12:9470679:C:T p.(Asn982=) NC_000003.12:9470679:C:T p.(Asn982=) NC_000003.12:9470679:C:T Identity +NM_015425.6:c.2694G>A NP_056240.2:p.Val898= NC_000002.12:86047203:C:T p.(Val898=) NC_000002.12:86047203:C:T p.(Val898=) NC_000002.12:86047203:C:T Identity +NM_001168249.1:c.3870A>G NP_001161721.1:p.Pro1290= NC_000001.11:102898695:T:C ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001346083.2:c.855C>A NP_001333012.1:p.Thr285= NC_000001.11:205061301:C:A p.(Thr285=) NC_000001.11:205061301:C:A p.(Thr285=) NC_000001.11:205061301:C:A Identity +NM_001042465.3:c.723C>T NP_001035930.1:p.Cys241= NC_000010.11:71825890:G:A p.(Cys241=) NC_000010.11:71825890:G:A p.(Cys241=) NC_000010.11:71825890:G:A Identity +NM_001374425.1:c.867C>T NP_001361354.1:p.Asn289= NC_000001.11:2406585:G:A p.(Asn289=) NC_000001.11:2406585:G:A p.(Asn289=) NC_000001.11:2406585:G:A Identity +NM_001353591.2:c.342C>T NP_001340520.1:p.Asp114= NC_000014.9:74298012:G:A p.(Asp114=) NC_000014.9:74298012:G:A p.(Asp114=) NC_000014.9:74298012:G:A Identity +NM_001006658.3:c.3209_3211del NP_001006659.1:p.Ser1070_Gln1071delinsLys NC_000001.11:207485483:GCC: p.(Ser1070_Gln1071delinsLys) NC_000001.11:207485483:GCC: p.(Ser1070_Gln1071delinsLys) NC_000001.11:207485483:GCC: Identity +NM_001039958.2:c.633C>T NP_001035047.1:p.Val211= NC_000015.10:89776989:C:T p.(Val211=) NC_000015.10:89776989:C:T p.(Val211=) NC_000015.10:89776989:C:T Identity +NM_000316.3:c.1647G>A NP_000307.1:p.Glu549= NC_000003.12:46903520:G:A p.(Glu549=) NC_000003.12:46903520:G:A p.(Glu549=) NC_000003.12:46903520:G:A Identity +NM_030787.4:c.1695T>C NP_110414.1:p.Tyr565= NC_000001.11:197008667:T:C p.(Tyr565=) NC_000001.11:197008667:T:C p.(Tyr565=) NC_000001.11:197008667:T:C Identity +NM_003632.3:c.1707G>A NP_003623.1:p.Thr569= NC_000017.11:42689598:G:A p.(Thr569=) NC_000017.11:42689598:G:A p.(Thr569=) NC_000017.11:42689598:G:A Identity +NM_003014.4:c.66G>A NP_003005.2:p.Ala22= NC_000007.14:37916471:C:T p.(Ala22=) NC_000007.14:37916471:C:T p.(Ala22=) NC_000007.14:37916471:C:T Identity +NM_001567.4:c.2823G>A NP_001558.3:p.Thr941= NC_000011.10:72235929:G:A p.(Thr941=) NC_000011.10:72235929:G:A p.(Thr941=) NC_000011.10:72235929:G:A Identity +NM_052876.4:c.1461C>T NP_443108.1:p.Asp487= NC_000019.10:13138282:C:T p.(Asp487=) NC_000019.10:13138282:C:T p.(Asp487=) NC_000019.10:13138282:C:T Identity +NM_152383.5:c.1678C>T NP_689596.4:p.Leu560= NC_000002.12:232300057:C:T p.(Leu560=) NC_000002.12:232300057:C:T p.(Leu560=) NC_000002.12:232300057:C:T Identity +NM_000155.4:c.24T>G NP_000146.2:p.Pro8= NC_000009.12:34646727:T:G p.(Pro8=) NC_000009.12:34646727:T:G p.(Pro8=) NC_000009.12:34646727:T:G Identity +NM_000094.4:c.129G>A NP_000085.1:p.Leu43= NC_000003.12:48594504:C:T p.(Leu43=) NC_000003.12:48594504:C:T p.(Leu43=) NC_000003.12:48594504:C:T Identity +NM_000124.4:c.2266T>C NP_000115.1:p.Leu756= NC_000010.11:49478373:A:G p.(Leu756=) NC_000010.11:49478373:A:G p.(Leu756=) NC_000010.11:49478373:A:G Identity +NM_001379500.1:c.192C>T NP_001366429.1:p.Val64= NC_000021.9:45468326:C:T p.(Val64=) NC_000021.9:45468326:C:T p.(Val64=) NC_000021.9:45468326:C:T Identity +NM_001079855.2:c.921G>A NP_001073324.1:p.Ala307= NC_000023.11:2861604:G:A p.(Ala307=) NC_000023.11:2861604:G:A p.(Ala307=) NC_000023.11:2861604:G:A Identity +NM_000400.4:c.1453C>T NP_000391.1:p.Leu485= NC_000019.10:45357295:G:A p.(Leu485=) NC_000019.10:45357295:G:A p.(Leu485=) NC_000019.10:45357295:G:A Identity +NM_001035.3:c.3459G>A NP_001026.2:p.Gly1153= NC_000001.11:237569179:G:A p.(Gly1153=) NC_000001.11:237569179:G:A p.(Gly1153=) NC_000001.11:237569179:G:A Identity +NM_024685.4:c.168G>A NP_078961.3:p.Glu56= NC_000012.12:76348190:C:T p.(Glu56=) NC_000012.12:76348190:C:T p.(Glu56=) NC_000012.12:76348190:C:T Identity +NM_000246.4:c.1593C>G NP_000237.2:p.Gly531= NC_000016.10:10907084:C:G p.(Gly531=) NC_000016.10:10907084:C:G p.(Gly531=) NC_000016.10:10907084:C:G Identity +NM_001260474.2:c.360C>T NP_001247403.1:p.Ala120= NC_000021.9:42863532:G:A p.(Ala120=) NC_000021.9:42863532:G:A p.(Ala120=) NC_000021.9:42863532:G:A Identity +NM_004525.3:c.12375C>T NP_004516.2:p.Ser4125= NC_000002.12:169152884:G:A p.(Ser4125=) NC_000002.12:169152884:G:A p.(Ser4125=) NC_000002.12:169152884:G:A Identity +NM_001012614.2:c.657C>T NP_001012632.1:p.Ser219= NC_000004.12:1216062:G:A p.(Ser219=) NC_000004.12:1216062:G:A p.(Ser219=) NC_000004.12:1216062:G:A Identity +NM_000484.4:c.963C>T NP_000475.1:p.Tyr321= NC_000021.9:26000084:G:A p.(Tyr321=) NC_000021.9:26000084:G:A p.(Tyr321=) NC_000021.9:26000084:G:A Identity +NM_001135597.2:c.3402A>G NP_001129069.1:p.Leu1134= NC_000002.12:55317760:T:C p.(Leu1134=) NC_000002.12:55317760:T:C p.(Leu1134=) NC_000002.12:55317760:T:C Identity +NM_016219.5:c.102T>C NP_057303.2:p.Thr34= NC_000009.12:137087100:T:C p.(Thr34=) NC_000009.12:137087100:T:C p.(Thr34=) NC_000009.12:137087100:T:C Identity +NM_001159291.2:c.1806C>T NP_001152763.1:p.His602= NC_000006.12:109447362:G:A p.(His602=) NC_000006.12:109447362:G:A p.(His602=) NC_000006.12:109447362:G:A Identity +NM_001102406.2:c.534G>A NP_001095876.1:p.Thr178= NC_000004.12:112424001:G:A p.(Thr178=) NC_000004.12:112424001:G:A p.(Thr178=) NC_000004.12:112424001:G:A Identity +NM_001364837.1:c.135C>T NP_001351766.1:p.Asn45= NC_000014.9:64411097:C:T p.(Asn45=) NC_000014.9:64411097:C:T p.(Asn45=) NC_000014.9:64411097:C:T Identity +NM_001142641.2:c.885_899dup NP_001136113.1:p.Pro299_Gln300insHisArgHisThrPro NC_000012.12:132570111:CCCCGCACCGCCACACCCCGCA:CCCCGCACCGCCACACCCCGCACCGCCACACCCCGCA p.(His295_Pro299dup) NC_000012.12:132570111:CCCCGCACCGCCACACCCCGCA:CCCCGCACCGCCACACCCCGCACCGCCACACCCCGCA p.(His295_Pro299dup) ERR:SPDI Analogous +NM_001282526.2:c.750G>A NP_001269455.1:p.Pro250= NC_000020.11:18481809:G:A p.(Pro250=) NC_000020.11:18481809:G:A p.(Pro250=) NC_000020.11:18481809:G:A Identity +NM_001416202.1:c.2550G>A NP_001403131.1:p.Thr850= NC_000012.12:53060190:G:A p.(Thr850=) NC_000012.12:53060190:G:A p.(Thr850=) NC_000012.12:53060190:G:A Identity +NM_000941.2:c.279T>C NP_000932.3:p.Thr93= NC_000007.14:75979491:T:C ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_178859.4:c.381G>A NP_849190.2:p.Glu127= NC_000015.10:65053157:G:A p.(Glu127=) NC_000015.10:65053157:G:A p.(Glu127=) NC_000015.10:65053157:G:A Identity +NM_001160210.2:c.2007A>G NP_001153682.1:p.Ser669= NC_000007.14:96121214:T:C p.(Ser669=) NC_000007.14:96121214:T:C p.(Ser669=) NC_000007.14:96121214:T:C Identity +NM_001202504.1:c.384C>T NP_001189433.1:p.Phe128= NC_000018.10:79704885:C:T p.(Phe128=) NC_000018.10:79704885:C:T p.(Phe128=) NC_000018.10:79704885:C:T Identity +NM_000936.4:c.465G>A NP_000927.1:p.Ala155= NC_000010.11:116553731:G:A p.(Ala155=) NC_000010.11:116553731:G:A p.(Ala155=) NC_000010.11:116553731:G:A Identity +NM_001039885.3:c.771T>C NP_001034974.1:p.Ala257= NC_000019.10:46756220:T:C p.(Ala257=) NC_000019.10:46756220:T:C p.(Ala257=) NC_000019.10:46756220:T:C Identity +NM_022725.4:c.306C>T NP_073562.1:p.Ala102= NC_000011.10:22625504:G:A p.(Ala102=) NC_000011.10:22625504:G:A p.(Ala102=) NC_000011.10:22625504:G:A Identity +NM_000747.3:c.336C>T NP_000738.2:p.Asp112= NC_000017.11:7446924:C:T p.(Asp112=) NC_000017.11:7446924:C:T p.(Asp112=) NC_000017.11:7446924:C:T Identity +NM_173689.7:c.3484C>T NP_775960.4:p.Leu1162= NC_000009.12:123374672:C:T p.(Leu1162=) NC_000009.12:123374672:C:T p.(Leu1162=) NC_000009.12:123374672:C:T Identity +NM_001136029.4:c.4308C>T NP_001129501.1:p.Ile1436= NC_000022.11:31897612:C:T p.(Ile1436=) NC_000022.11:31897612:C:T p.(Ile1436=) NC_000022.11:31897612:C:T Identity +NM_001077365.2:c.948C>T NP_001070833.1:p.Pro316= NC_000009.12:131511428:C:T p.(Pro316=) NC_000009.12:131511428:C:T p.(Pro316=) NC_000009.12:131511428:C:T Identity +NM_001256850.1:c.36330C>A NP_001243779.1:p.Ser12110= NC_000002.12:178636473:G:T p.(Ser12110=) NC_000002.12:178636473:G:T p.(Ser12110=) NC_000002.12:178636473:G:T Identity +NM_001148.6:c.9039A>C NP_001139.3:p.Ser3013= NC_000004.12:113357656:A:C p.(Ser3013=) NC_000004.12:113357656:A:C p.(Ser3013=) NC_000004.12:113357656:A:C Identity +NM_001378454.1:c.12481C>T NP_001365383.1:p.Leu4161= NC_000002.12:73609585:C:T p.(Leu4161=) NC_000002.12:73609585:C:T p.(Leu4161=) NC_000002.12:73609585:C:T Identity +NM_139056.4:c.1822_1823del NP_620687.2:p.Ser607_His608insTer NC_000005.10:5232487:CA: p.(His608Ter) NC_000005.10:5232487:CA: p.(His608Ter) NC_000005.10:5232487:CA: Analogous +NM_001304815.1:c.2131_2150del20insACGAT NP_001291744.1:p.Pro711_Glu717delinsThrMet NC_000019.10:42273913:CCTGGGCGACGGAAGACAGA:ACGAT ERR:Data provider error: ValueError: Transcript NM_001304815.1 not found ERR:Data provider error: ValueError: Transcript NM_001304815.1 not found ERR:AlignmentMapper(tx_ac=NM_001304815.1, alt_ac=NM_001304815.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001304815.1, alt_ac=NM_001304815.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001304815.1 not found +NM_003107.3:c.817_834dup NP_003098.1:p.Ser278_Ala279insSerAlaAlaSerAlaSer NC_000006.12:21595344:GCCTCCTCGGCAGCCTCGGCCTCC:GCCTCCTCGGCAGCCTCGGCCTCCTCGGCAGCCTCGGCCTCC p.(Ser273_Ser278dup) NC_000006.12:21595344:GCCTCCTCGGCAGCCTCGGCCTCC:GCCTCCTCGGCAGCCTCGGCCTCCTCGGCAGCCTCGGCCTCC p.(Ser273_Ser278dup) ERR:SPDI Analogous +NM_022356.4:c.2209T>C NP_071751.3:p.Ter737Arg NC_000001.11:42746698:A:G p.(Ter737ArgextTer9) NC_000001.11:42746698:A:G p.(Ter737ArgextTer9) NC_000001.11:42746698:A:G Analogous +NM_001256324.2:c.5184G>C NP_001243253.1:p.Leu1728= NC_000017.11:50618058:G:C p.(Leu1728=) NC_000017.11:50618058:G:C p.(Leu1728=) NC_000017.11:50618058:G:C Identity +NM_080473.5:c.405G>T NP_536721.1:p.Gly135= NC_000020.11:62475116:C:A p.(Gly135=) NC_000020.11:62475116:C:A p.(Gly135=) NC_000020.11:62475116:C:A Identity +NM_001170961.2:c.3828T>G NP_001164432.1:p.Val1276= NC_000023.11:131274144:A:C p.(Val1276=) NC_000023.11:131274144:A:C p.(Val1276=) NC_000023.11:131274144:A:C Identity +NM_001039375.3:c.345C>T NP_001034464.1:p.Cys115= NC_000020.11:13793176:C:T p.(Cys115=) NC_000020.11:13793176:C:T p.(Cys115=) NC_000020.11:13793176:C:T Identity +NM_001256850.1:c.20238G>A NP_001243779.1:p.Leu6746= NC_000002.12:178724069:C:T p.(Leu6746=) NC_000002.12:178724069:C:T p.(Leu6746=) NC_000002.12:178724069:C:T Identity +NM_003334.4:c.117C>T NP_003325.2:p.Asn39= NC_000023.11:47198918:C:T p.(Asn39=) NC_000023.11:47198918:C:T p.(Asn39=) NC_000023.11:47198918:C:T Identity +NM_000041.4:c.480_488del NP_000032.1:p.159LRK[1] NC_000019.10:44908770:CTGCGCAAGCTGCG:CTGCG p.(Leu162_Lys164del) NC_000019.10:44908770:CTGCGCAAGCTGCG:CTGCG p.(Leu162_Lys164del) NC_000019.10:44908775:CAAGCTGCG: Analogous +NM_001346813.1:c.1379_1393dup NP_001333742.1:p.Ala464_Gly465insAlaGlyAlaAlaAla NC_000006.12:156779296:GGCGGCGGCGGCGGGGGCGGCGGCGG:GGCGGCGGCGGCGGGGGCGGCGGCGGCGGGGGCGGCGGCGG ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000046.5:c.76CTG[7] NP_000037.2:p.Leu32_Ala33insLeuLeu NC_000005.10:78985158:CAGCAGCAGCAGCAGC:CAGCAGCAGCAGCAGCAGCAGC p.(Leu31_Leu32dup) NC_000005.10:78985172:G:CAGCAGCAGCAGCAGCAGCAG ERR:Parse ERR:Parse Analogous +NM_001286075.2:c.1335C>A NP_001273004.1:p.Pro445= NC_000016.10:28898396:C:A p.(Pro445=) NC_000016.10:28898396:C:A p.(Pro445=) NC_000016.10:28898396:C:A Identity +NM_000068.4:c.4143C>T NP_000059.3:p.Phe1381= NC_000019.10:13261568:G:A p.(Phe1381=) NC_000019.10:13261568:G:A p.(Phe1381=) NC_000019.10:13261568:G:A Identity +NM_000093.5:c.1671G>A NP_000084.3:p.Leu557= NC_000009.12:134752596:G:A p.(Leu557=) NC_000009.12:134752596:G:A p.(Leu557=) NC_000009.12:134752596:G:A Identity +NM_001363711.2:c.3240C>T NP_001350640.1:p.Ile1080= NC_000015.10:45099836:G:A p.(Ile1080=) NC_000015.10:45099836:G:A p.(Ile1080=) NC_000015.10:45099836:G:A Identity +NM_001362843.2:c.5624CAG[3] NP_001349772.1:p.Ala1876_Gly1877insAla NC_000022.11:41177411:GCAGCAG:GCAGCAGCAG p.(Ala1876dup) NC_000022.11:41177412:C:CAGCAGCAG ERR:Parse ERR:Parse Analogous +NM_004463.3:c.486C>A NP_004454.2:p.Pro162= NC_000023.11:54470755:G:T p.(Pro162=) NC_000023.11:54470755:G:T p.(Pro162=) NC_000023.11:54470755:G:T Identity +NM_001368395.3:c.741G>A NP_001355324.1:p.Leu247= NC_000023.11:12686152:G:A p.(Leu247=) NC_000023.11:12686152:G:A p.(Leu247=) NC_000023.11:12686152:G:A Identity +NM_001127392.3:c.1515G>T NP_001120864.1:p.Val505= NC_000011.10:61776801:G:T p.(Val505=) NC_000011.10:61776801:G:T p.(Val505=) NC_000011.10:61776801:G:T Identity +NM_001042681.2:c.4307_4318del NP_001036146.1:p.Leu1436_His1439del NC_000001.11:8358216:GGTGGAGGTGGAGGTGG:GGTGG p.(Leu1436_His1439del) NC_000001.11:8358216:GGTGGAGGTGGAGGTGG:GGTGG p.(Leu1436_His1439del) NC_000001.11:8358216:GGTGGAGGTGGA: Identity +NM_001113491.2:c.366C>T NP_001106963.1:p.Ala122= NC_000017.11:77402347:C:T p.(Ala122=) NC_000017.11:77402347:C:T p.(Ala122=) NC_000017.11:77402347:C:T Identity +NM_001318360.2:c.233_237delinsGG NP_001305289.1:p.Asp78_Asp79delinsGly NC_000009.12:108919322:GTCAT:CC p.(Asp78_Asp79delinsGly) NC_000009.12:108919322:GTCAT:CC p.(Asp78_Asp79delinsGly) NC_000009.12:108919322:GTCAT:CC Identity +NM_001142805.2:c.912G>A NP_001136277.1:p.Gln304= NC_000023.11:153693174:G:A p.(Gln304=) NC_000023.11:153693174:G:A p.(Gln304=) NC_000023.11:153693174:G:A Identity +NM_001130867.2:c.921C>T NP_001124339.1:p.Gly307= NC_000019.10:45363867:G:A p.(Gly307=) NC_000019.10:45363867:G:A p.(Gly307=) NC_000019.10:45363867:G:A Identity +NM_000400.4:c.1443C>T NP_000391.1:p.Phe481= NC_000019.10:45357305:G:A p.(Phe481=) NC_000019.10:45357305:G:A p.(Phe481=) NC_000019.10:45357305:G:A Identity +NM_198578.4:c.3318A>G NP_940980.4:p.Val1106= NC_000012.12:40298463:A:G p.(Val1106=) NC_000012.12:40298463:A:G p.(Val1106=) NC_000012.12:40298463:A:G Identity +NM_198578.4:c.3147A>T NP_940980.4:p.Ser1049= NC_000012.12:40298292:A:T p.(Ser1049=) NC_000012.12:40298292:A:T p.(Ser1049=) NC_000012.12:40298292:A:T Identity +NM_001379200.1:c.633G>A NP_001366129.1:p.Lys211= NC_000022.11:19764247:G:A p.(Lys211=) NC_000022.11:19764247:G:A p.(Lys211=) NC_000022.11:19764247:G:A Identity +NM_006231.4:c.3816C>A NP_006222.2:p.Leu1272= NC_000012.12:132649494:G:T p.(Leu1272=) NC_000012.12:132649494:G:T p.(Leu1272=) NC_000012.12:132649494:G:T Identity +NM_001005476.4:c.2601C>G NP_001005476.1:p.Ala867= NC_000002.12:158666435:C:G p.(Ala867=) NC_000002.12:158666435:C:G p.(Ala867=) NC_000002.12:158666435:C:G Identity +NM_000257.4:c.4863C>T NP_000248.2:p.Asp1621= NC_000014.9:23416093:G:A p.(Asp1621=) NC_000014.9:23416093:G:A p.(Asp1621=) NC_000014.9:23416093:G:A Identity +NM_003924.4:c.828C>A NP_003915.2:p.Gly276= NC_000004.12:41745923:G:T p.(Gly276=) NC_000004.12:41745923:G:T p.(Gly276=) NC_000004.12:41745923:G:T Identity +NM_001411020.1:c.3522A>G NP_001397949.1:p.Pro1174= NC_000014.9:50118721:T:C p.(Pro1174=) NC_000014.9:50118721:T:C p.(Pro1174=) NC_000014.9:50118721:T:C Identity +NM_001999.4:c.2892C>T NP_001990.2:p.Gly964= NC_000005.10:128349443:G:A p.(Gly964=) NC_000005.10:128349443:G:A p.(Gly964=) NC_000005.10:128349443:G:A Identity +NM_001999.4:c.7440C>T NP_001990.2:p.Tyr2480= NC_000005.10:128277910:G:A p.(Tyr2480=) NC_000005.10:128277910:G:A p.(Tyr2480=) NC_000005.10:128277910:G:A Identity +NM_001999.4:c.787C>A NP_001990.2:p.Arg263= NC_000005.10:128464762:G:T p.(Arg263=) NC_000005.10:128464762:G:T p.(Arg263=) NC_000005.10:128464762:G:T Identity +NM_001195227.2:c.924G>A NP_001182156.1:p.Ala308= NC_000019.10:49171642:G:A p.(Ala308=) NC_000019.10:49171642:G:A p.(Ala308=) NC_000019.10:49171642:G:A Identity +NM_001365951.3:c.3417G>A NP_001352880.1:p.Gln1139= NC_000001.11:10337527:G:A p.(Gln1139=) NC_000001.11:10337527:G:A p.(Gln1139=) NC_000001.11:10337527:G:A Identity +NM_001365951.3:c.1332T>A NP_001352880.1:p.Ser444= NC_000001.11:10282430:T:A p.(Ser444=) NC_000001.11:10282430:T:A p.(Ser444=) NC_000001.11:10282430:T:A Identity +NM_001293306.2:c.5232T>C NP_001280235.2:p.Tyr1744= NC_000003.12:38697984:A:G p.(Tyr1744=) NC_000003.12:38697984:A:G p.(Tyr1744=) NC_000003.12:38697984:A:G Identity +NM_199420.4:c.7395G>A NP_955452.3:p.Glu2465= NC_000003.12:121436269:C:T p.(Glu2465=) NC_000003.12:121436269:C:T p.(Glu2465=) NC_000003.12:121436269:C:T Identity +NM_001367624.2:c.11241C>A NP_001354553.1:p.Gly3747= NC_000016.10:88438710:C:A p.(Gly3747=) NC_000016.10:88438710:C:A p.(Gly3747=) NC_000016.10:88438710:C:A Identity +NM_199420.4:c.669C>T NP_955452.3:p.Asp223= NC_000003.12:121537170:G:A p.(Asp223=) NC_000003.12:121537170:G:A p.(Asp223=) NC_000003.12:121537170:G:A Identity +NM_000264.5:c.1731A>C NP_000255.2:p.Ala577= NC_000009.12:95469928:T:G p.(Ala577=) NC_000009.12:95469928:T:G p.(Ala577=) NC_000009.12:95469928:T:G Identity +NM_001379277.1:c.3798T>C NP_001366206.1:p.Ala1266= NC_000007.14:92086355:T:C p.(Ala1266=) NC_000007.14:92086355:T:C p.(Ala1266=) NC_000007.14:92086355:T:C Identity +NM_001081640.2:c.1551C>G NP_001075109.1:p.Gly517= NC_000008.11:47934036:G:C p.(Gly517=) NC_000008.11:47934036:G:C p.(Gly517=) NC_000008.11:47934036:G:C Identity +NM_001098623.2:c.17220C>T NP_001092093.2:p.Ile5740= NC_000001.11:228338987:C:T p.(Ile5740=) NC_000001.11:228338987:C:T p.(Ile5740=) NC_000001.11:228338987:C:T Identity +NM_001098623.2:c.6399C>T NP_001092093.2:p.Leu2133= NC_000001.11:228276627:C:T p.(Leu2133=) NC_000001.11:228276627:C:T p.(Leu2133=) NC_000001.11:228276627:C:T Identity +NM_001098623.2:c.7071C>T NP_001092093.2:p.Asp2357= NC_000001.11:228278899:C:T p.(Asp2357=) NC_000001.11:228278899:C:T p.(Asp2357=) NC_000001.11:228278899:C:T Identity +NM_001098623.2:c.14634G>A NP_001092093.2:p.Lys4878= NC_000001.11:228321474:G:A p.(Lys4878=) NC_000001.11:228321474:G:A p.(Lys4878=) NC_000001.11:228321474:G:A Identity +NM_001430.5:c.1146G>A NP_001421.2:p.Val382= NC_000002.12:46376649:G:A p.(Val382=) NC_000002.12:46376649:G:A p.(Val382=) NC_000002.12:46376649:G:A Identity +NM_001410772.1:c.2019A>C NP_001397701.1:p.Leu673= NC_000003.12:52402404:T:G p.(Leu673=) NC_000003.12:52402404:T:G p.(Leu673=) NC_000003.12:52402404:T:G Identity +NM_000903.3:c.327C>A NP_000894.1:p.Val109= NC_000016.10:69715053:G:T p.(Val109=) NC_000016.10:69715053:G:T p.(Val109=) NC_000016.10:69715053:G:T Identity +NM_015450.3:c.54G>A NP_056265.2:p.Lys18= NC_000007.14:124892335:C:T p.(Lys18=) NC_000007.14:124892335:C:T p.(Lys18=) NC_000007.14:124892335:C:T Identity +NM_000136.3:c.660T>C NP_000127.2:p.Phe220= NC_000009.12:95149948:A:G p.(Phe220=) NC_000009.12:95149948:A:G p.(Phe220=) NC_000009.12:95149948:A:G Identity +NM_002907.4:c.558G>T NP_002898.2:p.Leu186= NC_000012.12:21483517:C:A p.(Leu186=) NC_000012.12:21483517:C:A p.(Leu186=) NC_000012.12:21483517:C:A Identity +NM_003373.4:c.1857G>C NP_003364.1:p.Ala619= NC_000010.11:74097316:G:C p.(Ala619=) NC_000010.11:74097316:G:C p.(Ala619=) NC_000010.11:74097316:G:C Identity +NM_001365276.2:c.6915C>G NP_001352205.1:p.Arg2305= NC_000006.12:32062409:G:C p.(Arg2305=) NC_000006.12:32062409:G:C p.(Arg2305=) NC_000006.12:32062409:G:C Identity +NM_001365276.2:c.2055C>T NP_001352205.1:p.Ala685= NC_000006.12:32095797:G:A p.(Ala685=) NC_000006.12:32095797:G:A p.(Ala685=) NC_000006.12:32095797:G:A Identity +NM_001278616.2:c.810A>G NP_001265545.1:p.Lys270= NC_000002.12:110666349:T:C p.(Lys270=) NC_000002.12:110666349:T:C p.(Lys270=) NC_000002.12:110666349:T:C Identity +NM_053046.4:c.1215G>A NP_444274.1:p.Thr405= NC_000019.10:40807854:G:A p.(Thr405=) NC_000019.10:40807854:G:A p.(Thr405=) NC_000019.10:40807854:G:A Identity +NM_000384.3:c.9780G>A NP_000375.3:p.Val3260= NC_000002.12:21007087:C:T p.(Val3260=) NC_000002.12:21007087:C:T p.(Val3260=) NC_000002.12:21007087:C:T Identity +NM_000384.3:c.4635C>G NP_000375.3:p.Thr1545= NC_000002.12:21012232:G:C p.(Thr1545=) NC_000002.12:21012232:G:C p.(Thr1545=) NC_000002.12:21012232:G:C Identity +NM_000388.4:c.2175C>T NP_000379.3:p.Phe725= NC_000003.12:122284128:C:T p.(Phe725=) NC_000003.12:122284128:C:T p.(Phe725=) NC_000003.12:122284128:C:T Identity +NM_000388.4:c.1446T>C NP_000379.3:p.Cys482= NC_000003.12:122275879:T:C p.(Cys482=) NC_000003.12:122275879:T:C p.(Cys482=) NC_000003.12:122275879:T:C Identity +NM_001029835.2:c.1032C>T NP_001025006.1:p.His344= NC_000007.14:45074322:C:T p.(His344=) NC_000007.14:45074322:C:T p.(His344=) NC_000007.14:45074322:C:T Identity +NM_001195573.1:c.3744C>T NP_001182502.1:p.Asn1248= NC_000014.9:95103651:G:A p.(Asn1248=) NC_000014.9:95103651:G:A p.(Asn1248=) NC_000014.9:95103651:G:A Identity +NM_001256850.1:c.66222T>C NP_001243779.1:p.Val22074= NC_000002.12:178574986:A:G p.(Val22074=) NC_000002.12:178574986:A:G p.(Val22074=) NC_000002.12:178574986:A:G Identity +NM_001256850.1:c.85554C>G NP_001243779.1:p.Pro28518= NC_000002.12:178552422:G:C p.(Pro28518=) NC_000002.12:178552422:G:C p.(Pro28518=) NC_000002.12:178552422:G:C Identity +NM_001256850.1:c.46476T>C NP_001243779.1:p.Ile15492= NC_000002.12:178610126:A:G p.(Ile15492=) NC_000002.12:178610126:A:G p.(Ile15492=) NC_000002.12:178610126:A:G Identity +NM_001256850.1:c.93900T>G NP_001243779.1:p.Thr31300= NC_000002.12:178539111:A:C p.(Thr31300=) NC_000002.12:178539111:A:C p.(Thr31300=) NC_000002.12:178539111:A:C Identity +NM_001256850.1:c.6810G>A NP_001243779.1:p.Val2270= NC_000002.12:178774453:C:T p.(Val2270=) NC_000002.12:178774453:C:T p.(Val2270=) NC_000002.12:178774453:C:T Identity +NM_017617.5:c.5907G>T NP_060087.3:p.Val1969= NC_000009.12:136500578:C:A p.(Val1969=) NC_000009.12:136500578:C:A p.(Val1969=) NC_000009.12:136500578:C:A Identity +NM_017617.5:c.4797G>C NP_060087.3:p.Val1599= NC_000009.12:136504893:C:G p.(Val1599=) NC_000009.12:136504893:C:G p.(Val1599=) NC_000009.12:136504893:C:G Identity +NM_000400.4:c.2082C>A NP_000391.1:p.Pro694= NC_000019.10:45352316:G:T p.(Pro694=) NC_000019.10:45352316:G:T p.(Pro694=) NC_000019.10:45352316:G:T Identity +NM_000400.4:c.2253G>A NP_000391.1:p.Lys751= NC_000019.10:45351658:C:T p.(Lys751=) NC_000019.10:45351658:C:T p.(Lys751=) NC_000019.10:45351658:C:T Identity +NM_001191322.2:c.102C>T NP_001178251.1:p.His34= NC_000015.10:32731001:C:T p.(His34=) NC_000015.10:32731001:C:T p.(His34=) NC_000015.10:32731001:C:T Identity +NM_000088.4:c.183C>T NP_000079.2:p.Cys61= NC_000017.11:50199867:G:A p.(Cys61=) NC_000017.11:50199867:G:A p.(Cys61=) NC_000017.11:50199867:G:A Identity +NM_000038.6:c.5064T>C NP_000029.2:p.Asp1688= NC_000005.10:112840657:T:C p.(Asp1688=) NC_000005.10:112840657:T:C p.(Asp1688=) NC_000005.10:112840657:T:C Identity +NM_000143.4:c.435A>T NP_000134.2:p.Ser145= NC_000001.11:241512086:T:A p.(Ser145=) NC_000001.11:241512086:T:A p.(Ser145=) NC_000001.11:241512086:T:A Identity +NM_001294332.2:c.135T>C NP_001281261.1:p.Ala45= NC_000005.10:223552:T:C p.(Ala45=) NC_000005.10:223552:T:C p.(Ala45=) NC_000005.10:223552:T:C Identity +NM_001294332.2:c.843A>G NP_001281261.1:p.Arg281= NC_000005.10:233567:A:G p.(Arg281=) NC_000005.10:233567:A:G p.(Arg281=) NC_000005.10:233567:A:G Identity +NM_003072.5:c.1200G>T NP_003063.2:p.Ala400= NC_000019.10:10989397:G:T p.(Ala400=) NC_000019.10:10989397:G:T p.(Ala400=) NC_000019.10:10989397:G:T Identity +NM_000432.4:c.144T>C NP_000423.2:p.Asp48= NC_000012.12:110915739:A:G p.(Asp48=) NC_000012.12:110915739:A:G p.(Asp48=) NC_000012.12:110915739:A:G Identity +NM_000335.5:c.4398T>G NP_000326.2:p.Gly1466= NC_000003.12:38556476:A:C p.(Gly1466=) NC_000003.12:38556476:A:C p.(Gly1466=) NC_000003.12:38556476:A:C Identity +NM_001081640.2:c.24G>C NP_001075109.1:p.Val8= NC_000008.11:47960102:C:G p.(Val8=) NC_000008.11:47960102:C:G p.(Val8=) NC_000008.11:47960102:C:G Identity +NM_198578.4:c.7248C>G NP_940980.4:p.Thr2416= NC_000012.12:40364907:C:G p.(Thr2416=) NC_000012.12:40364907:C:G p.(Thr2416=) NC_000012.12:40364907:C:G Identity +NM_001008844.3:c.255A>T NP_001008844.1:p.Ala85= NC_000006.12:7555801:A:T p.(Ala85=) NC_000006.12:7555801:A:T p.(Ala85=) NC_000006.12:7555801:A:T Identity +NM_006218.4:c.1890G>A NP_006209.2:p.Gln630= NC_000003.12:179219713:G:A p.(Gln630=) NC_000003.12:179219713:G:A p.(Gln630=) NC_000003.12:179219713:G:A Identity +NM_000138.5:c.165A>T NP_000129.3:p.Gly55= NC_000015.10:48613091:T:A p.(Gly55=) NC_000015.10:48613091:T:A p.(Gly55=) NC_000015.10:48613091:T:A Identity +NM_001382394.1:c.600A>G NP_001369323.1:p.Ala200= NC_000002.12:39054712:T:C p.(Ala200=) NC_000002.12:39054712:T:C p.(Ala200=) NC_000002.12:39054712:T:C Identity +NM_001321307.1:c.1581T>G NP_001308236.1:p.Ser527= NC_000011.10:108173402:A:C p.(Ser527=) NC_000011.10:108173402:A:C p.(Ser527=) NC_000011.10:108173402:A:C Identity +NM_005585.5:c.267C>A NP_005576.3:p.Pro89= NC_000015.10:66703524:C:A p.(Pro89=) NC_000015.10:66703524:C:A p.(Pro89=) NC_000015.10:66703524:C:A Identity +NM_005585.5:c.735C>T NP_005576.3:p.Cys245= NC_000015.10:66703992:C:T p.(Cys245=) NC_000015.10:66703992:C:T p.(Cys245=) NC_000015.10:66703992:C:T Identity +NM_001369786.1:c.168C>T NP_001356715.1:p.Leu56= NC_000012.12:25227355:G:A p.(Leu56=) NC_000012.12:25227355:G:A p.(Leu56=) NC_000012.12:25227355:G:A Identity +NM_001353229.2:c.621G>T NP_001340158.1:p.Leu207= NC_000017.11:17223972:C:A p.(Leu207=) NC_000017.11:17223972:C:A p.(Leu207=) NC_000017.11:17223972:C:A Identity +NM_001256850.1:c.9549C>A NP_001243779.1:p.Gly3183= NC_000002.12:178766534:G:T p.(Gly3183=) NC_000002.12:178766534:G:T p.(Gly3183=) NC_000002.12:178766534:G:T Identity +NM_001276289.2:c.984A>C NP_001263218.1:p.Ala328= NC_000017.11:68530286:A:C p.(Ala328=) NC_000017.11:68530286:A:C p.(Ala328=) NC_000017.11:68530286:A:C Identity +NM_000335.5:c.5037T>C NP_000326.2:p.Ala1679= NC_000003.12:38551331:A:G p.(Ala1679=) NC_000003.12:38551331:A:G p.(Ala1679=) NC_000003.12:38551331:A:G Identity +NM_198578.4:c.1275C>G NP_940980.4:p.Leu425= NC_000012.12:40253002:C:G p.(Leu425=) NC_000012.12:40253002:C:G p.(Leu425=) NC_000012.12:40253002:C:G Identity +NM_198578.4:c.1653C>T NP_940980.4:p.Asn551= NC_000012.12:40263897:C:T p.(Asn551=) NC_000012.12:40263897:C:T p.(Asn551=) NC_000012.12:40263897:C:T Identity +NM_198578.4:c.7194A>G NP_940980.4:p.Val2398= NC_000012.12:40364853:A:G p.(Val2398=) NC_000012.12:40364853:A:G p.(Val2398=) NC_000012.12:40364853:A:G Identity +NM_001282386.1:c.73T>C NP_001269315.1:p.Leu25= NC_000002.12:208251478:A:G p.(Leu25=) NC_000002.12:208251478:A:G p.(Leu25=) NC_000002.12:208251478:A:G Identity +NM_001317184.2:c.654G>A NP_001304113.1:p.Glu218= NC_000016.10:68808814:G:A p.(Glu218=) NC_000016.10:68808814:G:A p.(Glu218=) NC_000016.10:68808814:G:A Identity +NM_001184.4:c.1437C>T NP_001175.2:p.Tyr479= NC_000003.12:142560366:G:A p.(Tyr479=) NC_000003.12:142560366:G:A p.(Tyr479=) NC_000003.12:142560366:G:A Identity +NM_001321307.1:c.3756A>G NP_001308236.1:p.Glu1252= NC_000011.10:108161350:T:C p.(Glu1252=) NC_000011.10:108161350:T:C p.(Glu1252=) NC_000011.10:108161350:T:C Identity +NM_012186.3:c.798C>G NP_036318.1:p.Pro266= NC_000001.11:47417112:C:G p.(Pro266=) NC_000001.11:47417112:C:G p.(Pro266=) NC_000001.11:47417112:C:G Identity +NM_001166108.2:c.1200A>G NP_001159580.1:p.Ser400= NC_000004.12:168683042:A:G p.(Ser400=) NC_000004.12:168683042:A:G p.(Ser400=) NC_000004.12:168683042:A:G Identity +NM_199420.4:c.18G>T NP_955452.3:p.Arg6= NC_000003.12:121545859:C:A p.(Arg6=) NC_000003.12:121545859:C:A p.(Arg6=) NC_000003.12:121545859:C:A Identity +NM_199420.4:c.5403C>T NP_955452.3:p.Asp1801= NC_000003.12:121487527:G:A p.(Asp1801=) NC_000003.12:121487527:G:A p.(Asp1801=) NC_000003.12:121487527:G:A Identity +NM_000393.5:c.2997G>C NP_000384.2:p.Gly999= NC_000002.12:189050610:C:G p.(Gly999=) NC_000002.12:189050610:C:G p.(Gly999=) NC_000002.12:189050610:C:G Identity +NM_000260.4:c.4413C>T NP_000251.3:p.Ser1471= NC_000011.10:77197569:C:T p.(Ser1471=) NC_000011.10:77197569:C:T p.(Ser1471=) NC_000011.10:77197569:C:T Identity +NM_001193455.2:c.857_859delinsTTA NP_001180384.1:p.Cys286_Ser287delinsPheThr NC_000005.10:6616783:AAC:TAA p.(Cys286_Ser287delinsPheThr) NC_000005.10:6616783:AAC:TAA p.(Cys286_Ser287delinsPheThr) NC_000005.10:6616783:AAC:TAA Identity +NM_000310.4:c.920G>T NP_000301.1:p.Ter307Leu NC_000001.11:40074061:C:A p.(Ter307LeuextTer7) NC_000001.11:40074061:C:A p.(Ter307LeuextTer7) NC_000001.11:40074061:C:A Analogous +NM_001347997.2:c.219A>G NP_001334926.1:p.Ser73= NC_000009.12:106923601:A:G p.(Ser73=) NC_000009.12:106923601:A:G p.(Ser73=) NC_000009.12:106923601:A:G Identity +NM_001256850.1:c.60765T>A NP_001243779.1:p.Ser20255= NC_000002.12:178583114:A:T p.(Ser20255=) NC_000002.12:178583114:A:T p.(Ser20255=) NC_000002.12:178583114:A:T Identity +NM_001008844.3:c.6657C>T NP_001008844.1:p.Asn2219= NC_000006.12:7585715:C:T p.(Asn2219=) NC_000006.12:7585715:C:T p.(Asn2219=) NC_000006.12:7585715:C:T Identity +NM_000157.4:c.702G>T NP_000148.2:p.Gly234= NC_000001.11:155238192:C:A p.(Gly234=) NC_000001.11:155238192:C:A p.(Gly234=) NC_000001.11:155238192:C:A Identity +NM_001285439.2:c.2898G>A NP_001272368.1:p.Gly966= NC_000005.10:38952424:C:T p.(Gly966=) NC_000005.10:38952424:C:T p.(Gly966=) NC_000005.10:38952424:C:T Identity +NM_001142548.2:c.2079C>T NP_001136020.1:p.Pro693= NC_000001.11:46278116:C:T p.(Pro693=) NC_000001.11:46278116:C:T p.(Pro693=) NC_000001.11:46278116:C:T Identity +NM_001166108.2:c.2301C>T NP_001159580.1:p.Tyr767= NC_000004.12:168898542:C:T p.(Tyr767=) NC_000004.12:168898542:C:T p.(Tyr767=) NC_000004.12:168898542:C:T Identity +NM_000059.4:c.7437T>C NP_000050.3:p.Asp2479= NC_000013.11:32356428:T:C p.(Asp2479=) NC_000013.11:32356428:T:C p.(Asp2479=) NC_000013.11:32356428:T:C Identity +NM_000143.4:c.1371A>G NP_000134.2:p.Thr457= NC_000001.11:241500455:T:C p.(Thr457=) NC_000001.11:241500455:T:C p.(Thr457=) NC_000001.11:241500455:T:C Identity +NM_001023.4:c.276C>T NP_001014.1:p.His92= NC_000008.11:56073173:G:A p.(His92=) NC_000008.11:56073173:G:A p.(His92=) NC_000008.11:56073173:G:A Identity +NM_001040108.2:c.4092G>T NP_001035197.1:p.Gly1364= NC_000014.9:75018978:C:A p.(Gly1364=) NC_000014.9:75018978:C:A p.(Gly1364=) NC_000014.9:75018978:C:A Identity +NM_199420.4:c.7545A>T NP_955452.3:p.Gly2515= NC_000003.12:121433031:T:A p.(Gly2515=) NC_000003.12:121433031:T:A p.(Gly2515=) NC_000003.12:121433031:T:A Identity +NM_001081640.2:c.2397C>T NP_001075109.1:p.Tyr799= NC_000008.11:47927215:G:A p.(Tyr799=) NC_000008.11:47927215:G:A p.(Tyr799=) NC_000008.11:47927215:G:A Identity +NM_001098623.2:c.8169G>A NP_001092093.2:p.Glu2723= NC_000001.11:228280767:G:A p.(Glu2723=) NC_000001.11:228280767:G:A p.(Glu2723=) NC_000001.11:228280767:G:A Identity +NM_000214.3:c.1872A>T NP_000205.1:p.Thr624= NC_000020.11:10646951:T:A p.(Thr624=) NC_000020.11:10646951:T:A p.(Thr624=) NC_000020.11:10646951:T:A Identity +NM_001184.4:c.4146A>G NP_001175.2:p.Thr1382= NC_000003.12:142523998:T:C p.(Thr1382=) NC_000003.12:142523998:T:C p.(Thr1382=) NC_000003.12:142523998:T:C Identity +NM_001184.4:c.6294T>C NP_001175.2:p.Gly2098= NC_000003.12:142470110:A:G p.(Gly2098=) NC_000003.12:142470110:A:G p.(Gly2098=) NC_000003.12:142470110:A:G Identity +NM_001130144.3:c.3195T>A NP_001123616.1:p.Pro1065= NC_000011.10:65540293:A:T p.(Pro1065=) NC_000011.10:65540293:A:T p.(Pro1065=) NC_000011.10:65540293:A:T Identity +NM_001142548.2:c.33C>T NP_001136020.1:p.Ala11= NC_000001.11:46248540:C:T p.(Ala11=) NC_000001.11:46248540:C:T p.(Ala11=) NC_000001.11:46248540:C:T Identity +NM_000724.4:c.960G>T NP_000715.2:p.Ala320= NC_000010.11:18534145:G:T p.(Ala320=) NC_000010.11:18534145:G:T p.(Ala320=) NC_000010.11:18534145:G:T Identity +NM_006231.4:c.4665T>G NP_006222.2:p.Val1555= NC_000012.12:132642882:A:C p.(Val1555=) NC_000012.12:132642882:A:C p.(Val1555=) NC_000012.12:132642882:A:C Identity +NM_001007793.3:c.426C>G NP_001007794.1:p.Thr142= NC_000010.11:123160414:C:G p.(Thr142=) NC_000010.11:123160414:C:G p.(Thr142=) NC_000010.11:123160414:C:G Identity +NM_002432.3:c.1122G>A NP_002423.1:p.Leu374= NC_000001.11:158847861:G:A p.(Leu374=) NC_000001.11:158847861:G:A p.(Leu374=) NC_000001.11:158847861:G:A Identity +NM_001411020.1:c.1269A>G NP_001397949.1:p.Glu423= NC_000014.9:50159914:T:C p.(Glu423=) NC_000014.9:50159914:T:C p.(Glu423=) NC_000014.9:50159914:T:C Identity +NM_001999.4:c.774T>G NP_001990.2:p.Pro258= NC_000005.10:128464775:A:C p.(Pro258=) NC_000005.10:128464775:A:C p.(Pro258=) NC_000005.10:128464775:A:C Identity +NM_001324006.1:c.1191C>G NP_001310935.1:p.Thr397= NC_000005.10:138934007:C:G p.(Thr397=) NC_000005.10:138934007:C:G p.(Thr397=) NC_000005.10:138934007:C:G Identity +NM_001346599.2:c.300T>C NP_001333528.1:p.Tyr100= NC_000007.14:105546927:T:C p.(Tyr100=) NC_000007.14:105546927:T:C p.(Tyr100=) NC_000007.14:105546927:T:C Identity +NM_001346599.2:c.126T>C NP_001333528.1:p.Phe42= NC_000007.14:105542493:T:C p.(Phe42=) NC_000007.14:105542493:T:C p.(Phe42=) NC_000007.14:105542493:T:C Identity +NM_018975.4:c.381G>T NP_061848.2:p.Pro127= NC_000016.10:75648262:G:T p.(Pro127=) NC_000016.10:75648262:G:T p.(Pro127=) NC_000016.10:75648262:G:T Identity +NM_001040108.2:c.1179A>C NP_001035197.1:p.Ala393= NC_000014.9:75048476:T:G p.(Ala393=) NC_000014.9:75048476:T:G p.(Ala393=) NC_000014.9:75048476:T:G Identity +NM_001365951.3:c.4818C>T NP_001352880.1:p.Asp1606= NC_000001.11:10368531:C:T p.(Asp1606=) NC_000001.11:10368531:C:T p.(Asp1606=) NC_000001.11:10368531:C:T Identity +NM_020774.4:c.1296T>C NP_065825.1:p.Asn432= NC_000018.10:21799898:T:C p.(Asn432=) NC_000018.10:21799898:T:C p.(Asn432=) NC_000018.10:21799898:T:C Identity +NM_001367624.2:c.3834C>A NP_001354553.1:p.Pro1278= NC_000016.10:88431303:C:A p.(Pro1278=) NC_000016.10:88431303:C:A p.(Pro1278=) NC_000016.10:88431303:C:A Identity +NM_001024847.3:c.1114C>T NP_001020018.1:p.Leu372= NC_000003.12:30672221:C:T p.(Leu372=) NC_000003.12:30672221:C:T p.(Leu372=) NC_000003.12:30672221:C:T Identity +NM_001379277.1:c.4989A>G NP_001366206.1:p.Leu1663= NC_000007.14:92097302:A:G p.(Leu1663=) NC_000007.14:92097302:A:G p.(Leu1663=) NC_000007.14:92097302:A:G Identity +NM_001379277.1:c.3147A>G NP_001366206.1:p.Leu1049= NC_000007.14:92083510:A:G p.(Leu1049=) NC_000007.14:92083510:A:G p.(Leu1049=) NC_000007.14:92083510:A:G Identity +NM_001081640.2:c.6081C>T NP_001075109.1:p.Ser2027= NC_000008.11:47859736:G:A p.(Ser2027=) NC_000008.11:47859736:G:A p.(Ser2027=) NC_000008.11:47859736:G:A Identity +NM_001081640.2:c.7506A>G NP_001075109.1:p.Ala2502= NC_000008.11:47839194:T:C p.(Ala2502=) NC_000008.11:47839194:T:C p.(Ala2502=) NC_000008.11:47839194:T:C Identity +NM_001098623.2:c.18216C>T NP_001092093.2:p.Leu6072= NC_000001.11:228349956:C:T p.(Leu6072=) NC_000001.11:228349956:C:T p.(Leu6072=) NC_000001.11:228349956:C:T Identity +NM_001098623.2:c.18081G>T NP_001092093.2:p.Leu6027= NC_000001.11:228342164:G:T p.(Leu6027=) NC_000001.11:228342164:G:T p.(Leu6027=) NC_000001.11:228342164:G:T Identity +NM_004444.5:c.2082G>A NP_004435.3:p.Glu694= NC_000007.14:100812782:C:T p.(Glu694=) NC_000007.14:100812782:C:T p.(Glu694=) NC_000007.14:100812782:C:T Identity +NM_004444.5:c.1341C>T NP_004435.3:p.Pro447= NC_000007.14:100818600:G:A p.(Pro447=) NC_000007.14:100818600:G:A p.(Pro447=) NC_000007.14:100818600:G:A Identity +NM_024529.5:c.1480_1481dup NP_078805.3:p.Val494_Thr495insTer NC_000001.11:193249790:TGT:TGTGT p.(Thr495Ter) NC_000001.11:193249790:TGT:TGTGT p.(Thr495Ter) ERR:SPDI Analogous +NM_001148.6:c.4929T>C NP_001139.3:p.Asp1643= NC_000004.12:113353546:T:C p.(Asp1643=) NC_000004.12:113353546:T:C p.(Asp1643=) NC_000004.12:113353546:T:C Identity +NM_001148.6:c.5853A>G NP_001139.3:p.Val1951= NC_000004.12:113354470:A:G p.(Val1951=) NC_000004.12:113354470:A:G p.(Val1951=) NC_000004.12:113354470:A:G Identity +LRG_327t1:c.9477G>C LRG_327p1:p.Leu3159= NC_000004.12:113358094:G:C ERR:Data provider error: ValueError: Transcript LRG_327t1 not found ERR:Data provider error: ValueError: Transcript LRG_327t1 not found ERR:AlignmentMapper(tx_ac=LRG_327t1, alt_ac=LRG_327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_327t1, alt_ac=LRG_327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_327t1 not found +NM_001211.6:c.255A>C NP_001202.5:p.Thr85= NC_000015.10:40170551:A:C p.(Thr85=) NC_000015.10:40170551:A:C p.(Thr85=) NC_000015.10:40170551:A:C Identity +NM_001365276.2:c.2313G>T NP_001352205.1:p.Pro771= NC_000006.12:32095120:C:A p.(Pro771=) NC_000006.12:32095120:C:A p.(Pro771=) NC_000006.12:32095120:C:A Identity +NM_001365276.2:c.8736G>C NP_001352205.1:p.Leu2912= NC_000006.12:32053442:C:G p.(Leu2912=) NC_000006.12:32053442:C:G p.(Leu2912=) NC_000006.12:32053442:C:G Identity +NM_000059.4:c.4899C>T NP_000050.3:p.Ile1633= NC_000013.11:32339253:C:T p.(Ile1633=) NC_000013.11:32339253:C:T p.(Ile1633=) NC_000013.11:32339253:C:T Identity +NM_001195573.1:c.3456C>T NP_001182502.1:p.Asn1152= NC_000014.9:95103939:G:A p.(Asn1152=) NC_000014.9:95103939:G:A p.(Asn1152=) NC_000014.9:95103939:G:A Identity +NM_001195573.1:c.1566A>C NP_001182502.1:p.Val522= NC_000014.9:95116638:T:G p.(Val522=) NC_000014.9:95116638:T:G p.(Val522=) NC_000014.9:95116638:T:G Identity +NM_001256850.1:c.66384T>A NP_001243779.1:p.Thr22128= NC_000002.12:178574824:A:T p.(Thr22128=) NC_000002.12:178574824:A:T p.(Thr22128=) NC_000002.12:178574824:A:T Identity +NM_001256850.1:c.1638A>G NP_001243779.1:p.Lys546= NC_000002.12:178792095:T:C p.(Lys546=) NC_000002.12:178792095:T:C p.(Lys546=) NC_000002.12:178792095:T:C Identity +NM_004304.5:c.1542C>T NP_004295.2:p.His514= NC_000002.12:29320754:G:A p.(His514=) NC_000002.12:29320754:G:A p.(His514=) NC_000002.12:29320754:G:A Identity +NM_001308093.3:c.1290C>T NP_001295022.1:p.Ser430= NC_000008.11:11758432:C:T p.(Ser430=) NC_000008.11:11758432:C:T p.(Ser430=) NC_000008.11:11758432:C:T Identity +NM_001178133.2:c.1038C>T NP_001171604.1:p.Ser346= NC_000010.11:102615282:C:T p.(Ser346=) NC_000010.11:102615282:C:T p.(Ser346=) NC_000010.11:102615282:C:T Identity +NM_000118.4:c.720G>C NP_000109.1:p.Leu240= NC_000009.12:127825326:C:G p.(Leu240=) NC_000009.12:127825326:C:G p.(Leu240=) NC_000009.12:127825326:C:G Identity +NM_001129832.2:c.5868C>T NP_001123304.1:p.Ser1956= NC_000012.12:2688469:C:T p.(Ser1956=) NC_000012.12:2688469:C:T p.(Ser1956=) NC_000012.12:2688469:C:T Identity +NM_002471.4:c.5040C>T NP_002462.2:p.Asn1680= NC_000014.9:23386050:G:A p.(Asn1680=) NC_000014.9:23386050:G:A p.(Asn1680=) NC_000014.9:23386050:G:A Identity +NM_198578.4:c.1068A>T NP_940980.4:p.Ala356= NC_000012.12:40251340:A:T p.(Ala356=) NC_000012.12:40251340:A:T p.(Ala356=) NC_000012.12:40251340:A:T Identity +NM_198578.4:c.336T>C NP_940980.4:p.Leu112= NC_000012.12:40232371:T:C p.(Leu112=) NC_000012.12:40232371:T:C p.(Leu112=) NC_000012.12:40232371:T:C Identity +NM_198578.4:c.3051G>A NP_940980.4:p.Glu1017= NC_000012.12:40295598:G:A p.(Glu1017=) NC_000012.12:40295598:G:A p.(Glu1017=) NC_000012.12:40295598:G:A Identity +NM_198578.4:c.5608T>C NP_940980.4:p.Leu1870= NC_000012.12:40323257:T:C p.(Leu1870=) NC_000012.12:40323257:T:C p.(Leu1870=) NC_000012.12:40323257:T:C Identity +NM_198578.4:c.2061G>A NP_940980.4:p.Lys687= NC_000012.12:40278006:G:A p.(Lys687=) NC_000012.12:40278006:G:A p.(Lys687=) NC_000012.12:40278006:G:A Identity +NM_000245.4:c.2901A>G NP_000236.2:p.Glu967= NC_000007.14:116771861:A:G p.(Glu967=) NC_000007.14:116771861:A:G p.(Glu967=) NC_000007.14:116771861:A:G Identity +NM_006218.4:c.180A>G NP_006209.2:p.Gln60= NC_000003.12:179199004:A:G p.(Gln60=) NC_000003.12:179199004:A:G p.(Gln60=) NC_000003.12:179199004:A:G Identity +NM_006218.4:c.1845T>C NP_006209.2:p.Ala615= NC_000003.12:179219668:T:C p.(Ala615=) NC_000003.12:179219668:T:C p.(Ala615=) NC_000003.12:179219668:T:C Identity +NM_001184.4:c.1113T>C NP_001175.2:p.Tyr371= NC_000003.12:142562288:A:G p.(Tyr371=) NC_000003.12:142562288:A:G p.(Tyr371=) NC_000003.12:142562288:A:G Identity +NM_000492.4:c.2094G>A NP_000483.3:p.Lys698= NC_000007.14:117592260:G:A p.(Lys698=) NC_000007.14:117592260:G:A p.(Lys698=) NC_000007.14:117592260:G:A Identity +NM_001014431.2:c.366G>C NP_001014431.1:p.Ser122= NC_000014.9:104775720:C:G p.(Ser122=) NC_000014.9:104775720:C:G p.(Ser122=) NC_000014.9:104775720:C:G Identity +NM_005585.5:c.1479C>T NP_005576.3:p.Asn493= NC_000015.10:66781522:C:T p.(Asn493=) NC_000015.10:66781522:C:T p.(Asn493=) NC_000015.10:66781522:C:T Identity +NM_001035.3:c.7788T>C NP_001026.2:p.Val2596= NC_000001.11:237651464:T:C p.(Val2596=) NC_000001.11:237651464:T:C p.(Val2596=) NC_000001.11:237651464:T:C Identity +NM_000323.2:c.3105G>A NP_000314.1:p.Glu1035= NC_000010.11:43126639:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000358.3:c.1517_1518insCAAGGG NP_000349.1:p.Met506delinsIleLysGly NC_000005.10:136055786::CAAGGG p.(Met506delinsIleLysGly) NC_000005.10:136055785:T:CAAGGG p.(Met506delinsIleLysGly) NC_000005.10:136055786:TG:CAAGGG Identity +NM_001379200.1:c.1513T>A NP_001366129.1:p.Ter505Lys NC_000022.11:19766864:T:A p.(Ter505LysextTer100) NC_000022.11:19766864:T:A p.(Ter505LysextTer100) NC_000022.11:19766864:T:A Analogous +NM_001305624.1:c.90G>C NP_001292553.1:p.Ala30= NC_000002.12:47176451:C:G p.(Ala30=) NC_000002.12:47176451:C:G p.(Ala30=) NC_000002.12:47176451:C:G Identity +NM_001115113.3:c.1192_1221del NP_001108585.2:p.Asn398_Asp407del NC_000001.11:224404459:GTCATCTGGGCCACAAGCAACAAGATAGTTGTCATCTGG:GTCATCTGG p.(Asn398_Asp407del) NC_000001.11:224404459:GTCATCTGGGCCACAAGCAACAAGATAGTTGTCATCTGG:GTCATCTGG p.(Asn398_Asp407del) NC_000001.11:224404459:GTCATCTGGGCCACAAGCAACAAGATAGTT: Identity +NM_001411020.1:c.105T>C NP_001397949.1:p.His35= NC_000014.9:50204391:A:G p.(His35=) NC_000014.9:50204391:A:G p.(His35=) NC_000014.9:50204391:A:G Identity +NM_000518.5:c.276G>T NP_000509.1:p.Leu92= NC_000011.10:5226615:C:A p.(Leu92=) NC_000011.10:5226615:C:A p.(Leu92=) NC_000011.10:5226615:C:A Identity +NM_015450.3:c.265_273delinsAATCTT NP_056265.2:p.Tyr89_Lys91delinsAsnLeu NC_000007.14:124863622:CTTTTTATA:AAGATT p.(Tyr89_Lys91delinsAsnLeu) NC_000007.14:124863622:CTTTTTATA:AAGATT p.(Tyr89_Lys91delinsAsnLeu) NC_000007.14:124863622:CTTTTTATA:AAGATT Identity +NM_001346813.1:c.4407G>A NP_001333742.1:p.Arg1469= NC_000006.12:157200880:G:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000251.3:c.93C>T NP_000242.1:p.Thr31= NC_000002.12:47403283:C:T p.(Thr31=) NC_000002.12:47403283:C:T p.(Thr31=) NC_000002.12:47403283:C:T Identity +NM_001353229.2:c.332_349del NP_001340158.1:p.His111_Gln116del NC_000017.11:17226222:GCTGGGGGTGGCTGGGGTGCTGG:GCTGG p.(His111_Gln116del) NC_000017.11:17226222:GCTGGGGGTGGCTGGGGTGCTGG:GCTGG p.(His111_Gln116del) NC_000017.11:17226222:GCTGGGGGTGGCTGGGGT: Identity +NM_000492.4:c.2925A>G NP_000483.3:p.Arg975= NC_000007.14:117606689:A:G p.(Arg975=) NC_000007.14:117606689:A:G p.(Arg975=) NC_000007.14:117606689:A:G Identity +NM_001042681.2:c.4407C>T NP_001036146.1:p.Pro1469= NC_000001.11:8356178:G:A p.(Pro1469=) NC_000001.11:8356178:G:A p.(Pro1469=) NC_000001.11:8356178:G:A Identity +NM_005666.4:c.114A>G NP_005657.1:p.Lys38= NC_000001.11:196949509:A:G p.(Lys38=) NC_000001.11:196949509:A:G p.(Lys38=) NC_000001.11:196949509:A:G Identity +NM_001379141.1:c.1872G>A NP_001366070.1:p.Lys624= NC_000018.10:44951211:G:A p.(Lys624=) NC_000018.10:44951211:G:A p.(Lys624=) NC_000018.10:44951211:G:A Identity +NM_001407933.1:c.1405_1406delinsT NP_001394862.1:p.Lys468_Thr469insTer NC_000017.11:43093860:GT:A p.(Thr469IlefsTer15) NC_000017.11:43093859:TGT:TA p.(Thr469Ter) NC_000017.11:43093860:GT:A Different +NM_000187.4:c.1095_1100dup NP_000178.2:p.Thr367_Met368insSerThr NC_000003.12:120633234:GTGCTG:GTGCTGGTGCTG p.(Ser366_Thr367dup) NC_000003.12:120633234:GTGCTG:GTGCTGGTGCTG p.(Ser366_Thr367dup) ERR:SPDI Analogous +NM_000321.3:c.393C>T NP_000312.2:p.Phe131= NC_000013.11:48345091:C:T p.(Phe131=) NC_000013.11:48345091:C:T p.(Phe131=) NC_000013.11:48345091:C:T Identity +NM_001407929.1:c.2088G>T NP_001394858.1:p.Ser696= NC_000017.11:43093178:C:A p.(Ser696=) NC_000017.11:43093178:C:A p.(Ser696=) NC_000017.11:43093178:C:A Identity +NM_001407839.1:c.1288_1297dup NP_001394768.1:p.Leu433delinsHisTer NC_000017.11:43094089:GATTTTCAGT:GATTTTCAGTGATTTTCAGT p.(Leu433HisfsTer2) NC_000017.11:43094089:GATTTTCAGT:GATTTTCAGTGATTTTCAGT p.(Leu433HisfsTer2) ERR:SPDI Analogous +NM_001172895.1:c.177C>T NP_001166366.1:p.Thr59= NC_000007.14:116559019:C:T p.(Thr59=) NC_000007.14:116559019:C:T p.(Thr59=) NC_000007.14:116559019:C:T Identity +NM_002439.5:c.2181A>G NP_002430.3:p.Arg727= NC_000005.10:80768930:A:G p.(Arg727=) NC_000005.10:80768930:A:G p.(Arg727=) NC_000005.10:80768930:A:G Identity +NM_001365276.2:c.2673C>T NP_001352205.1:p.Asp891= NC_000006.12:32088890:G:A p.(Asp891=) NC_000006.12:32088890:G:A p.(Asp891=) NC_000006.12:32088890:G:A Identity +NM_000059.4:c.6501A>G NP_000050.3:p.Leu2167= NC_000013.11:32340855:A:G p.(Leu2167=) NC_000013.11:32340855:A:G p.(Leu2167=) NC_000013.11:32340855:A:G Identity +NM_000059.4:c.939T>A NP_000050.3:p.Ser313= NC_000013.11:32332416:T:A p.(Ser313=) NC_000013.11:32332416:T:A p.(Ser313=) NC_000013.11:32332416:T:A Identity +NM_001195573.1:c.4092A>G NP_001182502.1:p.Gly1364= NC_000014.9:95099893:T:C p.(Gly1364=) NC_000014.9:95099893:T:C p.(Gly1364=) NC_000014.9:95099893:T:C Identity +NM_020433.5:c.1374C>T NP_065166.2:p.Gly458= NC_000020.11:44116300:G:A p.(Gly458=) NC_000020.11:44116300:G:A p.(Gly458=) NC_000020.11:44116300:G:A Identity +NM_001353229.2:c.999G>A NP_001340158.1:p.Glu333= NC_000017.11:17219135:C:T p.(Glu333=) NC_000017.11:17219135:C:T p.(Glu333=) NC_000017.11:17219135:C:T Identity +NM_004304.5:c.147G>C NP_004295.2:p.Leu49= NC_000002.12:29920512:C:G p.(Leu49=) NC_000002.12:29920512:C:G p.(Leu49=) NC_000002.12:29920512:C:G Identity +NM_001081640.2:c.4761G>A NP_001075109.1:p.Val1587= NC_000008.11:47885958:C:T p.(Val1587=) NC_000008.11:47885958:C:T p.(Val1587=) NC_000008.11:47885958:C:T Identity +NM_000400.4:c.2118C>G NP_000391.1:p.Leu706= NC_000019.10:45352280:G:C p.(Leu706=) NC_000019.10:45352280:G:C p.(Leu706=) NC_000019.10:45352280:G:C Identity +NM_000366.6:c.213G>A NP_000357.3:p.Leu71= NC_000015.10:63044124:G:A p.(Leu71=) NC_000015.10:63044124:G:A p.(Leu71=) NC_000015.10:63044124:G:A Identity +NM_001294332.2:c.978G>A NP_001281261.1:p.Glu326= NC_000005.10:235200:G:A p.(Glu326=) NC_000005.10:235200:G:A p.(Glu326=) NC_000005.10:235200:G:A Identity +NM_000020.3:c.696C>T NP_000011.2:p.Ser232= NC_000012.12:51914508:C:T p.(Ser232=) NC_000012.12:51914508:C:T p.(Ser232=) NC_000012.12:51914508:C:T Identity +NM_000245.4:c.3738A>G NP_000236.2:p.Pro1246= NC_000007.14:116783408:A:G p.(Pro1246=) NC_000007.14:116783408:A:G p.(Pro1246=) NC_000007.14:116783408:A:G Identity +NM_000245.4:c.2535A>G NP_000236.2:p.Glu845= NC_000007.14:116763219:A:G p.(Glu845=) NC_000007.14:116763219:A:G p.(Glu845=) NC_000007.14:116763219:A:G Identity +NM_000492.4:c.3447C>A NP_000483.3:p.Ser1149= NC_000007.14:117614691:C:A p.(Ser1149=) NC_000007.14:117614691:C:A p.(Ser1149=) NC_000007.14:117614691:C:A Identity +NM_000051.4:c.3876A>T NP_000042.3:p.Val1292= NC_000011.10:108284355:A:T p.(Val1292=) NC_000011.10:108284355:A:T p.(Val1292=) NC_000011.10:108284355:A:T Identity +NM_000051.4:c.4095C>A NP_000042.3:p.Leu1365= NC_000011.10:108287700:C:A p.(Leu1365=) NC_000011.10:108287700:C:A p.(Leu1365=) NC_000011.10:108287700:C:A Identity +NM_001291345.2:c.1167C>T NP_001278274.1:p.Ala389= NC_000001.11:1640330:G:A p.(Ala389=) NC_000001.11:1640330:G:A p.(Ala389=) NC_000001.11:1640330:G:A Identity +NM_001278616.2:c.276A>G NP_001265545.1:p.Gln92= NC_000002.12:110672746:T:C p.(Gln92=) NC_000002.12:110672746:T:C p.(Gln92=) NC_000002.12:110672746:T:C Identity +NM_001142548.2:c.15G>A NP_001136020.1:p.Leu5= NC_000001.11:46248522:G:A p.(Leu5=) NC_000001.11:46248522:G:A p.(Leu5=) NC_000001.11:46248522:G:A Identity +NM_000368.5:c.63G>A NP_000359.1:p.Val21= NC_000009.12:132928809:C:T p.(Val21=) NC_000009.12:132928809:C:T p.(Val21=) NC_000009.12:132928809:C:T Identity +NM_001242803.2:c.819C>T NP_001229732.1:p.Ile273= NC_000006.12:26452104:C:T p.(Ile273=) NC_000006.12:26452104:C:T p.(Ile273=) NC_000006.12:26452104:C:T Identity +NM_001111077.2:c.1701G>A NP_001104547.1:p.Thr567= NC_000006.12:158766973:C:T p.(Thr567=) NC_000006.12:158766973:C:T p.(Thr567=) NC_000006.12:158766973:C:T Identity +NM_000051.4:c.4200G>A NP_000042.3:p.Lys1400= NC_000011.10:108289066:G:A p.(Lys1400=) NC_000011.10:108289066:G:A p.(Lys1400=) NC_000011.10:108289066:G:A Identity +NM_001367624.2:c.2388C>T NP_001354553.1:p.Thr796= NC_000016.10:88429857:C:T p.(Thr796=) NC_000016.10:88429857:C:T p.(Thr796=) NC_000016.10:88429857:C:T Identity +NM_005751.5:c.3483T>G NP_005742.4:p.Leu1161= NC_000007.14:92012592:T:G p.(Leu1161=) NC_000007.14:92012592:T:G p.(Leu1161=) NC_000007.14:92012592:T:G Identity +NM_001211.6:c.1254A>G NP_001202.5:p.Glu418= NC_000015.10:40196739:A:G p.(Glu418=) NC_000015.10:40196739:A:G p.(Glu418=) NC_000015.10:40196739:A:G Identity +NM_053025.4:c.423G>A NP_444253.3:p.Gly141= NC_000003.12:123739061:C:T p.(Gly141=) NC_000003.12:123739061:C:T p.(Gly141=) NC_000003.12:123739061:C:T Identity +NM_006218.4:c.339C>T NP_006209.2:p.Leu113= NC_000003.12:179199163:C:T p.(Leu113=) NC_000003.12:179199163:C:T p.(Leu113=) NC_000003.12:179199163:C:T Identity +NM_001184.4:c.5574T>C NP_001175.2:p.Cys1858= NC_000003.12:142497176:A:G p.(Cys1858=) NC_000003.12:142497176:A:G p.(Cys1858=) NC_000003.12:142497176:A:G Identity +NM_001105206.3:c.537C>A NP_001098676.2:p.Leu179= NC_000006.12:112191816:G:T p.(Leu179=) NC_000006.12:112191816:G:T p.(Leu179=) NC_000006.12:112191816:G:T Identity +NM_001142548.2:c.2010T>C NP_001136020.1:p.Ala670= NC_000001.11:46277956:T:C p.(Ala670=) NC_000001.11:46277956:T:C p.(Ala670=) NC_000001.11:46277956:T:C Identity +NM_002432.3:c.582C>A NP_002423.1:p.Thr194= NC_000001.11:158845597:C:A p.(Thr194=) NC_000001.11:158845597:C:A p.(Thr194=) NC_000001.11:158845597:C:A Identity +NM_001346599.2:c.957C>G NP_001333528.1:p.Leu319= NC_000007.14:105550343:C:G p.(Leu319=) NC_000007.14:105550343:C:G p.(Leu319=) NC_000007.14:105550343:C:G Identity +NM_001346599.2:c.717C>T NP_001333528.1:p.Phe239= NC_000007.14:105548664:C:T p.(Phe239=) NC_000007.14:105548664:C:T p.(Phe239=) NC_000007.14:105548664:C:T Identity +NM_001166108.2:c.1617C>T NP_001159580.1:p.Thr539= NC_000004.12:168709142:C:T p.(Thr539=) NC_000004.12:168709142:C:T p.(Thr539=) NC_000004.12:168709142:C:T Identity +NM_018975.4:c.927A>C NP_061848.2:p.Pro309= NC_000016.10:75656337:A:C p.(Pro309=) NC_000016.10:75656337:A:C p.(Pro309=) NC_000016.10:75656337:A:C Identity +NM_014908.4:c.750A>G NP_055723.1:p.Ser250= NC_000009.12:128946553:T:C p.(Ser250=) NC_000009.12:128946553:T:C p.(Ser250=) NC_000009.12:128946553:T:C Identity +NM_014908.4:c.156G>A NP_055723.1:p.Gln52= NC_000009.12:128947147:C:T p.(Gln52=) NC_000009.12:128947147:C:T p.(Gln52=) NC_000009.12:128947147:C:T Identity +NM_014908.4:c.1164A>G NP_055723.1:p.Leu388= NC_000009.12:128946139:T:C p.(Leu388=) NC_000009.12:128946139:T:C p.(Leu388=) NC_000009.12:128946139:T:C Identity +NM_001365951.3:c.1104G>C NP_001352880.1:p.Leu368= NC_000001.11:10278051:G:C p.(Leu368=) NC_000001.11:10278051:G:C p.(Leu368=) NC_000001.11:10278051:G:C Identity +NM_001282424.3:c.1512G>C NP_001269353.2:p.Thr504= NC_000012.12:8857299:G:C p.(Thr504=) NC_000012.12:8857299:G:C p.(Thr504=) NC_000012.12:8857299:G:C Identity +NM_001134363.3:c.2718G>A NP_001127835.2:p.Glu906= NC_000010.11:110821336:G:A p.(Glu906=) NC_000010.11:110821336:G:A p.(Glu906=) NC_000010.11:110821336:G:A Identity +NM_001367624.2:c.195A>T NP_001354553.1:p.Pro65= NC_000016.10:88427664:A:T p.(Pro65=) NC_000016.10:88427664:A:T p.(Pro65=) NC_000016.10:88427664:A:T Identity +NM_001367624.2:c.8151G>A NP_001354553.1:p.Gly2717= NC_000016.10:88435620:G:A p.(Gly2717=) NC_000016.10:88435620:G:A p.(Gly2717=) NC_000016.10:88435620:G:A Identity +NM_003079.5:c.1053A>C NP_003070.3:p.Thr351= NC_000017.11:40628967:T:G p.(Thr351=) NC_000017.11:40628967:T:G p.(Thr351=) NC_000017.11:40628967:T:G Identity +NM_007272.3:c.27G>C NP_009203.2:p.Ala9= NC_000001.11:15438490:G:C p.(Ala9=) NC_000001.11:15438490:G:C p.(Ala9=) NC_000001.11:15438490:G:C Identity +NM_000548.5:c.2947_2950dup NP_000539.2:p.Glu984delinsValTer NC_000016.10:2077704:TGTCTG:TGTCTGTCTG p.(Glu984ValfsTer2) NC_000016.10:2077704:TGTCTG:TGTCTGTCTG p.(Glu984ValfsTer2) ERR:SPDI Analogous +NM_001098623.2:c.8622G>A NP_001092093.2:p.Val2874= NC_000001.11:228283168:G:A p.(Val2874=) NC_000001.11:228283168:G:A p.(Val2874=) NC_000001.11:228283168:G:A Identity +NM_001098623.2:c.1560G>A NP_001092093.2:p.Val520= NC_000001.11:228214829:G:A p.(Val520=) NC_000001.11:228214829:G:A p.(Val520=) NC_000001.11:228214829:G:A Identity +NM_001406559.1:c.1074A>G NP_001393488.1:p.Lys358= NC_000010.11:86919301:A:G p.(Lys358=) NC_000010.11:86919301:A:G p.(Lys358=) NC_000010.11:86919301:A:G Identity +NM_001377260.1:c.627G>C NP_001364189.1:p.Val209= NC_000001.11:231421261:C:G p.(Val209=) NC_000001.11:231421261:C:G p.(Val209=) NC_000001.11:231421261:C:G Identity +NM_001377260.1:c.516G>T NP_001364189.1:p.Ala172= NC_000001.11:231421372:C:A p.(Ala172=) NC_000001.11:231421372:C:A p.(Ala172=) NC_000001.11:231421372:C:A Identity +NM_001410991.1:c.5184C>T NP_001397920.1:p.Pro1728= NC_000009.12:115035260:G:A p.(Pro1728=) NC_000009.12:115035260:G:A p.(Pro1728=) NC_000009.12:115035260:G:A Identity +NM_001410975.1:c.4002T>C NP_001397904.1:p.Ser1334= NC_000002.12:201711107:A:G p.(Ser1334=) NC_000002.12:201711107:A:G p.(Ser1334=) NC_000002.12:201711107:A:G Identity +NM_005921.2:c.196C>A NP_005912.1:p.Arg66= NC_000005.10:56815768:C:A p.(Arg66=) NC_000005.10:56815768:C:A p.(Arg66=) NC_000005.10:56815768:C:A Identity +NM_023010.4:c.1191A>G NP_075386.1:p.Thr397= NC_000023.11:119837828:T:C p.(Thr397=) NC_000023.11:119837828:T:C p.(Thr397=) NC_000023.11:119837828:T:C Identity +NM_014252.4:c.760_762delinsTG NP_055067.1:p.Phe253_Ile254insTer NC_000013.11:40808574:ATA:TG p.(Ile254MetfsTer4) NC_000013.11:40808574:ATAA:ATG p.(Ile254Ter) NC_000013.11:40808574:ATA:TG Different +NM_001272071.2:c.239_250del NP_001259000.1:p.Leu80_Ile83del NC_000023.11:15845940:GAATTATTTCCAG:G p.(Leu80_Ile83del) NC_000023.11:15845940:GAATTATTTCCAG:G p.(Leu80_Ile83del) NC_000023.11:15845940:GAATTATTTCCA: Identity +NM_001243744.2:c.1470G>A NP_001230673.1:p.Lys490= NC_000009.12:95111204:C:T p.(Lys490=) NC_000009.12:95111204:C:T p.(Lys490=) NC_000009.12:95111204:C:T Identity +NM_000540.3:c.5622_5633dup NP_000531.2:p.Glu1878_Asp1879insGluGluGluGlu NC_000019.10:38489245:GAGGAAGAAGAGGAGGA:GAGGAAGAAGAGGAGGAAGAAGAGGAGGA p.(Glu1875_Glu1878dup) NC_000019.10:38489245:GAGGAAGAAGAGGAGGA:GAGGAAGAAGAGGAGGAAGAAGAGGAGGA p.(Glu1875_Glu1878dup) ERR:SPDI Analogous +NM_000939.4:c.117G>A NP_000930.1:p.Thr39= NC_000002.12:25164655:C:T p.(Thr39=) NC_000002.12:25164655:C:T p.(Thr39=) NC_000002.12:25164655:C:T Identity +NM_006080.3:c.2001_2003dup NP_006071.1:p.Ile668_Asp669insIle NC_000007.14:83961683:ATGA:ATGATGA p.(Ile668dup) NC_000007.14:83961683:ATGA:ATGATGA p.(Ile668dup) ERR:SPDI Analogous +NM_003482.4:c.15540G>A NP_003473.3:p.Val5180= NC_000012.12:49026425:C:T p.(Val5180=) NC_000012.12:49026425:C:T p.(Val5180=) NC_000012.12:49026425:C:T Identity +NM_024685.4:c.1140A>G NP_078961.3:p.Arg380= NC_000012.12:76346844:T:C p.(Arg380=) NC_000012.12:76346844:T:C p.(Arg380=) NC_000012.12:76346844:T:C Identity +NM_001354705.2:c.1185G>A NP_001341634.1:p.Val395= NC_000012.12:57572149:G:A p.(Val395=) NC_000012.12:57572149:G:A p.(Val395=) NC_000012.12:57572149:G:A Identity +NM_019066.5:c.1344_1385del NP_061939.3:p.442PVIRQAP[1] NC_000015.10:23646357:GGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCAC:GGGGCCTGGCGGATCAC p.(Pro449_Pro462del) NC_000015.10:23646357:GGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCAC:GGGGCCTGGCGGATCAC p.(Pro449_Pro462del) NC_000015.10:23646357:GGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGT: Analogous +NM_000535.7:c.774_777delinsA NP_000526.2:p.Ser258_Cys259delinsArg NC_000007.14:5997351:ACAG:T p.(Ser258_Cys259delinsArg) NC_000007.14:5997351:ACAG:T p.(Ser258_Cys259delinsArg) NC_000007.14:5997351:ACAG:T Identity +NM_001447.3:c.6927T>C NP_001438.1:p.Tyr2309= NC_000005.10:151544199:A:G p.(Tyr2309=) NC_000005.10:151544199:A:G p.(Tyr2309=) NC_000005.10:151544199:A:G Identity +NM_001005271.3:c.1521G>A NP_001005271.2:p.Glu507= NC_000017.11:7894990:G:A p.(Glu507=) NC_000017.11:7894990:G:A p.(Glu507=) NC_000017.11:7894990:G:A Identity +NM_003320.5:c.1684T>G NP_003311.2:p.Ter562Glu NC_000011.10:8101616:T:G p.(Ter562GluextTer91) NC_000011.10:8101616:T:G p.(Ter562GluextTer91) NC_000011.10:8101616:T:G Analogous +NM_001288824.4:c.1089C>T NP_001275753.1:p.Cys363= NC_000005.10:132861600:G:A p.(Cys363=) NC_000005.10:132861600:G:A p.(Cys363=) NC_000005.10:132861600:G:A Identity +NM_001304829.2:c.262_265del NP_001291758.1:p.Ser88_Glu89insTer NC_000001.11:100110386:CAGACAG:CAG p.(Glu89Ter) NC_000001.11:100110386:CAGACAG:CAG p.(Glu89Ter) NC_000001.11:100110386:CAGA: Analogous +NM_001167961.2:c.294C>T NP_001161433.1:p.Asp98= NC_000007.14:66633423:C:T p.(Asp98=) NC_000007.14:66633423:C:T p.(Asp98=) NC_000007.14:66633423:C:T Identity +NM_001407296.1:c.523del NP_001394225.1:p.Glu174_Ile175insTer NC_000016.10:23635962:TTT:TT p.(Ile175Ter) NC_000016.10:23635962:TTT:TT p.(Ile175Ter) NC_000016.10:23635962:T: Analogous +NM_000249.4:c.102del NP_000240.1:p.Glu34_Met35insTer NC_000003.12:36993648:G: p.(Met35Ter) NC_000003.12:36993648:G: p.(Met35Ter) NC_000003.12:36993648:G: Analogous +NM_000059.4:c.1713del NP_000050.3:p.Ser571_Val572insTer NC_000013.11:32333190:T: p.(Val572Ter) NC_000013.11:32333190:T: p.(Val572Ter) NC_000013.11:32333190:T: Analogous +NM_000182.5:c.2064_2081delinsTGGCCTCTGA NP_000173.2:p.Leu689_Leu694delinsGlyLeuTer NC_000002.12:26191547:AAGATCCCCTCTTGCAGG:TCAGAGGCCA p.(Leu689GlyfsTer3) NC_000002.12:26191547:AAGATCCCCTCTTGCAGG:TCAGAGGCCA p.(Leu689GlyfsTer3) NC_000002.12:26191547:AAGATCCCCTCTTGCAGG:TCAGAGGCCA Analogous +NM_001278055.2:c.9321del NP_001264984.1:p.Ser3107_Val3108insTer NC_000013.11:23334113:A: p.(Val3108Ter) NC_000013.11:23334113:A: p.(Val3108Ter) NC_000013.11:23334113:A: Analogous +NM_000231.3:c.450_456del NP_000222.2:p.Leu150_Phe151insTer NC_000013.11:23279419:ACTATTTACT:ACT p.(Phe151Ter) NC_000013.11:23279419:ACTATTTACT:ACT p.(Phe151Ter) NC_000013.11:23279422:ATTTACT: Analogous +NM_003742.4:c.2418C>T NP_003733.2:p.Gly806= NC_000002.12:168944886:G:A p.(Gly806=) NC_000002.12:168944886:G:A p.(Gly806=) NC_000002.12:168944886:G:A Identity +NM_025114.4:c.5046del NP_079390.3:p.Lys1682_Val1683insTer NC_000012.12:88080361:TTTTTT:TTTTT p.(Val1683Ter) NC_000012.12:88080361:TTTTTT:TTTTT p.(Val1683Ter) NC_000012.12:88080361:T: Analogous +NM_005730.4:c.621G>T NP_005721.3:p.Gly207= NC_000012.12:57823972:C:A p.(Gly207=) NC_000012.12:57823972:C:A p.(Gly207=) NC_000012.12:57823972:C:A Identity +NM_001146029.3:c.1704C>T NP_001139501.1:p.Asn568= NC_000015.10:74410878:G:A p.(Asn568=) NC_000015.10:74410878:G:A p.(Asn568=) NC_000015.10:74410878:G:A Identity +NM_018117.12:c.1704A>G NP_060587.8:p.Glu568= NC_000010.11:120880865:A:G p.(Glu568=) NC_000010.11:120880865:A:G p.(Glu568=) NC_000010.11:120880865:A:G Identity +NM_001017926.3:c.1140T>C NP_001017926.1:p.Gly380= NC_000008.11:123254806:A:G p.(Gly380=) NC_000008.11:123254806:A:G p.(Gly380=) NC_000008.11:123254806:A:G Identity +NM_001347997.2:c.1647G>A NP_001334926.1:p.Pro549= NC_000009.12:106925558:G:A p.(Pro549=) NC_000009.12:106925558:G:A p.(Pro549=) NC_000009.12:106925558:G:A Identity +NM_001308225.2:c.345G>A NP_001295154.1:p.Pro115= NC_000018.10:25226912:C:T p.(Pro115=) NC_000018.10:25226912:C:T p.(Pro115=) NC_000018.10:25226912:C:T Identity +NM_001003406.2:c.1314C>A NP_001003406.1:p.Ile438= NC_000022.11:39646732:C:A p.(Ile438=) NC_000022.11:39646732:C:A p.(Ile438=) NC_000022.11:39646732:C:A Identity +NM_000059.4:c.7038T>C NP_000050.3:p.Asn2346= NC_000013.11:32354890:T:C p.(Asn2346=) NC_000013.11:32354890:T:C p.(Asn2346=) NC_000013.11:32354890:T:C Identity +NM_024642.5:c.247C>A NP_078918.3:p.Arg83= NC_000009.12:98807944:C:A p.(Arg83=) NC_000009.12:98807944:C:A p.(Arg83=) NC_000009.12:98807944:C:A Identity +NM_000552.5:c.3303C>T NP_000543.3:p.Cys1101= NC_000012.12:6023706:G:A p.(Cys1101=) NC_000012.12:6023706:G:A p.(Cys1101=) NC_000012.12:6023706:G:A Identity +NM_001317830.2:c.1710C>T NP_001304759.1:p.Gly570= NC_000008.11:74244723:G:A p.(Gly570=) NC_000008.11:74244723:G:A p.(Gly570=) NC_000008.11:74244723:G:A Identity +NM_001287819.3:c.1884C>T NP_001274748.1:p.Ser628= NC_000001.11:196333959:G:A p.(Ser628=) NC_000001.11:196333959:G:A p.(Ser628=) NC_000001.11:196333959:G:A Identity +NM_001961.4:c.318C>A NP_001952.1:p.Pro106= NC_000019.10:3983191:G:T p.(Pro106=) NC_000019.10:3983191:G:T p.(Pro106=) NC_000019.10:3983191:G:T Identity +NM_000296.4:c.1105_1106del NP_000287.4:p.Gln368_Ser369insTer NC_000016.10:2117885:CTCT:CT p.(Ser369Ter) NC_000016.10:2117885:CTCT:CT p.(Ser369Ter) NC_000016.10:2117885:CT: Analogous +NM_000314.8:c.318_320delinsCTT NP_000305.3:p.Glu106_Asp107delinsAspPhe NC_000010.11:87933076:AGA:CTT p.(Glu106_Asp107delinsAspPhe) NC_000010.11:87933076:AGA:CTT p.(Glu106_Asp107delinsAspPhe) NC_000010.11:87933076:AGA:CTT Identity +NM_016610.4:c.2307C>A NP_057694.2:p.Ile769= NC_000023.11:12921292:C:A p.(Ile769=) NC_000023.11:12921292:C:A p.(Ile769=) NC_000023.11:12921292:C:A Identity +NM_001388404.1:c.1764C>T NP_001375333.1:p.Ser588= NC_000001.11:226735694:G:A p.(Ser588=) NC_000001.11:226735694:G:A p.(Ser588=) NC_000001.11:226735694:G:A Identity +NM_001354925.1:c.555A>G NP_001341854.1:p.Pro185= NC_000005.10:132486362:T:C p.(Pro185=) NC_000005.10:132486362:T:C p.(Pro185=) NC_000005.10:132486362:T:C Identity +NM_018248.3:c.756T>C NP_060718.3:p.Pro252= NC_000004.12:177341528:T:C p.(Pro252=) NC_000004.12:177341528:T:C p.(Pro252=) NC_000004.12:177341528:T:C Identity +NM_001168249.1:c.3585_3611del27 NP_001161721.1:p.Phe1197_Gly1205del NC_000001.11:102914367:CCAGGAGGACCAGGATCTCCAGGAAAACCA:CCA ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001005360.3:c.1533C>T NP_001005360.1:p.Ala511= NC_000019.10:10805954:C:T p.(Ala511=) NC_000019.10:10805954:C:T p.(Ala511=) NC_000019.10:10805954:C:T Identity +NM_018848.3:c.1516GAA[3] NP_061336.1:p.Glu507_Leu508insGlu NC_000020.11:10405438:TTCTTC:TTCTTCTTC p.(Glu507dup) NC_000020.11:10405443:C:TTCTTCTTC ERR:Parse ERR:Parse Analogous +NM_000540.3:c.1007dup NP_000531.2:p.Pro336_Glu337insTer NC_000019.10:38448692:CCCCCC:CCCCCCC p.(Glu337Ter) NC_000019.10:38448692:CCCCCC:CCCCCCC p.(Glu337Ter) ERR:SPDI Analogous +NM_001194937.2:c.3449_3450insTAC NP_001181866.1:p.Val1150_Val1151insThr NC_000001.11:151405558::GTA p.(Val1150_Val1151insThr) NC_000001.11:151405557:T:GTA p.(Val1150_Val1151insThr) NC_000001.11:151405558:TA:GTA Identity +NM_000138.5:c.3240C>T NP_000129.3:p.Leu1080= NC_000015.10:48488209:G:A p.(Leu1080=) NC_000015.10:48488209:G:A p.(Leu1080=) NC_000015.10:48488209:G:A Identity +NM_004459.7:c.2859G>A NP_004450.3:p.Leu953= NC_000017.11:67894102:G:A p.(Leu953=) NC_000017.11:67894102:G:A p.(Leu953=) NC_000017.11:67894102:G:A Identity +NM_001060.6:c.186C>A NP_001051.1:p.Ser62= NC_000019.10:3600448:G:T p.(Ser62=) NC_000019.10:3600448:G:T p.(Ser62=) NC_000019.10:3600448:G:T Identity +NM_001163435.3:c.1727_1728insGAAGTT NP_001156907.2:p.Lys576_Tyr577insLysLeu NC_000004.12:106230409::AACTTC p.(Lys576_Tyr577insLysLeu) NC_000004.12:106230408:T:AACTTC p.(Lys576_Tyr577insLysLeu) NC_000004.12:106230409:TT:AACTTC Identity +NM_000046.5:c.540C>T NP_000037.2:p.Arg180= NC_000005.10:78964565:G:A p.(Arg180=) NC_000005.10:78964565:G:A p.(Arg180=) NC_000005.10:78964565:G:A Identity +NM_001127214.4:c.1611C>T NP_001120686.1:p.Ala537= NC_000016.10:89146046:C:T p.(Ala537=) NC_000016.10:89146046:C:T p.(Ala537=) NC_000016.10:89146046:C:T Identity +NM_001042572.3:c.486A>G NP_001036037.1:p.Gln162= NC_000015.10:92937559:A:G p.(Gln162=) NC_000015.10:92937559:A:G p.(Gln162=) NC_000015.10:92937559:A:G Identity +NM_001081640.2:c.8646C>T NP_001075109.1:p.Ala2882= NC_000008.11:47826792:G:A p.(Ala2882=) NC_000008.11:47826792:G:A p.(Ala2882=) NC_000008.11:47826792:G:A Identity +NM_000393.5:c.4299C>A NP_000384.2:p.Ile1433= NC_000002.12:189034969:G:T p.(Ile1433=) NC_000002.12:189034969:G:T p.(Ile1433=) NC_000002.12:189034969:G:T Identity +NM_001126105.3:c.1353C>G NP_001119577.1:p.Leu451= NC_000014.9:22774008:G:C p.(Leu451=) NC_000014.9:22774008:G:C p.(Leu451=) NC_000014.9:22774008:G:C Identity +NM_001039876.3:c.156G>A NP_001034965.1:p.Gln52= NC_000019.10:36008339:C:T p.(Gln52=) NC_000019.10:36008339:C:T p.(Gln52=) NC_000019.10:36008339:C:T Identity +NM_000181.4:c.1116G>A NP_000172.2:p.Leu372= NC_000007.14:65974653:C:T p.(Leu372=) NC_000007.14:65974653:C:T p.(Leu372=) NC_000007.14:65974653:C:T Identity +NM_007123.6:c.3736C>T NP_009054.6:p.Leu1246= NC_000001.11:216199701:G:A p.(Leu1246=) NC_000001.11:216199701:G:A p.(Leu1246=) NC_000001.11:216199701:G:A Identity +NM_000124.4:c.1152A>G NP_000115.1:p.Glu384= NC_000010.11:49524277:T:C p.(Glu384=) NC_000010.11:49524277:T:C p.(Glu384=) NC_000010.11:49524277:T:C Identity +NM_000527.5:c.1338G>C NP_000518.1:p.Leu446= NC_000019.10:11113428:G:C p.(Leu446=) NC_000019.10:11113428:G:C p.(Leu446=) NC_000019.10:11113428:G:C Identity +NM_001320867.2:c.585G>A NP_001307796.1:p.Glu195= NC_000019.10:43508037:C:T p.(Glu195=) NC_000019.10:43508037:C:T p.(Glu195=) NC_000019.10:43508037:C:T Identity +NM_007123.6:c.144A>G NP_009054.6:p.Lys48= NC_000001.11:216422192:T:C p.(Lys48=) NC_000001.11:216422192:T:C p.(Lys48=) NC_000001.11:216422192:T:C Identity +NM_001256849.1:c.615C>T NP_001243778.1:p.Gly205= NC_000019.10:50402229:C:T p.(Gly205=) NC_000019.10:50402229:C:T p.(Gly205=) NC_000019.10:50402229:C:T Identity +NM_001163435.3:c.1248C>T NP_001156907.2:p.Ser416= NC_000004.12:106236491:G:A p.(Ser416=) NC_000004.12:106236491:G:A p.(Ser416=) NC_000004.12:106236491:G:A Identity +NM_012327.6:c.2601A>C NP_036459.1:p.Ile867= NC_000018.10:62074796:T:G p.(Ile867=) NC_000018.10:62074796:T:G p.(Ile867=) NC_000018.10:62074796:T:G Identity +NM_015909.4:c.435C>T NP_056993.2:p.Thr145= NC_000002.12:15539300:G:A p.(Thr145=) NC_000002.12:15539300:G:A p.(Thr145=) NC_000002.12:15539300:G:A Identity +NM_004501.3:c.109C>A NP_004492.2:p.Arg37= NC_000001.11:244864198:G:T p.(Arg37=) NC_000001.11:244864198:G:T p.(Arg37=) NC_000001.11:244864198:G:T Identity +NM_001130442.3:c.45C>G NP_001123914.1:p.Gly15= NC_000011.10:534277:G:C p.(Gly15=) NC_000011.10:534277:G:C p.(Gly15=) NC_000011.10:534277:G:C Identity +NM_001194998.2:c.804T>C NP_001181927.1:p.Tyr268= NC_000015.10:48793348:A:G p.(Tyr268=) NC_000015.10:48793348:A:G p.(Tyr268=) NC_000015.10:48793348:A:G Identity +NM_007254.4:c.103A>C NP_009185.2:p.Arg35= NC_000019.10:49867101:T:G p.(Arg35=) NC_000019.10:49867101:T:G p.(Arg35=) NC_000019.10:49867101:T:G Identity +NM_001267623.2:c.126C>T NP_001254552.1:p.Leu42= NC_000020.11:3214043:C:T p.(Leu42=) NC_000020.11:3214043:C:T p.(Leu42=) NC_000020.11:3214043:C:T Identity +NM_015657.4:c.2625G>A NP_056472.2:p.Leu875= NC_000002.12:214990746:C:T p.(Leu875=) NC_000002.12:214990746:C:T p.(Leu875=) NC_000002.12:214990746:C:T Identity +NM_001318860.2:c.381C>G NP_001305789.1:p.Gly127= NC_000002.12:73957204:C:G p.(Gly127=) NC_000002.12:73957204:C:G p.(Gly127=) NC_000002.12:73957204:C:G Identity +NM_001040610.3:c.939T>G NP_001035700.1:p.Pro313= NC_000015.10:82227549:A:C p.(Pro313=) NC_000015.10:82227549:A:C p.(Pro313=) NC_000015.10:82227549:A:C Identity +NM_000721.4:c.2430_2438del NP_000712.2:p.806NPL[2] NC_000001.11:181732507:CTCAACCCCCTCAACCC:CTCAACCC p.(Asn812_Leu814del) NC_000001.11:181732507:CTCAACCCCCTCAACCC:CTCAACCC p.(Asn812_Leu814del) NC_000001.11:181732515:CCTCAACCC: Analogous +NM_001306079.2:c.4935G>A NP_001293008.1:p.Glu1645= NC_000002.12:27239102:G:A p.(Glu1645=) NC_000002.12:27239102:G:A p.(Glu1645=) NC_000002.12:27239102:G:A Identity +NM_001300899.2:c.3693A>G NP_001287828.1:p.Glu1231= NC_000006.12:75914915:A:G p.(Glu1231=) NC_000006.12:75914915:A:G p.(Glu1231=) NC_000006.12:75914915:A:G Identity +NM_001102564.3:c.180G>A NP_001096034.1:p.Gln60= NC_000014.9:76022358:G:A p.(Gln60=) NC_000014.9:76022358:G:A p.(Gln60=) NC_000014.9:76022358:G:A Identity +NM_001002294.3:c.1284A>G NP_001002294.1:p.Thr428= NC_000001.11:171117126:A:G p.(Thr428=) NC_000001.11:171117126:A:G p.(Thr428=) NC_000001.11:171117126:A:G Identity +NM_001271620.2:c.1371C>T NP_001258549.1:p.Phe457= NC_000016.10:49637600:G:A p.(Phe457=) NC_000016.10:49637600:G:A p.(Phe457=) NC_000016.10:49637600:G:A Identity +NM_000192.3:c.1077A>G NP_000183.2:p.Pro359= NC_000012.12:114356011:T:C p.(Pro359=) NC_000012.12:114356011:T:C p.(Pro359=) NC_000012.12:114356011:T:C Identity +NM_001330504.2:c.1032G>A NP_001317433.1:p.Gln344= NC_000016.10:5084850:G:A p.(Gln344=) NC_000016.10:5084850:G:A p.(Gln344=) NC_000016.10:5084850:G:A Identity +NM_024529.5:c.1131A>T NP_078805.3:p.Ala377= NC_000001.11:193212453:A:T p.(Ala377=) NC_000001.11:193212453:A:T p.(Ala377=) NC_000001.11:193212453:A:T Identity +NM_001114331.3:c.969G>A NP_001107803.1:p.Gly323= NC_000016.10:1455190:C:T p.(Gly323=) NC_000016.10:1455190:C:T p.(Gly323=) NC_000016.10:1455190:C:T Identity +NM_001411068.1:c.954C>G NP_001397997.1:p.Leu318= NC_000015.10:68208217:G:C p.(Leu318=) NC_000015.10:68208217:G:C p.(Leu318=) NC_000015.10:68208217:G:C Identity +NM_001425246.1:c.516G>A NP_001412175.1:p.Leu172= NC_000014.9:102929453:G:A p.(Leu172=) NC_000014.9:102929453:G:A p.(Leu172=) NC_000014.9:102929453:G:A Identity +NM_000349.3:c.174A>C NP_000340.2:p.Leu58= NC_000008.11:38148644:T:G p.(Leu58=) NC_000008.11:38148644:T:G p.(Leu58=) NC_000008.11:38148644:T:G Identity +NM_007215.4:c.1401T>C NP_009146.2:p.His467= NC_000017.11:64477879:A:G p.(His467=) NC_000017.11:64477879:A:G p.(His467=) NC_000017.11:64477879:A:G Identity +NM_001305878.2:c.2079A>G NP_001292807.1:p.Ala693= NC_000008.11:41943896:T:C p.(Ala693=) NC_000008.11:41943896:T:C p.(Ala693=) NC_000008.11:41943896:T:C Identity +NM_000426.4:c.8160T>C NP_000417.3:p.Asp2720= NC_000006.12:129492398:T:C p.(Asp2720=) NC_000006.12:129492398:T:C p.(Asp2720=) NC_000006.12:129492398:T:C Identity +NM_001080463.2:c.9171G>A NP_001073932.1:p.Lys3057= NC_000011.10:103222092:G:A p.(Lys3057=) NC_000011.10:103222092:G:A p.(Lys3057=) NC_000011.10:103222092:G:A Identity +NM_001244580.2:c.6273G>A NP_001231509.1:p.Lys2091= NC_000007.14:98958042:G:A p.(Lys2091=) NC_000007.14:98958042:G:A p.(Lys2091=) NC_000007.14:98958042:G:A Identity +NM_001261826.3:c.831T>C NP_001248755.1:p.Tyr277= NC_000019.10:2127176:A:G p.(Tyr277=) NC_000019.10:2127176:A:G p.(Tyr277=) NC_000019.10:2127176:A:G Identity +NM_000395.3:c.2360dup NP_000386.1:p.Pro787_Glu788insTer NC_000022.11:36938162:CCCCCC:CCCCCCC p.(Glu788Ter) NC_000022.11:36938162:CCCCCC:CCCCCCC p.(Glu788Ter) ERR:SPDI Analogous +NM_001308093.3:c.561G>T NP_001295022.1:p.Pro187= NC_000008.11:11708872:G:T p.(Pro187=) NC_000008.11:11708872:G:T p.(Pro187=) NC_000008.11:11708872:G:T Identity +NM_001349346.2:c.36A>G NP_001336275.1:p.Gly12= NC_000008.11:37762694:A:G p.(Gly12=) NC_000008.11:37762694:A:G p.(Gly12=) NC_000008.11:37762694:A:G Identity +NM_015072.5:c.2106C>T NP_055887.3:p.Ala702= NC_000014.9:75771823:C:T p.(Ala702=) NC_000014.9:75771823:C:T p.(Ala702=) NC_000014.9:75771823:C:T Identity +NM_000521.4:c.1191C>T NP_000512.2:p.Thr397= NC_000005.10:74718311:C:T p.(Thr397=) NC_000005.10:74718311:C:T p.(Thr397=) NC_000005.10:74718311:C:T Identity +NM_032119.4:c.13410C>T NP_115495.3:p.Ile4470= NC_000005.10:90783301:C:T p.(Ile4470=) NC_000005.10:90783301:C:T p.(Ile4470=) NC_000005.10:90783301:C:T Identity +NM_012327.6:c.2586C>A NP_036459.1:p.Leu862= NC_000018.10:62074811:G:T p.(Leu862=) NC_000018.10:62074811:G:T p.(Leu862=) NC_000018.10:62074811:G:T Identity +NM_001363722.2:c.972A>G NP_001350651.1:p.Leu324= NC_000006.12:69699189:T:C p.(Leu324=) NC_000006.12:69699189:T:C p.(Leu324=) NC_000006.12:69699189:T:C Identity +NM_000222.3:c.1389C>T NP_000213.1:p.Asn463= NC_000004.12:54725898:C:T p.(Asn463=) NC_000004.12:54725898:C:T p.(Asn463=) NC_000004.12:54725898:C:T Identity +NM_001330437.2:c.198T>C NP_001317366.1:p.Tyr66= NC_000012.12:112450377:T:C p.(Tyr66=) NC_000012.12:112450377:T:C p.(Tyr66=) NC_000012.12:112450377:T:C Identity +NM_001126131.2:c.1686G>A NP_001119603.1:p.Arg562= NC_000015.10:89326637:C:T p.(Arg562=) NC_000015.10:89326637:C:T p.(Arg562=) NC_000015.10:89326637:C:T Identity +NM_001040613.3:c.27G>T NP_001035703.1:p.Pro9= NC_000008.11:73976307:G:T p.(Pro9=) NC_000008.11:73976307:G:T p.(Pro9=) NC_000008.11:73976307:G:T Identity +NM_152309.3:c.1536T>G NP_689522.2:p.Val512= NC_000010.11:96626840:A:C p.(Val512=) NC_000010.11:96626840:A:C p.(Val512=) NC_000010.11:96626840:A:C Identity +NM_000720.4:c.1533G>T NP_000711.1:p.Arg511= NC_000003.12:53718735:G:T p.(Arg511=) NC_000003.12:53718735:G:T p.(Arg511=) NC_000003.12:53718735:G:T Identity +NM_000047.3:c.237C>T NP_000038.2:p.His79= NC_000023.11:2955485:G:A p.(His79=) NC_000023.11:2955485:G:A p.(His79=) NC_000023.11:2955485:G:A Identity +NM_024306.5:c.45G>A NP_077282.3:p.Glu15= NC_000016.10:74774710:C:T p.(Glu15=) NC_000016.10:74774710:C:T p.(Glu15=) NC_000016.10:74774710:C:T Identity +NM_000285.4:c.684C>T NP_000276.2:p.His228= NC_000019.10:33413630:G:A p.(His228=) NC_000019.10:33413630:G:A p.(His228=) NC_000019.10:33413630:G:A Identity +NM_000557.5:c.120A>G NP_000548.2:p.Pro40= NC_000020.11:35437808:T:C p.(Pro40=) NC_000020.11:35437808:T:C p.(Pro40=) NC_000020.11:35437808:T:C Identity +NM_000130.5:c.3495C>G NP_000121.2:p.Ser1165= NC_000001.11:169541594:G:C p.(Ser1165=) NC_000001.11:169541594:G:C p.(Ser1165=) NC_000001.11:169541594:G:C Identity +NM_001363688.1:c.216C>G NP_001350617.1:p.Ala72= NC_000014.9:74484561:G:C p.(Ala72=) NC_000014.9:74484561:G:C p.(Ala72=) NC_000014.9:74484561:G:C Identity +NM_004525.3:c.6357A>G NP_004516.2:p.Ala2119= NC_000002.12:169209564:T:C p.(Ala2119=) NC_000002.12:169209564:T:C p.(Ala2119=) NC_000002.12:169209564:T:C Identity +NM_020745.4:c.2685G>C NP_065796.2:p.Val895= NC_000006.12:44301263:C:G p.(Val895=) NC_000006.12:44301263:C:G p.(Val895=) NC_000006.12:44301263:C:G Identity +NM_001371986.1:c.1078C>A NP_001358915.1:p.Arg360= NC_000002.12:209813718:C:A p.(Arg360=) NC_000002.12:209813718:C:A p.(Arg360=) NC_000002.12:209813718:C:A Identity +NM_199242.3:c.2869A>C NP_954712.1:p.Arg957= NC_000017.11:75830112:T:G p.(Arg957=) NC_000017.11:75830112:T:G p.(Arg957=) NC_000017.11:75830112:T:G Identity +NM_000781.3:c.399C>T NP_000772.2:p.Tyr133= NC_000015.10:74347925:G:A p.(Tyr133=) NC_000015.10:74347925:G:A p.(Tyr133=) NC_000015.10:74347925:G:A Identity +NM_001031710.3:c.1032T>C NP_001026880.2:p.Ser344= NC_000007.14:23165792:T:C p.(Ser344=) NC_000007.14:23165792:T:C p.(Ser344=) NC_000007.14:23165792:T:C Identity +NM_001367624.2:c.6106del NP_001354553.1:p.Leu2035_Leu2036insTer NC_000016.10:88433575:C: p.(Leu2036Ter) NC_000016.10:88433575:C: p.(Leu2036Ter) NC_000016.10:88433575:C: Analogous +NM_000264.5:c.4160CTGGGC[1] NP_000255.2:p.1387PG[1] NC_000009.12:95447084:GCCCAGGCCCAGG:GCCCAGG p.(Pro1389_Gly1390del) NC_000009.12:95447095:G:GCCCAG ERR:Parse ERR:Parse Analogous +NM_000109.4:c.1377A>C NP_000100.3:p.Thr459= NC_000023.11:32614383:T:G p.(Thr459=) NC_000023.11:32614383:T:G p.(Thr459=) NC_000023.11:32614383:T:G Identity +NM_014239.4:c.72G>C NP_055054.1:p.Arg24= NC_000014.9:75003061:G:C p.(Arg24=) NC_000014.9:75003061:G:C p.(Arg24=) NC_000014.9:75003061:G:C Identity +NM_001315529.2:c.7521G>A NP_001302458.1:p.Arg2507= NC_000021.9:46430193:G:A p.(Arg2507=) NC_000021.9:46430193:G:A p.(Arg2507=) NC_000021.9:46430193:G:A Identity +NM_015657.4:c.1533G>C NP_056472.2:p.Leu511= NC_000002.12:215007831:C:G p.(Leu511=) NC_000002.12:215007831:C:G p.(Leu511=) NC_000002.12:215007831:C:G Identity +NM_000092.5:c.3846G>A NP_000083.3:p.Gly1282= NC_000002.12:227030569:C:T p.(Gly1282=) NC_000002.12:227030569:C:T p.(Gly1282=) NC_000002.12:227030569:C:T Identity +NM_005914.4:c.753C>T NP_005905.2:p.Asp251= NC_000008.11:47964632:C:T p.(Asp251=) NC_000008.11:47964632:C:T p.(Asp251=) NC_000008.11:47964632:C:T Identity +NM_001377456.1:c.672C>T NP_001364385.1:p.Gly224= NC_000016.10:56506164:G:A p.(Gly224=) NC_000016.10:56506164:G:A p.(Gly224=) NC_000016.10:56506164:G:A Identity +NM_005886.3:c.1266T>C NP_005877.2:p.Pro422= NC_000016.10:57754966:T:C p.(Pro422=) NC_000016.10:57754966:T:C p.(Pro422=) NC_000016.10:57754966:T:C Identity +NM_000494.4:c.2919T>A NP_000485.3:p.Ala973= NC_000010.11:104039098:A:T p.(Ala973=) NC_000010.11:104039098:A:T p.(Ala973=) NC_000010.11:104039098:A:T Identity +NM_001075098.4:c.255G>A NP_001068566.1:p.Gln85= NC_000006.12:39925840:C:T p.(Gln85=) NC_000006.12:39925840:C:T p.(Gln85=) NC_000006.12:39925840:C:T Identity +NM_000321.3:c.1063A>C NP_000312.2:p.Arg355= NC_000013.11:48368539:A:C p.(Arg355=) NC_000013.11:48368539:A:C p.(Arg355=) NC_000013.11:48368539:A:C Identity +NM_001128844.3:c.447A>G NP_001122316.1:p.Pro149= NC_000019.10:10986279:A:G p.(Pro149=) NC_000019.10:10986279:A:G p.(Pro149=) NC_000019.10:10986279:A:G Identity +NM_000732.6:c.411C>A NP_000723.1:p.Ala137= NC_000011.10:118339489:G:T p.(Ala137=) NC_000011.10:118339489:G:T p.(Ala137=) NC_000011.10:118339489:G:T Identity +NM_031407.7:c.10830G>T NP_113584.3:p.Arg3610= NC_000023.11:53546520:C:A p.(Arg3610=) NC_000023.11:53546520:C:A p.(Arg3610=) NC_000023.11:53546520:C:A Identity +NM_138694.4:c.8445T>G NP_619639.3:p.Thr2815= NC_000006.12:51775916:A:C p.(Thr2815=) NC_000006.12:51775916:A:C p.(Thr2815=) NC_000006.12:51775916:A:C Identity +NM_000453.3:c.1854G>A NP_000444.1:p.Lys618= NC_000019.10:17893798:G:A p.(Lys618=) NC_000019.10:17893798:G:A p.(Lys618=) NC_000019.10:17893798:G:A Identity +NM_001374839.1:c.66G>T NP_001361768.1:p.Ala22= NC_000008.11:144416723:C:A p.(Ala22=) NC_000008.11:144416723:C:A p.(Ala22=) NC_000008.11:144416723:C:A Identity +NM_001190981.2:c.1947A>G NP_001177910.1:p.Ser649= NC_000005.10:55941708:T:C p.(Ser649=) NC_000005.10:55941708:T:C p.(Ser649=) NC_000005.10:55941708:T:C Identity +NM_001282782.2:c.747T>C NP_001269711.1:p.Leu249= NC_000022.11:46356059:T:C p.(Leu249=) NC_000022.11:46356059:T:C p.(Leu249=) NC_000022.11:46356059:T:C Identity +NM_001063.4:c.1698T>G NP_001054.2:p.Pro566= NC_000003.12:133775442:T:G p.(Pro566=) NC_000003.12:133775442:T:G p.(Pro566=) NC_000003.12:133775442:T:G Identity +NM_022124.6:c.5073C>T NP_071407.4:p.Val1691= NC_000010.11:71778193:C:T p.(Val1691=) NC_000010.11:71778193:C:T p.(Val1691=) NC_000010.11:71778193:C:T Identity +NM_001315529.2:c.3678A>T NP_001302458.1:p.Thr1226= NC_000021.9:46391191:A:T p.(Thr1226=) NC_000021.9:46391191:A:T p.(Thr1226=) NC_000021.9:46391191:A:T Identity +NM_000306.4:c.63A>T NP_000297.1:p.Ala21= NC_000003.12:87276399:T:A p.(Ala21=) NC_000003.12:87276399:T:A p.(Ala21=) NC_000003.12:87276399:T:A Identity +NM_002204.4:c.927C>T NP_002195.1:p.Ser309= NC_000017.11:50071485:C:T p.(Ser309=) NC_000017.11:50071485:C:T p.(Ser309=) NC_000017.11:50071485:C:T Identity +NM_001135242.2:c.543A>T NP_001128714.1:p.Ser181= NC_000008.11:133254589:T:A p.(Ser181=) NC_000008.11:133254589:T:A p.(Ser181=) NC_000008.11:133254589:T:A Identity +NM_153000.5:c.1050C>T NP_694545.1:p.Gly350= NC_000018.10:10485736:C:T p.(Gly350=) NC_000018.10:10485736:C:T p.(Gly350=) NC_000018.10:10485736:C:T Identity +NM_012079.6:c.1251C>T NP_036211.2:p.Tyr417= NC_000008.11:144316912:G:A p.(Tyr417=) NC_000008.11:144316912:G:A p.(Tyr417=) NC_000008.11:144316912:G:A Identity +NM_001243564.2:c.474C>G NP_001230493.1:p.Leu158= NC_000001.11:26457823:C:G p.(Leu158=) NC_000001.11:26457823:C:G p.(Leu158=) NC_000001.11:26457823:C:G Identity +NM_001370534.1:c.174T>C NP_001357463.1:p.Ala58= NC_000016.10:74661275:A:G p.(Ala58=) NC_000016.10:74661275:A:G p.(Ala58=) NC_000016.10:74661275:A:G Identity +NM_000326.5:c.747G>C NP_000317.1:p.Thr249= NC_000015.10:89210746:C:G p.(Thr249=) NC_000015.10:89210746:C:G p.(Thr249=) NC_000015.10:89210746:C:G Identity +NM_000272.5:c.1308A>T NP_000263.2:p.Thr436= NC_000002.12:110150199:T:A p.(Thr436=) NC_000002.12:110150199:T:A p.(Thr436=) NC_000002.12:110150199:T:A Identity +NM_032119.4:c.618C>T NP_115495.3:p.Thr206= NC_000005.10:90625188:C:T p.(Thr206=) NC_000005.10:90625188:C:T p.(Thr206=) NC_000005.10:90625188:C:T Identity +NM_000181.4:c.111G>A NP_000172.2:p.Glu37= NC_000007.14:65982072:C:T p.(Glu37=) NC_000007.14:65982072:C:T p.(Glu37=) NC_000007.14:65982072:C:T Identity +NM_001145468.4:c.2505A>G NP_001138940.4:p.Ser835= NC_000022.11:24334517:A:G p.(Ser835=) NC_000022.11:24334517:A:G p.(Ser835=) NC_000022.11:24334517:A:G Identity +NM_001271052.1:c.1443C>T NP_001257981.1:p.Ile481= NC_000019.10:14752499:G:A p.(Ile481=) NC_000019.10:14752499:G:A p.(Ile481=) NC_000019.10:14752499:G:A Identity +NM_000547.6:c.1344C>A NP_000538.3:p.Ile448= NC_000002.12:1484600:C:A p.(Ile448=) NC_000002.12:1484600:C:A p.(Ile448=) NC_000002.12:1484600:C:A Identity +NM_000249.4:c.1512T>G NP_000240.1:p.Thr504= NC_000003.12:37028885:T:G p.(Thr504=) NC_000003.12:37028885:T:G p.(Thr504=) NC_000003.12:37028885:T:G Identity +NM_001080467.3:c.4248G>A NP_001073936.1:p.Leu1416= NC_000018.10:49849633:C:T p.(Leu1416=) NC_000018.10:49849633:C:T p.(Leu1416=) NC_000018.10:49849633:C:T Identity +NM_000243.3:c.636G>A NP_000234.1:p.Arg212= NC_000016.10:3254431:C:T p.(Arg212=) NC_000016.10:3254431:C:T p.(Arg212=) NC_000016.10:3254431:C:T Identity +NM_000466.3:c.3321C>T NP_000457.1:p.Ser1107= NC_000007.14:92491388:G:A p.(Ser1107=) NC_000007.14:92491388:G:A p.(Ser1107=) NC_000007.14:92491388:G:A Identity +NM_000337.6:c.870C>A NP_000328.2:p.Leu290= NC_000005.10:156759386:C:A p.(Leu290=) NC_000005.10:156759386:C:A p.(Leu290=) NC_000005.10:156759386:C:A Identity +NM_001288607.2:c.2109C>T NP_001275536.1:p.Gly703= NC_000001.11:150557992:C:T p.(Gly703=) NC_000001.11:150557992:C:T p.(Gly703=) NC_000001.11:150557992:C:T Identity +NM_000104.4:c.882C>T NP_000095.2:p.Asp294= NC_000002.12:38074506:G:A p.(Asp294=) NC_000002.12:38074506:G:A p.(Asp294=) NC_000002.12:38074506:G:A Identity +NM_001288607.2:c.2277G>A NP_001275536.1:p.Arg759= NC_000001.11:150558483:G:A p.(Arg759=) NC_000001.11:150558483:G:A p.(Arg759=) NC_000001.11:150558483:G:A Identity +NM_001330358.2:c.1050T>C NP_001317287.1:p.Leu350= NC_000001.11:11795201:A:G p.(Leu350=) NC_000001.11:11795201:A:G p.(Leu350=) NC_000001.11:11795201:A:G Identity +NM_001127218.3:c.627C>T NP_001120690.1:p.Gly209= NC_000007.14:44116969:G:A p.(Gly209=) NC_000007.14:44116969:G:A p.(Gly209=) NC_000007.14:44116969:G:A Identity +NM_001003841.3:c.1479C>A NP_001003841.1:p.Pro493= NC_000005.10:1219604:C:A p.(Pro493=) NC_000005.10:1219604:C:A p.(Pro493=) NC_000005.10:1219604:C:A Identity +NM_001142805.2:c.1653C>G NP_001136277.1:p.Gly551= NC_000023.11:153694804:C:G p.(Gly551=) NC_000023.11:153694804:C:G p.(Gly551=) NC_000023.11:153694804:C:G Identity +NM_001081676.2:c.5052T>G NP_001075145.1:p.Pro1684= NC_000002.12:165090953:A:C p.(Pro1684=) NC_000002.12:165090953:A:C p.(Pro1684=) NC_000002.12:165090953:A:C Identity +NM_017909.4:c.441A>T NP_060379.2:p.Pro147= NC_000006.12:151445370:T:A p.(Pro147=) NC_000006.12:151445370:T:A p.(Pro147=) NC_000006.12:151445370:T:A Identity +NM_001002269.2:c.234G>T NP_001002269.1:p.Leu78= NC_000009.12:37784810:C:A p.(Leu78=) NC_000009.12:37784810:C:A p.(Leu78=) NC_000009.12:37784810:C:A Identity +NM_000246.4:c.1908G>T NP_000237.2:p.Thr636= NC_000016.10:10907399:G:T p.(Thr636=) NC_000016.10:10907399:G:T p.(Thr636=) NC_000016.10:10907399:G:T Identity +NM_000492.4:c.2421A>C NP_000483.3:p.Ile807= NC_000007.14:117592587:A:C p.(Ile807=) NC_000007.14:117592587:A:C p.(Ile807=) NC_000007.14:117592587:A:C Identity +NM_007215.4:c.732T>C NP_009146.2:p.Pro244= NC_000017.11:64492729:A:G p.(Pro244=) NC_000017.11:64492729:A:G p.(Pro244=) NC_000017.11:64492729:A:G Identity +NM_001008540.2:c.855C>T NP_001008540.1:p.His285= NC_000002.12:136115084:G:A p.(His285=) NC_000002.12:136115084:G:A p.(His285=) NC_000002.12:136115084:G:A Identity +NM_001142763.2:c.1485T>C NP_001136235.1:p.Ser495= NC_000010.11:54183563:A:G p.(Ser495=) NC_000010.11:54183563:A:G p.(Ser495=) NC_000010.11:54183563:A:G Identity +NM_001317184.2:c.2145G>A NP_001304113.1:p.Leu715= NC_000016.10:68829685:G:A p.(Leu715=) NC_000016.10:68829685:G:A p.(Leu715=) NC_000016.10:68829685:G:A Identity +NM_000051.4:c.5484G>A NP_000042.3:p.Lys1828= NC_000011.10:108303016:G:A p.(Lys1828=) NC_000011.10:108303016:G:A p.(Lys1828=) NC_000011.10:108303016:G:A Identity +NM_001315529.2:c.7008G>T NP_001302458.1:p.Leu2336= NC_000021.9:46427662:G:T p.(Leu2336=) NC_000021.9:46427662:G:T p.(Leu2336=) NC_000021.9:46427662:G:T Identity +NM_001385678.1:c.1374C>A NP_001372607.1:p.Ala458= NC_000019.10:4816961:G:T p.(Ala458=) NC_000019.10:4816961:G:T p.(Ala458=) NC_000019.10:4816961:G:T Identity +NM_000548.5:c.3519C>A NP_000539.2:p.Thr1173= NC_000016.10:2080285:C:A p.(Thr1173=) NC_000016.10:2080285:C:A p.(Thr1173=) NC_000016.10:2080285:C:A Identity +NM_001353765.2:c.1657_*4del NP_001340694.1:p.Ter553GlyextTer? NC_000002.12:29193219:GAGCTCAG:G p.(Ter553GlyfsTer12) NC_000002.12:29193219:GAGCTCAG:G p.(Ter553GlyextTer11) NC_000002.12:29193219:GAGCTCA: Different +NM_001077269.1:c.1218A>T NP_001070737.1:p.Gly406= NC_000002.12:174567984:T:A p.(Gly406=) NC_000002.12:174567984:T:A p.(Gly406=) NC_000002.12:174567984:T:A Identity +NM_000426.4:c.5116C>A NP_000417.3:p.Arg1706= NC_000006.12:129391534:C:A p.(Arg1706=) NC_000006.12:129391534:C:A p.(Arg1706=) NC_000006.12:129391534:C:A Identity +NM_001886.3:c.90G>A NP_001877.1:p.Thr30= NC_000022.11:26623283:G:A p.(Thr30=) NC_000022.11:26623283:G:A p.(Thr30=) NC_000022.11:26623283:G:A Identity +NM_025179.4:c.2259G>A NP_079455.3:p.Leu753= NC_000001.11:208084418:C:T p.(Leu753=) NC_000001.11:208084418:C:T p.(Leu753=) NC_000001.11:208084418:C:T Identity +NM_001845.6:c.4770T>C NP_001836.3:p.Gly1590= NC_000013.11:110152491:A:G p.(Gly1590=) NC_000013.11:110152491:A:G p.(Gly1590=) NC_000013.11:110152491:A:G Identity +NM_017671.5:c.1956C>T NP_060141.3:p.Phe652= NC_000020.11:6077250:G:A p.(Phe652=) NC_000020.11:6077250:G:A p.(Phe652=) NC_000020.11:6077250:G:A Identity +NM_000289.6:c.789T>C NP_000280.1:p.Ala263= NC_000012.12:48134983:T:C p.(Ala263=) NC_000012.12:48134983:T:C p.(Ala263=) NC_000012.12:48134983:T:C Identity +NM_001321431.2:c.1161G>A NP_001308360.1:p.Ala387= NC_000019.10:8138180:C:T p.(Ala387=) NC_000019.10:8138180:C:T p.(Ala387=) NC_000019.10:8138180:C:T Identity +NM_001271696.3:c.249T>C NP_001258625.1:p.Ala83= NC_000023.11:75112969:A:G p.(Ala83=) NC_000023.11:75112969:A:G p.(Ala83=) NC_000023.11:75112969:A:G Identity +NM_001425246.1:c.984G>C NP_001412175.1:p.Leu328= NC_000014.9:102930303:G:C p.(Leu328=) NC_000014.9:102930303:G:C p.(Leu328=) NC_000014.9:102930303:G:C Identity +NM_015909.4:c.5979G>C NP_056993.2:p.Leu1993= NC_000002.12:15234711:C:G p.(Leu1993=) NC_000002.12:15234711:C:G p.(Leu1993=) NC_000002.12:15234711:C:G Identity +NM_017633.3:c.1311T>G NP_060103.2:p.Thr437= NC_000006.12:81749712:A:C p.(Thr437=) NC_000006.12:81749712:A:C p.(Thr437=) NC_000006.12:81749712:A:C Identity +NM_001077493.1:c.1977C>A NP_001070961.1:p.Ala659= NC_000010.11:102400954:C:A ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001113378.2:c.2520C>A NP_001106849.1:p.Arg840= NC_000015.10:89294977:C:A p.(Arg840=) NC_000015.10:89294977:C:A p.(Arg840=) NC_000015.10:89294977:C:A Identity +NM_001286414.3:c.777A>G NP_001273343.1:p.Leu259= NC_000015.10:43385843:A:G p.(Leu259=) NC_000015.10:43385843:A:G p.(Leu259=) NC_000015.10:43385843:A:G Identity +NM_017947.4:c.1311C>T NP_060417.4:p.Asn437= NC_000018.10:36213457:C:T p.(Asn437=) NC_000018.10:36213457:C:T p.(Asn437=) NC_000018.10:36213457:C:T Identity +NM_000038.6:c.6123A>G NP_000029.2:p.Glu2041= NC_000005.10:112841716:A:G p.(Glu2041=) NC_000005.10:112841716:A:G p.(Glu2041=) NC_000005.10:112841716:A:G Identity +NM_001013838.3:c.2377C>T NP_001013860.1:p.Leu793= NC_000016.10:67651463:C:T p.(Leu793=) NC_000016.10:67651463:C:T p.(Leu793=) NC_000016.10:67651463:C:T Identity +NM_001160227.2:c.2157G>A NP_001153699.1:p.Glu719= NC_000015.10:44626417:C:T p.(Glu719=) NC_000015.10:44626417:C:T p.(Glu719=) NC_000015.10:44626417:C:T Identity +NM_024577.4:c.1245G>T NP_078853.2:p.Gly415= NC_000005.10:149028486:C:A p.(Gly415=) NC_000005.10:149028486:C:A p.(Gly415=) NC_000005.10:149028486:C:A Identity +NM_000038.6:c.3231T>C NP_000029.2:p.Val1077= NC_000005.10:112838824:T:C p.(Val1077=) NC_000005.10:112838824:T:C p.(Val1077=) NC_000005.10:112838824:T:C Identity +NM_001291285.3:c.12513C>T NP_001278214.1:p.Ser4171= NC_000004.12:125479773:C:T p.(Ser4171=) NC_000004.12:125479773:C:T p.(Ser4171=) NC_000004.12:125479773:C:T Identity +NM_001035506.1:c.477C>T NP_001030583.1:p.Phe159= NC_000002.12:27053984:C:T ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001182.5:c.1194G>A NP_001173.2:p.Gly398= NC_000005.10:126554292:C:T p.(Gly398=) NC_000005.10:126554292:C:T p.(Gly398=) NC_000005.10:126554292:C:T Identity +NM_001177316.2:c.1122C>T NP_001170787.2:p.Gly374= NC_000009.12:137234443:C:T p.(Gly374=) NC_000009.12:137234443:C:T p.(Gly374=) NC_000009.12:137234443:C:T Identity +NM_207361.6:c.7050G>A NP_997244.4:p.Glu2350= NC_000013.11:38856249:G:A p.(Glu2350=) NC_000013.11:38856249:G:A p.(Glu2350=) NC_000013.11:38856249:G:A Identity +NM_001018037.2:c.5832A>T NP_001018047.1:p.Thr1944= NC_000009.12:77323184:A:T p.(Thr1944=) NC_000009.12:77323184:A:T p.(Thr1944=) NC_000009.12:77323184:A:T Identity +NM_005477.3:c.747G>A NP_005468.1:p.Ser249= NC_000015.10:73367523:C:T p.(Ser249=) NC_000015.10:73367523:C:T p.(Ser249=) NC_000015.10:73367523:C:T Identity +NM_001172643.1:c.159C>T NP_001166114.1:p.Ser53= NC_000016.10:66536996:G:A p.(Ser53=) NC_000016.10:66536996:G:A p.(Ser53=) NC_000016.10:66536996:G:A Identity +NM_000038.6:c.2091A>T NP_000029.2:p.Ala697= NC_000005.10:112837684:A:T p.(Ala697=) NC_000005.10:112837684:A:T p.(Ala697=) NC_000005.10:112837684:A:T Identity +NM_003922.4:c.3018T>C NP_003913.3:p.Ser1006= NC_000015.10:63729499:A:G p.(Ser1006=) NC_000015.10:63729499:A:G p.(Ser1006=) NC_000015.10:63729499:A:G Identity +NM_001291285.3:c.3537C>G NP_001278214.1:p.Val1179= NC_000004.12:125319947:C:G p.(Val1179=) NC_000004.12:125319947:C:G p.(Val1179=) NC_000004.12:125319947:C:G Identity +NM_002437.5:c.84C>A NP_002428.1:p.Gly28= NC_000002.12:27313095:G:T p.(Gly28=) NC_000002.12:27313095:G:T p.(Gly28=) NC_000002.12:27313095:G:T Identity +NM_000550.3:c.1335C>A NP_000541.1:p.Pro445= NC_000009.12:12708069:C:A p.(Pro445=) NC_000009.12:12708069:C:A p.(Pro445=) NC_000009.12:12708069:C:A Identity +NM_001160227.2:c.5967T>C NP_001153699.1:p.Asp1989= NC_000015.10:44572719:A:G p.(Asp1989=) NC_000015.10:44572719:A:G p.(Asp1989=) NC_000015.10:44572719:A:G Identity +NM_001375567.1:c.510C>T NP_001362496.1:p.Cys170= NC_000009.12:20764883:C:T p.(Cys170=) NC_000009.12:20764883:C:T p.(Cys170=) NC_000009.12:20764883:C:T Identity +NM_005094.4:c.1539T>G NP_005085.2:p.Gly513= NC_000009.12:128355473:T:G p.(Gly513=) NC_000009.12:128355473:T:G p.(Gly513=) NC_000009.12:128355473:T:G Identity +NM_000941.2:c.1977G>T NP_000932.3:p.Ala659= NC_000007.14:75986414:G:T ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_001316350.2:c.1524A>G NP_001303279.1:p.Leu508= NC_000001.11:231274025:A:G p.(Leu508=) NC_000001.11:231274025:A:G p.(Leu508=) NC_000001.11:231274025:A:G Identity +NM_003737.4:c.3321G>A NP_003728.1:p.Glu1107= NC_000011.10:6632190:C:T p.(Glu1107=) NC_000011.10:6632190:C:T p.(Glu1107=) NC_000011.10:6632190:C:T Identity +NM_001289395.2:c.963C>T NP_001276324.1:p.Leu321= NC_000006.12:35503838:G:A p.(Leu321=) NC_000006.12:35503838:G:A p.(Leu321=) NC_000006.12:35503838:G:A Identity +NM_001166102.2:c.639G>A NP_001159574.1:p.Lys213= NC_000011.10:67610535:G:A p.(Lys213=) NC_000011.10:67610535:G:A p.(Lys213=) NC_000011.10:67610535:G:A Identity +NM_001018088.3:c.2196G>A NP_001018098.1:p.Lys732= NC_000015.10:61978719:C:T p.(Lys732=) NC_000015.10:61978719:C:T p.(Lys732=) NC_000015.10:61978719:C:T Identity +NM_207361.6:c.9084C>G NP_997244.4:p.Gly3028= NC_000013.11:38880360:C:G p.(Gly3028=) NC_000013.11:38880360:C:G p.(Gly3028=) NC_000013.11:38880360:C:G Identity +NM_001378454.1:c.11214G>A NP_001365383.1:p.Arg3738= NC_000002.12:73573090:G:A p.(Arg3738=) NC_000002.12:73573090:G:A p.(Arg3738=) NC_000002.12:73573090:G:A Identity +NM_001288607.2:c.1647A>G NP_001275536.1:p.Ala549= NC_000001.11:150556621:A:G p.(Ala549=) NC_000001.11:150556621:A:G p.(Ala549=) NC_000001.11:150556621:A:G Identity +NM_032520.5:c.792C>G NP_115909.1:p.Thr264= NC_000016.10:1362874:C:G p.(Thr264=) NC_000016.10:1362874:C:G p.(Thr264=) NC_000016.10:1362874:C:G Identity +NM_000018.4:c.375G>A NP_000009.1:p.Leu125= NC_000017.11:7220955:G:A p.(Leu125=) NC_000017.11:7220955:G:A p.(Leu125=) NC_000017.11:7220955:G:A Identity +NM_001286130.2:c.1960C>T NP_001273059.1:p.Leu654= NC_000016.10:57917455:G:A p.(Leu654=) NC_000016.10:57917455:G:A p.(Leu654=) NC_000016.10:57917455:G:A Identity +NM_000124.4:c.1698G>A NP_000115.1:p.Leu566= NC_000010.11:49493239:C:T p.(Leu566=) NC_000010.11:49493239:C:T p.(Leu566=) NC_000010.11:49493239:C:T Identity +NM_000254.3:c.2163T>C NP_000245.2:p.Asp721= NC_000001.11:236861243:T:C p.(Asp721=) NC_000001.11:236861243:T:C p.(Asp721=) NC_000001.11:236861243:T:C Identity +NM_001079515.3:c.1539G>A NP_001072983.1:p.Gln513= NC_000001.11:235448716:G:A p.(Gln513=) NC_000001.11:235448716:G:A p.(Gln513=) NC_000001.11:235448716:G:A Identity +NM_001315529.2:c.6402C>T NP_001302458.1:p.Ser2134= NC_000021.9:46416673:C:T p.(Ser2134=) NC_000021.9:46416673:C:T p.(Ser2134=) NC_000021.9:46416673:C:T Identity +NM_001424351.1:c.2235C>G NP_001411280.1:p.Pro745= NC_000020.11:32805340:C:G p.(Pro745=) NC_000020.11:32805340:C:G p.(Pro745=) NC_000020.11:32805340:C:G Identity +NM_002471.4:c.2742G>A NP_002462.2:p.Lys914= NC_000014.9:23393851:C:T p.(Lys914=) NC_000014.9:23393851:C:T p.(Lys914=) NC_000014.9:23393851:C:T Identity +NM_017433.5:c.4806C>T NP_059129.3:p.Leu1602= NC_000010.11:26211917:C:T p.(Leu1602=) NC_000010.11:26211917:C:T p.(Leu1602=) NC_000010.11:26211917:C:T Identity +NM_032888.4:c.1536G>C NP_116277.2:p.Ser512= NC_000009.12:114169090:G:C p.(Ser512=) NC_000009.12:114169090:G:C p.(Ser512=) NC_000009.12:114169090:G:C Identity +NM_002764.4:c.378C>T NP_002755.1:p.Thr126= NC_000023.11:107640972:C:T p.(Thr126=) NC_000023.11:107640972:C:T p.(Thr126=) NC_000023.11:107640972:C:T Identity +NM_014014.5:c.4581C>A NP_054733.2:p.Ile1527= NC_000002.12:96283815:G:T p.(Ile1527=) NC_000002.12:96283815:G:T p.(Ile1527=) NC_000002.12:96283815:G:T Identity +NM_001127207.2:c.2355C>A NP_001120679.1:p.Thr785= NC_000002.12:216475378:C:A p.(Thr785=) NC_000002.12:216475378:C:A p.(Thr785=) NC_000002.12:216475378:C:A Identity +NM_001142800.2:c.2926C>T NP_001136272.1:p.Leu976= NC_000006.12:64886762:G:A p.(Leu976=) NC_000006.12:64886762:G:A p.(Leu976=) NC_000006.12:64886762:G:A Identity +NM_000433.4:c.987C>G NP_000424.2:p.Pro329= NC_000001.11:183565716:G:C p.(Pro329=) NC_000001.11:183565716:G:C p.(Pro329=) NC_000001.11:183565716:G:C Identity +NM_178859.4:c.363G>A NP_849190.2:p.Pro121= NC_000015.10:65053139:G:A p.(Pro121=) NC_000015.10:65053139:G:A p.(Pro121=) NC_000015.10:65053139:G:A Identity +NM_001278463.2:c.1542A>G NP_001265392.1:p.Glu514= NC_000012.12:32737106:A:G p.(Glu514=) NC_000012.12:32737106:A:G p.(Glu514=) NC_000012.12:32737106:A:G Identity +NM_000172.4:c.495C>T NP_000163.2:p.Pro165= NC_000003.12:50193797:C:T p.(Pro165=) NC_000003.12:50193797:C:T p.(Pro165=) NC_000003.12:50193797:C:T Identity +NM_001302453.1:c.825A>G NP_001289382.1:p.Leu275= NC_000019.10:11424005:T:C p.(Leu275=) NC_000019.10:11424005:T:C p.(Leu275=) NC_000019.10:11424005:T:C Identity +NM_015154.3:c.468T>C NP_055969.1:p.Arg156= NC_000015.10:80979455:A:G p.(Arg156=) NC_000015.10:80979455:A:G p.(Arg156=) NC_000015.10:80979455:A:G Identity +NM_014639.4:c.4581G>T NP_055454.1:p.Leu1527= NC_000005.10:95467904:C:A p.(Leu1527=) NC_000005.10:95467904:C:A p.(Leu1527=) NC_000005.10:95467904:C:A Identity +NM_001003722.2:c.1497A>G NP_001003722.1:p.Ala499= NC_000009.12:128533801:A:G p.(Ala499=) NC_000009.12:128533801:A:G p.(Ala499=) NC_000009.12:128533801:A:G Identity +NM_001193465.2:c.2628A>G NP_001180394.1:p.Val876= NC_000017.11:46034195:T:C p.(Val876=) NC_000017.11:46034195:T:C p.(Val876=) NC_000017.11:46034195:T:C Identity +NM_174889.5:c.330A>G NP_777549.1:p.Lys110= NC_000005.10:61152774:A:G p.(Lys110=) NC_000005.10:61152774:A:G p.(Lys110=) NC_000005.10:61152774:A:G Identity +NM_005198.5:c.444C>A NP_005189.2:p.Ile148= NC_000022.11:50581751:G:T p.(Ile148=) NC_000022.11:50581751:G:T p.(Ile148=) NC_000022.11:50581751:G:T Identity +NM_001244580.2:c.1302C>T NP_001231509.1:p.Ser434= NC_000007.14:98908913:C:T p.(Ser434=) NC_000007.14:98908913:C:T p.(Ser434=) NC_000007.14:98908913:C:T Identity +NM_001033055.3:c.114C>T NP_001028227.1:p.Pro38= NC_000017.11:6428488:G:A p.(Pro38=) NC_000017.11:6428488:G:A p.(Pro38=) NC_000017.11:6428488:G:A Identity +NM_001142864.4:c.6882C>T NP_001136336.2:p.Asn2294= NC_000016.10:88716602:G:A p.(Asn2294=) NC_000016.10:88716602:G:A p.(Asn2294=) NC_000016.10:88716602:G:A Identity +NM_001243254.2:c.3126C>T NP_001230183.1:p.Phe1042= NC_000011.10:9144274:G:A p.(Phe1042=) NC_000011.10:9144274:G:A p.(Phe1042=) NC_000011.10:9144274:G:A Identity +NM_000462.5:c.963A>G NP_000453.2:p.Gln321= NC_000015.10:25371219:T:C p.(Gln321=) NC_000015.10:25371219:T:C p.(Gln321=) NC_000015.10:25371219:T:C Identity +NM_001008540.2:c.375C>T NP_001008540.1:p.Tyr125= NC_000002.12:136115564:G:A p.(Tyr125=) NC_000002.12:136115564:G:A p.(Tyr125=) NC_000002.12:136115564:G:A Identity +NM_001350912.2:c.27T>C NP_001337841.1:p.Ile9= NC_000012.12:21445420:T:C p.(Ile9=) NC_000012.12:21445420:T:C p.(Ile9=) NC_000012.12:21445420:T:C Identity +NM_000202.8:c.420G>T NP_000193.1:p.Gly140= NC_000023.11:149501035:C:A p.(Gly140=) NC_000023.11:149501035:C:A p.(Gly140=) NC_000023.11:149501035:C:A Identity +NM_001321193.3:c.198T>A NP_001308122.1:p.Ile66= NC_000003.12:177053778:A:T p.(Ile66=) NC_000003.12:177053778:A:T p.(Ile66=) NC_000003.12:177053778:A:T Identity +NM_001410705.1:c.426C>T NP_001397634.1:p.Phe142= NC_000023.11:153964200:G:A p.(Phe142=) NC_000023.11:153964200:G:A p.(Phe142=) NC_000023.11:153964200:G:A Identity +NM_001081.4:c.8742G>A NP_001072.2:p.Ala2914= NC_000010.11:16890383:C:T p.(Ala2914=) NC_000010.11:16890383:C:T p.(Ala2914=) NC_000010.11:16890383:C:T Identity +NM_014510.3:c.900C>T NP_055325.2:p.Ser300= NC_000007.14:83155740:G:A p.(Ser300=) NC_000007.14:83155740:G:A p.(Ser300=) NC_000007.14:83155740:G:A Identity +NM_000018.4:c.216C>G NP_000009.1:p.Ser72= NC_000017.11:7220614:C:G p.(Ser72=) NC_000017.11:7220614:C:G p.(Ser72=) NC_000017.11:7220614:C:G Identity +NM_007129.5:c.330G>A NP_009060.2:p.Gly110= NC_000013.11:99982393:G:A p.(Gly110=) NC_000013.11:99982393:G:A p.(Gly110=) NC_000013.11:99982393:G:A Identity +NM_001166226.2:c.2883A>G NP_001159698.1:p.Ter961= NC_000005.10:123346518:T:C p.(Ter961=) NC_000005.10:123346518:T:C p.(Ter961Ter) NC_000005.10:123346518:T:C Identity +NM_001170649.2:c.900G>A NP_001164120.1:p.Pro300= NC_000023.11:65528315:C:T p.(Pro300=) NC_000023.11:65528315:C:T p.(Pro300=) NC_000023.11:65528315:C:T Identity +NM_001256125.2:c.444G>A NP_001243054.2:p.Gln148= NC_000001.11:203223238:C:T p.(Gln148=) NC_000001.11:203223238:C:T p.(Gln148=) NC_000001.11:203223238:C:T Identity +NM_001145527.2:c.540G>A NP_001138999.1:p.Gly180= NC_000009.12:137717079:G:A p.(Gly180=) NC_000009.12:137717079:G:A p.(Gly180=) NC_000009.12:137717079:G:A Identity +NM_024529.5:c.309A>G NP_078805.3:p.Ser103= NC_000001.11:193135391:A:G p.(Ser103=) NC_000001.11:193135391:A:G p.(Ser103=) NC_000001.11:193135391:A:G Identity +NM_000486.6:c.624C>A NP_000477.1:p.Pro208= NC_000012.12:49955415:C:A p.(Pro208=) NC_000012.12:49955415:C:A p.(Pro208=) NC_000012.12:49955415:C:A Identity +NM_000492.4:c.2508T>C NP_000483.3:p.Asp836= NC_000007.14:117594946:T:C p.(Asp836=) NC_000007.14:117594946:T:C p.(Asp836=) NC_000007.14:117594946:T:C Identity +NM_001172631.3:c.298A>C NP_001166102.1:p.Arg100= NC_000014.9:102407415:A:C p.(Arg100=) NC_000014.9:102407415:A:C p.(Arg100=) NC_000014.9:102407415:A:C Identity +NM_001039476.3:c.871C>T NP_001034565.1:p.Leu291= NC_000016.10:88833:G:A p.(Leu291=) NC_000016.10:88833:G:A p.(Leu291=) NC_000016.10:88833:G:A Identity +NM_000348.4:c.228C>T NP_000339.2:p.Phe76= NC_000002.12:31580672:G:A p.(Phe76=) NC_000002.12:31580672:G:A p.(Phe76=) NC_000002.12:31580672:G:A Identity +NM_001311312.2:c.393A>G NP_001298241.1:p.Lys131= NC_000002.12:85558896:T:C p.(Lys131=) NC_000002.12:85558896:T:C p.(Lys131=) NC_000002.12:85558896:T:C Identity +NM_000085.5:c.762G>C NP_000076.2:p.Ala254= NC_000001.11:16049225:G:C p.(Ala254=) NC_000001.11:16049225:G:C p.(Ala254=) NC_000001.11:16049225:G:C Identity +NM_001075098.4:c.387G>A NP_001068566.1:p.Pro129= NC_000006.12:39925708:C:T p.(Pro129=) NC_000006.12:39925708:C:T p.(Pro129=) NC_000006.12:39925708:C:T Identity +NM_014254.3:c.384T>G NP_055069.1:p.Ala128= NC_000012.12:63785027:T:G p.(Ala128=) NC_000012.12:63785027:T:G p.(Ala128=) NC_000012.12:63785027:T:G Identity +NM_001173466.2:c.138T>C NP_001166937.1:p.Pro46= NC_000012.12:53320677:A:G p.(Pro46=) NC_000012.12:53320677:A:G p.(Pro46=) NC_000012.12:53320677:A:G Identity +NM_001364440.2:c.279A>G NP_001351369.1:p.Leu93= NC_000005.10:7873521:A:G p.(Leu93=) NC_000005.10:7873521:A:G p.(Leu93=) NC_000005.10:7873521:A:G Identity +NM_000501.4:c.15G>A NP_000492.2:p.Thr5= NC_000007.14:74028201:G:A p.(Thr5=) NC_000007.14:74028201:G:A p.(Thr5=) NC_000007.14:74028201:G:A Identity +NM_001151.4:c.345T>C NP_001142.2:p.Gly115= NC_000004.12:185144996:T:C p.(Gly115=) NC_000004.12:185144996:T:C p.(Gly115=) NC_000004.12:185144996:T:C Identity +NM_000549.5:c.243T>C NP_000540.2:p.Thr81= NC_000001.11:115034052:T:C p.(Thr81=) NC_000001.11:115034052:T:C p.(Thr81=) NC_000001.11:115034052:T:C Identity +NM_001042702.5:c.471T>C NP_001036167.1:p.Cys157= NC_000002.12:178456072:T:C p.(Cys157=) NC_000002.12:178456072:T:C p.(Cys157=) NC_000002.12:178456072:T:C Identity +NM_001163771.2:c.360C>G NP_001157243.1:p.Val120= NC_000006.12:33189060:G:C p.(Val120=) NC_000006.12:33189060:G:C p.(Val120=) NC_000006.12:33189060:G:C Identity +NM_001130455.2:c.1623A>C NP_001123927.1:p.Thr541= NC_000002.12:71551137:A:C p.(Thr541=) NC_000002.12:71551137:A:C p.(Thr541=) NC_000002.12:71551137:A:C Identity +NM_015141.4:c.249G>A NP_055956.1:p.Glu83= NC_000003.12:32138609:G:A p.(Glu83=) NC_000003.12:32138609:G:A p.(Glu83=) NC_000003.12:32138609:G:A Identity +NM_004204.5:c.321C>T NP_004195.2:p.Cys107= NC_000016.10:574394:C:T p.(Cys107=) NC_000016.10:574394:C:T p.(Cys107=) NC_000016.10:574394:C:T Identity +NM_000399.5:c.1398C>T NP_000390.2:p.Leu466= NC_000010.11:62813239:G:A p.(Leu466=) NC_000010.11:62813239:G:A p.(Leu466=) NC_000010.11:62813239:G:A Identity +NM_001277742.2:c.330G>A NP_001264671.1:p.Ala110= NC_000002.12:72135293:C:T p.(Ala110=) NC_000002.12:72135293:C:T p.(Ala110=) NC_000002.12:72135293:C:T Identity +NM_006929.5:c.783G>A NP_008860.4:p.Val261= NC_000006.12:31961379:G:A p.(Val261=) NC_000006.12:31961379:G:A p.(Val261=) NC_000006.12:31961379:G:A Identity +NM_207346.3:c.1236C>T NP_997229.2:p.Gly412= NC_000017.11:75522316:C:T p.(Gly412=) NC_000017.11:75522316:C:T p.(Gly412=) NC_000017.11:75522316:C:T Identity +NM_000531.6:c.915C>A NP_000522.3:p.Pro305= NC_000023.11:38411908:C:A p.(Pro305=) NC_000023.11:38411908:C:A p.(Pro305=) NC_000023.11:38411908:C:A Identity +NM_001032280.3:c.417A>C NP_001027451.1:p.Gly139= NC_000006.12:10409945:T:G p.(Gly139=) NC_000006.12:10409945:T:G p.(Gly139=) NC_000006.12:10409945:T:G Identity +NM_000348.4:c.442T>C NP_000339.2:p.Leu148= NC_000002.12:31533605:A:G p.(Leu148=) NC_000002.12:31533605:A:G p.(Leu148=) NC_000002.12:31533605:A:G Identity +NM_001379081.2:c.2127A>G NP_001366010.1:p.Val709= NC_000009.12:14824066:T:C p.(Val709=) NC_000009.12:14824066:T:C p.(Val709=) NC_000009.12:14824066:T:C Identity +NM_001291860.2:c.13020C>T NP_001278789.1:p.Asp4340= NC_000001.11:21823474:G:A p.(Asp4340=) NC_000001.11:21823474:G:A p.(Asp4340=) NC_000001.11:21823474:G:A Identity +NM_001367624.2:c.2097G>C NP_001354553.1:p.Arg699= NC_000016.10:88429566:G:C p.(Arg699=) NC_000016.10:88429566:G:C p.(Arg699=) NC_000016.10:88429566:G:C Identity +NM_000294.3:c.690G>A NP_000285.1:p.Ser230= NC_000016.10:30756408:G:A p.(Ser230=) NC_000016.10:30756408:G:A p.(Ser230=) NC_000016.10:30756408:G:A Identity +NM_001291285.3:c.10881T>A NP_001278214.1:p.Gly3627= NC_000004.12:125451890:T:A p.(Gly3627=) NC_000004.12:125451890:T:A p.(Gly3627=) NC_000004.12:125451890:T:A Identity +NM_001276289.2:c.312C>T NP_001263218.1:p.Val104= NC_000017.11:68522889:C:T p.(Val104=) NC_000017.11:68522889:C:T p.(Val104=) NC_000017.11:68522889:C:T Identity +NM_001276468.2:c.1344G>A NP_001263397.1:p.Arg448= NC_000012.12:57626836:C:T p.(Arg448=) NC_000012.12:57626836:C:T p.(Arg448=) NC_000012.12:57626836:C:T Identity +NM_000336.3:c.54C>T NP_000327.2:p.Pro18= NC_000016.10:23348652:C:T p.(Pro18=) NC_000016.10:23348652:C:T p.(Pro18=) NC_000016.10:23348652:C:T Identity +NM_002449.5:c.591G>A NP_002440.2:p.Ala197= NC_000005.10:174729369:G:A p.(Ala197=) NC_000005.10:174729369:G:A p.(Ala197=) NC_000005.10:174729369:G:A Identity +NM_005245.4:c.9105C>T NP_005236.2:p.Asp3035= NC_000004.12:186614314:G:A p.(Asp3035=) NC_000004.12:186614314:G:A p.(Asp3035=) NC_000004.12:186614314:G:A Identity +NM_001351059.2:c.1470G>A NP_001337988.1:p.Leu490= NC_000011.10:68050613:G:A p.(Leu490=) NC_000011.10:68050613:G:A p.(Leu490=) NC_000011.10:68050613:G:A Identity +NM_000143.4:c.1137A>G NP_000134.2:p.Ala379= NC_000001.11:241502541:T:C p.(Ala379=) NC_000001.11:241502541:T:C p.(Ala379=) NC_000001.11:241502541:T:C Identity +NM_001130455.2:c.3192G>A NP_001123927.1:p.Glu1064= NC_000002.12:71574211:G:A p.(Glu1064=) NC_000002.12:71574211:G:A p.(Glu1064=) NC_000002.12:71574211:G:A Identity +NM_001033024.2:c.1182C>T NP_001028196.1:p.Ser394= NC_000022.11:32498379:C:T p.(Ser394=) NC_000022.11:32498379:C:T p.(Ser394=) NC_000022.11:32498379:C:T Identity +NM_020884.7:c.5241G>A NP_065935.4:p.Glu1747= NC_000020.11:35000829:G:A p.(Glu1747=) NC_000020.11:35000829:G:A p.(Glu1747=) NC_000020.11:35000829:G:A Identity +NM_000550.3:c.267C>G NP_000541.1:p.Val89= NC_000009.12:12694262:C:G p.(Val89=) NC_000009.12:12694262:C:G p.(Val89=) NC_000009.12:12694262:C:G Identity +NM_005630.3:c.1917G>A NP_005621.2:p.Ala639= NC_000003.12:133934727:C:T p.(Ala639=) NC_000003.12:133934727:C:T p.(Ala639=) NC_000003.12:133934727:C:T Identity +NM_153006.3:c.957G>A NP_694551.1:p.Val319= NC_000017.11:44006569:G:A p.(Val319=) NC_000017.11:44006569:G:A p.(Val319=) NC_000017.11:44006569:G:A Identity +NM_001374385.1:c.1267C>T NP_001361314.1:p.Leu423= NC_000018.10:57688460:G:A p.(Leu423=) NC_000018.10:57688460:G:A p.(Leu423=) NC_000018.10:57688460:G:A Identity +NM_001385197.1:c.2343C>T NP_001372126.1:p.Pro781= NC_000019.10:10357886:G:A p.(Pro781=) NC_000019.10:10357886:G:A p.(Pro781=) NC_000019.10:10357886:G:A Identity +NM_001290185.2:c.1602C>T NP_001277114.1:p.Asn534= NC_000011.10:119077936:C:T p.(Asn534=) NC_000011.10:119077936:C:T p.(Asn534=) NC_000011.10:119077936:C:T Identity +NM_001440.4:c.2103G>A NP_001431.1:p.Leu701= NC_000008.11:28718161:G:A p.(Leu701=) NC_000008.11:28718161:G:A p.(Leu701=) NC_000008.11:28718161:G:A Identity +NM_000494.4:c.3456G>C NP_000485.3:p.Gly1152= NC_000010.11:104035525:C:G p.(Gly1152=) NC_000010.11:104035525:C:G p.(Gly1152=) NC_000010.11:104035525:C:G Identity +NM_001845.6:c.4554C>T NP_001836.3:p.Asp1518= NC_000013.11:110161277:G:A p.(Asp1518=) NC_000013.11:110161277:G:A p.(Asp1518=) NC_000013.11:110161277:G:A Identity +NM_001258206.2:c.582G>A NP_001245135.1:p.Lys194= NC_000019.10:6822441:G:A p.(Lys194=) NC_000019.10:6822441:G:A p.(Lys194=) NC_000019.10:6822441:G:A Identity +NM_001961.4:c.1614C>T NP_001952.1:p.Ile538= NC_000019.10:3979427:G:A p.(Ile538=) NC_000019.10:3979427:G:A p.(Ile538=) NC_000019.10:3979427:G:A Identity +NM_001018037.2:c.174A>G NP_001018047.1:p.Lys58= NC_000009.12:77201393:A:G p.(Lys58=) NC_000009.12:77201393:A:G p.(Lys58=) NC_000009.12:77201393:A:G Identity +NM_001305275.2:c.4683G>T NP_001292204.1:p.Gly1561= NC_000001.11:1049733:G:T p.(Gly1561=) NC_000001.11:1049733:G:T p.(Gly1561=) NC_000001.11:1049733:G:T Identity +NM_004482.4:c.816G>A NP_004473.2:p.Thr272= NC_000002.12:165761926:C:T p.(Thr272=) NC_000002.12:165761926:C:T p.(Thr272=) NC_000002.12:165761926:C:T Identity +NM_000920.4:c.2862C>T NP_000911.2:p.Val954= NC_000011.10:66849972:G:A p.(Val954=) NC_000011.10:66849972:G:A p.(Val954=) NC_000011.10:66849972:G:A Identity +NM_001172631.3:c.975A>G NP_001166102.1:p.Gly325= NC_000014.9:102428272:A:G p.(Gly325=) NC_000014.9:102428272:A:G p.(Gly325=) NC_000014.9:102428272:A:G Identity +NM_016239.4:c.4773T>C NP_057323.3:p.Gly1591= NC_000017.11:18136679:T:C p.(Gly1591=) NC_000017.11:18136679:T:C p.(Gly1591=) NC_000017.11:18136679:T:C Identity +NM_000254.3:c.2562T>C NP_000245.2:p.Ile854= NC_000001.11:236874813:T:C p.(Ile854=) NC_000001.11:236874813:T:C p.(Ile854=) NC_000001.11:236874813:T:C Identity +NM_001025356.3:c.1401C>T NP_001020527.2:p.Ile467= NC_000012.12:45401808:C:T p.(Ile467=) NC_000012.12:45401808:C:T p.(Ile467=) NC_000012.12:45401808:C:T Identity +NM_144672.4:c.24C>T NP_653273.3:p.Tyr8= NC_000016.10:21678537:C:T p.(Tyr8=) NC_000016.10:21678537:C:T p.(Tyr8=) NC_000016.10:21678537:C:T Identity +NM_001190992.2:c.1599A>G NP_001177921.1:p.Lys533= NC_000003.12:155828260:T:C p.(Lys533=) NC_000003.12:155828260:T:C p.(Lys533=) NC_000003.12:155828260:T:C Identity +NM_198834.3:c.216C>T NP_942131.1:p.Asn72= NC_000017.11:37330294:G:A p.(Asn72=) NC_000017.11:37330294:G:A p.(Asn72=) NC_000017.11:37330294:G:A Identity +NM_001321309.2:c.63A>G NP_001308238.1:p.Gly21= NC_000003.12:123737540:T:C p.(Gly21=) NC_000003.12:123737540:T:C p.(Gly21=) NC_000003.12:123737540:T:C Identity +NM_001378454.1:c.7170T>C NP_001365383.1:p.Ser2390= NC_000002.12:73453696:T:C p.(Ser2390=) NC_000002.12:73453696:T:C p.(Ser2390=) NC_000002.12:73453696:T:C Identity +NM_001039590.3:c.1773G>A NP_001034679.2:p.Gln591= NC_000023.11:41152956:G:A p.(Gln591=) NC_000023.11:41152956:G:A p.(Gln591=) NC_000023.11:41152956:G:A Identity +NM_152309.3:c.1281A>T NP_689522.2:p.Thr427= NC_000010.11:96645566:T:A p.(Thr427=) NC_000010.11:96645566:T:A p.(Thr427=) NC_000010.11:96645566:T:A Identity +NM_002439.5:c.738A>G NP_002430.3:p.Ala246= NC_000005.10:80670254:A:G p.(Ala246=) NC_000005.10:80670254:A:G p.(Ala246=) NC_000005.10:80670254:A:G Identity +NM_000094.4:c.5121G>T NP_000085.1:p.Arg1707= NC_000003.12:48580033:C:A p.(Arg1707=) NC_000003.12:48580033:C:A p.(Arg1707=) NC_000003.12:48580033:C:A Identity +NM_017807.4:c.381C>A NP_060277.1:p.Thr127= NC_000014.9:20452003:G:T p.(Thr127=) NC_000014.9:20452003:G:T p.(Thr127=) NC_000014.9:20452003:G:T Identity +NM_001378454.1:c.7485T>C NP_001365383.1:p.His2495= NC_000002.12:73454011:T:C p.(His2495=) NC_000002.12:73454011:T:C p.(His2495=) NC_000002.12:73454011:T:C Identity +NM_032119.4:c.5133G>C NP_115495.3:p.Gly1711= NC_000005.10:90675264:G:C p.(Gly1711=) NC_000005.10:90675264:G:C p.(Gly1711=) NC_000005.10:90675264:G:C Identity +NM_015073.3:c.5094G>A NP_055888.1:p.Pro1698= NC_000019.10:38201970:G:A p.(Pro1698=) NC_000019.10:38201970:G:A p.(Pro1698=) NC_000019.10:38201970:G:A Identity +NM_001202431.2:c.54A>C NP_001189360.1:p.Thr18= NC_000001.11:45518989:T:G p.(Thr18=) NC_000001.11:45518989:T:G p.(Thr18=) NC_000001.11:45518989:T:G Identity +NM_001321299.2:c.270C>T NP_001308228.1:p.Leu90= NC_000017.11:42785283:C:T p.(Leu90=) NC_000017.11:42785283:C:T p.(Leu90=) NC_000017.11:42785283:C:T Identity +NM_001244580.2:c.3108C>T NP_001231509.1:p.Pro1036= NC_000007.14:98927298:C:T p.(Pro1036=) NC_000007.14:98927298:C:T p.(Pro1036=) NC_000007.14:98927298:C:T Identity +NM_000093.5:c.5358G>A NP_000084.3:p.Val1786= NC_000009.12:134835191:G:A p.(Val1786=) NC_000009.12:134835191:G:A p.(Val1786=) NC_000009.12:134835191:G:A Identity +NM_004963.4:c.255G>A NP_004954.2:p.Ser85= NC_000012.12:14688025:C:T p.(Ser85=) NC_000012.12:14688025:C:T p.(Ser85=) NC_000012.12:14688025:C:T Identity +NM_001368062.3:c.999T>C NP_001354991.2:p.His333= NC_000012.12:80239385:T:C p.(His333=) NC_000012.12:80239385:T:C p.(His333=) NC_000012.12:80239385:T:C Identity +NM_005619.5:c.108G>A NP_005610.1:p.Glu36= NC_000019.10:45494976:C:T p.(Glu36=) NC_000019.10:45494976:C:T p.(Glu36=) NC_000019.10:45494976:C:T Identity +NM_001123226.2:c.1107G>A NP_001116698.1:p.Glu369= NC_000006.12:73480103:G:A p.(Glu369=) NC_000006.12:73480103:G:A p.(Glu369=) NC_000006.12:73480103:G:A Identity +NM_002238.4:c.540G>A NP_002229.1:p.Lys180= NC_000001.11:211082797:C:T p.(Lys180=) NC_000001.11:211082797:C:T p.(Lys180=) NC_000001.11:211082797:C:T Identity +NM_001385907.1:c.57C>G NP_001372836.1:p.Thr19= NC_000009.12:32526109:G:C p.(Thr19=) NC_000009.12:32526109:G:C p.(Thr19=) NC_000009.12:32526109:G:C Identity +NM_000181.4:c.75C>T NP_000172.2:p.Gly25= NC_000007.14:65982108:G:A p.(Gly25=) NC_000007.14:65982108:G:A p.(Gly25=) NC_000007.14:65982108:G:A Identity +NM_014384.3:c.822C>T NP_055199.1:p.Asn274= NC_000011.10:134261159:C:T p.(Asn274=) NC_000011.10:134261159:C:T p.(Asn274=) NC_000011.10:134261159:C:T Identity +NM_000557.5:c.381G>A NP_000548.2:p.Gln127= NC_000020.11:35437547:C:T p.(Gln127=) NC_000020.11:35437547:C:T p.(Gln127=) NC_000020.11:35437547:C:T Identity +NM_001318381.2:c.1638G>A NP_001305310.1:p.Lys546= NC_000009.12:100284460:G:A p.(Lys546=) NC_000009.12:100284460:G:A p.(Lys546=) NC_000009.12:100284460:G:A Identity +NM_000217.3:c.807G>A NP_000208.2:p.Leu269= NC_000012.12:4912184:G:A p.(Leu269=) NC_000012.12:4912184:G:A p.(Leu269=) NC_000012.12:4912184:G:A Identity +NM_001168378.1:c.1113C>T NP_001161850.1:p.Ser371= NC_000003.12:147390971:G:A p.(Ser371=) NC_000003.12:147390971:G:A p.(Ser371=) NC_000003.12:147390971:G:A Identity +NM_001372.4:c.5691G>C NP_001363.2:p.Ser1897= NC_000017.11:11719471:G:C p.(Ser1897=) NC_000017.11:11719471:G:C p.(Ser1897=) NC_000017.11:11719471:G:C Identity +NM_001013703.4:c.1326G>A NP_001013725.2:p.Thr442= NC_000015.10:39967651:G:A p.(Thr442=) NC_000015.10:39967651:G:A p.(Thr442=) NC_000015.10:39967651:G:A Identity +NM_207361.6:c.8805A>G NP_997244.4:p.Ala2935= NC_000013.11:38878266:A:G p.(Ala2935=) NC_000013.11:38878266:A:G p.(Ala2935=) NC_000013.11:38878266:A:G Identity +NM_006088.6:c.1146C>T NP_006079.1:p.Ser382= NC_000009.12:137243363:C:T p.(Ser382=) NC_000009.12:137243363:C:T p.(Ser382=) NC_000009.12:137243363:C:T Identity +NM_001161683.2:c.336T>C NP_001155155.1:p.Phe112= NC_000016.10:21687585:T:C p.(Phe112=) NC_000016.10:21687585:T:C p.(Phe112=) NC_000016.10:21687585:T:C Identity +NM_000293.3:c.1686A>G NP_000284.1:p.Thr562= NC_000016.10:47648609:A:G p.(Thr562=) NC_000016.10:47648609:A:G p.(Thr562=) NC_000016.10:47648609:A:G Identity +NM_001136540.2:c.195T>C NP_001130012.1:p.Ser65= NC_000022.11:36261602:T:C p.(Ser65=) NC_000022.11:36261602:T:C p.(Ser65=) NC_000022.11:36261602:T:C Identity +NM_001318918.2:c.969C>T NP_001305847.1:p.His323= NC_000016.10:4336917:C:T p.(His323=) NC_000016.10:4336917:C:T p.(His323=) NC_000016.10:4336917:C:T Identity +NM_001114636.2:c.480A>G NP_001108108.1:p.Ala160= NC_000002.12:58198653:T:C p.(Ala160=) NC_000002.12:58198653:T:C p.(Ala160=) NC_000002.12:58198653:T:C Identity +NM_001321135.2:c.174G>A NP_001308064.1:p.Val58= NC_000015.10:77018492:G:A p.(Val58=) NC_000015.10:77018492:G:A p.(Val58=) NC_000015.10:77018492:G:A Identity +NM_001330588.2:c.1206A>G NP_001317517.1:p.Leu402= NC_000013.11:102630156:A:G p.(Leu402=) NC_000013.11:102630156:A:G p.(Leu402=) NC_000013.11:102630156:A:G Identity +NM_000426.4:c.2037G>A NP_000417.3:p.Ala679= NC_000006.12:129252235:G:A p.(Ala679=) NC_000006.12:129252235:G:A p.(Ala679=) NC_000006.12:129252235:G:A Identity +NM_001242385.2:c.870A>G NP_001229314.1:p.Leu290= NC_000006.12:10796270:T:C p.(Leu290=) NC_000006.12:10796270:T:C p.(Leu290=) NC_000006.12:10796270:T:C Identity +NM_032444.4:c.3480G>A NP_115820.2:p.Glu1160= NC_000016.10:3590157:C:T p.(Glu1160=) NC_000016.10:3590157:C:T p.(Glu1160=) NC_000016.10:3590157:C:T Identity +NM_001301128.2:c.564G>A NP_001288057.1:p.Pro188= NC_000007.14:78521619:C:T p.(Pro188=) NC_000007.14:78521619:C:T p.(Pro188=) NC_000007.14:78521619:C:T Identity +NM_173500.4:c.72G>A NP_775771.3:p.Leu24= NC_000015.10:42872755:C:T p.(Leu24=) NC_000015.10:42872755:C:T p.(Leu24=) NC_000015.10:42872755:C:T Identity +NM_001160227.2:c.85C>T NP_001153699.1:p.Leu29= NC_000015.10:44663562:G:A p.(Leu29=) NC_000015.10:44663562:G:A p.(Leu29=) NC_000015.10:44663562:G:A Identity +NM_001005207.5:c.1176A>G NP_001005207.1:p.Pro392= NC_000017.11:59056897:T:C p.(Pro392=) NC_000017.11:59056897:T:C p.(Pro392=) NC_000017.11:59056897:T:C Identity +NM_001321431.2:c.270C>T NP_001308360.1:p.Cys90= NC_000019.10:8146205:G:A p.(Cys90=) NC_000019.10:8146205:G:A p.(Cys90=) NC_000019.10:8146205:G:A Identity +NM_001447.3:c.5019C>T NP_001438.1:p.Ile1673= NC_000005.10:151546107:G:A p.(Ile1673=) NC_000005.10:151546107:G:A p.(Ile1673=) NC_000005.10:151546107:G:A Identity +NM_001393363.1:c.183C>A NP_001380292.1:p.Ala61= NC_000003.12:33114259:C:A p.(Ala61=) NC_000003.12:33114259:C:A p.(Ala61=) NC_000003.12:33114259:C:A Identity +NM_001374321.1:c.1131C>T NP_001361250.1:p.Ala377= NC_000008.11:100213123:C:T p.(Ala377=) NC_000008.11:100213123:C:T p.(Ala377=) NC_000008.11:100213123:C:T Identity +NM_001293197.2:c.82C>T NP_001280126.1:p.Leu28= NC_000016.10:681289:C:T p.(Leu28=) NC_000016.10:681289:C:T p.(Leu28=) NC_000016.10:681289:C:T Identity +NM_000111.3:c.597A>T NP_000102.1:p.Gly199= NC_000007.14:107789661:T:A p.(Gly199=) NC_000007.14:107789661:T:A p.(Gly199=) NC_000007.14:107789661:T:A Identity +NM_001063.4:c.177G>A NP_001054.2:p.Val59= NC_000003.12:133748544:G:A p.(Val59=) NC_000003.12:133748544:G:A p.(Val59=) NC_000003.12:133748544:G:A Identity +NM_001321431.2:c.246C>T NP_001308360.1:p.Val82= NC_000019.10:8147107:G:A p.(Val82=) NC_000019.10:8147107:G:A p.(Val82=) NC_000019.10:8147107:G:A Identity +NM_001372.4:c.6309C>T NP_001363.2:p.Val2103= NC_000017.11:11744993:C:T p.(Val2103=) NC_000017.11:11744993:C:T p.(Val2103=) NC_000017.11:11744993:C:T Identity +NM_001201484.2:c.414C>T NP_001188413.1:p.Leu138= NC_000009.12:35095151:G:A p.(Leu138=) NC_000009.12:35095151:G:A p.(Leu138=) NC_000009.12:35095151:G:A Identity +NM_001160227.2:c.5604T>C NP_001153699.1:p.Asn1868= NC_000015.10:44584075:A:G p.(Asn1868=) NC_000015.10:44584075:A:G p.(Asn1868=) NC_000015.10:44584075:A:G Identity +NM_001080463.2:c.10359A>T NP_001073932.1:p.Thr3453= NC_000011.10:103256116:A:T p.(Thr3453=) NC_000011.10:103256116:A:T p.(Thr3453=) NC_000011.10:103256116:A:T Identity +NM_001042702.5:c.895T>C NP_001036167.1:p.Leu299= NC_000002.12:178461109:T:C p.(Leu299=) NC_000002.12:178461109:T:C p.(Leu299=) NC_000002.12:178461109:T:C Identity +NM_001411067.1:c.1989G>A NP_001397996.1:p.Arg663= NC_000017.11:8232431:C:T p.(Arg663=) NC_000017.11:8232431:C:T p.(Arg663=) NC_000017.11:8232431:C:T Identity +NM_001080442.3:c.444C>T NP_001073911.1:p.Asp148= NC_000016.10:84033413:G:A p.(Asp148=) NC_000016.10:84033413:G:A p.(Asp148=) NC_000016.10:84033413:G:A Identity +NM_000244.4:c.42C>T NP_000235.3:p.Arg14= NC_000011.10:64810067:G:A p.(Arg14=) NC_000011.10:64810067:G:A p.(Arg14=) NC_000011.10:64810067:G:A Identity +NM_001002269.2:c.396T>C NP_001002269.1:p.Asp132= NC_000009.12:37783991:A:G p.(Asp132=) NC_000009.12:37783991:A:G p.(Asp132=) NC_000009.12:37783991:A:G Identity +NM_001062.4:c.180C>T NP_001053.2:p.Ser60= NC_000011.10:59863985:G:A p.(Ser60=) NC_000011.10:59863985:G:A p.(Ser60=) NC_000011.10:59863985:G:A Identity +NM_004525.3:c.2544T>A NP_004516.2:p.Pro848= NC_000002.12:169257218:A:T p.(Pro848=) NC_000002.12:169257218:A:T p.(Pro848=) NC_000002.12:169257218:A:T Identity +NM_001271938.2:c.5478C>T NP_001258867.1:p.Pro1826= NC_000019.10:42359231:C:T p.(Pro1826=) NC_000019.10:42359231:C:T p.(Pro1826=) NC_000019.10:42359231:C:T Identity +NM_001280787.1:c.495C>T NP_001267716.1:p.Tyr165= NC_000009.12:133352071:G:A p.(Tyr165=) NC_000009.12:133352071:G:A p.(Tyr165=) NC_000009.12:133352071:G:A Identity +NM_001365999.1:c.99T>G NP_001352928.1:p.Ala33= NC_000001.11:43403247:T:G p.(Ala33=) NC_000001.11:43403247:T:G p.(Ala33=) NC_000001.11:43403247:T:G Identity +NM_004501.3:c.681T>A NP_004492.2:p.Val227= NC_000001.11:244862683:A:T p.(Val227=) NC_000001.11:244862683:A:T p.(Val227=) NC_000001.11:244862683:A:T Identity +NM_001200001.2:c.762G>C NP_001186930.1:p.Gly254= NC_000001.11:119987071:C:G p.(Gly254=) NC_000001.11:119987071:C:G p.(Gly254=) NC_000001.11:119987071:C:G Identity +NM_002471.4:c.1575C>A NP_002462.2:p.Ile525= NC_000014.9:23400261:G:T p.(Ile525=) NC_000014.9:23400261:G:T p.(Ile525=) NC_000014.9:23400261:G:T Identity +NM_004807.3:c.291G>T NP_004798.3:p.Thr97= NC_000002.12:128318272:C:A p.(Thr97=) NC_000002.12:128318272:C:A p.(Thr97=) NC_000002.12:128318272:C:A Identity +NM_000359.3:c.2316C>T NP_000350.1:p.Ser772= NC_000014.9:24249450:G:A p.(Ser772=) NC_000014.9:24249450:G:A p.(Ser772=) NC_000014.9:24249450:G:A Identity +NM_014727.3:c.5427C>T NP_055542.1:p.Ala1809= NC_000019.10:35730856:C:T p.(Ala1809=) NC_000019.10:35730856:C:T p.(Ala1809=) NC_000019.10:35730856:C:T Identity +NM_001077525.3:c.54T>C NP_001070993.1:p.Ser18= NC_000003.12:9649636:T:C p.(Ser18=) NC_000003.12:9649636:T:C p.(Ser18=) NC_000003.12:9649636:T:C Identity +NM_001999.4:c.2787G>A NP_001990.2:p.Gly929= NC_000005.10:128350892:C:T p.(Gly929=) NC_000005.10:128350892:C:T p.(Gly929=) NC_000005.10:128350892:C:T Identity +NM_001378454.1:c.7866C>T NP_001365383.1:p.Cys2622= NC_000002.12:73489824:C:T p.(Cys2622=) NC_000002.12:73489824:C:T p.(Cys2622=) NC_000002.12:73489824:C:T Identity +NM_001004426.3:c.15C>T NP_001004426.1:p.Gly5= NC_000022.11:38169411:G:A p.(Gly5=) NC_000022.11:38169411:G:A p.(Gly5=) NC_000022.11:38169411:G:A Identity +NM_014244.5:c.834G>A NP_055059.2:p.Val278= NC_000005.10:179207569:C:T p.(Val278=) NC_000005.10:179207569:C:T p.(Val278=) NC_000005.10:179207569:C:T Identity +NM_032119.4:c.14556G>A NP_115495.3:p.Leu4852= NC_000005.10:90802776:G:A p.(Leu4852=) NC_000005.10:90802776:G:A p.(Leu4852=) NC_000005.10:90802776:G:A Identity +NM_001146702.2:c.3579A>G NP_001140174.1:p.Ala1193= NC_000023.11:53194396:T:C p.(Ala1193=) NC_000023.11:53194396:T:C p.(Ala1193=) NC_000023.11:53194396:T:C Identity +NM_001286834.3:c.294G>A NP_001273763.1:p.Pro98= NC_000002.12:3552180:C:T p.(Pro98=) NC_000002.12:3552180:C:T p.(Pro98=) NC_000002.12:3552180:C:T Identity +NM_000533.5:c.744A>T NP_000524.3:p.Ala248= NC_000023.11:103789379:A:T p.(Ala248=) NC_000023.11:103789379:A:T p.(Ala248=) NC_000023.11:103789379:A:T Identity +NM_021939.4:c.825C>T NP_068758.3:p.Leu275= NC_000017.11:41819306:C:T p.(Leu275=) NC_000017.11:41819306:C:T p.(Leu275=) NC_000017.11:41819306:C:T Identity +NM_001425160.1:c.336A>G NP_001412089.1:p.Val112= NC_000011.10:126272997:A:G p.(Val112=) NC_000011.10:126272997:A:G p.(Val112=) NC_000011.10:126272997:A:G Identity +NM_001346813.1:c.4356G>A NP_001333742.1:p.Ser1452= NC_000006.12:157200829:G:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001040613.3:c.177C>T NP_001035703.1:p.Ala59= NC_000008.11:73976457:C:T p.(Ala59=) NC_000008.11:73976457:C:T p.(Ala59=) NC_000008.11:73976457:C:T Identity +NM_030773.4:c.261C>T NP_110400.1:p.Pro87= NC_000020.11:59023583:C:T p.(Pro87=) NC_000020.11:59023583:C:T p.(Pro87=) NC_000020.11:59023583:C:T Identity +NM_007123.6:c.99A>G NP_009054.6:p.Ser33= NC_000001.11:216422237:T:C p.(Ser33=) NC_000001.11:216422237:T:C p.(Ser33=) NC_000001.11:216422237:T:C Identity +NM_001271769.2:c.2685C>T NP_001258698.1:p.Ser895= NC_000005.10:78034422:G:A p.(Ser895=) NC_000005.10:78034422:G:A p.(Ser895=) NC_000005.10:78034422:G:A Identity +NM_001258205.2:c.2259G>A NP_001245134.1:p.Pro753= NC_000017.11:3514611:C:T p.(Pro753=) NC_000017.11:3514611:C:T p.(Pro753=) NC_000017.11:3514611:C:T Identity +NM_001387438.1:c.372C>T NP_001374367.1:p.Cys124= NC_000019.10:18869343:G:A p.(Cys124=) NC_000019.10:18869343:G:A p.(Cys124=) NC_000019.10:18869343:G:A Identity +NM_001365999.1:c.1938C>T NP_001352928.1:p.Pro646= NC_000001.11:43422783:C:T p.(Pro646=) NC_000001.11:43422783:C:T p.(Pro646=) NC_000001.11:43422783:C:T Identity +NM_004525.3:c.4605C>T NP_004516.2:p.Val1535= NC_000002.12:169237188:G:A p.(Val1535=) NC_000002.12:169237188:G:A p.(Val1535=) NC_000002.12:169237188:G:A Identity +NM_001354263.2:c.2631G>A NP_001341192.1:p.Lys877= NC_000009.12:137800923:G:A p.(Lys877=) NC_000009.12:137800923:G:A p.(Lys877=) NC_000009.12:137800923:G:A Identity +NM_001042517.2:c.2049G>A NP_001035982.1:p.Glu683= NC_000013.11:59969968:C:T p.(Glu683=) NC_000013.11:59969968:C:T p.(Glu683=) NC_000013.11:59969968:C:T Identity +NM_057088.3:c.1827C>T NP_476429.2:p.Asn609= NC_000012.12:52790101:G:A p.(Asn609=) NC_000012.12:52790101:G:A p.(Asn609=) NC_000012.12:52790101:G:A Identity +NM_000276.4:c.2106C>T NP_000267.2:p.Leu702= NC_000023.11:129576542:C:T p.(Leu702=) NC_000023.11:129576542:C:T p.(Leu702=) NC_000023.11:129576542:C:T Identity +NM_001100112.2:c.1542C>T NP_001093582.1:p.Ile514= NC_000017.11:10537709:G:A p.(Ile514=) NC_000017.11:10537709:G:A p.(Ile514=) NC_000017.11:10537709:G:A Identity +NM_000028.3:c.276G>A NP_000019.2:p.Gln92= NC_000001.11:99861695:G:A p.(Gln92=) NC_000001.11:99861695:G:A p.(Gln92=) NC_000001.11:99861695:G:A Identity +NM_001301237.2:c.718T>C NP_001288166.1:p.Leu240= NC_000001.11:41002250:T:C p.(Leu240=) NC_000001.11:41002250:T:C p.(Leu240=) NC_000001.11:41002250:T:C Identity +NM_001410875.1:c.39C>T NP_001397804.1:p.Gly13= NC_000006.12:33313862:G:A p.(Gly13=) NC_000006.12:33313862:G:A p.(Gly13=) NC_000006.12:33313862:G:A Identity +NM_000094.4:c.2385C>A NP_000085.1:p.Thr795= NC_000003.12:48588924:G:T p.(Thr795=) NC_000003.12:48588924:G:T p.(Thr795=) NC_000003.12:48588924:G:T Identity +NM_001321282.2:c.399G>A NP_001308211.1:p.Gln133= NC_000019.10:49189078:G:A p.(Gln133=) NC_000019.10:49189078:G:A p.(Gln133=) NC_000019.10:49189078:G:A Identity +NM_001368263.1:c.1977C>T NP_001355192.1:p.Ile659= NC_000003.12:45516208:C:T p.(Ile659=) NC_000003.12:45516208:C:T p.(Ile659=) NC_000003.12:45516208:C:T Identity +NM_002234.4:c.528C>T NP_002225.2:p.Leu176= NC_000012.12:5044674:C:T p.(Leu176=) NC_000012.12:5044674:C:T p.(Leu176=) NC_000012.12:5044674:C:T Identity +NM_000540.3:c.111C>T NP_000531.2:p.Ala37= NC_000019.10:38440809:C:T p.(Ala37=) NC_000019.10:38440809:C:T p.(Ala37=) NC_000019.10:38440809:C:T Identity +NM_005431.2:c.63_65dup NP_005422.1:p.Arg21_Ser22insArg NC_000007.14:152660756:CTTCT:CTTCTTCT p.(Arg21dup) NC_000007.14:152660756:CTTCT:CTTCTTCT p.(Arg21dup) ERR:SPDI Analogous +NM_000507.4:c.138T>C NP_000498.2:p.Ser46= NC_000009.12:94639172:A:G p.(Ser46=) NC_000009.12:94639172:A:G p.(Ser46=) NC_000009.12:94639172:A:G Identity +NM_000294.3:c.618C>T NP_000285.1:p.Thr206= NC_000016.10:30756242:C:T p.(Thr206=) NC_000016.10:30756242:C:T p.(Thr206=) NC_000016.10:30756242:C:T Identity +NM_001081640.2:c.2118A>G NP_001075109.1:p.Leu706= NC_000008.11:47929112:T:C p.(Leu706=) NC_000008.11:47929112:T:C p.(Leu706=) NC_000008.11:47929112:T:C Identity +NM_001424108.1:c.3012G>A NP_001411037.1:p.Val1004= NC_000006.12:33171532:C:T p.(Val1004=) NC_000006.12:33171532:C:T p.(Val1004=) NC_000006.12:33171532:C:T Identity +NM_000941.2:c.1210C>T NP_000932.3:p.Leu404= NC_000007.14:75984919:C:T ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_001280787.1:c.129C>A NP_001267716.1:p.Ile43= NC_000009.12:133353807:G:T p.(Ile43=) NC_000009.12:133353807:G:T p.(Ile43=) NC_000009.12:133353807:G:T Identity +NM_001184.4:c.127C>A NP_001175.2:p.Arg43= NC_000003.12:142568086:G:T p.(Arg43=) NC_000003.12:142568086:G:T p.(Arg43=) NC_000003.12:142568086:G:T Identity +NM_000130.5:c.4371T>C NP_000121.2:p.Pro1457= NC_000001.11:169540718:A:G p.(Pro1457=) NC_000001.11:169540718:A:G p.(Pro1457=) NC_000001.11:169540718:A:G Identity +NM_001368062.3:c.5730G>A NP_001354991.2:p.Leu1910= NC_000012.12:80356473:G:A p.(Leu1910=) NC_000012.12:80356473:G:A p.(Leu1910=) NC_000012.12:80356473:G:A Identity +NM_000540.3:c.6423G>A NP_000531.2:p.Ala2141= NC_000019.10:38494499:G:A p.(Ala2141=) NC_000019.10:38494499:G:A p.(Ala2141=) NC_000019.10:38494499:G:A Identity +NM_018451.5:c.1530C>T NP_060921.3:p.Cys510= NC_000013.11:24906507:G:A p.(Cys510=) NC_000013.11:24906507:G:A p.(Cys510=) NC_000013.11:24906507:G:A Identity +NM_001374321.1:c.2478A>T NP_001361250.1:p.Ala826= NC_000008.11:100240599:A:T p.(Ala826=) NC_000008.11:100240599:A:T p.(Ala826=) NC_000008.11:100240599:A:T Identity +NM_001367624.2:c.3027G>C NP_001354553.1:p.Ala1009= NC_000016.10:88430496:G:C p.(Ala1009=) NC_000016.10:88430496:G:C p.(Ala1009=) NC_000016.10:88430496:G:C Identity +NM_004482.4:c.1173T>C NP_004473.2:p.Asn391= NC_000002.12:165758764:A:G p.(Asn391=) NC_000002.12:165758764:A:G p.(Asn391=) NC_000002.12:165758764:A:G Identity +NM_000833.5:c.1386T>C NP_000824.1:p.Asp462= NC_000016.10:9841046:A:G p.(Asp462=) NC_000016.10:9841046:A:G p.(Asp462=) NC_000016.10:9841046:A:G Identity +NM_014141.6:c.2058C>G NP_054860.1:p.Val686= NC_000007.14:147639265:C:G p.(Val686=) NC_000007.14:147639265:C:G p.(Val686=) NC_000007.14:147639265:C:G Identity +NM_000028.3:c.570A>G NP_000019.2:p.Arg190= NC_000001.11:99864494:A:G p.(Arg190=) NC_000001.11:99864494:A:G p.(Arg190=) NC_000001.11:99864494:A:G Identity +NM_001304482.2:c.2982C>G NP_001291411.1:p.Leu994= NC_000003.12:47411157:C:G p.(Leu994=) NC_000003.12:47411157:C:G p.(Leu994=) NC_000003.12:47411157:C:G Identity +NM_001244710.2:c.1944C>T NP_001231639.1:p.Asn648= NC_000002.12:69327024:G:A p.(Asn648=) NC_000002.12:69327024:G:A p.(Asn648=) NC_000002.12:69327024:G:A Identity +NM_001042410.2:c.1137A>G NP_001035869.1:p.Glu379= NC_000002.12:219234220:A:G p.(Glu379=) NC_000002.12:219234220:A:G p.(Glu379=) NC_000002.12:219234220:A:G Identity +NM_001271995.2:c.789G>A NP_001258924.1:p.Lys263= NC_000019.10:4168427:G:A p.(Lys263=) NC_000019.10:4168427:G:A p.(Lys263=) NC_000019.10:4168427:G:A Identity +NM_001128855.3:c.291C>T NP_001122327.1:p.Leu97= NC_000019.10:17338244:C:T p.(Leu97=) NC_000019.10:17338244:C:T p.(Leu97=) NC_000019.10:17338244:C:T Identity +NM_001320665.2:c.465A>G NP_001307594.1:p.Gln155= NC_000015.10:72724532:A:G p.(Gln155=) NC_000015.10:72724532:A:G p.(Gln155=) NC_000015.10:72724532:A:G Identity +NM_000195.5:c.357C>T NP_000186.2:p.His119= NC_000010.11:98435312:G:A p.(His119=) NC_000010.11:98435312:G:A p.(His119=) NC_000010.11:98435312:G:A Identity +NM_000744.7:c.747C>T NP_000735.1:p.Asn249= NC_000020.11:63350663:G:A p.(Asn249=) NC_000020.11:63350663:G:A p.(Asn249=) NC_000020.11:63350663:G:A Identity +NM_001145853.1:c.1344C>T NP_001139325.1:p.Ser448= NC_000004.12:6301138:C:T p.(Ser448=) NC_000004.12:6301138:C:T p.(Ser448=) NC_000004.12:6301138:C:T Identity +NM_000293.3:c.1326T>C NP_000284.1:p.Leu442= NC_000016.10:47596493:T:C p.(Leu442=) NC_000016.10:47596493:T:C p.(Leu442=) NC_000016.10:47596493:T:C Identity +NM_001277269.2:c.7920C>T NP_001264198.1:p.Tyr2640= NC_000011.10:17638538:C:T p.(Tyr2640=) NC_000011.10:17638538:C:T p.(Tyr2640=) NC_000011.10:17638538:C:T Identity +NM_000238.4:c.159C>G NP_000229.1:p.Gly53= NC_000007.14:150974858:G:C p.(Gly53=) NC_000007.14:150974858:G:C p.(Gly53=) NC_000007.14:150974858:G:C Identity +NM_001252678.2:c.4C>T NP_001239607.1:p.Leu2= NC_000015.10:72724587:C:T p.(Leu2=) NC_000015.10:72724587:C:T p.(Leu2=) NC_000015.10:72724587:C:T Identity +NM_001024218.2:c.666T>C NP_001019389.1:p.Ser222= NC_000014.9:66922874:T:C p.(Ser222=) NC_000014.9:66922874:T:C p.(Ser222=) NC_000014.9:66922874:T:C Identity +NM_001849.4:c.678C>T NP_001840.3:p.Ile226= NC_000021.9:46112540:C:T p.(Ile226=) NC_000021.9:46112540:C:T p.(Ile226=) NC_000021.9:46112540:C:T Identity +NM_020338.4:c.312C>T NP_065071.1:p.Gly104= NC_000010.11:79277211:C:T p.(Gly104=) NC_000010.11:79277211:C:T p.(Gly104=) NC_000010.11:79277211:C:T Identity +NM_001142763.2:c.5082T>C NP_001136235.1:p.Pro1694= NC_000010.11:53822664:A:G p.(Pro1694=) NC_000010.11:53822664:A:G p.(Pro1694=) NC_000010.11:53822664:A:G Identity +NM_015909.4:c.1692A>C NP_056993.2:p.Ser564= NC_000002.12:15473254:T:G p.(Ser564=) NC_000002.12:15473254:T:G p.(Ser564=) NC_000002.12:15473254:T:G Identity +NM_000718.4:c.1962C>T NP_000709.1:p.Leu654= NC_000009.12:137986841:C:T p.(Leu654=) NC_000009.12:137986841:C:T p.(Leu654=) NC_000009.12:137986841:C:T Identity +NM_001315529.2:c.618A>G NP_001302458.1:p.Glu206= NC_000021.9:46346993:A:G p.(Glu206=) NC_000021.9:46346993:A:G p.(Glu206=) NC_000021.9:46346993:A:G Identity +NM_000212.3:c.267A>T NP_000203.2:p.Val89= NC_000017.11:47283454:A:T p.(Val89=) NC_000017.11:47283454:A:T p.(Val89=) NC_000017.11:47283454:A:T Identity +NM_001199917.2:c.792G>A NP_001186846.1:p.Leu264= NC_000006.12:83181814:C:T p.(Leu264=) NC_000006.12:83181814:C:T p.(Leu264=) NC_000006.12:83181814:C:T Identity +NM_004204.5:c.1062G>A NP_004195.2:p.Leu354= NC_000016.10:578497:G:A p.(Leu354=) NC_000016.10:578497:G:A p.(Leu354=) NC_000016.10:578497:G:A Identity +NM_001194998.2:c.4203C>T NP_001181927.1:p.Thr1401= NC_000015.10:48739178:G:A p.(Thr1401=) NC_000015.10:48739178:G:A p.(Thr1401=) NC_000015.10:48739178:G:A Identity +NM_001166107.1:c.51G>A NP_001159579.1:p.Ala17= NC_000001.11:119768793:C:T p.(Ala17=) NC_000001.11:119768793:C:T p.(Ala17=) NC_000001.11:119768793:C:T Identity +NM_000734.4:c.24C>T NP_000725.1:p.Thr8= NC_000001.11:167518441:G:A p.(Thr8=) NC_000001.11:167518441:G:A p.(Thr8=) NC_000001.11:167518441:G:A Identity +NM_001321100.2:c.970C>T NP_001308029.1:p.Leu324= NC_000002.12:196847015:G:A p.(Leu324=) NC_000002.12:196847015:G:A p.(Leu324=) NC_000002.12:196847015:G:A Identity +NM_024795.4:c.228G>A NP_079071.2:p.Ala76= NC_000002.12:227370935:C:T p.(Ala76=) NC_000002.12:227370935:C:T p.(Ala76=) NC_000002.12:227370935:C:T Identity +NM_022098.4:c.615C>T NP_071381.1:p.Asp205= NC_000022.11:40886337:C:T p.(Asp205=) NC_000022.11:40886337:C:T p.(Asp205=) NC_000022.11:40886337:C:T Identity +NM_000465.4:c.2238C>T NP_000456.2:p.His746= NC_000002.12:214728771:G:A p.(His746=) NC_000002.12:214728771:G:A p.(His746=) NC_000002.12:214728771:G:A Identity +NM_000410.4:c.1035T>A NP_000401.1:p.Ala345= NC_000006.12:26094213:T:A p.(Ala345=) NC_000006.12:26094213:T:A p.(Ala345=) NC_000006.12:26094213:T:A Identity +NM_001165962.2:c.156C>A NP_001159434.1:p.Ser52= NC_000017.11:13017791:G:T p.(Ser52=) NC_000017.11:13017791:G:T p.(Ser52=) NC_000017.11:13017791:G:T Identity +NM_001286074.2:c.4416A>G NP_001273003.2:p.Gln1472= NC_000023.11:71421339:A:G p.(Gln1472=) NC_000023.11:71421339:A:G p.(Gln1472=) NC_000023.11:71421339:A:G Identity +NM_001039958.2:c.117G>C NP_001035047.1:p.Ser39= NC_000015.10:89776473:G:C p.(Ser39=) NC_000015.10:89776473:G:C p.(Ser39=) NC_000015.10:89776473:G:C Identity +NM_015657.4:c.3150T>C NP_056472.2:p.Phe1050= NC_000002.12:214986600:A:G p.(Phe1050=) NC_000002.12:214986600:A:G p.(Phe1050=) NC_000002.12:214986600:A:G Identity +NM_000053.4:c.2601A>G NP_000044.2:p.Lys867= NC_000013.11:51950135:T:C p.(Lys867=) NC_000013.11:51950135:T:C p.(Lys867=) NC_000013.11:51950135:T:C Identity +NM_052859.4:c.1515G>A NP_443091.1:p.Gly505= NC_000003.12:53092013:C:T p.(Gly505=) NC_000003.12:53092013:C:T p.(Gly505=) NC_000003.12:53092013:C:T Identity +NM_001349636.2:c.1308A>G NP_001336565.1:p.Glu436= NC_000008.11:85129339:A:G p.(Glu436=) NC_000008.11:85129339:A:G p.(Glu436=) NC_000008.11:85129339:A:G Identity +NM_025074.7:c.6735G>A NP_079350.5:p.Leu2245= NC_000004.12:78452325:G:A p.(Leu2245=) NC_000004.12:78452325:G:A p.(Leu2245=) NC_000004.12:78452325:G:A Identity +NM_000212.3:c.102A>T NP_000203.2:p.Arg34= NC_000017.11:47274440:A:T p.(Arg34=) NC_000017.11:47274440:A:T p.(Arg34=) NC_000017.11:47274440:A:T Identity +NM_001271938.2:c.7560C>T NP_001258867.1:p.Gly2520= NC_000019.10:42375796:C:T p.(Gly2520=) NC_000019.10:42375796:C:T p.(Gly2520=) NC_000019.10:42375796:C:T Identity +NM_000033.4:c.579T>G NP_000024.2:p.Pro193= NC_000023.11:153725844:T:G p.(Pro193=) NC_000023.11:153725844:T:G p.(Pro193=) NC_000023.11:153725844:T:G Identity +NM_004104.5:c.1155C>T NP_004095.4:p.Gly385= NC_000017.11:82091558:G:A p.(Gly385=) NC_000017.11:82091558:G:A p.(Gly385=) NC_000017.11:82091558:G:A Identity +NM_004820.5:c.1437C>T NP_004811.1:p.Pro479= NC_000008.11:64596725:G:A p.(Pro479=) NC_000008.11:64596725:G:A p.(Pro479=) NC_000008.11:64596725:G:A Identity +NM_000426.4:c.810C>T NP_000417.3:p.Val270= NC_000006.12:129144070:C:T p.(Val270=) NC_000006.12:129144070:C:T p.(Val270=) NC_000006.12:129144070:C:T Identity +NM_016239.4:c.1737G>C NP_057323.3:p.Thr579= NC_000017.11:18120536:G:C p.(Thr579=) NC_000017.11:18120536:G:C p.(Thr579=) NC_000017.11:18120536:G:C Identity +NM_000434.4:c.420G>T NP_000425.1:p.Gly140= NC_000006.12:31861382:C:A p.(Gly140=) NC_000006.12:31861382:C:A p.(Gly140=) NC_000006.12:31861382:C:A Identity +NM_005120.3:c.3951G>A NP_005111.2:p.Ala1317= NC_000023.11:71130117:G:A p.(Ala1317=) NC_000023.11:71130117:G:A p.(Ala1317=) NC_000023.11:71130117:G:A Identity +NM_001042472.3:c.171A>G NP_001035937.1:p.Gly57= NC_000020.11:25390532:T:C p.(Gly57=) NC_000020.11:25390532:T:C p.(Gly57=) NC_000020.11:25390532:T:C Identity +NM_000381.4:c.1758G>A NP_000372.1:p.Val586= NC_000023.11:10449613:C:T p.(Val586=) NC_000023.11:10449613:C:T p.(Val586=) NC_000023.11:10449613:C:T Identity +NM_000547.6:c.2514C>T NP_000538.3:p.Cys838= NC_000002.12:1504074:C:T p.(Cys838=) NC_000002.12:1504074:C:T p.(Cys838=) NC_000002.12:1504074:C:T Identity +NM_000050.4:c.60C>T NP_000041.2:p.Ile20= NC_000009.12:130452287:C:T p.(Ile20=) NC_000009.12:130452287:C:T p.(Ile20=) NC_000009.12:130452287:C:T Identity +NM_000202.8:c.1335T>C NP_000193.1:p.Arg445= NC_000023.11:149483063:A:G p.(Arg445=) NC_000023.11:149483063:A:G p.(Arg445=) NC_000023.11:149483063:A:G Identity +NM_001160227.2:c.6729T>C NP_001153699.1:p.Ile2243= NC_000015.10:44564629:A:G p.(Ile2243=) NC_000015.10:44564629:A:G p.(Ile2243=) NC_000015.10:44564629:A:G Identity +NM_001018115.3:c.654C>A NP_001018125.1:p.Ile218= NC_000003.12:10039803:C:A p.(Ile218=) NC_000003.12:10039803:C:A p.(Ile218=) NC_000003.12:10039803:C:A Identity +NM_001413017.1:c.906T>G NP_001399946.1:p.Pro302= NC_000008.11:144516212:A:C p.(Pro302=) NC_000008.11:144516212:A:C p.(Pro302=) NC_000008.11:144516212:A:C Identity +NM_001315529.2:c.3603G>A NP_001302458.1:p.Glu1201= NC_000021.9:46390785:G:A p.(Glu1201=) NC_000021.9:46390785:G:A p.(Glu1201=) NC_000021.9:46390785:G:A Identity +NM_000443.4:c.2382A>G NP_000434.1:p.Ala794= NC_000007.14:87420009:T:C p.(Ala794=) NC_000007.14:87420009:T:C p.(Ala794=) NC_000007.14:87420009:T:C Identity +NM_138691.3:c.108G>A NP_619636.2:p.Glu36= NC_000009.12:72694585:G:A p.(Glu36=) NC_000009.12:72694585:G:A p.(Glu36=) NC_000009.12:72694585:G:A Identity +NM_001305275.2:c.5487C>T NP_001292204.1:p.Pro1829= NC_000001.11:1051556:C:T p.(Pro1829=) NC_000001.11:1051556:C:T p.(Pro1829=) NC_000001.11:1051556:C:T Identity +NM_001306129.2:c.6858A>G NP_001293058.2:p.Glu2286= NC_000002.12:215367929:T:C p.(Glu2286=) NC_000002.12:215367929:T:C p.(Glu2286=) NC_000002.12:215367929:T:C Identity +NM_006231.4:c.6525C>T NP_006222.2:p.Phe2175= NC_000012.12:132626122:G:A p.(Phe2175=) NC_000012.12:132626122:G:A p.(Phe2175=) NC_000012.12:132626122:G:A Identity +NM_014845.6:c.1215G>A NP_055660.1:p.Leu405= NC_000006.12:109760326:G:A p.(Leu405=) NC_000006.12:109760326:G:A p.(Leu405=) NC_000006.12:109760326:G:A Identity +NM_000426.4:c.375A>G NP_000417.3:p.Thr125= NC_000006.12:129059874:A:G p.(Thr125=) NC_000006.12:129059874:A:G p.(Thr125=) NC_000006.12:129059874:A:G Identity +NM_030665.4:c.3731GCA[9] NP_109590.3:p.Ser1249_Asn1250insSerSerSer NC_000017.11:17796678:GCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCA p.(Ser1247_Ser1249dup) NC_000017.11:17796678:G:GCAGCAGCAGCAGCAGCAGCAGCAGCA ERR:Parse ERR:Parse Analogous +NM_000537.4:c.241_243dup NP_000528.1:p.Tyr81_Met82insTyr NC_000001.11:204162018:GTAGT:GTAGTAGT p.(Tyr81dup) NC_000001.11:204162018:GTAGT:GTAGTAGT p.(Tyr81dup) ERR:SPDI Analogous +NM_018026.4:c.630C>T NP_060496.2:p.Thr210= NC_000011.10:66211228:C:T p.(Thr210=) NC_000011.10:66211228:C:T p.(Thr210=) NC_000011.10:66211228:C:T Identity +NM_001270523.2:c.246G>A NP_001257452.1:p.Val82= NC_000014.9:56804190:C:T p.(Val82=) NC_000014.9:56804190:C:T p.(Val82=) NC_000014.9:56804190:C:T Identity +NM_138694.4:c.982C>A NP_619639.3:p.Arg328= NC_000006.12:52062654:G:T p.(Arg328=) NC_000006.12:52062654:G:T p.(Arg328=) NC_000006.12:52062654:G:T Identity +NM_000497.4:c.573C>T NP_000488.3:p.Ser191= NC_000008.11:142877044:G:A p.(Ser191=) NC_000008.11:142877044:G:A p.(Ser191=) NC_000008.11:142877044:G:A Identity +NM_001350748.2:c.1885T>C NP_001337677.1:p.Leu629= NC_000013.11:101144850:A:G p.(Leu629=) NC_000013.11:101144850:A:G p.(Leu629=) NC_000013.11:101144850:A:G Identity +NM_000941.2:c.1187_1195CCTCGGAGC[1] NP_000932.3:p.Pro399_Glu401del NC_000007.14:75984896:CCTCGGAGCCCTCGGAGC:CCTCGGAGC ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_013339.4:c.1000C>T NP_037471.2:p.Leu334= NC_000001.11:63419381:C:T p.(Leu334=) NC_000001.11:63419381:C:T p.(Leu334=) NC_000001.11:63419381:C:T Identity +NM_000271.5:c.3339C>T NP_000262.2:p.Thr1113= NC_000018.10:23535606:G:A p.(Thr1113=) NC_000018.10:23535606:G:A p.(Thr1113=) NC_000018.10:23535606:G:A Identity +NM_001204831.3:c.1101C>T NP_001191760.1:p.Ala367= NC_000003.12:43576752:G:A p.(Ala367=) NC_000003.12:43576752:G:A p.(Ala367=) NC_000003.12:43576752:G:A Identity +NM_004268.5:c.1545T>A NP_004259.3:p.Ser515= NC_000011.10:93807595:T:A p.(Ser515=) NC_000011.10:93807595:T:A p.(Ser515=) NC_000011.10:93807595:T:A Identity +NM_015657.4:c.2772G>T NP_056472.2:p.Pro924= NC_000002.12:214989431:C:A p.(Pro924=) NC_000002.12:214989431:C:A p.(Pro924=) NC_000002.12:214989431:C:A Identity +NM_000081.4:c.4095T>C NP_000072.2:p.Phe1365= NC_000001.11:235793523:A:G p.(Phe1365=) NC_000001.11:235793523:A:G p.(Phe1365=) NC_000001.11:235793523:A:G Identity +NM_001288721.2:c.279G>A NP_001275650.1:p.Leu93= NC_000011.10:62617304:C:T p.(Leu93=) NC_000011.10:62617304:C:T p.(Leu93=) NC_000011.10:62617304:C:T Identity +NM_001308006.2:c.1086A>G NP_001294935.1:p.Gln362= NC_000018.10:49583705:A:G p.(Gln362=) NC_000018.10:49583705:A:G p.(Gln362=) NC_000018.10:49583705:A:G Identity +NM_001349896.1:c.1113A>G NP_001336825.1:p.Glu371= NC_000022.11:26464516:T:C p.(Glu371=) NC_000022.11:26464516:T:C p.(Glu371=) NC_000022.11:26464516:T:C Identity +NM_001127207.2:c.585A>C NP_001120679.1:p.Ala195= NC_000002.12:216415288:A:C p.(Ala195=) NC_000002.12:216415288:A:C p.(Ala195=) NC_000002.12:216415288:A:C Identity +NM_001145795.2:c.2049G>A NP_001139267.1:p.Ala683= NC_000016.10:28873597:G:A p.(Ala683=) NC_000016.10:28873597:G:A p.(Ala683=) NC_000016.10:28873597:G:A Identity +NM_003482.4:c.11787_11813dup NP_003473.3:p.Gln3947_Leu3948insGlnLeuGlnGlnGlnGlnGlnGlnGln NC_000012.12:49032891:TGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTG:TGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTG p.(Gln3939_Gln3947dup) NC_000012.12:49032891:TGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTG:TGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTG p.(Gln3939_Gln3947dup) ERR:SPDI Analogous +NM_001113378.2:c.1860T>C NP_001106849.1:p.Ala620= NC_000015.10:89290250:T:C p.(Ala620=) NC_000015.10:89290250:T:C p.(Ala620=) NC_000015.10:89290250:T:C Identity +NM_001354705.2:c.2622C>G NP_001341634.1:p.Pro874= NC_000012.12:57581547:C:G p.(Pro874=) NC_000012.12:57581547:C:G p.(Pro874=) NC_000012.12:57581547:C:G Identity +NM_015909.4:c.1158C>G NP_056993.2:p.Ser386= NC_000002.12:15475869:G:C p.(Ser386=) NC_000002.12:15475869:G:C p.(Ser386=) NC_000002.12:15475869:G:C Identity +NM_001080414.4:c.5601T>C NP_001073883.2:p.Ala1867= NC_000014.9:91273110:A:G p.(Ala1867=) NC_000014.9:91273110:A:G p.(Ala1867=) NC_000014.9:91273110:A:G Identity +NM_001127671.2:c.147T>A NP_001121143.1:p.Ala49= NC_000005.10:38528835:A:T p.(Ala49=) NC_000005.10:38528835:A:T p.(Ala49=) NC_000005.10:38528835:A:T Identity +NM_001127178.3:c.1663C>T NP_001120650.1:p.Leu555= NC_000004.12:523506:C:T p.(Leu555=) NC_000004.12:523506:C:T p.(Leu555=) NC_000004.12:523506:C:T Identity +NM_005908.4:c.1545A>G NP_005899.3:p.Ala515= NC_000004.12:102657840:T:C p.(Ala515=) NC_000004.12:102657840:T:C p.(Ala515=) NC_000004.12:102657840:T:C Identity +NM_000426.4:c.8853A>G NP_000417.3:p.Lys2951= NC_000006.12:129507637:A:G p.(Lys2951=) NC_000006.12:129507637:A:G p.(Lys2951=) NC_000006.12:129507637:A:G Identity +NM_004204.5:c.1176C>T NP_004195.2:p.Ile392= NC_000016.10:578890:C:T p.(Ile392=) NC_000016.10:578890:C:T p.(Ile392=) NC_000016.10:578890:C:T Identity +NM_000183.3:c.979C>T NP_000174.1:p.Leu327= NC_000002.12:26282889:C:T p.(Leu327=) NC_000002.12:26282889:C:T p.(Leu327=) NC_000002.12:26282889:C:T Identity +NM_138459.5:c.39C>T NP_612468.1:p.His13= NC_000006.12:117675708:C:T p.(His13=) NC_000006.12:117675708:C:T p.(His13=) NC_000006.12:117675708:C:T Identity +NM_005709.4:c.1608G>A NP_005700.2:p.Val536= NC_000011.10:17496795:C:T p.(Val536=) NC_000011.10:17496795:C:T p.(Val536=) NC_000011.10:17496795:C:T Identity +NM_024306.5:c.447G>T NP_077282.3:p.Val149= NC_000016.10:74727302:C:A p.(Val149=) NC_000016.10:74727302:C:A p.(Val149=) NC_000016.10:74727302:C:A Identity +NM_032888.4:c.1209T>A NP_116277.2:p.Thr403= NC_000009.12:114168763:T:A p.(Thr403=) NC_000009.12:114168763:T:A p.(Thr403=) NC_000009.12:114168763:T:A Identity +NM_000383.4:c.603A>G NP_000374.1:p.Gly201= NC_000021.9:44288408:A:G p.(Gly201=) NC_000021.9:44288408:A:G p.(Gly201=) NC_000021.9:44288408:A:G Identity +NM_020338.4:c.270G>A NP_065071.1:p.Pro90= NC_000010.11:79216263:G:A p.(Pro90=) NC_000010.11:79216263:G:A p.(Pro90=) NC_000010.11:79216263:G:A Identity +NM_021619.3:c.75C>A NP_067632.2:p.Ala25= NC_000009.12:130664727:C:A p.(Ala25=) NC_000009.12:130664727:C:A p.(Ala25=) NC_000009.12:130664727:C:A Identity +NM_032888.4:c.4389G>C NP_116277.2:p.Gly1463= NC_000009.12:114290829:G:C p.(Gly1463=) NC_000009.12:114290829:G:C p.(Gly1463=) NC_000009.12:114290829:G:C Identity +NM_000512.5:c.15C>A NP_000503.1:p.Val5= NC_000016.10:88856862:G:T p.(Val5=) NC_000016.10:88856862:G:T p.(Val5=) NC_000016.10:88856862:G:T Identity +NM_001122633.3:c.3765G>A NP_001116105.2:p.Glu1255= NC_000002.12:210660492:G:A p.(Glu1255=) NC_000002.12:210660492:G:A p.(Glu1255=) NC_000002.12:210660492:G:A Identity +NM_001105206.3:c.5443_5444dup NP_001098676.2:p.Val1815_Ser1816insTer NC_000006.12:112109464:AC:ACAC p.(Ser1816Ter) NC_000006.12:112109464:AC:ACAC p.(Ser1816Ter) ERR:SPDI Analogous +NM_001411067.1:c.27T>A NP_001397996.1:p.Pro9= NC_000017.11:8248009:A:T p.(Pro9=) NC_000017.11:8248009:A:T p.(Pro9=) NC_000017.11:8248009:A:T Identity +NM_002471.4:c.5682C>T NP_002462.2:p.Asn1894= NC_000014.9:23382541:G:A p.(Asn1894=) NC_000014.9:23382541:G:A p.(Asn1894=) NC_000014.9:23382541:G:A Identity +NM_001199642.1:c.1839C>T NP_001186571.1:p.Thr613= NC_000003.12:123300130:G:A p.(Thr613=) NC_000003.12:123300130:G:A p.(Thr613=) NC_000003.12:123300130:G:A Identity +NM_001278055.2:c.4041T>C NP_001264984.1:p.Ser1347= NC_000013.11:23339393:A:G p.(Ser1347=) NC_000013.11:23339393:A:G p.(Ser1347=) NC_000013.11:23339393:A:G Identity +NM_001365940.2:c.333C>T NP_001352869.1:p.Ile111= NC_000003.12:139518441:G:A p.(Ile111=) NC_000003.12:139518441:G:A p.(Ile111=) NC_000003.12:139518441:G:A Identity +NM_032119.4:c.3435A>C NP_115495.3:p.Gly1145= NC_000005.10:90652363:A:C p.(Gly1145=) NC_000005.10:90652363:A:C p.(Gly1145=) NC_000005.10:90652363:A:C Identity +NM_000094.4:c.6837A>T NP_000085.1:p.Ser2279= NC_000003.12:48572733:T:A p.(Ser2279=) NC_000003.12:48572733:T:A p.(Ser2279=) NC_000003.12:48572733:T:A Identity +NM_001369906.1:c.627C>T NP_001356835.1:p.Ala209= NC_000022.11:23573283:G:A p.(Ala209=) NC_000022.11:23573283:G:A p.(Ala209=) NC_000022.11:23573283:G:A Identity +NM_032228.6:c.483G>A NP_115604.1:p.Lys161= NC_000011.10:13708016:G:A p.(Lys161=) NC_000011.10:13708016:G:A p.(Lys161=) NC_000011.10:13708016:G:A Identity +NM_001406506.1:c.2070T>A NP_001393435.1:p.Arg690= NC_000018.10:31068902:A:T p.(Arg690=) NC_000018.10:31068902:A:T p.(Arg690=) NC_000018.10:31068902:A:T Identity +LRG_265t2:c.768T>G LRG_265p2:p.Ala256= NC_000019.10:40397583:A:C ERR:Data provider error: ValueError: Transcript LRG_265t2 not found ERR:Data provider error: ValueError: Transcript LRG_265t2 not found ERR:AlignmentMapper(tx_ac=LRG_265t2, alt_ac=LRG_265t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_265t2, alt_ac=LRG_265t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_265t2 not found +NM_001320923.2:c.2901T>C NP_001307852.1:p.Tyr967= NC_000001.11:64838530:A:G p.(Tyr967=) NC_000001.11:64838530:A:G p.(Tyr967=) NC_000001.11:64838530:A:G Identity +NM_000540.3:c.10170C>G NP_000531.2:p.Gly3390= NC_000019.10:38519364:C:G p.(Gly3390=) NC_000019.10:38519364:C:G p.(Gly3390=) NC_000019.10:38519364:C:G Identity +NM_000540.3:c.13317C>G NP_000531.2:p.Ala4439= NC_000019.10:38565650:C:G p.(Ala4439=) NC_000019.10:38565650:C:G p.(Ala4439=) NC_000019.10:38565650:C:G Identity +NM_001410714.1:c.66T>C NP_001397643.1:p.Cys22= NC_000004.12:25160303:A:G p.(Cys22=) NC_000004.12:25160303:A:G p.(Cys22=) NC_000004.12:25160303:A:G Identity +NM_000339.3:c.2130G>A NP_000330.3:p.Ser710= NC_000016.10:56887044:G:A p.(Ser710=) NC_000016.10:56887044:G:A p.(Ser710=) NC_000016.10:56887044:G:A Identity +NM_001172696.2:c.990C>T NP_001166167.1:p.Asp330= NC_000012.12:57796531:C:T p.(Asp330=) NC_000012.12:57796531:C:T p.(Asp330=) NC_000012.12:57796531:C:T Identity +NM_006623.4:c.1314C>T NP_006614.2:p.Val438= NC_000001.11:119742910:C:T p.(Val438=) NC_000001.11:119742910:C:T p.(Val438=) NC_000001.11:119742910:C:T Identity +NM_001258040.3:c.108G>A NP_001244969.1:p.Ala36= NC_000005.10:140690926:C:T p.(Ala36=) NC_000005.10:140690926:C:T p.(Ala36=) NC_000005.10:140690926:C:T Identity +NM_000335.5:c.5238G>A NP_000326.2:p.Val1746= NC_000003.12:38551130:C:T p.(Val1746=) NC_000003.12:38551130:C:T p.(Val1746=) NC_000003.12:38551130:C:T Identity +NM_000540.3:c.10881G>A NP_000531.2:p.Gln3627= NC_000019.10:38528361:G:A p.(Gln3627=) NC_000019.10:38528361:G:A p.(Gln3627=) NC_000019.10:38528361:G:A Identity +NM_001080124.2:c.474C>T NP_001073593.1:p.Asp158= NC_000002.12:201272699:C:T p.(Asp158=) NC_000002.12:201272699:C:T p.(Asp158=) NC_000002.12:201272699:C:T Identity +NM_001166418.2:c.795C>A NP_001159890.1:p.Arg265= NC_000023.11:72351775:G:T p.(Arg265=) NC_000023.11:72351775:G:T p.(Arg265=) NC_000023.11:72351775:G:T Identity +NM_003482.4:c.12891T>G NP_003473.3:p.Ser4297= NC_000012.12:49031813:A:C p.(Ser4297=) NC_000012.12:49031813:A:C p.(Ser4297=) NC_000012.12:49031813:A:C Identity +NM_001113755.3:c.571C>T NP_001107227.1:p.Leu191= NC_000022.11:50527662:G:A p.(Leu191=) NC_000022.11:50527662:G:A p.(Leu191=) NC_000022.11:50527662:G:A Identity +NM_001411068.1:c.898C>T NP_001397997.1:p.Leu300= NC_000015.10:68208273:G:A p.(Leu300=) NC_000015.10:68208273:G:A p.(Leu300=) NC_000015.10:68208273:G:A Identity +NM_000017.4:c.840G>T NP_000008.1:p.Leu280= NC_000012.12:120738576:G:T p.(Leu280=) NC_000012.12:120738576:G:T p.(Leu280=) NC_000012.12:120738576:G:T Identity +NM_000540.3:c.13138C>T NP_000531.2:p.Leu4380= NC_000019.10:38565471:C:T p.(Leu4380=) NC_000019.10:38565471:C:T p.(Leu4380=) NC_000019.10:38565471:C:T Identity +NM_001004426.3:c.987C>A NP_001004426.1:p.Arg329= NC_000022.11:38132920:G:T p.(Arg329=) NC_000022.11:38132920:G:T p.(Arg329=) NC_000022.11:38132920:G:T Identity +NM_001145844.1:c.255T>C NP_001139316.1:p.Ser85= NC_000003.12:78938727:A:G ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_003737.4:c.5859C>T NP_003728.1:p.Val1953= NC_000011.10:6627179:G:A p.(Val1953=) NC_000011.10:6627179:G:A p.(Val1953=) NC_000011.10:6627179:G:A Identity +NM_001321099.2:c.936A>C NP_001308028.1:p.Thr312= NC_000002.12:196873726:T:G p.(Thr312=) NC_000002.12:196873726:T:G p.(Thr312=) NC_000002.12:196873726:T:G Identity +NM_001312689.2:c.105T>C NP_001299618.1:p.Ile35= NC_000010.11:27971220:A:G p.(Ile35=) NC_000010.11:27971220:A:G p.(Ile35=) NC_000010.11:27971220:A:G Identity +NM_000320.3:c.720C>A NP_000311.2:p.Thr240= NC_000004.12:17487145:G:T p.(Thr240=) NC_000004.12:17487145:G:T p.(Thr240=) NC_000004.12:17487145:G:T Identity +NM_001148.6:c.9009G>A NP_001139.3:p.Leu3003= NC_000004.12:113357626:G:A p.(Leu3003=) NC_000004.12:113357626:G:A p.(Leu3003=) NC_000004.12:113357626:G:A Identity +NM_001271684.2:c.168A>G NP_001258613.1:p.Leu56= NC_000001.11:99993721:A:G p.(Leu56=) NC_000001.11:99993721:A:G p.(Leu56=) NC_000001.11:99993721:A:G Identity +NM_001306079.2:c.6159G>A NP_001293008.1:p.Arg2053= NC_000002.12:27242744:G:A p.(Arg2053=) NC_000002.12:27242744:G:A p.(Arg2053=) NC_000002.12:27242744:G:A Identity +NM_005911.6:c.960T>C NP_005902.1:p.Tyr320= NC_000002.12:85542908:T:C p.(Tyr320=) NC_000002.12:85542908:T:C p.(Tyr320=) NC_000002.12:85542908:T:C Identity +NM_001164507.2:c.25464G>A NP_001157979.2:p.Lys8488= NC_000002.12:151485873:C:T p.(Lys8488=) NC_000002.12:151485873:C:T p.(Lys8488=) NC_000002.12:151485873:C:T Identity +NM_207361.6:c.1605C>T NP_997244.4:p.Arg535= NC_000013.11:38688948:C:T p.(Arg535=) NC_000013.11:38688948:C:T p.(Arg535=) NC_000013.11:38688948:C:T Identity +NM_001410705.1:c.5253G>A NP_001397634.1:p.Gln1751= NC_000023.11:153951982:C:T p.(Gln1751=) NC_000023.11:153951982:C:T p.(Gln1751=) NC_000023.11:153951982:C:T Identity +NM_001032381.2:c.393_413dup NP_001027553.1:p.Arg140_Asp141insGlyHisAspLysSerAspArg NC_000023.11:48902316:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC p.(Gly134_Arg140dup) NC_000023.11:48902316:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC:GGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTC p.(Gly134_Arg140dup) ERR:SPDI Analogous +NM_001035.3:c.57A>G NP_001026.2:p.Glu19= NC_000001.11:237270504:A:G p.(Glu19=) NC_000001.11:237270504:A:G p.(Glu19=) NC_000001.11:237270504:A:G Identity +NM_015657.4:c.5493A>G NP_056472.2:p.Gln1831= NC_000002.12:214954053:T:C p.(Gln1831=) NC_000002.12:214954053:T:C p.(Gln1831=) NC_000002.12:214954053:T:C Identity +NM_003079.5:c.657C>G NP_003070.3:p.Val219= NC_000017.11:40632251:G:C p.(Val219=) NC_000017.11:40632251:G:C p.(Val219=) NC_000017.11:40632251:G:C Identity +NM_000254.3:c.3132T>C NP_000245.2:p.Ile1044= NC_000001.11:236891256:T:C p.(Ile1044=) NC_000001.11:236891256:T:C p.(Ile1044=) NC_000001.11:236891256:T:C Identity +NM_001126335.2:c.1446G>C NP_001119807.1:p.Pro482= NC_000019.10:32830637:C:G p.(Pro482=) NC_000019.10:32830637:C:G p.(Pro482=) NC_000019.10:32830637:C:G Identity +NM_001324112.2:c.228A>G NP_001311041.1:p.Gln76= NC_000008.11:64624433:T:C p.(Gln76=) NC_000008.11:64624433:T:C p.(Gln76=) NC_000008.11:64624433:T:C Identity +NM_003482.4:c.6663C>G NP_003473.3:p.Gly2221= NC_000012.12:49041106:G:C p.(Gly2221=) NC_000012.12:49041106:G:C p.(Gly2221=) NC_000012.12:49041106:G:C Identity +NM_001081640.2:c.5430C>T NP_001075109.1:p.Pro1810= NC_000008.11:47864696:G:A p.(Pro1810=) NC_000008.11:47864696:G:A p.(Pro1810=) NC_000008.11:47864696:G:A Identity +NM_000206.3:c.765T>C NP_000197.1:p.Pro255= NC_000023.11:71108687:A:G p.(Pro255=) NC_000023.11:71108687:A:G p.(Pro255=) NC_000023.11:71108687:A:G Identity +NM_000337.6:c.571C>T NP_000328.2:p.Leu191= NC_000005.10:156647531:C:T p.(Leu191=) NC_000005.10:156647531:C:T p.(Leu191=) NC_000005.10:156647531:C:T Identity +NM_001136024.4:c.3462T>G NP_001129496.1:p.Thr1154= NC_000023.11:17728098:T:G p.(Thr1154=) NC_000023.11:17728098:T:G p.(Thr1154=) NC_000023.11:17728098:T:G Identity +NM_001905.4:c.411C>T NP_001896.2:p.Gly137= NC_000001.11:40987444:C:T p.(Gly137=) NC_000001.11:40987444:C:T p.(Gly137=) NC_000001.11:40987444:C:T Identity +NM_001165255.2:c.327G>C NP_001158727.1:p.Gly109= NC_000007.14:157005762:C:G p.(Gly109=) NC_000007.14:157005762:C:G p.(Gly109=) NC_000007.14:157005762:C:G Identity +NM_001348250.2:c.732C>T NP_001335179.1:p.Ala244= NC_000003.12:11025465:C:T p.(Ala244=) NC_000003.12:11025465:C:T p.(Ala244=) NC_000003.12:11025465:C:T Identity +NM_138413.4:c.606G>T NP_612422.2:p.Val202= NC_000010.11:97600068:G:T p.(Val202=) NC_000010.11:97600068:G:T p.(Val202=) NC_000010.11:97600068:G:T Identity +NM_001194998.2:c.1218A>G NP_001181927.1:p.Glu406= NC_000015.10:48784075:T:C p.(Glu406=) NC_000015.10:48784075:T:C p.(Glu406=) NC_000015.10:48784075:T:C Identity +NM_001160227.2:c.5367G>A NP_001153699.1:p.Val1789= NC_000015.10:44584312:C:T p.(Val1789=) NC_000015.10:44584312:C:T p.(Val1789=) NC_000015.10:44584312:C:T Identity +NM_000051.4:c.3624C>T NP_000042.3:p.Asp1208= NC_000011.10:108282756:C:T p.(Asp1208=) NC_000011.10:108282756:C:T p.(Asp1208=) NC_000011.10:108282756:C:T Identity +NM_001127215.3:c.99G>C NP_001120687.1:p.Pro33= NC_000001.11:92483388:C:G p.(Pro33=) NC_000001.11:92483388:C:G p.(Pro33=) NC_000001.11:92483388:C:G Identity +NM_001199397.3:c.693C>G NP_001186326.1:p.Leu231= NC_000004.12:169585462:G:C p.(Leu231=) NC_000004.12:169585462:G:C p.(Leu231=) NC_000004.12:169585462:G:C Identity +NM_000443.4:c.1449C>T NP_000434.1:p.Ser483= NC_000007.14:87440309:G:A p.(Ser483=) NC_000007.14:87440309:G:A p.(Ser483=) NC_000007.14:87440309:G:A Identity +NM_003108.4:c.675CGA[7] NP_003099.1:p.Asp232_Asp233del NC_000002.12:5693393:GACGACGACGACGACGACGACGACGACGA:GACGACGACGACGACGACGACGA p.(Asp232_Asp233del) NC_000002.12:5693395:C:CGACGACGACGACGACGACGA ERR:Parse ERR:Parse Identity +NM_000318.3:c.828G>A NP_000309.2:p.Val276= NC_000008.11:76983350:C:T p.(Val276=) NC_000008.11:76983350:C:T p.(Val276=) NC_000008.11:76983350:C:T Identity +NM_003742.4:c.1950C>T NP_003733.2:p.Tyr650= NC_000002.12:168969410:G:A p.(Tyr650=) NC_000002.12:168969410:G:A p.(Tyr650=) NC_000002.12:168969410:G:A Identity +NM_000553.6:c.1596C>T NP_000544.2:p.Pro532= NC_000008.11:31088908:C:T p.(Pro532=) NC_000008.11:31088908:C:T p.(Pro532=) NC_000008.11:31088908:C:T Identity +NM_014249.4:c.147G>T NP_055064.1:p.Val49= NC_000015.10:71811510:G:T p.(Val49=) NC_000015.10:71811510:G:T p.(Val49=) NC_000015.10:71811510:G:T Identity +NM_016239.4:c.2847C>T NP_057323.3:p.Ser949= NC_000017.11:18121646:C:T p.(Ser949=) NC_000017.11:18121646:C:T p.(Ser949=) NC_000017.11:18121646:C:T Identity +NM_001271427.2:c.2595T>G NP_001258356.1:p.Pro865= NC_000001.11:19220837:A:C p.(Pro865=) NC_000001.11:19220837:A:C p.(Pro865=) NC_000001.11:19220837:A:C Identity +NM_001199397.3:c.1950A>G NP_001186326.1:p.Gln650= NC_000004.12:169507093:T:C p.(Gln650=) NC_000004.12:169507093:T:C p.(Gln650=) NC_000004.12:169507093:T:C Identity +NM_001376.5:c.13365A>G NP_001367.2:p.Leu4455= NC_000014.9:102048661:A:G p.(Leu4455=) NC_000014.9:102048661:A:G p.(Leu4455=) NC_000014.9:102048661:A:G Identity +NM_000545.8:c.1770G>A NP_000536.6:p.Val590= NC_000012.12:121001065:G:A p.(Val590=) NC_000012.12:121001065:G:A p.(Val590=) NC_000012.12:121001065:G:A Identity +NM_001353229.2:c.279G>C NP_001340158.1:p.Pro93= NC_000017.11:17226292:C:G p.(Pro93=) NC_000017.11:17226292:C:G p.(Pro93=) NC_000017.11:17226292:C:G Identity +NM_004104.5:c.5010G>A NP_004095.4:p.Thr1670= NC_000017.11:82084062:C:T p.(Thr1670=) NC_000017.11:82084062:C:T p.(Thr1670=) NC_000017.11:82084062:C:T Identity +NM_000124.4:c.477T>G NP_000115.1:p.Pro159= NC_000010.11:49530785:A:C p.(Pro159=) NC_000010.11:49530785:A:C p.(Pro159=) NC_000010.11:49530785:A:C Identity +NM_001171930.2:c.2034C>T NP_001165401.1:p.Val678= NC_000010.11:71687693:C:T p.(Val678=) NC_000010.11:71687693:C:T p.(Val678=) NC_000010.11:71687693:C:T Identity +NM_007312.3:c.75C>G NP_009296.1:p.Pro25= NC_000003.12:50302881:G:C ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_001303276.2:c.1398G>A NP_001290205.1:p.Glu466= NC_000017.11:75233078:G:A p.(Glu466=) NC_000017.11:75233078:G:A p.(Glu466=) NC_000017.11:75233078:G:A Identity +NM_031310.3:c.1197A>C NP_112600.1:p.Pro399= NC_000019.10:17360814:T:G p.(Pro399=) NC_000019.10:17360814:T:G p.(Pro399=) NC_000019.10:17360814:T:G Identity +NM_005094.4:c.741C>G NP_005085.2:p.Ser247= NC_000009.12:128350336:C:G p.(Ser247=) NC_000009.12:128350336:C:G p.(Ser247=) NC_000009.12:128350336:C:G Identity +NM_001190274.2:c.447A>G NP_001177203.1:p.Ala149= NC_000002.12:47838998:T:C p.(Ala149=) NC_000002.12:47838998:T:C p.(Ala149=) NC_000002.12:47838998:T:C Identity +NM_001144996.2:c.1512G>A NP_001138468.1:p.Ser504= NC_000012.12:55697455:C:T p.(Ser504=) NC_000012.12:55697455:C:T p.(Ser504=) NC_000012.12:55697455:C:T Identity +NM_000081.4:c.9738C>T NP_000072.2:p.Phe3246= NC_000001.11:235715246:G:A p.(Phe3246=) NC_000001.11:235715246:G:A p.(Phe3246=) NC_000001.11:235715246:G:A Identity +NM_000199.5:c.270G>A NP_000190.1:p.Gly90= NC_000017.11:80215117:C:T p.(Gly90=) NC_000017.11:80215117:C:T p.(Gly90=) NC_000017.11:80215117:C:T Identity +NM_152393.4:c.177G>A NP_689606.2:p.Arg59= NC_000003.12:42685794:G:A p.(Arg59=) NC_000003.12:42685794:G:A p.(Arg59=) NC_000003.12:42685794:G:A Identity +NM_003124.5:c.603G>A NP_003115.1:p.Leu201= NC_000002.12:72891353:G:A p.(Leu201=) NC_000002.12:72891353:G:A p.(Leu201=) NC_000002.12:72891353:G:A Identity +NM_139057.4:c.525A>G NP_620688.2:p.Gly175= NC_000015.10:100330979:T:C p.(Gly175=) NC_000015.10:100330979:T:C p.(Gly175=) NC_000015.10:100330979:T:C Identity +NM_001193493.2:c.174T>C NP_001180422.1:p.Ile58= NC_000002.12:65018103:T:C p.(Ile58=) NC_000002.12:65018103:T:C p.(Ile58=) NC_000002.12:65018103:T:C Identity +NM_004523.4:c.2784G>A NP_004514.2:p.Gln928= NC_000010.11:92649847:G:A p.(Gln928=) NC_000010.11:92649847:G:A p.(Gln928=) NC_000010.11:92649847:G:A Identity +NM_001018037.2:c.5898A>T NP_001018047.1:p.Pro1966= NC_000009.12:77332032:A:T p.(Pro1966=) NC_000009.12:77332032:A:T p.(Pro1966=) NC_000009.12:77332032:A:T Identity +NM_002444.3:c.1177_1203del NP_002435.1:p.Arg393_Glu401del NC_000023.11:65737253:GGCCAAGGAGCGTCAAGAAGCTGAAGAGGCCAAGGAG:GGCCAAGGAG p.(Arg393_Glu401del) NC_000023.11:65737253:GGCCAAGGAGCGTCAAGAAGCTGAAGAGGCCAAGGAG:GGCCAAGGAG p.(Arg393_Glu401del) NC_000023.11:65737263:CGTCAAGAAGCTGAAGAGGCCAAGGAG: Identity +NM_001163817.2:c.129C>T NP_001157289.1:p.Val43= NC_000011.10:71444184:G:A p.(Val43=) NC_000011.10:71444184:G:A p.(Val43=) NC_000011.10:71444184:G:A Identity +NM_001127198.5:c.1308T>C NP_001120670.1:p.Leu436= NC_000017.11:78121630:A:G p.(Leu436=) NC_000017.11:78121630:A:G p.(Leu436=) NC_000017.11:78121630:A:G Identity +NM_000092.5:c.1524T>C NP_000083.3:p.Pro508= NC_000002.12:227088751:A:G p.(Pro508=) NC_000002.12:227088751:A:G p.(Pro508=) NC_000002.12:227088751:A:G Identity +NM_000456.3:c.1032T>C NP_000447.2:p.Ala344= NC_000012.12:56004420:T:C p.(Ala344=) NC_000012.12:56004420:T:C p.(Ala344=) NC_000012.12:56004420:T:C Identity +NM_001349610.2:c.1662T>C NP_001336539.1:p.Ala554= NC_000001.11:7664208:T:C p.(Ala554=) NC_000001.11:7664208:T:C p.(Ala554=) NC_000001.11:7664208:T:C Identity +NM_001320613.2:c.480G>C NP_001307542.1:p.Ala160= NC_000002.12:24918507:C:G p.(Ala160=) NC_000002.12:24918507:C:G p.(Ala160=) NC_000002.12:24918507:C:G Identity +NM_025074.7:c.7278G>A NP_079350.5:p.Gln2426= NC_000004.12:78469997:G:A p.(Gln2426=) NC_000004.12:78469997:G:A p.(Gln2426=) NC_000004.12:78469997:G:A Identity +NM_001173466.2:c.945G>A NP_001166937.1:p.Leu315= NC_000012.12:53308767:C:T p.(Leu315=) NC_000012.12:53308767:C:T p.(Leu315=) NC_000012.12:53308767:C:T Identity +NM_014363.6:c.360T>C NP_055178.3:p.Asn120= NC_000013.11:23365262:A:G p.(Asn120=) NC_000013.11:23365262:A:G p.(Asn120=) NC_000013.11:23365262:A:G Identity +NM_016239.4:c.6066G>A NP_057323.3:p.Val2022= NC_000017.11:18143888:G:A p.(Val2022=) NC_000017.11:18143888:G:A p.(Val2022=) NC_000017.11:18143888:G:A Identity +NM_032119.4:c.14649T>G NP_115495.3:p.Ala4883= NC_000005.10:90802869:T:G p.(Ala4883=) NC_000005.10:90802869:T:G p.(Ala4883=) NC_000005.10:90802869:T:G Identity +NM_001014763.1:c.429C>G NP_001014763.1:p.Leu143= NC_000019.10:51354209:G:C p.(Leu143=) NC_000019.10:51354209:G:C p.(Leu143=) NC_000019.10:51354209:G:C Identity +NM_000294.3:c.1143T>A NP_000285.1:p.Pro381= NC_000016.10:30757018:T:A p.(Pro381=) NC_000016.10:30757018:T:A p.(Pro381=) NC_000016.10:30757018:T:A Identity +NM_000059.4:c.6348C>T NP_000050.3:p.His2116= NC_000013.11:32340702:C:T p.(His2116=) NC_000013.11:32340702:C:T p.(His2116=) NC_000013.11:32340702:C:T Identity +NM_001303110.2:c.930A>C NP_001290039.1:p.Pro310= NC_000013.11:110205379:T:G p.(Pro310=) NC_000013.11:110205379:T:G p.(Pro310=) NC_000013.11:110205379:T:G Identity +NM_001315529.2:c.2106C>A NP_001302458.1:p.Arg702= NC_000021.9:46363784:C:A p.(Arg702=) NC_000021.9:46363784:C:A p.(Arg702=) NC_000021.9:46363784:C:A Identity +NM_000261.2:c.1131G>A NP_000252.1:p.Thr377= NC_000001.11:171636308:C:T p.(Thr377=) NC_000001.11:171636308:C:T p.(Thr377=) NC_000001.11:171636308:C:T Identity +NM_001160227.2:c.1641C>T NP_001153699.1:p.Phe547= NC_000015.10:44633598:G:A p.(Phe547=) NC_000015.10:44633598:G:A p.(Phe547=) NC_000015.10:44633598:G:A Identity +NM_001317184.2:c.2334T>C NP_001304113.1:p.Gly778= NC_000016.10:68833366:T:C p.(Gly778=) NC_000016.10:68833366:T:C p.(Gly778=) NC_000016.10:68833366:T:C Identity +NM_001174089.2:c.1173G>T NP_001167560.1:p.Val391= NC_000020.11:3230840:C:A p.(Val391=) NC_000020.11:3230840:C:A p.(Val391=) NC_000020.11:3230840:C:A Identity +NM_001204182.2:c.711A>G NP_001191111.1:p.Pro237= NC_000001.11:211670334:T:C p.(Pro237=) NC_000001.11:211670334:T:C p.(Pro237=) NC_000001.11:211670334:T:C Identity +NM_001040610.3:c.1425G>A NP_001035700.1:p.Gly475= NC_000015.10:82219684:C:T p.(Gly475=) NC_000015.10:82219684:C:T p.(Gly475=) NC_000015.10:82219684:C:T Identity +NM_001089.3:c.684T>C NP_001080.2:p.Asp228= NC_000016.10:2319769:A:G p.(Asp228=) NC_000016.10:2319769:A:G p.(Asp228=) NC_000016.10:2319769:A:G Identity +NM_006929.5:c.1918C>T NP_008860.4:p.Leu640= NC_000006.12:31964288:C:T p.(Leu640=) NC_000006.12:31964288:C:T p.(Leu640=) NC_000006.12:31964288:C:T Identity +NM_032888.4:c.3423G>A NP_116277.2:p.Gly1141= NC_000009.12:114266593:G:A p.(Gly1141=) NC_000009.12:114266593:G:A p.(Gly1141=) NC_000009.12:114266593:G:A Identity +NM_000081.4:c.1563T>C NP_000072.2:p.Val521= NC_000001.11:235809254:A:G p.(Val521=) NC_000001.11:235809254:A:G p.(Val521=) NC_000001.11:235809254:A:G Identity +NM_001083962.2:c.552C>G NP_001077431.1:p.Val184= NC_000018.10:55279653:G:C p.(Val184=) NC_000018.10:55279653:G:C p.(Val184=) NC_000018.10:55279653:G:C Identity +NM_001014797.3:c.1600C>T NP_001014797.1:p.Leu534= NC_000010.11:77073245:G:A p.(Leu534=) NC_000010.11:77073245:G:A p.(Leu534=) NC_000010.11:77073245:G:A Identity +NM_032888.4:c.4746G>C NP_116277.2:p.Ser1582= NC_000009.12:114301115:G:C p.(Ser1582=) NC_000009.12:114301115:G:C p.(Ser1582=) NC_000009.12:114301115:G:C Identity +NM_206933.4:c.10038A>T NP_996816.3:p.Ala3346= NC_000001.11:215790202:T:A p.(Ala3346=) NC_000001.11:215790202:T:A p.(Ala3346=) NC_000001.11:215790202:T:A Identity +NM_000215.4:c.2829C>T NP_000206.2:p.Arg943= NC_000019.10:17831376:G:A p.(Arg943=) NC_000019.10:17831376:G:A p.(Arg943=) NC_000019.10:17831376:G:A Identity +NM_000135.4:c.1704C>T NP_000126.2:p.Val568= NC_000016.10:89779879:G:A p.(Val568=) NC_000016.10:89779879:G:A p.(Val568=) NC_000016.10:89779879:G:A Identity +NM_000080.4:c.99C>T NP_000071.1:p.Asn33= NC_000017.11:4902710:G:A p.(Asn33=) NC_000017.11:4902710:G:A p.(Asn33=) NC_000017.11:4902710:G:A Identity +NM_014510.3:c.2655T>A NP_055325.2:p.Ala885= NC_000007.14:83134894:A:T p.(Ala885=) NC_000007.14:83134894:A:T p.(Ala885=) NC_000007.14:83134894:A:T Identity +NM_025074.7:c.8136A>G NP_079350.5:p.Thr2712= NC_000004.12:78479410:A:G p.(Thr2712=) NC_000004.12:78479410:A:G p.(Thr2712=) NC_000004.12:78479410:A:G Identity +NM_001411101.1:c.1212G>A NP_001398030.1:p.Leu404= NC_000017.11:82814878:G:A p.(Leu404=) NC_000017.11:82814878:G:A p.(Leu404=) NC_000017.11:82814878:G:A Identity +NM_001308258.2:c.381G>T NP_001295187.1:p.Leu127= NC_000003.12:149141179:G:T p.(Leu127=) NC_000003.12:149141179:G:T p.(Leu127=) NC_000003.12:149141179:G:T Identity +NM_001376.5:c.12714C>T NP_001367.2:p.Ile4238= NC_000014.9:102044302:C:T p.(Ile4238=) NC_000014.9:102044302:C:T p.(Ile4238=) NC_000014.9:102044302:C:T Identity +NM_001256324.2:c.1647C>T NP_001243253.1:p.Gly549= NC_000017.11:50576048:C:T p.(Gly549=) NC_000017.11:50576048:C:T p.(Gly549=) NC_000017.11:50576048:C:T Identity +NM_001301738.2:c.213C>T NP_001288667.1:p.Arg71= NC_000005.10:139481491:G:A p.(Arg71=) NC_000005.10:139481491:G:A p.(Arg71=) NC_000005.10:139481491:G:A Identity +NM_004855.5:c.927C>T NP_004846.4:p.His309= NC_000015.10:55340691:C:T p.(His309=) NC_000015.10:55340691:C:T p.(His309=) NC_000015.10:55340691:C:T Identity +NM_001371411.1:c.1197T>C NP_001358340.1:p.Asn399= NC_000002.12:227688282:A:G p.(Asn399=) NC_000002.12:227688282:A:G p.(Asn399=) NC_000002.12:227688282:A:G Identity +LRG_782t2:c.1641G>A LRG_782p2:p.Val547= NC_000023.11:124062903:G:A ERR:Data provider error: ValueError: Transcript LRG_782t2 not found ERR:Data provider error: ValueError: Transcript LRG_782t2 not found ERR:AlignmentMapper(tx_ac=LRG_782t2, alt_ac=LRG_782t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_782t2, alt_ac=LRG_782t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_782t2 not found +NM_000277.3:c.432T>C NP_000268.1:p.Ala144= NC_000012.12:102877470:A:G p.(Ala144=) NC_000012.12:102877470:A:G p.(Ala144=) NC_000012.12:102877470:A:G Identity +NM_000271.5:c.2556C>G NP_000262.2:p.Val852= NC_000018.10:23540495:G:C p.(Val852=) NC_000018.10:23540495:G:C p.(Val852=) NC_000018.10:23540495:G:C Identity +NM_001257096.2:c.579C>T NP_001244025.1:p.Ala193= NC_000020.11:21706729:C:T p.(Ala193=) NC_000020.11:21706729:C:T p.(Ala193=) NC_000020.11:21706729:C:T Identity +NM_001164317.2:c.690T>G NP_001157789.1:p.Val230= NC_000003.12:58081678:T:G p.(Val230=) NC_000003.12:58081678:T:G p.(Val230=) NC_000003.12:58081678:T:G Identity +NM_001411101.1:c.138G>T NP_001398030.1:p.Val46= NC_000017.11:82752330:G:T p.(Val46=) NC_000017.11:82752330:G:T p.(Val46=) NC_000017.11:82752330:G:T Identity +NM_001318360.2:c.2055A>C NP_001305289.1:p.Ala685= NC_000009.12:108897251:T:G p.(Ala685=) NC_000009.12:108897251:T:G p.(Ala685=) NC_000009.12:108897251:T:G Identity +NM_152468.5:c.1020C>T NP_689681.2:p.Pro340= NC_000017.11:78134901:C:T p.(Pro340=) NC_000017.11:78134901:C:T p.(Pro340=) NC_000017.11:78134901:C:T Identity +NM_001378454.1:c.6327G>A NP_001365383.1:p.Leu2109= NC_000002.12:73452853:G:A p.(Leu2109=) NC_000002.12:73452853:G:A p.(Leu2109=) NC_000002.12:73452853:G:A Identity +NM_015346.4:c.2058G>A NP_056161.2:p.Gly686= NC_000014.9:67798203:C:T p.(Gly686=) NC_000014.9:67798203:C:T p.(Gly686=) NC_000014.9:67798203:C:T Identity +NM_152383.5:c.2451G>T NP_689596.4:p.Thr817= NC_000002.12:232335828:G:T p.(Thr817=) NC_000002.12:232335828:G:T p.(Thr817=) NC_000002.12:232335828:G:T Identity +NM_001164821.2:c.948T>C NP_001158293.1:p.Val316= NC_000002.12:171468996:T:C p.(Val316=) NC_000002.12:171468996:T:C p.(Val316=) NC_000002.12:171468996:T:C Identity +NM_001220767.2:c.411C>T NP_001207696.1:p.His137= NC_000007.14:50387426:C:T p.(His137=) NC_000007.14:50387426:C:T p.(His137=) NC_000007.14:50387426:C:T Identity +NM_000079.4:c.459C>T NP_000070.1:p.Thr153= NC_000002.12:174754299:G:A p.(Thr153=) NC_000002.12:174754299:G:A p.(Thr153=) NC_000002.12:174754299:G:A Identity +NM_006231.4:c.744C>T NP_006222.2:p.Tyr248= NC_000012.12:132677419:G:A p.(Tyr248=) NC_000012.12:132677419:G:A p.(Tyr248=) NC_000012.12:132677419:G:A Identity +NM_001316350.2:c.1386T>C NP_001303279.1:p.Asp462= NC_000001.11:231272357:T:C p.(Asp462=) NC_000001.11:231272357:T:C p.(Asp462=) NC_000001.11:231272357:T:C Identity +NM_020699.4:c.1254T>C NP_065750.1:p.Phe418= NC_000001.11:153813414:A:G p.(Phe418=) NC_000001.11:153813414:A:G p.(Phe418=) NC_000001.11:153813414:A:G Identity +NM_015657.4:c.5655G>A NP_056472.2:p.Leu1885= NC_000002.12:214953891:C:T p.(Leu1885=) NC_000002.12:214953891:C:T p.(Leu1885=) NC_000002.12:214953891:C:T Identity +NM_004525.3:c.1905A>G NP_004516.2:p.Pro635= NC_000002.12:169275105:T:C p.(Pro635=) NC_000002.12:169275105:T:C p.(Pro635=) NC_000002.12:169275105:T:C Identity +NM_000064.4:c.1701C>T NP_000055.2:p.Ser567= NC_000019.10:6709827:G:A p.(Ser567=) NC_000019.10:6709827:G:A p.(Ser567=) NC_000019.10:6709827:G:A Identity +NM_000302.4:c.771C>T NP_000293.2:p.Ile257= NC_000001.11:11957870:C:T p.(Ile257=) NC_000001.11:11957870:C:T p.(Ile257=) NC_000001.11:11957870:C:T Identity +NM_000254.3:c.1398G>A NP_000245.2:p.Lys466= NC_000001.11:236838481:G:A p.(Lys466=) NC_000001.11:236838481:G:A p.(Lys466=) NC_000001.11:236838481:G:A Identity +NM_001127671.2:c.1335T>C NP_001121143.1:p.Asn445= NC_000005.10:38504077:A:G p.(Asn445=) NC_000005.10:38504077:A:G p.(Asn445=) NC_000005.10:38504077:A:G Identity +NM_001024847.3:c.828G>A NP_001020018.1:p.Gly276= NC_000003.12:30671935:G:A p.(Gly276=) NC_000003.12:30671935:G:A p.(Gly276=) NC_000003.12:30671935:G:A Identity +NM_001197104.2:c.9711T>A NP_001184033.1:p.Leu3237= NC_000011.10:118505602:T:A p.(Leu3237=) NC_000011.10:118505602:T:A p.(Leu3237=) NC_000011.10:118505602:T:A Identity +NM_052859.4:c.642A>G NP_443091.1:p.Gln214= NC_000003.12:53119937:T:C p.(Gln214=) NC_000003.12:53119937:T:C p.(Gln214=) NC_000003.12:53119937:T:C Identity +NM_000038.6:c.936G>A NP_000029.2:p.Val312= NC_000005.10:112818967:G:A p.(Val312=) NC_000005.10:112818967:G:A p.(Val312=) NC_000005.10:112818967:G:A Identity +NM_001127198.5:c.498C>T NP_001120670.1:p.Arg166= NC_000017.11:78125195:G:A p.(Arg166=) NC_000017.11:78125195:G:A p.(Arg166=) NC_000017.11:78125195:G:A Identity +NM_001330358.2:c.1890C>T NP_001317287.1:p.Ala630= NC_000001.11:11790883:G:A p.(Ala630=) NC_000001.11:11790883:G:A p.(Ala630=) NC_000001.11:11790883:G:A Identity +NM_001105077.4:c.1134C>T NP_001098547.3:p.His378= NC_000003.12:169116368:G:A p.(His378=) NC_000003.12:169116368:G:A p.(His378=) NC_000003.12:169116368:G:A Identity +NM_001278055.2:c.11013A>G NP_001264984.1:p.Glu3671= NC_000013.11:23332421:T:C p.(Glu3671=) NC_000013.11:23332421:T:C p.(Glu3671=) NC_000013.11:23332421:T:C Identity +NM_000392.5:c.3753C>A NP_000383.2:p.Thr1251= NC_000010.11:99843809:C:A p.(Thr1251=) NC_000010.11:99843809:C:A p.(Thr1251=) NC_000010.11:99843809:C:A Identity +NM_001393363.1:c.549G>A NP_001380292.1:p.Arg183= NC_000003.12:33120420:G:A p.(Arg183=) NC_000003.12:33120420:G:A p.(Arg183=) NC_000003.12:33120420:G:A Identity +NM_004813.4:c.891C>G NP_004804.2:p.Ala297= NC_000011.10:45910958:G:C p.(Ala297=) NC_000011.10:45910958:G:C p.(Ala297=) NC_000011.10:45910958:G:C Identity +NM_001282404.2:c.126C>T NP_001269333.1:p.Pro42= NC_000007.14:76060389:C:T p.(Pro42=) NC_000007.14:76060389:C:T p.(Pro42=) NC_000007.14:76060389:C:T Identity +NM_000436.4:c.1374A>G NP_000427.1:p.Leu458= NC_000005.10:41749571:T:C p.(Leu458=) NC_000005.10:41749571:T:C p.(Leu458=) NC_000005.10:41749571:T:C Identity +NM_001256864.2:c.2235T>C NP_001243793.1:p.Ser745= NC_000001.11:65405876:T:C p.(Ser745=) NC_000001.11:65405876:T:C p.(Ser745=) NC_000001.11:65405876:T:C Identity +NM_001306079.2:c.5562G>A NP_001293008.1:p.Leu1854= NC_000002.12:27241169:G:A p.(Leu1854=) NC_000002.12:27241169:G:A p.(Leu1854=) NC_000002.12:27241169:G:A Identity +NM_032888.4:c.1875G>A NP_116277.2:p.Gly625= NC_000009.12:114169429:G:A p.(Gly625=) NC_000009.12:114169429:G:A p.(Gly625=) NC_000009.12:114169429:G:A Identity +NM_000310.4:c.579T>C NP_000301.1:p.Asp193= NC_000001.11:40080444:A:G p.(Asp193=) NC_000001.11:40080444:A:G p.(Asp193=) NC_000001.11:40080444:A:G Identity +NM_000170.3:c.2304G>C NP_000161.2:p.Gly768= NC_000009.12:6554679:C:G p.(Gly768=) NC_000009.12:6554679:C:G p.(Gly768=) NC_000009.12:6554679:C:G Identity +NM_000489.6:c.1302C>A NP_000480.3:p.Val434= NC_000023.11:77683953:G:T p.(Val434=) NC_000023.11:77683953:G:T p.(Val434=) NC_000023.11:77683953:G:T Identity +NM_000495.5:c.4749T>C NP_000486.1:p.Ile1583= NC_000023.11:108694866:T:C p.(Ile1583=) NC_000023.11:108694866:T:C p.(Ile1583=) NC_000023.11:108694866:T:C Identity +NM_021939.4:c.988C>T NP_068758.3:p.Leu330= NC_000017.11:41819599:C:T p.(Leu330=) NC_000017.11:41819599:C:T p.(Leu330=) NC_000017.11:41819599:C:T Identity +NM_001320687.1:c.1875A>G NP_001307616.1:p.Glu625= NC_000015.10:68187747:A:G p.(Glu625=) NC_000015.10:68187747:A:G p.(Glu625=) NC_000015.10:68187747:A:G Identity +NM_001362884.2:c.1584G>A NP_001349813.1:p.Glu528= NC_000008.11:20249928:C:T p.(Glu528=) NC_000008.11:20249928:C:T p.(Glu528=) NC_000008.11:20249928:C:T Identity +NM_001079846.1:c.6396C>G NP_001073315.1:p.Ala2132= NC_000016.10:3728536:G:C p.(Ala2132=) NC_000016.10:3728536:G:C p.(Ala2132=) NC_000016.10:3728536:G:C Identity +NM_001166133.2:c.5490A>G NP_001159605.1:p.Glu1830= NC_000004.12:78439024:A:G p.(Glu1830=) NC_000004.12:78439024:A:G p.(Glu1830=) NC_000004.12:78439024:A:G Identity +NM_002439.5:c.759A>G NP_002430.3:p.Gly253= NC_000005.10:80670275:A:G p.(Gly253=) NC_000005.10:80670275:A:G p.(Gly253=) NC_000005.10:80670275:A:G Identity +NM_001367624.2:c.8712C>T NP_001354553.1:p.Gly2904= NC_000016.10:88436181:C:T p.(Gly2904=) NC_000016.10:88436181:C:T p.(Gly2904=) NC_000016.10:88436181:C:T Identity +NM_001374385.1:c.1215T>C NP_001361314.1:p.Tyr405= NC_000018.10:57691811:A:G p.(Tyr405=) NC_000018.10:57691811:A:G p.(Tyr405=) NC_000018.10:57691811:A:G Identity +NM_001406665.1:c.3753T>C NP_001393594.1:p.Gly1251= NC_000016.10:2082505:T:C p.(Gly1251=) NC_000016.10:2082505:T:C p.(Gly1251=) NC_000016.10:2082505:T:C Identity +NM_014845.6:c.1731T>C NP_055660.1:p.Tyr577= NC_000006.12:109766875:T:C p.(Tyr577=) NC_000006.12:109766875:T:C p.(Tyr577=) NC_000006.12:109766875:T:C Identity +NM_001166102.2:c.363C>A NP_001159574.1:p.Ile121= NC_000011.10:67609514:C:A p.(Ile121=) NC_000011.10:67609514:C:A p.(Ile121=) NC_000011.10:67609514:C:A Identity +NM_000512.5:c.1563C>A NP_000503.1:p.Ser521= NC_000016.10:88814444:G:T p.(Ser521=) NC_000016.10:88814444:G:T p.(Ser521=) NC_000016.10:88814444:G:T Identity +NM_001089.3:c.4137A>C NP_001080.2:p.Thr1379= NC_000016.10:2281407:T:G p.(Thr1379=) NC_000016.10:2281407:T:G p.(Thr1379=) NC_000016.10:2281407:T:G Identity +NM_000103.4:c.1413A>T NP_000094.2:p.Ile471= NC_000015.10:51210906:T:A p.(Ile471=) NC_000015.10:51210906:T:A p.(Ile471=) NC_000015.10:51210906:T:A Identity +NM_000199.5:c.1110C>A NP_000190.1:p.Val370= NC_000017.11:80210850:G:T p.(Val370=) NC_000017.11:80210850:G:T p.(Val370=) NC_000017.11:80210850:G:T Identity +NM_001281737.2:c.1245G>T NP_001268666.1:p.Leu415= NC_000004.12:158706288:G:T p.(Leu415=) NC_000004.12:158706288:G:T p.(Leu415=) NC_000004.12:158706288:G:T Identity +NM_022166.4:c.981A>G NP_071449.1:p.Arg327= NC_000016.10:17200586:T:C p.(Arg327=) NC_000016.10:17200586:T:C p.(Arg327=) NC_000016.10:17200586:T:C Identity +NM_003801.4:c.228C>T NP_003792.1:p.Asp76= NC_000008.11:144083276:C:T p.(Asp76=) NC_000008.11:144083276:C:T p.(Asp76=) NC_000008.11:144083276:C:T Identity +NM_001386500.1:c.1803A>G NP_001373429.1:p.Gln601= NC_000001.11:11238600:T:C p.(Gln601=) NC_000001.11:11238600:T:C p.(Gln601=) NC_000001.11:11238600:T:C Identity +NM_014727.3:c.117G>A NP_055542.1:p.Gly39= NC_000019.10:35718134:G:A p.(Gly39=) NC_000019.10:35718134:G:A p.(Gly39=) NC_000019.10:35718134:G:A Identity +NM_006766.5:c.5988A>G NP_006757.2:p.Ser1996= NC_000008.11:41932231:T:C p.(Ser1996=) NC_000008.11:41932231:T:C p.(Ser1996=) NC_000008.11:41932231:T:C Identity +NM_014714.4:c.1593G>A NP_055529.2:p.Gly531= NC_000016.10:1571465:C:T p.(Gly531=) NC_000016.10:1571465:C:T p.(Gly531=) NC_000016.10:1571465:C:T Identity +NM_001001890.3:c.1308C>T NP_001001890.1:p.Pro436= NC_000021.9:34792188:G:A p.(Pro436=) NC_000021.9:34792188:G:A p.(Pro436=) NC_000021.9:34792188:G:A Identity +NM_000222.3:c.2907T>C NP_000213.1:p.Pro969= NC_000004.12:54738532:T:C p.(Pro969=) NC_000004.12:54738532:T:C p.(Pro969=) NC_000004.12:54738532:T:C Identity +NM_001130455.2:c.3924G>A NP_001123927.1:p.Leu1308= NC_000002.12:71611261:G:A p.(Leu1308=) NC_000002.12:71611261:G:A p.(Leu1308=) NC_000002.12:71611261:G:A Identity +NM_001199.4:c.1803C>T NP_001190.1:p.Ser601= NC_000008.11:22196716:C:T p.(Ser601=) NC_000008.11:22196716:C:T p.(Ser601=) NC_000008.11:22196716:C:T Identity +NM_032888.4:c.5031G>A NP_116277.2:p.Lys1677= NC_000009.12:114306611:G:A p.(Lys1677=) NC_000009.12:114306611:G:A p.(Lys1677=) NC_000009.12:114306611:G:A Identity +NM_001411101.1:c.2889C>T NP_001398030.1:p.Tyr963= NC_000017.11:82929448:C:T p.(Tyr963=) NC_000017.11:82929448:C:T p.(Tyr963=) NC_000017.11:82929448:C:T Identity +NM_000268.4:c.1605G>T NP_000259.1:p.Leu535= NC_000022.11:29681468:G:T p.(Leu535=) NC_000022.11:29681468:G:T p.(Leu535=) NC_000022.11:29681468:G:T Identity +NM_000033.4:c.912C>G NP_000024.2:p.Ala304= NC_000023.11:153729242:C:G p.(Ala304=) NC_000023.11:153729242:C:G p.(Ala304=) NC_000023.11:153729242:C:G Identity +NM_001128844.3:c.3924G>A NP_001122316.1:p.Arg1308= NC_000019.10:11034172:G:A p.(Arg1308=) NC_000019.10:11034172:G:A p.(Arg1308=) NC_000019.10:11034172:G:A Identity +NM_001079846.1:c.1443G>A NP_001073315.1:p.Arg481= NC_000016.10:3782699:C:T p.(Arg481=) NC_000016.10:3782699:C:T p.(Arg481=) NC_000016.10:3782699:C:T Identity +NM_004525.3:c.4980T>A NP_004516.2:p.Arg1660= NC_000002.12:169233528:A:T p.(Arg1660=) NC_000002.12:169233528:A:T p.(Arg1660=) NC_000002.12:169233528:A:T Identity +NM_001287489.2:c.1143C>T NP_001274418.1:p.Gly381= NC_000002.12:26484535:G:A p.(Gly381=) NC_000002.12:26484535:G:A p.(Gly381=) NC_000002.12:26484535:G:A Identity +NM_000081.4:c.1602A>G NP_000072.2:p.Glu534= NC_000001.11:235809215:T:C p.(Glu534=) NC_000001.11:235809215:T:C p.(Glu534=) NC_000001.11:235809215:T:C Identity +NM_000540.3:c.4209C>T NP_000531.2:p.Ala1403= NC_000019.10:38475365:C:T p.(Ala1403=) NC_000019.10:38475365:C:T p.(Ala1403=) NC_000019.10:38475365:C:T Identity +NM_001288653.2:c.3039G>A NP_001275582.1:p.Glu1013= NC_000017.11:59681018:G:A p.(Glu1013=) NC_000017.11:59681018:G:A p.(Glu1013=) NC_000017.11:59681018:G:A Identity +NM_000428.3:c.957A>G NP_000419.1:p.Pro319= NC_000014.9:74555566:T:C p.(Pro319=) NC_000014.9:74555566:T:C p.(Pro319=) NC_000014.9:74555566:T:C Identity +NM_004525.3:c.7599G>A NP_004516.2:p.Glu2533= NC_000002.12:169205594:C:T p.(Glu2533=) NC_000002.12:169205594:C:T p.(Glu2533=) NC_000002.12:169205594:C:T Identity +NM_001242385.2:c.66G>A NP_001229314.1:p.Lys22= NC_000006.12:10830582:C:T p.(Lys22=) NC_000006.12:10830582:C:T p.(Lys22=) NC_000006.12:10830582:C:T Identity +NM_001145873.1:c.672G>C NP_001139345.1:p.Ser224= NC_000002.12:86785955:C:G p.(Ser224=) NC_000002.12:86785955:C:G p.(Ser224=) NC_000002.12:86785955:C:G Identity +NM_001271668.2:c.189G>A NP_001258597.1:p.Val63= NC_000006.12:15627457:C:T p.(Val63=) NC_000006.12:15627457:C:T p.(Val63=) NC_000006.12:15627457:C:T Identity +NM_001142800.2:c.7941G>A NP_001136272.1:p.Glu2647= NC_000006.12:63762590:C:T p.(Glu2647=) NC_000006.12:63762590:C:T p.(Glu2647=) NC_000006.12:63762590:C:T Identity +NM_024577.4:c.1806G>A NP_078853.2:p.Leu602= NC_000005.10:149027925:C:T p.(Leu602=) NC_000005.10:149027925:C:T p.(Leu602=) NC_000005.10:149027925:C:T Identity +NM_001272073.2:c.948C>T NP_001259002.1:p.Tyr316= NC_000003.12:49100453:G:A p.(Tyr316=) NC_000003.12:49100453:G:A p.(Tyr316=) NC_000003.12:49100453:G:A Identity +NM_005157.6:c.2346T>A NP_005148.2:p.Pro782= NC_000009.12:130884635:T:A p.(Pro782=) NC_000009.12:130884635:T:A p.(Pro782=) NC_000009.12:130884635:T:A Identity +NM_001185015.2:c.336T>G NP_001171944.1:p.Val112= NC_000002.12:230213025:A:C p.(Val112=) NC_000002.12:230213025:A:C p.(Val112=) NC_000002.12:230213025:A:C Identity +NM_020750.3:c.234G>C NP_065801.1:p.Arg78= NC_000006.12:43572571:C:G p.(Arg78=) NC_000006.12:43572571:C:G p.(Arg78=) NC_000006.12:43572571:C:G Identity +NM_001692.4:c.615G>A NP_001683.2:p.Gly205= NC_000002.12:70960949:G:A p.(Gly205=) NC_000002.12:70960949:G:A p.(Gly205=) NC_000002.12:70960949:G:A Identity +NM_025074.7:c.10638C>G NP_079350.5:p.Ala3546= NC_000004.12:78521619:C:G p.(Ala3546=) NC_000004.12:78521619:C:G p.(Ala3546=) NC_000004.12:78521619:C:G Identity +NM_024529.5:c.1479T>C NP_078805.3:p.Asp493= NC_000001.11:193249790:T:C p.(Asp493=) NC_000001.11:193249790:T:C p.(Asp493=) NC_000001.11:193249790:T:C Identity +NM_001130066.2:c.3408C>T NP_001123538.1:p.Ala1136= NC_000006.12:33444484:C:T p.(Ala1136=) NC_000006.12:33444484:C:T p.(Ala1136=) NC_000006.12:33444484:C:T Identity +NM_018190.4:c.237G>A NP_060660.2:p.Gln79= NC_000004.12:121861607:C:T p.(Gln79=) NC_000004.12:121861607:C:T p.(Gln79=) NC_000004.12:121861607:C:T Identity +NM_212550.5:c.378C>A NP_997715.1:p.Ala126= NC_000019.10:45179673:C:A p.(Ala126=) NC_000019.10:45179673:C:A p.(Ala126=) NC_000019.10:45179673:C:A Identity +NM_014727.3:c.4197C>T NP_055542.1:p.Pro1399= NC_000019.10:35727516:C:T p.(Pro1399=) NC_000019.10:35727516:C:T p.(Pro1399=) NC_000019.10:35727516:C:T Identity +NM_001166588.3:c.351T>C NP_001160060.1:p.Val117= NC_000001.11:44941608:A:G p.(Val117=) NC_000001.11:44941608:A:G p.(Val117=) NC_000001.11:44941608:A:G Identity +NM_000190.4:c.1062A>C NP_000181.2:p.Ala354= NC_000011.10:119093258:A:C p.(Ala354=) NC_000011.10:119093258:A:C p.(Ala354=) NC_000011.10:119093258:A:C Identity +NM_000228.3:c.2059A>C NP_000219.2:p.Arg687= NC_000001.11:209623917:T:G p.(Arg687=) NC_000001.11:209623917:T:G p.(Arg687=) NC_000001.11:209623917:T:G Identity +NM_001351273.1:c.6267C>T NP_001338202.1:p.Ala2089= NC_000019.10:1469570:C:T p.(Ala2089=) NC_000019.10:1469570:C:T p.(Ala2089=) NC_000019.10:1469570:C:T Identity +NM_000035.4:c.1089C>G NP_000026.2:p.Thr363= NC_000009.12:101421814:G:C p.(Thr363=) NC_000009.12:101421814:G:C p.(Thr363=) NC_000009.12:101421814:G:C Identity +NM_001173479.2:c.555C>T NP_001166950.1:p.Phe185= NC_000023.11:63678419:G:A p.(Phe185=) NC_000023.11:63678419:G:A p.(Phe185=) NC_000023.11:63678419:G:A Identity +NM_001113378.2:c.3195G>A NP_001106849.1:p.Glu1065= NC_000015.10:89305348:G:A p.(Glu1065=) NC_000015.10:89305348:G:A p.(Glu1065=) NC_000015.10:89305348:G:A Identity +NM_001194998.2:c.564A>G NP_001181927.1:p.Glu188= NC_000015.10:48796136:T:C p.(Glu188=) NC_000015.10:48796136:T:C p.(Glu188=) NC_000015.10:48796136:T:C Identity +NM_000080.4:c.1143G>C NP_000071.1:p.Ala381= NC_000017.11:4899273:C:G p.(Ala381=) NC_000017.11:4899273:C:G p.(Ala381=) NC_000017.11:4899273:C:G Identity +NM_014704.4:c.2344A>C NP_055519.1:p.Arg782= NC_000001.11:3825777:T:G p.(Arg782=) NC_000001.11:3825777:T:G p.(Arg782=) NC_000001.11:3825777:T:G Identity +NM_207361.6:c.4704G>A NP_997244.4:p.Leu1568= NC_000013.11:38692047:G:A p.(Leu1568=) NC_000013.11:38692047:G:A p.(Leu1568=) NC_000013.11:38692047:G:A Identity +NM_024408.4:c.4959C>T NP_077719.2:p.His1653= NC_000001.11:119922678:G:A p.(His1653=) NC_000001.11:119922678:G:A p.(His1653=) NC_000001.11:119922678:G:A Identity +NM_001393363.1:c.330G>A NP_001380292.1:p.Gly110= NC_000003.12:33114406:G:A p.(Gly110=) NC_000003.12:33114406:G:A p.(Gly110=) NC_000003.12:33114406:G:A Identity +NM_001306079.2:c.3388C>T NP_001293008.1:p.Leu1130= NC_000002.12:27234184:C:T p.(Leu1130=) NC_000002.12:27234184:C:T p.(Leu1130=) NC_000002.12:27234184:C:T Identity +NM_000540.3:c.3342G>A NP_000531.2:p.Leu1114= NC_000019.10:38467772:G:A p.(Leu1114=) NC_000019.10:38467772:G:A p.(Leu1114=) NC_000019.10:38467772:G:A Identity +NM_001126131.2:c.381G>A NP_001119603.1:p.Leu127= NC_000015.10:89333373:C:T p.(Leu127=) NC_000015.10:89333373:C:T p.(Leu127=) NC_000015.10:89333373:C:T Identity +NM_003742.4:c.3880del NP_003733.2:p.Val1293_Val1294insTer NC_000002.12:168923707:CC:C p.(Val1294Ter) NC_000002.12:168923707:CC:C p.(Val1294Ter) NC_000002.12:168923707:C: Analogous +NM_000487.6:c.18G>A NP_000478.3:p.Pro6= NC_000022.11:50627761:C:T p.(Pro6=) NC_000022.11:50627761:C:T p.(Pro6=) NC_000022.11:50627761:C:T Identity +NM_001002019.3:c.1092C>T NP_001002019.1:p.Ser364= NC_000012.12:131941922:C:T p.(Ser364=) NC_000012.12:131941922:C:T p.(Ser364=) NC_000012.12:131941922:C:T Identity +NM_001281737.2:c.402C>T NP_001268666.1:p.Ser134= NC_000004.12:158685155:C:T p.(Ser134=) NC_000004.12:158685155:C:T p.(Ser134=) NC_000004.12:158685155:C:T Identity +NM_001080463.2:c.2652A>G NP_001073932.1:p.Lys884= NC_000011.10:103143344:A:G p.(Lys884=) NC_000011.10:103143344:A:G p.(Lys884=) NC_000011.10:103143344:A:G Identity +NM_001410831.1:c.145T>C NP_001397760.1:p.Leu49= NC_000020.11:25425279:T:C p.(Leu49=) NC_000020.11:25425279:T:C p.(Leu49=) NC_000020.11:25425279:T:C Identity +NM_000308.4:c.387A>C NP_000299.3:p.Pro129= NC_000020.11:45892426:A:C p.(Pro129=) NC_000020.11:45892426:A:C p.(Pro129=) NC_000020.11:45892426:A:C Identity +NM_206933.4:c.12063G>A NP_996816.3:p.Val4021= NC_000001.11:215728032:C:T p.(Val4021=) NC_000001.11:215728032:C:T p.(Val4021=) NC_000001.11:215728032:C:T Identity +NM_000260.4:c.1080G>A NP_000251.3:p.Glu360= NC_000011.10:77159522:G:A p.(Glu360=) NC_000011.10:77159522:G:A p.(Glu360=) NC_000011.10:77159522:G:A Identity +NM_001145770.3:c.1014G>A NP_001139242.1:p.Gln338= NC_000016.10:57655988:G:A p.(Gln338=) NC_000016.10:57655988:G:A p.(Gln338=) NC_000016.10:57655988:G:A Identity +NM_001367624.2:c.8403T>A NP_001354553.1:p.Gly2801= NC_000016.10:88435872:T:A p.(Gly2801=) NC_000016.10:88435872:T:A p.(Gly2801=) NC_000016.10:88435872:T:A Identity +NM_001318785.2:c.27C>T NP_001305714.1:p.Gly9= NC_000006.12:87541977:G:A p.(Gly9=) NC_000006.12:87541977:G:A p.(Gly9=) NC_000006.12:87541977:G:A Identity +NM_002838.5:c.1915T>C NP_002829.3:p.Leu639= NC_000001.11:198731666:T:C p.(Leu639=) NC_000001.11:198731666:T:C p.(Leu639=) NC_000001.11:198731666:T:C Identity +NM_001075098.4:c.21C>G NP_001068566.1:p.Ser7= NC_000006.12:39934396:G:C p.(Ser7=) NC_000006.12:39934396:G:C p.(Ser7=) NC_000006.12:39934396:G:C Identity +NM_000548.5:c.3117G>T NP_000539.2:p.Thr1039= NC_000016.10:2079181:G:T p.(Thr1039=) NC_000016.10:2079181:G:T p.(Thr1039=) NC_000016.10:2079181:G:T Identity +NM_000254.3:c.225T>G NP_000245.2:p.Pro75= NC_000001.11:236803617:T:G p.(Pro75=) NC_000001.11:236803617:T:G p.(Pro75=) NC_000001.11:236803617:T:G Identity +NM_001242385.2:c.639C>T NP_001229314.1:p.Cys213= NC_000006.12:10803743:G:A p.(Cys213=) NC_000006.12:10803743:G:A p.(Cys213=) NC_000006.12:10803743:G:A Identity +NM_001318381.2:c.1395A>G NP_001305310.1:p.Lys465= NC_000009.12:100272974:A:G p.(Lys465=) NC_000009.12:100272974:A:G p.(Lys465=) NC_000009.12:100272974:A:G Identity +NM_000090.4:c.3852A>T NP_000081.2:p.Gly1284= NC_000002.12:189010205:A:T p.(Gly1284=) NC_000002.12:189010205:A:T p.(Gly1284=) NC_000002.12:189010205:A:T Identity +NM_001098.3:c.2202T>C NP_001089.1:p.Pro734= NC_000022.11:41528015:T:C p.(Pro734=) NC_000022.11:41528015:T:C p.(Pro734=) NC_000022.11:41528015:T:C Identity +NM_032119.4:c.8766G>T NP_115495.3:p.Val2922= NC_000005.10:90708850:G:T p.(Val2922=) NC_000005.10:90708850:G:T p.(Val2922=) NC_000005.10:90708850:G:T Identity +NM_001999.4:c.1452C>T NP_001990.2:p.Ile484= NC_000005.10:128393147:G:A p.(Ile484=) NC_000005.10:128393147:G:A p.(Ile484=) NC_000005.10:128393147:G:A Identity +NM_174916.3:c.4875C>T NP_777576.1:p.Val1625= NC_000015.10:42952408:G:A p.(Val1625=) NC_000015.10:42952408:G:A p.(Val1625=) NC_000015.10:42952408:G:A Identity +NM_001145853.1:c.2394C>T NP_001139325.1:p.Val798= NC_000004.12:6302188:C:T p.(Val798=) NC_000004.12:6302188:C:T p.(Val798=) NC_000004.12:6302188:C:T Identity +NM_001365999.1:c.9105G>A NP_001352928.1:p.Lys3035= NC_000001.11:43446986:G:A p.(Lys3035=) NC_000001.11:43446986:G:A p.(Lys3035=) NC_000001.11:43446986:G:A Identity +NM_001374425.1:c.183C>A NP_001361354.1:p.Thr61= NC_000001.11:2410380:G:T p.(Thr61=) NC_000001.11:2410380:G:T p.(Thr61=) NC_000001.11:2410380:G:T Identity +NM_001004426.3:c.666C>A NP_001004426.1:p.Thr222= NC_000022.11:38140112:G:T p.(Thr222=) NC_000022.11:38140112:G:T p.(Thr222=) NC_000022.11:38140112:G:T Identity +NM_002473.6:c.84C>T NP_002464.1:p.Ala28= NC_000022.11:36349152:G:A p.(Ala28=) NC_000022.11:36349152:G:A p.(Ala28=) NC_000022.11:36349152:G:A Identity +NM_001256468.2:c.3516GGA[2] NP_001243397.1:p.Glu1183_Glu1185del NC_000010.11:75028886:GAGGAGGAGGAGGAGGA:GAGGAGGA p.(Glu1183_Glu1185del) NC_000010.11:75028888:G:GGAGGA ERR:Parse ERR:Parse Identity +NM_001278666.2:c.48G>A NP_001265595.1:p.Gly16= NC_000006.12:57210332:C:T p.(Gly16=) NC_000006.12:57210332:C:T p.(Gly16=) NC_000006.12:57210332:C:T Identity +NM_002185.5:c.762T>A NP_002176.2:p.Ala254= NC_000005.10:35874503:T:A p.(Ala254=) NC_000005.10:35874503:T:A p.(Ala254=) NC_000005.10:35874503:T:A Identity +NM_001164507.2:c.1182A>T NP_001157979.2:p.Thr394= NC_000002.12:151697618:T:A p.(Thr394=) NC_000002.12:151697618:T:A p.(Thr394=) NC_000002.12:151697618:T:A Identity +NM_021939.4:c.1728G>A NP_068758.3:p.Glu576= NC_000017.11:41822386:G:A p.(Glu576=) NC_000017.11:41822386:G:A p.(Glu576=) NC_000017.11:41822386:G:A Identity +NM_000353.3:c.1098C>A NP_000344.1:p.Val366= NC_000016.10:71569880:G:T p.(Val366=) NC_000016.10:71569880:G:T p.(Val366=) NC_000016.10:71569880:G:T Identity +NM_001293273.2:c.1383T>C NP_001280202.1:p.Ile461= NC_000003.12:183022551:A:G p.(Ile461=) NC_000003.12:183022551:A:G p.(Ile461=) NC_000003.12:183022551:A:G Identity +NM_001411101.1:c.27G>A NP_001398030.1:p.Ala9= NC_000017.11:82752219:G:A p.(Ala9=) NC_000017.11:82752219:G:A p.(Ala9=) NC_000017.11:82752219:G:A Identity +NM_001174089.2:c.2337C>T NP_001167560.1:p.Ser779= NC_000020.11:3228562:G:A p.(Ser779=) NC_000020.11:3228562:G:A p.(Ser779=) NC_000020.11:3228562:G:A Identity +NM_001308164.2:c.1473G>A NP_001295093.1:p.Arg491= NC_000003.12:158665371:G:A p.(Arg491=) NC_000003.12:158665371:G:A p.(Arg491=) NC_000003.12:158665371:G:A Identity +NM_001166133.2:c.4807C>A NP_001159605.1:p.Arg1603= NC_000004.12:78429189:C:A p.(Arg1603=) NC_000004.12:78429189:C:A p.(Arg1603=) NC_000004.12:78429189:C:A Identity +NM_018368.4:c.6G>T NP_060838.3:p.Ala2= NC_000006.12:69796875:C:A p.(Ala2=) NC_000006.12:69796875:C:A p.(Ala2=) NC_000006.12:69796875:C:A Identity +NM_001349896.1:c.1635T>C NP_001336825.1:p.Thr545= NC_000022.11:26463994:A:G p.(Thr545=) NC_000022.11:26463994:A:G p.(Thr545=) NC_000022.11:26463994:A:G Identity +NM_016239.4:c.6828G>A NP_057323.3:p.Glu2276= NC_000017.11:18148823:G:A p.(Glu2276=) NC_000017.11:18148823:G:A p.(Glu2276=) NC_000017.11:18148823:G:A Identity +NM_001410772.1:c.783A>G NP_001397701.1:p.Ser261= NC_000003.12:52405858:T:C p.(Ser261=) NC_000003.12:52405858:T:C p.(Ser261=) NC_000003.12:52405858:T:C Identity +NM_001136052.3:c.312C>T NP_001129524.1:p.Val104= NC_000019.10:49700713:C:T p.(Val104=) NC_000019.10:49700713:C:T p.(Val104=) NC_000019.10:49700713:C:T Identity +NM_001843.4:c.2016C>T NP_001834.2:p.Ile672= NC_000012.12:40993171:C:T p.(Ile672=) NC_000012.12:40993171:C:T p.(Ile672=) NC_000012.12:40993171:C:T Identity +NM_001379141.1:c.2139T>C NP_001366070.1:p.Ile713= NC_000018.10:44951478:T:C p.(Ile713=) NC_000018.10:44951478:T:C p.(Ile713=) NC_000018.10:44951478:T:C Identity +NM_001018037.2:c.5121G>A NP_001018047.1:p.Leu1707= NC_000009.12:77318515:G:A p.(Leu1707=) NC_000009.12:77318515:G:A p.(Leu1707=) NC_000009.12:77318515:G:A Identity +NM_145290.4:c.1635T>C NP_660333.2:p.Tyr545= NC_000004.12:22421059:A:G p.(Tyr545=) NC_000004.12:22421059:A:G p.(Tyr545=) NC_000004.12:22421059:A:G Identity +NM_001171653.2:c.1191A>C NP_001165124.1:p.Gly397= NC_000002.12:144399923:T:G p.(Gly397=) NC_000002.12:144399923:T:G p.(Gly397=) NC_000002.12:144399923:T:G Identity +NM_001164674.2:c.498A>G NP_001158146.1:p.Pro166= NC_000003.12:4420092:T:C p.(Pro166=) NC_000003.12:4420092:T:C p.(Pro166=) NC_000003.12:4420092:T:C Identity +NM_001378454.1:c.6957A>G NP_001365383.1:p.Arg2319= NC_000002.12:73453483:A:G p.(Arg2319=) NC_000002.12:73453483:A:G p.(Arg2319=) NC_000002.12:73453483:A:G Identity +NM_017890.5:c.7758G>A NP_060360.3:p.Lys2586= NC_000008.11:99778934:G:A p.(Lys2586=) NC_000008.11:99778934:G:A p.(Lys2586=) NC_000008.11:99778934:G:A Identity +NM_001410805.1:c.486C>T NP_001397734.1:p.Ile162= NC_000003.12:128901321:C:T p.(Ile162=) NC_000003.12:128901321:C:T p.(Ile162=) NC_000003.12:128901321:C:T Identity +NM_006397.3:c.276G>C NP_006388.2:p.Ala92= NC_000019.10:12807281:G:C p.(Ala92=) NC_000019.10:12807281:G:C p.(Ala92=) NC_000019.10:12807281:G:C Identity +NM_001378454.1:c.8934C>T NP_001365383.1:p.Asp2978= NC_000002.12:73490892:C:T p.(Asp2978=) NC_000002.12:73490892:C:T p.(Asp2978=) NC_000002.12:73490892:C:T Identity +NM_001142763.2:c.4941G>A NP_001136235.1:p.Arg1647= NC_000010.11:53822805:C:T p.(Arg1647=) NC_000010.11:53822805:C:T p.(Arg1647=) NC_000010.11:53822805:C:T Identity +NM_004204.5:c.396C>T NP_004195.2:p.Asp132= NC_000016.10:574469:C:T p.(Asp132=) NC_000016.10:574469:C:T p.(Asp132=) NC_000016.10:574469:C:T Identity +NM_018129.4:c.144T>C NP_060599.1:p.Phe48= NC_000017.11:47943310:T:C p.(Phe48=) NC_000017.11:47943310:T:C p.(Phe48=) NC_000017.11:47943310:T:C Identity +NM_001350085.2:c.1647A>G NP_001337014.1:p.Leu549= NC_000007.14:93134324:T:C p.(Leu549=) NC_000007.14:93134324:T:C p.(Leu549=) NC_000007.14:93134324:T:C Identity +NM_003235.5:c.3870C>A NP_003226.4:p.Ile1290= NC_000008.11:132908207:C:A p.(Ile1290=) NC_000008.11:132908207:C:A p.(Ile1290=) NC_000008.11:132908207:C:A Identity +NM_001346900.2:c.3198C>T NP_001333829.1:p.Pro1066= NC_000007.14:55205340:C:T p.(Pro1066=) NC_000007.14:55205340:C:T p.(Pro1066=) NC_000007.14:55205340:C:T Identity +NM_000094.4:c.5589C>G NP_000085.1:p.Gly1863= NC_000003.12:48576898:G:C p.(Gly1863=) NC_000003.12:48576898:G:C p.(Gly1863=) NC_000003.12:48576898:G:C Identity +NM_002439.5:c.3214_3218del NP_002430.3:p.Asn1071_Val1072insTer NC_000005.10:80873198:GTGGC: p.(Val1072Ter) NC_000005.10:80873198:GTGGC: p.(Val1072Ter) NC_000005.10:80873198:GTGGC: Analogous +NM_001287489.2:c.3816G>A NP_001274418.1:p.Glu1272= NC_000002.12:26472566:C:T p.(Glu1272=) NC_000002.12:26472566:C:T p.(Glu1272=) NC_000002.12:26472566:C:T Identity +NM_172364.5:c.1974A>G NP_758952.4:p.Glu658= NC_000012.12:1858610:T:C p.(Glu658=) NC_000012.12:1858610:T:C p.(Glu658=) NC_000012.12:1858610:T:C Identity +NM_000253.4:c.2064C>A NP_000244.2:p.Ser688= NC_000004.12:99612986:C:A p.(Ser688=) NC_000004.12:99612986:C:A p.(Ser688=) NC_000004.12:99612986:C:A Identity +NM_001146289.2:c.504C>T NP_001139761.1:p.Thr168= NC_000001.11:42762436:G:A p.(Thr168=) NC_000001.11:42762436:G:A p.(Thr168=) NC_000001.11:42762436:G:A Identity +NM_001080442.3:c.264C>T NP_001073911.1:p.Tyr88= NC_000016.10:84036825:G:A p.(Tyr88=) NC_000016.10:84036825:G:A p.(Tyr88=) NC_000016.10:84036825:G:A Identity +NM_003235.5:c.7860C>G NP_003226.4:p.Gly2620= NC_000008.11:133116713:C:G p.(Gly2620=) NC_000008.11:133116713:C:G p.(Gly2620=) NC_000008.11:133116713:C:G Identity +NM_001126105.3:c.1089C>G NP_001119577.1:p.Leu363= NC_000014.9:22775449:G:C p.(Leu363=) NC_000014.9:22775449:G:C p.(Leu363=) NC_000014.9:22775449:G:C Identity +NM_001098268.2:c.1857T>G NP_001091738.1:p.Gly619= NC_000013.11:108209411:A:C p.(Gly619=) NC_000013.11:108209411:A:C p.(Gly619=) NC_000013.11:108209411:A:C Identity +NM_000392.5:c.4530G>A NP_000383.2:p.Gly1510= NC_000010.11:99851522:G:A p.(Gly1510=) NC_000010.11:99851522:G:A p.(Gly1510=) NC_000010.11:99851522:G:A Identity +NM_002133.3:c.726C>T NP_002124.1:p.Asn242= NC_000022.11:35389952:C:T p.(Asn242=) NC_000022.11:35389952:C:T p.(Asn242=) NC_000022.11:35389952:C:T Identity +NM_032119.4:c.13764A>G NP_115495.3:p.Gly4588= NC_000005.10:90788180:A:G p.(Gly4588=) NC_000005.10:90788180:A:G p.(Gly4588=) NC_000005.10:90788180:A:G Identity +NM_001363729.2:c.465T>C NP_001350658.1:p.Tyr155= NC_000020.11:36935072:A:G p.(Tyr155=) NC_000020.11:36935072:A:G p.(Tyr155=) NC_000020.11:36935072:A:G Identity +NM_001178074.2:c.1171C>T NP_001171545.1:p.Leu391= NC_000012.12:66455435:G:A p.(Leu391=) NC_000012.12:66455435:G:A p.(Leu391=) NC_000012.12:66455435:G:A Identity +NM_015180.6:c.1881T>A NP_055995.4:p.Thr627= NC_000014.9:63982673:T:A p.(Thr627=) NC_000014.9:63982673:T:A p.(Thr627=) NC_000014.9:63982673:T:A Identity +NM_001069.3:c.18C>T NP_001060.1:p.His6= NC_000006.12:3157445:G:A p.(His6=) NC_000006.12:3157445:G:A p.(His6=) NC_000006.12:3157445:G:A Identity +NM_001376.5:c.8448G>A NP_001367.2:p.Leu2816= NC_000014.9:102019996:G:A p.(Leu2816=) NC_000014.9:102019996:G:A p.(Leu2816=) NC_000014.9:102019996:G:A Identity +NM_001287489.2:c.570G>A NP_001274418.1:p.Glu190= NC_000002.12:26503784:C:T p.(Glu190=) NC_000002.12:26503784:C:T p.(Glu190=) NC_000002.12:26503784:C:T Identity +NM_000371.4:c.198T>G NP_000362.1:p.Ser66= NC_000018.10:31593023:T:G p.(Ser66=) NC_000018.10:31593023:T:G p.(Ser66=) NC_000018.10:31593023:T:G Identity +NM_183415.3:c.3006G>A NP_904324.1:p.Ser1002= NC_000012.12:109533548:G:A p.(Ser1002=) NC_000012.12:109533548:G:A p.(Ser1002=) NC_000012.12:109533548:G:A Identity +NM_000135.4:c.3633C>G NP_000126.2:p.Leu1211= NC_000016.10:89742931:G:C p.(Leu1211=) NC_000016.10:89742931:G:C p.(Leu1211=) NC_000016.10:89742931:G:C Identity +NM_002470.4:c.3816C>T NP_002461.2:p.Ser1272= NC_000017.11:10637848:G:A p.(Ser1272=) NC_000017.11:10637848:G:A p.(Ser1272=) NC_000017.11:10637848:G:A Identity +NM_001194998.2:c.1710C>T NP_001181927.1:p.Asp570= NC_000015.10:48772558:G:A p.(Asp570=) NC_000015.10:48772558:G:A p.(Asp570=) NC_000015.10:48772558:G:A Identity +NM_001042702.5:c.846C>A NP_001036167.1:p.Leu282= NC_000002.12:178461060:C:A p.(Leu282=) NC_000002.12:178461060:C:A p.(Leu282=) NC_000002.12:178461060:C:A Identity +NM_001321193.3:c.354C>T NP_001308122.1:p.Ala118= NC_000003.12:177051576:G:A p.(Ala118=) NC_000003.12:177051576:G:A p.(Ala118=) NC_000003.12:177051576:G:A Identity +NM_001321309.2:c.1287T>C NP_001308238.1:p.Ser429= NC_000003.12:123709882:A:G p.(Ser429=) NC_000003.12:123709882:A:G p.(Ser429=) NC_000003.12:123709882:A:G Identity +NM_001242581.2:c.1746G>A NP_001229510.1:p.Val582= NC_000020.11:19975623:G:A p.(Val582=) NC_000020.11:19975623:G:A p.(Val582=) NC_000020.11:19975623:G:A Identity +NM_001098426.2:c.462A>T NP_001091896.1:p.Pro154= NC_000017.11:63837026:T:A p.(Pro154=) NC_000017.11:63837026:T:A p.(Pro154=) NC_000017.11:63837026:T:A Identity +NM_001146039.2:c.201A>C NP_001139511.2:p.Ser67= NC_000001.11:170539348:A:C p.(Ser67=) NC_000001.11:170539348:A:C p.(Ser67=) NC_000001.11:170539348:A:C Identity +NM_001279353.2:c.1161C>A NP_001266282.1:p.Pro387= NC_000001.11:150093630:C:A p.(Pro387=) NC_000001.11:150093630:C:A p.(Pro387=) NC_000001.11:150093630:C:A Identity +NM_012079.6:c.612C>T NP_036211.2:p.Leu204= NC_000008.11:144318324:G:A p.(Leu204=) NC_000008.11:144318324:G:A p.(Leu204=) NC_000008.11:144318324:G:A Identity +NM_001039476.3:c.495G>T NP_001034565.1:p.Leu165= NC_000016.10:92724:C:A p.(Leu165=) NC_000016.10:92724:C:A p.(Leu165=) NC_000016.10:92724:C:A Identity +NM_000271.5:c.597A>G NP_000262.2:p.Gly199= NC_000018.10:23561393:T:C p.(Gly199=) NC_000018.10:23561393:T:C p.(Gly199=) NC_000018.10:23561393:T:C Identity +NM_001035.3:c.2301G>C NP_001026.2:p.Ser767= NC_000001.11:237500807:G:C p.(Ser767=) NC_000001.11:237500807:G:C p.(Ser767=) NC_000001.11:237500807:G:C Identity +NM_004501.3:c.1869C>G NP_004492.2:p.Leu623= NC_000001.11:244856144:G:C p.(Leu623=) NC_000001.11:244856144:G:C p.(Leu623=) NC_000001.11:244856144:G:C Identity +NM_001410705.1:c.2256C>A NP_001397634.1:p.Gly752= NC_000023.11:153957410:G:T p.(Gly752=) NC_000023.11:153957410:G:T p.(Gly752=) NC_000023.11:153957410:G:T Identity +NM_021942.6:c.540C>T NP_068761.4:p.His180= NC_000004.12:183668096:C:T p.(His180=) NC_000004.12:183668096:C:T p.(His180=) NC_000004.12:183668096:C:T Identity +NM_001142800.2:c.1809C>G NP_001136272.1:p.Val603= NC_000006.12:65296076:G:C p.(Val603=) NC_000006.12:65296076:G:C p.(Val603=) NC_000006.12:65296076:G:C Identity +NM_001244580.2:c.4335G>C NP_001231509.1:p.Val1445= NC_000007.14:98937750:G:C p.(Val1445=) NC_000007.14:98937750:G:C p.(Val1445=) NC_000007.14:98937750:G:C Identity +NM_001291593.2:c.2553G>C NP_001278522.1:p.Leu851= NC_000001.11:5863937:C:G p.(Leu851=) NC_000001.11:5863937:C:G p.(Leu851=) NC_000001.11:5863937:C:G Identity +NM_138694.4:c.8589T>C NP_619639.3:p.Tyr2863= NC_000006.12:51772754:A:G p.(Tyr2863=) NC_000006.12:51772754:A:G p.(Tyr2863=) NC_000006.12:51772754:A:G Identity +NM_005876.5:c.294C>T NP_005867.3:p.Cys98= NC_000002.12:219435270:C:T p.(Cys98=) NC_000002.12:219435270:C:T p.(Cys98=) NC_000002.12:219435270:C:T Identity +NM_001379334.1:c.2292G>A NP_001366263.1:p.Lys764= NC_000016.10:10907852:G:A p.(Lys764=) NC_000016.10:10907852:G:A p.(Lys764=) NC_000016.10:10907852:G:A Identity +NM_001178007.2:c.1020A>T NP_001171478.1:p.Val340= NC_000004.12:122742911:A:T p.(Val340=) NC_000004.12:122742911:A:T p.(Val340=) NC_000004.12:122742911:A:T Identity +NM_001077653.2:c.362TCA[3] NP_001071121.1:p.Ile122_Thr123insIle NC_000007.14:35249963:TGATGAT:TGATGATGAT p.(Ile122dup) NC_000007.14:35249968:A:TGATGATGA ERR:Parse ERR:Parse Analogous +NM_001173466.2:c.396G>C NP_001166937.1:p.Leu132= NC_000012.12:53315337:C:G p.(Leu132=) NC_000012.12:53315337:C:G p.(Leu132=) NC_000012.12:53315337:C:G Identity +NM_001845.6:c.2916G>T NP_001836.3:p.Gly972= NC_000013.11:110176677:C:A p.(Gly972=) NC_000013.11:110176677:C:A p.(Gly972=) NC_000013.11:110176677:C:A Identity +NM_001089.3:c.3495G>A NP_001080.2:p.Lys1165= NC_000016.10:2284986:C:T p.(Lys1165=) NC_000016.10:2284986:C:T p.(Lys1165=) NC_000016.10:2284986:C:T Identity +NM_000400.4:c.1404C>G NP_000391.1:p.Pro468= NC_000019.10:45357344:G:C p.(Pro468=) NC_000019.10:45357344:G:C p.(Pro468=) NC_000019.10:45357344:G:C Identity +NM_000494.4:c.585T>C NP_000485.3:p.Ile195= NC_000010.11:104070447:A:G p.(Ile195=) NC_000010.11:104070447:A:G p.(Ile195=) NC_000010.11:104070447:A:G Identity +NM_000540.3:c.3078G>T NP_000531.2:p.Leu1026= NC_000019.10:38466297:G:T p.(Leu1026=) NC_000019.10:38466297:G:T p.(Leu1026=) NC_000019.10:38466297:G:T Identity +NM_001160227.2:c.5403C>A NP_001153699.1:p.Ile1801= NC_000015.10:44584276:G:T p.(Ile1801=) NC_000015.10:44584276:G:T p.(Ile1801=) NC_000015.10:44584276:G:T Identity +NM_002547.3:c.1323C>T NP_002538.1:p.Asp441= NC_000023.11:68119285:G:A p.(Asp441=) NC_000023.11:68119285:G:A p.(Asp441=) NC_000023.11:68119285:G:A Identity +NM_000264.5:c.229C>T NP_000255.2:p.Leu77= NC_000009.12:95506571:G:A p.(Leu77=) NC_000009.12:95506571:G:A p.(Leu77=) NC_000009.12:95506571:G:A Identity +NM_015657.4:c.3447A>C NP_056472.2:p.Gly1149= NC_000002.12:214982364:T:G p.(Gly1149=) NC_000002.12:214982364:T:G p.(Gly1149=) NC_000002.12:214982364:T:G Identity +NM_001363746.1:c.66C>A NP_001350675.1:p.Gly22= NC_000009.12:136200733:G:T p.(Gly22=) NC_000009.12:136200733:G:T p.(Gly22=) NC_000009.12:136200733:G:T Identity +NM_001377456.1:c.1416T>C NP_001364385.1:p.Phe472= NC_000016.10:56499888:A:G p.(Phe472=) NC_000016.10:56499888:A:G p.(Phe472=) NC_000016.10:56499888:A:G Identity +NM_002156.5:c.924T>C NP_002147.2:p.Asn308= NC_000002.12:197490241:A:G p.(Asn308=) NC_000002.12:197490241:A:G p.(Asn308=) NC_000002.12:197490241:A:G Identity +NM_001290307.3:c.990T>G NP_001277236.1:p.Arg330= NC_000005.10:138827645:T:G p.(Arg330=) NC_000005.10:138827645:T:G p.(Arg330=) NC_000005.10:138827645:T:G Identity +NM_005609.4:c.297C>T NP_005600.1:p.Thr99= NC_000011.10:64758650:G:A p.(Thr99=) NC_000011.10:64758650:G:A p.(Thr99=) NC_000011.10:64758650:G:A Identity +NM_016097.5:c.27G>A NP_057181.1:p.Leu9= NC_000018.10:47176250:C:T p.(Leu9=) NC_000018.10:47176250:C:T p.(Leu9=) NC_000018.10:47176250:C:T Identity +NM_000246.4:c.3177G>T NP_000237.2:p.Val1059= NC_000016.10:10922193:G:T p.(Val1059=) NC_000016.10:10922193:G:T p.(Val1059=) NC_000016.10:10922193:G:T Identity +NM_007123.6:c.2142G>A NP_009054.6:p.Gln714= NC_000001.11:216250927:C:T p.(Gln714=) NC_000001.11:216250927:C:T p.(Gln714=) NC_000001.11:216250927:C:T Identity +NM_001304482.2:c.1605G>C NP_001291411.1:p.Ser535= NC_000003.12:47409687:G:C p.(Ser535=) NC_000003.12:47409687:G:C p.(Ser535=) NC_000003.12:47409687:G:C Identity +NM_000637.5:c.702C>T NP_000628.2:p.Ser234= NC_000008.11:30696472:G:A p.(Ser234=) NC_000008.11:30696472:G:A p.(Ser234=) NC_000008.11:30696472:G:A Identity +NM_001852.4:c.39T>C NP_001843.1:p.Val13= NC_000001.11:40317158:A:G p.(Val13=) NC_000001.11:40317158:A:G p.(Val13=) NC_000001.11:40317158:A:G Identity +NM_001320412.2:c.471C>T NP_001307341.1:p.Asp157= NC_000021.9:46151722:G:A p.(Asp157=) NC_000021.9:46151722:G:A p.(Asp157=) NC_000021.9:46151722:G:A Identity +NM_000902.5:c.1452T>C NP_000893.2:p.Asp484= NC_000003.12:155147178:T:C p.(Asp484=) NC_000003.12:155147178:T:C p.(Asp484=) NC_000003.12:155147178:T:C Identity +NM_001378454.1:c.5232A>G NP_001365383.1:p.Pro1744= NC_000002.12:73451758:A:G p.(Pro1744=) NC_000002.12:73451758:A:G p.(Pro1744=) NC_000002.12:73451758:A:G Identity +NM_005157.6:c.2140C>T NP_005148.2:p.Leu714= NC_000009.12:130884429:C:T p.(Leu714=) NC_000009.12:130884429:C:T p.(Leu714=) NC_000009.12:130884429:C:T Identity +NM_001034116.2:c.504T>C NP_001029288.1:p.Pro168= NC_000002.12:27368457:A:G p.(Pro168=) NC_000002.12:27368457:A:G p.(Pro168=) NC_000002.12:27368457:A:G Identity +NM_000466.3:c.2895G>A NP_000457.1:p.Leu965= NC_000007.14:92494517:C:T p.(Leu965=) NC_000007.14:92494517:C:T p.(Leu965=) NC_000007.14:92494517:C:T Identity +NM_012213.3:c.1107C>T NP_036345.2:p.Gly369= NC_000016.10:83915113:C:T p.(Gly369=) NC_000016.10:83915113:C:T p.(Gly369=) NC_000016.10:83915113:C:T Identity +NM_000178.4:c.1344A>T NP_000169.1:p.Leu448= NC_000020.11:34928908:T:A p.(Leu448=) NC_000020.11:34928908:T:A p.(Leu448=) NC_000020.11:34928908:T:A Identity +NM_001166133.2:c.4545C>T NP_001159605.1:p.Ile1515= NC_000004.12:78421866:C:T p.(Ile1515=) NC_000004.12:78421866:C:T p.(Ile1515=) NC_000004.12:78421866:C:T Identity +NM_001411068.1:c.849G>A NP_001397997.1:p.Lys283= NC_000015.10:68208322:C:T p.(Lys283=) NC_000015.10:68208322:C:T p.(Lys283=) NC_000015.10:68208322:C:T Identity +NM_003647.3:c.1452G>A NP_003638.1:p.Gly484= NC_000017.11:56862178:G:A p.(Gly484=) NC_000017.11:56862178:G:A p.(Gly484=) NC_000017.11:56862178:G:A Identity +NM_001410705.1:c.1659C>A NP_001397634.1:p.Ala553= NC_000023.11:153958712:G:T p.(Ala553=) NC_000023.11:153958712:G:T p.(Ala553=) NC_000023.11:153958712:G:T Identity +NM_013339.4:c.1188A>G NP_037471.2:p.Ala396= NC_000001.11:63428987:A:G p.(Ala396=) NC_000001.11:63428987:A:G p.(Ala396=) NC_000001.11:63428987:A:G Identity +NM_004268.5:c.1494A>C NP_004259.3:p.Gly498= NC_000011.10:93807544:A:C p.(Gly498=) NC_000011.10:93807544:A:C p.(Gly498=) NC_000011.10:93807544:A:C Identity +NM_000094.4:c.4956A>C NP_000085.1:p.Gly1652= NC_000003.12:48580905:T:G p.(Gly1652=) NC_000003.12:48580905:T:G p.(Gly1652=) NC_000003.12:48580905:T:G Identity +NM_001358921.2:c.201G>T NP_001345850.1:p.Ala67= NC_000004.12:83284563:C:A p.(Ala67=) NC_000004.12:83284563:C:A p.(Ala67=) NC_000004.12:83284563:C:A Identity +NM_000361.3:c.1386C>T NP_000352.1:p.Phe462= NC_000020.11:23048118:G:A p.(Phe462=) NC_000020.11:23048118:G:A p.(Phe462=) NC_000020.11:23048118:G:A Identity +NM_000057.4:c.2472T>A NP_000048.1:p.Val824= NC_000015.10:90769502:T:A p.(Val824=) NC_000015.10:90769502:T:A p.(Val824=) NC_000015.10:90769502:T:A Identity +NM_001204831.3:c.1479C>T NP_001191760.1:p.Gly493= NC_000003.12:43555466:G:A p.(Gly493=) NC_000003.12:43555466:G:A p.(Gly493=) NC_000003.12:43555466:G:A Identity +NM_001160227.2:c.6144G>A NP_001153699.1:p.Arg2048= NC_000015.10:44569499:C:T p.(Arg2048=) NC_000015.10:44569499:C:T p.(Arg2048=) NC_000015.10:44569499:C:T Identity +NM_000449.4:c.1263T>C NP_000440.1:p.Gly421= NC_000001.11:151342773:A:G p.(Gly421=) NC_000001.11:151342773:A:G p.(Gly421=) NC_000001.11:151342773:A:G Identity +NM_001194998.2:c.597G>A NP_001181927.1:p.Gln199= NC_000015.10:48796103:C:T p.(Gln199=) NC_000015.10:48796103:C:T p.(Gln199=) NC_000015.10:48796103:C:T Identity +NM_005732.4:c.834A>G NP_005723.2:p.Arg278= NC_000005.10:132587638:A:G p.(Arg278=) NC_000005.10:132587638:A:G p.(Arg278=) NC_000005.10:132587638:A:G Identity +NM_001128844.3:c.1761G>A NP_001122316.1:p.Lys587= NC_000019.10:10996379:G:A p.(Lys587=) NC_000019.10:10996379:G:A p.(Lys587=) NC_000019.10:10996379:G:A Identity +NM_000275.3:c.924G>A NP_000266.2:p.Leu308= NC_000015.10:28014895:C:T p.(Leu308=) NC_000015.10:28014895:C:T p.(Leu308=) NC_000015.10:28014895:C:T Identity +NM_004813.4:c.703C>T NP_004804.2:p.Leu235= NC_000011.10:45914194:G:A p.(Leu235=) NC_000011.10:45914194:G:A p.(Leu235=) NC_000011.10:45914194:G:A Identity +NM_014141.6:c.1785C>T NP_054860.1:p.Tyr595= NC_000007.14:147562144:C:T p.(Tyr595=) NC_000007.14:147562144:C:T p.(Tyr595=) NC_000007.14:147562144:C:T Identity +NM_001256182.2:c.5940_5941delinsTT NP_001243111.1:p.Leu1980_Leu1981= NC_000016.10:89280600:GC:AA p.(Leu1980_Leu1981=) NC_000016.10:89280600:GC:AA p.(Leu1980=) NC_000016.10:89280600:GC:AA Identity +NM_001031689.3:c.903A>G NP_001026859.1:p.Glu301= NC_000009.12:26923313:T:C p.(Glu301=) NC_000009.12:26923313:T:C p.(Glu301=) NC_000009.12:26923313:T:C Identity +NM_001407296.1:c.957A>G NP_001394225.1:p.Ala319= NC_000016.10:23635528:T:C p.(Ala319=) NC_000016.10:23635528:T:C p.(Ala319=) NC_000016.10:23635528:T:C Identity +NM_000350.3:c.6639C>T NP_000341.2:p.Ser2213= NC_000001.11:93997950:G:A p.(Ser2213=) NC_000001.11:93997950:G:A p.(Ser2213=) NC_000001.11:93997950:G:A Identity +NM_000528.4:c.666T>C NP_000519.2:p.Asp222= NC_000019.10:12663799:A:G p.(Asp222=) NC_000019.10:12663799:A:G p.(Asp222=) NC_000019.10:12663799:A:G Identity +NM_001174116.3:c.2190A>G NP_001167587.1:p.Val730= NC_000015.10:51536289:T:C p.(Val730=) NC_000015.10:51536289:T:C p.(Val730=) NC_000015.10:51536289:T:C Identity +NM_001252043.2:c.1314T>C NP_001238972.1:p.Pro438= NC_000016.10:29983555:T:C p.(Pro438=) NC_000016.10:29983555:T:C p.(Pro438=) NC_000016.10:29983555:T:C Identity +NM_017890.5:c.10735T>C NP_060360.3:p.Leu3579= NC_000008.11:99854048:T:C p.(Leu3579=) NC_000008.11:99854048:T:C p.(Leu3579=) NC_000008.11:99854048:T:C Identity +NM_000289.6:c.708T>C NP_000280.1:p.Asp236= NC_000012.12:48134789:T:C p.(Asp236=) NC_000012.12:48134789:T:C p.(Asp236=) NC_000012.12:48134789:T:C Identity +NM_001329903.2:c.1125A>G NP_001316832.1:p.Pro375= NC_000017.11:1777313:A:G p.(Pro375=) NC_000017.11:1777313:A:G p.(Pro375=) NC_000017.11:1777313:A:G Identity +NM_000030.3:c.1038G>A NP_000021.1:p.Glu346= NC_000002.12:240878116:G:A p.(Glu346=) NC_000002.12:240878116:G:A p.(Glu346=) NC_000002.12:240878116:G:A Identity +NM_001128159.3:c.105C>T NP_001121631.1:p.Asp35= NC_000017.11:710595:G:A p.(Asp35=) NC_000017.11:710595:G:A p.(Asp35=) NC_000017.11:710595:G:A Identity +NM_005732.4:c.2959C>T NP_005723.2:p.Leu987= NC_000005.10:132609318:C:T p.(Leu987=) NC_000005.10:132609318:C:T p.(Leu987=) NC_000005.10:132609318:C:T Identity +NM_014244.5:c.1782C>T NP_055059.2:p.Ala594= NC_000005.10:179137937:G:A p.(Ala594=) NC_000005.10:179137937:G:A p.(Ala594=) NC_000005.10:179137937:G:A Identity +NM_032119.4:c.9357C>T NP_115495.3:p.Phe3119= NC_000005.10:90716638:C:T p.(Phe3119=) NC_000005.10:90716638:C:T p.(Phe3119=) NC_000005.10:90716638:C:T Identity +NM_022124.6:c.4296C>T NP_071407.4:p.Cys1432= NC_000010.11:71738583:C:T p.(Cys1432=) NC_000010.11:71738583:C:T p.(Cys1432=) NC_000010.11:71738583:C:T Identity +NM_006517.5:c.306G>A NP_006508.2:p.Val102= NC_000023.11:74421942:G:A p.(Val102=) NC_000023.11:74421942:G:A p.(Val102=) NC_000023.11:74421942:G:A Identity +NM_001406559.1:c.378G>T NP_001393488.1:p.Arg126= NC_000010.11:86899837:G:T p.(Arg126=) NC_000010.11:86899837:G:T p.(Arg126=) NC_000010.11:86899837:G:T Identity +NM_000540.3:c.10563C>A NP_000531.2:p.Gly3521= NC_000019.10:38525438:C:A p.(Gly3521=) NC_000019.10:38525438:C:A p.(Gly3521=) NC_000019.10:38525438:C:A Identity +NM_207361.6:c.3135T>C NP_997244.4:p.Ile1045= NC_000013.11:38690478:T:C p.(Ile1045=) NC_000013.11:38690478:T:C p.(Ile1045=) NC_000013.11:38690478:T:C Identity +NM_012448.4:c.1449C>G NP_036580.2:p.Leu483= NC_000017.11:42216037:G:C p.(Leu483=) NC_000017.11:42216037:G:C p.(Leu483=) NC_000017.11:42216037:G:C Identity +NM_032119.4:c.17328G>A NP_115495.3:p.Arg5776= NC_000005.10:90853406:G:A p.(Arg5776=) NC_000005.10:90853406:G:A p.(Arg5776=) NC_000005.10:90853406:G:A Identity +NM_000030.3:c.81G>C NP_000021.1:p.Gly27= NC_000002.12:240868945:G:C p.(Gly27=) NC_000002.12:240868945:G:C p.(Gly27=) NC_000002.12:240868945:G:C Identity +NM_001556.3:c.126C>T NP_001547.1:p.Ala42= NC_000008.11:42288653:C:T p.(Ala42=) NC_000008.11:42288653:C:T p.(Ala42=) NC_000008.11:42288653:C:T Identity +NM_022124.6:c.6225T>G NP_071407.4:p.Thr2075= NC_000010.11:71791306:T:G p.(Thr2075=) NC_000010.11:71791306:T:G p.(Thr2075=) NC_000010.11:71791306:T:G Identity +NM_001009999.3:c.60G>A NP_001009999.1:p.Gly20= NC_000001.11:23019655:G:A p.(Gly20=) NC_000001.11:23019655:G:A p.(Gly20=) NC_000001.11:23019655:G:A Identity +NM_138694.4:c.3021T>C NP_619639.3:p.Ser1007= NC_000006.12:52042934:A:G p.(Ser1007=) NC_000006.12:52042934:A:G p.(Ser1007=) NC_000006.12:52042934:A:G Identity +NM_001290307.3:c.1488T>C NP_001277236.1:p.Arg496= NC_000005.10:138917839:T:C p.(Arg496=) NC_000005.10:138917839:T:C p.(Arg496=) NC_000005.10:138917839:T:C Identity +NM_002133.3:c.247C>T NP_002124.1:p.Leu83= NC_000022.11:35386786:C:T p.(Leu83=) NC_000022.11:35386786:C:T p.(Leu83=) NC_000022.11:35386786:C:T Identity +NM_206933.4:c.8037T>C NP_996816.3:p.His2679= NC_000001.11:215888611:A:G p.(His2679=) NC_000001.11:215888611:A:G p.(His2679=) NC_000001.11:215888611:A:G Identity +NM_001278055.2:c.8970T>C NP_001264984.1:p.Asp2990= NC_000013.11:23334464:A:G p.(Asp2990=) NC_000013.11:23334464:A:G p.(Asp2990=) NC_000013.11:23334464:A:G Identity +NM_001378454.1:c.5451G>A NP_001365383.1:p.Gln1817= NC_000002.12:73451977:G:A p.(Gln1817=) NC_000002.12:73451977:G:A p.(Gln1817=) NC_000002.12:73451977:G:A Identity +NM_001197104.2:c.6861A>C NP_001184033.1:p.Ser2287= NC_000011.10:118502752:A:C p.(Ser2287=) NC_000011.10:118502752:A:C p.(Ser2287=) NC_000011.10:118502752:A:C Identity +NM_001261427.3:c.2070C>T NP_001248356.1:p.Thr690= NC_000002.12:11804568:C:T p.(Thr690=) NC_000002.12:11804568:C:T p.(Thr690=) NC_000002.12:11804568:C:T Identity +NM_001256182.2:c.3570T>C NP_001243111.1:p.Ala1190= NC_000016.10:89282971:A:G p.(Ala1190=) NC_000016.10:89282971:A:G p.(Ala1190=) NC_000016.10:89282971:A:G Identity +NM_001410858.1:c.2304T>C NP_001397787.1:p.Asn768= NC_000018.10:45930783:A:G p.(Asn768=) NC_000018.10:45930783:A:G p.(Asn768=) NC_000018.10:45930783:A:G Identity +NM_001358921.2:c.708T>C NP_001345850.1:p.Leu236= NC_000004.12:83269913:A:G p.(Leu236=) NC_000004.12:83269913:A:G p.(Leu236=) NC_000004.12:83269913:A:G Identity +NM_000540.3:c.13668G>A NP_000531.2:p.Leu4556= NC_000019.10:38570614:G:A p.(Leu4556=) NC_000019.10:38570614:G:A p.(Leu4556=) NC_000019.10:38570614:G:A Identity +NM_000153.4:c.447G>A NP_000144.2:p.Leu149= NC_000014.9:87984528:C:T p.(Leu149=) NC_000014.9:87984528:C:T p.(Leu149=) NC_000014.9:87984528:C:T Identity +NM_005559.4:c.7299G>A NP_005550.2:p.Pro2433= NC_000018.10:6964699:C:T p.(Pro2433=) NC_000018.10:6964699:C:T p.(Pro2433=) NC_000018.10:6964699:C:T Identity +NM_000494.4:c.1224A>G NP_000485.3:p.Gly408= NC_000010.11:104058188:T:C p.(Gly408=) NC_000010.11:104058188:T:C p.(Gly408=) NC_000010.11:104058188:T:C Identity +NM_000501.4:c.1881T>A NP_000492.2:p.Ala627= NC_000007.14:74063331:T:A p.(Ala627=) NC_000007.14:74063331:T:A p.(Ala627=) NC_000007.14:74063331:T:A Identity +NM_001014763.1:c.334C>A NP_001014763.1:p.Arg112= NC_000019.10:51354304:G:T p.(Arg112=) NC_000019.10:51354304:G:T p.(Arg112=) NC_000019.10:51354304:G:T Identity +NM_001271723.2:c.1302A>T NP_001258652.1:p.Leu434= NC_000005.10:148415964:A:T p.(Leu434=) NC_000005.10:148415964:A:T p.(Leu434=) NC_000005.10:148415964:A:T Identity +NM_000238.4:c.1878C>T NP_000229.1:p.Gly626= NC_000007.14:150951514:G:A p.(Gly626=) NC_000007.14:150951514:G:A p.(Gly626=) NC_000007.14:150951514:G:A Identity +NM_000527.5:c.1936C>T NP_000518.1:p.Leu646= NC_000019.10:11120181:C:T p.(Leu646=) NC_000019.10:11120181:C:T p.(Leu646=) NC_000019.10:11120181:C:T Identity +NM_000251.3:c.1167A>C NP_000242.1:p.Arg389= NC_000002.12:47429831:A:C p.(Arg389=) NC_000002.12:47429831:A:C p.(Arg389=) NC_000002.12:47429831:A:C Identity +NM_000038.6:c.7170T>C NP_000029.2:p.Ser2390= NC_000005.10:112842763:T:C p.(Ser2390=) NC_000005.10:112842763:T:C p.(Ser2390=) NC_000005.10:112842763:T:C Identity +NM_001040113.2:c.2730T>C NP_001035202.1:p.Tyr910= NC_000016.10:15741612:A:G p.(Tyr910=) NC_000016.10:15741612:A:G p.(Tyr910=) NC_000016.10:15741612:A:G Identity +NM_000535.7:c.822A>C NP_000526.2:p.Ser274= NC_000007.14:5995614:T:G p.(Ser274=) NC_000007.14:5995614:T:G p.(Ser274=) NC_000007.14:5995614:T:G Identity +NM_002876.4:c.165A>G NP_002867.1:p.Ala55= NC_000017.11:58694949:A:G p.(Ala55=) NC_000017.11:58694949:A:G p.(Ala55=) NC_000017.11:58694949:A:G Identity +NM_000051.4:c.1914A>G NP_000042.3:p.Lys638= NC_000011.10:108253828:A:G p.(Lys638=) NC_000011.10:108253828:A:G p.(Lys638=) NC_000011.10:108253828:A:G Identity +NM_000051.4:c.4578C>G NP_000042.3:p.Pro1526= NC_000011.10:108292759:C:G p.(Pro1526=) NC_000011.10:108292759:C:G p.(Pro1526=) NC_000011.10:108292759:C:G Identity +NM_000038.6:c.1158A>C NP_000029.2:p.Ala386= NC_000005.10:112819189:A:C p.(Ala386=) NC_000005.10:112819189:A:C p.(Ala386=) NC_000005.10:112819189:A:C Identity +NM_032043.3:c.2745G>A NP_114432.2:p.Lys915= NC_000017.11:61685995:C:T p.(Lys915=) NC_000017.11:61685995:C:T p.(Lys915=) NC_000017.11:61685995:C:T Identity +NM_032043.3:c.582A>G NP_114432.2:p.Lys194= NC_000017.11:61847145:T:C p.(Lys194=) NC_000017.11:61847145:T:C p.(Lys194=) NC_000017.11:61847145:T:C Identity +NM_001142929.2:c.630T>C NP_001136401.2:p.Asp210= NC_000010.11:49627657:T:C p.(Asp210=) NC_000010.11:49627657:T:C p.(Asp210=) NC_000010.11:49627657:T:C Identity +NM_001160227.2:c.2496A>G NP_001153699.1:p.Ser832= NC_000015.10:44621882:T:C p.(Ser832=) NC_000015.10:44621882:T:C p.(Ser832=) NC_000015.10:44621882:T:C Identity +NM_001178074.2:c.204A>G NP_001171545.1:p.Val68= NC_000012.12:66541882:T:C p.(Val68=) NC_000012.12:66541882:T:C p.(Val68=) NC_000012.12:66541882:T:C Identity +NM_001291494.2:c.6G>T NP_001278423.1:p.Ser2= NC_000010.11:15719765:C:A p.(Ser2=) NC_000010.11:15719765:C:A p.(Ser2=) NC_000010.11:15719765:C:A Identity +NM_014639.4:c.2193A>G NP_055454.1:p.Ala731= NC_000005.10:95517243:T:C p.(Ala731=) NC_000005.10:95517243:T:C p.(Ala731=) NC_000005.10:95517243:T:C Identity +NM_001270507.2:c.141A>C NP_001257436.1:p.Thr47= NC_000006.12:137871367:A:C p.(Thr47=) NC_000006.12:137871367:A:C p.(Thr47=) NC_000006.12:137871367:A:C Identity +NM_001404659.1:c.783T>C NP_001391588.1:p.Ala261= NC_000011.10:65655724:A:G p.(Ala261=) NC_000011.10:65655724:A:G p.(Ala261=) NC_000011.10:65655724:A:G Identity +NM_000181.4:c.612A>G NP_000172.2:p.Thr204= NC_000007.14:65979510:T:C p.(Thr204=) NC_000007.14:65979510:T:C p.(Thr204=) NC_000007.14:65979510:T:C Identity +NM_001207055.2:c.537G>A NP_001193984.1:p.Lys179= NC_000020.11:32788861:G:A p.(Lys179=) NC_000020.11:32788861:G:A p.(Lys179=) NC_000020.11:32788861:G:A Identity +NM_000550.3:c.138C>A NP_000541.1:p.Ser46= NC_000009.12:12694133:C:A p.(Ser46=) NC_000009.12:12694133:C:A p.(Ser46=) NC_000009.12:12694133:C:A Identity +NM_001199777.2:c.981T>C NP_001186706.1:p.Ser327= NC_000012.12:89459643:A:G p.(Ser327=) NC_000012.12:89459643:A:G p.(Ser327=) NC_000012.12:89459643:A:G Identity +NM_001135.4:c.1683C>G NP_001126.3:p.Arg561= NC_000015.10:88847988:C:G p.(Arg561=) NC_000015.10:88847988:C:G p.(Arg561=) NC_000015.10:88847988:C:G Identity +NM_000466.3:c.3588G>A NP_000457.1:p.Leu1196= NC_000007.14:92489761:C:T p.(Leu1196=) NC_000007.14:92489761:C:T p.(Leu1196=) NC_000007.14:92489761:C:T Identity +NM_004782.4:c.159T>G NP_004773.1:p.Ala53= NC_000022.11:20859268:T:G p.(Ala53=) NC_000022.11:20859268:T:G p.(Ala53=) NC_000022.11:20859268:T:G Identity +NM_001278196.2:c.990C>T NP_001265125.1:p.Asp330= NC_000001.11:244054790:C:T p.(Asp330=) NC_000001.11:244054790:C:T p.(Asp330=) NC_000001.11:244054790:C:T Identity +NM_152268.4:c.324G>A NP_689481.2:p.Glu108= NC_000001.11:54758837:C:T p.(Glu108=) NC_000001.11:54758837:C:T p.(Glu108=) NC_000001.11:54758837:C:T Identity +NM_001164507.2:c.22365G>A NP_001157979.2:p.Gln7455= NC_000002.12:151524523:C:T p.(Gln7455=) NC_000002.12:151524523:C:T p.(Gln7455=) NC_000002.12:151524523:C:T Identity +NM_000348.4:c.402T>C NP_000339.2:p.Ala134= NC_000002.12:31533645:A:G p.(Ala134=) NC_000002.12:31533645:A:G p.(Ala134=) NC_000002.12:31533645:A:G Identity +NM_001190981.2:c.1731G>T NP_001177910.1:p.Leu577= NC_000005.10:55947515:C:A p.(Leu577=) NC_000005.10:55947515:C:A p.(Leu577=) NC_000005.10:55947515:C:A Identity +NM_001297764.2:c.136C>T NP_001284693.1:p.Leu46= NC_000011.10:17531510:G:A p.(Leu46=) NC_000011.10:17531510:G:A p.(Leu46=) NC_000011.10:17531510:G:A Identity +NM_001165962.2:c.777T>C NP_001159434.1:p.Pro259= NC_000017.11:13005074:A:G p.(Pro259=) NC_000017.11:13005074:A:G p.(Pro259=) NC_000017.11:13005074:A:G Identity +NM_000319.5:c.936T>C NP_000310.2:p.Tyr312= NC_000012.12:7203544:T:C p.(Tyr312=) NC_000012.12:7203544:T:C p.(Tyr312=) NC_000012.12:7203544:T:C Identity +NM_020533.3:c.46C>T NP_065394.1:p.Leu16= NC_000019.10:7524974:C:T p.(Leu16=) NC_000019.10:7524974:C:T p.(Leu16=) NC_000019.10:7524974:C:T Identity +NM_004525.3:c.9882C>T NP_004516.2:p.Leu3294= NC_000002.12:169182282:G:A p.(Leu3294=) NC_000002.12:169182282:G:A p.(Leu3294=) NC_000002.12:169182282:G:A Identity +NM_000719.7:c.6258C>A NP_000710.5:p.Ala2086= NC_000012.12:2691039:C:A p.(Ala2086=) NC_000012.12:2691039:C:A p.(Ala2086=) NC_000012.12:2691039:C:A Identity +NM_002490.6:c.105C>A NP_002481.3:p.Leu35= NC_000022.11:42090639:G:T p.(Leu35=) NC_000022.11:42090639:G:T p.(Leu35=) NC_000022.11:42090639:G:T Identity +NM_001199.4:c.1953G>A NP_001190.1:p.Val651= NC_000008.11:22197265:G:A p.(Val651=) NC_000008.11:22197265:G:A p.(Val651=) NC_000008.11:22197265:G:A Identity +NM_000334.4:c.3030C>T NP_000325.4:p.Ser1010= NC_000017.11:63948724:G:A p.(Ser1010=) NC_000017.11:63948724:G:A p.(Ser1010=) NC_000017.11:63948724:G:A Identity +NM_004501.3:c.1284T>C NP_004492.2:p.His428= NC_000001.11:244858163:A:G p.(His428=) NC_000001.11:244858163:A:G p.(His428=) NC_000001.11:244858163:A:G Identity +NM_001042544.1:c.1989A>G NP_001036009.1:p.Ala663= NC_000019.10:40610634:A:G p.(Ala663=) NC_000019.10:40610634:A:G p.(Ala663=) NC_000019.10:40610634:A:G Identity +NM_138694.4:c.6294T>A NP_619639.3:p.Thr2098= NC_000006.12:51912403:A:T p.(Thr2098=) NC_000006.12:51912403:A:T p.(Thr2098=) NC_000006.12:51912403:A:T Identity +NM_000494.4:c.2808T>C NP_000485.3:p.Gly936= NC_000010.11:104039620:A:G p.(Gly936=) NC_000010.11:104039620:A:G p.(Gly936=) NC_000010.11:104039620:A:G Identity +NM_138694.4:c.5748T>C NP_619639.3:p.Thr1916= NC_000006.12:52010311:A:G p.(Thr1916=) NC_000006.12:52010311:A:G p.(Thr1916=) NC_000006.12:52010311:A:G Identity +NM_001166292.2:c.354C>T NP_001159764.1:p.Thr118= NC_000001.11:44832252:G:A p.(Thr118=) NC_000001.11:44832252:G:A p.(Thr118=) NC_000001.11:44832252:G:A Identity +NM_001367624.2:c.3315G>A NP_001354553.1:p.Pro1105= NC_000016.10:88430784:G:A p.(Pro1105=) NC_000016.10:88430784:G:A p.(Pro1105=) NC_000016.10:88430784:G:A Identity +NM_020338.4:c.3177C>T NP_065071.1:p.Asp1059= NC_000010.11:79312721:C:T p.(Asp1059=) NC_000010.11:79312721:C:T p.(Asp1059=) NC_000010.11:79312721:C:T Identity +NM_001220767.2:c.447G>C NP_001207696.1:p.Leu149= NC_000007.14:50387462:G:C p.(Leu149=) NC_000007.14:50387462:G:C p.(Leu149=) NC_000007.14:50387462:G:C Identity +NM_001351273.1:c.5163C>A NP_001338202.1:p.Ser1721= NC_000019.10:1468466:C:A p.(Ser1721=) NC_000019.10:1468466:C:A p.(Ser1721=) NC_000019.10:1468466:C:A Identity +NM_001261826.3:c.1905G>A NP_001248755.1:p.Glu635= NC_000019.10:2116700:C:T p.(Glu635=) NC_000019.10:2116700:C:T p.(Glu635=) NC_000019.10:2116700:C:T Identity +NM_000443.4:c.810G>A NP_000434.1:p.Gly270= NC_000007.14:87449990:C:T p.(Gly270=) NC_000007.14:87449990:C:T p.(Gly270=) NC_000007.14:87449990:C:T Identity +NM_001916.5:c.810G>A NP_001907.3:p.Val270= NC_000008.11:144097070:G:A p.(Val270=) NC_000008.11:144097070:G:A p.(Val270=) NC_000008.11:144097070:G:A Identity +NM_025000.4:c.1047T>C NP_079276.2:p.Pro349= NC_000002.12:171473930:T:C p.(Pro349=) NC_000002.12:171473930:T:C p.(Pro349=) NC_000002.12:171473930:T:C Identity +NM_138691.3:c.1620C>T NP_619636.2:p.Leu540= NC_000009.12:72805434:C:T p.(Leu540=) NC_000009.12:72805434:C:T p.(Leu540=) NC_000009.12:72805434:C:T Identity +NM_001002019.3:c.288C>T NP_001002019.1:p.Gly96= NC_000012.12:131932242:C:T p.(Gly96=) NC_000012.12:131932242:C:T p.(Gly96=) NC_000012.12:131932242:C:T Identity +NM_001193307.2:c.4716T>C NP_001180236.1:p.Phe1572= NC_000007.14:93101381:A:G p.(Phe1572=) NC_000007.14:93101381:A:G p.(Phe1572=) NC_000007.14:93101381:A:G Identity +NM_001410705.1:c.4221G>A NP_001397634.1:p.Leu1407= NC_000023.11:153954177:C:T p.(Leu1407=) NC_000023.11:153954177:C:T p.(Leu1407=) NC_000023.11:153954177:C:T Identity +NM_001278055.2:c.5664A>G NP_001264984.1:p.Leu1888= NC_000013.11:23337770:T:C p.(Leu1888=) NC_000013.11:23337770:T:C p.(Leu1888=) NC_000013.11:23337770:T:C Identity +NM_001164665.2:c.687C>T NP_001158137.1:p.Phe229= NC_000007.14:138918938:G:A p.(Phe229=) NC_000007.14:138918938:G:A p.(Phe229=) NC_000007.14:138918938:G:A Identity +NM_001042437.2:c.363T>C NP_001035902.1:p.Phe121= NC_000002.12:85848090:A:G p.(Phe121=) NC_000002.12:85848090:A:G p.(Phe121=) NC_000002.12:85848090:A:G Identity +NM_003701.4:c.762C>G NP_003692.1:p.Thr254= NC_000013.11:42606725:C:G p.(Thr254=) NC_000013.11:42606725:C:G p.(Thr254=) NC_000013.11:42606725:C:G Identity +NM_003880.4:c.357T>A NP_003871.1:p.Ala119= NC_000006.12:112064764:T:A p.(Ala119=) NC_000006.12:112064764:T:A p.(Ala119=) NC_000006.12:112064764:T:A Identity +NM_006612.6:c.2934C>G NP_006603.2:p.Arg978= NC_000017.11:5023772:C:G p.(Arg978=) NC_000017.11:5023772:C:G p.(Arg978=) NC_000017.11:5023772:C:G Identity +NM_001257374.3:c.234G>A NP_001244303.1:p.Arg78= NC_000001.11:156134458:G:A p.(Arg78=) NC_000001.11:156134458:G:A p.(Arg78=) NC_000001.11:156134458:G:A Identity +NM_015657.4:c.2823T>C NP_056472.2:p.Ala941= NC_000002.12:214989380:A:G p.(Ala941=) NC_000002.12:214989380:A:G p.(Ala941=) NC_000002.12:214989380:A:G Identity +NM_007215.4:c.1248T>C NP_009146.2:p.Gly416= NC_000017.11:64480332:A:G p.(Gly416=) NC_000017.11:64480332:A:G p.(Gly416=) NC_000017.11:64480332:A:G Identity +NM_020928.2:c.3201T>A NP_065979.1:p.Pro1067= NC_000005.10:61543869:T:A p.(Pro1067=) NC_000005.10:61543869:T:A p.(Pro1067=) NC_000005.10:61543869:T:A Identity +NM_014014.5:c.5437C>T NP_054733.2:p.Leu1813= NC_000002.12:96278597:G:A p.(Leu1813=) NC_000002.12:96278597:G:A p.(Leu1813=) NC_000002.12:96278597:G:A Identity +NM_000094.4:c.6489T>C NP_000085.1:p.Pro2163= NC_000003.12:48574273:A:G p.(Pro2163=) NC_000003.12:48574273:A:G p.(Pro2163=) NC_000003.12:48574273:A:G Identity +NM_025081.3:c.5151G>A NP_079357.2:p.Gly1717= NC_000014.9:24416899:G:A p.(Gly1717=) NC_000014.9:24416899:G:A p.(Gly1717=) NC_000014.9:24416899:G:A Identity +NM_145290.4:c.1023A>G NP_660333.2:p.Val341= NC_000004.12:22438317:T:C p.(Val341=) NC_000004.12:22438317:T:C p.(Val341=) NC_000004.12:22438317:T:C Identity +NM_001197104.2:c.1965A>G NP_001184033.1:p.Pro655= NC_000011.10:118473123:A:G p.(Pro655=) NC_000011.10:118473123:A:G p.(Pro655=) NC_000011.10:118473123:A:G Identity +NM_001280787.1:c.504C>T NP_001267716.1:p.Thr168= NC_000009.12:133352062:G:A p.(Thr168=) NC_000009.12:133352062:G:A p.(Thr168=) NC_000009.12:133352062:G:A Identity +NM_001318746.1:c.147T>C NP_001305675.1:p.Pro49= NC_000006.12:106621472:A:G p.(Pro49=) NC_000006.12:106621472:A:G p.(Pro49=) NC_000006.12:106621472:A:G Identity +NM_001385640.1:c.1629G>A NP_001372569.1:p.Glu543= NC_000001.11:942630:G:A p.(Glu543=) NC_000001.11:942630:G:A p.(Glu543=) NC_000001.11:942630:G:A Identity +NM_001013838.3:c.1455C>T NP_001013860.1:p.Gly485= NC_000016.10:67648699:C:T p.(Gly485=) NC_000016.10:67648699:C:T p.(Gly485=) NC_000016.10:67648699:C:T Identity +NM_001378454.1:c.9738A>C NP_001365383.1:p.Ser3246= NC_000002.12:73519972:A:C p.(Ser3246=) NC_000002.12:73519972:A:C p.(Ser3246=) NC_000002.12:73519972:A:C Identity +NM_000453.3:c.1716A>G NP_000444.1:p.Ala572= NC_000019.10:17890949:A:G p.(Ala572=) NC_000019.10:17890949:A:G p.(Ala572=) NC_000019.10:17890949:A:G Identity +NM_004782.4:c.102G>T NP_004773.1:p.Gly34= NC_000022.11:20859211:G:T p.(Gly34=) NC_000022.11:20859211:G:T p.(Gly34=) NC_000022.11:20859211:G:T Identity +NM_001035506.1:c.156T>C NP_001030583.1:p.Tyr52= NC_000002.12:27053113:T:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_002838.5:c.2358C>T NP_002829.3:p.His786= NC_000001.11:198735206:C:T p.(His786=) NC_000001.11:198735206:C:T p.(His786=) NC_000001.11:198735206:C:T Identity +NM_018112.3:c.477G>A NP_060582.1:p.Thr159= NC_000009.12:105722555:G:A p.(Thr159=) NC_000009.12:105722555:G:A p.(Thr159=) NC_000009.12:105722555:G:A Identity +NM_001099403.2:c.564T>C NP_001092873.1:p.Ser188= NC_000004.12:80202025:T:C p.(Ser188=) NC_000004.12:80202025:T:C p.(Ser188=) NC_000004.12:80202025:T:C Identity +NM_000285.4:c.1230C>G NP_000276.2:p.Thr410= NC_000019.10:33388003:G:C p.(Thr410=) NC_000019.10:33388003:G:C p.(Thr410=) NC_000019.10:33388003:G:C Identity +NM_001384732.1:c.4692A>G NP_001371661.1:p.Arg1564= NC_000005.10:37183488:T:C p.(Arg1564=) NC_000005.10:37183488:T:C p.(Arg1564=) NC_000005.10:37183488:T:C Identity +NM_001363602.2:c.336C>T NP_001350531.1:p.Ala112= NC_000019.10:1390977:C:T p.(Ala112=) NC_000019.10:1390977:C:T p.(Ala112=) NC_000019.10:1390977:C:T Identity +NM_000238.4:c.1605G>T NP_000229.1:p.Val535= NC_000007.14:150951787:C:A p.(Val535=) NC_000007.14:150951787:C:A p.(Val535=) NC_000007.14:150951787:C:A Identity +NM_000302.4:c.1186C>T NP_000293.2:p.Leu396= NC_000001.11:11963619:C:T p.(Leu396=) NC_000001.11:11963619:C:T p.(Leu396=) NC_000001.11:11963619:C:T Identity +NM_016239.4:c.6846C>T NP_057323.3:p.Tyr2282= NC_000017.11:18148841:C:T p.(Tyr2282=) NC_000017.11:18148841:C:T p.(Tyr2282=) NC_000017.11:18148841:C:T Identity +NM_004525.3:c.1176C>A NP_004516.2:p.Gly392= NC_000002.12:169280514:G:T p.(Gly392=) NC_000002.12:169280514:G:T p.(Gly392=) NC_000002.12:169280514:G:T Identity +NM_001168298.2:c.903T>C NP_001161770.1:p.Ile301= NC_000002.12:218135703:T:C p.(Ile301=) NC_000002.12:218135703:T:C p.(Ile301=) NC_000002.12:218135703:T:C Identity +NM_001041.4:c.894T>C NP_001032.2:p.Asn298= NC_000003.12:165063454:A:G p.(Asn298=) NC_000003.12:165063454:A:G p.(Asn298=) NC_000003.12:165063454:A:G Identity +NM_001379291.1:c.2277G>A NP_001366220.1:p.Pro759= NC_000019.10:15244534:C:T p.(Pro759=) NC_000019.10:15244534:C:T p.(Pro759=) NC_000019.10:15244534:C:T Identity +NM_001425246.1:c.561C>T NP_001412175.1:p.Ser187= NC_000014.9:102929498:C:T p.(Ser187=) NC_000014.9:102929498:C:T p.(Ser187=) NC_000014.9:102929498:C:T Identity +NM_031407.7:c.8820C>T NP_113584.3:p.Ser2940= NC_000023.11:53552371:G:A p.(Ser2940=) NC_000023.11:53552371:G:A p.(Ser2940=) NC_000023.11:53552371:G:A Identity +NM_001308258.2:c.120G>A NP_001295187.1:p.Lys40= NC_000003.12:149129842:G:A p.(Lys40=) NC_000003.12:149129842:G:A p.(Lys40=) NC_000003.12:149129842:G:A Identity +NM_207361.6:c.1806A>G NP_997244.4:p.Ser602= NC_000013.11:38689149:A:G p.(Ser602=) NC_000013.11:38689149:A:G p.(Ser602=) NC_000013.11:38689149:A:G Identity +NM_000381.4:c.264A>G NP_000372.1:p.Lys88= NC_000023.11:10567283:T:C p.(Lys88=) NC_000023.11:10567283:T:C p.(Lys88=) NC_000023.11:10567283:T:C Identity +NM_001080463.2:c.8559A>G NP_001073932.1:p.Lys2853= NC_000011.10:103211807:A:G p.(Lys2853=) NC_000011.10:103211807:A:G p.(Lys2853=) NC_000011.10:103211807:A:G Identity +NM_001293306.2:c.5604C>T NP_001280235.2:p.Arg1868= NC_000003.12:38697612:G:A p.(Arg1868=) NC_000003.12:38697612:G:A p.(Arg1868=) NC_000003.12:38697612:G:A Identity +NM_001190720.3:c.1377C>T NP_001177649.2:p.Leu459= NC_000008.11:42319636:C:T p.(Leu459=) NC_000008.11:42319636:C:T p.(Leu459=) NC_000008.11:42319636:C:T Identity +NM_001346813.1:c.3831C>T NP_001333742.1:p.His1277= NC_000006.12:157190058:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001621.5:c.2419T>C NP_001612.1:p.Leu807= NC_000007.14:17342935:T:C p.(Leu807=) NC_000007.14:17342935:T:C p.(Leu807=) NC_000007.14:17342935:T:C Identity +NM_000337.6:c.540A>G NP_000328.2:p.Thr180= NC_000005.10:156647500:A:G p.(Thr180=) NC_000005.10:156647500:A:G p.(Thr180=) NC_000005.10:156647500:A:G Identity +NM_000601.6:c.801G>C NP_000592.3:p.Pro267= NC_000007.14:81743416:C:G p.(Pro267=) NC_000007.14:81743416:C:G p.(Pro267=) NC_000007.14:81743416:C:G Identity +NM_000294.3:c.288C>G NP_000285.1:p.Ser96= NC_000016.10:30751564:C:G p.(Ser96=) NC_000016.10:30751564:C:G p.(Ser96=) NC_000016.10:30751564:C:G Identity +NM_001256820.2:c.313C>T NP_001243749.1:p.Leu105= NC_000001.11:155904318:G:A p.(Leu105=) NC_000001.11:155904318:G:A p.(Leu105=) NC_000001.11:155904318:G:A Identity +NM_003880.4:c.777A>G NP_003871.1:p.Thr259= NC_000006.12:112068391:A:G p.(Thr259=) NC_000006.12:112068391:A:G p.(Thr259=) NC_000006.12:112068391:A:G Identity +NM_014244.5:c.1593G>A NP_055059.2:p.Gly531= NC_000005.10:179152177:C:T p.(Gly531=) NC_000005.10:179152177:C:T p.(Gly531=) NC_000005.10:179152177:C:T Identity +NM_174916.3:c.1437A>C NP_777576.1:p.Leu479= NC_000015.10:43054743:T:G p.(Leu479=) NC_000015.10:43054743:T:G p.(Leu479=) NC_000015.10:43054743:T:G Identity +NM_000540.3:c.4140C>T NP_000531.2:p.Thr1380= NC_000019.10:38473750:C:T p.(Thr1380=) NC_000019.10:38473750:C:T p.(Thr1380=) NC_000019.10:38473750:C:T Identity +NM_000547.6:c.2268T>C NP_000538.3:p.Cys756= NC_000002.12:1496646:T:C p.(Cys756=) NC_000002.12:1496646:T:C p.(Cys756=) NC_000002.12:1496646:T:C Identity +NM_138694.4:c.9216G>T NP_619639.3:p.Ala3072= NC_000006.12:51748399:C:A p.(Ala3072=) NC_000006.12:51748399:C:A p.(Ala3072=) NC_000006.12:51748399:C:A Identity +NM_021619.3:c.93C>T NP_067632.2:p.Asp31= NC_000009.12:130664745:C:T p.(Asp31=) NC_000009.12:130664745:C:T p.(Asp31=) NC_000009.12:130664745:C:T Identity +NM_001354609.2:c.774T>A NP_001341538.1:p.Gly258= NC_000007.14:140801497:A:T p.(Gly258=) NC_000007.14:140801497:A:T p.(Gly258=) NC_000007.14:140801497:A:T Identity +NM_001197104.2:c.5400A>G NP_001184033.1:p.Ser1800= NC_000011.10:118495735:A:G p.(Ser1800=) NC_000011.10:118495735:A:G p.(Ser1800=) NC_000011.10:118495735:A:G Identity +NM_001844.5:c.3936G>A NP_001835.3:p.Lys1312= NC_000012.12:47974812:C:T p.(Lys1312=) NC_000012.12:47974812:C:T p.(Lys1312=) NC_000012.12:47974812:C:T Identity +NM_003632.3:c.3204T>C NP_003623.1:p.Pro1068= NC_000017.11:42695731:T:C p.(Pro1068=) NC_000017.11:42695731:T:C p.(Pro1068=) NC_000017.11:42695731:T:C Identity +NM_001204269.2:c.687C>T NP_001191198.1:p.Cys229= NC_000001.11:110604095:G:A p.(Cys229=) NC_000001.11:110604095:G:A p.(Cys229=) NC_000001.11:110604095:G:A Identity +NM_001080414.4:c.4398C>T NP_001073883.2:p.Asn1466= NC_000014.9:91289147:G:A p.(Asn1466=) NC_000014.9:91289147:G:A p.(Asn1466=) NC_000014.9:91289147:G:A Identity +NM_016216.4:c.150C>T NP_057300.2:p.Arg50= NC_000003.12:138174645:G:A p.(Arg50=) NC_000003.12:138174645:G:A p.(Arg50=) NC_000003.12:138174645:G:A Identity +NM_001141945.3:c.837C>A NP_001135417.1:p.Thr279= NC_000010.11:88938213:G:T p.(Thr279=) NC_000010.11:88938213:G:T p.(Thr279=) NC_000010.11:88938213:G:T Identity +NM_024747.6:c.1581C>T NP_079023.2:p.Leu527= NC_000010.11:102067054:C:T p.(Leu527=) NC_000010.11:102067054:C:T p.(Leu527=) NC_000010.11:102067054:C:T Identity +NM_001362949.2:c.468G>C NP_001349878.1:p.Leu156= NC_000022.11:33626266:C:G p.(Leu156=) NC_000022.11:33626266:C:G p.(Leu156=) NC_000022.11:33626266:C:G Identity +NM_001197104.2:c.171C>G NP_001184033.1:p.Pro57= NC_000011.10:118436682:C:G p.(Pro57=) NC_000011.10:118436682:C:G p.(Pro57=) NC_000011.10:118436682:C:G Identity +NM_000260.4:c.6459C>A NP_000251.3:p.Pro2153= NC_000011.10:77213879:C:A p.(Pro2153=) NC_000011.10:77213879:C:A p.(Pro2153=) NC_000011.10:77213879:C:A Identity +NM_001278590.2:c.989A>G NP_001265519.1:p.Ter330= NC_000004.12:39477113:A:G p.(Ter330=) NC_000004.12:39477113:A:G p.(Ter330Ter) NC_000004.12:39477113:A:G Identity +NM_001039876.3:c.672G>C NP_001034965.1:p.Ser224= NC_000019.10:36006617:C:G p.(Ser224=) NC_000019.10:36006617:C:G p.(Ser224=) NC_000019.10:36006617:C:G Identity +NM_005876.5:c.4428G>T NP_005867.3:p.Ser1476= NC_000002.12:219473883:G:T p.(Ser1476=) NC_000002.12:219473883:G:T p.(Ser1476=) NC_000002.12:219473883:G:T Identity +NM_001315529.2:c.4023C>G NP_001302458.1:p.Ala1341= NC_000021.9:46397424:C:G p.(Ala1341=) NC_000021.9:46397424:C:G p.(Ala1341=) NC_000021.9:46397424:C:G Identity +NM_000211.5:c.1782C>T NP_000202.3:p.Gly594= NC_000021.9:44889370:G:A p.(Gly594=) NC_000021.9:44889370:G:A p.(Gly594=) NC_000021.9:44889370:G:A Identity +NM_001410890.1:c.732A>G NP_001397819.1:p.Gln244= NC_000001.11:161802094:A:G p.(Gln244=) NC_000001.11:161802094:A:G p.(Gln244=) NC_000001.11:161802094:A:G Identity +NM_001145472.3:c.195A>T NP_001138944.1:p.Thr65= NC_000018.10:46545407:T:A p.(Thr65=) NC_000018.10:46545407:T:A p.(Thr65=) NC_000018.10:46545407:T:A Identity +NM_004560.4:c.1887G>A NP_004551.2:p.Val629= NC_000009.12:91724606:C:T p.(Val629=) NC_000009.12:91724606:C:T p.(Val629=) NC_000009.12:91724606:C:T Identity +NM_001145527.2:c.1212C>T NP_001138999.1:p.Thr404= NC_000009.12:137752371:C:T p.(Thr404=) NC_000009.12:137752371:C:T p.(Thr404=) NC_000009.12:137752371:C:T Identity +NM_001848.3:c.1266G>A NP_001839.2:p.Gly422= NC_000021.9:45992391:G:A p.(Gly422=) NC_000021.9:45992391:G:A p.(Gly422=) NC_000021.9:45992391:G:A Identity +NM_001167594.3:c.765C>T NP_001161066.2:p.Leu255= NC_000020.11:45894687:C:T p.(Leu255=) NC_000020.11:45894687:C:T p.(Leu255=) NC_000020.11:45894687:C:T Identity +NM_014625.4:c.693C>T NP_055440.1:p.Leu231= NC_000001.11:179557071:G:A p.(Leu231=) NC_000001.11:179557071:G:A p.(Leu231=) NC_000001.11:179557071:G:A Identity +NM_001330588.2:c.397C>A NP_001317517.1:p.Arg133= NC_000013.11:102616401:C:A p.(Arg133=) NC_000013.11:102616401:C:A p.(Arg133=) NC_000013.11:102616401:C:A Identity +NM_001173466.2:c.1266C>T NP_001166937.1:p.Pro422= NC_000012.12:53307895:G:A p.(Pro422=) NC_000012.12:53307895:G:A p.(Pro422=) NC_000012.12:53307895:G:A Identity +NM_032119.4:c.6417T>C NP_115495.3:p.Asn2139= NC_000005.10:90685921:T:C p.(Asn2139=) NC_000005.10:90685921:T:C p.(Asn2139=) NC_000005.10:90685921:T:C Identity +NM_001278511.2:c.1341A>C NP_001265440.1:p.Ala447= NC_000015.10:82677324:T:G p.(Ala447=) NC_000015.10:82677324:T:G p.(Ala447=) NC_000015.10:82677324:T:G Identity +NM_001207055.2:c.1677T>C NP_001193984.1:p.Asn559= NC_000020.11:32800255:T:C p.(Asn559=) NC_000020.11:32800255:T:C p.(Asn559=) NC_000020.11:32800255:T:C Identity +NM_014244.5:c.3438C>T NP_055059.2:p.Ala1146= NC_000005.10:179114064:G:A p.(Ala1146=) NC_000005.10:179114064:G:A p.(Ala1146=) NC_000005.10:179114064:G:A Identity +NM_001098623.2:c.22221T>C NP_001092093.2:p.Asp7407= NC_000001.11:228372998:T:C p.(Asp7407=) NC_000001.11:228372998:T:C p.(Asp7407=) NC_000001.11:228372998:T:C Identity +NM_001174116.3:c.4806C>T NP_001167587.1:p.Ala1602= NC_000015.10:51491724:G:A p.(Ala1602=) NC_000015.10:51491724:G:A p.(Ala1602=) NC_000015.10:51491724:G:A Identity +NM_032444.4:c.1920T>C NP_115820.2:p.Thr640= NC_000016.10:3596156:A:G p.(Thr640=) NC_000016.10:3596156:A:G p.(Thr640=) NC_000016.10:3596156:A:G Identity +NM_001037333.3:c.621G>C NP_001032410.1:p.Ser207= NC_000005.10:157302844:G:C p.(Ser207=) NC_000005.10:157302844:G:C p.(Ser207=) NC_000005.10:157302844:G:C Identity +NM_001306079.2:c.4248G>A NP_001293008.1:p.Gly1416= NC_000002.12:27237418:G:A p.(Gly1416=) NC_000002.12:27237418:G:A p.(Gly1416=) NC_000002.12:27237418:G:A Identity +NM_001845.6:c.4917C>T NP_001836.3:p.Ser1639= NC_000013.11:110152344:G:A p.(Ser1639=) NC_000013.11:110152344:G:A p.(Ser1639=) NC_000013.11:110152344:G:A Identity +NM_000381.4:c.1462C>T NP_000372.1:p.Leu488= NC_000023.11:10455062:G:A p.(Leu488=) NC_000023.11:10455062:G:A p.(Leu488=) NC_000023.11:10455062:G:A Identity +NM_000441.2:c.282T>C NP_000432.1:p.Thr94= NC_000007.14:107663412:T:C p.(Thr94=) NC_000007.14:107663412:T:C p.(Thr94=) NC_000007.14:107663412:T:C Identity +NM_000629.3:c.354C>T NP_000620.2:p.Asp118= NC_000021.9:33341151:C:T p.(Asp118=) NC_000021.9:33341151:C:T p.(Asp118=) NC_000021.9:33341151:C:T Identity +NM_000183.3:c.648G>A NP_000174.1:p.Glu216= NC_000002.12:26279151:G:A p.(Glu216=) NC_000002.12:26279151:G:A p.(Glu216=) NC_000002.12:26279151:G:A Identity +NM_174916.3:c.4656G>A NP_777576.1:p.Leu1552= NC_000015.10:42963978:C:T p.(Leu1552=) NC_000015.10:42963978:C:T p.(Leu1552=) NC_000015.10:42963978:C:T Identity +NM_001278055.2:c.11373T>C NP_001264984.1:p.Ile3791= NC_000013.11:23332061:A:G p.(Ile3791=) NC_000013.11:23332061:A:G p.(Ile3791=) NC_000013.11:23332061:A:G Identity +NM_001114331.3:c.1626G>A NP_001107803.1:p.Leu542= NC_000016.10:1449064:C:T p.(Leu542=) NC_000016.10:1449064:C:T p.(Leu542=) NC_000016.10:1449064:C:T Identity +NM_004525.3:c.1548C>G NP_004516.2:p.Ala516= NC_000002.12:169279388:G:C p.(Ala516=) NC_000002.12:169279388:G:C p.(Ala516=) NC_000002.12:169279388:G:C Identity +NM_001370534.1:c.51C>G NP_001357463.1:p.Ala17= NC_000016.10:74661398:G:C p.(Ala17=) NC_000016.10:74661398:G:C p.(Ala17=) NC_000016.10:74661398:G:C Identity +NM_000304.4:c.267C>T NP_000295.1:p.Thr89= NC_000017.11:15239522:G:A p.(Thr89=) NC_000017.11:15239522:G:A p.(Thr89=) NC_000017.11:15239522:G:A Identity +LRG_1300t1:c.4836C>T LRG_1300p1:p.Leu1612= NC_000002.12:169235923:G:A ERR:Data provider error: ValueError: Transcript LRG_1300t1 not found ERR:Data provider error: ValueError: Transcript LRG_1300t1 not found ERR:AlignmentMapper(tx_ac=LRG_1300t1, alt_ac=LRG_1300t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1300t1, alt_ac=LRG_1300t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1300t1 not found +NM_001367624.2:c.9111C>T NP_001354553.1:p.His3037= NC_000016.10:88436580:C:T p.(His3037=) NC_000016.10:88436580:C:T p.(His3037=) NC_000016.10:88436580:C:T Identity +NM_001042437.2:c.930C>T NP_001035902.1:p.Gly310= NC_000002.12:85844404:G:A p.(Gly310=) NC_000002.12:85844404:G:A p.(Gly310=) NC_000002.12:85844404:G:A Identity +NM_001168249.1:c.2616C>T NP_001161721.1:p.Gly872= NC_000001.11:102962712:G:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001288607.2:c.1527T>G NP_001275536.1:p.Leu509= NC_000001.11:150556247:T:G p.(Leu509=) NC_000001.11:150556247:T:G p.(Leu509=) NC_000001.11:150556247:T:G Identity +NM_006929.5:c.2550G>A NP_008860.4:p.Gln850= NC_000006.12:31967343:G:A p.(Gln850=) NC_000006.12:31967343:G:A p.(Gln850=) NC_000006.12:31967343:G:A Identity +NM_018646.6:c.1200G>A NP_061116.5:p.Thr400= NC_000007.14:142875509:C:T p.(Thr400=) NC_000007.14:142875509:C:T p.(Thr400=) NC_000007.14:142875509:C:T Identity +NM_020376.4:c.675C>T NP_065109.1:p.Ala225= NC_000011.10:822584:C:T p.(Ala225=) NC_000011.10:822584:C:T p.(Ala225=) NC_000011.10:822584:C:T Identity +NM_000091.5:c.960T>G NP_000082.2:p.Pro320= NC_000002.12:227256368:T:G p.(Pro320=) NC_000002.12:227256368:T:G p.(Pro320=) NC_000002.12:227256368:T:G Identity +NM_000920.4:c.3027A>G NP_000911.2:p.Ser1009= NC_000011.10:66849730:T:C p.(Ser1009=) NC_000011.10:66849730:T:C p.(Ser1009=) NC_000011.10:66849730:T:C Identity +NM_001077653.2:c.57C>T NP_001071121.1:p.Ser19= NC_000007.14:35253563:G:A p.(Ser19=) NC_000007.14:35253563:G:A p.(Ser19=) NC_000007.14:35253563:G:A Identity +NM_012213.3:c.1254C>A NP_036345.2:p.Pro418= NC_000016.10:83915260:C:A p.(Pro418=) NC_000016.10:83915260:C:A p.(Pro418=) NC_000016.10:83915260:C:A Identity +NM_000262.3:c.246C>A NP_000253.1:p.Ile82= NC_000022.11:42067842:G:T p.(Ile82=) NC_000022.11:42067842:G:T p.(Ile82=) NC_000022.11:42067842:G:T Identity +NM_000350.3:c.4048C>T NP_000341.2:p.Leu1350= NC_000001.11:94031857:G:A p.(Leu1350=) NC_000001.11:94031857:G:A p.(Leu1350=) NC_000001.11:94031857:G:A Identity +NM_000403.4:c.180G>T NP_000394.2:p.Val60= NC_000001.11:23798671:C:A p.(Val60=) NC_000001.11:23798671:C:A p.(Val60=) NC_000001.11:23798671:C:A Identity +NM_005445.4:c.945A>G NP_005436.1:p.Glu315= NC_000010.11:110583523:A:G p.(Glu315=) NC_000010.11:110583523:A:G p.(Glu315=) NC_000010.11:110583523:A:G Identity +NM_006269.2:c.4155T>C NP_006260.1:p.Asn1385= NC_000008.11:54628036:T:C p.(Asn1385=) NC_000008.11:54628036:T:C p.(Asn1385=) NC_000008.11:54628036:T:C Identity +NM_001042517.2:c.2700T>C NP_001035982.1:p.Phe900= NC_000013.11:59861443:A:G p.(Phe900=) NC_000013.11:59861443:A:G p.(Phe900=) NC_000013.11:59861443:A:G Identity +NM_001317195.3:c.1269C>T NP_001304124.1:p.Ser423= NC_000016.10:68684668:C:T p.(Ser423=) NC_000016.10:68684668:C:T p.(Ser423=) NC_000016.10:68684668:C:T Identity +NM_001207014.3:c.444C>T NP_001193943.1:p.Arg148= NC_000011.10:75566792:C:T p.(Arg148=) NC_000011.10:75566792:C:T p.(Arg148=) NC_000011.10:75566792:C:T Identity +NM_001351278.2:c.45C>G NP_001338207.1:p.Leu15= NC_000017.11:8176241:G:C p.(Leu15=) NC_000017.11:8176241:G:C p.(Leu15=) NC_000017.11:8176241:G:C Identity +NM_001933.5:c.1098C>T NP_001924.2:p.Gly366= NC_000014.9:74901103:C:T p.(Gly366=) NC_000014.9:74901103:C:T p.(Gly366=) NC_000014.9:74901103:C:T Identity +NM_001080976.3:c.1809T>C NP_001074445.1:p.His603= NC_000006.12:116436276:T:C p.(His603=) NC_000006.12:116436276:T:C p.(His603=) NC_000006.12:116436276:T:C Identity +NM_000094.4:c.7923A>G NP_000085.1:p.Gly2641= NC_000003.12:48567843:T:C p.(Gly2641=) NC_000003.12:48567843:T:C p.(Gly2641=) NC_000003.12:48567843:T:C Identity +NM_001105243.2:c.2838G>C NP_001098713.1:p.Leu946= NC_000023.11:100296744:C:G p.(Leu946=) NC_000023.11:100296744:C:G p.(Leu946=) NC_000023.11:100296744:C:G Identity +NM_006063.3:c.1191T>C NP_006054.2:p.Asp397= NC_000002.12:169514653:T:C p.(Asp397=) NC_000002.12:169514653:T:C p.(Asp397=) NC_000002.12:169514653:T:C Identity +NM_000350.3:c.909C>T NP_000341.2:p.Leu303= NC_000001.11:94080667:G:A p.(Leu303=) NC_000001.11:94080667:G:A p.(Leu303=) NC_000001.11:94080667:G:A Identity +NM_001350914.2:c.1773A>G NP_001337843.1:p.Pro591= NC_000007.14:158918858:A:G p.(Pro591=) NC_000007.14:158918858:A:G p.(Pro591=) NC_000007.14:158918858:A:G Identity +NM_138694.4:c.5178C>G NP_619639.3:p.Ala1726= NC_000006.12:52024631:G:C p.(Ala1726=) NC_000006.12:52024631:G:C p.(Ala1726=) NC_000006.12:52024631:G:C Identity +NM_001365819.1:c.996G>A NP_001352748.1:p.Thr332= NC_000022.11:50465978:C:T p.(Thr332=) NC_000022.11:50465978:C:T p.(Thr332=) NC_000022.11:50465978:C:T Identity +NM_001300823.2:c.111C>T NP_001287752.1:p.Pro37= NC_000004.12:120907539:G:A p.(Pro37=) NC_000004.12:120907539:G:A p.(Pro37=) NC_000004.12:120907539:G:A Identity +NM_001257197.2:c.798A>G NP_001244126.1:p.Glu266= NC_000002.12:224506890:T:C p.(Glu266=) NC_000002.12:224506890:T:C p.(Glu266=) NC_000002.12:224506890:T:C Identity +NM_001256324.2:c.2211A>T NP_001243253.1:p.Arg737= NC_000017.11:50578473:A:T p.(Arg737=) NC_000017.11:50578473:A:T p.(Arg737=) NC_000017.11:50578473:A:T Identity +NM_000632.4:c.3252_3257dup NP_000623.2:p.Gly1086_Ala1087insGlnGly NC_000016.10:31330577:GGGACAGGG:GGGACAGGGACAGGG p.(Gln1085_Gly1086dup) NC_000016.10:31330577:GGGACAGGG:GGGACAGGGACAGGG p.(Gln1085_Gly1086dup) ERR:SPDI Analogous +NM_001089.3:c.4374C>A NP_001080.2:p.Ile1458= NC_000016.10:2279115:G:T p.(Ile1458=) NC_000016.10:2279115:G:T p.(Ile1458=) NC_000016.10:2279115:G:T Identity +NM_020381.4:c.306A>T NP_065114.3:p.Val102= NC_000006.12:107334322:T:A p.(Val102=) NC_000006.12:107334322:T:A p.(Val102=) NC_000006.12:107334322:T:A Identity +NM_032119.4:c.9576A>G NP_115495.3:p.Gln3192= NC_000005.10:90720175:A:G p.(Gln3192=) NC_000005.10:90720175:A:G p.(Gln3192=) NC_000005.10:90720175:A:G Identity +NM_001172417.1:c.387T>C NP_001165888.1:p.Tyr129= NC_000002.12:232768646:A:G p.(Tyr129=) NC_000002.12:232768646:A:G p.(Tyr129=) NC_000002.12:232768646:A:G Identity +NM_001130698.2:c.2175A>G NP_001124170.1:p.Gly725= NC_000004.12:121904399:T:C p.(Gly725=) NC_000004.12:121904399:T:C p.(Gly725=) NC_000004.12:121904399:T:C Identity +NM_001303496.3:c.1977C>G NP_001290425.1:p.Leu659= NC_000007.14:93133994:G:C p.(Leu659=) NC_000007.14:93133994:G:C p.(Leu659=) NC_000007.14:93133994:G:C Identity +NM_000785.4:c.393C>G NP_000776.1:p.Gly131= NC_000012.12:57765492:G:C p.(Gly131=) NC_000012.12:57765492:G:C p.(Gly131=) NC_000012.12:57765492:G:C Identity +NM_001172509.2:c.2010G>A NP_001165980.1:p.Val670= NC_000002.12:199272402:C:T p.(Val670=) NC_000002.12:199272402:C:T p.(Val670=) NC_000002.12:199272402:C:T Identity +NM_001039141.3:c.1224G>A NP_001034230.1:p.Gln408= NC_000022.11:37723779:G:A p.(Gln408=) NC_000022.11:37723779:G:A p.(Gln408=) NC_000022.11:37723779:G:A Identity +NM_001286834.3:c.399A>G NP_001273763.1:p.Gly133= NC_000002.12:3550404:T:C p.(Gly133=) NC_000002.12:3550404:T:C p.(Gly133=) NC_000002.12:3550404:T:C Identity +NM_001316690.1:c.2037A>C NP_001303619.1:p.Ala679= NC_000008.11:60865122:A:C p.(Ala679=) NC_000008.11:60865122:A:C p.(Ala679=) NC_000008.11:60865122:A:C Identity +NM_000293.3:c.1887C>T NP_000284.1:p.Ser629= NC_000016.10:47650836:C:T p.(Ser629=) NC_000016.10:47650836:C:T p.(Ser629=) NC_000016.10:47650836:C:T Identity +NM_000453.3:c.1126C>A NP_000444.1:p.Arg376= NC_000019.10:17882026:C:A p.(Arg376=) NC_000019.10:17882026:C:A p.(Arg376=) NC_000019.10:17882026:C:A Identity +NM_001329921.1:c.234G>A NP_001316850.1:p.Gly78= NC_000019.10:46608901:G:A p.(Gly78=) NC_000019.10:46608901:G:A p.(Gly78=) NC_000019.10:46608901:G:A Identity +NM_004565.3:c.753C>T NP_004556.1:p.Ser251= NC_000001.11:10629605:C:T p.(Ser251=) NC_000001.11:10629605:C:T p.(Ser251=) NC_000001.11:10629605:C:T Identity +NM_138691.3:c.1053A>C NP_619636.2:p.Ala351= NC_000009.12:72789145:A:C p.(Ala351=) NC_000009.12:72789145:A:C p.(Ala351=) NC_000009.12:72789145:A:C Identity +NM_002241.5:c.282G>A NP_002232.2:p.Gly94= NC_000001.11:160042250:C:T p.(Gly94=) NC_000001.11:160042250:C:T p.(Gly94=) NC_000001.11:160042250:C:T Identity +NM_000053.4:c.3648G>A NP_000044.2:p.Val1216= NC_000013.11:51939101:C:T p.(Val1216=) NC_000013.11:51939101:C:T p.(Val1216=) NC_000013.11:51939101:C:T Identity +NM_024408.4:c.5553A>G NP_077719.2:p.Ala1851= NC_000001.11:119919539:T:C p.(Ala1851=) NC_000001.11:119919539:T:C p.(Ala1851=) NC_000001.11:119919539:T:C Identity +NM_016616.5:c.267T>C NP_057700.3:p.Ser89= NC_000007.14:37857341:T:C p.(Ser89=) NC_000007.14:37857341:T:C p.(Ser89=) NC_000007.14:37857341:T:C Identity +NM_001145265.2:c.720G>A NP_001138737.1:p.Gln240= NC_000011.10:45810998:G:A p.(Gln240=) NC_000011.10:45810998:G:A p.(Gln240=) NC_000011.10:45810998:G:A Identity +NM_001042544.1:c.486G>A NP_001036009.1:p.Val162= NC_000019.10:40605068:G:A p.(Val162=) NC_000019.10:40605068:G:A p.(Val162=) NC_000019.10:40605068:G:A Identity +NM_199242.3:c.180C>G NP_954712.1:p.Leu60= NC_000017.11:75843239:G:C p.(Leu60=) NC_000017.11:75843239:G:C p.(Leu60=) NC_000017.11:75843239:G:C Identity +NM_001289164.3:c.1482C>T NP_001276093.1:p.Leu494= NC_000002.12:74534337:G:A p.(Leu494=) NC_000002.12:74534337:G:A p.(Leu494=) NC_000002.12:74534337:G:A Identity +NM_001161580.2:c.762G>A NP_001155052.1:p.Lys254= NC_000003.12:52138219:C:T p.(Lys254=) NC_000003.12:52138219:C:T p.(Lys254=) NC_000003.12:52138219:C:T Identity +NM_001193333.3:c.582C>A NP_001180262.1:p.Ser194= NC_000016.10:30187168:C:A p.(Ser194=) NC_000016.10:30187168:C:A p.(Ser194=) NC_000016.10:30187168:C:A Identity +NM_016239.4:c.8013G>A NP_057323.3:p.Thr2671= NC_000017.11:18153820:G:A p.(Thr2671=) NC_000017.11:18153820:G:A p.(Thr2671=) NC_000017.11:18153820:G:A Identity +NM_001195286.2:c.39C>T NP_001182215.1:p.Gly13= NC_000006.12:393190:C:T p.(Gly13=) NC_000006.12:393190:C:T p.(Gly13=) NC_000006.12:393190:C:T Identity +NM_032119.4:c.7470A>T NP_115495.3:p.Ala2490= NC_000005.10:90694225:A:T p.(Ala2490=) NC_000005.10:90694225:A:T p.(Ala2490=) NC_000005.10:90694225:A:T Identity +NM_000718.4:c.4876C>T NP_000709.1:p.Leu1626= NC_000009.12:138075836:C:T p.(Leu1626=) NC_000009.12:138075836:C:T p.(Leu1626=) NC_000009.12:138075836:C:T Identity +NM_003906.5:c.3189G>A NP_003897.2:p.Gln1063= NC_000021.9:46265365:C:T p.(Gln1063=) NC_000021.9:46265365:C:T p.(Gln1063=) NC_000021.9:46265365:C:T Identity +NM_006929.5:c.2484C>A NP_008860.4:p.Arg828= NC_000006.12:31967277:C:A p.(Arg828=) NC_000006.12:31967277:C:A p.(Arg828=) NC_000006.12:31967277:C:A Identity +NM_016239.4:c.2298G>T NP_057323.3:p.Arg766= NC_000017.11:18121097:G:T p.(Arg766=) NC_000017.11:18121097:G:T p.(Arg766=) NC_000017.11:18121097:G:T Identity +NM_000091.5:c.2775C>A NP_000082.2:p.Gly925= NC_000002.12:227284238:C:A p.(Gly925=) NC_000002.12:227284238:C:A p.(Gly925=) NC_000002.12:227284238:C:A Identity +NM_001271466.4:c.1095C>T NP_001258395.2:p.Leu365= NC_000002.12:231262373:C:T p.(Leu365=) NC_000002.12:231262373:C:T p.(Leu365=) NC_000002.12:231262373:C:T Identity +NM_001317163.2:c.4659A>T NP_001304092.1:p.Thr1553= NC_000009.12:120960284:T:A p.(Thr1553=) NC_000009.12:120960284:T:A p.(Thr1553=) NC_000009.12:120960284:T:A Identity +NM_001142966.3:c.3384G>A NP_001136438.1:p.Gly1128= NC_000018.10:21496690:G:A p.(Gly1128=) NC_000018.10:21496690:G:A p.(Gly1128=) NC_000018.10:21496690:G:A Identity +NM_000147.5:c.402G>A NP_000138.2:p.Leu134= NC_000001.11:23865612:C:T p.(Leu134=) NC_000001.11:23865612:C:T p.(Leu134=) NC_000001.11:23865612:C:T Identity +NM_001304481.2:c.1452C>T NP_001291410.1:p.Asn484= NC_000012.12:32611141:C:T p.(Asn484=) NC_000012.12:32611141:C:T p.(Asn484=) NC_000012.12:32611141:C:T Identity +NM_001367624.2:c.5382A>G NP_001354553.1:p.Glu1794= NC_000016.10:88432851:A:G p.(Glu1794=) NC_000016.10:88432851:A:G p.(Glu1794=) NC_000016.10:88432851:A:G Identity +NM_031935.3:c.3336T>A NP_114141.2:p.Thr1112= NC_000001.11:185990401:T:A p.(Thr1112=) NC_000001.11:185990401:T:A p.(Thr1112=) NC_000001.11:185990401:T:A Identity +NM_000495.5:c.618T>C NP_000486.1:p.Pro206= NC_000023.11:108577959:T:C p.(Pro206=) NC_000023.11:108577959:T:C p.(Pro206=) NC_000023.11:108577959:T:C Identity +NM_004523.4:c.312T>C NP_004514.2:p.Tyr104= NC_000010.11:92607161:T:C p.(Tyr104=) NC_000010.11:92607161:T:C p.(Tyr104=) NC_000010.11:92607161:T:C Identity +NM_000353.3:c.342C>T NP_000344.1:p.Gly114= NC_000016.10:71573604:G:A p.(Gly114=) NC_000016.10:71573604:G:A p.(Gly114=) NC_000016.10:71573604:G:A Identity +NM_000719.7:c.5304C>T NP_000710.5:p.Asn1768= NC_000012.12:2679655:C:T p.(Asn1768=) NC_000012.12:2679655:C:T p.(Asn1768=) NC_000012.12:2679655:C:T Identity +NM_004963.4:c.2757T>A NP_004954.2:p.Ile919= NC_000012.12:14621060:A:T p.(Ile919=) NC_000012.12:14621060:A:T p.(Ile919=) NC_000012.12:14621060:A:T Identity +NM_001366724.1:c.1767G>A NP_001353653.1:p.Gly589= NC_000012.12:66406421:C:T p.(Gly589=) NC_000012.12:66406421:C:T p.(Gly589=) NC_000012.12:66406421:C:T Identity +NM_000260.4:c.1815G>A NP_000251.3:p.Lys605= NC_000011.10:77172764:G:A p.(Lys605=) NC_000011.10:77172764:G:A p.(Lys605=) NC_000011.10:77172764:G:A Identity +NM_002949.4:c.105A>G NP_002940.2:p.Arg35= NC_000017.11:81704273:A:G p.(Arg35=) NC_000017.11:81704273:A:G p.(Arg35=) NC_000017.11:81704273:A:G Identity +NM_001166133.2:c.876G>C NP_001159605.1:p.Arg292= NC_000004.12:78267326:G:C p.(Arg292=) NC_000004.12:78267326:G:C p.(Arg292=) NC_000004.12:78267326:G:C Identity +NM_000550.3:c.1392T>C NP_000541.1:p.Tyr464= NC_000009.12:12708126:T:C p.(Tyr464=) NC_000009.12:12708126:T:C p.(Tyr464=) NC_000009.12:12708126:T:C Identity +NM_001367916.1:c.945T>C NP_001354845.1:p.Ser315= NC_000023.11:77830851:A:G p.(Ser315=) NC_000023.11:77830851:A:G p.(Ser315=) NC_000023.11:77830851:A:G Identity +NM_020232.5:c.645A>G NP_064617.2:p.Pro215= NC_000018.10:12724561:A:G p.(Pro215=) NC_000018.10:12724561:A:G p.(Pro215=) NC_000018.10:12724561:A:G Identity +NM_000057.4:c.1212G>C NP_000048.1:p.Arg404= NC_000015.10:90760270:G:C p.(Arg404=) NC_000015.10:90760270:G:C p.(Arg404=) NC_000015.10:90760270:G:C Identity +NM_001306079.2:c.1059T>C NP_001293008.1:p.Phe353= NC_000002.12:27223979:T:C p.(Phe353=) NC_000002.12:27223979:T:C p.(Phe353=) NC_000002.12:27223979:T:C Identity +NM_001737.5:c.909G>A NP_001728.1:p.Leu303= NC_000005.10:39311338:C:T p.(Leu303=) NC_000005.10:39311338:C:T p.(Leu303=) NC_000005.10:39311338:C:T Identity +NM_001039876.3:c.1038C>G NP_001034965.1:p.Pro346= NC_000019.10:36003513:G:C p.(Pro346=) NC_000019.10:36003513:G:C p.(Pro346=) NC_000019.10:36003513:G:C Identity +NM_001083116.3:c.1230G>A NP_001076585.1:p.Arg410= NC_000010.11:70598490:C:T p.(Arg410=) NC_000010.11:70598490:C:T p.(Arg410=) NC_000010.11:70598490:C:T Identity +NM_001303110.2:c.255A>G NP_001290039.1:p.Gly85= NC_000013.11:110213805:T:C p.(Gly85=) NC_000013.11:110213805:T:C p.(Gly85=) NC_000013.11:110213805:T:C Identity +NM_001304482.2:c.4044C>T NP_001291411.1:p.Ile1348= NC_000003.12:47412617:C:T p.(Ile1348=) NC_000003.12:47412617:C:T p.(Ile1348=) NC_000003.12:47412617:C:T Identity +NM_001363711.2:c.342C>G NP_001350640.1:p.Ser114= NC_000015.10:45111938:G:C p.(Ser114=) NC_000015.10:45111938:G:C p.(Ser114=) NC_000015.10:45111938:G:C Identity +NM_001411101.1:c.2943C>T NP_001398030.1:p.Ile981= NC_000017.11:82930523:C:T p.(Ile981=) NC_000017.11:82930523:C:T p.(Ile981=) NC_000017.11:82930523:C:T Identity +NM_006662.3:c.6525C>T NP_006653.2:p.Asn2175= NC_000016.10:30733923:C:T p.(Asn2175=) NC_000016.10:30733923:C:T p.(Asn2175=) NC_000016.10:30733923:C:T Identity +NM_001099952.4:c.5784C>T NP_001093422.2:p.Pro1928= NC_000003.12:4768712:C:T p.(Pro1928=) NC_000003.12:4768712:C:T p.(Pro1928=) NC_000003.12:4768712:C:T Identity +NM_001034116.2:c.336G>T NP_001029288.1:p.Arg112= NC_000002.12:27369087:C:A p.(Arg112=) NC_000002.12:27369087:C:A p.(Arg112=) NC_000002.12:27369087:C:A Identity +NM_000254.3:c.2487G>C NP_000245.2:p.Leu829= NC_000001.11:236874738:G:C p.(Leu829=) NC_000001.11:236874738:G:C p.(Leu829=) NC_000001.11:236874738:G:C Identity +NM_001374385.1:c.3729G>A NP_001361314.1:p.Ala1243= NC_000018.10:57648514:C:T p.(Ala1243=) NC_000018.10:57648514:C:T p.(Ala1243=) NC_000018.10:57648514:C:T Identity +NM_015346.4:c.5802C>T NP_056161.2:p.Ala1934= NC_000014.9:67766435:G:A p.(Ala1934=) NC_000014.9:67766435:G:A p.(Ala1934=) NC_000014.9:67766435:G:A Identity +NM_001425246.1:c.252C>T NP_001412175.1:p.Arg84= NC_000014.9:102928875:C:T p.(Arg84=) NC_000014.9:102928875:C:T p.(Arg84=) NC_000014.9:102928875:C:T Identity +NM_000350.3:c.1527C>T NP_000341.2:p.Thr509= NC_000001.11:94077716:G:A p.(Thr509=) NC_000001.11:94077716:G:A p.(Thr509=) NC_000001.11:94077716:G:A Identity +NM_007254.4:c.1161G>A NP_009185.2:p.Val387= NC_000019.10:49862070:C:T p.(Val387=) NC_000019.10:49862070:C:T p.(Val387=) NC_000019.10:49862070:C:T Identity +NM_032119.4:c.4065T>C NP_115495.3:p.Phe1355= NC_000005.10:90653638:T:C p.(Phe1355=) NC_000005.10:90653638:T:C p.(Phe1355=) NC_000005.10:90653638:T:C Identity +NM_001007204.1:c.2274C>G NP_001007205.1:p.Ala758= NC_000001.11:156881524:C:G ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_000023.4:c.645C>G NP_000014.1:p.Ser215= NC_000017.11:50169151:C:G p.(Ser215=) NC_000017.11:50169151:C:G p.(Ser215=) NC_000017.11:50169151:C:G Identity +NM_001079515.3:c.813T>C NP_001072983.1:p.Tyr271= NC_000001.11:235435819:T:C p.(Tyr271=) NC_000001.11:235435819:T:C p.(Tyr271=) NC_000001.11:235435819:T:C Identity +NM_001410876.1:c.838T>C NP_001397805.1:p.Leu280= NC_000006.12:35456335:T:C p.(Leu280=) NC_000006.12:35456335:T:C p.(Leu280=) NC_000006.12:35456335:T:C Identity +NM_001130144.3:c.3183C>T NP_001123616.1:p.Ala1061= NC_000011.10:65540305:G:A p.(Ala1061=) NC_000011.10:65540305:G:A p.(Ala1061=) NC_000011.10:65540305:G:A Identity +NM_001358921.2:c.963A>G NP_001345850.1:p.Leu321= NC_000004.12:83264351:T:C p.(Leu321=) NC_000004.12:83264351:T:C p.(Leu321=) NC_000004.12:83264351:T:C Identity +NM_052876.4:c.867C>A NP_443108.1:p.Gly289= NC_000019.10:13136073:C:A p.(Gly289=) NC_000019.10:13136073:C:A p.(Gly289=) NC_000019.10:13136073:C:A Identity +NM_001261427.3:c.60C>A NP_001248356.1:p.Thr20= NC_000002.12:11765582:C:A p.(Thr20=) NC_000002.12:11765582:C:A p.(Thr20=) NC_000002.12:11765582:C:A Identity +NM_001242957.3:c.1722C>T NP_001229886.1:p.Ser574= NC_000006.12:10770180:G:A p.(Ser574=) NC_000006.12:10770180:G:A p.(Ser574=) NC_000006.12:10770180:G:A Identity +NM_001410858.1:c.4401A>C NP_001397787.1:p.Thr1467= NC_000018.10:45904045:T:G p.(Thr1467=) NC_000018.10:45904045:T:G p.(Thr1467=) NC_000018.10:45904045:T:G Identity +NM_003907.3:c.2133A>G NP_003898.2:p.Lys711= NC_000003.12:184144909:A:G p.(Lys711=) NC_000003.12:184144909:A:G p.(Lys711=) NC_000003.12:184144909:A:G Identity +NM_025074.7:c.6144C>A NP_079350.5:p.Val2048= NC_000004.12:78448185:C:A p.(Val2048=) NC_000004.12:78448185:C:A p.(Val2048=) NC_000004.12:78448185:C:A Identity +NM_000466.3:c.168A>G NP_000457.1:p.Ala56= NC_000007.14:92522206:T:C p.(Ala56=) NC_000007.14:92522206:T:C p.(Ala56=) NC_000007.14:92522206:T:C Identity +NM_032119.4:c.16017A>G NP_115495.3:p.Ala5339= NC_000005.10:90811276:A:G p.(Ala5339=) NC_000005.10:90811276:A:G p.(Ala5339=) NC_000005.10:90811276:A:G Identity +NM_174916.3:c.5031G>A NP_777576.1:p.Leu1677= NC_000015.10:42950338:C:T p.(Leu1677=) NC_000015.10:42950338:C:T p.(Leu1677=) NC_000015.10:42950338:C:T Identity +NM_000369.5:c.2118C>T NP_000360.2:p.Tyr706= NC_000014.9:81144175:C:T p.(Tyr706=) NC_000014.9:81144175:C:T p.(Tyr706=) NC_000014.9:81144175:C:T Identity +NM_001128159.3:c.2229G>C NP_001121631.1:p.Val743= NC_000017.11:519924:C:G p.(Val743=) NC_000017.11:519924:C:G p.(Val743=) NC_000017.11:519924:C:G Identity +NM_021939.4:c.678A>G NP_068758.3:p.Arg226= NC_000017.11:41818477:A:G p.(Arg226=) NC_000017.11:41818477:A:G p.(Arg226=) NC_000017.11:41818477:A:G Identity +NM_001424108.1:c.1761T>G NP_001411037.1:p.Pro587= NC_000006.12:33177441:A:C p.(Pro587=) NC_000006.12:33177441:A:C p.(Pro587=) NC_000006.12:33177441:A:C Identity +NM_001363711.2:c.2355C>T NP_001350640.1:p.Ala785= NC_000015.10:45104344:G:A p.(Ala785=) NC_000015.10:45104344:G:A p.(Ala785=) NC_000015.10:45104344:G:A Identity +NM_000036.3:c.117C>T NP_000027.3:p.Ser39= NC_000001.11:114688658:G:A p.(Ser39=) NC_000001.11:114688658:G:A p.(Ser39=) NC_000001.11:114688658:G:A Identity +NM_001375291.1:c.2808T>C NP_001362220.1:p.Thr936= NC_000009.12:95972558:T:C p.(Thr936=) NC_000009.12:95972558:T:C p.(Thr936=) NC_000009.12:95972558:T:C Identity +NM_005908.4:c.225G>A NP_005899.3:p.Leu75= NC_000004.12:102726635:C:T p.(Leu75=) NC_000004.12:102726635:C:T p.(Leu75=) NC_000004.12:102726635:C:T Identity +NM_000231.3:c.804A>G NP_000222.2:p.Pro268= NC_000013.11:23324468:A:G p.(Pro268=) NC_000013.11:23324468:A:G p.(Pro268=) NC_000013.11:23324468:A:G Identity +NM_174916.3:c.3159C>T NP_777576.1:p.Asp1053= NC_000015.10:43015737:G:A p.(Asp1053=) NC_000015.10:43015737:G:A p.(Asp1053=) NC_000015.10:43015737:G:A Identity +NM_001322042.2:c.2199C>T NP_001308971.2:p.His733= NC_000008.11:6499913:C:T p.(His733=) NC_000008.11:6499913:C:T p.(His733=) NC_000008.11:6499913:C:T Identity +NM_001411087.1:c.1713G>A NP_001398016.1:p.Pro571= NC_000019.10:45037771:G:A p.(Pro571=) NC_000019.10:45037771:G:A p.(Pro571=) NC_000019.10:45037771:G:A Identity +NM_000183.3:c.588G>A NP_000174.1:p.Leu196= NC_000002.12:26278758:G:A p.(Leu196=) NC_000002.12:26278758:G:A p.(Leu196=) NC_000002.12:26278758:G:A Identity +NM_003482.4:c.12768C>G NP_003473.3:p.Leu4256= NC_000012.12:49031936:G:C p.(Leu4256=) NC_000012.12:49031936:G:C p.(Leu4256=) NC_000012.12:49031936:G:C Identity +NM_025081.3:c.1485G>A NP_079357.2:p.Pro495= NC_000014.9:24409278:G:A p.(Pro495=) NC_000014.9:24409278:G:A p.(Pro495=) NC_000014.9:24409278:G:A Identity +NM_003036.4:c.1653C>T NP_003027.1:p.Gly551= NC_000001.11:2304470:C:T p.(Gly551=) NC_000001.11:2304470:C:T p.(Gly551=) NC_000001.11:2304470:C:T Identity +NM_000275.3:c.66G>C NP_000266.2:p.Thr22= NC_000015.10:28081808:C:G p.(Thr22=) NC_000015.10:28081808:C:G p.(Thr22=) NC_000015.10:28081808:C:G Identity +NM_001080414.4:c.720C>T NP_001073883.2:p.Pro240= NC_000014.9:91339366:G:A p.(Pro240=) NC_000014.9:91339366:G:A p.(Pro240=) NC_000014.9:91339366:G:A Identity +NM_001080463.2:c.7773A>G NP_001073932.1:p.Pro2591= NC_000011.10:103197996:A:G p.(Pro2591=) NC_000011.10:103197996:A:G p.(Pro2591=) NC_000011.10:103197996:A:G Identity +NM_001320252.2:c.306G>A NP_001307181.1:p.Gln102= NC_000001.11:170552122:G:A p.(Gln102=) NC_000001.11:170552122:G:A p.(Gln102=) NC_000001.11:170552122:G:A Identity +NM_001018056.3:c.2037C>T NP_001018066.1:p.Ala679= NC_000009.12:2648742:C:T p.(Ala679=) NC_000009.12:2648742:C:T p.(Ala679=) NC_000009.12:2648742:C:T Identity +NM_001011649.3:c.1824G>A NP_001011649.1:p.Leu608= NC_000009.12:120471781:C:T p.(Leu608=) NC_000009.12:120471781:C:T p.(Leu608=) NC_000009.12:120471781:C:T Identity +NM_025009.5:c.441A>G NP_079285.2:p.Glu147= NC_000004.12:55954351:A:G p.(Glu147=) NC_000004.12:55954351:A:G p.(Glu147=) NC_000004.12:55954351:A:G Identity +NM_001271427.2:c.450A>G NP_001258356.1:p.Thr150= NC_000001.11:19242403:T:C p.(Thr150=) NC_000001.11:19242403:T:C p.(Thr150=) NC_000001.11:19242403:T:C Identity +NM_000289.6:c.1522C>T NP_000280.1:p.Leu508= NC_000012.12:48141934:C:T p.(Leu508=) NC_000012.12:48141934:C:T p.(Leu508=) NC_000012.12:48141934:C:T Identity +NM_212550.5:c.285C>T NP_997715.1:p.Gly95= NC_000019.10:45179580:C:T p.(Gly95=) NC_000019.10:45179580:C:T p.(Gly95=) NC_000019.10:45179580:C:T Identity +NM_032119.4:c.2829A>G NP_115495.3:p.Val943= NC_000005.10:90644799:A:G p.(Val943=) NC_000005.10:90644799:A:G p.(Val943=) NC_000005.10:90644799:A:G Identity +NM_005502.4:c.5571C>G NP_005493.2:p.Ala1857= NC_000009.12:104793235:G:C p.(Ala1857=) NC_000009.12:104793235:G:C p.(Ala1857=) NC_000009.12:104793235:G:C Identity +NM_000094.4:c.1776C>T NP_000085.1:p.Arg592= NC_000003.12:48590676:G:A p.(Arg592=) NC_000003.12:48590676:G:A p.(Arg592=) NC_000003.12:48590676:G:A Identity +NM_001308301.1:c.1086C>T NP_001295230.1:p.Tyr362= NC_000016.10:46712652:G:A p.(Tyr362=) NC_000016.10:46712652:G:A p.(Tyr362=) NC_000016.10:46712652:G:A Identity +NM_015909.4:c.927G>A NP_056993.2:p.Lys309= NC_000002.12:15504171:C:T p.(Lys309=) NC_000002.12:15504171:C:T p.(Lys309=) NC_000002.12:15504171:C:T Identity +NM_005245.4:c.3024G>A NP_005236.2:p.Lys1008= NC_000004.12:186706803:C:T p.(Lys1008=) NC_000004.12:186706803:C:T p.(Lys1008=) NC_000004.12:186706803:C:T Identity +NM_001164507.2:c.22779G>A NP_001157979.2:p.Glu7593= NC_000002.12:151518338:C:T p.(Glu7593=) NC_000002.12:151518338:C:T p.(Glu7593=) NC_000002.12:151518338:C:T Identity +NM_024685.4:c.2106C>T NP_078961.3:p.Asp702= NC_000012.12:76345878:G:A p.(Asp702=) NC_000012.12:76345878:G:A p.(Asp702=) NC_000012.12:76345878:G:A Identity +NM_015346.4:c.4575G>A NP_056161.2:p.Leu1525= NC_000014.9:67780339:C:T p.(Leu1525=) NC_000014.9:67780339:C:T p.(Leu1525=) NC_000014.9:67780339:C:T Identity +NM_001365999.1:c.1185G>A NP_001352928.1:p.Val395= NC_000001.11:43420246:G:A p.(Val395=) NC_000001.11:43420246:G:A p.(Val395=) NC_000001.11:43420246:G:A Identity +NM_001128159.3:c.1596C>T NP_001121631.1:p.Leu532= NC_000017.11:560533:G:A p.(Leu532=) NC_000017.11:560533:G:A p.(Leu532=) NC_000017.11:560533:G:A Identity +NM_001287489.2:c.3381G>C NP_001274418.1:p.Arg1127= NC_000002.12:26474017:C:G p.(Arg1127=) NC_000002.12:26474017:C:G p.(Arg1127=) NC_000002.12:26474017:C:G Identity +NM_024101.7:c.1023C>T NP_077006.1:p.Ile341= NC_000002.12:237534565:C:T p.(Ile341=) NC_000002.12:237534565:C:T p.(Ile341=) NC_000002.12:237534565:C:T Identity +NM_000163.5:c.675A>G NP_000154.1:p.Glu225= NC_000005.10:42711262:A:G p.(Glu225=) NC_000005.10:42711262:A:G p.(Glu225=) NC_000005.10:42711262:A:G Identity +NM_001018115.3:c.777A>G NP_001018125.1:p.Leu259= NC_000003.12:10041703:A:G p.(Leu259=) NC_000003.12:10041703:A:G p.(Leu259=) NC_000003.12:10041703:A:G Identity +NM_001142800.2:c.4755A>T NP_001136272.1:p.Thr1585= NC_000006.12:64591111:T:A p.(Thr1585=) NC_000006.12:64591111:T:A p.(Thr1585=) NC_000006.12:64591111:T:A Identity +NM_001113378.2:c.1713T>C NP_001106849.1:p.Val571= NC_000015.10:89285109:T:C p.(Val571=) NC_000015.10:89285109:T:C p.(Val571=) NC_000015.10:89285109:T:C Identity +NM_001199.4:c.1197C>T NP_001190.1:p.Ser399= NC_000008.11:22194073:C:T p.(Ser399=) NC_000008.11:22194073:C:T p.(Ser399=) NC_000008.11:22194073:C:T Identity +NM_016239.4:c.3150C>T NP_057323.3:p.Val1050= NC_000017.11:18121949:C:T p.(Val1050=) NC_000017.11:18121949:C:T p.(Val1050=) NC_000017.11:18121949:C:T Identity +NM_000027.4:c.879C>T NP_000018.2:p.Ile293= NC_000004.12:177433274:G:A p.(Ile293=) NC_000004.12:177433274:G:A p.(Ile293=) NC_000004.12:177433274:G:A Identity +NM_006766.5:c.5943C>T NP_006757.2:p.Pro1981= NC_000008.11:41932276:G:A p.(Pro1981=) NC_000008.11:41932276:G:A p.(Pro1981=) NC_000008.11:41932276:G:A Identity +NM_001033053.3:c.483A>G NP_001028225.1:p.Pro161= NC_000017.11:5582027:T:C p.(Pro161=) NC_000017.11:5582027:T:C p.(Pro161=) NC_000017.11:5582027:T:C Identity +NM_000094.4:c.8013G>C NP_000085.1:p.Gly2671= NC_000003.12:48567606:C:G p.(Gly2671=) NC_000003.12:48567606:C:G p.(Gly2671=) NC_000003.12:48567606:C:G Identity +NM_001324112.2:c.12A>G NP_001311041.1:p.Glu4= NC_000008.11:64798575:T:C p.(Glu4=) NC_000008.11:64798575:T:C p.(Glu4=) NC_000008.11:64798575:T:C Identity +NM_001166133.2:c.1449C>T NP_001159605.1:p.Ser483= NC_000004.12:78286453:C:T p.(Ser483=) NC_000004.12:78286453:C:T p.(Ser483=) NC_000004.12:78286453:C:T Identity +NM_000163.5:c.288A>G NP_000154.1:p.Gln96= NC_000005.10:42694937:A:G p.(Gln96=) NC_000005.10:42694937:A:G p.(Gln96=) NC_000005.10:42694937:A:G Identity +NM_001291285.3:c.11160C>A NP_001278214.1:p.Gly3720= NC_000004.12:125452169:C:A p.(Gly3720=) NC_000004.12:125452169:C:A p.(Gly3720=) NC_000004.12:125452169:C:A Identity +NM_002796.3:c.39G>A NP_002787.2:p.Ala13= NC_000001.11:151399625:G:A p.(Ala13=) NC_000001.11:151399625:G:A p.(Ala13=) NC_000001.11:151399625:G:A Identity +NM_005198.5:c.9C>T NP_005189.2:p.Ala3= NC_000022.11:50582772:G:A p.(Ala3=) NC_000022.11:50582772:G:A p.(Ala3=) NC_000022.11:50582772:G:A Identity +NM_022166.4:c.2566C>T NP_071449.1:p.Leu856= NC_000016.10:17109008:G:A p.(Leu856=) NC_000016.10:17109008:G:A p.(Leu856=) NC_000016.10:17109008:G:A Identity +NM_014003.4:c.3348C>T NP_054722.2:p.Tyr1116= NC_000016.10:72108891:C:T p.(Tyr1116=) NC_000016.10:72108891:C:T p.(Tyr1116=) NC_000016.10:72108891:C:T Identity +NM_000494.4:c.3915C>T NP_000485.3:p.Ser1305= NC_000010.11:104034185:G:A p.(Ser1305=) NC_000010.11:104034185:G:A p.(Ser1305=) NC_000010.11:104034185:G:A Identity +NM_001375.3:c.174C>T NP_001366.1:p.Ser58= NC_000019.10:12881064:G:A p.(Ser58=) NC_000019.10:12881064:G:A p.(Ser58=) NC_000019.10:12881064:G:A Identity +NM_001278359.2:c.99C>T NP_001265288.1:p.Tyr33= NC_000004.12:40243484:C:T p.(Tyr33=) NC_000004.12:40243484:C:T p.(Tyr33=) NC_000004.12:40243484:C:T Identity +NM_001018037.2:c.5778T>C NP_001018047.1:p.Thr1926= NC_000009.12:77323130:T:C p.(Thr1926=) NC_000009.12:77323130:T:C p.(Thr1926=) NC_000009.12:77323130:T:C Identity +NM_001845.6:c.4441C>A NP_001836.3:p.Arg1481= NC_000013.11:110162250:G:T p.(Arg1481=) NC_000013.11:110162250:G:T p.(Arg1481=) NC_000013.11:110162250:G:T Identity +NM_032119.4:c.14877T>C NP_115495.3:p.Val4959= NC_000005.10:90807641:T:C p.(Val4959=) NC_000005.10:90807641:T:C p.(Val4959=) NC_000005.10:90807641:T:C Identity +NM_000335.5:c.2106G>C NP_000326.2:p.Leu702= NC_000003.12:38597884:C:G p.(Leu702=) NC_000003.12:38597884:C:G p.(Leu702=) NC_000003.12:38597884:C:G Identity +NM_032119.4:c.11007G>A NP_115495.3:p.Glu3669= NC_000005.10:90750582:G:A p.(Glu3669=) NC_000005.10:90750582:G:A p.(Glu3669=) NC_000005.10:90750582:G:A Identity +NM_000163.5:c.969C>T NP_000154.1:p.Asn323= NC_000005.10:42718475:C:T p.(Asn323=) NC_000005.10:42718475:C:T p.(Asn323=) NC_000005.10:42718475:C:T Identity +NM_000443.4:c.1665G>A NP_000434.1:p.Leu555= NC_000007.14:87439732:C:T p.(Leu555=) NC_000007.14:87439732:C:T p.(Leu555=) NC_000007.14:87439732:C:T Identity +NM_001012720.2:c.201G>C NP_001012738.1:p.Leu67= NC_000010.11:84247711:G:C p.(Leu67=) NC_000010.11:84247711:G:C p.(Leu67=) NC_000010.11:84247711:G:C Identity +NM_001127231.3:c.1713T>G NP_001120703.1:p.Val571= NC_000007.14:70768046:T:G p.(Val571=) NC_000007.14:70768046:T:G p.(Val571=) NC_000007.14:70768046:T:G Identity +NM_001329903.2:c.657A>G NP_001316832.1:p.Thr219= NC_000017.11:1775070:A:G p.(Thr219=) NC_000017.11:1775070:A:G p.(Thr219=) NC_000017.11:1775070:A:G Identity +NM_001289067.2:c.1791T>G NP_001275996.1:p.Pro597= NC_000010.11:94590661:T:G p.(Pro597=) NC_000010.11:94590661:T:G p.(Pro597=) NC_000010.11:94590661:T:G Identity +NM_001136504.1:c.225G>A NP_001129976.1:p.Leu75= NC_000001.11:202604574:C:T p.(Leu75=) NC_000001.11:202604574:C:T p.(Leu75=) NC_000001.11:202604574:C:T Identity +NM_001320923.2:c.729T>C NP_001307852.1:p.Val243= NC_000001.11:64867126:A:G p.(Val243=) NC_000001.11:64867126:A:G p.(Val243=) NC_000001.11:64867126:A:G Identity +NM_001080442.3:c.222C>T NP_001073911.1:p.Val74= NC_000016.10:84036867:G:A p.(Val74=) NC_000016.10:84036867:G:A p.(Val74=) NC_000016.10:84036867:G:A Identity +NM_174916.3:c.1335G>C NP_777576.1:p.Leu445= NC_000015.10:43054845:C:G p.(Leu445=) NC_000015.10:43054845:C:G p.(Leu445=) NC_000015.10:43054845:C:G Identity +NM_001316690.1:c.747G>A NP_001303619.1:p.Leu249= NC_000008.11:60742178:G:A p.(Leu249=) NC_000008.11:60742178:G:A p.(Leu249=) NC_000008.11:60742178:G:A Identity +NM_001282782.2:c.232C>T NP_001269711.1:p.Leu78= NC_000022.11:46350385:C:T p.(Leu78=) NC_000022.11:46350385:C:T p.(Leu78=) NC_000022.11:46350385:C:T Identity +NM_001127713.1:c.1485G>C NP_001121185.1:p.Arg495= NC_000014.9:50628395:G:C p.(Arg495=) NC_000014.9:50628395:G:C p.(Arg495=) NC_000014.9:50628395:G:C Identity +NM_001166226.2:c.1335A>C NP_001159698.1:p.Pro445= NC_000005.10:123388448:T:G p.(Pro445=) NC_000005.10:123388448:T:G p.(Pro445=) NC_000005.10:123388448:T:G Identity +NM_001069.3:c.1140C>T NP_001060.1:p.Arg380= NC_000006.12:3154060:G:A p.(Arg380=) NC_000006.12:3154060:G:A p.(Arg380=) NC_000006.12:3154060:G:A Identity +NM_174916.3:c.1800A>G NP_777576.1:p.Val600= NC_000015.10:43043263:T:C p.(Val600=) NC_000015.10:43043263:T:C p.(Val600=) NC_000015.10:43043263:T:C Identity +NM_000181.4:c.954C>T NP_000172.2:p.Asp318= NC_000007.14:65975029:G:A p.(Asp318=) NC_000007.14:65975029:G:A p.(Asp318=) NC_000007.14:65975029:G:A Identity +NM_000338.3:c.2832T>C NP_000329.2:p.Tyr944= NC_000015.10:48288474:T:C p.(Tyr944=) NC_000015.10:48288474:T:C p.(Tyr944=) NC_000015.10:48288474:T:C Identity +NM_033109.5:c.2133A>G NP_149100.2:p.Gln711= NC_000002.12:55640641:T:C p.(Gln711=) NC_000002.12:55640641:T:C p.(Gln711=) NC_000002.12:55640641:T:C Identity +NM_001081640.2:c.5511A>G NP_001075109.1:p.Arg1837= NC_000008.11:47864615:T:C p.(Arg1837=) NC_000008.11:47864615:T:C p.(Arg1837=) NC_000008.11:47864615:T:C Identity +NM_000153.4:c.1203T>C NP_000144.2:p.Tyr401= NC_000014.9:87950706:A:G p.(Tyr401=) NC_000014.9:87950706:A:G p.(Tyr401=) NC_000014.9:87950706:A:G Identity +NM_004482.4:c.462A>G NP_004473.2:p.Ala154= NC_000002.12:165770238:T:C p.(Ala154=) NC_000002.12:165770238:T:C p.(Ala154=) NC_000002.12:165770238:T:C Identity +NM_000152.5:c.2226C>T NP_000143.2:p.His742= NC_000017.11:80117003:C:T p.(His742=) NC_000017.11:80117003:C:T p.(His742=) NC_000017.11:80117003:C:T Identity +NM_001008738.3:c.2706A>G NP_001008738.3:p.Glu902= NC_000005.10:131671653:T:C p.(Glu902=) NC_000005.10:131671653:T:C p.(Glu902=) NC_000005.10:131671653:T:C Identity +NM_005334.3:c.2325G>C NP_005325.2:p.Ser775= NC_000023.11:153957341:C:G p.(Ser775=) NC_000023.11:153957341:C:G p.(Ser775=) NC_000023.11:153957341:C:G Identity +NM_006031.6:c.21G>A NP_006022.3:p.Gln7= NC_000021.9:46324248:G:A p.(Gln7=) NC_000021.9:46324248:G:A p.(Gln7=) NC_000021.9:46324248:G:A Identity +NM_018714.3:c.2562G>A NP_061184.1:p.Leu854= NC_000017.11:73206204:G:A p.(Leu854=) NC_000017.11:73206204:G:A p.(Leu854=) NC_000017.11:73206204:G:A Identity +NM_001942.4:c.859T>C NP_001933.2:p.Leu287= NC_000018.10:31334055:T:C p.(Leu287=) NC_000018.10:31334055:T:C p.(Leu287=) NC_000018.10:31334055:T:C Identity +NM_024656.4:c.1311C>T NP_078932.2:p.Asp437= NC_000019.10:17579525:C:T p.(Asp437=) NC_000019.10:17579525:C:T p.(Asp437=) NC_000019.10:17579525:C:T Identity +NM_000781.3:c.762G>C NP_000772.2:p.Leu254= NC_000015.10:74343855:C:G p.(Leu254=) NC_000015.10:74343855:C:G p.(Leu254=) NC_000015.10:74343855:C:G Identity +NM_001190818.2:c.991A>C NP_001177747.1:p.Arg331= NC_000001.11:52393533:T:G p.(Arg331=) NC_000001.11:52393533:T:G p.(Arg331=) NC_000001.11:52393533:T:G Identity +NM_173546.3:c.603A>C NP_775817.1:p.Thr201= NC_000003.12:49174802:A:C p.(Thr201=) NC_000003.12:49174802:A:C p.(Thr201=) NC_000003.12:49174802:A:C Identity +NM_001371411.1:c.870A>C NP_001358340.1:p.Ala290= NC_000002.12:227698844:T:G p.(Ala290=) NC_000002.12:227698844:T:G p.(Ala290=) NC_000002.12:227698844:T:G Identity +NM_000565.4:c.144G>C NP_000556.1:p.Pro48= NC_000001.11:154429253:G:C p.(Pro48=) NC_000001.11:154429253:G:C p.(Pro48=) NC_000001.11:154429253:G:C Identity +NM_001002269.2:c.249C>T NP_001002269.1:p.Cys83= NC_000009.12:37784795:G:A p.(Cys83=) NC_000009.12:37784795:G:A p.(Cys83=) NC_000009.12:37784795:G:A Identity +NM_030943.4:c.105C>T NP_112205.2:p.Asn35= NC_000014.9:102923771:C:T p.(Asn35=) NC_000014.9:102923771:C:T p.(Asn35=) NC_000014.9:102923771:C:T Identity +NM_021939.4:c.399C>T NP_068758.3:p.Leu133= NC_000017.11:41818095:C:T p.(Leu133=) NC_000017.11:41818095:C:T p.(Leu133=) NC_000017.11:41818095:C:T Identity +NM_000382.3:c.90G>A NP_000373.1:p.Leu30= NC_000017.11:19649060:G:A p.(Leu30=) NC_000017.11:19649060:G:A p.(Leu30=) NC_000017.11:19649060:G:A Identity +NM_030773.4:c.942C>G NP_110400.1:p.Ala314= NC_000020.11:59024368:C:G p.(Ala314=) NC_000020.11:59024368:C:G p.(Ala314=) NC_000020.11:59024368:C:G Identity +NM_001001523.2:c.858C>T NP_001001523.1:p.Gly286= NC_000001.11:151814585:G:A p.(Gly286=) NC_000001.11:151814585:G:A p.(Gly286=) NC_000001.11:151814585:G:A Identity +NM_000227.6:c.4215G>A NP_000218.3:p.Val1405= NC_000018.10:23943802:G:A p.(Val1405=) NC_000018.10:23943802:G:A p.(Val1405=) NC_000018.10:23943802:G:A Identity +NM_001195573.1:c.237A>G NP_001182502.1:p.Lys79= NC_000014.9:95132584:T:C p.(Lys79=) NC_000014.9:95132584:T:C p.(Lys79=) NC_000014.9:95132584:T:C Identity +NM_001127396.3:c.1737A>G NP_001120868.1:p.Ala579= NC_000019.10:7647773:A:G p.(Ala579=) NC_000019.10:7647773:A:G p.(Ala579=) NC_000019.10:7647773:A:G Identity +NM_001083116.3:c.219C>T NP_001076585.1:p.Cys73= NC_000010.11:70600683:G:A p.(Cys73=) NC_000010.11:70600683:G:A p.(Cys73=) NC_000010.11:70600683:G:A Identity +NM_001411101.1:c.3471G>A NP_001398030.1:p.Leu1157= NC_000017.11:82941440:G:A p.(Leu1157=) NC_000017.11:82941440:G:A p.(Leu1157=) NC_000017.11:82941440:G:A Identity +NM_173354.5:c.33C>A NP_775490.2:p.Pro11= NC_000021.9:43426145:G:T p.(Pro11=) NC_000021.9:43426145:G:T p.(Pro11=) NC_000021.9:43426145:G:T Identity +NM_001127244.2:c.1605C>T NP_001120716.1:p.Ile535= NC_000009.12:128908768:C:T p.(Ile535=) NC_000009.12:128908768:C:T p.(Ile535=) NC_000009.12:128908768:C:T Identity +NM_001130865.3:c.156C>T NP_001124337.1:p.Asp52= NC_000009.12:1051768:C:T p.(Asp52=) NC_000009.12:1051768:C:T p.(Asp52=) NC_000009.12:1051768:C:T Identity +NM_001411101.1:c.954T>G NP_001398030.1:p.Gly318= NC_000017.11:82805928:T:G p.(Gly318=) NC_000017.11:82805928:T:G p.(Gly318=) NC_000017.11:82805928:T:G Identity +NM_032888.4:c.2160C>G NP_116277.2:p.Pro720= NC_000009.12:114205136:C:G p.(Pro720=) NC_000009.12:114205136:C:G p.(Pro720=) NC_000009.12:114205136:C:G Identity +NM_001128602.2:c.1893G>A NP_001122074.1:p.Arg631= NC_000015.10:38494642:C:T p.(Arg631=) NC_000015.10:38494642:C:T p.(Arg631=) NC_000015.10:38494642:C:T Identity +NM_000108.5:c.585A>T NP_000099.2:p.Ile195= NC_000007.14:107906268:A:T p.(Ile195=) NC_000007.14:107906268:A:T p.(Ile195=) NC_000007.14:107906268:A:T Identity +NM_000350.3:c.687G>A NP_000341.2:p.Leu229= NC_000001.11:94098874:C:T p.(Leu229=) NC_000001.11:94098874:C:T p.(Leu229=) NC_000001.11:94098874:C:T Identity +NM_001169109.2:c.390C>T NP_001162580.1:p.Phe130= NC_000022.11:50524021:G:A p.(Phe130=) NC_000022.11:50524021:G:A p.(Phe130=) NC_000022.11:50524021:G:A Identity +NM_001453.3:c.39G>A NP_001444.2:p.Leu13= NC_000006.12:1610483:G:A p.(Leu13=) NC_000006.12:1610483:G:A p.(Leu13=) NC_000006.12:1610483:G:A Identity +NM_001367624.2:c.657C>G NP_001354553.1:p.Leu219= NC_000016.10:88428126:C:G p.(Leu219=) NC_000016.10:88428126:C:G p.(Leu219=) NC_000016.10:88428126:C:G Identity +NM_001130455.2:c.3972G>A NP_001123927.1:p.Gln1324= NC_000002.12:71611309:G:A p.(Gln1324=) NC_000002.12:71611309:G:A p.(Gln1324=) NC_000002.12:71611309:G:A Identity +NM_005120.3:c.15G>C NP_005111.2:p.Gly5= NC_000023.11:71118768:G:C p.(Gly5=) NC_000023.11:71118768:G:C p.(Gly5=) NC_000023.11:71118768:G:C Identity +NM_001873.4:c.1263T>G NP_001864.1:p.Leu421= NC_000004.12:165495607:T:G p.(Leu421=) NC_000004.12:165495607:T:G p.(Leu421=) NC_000004.12:165495607:T:G Identity +NM_001317061.3:c.993A>C NP_001303990.1:p.Pro331= NC_000006.12:3105956:A:C p.(Pro331=) NC_000006.12:3105956:A:C p.(Pro331=) NC_000006.12:3105956:A:C Identity +NM_001371986.1:c.3564G>A NP_001358915.1:p.Leu1188= NC_000002.12:209849559:G:A p.(Leu1188=) NC_000002.12:209849559:G:A p.(Leu1188=) NC_000002.12:209849559:G:A Identity +NM_001178074.2:c.1015C>A NP_001171545.1:p.Arg339= NC_000012.12:66462950:G:T p.(Arg339=) NC_000012.12:66462950:G:T p.(Arg339=) NC_000012.12:66462950:G:T Identity +NM_001042572.3:c.1380C>T NP_001036037.1:p.Ala460= NC_000015.10:92948953:C:T p.(Ala460=) NC_000015.10:92948953:C:T p.(Ala460=) NC_000015.10:92948953:C:T Identity +NM_032119.4:c.17232A>G NP_115495.3:p.Pro5744= NC_000005.10:90853310:A:G p.(Pro5744=) NC_000005.10:90853310:A:G p.(Pro5744=) NC_000005.10:90853310:A:G Identity +NM_001378628.1:c.756A>G NP_001365557.1:p.Ala252= NC_000022.11:33564878:T:C p.(Ala252=) NC_000022.11:33564878:T:C p.(Ala252=) NC_000022.11:33564878:T:C Identity +NM_000426.4:c.5955A>G NP_000417.3:p.Ala1985= NC_000006.12:129427840:A:G p.(Ala1985=) NC_000006.12:129427840:A:G p.(Ala1985=) NC_000006.12:129427840:A:G Identity +NM_015425.6:c.639C>G NP_056240.2:p.Ser213= NC_000002.12:86088656:G:C p.(Ser213=) NC_000002.12:86088656:G:C p.(Ser213=) NC_000002.12:86088656:G:C Identity +NM_012096.3:c.1050A>G NP_036228.1:p.Lys350= NC_000003.12:57249545:A:G p.(Lys350=) NC_000003.12:57249545:A:G p.(Lys350=) NC_000003.12:57249545:A:G Identity +NM_001256182.2:c.909A>G NP_001243111.1:p.Glu303= NC_000016.10:89285632:T:C p.(Glu303=) NC_000016.10:89285632:T:C p.(Glu303=) NC_000016.10:89285632:T:C Identity +NM_000094.4:c.8271G>C NP_000085.1:p.Gly2757= NC_000003.12:48566692:C:G p.(Gly2757=) NC_000003.12:48566692:C:G p.(Gly2757=) NC_000003.12:48566692:C:G Identity +NM_001287489.2:c.87C>T NP_001274418.1:p.Ser29= NC_000002.12:26537766:G:A p.(Ser29=) NC_000002.12:26537766:G:A p.(Ser29=) NC_000002.12:26537766:G:A Identity +NM_000081.4:c.5835A>G NP_000072.2:p.Ala1945= NC_000001.11:235770246:T:C p.(Ala1945=) NC_000001.11:235770246:T:C p.(Ala1945=) NC_000001.11:235770246:T:C Identity +NM_001083116.3:c.429G>C NP_001076585.1:p.Val143= NC_000010.11:70600473:C:G p.(Val143=) NC_000010.11:70600473:C:G p.(Val143=) NC_000010.11:70600473:C:G Identity +NM_001844.5:c.3783C>T NP_001835.3:p.Ser1261= NC_000012.12:47975419:G:A p.(Ser1261=) NC_000012.12:47975419:G:A p.(Ser1261=) NC_000012.12:47975419:G:A Identity +NM_000084.5:c.921del NP_000075.1:p.Phe306_Tyr307insTer NC_000023.11:50086443:T: p.(Tyr307Ter) NC_000023.11:50086443:T: p.(Tyr307Ter) NC_000023.11:50086443:T: Analogous +NM_001008537.3:c.3600C>T NP_001008537.1:p.Ser1200= NC_000023.11:74740956:G:A p.(Ser1200=) NC_000023.11:74740956:G:A p.(Ser1200=) NC_000023.11:74740956:G:A Identity +NM_206933.4:c.10098G>A NP_996816.3:p.Lys3366= NC_000001.11:215790142:C:T p.(Lys3366=) NC_000001.11:215790142:C:T p.(Lys3366=) NC_000001.11:215790142:C:T Identity +NM_001252043.2:c.1419C>T NP_001238972.1:p.Ser473= NC_000016.10:29983660:C:T p.(Ser473=) NC_000016.10:29983660:C:T p.(Ser473=) NC_000016.10:29983660:C:T Identity +NM_001167961.2:c.177G>T NP_001161433.1:p.Gly59= NC_000007.14:66633306:G:T p.(Gly59=) NC_000007.14:66633306:G:T p.(Gly59=) NC_000007.14:66633306:G:T Identity +NM_021939.4:c.1569C>A NP_068758.3:p.Ser523= NC_000017.11:41822227:C:A p.(Ser523=) NC_000017.11:41822227:C:A p.(Ser523=) NC_000017.11:41822227:C:A Identity +NM_000104.4:c.663C>T NP_000095.2:p.Phe221= NC_000002.12:38074725:G:A p.(Phe221=) NC_000002.12:38074725:G:A p.(Phe221=) NC_000002.12:38074725:G:A Identity +NM_021957.4:c.1335G>A NP_068776.2:p.Thr445= NC_000012.12:21558286:C:T p.(Thr445=) NC_000012.12:21558286:C:T p.(Thr445=) NC_000012.12:21558286:C:T Identity +NM_000456.3:c.162A>T NP_000447.2:p.Gly54= NC_000012.12:56002653:A:T p.(Gly54=) NC_000012.12:56002653:A:T p.(Gly54=) NC_000012.12:56002653:A:T Identity +NM_001128844.3:c.540C>G NP_001122316.1:p.Leu180= NC_000019.10:10986372:C:G p.(Leu180=) NC_000019.10:10986372:C:G p.(Leu180=) NC_000019.10:10986372:C:G Identity +NM_032601.4:c.205C>T NP_115990.3:p.Leu69= NC_000002.12:71124378:G:A p.(Leu69=) NC_000002.12:71124378:G:A p.(Leu69=) NC_000002.12:71124378:G:A Identity +NM_001195010.2:c.210C>T NP_001181939.1:p.Asn70= NC_000001.11:24336562:C:T p.(Asn70=) NC_000001.11:24336562:C:T p.(Asn70=) NC_000001.11:24336562:C:T Identity +NM_001351059.2:c.66C>G NP_001337988.1:p.Ala22= NC_000011.10:68044283:C:G p.(Ala22=) NC_000011.10:68044283:C:G p.(Ala22=) NC_000011.10:68044283:C:G Identity +NM_001363746.1:c.438C>T NP_001350675.1:p.Ala146= NC_000009.12:136199042:G:A p.(Ala146=) NC_000009.12:136199042:G:A p.(Ala146=) NC_000009.12:136199042:G:A Identity +NM_174916.3:c.3675T>G NP_777576.1:p.Ala1225= NC_000015.10:42998249:A:C p.(Ala1225=) NC_000015.10:42998249:A:C p.(Ala1225=) NC_000015.10:42998249:A:C Identity +NM_000721.4:c.5802A>C NP_000712.2:p.Gly1934= NC_000001.11:181790459:A:C p.(Gly1934=) NC_000001.11:181790459:A:C p.(Gly1934=) NC_000001.11:181790459:A:C Identity +NM_001349370.3:c.864A>G NP_001336299.1:p.Ser288= NC_000003.12:47123639:T:C p.(Ser288=) NC_000003.12:47123639:T:C p.(Ser288=) NC_000003.12:47123639:T:C Identity +NM_001321431.2:c.3900C>T NP_001308360.1:p.Ile1300= NC_000019.10:8112037:G:A p.(Ile1300=) NC_000019.10:8112037:G:A p.(Ile1300=) NC_000019.10:8112037:G:A Identity +NM_005562.3:c.1476C>T NP_005553.2:p.Arg492= NC_000001.11:183228380:C:T p.(Arg492=) NC_000001.11:183228380:C:T p.(Arg492=) NC_000001.11:183228380:C:T Identity +NM_003954.5:c.1761G>T NP_003945.2:p.Leu587= NC_000017.11:45271117:C:A p.(Leu587=) NC_000017.11:45271117:C:A p.(Leu587=) NC_000017.11:45271117:C:A Identity +NM_000528.4:c.2569C>A NP_000519.2:p.Arg857= NC_000019.10:12648269:G:T p.(Arg857=) NC_000019.10:12648269:G:T p.(Arg857=) NC_000019.10:12648269:G:T Identity +NM_138477.4:c.3321A>G NP_612486.2:p.Arg1107= NC_000015.10:42725617:T:C p.(Arg1107=) NC_000015.10:42725617:T:C p.(Arg1107=) NC_000015.10:42725617:T:C Identity +NM_001004426.3:c.1161A>T NP_001004426.1:p.Thr387= NC_000022.11:38129478:T:A p.(Thr387=) NC_000022.11:38129478:T:A p.(Thr387=) NC_000022.11:38129478:T:A Identity +NM_001290185.2:c.1557C>T NP_001277114.1:p.Ala519= NC_000011.10:119077891:C:T p.(Ala519=) NC_000011.10:119077891:C:T p.(Ala519=) NC_000011.10:119077891:C:T Identity +NM_000310.4:c.582G>A NP_000301.1:p.Val194= NC_000001.11:40080441:C:T p.(Val194=) NC_000001.11:40080441:C:T p.(Val194=) NC_000001.11:40080441:C:T Identity +NM_138691.3:c.87A>G NP_619636.2:p.Glu29= NC_000009.12:72694564:A:G p.(Glu29=) NC_000009.12:72694564:A:G p.(Glu29=) NC_000009.12:72694564:A:G Identity +NM_000163.5:c.34C>T NP_000154.1:p.Leu12= NC_000005.10:42565907:C:T p.(Leu12=) NC_000005.10:42565907:C:T p.(Leu12=) NC_000005.10:42565907:C:T Identity +NM_015346.4:c.5724G>A NP_056161.2:p.Val1908= NC_000014.9:67767769:C:T p.(Val1908=) NC_000014.9:67767769:C:T p.(Val1908=) NC_000014.9:67767769:C:T Identity +NM_001142805.2:c.501G>A NP_001136277.1:p.Leu167= NC_000023.11:153691409:G:A p.(Leu167=) NC_000023.11:153691409:G:A p.(Leu167=) NC_000023.11:153691409:G:A Identity +NM_001198557.2:c.378T>C NP_001185486.1:p.Arg126= NC_000005.10:126818989:T:C p.(Arg126=) NC_000005.10:126818989:T:C p.(Arg126=) NC_000005.10:126818989:T:C Identity +NM_000054.7:c.904C>T NP_000045.1:p.Leu302= NC_000023.11:153906409:C:T p.(Leu302=) NC_000023.11:153906409:C:T p.(Leu302=) NC_000023.11:153906409:C:T Identity +NM_001163817.2:c.573C>T NP_001157289.1:p.Val191= NC_000011.10:71441279:G:A p.(Val191=) NC_000011.10:71441279:G:A p.(Val191=) NC_000011.10:71441279:G:A Identity +NM_001077516.2:c.873A>G NP_001070984.1:p.Gly291= NC_000006.12:33202632:A:G p.(Gly291=) NC_000006.12:33202632:A:G p.(Gly291=) NC_000006.12:33202632:A:G Identity +NM_001290185.2:c.315C>T NP_001277114.1:p.Ile105= NC_000011.10:119069449:C:T p.(Ile105=) NC_000011.10:119069449:C:T p.(Ile105=) NC_000011.10:119069449:C:T Identity +NM_000456.3:c.711A>C NP_000447.2:p.Ala237= NC_000012.12:56004099:A:C p.(Ala237=) NC_000012.12:56004099:A:C p.(Ala237=) NC_000012.12:56004099:A:C Identity +NM_001378454.1:c.12057C>T NP_001365383.1:p.Gly4019= NC_000002.12:73601378:C:T p.(Gly4019=) NC_000002.12:73601378:C:T p.(Gly4019=) NC_000002.12:73601378:C:T Identity +NM_001284351.3:c.1299G>A NP_001271280.1:p.Glu433= NC_000005.10:482604:C:T p.(Glu433=) NC_000005.10:482604:C:T p.(Glu433=) NC_000005.10:482604:C:T Identity +NM_006915.3:c.297C>T NP_008846.2:p.Ser99= NC_000023.11:46853669:C:T p.(Ser99=) NC_000023.11:46853669:C:T p.(Ser99=) NC_000023.11:46853669:C:T Identity +NM_001281768.2:c.897C>T NP_001268697.1:p.Phe299= NC_000007.14:45662180:C:T p.(Phe299=) NC_000007.14:45662180:C:T p.(Phe299=) NC_000007.14:45662180:C:T Identity +NM_000271.5:c.2442G>A NP_000262.2:p.Glu814= NC_000018.10:23541139:C:T p.(Glu814=) NC_000018.10:23541139:C:T p.(Glu814=) NC_000018.10:23541139:C:T Identity +NM_000540.3:c.4827C>T NP_000531.2:p.Asn1609= NC_000019.10:38483408:C:T p.(Asn1609=) NC_000019.10:38483408:C:T p.(Asn1609=) NC_000019.10:38483408:C:T Identity +NM_005562.3:c.1599G>C NP_005553.2:p.Arg533= NC_000001.11:183228503:G:C p.(Arg533=) NC_000001.11:183228503:G:C p.(Arg533=) NC_000001.11:183228503:G:C Identity +NM_000323.2:c.1323G>A NP_000314.1:p.Lys441= NC_000010.11:43111265:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001164507.2:c.2610C>T NP_001157979.2:p.Ser870= NC_000002.12:151687445:G:A p.(Ser870=) NC_000002.12:151687445:G:A p.(Ser870=) NC_000002.12:151687445:G:A Identity +NM_001160227.2:c.6141A>T NP_001153699.1:p.Val2047= NC_000015.10:44569502:T:A p.(Val2047=) NC_000015.10:44569502:T:A p.(Val2047=) NC_000015.10:44569502:T:A Identity +NM_001080442.3:c.807G>T NP_001073911.1:p.Gly269= NC_000016.10:84017285:C:A p.(Gly269=) NC_000016.10:84017285:C:A p.(Gly269=) NC_000016.10:84017285:C:A Identity +NM_000352.6:c.804G>A NP_000343.2:p.Glu268= NC_000011.10:17461600:C:T p.(Glu268=) NC_000011.10:17461600:C:T p.(Glu268=) NC_000011.10:17461600:C:T Identity +NM_000293.3:c.6G>C NP_000284.1:p.Ala2= NC_000016.10:47461355:G:C p.(Ala2=) NC_000016.10:47461355:G:C p.(Ala2=) NC_000016.10:47461355:G:C Identity +NM_144628.4:c.495G>C NP_653229.1:p.Leu165= NC_000020.11:441885:C:G p.(Leu165=) NC_000020.11:441885:C:G p.(Leu165=) NC_000020.11:441885:C:G Identity +NM_001081955.3:c.1737C>T NP_001075424.1:p.Phe579= NC_000017.11:65225339:C:T p.(Phe579=) NC_000017.11:65225339:C:T p.(Phe579=) NC_000017.11:65225339:C:T Identity +NM_000295.5:c.771G>A NP_000286.3:p.Lys257= NC_000014.9:94381016:C:T p.(Lys257=) NC_000014.9:94381016:C:T p.(Lys257=) NC_000014.9:94381016:C:T Identity +NM_001232.4:c.972T>C NP_001223.2:p.Ile324= NC_000001.11:115702962:A:G p.(Ile324=) NC_000001.11:115702962:A:G p.(Ile324=) NC_000001.11:115702962:A:G Identity +NM_001410858.1:c.1254G>T NP_001397787.1:p.Ala418= NC_000018.10:45951236:C:A p.(Ala418=) NC_000018.10:45951236:C:A p.(Ala418=) NC_000018.10:45951236:C:A Identity +NM_000335.5:c.3672G>A NP_000326.2:p.Glu1224= NC_000003.12:38566573:C:T p.(Glu1224=) NC_000003.12:38566573:C:T p.(Glu1224=) NC_000003.12:38566573:C:T Identity +NM_001159508.3:c.1017A>C NP_001152980.2:p.Thr339= NC_000015.10:40416330:A:C p.(Thr339=) NC_000015.10:40416330:A:C p.(Thr339=) NC_000015.10:40416330:A:C Identity +NM_001271667.2:c.462G>A NP_001258596.1:p.Val154= NC_000006.12:15524631:C:T p.(Val154=) NC_000006.12:15524631:C:T p.(Val154=) NC_000006.12:15524631:C:T Identity +NM_001379352.1:c.318G>C NP_001366281.1:p.Ala106= NC_000001.11:146019513:C:G p.(Ala106=) NC_000001.11:146019513:C:G p.(Ala106=) NC_000001.11:146019513:C:G Identity +NM_001377289.1:c.111G>C NP_001364218.1:p.Pro37= NC_000006.12:70281425:C:G p.(Pro37=) NC_000006.12:70281425:C:G p.(Pro37=) NC_000006.12:70281425:C:G Identity +NM_006397.3:c.456G>A NP_006388.2:p.Arg152= NC_000019.10:12810114:G:A p.(Arg152=) NC_000019.10:12810114:G:A p.(Arg152=) NC_000019.10:12810114:G:A Identity +NM_000721.4:c.1383G>A NP_000712.2:p.Lys461= NC_000001.11:181717159:G:A p.(Lys461=) NC_000001.11:181717159:G:A p.(Lys461=) NC_000001.11:181717159:G:A Identity +NM_001407296.1:c.3204T>C NP_001394225.1:p.Pro1068= NC_000016.10:23607949:A:G p.(Pro1068=) NC_000016.10:23607949:A:G p.(Pro1068=) NC_000016.10:23607949:A:G Identity +NM_001297764.2:c.1545C>T NP_001284693.1:p.Asp515= NC_000011.10:17496801:G:A p.(Asp515=) NC_000011.10:17496801:G:A p.(Asp515=) NC_000011.10:17496801:G:A Identity +NM_032888.4:c.4275G>A NP_116277.2:p.Leu1425= NC_000009.12:114290237:G:A p.(Leu1425=) NC_000009.12:114290237:G:A p.(Leu1425=) NC_000009.12:114290237:G:A Identity +NM_001031689.3:c.753G>A NP_001026859.1:p.Glu251= NC_000009.12:26925940:C:T p.(Glu251=) NC_000009.12:26925940:C:T p.(Glu251=) NC_000009.12:26925940:C:T Identity +NM_001357321.2:c.144G>A NP_001344250.1:p.Glu48= NC_000002.12:43844586:G:A p.(Glu48=) NC_000002.12:43844586:G:A p.(Glu48=) NC_000002.12:43844586:G:A Identity +NM_001166292.2:c.549C>T NP_001159764.1:p.Cys183= NC_000001.11:44831773:G:A p.(Cys183=) NC_000001.11:44831773:G:A p.(Cys183=) NC_000001.11:44831773:G:A Identity +NM_001322033.2:c.2700G>A NP_001308962.1:p.Leu900= NC_000019.10:38729410:G:A p.(Leu900=) NC_000019.10:38729410:G:A p.(Leu900=) NC_000019.10:38729410:G:A Identity +NM_000038.6:c.6582_6583del NP_000029.2:p.Val2194_Tyr2195insTer NC_000005.10:112842174:TTT:T p.(Tyr2195Ter) NC_000005.10:112842174:TTT:T p.(Tyr2195Ter) NC_000005.10:112842175:TT: Analogous +NM_021930.6:c.162T>G NP_068749.3:p.Ser54= NC_000007.14:105536637:T:G p.(Ser54=) NC_000007.14:105536637:T:G p.(Ser54=) NC_000007.14:105536637:T:G Identity +NM_020699.4:c.160T>C NP_065750.1:p.Leu54= NC_000001.11:153828187:A:G p.(Leu54=) NC_000001.11:153828187:A:G p.(Leu54=) NC_000001.11:153828187:A:G Identity +NM_005876.5:c.1704T>G NP_005867.3:p.Pro568= NC_000002.12:219448861:T:G p.(Pro568=) NC_000002.12:219448861:T:G p.(Pro568=) NC_000002.12:219448861:T:G Identity +NM_001160227.2:c.1431C>T NP_001153699.1:p.Asp477= NC_000015.10:44651515:G:A p.(Asp477=) NC_000015.10:44651515:G:A p.(Asp477=) NC_000015.10:44651515:G:A Identity +NM_000109.4:c.4698T>G NP_000100.3:p.Arg1566= NC_000023.11:32380632:A:C p.(Arg1566=) NC_000023.11:32380632:A:C p.(Arg1566=) NC_000023.11:32380632:A:C Identity +NM_001303496.3:c.1188A>T NP_001290425.1:p.Leu396= NC_000007.14:93134783:T:A p.(Leu396=) NC_000007.14:93134783:T:A p.(Leu396=) NC_000007.14:93134783:T:A Identity +NM_001278055.2:c.5115G>A NP_001264984.1:p.Gln1705= NC_000013.11:23338319:C:T p.(Gln1705=) NC_000013.11:23338319:C:T p.(Gln1705=) NC_000013.11:23338319:C:T Identity +NM_000391.4:c.1557C>G NP_000382.3:p.Thr519= NC_000011.10:6614680:G:C p.(Thr519=) NC_000011.10:6614680:G:C p.(Thr519=) NC_000011.10:6614680:G:C Identity +NM_000425.5:c.2997G>A NP_000416.1:p.Glu999= NC_000023.11:153864869:C:T p.(Glu999=) NC_000023.11:153864869:C:T p.(Glu999=) NC_000023.11:153864869:C:T Identity +NM_000183.3:c.696T>C NP_000174.1:p.Ala232= NC_000002.12:26279199:T:C p.(Ala232=) NC_000002.12:26279199:T:C p.(Ala232=) NC_000002.12:26279199:T:C Identity +NM_000391.4:c.358C>T NP_000382.3:p.Leu120= NC_000011.10:6617647:G:A p.(Leu120=) NC_000011.10:6617647:G:A p.(Leu120=) NC_000011.10:6617647:G:A Identity +NM_001371986.1:c.6606T>C NP_001358915.1:p.Ser2202= NC_000002.12:209939611:T:C p.(Ser2202=) NC_000002.12:209939611:T:C p.(Ser2202=) NC_000002.12:209939611:T:C Identity +NM_001379500.1:c.3942G>A NP_001366429.1:p.Leu1314= NC_000021.9:45512319:G:A p.(Leu1314=) NC_000021.9:45512319:G:A p.(Leu1314=) NC_000021.9:45512319:G:A Identity +NM_001271933.2:c.1785A>G NP_001258862.1:p.Leu595= NC_000011.10:117387253:A:G p.(Leu595=) NC_000011.10:117387253:A:G p.(Leu595=) NC_000011.10:117387253:A:G Identity +NM_001145293.2:c.1449A>G NP_001138765.1:p.Lys483= NC_000003.12:25729240:T:C p.(Lys483=) NC_000003.12:25729240:T:C p.(Lys483=) NC_000003.12:25729240:T:C Identity +NM_001142800.2:c.4387A>C NP_001136272.1:p.Arg1463= NC_000006.12:64591479:T:G p.(Arg1463=) NC_000006.12:64591479:T:G p.(Arg1463=) NC_000006.12:64591479:T:G Identity +NM_000426.4:c.8274T>C NP_000417.3:p.Ala2758= NC_000006.12:129502687:T:C p.(Ala2758=) NC_000006.12:129502687:T:C p.(Ala2758=) NC_000006.12:129502687:T:C Identity +NM_000231.3:c.456T>C NP_000222.2:p.Thr152= NC_000013.11:23279428:T:C p.(Thr152=) NC_000013.11:23279428:T:C p.(Thr152=) NC_000013.11:23279428:T:C Identity +NM_000244.4:c.105G>A NP_000235.3:p.Val35= NC_000011.10:64810004:C:T p.(Val35=) NC_000011.10:64810004:C:T p.(Val35=) NC_000011.10:64810004:C:T Identity +NM_001271427.2:c.2601A>C NP_001258356.1:p.Gly867= NC_000001.11:19220831:T:G p.(Gly867=) NC_000001.11:19220831:T:G p.(Gly867=) NC_000001.11:19220831:T:G Identity +NM_001182.5:c.492T>C NP_001173.2:p.Ile164= NC_000005.10:126582875:A:G p.(Ile164=) NC_000005.10:126582875:A:G p.(Ile164=) NC_000005.10:126582875:A:G Identity +NM_001193307.2:c.2364T>C NP_001180236.1:p.Arg788= NC_000007.14:93103733:A:G p.(Arg788=) NC_000007.14:93103733:A:G p.(Arg788=) NC_000007.14:93103733:A:G Identity +NM_001193307.2:c.2457T>C NP_001180236.1:p.Ala819= NC_000007.14:93103640:A:G p.(Ala819=) NC_000007.14:93103640:A:G p.(Ala819=) NC_000007.14:93103640:A:G Identity +NM_001243571.2:c.234A>T NP_001230500.1:p.Gly78= NC_000011.10:95862009:T:A p.(Gly78=) NC_000011.10:95862009:T:A p.(Gly78=) NC_000011.10:95862009:T:A Identity +NM_001201543.2:c.1926T>C NP_001188472.1:p.Val642= NC_000002.12:61827183:A:G p.(Val642=) NC_000002.12:61827183:A:G p.(Val642=) NC_000002.12:61827183:A:G Identity +NM_001710.6:c.882C>T NP_001701.2:p.Val294= NC_000006.12:31948065:C:T p.(Val294=) NC_000006.12:31948065:C:T p.(Val294=) NC_000006.12:31948065:C:T Identity +NM_001330384.2:c.1524C>G NP_001317313.1:p.Ala508= NC_000019.10:15256990:G:C p.(Ala508=) NC_000019.10:15256990:G:C p.(Ala508=) NC_000019.10:15256990:G:C Identity +NM_003630.3:c.210G>A NP_003621.1:p.Leu70= NC_000006.12:143462919:G:A p.(Leu70=) NC_000006.12:143462919:G:A p.(Leu70=) NC_000006.12:143462919:G:A Identity +NM_000719.7:c.4776C>A NP_000710.5:p.Ile1592= NC_000012.12:2674589:C:A p.(Ile1592=) NC_000012.12:2674589:C:A p.(Ile1592=) NC_000012.12:2674589:C:A Identity +NM_001174116.3:c.1035A>G NP_001167587.1:p.Gln345= NC_000015.10:51542402:T:C p.(Gln345=) NC_000015.10:51542402:T:C p.(Gln345=) NC_000015.10:51542402:T:C Identity +NM_000251.3:c.2724A>G NP_000242.1:p.Leu908= NC_000002.12:47482867:A:G p.(Leu908=) NC_000002.12:47482867:A:G p.(Leu908=) NC_000002.12:47482867:A:G Identity +NM_000338.3:c.2844G>A NP_000329.2:p.Lys948= NC_000015.10:48288486:G:A p.(Lys948=) NC_000015.10:48288486:G:A p.(Lys948=) NC_000015.10:48288486:G:A Identity +NM_001271933.2:c.1017T>C NP_001258862.1:p.Pro339= NC_000011.10:117371330:T:C p.(Pro339=) NC_000011.10:117371330:T:C p.(Pro339=) NC_000011.10:117371330:T:C Identity +NM_001354705.2:c.2322A>G NP_001341634.1:p.Lys774= NC_000012.12:57581005:A:G p.(Lys774=) NC_000012.12:57581005:A:G p.(Lys774=) NC_000012.12:57581005:A:G Identity +NM_001621.5:c.2499G>C NP_001612.1:p.Pro833= NC_000007.14:17343015:G:C p.(Pro833=) NC_000007.14:17343015:G:C p.(Pro833=) NC_000007.14:17343015:G:C Identity +NM_001311255.1:c.264C>T NP_001298184.1:p.Asp88= NC_000015.10:45603123:C:T p.(Asp88=) NC_000015.10:45603123:C:T p.(Asp88=) NC_000015.10:45603123:C:T Identity +NM_014639.4:c.4194C>T NP_055454.1:p.Thr1398= NC_000005.10:95482490:G:A p.(Thr1398=) NC_000005.10:95482490:G:A p.(Thr1398=) NC_000005.10:95482490:G:A Identity +NM_001256214.2:c.42G>C NP_001243143.1:p.Ser14= NC_000019.10:41988565:C:G p.(Ser14=) NC_000019.10:41988565:C:G p.(Ser14=) NC_000019.10:41988565:C:G Identity +NM_001382361.1:c.1686G>A NP_001369290.1:p.Arg562= NC_000011.10:64223062:G:A p.(Arg562=) NC_000011.10:64223062:G:A p.(Arg562=) NC_000011.10:64223062:G:A Identity +NM_014244.5:c.1221C>T NP_055059.2:p.Ala407= NC_000005.10:179154830:G:A p.(Ala407=) NC_000005.10:179154830:G:A p.(Ala407=) NC_000005.10:179154830:G:A Identity +NM_000053.4:c.567T>G NP_000044.2:p.Pro189= NC_000013.11:51974652:A:C p.(Pro189=) NC_000013.11:51974652:A:C p.(Pro189=) NC_000013.11:51974652:A:C Identity +NM_001346083.2:c.222G>A NP_001333012.1:p.Lys74= NC_000001.11:205058186:G:A p.(Lys74=) NC_000001.11:205058186:G:A p.(Lys74=) NC_000001.11:205058186:G:A Identity +NM_030665.4:c.4467G>A NP_109590.3:p.Glu1489= NC_000017.11:17797414:G:A p.(Glu1489=) NC_000017.11:17797414:G:A p.(Glu1489=) NC_000017.11:17797414:G:A Identity +NM_000228.3:c.2296_2308del NP_000219.2:p.Pro765_Lys766insTer NC_000001.11:209623554:GGGCCACAAGCTTGGG:GGG p.(Lys766Ter) NC_000001.11:209623554:GGGCCACAAGCTTGGG:GGG p.(Lys766Ter) NC_000001.11:209623554:GGGCCACAAGCTT: Analogous +NM_001367624.2:c.2772C>T NP_001354553.1:p.Pro924= NC_000016.10:88430241:C:T p.(Pro924=) NC_000016.10:88430241:C:T p.(Pro924=) NC_000016.10:88430241:C:T Identity +NM_000538.4:c.84G>A NP_000529.1:p.Ala28= NC_000013.11:36819440:G:A p.(Ala28=) NC_000013.11:36819440:G:A p.(Ala28=) NC_000013.11:36819440:G:A Identity +NM_001200001.2:c.3339T>C NP_001186930.1:p.Gly1113= NC_000001.11:119937464:A:G p.(Gly1113=) NC_000001.11:119937464:A:G p.(Gly1113=) NC_000001.11:119937464:A:G Identity +NM_001407296.1:c.2403T>C NP_001394225.1:p.Asn801= NC_000016.10:23629690:A:G p.(Asn801=) NC_000016.10:23629690:A:G p.(Asn801=) NC_000016.10:23629690:A:G Identity +NM_001003786.3:c.415C>T NP_001003786.1:p.Leu139= NC_000017.11:63710545:G:A p.(Leu139=) NC_000017.11:63710545:G:A p.(Leu139=) NC_000017.11:63710545:G:A Identity +NM_173551.5:c.1626C>T NP_775822.3:p.Asn542= NC_000009.12:98774071:G:A p.(Asn542=) NC_000009.12:98774071:G:A p.(Asn542=) NC_000009.12:98774071:G:A Identity +NM_014244.5:c.3105C>G NP_055059.2:p.Pro1035= NC_000005.10:179121733:G:C p.(Pro1035=) NC_000005.10:179121733:G:C p.(Pro1035=) NC_000005.10:179121733:G:C Identity +NM_002900.3:c.1899C>T NP_002891.1:p.His633= NC_000010.11:47350382:C:T p.(His633=) NC_000010.11:47350382:C:T p.(His633=) NC_000010.11:47350382:C:T Identity +NM_001018115.3:c.2121C>T NP_001018125.1:p.Asp707= NC_000003.12:10064827:C:T p.(Asp707=) NC_000003.12:10064827:C:T p.(Asp707=) NC_000003.12:10064827:C:T Identity +NM_000284.4:c.778C>T NP_000275.1:p.Leu260= NC_000023.11:19355703:C:T p.(Leu260=) NC_000023.11:19355703:C:T p.(Leu260=) NC_000023.11:19355703:C:T Identity +NM_001040113.2:c.549G>C NP_001035202.1:p.Gly183= NC_000016.10:15786713:C:G p.(Gly183=) NC_000016.10:15786713:C:G p.(Gly183=) NC_000016.10:15786713:C:G Identity +NM_002185.5:c.1335A>G NP_002176.2:p.Gln445= NC_000005.10:35876440:A:G p.(Gln445=) NC_000005.10:35876440:A:G p.(Gln445=) NC_000005.10:35876440:A:G Identity +NM_182972.3:c.1002C>T NP_892017.2:p.Gly334= NC_000001.11:234608492:G:A p.(Gly334=) NC_000001.11:234608492:G:A p.(Gly334=) NC_000001.11:234608492:G:A Identity +NM_001318219.1:c.4629C>T NP_001305148.1:p.Asp1543= NC_000020.11:35504893:C:T p.(Asp1543=) NC_000020.11:35504893:C:T p.(Asp1543=) NC_000020.11:35504893:C:T Identity +NM_001261406.2:c.459G>A NP_001248335.1:p.Val153= NC_000009.12:13223644:C:T p.(Val153=) NC_000009.12:13223644:C:T p.(Val153=) NC_000009.12:13223644:C:T Identity +NM_001081640.2:c.6744T>C NP_001075109.1:p.Cys2248= NC_000008.11:47855238:A:G p.(Cys2248=) NC_000008.11:47855238:A:G p.(Cys2248=) NC_000008.11:47855238:A:G Identity +NM_014244.5:c.612G>A NP_055059.2:p.Glu204= NC_000005.10:179272986:C:T p.(Glu204=) NC_000005.10:179272986:C:T p.(Glu204=) NC_000005.10:179272986:C:T Identity +NM_207361.6:c.3726G>A NP_997244.4:p.Leu1242= NC_000013.11:38691069:G:A p.(Leu1242=) NC_000013.11:38691069:G:A p.(Leu1242=) NC_000013.11:38691069:G:A Identity +NM_001142800.2:c.5400A>G NP_001136272.1:p.Pro1800= NC_000006.12:64590466:T:C p.(Pro1800=) NC_000006.12:64590466:T:C p.(Pro1800=) NC_000006.12:64590466:T:C Identity +NM_000091.5:c.3840T>A NP_000082.2:p.Gly1280= NC_000002.12:227298769:T:A p.(Gly1280=) NC_000002.12:227298769:T:A p.(Gly1280=) NC_000002.12:227298769:T:A Identity +NM_001029883.3:c.480C>T NP_001025054.1:p.Cys160= NC_000002.12:29073781:G:A p.(Cys160=) NC_000002.12:29073781:G:A p.(Cys160=) NC_000002.12:29073781:G:A Identity +NM_001411138.1:c.2472G>A NP_001398067.1:p.Gly824= NC_000019.10:13928143:G:A p.(Gly824=) NC_000019.10:13928143:G:A p.(Gly824=) NC_000019.10:13928143:G:A Identity +NM_014391.3:c.765G>C NP_055206.2:p.Pro255= NC_000010.11:90915626:C:G p.(Pro255=) NC_000010.11:90915626:C:G p.(Pro255=) NC_000010.11:90915626:C:G Identity +NM_001358921.2:c.855A>C NP_001345850.1:p.Ala285= NC_000004.12:83267681:T:G p.(Ala285=) NC_000004.12:83267681:T:G p.(Ala285=) NC_000004.12:83267681:T:G Identity +NM_000547.6:c.597G>T NP_000538.3:p.Gly199= NC_000002.12:1453807:G:T p.(Gly199=) NC_000002.12:1453807:G:T p.(Gly199=) NC_000002.12:1453807:G:T Identity +NM_016653.3:c.432T>C NP_057737.2:p.Asp144= NC_000002.12:173190910:T:C p.(Asp144=) NC_000002.12:173190910:T:C p.(Asp144=) NC_000002.12:173190910:T:C Identity +NM_000064.4:c.2838C>T NP_000055.2:p.Thr946= NC_000019.10:6696617:G:A p.(Thr946=) NC_000019.10:6696617:G:A p.(Thr946=) NC_000019.10:6696617:G:A Identity +NM_000875.5:c.3270T>C NP_000866.1:p.Tyr1090= NC_000015.10:98935398:T:C p.(Tyr1090=) NC_000015.10:98935398:T:C p.(Tyr1090=) NC_000015.10:98935398:T:C Identity +NM_000170.3:c.1554G>T NP_000161.2:p.Pro518= NC_000009.12:6589220:C:A p.(Pro518=) NC_000009.12:6589220:C:A p.(Pro518=) NC_000009.12:6589220:C:A Identity +NM_001318872.2:c.768A>G NP_001305801.1:p.Gly256= NC_000006.12:5404696:A:G p.(Gly256=) NC_000006.12:5404696:A:G p.(Gly256=) NC_000006.12:5404696:A:G Identity +NM_001008738.3:c.594A>G NP_001008738.3:p.Thr198= NC_000005.10:131716592:T:C p.(Thr198=) NC_000005.10:131716592:T:C p.(Thr198=) NC_000005.10:131716592:T:C Identity +NM_000183.3:c.288A>G NP_000174.1:p.Glu96= NC_000002.12:26273683:A:G p.(Glu96=) NC_000002.12:26273683:A:G p.(Glu96=) NC_000002.12:26273683:A:G Identity +NM_001374839.1:c.171_172delinsAA NP_001361768.1:p.Cys57_Ala58delinsTer NC_000008.11:144416617:CG:TT p.(Cys57Ter) NC_000008.11:144416617:CG:TT p.(Cys57Ter) NC_000008.11:144416617:CG:TT Analogous +NM_031935.3:c.9030T>C NP_114141.2:p.Asn3010= NC_000001.11:186086390:T:C p.(Asn3010=) NC_000001.11:186086390:T:C p.(Asn3010=) NC_000001.11:186086390:T:C Identity +NM_000195.5:c.2064C>T NP_000186.2:p.Ala688= NC_000010.11:98417602:G:A p.(Ala688=) NC_000010.11:98417602:G:A p.(Ala688=) NC_000010.11:98417602:G:A Identity +NM_052844.4:c.927A>G NP_443076.2:p.Thr309= NC_000009.12:128635145:T:C p.(Thr309=) NC_000009.12:128635145:T:C p.(Thr309=) NC_000009.12:128635145:T:C Identity +NM_000719.7:c.4839C>A NP_000710.5:p.Val1613= NC_000012.12:2677103:C:A p.(Val1613=) NC_000012.12:2677103:C:A p.(Val1613=) NC_000012.12:2677103:C:A Identity +NM_001376.5:c.9939T>C NP_001367.2:p.Pro3313= NC_000014.9:102032326:T:C p.(Pro3313=) NC_000014.9:102032326:T:C p.(Pro3313=) NC_000014.9:102032326:T:C Identity +NM_001374839.1:c.993C>T NP_001361768.1:p.Pro331= NC_000008.11:144413969:G:A p.(Pro331=) NC_000008.11:144413969:G:A p.(Pro331=) NC_000008.11:144413969:G:A Identity +NM_001282538.2:c.171C>T NP_001269467.1:p.Ile57= NC_000001.11:1793270:G:A p.(Ile57=) NC_000001.11:1793270:G:A p.(Ile57=) NC_000001.11:1793270:G:A Identity +NM_001112808.3:c.393A>G NP_001106279.3:p.Arg131= NC_000001.11:74236150:A:G p.(Arg131=) NC_000001.11:74236150:A:G p.(Arg131=) NC_000001.11:74236150:A:G Identity +NM_000026.4:c.1080A>G NP_000017.1:p.Glu360= NC_000022.11:40363049:A:G p.(Glu360=) NC_000022.11:40363049:A:G p.(Glu360=) NC_000022.11:40363049:A:G Identity +NM_001258215.1:c.2085C>T NP_001245144.1:p.Asn695= NC_000001.11:67395842:C:T p.(Asn695=) NC_000001.11:67395842:C:T p.(Asn695=) NC_000001.11:67395842:C:T Identity +NM_001164507.2:c.23577C>T NP_001157979.2:p.Val7859= NC_000002.12:151506237:G:A p.(Val7859=) NC_000002.12:151506237:G:A p.(Val7859=) NC_000002.12:151506237:G:A Identity +NM_001039876.3:c.781T>C NP_001034965.1:p.Leu261= NC_000019.10:36006508:A:G p.(Leu261=) NC_000019.10:36006508:A:G p.(Leu261=) NC_000019.10:36006508:A:G Identity +NM_015243.3:c.1875T>C NP_056058.2:p.Asn625= NC_000008.11:99147871:T:C p.(Asn625=) NC_000008.11:99147871:T:C p.(Asn625=) NC_000008.11:99147871:T:C Identity +NM_000836.4:c.1566C>T NP_000827.2:p.Asn522= NC_000019.10:48415016:C:T p.(Asn522=) NC_000019.10:48415016:C:T p.(Asn522=) NC_000019.10:48415016:C:T Identity +NM_001315529.2:c.5781G>A NP_001302458.1:p.Leu1927= NC_000021.9:46412976:G:A p.(Leu1927=) NC_000021.9:46412976:G:A p.(Leu1927=) NC_000021.9:46412976:G:A Identity +NM_001195794.1:c.675G>A NP_001182723.1:p.Gln225= NC_000003.12:150927998:C:T p.(Gln225=) NC_000003.12:150927998:C:T p.(Gln225=) NC_000003.12:150927998:C:T Identity +NM_004646.4:c.3670T>C NP_004637.1:p.Leu1224= NC_000019.10:35826569:A:G p.(Leu1224=) NC_000019.10:35826569:A:G p.(Leu1224=) NC_000019.10:35826569:A:G Identity +NM_000781.3:c.855C>T NP_000772.2:p.Tyr285= NC_000015.10:74343111:G:A p.(Tyr285=) NC_000015.10:74343111:G:A p.(Tyr285=) NC_000015.10:74343111:G:A Identity +NM_001127671.2:c.3222T>C NP_001121143.1:p.Asp1074= NC_000005.10:38481666:A:G p.(Asp1074=) NC_000005.10:38481666:A:G p.(Asp1074=) NC_000005.10:38481666:A:G Identity +NM_001313915.2:c.546C>T NP_001300844.1:p.Tyr182= NC_000002.12:88590820:G:A p.(Tyr182=) NC_000002.12:88590820:G:A p.(Tyr182=) NC_000002.12:88590820:G:A Identity +NM_000433.4:c.618A>G NP_000424.2:p.Ala206= NC_000001.11:183570830:T:C p.(Ala206=) NC_000001.11:183570830:T:C p.(Ala206=) NC_000001.11:183570830:T:C Identity +NM_001319667.1:c.222T>C NP_001306596.1:p.Arg74= NC_000001.11:169470168:A:G p.(Arg74=) NC_000001.11:169470168:A:G p.(Arg74=) NC_000001.11:169470168:A:G Identity +NM_001287489.2:c.2370T>A NP_001274418.1:p.Leu790= NC_000002.12:26477451:A:T p.(Leu790=) NC_000002.12:26477451:A:T p.(Leu790=) NC_000002.12:26477451:A:T Identity +NM_001204.7:c.3108C>T NP_001195.2:p.Asn1036= NC_000002.12:202559936:C:T p.(Asn1036=) NC_000002.12:202559936:C:T p.(Asn1036=) NC_000002.12:202559936:C:T Identity +NM_001321137.1:c.657G>A NP_001308066.1:p.Ala219= NC_000015.10:77028597:G:A p.(Ala219=) NC_000015.10:77028597:G:A p.(Ala219=) NC_000015.10:77028597:G:A Identity +NM_001291285.3:c.5082C>T NP_001278214.1:p.Ala1694= NC_000004.12:125321492:C:T p.(Ala1694=) NC_000004.12:125321492:C:T p.(Ala1694=) NC_000004.12:125321492:C:T Identity +NM_015346.4:c.4521A>G NP_056161.2:p.Leu1507= NC_000014.9:67781380:T:C p.(Leu1507=) NC_000014.9:67781380:T:C p.(Leu1507=) NC_000014.9:67781380:T:C Identity +NM_002618.4:c.921A>G NP_002609.1:p.Gln307= NC_000002.12:61048478:A:G p.(Gln307=) NC_000002.12:61048478:A:G p.(Gln307=) NC_000002.12:61048478:A:G Identity +NM_001113755.3:c.114G>A NP_001107227.1:p.Glu38= NC_000022.11:50529595:C:T p.(Glu38=) NC_000022.11:50529595:C:T p.(Glu38=) NC_000022.11:50529595:C:T Identity +NM_001367624.2:c.927C>G NP_001354553.1:p.Pro309= NC_000016.10:88428396:C:G p.(Pro309=) NC_000016.10:88428396:C:G p.(Pro309=) NC_000016.10:88428396:C:G Identity +NM_001321135.2:c.420C>T NP_001308064.1:p.Ser140= NC_000015.10:77028555:C:T p.(Ser140=) NC_000015.10:77028555:C:T p.(Ser140=) NC_000015.10:77028555:C:T Identity +NM_001003652.4:c.399C>G NP_001003652.1:p.Arg133= NC_000018.10:47869363:G:C p.(Arg133=) NC_000018.10:47869363:G:C p.(Arg133=) NC_000018.10:47869363:G:C Identity +NM_001068.3:c.795G>C NP_001059.2:p.Ser265= NC_000003.12:25635977:C:G p.(Ser265=) NC_000003.12:25635977:C:G p.(Ser265=) NC_000003.12:25635977:C:G Identity +NM_001199917.2:c.738C>T NP_001186846.1:p.Ala246= NC_000006.12:83181868:G:A p.(Ala246=) NC_000006.12:83181868:G:A p.(Ala246=) NC_000006.12:83181868:G:A Identity +LRG_143t1:c.9450C>T LRG_143p1:p.Asn3150= NC_000001.11:235720770:G:A ERR:Data provider error: ValueError: Transcript LRG_143t1 not found ERR:Data provider error: ValueError: Transcript LRG_143t1 not found ERR:AlignmentMapper(tx_ac=LRG_143t1, alt_ac=LRG_143t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_143t1, alt_ac=LRG_143t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_143t1 not found +NM_000092.5:c.342T>A NP_000083.3:p.Val114= NC_000002.12:227119924:A:T p.(Val114=) NC_000002.12:227119924:A:T p.(Val114=) NC_000002.12:227119924:A:T Identity +NM_001384165.1:c.546G>A NP_001371094.1:p.Leu182= NC_000017.11:44075892:G:A p.(Leu182=) NC_000017.11:44075892:G:A p.(Leu182=) NC_000017.11:44075892:G:A Identity +NM_001003652.4:c.609C>T NP_001003652.1:p.Asn203= NC_000018.10:47868368:G:A p.(Asn203=) NC_000018.10:47868368:G:A p.(Asn203=) NC_000018.10:47868368:G:A Identity +NM_001413017.1:c.882T>G NP_001399946.1:p.Val294= NC_000008.11:144516236:A:C p.(Val294=) NC_000008.11:144516236:A:C p.(Val294=) NC_000008.11:144516236:A:C Identity +NM_001128431.4:c.8TGC[6] NP_001121903.1:p.Leu6_His7insLeuLeu NC_000008.11:22404715:GCTGCTGCTGCTGC:GCTGCTGCTGCTGCTGCTGC p.(Leu5_Leu6dup) NC_000008.11:22404717:T:TGCTGCTGCTGCTGCTGC ERR:Parse ERR:Parse Analogous +NM_153252.5:c.873A>C NP_694984.5:p.Thr291= NC_000023.11:80736028:T:G p.(Thr291=) NC_000023.11:80736028:T:G p.(Thr291=) NC_000023.11:80736028:T:G Identity +NM_001204466.2:c.138C>T NP_001191395.1:p.Arg46= NC_000023.11:47169434:C:T p.(Arg46=) NC_000023.11:47169434:C:T p.(Arg46=) NC_000023.11:47169434:C:T Identity +NM_001080449.3:c.2694C>T NP_001073918.2:p.Asp898= NC_000010.11:68422227:G:A p.(Asp898=) NC_000010.11:68422227:G:A p.(Asp898=) NC_000010.11:68422227:G:A Identity +NM_001315529.2:c.111G>A NP_001302458.1:p.Gln37= NC_000021.9:46334593:G:A p.(Gln37=) NC_000021.9:46334593:G:A p.(Gln37=) NC_000021.9:46334593:G:A Identity +NM_012469.4:c.2079A>C NP_036601.2:p.Ala693= NC_000020.11:64027031:A:C p.(Ala693=) NC_000020.11:64027031:A:C p.(Ala693=) NC_000020.11:64027031:A:C Identity +NM_002633.3:c.51G>C NP_002624.2:p.Pro17= NC_000001.11:63593538:G:C p.(Pro17=) NC_000001.11:63593538:G:C p.(Pro17=) NC_000001.11:63593538:G:C Identity +NM_003737.4:c.8973G>A NP_003728.1:p.Arg2991= NC_000011.10:6622702:C:T p.(Arg2991=) NC_000011.10:6622702:C:T p.(Arg2991=) NC_000011.10:6622702:C:T Identity +NM_001410705.1:c.4866A>G NP_001397634.1:p.Thr1622= NC_000023.11:153952721:T:C p.(Thr1622=) NC_000023.11:153952721:T:C p.(Thr1622=) NC_000023.11:153952721:T:C Identity +NM_001037811.2:c.33G>A NP_001032900.1:p.Leu11= NC_000023.11:53433880:C:T p.(Leu11=) NC_000023.11:53433880:C:T p.(Leu11=) NC_000023.11:53433880:C:T Identity +NM_001131019.3:c.906G>T NP_001124491.1:p.Thr302= NC_000017.11:44911671:C:A p.(Thr302=) NC_000017.11:44911671:C:A p.(Thr302=) NC_000017.11:44911671:C:A Identity +NM_000260.4:c.1134C>A NP_000251.3:p.Arg378= NC_000011.10:77160215:C:A p.(Arg378=) NC_000011.10:77160215:C:A p.(Arg378=) NC_000011.10:77160215:C:A Identity +NM_001145472.3:c.2841C>G NP_001138944.1:p.Ala947= NC_000018.10:46485026:G:C p.(Ala947=) NC_000018.10:46485026:G:C p.(Ala947=) NC_000018.10:46485026:G:C Identity +NM_001035.3:c.12042C>G NP_001026.2:p.Leu4014= NC_000001.11:237783753:C:G p.(Leu4014=) NC_000001.11:237783753:C:G p.(Leu4014=) NC_000001.11:237783753:C:G Identity +NM_001250.6:c.78C>T NP_001241.1:p.Cys26= NC_000020.11:46121845:C:T p.(Cys26=) NC_000020.11:46121845:C:T p.(Cys26=) NC_000020.11:46121845:C:T Identity +NM_001005207.5:c.1524T>C NP_001005207.1:p.Asp508= NC_000017.11:59049183:A:G p.(Asp508=) NC_000017.11:59049183:A:G p.(Asp508=) NC_000017.11:59049183:A:G Identity +NM_001080414.4:c.3735C>T NP_001073883.2:p.Ala1245= NC_000014.9:91299970:G:A p.(Ala1245=) NC_000014.9:91299970:G:A p.(Ala1245=) NC_000014.9:91299970:G:A Identity +NM_015295.3:c.5925A>G NP_056110.2:p.Pro1975= NC_000018.10:2796452:A:G p.(Pro1975=) NC_000018.10:2796452:A:G p.(Pro1975=) NC_000018.10:2796452:A:G Identity +NM_001018837.2:c.170dup NP_001018238.1:p.Pro57_Glu58insTer NC_000001.11:154273594:CC:CCC p.(Glu58Ter) NC_000001.11:154273594:CC:CCC p.(Glu58Ter) ERR:SPDI Analogous +NM_000038.6:c.2370A>G NP_000029.2:p.Arg790= NC_000005.10:112837963:A:G p.(Arg790=) NC_000005.10:112837963:A:G p.(Arg790=) NC_000005.10:112837963:A:G Identity +NM_001018037.2:c.2736A>G NP_001018047.1:p.Gly912= NC_000009.12:77276132:A:G p.(Gly912=) NC_000009.12:77276132:A:G p.(Gly912=) NC_000009.12:77276132:A:G Identity +NM_001173466.2:c.990T>G NP_001166937.1:p.Gly330= NC_000012.12:53308526:A:C p.(Gly330=) NC_000012.12:53308526:A:C p.(Gly330=) NC_000012.12:53308526:A:C Identity +NM_001089.3:c.2190A>C NP_001080.2:p.Gly730= NC_000016.10:2297401:T:G p.(Gly730=) NC_000016.10:2297401:T:G p.(Gly730=) NC_000016.10:2297401:T:G Identity +NM_001142763.2:c.450C>T NP_001136235.1:p.Pro150= NC_000010.11:54369158:G:A p.(Pro150=) NC_000010.11:54369158:G:A p.(Pro150=) NC_000010.11:54369158:G:A Identity +NM_001379500.1:c.1593C>G NP_001366429.1:p.Pro531= NC_000021.9:45480839:C:G p.(Pro531=) NC_000021.9:45480839:C:G p.(Pro531=) NC_000021.9:45480839:C:G Identity +NM_025074.7:c.6078A>G NP_079350.5:p.Ser2026= NC_000004.12:78448119:A:G p.(Ser2026=) NC_000004.12:78448119:A:G p.(Ser2026=) NC_000004.12:78448119:A:G Identity +NM_000392.5:c.2580G>A NP_000383.2:p.Lys860= NC_000010.11:99819228:G:A p.(Lys860=) NC_000010.11:99819228:G:A p.(Lys860=) NC_000010.11:99819228:G:A Identity +NM_002709.3:c.831T>C NP_002700.1:p.Asn277= NC_000002.12:28793948:T:C p.(Asn277=) NC_000002.12:28793948:T:C p.(Asn277=) NC_000002.12:28793948:T:C Identity +NM_001320974.2:c.207G>A NP_001307903.1:p.Val69= NC_000010.11:99729617:C:T p.(Val69=) NC_000010.11:99729617:C:T p.(Val69=) NC_000010.11:99729617:C:T Identity +NM_001308122.2:c.1653C>G NP_001295051.1:p.Val551= NC_000005.10:132393805:C:G p.(Val551=) NC_000005.10:132393805:C:G p.(Val551=) NC_000005.10:132393805:C:G Identity +NM_001288653.2:c.4062A>G NP_001275582.1:p.Arg1354= NC_000017.11:59683394:A:G p.(Arg1354=) NC_000017.11:59683394:A:G p.(Arg1354=) NC_000017.11:59683394:A:G Identity +NM_144631.6:c.93C>G NP_653232.3:p.Ala31= NC_000002.12:27380210:G:C p.(Ala31=) NC_000002.12:27380210:G:C p.(Ala31=) NC_000002.12:27380210:G:C Identity +NM_000540.3:c.11130G>A NP_000531.2:p.Leu3710= NC_000019.10:38529045:G:A p.(Leu3710=) NC_000019.10:38529045:G:A p.(Leu3710=) NC_000019.10:38529045:G:A Identity +NM_001195799.2:c.541_549del NP_001182728.1:p.Cys181_Asp183del NC_000019.10:11105566:GACTGCAAGGAC:GAC p.(Cys181_Asp183del) NC_000019.10:11105566:GACTGCAAGGAC:GAC p.(Cys181_Asp183del) NC_000019.10:11105569:TGCAAGGAC: Identity +NM_001288607.2:c.547C>T NP_001275536.1:p.Leu183= NC_000001.11:150553537:C:T p.(Leu183=) NC_000001.11:150553537:C:T p.(Leu183=) NC_000001.11:150553537:C:T Identity +NM_000103.4:c.534G>A NP_000094.2:p.Val178= NC_000015.10:51222442:C:T p.(Val178=) NC_000015.10:51222442:C:T p.(Val178=) NC_000015.10:51222442:C:T Identity +NM_000262.3:c.150A>C NP_000253.1:p.Ile50= NC_000022.11:42068440:T:G p.(Ile50=) NC_000022.11:42068440:T:G p.(Ile50=) NC_000022.11:42068440:T:G Identity +NM_001291285.3:c.7653A>G NP_001278214.1:p.Thr2551= NC_000004.12:125448662:A:G p.(Thr2551=) NC_000004.12:125448662:A:G p.(Thr2551=) NC_000004.12:125448662:A:G Identity +NM_000546.6:c.340T>C NP_000537.3:p.Leu114= NC_000017.11:7676028:A:G p.(Leu114=) NC_000017.11:7676028:A:G p.(Leu114=) NC_000017.11:7676028:A:G Identity +NM_001367624.2:c.7440C>A NP_001354553.1:p.Ser2480= NC_000016.10:88434909:C:A p.(Ser2480=) NC_000016.10:88434909:C:A p.(Ser2480=) NC_000016.10:88434909:C:A Identity +NM_016239.4:c.6300C>T NP_057323.3:p.His2100= NC_000017.11:18145897:C:T p.(His2100=) NC_000017.11:18145897:C:T p.(His2100=) NC_000017.11:18145897:C:T Identity +NM_000212.3:c.1968C>T NP_000203.2:p.Thr656= NC_000017.11:47300531:C:T p.(Thr656=) NC_000017.11:47300531:C:T p.(Thr656=) NC_000017.11:47300531:C:T Identity +NM_017890.5:c.9429T>A NP_060360.3:p.Ala3143= NC_000008.11:99832391:T:A p.(Ala3143=) NC_000008.11:99832391:T:A p.(Ala3143=) NC_000008.11:99832391:T:A Identity +NM_000836.4:c.3537C>T NP_000827.2:p.His1179= NC_000019.10:48443462:C:T p.(His1179=) NC_000019.10:48443462:C:T p.(His1179=) NC_000019.10:48443462:C:T Identity +NM_001386500.1:c.2946G>A NP_001373429.1:p.Leu982= NC_000001.11:11228751:C:T p.(Leu982=) NC_000001.11:11228751:C:T p.(Leu982=) NC_000001.11:11228751:C:T Identity +NM_000350.3:c.6532C>T NP_000341.2:p.Leu2178= NC_000001.11:93998057:G:A p.(Leu2178=) NC_000001.11:93998057:G:A p.(Leu2178=) NC_000001.11:93998057:G:A Identity +NM_001164716.1:c.2226T>C NP_001158188.1:p.Pro742= NC_000011.10:64746697:A:G p.(Pro742=) NC_000011.10:64746697:A:G p.(Pro742=) NC_000011.10:64746697:A:G Identity +NM_004621.6:c.759C>T NP_004612.2:p.Cys253= NC_000011.10:101504209:G:A p.(Cys253=) NC_000011.10:101504209:G:A p.(Cys253=) NC_000011.10:101504209:G:A Identity +NM_001164097.2:c.5055T>G NP_001157569.1:p.Thr1685= NC_000005.10:83541018:T:G p.(Thr1685=) NC_000005.10:83541018:T:G p.(Thr1685=) NC_000005.10:83541018:T:G Identity +NM_015338.6:c.603C>T NP_056153.2:p.Ser201= NC_000020.11:32429937:C:T p.(Ser201=) NC_000020.11:32429937:C:T p.(Ser201=) NC_000020.11:32429937:C:T Identity +NM_018849.3:c.3468A>G NP_061337.1:p.Lys1156= NC_000007.14:87406326:T:C p.(Lys1156=) NC_000007.14:87406326:T:C p.(Lys1156=) NC_000007.14:87406326:T:C Identity +NM_001080414.4:c.936A>G NP_001073883.2:p.Arg312= NC_000014.9:91338118:T:C p.(Arg312=) NC_000014.9:91338118:T:C p.(Arg312=) NC_000014.9:91338118:T:C Identity +NM_007215.4:c.1230G>T NP_009146.2:p.Gly410= NC_000017.11:64480350:C:A p.(Gly410=) NC_000017.11:64480350:C:A p.(Gly410=) NC_000017.11:64480350:C:A Identity +NM_000338.3:c.678T>C NP_000329.2:p.Thr226= NC_000015.10:48226524:T:C p.(Thr226=) NC_000015.10:48226524:T:C p.(Thr226=) NC_000015.10:48226524:T:C Identity +NM_002299.4:c.2682A>G NP_002290.2:p.Glu894= NC_000002.12:135809664:T:C p.(Glu894=) NC_000002.12:135809664:T:C p.(Glu894=) NC_000002.12:135809664:T:C Identity +NM_001377456.1:c.212_226del NP_001364385.1:p.Ile71_Val75del NC_000016.10:56514571:TGACTGCCTGGTTAATG:TG p.(Ile71_Val75del) NC_000016.10:56514571:TGACTGCCTGGTTAATG:TG p.(Ile71_Val75del) NC_000016.10:56514571:TGACTGCCTGGTTAA: Identity +NM_001178074.2:c.933C>T NP_001171545.1:p.Tyr311= NC_000012.12:66463032:G:A p.(Tyr311=) NC_000012.12:66463032:G:A p.(Tyr311=) NC_000012.12:66463032:G:A Identity +NM_001018037.2:c.5892A>G NP_001018047.1:p.Ser1964= NC_000009.12:77332026:A:G p.(Ser1964=) NC_000009.12:77332026:A:G p.(Ser1964=) NC_000009.12:77332026:A:G Identity +NM_000050.4:c.273C>G NP_000041.2:p.Thr91= NC_000009.12:130458498:C:G p.(Thr91=) NC_000009.12:130458498:C:G p.(Thr91=) NC_000009.12:130458498:C:G Identity +NM_001003786.3:c.621C>T NP_001003786.1:p.Leu207= NC_000017.11:63707267:G:A p.(Leu207=) NC_000017.11:63707267:G:A p.(Leu207=) NC_000017.11:63707267:G:A Identity +NM_003705.5:c.273C>T NP_003696.2:p.Phe91= NC_000002.12:171855885:G:A p.(Phe91=) NC_000002.12:171855885:G:A p.(Phe91=) NC_000002.12:171855885:G:A Identity +NM_001354705.2:c.2091A>G NP_001341634.1:p.Thr697= NC_000012.12:57577769:A:G p.(Thr697=) NC_000012.12:57577769:A:G p.(Thr697=) NC_000012.12:57577769:A:G Identity +NM_001166133.2:c.5634C>T NP_001159605.1:p.Pro1878= NC_000004.12:78441265:C:T p.(Pro1878=) NC_000004.12:78441265:C:T p.(Pro1878=) NC_000004.12:78441265:C:T Identity +NM_001031847.3:c.444G>A NP_001027017.1:p.Lys148= NC_000011.10:68807475:C:T p.(Lys148=) NC_000011.10:68807475:C:T p.(Lys148=) NC_000011.10:68807475:C:T Identity +NM_004646.4:c.1509G>A NP_004637.1:p.Glu503= NC_000019.10:35846125:C:T p.(Glu503=) NC_000019.10:35846125:C:T p.(Glu503=) NC_000019.10:35846125:C:T Identity +NM_001080442.3:c.457C>T NP_001073911.1:p.Leu153= NC_000016.10:84033400:G:A p.(Leu153=) NC_000016.10:84033400:G:A p.(Leu153=) NC_000016.10:84033400:G:A Identity +NM_001319667.1:c.372T>G NP_001306596.1:p.Pro124= NC_000001.11:169470018:A:C p.(Pro124=) NC_000001.11:169470018:A:C p.(Pro124=) NC_000001.11:169470018:A:C Identity +NM_016239.4:c.2028C>T NP_057323.3:p.Pro676= NC_000017.11:18120827:C:T p.(Pro676=) NC_000017.11:18120827:C:T p.(Pro676=) NC_000017.11:18120827:C:T Identity +NM_014028.4:c.762A>G NP_054747.2:p.Leu254= NC_000006.12:108051051:T:C p.(Leu254=) NC_000006.12:108051051:T:C p.(Leu254=) NC_000006.12:108051051:T:C Identity +NM_000547.6:c.624G>A NP_000538.3:p.Val208= NC_000002.12:1456086:G:A p.(Val208=) NC_000002.12:1456086:G:A p.(Val208=) NC_000002.12:1456086:G:A Identity +NM_001004426.3:c.271C>T NP_001004426.1:p.Leu91= NC_000022.11:38145591:G:A p.(Leu91=) NC_000022.11:38145591:G:A p.(Leu91=) NC_000022.11:38145591:G:A Identity +NM_001378454.1:c.10728A>G NP_001365383.1:p.Gln3576= NC_000002.12:73572604:A:G p.(Gln3576=) NC_000002.12:73572604:A:G p.(Gln3576=) NC_000002.12:73572604:A:G Identity +NM_000260.4:c.24C>T NP_000251.3:p.Asp8= NC_000011.10:77142713:C:T p.(Asp8=) NC_000011.10:77142713:C:T p.(Asp8=) NC_000011.10:77142713:C:T Identity +NM_001146039.2:c.328C>T NP_001139511.2:p.Leu110= NC_000001.11:170539475:C:T p.(Leu110=) NC_000001.11:170539475:C:T p.(Leu110=) NC_000001.11:170539475:C:T Identity +NM_001081640.2:c.6642A>G NP_001075109.1:p.Arg2214= NC_000008.11:47855340:T:C p.(Arg2214=) NC_000008.11:47855340:T:C p.(Arg2214=) NC_000008.11:47855340:T:C Identity +NM_033118.4:c.240T>G NP_149109.1:p.Gly80= NC_000020.11:31820312:T:G p.(Gly80=) NC_000020.11:31820312:T:G p.(Gly80=) NC_000020.11:31820312:T:G Identity +NM_016941.4:c.1407C>T NP_058637.1:p.His469= NC_000019.10:39507351:C:T p.(His469=) NC_000019.10:39507351:C:T p.(His469=) NC_000019.10:39507351:C:T Identity +NM_003742.4:c.3423T>A NP_003733.2:p.Gly1141= NC_000002.12:168927350:A:T p.(Gly1141=) NC_000002.12:168927350:A:T p.(Gly1141=) NC_000002.12:168927350:A:T Identity +NM_001080463.2:c.3516G>A NP_001073932.1:p.Lys1172= NC_000011.10:103154751:G:A p.(Lys1172=) NC_000011.10:103154751:G:A p.(Lys1172=) NC_000011.10:103154751:G:A Identity +NM_000046.5:c.159C>T NP_000037.2:p.Asp53= NC_000005.10:78985089:G:A p.(Asp53=) NC_000005.10:78985089:G:A p.(Asp53=) NC_000005.10:78985089:G:A Identity +NM_001122681.2:c.279T>C NP_001116153.1:p.Val93= NC_000004.12:2824651:T:C p.(Val93=) NC_000004.12:2824651:T:C p.(Val93=) NC_000004.12:2824651:T:C Identity +NM_001089.3:c.3672C>T NP_001080.2:p.Thr1224= NC_000016.10:2284809:G:A p.(Thr1224=) NC_000016.10:2284809:G:A p.(Thr1224=) NC_000016.10:2284809:G:A Identity +NM_001287489.2:c.3087G>T NP_001274418.1:p.Pro1029= NC_000002.12:26475397:C:A p.(Pro1029=) NC_000002.12:26475397:C:A p.(Pro1029=) NC_000002.12:26475397:C:A Identity +NM_000092.5:c.3054T>C NP_000083.3:p.Gly1018= NC_000002.12:227051072:A:G p.(Gly1018=) NC_000002.12:227051072:A:G p.(Gly1018=) NC_000002.12:227051072:A:G Identity +NM_001126131.2:c.1371G>A NP_001119603.1:p.Arg457= NC_000015.10:89327228:C:T p.(Arg457=) NC_000015.10:89327228:C:T p.(Arg457=) NC_000015.10:89327228:C:T Identity +NM_001378454.1:c.5757T>C NP_001365383.1:p.Asn1919= NC_000002.12:73452283:T:C p.(Asn1919=) NC_000002.12:73452283:T:C p.(Asn1919=) NC_000002.12:73452283:T:C Identity +NM_001410908.1:c.1590T>G NP_001397837.1:p.Leu530= NC_000007.14:105090239:T:G p.(Leu530=) NC_000007.14:105090239:T:G p.(Leu530=) NC_000007.14:105090239:T:G Identity +NM_000920.4:c.2812C>T NP_000911.2:p.Leu938= NC_000011.10:66850022:G:A p.(Leu938=) NC_000011.10:66850022:G:A p.(Leu938=) NC_000011.10:66850022:G:A Identity +NM_001134793.2:c.585T>C NP_001128265.1:p.Phe195= NC_000011.10:125899952:T:C p.(Phe195=) NC_000011.10:125899952:T:C p.(Phe195=) NC_000011.10:125899952:T:C Identity +NM_001278666.2:c.357G>A NP_001265595.1:p.Val119= NC_000006.12:57196490:C:T p.(Val119=) NC_000006.12:57196490:C:T p.(Val119=) NC_000006.12:57196490:C:T Identity +NM_000383.4:c.1554C>G NP_000374.1:p.Ser518= NC_000021.9:44296432:C:G p.(Ser518=) NC_000021.9:44296432:C:G p.(Ser518=) NC_000021.9:44296432:C:G Identity +NM_001128844.3:c.4143C>T NP_001122316.1:p.Asp1381= NC_000019.10:11035104:C:T p.(Asp1381=) NC_000019.10:11035104:C:T p.(Asp1381=) NC_000019.10:11035104:C:T Identity +NM_001304482.2:c.1677G>A NP_001291411.1:p.Lys559= NC_000003.12:47409759:G:A p.(Lys559=) NC_000003.12:47409759:G:A p.(Lys559=) NC_000003.12:47409759:G:A Identity +NM_002439.5:c.1776C>T NP_002430.3:p.Ala592= NC_000005.10:80761557:C:T p.(Ala592=) NC_000005.10:80761557:C:T p.(Ala592=) NC_000005.10:80761557:C:T Identity +NM_001304482.2:c.3384A>C NP_001291411.1:p.Pro1128= NC_000003.12:47411559:A:C p.(Pro1128=) NC_000003.12:47411559:A:C p.(Pro1128=) NC_000003.12:47411559:A:C Identity +NM_001291902.2:c.2187T>C NP_001278831.1:p.Cys729= NC_000011.10:68433767:T:C p.(Cys729=) NC_000011.10:68433767:T:C p.(Cys729=) NC_000011.10:68433767:T:C Identity +NM_016239.4:c.672C>T NP_057323.3:p.Tyr224= NC_000017.11:18119471:C:T p.(Tyr224=) NC_000017.11:18119471:C:T p.(Tyr224=) NC_000017.11:18119471:C:T Identity +NM_000702.4:c.1002T>C NP_000693.1:p.Leu334= NC_000001.11:160127804:T:C p.(Leu334=) NC_000001.11:160127804:T:C p.(Leu334=) NC_000001.11:160127804:T:C Identity +NM_000111.3:c.2034G>A NP_000102.1:p.Lys678= NC_000007.14:107772081:C:T p.(Lys678=) NC_000007.14:107772081:C:T p.(Lys678=) NC_000007.14:107772081:C:T Identity +NM_000443.4:c.3408C>T NP_000434.1:p.Ser1136= NC_000007.14:87406365:G:A p.(Ser1136=) NC_000007.14:87406365:G:A p.(Ser1136=) NC_000007.14:87406365:G:A Identity +NM_001424108.1:c.1752G>A NP_001411037.1:p.Glu584= NC_000006.12:33177450:C:T p.(Glu584=) NC_000006.12:33177450:C:T p.(Glu584=) NC_000006.12:33177450:C:T Identity +NM_001146289.2:c.693G>T NP_001139761.1:p.Ala231= NC_000001.11:42759315:C:A p.(Ala231=) NC_000001.11:42759315:C:A p.(Ala231=) NC_000001.11:42759315:C:A Identity +NM_002076.4:c.345G>A NP_002067.1:p.Glu115= NC_000012.12:64747825:C:T p.(Glu115=) NC_000012.12:64747825:C:T p.(Glu115=) NC_000012.12:64747825:C:T Identity +NM_001089.3:c.2097C>T NP_001080.2:p.Ser699= NC_000016.10:2297494:G:A p.(Ser699=) NC_000016.10:2297494:G:A p.(Ser699=) NC_000016.10:2297494:G:A Identity +NM_001171930.2:c.858G>T NP_001165401.1:p.Leu286= NC_000010.11:71615528:G:T p.(Leu286=) NC_000010.11:71615528:G:T p.(Leu286=) NC_000010.11:71615528:G:T Identity +NM_001142763.2:c.4407T>C NP_001136235.1:p.His1469= NC_000010.11:53823339:A:G p.(His1469=) NC_000010.11:53823339:A:G p.(His1469=) NC_000010.11:53823339:A:G Identity +NM_000495.5:c.2172A>C NP_000486.1:p.Pro724= NC_000023.11:108602988:A:C p.(Pro724=) NC_000023.11:108602988:A:C p.(Pro724=) NC_000023.11:108602988:A:C Identity +NM_001122769.3:c.411A>G NP_001116241.1:p.Lys137= NC_000006.12:79513520:T:C p.(Lys137=) NC_000006.12:79513520:T:C p.(Lys137=) NC_000006.12:79513520:T:C Identity +NM_001037333.3:c.3603G>A NP_001032410.1:p.Lys1201= NC_000005.10:157392840:G:A p.(Lys1201=) NC_000005.10:157392840:G:A p.(Lys1201=) NC_000005.10:157392840:G:A Identity +NM_001346897.2:c.123G>A NP_001333826.1:p.Leu41= NC_000007.14:55142319:G:A p.(Leu41=) NC_000007.14:55142319:G:A p.(Leu41=) NC_000007.14:55142319:G:A Identity +NM_199242.3:c.2356C>T NP_954712.1:p.Leu786= NC_000017.11:75834085:G:A p.(Leu786=) NC_000017.11:75834085:G:A p.(Leu786=) NC_000017.11:75834085:G:A Identity +NM_000254.3:c.1311C>A NP_000245.2:p.Ser437= NC_000001.11:236835668:C:A p.(Ser437=) NC_000001.11:236835668:C:A p.(Ser437=) NC_000001.11:236835668:C:A Identity +NM_000206.3:c.405A>C NP_000197.1:p.Pro135= NC_000023.11:71110552:T:G p.(Pro135=) NC_000023.11:71110552:T:G p.(Pro135=) NC_000023.11:71110552:T:G Identity +NM_012079.6:c.696C>T NP_036211.2:p.Ala232= NC_000008.11:144318149:G:A p.(Ala232=) NC_000008.11:144318149:G:A p.(Ala232=) NC_000008.11:144318149:G:A Identity +NM_001304763.2:c.285T>C NP_001291692.1:p.Ser95= NC_000001.11:151286575:T:C p.(Ser95=) NC_000001.11:151286575:T:C p.(Ser95=) NC_000001.11:151286575:T:C Identity +NM_001105243.2:c.879G>C NP_001098713.1:p.Pro293= NC_000023.11:100407718:C:G p.(Pro293=) NC_000023.11:100407718:C:G p.(Pro293=) NC_000023.11:100407718:C:G Identity +NM_005002.5:c.861G>A NP_004993.1:p.Leu287= NC_000012.12:4682264:G:A p.(Leu287=) NC_000012.12:4682264:G:A p.(Leu287=) NC_000012.12:4682264:G:A Identity +NM_002500.5:c.408G>A NP_002491.3:p.Lys136= NC_000002.12:181678452:C:T p.(Lys136=) NC_000002.12:181678452:C:T p.(Lys136=) NC_000002.12:181678452:C:T Identity +NM_001185091.2:c.663G>A NP_001172020.1:p.Gly221= NC_000009.12:137149037:G:A p.(Gly221=) NC_000009.12:137149037:G:A p.(Gly221=) NC_000009.12:137149037:G:A Identity +NM_012448.4:c.1302G>A NP_036580.2:p.Ser434= NC_000017.11:42217237:C:T p.(Ser434=) NC_000017.11:42217237:C:T p.(Ser434=) NC_000017.11:42217237:C:T Identity +NM_001291969.2:c.1026T>C NP_001278898.1:p.Ser342= NC_000006.12:43613812:T:C p.(Ser342=) NC_000006.12:43613812:T:C p.(Ser342=) NC_000006.12:43613812:T:C Identity +NM_000255.4:c.336T>C NP_000246.2:p.Gly112= NC_000006.12:49459130:A:G p.(Gly112=) NC_000006.12:49459130:A:G p.(Gly112=) NC_000006.12:49459130:A:G Identity +NM_001039885.3:c.717C>G NP_001034974.1:p.Thr239= NC_000019.10:46756166:C:G p.(Thr239=) NC_000019.10:46756166:C:G p.(Thr239=) NC_000019.10:46756166:C:G Identity +NM_003235.5:c.4755T>C NP_003226.4:p.Ala1585= NC_000008.11:132929130:T:C p.(Ala1585=) NC_000008.11:132929130:T:C p.(Ala1585=) NC_000008.11:132929130:T:C Identity +NM_001172631.3:c.945C>G NP_001166102.1:p.Val315= NC_000014.9:102425284:C:G p.(Val315=) NC_000014.9:102425284:C:G p.(Val315=) NC_000014.9:102425284:C:G Identity +NM_000104.4:c.960A>C NP_000095.2:p.Val320= NC_000002.12:38074428:T:G p.(Val320=) NC_000002.12:38074428:T:G p.(Val320=) NC_000002.12:38074428:T:G Identity +NM_000350.3:c.270T>C NP_000341.2:p.Ser90= NC_000001.11:94111469:A:G p.(Ser90=) NC_000001.11:94111469:A:G p.(Ser90=) NC_000001.11:94111469:A:G Identity +NM_207361.6:c.9039G>T NP_997244.4:p.Thr3013= NC_000013.11:38880315:G:T p.(Thr3013=) NC_000013.11:38880315:G:T p.(Thr3013=) NC_000013.11:38880315:G:T Identity +NM_000246.4:c.2982G>A NP_000237.2:p.Leu994= NC_000016.10:10916378:G:A p.(Leu994=) NC_000016.10:10916378:G:A p.(Leu994=) NC_000016.10:10916378:G:A Identity +NM_001080463.2:c.2589T>C NP_001073932.1:p.Ile863= NC_000011.10:103143281:T:C p.(Ile863=) NC_000011.10:103143281:T:C p.(Ile863=) NC_000011.10:103143281:T:C Identity +NM_001414.4:c.657C>T NP_001405.1:p.Ala219= NC_000012.12:123622731:G:A p.(Ala219=) NC_000012.12:123622731:G:A p.(Ala219=) NC_000012.12:123622731:G:A Identity +NM_020778.5:c.1413C>A NP_065829.4:p.Thr471= NC_000015.10:84840691:C:A p.(Thr471=) NC_000015.10:84840691:C:A p.(Thr471=) NC_000015.10:84840691:C:A Identity +NM_032119.4:c.14874A>G NP_115495.3:p.Gly4958= NC_000005.10:90807638:A:G p.(Gly4958=) NC_000005.10:90807638:A:G p.(Gly4958=) NC_000005.10:90807638:A:G Identity +NM_033109.5:c.585A>T NP_149100.2:p.Ile195= NC_000002.12:55679775:T:A p.(Ile195=) NC_000002.12:55679775:T:A p.(Ile195=) NC_000002.12:55679775:T:A Identity +NM_001290185.2:c.2481G>C NP_001277114.1:p.Leu827= NC_000011.10:119081163:G:C p.(Leu827=) NC_000011.10:119081163:G:C p.(Leu827=) NC_000011.10:119081163:G:C Identity +NM_017882.3:c.75G>A NP_060352.1:p.Leu25= NC_000015.10:68229509:C:T p.(Leu25=) NC_000015.10:68229509:C:T p.(Leu25=) NC_000015.10:68229509:C:T Identity +NM_001039375.3:c.498C>G NP_001034464.1:p.Leu166= NC_000020.11:13801547:C:G p.(Leu166=) NC_000020.11:13801547:C:G p.(Leu166=) NC_000020.11:13801547:C:G Identity +NM_000271.5:c.3057T>C NP_000262.2:p.Tyr1019= NC_000018.10:23536860:A:G p.(Tyr1019=) NC_000018.10:23536860:A:G p.(Tyr1019=) NC_000018.10:23536860:A:G Identity +NM_001164313.2:c.426T>G NP_001157785.1:p.Thr142= NC_000006.12:109481600:A:C p.(Thr142=) NC_000006.12:109481600:A:C p.(Thr142=) NC_000006.12:109481600:A:C Identity +NM_000426.4:c.8754C>T NP_000417.3:p.Ala2918= NC_000006.12:129507538:C:T p.(Ala2918=) NC_000006.12:129507538:C:T p.(Ala2918=) NC_000006.12:129507538:C:T Identity +NM_177924.5:c.33C>A NP_808592.2:p.Leu11= NC_000008.11:18084025:G:T p.(Leu11=) NC_000008.11:18084025:G:T p.(Leu11=) NC_000008.11:18084025:G:T Identity +NM_001306079.2:c.3318C>G NP_001293008.1:p.Thr1106= NC_000002.12:27234114:C:G p.(Thr1106=) NC_000002.12:27234114:C:G p.(Thr1106=) NC_000002.12:27234114:C:G Identity +NM_001242405.2:c.1059A>G NP_001229334.1:p.Pro353= NC_000005.10:42718565:A:G p.(Pro353=) NC_000005.10:42718565:A:G p.(Pro353=) NC_000005.10:42718565:A:G Identity +NM_000243.3:c.549G>C NP_000234.1:p.Pro183= NC_000016.10:3254518:C:G p.(Pro183=) NC_000016.10:3254518:C:G p.(Pro183=) NC_000016.10:3254518:C:G Identity +NM_000557.5:c.774G>C NP_000548.2:p.Gly258= NC_000020.11:35434640:C:G p.(Gly258=) NC_000020.11:35434640:C:G p.(Gly258=) NC_000020.11:35434640:C:G Identity +NM_000274.4:c.633T>C NP_000265.1:p.Asp211= NC_000010.11:124405450:A:G p.(Asp211=) NC_000010.11:124405450:A:G p.(Asp211=) NC_000010.11:124405450:A:G Identity +NM_000172.4:c.222G>A NP_000163.2:p.Leu74= NC_000003.12:50193336:G:A p.(Leu74=) NC_000003.12:50193336:G:A p.(Leu74=) NC_000003.12:50193336:G:A Identity +NM_000092.5:c.111T>C NP_000083.3:p.Tyr37= NC_000002.12:227144518:A:G p.(Tyr37=) NC_000002.12:227144518:A:G p.(Tyr37=) NC_000002.12:227144518:A:G Identity +NM_001252043.2:c.2637T>G NP_001238972.1:p.Leu879= NC_000016.10:29987247:T:G p.(Leu879=) NC_000016.10:29987247:T:G p.(Leu879=) NC_000016.10:29987247:T:G Identity +NM_001040610.3:c.924G>A NP_001035700.1:p.Val308= NC_000015.10:82227564:C:T p.(Val308=) NC_000015.10:82227564:C:T p.(Val308=) NC_000015.10:82227564:C:T Identity +NM_001371986.1:c.3426T>C NP_001358915.1:p.Asp1142= NC_000002.12:209842417:T:C p.(Asp1142=) NC_000002.12:209842417:T:C p.(Asp1142=) NC_000002.12:209842417:T:C Identity +NM_000111.3:c.477G>A NP_000102.1:p.Leu159= NC_000007.14:107791140:C:T p.(Leu159=) NC_000007.14:107791140:C:T p.(Leu159=) NC_000007.14:107791140:C:T Identity +NM_001315529.2:c.5685C>T NP_001302458.1:p.Leu1895= NC_000021.9:46412880:C:T p.(Leu1895=) NC_000021.9:46412880:C:T p.(Leu1895=) NC_000021.9:46412880:C:T Identity +NM_001193307.2:c.1668C>T NP_001180236.1:p.Leu556= NC_000007.14:93104429:G:A p.(Leu556=) NC_000007.14:93104429:G:A p.(Leu556=) NC_000007.14:93104429:G:A Identity +NM_001316350.2:c.1296C>G NP_001303279.1:p.Ser432= NC_000001.11:231270956:C:G p.(Ser432=) NC_000001.11:231270956:C:G p.(Ser432=) NC_000001.11:231270956:C:G Identity +NM_001145853.1:c.1611C>T NP_001139325.1:p.Cys537= NC_000004.12:6301405:C:T p.(Cys537=) NC_000004.12:6301405:C:T p.(Cys537=) NC_000004.12:6301405:C:T Identity +NM_003482.4:c.5978_5980dup NP_003473.3:p.Gly1993_Asp1994insGly NC_000012.12:49042217:CGCC:CGCCGCC p.(Gly1993dup) NC_000012.12:49042217:CGCC:CGCCGCC p.(Gly1993dup) ERR:SPDI Analogous +NM_032119.4:c.13221T>G NP_115495.3:p.Thr4407= NC_000005.10:90781567:T:G p.(Thr4407=) NC_000005.10:90781567:T:G p.(Thr4407=) NC_000005.10:90781567:T:G Identity +NM_001367624.2:c.144C>A NP_001354553.1:p.Ala48= NC_000016.10:88427613:C:A p.(Ala48=) NC_000016.10:88427613:C:A p.(Ala48=) NC_000016.10:88427613:C:A Identity +NM_000293.3:c.3024T>C NP_000284.1:p.Ile1008= NC_000016.10:47698467:T:C p.(Ile1008=) NC_000016.10:47698467:T:C p.(Ile1008=) NC_000016.10:47698467:T:C Identity +NM_001286577.2:c.3987G>C NP_001273506.1:p.Leu1329= NC_000011.10:74084893:C:G p.(Leu1329=) NC_000011.10:74084893:C:G p.(Leu1329=) NC_000011.10:74084893:C:G Identity +NM_000051.4:c.2844A>C NP_000042.3:p.Leu948= NC_000011.10:108271068:A:C p.(Leu948=) NC_000011.10:108271068:A:C p.(Leu948=) NC_000011.10:108271068:A:C Identity +NM_207361.6:c.5295T>G NP_997244.4:p.Arg1765= NC_000013.11:38764334:T:G p.(Arg1765=) NC_000013.11:38764334:T:G p.(Arg1765=) NC_000013.11:38764334:T:G Identity +NM_004341.5:c.1995C>T NP_004332.2:p.Cys665= NC_000002.12:27226282:C:T p.(Cys665=) NC_000002.12:27226282:C:T p.(Cys665=) NC_000002.12:27226282:C:T Identity +NM_001190720.3:c.1692G>A NP_001177649.2:p.Lys564= NC_000008.11:42322391:G:A p.(Lys564=) NC_000008.11:42322391:G:A p.(Lys564=) NC_000008.11:42322391:G:A Identity +NM_001367624.2:c.1314C>T NP_001354553.1:p.Pro438= NC_000016.10:88428783:C:T p.(Pro438=) NC_000016.10:88428783:C:T p.(Pro438=) NC_000016.10:88428783:C:T Identity +NM_003620.4:c.426C>T NP_003611.1:p.Ile142= NC_000017.11:60600839:C:T p.(Ile142=) NC_000017.11:60600839:C:T p.(Ile142=) NC_000017.11:60600839:C:T Identity +NM_001146.5:c.759G>A NP_001137.2:p.Glu253= NC_000008.11:107321944:C:T p.(Glu253=) NC_000008.11:107321944:C:T p.(Glu253=) NC_000008.11:107321944:C:T Identity +NM_001128844.3:c.3888G>C NP_001122316.1:p.Val1296= NC_000019.10:11034136:G:C p.(Val1296=) NC_000019.10:11034136:G:C p.(Val1296=) NC_000019.10:11034136:G:C Identity +NM_000320.3:c.468T>C NP_000311.2:p.Ala156= NC_000004.12:17492308:A:G p.(Ala156=) NC_000004.12:17492308:A:G p.(Ala156=) NC_000004.12:17492308:A:G Identity +NM_000875.5:c.2745G>T NP_000866.1:p.Ser915= NC_000015.10:98924646:G:T p.(Ser915=) NC_000015.10:98924646:G:T p.(Ser915=) NC_000015.10:98924646:G:T Identity +NM_001172509.2:c.117C>T NP_001165980.1:p.Ser39= NC_000002.12:199455920:G:A p.(Ser39=) NC_000002.12:199455920:G:A p.(Ser39=) NC_000002.12:199455920:G:A Identity +NM_001063.4:c.750C>A NP_001054.2:p.Thr250= NC_000003.12:133756888:C:A p.(Thr250=) NC_000003.12:133756888:C:A p.(Thr250=) NC_000003.12:133756888:C:A Identity +NM_001367624.2:c.7611G>A NP_001354553.1:p.Glu2537= NC_000016.10:88435080:G:A p.(Glu2537=) NC_000016.10:88435080:G:A p.(Glu2537=) NC_000016.10:88435080:G:A Identity +NM_001378454.1:c.11976C>G NP_001365383.1:p.Thr3992= NC_000002.12:73601297:C:G p.(Thr3992=) NC_000002.12:73601297:C:G p.(Thr3992=) NC_000002.12:73601297:C:G Identity +NM_001364837.1:c.999G>A NP_001351766.1:p.Lys333= NC_000014.9:64426063:G:A p.(Lys333=) NC_000014.9:64426063:G:A p.(Lys333=) NC_000014.9:64426063:G:A Identity +NM_000109.4:c.9765C>A NP_000100.3:p.Val3255= NC_000023.11:31203978:G:T p.(Val3255=) NC_000023.11:31203978:G:T p.(Val3255=) NC_000023.11:31203978:G:T Identity +NM_003632.3:c.1347T>C NP_003623.1:p.Phe449= NC_000017.11:42688501:T:C p.(Phe449=) NC_000017.11:42688501:T:C p.(Phe449=) NC_000017.11:42688501:T:C Identity +NM_000350.3:c.5013T>A NP_000341.2:p.Ile1671= NC_000001.11:94021244:A:T p.(Ile1671=) NC_000001.11:94021244:A:T p.(Ile1671=) NC_000001.11:94021244:A:T Identity +NM_001318491.2:c.387G>A NP_001305420.1:p.Leu129= NC_000013.11:20596194:G:A p.(Leu129=) NC_000013.11:20596194:G:A p.(Leu129=) NC_000013.11:20596194:G:A Identity +NM_001350234.2:c.2941C>A NP_001337163.1:p.Arg981= NC_000001.11:9724882:C:A p.(Arg981=) NC_000001.11:9724882:C:A p.(Arg981=) NC_000001.11:9724882:C:A Identity +NM_001354726.2:c.1725T>C NP_001341655.1:p.Pro575= NC_000003.12:14148677:A:G p.(Pro575=) NC_000003.12:14148677:A:G p.(Pro575=) NC_000003.12:14148677:A:G Identity +NM_006915.3:c.447A>G NP_008846.2:p.Gln149= NC_000023.11:46853819:A:G p.(Gln149=) NC_000023.11:46853819:A:G p.(Gln149=) NC_000023.11:46853819:A:G Identity +NM_020207.7:c.3792T>C NP_064592.3:p.Ala1264= NC_000009.12:96012341:T:C p.(Ala1264=) NC_000009.12:96012341:T:C p.(Ala1264=) NC_000009.12:96012341:T:C Identity +NM_001127671.2:c.1590A>G NP_001121143.1:p.Thr530= NC_000005.10:38502646:T:C p.(Thr530=) NC_000005.10:38502646:T:C p.(Thr530=) NC_000005.10:38502646:T:C Identity +NM_006031.6:c.252G>C NP_006022.3:p.Gly84= NC_000021.9:46326573:G:C p.(Gly84=) NC_000021.9:46326573:G:C p.(Gly84=) NC_000021.9:46326573:G:C Identity +NM_014249.4:c.753C>T NP_055064.1:p.Ile251= NC_000015.10:71813393:C:T p.(Ile251=) NC_000015.10:71813393:C:T p.(Ile251=) NC_000015.10:71813393:C:T Identity +NM_001288951.2:c.1713G>C NP_001275880.1:p.Leu571= NC_000002.12:47029294:G:C p.(Leu571=) NC_000002.12:47029294:G:C p.(Leu571=) NC_000002.12:47029294:G:C Identity +NM_001346813.1:c.2280A>C NP_001333742.1:p.Ser760= NC_000006.12:157110508:A:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000260.4:c.6153C>G NP_000251.3:p.Ser2051= NC_000011.10:77211252:C:G p.(Ser2051=) NC_000011.10:77211252:C:G p.(Ser2051=) NC_000011.10:77211252:C:G Identity +NM_001256317.3:c.181T>C NP_001243246.1:p.Leu61= NC_000021.9:42389950:A:G p.(Leu61=) NC_000021.9:42389950:A:G p.(Leu61=) NC_000021.9:42389950:A:G Identity +NM_001369550.1:c.235C>T NP_001356479.1:p.Leu79= NC_000009.12:84723691:C:T p.(Leu79=) NC_000009.12:84723691:C:T p.(Leu79=) NC_000009.12:84723691:C:T Identity +NM_001037333.3:c.240G>T NP_001032410.1:p.Ala80= NC_000005.10:157294814:G:T p.(Ala80=) NC_000005.10:157294814:G:T p.(Ala80=) NC_000005.10:157294814:G:T Identity +NM_030943.4:c.135C>T NP_112205.2:p.Gly45= NC_000014.9:102923801:C:T p.(Gly45=) NC_000014.9:102923801:C:T p.(Gly45=) NC_000014.9:102923801:C:T Identity +NM_001363711.2:c.4146G>A NP_001350640.1:p.Leu1382= NC_000015.10:45095529:C:T p.(Leu1382=) NC_000015.10:45095529:C:T p.(Leu1382=) NC_000015.10:45095529:C:T Identity +NM_001413017.1:c.69G>C NP_001399946.1:p.Gly23= NC_000008.11:144517715:C:G p.(Gly23=) NC_000008.11:144517715:C:G p.(Gly23=) NC_000008.11:144517715:C:G Identity +NM_006261.5:c.111C>T NP_006252.4:p.Asp37= NC_000005.10:177994336:G:A p.(Asp37=) NC_000005.10:177994336:G:A p.(Asp37=) NC_000005.10:177994336:G:A Identity +NM_001365819.1:c.87G>A NP_001352748.1:p.Gln29= NC_000022.11:50468429:C:T p.(Gln29=) NC_000022.11:50468429:C:T p.(Gln29=) NC_000022.11:50468429:C:T Identity +NM_001081640.2:c.11274G>A NP_001075109.1:p.Leu3758= NC_000008.11:47782499:C:T p.(Leu3758=) NC_000008.11:47782499:C:T p.(Leu3758=) NC_000008.11:47782499:C:T Identity +NM_006158.5:c.940_945del NP_006149.2:p.Ala314_Lys315del NC_000008.11:24955570:CTTGGCCTTG:CTTG p.(Ala314_Lys315del) NC_000008.11:24955570:CTTGGCCTTG:CTTG p.(Ala314_Lys315del) NC_000008.11:24955570:CTTGGC: Identity +NM_001363711.2:c.1356C>T NP_001350640.1:p.Ile452= NC_000015.10:45108830:G:A p.(Ile452=) NC_000015.10:45108830:G:A p.(Ile452=) NC_000015.10:45108830:G:A Identity +NM_001288607.2:c.1209G>T NP_001275536.1:p.Leu403= NC_000001.11:150554441:G:T p.(Leu403=) NC_000001.11:150554441:G:T p.(Leu403=) NC_000001.11:150554441:G:T Identity +NM_000260.4:c.2391G>A NP_000251.3:p.Leu797= NC_000011.10:77179757:G:A p.(Leu797=) NC_000011.10:77179757:G:A p.(Leu797=) NC_000011.10:77179757:G:A Identity +NM_000039.3:c.114G>C NP_000030.1:p.Leu38= NC_000011.10:116837086:C:G p.(Leu38=) NC_000011.10:116837086:C:G p.(Leu38=) NC_000011.10:116837086:C:G Identity +NM_001080463.2:c.5586T>C NP_001073932.1:p.Tyr1862= NC_000011.10:103174081:T:C p.(Tyr1862=) NC_000011.10:103174081:T:C p.(Tyr1862=) NC_000011.10:103174081:T:C Identity +NM_000557.5:c.783C>G NP_000548.2:p.Ala261= NC_000020.11:35434631:G:C p.(Ala261=) NC_000020.11:35434631:G:C p.(Ala261=) NC_000020.11:35434631:G:C Identity +NM_001164821.2:c.1356C>T NP_001158293.1:p.Ser452= NC_000002.12:171481107:C:T p.(Ser452=) NC_000002.12:171481107:C:T p.(Ser452=) NC_000002.12:171481107:C:T Identity +NM_000410.4:c.585G>A NP_000401.1:p.Leu195= NC_000006.12:26091557:G:A p.(Leu195=) NC_000006.12:26091557:G:A p.(Leu195=) NC_000006.12:26091557:G:A Identity +NM_001160227.2:c.2640T>C NP_001153699.1:p.Pro880= NC_000015.10:44620383:A:G p.(Pro880=) NC_000015.10:44620383:A:G p.(Pro880=) NC_000015.10:44620383:A:G Identity +NM_001367624.2:c.645C>T NP_001354553.1:p.Gly215= NC_000016.10:88428114:C:T p.(Gly215=) NC_000016.10:88428114:C:T p.(Gly215=) NC_000016.10:88428114:C:T Identity +NM_001194998.2:c.1506T>C NP_001181927.1:p.Asn502= NC_000015.10:48781266:A:G p.(Asn502=) NC_000015.10:48781266:A:G p.(Asn502=) NC_000015.10:48781266:A:G Identity +NM_001320099.2:c.201A>G NP_001307028.1:p.Lys67= NC_000012.12:93678974:A:G p.(Lys67=) NC_000012.12:93678974:A:G p.(Lys67=) NC_000012.12:93678974:A:G Identity +NM_030665.4:c.4713A>G NP_109590.3:p.Ala1571= NC_000017.11:17797660:A:G p.(Ala1571=) NC_000017.11:17797660:A:G p.(Ala1571=) NC_000017.11:17797660:A:G Identity +NM_004565.3:c.15G>A NP_004556.1:p.Glu5= NC_000001.11:10474980:G:A p.(Glu5=) NC_000001.11:10474980:G:A p.(Glu5=) NC_000001.11:10474980:G:A Identity +NM_001324191.2:c.180A>G NP_001311120.1:p.Ser60= NC_000020.11:3910647:A:G p.(Ser60=) NC_000020.11:3910647:A:G p.(Ser60=) NC_000020.11:3910647:A:G Identity +NM_005199.5:c.1014C>A NP_005190.4:p.Ser338= NC_000002.12:232543677:C:A p.(Ser338=) NC_000002.12:232543677:C:A p.(Ser338=) NC_000002.12:232543677:C:A Identity +NM_001367624.2:c.4375C>T NP_001354553.1:p.Leu1459= NC_000016.10:88431844:C:T p.(Leu1459=) NC_000016.10:88431844:C:T p.(Leu1459=) NC_000016.10:88431844:C:T Identity +NM_000433.4:c.465A>G NP_000424.2:p.Arg155= NC_000001.11:183574522:T:C p.(Arg155=) NC_000001.11:183574522:T:C p.(Arg155=) NC_000001.11:183574522:T:C Identity +NM_001193307.2:c.2304G>A NP_001180236.1:p.Val768= NC_000007.14:93103793:C:T p.(Val768=) NC_000007.14:93103793:C:T p.(Val768=) NC_000007.14:93103793:C:T Identity +NM_001410858.1:c.4548G>A NP_001397787.1:p.Lys1516= NC_000018.10:45901093:C:T p.(Lys1516=) NC_000018.10:45901093:C:T p.(Lys1516=) NC_000018.10:45901093:C:T Identity +NM_000038.6:c.7524A>T NP_000029.2:p.Pro2508= NC_000005.10:112843117:A:T p.(Pro2508=) NC_000005.10:112843117:A:T p.(Pro2508=) NC_000005.10:112843117:A:T Identity +NM_001407296.1:c.270A>C NP_001394225.1:p.Gly90= NC_000016.10:23636215:T:G p.(Gly90=) NC_000016.10:23636215:T:G p.(Gly90=) NC_000016.10:23636215:T:G Identity +NM_001256182.2:c.42G>A NP_001243111.1:p.Glu14= NC_000016.10:89316977:C:T p.(Glu14=) NC_000016.10:89316977:C:T p.(Glu14=) NC_000016.10:89316977:C:T Identity +NM_001080463.2:c.1918T>C NP_001073932.1:p.Leu640= NC_000011.10:103128969:T:C p.(Leu640=) NC_000011.10:103128969:T:C p.(Leu640=) NC_000011.10:103128969:T:C Identity +NM_001145294.2:c.900T>C NP_001138766.1:p.Tyr300= NC_000003.12:25736126:A:G p.(Tyr300=) NC_000003.12:25736126:A:G p.(Tyr300=) NC_000003.12:25736126:A:G Identity +NM_017617.5:c.1857G>A NP_060087.3:p.Gln619= NC_000009.12:136515528:C:T p.(Gln619=) NC_000009.12:136515528:C:T p.(Gln619=) NC_000009.12:136515528:C:T Identity +NM_000286.3:c.963C>G NP_000277.1:p.Gly321= NC_000017.11:35575898:G:C p.(Gly321=) NC_000017.11:35575898:G:C p.(Gly321=) NC_000017.11:35575898:G:C Identity +NM_000246.4:c.1609C>T NP_000237.2:p.Leu537= NC_000016.10:10907100:C:T p.(Leu537=) NC_000016.10:10907100:C:T p.(Leu537=) NC_000016.10:10907100:C:T Identity +NM_001145293.2:c.1209G>A NP_001138765.1:p.Arg403= NC_000003.12:25732480:C:T p.(Arg403=) NC_000003.12:25732480:C:T p.(Arg403=) NC_000003.12:25732480:C:T Identity +NM_000339.3:c.558C>T NP_000330.3:p.Gly186= NC_000016.10:56869780:C:T p.(Gly186=) NC_000016.10:56869780:C:T p.(Gly186=) NC_000016.10:56869780:C:T Identity +NM_001257137.3:c.1449T>C NP_001244066.1:p.Gly483= NC_000020.11:34462122:T:C p.(Gly483=) NC_000020.11:34462122:T:C p.(Gly483=) NC_000020.11:34462122:T:C Identity +NM_001130955.2:c.207T>C NP_001124427.2:p.Phe69= NC_000019.10:7440308:T:C p.(Phe69=) NC_000019.10:7440308:T:C p.(Phe69=) NC_000019.10:7440308:T:C Identity +NM_001376.5:c.12621T>C NP_001367.2:p.Phe4207= NC_000014.9:102043981:T:C p.(Phe4207=) NC_000014.9:102043981:T:C p.(Phe4207=) NC_000014.9:102043981:T:C Identity +NM_000050.4:c.1041G>T NP_000041.2:p.Gly347= NC_000009.12:130494936:G:T p.(Gly347=) NC_000009.12:130494936:G:T p.(Gly347=) NC_000009.12:130494936:G:T Identity +NM_016616.5:c.1737T>C NP_057700.3:p.Asn579= NC_000007.14:37897061:T:C p.(Asn579=) NC_000007.14:37897061:T:C p.(Asn579=) NC_000007.14:37897061:T:C Identity +NM_001164507.2:c.19929C>T NP_001157979.2:p.Tyr6643= NC_000002.12:151551752:G:A p.(Tyr6643=) NC_000002.12:151551752:G:A p.(Tyr6643=) NC_000002.12:151551752:G:A Identity +NM_000400.4:c.489C>G NP_000391.1:p.Ala163= NC_000019.10:45364942:G:C p.(Ala163=) NC_000019.10:45364942:G:C p.(Ala163=) NC_000019.10:45364942:G:C Identity +LRG_1222t1:c.2553C>G LRG_1222p1:p.Pro851= NC_000017.11:45266561:G:C ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found ERR:AlignmentMapper(tx_ac=LRG_1222t1, alt_ac=LRG_1222t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1222t1, alt_ac=LRG_1222t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found +NM_006915.3:c.1032T>C NP_008846.2:p.Ala344= NC_000023.11:46879747:T:C p.(Ala344=) NC_000023.11:46879747:T:C p.(Ala344=) NC_000023.11:46879747:T:C Identity +NM_001126131.2:c.2406G>A NP_001119603.1:p.Arg802= NC_000015.10:89322761:C:T p.(Arg802=) NC_000015.10:89322761:C:T p.(Arg802=) NC_000015.10:89322761:C:T Identity +NM_001126131.2:c.1464G>C NP_001119603.1:p.Leu488= NC_000015.10:89327032:C:G p.(Leu488=) NC_000015.10:89327032:C:G p.(Leu488=) NC_000015.10:89327032:C:G Identity +NM_032119.4:c.5748C>A NP_115495.3:p.Thr1916= NC_000005.10:90683668:C:A p.(Thr1916=) NC_000005.10:90683668:C:A p.(Thr1916=) NC_000005.10:90683668:C:A Identity +NM_000080.4:c.1188G>A NP_000071.1:p.Glu396= NC_000017.11:4899228:C:T p.(Glu396=) NC_000017.11:4899228:C:T p.(Glu396=) NC_000017.11:4899228:C:T Identity +NM_006445.4:c.1200T>C NP_006436.3:p.Asn400= NC_000017.11:1679697:A:G p.(Asn400=) NC_000017.11:1679697:A:G p.(Asn400=) NC_000017.11:1679697:A:G Identity +NM_022172.3:c.1689G>C NP_071504.2:p.Leu563= NC_000011.10:66852574:C:G p.(Leu563=) NC_000011.10:66852574:C:G p.(Leu563=) NC_000011.10:66852574:C:G Identity +NM_007230.1:c.921C>T NP_009161.1:p.Tyr307= NC_000009.12:137101116:C:T ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_000547.6:c.948G>A NP_000538.3:p.Gln316= NC_000002.12:1477213:G:A p.(Gln316=) NC_000002.12:1477213:G:A p.(Gln316=) NC_000002.12:1477213:G:A Identity +NM_001105243.2:c.1485G>T NP_001098713.1:p.Ser495= NC_000023.11:100407112:C:A p.(Ser495=) NC_000023.11:100407112:C:A p.(Ser495=) NC_000023.11:100407112:C:A Identity +NM_001037537.2:c.255C>T NP_001032626.1:p.Pro85= NC_000010.11:13288482:G:A p.(Pro85=) NC_000010.11:13288482:G:A p.(Pro85=) NC_000010.11:13288482:G:A Identity +NM_004646.4:c.1446G>C NP_004637.1:p.Ser482= NC_000019.10:35846188:C:G p.(Ser482=) NC_000019.10:35846188:C:G p.(Ser482=) NC_000019.10:35846188:C:G Identity +NM_004525.3:c.8328G>A NP_004516.2:p.Leu2776= NC_000002.12:169201751:C:T p.(Leu2776=) NC_000002.12:169201751:C:T p.(Leu2776=) NC_000002.12:169201751:C:T Identity +NM_001127207.2:c.474C>T NP_001120679.1:p.Pro158= NC_000002.12:216415177:C:T p.(Pro158=) NC_000002.12:216415177:C:T p.(Pro158=) NC_000002.12:216415177:C:T Identity +NM_000228.3:c.753C>T NP_000219.2:p.Phe251= NC_000001.11:209632651:G:A p.(Phe251=) NC_000001.11:209632651:G:A p.(Phe251=) NC_000001.11:209632651:G:A Identity +NM_001363602.2:c.525C>G NP_001350531.1:p.Pro175= NC_000019.10:1393310:C:G p.(Pro175=) NC_000019.10:1393310:C:G p.(Pro175=) NC_000019.10:1393310:C:G Identity +NM_000360.4:c.933C>T NP_000351.2:p.Thr311= NC_000011.10:2166676:G:A p.(Thr311=) NC_000011.10:2166676:G:A p.(Thr311=) NC_000011.10:2166676:G:A Identity +NM_017890.5:c.8469C>A NP_060360.3:p.Val2823= NC_000008.11:99818482:C:A p.(Val2823=) NC_000008.11:99818482:C:A p.(Val2823=) NC_000008.11:99818482:C:A Identity +NM_001312673.2:c.183G>A NP_001299602.1:p.Arg61= NC_000003.12:196257821:C:T p.(Arg61=) NC_000003.12:196257821:C:T p.(Arg61=) NC_000003.12:196257821:C:T Identity +NM_001270399.2:c.384G>A NP_001257328.1:p.Gln128= NC_000012.12:49185981:C:T p.(Gln128=) NC_000012.12:49185981:C:T p.(Gln128=) NC_000012.12:49185981:C:T Identity +NM_001145473.3:c.1449C>G NP_001138945.1:p.Thr483= NC_000018.10:46477561:G:C p.(Thr483=) NC_000018.10:46477561:G:C p.(Thr483=) NC_000018.10:46477561:G:C Identity +NM_173500.4:c.1356A>G NP_775771.3:p.Glu452= NC_000015.10:42777083:T:C p.(Glu452=) NC_000015.10:42777083:T:C p.(Glu452=) NC_000015.10:42777083:T:C Identity +NM_001374839.1:c.99C>T NP_001361768.1:p.Thr33= NC_000008.11:144416690:G:A p.(Thr33=) NC_000008.11:144416690:G:A p.(Thr33=) NC_000008.11:144416690:G:A Identity +NM_006915.3:c.720A>G NP_008846.2:p.Leu240= NC_000023.11:46854092:A:G p.(Leu240=) NC_000023.11:46854092:A:G p.(Leu240=) NC_000023.11:46854092:A:G Identity +NM_001191028.3:c.537A>G NP_001177957.2:p.Thr179= NC_000007.14:129014993:T:C p.(Thr179=) NC_000007.14:129014993:T:C p.(Thr179=) NC_000007.14:129014993:T:C Identity +NM_001080976.3:c.264C>G NP_001074445.1:p.Pro88= NC_000006.12:116399513:C:G p.(Pro88=) NC_000006.12:116399513:C:G p.(Pro88=) NC_000006.12:116399513:C:G Identity +NM_000104.4:c.153C>A NP_000095.2:p.Pro51= NC_000002.12:38075235:G:T p.(Pro51=) NC_000002.12:38075235:G:T p.(Pro51=) NC_000002.12:38075235:G:T Identity +NM_017890.5:c.3342T>A NP_060360.3:p.Leu1114= NC_000008.11:99442531:T:A p.(Leu1114=) NC_000008.11:99442531:T:A p.(Leu1114=) NC_000008.11:99442531:T:A Identity +NM_001411101.1:c.780C>A NP_001398030.1:p.Leu260= NC_000017.11:82800876:C:A p.(Leu260=) NC_000017.11:82800876:C:A p.(Leu260=) NC_000017.11:82800876:C:A Identity +NM_001164507.2:c.4722C>T NP_001157979.2:p.Cys1574= NC_000002.12:151666398:G:A p.(Cys1574=) NC_000002.12:151666398:G:A p.(Cys1574=) NC_000002.12:151666398:G:A Identity +NM_001367624.2:c.7875C>T NP_001354553.1:p.Ser2625= NC_000016.10:88435344:C:T p.(Ser2625=) NC_000016.10:88435344:C:T p.(Ser2625=) NC_000016.10:88435344:C:T Identity +NM_001089.3:c.1263C>T NP_001080.2:p.Leu421= NC_000016.10:2308471:G:A p.(Leu421=) NC_000016.10:2308471:G:A p.(Leu421=) NC_000016.10:2308471:G:A Identity +NM_001134363.3:c.3189G>C NP_001127835.2:p.Val1063= NC_000010.11:110821807:G:C p.(Val1063=) NC_000010.11:110821807:G:C p.(Val1063=) NC_000010.11:110821807:G:C Identity +NM_001039885.3:c.699G>T NP_001034974.1:p.Val233= NC_000019.10:46756148:G:T p.(Val233=) NC_000019.10:46756148:G:T p.(Val233=) NC_000019.10:46756148:G:T Identity +NM_000081.4:c.5136T>C NP_000072.2:p.Ile1712= NC_000001.11:235780942:A:G p.(Ile1712=) NC_000001.11:235780942:A:G p.(Ile1712=) NC_000001.11:235780942:A:G Identity +NM_001256959.2:c.1590C>T NP_001243888.2:p.Thr530= NC_000001.11:11834364:C:T p.(Thr530=) NC_000001.11:11834364:C:T p.(Thr530=) NC_000001.11:11834364:C:T Identity +NM_001410805.1:c.1263G>T NP_001397734.1:p.Thr421= NC_000003.12:128910088:G:T p.(Thr421=) NC_000003.12:128910088:G:T p.(Thr421=) NC_000003.12:128910088:G:T Identity +NM_000028.3:c.2910C>T NP_000019.2:p.Val970= NC_000001.11:99891316:C:T p.(Val970=) NC_000001.11:99891316:C:T p.(Val970=) NC_000001.11:99891316:C:T Identity +NM_005271.5:c.108G>A NP_005262.1:p.Gln36= NC_000010.11:87094661:C:T p.(Gln36=) NC_000010.11:87094661:C:T p.(Gln36=) NC_000010.11:87094661:C:T Identity +NM_000094.4:c.102T>G NP_000085.1:p.Leu34= NC_000003.12:48594531:A:C p.(Leu34=) NC_000003.12:48594531:A:C p.(Leu34=) NC_000003.12:48594531:A:C Identity +NM_001190794.2:c.75C>T NP_001177723.1:p.Ala25= NC_000001.11:183590254:G:A p.(Ala25=) NC_000001.11:183590254:G:A p.(Ala25=) NC_000001.11:183590254:G:A Identity +NM_000528.4:c.3030T>C NP_000519.2:p.Asp1010= NC_000019.10:12646625:A:G p.(Asp1010=) NC_000019.10:12646625:A:G p.(Asp1010=) NC_000019.10:12646625:A:G Identity +NM_000426.4:c.3837G>A NP_000417.3:p.Gly1279= NC_000006.12:129315862:G:A p.(Gly1279=) NC_000006.12:129315862:G:A p.(Gly1279=) NC_000006.12:129315862:G:A Identity +NM_001367624.2:c.10170G>C NP_001354553.1:p.Leu3390= NC_000016.10:88437639:G:C p.(Leu3390=) NC_000016.10:88437639:G:C p.(Leu3390=) NC_000016.10:88437639:G:C Identity +NM_001282708.1:c.87G>A NP_001269637.1:p.Pro29= NC_000009.12:130693877:G:A p.(Pro29=) NC_000009.12:130693877:G:A p.(Pro29=) NC_000009.12:130693877:G:A Identity +NM_004629.2:c.1209A>G NP_004620.1:p.Ala403= NC_000009.12:35075688:T:C p.(Ala403=) NC_000009.12:35075688:T:C p.(Ala403=) NC_000009.12:35075688:T:C Identity +NM_001199917.2:c.307T>C NP_001186846.1:p.Leu103= NC_000006.12:83188779:A:G p.(Leu103=) NC_000006.12:83188779:A:G p.(Leu103=) NC_000006.12:83188779:A:G Identity +NM_030662.4:c.234G>A NP_109587.1:p.Leu78= NC_000019.10:4117487:C:T p.(Leu78=) NC_000019.10:4117487:C:T p.(Leu78=) NC_000019.10:4117487:C:T Identity +NM_004813.4:c.933T>A NP_004804.2:p.Pro311= NC_000011.10:45910916:A:T p.(Pro311=) NC_000011.10:45910916:A:T p.(Pro311=) NC_000011.10:45910916:A:T Identity +NM_001099679.2:c.924C>A NP_001093149.1:p.Ala308= NC_000009.12:116698665:C:A p.(Ala308=) NC_000009.12:116698665:C:A p.(Ala308=) NC_000009.12:116698665:C:A Identity +NM_000443.4:c.1692C>T NP_000434.1:p.Asp564= NC_000007.14:87439705:G:A p.(Asp564=) NC_000007.14:87439705:G:A p.(Asp564=) NC_000007.14:87439705:G:A Identity +NM_001351273.1:c.3156G>A NP_001338202.1:p.Lys1052= NC_000019.10:1466459:G:A p.(Lys1052=) NC_000019.10:1466459:G:A p.(Lys1052=) NC_000019.10:1466459:G:A Identity +NM_001024847.3:c.486C>G NP_001020018.1:p.Ser162= NC_000003.12:30650416:C:G p.(Ser162=) NC_000003.12:30650416:C:G p.(Ser162=) NC_000003.12:30650416:C:G Identity +NM_001424108.1:c.1161C>T NP_001411037.1:p.Gly387= NC_000006.12:33180275:G:A p.(Gly387=) NC_000006.12:33180275:G:A p.(Gly387=) NC_000006.12:33180275:G:A Identity +NM_000553.6:c.2385T>C NP_000544.2:p.His795= NC_000008.11:31116464:T:C p.(His795=) NC_000008.11:31116464:T:C p.(His795=) NC_000008.11:31116464:T:C Identity +NM_003482.4:c.3504C>A NP_003473.3:p.Val1168= NC_000012.12:49050083:G:T p.(Val1168=) NC_000012.12:49050083:G:T p.(Val1168=) NC_000012.12:49050083:G:T Identity +NM_001170629.2:c.4797G>A NP_001164100.1:p.Val1599= NC_000014.9:21400000:C:T p.(Val1599=) NC_000014.9:21400000:C:T p.(Val1599=) NC_000014.9:21400000:C:T Identity +NM_001317335.2:c.741C>G NP_001304264.1:p.Arg247= NC_000019.10:863195:C:G p.(Arg247=) NC_000019.10:863195:C:G p.(Arg247=) NC_000019.10:863195:C:G Identity +NM_014510.3:c.11019G>A NP_055325.2:p.Lys3673= NC_000007.14:82949568:C:T p.(Lys3673=) NC_000007.14:82949568:C:T p.(Lys3673=) NC_000007.14:82949568:C:T Identity +NM_004525.3:c.10677G>A NP_004516.2:p.Gln3559= NC_000002.12:169175283:C:T p.(Gln3559=) NC_000002.12:169175283:C:T p.(Gln3559=) NC_000002.12:169175283:C:T Identity +NM_001083116.3:c.420C>A NP_001076585.1:p.Thr140= NC_000010.11:70600482:G:T p.(Thr140=) NC_000010.11:70600482:G:T p.(Thr140=) NC_000010.11:70600482:G:T Identity +NM_001411101.1:c.1806T>C NP_001398030.1:p.His602= NC_000017.11:82905987:T:C p.(His602=) NC_000017.11:82905987:T:C p.(His602=) NC_000017.11:82905987:T:C Identity +NM_024408.4:c.6633A>C NP_077719.2:p.Ala2211= NC_000001.11:119916088:T:G p.(Ala2211=) NC_000001.11:119916088:T:G p.(Ala2211=) NC_000001.11:119916088:T:G Identity +NM_025074.7:c.8623T>C NP_079350.5:p.Leu2875= NC_000004.12:78482405:T:C p.(Leu2875=) NC_000004.12:78482405:T:C p.(Leu2875=) NC_000004.12:78482405:T:C Identity +NM_207361.6:c.6768C>G NP_997244.4:p.Thr2256= NC_000013.11:38851710:C:G p.(Thr2256=) NC_000013.11:38851710:C:G p.(Thr2256=) NC_000013.11:38851710:C:G Identity +NM_001166133.2:c.2055G>A NP_001159605.1:p.Leu685= NC_000004.12:78318903:G:A p.(Leu685=) NC_000004.12:78318903:G:A p.(Leu685=) NC_000004.12:78318903:G:A Identity +NM_000095.3:c.1929C>T NP_000086.2:p.Ser643= NC_000019.10:18784348:G:A p.(Ser643=) NC_000019.10:18784348:G:A p.(Ser643=) NC_000019.10:18784348:G:A Identity +NM_000540.3:c.7105C>A NP_000531.2:p.Arg2369= NC_000019.10:38499711:C:A p.(Arg2369=) NC_000019.10:38499711:C:A p.(Arg2369=) NC_000019.10:38499711:C:A Identity +NM_001315529.2:c.7194C>T NP_001302458.1:p.Ser2398= NC_000021.9:46428447:C:T p.(Ser2398=) NC_000021.9:46428447:C:T p.(Ser2398=) NC_000021.9:46428447:C:T Identity +NM_014239.4:c.603T>C NP_055054.1:p.His201= NC_000014.9:75005870:T:C p.(His201=) NC_000014.9:75005870:T:C p.(His201=) NC_000014.9:75005870:T:C Identity +NM_001081676.2:c.1287G>A NP_001075145.1:p.Glu429= NC_000002.12:165154544:C:T p.(Glu429=) NC_000002.12:165154544:C:T p.(Glu429=) NC_000002.12:165154544:C:T Identity +NM_001166102.2:c.168A>G NP_001159574.1:p.Thr56= NC_000011.10:67608590:A:G p.(Thr56=) NC_000011.10:67608590:A:G p.(Thr56=) NC_000011.10:67608590:A:G Identity +NM_001291285.3:c.1362G>T NP_001278214.1:p.Ala454= NC_000004.12:125317772:G:T p.(Ala454=) NC_000004.12:125317772:G:T p.(Ala454=) NC_000004.12:125317772:G:T Identity +NM_030582.4:c.2817G>A NP_085059.2:p.Lys939= NC_000021.9:45493224:G:A p.(Lys939=) NC_000021.9:45493224:G:A p.(Lys939=) NC_000021.9:45493224:G:A Identity +NM_004525.3:c.3480A>G NP_004516.2:p.Arg1160= NC_000002.12:169243472:T:C p.(Arg1160=) NC_000002.12:169243472:T:C p.(Arg1160=) NC_000002.12:169243472:T:C Identity +NM_001164507.2:c.5151C>A NP_001157979.2:p.Arg1717= NC_000002.12:151665419:G:T p.(Arg1717=) NC_000002.12:151665419:G:T p.(Arg1717=) NC_000002.12:151665419:G:T Identity +NM_001182.5:c.1152A>G NP_001173.2:p.Ala384= NC_000005.10:126554334:T:C p.(Ala384=) NC_000005.10:126554334:T:C p.(Ala384=) NC_000005.10:126554334:T:C Identity +NM_001384474.1:c.2889C>T NP_001371403.1:p.Ser963= NC_000018.10:46560254:G:A p.(Ser963=) NC_000018.10:46560254:G:A p.(Ser963=) NC_000018.10:46560254:G:A Identity +NM_000227.6:c.5106C>T NP_000218.3:p.Ile1702= NC_000018.10:23954578:C:T p.(Ile1702=) NC_000018.10:23954578:C:T p.(Ile1702=) NC_000018.10:23954578:C:T Identity +NM_001130455.2:c.5487G>C NP_001123927.1:p.Leu1829= NC_000002.12:71669165:G:C p.(Leu1829=) NC_000002.12:71669165:G:C p.(Leu1829=) NC_000002.12:71669165:G:C Identity +NM_206933.4:c.13956T>G NP_996816.3:p.Thr4652= NC_000001.11:215671148:A:C p.(Thr4652=) NC_000001.11:215671148:A:C p.(Thr4652=) NC_000001.11:215671148:A:C Identity +NM_003235.5:c.915G>A NP_003226.4:p.Arg305= NC_000008.11:132882838:G:A p.(Arg305=) NC_000008.11:132882838:G:A p.(Arg305=) NC_000008.11:132882838:G:A Identity +NM_001164716.1:c.2016G>A NP_001158188.1:p.Lys672= NC_000011.10:64747255:C:T p.(Lys672=) NC_000011.10:64747255:C:T p.(Lys672=) NC_000011.10:64747255:C:T Identity +NM_001080463.2:c.12003T>C NP_001073932.1:p.Ser4001= NC_000011.10:103323932:T:C p.(Ser4001=) NC_000011.10:103323932:T:C p.(Ser4001=) NC_000011.10:103323932:T:C Identity +NM_032888.4:c.3594A>T NP_116277.2:p.Gly1198= NC_000009.12:114270765:A:T p.(Gly1198=) NC_000009.12:114270765:A:T p.(Gly1198=) NC_000009.12:114270765:A:T Identity +NM_014239.4:c.729G>C NP_055054.1:p.Gly243= NC_000014.9:75006611:G:C p.(Gly243=) NC_000014.9:75006611:G:C p.(Gly243=) NC_000014.9:75006611:G:C Identity +NM_001369906.1:c.492C>T NP_001356835.1:p.Thr164= NC_000022.11:23573418:G:A p.(Thr164=) NC_000022.11:23573418:G:A p.(Thr164=) NC_000022.11:23573418:G:A Identity +NM_025081.3:c.285A>G NP_079357.2:p.Gln95= NC_000014.9:24407954:A:G p.(Gln95=) NC_000014.9:24407954:A:G p.(Gln95=) NC_000014.9:24407954:A:G Identity +NM_015384.5:c.444A>G NP_056199.2:p.Ser148= NC_000005.10:36961568:A:G p.(Ser148=) NC_000005.10:36961568:A:G p.(Ser148=) NC_000005.10:36961568:A:G Identity +NM_000721.4:c.6609G>A NP_000712.2:p.Glu2203= NC_000001.11:181798629:G:A p.(Glu2203=) NC_000001.11:181798629:G:A p.(Glu2203=) NC_000001.11:181798629:G:A Identity +NM_014639.4:c.4122C>T NP_055454.1:p.Leu1374= NC_000005.10:95482562:G:A p.(Leu1374=) NC_000005.10:95482562:G:A p.(Leu1374=) NC_000005.10:95482562:G:A Identity +NM_001080463.2:c.2040T>C NP_001073932.1:p.Asn680= NC_000011.10:103133640:T:C p.(Asn680=) NC_000011.10:103133640:T:C p.(Asn680=) NC_000011.10:103133640:T:C Identity +NM_002838.5:c.2496C>G NP_002829.3:p.Leu832= NC_000001.11:198741960:C:G p.(Leu832=) NC_000001.11:198741960:C:G p.(Leu832=) NC_000001.11:198741960:C:G Identity +NM_001303245.3:c.672C>T NP_001290174.1:p.Ile224= NC_000003.12:141555899:C:T p.(Ile224=) NC_000003.12:141555899:C:T p.(Ile224=) NC_000003.12:141555899:C:T Identity +NM_001377456.1:c.9G>T NP_001364385.1:p.Leu3= NC_000016.10:56519853:C:A p.(Leu3=) NC_000016.10:56519853:C:A p.(Leu3=) NC_000016.10:56519853:C:A Identity +NM_006929.5:c.414A>G NP_008860.4:p.Pro138= NC_000006.12:31960490:A:G p.(Pro138=) NC_000006.12:31960490:A:G p.(Pro138=) NC_000006.12:31960490:A:G Identity +NM_003737.4:c.2877A>G NP_003728.1:p.Ser959= NC_000011.10:6632634:T:C p.(Ser959=) NC_000011.10:6632634:T:C p.(Ser959=) NC_000011.10:6632634:T:C Identity +NM_001129.5:c.1335G>A NP_001120.3:p.Glu445= NC_000007.14:44110280:G:A p.(Glu445=) NC_000007.14:44110280:G:A p.(Glu445=) NC_000007.14:44110280:G:A Identity +NM_000833.5:c.2601C>T NP_000824.1:p.Ile867= NC_000016.10:9764942:G:A p.(Ile867=) NC_000016.10:9764942:G:A p.(Ile867=) NC_000016.10:9764942:G:A Identity +NM_000059.4:c.4815T>C NP_000050.3:p.Val1605= NC_000013.11:32339169:T:C p.(Val1605=) NC_000013.11:32339169:T:C p.(Val1605=) NC_000013.11:32339169:T:C Identity +NM_001014763.1:c.729G>A NP_001014763.1:p.Gln243= NC_000019.10:51347040:C:T p.(Gln243=) NC_000019.10:51347040:C:T p.(Gln243=) NC_000019.10:51347040:C:T Identity +NM_000238.4:c.3312C>T NP_000229.1:p.Thr1104= NC_000007.14:150946894:G:A p.(Thr1104=) NC_000007.14:150946894:G:A p.(Thr1104=) NC_000007.14:150946894:G:A Identity +NM_206933.4:c.9057G>A NP_996816.3:p.Glu3019= NC_000001.11:215844494:C:T p.(Glu3019=) NC_000001.11:215844494:C:T p.(Glu3019=) NC_000001.11:215844494:C:T Identity +NM_152383.5:c.2088C>T NP_689596.4:p.Tyr696= NC_000002.12:232333916:C:T p.(Tyr696=) NC_000002.12:232333916:C:T p.(Tyr696=) NC_000002.12:232333916:C:T Identity +NM_001382394.1:c.756A>G NP_001369323.1:p.Leu252= NC_000002.12:39051230:T:C p.(Leu252=) NC_000002.12:39051230:T:C p.(Leu252=) NC_000002.12:39051230:T:C Identity +NM_001280787.1:c.321T>C NP_001267716.1:p.Phe107= NC_000009.12:133352548:A:G p.(Phe107=) NC_000009.12:133352548:A:G p.(Phe107=) NC_000009.12:133352548:A:G Identity +NM_001376.5:c.7386G>A NP_001367.2:p.Leu2462= NC_000014.9:102015998:G:A p.(Leu2462=) NC_000014.9:102015998:G:A p.(Leu2462=) NC_000014.9:102015998:G:A Identity +NM_006205.3:c.165G>T NP_006196.1:p.Gly55= NC_000012.12:14979208:G:T p.(Gly55=) NC_000012.12:14979208:G:T p.(Gly55=) NC_000012.12:14979208:G:T Identity +NM_206933.4:c.14742G>A NP_996816.3:p.Glu4914= NC_000001.11:215647570:C:T p.(Glu4914=) NC_000001.11:215647570:C:T p.(Glu4914=) NC_000001.11:215647570:C:T Identity +NM_001160210.2:c.1470C>T NP_001153682.1:p.Cys490= NC_000007.14:96131866:G:A p.(Cys490=) NC_000007.14:96131866:G:A p.(Cys490=) NC_000007.14:96131866:G:A Identity +NM_138694.4:c.6000C>G NP_619639.3:p.Ser2000= NC_000006.12:51934230:G:C p.(Ser2000=) NC_000006.12:51934230:G:C p.(Ser2000=) NC_000006.12:51934230:G:C Identity +NM_001039876.3:c.531G>A NP_001034965.1:p.Glu177= NC_000019.10:36006836:C:T p.(Glu177=) NC_000019.10:36006836:C:T p.(Glu177=) NC_000019.10:36006836:C:T Identity +NM_000371.4:c.180C>T NP_000362.1:p.Thr60= NC_000018.10:31593005:C:T p.(Thr60=) NC_000018.10:31593005:C:T p.(Thr60=) NC_000018.10:31593005:C:T Identity +NM_024409.4:c.240G>A NP_077720.1:p.Lys80= NC_000002.12:231925565:C:T p.(Lys80=) NC_000002.12:231925565:C:T p.(Lys80=) NC_000002.12:231925565:C:T Identity +NM_001080114.2:c.394C>T NP_001073583.1:p.Leu132= NC_000010.11:86687117:C:T p.(Leu132=) NC_000010.11:86687117:C:T p.(Leu132=) NC_000010.11:86687117:C:T Identity +NM_001349896.1:c.792A>G NP_001336825.1:p.Glu264= NC_000022.11:26465465:T:C p.(Glu264=) NC_000022.11:26465465:T:C p.(Glu264=) NC_000022.11:26465465:T:C Identity +NM_001282237.2:c.1110G>A NP_001269166.1:p.Ala370= NC_000014.9:99175722:C:T p.(Ala370=) NC_000014.9:99175722:C:T p.(Ala370=) NC_000014.9:99175722:C:T Identity +NM_001958.5:c.288C>A NP_001949.1:p.Arg96= NC_000020.11:63495891:G:T p.(Arg96=) NC_000020.11:63495891:G:T p.(Arg96=) NC_000020.11:63495891:G:T Identity +NM_001290048.2:c.1566T>A NP_001276977.1:p.Ala522= NC_000011.10:63629324:A:T p.(Ala522=) NC_000011.10:63629324:A:T p.(Ala522=) NC_000011.10:63629324:A:T Identity +NM_004588.5:c.303C>T NP_004579.1:p.Phe101= NC_000011.10:118168229:G:A p.(Phe101=) NC_000011.10:118168229:G:A p.(Phe101=) NC_000011.10:118168229:G:A Identity +NM_032119.4:c.18402G>A NP_115495.3:p.Leu6134= NC_000005.10:91102309:G:A p.(Leu6134=) NC_000005.10:91102309:G:A p.(Leu6134=) NC_000005.10:91102309:G:A Identity +NM_003922.4:c.6498A>C NP_003913.3:p.Ala2166= NC_000015.10:63680127:T:G p.(Ala2166=) NC_000015.10:63680127:T:G p.(Ala2166=) NC_000015.10:63680127:T:G Identity +NM_001280787.1:c.279C>T NP_001267716.1:p.Asp93= NC_000009.12:133352590:G:A p.(Asp93=) NC_000009.12:133352590:G:A p.(Asp93=) NC_000009.12:133352590:G:A Identity +NM_012463.4:c.1639C>T NP_036595.2:p.Leu547= NC_000012.12:123747639:C:T p.(Leu547=) NC_000012.12:123747639:C:T p.(Leu547=) NC_000012.12:123747639:C:T Identity +NM_001267578.2:c.63C>T NP_001254507.1:p.Pro21= NC_000001.11:179882564:C:T p.(Pro21=) NC_000001.11:179882564:C:T p.(Pro21=) NC_000001.11:179882564:C:T Identity +NM_003482.4:c.9981G>A NP_003473.3:p.Gln3327= NC_000012.12:49037374:C:T p.(Gln3327=) NC_000012.12:49037374:C:T p.(Gln3327=) NC_000012.12:49037374:C:T Identity +NM_005112.5:c.504C>T NP_005103.2:p.Asn168= NC_000004.12:10087733:G:A p.(Asn168=) NC_000004.12:10087733:G:A p.(Asn168=) NC_000004.12:10087733:G:A Identity +NM_032888.4:c.5062C>A NP_116277.2:p.Arg1688= NC_000009.12:114306642:C:A p.(Arg1688=) NC_000009.12:114306642:C:A p.(Arg1688=) NC_000009.12:114306642:C:A Identity +NM_000781.3:c.1554A>G NP_000772.2:p.Ala518= NC_000015.10:74337983:T:C p.(Ala518=) NC_000015.10:74337983:T:C p.(Ala518=) NC_000015.10:74337983:T:C Identity +NM_003038.5:c.414C>T NP_003029.2:p.Ile138= NC_000002.12:64990056:C:T p.(Ile138=) NC_000002.12:64990056:C:T p.(Ile138=) NC_000002.12:64990056:C:T Identity +NM_001128159.3:c.1479C>T NP_001121631.1:p.Pro493= NC_000017.11:562579:G:A p.(Pro493=) NC_000017.11:562579:G:A p.(Pro493=) NC_000017.11:562579:G:A Identity +NM_001122955.4:c.1371C>A NP_001116427.1:p.Pro457= NC_000011.10:62690384:G:T p.(Pro457=) NC_000011.10:62690384:G:T p.(Pro457=) NC_000011.10:62690384:G:T Identity +NM_005120.3:c.2082G>A NP_005111.2:p.Glu694= NC_000023.11:71125001:G:A p.(Glu694=) NC_000023.11:71125001:G:A p.(Glu694=) NC_000023.11:71125001:G:A Identity +NM_000289.6:c.1761A>C NP_000280.1:p.Ala587= NC_000012.12:48142888:A:C p.(Ala587=) NC_000012.12:48142888:A:C p.(Ala587=) NC_000012.12:48142888:A:C Identity +NM_016239.4:c.5370C>T NP_057323.3:p.Pro1790= NC_000017.11:18140795:C:T p.(Pro1790=) NC_000017.11:18140795:C:T p.(Pro1790=) NC_000017.11:18140795:C:T Identity +NM_017934.7:c.3960A>G NP_060404.4:p.Ala1320= NC_000006.12:78954906:T:C p.(Ala1320=) NC_000006.12:78954906:T:C p.(Ala1320=) NC_000006.12:78954906:T:C Identity +NM_001324192.1:c.675G>A NP_001311121.1:p.Leu225= NC_000020.11:3907971:G:A p.(Leu225=) NC_000020.11:3907971:G:A p.(Leu225=) NC_000020.11:3907971:G:A Identity +NM_000275.3:c.511C>T NP_000266.2:p.Leu171= NC_000015.10:28027874:G:A p.(Leu171=) NC_000015.10:28027874:G:A p.(Leu171=) NC_000015.10:28027874:G:A Identity +NM_000019.4:c.1260T>C NP_000010.1:p.Ser420= NC_000011.10:108147365:T:C p.(Ser420=) NC_000011.10:108147365:T:C p.(Ser420=) NC_000011.10:108147365:T:C Identity +NM_001317184.2:c.2292G>C NP_001304113.1:p.Pro764= NC_000016.10:68833324:G:C p.(Pro764=) NC_000016.10:68833324:G:C p.(Pro764=) NC_000016.10:68833324:G:C Identity +NM_000092.5:c.4719C>A NP_000083.3:p.Ala1573= NC_000002.12:227008107:G:T p.(Ala1573=) NC_000002.12:227008107:G:T p.(Ala1573=) NC_000002.12:227008107:G:T Identity +LRG_553t1:c.3531A>T LRG_553p1:p.Ser1177= NC_000001.11:169541558:T:A ERR:Data provider error: ValueError: Transcript LRG_553t1 not found ERR:Data provider error: ValueError: Transcript LRG_553t1 not found ERR:AlignmentMapper(tx_ac=LRG_553t1, alt_ac=LRG_553t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_553t1, alt_ac=LRG_553t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_553t1 not found +NM_001287489.2:c.1548C>T NP_001274418.1:p.Asp516= NC_000002.12:26482436:G:A p.(Asp516=) NC_000002.12:26482436:G:A p.(Asp516=) NC_000002.12:26482436:G:A Identity +NM_032888.4:c.1698C>G NP_116277.2:p.Val566= NC_000009.12:114169252:C:G p.(Val566=) NC_000009.12:114169252:C:G p.(Val566=) NC_000009.12:114169252:C:G Identity +NM_001204824.2:c.2226T>C NP_001191753.1:p.Asp742= NC_000008.11:132129294:A:G p.(Asp742=) NC_000008.11:132129294:A:G p.(Asp742=) NC_000008.11:132129294:A:G Identity +NM_000343.4:c.915G>A NP_000334.1:p.Lys305= NC_000022.11:32084928:G:A p.(Lys305=) NC_000022.11:32084928:G:A p.(Lys305=) NC_000022.11:32084928:G:A Identity +NM_000215.4:c.2868C>T NP_000206.2:p.Leu956= NC_000019.10:17831337:G:A p.(Leu956=) NC_000019.10:17831337:G:A p.(Leu956=) NC_000019.10:17831337:G:A Identity +NM_000456.3:c.87C>T NP_000447.2:p.Ala29= NC_000012.12:56002578:C:T p.(Ala29=) NC_000012.12:56002578:C:T p.(Ala29=) NC_000012.12:56002578:C:T Identity +NM_001315529.2:c.3774C>G NP_001302458.1:p.Ala1258= NC_000021.9:46391287:C:G p.(Ala1258=) NC_000021.9:46391287:C:G p.(Ala1258=) NC_000021.9:46391287:C:G Identity +NM_001184976.2:c.1078T>C NP_001171905.1:p.Leu360= NC_000012.12:54517827:T:C p.(Leu360=) NC_000012.12:54517827:T:C p.(Leu360=) NC_000012.12:54517827:T:C Identity +NM_001408.3:c.534C>T NP_001399.1:p.Ala178= NC_000001.11:109250612:C:T p.(Ala178=) NC_000001.11:109250612:C:T p.(Ala178=) NC_000001.11:109250612:C:T Identity +NM_001378414.1:c.2427G>T NP_001365343.1:p.Ala809= NC_000002.12:239087575:C:A p.(Ala809=) NC_000002.12:239087575:C:A p.(Ala809=) NC_000002.12:239087575:C:A Identity +NM_000270.4:c.54G>A NP_000261.2:p.Leu18= NC_000014.9:20472349:G:A p.(Leu18=) NC_000014.9:20472349:G:A p.(Leu18=) NC_000014.9:20472349:G:A Identity +NM_001145138.2:c.1104G>A NP_001138610.1:p.Gly368= NC_000011.10:65654920:C:T p.(Gly368=) NC_000011.10:65654920:C:T p.(Gly368=) NC_000011.10:65654920:C:T Identity +NM_001291969.2:c.357C>T NP_001278898.1:p.Val119= NC_000006.12:43601055:C:T p.(Val119=) NC_000006.12:43601055:C:T p.(Val119=) NC_000006.12:43601055:C:T Identity +NM_001077525.3:c.1179C>T NP_001070993.1:p.Cys393= NC_000003.12:9687834:C:T p.(Cys393=) NC_000003.12:9687834:C:T p.(Cys393=) NC_000003.12:9687834:C:T Identity +NM_000462.5:c.399A>G NP_000453.2:p.Val133= NC_000015.10:25371783:T:C p.(Val133=) NC_000015.10:25371783:T:C p.(Val133=) NC_000015.10:25371783:T:C Identity +NM_001080463.2:c.3450C>T NP_001073932.1:p.Ile1150= NC_000011.10:103154597:C:T p.(Ile1150=) NC_000011.10:103154597:C:T p.(Ile1150=) NC_000011.10:103154597:C:T Identity +NM_000051.4:c.24_29dup NP_000042.3:p.Leu9_Ile10insMetLeu NC_000011.10:108227646:TGCTTAT:TGCTTATGCTTAT p.(Leu9_Ile10insMetLeu) NC_000011.10:108227646:TGCTTAT:TGCTTATGCTTAT p.(Leu9_Ile10insMetLeu) ERR:SPDI Identity +NM_000383.4:c.867C>G NP_000374.1:p.Pro289= NC_000021.9:44290055:C:G p.(Pro289=) NC_000021.9:44290055:C:G p.(Pro289=) NC_000021.9:44290055:C:G Identity +NM_001145337.3:c.261C>T NP_001138809.1:p.Gly87= NC_000012.12:68816915:C:T p.(Gly87=) NC_000012.12:68816915:C:T p.(Gly87=) NC_000012.12:68816915:C:T Identity +NM_001290185.2:c.2727C>G NP_001277114.1:p.Ala909= NC_000011.10:119081553:C:G p.(Ala909=) NC_000011.10:119081553:C:G p.(Ala909=) NC_000011.10:119081553:C:G Identity +NM_000465.4:c.972T>C NP_000456.2:p.His324= NC_000002.12:214780901:A:G p.(His324=) NC_000002.12:214780901:A:G p.(His324=) NC_000002.12:214780901:A:G Identity +NM_013254.4:c.780T>C NP_037386.1:p.Ser260= NC_000012.12:64480089:T:C p.(Ser260=) NC_000012.12:64480089:T:C p.(Ser260=) NC_000012.12:64480089:T:C Identity +NM_001142463.3:c.99T>C NP_001135935.1:p.Ala33= NC_000023.11:154765457:T:C p.(Ala33=) NC_000023.11:154765457:T:C p.(Ala33=) NC_000023.11:154765457:T:C Identity +NM_001098.3:c.1401A>G NP_001089.1:p.Thr467= NC_000022.11:41523859:A:G p.(Thr467=) NC_000022.11:41523859:A:G p.(Thr467=) NC_000022.11:41523859:A:G Identity +NM_001318859.2:c.22C>T NP_001305788.1:p.Leu8= NC_000002.12:73926931:C:T p.(Leu8=) NC_000002.12:73926931:C:T p.(Leu8=) NC_000002.12:73926931:C:T Identity +NM_032119.4:c.2139T>C NP_115495.3:p.Ser713= NC_000005.10:90637846:T:C p.(Ser713=) NC_000005.10:90637846:T:C p.(Ser713=) NC_000005.10:90637846:T:C Identity +NM_000019.4:c.1176C>G NP_000010.1:p.Ala392= NC_000011.10:108147281:C:G p.(Ala392=) NC_000011.10:108147281:C:G p.(Ala392=) NC_000011.10:108147281:C:G Identity +NM_000352.6:c.2733T>A NP_000343.2:p.Gly911= NC_000011.10:17408478:A:T p.(Gly911=) NC_000011.10:17408478:A:T p.(Gly911=) NC_000011.10:17408478:A:T Identity +NM_001171930.2:c.2715G>T NP_001165401.1:p.Ala905= NC_000010.11:71702675:G:T p.(Ala905=) NC_000010.11:71702675:G:T p.(Ala905=) NC_000010.11:71702675:G:T Identity +NM_000237.3:c.1074C>A NP_000228.1:p.Thr358= NC_000008.11:19959314:C:A p.(Thr358=) NC_000008.11:19959314:C:A p.(Thr358=) NC_000008.11:19959314:C:A Identity +NM_001079843.3:c.2247G>A NP_001073312.1:p.Ala749= NC_000001.11:10653809:C:T p.(Ala749=) NC_000001.11:10653809:C:T p.(Ala749=) NC_000001.11:10653809:C:T Identity +NM_001362843.2:c.6201C>T NP_001349772.1:p.Ala2067= NC_000022.11:41177989:C:T p.(Ala2067=) NC_000022.11:41177989:C:T p.(Ala2067=) NC_000022.11:41177989:C:T Identity +NM_000285.4:c.1056C>T NP_000276.2:p.Asp352= NC_000019.10:33391390:G:A p.(Asp352=) NC_000019.10:33391390:G:A p.(Asp352=) NC_000019.10:33391390:G:A Identity +NM_001080414.4:c.2436G>A NP_001073883.2:p.Gln812= NC_000014.9:91313379:C:T p.(Gln812=) NC_000014.9:91313379:C:T p.(Gln812=) NC_000014.9:91313379:C:T Identity +NM_001203247.2:c.939A>T NP_001190176.1:p.Thr313= NC_000007.14:148819640:T:A p.(Thr313=) NC_000007.14:148819640:T:A p.(Thr313=) NC_000007.14:148819640:T:A Identity +NM_001195573.1:c.3648A>C NP_001182502.1:p.Ser1216= NC_000014.9:95103747:T:G p.(Ser1216=) NC_000014.9:95103747:T:G p.(Ser1216=) NC_000014.9:95103747:T:G Identity +NM_000360.4:c.1458G>A NP_000351.2:p.Leu486= NC_000011.10:2164268:C:T p.(Leu486=) NC_000011.10:2164268:C:T p.(Leu486=) NC_000011.10:2164268:C:T Identity +NM_005012.4:c.615C>G NP_005003.2:p.Ala205= NC_000001.11:64140112:C:G p.(Ala205=) NC_000001.11:64140112:C:G p.(Ala205=) NC_000001.11:64140112:C:G Identity +NM_016239.4:c.2412C>T NP_057323.3:p.Gly804= NC_000017.11:18121211:C:T p.(Gly804=) NC_000017.11:18121211:C:T p.(Gly804=) NC_000017.11:18121211:C:T Identity +NM_001291415.2:c.1896C>T NP_001278344.1:p.Ser632= NC_000023.11:45063633:C:T p.(Ser632=) NC_000023.11:45063633:C:T p.(Ser632=) NC_000023.11:45063633:C:T Identity +NM_001166418.2:c.111G>C NP_001159890.1:p.Arg37= NC_000023.11:72572650:C:G p.(Arg37=) NC_000023.11:72572650:C:G p.(Arg37=) NC_000023.11:72572650:C:G Identity +NM_001367624.2:c.1995A>G NP_001354553.1:p.Pro665= NC_000016.10:88429464:A:G p.(Pro665=) NC_000016.10:88429464:A:G p.(Pro665=) NC_000016.10:88429464:A:G Identity +NM_000294.3:c.756C>T NP_000285.1:p.Phe252= NC_000016.10:30756474:C:T p.(Phe252=) NC_000016.10:30756474:C:T p.(Phe252=) NC_000016.10:30756474:C:T Identity +NM_001302453.1:c.840C>T NP_001289382.1:p.Thr280= NC_000019.10:11423990:G:A p.(Thr280=) NC_000019.10:11423990:G:A p.(Thr280=) NC_000019.10:11423990:G:A Identity +NM_015657.4:c.6294G>T NP_056472.2:p.Pro2098= NC_000002.12:214945095:C:A p.(Pro2098=) NC_000002.12:214945095:C:A p.(Pro2098=) NC_000002.12:214945095:C:A Identity +NM_001160227.2:c.5940C>G NP_001153699.1:p.Arg1980= NC_000015.10:44572746:G:C p.(Arg1980=) NC_000015.10:44572746:G:C p.(Arg1980=) NC_000015.10:44572746:G:C Identity +NM_000400.4:c.1176T>C NP_000391.1:p.Ala392= NC_000019.10:45361584:A:G p.(Ala392=) NC_000019.10:45361584:A:G p.(Ala392=) NC_000019.10:45361584:A:G Identity +NM_003906.5:c.5103G>A NP_003897.2:p.Gln1701= NC_000021.9:46243657:C:T p.(Gln1701=) NC_000021.9:46243657:C:T p.(Gln1701=) NC_000021.9:46243657:C:T Identity +NM_001098268.2:c.672C>T NP_001091738.1:p.Val224= NC_000013.11:108210596:G:A p.(Val224=) NC_000013.11:108210596:G:A p.(Val224=) NC_000013.11:108210596:G:A Identity +NM_000400.4:c.1104G>A NP_000391.1:p.Gln368= NC_000019.10:45363756:C:T p.(Gln368=) NC_000019.10:45363756:C:T p.(Gln368=) NC_000019.10:45363756:C:T Identity +NM_001008540.2:c.636T>C NP_001008540.1:p.Leu212= NC_000002.12:136115303:A:G p.(Leu212=) NC_000002.12:136115303:A:G p.(Leu212=) NC_000002.12:136115303:A:G Identity +NM_002204.4:c.24G>A NP_002195.1:p.Ala8= NC_000017.11:50056462:G:A p.(Ala8=) NC_000017.11:50056462:G:A p.(Ala8=) NC_000017.11:50056462:G:A Identity +NM_001146039.2:c.603T>C NP_001139511.2:p.Ala201= NC_000001.11:170544785:T:C p.(Ala201=) NC_000001.11:170544785:T:C p.(Ala201=) NC_000001.11:170544785:T:C Identity +NM_001378454.1:c.5034C>T NP_001365383.1:p.Thr1678= NC_000002.12:73451560:C:T p.(Thr1678=) NC_000002.12:73451560:C:T p.(Thr1678=) NC_000002.12:73451560:C:T Identity +NM_207361.6:c.8922A>G NP_997244.4:p.Leu2974= NC_000013.11:38878892:A:G p.(Leu2974=) NC_000013.11:38878892:A:G p.(Leu2974=) NC_000013.11:38878892:A:G Identity +NM_001130823.3:c.825G>A NP_001124295.1:p.Lys275= NC_000019.10:10166663:C:T p.(Lys275=) NC_000019.10:10166663:C:T p.(Lys275=) NC_000019.10:10166663:C:T Identity +NM_207361.6:c.2331C>G NP_997244.4:p.Ala777= NC_000013.11:38689674:C:G p.(Ala777=) NC_000013.11:38689674:C:G p.(Ala777=) NC_000013.11:38689674:C:G Identity +NM_207361.6:c.6129_6142dup NP_997244.4:p.Arg2048delinsProGlnTer NC_000013.11:38846681:CACAGTGAGGTCTC:CACAGTGAGGTCTCCACAGTGAGGTCTC p.(Arg2048ProfsTer3) NC_000013.11:38846681:CACAGTGAGGTCTC:CACAGTGAGGTCTCCACAGTGAGGTCTC p.(Arg2048ProfsTer3) ERR:SPDI Analogous +NM_001367624.2:c.2514C>T NP_001354553.1:p.Ala838= NC_000016.10:88429983:C:T p.(Ala838=) NC_000016.10:88429983:C:T p.(Ala838=) NC_000016.10:88429983:C:T Identity +NM_001142800.2:c.6099T>C NP_001136272.1:p.Asn2033= NC_000006.12:64307061:A:G p.(Asn2033=) NC_000006.12:64307061:A:G p.(Asn2033=) NC_000006.12:64307061:A:G Identity +NM_001080463.2:c.5064T>C NP_001073932.1:p.Tyr1688= NC_000011.10:103170202:T:C p.(Tyr1688=) NC_000011.10:103170202:T:C p.(Tyr1688=) NC_000011.10:103170202:T:C Identity +NM_001082959.2:c.1257C>T NP_001076428.1:p.Ser419= NC_000012.12:124786500:G:A p.(Ser419=) NC_000012.12:124786500:G:A p.(Ser419=) NC_000012.12:124786500:G:A Identity +NM_001008222.3:c.396C>T NP_001008223.1:p.Asn132= NC_000023.11:129823769:G:A p.(Asn132=) NC_000023.11:129823769:G:A p.(Asn132=) NC_000023.11:129823769:G:A Identity +NM_000094.4:c.5655C>T NP_000085.1:p.Pro1885= NC_000003.12:48576720:G:A p.(Pro1885=) NC_000003.12:48576720:G:A p.(Pro1885=) NC_000003.12:48576720:G:A Identity +NM_001287489.2:c.5298G>A NP_001274418.1:p.Leu1766= NC_000002.12:26461930:C:T p.(Leu1766=) NC_000002.12:26461930:C:T p.(Leu1766=) NC_000002.12:26461930:C:T Identity +NM_001099400.2:c.513A>G NP_001092870.1:p.Val171= NC_000007.14:94618906:T:C p.(Val171=) NC_000007.14:94618906:T:C p.(Val171=) NC_000007.14:94618906:T:C Identity +NM_001042465.3:c.423C>A NP_001035930.1:p.Leu141= NC_000010.11:71829029:G:T p.(Leu141=) NC_000010.11:71829029:G:T p.(Leu141=) NC_000010.11:71829029:G:T Identity +NM_000302.4:c.486C>A NP_000293.2:p.Pro162= NC_000001.11:11952641:C:A p.(Pro162=) NC_000001.11:11952641:C:A p.(Pro162=) NC_000001.11:11952641:C:A Identity +NM_001256849.1:c.3150C>A NP_001243778.1:p.Arg1050= NC_000019.10:50417200:C:A p.(Arg1050=) NC_000019.10:50417200:C:A p.(Arg1050=) NC_000019.10:50417200:C:A Identity +NM_001080463.2:c.10143C>T NP_001073932.1:p.Asn3381= NC_000011.10:103253363:C:T p.(Asn3381=) NC_000011.10:103253363:C:T p.(Asn3381=) NC_000011.10:103253363:C:T Identity +NM_001160036.2:c.1980C>T NP_001153508.1:p.Asn660= NC_000008.11:23015690:C:T p.(Asn660=) NC_000008.11:23015690:C:T p.(Asn660=) NC_000008.11:23015690:C:T Identity +NM_001184728.3:c.1482C>T NP_001171657.1:p.Thr494= NC_000020.11:45425738:C:T p.(Thr494=) NC_000020.11:45425738:C:T p.(Thr494=) NC_000020.11:45425738:C:T Identity +NM_001379468.1:c.99G>A NP_001366397.1:p.Arg33= NC_000003.12:196707838:C:T p.(Arg33=) NC_000003.12:196707838:C:T p.(Arg33=) NC_000003.12:196707838:C:T Identity +NM_000443.4:c.1806G>A NP_000434.1:p.Gly602= NC_000007.14:87431490:C:T p.(Gly602=) NC_000007.14:87431490:C:T p.(Gly602=) NC_000007.14:87431490:C:T Identity +NM_001306079.2:c.3864C>T NP_001293008.1:p.Phe1288= NC_000002.12:27235618:C:T p.(Phe1288=) NC_000002.12:27235618:C:T p.(Phe1288=) NC_000002.12:27235618:C:T Identity +NM_001425160.1:c.414C>T NP_001412089.1:p.Ile138= NC_000011.10:126273075:C:T p.(Ile138=) NC_000011.10:126273075:C:T p.(Ile138=) NC_000011.10:126273075:C:T Identity +NM_017890.5:c.9798T>C NP_060360.3:p.Leu3266= NC_000008.11:99835304:T:C p.(Leu3266=) NC_000008.11:99835304:T:C p.(Leu3266=) NC_000008.11:99835304:T:C Identity +NM_001098268.2:c.1545G>C NP_001091738.1:p.Leu515= NC_000013.11:108209723:C:G p.(Leu515=) NC_000013.11:108209723:C:G p.(Leu515=) NC_000013.11:108209723:C:G Identity +NM_007055.4:c.1983C>T NP_008986.2:p.Asn661= NC_000010.11:78007792:G:A p.(Asn661=) NC_000010.11:78007792:G:A p.(Asn661=) NC_000010.11:78007792:G:A Identity +NM_001136024.4:c.3135T>C NP_001129496.1:p.Thr1045= NC_000023.11:17727771:T:C p.(Thr1045=) NC_000023.11:17727771:T:C p.(Thr1045=) NC_000023.11:17727771:T:C Identity +NM_000181.4:c.1854A>G NP_000172.2:p.Ala618= NC_000007.14:65960998:T:C p.(Ala618=) NC_000007.14:65960998:T:C p.(Ala618=) NC_000007.14:65960998:T:C Identity +NM_001276479.2:c.372G>A NP_001263408.1:p.Thr124= NC_000019.10:5713207:C:T p.(Thr124=) NC_000019.10:5713207:C:T p.(Thr124=) NC_000019.10:5713207:C:T Identity +NM_004482.4:c.1284C>T NP_004473.2:p.Gly428= NC_000002.12:165757154:G:A p.(Gly428=) NC_000002.12:165757154:G:A p.(Gly428=) NC_000002.12:165757154:G:A Identity +NM_001315529.2:c.9273A>G NP_001302458.1:p.Arg3091= NC_000021.9:46444717:A:G p.(Arg3091=) NC_000021.9:46444717:A:G p.(Arg3091=) NC_000021.9:46444717:A:G Identity +NM_000890.5:c.813G>T NP_000881.3:p.Val271= NC_000011.10:128912085:G:T p.(Val271=) NC_000011.10:128912085:G:T p.(Val271=) NC_000011.10:128912085:G:T Identity +NM_002439.5:c.2217T>C NP_002430.3:p.Asn739= NC_000005.10:80768966:T:C p.(Asn739=) NC_000005.10:80768966:T:C p.(Asn739=) NC_000005.10:80768966:T:C Identity +NM_001167961.2:c.402C>A NP_001161433.1:p.Ile134= NC_000007.14:66638339:C:A p.(Ile134=) NC_000007.14:66638339:C:A p.(Ile134=) NC_000007.14:66638339:C:A Identity +NM_001271022.2:c.1842C>T NP_001257951.1:p.Cys614= NC_000003.12:48464997:C:T p.(Cys614=) NC_000003.12:48464997:C:T p.(Cys614=) NC_000003.12:48464997:C:T Identity +NM_002187.3:c.951A>G NP_002178.2:p.Ser317= NC_000005.10:159316720:T:C p.(Ser317=) NC_000005.10:159316720:T:C p.(Ser317=) NC_000005.10:159316720:T:C Identity +NM_001207006.3:c.336A>C NP_001193935.1:p.Ala112= NC_000004.12:122615705:T:G p.(Ala112=) NC_000004.12:122615705:T:G p.(Ala112=) NC_000004.12:122615705:T:G Identity +NM_000227.6:c.1521T>C NP_000218.3:p.Asn507= NC_000018.10:23903961:T:C p.(Asn507=) NC_000018.10:23903961:T:C p.(Asn507=) NC_000018.10:23903961:T:C Identity +NM_016239.4:c.471C>T NP_057323.3:p.Asp157= NC_000017.11:18119270:C:T p.(Asp157=) NC_000017.11:18119270:C:T p.(Asp157=) NC_000017.11:18119270:C:T Identity +NM_000339.3:c.2817C>A NP_000330.3:p.Val939= NC_000016.10:56902441:C:A p.(Val939=) NC_000016.10:56902441:C:A p.(Val939=) NC_000016.10:56902441:C:A Identity +NM_000260.4:c.3081C>T NP_000251.3:p.Leu1027= NC_000011.10:77182126:C:T p.(Leu1027=) NC_000011.10:77182126:C:T p.(Leu1027=) NC_000011.10:77182126:C:T Identity +NM_007312.3:c.63C>A NP_009296.1:p.Gly21= NC_000003.12:50302893:G:T ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_000255.4:c.1467A>G NP_000246.2:p.Val489= NC_000006.12:49447762:T:C p.(Val489=) NC_000006.12:49447762:T:C p.(Val489=) NC_000006.12:49447762:T:C Identity +NM_000941.2:c.1770G>A NP_000932.3:p.Ala590= NC_000007.14:75986022:G:A ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_001289164.3:c.1827A>G NP_001276093.1:p.Ter609= NC_000002.12:74533605:T:C p.(Ter609=) NC_000002.12:74533605:T:C p.(Ter609Ter) NC_000002.12:74533605:T:C Identity +NM_001184900.3:c.426C>T NP_001171829.1:p.Ser142= NC_000019.10:48231775:G:A p.(Ser142=) NC_000019.10:48231775:G:A p.(Ser142=) NC_000019.10:48231775:G:A Identity +NM_019066.5:c.411T>G NP_061939.3:p.Ala137= NC_000015.10:23647331:A:C p.(Ala137=) NC_000015.10:23647331:A:C p.(Ala137=) NC_000015.10:23647331:A:C Identity +NM_001362843.2:c.3180C>A NP_001349772.1:p.Ile1060= NC_000022.11:41155109:C:A p.(Ile1060=) NC_000022.11:41155109:C:A p.(Ile1060=) NC_000022.11:41155109:C:A Identity +NM_006031.6:c.46A>C NP_006022.3:p.Arg16= NC_000021.9:46324273:A:C p.(Arg16=) NC_000021.9:46324273:A:C p.(Arg16=) NC_000021.9:46324273:A:C Identity +NM_001425160.1:c.975C>A NP_001412089.1:p.Thr325= NC_000011.10:126276192:C:A p.(Thr325=) NC_000011.10:126276192:C:A p.(Thr325=) NC_000011.10:126276192:C:A Identity +NM_000540.3:c.6474C>T NP_000531.2:p.Cys2158= NC_000019.10:38494550:C:T p.(Cys2158=) NC_000019.10:38494550:C:T p.(Cys2158=) NC_000019.10:38494550:C:T Identity +NM_001306079.2:c.6369C>G NP_001293008.1:p.Pro2123= NC_000002.12:27243274:C:G p.(Pro2123=) NC_000002.12:27243274:C:G p.(Pro2123=) NC_000002.12:27243274:C:G Identity +NM_000152.5:c.1260C>G NP_000143.2:p.Gly420= NC_000017.11:80108761:C:G p.(Gly420=) NC_000017.11:80108761:C:G p.(Gly420=) NC_000017.11:80108761:C:G Identity +NM_006493.4:c.669G>A NP_006484.2:p.Glu223= NC_000013.11:77000560:G:A p.(Glu223=) NC_000013.11:77000560:G:A p.(Glu223=) NC_000013.11:77000560:G:A Identity +NM_001199642.1:c.937A>C NP_001186571.1:p.Arg313= NC_000003.12:123325422:T:G p.(Arg313=) NC_000003.12:123325422:T:G p.(Arg313=) NC_000003.12:123325422:T:G Identity +NM_000294.3:c.492T>C NP_000285.1:p.Asn164= NC_000016.10:30753492:T:C p.(Asn164=) NC_000016.10:30753492:T:C p.(Asn164=) NC_000016.10:30753492:T:C Identity +NM_000403.4:c.369G>C NP_000394.2:p.Gly123= NC_000001.11:23797853:C:G p.(Gly123=) NC_000001.11:23797853:C:G p.(Gly123=) NC_000001.11:23797853:C:G Identity +NM_001142800.2:c.1650T>C NP_001136272.1:p.Tyr550= NC_000006.12:65335095:A:G p.(Tyr550=) NC_000006.12:65335095:A:G p.(Tyr550=) NC_000006.12:65335095:A:G Identity +NM_001290307.3:c.1542C>G NP_001277236.1:p.Val514= NC_000005.10:138917893:C:G p.(Val514=) NC_000005.10:138917893:C:G p.(Val514=) NC_000005.10:138917893:C:G Identity +NM_012213.3:c.375C>T NP_036345.2:p.Ala125= NC_000016.10:83899518:C:T p.(Ala125=) NC_000016.10:83899518:C:T p.(Ala125=) NC_000016.10:83899518:C:T Identity +NM_001174089.2:c.844T>C NP_001167560.1:p.Leu282= NC_000020.11:3231433:A:G p.(Leu282=) NC_000020.11:3231433:A:G p.(Leu282=) NC_000020.11:3231433:A:G Identity +NM_001909.5:c.114G>A NP_001900.1:p.Glu38= NC_000011.10:1761422:C:T p.(Glu38=) NC_000011.10:1761422:C:T p.(Glu38=) NC_000011.10:1761422:C:T Identity +NM_000295.5:c.618T>C NP_000286.3:p.Phe206= NC_000014.9:94382619:A:G p.(Phe206=) NC_000014.9:94382619:A:G p.(Phe206=) NC_000014.9:94382619:A:G Identity +NM_001002019.3:c.729C>T NP_001002019.1:p.Pro243= NC_000012.12:131941559:C:T p.(Pro243=) NC_000012.12:131941559:C:T p.(Pro243=) NC_000012.12:131941559:C:T Identity +NM_000274.4:c.141A>G NP_000265.1:p.Glu47= NC_000010.11:124412030:T:C p.(Glu47=) NC_000010.11:124412030:T:C p.(Glu47=) NC_000010.11:124412030:T:C Identity +NM_001113491.2:c.813G>A NP_001106963.1:p.Lys271= NC_000017.11:77482234:G:A p.(Lys271=) NC_000017.11:77482234:G:A p.(Lys271=) NC_000017.11:77482234:G:A Identity +NM_206933.4:c.5307G>C NP_996816.3:p.Leu1769= NC_000001.11:216078353:C:G p.(Leu1769=) NC_000001.11:216078353:C:G p.(Leu1769=) NC_000001.11:216078353:C:G Identity +NM_000092.5:c.4191T>A NP_000083.3:p.Pro1397= NC_000002.12:227022072:A:T p.(Pro1397=) NC_000002.12:227022072:A:T p.(Pro1397=) NC_000002.12:227022072:A:T Identity +NM_001007097.3:c.1281T>C NP_001007098.1:p.Gly427= NC_000009.12:84745057:T:C p.(Gly427=) NC_000009.12:84745057:T:C p.(Gly427=) NC_000009.12:84745057:T:C Identity +NM_001363711.2:c.1965C>A NP_001350640.1:p.Pro655= NC_000015.10:45106307:G:T p.(Pro655=) NC_000015.10:45106307:G:T p.(Pro655=) NC_000015.10:45106307:G:T Identity +NM_000337.6:c.405T>C NP_000328.2:p.Tyr135= NC_000005.10:156594953:T:C p.(Tyr135=) NC_000005.10:156594953:T:C p.(Tyr135=) NC_000005.10:156594953:T:C Identity +NM_001002019.3:c.388C>T NP_001002019.1:p.Leu130= NC_000012.12:131939202:C:T p.(Leu130=) NC_000012.12:131939202:C:T p.(Leu130=) NC_000012.12:131939202:C:T Identity +NM_001330437.2:c.42G>A NP_001317366.1:p.Val14= NC_000012.12:112446302:G:A p.(Val14=) NC_000012.12:112446302:G:A p.(Val14=) NC_000012.12:112446302:G:A Identity +NM_017791.3:c.618C>T NP_060261.2:p.Phe206= NC_000014.9:75579589:C:T p.(Phe206=) NC_000014.9:75579589:C:T p.(Phe206=) NC_000014.9:75579589:C:T Identity +NM_014141.6:c.2451G>T NP_054860.1:p.Gly817= NC_000007.14:148118184:G:T p.(Gly817=) NC_000007.14:148118184:G:T p.(Gly817=) NC_000007.14:148118184:G:T Identity +NM_001018037.2:c.4233C>T NP_001018047.1:p.Ser1411= NC_000009.12:77314601:C:T p.(Ser1411=) NC_000009.12:77314601:C:T p.(Ser1411=) NC_000009.12:77314601:C:T Identity +NM_001098268.2:c.1384T>C NP_001091738.1:p.Leu462= NC_000013.11:108209884:A:G p.(Leu462=) NC_000013.11:108209884:A:G p.(Leu462=) NC_000013.11:108209884:A:G Identity +NM_001171933.1:c.51T>G NP_001165404.1:p.Thr17= NC_000010.11:71797161:T:G p.(Thr17=) NC_000010.11:71797161:T:G p.(Thr17=) NC_000010.11:71797161:T:G Identity +NM_001130455.2:c.6072C>A NP_001123927.1:p.Thr2024= NC_000002.12:71682541:C:A p.(Thr2024=) NC_000002.12:71682541:C:A p.(Thr2024=) NC_000002.12:71682541:C:A Identity +NM_001288653.2:c.3720A>G NP_001275582.1:p.Glu1240= NC_000017.11:59682735:A:G p.(Glu1240=) NC_000017.11:59682735:A:G p.(Glu1240=) NC_000017.11:59682735:A:G Identity +NM_003373.4:c.237T>A NP_003364.1:p.Ile79= NC_000010.11:74043150:T:A p.(Ile79=) NC_000010.11:74043150:T:A p.(Ile79=) NC_000010.11:74043150:T:A Identity +NM_014639.4:c.2388A>G NP_055454.1:p.Thr796= NC_000005.10:95516963:T:C p.(Thr796=) NC_000005.10:95516963:T:C p.(Thr796=) NC_000005.10:95516963:T:C Identity +NM_001144996.2:c.81C>T NP_001138468.1:p.Leu27= NC_000012.12:55707601:G:A p.(Leu27=) NC_000012.12:55707601:G:A p.(Leu27=) NC_000012.12:55707601:G:A Identity +NM_032816.5:c.1962C>A NP_116205.3:p.Val654= NC_000019.10:32887754:G:T p.(Val654=) NC_000019.10:32887754:G:T p.(Val654=) NC_000019.10:32887754:G:T Identity +NM_012079.6:c.78G>A NP_036211.2:p.Ala26= NC_000008.11:144326558:C:T p.(Ala26=) NC_000008.11:144326558:C:T p.(Ala26=) NC_000008.11:144326558:C:T Identity +NM_020376.4:c.250C>T NP_065109.1:p.Leu84= NC_000011.10:821689:C:T p.(Leu84=) NC_000011.10:821689:C:T p.(Leu84=) NC_000011.10:821689:C:T Identity +NM_000824.5:c.1026T>C NP_000815.1:p.Ala342= NC_000004.12:157152838:T:C p.(Ala342=) NC_000004.12:157152838:T:C p.(Ala342=) NC_000004.12:157152838:T:C Identity +NM_001410858.1:c.714C>T NP_001397787.1:p.Arg238= NC_000018.10:45954687:G:A p.(Arg238=) NC_000018.10:45954687:G:A p.(Arg238=) NC_000018.10:45954687:G:A Identity +NM_001376472.1:c.606G>A NP_001363401.1:p.Glu202= NC_000022.11:50074323:C:T p.(Glu202=) NC_000022.11:50074323:C:T p.(Glu202=) NC_000022.11:50074323:C:T Identity +NM_001406836.1:c.972C>G NP_001393765.1:p.Val324= NC_000011.10:2583484:C:G p.(Val324=) NC_000011.10:2583484:C:G p.(Val324=) NC_000011.10:2583484:C:G Identity +NM_178170.3:c.57C>T NP_835464.1:p.His19= NC_000017.11:28733991:C:T p.(His19=) NC_000017.11:28733991:C:T p.(His19=) NC_000017.11:28733991:C:T Identity +NM_000611.6:c.252A>G NP_000602.1:p.Leu84= NC_000011.10:33710260:T:C p.(Leu84=) NC_000011.10:33710260:T:C p.(Leu84=) NC_000011.10:33710260:T:C Identity +NM_001410705.1:c.2565C>A NP_001397634.1:p.Arg855= NC_000023.11:153956694:G:T p.(Arg855=) NC_000023.11:153956694:G:T p.(Arg855=) NC_000023.11:153956694:G:T Identity +NM_005094.4:c.870C>T NP_005085.2:p.His290= NC_000009.12:128350567:C:T p.(His290=) NC_000009.12:128350567:C:T p.(His290=) NC_000009.12:128350567:C:T Identity +NM_000271.5:c.2649G>A NP_000262.2:p.Leu883= NC_000018.10:23539956:C:T p.(Leu883=) NC_000018.10:23539956:C:T p.(Leu883=) NC_000018.10:23539956:C:T Identity +NM_001369369.1:c.1674C>T NP_001356298.1:p.Pro558= NC_000017.11:28537162:C:T p.(Pro558=) NC_000017.11:28537162:C:T p.(Pro558=) NC_000017.11:28537162:C:T Identity +NM_024685.4:c.534T>C NP_078961.3:p.Phe178= NC_000012.12:76347450:A:G p.(Phe178=) NC_000012.12:76347450:A:G p.(Phe178=) NC_000012.12:76347450:A:G Identity +NM_001042529.3:c.1171C>T NP_001035994.1:p.Leu391= NC_000017.11:42564831:C:T p.(Leu391=) NC_000017.11:42564831:C:T p.(Leu391=) NC_000017.11:42564831:C:T Identity +NM_001256182.2:c.792C>T NP_001243111.1:p.Asn264= NC_000016.10:89286138:G:A p.(Asn264=) NC_000016.10:89286138:G:A p.(Asn264=) NC_000016.10:89286138:G:A Identity +NM_001004426.3:c.465C>A NP_001004426.1:p.Pro155= NC_000022.11:38143248:G:T p.(Pro155=) NC_000022.11:38143248:G:T p.(Pro155=) NC_000022.11:38143248:G:T Identity +NM_002437.5:c.423G>T NP_002428.1:p.Val141= NC_000002.12:27311936:C:A p.(Val141=) NC_000002.12:27311936:C:A p.(Val141=) NC_000002.12:27311936:C:A Identity +NM_001127396.3:c.846T>C NP_001120868.1:p.Asp282= NC_000019.10:7642488:T:C p.(Asp282=) NC_000019.10:7642488:T:C p.(Asp282=) NC_000019.10:7642488:T:C Identity +NM_004646.4:c.3450C>A NP_004637.1:p.Pro1150= NC_000019.10:35831083:G:T p.(Pro1150=) NC_000019.10:35831083:G:T p.(Pro1150=) NC_000019.10:35831083:G:T Identity +NM_001042529.3:c.573C>T NP_001035994.1:p.Tyr191= NC_000017.11:42563194:C:T p.(Tyr191=) NC_000017.11:42563194:C:T p.(Tyr191=) NC_000017.11:42563194:C:T Identity +NM_133259.4:c.3087A>C NP_573566.2:p.Ser1029= NC_000002.12:43918085:T:G p.(Ser1029=) NC_000002.12:43918085:T:G p.(Ser1029=) NC_000002.12:43918085:T:G Identity +NM_001297575.2:c.240G>A NP_001284504.1:p.Val80= NC_000001.11:179575624:C:T p.(Val80=) NC_000001.11:179575624:C:T p.(Val80=) NC_000001.11:179575624:C:T Identity +NM_000335.5:c.1917G>T NP_000326.2:p.Gly639= NC_000003.12:38599023:C:A p.(Gly639=) NC_000003.12:38599023:C:A p.(Gly639=) NC_000003.12:38599023:C:A Identity +NM_001079802.2:c.660G>A NP_001073270.1:p.Gln220= NC_000009.12:105607830:G:A p.(Gln220=) NC_000009.12:105607830:G:A p.(Gln220=) NC_000009.12:105607830:G:A Identity +NM_001199917.2:c.1125T>C NP_001186846.1:p.Tyr375= NC_000006.12:83176048:A:G p.(Tyr375=) NC_000006.12:83176048:A:G p.(Tyr375=) NC_000006.12:83176048:A:G Identity +NM_002496.4:c.426C>G NP_002487.1:p.Arg142= NC_000011.10:68036305:C:G p.(Arg142=) NC_000011.10:68036305:C:G p.(Arg142=) NC_000011.10:68036305:C:G Identity +NM_001015877.2:c.324A>G NP_001015877.1:p.Ala108= NC_000023.11:134393583:A:G p.(Ala108=) NC_000023.11:134393583:A:G p.(Ala108=) NC_000023.11:134393583:A:G Identity +NM_001197104.2:c.6876G>A NP_001184033.1:p.Lys2292= NC_000011.10:118502767:G:A p.(Lys2292=) NC_000011.10:118502767:G:A p.(Lys2292=) NC_000011.10:118502767:G:A Identity +NM_015657.4:c.1581G>A NP_056472.2:p.Lys527= NC_000002.12:215007783:C:T p.(Lys527=) NC_000002.12:215007783:C:T p.(Lys527=) NC_000002.12:215007783:C:T Identity +NM_001306079.2:c.3414G>A NP_001293008.1:p.Leu1138= NC_000002.12:27234210:G:A p.(Leu1138=) NC_000002.12:27234210:G:A p.(Leu1138=) NC_000002.12:27234210:G:A Identity +NM_002143.3:c.159C>T NP_002134.2:p.Ala53= NC_000001.11:32889056:C:T p.(Ala53=) NC_000001.11:32889056:C:T p.(Ala53=) NC_000001.11:32889056:C:T Identity +NM_000246.4:c.2271T>C NP_000237.2:p.Phe757= NC_000016.10:10907762:T:C p.(Phe757=) NC_000016.10:10907762:T:C p.(Phe757=) NC_000016.10:10907762:T:C Identity +NM_000350.3:c.1536G>T NP_000341.2:p.Leu512= NC_000001.11:94077707:C:A p.(Leu512=) NC_000001.11:94077707:C:A p.(Leu512=) NC_000001.11:94077707:C:A Identity +NM_173076.3:c.9C>T NP_775099.2:p.Ser3= NC_000002.12:215138199:G:A p.(Ser3=) NC_000002.12:215138199:G:A p.(Ser3=) NC_000002.12:215138199:G:A Identity +NM_001008707.2:c.2178C>T NP_001008707.1:p.Val726= NC_000014.9:99937841:C:T p.(Val726=) NC_000014.9:99937841:C:T p.(Val726=) NC_000014.9:99937841:C:T Identity +NM_001330540.2:c.567C>A NP_001317469.1:p.Pro189= NC_000001.11:45509103:C:A p.(Pro189=) NC_000001.11:45509103:C:A p.(Pro189=) NC_000001.11:45509103:C:A Identity +NM_001130067.2:c.1266C>T NP_001123539.1:p.Ile422= NC_000004.12:153295872:C:T p.(Ile422=) NC_000004.12:153295872:C:T p.(Ile422=) NC_000004.12:153295872:C:T Identity +NM_003482.4:c.4929G>A NP_003473.3:p.Gly1643= NC_000012.12:49044777:C:T p.(Gly1643=) NC_000012.12:49044777:C:T p.(Gly1643=) NC_000012.12:49044777:C:T Identity +NM_000135.4:c.3123C>T NP_000126.2:p.Thr1041= NC_000016.10:89749845:G:A p.(Thr1041=) NC_000016.10:89749845:G:A p.(Thr1041=) NC_000016.10:89749845:G:A Identity +NM_001410858.1:c.5052G>C NP_001397787.1:p.Thr1684= NC_000018.10:45887807:C:G p.(Thr1684=) NC_000018.10:45887807:C:G p.(Thr1684=) NC_000018.10:45887807:C:G Identity +NM_004629.2:c.426G>C NP_004620.1:p.Leu142= NC_000009.12:35078224:C:G p.(Leu142=) NC_000009.12:35078224:C:G p.(Leu142=) NC_000009.12:35078224:C:G Identity +NM_001276479.2:c.1897_1902del NP_001263408.1:p.Thr633_Leu634del NC_000019.10:5694820:CAGCGTCAGC:CAGC p.(Thr633_Leu634del) NC_000019.10:5694820:CAGCGTCAGC:CAGC p.(Thr633_Leu634del) NC_000019.10:5694820:CAGCGT: Identity +NM_001261406.2:c.1041G>A NP_001248335.1:p.Leu347= NC_000009.12:13219603:C:T p.(Leu347=) NC_000009.12:13219603:C:T p.(Leu347=) NC_000009.12:13219603:C:T Identity +NM_005732.4:c.1911T>C NP_005723.2:p.Asp637= NC_000005.10:132594985:T:C p.(Asp637=) NC_000005.10:132594985:T:C p.(Asp637=) NC_000005.10:132594985:T:C Identity +NM_001354901.2:c.6414T>C NP_001341830.1:p.Ser2138= NC_000005.10:112842184:T:C p.(Ser2138=) NC_000005.10:112842184:T:C p.(Ser2138=) NC_000005.10:112842184:T:C Identity +NM_000492.4:c.1503C>T NP_000483.3:p.Thr501= NC_000007.14:117559573:C:T p.(Thr501=) NC_000007.14:117559573:C:T p.(Thr501=) NC_000007.14:117559573:C:T Identity +NM_138694.4:c.10206A>T NP_619639.3:p.Gly3402= NC_000006.12:51659919:T:A p.(Gly3402=) NC_000006.12:51659919:T:A p.(Gly3402=) NC_000006.12:51659919:T:A Identity +NM_001098268.2:c.1392T>A NP_001091738.1:p.Ile464= NC_000013.11:108209876:A:T p.(Ile464=) NC_000013.11:108209876:A:T p.(Ile464=) NC_000013.11:108209876:A:T Identity +NM_001182.5:c.1272A>C NP_001173.2:p.Ala424= NC_000005.10:126552065:T:G p.(Ala424=) NC_000005.10:126552065:T:G p.(Ala424=) NC_000005.10:126552065:T:G Identity +NM_001145265.2:c.216G>T NP_001138737.1:p.Thr72= NC_000011.10:45806055:G:T p.(Thr72=) NC_000011.10:45806055:G:T p.(Thr72=) NC_000011.10:45806055:G:T Identity +NM_001098209.2:c.1101A>T NP_001091679.1:p.Gly367= NC_000003.12:41233359:A:T p.(Gly367=) NC_000003.12:41233359:A:T p.(Gly367=) NC_000003.12:41233359:A:T Identity +NM_000352.6:c.1072T>C NP_000343.2:p.Leu358= NC_000011.10:17453222:A:G p.(Leu358=) NC_000011.10:17453222:A:G p.(Leu358=) NC_000011.10:17453222:A:G Identity +NM_001173425.2:c.654G>A NP_001166896.1:p.Val218= NC_000009.12:114478735:C:T p.(Val218=) NC_000009.12:114478735:C:T p.(Val218=) NC_000009.12:114478735:C:T Identity +NM_001410858.1:c.5625C>A NP_001397787.1:p.Ala1875= NC_000018.10:45880116:G:T p.(Ala1875=) NC_000018.10:45880116:G:T p.(Ala1875=) NC_000018.10:45880116:G:T Identity +NM_015909.4:c.4060T>C NP_056993.2:p.Leu1354= NC_000002.12:15353581:A:G p.(Leu1354=) NC_000002.12:15353581:A:G p.(Leu1354=) NC_000002.12:15353581:A:G Identity +NM_003482.4:c.7464G>C NP_003473.3:p.Ser2488= NC_000012.12:49040305:C:G p.(Ser2488=) NC_000012.12:49040305:C:G p.(Ser2488=) NC_000012.12:49040305:C:G Identity +NM_001378454.1:c.3129A>G NP_001365383.1:p.Pro1043= NC_000002.12:73449655:A:G p.(Pro1043=) NC_000002.12:73449655:A:G p.(Pro1043=) NC_000002.12:73449655:A:G Identity +NM_018129.4:c.228G>A NP_060599.1:p.Gly76= NC_000017.11:47943394:G:A p.(Gly76=) NC_000017.11:47943394:G:A p.(Gly76=) NC_000017.11:47943394:G:A Identity +NM_000154.2:c.162T>G NP_000145.1:p.Pro54= NC_000017.11:75764974:A:C p.(Pro54=) NC_000017.11:75764974:A:C p.(Pro54=) NC_000017.11:75764974:A:C Identity +NM_001165966.2:c.2529CGC[3] NP_001159438.1:p.Ala845_His846insAla NC_000017.11:6455620:GCGGCG:GCGGCGGCG p.(Ala845dup) NC_000017.11:6455625:G:GCGGCGGCG ERR:Parse ERR:Parse Analogous +NM_001256789.3:c.3048C>T NP_001243718.1:p.Tyr1016= NC_000023.11:49217795:G:A p.(Tyr1016=) NC_000023.11:49217795:G:A p.(Tyr1016=) NC_000023.11:49217795:G:A Identity +NM_000918.4:c.300C>T NP_000909.2:p.Pro100= NC_000017.11:81859232:G:A p.(Pro100=) NC_000017.11:81859232:G:A p.(Pro100=) NC_000017.11:81859232:G:A Identity +NM_001290184.2:c.1671A>G NP_001277113.1:p.Thr557= NC_000001.11:160356690:A:G p.(Thr557=) NC_000001.11:160356690:A:G p.(Thr557=) NC_000001.11:160356690:A:G Identity +NM_001142763.2:c.597T>C NP_001136235.1:p.Asn199= NC_000010.11:54346376:A:G p.(Asn199=) NC_000010.11:54346376:A:G p.(Asn199=) NC_000010.11:54346376:A:G Identity +NM_001171930.2:c.1992G>A NP_001165401.1:p.Glu664= NC_000010.11:71687651:G:A p.(Glu664=) NC_000010.11:71687651:G:A p.(Glu664=) NC_000010.11:71687651:G:A Identity +NM_001281737.2:c.1458G>A NP_001268666.1:p.Gln486= NC_000004.12:158706758:G:A p.(Gln486=) NC_000004.12:158706758:G:A p.(Gln486=) NC_000004.12:158706758:G:A Identity +NM_001363711.2:c.2517G>C NP_001350640.1:p.Leu839= NC_000015.10:45104182:C:G p.(Leu839=) NC_000015.10:45104182:C:G p.(Leu839=) NC_000015.10:45104182:C:G Identity +NM_000557.5:c.306C>T NP_000548.2:p.Gly102= NC_000020.11:35437622:G:A p.(Gly102=) NC_000020.11:35437622:G:A p.(Gly102=) NC_000020.11:35437622:G:A Identity +NM_001122670.2:c.1536C>T NP_001116142.1:p.Asp512= NC_000023.11:72636309:G:A p.(Asp512=) NC_000023.11:72636309:G:A p.(Asp512=) NC_000023.11:72636309:G:A Identity +NM_001130455.2:c.3264T>C NP_001123927.1:p.Asp1088= NC_000002.12:71574283:T:C p.(Asp1088=) NC_000002.12:71574283:T:C p.(Asp1088=) NC_000002.12:71574283:T:C Identity +NM_000833.5:c.2862C>T NP_000824.1:p.Ser954= NC_000016.10:9764681:G:A p.(Ser954=) NC_000016.10:9764681:G:A p.(Ser954=) NC_000016.10:9764681:G:A Identity +NM_001127218.3:c.1281T>C NP_001120690.1:p.Thr427= NC_000007.14:44114913:A:G p.(Thr427=) NC_000007.14:44114913:A:G p.(Thr427=) NC_000007.14:44114913:A:G Identity +NM_001280541.2:c.324C>T NP_001267470.1:p.Leu108= NC_000003.12:129460904:C:T p.(Leu108=) NC_000003.12:129460904:C:T p.(Leu108=) NC_000003.12:129460904:C:T Identity +NM_000550.3:c.1155T>C NP_000541.1:p.Asn385= NC_000009.12:12704598:T:C p.(Asn385=) NC_000009.12:12704598:T:C p.(Asn385=) NC_000009.12:12704598:T:C Identity +NM_001362949.2:c.2097C>T NP_001349878.1:p.Pro699= NC_000022.11:33274600:G:A p.(Pro699=) NC_000022.11:33274600:G:A p.(Pro699=) NC_000022.11:33274600:G:A Identity +NM_001315529.2:c.7950C>G NP_001302458.1:p.Thr2650= NC_000021.9:46431767:C:G p.(Thr2650=) NC_000021.9:46431767:C:G p.(Thr2650=) NC_000021.9:46431767:C:G Identity +NM_024640.4:c.27G>T NP_078916.3:p.Gly9= NC_000001.11:37808153:C:A p.(Gly9=) NC_000001.11:37808153:C:A p.(Gly9=) NC_000001.11:37808153:C:A Identity +NM_001293273.2:c.1497C>T NP_001280202.1:p.Asn499= NC_000003.12:183022437:G:A p.(Asn499=) NC_000003.12:183022437:G:A p.(Asn499=) NC_000003.12:183022437:G:A Identity +NM_001315529.2:c.3297G>A NP_001302458.1:p.Glu1099= NC_000021.9:46389241:G:A p.(Glu1099=) NC_000021.9:46389241:G:A p.(Glu1099=) NC_000021.9:46389241:G:A Identity +NM_001113491.2:c.645T>G NP_001106963.1:p.Pro215= NC_000017.11:77402626:T:G p.(Pro215=) NC_000017.11:77402626:T:G p.(Pro215=) NC_000017.11:77402626:T:G Identity +NM_014639.4:c.1275T>C NP_055454.1:p.Leu425= NC_000005.10:95525447:A:G p.(Leu425=) NC_000005.10:95525447:A:G p.(Leu425=) NC_000005.10:95525447:A:G Identity +NM_017934.7:c.3105C>T NP_060404.4:p.Gly1035= NC_000006.12:78970065:G:A p.(Gly1035=) NC_000006.12:78970065:G:A p.(Gly1035=) NC_000006.12:78970065:G:A Identity +NM_000136.3:c.804T>C NP_000127.2:p.Cys268= NC_000009.12:95135384:A:G p.(Cys268=) NC_000009.12:95135384:A:G p.(Cys268=) NC_000009.12:95135384:A:G Identity +NM_014141.6:c.3705C>T NP_054860.1:p.His1235= NC_000007.14:148383877:C:T p.(His1235=) NC_000007.14:148383877:C:T p.(His1235=) NC_000007.14:148383877:C:T Identity +NM_000260.4:c.2148C>T NP_000251.3:p.His716= NC_000011.10:77175424:C:T p.(His716=) NC_000011.10:77175424:C:T p.(His716=) NC_000011.10:77175424:C:T Identity +NM_002838.5:c.1899C>T NP_002829.3:p.Ile633= NC_000001.11:198731650:C:T p.(Ile633=) NC_000001.11:198731650:C:T p.(Ile633=) NC_000001.11:198731650:C:T Identity +NM_001252020.2:c.1179C>T NP_001238949.1:p.Asp393= NC_000015.10:31061475:G:A p.(Asp393=) NC_000015.10:31061475:G:A p.(Asp393=) NC_000015.10:31061475:G:A Identity +NM_001131015.2:c.784T>C NP_001124487.1:p.Leu262= NC_000009.12:128180421:A:G p.(Leu262=) NC_000009.12:128180421:A:G p.(Leu262=) NC_000009.12:128180421:A:G Identity +NM_001127214.4:c.363G>A NP_001120686.1:p.Val121= NC_000016.10:89101043:G:A p.(Val121=) NC_000016.10:89101043:G:A p.(Val121=) NC_000016.10:89101043:G:A Identity +NM_016239.4:c.2724G>A NP_057323.3:p.Glu908= NC_000017.11:18121523:G:A p.(Glu908=) NC_000017.11:18121523:G:A p.(Glu908=) NC_000017.11:18121523:G:A Identity +NM_001425160.1:c.75C>T NP_001412089.1:p.Gly25= NC_000011.10:126269280:C:T p.(Gly25=) NC_000011.10:126269280:C:T p.(Gly25=) NC_000011.10:126269280:C:T Identity +NM_001157.3:c.1404C>T NP_001148.1:p.Asp468= NC_000010.11:80157694:G:A p.(Asp468=) NC_000010.11:80157694:G:A p.(Asp468=) NC_000010.11:80157694:G:A Identity +NM_001089.3:c.2367C>T NP_001080.2:p.Ser789= NC_000016.10:2295636:G:A p.(Ser789=) NC_000016.10:2295636:G:A p.(Ser789=) NC_000016.10:2295636:G:A Identity +NM_001008707.2:c.1548G>A NP_001008707.1:p.Thr516= NC_000014.9:99911572:G:A p.(Thr516=) NC_000014.9:99911572:G:A p.(Thr516=) NC_000014.9:99911572:G:A Identity +NM_004273.5:c.1251G>A NP_004264.2:p.Thr417= NC_000010.11:72008281:G:A p.(Thr417=) NC_000010.11:72008281:G:A p.(Thr417=) NC_000010.11:72008281:G:A Identity +NM_000319.5:c.1689T>G NP_000310.2:p.Ala563= NC_000012.12:7209834:T:G p.(Ala563=) NC_000012.12:7209834:T:G p.(Ala563=) NC_000012.12:7209834:T:G Identity +NM_001035.3:c.5241C>T NP_001026.2:p.Gly1747= NC_000001.11:237614368:C:T p.(Gly1747=) NC_000001.11:237614368:C:T p.(Gly1747=) NC_000001.11:237614368:C:T Identity +NM_001142800.2:c.4767C>T NP_001136272.1:p.Asn1589= NC_000006.12:64591099:G:A p.(Asn1589=) NC_000006.12:64591099:G:A p.(Asn1589=) NC_000006.12:64591099:G:A Identity +NM_212550.5:c.135C>T NP_997715.1:p.Gly45= NC_000019.10:45179430:C:T p.(Gly45=) NC_000019.10:45179430:C:T p.(Gly45=) NC_000019.10:45179430:C:T Identity +NM_001197104.2:c.7725A>G NP_001184033.1:p.Gln2575= NC_000011.10:118503616:A:G p.(Gln2575=) NC_000011.10:118503616:A:G p.(Gln2575=) NC_000011.10:118503616:A:G Identity +NM_001166133.2:c.1668C>T NP_001159605.1:p.Gly556= NC_000004.12:78308198:C:T p.(Gly556=) NC_000004.12:78308198:C:T p.(Gly556=) NC_000004.12:78308198:C:T Identity +NM_006947.4:c.765A>G NP_008878.3:p.Leu255= NC_000004.12:56478500:A:G p.(Leu255=) NC_000004.12:56478500:A:G p.(Leu255=) NC_000004.12:56478500:A:G Identity +NM_001276468.2:c.936G>T NP_001263397.1:p.Leu312= NC_000012.12:57628163:C:A p.(Leu312=) NC_000012.12:57628163:C:A p.(Leu312=) NC_000012.12:57628163:C:A Identity +NM_001306193.2:c.1686A>G NP_001293122.1:p.Ala562= NC_000023.11:132078285:T:C p.(Ala562=) NC_000023.11:132078285:T:C p.(Ala562=) NC_000023.11:132078285:T:C Identity +NM_001039958.2:c.267G>C NP_001035047.1:p.Arg89= NC_000015.10:89776623:G:C p.(Arg89=) NC_000015.10:89776623:G:C p.(Arg89=) NC_000015.10:89776623:G:C Identity +NM_001346813.1:c.2091G>C NP_001333742.1:p.Gly697= NC_000006.12:157084753:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001276479.2:c.1512C>T NP_001263408.1:p.Ala504= NC_000019.10:5696738:G:A p.(Ala504=) NC_000019.10:5696738:G:A p.(Ala504=) NC_000019.10:5696738:G:A Identity +NM_001375291.1:c.2988G>A NP_001362220.1:p.Lys996= NC_000009.12:95972738:G:A p.(Lys996=) NC_000009.12:95972738:G:A p.(Lys996=) NC_000009.12:95972738:G:A Identity +NM_001178074.2:c.1884G>T NP_001171545.1:p.Gly628= NC_000012.12:66394296:C:A p.(Gly628=) NC_000012.12:66394296:C:A p.(Gly628=) NC_000012.12:66394296:C:A Identity +NM_001037131.3:c.1248C>T NP_001032208.1:p.Ala416= NC_000002.12:235908829:C:T p.(Ala416=) NC_000002.12:235908829:C:T p.(Ala416=) NC_000002.12:235908829:C:T Identity +NM_000196.4:c.837C>T NP_000187.3:p.Arg279= NC_000016.10:67436621:C:T p.(Arg279=) NC_000016.10:67436621:C:T p.(Arg279=) NC_000016.10:67436621:C:T Identity +NM_001135597.2:c.1428A>G NP_001129069.1:p.Val476= NC_000002.12:55339553:T:C p.(Val476=) NC_000002.12:55339553:T:C p.(Val476=) NC_000002.12:55339553:T:C Identity +NM_000392.5:c.1293C>T NP_000383.2:p.Leu431= NC_000010.11:99804101:C:T p.(Leu431=) NC_000010.11:99804101:C:T p.(Leu431=) NC_000010.11:99804101:C:T Identity +NM_032119.4:c.14256C>T NP_115495.3:p.Phe4752= NC_000005.10:90791084:C:T p.(Phe4752=) NC_000005.10:90791084:C:T p.(Phe4752=) NC_000005.10:90791084:C:T Identity +NM_003235.5:c.6630G>T NP_003226.4:p.Leu2210= NC_000008.11:133017844:G:T p.(Leu2210=) NC_000008.11:133017844:G:T p.(Leu2210=) NC_000008.11:133017844:G:T Identity +NM_000339.3:c.2244G>T NP_000330.3:p.Ser748= NC_000016.10:56887989:G:T p.(Ser748=) NC_000016.10:56887989:G:T p.(Ser748=) NC_000016.10:56887989:G:T Identity +NM_001113378.2:c.3264T>A NP_001106849.1:p.Val1088= NC_000015.10:89305612:T:A p.(Val1088=) NC_000015.10:89305612:T:A p.(Val1088=) NC_000015.10:89305612:T:A Identity +NM_006019.4:c.441G>A NP_006010.2:p.Gly147= NC_000011.10:68042968:G:A p.(Gly147=) NC_000011.10:68042968:G:A p.(Gly147=) NC_000011.10:68042968:G:A Identity +NM_000054.7:c.591G>A NP_000045.1:p.Ala197= NC_000023.11:153906096:G:A p.(Ala197=) NC_000023.11:153906096:G:A p.(Ala197=) NC_000023.11:153906096:G:A Identity +NM_001410846.1:c.3231G>T NP_001397775.1:p.Gly1077= NC_000020.11:48998204:G:T p.(Gly1077=) NC_000020.11:48998204:G:T p.(Gly1077=) NC_000020.11:48998204:G:T Identity +NM_000109.4:c.7299T>A NP_000100.3:p.Thr2433= NC_000023.11:31774178:A:T p.(Thr2433=) NC_000023.11:31774178:A:T p.(Thr2433=) NC_000023.11:31774178:A:T Identity +NM_001164507.2:c.7650G>A NP_001157979.2:p.Lys2550= NC_000002.12:151644123:C:T p.(Lys2550=) NC_000002.12:151644123:C:T p.(Lys2550=) NC_000002.12:151644123:C:T Identity +NM_001759.4:c.594A>G NP_001750.1:p.Pro198= NC_000012.12:4288863:A:G p.(Pro198=) NC_000012.12:4288863:A:G p.(Pro198=) NC_000012.12:4288863:A:G Identity +NM_006734.4:c.6930T>G NP_006725.3:p.Thr2310= NC_000006.12:142753517:A:C p.(Thr2310=) NC_000006.12:142753517:A:C p.(Thr2310=) NC_000006.12:142753517:A:C Identity +NM_024747.6:c.744A>G NP_079023.2:p.Thr248= NC_000010.11:102066217:A:G p.(Thr248=) NC_000010.11:102066217:A:G p.(Thr248=) NC_000010.11:102066217:A:G Identity +NM_021939.4:c.21C>G NP_068758.3:p.Pro7= NC_000017.11:41813054:C:G p.(Pro7=) NC_000017.11:41813054:C:G p.(Pro7=) NC_000017.11:41813054:C:G Identity +NM_001351273.1:c.2928G>A NP_001338202.1:p.Glu976= NC_000019.10:1466231:G:A p.(Glu976=) NC_000019.10:1466231:G:A p.(Glu976=) NC_000019.10:1466231:G:A Identity +NM_001220765.3:c.1038G>A NP_001207694.1:p.Ala346= NC_000007.14:50400230:G:A p.(Ala346=) NC_000007.14:50400230:G:A p.(Ala346=) NC_000007.14:50400230:G:A Identity +NM_000264.5:c.132G>C NP_000255.2:p.Ala44= NC_000009.12:95508229:C:G p.(Ala44=) NC_000009.12:95508229:C:G p.(Ala44=) NC_000009.12:95508229:C:G Identity +NM_001425160.1:c.1245C>T NP_001412089.1:p.Ser415= NC_000011.10:126277442:C:T p.(Ser415=) NC_000011.10:126277442:C:T p.(Ser415=) NC_000011.10:126277442:C:T Identity +NM_001394062.1:c.3498C>G NP_001380991.1:p.Leu1166= NC_000001.11:39316438:C:G p.(Leu1166=) NC_000001.11:39316438:C:G p.(Leu1166=) NC_000001.11:39316438:C:G Identity +NM_001282531.3:c.1134T>C NP_001269460.1:p.Tyr378= NC_000020.11:50893579:A:G p.(Tyr378=) NC_000020.11:50893579:A:G p.(Tyr378=) NC_000020.11:50893579:A:G Identity +NM_001034116.2:c.129G>A NP_001029288.1:p.Lys43= NC_000002.12:27369495:C:T p.(Lys43=) NC_000002.12:27369495:C:T p.(Lys43=) NC_000002.12:27369495:C:T Identity +NM_000720.4:c.3639C>T NP_000711.1:p.Pro1213= NC_000003.12:53751810:C:T p.(Pro1213=) NC_000003.12:53751810:C:T p.(Pro1213=) NC_000003.12:53751810:C:T Identity +NM_001146289.2:c.1674C>T NP_001139761.1:p.Pro558= NC_000001.11:42750231:G:A p.(Pro558=) NC_000001.11:42750231:G:A p.(Pro558=) NC_000001.11:42750231:G:A Identity +NM_001164317.2:c.2637G>T NP_001157789.1:p.Pro879= NC_000003.12:58112209:G:T p.(Pro879=) NC_000003.12:58112209:G:T p.(Pro879=) NC_000003.12:58112209:G:T Identity +NM_001367624.2:c.11382G>A NP_001354553.1:p.Arg3794= NC_000016.10:88438851:G:A p.(Arg3794=) NC_000016.10:88438851:G:A p.(Arg3794=) NC_000016.10:88438851:G:A Identity +NM_000426.4:c.5130T>C NP_000417.3:p.Phe1710= NC_000006.12:129391548:T:C p.(Phe1710=) NC_000006.12:129391548:T:C p.(Phe1710=) NC_000006.12:129391548:T:C Identity +NM_000426.4:c.4170C>G NP_000417.3:p.Ser1390= NC_000006.12:129320648:C:G p.(Ser1390=) NC_000006.12:129320648:C:G p.(Ser1390=) NC_000006.12:129320648:C:G Identity +NM_014639.4:c.2166T>C NP_055454.1:p.Asp722= NC_000005.10:95517270:A:G p.(Asp722=) NC_000005.10:95517270:A:G p.(Asp722=) NC_000005.10:95517270:A:G Identity +NM_001346754.2:c.924T>C NP_001333683.1:p.Ser308= NC_000017.11:36538024:T:C p.(Ser308=) NC_000017.11:36538024:T:C p.(Ser308=) NC_000017.11:36538024:T:C Identity +NM_000195.5:c.2034C>T NP_000186.2:p.Asp678= NC_000010.11:98417632:G:A p.(Asp678=) NC_000010.11:98417632:G:A p.(Asp678=) NC_000010.11:98417632:G:A Identity +NM_000720.4:c.4944G>A NP_000711.1:p.Val1648= NC_000003.12:53786912:G:A p.(Val1648=) NC_000003.12:53786912:G:A p.(Val1648=) NC_000003.12:53786912:G:A Identity +NM_000019.4:c.1053A>G NP_000010.1:p.Glu351= NC_000011.10:108146248:A:G p.(Glu351=) NC_000011.10:108146248:A:G p.(Glu351=) NC_000011.10:108146248:A:G Identity +NM_006059.4:c.1413C>T NP_006050.3:p.Pro471= NC_000009.12:131045553:C:T p.(Pro471=) NC_000009.12:131045553:C:T p.(Pro471=) NC_000009.12:131045553:C:T Identity +NM_016562.4:c.84A>G NP_057646.1:p.Arg28= NC_000023.11:12885591:A:G p.(Arg28=) NC_000023.11:12885591:A:G p.(Arg28=) NC_000023.11:12885591:A:G Identity +NM_006766.5:c.5910T>C NP_006757.2:p.Pro1970= NC_000008.11:41932309:A:G p.(Pro1970=) NC_000008.11:41932309:A:G p.(Pro1970=) NC_000008.11:41932309:A:G Identity +NM_001267578.2:c.1680C>T NP_001254507.1:p.Gly560= NC_000001.11:179918163:C:T p.(Gly560=) NC_000001.11:179918163:C:T p.(Gly560=) NC_000001.11:179918163:C:T Identity +NM_001194998.2:c.2079A>G NP_001181927.1:p.Leu693= NC_000015.10:48767402:T:C p.(Leu693=) NC_000015.10:48767402:T:C p.(Leu693=) NC_000015.10:48767402:T:C Identity +NM_001350234.2:c.2874C>T NP_001337163.1:p.Tyr958= NC_000001.11:9724815:C:T p.(Tyr958=) NC_000001.11:9724815:C:T p.(Tyr958=) NC_000001.11:9724815:C:T Identity +NM_001142763.2:c.3795G>A NP_001136235.1:p.Val1265= NC_000010.11:53857200:C:T p.(Val1265=) NC_000010.11:53857200:C:T p.(Val1265=) NC_000010.11:53857200:C:T Identity +NM_003482.4:c.11994C>T NP_003473.3:p.Gly3998= NC_000012.12:49032710:G:A p.(Gly3998=) NC_000012.12:49032710:G:A p.(Gly3998=) NC_000012.12:49032710:G:A Identity +NM_001410908.1:c.3312A>G NP_001397837.1:p.Ser1104= NC_000007.14:105107768:A:G p.(Ser1104=) NC_000007.14:105107768:A:G p.(Ser1104=) NC_000007.14:105107768:A:G Identity +NM_005914.4:c.48A>G NP_005905.2:p.Gly16= NC_000008.11:47961191:A:G p.(Gly16=) NC_000008.11:47961191:A:G p.(Gly16=) NC_000008.11:47961191:A:G Identity +NM_000104.4:c.177G>A NP_000095.2:p.Leu59= NC_000002.12:38075211:C:T p.(Leu59=) NC_000002.12:38075211:C:T p.(Leu59=) NC_000002.12:38075211:C:T Identity +NM_001346897.2:c.2859C>T NP_001333826.1:p.Tyr953= NC_000007.14:55201234:C:T p.(Tyr953=) NC_000007.14:55201234:C:T p.(Tyr953=) NC_000007.14:55201234:C:T Identity +NM_000081.4:c.5736G>A NP_000072.2:p.Lys1912= NC_000001.11:235773889:C:T p.(Lys1912=) NC_000001.11:235773889:C:T p.(Lys1912=) NC_000001.11:235773889:C:T Identity +NM_001321080.2:c.1221G>A NP_001308009.1:p.Arg407= NC_000006.12:104785040:C:T p.(Arg407=) NC_000006.12:104785040:C:T p.(Arg407=) NC_000006.12:104785040:C:T Identity +NM_000359.3:c.882C>T NP_000350.1:p.Asp294= NC_000014.9:24259805:G:A p.(Asp294=) NC_000014.9:24259805:G:A p.(Asp294=) NC_000014.9:24259805:G:A Identity +NM_001009999.3:c.813A>T NP_001009999.1:p.Arg271= NC_000001.11:23055090:A:T p.(Arg271=) NC_000001.11:23055090:A:T p.(Arg271=) NC_000001.11:23055090:A:T Identity +NM_001171.6:c.2406C>T NP_001162.5:p.Leu802= NC_000016.10:16178806:G:A p.(Leu802=) NC_000016.10:16178806:G:A p.(Leu802=) NC_000016.10:16178806:G:A Identity +NM_001142929.2:c.1506T>A NP_001136401.2:p.Ile502= NC_000010.11:49662664:T:A p.(Ile502=) NC_000010.11:49662664:T:A p.(Ile502=) NC_000010.11:49662664:T:A Identity +NM_001173466.2:c.588C>T NP_001166937.1:p.Thr196= NC_000012.12:53314299:G:A p.(Thr196=) NC_000012.12:53314299:G:A p.(Thr196=) NC_000012.12:53314299:G:A Identity +NM_003718.5:c.4233C>T NP_003709.3:p.Tyr1411= NC_000007.14:40094673:C:T p.(Tyr1411=) NC_000007.14:40094673:C:T p.(Tyr1411=) NC_000007.14:40094673:C:T Identity +NM_001257137.3:c.117A>G NP_001244066.1:p.Pro39= NC_000020.11:34408696:A:G p.(Pro39=) NC_000020.11:34408696:A:G p.(Pro39=) NC_000020.11:34408696:A:G Identity +NM_005120.3:c.4701C>T NP_005111.2:p.Ser1567= NC_000023.11:71134439:C:T p.(Ser1567=) NC_000023.11:71134439:C:T p.(Ser1567=) NC_000023.11:71134439:C:T Identity +NM_205850.3:c.651C>T NP_995322.1:p.Asp217= NC_000015.10:48136742:C:T p.(Asp217=) NC_000015.10:48136742:C:T p.(Asp217=) NC_000015.10:48136742:C:T Identity +NM_001012509.4:c.333C>A NP_001012527.2:p.Val111= NC_000005.10:33984250:G:T p.(Val111=) NC_000005.10:33984250:G:T p.(Val111=) NC_000005.10:33984250:G:T Identity +NM_001077653.2:c.750A>G NP_001071121.1:p.Glu250= NC_000007.14:35240941:T:C p.(Glu250=) NC_000007.14:35240941:T:C p.(Glu250=) NC_000007.14:35240941:T:C Identity +NM_000372.5:c.1293A>G NP_000363.1:p.Pro431= NC_000011.10:89284880:A:G p.(Pro431=) NC_000011.10:89284880:A:G p.(Pro431=) NC_000011.10:89284880:A:G Identity +NM_001290185.2:c.1173G>A NP_001277114.1:p.Lys391= NC_000011.10:119073915:G:A p.(Lys391=) NC_000011.10:119073915:G:A p.(Lys391=) NC_000011.10:119073915:G:A Identity +NM_001031847.3:c.759C>T NP_001027017.1:p.Asn253= NC_000011.10:68796867:G:A p.(Asn253=) NC_000011.10:68796867:G:A p.(Asn253=) NC_000011.10:68796867:G:A Identity +NM_001010938.2:c.1812G>A NP_001010938.2:p.Gly604= NC_000003.12:195868557:C:T p.(Gly604=) NC_000003.12:195868557:C:T p.(Gly604=) NC_000003.12:195868557:C:T Identity +NM_032119.4:c.10395T>C NP_115495.3:p.Ile3465= NC_000005.10:90728901:T:C p.(Ile3465=) NC_000005.10:90728901:T:C p.(Ile3465=) NC_000005.10:90728901:T:C Identity +NM_001289135.3:c.334A>C NP_001276064.1:p.Arg112= NC_000004.12:20268819:A:C p.(Arg112=) NC_000004.12:20268819:A:C p.(Arg112=) NC_000004.12:20268819:A:C Identity +NM_001396000.1:c.45G>T NP_001382929.1:p.Arg15= NC_000019.10:41888211:G:T p.(Arg15=) NC_000019.10:41888211:G:T p.(Arg15=) NC_000019.10:41888211:G:T Identity +NM_014244.5:c.2130C>T NP_055059.2:p.Asp710= NC_000005.10:179132855:G:A p.(Asp710=) NC_000005.10:179132855:G:A p.(Asp710=) NC_000005.10:179132855:G:A Identity +NM_002299.4:c.2856C>T NP_002290.2:p.Ala952= NC_000002.12:135809490:G:A p.(Ala952=) NC_000002.12:135809490:G:A p.(Ala952=) NC_000002.12:135809490:G:A Identity +NM_178859.4:c.57_65del NP_849190.2:p.Leu20_Glu22del NC_000015.10:65050057:GGAGCTGCTGGA:GGA p.(Leu20_Glu22del) NC_000015.10:65050057:GGAGCTGCTGGA:GGA p.(Leu20_Glu22del) NC_000015.10:65050060:GCTGCTGGA: Identity +NM_001406506.1:c.1527G>T NP_001393435.1:p.Val509= NC_000018.10:31071773:C:A p.(Val509=) NC_000018.10:31071773:C:A p.(Val509=) NC_000018.10:31071773:C:A Identity +NM_006059.4:c.888C>T NP_006050.3:p.Thr296= NC_000009.12:131036243:C:T p.(Thr296=) NC_000009.12:131036243:C:T p.(Thr296=) NC_000009.12:131036243:C:T Identity +NM_032119.4:c.11760C>A NP_115495.3:p.Gly3920= NC_000005.10:90756980:C:A p.(Gly3920=) NC_000005.10:90756980:C:A p.(Gly3920=) NC_000005.10:90756980:C:A Identity +NM_001844.5:c.2268A>C NP_001835.3:p.Gly756= NC_000012.12:47982534:T:G p.(Gly756=) NC_000012.12:47982534:T:G p.(Gly756=) NC_000012.12:47982534:T:G Identity +NM_032444.4:c.2004C>G NP_115820.2:p.Gly668= NC_000016.10:3595613:G:C p.(Gly668=) NC_000016.10:3595613:G:C p.(Gly668=) NC_000016.10:3595613:G:C Identity +NM_000186.4:c.1581G>A NP_000177.2:p.Lys527= NC_000001.11:196715653:G:A p.(Lys527=) NC_000001.11:196715653:G:A p.(Lys527=) NC_000001.11:196715653:G:A Identity +NM_032444.4:c.4504A>C NP_115820.2:p.Arg1502= NC_000016.10:3589133:T:G p.(Arg1502=) NC_000016.10:3589133:T:G p.(Arg1502=) NC_000016.10:3589133:T:G Identity +NM_004946.3:c.405C>T NP_004937.1:p.Thr135= NC_000005.10:169674379:C:T p.(Thr135=) NC_000005.10:169674379:C:T p.(Thr135=) NC_000005.10:169674379:C:T Identity +NM_001453.3:c.1029G>A NP_001444.2:p.Gly343= NC_000006.12:1611473:G:A p.(Gly343=) NC_000006.12:1611473:G:A p.(Gly343=) NC_000006.12:1611473:G:A Identity +NM_000443.4:c.792G>A NP_000434.1:p.Arg264= NC_000007.14:87450008:C:T p.(Arg264=) NC_000007.14:87450008:C:T p.(Arg264=) NC_000007.14:87450008:C:T Identity +NM_001792.5:c.132C>T NP_001783.2:p.Val44= NC_000018.10:28147712:G:A p.(Val44=) NC_000018.10:28147712:G:A p.(Val44=) NC_000018.10:28147712:G:A Identity +NM_003124.5:c.27G>A NP_003115.1:p.Val9= NC_000002.12:72887458:G:A p.(Val9=) NC_000002.12:72887458:G:A p.(Val9=) NC_000002.12:72887458:G:A Identity +NM_001410772.1:c.123C>T NP_001397701.1:p.Gly41= NC_000003.12:52408605:G:A p.(Gly41=) NC_000003.12:52408605:G:A p.(Gly41=) NC_000003.12:52408605:G:A Identity +NM_198586.3:c.126C>T NP_940988.2:p.Arg42= NC_000006.12:18122480:G:A p.(Arg42=) NC_000006.12:18122480:G:A p.(Arg42=) NC_000006.12:18122480:G:A Identity +NM_001377456.1:c.399C>T NP_001364385.1:p.Ser133= NC_000016.10:56511230:G:A p.(Ser133=) NC_000016.10:56511230:G:A p.(Ser133=) NC_000016.10:56511230:G:A Identity +NM_001282933.2:c.1062A>G NP_001269862.1:p.Ala354= NC_000020.11:33761894:A:G p.(Ala354=) NC_000020.11:33761894:A:G p.(Ala354=) NC_000020.11:33761894:A:G Identity +NM_001080414.4:c.916C>A NP_001073883.2:p.Arg306= NC_000014.9:91338138:G:T p.(Arg306=) NC_000014.9:91338138:G:T p.(Arg306=) NC_000014.9:91338138:G:T Identity +NM_001384315.1:c.2628C>T NP_001371244.1:p.Ser876= NC_000020.11:41202288:G:A p.(Ser876=) NC_000020.11:41202288:G:A p.(Ser876=) NC_000020.11:41202288:G:A Identity +NM_001004426.3:c.48C>T NP_001004426.1:p.Asn16= NC_000022.11:38169378:G:A p.(Asn16=) NC_000022.11:38169378:G:A p.(Asn16=) NC_000022.11:38169378:G:A Identity +NM_015657.4:c.1708T>C NP_056472.2:p.Leu570= NC_000002.12:215004229:A:G p.(Leu570=) NC_000002.12:215004229:A:G p.(Leu570=) NC_000002.12:215004229:A:G Identity +NM_001174098.2:c.201A>G NP_001167569.1:p.Pro67= NC_000010.11:71322954:A:G p.(Pro67=) NC_000010.11:71322954:A:G p.(Pro67=) NC_000010.11:71322954:A:G Identity +NM_016239.4:c.5947C>T NP_057323.3:p.Leu1983= NC_000017.11:18143601:C:T p.(Leu1983=) NC_000017.11:18143601:C:T p.(Leu1983=) NC_000017.11:18143601:C:T Identity +NM_001018088.3:c.8325C>T NP_001018098.1:p.Ile2775= NC_000015.10:61915752:G:A p.(Ile2775=) NC_000015.10:61915752:G:A p.(Ile2775=) NC_000015.10:61915752:G:A Identity +NM_000307.5:c.306C>T NP_000298.3:p.Ala102= NC_000023.11:83508629:C:T p.(Ala102=) NC_000023.11:83508629:C:T p.(Ala102=) NC_000023.11:83508629:C:T Identity +NM_004995.4:c.1635C>G NP_004986.1:p.Pro545= NC_000014.9:22845924:C:G p.(Pro545=) NC_000014.9:22845924:C:G p.(Pro545=) NC_000014.9:22845924:C:G Identity +NM_001199917.2:c.150A>G NP_001186846.1:p.Gln50= NC_000006.12:83190946:T:C p.(Gln50=) NC_000006.12:83190946:T:C p.(Gln50=) NC_000006.12:83190946:T:C Identity +NM_000540.3:c.14013C>T NP_000531.2:p.Ile4671= NC_000019.10:38573190:C:T p.(Ile4671=) NC_000019.10:38573190:C:T p.(Ile4671=) NC_000019.10:38573190:C:T Identity +NM_207361.6:c.1740G>T NP_997244.4:p.Leu580= NC_000013.11:38689083:G:T p.(Leu580=) NC_000013.11:38689083:G:T p.(Leu580=) NC_000013.11:38689083:G:T Identity +NM_001040113.2:c.105C>A NP_001035202.1:p.Leu35= NC_000016.10:15838147:G:T p.(Leu35=) NC_000016.10:15838147:G:T p.(Leu35=) NC_000016.10:15838147:G:T Identity +NM_001318785.2:c.849C>T NP_001305714.1:p.Asp283= NC_000006.12:87518670:G:A p.(Asp283=) NC_000006.12:87518670:G:A p.(Asp283=) NC_000006.12:87518670:G:A Identity +NM_000721.4:c.6636C>T NP_000712.2:p.Ala2212= NC_000001.11:181798656:C:T p.(Ala2212=) NC_000001.11:181798656:C:T p.(Ala2212=) NC_000001.11:181798656:C:T Identity +NM_031407.7:c.8085A>G NP_113584.3:p.Lys2695= NC_000023.11:53558729:T:C p.(Lys2695=) NC_000023.11:53558729:T:C p.(Lys2695=) NC_000023.11:53558729:T:C Identity +NM_032119.4:c.15210T>G NP_115495.3:p.Thr5070= NC_000005.10:90810469:T:G p.(Thr5070=) NC_000005.10:90810469:T:G p.(Thr5070=) NC_000005.10:90810469:T:G Identity +NM_000369.5:c.1647C>T NP_000360.2:p.Cys549= NC_000014.9:81143704:C:T p.(Cys549=) NC_000014.9:81143704:C:T p.(Cys549=) NC_000014.9:81143704:C:T Identity +NM_000264.5:c.90C>G NP_000255.2:p.Gly30= NC_000009.12:95508271:G:C p.(Gly30=) NC_000009.12:95508271:G:C p.(Gly30=) NC_000009.12:95508271:G:C Identity +NM_000453.3:c.483G>T NP_000444.1:p.Gly161= NC_000019.10:17874670:G:T p.(Gly161=) NC_000019.10:17874670:G:T p.(Gly161=) NC_000019.10:17874670:G:T Identity +NM_001126105.3:c.141G>C NP_001119577.1:p.Val47= NC_000014.9:22813257:C:G p.(Val47=) NC_000014.9:22813257:C:G p.(Val47=) NC_000014.9:22813257:C:G Identity +NM_001376.5:c.7497C>G NP_001367.2:p.Leu2499= NC_000014.9:102016371:C:G p.(Leu2499=) NC_000014.9:102016371:C:G p.(Leu2499=) NC_000014.9:102016371:C:G Identity +NM_001113755.3:c.843G>A NP_001107227.1:p.Val281= NC_000022.11:50526660:C:T p.(Val281=) NC_000022.11:50526660:C:T p.(Val281=) NC_000022.11:50526660:C:T Identity +NM_001130455.2:c.3699C>T NP_001123927.1:p.Asp1233= NC_000002.12:71598738:C:T p.(Asp1233=) NC_000002.12:71598738:C:T p.(Asp1233=) NC_000002.12:71598738:C:T Identity +NM_001605.3:c.126C>G NP_001596.2:p.Ala42= NC_000016.10:70282637:G:C p.(Ala42=) NC_000016.10:70282637:G:C p.(Ala42=) NC_000016.10:70282637:G:C Identity +NM_001135.4:c.2079A>G NP_001126.3:p.Ser693= NC_000015.10:88851845:A:G p.(Ser693=) NC_000015.10:88851845:A:G p.(Ser693=) NC_000015.10:88851845:A:G Identity +NM_001024732.4:c.342T>C NP_001019903.3:p.Asn114= NC_000001.11:29203213:A:G p.(Asn114=) NC_000001.11:29203213:A:G p.(Asn114=) NC_000001.11:29203213:A:G Identity +NM_001370085.1:c.78G>A NP_001357014.1:p.Glu26= NC_000020.11:765696:C:T p.(Glu26=) NC_000020.11:765696:C:T p.(Glu26=) NC_000020.11:765696:C:T Identity +NM_006766.5:c.4191A>G NP_006757.2:p.Glu1397= NC_000008.11:41934028:T:C p.(Glu1397=) NC_000008.11:41934028:T:C p.(Glu1397=) NC_000008.11:41934028:T:C Identity +NM_001193307.2:c.390A>C NP_001180236.1:p.Thr130= NC_000007.14:93105707:T:G p.(Thr130=) NC_000007.14:93105707:T:G p.(Thr130=) NC_000007.14:93105707:T:G Identity +NM_014975.3:c.1404G>A NP_055790.1:p.Ala468= NC_000019.10:12864845:G:A p.(Ala468=) NC_000019.10:12864845:G:A p.(Ala468=) NC_000019.10:12864845:G:A Identity +NM_001080414.4:c.369G>T NP_001073883.2:p.Val123= NC_000014.9:91343628:C:A p.(Val123=) NC_000014.9:91343628:C:A p.(Val123=) NC_000014.9:91343628:C:A Identity +NM_000153.4:c.129C>T NP_000144.2:p.Tyr43= NC_000014.9:87993035:G:A p.(Tyr43=) NC_000014.9:87993035:G:A p.(Tyr43=) NC_000014.9:87993035:G:A Identity +NM_001271769.2:c.1449A>G NP_001258698.1:p.Val483= NC_000005.10:78141196:T:C p.(Val483=) NC_000005.10:78141196:T:C p.(Val483=) NC_000005.10:78141196:T:C Identity +NM_000019.4:c.531T>C NP_000010.1:p.Asp177= NC_000011.10:108138992:T:C p.(Asp177=) NC_000011.10:108138992:T:C p.(Asp177=) NC_000011.10:108138992:T:C Identity +NM_000548.5:c.4086C>G NP_000539.2:p.Val1362= NC_000016.10:2084307:C:G p.(Val1362=) NC_000016.10:2084307:C:G p.(Val1362=) NC_000016.10:2084307:C:G Identity +NM_003126.4:c.4452T>C NP_003117.2:p.Ala1484= NC_000001.11:158642966:A:G p.(Ala1484=) NC_000001.11:158642966:A:G p.(Ala1484=) NC_000001.11:158642966:A:G Identity +NM_000262.3:c.141G>A NP_000253.1:p.Lys47= NC_000022.11:42068449:C:T p.(Lys47=) NC_000022.11:42068449:C:T p.(Lys47=) NC_000022.11:42068449:C:T Identity +NM_000130.5:c.288C>T NP_000121.2:p.Asp96= NC_000001.11:169572305:G:A p.(Asp96=) NC_000001.11:169572305:G:A p.(Asp96=) NC_000001.11:169572305:G:A Identity +NM_014510.3:c.14547A>T NP_055325.2:p.Pro4849= NC_000007.14:82824284:T:A p.(Pro4849=) NC_000007.14:82824284:T:A p.(Pro4849=) NC_000007.14:82824284:T:A Identity +NM_001278531.2:c.1617T>G NP_001265460.1:p.Pro539= NC_000006.12:169779199:T:G p.(Pro539=) NC_000006.12:169779199:T:G p.(Pro539=) NC_000006.12:169779199:T:G Identity +NM_001161683.2:c.1503C>T NP_001155155.1:p.Ser501= NC_000016.10:21719437:C:T p.(Ser501=) NC_000016.10:21719437:C:T p.(Ser501=) NC_000016.10:21719437:C:T Identity +NM_001178074.2:c.201G>C NP_001171545.1:p.Thr67= NC_000012.12:66541885:C:G p.(Thr67=) NC_000012.12:66541885:C:G p.(Thr67=) NC_000012.12:66541885:C:G Identity +NM_007055.4:c.4137C>T NP_008986.2:p.Phe1379= NC_000010.11:77977513:G:A p.(Phe1379=) NC_000010.11:77977513:G:A p.(Phe1379=) NC_000010.11:77977513:G:A Identity +NM_001349715.2:c.321T>C NP_001336644.1:p.Asp107= NC_000001.11:29216645:A:G p.(Asp107=) NC_000001.11:29216645:A:G p.(Asp107=) NC_000001.11:29216645:A:G Identity +NM_001305275.2:c.4923C>T NP_001292204.1:p.Asn1641= NC_000001.11:1050275:C:T p.(Asn1641=) NC_000001.11:1050275:C:T p.(Asn1641=) NC_000001.11:1050275:C:T Identity +NM_000237.3:c.498C>T NP_000228.1:p.Gly166= NC_000008.11:19953377:C:T p.(Gly166=) NC_000008.11:19953377:C:T p.(Gly166=) NC_000008.11:19953377:C:T Identity +NM_001365819.1:c.3225C>T NP_001352748.1:p.Asn1075= NC_000022.11:50460332:G:A p.(Asn1075=) NC_000022.11:50460332:G:A p.(Asn1075=) NC_000022.11:50460332:G:A Identity +NM_001009999.3:c.1392A>G NP_001009999.1:p.Glu464= NC_000001.11:23069129:A:G p.(Glu464=) NC_000001.11:23069129:A:G p.(Glu464=) NC_000001.11:23069129:A:G Identity +NM_004525.3:c.6084C>T NP_004516.2:p.Ala2028= NC_000002.12:169212163:G:A p.(Ala2028=) NC_000002.12:169212163:G:A p.(Ala2028=) NC_000002.12:169212163:G:A Identity +NM_017890.5:c.5811T>C NP_060360.3:p.Ile1937= NC_000008.11:99642325:T:C p.(Ile1937=) NC_000008.11:99642325:T:C p.(Ile1937=) NC_000008.11:99642325:T:C Identity +NM_199242.3:c.1722A>G NP_954712.1:p.Ser574= NC_000017.11:75835651:T:C p.(Ser574=) NC_000017.11:75835651:T:C p.(Ser574=) NC_000017.11:75835651:T:C Identity +NM_001080463.2:c.1398T>A NP_001073932.1:p.Ile466= NC_000011.10:103121408:T:A p.(Ile466=) NC_000011.10:103121408:T:A p.(Ile466=) NC_000011.10:103121408:T:A Identity +NM_001127208.3:c.5445C>A NP_001120680.1:p.Gly1815= NC_000004.12:105275954:C:A p.(Gly1815=) NC_000004.12:105275954:C:A p.(Gly1815=) NC_000004.12:105275954:C:A Identity +NM_001018056.3:c.2034A>G NP_001018066.1:p.Leu678= NC_000009.12:2648739:A:G p.(Leu678=) NC_000009.12:2648739:A:G p.(Leu678=) NC_000009.12:2648739:A:G Identity +NM_001287489.2:c.2202T>C NP_001274418.1:p.Ile734= NC_000002.12:26479275:A:G p.(Ile734=) NC_000002.12:26479275:A:G p.(Ile734=) NC_000002.12:26479275:A:G Identity +NM_001367624.2:c.3900C>T NP_001354553.1:p.Ser1300= NC_000016.10:88431369:C:T p.(Ser1300=) NC_000016.10:88431369:C:T p.(Ser1300=) NC_000016.10:88431369:C:T Identity +NM_000411.8:c.1341A>C NP_000402.3:p.Ser447= NC_000021.9:36896969:T:G p.(Ser447=) NC_000021.9:36896969:T:G p.(Ser447=) NC_000021.9:36896969:T:G Identity +NM_001278268.2:c.765C>T NP_001265197.1:p.Val255= NC_000018.10:62368723:C:T p.(Val255=) NC_000018.10:62368723:C:T p.(Val255=) NC_000018.10:62368723:C:T Identity +NM_014334.4:c.117C>G NP_055149.3:p.Gly39= NC_000009.12:109167021:G:C p.(Gly39=) NC_000009.12:109167021:G:C p.(Gly39=) NC_000009.12:109167021:G:C Identity +NM_001114331.3:c.1596G>A NP_001107803.1:p.Leu532= NC_000016.10:1449276:C:T p.(Leu532=) NC_000016.10:1449276:C:T p.(Leu532=) NC_000016.10:1449276:C:T Identity +NM_001204466.2:c.1494T>C NP_001191395.1:p.Asp498= NC_000023.11:47181981:T:C p.(Asp498=) NC_000023.11:47181981:T:C p.(Asp498=) NC_000023.11:47181981:T:C Identity +NM_001282538.2:c.561T>G NP_001269467.1:p.Ala187= NC_000001.11:1789107:A:C p.(Ala187=) NC_000001.11:1789107:A:C p.(Ala187=) NC_000001.11:1789107:A:C Identity +NM_001163813.2:c.546C>G NP_001157285.1:p.Ala182= NC_000010.11:100993362:C:G p.(Ala182=) NC_000010.11:100993362:C:G p.(Ala182=) NC_000010.11:100993362:C:G Identity +NM_000039.3:c.690G>A NP_000030.1:p.Lys230= NC_000011.10:116835921:C:T p.(Lys230=) NC_000011.10:116835921:C:T p.(Lys230=) NC_000011.10:116835921:C:T Identity +NM_001195139.2:c.885G>T NP_001182068.2:p.Gly295= NC_000016.10:70509335:C:A p.(Gly295=) NC_000016.10:70509335:C:A p.(Gly295=) NC_000016.10:70509335:C:A Identity +NM_001350748.2:c.1494G>A NP_001337677.1:p.Lys498= NC_000013.11:101229524:C:T p.(Lys498=) NC_000013.11:101229524:C:T p.(Lys498=) NC_000013.11:101229524:C:T Identity +NM_001281301.2:c.1818T>G NP_001268230.1:p.Ser606= NC_000015.10:69440847:T:G p.(Ser606=) NC_000015.10:69440847:T:G p.(Ser606=) NC_000015.10:69440847:T:G Identity +NM_001286577.2:c.3627G>A NP_001273506.1:p.Leu1209= NC_000011.10:74090826:C:T p.(Leu1209=) NC_000011.10:74090826:C:T p.(Leu1209=) NC_000011.10:74090826:C:T Identity +NM_012213.3:c.1270C>T NP_036345.2:p.Leu424= NC_000016.10:83915276:C:T p.(Leu424=) NC_000016.10:83915276:C:T p.(Leu424=) NC_000016.10:83915276:C:T Identity +NM_001089.3:c.1644C>T NP_001080.2:p.Ala548= NC_000016.10:2299499:G:A p.(Ala548=) NC_000016.10:2299499:G:A p.(Ala548=) NC_000016.10:2299499:G:A Identity +NM_001142605.2:c.1950C>T NP_001136077.1:p.Ile650= NC_000017.11:44854994:G:A p.(Ile650=) NC_000017.11:44854994:G:A p.(Ile650=) NC_000017.11:44854994:G:A Identity +NM_001205319.1:c.96C>T NP_001192248.1:p.Ala32= NC_000017.11:826018:G:A p.(Ala32=) NC_000017.11:826018:G:A p.(Ala32=) NC_000017.11:826018:G:A Identity +NM_001079515.3:c.609T>C NP_001072983.1:p.Leu203= NC_000001.11:235430752:T:C p.(Leu203=) NC_000001.11:235430752:T:C p.(Leu203=) NC_000001.11:235430752:T:C Identity +NM_001042413.2:c.2034C>T NP_001035878.1:p.Thr678= NC_000009.12:3898784:G:A p.(Thr678=) NC_000009.12:3898784:G:A p.(Thr678=) NC_000009.12:3898784:G:A Identity +NM_001282352.2:c.1626C>T NP_001269281.1:p.Ala542= NC_000019.10:8584931:G:A p.(Ala542=) NC_000019.10:8584931:G:A p.(Ala542=) NC_000019.10:8584931:G:A Identity +NM_001379141.1:c.1128T>C NP_001366070.1:p.Ser376= NC_000018.10:44950467:T:C p.(Ser376=) NC_000018.10:44950467:T:C p.(Ser376=) NC_000018.10:44950467:T:C Identity +NM_001160036.2:c.99C>T NP_001153508.1:p.Asn33= NC_000008.11:23004466:C:T p.(Asn33=) NC_000008.11:23004466:C:T p.(Asn33=) NC_000008.11:23004466:C:T Identity +NM_000400.4:c.768T>A NP_000391.1:p.Leu256= NC_000019.10:45364281:A:T p.(Leu256=) NC_000019.10:45364281:A:T p.(Leu256=) NC_000019.10:45364281:A:T Identity +NM_003659.4:c.1125A>G NP_003650.1:p.Thr375= NC_000002.12:177482077:A:G p.(Thr375=) NC_000002.12:177482077:A:G p.(Thr375=) NC_000002.12:177482077:A:G Identity +NM_001377273.1:c.3771G>A NP_001364202.1:p.Thr1257= NC_000012.12:21818149:C:T p.(Thr1257=) NC_000012.12:21818149:C:T p.(Thr1257=) NC_000012.12:21818149:C:T Identity +NM_005908.4:c.1176A>C NP_005899.3:p.Gly392= NC_000004.12:102671334:T:G p.(Gly392=) NC_000004.12:102671334:T:G p.(Gly392=) NC_000004.12:102671334:T:G Identity +NM_000026.4:c.831G>A NP_000017.1:p.Glu277= NC_000022.11:40361310:G:A p.(Glu277=) NC_000022.11:40361310:G:A p.(Glu277=) NC_000022.11:40361310:G:A Identity +NM_000254.3:c.270A>G NP_000245.2:p.Ala90= NC_000001.11:236806163:A:G p.(Ala90=) NC_000001.11:236806163:A:G p.(Ala90=) NC_000001.11:236806163:A:G Identity +NM_002439.5:c.228G>A NP_002430.3:p.Pro76= NC_000005.10:80654954:G:A p.(Pro76=) NC_000005.10:80654954:G:A p.(Pro76=) NC_000005.10:80654954:G:A Identity +NM_000254.3:c.2325C>T NP_000245.2:p.Ile775= NC_000001.11:236863473:C:T p.(Ile775=) NC_000001.11:236863473:C:T p.(Ile775=) NC_000001.11:236863473:C:T Identity +NM_014918.5:c.1002G>T NP_055733.2:p.Leu334= NC_000015.10:101178794:C:A p.(Leu334=) NC_000015.10:101178794:C:A p.(Leu334=) NC_000015.10:101178794:C:A Identity +NM_000038.6:c.7938A>G NP_000029.2:p.Gln2646= NC_000005.10:112843531:A:G p.(Gln2646=) NC_000005.10:112843531:A:G p.(Gln2646=) NC_000005.10:112843531:A:G Identity +NM_001374385.1:c.357A>T NP_001361314.1:p.Ala119= NC_000018.10:57704590:T:A p.(Ala119=) NC_000018.10:57704590:T:A p.(Ala119=) NC_000018.10:57704590:T:A Identity +NM_001365819.1:c.1845G>T NP_001352748.1:p.Ala615= NC_000022.11:50463339:C:A p.(Ala615=) NC_000022.11:50463339:C:A p.(Ala615=) NC_000022.11:50463339:C:A Identity +NM_001351059.2:c.6G>A NP_001337988.1:p.Lys2= NC_000011.10:68044223:G:A p.(Lys2=) NC_000011.10:68044223:G:A p.(Lys2=) NC_000011.10:68044223:G:A Identity +NM_001031679.3:c.81G>A NP_001026849.1:p.Ser27= NC_000012.12:65326829:G:A p.(Ser27=) NC_000012.12:65326829:G:A p.(Ser27=) NC_000012.12:65326829:G:A Identity +NM_001278503.2:c.1095G>A NP_001265432.1:p.Gln365= NC_000011.10:125609566:G:A p.(Gln365=) NC_000011.10:125609566:G:A p.(Gln365=) NC_000011.10:125609566:G:A Identity +NM_001406506.1:c.219A>C NP_001393435.1:p.Thr73= NC_000018.10:31087795:T:G p.(Thr73=) NC_000018.10:31087795:T:G p.(Thr73=) NC_000018.10:31087795:T:G Identity +NM_001129837.2:c.5571T>C NP_001123309.1:p.Ser1857= NC_000012.12:2682651:T:C p.(Ser1857=) NC_000012.12:2682651:T:C p.(Ser1857=) NC_000012.12:2682651:T:C Identity +NM_014484.5:c.1080G>A NP_055299.1:p.Val360= NC_000020.11:50959921:G:A p.(Val360=) NC_000020.11:50959921:G:A p.(Val360=) NC_000020.11:50959921:G:A Identity +NM_014639.4:c.3768A>G NP_055454.1:p.Leu1256= NC_000005.10:95494715:T:C p.(Leu1256=) NC_000005.10:95494715:T:C p.(Leu1256=) NC_000005.10:95494715:T:C Identity +NM_005012.4:c.1615C>T NP_005003.2:p.Leu539= NC_000001.11:64177655:C:T p.(Leu539=) NC_000001.11:64177655:C:T p.(Leu539=) NC_000001.11:64177655:C:T Identity +NM_001329872.2:c.453A>G NP_001316801.1:p.Leu151= NC_000007.14:30922133:A:G p.(Leu151=) NC_000007.14:30922133:A:G p.(Leu151=) NC_000007.14:30922133:A:G Identity +NM_001004426.3:c.723G>A NP_001004426.1:p.Leu241= NC_000022.11:38140055:C:T p.(Leu241=) NC_000022.11:38140055:C:T p.(Leu241=) NC_000022.11:38140055:C:T Identity +NM_001142966.3:c.1191A>G NP_001136438.1:p.Arg397= NC_000018.10:21441520:A:G p.(Arg397=) NC_000018.10:21441520:A:G p.(Arg397=) NC_000018.10:21441520:A:G Identity +NM_024408.4:c.4884C>T NP_077719.2:p.Asp1628= NC_000001.11:119922753:G:A p.(Asp1628=) NC_000001.11:119922753:G:A p.(Asp1628=) NC_000001.11:119922753:G:A Identity +NM_001083116.3:c.204G>A NP_001076585.1:p.Arg68= NC_000010.11:70600698:C:T p.(Arg68=) NC_000010.11:70600698:C:T p.(Arg68=) NC_000010.11:70600698:C:T Identity +NM_000400.4:c.2223G>A NP_000391.1:p.Leu741= NC_000019.10:45351688:C:T p.(Leu741=) NC_000019.10:45351688:C:T p.(Leu741=) NC_000019.10:45351688:C:T Identity +NM_000130.5:c.2218C>A NP_000121.2:p.Arg740= NC_000001.11:169542871:G:T p.(Arg740=) NC_000001.11:169542871:G:T p.(Arg740=) NC_000001.11:169542871:G:T Identity +NM_005555.4:c.1134G>A NP_005546.2:p.Lys378= NC_000012.12:52448910:C:T p.(Lys378=) NC_000012.12:52448910:C:T p.(Lys378=) NC_000012.12:52448910:C:T Identity +NM_001005862.3:c.774G>A NP_001005862.1:p.Arg258= NC_000017.11:39710443:G:A p.(Arg258=) NC_000017.11:39710443:G:A p.(Arg258=) NC_000017.11:39710443:G:A Identity +NM_001282225.2:c.414C>T NP_001269154.1:p.Phe138= NC_000022.11:17207198:G:A p.(Phe138=) NC_000022.11:17207198:G:A p.(Phe138=) NC_000022.11:17207198:G:A Identity +NM_016938.5:c.48G>T NP_058634.4:p.Ala16= NC_000011.10:65872306:C:A p.(Ala16=) NC_000011.10:65872306:C:A p.(Ala16=) NC_000011.10:65872306:C:A Identity +NM_000147.5:c.6G>C NP_000138.2:p.Arg2= NC_000001.11:23868280:C:G p.(Arg2=) NC_000001.11:23868280:C:G p.(Arg2=) NC_000001.11:23868280:C:G Identity +NM_000509.6:c.33T>A NP_000500.2:p.Ile11= NC_000004.12:154612576:A:T p.(Ile11=) NC_000004.12:154612576:A:T p.(Ile11=) NC_000004.12:154612576:A:T Identity +NM_004525.3:c.3735G>A NP_004516.2:p.Pro1245= NC_000002.12:169241297:C:T p.(Pro1245=) NC_000002.12:169241297:C:T p.(Pro1245=) NC_000002.12:169241297:C:T Identity +NM_001130455.2:c.1290G>A NP_001123927.1:p.Leu430= NC_000002.12:71535022:G:A p.(Leu430=) NC_000002.12:71535022:G:A p.(Leu430=) NC_000002.12:71535022:G:A Identity +NM_144701.3:c.1407C>T NP_653302.2:p.Phe469= NC_000001.11:67258644:C:T p.(Phe469=) NC_000001.11:67258644:C:T p.(Phe469=) NC_000001.11:67258644:C:T Identity +NM_001346754.2:c.849G>A NP_001333683.1:p.Arg283= NC_000017.11:36537949:G:A p.(Arg283=) NC_000017.11:36537949:G:A p.(Arg283=) NC_000017.11:36537949:G:A Identity +NM_002204.4:c.489C>T NP_002195.1:p.Tyr163= NC_000017.11:50068129:C:T p.(Tyr163=) NC_000017.11:50068129:C:T p.(Tyr163=) NC_000017.11:50068129:C:T Identity +NM_001329434.2:c.4623C>T NP_001316363.2:p.Thr1541= NC_000007.14:135645480:C:T p.(Thr1541=) NC_000007.14:135645480:C:T p.(Thr1541=) NC_000007.14:135645480:C:T Identity +NM_001114101.3:c.690C>T NP_001107573.1:p.Ile230= NC_000001.11:22647734:C:T p.(Ile230=) NC_000001.11:22647734:C:T p.(Ile230=) NC_000001.11:22647734:C:T Identity +NM_001080414.4:c.39G>C NP_001073883.2:p.Leu13= NC_000014.9:91417651:C:G p.(Leu13=) NC_000014.9:91417651:C:G p.(Leu13=) NC_000014.9:91417651:C:G Identity +NM_005477.3:c.606G>A NP_005468.1:p.Pro202= NC_000015.10:73367664:C:T p.(Pro202=) NC_000015.10:73367664:C:T p.(Pro202=) NC_000015.10:73367664:C:T Identity +NM_001411101.1:c.2919G>A NP_001398030.1:p.Leu973= NC_000017.11:82929478:G:A p.(Leu973=) NC_000017.11:82929478:G:A p.(Leu973=) NC_000017.11:82929478:G:A Identity +NM_031310.3:c.636G>A NP_112600.1:p.Gln212= NC_000019.10:17365828:C:T p.(Gln212=) NC_000019.10:17365828:C:T p.(Gln212=) NC_000019.10:17365828:C:T Identity +NM_004629.2:c.1248_1249del NP_004620.1:p.Leu416_Cys417insTer NC_000009.12:35075648:ATA:A p.(Cys417Ter) NC_000009.12:35075648:ATA:A p.(Cys417Ter) NC_000009.12:35075648:AT: Analogous +NM_024408.4:c.4398C>T NP_077719.2:p.Cys1466= NC_000001.11:119925417:G:A p.(Cys1466=) NC_000001.11:119925417:G:A p.(Cys1466=) NC_000001.11:119925417:G:A Identity +NM_001270476.2:c.1191G>A NP_001257405.1:p.Lys397= NC_000006.12:43010969:G:A p.(Lys397=) NC_000006.12:43010969:G:A p.(Lys397=) NC_000006.12:43010969:G:A Identity +NM_001002294.3:c.1557A>G NP_001002294.1:p.Ala519= NC_000001.11:171117399:A:G p.(Ala519=) NC_000001.11:171117399:A:G p.(Ala519=) NC_000001.11:171117399:A:G Identity +NM_001323956.2:c.639G>A NP_001310885.1:p.Glu213= NC_000020.11:427431:G:A p.(Glu213=) NC_000020.11:427431:G:A p.(Glu213=) NC_000020.11:427431:G:A Identity +NM_013432.5:c.3861T>G NP_038460.4:p.Pro1287= NC_000008.11:144430485:A:C p.(Pro1287=) NC_000008.11:144430485:A:C p.(Pro1287=) NC_000008.11:144430485:A:C Identity +NM_006231.4:c.6543C>T NP_006222.2:p.Val2181= NC_000012.12:132625758:G:A p.(Val2181=) NC_000012.12:132625758:G:A p.(Val2181=) NC_000012.12:132625758:G:A Identity +NM_000338.3:c.1917C>T NP_000329.2:p.Tyr639= NC_000015.10:48251744:C:T p.(Tyr639=) NC_000015.10:48251744:C:T p.(Tyr639=) NC_000015.10:48251744:C:T Identity +NM_181840.1:c.390G>A NP_862823.1:p.Lys130= NC_000010.11:117209533:G:A p.(Lys130=) NC_000010.11:117209533:G:A p.(Lys130=) NC_000010.11:117209533:G:A Identity +NM_031310.3:c.459C>T NP_112600.1:p.Ser153= NC_000019.10:17366105:G:A p.(Ser153=) NC_000019.10:17366105:G:A p.(Ser153=) NC_000019.10:17366105:G:A Identity +NM_000492.4:c.3129G>A NP_000483.3:p.Leu1043= NC_000007.14:117610658:G:A p.(Leu1043=) NC_000007.14:117610658:G:A p.(Leu1043=) NC_000007.14:117610658:G:A Identity +NM_001178074.2:c.2601G>A NP_001171545.1:p.Thr867= NC_000012.12:66371903:C:T p.(Thr867=) NC_000012.12:66371903:C:T p.(Thr867=) NC_000012.12:66371903:C:T Identity +NM_001256053.2:c.24G>A NP_001242982.1:p.Lys8= NC_000010.11:27100302:C:T p.(Lys8=) NC_000010.11:27100302:C:T p.(Lys8=) NC_000010.11:27100302:C:T Identity +NM_000104.4:c.294T>C NP_000095.2:p.Asn98= NC_000002.12:38075094:A:G p.(Asn98=) NC_000002.12:38075094:A:G p.(Asn98=) NC_000002.12:38075094:A:G Identity +NM_014254.3:c.408C>T NP_055069.1:p.Ile136= NC_000012.12:63785051:C:T p.(Ile136=) NC_000012.12:63785051:C:T p.(Ile136=) NC_000012.12:63785051:C:T Identity +NM_000212.3:c.1593A>G NP_000203.2:p.Gln531= NC_000017.11:47292470:A:G p.(Gln531=) NC_000017.11:47292470:A:G p.(Gln531=) NC_000017.11:47292470:A:G Identity +NM_001318245.2:c.3354C>G NP_001305174.1:p.Val1118= NC_000022.11:25843876:C:G p.(Val1118=) NC_000022.11:25843876:C:G p.(Val1118=) NC_000022.11:25843876:C:G Identity +NM_000521.4:c.264C>G NP_000512.2:p.Gly88= NC_000005.10:74685523:C:G p.(Gly88=) NC_000005.10:74685523:C:G p.(Gly88=) NC_000005.10:74685523:C:G Identity +NM_016653.3:c.1218A>G NP_057737.2:p.Lys406= NC_000002.12:173238386:A:G p.(Lys406=) NC_000002.12:173238386:A:G p.(Lys406=) NC_000002.12:173238386:A:G Identity +NM_001371986.1:c.5505G>C NP_001358915.1:p.Thr1835= NC_000002.12:209921660:G:C p.(Thr1835=) NC_000002.12:209921660:G:C p.(Thr1835=) NC_000002.12:209921660:G:C Identity +NM_001197104.2:c.3999A>T NP_001184033.1:p.Pro1333= NC_000011.10:118482078:A:T p.(Pro1333=) NC_000011.10:118482078:A:T p.(Pro1333=) NC_000011.10:118482078:A:T Identity +NM_000210.4:c.3033G>A NP_000201.2:p.Ser1011= NC_000002.12:172498018:G:A p.(Ser1011=) NC_000002.12:172498018:G:A p.(Ser1011=) NC_000002.12:172498018:G:A Identity +NM_001318511.2:c.258G>A NP_001305440.1:p.Glu86= NC_000018.10:79680204:G:A p.(Glu86=) NC_000018.10:79680204:G:A p.(Glu86=) NC_000018.10:79680204:G:A Identity +NM_001318066.2:c.2766G>A NP_001304995.1:p.Leu922= NC_000004.12:118731420:C:T p.(Leu922=) NC_000004.12:118731420:C:T p.(Leu922=) NC_000004.12:118731420:C:T Identity +NM_175737.4:c.540C>T NP_783864.1:p.Asp180= NC_000004.12:39407488:C:T p.(Asp180=) NC_000004.12:39407488:C:T p.(Asp180=) NC_000004.12:39407488:C:T Identity +NM_000215.4:c.2634G>A NP_000206.2:p.Leu878= NC_000019.10:17832564:C:T p.(Leu878=) NC_000019.10:17832564:C:T p.(Leu878=) NC_000019.10:17832564:C:T Identity +NM_001282933.2:c.783C>A NP_001269862.1:p.Pro261= NC_000020.11:33757188:C:A p.(Pro261=) NC_000020.11:33757188:C:A p.(Pro261=) NC_000020.11:33757188:C:A Identity +NM_000277.3:c.1248A>G NP_000268.1:p.Pro416= NC_000012.12:102840466:T:C p.(Pro416=) NC_000012.12:102840466:T:C p.(Pro416=) NC_000012.12:102840466:T:C Identity +NM_000506.5:c.213C>T NP_000497.1:p.Phe71= NC_000011.10:46719834:C:T p.(Phe71=) NC_000011.10:46719834:C:T p.(Phe71=) NC_000011.10:46719834:C:T Identity +NM_001320252.2:c.297G>A NP_001307181.1:p.Thr99= NC_000001.11:170552113:G:A p.(Thr99=) NC_000001.11:170552113:G:A p.(Thr99=) NC_000001.11:170552113:G:A Identity +NM_001346279.2:c.1875A>G NP_001333208.1:p.Glu625= NC_000011.10:10768075:A:G p.(Glu625=) NC_000011.10:10768075:A:G p.(Glu625=) NC_000011.10:10768075:A:G Identity +NM_001081640.2:c.12024C>T NP_001075109.1:p.Tyr4008= NC_000008.11:47776908:G:A p.(Tyr4008=) NC_000008.11:47776908:G:A p.(Tyr4008=) NC_000008.11:47776908:G:A Identity +NM_001081676.2:c.1311A>G NP_001075145.1:p.Glu437= NC_000002.12:165154520:T:C p.(Glu437=) NC_000002.12:165154520:T:C p.(Glu437=) NC_000002.12:165154520:T:C Identity +NM_025009.5:c.2991G>T NP_079285.2:p.Ser997= NC_000004.12:56017835:G:T p.(Ser997=) NC_000004.12:56017835:G:T p.(Ser997=) NC_000004.12:56017835:G:T Identity +NM_004525.3:c.2868C>T NP_004516.2:p.Tyr956= NC_000002.12:169247417:G:A p.(Tyr956=) NC_000002.12:169247417:G:A p.(Tyr956=) NC_000002.12:169247417:G:A Identity +NM_001205206.4:c.291G>A NP_001192135.1:p.Leu97= NC_000021.9:45532046:C:T p.(Leu97=) NC_000021.9:45532046:C:T p.(Leu97=) NC_000021.9:45532046:C:T Identity +NM_001018111.3:c.1611C>T NP_001018121.1:p.Ser537= NC_000007.14:131504376:G:A p.(Ser537=) NC_000007.14:131504376:G:A p.(Ser537=) NC_000007.14:131504376:G:A Identity +NM_001163771.2:c.181C>A NP_001157243.1:p.Arg61= NC_000006.12:33189370:G:T p.(Arg61=) NC_000006.12:33189370:G:T p.(Arg61=) NC_000006.12:33189370:G:T Identity +NM_000921.5:c.381C>T NP_000912.3:p.Ser127= NC_000012.12:20369664:C:T p.(Ser127=) NC_000012.12:20369664:C:T p.(Ser127=) NC_000012.12:20369664:C:T Identity +NM_172089.4:c.360C>T NP_742086.1:p.Asp120= NC_000017.11:7550964:C:T p.(Asp120=) NC_000017.11:7550964:C:T p.(Asp120=) NC_000017.11:7550964:C:T Identity +NM_001365819.1:c.2028G>A NP_001352748.1:p.Val676= NC_000022.11:50462660:C:T p.(Val676=) NC_000022.11:50462660:C:T p.(Val676=) NC_000022.11:50462660:C:T Identity +NM_001330504.2:c.594A>G NP_001317433.1:p.Gly198= NC_000016.10:5079772:A:G p.(Gly198=) NC_000016.10:5079772:A:G p.(Gly198=) NC_000016.10:5079772:A:G Identity +NM_001025356.3:c.2529C>T NP_001020527.2:p.His843= NC_000012.12:45429106:C:T p.(His843=) NC_000012.12:45429106:C:T p.(His843=) NC_000012.12:45429106:C:T Identity +NM_032856.5:c.990C>T NP_116245.2:p.His330= NC_000015.10:84643616:G:A p.(His330=) NC_000015.10:84643616:G:A p.(His330=) NC_000015.10:84643616:G:A Identity +NM_000130.5:c.5737C>T NP_000121.2:p.Leu1913= NC_000001.11:169524887:G:A p.(Leu1913=) NC_000001.11:169524887:G:A p.(Leu1913=) NC_000001.11:169524887:G:A Identity +NM_003227.4:c.171G>A NP_003218.2:p.Arg57= NC_000007.14:100641090:C:T p.(Arg57=) NC_000007.14:100641090:C:T p.(Arg57=) NC_000007.14:100641090:C:T Identity +NM_001350912.2:c.1077A>G NP_001337841.1:p.Leu359= NC_000012.12:21468540:A:G p.(Leu359=) NC_000012.12:21468540:A:G p.(Leu359=) NC_000012.12:21468540:A:G Identity +NM_001039675.2:c.630G>A NP_001034764.1:p.Glu210= NC_000015.10:90940460:G:A p.(Glu210=) NC_000015.10:90940460:G:A p.(Glu210=) NC_000015.10:90940460:G:A Identity +NM_183075.3:c.891C>T NP_898898.1:p.Phe297= NC_000004.12:107945369:C:T p.(Phe297=) NC_000004.12:107945369:C:T p.(Phe297=) NC_000004.12:107945369:C:T Identity +NM_000183.3:c.762G>A NP_000174.1:p.Lys254= NC_000002.12:26279265:G:A p.(Lys254=) NC_000002.12:26279265:G:A p.(Lys254=) NC_000002.12:26279265:G:A Identity +NM_001130823.3:c.48G>A NP_001124295.1:p.Pro16= NC_000019.10:10194851:C:T p.(Pro16=) NC_000019.10:10194851:C:T p.(Pro16=) NC_000019.10:10194851:C:T Identity +NM_001303458.3:c.873C>T NP_001290387.1:p.Phe291= NC_000020.11:43623994:C:T p.(Phe291=) NC_000020.11:43623994:C:T p.(Phe291=) NC_000020.11:43623994:C:T Identity +NM_001012614.2:c.1119C>T NP_001012632.1:p.Gly373= NC_000004.12:1212410:G:A p.(Gly373=) NC_000004.12:1212410:G:A p.(Gly373=) NC_000004.12:1212410:G:A Identity +NM_001011649.3:c.3006C>T NP_001011649.1:p.Pro1002= NC_000009.12:120447913:G:A p.(Pro1002=) NC_000009.12:120447913:G:A p.(Pro1002=) NC_000009.12:120447913:G:A Identity +NM_001411138.1:c.2511G>A NP_001398067.1:p.Gly837= NC_000019.10:13928182:G:A p.(Gly837=) NC_000019.10:13928182:G:A p.(Gly837=) NC_000019.10:13928182:G:A Identity +NM_001083961.2:c.432G>A NP_001077430.1:p.Glu144= NC_000019.10:36066297:G:A p.(Glu144=) NC_000019.10:36066297:G:A p.(Glu144=) NC_000019.10:36066297:G:A Identity +NM_001080414.4:c.1338A>G NP_001073883.2:p.Ser446= NC_000014.9:91324782:T:C p.(Ser446=) NC_000014.9:91324782:T:C p.(Ser446=) NC_000014.9:91324782:T:C Identity +NM_000071.3:c.582T>C NP_000062.1:p.Asn194= NC_000021.9:43065470:A:G p.(Asn194=) NC_000021.9:43065470:A:G p.(Asn194=) NC_000021.9:43065470:A:G Identity +NM_001999.4:c.3246G>A NP_001990.2:p.Gly1082= NC_000005.10:128344481:C:T p.(Gly1082=) NC_000005.10:128344481:C:T p.(Gly1082=) NC_000005.10:128344481:C:T Identity +NM_015657.4:c.5550C>T NP_056472.2:p.Phe1850= NC_000002.12:214953996:G:A p.(Phe1850=) NC_000002.12:214953996:G:A p.(Phe1850=) NC_000002.12:214953996:G:A Identity +NM_001447.3:c.9891C>T NP_001438.1:p.Ser3297= NC_000005.10:151529312:G:A p.(Ser3297=) NC_000005.10:151529312:G:A p.(Ser3297=) NC_000005.10:151529312:G:A Identity +NM_001410842.1:c.522T>C NP_001397771.1:p.Phe174= NC_000004.12:139342944:T:C p.(Phe174=) NC_000004.12:139342944:T:C p.(Phe174=) NC_000004.12:139342944:T:C Identity +NM_000130.5:c.1449T>C NP_000121.2:p.Tyr483= NC_000001.11:169549962:A:G p.(Tyr483=) NC_000001.11:169549962:A:G p.(Tyr483=) NC_000001.11:169549962:A:G Identity +NM_001290185.2:c.330G>A NP_001277114.1:p.Lys110= NC_000011.10:119069464:G:A p.(Lys110=) NC_000011.10:119069464:G:A p.(Lys110=) NC_000011.10:119069464:G:A Identity +NM_000159.4:c.363G>A NP_000150.1:p.Val121= NC_000019.10:12893510:G:A p.(Val121=) NC_000019.10:12893510:G:A p.(Val121=) NC_000019.10:12893510:G:A Identity +NM_015657.4:c.5058T>C NP_056472.2:p.Phe1686= NC_000002.12:214958381:A:G p.(Phe1686=) NC_000002.12:214958381:A:G p.(Phe1686=) NC_000002.12:214958381:A:G Identity +NM_006903.4:c.789C>T NP_008834.3:p.Asn263= NC_000004.12:105386629:G:A p.(Asn263=) NC_000004.12:105386629:G:A p.(Asn263=) NC_000004.12:105386629:G:A Identity +NM_016941.4:c.837C>T NP_058637.1:p.Asp279= NC_000019.10:39504254:C:T p.(Asp279=) NC_000019.10:39504254:C:T p.(Asp279=) NC_000019.10:39504254:C:T Identity +NM_001130698.2:c.612G>A NP_001124170.1:p.Lys204= NC_000004.12:121932645:C:T p.(Lys204=) NC_000004.12:121932645:C:T p.(Lys204=) NC_000004.12:121932645:C:T Identity +NM_001102406.2:c.876G>A NP_001095876.1:p.Thr292= NC_000004.12:112429228:G:A p.(Thr292=) NC_000004.12:112429228:G:A p.(Thr292=) NC_000004.12:112429228:G:A Identity +NM_001320591.2:c.1809T>C NP_001307520.1:p.Asn603= NC_000010.11:110132380:T:C p.(Asn603=) NC_000010.11:110132380:T:C p.(Asn603=) NC_000010.11:110132380:T:C Identity +NM_001256182.2:c.5340C>G NP_001243111.1:p.Ala1780= NC_000016.10:89281201:G:C p.(Ala1780=) NC_000016.10:89281201:G:C p.(Ala1780=) NC_000016.10:89281201:G:C Identity +NM_000228.3:c.1122G>A NP_000219.2:p.Glu374= NC_000001.11:209629746:C:T p.(Glu374=) NC_000001.11:209629746:C:T p.(Glu374=) NC_000001.11:209629746:C:T Identity +NM_001410705.1:c.3912C>T NP_001397634.1:p.Thr1304= NC_000023.11:153954486:G:A p.(Thr1304=) NC_000023.11:153954486:G:A p.(Thr1304=) NC_000023.11:153954486:G:A Identity +NM_001114978.2:c.489C>T NP_001108450.1:p.Pro163= NC_000003.12:189808435:C:T p.(Pro163=) NC_000003.12:189808435:C:T p.(Pro163=) NC_000003.12:189808435:C:T Identity +NM_001018056.3:c.1572C>T NP_001018066.1:p.Tyr524= NC_000009.12:2646420:C:T p.(Tyr524=) NC_000009.12:2646420:C:T p.(Tyr524=) NC_000009.12:2646420:C:T Identity +NM_015657.4:c.5124C>T NP_056472.2:p.Gly1708= NC_000002.12:214958315:G:A p.(Gly1708=) NC_000002.12:214958315:G:A p.(Gly1708=) NC_000002.12:214958315:G:A Identity +NM_001105540.2:c.816C>T NP_001099010.1:p.Ile272= NC_000011.10:46367377:C:T p.(Ile272=) NC_000011.10:46367377:C:T p.(Ile272=) NC_000011.10:46367377:C:T Identity +NM_000276.4:c.1350C>T NP_000267.2:p.Phe450= NC_000023.11:129565876:C:T p.(Phe450=) NC_000023.11:129565876:C:T p.(Phe450=) NC_000023.11:129565876:C:T Identity +NM_005101.4:c.234C>T NP_005092.1:p.Cys78= NC_000001.11:1014213:C:T p.(Cys78=) NC_000001.11:1014213:C:T p.(Cys78=) NC_000001.11:1014213:C:T Identity +NM_000381.4:c.1728G>A NP_000372.1:p.Ala576= NC_000023.11:10449643:C:T p.(Ala576=) NC_000023.11:10449643:C:T p.(Ala576=) NC_000023.11:10449643:C:T Identity +NM_175875.5:c.246G>A NP_787071.3:p.Thr82= NC_000019.10:45768598:C:T p.(Thr82=) NC_000019.10:45768598:C:T p.(Thr82=) NC_000019.10:45768598:C:T Identity +NM_001411138.1:c.1716C>G NP_001398067.1:p.Ala572= NC_000019.10:13923406:C:G p.(Ala572=) NC_000019.10:13923406:C:G p.(Ala572=) NC_000019.10:13923406:C:G Identity +NM_001281301.2:c.1803T>C NP_001268230.1:p.His601= NC_000015.10:69440832:T:C p.(His601=) NC_000015.10:69440832:T:C p.(His601=) NC_000015.10:69440832:T:C Identity +NM_000291.4:c.426C>T NP_000282.1:p.Ala142= NC_000023.11:78117319:C:T p.(Ala142=) NC_000023.11:78117319:C:T p.(Ala142=) NC_000023.11:78117319:C:T Identity +NM_015384.5:c.4617A>G NP_056199.2:p.Gln1539= NC_000005.10:37014738:A:G p.(Gln1539=) NC_000005.10:37014738:A:G p.(Gln1539=) NC_000005.10:37014738:A:G Identity +NM_001142597.2:c.567C>T NP_001136069.1:p.Val189= NC_000011.10:57660916:C:T p.(Val189=) NC_000011.10:57660916:C:T p.(Val189=) NC_000011.10:57660916:C:T Identity +NM_000080.4:c.1302G>A NP_000071.1:p.Thr434= NC_000017.11:4899024:C:T p.(Thr434=) NC_000017.11:4899024:C:T p.(Thr434=) NC_000017.11:4899024:C:T Identity +NM_001135599.4:c.1074A>G NP_001129071.1:p.Leu358= NC_000001.11:218437399:A:G p.(Leu358=) NC_000001.11:218437399:A:G p.(Leu358=) NC_000001.11:218437399:A:G Identity +NM_001033046.4:c.465G>A NP_001028218.1:p.Lys155= NC_000017.11:82444102:C:T p.(Lys155=) NC_000017.11:82444102:C:T p.(Lys155=) NC_000017.11:82444102:C:T Identity +NM_001414.4:c.363T>C NP_001405.1:p.Asp121= NC_000012.12:123630174:A:G p.(Asp121=) NC_000012.12:123630174:A:G p.(Asp121=) NC_000012.12:123630174:A:G Identity +NM_001384315.1:c.2454A>G NP_001371244.1:p.Ala818= NC_000020.11:41202462:T:C p.(Ala818=) NC_000020.11:41202462:T:C p.(Ala818=) NC_000020.11:41202462:T:C Identity +NM_001308006.2:c.204C>T NP_001294935.1:p.Val68= NC_000018.10:49565422:C:T p.(Val68=) NC_000018.10:49565422:C:T p.(Val68=) NC_000018.10:49565422:C:T Identity +NM_001080463.2:c.10230T>G NP_001073932.1:p.Leu3410= NC_000011.10:103255416:T:G p.(Leu3410=) NC_000011.10:103255416:T:G p.(Leu3410=) NC_000011.10:103255416:T:G Identity +NM_001197104.2:c.2985A>T NP_001184033.1:p.Ser995= NC_000011.10:118474143:A:T p.(Ser995=) NC_000011.10:118474143:A:T p.(Ser995=) NC_000011.10:118474143:A:T Identity +NM_001394062.1:c.15801A>G NP_001380991.1:p.Gln5267= NC_000001.11:39388642:A:G p.(Gln5267=) NC_000001.11:39388642:A:G p.(Gln5267=) NC_000001.11:39388642:A:G Identity +NM_001290307.3:c.149_154del NP_001277236.1:p.Lys50_Lys51del NC_000005.10:138783218:AAGAAGA:A p.(Lys50_Lys51del) NC_000005.10:138783218:AAGAAGA:A p.(Lys50_Lys51del) NC_000005.10:138783219:AGAAGA: Identity +NM_000355.4:c.882C>A NP_000346.2:p.Pro294= NC_000022.11:30615728:C:A p.(Pro294=) NC_000022.11:30615728:C:A p.(Pro294=) NC_000022.11:30615728:C:A Identity +NM_003362.4:c.285G>C NP_003353.1:p.Gly95= NC_000012.12:109098610:G:C p.(Gly95=) NC_000012.12:109098610:G:C p.(Gly95=) NC_000012.12:109098610:G:C Identity +NM_001136052.3:c.357C>T NP_001129524.1:p.Ile119= NC_000019.10:49700758:C:T p.(Ile119=) NC_000019.10:49700758:C:T p.(Ile119=) NC_000019.10:49700758:C:T Identity +NM_001199.4:c.579C>T NP_001190.1:p.Gly193= NC_000008.11:22176987:C:T p.(Gly193=) NC_000008.11:22176987:C:T p.(Gly193=) NC_000008.11:22176987:C:T Identity +NM_001243776.2:c.1428A>G NP_001230705.1:p.Gln476= NC_000011.10:95831207:A:G p.(Gln476=) NC_000011.10:95831207:A:G p.(Gln476=) NC_000011.10:95831207:A:G Identity +NM_000512.5:c.1509G>A NP_000503.1:p.Lys503= NC_000016.10:88814498:C:T p.(Lys503=) NC_000016.10:88814498:C:T p.(Lys503=) NC_000016.10:88814498:C:T Identity +NM_001130103.2:c.1767G>A NP_001123575.1:p.Gly589= NC_000010.11:69937636:G:A p.(Gly589=) NC_000010.11:69937636:G:A p.(Gly589=) NC_000010.11:69937636:G:A Identity +NM_012179.4:c.33C>G NP_036311.3:p.Thr11= NC_000022.11:32475034:C:G p.(Thr11=) NC_000022.11:32475034:C:G p.(Thr11=) NC_000022.11:32475034:C:G Identity +NM_001379352.1:c.18G>A NP_001366281.1:p.Gln6= NC_000001.11:146020213:C:T p.(Gln6=) NC_000001.11:146020213:C:T p.(Gln6=) NC_000001.11:146020213:C:T Identity +NM_006660.5:c.33G>T NP_006651.2:p.Ala11= NC_000015.10:65185120:C:A p.(Ala11=) NC_000015.10:65185120:C:A p.(Ala11=) NC_000015.10:65185120:C:A Identity +NM_001315529.2:c.436C>T NP_001302458.1:p.Leu146= NC_000021.9:46346811:C:T p.(Leu146=) NC_000021.9:46346811:C:T p.(Leu146=) NC_000021.9:46346811:C:T Identity +NM_001363734.1:c.3177G>A NP_001350663.1:p.Lys1059= NC_000020.11:32436071:G:A p.(Lys1059=) NC_000020.11:32436071:G:A p.(Lys1059=) NC_000020.11:32436071:G:A Identity +NM_001110792.2:c.729G>A NP_001104262.1:p.Gly243= NC_000023.11:154031134:C:T p.(Gly243=) NC_000023.11:154031134:C:T p.(Gly243=) NC_000023.11:154031134:C:T Identity +NM_001177428.1:c.867T>G NP_001170899.1:p.Arg289= NC_000012.12:109798757:A:C p.(Arg289=) NC_000012.12:109798757:A:C p.(Arg289=) NC_000012.12:109798757:A:C Identity +NM_001367624.2:c.9213C>T NP_001354553.1:p.Pro3071= NC_000016.10:88436682:C:T p.(Pro3071=) NC_000016.10:88436682:C:T p.(Pro3071=) NC_000016.10:88436682:C:T Identity +NM_001329939.2:c.1173T>C NP_001316868.1:p.Tyr391= NC_000014.9:75959252:A:G p.(Tyr391=) NC_000014.9:75959252:A:G p.(Tyr391=) NC_000014.9:75959252:A:G Identity +NM_003737.4:c.4218G>C NP_003728.1:p.Thr1406= NC_000011.10:6630575:C:G p.(Thr1406=) NC_000011.10:6630575:C:G p.(Thr1406=) NC_000011.10:6630575:C:G Identity +NM_001316767.2:c.15T>C NP_001303696.1:p.Ile5= NC_000001.11:146018664:A:G p.(Ile5=) NC_000001.11:146018664:A:G p.(Ile5=) NC_000001.11:146018664:A:G Identity +NM_001315529.2:c.7263G>A NP_001302458.1:p.Leu2421= NC_000021.9:46428516:G:A p.(Leu2421=) NC_000021.9:46428516:G:A p.(Leu2421=) NC_000021.9:46428516:G:A Identity +NM_001315529.2:c.6897C>T NP_001302458.1:p.Ser2299= NC_000021.9:46425901:C:T p.(Ser2299=) NC_000021.9:46425901:C:T p.(Ser2299=) NC_000021.9:46425901:C:T Identity +NM_001014797.3:c.1245C>T NP_001014797.1:p.His415= NC_000010.11:77090488:G:A p.(His415=) NC_000010.11:77090488:G:A p.(His415=) NC_000010.11:77090488:G:A Identity +NM_000449.4:c.1051C>T NP_000440.1:p.Leu351= NC_000001.11:151342985:G:A p.(Leu351=) NC_000001.11:151342985:G:A p.(Leu351=) NC_000001.11:151342985:G:A Identity +NM_001270399.2:c.1035T>C NP_001257328.1:p.Asp345= NC_000012.12:49185330:A:G p.(Asp345=) NC_000012.12:49185330:A:G p.(Asp345=) NC_000012.12:49185330:A:G Identity +NM_000506.5:c.501C>T NP_000497.1:p.Pro167= NC_000011.10:46723459:C:T p.(Pro167=) NC_000011.10:46723459:C:T p.(Pro167=) NC_000011.10:46723459:C:T Identity +NM_001197104.2:c.11115A>G NP_001184033.1:p.Ser3705= NC_000011.10:118511993:A:G p.(Ser3705=) NC_000011.10:118511993:A:G p.(Ser3705=) NC_000011.10:118511993:A:G Identity +NM_000547.6:c.2691A>C NP_000538.3:p.Gly897= NC_000002.12:1540665:A:C p.(Gly897=) NC_000002.12:1540665:A:C p.(Gly897=) NC_000002.12:1540665:A:C Identity +NM_000782.5:c.1446A>G NP_000773.2:p.Lys482= NC_000020.11:54157277:T:C p.(Lys482=) NC_000020.11:54157277:T:C p.(Lys482=) NC_000020.11:54157277:T:C Identity +NM_000319.5:c.1110C>G NP_000310.2:p.Thr370= NC_000012.12:7208032:C:G p.(Thr370=) NC_000012.12:7208032:C:G p.(Thr370=) NC_000012.12:7208032:C:G Identity +NM_001303256.3:c.441G>A NP_001290185.1:p.Leu147= NC_000022.11:30942256:C:T p.(Leu147=) NC_000022.11:30942256:C:T p.(Leu147=) NC_000022.11:30942256:C:T Identity +NM_000260.4:c.3528C>T NP_000251.3:p.Ser1176= NC_000011.10:77189367:C:T p.(Ser1176=) NC_000011.10:77189367:C:T p.(Ser1176=) NC_000011.10:77189367:C:T Identity +NM_003482.4:c.3201G>A NP_003473.3:p.Glu1067= NC_000012.12:49050386:C:T p.(Glu1067=) NC_000012.12:49050386:C:T p.(Glu1067=) NC_000012.12:49050386:C:T Identity +NM_001288951.2:c.1653C>G NP_001275880.1:p.Ala551= NC_000002.12:47029234:C:G p.(Ala551=) NC_000002.12:47029234:C:G p.(Ala551=) NC_000002.12:47029234:C:G Identity +NM_001316350.2:c.798C>T NP_001303279.1:p.Tyr266= NC_000001.11:231266332:C:T p.(Tyr266=) NC_000001.11:231266332:C:T p.(Tyr266=) NC_000001.11:231266332:C:T Identity +NM_001207000.1:c.852A>G NP_001193929.1:p.Glu284= NC_000004.12:82427486:T:C p.(Glu284=) NC_000004.12:82427486:T:C p.(Glu284=) NC_000004.12:82427486:T:C Identity +NM_000130.5:c.420C>T NP_000121.2:p.Asp140= NC_000001.11:169560719:G:A p.(Asp140=) NC_000001.11:169560719:G:A p.(Asp140=) NC_000001.11:169560719:G:A Identity +NM_001127217.3:c.351T>C NP_001120689.1:p.Phe117= NC_000013.11:36879338:A:G p.(Phe117=) NC_000013.11:36879338:A:G p.(Phe117=) NC_000013.11:36879338:A:G Identity +NM_017890.5:c.10713G>A NP_060360.3:p.Gln3571= NC_000008.11:99854026:G:A p.(Gln3571=) NC_000008.11:99854026:G:A p.(Gln3571=) NC_000008.11:99854026:G:A Identity +NM_002838.5:c.3363A>G NP_002829.3:p.Gln1121= NC_000001.11:198752625:A:G p.(Gln1121=) NC_000001.11:198752625:A:G p.(Gln1121=) NC_000001.11:198752625:A:G Identity +NM_000540.3:c.6708C>G NP_000531.2:p.Leu2236= NC_000019.10:38496452:C:G p.(Leu2236=) NC_000019.10:38496452:C:G p.(Leu2236=) NC_000019.10:38496452:C:G Identity +NM_001315529.2:c.2271T>C NP_001302458.1:p.Arg757= NC_000021.9:46366598:T:C p.(Arg757=) NC_000021.9:46366598:T:C p.(Arg757=) NC_000021.9:46366598:T:C Identity +NM_000304.4:c.153C>T NP_000295.1:p.His51= NC_000017.11:15259118:G:A p.(His51=) NC_000017.11:15259118:G:A p.(His51=) NC_000017.11:15259118:G:A Identity +NM_001318038.3:c.804C>G NP_001304967.1:p.Ala268= NC_000022.11:42693147:G:C p.(Ala268=) NC_000022.11:42693147:G:C p.(Ala268=) NC_000022.11:42693147:G:C Identity +NM_001201543.2:c.1227C>G NP_001188472.1:p.Pro409= NC_000002.12:61839776:G:C p.(Pro409=) NC_000002.12:61839776:G:C p.(Pro409=) NC_000002.12:61839776:G:C Identity +NM_001371411.1:c.324T>C NP_001358340.1:p.Val108= NC_000002.12:227699390:A:G p.(Val108=) NC_000002.12:227699390:A:G p.(Val108=) NC_000002.12:227699390:A:G Identity +NM_001346279.2:c.3312C>T NP_001333208.1:p.Ala1104= NC_000011.10:10778966:C:T p.(Ala1104=) NC_000011.10:10778966:C:T p.(Ala1104=) NC_000011.10:10778966:C:T Identity +NM_001393363.1:c.195C>T NP_001380292.1:p.Gly65= NC_000003.12:33114271:C:T p.(Gly65=) NC_000003.12:33114271:C:T p.(Gly65=) NC_000003.12:33114271:C:T Identity +NM_001041.4:c.3747T>A NP_001032.2:p.Ala1249= NC_000003.12:165017559:A:T p.(Ala1249=) NC_000003.12:165017559:A:T p.(Ala1249=) NC_000003.12:165017559:A:T Identity +NM_016350.5:c.2040G>A NP_057434.4:p.Gln680= NC_000014.9:50760215:C:T p.(Gln680=) NC_000014.9:50760215:C:T p.(Gln680=) NC_000014.9:50760215:C:T Identity +NM_015884.4:c.1482G>T NP_056968.1:p.Gly494= NC_000023.11:21882576:G:T p.(Gly494=) NC_000023.11:21882576:G:T p.(Gly494=) NC_000023.11:21882576:G:T Identity +NM_000422.3:c.9C>T NP_000413.1:p.Thr3= NC_000017.11:41624500:G:A p.(Thr3=) NC_000017.11:41624500:G:A p.(Thr3=) NC_000017.11:41624500:G:A Identity +NM_001369614.1:c.726C>T NP_001356543.1:p.Pro242= NC_000017.11:38735531:G:A p.(Pro242=) NC_000017.11:38735531:G:A p.(Pro242=) NC_000017.11:38735531:G:A Identity +NM_001354263.2:c.3681C>T NP_001341192.1:p.Ala1227= NC_000009.12:137834509:C:T p.(Ala1227=) NC_000009.12:137834509:C:T p.(Ala1227=) NC_000009.12:137834509:C:T Identity +NM_001350888.2:c.1806T>C NP_001337817.1:p.Ala602= NC_000014.9:96483119:T:C p.(Ala602=) NC_000014.9:96483119:T:C p.(Ala602=) NC_000014.9:96483119:T:C Identity +NM_003737.4:c.8820C>T NP_003728.1:p.Ala2940= NC_000011.10:6622855:G:A p.(Ala2940=) NC_000011.10:6622855:G:A p.(Ala2940=) NC_000011.10:6622855:G:A Identity +NM_001128204.2:c.462T>C NP_001121676.1:p.Pro154= NC_000008.11:69586405:T:C p.(Pro154=) NC_000008.11:69586405:T:C p.(Pro154=) NC_000008.11:69586405:T:C Identity +NM_001174116.3:c.3867T>C NP_001167587.1:p.Asn1289= NC_000015.10:51499356:A:G p.(Asn1289=) NC_000015.10:51499356:A:G p.(Asn1289=) NC_000015.10:51499356:A:G Identity +NM_001127207.2:c.1125C>T NP_001120679.1:p.Leu375= NC_000002.12:216423660:C:T p.(Leu375=) NC_000002.12:216423660:C:T p.(Leu375=) NC_000002.12:216423660:C:T Identity +NM_001172574.2:c.1170G>A NP_001166045.2:p.Ser390= NC_000008.11:6444891:G:A p.(Ser390=) NC_000008.11:6444891:G:A p.(Ser390=) NC_000008.11:6444891:G:A Identity +NM_001212.4:c.387C>A NP_001203.1:p.Ile129= NC_000017.11:5434962:G:T p.(Ile129=) NC_000017.11:5434962:G:T p.(Ile129=) NC_000017.11:5434962:G:T Identity +NM_001042517.2:c.204G>A NP_001035982.1:p.Thr68= NC_000013.11:60132965:C:T p.(Thr68=) NC_000013.11:60132965:C:T p.(Thr68=) NC_000013.11:60132965:C:T Identity +NM_000547.6:c.2346C>T NP_000538.3:p.Cys782= NC_000002.12:1496724:C:T p.(Cys782=) NC_000002.12:1496724:C:T p.(Cys782=) NC_000002.12:1496724:C:T Identity +NM_001160227.2:c.5907A>G NP_001153699.1:p.Thr1969= NC_000015.10:44572779:T:C p.(Thr1969=) NC_000015.10:44572779:T:C p.(Thr1969=) NC_000015.10:44572779:T:C Identity +NM_003105.6:c.5016C>T NP_003096.2:p.His1672= NC_000011.10:121606911:C:T p.(His1672=) NC_000011.10:121606911:C:T p.(His1672=) NC_000011.10:121606911:C:T Identity +NM_001376.5:c.11442C>T NP_001367.2:p.Thr3814= NC_000014.9:102039235:C:T p.(Thr3814=) NC_000014.9:102039235:C:T p.(Thr3814=) NC_000014.9:102039235:C:T Identity +NM_001009999.3:c.1062A>T NP_001009999.1:p.Val354= NC_000001.11:23057554:A:T p.(Val354=) NC_000001.11:23057554:A:T p.(Val354=) NC_000001.11:23057554:A:T Identity +NM_000270.4:c.531C>T NP_000261.2:p.Thr177= NC_000014.9:20475130:C:T p.(Thr177=) NC_000014.9:20475130:C:T p.(Thr177=) NC_000014.9:20475130:C:T Identity +NM_001164313.2:c.210G>T NP_001157785.1:p.Gly70= NC_000006.12:109481816:C:A p.(Gly70=) NC_000006.12:109481816:C:A p.(Gly70=) NC_000006.12:109481816:C:A Identity +NM_001287489.2:c.2157G>A NP_001274418.1:p.Pro719= NC_000002.12:26479320:C:T p.(Pro719=) NC_000002.12:26479320:C:T p.(Pro719=) NC_000002.12:26479320:C:T Identity +NM_000124.4:c.1954C>A NP_000115.1:p.Arg652= NC_000010.11:49483383:G:T p.(Arg652=) NC_000010.11:49483383:G:T p.(Arg652=) NC_000010.11:49483383:G:T Identity +NM_018646.6:c.603C>T NP_061116.5:p.Tyr201= NC_000007.14:142877145:G:A p.(Tyr201=) NC_000007.14:142877145:G:A p.(Tyr201=) NC_000007.14:142877145:G:A Identity +NM_001349896.1:c.1896C>A NP_001336825.1:p.Ala632= NC_000022.11:26457917:G:T p.(Ala632=) NC_000022.11:26457917:G:T p.(Ala632=) NC_000022.11:26457917:G:T Identity +NM_001287489.2:c.4923C>T NP_001274418.1:p.Arg1641= NC_000002.12:26464905:G:A p.(Arg1641=) NC_000002.12:26464905:G:A p.(Arg1641=) NC_000002.12:26464905:G:A Identity +NM_001174116.3:c.5877G>A NP_001167587.1:p.Gln1959= NC_000015.10:51481228:C:T p.(Gln1959=) NC_000015.10:51481228:C:T p.(Gln1959=) NC_000015.10:51481228:C:T Identity +NM_000028.3:c.2493T>C NP_000019.2:p.Tyr831= NC_000001.11:99884397:T:C p.(Tyr831=) NC_000001.11:99884397:T:C p.(Tyr831=) NC_000001.11:99884397:T:C Identity +NM_001308122.2:c.70C>T NP_001295051.1:p.Leu24= NC_000005.10:132370041:C:T p.(Leu24=) NC_000005.10:132370041:C:T p.(Leu24=) NC_000005.10:132370041:C:T Identity +NM_001193493.2:c.198G>A NP_001180422.1:p.Lys66= NC_000002.12:65018127:G:A p.(Lys66=) NC_000002.12:65018127:G:A p.(Lys66=) NC_000002.12:65018127:G:A Identity +NM_001128844.3:c.438T>G NP_001122316.1:p.Ser146= NC_000019.10:10986270:T:G p.(Ser146=) NC_000019.10:10986270:T:G p.(Ser146=) NC_000019.10:10986270:T:G Identity +NM_000109.4:c.1335G>A NP_000100.3:p.Gln445= NC_000023.11:32614425:C:T p.(Gln445=) NC_000023.11:32614425:C:T p.(Gln445=) NC_000023.11:32614425:C:T Identity +NM_012179.4:c.249A>G NP_036311.3:p.Pro83= NC_000022.11:32479106:A:G p.(Pro83=) NC_000022.11:32479106:A:G p.(Pro83=) NC_000022.11:32479106:A:G Identity +NM_001369786.1:c.426T>A NP_001356715.1:p.Ile142= NC_000012.12:25225637:A:T p.(Ile142=) NC_000012.12:25225637:A:T p.(Ile142=) NC_000012.12:25225637:A:T Identity +NM_001184824.4:c.1131T>C NP_001171753.1:p.Phe377= NC_000016.10:68347635:T:C p.(Phe377=) NC_000016.10:68347635:T:C p.(Phe377=) NC_000016.10:68347635:T:C Identity +NM_000489.6:c.525A>G NP_000480.3:p.Gly175= NC_000023.11:77688886:T:C p.(Gly175=) NC_000023.11:77688886:T:C p.(Gly175=) NC_000023.11:77688886:T:C Identity +NM_001081676.2:c.4764A>G NP_001075145.1:p.Gly1588= NC_000002.12:165091241:T:C p.(Gly1588=) NC_000002.12:165091241:T:C p.(Gly1588=) NC_000002.12:165091241:T:C Identity +NM_000540.3:c.6642C>T NP_000531.2:p.Val2214= NC_000019.10:38496307:C:T p.(Val2214=) NC_000019.10:38496307:C:T p.(Val2214=) NC_000019.10:38496307:C:T Identity +NM_006158.5:c.54C>T NP_006149.2:p.Tyr18= NC_000008.11:24956461:G:A p.(Tyr18=) NC_000008.11:24956461:G:A p.(Tyr18=) NC_000008.11:24956461:G:A Identity +NM_001322194.2:c.759G>A NP_001309123.1:p.Lys253= NC_000009.12:5054706:G:A p.(Lys253=) NC_000009.12:5054706:G:A p.(Lys253=) NC_000009.12:5054706:G:A Identity +NM_001170629.2:c.6084C>T NP_001164100.1:p.His2028= NC_000014.9:21393710:G:A p.(His2028=) NC_000014.9:21393710:G:A p.(His2028=) NC_000014.9:21393710:G:A Identity +NM_001270523.2:c.183G>A NP_001257452.1:p.Arg61= NC_000014.9:56804253:C:T p.(Arg61=) NC_000014.9:56804253:C:T p.(Arg61=) NC_000014.9:56804253:C:T Identity +NM_001304438.2:c.1908T>C NP_001291367.1:p.Asp636= NC_000017.11:34635017:T:C p.(Asp636=) NC_000017.11:34635017:T:C p.(Asp636=) NC_000017.11:34635017:T:C Identity +NM_001256849.1:c.1947C>T NP_001243778.1:p.Thr649= NC_000019.10:50409175:C:T p.(Thr649=) NC_000019.10:50409175:C:T p.(Thr649=) NC_000019.10:50409175:C:T Identity +NM_001142281.2:c.279A>C NP_001135753.1:p.Pro93= NC_000011.10:118583903:A:C p.(Pro93=) NC_000011.10:118583903:A:C p.(Pro93=) NC_000011.10:118583903:A:C Identity +NM_000540.3:c.852C>T NP_000531.2:p.Val284= NC_000019.10:38448405:C:T p.(Val284=) NC_000019.10:38448405:C:T p.(Val284=) NC_000019.10:38448405:C:T Identity +NM_000135.4:c.4314C>T NP_000126.2:p.Ser1438= NC_000016.10:89738654:G:A p.(Ser1438=) NC_000016.10:89738654:G:A p.(Ser1438=) NC_000016.10:89738654:G:A Identity +NM_001042537.2:c.615T>C NP_001036002.1:p.Phe205= NC_000023.11:135998492:T:C p.(Phe205=) NC_000023.11:135998492:T:C p.(Phe205=) NC_000023.11:135998492:T:C Identity +NM_001278939.2:c.1425G>A NP_001265868.1:p.Pro475= NC_000007.14:74057448:G:A p.(Pro475=) NC_000007.14:74057448:G:A p.(Pro475=) NC_000007.14:74057448:G:A Identity +NM_001080463.2:c.5610G>A NP_001073932.1:p.Lys1870= NC_000011.10:103174105:G:A p.(Lys1870=) NC_000011.10:103174105:G:A p.(Lys1870=) NC_000011.10:103174105:G:A Identity +NM_000136.3:c.387A>G NP_000127.2:p.Lys129= NC_000009.12:95172105:T:C p.(Lys129=) NC_000009.12:95172105:T:C p.(Lys129=) NC_000009.12:95172105:T:C Identity +NM_001113378.2:c.1998T>C NP_001106849.1:p.Tyr666= NC_000015.10:89292692:T:C p.(Tyr666=) NC_000015.10:89292692:T:C p.(Tyr666=) NC_000015.10:89292692:T:C Identity +NM_000047.3:c.1443G>A NP_000038.2:p.Thr481= NC_000023.11:2935158:C:T p.(Thr481=) NC_000023.11:2935158:C:T p.(Thr481=) NC_000023.11:2935158:C:T Identity +NM_001291285.3:c.14001C>T NP_001278214.1:p.Pro4667= NC_000004.12:125490819:C:T p.(Pro4667=) NC_000004.12:125490819:C:T p.(Pro4667=) NC_000004.12:125490819:C:T Identity +NM_003227.4:c.7C>A NP_003218.2:p.Arg3= NC_000007.14:100641502:G:T p.(Arg3=) NC_000007.14:100641502:G:T p.(Arg3=) NC_000007.14:100641502:G:T Identity +NM_001122670.2:c.2697A>G NP_001116142.1:p.Val899= NC_000023.11:72605388:T:C p.(Val899=) NC_000023.11:72605388:T:C p.(Val899=) NC_000023.11:72605388:T:C Identity +NM_001126105.3:c.447G>C NP_001119577.1:p.Pro149= NC_000014.9:22812951:C:G p.(Pro149=) NC_000014.9:22812951:C:G p.(Pro149=) NC_000014.9:22812951:C:G Identity +NM_000254.3:c.1497T>C NP_000245.2:p.Ala499= NC_000001.11:236838580:T:C p.(Ala499=) NC_000001.11:236838580:T:C p.(Ala499=) NC_000001.11:236838580:T:C Identity +NM_000537.4:c.507G>A NP_000528.1:p.Thr169= NC_000001.11:204159580:C:T p.(Thr169=) NC_000001.11:204159580:C:T p.(Thr169=) NC_000001.11:204159580:C:T Identity +NM_001289164.3:c.606G>A NP_001276093.1:p.Glu202= NC_000002.12:74536342:C:T p.(Glu202=) NC_000002.12:74536342:C:T p.(Glu202=) NC_000002.12:74536342:C:T Identity +NM_001411101.1:c.123C>T NP_001398030.1:p.Gly41= NC_000017.11:82752315:C:T p.(Gly41=) NC_000017.11:82752315:C:T p.(Gly41=) NC_000017.11:82752315:C:T Identity +NM_001122633.3:c.4470C>T NP_001116105.2:p.His1490= NC_000002.12:210677951:C:T p.(His1490=) NC_000002.12:210677951:C:T p.(His1490=) NC_000002.12:210677951:C:T Identity +NM_016239.4:c.2904G>C NP_057323.3:p.Leu968= NC_000017.11:18121703:G:C p.(Leu968=) NC_000017.11:18121703:G:C p.(Leu968=) NC_000017.11:18121703:G:C Identity +NM_003068.5:c.408C>T NP_003059.1:p.Thr136= NC_000008.11:48920112:G:A p.(Thr136=) NC_000008.11:48920112:G:A p.(Thr136=) NC_000008.11:48920112:G:A Identity +NM_001080463.2:c.651A>G NP_001073932.1:p.Leu217= NC_000011.10:103116598:A:G p.(Leu217=) NC_000011.10:103116598:A:G p.(Leu217=) NC_000011.10:103116598:A:G Identity +NM_001165979.2:c.1623C>T NP_001159451.1:p.Tyr541= NC_000010.11:94246071:C:T p.(Tyr541=) NC_000010.11:94246071:C:T p.(Tyr541=) NC_000010.11:94246071:C:T Identity +NM_001122769.3:c.726A>G NP_001116241.1:p.Leu242= NC_000006.12:79493744:T:C p.(Leu242=) NC_000006.12:79493744:T:C p.(Leu242=) NC_000006.12:79493744:T:C Identity +NM_018475.5:c.831C>T NP_060945.2:p.His277= NC_000004.12:55424575:C:T p.(His277=) NC_000004.12:55424575:C:T p.(His277=) NC_000004.12:55424575:C:T Identity +NM_001174089.2:c.306G>A NP_001167560.1:p.Lys102= NC_000020.11:3234299:C:T p.(Lys102=) NC_000020.11:3234299:C:T p.(Lys102=) NC_000020.11:3234299:C:T Identity +NM_000092.5:c.501G>A NP_000083.3:p.Gly167= NC_000002.12:227114684:C:T p.(Gly167=) NC_000002.12:227114684:C:T p.(Gly167=) NC_000002.12:227114684:C:T Identity +NM_152594.3:c.531C>G NP_689807.1:p.Pro177= NC_000015.10:38339843:C:G p.(Pro177=) NC_000015.10:38339843:C:G p.(Pro177=) NC_000015.10:38339843:C:G Identity +NM_207118.3:c.12C>T NP_997001.1:p.Val4= NC_000006.12:158170514:C:T p.(Val4=) NC_000006.12:158170514:C:T p.(Val4=) NC_000006.12:158170514:C:T Identity +NM_000190.4:c.858C>T NP_000181.2:p.Asp286= NC_000011.10:119092966:C:T p.(Asp286=) NC_000011.10:119092966:C:T p.(Asp286=) NC_000011.10:119092966:C:T Identity +NM_001142966.3:c.4494C>T NP_001136438.1:p.His1498= NC_000018.10:21508242:C:T p.(His1498=) NC_000018.10:21508242:C:T p.(His1498=) NC_000018.10:21508242:C:T Identity +NM_000509.6:c.1035T>C NP_000500.2:p.Asn345= NC_000004.12:154606798:A:G p.(Asn345=) NC_000004.12:154606798:A:G p.(Asn345=) NC_000004.12:154606798:A:G Identity +NM_174916.3:c.4281T>C NP_777576.1:p.Ser1427= NC_000015.10:42976804:A:G p.(Ser1427=) NC_000015.10:42976804:A:G p.(Ser1427=) NC_000015.10:42976804:A:G Identity +NM_016239.4:c.6711G>A NP_057323.3:p.Pro2237= NC_000017.11:18148514:G:A p.(Pro2237=) NC_000017.11:18148514:G:A p.(Pro2237=) NC_000017.11:18148514:G:A Identity +NM_001142966.3:c.3954G>A NP_001136438.1:p.Leu1318= NC_000018.10:21500290:G:A p.(Leu1318=) NC_000018.10:21500290:G:A p.(Leu1318=) NC_000018.10:21500290:G:A Identity +NM_000346.4:c.441C>T NP_000337.1:p.Asn147= NC_000017.11:72122727:C:T p.(Asn147=) NC_000017.11:72122727:C:T p.(Asn147=) NC_000017.11:72122727:C:T Identity +NM_000299.4:c.1437G>A NP_000290.2:p.Leu479= NC_000001.11:201322003:G:A p.(Leu479=) NC_000001.11:201322003:G:A p.(Leu479=) NC_000001.11:201322003:G:A Identity +NM_000210.4:c.3018T>C NP_000201.2:p.Thr1006= NC_000002.12:172498003:T:C p.(Thr1006=) NC_000002.12:172498003:T:C p.(Thr1006=) NC_000002.12:172498003:T:C Identity +NM_025074.7:c.9117C>T NP_079350.5:p.Ala3039= NC_000004.12:78499721:C:T p.(Ala3039=) NC_000004.12:78499721:C:T p.(Ala3039=) NC_000004.12:78499721:C:T Identity +NM_001098268.2:c.1305A>G NP_001091738.1:p.Leu435= NC_000013.11:108209963:T:C p.(Leu435=) NC_000013.11:108209963:T:C p.(Leu435=) NC_000013.11:108209963:T:C Identity +NM_007230.1:c.861C>T NP_009161.1:p.Asp287= NC_000009.12:137101056:C:T ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_001128617.3:c.348T>C NP_001122089.1:p.Tyr116= NC_000006.12:138945626:A:G p.(Tyr116=) NC_000006.12:138945626:A:G p.(Tyr116=) NC_000006.12:138945626:A:G Identity +NM_001318381.2:c.2670A>C NP_001305310.1:p.Pro890= NC_000009.12:100297087:A:C p.(Pro890=) NC_000009.12:100297087:A:C p.(Pro890=) NC_000009.12:100297087:A:C Identity +NM_016239.4:c.525G>A NP_057323.3:p.Pro175= NC_000017.11:18119324:G:A p.(Pro175=) NC_000017.11:18119324:G:A p.(Pro175=) NC_000017.11:18119324:G:A Identity +NM_000395.3:c.1917G>T NP_000386.1:p.Leu639= NC_000022.11:36937724:G:T p.(Leu639=) NC_000022.11:36937724:G:T p.(Leu639=) NC_000022.11:36937724:G:T Identity +NM_170606.3:c.4548C>T NP_733751.2:p.Gly1516= NC_000007.14:152194120:G:A p.(Gly1516=) NC_000007.14:152194120:G:A p.(Gly1516=) NC_000007.14:152194120:G:A Identity +NM_032119.4:c.17521A>C NP_115495.3:p.Arg5841= NC_000005.10:90854127:A:C p.(Arg5841=) NC_000005.10:90854127:A:C p.(Arg5841=) NC_000005.10:90854127:A:C Identity +NM_000747.3:c.312G>A NP_000738.2:p.Thr104= NC_000017.11:7446900:G:A p.(Thr104=) NC_000017.11:7446900:G:A p.(Thr104=) NC_000017.11:7446900:G:A Identity +NM_001041.4:c.2331G>A NP_001032.2:p.Arg777= NC_000003.12:165037994:C:T p.(Arg777=) NC_000003.12:165037994:C:T p.(Arg777=) NC_000003.12:165037994:C:T Identity +NM_030957.4:c.1371C>G NP_112219.3:p.Pro457= NC_000019.10:8595869:G:C p.(Pro457=) NC_000019.10:8595869:G:C p.(Pro457=) NC_000019.10:8595869:G:C Identity +NM_001207055.2:c.1866C>T NP_001193984.1:p.Pro622= NC_000020.11:32801332:C:T p.(Pro622=) NC_000020.11:32801332:C:T p.(Pro622=) NC_000020.11:32801332:C:T Identity +NM_000540.3:c.2925G>A NP_000531.2:p.Arg975= NC_000019.10:38466144:G:A p.(Arg975=) NC_000019.10:38466144:G:A p.(Arg975=) NC_000019.10:38466144:G:A Identity +NM_019888.3:c.360C>T NP_063941.3:p.Phe120= NC_000020.11:56249202:C:T p.(Phe120=) NC_000020.11:56249202:C:T p.(Phe120=) NC_000020.11:56249202:C:T Identity +NM_000178.4:c.201T>C NP_000169.1:p.Ala67= NC_000020.11:34946026:A:G p.(Ala67=) NC_000020.11:34946026:A:G p.(Ala67=) NC_000020.11:34946026:A:G Identity +NM_001122633.3:c.1110C>T NP_001116105.2:p.Pro370= NC_000002.12:210592901:C:T p.(Pro370=) NC_000002.12:210592901:C:T p.(Pro370=) NC_000002.12:210592901:C:T Identity +NM_016239.4:c.9798G>A NP_057323.3:p.Val3266= NC_000017.11:18166370:G:A p.(Val3266=) NC_000017.11:18166370:G:A p.(Val3266=) NC_000017.11:18166370:G:A Identity +NM_014967.5:c.1836G>T NP_055782.3:p.Leu612= NC_000015.10:30918187:G:T p.(Leu612=) NC_000015.10:30918187:G:T p.(Leu612=) NC_000015.10:30918187:G:T Identity +NM_001372.4:c.45G>A NP_001363.2:p.Ala15= NC_000017.11:11598542:G:A p.(Ala15=) NC_000017.11:11598542:G:A p.(Ala15=) NC_000017.11:11598542:G:A Identity +NM_001244580.2:c.648G>A NP_001231509.1:p.Pro216= NC_000007.14:98899435:G:A p.(Pro216=) NC_000007.14:98899435:G:A p.(Pro216=) NC_000007.14:98899435:G:A Identity +NM_001364858.1:c.552G>T NP_001351787.1:p.Pro184= NC_000007.14:4785571:G:T p.(Pro184=) NC_000007.14:4785571:G:T p.(Pro184=) NC_000007.14:4785571:G:T Identity +NM_001126131.2:c.276G>A NP_001119603.1:p.Gly92= NC_000015.10:89333478:C:T p.(Gly92=) NC_000015.10:89333478:C:T p.(Gly92=) NC_000015.10:89333478:C:T Identity +NM_000540.3:c.2199G>A NP_000531.2:p.Gly733= NC_000019.10:38459176:G:A p.(Gly733=) NC_000019.10:38459176:G:A p.(Gly733=) NC_000019.10:38459176:G:A Identity +NM_001269039.3:c.408G>A NP_001255968.1:p.Gln136= NC_000010.11:110964765:G:A p.(Gln136=) NC_000010.11:110964765:G:A p.(Gln136=) NC_000010.11:110964765:G:A Identity +NM_005094.4:c.1644C>T NP_005085.2:p.Ala548= NC_000009.12:128355665:C:T p.(Ala548=) NC_000009.12:128355665:C:T p.(Ala548=) NC_000009.12:128355665:C:T Identity +NM_016239.4:c.1932G>A NP_057323.3:p.Pro644= NC_000017.11:18120731:G:A p.(Pro644=) NC_000017.11:18120731:G:A p.(Pro644=) NC_000017.11:18120731:G:A Identity +NM_001363466.2:c.21G>C NP_001350395.1:p.Gly7= NC_000007.14:22991090:C:G p.(Gly7=) NC_000007.14:22991090:C:G p.(Gly7=) NC_000007.14:22991090:C:G Identity +NM_001018088.3:c.8781A>G NP_001018098.1:p.Gly2927= NC_000015.10:61910239:T:C p.(Gly2927=) NC_000015.10:61910239:T:C p.(Gly2927=) NC_000015.10:61910239:T:C Identity +NM_001081.4:c.5931T>C NP_001072.2:p.Ala1977= NC_000010.11:16933279:A:G p.(Ala1977=) NC_000010.11:16933279:A:G p.(Ala1977=) NC_000010.11:16933279:A:G Identity +NM_000456.3:c.87C>G NP_000447.2:p.Ala29= NC_000012.12:56002578:C:G p.(Ala29=) NC_000012.12:56002578:C:G p.(Ala29=) NC_000012.12:56002578:C:G Identity +NM_000452.3:c.390C>T NP_000443.2:p.Thr130= NC_000013.11:103058369:G:A p.(Thr130=) NC_000013.11:103058369:G:A p.(Thr130=) NC_000013.11:103058369:G:A Identity +NM_000215.4:c.246C>T NP_000206.2:p.Phe82= NC_000019.10:17843838:G:A p.(Phe82=) NC_000019.10:17843838:G:A p.(Phe82=) NC_000019.10:17843838:G:A Identity +NM_022454.4:c.471C>T NP_071899.1:p.His157= NC_000008.11:54459220:C:T p.(His157=) NC_000008.11:54459220:C:T p.(His157=) NC_000008.11:54459220:C:T Identity +NM_006516.4:c.717T>C NP_006507.2:p.His239= NC_000001.11:42929742:A:G p.(His239=) NC_000001.11:42929742:A:G p.(His239=) NC_000001.11:42929742:A:G Identity +NM_001286577.2:c.5796A>G NP_001273506.1:p.Pro1932= NC_000011.10:74037562:T:C p.(Pro1932=) NC_000011.10:74037562:T:C p.(Pro1932=) NC_000011.10:74037562:T:C Identity +NM_032888.4:c.1164C>T NP_116277.2:p.Thr388= NC_000009.12:114168718:C:T p.(Thr388=) NC_000009.12:114168718:C:T p.(Thr388=) NC_000009.12:114168718:C:T Identity +NM_001042681.2:c.1378A>C NP_001036146.1:p.Arg460= NC_000001.11:8365880:T:G p.(Arg460=) NC_000001.11:8365880:T:G p.(Arg460=) NC_000001.11:8365880:T:G Identity +NM_001288951.2:c.828T>G NP_001275880.1:p.Thr276= NC_000002.12:46993512:T:G p.(Thr276=) NC_000002.12:46993512:T:G p.(Thr276=) NC_000002.12:46993512:T:G Identity +NM_000369.5:c.1803T>C NP_000360.2:p.Tyr601= NC_000014.9:81143860:T:C p.(Tyr601=) NC_000014.9:81143860:T:C p.(Tyr601=) NC_000014.9:81143860:T:C Identity +NM_001353229.2:c.93A>G NP_001340158.1:p.Gln31= NC_000017.11:17228044:T:C p.(Gln31=) NC_000017.11:17228044:T:C p.(Gln31=) NC_000017.11:17228044:T:C Identity +NM_000294.3:c.18G>T NP_000285.1:p.Gly6= NC_000016.10:30748837:G:T p.(Gly6=) NC_000016.10:30748837:G:T p.(Gly6=) NC_000016.10:30748837:G:T Identity +NM_001352603.1:c.663G>A NP_001339532.1:p.Leu221= NC_000013.11:108210605:C:T p.(Leu221=) NC_000013.11:108210605:C:T p.(Leu221=) NC_000013.11:108210605:C:T Identity +NM_000215.4:c.1275T>C NP_000206.2:p.Tyr425= NC_000019.10:17839642:A:G p.(Tyr425=) NC_000019.10:17839642:A:G p.(Tyr425=) NC_000019.10:17839642:A:G Identity +NM_001410875.1:c.558C>A NP_001397804.1:p.Pro186= NC_000006.12:33305298:G:T p.(Pro186=) NC_000006.12:33305298:G:T p.(Pro186=) NC_000006.12:33305298:G:T Identity +NM_001282660.2:c.1938C>T NP_001269589.1:p.Gly646= NC_000022.11:40418499:G:A p.(Gly646=) NC_000022.11:40418499:G:A p.(Gly646=) NC_000022.11:40418499:G:A Identity +NM_032802.4:c.492G>C NP_116191.2:p.Ser164= NC_000015.10:50747586:C:G p.(Ser164=) NC_000015.10:50747586:C:G p.(Ser164=) NC_000015.10:50747586:C:G Identity +NM_000403.4:c.805C>T NP_000394.2:p.Leu269= NC_000001.11:23796576:G:A p.(Leu269=) NC_000001.11:23796576:G:A p.(Leu269=) NC_000001.11:23796576:G:A Identity +NM_003482.4:c.7491C>T NP_003473.3:p.Ala2497= NC_000012.12:49040278:G:A p.(Ala2497=) NC_000012.12:49040278:G:A p.(Ala2497=) NC_000012.12:49040278:G:A Identity +NM_001177310.2:c.2760C>T NP_001170781.1:p.Phe920= NC_000009.12:74786017:G:A p.(Phe920=) NC_000009.12:74786017:G:A p.(Phe920=) NC_000009.12:74786017:G:A Identity +NM_016239.4:c.3306G>A NP_057323.3:p.Lys1102= NC_000017.11:18122105:G:A p.(Lys1102=) NC_000017.11:18122105:G:A p.(Lys1102=) NC_000017.11:18122105:G:A Identity +NM_015657.4:c.4254G>A NP_056472.2:p.Arg1418= NC_000002.12:214975957:C:T p.(Arg1418=) NC_000002.12:214975957:C:T p.(Arg1418=) NC_000002.12:214975957:C:T Identity +NM_016580.4:c.1059C>T NP_057664.1:p.His353= NC_000005.10:141956792:G:A p.(His353=) NC_000005.10:141956792:G:A p.(His353=) NC_000005.10:141956792:G:A Identity +NM_005560.6:c.2688C>T NP_005551.3:p.Leu896= NC_000020.11:62334236:G:A p.(Leu896=) NC_000020.11:62334236:G:A p.(Leu896=) NC_000020.11:62334236:G:A Identity +NM_001005498.4:c.2352C>T NP_001005498.2:p.Ala784= NC_000017.11:76471764:G:A p.(Ala784=) NC_000017.11:76471764:G:A p.(Ala784=) NC_000017.11:76471764:G:A Identity +NM_001019.5:c.240C>T NP_001010.2:p.Asp80= NC_000016.10:18784796:G:A p.(Asp80=) NC_000016.10:18784796:G:A p.(Asp80=) NC_000016.10:18784796:G:A Identity +NM_001207055.2:c.801T>C NP_001193984.1:p.Ala267= NC_000020.11:32792630:T:C p.(Ala267=) NC_000020.11:32792630:T:C p.(Ala267=) NC_000020.11:32792630:T:C Identity +NM_003235.5:c.7668C>T NP_003226.4:p.Val2556= NC_000008.11:133113516:C:T p.(Val2556=) NC_000008.11:133113516:C:T p.(Val2556=) NC_000008.11:133113516:C:T Identity +NM_001130144.3:c.2337C>T NP_001123616.1:p.Asp779= NC_000011.10:65546457:G:A p.(Asp779=) NC_000011.10:65546457:G:A p.(Asp779=) NC_000011.10:65546457:G:A Identity +NM_001256007.3:c.471G>A NP_001242936.1:p.Leu157= NC_000007.14:108515020:C:T p.(Leu157=) NC_000007.14:108515020:C:T p.(Leu157=) NC_000007.14:108515020:C:T Identity +NM_001313858.1:c.418C>T NP_001300787.1:p.Leu140= NC_000016.10:18793358:G:A p.(Leu140=) NC_000016.10:18793358:G:A p.(Leu140=) NC_000016.10:18793358:G:A Identity +NM_012213.3:c.129G>T NP_036345.2:p.Leu43= NC_000016.10:83899272:G:T p.(Leu43=) NC_000016.10:83899272:G:T p.(Leu43=) NC_000016.10:83899272:G:T Identity +NM_001166133.2:c.642G>A NP_001159605.1:p.Pro214= NC_000004.12:78265062:G:A p.(Pro214=) NC_000004.12:78265062:G:A p.(Pro214=) NC_000004.12:78265062:G:A Identity +NM_001411065.1:c.729G>A NP_001397994.1:p.Arg243= NC_000015.10:66485168:G:A p.(Arg243=) NC_000015.10:66485168:G:A p.(Arg243=) NC_000015.10:66485168:G:A Identity +NM_006031.6:c.183C>T NP_006022.3:p.Ser61= NC_000021.9:46326504:C:T p.(Ser61=) NC_000021.9:46326504:C:T p.(Ser61=) NC_000021.9:46326504:C:T Identity +NM_016239.4:c.8418C>T NP_057323.3:p.Gly2806= NC_000017.11:18155390:C:T p.(Gly2806=) NC_000017.11:18155390:C:T p.(Gly2806=) NC_000017.11:18155390:C:T Identity +NM_025074.7:c.9723C>T NP_079350.5:p.Ala3241= NC_000004.12:78508948:C:T p.(Ala3241=) NC_000004.12:78508948:C:T p.(Ala3241=) NC_000004.12:78508948:C:T Identity +NM_001261406.2:c.1936C>T NP_001248335.1:p.Leu646= NC_000009.12:13192162:G:A p.(Leu646=) NC_000009.12:13192162:G:A p.(Leu646=) NC_000009.12:13192162:G:A Identity +NM_005027.4:c.1410C>T NP_005018.2:p.Thr470= NC_000019.10:18163381:C:T p.(Thr470=) NC_000019.10:18163381:C:T p.(Thr470=) NC_000019.10:18163381:C:T Identity +NM_052876.4:c.1344C>T NP_443108.1:p.Ala448= NC_000019.10:13138165:C:T p.(Ala448=) NC_000019.10:13138165:C:T p.(Ala448=) NC_000019.10:13138165:C:T Identity +NM_001197104.2:c.8013C>G NP_001184033.1:p.Ala2671= NC_000011.10:118503904:C:G p.(Ala2671=) NC_000011.10:118503904:C:G p.(Ala2671=) NC_000011.10:118503904:C:G Identity +NM_001042440.5:c.888G>A NP_001035905.1:p.Glu296= NC_000005.10:96741357:G:A p.(Glu296=) NC_000005.10:96741357:G:A p.(Glu296=) NC_000005.10:96741357:G:A Identity +NM_001167594.3:c.678A>G NP_001161066.2:p.Gln226= NC_000020.11:45894023:A:G p.(Gln226=) NC_000020.11:45894023:A:G p.(Gln226=) NC_000020.11:45894023:A:G Identity +NM_001130455.2:c.360G>A NP_001123927.1:p.Leu120= NC_000002.12:71511820:G:A p.(Leu120=) NC_000002.12:71511820:G:A p.(Leu120=) NC_000002.12:71511820:G:A Identity +NM_001044.5:c.1104G>A NP_001035.1:p.Leu368= NC_000005.10:1414742:C:T p.(Leu368=) NC_000005.10:1414742:C:T p.(Leu368=) NC_000005.10:1414742:C:T Identity +NM_000151.4:c.1020C>T NP_000142.2:p.Val340= NC_000017.11:42911371:C:T p.(Val340=) NC_000017.11:42911371:C:T p.(Val340=) NC_000017.11:42911371:C:T Identity +NM_000553.6:c.2676A>G NP_000544.2:p.Lys892= NC_000008.11:31124566:A:G p.(Lys892=) NC_000008.11:31124566:A:G p.(Lys892=) NC_000008.11:31124566:A:G Identity +NM_000494.4:c.3144C>T NP_000485.3:p.Thr1048= NC_000010.11:104037699:G:A p.(Thr1048=) NC_000010.11:104037699:G:A p.(Thr1048=) NC_000010.11:104037699:G:A Identity +NM_001424108.1:c.2733C>A NP_001411037.1:p.Pro911= NC_000006.12:33172363:G:T p.(Pro911=) NC_000006.12:33172363:G:T p.(Pro911=) NC_000006.12:33172363:G:T Identity +NM_000392.5:c.3180G>A NP_000383.2:p.Leu1060= NC_000010.11:99832052:G:A p.(Leu1060=) NC_000010.11:99832052:G:A p.(Leu1060=) NC_000010.11:99832052:G:A Identity +NM_000781.3:c.957C>T NP_000772.2:p.Asn319= NC_000015.10:74343009:G:A p.(Asn319=) NC_000015.10:74343009:G:A p.(Asn319=) NC_000015.10:74343009:G:A Identity +NM_001318245.2:c.2478C>G NP_001305174.1:p.Val826= NC_000022.11:25798053:C:G p.(Val826=) NC_000022.11:25798053:C:G p.(Val826=) NC_000022.11:25798053:C:G Identity +NM_001386339.1:c.3900A>C NP_001373268.1:p.Ala1300= NC_000011.10:9817013:T:G p.(Ala1300=) NC_000011.10:9817013:T:G p.(Ala1300=) NC_000011.10:9817013:T:G Identity +NM_000426.4:c.5556C>T NP_000417.3:p.Ile1852= NC_000006.12:129401333:C:T p.(Ile1852=) NC_000006.12:129401333:C:T p.(Ile1852=) NC_000006.12:129401333:C:T Identity +NM_001001329.3:c.36C>T NP_001001329.1:p.Cys12= NC_000019.10:11436152:C:T p.(Cys12=) NC_000019.10:11436152:C:T p.(Cys12=) NC_000019.10:11436152:C:T Identity +NM_001100913.3:c.1434T>C NP_001094383.2:p.Tyr478= NC_000014.9:105382496:T:C p.(Tyr478=) NC_000014.9:105382496:T:C p.(Tyr478=) NC_000014.9:105382496:T:C Identity +NM_001410705.1:c.5964G>A NP_001397634.1:p.Pro1988= NC_000023.11:153950417:C:T p.(Pro1988=) NC_000023.11:153950417:C:T p.(Pro1988=) NC_000023.11:153950417:C:T Identity +NM_001127713.1:c.126T>C NP_001121185.1:p.Asp42= NC_000014.9:50587921:T:C p.(Asp42=) NC_000014.9:50587921:T:C p.(Asp42=) NC_000014.9:50587921:T:C Identity +NM_181672.3:c.684T>C NP_858058.1:p.Tyr228= NC_000023.11:71554547:T:C p.(Tyr228=) NC_000023.11:71554547:T:C p.(Tyr228=) NC_000023.11:71554547:T:C Identity +NM_001005360.3:c.744C>T NP_001005360.1:p.Ile248= NC_000019.10:10783014:C:T p.(Ile248=) NC_000019.10:10783014:C:T p.(Ile248=) NC_000019.10:10783014:C:T Identity +NM_001130991.3:c.1005T>C NP_001124463.1:p.Asp335= NC_000011.10:119052411:A:G p.(Asp335=) NC_000011.10:119052411:A:G p.(Asp335=) NC_000011.10:119052411:A:G Identity +NM_000719.7:c.1659A>C NP_000710.5:p.Thr553= NC_000012.12:2566571:A:C p.(Thr553=) NC_000012.12:2566571:A:C p.(Thr553=) NC_000012.12:2566571:A:C Identity +NM_003052.5:c.1272G>A NP_003043.3:p.Ser424= NC_000005.10:177396829:G:A p.(Ser424=) NC_000005.10:177396829:G:A p.(Ser424=) NC_000005.10:177396829:G:A Identity +NM_001291285.3:c.14070C>T NP_001278214.1:p.His4690= NC_000004.12:125490888:C:T p.(His4690=) NC_000004.12:125490888:C:T p.(His4690=) NC_000004.12:125490888:C:T Identity +NM_000540.3:c.11166C>T NP_000531.2:p.Tyr3722= NC_000019.10:38532513:C:T p.(Tyr3722=) NC_000019.10:38532513:C:T p.(Tyr3722=) NC_000019.10:38532513:C:T Identity +NM_001270449.2:c.12G>C NP_001257378.1:p.Leu4= NC_000012.12:109483562:G:C p.(Leu4=) NC_000012.12:109483562:G:C p.(Leu4=) NC_000012.12:109483562:G:C Identity +NM_001130969.3:c.1212C>T NP_001124441.1:p.Ile404= NC_000009.12:137452388:G:A p.(Ile404=) NC_000009.12:137452388:G:A p.(Ile404=) NC_000009.12:137452388:G:A Identity +NM_005733.3:c.1044T>C NP_005724.1:p.His348= NC_000005.10:138183485:T:C p.(His348=) NC_000005.10:138183485:T:C p.(His348=) NC_000005.10:138183485:T:C Identity +NM_001080477.4:c.2172T>C NP_001073946.1:p.Asp724= NC_000004.12:182688301:T:C p.(Asp724=) NC_000004.12:182688301:T:C p.(Asp724=) NC_000004.12:182688301:T:C Identity +NM_001254740.2:c.615G>A NP_001241669.1:p.Gln205= NC_000015.10:65650782:G:A p.(Gln205=) NC_000015.10:65650782:G:A p.(Gln205=) NC_000015.10:65650782:G:A Identity +NM_000547.6:c.1062G>A NP_000538.3:p.Ala354= NC_000002.12:1477327:G:A p.(Ala354=) NC_000002.12:1477327:G:A p.(Ala354=) NC_000002.12:1477327:G:A Identity +NM_000215.4:c.450C>T NP_000206.2:p.Leu150= NC_000019.10:17843142:G:A p.(Leu150=) NC_000019.10:17843142:G:A p.(Leu150=) NC_000019.10:17843142:G:A Identity +NM_001271769.2:c.1200G>A NP_001258698.1:p.Leu400= NC_000005.10:78162834:C:T p.(Leu400=) NC_000005.10:78162834:C:T p.(Leu400=) NC_000005.10:78162834:C:T Identity +NM_001367624.2:c.5565T>C NP_001354553.1:p.Asn1855= NC_000016.10:88433034:T:C p.(Asn1855=) NC_000016.10:88433034:T:C p.(Asn1855=) NC_000016.10:88433034:T:C Identity +NM_003764.4:c.459G>A NP_003755.2:p.Gln153= NC_000006.12:144187085:G:A p.(Gln153=) NC_000006.12:144187085:G:A p.(Gln153=) NC_000006.12:144187085:G:A Identity +NM_001846.4:c.123G>A NP_001837.2:p.Pro41= NC_000013.11:110357494:G:A p.(Pro41=) NC_000013.11:110357494:G:A p.(Pro41=) NC_000013.11:110357494:G:A Identity +NM_000549.5:c.414C>G NP_000540.2:p.Val138= NC_000001.11:115034223:C:G p.(Val138=) NC_000001.11:115034223:C:G p.(Val138=) NC_000001.11:115034223:C:G Identity +NM_001142800.2:c.3789T>C NP_001136272.1:p.Ile1263= NC_000006.12:64593204:A:G p.(Ile1263=) NC_000006.12:64593204:A:G p.(Ile1263=) NC_000006.12:64593204:A:G Identity +NM_153603.4:c.882G>A NP_705831.1:p.Leu294= NC_000016.10:23424875:C:T p.(Leu294=) NC_000016.10:23424875:C:T p.(Leu294=) NC_000016.10:23424875:C:T Identity +NM_003680.4:c.1137G>A NP_003671.1:p.Glu379= NC_000001.11:32781050:C:T p.(Glu379=) NC_000001.11:32781050:C:T p.(Glu379=) NC_000001.11:32781050:C:T Identity +NM_001317163.2:c.4470A>G NP_001304092.1:p.Glu1490= NC_000009.12:120962722:T:C p.(Glu1490=) NC_000009.12:120962722:T:C p.(Glu1490=) NC_000009.12:120962722:T:C Identity +NM_007055.4:c.462C>T NP_008986.2:p.Asn154= NC_000010.11:78024998:G:A p.(Asn154=) NC_000010.11:78024998:G:A p.(Asn154=) NC_000010.11:78024998:G:A Identity +LRG_1046t1:c.1887C>G LRG_1046p1:p.Pro629= NC_000015.10:23645855:G:C ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found ERR:AlignmentMapper(tx_ac=LRG_1046t1, alt_ac=LRG_1046t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1046t1, alt_ac=LRG_1046t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found +NM_016239.4:c.8103G>A NP_057323.3:p.Lys2701= NC_000017.11:18154144:G:A p.(Lys2701=) NC_000017.11:18154144:G:A p.(Lys2701=) NC_000017.11:18154144:G:A Identity +LRG_609t1:c.984C>T LRG_609p1:p.His328= NC_000012.12:11869943:C:T ERR:Data provider error: ValueError: Transcript LRG_609t1 not found ERR:Data provider error: ValueError: Transcript LRG_609t1 not found ERR:AlignmentMapper(tx_ac=LRG_609t1, alt_ac=LRG_609t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_609t1, alt_ac=LRG_609t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_609t1 not found +NM_001289067.2:c.1647T>C NP_001275996.1:p.Ser549= NC_000010.11:94590432:T:C p.(Ser549=) NC_000010.11:94590432:T:C p.(Ser549=) NC_000010.11:94590432:T:C Identity +NM_170606.3:c.363C>T NP_733751.2:p.Val121= NC_000007.14:152330626:G:A p.(Val121=) NC_000007.14:152330626:G:A p.(Val121=) NC_000007.14:152330626:G:A Identity +NM_000721.4:c.336T>G NP_000712.2:p.Leu112= NC_000001.11:181510545:T:G p.(Leu112=) NC_000001.11:181510545:T:G p.(Leu112=) NC_000001.11:181510545:T:G Identity +NM_001572.5:c.1395G>A NP_001563.2:p.Thr465= NC_000011.10:612761:C:T p.(Thr465=) NC_000011.10:612761:C:T p.(Thr465=) NC_000011.10:612761:C:T Identity +NM_001362843.2:c.1761C>T NP_001349772.1:p.Leu587= NC_000022.11:41140139:C:T p.(Leu587=) NC_000022.11:41140139:C:T p.(Leu587=) NC_000022.11:41140139:C:T Identity +NM_001256182.2:c.3564A>C NP_001243111.1:p.Arg1188= NC_000016.10:89282977:T:G p.(Arg1188=) NC_000016.10:89282977:T:G p.(Arg1188=) NC_000016.10:89282977:T:G Identity +NM_001190274.2:c.1068A>G NP_001177203.1:p.Gln356= NC_000002.12:47832853:T:C p.(Gln356=) NC_000002.12:47832853:T:C p.(Gln356=) NC_000002.12:47832853:T:C Identity +NM_000443.4:c.2859C>T NP_000434.1:p.Ala953= NC_000007.14:87411957:G:A p.(Ala953=) NC_000007.14:87411957:G:A p.(Ala953=) NC_000007.14:87411957:G:A Identity +NM_015375.3:c.186T>C NP_056190.1:p.Thr62= NC_000001.11:205211349:A:G p.(Thr62=) NC_000001.11:205211349:A:G p.(Thr62=) NC_000001.11:205211349:A:G Identity +NM_001362949.2:c.45G>T NP_001349878.1:p.Ser15= NC_000022.11:33761431:C:A p.(Ser15=) NC_000022.11:33761431:C:A p.(Ser15=) NC_000022.11:33761431:C:A Identity +NM_000174.5:c.93C>T NP_000165.1:p.Thr31= NC_000003.12:129061831:C:T p.(Thr31=) NC_000003.12:129061831:C:T p.(Thr31=) NC_000003.12:129061831:C:T Identity +NM_001098268.2:c.1107A>T NP_001091738.1:p.Val369= NC_000013.11:108210161:T:A p.(Val369=) NC_000013.11:108210161:T:A p.(Val369=) NC_000013.11:108210161:T:A Identity +NM_000246.4:c.3126C>A NP_000237.2:p.Leu1042= NC_000016.10:10918502:C:A p.(Leu1042=) NC_000016.10:10918502:C:A p.(Leu1042=) NC_000016.10:10918502:C:A Identity +NM_001171933.1:c.3087C>T NP_001165404.1:p.Arg1029= NC_000010.11:71815019:C:T p.(Arg1029=) NC_000010.11:71815019:C:T p.(Arg1029=) NC_000010.11:71815019:C:T Identity +NM_001161482.1:c.1038C>T NP_001154954.1:p.Ala346= NC_000010.11:246852:C:T ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_001164317.2:c.3093A>G NP_001157789.1:p.Thr1031= NC_000003.12:58121469:A:G p.(Thr1031=) NC_000003.12:58121469:A:G p.(Thr1031=) NC_000003.12:58121469:A:G Identity +NM_001256468.2:c.2747_2748insGGAAGA NP_001243397.1:p.Glu921_Asn922insGluGlu NC_000010.11:75022150:GAAGA:GAAGAGGAAGA p.(Glu920_Glu921dup) NC_000010.11:75022154:A:GGAAGA p.(Glu920_Glu921dup) NC_000010.11:75022155:AA:GGAAGA Analogous +NM_001018088.3:c.3678C>A NP_001018098.1:p.Ala1226= NC_000015.10:61961818:G:T p.(Ala1226=) NC_000015.10:61961818:G:T p.(Ala1226=) NC_000015.10:61961818:G:T Identity +NM_022725.4:c.204A>G NP_073562.1:p.Gln68= NC_000011.10:22625606:T:C p.(Gln68=) NC_000011.10:22625606:T:C p.(Gln68=) NC_000011.10:22625606:T:C Identity +NM_013339.4:c.1137T>A NP_037471.2:p.Pro379= NC_000001.11:63428936:T:A p.(Pro379=) NC_000001.11:63428936:T:A p.(Pro379=) NC_000001.11:63428936:T:A Identity +NM_001042494.2:c.138A>G NP_001035959.1:p.Leu46= NC_000015.10:34275345:T:C p.(Leu46=) NC_000015.10:34275345:T:C p.(Leu46=) NC_000015.10:34275345:T:C Identity +NM_005876.5:c.3081A>G NP_005867.3:p.Leu1027= NC_000002.12:219467372:A:G p.(Leu1027=) NC_000002.12:219467372:A:G p.(Leu1027=) NC_000002.12:219467372:A:G Identity +NM_001126131.2:c.2400C>T NP_001119603.1:p.Phe800= NC_000015.10:89322767:G:A p.(Phe800=) NC_000015.10:89322767:G:A p.(Phe800=) NC_000015.10:89322767:G:A Identity +NM_001182.5:c.1548C>T NP_001173.2:p.Tyr516= NC_000005.10:126546340:G:A p.(Tyr516=) NC_000005.10:126546340:G:A p.(Tyr516=) NC_000005.10:126546340:G:A Identity +NM_000505.4:c.1329C>T NP_000496.2:p.Ala443= NC_000005.10:177403538:G:A p.(Ala443=) NC_000005.10:177403538:G:A p.(Ala443=) NC_000005.10:177403538:G:A Identity +NM_001014431.2:c.600C>T NP_001014431.1:p.Arg200= NC_000014.9:104774970:G:A p.(Arg200=) NC_000014.9:104774970:G:A p.(Arg200=) NC_000014.9:104774970:G:A Identity +NM_015384.5:c.879A>G NP_056199.2:p.Pro293= NC_000005.10:36975785:A:G p.(Pro293=) NC_000005.10:36975785:A:G p.(Pro293=) NC_000005.10:36975785:A:G Identity +NM_001025356.3:c.2124C>G NP_001020527.2:p.Thr708= NC_000012.12:45416810:C:G p.(Thr708=) NC_000012.12:45416810:C:G p.(Thr708=) NC_000012.12:45416810:C:G Identity +NM_000222.3:c.963T>C NP_000213.1:p.Thr321= NC_000004.12:54707134:T:C p.(Thr321=) NC_000004.12:54707134:T:C p.(Thr321=) NC_000004.12:54707134:T:C Identity +NM_020435.4:c.51C>T NP_065168.2:p.His17= NC_000001.11:228157808:C:T p.(His17=) NC_000001.11:228157808:C:T p.(His17=) NC_000001.11:228157808:C:T Identity +NM_001291088.2:c.3726T>C NP_001278017.1:p.Asn1242= NC_000019.10:37889944:A:G p.(Asn1242=) NC_000019.10:37889944:A:G p.(Asn1242=) NC_000019.10:37889944:A:G Identity +NM_013339.4:c.546T>G NP_037471.2:p.Ser182= NC_000001.11:63411196:T:G p.(Ser182=) NC_000001.11:63411196:T:G p.(Ser182=) NC_000001.11:63411196:T:G Identity +NM_006302.3:c.273C>T NP_006293.2:p.Ala91= NC_000002.12:74464974:G:A p.(Ala91=) NC_000002.12:74464974:G:A p.(Ala91=) NC_000002.12:74464974:G:A Identity +NM_174889.5:c.501C>T NP_777549.1:p.His167= NC_000005.10:61152945:C:T p.(His167=) NC_000005.10:61152945:C:T p.(His167=) NC_000005.10:61152945:C:T Identity +NM_001362949.2:c.1566G>A NP_001349878.1:p.Val522= NC_000022.11:33304392:C:T p.(Val522=) NC_000022.11:33304392:C:T p.(Val522=) NC_000022.11:33304392:C:T Identity +NM_000528.4:c.543C>T NP_000519.2:p.Asp181= NC_000019.10:12664878:G:A p.(Asp181=) NC_000019.10:12664878:G:A p.(Asp181=) NC_000019.10:12664878:G:A Identity +NM_001849.4:c.2916C>T NP_001840.3:p.Thr972= NC_000021.9:46132407:C:T p.(Thr972=) NC_000021.9:46132407:C:T p.(Thr972=) NC_000021.9:46132407:C:T Identity +NM_001362949.2:c.2271G>A NP_001349878.1:p.Ter757= NC_000022.11:33274426:C:T p.(Ter757=) NC_000022.11:33274426:C:T p.(Ter757Ter) NC_000022.11:33274426:C:T Identity +NM_001068.3:c.3384C>T NP_001059.2:p.Ser1128= NC_000003.12:25615538:G:A p.(Ser1128=) NC_000003.12:25615538:G:A p.(Ser1128=) NC_000003.12:25615538:G:A Identity +NM_000104.4:c.1362G>A NP_000095.2:p.Lys454= NC_000002.12:38070991:C:T p.(Lys454=) NC_000002.12:38070991:C:T p.(Lys454=) NC_000002.12:38070991:C:T Identity +NM_000434.4:c.966T>C NP_000425.1:p.Ala322= NC_000006.12:31860096:A:G p.(Ala322=) NC_000006.12:31860096:A:G p.(Ala322=) NC_000006.12:31860096:A:G Identity +NM_006088.6:c.18C>T NP_006079.1:p.His6= NC_000009.12:137241377:C:T p.(His6=) NC_000009.12:137241377:C:T p.(His6=) NC_000009.12:137241377:C:T Identity +NM_001281737.2:c.264G>A NP_001268666.1:p.Gly88= NC_000004.12:158682423:G:A p.(Gly88=) NC_000004.12:158682423:G:A p.(Gly88=) NC_000004.12:158682423:G:A Identity +NM_015102.5:c.975C>G NP_055917.1:p.Val325= NC_000001.11:5948086:G:C p.(Val325=) NC_000001.11:5948086:G:C p.(Val325=) NC_000001.11:5948086:G:C Identity +NM_001411138.1:c.795C>T NP_001398067.1:p.Arg265= NC_000019.10:13918115:C:T p.(Arg265=) NC_000019.10:13918115:C:T p.(Arg265=) NC_000019.10:13918115:C:T Identity +NM_001099679.2:c.510G>A NP_001093149.1:p.Leu170= NC_000009.12:116698251:G:A p.(Leu170=) NC_000009.12:116698251:G:A p.(Leu170=) NC_000009.12:116698251:G:A Identity +NM_001279353.2:c.294A>G NP_001266282.1:p.Glu98= NC_000001.11:150077700:A:G p.(Glu98=) NC_000001.11:150077700:A:G p.(Glu98=) NC_000001.11:150077700:A:G Identity +NM_001160227.2:c.2121C>T NP_001153699.1:p.Phe707= NC_000015.10:44626453:G:A p.(Phe707=) NC_000015.10:44626453:G:A p.(Phe707=) NC_000015.10:44626453:G:A Identity +NM_000425.5:c.2574G>A NP_000416.1:p.Gln858= NC_000023.11:153865473:C:T p.(Gln858=) NC_000023.11:153865473:C:T p.(Gln858=) NC_000023.11:153865473:C:T Identity +NM_000135.4:c.2464C>T NP_000126.2:p.Leu822= NC_000016.10:89769876:G:A p.(Leu822=) NC_000016.10:89769876:G:A p.(Leu822=) NC_000016.10:89769876:G:A Identity +NM_001376.5:c.7842C>T NP_001367.2:p.Asp2614= NC_000014.9:102016992:C:T p.(Asp2614=) NC_000014.9:102016992:C:T p.(Asp2614=) NC_000014.9:102016992:C:T Identity +NM_000036.3:c.1662G>A NP_000027.3:p.Val554= NC_000001.11:114675546:C:T p.(Val554=) NC_000001.11:114675546:C:T p.(Val554=) NC_000001.11:114675546:C:T Identity +NM_007230.1:c.1236C>T NP_009161.1:p.Gly412= NC_000009.12:137106213:C:T ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_001410705.1:c.3240C>T NP_001397634.1:p.Cys1080= NC_000023.11:153955158:G:A p.(Cys1080=) NC_000023.11:153955158:G:A p.(Cys1080=) NC_000023.11:153955158:G:A Identity +NM_001362878.2:c.573A>T NP_001349807.1:p.Thr191= NC_000008.11:37750409:A:T p.(Thr191=) NC_000008.11:37750409:A:T p.(Thr191=) NC_000008.11:37750409:A:T Identity +NM_182894.3:c.189G>A NP_878314.1:p.Ala63= NC_000014.9:74239749:G:A p.(Ala63=) NC_000014.9:74239749:G:A p.(Ala63=) NC_000014.9:74239749:G:A Identity +NM_001113378.2:c.1194T>C NP_001106849.1:p.Val398= NC_000015.10:89276791:T:C p.(Val398=) NC_000015.10:89276791:T:C p.(Val398=) NC_000015.10:89276791:T:C Identity +NM_000497.4:c.430C>T NP_000488.3:p.Leu144= NC_000008.11:142877187:G:A p.(Leu144=) NC_000008.11:142877187:G:A p.(Leu144=) NC_000008.11:142877187:G:A Identity +NM_000702.4:c.2277G>A NP_000693.1:p.Val759= NC_000001.11:160135594:G:A p.(Val759=) NC_000001.11:160135594:G:A p.(Val759=) NC_000001.11:160135594:G:A Identity +NM_001081.4:c.981A>G NP_001072.2:p.Thr327= NC_000010.11:17110952:T:C p.(Thr327=) NC_000010.11:17110952:T:C p.(Thr327=) NC_000010.11:17110952:T:C Identity +NM_000434.4:c.564C>G NP_000425.1:p.Ser188= NC_000006.12:31861238:G:C p.(Ser188=) NC_000006.12:31861238:G:C p.(Ser188=) NC_000006.12:31861238:G:C Identity +NM_001410908.1:c.4536G>A NP_001397837.1:p.Ser1512= NC_000007.14:105112417:G:A p.(Ser1512=) NC_000007.14:105112417:G:A p.(Ser1512=) NC_000007.14:105112417:G:A Identity +NM_003235.5:c.7260G>A NP_003226.4:p.Pro2420= NC_000008.11:133095063:G:A p.(Pro2420=) NC_000008.11:133095063:G:A p.(Pro2420=) NC_000008.11:133095063:G:A Identity +NM_001174116.3:c.2370G>A NP_001167587.1:p.Leu790= NC_000015.10:51535728:C:T p.(Leu790=) NC_000015.10:51535728:C:T p.(Leu790=) NC_000015.10:51535728:C:T Identity +NM_001425246.1:c.435C>T NP_001412175.1:p.Ser145= NC_000014.9:102929203:C:T p.(Ser145=) NC_000014.9:102929203:C:T p.(Ser145=) NC_000014.9:102929203:C:T Identity +NM_138459.5:c.216G>A NP_612468.1:p.Pro72= NC_000006.12:117675885:G:A p.(Pro72=) NC_000006.12:117675885:G:A p.(Pro72=) NC_000006.12:117675885:G:A Identity +NM_000289.6:c.943A>C NP_000280.1:p.Arg315= NC_000012.12:48137726:A:C p.(Arg315=) NC_000012.12:48137726:A:C p.(Arg315=) NC_000012.12:48137726:A:C Identity +NM_001142800.2:c.741A>G NP_001136272.1:p.Pro247= NC_000006.12:65494669:T:C p.(Pro247=) NC_000006.12:65494669:T:C p.(Pro247=) NC_000006.12:65494669:T:C Identity +NM_000322.5:c.816T>C NP_000313.2:p.Ile272= NC_000006.12:42704376:A:G p.(Ile272=) NC_000006.12:42704376:A:G p.(Ile272=) NC_000006.12:42704376:A:G Identity +NM_000411.8:c.76C>T NP_000402.3:p.Leu26= NC_000021.9:36937368:G:A p.(Leu26=) NC_000021.9:36937368:G:A p.(Leu26=) NC_000021.9:36937368:G:A Identity +NM_014049.5:c.79C>A NP_054768.2:p.Arg27= NC_000003.12:128879769:C:A p.(Arg27=) NC_000003.12:128879769:C:A p.(Arg27=) NC_000003.12:128879769:C:A Identity +NM_021167.5:c.306T>A NP_066990.3:p.Ser102= NC_000007.14:92448807:T:A p.(Ser102=) NC_000007.14:92448807:T:A p.(Ser102=) NC_000007.14:92448807:T:A Identity +NM_000663.5:c.1182G>A NP_000654.2:p.Glu394= NC_000016.10:8776402:G:A p.(Glu394=) NC_000016.10:8776402:G:A p.(Glu394=) NC_000016.10:8776402:G:A Identity +NM_020884.7:c.3624G>A NP_065935.4:p.Ala1208= NC_000020.11:34997516:G:A p.(Ala1208=) NC_000020.11:34997516:G:A p.(Ala1208=) NC_000020.11:34997516:G:A Identity +NM_015346.4:c.6840G>A NP_056161.2:p.Lys2280= NC_000014.9:67755196:C:T p.(Lys2280=) NC_000014.9:67755196:C:T p.(Lys2280=) NC_000014.9:67755196:C:T Identity +NM_001081.4:c.750G>A NP_001072.2:p.Gly250= NC_000010.11:17114159:C:T p.(Gly250=) NC_000010.11:17114159:C:T p.(Gly250=) NC_000010.11:17114159:C:T Identity +NM_001278055.2:c.9108C>T NP_001264984.1:p.Ser3036= NC_000013.11:23334326:G:A p.(Ser3036=) NC_000013.11:23334326:G:A p.(Ser3036=) NC_000013.11:23334326:G:A Identity +NM_002838.5:c.1912T>C NP_002829.3:p.Leu638= NC_000001.11:198731663:T:C p.(Leu638=) NC_000001.11:198731663:T:C p.(Leu638=) NC_000001.11:198731663:T:C Identity +NM_001410705.1:c.4803G>A NP_001397634.1:p.Ser1601= NC_000023.11:153952784:C:T p.(Ser1601=) NC_000023.11:153952784:C:T p.(Ser1601=) NC_000023.11:153952784:C:T Identity +NM_001301645.2:c.174G>C NP_001288574.1:p.Leu58= NC_000004.12:154744499:G:C p.(Leu58=) NC_000004.12:154744499:G:C p.(Leu58=) NC_000004.12:154744499:G:C Identity +NM_020457.3:c.386_387insACAGCAGCAGCAGCAGCA NP_065190.2:p.Gln132_Ser133insGlnGlnGlnGlnGlnGln NC_000016.10:67842923:CAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCA p.(Gln127_Gln132dup) NC_000016.10:67842939:A:ACAGCAGCAGCAGCAGCA p.(Gln127_Gln132dup) NC_000016.10:67842940:AG:ACAGCAGCAGCAGCAGCA Analogous +NM_001271685.2:c.858C>T NP_001258614.1:p.Thr286= NC_000001.11:100015398:C:T p.(Thr286=) NC_000001.11:100015398:C:T p.(Thr286=) NC_000001.11:100015398:C:T Identity +NM_001172631.3:c.3738C>G NP_001166102.1:p.Leu1246= NC_000014.9:102465237:C:G p.(Leu1246=) NC_000014.9:102465237:C:G p.(Leu1246=) NC_000014.9:102465237:C:G Identity +NM_001001935.3:c.381C>T NP_001001935.1:p.Pro127= NC_000018.10:46089684:G:A p.(Pro127=) NC_000018.10:46089684:G:A p.(Pro127=) NC_000018.10:46089684:G:A Identity +NM_001160227.2:c.2670C>G NP_001153699.1:p.Arg890= NC_000015.10:44620353:G:C p.(Arg890=) NC_000015.10:44620353:G:C p.(Arg890=) NC_000015.10:44620353:G:C Identity +NM_000016.6:c.972T>A NP_000007.1:p.Ala324= NC_000001.11:75761147:T:A p.(Ala324=) NC_000001.11:75761147:T:A p.(Ala324=) NC_000001.11:75761147:T:A Identity +NM_001410705.1:c.2073A>G NP_001397634.1:p.Pro691= NC_000023.11:153957841:T:C p.(Pro691=) NC_000023.11:153957841:T:C p.(Pro691=) NC_000023.11:153957841:T:C Identity +NM_000047.3:c.1203C>T NP_000038.2:p.Ala401= NC_000023.11:2938180:G:A p.(Ala401=) NC_000023.11:2938180:G:A p.(Ala401=) NC_000023.11:2938180:G:A Identity +NM_001315529.2:c.6786A>G NP_001302458.1:p.Glu2262= NC_000021.9:46422084:A:G p.(Glu2262=) NC_000021.9:46422084:A:G p.(Glu2262=) NC_000021.9:46422084:A:G Identity +NM_000191.3:c.21G>T NP_000182.2:p.Ala7= NC_000001.11:23825394:C:A p.(Ala7=) NC_000001.11:23825394:C:A p.(Ala7=) NC_000001.11:23825394:C:A Identity +NM_000426.4:c.903G>C NP_000417.3:p.Ala301= NC_000006.12:129147041:G:C p.(Ala301=) NC_000006.12:129147041:G:C p.(Ala301=) NC_000006.12:129147041:G:C Identity +NM_018190.4:c.1263T>C NP_060660.2:p.Asp421= NC_000004.12:121843968:A:G p.(Asp421=) NC_000004.12:121843968:A:G p.(Asp421=) NC_000004.12:121843968:A:G Identity +NM_153000.5:c.1410G>A NP_694545.1:p.Ser470= NC_000018.10:10487902:G:A p.(Ser470=) NC_000018.10:10487902:G:A p.(Ser470=) NC_000018.10:10487902:G:A Identity +NM_001308133.2:c.3081A>G NP_001295062.1:p.Ser1027= NC_000014.9:45175912:A:G p.(Ser1027=) NC_000014.9:45175912:A:G p.(Ser1027=) NC_000014.9:45175912:A:G Identity +NM_001425749.1:c.2061G>A NP_001412678.1:p.Arg687= NC_000016.10:81919489:G:A p.(Arg687=) NC_000016.10:81919489:G:A p.(Arg687=) NC_000016.10:81919489:G:A Identity +NM_001035.3:c.7659T>C NP_001026.2:p.Tyr2553= NC_000001.11:237650022:T:C p.(Tyr2553=) NC_000001.11:237650022:T:C p.(Tyr2553=) NC_000001.11:237650022:T:C Identity +NM_001098268.2:c.1245T>C NP_001091738.1:p.Ile415= NC_000013.11:108210023:A:G p.(Ile415=) NC_000013.11:108210023:A:G p.(Ile415=) NC_000013.11:108210023:A:G Identity +NM_014254.3:c.768G>A NP_055069.1:p.Glu256= NC_000012.12:63805257:G:A p.(Glu256=) NC_000012.12:63805257:G:A p.(Glu256=) NC_000012.12:63805257:G:A Identity +NM_003235.5:c.5901C>T NP_003226.4:p.Arg1967= NC_000008.11:132969494:C:T p.(Arg1967=) NC_000008.11:132969494:C:T p.(Arg1967=) NC_000008.11:132969494:C:T Identity +NM_001411101.1:c.1347C>T NP_001398030.1:p.Ala449= NC_000017.11:82870302:C:T p.(Ala449=) NC_000017.11:82870302:C:T p.(Ala449=) NC_000017.11:82870302:C:T Identity +NM_006231.4:c.1731C>T NP_006222.2:p.Thr577= NC_000012.12:132672277:G:A p.(Thr577=) NC_000012.12:132672277:G:A p.(Thr577=) NC_000012.12:132672277:G:A Identity +NM_000996.4:c.332A>G NP_000987.2:p.Ter111= NC_000003.12:197955771:A:G p.(Ter111=) NC_000003.12:197955771:A:G p.(Ter111Ter) NC_000003.12:197955771:A:G Identity +NM_001242366.3:c.135G>A NP_001229295.1:p.Gln45= NC_000017.11:28405979:C:T p.(Gln45=) NC_000017.11:28405979:C:T p.(Gln45=) NC_000017.11:28405979:C:T Identity +NM_017890.5:c.11937T>A NP_060360.3:p.Pro3979= NC_000008.11:99875533:T:A p.(Pro3979=) NC_000008.11:99875533:T:A p.(Pro3979=) NC_000008.11:99875533:T:A Identity +NM_000238.4:c.1938C>T NP_000229.1:p.Leu646= NC_000007.14:150951454:G:A p.(Leu646=) NC_000007.14:150951454:G:A p.(Leu646=) NC_000007.14:150951454:G:A Identity +NM_207346.3:c.1056A>G NP_997229.2:p.Glu352= NC_000017.11:75522136:A:G p.(Glu352=) NC_000017.11:75522136:A:G p.(Glu352=) NC_000017.11:75522136:A:G Identity +NM_001145036.2:c.1002T>C NP_001138508.1:p.Pro334= NC_000001.11:230675099:T:C p.(Pro334=) NC_000001.11:230675099:T:C p.(Pro334=) NC_000001.11:230675099:T:C Identity +NM_017617.5:c.4902C>G NP_060087.3:p.Ala1634= NC_000009.12:136504788:G:C p.(Ala1634=) NC_000009.12:136504788:G:C p.(Ala1634=) NC_000009.12:136504788:G:C Identity +NM_003124.5:c.660A>G NP_003115.1:p.Lys220= NC_000002.12:72891410:A:G p.(Lys220=) NC_000002.12:72891410:A:G p.(Lys220=) NC_000002.12:72891410:A:G Identity +NM_006172.4:c.387C>T NP_006163.1:p.Ser129= NC_000001.11:11847175:G:A p.(Ser129=) NC_000001.11:11847175:G:A p.(Ser129=) NC_000001.11:11847175:G:A Identity +NM_006929.5:c.3636G>A NP_008860.4:p.Gly1212= NC_000006.12:31969609:G:A p.(Gly1212=) NC_000006.12:31969609:G:A p.(Gly1212=) NC_000006.12:31969609:G:A Identity +NM_000392.5:c.225T>C NP_000383.2:p.Leu75= NC_000010.11:99792250:T:C p.(Leu75=) NC_000010.11:99792250:T:C p.(Leu75=) NC_000010.11:99792250:T:C Identity +NM_004646.4:c.616_621del NP_004637.1:p.Pro206_Arg207del NC_000019.10:35849640:CCGGGG: p.(Pro206_Arg207del) NC_000019.10:35849640:CCGGGG: p.(Pro206_Arg207del) NC_000019.10:35849640:CCGGGG: Identity +NM_152443.3:c.612G>A NP_689656.2:p.Lys204= NC_000014.9:67727143:G:A p.(Lys204=) NC_000014.9:67727143:G:A p.(Lys204=) NC_000014.9:67727143:G:A Identity +NM_001136139.4:c.768G>C NP_001129611.1:p.Val256= NC_000019.10:1622107:C:G p.(Val256=) NC_000019.10:1622107:C:G p.(Val256=) NC_000019.10:1622107:C:G Identity +NM_000076.2:c.522G>C NP_000067.1:p.Ala174= NC_000011.10:2884967:C:G p.(Ala174=) NC_000011.10:2884967:C:G p.(Ala174=) NC_000011.10:2884967:C:G Identity +NM_001195227.2:c.135C>T NP_001182156.1:p.Pro45= NC_000019.10:49166082:C:T p.(Pro45=) NC_000019.10:49166082:C:T p.(Pro45=) NC_000019.10:49166082:C:T Identity +NM_000369.5:c.1611C>T NP_000360.2:p.His537= NC_000014.9:81143668:C:T p.(His537=) NC_000014.9:81143668:C:T p.(His537=) NC_000014.9:81143668:C:T Identity +NM_001011649.3:c.2739C>T NP_001011649.1:p.His913= NC_000009.12:120453509:G:A p.(His913=) NC_000009.12:120453509:G:A p.(His913=) NC_000009.12:120453509:G:A Identity +NM_001447.3:c.10593T>C NP_001438.1:p.Ala3531= NC_000005.10:151521999:A:G p.(Ala3531=) NC_000005.10:151521999:A:G p.(Ala3531=) NC_000005.10:151521999:A:G Identity +NM_000721.4:c.6588C>A NP_000712.2:p.Ser2196= NC_000001.11:181798608:C:A p.(Ser2196=) NC_000001.11:181798608:C:A p.(Ser2196=) NC_000001.11:181798608:C:A Identity +NM_001378454.1:c.8919G>T NP_001365383.1:p.Ala2973= NC_000002.12:73490877:G:T p.(Ala2973=) NC_000002.12:73490877:G:T p.(Ala2973=) NC_000002.12:73490877:G:T Identity +NM_000334.4:c.4518C>T NP_000325.4:p.Tyr1506= NC_000017.11:63941763:G:A p.(Tyr1506=) NC_000017.11:63941763:G:A p.(Tyr1506=) NC_000017.11:63941763:G:A Identity +NM_080473.5:c.933G>A NP_536721.1:p.Ser311= NC_000020.11:62465444:C:T p.(Ser311=) NC_000020.11:62465444:C:T p.(Ser311=) NC_000020.11:62465444:C:T Identity +NM_001362843.2:c.5310C>T NP_001349772.1:p.Cys1770= NC_000022.11:41177098:C:T p.(Cys1770=) NC_000022.11:41177098:C:T p.(Cys1770=) NC_000022.11:41177098:C:T Identity +NM_000787.4:c.1116G>T NP_000778.3:p.Thr372= NC_000009.12:133647936:G:T p.(Thr372=) NC_000009.12:133647936:G:T p.(Thr372=) NC_000009.12:133647936:G:T Identity +NM_000339.3:c.1236C>A NP_000330.3:p.Gly412= NC_000016.10:56879127:C:A p.(Gly412=) NC_000016.10:56879127:C:A p.(Gly412=) NC_000016.10:56879127:C:A Identity +NM_001378355.1:c.186G>C NP_001365284.1:p.Gly62= NC_000019.10:49819176:G:C p.(Gly62=) NC_000019.10:49819176:G:C p.(Gly62=) NC_000019.10:49819176:G:C Identity +NM_001033855.3:c.1149A>G NP_001029027.1:p.Arg383= NC_000010.11:14919744:T:C p.(Arg383=) NC_000010.11:14919744:T:C p.(Arg383=) NC_000010.11:14919744:T:C Identity +NM_000215.4:c.1719G>A NP_000206.2:p.Ala573= NC_000019.10:17837195:C:T p.(Ala573=) NC_000019.10:17837195:C:T p.(Ala573=) NC_000019.10:17837195:C:T Identity +NM_001018113.3:c.1251A>G NP_001018123.1:p.Lys417= NC_000023.11:14853113:T:C p.(Lys417=) NC_000023.11:14853113:T:C p.(Lys417=) NC_000023.11:14853113:T:C Identity +NM_001113378.2:c.1254A>G NP_001106849.1:p.Ala418= NC_000015.10:89276851:A:G p.(Ala418=) NC_000015.10:89276851:A:G p.(Ala418=) NC_000015.10:89276851:A:G Identity +NM_000079.4:c.1011C>T NP_000070.1:p.Ile337= NC_000002.12:174748810:G:A p.(Ile337=) NC_000002.12:174748810:G:A p.(Ile337=) NC_000002.12:174748810:G:A Identity +NM_001320613.2:c.1245G>A NP_001307542.1:p.Val415= NC_000002.12:24839982:C:T p.(Val415=) NC_000002.12:24839982:C:T p.(Val415=) NC_000002.12:24839982:C:T Identity +NM_003482.4:c.4914T>C NP_003473.3:p.Asp1638= NC_000012.12:49044792:A:G p.(Asp1638=) NC_000012.12:49044792:A:G p.(Asp1638=) NC_000012.12:49044792:A:G Identity +NM_001308276.2:c.1323T>C NP_001295205.1:p.Tyr441= NC_000010.11:93797595:T:C p.(Tyr441=) NC_000010.11:93797595:T:C p.(Tyr441=) NC_000010.11:93797595:T:C Identity +NM_001164674.2:c.24G>T NP_001158146.1:p.Leu8= NC_000003.12:4467221:C:A p.(Leu8=) NC_000003.12:4467221:C:A p.(Leu8=) NC_000003.12:4467221:C:A Identity +NM_000128.4:c.516A>T NP_000119.1:p.Thr172= NC_000004.12:186275816:A:T p.(Thr172=) NC_000004.12:186275816:A:T p.(Thr172=) NC_000004.12:186275816:A:T Identity +NM_000456.3:c.748T>C NP_000447.2:p.Leu250= NC_000012.12:56004136:T:C p.(Leu250=) NC_000012.12:56004136:T:C p.(Leu250=) NC_000012.12:56004136:T:C Identity +NM_004646.4:c.156T>C NP_004637.1:p.Arg52= NC_000019.10:35851574:A:G p.(Arg52=) NC_000019.10:35851574:A:G p.(Arg52=) NC_000019.10:35851574:A:G Identity +NM_001351225.2:c.1854T>C NP_001338154.1:p.Ala618= NC_000017.11:6589813:A:G p.(Ala618=) NC_000017.11:6589813:A:G p.(Ala618=) NC_000017.11:6589813:A:G Identity +NM_001853.4:c.1386C>T NP_001844.3:p.Val462= NC_000020.11:62835937:C:T p.(Val462=) NC_000020.11:62835937:C:T p.(Val462=) NC_000020.11:62835937:C:T Identity +NM_000540.3:c.982C>A NP_000531.2:p.Arg328= NC_000019.10:38448672:C:A p.(Arg328=) NC_000019.10:38448672:C:A p.(Arg328=) NC_000019.10:38448672:C:A Identity +NM_002439.5:c.1095C>G NP_002430.3:p.Thr365= NC_000005.10:80675049:C:G p.(Thr365=) NC_000005.10:80675049:C:G p.(Thr365=) NC_000005.10:80675049:C:G Identity +NM_001306079.2:c.1293G>A NP_001293008.1:p.Leu431= NC_000002.12:27224782:G:A p.(Leu431=) NC_000002.12:27224782:G:A p.(Leu431=) NC_000002.12:27224782:G:A Identity +NM_001321967.2:c.420G>A NP_001308896.1:p.Thr140= NC_000010.11:87784632:C:T p.(Thr140=) NC_000010.11:87784632:C:T p.(Thr140=) NC_000010.11:87784632:C:T Identity +NM_153212.3:c.294C>T NP_694944.1:p.Arg98= NC_000001.11:34761547:C:T p.(Arg98=) NC_000001.11:34761547:C:T p.(Arg98=) NC_000001.11:34761547:C:T Identity +NM_207361.6:c.1545C>T NP_997244.4:p.Gly515= NC_000013.11:38688888:C:T p.(Gly515=) NC_000013.11:38688888:C:T p.(Gly515=) NC_000013.11:38688888:C:T Identity +NM_007312.3:c.705G>A NP_009296.1:p.Leu235= NC_000003.12:50302251:C:T ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_021629.4:c.162C>T NP_067642.1:p.His54= NC_000003.12:179419439:G:A p.(His54=) NC_000003.12:179419439:G:A p.(His54=) NC_000003.12:179419439:G:A Identity +NM_001943.5:c.207A>G NP_001934.2:p.Pro69= NC_000018.10:31519927:A:G p.(Pro69=) NC_000018.10:31519927:A:G p.(Pro69=) NC_000018.10:31519927:A:G Identity +NM_001316320.2:c.192C>T NP_001303249.1:p.Ile64= NC_000001.11:11944636:C:T p.(Ile64=) NC_000001.11:11944636:C:T p.(Ile64=) NC_000001.11:11944636:C:T Identity +NM_000280.6:c.228G>A NP_000271.1:p.Pro76= NC_000011.10:31801689:C:T p.(Pro76=) NC_000011.10:31801689:C:T p.(Pro76=) NC_000011.10:31801689:C:T Identity +NM_001271043.2:c.645C>T NP_001257972.1:p.Asn215= NC_000019.10:13073107:C:T p.(Asn215=) NC_000019.10:13073107:C:T p.(Asn215=) NC_000019.10:13073107:C:T Identity +NM_001040142.2:c.5592T>C NP_001035232.1:p.Arg1864= NC_000002.12:165389397:T:C p.(Arg1864=) NC_000002.12:165389397:T:C p.(Arg1864=) NC_000002.12:165389397:T:C Identity +NM_139058.3:c.141G>A NP_620689.1:p.Ala47= NC_000023.11:25015596:C:T p.(Ala47=) NC_000023.11:25015596:C:T p.(Ala47=) NC_000023.11:25015596:C:T Identity +NM_000431.4:c.1101C>T NP_000422.1:p.Cys367= NC_000012.12:109596486:C:T p.(Cys367=) NC_000012.12:109596486:C:T p.(Cys367=) NC_000012.12:109596486:C:T Identity +NM_133379.5:c.3138T>G NP_596870.2:p.Thr1046= NC_000002.12:178782564:A:C p.(Thr1046=) NC_000002.12:178782564:A:C p.(Thr1046=) NC_000002.12:178782564:A:C Identity +NM_001135040.3:c.567G>C NP_001128512.1:p.Pro189= NC_000002.12:74371554:C:G p.(Pro189=) NC_000002.12:74371554:C:G p.(Pro189=) NC_000002.12:74371554:C:G Identity +NM_001256850.1:c.48042T>C NP_001243779.1:p.Pro16014= NC_000002.12:178607821:A:G p.(Pro16014=) NC_000002.12:178607821:A:G p.(Pro16014=) NC_000002.12:178607821:A:G Identity +NM_000112.4:c.378C>G NP_000103.2:p.Ser126= NC_000005.10:149978029:C:G p.(Ser126=) NC_000005.10:149978029:C:G p.(Ser126=) NC_000005.10:149978029:C:G Identity +NM_001008844.3:c.5700G>A NP_001008844.1:p.Gln1900= NC_000006.12:7584758:G:A p.(Gln1900=) NC_000006.12:7584758:G:A p.(Gln1900=) NC_000006.12:7584758:G:A Identity +NM_001256850.1:c.13833C>G NP_001243779.1:p.Leu4611= NC_000002.12:178735661:G:C p.(Leu4611=) NC_000002.12:178735661:G:C p.(Leu4611=) NC_000002.12:178735661:G:C Identity +NM_001306090.2:c.120C>T NP_001293019.1:p.Leu40= NC_000004.12:5711499:C:T p.(Leu40=) NC_000004.12:5711499:C:T p.(Leu40=) NC_000004.12:5711499:C:T Identity +NM_001025107.3:c.409C>T NP_001020278.1:p.Leu137= NC_000001.11:154601347:G:A p.(Leu137=) NC_000001.11:154601347:G:A p.(Leu137=) NC_000001.11:154601347:G:A Identity +NM_001256850.1:c.76395C>G NP_001243779.1:p.Gly25465= NC_000002.12:178564813:G:C p.(Gly25465=) NC_000002.12:178564813:G:C p.(Gly25465=) NC_000002.12:178564813:G:C Identity +NM_001257970.1:c.1269C>T NP_001244899.1:p.Pro423= NC_000017.11:80192531:C:T p.(Pro423=) NC_000017.11:80192531:C:T p.(Pro423=) NC_000017.11:80192531:C:T Identity +NM_000044.6:c.2493T>C NP_000035.2:p.Leu831= NC_000023.11:67722869:T:C p.(Leu831=) NC_000023.11:67722869:T:C p.(Leu831=) NC_000023.11:67722869:T:C Identity +NM_001283009.2:c.3024G>T NP_001269938.1:p.Val1008= NC_000020.11:63694402:G:T p.(Val1008=) NC_000020.11:63694402:G:T p.(Val1008=) NC_000020.11:63694402:G:T Identity +NM_001371271.1:c.3783G>T NP_001358200.1:p.Gly1261= NC_000002.12:120989696:G:T p.(Gly1261=) NC_000002.12:120989696:G:T p.(Gly1261=) NC_000002.12:120989696:G:T Identity +NM_001371271.1:c.564G>A NP_001358200.1:p.Ala188= NC_000002.12:120955350:G:A p.(Ala188=) NC_000002.12:120955350:G:A p.(Ala188=) NC_000002.12:120955350:G:A Identity +NM_033071.5:c.7053T>C NP_149062.2:p.Asp2351= NC_000006.12:152399820:A:G p.(Asp2351=) NC_000006.12:152399820:A:G p.(Asp2351=) NC_000006.12:152399820:A:G Identity +NM_001324281.3:c.708G>A NP_001311210.1:p.Leu236= NC_000007.14:2939904:C:T p.(Leu236=) NC_000007.14:2939904:C:T p.(Leu236=) NC_000007.14:2939904:C:T Identity +NM_001008844.3:c.3555G>A NP_001008844.1:p.Lys1185= NC_000006.12:7579744:G:A p.(Lys1185=) NC_000006.12:7579744:G:A p.(Lys1185=) NC_000006.12:7579744:G:A Identity +NM_001166280.2:c.588C>T NP_001159752.1:p.Leu196= NC_000009.12:110697425:C:T p.(Leu196=) NC_000009.12:110697425:C:T p.(Leu196=) NC_000009.12:110697425:C:T Identity +NM_005373.3:c.1860C>T NP_005364.1:p.His620= NC_000001.11:43352723:C:T p.(His620=) NC_000001.11:43352723:C:T p.(His620=) NC_000001.11:43352723:C:T Identity +NM_001355016.2:c.2865C>T NP_001341945.1:p.Asn955= NC_000005.10:150117697:G:A p.(Asn955=) NC_000005.10:150117697:G:A p.(Asn955=) NC_000005.10:150117697:G:A Identity +NM_001166136.2:c.3270A>G NP_001159608.1:p.Ala1090= NC_000004.12:5568490:T:C p.(Ala1090=) NC_000004.12:5568490:T:C p.(Ala1090=) NC_000004.12:5568490:T:C Identity +NM_000378.6:c.678C>G NP_000369.4:p.Thr226= NC_000011.10:32428602:G:C p.(Thr226=) NC_000011.10:32428602:G:C p.(Thr226=) NC_000011.10:32428602:G:C Identity +NM_001101417.4:c.9C>T NP_001094887.1:p.Ala3= NC_000007.14:16421313:G:A p.(Ala3=) NC_000007.14:16421313:G:A p.(Ala3=) NC_000007.14:16421313:G:A Identity +NM_001166136.2:c.1155G>A NP_001159608.1:p.Lys385= NC_000004.12:5640588:C:T p.(Lys385=) NC_000004.12:5640588:C:T p.(Lys385=) NC_000004.12:5640588:C:T Identity +NM_001723.7:c.6510T>C NP_001714.1:p.Phe2170= NC_000006.12:56616956:A:G p.(Phe2170=) NC_000006.12:56616956:A:G p.(Phe2170=) NC_000006.12:56616956:A:G Identity +NM_024753.5:c.1119A>G NP_079029.3:p.Gln373= NC_000002.12:165929715:T:C p.(Gln373=) NC_000002.12:165929715:T:C p.(Gln373=) NC_000002.12:165929715:T:C Identity +NM_000112.4:c.1011T>G NP_000103.2:p.Leu337= NC_000005.10:149980603:T:G p.(Leu337=) NC_000005.10:149980603:T:G p.(Leu337=) NC_000005.10:149980603:T:G Identity +NM_001256850.1:c.5361C>T NP_001243779.1:p.His1787= NC_000002.12:178776502:G:A p.(His1787=) NC_000002.12:178776502:G:A p.(His1787=) NC_000002.12:178776502:G:A Identity +NM_002334.4:c.3384G>C NP_002325.2:p.Gly1128= NC_000011.10:46876617:C:G p.(Gly1128=) NC_000011.10:46876617:C:G p.(Gly1128=) NC_000011.10:46876617:C:G Identity +NM_001365536.1:c.597G>T NP_001352465.1:p.Ala199= NC_000002.12:166304328:C:A p.(Ala199=) NC_000002.12:166304328:C:A p.(Ala199=) NC_000002.12:166304328:C:A Identity +NM_001127487.2:c.6198C>T NP_001120959.1:p.Thr2066= NC_000007.14:128853556:C:T p.(Thr2066=) NC_000007.14:128853556:C:T p.(Thr2066=) NC_000007.14:128853556:C:T Identity +NM_001193640.2:c.719_727del NP_001180569.1:p.Gly240_Cys242del NC_000001.11:197356894:TGGGGAATGTG:TG p.(Gly240_Cys242del) NC_000001.11:197356894:TGGGGAATGTG:TG p.(Gly240_Cys242del) NC_000001.11:197356896:GGGAATGTG: Identity +NM_001144769.5:c.4293G>A NP_001138241.1:p.Arg1431= NC_000006.12:56629332:C:T p.(Arg1431=) NC_000006.12:56629332:C:T p.(Arg1431=) NC_000006.12:56629332:C:T Identity +NM_001267550.2:c.11001G>A NP_001254479.2:p.Gln3667= NC_000002.12:178756474:C:T p.(Gln3667=) NC_000002.12:178756474:C:T p.(Gln3667=) NC_000002.12:178756474:C:T Identity +NM_005236.3:c.1788G>C NP_005227.1:p.Ala596= NC_000016.10:13935719:G:C p.(Ala596=) NC_000016.10:13935719:G:C p.(Ala596=) NC_000016.10:13935719:G:C Identity +NM_001384880.1:c.1530C>T NP_001371809.1:p.Asn510= NC_000002.12:190980661:G:A p.(Asn510=) NC_000002.12:190980661:G:A p.(Asn510=) NC_000002.12:190980661:G:A Identity +NM_001256850.1:c.25788C>T NP_001243779.1:p.Cys8596= NC_000002.12:178713918:G:A p.(Cys8596=) NC_000002.12:178713918:G:A p.(Cys8596=) NC_000002.12:178713918:G:A Identity +NM_000448.3:c.1209T>A NP_000439.2:p.Thr403= NC_000011.10:36574512:T:A p.(Thr403=) NC_000011.10:36574512:T:A p.(Thr403=) NC_000011.10:36574512:T:A Identity +NM_012186.3:c.55C>T NP_036318.1:p.Leu19= NC_000001.11:47416369:C:T p.(Leu19=) NC_000001.11:47416369:C:T p.(Leu19=) NC_000001.11:47416369:C:T Identity +NM_001184720.2:c.765C>T NP_001171649.1:p.Thr255= NC_000003.12:149024208:C:T p.(Thr255=) NC_000003.12:149024208:C:T p.(Thr255=) NC_000003.12:149024208:C:T Identity +NM_001040142.2:c.2277A>G NP_001035232.1:p.Pro759= NC_000002.12:165331456:A:G p.(Pro759=) NC_000002.12:165331456:A:G p.(Pro759=) NC_000002.12:165331456:A:G Identity +NM_000069.3:c.1902C>T NP_000060.2:p.Gly634= NC_000001.11:201075540:G:A p.(Gly634=) NC_000001.11:201075540:G:A p.(Gly634=) NC_000001.11:201075540:G:A Identity +NM_000044.6:c.496C>T NP_000035.2:p.Leu166= NC_000023.11:67545641:C:T p.(Leu166=) NC_000023.11:67545641:C:T p.(Leu166=) NC_000023.11:67545641:C:T Identity +NM_001283009.2:c.3231C>T NP_001269938.1:p.Ser1077= NC_000020.11:63694861:C:T p.(Ser1077=) NC_000020.11:63694861:C:T p.(Ser1077=) NC_000020.11:63694861:C:T Identity +NM_003280.3:c.408C>T NP_003271.1:p.Leu136= NC_000003.12:52451436:G:A p.(Leu136=) NC_000003.12:52451436:G:A p.(Leu136=) NC_000003.12:52451436:G:A Identity +NM_001384880.1:c.1191C>T NP_001371809.1:p.Thr397= NC_000002.12:190985630:G:A p.(Thr397=) NC_000002.12:190985630:G:A p.(Thr397=) NC_000002.12:190985630:G:A Identity +NM_001351527.2:c.6849A>G NP_001338456.1:p.Thr2283= NC_000009.12:132277145:T:C p.(Thr2283=) NC_000009.12:132277145:T:C p.(Thr2283=) NC_000009.12:132277145:T:C Identity +NM_001256850.1:c.37740A>G NP_001243779.1:p.Thr12580= NC_000002.12:178633835:T:C p.(Thr12580=) NC_000002.12:178633835:T:C p.(Thr12580=) NC_000002.12:178633835:T:C Identity +NM_000814.6:c.1296T>C NP_000805.1:p.Ser432= NC_000015.10:26547918:A:G p.(Ser432=) NC_000015.10:26547918:A:G p.(Ser432=) NC_000015.10:26547918:A:G Identity +NM_002334.4:c.5308C>A NP_002325.2:p.Arg1770= NC_000011.10:46862682:G:T p.(Arg1770=) NC_000011.10:46862682:G:T p.(Arg1770=) NC_000011.10:46862682:G:T Identity +NM_001077366.2:c.867C>A NP_001070834.1:p.Thr289= NC_000009.12:131512082:C:A p.(Thr289=) NC_000009.12:131512082:C:A p.(Thr289=) NC_000009.12:131512082:C:A Identity +NM_001384880.1:c.1444C>T NP_001371809.1:p.Leu482= NC_000002.12:190982460:G:A p.(Leu482=) NC_000002.12:190982460:G:A p.(Leu482=) NC_000002.12:190982460:G:A Identity +NM_001172745.3:c.1068A>G NP_001166216.1:p.Gln356= NC_000020.11:18527569:A:G p.(Gln356=) NC_000020.11:18527569:A:G p.(Gln356=) NC_000020.11:18527569:A:G Identity +NM_001144769.5:c.8023T>C NP_001138241.1:p.Leu2675= NC_000006.12:56560353:A:G p.(Leu2675=) NC_000006.12:56560353:A:G p.(Leu2675=) NC_000006.12:56560353:A:G Identity +NM_018848.3:c.1167G>T NP_061336.1:p.Thr389= NC_000020.11:10407720:C:A p.(Thr389=) NC_000020.11:10407720:C:A p.(Thr389=) NC_000020.11:10407720:C:A Identity +NM_001256850.1:c.58053A>G NP_001243779.1:p.Gly19351= NC_000002.12:178588748:T:C p.(Gly19351=) NC_000002.12:178588748:T:C p.(Gly19351=) NC_000002.12:178588748:T:C Identity +NM_001277971.2:c.522G>A NP_001264900.1:p.Thr174= NC_000008.11:43122345:G:A p.(Thr174=) NC_000008.11:43122345:G:A p.(Thr174=) NC_000008.11:43122345:G:A Identity +NM_001363669.2:c.42G>A NP_001350598.1:p.Gln14= NC_000014.9:90401373:G:A p.(Gln14=) NC_000014.9:90401373:G:A p.(Gln14=) NC_000014.9:90401373:G:A Identity +NM_001330599.2:c.429C>T NP_001317528.1:p.Pro143= NC_000008.11:115619629:G:A p.(Pro143=) NC_000008.11:115619629:G:A p.(Pro143=) NC_000008.11:115619629:G:A Identity +NM_001256850.1:c.14400T>C NP_001243779.1:p.Ser4800= NC_000002.12:178734472:A:G p.(Ser4800=) NC_000002.12:178734472:A:G p.(Ser4800=) NC_000002.12:178734472:A:G Identity +NM_000052.7:c.2526A>G NP_000043.4:p.Val842= NC_000023.11:78015780:A:G p.(Val842=) NC_000023.11:78015780:A:G p.(Val842=) NC_000023.11:78015780:A:G Identity +NM_001172745.3:c.897G>A NP_001166216.1:p.Gly299= NC_000020.11:18526434:G:A p.(Gly299=) NC_000020.11:18526434:G:A p.(Gly299=) NC_000020.11:18526434:G:A Identity +NM_001306090.2:c.213T>C NP_001293019.1:p.Ser71= NC_000004.12:5719285:T:C p.(Ser71=) NC_000004.12:5719285:T:C p.(Ser71=) NC_000004.12:5719285:T:C Identity +NM_000278.5:c.732C>T NP_000269.3:p.Val244= NC_000010.11:100806544:C:T p.(Val244=) NC_000010.11:100806544:C:T p.(Val244=) NC_000010.11:100806544:C:T Identity +NM_001306090.2:c.2859C>T NP_001293019.1:p.Asp953= NC_000004.12:5810414:C:T p.(Asp953=) NC_000004.12:5810414:C:T p.(Asp953=) NC_000004.12:5810414:C:T Identity +NM_001406482.1:c.201G>C NP_001393411.1:p.Leu67= NC_000015.10:34793497:C:G p.(Leu67=) NC_000015.10:34793497:C:G p.(Leu67=) NC_000015.10:34793497:C:G Identity +NM_005373.3:c.1812G>C NP_005364.1:p.Leu604= NC_000001.11:43352675:G:C p.(Leu604=) NC_000001.11:43352675:G:C p.(Leu604=) NC_000001.11:43352675:G:C Identity +NM_001166280.2:c.444C>T NP_001159752.1:p.Pro148= NC_000009.12:110695487:C:T p.(Pro148=) NC_000009.12:110695487:C:T p.(Pro148=) NC_000009.12:110695487:C:T Identity +NM_032737.4:c.417G>A NP_116126.3:p.Glu139= NC_000019.10:2438515:C:T p.(Glu139=) NC_000019.10:2438515:C:T p.(Glu139=) NC_000019.10:2438515:C:T Identity +NM_000404.4:c.606C>T NP_000395.3:p.Phe202= NC_000003.12:33058215:G:A p.(Phe202=) NC_000003.12:33058215:G:A p.(Phe202=) NC_000003.12:33058215:G:A Identity +NM_001193640.2:c.438G>A NP_001180569.1:p.Glu146= NC_000001.11:197328788:G:A p.(Glu146=) NC_000001.11:197328788:G:A p.(Glu146=) NC_000001.11:197328788:G:A Identity +NM_000083.3:c.555G>A NP_000074.3:p.Gln185= NC_000007.14:143321485:G:A p.(Gln185=) NC_000007.14:143321485:G:A p.(Gln185=) NC_000007.14:143321485:G:A Identity +NM_001040142.2:c.1174C>T NP_001035232.1:p.Leu392= NC_000002.12:165313758:C:T p.(Leu392=) NC_000002.12:165313758:C:T p.(Leu392=) NC_000002.12:165313758:C:T Identity +NM_001256850.1:c.1515G>A NP_001243779.1:p.Gln505= NC_000002.12:178793424:C:T p.(Gln505=) NC_000002.12:178793424:C:T p.(Gln505=) NC_000002.12:178793424:C:T Identity +NM_001206524.2:c.714T>A NP_001193453.1:p.Gly238= NC_000002.12:201203758:T:A p.(Gly238=) NC_000002.12:201203758:T:A p.(Gly238=) NC_000002.12:201203758:T:A Identity +NM_001042663.3:c.2310C>T NP_001036128.2:p.Ser770= NC_000001.11:6469091:G:A p.(Ser770=) NC_000001.11:6469091:G:A p.(Ser770=) NC_000001.11:6469091:G:A Identity +NM_000414.4:c.753G>A NP_000405.1:p.Arg251= NC_000005.10:119493830:G:A p.(Arg251=) NC_000005.10:119493830:G:A p.(Arg251=) NC_000005.10:119493830:G:A Identity +NM_000834.5:c.273C>T NP_000825.2:p.Asp91= NC_000012.12:13865935:G:A p.(Asp91=) NC_000012.12:13865935:G:A p.(Asp91=) NC_000012.12:13865935:G:A Identity +NM_018848.3:c.678A>G NP_061336.1:p.Gln226= NC_000020.11:10412836:T:C p.(Gln226=) NC_000020.11:10412836:T:C p.(Gln226=) NC_000020.11:10412836:T:C Identity +NM_001272003.2:c.681C>T NP_001258932.1:p.Phe227= NC_000009.12:135758478:C:T p.(Phe227=) NC_000009.12:135758478:C:T p.(Phe227=) NC_000009.12:135758478:C:T Identity +NM_004281.4:c.1149C>T NP_004272.2:p.Val383= NC_000010.11:119676702:C:T p.(Val383=) NC_000010.11:119676702:C:T p.(Val383=) NC_000010.11:119676702:C:T Identity +NM_001283009.2:c.1299G>A NP_001269938.1:p.Arg433= NC_000020.11:63685822:G:A p.(Arg433=) NC_000020.11:63685822:G:A p.(Arg433=) NC_000020.11:63685822:G:A Identity +NM_001283009.2:c.321A>G NP_001269938.1:p.Pro107= NC_000020.11:63661868:A:G p.(Pro107=) NC_000020.11:63661868:A:G p.(Pro107=) NC_000020.11:63661868:A:G Identity +NM_000044.6:c.1111C>T NP_000035.2:p.Leu371= NC_000023.11:67546256:C:T p.(Leu371=) NC_000023.11:67546256:C:T p.(Leu371=) NC_000023.11:67546256:C:T Identity +NM_000180.4:c.2409C>T NP_000171.1:p.Asp803= NC_000017.11:8014024:C:T p.(Asp803=) NC_000017.11:8014024:C:T p.(Asp803=) NC_000017.11:8014024:C:T Identity +NM_018848.3:c.336A>G NP_061336.1:p.Thr112= NC_000020.11:10413178:T:C p.(Thr112=) NC_000020.11:10413178:T:C p.(Thr112=) NC_000020.11:10413178:T:C Identity +NM_001324281.3:c.2316G>A NP_001311210.1:p.Ser772= NC_000007.14:2919565:C:T p.(Ser772=) NC_000007.14:2919565:C:T p.(Ser772=) NC_000007.14:2919565:C:T Identity +NM_213655.5:c.2259C>T NP_998820.3:p.Ser753= NC_000012.12:865228:C:T p.(Ser753=) NC_000012.12:865228:C:T p.(Ser753=) NC_000012.12:865228:C:T Identity +NM_012414.4:c.1884T>C NP_036546.2:p.Val628= NC_000001.11:220184149:A:G p.(Val628=) NC_000001.11:220184149:A:G p.(Val628=) NC_000001.11:220184149:A:G Identity +NM_001006657.2:c.105T>C NP_001006658.1:p.Asp35= NC_000002.12:19989201:A:G p.(Asp35=) NC_000002.12:19989201:A:G p.(Asp35=) NC_000002.12:19989201:A:G Identity +NM_033071.5:c.22665G>A NP_149062.2:p.Glu7555= NC_000006.12:152206308:C:T p.(Glu7555=) NC_000006.12:152206308:C:T p.(Glu7555=) NC_000006.12:152206308:C:T Identity +NM_001172309.2:c.738C>T NP_001165780.1:p.Leu246= NC_000001.11:77929380:C:T p.(Leu246=) NC_000001.11:77929380:C:T p.(Leu246=) NC_000001.11:77929380:C:T Identity +NM_001319034.2:c.3696C>T NP_001305963.1:p.Ser1232= NC_000006.12:7579885:C:T p.(Ser1232=) NC_000006.12:7579885:C:T p.(Ser1232=) NC_000006.12:7579885:C:T Identity +NM_003900.5:c.186C>T NP_003891.1:p.Gly62= NC_000005.10:179821121:C:T p.(Gly62=) NC_000005.10:179821121:C:T p.(Gly62=) NC_000005.10:179821121:C:T Identity +NM_000112.4:c.1944T>C NP_000103.2:p.Thr648= NC_000005.10:149981536:T:C p.(Thr648=) NC_000005.10:149981536:T:C p.(Thr648=) NC_000005.10:149981536:T:C Identity +NM_005373.3:c.837C>T NP_005364.1:p.Asp279= NC_000001.11:43340109:C:T p.(Asp279=) NC_000001.11:43340109:C:T p.(Asp279=) NC_000001.11:43340109:C:T Identity +NM_001256850.1:c.49440T>C NP_001243779.1:p.Ala16480= NC_000002.12:178604725:A:G p.(Ala16480=) NC_000002.12:178604725:A:G p.(Ala16480=) NC_000002.12:178604725:A:G Identity +NM_000069.3:c.5280G>T NP_000060.2:p.Gly1760= NC_000001.11:201040320:C:A p.(Gly1760=) NC_000001.11:201040320:C:A p.(Gly1760=) NC_000001.11:201040320:C:A Identity +NM_002334.4:c.3228C>T NP_002325.2:p.Ile1076= NC_000011.10:46877247:G:A p.(Ile1076=) NC_000011.10:46877247:G:A p.(Ile1076=) NC_000011.10:46877247:G:A Identity +NM_001127649.3:c.429C>T NP_001121121.1:p.Ala143= NC_000022.11:18083493:C:T p.(Ala143=) NC_000022.11:18083493:C:T p.(Ala143=) NC_000022.11:18083493:C:T Identity +NM_001256850.1:c.94401G>A NP_001243779.1:p.Lys31467= NC_000002.12:178537882:C:T p.(Lys31467=) NC_000002.12:178537882:C:T p.(Lys31467=) NC_000002.12:178537882:C:T Identity +NM_024753.5:c.645T>C NP_079029.3:p.Phe215= NC_000002.12:165941091:A:G p.(Phe215=) NC_000002.12:165941091:A:G p.(Phe215=) NC_000002.12:165941091:A:G Identity +NM_001256850.1:c.21213T>C NP_001243779.1:p.Asn7071= NC_000002.12:178722734:A:G p.(Asn7071=) NC_000002.12:178722734:A:G p.(Asn7071=) NC_000002.12:178722734:A:G Identity +NM_001294332.2:c.1794C>T NP_001281261.1:p.Asp598= NC_000005.10:256362:C:T p.(Asp598=) NC_000005.10:256362:C:T p.(Asp598=) NC_000005.10:256362:C:T Identity +NM_000431.4:c.84A>G NP_000422.1:p.Ala28= NC_000012.12:109576002:A:G p.(Ala28=) NC_000012.12:109576002:A:G p.(Ala28=) NC_000012.12:109576002:A:G Identity +NM_000445.5:c.1986G>A NP_000436.2:p.Lys662= NC_000008.11:143932471:C:T p.(Lys662=) NC_000008.11:143932471:C:T p.(Lys662=) NC_000008.11:143932471:C:T Identity +NM_001164673.2:c.384G>A NP_001158145.1:p.Pro128= NC_000004.12:3476393:G:A p.(Pro128=) NC_000004.12:3476393:G:A p.(Pro128=) NC_000004.12:3476393:G:A Identity +NM_001005407.2:c.987G>T NP_001005407.1:p.Gly329= NC_000016.10:1200438:G:T p.(Gly329=) NC_000016.10:1200438:G:T p.(Gly329=) NC_000016.10:1200438:G:T Identity +NM_001306090.2:c.1398A>G NP_001293019.1:p.Gln466= NC_000004.12:5753866:A:G p.(Gln466=) NC_000004.12:5753866:A:G p.(Gln466=) NC_000004.12:5753866:A:G Identity +NM_001206524.2:c.1053C>T NP_001193453.1:p.Asn351= NC_000002.12:201209400:C:T p.(Asn351=) NC_000002.12:201209400:C:T p.(Asn351=) NC_000002.12:201209400:C:T Identity +NM_001256850.1:c.64161G>T NP_001243779.1:p.Thr21387= NC_000002.12:178577250:C:A p.(Thr21387=) NC_000002.12:178577250:C:A p.(Thr21387=) NC_000002.12:178577250:C:A Identity +NM_001128227.3:c.2061C>A NP_001121699.1:p.Ile687= NC_000009.12:36217565:G:T p.(Ile687=) NC_000009.12:36217565:G:T p.(Ile687=) NC_000009.12:36217565:G:T Identity +NM_000052.7:c.147T>C NP_000043.4:p.Thr49= NC_000023.11:77988267:T:C p.(Thr49=) NC_000023.11:77988267:T:C p.(Thr49=) NC_000023.11:77988267:T:C Identity +NM_005373.3:c.219G>A NP_005364.1:p.Lys73= NC_000001.11:43338547:G:A p.(Lys73=) NC_000001.11:43338547:G:A p.(Lys73=) NC_000001.11:43338547:G:A Identity +NM_002292.4:c.1563C>T NP_002283.3:p.Pro521= NC_000003.12:49129279:G:A p.(Pro521=) NC_000003.12:49129279:G:A p.(Pro521=) NC_000003.12:49129279:G:A Identity +NM_000263.4:c.1695G>T NP_000254.2:p.Arg565= NC_000017.11:42543700:G:T p.(Arg565=) NC_000017.11:42543700:G:T p.(Arg565=) NC_000017.11:42543700:G:T Identity +NM_001008844.3:c.3264G>T NP_001008844.1:p.Leu1088= NC_000006.12:7579453:G:T p.(Leu1088=) NC_000006.12:7579453:G:T p.(Leu1088=) NC_000006.12:7579453:G:T Identity +NM_001291997.2:c.21G>A NP_001278926.1:p.Arg7= NC_000016.10:78115104:G:A p.(Arg7=) NC_000016.10:78115104:G:A p.(Arg7=) NC_000016.10:78115104:G:A Identity +NM_001103.4:c.2232G>T NP_001094.1:p.Thr744= NC_000001.11:236757562:G:T p.(Thr744=) NC_000001.11:236757562:G:T p.(Thr744=) NC_000001.11:236757562:G:T Identity +NM_001017423.2:c.1545C>T NP_001017423.1:p.His515= NC_000010.11:95616530:G:A p.(His515=) NC_000010.11:95616530:G:A p.(His515=) NC_000010.11:95616530:G:A Identity +NM_001324281.3:c.621C>G NP_001311210.1:p.Arg207= NC_000007.14:2944274:G:C p.(Arg207=) NC_000007.14:2944274:G:C p.(Arg207=) NC_000007.14:2944274:G:C Identity +NM_000445.5:c.2016C>T NP_000436.2:p.Ser672= NC_000008.11:143932441:G:A p.(Ser672=) NC_000008.11:143932441:G:A p.(Ser672=) NC_000008.11:143932441:G:A Identity +NM_001165928.4:c.2280C>T NP_001159400.3:p.Val760= NC_000003.12:49532790:C:T p.(Val760=) NC_000003.12:49532790:C:T p.(Val760=) NC_000003.12:49532790:C:T Identity +NM_201378.4:c.1443C>T NP_958780.1:p.Gly481= NC_000008.11:143933044:G:A p.(Gly481=) NC_000008.11:143933044:G:A p.(Gly481=) NC_000008.11:143933044:G:A Identity +NM_001256850.1:c.78132C>T NP_001243779.1:p.Val26044= NC_000002.12:178563076:G:A p.(Val26044=) NC_000002.12:178563076:G:A p.(Val26044=) NC_000002.12:178563076:G:A Identity +NM_001257970.1:c.342C>T NP_001244899.1:p.Asn114= NC_000017.11:80182782:C:T p.(Asn114=) NC_000017.11:80182782:C:T p.(Asn114=) NC_000017.11:80182782:C:T Identity +NM_000083.3:c.1536T>C NP_000074.3:p.Phe512= NC_000007.14:143339574:T:C p.(Phe512=) NC_000007.14:143339574:T:C p.(Phe512=) NC_000007.14:143339574:T:C Identity +NM_000475.5:c.162G>A NP_000466.2:p.Leu54= NC_000023.11:30309201:C:T p.(Leu54=) NC_000023.11:30309201:C:T p.(Leu54=) NC_000023.11:30309201:C:T Identity +NM_033071.5:c.11700A>G NP_149062.2:p.Glu3900= NC_000006.12:152347223:T:C p.(Glu3900=) NC_000006.12:152347223:T:C p.(Glu3900=) NC_000006.12:152347223:T:C Identity +NM_001178133.2:c.1263G>A NP_001171604.1:p.Glu421= NC_000010.11:102617394:G:A p.(Glu421=) NC_000010.11:102617394:G:A p.(Glu421=) NC_000010.11:102617394:G:A Identity +NM_000834.5:c.2877C>T NP_000825.2:p.Phe959= NC_000012.12:13564360:G:A p.(Phe959=) NC_000012.12:13564360:G:A p.(Phe959=) NC_000012.12:13564360:G:A Identity +NM_033071.5:c.11847C>A NP_149062.2:p.Ile3949= NC_000006.12:152347076:G:T p.(Ile3949=) NC_000006.12:152347076:G:T p.(Ile3949=) NC_000006.12:152347076:G:T Identity +NM_000158.4:c.339A>C NP_000149.4:p.Pro113= NC_000003.12:81670927:T:G p.(Pro113=) NC_000003.12:81670927:T:G p.(Pro113=) NC_000003.12:81670927:T:G Identity +NM_001283009.2:c.2466G>A NP_001269938.1:p.Gln822= NC_000020.11:63690856:G:A p.(Gln822=) NC_000020.11:63690856:G:A p.(Gln822=) NC_000020.11:63690856:G:A Identity +NM_001184985.2:c.174C>G NP_001171914.1:p.Arg58= NC_000012.12:753738:C:G p.(Arg58=) NC_000012.12:753738:C:G p.(Arg58=) NC_000012.12:753738:C:G Identity +NM_001283009.2:c.2247C>T NP_001269938.1:p.Phe749= NC_000020.11:63690191:C:T p.(Phe749=) NC_000020.11:63690191:C:T p.(Phe749=) NC_000020.11:63690191:C:T Identity +NM_004990.4:c.1233G>A NP_004981.2:p.Glu411= NC_000012.12:57500461:G:A p.(Glu411=) NC_000012.12:57500461:G:A p.(Glu411=) NC_000012.12:57500461:G:A Identity +NM_001365536.1:c.3366A>C NP_001352465.1:p.Ser1122= NC_000002.12:166251870:T:G p.(Ser1122=) NC_000002.12:166251870:T:G p.(Ser1122=) NC_000002.12:166251870:T:G Identity +NM_000263.4:c.1842C>T NP_000254.2:p.Ser614= NC_000017.11:42543847:C:T p.(Ser614=) NC_000017.11:42543847:C:T p.(Ser614=) NC_000017.11:42543847:C:T Identity +NM_032737.4:c.1017G>A NP_116126.3:p.Glu339= NC_000019.10:2434479:C:T p.(Glu339=) NC_000019.10:2434479:C:T p.(Glu339=) NC_000019.10:2434479:C:T Identity +NM_001256850.1:c.37944A>G NP_001243779.1:p.Lys12648= NC_000002.12:178633491:T:C p.(Lys12648=) NC_000002.12:178633491:T:C p.(Lys12648=) NC_000002.12:178633491:T:C Identity +NM_001256850.1:c.27297T>C NP_001243779.1:p.Phe9099= NC_000002.12:178710848:A:G p.(Phe9099=) NC_000002.12:178710848:A:G p.(Phe9099=) NC_000002.12:178710848:A:G Identity +NM_000194.3:c.492G>C NP_000185.1:p.Leu164= NC_000023.11:134498395:G:C p.(Leu164=) NC_000023.11:134498395:G:C p.(Leu164=) NC_000023.11:134498395:G:C Identity +NM_001008844.3:c.4374T>C NP_001008844.1:p.Gly1458= NC_000006.12:7583432:T:C p.(Gly1458=) NC_000006.12:7583432:T:C p.(Gly1458=) NC_000006.12:7583432:T:C Identity +NM_002334.4:c.2337C>T NP_002325.2:p.Asp779= NC_000011.10:46886411:G:A p.(Asp779=) NC_000011.10:46886411:G:A p.(Asp779=) NC_000011.10:46886411:G:A Identity +NM_000431.4:c.672A>G NP_000422.1:p.Leu224= NC_000012.12:109586793:A:G p.(Leu224=) NC_000012.12:109586793:A:G p.(Leu224=) NC_000012.12:109586793:A:G Identity +NM_001256850.1:c.42571C>A NP_001243779.1:p.Arg14191= NC_000002.12:178617856:G:T p.(Arg14191=) NC_000002.12:178617856:G:T p.(Arg14191=) NC_000002.12:178617856:G:T Identity +NM_000182.5:c.1761G>A NP_000173.2:p.Leu587= NC_000002.12:26193700:C:T p.(Leu587=) NC_000002.12:26193700:C:T p.(Leu587=) NC_000002.12:26193700:C:T Identity +NM_000069.3:c.544C>T NP_000060.2:p.Leu182= NC_000001.11:201091789:G:A p.(Leu182=) NC_000001.11:201091789:G:A p.(Leu182=) NC_000001.11:201091789:G:A Identity +NM_000168.6:c.3099G>A NP_000159.3:p.Pro1033= NC_000007.14:41965973:C:T p.(Pro1033=) NC_000007.14:41965973:C:T p.(Pro1033=) NC_000007.14:41965973:C:T Identity +NM_001256850.1:c.52332C>T NP_001243779.1:p.Asp17444= NC_000002.12:178597914:G:A p.(Asp17444=) NC_000002.12:178597914:G:A p.(Asp17444=) NC_000002.12:178597914:G:A Identity +NM_001031714.4:c.3138C>T NP_001026884.3:p.Gly1046= NC_000014.9:104714299:C:T p.(Gly1046=) NC_000014.9:104714299:C:T p.(Gly1046=) NC_000014.9:104714299:C:T Identity +NM_000180.4:c.3222G>A NP_000171.1:p.Pro1074= NC_000017.11:8016287:G:A p.(Pro1074=) NC_000017.11:8016287:G:A p.(Pro1074=) NC_000017.11:8016287:G:A Identity +NM_015512.5:c.8634G>A NP_056327.4:p.Thr2878= NC_000003.12:52386167:G:A p.(Thr2878=) NC_000003.12:52386167:G:A p.(Thr2878=) NC_000003.12:52386167:G:A Identity +NM_001349253.2:c.2595G>A NP_001336182.1:p.Gln865= NC_000003.12:38894772:C:T p.(Gln865=) NC_000003.12:38894772:C:T p.(Gln865=) NC_000003.12:38894772:C:T Identity +NM_000182.5:c.2291G>A NP_000173.2:p.Ter764= NC_000002.12:26191250:C:T p.(Ter764=) NC_000002.12:26191250:C:T p.(Ter764Ter) NC_000002.12:26191250:C:T Identity +NM_001244189.2:c.2955A>G NP_001231118.1:p.Lys985= NC_000014.9:58474767:A:G p.(Lys985=) NC_000014.9:58474767:A:G p.(Lys985=) NC_000014.9:58474767:A:G Identity +NM_033071.5:c.17730C>T NP_149062.2:p.Ala5910= NC_000006.12:152293656:G:A p.(Ala5910=) NC_000006.12:152293656:G:A p.(Ala5910=) NC_000006.12:152293656:G:A Identity +NM_001256850.1:c.44919G>A NP_001243779.1:p.Gly14973= NC_000002.12:178612878:C:T p.(Gly14973=) NC_000002.12:178612878:C:T p.(Gly14973=) NC_000002.12:178612878:C:T Identity +NM_000445.5:c.1500G>A NP_000436.2:p.Arg500= NC_000008.11:143933110:C:T p.(Arg500=) NC_000008.11:143933110:C:T p.(Arg500=) NC_000008.11:143933110:C:T Identity +NM_139058.3:c.1311C>T NP_620689.1:p.Ala437= NC_000023.11:25007247:G:A p.(Ala437=) NC_000023.11:25007247:G:A p.(Ala437=) NC_000023.11:25007247:G:A Identity +NM_001008844.3:c.3346_3354del NP_001008844.1:p.Tyr1116_Ile1118del NC_000006.12:7579534:TTATGAGATT:T p.(Tyr1116_Ile1118del) NC_000006.12:7579534:TTATGAGATT:T p.(Tyr1116_Ile1118del) NC_000006.12:7579535:TATGAGATT: Identity +NM_001256850.1:c.76992T>G NP_001243779.1:p.Pro25664= NC_000002.12:178564216:A:C p.(Pro25664=) NC_000002.12:178564216:A:C p.(Pro25664=) NC_000002.12:178564216:A:C Identity +NM_001127487.2:c.6225C>T NP_001120959.1:p.Tyr2075= NC_000007.14:128853583:C:T p.(Tyr2075=) NC_000007.14:128853583:C:T p.(Tyr2075=) NC_000007.14:128853583:C:T Identity +NM_000161.3:c.666C>T NP_000152.1:p.Asn222= NC_000014.9:54844103:G:A p.(Asn222=) NC_000014.9:54844103:G:A p.(Asn222=) NC_000014.9:54844103:G:A Identity +NM_080605.4:c.877C>T NP_542172.2:p.Leu293= NC_000001.11:1233154:C:T p.(Leu293=) NC_000001.11:1233154:C:T p.(Leu293=) NC_000001.11:1233154:C:T Identity +NM_001166136.2:c.1771T>C NP_001159608.1:p.Leu591= NC_000004.12:5625783:A:G p.(Leu591=) NC_000004.12:5625783:A:G p.(Leu591=) NC_000004.12:5625783:A:G Identity +NM_001193640.2:c.3072C>G NP_001180569.1:p.Gly1024= NC_000001.11:197435270:C:G p.(Gly1024=) NC_000001.11:197435270:C:G p.(Gly1024=) NC_000001.11:197435270:C:G Identity +NM_033071.5:c.20772A>G NP_149062.2:p.Gln6924= NC_000006.12:152231444:T:C p.(Gln6924=) NC_000006.12:152231444:T:C p.(Gln6924=) NC_000006.12:152231444:T:C Identity +NM_000329.3:c.318T>C NP_000320.1:p.Cys106= NC_000001.11:68444810:A:G p.(Cys106=) NC_000001.11:68444810:A:G p.(Cys106=) NC_000001.11:68444810:A:G Identity +NM_001256850.1:c.22353T>C NP_001243779.1:p.Asp7451= NC_000002.12:178720457:A:G p.(Asp7451=) NC_000002.12:178720457:A:G p.(Asp7451=) NC_000002.12:178720457:A:G Identity +NM_001256850.1:c.27126T>C NP_001243779.1:p.Asn9042= NC_000002.12:178711158:A:G p.(Asn9042=) NC_000002.12:178711158:A:G p.(Asn9042=) NC_000002.12:178711158:A:G Identity +NM_080605.4:c.336G>A NP_542172.2:p.Glu112= NC_000001.11:1232613:G:A p.(Glu112=) NC_000001.11:1232613:G:A p.(Glu112=) NC_000001.11:1232613:G:A Identity +NM_000083.3:c.1185A>G NP_000074.3:p.Gly395= NC_000007.14:143332436:A:G p.(Gly395=) NC_000007.14:143332436:A:G p.(Gly395=) NC_000007.14:143332436:A:G Identity +NM_000445.5:c.8277G>A NP_000436.2:p.Ala2759= NC_000008.11:143921624:C:T p.(Ala2759=) NC_000008.11:143921624:C:T p.(Ala2759=) NC_000008.11:143921624:C:T Identity +NM_001135040.3:c.2031C>G NP_001128512.1:p.Arg677= NC_000002.12:74367788:G:C p.(Arg677=) NC_000002.12:74367788:G:C p.(Arg677=) NC_000002.12:74367788:G:C Identity +NM_000404.4:c.1329A>T NP_000395.3:p.Ala443= NC_000003.12:33018465:T:A p.(Ala443=) NC_000003.12:33018465:T:A p.(Ala443=) NC_000003.12:33018465:T:A Identity +NM_024753.5:c.541C>T NP_079029.3:p.Leu181= NC_000002.12:165943229:G:A p.(Leu181=) NC_000002.12:165943229:G:A p.(Leu181=) NC_000002.12:165943229:G:A Identity +NM_001256850.1:c.312C>A NP_001243779.1:p.Pro104= NC_000002.12:178800665:G:T p.(Pro104=) NC_000002.12:178800665:G:T p.(Pro104=) NC_000002.12:178800665:G:T Identity +NM_002180.3:c.2406A>G NP_002171.2:p.Pro802= NC_000011.10:68936885:A:G p.(Pro802=) NC_000011.10:68936885:A:G p.(Pro802=) NC_000011.10:68936885:A:G Identity +NM_000536.4:c.1461T>G NP_000527.2:p.Ala487= NC_000011.10:36592707:A:C p.(Ala487=) NC_000011.10:36592707:A:C p.(Ala487=) NC_000011.10:36592707:A:C Identity +NM_001079812.3:c.3040T>C NP_001073280.1:p.Leu1014= NC_000005.10:141528533:A:G p.(Leu1014=) NC_000005.10:141528533:A:G p.(Leu1014=) NC_000005.10:141528533:A:G Identity +NM_002180.3:c.1026C>T NP_002171.2:p.Leu342= NC_000011.10:68917848:C:T p.(Leu342=) NC_000011.10:68917848:C:T p.(Leu342=) NC_000011.10:68917848:C:T Identity +NM_015512.5:c.9267C>G NP_056327.4:p.Ala3089= NC_000003.12:52388512:C:G p.(Ala3089=) NC_000003.12:52388512:C:G p.(Ala3089=) NC_000003.12:52388512:C:G Identity +NM_000445.5:c.13575_13586dup NP_000436.2:p.Arg4529_Arg4530insAlaGlySerArg NC_000008.11:143916315:CGGGAGCCGGCCCGGGAGCCGG:CGGGAGCCGGCCCGGGAGCCGGCCCGGGAGCCGG p.(Ala4526_Arg4529dup) NC_000008.11:143916315:CGGGAGCCGGCCCGGGAGCCGG:CGGGAGCCGGCCCGGGAGCCGGCCCGGGAGCCGG p.(Ala4526_Arg4529dup) ERR:SPDI Analogous +NM_001166280.2:c.837A>G NP_001159752.1:p.Arg279= NC_000009.12:110747693:A:G p.(Arg279=) NC_000009.12:110747693:A:G p.(Arg279=) NC_000009.12:110747693:A:G Identity +NM_002292.4:c.651C>G NP_002283.3:p.Val217= NC_000003.12:49131439:G:C p.(Val217=) NC_000003.12:49131439:G:C p.(Val217=) NC_000003.12:49131439:G:C Identity +NM_000404.4:c.981G>A NP_000395.3:p.Gln327= NC_000003.12:33046206:C:T p.(Gln327=) NC_000003.12:33046206:C:T p.(Gln327=) NC_000003.12:33046206:C:T Identity +NM_000414.4:c.1599A>T NP_000405.1:p.Gly533= NC_000005.10:119525941:A:T p.(Gly533=) NC_000005.10:119525941:A:T p.(Gly533=) NC_000005.10:119525941:A:T Identity +NM_001199107.2:c.612T>C NP_001186036.1:p.Asp204= NC_000016.10:2496759:T:C p.(Asp204=) NC_000016.10:2496759:T:C p.(Asp204=) NC_000016.10:2496759:T:C Identity +NM_000377.3:c.846C>T NP_000368.1:p.Thr282= NC_000023.11:48688367:C:T p.(Thr282=) NC_000023.11:48688367:C:T p.(Thr282=) NC_000023.11:48688367:C:T Identity +NM_001354927.2:c.264A>G NP_001341856.1:p.Val88= NC_000009.12:35066720:T:C p.(Val88=) NC_000009.12:35066720:T:C p.(Val88=) NC_000009.12:35066720:T:C Identity +NM_001406483.1:c.45C>T NP_001393412.1:p.Gly15= NC_000015.10:34794763:G:A p.(Gly15=) NC_000015.10:34794763:G:A p.(Gly15=) NC_000015.10:34794763:G:A Identity +NM_001272003.2:c.1433_1450dup NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr NC_000009.12:135770003:GCCCGGCGACCTCCACCC:GCCCGGCGACCTCCACCCGCCCGGCGACCTCCACCC p.(Thr483_Leu484insArgProAlaThrSerThr) NC_000009.12:135770003:GCCCGGCGACCTCCACCC:GCCCGGCGACCTCCACCCGCCCGGCGACCTCCACCC p.(Thr483_Leu484insArgProAlaThrSerThr) ERR:SPDI Identity +NM_000052.7:c.843C>T NP_000043.4:p.Phe281= NC_000023.11:77989464:C:T p.(Phe281=) NC_000023.11:77989464:C:T p.(Phe281=) NC_000023.11:77989464:C:T Identity +NM_001256850.1:c.41673G>A NP_001243779.1:p.Lys13891= NC_000002.12:178619720:C:T p.(Lys13891=) NC_000002.12:178619720:C:T p.(Lys13891=) NC_000002.12:178619720:C:T Identity +NM_001256850.1:c.102189C>T NP_001243779.1:p.Phe34063= NC_000002.12:178528638:G:A p.(Phe34063=) NC_000002.12:178528638:G:A p.(Phe34063=) NC_000002.12:178528638:G:A Identity +NM_001282206.2:c.318T>C NP_001269135.1:p.Tyr106= NC_000009.12:34635685:A:G p.(Tyr106=) NC_000009.12:34635685:A:G p.(Tyr106=) NC_000009.12:34635685:A:G Identity +NM_001001557.4:c.432G>C NP_001001557.1:p.Arg144= NC_000008.11:96145498:C:G p.(Arg144=) NC_000008.11:96145498:C:G p.(Arg144=) NC_000008.11:96145498:C:G Identity +NM_022168.4:c.2055A>G NP_071451.2:p.Lys685= NC_000002.12:162276935:T:C p.(Lys685=) NC_000002.12:162276935:T:C p.(Lys685=) NC_000002.12:162276935:T:C Identity +NM_001271043.2:c.591A>G NP_001257972.1:p.Gly197= NC_000019.10:13073053:A:G p.(Gly197=) NC_000019.10:13073053:A:G p.(Gly197=) NC_000019.10:13073053:A:G Identity +NM_001172745.3:c.375T>C NP_001166216.1:p.Ala125= NC_000020.11:18524440:T:C p.(Ala125=) NC_000020.11:18524440:T:C p.(Ala125=) NC_000020.11:18524440:T:C Identity +NM_001256850.1:c.42516T>C NP_001243779.1:p.Ala14172= NC_000002.12:178617911:A:G p.(Ala14172=) NC_000002.12:178617911:A:G p.(Ala14172=) NC_000002.12:178617911:A:G Identity +NM_000083.3:c.642C>G NP_000074.3:p.Ala214= NC_000007.14:143321793:C:G p.(Ala214=) NC_000007.14:143321793:C:G p.(Ala214=) NC_000007.14:143321793:C:G Identity +NM_001354927.2:c.1608G>T NP_001341856.1:p.Ser536= NC_000009.12:35059753:C:A p.(Ser536=) NC_000009.12:35059753:C:A p.(Ser536=) NC_000009.12:35059753:C:A Identity +NM_000158.4:c.1395A>G NP_000149.4:p.Thr465= NC_000003.12:81581215:T:C p.(Thr465=) NC_000003.12:81581215:T:C p.(Thr465=) NC_000003.12:81581215:T:C Identity +NM_007248.5:c.675C>T NP_009179.2:p.Val225= NC_000003.12:48467359:C:T p.(Val225=) NC_000003.12:48467359:C:T p.(Val225=) NC_000003.12:48467359:C:T Identity +NM_000161.3:c.486C>A NP_000152.1:p.Val162= NC_000014.9:54859703:G:T p.(Val162=) NC_000014.9:54859703:G:T p.(Val162=) NC_000014.9:54859703:G:T Identity +NM_000329.3:c.1251G>A NP_000320.1:p.Glu417= NC_000001.11:68431368:C:T p.(Glu417=) NC_000001.11:68431368:C:T p.(Glu417=) NC_000001.11:68431368:C:T Identity +NM_002292.4:c.3712C>T NP_002283.3:p.Leu1238= NC_000003.12:49123812:G:A p.(Leu1238=) NC_000003.12:49123812:G:A p.(Leu1238=) NC_000003.12:49123812:G:A Identity +NM_001110219.3:c.306C>G NP_001103689.1:p.Thr102= NC_000013.11:20223174:G:C p.(Thr102=) NC_000013.11:20223174:G:C p.(Thr102=) NC_000013.11:20223174:G:C Identity +NM_001127656.1:c.126G>A NP_001121128.1:p.Lys42= NC_000011.10:19188290:C:T ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found +NM_000388.4:c.867G>T NP_000379.3:p.Thr289= NC_000003.12:122261901:G:T p.(Thr289=) NC_000003.12:122261901:G:T p.(Thr289=) NC_000003.12:122261901:G:T Identity +NM_001283009.2:c.3180G>A NP_001269938.1:p.Val1060= NC_000020.11:63694810:G:A p.(Val1060=) NC_000020.11:63694810:G:A p.(Val1060=) NC_000020.11:63694810:G:A Identity +NM_001184985.2:c.5517T>A NP_001171914.1:p.Thr1839= NC_000012.12:885540:T:A p.(Thr1839=) NC_000012.12:885540:T:A p.(Thr1839=) NC_000012.12:885540:T:A Identity +NM_001199954.3:c.199C>T NP_001186883.1:p.Leu67= NC_000017.11:81512066:G:A p.(Leu67=) NC_000017.11:81512066:G:A p.(Leu67=) NC_000017.11:81512066:G:A Identity +NM_007248.5:c.24C>T NP_009179.2:p.Asp8= NC_000003.12:48466708:C:T p.(Asp8=) NC_000003.12:48466708:C:T p.(Asp8=) NC_000003.12:48466708:C:T Identity +NM_001291997.2:c.684G>C NP_001278926.1:p.Leu228= NC_000016.10:78432718:G:C p.(Leu228=) NC_000016.10:78432718:G:C p.(Leu228=) NC_000016.10:78432718:G:C Identity +NM_000044.6:c.1719A>G NP_000035.2:p.Gly573= NC_000023.11:67643357:A:G p.(Gly573=) NC_000023.11:67643357:A:G p.(Gly573=) NC_000023.11:67643357:A:G Identity +NM_000182.5:c.1023A>G NP_000173.2:p.Gly341= NC_000002.12:26209841:T:C p.(Gly341=) NC_000002.12:26209841:T:C p.(Gly341=) NC_000002.12:26209841:T:C Identity +NM_032043.3:c.2361A>C NP_114432.2:p.Pro787= NC_000017.11:61743030:T:G p.(Pro787=) NC_000017.11:61743030:T:G p.(Pro787=) NC_000017.11:61743030:T:G Identity +NM_001206524.2:c.1254T>C NP_001193453.1:p.Asp418= NC_000002.12:201217626:T:C p.(Asp418=) NC_000002.12:201217626:T:C p.(Asp418=) NC_000002.12:201217626:T:C Identity +LRG_391t1:c.40095A>G LRG_391p1:p.Glu13365= NC_000002.12:178647426:T:C ERR:Data provider error: ValueError: Transcript LRG_391t1 not found ERR:Data provider error: ValueError: Transcript LRG_391t1 not found ERR:AlignmentMapper(tx_ac=LRG_391t1, alt_ac=LRG_391t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_391t1, alt_ac=LRG_391t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_391t1 not found +NM_001256850.1:c.74646A>G NP_001243779.1:p.Val24882= NC_000002.12:178566562:T:C p.(Val24882=) NC_000002.12:178566562:T:C p.(Val24882=) NC_000002.12:178566562:T:C Identity +NM_000068.4:c.6696C>T NP_000059.3:p.Asp2232= NC_000019.10:13208857:G:A p.(Asp2232=) NC_000019.10:13208857:G:A p.(Asp2232=) NC_000019.10:13208857:G:A Identity +NM_001025107.3:c.1323C>G NP_001020278.1:p.Arg441= NC_000001.11:154596866:G:C p.(Arg441=) NC_000001.11:154596866:G:C p.(Arg441=) NC_000001.11:154596866:G:C Identity +NM_001256850.1:c.67338G>A NP_001243779.1:p.Leu22446= NC_000002.12:178573870:C:T p.(Leu22446=) NC_000002.12:178573870:C:T p.(Leu22446=) NC_000002.12:178573870:C:T Identity +NM_000448.3:c.2112C>T NP_000439.2:p.Ile704= NC_000011.10:36575415:C:T p.(Ile704=) NC_000011.10:36575415:C:T p.(Ile704=) NC_000011.10:36575415:C:T Identity +NM_001294332.2:c.567G>T NP_001281261.1:p.Leu189= NC_000005.10:228273:G:T p.(Leu189=) NC_000005.10:228273:G:T p.(Leu189=) NC_000005.10:228273:G:T Identity +NM_001135040.3:c.1974T>C NP_001128512.1:p.Ser658= NC_000002.12:74367845:A:G p.(Ser658=) NC_000002.12:74367845:A:G p.(Ser658=) NC_000002.12:74367845:A:G Identity +NM_001306090.2:c.1665C>T NP_001293019.1:p.Asp555= NC_000004.12:5783652:C:T p.(Asp555=) NC_000004.12:5783652:C:T p.(Asp555=) NC_000004.12:5783652:C:T Identity +NM_001352773.2:c.915C>A NP_001339702.1:p.Ile305= NC_000017.11:41765061:G:T p.(Ile305=) NC_000017.11:41765061:G:T p.(Ile305=) NC_000017.11:41765061:G:T Identity +NM_001349253.2:c.3748C>T NP_001336182.1:p.Leu1250= NC_000003.12:38871455:G:A p.(Leu1250=) NC_000003.12:38871455:G:A p.(Leu1250=) NC_000003.12:38871455:G:A Identity +NM_001244189.2:c.1089A>G NP_001231118.1:p.Pro363= NC_000014.9:58448461:A:G p.(Pro363=) NC_000014.9:58448461:A:G p.(Pro363=) NC_000014.9:58448461:A:G Identity +NM_001031804.3:c.823_834del NP_001026974.1:p.Asn275_Leu278del NC_000016.10:79599068:CAGCTGCCGGTTCAGCT:CAGCT p.(Asn275_Leu278del) NC_000016.10:79599068:CAGCTGCCGGTTCAGCT:CAGCT p.(Asn275_Leu278del) NC_000016.10:79599068:CAGCTGCCGGTT: Identity +NM_001256850.1:c.47160T>A NP_001243779.1:p.Pro15720= NC_000002.12:178609226:A:T p.(Pro15720=) NC_000002.12:178609226:A:T p.(Pro15720=) NC_000002.12:178609226:A:T Identity +NM_001005407.2:c.1017C>T NP_001005407.1:p.Asn339= NC_000016.10:1200468:C:T p.(Asn339=) NC_000016.10:1200468:C:T p.(Asn339=) NC_000016.10:1200468:C:T Identity +NM_000068.4:c.6608_6619dup NP_000059.3:p.Gly2206_Arg2207insGlnGluArgGly NC_000019.10:13208934:GGCCCCGCTCCTGG:GGCCCCGCTCCTGGCCCCGCTCCTGG p.(Gln2203_Gly2206dup) NC_000019.10:13208934:GGCCCCGCTCCTGG:GGCCCCGCTCCTGGCCCCGCTCCTGG p.(Gln2203_Gly2206dup) ERR:SPDI Analogous +NM_000068.4:c.3009C>T NP_000059.3:p.Gly1003= NC_000019.10:13298635:G:A p.(Gly1003=) NC_000019.10:13298635:G:A p.(Gly1003=) NC_000019.10:13298635:G:A Identity +NM_000448.3:c.2490A>G NP_000439.2:p.Lys830= NC_000011.10:36575793:A:G p.(Lys830=) NC_000011.10:36575793:A:G p.(Lys830=) NC_000011.10:36575793:A:G Identity +NM_001206524.2:c.576A>G NP_001193453.1:p.Lys192= NC_000002.12:201193117:A:G p.(Lys192=) NC_000002.12:201193117:A:G p.(Lys192=) NC_000002.12:201193117:A:G Identity +NM_000180.4:c.636C>T NP_000171.1:p.Val212= NC_000017.11:8003682:C:T p.(Val212=) NC_000017.11:8003682:C:T p.(Val212=) NC_000017.11:8003682:C:T Identity +NM_001294332.2:c.111T>C NP_001281261.1:p.Val37= NC_000005.10:223528:T:C p.(Val37=) NC_000005.10:223528:T:C p.(Val37=) NC_000005.10:223528:T:C Identity +NM_001256850.1:c.58638A>G NP_001243779.1:p.Arg19546= NC_000002.12:178587747:T:C p.(Arg19546=) NC_000002.12:178587747:T:C p.(Arg19546=) NC_000002.12:178587747:T:C Identity +NM_000414.4:c.1059G>T NP_000405.1:p.Ala353= NC_000005.10:119499402:G:T p.(Ala353=) NC_000005.10:119499402:G:T p.(Ala353=) NC_000005.10:119499402:G:T Identity +NM_000083.3:c.2499C>G NP_000074.3:p.Thr833= NC_000007.14:143350466:C:G p.(Thr833=) NC_000007.14:143350466:C:G p.(Thr833=) NC_000007.14:143350466:C:G Identity +NM_001111.5:c.741A>C NP_001102.3:p.Ala247= NC_000001.11:154601900:T:G p.(Ala247=) NC_000001.11:154601900:T:G p.(Ala247=) NC_000001.11:154601900:T:G Identity +NM_000263.4:c.855C>T NP_000254.2:p.Asp285= NC_000017.11:42541039:C:T p.(Asp285=) NC_000017.11:42541039:C:T p.(Asp285=) NC_000017.11:42541039:C:T Identity +NM_000069.3:c.474C>T NP_000060.2:p.Gly158= NC_000001.11:201092038:G:A p.(Gly158=) NC_000001.11:201092038:G:A p.(Gly158=) NC_000001.11:201092038:G:A Identity +NM_001130847.4:c.756C>T NP_001124319.1:p.Thr252= NC_000023.11:130140557:G:A p.(Thr252=) NC_000023.11:130140557:G:A p.(Thr252=) NC_000023.11:130140557:G:A Identity +NM_001365536.1:c.948T>C NP_001352465.1:p.Gly316= NC_000002.12:166294615:A:G p.(Gly316=) NC_000002.12:166294615:A:G p.(Gly316=) NC_000002.12:166294615:A:G Identity +NM_000448.3:c.741T>G NP_000439.2:p.Arg247= NC_000011.10:36574044:T:G p.(Arg247=) NC_000011.10:36574044:T:G p.(Arg247=) NC_000011.10:36574044:T:G Identity +NM_000158.4:c.1731C>T NP_000149.4:p.Tyr577= NC_000003.12:81536982:G:A p.(Tyr577=) NC_000003.12:81536982:G:A p.(Tyr577=) NC_000003.12:81536982:G:A Identity +NM_001145661.2:c.1027_1041del NP_001139133.1:p.Arg343_Thr347del NC_000003.12:128481920:GGTGCCGGCTCTTCTGG:GG p.(Arg343_Thr347del) NC_000003.12:128481920:GGTGCCGGCTCTTCTGG:GG p.(Arg343_Thr347del) NC_000003.12:128481920:GGTGCCGGCTCTTCT: Identity +NM_000052.7:c.360T>G NP_000043.4:p.Pro120= NC_000023.11:77988480:T:G p.(Pro120=) NC_000023.11:77988480:T:G p.(Pro120=) NC_000023.11:77988480:T:G Identity +NM_001267550.2:c.10464T>C NP_001254479.2:p.Val3488= NC_000002.12:178757755:A:G p.(Val3488=) NC_000002.12:178757755:A:G p.(Val3488=) NC_000002.12:178757755:A:G Identity +NM_000044.6:c.2289C>G NP_000035.2:p.Leu763= NC_000023.11:67717592:C:G p.(Leu763=) NC_000023.11:67717592:C:G p.(Leu763=) NC_000023.11:67717592:C:G Identity +NM_000044.6:c.300T>C NP_000035.2:p.His100= NC_000023.11:67545445:T:C p.(His100=) NC_000023.11:67545445:T:C p.(His100=) NC_000023.11:67545445:T:C Identity +NM_000182.5:c.882T>A NP_000173.2:p.Thr294= NC_000002.12:26214478:A:T p.(Thr294=) NC_000002.12:26214478:A:T p.(Thr294=) NC_000002.12:26214478:A:T Identity +NM_005373.3:c.459C>T NP_005364.1:p.Ser153= NC_000001.11:43339337:C:T p.(Ser153=) NC_000001.11:43339337:C:T p.(Ser153=) NC_000001.11:43339337:C:T Identity +NM_001172745.3:c.2073G>A NP_001166216.1:p.Leu691= NC_000020.11:18554314:G:A p.(Leu691=) NC_000020.11:18554314:G:A p.(Leu691=) NC_000020.11:18554314:G:A Identity +NM_001256896.2:c.195G>C NP_001243825.1:p.Leu65= NC_000004.12:3493110:G:C p.(Leu65=) NC_000004.12:3493110:G:C p.(Leu65=) NC_000004.12:3493110:G:C Identity +NM_001293557.2:c.2856G>A NP_001280486.1:p.Leu952= NC_000016.10:50725542:G:A p.(Leu952=) NC_000016.10:50725542:G:A p.(Leu952=) NC_000016.10:50725542:G:A Identity +NM_001256850.1:c.39633A>C NP_001243779.1:p.Pro13211= NC_000002.12:178624723:T:G p.(Pro13211=) NC_000002.12:178624723:T:G p.(Pro13211=) NC_000002.12:178624723:T:G Identity +NM_000112.4:c.1509_1514del NP_000103.2:p.Met504_Trp505del NC_000005.10:149981101:AATGTG: p.(Met504_Trp505del) NC_000005.10:149981101:AATGTG: p.(Met504_Trp505del) NC_000005.10:149981101:AATGTG: Identity +NM_001256850.1:c.89697C>T NP_001243779.1:p.Gly29899= NC_000002.12:178546807:G:A p.(Gly29899=) NC_000002.12:178546807:G:A p.(Gly29899=) NC_000002.12:178546807:G:A Identity +LRG_156t1:c.366G>A LRG_156p1:p.Lys122= NC_000012.12:109579940:G:A ERR:Data provider error: ValueError: Transcript LRG_156t1 not found ERR:Data provider error: ValueError: Transcript LRG_156t1 not found ERR:AlignmentMapper(tx_ac=LRG_156t1, alt_ac=LRG_156t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_156t1, alt_ac=LRG_156t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_156t1 not found +NM_005236.3:c.2691T>C NP_005227.1:p.Leu897= NC_000016.10:13948286:T:C p.(Leu897=) NC_000016.10:13948286:T:C p.(Leu897=) NC_000016.10:13948286:T:C Identity +NM_139058.3:c.1116C>A NP_620689.1:p.Val372= NC_000023.11:25010262:G:T p.(Val372=) NC_000023.11:25010262:G:T p.(Val372=) NC_000023.11:25010262:G:T Identity +NM_000112.4:c.1632C>A NP_000103.2:p.Leu544= NC_000005.10:149981224:C:A p.(Leu544=) NC_000005.10:149981224:C:A p.(Leu544=) NC_000005.10:149981224:C:A Identity +NM_000044.6:c.1503T>C NP_000035.2:p.Asp501= NC_000023.11:67546648:T:C p.(Asp501=) NC_000023.11:67546648:T:C p.(Asp501=) NC_000023.11:67546648:T:C Identity +NM_000161.3:c.93G>T NP_000152.1:p.Gly31= NC_000014.9:54902570:C:A p.(Gly31=) NC_000014.9:54902570:C:A p.(Gly31=) NC_000014.9:54902570:C:A Identity +NM_001293557.2:c.1572C>T NP_001280486.1:p.Gly524= NC_000016.10:50711563:C:T p.(Gly524=) NC_000016.10:50711563:C:T p.(Gly524=) NC_000016.10:50711563:C:T Identity +NM_001256850.1:c.69306T>G NP_001243779.1:p.Pro23102= NC_000002.12:178571902:A:C p.(Pro23102=) NC_000002.12:178571902:A:C p.(Pro23102=) NC_000002.12:178571902:A:C Identity +NM_002180.3:c.270C>T NP_002171.2:p.Gly90= NC_000011.10:68908157:C:T p.(Gly90=) NC_000011.10:68908157:C:T p.(Gly90=) NC_000011.10:68908157:C:T Identity +NM_000448.3:c.1231C>T NP_000439.2:p.Leu411= NC_000011.10:36574534:C:T p.(Leu411=) NC_000011.10:36574534:C:T p.(Leu411=) NC_000011.10:36574534:C:T Identity +NM_000404.4:c.1056C>T NP_000395.3:p.Asn352= NC_000003.12:33046131:G:A p.(Asn352=) NC_000003.12:33046131:G:A p.(Asn352=) NC_000003.12:33046131:G:A Identity +NM_000133.4:c.744T>A NP_000124.1:p.Val248= NC_000023.11:139560760:T:A p.(Val248=) NC_000023.11:139560760:T:A p.(Val248=) NC_000023.11:139560760:T:A Identity +NM_021007.3:c.2568A>G NP_066287.2:p.Arg856= NC_000002.12:165344559:A:G p.(Arg856=) NC_000002.12:165344559:A:G p.(Arg856=) NC_000002.12:165344559:A:G Identity +NM_001256850.1:c.26463T>G NP_001243779.1:p.Thr8821= NC_000002.12:178712507:A:C p.(Thr8821=) NC_000002.12:178712507:A:C p.(Thr8821=) NC_000002.12:178712507:A:C Identity +NM_001166280.2:c.351G>T NP_001159752.1:p.Val117= NC_000009.12:110687260:G:T p.(Val117=) NC_000009.12:110687260:G:T p.(Val117=) NC_000009.12:110687260:G:T Identity +NM_001256850.1:c.84207T>A NP_001243779.1:p.Ala28069= NC_000002.12:178553980:A:T p.(Ala28069=) NC_000002.12:178553980:A:T p.(Ala28069=) NC_000002.12:178553980:A:T Identity +NM_001256850.1:c.73101C>A NP_001243779.1:p.Val24367= NC_000002.12:178568107:G:T p.(Val24367=) NC_000002.12:178568107:G:T p.(Val24367=) NC_000002.12:178568107:G:T Identity +NM_001256850.1:c.39880C>T NP_001243779.1:p.Leu13294= NC_000002.12:178624476:G:A p.(Leu13294=) NC_000002.12:178624476:G:A p.(Leu13294=) NC_000002.12:178624476:G:A Identity +NM_001267550.2:c.10734C>T NP_001254479.2:p.Ser3578= NC_000002.12:178756741:G:A p.(Ser3578=) NC_000002.12:178756741:G:A p.(Ser3578=) NC_000002.12:178756741:G:A Identity +NM_001256850.1:c.53205A>G NP_001243779.1:p.Pro17735= NC_000002.12:178594365:T:C p.(Pro17735=) NC_000002.12:178594365:T:C p.(Pro17735=) NC_000002.12:178594365:T:C Identity +NM_000329.3:c.174C>T NP_000320.1:p.Tyr58= NC_000001.11:68446780:G:A p.(Tyr58=) NC_000001.11:68446780:G:A p.(Tyr58=) NC_000001.11:68446780:G:A Identity +NM_000263.4:c.1122C>A NP_000254.2:p.Pro374= NC_000017.11:42543127:C:A p.(Pro374=) NC_000017.11:42543127:C:A p.(Pro374=) NC_000017.11:42543127:C:A Identity +NM_139058.3:c.1083G>C NP_620689.1:p.Leu361= NC_000023.11:25010295:C:G p.(Leu361=) NC_000023.11:25010295:C:G p.(Leu361=) NC_000023.11:25010295:C:G Identity +NM_000158.4:c.1068T>C NP_000149.4:p.Phe356= NC_000003.12:81593947:A:G p.(Phe356=) NC_000003.12:81593947:A:G p.(Phe356=) NC_000003.12:81593947:A:G Identity +NM_022168.4:c.1323C>T NP_071451.2:p.Ile441= NC_000002.12:162281528:G:A p.(Ile441=) NC_000002.12:162281528:G:A p.(Ile441=) NC_000002.12:162281528:G:A Identity +NM_001256850.1:c.76479A>T NP_001243779.1:p.Thr25493= NC_000002.12:178564729:T:A p.(Thr25493=) NC_000002.12:178564729:T:A p.(Thr25493=) NC_000002.12:178564729:T:A Identity +NM_000388.4:c.2475T>C NP_000379.3:p.Tyr825= NC_000003.12:122284428:T:C p.(Tyr825=) NC_000003.12:122284428:T:C p.(Tyr825=) NC_000003.12:122284428:T:C Identity +NM_001172745.3:c.450C>T NP_001166216.1:p.Ser150= NC_000020.11:18524515:C:T p.(Ser150=) NC_000020.11:18524515:C:T p.(Ser150=) NC_000020.11:18524515:C:T Identity +NM_001035512.3:c.150T>C NP_001030589.1:p.Leu50= NC_000001.11:161356686:T:C p.(Leu50=) NC_000001.11:161356686:T:C p.(Leu50=) NC_000001.11:161356686:T:C Identity +NM_000448.3:c.3084A>T NP_000439.2:p.Pro1028= NC_000011.10:36576387:A:T p.(Pro1028=) NC_000011.10:36576387:A:T p.(Pro1028=) NC_000011.10:36576387:A:T Identity +NM_000182.5:c.384G>A NP_000173.2:p.Glu128= NC_000002.12:26234285:C:T p.(Glu128=) NC_000002.12:26234285:C:T p.(Glu128=) NC_000002.12:26234285:C:T Identity +NM_000475.5:c.582G>T NP_000466.2:p.Ala194= NC_000023.11:30308781:C:A p.(Ala194=) NC_000023.11:30308781:C:A p.(Ala194=) NC_000023.11:30308781:C:A Identity +NM_000431.4:c.319C>T NP_000422.1:p.Leu107= NC_000012.12:109579893:C:T p.(Leu107=) NC_000012.12:109579893:C:T p.(Leu107=) NC_000012.12:109579893:C:T Identity +NM_001077365.2:c.435T>A NP_001070833.1:p.Ala145= NC_000009.12:131508917:T:A p.(Ala145=) NC_000009.12:131508917:T:A p.(Ala145=) NC_000009.12:131508917:T:A Identity +NM_002180.3:c.636C>A NP_002171.2:p.Ile212= NC_000011.10:68911527:C:A p.(Ile212=) NC_000011.10:68911527:C:A p.(Ile212=) NC_000011.10:68911527:C:A Identity +NM_001025107.3:c.1383C>G NP_001020278.1:p.Pro461= NC_000001.11:154596806:G:C p.(Pro461=) NC_000001.11:154596806:G:C p.(Pro461=) NC_000001.11:154596806:G:C Identity +NM_001143905.2:c.423G>A NP_001137377.1:p.Arg141= NC_000012.12:123256952:G:A p.(Arg141=) NC_000012.12:123256952:G:A p.(Arg141=) NC_000012.12:123256952:G:A Identity +NM_015512.5:c.2448C>T NP_056327.4:p.Ser816= NC_000003.12:52349341:C:T p.(Ser816=) NC_000003.12:52349341:C:T p.(Ser816=) NC_000003.12:52349341:C:T Identity +NM_000089.4:c.2038_2055dup NP_000080.2:p.Gly685_Pro686insAlaValGlyAlaProGly NC_000007.14:94419503:CCTGGTGCTGTAGGTGCCCCTGGT:CCTGGTGCTGTAGGTGCCCCTGGTGCTGTAGGTGCCCCTGGT p.(Ala680_Gly685dup) NC_000007.14:94419503:CCTGGTGCTGTAGGTGCCCCTGGT:CCTGGTGCTGTAGGTGCCCCTGGTGCTGTAGGTGCCCCTGGT p.(Ala680_Gly685dup) ERR:SPDI Analogous +NM_018848.3:c.1380T>C NP_061336.1:p.Ser460= NC_000020.11:10405579:A:G p.(Ser460=) NC_000020.11:10405579:A:G p.(Ser460=) NC_000020.11:10405579:A:G Identity +NM_001042663.3:c.2607C>T NP_001036128.2:p.Ala869= NC_000001.11:6468339:G:A p.(Ala869=) NC_000001.11:6468339:G:A p.(Ala869=) NC_000001.11:6468339:G:A Identity +NM_000180.4:c.2076A>G NP_000171.1:p.Glu692= NC_000017.11:8012568:A:G p.(Glu692=) NC_000017.11:8012568:A:G p.(Glu692=) NC_000017.11:8012568:A:G Identity +NM_005373.3:c.417C>T NP_005364.1:p.Ile139= NC_000001.11:43339295:C:T p.(Ile139=) NC_000001.11:43339295:C:T p.(Ile139=) NC_000001.11:43339295:C:T Identity +NM_000180.4:c.1092G>T NP_000171.1:p.Ala364= NC_000017.11:8006427:G:T p.(Ala364=) NC_000017.11:8006427:G:T p.(Ala364=) NC_000017.11:8006427:G:T Identity +NM_001256850.1:c.80688A>C NP_001243779.1:p.Leu26896= NC_000002.12:178560520:T:G p.(Leu26896=) NC_000002.12:178560520:T:G p.(Leu26896=) NC_000002.12:178560520:T:G Identity +NM_001127487.2:c.5581C>T NP_001120959.1:p.Leu1861= NC_000007.14:128851465:C:T p.(Leu1861=) NC_000007.14:128851465:C:T p.(Leu1861=) NC_000007.14:128851465:C:T Identity +NM_001007565.2:c.597T>C NP_001007566.1:p.Pro199= NC_000003.12:100736591:T:C p.(Pro199=) NC_000003.12:100736591:T:C p.(Pro199=) NC_000003.12:100736591:T:C Identity +NM_001256850.1:c.96219C>A NP_001243779.1:p.Ala32073= NC_000002.12:178535472:G:T p.(Ala32073=) NC_000002.12:178535472:G:T p.(Ala32073=) NC_000002.12:178535472:G:T Identity +NM_002180.3:c.1287G>A NP_002171.2:p.Glu429= NC_000011.10:68933349:G:A p.(Glu429=) NC_000011.10:68933349:G:A p.(Glu429=) NC_000011.10:68933349:G:A Identity +NM_001172745.3:c.954T>C NP_001166216.1:p.Ile318= NC_000020.11:18526491:T:C p.(Ile318=) NC_000020.11:18526491:T:C p.(Ile318=) NC_000020.11:18526491:T:C Identity +NM_001005407.2:c.4614C>T NP_001005407.1:p.Phe1538= NC_000016.10:1211992:C:T p.(Phe1538=) NC_000016.10:1211992:C:T p.(Phe1538=) NC_000016.10:1211992:C:T Identity +NM_000404.4:c.1225del NP_000395.3:p.Gln408_Val409insTer NC_000003.12:33021573:CC:C p.(Val409Ter) NC_000003.12:33021573:CC:C p.(Val409Ter) NC_000003.12:33021573:C: Analogous +NM_001172745.3:c.408C>T NP_001166216.1:p.Asp136= NC_000020.11:18524473:C:T p.(Asp136=) NC_000020.11:18524473:C:T p.(Asp136=) NC_000020.11:18524473:C:T Identity +NM_000448.3:c.291A>C NP_000439.2:p.Ala97= NC_000011.10:36573594:A:C p.(Ala97=) NC_000011.10:36573594:A:C p.(Ala97=) NC_000011.10:36573594:A:C Identity +NM_001005407.2:c.1951T>C NP_001005407.1:p.Leu651= NC_000016.10:1202400:T:C p.(Leu651=) NC_000016.10:1202400:T:C p.(Leu651=) NC_000016.10:1202400:T:C Identity +NM_000329.3:c.1230A>C NP_000320.1:p.Ser410= NC_000001.11:68431483:T:G p.(Ser410=) NC_000001.11:68431483:T:G p.(Ser410=) NC_000001.11:68431483:T:G Identity +NM_001256850.1:c.25923C>T NP_001243779.1:p.Ser8641= NC_000002.12:178713259:G:A p.(Ser8641=) NC_000002.12:178713259:G:A p.(Ser8641=) NC_000002.12:178713259:G:A Identity +NM_000388.4:c.462A>T NP_000379.3:p.Ala154= NC_000003.12:122257356:A:T p.(Ala154=) NC_000003.12:122257356:A:T p.(Ala154=) NC_000003.12:122257356:A:T Identity +NM_005045.4:c.8118A>G NP_005036.2:p.Ser2706= NC_000007.14:103515185:T:C p.(Ser2706=) NC_000007.14:103515185:T:C p.(Ser2706=) NC_000007.14:103515185:T:C Identity +NM_001256850.1:c.28020G>C NP_001243779.1:p.Ser9340= NC_000002.12:178707595:C:G p.(Ser9340=) NC_000002.12:178707595:C:G p.(Ser9340=) NC_000002.12:178707595:C:G Identity +NM_001193640.2:c.3012C>T NP_001180569.1:p.Phe1004= NC_000001.11:197435210:C:T p.(Phe1004=) NC_000001.11:197435210:C:T p.(Phe1004=) NC_000001.11:197435210:C:T Identity +NM_000044.6:c.1959T>G NP_000035.2:p.Thr653= NC_000023.11:67711474:T:G p.(Thr653=) NC_000023.11:67711474:T:G p.(Thr653=) NC_000023.11:67711474:T:G Identity +NM_001166280.2:c.795G>A NP_001159752.1:p.Gly265= NC_000009.12:110747651:G:A p.(Gly265=) NC_000009.12:110747651:G:A p.(Gly265=) NC_000009.12:110747651:G:A Identity +NM_032043.3:c.3750A>G NP_114432.2:p.Ter1250= NC_000017.11:61683295:T:C p.(Ter1250=) NC_000017.11:61683295:T:C p.(Ter1250Ter) NC_000017.11:61683295:T:C Identity +NM_001127487.2:c.4257C>A NP_001120959.1:p.Val1419= NC_000007.14:128846873:C:A p.(Val1419=) NC_000007.14:128846873:C:A p.(Val1419=) NC_000007.14:128846873:C:A Identity +NM_005045.4:c.7365T>C NP_005036.2:p.Arg2455= NC_000007.14:103523515:A:G p.(Arg2455=) NC_000007.14:103523515:A:G p.(Arg2455=) NC_000007.14:103523515:A:G Identity +NM_001256850.1:c.90555T>A NP_001243779.1:p.Ile30185= NC_000002.12:178545631:A:T p.(Ile30185=) NC_000002.12:178545631:A:T p.(Ile30185=) NC_000002.12:178545631:A:T Identity +NM_001256850.1:c.93756A>G NP_001243779.1:p.Pro31252= NC_000002.12:178539385:T:C p.(Pro31252=) NC_000002.12:178539385:T:C p.(Pro31252=) NC_000002.12:178539385:T:C Identity +NM_000388.4:c.1149G>A NP_000379.3:p.Arg383= NC_000003.12:122262183:G:A p.(Arg383=) NC_000003.12:122262183:G:A p.(Arg383=) NC_000003.12:122262183:G:A Identity +NM_002180.3:c.1416G>A NP_002171.2:p.Leu472= NC_000011.10:68933478:G:A p.(Leu472=) NC_000011.10:68933478:G:A p.(Leu472=) NC_000011.10:68933478:G:A Identity +NM_001352773.2:c.57A>G NP_001339702.1:p.Thr19= NC_000017.11:41771797:T:C p.(Thr19=) NC_000017.11:41771797:T:C p.(Thr19=) NC_000017.11:41771797:T:C Identity +NM_033071.5:c.22143G>A NP_149062.2:p.Gln7381= NC_000006.12:152213749:C:T p.(Gln7381=) NC_000006.12:152213749:C:T p.(Gln7381=) NC_000006.12:152213749:C:T Identity +NM_139058.3:c.1095G>C NP_620689.1:p.Leu365= NC_000023.11:25010283:C:G p.(Leu365=) NC_000023.11:25010283:C:G p.(Leu365=) NC_000023.11:25010283:C:G Identity +NM_000448.3:c.2076T>C NP_000439.2:p.Leu692= NC_000011.10:36575379:T:C p.(Leu692=) NC_000011.10:36575379:T:C p.(Leu692=) NC_000011.10:36575379:T:C Identity +NM_015512.5:c.9468C>T NP_056327.4:p.Gly3156= NC_000003.12:52388909:C:T p.(Gly3156=) NC_000003.12:52388909:C:T p.(Gly3156=) NC_000003.12:52388909:C:T Identity +NM_001256850.1:c.47023C>T NP_001243779.1:p.Leu15675= NC_000002.12:178609363:G:A p.(Leu15675=) NC_000002.12:178609363:G:A p.(Leu15675=) NC_000002.12:178609363:G:A Identity +NM_001127649.3:c.163C>T NP_001121121.1:p.Leu55= NC_000022.11:18078538:C:T p.(Leu55=) NC_000022.11:18078538:C:T p.(Leu55=) NC_000022.11:18078538:C:T Identity +NM_001256850.1:c.85071G>C NP_001243779.1:p.Ser28357= NC_000002.12:178552905:C:G p.(Ser28357=) NC_000002.12:178552905:C:G p.(Ser28357=) NC_000002.12:178552905:C:G Identity +NM_000378.6:c.1458C>G NP_000369.4:p.Arg486= NC_000011.10:32389108:G:C p.(Arg486=) NC_000011.10:32389108:G:C p.(Arg486=) NC_000011.10:32389108:G:C Identity +NM_001040142.2:c.4797T>C NP_001035232.1:p.Phe1599= NC_000002.12:165386990:T:C p.(Phe1599=) NC_000002.12:165386990:T:C p.(Phe1599=) NC_000002.12:165386990:T:C Identity +NM_001127487.2:c.2190_2192del NP_001120959.1:p.Tyr730_Val731delinsTer NC_000007.14:128842298:CGT: p.(Tyr730Ter) NC_000007.14:128842298:CGT: p.(Tyr730Ter) NC_000007.14:128842298:CGT: Analogous +NM_000089.4:c.2088T>A NP_000080.2:p.Ala696= NC_000007.14:94420240:T:A p.(Ala696=) NC_000007.14:94420240:T:A p.(Ala696=) NC_000007.14:94420240:T:A Identity +NM_001135040.3:c.654G>T NP_001128512.1:p.Arg218= NC_000002.12:74371107:C:A p.(Arg218=) NC_000002.12:74371107:C:A p.(Arg218=) NC_000002.12:74371107:C:A Identity +NM_007248.5:c.348T>C NP_009179.2:p.Gly116= NC_000003.12:48467032:T:C p.(Gly116=) NC_000003.12:48467032:T:C p.(Gly116=) NC_000003.12:48467032:T:C Identity +NM_001035512.3:c.291G>A NP_001030589.1:p.Gly97= NC_000001.11:161356827:G:A p.(Gly97=) NC_000001.11:161356827:G:A p.(Gly97=) NC_000001.11:161356827:G:A Identity +NM_000414.4:c.657A>G NP_000405.1:p.Ala219= NC_000005.10:119489225:A:G p.(Ala219=) NC_000005.10:119489225:A:G p.(Ala219=) NC_000005.10:119489225:A:G Identity +NM_033071.5:c.13785C>G NP_149062.2:p.Val4595= NC_000006.12:152330686:G:C p.(Val4595=) NC_000006.12:152330686:G:C p.(Val4595=) NC_000006.12:152330686:G:C Identity +NM_001256850.1:c.99849A>T NP_001243779.1:p.Ser33283= NC_000002.12:178531842:T:A p.(Ser33283=) NC_000002.12:178531842:T:A p.(Ser33283=) NC_000002.12:178531842:T:A Identity +NM_001256850.1:c.13923T>C NP_001243779.1:p.Tyr4641= NC_000002.12:178735571:A:G p.(Tyr4641=) NC_000002.12:178735571:A:G p.(Tyr4641=) NC_000002.12:178735571:A:G Identity +NM_000448.3:c.2910G>A NP_000439.2:p.Leu970= NC_000011.10:36576213:G:A p.(Leu970=) NC_000011.10:36576213:G:A p.(Leu970=) NC_000011.10:36576213:G:A Identity +NM_001256850.1:c.48198C>G NP_001243779.1:p.Thr16066= NC_000002.12:178607566:G:C p.(Thr16066=) NC_000002.12:178607566:G:C p.(Thr16066=) NC_000002.12:178607566:G:C Identity +NM_003900.5:c.9G>A NP_003891.1:p.Ser3= NC_000005.10:179820944:G:A p.(Ser3=) NC_000005.10:179820944:G:A p.(Ser3=) NC_000005.10:179820944:G:A Identity +NM_032043.3:c.327C>T NP_114432.2:p.Asn109= NC_000017.11:61857109:G:A p.(Asn109=) NC_000017.11:61857109:G:A p.(Asn109=) NC_000017.11:61857109:G:A Identity +NM_000404.4:c.279A>G NP_000395.3:p.Pro93= NC_000003.12:33068936:T:C p.(Pro93=) NC_000003.12:33068936:T:C p.(Pro93=) NC_000003.12:33068936:T:C Identity +NM_139058.3:c.312G>C NP_620689.1:p.Ala104= NC_000023.11:25013682:C:G p.(Ala104=) NC_000023.11:25013682:C:G p.(Ala104=) NC_000023.11:25013682:C:G Identity +NM_001256850.1:c.78888T>C NP_001243779.1:p.Ala26296= NC_000002.12:178562320:A:G p.(Ala26296=) NC_000002.12:178562320:A:G p.(Ala26296=) NC_000002.12:178562320:A:G Identity +NM_000377.3:c.810G>T NP_000368.1:p.Leu270= NC_000023.11:48688331:G:T p.(Leu270=) NC_000023.11:48688331:G:T p.(Leu270=) NC_000023.11:48688331:G:T Identity +NM_001206729.2:c.1395_1398dup NP_001193658.1:p.Lys465_Ter466= NC_000001.11:243499742:TTATTT:TTATTTATTT p.(Lys465_Ter466=) NC_000001.11:243499742:TTATTT:TTATTTATTT p.(=) ERR:SPDI Identity +NM_000112.4:c.1458C>A NP_000103.2:p.Ile486= NC_000005.10:149981050:C:A p.(Ile486=) NC_000005.10:149981050:C:A p.(Ile486=) NC_000005.10:149981050:C:A Identity +NM_001256850.1:c.8811G>A NP_001243779.1:p.Gln2937= NC_000002.12:178769769:C:T p.(Gln2937=) NC_000002.12:178769769:C:T p.(Gln2937=) NC_000002.12:178769769:C:T Identity +NM_001256850.1:c.94623A>G NP_001243779.1:p.Val31541= NC_000002.12:178537660:T:C p.(Val31541=) NC_000002.12:178537660:T:C p.(Val31541=) NC_000002.12:178537660:T:C Identity +NM_001293557.2:c.2649A>G NP_001280486.1:p.Arg883= NC_000016.10:50722636:A:G p.(Arg883=) NC_000016.10:50722636:A:G p.(Arg883=) NC_000016.10:50722636:A:G Identity +NM_001363227.2:c.186T>A NP_001350156.1:p.Leu62= NC_000008.11:43147014:T:A p.(Leu62=) NC_000008.11:43147014:T:A p.(Leu62=) NC_000008.11:43147014:T:A Identity +NM_001363227.2:c.1779G>A NP_001350156.1:p.Lys593= NC_000008.11:43197917:G:A p.(Lys593=) NC_000008.11:43197917:G:A p.(Lys593=) NC_000008.11:43197917:G:A Identity +NM_000044.6:c.1281C>T NP_000035.2:p.Pro427= NC_000023.11:67546426:C:T p.(Pro427=) NC_000023.11:67546426:C:T p.(Pro427=) NC_000023.11:67546426:C:T Identity +NM_000052.7:c.2559A>C NP_000043.4:p.Gly853= NC_000023.11:78015813:A:C p.(Gly853=) NC_000023.11:78015813:A:C p.(Gly853=) NC_000023.11:78015813:A:C Identity +NM_001017423.2:c.2142T>C NP_001017423.1:p.Ser714= NC_000010.11:95610254:A:G p.(Ser714=) NC_000010.11:95610254:A:G p.(Ser714=) NC_000010.11:95610254:A:G Identity +NM_001256850.1:c.32157T>A NP_001243779.1:p.Pro10719= NC_000002.12:178681724:A:T p.(Pro10719=) NC_000002.12:178681724:A:T p.(Pro10719=) NC_000002.12:178681724:A:T Identity +NM_001037343.2:c.1164C>T NP_001032420.1:p.Ser388= NC_000023.11:18604087:C:T p.(Ser388=) NC_000023.11:18604087:C:T p.(Ser388=) NC_000023.11:18604087:C:T Identity +NM_001040142.2:c.2049A>G NP_001035232.1:p.Arg683= NC_000002.12:165326883:A:G p.(Arg683=) NC_000002.12:165326883:A:G p.(Arg683=) NC_000002.12:165326883:A:G Identity +NM_001814.6:c.393C>T NP_001805.4:p.Gly131= NC_000011.10:88312479:G:A p.(Gly131=) NC_000011.10:88312479:G:A p.(Gly131=) NC_000011.10:88312479:G:A Identity +NM_000814.6:c.456G>A NP_000805.1:p.Gly152= NC_000015.10:26621318:C:T p.(Gly152=) NC_000015.10:26621318:C:T p.(Gly152=) NC_000015.10:26621318:C:T Identity +NM_001166136.2:c.2379C>G NP_001159608.1:p.Ala793= NC_000004.12:5618564:G:C p.(Ala793=) NC_000004.12:5618564:G:C p.(Ala793=) NC_000004.12:5618564:G:C Identity +NM_001350246.2:c.984G>A NP_001337175.1:p.Arg328= NC_000001.11:243426459:G:A p.(Arg328=) NC_000001.11:243426459:G:A p.(Arg328=) NC_000001.11:243426459:G:A Identity +NM_001005407.2:c.2415C>T NP_001005407.1:p.Val805= NC_000016.10:1204421:C:T p.(Val805=) NC_000016.10:1204421:C:T p.(Val805=) NC_000016.10:1204421:C:T Identity +NM_000445.5:c.3840C>A NP_000436.2:p.Ala1280= NC_000008.11:143927332:G:T p.(Ala1280=) NC_000008.11:143927332:G:T p.(Ala1280=) NC_000008.11:143927332:G:T Identity +NM_001256850.1:c.75330C>A NP_001243779.1:p.Ala25110= NC_000002.12:178565878:G:T p.(Ala25110=) NC_000002.12:178565878:G:T p.(Ala25110=) NC_000002.12:178565878:G:T Identity +NM_001193640.2:c.2625A>G NP_001180569.1:p.Val875= NC_000001.11:197434823:A:G p.(Val875=) NC_000001.11:197434823:A:G p.(Val875=) NC_000001.11:197434823:A:G Identity +NM_014244.5:c.874C>T NP_055059.2:p.Leu292= NC_000005.10:179207529:G:A p.(Leu292=) NC_000005.10:179207529:G:A p.(Leu292=) NC_000005.10:179207529:G:A Identity +NM_000540.3:c.12381C>T NP_000531.2:p.Phe4127= NC_000019.10:38561210:C:T p.(Phe4127=) NC_000019.10:38561210:C:T p.(Phe4127=) NC_000019.10:38561210:C:T Identity +NM_005630.3:c.1347G>A NP_005621.2:p.Ser449= NC_000003.12:133945208:C:T p.(Ser449=) NC_000003.12:133945208:C:T p.(Ser449=) NC_000003.12:133945208:C:T Identity +NM_001039141.3:c.5328T>C NP_001034230.1:p.Asp1776= NC_000022.11:37751776:T:C p.(Asp1776=) NC_000022.11:37751776:T:C p.(Asp1776=) NC_000022.11:37751776:T:C Identity +NM_145059.3:c.1953G>A NP_659496.2:p.Glu651= NC_000016.10:70474303:G:A p.(Glu651=) NC_000016.10:70474303:G:A p.(Glu651=) NC_000016.10:70474303:G:A Identity +NM_020166.5:c.75G>A NP_064551.3:p.Leu25= NC_000003.12:183099365:C:T p.(Leu25=) NC_000003.12:183099365:C:T p.(Leu25=) NC_000003.12:183099365:C:T Identity +NM_001001396.3:c.1995C>T NP_001001396.1:p.Ile665= NC_000001.11:203711071:C:T p.(Ile665=) NC_000001.11:203711071:C:T p.(Ile665=) NC_000001.11:203711071:C:T Identity +NM_199242.3:c.2931A>G NP_954712.1:p.Pro977= NC_000017.11:75830050:T:C p.(Pro977=) NC_000017.11:75830050:T:C p.(Pro977=) NC_000017.11:75830050:T:C Identity +NM_001384732.1:c.5190A>G NP_001371661.1:p.Gln1730= NC_000005.10:37182990:T:C p.(Gln1730=) NC_000005.10:37182990:T:C p.(Gln1730=) NC_000005.10:37182990:T:C Identity +NM_001081.4:c.6504C>A NP_001072.2:p.Pro2168= NC_000010.11:16925382:G:T p.(Pro2168=) NC_000010.11:16925382:G:T p.(Pro2168=) NC_000010.11:16925382:G:T Identity +NM_000285.4:c.564G>A NP_000276.2:p.Thr188= NC_000019.10:33464046:C:T p.(Thr188=) NC_000019.10:33464046:C:T p.(Thr188=) NC_000019.10:33464046:C:T Identity +NM_002444.3:c.834G>A NP_002435.1:p.Lys278= NC_000023.11:65735304:G:A p.(Lys278=) NC_000023.11:65735304:G:A p.(Lys278=) NC_000023.11:65735304:G:A Identity +NM_001317184.2:c.2465A>G NP_001304113.1:p.Ter822Trp NC_000016.10:68833497:A:G p.(Ter822TrpextTer29) NC_000016.10:68833497:A:G p.(Ter822TrpextTer29) NC_000016.10:68833497:A:G Analogous +NM_001080463.2:c.3414A>G NP_001073932.1:p.Gln1138= NC_000011.10:103154561:A:G p.(Gln1138=) NC_000011.10:103154561:A:G p.(Gln1138=) NC_000011.10:103154561:A:G Identity +NM_000165.5:c.219T>C NP_000156.1:p.Ser73= NC_000006.12:121447065:T:C p.(Ser73=) NC_000006.12:121447065:T:C p.(Ser73=) NC_000006.12:121447065:T:C Identity +NM_001252678.2:c.738G>C NP_001239607.1:p.Val246= NC_000015.10:72736766:G:C p.(Val246=) NC_000015.10:72736766:G:C p.(Val246=) NC_000015.10:72736766:G:C Identity +NM_001083614.2:c.324G>A NP_001077083.1:p.Arg108= NC_000016.10:23544674:C:T p.(Arg108=) NC_000016.10:23544674:C:T p.(Arg108=) NC_000016.10:23544674:C:T Identity +NM_001369614.1:c.588G>A NP_001356543.1:p.Leu196= NC_000017.11:38736158:C:T p.(Leu196=) NC_000017.11:38736158:C:T p.(Leu196=) NC_000017.11:38736158:C:T Identity +NM_001301834.1:c.177G>A NP_001288763.1:p.Thr59= NC_000012.12:6944599:G:A p.(Thr59=) NC_000012.12:6944599:G:A p.(Thr59=) NC_000012.12:6944599:G:A Identity +NM_014510.3:c.12429T>C NP_055325.2:p.Ala4143= NC_000007.14:82915556:A:G p.(Ala4143=) NC_000007.14:82915556:A:G p.(Ala4143=) NC_000007.14:82915556:A:G Identity +NM_000104.4:c.1563T>G NP_000095.2:p.Thr521= NC_000002.12:38070790:A:C p.(Thr521=) NC_000002.12:38070790:A:C p.(Thr521=) NC_000002.12:38070790:A:C Identity +NM_001846.4:c.2682C>T NP_001837.2:p.Phe894= NC_000013.11:110480313:C:T p.(Phe894=) NC_000013.11:110480313:C:T p.(Phe894=) NC_000013.11:110480313:C:T Identity +NM_016239.4:c.2046G>A NP_057323.3:p.Pro682= NC_000017.11:18120845:G:A p.(Pro682=) NC_000017.11:18120845:G:A p.(Pro682=) NC_000017.11:18120845:G:A Identity +NM_001567.4:c.1893C>T NP_001558.3:p.Leu631= NC_000011.10:72232915:C:T p.(Leu631=) NC_000011.10:72232915:C:T p.(Leu631=) NC_000011.10:72232915:C:T Identity +NM_003235.5:c.4851C>A NP_003226.4:p.Thr1617= NC_000008.11:132933594:C:A p.(Thr1617=) NC_000008.11:132933594:C:A p.(Thr1617=) NC_000008.11:132933594:C:A Identity +NM_003188.4:c.21CTC[7] NP_003179.1:p.Ser14_Ala15insSerSer NC_000006.12:90586848:GAGGAGGAGGAGGAGG:GAGGAGGAGGAGGAGGAGGAGG p.(Ser13_Ser14dup) NC_000006.12:90586862:G:GAGGAGGAGGAGGAGGAGGAG ERR:Parse ERR:Parse Analogous +NM_001315529.2:c.8814G>A NP_001302458.1:p.Leu2938= NC_000021.9:46440865:G:A p.(Leu2938=) NC_000021.9:46440865:G:A p.(Leu2938=) NC_000021.9:46440865:G:A Identity +NM_001288705.3:c.186T>C NP_001275634.1:p.Ser62= NC_000005.10:150080887:A:G p.(Ser62=) NC_000005.10:150080887:A:G p.(Ser62=) NC_000005.10:150080887:A:G Identity +NM_001089.3:c.396C>T NP_001080.2:p.Ala132= NC_000016.10:2324454:G:A p.(Ala132=) NC_000016.10:2324454:G:A p.(Ala132=) NC_000016.10:2324454:G:A Identity +NM_001170629.2:c.648C>T NP_001164100.1:p.Ser216= NC_000014.9:21430995:G:A p.(Ser216=) NC_000014.9:21430995:G:A p.(Ser216=) NC_000014.9:21430995:G:A Identity +NM_001291415.2:c.39_41dup NP_001278344.1:p.Ala17_Phe18insAla NC_000023.11:44873587:GCTGC:GCTGCTGC p.(Ala17dup) NC_000023.11:44873587:GCTGC:GCTGCTGC p.(Ala17dup) ERR:SPDI Analogous +NM_001146702.2:c.3166C>T NP_001140174.1:p.Leu1056= NC_000023.11:53195001:G:A p.(Leu1056=) NC_000023.11:53195001:G:A p.(Leu1056=) NC_000023.11:53195001:G:A Identity +NM_006517.5:c.1347C>T NP_006508.2:p.Gly449= NC_000023.11:74529388:C:T p.(Gly449=) NC_000023.11:74529388:C:T p.(Gly449=) NC_000023.11:74529388:C:T Identity +NM_139057.4:c.1293C>T NP_620688.2:p.Cys431= NC_000015.10:100155208:G:A p.(Cys431=) NC_000015.10:100155208:G:A p.(Cys431=) NC_000015.10:100155208:G:A Identity +NM_001318245.2:c.2166G>A NP_001305174.1:p.Ser722= NC_000022.11:25780152:G:A p.(Ser722=) NC_000022.11:25780152:G:A p.(Ser722=) NC_000022.11:25780152:G:A Identity +NM_001145473.3:c.1410C>A NP_001138945.1:p.Gly470= NC_000018.10:46477600:G:T p.(Gly470=) NC_000018.10:46477600:G:T p.(Gly470=) NC_000018.10:46477600:G:T Identity +NM_031935.3:c.11463T>A NP_114141.2:p.Thr3821= NC_000001.11:186115315:T:A p.(Thr3821=) NC_000001.11:186115315:T:A p.(Thr3821=) NC_000001.11:186115315:T:A Identity +NM_001282656.2:c.1644T>C NP_001269585.1:p.Ser548= NC_000011.10:9516322:T:C p.(Ser548=) NC_000011.10:9516322:T:C p.(Ser548=) NC_000011.10:9516322:T:C Identity +NM_001244580.2:c.2679T>C NP_001231509.1:p.Arg893= NC_000007.14:98921808:T:C p.(Arg893=) NC_000007.14:98921808:T:C p.(Arg893=) NC_000007.14:98921808:T:C Identity +NM_003038.5:c.199C>T NP_003029.2:p.Leu67= NC_000002.12:64989841:C:T p.(Leu67=) NC_000002.12:64989841:C:T p.(Leu67=) NC_000002.12:64989841:C:T Identity +NM_001146289.2:c.171C>T NP_001139761.1:p.Ser57= NC_000001.11:42766800:G:A p.(Ser57=) NC_000001.11:42766800:G:A p.(Ser57=) NC_000001.11:42766800:G:A Identity +NM_001063.4:c.561C>T NP_001054.2:p.Pro187= NC_000003.12:133755420:C:T p.(Pro187=) NC_000003.12:133755420:C:T p.(Pro187=) NC_000003.12:133755420:C:T Identity +NM_001098268.2:c.480T>A NP_001091738.1:p.Ser160= NC_000013.11:108210788:A:T p.(Ser160=) NC_000013.11:108210788:A:T p.(Ser160=) NC_000013.11:108210788:A:T Identity +NM_000293.3:c.2175C>T NP_000284.1:p.His725= NC_000016.10:47660797:C:T p.(His725=) NC_000016.10:47660797:C:T p.(His725=) NC_000016.10:47660797:C:T Identity +NM_001270949.2:c.576G>A NP_001257878.1:p.Ala192= NC_000018.10:62360008:G:A p.(Ala192=) NC_000018.10:62360008:G:A p.(Ala192=) NC_000018.10:62360008:G:A Identity +NM_001018037.2:c.6558A>G NP_001018047.1:p.Leu2186= NC_000009.12:77339811:A:G p.(Leu2186=) NC_000009.12:77339811:A:G p.(Leu2186=) NC_000009.12:77339811:A:G Identity +NM_001003841.3:c.1122C>A NP_001003841.1:p.Ala374= NC_000005.10:1216893:C:A p.(Ala374=) NC_000005.10:1216893:C:A p.(Ala374=) NC_000005.10:1216893:C:A Identity +NM_001287489.2:c.4938C>T NP_001274418.1:p.Pro1646= NC_000002.12:26464890:G:A p.(Pro1646=) NC_000002.12:26464890:G:A p.(Pro1646=) NC_000002.12:26464890:G:A Identity +NM_000186.4:c.336T>C NP_000177.2:p.Tyr112= NC_000001.11:196673947:T:C p.(Tyr112=) NC_000001.11:196673947:T:C p.(Tyr112=) NC_000001.11:196673947:T:C Identity +NM_001113378.2:c.3636C>T NP_001106849.1:p.Phe1212= NC_000015.10:89307656:C:T p.(Phe1212=) NC_000015.10:89307656:C:T p.(Phe1212=) NC_000015.10:89307656:C:T Identity +NM_001080463.2:c.3861A>G NP_001073932.1:p.Arg1287= NC_000011.10:103156503:A:G p.(Arg1287=) NC_000011.10:103156503:A:G p.(Arg1287=) NC_000011.10:103156503:A:G Identity +NM_001201543.2:c.1140A>C NP_001188472.1:p.Arg380= NC_000002.12:61839863:T:G p.(Arg380=) NC_000002.12:61839863:T:G p.(Arg380=) NC_000002.12:61839863:T:G Identity +NM_032888.4:c.504C>G NP_116277.2:p.Val168= NC_000009.12:114168058:C:G p.(Val168=) NC_000009.12:114168058:C:G p.(Val168=) NC_000009.12:114168058:C:G Identity +NM_003235.5:c.7479C>A NP_003226.4:p.Ala2493= NC_000008.11:133096279:C:A p.(Ala2493=) NC_000008.11:133096279:C:A p.(Ala2493=) NC_000008.11:133096279:C:A Identity +NM_000660.7:c.29_34del NP_000651.3:p.Pro10_Leu11del NC_000019.10:41353010:GCAGCGGCAGC:GCAGC p.(Pro10_Leu11del) NC_000019.10:41353010:GCAGCGGCAGC:GCAGC p.(Pro10_Leu11del) NC_000019.10:41353010:GCAGCG: Identity +NM_000142.5:c.1413G>A NP_000133.1:p.Arg471= NC_000004.12:1805354:G:A p.(Arg471=) NC_000004.12:1805354:G:A p.(Arg471=) NC_000004.12:1805354:G:A Identity +NM_001080414.4:c.1356G>A NP_001073883.2:p.Ser452= NC_000014.9:91321290:C:T p.(Ser452=) NC_000014.9:91321290:C:T p.(Ser452=) NC_000014.9:91321290:C:T Identity +NM_001270950.2:c.954G>A NP_001257879.1:p.Gly318= NC_000018.10:62384973:G:A p.(Gly318=) NC_000018.10:62384973:G:A p.(Gly318=) NC_000018.10:62384973:G:A Identity +NM_000047.3:c.702C>T NP_000038.2:p.Ala234= NC_000023.11:2949455:G:A p.(Ala234=) NC_000023.11:2949455:G:A p.(Ala234=) NC_000023.11:2949455:G:A Identity +NM_001376.5:c.13092G>A NP_001367.2:p.Thr4364= NC_000014.9:102047901:G:A p.(Thr4364=) NC_000014.9:102047901:G:A p.(Thr4364=) NC_000014.9:102047901:G:A Identity +NM_001135639.2:c.267C>T NP_001129111.1:p.Gly89= NC_000016.10:57964152:G:A p.(Gly89=) NC_000016.10:57964152:G:A p.(Gly89=) NC_000016.10:57964152:G:A Identity +NM_001068.3:c.1266C>T NP_001059.2:p.Gly422= NC_000003.12:25630924:G:A p.(Gly422=) NC_000003.12:25630924:G:A p.(Gly422=) NC_000003.12:25630924:G:A Identity +NM_000443.4:c.354T>C NP_000434.1:p.Tyr118= NC_000007.14:87453125:A:G p.(Tyr118=) NC_000007.14:87453125:A:G p.(Tyr118=) NC_000007.14:87453125:A:G Identity +NM_001271022.2:c.141C>G NP_001257951.1:p.Leu47= NC_000003.12:48451868:C:G p.(Leu47=) NC_000003.12:48451868:C:G p.(Leu47=) NC_000003.12:48451868:C:G Identity +NM_001079668.3:c.399C>G NP_001073136.1:p.Thr133= NC_000014.9:36519048:G:C p.(Thr133=) NC_000014.9:36519048:G:C p.(Thr133=) NC_000014.9:36519048:G:C Identity +NM_000720.4:c.5871C>A NP_000711.1:p.Val1957= NC_000003.12:53808709:C:A p.(Val1957=) NC_000003.12:53808709:C:A p.(Val1957=) NC_000003.12:53808709:C:A Identity +NM_001135597.2:c.219A>C NP_001129069.1:p.Ser73= NC_000002.12:55388831:T:G p.(Ser73=) NC_000002.12:55388831:T:G p.(Ser73=) NC_000002.12:55388831:T:G Identity +NM_001369369.1:c.660G>A NP_001356298.1:p.Leu220= NC_000017.11:28527321:G:A p.(Leu220=) NC_000017.11:28527321:G:A p.(Leu220=) NC_000017.11:28527321:G:A Identity +NM_001080463.2:c.1815C>T NP_001073932.1:p.Asn605= NC_000011.10:103125252:C:T p.(Asn605=) NC_000011.10:103125252:C:T p.(Asn605=) NC_000011.10:103125252:C:T Identity +NM_001012339.3:c.1059A>G NP_001012339.2:p.Glu353= NC_000005.10:34944941:A:G p.(Glu353=) NC_000005.10:34944941:A:G p.(Glu353=) NC_000005.10:34944941:A:G Identity +NM_032444.4:c.4950A>G NP_115820.2:p.Gly1650= NC_000016.10:3583299:T:C p.(Gly1650=) NC_000016.10:3583299:T:C p.(Gly1650=) NC_000016.10:3583299:T:C Identity +NM_001289396.2:c.4239A>G NP_001276325.1:p.Glu1413= NC_000009.12:2170457:A:G p.(Glu1413=) NC_000009.12:2170457:A:G p.(Glu1413=) NC_000009.12:2170457:A:G Identity +NM_198834.3:c.768G>A NP_942131.1:p.Pro256= NC_000017.11:37277066:C:T p.(Pro256=) NC_000017.11:37277066:C:T p.(Pro256=) NC_000017.11:37277066:C:T Identity +NM_001321924.2:c.537T>C NP_001308853.1:p.Phe179= NC_000015.10:64418596:T:C p.(Phe179=) NC_000015.10:64418596:T:C p.(Phe179=) NC_000015.10:64418596:T:C Identity +NM_001135.4:c.756G>A NP_001126.3:p.Glu252= NC_000015.10:88841865:G:A p.(Glu252=) NC_000015.10:88841865:G:A p.(Glu252=) NC_000015.10:88841865:G:A Identity +NM_032242.4:c.639C>T NP_115618.3:p.Ala213= NC_000003.12:126989231:C:T p.(Ala213=) NC_000003.12:126989231:C:T p.(Ala213=) NC_000003.12:126989231:C:T Identity +NM_000254.3:c.3750T>C NP_000245.2:p.Ala1250= NC_000001.11:236897595:T:C p.(Ala1250=) NC_000001.11:236897595:T:C p.(Ala1250=) NC_000001.11:236897595:T:C Identity +NM_001029852.4:c.1035C>T NP_001025023.1:p.Tyr345= NC_000005.10:77351081:C:T p.(Tyr345=) NC_000005.10:77351081:C:T p.(Tyr345=) NC_000005.10:77351081:C:T Identity +NM_001379500.1:c.972G>T NP_001366429.1:p.Gly324= NC_000021.9:45477453:G:T p.(Gly324=) NC_000021.9:45477453:G:T p.(Gly324=) NC_000021.9:45477453:G:T Identity +NM_000285.4:c.1275C>T NP_000276.2:p.Ala425= NC_000019.10:33387958:G:A p.(Ala425=) NC_000019.10:33387958:G:A p.(Ala425=) NC_000019.10:33387958:G:A Identity +NM_001080414.4:c.585C>T NP_001073883.2:p.His195= NC_000014.9:91339922:G:A p.(His195=) NC_000014.9:91339922:G:A p.(His195=) NC_000014.9:91339922:G:A Identity +NM_001166133.2:c.4674C>T NP_001159605.1:p.Phe1558= NC_000004.12:78421995:C:T p.(Phe1558=) NC_000004.12:78421995:C:T p.(Phe1558=) NC_000004.12:78421995:C:T Identity +NM_005573.4:c.18C>T NP_005564.1:p.Pro6= NC_000005.10:126777525:C:T p.(Pro6=) NC_000005.10:126777525:C:T p.(Pro6=) NC_000005.10:126777525:C:T Identity +NM_001367624.2:c.2475C>T NP_001354553.1:p.Phe825= NC_000016.10:88429944:C:T p.(Phe825=) NC_000016.10:88429944:C:T p.(Phe825=) NC_000016.10:88429944:C:T Identity +NM_001378418.1:c.1581A>G NP_001365347.1:p.Ser527= NC_000022.11:42213724:T:C p.(Ser527=) NC_000022.11:42213724:T:C p.(Ser527=) NC_000022.11:42213724:T:C Identity +NM_005530.3:c.324A>G NP_005521.1:p.Pro108= NC_000015.10:78161614:A:G p.(Pro108=) NC_000015.10:78161614:A:G p.(Pro108=) NC_000015.10:78161614:A:G Identity +NM_000308.4:c.669C>T NP_000299.3:p.Tyr223= NC_000020.11:45893287:C:T p.(Tyr223=) NC_000020.11:45893287:C:T p.(Tyr223=) NC_000020.11:45893287:C:T Identity +NM_004525.3:c.4416T>C NP_004516.2:p.Asp1472= NC_000002.12:169238180:A:G p.(Asp1472=) NC_000002.12:169238180:A:G p.(Asp1472=) NC_000002.12:169238180:A:G Identity +NM_001134363.3:c.1476G>A NP_001127835.2:p.Arg492= NC_000010.11:110784837:G:A p.(Arg492=) NC_000010.11:110784837:G:A p.(Arg492=) NC_000010.11:110784837:G:A Identity +NM_001350914.2:c.2868G>A NP_001337843.1:p.Leu956= NC_000007.14:158945583:G:A p.(Leu956=) NC_000007.14:158945583:G:A p.(Leu956=) NC_000007.14:158945583:G:A Identity +NM_005157.6:c.2674T>C NP_005148.2:p.Leu892= NC_000009.12:130884963:T:C p.(Leu892=) NC_000009.12:130884963:T:C p.(Leu892=) NC_000009.12:130884963:T:C Identity +NM_001007188.4:c.384C>T NP_001007189.1:p.Ile128= NC_000022.11:31768833:C:T p.(Ile128=) NC_000022.11:31768833:C:T p.(Ile128=) NC_000022.11:31768833:C:T Identity +NM_001032282.4:c.1074C>T NP_001027453.1:p.His358= NC_000008.11:102651224:G:A p.(His358=) NC_000008.11:102651224:G:A p.(His358=) NC_000008.11:102651224:G:A Identity +NM_001172574.2:c.135A>G NP_001166045.2:p.Lys45= NC_000008.11:6414784:A:G p.(Lys45=) NC_000008.11:6414784:A:G p.(Lys45=) NC_000008.11:6414784:A:G Identity +NM_000612.6:c.198C>T NP_000603.1:p.Ile66= NC_000011.10:2133624:G:A p.(Ile66=) NC_000011.10:2133624:G:A p.(Ile66=) NC_000011.10:2133624:G:A Identity +NM_001135.4:c.1836C>T NP_001126.3:p.Tyr612= NC_000015.10:88849540:C:T p.(Tyr612=) NC_000015.10:88849540:C:T p.(Tyr612=) NC_000015.10:88849540:C:T Identity +NM_001367830.1:c.255G>A NP_001354759.1:p.Leu85= NC_000019.10:11252835:C:T p.(Leu85=) NC_000019.10:11252835:C:T p.(Leu85=) NC_000019.10:11252835:C:T Identity +NM_001315529.2:c.2991G>A NP_001302458.1:p.Glu997= NC_000021.9:46385863:G:A p.(Glu997=) NC_000021.9:46385863:G:A p.(Glu997=) NC_000021.9:46385863:G:A Identity +NM_001128931.2:c.126G>A NP_001122403.1:p.Pro42= NC_000004.12:163166601:C:T p.(Pro42=) NC_000004.12:163166601:C:T p.(Pro42=) NC_000004.12:163166601:C:T Identity +NM_001291285.3:c.5403G>A NP_001278214.1:p.Arg1801= NC_000004.12:125406974:G:A p.(Arg1801=) NC_000004.12:125406974:G:A p.(Arg1801=) NC_000004.12:125406974:G:A Identity +NM_000286.3:c.1020C>T NP_000277.1:p.Pro340= NC_000017.11:35575841:G:A p.(Pro340=) NC_000017.11:35575841:G:A p.(Pro340=) NC_000017.11:35575841:G:A Identity +NM_001330454.2:c.186A>C NP_001317383.1:p.Arg62= NC_000016.10:3506381:A:C p.(Arg62=) NC_000016.10:3506381:A:C p.(Arg62=) NC_000016.10:3506381:A:C Identity +NM_003737.4:c.4446C>G NP_003728.1:p.Pro1482= NC_000011.10:6630347:G:C p.(Pro1482=) NC_000011.10:6630347:G:C p.(Pro1482=) NC_000011.10:6630347:G:C Identity +NM_032119.4:c.12177G>A NP_115495.3:p.Thr4059= NC_000005.10:90763360:G:A p.(Thr4059=) NC_000005.10:90763360:G:A p.(Thr4059=) NC_000005.10:90763360:G:A Identity +NM_000719.7:c.1770C>T NP_000710.5:p.Arg590= NC_000012.12:2567668:C:T p.(Arg590=) NC_000012.12:2567668:C:T p.(Arg590=) NC_000012.12:2567668:C:T Identity +NM_001256213.2:c.174A>G NP_001243142.1:p.Thr58= NC_000019.10:41988329:T:C p.(Thr58=) NC_000019.10:41988329:T:C p.(Thr58=) NC_000019.10:41988329:T:C Identity +NM_003630.3:c.250C>T NP_003621.1:p.Leu84= NC_000006.12:143462959:C:T p.(Leu84=) NC_000006.12:143462959:C:T p.(Leu84=) NC_000006.12:143462959:C:T Identity +NM_001287489.2:c.2922C>A NP_001274418.1:p.Ala974= NC_000002.12:26475982:G:T p.(Ala974=) NC_000002.12:26475982:G:T p.(Ala974=) NC_000002.12:26475982:G:T Identity +NM_000392.5:c.480T>A NP_000383.2:p.Ser160= NC_000010.11:99793902:T:A p.(Ser160=) NC_000010.11:99793902:T:A p.(Ser160=) NC_000010.11:99793902:T:A Identity +NM_001002269.2:c.63C>T NP_001002269.1:p.Arg21= NC_000009.12:37784981:G:A p.(Arg21=) NC_000009.12:37784981:G:A p.(Arg21=) NC_000009.12:37784981:G:A Identity +NM_001351846.2:c.2097C>T NP_001338775.1:p.Phe699= NC_000016.10:1506299:C:T p.(Phe699=) NC_000016.10:1506299:C:T p.(Phe699=) NC_000016.10:1506299:C:T Identity +NM_004700.4:c.1803C>T NP_004691.2:p.Asp601= NC_000001.11:40837721:C:T p.(Asp601=) NC_000001.11:40837721:C:T p.(Asp601=) NC_000001.11:40837721:C:T Identity +NM_001171930.2:c.2745C>A NP_001165401.1:p.Ile915= NC_000010.11:71704921:C:A p.(Ile915=) NC_000010.11:71704921:C:A p.(Ile915=) NC_000010.11:71704921:C:A Identity +NM_207361.6:c.5097C>T NP_997244.4:p.Ile1699= NC_000013.11:38692440:C:T p.(Ile1699=) NC_000013.11:38692440:C:T p.(Ile1699=) NC_000013.11:38692440:C:T Identity +NM_001204961.2:c.660C>T NP_001191890.1:p.Cys220= NC_000001.11:164799847:C:T p.(Cys220=) NC_000001.11:164799847:C:T p.(Cys220=) NC_000001.11:164799847:C:T Identity +NM_199242.3:c.2818C>T NP_954712.1:p.Leu940= NC_000017.11:75830373:G:A p.(Leu940=) NC_000017.11:75830373:G:A p.(Leu940=) NC_000017.11:75830373:G:A Identity +NM_182493.3:c.273C>T NP_872299.2:p.Pro91= NC_000016.10:46747920:G:A p.(Pro91=) NC_000016.10:46747920:G:A p.(Pro91=) NC_000016.10:46747920:G:A Identity +NM_025074.7:c.7515C>T NP_079350.5:p.Phe2505= NC_000004.12:78472322:C:T p.(Phe2505=) NC_000004.12:78472322:C:T p.(Phe2505=) NC_000004.12:78472322:C:T Identity +NM_020041.3:c.84G>A NP_064425.2:p.Gly28= NC_000004.12:10021345:C:T p.(Gly28=) NC_000004.12:10021345:C:T p.(Gly28=) NC_000004.12:10021345:C:T Identity +NM_001303496.3:c.4215G>A NP_001290425.1:p.Thr1405= NC_000007.14:93131756:C:T p.(Thr1405=) NC_000007.14:93131756:C:T p.(Thr1405=) NC_000007.14:93131756:C:T Identity +NM_000028.3:c.1320C>T NP_000019.2:p.Ser440= NC_000001.11:99876493:C:T p.(Ser440=) NC_000001.11:99876493:C:T p.(Ser440=) NC_000001.11:99876493:C:T Identity +NM_001303496.3:c.3396A>G NP_001290425.1:p.Lys1132= NC_000007.14:93132575:T:C p.(Lys1132=) NC_000007.14:93132575:T:C p.(Lys1132=) NC_000007.14:93132575:T:C Identity +NM_001166133.2:c.525C>T NP_001159605.1:p.Ser175= NC_000004.12:78255296:C:T p.(Ser175=) NC_000004.12:78255296:C:T p.(Ser175=) NC_000004.12:78255296:C:T Identity +NM_000455.5:c.786G>A NP_000446.1:p.Lys262= NC_000019.10:1221263:G:A p.(Lys262=) NC_000019.10:1221263:G:A p.(Lys262=) NC_000019.10:1221263:G:A Identity +NM_001079846.1:c.3810C>T NP_001073315.1:p.Cys1270= NC_000016.10:3744951:G:A p.(Cys1270=) NC_000016.10:3744951:G:A p.(Cys1270=) NC_000016.10:3744951:G:A Identity +NM_001852.4:c.1350C>G NP_001843.1:p.Pro450= NC_000001.11:40303945:G:C p.(Pro450=) NC_000001.11:40303945:G:C p.(Pro450=) NC_000001.11:40303945:G:C Identity +NM_001035.3:c.6118AAG[4] NP_001026.2:p.Lys2042_Gln2043insLys NC_000001.11:237625754:GAAGAAGAAG:GAAGAAGAAGAAG p.(Lys2042dup) NC_000001.11:237625755:A:AAGAAGAAGAAG ERR:Parse ERR:Parse Analogous +NM_001291860.2:c.3729T>C NP_001278789.1:p.Ser1243= NC_000001.11:21873941:A:G p.(Ser1243=) NC_000001.11:21873941:A:G p.(Ser1243=) NC_000001.11:21873941:A:G Identity +NM_001271684.2:c.234T>G NP_001258613.1:p.Leu78= NC_000001.11:99999306:T:G p.(Leu78=) NC_000001.11:99999306:T:G p.(Leu78=) NC_000001.11:99999306:T:G Identity +NM_013416.4:c.933T>C NP_038202.2:p.His311= NC_000022.11:36875957:T:C p.(His311=) NC_000022.11:36875957:T:C p.(His311=) NC_000022.11:36875957:T:C Identity +NM_001080463.2:c.603A>G NP_001073932.1:p.Leu201= NC_000011.10:103115276:A:G p.(Leu201=) NC_000011.10:103115276:A:G p.(Leu201=) NC_000011.10:103115276:A:G Identity +NM_004369.4:c.3387A>T NP_004360.2:p.Thr1129= NC_000002.12:237374703:T:A p.(Thr1129=) NC_000002.12:237374703:T:A p.(Thr1129=) NC_000002.12:237374703:T:A Identity +NM_000941.2:c.933G>A NP_000932.3:p.Ser311= NC_000007.14:75983621:G:A ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_001291285.3:c.2694G>A NP_001278214.1:p.Glu898= NC_000004.12:125319104:G:A p.(Glu898=) NC_000004.12:125319104:G:A p.(Glu898=) NC_000004.12:125319104:G:A Identity +NM_005908.4:c.1413C>T NP_005899.3:p.Phe471= NC_000004.12:102664756:G:A p.(Phe471=) NC_000004.12:102664756:G:A p.(Phe471=) NC_000004.12:102664756:G:A Identity +NM_001080463.2:c.7005C>T NP_001073932.1:p.Cys2335= NC_000011.10:103187450:C:T p.(Cys2335=) NC_000011.10:103187450:C:T p.(Cys2335=) NC_000011.10:103187450:C:T Identity +NM_003394.4:c.87T>C NP_003385.2:p.Asn29= NC_000012.12:48970338:A:G p.(Asn29=) NC_000012.12:48970338:A:G p.(Asn29=) NC_000012.12:48970338:A:G Identity +NM_005559.4:c.612C>A NP_005550.2:p.Gly204= NC_000018.10:7049233:G:T p.(Gly204=) NC_000018.10:7049233:G:T p.(Gly204=) NC_000018.10:7049233:G:T Identity +NM_001288653.2:c.648A>G NP_001275582.1:p.Glu216= NC_000017.11:59648355:A:G p.(Glu216=) NC_000017.11:59648355:A:G p.(Glu216=) NC_000017.11:59648355:A:G Identity +NM_006204.4:c.1551A>G NP_006195.3:p.Thr517= NC_000010.11:93640137:A:G p.(Thr517=) NC_000010.11:93640137:A:G p.(Thr517=) NC_000010.11:93640137:A:G Identity +NM_015295.3:c.1908T>C NP_056110.2:p.Asp636= NC_000018.10:2705758:T:C p.(Asp636=) NC_000018.10:2705758:T:C p.(Asp636=) NC_000018.10:2705758:T:C Identity +LRG_143t1:c.10035A>G LRG_143p1:p.Leu3345= NC_000001.11:235709198:T:C ERR:Data provider error: ValueError: Transcript LRG_143t1 not found ERR:Data provider error: ValueError: Transcript LRG_143t1 not found ERR:AlignmentMapper(tx_ac=LRG_143t1, alt_ac=LRG_143t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_143t1, alt_ac=LRG_143t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_143t1 not found +NM_024577.4:c.1407C>G NP_078853.2:p.Pro469= NC_000005.10:149028324:G:C p.(Pro469=) NC_000005.10:149028324:G:C p.(Pro469=) NC_000005.10:149028324:G:C Identity +NM_001166103.2:c.88C>A NP_001159575.1:p.Arg30= NC_000019.10:38264979:C:A p.(Arg30=) NC_000019.10:38264979:C:A p.(Arg30=) NC_000019.10:38264979:C:A Identity +NM_001367916.1:c.574T>C NP_001354845.1:p.Leu192= NC_000023.11:77856830:A:G p.(Leu192=) NC_000023.11:77856830:A:G p.(Leu192=) NC_000023.11:77856830:A:G Identity +NM_000632.4:c.243C>T NP_000623.2:p.Pro81= NC_000016.10:31265814:C:T p.(Pro81=) NC_000016.10:31265814:C:T p.(Pro81=) NC_000016.10:31265814:C:T Identity +NM_199242.3:c.1644G>A NP_954712.1:p.Val548= NC_000017.11:75835729:C:T p.(Val548=) NC_000017.11:75835729:C:T p.(Val548=) NC_000017.11:75835729:C:T Identity +NM_001242385.2:c.120T>C NP_001229314.1:p.Tyr40= NC_000006.12:10818921:A:G p.(Tyr40=) NC_000006.12:10818921:A:G p.(Tyr40=) NC_000006.12:10818921:A:G Identity +NM_016070.4:c.207G>T NP_057154.2:p.Arg69= NC_000017.11:57849247:C:A p.(Arg69=) NC_000017.11:57849247:C:A p.(Arg69=) NC_000017.11:57849247:C:A Identity +NM_000228.3:c.1668C>T NP_000219.2:p.Arg556= NC_000001.11:209625955:G:A p.(Arg556=) NC_000001.11:209625955:G:A p.(Arg556=) NC_000001.11:209625955:G:A Identity +NM_001172631.3:c.1449C>T NP_001166102.1:p.Ser483= NC_000014.9:102434265:C:T p.(Ser483=) NC_000014.9:102434265:C:T p.(Ser483=) NC_000014.9:102434265:C:T Identity +NM_001166133.2:c.3360A>G NP_001159605.1:p.Pro1120= NC_000004.12:78379792:A:G p.(Pro1120=) NC_000004.12:78379792:A:G p.(Pro1120=) NC_000004.12:78379792:A:G Identity +NM_001256468.2:c.2616A>C NP_001243397.1:p.Thr872= NC_000010.11:75022023:A:C p.(Thr872=) NC_000010.11:75022023:A:C p.(Thr872=) NC_000010.11:75022023:A:C Identity +NM_000350.3:c.4242C>T NP_000341.2:p.Tyr1414= NC_000001.11:94031006:G:A p.(Tyr1414=) NC_000001.11:94031006:G:A p.(Tyr1414=) NC_000001.11:94031006:G:A Identity +NM_000376.3:c.885C>T NP_000367.1:p.Tyr295= NC_000012.12:47846678:G:A p.(Tyr295=) NC_000012.12:47846678:G:A p.(Tyr295=) NC_000012.12:47846678:G:A Identity +NM_000293.3:c.1134T>C NP_000284.1:p.Phe378= NC_000016.10:47594143:T:C p.(Phe378=) NC_000016.10:47594143:T:C p.(Phe378=) NC_000016.10:47594143:T:C Identity +NM_000396.4:c.714A>G NP_000387.1:p.Ala238= NC_000001.11:150799613:T:C p.(Ala238=) NC_000001.11:150799613:T:C p.(Ala238=) NC_000001.11:150799613:T:C Identity +NM_000092.5:c.894A>G NP_000083.3:p.Lys298= NC_000002.12:227102824:T:C p.(Lys298=) NC_000002.12:227102824:T:C p.(Lys298=) NC_000002.12:227102824:T:C Identity +NM_001004334.4:c.3018T>C NP_001004334.3:p.Asn1006= NC_000017.11:38330550:A:G p.(Asn1006=) NC_000017.11:38330550:A:G p.(Asn1006=) NC_000017.11:38330550:A:G Identity +NM_001099952.4:c.1371T>C NP_001093422.2:p.Ala457= NC_000003.12:4662200:T:C p.(Ala457=) NC_000003.12:4662200:T:C p.(Ala457=) NC_000003.12:4662200:T:C Identity +NM_003742.4:c.1722C>A NP_003733.2:p.Ile574= NC_000002.12:168970131:G:T p.(Ile574=) NC_000002.12:168970131:G:T p.(Ile574=) NC_000002.12:168970131:G:T Identity +NM_001286205.2:c.444C>T NP_001273134.1:p.Thr148= NC_000016.10:90036522:C:T p.(Thr148=) NC_000016.10:90036522:C:T p.(Thr148=) NC_000016.10:90036522:C:T Identity +NM_014141.6:c.2574T>C NP_054860.1:p.Phe858= NC_000007.14:148147509:T:C p.(Phe858=) NC_000007.14:148147509:T:C p.(Phe858=) NC_000007.14:148147509:T:C Identity +NM_001287489.2:c.5565G>A NP_001274418.1:p.Pro1855= NC_000002.12:26460998:C:T p.(Pro1855=) NC_000002.12:26460998:C:T p.(Pro1855=) NC_000002.12:26460998:C:T Identity +NM_001142800.2:c.4654T>C NP_001136272.1:p.Leu1552= NC_000006.12:64591212:A:G p.(Leu1552=) NC_000006.12:64591212:A:G p.(Leu1552=) NC_000006.12:64591212:A:G Identity +NM_001567.4:c.1323C>T NP_001558.3:p.Asn441= NC_000011.10:72231014:C:T p.(Asn441=) NC_000011.10:72231014:C:T p.(Asn441=) NC_000011.10:72231014:C:T Identity +NM_015909.4:c.6501T>C NP_056993.2:p.Ser2167= NC_000002.12:15190334:A:G p.(Ser2167=) NC_000002.12:15190334:A:G p.(Ser2167=) NC_000002.12:15190334:A:G Identity +NM_001142763.2:c.4197G>T NP_001136235.1:p.Val1399= NC_000010.11:53831334:C:A p.(Val1399=) NC_000010.11:53831334:C:A p.(Val1399=) NC_000010.11:53831334:C:A Identity +NM_000547.6:c.1545C>T NP_000538.3:p.Pro515= NC_000002.12:1484801:C:T p.(Pro515=) NC_000002.12:1484801:C:T p.(Pro515=) NC_000002.12:1484801:C:T Identity +NM_001374839.1:c.603A>G NP_001361768.1:p.Gln201= NC_000008.11:144414815:T:C p.(Gln201=) NC_000008.11:144414815:T:C p.(Gln201=) NC_000008.11:144414815:T:C Identity +NM_001080517.3:c.2313T>C NP_001073986.1:p.Leu771= NC_000003.12:9448596:T:C p.(Leu771=) NC_000003.12:9448596:T:C p.(Leu771=) NC_000003.12:9448596:T:C Identity +NM_001018037.2:c.8736G>A NP_001018047.1:p.Lys2912= NC_000009.12:77370523:G:A p.(Lys2912=) NC_000009.12:77370523:G:A p.(Lys2912=) NC_000009.12:77370523:G:A Identity +NM_001410858.1:c.4045T>C NP_001397787.1:p.Leu1349= NC_000018.10:45910680:A:G p.(Leu1349=) NC_000018.10:45910680:A:G p.(Leu1349=) NC_000018.10:45910680:A:G Identity +NM_182548.4:c.45T>C NP_872354.1:p.His15= NC_000006.12:35805714:T:C p.(His15=) NC_000006.12:35805714:T:C p.(His15=) NC_000006.12:35805714:T:C Identity +NM_000410.4:c.912C>G NP_000401.1:p.Thr304= NC_000006.12:26093137:C:G p.(Thr304=) NC_000006.12:26093137:C:G p.(Thr304=) NC_000006.12:26093137:C:G Identity +NM_000547.6:c.2046G>A NP_000538.3:p.Gln682= NC_000002.12:1496027:G:A p.(Gln682=) NC_000002.12:1496027:G:A p.(Gln682=) NC_000002.12:1496027:G:A Identity +NM_016239.4:c.4606C>A NP_057323.3:p.Arg1536= NC_000017.11:18136425:C:A p.(Arg1536=) NC_000017.11:18136425:C:A p.(Arg1536=) NC_000017.11:18136425:C:A Identity +NM_001126131.2:c.3693G>A NP_001119603.1:p.Leu1231= NC_000015.10:89316777:C:T p.(Leu1231=) NC_000015.10:89316777:C:T p.(Leu1231=) NC_000015.10:89316777:C:T Identity +NM_001039366.1:c.450C>T NP_001034455.1:p.Tyr150= NC_000022.11:17598207:G:A p.(Tyr150=) NC_000022.11:17598207:G:A p.(Tyr150=) NC_000022.11:17598207:G:A Identity +NM_000084.5:c.1548G>A NP_000075.1:p.Arg516= NC_000023.11:50090128:G:A p.(Arg516=) NC_000023.11:50090128:G:A p.(Arg516=) NC_000023.11:50090128:G:A Identity +NM_000350.3:c.2865G>A NP_000341.2:p.Glu955= NC_000001.11:94046971:C:T p.(Glu955=) NC_000001.11:94046971:C:T p.(Glu955=) NC_000001.11:94046971:C:T Identity +NM_001306079.2:c.3651G>A NP_001293008.1:p.Val1217= NC_000002.12:27235297:G:A p.(Val1217=) NC_000002.12:27235297:G:A p.(Val1217=) NC_000002.12:27235297:G:A Identity +NM_000181.4:c.1143C>T NP_000172.2:p.Phe381= NC_000007.14:65974626:G:A p.(Phe381=) NC_000007.14:65974626:G:A p.(Phe381=) NC_000007.14:65974626:G:A Identity +NM_000272.5:c.90G>A NP_000263.2:p.Glu30= NC_000002.12:110201473:C:T p.(Glu30=) NC_000002.12:110201473:C:T p.(Glu30=) NC_000002.12:110201473:C:T Identity +NM_006059.4:c.1746G>A NP_006050.3:p.Leu582= NC_000009.12:131052605:G:A p.(Leu582=) NC_000009.12:131052605:G:A p.(Leu582=) NC_000009.12:131052605:G:A Identity +NM_001377156.1:c.1200C>T NP_001364085.1:p.His400= NC_000007.14:5729449:G:A p.(His400=) NC_000007.14:5729449:G:A p.(His400=) NC_000007.14:5729449:G:A Identity +NM_001304420.3:c.111T>C NP_001291349.1:p.Cys37= NC_000003.12:57757761:T:C p.(Cys37=) NC_000003.12:57757761:T:C p.(Cys37=) NC_000003.12:57757761:T:C Identity +NM_001291969.2:c.1623G>A NP_001278898.1:p.Gln541= NC_000006.12:43614409:G:A p.(Gln541=) NC_000006.12:43614409:G:A p.(Gln541=) NC_000006.12:43614409:G:A Identity +NM_001174146.2:c.162C>T NP_001167617.1:p.Ala54= NC_000009.12:126615404:C:T p.(Ala54=) NC_000009.12:126615404:C:T p.(Ala54=) NC_000009.12:126615404:C:T Identity +NM_003482.4:c.5403A>G NP_003473.3:p.Leu1801= NC_000012.12:49043698:T:C p.(Leu1801=) NC_000012.12:49043698:T:C p.(Leu1801=) NC_000012.12:49043698:T:C Identity +NM_001039375.3:c.555T>C NP_001034464.1:p.Ser185= NC_000020.11:13801604:T:C p.(Ser185=) NC_000020.11:13801604:T:C p.(Ser185=) NC_000020.11:13801604:T:C Identity +NM_001291969.2:c.1518G>A NP_001278898.1:p.Glu506= NC_000006.12:43614304:G:A p.(Glu506=) NC_000006.12:43614304:G:A p.(Glu506=) NC_000006.12:43614304:G:A Identity +NM_001199917.2:c.1380G>C NP_001186846.1:p.Leu460= NC_000006.12:83172005:C:G p.(Leu460=) NC_000006.12:83172005:C:G p.(Leu460=) NC_000006.12:83172005:C:G Identity +NM_000135.4:c.3543G>A NP_000126.2:p.Leu1181= NC_000016.10:89745041:C:T p.(Leu1181=) NC_000016.10:89745041:C:T p.(Leu1181=) NC_000016.10:89745041:C:T Identity +NM_000183.3:c.564G>A NP_000174.1:p.Lys188= NC_000002.12:26278734:G:A p.(Lys188=) NC_000002.12:26278734:G:A p.(Lys188=) NC_000002.12:26278734:G:A Identity +NM_001254.4:c.270A>C NP_001245.1:p.Thr90= NC_000017.11:40291148:A:C p.(Thr90=) NC_000017.11:40291148:A:C p.(Thr90=) NC_000017.11:40291148:A:C Identity +NM_006766.5:c.5019A>T NP_006757.2:p.Pro1673= NC_000008.11:41933200:T:A p.(Pro1673=) NC_000008.11:41933200:T:A p.(Pro1673=) NC_000008.11:41933200:T:A Identity +NM_000081.4:c.3813T>C NP_000072.2:p.Ile1271= NC_000001.11:235800996:A:G p.(Ile1271=) NC_000001.11:235800996:A:G p.(Ile1271=) NC_000001.11:235800996:A:G Identity +NM_145059.3:c.2229C>T NP_659496.2:p.Asp743= NC_000016.10:70474862:C:T p.(Asp743=) NC_000016.10:70474862:C:T p.(Asp743=) NC_000016.10:70474862:C:T Identity +NM_001367624.2:c.5553C>G NP_001354553.1:p.Gly1851= NC_000016.10:88433022:C:G p.(Gly1851=) NC_000016.10:88433022:C:G p.(Gly1851=) NC_000016.10:88433022:C:G Identity +NM_000747.3:c.306C>T NP_000738.2:p.Arg102= NC_000017.11:7446894:C:T p.(Arg102=) NC_000017.11:7446894:C:T p.(Arg102=) NC_000017.11:7446894:C:T Identity +NM_001040875.4:c.771G>T NP_001035808.1:p.Val257= NC_000008.11:74364264:G:T p.(Val257=) NC_000008.11:74364264:G:T p.(Val257=) NC_000008.11:74364264:G:T Identity +NM_001372.4:c.255C>T NP_001363.2:p.Pro85= NC_000017.11:11598752:C:T p.(Pro85=) NC_000017.11:11598752:C:T p.(Pro85=) NC_000017.11:11598752:C:T Identity +NM_001111034.3:c.670C>T NP_001104504.1:p.Leu224= NC_000019.10:11576307:G:A p.(Leu224=) NC_000019.10:11576307:G:A p.(Leu224=) NC_000019.10:11576307:G:A Identity +NM_001163435.3:c.1536T>C NP_001156907.2:p.Cys512= NC_000004.12:106233040:A:G p.(Cys512=) NC_000004.12:106233040:A:G p.(Cys512=) NC_000004.12:106233040:A:G Identity +LRG_1199t1:c.3297C>G LRG_1199p1:p.Leu1099= NC_000002.12:168930778:G:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001080463.2:c.6975A>G NP_001073932.1:p.Arg2325= NC_000011.10:103187420:A:G p.(Arg2325=) NC_000011.10:103187420:A:G p.(Arg2325=) NC_000011.10:103187420:A:G Identity +NM_001315529.2:c.1014T>C NP_001302458.1:p.Tyr338= NC_000021.9:46351451:T:C p.(Tyr338=) NC_000021.9:46351451:T:C p.(Tyr338=) NC_000021.9:46351451:T:C Identity +NM_001447.3:c.10545G>A NP_001438.1:p.Thr3515= NC_000005.10:151522047:C:T p.(Thr3515=) NC_000005.10:151522047:C:T p.(Thr3515=) NC_000005.10:151522047:C:T Identity +NM_004525.3:c.2697T>C NP_004516.2:p.Phe899= NC_000002.12:169256178:A:G p.(Phe899=) NC_000002.12:169256178:A:G p.(Phe899=) NC_000002.12:169256178:A:G Identity +NM_001410858.1:c.7245A>G NP_001397787.1:p.Ala2415= NC_000018.10:45858049:T:C p.(Ala2415=) NC_000018.10:45858049:T:C p.(Ala2415=) NC_000018.10:45858049:T:C Identity +NM_031935.3:c.264T>C NP_114141.2:p.Asp88= NC_000001.11:185735042:T:C p.(Asp88=) NC_000001.11:185735042:T:C p.(Asp88=) NC_000001.11:185735042:T:C Identity +NM_016941.4:c.1317T>C NP_058637.1:p.Ala439= NC_000019.10:39507261:T:C p.(Ala439=) NC_000019.10:39507261:T:C p.(Ala439=) NC_000019.10:39507261:T:C Identity +NM_016350.5:c.672C>T NP_057434.4:p.Leu224= NC_000014.9:50773089:G:A p.(Leu224=) NC_000014.9:50773089:G:A p.(Leu224=) NC_000014.9:50773089:G:A Identity +NM_001261406.2:c.2187A>C NP_001248335.1:p.Ile729= NC_000009.12:13188960:T:G p.(Ile729=) NC_000009.12:13188960:T:G p.(Ile729=) NC_000009.12:13188960:T:G Identity +NM_001282167.2:c.996C>A NP_001269096.1:p.Gly332= NC_000023.11:48517250:C:A p.(Gly332=) NC_000023.11:48517250:C:A p.(Gly332=) NC_000023.11:48517250:C:A Identity +NM_018052.5:c.414G>A NP_060522.3:p.Gly138= NC_000016.10:70785710:C:T p.(Gly138=) NC_000016.10:70785710:C:T p.(Gly138=) NC_000016.10:70785710:C:T Identity +NM_001194998.2:c.762C>T NP_001181927.1:p.Asn254= NC_000015.10:48793390:G:A p.(Asn254=) NC_000015.10:48793390:G:A p.(Asn254=) NC_000015.10:48793390:G:A Identity +NM_173354.5:c.534G>A NP_775490.2:p.Glu178= NC_000021.9:43421332:C:T p.(Glu178=) NC_000021.9:43421332:C:T p.(Glu178=) NC_000021.9:43421332:C:T Identity +NM_018706.7:c.2178G>C NP_061176.4:p.Gly726= NC_000010.11:12112922:G:C p.(Gly726=) NC_000010.11:12112922:G:C p.(Gly726=) NC_000010.11:12112922:G:C Identity +NM_001410858.1:c.5622C>T NP_001397787.1:p.Gly1874= NC_000018.10:45880119:G:A p.(Gly1874=) NC_000018.10:45880119:G:A p.(Gly1874=) NC_000018.10:45880119:G:A Identity +NM_001008738.3:c.2283G>A NP_001008738.3:p.Gly761= NC_000005.10:131672076:C:T p.(Gly761=) NC_000005.10:131672076:C:T p.(Gly761=) NC_000005.10:131672076:C:T Identity +NM_001349896.1:c.1881C>T NP_001336825.1:p.Arg627= NC_000022.11:26457932:G:A p.(Arg627=) NC_000022.11:26457932:G:A p.(Arg627=) NC_000022.11:26457932:G:A Identity +NM_000297.4:c.6G>A NP_000288.1:p.Val2= NC_000004.12:88007738:G:A p.(Val2=) NC_000004.12:88007738:G:A p.(Val2=) NC_000004.12:88007738:G:A Identity +NM_000781.3:c.1377G>A NP_000772.2:p.Val459= NC_000015.10:74338627:C:T p.(Val459=) NC_000015.10:74338627:C:T p.(Val459=) NC_000015.10:74338627:C:T Identity +NM_001161683.2:c.138C>T NP_001155155.1:p.Leu46= NC_000016.10:21685336:C:T p.(Leu46=) NC_000016.10:21685336:C:T p.(Leu46=) NC_000016.10:21685336:C:T Identity +NM_017671.5:c.1905C>T NP_060141.3:p.Cys635= NC_000020.11:6077301:G:A p.(Cys635=) NC_000020.11:6077301:G:A p.(Cys635=) NC_000020.11:6077301:G:A Identity +NM_000376.3:c.96T>G NP_000367.1:p.Thr32= NC_000012.12:47879017:A:C p.(Thr32=) NC_000012.12:47879017:A:C p.(Thr32=) NC_000012.12:47879017:A:C Identity +NM_001002019.3:c.747G>A NP_001002019.1:p.Leu249= NC_000012.12:131941577:G:A p.(Leu249=) NC_000012.12:131941577:G:A p.(Leu249=) NC_000012.12:131941577:G:A Identity +NM_001367904.1:c.396G>A NP_001354833.1:p.Glu132= NC_000011.10:117776905:C:T p.(Glu132=) NC_000011.10:117776905:C:T p.(Glu132=) NC_000011.10:117776905:C:T Identity +NM_001193307.2:c.1608A>G NP_001180236.1:p.Arg536= NC_000007.14:93104489:T:C p.(Arg536=) NC_000007.14:93104489:T:C p.(Arg536=) NC_000007.14:93104489:T:C Identity +NM_000215.4:c.3039C>T NP_000206.2:p.Phe1013= NC_000019.10:17830559:G:A p.(Phe1013=) NC_000019.10:17830559:G:A p.(Phe1013=) NC_000019.10:17830559:G:A Identity +NM_014639.4:c.4521A>G NP_055454.1:p.Arg1507= NC_000005.10:95467964:T:C p.(Arg1507=) NC_000005.10:95467964:T:C p.(Arg1507=) NC_000005.10:95467964:T:C Identity +NM_001135999.2:c.3444G>A NP_001129471.2:p.Val1148= NC_000009.12:35560083:G:A p.(Val1148=) NC_000009.12:35560083:G:A p.(Val1148=) NC_000009.12:35560083:G:A Identity +NM_207361.6:c.9129C>T NP_997244.4:p.Pro3043= NC_000013.11:38880405:C:T p.(Pro3043=) NC_000013.11:38880405:C:T p.(Pro3043=) NC_000013.11:38880405:C:T Identity +NM_002495.4:c.471C>G NP_002486.1:p.Ser157= NC_000005.10:53683163:C:G p.(Ser157=) NC_000005.10:53683163:C:G p.(Ser157=) NC_000005.10:53683163:C:G Identity +NM_001308164.2:c.363T>A NP_001295093.1:p.Thr121= NC_000003.12:158646292:T:A p.(Thr121=) NC_000003.12:158646292:T:A p.(Thr121=) NC_000003.12:158646292:T:A Identity +NM_001171653.2:c.3492C>T NP_001165124.1:p.His1164= NC_000002.12:144389531:G:A p.(His1164=) NC_000002.12:144389531:G:A p.(His1164=) NC_000002.12:144389531:G:A Identity +NM_000326.5:c.462T>C NP_000317.1:p.Tyr154= NC_000015.10:89215122:A:G p.(Tyr154=) NC_000015.10:89215122:A:G p.(Tyr154=) NC_000015.10:89215122:A:G Identity +NM_001207000.1:c.960A>G NP_001193929.1:p.Gln320= NC_000004.12:82427250:T:C p.(Gln320=) NC_000004.12:82427250:T:C p.(Gln320=) NC_000004.12:82427250:T:C Identity +NM_000387.6:c.363C>T NP_000378.1:p.Gly121= NC_000003.12:48879411:G:A p.(Gly121=) NC_000003.12:48879411:G:A p.(Gly121=) NC_000003.12:48879411:G:A Identity +NM_000095.3:c.2130C>T NP_000086.2:p.Asn710= NC_000019.10:18783150:G:A p.(Asn710=) NC_000019.10:18783150:G:A p.(Asn710=) NC_000019.10:18783150:G:A Identity +NM_001178098.2:c.1110C>G NP_001171569.1:p.Gly370= NC_000016.10:28937047:C:G p.(Gly370=) NC_000016.10:28937047:C:G p.(Gly370=) NC_000016.10:28937047:C:G Identity +NM_015404.4:c.1527A>G NP_056219.3:p.Pro509= NC_000009.12:114423412:T:C p.(Pro509=) NC_000009.12:114423412:T:C p.(Pro509=) NC_000009.12:114423412:T:C Identity +NM_001378219.1:c.1731C>T NP_001365148.1:p.Pro577= NC_000011.10:119078023:C:T p.(Pro577=) NC_000011.10:119078023:C:T p.(Pro577=) NC_000011.10:119078023:C:T Identity +NM_139025.5:c.2253C>T NP_620594.1:p.Phe751= NC_000009.12:133443393:C:T p.(Phe751=) NC_000009.12:133443393:C:T p.(Phe751=) NC_000009.12:133443393:C:T Identity +NM_000111.3:c.219G>A NP_000102.1:p.Leu73= NC_000007.14:107793793:C:T p.(Leu73=) NC_000007.14:107793793:C:T p.(Leu73=) NC_000007.14:107793793:C:T Identity +NM_001288653.2:c.2646C>G NP_001275582.1:p.Ala882= NC_000017.11:59677025:C:G p.(Ala882=) NC_000017.11:59677025:C:G p.(Ala882=) NC_000017.11:59677025:C:G Identity +NM_015295.3:c.4863A>G NP_056110.2:p.Gln1621= NC_000018.10:2770004:A:G p.(Gln1621=) NC_000018.10:2770004:A:G p.(Gln1621=) NC_000018.10:2770004:A:G Identity +NM_001033024.2:c.555A>G NP_001028196.1:p.Thr185= NC_000022.11:32487748:A:G p.(Thr185=) NC_000022.11:32487748:A:G p.(Thr185=) NC_000022.11:32487748:A:G Identity +NM_001207014.3:c.240C>T NP_001193943.1:p.Leu80= NC_000011.10:75566588:C:T p.(Leu80=) NC_000011.10:75566588:C:T p.(Leu80=) NC_000011.10:75566588:C:T Identity +NM_001294335.2:c.1449G>A NP_001281264.1:p.Ala483= NC_000001.11:31741935:C:T p.(Ala483=) NC_000001.11:31741935:C:T p.(Ala483=) NC_000001.11:31741935:C:T Identity +NM_014254.3:c.555A>G NP_055069.1:p.Gln185= NC_000012.12:63802216:A:G p.(Gln185=) NC_000012.12:63802216:A:G p.(Gln185=) NC_000012.12:63802216:A:G Identity +NM_001322042.2:c.1270A>C NP_001308971.2:p.Arg424= NC_000008.11:6444991:A:C p.(Arg424=) NC_000008.11:6444991:A:C p.(Arg424=) NC_000008.11:6444991:A:C Identity +NM_012096.3:c.1015C>A NP_036228.1:p.Arg339= NC_000003.12:57249510:C:A p.(Arg339=) NC_000003.12:57249510:C:A p.(Arg339=) NC_000003.12:57249510:C:A Identity +NM_173500.4:c.1746G>A NP_775771.3:p.Glu582= NC_000015.10:42775386:C:T p.(Glu582=) NC_000015.10:42775386:C:T p.(Glu582=) NC_000015.10:42775386:C:T Identity +NM_000379.4:c.1089C>T NP_000370.2:p.Pro363= NC_000002.12:31381675:G:A p.(Pro363=) NC_000002.12:31381675:G:A p.(Pro363=) NC_000002.12:31381675:G:A Identity +NM_000212.3:c.1851G>A NP_000203.2:p.Pro617= NC_000017.11:47299467:G:A p.(Pro617=) NC_000017.11:47299467:G:A p.(Pro617=) NC_000017.11:47299467:G:A Identity +NM_030957.4:c.123C>T NP_112219.3:p.Ile41= NC_000019.10:8605323:G:A p.(Ile41=) NC_000019.10:8605323:G:A p.(Ile41=) NC_000019.10:8605323:G:A Identity +NM_001287489.2:c.5244C>T NP_001274418.1:p.Asp1748= NC_000002.12:26462129:G:A p.(Asp1748=) NC_000002.12:26462129:G:A p.(Asp1748=) NC_000002.12:26462129:G:A Identity +NM_001363656.2:c.753G>A NP_001350585.1:p.Leu251= NC_000019.10:52219851:G:A p.(Leu251=) NC_000019.10:52219851:G:A p.(Leu251=) NC_000019.10:52219851:G:A Identity +NM_052876.4:c.1089C>T NP_443108.1:p.Gly363= NC_000019.10:13136373:C:T p.(Gly363=) NC_000019.10:13136373:C:T p.(Gly363=) NC_000019.10:13136373:C:T Identity +NM_000314.8:c.237C>G NP_000305.3:p.Ala79= NC_000010.11:87931072:C:G p.(Ala79=) NC_000010.11:87931072:C:G p.(Ala79=) NC_000010.11:87931072:C:G Identity +NM_001195573.1:c.765G>A NP_001182502.1:p.Val255= NC_000014.9:95126717:C:T p.(Val255=) NC_000014.9:95126717:C:T p.(Val255=) NC_000014.9:95126717:C:T Identity +NM_000212.3:c.1881C>T NP_000203.2:p.Cys627= NC_000017.11:47299497:C:T p.(Cys627=) NC_000017.11:47299497:C:T p.(Cys627=) NC_000017.11:47299497:C:T Identity +NM_006996.3:c.291T>C NP_008927.1:p.Tyr97= NC_000001.11:169477670:A:G p.(Tyr97=) NC_000001.11:169477670:A:G p.(Tyr97=) NC_000001.11:169477670:A:G Identity +NM_001134373.3:c.1668G>A NP_001127845.1:p.Glu556= NC_000010.11:103089689:C:T p.(Glu556=) NC_000010.11:103089689:C:T p.(Glu556=) NC_000010.11:103089689:C:T Identity +NM_001194998.2:c.3234T>C NP_001181927.1:p.Ser1078= NC_000015.10:48756013:A:G p.(Ser1078=) NC_000015.10:48756013:A:G p.(Ser1078=) NC_000015.10:48756013:A:G Identity +NM_004525.3:c.453T>C NP_004516.2:p.Thr151= NC_000002.12:169294684:A:G p.(Thr151=) NC_000002.12:169294684:A:G p.(Thr151=) NC_000002.12:169294684:A:G Identity +NM_000532.5:c.1077T>C NP_000523.2:p.Pro359= NC_000003.12:136317050:T:C p.(Pro359=) NC_000003.12:136317050:T:C p.(Pro359=) NC_000003.12:136317050:T:C Identity +NM_001114331.3:c.366C>T NP_001107803.1:p.Ile122= NC_000016.10:1460861:G:A p.(Ile122=) NC_000016.10:1460861:G:A p.(Ile122=) NC_000016.10:1460861:G:A Identity +NM_001411101.1:c.72C>A NP_001398030.1:p.Gly24= NC_000017.11:82752264:C:A p.(Gly24=) NC_000017.11:82752264:C:A p.(Gly24=) NC_000017.11:82752264:C:A Identity +NM_001201543.2:c.882C>T NP_001188472.1:p.Pro294= NC_000002.12:61840121:G:A p.(Pro294=) NC_000002.12:61840121:G:A p.(Pro294=) NC_000002.12:61840121:G:A Identity +NM_001282237.2:c.2028C>G NP_001269166.1:p.Pro676= NC_000014.9:99174804:G:C p.(Pro676=) NC_000014.9:99174804:G:C p.(Pro676=) NC_000014.9:99174804:G:C Identity +NM_001206855.3:c.1512C>T NP_001193784.1:p.Tyr504= NC_000007.14:100626873:G:A p.(Tyr504=) NC_000007.14:100626873:G:A p.(Tyr504=) NC_000007.14:100626873:G:A Identity +NM_020529.3:c.12G>A NP_065390.1:p.Ala4= NC_000014.9:35404632:C:T p.(Ala4=) NC_000014.9:35404632:C:T p.(Ala4=) NC_000014.9:35404632:C:T Identity +NM_138694.4:c.5913C>A NP_619639.3:p.Gly1971= NC_000006.12:51934317:G:T p.(Gly1971=) NC_000006.12:51934317:G:T p.(Gly1971=) NC_000006.12:51934317:G:T Identity +NM_003038.5:c.153G>A NP_003029.2:p.Gly51= NC_000002.12:64989795:G:A p.(Gly51=) NC_000002.12:64989795:G:A p.(Gly51=) NC_000002.12:64989795:G:A Identity +NM_001315529.2:c.8772C>T NP_001302458.1:p.Ala2924= NC_000021.9:46440171:C:T p.(Ala2924=) NC_000021.9:46440171:C:T p.(Ala2924=) NC_000021.9:46440171:C:T Identity +NM_031407.7:c.8517T>G NP_113584.3:p.Ala2839= NC_000023.11:53552870:A:C p.(Ala2839=) NC_000023.11:53552870:A:C p.(Ala2839=) NC_000023.11:53552870:A:C Identity +NM_001190818.2:c.1278T>G NP_001177747.1:p.Ala426= NC_000001.11:52388546:A:C p.(Ala426=) NC_000001.11:52388546:A:C p.(Ala426=) NC_000001.11:52388546:A:C Identity +NM_000163.5:c.1380T>C NP_000154.1:p.Pro460= NC_000005.10:42718886:T:C p.(Pro460=) NC_000005.10:42718886:T:C p.(Pro460=) NC_000005.10:42718886:T:C Identity +NM_017613.4:c.1401A>G NP_060083.1:p.Gln467= NC_000021.9:33579511:T:C p.(Gln467=) NC_000021.9:33579511:T:C p.(Gln467=) NC_000021.9:33579511:T:C Identity +NM_001172574.2:c.627G>T NP_001166045.2:p.Leu209= NC_000008.11:6442112:G:T p.(Leu209=) NC_000008.11:6442112:G:T p.(Leu209=) NC_000008.11:6442112:G:T Identity +NM_000355.4:c.648A>G NP_000346.2:p.Arg216= NC_000022.11:30615367:A:G p.(Arg216=) NC_000022.11:30615367:A:G p.(Arg216=) NC_000022.11:30615367:A:G Identity +NM_001382394.1:c.2110T>C NP_001369323.1:p.Leu704= NC_000002.12:39013495:A:G p.(Leu704=) NC_000002.12:39013495:A:G p.(Leu704=) NC_000002.12:39013495:A:G Identity +NM_001135659.3:c.2337T>C NP_001129131.1:p.Ala779= NC_000002.12:50531356:A:G p.(Ala779=) NC_000002.12:50531356:A:G p.(Ala779=) NC_000002.12:50531356:A:G Identity +NM_001194998.2:c.1110C>T NP_001181927.1:p.Tyr370= NC_000015.10:48788863:G:A p.(Tyr370=) NC_000015.10:48788863:G:A p.(Tyr370=) NC_000015.10:48788863:G:A Identity +NM_000260.4:c.99T>C NP_000251.3:p.Ser33= NC_000011.10:77142788:T:C p.(Ser33=) NC_000011.10:77142788:T:C p.(Ser33=) NC_000011.10:77142788:T:C Identity +NM_001142929.2:c.738C>A NP_001136401.2:p.Ala246= NC_000010.11:49627765:C:A p.(Ala246=) NC_000010.11:49627765:C:A p.(Ala246=) NC_000010.11:49627765:C:A Identity +NM_001184976.2:c.1278T>C NP_001171905.1:p.Asn426= NC_000012.12:54518920:T:C p.(Asn426=) NC_000012.12:54518920:T:C p.(Asn426=) NC_000012.12:54518920:T:C Identity +NM_003922.4:c.4941A>G NP_003913.3:p.Leu1647= NC_000015.10:63696303:T:C p.(Leu1647=) NC_000015.10:63696303:T:C p.(Leu1647=) NC_000015.10:63696303:T:C Identity +NM_001193465.2:c.2232C>T NP_001180394.1:p.Asp744= NC_000017.11:46039186:G:A p.(Asp744=) NC_000017.11:46039186:G:A p.(Asp744=) NC_000017.11:46039186:G:A Identity +NM_001166133.2:c.1134T>G NP_001159605.1:p.Pro378= NC_000004.12:78282845:T:G p.(Pro378=) NC_000004.12:78282845:T:G p.(Pro378=) NC_000004.12:78282845:T:G Identity +NM_000080.4:c.1401C>T NP_000071.1:p.Ser467= NC_000017.11:4898816:G:A p.(Ser467=) NC_000017.11:4898816:G:A p.(Ser467=) NC_000017.11:4898816:G:A Identity +NM_001024732.4:c.87G>A NP_001019903.3:p.Gly29= NC_000001.11:29216095:C:T p.(Gly29=) NC_000001.11:29216095:C:T p.(Gly29=) NC_000001.11:29216095:C:T Identity +NM_001145138.2:c.1233C>T NP_001138610.1:p.Ala411= NC_000011.10:65654791:G:A p.(Ala411=) NC_000011.10:65654791:G:A p.(Ala411=) NC_000011.10:65654791:G:A Identity +NM_001414.4:c.549C>T NP_001405.1:p.Val183= NC_000012.12:123626426:G:A p.(Val183=) NC_000012.12:123626426:G:A p.(Val183=) NC_000012.12:123626426:G:A Identity +NM_001080414.4:c.4284C>T NP_001073883.2:p.Ser1428= NC_000014.9:91289261:G:A p.(Ser1428=) NC_000014.9:91289261:G:A p.(Ser1428=) NC_000014.9:91289261:G:A Identity +NM_020338.4:c.291C>T NP_065071.1:p.Ser97= NC_000010.11:79277190:C:T p.(Ser97=) NC_000010.11:79277190:C:T p.(Ser97=) NC_000010.11:79277190:C:T Identity +NM_207361.6:c.6129C>A NP_997244.4:p.Val2043= NC_000013.11:38846681:C:A p.(Val2043=) NC_000013.11:38846681:C:A p.(Val2043=) NC_000013.11:38846681:C:A Identity +NM_001129.5:c.3072A>G NP_001120.3:p.Gln1024= NC_000007.14:44113855:A:G p.(Gln1024=) NC_000007.14:44113855:A:G p.(Gln1024=) NC_000007.14:44113855:A:G Identity +NM_001287489.2:c.2733G>A NP_001274418.1:p.Glu911= NC_000002.12:26476260:C:T p.(Glu911=) NC_000002.12:26476260:C:T p.(Glu911=) NC_000002.12:26476260:C:T Identity +NM_001282782.2:c.630C>T NP_001269711.1:p.Asp210= NC_000022.11:46355541:C:T p.(Asp210=) NC_000022.11:46355541:C:T p.(Asp210=) NC_000022.11:46355541:C:T Identity +NM_024577.4:c.1053C>A NP_078853.2:p.Ala351= NC_000005.10:149031635:G:T p.(Ala351=) NC_000005.10:149031635:G:T p.(Ala351=) NC_000005.10:149031635:G:T Identity +NM_001089.3:c.384C>T NP_001080.2:p.Ser128= NC_000016.10:2324466:G:A p.(Ser128=) NC_000016.10:2324466:G:A p.(Ser128=) NC_000016.10:2324466:G:A Identity +NM_001035.3:c.10617T>C NP_001026.2:p.Asp3539= NC_000001.11:237723189:T:C p.(Asp3539=) NC_000001.11:237723189:T:C p.(Asp3539=) NC_000001.11:237723189:T:C Identity +NM_000335.5:c.3682C>T NP_000326.2:p.Leu1228= NC_000003.12:38566563:G:A p.(Leu1228=) NC_000003.12:38566563:G:A p.(Leu1228=) NC_000003.12:38566563:G:A Identity +NM_001410772.1:c.721C>T NP_001397701.1:p.Leu241= NC_000003.12:52406260:G:A p.(Leu241=) NC_000003.12:52406260:G:A p.(Leu241=) NC_000003.12:52406260:G:A Identity +NM_001163771.2:c.93T>G NP_001157243.1:p.Pro31= NC_000006.12:33189458:A:C p.(Pro31=) NC_000006.12:33189458:A:C p.(Pro31=) NC_000006.12:33189458:A:C Identity +NM_001204831.3:c.741C>T NP_001191760.1:p.Ala247= NC_000003.12:43577112:G:A p.(Ala247=) NC_000003.12:43577112:G:A p.(Ala247=) NC_000003.12:43577112:G:A Identity +NM_001384165.1:c.150A>G NP_001371094.1:p.Leu50= NC_000017.11:44075046:A:G p.(Leu50=) NC_000017.11:44075046:A:G p.(Leu50=) NC_000017.11:44075046:A:G Identity +NM_000426.4:c.6154C>T NP_000417.3:p.Leu2052= NC_000006.12:129440883:C:T p.(Leu2052=) NC_000006.12:129440883:C:T p.(Leu2052=) NC_000006.12:129440883:C:T Identity +NM_001410876.1:c.304C>T NP_001397805.1:p.Leu102= NC_000006.12:35455801:C:T p.(Leu102=) NC_000006.12:35455801:C:T p.(Leu102=) NC_000006.12:35455801:C:T Identity +NM_001284351.3:c.1581C>T NP_001271280.1:p.His527= NC_000005.10:479874:G:A p.(His527=) NC_000005.10:479874:G:A p.(His527=) NC_000005.10:479874:G:A Identity +NM_003235.5:c.6786C>T NP_003226.4:p.Ala2262= NC_000008.11:133019604:C:T p.(Ala2262=) NC_000008.11:133019604:C:T p.(Ala2262=) NC_000008.11:133019604:C:T Identity +NM_000178.4:c.198T>C NP_000169.1:p.Tyr66= NC_000020.11:34946029:A:G p.(Tyr66=) NC_000020.11:34946029:A:G p.(Tyr66=) NC_000020.11:34946029:A:G Identity +NM_032119.4:c.13356G>A NP_115495.3:p.Leu4452= NC_000005.10:90783247:G:A p.(Leu4452=) NC_000005.10:90783247:G:A p.(Leu4452=) NC_000005.10:90783247:G:A Identity +NM_001165412.2:c.2112G>A NP_001158884.1:p.Leu704= NC_000004.12:102607309:G:A p.(Leu704=) NC_000004.12:102607309:G:A p.(Leu704=) NC_000004.12:102607309:G:A Identity +NM_001378761.1:c.1791C>T NP_001365690.1:p.Asn597= NC_000011.10:121118348:C:T p.(Asn597=) NC_000011.10:121118348:C:T p.(Asn597=) NC_000011.10:121118348:C:T Identity +NM_032119.4:c.5958A>G NP_115495.3:p.Arg1986= NC_000005.10:90683878:A:G p.(Arg1986=) NC_000005.10:90683878:A:G p.(Arg1986=) NC_000005.10:90683878:A:G Identity +NM_015378.4:c.8178C>T NP_056193.2:p.Leu2726= NC_000001.11:12327834:C:T p.(Leu2726=) NC_000001.11:12327834:C:T p.(Leu2726=) NC_000001.11:12327834:C:T Identity +NM_000350.3:c.513C>T NP_000341.2:p.Ile171= NC_000001.11:94103071:G:A p.(Ile171=) NC_000001.11:94103071:G:A p.(Ile171=) NC_000001.11:94103071:G:A Identity +NM_001305878.2:c.405C>T NP_001292807.1:p.Phe135= NC_000008.11:42048572:G:A p.(Phe135=) NC_000008.11:42048572:G:A p.(Phe135=) NC_000008.11:42048572:G:A Identity +NM_000023.4:c.1092T>C NP_000014.1:p.Asn364= NC_000017.11:50175364:T:C p.(Asn364=) NC_000017.11:50175364:T:C p.(Asn364=) NC_000017.11:50175364:T:C Identity +NM_001130955.2:c.510G>A NP_001124427.2:p.Ser170= NC_000019.10:7441927:G:A p.(Ser170=) NC_000019.10:7441927:G:A p.(Ser170=) NC_000019.10:7441927:G:A Identity +NM_006445.4:c.6012A>G NP_006436.3:p.Gln2004= NC_000017.11:1653991:T:C p.(Gln2004=) NC_000017.11:1653991:T:C p.(Gln2004=) NC_000017.11:1653991:T:C Identity +NM_000101.4:c.582C>T NP_000092.2:p.Val194= NC_000016.10:88643358:G:A p.(Val194=) NC_000016.10:88643358:G:A p.(Val194=) NC_000016.10:88643358:G:A Identity +NM_021620.4:c.2121G>A NP_067633.2:p.Leu707= NC_000006.12:99614755:G:A p.(Leu707=) NC_000006.12:99614755:G:A p.(Leu707=) NC_000006.12:99614755:G:A Identity +NM_001300823.2:c.1461A>G NP_001287752.1:p.Gln487= NC_000004.12:120754621:T:C p.(Gln487=) NC_000004.12:120754621:T:C p.(Gln487=) NC_000004.12:120754621:T:C Identity +NM_139242.4:c.1068A>G NP_640335.2:p.Lys356= NC_000015.10:65003163:T:C p.(Lys356=) NC_000015.10:65003163:T:C p.(Lys356=) NC_000015.10:65003163:T:C Identity +NM_001146.5:c.517C>T NP_001137.2:p.Leu173= NC_000008.11:107336207:G:A p.(Leu173=) NC_000008.11:107336207:G:A p.(Leu173=) NC_000008.11:107336207:G:A Identity +NM_001243251.2:c.288T>C NP_001230180.1:p.Tyr96= NC_000011.10:78469303:A:G p.(Tyr96=) NC_000011.10:78469303:A:G p.(Tyr96=) NC_000011.10:78469303:A:G Identity +NM_001306153.1:c.1002T>C NP_001293082.1:p.Phe334= NC_000005.10:10261630:T:C p.(Phe334=) NC_000005.10:10261630:T:C p.(Phe334=) NC_000005.10:10261630:T:C Identity +NM_001018113.3:c.2271T>C NP_001018123.1:p.Asp757= NC_000023.11:14843875:A:G p.(Asp757=) NC_000023.11:14843875:A:G p.(Asp757=) NC_000023.11:14843875:A:G Identity +NM_000066.4:c.1119C>T NP_000057.3:p.Asn373= NC_000001.11:56943810:G:A p.(Asn373=) NC_000001.11:56943810:G:A p.(Asn373=) NC_000001.11:56943810:G:A Identity +NM_001244580.2:c.2496G>A NP_001231509.1:p.Val832= NC_000007.14:98917552:G:A p.(Val832=) NC_000007.14:98917552:G:A p.(Val832=) NC_000007.14:98917552:G:A Identity +NM_005932.4:c.1188A>G NP_005923.3:p.Arg396= NC_000013.11:23841406:T:C p.(Arg396=) NC_000013.11:23841406:T:C p.(Arg396=) NC_000013.11:23841406:T:C Identity +NM_016360.4:c.858C>T NP_057444.2:p.His286= NC_000017.11:63607965:C:T p.(His286=) NC_000017.11:63607965:C:T p.(His286=) NC_000017.11:63607965:C:T Identity +NM_001385640.1:c.951T>C NP_001372569.1:p.Ile317= NC_000001.11:935879:T:C p.(Ile317=) NC_000001.11:935879:T:C p.(Ile317=) NC_000001.11:935879:T:C Identity +NM_014639.4:c.2952A>G NP_055454.1:p.Thr984= NC_000005.10:95509655:T:C p.(Thr984=) NC_000005.10:95509655:T:C p.(Thr984=) NC_000005.10:95509655:T:C Identity +NM_000218.3:c.1839T>A NP_000209.2:p.Leu613= NC_000011.10:2847810:T:A p.(Leu613=) NC_000011.10:2847810:T:A p.(Leu613=) NC_000011.10:2847810:T:A Identity +NM_000785.4:c.126C>G NP_000776.1:p.Gly42= NC_000012.12:57766915:G:C p.(Gly42=) NC_000012.12:57766915:G:C p.(Gly42=) NC_000012.12:57766915:G:C Identity +NM_020223.4:c.738C>T NP_064608.2:p.Ile246= NC_000007.14:195685:C:T p.(Ile246=) NC_000007.14:195685:C:T p.(Ile246=) NC_000007.14:195685:C:T Identity +NM_003235.5:c.1482A>G NP_003226.4:p.Thr494= NC_000008.11:132886853:A:G p.(Thr494=) NC_000008.11:132886853:A:G p.(Thr494=) NC_000008.11:132886853:A:G Identity +NM_177965.4:c.456T>C NP_808880.1:p.Asp152= NC_000008.11:95252201:A:G p.(Asp152=) NC_000008.11:95252201:A:G p.(Asp152=) NC_000008.11:95252201:A:G Identity +NM_004525.3:c.9516C>T NP_004516.2:p.Gly3172= NC_000002.12:169185831:G:A p.(Gly3172=) NC_000002.12:169185831:G:A p.(Gly3172=) NC_000002.12:169185831:G:A Identity +NM_001079846.1:c.5172G>A NP_001073315.1:p.Lys1724= NC_000016.10:3729760:C:T p.(Lys1724=) NC_000016.10:3729760:C:T p.(Lys1724=) NC_000016.10:3729760:C:T Identity +NM_001024956.3:c.306C>T NP_001020127.1:p.Tyr102= NC_000011.10:121304455:C:T p.(Tyr102=) NC_000011.10:121304455:C:T p.(Tyr102=) NC_000011.10:121304455:C:T Identity +NM_000046.5:c.1356T>C NP_000037.2:p.Pro452= NC_000005.10:78780642:A:G p.(Pro452=) NC_000005.10:78780642:A:G p.(Pro452=) NC_000005.10:78780642:A:G Identity +NM_001363734.1:c.3169C>T NP_001350663.1:p.Leu1057= NC_000020.11:32436063:C:T p.(Leu1057=) NC_000020.11:32436063:C:T p.(Leu1057=) NC_000020.11:32436063:C:T Identity +NM_001167749.3:c.2472C>T NP_001161221.1:p.His824= NC_000001.11:167845638:G:A p.(His824=) NC_000001.11:167845638:G:A p.(His824=) NC_000001.11:167845638:G:A Identity +NM_001287489.2:c.5628C>T NP_001274418.1:p.Pro1876= NC_000002.12:26460935:G:A p.(Pro1876=) NC_000002.12:26460935:G:A p.(Pro1876=) NC_000002.12:26460935:G:A Identity +NM_001008568.2:c.285C>T NP_001008568.1:p.Pro95= NC_000022.11:46343297:C:T ERR:Data provider error: ValueError: Transcript NM_001008568.2 not found ERR:Data provider error: ValueError: Transcript NM_001008568.2 not found ERR:AlignmentMapper(tx_ac=NM_001008568.2, alt_ac=NM_001008568.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001008568.2, alt_ac=NM_001008568.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001008568.2 not found +NM_001128844.3:c.3351G>C NP_001122316.1:p.Ala1117= NC_000019.10:11027918:G:C p.(Ala1117=) NC_000019.10:11027918:G:C p.(Ala1117=) NC_000019.10:11027918:G:C Identity +NM_001197104.2:c.5601C>A NP_001184033.1:p.Pro1867= NC_000011.10:118496303:C:A p.(Pro1867=) NC_000011.10:118496303:C:A p.(Pro1867=) NC_000011.10:118496303:C:A Identity +NM_001136052.3:c.180C>T NP_001129524.1:p.Leu60= NC_000019.10:49697363:C:T p.(Leu60=) NC_000019.10:49697363:C:T p.(Leu60=) NC_000019.10:49697363:C:T Identity +NM_001128431.4:c.906C>T NP_001121903.1:p.Asp302= NC_000008.11:22415923:C:T p.(Asp302=) NC_000008.11:22415923:C:T p.(Asp302=) NC_000008.11:22415923:C:T Identity +NM_001348250.2:c.159C>T NP_001335179.1:p.Phe53= NC_000003.12:11017369:C:T p.(Phe53=) NC_000003.12:11017369:C:T p.(Phe53=) NC_000003.12:11017369:C:T Identity +NM_001145138.2:c.486G>A NP_001138610.1:p.Val162= NC_000011.10:65659729:C:T p.(Val162=) NC_000011.10:65659729:C:T p.(Val162=) NC_000011.10:65659729:C:T Identity +NM_001282237.2:c.39C>T NP_001269166.1:p.Ser13= NC_000014.9:99271179:G:A p.(Ser13=) NC_000014.9:99271179:G:A p.(Ser13=) NC_000014.9:99271179:G:A Identity +NM_002291.3:c.3384G>A NP_002282.2:p.Glu1128= NC_000007.14:107951232:C:T p.(Glu1128=) NC_000007.14:107951232:C:T p.(Glu1128=) NC_000007.14:107951232:C:T Identity +NM_016239.4:c.5067T>C NP_057323.3:p.Tyr1689= NC_000017.11:18138869:T:C p.(Tyr1689=) NC_000017.11:18138869:T:C p.(Tyr1689=) NC_000017.11:18138869:T:C Identity +NM_007272.3:c.753_754insAACACCCGCAAGAAGCCGGTACTC NP_009203.2:p.Val251_Tyr252insAsnThrArgLysLysProValLeu NC_000001.11:15445708:TC:TCAACACCCGCAAGAAGCCGGTACTC p.(Val251_Tyr252insAsnThrArgLysLysProValLeu) NC_000001.11:15445709:C:AACACCCGCAAGAAGCCGGTACTC p.(Val251_Tyr252insAsnThrArgLysLysProValLeu) NC_000001.11:15445710:CT:AACACCCGCAAGAAGCCGGTACTC Identity +NM_173500.4:c.894G>A NP_775771.3:p.Glu298= NC_000015.10:42794729:C:T p.(Glu298=) NC_000015.10:42794729:C:T p.(Glu298=) NC_000015.10:42794729:C:T Identity +NM_020223.4:c.960C>A NP_064608.2:p.Ile320= NC_000007.14:248317:C:A p.(Ile320=) NC_000007.14:248317:C:A p.(Ile320=) NC_000007.14:248317:C:A Identity +NM_005458.8:c.89_91dup NP_005449.5:p.Pro30_Leu31insPro NC_000009.12:98708646:GCGGC:GCGGCGGC p.(Pro30dup) NC_000009.12:98708646:GCGGC:GCGGCGGC p.(Pro30dup) ERR:SPDI Analogous +NM_145290.4:c.2661T>C NP_660333.2:p.Ile887= NC_000004.12:22389149:A:G p.(Ile887=) NC_000004.12:22389149:A:G p.(Ile887=) NC_000004.12:22389149:A:G Identity +NM_014244.5:c.474C>T NP_055059.2:p.Val158= NC_000005.10:179343826:G:A p.(Val158=) NC_000005.10:179343826:G:A p.(Val158=) NC_000005.10:179343826:G:A Identity +NM_001145357.2:c.3391C>A NP_001138829.1:p.Arg1131= NC_000015.10:75375864:G:T p.(Arg1131=) NC_000015.10:75375864:G:T p.(Arg1131=) NC_000015.10:75375864:G:T Identity +NM_001350626.2:c.1578G>A NP_001337555.1:p.Gln526= NC_000007.14:2539562:C:T p.(Gln526=) NC_000007.14:2539562:C:T p.(Gln526=) NC_000007.14:2539562:C:T Identity +NM_005199.5:c.393C>T NP_005190.4:p.Leu131= NC_000002.12:232541415:C:T p.(Leu131=) NC_000002.12:232541415:C:T p.(Leu131=) NC_000002.12:232541415:C:T Identity +NM_001425246.1:c.693C>T NP_001412175.1:p.His231= NC_000014.9:102929934:C:T p.(His231=) NC_000014.9:102929934:C:T p.(His231=) NC_000014.9:102929934:C:T Identity +NM_020987.5:c.11184A>G NP_066267.2:p.Ala3728= NC_000010.11:60069696:T:C p.(Ala3728=) NC_000010.11:60069696:T:C p.(Ala3728=) NC_000010.11:60069696:T:C Identity +NM_138691.3:c.1704C>T NP_619636.2:p.Tyr568= NC_000009.12:72816150:C:T p.(Tyr568=) NC_000009.12:72816150:C:T p.(Tyr568=) NC_000009.12:72816150:C:T Identity +NM_000632.4:c.702G>A NP_000623.2:p.Val234= NC_000016.10:31271989:G:A p.(Val234=) NC_000016.10:31271989:G:A p.(Val234=) NC_000016.10:31271989:G:A Identity +NM_001318520.2:c.2187C>G NP_001305449.1:p.Leu729= NC_000018.10:70059866:G:C p.(Leu729=) NC_000018.10:70059866:G:C p.(Leu729=) NC_000018.10:70059866:G:C Identity +NM_001160130.2:c.2583T>C NP_001153602.1:p.Phe861= NC_000006.12:73195224:T:C p.(Phe861=) NC_000006.12:73195224:T:C p.(Phe861=) NC_000006.12:73195224:T:C Identity +NM_020223.4:c.1536G>A NP_064608.2:p.Gln512= NC_000007.14:259760:G:A p.(Gln512=) NC_000007.14:259760:G:A p.(Gln512=) NC_000007.14:259760:G:A Identity +NM_001040436.3:c.270T>C NP_001035526.1:p.Gly90= NC_000012.12:32755604:A:G p.(Gly90=) NC_000012.12:32755604:A:G p.(Gly90=) NC_000012.12:32755604:A:G Identity +NM_004560.4:c.2106G>A NP_004551.2:p.Val702= NC_000009.12:91724387:C:T p.(Val702=) NC_000009.12:91724387:C:T p.(Val702=) NC_000009.12:91724387:C:T Identity +NM_032806.6:c.177C>T NP_116195.2:p.Ile59= NC_000003.12:43081254:G:A p.(Ile59=) NC_000003.12:43081254:G:A p.(Ile59=) NC_000003.12:43081254:G:A Identity +NM_001149.4:c.465C>G NP_001140.2:p.Thr155= NC_000010.11:60108939:G:C p.(Thr155=) NC_000010.11:60108939:G:C p.(Thr155=) NC_000010.11:60108939:G:C Identity +NM_145059.3:c.1386C>T NP_659496.2:p.Phe462= NC_000016.10:70472584:C:T p.(Phe462=) NC_000016.10:70472584:C:T p.(Phe462=) NC_000016.10:70472584:C:T Identity +NM_000878.5:c.1635G>A NP_000869.1:p.Gln545= NC_000022.11:37128116:C:T p.(Gln545=) NC_000022.11:37128116:C:T p.(Gln545=) NC_000022.11:37128116:C:T Identity +NM_001202554.2:c.1074G>T NP_001189483.1:p.Leu358= NC_000001.11:26795107:G:T p.(Leu358=) NC_000001.11:26795107:G:T p.(Leu358=) NC_000001.11:26795107:G:T Identity +NM_022114.4:c.648C>T NP_071397.3:p.Pro216= NC_000001.11:3396564:C:T p.(Pro216=) NC_000001.11:3396564:C:T p.(Pro216=) NC_000001.11:3396564:C:T Identity +NM_001197104.2:c.10923G>A NP_001184033.1:p.Glu3641= NC_000011.10:118509969:G:A p.(Glu3641=) NC_000011.10:118509969:G:A p.(Glu3641=) NC_000011.10:118509969:G:A Identity +NM_005708.5:c.1320C>T NP_005699.1:p.Leu440= NC_000013.11:94398495:C:T p.(Leu440=) NC_000013.11:94398495:C:T p.(Leu440=) NC_000013.11:94398495:C:T Identity +NM_001257180.2:c.1656G>A NP_001244109.1:p.Gly552= NC_000008.11:42430116:C:T p.(Gly552=) NC_000008.11:42430116:C:T p.(Gly552=) NC_000008.11:42430116:C:T Identity +NM_025074.7:c.10302G>C NP_079350.5:p.Leu3434= NC_000004.12:78515925:G:C p.(Leu3434=) NC_000004.12:78515925:G:C p.(Leu3434=) NC_000004.12:78515925:G:C Identity +NM_000204.5:c.627C>T NP_000195.3:p.Phe209= NC_000004.12:109761547:G:A p.(Phe209=) NC_000004.12:109761547:G:A p.(Phe209=) NC_000004.12:109761547:G:A Identity +NM_002291.3:c.1815A>G NP_002282.2:p.Pro605= NC_000007.14:107962946:T:C p.(Pro605=) NC_000007.14:107962946:T:C p.(Pro605=) NC_000007.14:107962946:T:C Identity +NM_000210.4:c.286C>A NP_000201.2:p.Arg96= NC_000002.12:172465641:C:A p.(Arg96=) NC_000002.12:172465641:C:A p.(Arg96=) NC_000002.12:172465641:C:A Identity +NM_000081.4:c.7707A>G NP_000072.2:p.Glu2569= NC_000001.11:235751282:T:C p.(Glu2569=) NC_000001.11:235751282:T:C p.(Glu2569=) NC_000001.11:235751282:T:C Identity +NM_001256468.2:c.1251C>T NP_001243397.1:p.Ser417= NC_000010.11:74975587:C:T p.(Ser417=) NC_000010.11:74975587:C:T p.(Ser417=) NC_000010.11:74975587:C:T Identity +NM_002299.4:c.2067C>T NP_002290.2:p.Arg689= NC_000002.12:135812596:G:A p.(Arg689=) NC_000002.12:135812596:G:A p.(Arg689=) NC_000002.12:135812596:G:A Identity +NM_005733.3:c.2004A>G NP_005724.1:p.Ser668= NC_000005.10:138185588:A:G p.(Ser668=) NC_000005.10:138185588:A:G p.(Ser668=) NC_000005.10:138185588:A:G Identity +NM_001164665.2:c.1902C>T NP_001158137.1:p.Leu634= NC_000007.14:138917723:G:A p.(Leu634=) NC_000007.14:138917723:G:A p.(Leu634=) NC_000007.14:138917723:G:A Identity +NM_001365212.1:c.972G>T NP_001352141.1:p.Val324= NC_000001.11:173839497:G:T p.(Val324=) NC_000001.11:173839497:G:T p.(Val324=) NC_000001.11:173839497:G:T Identity +NM_145290.4:c.3219C>T NP_660333.2:p.Asn1073= NC_000004.12:22388451:G:A p.(Asn1073=) NC_000004.12:22388451:G:A p.(Asn1073=) NC_000004.12:22388451:G:A Identity +NM_001349485.2:c.567T>C NP_001336414.1:p.Tyr189= NC_000008.11:125357758:T:C p.(Tyr189=) NC_000008.11:125357758:T:C p.(Tyr189=) NC_000008.11:125357758:T:C Identity +NM_001048218.2:c.684C>T NP_001041683.1:p.Asn228= NC_000011.10:65526863:C:T p.(Asn228=) NC_000011.10:65526863:C:T p.(Asn228=) NC_000011.10:65526863:C:T Identity +NM_001084.5:c.1779C>T NP_001075.1:p.Gly593= NC_000007.14:101208861:G:A p.(Gly593=) NC_000007.14:101208861:G:A p.(Gly593=) NC_000007.14:101208861:G:A Identity +NM_001185077.3:c.96G>A NP_001172006.1:p.Gln32= NC_000017.11:81869834:C:T p.(Gln32=) NC_000017.11:81869834:C:T p.(Gln32=) NC_000017.11:81869834:C:T Identity +NM_000443.4:c.309A>G NP_000434.1:p.Leu103= NC_000007.14:87454569:T:C p.(Leu103=) NC_000007.14:87454569:T:C p.(Leu103=) NC_000007.14:87454569:T:C Identity +NM_001114086.2:c.549C>T NP_001107558.1:p.Ile183= NC_000006.12:45955235:G:A p.(Ile183=) NC_000006.12:45955235:G:A p.(Ile183=) NC_000006.12:45955235:G:A Identity +NM_001170794.2:c.594C>T NP_001164265.1:p.Pro198= NC_000006.12:89951511:G:A p.(Pro198=) NC_000006.12:89951511:G:A p.(Pro198=) NC_000006.12:89951511:G:A Identity +NM_001146289.2:c.1998G>A NP_001139761.1:p.Arg666= NC_000001.11:42747328:C:T p.(Arg666=) NC_000001.11:42747328:C:T p.(Arg666=) NC_000001.11:42747328:C:T Identity +NM_031935.3:c.4521A>G NP_114141.2:p.Gly1507= NC_000001.11:186007172:A:G p.(Gly1507=) NC_000001.11:186007172:A:G p.(Gly1507=) NC_000001.11:186007172:A:G Identity +NM_001034833.2:c.15G>A NP_001030005.1:p.Lys5= NC_000005.10:178153802:C:T p.(Lys5=) NC_000005.10:178153802:C:T p.(Lys5=) NC_000005.10:178153802:C:T Identity +NM_000426.4:c.3528T>C NP_000417.3:p.Ser1176= NC_000006.12:129314770:T:C p.(Ser1176=) NC_000006.12:129314770:T:C p.(Ser1176=) NC_000006.12:129314770:T:C Identity +NM_001318219.1:c.1194G>A NP_001305148.1:p.Glu398= NC_000020.11:35494579:G:A p.(Glu398=) NC_000020.11:35494579:G:A p.(Glu398=) NC_000020.11:35494579:G:A Identity +NM_001942.4:c.1107A>G NP_001933.2:p.Ala369= NC_000018.10:31336454:A:G p.(Ala369=) NC_000018.10:31336454:A:G p.(Ala369=) NC_000018.10:31336454:A:G Identity +NM_001010895.4:c.744A>G NP_001010895.2:p.Leu248= NC_000009.12:95907226:A:G p.(Leu248=) NC_000009.12:95907226:A:G p.(Leu248=) NC_000009.12:95907226:A:G Identity +NM_001011649.3:c.3867T>C NP_001011649.1:p.Asp1289= NC_000009.12:120437382:A:G p.(Asp1289=) NC_000009.12:120437382:A:G p.(Asp1289=) NC_000009.12:120437382:A:G Identity +NM_001306142.2:c.108C>G NP_001293071.1:p.Thr36= NC_000004.12:8871506:G:C p.(Thr36=) NC_000004.12:8871506:G:C p.(Thr36=) NC_000004.12:8871506:G:C Identity +NM_012238.5:c.219G>T NP_036370.2:p.Ala73= NC_000010.11:67884939:G:T p.(Ala73=) NC_000010.11:67884939:G:T p.(Ala73=) NC_000010.11:67884939:G:T Identity +NM_001244580.2:c.11265C>T NP_001231509.1:p.Val3755= NC_000007.14:99011504:C:T p.(Val3755=) NC_000007.14:99011504:C:T p.(Val3755=) NC_000007.14:99011504:C:T Identity +NM_001135659.3:c.1569C>T NP_001129131.1:p.Thr523= NC_000002.12:50552896:G:A p.(Thr523=) NC_000002.12:50552896:G:A p.(Thr523=) NC_000002.12:50552896:G:A Identity +NM_001258366.2:c.2244G>A NP_001245295.1:p.Lys748= NC_000013.11:59911824:C:T p.(Lys748=) NC_000013.11:59911824:C:T p.(Lys748=) NC_000013.11:59911824:C:T Identity +NM_001126105.3:c.411C>A NP_001119577.1:p.Ile137= NC_000014.9:22812987:G:T p.(Ile137=) NC_000014.9:22812987:G:T p.(Ile137=) NC_000014.9:22812987:G:T Identity +NM_025074.7:c.7014G>A NP_079350.5:p.Val2338= NC_000004.12:78464567:G:A p.(Val2338=) NC_000004.12:78464567:G:A p.(Val2338=) NC_000004.12:78464567:G:A Identity +NM_006929.5:c.1440T>C NP_008860.4:p.Thr480= NC_000006.12:31963448:T:C p.(Thr480=) NC_000006.12:31963448:T:C p.(Thr480=) NC_000006.12:31963448:T:C Identity +NM_001363711.2:c.3288T>C NP_001350640.1:p.Tyr1096= NC_000015.10:45099788:A:G p.(Tyr1096=) NC_000015.10:45099788:A:G p.(Tyr1096=) NC_000015.10:45099788:A:G Identity +NM_001012509.4:c.18G>A NP_001012527.2:p.Gly6= NC_000005.10:33984565:C:T p.(Gly6=) NC_000005.10:33984565:C:T p.(Gly6=) NC_000005.10:33984565:C:T Identity +NM_000890.5:c.849G>A NP_000881.3:p.Lys283= NC_000011.10:128912121:G:A p.(Lys283=) NC_000011.10:128912121:G:A p.(Lys283=) NC_000011.10:128912121:G:A Identity +NM_000272.5:c.30C>G NP_000263.2:p.Leu10= NC_000002.12:110204938:G:C p.(Leu10=) NC_000002.12:110204938:G:C p.(Leu10=) NC_000002.12:110204938:G:C Identity +NM_001374385.1:c.3657C>T NP_001361314.1:p.Asp1219= NC_000018.10:57648586:G:A p.(Asp1219=) NC_000018.10:57648586:G:A p.(Asp1219=) NC_000018.10:57648586:G:A Identity +NM_001425299.1:c.442A>C NP_001412228.1:p.Arg148= NC_000011.10:78566202:T:G p.(Arg148=) NC_000011.10:78566202:T:G p.(Arg148=) NC_000011.10:78566202:T:G Identity +NM_001080414.4:c.5928G>A NP_001073883.2:p.Gly1976= NC_000014.9:91272783:C:T p.(Gly1976=) NC_000014.9:91272783:C:T p.(Gly1976=) NC_000014.9:91272783:C:T Identity +NM_001031734.4:c.456G>C NP_001026904.2:p.Leu152= NC_000019.10:10310590:C:G ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found ERR:AlignmentMapper(tx_ac=NM_001031734.4, alt_ac=NM_001031734.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031734.4, alt_ac=NM_001031734.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found +NM_000547.6:c.453C>T NP_000538.3:p.Tyr151= NC_000002.12:1436354:C:T p.(Tyr151=) NC_000002.12:1436354:C:T p.(Tyr151=) NC_000002.12:1436354:C:T Identity +NM_001080463.2:c.9909A>G NP_001073932.1:p.Lys3303= NC_000011.10:103243760:A:G p.(Lys3303=) NC_000011.10:103243760:A:G p.(Lys3303=) NC_000011.10:103243760:A:G Identity +NM_001243835.2:c.1512G>A NP_001230764.1:p.Ser504= NC_000002.12:191036221:C:T p.(Ser504=) NC_000002.12:191036221:C:T p.(Ser504=) NC_000002.12:191036221:C:T Identity +NM_001098484.3:c.3039G>A NP_001091954.1:p.Lys1013= NC_000004.12:71560193:G:A p.(Lys1013=) NC_000004.12:71560193:G:A p.(Lys1013=) NC_000004.12:71560193:G:A Identity +NM_012203.2:c.846C>T NP_036335.1:p.Leu282= NC_000009.12:37432118:C:T p.(Leu282=) NC_000009.12:37432118:C:T p.(Leu282=) NC_000009.12:37432118:C:T Identity +NM_000562.3:c.1194T>C NP_000553.1:p.His398= NC_000001.11:56906763:T:C p.(His398=) NC_000001.11:56906763:T:C p.(His398=) NC_000001.11:56906763:T:C Identity +NM_001289135.3:c.4401C>T NP_001276064.1:p.Cys1467= NC_000004.12:20618831:C:T p.(Cys1467=) NC_000004.12:20618831:C:T p.(Cys1467=) NC_000004.12:20618831:C:T Identity +NM_001316350.2:c.258A>G NP_001303279.1:p.Leu86= NC_000001.11:231262724:A:G p.(Leu86=) NC_000001.11:231262724:A:G p.(Leu86=) NC_000001.11:231262724:A:G Identity +NM_001362843.2:c.2724G>T NP_001349772.1:p.Pro908= NC_000022.11:41150182:G:T p.(Pro908=) NC_000022.11:41150182:G:T p.(Pro908=) NC_000022.11:41150182:G:T Identity +NM_207361.6:c.318G>A NP_997244.4:p.Ala106= NC_000013.11:38687661:G:A p.(Ala106=) NC_000013.11:38687661:G:A p.(Ala106=) NC_000013.11:38687661:G:A Identity +NM_014239.4:c.282C>A NP_055054.1:p.Gly94= NC_000014.9:75003392:C:A p.(Gly94=) NC_000014.9:75003392:C:A p.(Gly94=) NC_000014.9:75003392:C:A Identity +NM_018849.3:c.2346C>A NP_061337.1:p.Ile782= NC_000007.14:87420045:G:T p.(Ile782=) NC_000007.14:87420045:G:T p.(Ile782=) NC_000007.14:87420045:G:T Identity +NM_006623.4:c.1108C>T NP_006614.2:p.Leu370= NC_000001.11:119741795:C:T p.(Leu370=) NC_000001.11:119741795:C:T p.(Leu370=) NC_000001.11:119741795:C:T Identity +NM_001410705.1:c.4338C>T NP_001397634.1:p.Pro1446= NC_000023.11:153953765:G:A p.(Pro1446=) NC_000023.11:153953765:G:A p.(Pro1446=) NC_000023.11:153953765:G:A Identity +NM_001128431.4:c.75C>T NP_001121903.1:p.Thr25= NC_000008.11:22404784:C:T p.(Thr25=) NC_000008.11:22404784:C:T p.(Thr25=) NC_000008.11:22404784:C:T Identity +NM_002900.3:c.669C>T NP_002891.1:p.Ala223= NC_000010.11:47349152:C:T p.(Ala223=) NC_000010.11:47349152:C:T p.(Ala223=) NC_000010.11:47349152:C:T Identity +NM_001197104.2:c.6093C>T NP_001184033.1:p.Ile2031= NC_000011.10:118499847:C:T p.(Ile2031=) NC_000011.10:118499847:C:T p.(Ile2031=) NC_000011.10:118499847:C:T Identity +NM_020461.4:c.1710A>G NP_065194.3:p.Thr570= NC_000022.11:50226172:T:C p.(Thr570=) NC_000022.11:50226172:T:C p.(Thr570=) NC_000022.11:50226172:T:C Identity +NM_001130991.3:c.1101C>G NP_001124463.1:p.Leu367= NC_000011.10:119052315:G:C p.(Leu367=) NC_000011.10:119052315:G:C p.(Leu367=) NC_000011.10:119052315:G:C Identity +NM_001017979.3:c.330G>C NP_001017979.1:p.Val110= NC_000004.12:13460759:C:G p.(Val110=) NC_000004.12:13460759:C:G p.(Val110=) NC_000004.12:13460759:C:G Identity +NM_001199642.1:c.2193C>T NP_001186571.1:p.Ser731= NC_000003.12:123291196:G:A p.(Ser731=) NC_000003.12:123291196:G:A p.(Ser731=) NC_000003.12:123291196:G:A Identity +NM_000547.6:c.2286C>A NP_000538.3:p.Arg762= NC_000002.12:1496664:C:A p.(Arg762=) NC_000002.12:1496664:C:A p.(Arg762=) NC_000002.12:1496664:C:A Identity +NM_000520.6:c.162G>T NP_000511.2:p.Ala54= NC_000015.10:72375810:C:A p.(Ala54=) NC_000015.10:72375810:C:A p.(Ala54=) NC_000015.10:72375810:C:A Identity +NM_001379277.1:c.4707A>G NP_001366206.1:p.Glu1569= NC_000007.14:92097020:A:G p.(Glu1569=) NC_000007.14:92097020:A:G p.(Glu1569=) NC_000007.14:92097020:A:G Identity +NM_005477.3:c.2373G>T NP_005468.1:p.Val791= NC_000015.10:73323719:C:A p.(Val791=) NC_000015.10:73323719:C:A p.(Val791=) NC_000015.10:73323719:C:A Identity +NM_001166102.2:c.48A>G NP_001159574.1:p.Thr16= NC_000011.10:67608397:A:G p.(Thr16=) NC_000011.10:67608397:A:G p.(Thr16=) NC_000011.10:67608397:A:G Identity +NM_003235.5:c.4860G>A NP_003226.4:p.Thr1620= NC_000008.11:132933603:G:A p.(Thr1620=) NC_000008.11:132933603:G:A p.(Thr1620=) NC_000008.11:132933603:G:A Identity +NM_000539.3:c.1014C>T NP_000530.1:p.Ser338= NC_000003.12:129533684:C:T p.(Ser338=) NC_000003.12:129533684:C:T p.(Ser338=) NC_000003.12:129533684:C:T Identity +NM_013339.4:c.651G>A NP_037471.2:p.Lys217= NC_000001.11:63411301:G:A p.(Lys217=) NC_000001.11:63411301:G:A p.(Lys217=) NC_000001.11:63411301:G:A Identity +NM_000238.4:c.2547C>G NP_000229.1:p.Ser849= NC_000007.14:150948900:G:C p.(Ser849=) NC_000007.14:150948900:G:C p.(Ser849=) NC_000007.14:150948900:G:C Identity +NM_001199917.2:c.1011T>G NP_001186846.1:p.Leu337= NC_000006.12:83179827:A:C p.(Leu337=) NC_000006.12:83179827:A:C p.(Leu337=) NC_000006.12:83179827:A:C Identity +NM_174916.3:c.3606T>G NP_777576.1:p.Ser1202= NC_000015.10:43002607:A:C p.(Ser1202=) NC_000015.10:43002607:A:C p.(Ser1202=) NC_000015.10:43002607:A:C Identity +NM_001315529.2:c.2208C>G NP_001302458.1:p.Leu736= NC_000021.9:46363886:C:G p.(Leu736=) NC_000021.9:46363886:C:G p.(Leu736=) NC_000021.9:46363886:C:G Identity +NM_016239.4:c.9129C>T NP_057323.3:p.Thr3043= NC_000017.11:18158969:C:T p.(Thr3043=) NC_000017.11:18158969:C:T p.(Thr3043=) NC_000017.11:18158969:C:T Identity +NM_001139.3:c.180C>T NP_001130.1:p.Asp60= NC_000017.11:8086187:G:A p.(Asp60=) NC_000017.11:8086187:G:A p.(Asp60=) NC_000017.11:8086187:G:A Identity +NM_014510.3:c.10698A>T NP_055325.2:p.Gly3566= NC_000007.14:82949889:T:A p.(Gly3566=) NC_000007.14:82949889:T:A p.(Gly3566=) NC_000007.14:82949889:T:A Identity +NM_001345950.1:c.1179G>A NP_001332879.1:p.Leu393= NC_000010.11:102656972:G:A p.(Leu393=) NC_000010.11:102656972:G:A p.(Leu393=) NC_000010.11:102656972:G:A Identity +NM_001207055.2:c.519A>G NP_001193984.1:p.Ser173= NC_000020.11:32787441:A:G p.(Ser173=) NC_000020.11:32787441:A:G p.(Ser173=) NC_000020.11:32787441:A:G Identity +NM_001145770.3:c.24G>A NP_001139242.1:p.Gln8= NC_000016.10:57650310:G:A p.(Gln8=) NC_000016.10:57650310:G:A p.(Gln8=) NC_000016.10:57650310:G:A Identity +NM_001371986.1:c.4488T>C NP_001358915.1:p.Ser1496= NC_000002.12:209896319:T:C p.(Ser1496=) NC_000002.12:209896319:T:C p.(Ser1496=) NC_000002.12:209896319:T:C Identity +NM_001318245.2:c.4161G>A NP_001305174.1:p.Gln1387= NC_000022.11:25876265:G:A p.(Gln1387=) NC_000022.11:25876265:G:A p.(Gln1387=) NC_000022.11:25876265:G:A Identity +NM_001282751.2:c.399T>C NP_001269680.1:p.Thr133= NC_000001.11:172589188:T:C p.(Thr133=) NC_000001.11:172589188:T:C p.(Thr133=) NC_000001.11:172589188:T:C Identity +NM_001363711.2:c.3855C>T NP_001350640.1:p.Thr1285= NC_000015.10:45096052:G:A p.(Thr1285=) NC_000015.10:45096052:G:A p.(Thr1285=) NC_000015.10:45096052:G:A Identity +NM_020999.4:c.402G>T NP_066279.2:p.Ala134= NC_000010.11:69572641:C:A p.(Ala134=) NC_000010.11:69572641:C:A p.(Ala134=) NC_000010.11:69572641:C:A Identity +NM_006397.3:c.348G>A NP_006388.2:p.Leu116= NC_000019.10:12807442:G:A p.(Leu116=) NC_000019.10:12807442:G:A p.(Leu116=) NC_000019.10:12807442:G:A Identity +NM_001271.4:c.2019T>C NP_001262.3:p.Asp673= NC_000015.10:92967342:T:C p.(Asp673=) NC_000015.10:92967342:T:C p.(Asp673=) NC_000015.10:92967342:T:C Identity +NM_001320923.2:c.399G>A NP_001307852.1:p.Lys133= NC_000001.11:64873453:C:T p.(Lys133=) NC_000001.11:64873453:C:T p.(Lys133=) NC_000001.11:64873453:C:T Identity +NM_004525.3:c.3228T>C NP_004516.2:p.His1076= NC_000002.12:169244894:A:G p.(His1076=) NC_000002.12:169244894:A:G p.(His1076=) NC_000002.12:169244894:A:G Identity +NM_003235.5:c.6915C>G NP_003226.4:p.Thr2305= NC_000008.11:133022028:C:G p.(Thr2305=) NC_000008.11:133022028:C:G p.(Thr2305=) NC_000008.11:133022028:C:G Identity +NM_000054.7:c.708G>C NP_000045.1:p.Leu236= NC_000023.11:153906213:G:C p.(Leu236=) NC_000023.11:153906213:G:C p.(Leu236=) NC_000023.11:153906213:G:C Identity +NM_000920.4:c.3387C>T NP_000911.2:p.Ala1129= NC_000011.10:66849048:G:A p.(Ala1129=) NC_000011.10:66849048:G:A p.(Ala1129=) NC_000011.10:66849048:G:A Identity +NM_001258205.2:c.1170C>T NP_001245134.1:p.Tyr390= NC_000017.11:3530098:G:A p.(Tyr390=) NC_000017.11:3530098:G:A p.(Tyr390=) NC_000017.11:3530098:G:A Identity +NM_207361.6:c.4293G>A NP_997244.4:p.Leu1431= NC_000013.11:38691636:G:A p.(Leu1431=) NC_000013.11:38691636:G:A p.(Leu1431=) NC_000013.11:38691636:G:A Identity +NM_001279353.2:c.954G>A NP_001266282.1:p.Val318= NC_000001.11:150092306:G:A p.(Val318=) NC_000001.11:150092306:G:A p.(Val318=) NC_000001.11:150092306:G:A Identity +NM_005094.4:c.1638C>T NP_005085.2:p.Gly546= NC_000009.12:128355659:C:T p.(Gly546=) NC_000009.12:128355659:C:T p.(Gly546=) NC_000009.12:128355659:C:T Identity +NM_001291970.2:c.33C>T NP_001278899.1:p.Leu11= NC_000006.12:43582351:C:T p.(Leu11=) NC_000006.12:43582351:C:T p.(Leu11=) NC_000006.12:43582351:C:T Identity +NM_001353765.2:c.921C>T NP_001340694.1:p.Asn307= NC_000002.12:29196808:G:A p.(Asn307=) NC_000002.12:29196808:G:A p.(Asn307=) NC_000002.12:29196808:G:A Identity +NM_001280787.1:c.411T>C NP_001267716.1:p.Ile137= NC_000009.12:133352458:A:G p.(Ile137=) NC_000009.12:133352458:A:G p.(Ile137=) NC_000009.12:133352458:A:G Identity +NM_000744.7:c.15C>T NP_000735.1:p.Gly5= NC_000020.11:63361150:G:A p.(Gly5=) NC_000020.11:63361150:G:A p.(Gly5=) NC_000020.11:63361150:G:A Identity +NM_001004334.4:c.5691C>T NP_001004334.3:p.Ser1897= NC_000017.11:38327877:G:A p.(Ser1897=) NC_000017.11:38327877:G:A p.(Ser1897=) NC_000017.11:38327877:G:A Identity +NM_138691.3:c.1602C>T NP_619636.2:p.Thr534= NC_000009.12:72805416:C:T p.(Thr534=) NC_000009.12:72805416:C:T p.(Thr534=) NC_000009.12:72805416:C:T Identity +NM_001194998.2:c.1989T>C NP_001181927.1:p.Phe663= NC_000015.10:48768247:A:G p.(Phe663=) NC_000015.10:48768247:A:G p.(Phe663=) NC_000015.10:48768247:A:G Identity +NM_001063.4:c.318A>G NP_001054.2:p.Ser106= NC_000003.12:133753695:A:G p.(Ser106=) NC_000003.12:133753695:A:G p.(Ser106=) NC_000003.12:133753695:A:G Identity +NM_015657.4:c.6421T>C NP_056472.2:p.Leu2141= NC_000002.12:214942985:A:G p.(Leu2141=) NC_000002.12:214942985:A:G p.(Leu2141=) NC_000002.12:214942985:A:G Identity +NM_031935.3:c.10482C>G NP_114141.2:p.Leu3494= NC_000001.11:186095429:C:G p.(Leu3494=) NC_000001.11:186095429:C:G p.(Leu3494=) NC_000001.11:186095429:C:G Identity +NM_001113378.2:c.342T>C NP_001106849.1:p.Ser114= NC_000015.10:89261637:T:C p.(Ser114=) NC_000015.10:89261637:T:C p.(Ser114=) NC_000015.10:89261637:T:C Identity +NM_001410705.1:c.5370G>A NP_001397634.1:p.Ala1790= NC_000023.11:153951865:C:T p.(Ala1790=) NC_000023.11:153951865:C:T p.(Ala1790=) NC_000023.11:153951865:C:T Identity +NM_003188.4:c.297A>G NP_003179.1:p.Pro99= NC_000006.12:90568557:T:C p.(Pro99=) NC_000006.12:90568557:T:C p.(Pro99=) NC_000006.12:90568557:T:C Identity +NM_173689.7:c.1530G>A NP_775960.4:p.Pro510= NC_000009.12:123370582:G:A p.(Pro510=) NC_000009.12:123370582:G:A p.(Pro510=) NC_000009.12:123370582:G:A Identity +NM_001292034.3:c.690A>G NP_001278963.1:p.Gln230= NC_000006.12:149378604:A:G p.(Gln230=) NC_000006.12:149378604:A:G p.(Gln230=) NC_000006.12:149378604:A:G Identity +NM_000350.3:c.5670C>T NP_000341.2:p.Phe1890= NC_000001.11:94010843:G:A p.(Phe1890=) NC_000001.11:94010843:G:A p.(Phe1890=) NC_000001.11:94010843:G:A Identity +NM_016239.4:c.2358C>G NP_057323.3:p.Leu786= NC_000017.11:18121157:C:G p.(Leu786=) NC_000017.11:18121157:C:G p.(Leu786=) NC_000017.11:18121157:C:G Identity +NM_004525.3:c.13023C>T NP_004516.2:p.Leu4341= NC_000002.12:169142758:G:A p.(Leu4341=) NC_000002.12:169142758:G:A p.(Leu4341=) NC_000002.12:169142758:G:A Identity +NM_001425749.1:c.1911C>T NP_001412678.1:p.Asn637= NC_000016.10:81910696:C:T p.(Asn637=) NC_000016.10:81910696:C:T p.(Asn637=) NC_000016.10:81910696:C:T Identity +NM_005876.5:c.6712C>T NP_005867.3:p.Leu2238= NC_000002.12:219484174:C:T p.(Leu2238=) NC_000002.12:219484174:C:T p.(Leu2238=) NC_000002.12:219484174:C:T Identity +NM_001077186.2:c.2871C>T NP_001070654.1:p.Gly957= NC_000019.10:50268303:C:T p.(Gly957=) NC_000019.10:50268303:C:T p.(Gly957=) NC_000019.10:50268303:C:T Identity +NM_000163.5:c.1866C>T NP_000154.1:p.Leu622= NC_000005.10:42719372:C:T p.(Leu622=) NC_000005.10:42719372:C:T p.(Leu622=) NC_000005.10:42719372:C:T Identity +NM_001243254.2:c.2106G>A NP_001230183.1:p.Gln702= NC_000011.10:9169900:C:T p.(Gln702=) NC_000011.10:9169900:C:T p.(Gln702=) NC_000011.10:9169900:C:T Identity +NM_000095.3:c.537G>A NP_000086.2:p.Thr179= NC_000019.10:18788904:C:T p.(Thr179=) NC_000019.10:18788904:C:T p.(Thr179=) NC_000019.10:18788904:C:T Identity +NM_001242581.2:c.1992C>T NP_001229510.1:p.His664= NC_000020.11:19990087:C:T p.(His664=) NC_000020.11:19990087:C:T p.(His664=) NC_000020.11:19990087:C:T Identity +NM_001350914.2:c.2718G>A NP_001337843.1:p.Thr906= NC_000007.14:158942001:G:A p.(Thr906=) NC_000007.14:158942001:G:A p.(Thr906=) NC_000007.14:158942001:G:A Identity +NM_001160227.2:c.1908G>A NP_001153699.1:p.Leu636= NC_000015.10:44628827:C:T p.(Leu636=) NC_000015.10:44628827:C:T p.(Leu636=) NC_000015.10:44628827:C:T Identity +NM_001378454.1:c.2028C>T NP_001365383.1:p.Leu676= NC_000002.12:73448554:C:T p.(Leu676=) NC_000002.12:73448554:C:T p.(Leu676=) NC_000002.12:73448554:C:T Identity +NM_001101802.3:c.237A>G NP_001095272.1:p.Gln79= NC_000011.10:45979882:T:C p.(Gln79=) NC_000011.10:45979882:T:C p.(Gln79=) NC_000011.10:45979882:T:C Identity +NM_001169109.2:c.423G>T NP_001162580.1:p.Leu141= NC_000022.11:50523988:C:A p.(Leu141=) NC_000022.11:50523988:C:A p.(Leu141=) NC_000022.11:50523988:C:A Identity +NM_001321732.2:c.846C>T NP_001308661.1:p.Val282= NC_000005.10:177513358:G:A p.(Val282=) NC_000005.10:177513358:G:A p.(Val282=) NC_000005.10:177513358:G:A Identity +NM_001080414.4:c.2964G>A NP_001073883.2:p.Glu988= NC_000014.9:91308392:C:T p.(Glu988=) NC_000014.9:91308392:C:T p.(Glu988=) NC_000014.9:91308392:C:T Identity +NM_001256007.3:c.1968A>G NP_001242936.1:p.Val656= NC_000007.14:108479289:T:C p.(Val656=) NC_000007.14:108479289:T:C p.(Val656=) NC_000007.14:108479289:T:C Identity +NM_000228.3:c.1215G>A NP_000219.2:p.Val405= NC_000001.11:209628107:C:T p.(Val405=) NC_000001.11:209628107:C:T p.(Val405=) NC_000001.11:209628107:C:T Identity +NM_016239.4:c.9717A>T NP_057323.3:p.Ile3239= NC_000017.11:18163767:A:T p.(Ile3239=) NC_000017.11:18163767:A:T p.(Ile3239=) NC_000017.11:18163767:A:T Identity +NM_004525.3:c.4128A>T NP_004516.2:p.Pro1376= NC_000002.12:169239692:T:A p.(Pro1376=) NC_000002.12:169239692:T:A p.(Pro1376=) NC_000002.12:169239692:T:A Identity +NM_001376.5:c.2743C>T NP_001367.2:p.Leu915= NC_000014.9:101988726:C:T p.(Leu915=) NC_000014.9:101988726:C:T p.(Leu915=) NC_000014.9:101988726:C:T Identity +NM_001166102.2:c.927C>T NP_001159574.1:p.Ile309= NC_000011.10:67611442:C:T p.(Ile309=) NC_000011.10:67611442:C:T p.(Ile309=) NC_000011.10:67611442:C:T Identity +NM_001424.6:c.432C>T NP_001415.1:p.Ile144= NC_000016.10:10532976:G:A p.(Ile144=) NC_000016.10:10532976:G:A p.(Ile144=) NC_000016.10:10532976:G:A Identity +NM_001128159.3:c.2124C>T NP_001121631.1:p.Leu708= NC_000017.11:521699:G:A p.(Leu708=) NC_000017.11:521699:G:A p.(Leu708=) NC_000017.11:521699:G:A Identity +NM_000494.4:c.114T>C NP_000485.3:p.Asn38= NC_000010.11:104077509:A:G p.(Asn38=) NC_000010.11:104077509:A:G p.(Asn38=) NC_000010.11:104077509:A:G Identity +NM_003737.4:c.4752G>A NP_003728.1:p.Leu1584= NC_000011.10:6630041:C:T p.(Leu1584=) NC_000011.10:6630041:C:T p.(Leu1584=) NC_000011.10:6630041:C:T Identity +NM_020529.3:c.526C>T NP_065390.1:p.Leu176= NC_000014.9:35403170:G:A p.(Leu176=) NC_000014.9:35403170:G:A p.(Leu176=) NC_000014.9:35403170:G:A Identity +NM_001080463.2:c.1747C>T NP_001073932.1:p.Leu583= NC_000011.10:103125184:C:T p.(Leu583=) NC_000011.10:103125184:C:T p.(Leu583=) NC_000011.10:103125184:C:T Identity +NM_001001396.3:c.1974C>A NP_001001396.1:p.Ile658= NC_000001.11:203711050:C:A p.(Ile658=) NC_000001.11:203711050:C:A p.(Ile658=) NC_000001.11:203711050:C:A Identity +NM_001197104.2:c.1707G>A NP_001184033.1:p.Pro569= NC_000011.10:118472865:G:A p.(Pro569=) NC_000011.10:118472865:G:A p.(Pro569=) NC_000011.10:118472865:G:A Identity +NM_000494.4:c.345C>T NP_000485.3:p.Gly115= NC_000010.11:104074217:G:A p.(Gly115=) NC_000010.11:104074217:G:A p.(Gly115=) NC_000010.11:104074217:G:A Identity +NM_005914.4:c.549T>C NP_005905.2:p.Asn183= NC_000008.11:47962810:T:C p.(Asn183=) NC_000008.11:47962810:T:C p.(Asn183=) NC_000008.11:47962810:T:C Identity +NM_017780.4:c.6681T>G NP_060250.2:p.Thr2227= NC_000008.11:60853405:T:G p.(Thr2227=) NC_000008.11:60853405:T:G p.(Thr2227=) NC_000008.11:60853405:T:G Identity +NM_000540.3:c.13137C>T NP_000531.2:p.Leu4379= NC_000019.10:38565470:C:T p.(Leu4379=) NC_000019.10:38565470:C:T p.(Leu4379=) NC_000019.10:38565470:C:T Identity +NM_002775.5:c.1086G>A NP_002766.1:p.Lys362= NC_000010.11:122508735:G:A p.(Lys362=) NC_000010.11:122508735:G:A p.(Lys362=) NC_000010.11:122508735:G:A Identity +NM_006431.3:c.24T>G NP_006422.1:p.Pro8= NC_000012.12:69586289:T:G p.(Pro8=) NC_000012.12:69586289:T:G p.(Pro8=) NC_000012.12:69586289:T:G Identity +NM_004946.3:c.390G>A NP_004937.1:p.Gln130= NC_000005.10:169674364:G:A p.(Gln130=) NC_000005.10:169674364:G:A p.(Gln130=) NC_000005.10:169674364:G:A Identity +NM_138477.4:c.408G>A NP_612486.2:p.Leu136= NC_000015.10:42736462:C:T p.(Leu136=) NC_000015.10:42736462:C:T p.(Leu136=) NC_000015.10:42736462:C:T Identity +NM_000875.5:c.2392T>C NP_000866.1:p.Leu798= NC_000015.10:98922337:T:C p.(Leu798=) NC_000015.10:98922337:T:C p.(Leu798=) NC_000015.10:98922337:T:C Identity +NM_001207014.3:c.732C>T NP_001193943.1:p.Asn244= NC_000011.10:75568948:C:T p.(Asn244=) NC_000011.10:75568948:C:T p.(Asn244=) NC_000011.10:75568948:C:T Identity +NM_012079.6:c.369G>A NP_036211.2:p.Leu123= NC_000008.11:144318880:C:T p.(Leu123=) NC_000008.11:144318880:C:T p.(Leu123=) NC_000008.11:144318880:C:T Identity +NM_015657.4:c.6153T>C NP_056472.2:p.Thr2051= NC_000002.12:214947553:A:G p.(Thr2051=) NC_000002.12:214947553:A:G p.(Thr2051=) NC_000002.12:214947553:A:G Identity +NM_005245.4:c.2796T>C NP_005236.2:p.Tyr932= NC_000004.12:186707031:A:G p.(Tyr932=) NC_000004.12:186707031:A:G p.(Tyr932=) NC_000004.12:186707031:A:G Identity +NM_000108.5:c.513T>A NP_000099.2:p.Thr171= NC_000007.14:107905434:T:A p.(Thr171=) NC_000007.14:107905434:T:A p.(Thr171=) NC_000007.14:107905434:T:A Identity +NM_175875.5:c.453C>G NP_787071.3:p.Pro151= NC_000019.10:45768391:G:C p.(Pro151=) NC_000019.10:45768391:G:C p.(Pro151=) NC_000019.10:45768391:G:C Identity +NM_001089.3:c.3270G>A NP_001080.2:p.Gln1090= NC_000016.10:2286701:C:T p.(Gln1090=) NC_000016.10:2286701:C:T p.(Gln1090=) NC_000016.10:2286701:C:T Identity +NM_001145844.1:c.513A>G NP_001139316.1:p.Pro171= NC_000003.12:78746769:T:C ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_001077397.1:c.405C>T NP_001070865.1:p.Ser135= NC_000001.11:234609089:G:A p.(Ser135=) NC_000001.11:234609089:G:A p.(Ser135=) NC_000001.11:234609089:G:A Identity +NM_001351846.2:c.2043G>A NP_001338775.1:p.Pro681= NC_000016.10:1506245:G:A p.(Pro681=) NC_000016.10:1506245:G:A p.(Pro681=) NC_000016.10:1506245:G:A Identity +NM_001943.5:c.558A>G NP_001934.2:p.Ala186= NC_000018.10:31522116:A:G p.(Ala186=) NC_000018.10:31522116:A:G p.(Ala186=) NC_000018.10:31522116:A:G Identity +NM_000170.3:c.2436C>T NP_000161.2:p.Pro812= NC_000009.12:6553388:G:A p.(Pro812=) NC_000009.12:6553388:G:A p.(Pro812=) NC_000009.12:6553388:G:A Identity +NM_001305275.2:c.4590G>A NP_001292204.1:p.Leu1530= NC_000001.11:1049640:G:A p.(Leu1530=) NC_000001.11:1049640:G:A p.(Leu1530=) NC_000001.11:1049640:G:A Identity +NM_001030004.3:c.1068G>A NP_001025175.1:p.Pro356= NC_000020.11:44424258:G:A p.(Pro356=) NC_000020.11:44424258:G:A p.(Pro356=) NC_000020.11:44424258:G:A Identity +NM_001330360.2:c.1737A>G NP_001317289.1:p.Ala579= NC_000023.11:24732419:A:G p.(Ala579=) NC_000023.11:24732419:A:G p.(Ala579=) NC_000023.11:24732419:A:G Identity +NM_005720.4:c.1116A>G NP_005711.1:p.Lys372= NC_000007.14:99394485:A:G p.(Lys372=) NC_000007.14:99394485:A:G p.(Lys372=) NC_000007.14:99394485:A:G Identity +NM_000091.5:c.72G>T NP_000082.2:p.Ala24= NC_000002.12:227164797:G:T p.(Ala24=) NC_000002.12:227164797:G:T p.(Ala24=) NC_000002.12:227164797:G:T Identity +NM_001195227.2:c.2928G>C NP_001182156.1:p.Leu976= NC_000019.10:49210743:G:C p.(Leu976=) NC_000019.10:49210743:G:C p.(Leu976=) NC_000019.10:49210743:G:C Identity +NM_014510.3:c.11199C>G NP_055325.2:p.Ser3733= NC_000007.14:82916786:G:C p.(Ser3733=) NC_000007.14:82916786:G:C p.(Ser3733=) NC_000007.14:82916786:G:C Identity +NM_001172644.2:c.4C>T NP_001166115.1:p.Leu2= NC_000016.10:66550057:G:A p.(Leu2=) NC_000016.10:66550057:G:A p.(Leu2=) NC_000016.10:66550057:G:A Identity +NM_032119.4:c.3678C>T NP_115495.3:p.Leu1226= NC_000005.10:90653251:C:T p.(Leu1226=) NC_000005.10:90653251:C:T p.(Leu1226=) NC_000005.10:90653251:C:T Identity +NM_005560.6:c.10231C>A NP_005551.3:p.Arg3411= NC_000020.11:62310951:G:T p.(Arg3411=) NC_000020.11:62310951:G:T p.(Arg3411=) NC_000020.11:62310951:G:T Identity +NM_001166133.2:c.666T>C NP_001159605.1:p.Ser222= NC_000004.12:78265086:T:C p.(Ser222=) NC_000004.12:78265086:T:C p.(Ser222=) NC_000004.12:78265086:T:C Identity +NM_001077397.1:c.469C>T NP_001070865.1:p.Leu157= NC_000001.11:234609025:G:A p.(Leu157=) NC_000001.11:234609025:G:A p.(Leu157=) NC_000001.11:234609025:G:A Identity +NM_001190709.2:c.1023A>G NP_001177638.1:p.Glu341= NC_000001.11:103022846:T:C p.(Glu341=) NC_000001.11:103022846:T:C p.(Glu341=) NC_000001.11:103022846:T:C Identity +NM_001171971.3:c.108C>T NP_001165442.1:p.Asn36= NC_000010.11:84195545:C:T p.(Asn36=) NC_000010.11:84195545:C:T p.(Asn36=) NC_000010.11:84195545:C:T Identity +NM_000081.4:c.5937G>A NP_000072.2:p.Gly1979= NC_000001.11:235766262:C:T p.(Gly1979=) NC_000001.11:235766262:C:T p.(Gly1979=) NC_000001.11:235766262:C:T Identity +NM_001039.4:c.843G>C NP_001030.2:p.Gly281= NC_000016.10:23194203:G:C p.(Gly281=) NC_000016.10:23194203:G:C p.(Gly281=) NC_000016.10:23194203:G:C Identity +NM_001425160.1:c.972C>T NP_001412089.1:p.Gly324= NC_000011.10:126276189:C:T p.(Gly324=) NC_000011.10:126276189:C:T p.(Gly324=) NC_000011.10:126276189:C:T Identity +NM_000254.3:c.2913C>T NP_000245.2:p.Asp971= NC_000001.11:236889241:C:T p.(Asp971=) NC_000001.11:236889241:C:T p.(Asp971=) NC_000001.11:236889241:C:T Identity +NM_001365819.1:c.4617T>C NP_001352748.1:p.Tyr1539= NC_000022.11:50454933:A:G p.(Tyr1539=) NC_000022.11:50454933:A:G p.(Tyr1539=) NC_000022.11:50454933:A:G Identity +NM_001113178.3:c.2559A>G NP_001106649.1:p.Gln853= NC_000016.10:69692386:A:G p.(Gln853=) NC_000016.10:69692386:A:G p.(Gln853=) NC_000016.10:69692386:A:G Identity +NM_001080414.4:c.3498C>T NP_001073883.2:p.Ala1166= NC_000014.9:91303837:G:A p.(Ala1166=) NC_000014.9:91303837:G:A p.(Ala1166=) NC_000014.9:91303837:G:A Identity +NM_000094.4:c.6057G>A NP_000085.1:p.Leu2019= NC_000003.12:48575461:C:T p.(Leu2019=) NC_000003.12:48575461:C:T p.(Leu2019=) NC_000003.12:48575461:C:T Identity +NM_001122757.3:c.207G>A NP_001116229.1:p.Thr69= NC_000003.12:87273431:C:T p.(Thr69=) NC_000003.12:87273431:C:T p.(Thr69=) NC_000003.12:87273431:C:T Identity +NM_001350234.2:c.2670T>C NP_001337163.1:p.Ile890= NC_000001.11:9724046:T:C p.(Ile890=) NC_000001.11:9724046:T:C p.(Ile890=) NC_000001.11:9724046:T:C Identity +NM_001195263.2:c.450A>G NP_001182192.1:p.Val150= NC_000010.11:101023527:T:C p.(Val150=) NC_000010.11:101023527:T:C p.(Val150=) NC_000010.11:101023527:T:C Identity +NM_004525.3:c.2970G>A NP_004516.2:p.Pro990= NC_000002.12:169246924:C:T p.(Pro990=) NC_000002.12:169246924:C:T p.(Pro990=) NC_000002.12:169246924:C:T Identity +NM_001199579.2:c.1656C>T NP_001186508.1:p.Ile552= NC_000022.11:38739411:G:A p.(Ile552=) NC_000022.11:38739411:G:A p.(Ile552=) NC_000022.11:38739411:G:A Identity +NM_000109.4:c.5877A>G NP_000100.3:p.Arg1959= NC_000023.11:32342120:T:C p.(Arg1959=) NC_000023.11:32342120:T:C p.(Arg1959=) NC_000023.11:32342120:T:C Identity +NM_000890.5:c.828C>A NP_000881.3:p.Ile276= NC_000011.10:128912100:C:A p.(Ile276=) NC_000011.10:128912100:C:A p.(Ile276=) NC_000011.10:128912100:C:A Identity +NM_001287489.2:c.1452T>C NP_001274418.1:p.Phe484= NC_000002.12:26482532:A:G p.(Phe484=) NC_000002.12:26482532:A:G p.(Phe484=) NC_000002.12:26482532:A:G Identity +NM_174916.3:c.4104C>G NP_777576.1:p.Thr1368= NC_000015.10:42983942:G:C p.(Thr1368=) NC_000015.10:42983942:G:C p.(Thr1368=) NC_000015.10:42983942:G:C Identity +NM_004629.2:c.1671T>G NP_004620.1:p.Thr557= NC_000009.12:35074459:A:C p.(Thr557=) NC_000009.12:35074459:A:C p.(Thr557=) NC_000009.12:35074459:A:C Identity +NM_001290307.3:c.1950C>T NP_001277236.1:p.Val650= NC_000005.10:138929295:C:T p.(Val650=) NC_000005.10:138929295:C:T p.(Val650=) NC_000005.10:138929295:C:T Identity +NM_001286414.3:c.1689C>T NP_001273343.1:p.His563= NC_000015.10:43401804:C:T p.(His563=) NC_000015.10:43401804:C:T p.(His563=) NC_000015.10:43401804:C:T Identity +NM_001166133.2:c.450A>G NP_001159605.1:p.Pro150= NC_000004.12:78252531:A:G p.(Pro150=) NC_000004.12:78252531:A:G p.(Pro150=) NC_000004.12:78252531:A:G Identity +NM_032119.4:c.8844A>C NP_115495.3:p.Ala2948= NC_000005.10:90710999:A:C p.(Ala2948=) NC_000005.10:90710999:A:C p.(Ala2948=) NC_000005.10:90710999:A:C Identity +NM_000528.4:c.2704C>T NP_000519.2:p.Leu902= NC_000019.10:12647558:G:A p.(Leu902=) NC_000019.10:12647558:G:A p.(Leu902=) NC_000019.10:12647558:G:A Identity +NM_001007468.3:c.777C>T NP_001007469.1:p.Ile259= NC_000022.11:23825232:C:T p.(Ile259=) NC_000022.11:23825232:C:T p.(Ile259=) NC_000022.11:23825232:C:T Identity +NM_000104.4:c.1015C>T NP_000095.2:p.Leu339= NC_000002.12:38074373:G:A p.(Leu339=) NC_000002.12:38074373:G:A p.(Leu339=) NC_000002.12:38074373:G:A Identity +NM_006015.6:c.6225A>G NP_006006.3:p.Pro2075= NC_000001.11:26780122:A:G p.(Pro2075=) NC_000001.11:26780122:A:G p.(Pro2075=) NC_000001.11:26780122:A:G Identity +NM_003737.4:c.5913C>T NP_003728.1:p.Arg1971= NC_000011.10:6627125:G:A p.(Arg1971=) NC_000011.10:6627125:G:A p.(Arg1971=) NC_000011.10:6627125:G:A Identity +NM_172089.4:c.90G>A NP_742086.1:p.Leu30= NC_000017.11:7549242:G:A p.(Leu30=) NC_000017.11:7549242:G:A p.(Leu30=) NC_000017.11:7549242:G:A Identity +NM_000540.3:c.5526C>G NP_000531.2:p.Leu1842= NC_000019.10:38486180:C:G p.(Leu1842=) NC_000019.10:38486180:C:G p.(Leu1842=) NC_000019.10:38486180:C:G Identity +NM_000183.3:c.1309T>C NP_000174.1:p.Leu437= NC_000002.12:26285490:T:C p.(Leu437=) NC_000002.12:26285490:T:C p.(Leu437=) NC_000002.12:26285490:T:C Identity +NM_001313915.2:c.2589A>G NP_001300844.1:p.Leu863= NC_000002.12:88562333:T:C p.(Leu863=) NC_000002.12:88562333:T:C p.(Leu863=) NC_000002.12:88562333:T:C Identity +NM_001139441.1:c.153C>T NP_001132913.1:p.Phe51= NC_000023.11:153720911:G:A p.(Phe51=) NC_000023.11:153720911:G:A p.(Phe51=) NC_000023.11:153720911:G:A Identity +NM_012213.3:c.1392C>T NP_036345.2:p.Asn464= NC_000016.10:83915398:C:T p.(Asn464=) NC_000016.10:83915398:C:T p.(Asn464=) NC_000016.10:83915398:C:T Identity +NM_001031847.3:c.528C>G NP_001027017.1:p.Val176= NC_000011.10:68804026:G:C p.(Val176=) NC_000011.10:68804026:G:C p.(Val176=) NC_000011.10:68804026:G:C Identity +NM_207361.6:c.2625C>T NP_997244.4:p.Gly875= NC_000013.11:38689968:C:T p.(Gly875=) NC_000013.11:38689968:C:T p.(Gly875=) NC_000013.11:38689968:C:T Identity +NM_001033604.2:c.342T>C NP_001028776.1:p.Asn114= NC_000007.14:33177490:T:C p.(Asn114=) NC_000007.14:33177490:T:C p.(Asn114=) NC_000007.14:33177490:T:C Identity +NM_001083116.3:c.1390C>A NP_001076585.1:p.Arg464= NC_000010.11:70598330:G:T p.(Arg464=) NC_000010.11:70598330:G:T p.(Arg464=) NC_000010.11:70598330:G:T Identity +NM_000494.4:c.2307A>G NP_000485.3:p.Pro769= NC_000010.11:104047766:T:C p.(Pro769=) NC_000010.11:104047766:T:C p.(Pro769=) NC_000010.11:104047766:T:C Identity +NM_001306079.2:c.171C>T NP_001293008.1:p.Ile57= NC_000002.12:27217964:C:T p.(Ile57=) NC_000002.12:27217964:C:T p.(Ile57=) NC_000002.12:27217964:C:T Identity +NM_001278055.2:c.2715A>G NP_001264984.1:p.Glu905= NC_000013.11:23340719:T:C p.(Glu905=) NC_000013.11:23340719:T:C p.(Glu905=) NC_000013.11:23340719:T:C Identity +NM_001040002.2:c.174G>A NP_001035091.1:p.Lys58= NC_000017.11:43643610:C:T p.(Lys58=) NC_000017.11:43643610:C:T p.(Lys58=) NC_000017.11:43643610:C:T Identity +NM_207361.6:c.6258C>T NP_997244.4:p.Asp2086= NC_000013.11:38848548:C:T p.(Asp2086=) NC_000013.11:38848548:C:T p.(Asp2086=) NC_000013.11:38848548:C:T Identity +NM_001414244.1:c.2688C>T NP_001401173.1:p.Ser896= NC_000012.12:12158931:G:A p.(Ser896=) NC_000012.12:12158931:G:A p.(Ser896=) NC_000012.12:12158931:G:A Identity +NM_032119.4:c.16461A>G NP_115495.3:p.Lys5487= NC_000005.10:90829035:A:G p.(Lys5487=) NC_000005.10:90829035:A:G p.(Lys5487=) NC_000005.10:90829035:A:G Identity +NM_000152.5:c.2007C>T NP_000143.2:p.Pro669= NC_000017.11:80112993:C:T p.(Pro669=) NC_000017.11:80112993:C:T p.(Pro669=) NC_000017.11:80112993:C:T Identity +NM_000426.4:c.9123C>G NP_000417.3:p.Val3041= NC_000006.12:129514506:C:G p.(Val3041=) NC_000006.12:129514506:C:G p.(Val3041=) NC_000006.12:129514506:C:G Identity +NM_001305878.2:c.2169C>T NP_001292807.1:p.Cys723= NC_000008.11:41943806:G:A p.(Cys723=) NC_000008.11:41943806:G:A p.(Cys723=) NC_000008.11:41943806:G:A Identity +NM_003737.4:c.4089T>G NP_003728.1:p.Gly1363= NC_000011.10:6630704:A:C p.(Gly1363=) NC_000011.10:6630704:A:C p.(Gly1363=) NC_000011.10:6630704:A:C Identity +NM_001382394.1:c.3681A>G NP_001369323.1:p.Gln1227= NC_000002.12:38986123:T:C p.(Gln1227=) NC_000002.12:38986123:T:C p.(Gln1227=) NC_000002.12:38986123:T:C Identity +NM_001345950.1:c.1206A>G NP_001332879.1:p.Pro402= NC_000010.11:102656999:A:G p.(Pro402=) NC_000010.11:102656999:A:G p.(Pro402=) NC_000010.11:102656999:A:G Identity +NM_000550.3:c.1566T>C NP_000541.1:p.Tyr522= NC_000009.12:12709133:T:C p.(Tyr522=) NC_000009.12:12709133:T:C p.(Tyr522=) NC_000009.12:12709133:T:C Identity +NM_000540.3:c.9765G>A NP_000531.2:p.Gly3255= NC_000019.10:38517437:G:A p.(Gly3255=) NC_000019.10:38517437:G:A p.(Gly3255=) NC_000019.10:38517437:G:A Identity +NM_003362.4:c.162C>G NP_003353.1:p.Ser54= NC_000012.12:109098487:C:G p.(Ser54=) NC_000012.12:109098487:C:G p.(Ser54=) NC_000012.12:109098487:C:G Identity +NM_005562.3:c.2865C>T NP_005553.2:p.Leu955= NC_000001.11:183238416:C:T p.(Leu955=) NC_000001.11:183238416:C:T p.(Leu955=) NC_000001.11:183238416:C:T Identity +NM_020312.4:c.465C>G NP_064708.1:p.Thr155= NC_000016.10:57456589:C:G p.(Thr155=) NC_000016.10:57456589:C:G p.(Thr155=) NC_000016.10:57456589:C:G Identity +NM_003850.3:c.570C>G NP_003841.1:p.Val190= NC_000013.11:47973356:G:C p.(Val190=) NC_000013.11:47973356:G:C p.(Val190=) NC_000013.11:47973356:G:C Identity +NM_000785.4:c.357C>T NP_000776.1:p.Cys119= NC_000012.12:57766035:G:A p.(Cys119=) NC_000012.12:57766035:G:A p.(Cys119=) NC_000012.12:57766035:G:A Identity +NM_001146039.2:c.375A>G NP_001139511.2:p.Leu125= NC_000001.11:170539522:A:G p.(Leu125=) NC_000001.11:170539522:A:G p.(Leu125=) NC_000001.11:170539522:A:G Identity +NM_001379081.2:c.2712A>C NP_001366010.1:p.Gly904= NC_000009.12:14812992:T:G p.(Gly904=) NC_000009.12:14812992:T:G p.(Gly904=) NC_000009.12:14812992:T:G Identity +NM_001100112.2:c.2208C>T NP_001093582.1:p.Ile736= NC_000017.11:10533604:G:A p.(Ile736=) NC_000017.11:10533604:G:A p.(Ile736=) NC_000017.11:10533604:G:A Identity +NM_001069.3:c.1233C>T NP_001060.1:p.Ala411= NC_000006.12:3153967:G:A p.(Ala411=) NC_000006.12:3153967:G:A p.(Ala411=) NC_000006.12:3153967:G:A Identity +NM_004525.3:c.10842C>T NP_004516.2:p.Asp3614= NC_000002.12:169174090:G:A p.(Asp3614=) NC_000002.12:169174090:G:A p.(Asp3614=) NC_000002.12:169174090:G:A Identity +NM_000059.4:c.7731A>G NP_000050.3:p.Lys2577= NC_000013.11:32357854:A:G p.(Lys2577=) NC_000013.11:32357854:A:G p.(Lys2577=) NC_000013.11:32357854:A:G Identity +NM_001167749.3:c.564C>T NP_001161221.1:p.Gly188= NC_000001.11:167880606:G:A p.(Gly188=) NC_000001.11:167880606:G:A p.(Gly188=) NC_000001.11:167880606:G:A Identity +NM_001113491.2:c.153A>G NP_001106963.1:p.Leu51= NC_000017.11:77402134:A:G p.(Leu51=) NC_000017.11:77402134:A:G p.(Leu51=) NC_000017.11:77402134:A:G Identity +NM_001167749.3:c.2265T>G NP_001161221.1:p.Gly755= NC_000001.11:167845845:A:C p.(Gly755=) NC_000001.11:167845845:A:C p.(Gly755=) NC_000001.11:167845845:A:C Identity +NM_000466.3:c.2967T>C NP_000457.1:p.Ile989= NC_000007.14:92494355:A:G p.(Ile989=) NC_000007.14:92494355:A:G p.(Ile989=) NC_000007.14:92494355:A:G Identity +NM_012203.2:c.813G>A NP_036335.1:p.Thr271= NC_000009.12:37432085:G:A p.(Thr271=) NC_000009.12:37432085:G:A p.(Thr271=) NC_000009.12:37432085:G:A Identity +NM_000274.4:c.897C>T NP_000265.1:p.Tyr299= NC_000010.11:124402929:G:A p.(Tyr299=) NC_000010.11:124402929:G:A p.(Tyr299=) NC_000010.11:124402929:G:A Identity +NM_198834.3:c.2625G>C NP_942131.1:p.Arg875= NC_000017.11:37244704:C:G p.(Arg875=) NC_000017.11:37244704:C:G p.(Arg875=) NC_000017.11:37244704:C:G Identity +NM_020778.5:c.3924A>C NP_065829.4:p.Thr1308= NC_000015.10:84859348:A:C p.(Thr1308=) NC_000015.10:84859348:A:C p.(Thr1308=) NC_000015.10:84859348:A:C Identity +NM_000293.3:c.2046T>C NP_000284.1:p.Phe682= NC_000016.10:47660668:T:C p.(Phe682=) NC_000016.10:47660668:T:C p.(Phe682=) NC_000016.10:47660668:T:C Identity +NM_001407296.1:c.2347_2349dup NP_001394225.1:p.Asp783_Ser784insAsp NC_000016.10:23629744:GTC:GTCGTC p.(Asp783dup) NC_000016.10:23629744:GTC:GTCGTC p.(Asp783dup) ERR:SPDI Analogous +NM_174916.3:c.720C>T NP_777576.1:p.His240= NC_000015.10:43067975:G:A p.(His240=) NC_000015.10:43067975:G:A p.(His240=) NC_000015.10:43067975:G:A Identity +NM_001367624.2:c.3921C>T NP_001354553.1:p.Gly1307= NC_000016.10:88431390:C:T p.(Gly1307=) NC_000016.10:88431390:C:T p.(Gly1307=) NC_000016.10:88431390:C:T Identity +NM_000494.4:c.3858C>T NP_000485.3:p.Ala1286= NC_000010.11:104034242:G:A p.(Ala1286=) NC_000010.11:104034242:G:A p.(Ala1286=) NC_000010.11:104034242:G:A Identity +NM_000495.5:c.1470A>G NP_000486.1:p.Ser490= NC_000023.11:108595554:A:G p.(Ser490=) NC_000023.11:108595554:A:G p.(Ser490=) NC_000023.11:108595554:A:G Identity +NM_080473.5:c.252C>G NP_536721.1:p.Ala84= NC_000020.11:62475269:G:C p.(Ala84=) NC_000020.11:62475269:G:C p.(Ala84=) NC_000020.11:62475269:G:C Identity +NM_001288607.2:c.2451C>T NP_001275536.1:p.Ala817= NC_000001.11:150558969:C:T p.(Ala817=) NC_000001.11:150558969:C:T p.(Ala817=) NC_000001.11:150558969:C:T Identity +NM_001194998.2:c.5019A>G NP_001181927.1:p.Lys1673= NC_000015.10:48738362:T:C p.(Lys1673=) NC_000015.10:48738362:T:C p.(Lys1673=) NC_000015.10:48738362:T:C Identity +NM_000381.4:c.624G>A NP_000372.1:p.Gln208= NC_000023.11:10566923:C:T p.(Gln208=) NC_000023.11:10566923:C:T p.(Gln208=) NC_000023.11:10566923:C:T Identity +NM_001410705.1:c.525C>T NP_001397634.1:p.Ile175= NC_000023.11:153963411:G:A p.(Ile175=) NC_000023.11:153963411:G:A p.(Ile175=) NC_000023.11:153963411:G:A Identity +NM_001164507.2:c.24138G>A NP_001157979.2:p.Gly8046= NC_000002.12:151498328:C:T p.(Gly8046=) NC_000002.12:151498328:C:T p.(Gly8046=) NC_000002.12:151498328:C:T Identity +NM_004525.3:c.12550C>T NP_004516.2:p.Leu4184= NC_000002.12:169150937:G:A p.(Leu4184=) NC_000002.12:169150937:G:A p.(Leu4184=) NC_000002.12:169150937:G:A Identity +NM_174916.3:c.4950T>C NP_777576.1:p.Val1650= NC_000015.10:42952333:A:G p.(Val1650=) NC_000015.10:42952333:A:G p.(Val1650=) NC_000015.10:42952333:A:G Identity +NM_015346.4:c.1465C>T NP_056161.2:p.Leu489= NC_000014.9:67802252:G:A p.(Leu489=) NC_000014.9:67802252:G:A p.(Leu489=) NC_000014.9:67802252:G:A Identity +NM_001288705.3:c.933G>A NP_001275634.1:p.Gln311= NC_000005.10:150073449:C:T p.(Gln311=) NC_000005.10:150073449:C:T p.(Gln311=) NC_000005.10:150073449:C:T Identity +NM_001089.3:c.1848C>A NP_001080.2:p.Ile616= NC_000016.10:2298433:G:T p.(Ile616=) NC_000016.10:2298433:G:T p.(Ile616=) NC_000016.10:2298433:G:T Identity +NM_001351018.2:c.885A>G NP_001337947.1:p.Ala295= NC_000012.12:122244619:T:C p.(Ala295=) NC_000012.12:122244619:T:C p.(Ala295=) NC_000012.12:122244619:T:C Identity +NM_001440.4:c.105G>A NP_001431.1:p.Thr35= NC_000008.11:28716163:G:A p.(Thr35=) NC_000008.11:28716163:G:A p.(Thr35=) NC_000008.11:28716163:G:A Identity +NM_018706.7:c.2382T>C NP_061176.4:p.Asp794= NC_000010.11:12117734:T:C p.(Asp794=) NC_000010.11:12117734:T:C p.(Asp794=) NC_000010.11:12117734:T:C Identity +NM_001204824.2:c.2013C>T NP_001191753.1:p.Ser671= NC_000008.11:132129507:G:A p.(Ser671=) NC_000008.11:132129507:G:A p.(Ser671=) NC_000008.11:132129507:G:A Identity +NM_020533.3:c.438G>A NP_065394.1:p.Arg146= NC_000019.10:7526792:G:A p.(Arg146=) NC_000019.10:7526792:G:A p.(Arg146=) NC_000019.10:7526792:G:A Identity +NM_001042771.3:c.88C>T NP_001036236.1:p.Leu30= NC_000001.11:32274416:C:T p.(Leu30=) NC_000001.11:32274416:C:T p.(Leu30=) NC_000001.11:32274416:C:T Identity +NM_001256317.3:c.1038A>T NP_001243246.1:p.Thr346= NC_000021.9:42380126:T:A p.(Thr346=) NC_000021.9:42380126:T:A p.(Thr346=) NC_000021.9:42380126:T:A Identity +NM_003482.4:c.12744C>G NP_003473.3:p.Thr4248= NC_000012.12:49031960:G:C p.(Thr4248=) NC_000012.12:49031960:G:C p.(Thr4248=) NC_000012.12:49031960:G:C Identity +NM_001321120.2:c.456G>T NP_001308049.1:p.Pro152= NC_000017.11:61467563:G:T p.(Pro152=) NC_000017.11:61467563:G:T p.(Pro152=) NC_000017.11:61467563:G:T Identity +NM_001024847.3:c.576G>A NP_001020018.1:p.Val192= NC_000003.12:30671683:G:A p.(Val192=) NC_000003.12:30671683:G:A p.(Val192=) NC_000003.12:30671683:G:A Identity +NM_001031689.3:c.354A>G NP_001026859.1:p.Leu118= NC_000009.12:26928397:T:C p.(Leu118=) NC_000009.12:26928397:T:C p.(Leu118=) NC_000009.12:26928397:T:C Identity +NM_000091.5:c.120C>T NP_000082.2:p.Phe40= NC_000002.12:227237999:C:T p.(Phe40=) NC_000002.12:227237999:C:T p.(Phe40=) NC_000002.12:227237999:C:T Identity +NM_001318245.2:c.5139G>A NP_001305174.1:p.Lys1713= NC_000022.11:25903818:G:A p.(Lys1713=) NC_000022.11:25903818:G:A p.(Lys1713=) NC_000022.11:25903818:G:A Identity +NM_001190720.3:c.1144C>A NP_001177649.2:p.Arg382= NC_000008.11:42318646:C:A p.(Arg382=) NC_000008.11:42318646:C:A p.(Arg382=) NC_000008.11:42318646:C:A Identity +NM_001178102.2:c.183T>C NP_001171573.1:p.Cys61= NC_000005.10:122075408:A:G p.(Cys61=) NC_000005.10:122075408:A:G p.(Cys61=) NC_000005.10:122075408:A:G Identity +NM_002764.4:c.594G>A NP_002755.1:p.Lys198= NC_000023.11:107645239:G:A p.(Lys198=) NC_000023.11:107645239:G:A p.(Lys198=) NC_000023.11:107645239:G:A Identity +NM_001164317.2:c.5910G>C NP_001157789.1:p.Thr1970= NC_000003.12:58148293:G:C p.(Thr1970=) NC_000003.12:58148293:G:C p.(Thr1970=) NC_000003.12:58148293:G:C Identity +NM_012079.6:c.1227G>A NP_036211.2:p.Leu409= NC_000008.11:144317042:C:T p.(Leu409=) NC_000008.11:144317042:C:T p.(Leu409=) NC_000008.11:144317042:C:T Identity +NM_001193307.2:c.159T>C NP_001180236.1:p.His53= NC_000007.14:93105938:A:G p.(His53=) NC_000007.14:93105938:A:G p.(His53=) NC_000007.14:93105938:A:G Identity +NM_001320974.2:c.294G>A NP_001307903.1:p.Ser98= NC_000010.11:99727541:C:T p.(Ser98=) NC_000010.11:99727541:C:T p.(Ser98=) NC_000010.11:99727541:C:T Identity +NM_001272049.2:c.789C>T NP_001258978.1:p.Arg263= NC_000016.10:3674434:G:A p.(Arg263=) NC_000016.10:3674434:G:A p.(Arg263=) NC_000016.10:3674434:G:A Identity +NM_001261826.3:c.2718C>T NP_001248755.1:p.Asp906= NC_000019.10:2112928:G:A p.(Asp906=) NC_000019.10:2112928:G:A p.(Asp906=) NC_000019.10:2112928:G:A Identity +NM_001291411.2:c.948G>A NP_001278340.2:p.Val316= NC_000021.9:33550178:G:A p.(Val316=) NC_000021.9:33550178:G:A p.(Val316=) NC_000021.9:33550178:G:A Identity +NM_005618.4:c.1167C>T NP_005609.3:p.Tyr389= NC_000006.12:170285000:G:A p.(Tyr389=) NC_000006.12:170285000:G:A p.(Tyr389=) NC_000006.12:170285000:G:A Identity +NM_001258206.2:c.786C>T NP_001245135.1:p.Gly262= NC_000019.10:6825364:C:T p.(Gly262=) NC_000019.10:6825364:C:T p.(Gly262=) NC_000019.10:6825364:C:T Identity +NM_001350748.2:c.30G>A NP_001337677.1:p.Val10= NC_000013.11:101399096:C:T p.(Val10=) NC_000013.11:101399096:C:T p.(Val10=) NC_000013.11:101399096:C:T Identity +NM_138295.5:c.7647C>A NP_612152.1:p.Gly2549= NC_000007.14:47809511:G:T p.(Gly2549=) NC_000007.14:47809511:G:T p.(Gly2549=) NC_000007.14:47809511:G:T Identity +NM_025074.7:c.7659A>G NP_079350.5:p.Ser2553= NC_000004.12:78473573:A:G p.(Ser2553=) NC_000004.12:78473573:A:G p.(Ser2553=) NC_000004.12:78473573:A:G Identity +NM_001063.4:c.684T>A NP_001054.2:p.Thr228= NC_000003.12:133756329:T:A p.(Thr228=) NC_000003.12:133756329:T:A p.(Thr228=) NC_000003.12:133756329:T:A Identity +NM_001084.5:c.2127C>T NP_001075.1:p.Leu709= NC_000007.14:101206370:G:A p.(Leu709=) NC_000007.14:101206370:G:A p.(Leu709=) NC_000007.14:101206370:G:A Identity +NM_001127207.2:c.2775C>G NP_001120679.1:p.Thr925= NC_000002.12:216482886:C:G p.(Thr925=) NC_000002.12:216482886:C:G p.(Thr925=) NC_000002.12:216482886:C:G Identity +NM_004423.4:c.1764G>A NP_004414.3:p.Glu588= NC_000003.12:184170367:G:A p.(Glu588=) NC_000003.12:184170367:G:A p.(Glu588=) NC_000003.12:184170367:G:A Identity +NM_001164317.2:c.3417G>A NP_001157789.1:p.Ser1139= NC_000003.12:58123382:G:A p.(Ser1139=) NC_000003.12:58123382:G:A p.(Ser1139=) NC_000003.12:58123382:G:A Identity +NM_000104.4:c.933T>G NP_000095.2:p.Gly311= NC_000002.12:38074455:A:C p.(Gly311=) NC_000002.12:38074455:A:C p.(Gly311=) NC_000002.12:38074455:A:C Identity +NM_001042749.2:c.1170A>G NP_001036214.1:p.Ala390= NC_000023.11:124051367:A:G p.(Ala390=) NC_000023.11:124051367:A:G p.(Ala390=) NC_000023.11:124051367:A:G Identity +NM_017433.5:c.2196G>A NP_059129.3:p.Leu732= NC_000010.11:26128471:G:A p.(Leu732=) NC_000010.11:26128471:G:A p.(Leu732=) NC_000010.11:26128471:G:A Identity +NM_001271696.3:c.2055C>T NP_001258625.1:p.Ala685= NC_000023.11:75053573:G:A p.(Ala685=) NC_000023.11:75053573:G:A p.(Ala685=) NC_000023.11:75053573:G:A Identity +NM_001319667.1:c.573C>T NP_001306596.1:p.Ser191= NC_000001.11:169468690:G:A p.(Ser191=) NC_000001.11:169468690:G:A p.(Ser191=) NC_000001.11:169468690:G:A Identity +NM_005198.5:c.504C>T NP_005189.2:p.Ala168= NC_000022.11:50581496:G:A p.(Ala168=) NC_000022.11:50581496:G:A p.(Ala168=) NC_000022.11:50581496:G:A Identity +NM_016013.4:c.312T>C NP_057097.2:p.His104= NC_000015.10:41396747:A:G p.(His104=) NC_000015.10:41396747:A:G p.(His104=) NC_000015.10:41396747:A:G Identity +NM_001318872.2:c.333G>C NP_001305801.1:p.Ser111= NC_000006.12:5368902:G:C p.(Ser111=) NC_000006.12:5368902:G:C p.(Ser111=) NC_000006.12:5368902:G:C Identity +NM_001321979.2:c.705G>A NP_001308908.1:p.Gln235= NC_000010.11:26746439:G:A p.(Gln235=) NC_000010.11:26746439:G:A p.(Gln235=) NC_000010.11:26746439:G:A Identity +NM_000227.6:c.3144A>G NP_000218.3:p.Arg1048= NC_000018.10:23920981:A:G p.(Arg1048=) NC_000018.10:23920981:A:G p.(Arg1048=) NC_000018.10:23920981:A:G Identity +NM_001184976.2:c.1152A>G NP_001171905.1:p.Ala384= NC_000012.12:54517901:A:G p.(Ala384=) NC_000012.12:54517901:A:G p.(Ala384=) NC_000012.12:54517901:A:G Identity +NM_000547.6:c.1683G>A NP_000538.3:p.Thr561= NC_000002.12:1487905:G:A p.(Thr561=) NC_000002.12:1487905:G:A p.(Thr561=) NC_000002.12:1487905:G:A Identity +NM_000350.3:c.2367G>A NP_000341.2:p.Glu789= NC_000001.11:94056615:C:T p.(Glu789=) NC_000001.11:94056615:C:T p.(Glu789=) NC_000001.11:94056615:C:T Identity +NM_139057.4:c.390T>C NP_620688.2:p.Arg130= NC_000015.10:100341098:A:G p.(Arg130=) NC_000015.10:100341098:A:G p.(Arg130=) NC_000015.10:100341098:A:G Identity +NM_001193300.2:c.1281T>C NP_001180229.1:p.Asp427= NC_000001.11:156172971:T:C p.(Asp427=) NC_000001.11:156172971:T:C p.(Asp427=) NC_000001.11:156172971:T:C Identity +NM_001012720.2:c.12C>A NP_001012738.1:p.Thr4= NC_000010.11:84245101:C:A p.(Thr4=) NC_000010.11:84245101:C:A p.(Thr4=) NC_000010.11:84245101:C:A Identity +NM_001367624.2:c.7980C>T NP_001354553.1:p.Arg2660= NC_000016.10:88435449:C:T p.(Arg2660=) NC_000016.10:88435449:C:T p.(Arg2660=) NC_000016.10:88435449:C:T Identity +NM_004525.3:c.10452A>G NP_004516.2:p.Pro3484= NC_000002.12:169176529:T:C p.(Pro3484=) NC_000002.12:169176529:T:C p.(Pro3484=) NC_000002.12:169176529:T:C Identity +NM_000720.4:c.3027G>C NP_000711.1:p.Leu1009= NC_000003.12:53744787:G:C p.(Leu1009=) NC_000003.12:53744787:G:C p.(Leu1009=) NC_000003.12:53744787:G:C Identity +NM_001145770.3:c.1086C>T NP_001139242.1:p.Ser362= NC_000016.10:57656535:C:T p.(Ser362=) NC_000016.10:57656535:C:T p.(Ser362=) NC_000016.10:57656535:C:T Identity +NM_001063.4:c.1905G>A NP_001054.2:p.Ser635= NC_000003.12:133777080:G:A p.(Ser635=) NC_000003.12:133777080:G:A p.(Ser635=) NC_000003.12:133777080:G:A Identity +NM_001317195.3:c.1536C>T NP_001304124.1:p.Asn512= NC_000016.10:68685315:C:T p.(Asn512=) NC_000016.10:68685315:C:T p.(Asn512=) NC_000016.10:68685315:C:T Identity +NM_001305275.2:c.6150G>A NP_001292204.1:p.Leu2050= NC_000001.11:1054923:G:A p.(Leu2050=) NC_000001.11:1054923:G:A p.(Leu2050=) NC_000001.11:1054923:G:A Identity +NM_001367624.2:c.11436G>A NP_001354553.1:p.Glu3812= NC_000016.10:88438905:G:A p.(Glu3812=) NC_000016.10:88438905:G:A p.(Glu3812=) NC_000016.10:88438905:G:A Identity +NM_005914.4:c.603T>C NP_005905.2:p.Asn201= NC_000008.11:47962949:T:C p.(Asn201=) NC_000008.11:47962949:T:C p.(Asn201=) NC_000008.11:47962949:T:C Identity +NM_001311193.2:c.309G>C NP_001298122.2:p.Gly103= NC_000001.11:186894141:G:C p.(Gly103=) NC_000001.11:186894141:G:C p.(Gly103=) NC_000001.11:186894141:G:C Identity +NM_001168249.1:c.4485A>G NP_001161721.1:p.Gln1495= NC_000001.11:102886831:T:C ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001322042.2:c.2436T>C NP_001308971.2:p.Ser812= NC_000008.11:6621674:T:C p.(Ser812=) NC_000008.11:6621674:T:C p.(Ser812=) NC_000008.11:6621674:T:C Identity +NM_000494.4:c.795C>T NP_000485.3:p.Ser265= NC_000010.11:104063789:G:A p.(Ser265=) NC_000010.11:104063789:G:A p.(Ser265=) NC_000010.11:104063789:G:A Identity +NM_001204831.3:c.1716G>C NP_001191760.1:p.Ala572= NC_000003.12:43549800:C:G p.(Ala572=) NC_000003.12:43549800:C:G p.(Ala572=) NC_000003.12:43549800:C:G Identity +NM_031942.5:c.714G>A NP_114148.3:p.Pro238= NC_000002.12:173364808:G:A p.(Pro238=) NC_000002.12:173364808:G:A p.(Pro238=) NC_000002.12:173364808:G:A Identity +NM_000494.4:c.1872G>T NP_000485.3:p.Gly624= NC_000010.11:104053097:C:A p.(Gly624=) NC_000010.11:104053097:C:A p.(Gly624=) NC_000010.11:104053097:C:A Identity +NM_000601.6:c.1602G>A NP_000592.3:p.Gln534= NC_000007.14:81707303:C:T p.(Gln534=) NC_000007.14:81707303:C:T p.(Gln534=) NC_000007.14:81707303:C:T Identity +NM_138694.4:c.195G>C NP_619639.3:p.Val65= NC_000006.12:52082477:C:G p.(Val65=) NC_000006.12:52082477:C:G p.(Val65=) NC_000006.12:52082477:C:G Identity +NM_001367830.1:c.1221C>T NP_001354759.1:p.Ser407= NC_000019.10:11243593:G:A p.(Ser407=) NC_000019.10:11243593:G:A p.(Ser407=) NC_000019.10:11243593:G:A Identity +NM_001280557.2:c.153G>C NP_001267486.1:p.Leu51= NC_000008.11:144412926:C:G p.(Leu51=) NC_000008.11:144412926:C:G p.(Leu51=) NC_000008.11:144412926:C:G Identity +NM_015909.4:c.1516C>A NP_056993.2:p.Arg506= NC_000002.12:15474149:G:T p.(Arg506=) NC_000002.12:15474149:G:T p.(Arg506=) NC_000002.12:15474149:G:T Identity +NM_001277269.2:c.5622C>G NP_001264198.1:p.Pro1874= NC_000011.10:17610885:C:G p.(Pro1874=) NC_000011.10:17610885:C:G p.(Pro1874=) NC_000011.10:17610885:C:G Identity +NM_001143990.2:c.972G>A NP_001137462.1:p.Gln324= NC_000017.11:7702359:G:A p.(Gln324=) NC_000017.11:7702359:G:A p.(Gln324=) NC_000017.11:7702359:G:A Identity +NM_001244808.3:c.909T>C NP_001231737.1:p.Tyr303= NC_000003.12:71015613:A:G p.(Tyr303=) NC_000003.12:71015613:A:G p.(Tyr303=) NC_000003.12:71015613:A:G Identity +NM_001199.4:c.1947G>T NP_001190.1:p.Val649= NC_000008.11:22197259:G:T p.(Val649=) NC_000008.11:22197259:G:T p.(Val649=) NC_000008.11:22197259:G:T Identity +NM_001291970.2:c.387A>C NP_001278899.1:p.Leu129= NC_000006.12:43587385:A:C p.(Leu129=) NC_000006.12:43587385:A:C p.(Leu129=) NC_000006.12:43587385:A:C Identity +NM_000159.4:c.624G>A NP_000150.1:p.Gly208= NC_000019.10:12896109:G:A p.(Gly208=) NC_000019.10:12896109:G:A p.(Gly208=) NC_000019.10:12896109:G:A Identity +NM_014918.5:c.138G>A NP_055733.2:p.Glu46= NC_000015.10:101251318:C:T p.(Glu46=) NC_000015.10:101251318:C:T p.(Glu46=) NC_000015.10:101251318:C:T Identity +NM_001197104.2:c.3468G>A NP_001184033.1:p.Gly1156= NC_000011.10:118478099:G:A p.(Gly1156=) NC_000011.10:118478099:G:A p.(Gly1156=) NC_000011.10:118478099:G:A Identity +NM_001411067.1:c.1938G>A NP_001397996.1:p.Arg646= NC_000017.11:8232912:C:T p.(Arg646=) NC_000017.11:8232912:C:T p.(Arg646=) NC_000017.11:8232912:C:T Identity +NM_033448.3:c.834C>A NP_258259.1:p.Ser278= NC_000012.12:52548295:G:T p.(Ser278=) NC_000012.12:52548295:G:T p.(Ser278=) NC_000012.12:52548295:G:T Identity +NM_001100913.3:c.1806A>G NP_001094383.2:p.Leu602= NC_000014.9:105384377:A:G p.(Leu602=) NC_000014.9:105384377:A:G p.(Leu602=) NC_000014.9:105384377:A:G Identity +NM_021032.5:c.147C>T NP_066360.1:p.Phe49= NC_000003.12:192408076:G:A p.(Phe49=) NC_000003.12:192408076:G:A p.(Phe49=) NC_000003.12:192408076:G:A Identity +NM_003036.4:c.1230C>T NP_003027.1:p.Ser410= NC_000001.11:2303857:C:T p.(Ser410=) NC_000001.11:2303857:C:T p.(Ser410=) NC_000001.11:2303857:C:T Identity +NM_000902.5:c.1500G>A NP_000893.2:p.Leu500= NC_000003.12:155148551:G:A p.(Leu500=) NC_000003.12:155148551:G:A p.(Leu500=) NC_000003.12:155148551:G:A Identity +NM_001195286.2:c.363G>A NP_001182215.1:p.Pro121= NC_000006.12:394966:G:A p.(Pro121=) NC_000006.12:394966:G:A p.(Pro121=) NC_000006.12:394966:G:A Identity +NM_001379291.1:c.2874G>A NP_001366220.1:p.Leu958= NC_000019.10:15243194:C:T p.(Leu958=) NC_000019.10:15243194:C:T p.(Leu958=) NC_000019.10:15243194:C:T Identity +NM_001425160.1:c.672C>T NP_001412089.1:p.Asp224= NC_000011.10:126275336:C:T p.(Asp224=) NC_000011.10:126275336:C:T p.(Asp224=) NC_000011.10:126275336:C:T Identity +NM_005094.4:c.1122C>T NP_005085.2:p.Arg374= NC_000009.12:128353158:C:T p.(Arg374=) NC_000009.12:128353158:C:T p.(Arg374=) NC_000009.12:128353158:C:T Identity +NM_001178130.3:c.6G>A NP_001171601.1:p.Leu2= NC_000004.12:109913340:G:A p.(Leu2=) NC_000004.12:109913340:G:A p.(Leu2=) NC_000004.12:109913340:G:A Identity +NM_032806.6:c.1149G>A NP_116195.2:p.Leu383= NC_000003.12:43080282:C:T p.(Leu383=) NC_000003.12:43080282:C:T p.(Leu383=) NC_000003.12:43080282:C:T Identity +NM_032119.4:c.1293G>A NP_115495.3:p.Ala431= NC_000005.10:90628615:G:A p.(Ala431=) NC_000005.10:90628615:G:A p.(Ala431=) NC_000005.10:90628615:G:A Identity +NM_001291411.2:c.5463A>G NP_001278340.2:p.Ser1821= NC_000021.9:33554693:A:G p.(Ser1821=) NC_000021.9:33554693:A:G p.(Ser1821=) NC_000021.9:33554693:A:G Identity +NM_006516.4:c.309C>T NP_006507.2:p.Ala103= NC_000001.11:42930832:G:A p.(Ala103=) NC_000001.11:42930832:G:A p.(Ala103=) NC_000001.11:42930832:G:A Identity +NM_001001935.3:c.1020C>T NP_001001935.1:p.Asp340= NC_000018.10:46087013:G:A p.(Asp340=) NC_000018.10:46087013:G:A p.(Asp340=) NC_000018.10:46087013:G:A Identity +NM_003038.5:c.429C>T NP_003029.2:p.Ser143= NC_000002.12:64990071:C:T p.(Ser143=) NC_000002.12:64990071:C:T p.(Ser143=) NC_000002.12:64990071:C:T Identity +NM_000781.3:c.393G>A NP_000772.2:p.Gln131= NC_000015.10:74347931:C:T p.(Gln131=) NC_000015.10:74347931:C:T p.(Gln131=) NC_000015.10:74347931:C:T Identity +NM_000244.4:c.1308G>A NP_000235.3:p.Val436= NC_000011.10:64805090:C:T p.(Val436=) NC_000011.10:64805090:C:T p.(Val436=) NC_000011.10:64805090:C:T Identity +NM_013432.5:c.2328C>A NP_038460.4:p.Pro776= NC_000008.11:144436104:G:T p.(Pro776=) NC_000008.11:144436104:G:T p.(Pro776=) NC_000008.11:144436104:G:T Identity +NM_003265.3:c.2661T>A NP_003256.1:p.Gly887= NC_000004.12:186084818:T:A p.(Gly887=) NC_000004.12:186084818:T:A p.(Gly887=) NC_000004.12:186084818:T:A Identity +NM_173689.7:c.3447A>G NP_775960.4:p.Pro1149= NC_000009.12:123374635:A:G p.(Pro1149=) NC_000009.12:123374635:A:G p.(Pro1149=) NC_000009.12:123374635:A:G Identity +NM_004523.4:c.3003G>A NP_004514.2:p.Val1001= NC_000010.11:92650480:G:A p.(Val1001=) NC_000010.11:92650480:G:A p.(Val1001=) NC_000010.11:92650480:G:A Identity +NM_001244808.3:c.1293G>A NP_001231737.1:p.Thr431= NC_000003.12:70977882:C:T p.(Thr431=) NC_000003.12:70977882:C:T p.(Thr431=) NC_000003.12:70977882:C:T Identity +NM_001363711.2:c.2488C>T NP_001350640.1:p.Leu830= NC_000015.10:45104211:G:A p.(Leu830=) NC_000015.10:45104211:G:A p.(Leu830=) NC_000015.10:45104211:G:A Identity +NM_001410858.1:c.3111C>T NP_001397787.1:p.Phe1037= NC_000018.10:45917806:G:A p.(Phe1037=) NC_000018.10:45917806:G:A p.(Phe1037=) NC_000018.10:45917806:G:A Identity +NM_003014.4:c.174C>A NP_003005.2:p.Ile58= NC_000007.14:37916363:G:T p.(Ile58=) NC_000007.14:37916363:G:T p.(Ile58=) NC_000007.14:37916363:G:T Identity +NM_001367624.2:c.1929G>A NP_001354553.1:p.Glu643= NC_000016.10:88429398:G:A p.(Glu643=) NC_000016.10:88429398:G:A p.(Glu643=) NC_000016.10:88429398:G:A Identity +NM_015378.4:c.11268G>T NP_056193.2:p.Gly3756= NC_000001.11:12383052:G:T p.(Gly3756=) NC_000001.11:12383052:G:T p.(Gly3756=) NC_000001.11:12383052:G:T Identity +NM_030665.4:c.2775C>T NP_109590.3:p.Val925= NC_000017.11:17795722:C:T p.(Val925=) NC_000017.11:17795722:C:T p.(Val925=) NC_000017.11:17795722:C:T Identity +NM_001135597.2:c.5238G>A NP_001129069.1:p.Arg1746= NC_000002.12:55295906:C:T p.(Arg1746=) NC_000002.12:55295906:C:T p.(Arg1746=) NC_000002.12:55295906:C:T Identity +NM_006208.3:c.1755C>T NP_006199.2:p.Asn585= NC_000006.12:131877022:C:T p.(Asn585=) NC_000006.12:131877022:C:T p.(Asn585=) NC_000006.12:131877022:C:T Identity +NM_001195227.2:c.3067_3075del NP_001182156.1:p.Tyr1023_Gln1025del NC_000019.10:49211052:AGTACGAACAG:AG p.(Tyr1023_Gln1025del) NC_000019.10:49211052:AGTACGAACAG:AG p.(Tyr1023_Gln1025del) NC_000019.10:49211054:TACGAACAG: Identity +NM_000135.4:c.2043T>C NP_000126.2:p.Ser681= NC_000016.10:89771785:A:G p.(Ser681=) NC_000016.10:89771785:A:G p.(Ser681=) NC_000016.10:89771785:A:G Identity +NM_001291411.2:c.4605T>C NP_001278340.2:p.Asn1535= NC_000021.9:33553835:T:C p.(Asn1535=) NC_000021.9:33553835:T:C p.(Asn1535=) NC_000021.9:33553835:T:C Identity +NM_000070.3:c.1014C>T NP_000061.1:p.Val338= NC_000015.10:42392706:C:T p.(Val338=) NC_000015.10:42392706:C:T p.(Val338=) NC_000015.10:42392706:C:T Identity +NM_005763.4:c.1725T>A NP_005754.2:p.Thr575= NC_000007.14:122093088:A:T p.(Thr575=) NC_000007.14:122093088:A:T p.(Thr575=) NC_000007.14:122093088:A:T Identity +NM_001163022.3:c.1491C>T NP_001156494.1:p.Ser497= NC_000020.11:21232749:C:T p.(Ser497=) NC_000020.11:21232749:C:T p.(Ser497=) NC_000020.11:21232749:C:T Identity +NM_000453.3:c.1050C>T NP_000444.1:p.Gly350= NC_000019.10:17880944:C:T p.(Gly350=) NC_000019.10:17880944:C:T p.(Gly350=) NC_000019.10:17880944:C:T Identity +NM_001346897.2:c.1110G>C NP_001333826.1:p.Thr370= NC_000007.14:55157699:G:C p.(Thr370=) NC_000007.14:55157699:G:C p.(Thr370=) NC_000007.14:55157699:G:C Identity +NM_182493.3:c.84G>A NP_872299.2:p.Lys28= NC_000016.10:46748109:C:T p.(Lys28=) NC_000016.10:46748109:C:T p.(Lys28=) NC_000016.10:46748109:C:T Identity +NM_001172509.2:c.1558C>T NP_001165980.1:p.Leu520= NC_000002.12:199308941:G:A p.(Leu520=) NC_000002.12:199308941:G:A p.(Leu520=) NC_000002.12:199308941:G:A Identity +NM_014028.4:c.351C>T NP_054747.2:p.Pro117= NC_000006.12:108074300:G:A p.(Pro117=) NC_000006.12:108074300:G:A p.(Pro117=) NC_000006.12:108074300:G:A Identity +NM_001270949.2:c.573T>C NP_001257878.1:p.Asp191= NC_000018.10:62360005:T:C p.(Asp191=) NC_000018.10:62360005:T:C p.(Asp191=) NC_000018.10:62360005:T:C Identity +NM_174916.3:c.3837C>T NP_777576.1:p.Gly1279= NC_000015.10:42990040:G:A p.(Gly1279=) NC_000015.10:42990040:G:A p.(Gly1279=) NC_000015.10:42990040:G:A Identity +NM_001174116.3:c.777A>G NP_001167587.1:p.Ser259= NC_000015.10:51545735:T:C p.(Ser259=) NC_000015.10:51545735:T:C p.(Ser259=) NC_000015.10:51545735:T:C Identity +NM_000237.3:c.900G>T NP_000228.1:p.Gly300= NC_000008.11:19955964:G:T p.(Gly300=) NC_000008.11:19955964:G:T p.(Gly300=) NC_000008.11:19955964:G:T Identity +NM_001365819.1:c.1443G>A NP_001352748.1:p.Pro481= NC_000022.11:50464729:C:T p.(Pro481=) NC_000022.11:50464729:C:T p.(Pro481=) NC_000022.11:50464729:C:T Identity +NM_014639.4:c.705T>C NP_055454.1:p.Thr235= NC_000005.10:95536862:A:G p.(Thr235=) NC_000005.10:95536862:A:G p.(Thr235=) NC_000005.10:95536862:A:G Identity +NM_173689.7:c.3285C>G NP_775960.4:p.Val1095= NC_000009.12:123373815:C:G p.(Val1095=) NC_000009.12:123373815:C:G p.(Val1095=) NC_000009.12:123373815:C:G Identity +NM_198075.4:c.1134C>T NP_932341.1:p.Asp378= NC_000011.10:552184:C:T p.(Asp378=) NC_000011.10:552184:C:T p.(Asp378=) NC_000011.10:552184:C:T Identity +NM_001080517.3:c.1626T>C NP_001073986.1:p.Asp542= NC_000003.12:9447150:T:C p.(Asp542=) NC_000003.12:9447150:T:C p.(Asp542=) NC_000003.12:9447150:T:C Identity +NM_025074.7:c.10449C>T NP_079350.5:p.Ile3483= NC_000004.12:78519389:C:T p.(Ile3483=) NC_000004.12:78519389:C:T p.(Ile3483=) NC_000004.12:78519389:C:T Identity +NM_001164507.2:c.25536C>T NP_001157979.2:p.Gly8512= NC_000002.12:151485801:G:A p.(Gly8512=) NC_000002.12:151485801:G:A p.(Gly8512=) NC_000002.12:151485801:G:A Identity +NM_001080517.3:c.246G>A NP_001073986.1:p.Pro82= NC_000003.12:9434401:G:A p.(Pro82=) NC_000003.12:9434401:G:A p.(Pro82=) NC_000003.12:9434401:G:A Identity +NM_001126131.2:c.3219G>T NP_001119603.1:p.Pro1073= NC_000015.10:89318984:C:A p.(Pro1073=) NC_000015.10:89318984:C:A p.(Pro1073=) NC_000015.10:89318984:C:A Identity +NM_001146282.2:c.648C>T NP_001139754.1:p.Ala216= NC_000014.9:35013810:C:T p.(Ala216=) NC_000014.9:35013810:C:T p.(Ala216=) NC_000014.9:35013810:C:T Identity +NM_001099222.3:c.1419A>G NP_001092692.1:p.Lys473= NC_000009.12:27055693:A:G p.(Lys473=) NC_000009.12:27055693:A:G p.(Lys473=) NC_000009.12:27055693:A:G Identity +NM_001031847.3:c.2061C>T NP_001027017.1:p.Ser687= NC_000011.10:68760305:G:A p.(Ser687=) NC_000011.10:68760305:G:A p.(Ser687=) NC_000011.10:68760305:G:A Identity +NM_000453.3:c.1653C>T NP_000444.1:p.Gly551= NC_000019.10:17890886:C:T p.(Gly551=) NC_000019.10:17890886:C:T p.(Gly551=) NC_000019.10:17890886:C:T Identity +NM_032119.4:c.12624G>A NP_115495.3:p.Leu4208= NC_000005.10:90778000:G:A p.(Leu4208=) NC_000005.10:90778000:G:A p.(Leu4208=) NC_000005.10:90778000:G:A Identity +NM_001271684.2:c.285T>C NP_001258613.1:p.Thr95= NC_000001.11:99999357:T:C p.(Thr95=) NC_000001.11:99999357:T:C p.(Thr95=) NC_000001.11:99999357:T:C Identity +NM_207361.6:c.1060C>T NP_997244.4:p.Leu354= NC_000013.11:38688403:C:T p.(Leu354=) NC_000013.11:38688403:C:T p.(Leu354=) NC_000013.11:38688403:C:T Identity +NM_001244580.2:c.5091C>A NP_001231509.1:p.Ala1697= NC_000007.14:98949817:C:A p.(Ala1697=) NC_000007.14:98949817:C:A p.(Ala1697=) NC_000007.14:98949817:C:A Identity +NM_000335.5:c.2397C>G NP_000326.2:p.Ser799= NC_000003.12:38587438:G:C p.(Ser799=) NC_000003.12:38587438:G:C p.(Ser799=) NC_000003.12:38587438:G:C Identity +NM_001384474.1:c.2637G>T NP_001371403.1:p.Arg879= NC_000018.10:46560506:C:A p.(Arg879=) NC_000018.10:46560506:C:A p.(Arg879=) NC_000018.10:46560506:C:A Identity +NM_000456.3:c.153C>T NP_000447.2:p.Ser51= NC_000012.12:56002644:C:T p.(Ser51=) NC_000012.12:56002644:C:T p.(Ser51=) NC_000012.12:56002644:C:T Identity +NM_032119.4:c.717A>G NP_115495.3:p.Val239= NC_000005.10:90627254:A:G p.(Val239=) NC_000005.10:90627254:A:G p.(Val239=) NC_000005.10:90627254:A:G Identity +NM_170606.3:c.10140A>G NP_733751.2:p.Pro3380= NC_000007.14:152163436:T:C p.(Pro3380=) NC_000007.14:152163436:T:C p.(Pro3380=) NC_000007.14:152163436:T:C Identity +NM_001350234.2:c.1494C>T NP_001337163.1:p.Ser498= NC_000001.11:9720633:C:T p.(Ser498=) NC_000001.11:9720633:C:T p.(Ser498=) NC_000001.11:9720633:C:T Identity +NM_000337.6:c.240A>G NP_000328.2:p.Glu80= NC_000005.10:156508647:A:G p.(Glu80=) NC_000005.10:156508647:A:G p.(Glu80=) NC_000005.10:156508647:A:G Identity +NM_000379.4:c.1662C>T NP_000370.2:p.Pro554= NC_000002.12:31373896:G:A p.(Pro554=) NC_000002.12:31373896:G:A p.(Pro554=) NC_000002.12:31373896:G:A Identity +NM_002618.4:c.69A>C NP_002609.1:p.Gly23= NC_000002.12:61017827:A:C p.(Gly23=) NC_000002.12:61017827:A:C p.(Gly23=) NC_000002.12:61017827:A:C Identity +NM_004802.4:c.3627C>G NP_004793.2:p.Leu1209= NC_000002.12:26460090:G:C p.(Leu1209=) NC_000002.12:26460090:G:C p.(Leu1209=) NC_000002.12:26460090:G:C Identity +NM_000411.8:c.1932G>T NP_000402.3:p.Leu644= NC_000021.9:36756618:C:A p.(Leu644=) NC_000021.9:36756618:C:A p.(Leu644=) NC_000021.9:36756618:C:A Identity +NM_001306079.2:c.1281C>T NP_001293008.1:p.Asn427= NC_000002.12:27224770:C:T p.(Asn427=) NC_000002.12:27224770:C:T p.(Asn427=) NC_000002.12:27224770:C:T Identity +NM_006031.6:c.24G>A NP_006022.3:p.Arg8= NC_000021.9:46324251:G:A p.(Arg8=) NC_000021.9:46324251:G:A p.(Arg8=) NC_000021.9:46324251:G:A Identity +NM_000109.4:c.7089A>T NP_000100.3:p.Ala2363= NC_000023.11:31836804:T:A p.(Ala2363=) NC_000023.11:31836804:T:A p.(Ala2363=) NC_000023.11:31836804:T:A Identity +NM_000492.4:c.603G>A NP_000483.3:p.Val201= NC_000007.14:117535270:G:A p.(Val201=) NC_000007.14:117535270:G:A p.(Val201=) NC_000007.14:117535270:G:A Identity +NM_020312.4:c.729C>G NP_064708.1:p.Arg243= NC_000016.10:57459581:C:G p.(Arg243=) NC_000016.10:57459581:C:G p.(Arg243=) NC_000016.10:57459581:C:G Identity +NM_016239.4:c.27G>A NP_057323.3:p.Lys9= NC_000017.11:18118826:G:A p.(Lys9=) NC_000017.11:18118826:G:A p.(Lys9=) NC_000017.11:18118826:G:A Identity +NM_005450.6:c.246G>A NP_005441.1:p.Ser82= NC_000017.11:56594468:G:A p.(Ser82=) NC_000017.11:56594468:G:A p.(Ser82=) NC_000017.11:56594468:G:A Identity +NM_001316690.1:c.867C>A NP_001303619.1:p.Thr289= NC_000008.11:60742298:C:A p.(Thr289=) NC_000008.11:60742298:C:A p.(Thr289=) NC_000008.11:60742298:C:A Identity +NM_001289396.2:c.2286C>T NP_001276325.1:p.Leu762= NC_000009.12:2081932:C:T p.(Leu762=) NC_000009.12:2081932:C:T p.(Leu762=) NC_000009.12:2081932:C:T Identity +NM_001105206.3:c.717A>G NP_001098676.2:p.Ala239= NC_000006.12:112191636:T:C p.(Ala239=) NC_000006.12:112191636:T:C p.(Ala239=) NC_000006.12:112191636:T:C Identity +NM_000821.7:c.2166T>C NP_000812.2:p.Tyr722= NC_000002.12:85550044:A:G p.(Tyr722=) NC_000002.12:85550044:A:G p.(Tyr722=) NC_000002.12:85550044:A:G Identity +NM_000489.6:c.1719T>C NP_000480.3:p.Gly573= NC_000023.11:77683536:A:G p.(Gly573=) NC_000023.11:77683536:A:G p.(Gly573=) NC_000023.11:77683536:A:G Identity +NM_001079911.3:c.1431T>C NP_001073380.1:p.Val477= NC_000004.12:87663256:T:C p.(Val477=) NC_000004.12:87663256:T:C p.(Val477=) NC_000004.12:87663256:T:C Identity +NM_016239.4:c.5745C>T NP_057323.3:p.Gly1915= NC_000017.11:18142173:C:T p.(Gly1915=) NC_000017.11:18142173:C:T p.(Gly1915=) NC_000017.11:18142173:C:T Identity +NM_001277764.2:c.645C>T NP_001264693.1:p.His215= NC_000015.10:90230962:G:A p.(His215=) NC_000015.10:90230962:G:A p.(His215=) NC_000015.10:90230962:G:A Identity +NM_001042494.2:c.159T>C NP_001035959.1:p.Ala53= NC_000015.10:34261000:A:G p.(Ala53=) NC_000015.10:34261000:A:G p.(Ala53=) NC_000015.10:34261000:A:G Identity +NM_001206389.2:c.111G>A NP_001193318.1:p.Lys37= NC_000010.11:101771483:C:T p.(Lys37=) NC_000010.11:101771483:C:T p.(Lys37=) NC_000010.11:101771483:C:T Identity +NM_001018056.3:c.2394C>T NP_001018066.1:p.Asn798= NC_000009.12:2652840:C:T p.(Asn798=) NC_000009.12:2652840:C:T p.(Asn798=) NC_000009.12:2652840:C:T Identity +NM_001845.6:c.2538G>A NP_001836.3:p.Gly846= NC_000013.11:110178151:C:T p.(Gly846=) NC_000013.11:110178151:C:T p.(Gly846=) NC_000013.11:110178151:C:T Identity +NM_000506.5:c.135C>T NP_000497.1:p.Asn45= NC_000011.10:46719756:C:T p.(Asn45=) NC_000011.10:46719756:C:T p.(Asn45=) NC_000011.10:46719756:C:T Identity +NM_001100.4:c.102G>A NP_001091.1:p.Pro34= NC_000001.11:229433013:C:T p.(Pro34=) NC_000001.11:229433013:C:T p.(Pro34=) NC_000001.11:229433013:C:T Identity +NM_001029882.3:c.300G>A NP_001025053.1:p.Pro100= NC_000001.11:27551815:C:T p.(Pro100=) NC_000001.11:27551815:C:T p.(Pro100=) NC_000001.11:27551815:C:T Identity +NM_030943.4:c.46C>T NP_112205.2:p.Leu16= NC_000014.9:102923712:C:T p.(Leu16=) NC_000014.9:102923712:C:T p.(Leu16=) NC_000014.9:102923712:C:T Identity +NM_001127396.3:c.1587C>T NP_001120868.1:p.Pro529= NC_000019.10:7647410:C:T p.(Pro529=) NC_000019.10:7647410:C:T p.(Pro529=) NC_000019.10:7647410:C:T Identity +NM_003659.4:c.1821T>C NP_003650.1:p.Leu607= NC_000002.12:177523770:T:C p.(Leu607=) NC_000002.12:177523770:T:C p.(Leu607=) NC_000002.12:177523770:T:C Identity +NM_001362949.2:c.1126C>T NP_001349878.1:p.Leu376= NC_000022.11:33381923:G:A p.(Leu376=) NC_000022.11:33381923:G:A p.(Leu376=) NC_000022.11:33381923:G:A Identity +NM_000355.4:c.88C>T NP_000346.2:p.Leu30= NC_000022.11:30610893:C:T p.(Leu30=) NC_000022.11:30610893:C:T p.(Leu30=) NC_000022.11:30610893:C:T Identity +NM_001146702.2:c.3729G>A NP_001140174.1:p.Glu1243= NC_000023.11:53194246:C:T p.(Glu1243=) NC_000023.11:53194246:C:T p.(Glu1243=) NC_000023.11:53194246:C:T Identity +NM_000228.3:c.1842G>A NP_000219.2:p.Gly614= NC_000001.11:209625781:C:T p.(Gly614=) NC_000001.11:209625781:C:T p.(Gly614=) NC_000001.11:209625781:C:T Identity +NM_001005862.3:c.2901C>T NP_001005862.1:p.Ala967= NC_000017.11:39726834:C:T p.(Ala967=) NC_000017.11:39726834:C:T p.(Ala967=) NC_000017.11:39726834:C:T Identity +NM_000341.4:c.789T>C NP_000332.2:p.Ser263= NC_000002.12:44286054:T:C p.(Ser263=) NC_000002.12:44286054:T:C p.(Ser263=) NC_000002.12:44286054:T:C Identity +NM_015488.5:c.408C>T NP_056303.3:p.Ile136= NC_000002.12:218340083:C:T p.(Ile136=) NC_000002.12:218340083:C:T p.(Ile136=) NC_000002.12:218340083:C:T Identity +NM_001130455.2:c.1038G>A NP_001123927.1:p.Gly346= NC_000002.12:71520885:G:A p.(Gly346=) NC_000002.12:71520885:G:A p.(Gly346=) NC_000002.12:71520885:G:A Identity +NM_001163817.2:c.816G>T NP_001157289.1:p.Leu272= NC_000011.10:71438893:C:A p.(Leu272=) NC_000011.10:71438893:C:A p.(Leu272=) NC_000011.10:71438893:C:A Identity +NM_000425.5:c.210G>A NP_000416.1:p.Thr70= NC_000023.11:153872341:C:T p.(Thr70=) NC_000023.11:153872341:C:T p.(Thr70=) NC_000023.11:153872341:C:T Identity +NM_001007204.1:c.2241G>A NP_001007205.1:p.Glu747= NC_000001.11:156881491:G:A ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_020949.3:c.1575C>T NP_066000.2:p.Ser525= NC_000003.12:170480706:G:A p.(Ser525=) NC_000003.12:170480706:G:A p.(Ser525=) NC_000003.12:170480706:G:A Identity +NM_000057.4:c.1686T>C NP_000048.1:p.Asp562= NC_000015.10:90761058:T:C p.(Asp562=) NC_000015.10:90761058:T:C p.(Asp562=) NC_000015.10:90761058:T:C Identity +NM_001164507.2:c.9786C>T NP_001157979.2:p.Ala3262= NC_000002.12:151629583:G:A p.(Ala3262=) NC_000002.12:151629583:G:A p.(Ala3262=) NC_000002.12:151629583:G:A Identity +NM_000147.5:c.255G>A NP_000138.2:p.Gly85= NC_000001.11:23868031:C:T p.(Gly85=) NC_000001.11:23868031:C:T p.(Gly85=) NC_000001.11:23868031:C:T Identity +NM_001018056.3:c.1056G>A NP_001018066.1:p.Leu352= NC_000009.12:2643948:G:A p.(Leu352=) NC_000009.12:2643948:G:A p.(Leu352=) NC_000009.12:2643948:G:A Identity +NM_001033024.2:c.1041C>T NP_001028196.1:p.Pro347= NC_000022.11:32498238:C:T p.(Pro347=) NC_000022.11:32498238:C:T p.(Pro347=) NC_000022.11:32498238:C:T Identity +NM_001378418.1:c.5481C>T NP_001365347.1:p.Ser1827= NC_000022.11:42209824:G:A p.(Ser1827=) NC_000022.11:42209824:G:A p.(Ser1827=) NC_000022.11:42209824:G:A Identity +NM_000254.3:c.213T>C NP_000245.2:p.Ser71= NC_000001.11:236803605:T:C p.(Ser71=) NC_000001.11:236803605:T:C p.(Ser71=) NC_000001.11:236803605:T:C Identity +NM_000124.4:c.78T>C NP_000115.1:p.Asn26= NC_000010.11:49532886:A:G p.(Asn26=) NC_000010.11:49532886:A:G p.(Asn26=) NC_000010.11:49532886:A:G Identity +NM_001142929.2:c.882C>A NP_001136401.2:p.Gly294= NC_000010.11:49646628:C:A p.(Gly294=) NC_000010.11:49646628:C:A p.(Gly294=) NC_000010.11:49646628:C:A Identity +NM_001410858.1:c.3597C>T NP_001397787.1:p.Tyr1199= NC_000018.10:45915606:G:A p.(Tyr1199=) NC_000018.10:45915606:G:A p.(Tyr1199=) NC_000018.10:45915606:G:A Identity +NM_001127325.2:c.159G>A NP_001120797.1:p.Gln53= NC_000001.11:11680352:C:T p.(Gln53=) NC_000001.11:11680352:C:T p.(Gln53=) NC_000001.11:11680352:C:T Identity +NM_005708.5:c.1083T>C NP_005699.1:p.Asn361= NC_000013.11:94306053:T:C p.(Asn361=) NC_000013.11:94306053:T:C p.(Asn361=) NC_000013.11:94306053:T:C Identity +NM_000350.3:c.3165G>A NP_000341.2:p.Arg1055= NC_000001.11:94043360:C:T p.(Arg1055=) NC_000001.11:94043360:C:T p.(Arg1055=) NC_000001.11:94043360:C:T Identity +NM_001346813.1:c.657G>C NP_001333742.1:p.Gly219= NC_000006.12:156778585:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001105.5:c.756C>T NP_001096.1:p.Tyr252= NC_000002.12:157770401:G:A p.(Tyr252=) NC_000002.12:157770401:G:A p.(Tyr252=) NC_000002.12:157770401:G:A Identity +NM_001369906.1:c.309C>T NP_001356835.1:p.Thr103= NC_000022.11:23574982:G:A p.(Thr103=) NC_000022.11:23574982:G:A p.(Thr103=) NC_000022.11:23574982:G:A Identity +NM_025074.7:c.10216C>T NP_079350.5:p.Leu3406= NC_000004.12:78515839:C:T p.(Leu3406=) NC_000004.12:78515839:C:T p.(Leu3406=) NC_000004.12:78515839:C:T Identity +NM_001123226.2:c.813A>G NP_001116698.1:p.Thr271= NC_000006.12:73473641:A:G p.(Thr271=) NC_000006.12:73473641:A:G p.(Thr271=) NC_000006.12:73473641:A:G Identity +NM_001321851.1:c.3900C>G NP_001308780.1:p.Thr1300= NC_000014.9:92004072:G:C p.(Thr1300=) NC_000014.9:92004072:G:C p.(Thr1300=) NC_000014.9:92004072:G:C Identity +NM_000130.5:c.2838A>G NP_000121.2:p.Arg946= NC_000001.11:169542251:T:C p.(Arg946=) NC_000001.11:169542251:T:C p.(Arg946=) NC_000001.11:169542251:T:C Identity +NM_002187.3:c.510C>T NP_002178.2:p.Cys170= NC_000005.10:159320492:G:A p.(Cys170=) NC_000005.10:159320492:G:A p.(Cys170=) NC_000005.10:159320492:G:A Identity +NM_001185039.2:c.1173C>T NP_001171968.1:p.Leu391= NC_000017.11:75950784:G:A p.(Leu391=) NC_000017.11:75950784:G:A p.(Leu391=) NC_000017.11:75950784:G:A Identity +NM_207361.6:c.4044A>G NP_997244.4:p.Gly1348= NC_000013.11:38691387:A:G p.(Gly1348=) NC_000013.11:38691387:A:G p.(Gly1348=) NC_000013.11:38691387:A:G Identity +NM_000339.3:c.1767C>T NP_000330.3:p.Ala589= NC_000016.10:56884145:C:T p.(Ala589=) NC_000016.10:56884145:C:T p.(Ala589=) NC_000016.10:56884145:C:T Identity +NM_001305275.2:c.4734C>A NP_001292204.1:p.Pro1578= NC_000001.11:1049784:C:A p.(Pro1578=) NC_000001.11:1049784:C:A p.(Pro1578=) NC_000001.11:1049784:C:A Identity +NM_006231.4:c.5786_5791dup NP_006222.2:p.Ser1930_Ser1931insPheSer NC_000012.12:132635911:ATGAAA:ATGAAAATGAAA p.(Ser1930_Ser1931insPheSer) NC_000012.12:132635911:ATGAAA:ATGAAAATGAAA p.(Ser1930_Ser1931insPheSer) ERR:SPDI Identity +NM_001032409.3:c.234G>A NP_001027581.1:p.Leu78= NC_000012.12:112908588:G:A p.(Leu78=) NC_000012.12:112908588:G:A p.(Leu78=) NC_000012.12:112908588:G:A Identity +NM_001077269.1:c.66G>A NP_001070737.1:p.Lys22= NC_000002.12:174581424:C:T p.(Lys22=) NC_000002.12:174581424:C:T p.(Lys22=) NC_000002.12:174581424:C:T Identity +NM_001172574.2:c.27A>G NP_001166045.2:p.Val9= NC_000008.11:6409282:A:G p.(Val9=) NC_000008.11:6409282:A:G p.(Val9=) NC_000008.11:6409282:A:G Identity +NM_170606.3:c.11895C>T NP_733751.2:p.Gly3965= NC_000007.14:152155974:G:A p.(Gly3965=) NC_000007.14:152155974:G:A p.(Gly3965=) NC_000007.14:152155974:G:A Identity +NM_001364440.2:c.525G>A NP_001351369.1:p.Ser175= NC_000005.10:7878066:G:A p.(Ser175=) NC_000005.10:7878066:G:A p.(Ser175=) NC_000005.10:7878066:G:A Identity +NM_001277126.2:c.2001C>T NP_001264055.1:p.Gly667= NC_000019.10:53809657:G:A p.(Gly667=) NC_000019.10:53809657:G:A p.(Gly667=) NC_000019.10:53809657:G:A Identity +NM_001379352.1:c.87C>T NP_001366281.1:p.Leu29= NC_000001.11:146020144:G:A p.(Leu29=) NC_000001.11:146020144:G:A p.(Leu29=) NC_000001.11:146020144:G:A Identity +NM_001363813.1:c.1329G>A NP_001350742.1:p.Leu443= NC_000017.11:65537706:C:T p.(Leu443=) NC_000017.11:65537706:C:T p.(Leu443=) NC_000017.11:65537706:C:T Identity +NM_001256182.2:c.6198C>T NP_001243111.1:p.Phe2066= NC_000016.10:89280343:G:A p.(Phe2066=) NC_000016.10:89280343:G:A p.(Phe2066=) NC_000016.10:89280343:G:A Identity +NM_001330504.2:c.597C>T NP_001317433.1:p.His199= NC_000016.10:5079775:C:T p.(His199=) NC_000016.10:5079775:C:T p.(His199=) NC_000016.10:5079775:C:T Identity +NM_015180.6:c.9870A>G NP_055995.4:p.Glu3290= NC_000014.9:64056068:A:G p.(Glu3290=) NC_000014.9:64056068:A:G p.(Glu3290=) NC_000014.9:64056068:A:G Identity +NM_001317012.2:c.810C>G NP_001303941.1:p.Gly270= NC_000020.11:23365192:C:G p.(Gly270=) NC_000020.11:23365192:C:G p.(Gly270=) NC_000020.11:23365192:C:G Identity +NM_000198.4:c.822G>A NP_000189.1:p.Glu274= NC_000001.11:119422322:G:A p.(Glu274=) NC_000001.11:119422322:G:A p.(Glu274=) NC_000001.11:119422322:G:A Identity +NM_001065.4:c.927T>G NP_001056.1:p.Ala309= NC_000012.12:6329907:A:C p.(Ala309=) NC_000012.12:6329907:A:C p.(Ala309=) NC_000012.12:6329907:A:C Identity +NM_001098209.2:c.1065G>A NP_001091679.1:p.Pro355= NC_000003.12:41227335:G:A p.(Pro355=) NC_000003.12:41227335:G:A p.(Pro355=) NC_000003.12:41227335:G:A Identity +NM_000078.3:c.315C>T NP_000069.2:p.Asn105= NC_000016.10:56969466:C:T p.(Asn105=) NC_000016.10:56969466:C:T p.(Asn105=) NC_000016.10:56969466:C:T Identity +NM_001410705.1:c.306G>A NP_001397634.1:p.Glu102= NC_000023.11:153964613:C:T p.(Glu102=) NC_000023.11:153964613:C:T p.(Glu102=) NC_000023.11:153964613:C:T Identity +NM_000320.3:c.117C>T NP_000311.2:p.Ser39= NC_000004.12:17509351:G:A p.(Ser39=) NC_000004.12:17509351:G:A p.(Ser39=) NC_000004.12:17509351:G:A Identity +NM_014141.6:c.1875G>C NP_054860.1:p.Leu625= NC_000007.14:147562234:G:C p.(Leu625=) NC_000007.14:147562234:G:C p.(Leu625=) NC_000007.14:147562234:G:C Identity +NM_001146289.2:c.1260G>A NP_001139761.1:p.Glu420= NC_000001.11:42754953:C:T p.(Glu420=) NC_000001.11:42754953:C:T p.(Glu420=) NC_000001.11:42754953:C:T Identity +NM_017617.5:c.6495C>T NP_060087.3:p.Gly2165= NC_000009.12:136497243:G:A p.(Gly2165=) NC_000009.12:136497243:G:A p.(Gly2165=) NC_000009.12:136497243:G:A Identity +NM_000101.4:c.558C>T NP_000092.2:p.Asn186= NC_000016.10:88643382:G:A p.(Asn186=) NC_000016.10:88643382:G:A p.(Asn186=) NC_000016.10:88643382:G:A Identity +NM_000130.5:c.705T>C NP_000121.2:p.Asn235= NC_000001.11:169559177:A:G p.(Asn235=) NC_000001.11:169559177:A:G p.(Asn235=) NC_000001.11:169559177:A:G Identity +NM_005560.6:c.7431G>A NP_005551.3:p.Pro2477= NC_000020.11:62317424:C:T p.(Pro2477=) NC_000020.11:62317424:C:T p.(Pro2477=) NC_000020.11:62317424:C:T Identity +NM_001844.5:c.3903C>T NP_001835.3:p.Asp1301= NC_000012.12:47974845:G:A p.(Asp1301=) NC_000012.12:47974845:G:A p.(Asp1301=) NC_000012.12:47974845:G:A Identity +NM_001143990.2:c.561T>C NP_001137462.1:p.Asn187= NC_000017.11:7689619:T:C p.(Asn187=) NC_000017.11:7689619:T:C p.(Asn187=) NC_000017.11:7689619:T:C Identity +NM_001243564.2:c.171G>A NP_001230493.1:p.Lys57= NC_000001.11:26438274:G:A p.(Lys57=) NC_000001.11:26438274:G:A p.(Lys57=) NC_000001.11:26438274:G:A Identity +NM_001400328.1:c.511T>C NP_001387257.1:p.Leu171= NC_000003.12:128060537:T:C p.(Leu171=) NC_000003.12:128060537:T:C p.(Leu171=) NC_000003.12:128060537:T:C Identity +NM_001374385.1:c.2961C>G NP_001361314.1:p.Leu987= NC_000018.10:57654045:G:C p.(Leu987=) NC_000018.10:57654045:G:C p.(Leu987=) NC_000018.10:57654045:G:C Identity +NM_001324112.2:c.1197C>A NP_001311041.1:p.Val399= NC_000008.11:64604717:G:T p.(Val399=) NC_000008.11:64604717:G:T p.(Val399=) NC_000008.11:64604717:G:T Identity +NM_006088.6:c.591C>T NP_006079.1:p.Asp197= NC_000009.12:137242808:C:T p.(Asp197=) NC_000009.12:137242808:C:T p.(Asp197=) NC_000009.12:137242808:C:T Identity +NM_001130455.2:c.3345G>T NP_001123927.1:p.Gly1115= NC_000002.12:71574364:G:T p.(Gly1115=) NC_000002.12:71574364:G:T p.(Gly1115=) NC_000002.12:71574364:G:T Identity +NM_002838.5:c.2625C>A NP_002829.3:p.Ala875= NC_000001.11:198742294:C:A p.(Ala875=) NC_000001.11:198742294:C:A p.(Ala875=) NC_000001.11:198742294:C:A Identity +NM_000137.4:c.525G>A NP_000128.1:p.Arg175= NC_000015.10:80168120:G:A p.(Arg175=) NC_000015.10:80168120:G:A p.(Arg175=) NC_000015.10:80168120:G:A Identity +NM_001195573.1:c.1545G>T NP_001182502.1:p.Leu515= NC_000014.9:95116659:C:A p.(Leu515=) NC_000014.9:95116659:C:A p.(Leu515=) NC_000014.9:95116659:C:A Identity +NM_000557.5:c.687G>A NP_000548.2:p.Leu229= NC_000020.11:35434727:C:T p.(Leu229=) NC_000020.11:35434727:C:T p.(Leu229=) NC_000020.11:35434727:C:T Identity +NM_000047.3:c.1269C>T NP_000038.2:p.Gly423= NC_000023.11:2938114:G:A p.(Gly423=) NC_000023.11:2938114:G:A p.(Gly423=) NC_000023.11:2938114:G:A Identity +NM_207361.6:c.9240G>A NP_997244.4:p.Leu3080= NC_000013.11:38880516:G:A p.(Leu3080=) NC_000013.11:38880516:G:A p.(Leu3080=) NC_000013.11:38880516:G:A Identity +NM_001261406.2:c.1713G>A NP_001248335.1:p.Ala571= NC_000009.12:13193256:C:T p.(Ala571=) NC_000009.12:13193256:C:T p.(Ala571=) NC_000009.12:13193256:C:T Identity +NM_001411087.1:c.1071G>A NP_001398016.1:p.Val357= NC_000019.10:45032621:G:A p.(Val357=) NC_000019.10:45032621:G:A p.(Val357=) NC_000019.10:45032621:G:A Identity +NM_001291593.2:c.2625C>T NP_001278522.1:p.Thr875= NC_000001.11:5863381:G:A p.(Thr875=) NC_000001.11:5863381:G:A p.(Thr875=) NC_000001.11:5863381:G:A Identity +NM_001199917.2:c.609T>C NP_001186846.1:p.Tyr203= NC_000006.12:83182910:A:G p.(Tyr203=) NC_000006.12:83182910:A:G p.(Tyr203=) NC_000006.12:83182910:A:G Identity +NM_001145715.3:c.279A>G NP_001139187.1:p.Thr93= NC_000007.14:99196088:T:C p.(Thr93=) NC_000007.14:99196088:T:C p.(Thr93=) NC_000007.14:99196088:T:C Identity +NM_001242795.2:c.345A>G NP_001229724.1:p.Ala115= NC_000016.10:56823765:A:G p.(Ala115=) NC_000016.10:56823765:A:G p.(Ala115=) NC_000016.10:56823765:A:G Identity +NM_001260474.2:c.352T>C NP_001247403.1:p.Leu118= NC_000021.9:42863540:A:G p.(Leu118=) NC_000021.9:42863540:A:G p.(Leu118=) NC_000021.9:42863540:A:G Identity +NM_001320974.2:c.87A>G NP_001307903.1:p.Ala29= NC_000010.11:99731962:T:C p.(Ala29=) NC_000010.11:99731962:T:C p.(Ala29=) NC_000010.11:99731962:T:C Identity +NM_001300810.1:c.858C>T NP_001287739.1:p.Cys286= NC_000012.12:52360882:G:A p.(Cys286=) NC_000012.12:52360882:G:A p.(Cys286=) NC_000012.12:52360882:G:A Identity +NM_000095.3:c.948C>T NP_000086.2:p.Ala316= NC_000019.10:18788238:G:A p.(Ala316=) NC_000019.10:18788238:G:A p.(Ala316=) NC_000019.10:18788238:G:A Identity +NM_001291411.2:c.708A>G NP_001278340.2:p.Pro236= NC_000021.9:33549938:A:G p.(Pro236=) NC_000021.9:33549938:A:G p.(Pro236=) NC_000021.9:33549938:A:G Identity +NM_001197104.2:c.8460C>T NP_001184033.1:p.Asp2820= NC_000011.10:118504351:C:T p.(Asp2820=) NC_000011.10:118504351:C:T p.(Asp2820=) NC_000011.10:118504351:C:T Identity +NM_001164507.2:c.13572G>A NP_001157979.2:p.Val4524= NC_000002.12:151600657:C:T p.(Val4524=) NC_000002.12:151600657:C:T p.(Val4524=) NC_000002.12:151600657:C:T Identity +NM_001301237.2:c.552G>A NP_001288166.1:p.Ala184= NC_000001.11:41001042:G:A p.(Ala184=) NC_000001.11:41001042:G:A p.(Ala184=) NC_000001.11:41001042:G:A Identity +NM_001244580.2:c.3627G>A NP_001231509.1:p.Thr1209= NC_000007.14:98931439:G:A p.(Thr1209=) NC_000007.14:98931439:G:A p.(Thr1209=) NC_000007.14:98931439:G:A Identity +NM_000245.4:c.3150T>C NP_000236.2:p.Thr1050= NC_000007.14:116775001:T:C p.(Thr1050=) NC_000007.14:116775001:T:C p.(Thr1050=) NC_000007.14:116775001:T:C Identity +NM_001114331.3:c.681C>T NP_001107803.1:p.Ile227= NC_000016.10:1457322:G:A p.(Ile227=) NC_000016.10:1457322:G:A p.(Ile227=) NC_000016.10:1457322:G:A Identity +NM_000392.5:c.1659T>C NP_000383.2:p.Thr553= NC_000010.11:99807511:T:C p.(Thr553=) NC_000010.11:99807511:T:C p.(Thr553=) NC_000010.11:99807511:T:C Identity +NM_018685.5:c.1605A>G NP_061155.2:p.Thr535= NC_000007.14:36417161:A:G p.(Thr535=) NC_000007.14:36417161:A:G p.(Thr535=) NC_000007.14:36417161:A:G Identity +NM_001258392.3:c.378C>T NP_001245321.1:p.Cys126= NC_000011.10:72434096:G:A p.(Cys126=) NC_000011.10:72434096:G:A p.(Cys126=) NC_000011.10:72434096:G:A Identity +NM_001320923.2:c.312G>C NP_001307852.1:p.Arg104= NC_000001.11:64879041:C:G p.(Arg104=) NC_000001.11:64879041:C:G p.(Arg104=) NC_000001.11:64879041:C:G Identity +NM_003824.4:c.123C>T NP_003815.1:p.Ser41= NC_000011.10:70203581:C:T p.(Ser41=) NC_000011.10:70203581:C:T p.(Ser41=) NC_000011.10:70203581:C:T Identity +NM_001315529.2:c.3258G>T NP_001302458.1:p.Pro1086= NC_000021.9:46389202:G:T p.(Pro1086=) NC_000021.9:46389202:G:T p.(Pro1086=) NC_000021.9:46389202:G:T Identity +NM_001128431.4:c.1134C>T NP_001121903.1:p.Phe378= NC_000008.11:22416266:C:T p.(Phe378=) NC_000008.11:22416266:C:T p.(Phe378=) NC_000008.11:22416266:C:T Identity +NM_001098268.2:c.936C>T NP_001091738.1:p.Thr312= NC_000013.11:108210332:G:A p.(Thr312=) NC_000013.11:108210332:G:A p.(Thr312=) NC_000013.11:108210332:G:A Identity +NM_000540.3:c.5505G>A NP_000531.2:p.Glu1835= NC_000019.10:38486159:G:A p.(Glu1835=) NC_000019.10:38486159:G:A p.(Glu1835=) NC_000019.10:38486159:G:A Identity +NM_001386421.1:c.990G>A NP_001373350.1:p.Glu330= NC_000003.12:45968343:C:T p.(Glu330=) NC_000003.12:45968343:C:T p.(Glu330=) NC_000003.12:45968343:C:T Identity +NM_001272073.2:c.996T>C NP_001259002.1:p.Tyr332= NC_000003.12:49100405:A:G p.(Tyr332=) NC_000003.12:49100405:A:G p.(Tyr332=) NC_000003.12:49100405:A:G Identity +NM_001710.6:c.2100C>A NP_001701.2:p.Gly700= NC_000006.12:31951564:C:A p.(Gly700=) NC_000006.12:31951564:C:A p.(Gly700=) NC_000006.12:31951564:C:A Identity +NM_001363656.2:c.321C>T NP_001350585.1:p.Ala107= NC_000019.10:52215828:C:T p.(Ala107=) NC_000019.10:52215828:C:T p.(Ala107=) NC_000019.10:52215828:C:T Identity +NM_001367830.1:c.4347G>A NP_001354759.1:p.Gly1449= NC_000019.10:11214370:C:T p.(Gly1449=) NC_000019.10:11214370:C:T p.(Gly1449=) NC_000019.10:11214370:C:T Identity +NM_001393363.1:c.444C>T NP_001380292.1:p.Tyr148= NC_000003.12:33114520:C:T p.(Tyr148=) NC_000003.12:33114520:C:T p.(Tyr148=) NC_000003.12:33114520:C:T Identity +NM_000522.5:c.363C>T NP_000513.2:p.Ala121= NC_000007.14:27199714:G:A p.(Ala121=) NC_000007.14:27199714:G:A p.(Ala121=) NC_000007.14:27199714:G:A Identity +NM_004646.4:c.1890C>G NP_004637.1:p.Leu630= NC_000019.10:35845407:G:C p.(Leu630=) NC_000019.10:35845407:G:C p.(Leu630=) NC_000019.10:35845407:G:C Identity +NM_003091.4:c.123C>T NP_003082.1:p.Ile41= NC_000020.11:2467638:G:A p.(Ile41=) NC_000020.11:2467638:G:A p.(Ile41=) NC_000020.11:2467638:G:A Identity +NM_001013838.3:c.2511G>A NP_001013860.1:p.Glu837= NC_000016.10:67651767:G:A p.(Glu837=) NC_000016.10:67651767:G:A p.(Glu837=) NC_000016.10:67651767:G:A Identity +NM_014141.6:c.2430G>T NP_054860.1:p.Leu810= NC_000007.14:148118163:G:T p.(Leu810=) NC_000007.14:148118163:G:T p.(Leu810=) NC_000007.14:148118163:G:T Identity +NM_001363711.2:c.981A>G NP_001350640.1:p.Glu327= NC_000015.10:45110486:T:C p.(Glu327=) NC_000015.10:45110486:T:C p.(Glu327=) NC_000015.10:45110486:T:C Identity +NM_001290185.2:c.1446C>T NP_001277114.1:p.Val482= NC_000011.10:119077550:C:T p.(Val482=) NC_000011.10:119077550:C:T p.(Val482=) NC_000011.10:119077550:C:T Identity +NM_007214.5:c.2013T>C NP_009145.1:p.Cys671= NC_000006.12:107876584:A:G p.(Cys671=) NC_000006.12:107876584:A:G p.(Cys671=) NC_000006.12:107876584:A:G Identity +NM_000081.4:c.2307G>A NP_000072.2:p.Leu769= NC_000001.11:235808510:C:T p.(Leu769=) NC_000001.11:235808510:C:T p.(Leu769=) NC_000001.11:235808510:C:T Identity +NM_001278055.2:c.13281T>C NP_001264984.1:p.Phe4427= NC_000013.11:23330153:A:G p.(Phe4427=) NC_000013.11:23330153:A:G p.(Phe4427=) NC_000013.11:23330153:A:G Identity +NM_001362949.2:c.642A>G NP_001349878.1:p.Lys214= NC_000022.11:33564992:T:C p.(Lys214=) NC_000022.11:33564992:T:C p.(Lys214=) NC_000022.11:33564992:T:C Identity +NM_015909.4:c.1302A>G NP_056993.2:p.Gln434= NC_000002.12:15475725:T:C p.(Gln434=) NC_000002.12:15475725:T:C p.(Gln434=) NC_000002.12:15475725:T:C Identity +NM_002256.4:c.132G>A NP_002247.3:p.Leu44= NC_000001.11:204190768:C:T p.(Leu44=) NC_000001.11:204190768:C:T p.(Leu44=) NC_000001.11:204190768:C:T Identity +NM_006158.5:c.636C>T NP_006149.2:p.Arg212= NC_000008.11:24955879:G:A p.(Arg212=) NC_000008.11:24955879:G:A p.(Arg212=) NC_000008.11:24955879:G:A Identity +NM_000540.3:c.13356C>T NP_000531.2:p.Gly4452= NC_000019.10:38565689:C:T p.(Gly4452=) NC_000019.10:38565689:C:T p.(Gly4452=) NC_000019.10:38565689:C:T Identity +NM_001282587.2:c.2358G>A NP_001269516.1:p.Pro786= NC_000001.11:9264817:G:A p.(Pro786=) NC_000001.11:9264817:G:A p.(Pro786=) NC_000001.11:9264817:G:A Identity +NM_001099679.2:c.1491A>G NP_001093149.1:p.Thr497= NC_000009.12:116699232:A:G p.(Thr497=) NC_000009.12:116699232:A:G p.(Thr497=) NC_000009.12:116699232:A:G Identity +NM_006767.4:c.1002G>T NP_006758.2:p.Gly334= NC_000022.11:20992221:G:T p.(Gly334=) NC_000022.11:20992221:G:T p.(Gly334=) NC_000022.11:20992221:G:T Identity +NM_138694.4:c.4104A>C NP_619639.3:p.Val1368= NC_000006.12:52025705:T:G p.(Val1368=) NC_000006.12:52025705:T:G p.(Val1368=) NC_000006.12:52025705:T:G Identity +NM_001142864.4:c.600G>A NP_001136336.2:p.Gly200= NC_000016.10:88738601:C:T p.(Gly200=) NC_000016.10:88738601:C:T p.(Gly200=) NC_000016.10:88738601:C:T Identity +NM_015141.4:c.675C>G NP_055956.1:p.Thr225= NC_000003.12:32158931:C:G p.(Thr225=) NC_000003.12:32158931:C:G p.(Thr225=) NC_000003.12:32158931:C:G Identity +NM_001371986.1:c.4251A>C NP_001358915.1:p.Ser1417= NC_000002.12:209888234:A:C p.(Ser1417=) NC_000002.12:209888234:A:C p.(Ser1417=) NC_000002.12:209888234:A:C Identity +NM_052876.4:c.492G>A NP_443108.1:p.Ser164= NC_000019.10:13135698:G:A p.(Ser164=) NC_000019.10:13135698:G:A p.(Ser164=) NC_000019.10:13135698:G:A Identity +NM_001291412.3:c.609C>T NP_001278341.1:p.Phe203= NC_000021.9:33559642:C:T p.(Phe203=) NC_000021.9:33559642:C:T p.(Phe203=) NC_000021.9:33559642:C:T Identity +NM_001277764.2:c.501C>T NP_001264693.1:p.Asp167= NC_000015.10:90231178:G:A p.(Asp167=) NC_000015.10:90231178:G:A p.(Asp167=) NC_000015.10:90231178:G:A Identity +NM_024652.6:c.5334G>A NP_078928.3:p.Gly1778= NC_000015.10:101065770:G:A p.(Gly1778=) NC_000015.10:101065770:G:A p.(Gly1778=) NC_000015.10:101065770:G:A Identity +NM_001089.3:c.717G>A NP_001080.2:p.Thr239= NC_000016.10:2319736:C:T p.(Thr239=) NC_000016.10:2319736:C:T p.(Thr239=) NC_000016.10:2319736:C:T Identity +NM_000227.6:c.2481G>T NP_000218.3:p.Val827= NC_000018.10:23912859:G:T p.(Val827=) NC_000018.10:23912859:G:T p.(Val827=) NC_000018.10:23912859:G:T Identity +NM_001291411.2:c.4086T>C NP_001278340.2:p.Ser1362= NC_000021.9:33553316:T:C p.(Ser1362=) NC_000021.9:33553316:T:C p.(Ser1362=) NC_000021.9:33553316:T:C Identity +NM_001316350.2:c.690T>G NP_001303279.1:p.Thr230= NC_000001.11:231266113:T:G p.(Thr230=) NC_000001.11:231266113:T:G p.(Thr230=) NC_000001.11:231266113:T:G Identity +NM_001410830.1:c.25C>T NP_001397759.1:p.Leu9= NC_000020.11:25407844:C:T p.(Leu9=) NC_000020.11:25407844:C:T p.(Leu9=) NC_000020.11:25407844:C:T Identity +NM_000443.4:c.2136C>T NP_000434.1:p.Val712= NC_000007.14:87423980:G:A p.(Val712=) NC_000007.14:87423980:G:A p.(Val712=) NC_000007.14:87423980:G:A Identity +NM_001271999.2:c.3960T>C NP_001258928.1:p.Phe1320= NC_000001.11:62513874:A:G p.(Phe1320=) NC_000001.11:62513874:A:G p.(Phe1320=) NC_000001.11:62513874:A:G Identity +NM_001306079.2:c.1959T>C NP_001293008.1:p.Pro653= NC_000002.12:27226640:T:C p.(Pro653=) NC_000002.12:27226640:T:C p.(Pro653=) NC_000002.12:27226640:T:C Identity +NM_001127487.2:c.4425G>T NP_001120959.1:p.Ala1475= NC_000007.14:128847832:G:T p.(Ala1475=) NC_000007.14:128847832:G:T p.(Ala1475=) NC_000007.14:128847832:G:T Identity +NM_001270974.2:c.15037_15048delinsGATGATATA NP_001257903.1:p.Tyr5013_Pro5016delinsAspAspIle NC_000016.10:70807897:GGGGATGATATA:TATATCATC p.(Tyr5013_Pro5016delinsAspAspIle) NC_000016.10:70807897:GGGGATGATATA:TATATCATC p.(Tyr5013_Pro5016delinsAspAspIle) NC_000016.10:70807897:GGGGATGATATA:TATATCATC Identity +NM_001242385.2:c.1635T>C NP_001229314.1:p.Phe545= NC_000006.12:10764568:A:G p.(Phe545=) NC_000006.12:10764568:A:G p.(Phe545=) NC_000006.12:10764568:A:G Identity +NM_001142801.2:c.1849del NP_001136273.1:p.Ile616_Val617insTer NC_000006.12:65332334:C: p.(Val617Ter) NC_000006.12:65332334:C: p.(Val617Ter) NC_000006.12:65332334:C: Analogous +NM_203288.2:c.258T>C NP_976033.1:p.His86= NC_000007.14:33099361:A:G p.(His86=) NC_000007.14:33099361:A:G p.(His86=) NC_000007.14:33099361:A:G Identity +NM_178857.6:c.1074T>A NP_849188.4:p.Val358= NC_000008.11:10613023:A:T p.(Val358=) NC_000008.11:10613023:A:T p.(Val358=) NC_000008.11:10613023:A:T Identity +NM_001029883.3:c.3807C>T NP_001025054.1:p.Thr1269= NC_000002.12:29064928:G:A p.(Thr1269=) NC_000002.12:29064928:G:A p.(Thr1269=) NC_000002.12:29064928:G:A Identity +NM_178857.6:c.2481A>G NP_849188.4:p.Ser827= NC_000008.11:10611616:T:C p.(Ser827=) NC_000008.11:10611616:T:C p.(Ser827=) NC_000008.11:10611616:T:C Identity +NM_001363260.1:c.375G>A NP_001350189.1:p.Arg125= NC_000008.11:95247769:C:T p.(Arg125=) NC_000008.11:95247769:C:T p.(Arg125=) NC_000008.11:95247769:C:T Identity +NM_002900.3:c.1245G>A NP_002891.1:p.Leu415= NC_000010.11:47349728:G:A p.(Leu415=) NC_000010.11:47349728:G:A p.(Leu415=) NC_000010.11:47349728:G:A Identity +NM_014714.4:c.3135G>A NP_055529.2:p.Leu1045= NC_000016.10:1524557:C:T p.(Leu1045=) NC_000016.10:1524557:C:T p.(Leu1045=) NC_000016.10:1524557:C:T Identity +NM_001163022.3:c.1017A>G NP_001156494.1:p.Glu339= NC_000020.11:21163132:A:G p.(Glu339=) NC_000020.11:21163132:A:G p.(Glu339=) NC_000020.11:21163132:A:G Identity +NM_012469.4:c.132G>A NP_036601.2:p.Val44= NC_000020.11:63983106:G:A p.(Val44=) NC_000020.11:63983106:G:A p.(Val44=) NC_000020.11:63983106:G:A Identity +NM_001330209.2:c.960C>T NP_001317138.1:p.Asp320= NC_000023.11:13753391:C:T p.(Asp320=) NC_000023.11:13753391:C:T p.(Asp320=) NC_000023.11:13753391:C:T Identity +NM_001034853.2:c.2442A>G NP_001030025.1:p.Val814= NC_000023.11:38286556:T:C p.(Val814=) NC_000023.11:38286556:T:C p.(Val814=) NC_000023.11:38286556:T:C Identity +NM_000328.3:c.1721_1722insAT NP_000319.1:p.Thr574_Thr575insTer NC_000023.11:38287892::AT p.(Thr575Ter) NC_000023.11:38287891:C:AT p.(Thr575Ter) NC_000023.11:38287892:CG:AT Analogous +NM_000328.3:c.1594C>T NP_000319.1:p.Leu532= NC_000023.11:38288019:G:A p.(Leu532=) NC_000023.11:38288019:G:A p.(Leu532=) NC_000023.11:38288019:G:A Identity +NM_032242.4:c.4527C>T NP_115618.3:p.Asn1509= NC_000003.12:127028197:C:T p.(Asn1509=) NC_000003.12:127028197:C:T p.(Asn1509=) NC_000003.12:127028197:C:T Identity +NM_001079846.1:c.7050A>G NP_001073315.1:p.Ala2350= NC_000016.10:3727882:T:C p.(Ala2350=) NC_000016.10:3727882:T:C p.(Ala2350=) NC_000016.10:3727882:T:C Identity +NM_001393897.1:c.3297C>T NP_001380826.1:p.Pro1099= NC_000007.14:132181575:G:A p.(Pro1099=) NC_000007.14:132181575:G:A p.(Pro1099=) NC_000007.14:132181575:G:A Identity +NM_001289125.3:c.960T>C NP_001276054.1:p.Asp320= NC_000021.9:33262911:T:C p.(Asp320=) NC_000021.9:33262911:T:C p.(Asp320=) NC_000021.9:33262911:T:C Identity +NM_001079872.2:c.411G>A NP_001073341.1:p.Gln137= NC_000023.11:120560227:C:T p.(Gln137=) NC_000023.11:120560227:C:T p.(Gln137=) NC_000023.11:120560227:C:T Identity +NM_014747.3:c.351C>T NP_055562.2:p.Ser117= NC_000001.11:40635923:G:A p.(Ser117=) NC_000001.11:40635923:G:A p.(Ser117=) NC_000001.11:40635923:G:A Identity +NM_001079846.1:c.2334A>G NP_001073315.1:p.Gln778= NC_000016.10:3773765:T:C p.(Gln778=) NC_000016.10:3773765:T:C p.(Gln778=) NC_000016.10:3773765:T:C Identity +NM_001384125.1:c.12514C>T NP_001371054.1:p.Leu4172= NC_000004.12:122339305:C:T p.(Leu4172=) NC_000004.12:122339305:C:T p.(Leu4172=) NC_000004.12:122339305:C:T Identity +NM_012471.3:c.1641C>T NP_036603.1:p.Ile547= NC_000023.11:111847172:G:A p.(Ile547=) NC_000023.11:111847172:G:A p.(Ile547=) NC_000023.11:111847172:G:A Identity +NM_001079846.1:c.766C>T NP_001073315.1:p.Leu256= NC_000016.10:3850328:G:A p.(Leu256=) NC_000016.10:3850328:G:A p.(Leu256=) NC_000016.10:3850328:G:A Identity +NM_001326606.2:c.465G>A NP_001313535.1:p.Thr155= NC_000007.14:6023312:G:A p.(Thr155=) NC_000007.14:6023312:G:A p.(Thr155=) NC_000007.14:6023312:G:A Identity +NM_017934.7:c.3210C>T NP_060404.4:p.Asp1070= NC_000006.12:78966051:G:A p.(Asp1070=) NC_000006.12:78966051:G:A p.(Asp1070=) NC_000006.12:78966051:G:A Identity +NM_001127496.3:c.492G>A NP_001120968.1:p.Lys164= NC_000005.10:142314616:C:T p.(Lys164=) NC_000005.10:142314616:C:T p.(Lys164=) NC_000005.10:142314616:C:T Identity +NM_000458.4:c.906C>T NP_000449.1:p.Asn302= NC_000017.11:37731733:G:A p.(Asn302=) NC_000017.11:37731733:G:A p.(Asn302=) NC_000017.11:37731733:G:A Identity +NM_001365684.2:c.1497A>C NP_001352613.2:p.Ile499= NC_000005.10:177210768:A:C p.(Ile499=) NC_000005.10:177210768:A:C p.(Ile499=) NC_000005.10:177210768:A:C Identity +NM_005555.4:c.201C>T NP_005546.2:p.Ser67= NC_000012.12:52451877:G:A p.(Ser67=) NC_000012.12:52451877:G:A p.(Ser67=) NC_000012.12:52451877:G:A Identity +NM_001060.6:c.504G>C NP_001051.1:p.Leu168= NC_000019.10:3600130:C:G p.(Leu168=) NC_000019.10:3600130:C:G p.(Leu168=) NC_000019.10:3600130:C:G Identity +NM_001193341.2:c.829C>T NP_001180270.1:p.Leu277= NC_000006.12:43670894:C:T p.(Leu277=) NC_000006.12:43670894:C:T p.(Leu277=) NC_000006.12:43670894:C:T Identity +NM_001362950.1:c.2904A>G NP_001349879.1:p.Val968= NC_000002.12:24729517:A:G p.(Val968=) NC_000002.12:24729517:A:G p.(Val968=) NC_000002.12:24729517:A:G Identity +NM_173689.7:c.3642G>C NP_775960.4:p.Leu1214= NC_000009.12:123376845:G:C p.(Leu1214=) NC_000009.12:123376845:G:C p.(Leu1214=) NC_000009.12:123376845:G:C Identity +NM_001321196.2:c.129C>T NP_001308125.1:p.Cys43= NC_000019.10:58511826:G:A p.(Cys43=) NC_000019.10:58511826:G:A p.(Cys43=) NC_000019.10:58511826:G:A Identity +NM_013324.7:c.189G>A NP_037456.5:p.Val63= NC_000003.12:50608475:C:T p.(Val63=) NC_000003.12:50608475:C:T p.(Val63=) NC_000003.12:50608475:C:T Identity +NM_001304569.2:c.90C>T NP_001291498.1:p.Leu30= NC_000010.11:100746256:C:T p.(Leu30=) NC_000010.11:100746256:C:T p.(Leu30=) NC_000010.11:100746256:C:T Identity +NM_001042544.1:c.1716C>T NP_001036009.1:p.Cys572= NC_000019.10:40609617:C:T p.(Cys572=) NC_000019.10:40609617:C:T p.(Cys572=) NC_000019.10:40609617:C:T Identity +NM_001320613.2:c.237G>C NP_001307542.1:p.Leu79= NC_000002.12:24918750:C:G p.(Leu79=) NC_000002.12:24918750:C:G p.(Leu79=) NC_000002.12:24918750:C:G Identity +NM_014845.6:c.1833A>G NP_055660.1:p.Pro611= NC_000006.12:109777003:A:G p.(Pro611=) NC_000006.12:109777003:A:G p.(Pro611=) NC_000006.12:109777003:A:G Identity +NM_001301065.2:c.675C>T NP_001287994.1:p.Asp225= NC_000011.10:118661248:G:A p.(Asp225=) NC_000011.10:118661248:G:A p.(Asp225=) NC_000011.10:118661248:G:A Identity +NM_001278682.2:c.474A>G NP_001265611.1:p.Pro158= NC_000018.10:3457585:A:G p.(Pro158=) NC_000018.10:3457585:A:G p.(Pro158=) NC_000018.10:3457585:A:G Identity +NM_001309193.2:c.1749C>T NP_001296122.1:p.His583= NC_000001.11:22896461:C:T p.(His583=) NC_000001.11:22896461:C:T p.(His583=) NC_000001.11:22896461:C:T Identity +NM_000170.3:c.1035T>A NP_000161.2:p.Pro345= NC_000009.12:6604610:A:T p.(Pro345=) NC_000009.12:6604610:A:T p.(Pro345=) NC_000009.12:6604610:A:T Identity +NM_001143810.2:c.108C>T NP_001137282.1:p.Gly36= NC_000011.10:27674176:G:A p.(Gly36=) NC_000011.10:27674176:G:A p.(Gly36=) NC_000011.10:27674176:G:A Identity +NM_000185.4:c.465C>T NP_000176.2:p.Pro155= NC_000022.11:20779776:C:T p.(Pro155=) NC_000022.11:20779776:C:T p.(Pro155=) NC_000022.11:20779776:C:T Identity +NM_012463.4:c.1764C>T NP_036595.2:p.Ile588= NC_000012.12:123748613:C:T p.(Ile588=) NC_000012.12:123748613:C:T p.(Ile588=) NC_000012.12:123748613:C:T Identity +NM_000081.4:c.2319G>A NP_000072.2:p.Val773= NC_000001.11:235808498:C:T p.(Val773=) NC_000001.11:235808498:C:T p.(Val773=) NC_000001.11:235808498:C:T Identity +NM_001142864.4:c.3357G>A NP_001136336.2:p.Glu1119= NC_000016.10:88727136:C:T p.(Glu1119=) NC_000016.10:88727136:C:T p.(Glu1119=) NC_000016.10:88727136:C:T Identity +NM_000118.4:c.642C>G NP_000109.1:p.Gly214= NC_000009.12:127825741:G:C p.(Gly214=) NC_000009.12:127825741:G:C p.(Gly214=) NC_000009.12:127825741:G:C Identity +NM_001291411.2:c.4350T>C NP_001278340.2:p.Pro1450= NC_000021.9:33553580:T:C p.(Pro1450=) NC_000021.9:33553580:T:C p.(Pro1450=) NC_000021.9:33553580:T:C Identity +NM_005413.4:c.993T>C NP_005404.1:p.Asp331= NC_000002.12:44944753:T:C p.(Asp331=) NC_000002.12:44944753:T:C p.(Asp331=) NC_000002.12:44944753:T:C Identity +NM_001256071.3:c.11340G>A NP_001243000.2:p.Thr3780= NC_000017.11:80361872:G:A p.(Thr3780=) NC_000017.11:80361872:G:A p.(Thr3780=) NC_000017.11:80361872:G:A Identity +NM_001077493.1:c.2184C>T NP_001070961.1:p.Phe728= NC_000010.11:102401291:C:T ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001146.5:c.490C>T NP_001137.2:p.Leu164= NC_000008.11:107336234:G:A p.(Leu164=) NC_000008.11:107336234:G:A p.(Leu164=) NC_000008.11:107336234:G:A Identity +NM_001134382.3:c.612C>T NP_001127854.1:p.Ser204= NC_000003.12:12936403:G:A p.(Ser204=) NC_000003.12:12936403:G:A p.(Ser204=) NC_000003.12:12936403:G:A Identity +NM_001386421.1:c.2673C>T NP_001373350.1:p.His891= NC_000003.12:45966660:G:A p.(His891=) NC_000003.12:45966660:G:A p.(His891=) NC_000003.12:45966660:G:A Identity +NM_001278552.2:c.138C>T NP_001265481.1:p.His46= NC_000002.12:219252050:G:A p.(His46=) NC_000002.12:219252050:G:A p.(His46=) NC_000002.12:219252050:G:A Identity +NM_001165979.2:c.3408C>T NP_001159451.1:p.Asp1136= NC_000010.11:94268978:C:T p.(Asp1136=) NC_000010.11:94268978:C:T p.(Asp1136=) NC_000010.11:94268978:C:T Identity +NM_001135821.2:c.657C>T NP_001129293.1:p.Tyr219= NC_000001.11:155318263:C:T p.(Tyr219=) NC_000001.11:155318263:C:T p.(Tyr219=) NC_000001.11:155318263:C:T Identity +NM_003487.4:c.1665_1688del NP_003478.1:p.554GYGGDRGG[1] NC_000017.11:35844967:GGCTATGGAGGAGACCGAGGTGGGGGCTA:GGCTA p.(Gly562_Gly569del) NC_000017.11:35844967:GGCTATGGAGGAGACCGAGGTGGGGGCTA:GGCTA p.(Gly562_Gly569del) NC_000017.11:35844972:TGGAGGAGACCGAGGTGGGGGCTA: Analogous +NM_000606.3:c.210C>T NP_000597.2:p.Ala70= NC_000009.12:136945704:C:T p.(Ala70=) NC_000009.12:136945704:C:T p.(Ala70=) NC_000009.12:136945704:C:T Identity +NM_002500.5:c.852T>C NP_002491.3:p.Ser284= NC_000002.12:181678008:A:G p.(Ser284=) NC_000002.12:181678008:A:G p.(Ser284=) NC_000002.12:181678008:A:G Identity +NM_001080421.3:c.2241C>T NP_001073890.2:p.Asp747= NC_000019.10:17645788:G:A p.(Asp747=) NC_000019.10:17645788:G:A p.(Asp747=) NC_000019.10:17645788:G:A Identity +NM_001145079.2:c.852G>A NP_001138551.1:p.Ala284= NC_000013.11:39687565:G:A p.(Ala284=) NC_000013.11:39687565:G:A p.(Ala284=) NC_000013.11:39687565:G:A Identity +NM_000193.4:c.1206C>T NP_000184.1:p.Gly402= NC_000007.14:155803082:G:A p.(Gly402=) NC_000007.14:155803082:G:A p.(Gly402=) NC_000007.14:155803082:G:A Identity +NM_001371271.1:c.813T>G NP_001358200.1:p.Gly271= NC_000002.12:120968882:T:G p.(Gly271=) NC_000002.12:120968882:T:G p.(Gly271=) NC_000002.12:120968882:T:G Identity +NM_032595.5:c.222G>T NP_115984.3:p.Ala74= NC_000017.11:50150291:C:A p.(Ala74=) NC_000017.11:50150291:C:A p.(Ala74=) NC_000017.11:50150291:C:A Identity +NM_001256834.3:c.816G>A NP_001243763.1:p.Ser272= NC_000017.11:8204966:C:T p.(Ser272=) NC_000017.11:8204966:C:T p.(Ser272=) NC_000017.11:8204966:C:T Identity +NM_001077196.2:c.1468T>C NP_001070664.1:p.Ter490Gln NC_000002.12:177629408:A:G p.(Ter490GlnextTer10) NC_000002.12:177629408:A:G p.(Ter490GlnextTer10) NC_000002.12:177629408:A:G Analogous +NM_001318520.2:c.1047G>T NP_001305449.1:p.Pro349= NC_000018.10:70109617:C:A p.(Pro349=) NC_000018.10:70109617:C:A p.(Pro349=) NC_000018.10:70109617:C:A Identity +NM_001012957.2:c.2172C>T NP_001012975.1:p.Asp724= NC_000001.11:232008913:C:T p.(Asp724=) NC_000001.11:232008913:C:T p.(Asp724=) NC_000001.11:232008913:C:T Identity +NM_001195610.2:c.258C>T NP_001182539.1:p.Tyr86= NC_000006.12:24357492:G:A p.(Tyr86=) NC_000006.12:24357492:G:A p.(Tyr86=) NC_000006.12:24357492:G:A Identity +NM_001079846.1:c.84A>T NP_001073315.1:p.Thr28= NC_000016.10:3879832:T:A p.(Thr28=) NC_000016.10:3879832:T:A p.(Thr28=) NC_000016.10:3879832:T:A Identity +NM_005456.4:c.375G>T NP_005447.1:p.Gly125= NC_000011.10:45900304:G:T p.(Gly125=) NC_000011.10:45900304:G:T p.(Gly125=) NC_000011.10:45900304:G:T Identity +NM_024923.4:c.4602G>A NP_079199.2:p.Thr1534= NC_000003.12:13325836:C:T p.(Thr1534=) NC_000003.12:13325836:C:T p.(Thr1534=) NC_000003.12:13325836:C:T Identity +NM_001388492.1:c.8835C>T NP_001375421.1:p.Ala2945= NC_000004.12:3236197:C:T p.(Ala2945=) NC_000004.12:3236197:C:T p.(Ala2945=) NC_000004.12:3236197:C:T Identity +NM_001144964.1:c.738T>C NP_001138436.1:p.Thr246= NC_000018.10:58335512:T:C p.(Thr246=) NC_000018.10:58335512:T:C p.(Thr246=) NC_000018.10:58335512:T:C Identity +NM_001042399.2:c.1308A>T NP_001035858.1:p.Ala436= NC_000012.12:94367828:T:A p.(Ala436=) NC_000012.12:94367828:T:A p.(Ala436=) NC_000012.12:94367828:T:A Identity +NM_001376.5:c.5079T>C NP_001367.2:p.Thr1693= NC_000014.9:102004790:T:C p.(Thr1693=) NC_000014.9:102004790:T:C p.(Thr1693=) NC_000014.9:102004790:T:C Identity +NM_001835.4:c.4575G>A NP_001826.3:p.Val1525= NC_000022.11:19183470:C:T p.(Val1525=) NC_000022.11:19183470:C:T p.(Val1525=) NC_000022.11:19183470:C:T Identity +NM_032242.4:c.846C>A NP_115618.3:p.Ile282= NC_000003.12:126989438:C:A p.(Ile282=) NC_000003.12:126989438:C:A p.(Ile282=) NC_000003.12:126989438:C:A Identity +NM_032242.4:c.2559C>T NP_115618.3:p.His853= NC_000003.12:127014329:C:T p.(His853=) NC_000003.12:127014329:C:T p.(His853=) NC_000003.12:127014329:C:T Identity +NM_001362884.2:c.1435C>A NP_001349813.1:p.Arg479= NC_000008.11:20250077:G:T p.(Arg479=) NC_000008.11:20250077:G:T p.(Arg479=) NC_000008.11:20250077:G:T Identity +NM_001199144.2:c.7677A>G NP_001186073.1:p.Thr2559= NC_000002.12:167249734:A:G p.(Thr2559=) NC_000002.12:167249734:A:G p.(Thr2559=) NC_000002.12:167249734:A:G Identity +NM_001256896.2:c.180C>T NP_001243825.1:p.Gly60= NC_000004.12:3493095:C:T p.(Gly60=) NC_000004.12:3493095:C:T p.(Gly60=) NC_000004.12:3493095:C:T Identity +NM_001371097.1:c.1290C>T NP_001358026.1:p.Cys430= NC_000012.12:20879589:C:T p.(Cys430=) NC_000012.12:20879589:C:T p.(Cys430=) NC_000012.12:20879589:C:T Identity +NM_001005366.2:c.3606C>T NP_001005366.1:p.Thr1202= NC_000012.12:121439872:G:A p.(Thr1202=) NC_000012.12:121439872:G:A p.(Thr1202=) NC_000012.12:121439872:G:A Identity +NM_001154458.3:c.606C>T NP_001147930.1:p.Ala202= NC_000016.10:4779768:G:A p.(Ala202=) NC_000016.10:4779768:G:A p.(Ala202=) NC_000016.10:4779768:G:A Identity +NM_001152.5:c.138T>C NP_001143.2:p.Thr46= NC_000023.11:119469686:T:C p.(Thr46=) NC_000023.11:119469686:T:C p.(Thr46=) NC_000023.11:119469686:T:C Identity +NM_001385683.1:c.318C>T NP_001372612.1:p.Asn106= NC_000003.12:45780044:G:A p.(Asn106=) NC_000003.12:45780044:G:A p.(Asn106=) NC_000003.12:45780044:G:A Identity +NM_000037.4:c.714C>T NP_000028.3:p.Asn238= NC_000008.11:41723630:G:A p.(Asn238=) NC_000008.11:41723630:G:A p.(Asn238=) NC_000008.11:41723630:G:A Identity +NM_018897.3:c.2064G>A NP_061720.2:p.Arg688= NC_000002.12:195970088:C:T p.(Arg688=) NC_000002.12:195970088:C:T p.(Arg688=) NC_000002.12:195970088:C:T Identity +NM_006610.4:c.1689G>A NP_006601.2:p.Arg563= NC_000001.11:11027256:C:T p.(Arg563=) NC_000001.11:11027256:C:T p.(Arg563=) NC_000001.11:11027256:C:T Identity +NM_001204136.2:c.861G>A NP_001191065.1:p.Gln287= NC_000018.10:50275176:C:T p.(Gln287=) NC_000018.10:50275176:C:T p.(Gln287=) NC_000018.10:50275176:C:T Identity +NM_001083900.1:c.5157C>T NP_001077369.1:p.Ile1719= NC_000012.12:123845749:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001322854.2:c.1164C>T NP_001309783.1:p.Gly388= NC_000001.11:24469127:C:T p.(Gly388=) NC_000001.11:24469127:C:T p.(Gly388=) NC_000001.11:24469127:C:T Identity +NM_144691.4:c.1227T>G NP_653292.2:p.Ala409= NC_000019.10:38737290:A:C p.(Ala409=) NC_000019.10:38737290:A:C p.(Ala409=) NC_000019.10:38737290:A:C Identity +NM_001244189.2:c.3273G>C NP_001231118.1:p.Gly1091= NC_000014.9:58482681:G:C p.(Gly1091=) NC_000014.9:58482681:G:C p.(Gly1091=) NC_000014.9:58482681:G:C Identity +NM_001379245.1:c.3681A>G NP_001366174.1:p.Ser1227= NC_000013.11:35159851:A:G p.(Ser1227=) NC_000013.11:35159851:A:G p.(Ser1227=) NC_000013.11:35159851:A:G Identity +NM_001077261.4:c.6543C>G NP_001070729.2:p.Ala2181= NC_000012.12:124334455:G:C p.(Ala2181=) NC_000012.12:124334455:G:C p.(Ala2181=) NC_000012.12:124334455:G:C Identity +NM_002293.4:c.2700C>T NP_002284.3:p.Pro900= NC_000001.11:183125448:C:T p.(Pro900=) NC_000001.11:183125448:C:T p.(Pro900=) NC_000001.11:183125448:C:T Identity +NM_001033117.3:c.858A>T NP_001028289.1:p.Ser286= NC_000003.12:9058415:T:A p.(Ser286=) NC_000003.12:9058415:T:A p.(Ser286=) NC_000003.12:9058415:T:A Identity +NM_001376256.1:c.360A>G NP_001363185.1:p.Thr120= NC_000016.10:21275558:T:C p.(Thr120=) NC_000016.10:21275558:T:C p.(Thr120=) NC_000016.10:21275558:T:C Identity +NM_001272046.2:c.357G>A NP_001258975.1:p.Lys119= NC_000010.11:114261280:G:A p.(Lys119=) NC_000010.11:114261280:G:A p.(Lys119=) NC_000010.11:114261280:G:A Identity +NM_000356.4:c.4059T>C NP_000347.2:p.Gly1353= NC_000005.10:150396789:T:C p.(Gly1353=) NC_000005.10:150396789:T:C p.(Gly1353=) NC_000005.10:150396789:T:C Identity +NM_001364292.3:c.1644A>G NP_001351221.1:p.Leu548= NC_000005.10:72889923:A:G p.(Leu548=) NC_000005.10:72889923:A:G p.(Leu548=) NC_000005.10:72889923:A:G Identity +NM_004225.3:c.2166C>T NP_004216.2:p.Leu722= NC_000008.11:8890892:G:A p.(Leu722=) NC_000008.11:8890892:G:A p.(Leu722=) NC_000008.11:8890892:G:A Identity +NM_001122633.3:c.2730T>C NP_001116105.2:p.Ile910= NC_000002.12:210637743:T:C p.(Ile910=) NC_000002.12:210637743:T:C p.(Ile910=) NC_000002.12:210637743:T:C Identity +NM_001320613.2:c.1533G>A NP_001307542.1:p.Ser511= NC_000002.12:24838444:C:T p.(Ser511=) NC_000002.12:24838444:C:T p.(Ser511=) NC_000002.12:24838444:C:T Identity +NM_020859.4:c.4593T>A NP_065910.3:p.Pro1531= NC_000004.12:76755075:T:A p.(Pro1531=) NC_000004.12:76755075:T:A p.(Pro1531=) NC_000004.12:76755075:T:A Identity +NM_025145.7:c.4134A>C NP_079421.5:p.Arg1378= NC_000010.11:104143449:T:G p.(Arg1378=) NC_000010.11:104143449:T:G p.(Arg1378=) NC_000010.11:104143449:T:G Identity +NM_001042355.2:c.2466C>T NP_001035814.1:p.His822= NC_000016.10:50794216:C:T p.(His822=) NC_000016.10:50794216:C:T p.(His822=) NC_000016.10:50794216:C:T Identity +NM_001401501.2:c.43377A>C NP_001388430.1:p.Thr14459= NC_000019.10:8888055:T:G ERR:TranscriptMismatch:expected A, found C at transcript indices 43429..43430 NC_000019.10:8856121:G:G ERR:NM_001401501.2:c.43377A>C: Variant reference (A) does not agree with reference sequence (C) ERR:NM_001401501.2:c.43377A>C: Variant reference (A) does not agree with reference sequence (C) Unknown +NM_001378006.1:c.867G>A NP_001364935.1:p.Thr289= NC_000011.10:70326754:G:A p.(Thr289=) NC_000011.10:70326754:G:A p.(Thr289=) NC_000011.10:70326754:G:A Identity +NM_206996.4:c.5001A>C NP_996879.1:p.Ala1667= NC_000001.11:117996421:T:G p.(Ala1667=) NC_000001.11:117996421:T:G p.(Ala1667=) NC_000001.11:117996421:T:G Identity +NM_001042724.2:c.288G>A NP_001036189.1:p.Pro96= NC_000019.10:44865469:G:A p.(Pro96=) NC_000019.10:44865469:G:A p.(Pro96=) NC_000019.10:44865469:G:A Identity +NM_001308210.2:c.3141G>A NP_001295139.1:p.Ala1047= NC_000018.10:75288547:G:A p.(Ala1047=) NC_000018.10:75288547:G:A p.(Ala1047=) NC_000018.10:75288547:G:A Identity +NM_001346506.2:c.2259G>A NP_001333435.1:p.Thr753= NC_000006.12:148544100:G:A p.(Thr753=) NC_000006.12:148544100:G:A p.(Thr753=) NC_000006.12:148544100:G:A Identity +NM_001372044.2:c.1056G>T NP_001358973.1:p.Gly352= NC_000022.11:50679373:G:T p.(Gly352=) NC_000022.11:50679373:G:T p.(Gly352=) NC_000022.11:50679373:G:T Identity +NM_013451.4:c.2895C>T NP_038479.1:p.Ser965= NC_000010.11:93361530:G:A p.(Ser965=) NC_000010.11:93361530:G:A p.(Ser965=) NC_000010.11:93361530:G:A Identity +NM_152542.5:c.580C>T NP_689755.3:p.Leu194= NC_000004.12:88268867:G:A p.(Leu194=) NC_000004.12:88268867:G:A p.(Leu194=) NC_000004.12:88268867:G:A Identity +NM_001083900.1:c.6586C>T NP_001077369.1:p.Leu2196= NC_000012.12:123864625:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001205138.4:c.414C>T NP_001192067.1:p.Ile138= NC_000011.10:72095408:C:T p.(Ile138=) NC_000011.10:72095408:C:T p.(Ile138=) NC_000011.10:72095408:C:T Identity +NM_001329752.2:c.654G>A NP_001316681.1:p.Val218= NC_000002.12:70297372:C:T p.(Val218=) NC_000002.12:70297372:C:T p.(Val218=) NC_000002.12:70297372:C:T Identity +NM_002143.3:c.282C>T NP_002134.2:p.Arg94= NC_000001.11:32889179:C:T p.(Arg94=) NC_000001.11:32889179:C:T p.(Arg94=) NC_000001.11:32889179:C:T Identity +NM_001304569.2:c.57G>T NP_001291498.1:p.Ala19= NC_000010.11:100746223:G:T p.(Ala19=) NC_000010.11:100746223:G:T p.(Ala19=) NC_000010.11:100746223:G:T Identity +NM_170606.3:c.13302G>A NP_733751.2:p.Leu4434= NC_000007.14:152148624:C:T p.(Leu4434=) NC_000007.14:152148624:C:T p.(Leu4434=) NC_000007.14:152148624:C:T Identity +NM_001042724.2:c.147C>T NP_001036189.1:p.Thr49= NC_000019.10:44865328:C:T p.(Thr49=) NC_000019.10:44865328:C:T p.(Thr49=) NC_000019.10:44865328:C:T Identity +NM_016941.4:c.1449C>G NP_058637.1:p.Leu483= NC_000019.10:39507393:C:G p.(Leu483=) NC_000019.10:39507393:C:G p.(Leu483=) NC_000019.10:39507393:C:G Identity +NM_001370060.1:c.459G>A NP_001356989.1:p.Ala153= NC_000009.12:14859354:C:T p.(Ala153=) NC_000009.12:14859354:C:T p.(Ala153=) NC_000009.12:14859354:C:T Identity +NM_001198910.2:c.1137C>T NP_001185839.1:p.Tyr379= NC_000013.11:36173785:G:A p.(Tyr379=) NC_000013.11:36173785:G:A p.(Tyr379=) NC_000013.11:36173785:G:A Identity +NM_001001549.3:c.354C>T NP_001001549.1:p.Leu118= NC_000007.14:50674443:G:A p.(Leu118=) NC_000007.14:50674443:G:A p.(Leu118=) NC_000007.14:50674443:G:A Identity +NM_001127892.2:c.181_184delinsG NP_001121364.1:p.Ser61_Ser62delinsGly NC_000016.10:51141746:TGCT:C p.(Ser61_Ser62delinsGly) NC_000016.10:51141746:TGCT:C p.(Ser61_Ser62delinsGly) NC_000016.10:51141746:TGCT:C Identity +NM_015409.5:c.1539A>G NP_056224.3:p.Ala513= NC_000012.12:131981591:A:G p.(Ala513=) NC_000012.12:131981591:A:G p.(Ala513=) NC_000012.12:131981591:A:G Identity +NM_001278312.2:c.1569A>G NP_001265241.1:p.Leu523= NC_000005.10:37331744:T:C p.(Leu523=) NC_000005.10:37331744:T:C p.(Leu523=) NC_000005.10:37331744:T:C Identity +NM_001355016.2:c.2187C>T NP_001341945.1:p.Asn729= NC_000005.10:150121287:G:A p.(Asn729=) NC_000005.10:150121287:G:A p.(Asn729=) NC_000005.10:150121287:G:A Identity +NM_017514.5:c.684C>T NP_059984.3:p.Tyr228= NC_000023.11:154461187:C:T p.(Tyr228=) NC_000023.11:154461187:C:T p.(Tyr228=) NC_000023.11:154461187:C:T Identity +NM_001351273.1:c.5157C>T NP_001338202.1:p.Phe1719= NC_000019.10:1468460:C:T p.(Phe1719=) NC_000019.10:1468460:C:T p.(Phe1719=) NC_000019.10:1468460:C:T Identity +NM_001042529.3:c.1185C>T NP_001035994.1:p.Ala395= NC_000017.11:42564845:C:T p.(Ala395=) NC_000017.11:42564845:C:T p.(Ala395=) NC_000017.11:42564845:C:T Identity +NM_001388492.1:c.1182C>T NP_001375421.1:p.Thr394= NC_000004.12:3121340:C:T p.(Thr394=) NC_000004.12:3121340:C:T p.(Thr394=) NC_000004.12:3121340:C:T Identity +NM_080629.3:c.927G>A NP_542196.2:p.Gly309= NC_000001.11:103025805:C:T p.(Gly309=) NC_000001.11:103025805:C:T p.(Gly309=) NC_000001.11:103025805:C:T Identity +NM_001024843.2:c.2172G>A NP_001020014.1:p.Gly724= NC_000022.11:40312902:G:A p.(Gly724=) NC_000022.11:40312902:G:A p.(Gly724=) NC_000022.11:40312902:G:A Identity +NM_207371.4:c.558C>G NP_997254.3:p.Arg186= NC_000010.11:21517264:G:C p.(Arg186=) NC_000010.11:21517264:G:C p.(Arg186=) NC_000010.11:21517264:G:C Identity +NM_001145795.2:c.1392G>A NP_001139267.1:p.Ser464= NC_000016.10:28871861:G:A p.(Ser464=) NC_000016.10:28871861:G:A p.(Ser464=) NC_000016.10:28871861:G:A Identity +NM_005986.3:c.119_130del NP_005977.2:p.Gly40_Gly43del NC_000013.11:112067772:GGCGGCGGCGGGGGCG:GGCG p.(Gly40_Gly43del) NC_000013.11:112067772:GGCGGCGGCGGGGGCG:GGCG p.(Gly40_Gly43del) NC_000013.11:112067776:GCGGCGGGGGCG: Identity +NM_014208.3:c.1428T>C NP_055023.2:p.Asp476= NC_000004.12:87614089:T:C p.(Asp476=) NC_000004.12:87614089:T:C p.(Asp476=) NC_000004.12:87614089:T:C Identity +NM_001379245.1:c.5709T>C NP_001366174.1:p.Phe1903= NC_000013.11:35232560:T:C p.(Phe1903=) NC_000013.11:35232560:T:C p.(Phe1903=) NC_000013.11:35232560:T:C Identity +NM_001348181.2:c.2049G>A NP_001335110.1:p.Lys683= NC_000002.12:24271931:C:T p.(Lys683=) NC_000002.12:24271931:C:T p.(Lys683=) NC_000002.12:24271931:C:T Identity +NM_003356.4:c.303C>A NP_003347.1:p.Ser101= NC_000011.10:74006202:G:T p.(Ser101=) NC_000011.10:74006202:G:T p.(Ser101=) NC_000011.10:74006202:G:T Identity +NM_000296.4:c.8301C>T NP_000287.4:p.Arg2767= NC_000016.10:2103755:G:A p.(Arg2767=) NC_000016.10:2103755:G:A p.(Arg2767=) NC_000016.10:2103755:G:A Identity +NM_182894.3:c.342G>T NP_878314.1:p.Pro114= NC_000014.9:74239902:G:T p.(Pro114=) NC_000014.9:74239902:G:T p.(Pro114=) NC_000014.9:74239902:G:T Identity +NM_031308.4:c.4833C>T NP_112598.3:p.Thr1611= NC_000008.11:143868420:G:A p.(Thr1611=) NC_000008.11:143868420:G:A p.(Thr1611=) NC_000008.11:143868420:G:A Identity +NM_001286349.2:c.1428G>A NP_001273278.1:p.Lys476= NC_000001.11:158094320:G:A p.(Lys476=) NC_000001.11:158094320:G:A p.(Lys476=) NC_000001.11:158094320:G:A Identity +NM_001197115.2:c.834A>T NP_001184044.1:p.Pro278= NC_000006.12:53507615:T:A p.(Pro278=) NC_000006.12:53507615:T:A p.(Pro278=) NC_000006.12:53507615:T:A Identity +NM_001174081.3:c.1392G>C NP_001167552.1:p.Val464= NC_000019.10:54983089:G:C p.(Val464=) NC_000019.10:54983089:G:C p.(Val464=) NC_000019.10:54983089:G:C Identity +NM_015286.6:c.576C>T NP_056101.5:p.Ala192= NC_000015.10:99105774:C:T p.(Ala192=) NC_000015.10:99105774:C:T p.(Ala192=) NC_000015.10:99105774:C:T Identity +NM_001318798.2:c.1263C>T NP_001305727.1:p.Val421= NC_000003.12:50185679:C:T p.(Val421=) NC_000003.12:50185679:C:T p.(Val421=) NC_000003.12:50185679:C:T Identity +NM_030773.4:c.942C>T NP_110400.1:p.Ala314= NC_000020.11:59024368:C:T p.(Ala314=) NC_000020.11:59024368:C:T p.(Ala314=) NC_000020.11:59024368:C:T Identity +NM_001146094.2:c.279C>T NP_001139566.1:p.Thr93= NC_000015.10:30904941:C:T p.(Thr93=) NC_000015.10:30904941:C:T p.(Thr93=) NC_000015.10:30904941:C:T Identity +NM_001080424.2:c.5046A>T NP_001073893.1:p.Arg1682= NC_000017.11:7853517:A:T p.(Arg1682=) NC_000017.11:7853517:A:T p.(Arg1682=) NC_000017.11:7853517:A:T Identity +NM_001330437.2:c.906A>G NP_001317366.1:p.Ser302= NC_000012.12:112477702:A:G p.(Ser302=) NC_000012.12:112477702:A:G p.(Ser302=) NC_000012.12:112477702:A:G Identity +NM_001257291.2:c.1032G>C NP_001244220.1:p.Val344= NC_000023.11:46662024:C:G p.(Val344=) NC_000023.11:46662024:C:G p.(Val344=) NC_000023.11:46662024:C:G Identity +NM_001033576.2:c.1302C>T NP_001028748.1:p.Arg434= NC_000017.11:35168210:C:T p.(Arg434=) NC_000017.11:35168210:C:T p.(Arg434=) NC_000017.11:35168210:C:T Identity +NM_003487.4:c.123G>A NP_003478.1:p.Thr41= NC_000017.11:35820186:G:A p.(Thr41=) NC_000017.11:35820186:G:A p.(Thr41=) NC_000017.11:35820186:G:A Identity +NM_001322033.2:c.1098C>T NP_001308962.1:p.Leu366= NC_000019.10:38717270:C:T p.(Leu366=) NC_000019.10:38717270:C:T p.(Leu366=) NC_000019.10:38717270:C:T Identity +NM_001362843.2:c.6291G>A NP_001349772.1:p.Gly2097= NC_000022.11:41178079:G:A p.(Gly2097=) NC_000022.11:41178079:G:A p.(Gly2097=) NC_000022.11:41178079:G:A Identity +NM_001130065.2:c.462C>T NP_001123537.1:p.Leu154= NC_000019.10:17102178:C:T p.(Leu154=) NC_000019.10:17102178:C:T p.(Leu154=) NC_000019.10:17102178:C:T Identity +NM_001093.4:c.2523T>C NP_001084.3:p.Asn841= NC_000012.12:109197048:T:C p.(Asn841=) NC_000012.12:109197048:T:C p.(Asn841=) NC_000012.12:109197048:T:C Identity +NM_001018088.3:c.2550T>A NP_001018098.1:p.Ile850= NC_000015.10:61973520:A:T p.(Ile850=) NC_000015.10:61973520:A:T p.(Ile850=) NC_000015.10:61973520:A:T Identity +NM_001407.3:c.934C>A NP_001398.2:p.Arg312= NC_000003.12:48661700:G:T p.(Arg312=) NC_000003.12:48661700:G:T p.(Arg312=) NC_000003.12:48661700:G:T Identity +NM_001025108.2:c.648G>A NP_001020279.1:p.Val216= NC_000002.12:100006931:C:T p.(Val216=) NC_000002.12:100006931:C:T p.(Val216=) NC_000002.12:100006931:C:T Identity +NM_020713.3:c.1779G>T NP_065764.1:p.Arg593= NC_000020.11:63963359:C:A p.(Arg593=) NC_000020.11:63963359:C:A p.(Arg593=) NC_000020.11:63963359:C:A Identity +NM_005330.4:c.177C>T NP_005321.1:p.Pro59= NC_000011.10:5269591:G:A p.(Pro59=) NC_000011.10:5269591:G:A p.(Pro59=) NC_000011.10:5269591:G:A Identity +NM_001204514.2:c.600A>G NP_001191443.1:p.Leu200= NC_000001.11:170031892:T:C p.(Leu200=) NC_000001.11:170031892:T:C p.(Leu200=) NC_000001.11:170031892:T:C Identity +NM_001321238.2:c.15T>A NP_001308167.1:p.Ile5= NC_000003.12:132661035:T:A p.(Ile5=) NC_000003.12:132661035:T:A p.(Ile5=) NC_000003.12:132661035:T:A Identity +NM_001198950.3:c.4617G>A NP_001185879.1:p.Lys1539= NC_000013.11:109140828:G:A p.(Lys1539=) NC_000013.11:109140828:G:A p.(Lys1539=) NC_000013.11:109140828:G:A Identity +NM_005245.4:c.4614T>C NP_005236.2:p.Asp1538= NC_000004.12:186628349:A:G p.(Asp1538=) NC_000004.12:186628349:A:G p.(Asp1538=) NC_000004.12:186628349:A:G Identity +NM_023083.4:c.1341G>A NP_075571.2:p.Ala447= NC_000002.12:240596380:G:A p.(Ala447=) NC_000002.12:240596380:G:A p.(Ala447=) NC_000002.12:240596380:G:A Identity +NM_001281739.3:c.2490T>A NP_001268668.1:p.Pro830= NC_000018.10:36718363:T:A p.(Pro830=) NC_000018.10:36718363:T:A p.(Pro830=) NC_000018.10:36718363:T:A Identity +NM_005189.3:c.1125C>T NP_005180.1:p.Ala375= NC_000017.11:79784567:C:T p.(Ala375=) NC_000017.11:79784567:C:T p.(Ala375=) NC_000017.11:79784567:C:T Identity +NM_001375638.1:c.1890C>T NP_001362567.1:p.Ile630= NC_000019.10:54457989:C:T p.(Ile630=) NC_000019.10:54457989:C:T p.(Ile630=) NC_000019.10:54457989:C:T Identity +NM_001365627.1:c.510A>G NP_001352556.1:p.Pro170= NC_000003.12:33687095:T:C p.(Pro170=) NC_000003.12:33687095:T:C p.(Pro170=) NC_000003.12:33687095:T:C Identity +NM_001145112.2:c.693C>T NP_001138584.1:p.Asp231= NC_000015.10:44670051:G:A p.(Asp231=) NC_000015.10:44670051:G:A p.(Asp231=) NC_000015.10:44670051:G:A Identity +NM_173651.4:c.17223T>C NP_775922.3:p.Asn5741= NC_000002.12:185806528:T:C p.(Asn5741=) NC_000002.12:185806528:T:C p.(Asn5741=) NC_000002.12:185806528:T:C Identity +NM_002516.4:c.1152T>G NP_002507.1:p.Ala384= NC_000019.10:45940189:A:C p.(Ala384=) NC_000019.10:45940189:A:C p.(Ala384=) NC_000019.10:45940189:A:C Identity +NM_001172502.1:c.63C>T NP_001165973.1:p.Asp21= NC_000016.10:55671908:C:T p.(Asp21=) NC_000016.10:55671908:C:T p.(Asp21=) NC_000016.10:55671908:C:T Identity +NM_003255.5:c.36C>T NP_003246.1:p.Leu12= NC_000017.11:78925052:G:A p.(Leu12=) NC_000017.11:78925052:G:A p.(Leu12=) NC_000017.11:78925052:G:A Identity +NM_001184785.2:c.1749C>G NP_001171714.1:p.Thr583= NC_000010.11:34360217:G:C p.(Thr583=) NC_000010.11:34360217:G:C p.(Thr583=) NC_000010.11:34360217:G:C Identity +NM_001353684.2:c.537C>T NP_001340613.1:p.Cys179= NC_000021.9:31146931:G:A p.(Cys179=) NC_000021.9:31146931:G:A p.(Cys179=) NC_000021.9:31146931:G:A Identity +NM_020853.2:c.1590C>T NP_065904.1:p.Pro530= NC_000012.12:13076090:C:T p.(Pro530=) NC_000012.12:13076090:C:T p.(Pro530=) NC_000012.12:13076090:C:T Identity +NM_001145678.3:c.2508C>T NP_001139150.1:p.Ser836= NC_000005.10:94417354:G:A p.(Ser836=) NC_000005.10:94417354:G:A p.(Ser836=) NC_000005.10:94417354:G:A Identity +NM_001364292.3:c.453C>T NP_001351221.1:p.Ala151= NC_000005.10:72865609:C:T p.(Ala151=) NC_000005.10:72865609:C:T p.(Ala151=) NC_000005.10:72865609:C:T Identity +NM_004170.6:c.1290C>T NP_004161.4:p.Ala430= NC_000009.12:4583133:C:T p.(Ala430=) NC_000009.12:4583133:C:T p.(Ala430=) NC_000009.12:4583133:C:T Identity +NM_001290321.3:c.2076C>T NP_001277250.1:p.Asp692= NC_000005.10:119133999:C:T p.(Asp692=) NC_000005.10:119133999:C:T p.(Asp692=) NC_000005.10:119133999:C:T Identity +NM_001105244.2:c.594T>C NP_001098714.1:p.Ala198= NC_000018.10:7926613:T:C p.(Ala198=) NC_000018.10:7926613:T:C p.(Ala198=) NC_000018.10:7926613:T:C Identity +NM_001080527.2:c.339C>G NP_001073996.1:p.Leu113= NC_000002.12:127566695:C:G p.(Leu113=) NC_000002.12:127566695:C:G p.(Leu113=) NC_000002.12:127566695:C:G Identity +NM_001394011.1:c.3339C>T NP_001380940.1:p.Asp1113= NC_000019.10:5221049:G:A p.(Asp1113=) NC_000019.10:5221049:G:A p.(Asp1113=) NC_000019.10:5221049:G:A Identity +NM_001271938.2:c.135G>A NP_001258867.1:p.Thr45= NC_000019.10:42326377:G:A p.(Thr45=) NC_000019.10:42326377:G:A p.(Thr45=) NC_000019.10:42326377:G:A Identity +NM_001042459.3:c.750G>A NP_001035924.1:p.Thr250= NC_000003.12:99850925:C:T p.(Thr250=) NC_000003.12:99850925:C:T p.(Thr250=) NC_000003.12:99850925:C:T Identity +NM_005173.4:c.498C>T NP_005164.2:p.Ile166= NC_000017.11:3950738:G:A p.(Ile166=) NC_000017.11:3950738:G:A p.(Ile166=) NC_000017.11:3950738:G:A Identity +NM_001127714.3:c.126A>T NP_001121186.1:p.Thr42= NC_000001.11:41584671:T:A p.(Thr42=) NC_000001.11:41584671:T:A p.(Thr42=) NC_000001.11:41584671:T:A Identity +NM_005652.5:c.240G>C NP_005643.2:p.Pro80= NC_000016.10:69385731:C:G p.(Pro80=) NC_000016.10:69385731:C:G p.(Pro80=) NC_000016.10:69385731:C:G Identity +NM_001105513.3:c.2553C>T NP_001098983.2:p.Tyr851= NC_000003.12:39133164:C:T p.(Tyr851=) NC_000003.12:39133164:C:T p.(Tyr851=) NC_000003.12:39133164:C:T Identity +NM_001160.3:c.2430C>A NP_001151.1:p.Ile810= NC_000012.12:98699565:C:A p.(Ile810=) NC_000012.12:98699565:C:A p.(Ile810=) NC_000012.12:98699565:C:A Identity +NM_001451.3:c.306C>G NP_001442.2:p.Leu102= NC_000016.10:86510874:C:G p.(Leu102=) NC_000016.10:86510874:C:G p.(Leu102=) NC_000016.10:86510874:C:G Identity +NM_002293.4:c.4797C>T NP_002284.3:p.Gly1599= NC_000001.11:183142756:C:T p.(Gly1599=) NC_000001.11:183142756:C:T p.(Gly1599=) NC_000001.11:183142756:C:T Identity +NM_004915.4:c.1380C>T NP_004906.3:p.Phe460= NC_000021.9:42290168:C:T p.(Phe460=) NC_000021.9:42290168:C:T p.(Phe460=) NC_000021.9:42290168:C:T Identity +NM_000466.3:c.1587A>G NP_000457.1:p.Gln529= NC_000007.14:92510943:T:C p.(Gln529=) NC_000007.14:92510943:T:C p.(Gln529=) NC_000007.14:92510943:T:C Identity +NM_001135052.4:c.192C>T NP_001128524.1:p.Tyr64= NC_000009.12:90844089:C:T p.(Tyr64=) NC_000009.12:90844089:C:T p.(Tyr64=) NC_000009.12:90844089:C:T Identity +NM_000511.6:c.348C>T NP_000502.4:p.Ser116= NC_000019.10:48703303:C:T p.(Ser116=) NC_000019.10:48703303:C:T p.(Ser116=) NC_000019.10:48703303:C:T Identity +NM_001085454.2:c.1575G>C NP_001078923.1:p.Leu525= NC_000017.11:29576282:C:G p.(Leu525=) NC_000017.11:29576282:C:G p.(Leu525=) NC_000017.11:29576282:C:G Identity +NM_001034915.3:c.1494G>A NP_001030087.2:p.Ala498= NC_000008.11:94674348:G:A p.(Ala498=) NC_000008.11:94674348:G:A p.(Ala498=) NC_000008.11:94674348:G:A Identity +NM_001348729.2:c.3045T>C NP_001335658.1:p.Asp1015= NC_000002.12:8751613:A:G p.(Asp1015=) NC_000002.12:8751613:A:G p.(Asp1015=) NC_000002.12:8751613:A:G Identity +NM_001005366.2:c.2037C>T NP_001005366.1:p.Asn679= NC_000012.12:121444509:G:A p.(Asn679=) NC_000012.12:121444509:G:A p.(Asn679=) NC_000012.12:121444509:G:A Identity +NM_001243286.2:c.138G>A NP_001230215.1:p.Leu46= NC_000003.12:111072154:G:A p.(Leu46=) NC_000003.12:111072154:G:A p.(Leu46=) NC_000003.12:111072154:G:A Identity +NM_001440.4:c.342C>A NP_001431.1:p.Ile114= NC_000008.11:28716400:C:A p.(Ile114=) NC_000008.11:28716400:C:A p.(Ile114=) NC_000008.11:28716400:C:A Identity +NM_001174081.3:c.549G>A NP_001167552.1:p.Gln183= NC_000019.10:54982246:G:A p.(Gln183=) NC_000019.10:54982246:G:A p.(Gln183=) NC_000019.10:54982246:G:A Identity +NM_001282175.2:c.810C>T NP_001269104.1:p.Tyr270= NC_000019.10:44987236:C:T p.(Tyr270=) NC_000019.10:44987236:C:T p.(Tyr270=) NC_000019.10:44987236:C:T Identity +NM_001162383.2:c.1185G>A NP_001155855.1:p.Pro395= NC_000001.11:155962138:C:T p.(Pro395=) NC_000001.11:155962138:C:T p.(Pro395=) NC_000001.11:155962138:C:T Identity +NM_001130518.2:c.348C>G NP_001123990.1:p.Thr116= NC_000008.11:19505486:G:C p.(Thr116=) NC_000008.11:19505486:G:C p.(Thr116=) NC_000008.11:19505486:G:C Identity +NM_001165974.2:c.1995C>T NP_001159446.1:p.Phe665= NC_000003.12:126483443:G:A p.(Phe665=) NC_000003.12:126483443:G:A p.(Phe665=) NC_000003.12:126483443:G:A Identity +NM_001286445.3:c.999T>A NP_001273374.1:p.Leu333= NC_000006.12:24849836:A:T p.(Leu333=) NC_000006.12:24849836:A:T p.(Leu333=) NC_000006.12:24849836:A:T Identity +NM_001193306.2:c.1038G>A NP_001180235.1:p.Glu346= NC_000019.10:51745956:C:T p.(Glu346=) NC_000019.10:51745956:C:T p.(Glu346=) NC_000019.10:51745956:C:T Identity +NM_000095.3:c.1587C>T NP_000086.2:p.Thr529= NC_000019.10:18785753:G:A p.(Thr529=) NC_000019.10:18785753:G:A p.(Thr529=) NC_000019.10:18785753:G:A Identity +NM_001194.4:c.1503C>T NP_001185.3:p.His501= NC_000019.10:610323:C:T p.(His501=) NC_000019.10:610323:C:T p.(His501=) NC_000019.10:610323:C:T Identity +NM_001605.3:c.543G>T NP_001596.2:p.Thr181= NC_000016.10:70271908:C:A p.(Thr181=) NC_000016.10:70271908:C:A p.(Thr181=) NC_000016.10:70271908:C:A Identity +NM_031308.4:c.5157G>C NP_112598.3:p.Ala1719= NC_000008.11:143868096:C:G p.(Ala1719=) NC_000008.11:143868096:C:G p.(Ala1719=) NC_000008.11:143868096:C:G Identity +NM_001367493.1:c.4422C>T NP_001354422.1:p.Val1474= NC_000002.12:131040131:C:T p.(Val1474=) NC_000002.12:131040131:C:T p.(Val1474=) NC_000002.12:131040131:C:T Identity +NM_002238.4:c.67C>A NP_002229.1:p.Arg23= NC_000001.11:211133878:G:T p.(Arg23=) NC_000001.11:211133878:G:T p.(Arg23=) NC_000001.11:211133878:G:T Identity +NM_005330.4:c.33C>T NP_005321.1:p.Ala11= NC_000011.10:5269857:G:A p.(Ala11=) NC_000011.10:5269857:G:A p.(Ala11=) NC_000011.10:5269857:G:A Identity +NM_001093.4:c.2259C>T NP_001084.3:p.Thr753= NC_000012.12:109191726:C:T p.(Thr753=) NC_000012.12:109191726:C:T p.(Thr753=) NC_000012.12:109191726:C:T Identity +NM_001363068.2:c.1062A>G NP_001349997.1:p.Glu354= NC_000008.11:22614857:A:G p.(Glu354=) NC_000008.11:22614857:A:G p.(Glu354=) NC_000008.11:22614857:A:G Identity +NM_178229.5:c.3798C>T NP_839943.3:p.Asp1266= NC_000001.11:156534083:G:A p.(Asp1266=) NC_000001.11:156534083:G:A p.(Asp1266=) NC_000001.11:156534083:G:A Identity +NM_001290259.2:c.2190T>C NP_001277188.1:p.Tyr730= NC_000006.12:63692000:T:C p.(Tyr730=) NC_000006.12:63692000:T:C p.(Tyr730=) NC_000006.12:63692000:T:C Identity +NM_001025108.2:c.2136G>A NP_001020279.1:p.Glu712= NC_000002.12:99593599:C:T p.(Glu712=) NC_000002.12:99593599:C:T p.(Glu712=) NC_000002.12:99593599:C:T Identity +NM_001394011.1:c.4878C>T NP_001380940.1:p.Ala1626= NC_000019.10:5212075:G:A p.(Ala1626=) NC_000019.10:5212075:G:A p.(Ala1626=) NC_000019.10:5212075:G:A Identity +NM_000296.4:c.5565C>T NP_000287.4:p.Val1855= NC_000016.10:2109601:G:A p.(Val1855=) NC_000016.10:2109601:G:A p.(Val1855=) NC_000016.10:2109601:G:A Identity +NM_001252335.2:c.3789G>A NP_001239264.1:p.Pro1263= NC_000015.10:57547369:G:A p.(Pro1263=) NC_000015.10:57547369:G:A p.(Pro1263=) NC_000015.10:57547369:G:A Identity +NM_001401501.2:c.43044C>G NP_001388430.1:p.Thr14348= NC_000019.10:8889789:G:C p.(Pro14348=) NC_000019.10:8861093:G:C p.(Pro14348=) NC_000019.10:8861093:G:C Analogous +NM_001184785.2:c.2838A>G NP_001171714.1:p.Glu946= NC_000010.11:34317333:T:C p.(Glu946=) NC_000010.11:34317333:T:C p.(Glu946=) NC_000010.11:34317333:T:C Identity +NM_001286527.3:c.1734G>A NP_001273456.2:p.Pro578= NC_000016.10:84451993:G:A p.(Pro578=) NC_000016.10:84451993:G:A p.(Pro578=) NC_000016.10:84451993:G:A Identity +NM_001080453.3:c.2655G>A NP_001073922.2:p.Ser885= NC_000007.14:1487092:C:T p.(Ser885=) NC_000007.14:1487092:C:T p.(Ser885=) NC_000007.14:1487092:C:T Identity +NM_004638.4:c.4752C>T NP_004629.3:p.Phe1584= NC_000006.12:31634267:C:T p.(Phe1584=) NC_000006.12:31634267:C:T p.(Phe1584=) NC_000006.12:31634267:C:T Identity +NM_014991.6:c.3291C>G NP_055806.2:p.Pro1097= NC_000004.12:84794714:G:C p.(Pro1097=) NC_000004.12:84794714:G:C p.(Pro1097=) NC_000004.12:84794714:G:C Identity +NM_001385026.1:c.4719C>T NP_001371955.1:p.Asp1573= NC_000015.10:77114677:G:A p.(Asp1573=) NC_000015.10:77114677:G:A p.(Asp1573=) NC_000015.10:77114677:G:A Identity +NM_001393897.1:c.3663C>T NP_001380826.1:p.Tyr1221= NC_000007.14:132179897:G:A p.(Tyr1221=) NC_000007.14:132179897:G:A p.(Tyr1221=) NC_000007.14:132179897:G:A Identity +NM_005173.4:c.2352C>T NP_005164.2:p.Pro784= NC_000017.11:3936438:G:A p.(Pro784=) NC_000017.11:3936438:G:A p.(Pro784=) NC_000017.11:3936438:G:A Identity +NM_020719.3:c.4602T>C NP_065770.1:p.Ser1534= NC_000019.10:49601746:T:C p.(Ser1534=) NC_000019.10:49601746:T:C p.(Ser1534=) NC_000019.10:49601746:T:C Identity +NM_003970.4:c.4200C>T NP_003961.3:p.Tyr1400= NC_000008.11:2144782:C:T p.(Tyr1400=) NC_000008.11:2144782:C:T p.(Tyr1400=) NC_000008.11:2144782:C:T Identity +NM_001198625.2:c.1392C>T NP_001185554.1:p.Ala464= NC_000008.11:91970723:G:A p.(Ala464=) NC_000008.11:91970723:G:A p.(Ala464=) NC_000008.11:91970723:G:A Identity +NM_001080424.2:c.2253CAC[13] NP_001073893.1:p.Thr762_Ala763insThrThr NC_000017.11:7848540:CACCACCACCACCACCACCACCACCACCACCAC:CACCACCACCACCACCACCACCACCACCACCACCACCAC p.(Thr761_Thr762dup) NC_000017.11:7848540:C:CACCACCACCACCACCACCACCACCACCACCACCACCAC ERR:Parse ERR:Parse Analogous +NM_001111322.2:c.939C>T NP_001104792.1:p.Thr313= NC_000012.12:113174768:G:A p.(Thr313=) NC_000012.12:113174768:G:A p.(Thr313=) NC_000012.12:113174768:G:A Identity +NM_001329907.2:c.339G>A NP_001316836.1:p.Arg113= NC_000015.10:31559179:C:T p.(Arg113=) NC_000015.10:31559179:C:T p.(Arg113=) NC_000015.10:31559179:C:T Identity +NM_001386735.1:c.2328G>A NP_001373664.1:p.Ala776= NC_000016.10:72957817:C:T p.(Ala776=) NC_000016.10:72957817:C:T p.(Ala776=) NC_000016.10:72957817:C:T Identity +NM_152631.3:c.711G>A NP_689844.2:p.Pro237= NC_000023.11:34943541:G:A p.(Pro237=) NC_000023.11:34943541:G:A p.(Pro237=) NC_000023.11:34943541:G:A Identity +NM_001080973.1:c.1548C>T NP_001074442.1:p.His516= NC_000003.12:57098154:G:A ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found +NM_018557.3:c.4104A>G NP_061027.2:p.Leu1368= NC_000002.12:140883881:T:C p.(Leu1368=) NC_000002.12:140883881:T:C p.(Leu1368=) NC_000002.12:140883881:T:C Identity +NM_001387777.1:c.4593C>T NP_001374706.1:p.Thr1531= NC_000002.12:217817738:G:A p.(Thr1531=) NC_000002.12:217817738:G:A p.(Thr1531=) NC_000002.12:217817738:G:A Identity +NM_014753.4:c.1749A>G NP_055568.3:p.Thr583= NC_000010.11:42796992:A:G p.(Thr583=) NC_000010.11:42796992:A:G p.(Thr583=) NC_000010.11:42796992:A:G Identity +NM_000606.3:c.453C>T NP_000597.2:p.Tyr151= NC_000009.12:136946190:C:T p.(Tyr151=) NC_000009.12:136946190:C:T p.(Tyr151=) NC_000009.12:136946190:C:T Identity +NM_001145678.3:c.1227G>A NP_001139150.1:p.Glu409= NC_000005.10:94477110:C:T p.(Glu409=) NC_000005.10:94477110:C:T p.(Glu409=) NC_000005.10:94477110:C:T Identity +NM_004522.3:c.1893G>C NP_004513.1:p.Leu631= NC_000002.12:148991185:G:C p.(Leu631=) NC_000002.12:148991185:G:C p.(Leu631=) NC_000002.12:148991185:G:C Identity +NM_004599.4:c.1704G>A NP_004590.2:p.Ser568= NC_000022.11:41878065:G:A p.(Ser568=) NC_000022.11:41878065:G:A p.(Ser568=) NC_000022.11:41878065:G:A Identity +NM_001330290.2:c.1212G>A NP_001317219.1:p.Val404= NC_000002.12:240771174:C:T p.(Val404=) NC_000002.12:240771174:C:T p.(Val404=) NC_000002.12:240771174:C:T Identity +NM_001142730.3:c.1791T>C NP_001136202.1:p.Ala597= NC_000018.10:26546745:A:G p.(Ala597=) NC_000018.10:26546745:A:G p.(Ala597=) NC_000018.10:26546745:A:G Identity +NM_144691.4:c.1332_1340dup NP_653292.2:p.Thr447_Val448insTyrLeuThr NC_000019.10:38737177:GTGAGGTAAGTGAGG:GTGAGGTAAGTGAGGTAAGTGAGG p.(Tyr445_Thr447dup) NC_000019.10:38737177:GTGAGGTAAGTGAGG:GTGAGGTAAGTGAGGTAAGTGAGG p.(Tyr445_Thr447dup) ERR:SPDI Analogous +NM_139285.4:c.2433C>T NP_644814.1:p.Pro811= NC_000017.11:35745063:G:A p.(Pro811=) NC_000017.11:35745063:G:A p.(Pro811=) NC_000017.11:35745063:G:A Identity +NM_001271052.1:c.807G>A NP_001257981.1:p.Pro269= NC_000019.10:14765544:C:T p.(Pro269=) NC_000019.10:14765544:C:T p.(Pro269=) NC_000019.10:14765544:C:T Identity +NM_001080527.2:c.3405C>T NP_001073996.1:p.Ser1135= NC_000002.12:127620423:C:T p.(Ser1135=) NC_000002.12:127620423:C:T p.(Ser1135=) NC_000002.12:127620423:C:T Identity +NM_001354668.2:c.855G>A NP_001341597.1:p.Ala285= NC_000003.12:12406116:G:A p.(Ala285=) NC_000003.12:12406116:G:A p.(Ala285=) NC_000003.12:12406116:G:A Identity +NM_001242835.2:c.874T>C NP_001229764.1:p.Leu292= NC_000016.10:58510652:T:C p.(Leu292=) NC_000016.10:58510652:T:C p.(Leu292=) NC_000016.10:58510652:T:C Identity +NM_001104.4:c.741G>A NP_001095.2:p.Pro247= NC_000011.10:66556166:G:A p.(Pro247=) NC_000011.10:66556166:G:A p.(Pro247=) NC_000011.10:66556166:G:A Identity +NM_020856.4:c.3144G>A NP_065907.2:p.Arg1048= NC_000019.10:31276648:C:T p.(Arg1048=) NC_000019.10:31276648:C:T p.(Arg1048=) NC_000019.10:31276648:C:T Identity +NM_004497.3:c.963C>T NP_004488.2:p.Asp321= NC_000019.10:45872967:C:T p.(Asp321=) NC_000019.10:45872967:C:T p.(Asp321=) NC_000019.10:45872967:C:T Identity +NM_005260.7:c.205C>T NP_005251.1:p.Leu69= NC_000005.10:132864328:G:A p.(Leu69=) NC_000005.10:132864328:G:A p.(Leu69=) NC_000005.10:132864328:G:A Identity +NM_002943.4:c.541T>C NP_002934.1:p.Leu181= NC_000015.10:60511579:A:G p.(Leu181=) NC_000015.10:60511579:A:G p.(Leu181=) NC_000015.10:60511579:A:G Identity +NM_025082.4:c.759C>T NP_079358.3:p.Asn253= NC_000016.10:67830492:G:A p.(Asn253=) NC_000016.10:67830492:G:A p.(Asn253=) NC_000016.10:67830492:G:A Identity +NM_001105543.2:c.804C>A NP_001099013.1:p.Gly268= NC_000007.14:132507889:G:T p.(Gly268=) NC_000007.14:132507889:G:T p.(Gly268=) NC_000007.14:132507889:G:T Identity +NM_001378454.1:c.9405T>C NP_001365383.1:p.Ser3135= NC_000002.12:73491363:T:C p.(Ser3135=) NC_000002.12:73491363:T:C p.(Ser3135=) NC_000002.12:73491363:T:C Identity +NM_012293.3:c.2793C>T NP_036425.1:p.Ser931= NC_000002.12:1648986:G:A p.(Ser931=) NC_000002.12:1648986:G:A p.(Ser931=) NC_000002.12:1648986:G:A Identity +NM_000505.4:c.345C>T NP_000496.2:p.Ser115= NC_000005.10:177405374:G:A p.(Ser115=) NC_000005.10:177405374:G:A p.(Ser115=) NC_000005.10:177405374:G:A Identity +NM_002296.4:c.1788C>A NP_002287.2:p.Gly596= NC_000001.11:225403362:G:T p.(Gly596=) NC_000001.11:225403362:G:T p.(Gly596=) NC_000001.11:225403362:G:T Identity +NM_005225.3:c.1239C>T NP_005216.1:p.Phe413= NC_000020.11:33676806:G:A p.(Phe413=) NC_000020.11:33676806:G:A p.(Phe413=) NC_000020.11:33676806:G:A Identity +NM_138295.5:c.5397G>A NP_612152.1:p.Ala1799= NC_000007.14:47843009:C:T p.(Ala1799=) NC_000007.14:47843009:C:T p.(Ala1799=) NC_000007.14:47843009:C:T Identity +NM_001394011.1:c.831C>T NP_001380940.1:p.Asp277= NC_000019.10:5245893:G:A p.(Asp277=) NC_000019.10:5245893:G:A p.(Asp277=) NC_000019.10:5245893:G:A Identity +NM_014865.4:c.1026G>A NP_055680.3:p.Ala342= NC_000012.12:6516865:G:A p.(Ala342=) NC_000012.12:6516865:G:A p.(Ala342=) NC_000012.12:6516865:G:A Identity +NM_001378620.1:c.1077T>C NP_001365549.1:p.Asn359= NC_000014.9:92456429:T:C p.(Asn359=) NC_000014.9:92456429:T:C p.(Asn359=) NC_000014.9:92456429:T:C Identity +NM_021012.5:c.459G>A NP_066292.2:p.Glu153= NC_000017.11:21415800:G:A p.(Glu153=) NC_000017.11:21415800:G:A p.(Glu153=) NC_000017.11:21415800:G:A Identity +NM_018951.4:c.99G>T NP_061824.3:p.Ser33= NC_000007.14:27174207:C:A p.(Ser33=) NC_000007.14:27174207:C:A p.(Ser33=) NC_000007.14:27174207:C:A Identity +NM_016205.3:c.546A>C NP_057289.1:p.Pro182= NC_000004.12:156772842:T:G p.(Pro182=) NC_000004.12:156772842:T:G p.(Pro182=) NC_000004.12:156772842:T:G Identity +NM_003970.4:c.876C>T NP_003961.3:p.Gly292= NC_000008.11:2072426:C:T p.(Gly292=) NC_000008.11:2072426:C:T p.(Gly292=) NC_000008.11:2072426:C:T Identity +NM_020921.4:c.4014C>T NP_065972.4:p.Ser1338= NC_000014.9:50757015:G:A p.(Ser1338=) NC_000014.9:50757015:G:A p.(Ser1338=) NC_000014.9:50757015:G:A Identity +NM_001282679.2:c.3315C>T NP_001269608.1:p.Ser1105= NC_000009.12:125349480:C:T p.(Ser1105=) NC_000009.12:125349480:C:T p.(Ser1105=) NC_000009.12:125349480:C:T Identity +NM_014611.3:c.4092G>A NP_055426.1:p.Val1364= NC_000006.12:89745358:C:T p.(Val1364=) NC_000006.12:89745358:C:T p.(Val1364=) NC_000006.12:89745358:C:T Identity +NM_021224.6:c.4857C>G NP_067047.4:p.Leu1619= NC_000009.12:106928768:C:G p.(Leu1619=) NC_000009.12:106928768:C:G p.(Leu1619=) NC_000009.12:106928768:C:G Identity +NM_001408.3:c.8571C>G NP_001399.1:p.Pro2857= NC_000001.11:109273496:C:G p.(Pro2857=) NC_000001.11:109273496:C:G p.(Pro2857=) NC_000001.11:109273496:C:G Identity +NM_016148.5:c.6420A>G NP_057232.2:p.Leu2140= NC_000019.10:50662030:T:C p.(Leu2140=) NC_000019.10:50662030:T:C p.(Leu2140=) NC_000019.10:50662030:T:C Identity +NM_005959.5:c.816C>T NP_005950.1:p.Leu272= NC_000011.10:92982038:C:T p.(Leu272=) NC_000011.10:92982038:C:T p.(Leu272=) NC_000011.10:92982038:C:T Identity +NM_001172668.2:c.1041G>A NP_001166139.1:p.Ala347= NC_000016.10:31061886:C:T p.(Ala347=) NC_000016.10:31061886:C:T p.(Ala347=) NC_000016.10:31061886:C:T Identity +NM_138295.5:c.2073G>A NP_612152.1:p.Arg691= NC_000007.14:47898185:C:T p.(Arg691=) NC_000007.14:47898185:C:T p.(Arg691=) NC_000007.14:47898185:C:T Identity +NM_001385060.1:c.1671T>C NP_001371989.1:p.Asp557= NC_000003.12:151448309:A:G p.(Asp557=) NC_000003.12:151448309:A:G p.(Asp557=) NC_000003.12:151448309:A:G Identity +NM_001375759.1:c.1830G>T NP_001362688.1:p.Thr610= NC_000007.14:100684057:C:A p.(Thr610=) NC_000007.14:100684057:C:A p.(Thr610=) NC_000007.14:100684057:C:A Identity +NM_001081.4:c.2349C>T NP_001072.2:p.Thr783= NC_000010.11:17071923:G:A p.(Thr783=) NC_000010.11:17071923:G:A p.(Thr783=) NC_000010.11:17071923:G:A Identity +NM_000412.5:c.1497A>G NP_000403.1:p.Ser499= NC_000003.12:186677801:A:G p.(Ser499=) NC_000003.12:186677801:A:G p.(Ser499=) NC_000003.12:186677801:A:G Identity +NM_033071.5:c.18189G>A NP_149062.2:p.Glu6063= NC_000006.12:152278259:C:T p.(Glu6063=) NC_000006.12:152278259:C:T p.(Glu6063=) NC_000006.12:152278259:C:T Identity +NM_001401501.2:c.37230C>T NP_001388430.1:p.Thr12410= NC_000019.10:8913812:G:A p.(Thr12410=) NC_000019.10:8913812:G:A p.(Thr12410=) NC_000019.10:8913812:G:A Identity +NM_005915.6:c.339A>T NP_005906.2:p.Ala113= NC_000002.12:135870276:T:A p.(Ala113=) NC_000002.12:135870276:T:A p.(Ala113=) NC_000002.12:135870276:T:A Identity +NM_182700.6:c.1254C>T NP_874359.2:p.Ser418= NC_000007.14:20784562:G:A p.(Ser418=) NC_000007.14:20784562:G:A p.(Ser418=) NC_000007.14:20784562:G:A Identity +NM_001164098.2:c.3675A>G NP_001157570.1:p.Pro1225= NC_000005.10:83521980:A:G p.(Pro1225=) NC_000005.10:83521980:A:G p.(Pro1225=) NC_000005.10:83521980:A:G Identity +NM_001080527.2:c.4116C>T NP_001073996.1:p.Leu1372= NC_000002.12:127625513:C:T p.(Leu1372=) NC_000002.12:127625513:C:T p.(Leu1372=) NC_000002.12:127625513:C:T Identity +NM_001130964.2:c.1707C>T NP_001124436.1:p.Ser569= NC_000003.12:38009120:G:A p.(Ser569=) NC_000003.12:38009120:G:A p.(Ser569=) NC_000003.12:38009120:G:A Identity +NM_001290184.2:c.1914C>A NP_001277113.1:p.Ala638= NC_000001.11:160357219:C:A p.(Ala638=) NC_000001.11:160357219:C:A p.(Ala638=) NC_000001.11:160357219:C:A Identity +NM_002207.3:c.3045C>T NP_002198.2:p.Ile1015= NC_000003.12:37818925:C:T p.(Ile1015=) NC_000003.12:37818925:C:T p.(Ile1015=) NC_000003.12:37818925:C:T Identity +NM_002718.5:c.1641C>T NP_002709.2:p.Thr547= NC_000003.12:136003138:C:T p.(Thr547=) NC_000003.12:136003138:C:T p.(Thr547=) NC_000003.12:136003138:C:T Identity +NM_002291.3:c.5250T>C NP_002282.2:p.Asn1750= NC_000007.14:107924061:A:G p.(Asn1750=) NC_000007.14:107924061:A:G p.(Asn1750=) NC_000007.14:107924061:A:G Identity +NM_001855.5:c.852C>G NP_001846.3:p.Ser284= NC_000009.12:98996980:C:G p.(Ser284=) NC_000009.12:98996980:C:G p.(Ser284=) NC_000009.12:98996980:C:G Identity +NM_001855.5:c.2484C>T NP_001846.3:p.Asp828= NC_000009.12:99040528:C:T p.(Asp828=) NC_000009.12:99040528:C:T p.(Asp828=) NC_000009.12:99040528:C:T Identity +NM_015409.5:c.8448G>A NP_056224.3:p.Ser2816= NC_000012.12:132064780:G:A p.(Ser2816=) NC_000012.12:132064780:G:A p.(Ser2816=) NC_000012.12:132064780:G:A Identity +NM_001251902.3:c.636C>T NP_001238831.1:p.Ala212= NC_000017.11:7384022:C:T p.(Ala212=) NC_000017.11:7384022:C:T p.(Ala212=) NC_000017.11:7384022:C:T Identity +NM_001297755.2:c.1227A>C NP_001284684.2:p.Thr409= NC_000004.12:83446050:T:G p.(Thr409=) NC_000004.12:83446050:T:G p.(Thr409=) NC_000004.12:83446050:T:G Identity +NM_001347701.2:c.957G>A NP_001334630.1:p.Arg319= NC_000006.12:152151651:C:T p.(Arg319=) NC_000006.12:152151651:C:T p.(Arg319=) NC_000006.12:152151651:C:T Identity +NM_004454.3:c.240T>G NP_004445.1:p.Leu80= NC_000003.12:186081167:A:C p.(Leu80=) NC_000003.12:186081167:A:C p.(Leu80=) NC_000003.12:186081167:A:C Identity +NM_001040439.2:c.645C>T NP_001035529.1:p.Asp215= NC_000016.10:1743376:C:T p.(Asp215=) NC_000016.10:1743376:C:T p.(Asp215=) NC_000016.10:1743376:C:T Identity +NM_001371097.1:c.153C>T NP_001358026.1:p.Ser51= NC_000012.12:20855095:C:T p.(Ser51=) NC_000012.12:20855095:C:T p.(Ser51=) NC_000012.12:20855095:C:T Identity +NM_001308210.2:c.726C>T NP_001295139.1:p.Gly242= NC_000018.10:75286132:C:T p.(Gly242=) NC_000018.10:75286132:C:T p.(Gly242=) NC_000018.10:75286132:C:T Identity +NM_001122957.4:c.1071C>T NP_001116429.1:p.Gly357= NC_000016.10:31112003:C:T p.(Gly357=) NC_000016.10:31112003:C:T p.(Gly357=) NC_000016.10:31112003:C:T Identity +NM_015073.3:c.3177G>A NP_055888.1:p.Ser1059= NC_000019.10:38141216:G:A p.(Ser1059=) NC_000019.10:38141216:G:A p.(Ser1059=) NC_000019.10:38141216:G:A Identity +NM_003742.4:c.3594T>C NP_003733.2:p.His1198= NC_000002.12:168927179:A:G p.(His1198=) NC_000002.12:168927179:A:G p.(His1198=) NC_000002.12:168927179:A:G Identity +NM_002332.3:c.7635C>T NP_002323.2:p.Asp2545= NC_000012.12:57193254:C:T p.(Asp2545=) NC_000012.12:57193254:C:T p.(Asp2545=) NC_000012.12:57193254:C:T Identity +NM_001001890.3:c.666T>A NP_001001890.1:p.Pro222= NC_000021.9:34834467:A:T p.(Pro222=) NC_000021.9:34834467:A:T p.(Pro222=) NC_000021.9:34834467:A:T Identity +NM_001284351.3:c.1245C>A NP_001271280.1:p.Arg415= NC_000005.10:482658:G:T p.(Arg415=) NC_000005.10:482658:G:T p.(Arg415=) NC_000005.10:482658:G:T Identity +NM_001362950.1:c.639A>G NP_001349879.1:p.Glu213= NC_000002.12:24691586:A:G p.(Glu213=) NC_000002.12:24691586:A:G p.(Glu213=) NC_000002.12:24691586:A:G Identity +NM_001005914.3:c.63G>A NP_001005914.1:p.Leu21= NC_000003.12:50269302:G:A p.(Leu21=) NC_000003.12:50269302:G:A p.(Leu21=) NC_000003.12:50269302:G:A Identity +NM_001320644.2:c.4773T>C NP_001307573.1:p.Asn1591= NC_000010.11:122618284:T:C p.(Asn1591=) NC_000010.11:122618284:T:C p.(Asn1591=) NC_000010.11:122618284:T:C Identity +NM_000531.6:c.78G>A NP_000522.3:p.Arg26= NC_000023.11:38367290:G:A p.(Arg26=) NC_000023.11:38367290:G:A p.(Arg26=) NC_000023.11:38367290:G:A Identity +NM_001173482.1:c.591A>G NP_001166953.1:p.Gln197= NC_000003.12:3167726:T:C p.(Gln197=) NC_000003.12:3167726:T:C p.(Gln197=) NC_000003.12:3167726:T:C Identity +NM_015073.3:c.3255C>T NP_055888.1:p.Ser1085= NC_000019.10:38141294:C:T p.(Ser1085=) NC_000019.10:38141294:C:T p.(Ser1085=) NC_000019.10:38141294:C:T Identity +NM_015368.4:c.765C>T NP_056183.2:p.Asn255= NC_000011.10:94179820:C:T p.(Asn255=) NC_000011.10:94179820:C:T p.(Asn255=) NC_000011.10:94179820:C:T Identity +NM_052947.4:c.946_951del NP_443179.3:p.Leu316_Thr317del NC_000018.10:58579824:GGTTAGGGTTA:GGTTA p.(Leu316_Thr317del) NC_000018.10:58579824:GGTTAGGGTTA:GGTTA p.(Leu316_Thr317del) NC_000018.10:58579824:GGTTAG: Identity +NM_021220.4:c.18G>A NP_067043.2:p.Leu6= NC_000020.11:18057616:C:T p.(Leu6=) NC_000020.11:18057616:C:T p.(Leu6=) NC_000020.11:18057616:C:T Identity +NM_001331010.2:c.4299C>A NP_001317939.1:p.Ala1433= NC_000021.9:33875493:C:A p.(Ala1433=) NC_000021.9:33875493:C:A p.(Ala1433=) NC_000021.9:33875493:C:A Identity +NM_001371194.2:c.2205C>T NP_001358123.1:p.Leu735= NC_000009.12:89379087:G:A p.(Leu735=) NC_000009.12:89379087:G:A p.(Leu735=) NC_000009.12:89379087:G:A Identity +NM_001330106.2:c.945G>A NP_001317035.1:p.Glu315= NC_000014.9:41887569:G:A p.(Glu315=) NC_000014.9:41887569:G:A p.(Glu315=) NC_000014.9:41887569:G:A Identity +NM_001365116.2:c.4260G>A NP_001352045.1:p.Thr1420= NC_000003.12:47001056:G:A p.(Thr1420=) NC_000003.12:47001056:G:A p.(Thr1420=) NC_000003.12:47001056:G:A Identity +NM_001850.5:c.750G>A NP_001841.2:p.Ala250= NC_000003.12:99794650:G:A p.(Ala250=) NC_000003.12:99794650:G:A p.(Ala250=) NC_000003.12:99794650:G:A Identity +NM_018714.3:c.2709A>G NP_061184.1:p.Pro903= NC_000017.11:73206796:A:G p.(Pro903=) NC_000017.11:73206796:A:G p.(Pro903=) NC_000017.11:73206796:A:G Identity +NM_015057.5:c.1542C>T NP_055872.4:p.Phe514= NC_000013.11:77263678:G:A p.(Phe514=) NC_000013.11:77263678:G:A p.(Phe514=) NC_000013.11:77263678:G:A Identity +NM_001127715.4:c.1080A>G NP_001121187.1:p.Gln360= NC_000006.12:147311461:A:G p.(Gln360=) NC_000006.12:147311461:A:G p.(Gln360=) NC_000006.12:147311461:A:G Identity +NM_006231.4:c.3750C>A NP_006222.2:p.Pro1250= NC_000012.12:132649721:G:T p.(Pro1250=) NC_000012.12:132649721:G:T p.(Pro1250=) NC_000012.12:132649721:G:T Identity +NM_001284214.2:c.4176G>A NP_001271143.1:p.Leu1392= NC_000002.12:229792023:C:T p.(Leu1392=) NC_000002.12:229792023:C:T p.(Leu1392=) NC_000002.12:229792023:C:T Identity +NM_001137601.3:c.879C>A NP_001131073.1:p.Leu293= NC_000014.9:104802075:C:A p.(Leu293=) NC_000014.9:104802075:C:A p.(Leu293=) NC_000014.9:104802075:C:A Identity +NM_001318391.2:c.1209C>T NP_001305320.1:p.Ala403= NC_000016.10:69160368:C:T p.(Ala403=) NC_000016.10:69160368:C:T p.(Ala403=) NC_000016.10:69160368:C:T Identity +NM_001165974.2:c.1953C>T NP_001159446.1:p.Asn651= NC_000003.12:126488214:G:A p.(Asn651=) NC_000003.12:126488214:G:A p.(Asn651=) NC_000003.12:126488214:G:A Identity +NM_001105543.2:c.693G>A NP_001099013.1:p.Ser231= NC_000007.14:132508000:C:T p.(Ser231=) NC_000007.14:132508000:C:T p.(Ser231=) NC_000007.14:132508000:C:T Identity +NM_001347.4:c.1884C>T NP_001338.2:p.Pro628= NC_000004.12:963140:G:A p.(Pro628=) NC_000004.12:963140:G:A p.(Pro628=) NC_000004.12:963140:G:A Identity +NM_001378152.1:c.465C>T NP_001365081.1:p.Phe155= NC_000023.11:47915110:C:T p.(Phe155=) NC_000023.11:47915110:C:T p.(Phe155=) NC_000023.11:47915110:C:T Identity +NM_001362843.2:c.2487A>G NP_001349772.1:p.Pro829= NC_000022.11:41149945:A:G p.(Pro829=) NC_000022.11:41149945:A:G p.(Pro829=) NC_000022.11:41149945:A:G Identity +NM_001256071.3:c.7656G>A NP_001243000.2:p.Thr2552= NC_000017.11:80345990:G:A p.(Thr2552=) NC_000017.11:80345990:G:A p.(Thr2552=) NC_000017.11:80345990:G:A Identity +NM_003954.5:c.816C>G NP_003945.2:p.Leu272= NC_000017.11:45286766:G:C p.(Leu272=) NC_000017.11:45286766:G:C p.(Leu272=) NC_000017.11:45286766:G:C Identity +NM_005045.4:c.3621G>A NP_005036.2:p.Glu1207= NC_000007.14:103594410:C:T p.(Glu1207=) NC_000007.14:103594410:C:T p.(Glu1207=) NC_000007.14:103594410:C:T Identity +NM_001040712.2:c.2308A>C NP_001035802.1:p.Arg770= NC_000009.12:8465629:T:G p.(Arg770=) NC_000009.12:8465629:T:G p.(Arg770=) NC_000009.12:8465629:T:G Identity +NM_000173.7:c.1116C>T NP_000164.5:p.Phe372= NC_000017.11:4933719:C:T p.(Phe372=) NC_000017.11:4933719:C:T p.(Phe372=) NC_000017.11:4933719:C:T Identity +NM_006295.3:c.222T>C NP_006286.1:p.Ala74= NC_000006.12:31794995:A:G p.(Ala74=) NC_000006.12:31794995:A:G p.(Ala74=) NC_000006.12:31794995:A:G Identity +NM_001145717.1:c.240C>T NP_001139189.2:p.Ala80= NC_000006.12:36291353:C:T p.(Ala80=) NC_000006.12:36291353:C:T p.(Ala80=) NC_000006.12:36291353:C:T Identity +NM_032242.4:c.2787C>T NP_115618.3:p.Ser929= NC_000003.12:127014740:C:T p.(Ser929=) NC_000003.12:127014740:C:T p.(Ser929=) NC_000003.12:127014740:C:T Identity +NM_002613.5:c.1653G>A NP_002604.1:p.Pro551= NC_000016.10:2597748:G:A p.(Pro551=) NC_000016.10:2597748:G:A p.(Pro551=) NC_000016.10:2597748:G:A Identity +NM_000296.4:c.12024G>A NP_000287.4:p.Val4008= NC_000016.10:2090784:C:T p.(Val4008=) NC_000016.10:2090784:C:T p.(Val4008=) NC_000016.10:2090784:C:T Identity +NM_001369397.2:c.105G>T NP_001356326.1:p.Pro35= NC_000017.11:48598045:C:A p.(Pro35=) NC_000017.11:48598045:C:A p.(Pro35=) NC_000017.11:48598045:C:A Identity +NM_001252338.2:c.48C>T NP_001239267.1:p.Cys16= NC_000020.11:61499481:C:T p.(Cys16=) NC_000020.11:61499481:C:T p.(Cys16=) NC_000020.11:61499481:C:T Identity +NM_003500.4:c.1587C>T NP_003491.1:p.His529= NC_000003.12:58522540:G:A p.(His529=) NC_000003.12:58522540:G:A p.(His529=) NC_000003.12:58522540:G:A Identity +NM_020719.3:c.3903G>A NP_065770.1:p.Ala1301= NC_000019.10:49599495:G:A p.(Ala1301=) NC_000019.10:49599495:G:A p.(Ala1301=) NC_000019.10:49599495:G:A Identity +NM_000545.8:c.1407C>T NP_000536.6:p.His469= NC_000012.12:120997570:C:T p.(His469=) NC_000012.12:120997570:C:T p.(His469=) NC_000012.12:120997570:C:T Identity +NM_001243270.2:c.1848C>T NP_001230199.1:p.Phe616= NC_000011.10:100193626:C:T p.(Phe616=) NC_000011.10:100193626:C:T p.(Phe616=) NC_000011.10:100193626:C:T Identity +NM_001370598.1:c.4005G>A NP_001357527.1:p.Ser1335= NC_000012.12:111348054:G:A p.(Ser1335=) NC_000012.12:111348054:G:A p.(Ser1335=) NC_000012.12:111348054:G:A Identity +NM_001996.4:c.1855C>T NP_001987.3:p.Leu619= NC_000022.11:45563068:C:T p.(Leu619=) NC_000022.11:45563068:C:T p.(Leu619=) NC_000022.11:45563068:C:T Identity +NM_005560.6:c.1992C>T NP_005551.3:p.Cys664= NC_000020.11:62337837:G:A p.(Cys664=) NC_000020.11:62337837:G:A p.(Cys664=) NC_000020.11:62337837:G:A Identity +NM_001098816.3:c.7110T>C NP_001092286.2:p.Phe2370= NC_000011.10:78669234:A:G p.(Phe2370=) NC_000011.10:78669234:A:G p.(Phe2370=) NC_000011.10:78669234:A:G Identity +NM_001029882.3:c.492G>A NP_001025053.1:p.Gln164= NC_000001.11:27551623:C:T p.(Gln164=) NC_000001.11:27551623:C:T p.(Gln164=) NC_000001.11:27551623:C:T Identity +NM_001394011.1:c.5208G>A NP_001380940.1:p.Ala1736= NC_000019.10:5210765:C:T p.(Ala1736=) NC_000019.10:5210765:C:T p.(Ala1736=) NC_000019.10:5210765:C:T Identity +NM_001384466.1:c.951G>A NP_001371395.1:p.Leu317= NC_000011.10:64117217:G:A p.(Leu317=) NC_000011.10:64117217:G:A p.(Leu317=) NC_000011.10:64117217:G:A Identity +NM_001142633.3:c.2361A>G NP_001136105.1:p.Lys787= NC_000017.11:8881650:T:C p.(Lys787=) NC_000017.11:8881650:T:C p.(Lys787=) NC_000017.11:8881650:T:C Identity +NM_001394024.1:c.2049C>T NP_001380953.1:p.Asp683= NC_000020.11:42315812:G:A p.(Asp683=) NC_000020.11:42315812:G:A p.(Asp683=) NC_000020.11:42315812:G:A Identity +NM_004446.3:c.591G>A NP_004437.2:p.Lys197= NC_000001.11:220030417:C:T p.(Lys197=) NC_000001.11:220030417:C:T p.(Lys197=) NC_000001.11:220030417:C:T Identity +NM_001306076.1:c.4316_4317insCCT NP_001293005.1:p.Lys1439delinsAsnLeu NC_000001.11:93270780::CCT p.(Lys1439delinsAsnLeu) NC_000001.11:93270779:A:CCT p.(Lys1439delinsAsnLeu) NC_000001.11:93270780:AG:CCT Identity +NM_003482.4:c.5904G>A NP_003473.3:p.Glu1968= NC_000012.12:49042293:C:T p.(Glu1968=) NC_000012.12:49042293:C:T p.(Glu1968=) NC_000012.12:49042293:C:T Identity +NM_001206999.2:c.18T>C NP_001193928.1:p.Tyr6= NC_000012.12:119876150:A:G p.(Tyr6=) NC_000012.12:119876150:A:G p.(Tyr6=) NC_000012.12:119876150:A:G Identity +NM_023077.3:c.447T>C NP_075565.2:p.Ser149= NC_000001.11:52687968:A:G p.(Ser149=) NC_000001.11:52687968:A:G p.(Ser149=) NC_000001.11:52687968:A:G Identity +NM_001286561.2:c.5898C>A NP_001273490.1:p.Gly1966= NC_000011.10:72004705:G:T p.(Gly1966=) NC_000011.10:72004705:G:T p.(Gly1966=) NC_000011.10:72004705:G:T Identity +NM_001163812.2:c.732C>T NP_001157284.1:p.Tyr244= NC_000010.11:100988941:C:T p.(Tyr244=) NC_000010.11:100988941:C:T p.(Tyr244=) NC_000010.11:100988941:C:T Identity +NM_001323332.2:c.177A>C NP_001310261.1:p.Pro59= NC_000020.11:3471283:A:C p.(Pro59=) NC_000020.11:3471283:A:C p.(Pro59=) NC_000020.11:3471283:A:C Identity +NM_019112.4:c.2589C>T NP_061985.2:p.Gly863= NC_000019.10:1050956:C:T p.(Gly863=) NC_000019.10:1050956:C:T p.(Gly863=) NC_000019.10:1050956:C:T Identity +NM_001350162.2:c.4569C>T NP_001337091.1:p.Ser1523= NC_000008.11:30845597:G:A p.(Ser1523=) NC_000008.11:30845597:G:A p.(Ser1523=) NC_000008.11:30845597:G:A Identity +NM_001253.4:c.1140A>G NP_001244.1:p.Lys380= NC_000006.12:44419495:A:G p.(Lys380=) NC_000006.12:44419495:A:G p.(Lys380=) NC_000006.12:44419495:A:G Identity +NM_001127208.3:c.4053T>C NP_001120680.1:p.Tyr1351= NC_000004.12:105269617:T:C p.(Tyr1351=) NC_000004.12:105269617:T:C p.(Tyr1351=) NC_000004.12:105269617:T:C Identity +NM_001164342.2:c.1188T>G NP_001157814.1:p.Pro396= NC_000003.12:114350889:A:C p.(Pro396=) NC_000003.12:114350889:A:C p.(Pro396=) NC_000003.12:114350889:A:C Identity +NM_001163940.2:c.2085A>G NP_001157412.1:p.Ala695= NC_000014.9:50908945:T:C p.(Ala695=) NC_000014.9:50908945:T:C p.(Ala695=) NC_000014.9:50908945:T:C Identity +NM_001003698.4:c.3201C>T NP_001003698.1:p.Ser1067= NC_000006.12:7231299:C:T p.(Ser1067=) NC_000006.12:7231299:C:T p.(Ser1067=) NC_000006.12:7231299:C:T Identity +NM_001286349.2:c.1752C>T NP_001273278.1:p.Tyr584= NC_000001.11:158094897:C:T p.(Tyr584=) NC_000001.11:158094897:C:T p.(Tyr584=) NC_000001.11:158094897:C:T Identity +NM_016188.5:c.546C>T NP_057272.1:p.Gly182= NC_000007.14:100648744:G:A p.(Gly182=) NC_000007.14:100648744:G:A p.(Gly182=) NC_000007.14:100648744:G:A Identity +NM_021035.3:c.3312G>A NP_066363.1:p.Lys1104= NC_000020.11:49251526:C:T p.(Lys1104=) NC_000020.11:49251526:C:T p.(Lys1104=) NC_000020.11:49251526:C:T Identity +NM_023004.6:c.1398G>A NP_075380.1:p.Leu466= NC_000022.11:20241734:C:T p.(Leu466=) NC_000022.11:20241734:C:T p.(Leu466=) NC_000022.11:20241734:C:T Identity +NM_015721.3:c.1227C>T NP_056536.2:p.Ala409= NC_000017.11:746815:G:A p.(Ala409=) NC_000017.11:746815:G:A p.(Ala409=) NC_000017.11:746815:G:A Identity +NM_001282512.3:c.597A>G NP_001269441.1:p.Glu199= NC_000022.11:19911441:T:C p.(Glu199=) NC_000022.11:19911441:T:C p.(Glu199=) NC_000022.11:19911441:T:C Identity +NM_015001.3:c.5103C>T NP_055816.2:p.Asp1701= NC_000001.11:15931342:C:T p.(Asp1701=) NC_000001.11:15931342:C:T p.(Asp1701=) NC_000001.11:15931342:C:T Identity +NM_144666.3:c.14261G>A NP_653267.2:p.Ter4754= NC_000011.10:6571984:G:A p.(Ter4754=) NC_000011.10:6571984:G:A p.(Ter4754Ter) NC_000011.10:6571984:G:A Identity +NM_001184741.1:c.873C>T NP_001171670.1:p.Asp291= NC_000004.12:154569604:C:T p.(Asp291=) NC_000004.12:154569604:C:T p.(Asp291=) NC_000004.12:154569604:C:T Identity +NM_005560.6:c.9144G>A NP_005551.3:p.Val3048= NC_000020.11:62312714:C:T p.(Val3048=) NC_000020.11:62312714:C:T p.(Val3048=) NC_000020.11:62312714:C:T Identity +NM_001229.5:c.660G>A NP_001220.2:p.Ala220= NC_000001.11:15506049:C:T p.(Ala220=) NC_000001.11:15506049:C:T p.(Ala220=) NC_000001.11:15506049:C:T Identity +NM_001080472.4:c.750C>T NP_001073941.1:p.Ser250= NC_000020.11:44306663:G:A p.(Ser250=) NC_000020.11:44306663:G:A p.(Ser250=) NC_000020.11:44306663:G:A Identity +NM_001290020.2:c.1173C>T NP_001276949.1:p.Asp391= NC_000010.11:27968987:G:A p.(Asp391=) NC_000010.11:27968987:G:A p.(Asp391=) NC_000010.11:27968987:G:A Identity +NM_021957.4:c.1320G>A NP_068776.2:p.Leu440= NC_000012.12:21558301:C:T p.(Leu440=) NC_000012.12:21558301:C:T p.(Leu440=) NC_000012.12:21558301:C:T Identity +NM_001079872.2:c.1182A>G NP_001073341.1:p.Glu394= NC_000023.11:120543800:T:C p.(Glu394=) NC_000023.11:120543800:T:C p.(Glu394=) NC_000023.11:120543800:T:C Identity +NM_001394011.1:c.5190G>A NP_001380940.1:p.Ala1730= NC_000019.10:5210783:C:T p.(Ala1730=) NC_000019.10:5210783:C:T p.(Ala1730=) NC_000019.10:5210783:C:T Identity +NM_012205.3:c.576G>A NP_036337.2:p.Arg192= NC_000002.12:42769766:C:T p.(Arg192=) NC_000002.12:42769766:C:T p.(Arg192=) NC_000002.12:42769766:C:T Identity +NM_033225.6:c.885C>T NP_150094.5:p.Thr295= NC_000008.11:3753975:G:A p.(Thr295=) NC_000008.11:3753975:G:A p.(Thr295=) NC_000008.11:3753975:G:A Identity +NM_020877.5:c.11244C>T NP_065928.2:p.His3748= NC_000017.11:7823542:C:T p.(His3748=) NC_000017.11:7823542:C:T p.(His3748=) NC_000017.11:7823542:C:T Identity +NM_005632.3:c.2298C>T NP_005623.1:p.His766= NC_000016.10:551616:C:T p.(His766=) NC_000016.10:551616:C:T p.(His766=) NC_000016.10:551616:C:T Identity +NM_020713.3:c.2112C>T NP_065764.1:p.Arg704= NC_000020.11:63962637:G:A p.(Arg704=) NC_000020.11:63962637:G:A p.(Arg704=) NC_000020.11:63962637:G:A Identity +NM_001100412.2:c.2478A>G NP_001093882.1:p.Leu826= NC_000005.10:31451625:T:C p.(Leu826=) NC_000005.10:31451625:T:C p.(Leu826=) NC_000005.10:31451625:T:C Identity +NM_001134453.3:c.1246T>C NP_001127925.1:p.Leu416= NC_000018.10:31399511:T:C p.(Leu416=) NC_000018.10:31399511:T:C p.(Leu416=) NC_000018.10:31399511:T:C Identity +NM_032271.3:c.462C>T NP_115647.2:p.Cys154= NC_000016.10:2171591:C:T p.(Cys154=) NC_000016.10:2171591:C:T p.(Cys154=) NC_000016.10:2171591:C:T Identity +NM_007274.4:c.384G>A NP_009205.3:p.Val128= NC_000001.11:6339466:C:T p.(Val128=) NC_000001.11:6339466:C:T p.(Val128=) NC_000001.11:6339466:C:T Identity +NM_001384900.1:c.2040T>A NP_001371829.1:p.Thr680= NC_000007.14:84999733:A:T p.(Thr680=) NC_000007.14:84999733:A:T p.(Thr680=) NC_000007.14:84999733:A:T Identity +NM_001354635.2:c.321C>T NP_001341564.1:p.Phe107= NC_000008.11:9016377:C:T p.(Phe107=) NC_000008.11:9016377:C:T p.(Phe107=) NC_000008.11:9016377:C:T Identity +NM_001130414.1:c.2076C>T NP_001123886.1:p.Asn692= NC_000015.10:29113949:C:T p.(Asn692=) NC_000015.10:29113949:C:T p.(Asn692=) NC_000015.10:29113949:C:T Identity +NM_001113178.3:c.39A>C NP_001106649.1:p.Leu13= NC_000016.10:69566339:A:C p.(Leu13=) NC_000016.10:69566339:A:C p.(Leu13=) NC_000016.10:69566339:A:C Identity +NM_006236.3:c.1473T>A NP_006227.1:p.Pro491= NC_000002.12:104856982:T:A p.(Pro491=) NC_000002.12:104856982:T:A p.(Pro491=) NC_000002.12:104856982:T:A Identity +NM_032242.4:c.2484C>T NP_115618.3:p.Cys828= NC_000003.12:127014254:C:T p.(Cys828=) NC_000003.12:127014254:C:T p.(Cys828=) NC_000003.12:127014254:C:T Identity +NM_001270616.2:c.912A>C NP_001257545.1:p.Pro304= NC_000001.11:213997446:A:C p.(Pro304=) NC_000001.11:213997446:A:C p.(Pro304=) NC_000001.11:213997446:A:C Identity +NM_001025087.2:c.834C>T NP_001020258.1:p.Val278= NC_000018.10:37273127:G:A p.(Val278=) NC_000018.10:37273127:G:A p.(Val278=) NC_000018.10:37273127:G:A Identity +NM_001256789.3:c.198G>A NP_001243718.1:p.Gln66= NC_000023.11:49231754:C:T p.(Gln66=) NC_000023.11:49231754:C:T p.(Gln66=) NC_000023.11:49231754:C:T Identity +NM_001012957.2:c.42C>T NP_001012975.1:p.Gly14= NC_000001.11:231626908:C:T p.(Gly14=) NC_000001.11:231626908:C:T p.(Gly14=) NC_000001.11:231626908:C:T Identity +NM_001079872.2:c.1674A>G NP_001073341.1:p.Lys558= NC_000023.11:120539334:T:C p.(Lys558=) NC_000023.11:120539334:T:C p.(Lys558=) NC_000023.11:120539334:T:C Identity +NM_001277058.2:c.2247G>T NP_001263987.1:p.Gly749= NC_000010.11:49516271:C:A p.(Gly749=) NC_000010.11:49516271:C:A p.(Gly749=) NC_000010.11:49516271:C:A Identity +NM_001257999.3:c.2412A>G NP_001244928.1:p.Glu804= NC_000017.11:4179831:T:C p.(Glu804=) NC_000017.11:4179831:T:C p.(Glu804=) NC_000017.11:4179831:T:C Identity +NM_176819.4:c.1020C>T NP_789789.2:p.Ser340= NC_000023.11:45151933:G:A p.(Ser340=) NC_000023.11:45151933:G:A p.(Ser340=) NC_000023.11:45151933:G:A Identity +NM_001375759.1:c.2004C>T NP_001362688.1:p.Asn668= NC_000007.14:100683597:G:A p.(Asn668=) NC_000007.14:100683597:G:A p.(Asn668=) NC_000007.14:100683597:G:A Identity +NM_000515.5:c.516C>T NP_000506.2:p.Phe172= NC_000017.11:63917446:G:A p.(Phe172=) NC_000017.11:63917446:G:A p.(Phe172=) NC_000017.11:63917446:G:A Identity +NM_001032394.3:c.3030C>A NP_001027566.2:p.Ala1010= NC_000006.12:142419898:C:A p.(Ala1010=) NC_000006.12:142419898:C:A p.(Ala1010=) NC_000006.12:142419898:C:A Identity +NM_015089.4:c.3468C>T NP_055904.1:p.Leu1156= NC_000006.12:43200518:C:T p.(Leu1156=) NC_000006.12:43200518:C:T p.(Leu1156=) NC_000006.12:43200518:C:T Identity +NM_014023.4:c.1383A>G NP_054742.2:p.Ala461= NC_000010.11:1129241:A:G p.(Ala461=) NC_000010.11:1129241:A:G p.(Ala461=) NC_000010.11:1129241:A:G Identity +NM_001145795.2:c.1761C>T NP_001139267.1:p.Cys587= NC_000016.10:28872568:C:T p.(Cys587=) NC_000016.10:28872568:C:T p.(Cys587=) NC_000016.10:28872568:C:T Identity +NM_001098623.2:c.22128G>A NP_001092093.2:p.Ala7376= NC_000001.11:228372905:G:A p.(Ala7376=) NC_000001.11:228372905:G:A p.(Ala7376=) NC_000001.11:228372905:G:A Identity +NM_001363185.1:c.7713T>C NP_001350114.1:p.Ile2571= NC_000008.11:112301919:A:G p.(Ile2571=) NC_000008.11:112301919:A:G p.(Ile2571=) NC_000008.11:112301919:A:G Identity +NM_001256850.1:c.99915G>A NP_001243779.1:p.Leu33305= NC_000002.12:178531776:C:T p.(Leu33305=) NC_000002.12:178531776:C:T p.(Leu33305=) NC_000002.12:178531776:C:T Identity +NM_001145844.1:c.279A>C NP_001139316.1:p.Ile93= NC_000003.12:78938703:T:G ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_005630.3:c.1278C>T NP_005621.2:p.Ala426= NC_000003.12:133947272:G:A p.(Ala426=) NC_000003.12:133947272:G:A p.(Ala426=) NC_000003.12:133947272:G:A Identity +NM_001008781.3:c.9957A>G NP_001008781.2:p.Pro3319= NC_000011.10:92834954:A:G p.(Pro3319=) NC_000011.10:92834954:A:G p.(Pro3319=) NC_000011.10:92834954:A:G Identity +NM_016148.5:c.4899C>T NP_057232.2:p.Thr1633= NC_000019.10:50667060:G:A p.(Thr1633=) NC_000019.10:50667060:G:A p.(Thr1633=) NC_000019.10:50667060:G:A Identity +NM_147130.3:c.605G>A NP_667341.1:p.Ter202= NC_000006.12:31589067:C:T p.(Ter202=) NC_000006.12:31589067:C:T p.(Ter202Ter) NC_000006.12:31589067:C:T Identity +NM_001410934.1:c.1413T>C NP_001397863.1:p.Asp471= NC_000008.11:76705500:T:C p.(Asp471=) NC_000008.11:76705500:T:C p.(Asp471=) NC_000008.11:76705500:T:C Identity +NM_212535.3:c.1890C>T NP_997700.1:p.Phe630= NC_000016.10:24219986:C:T p.(Phe630=) NC_000016.10:24219986:C:T p.(Phe630=) NC_000016.10:24219986:C:T Identity +NM_001410934.1:c.9055C>A NP_001397863.1:p.Arg3019= NC_000008.11:76856053:C:A p.(Arg3019=) NC_000008.11:76856053:C:A p.(Arg3019=) NC_000008.11:76856053:C:A Identity +NM_001198838.2:c.2487CGGCCC[2] NP_001185767.1:p.826GP[5] NC_000020.11:35652818:GGGCCGGGGCCGGGGCCGGGGCC:GGGCCGGGGCCGGGGCC p.(Gly836_Pro837del) NC_000020.11:35652835:G:GGGCCGGGGCCG ERR:Parse ERR:Parse Analogous +NM_001386735.1:c.216C>G NP_001373664.1:p.Ser72= NC_000016.10:72959929:G:C p.(Ser72=) NC_000016.10:72959929:G:C p.(Ser72=) NC_000016.10:72959929:G:C Identity +NM_001143996.2:c.111G>A NP_001137468.1:p.Pro37= NC_000010.11:49758481:C:T p.(Pro37=) NC_000010.11:49758481:C:T p.(Pro37=) NC_000010.11:49758481:C:T Identity +NM_001301025.3:c.4743A>G NP_001287954.2:p.Pro1581= NC_000015.10:29708944:T:C p.(Pro1581=) NC_000015.10:29708944:T:C p.(Pro1581=) NC_000015.10:29708944:T:C Identity +NM_138736.3:c.903G>A NP_620073.2:p.Val301= NC_000016.10:56343787:G:A p.(Val301=) NC_000016.10:56343787:G:A p.(Val301=) NC_000016.10:56343787:G:A Identity +NM_001291494.2:c.21C>G NP_001278423.1:p.Arg7= NC_000010.11:15719750:G:C p.(Arg7=) NC_000010.11:15719750:G:C p.(Arg7=) NC_000010.11:15719750:G:C Identity +NM_206996.4:c.2166G>A NP_996879.1:p.Glu722= NC_000001.11:118081143:C:T p.(Glu722=) NC_000001.11:118081143:C:T p.(Glu722=) NC_000001.11:118081143:C:T Identity +NM_001314033.3:c.1524C>A NP_001300962.1:p.Thr508= NC_000019.10:42225926:C:A p.(Thr508=) NC_000019.10:42225926:C:A p.(Thr508=) NC_000019.10:42225926:C:A Identity +NM_001278623.1:c.93C>T NP_001265552.1:p.Arg31= NC_000004.12:47914110:G:A p.(Arg31=) NC_000004.12:47914110:G:A p.(Arg31=) NC_000004.12:47914110:G:A Identity +NM_001302643.2:c.528C>T NP_001289572.2:p.Gly176= NC_000020.11:62962671:C:T p.(Gly176=) NC_000020.11:62962671:C:T p.(Gly176=) NC_000020.11:62962671:C:T Identity +NM_002039.4:c.582C>T NP_002030.2:p.Pro194= NC_000004.12:143433704:C:T p.(Pro194=) NC_000004.12:143433704:C:T p.(Pro194=) NC_000004.12:143433704:C:T Identity +NM_020699.4:c.852T>G NP_065750.1:p.Leu284= NC_000001.11:153817419:A:C p.(Leu284=) NC_000001.11:153817419:A:C p.(Leu284=) NC_000001.11:153817419:A:C Identity +NM_001290787.2:c.1848C>T NP_001277716.1:p.Tyr616= NC_000002.12:232481791:G:A p.(Tyr616=) NC_000002.12:232481791:G:A p.(Tyr616=) NC_000002.12:232481791:G:A Identity +NM_001098.3:c.1497G>A NP_001089.1:p.Leu499= NC_000022.11:41524859:G:A p.(Leu499=) NC_000022.11:41524859:G:A p.(Leu499=) NC_000022.11:41524859:G:A Identity +NM_133462.4:c.2034T>C NP_597719.1:p.Ser678= NC_000003.12:180610262:T:C p.(Ser678=) NC_000003.12:180610262:T:C p.(Ser678=) NC_000003.12:180610262:T:C Identity +NM_015356.5:c.4428G>A NP_056171.3:p.Pro1476= NC_000008.11:143792305:C:T p.(Pro1476=) NC_000008.11:143792305:C:T p.(Pro1476=) NC_000008.11:143792305:C:T Identity +NM_001363260.1:c.150G>A NP_001350189.1:p.Thr50= NC_000008.11:95269039:C:T p.(Thr50=) NC_000008.11:95269039:C:T p.(Thr50=) NC_000008.11:95269039:C:T Identity +NM_001286431.2:c.192C>T NP_001273360.1:p.Ser64= NC_000006.12:111405608:G:A p.(Ser64=) NC_000006.12:111405608:G:A p.(Ser64=) NC_000006.12:111405608:G:A Identity +NM_032546.4:c.879T>C NP_115935.3:p.Arg293= NC_000002.12:27305726:T:C p.(Arg293=) NC_000002.12:27305726:T:C p.(Arg293=) NC_000002.12:27305726:T:C Identity +NM_000573.4:c.4746C>T NP_000564.2:p.Pro1582= NC_000001.11:207609488:C:T ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001378328.1:c.1986C>T NP_001365257.1:p.His662= NC_000022.11:46535184:G:A p.(His662=) NC_000022.11:46535184:G:A p.(His662=) NC_000022.11:46535184:G:A Identity +NM_001394062.1:c.21735C>T NP_001380991.1:p.Ile7245= NC_000001.11:39463667:C:T p.(Ile7245=) NC_000001.11:39463667:C:T p.(Ile7245=) NC_000001.11:39463667:C:T Identity +NM_004646.4:c.1206G>C NP_004637.1:p.Leu402= NC_000019.10:35848361:C:G p.(Leu402=) NC_000019.10:35848361:C:G p.(Leu402=) NC_000019.10:35848361:C:G Identity +NM_006755.2:c.696T>C NP_006746.1:p.Ile232= NC_000011.10:763804:T:C p.(Ile232=) NC_000011.10:763804:T:C p.(Ile232=) NC_000011.10:763804:T:C Identity +NM_001193270.2:c.774G>A NP_001180199.1:p.Pro258= NC_000023.11:11763839:G:A p.(Pro258=) NC_000023.11:11763839:G:A p.(Pro258=) NC_000023.11:11763839:G:A Identity +NM_014516.4:c.1935G>A NP_055331.1:p.Thr645= NC_000019.10:54152896:G:A p.(Thr645=) NC_000019.10:54152896:G:A p.(Thr645=) NC_000019.10:54152896:G:A Identity +NM_004625.4:c.891G>A NP_004616.2:p.Thr297= NC_000003.12:13819102:C:T p.(Thr297=) NC_000003.12:13819102:C:T p.(Thr297=) NC_000003.12:13819102:C:T Identity +NM_001145311.2:c.1206G>A NP_001138783.1:p.Val402= NC_000015.10:89666938:C:T p.(Val402=) NC_000015.10:89666938:C:T p.(Val402=) NC_000015.10:89666938:C:T Identity +NM_000068.4:c.6714G>T NP_000059.3:p.Arg2238= NC_000019.10:13208839:C:A p.(Arg2238=) NC_000019.10:13208839:C:A p.(Arg2238=) NC_000019.10:13208839:C:A Identity +NM_000215.4:c.2454G>A NP_000206.2:p.Glu818= NC_000019.10:17832825:C:T p.(Glu818=) NC_000019.10:17832825:C:T p.(Glu818=) NC_000019.10:17832825:C:T Identity +NM_014704.4:c.2610G>A NP_055519.1:p.Thr870= NC_000001.11:3816331:C:T p.(Thr870=) NC_000001.11:3816331:C:T p.(Thr870=) NC_000001.11:3816331:C:T Identity +NM_001375759.1:c.1808AGC[8] NP_001362688.1:p.Gln608_Leu609insGlnGln NC_000007.14:100684062:GCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTG p.(Gln607_Gln608dup) NC_000007.14:100684079:T:GCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Analogous +NM_001024858.4:c.1092T>C NP_001020029.1:p.Val364= NC_000014.9:64797818:A:G p.(Val364=) NC_000014.9:64797818:A:G p.(Val364=) NC_000014.9:64797818:A:G Identity +NM_001069.3:c.141C>T NP_001060.1:p.Ile47= NC_000006.12:3156068:G:A p.(Ile47=) NC_000006.12:3156068:G:A p.(Ile47=) NC_000006.12:3156068:G:A Identity +NM_001996.4:c.1080C>T NP_001987.3:p.Cys360= NC_000022.11:45542167:C:T p.(Cys360=) NC_000022.11:45542167:C:T p.(Cys360=) NC_000022.11:45542167:C:T Identity +NM_001024858.4:c.2973C>T NP_001020029.1:p.Ile991= NC_000014.9:64786991:G:A p.(Ile991=) NC_000014.9:64786991:G:A p.(Ile991=) NC_000014.9:64786991:G:A Identity +NM_001040712.2:c.144G>A NP_001035802.1:p.Thr48= NC_000009.12:8636764:C:T p.(Thr48=) NC_000009.12:8636764:C:T p.(Thr48=) NC_000009.12:8636764:C:T Identity +NM_001363602.2:c.468A>C NP_001350531.1:p.Gly156= NC_000019.10:1393253:A:C p.(Gly156=) NC_000019.10:1393253:A:C p.(Gly156=) NC_000019.10:1393253:A:C Identity +NM_001288727.2:c.2862C>T NP_001275656.1:p.Ala954= NC_000010.11:102141369:C:T p.(Ala954=) NC_000010.11:102141369:C:T p.(Ala954=) NC_000010.11:102141369:C:T Identity +NM_000340.2:c.30G>A NP_000331.1:p.Leu10= NC_000003.12:171018608:C:T p.(Leu10=) NC_000003.12:171018608:C:T p.(Leu10=) NC_000003.12:171018608:C:T Identity +NM_005555.4:c.462C>T NP_005546.2:p.Pro154= NC_000012.12:52451616:G:A p.(Pro154=) NC_000012.12:52451616:G:A p.(Pro154=) NC_000012.12:52451616:G:A Identity +NM_001271933.2:c.2289A>G NP_001258862.1:p.Lys763= NC_000011.10:117391211:A:G p.(Lys763=) NC_000011.10:117391211:A:G p.(Lys763=) NC_000011.10:117391211:A:G Identity +NM_005544.3:c.2039GCA[5] NP_005535.1:p.Ser685_Ser686del NC_000002.12:226796679:TGCTGCTGCTGCTGCTGCTGCTG:TGCTGCTGCTGCTGCTG p.(Ser685_Ser686del) NC_000002.12:226796699:C:TGCTGCTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_001083900.1:c.9477C>T NP_001077369.1:p.Pro3159= NC_000012.12:123909275:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001033576.2:c.2535C>G NP_001028748.1:p.Thr845= NC_000017.11:35186303:C:G p.(Thr845=) NC_000017.11:35186303:C:G p.(Thr845=) NC_000017.11:35186303:C:G Identity +NM_001025108.2:c.1764G>A NP_001020279.1:p.Pro588= NC_000002.12:99593971:C:T p.(Pro588=) NC_000002.12:99593971:C:T p.(Pro588=) NC_000002.12:99593971:C:T Identity +NM_033400.3:c.5565C>G NP_207646.2:p.Pro1855= NC_000014.9:23524376:G:C p.(Pro1855=) NC_000014.9:23524376:G:C p.(Pro1855=) NC_000014.9:23524376:G:C Identity +NM_017680.6:c.727T>C NP_060150.4:p.Leu243= NC_000009.12:92460549:A:G p.(Leu243=) NC_000009.12:92460552:A:G p.(Leu243=) NC_000009.12:92460552:A:G Identity +NM_005632.3:c.3231C>T NP_005623.1:p.Val1077= NC_000016.10:553485:C:T p.(Val1077=) NC_000016.10:553485:C:T p.(Val1077=) NC_000016.10:553485:C:T Identity +NM_000189.5:c.465G>A NP_000180.2:p.Ser155= NC_000002.12:74872388:G:A p.(Ser155=) NC_000002.12:74872388:G:A p.(Ser155=) NC_000002.12:74872388:G:A Identity +NM_002224.4:c.5913C>T NP_002215.2:p.Thr1971= NC_000006.12:33686452:C:T p.(Thr1971=) NC_000006.12:33686452:C:T p.(Thr1971=) NC_000006.12:33686452:C:T Identity +NM_001322500.2:c.2649T>C NP_001309429.1:p.Ser883= NC_000003.12:41705290:A:G p.(Ser883=) NC_000003.12:41705290:A:G p.(Ser883=) NC_000003.12:41705290:A:G Identity +NM_001005463.3:c.1308C>T NP_001005463.1:p.Ala436= NC_000010.11:129842152:G:A p.(Ala436=) NC_000010.11:129842152:G:A p.(Ala436=) NC_000010.11:129842152:G:A Identity +NM_001378454.1:c.4725G>A NP_001365383.1:p.Glu1575= NC_000002.12:73451251:G:A p.(Glu1575=) NC_000002.12:73451251:G:A p.(Glu1575=) NC_000002.12:73451251:G:A Identity +NM_033058.3:c.553C>A NP_149047.2:p.Arg185= NC_000008.11:66137139:C:A p.(Arg185=) NC_000008.11:66137139:C:A p.(Arg185=) NC_000008.11:66137139:C:A Identity +NM_001040712.2:c.741C>T NP_001035802.1:p.Gly247= NC_000009.12:8521487:G:A p.(Gly247=) NC_000009.12:8521487:G:A p.(Gly247=) NC_000009.12:8521487:G:A Identity +NM_001307985.2:c.549G>A NP_001294914.1:p.Ala183= NC_000011.10:64562054:G:A p.(Ala183=) NC_000011.10:64562054:G:A p.(Ala183=) NC_000011.10:64562054:G:A Identity +NM_019888.3:c.96C>T NP_063941.3:p.Ser32= NC_000020.11:56248938:C:T p.(Ser32=) NC_000020.11:56248938:C:T p.(Ser32=) NC_000020.11:56248938:C:T Identity +NM_001005271.3:c.5316T>C NP_001005271.2:p.Asp1772= NC_000017.11:7908005:T:C p.(Asp1772=) NC_000017.11:7908005:T:C p.(Asp1772=) NC_000017.11:7908005:T:C Identity +NM_018012.4:c.1848G>A NP_060482.2:p.Thr616= NC_000001.11:245609461:G:A p.(Thr616=) NC_000001.11:245609461:G:A p.(Thr616=) NC_000001.11:245609461:G:A Identity +NM_001112726.3:c.1632G>A NP_001106197.1:p.Pro544= NC_000014.9:104884410:G:A p.(Pro544=) NC_000014.9:104884410:G:A p.(Pro544=) NC_000014.9:104884410:G:A Identity +NM_001070.5:c.150C>T NP_001061.2:p.Val50= NC_000017.11:42610207:C:T p.(Val50=) NC_000017.11:42610207:C:T p.(Val50=) NC_000017.11:42610207:C:T Identity +NM_001142633.3:c.18G>A NP_001136105.1:p.Thr6= NC_000017.11:8911476:C:T p.(Thr6=) NC_000017.11:8911476:C:T p.(Thr6=) NC_000017.11:8911476:C:T Identity +NM_024857.5:c.5034T>C NP_079133.3:p.Ser1678= NC_000017.11:30893886:T:C p.(Ser1678=) NC_000017.11:30893886:T:C p.(Ser1678=) NC_000017.11:30893886:T:C Identity +NM_133448.3:c.894C>T NP_597705.2:p.Thr298= NC_000012.12:129699883:G:A p.(Thr298=) NC_000012.12:129699883:G:A p.(Thr298=) NC_000012.12:129699883:G:A Identity +NM_001317122.2:c.465G>A NP_001304051.1:p.Glu155= NC_000001.11:35893230:G:A p.(Glu155=) NC_000001.11:35893230:G:A p.? NC_000001.11:35893230:G:A Identity +NM_000243.3:c.258C>T NP_000234.1:p.Leu86= NC_000016.10:3256329:G:A p.(Leu86=) NC_000016.10:3256329:G:A p.(Leu86=) NC_000016.10:3256329:G:A Identity +NM_001166159.2:c.472T>C NP_001159631.1:p.Leu158= NC_000001.11:161209270:T:C p.(Leu158=) NC_000001.11:161209270:T:C p.(Leu158=) NC_000001.11:161209270:T:C Identity +NM_015168.2:c.3834C>T NP_055983.1:p.Arg1278= NC_000019.10:47066433:G:A p.(Arg1278=) NC_000019.10:47066433:G:A p.(Arg1278=) NC_000019.10:47066433:G:A Identity +NM_001393897.1:c.1938C>T NP_001380826.1:p.Phe646= NC_000007.14:132226204:G:A p.(Phe646=) NC_000007.14:132226204:G:A p.(Phe646=) NC_000007.14:132226204:G:A Identity +NM_199235.3:c.147C>T NP_954705.1:p.Ile49= NC_000002.12:3626045:C:T p.(Ile49=) NC_000002.12:3626045:C:T p.(Ile49=) NC_000002.12:3626045:C:T Identity +NM_001080449.3:c.570A>T NP_001073918.2:p.Ile190= NC_000010.11:68465683:T:A p.(Ile190=) NC_000010.11:68465683:T:A p.(Ile190=) NC_000010.11:68465683:T:A Identity +NM_005245.4:c.6903T>C NP_005236.2:p.Ser2301= NC_000004.12:186619682:A:G p.(Ser2301=) NC_000004.12:186619682:A:G p.(Ser2301=) NC_000004.12:186619682:A:G Identity +NM_001193537.3:c.588T>C NP_001180466.1:p.Tyr196= NC_000011.10:85636183:T:C p.(Tyr196=) NC_000011.10:85636183:T:C p.(Tyr196=) NC_000011.10:85636183:T:C Identity +NM_005932.4:c.1923C>G NP_005923.3:p.Val641= NC_000013.11:23760142:G:C p.(Val641=) NC_000013.11:23760142:G:C p.(Val641=) NC_000013.11:23760142:G:C Identity +NM_006950.3:c.1707C>T NP_008881.2:p.Val569= NC_000023.11:47574276:G:A p.(Val569=) NC_000023.11:47574276:G:A p.(Val569=) NC_000023.11:47574276:G:A Identity +NM_006324.3:c.270A>G NP_006315.1:p.Glu90= NC_000016.10:75412666:T:C p.(Glu90=) NC_000016.10:75412666:T:C p.(Glu90=) NC_000016.10:75412666:T:C Identity +NM_012293.3:c.2919C>T NP_036425.1:p.Ala973= NC_000002.12:1648860:G:A p.(Ala973=) NC_000002.12:1648860:G:A p.(Ala973=) NC_000002.12:1648860:G:A Identity +NM_032242.4:c.2052C>T NP_115618.3:p.His684= NC_000003.12:127007852:C:T p.(His684=) NC_000003.12:127007852:C:T p.(His684=) NC_000003.12:127007852:C:T Identity +NM_003487.4:c.1419_1463del NP_003478.1:p.475GYGGDRGGYGGDRGG[1] NC_000017.11:35844706:GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGTGGCTATGGAGGAGACCGAGG:GGCTATGGAGGAGACCGAGG p.(Gly490_Gly504del) NC_000017.11:35844706:GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGTGGCTATGGAGGAGACCGAGG:GGCTATGGAGGAGACCGAGG p.(Gly490_Gly504del) NC_000017.11:35844726:AGGTGGCTATGGAGGAGATCGAGGTGGCTATGGAGGAGACCGAGG: Analogous +NM_001204813.2:c.1353G>A NP_001191742.1:p.Leu451= NC_000006.12:85492118:G:A p.(Leu451=) NC_000006.12:85492118:G:A p.(Leu451=) NC_000006.12:85492118:G:A Identity +NM_002608.4:c.468C>A NP_002599.1:p.Ile156= NC_000022.11:39230216:G:T p.(Ile156=) NC_000022.11:39230216:G:T p.(Ile156=) NC_000022.11:39230216:G:T Identity +NM_006080.3:c.1353C>T NP_006071.1:p.Ile451= NC_000007.14:84005345:G:A p.(Ile451=) NC_000007.14:84005345:G:A p.(Ile451=) NC_000007.14:84005345:G:A Identity +NM_001384125.1:c.5076G>A NP_001371054.1:p.Glu1692= NC_000004.12:122246189:G:A p.(Glu1692=) NC_000004.12:122246189:G:A p.(Glu1692=) NC_000004.12:122246189:G:A Identity +NM_001171162.1:c.3099C>T NP_001164633.1:p.Ser1033= NC_000023.11:71244446:G:A p.(Ser1033=) NC_000023.11:71244446:G:A p.(Ser1033=) NC_000023.11:71244446:G:A Identity +NM_198578.4:c.2076A>C NP_940980.4:p.Leu692= NC_000012.12:40278095:A:C p.(Leu692=) NC_000012.12:40278095:A:C p.(Leu692=) NC_000012.12:40278095:A:C Identity +NM_144508.5:c.2412A>G NP_653091.3:p.Lys804= NC_000015.10:40622675:A:G p.(Lys804=) NC_000015.10:40622675:A:G p.(Lys804=) NC_000015.10:40622675:A:G Identity +NM_001024858.4:c.4812G>A NP_001020029.1:p.Glu1604= NC_000014.9:64775154:C:T p.(Glu1604=) NC_000014.9:64775154:C:T p.(Glu1604=) NC_000014.9:64775154:C:T Identity +NM_001256182.2:c.6009C>T NP_001243111.1:p.Ala2003= NC_000016.10:89280532:G:A p.(Ala2003=) NC_000016.10:89280532:G:A p.(Ala2003=) NC_000016.10:89280532:G:A Identity +NM_001014763.1:c.136A>C NP_001014763.1:p.Arg46= NC_000019.10:51354502:T:G p.(Arg46=) NC_000019.10:51354502:T:G p.(Arg46=) NC_000019.10:51354502:T:G Identity +NM_001321786.1:c.1356C>T NP_001308715.1:p.Asp452= NC_000003.12:105720181:G:A p.(Asp452=) NC_000003.12:105720181:G:A p.(Asp452=) NC_000003.12:105720181:G:A Identity +NM_004621.6:c.285A>T NP_004612.2:p.Leu95= NC_000011.10:101504683:T:A p.(Leu95=) NC_000011.10:101504683:T:A p.(Leu95=) NC_000011.10:101504683:T:A Identity +NM_001384900.1:c.922C>T NP_001371829.1:p.Leu308= NC_000007.14:85042224:G:A p.(Leu308=) NC_000007.14:85042224:G:A p.(Leu308=) NC_000007.14:85042224:G:A Identity +NM_001093770.3:c.180C>T NP_001087239.2:p.Asp60= NC_000010.11:79611959:C:T p.(Asp60=) NC_000010.11:79611959:C:T p.(Asp60=) NC_000010.11:79611959:C:T Identity +NM_176822.4:c.1296C>A NP_789792.1:p.Ala432= NC_000011.10:7043321:C:A p.(Ala432=) NC_000011.10:7043321:C:A p.(Ala432=) NC_000011.10:7043321:C:A Identity +NM_001098623.2:c.13383G>T NP_001092093.2:p.Val4461= NC_000001.11:228316805:G:T p.(Val4461=) NC_000001.11:228316805:G:T p.(Val4461=) NC_000001.11:228316805:G:T Identity +NM_001077261.4:c.5718C>T NP_001070729.2:p.Cys1906= NC_000012.12:124337119:G:A p.(Cys1906=) NC_000012.12:124337119:G:A p.(Cys1906=) NC_000012.12:124337119:G:A Identity +NM_001377344.1:c.2514T>C NP_001364273.1:p.Pro838= NC_000003.12:66382300:A:G p.(Pro838=) NC_000003.12:66382300:A:G p.(Pro838=) NC_000003.12:66382300:A:G Identity +NM_001303245.3:c.663T>C NP_001290174.1:p.Phe221= NC_000003.12:141555890:T:C p.(Phe221=) NC_000003.12:141555890:T:C p.(Phe221=) NC_000003.12:141555890:T:C Identity +NM_003335.3:c.1314G>A NP_003326.2:p.Val438= NC_000003.12:49810669:C:T p.(Val438=) NC_000003.12:49810669:C:T p.(Val438=) NC_000003.12:49810669:C:T Identity +NM_001649.4:c.2535C>T NP_001640.1:p.Thr845= NC_000023.11:9896442:C:T p.(Thr845=) NC_000023.11:9896442:C:T p.(Thr845=) NC_000023.11:9896442:C:T Identity +NM_000296.4:c.12711G>A NP_000287.4:p.Gln4237= NC_000016.10:2089924:C:T p.(Gln4237=) NC_000016.10:2089924:C:T p.(Gln4237=) NC_000016.10:2089924:C:T Identity +NM_000148.4:c.822C>A NP_000139.1:p.Thr274= NC_000019.10:48750459:G:T p.(Thr274=) NC_000019.10:48750459:G:T p.(Thr274=) NC_000019.10:48750459:G:T Identity +NM_001111322.2:c.268AAG[6] NP_001104792.1:p.Lys94_Ser95insLys NC_000012.12:113180950:CTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTT p.(Lys94dup) NC_000012.12:113180964:T:CTTCTTCTTCTTCTTCTT ERR:Parse ERR:Parse Analogous +NM_001080424.2:c.789A>C NP_001073893.1:p.Pro263= NC_000017.11:7846895:A:C p.(Pro263=) NC_000017.11:7846895:A:C p.(Pro263=) NC_000017.11:7846895:A:C Identity +NM_001322500.2:c.165C>T NP_001309429.1:p.His55= NC_000003.12:41938170:G:A p.(His55=) NC_000003.12:41938170:G:A p.(His55=) NC_000003.12:41938170:G:A Identity +NM_014550.4:c.108T>C NP_055365.2:p.His36= NC_000022.11:37519092:A:G p.(His36=) NC_000022.11:37519092:A:G p.(His36=) NC_000022.11:37519092:A:G Identity +NM_001008860.3:c.339A>G NP_001008860.1:p.Lys113= NC_000015.10:22860679:A:G p.(Lys113=) NC_000015.10:22860679:A:G p.(Lys113=) NC_000015.10:22860679:A:G Identity +NM_001297434.2:c.381C>A NP_001284363.1:p.Ile127= NC_000001.11:37888268:G:T p.(Ile127=) NC_000001.11:37888268:G:T p.(Ile127=) NC_000001.11:37888268:G:T Identity +NM_001083900.1:c.10128G>A NP_001077369.1:p.Arg3376= NC_000012.12:123914457:G:A ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_014005.5:c.1614C>G NP_054724.1:p.Arg538= NC_000005.10:140850108:C:G ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014005.5 not found +NM_000420.3:c.1899A>G NP_000411.1:p.Leu633= NC_000007.14:142942916:T:C p.(Leu633=) NC_000007.14:142942916:T:C p.(Leu633=) NC_000007.14:142942916:T:C Identity +NM_001287499.2:c.1233G>A NP_001274428.1:p.Leu411= NC_000007.14:2590094:G:A p.(Leu411=) NC_000007.14:2590094:G:A p.(Leu411=) NC_000007.14:2590094:G:A Identity +NM_001308022.2:c.3501G>A NP_001294951.1:p.Ala1167= NC_000002.12:217818479:C:T p.(Ala1167=) NC_000002.12:217818479:C:T p.(Ala1167=) NC_000002.12:217818479:C:T Identity +NM_144691.4:c.1257C>A NP_653292.2:p.Gly419= NC_000019.10:38737260:G:T p.(Gly419=) NC_000019.10:38737260:G:T p.(Gly419=) NC_000019.10:38737260:G:T Identity +NM_001165903.2:c.150C>T NP_001159375.1:p.Asn50= NC_000007.14:73708646:G:A p.(Asn50=) NC_000007.14:73708646:G:A p.(Asn50=) NC_000007.14:73708646:G:A Identity +NM_020340.5:c.4785G>A NP_065073.3:p.Ala1595= NC_000006.12:138323688:G:A p.(Ala1595=) NC_000006.12:138323688:G:A p.(Ala1595=) NC_000006.12:138323688:G:A Identity +NM_001040056.3:c.1065G>A NP_001035145.1:p.Gly355= NC_000016.10:30116845:C:T p.(Gly355=) NC_000016.10:30116845:C:T p.(Gly355=) NC_000016.10:30116845:C:T Identity +NM_001040439.2:c.387C>T NP_001035529.1:p.Tyr129= NC_000016.10:1724624:C:T p.(Tyr129=) NC_000016.10:1724624:C:T p.(Tyr129=) NC_000016.10:1724624:C:T Identity +NM_001382637.1:c.1830G>A NP_001369566.1:p.Lys610= NC_000015.10:31484265:C:T p.(Lys610=) NC_000015.10:31484265:C:T p.(Lys610=) NC_000015.10:31484265:C:T Identity +NM_001135095.2:c.687T>C NP_001128567.1:p.His229= NC_000003.12:172251437:T:C p.(His229=) NC_000003.12:172251437:T:C p.(His229=) NC_000003.12:172251437:T:C Identity +NM_001365923.2:c.2394C>T NP_001352852.1:p.Pro798= NC_000003.12:174281164:C:T p.(Pro798=) NC_000003.12:174281164:C:T p.(Pro798=) NC_000003.12:174281164:C:T Identity +NM_001127610.2:c.672C>T NP_001121082.1:p.Val224= NC_000009.12:101363012:G:A p.(Val224=) NC_000009.12:101363012:G:A p.(Val224=) NC_000009.12:101363012:G:A Identity +NM_001083953.2:c.4149T>C NP_001077422.1:p.Ile1383= NC_000002.12:43398048:A:G p.(Ile1383=) NC_000002.12:43398048:A:G p.(Ile1383=) NC_000002.12:43398048:A:G Identity +NM_001243900.3:c.3177C>T NP_001230829.1:p.Asp1059= NC_000002.12:241233831:G:A p.(Asp1059=) NC_000002.12:241233831:G:A p.(Asp1059=) NC_000002.12:241233831:G:A Identity +NM_001318381.2:c.468T>C NP_001305310.1:p.Asp156= NC_000009.12:100240199:T:C p.(Asp156=) NC_000009.12:100240199:T:C p.(Asp156=) NC_000009.12:100240199:T:C Identity +NM_138295.5:c.4383T>C NP_612152.1:p.His1461= NC_000007.14:47857811:A:G p.(His1461=) NC_000007.14:47857811:A:G p.(His1461=) NC_000007.14:47857811:A:G Identity +NM_018451.5:c.564T>A NP_060921.3:p.Leu188= NC_000013.11:24911949:A:T p.(Leu188=) NC_000013.11:24911949:A:T p.(Leu188=) NC_000013.11:24911949:A:T Identity +NM_006345.4:c.84G>C NP_006336.3:p.Ala28= NC_000004.12:41990734:G:C p.(Ala28=) NC_000004.12:41990734:G:C p.(Ala28=) NC_000004.12:41990734:G:C Identity +NM_001127708.3:c.3690T>C NP_001121180.2:p.Tyr1230= NC_000001.11:186312193:T:C p.(Tyr1230=) NC_000001.11:186312193:T:C p.(Tyr1230=) NC_000001.11:186312193:T:C Identity +NM_020759.3:c.10026G>A NP_065810.2:p.Val3342= NC_000015.10:42691603:G:A p.(Val3342=) NC_000015.10:42691603:G:A p.(Val3342=) NC_000015.10:42691603:G:A Identity +NM_017677.4:c.1065C>T NP_060147.2:p.Leu355= NC_000023.11:64337303:G:A p.(Leu355=) NC_000023.11:64337303:G:A p.(Leu355=) NC_000023.11:64337303:G:A Identity +NM_001282856.2:c.6132C>T NP_001269785.1:p.Thr2044= NC_000001.11:155752300:G:A p.(Thr2044=) NC_000001.11:155752300:G:A p.(Thr2044=) NC_000001.11:155752300:G:A Identity +NM_018012.4:c.5505C>T NP_060482.2:p.Ala1835= NC_000001.11:245688487:C:T p.(Ala1835=) NC_000001.11:245688487:C:T p.(Ala1835=) NC_000001.11:245688487:C:T Identity +NM_001130082.3:c.2583C>T NP_001123554.1:p.Pro861= NC_000003.12:48419702:G:A p.(Pro861=) NC_000003.12:48419702:G:A p.(Pro861=) NC_000003.12:48419702:G:A Identity +NM_001288727.2:c.1257G>A NP_001275656.1:p.Glu419= NC_000010.11:102139764:G:A p.(Glu419=) NC_000010.11:102139764:G:A p.(Glu419=) NC_000010.11:102139764:G:A Identity +NM_000796.6:c.114G>A NP_000787.2:p.Ala38= NC_000003.12:114171878:C:T p.(Ala38=) NC_000003.12:114171878:C:T p.(Ala38=) NC_000003.12:114171878:C:T Identity +NM_001305008.1:c.1377A>G NP_001291937.1:p.Gln459= NC_000002.12:175930074:T:C p.(Gln459=) NC_000002.12:175930074:T:C p.(Gln459=) NC_000002.12:175930074:T:C Identity +NM_001141974.3:c.3387C>T NP_001135446.1:p.Pro1129= NC_000001.11:16986074:G:A p.(Pro1129=) NC_000001.11:16986074:G:A p.(Pro1129=) NC_000001.11:16986074:G:A Identity +NM_000617.3:c.535A>C NP_000608.1:p.Arg179= NC_000012.12:51000313:T:G p.(Arg179=) NC_000012.12:51000313:T:G p.(Arg179=) NC_000012.12:51000313:T:G Identity +NM_001408.3:c.2178G>A NP_001399.1:p.Pro726= NC_000001.11:109252256:G:A p.(Pro726=) NC_000001.11:109252256:G:A p.(Pro726=) NC_000001.11:109252256:G:A Identity +NM_000579.4:c.741C>T NP_000570.1:p.Phe247= NC_000003.12:46373642:C:T p.(Phe247=) NC_000003.12:46373642:C:T p.(Phe247=) NC_000003.12:46373642:C:T Identity +NM_012471.3:c.1929G>A NP_036603.1:p.Arg643= NC_000023.11:111782105:C:T p.(Arg643=) NC_000023.11:111782105:C:T p.(Arg643=) NC_000023.11:111782105:C:T Identity +NM_001319667.1:c.576T>C NP_001306596.1:p.Tyr192= NC_000001.11:169468687:A:G p.(Tyr192=) NC_000001.11:169468687:A:G p.(Tyr192=) NC_000001.11:169468687:A:G Identity +NM_001372076.1:c.504G>A NP_001359005.1:p.Ala168= NC_000014.9:36663395:G:A p.(Ala168=) NC_000014.9:36663395:G:A p.(Ala168=) NC_000014.9:36663395:G:A Identity +NM_003320.5:c.1542T>C NP_003311.2:p.His514= NC_000011.10:8100986:T:C p.(His514=) NC_000011.10:8100986:T:C p.(His514=) NC_000011.10:8100986:T:C Identity +NM_024496.4:c.1500G>C NP_078772.1:p.Leu500= NC_000014.9:77026292:C:G p.(Leu500=) NC_000014.9:77026292:C:G p.(Leu500=) NC_000014.9:77026292:C:G Identity +NM_001286561.2:c.4044C>T NP_001273490.1:p.Leu1348= NC_000011.10:72013458:G:A p.(Leu1348=) NC_000011.10:72013458:G:A p.(Leu1348=) NC_000011.10:72013458:G:A Identity +NM_000509.6:c.720A>T NP_000500.2:p.Gly240= NC_000004.12:154608596:T:A p.(Gly240=) NC_000004.12:154608596:T:A p.(Gly240=) NC_000004.12:154608596:T:A Identity +NM_001278666.2:c.252T>G NP_001265595.1:p.Ala84= NC_000006.12:57196595:A:C p.(Ala84=) NC_000006.12:57196595:A:C p.(Ala84=) NC_000006.12:57196595:A:C Identity +NM_001377344.1:c.132C>T NP_001364273.1:p.Ala44= NC_000003.12:66500275:G:A p.(Ala44=) NC_000003.12:66500275:G:A p.(Ala44=) NC_000003.12:66500275:G:A Identity +NM_007118.4:c.5457C>T NP_009049.2:p.Asp1819= NC_000005.10:14461271:C:T p.(Asp1819=) NC_000005.10:14461271:C:T p.(Asp1819=) NC_000005.10:14461271:C:T Identity +NM_001145795.2:c.1245G>A NP_001139267.1:p.Ser415= NC_000016.10:28869318:G:A p.(Ser415=) NC_000016.10:28869318:G:A p.(Ser415=) NC_000016.10:28869318:G:A Identity +NM_003335.3:c.264C>T NP_003326.2:p.Ala88= NC_000003.12:49813344:G:A p.(Ala88=) NC_000003.12:49813344:G:A p.(Ala88=) NC_000003.12:49813344:G:A Identity +NM_001370598.1:c.720G>A NP_001357527.1:p.Ala240= NC_000012.12:111306967:G:A p.(Ala240=) NC_000012.12:111306967:G:A p.(Ala240=) NC_000012.12:111306967:G:A Identity +NM_001003841.3:c.595C>T NP_001003841.1:p.Leu199= NC_000005.10:1212415:C:T p.(Leu199=) NC_000005.10:1212415:C:T p.(Leu199=) NC_000005.10:1212415:C:T Identity +NM_001850.5:c.213C>A NP_001841.2:p.Gly71= NC_000003.12:99790894:C:A p.(Gly71=) NC_000003.12:99790894:C:A p.(Gly71=) NC_000003.12:99790894:C:A Identity +NM_001410898.1:c.378G>A NP_001397827.1:p.Val126= NC_000016.10:29923225:C:T p.(Val126=) NC_000016.10:29923225:C:T p.(Val126=) NC_000016.10:29923225:C:T Identity +NM_001323553.2:c.435C>T NP_001310482.1:p.Asn145= NC_000008.11:131953871:C:T p.(Asn145=) NC_000008.11:131953871:C:T p.(Asn145=) NC_000008.11:131953871:C:T Identity +NM_138736.3:c.927G>A NP_620073.2:p.Glu309= NC_000016.10:56343811:G:A p.(Glu309=) NC_000016.10:56343811:G:A p.(Glu309=) NC_000016.10:56343811:G:A Identity +NM_133369.3:c.942C>T NP_588610.2:p.Val314= NC_000005.10:176874022:C:T p.(Val314=) NC_000005.10:176874022:C:T p.(Val314=) NC_000005.10:176874022:C:T Identity +NM_001253387.2:c.2607A>G NP_001240316.1:p.Arg869= NC_000003.12:391022:A:G p.(Arg869=) NC_000003.12:391022:A:G p.(Arg869=) NC_000003.12:391022:A:G Identity +NM_000129.4:c.633G>T NP_000120.2:p.Gly211= NC_000006.12:6250867:C:A p.(Gly211=) NC_000006.12:6250867:C:A p.(Gly211=) NC_000006.12:6250867:C:A Identity +NM_015001.3:c.1926T>C NP_055816.2:p.Tyr642= NC_000001.11:15928165:T:C p.(Tyr642=) NC_000001.11:15928165:T:C p.(Tyr642=) NC_000001.11:15928165:T:C Identity +NM_001168370.2:c.4713C>T NP_001161842.2:p.Asp1571= NC_000006.12:43038422:G:A p.(Asp1571=) NC_000006.12:43038422:G:A p.(Asp1571=) NC_000006.12:43038422:G:A Identity +NM_001126128.2:c.30G>T NP_001119600.1:p.Leu10= NC_000003.12:71785022:C:A p.(Leu10=) NC_000003.12:71785022:C:A p.(Leu10=) NC_000003.12:71785022:C:A Identity +NM_001160045.2:c.561C>T NP_001153517.1:p.Leu187= NC_000012.12:57467364:C:T p.(Leu187=) NC_000012.12:57467364:C:T p.(Leu187=) NC_000012.12:57467364:C:T Identity +NM_001256630.1:c.75C>G NP_001243559.1:p.Ser25= NC_000011.10:1411478:C:G p.(Ser25=) NC_000011.10:1411478:C:G p.(Ser25=) NC_000011.10:1411478:C:G Identity +NM_001005366.2:c.393G>C NP_001005366.1:p.Thr131= NC_000012.12:121549549:C:G p.(Thr131=) NC_000012.12:121549549:C:G p.(Thr131=) NC_000012.12:121549549:C:G Identity +NM_000579.4:c.69C>A NP_000570.1:p.Ile23= NC_000003.12:46372970:C:A p.(Ile23=) NC_000003.12:46372970:C:A p.(Ile23=) NC_000003.12:46372970:C:A Identity +NM_001975.3:c.409C>T NP_001966.1:p.Leu137= NC_000012.12:6917678:C:T p.(Leu137=) NC_000012.12:6917678:C:T p.(Leu137=) NC_000012.12:6917678:C:T Identity +NM_001362843.2:c.6222C>T NP_001349772.1:p.Ile2074= NC_000022.11:41178010:C:T p.(Ile2074=) NC_000022.11:41178010:C:T p.(Ile2074=) NC_000022.11:41178010:C:T Identity +NM_001135999.2:c.258T>C NP_001129471.2:p.Ser86= NC_000009.12:35546778:T:C p.(Ser86=) NC_000009.12:35546778:T:C p.(Ser86=) NC_000009.12:35546778:T:C Identity +NM_001195432.4:c.126G>T NP_001182361.2:p.Thr42= NC_000003.12:158593386:G:T p.(Thr42=) NC_000003.12:158593386:G:T p.(Thr42=) NC_000003.12:158593386:G:T Identity +NM_001112726.3:c.1425G>T NP_001106197.1:p.Arg475= NC_000014.9:104884203:G:T p.(Arg475=) NC_000014.9:104884203:G:T p.(Arg475=) NC_000014.9:104884203:G:T Identity +NM_002253.4:c.2868T>G NP_002244.1:p.Pro956= NC_000004.12:55094904:A:C p.(Pro956=) NC_000004.12:55094904:A:C p.(Pro956=) NC_000004.12:55094904:A:C Identity +NM_031308.4:c.4590C>G NP_112598.3:p.Ala1530= NC_000008.11:143868663:G:C p.(Ala1530=) NC_000008.11:143868663:G:C p.(Ala1530=) NC_000008.11:143868663:G:C Identity +NM_001401501.2:c.38610A>G NP_001388430.1:p.Arg12870= NC_000019.10:8903874:T:C p.(Arg12870=) NC_000019.10:8903874:T:C p.(Arg12870=) NC_000019.10:8903874:T:C Identity +NM_004943.2:c.1362C>G NP_004934.1:p.Pro454= NC_000019.10:45786133:G:C p.(Pro454=) NC_000019.10:45786133:G:C p.(Pro454=) NC_000019.10:45786133:G:C Identity +NM_001029882.3:c.729C>T NP_001025053.1:p.Asp243= NC_000001.11:27551386:G:A p.(Asp243=) NC_000001.11:27551386:G:A p.(Asp243=) NC_000001.11:27551386:G:A Identity +NM_001025108.2:c.2985C>T NP_001020279.1:p.Phe995= NC_000002.12:99578334:G:A p.(Phe995=) NC_000002.12:99578334:G:A p.(Phe995=) NC_000002.12:99578334:G:A Identity +NM_001130065.2:c.5589G>A NP_001123537.1:p.Pro1863= NC_000019.10:17207208:G:A p.(Pro1863=) NC_000019.10:17207208:G:A p.(Pro1863=) NC_000019.10:17207208:G:A Identity +NM_001152.5:c.672C>T NP_001143.2:p.Ala224= NC_000023.11:119470445:C:T p.(Ala224=) NC_000023.11:119470445:C:T p.(Ala224=) NC_000023.11:119470445:C:T Identity +NM_001098623.2:c.16677C>A NP_001092093.2:p.Pro5559= NC_000001.11:228337259:C:A p.(Pro5559=) NC_000001.11:228337259:C:A p.(Pro5559=) NC_000001.11:228337259:C:A Identity +NM_001366142.2:c.1641A>C NP_001353071.1:p.Arg547= NC_000009.12:70625514:T:G p.(Arg547=) NC_000009.12:70625514:T:G p.(Arg547=) NC_000009.12:70625514:T:G Identity +NM_001308022.2:c.3933T>C NP_001294951.1:p.Gly1311= NC_000002.12:217818047:A:G p.(Gly1311=) NC_000002.12:217818047:A:G p.(Gly1311=) NC_000002.12:217818047:A:G Identity +NM_004943.2:c.1245C>T NP_004934.1:p.Gly415= NC_000019.10:45786250:G:A p.(Gly415=) NC_000019.10:45786250:G:A p.(Gly415=) NC_000019.10:45786250:G:A Identity +NM_006767.4:c.750A>G NP_006758.2:p.Lys250= NC_000022.11:20990483:A:G p.(Lys250=) NC_000022.11:20990483:A:G p.(Lys250=) NC_000022.11:20990483:A:G Identity +NM_001146029.3:c.465C>T NP_001139501.1:p.Tyr155= NC_000015.10:74417633:G:A p.(Tyr155=) NC_000015.10:74417633:G:A p.(Tyr155=) NC_000015.10:74417633:G:A Identity +NM_052947.4:c.828A>G NP_443179.3:p.Leu276= NC_000018.10:58579947:T:C p.(Leu276=) NC_000018.10:58579947:T:C p.(Leu276=) NC_000018.10:58579947:T:C Identity +NM_001129820.2:c.1914C>T NP_001123292.1:p.Thr638= NC_000017.11:35549063:G:A p.(Thr638=) NC_000017.11:35549063:G:A p.(Thr638=) NC_000017.11:35549063:G:A Identity +NM_058222.3:c.534C>G NP_478129.1:p.Ser178= NC_000010.11:112293787:C:G p.(Ser178=) NC_000010.11:112293787:C:G p.(Ser178=) NC_000010.11:112293787:C:G Identity +NM_001290321.3:c.585T>G NP_001277250.1:p.Val195= NC_000005.10:119116177:T:G p.(Val195=) NC_000005.10:119116177:T:G p.(Val195=) NC_000005.10:119116177:T:G Identity +NM_001105513.3:c.3726T>C NP_001098983.2:p.Ile1242= NC_000003.12:39138607:T:C p.(Ile1242=) NC_000003.12:39138607:T:C p.(Ile1242=) NC_000003.12:39138607:T:C Identity +NM_001354635.2:c.201T>G NP_001341564.1:p.Pro67= NC_000008.11:9011688:T:G p.(Pro67=) NC_000008.11:9011688:T:G p.(Pro67=) NC_000008.11:9011688:T:G Identity +NM_001317122.2:c.681A>G NP_001304051.1:p.Pro227= NC_000001.11:35894067:A:G p.(Pro227=) NC_000001.11:35894067:A:G p.? NC_000001.11:35894067:A:G Identity +NM_001112726.3:c.1119T>C NP_001106197.1:p.Ala373= NC_000014.9:104883897:T:C p.(Ala373=) NC_000014.9:104883897:T:C p.(Ala373=) NC_000014.9:104883897:T:C Identity +NM_001320613.2:c.2577C>A NP_001307542.1:p.Arg859= NC_000002.12:24826047:G:T p.(Arg859=) NC_000002.12:24826047:G:T p.(Arg859=) NC_000002.12:24826047:G:T Identity +NM_018672.5:c.3265T>C NP_061142.2:p.Leu1089= NC_000017.11:69264784:A:G p.(Leu1089=) NC_000017.11:69264784:A:G p.(Leu1089=) NC_000017.11:69264784:A:G Identity +NM_016233.2:c.1869G>T NP_057317.2:p.Pro623= NC_000001.11:17282952:G:T p.(Pro623=) NC_000001.11:17282952:G:T p.(Pro623=) NC_000001.11:17282952:G:T Identity +NM_001198950.3:c.3219T>C NP_001185879.1:p.Asp1073= NC_000013.11:109055478:T:C p.(Asp1073=) NC_000013.11:109055478:T:C p.(Asp1073=) NC_000013.11:109055478:T:C Identity +NM_020719.3:c.273T>C NP_065770.1:p.Leu91= NC_000019.10:49594526:T:C p.(Leu91=) NC_000019.10:49594526:T:C p.(Leu91=) NC_000019.10:49594526:T:C Identity +NM_001172771.2:c.465G>A NP_001166242.1:p.Leu155= NC_000016.10:70659682:G:A p.(Leu155=) NC_000016.10:70659682:G:A p.(Leu155=) NC_000016.10:70659682:G:A Identity +NM_052947.4:c.3528C>A NP_443179.3:p.Pro1176= NC_000018.10:58536658:G:T p.(Pro1176=) NC_000018.10:58536658:G:T p.(Pro1176=) NC_000018.10:58536658:G:T Identity +NM_001282873.2:c.7632A>C NP_001269802.1:p.Leu2544= NC_000008.11:102264524:T:G p.(Leu2544=) NC_000008.11:102264524:T:G p.(Leu2544=) NC_000008.11:102264524:T:G Identity +NM_001308022.2:c.615A>G NP_001294951.1:p.Pro205= NC_000002.12:217886093:T:C p.(Pro205=) NC_000002.12:217886093:T:C p.(Pro205=) NC_000002.12:217886093:T:C Identity +NM_001297716.2:c.360G>A NP_001284645.1:p.Arg120= NC_000005.10:76132109:G:A p.(Arg120=) NC_000005.10:76132109:G:A p.(Arg120=) NC_000005.10:76132109:G:A Identity +NM_000620.5:c.2706C>T NP_000611.1:p.His902= NC_000012.12:117247464:G:A p.(His902=) NC_000012.12:117247464:G:A p.(His902=) NC_000012.12:117247464:G:A Identity +NM_009589.5:c.1147T>C NP_033667.2:p.Ter383Gln NC_000023.11:2914626:A:G p.(Ter383GlnextTer45) NC_000023.11:2914626:A:G p.(Ter383GlnextTer45) NC_000023.11:2914626:A:G Analogous +NM_001378328.1:c.5178C>T NP_001365257.1:p.Ser1726= NC_000022.11:46409043:G:A p.(Ser1726=) NC_000022.11:46409043:G:A p.(Ser1726=) NC_000022.11:46409043:G:A Identity +NM_015346.4:c.3331C>T NP_056161.2:p.Leu1111= NC_000014.9:67785250:G:A p.(Leu1111=) NC_000014.9:67785250:G:A p.(Leu1111=) NC_000014.9:67785250:G:A Identity +NM_032119.4:c.5720_5721del NP_115495.3:p.Asp1906_Ser1907insTer NC_000005.10:90683638:CTCT:CT p.(Ser1907Ter) NC_000005.10:90683638:CTCT:CT p.(Ser1907Ter) NC_000005.10:90683640:CT: Analogous +NM_001318876.2:c.903G>C NP_001305805.1:p.Arg301= NC_000006.12:43521028:G:C p.(Arg301=) NC_000006.12:43521028:G:C p.(Arg301=) NC_000006.12:43521028:G:C Identity +NM_001256182.2:c.5637A>C NP_001243111.1:p.Pro1879= NC_000016.10:89280904:T:G p.(Pro1879=) NC_000016.10:89280904:T:G p.(Pro1879=) NC_000016.10:89280904:T:G Identity +NM_173598.6:c.711G>C NP_775869.4:p.Pro237= NC_000012.12:117761285:C:G p.(Pro237=) NC_000012.12:117761285:C:G p.(Pro237=) NC_000012.12:117761285:C:G Identity +NM_001281463.1:c.2460G>A NP_001268392.1:p.Val820= NC_000023.11:53399624:C:T p.(Val820=) NC_000023.11:53399624:C:T p.(Val820=) NC_000023.11:53399624:C:T Identity +NM_000069.3:c.5380C>A NP_000060.2:p.Arg1794= NC_000001.11:201040072:G:T p.(Arg1794=) NC_000001.11:201040072:G:T p.(Arg1794=) NC_000001.11:201040072:G:T Identity +NM_032595.5:c.222G>C NP_115984.3:p.Ala74= NC_000017.11:50150291:C:G p.(Ala74=) NC_000017.11:50150291:C:G p.(Ala74=) NC_000017.11:50150291:C:G Identity +NM_001127493.3:c.5277T>C NP_001120965.1:p.Asp1759= NC_000004.12:113369753:T:C p.(Asp1759=) NC_000004.12:113369753:T:C p.(Asp1759=) NC_000004.12:113369753:T:C Identity +NM_000495.5:c.1608T>A NP_000486.1:p.Gly536= NC_000023.11:108597396:T:A p.(Gly536=) NC_000023.11:108597396:T:A p.(Gly536=) NC_000023.11:108597396:T:A Identity +NM_002124.4:c.125_127del NP_002115.2:p.Arg42_Glu43delinsLys NC_000006.12:32584351:CCC: p.(Arg42_Glu43delinsLys) NC_000006.12:32584351:CCC: p.(Arg42_Glu43delinsLys) NC_000006.12:32584351:CCC: Identity +NM_001428056.1:c.2944delTinsATCA NP_001414985.1:p.Ser982delinsIleThr NC_000021.9:18275291:A:TGAT p.(Ser982delinsIleThr) NC_000021.9:18275291:A:TGAT p.(Ser982delinsIleThr) NC_000021.9:18275291:A:TGAT Identity +NM_000397.3:c.62delT NP_000388.2:p.Leu21Terfs NC_000023.11:37782102:TT:T ERR:Data provider error: ValueError: Transcript NM_000397.3 not found ERR:Data provider error: ValueError: Transcript NM_000397.3 not found ERR:AlignmentMapper(tx_ac=NM_000397.3, alt_ac=NM_000397.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000397.3, alt_ac=NM_000397.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000397.3 not found +NM_000557.5:c.303_317del NP_000548.2:p.Gly102_Pro106del NC_000020.11:35437611:GGTTCAGGGCCGCCCGGT:GGT p.(Gly102_Pro106del) NC_000020.11:35437611:GGTTCAGGGCCGCCCGGT:GGT p.(Gly102_Pro106del) NC_000020.11:35437611:GGTTCAGGGCCGCCC: Identity +NM_001256071.3:c.2196A>G NP_001243000.2:p.Glu732= NC_000017.11:80298503:A:G p.(Glu732=) NC_000017.11:80298503:A:G p.(Glu732=) NC_000017.11:80298503:A:G Identity +NM_000096.4:c.45C>T NP_000087.2:p.Thr15= NC_000003.12:149221747:G:A p.(Thr15=) NC_000003.12:149221747:G:A p.(Thr15=) NC_000003.12:149221747:G:A Identity +NM_001040113.2:c.4611_4619del NP_001035202.1:p.Glu1538_Ser1540del NC_000016.10:15721031:GACTTCTCC: p.(Glu1538_Ser1540del) NC_000016.10:15721031:GACTTCTCC: p.(Glu1538_Ser1540del) NC_000016.10:15721031:GACTTCTCC: Identity +NM_001040113.2:c.4606_4607insGACTTCTCC NP_001035202.1:p.Glu1536delinsGlyLeuLeuGln NC_000016.10:15721044::GGAGAAGTC p.(Glu1536delinsGlyLeuLeuGln) NC_000016.10:15721043:T:GGAGAAGTC p.(Glu1536delinsGlyLeuLeuGln) NC_000016.10:15721044:TC:GGAGAAGTC Identity +NM_000069.3:c.3798C>T NP_000060.2:p.Ala1266= NC_000001.11:201053271:G:A p.(Ala1266=) NC_000001.11:201053271:G:A p.(Ala1266=) NC_000001.11:201053271:G:A Identity +NM_000038.6:c.867C>G NP_000029.2:p.Ala289= NC_000005.10:112815526:C:G p.(Ala289=) NC_000005.10:112815526:C:G p.(Ala289=) NC_000005.10:112815526:C:G Identity +NM_001407240.1:c.1431G>C NP_001394169.1:p.Leu477= NC_000001.11:55058162:G:C p.(Leu477=) NC_000001.11:55058162:G:C p.(Leu477=) NC_000001.11:55058162:G:C Identity +NM_000540.3:c.8085G>A NP_000531.2:p.Leu2695= NC_000019.10:38504764:G:A p.(Leu2695=) NC_000019.10:38504764:G:A p.(Leu2695=) NC_000019.10:38504764:G:A Identity +NM_004415.4:c.4305C>G NP_004406.2:p.Ala1435= NC_000006.12:7580494:C:G p.(Ala1435=) NC_000006.12:7580494:C:G p.(Ala1435=) NC_000006.12:7580494:C:G Identity +NM_000540.3:c.8322C>T NP_000531.2:p.Asn2774= NC_000019.10:38505319:C:T p.(Asn2774=) NC_000019.10:38505319:C:T p.(Asn2774=) NC_000019.10:38505319:C:T Identity +NM_001943.5:c.2520C>T NP_001934.2:p.Cys840= NC_000018.10:31545905:C:T p.(Cys840=) NC_000018.10:31545905:C:T p.(Cys840=) NC_000018.10:31545905:C:T Identity +NM_001040113.2:c.4005C>T NP_001035202.1:p.Thr1335= NC_000016.10:15724778:G:A p.(Thr1335=) NC_000016.10:15724778:G:A p.(Thr1335=) NC_000016.10:15724778:G:A Identity +NM_001407274.1:c.696C>T NP_001394203.1:p.Pro232= NC_000003.12:14134878:C:T p.(Pro232=) NC_000003.12:14134878:C:T p.(Pro232=) NC_000003.12:14134878:C:T Identity +NM_001035.3:c.2937C>T NP_001026.2:p.Ala979= NC_000001.11:237548460:C:T p.(Ala979=) NC_000001.11:237548460:C:T p.(Ala979=) NC_000001.11:237548460:C:T Identity +NM_017841.4:c.18G>T NP_060311.1:p.Val6= NC_000011.10:61430163:G:T p.(Val6=) NC_000011.10:61430163:G:T p.(Val6=) NC_000011.10:61430163:G:T Identity +NM_000540.3:c.1416C>T NP_000531.2:p.Asn472= NC_000019.10:38452989:C:T p.(Asn472=) NC_000019.10:38452989:C:T p.(Asn472=) NC_000019.10:38452989:C:T Identity +NM_001145102.2:c.252A>G NP_001138574.1:p.Gly84= NC_000015.10:67166812:A:G p.(Gly84=) NC_000015.10:67166812:A:G p.(Gly84=) NC_000015.10:67166812:A:G Identity +NM_001035.3:c.9717G>T NP_001026.2:p.Leu3239= NC_000001.11:237707084:G:T p.(Leu3239=) NC_000001.11:237707084:G:T p.(Leu3239=) NC_000001.11:237707084:G:T Identity +NM_000090.4:c.1089T>C NP_000081.2:p.Gly363= NC_000002.12:188993398:T:C p.(Gly363=) NC_000002.12:188993398:T:C p.(Gly363=) NC_000002.12:188993398:T:C Identity +NM_000540.3:c.8979G>A NP_000531.2:p.Gln2993= NC_000019.10:38510543:G:A p.(Gln2993=) NC_000019.10:38510543:G:A p.(Gln2993=) NC_000019.10:38510543:G:A Identity +NM_000378.6:c.288C>G NP_000369.4:p.Gly96= NC_000011.10:32435072:G:C p.(Gly96=) NC_000011.10:32435072:G:C p.(Gly96=) NC_000011.10:32435072:G:C Identity +NM_001407274.1:c.993C>A NP_001394203.1:p.Leu331= NC_000003.12:14139286:C:A p.(Leu331=) NC_000003.12:14139286:C:A p.(Leu331=) NC_000003.12:14139286:C:A Identity +NM_001035.3:c.12781C>T NP_001026.2:p.Leu4261= NC_000001.11:237784492:C:T p.(Leu4261=) NC_000001.11:237784492:C:T p.(Leu4261=) NC_000001.11:237784492:C:T Identity +NM_001035.3:c.9426C>A NP_001026.2:p.Thr3142= NC_000001.11:237702035:C:A p.(Thr3142=) NC_000001.11:237702035:C:A p.(Thr3142=) NC_000001.11:237702035:C:A Identity +NM_000540.3:c.9162C>G NP_000531.2:p.Val3054= NC_000019.10:38511599:C:G p.(Val3054=) NC_000019.10:38511599:C:G p.(Val3054=) NC_000019.10:38511599:C:G Identity +NM_000069.3:c.1341G>A NP_000060.2:p.Leu447= NC_000001.11:201083213:C:T p.(Leu447=) NC_000001.11:201083213:C:T p.(Leu447=) NC_000001.11:201083213:C:T Identity +NM_000090.4:c.387A>T NP_000081.2:p.Pro129= NC_000002.12:188985717:A:T p.(Pro129=) NC_000002.12:188985717:A:T p.(Pro129=) NC_000002.12:188985717:A:T Identity +NM_000053.4:c.183A>G NP_000044.2:p.Thr61= NC_000013.11:51975036:T:C p.(Thr61=) NC_000013.11:51975036:T:C p.(Thr61=) NC_000013.11:51975036:T:C Identity +NM_001406506.1:c.2208T>C NP_001393435.1:p.Asp736= NC_000018.10:31068083:A:G p.(Asp736=) NC_000018.10:31068083:A:G p.(Asp736=) NC_000018.10:31068083:A:G Identity +NM_001406506.1:c.696A>G NP_001393435.1:p.Arg232= NC_000018.10:31082375:T:C p.(Arg232=) NC_000018.10:31082375:T:C p.(Arg232=) NC_000018.10:31082375:T:C Identity +NM_001040113.2:c.4125T>C NP_001035202.1:p.Thr1375= NC_000016.10:15724658:A:G p.(Thr1375=) NC_000016.10:15724658:A:G p.(Thr1375=) NC_000016.10:15724658:A:G Identity +NM_001035.3:c.1812T>C NP_001026.2:p.His604= NC_000001.11:237491908:T:C p.(His604=) NC_000001.11:237491908:T:C p.(His604=) NC_000001.11:237491908:T:C Identity +NM_000540.3:c.4629C>T NP_000531.2:p.Pro1543= NC_000019.10:38483034:C:T p.(Pro1543=) NC_000019.10:38483034:C:T p.(Pro1543=) NC_000019.10:38483034:C:T Identity +NM_004415.4:c.4680G>A NP_004406.2:p.Gln1560= NC_000006.12:7580869:G:A p.(Gln1560=) NC_000006.12:7580869:G:A p.(Gln1560=) NC_000006.12:7580869:G:A Identity +NM_000335.5:c.5766T>C NP_000326.2:p.His1922= NC_000003.12:38550602:A:G p.(His1922=) NC_000003.12:38550602:A:G p.(His1922=) NC_000003.12:38550602:A:G Identity +NM_000335.5:c.1923G>A NP_000326.2:p.Gln641= NC_000003.12:38599017:C:T p.(Gln641=) NC_000003.12:38599017:C:T p.(Gln641=) NC_000003.12:38599017:C:T Identity +NM_001407611.1:c.3918T>C NP_001394540.1:p.Thr1306= NC_000017.11:43091609:A:G p.(Thr1306=) NC_000017.11:43091609:A:G p.(Thr1306=) NC_000017.11:43091609:A:G Identity +NM_000179.3:c.3919_3920insGAT NP_000170.1:p.Asn1307delinsArgTyr NC_000002.12:47806569::GAT p.(Asn1307delinsArgTyr) NC_000002.12:47806568:A:GAT p.(Asn1307delinsArgTyr) NC_000002.12:47806569:AA:GAT Identity +NM_000368.5:c.138G>A NP_000359.1:p.Val46= NC_000009.12:132927272:C:T p.(Val46=) NC_000009.12:132927272:C:T p.(Val46=) NC_000009.12:132927272:C:T Identity +NM_000090.4:c.2769A>G NP_000081.2:p.Lys923= NC_000002.12:189004088:A:G p.(Lys923=) NC_000002.12:189004088:A:G p.(Lys923=) NC_000002.12:189004088:A:G Identity +NM_000540.3:c.5778G>T NP_000531.2:p.Leu1926= NC_000019.10:38489406:G:T p.(Leu1926=) NC_000019.10:38489406:G:T p.(Leu1926=) NC_000019.10:38489406:G:T Identity +NM_000540.3:c.11334G>C NP_000531.2:p.Val3778= NC_000019.10:38534793:G:C p.(Val3778=) NC_000019.10:38534793:G:C p.(Val3778=) NC_000019.10:38534793:G:C Identity +NM_001008844.3:c.3061C>T NP_001008844.1:p.Leu1021= NC_000006.12:7578538:C:T p.(Leu1021=) NC_000006.12:7578538:C:T p.(Leu1021=) NC_000006.12:7578538:C:T Identity +NM_000540.3:c.1968G>T NP_000531.2:p.Thr656= NC_000019.10:38458092:G:T p.(Thr656=) NC_000019.10:38458092:G:T p.(Thr656=) NC_000019.10:38458092:G:T Identity +NM_001406613.1:c.447C>A NP_001393542.1:p.Val149= NC_000009.12:132921881:G:T p.(Val149=) NC_000009.12:132921881:G:T p.(Val149=) NC_000009.12:132921881:G:T Identity +NM_001035.3:c.42G>A NP_001026.2:p.Leu14= NC_000001.11:237042562:G:A p.(Leu14=) NC_000001.11:237042562:G:A p.(Leu14=) NC_000001.11:237042562:G:A Identity +NM_001008844.3:c.3991_3996del NP_001008844.1:p.Thr1331_Glu1332del NC_000006.12:7583045:AGAAACAGAA:AGAA p.(Thr1331_Glu1332del) NC_000006.12:7583045:AGAAACAGAA:AGAA p.(Thr1331_Glu1332del) NC_000006.12:7583049:ACAGAA: Identity +NM_001042723.2:c.10977T>G NP_001036188.1:p.Thr3659= NC_000019.10:38528652:T:G p.(Thr3659=) NC_000019.10:38528652:T:G p.(Thr3659=) NC_000019.10:38528652:T:G Identity +NM_001407274.1:c.1005G>A NP_001394203.1:p.Val335= NC_000003.12:14141593:G:A p.(Val335=) NC_000003.12:14141593:G:A p.(Val335=) NC_000003.12:14141593:G:A Identity +NM_001040113.2:c.4641G>A NP_001035202.1:p.Gln1547= NC_000016.10:15721009:C:T p.(Gln1547=) NC_000016.10:15721009:C:T p.(Gln1547=) NC_000016.10:15721009:C:T Identity +NM_001141945.3:c.1101C>T NP_001135417.1:p.Ala367= NC_000010.11:88935255:G:A p.(Ala367=) NC_000010.11:88935255:G:A p.(Ala367=) NC_000010.11:88935255:G:A Identity +NM_153700.2:c.22CTG[12] NP_714544.1:p.Leu18_Ser19insLeu NC_000015.10:43618668:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG p.(Leu18dup) NC_000015.10:43618700:G:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ERR:Parse ERR:Parse Analogous +NM_001142763.2:c.297T>C NP_001136235.1:p.Leu99= NC_000010.11:54378817:A:G p.(Leu99=) NC_000010.11:54378817:A:G p.(Leu99=) NC_000010.11:54378817:A:G Identity +NM_001130991.3:c.2511G>A NP_001124463.1:p.Lys837= NC_000011.10:119047817:C:T p.(Lys837=) NC_000011.10:119047817:C:T p.(Lys837=) NC_000011.10:119047817:C:T Identity +NM_000694.4:c.705C>T NP_000685.1:p.Phe235= NC_000011.10:68021626:C:T p.(Phe235=) NC_000011.10:68021626:C:T p.(Phe235=) NC_000011.10:68021626:C:T Identity +NM_001144.6:c.534G>A NP_001135.3:p.Thr178= NC_000016.10:56408095:C:T p.(Thr178=) NC_000016.10:56408095:C:T p.(Thr178=) NC_000016.10:56408095:C:T Identity +NM_020764.4:c.2778C>T NP_065815.1:p.Ala926= NC_000016.10:2180589:G:A p.(Ala926=) NC_000016.10:2180589:G:A p.(Ala926=) NC_000016.10:2180589:G:A Identity +NM_001025197.1:c.300G>A NP_001020368.1:p.Gly100= NC_000001.11:111234906:G:A p.(Gly100=) NC_000001.11:111234906:G:A p.(Gly100=) NC_000001.11:111234906:G:A Identity +NM_175856.5:c.2574C>T NP_787052.3:p.Phe858= NC_000005.10:130185715:C:T p.(Phe858=) NC_000005.10:130185715:C:T p.(Phe858=) NC_000005.10:130185715:C:T Identity +NM_000038.6:c.2496C>T NP_000029.2:p.Pro832= NC_000005.10:112838089:C:T p.(Pro832=) NC_000005.10:112838089:C:T p.(Pro832=) NC_000005.10:112838089:C:T Identity +NM_000038.6:c.2943C>T NP_000029.2:p.Pro981= NC_000005.10:112838536:C:T p.(Pro981=) NC_000005.10:112838536:C:T p.(Pro981=) NC_000005.10:112838536:C:T Identity +NM_000038.6:c.1977C>T NP_000029.2:p.Asn659= NC_000005.10:112837570:C:T p.(Asn659=) NC_000005.10:112837570:C:T p.(Asn659=) NC_000005.10:112837570:C:T Identity +NM_000051.4:c.4299_4300del NP_000042.3:p.Tyr1433_Lys1434delinsTer NC_000011.10:108289661:TATA:TA p.(Tyr1433Ter) NC_000011.10:108289661:TATA:TA p.(Tyr1433Ter) NC_000011.10:108289663:TA: Analogous +NM_000038.6:c.366G>T NP_000029.2:p.Gly122= NC_000005.10:112767333:G:T p.(Gly122=) NC_000005.10:112767333:G:T p.(Gly122=) NC_000005.10:112767333:G:T Identity +NM_000051.4:c.1171del NP_000042.3:p.Glu390_Leu391insTer NC_000011.10:108249037:C: p.(Leu391Ter) NC_000011.10:108249037:C: p.(Leu391Ter) NC_000011.10:108249037:C: Analogous +NM_058216.3:c.969_977delinsTCTTTAAGCAG NP_478123.1:p.Leu323_Leu326delinsPheLeuTer NC_000017.11:58732486:GGCAACATT:TCTTTAAGCAG p.(Ala324SerfsTer41) NC_000017.11:58732484:TTGGCAACATTG:TTGTCTTTAAGCAG p.(Leu323PhefsTer3) NC_000017.11:58732486:GGCAACATT:TCTTTAAGCAG Different +NM_000038.6:c.4998A>G NP_000029.2:p.Pro1666= NC_000005.10:112840591:A:G p.(Pro1666=) NC_000005.10:112840591:A:G p.(Pro1666=) NC_000005.10:112840591:A:G Identity +NM_001243202.2:c.894C>T NP_001230131.1:p.Leu298= NC_000009.12:6013657:G:A p.(Leu298=) NC_000009.12:6013657:G:A p.(Leu298=) NC_000009.12:6013657:G:A Identity +NM_001031680.2:c.561C>T NP_001026850.1:p.Thr187= NC_000001.11:24919264:G:A p.(Thr187=) NC_000001.11:24919264:G:A p.(Thr187=) NC_000001.11:24919264:G:A Identity +NM_001127892.2:c.2517G>A NP_001121364.1:p.Gln839= NC_000016.10:51139413:C:T p.(Gln839=) NC_000016.10:51139413:C:T p.(Gln839=) NC_000016.10:51139413:C:T Identity +NM_152744.4:c.4125C>T NP_689957.3:p.Asp1375= NC_000007.14:4130092:C:T p.(Asp1375=) NC_000007.14:4130092:C:T p.(Asp1375=) NC_000007.14:4130092:C:T Identity +NM_003004.3:c.267C>T NP_002995.1:p.Asp89= NC_000017.11:82324717:G:A p.(Asp89=) NC_000017.11:82324717:G:A p.(Asp89=) NC_000017.11:82324717:G:A Identity +NM_001135163.1:c.9G>A NP_001128635.1:p.Pro3= NC_000019.10:49961072:C:T p.(Pro3=) NC_000019.10:49961072:C:T p.(Pro3=) NC_000019.10:49961072:C:T Identity +NM_001303052.2:c.2460C>T NP_001289981.1:p.Pro820= NC_000002.12:1889300:G:A p.(Pro820=) NC_000002.12:1889300:G:A p.(Pro820=) NC_000002.12:1889300:G:A Identity +NM_001352260.2:c.3279C>T NP_001339189.1:p.Ser1093= NC_000019.10:30548897:C:T p.(Ser1093=) NC_000019.10:30548897:C:T p.(Ser1093=) NC_000019.10:30548897:C:T Identity +NM_001130079.3:c.1473G>A NP_001123551.1:p.Lys491= NC_000001.11:112694748:G:A p.(Lys491=) NC_000001.11:112694748:G:A p.(Lys491=) NC_000001.11:112694748:G:A Identity +NM_006985.4:c.870G>A NP_008916.2:p.Ala290= NC_000016.10:14951841:G:A p.(Ala290=) NC_000016.10:14951841:G:A p.(Ala290=) NC_000016.10:14951841:G:A Identity +NM_001098623.2:c.20331C>T NP_001092093.2:p.Gly6777= NC_000001.11:228371108:C:T p.(Gly6777=) NC_000001.11:228371108:C:T p.(Gly6777=) NC_000001.11:228371108:C:T Identity +NM_022817.3:c.1911G>A NP_073728.1:p.Pro637= NC_000002.12:238257075:C:T p.(Pro637=) NC_000002.12:238257075:C:T p.(Pro637=) NC_000002.12:238257075:C:T Identity +NM_001142405.2:c.33C>T NP_001135877.1:p.Gly11= NC_000018.10:12420324:C:T p.(Gly11=) NC_000018.10:12420324:C:T p.(Gly11=) NC_000018.10:12420324:C:T Identity +NM_022716.4:c.600C>T NP_073207.1:p.Ser200= NC_000001.11:170736047:C:T p.(Ser200=) NC_000001.11:170736047:C:T p.(Ser200=) NC_000001.11:170736047:C:T Identity +NM_001184.4:c.7383T>G NP_001175.2:p.Thr2461= NC_000003.12:142459077:A:C p.(Thr2461=) NC_000003.12:142459077:A:C p.(Thr2461=) NC_000003.12:142459077:A:C Identity +NM_001211.6:c.2487A>G NP_001202.5:p.Gln829= NC_000015.10:40212599:A:G p.(Gln829=) NC_000015.10:40212599:A:G p.(Gln829=) NC_000015.10:40212599:A:G Identity +NM_001430.5:c.2394G>A NP_001421.2:p.Arg798= NC_000002.12:46382530:G:A p.(Arg798=) NC_000002.12:46382530:G:A p.(Arg798=) NC_000002.12:46382530:G:A Identity +NM_001127487.2:c.5574T>C NP_001120959.1:p.Gly1858= NC_000007.14:128851458:T:C p.(Gly1858=) NC_000007.14:128851458:T:C p.(Gly1858=) NC_000007.14:128851458:T:C Identity +NM_001290307.3:c.1242A>G NP_001277236.1:p.Lys414= NC_000005.10:138887587:A:G p.(Lys414=) NC_000005.10:138887587:A:G p.(Lys414=) NC_000005.10:138887587:A:G Identity +NM_001290307.3:c.1320C>A NP_001277236.1:p.Ile440= NC_000005.10:138904371:C:A p.(Ile440=) NC_000005.10:138904371:C:A p.(Ile440=) NC_000005.10:138904371:C:A Identity +NM_001324005.1:c.1413C>T NP_001310934.1:p.Pro471= NC_000005.10:138933819:C:T p.(Pro471=) NC_000005.10:138933819:C:T p.(Pro471=) NC_000005.10:138933819:C:T Identity +NM_001999.4:c.1296C>T NP_001990.2:p.Ser432= NC_000005.10:128393303:G:A p.(Ser432=) NC_000005.10:128393303:G:A p.(Ser432=) NC_000005.10:128393303:G:A Identity +NM_001999.4:c.4353T>C NP_001990.2:p.Asp1451= NC_000005.10:128328813:A:G p.(Asp1451=) NC_000005.10:128328813:A:G p.(Asp1451=) NC_000005.10:128328813:A:G Identity +NM_001308093.3:c.432G>C NP_001295022.1:p.Ala144= NC_000008.11:11708743:G:C p.(Ala144=) NC_000008.11:11708743:G:C p.(Ala144=) NC_000008.11:11708743:G:C Identity +NM_001308093.3:c.45C>T NP_001295022.1:p.Pro15= NC_000008.11:11708356:C:T p.(Pro15=) NC_000008.11:11708356:C:T p.(Pro15=) NC_000008.11:11708356:C:T Identity +NM_001105206.3:c.1590G>A NP_001098676.2:p.Val530= NC_000006.12:112165237:C:T p.(Val530=) NC_000006.12:112165237:C:T p.(Val530=) NC_000006.12:112165237:C:T Identity +NM_001105206.3:c.5214A>G NP_001098676.2:p.Arg1738= NC_000006.12:112114187:T:C p.(Arg1738=) NC_000006.12:112114187:T:C p.(Arg1738=) NC_000006.12:112114187:T:C Identity +NM_002354.3:c.393T>G NP_002345.2:p.Thr131= NC_000002.12:47374015:T:G p.(Thr131=) NC_000002.12:47374015:T:G p.(Thr131=) NC_000002.12:47374015:T:G Identity +NM_002432.3:c.342T>C NP_002423.1:p.Pro114= NC_000001.11:158843354:T:C p.(Pro114=) NC_000001.11:158843354:T:C p.(Pro114=) NC_000001.11:158843354:T:C Identity +NM_002471.4:c.204G>T NP_002462.2:p.Thr68= NC_000014.9:23405767:C:A p.(Thr68=) NC_000014.9:23405767:C:A p.(Thr68=) NC_000014.9:23405767:C:A Identity +NM_002471.4:c.4143C>T NP_002462.2:p.Ala1381= NC_000014.9:23388890:G:A p.(Ala1381=) NC_000014.9:23388890:G:A p.(Ala1381=) NC_000014.9:23388890:G:A Identity +NM_001321307.1:c.1464C>T NP_001308236.1:p.Asn488= NC_000011.10:108173519:G:A p.(Asn488=) NC_000011.10:108173519:G:A p.(Asn488=) NC_000011.10:108173519:G:A Identity +NM_001321307.1:c.2487T>C NP_001308236.1:p.Asn829= NC_000011.10:108172496:A:G p.(Asn829=) NC_000011.10:108172496:A:G p.(Asn829=) NC_000011.10:108172496:A:G Identity +NM_001354966.2:c.231G>T NP_001341895.1:p.Gly77= NC_000005.10:147824669:C:A p.(Gly77=) NC_000005.10:147824669:C:A p.(Gly77=) NC_000005.10:147824669:C:A Identity +NM_001354966.2:c.39C>T NP_001341895.1:p.Ala13= NC_000005.10:147831538:G:A p.(Ala13=) NC_000005.10:147831538:G:A p.(Ala13=) NC_000005.10:147831538:G:A Identity +NM_001321307.1:c.3150C>T NP_001308236.1:p.Thr1050= NC_000011.10:108161956:G:A p.(Thr1050=) NC_000011.10:108161956:G:A p.(Thr1050=) NC_000011.10:108161956:G:A Identity +NM_001321307.1:c.3288A>G NP_001308236.1:p.Glu1096= NC_000011.10:108161818:T:C p.(Glu1096=) NC_000011.10:108161818:T:C p.(Glu1096=) NC_000011.10:108161818:T:C Identity +NM_001321307.1:c.3393G>A NP_001308236.1:p.Leu1131= NC_000011.10:108161713:C:T p.(Leu1131=) NC_000011.10:108161713:C:T p.(Leu1131=) NC_000011.10:108161713:C:T Identity +NM_001321307.1:c.816T>C NP_001308236.1:p.Thr272= NC_000011.10:108185404:A:G p.(Thr272=) NC_000011.10:108185404:A:G p.(Thr272=) NC_000011.10:108185404:A:G Identity +NM_001256849.1:c.2025C>A NP_001243778.1:p.Ala675= NC_000019.10:50409536:C:A p.(Ala675=) NC_000019.10:50409536:C:A p.(Ala675=) NC_000019.10:50409536:C:A Identity +NM_002907.4:c.1734del NP_002898.2:p.Leu578_Leu579insTer NC_000012.12:21471031:AA:A p.(Leu579Ter) NC_000012.12:21471031:AA:A p.(Leu579Ter) NC_000012.12:21471031:A: Analogous +NM_001407361.1:c.402C>T NP_001394290.1:p.Ser134= NC_000001.11:17027832:G:A p.(Ser134=) NC_000001.11:17027832:G:A p.(Ser134=) NC_000001.11:17027832:G:A Identity +NM_001007468.3:c.1095G>A NP_001007469.1:p.Arg365= NC_000022.11:23834143:G:A p.(Arg365=) NC_000022.11:23834143:G:A p.(Arg365=) NC_000022.11:23834143:G:A Identity +NM_001256850.1:c.40425T>C NP_001243779.1:p.His13475= NC_000002.12:178621475:A:G p.(His13475=) NC_000002.12:178621475:A:G p.(His13475=) NC_000002.12:178621475:A:G Identity +NM_001256850.1:c.66069A>G NP_001243779.1:p.Thr22023= NC_000002.12:178575139:T:C p.(Thr22023=) NC_000002.12:178575139:T:C p.(Thr22023=) NC_000002.12:178575139:T:C Identity +NM_001256850.1:c.74529T>C NP_001243779.1:p.Pro24843= NC_000002.12:178566679:A:G p.(Pro24843=) NC_000002.12:178566679:A:G p.(Pro24843=) NC_000002.12:178566679:A:G Identity +NM_001256850.1:c.5733_5735dup NP_001243779.1:p.Val1912_Thr1913insVal NC_000002.12:178776128:ACC:ACCACC p.(Val1912dup) NC_000002.12:178776128:ACC:ACCACC p.(Val1912dup) ERR:SPDI Analogous +NM_001142548.2:c.768A>G NP_001136020.1:p.Glu256= NC_000001.11:46261261:A:G p.(Glu256=) NC_000001.11:46261261:A:G p.(Glu256=) NC_000001.11:46261261:A:G Identity +NM_003673.4:c.466C>T NP_003664.1:p.Leu156= NC_000017.11:39666070:C:T p.(Leu156=) NC_000017.11:39666070:C:T p.(Leu156=) NC_000017.11:39666070:C:T Identity +NM_003803.4:c.1278T>C NP_003794.3:p.Cys426= NC_000018.10:3168877:A:G p.(Cys426=) NC_000018.10:3168877:A:G p.(Cys426=) NC_000018.10:3168877:A:G Identity +NM_001294332.2:c.912A>G NP_001281261.1:p.Arg304= NC_000005.10:233636:A:G p.(Arg304=) NC_000005.10:233636:A:G p.(Arg304=) NC_000005.10:233636:A:G Identity +NM_001294332.2:c.1821C>T NP_001281261.1:p.Ala607= NC_000005.10:256389:C:T p.(Ala607=) NC_000005.10:256389:C:T p.(Ala607=) NC_000005.10:256389:C:T Identity +NM_004304.5:c.121C>A NP_004295.2:p.Arg41= NC_000002.12:29920538:G:T p.(Arg41=) NC_000002.12:29920538:G:T p.(Arg41=) NC_000002.12:29920538:G:T Identity +NM_004304.5:c.1773C>T NP_004295.2:p.Ser591= NC_000002.12:29296931:G:A p.(Ser591=) NC_000002.12:29296931:G:A p.(Ser591=) NC_000002.12:29296931:G:A Identity +NM_004304.5:c.2241G>T NP_004295.2:p.Gly747= NC_000002.12:29239793:C:A p.(Gly747=) NC_000002.12:29239793:C:A p.(Gly747=) NC_000002.12:29239793:C:A Identity +NM_001353765.2:c.309C>T NP_001340694.1:p.Ile103= NC_000002.12:29222345:G:A p.(Ile103=) NC_000002.12:29222345:G:A p.(Ile103=) NC_000002.12:29222345:G:A Identity +NM_001353765.2:c.1368G>A NP_001340694.1:p.Lys456= NC_000002.12:29193514:C:T p.(Lys456=) NC_000002.12:29193514:C:T p.(Lys456=) NC_000002.12:29193514:C:T Identity +NM_001406580.1:c.477T>C NP_001393509.1:p.Ser159= NC_000010.11:86900072:T:C p.(Ser159=) NC_000010.11:86900072:T:C p.(Ser159=) NC_000010.11:86900072:T:C Identity +NM_001278616.2:c.480T>C NP_001265545.1:p.Asn160= NC_000002.12:110669479:A:G p.(Asn160=) NC_000002.12:110669479:A:G p.(Asn160=) NC_000002.12:110669479:A:G Identity +NM_001278616.2:c.495T>C NP_001265545.1:p.Ile165= NC_000002.12:110669464:A:G p.(Ile165=) NC_000002.12:110669464:A:G p.(Ile165=) NC_000002.12:110669464:A:G Identity +NM_001317184.2:c.954C>A NP_001304113.1:p.Thr318= NC_000016.10:68811804:C:A p.(Thr318=) NC_000016.10:68811804:C:A p.(Thr318=) NC_000016.10:68811804:C:A Identity +NM_001363813.1:c.1053T>C NP_001350742.1:p.His351= NC_000017.11:65541460:A:G p.(His351=) NC_000017.11:65541460:A:G p.(His351=) NC_000017.11:65541460:A:G Identity +NM_001363813.1:c.1185G>A NP_001350742.1:p.Leu395= NC_000017.11:65538217:C:T p.(Leu395=) NC_000017.11:65538217:C:T p.(Leu395=) NC_000017.11:65538217:C:T Identity +NM_001363813.1:c.1791G>C NP_001350742.1:p.Leu597= NC_000017.11:65536474:C:G p.(Leu597=) NC_000017.11:65536474:C:G p.(Leu597=) NC_000017.11:65536474:C:G Identity +NM_001170634.1:c.261A>G NP_001164105.1:p.Gln87= NC_000016.10:31183930:A:G p.(Gln87=) NC_000016.10:31183930:A:G p.(Gln87=) NC_000016.10:31183930:A:G Identity +NM_005431.2:c.156A>G NP_005422.1:p.Thr52= NC_000007.14:152649328:T:C p.(Thr52=) NC_000007.14:152649328:T:C p.(Thr52=) NC_000007.14:152649328:T:C Identity +NM_005502.4:c.2265C>T NP_005493.2:p.Phe755= NC_000009.12:104827019:G:A p.(Phe755=) NC_000009.12:104827019:G:A p.(Phe755=) NC_000009.12:104827019:G:A Identity +NM_005502.4:c.4356G>C NP_005493.2:p.Gly1452= NC_000009.12:104806348:C:G p.(Gly1452=) NC_000009.12:104806348:C:G p.(Gly1452=) NC_000009.12:104806348:C:G Identity +NM_005585.5:c.198G>A NP_005576.3:p.Arg66= NC_000015.10:66703455:G:A p.(Arg66=) NC_000015.10:66703455:G:A p.(Arg66=) NC_000015.10:66703455:G:A Identity +NM_005585.5:c.294C>G NP_005576.3:p.Ala98= NC_000015.10:66703551:C:G p.(Ala98=) NC_000015.10:66703551:C:G p.(Ala98=) NC_000015.10:66703551:C:G Identity +NM_005732.4:c.2472T>A NP_005723.2:p.Thr824= NC_000005.10:132603993:T:A p.(Thr824=) NC_000005.10:132603993:T:A p.(Thr824=) NC_000005.10:132603993:T:A Identity +NM_005751.5:c.1185A>G NP_005742.4:p.Lys395= NC_000007.14:92001101:A:G p.(Lys395=) NC_000007.14:92001101:A:G p.(Lys395=) NC_000007.14:92001101:A:G Identity +NM_000059.4:c.10164A>T NP_000050.3:p.Thr3388= NC_000013.11:32398676:A:T p.(Thr3388=) NC_000013.11:32398676:A:T p.(Thr3388=) NC_000013.11:32398676:A:T Identity +NM_005751.5:c.5562T>G NP_005742.4:p.Val1854= NC_000007.14:92052918:T:G p.(Val1854=) NC_000007.14:92052918:T:G p.(Val1854=) NC_000007.14:92052918:T:G Identity +NM_001379277.1:c.4011G>A NP_001366206.1:p.Leu1337= NC_000007.14:92093103:G:A p.(Leu1337=) NC_000007.14:92093103:G:A p.(Leu1337=) NC_000007.14:92093103:G:A Identity +NM_005911.6:c.1068C>T NP_005902.1:p.Arg356= NC_000002.12:85543016:C:T p.(Arg356=) NC_000002.12:85543016:C:T p.(Arg356=) NC_000002.12:85543016:C:T Identity +NM_006218.4:c.105A>G NP_006209.2:p.Glu35= NC_000003.12:179198929:A:G p.(Glu35=) NC_000003.12:179198929:A:G p.(Glu35=) NC_000003.12:179198929:A:G Identity +NM_006218.4:c.201T>C NP_006209.2:p.Ser67= NC_000003.12:179199025:T:C p.(Ser67=) NC_000003.12:179199025:T:C p.(Ser67=) NC_000003.12:179199025:T:C Identity +NM_006231.4:c.321G>C NP_006222.2:p.Ala107= NC_000012.12:132680186:C:G p.(Ala107=) NC_000012.12:132680186:C:G p.(Ala107=) NC_000012.12:132680186:C:G Identity +NM_000059.4:c.1632T>C NP_000050.3:p.Thr544= NC_000013.11:32333109:T:C p.(Thr544=) NC_000013.11:32333109:T:C p.(Thr544=) NC_000013.11:32333109:T:C Identity +NM_006393.3:c.297T>C NP_006384.1:p.Asn99= NC_000010.11:20888168:A:G p.(Asn99=) NC_000010.11:20888168:A:G p.(Asn99=) NC_000010.11:20888168:A:G Identity +NM_006393.3:c.561G>A NP_006384.1:p.Gln187= NC_000010.11:20869760:C:T p.(Gln187=) NC_000010.11:20869760:C:T p.(Gln187=) NC_000010.11:20869760:C:T Identity +NM_001081640.2:c.1314C>A NP_001075109.1:p.Leu438= NC_000008.11:47935864:G:T p.(Leu438=) NC_000008.11:47935864:G:T p.(Leu438=) NC_000008.11:47935864:G:T Identity +NM_001293306.2:c.3057C>T NP_001280235.2:p.Ser1019= NC_000003.12:38726635:G:A p.(Ser1019=) NC_000003.12:38726635:G:A p.(Ser1019=) NC_000003.12:38726635:G:A Identity +NM_001081640.2:c.1965G>A NP_001075109.1:p.Leu655= NC_000008.11:47929939:C:T p.(Leu655=) NC_000008.11:47929939:C:T p.(Leu655=) NC_000008.11:47929939:C:T Identity +NM_001081640.2:c.3486A>T NP_001075109.1:p.Ser1162= NC_000008.11:47897272:T:A p.(Ser1162=) NC_000008.11:47897272:T:A p.(Ser1162=) NC_000008.11:47897272:T:A Identity +NM_001081640.2:c.639A>G NP_001075109.1:p.Arg213= NC_000008.11:47953701:T:C p.(Arg213=) NC_000008.11:47953701:T:C p.(Arg213=) NC_000008.11:47953701:T:C Identity +NM_001411020.1:c.1518T>A NP_001397949.1:p.Leu506= NC_000014.9:50159665:A:T p.(Leu506=) NC_000014.9:50159665:A:T p.(Leu506=) NC_000014.9:50159665:A:T Identity +NM_001304420.3:c.1779G>A NP_001291349.1:p.Lys593= NC_000003.12:57912510:G:A p.(Lys593=) NC_000003.12:57912510:G:A p.(Lys593=) NC_000003.12:57912510:G:A Identity +NM_007272.3:c.531G>C NP_009203.2:p.Leu177= NC_000001.11:15444642:G:C p.(Leu177=) NC_000001.11:15444642:G:C p.(Leu177=) NC_000001.11:15444642:G:C Identity +NM_001407571.1:c.4353C>T NP_001394500.1:p.Tyr1451= NC_000017.11:43074439:G:A p.(Tyr1451=) NC_000017.11:43074439:G:A p.(Tyr1451=) NC_000017.11:43074439:G:A Identity +NM_001127384.3:c.399G>T NP_001120856.1:p.Thr133= NC_000010.11:67539562:C:A p.(Thr133=) NC_000010.11:67539562:C:A p.(Thr133=) NC_000010.11:67539562:C:A Identity +NM_001191322.2:c.318T>C NP_001178251.1:p.Cys106= NC_000015.10:32731217:T:C p.(Cys106=) NC_000015.10:32731217:T:C p.(Cys106=) NC_000015.10:32731217:T:C Identity +NM_001365951.3:c.1440A>G NP_001352880.1:p.Ser480= NC_000001.11:10291086:A:G p.(Ser480=) NC_000001.11:10291086:A:G p.(Ser480=) NC_000001.11:10291086:A:G Identity +NM_001365951.3:c.1881T>C NP_001352880.1:p.Gly627= NC_000001.11:10296915:T:C p.(Gly627=) NC_000001.11:10296915:T:C p.(Gly627=) NC_000001.11:10296915:T:C Identity +NM_015141.4:c.804C>T NP_055956.1:p.Tyr268= NC_000003.12:32159060:C:T p.(Tyr268=) NC_000003.12:32159060:C:T p.(Tyr268=) NC_000003.12:32159060:C:T Identity +NM_015627.3:c.822T>A NP_056442.2:p.Thr274= NC_000001.11:25566886:T:A p.(Thr274=) NC_000001.11:25566886:T:A p.(Thr274=) NC_000001.11:25566886:T:A Identity +NM_001166108.2:c.1869T>A NP_001159580.1:p.Ile623= NC_000004.12:168711827:T:A p.(Ile623=) NC_000004.12:168711827:T:A p.(Ile623=) NC_000004.12:168711827:T:A Identity +NM_001166108.2:c.2391G>A NP_001159580.1:p.Glu797= NC_000004.12:168898632:G:A p.(Glu797=) NC_000004.12:168898632:G:A p.(Glu797=) NC_000004.12:168898632:G:A Identity +NM_001195227.2:c.1699C>T NP_001182156.1:p.Leu567= NC_000019.10:49183167:C:T p.(Leu567=) NC_000019.10:49183167:C:T p.(Leu567=) NC_000019.10:49183167:C:T Identity +NM_001321281.2:c.2037G>C NP_001308210.1:p.Leu679= NC_000019.10:49196610:G:C p.(Leu679=) NC_000019.10:49196610:G:C p.(Leu679=) NC_000019.10:49196610:G:C Identity +NM_001193304.3:c.537G>C NP_001180233.1:p.Leu179= NC_000002.12:96253987:C:G p.(Leu179=) NC_000002.12:96253987:C:G p.(Leu179=) NC_000002.12:96253987:C:G Identity +NM_018975.4:c.144C>T NP_061848.2:p.His48= NC_000016.10:75648025:C:T p.(His48=) NC_000016.10:75648025:C:T p.(His48=) NC_000016.10:75648025:C:T Identity +NM_001365276.2:c.1125G>A NP_001352205.1:p.Arg375= NC_000006.12:32096727:C:T p.(Arg375=) NC_000006.12:32096727:C:T p.(Arg375=) NC_000006.12:32096727:C:T Identity +NM_020778.5:c.3492G>A NP_065829.4:p.Arg1164= NC_000015.10:84858229:G:A p.(Arg1164=) NC_000015.10:84858229:G:A p.(Arg1164=) NC_000015.10:84858229:G:A Identity +NM_001098623.2:c.7551C>T NP_001092093.2:p.Ser2517= NC_000001.11:228279974:C:T p.(Ser2517=) NC_000001.11:228279974:C:T p.(Ser2517=) NC_000001.11:228279974:C:T Identity +NM_001377260.1:c.1020A>G NP_001364189.1:p.Gly340= NC_000001.11:231370689:T:C p.(Gly340=) NC_000001.11:231370689:T:C p.(Gly340=) NC_000001.11:231370689:T:C Identity +NM_001377260.1:c.705C>T NP_001364189.1:p.Phe235= NC_000001.11:231421183:G:A p.(Phe235=) NC_000001.11:231421183:G:A p.(Phe235=) NC_000001.11:231421183:G:A Identity +NM_001357321.2:c.1206C>A NP_001344250.1:p.Ile402= NC_000002.12:43872303:C:A p.(Ile402=) NC_000002.12:43872303:C:A p.(Ile402=) NC_000002.12:43872303:C:A Identity +NM_001357321.2:c.630G>T NP_001344250.1:p.Val210= NC_000002.12:43852421:G:T p.(Val210=) NC_000002.12:43852421:G:T p.(Val210=) NC_000002.12:43852421:G:T Identity +NM_024642.5:c.1125G>A NP_078918.3:p.Lys375= NC_000009.12:98837060:G:A p.(Lys375=) NC_000009.12:98837060:G:A p.(Lys375=) NC_000009.12:98837060:G:A Identity +NM_000059.4:c.657T>C NP_000050.3:p.Thr219= NC_000013.11:32329467:T:C p.(Thr219=) NC_000013.11:32329467:T:C p.(Thr219=) NC_000013.11:32329467:T:C Identity +NM_001098623.2:c.12816G>A NP_001092093.2:p.Arg4272= NC_000001.11:228309174:G:A p.(Arg4272=) NC_000001.11:228309174:G:A p.(Arg4272=) NC_000001.11:228309174:G:A Identity +NM_001098623.2:c.13023G>A NP_001092093.2:p.Thr4341= NC_000001.11:228315856:G:A p.(Thr4341=) NC_000001.11:228315856:G:A p.(Thr4341=) NC_000001.11:228315856:G:A Identity +NM_001098623.2:c.489C>T NP_001092093.2:p.Leu163= NC_000001.11:228212271:C:T p.(Leu163=) NC_000001.11:228212271:C:T p.(Leu163=) NC_000001.11:228212271:C:T Identity +NM_052947.4:c.3918C>T NP_443179.3:p.Ala1306= NC_000018.10:58536268:G:A p.(Ala1306=) NC_000018.10:58536268:G:A p.(Ala1306=) NC_000018.10:58536268:G:A Identity +NM_052947.4:c.6204G>A NP_443179.3:p.Val2068= NC_000018.10:58503973:C:T p.(Val2068=) NC_000018.10:58503973:C:T p.(Val2068=) NC_000018.10:58503973:C:T Identity +NM_000244.4:c.1644A>C NP_000235.3:p.Ser548= NC_000011.10:64804537:T:G p.(Ser548=) NC_000011.10:64804537:T:G p.(Ser548=) NC_000011.10:64804537:T:G Identity +NM_001353229.2:c.1581G>A NP_001340158.1:p.Glu527= NC_000017.11:17214995:C:T p.(Glu527=) NC_000017.11:17214995:C:T p.(Glu527=) NC_000017.11:17214995:C:T Identity +NM_001406994.1:c.303C>T NP_001393923.1:p.Thr101= NC_000001.11:156135890:C:T p.(Thr101=) NC_000001.11:156135890:C:T p.(Thr101=) NC_000001.11:156135890:C:T Identity +NM_001195573.1:c.5301T>C NP_001182502.1:p.His1767= NC_000014.9:95093950:A:G p.(His1767=) NC_000014.9:95093950:A:G p.(His1767=) NC_000014.9:95093950:A:G Identity +NM_198578.4:c.1893G>A NP_940980.4:p.Leu631= NC_000012.12:40274944:G:A p.(Leu631=) NC_000012.12:40274944:G:A p.(Leu631=) NC_000012.12:40274944:G:A Identity +NM_198578.4:c.2448T>G NP_940980.4:p.Ser816= NC_000012.12:40284080:T:G p.(Ser816=) NC_000012.12:40284080:T:G p.(Ser816=) NC_000012.12:40284080:T:G Identity +NM_198578.4:c.2811G>T NP_940980.4:p.Gly937= NC_000012.12:40294846:G:T p.(Gly937=) NC_000012.12:40294846:G:T p.(Gly937=) NC_000012.12:40294846:G:T Identity +NM_198578.4:c.2874A>C NP_940980.4:p.Ser958= NC_000012.12:40294909:A:C p.(Ser958=) NC_000012.12:40294909:A:C p.(Ser958=) NC_000012.12:40294909:A:C Identity +NM_198578.4:c.4764A>G NP_940980.4:p.Pro1588= NC_000012.12:40315236:A:G p.(Pro1588=) NC_000012.12:40315236:A:G p.(Pro1588=) NC_000012.12:40315236:A:G Identity +NM_198578.4:c.5211C>T NP_940980.4:p.Gly1737= NC_000012.12:40322074:C:T p.(Gly1737=) NC_000012.12:40322074:C:T p.(Gly1737=) NC_000012.12:40322074:C:T Identity +NM_198578.4:c.6441T>A NP_940980.4:p.Pro2147= NC_000012.12:40351597:T:A p.(Pro2147=) NC_000012.12:40351597:T:A p.(Pro2147=) NC_000012.12:40351597:T:A Identity +NM_199420.4:c.237A>G NP_955452.3:p.Ala79= NC_000003.12:121544832:T:C p.(Ala79=) NC_000003.12:121544832:T:C p.(Ala79=) NC_000003.12:121544832:T:C Identity +NM_199420.4:c.2386C>T NP_955452.3:p.Leu796= NC_000003.12:121493613:G:A p.(Leu796=) NC_000003.12:121493613:G:A p.(Leu796=) NC_000003.12:121493613:G:A Identity +NM_199420.4:c.5145T>C NP_955452.3:p.Asp1715= NC_000003.12:121487785:A:G p.(Asp1715=) NC_000003.12:121487785:A:G p.(Asp1715=) NC_000003.12:121487785:A:G Identity +NM_199420.4:c.6216T>C NP_955452.3:p.Val2072= NC_000003.12:121476728:A:G p.(Val2072=) NC_000003.12:121476728:A:G p.(Val2072=) NC_000003.12:121476728:A:G Identity +NM_000110.4:c.21G>A NP_000101.2:p.Lys7= NC_000001.11:97920901:C:T p.(Lys7=) NC_000001.11:97920901:C:T p.(Lys7=) NC_000001.11:97920901:C:T Identity +NM_000110.4:c.2421T>C NP_000101.2:p.His807= NC_000001.11:97234872:A:G p.(His807=) NC_000001.11:97234872:A:G p.(His807=) NC_000001.11:97234872:A:G Identity +NM_000138.5:c.225T>A NP_000129.3:p.Pro75= NC_000015.10:48613031:A:T p.(Pro75=) NC_000015.10:48613031:A:T p.(Pro75=) NC_000015.10:48613031:A:T Identity +NM_000214.3:c.807G>A NP_000205.1:p.Pro269= NC_000020.11:10652546:C:T p.(Pro269=) NC_000020.11:10652546:C:T p.(Pro269=) NC_000020.11:10652546:C:T Identity +NM_000218.3:c.1965C>T NP_000209.2:p.Pro655= NC_000011.10:2847936:C:T p.(Pro655=) NC_000011.10:2847936:C:T p.(Pro655=) NC_000011.10:2847936:C:T Identity +NM_000384.3:c.10254G>A NP_000375.3:p.Thr3418= NC_000002.12:21006613:C:T p.(Thr3418=) NC_000002.12:21006613:C:T p.(Thr3418=) NC_000002.12:21006613:C:T Identity +NM_000384.3:c.9870C>A NP_000375.3:p.Val3290= NC_000002.12:21006997:G:T p.(Val3290=) NC_000002.12:21006997:G:T p.(Val3290=) NC_000002.12:21006997:G:T Identity +NM_000388.4:c.1176A>G NP_000379.3:p.Arg392= NC_000003.12:122262210:A:G p.(Arg392=) NC_000003.12:122262210:A:G p.(Arg392=) NC_000003.12:122262210:A:G Identity +NM_000388.4:c.1848C>T NP_000379.3:p.Leu616= NC_000003.12:122283801:C:T p.(Leu616=) NC_000003.12:122283801:C:T p.(Leu616=) NC_000003.12:122283801:C:T Identity +NM_000400.4:c.1296C>T NP_000391.1:p.Ile432= NC_000019.10:45357640:G:A p.(Ile432=) NC_000019.10:45357640:G:A p.(Ile432=) NC_000019.10:45357640:G:A Identity +NM_000041.4:c.84G>A NP_000032.1:p.Pro28= NC_000019.10:44907799:G:A p.(Pro28=) NC_000019.10:44907799:G:A p.(Pro28=) NC_000019.10:44907799:G:A Identity +NM_000020.3:c.1011G>A NP_000011.2:p.Leu337= NC_000012.12:51915462:G:A p.(Leu337=) NC_000012.12:51915462:G:A p.(Leu337=) NC_000012.12:51915462:G:A Identity +NM_000548.5:c.4572A>T NP_000539.2:p.Ser1524= NC_000016.10:2085231:A:T p.(Ser1524=) NC_000016.10:2085231:A:T p.(Ser1524=) NC_000016.10:2085231:A:T Identity +NM_000551.4:c.54A>G NP_000542.1:p.Ala18= NC_000003.12:10141900:A:G p.(Ala18=) NC_000003.12:10141900:A:G p.(Ala18=) NC_000003.12:10141900:A:G Identity +NM_000722.4:c.2913C>T NP_000713.2:p.Phe971= NC_000007.14:81961946:G:A p.(Phe971=) NC_000007.14:81961946:G:A p.(Phe971=) NC_000007.14:81961946:G:A Identity +NM_000722.4:c.3063A>G NP_000713.2:p.Gln1021= NC_000007.14:81959732:T:C p.(Gln1021=) NC_000007.14:81959732:T:C p.(Gln1021=) NC_000007.14:81959732:T:C Identity +NM_000784.4:c.37C>T NP_000775.1:p.Leu13= NC_000002.12:218782218:C:T p.(Leu13=) NC_000002.12:218782218:C:T p.(Leu13=) NC_000002.12:218782218:C:T Identity +NM_001011.4:c.69C>T NP_001002.1:p.Ile23= NC_000002.12:3575677:C:T p.(Ile23=) NC_000002.12:3575677:C:T p.(Ile23=) NC_000002.12:3575677:C:T Identity +NM_001202470.3:c.60C>G NP_001189399.1:p.Val20= NC_000006.12:34425161:G:C p.(Val20=) NC_000006.12:34425161:G:C p.(Val20=) NC_000006.12:34425161:G:C Identity +NM_001023.4:c.285T>C NP_001014.1:p.Ser95= NC_000008.11:56073164:A:G p.(Ser95=) NC_000008.11:56073164:A:G p.(Ser95=) NC_000008.11:56073164:A:G Identity +NM_001029.5:c.99C>T NP_001020.2:p.Asp33= NC_000012.12:56042519:C:T p.(Asp33=) NC_000012.12:56042519:C:T p.(Asp33=) NC_000012.12:56042519:C:T Identity +NM_001040108.2:c.2914T>C NP_001035197.1:p.Leu972= NC_000014.9:75046741:A:G p.(Leu972=) NC_000014.9:75046741:A:G p.(Leu972=) NC_000014.9:75046741:A:G Identity +NM_001040108.2:c.3606T>C NP_001035197.1:p.Cys1202= NC_000014.9:75038376:A:G p.(Cys1202=) NC_000014.9:75038376:A:G p.(Cys1202=) NC_000014.9:75038376:A:G Identity +NM_001077653.2:c.69C>T NP_001071121.1:p.Leu23= NC_000007.14:35253551:G:A p.(Leu23=) NC_000007.14:35253551:G:A p.(Leu23=) NC_000007.14:35253551:G:A Identity +NM_001367624.2:c.8817C>G NP_001354553.1:p.Leu2939= NC_000016.10:88436286:C:G p.(Leu2939=) NC_000016.10:88436286:C:G p.(Leu2939=) NC_000016.10:88436286:C:G Identity +NM_000245.4:c.2358T>C NP_000236.2:p.Phe786= NC_000007.14:116759483:T:C p.(Phe786=) NC_000007.14:116759483:T:C p.(Phe786=) NC_000007.14:116759483:T:C Identity +NM_001128844.3:c.1377G>A NP_001122316.1:p.Gln459= NC_000019.10:10991280:G:A p.(Gln459=) NC_000019.10:10991280:G:A p.(Gln459=) NC_000019.10:10991280:G:A Identity +NM_001164266.1:c.2875C>T NP_001157738.1:p.Leu959= NC_000011.10:65540262:G:A p.(Leu959=) NC_000011.10:65540262:G:A p.(Leu959=) NC_000011.10:65540262:G:A Identity +NM_005677.4:c.1228C>A NP_005668.2:p.Arg410= NC_000003.12:15453898:G:T p.(Arg410=) NC_000003.12:15453898:G:T p.(Arg410=) NC_000003.12:15453898:G:T Identity +NM_003482.4:c.7857T>G NP_003473.3:p.Pro2619= NC_000012.12:49039912:A:C p.(Pro2619=) NC_000012.12:49039912:A:C p.(Pro2619=) NC_000012.12:49039912:A:C Identity +NM_000152.5:c.1819_1836del NP_000143.2:p.Gly607_His612del NC_000017.11:80112635:GGCCACGGCCGATACGCCGGCCAC:GGCCAC p.(Gly607_His612del) NC_000017.11:80112635:GGCCACGGCCGATACGCCGGCCAC:GGCCAC p.(Gly607_His612del) NC_000017.11:80112641:GGCCGATACGCCGGCCAC: Identity +NM_001289396.2:c.4772G>T NP_001276325.1:p.Ter1591Leu NC_000009.12:2192737:G:T p.(Ter1591LeuextTer28) NC_000009.12:2192737:G:T p.(Ter1591LeuextTer28) NC_000009.12:2192737:G:T Analogous +NM_006767.4:c.2448G>T NP_006758.2:p.Leu816= NC_000022.11:20997272:G:T p.(Leu816=) NC_000022.11:20997272:G:T p.(Leu816=) NC_000022.11:20997272:G:T Identity +NM_000920.4:c.2217_2222del NP_000911.2:p.Cys739_Lys741delinsTrp NC_000011.10:66851040:TTGATG: p.(Cys739_Lys741delinsTrp) NC_000011.10:66851040:TTGATG: p.(Cys739_Lys741delinsTrp) NC_000011.10:66851040:TTGATG: Identity +NM_000053.4:c.2415del NP_000044.2:p.Val805_Val806insTer NC_000013.11:51957547:AA:A p.(Val806Ter) NC_000013.11:51957547:AA:A p.(Val806Ter) NC_000013.11:51957547:A: Analogous +NM_001317990.2:c.1545C>A NP_001304919.1:p.Thr515= NC_000019.10:4047961:G:T p.(Thr515=) NC_000019.10:4047961:G:T p.(Thr515=) NC_000019.10:4047961:G:T Identity +NM_001142800.2:c.5886T>C NP_001136272.1:p.Thr1962= NC_000006.12:64436214:A:G p.(Thr1962=) NC_000006.12:64436214:A:G p.(Thr1962=) NC_000006.12:64436214:A:G Identity +NM_001363823.2:c.855T>C NP_001350752.1:p.Pro285= NC_000002.12:32114812:T:C p.(Pro285=) NC_000002.12:32114812:T:C p.(Pro285=) NC_000002.12:32114812:T:C Identity +NM_001330384.2:c.468C>T NP_001317313.1:p.Leu156= NC_000019.10:15267506:G:A p.(Leu156=) NC_000019.10:15267506:G:A p.(Leu156=) NC_000019.10:15267506:G:A Identity +NM_052854.4:c.1467C>T NP_443086.1:p.Asp489= NC_000011.10:46320471:C:T p.(Asp489=) NC_000011.10:46320471:C:T p.(Asp489=) NC_000011.10:46320471:C:T Identity +NM_003106.4:c.378G>A NP_003097.1:p.Thr126= NC_000003.12:181712737:G:A p.(Thr126=) NC_000003.12:181712737:G:A p.(Thr126=) NC_000003.12:181712737:G:A Identity +NM_000038.6:c.8445G>A NP_000029.2:p.Lys2815= NC_000005.10:112844038:G:A p.(Lys2815=) NC_000005.10:112844038:G:A p.(Lys2815=) NC_000005.10:112844038:G:A Identity +NM_000038.6:c.6339T>C NP_000029.2:p.Ser2113= NC_000005.10:112841932:T:C p.(Ser2113=) NC_000005.10:112841932:T:C p.(Ser2113=) NC_000005.10:112841932:T:C Identity +NM_000051.4:c.2463T>C NP_000042.3:p.Ser821= NC_000011.10:108259071:T:C p.(Ser821=) NC_000011.10:108259071:T:C p.(Ser821=) NC_000011.10:108259071:T:C Identity +NM_000051.4:c.2298G>A NP_000042.3:p.Lys766= NC_000011.10:108257527:G:A p.(Lys766=) NC_000011.10:108257527:G:A p.(Lys766=) NC_000011.10:108257527:G:A Identity +NM_000038.6:c.5844T>C NP_000029.2:p.Asp1948= NC_000005.10:112841437:T:C p.(Asp1948=) NC_000005.10:112841437:T:C p.(Asp1948=) NC_000005.10:112841437:T:C Identity +NM_000051.4:c.2904A>G NP_000042.3:p.Glu968= NC_000011.10:108271128:A:G p.(Glu968=) NC_000011.10:108271128:A:G p.(Glu968=) NC_000011.10:108271128:A:G Identity +NM_000051.4:c.537A>G NP_000042.3:p.Ser179= NC_000011.10:108243992:A:G p.(Ser179=) NC_000011.10:108243992:A:G p.(Ser179=) NC_000011.10:108243992:A:G Identity +NM_000038.6:c.8046G>A NP_000029.2:p.Val2682= NC_000005.10:112843639:G:A p.(Val2682=) NC_000005.10:112843639:G:A p.(Val2682=) NC_000005.10:112843639:G:A Identity +NM_000038.6:c.7360A>C NP_000029.2:p.Arg2454= NC_000005.10:112842953:A:C p.(Arg2454=) NC_000005.10:112842953:A:C p.(Arg2454=) NC_000005.10:112842953:A:C Identity +NM_000051.4:c.2823C>G NP_000042.3:p.Ser941= NC_000011.10:108268593:C:G p.(Ser941=) NC_000011.10:108268593:C:G p.(Ser941=) NC_000011.10:108268593:C:G Identity +NM_000051.4:c.4029T>A NP_000042.3:p.Ile1343= NC_000011.10:108287634:T:A p.(Ile1343=) NC_000011.10:108287634:T:A p.(Ile1343=) NC_000011.10:108287634:T:A Identity +NM_000051.4:c.1461T>C NP_000042.3:p.Ile487= NC_000011.10:108250925:T:C p.(Ile487=) NC_000011.10:108250925:T:C p.(Ile487=) NC_000011.10:108250925:T:C Identity +NM_000038.6:c.6501T>A NP_000029.2:p.Ile2167= NC_000005.10:112842094:T:A p.(Ile2167=) NC_000005.10:112842094:T:A p.(Ile2167=) NC_000005.10:112842094:T:A Identity +NM_000051.4:c.4113T>C NP_000042.3:p.Asp1371= NC_000011.10:108288979:T:C p.(Asp1371=) NC_000011.10:108288979:T:C p.(Asp1371=) NC_000011.10:108288979:T:C Identity +NM_000051.4:c.3456T>C NP_000042.3:p.Ser1152= NC_000011.10:108281047:T:C p.(Ser1152=) NC_000011.10:108281047:T:C p.(Ser1152=) NC_000011.10:108281047:T:C Identity +NM_000038.6:c.8499C>A NP_000029.2:p.Arg2833= NC_000005.10:112844092:C:A p.(Arg2833=) NC_000005.10:112844092:C:A p.(Arg2833=) NC_000005.10:112844092:C:A Identity +NM_001022.4:c.24_31dup NP_001013.1:p.Gln11delinsProTer NC_000019.10:41860797:CGTGAACC:CGTGAACCCGTGAACC p.(Gln11ProfsTer2) NC_000019.10:41860797:CGTGAACC:CGTGAACCCGTGAACC p.(Gln11ProfsTer2) ERR:SPDI Analogous +NM_000533.5:c.834A>T NP_000524.3:p.Ter278Cys NC_000023.11:103790597:A:T p.(Ter278CysextTer14) NC_000023.11:103790597:A:T p.(Ter278CysextTer14) NC_000023.11:103790597:A:T Analogous +NM_001410772.1:c.1437T>G NP_001397701.1:p.Ser479= NC_000003.12:52403653:A:C p.(Ser479=) NC_000003.12:52403653:A:C p.(Ser479=) NC_000003.12:52403653:A:C Identity +NM_000465.4:c.873T>C NP_000456.2:p.Thr291= NC_000002.12:214781000:A:G p.(Thr291=) NC_000002.12:214781000:A:G p.(Thr291=) NC_000002.12:214781000:A:G Identity +NM_000057.4:c.3297T>C NP_000048.1:p.Asn1099= NC_000015.10:90798275:T:C p.(Asn1099=) NC_000015.10:90798275:T:C p.(Asn1099=) NC_000015.10:90798275:T:C Identity +NM_002471.4:c.4725G>A NP_002462.2:p.Glu1575= NC_000014.9:23386548:C:T p.(Glu1575=) NC_000014.9:23386548:C:T p.(Glu1575=) NC_000014.9:23386548:C:T Identity +NM_000268.4:c.474C>T NP_000259.1:p.His158= NC_000022.11:29654682:C:T p.(His158=) NC_000022.11:29654682:C:T p.(His158=) NC_000022.11:29654682:C:T Identity +NM_001347827.2:c.1983G>A NP_001334756.1:p.Leu661= NC_000004.12:54277986:G:A p.(Leu661=) NC_000004.12:54277986:G:A p.(Leu661=) NC_000004.12:54277986:G:A Identity +NM_006231.4:c.5604C>T NP_006222.2:p.Phe1868= NC_000012.12:132638087:G:A p.(Phe1868=) NC_000012.12:132638087:G:A p.(Phe1868=) NC_000012.12:132638087:G:A Identity +NM_000321.3:c.1539T>A NP_000312.2:p.Ser513= NC_000013.11:48381286:T:A p.(Ser513=) NC_000013.11:48381286:T:A p.(Ser513=) NC_000013.11:48381286:T:A Identity +NM_001406743.1:c.321G>A NP_001393672.1:p.Glu107= NC_000010.11:43100705:G:A p.(Glu107=) NC_000010.11:43100705:G:A p.(Glu107=) NC_000010.11:43100705:G:A Identity +NM_001406743.1:c.543C>T NP_001393672.1:p.Pro181= NC_000010.11:43102546:C:T p.(Pro181=) NC_000010.11:43102546:C:T p.(Pro181=) NC_000010.11:43102546:C:T Identity +NM_001128844.3:c.4506C>G NP_001122316.1:p.Arg1502= NC_000019.10:11058335:C:G p.(Arg1502=) NC_000019.10:11058335:C:G p.(Arg1502=) NC_000019.10:11058335:C:G Identity +NM_001178133.2:c.573C>A NP_001171604.1:p.Pro191= NC_000010.11:102592699:C:A p.(Pro191=) NC_000010.11:102592699:C:A p.(Pro191=) NC_000010.11:102592699:C:A Identity +NM_000051.4:c.3147_3153delinsTTGCATTTTTTTA NP_000042.3:p.Leu1049_Glu1051delinsPheCysIlePheLeu NC_000011.10:108272600:GCTTGAG:TTGCATTTTTTTA p.(Glu1051_Ala1052delinsCysIlePheLeu) NC_000011.10:108272600:GCTTGAGG:GTTGCATTTTTTTA p.(Leu1049_Glu1051delinsPheCysIlePheLeu) NC_000011.10:108272600:GCTTGAG:TTGCATTTTTTTA Different +NM_000546.6:c.412_417dup NP_000537.3:p.Lys139_Thr140insAlaLys NC_000017.11:7675194:CTTGGCC:CTTGGCCTTGGCC p.(Ala138_Lys139dup) NC_000017.11:7675194:CTTGGCC:CTTGGCCTTGGCC p.(Ala138_Lys139dup) ERR:SPDI Analogous +NM_001126116.2:c.165T>G NP_001119588.1:p.Gly55= NC_000017.11:7674969:A:C p.(Gly55=) NC_000017.11:7674969:A:C p.(Gly55=) NC_000017.11:7674969:A:C Identity +NM_001406609.1:c.400T>C NP_001393538.1:p.Leu134= NC_000009.12:132923455:A:G p.(Leu134=) NC_000009.12:132923455:A:G p.(Leu134=) NC_000009.12:132923455:A:G Identity +NM_000368.5:c.2139C>T NP_000359.1:p.Ala713= NC_000009.12:132903719:G:A p.(Ala713=) NC_000009.12:132903719:G:A p.(Ala713=) NC_000009.12:132903719:G:A Identity +NM_005431.2:c.42C>T NP_005422.1:p.Leu14= NC_000007.14:152660779:G:A p.(Leu14=) NC_000007.14:152660779:G:A p.(Leu14=) NC_000007.14:152660779:G:A Identity +NM_001363813.1:c.45C>T NP_001350742.1:p.Ser15= NC_000017.11:65558575:G:A p.(Ser15=) NC_000017.11:65558575:G:A p.(Ser15=) NC_000017.11:65558575:G:A Identity +NM_001122606.1:c.789C>T NP_001116078.1:p.Gly263= NC_000023.11:120446379:G:A p.(Gly263=) NC_000023.11:120446379:G:A p.(Gly263=) NC_000023.11:120446379:G:A Identity +NM_001453.3:c.702C>G NP_001444.2:p.Pro234= NC_000006.12:1611146:C:G p.(Pro234=) NC_000006.12:1611146:C:G p.(Pro234=) NC_000006.12:1611146:C:G Identity +NM_001079872.2:c.1107A>G NP_001073341.1:p.Gln369= NC_000023.11:120544179:T:C p.(Gln369=) NC_000023.11:120544179:T:C p.(Gln369=) NC_000023.11:120544179:T:C Identity +NM_001270476.2:c.117_152del NP_001257405.1:p.Gly40_Thr51del NC_000006.12:43007237:CCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCAC:CCCAC p.(Gly40_Thr51del) NC_000006.12:43007237:CCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCAC:CCCAC p.(Gly40_Thr51del) NC_000006.12:43007242:AGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCAC: Identity +NM_001413184.1:c.1273_1274dup NP_001400113.1:p.Leu425_Val426insTer NC_000008.11:67276038:AGA:AGAGA p.(Val426Ter) NC_000008.11:67276038:AGA:AGAGA p.(Val426Ter) ERR:SPDI Analogous +NM_000834.5:c.1937_1942dup NP_000825.2:p.Thr647_Ala648insAspThr NC_000012.12:13608670:CAGTGT:CAGTGTCAGTGT p.(Thr647_Ala648insAspThr) NC_000012.12:13608670:CAGTGT:CAGTGTCAGTGT p.(Thr647_Ala648insAspThr) ERR:SPDI Identity +NM_017617.5:c.1896G>T NP_060087.3:p.Gly632= NC_000009.12:136515489:C:A p.(Gly632=) NC_000009.12:136515489:C:A p.(Gly632=) NC_000009.12:136515489:C:A Identity +NM_001145527.2:c.73C>T NP_001138999.1:p.Leu25= NC_000009.12:137711017:C:T p.(Leu25=) NC_000009.12:137711017:C:T p.(Leu25=) NC_000009.12:137711017:C:T Identity +NM_001256053.2:c.5034del NP_001242982.1:p.Pro1678_Leu1679insTer NC_000010.11:27005685:A: p.(Leu1679Ter) NC_000010.11:27005685:A: p.(Leu1679Ter) NC_000010.11:27005685:A: Analogous +NM_001406559.1:c.78G>A NP_001393488.1:p.Leu26= NC_000010.11:86890071:G:A p.(Leu26=) NC_000010.11:86890071:G:A p.(Leu26=) NC_000010.11:86890071:G:A Identity +NM_001184985.2:c.6843G>A NP_001171914.1:p.Arg2281= NC_000012.12:896549:G:A p.(Arg2281=) NC_000012.12:896549:G:A p.(Arg2281=) NC_000012.12:896549:G:A Identity +NM_001406559.1:c.1173A>G NP_001393488.1:p.Lys391= NC_000010.11:86919400:A:G p.(Lys391=) NC_000010.11:86919400:A:G p.(Lys391=) NC_000010.11:86919400:A:G Identity +NM_000075.4:c.600T>C NP_000066.1:p.Val200= NC_000012.12:57750687:A:G p.(Val200=) NC_000012.12:57750687:A:G p.(Val200=) NC_000012.12:57750687:A:G Identity +NM_001406559.1:c.1035C>T NP_001393488.1:p.Phe345= NC_000010.11:86919262:C:T p.(Phe345=) NC_000010.11:86919262:C:T p.(Phe345=) NC_000010.11:86919262:C:T Identity +NM_000075.4:c.783A>T NP_000066.1:p.Val261= NC_000012.12:57749217:T:A p.(Val261=) NC_000012.12:57749217:T:A p.(Val261=) NC_000012.12:57749217:T:A Identity +NM_000465.4:c.2109C>G NP_000456.2:p.Leu703= NC_000002.12:214728900:G:C p.(Leu703=) NC_000002.12:214728900:G:C p.(Leu703=) NC_000002.12:214728900:G:C Identity +NM_001410772.1:c.843C>T NP_001397701.1:p.Asn281= NC_000003.12:52405798:G:A p.(Asn281=) NC_000003.12:52405798:G:A p.(Asn281=) NC_000003.12:52405798:G:A Identity +NM_001410772.1:c.1758G>A NP_001397701.1:p.Val586= NC_000003.12:52403215:C:T p.(Val586=) NC_000003.12:52403215:C:T p.(Val586=) NC_000003.12:52403215:C:T Identity +NM_004655.4:c.1884G>C NP_004646.3:p.Arg628= NC_000017.11:65536891:C:G p.(Arg628=) NC_000017.11:65536891:C:G p.(Arg628=) NC_000017.11:65536891:C:G Identity +NM_001410772.1:c.1257G>A NP_001397701.1:p.Leu419= NC_000003.12:52403833:C:T p.(Leu419=) NC_000003.12:52403833:C:T p.(Leu419=) NC_000003.12:52403833:C:T Identity +NM_000075.4:c.75T>C NP_000066.1:p.Asp25= NC_000012.12:57751642:A:G p.(Asp25=) NC_000012.12:57751642:A:G p.(Asp25=) NC_000012.12:57751642:A:G Identity +NM_023067.4:c.695_696insTGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGC NP_075555.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla NC_000003.12:138946027:GCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGC:GCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCAGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGC p.(Ala224_Ala234dup) NC_000003.12:138946026:T:GCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCA p.(Ala224_Ala234dup) NC_000003.12:138946027:TG:GCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCA Analogous +NM_000053.4:c.1587G>A NP_000044.2:p.Glu529= NC_000013.11:51968563:C:T p.(Glu529=) NC_000013.11:51968563:C:T p.(Glu529=) NC_000013.11:51968563:C:T Identity +NM_001035.3:c.6456C>T NP_001026.2:p.Asn2152= NC_000001.11:237631441:C:T p.(Asn2152=) NC_000001.11:237631441:C:T p.(Asn2152=) NC_000001.11:237631441:C:T Identity +NM_001406559.1:c.291T>C NP_001393488.1:p.Ala97= NC_000010.11:86892186:T:C p.(Ala97=) NC_000010.11:86892186:T:C p.(Ala97=) NC_000010.11:86892186:T:C Identity +NM_000069.3:c.2475T>C NP_000060.2:p.Asp825= NC_000001.11:201069486:A:G p.(Asp825=) NC_000001.11:201069486:A:G p.(Asp825=) NC_000001.11:201069486:A:G Identity +NM_000069.3:c.105C>T NP_000060.2:p.Thr35= NC_000001.11:201112234:G:A p.(Thr35=) NC_000001.11:201112234:G:A p.(Thr35=) NC_000001.11:201112234:G:A Identity +NM_000053.4:c.2253T>C NP_000044.2:p.Ala751= NC_000013.11:51958412:A:G p.(Ala751=) NC_000013.11:51958412:A:G p.(Ala751=) NC_000013.11:51958412:A:G Identity +NM_015627.3:c.12C>G NP_056442.2:p.Leu4= NC_000001.11:25543709:C:G p.(Leu4=) NC_000001.11:25543709:C:G p.(Leu4=) NC_000001.11:25543709:C:G Identity +NM_000244.4:c.768C>G NP_000235.3:p.Thr256= NC_000011.10:64807581:G:C p.(Thr256=) NC_000011.10:64807581:G:C p.(Thr256=) NC_000011.10:64807581:G:C Identity +NM_000245.4:c.2920A>C NP_000236.2:p.Arg974= NC_000007.14:116771880:A:C p.(Arg974=) NC_000007.14:116771880:A:C p.(Arg974=) NC_000007.14:116771880:A:C Identity +NM_000245.4:c.732T>C NP_000236.2:p.Ser244= NC_000007.14:116699815:T:C p.(Ser244=) NC_000007.14:116699815:T:C p.(Ser244=) NC_000007.14:116699815:T:C Identity +NM_000179.3:c.3847_3851delinsTA NP_000170.1:p.Ile1283_Thr1284delinsTer NC_000002.12:47806496:ATTAC:TA p.(Ile1283Ter) NC_000002.12:47806496:ATTAC:TA p.(Ile1283Ter) NC_000002.12:47806496:ATTAC:TA Analogous +NM_001048171.2:c.783G>C NP_001041636.2:p.Val261= NC_000001.11:45332231:C:G p.(Val261=) NC_000001.11:45332231:C:G p.(Val261=) NC_000001.11:45332231:C:G Identity +NM_000268.4:c.108T>C NP_000259.1:p.Asn36= NC_000022.11:29604105:T:C p.(Asn36=) NC_000022.11:29604105:T:C p.(Asn36=) NC_000022.11:29604105:T:C Identity +NM_001407296.1:c.2643G>C NP_001394225.1:p.Leu881= NC_000016.10:23626280:C:G p.(Leu881=) NC_000016.10:23626280:C:G p.(Leu881=) NC_000016.10:23626280:C:G Identity +NM_001347828.2:c.2458T>C NP_001334757.1:p.Leu820= NC_000004.12:54285429:T:C p.(Leu820=) NC_000004.12:54285429:T:C p.(Leu820=) NC_000004.12:54285429:T:C Identity +NM_003924.4:c.93T>C NP_003915.2:p.Ala31= NC_000004.12:41748517:A:G p.(Ala31=) NC_000004.12:41748517:A:G p.(Ala31=) NC_000004.12:41748517:A:G Identity +NM_006231.4:c.1918C>T NP_006222.2:p.Leu640= NC_000012.12:132668815:G:A p.(Leu640=) NC_000012.12:132668815:G:A p.(Leu640=) NC_000012.12:132668815:G:A Identity +NM_001276289.2:c.255T>C NP_001263218.1:p.Pro85= NC_000017.11:68522832:T:C p.(Pro85=) NC_000017.11:68522832:T:C p.(Pro85=) NC_000017.11:68522832:T:C Identity +NM_001083604.3:c.2235C>T NP_001077073.1:p.Pro745= NC_000009.12:95461870:G:A p.(Pro745=) NC_000009.12:95461870:G:A p.(Pro745=) NC_000009.12:95461870:G:A Identity +NM_005732.4:c.1236C>T NP_005723.2:p.Asn412= NC_000005.10:132588870:C:T p.(Asn412=) NC_000005.10:132588870:C:T p.(Asn412=) NC_000005.10:132588870:C:T Identity +NM_000321.3:c.792A>T NP_000312.2:p.Ala264= NC_000013.11:48362887:A:T p.(Ala264=) NC_000013.11:48362887:A:T p.(Ala264=) NC_000013.11:48362887:A:T Identity +NM_001406765.1:c.1659G>A NP_001393694.1:p.Arg553= NC_000010.11:43112862:G:A p.(Arg553=) NC_000010.11:43112862:G:A p.(Arg553=) NC_000010.11:43112862:G:A Identity +NM_001294332.2:c.981G>A NP_001281261.1:p.Gln327= NC_000005.10:235203:G:A p.(Gln327=) NC_000005.10:235203:G:A p.(Gln327=) NC_000005.10:235203:G:A Identity +NM_001128844.3:c.4797T>C NP_001122316.1:p.Leu1599= NC_000019.10:11060072:T:C p.(Leu1599=) NC_000019.10:11060072:T:C p.(Leu1599=) NC_000019.10:11060072:T:C Identity +NM_001128844.3:c.3015A>C NP_001122316.1:p.Arg1005= NC_000019.10:11024371:A:C p.(Arg1005=) NC_000019.10:11024371:A:C p.(Arg1005=) NC_000019.10:11024371:A:C Identity +NM_001128844.3:c.4020G>A NP_001122316.1:p.Glu1340= NC_000019.10:11034981:G:A p.(Glu1340=) NC_000019.10:11034981:G:A p.(Glu1340=) NC_000019.10:11034981:G:A Identity +NM_000546.6:c.174A>T NP_000537.3:p.Pro58= NC_000017.11:7676194:T:A p.(Pro58=) NC_000017.11:7676194:T:A p.(Pro58=) NC_000017.11:7676194:T:A Identity +NM_000548.5:c.4116G>A NP_000539.2:p.Val1372= NC_000016.10:2084337:G:A p.(Val1372=) NC_000016.10:2084337:G:A p.(Val1372=) NC_000016.10:2084337:G:A Identity +NM_000057.4:c.408C>T NP_000048.1:p.Leu136= NC_000015.10:90749675:C:T p.(Leu136=) NC_000015.10:90749675:C:T p.(Leu136=) NC_000015.10:90749675:C:T Identity +NM_000057.4:c.1344T>C NP_000048.1:p.Asn448= NC_000015.10:90760716:T:C p.(Asn448=) NC_000015.10:90760716:T:C p.(Asn448=) NC_000015.10:90760716:T:C Identity +NM_001407571.1:c.2685T>A NP_001394500.1:p.Ile895= NC_000017.11:43092632:A:T p.(Ile895=) NC_000017.11:43092632:A:T p.(Ile895=) NC_000017.11:43092632:A:T Identity +NM_000059.4:c.4746C>G NP_000050.3:p.Thr1582= NC_000013.11:32339100:C:G p.(Thr1582=) NC_000013.11:32339100:C:G p.(Thr1582=) NC_000013.11:32339100:C:G Identity +NM_024529.5:c.579A>G NP_078805.3:p.Lys193= NC_000001.11:193141915:A:G p.(Lys193=) NC_000001.11:193141915:A:G p.(Lys193=) NC_000001.11:193141915:A:G Identity +NM_004064.5:c.468A>C NP_004055.1:p.Ala156= NC_000012.12:12718306:A:C p.(Ala156=) NC_000012.12:12718306:A:C p.(Ala156=) NC_000012.12:12718306:A:C Identity +NM_000077.5:c.390G>A NP_000068.1:p.Leu130= NC_000009.12:21970968:C:T p.(Leu130=) NC_000009.12:21970968:C:T p.(Leu130=) NC_000009.12:21970968:C:T Identity +NM_001290307.3:c.52C>T NP_001277236.1:p.Leu18= NC_000005.10:138781975:C:T p.(Leu18=) NC_000005.10:138781975:C:T p.(Leu18=) NC_000005.10:138781975:C:T Identity +NM_001195573.1:c.108A>G NP_001182502.1:p.Ala36= NC_000014.9:95133350:T:C p.(Ala36=) NC_000014.9:95133350:T:C p.(Ala36=) NC_000014.9:95133350:T:C Identity +NM_001195573.1:c.4419A>G NP_001182502.1:p.Ser1473= NC_000014.9:95096500:T:C p.(Ser1473=) NC_000014.9:95096500:T:C p.(Ser1473=) NC_000014.9:95096500:T:C Identity +NM_001346897.2:c.363C>A NP_001333826.1:p.Val121= NC_000007.14:55143426:C:A p.(Val121=) NC_000007.14:55143426:C:A p.(Val121=) NC_000007.14:55143426:C:A Identity +NM_002354.3:c.735T>G NP_002345.2:p.Gly245= NC_000002.12:47379845:T:G p.(Gly245=) NC_000002.12:47379845:T:G p.(Gly245=) NC_000002.12:47379845:T:G Identity +NM_001353229.2:c.1080G>A NP_001340158.1:p.Lys360= NC_000017.11:17219054:C:T p.(Lys360=) NC_000017.11:17219054:C:T p.(Lys360=) NC_000017.11:17219054:C:T Identity +NM_004304.5:c.2415C>T NP_004295.2:p.Ile805= NC_000002.12:29233636:G:A p.(Ile805=) NC_000002.12:29233636:G:A p.(Ile805=) NC_000002.12:29233636:G:A Identity +NM_006767.4:c.921G>C NP_006758.2:p.Leu307= NC_000022.11:20991756:G:C p.(Leu307=) NC_000022.11:20991756:G:C p.(Leu307=) NC_000022.11:20991756:G:C Identity +NM_006767.4:c.906G>T NP_006758.2:p.Ala302= NC_000022.11:20991741:G:T p.(Ala302=) NC_000022.11:20991741:G:T p.(Ala302=) NC_000022.11:20991741:G:T Identity +NM_001291902.2:c.2040G>C NP_001278831.1:p.Pro680= NC_000011.10:68433620:G:C p.(Pro680=) NC_000011.10:68433620:G:C p.(Pro680=) NC_000011.10:68433620:G:C Identity +NM_000020.3:c.105G>A NP_000011.2:p.Thr35= NC_000012.12:51913141:G:A p.(Thr35=) NC_000012.12:51913141:G:A p.(Thr35=) NC_000012.12:51913141:G:A Identity +NM_001038.6:c.339C>G NP_001029.1:p.Pro113= NC_000012.12:6374444:G:C p.(Pro113=) NC_000012.12:6374444:G:C p.(Pro113=) NC_000012.12:6374444:G:C Identity +NM_000186.4:c.669G>A NP_000177.2:p.Gln223= NC_000001.11:196679671:G:A p.(Gln223=) NC_000001.11:196679671:G:A p.(Gln223=) NC_000001.11:196679671:G:A Identity +NM_001184985.2:c.2007G>A NP_001171914.1:p.Val669= NC_000012.12:862137:G:A p.(Val669=) NC_000012.12:862137:G:A p.(Val669=) NC_000012.12:862137:G:A Identity +NM_000270.4:c.150_151delinsAA NP_000261.2:p.Tyr50_Gly51delinsTer NC_000014.9:20472445:CG:AA p.(Tyr50Ter) NC_000014.9:20472445:CG:AA p.(Tyr50Ter) NC_000014.9:20472445:CG:AA Analogous +NM_000537.4:c.453A>G NP_000528.1:p.Thr151= NC_000001.11:204160598:T:C p.(Thr151=) NC_000001.11:204160598:T:C p.(Thr151=) NC_000001.11:204160598:T:C Identity +NM_198525.3:c.2252_2263del NP_940927.2:p.Glu751_Gln754del NC_000015.10:89642333:CCTGCTCTGCCTCCTGCTC:CCTGCTC p.(Glu751_Gln754del) NC_000015.10:89642333:CCTGCTCTGCCTCCTGCTC:CCTGCTC p.(Glu751_Gln754del) NC_000015.10:89642333:CCTGCTCTGCCT: Identity +NM_000196.4:c.324G>A NP_000187.3:p.Thr108= NC_000016.10:67435685:G:A p.(Thr108=) NC_000016.10:67435685:G:A p.(Thr108=) NC_000016.10:67435685:G:A Identity +NM_001329903.2:c.857_868del NP_001316832.1:p.Leu286_Glu290delinsTer NC_000017.11:1776601:TGACCTTGATAG: p.(Leu286Ter) NC_000017.11:1776601:TGACCTTGATAG: p.(Leu286Ter) NC_000017.11:1776601:TGACCTTGATAG: Analogous +NM_001293228.2:c.661_693del NP_001280157.1:p.Ser221_Ala231del NC_000002.12:15942721:GCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCC:GCC p.(Ser221_Ala231del) NC_000002.12:15942721:GCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCC:GCC p.(Ser221_Ala231del) NC_000002.12:15942724:TCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCC: Identity +NM_004525.3:c.4749C>T NP_004516.2:p.Ser1583= NC_000002.12:169236010:G:A p.(Ser1583=) NC_000002.12:169236010:G:A p.(Ser1583=) NC_000002.12:169236010:G:A Identity +NM_000091.5:c.3363G>A NP_000082.2:p.Leu1121= NC_000002.12:227294514:G:A p.(Leu1121=) NC_000002.12:227294514:G:A p.(Leu1121=) NC_000002.12:227294514:G:A Identity +NM_001282225.2:c.57G>A NP_001269154.1:p.Val19= NC_000022.11:17209620:C:T p.(Val19=) NC_000022.11:17209620:C:T p.(Val19=) NC_000022.11:17209620:C:T Identity +NM_002473.6:c.4344G>A NP_002464.1:p.Gln1448= NC_000022.11:36291985:C:T p.(Gln1448=) NC_000022.11:36291985:C:T p.(Gln1448=) NC_000022.11:36291985:C:T Identity +NM_000204.5:c.822C>T NP_000195.3:p.Ser274= NC_000004.12:109760330:G:A p.(Ser274=) NC_000004.12:109760330:G:A p.(Ser274=) NC_000004.12:109760330:G:A Identity +NM_001369.3:c.4052del NP_001360.1:p.Asp1350_Leu1351insTer NC_000005.10:13867774:AAA:AA p.(Leu1351Ter) NC_000005.10:13867774:AAA:AA p.(Leu1351Ter) NC_000005.10:13867774:A: Analogous +NM_001384732.1:c.2377_2380del NP_001371661.1:p.Ser792_Gln793insTer NC_000005.10:37224651:ACTGACT:ACT p.(Gln793Ter) NC_000005.10:37224651:ACTGACT:ACT p.(Gln793Ter) NC_000005.10:37224651:ACTG: Analogous +NM_000522.5:c.606C>A NP_000513.2:p.Ala202= NC_000007.14:27199471:G:T p.(Ala202=) NC_000007.14:27199471:G:T p.(Ala202=) NC_000007.14:27199471:G:T Identity +NM_000168.6:c.1791A>G NP_000159.3:p.Gln597= NC_000007.14:41977578:T:C p.(Gln597=) NC_000007.14:41977578:T:C p.(Gln597=) NC_000007.14:41977578:T:C Identity +NM_001172477.1:c.679_684del NP_001165948.1:p.Leu227_Phe228del NC_000008.11:102224127:AAATAAAAAT:AAAT p.(Leu227_Phe228del) NC_000008.11:102224127:AAATAAAAAT:AAAT p.(Leu227_Phe228del) NC_000008.11:102224127:AAATAA: Identity +NM_001174063.2:c.1377T>C NP_001167534.1:p.Ser459= NC_000008.11:38418274:A:G p.(Ser459=) NC_000008.11:38418274:A:G p.(Ser459=) NC_000008.11:38418274:A:G Identity +NM_001807.6:c.1705_1737del NP_001798.3:p.Thr569_Thr579del NC_000009.12:133071204:CCACTCCCGTGCCCCCCACGGGTGACTCCGAGACC:CC p.(Thr569_Thr579del) NC_000009.12:133071204:CCACTCCCGTGCCCCCCACGGGTGACTCCGAGACC:CC p.(Thr569_Thr579del) NC_000009.12:133071206:ACTCCCGTGCCCCCCACGGGTGACTCCGAGACC: Identity +NM_001012727.2:c.117G>A NP_001012745.1:p.Thr39= NC_000009.12:136687240:C:T p.(Thr39=) NC_000009.12:136687240:C:T p.(Thr39=) NC_000009.12:136687240:C:T Identity +NM_001379081.2:c.3480G>A NP_001366010.1:p.Glu1160= NC_000009.12:14801865:C:T p.(Glu1160=) NC_000009.12:14801865:C:T p.(Glu1160=) NC_000009.12:14801865:C:T Identity +NM_001042413.2:c.1494C>T NP_001035878.1:p.Gly498= NC_000009.12:4117983:G:A p.(Gly498=) NC_000009.12:4117983:G:A p.(Gly498=) NC_000009.12:4117983:G:A Identity +NM_001177310.2:c.3366_3371del NP_001170781.1:p.Glu1123_Glu1124del NC_000009.12:74775899:TCTTCTT:T p.(Glu1123_Glu1124del) NC_000009.12:74775899:TCTTCTT:T p.(Glu1123_Glu1124del) NC_000009.12:74775899:TCTTCT: Identity +NM_000085.5:c.1476C>T NP_000076.2:p.Thr492= NC_000001.11:16052264:C:T p.(Thr492=) NC_000001.11:16052264:C:T p.(Thr492=) NC_000001.11:16052264:C:T Identity +NM_001164716.1:c.1_12del NP_001158188.1:p.Met1_Pro4del NC_000011.10:64759886:GGGCCGGGACATGG:GG p.(Met1_Pro4del) NC_000011.10:64759886:GGGCCGGGACATGG:GG p.Met1? NC_000011.10:64759886:GGGCCGGGACAT: Identity +NM_004949.5:c.93C>T NP_004940.1:p.Ala31= NC_000018.10:31093619:G:A p.(Ala31=) NC_000018.10:31093619:G:A p.(Ala31=) NC_000018.10:31093619:G:A Identity +NM_001410975.1:c.2556A>G NP_001397904.1:p.Leu852= NC_000002.12:201733299:T:C p.(Leu852=) NC_000002.12:201733299:T:C p.(Leu852=) NC_000002.12:201733299:T:C Identity +NM_000081.4:c.1905A>G NP_000072.2:p.Ala635= NC_000001.11:235808912:T:C p.(Ala635=) NC_000001.11:235808912:T:C p.(Ala635=) NC_000001.11:235808912:T:C Identity +NM_001035.3:c.11818C>T NP_001026.2:p.Leu3940= NC_000001.11:237778707:C:T p.(Leu3940=) NC_000001.11:237778707:C:T p.(Leu3940=) NC_000001.11:237778707:C:T Identity +NM_001330358.2:c.1923G>A NP_001317287.1:p.Glu641= NC_000001.11:11790850:C:T p.(Glu641=) NC_000001.11:11790850:C:T p.(Glu641=) NC_000001.11:11790850:C:T Identity +NM_001321015.2:c.447T>C NP_001307944.1:p.Ile149= NC_000015.10:45366189:A:G p.(Ile149=) NC_000015.10:45366189:A:G p.(Ile149=) NC_000015.10:45366189:A:G Identity +NM_000270.4:c.288G>A NP_000261.2:p.Val96= NC_000014.9:20474774:G:A p.(Val96=) NC_000014.9:20474774:G:A p.(Val96=) NC_000014.9:20474774:G:A Identity +NM_017866.6:c.675C>G NP_060336.3:p.Leu225= NC_000008.11:73981512:C:G p.(Leu225=) NC_000008.11:73981512:C:G p.(Leu225=) NC_000008.11:73981512:C:G Identity +NM_001363729.2:c.357T>C NP_001350658.1:p.Asn119= NC_000020.11:36935180:A:G p.(Asn119=) NC_000020.11:36935180:A:G p.(Asn119=) NC_000020.11:36935180:A:G Identity +NM_001130144.3:c.148_183dup NP_001123616.1:p.Arg61_Phe62insGlyAlaGlyGlyGlyGlyAlaLeuAlaArgGluArg NC_000011.10:65557776:GCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCC:GCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCC p.(Gly50_Arg61dup) NC_000011.10:65557776:GCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCC:GCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCC p.(Gly50_Arg61dup) ERR:SPDI Analogous +NM_000282.4:c.753T>A NP_000273.2:p.Ser251= NC_000013.11:100262764:T:A p.(Ser251=) NC_000013.11:100262764:T:A p.(Ser251=) NC_000013.11:100262764:T:A Identity +NM_001100112.2:c.2646G>A NP_001093582.1:p.Lys882= NC_000017.11:10531683:C:T p.(Lys882=) NC_000017.11:10531683:C:T p.(Lys882=) NC_000017.11:10531683:C:T Identity +NM_001200001.2:c.2619C>T NP_001186930.1:p.Asp873= NC_000001.11:119948546:G:A p.(Asp873=) NC_000001.11:119948546:G:A p.(Asp873=) NC_000001.11:119948546:G:A Identity +NM_001160227.2:c.846T>C NP_001153699.1:p.Ala282= NC_000015.10:44657117:A:G p.(Ala282=) NC_000015.10:44657117:A:G p.(Ala282=) NC_000015.10:44657117:A:G Identity +NM_001146158.2:c.576C>G NP_001139630.1:p.Leu192= NC_000002.12:74462894:G:C p.(Leu192=) NC_000002.12:74462894:G:C p.(Leu192=) NC_000002.12:74462894:G:C Identity +NM_198525.3:c.720G>A NP_940927.2:p.Pro240= NC_000015.10:89649176:C:T p.(Pro240=) NC_000015.10:89649176:C:T p.(Pro240=) NC_000015.10:89649176:C:T Identity +NM_024589.3:c.801C>G NP_078865.1:p.Leu267= NC_000016.10:4797734:G:C p.(Leu267=) NC_000016.10:4797734:G:C p.(Leu267=) NC_000016.10:4797734:G:C Identity +NM_000433.4:c.492G>A NP_000424.2:p.Glu164= NC_000001.11:183574495:C:T p.(Glu164=) NC_000001.11:183574495:C:T p.(Glu164=) NC_000001.11:183574495:C:T Identity +NM_000308.4:c.1437A>G NP_000299.3:p.Pro479= NC_000020.11:45898443:A:G p.(Pro479=) NC_000020.11:45898443:A:G p.(Pro479=) NC_000020.11:45898443:A:G Identity +NM_017570.5:c.3186C>T NP_060040.1:p.Pro1062= NC_000008.11:144052565:G:A p.(Pro1062=) NC_000008.11:144052565:G:A p.(Pro1062=) NC_000008.11:144052565:G:A Identity +NM_000057.4:c.3852A>G NP_000048.1:p.Lys1284= NC_000015.10:90809236:A:G p.(Lys1284=) NC_000015.10:90809236:A:G p.(Lys1284=) NC_000015.10:90809236:A:G Identity +NM_001160227.2:c.4395A>G NP_001153699.1:p.Gln1465= NC_000015.10:44596121:T:C p.(Gln1465=) NC_000015.10:44596121:T:C p.(Gln1465=) NC_000015.10:44596121:T:C Identity +NM_001127396.3:c.177A>G NP_001120868.1:p.Glu59= NC_000019.10:7639737:A:G p.(Glu59=) NC_000019.10:7639737:A:G p.(Glu59=) NC_000019.10:7639737:A:G Identity +NM_000312.4:c.1281G>T NP_000303.1:p.Gly427= NC_000002.12:127428840:G:T p.(Gly427=) NC_000002.12:127428840:G:T p.(Gly427=) NC_000002.12:127428840:G:T Identity +NM_003334.4:c.3153C>T NP_003325.2:p.Pro1051= NC_000023.11:47214904:C:T p.(Pro1051=) NC_000023.11:47214904:C:T p.(Pro1051=) NC_000023.11:47214904:C:T Identity +NM_001370085.1:c.576C>A NP_001357014.1:p.Pro192= NC_000020.11:763994:G:T p.(Pro192=) NC_000020.11:763994:G:T p.(Pro192=) NC_000020.11:763994:G:T Identity +NM_030930.4:c.1494G>C NP_112192.2:p.Ala498= NC_000011.10:67991845:C:G p.(Ala498=) NC_000011.10:67991845:C:G p.(Ala498=) NC_000011.10:67991845:C:G Identity +NM_001182.5:c.513T>C NP_001173.2:p.Ser171= NC_000005.10:126582854:A:G p.(Ser171=) NC_000005.10:126582854:A:G p.(Ser171=) NC_000005.10:126582854:A:G Identity +NM_001347827.2:c.246G>A NP_001334756.1:p.Val82= NC_000004.12:54261290:G:A p.(Val82=) NC_000004.12:54261290:G:A p.(Val82=) NC_000004.12:54261290:G:A Identity +NM_000048.4:c.1332G>T NP_000039.2:p.Ala444= NC_000007.14:66092848:G:T p.(Ala444=) NC_000007.14:66092848:G:T p.(Ala444=) NC_000007.14:66092848:G:T Identity +NM_000169.3:c.921C>T NP_000160.1:p.Ala307= NC_000023.11:101398447:G:A p.(Ala307=) NC_000023.11:101398447:G:A p.(Ala307=) NC_000023.11:101398447:G:A Identity +NM_001410705.1:c.5475C>T NP_001397634.1:p.Thr1825= NC_000023.11:153951627:G:A p.(Thr1825=) NC_000023.11:153951627:G:A p.(Thr1825=) NC_000023.11:153951627:G:A Identity +NM_000215.4:c.1848C>T NP_000206.2:p.Gly616= NC_000019.10:17835989:G:A p.(Gly616=) NC_000019.10:17835989:G:A p.(Gly616=) NC_000019.10:17835989:G:A Identity +NM_001366624.2:c.468T>A NP_001353553.1:p.Pro156= NC_000013.11:76996029:T:A p.(Pro156=) NC_000013.11:76996029:T:A p.(Pro156=) NC_000013.11:76996029:T:A Identity +NM_001410859.1:c.7558C>T NP_001397788.1:p.Leu2520= NC_000018.10:45852645:G:A p.(Leu2520=) NC_000018.10:45852645:G:A p.(Leu2520=) NC_000018.10:45852645:G:A Identity +NM_001347828.2:c.2937G>A NP_001334757.1:p.Leu979= NC_000004.12:54289095:G:A p.(Leu979=) NC_000004.12:54289095:G:A p.(Leu979=) NC_000004.12:54289095:G:A Identity +NM_001164507.2:c.21384G>T NP_001157979.2:p.Leu7128= NC_000002.12:151534247:C:A p.(Leu7128=) NC_000002.12:151534247:C:A p.(Leu7128=) NC_000002.12:151534247:C:A Identity +NM_004572.4:c.516C>T NP_004563.2:p.Ser172= NC_000012.12:32878363:G:A p.(Ser172=) NC_000012.12:32878363:G:A p.(Ser172=) NC_000012.12:32878363:G:A Identity +NM_000116.5:c.150G>A NP_000107.1:p.Leu50= NC_000023.11:154412125:G:A p.(Leu50=) NC_000023.11:154412125:G:A p.(Leu50=) NC_000023.11:154412125:G:A Identity +NM_001126105.3:c.531C>G NP_001119577.1:p.Val177= NC_000014.9:22780019:G:C p.(Val177=) NC_000014.9:22780019:G:C p.(Val177=) NC_000014.9:22780019:G:C Identity +NM_001171653.2:c.1113A>T NP_001165124.1:p.Leu371= NC_000002.12:144400001:T:A p.(Leu371=) NC_000002.12:144400001:T:A p.(Leu371=) NC_000002.12:144400001:T:A Identity +NM_001378454.1:c.10488T>C NP_001365383.1:p.Ile3496= NC_000002.12:73572364:T:C p.(Ile3496=) NC_000002.12:73572364:T:C p.(Ile3496=) NC_000002.12:73572364:T:C Identity +NM_000046.5:c.246G>C NP_000037.2:p.Leu82= NC_000005.10:78985002:C:G p.(Leu82=) NC_000005.10:78985002:C:G p.(Leu82=) NC_000005.10:78985002:C:G Identity +NM_001127698.2:c.1083C>A NP_001121170.1:p.Thr361= NC_000005.10:148099305:C:A p.(Thr361=) NC_000005.10:148099305:C:A p.(Thr361=) NC_000005.10:148099305:C:A Identity +NM_000081.4:c.1992C>T NP_000072.2:p.Ser664= NC_000001.11:235808825:G:A p.(Ser664=) NC_000001.11:235808825:G:A p.(Ser664=) NC_000001.11:235808825:G:A Identity +NM_000321.3:c.2058_2066del NP_000312.2:p.His686_Leu688del NC_000013.11:48459781:GCACACCCTGCA:GCA p.(His686_Leu688del) NC_000013.11:48459781:GCACACCCTGCA:GCA p.(His686_Leu688del) NC_000013.11:48459784:CACCCTGCA: Identity +NM_001079872.2:c.90C>T NP_001073341.1:p.Thr30= NC_000023.11:120560548:G:A p.(Thr30=) NC_000023.11:120560548:G:A p.(Thr30=) NC_000023.11:120560548:G:A Identity +NM_004863.4:c.333T>C NP_004854.1:p.Phe111= NC_000014.9:77579103:A:G p.(Phe111=) NC_000014.9:77579103:A:G p.(Phe111=) NC_000014.9:77579103:A:G Identity +NM_001347827.2:c.696G>A NP_001334756.1:p.Val232= NC_000004.12:54264985:G:A p.(Val232=) NC_000004.12:54264985:G:A p.(Val232=) NC_000004.12:54264985:G:A Identity +NM_001110792.2:c.1350C>G NP_001104262.1:p.Pro450= NC_000023.11:154030513:G:C p.(Pro450=) NC_000023.11:154030513:G:C p.(Pro450=) NC_000023.11:154030513:G:C Identity +NM_001999.4:c.2268T>C NP_001990.2:p.Cys756= NC_000005.10:128366410:A:G p.(Cys756=) NC_000005.10:128366410:A:G p.(Cys756=) NC_000005.10:128366410:A:G Identity +NM_001308122.2:c.813A>C NP_001295051.1:p.Pro271= NC_000005.10:132385415:A:C p.(Pro271=) NC_000005.10:132385415:A:C p.(Pro271=) NC_000005.10:132385415:A:C Identity +NM_001378120.1:c.3660G>A NP_001365049.1:p.Gln1220= NC_000002.12:148485856:G:A p.(Gln1220=) NC_000002.12:148485856:G:A p.(Gln1220=) NC_000002.12:148485856:G:A Identity +LRG_741t1:c.11592T>G LRG_741p1:p.Ser3864= NC_000002.12:73599441:T:G ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_741t1 not found +NM_001144881.2:c.2400T>C NP_001138353.1:p.Ser800= NC_000012.12:42459904:A:G p.(Ser800=) NC_000012.12:42459904:A:G p.(Ser800=) NC_000012.12:42459904:A:G Identity +NM_001406506.1:c.942A>C NP_001393435.1:p.Thr314= NC_000018.10:31080244:T:G p.(Thr314=) NC_000018.10:31080244:T:G p.(Thr314=) NC_000018.10:31080244:T:G Identity +NM_001321851.1:c.4648T>C NP_001308780.1:p.Leu1550= NC_000014.9:92000014:A:G p.(Leu1550=) NC_000014.9:92000014:A:G p.(Leu1550=) NC_000014.9:92000014:A:G Identity +NM_001406506.1:c.1936GGA[3] NP_001393435.1:p.Gly647_His648insGly NC_000018.10:31069031:TCCTCCT:TCCTCCTCCT p.(Gly647dup) NC_000018.10:31069036:C:TCCTCCTCC ERR:Parse ERR:Parse Analogous +NM_000222.3:c.1290A>C NP_000213.1:p.Ala430= NC_000004.12:54723641:A:C p.(Ala430=) NC_000004.12:54723641:A:C p.(Ala430=) NC_000004.12:54723641:A:C Identity +NM_001160227.2:c.6156C>T NP_001153699.1:p.Gly2052= NC_000015.10:44569487:G:A p.(Gly2052=) NC_000015.10:44569487:G:A p.(Gly2052=) NC_000015.10:44569487:G:A Identity +NM_001035.3:c.483C>G NP_001026.2:p.Thr161= NC_000001.11:237377341:C:G p.(Thr161=) NC_000001.11:237377341:C:G p.(Thr161=) NC_000001.11:237377341:C:G Identity +NM_000020.3:c.1143G>T NP_000011.2:p.Leu381= NC_000012.12:51916129:G:T p.(Leu381=) NC_000012.12:51916129:G:T p.(Leu381=) NC_000012.12:51916129:G:T Identity +NM_001114377.2:c.762C>A NP_001107849.1:p.Gly254= NC_000023.11:49254016:G:T p.(Gly254=) NC_000023.11:49254016:G:T p.(Gly254=) NC_000023.11:49254016:G:T Identity +NM_000081.4:c.10431T>C NP_000072.2:p.Ser3477= NC_000001.11:235697215:A:G p.(Ser3477=) NC_000001.11:235697215:A:G p.(Ser3477=) NC_000001.11:235697215:A:G Identity +NM_018105.3:c.66C>T NP_060575.1:p.Phe22= NC_000008.11:42843028:G:A p.(Phe22=) NC_000008.11:42843028:G:A p.(Phe22=) NC_000008.11:42843028:G:A Identity +NM_001256182.2:c.5817C>T NP_001243111.1:p.Phe1939= NC_000016.10:89280724:G:A p.(Phe1939=) NC_000016.10:89280724:G:A p.(Phe1939=) NC_000016.10:89280724:G:A Identity +NM_001256182.2:c.3930C>T NP_001243111.1:p.Asp1310= NC_000016.10:89282611:G:A p.(Asp1310=) NC_000016.10:89282611:G:A p.(Asp1310=) NC_000016.10:89282611:G:A Identity +NM_002471.4:c.871C>T NP_002462.2:p.Leu291= NC_000014.9:23403374:G:A p.(Leu291=) NC_000014.9:23403374:G:A p.(Leu291=) NC_000014.9:23403374:G:A Identity +NM_001008540.2:c.261C>G NP_001008540.1:p.Ala87= NC_000002.12:136115678:G:C p.(Ala87=) NC_000002.12:136115678:G:C p.(Ala87=) NC_000002.12:136115678:G:C Identity +NM_016219.5:c.1488G>A NP_057303.2:p.Thr496= NC_000009.12:137106730:G:A p.(Thr496=) NC_000009.12:137106730:G:A p.(Thr496=) NC_000009.12:137106730:G:A Identity +NM_013444.4:c.834G>C NP_038472.2:p.Pro278= NC_000023.11:56564706:G:C p.(Pro278=) NC_000023.11:56564706:G:C p.(Pro278=) NC_000023.11:56564706:G:C Identity +NM_000243.3:c.1929G>C NP_000234.1:p.Leu643= NC_000016.10:3243557:C:G p.(Leu643=) NC_000016.10:3243557:C:G p.(Leu643=) NC_000016.10:3243557:C:G Identity +NM_001164277.2:c.243T>C NP_001157749.1:p.Ser81= NC_000011.10:119028331:A:G p.(Ser81=) NC_000011.10:119028331:A:G p.(Ser81=) NC_000011.10:119028331:A:G Identity +NM_001033855.3:c.1293A>G NP_001029027.1:p.Gln431= NC_000010.11:14909193:T:C p.(Gln431=) NC_000010.11:14909193:T:C p.(Gln431=) NC_000010.11:14909193:T:C Identity +NM_014714.4:c.3978G>A NP_055529.2:p.Glu1326= NC_000016.10:1519942:C:T p.(Glu1326=) NC_000016.10:1519942:C:T p.(Glu1326=) NC_000016.10:1519942:C:T Identity +NM_001100112.2:c.2334C>T NP_001093582.1:p.Leu778= NC_000017.11:10533391:G:A p.(Leu778=) NC_000017.11:10533391:G:A p.(Leu778=) NC_000017.11:10533391:G:A Identity +NM_001160227.2:c.2463A>G NP_001153699.1:p.Gln821= NC_000015.10:44621915:T:C p.(Gln821=) NC_000015.10:44621915:T:C p.(Gln821=) NC_000015.10:44621915:T:C Identity +NM_001127214.4:c.495C>T NP_001120686.1:p.Val165= NC_000016.10:89101175:C:T p.(Val165=) NC_000016.10:89101175:C:T p.(Val165=) NC_000016.10:89101175:C:T Identity +NM_001203247.2:c.1338T>C NP_001190176.1:p.Thr446= NC_000007.14:148817278:A:G p.(Thr446=) NC_000007.14:148817278:A:G p.(Thr446=) NC_000007.14:148817278:A:G Identity +NM_001035.3:c.10650A>G NP_001026.2:p.Arg3550= NC_000001.11:237723222:A:G p.(Arg3550=) NC_000001.11:237723222:A:G p.(Arg3550=) NC_000001.11:237723222:A:G Identity +NM_000832.7:c.2562C>A NP_000823.4:p.Ala854= NC_000009.12:137163876:C:A p.(Ala854=) NC_000009.12:137163876:C:A p.(Ala854=) NC_000009.12:137163876:C:A Identity +NM_000533.5:c.735G>T NP_000524.3:p.Val245= NC_000023.11:103789370:G:T p.(Val245=) NC_000023.11:103789370:G:T p.(Val245=) NC_000023.11:103789370:G:T Identity +NM_004273.5:c.1110C>G NP_004264.2:p.Arg370= NC_000010.11:72008140:C:G p.(Arg370=) NC_000010.11:72008140:C:G p.(Arg370=) NC_000010.11:72008140:C:G Identity +NM_001378454.1:c.12351G>A NP_001365383.1:p.Gln4117= NC_000002.12:73603292:G:A p.(Gln4117=) NC_000002.12:73603292:G:A p.(Gln4117=) NC_000002.12:73603292:G:A Identity +NM_000081.4:c.7125A>G NP_000072.2:p.Gly2375= NC_000001.11:235755581:T:C p.(Gly2375=) NC_000001.11:235755581:T:C p.(Gly2375=) NC_000001.11:235755581:T:C Identity +NM_000081.4:c.8478C>T NP_000072.2:p.His2826= NC_000001.11:235734539:G:A p.(His2826=) NC_000001.11:235734539:G:A p.(His2826=) NC_000001.11:235734539:G:A Identity +NM_018714.3:c.24C>A NP_061184.1:p.Pro8= NC_000017.11:73193092:C:A p.(Pro8=) NC_000017.11:73193092:C:A p.(Pro8=) NC_000017.11:73193092:C:A Identity +NM_001406506.1:c.2100A>G NP_001393435.1:p.Gln700= NC_000018.10:31068191:T:C p.(Gln700=) NC_000018.10:31068191:T:C p.(Gln700=) NC_000018.10:31068191:T:C Identity +NM_007254.4:c.252G>A NP_009185.2:p.Glu84= NC_000019.10:49865372:C:T p.(Glu84=) NC_000019.10:49865372:C:T p.(Glu84=) NC_000019.10:49865372:C:T Identity +NM_024105.4:c.516C>T NP_077010.1:p.Phe172= NC_000022.11:49910041:G:A p.(Phe172=) NC_000022.11:49910041:G:A p.(Phe172=) NC_000022.11:49910041:G:A Identity +NM_001033054.3:c.900C>G NP_001028226.1:p.Ser300= NC_000017.11:6425525:G:C p.(Ser300=) NC_000017.11:6425525:G:C p.(Ser300=) NC_000017.11:6425525:G:C Identity +NM_000215.4:c.2766T>C NP_000206.2:p.Asp922= NC_000019.10:17831712:A:G p.(Asp922=) NC_000019.10:17831712:A:G p.(Asp922=) NC_000019.10:17831712:A:G Identity +NM_001195227.2:c.3039A>C NP_001182156.1:p.Ala1013= NC_000019.10:49211026:A:C p.(Ala1013=) NC_000019.10:49211026:A:C p.(Ala1013=) NC_000019.10:49211026:A:C Identity +NM_004863.4:c.378G>A NP_004854.1:p.Leu126= NC_000014.9:77579058:C:T p.(Leu126=) NC_000014.9:77579058:C:T p.(Leu126=) NC_000014.9:77579058:C:T Identity +NM_001005373.4:c.1200G>A NP_001005373.1:p.Arg400= NC_000009.12:127485775:G:A p.(Arg400=) NC_000009.12:127485775:G:A p.(Arg400=) NC_000009.12:127485775:G:A Identity +NM_001256182.2:c.5892G>A NP_001243111.1:p.Gly1964= NC_000016.10:89280649:C:T p.(Gly1964=) NC_000016.10:89280649:C:T p.(Gly1964=) NC_000016.10:89280649:C:T Identity +NM_003265.3:c.2253A>G NP_003256.1:p.Thr751= NC_000004.12:186083938:A:G p.(Thr751=) NC_000004.12:186083938:A:G p.(Thr751=) NC_000004.12:186083938:A:G Identity +NM_001356429.2:c.246A>C NP_001343358.1:p.Arg82= NC_000008.11:15623186:A:C p.(Arg82=) NC_000008.11:15623186:A:C p.(Arg82=) NC_000008.11:15623186:A:C Identity +NM_001040167.2:c.267C>T NP_001035257.1:p.Gly89= NC_000007.14:2520127:C:T p.(Gly89=) NC_000007.14:2520127:C:T p.(Gly89=) NC_000007.14:2520127:C:T Identity +NM_001363729.2:c.1134T>C NP_001350658.1:p.Val378= NC_000020.11:36912480:A:G p.(Val378=) NC_000020.11:36912480:A:G p.(Val378=) NC_000020.11:36912480:A:G Identity +NM_000057.4:c.1272T>C NP_000048.1:p.Leu424= NC_000015.10:90760644:T:C p.(Leu424=) NC_000015.10:90760644:T:C p.(Leu424=) NC_000015.10:90760644:T:C Identity +NM_001126131.2:c.2769C>T NP_001119603.1:p.Gly923= NC_000015.10:89320977:G:A p.(Gly923=) NC_000015.10:89320977:G:A p.(Gly923=) NC_000015.10:89320977:G:A Identity +NM_001098268.2:c.603A>G NP_001091738.1:p.Gln201= NC_000013.11:108210665:T:C p.(Gln201=) NC_000013.11:108210665:T:C p.(Gln201=) NC_000013.11:108210665:T:C Identity +NM_001146158.2:c.2017C>A NP_001139630.1:p.Arg673= NC_000002.12:74461453:G:T p.(Arg673=) NC_000002.12:74461453:G:T p.(Arg673=) NC_000002.12:74461453:G:T Identity +NM_001288721.2:c.283C>T NP_001275650.1:p.Leu95= NC_000011.10:62617300:G:A p.(Leu95=) NC_000011.10:62617300:G:A p.(Leu95=) NC_000011.10:62617300:G:A Identity +NM_001114182.3:c.336A>G NP_001107654.1:p.Leu112= NC_000012.12:43772207:A:G p.(Leu112=) NC_000012.12:43772207:A:G p.(Leu112=) NC_000012.12:43772207:A:G Identity +NM_001083962.2:c.45G>A NP_001077431.1:p.Glu15= NC_000018.10:55587071:C:T p.(Glu15=) NC_000018.10:55587071:C:T p.(Glu15=) NC_000018.10:55587071:C:T Identity +NM_004204.5:c.280C>T NP_004195.2:p.Leu94= NC_000016.10:574353:C:T p.(Leu94=) NC_000016.10:574353:C:T p.(Leu94=) NC_000016.10:574353:C:T Identity +NM_001160227.2:c.834C>T NP_001153699.1:p.Asn278= NC_000015.10:44657129:G:A p.(Asn278=) NC_000015.10:44657129:G:A p.(Asn278=) NC_000015.10:44657129:G:A Identity +NM_000023.4:c.273C>A NP_000014.1:p.Gly91= NC_000017.11:50167696:C:A p.(Gly91=) NC_000017.11:50167696:C:A p.(Gly91=) NC_000017.11:50167696:C:A Identity +NM_001347827.2:c.1251T>C NP_001334756.1:p.Ile417= NC_000004.12:54272406:T:C p.(Ile417=) NC_000004.12:54272406:T:C p.(Ile417=) NC_000004.12:54272406:T:C Identity +NM_000833.5:c.2595G>A NP_000824.1:p.Arg865= NC_000016.10:9768850:C:T p.(Arg865=) NC_000016.10:9768850:C:T p.(Arg865=) NC_000016.10:9768850:C:T Identity +NM_001999.4:c.6450A>C NP_001990.2:p.Ala2150= NC_000005.10:128289942:T:G p.(Ala2150=) NC_000005.10:128289942:T:G p.(Ala2150=) NC_000005.10:128289942:T:G Identity +NM_000046.5:c.1251T>A NP_000037.2:p.Ser417= NC_000005.10:78781936:A:T p.(Ser417=) NC_000005.10:78781936:A:T p.(Ser417=) NC_000005.10:78781936:A:T Identity +NM_001410858.1:c.4104G>A NP_001397787.1:p.Lys1368= NC_000018.10:45910621:C:T p.(Lys1368=) NC_000018.10:45910621:C:T p.(Lys1368=) NC_000018.10:45910621:C:T Identity +NM_018973.4:c.120A>G NP_061846.2:p.Gly40= NC_000001.11:155140210:T:C p.(Gly40=) NC_000001.11:155140210:T:C p.(Gly40=) NC_000001.11:155140210:T:C Identity +NM_001386421.1:c.1815G>T NP_001373350.1:p.Val605= NC_000003.12:45967518:C:A p.(Val605=) NC_000003.12:45967518:C:A p.(Val605=) NC_000003.12:45967518:C:A Identity +NM_001065.4:c.1101C>T NP_001056.1:p.Pro367= NC_000012.12:6329578:G:A p.(Pro367=) NC_000012.12:6329578:G:A p.(Pro367=) NC_000012.12:6329578:G:A Identity +NM_000262.3:c.991C>T NP_000253.1:p.Leu331= NC_000022.11:42061033:G:A p.(Leu331=) NC_000022.11:42061033:G:A p.(Leu331=) NC_000022.11:42061033:G:A Identity +NM_007254.4:c.1527G>A NP_009185.2:p.Pro509= NC_000019.10:49861286:C:T p.(Pro509=) NC_000019.10:49861286:C:T p.(Pro509=) NC_000019.10:49861286:C:T Identity +NM_014244.5:c.696C>T NP_055059.2:p.Ser232= NC_000005.10:179207707:G:A p.(Ser232=) NC_000005.10:179207707:G:A p.(Ser232=) NC_000005.10:179207707:G:A Identity +NM_000033.4:c.246G>A NP_000024.2:p.Leu82= NC_000023.11:153725511:G:A p.(Leu82=) NC_000023.11:153725511:G:A p.(Leu82=) NC_000023.11:153725511:G:A Identity +NM_000090.4:c.2163T>C NP_000081.2:p.Thr721= NC_000002.12:188999510:T:C p.(Thr721=) NC_000002.12:188999510:T:C p.(Thr721=) NC_000002.12:188999510:T:C Identity +NM_000117.3:c.51C>T NP_000108.1:p.Arg17= NC_000023.11:154379534:C:T p.(Arg17=) NC_000023.11:154379534:C:T p.(Arg17=) NC_000023.11:154379534:C:T Identity +NM_001136024.4:c.2829A>G NP_001129496.1:p.Gly943= NC_000023.11:17727465:A:G p.(Gly943=) NC_000023.11:17727465:A:G p.(Gly943=) NC_000023.11:17727465:A:G Identity +NM_004273.5:c.915C>T NP_004264.2:p.Ala305= NC_000010.11:72007945:C:T p.(Ala305=) NC_000010.11:72007945:C:T p.(Ala305=) NC_000010.11:72007945:C:T Identity +NM_001171653.2:c.2608T>C NP_001165124.1:p.Leu870= NC_000002.12:144398506:A:G p.(Leu870=) NC_000002.12:144398506:A:G p.(Leu870=) NC_000002.12:144398506:A:G Identity +NM_001195227.2:c.246G>C NP_001182156.1:p.Gly82= NC_000019.10:49166193:G:C p.(Gly82=) NC_000019.10:49166193:G:C p.(Gly82=) NC_000019.10:49166193:G:C Identity +NM_000268.4:c.1335G>A NP_000259.1:p.Glu445= NC_000022.11:29673480:G:A p.(Glu445=) NC_000022.11:29673480:G:A p.(Glu445=) NC_000022.11:29673480:G:A Identity +NM_000520.6:c.810C>A NP_000511.2:p.Ile270= NC_000015.10:72349254:G:T p.(Ile270=) NC_000015.10:72349254:G:T p.(Ile270=) NC_000015.10:72349254:G:T Identity +NM_001410858.1:c.3870G>A NP_001397787.1:p.Leu1290= NC_000018.10:45912402:C:T p.(Leu1290=) NC_000018.10:45912402:C:T p.(Leu1290=) NC_000018.10:45912402:C:T Identity +NM_001943.5:c.1809G>A NP_001934.2:p.Gln603= NC_000018.10:31538907:G:A p.(Gln603=) NC_000018.10:31538907:G:A p.(Gln603=) NC_000018.10:31538907:G:A Identity +NM_004821.3:c.147G>C NP_004812.1:p.Pro49= NC_000005.10:154477861:C:G p.(Pro49=) NC_000005.10:154477861:C:G p.(Pro49=) NC_000005.10:154477861:C:G Identity +NM_001413017.1:c.3021C>T NP_001399946.1:p.Gly1007= NC_000008.11:144511988:G:A p.(Gly1007=) NC_000008.11:144511988:G:A p.(Gly1007=) NC_000008.11:144511988:G:A Identity +NM_001378454.1:c.11904G>A NP_001365383.1:p.Val3968= NC_000002.12:73601225:G:A p.(Val3968=) NC_000002.12:73601225:G:A p.(Val3968=) NC_000002.12:73601225:G:A Identity +NM_001256182.2:c.5460C>T NP_001243111.1:p.Ser1820= NC_000016.10:89281081:G:A p.(Ser1820=) NC_000016.10:89281081:G:A p.(Ser1820=) NC_000016.10:89281081:G:A Identity +NM_001128225.3:c.1053G>A NP_001121697.2:p.Gln351= NC_000011.10:47415299:G:A p.(Gln351=) NC_000011.10:47415299:G:A p.(Gln351=) NC_000011.10:47415299:G:A Identity +NM_017947.4:c.636C>G NP_060417.4:p.Pro212= NC_000018.10:36200018:C:G p.(Pro212=) NC_000018.10:36200018:C:G p.(Pro212=) NC_000018.10:36200018:C:G Identity +NM_153603.4:c.2241T>C NP_705831.1:p.Tyr747= NC_000016.10:23388991:A:G p.(Tyr747=) NC_000016.10:23388991:A:G p.(Tyr747=) NC_000016.10:23388991:A:G Identity +NM_000334.4:c.4500C>T NP_000325.4:p.Gly1500= NC_000017.11:63941781:G:A p.(Gly1500=) NC_000017.11:63941781:G:A p.(Gly1500=) NC_000017.11:63941781:G:A Identity +NM_000506.5:c.1104G>A NP_000497.1:p.Ser368= NC_000011.10:46726810:G:A p.(Ser368=) NC_000011.10:46726810:G:A p.(Ser368=) NC_000011.10:46726810:G:A Identity +NM_001039492.3:c.711C>A NP_001034581.1:p.Ile237= NC_000002.12:105361411:G:T p.(Ile237=) NC_000002.12:105361411:G:T p.(Ile237=) NC_000002.12:105361411:G:T Identity +NM_000081.4:c.8412T>C NP_000072.2:p.Gly2804= NC_000001.11:235734605:A:G p.(Gly2804=) NC_000001.11:235734605:A:G p.(Gly2804=) NC_000001.11:235734605:A:G Identity +NM_001161587.2:c.1941G>A NP_001155059.1:p.Val647= NC_000019.10:48969368:C:T p.(Val647=) NC_000019.10:48969368:C:T p.(Val647=) NC_000019.10:48969368:C:T Identity +NM_052945.4:c.327C>T NP_443177.1:p.Arg109= NC_000022.11:41926140:G:A p.(Arg109=) NC_000022.11:41926140:G:A p.(Arg109=) NC_000022.11:41926140:G:A Identity +NM_001044.5:c.978C>T NP_001035.1:p.Phe326= NC_000005.10:1416150:G:A p.(Phe326=) NC_000005.10:1416150:G:A p.(Phe326=) NC_000005.10:1416150:G:A Identity +NM_001164507.2:c.21864G>A NP_001157979.2:p.Glu7288= NC_000002.12:151526998:C:T p.(Glu7288=) NC_000002.12:151526998:C:T p.(Glu7288=) NC_000002.12:151526998:C:T Identity +NM_001256063.2:c.777G>A NP_001242992.1:p.Val259= NC_000012.12:40933533:G:A p.(Val259=) NC_000012.12:40933533:G:A p.(Val259=) NC_000012.12:40933533:G:A Identity +NM_001166111.2:c.3780C>T NP_001159583.1:p.Gly1260= NC_000019.10:7560697:C:T p.(Gly1260=) NC_000019.10:7560697:C:T p.(Gly1260=) NC_000019.10:7560697:C:T Identity +NM_001258040.3:c.879G>A NP_001244969.1:p.Gly293= NC_000005.10:140676848:C:T p.(Gly293=) NC_000005.10:140676848:C:T p.(Gly293=) NC_000005.10:140676848:C:T Identity +NM_001127215.3:c.915G>A NP_001120687.1:p.Val305= NC_000001.11:92480356:C:T p.(Val305=) NC_000001.11:92480356:C:T p.(Val305=) NC_000001.11:92480356:C:T Identity +NM_001256182.2:c.54C>T NP_001243111.1:p.Ser18= NC_000016.10:89316965:G:A p.(Ser18=) NC_000016.10:89316965:G:A p.(Ser18=) NC_000016.10:89316965:G:A Identity +NM_001146289.2:c.297G>C NP_001139761.1:p.Ser99= NC_000001.11:42766674:C:G p.(Ser99=) NC_000001.11:42766674:C:G p.(Ser99=) NC_000001.11:42766674:C:G Identity +NM_000419.5:c.2505G>A NP_000410.2:p.Pro835= NC_000017.11:44375928:C:T p.(Pro835=) NC_000017.11:44375928:C:T p.(Pro835=) NC_000017.11:44375928:C:T Identity +NM_003265.3:c.204C>T NP_003256.1:p.Ala68= NC_000004.12:186076822:C:T p.(Ala68=) NC_000004.12:186076822:C:T p.(Ala68=) NC_000004.12:186076822:C:T Identity +NM_001037633.2:c.270C>T NP_001032722.1:p.His90= NC_000005.10:139051020:G:A p.(His90=) NC_000005.10:139051020:G:A p.(His90=) NC_000005.10:139051020:G:A Identity +NM_001144881.2:c.555A>G NP_001138353.1:p.Glu185= NC_000012.12:42468658:T:C p.(Glu185=) NC_000012.12:42468658:T:C p.(Glu185=) NC_000012.12:42468658:T:C Identity +NM_001329090.2:c.1122T>A NP_001316019.1:p.Arg374= NC_000001.11:16137880:A:T p.(Arg374=) NC_000001.11:16137880:A:T p.(Arg374=) NC_000001.11:16137880:A:T Identity +NM_000360.4:c.927G>A NP_000351.2:p.Gln309= NC_000011.10:2166682:C:T p.(Gln309=) NC_000011.10:2166682:C:T p.(Gln309=) NC_000011.10:2166682:C:T Identity +NM_000506.5:c.1446T>C NP_000497.1:p.Cys482= NC_000011.10:46728810:T:C p.(Cys482=) NC_000011.10:46728810:T:C p.(Cys482=) NC_000011.10:46728810:T:C Identity +NM_001161587.2:c.1920C>T NP_001155059.1:p.Ser640= NC_000019.10:48969389:G:A p.(Ser640=) NC_000019.10:48969389:G:A p.(Ser640=) NC_000019.10:48969389:G:A Identity +NM_001288951.2:c.1168T>C NP_001275880.1:p.Leu390= NC_000002.12:47006023:T:C p.(Leu390=) NC_000002.12:47006023:T:C p.(Leu390=) NC_000002.12:47006023:T:C Identity +NM_001350234.2:c.1608A>G NP_001337163.1:p.Glu536= NC_000001.11:9720830:A:G p.(Glu536=) NC_000001.11:9720830:A:G p.(Glu536=) NC_000001.11:9720830:A:G Identity +NM_005271.5:c.72C>T NP_005262.1:p.Ala24= NC_000010.11:87094697:G:A p.(Ala24=) NC_000010.11:87094697:G:A p.(Ala24=) NC_000010.11:87094697:G:A Identity +NM_000081.4:c.8388A>G NP_000072.2:p.Ser2796= NC_000001.11:235734629:T:C p.(Ser2796=) NC_000001.11:235734629:T:C p.(Ser2796=) NC_000001.11:235734629:T:C Identity +NM_001378454.1:c.7509A>G NP_001365383.1:p.Ala2503= NC_000002.12:73454035:A:G p.(Ala2503=) NC_000002.12:73454035:A:G p.(Ala2503=) NC_000002.12:73454035:A:G Identity +NM_001195227.2:c.2682C>T NP_001182156.1:p.Leu894= NC_000019.10:49202126:C:T p.(Leu894=) NC_000019.10:49202126:C:T p.(Leu894=) NC_000019.10:49202126:C:T Identity +NM_000048.4:c.315G>A NP_000039.2:p.Gly105= NC_000007.14:66082902:G:A p.(Gly105=) NC_000007.14:66082902:G:A p.(Gly105=) NC_000007.14:66082902:G:A Identity +NM_000455.5:c.1131C>A NP_000446.1:p.Ala377= NC_000019.10:1226475:C:A p.(Ala377=) NC_000019.10:1226475:C:A p.(Ala377=) NC_000019.10:1226475:C:A Identity +LRG_507t1:c.1473A>G LRG_507p1:p.Lys491= NC_000001.11:193249784:A:G ERR:Data provider error: ValueError: Transcript LRG_507t1 not found ERR:Data provider error: ValueError: Transcript LRG_507t1 not found ERR:AlignmentMapper(tx_ac=LRG_507t1, alt_ac=LRG_507t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_507t1, alt_ac=LRG_507t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_507t1 not found +NM_024105.4:c.1389C>T NP_077010.1:p.Asn463= NC_000022.11:49903915:G:A p.(Asn463=) NC_000022.11:49903915:G:A p.(Asn463=) NC_000022.11:49903915:G:A Identity +NM_000017.4:c.585C>T NP_000008.1:p.Ala195= NC_000012.12:120737948:C:T p.(Ala195=) NC_000012.12:120737948:C:T p.(Ala195=) NC_000012.12:120737948:C:T Identity +NM_001278590.2:c.465G>C NP_001265519.1:p.Leu155= NC_000004.12:39465116:G:C p.(Leu155=) NC_000004.12:39465116:G:C p.(Leu155=) NC_000004.12:39465116:G:C Identity +NM_001195227.2:c.801T>C NP_001182156.1:p.Thr267= NC_000019.10:49171360:T:C p.(Thr267=) NC_000019.10:49171360:T:C p.(Thr267=) NC_000019.10:49171360:T:C Identity +NM_001406506.1:c.1851T>A NP_001393435.1:p.Thr617= NC_000018.10:31069121:A:T p.(Thr617=) NC_000018.10:31069121:A:T p.(Thr617=) NC_000018.10:31069121:A:T Identity +NM_000017.4:c.507C>T NP_000008.1:p.Thr169= NC_000012.12:120737870:C:T p.(Thr169=) NC_000012.12:120737870:C:T p.(Thr169=) NC_000012.12:120737870:C:T Identity +NM_000081.4:c.7773C>T NP_000072.2:p.Ser2591= NC_000001.11:235751216:G:A p.(Ser2591=) NC_000001.11:235751216:G:A p.(Ser2591=) NC_000001.11:235751216:G:A Identity +NM_001350626.2:c.1662C>A NP_001337555.1:p.Leu554= NC_000007.14:2539286:G:T p.(Leu554=) NC_000007.14:2539286:G:T p.(Leu554=) NC_000007.14:2539286:G:T Identity +NM_000321.3:c.441T>G NP_000312.2:p.Ala147= NC_000013.11:48345139:T:G p.(Ala147=) NC_000013.11:48345139:T:G p.(Ala147=) NC_000013.11:48345139:T:G Identity +NM_000203.5:c.924G>A NP_000194.2:p.Leu308= NC_000004.12:1002112:G:A p.(Leu308=) NC_000004.12:1002112:G:A p.(Leu308=) NC_000004.12:1002112:G:A Identity +NM_001005373.4:c.2151C>G NP_001005373.1:p.Leu717= NC_000009.12:127502877:C:G p.(Leu717=) NC_000009.12:127502877:C:G p.(Leu717=) NC_000009.12:127502877:C:G Identity +NM_012448.4:c.1833A>C NP_036580.2:p.Pro611= NC_000017.11:42210243:T:G p.(Pro611=) NC_000017.11:42210243:T:G p.(Pro611=) NC_000017.11:42210243:T:G Identity +NM_000117.3:c.27T>C NP_000108.1:p.Asp9= NC_000023.11:154379510:T:C p.(Asp9=) NC_000023.11:154379510:T:C p.(Asp9=) NC_000023.11:154379510:T:C Identity +LRG_268t1:c.6867A>C LRG_268p1:p.Ser2289= NC_000009.12:132277127:T:G ERR:Data provider error: ValueError: Transcript LRG_268t1 not found ERR:Data provider error: ValueError: Transcript LRG_268t1 not found ERR:AlignmentMapper(tx_ac=LRG_268t1, alt_ac=LRG_268t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_268t1, alt_ac=LRG_268t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_268t1 not found +NM_001378923.1:c.960C>T NP_001365852.1:p.Asp320= NC_000009.12:35799703:C:T p.(Asp320=) NC_000009.12:35799703:C:T p.(Asp320=) NC_000009.12:35799703:C:T Identity +NM_005045.4:c.8934C>T NP_005036.2:p.Asp2978= NC_000007.14:103497835:G:A p.(Asp2978=) NC_000007.14:103497835:G:A p.(Asp2978=) NC_000007.14:103497835:G:A Identity +NM_001382.4:c.420T>C NP_001373.2:p.Tyr140= NC_000011.10:119100705:A:G p.(Tyr140=) NC_000011.10:119100705:A:G p.(Tyr140=) NC_000011.10:119100705:A:G Identity +NM_000448.3:c.1791G>A NP_000439.2:p.Val597= NC_000011.10:36575094:G:A p.(Val597=) NC_000011.10:36575094:G:A p.(Val597=) NC_000011.10:36575094:G:A Identity +NM_001365536.1:c.4536G>A NP_001352465.1:p.Val1512= NC_000002.12:166204192:C:T p.(Val1512=) NC_000002.12:166204192:C:T p.(Val1512=) NC_000002.12:166204192:C:T Identity +NM_001079812.3:c.780A>G NP_001073280.1:p.Leu260= NC_000005.10:141580760:T:C p.(Leu260=) NC_000005.10:141580760:T:C p.(Leu260=) NC_000005.10:141580760:T:C Identity +NM_001143973.2:c.402A>T NP_001137445.1:p.Val134= NC_000010.11:95693016:T:A p.(Val134=) NC_000010.11:95693016:T:A p.(Val134=) NC_000010.11:95693016:T:A Identity +NM_001127487.2:c.1215C>G NP_001120959.1:p.Ala405= NC_000007.14:128838606:C:G p.(Ala405=) NC_000007.14:128838606:C:G p.(Ala405=) NC_000007.14:128838606:C:G Identity +NM_001141973.3:c.2460C>G NP_001135445.1:p.Leu820= NC_000001.11:16989940:G:C p.(Leu820=) NC_000001.11:16989940:G:C p.(Leu820=) NC_000001.11:16989940:G:C Identity +NM_000248.4:c.561G>C NP_000239.1:p.Ala187= NC_000003.12:69951812:G:C p.(Ala187=) NC_000003.12:69951812:G:C p.(Ala187=) NC_000003.12:69951812:G:C Identity +NM_000445.5:c.1966C>T NP_000436.2:p.Leu656= NC_000008.11:143932491:G:A p.(Leu656=) NC_000008.11:143932491:G:A p.(Leu656=) NC_000008.11:143932491:G:A Identity +NM_000068.4:c.5499C>T NP_000059.3:p.His1833= NC_000019.10:13230128:G:A p.(His1833=) NC_000019.10:13230128:G:A p.(His1833=) NC_000019.10:13230128:G:A Identity +NM_001184985.2:c.2586A>G NP_001171914.1:p.Ala862= NC_000012.12:868311:A:G p.(Ala862=) NC_000012.12:868311:A:G p.(Ala862=) NC_000012.12:868311:A:G Identity +NM_000068.4:c.1281G>A NP_000059.3:p.Lys427= NC_000019.10:13330310:C:T p.(Lys427=) NC_000019.10:13330310:C:T p.(Lys427=) NC_000019.10:13330310:C:T Identity +NM_000431.4:c.417C>A NP_000422.1:p.Pro139= NC_000012.12:109581439:C:A p.(Pro139=) NC_000012.12:109581439:C:A p.(Pro139=) NC_000012.12:109581439:C:A Identity +NM_001174063.2:c.696G>A NP_001167534.1:p.Val232= NC_000008.11:38426170:C:T p.(Val232=) NC_000008.11:38426170:C:T p.(Val232=) NC_000008.11:38426170:C:T Identity +NM_000248.4:c.939G>A NP_000239.1:p.Arg313= NC_000003.12:69964926:G:A p.(Arg313=) NC_000003.12:69964926:G:A p.(Arg313=) NC_000003.12:69964926:G:A Identity +NM_001301071.2:c.924G>T NP_001288000.1:p.Gly308= NC_000004.12:3492909:G:T p.(Gly308=) NC_000004.12:3492909:G:T p.(Gly308=) NC_000004.12:3492909:G:T Identity +NM_000445.5:c.8682A>T NP_000436.2:p.Leu2894= NC_000008.11:143921219:T:A p.(Leu2894=) NC_000008.11:143921219:T:A p.(Leu2894=) NC_000008.11:143921219:T:A Identity +NM_001174063.2:c.805C>T NP_001167534.1:p.Leu269= NC_000008.11:38424639:G:A p.(Leu269=) NC_000008.11:38424639:G:A p.(Leu269=) NC_000008.11:38424639:G:A Identity +NM_001143973.2:c.40C>T NP_001137445.1:p.Leu14= NC_000010.11:95693859:G:A p.(Leu14=) NC_000010.11:95693859:G:A p.(Leu14=) NC_000010.11:95693859:G:A Identity +NM_001378923.1:c.183C>T NP_001365852.1:p.Pro61= NC_000009.12:35792590:C:T p.(Pro61=) NC_000009.12:35792590:C:T p.(Pro61=) NC_000009.12:35792590:C:T Identity +NM_000068.4:c.5247G>A NP_000059.3:p.Gln1749= NC_000019.10:13234940:C:T p.(Gln1749=) NC_000019.10:13234940:C:T p.(Gln1749=) NC_000019.10:13234940:C:T Identity +NM_002334.4:c.3465G>A NP_002325.2:p.Gly1155= NC_000011.10:46876536:C:T p.(Gly1155=) NC_000011.10:46876536:C:T p.(Gly1155=) NC_000011.10:46876536:C:T Identity +NM_001025107.3:c.1281C>T NP_001020278.1:p.Tyr427= NC_000001.11:154596908:G:A p.(Tyr427=) NC_000001.11:154596908:G:A p.(Tyr427=) NC_000001.11:154596908:G:A Identity +NM_000448.3:c.39T>G NP_000439.2:p.Ser13= NC_000011.10:36573342:T:G p.(Ser13=) NC_000011.10:36573342:T:G p.(Ser13=) NC_000011.10:36573342:T:G Identity +NM_001143973.2:c.576C>A NP_001137445.1:p.Ala192= NC_000010.11:95687082:G:T p.(Ala192=) NC_000010.11:95687082:G:T p.(Ala192=) NC_000010.11:95687082:G:T Identity +NM_000068.4:c.5298C>A NP_000059.3:p.Ile1766= NC_000019.10:13231829:G:T p.(Ile1766=) NC_000019.10:13231829:G:T p.(Ile1766=) NC_000019.10:13231829:G:T Identity +NM_004415.4:c.4344G>A NP_004406.2:p.Glu1448= NC_000006.12:7580533:G:A p.(Glu1448=) NC_000006.12:7580533:G:A p.(Glu1448=) NC_000006.12:7580533:G:A Identity +NM_000445.5:c.12639G>T NP_000436.2:p.Ser4213= NC_000008.11:143917262:C:A p.(Ser4213=) NC_000008.11:143917262:C:A p.(Ser4213=) NC_000008.11:143917262:C:A Identity +NM_001306090.2:c.1809G>A NP_001293019.1:p.Val603= NC_000004.12:5793639:G:A p.(Val603=) NC_000004.12:5793639:G:A p.(Val603=) NC_000004.12:5793639:G:A Identity +NM_001035511.3:c.99G>C NP_001030588.1:p.Thr33= NC_000001.11:161328416:G:C p.(Thr33=) NC_000001.11:161328416:G:C p.(Thr33=) NC_000001.11:161328416:G:C Identity +NM_001007565.2:c.933G>A NP_001007566.1:p.Leu311= NC_000003.12:100748260:G:A p.(Leu311=) NC_000003.12:100748260:G:A p.(Leu311=) NC_000003.12:100748260:G:A Identity +NM_001017423.2:c.1869C>A NP_001017423.1:p.Leu623= NC_000010.11:95613789:G:T p.(Leu623=) NC_000010.11:95613789:G:T p.(Leu623=) NC_000010.11:95613789:G:T Identity +NM_000445.5:c.12357C>T NP_000436.2:p.Asp4119= NC_000008.11:143917544:G:A p.(Asp4119=) NC_000008.11:143917544:G:A p.(Asp4119=) NC_000008.11:143917544:G:A Identity +NM_001199954.3:c.453T>C NP_001186883.1:p.Ile151= NC_000017.11:81511536:A:G p.(Ile151=) NC_000017.11:81511536:A:G p.(Ile151=) NC_000017.11:81511536:A:G Identity +NM_000445.5:c.5346C>A NP_000436.2:p.Ala1782= NC_000008.11:143924663:G:T p.(Ala1782=) NC_000008.11:143924663:G:T p.(Ala1782=) NC_000008.11:143924663:G:T Identity +NM_001351527.2:c.1612C>T NP_001338456.1:p.Leu538= NC_000009.12:132329985:G:A p.(Leu538=) NC_000009.12:132329985:G:A p.(Leu538=) NC_000009.12:132329985:G:A Identity +NM_001025107.3:c.2175T>C NP_001020278.1:p.Pro725= NC_000001.11:154586322:A:G p.(Pro725=) NC_000001.11:154586322:A:G p.(Pro725=) NC_000001.11:154586322:A:G Identity +NM_001127487.2:c.5373G>A NP_001120959.1:p.Val1791= NC_000007.14:128850875:G:A p.(Val1791=) NC_000007.14:128850875:G:A p.(Val1791=) NC_000007.14:128850875:G:A Identity +NM_001035511.3:c.123C>T NP_001030588.1:p.Phe41= NC_000001.11:161328440:C:T p.(Phe41=) NC_000001.11:161328440:C:T p.(Phe41=) NC_000001.11:161328440:C:T Identity +NM_001166280.2:c.165C>A NP_001159752.1:p.Pro55= NC_000009.12:110682758:C:A p.(Pro55=) NC_000009.12:110682758:C:A p.(Pro55=) NC_000009.12:110682758:C:A Identity +NM_001127487.2:c.5256C>T NP_001120959.1:p.Phe1752= NC_000007.14:128850439:C:T p.(Phe1752=) NC_000007.14:128850439:C:T p.(Phe1752=) NC_000007.14:128850439:C:T Identity +NM_000044.6:c.744C>T NP_000035.2:p.Gly248= NC_000023.11:67545889:C:T p.(Gly248=) NC_000023.11:67545889:C:T p.(Gly248=) NC_000023.11:67545889:C:T Identity +NM_001127487.2:c.2739G>A NP_001120959.1:p.Glu913= NC_000007.14:128843504:G:A p.(Glu913=) NC_000007.14:128843504:G:A p.(Glu913=) NC_000007.14:128843504:G:A Identity +NM_001406482.1:c.351C>T NP_001393411.1:p.Asn117= NC_000015.10:34793347:G:A p.(Asn117=) NC_000015.10:34793347:G:A p.(Asn117=) NC_000015.10:34793347:G:A Identity +NM_001008844.3:c.885G>A NP_001008844.1:p.Leu295= NC_000006.12:7565465:G:A p.(Leu295=) NC_000006.12:7565465:G:A p.(Leu295=) NC_000006.12:7565465:G:A Identity +NM_004281.4:c.618C>T NP_004272.2:p.Ile206= NC_000010.11:119672364:C:T p.(Ile206=) NC_000010.11:119672364:C:T p.(Ile206=) NC_000010.11:119672364:C:T Identity +NM_001243027.3:c.384C>T NP_001229956.1:p.Ala128= NC_000019.10:40241940:G:A p.(Ala128=) NC_000019.10:40241940:G:A p.(Ala128=) NC_000019.10:40241940:G:A Identity +NM_001243027.3:c.849C>T NP_001229956.1:p.Cys283= NC_000019.10:40236029:G:A p.(Cys283=) NC_000019.10:40236029:G:A p.(Cys283=) NC_000019.10:40236029:G:A Identity +NM_002180.3:c.1224A>G NP_002171.2:p.Thr408= NC_000011.10:68929345:A:G p.(Thr408=) NC_000011.10:68929345:A:G p.(Thr408=) NC_000011.10:68929345:A:G Identity +NM_001184985.2:c.7515A>G NP_001171914.1:p.Thr2505= NC_000012.12:907937:A:G p.(Thr2505=) NC_000012.12:907937:A:G p.(Thr2505=) NC_000012.12:907937:A:G Identity +NM_001425142.1:c.228G>A NP_001412071.1:p.Ser76= NC_000014.9:60648961:C:T p.(Ser76=) NC_000014.9:60648961:C:T p.(Ser76=) NC_000014.9:60648961:C:T Identity +NM_001365536.1:c.2491T>C NP_001352465.1:p.Leu831= NC_000002.12:166278165:A:G p.(Leu831=) NC_000002.12:166278165:A:G p.(Leu831=) NC_000002.12:166278165:A:G Identity +NM_000445.5:c.8691C>T NP_000436.2:p.Arg2897= NC_000008.11:143921210:G:A p.(Arg2897=) NC_000008.11:143921210:G:A p.(Arg2897=) NC_000008.11:143921210:G:A Identity +NM_000089.4:c.2077C>A NP_000080.2:p.Arg693= NC_000007.14:94419548:C:A p.(Arg693=) NC_000007.14:94419548:C:A p.(Arg693=) NC_000007.14:94419548:C:A Identity +NM_001017423.2:c.1248T>C NP_001017423.1:p.Leu416= NC_000010.11:95621243:A:G p.(Leu416=) NC_000010.11:95621243:A:G p.(Leu416=) NC_000010.11:95621243:A:G Identity +NM_001017423.2:c.492C>G NP_001017423.1:p.Ala164= NC_000010.11:95637158:G:C p.(Ala164=) NC_000010.11:95637158:G:C p.(Ala164=) NC_000010.11:95637158:G:C Identity +NM_000536.4:c.861C>T NP_000527.2:p.Cys287= NC_000011.10:36593307:G:A p.(Cys287=) NC_000011.10:36593307:G:A p.(Cys287=) NC_000011.10:36593307:G:A Identity +NM_000143.4:c.87T>A NP_000134.2:p.Gly29= NC_000001.11:241519635:A:T p.(Gly29=) NC_000001.11:241519635:A:T p.(Gly29=) NC_000001.11:241519635:A:T Identity +NM_000143.4:c.1264C>T NP_000134.2:p.Leu422= NC_000001.11:241500562:G:A p.(Leu422=) NC_000001.11:241500562:G:A p.(Leu422=) NC_000001.11:241500562:G:A Identity +NM_000143.4:c.1287C>G NP_000134.2:p.Ser429= NC_000001.11:241500539:G:C p.(Ser429=) NC_000001.11:241500539:G:C p.(Ser429=) NC_000001.11:241500539:G:C Identity +NM_001290307.3:c.804A>G NP_001277236.1:p.Ser268= NC_000005.10:138824744:A:G p.(Ser268=) NC_000005.10:138824744:A:G p.(Ser268=) NC_000005.10:138824744:A:G Identity +NM_015629.4:c.365dup NP_056444.3:p.Pro123_Glu124insTer NC_000019.10:54122537:TT:TTT p.(Glu124Ter) NC_000019.10:54122537:TT:TTT p.(Glu124Ter) ERR:SPDI Analogous +NM_000462.5:c.807_808del NP_000453.2:p.Cys269_Asp270delinsTer NC_000015.10:25371374:CACA:CA p.(Cys269Ter) NC_000015.10:25371374:CACA:CA p.(Cys269Ter) NC_000015.10:25371374:CA: Analogous +NM_000059.4:c.3471G>A NP_000050.3:p.Glu1157= NC_000013.11:32337825:G:A p.(Glu1157=) NC_000013.11:32337825:G:A p.(Glu1157=) NC_000013.11:32337825:G:A Identity +NM_001256849.1:c.2952_2953delinsAA NP_001243778.1:p.Leu984_Arg985= NC_000019.10:50416526:GC:AA p.(Leu984_Arg985=) NC_000019.10:50416526:GC:AA p.(Leu984=) NC_000019.10:50416526:GC:AA Identity +NM_001042594.2:c.1431G>A NP_001036059.1:p.Lys477= NC_000007.14:124824042:C:T p.(Lys477=) NC_000007.14:124824042:C:T p.(Lys477=) NC_000007.14:124824042:C:T Identity +NM_000264.5:c.2925T>G NP_000255.2:p.Pro975= NC_000009.12:95458255:A:C p.(Pro975=) NC_000009.12:95458255:A:C p.(Pro975=) NC_000009.12:95458255:A:C Identity +NM_000321.3:c.456G>A NP_000312.2:p.Leu152= NC_000013.11:48345154:G:A p.(Leu152=) NC_000013.11:48345154:G:A p.(Leu152=) NC_000013.11:48345154:G:A Identity +NM_001330758.2:c.442_448delinsACTGCCA NP_001317687.1:p.Ala148_Val150delinsThrAlaMet NC_000005.10:225547:GCCGCCG:ACTGCCA p.(Ala148_Val150delinsThrAlaMet) NC_000005.10:225547:GCCGCCG:ACTGCCA p.(Ala148_Val150delinsThrAlaMet) NC_000005.10:225547:GCCGCCG:ACTGCCA Identity +NM_001294332.2:c.663C>G NP_001281261.1:p.Ala221= NC_000005.10:230911:C:G p.(Ala221=) NC_000005.10:230911:C:G p.(Ala221=) NC_000005.10:230911:C:G Identity +NM_001128844.3:c.558C>G NP_001122316.1:p.Ala186= NC_000019.10:10986390:C:G p.(Ala186=) NC_000019.10:10986390:C:G p.(Ala186=) NC_000019.10:10986390:C:G Identity +NM_001007468.3:c.876G>C NP_001007469.1:p.Leu292= NC_000022.11:23825331:G:C p.(Leu292=) NC_000022.11:23825331:G:C p.(Leu292=) NC_000022.11:23825331:G:C Identity +NM_001178133.2:c.39C>G NP_001171604.1:p.Thr13= NC_000010.11:102504190:C:G p.(Thr13=) NC_000010.11:102504190:C:G p.(Thr13=) NC_000010.11:102504190:C:G Identity +NM_001193304.3:c.462C>A NP_001180233.1:p.Ile154= NC_000002.12:96254062:G:T p.(Ile154=) NC_000002.12:96254062:G:T p.(Ile154=) NC_000002.12:96254062:G:T Identity +NM_000546.6:c.588A>G NP_000537.3:p.Arg196= NC_000017.11:7674942:T:C p.(Arg196=) NC_000017.11:7674942:T:C p.(Arg196=) NC_000017.11:7674942:T:C Identity +NM_001363813.1:c.1029C>G NP_001350742.1:p.Ala343= NC_000017.11:65541484:G:C p.(Ala343=) NC_000017.11:65541484:G:C p.(Ala343=) NC_000017.11:65541484:G:C Identity +NM_000551.4:c.513G>A NP_000542.1:p.Lys171= NC_000003.12:10149835:G:A p.(Lys171=) NC_000003.12:10149835:G:A p.(Lys171=) NC_000003.12:10149835:G:A Identity +NM_000465.4:c.2314T>C NP_000456.2:p.Leu772= NC_000002.12:214728695:A:G p.(Leu772=) NC_000002.12:214728695:A:G p.(Leu772=) NC_000002.12:214728695:A:G Identity +NM_000059.4:c.8160A>G NP_000050.3:p.Glu2720= NC_000013.11:32363361:A:G p.(Glu2720=) NC_000013.11:32363361:A:G p.(Glu2720=) NC_000013.11:32363361:A:G Identity +NM_032043.3:c.3749A>G NP_114432.2:p.Ter1250= NC_000017.11:61683296:T:C p.(Ter1250=) NC_000017.11:61683296:T:C p.(Ter1250Ter) NC_000017.11:61683296:T:C Identity +NM_001195573.1:c.3243A>T NP_001182502.1:p.Gly1081= NC_000014.9:95105096:T:A p.(Gly1081=) NC_000014.9:95105096:T:A p.(Gly1081=) NC_000014.9:95105096:T:A Identity +NM_001346897.2:c.2109A>G NP_001333826.1:p.Arg703= NC_000007.14:55174780:A:G p.(Arg703=) NC_000007.14:55174780:A:G p.(Arg703=) NC_000007.14:55174780:A:G Identity +NM_002354.3:c.855G>C NP_002345.2:p.Val285= NC_000002.12:47379965:G:C p.(Val285=) NC_000002.12:47379965:G:C p.(Val285=) NC_000002.12:47379965:G:C Identity +NM_000222.3:c.2394C>A NP_000213.1:p.Ile798= NC_000004.12:54733101:C:A p.(Ile798=) NC_000004.12:54733101:C:A p.(Ile798=) NC_000004.12:54733101:C:A Identity +NM_000222.3:c.1584T>C NP_000213.1:p.Gly528= NC_000004.12:54727260:T:C p.(Gly528=) NC_000004.12:54727260:T:C p.(Gly528=) NC_000004.12:54727260:T:C Identity +NM_006767.4:c.1818C>A NP_006758.2:p.Ser606= NC_000022.11:20994901:C:A p.(Ser606=) NC_000022.11:20994901:C:A p.(Ser606=) NC_000022.11:20994901:C:A Identity +NM_006767.4:c.46C>T NP_006758.2:p.Leu16= NC_000022.11:20982416:C:T p.(Leu16=) NC_000022.11:20982416:C:T p.(Leu16=) NC_000022.11:20982416:C:T Identity +NM_000244.4:c.348G>A NP_000235.3:p.Glu116= NC_000011.10:64809761:C:T p.(Glu116=) NC_000011.10:64809761:C:T p.(Glu116=) NC_000011.10:64809761:C:T Identity +NM_000245.4:c.2997A>G NP_000236.2:p.Glu999= NC_000007.14:116771957:A:G p.(Glu999=) NC_000007.14:116771957:A:G p.(Glu999=) NC_000007.14:116771957:A:G Identity +NM_000248.4:c.696C>A NP_000239.1:p.Pro232= NC_000003.12:69956515:C:A p.(Pro232=) NC_000003.12:69956515:C:A p.(Pro232=) NC_000003.12:69956515:C:A Identity +NM_001330347.2:c.1329T>C NP_001317276.1:p.Asn443= NC_000011.10:94459578:A:G p.(Asn443=) NC_000011.10:94459578:A:G p.(Asn443=) NC_000011.10:94459578:A:G Identity +NM_002439.5:c.1152C>A NP_002430.3:p.Gly384= NC_000005.10:80675106:C:A p.(Gly384=) NC_000005.10:80675106:C:A p.(Gly384=) NC_000005.10:80675106:C:A Identity +NM_002439.5:c.1767A>G NP_002430.3:p.Glu589= NC_000005.10:80761548:A:G p.(Glu589=) NC_000005.10:80761548:A:G p.(Glu589=) NC_000005.10:80761548:A:G Identity +NM_001048173.2:c.972C>A NP_001041638.1:p.Thr324= NC_000001.11:45331790:G:T p.(Thr324=) NC_000001.11:45331790:G:T p.(Thr324=) NC_000001.11:45331790:G:T Identity +NM_000268.4:c.1545G>A NP_000259.1:p.Lys515= NC_000022.11:29678293:G:A p.(Lys515=) NC_000022.11:29678293:G:A p.(Lys515=) NC_000022.11:29678293:G:A Identity +NM_000268.4:c.597C>A NP_000259.1:p.Ala199= NC_000022.11:29655673:C:A p.(Ala199=) NC_000022.11:29655673:C:A p.(Ala199=) NC_000022.11:29655673:C:A Identity +NM_000038.6:c.192A>G NP_000029.2:p.Gly64= NC_000005.10:112766381:A:G p.(Gly64=) NC_000005.10:112766381:A:G p.(Gly64=) NC_000005.10:112766381:A:G Identity +NM_001407296.1:c.2064A>G NP_001394225.1:p.Leu688= NC_000016.10:23630029:T:C p.(Leu688=) NC_000016.10:23630029:T:C p.(Leu688=) NC_000016.10:23630029:T:C Identity +NM_001347828.2:c.3036A>G NP_001334757.1:p.Ala1012= NC_000004.12:54290392:A:G p.(Ala1012=) NC_000004.12:54290392:A:G p.(Ala1012=) NC_000004.12:54290392:A:G Identity +NM_003924.4:c.201G>A NP_003915.2:p.Leu67= NC_000004.12:41748409:C:T p.(Leu67=) NC_000004.12:41748409:C:T p.(Leu67=) NC_000004.12:41748409:C:T Identity +NM_002878.4:c.255C>G NP_002869.3:p.Gly85= NC_000017.11:35118508:G:C p.(Gly85=) NC_000017.11:35118508:G:C p.(Gly85=) NC_000017.11:35118508:G:C Identity +NM_001142571.2:c.595C>T NP_001136043.1:p.Leu199= NC_000017.11:35106426:G:A p.(Leu199=) NC_000017.11:35106426:G:A p.(Leu199=) NC_000017.11:35106426:G:A Identity +NM_000059.4:c.5250C>T NP_000050.3:p.Ser1750= NC_000013.11:32339604:C:T p.(Ser1750=) NC_000013.11:32339604:C:T p.(Ser1750=) NC_000013.11:32339604:C:T Identity +NM_000059.4:c.270G>C NP_000050.3:p.Leu90= NC_000013.11:32319278:G:C p.(Leu90=) NC_000013.11:32319278:G:C p.(Leu90=) NC_000013.11:32319278:G:C Identity +NM_001167595.2:c.45C>G NP_001161067.1:p.Ala15= NC_000005.10:34007974:G:C p.(Ala15=) NC_000005.10:34007974:G:C p.(Ala15=) NC_000005.10:34007974:G:C Identity +NM_005908.4:c.375A>G NP_005899.3:p.Arg125= NC_000004.12:102723864:T:C p.(Arg125=) NC_000004.12:102723864:T:C p.(Arg125=) NC_000004.12:102723864:T:C Identity +NM_000495.5:c.2349G>A NP_000486.1:p.Pro783= NC_000023.11:108606845:G:A p.(Pro783=) NC_000023.11:108606845:G:A p.(Pro783=) NC_000023.11:108606845:G:A Identity +NM_000335.5:c.87A>G NP_000326.2:p.Ala29= NC_000003.12:38633220:T:C p.(Ala29=) NC_000003.12:38633220:T:C p.(Ala29=) NC_000003.12:38633220:T:C Identity +NM_001142301.1:c.2649A>C NP_001135773.1:p.Thr883= NC_000008.11:93815431:A:C p.(Thr883=) NC_000008.11:93815431:A:C p.(Thr883=) NC_000008.11:93815431:A:C Identity +NM_000384.3:c.7545C>T NP_000375.3:p.Thr2515= NC_000002.12:21009322:G:A p.(Thr2515=) NC_000002.12:21009322:G:A p.(Thr2515=) NC_000002.12:21009322:G:A Identity +NM_000057.4:c.174T>C NP_000048.1:p.Pro58= NC_000015.10:90749441:T:C p.(Pro58=) NC_000015.10:90749441:T:C p.(Pro58=) NC_000015.10:90749441:T:C Identity +NM_000051.4:c.2442C>T NP_000042.3:p.Asp814= NC_000011.10:108259050:C:T p.(Asp814=) NC_000011.10:108259050:C:T p.(Asp814=) NC_000011.10:108259050:C:T Identity +NM_000336.3:c.1731C>T NP_000327.2:p.Thr577= NC_000016.10:23380608:C:T p.(Thr577=) NC_000016.10:23380608:C:T p.(Thr577=) NC_000016.10:23380608:C:T Identity +NM_001145853.1:c.911_914dup NP_001139325.1:p.Asp305_Met306insTer NC_000004.12:6300702:TGATTGA:TGATTGATTGA p.(Met306Ter) NC_000004.12:6300702:TGATTGA:TGATTGATTGA p.(Met306Ter) ERR:SPDI Analogous +NM_001127493.3:c.5436G>A NP_001120965.1:p.Arg1812= NC_000004.12:113373307:G:A p.(Arg1812=) NC_000004.12:113373307:G:A p.(Arg1812=) NC_000004.12:113373307:G:A Identity +NM_000118.4:c.1407G>A NP_000109.1:p.Pro469= NC_000009.12:127818736:C:T p.(Pro469=) NC_000009.12:127818736:C:T p.(Pro469=) NC_000009.12:127818736:C:T Identity +NM_000092.5:c.4932C>T NP_000083.3:p.Phe1644= NC_000002.12:227007465:G:A p.(Phe1644=) NC_000002.12:227007465:G:A p.(Phe1644=) NC_000002.12:227007465:G:A Identity +NM_001080522.2:c.2083A>C NP_001073991.2:p.Arg695= NC_000004.12:15540915:A:C p.(Arg695=) NC_000004.12:15540915:A:C p.(Arg695=) NC_000004.12:15540915:A:C Identity +NM_001148.6:c.7110A>G NP_001139.3:p.Gln2370= NC_000004.12:113355727:A:G p.(Gln2370=) NC_000004.12:113355727:A:G p.(Gln2370=) NC_000004.12:113355727:A:G Identity +NM_015681.6:c.580T>C NP_056496.1:p.Leu194= NC_000017.11:19343353:A:G p.(Leu194=) NC_000017.11:19343353:A:G p.(Leu194=) NC_000017.11:19343353:A:G Identity +NM_001321268.2:c.567G>A NP_001308197.1:p.Pro189= NC_000017.11:58207990:C:T p.(Pro189=) NC_000017.11:58207990:C:T p.(Pro189=) NC_000017.11:58207990:C:T Identity +NM_025114.4:c.6720A>G NP_079390.3:p.Gln2240= NC_000012.12:88058945:T:C p.(Gln2240=) NC_000012.12:88058945:T:C p.(Gln2240=) NC_000012.12:88058945:T:C Identity +NM_001080463.2:c.21C>T NP_001073932.1:p.Asp7= NC_000011.10:103109594:C:T p.(Asp7=) NC_000011.10:103109594:C:T p.(Asp7=) NC_000011.10:103109594:C:T Identity +NM_001080463.2:c.6420T>C NP_001073932.1:p.Asn2140= NC_000011.10:103181828:T:C p.(Asn2140=) NC_000011.10:103181828:T:C p.(Asn2140=) NC_000011.10:103181828:T:C Identity +NM_001080463.2:c.8580A>G NP_001073932.1:p.Glu2860= NC_000011.10:103211828:A:G p.(Glu2860=) NC_000011.10:103211828:A:G p.(Glu2860=) NC_000011.10:103211828:A:G Identity +NM_001080463.2:c.10173T>G NP_001073932.1:p.Ala3391= NC_000011.10:103253393:T:G p.(Ala3391=) NC_000011.10:103253393:T:G p.(Ala3391=) NC_000011.10:103253393:T:G Identity +NM_000336.3:c.753C>T NP_000327.2:p.Phe251= NC_000016.10:23355465:C:T p.(Phe251=) NC_000016.10:23355465:C:T p.(Phe251=) NC_000016.10:23355465:C:T Identity +NM_001127897.4:c.303G>A NP_001121369.1:p.Arg101= NC_000016.10:53692291:C:T p.(Arg101=) NC_000016.10:53692291:C:T p.(Arg101=) NC_000016.10:53692291:C:T Identity +NM_000121.4:c.168G>T NP_000112.1:p.Arg56= NC_000019.10:11383179:C:A p.(Arg56=) NC_000019.10:11383179:C:A p.(Arg56=) NC_000019.10:11383179:C:A Identity +NM_000121.4:c.24C>T NP_000112.1:p.Leu8= NC_000019.10:11384183:G:A p.(Leu8=) NC_000019.10:11384183:G:A p.(Leu8=) NC_000019.10:11384183:G:A Identity +NM_000384.3:c.5490C>G NP_000375.3:p.Ala1830= NC_000002.12:21011377:G:C p.(Ala1830=) NC_000002.12:21011377:G:C p.(Ala1830=) NC_000002.12:21011377:G:C Identity +NM_000335.5:c.1800G>A NP_000326.2:p.Val600= NC_000003.12:38603801:C:T p.(Val600=) NC_000003.12:38603801:C:T p.(Val600=) NC_000003.12:38603801:C:T Identity +NM_001386174.1:c.12456T>C NP_001373103.1:p.Asp4152= NC_000004.12:113381543:T:C p.(Asp4152=) NC_000004.12:113381543:T:C p.(Asp4152=) NC_000004.12:113381543:T:C Identity +NM_020632.3:c.735T>C NP_065683.2:p.Thr245= NC_000007.14:138755769:A:G p.(Thr245=) NC_000007.14:138755769:A:G p.(Thr245=) NC_000007.14:138755769:A:G Identity +NM_001127493.3:c.2520C>T NP_001120965.1:p.Tyr840= NC_000004.12:113311288:C:T p.(Tyr840=) NC_000004.12:113311288:C:T p.(Tyr840=) NC_000004.12:113311288:C:T Identity +NM_025114.4:c.1729C>T NP_079390.3:p.Leu577= NC_000012.12:88117127:G:A p.(Leu577=) NC_000012.12:88117127:G:A p.(Leu577=) NC_000012.12:88117127:G:A Identity +NM_025114.4:c.6882T>C NP_079390.3:p.Thr2294= NC_000012.12:88055653:A:G p.(Thr2294=) NC_000012.12:88055653:A:G p.(Thr2294=) NC_000012.12:88055653:A:G Identity +NM_001127493.3:c.1740T>C NP_001120965.1:p.His580= NC_000004.12:113278479:T:C p.(His580=) NC_000004.12:113278479:T:C p.(His580=) NC_000004.12:113278479:T:C Identity +NM_000059.4:c.7104G>A NP_000050.3:p.Leu2368= NC_000013.11:32354956:G:A p.(Leu2368=) NC_000013.11:32354956:G:A p.(Leu2368=) NC_000013.11:32354956:G:A Identity +NM_006218.4:c.2439A>G NP_006209.2:p.Thr813= NC_000003.12:179225983:A:G p.(Thr813=) NC_000003.12:179225983:A:G p.(Thr813=) NC_000003.12:179225983:A:G Identity +NM_001316690.1:c.2331C>T NP_001303619.1:p.Asn777= NC_000008.11:60865416:C:T p.(Asn777=) NC_000008.11:60865416:C:T p.(Asn777=) NC_000008.11:60865416:C:T Identity +NM_001253815.2:c.669T>C NP_001240744.1:p.Ser223= NC_000008.11:144360160:T:C p.(Ser223=) NC_000008.11:144360160:T:C p.(Ser223=) NC_000008.11:144360160:T:C Identity +NM_000384.3:c.8877G>A NP_000375.3:p.Leu2959= NC_000002.12:21007990:C:T p.(Leu2959=) NC_000002.12:21007990:C:T p.(Leu2959=) NC_000002.12:21007990:C:T Identity +NM_001173990.3:c.123A>T NP_001167461.1:p.Ile41= NC_000011.10:61393318:A:T p.(Ile41=) NC_000011.10:61393318:A:T p.(Ile41=) NC_000011.10:61393318:A:T Identity +NM_000098.3:c.1263T>C NP_000089.1:p.Asp421= NC_000001.11:53210936:T:C p.(Asp421=) NC_000001.11:53210936:T:C p.(Asp421=) NC_000001.11:53210936:T:C Identity +NM_006218.4:c.1356A>G NP_006209.2:p.Leu452= NC_000003.12:179210289:A:G p.(Leu452=) NC_000003.12:179210289:A:G p.(Leu452=) NC_000003.12:179210289:A:G Identity +NM_000384.3:c.7683T>C NP_000375.3:p.Leu2561= NC_000002.12:21009184:A:G p.(Leu2561=) NC_000002.12:21009184:A:G p.(Leu2561=) NC_000002.12:21009184:A:G Identity +NM_000384.3:c.900T>C NP_000375.3:p.Gly300= NC_000002.12:21034819:A:G p.(Gly300=) NC_000002.12:21034819:A:G p.(Gly300=) NC_000002.12:21034819:A:G Identity +NM_001042663.3:c.223GAG[8] NP_001036128.2:p.Glu80_Ser81insGluGlu NC_000001.11:6475950:CTCCTCCTCCTCCTCCTCC:CTCCTCCTCCTCCTCCTCCTCCTCC p.(Glu79_Glu80dup) NC_000001.11:6475967:C:CTCCTCCTCCTCCTCCTCCTCCTC ERR:Parse ERR:Parse Analogous +NM_001080522.2:c.1392C>A NP_001073991.2:p.Gly464= NC_000004.12:15528651:C:A p.(Gly464=) NC_000004.12:15528651:C:A p.(Gly464=) NC_000004.12:15528651:C:A Identity +NM_000384.3:c.543C>T NP_000375.3:p.Thr181= NC_000002.12:21037249:G:A p.(Thr181=) NC_000002.12:21037249:G:A p.(Thr181=) NC_000002.12:21037249:G:A Identity +NM_000384.3:c.8463G>T NP_000375.3:p.Pro2821= NC_000002.12:21008404:C:A p.(Pro2821=) NC_000002.12:21008404:C:A p.(Pro2821=) NC_000002.12:21008404:C:A Identity +NM_000384.3:c.4371A>G NP_000375.3:p.Ala1457= NC_000002.12:21012496:T:C p.(Ala1457=) NC_000002.12:21012496:T:C p.(Ala1457=) NC_000002.12:21012496:T:C Identity +NM_000384.3:c.3126G>A NP_000375.3:p.Ala1042= NC_000002.12:21016644:C:T p.(Ala1042=) NC_000002.12:21016644:C:T p.(Ala1042=) NC_000002.12:21016644:C:T Identity +NM_001007226.1:c.210A>T NP_001007227.1:p.Arg70= NC_000017.11:49619375:T:A p.(Arg70=) NC_000017.11:49619375:T:A p.(Arg70=) NC_000017.11:49619375:T:A Identity +NM_025114.4:c.5256G>A NP_079390.3:p.Arg1752= NC_000012.12:88079199:C:T p.(Arg1752=) NC_000012.12:88079199:C:T p.(Arg1752=) NC_000012.12:88079199:C:T Identity +NM_006218.4:c.1104T>C NP_006209.2:p.Cys368= NC_000003.12:179204546:T:C p.(Cys368=) NC_000003.12:179204546:T:C p.(Cys368=) NC_000003.12:179204546:T:C Identity +NM_000384.3:c.81C>G NP_000375.3:p.Ala27= NC_000002.12:21043864:G:C p.(Ala27=) NC_000002.12:21043864:G:C p.(Ala27=) NC_000002.12:21043864:G:C Identity +NM_025114.4:c.2697A>G NP_079390.3:p.Gln899= NC_000012.12:88106794:T:C p.(Gln899=) NC_000012.12:88106794:T:C p.(Gln899=) NC_000012.12:88106794:T:C Identity +NM_006218.4:c.1263A>G NP_006209.2:p.Pro421= NC_000003.12:179210196:A:G p.(Pro421=) NC_000003.12:179210196:A:G p.(Pro421=) NC_000003.12:179210196:A:G Identity +NM_001321269.2:c.204A>T NP_001308198.1:p.Pro68= NC_000017.11:58216722:T:A p.(Pro68=) NC_000017.11:58216722:T:A p.(Pro68=) NC_000017.11:58216722:T:A Identity +NM_025114.4:c.6909A>C NP_079390.3:p.Ala2303= NC_000012.12:88055626:T:G p.(Ala2303=) NC_000012.12:88055626:T:G p.(Ala2303=) NC_000012.12:88055626:T:G Identity +NM_001029835.2:c.1266T>C NP_001025006.1:p.Asn422= NC_000007.14:45075924:T:C p.(Asn422=) NC_000007.14:45075924:T:C p.(Asn422=) NC_000007.14:45075924:T:C Identity +NM_014423.4:c.3000A>G NP_055238.1:p.Val1000= NC_000005.10:132887525:T:C p.(Val1000=) NC_000005.10:132887525:T:C p.(Val1000=) NC_000005.10:132887525:T:C Identity +NM_001317122.2:c.1173C>T NP_001304051.1:p.Tyr391= NC_000001.11:35901979:C:T p.(Tyr391=) NC_000001.11:35901979:C:T p.? NC_000001.11:35901979:C:T Identity +NM_001159772.2:c.609C>T NP_001153244.1:p.Asp203= NC_000017.11:78997013:G:A p.(Asp203=) NC_000017.11:78997013:G:A p.(Asp203=) NC_000017.11:78997013:G:A Identity +NM_000384.3:c.12183G>A NP_000375.3:p.Glu4061= NC_000002.12:21003238:C:T p.(Glu4061=) NC_000002.12:21003238:C:T p.(Glu4061=) NC_000002.12:21003238:C:T Identity +NM_001318502.2:c.1047G>A NP_001305431.1:p.Glu349= NC_000009.12:136433266:C:T p.(Glu349=) NC_000009.12:136433266:C:T p.(Glu349=) NC_000009.12:136433266:C:T Identity +NM_001126054.3:c.132T>C NP_001119526.1:p.Asp44= NC_000023.11:41853154:A:G p.(Asp44=) NC_000023.11:41853154:A:G p.(Asp44=) NC_000023.11:41853154:A:G Identity +NM_001376.5:c.8307C>T NP_001367.2:p.Leu2769= NC_000014.9:102018579:C:T p.(Leu2769=) NC_000014.9:102018579:C:T p.(Leu2769=) NC_000014.9:102018579:C:T Identity +NM_006218.4:c.939A>G NP_006209.2:p.Thr313= NC_000003.12:179203668:A:G p.(Thr313=) NC_000003.12:179203668:A:G p.(Thr313=) NC_000003.12:179203668:A:G Identity +NM_000098.3:c.612C>T NP_000089.1:p.Ala204= NC_000001.11:53210285:C:T p.(Ala204=) NC_000001.11:53210285:C:T p.(Ala204=) NC_000001.11:53210285:C:T Identity +NM_000384.3:c.357T>G NP_000375.3:p.Ser119= NC_000002.12:21040963:A:C p.(Ser119=) NC_000002.12:21040963:A:C p.(Ser119=) NC_000002.12:21040963:A:C Identity +NM_003047.5:c.630C>T NP_003038.2:p.Ala210= NC_000001.11:27114008:G:A p.(Ala210=) NC_000001.11:27114008:G:A p.(Ala210=) NC_000001.11:27114008:G:A Identity +NM_000098.3:c.1872T>C NP_000089.1:p.Asn624= NC_000001.11:53213489:T:C p.(Asn624=) NC_000001.11:53213489:T:C p.(Asn624=) NC_000001.11:53213489:T:C Identity +NM_000098.3:c.1854C>T NP_000089.1:p.Asp618= NC_000001.11:53213471:C:T p.(Asp618=) NC_000001.11:53213471:C:T p.(Asp618=) NC_000001.11:53213471:C:T Identity +NM_006218.4:c.1343_1357del NP_006209.2:p.Val448_Leu452del NC_000003.12:179210274:AGTACCTCATGGATTAG:AG p.(Val448_Leu452del) NC_000003.12:179210274:AGTACCTCATGGATTAG:AG p.(Val448_Leu452del) NC_000003.12:179210276:TACCTCATGGATTAG: Identity +NM_001482.3:c.297A>G NP_001473.1:p.Thr99= NC_000015.10:45369512:T:C p.(Thr99=) NC_000015.10:45369512:T:C p.(Thr99=) NC_000015.10:45369512:T:C Identity +NM_007375.4:c.36C>T NP_031401.1:p.Asn12= NC_000001.11:11013762:C:T p.(Asn12=) NC_000001.11:11013762:C:T p.(Asn12=) NC_000001.11:11013762:C:T Identity +NM_000121.4:c.558C>A NP_000112.1:p.Ala186= NC_000019.10:11381718:G:T p.(Ala186=) NC_000019.10:11381718:G:T p.(Ala186=) NC_000019.10:11381718:G:T Identity +NM_001184705.4:c.264C>T NP_001171634.3:p.Ala88= NC_000004.12:108014432:C:T p.(Ala88=) NC_000004.12:108014432:C:T p.(Ala88=) NC_000004.12:108014432:C:T Identity +NM_000384.3:c.5490C>T NP_000375.3:p.Ala1830= NC_000002.12:21011377:G:A p.(Ala1830=) NC_000002.12:21011377:G:A p.(Ala1830=) NC_000002.12:21011377:G:A Identity +NM_000384.3:c.1710A>T NP_000375.3:p.Ser570= NC_000002.12:21028445:T:A p.(Ser570=) NC_000002.12:21028445:T:A p.(Ser570=) NC_000002.12:21028445:T:A Identity +NM_000384.3:c.11925C>T NP_000375.3:p.His3975= NC_000002.12:21004430:G:A p.(His3975=) NC_000002.12:21004430:G:A p.(His3975=) NC_000002.12:21004430:G:A Identity +NM_000384.3:c.11952C>T NP_000375.3:p.Thr3984= NC_000002.12:21004403:G:A p.(Thr3984=) NC_000002.12:21004403:G:A p.(Thr3984=) NC_000002.12:21004403:G:A Identity +NM_000384.3:c.9582T>C NP_000375.3:p.Cys3194= NC_000002.12:21007285:A:G p.(Cys3194=) NC_000002.12:21007285:A:G p.(Cys3194=) NC_000002.12:21007285:A:G Identity +NM_025114.4:c.5019A>G NP_079390.3:p.Gln1673= NC_000012.12:88080388:T:C p.(Gln1673=) NC_000012.12:88080388:T:C p.(Gln1673=) NC_000012.12:88080388:T:C Identity +NM_024312.5:c.654C>T NP_077288.2:p.Val218= NC_000012.12:101780268:G:A p.(Val218=) NC_000012.12:101780268:G:A p.(Val218=) NC_000012.12:101780268:G:A Identity +NM_001134793.2:c.846C>T NP_001128265.1:p.Asp282= NC_000011.10:125900213:C:T p.(Asp282=) NC_000011.10:125900213:C:T p.(Asp282=) NC_000011.10:125900213:C:T Identity +NM_000118.4:c.618C>A NP_000109.1:p.Gly206= NC_000009.12:127825765:G:T p.(Gly206=) NC_000009.12:127825765:G:T p.(Gly206=) NC_000009.12:127825765:G:T Identity +NM_025114.4:c.2544G>A NP_079390.3:p.Glu848= NC_000012.12:88107037:C:T p.(Glu848=) NC_000012.12:88107037:C:T p.(Glu848=) NC_000012.12:88107037:C:T Identity +NM_000098.3:c.801G>T NP_000089.1:p.Ser267= NC_000001.11:53210474:G:T p.(Ser267=) NC_000001.11:53210474:G:T p.(Ser267=) NC_000001.11:53210474:G:T Identity +NM_001321268.2:c.64C>T NP_001308197.1:p.Leu22= NC_000017.11:58213840:G:A p.(Leu22=) NC_000017.11:58213840:G:A p.(Leu22=) NC_000017.11:58213840:G:A Identity +NM_024312.5:c.1830A>G NP_077288.2:p.Thr610= NC_000012.12:101765086:T:C p.(Thr610=) NC_000012.12:101765086:T:C p.(Thr610=) NC_000012.12:101765086:T:C Identity +NM_001082537.3:c.939C>T NP_001076006.1:p.Asn313= NC_000012.12:110640477:C:T p.(Asn313=) NC_000012.12:110640477:C:T p.(Asn313=) NC_000012.12:110640477:C:T Identity +NM_001127897.4:c.582A>G NP_001121369.1:p.Thr194= NC_000016.10:53687912:T:C p.(Thr194=) NC_000016.10:53687912:T:C p.(Thr194=) NC_000016.10:53687912:T:C Identity +NM_025114.4:c.4123T>C NP_079390.3:p.Leu1375= NC_000012.12:88087850:A:G p.(Leu1375=) NC_000012.12:88087850:A:G p.(Leu1375=) NC_000012.12:88087850:A:G Identity +NM_001321268.2:c.462C>T NP_001308197.1:p.Thr154= NC_000017.11:58208536:G:A p.(Thr154=) NC_000017.11:58208536:G:A p.(Thr154=) NC_000017.11:58208536:G:A Identity +NM_000384.3:c.1869A>G NP_000375.3:p.Gln623= NC_000002.12:21028025:T:C p.(Gln623=) NC_000002.12:21028025:T:C p.(Gln623=) NC_000002.12:21028025:T:C Identity +NM_006218.4:c.171C>G NP_006209.2:p.Pro57= NC_000003.12:179198995:C:G p.(Pro57=) NC_000003.12:179198995:C:G p.(Pro57=) NC_000003.12:179198995:C:G Identity +NM_025114.4:c.4833C>T NP_079390.3:p.Pro1611= NC_000012.12:88083209:G:A p.(Pro1611=) NC_000012.12:88083209:G:A p.(Pro1611=) NC_000012.12:88083209:G:A Identity +NM_001014797.3:c.70A>C NP_001014797.1:p.Arg24= NC_000010.11:77637572:T:G p.(Arg24=) NC_000010.11:77637572:T:G p.(Arg24=) NC_000010.11:77637572:T:G Identity +NM_000384.3:c.9585G>A NP_000375.3:p.Glu3195= NC_000002.12:21007282:C:T p.(Glu3195=) NC_000002.12:21007282:C:T p.(Glu3195=) NC_000002.12:21007282:C:T Identity +NM_000384.3:c.8658C>T NP_000375.3:p.Asn2886= NC_000002.12:21008209:G:A p.(Asn2886=) NC_000002.12:21008209:G:A p.(Asn2886=) NC_000002.12:21008209:G:A Identity +NM_000098.3:c.1389T>C NP_000089.1:p.Pro463= NC_000001.11:53211062:T:C p.(Pro463=) NC_000001.11:53211062:T:C p.(Pro463=) NC_000001.11:53211062:T:C Identity +NM_001293557.2:c.2304G>C NP_001280486.1:p.Leu768= NC_000016.10:50712295:G:C p.(Leu768=) NC_000016.10:50712295:G:C p.(Leu768=) NC_000016.10:50712295:G:C Identity +NM_024312.5:c.1047C>T NP_077288.2:p.Val349= NC_000012.12:101770471:G:A p.(Val349=) NC_000012.12:101770471:G:A p.(Val349=) NC_000012.12:101770471:G:A Identity +NM_006218.4:c.2421A>G NP_006209.2:p.Leu807= NC_000003.12:179225965:A:G p.(Leu807=) NC_000003.12:179225965:A:G p.(Leu807=) NC_000003.12:179225965:A:G Identity +NM_000098.3:c.1779C>T NP_000089.1:p.Ser593= NC_000001.11:53213396:C:T p.(Ser593=) NC_000001.11:53213396:C:T p.(Ser593=) NC_000001.11:53213396:C:T Identity +NM_000965.5:c.264A>T NP_000956.2:p.Ser88= NC_000003.12:25461298:A:T p.(Ser88=) NC_000003.12:25461298:A:T p.(Ser88=) NC_000003.12:25461298:A:T Identity +NM_001126054.3:c.1473A>G NP_001119526.1:p.Val491= NC_000023.11:41578369:T:C p.(Val491=) NC_000023.11:41578369:T:C p.(Val491=) NC_000023.11:41578369:T:C Identity +NM_001127897.4:c.2919G>A NP_001121369.1:p.Lys973= NC_000016.10:53641071:C:T p.(Lys973=) NC_000016.10:53641071:C:T p.(Lys973=) NC_000016.10:53641071:C:T Identity +NM_001321269.2:c.201C>G NP_001308198.1:p.Arg67= NC_000017.11:58216725:G:C p.(Arg67=) NC_000017.11:58216725:G:C p.(Arg67=) NC_000017.11:58216725:G:C Identity +NM_001321269.2:c.30C>A NP_001308198.1:p.Thr10= NC_000017.11:58219200:G:T p.(Thr10=) NC_000017.11:58219200:G:T p.(Thr10=) NC_000017.11:58219200:G:T Identity +NM_000384.3:c.3384T>A NP_000375.3:p.Arg1128= NC_000002.12:21015493:A:T p.(Arg1128=) NC_000002.12:21015493:A:T p.(Arg1128=) NC_000002.12:21015493:A:T Identity +NM_025114.4:c.966T>C NP_079390.3:p.Asp322= NC_000012.12:88126414:A:G p.(Asp322=) NC_000012.12:88126414:A:G p.(Asp322=) NC_000012.12:88126414:A:G Identity +NM_006218.4:c.267T>G NP_006209.2:p.Leu89= NC_000003.12:179199091:T:G p.(Leu89=) NC_000003.12:179199091:T:G p.(Leu89=) NC_000003.12:179199091:T:G Identity +NM_001318502.2:c.825G>A NP_001305431.1:p.Glu275= NC_000009.12:136434850:C:T p.(Glu275=) NC_000009.12:136434850:C:T p.(Glu275=) NC_000009.12:136434850:C:T Identity +NM_024312.5:c.645T>C NP_077288.2:p.Asp215= NC_000012.12:101780277:A:G p.(Asp215=) NC_000012.12:101780277:A:G p.(Asp215=) NC_000012.12:101780277:A:G Identity +NM_025114.4:c.6369T>C NP_079390.3:p.Ser2123= NC_000012.12:88060982:A:G p.(Ser2123=) NC_000012.12:88060982:A:G p.(Ser2123=) NC_000012.12:88060982:A:G Identity +NM_001134830.2:c.3498A>G NP_001128302.1:p.Arg1166= NC_000006.12:135290512:T:C p.(Arg1166=) NC_000006.12:135290512:T:C p.(Arg1166=) NC_000006.12:135290512:T:C Identity +NM_024312.5:c.735A>C NP_077288.2:p.Thr245= NC_000012.12:101780187:T:G p.(Thr245=) NC_000012.12:101780187:T:G p.(Thr245=) NC_000012.12:101780187:T:G Identity +NM_001318502.2:c.1486C>T NP_001305431.1:p.Leu496= NC_000009.12:136431883:G:A p.(Leu496=) NC_000009.12:136431883:G:A p.(Leu496=) NC_000009.12:136431883:G:A Identity +NM_001134830.2:c.456T>G NP_001128302.1:p.Ser152= NC_000006.12:135466106:A:C p.(Ser152=) NC_000006.12:135466106:A:C p.(Ser152=) NC_000006.12:135466106:A:C Identity +NM_001321268.2:c.120G>C NP_001308197.1:p.Thr40= NC_000017.11:58213784:C:G p.(Thr40=) NC_000017.11:58213784:C:G p.(Thr40=) NC_000017.11:58213784:C:G Identity +NM_001126054.3:c.69C>T NP_001119526.1:p.Phe23= NC_000023.11:41853217:G:A p.(Phe23=) NC_000023.11:41853217:G:A p.(Phe23=) NC_000023.11:41853217:G:A Identity +NM_024312.5:c.6G>C NP_077288.2:p.Leu2= NC_000012.12:101830669:C:G p.(Leu2=) NC_000012.12:101830669:C:G p.(Leu2=) NC_000012.12:101830669:C:G Identity +NM_001321269.2:c.324T>C NP_001308198.1:p.Arg108= NC_000017.11:58216180:A:G p.(Arg108=) NC_000017.11:58216180:A:G p.(Arg108=) NC_000017.11:58216180:A:G Identity +NM_001318502.2:c.363C>T NP_001305431.1:p.Pro121= NC_000009.12:136439056:G:A p.(Pro121=) NC_000009.12:136439056:G:A p.(Pro121=) NC_000009.12:136439056:G:A Identity +NM_025114.4:c.6084A>G NP_079390.3:p.Lys2028= NC_000012.12:88068572:T:C p.(Lys2028=) NC_000012.12:88068572:T:C p.(Lys2028=) NC_000012.12:88068572:T:C Identity +NM_024312.5:c.2289G>C NP_077288.2:p.Val763= NC_000012.12:101764627:C:G p.(Val763=) NC_000012.12:101764627:C:G p.(Val763=) NC_000012.12:101764627:C:G Identity +NM_001127897.4:c.654A>G NP_001121369.1:p.Gln218= NC_000016.10:53686554:T:C p.(Gln218=) NC_000016.10:53686554:T:C p.(Gln218=) NC_000016.10:53686554:T:C Identity +NM_007375.4:c.699A>G NP_031401.1:p.Thr233= NC_000001.11:11020583:A:G p.(Thr233=) NC_000001.11:11020583:A:G p.(Thr233=) NC_000001.11:11020583:A:G Identity +NM_000098.3:c.627G>A NP_000089.1:p.Ala209= NC_000001.11:53210300:G:A p.(Ala209=) NC_000001.11:53210300:G:A p.(Ala209=) NC_000001.11:53210300:G:A Identity +NM_001321269.2:c.252C>T NP_001308198.1:p.Leu84= NC_000017.11:58216674:G:A p.(Leu84=) NC_000017.11:58216674:G:A p.(Leu84=) NC_000017.11:58216674:G:A Identity +NM_025114.4:c.318T>G NP_079390.3:p.Gly106= NC_000012.12:88136765:A:C p.(Gly106=) NC_000012.12:88136765:A:C p.(Gly106=) NC_000012.12:88136765:A:C Identity +NM_001306090.2:c.2349C>T NP_001293019.1:p.Ser783= NC_000004.12:5801993:C:T p.(Ser783=) NC_000004.12:5801993:C:T p.(Ser783=) NC_000004.12:5801993:C:T Identity +NM_006218.4:c.2568T>A NP_006209.2:p.Thr856= NC_000003.12:179229343:T:A p.(Thr856=) NC_000003.12:179229343:T:A p.(Thr856=) NC_000003.12:179229343:T:A Identity +NM_025114.4:c.1963T>C NP_079390.3:p.Leu655= NC_000012.12:88114508:A:G p.(Leu655=) NC_000012.12:88114508:A:G p.(Leu655=) NC_000012.12:88114508:A:G Identity +NM_001321214.2:c.381G>A NP_001308143.1:p.Thr127= NC_000017.11:19347291:C:T p.(Thr127=) NC_000017.11:19347291:C:T p.(Thr127=) NC_000017.11:19347291:C:T Identity +NM_001142649.2:c.339G>A NP_001136121.1:p.Glu113= NC_000011.10:22226030:G:A p.(Glu113=) NC_000011.10:22226030:G:A p.(Glu113=) NC_000011.10:22226030:G:A Identity +NM_025114.4:c.4614T>C NP_079390.3:p.Ala1538= NC_000012.12:88084675:A:G p.(Ala1538=) NC_000012.12:88084675:A:G p.(Ala1538=) NC_000012.12:88084675:A:G Identity +NM_001126054.3:c.1362T>C NP_001119526.1:p.Asp454= NC_000023.11:41578480:A:G p.(Asp454=) NC_000023.11:41578480:A:G p.(Asp454=) NC_000023.11:41578480:A:G Identity +NM_001145853.1:c.1737G>A NP_001139325.1:p.Leu579= NC_000004.12:6301531:G:A p.(Leu579=) NC_000004.12:6301531:G:A p.(Leu579=) NC_000004.12:6301531:G:A Identity +NM_001111125.3:c.2937C>T NP_001104595.1:p.Tyr979= NC_000023.11:53241861:G:A p.(Tyr979=) NC_000023.11:53241861:G:A p.(Tyr979=) NC_000023.11:53241861:G:A Identity +NM_000721.4:c.3147C>T NP_000712.2:p.Ser1049= NC_000001.11:181733634:C:T p.(Ser1049=) NC_000001.11:181733634:C:T p.(Ser1049=) NC_000001.11:181733634:C:T Identity +NM_000384.3:c.12846G>A NP_000375.3:p.Glu4282= NC_000002.12:21002575:C:T p.(Glu4282=) NC_000002.12:21002575:C:T p.(Glu4282=) NC_000002.12:21002575:C:T Identity +NM_025114.4:c.2890C>T NP_079390.3:p.Leu964= NC_000012.12:88102938:G:A p.(Leu964=) NC_000012.12:88102938:G:A p.(Leu964=) NC_000012.12:88102938:G:A Identity +NM_000384.3:c.3822A>G NP_000375.3:p.Pro1274= NC_000002.12:21014467:T:C p.(Pro1274=) NC_000002.12:21014467:T:C p.(Pro1274=) NC_000002.12:21014467:T:C Identity +NM_001127897.4:c.282G>T NP_001121369.1:p.Arg94= NC_000016.10:53692312:C:A p.(Arg94=) NC_000016.10:53692312:C:A p.(Arg94=) NC_000016.10:53692312:C:A Identity +NM_025114.4:c.4683T>A NP_079390.3:p.Arg1561= NC_000012.12:88084606:A:T p.(Arg1561=) NC_000012.12:88084606:A:T p.(Arg1561=) NC_000012.12:88084606:A:T Identity +NM_025114.4:c.4677T>C NP_079390.3:p.Tyr1559= NC_000012.12:88084612:A:G p.(Tyr1559=) NC_000012.12:88084612:A:G p.(Tyr1559=) NC_000012.12:88084612:A:G Identity +NM_024312.5:c.3363C>T NP_077288.2:p.Ile1121= NC_000012.12:101757282:G:A p.(Ile1121=) NC_000012.12:101757282:G:A p.(Ile1121=) NC_000012.12:101757282:G:A Identity +NM_025114.4:c.1107A>G NP_079390.3:p.Glu369= NC_000012.12:88125327:T:C p.(Glu369=) NC_000012.12:88125327:T:C p.(Glu369=) NC_000012.12:88125327:T:C Identity +NM_001318245.2:c.3969A>G NP_001305174.1:p.Ala1323= NC_000022.11:25874299:A:G p.(Ala1323=) NC_000022.11:25874299:A:G p.(Ala1323=) NC_000022.11:25874299:A:G Identity +NM_001143850.3:c.279G>C NP_001137322.1:p.Val93= NC_000012.12:123673628:G:C p.(Val93=) NC_000012.12:123673628:G:C p.(Val93=) NC_000012.12:123673628:G:C Identity +NM_025114.4:c.6196T>C NP_079390.3:p.Leu2066= NC_000012.12:88064054:A:G p.(Leu2066=) NC_000012.12:88064054:A:G p.(Leu2066=) NC_000012.12:88064054:A:G Identity +NM_001142301.1:c.2145G>C NP_001135773.1:p.Gly715= NC_000008.11:93804826:G:C p.(Gly715=) NC_000008.11:93804826:G:C p.(Gly715=) NC_000008.11:93804826:G:C Identity +NM_001143850.3:c.441T>C NP_001137322.1:p.Ser147= NC_000012.12:123673790:T:C p.(Ser147=) NC_000012.12:123673790:T:C p.(Ser147=) NC_000012.12:123673790:T:C Identity +NM_001142649.2:c.2350C>T NP_001136121.1:p.Leu784= NC_000011.10:22274685:C:T p.(Leu784=) NC_000011.10:22274685:C:T p.(Leu784=) NC_000011.10:22274685:C:T Identity +NM_000384.3:c.8982C>T NP_000375.3:p.Ser2994= NC_000002.12:21007885:G:A p.(Ser2994=) NC_000002.12:21007885:G:A p.(Ser2994=) NC_000002.12:21007885:G:A Identity +NM_000384.3:c.5388T>C NP_000375.3:p.Thr1796= NC_000002.12:21011479:A:G p.(Thr1796=) NC_000002.12:21011479:A:G p.(Thr1796=) NC_000002.12:21011479:A:G Identity +NM_000098.3:c.555T>C NP_000089.1:p.Thr185= NC_000001.11:53210228:T:C p.(Thr185=) NC_000001.11:53210228:T:C p.(Thr185=) NC_000001.11:53210228:T:C Identity +NM_025114.4:c.3972A>G NP_079390.3:p.Lys1324= NC_000012.12:88089088:T:C p.(Lys1324=) NC_000012.12:88089088:T:C p.(Lys1324=) NC_000012.12:88089088:T:C Identity +NM_001321214.2:c.99C>T NP_001308143.1:p.Cys33= NC_000017.11:19360352:G:A p.(Cys33=) NC_000017.11:19360352:G:A p.(Cys33=) NC_000017.11:19360352:G:A Identity +NM_001082537.3:c.621T>C NP_001076006.1:p.Tyr207= NC_000012.12:110628914:T:C p.(Tyr207=) NC_000012.12:110628914:T:C p.(Tyr207=) NC_000012.12:110628914:T:C Identity +NM_024312.5:c.3102T>C NP_077288.2:p.Ala1034= NC_000012.12:101761159:A:G p.(Ala1034=) NC_000012.12:101761159:A:G p.(Ala1034=) NC_000012.12:101761159:A:G Identity +NM_001134830.2:c.2052A>G NP_001128302.1:p.Glu684= NC_000006.12:135433240:T:C p.(Glu684=) NC_000006.12:135433240:T:C p.(Glu684=) NC_000006.12:135433240:T:C Identity +NM_001253815.2:c.123T>C NP_001240744.1:p.Leu41= NC_000008.11:144359415:T:C p.(Leu41=) NC_000008.11:144359415:T:C p.(Leu41=) NC_000008.11:144359415:T:C Identity +NM_001126054.3:c.1275A>G NP_001119526.1:p.Ala425= NC_000023.11:41586945:T:C p.(Ala425=) NC_000023.11:41586945:T:C p.(Ala425=) NC_000023.11:41586945:T:C Identity +NM_001318502.2:c.1017G>A NP_001305431.1:p.Gln339= NC_000009.12:136434053:C:T p.(Gln339=) NC_000009.12:136434053:C:T p.(Gln339=) NC_000009.12:136434053:C:T Identity +NM_001349485.2:c.576C>T NP_001336414.1:p.Asp192= NC_000008.11:125357767:C:T p.(Asp192=) NC_000008.11:125357767:C:T p.(Asp192=) NC_000008.11:125357767:C:T Identity +NM_001142301.1:c.1965T>C NP_001135773.1:p.Ser655= NC_000008.11:93799724:T:C p.(Ser655=) NC_000008.11:93799724:T:C p.(Ser655=) NC_000008.11:93799724:T:C Identity +NM_001318502.2:c.1626C>T NP_001305431.1:p.Tyr542= NC_000009.12:136431037:G:A p.(Tyr542=) NC_000009.12:136431037:G:A p.(Tyr542=) NC_000009.12:136431037:G:A Identity +NM_024312.5:c.99C>T NP_077288.2:p.Ser33= NC_000012.12:101830576:G:A p.(Ser33=) NC_000012.12:101830576:G:A p.(Ser33=) NC_000012.12:101830576:G:A Identity +NM_000384.3:c.9447T>C NP_000375.3:p.Asp3149= NC_000002.12:21007420:A:G p.(Asp3149=) NC_000002.12:21007420:A:G p.(Asp3149=) NC_000002.12:21007420:A:G Identity +NM_001134830.2:c.2169G>T NP_001128302.1:p.Arg723= NC_000006.12:135433123:C:A p.(Arg723=) NC_000006.12:135433123:C:A p.(Arg723=) NC_000006.12:135433123:C:A Identity +NM_000384.3:c.5454C>T NP_000375.3:p.Pro1818= NC_000002.12:21011413:G:A p.(Pro1818=) NC_000002.12:21011413:G:A p.(Pro1818=) NC_000002.12:21011413:G:A Identity +NM_025114.4:c.6291G>A NP_079390.3:p.Lys2097= NC_000012.12:88062757:C:T p.(Lys2097=) NC_000012.12:88062757:C:T p.(Lys2097=) NC_000012.12:88062757:C:T Identity +NM_024312.5:c.666G>A NP_077288.2:p.Val222= NC_000012.12:101780256:C:T p.(Val222=) NC_000012.12:101780256:C:T p.(Val222=) NC_000012.12:101780256:C:T Identity +NM_024312.5:c.1965C>T NP_077288.2:p.Pro655= NC_000012.12:101764951:G:A p.(Pro655=) NC_000012.12:101764951:G:A p.(Pro655=) NC_000012.12:101764951:G:A Identity +NM_006218.4:c.3060A>G NP_006209.2:p.Ala1020= NC_000003.12:179234216:A:G p.(Ala1020=) NC_000003.12:179234216:A:G p.(Ala1020=) NC_000003.12:179234216:A:G Identity +NM_001142301.1:c.1158A>G NP_001135773.1:p.Gln386= NC_000008.11:93786334:A:G p.(Gln386=) NC_000008.11:93786334:A:G p.(Gln386=) NC_000008.11:93786334:A:G Identity +NM_001134830.2:c.1683G>A NP_001128302.1:p.Val561= NC_000006.12:135447103:C:T p.(Val561=) NC_000006.12:135447103:C:T p.(Val561=) NC_000006.12:135447103:C:T Identity +NM_025114.4:c.2073A>G NP_079390.3:p.Ala691= NC_000012.12:88111837:T:C p.(Ala691=) NC_000012.12:88111837:T:C p.(Ala691=) NC_000012.12:88111837:T:C Identity +NM_001143850.3:c.27T>G NP_001137322.1:p.Leu9= NC_000012.12:123671266:T:G p.(Leu9=) NC_000012.12:123671266:T:G p.(Leu9=) NC_000012.12:123671266:T:G Identity +NM_001143850.3:c.1848C>T NP_001137322.1:p.Val616= NC_000012.12:123706806:C:T p.(Val616=) NC_000012.12:123706806:C:T p.(Val616=) NC_000012.12:123706806:C:T Identity +NM_024312.5:c.3747T>C NP_077288.2:p.Ala1249= NC_000012.12:101747187:A:G p.(Ala1249=) NC_000012.12:101747187:A:G p.(Ala1249=) NC_000012.12:101747187:A:G Identity +NM_025114.4:c.2940G>A NP_079390.3:p.Leu980= NC_000012.12:88102888:C:T p.(Leu980=) NC_000012.12:88102888:C:T p.(Leu980=) NC_000012.12:88102888:C:T Identity +NM_001126054.3:c.1551A>G NP_001119526.1:p.Arg517= NC_000023.11:41569698:T:C p.(Arg517=) NC_000023.11:41569698:T:C p.(Arg517=) NC_000023.11:41569698:T:C Identity +NM_000384.3:c.5847C>T NP_000375.3:p.Ser1949= NC_000002.12:21011020:G:A p.(Ser1949=) NC_000002.12:21011020:G:A p.(Ser1949=) NC_000002.12:21011020:G:A Identity +NM_000538.4:c.150A>G NP_000529.1:p.Gln50= NC_000013.11:36819506:A:G p.(Gln50=) NC_000013.11:36819506:A:G p.(Gln50=) NC_000013.11:36819506:A:G Identity +NM_000098.3:c.837C>T NP_000089.1:p.Asp279= NC_000001.11:53210510:C:T p.(Asp279=) NC_000001.11:53210510:C:T p.(Asp279=) NC_000001.11:53210510:C:T Identity +NM_000384.3:c.7836C>T NP_000375.3:p.Phe2612= NC_000002.12:21009031:G:A p.(Phe2612=) NC_000002.12:21009031:G:A p.(Phe2612=) NC_000002.12:21009031:G:A Identity +NM_001142649.2:c.231G>A NP_001136121.1:p.Arg77= NC_000011.10:22221149:G:A p.(Arg77=) NC_000011.10:22221149:G:A p.(Arg77=) NC_000011.10:22221149:G:A Identity +NM_025114.4:c.5784G>A NP_079390.3:p.Lys1928= NC_000012.12:88071851:C:T p.(Lys1928=) NC_000012.12:88071851:C:T p.(Lys1928=) NC_000012.12:88071851:C:T Identity +NM_001134830.2:c.1516C>A NP_001128302.1:p.Arg506= NC_000006.12:135448399:G:T p.(Arg506=) NC_000006.12:135448399:G:T p.(Arg506=) NC_000006.12:135448399:G:T Identity +NM_024312.5:c.3156C>T NP_077288.2:p.His1052= NC_000012.12:101760122:G:A p.(His1052=) NC_000012.12:101760122:G:A p.(His1052=) NC_000012.12:101760122:G:A Identity +NM_025114.4:c.5689C>T NP_079390.3:p.Leu1897= NC_000012.12:88077241:G:A p.(Leu1897=) NC_000012.12:88077241:G:A p.(Leu1897=) NC_000012.12:88077241:G:A Identity +NM_006218.4:c.1743C>G NP_006209.2:p.Ala581= NC_000003.12:179219273:C:G p.(Ala581=) NC_000003.12:179219273:C:G p.(Ala581=) NC_000003.12:179219273:C:G Identity +NM_000098.3:c.60C>T NP_000089.1:p.Ala20= NC_000001.11:53197002:C:T p.(Ala20=) NC_000001.11:53197002:C:T p.(Ala20=) NC_000001.11:53197002:C:T Identity +NM_000384.3:c.3210T>C NP_000375.3:p.Asp1070= NC_000002.12:21016560:A:G p.(Asp1070=) NC_000002.12:21016560:A:G p.(Asp1070=) NC_000002.12:21016560:A:G Identity +NM_006218.4:c.609C>T NP_006209.2:p.Asp203= NC_000003.12:179201335:C:T p.(Asp203=) NC_000003.12:179201335:C:T p.(Asp203=) NC_000003.12:179201335:C:T Identity +NM_000384.3:c.2373C>T NP_000375.3:p.Asp791= NC_000002.12:21024995:G:A p.(Asp791=) NC_000002.12:21024995:G:A p.(Asp791=) NC_000002.12:21024995:G:A Identity +NM_001321269.2:c.381C>G NP_001308198.1:p.Thr127= NC_000017.11:58216123:G:C p.(Thr127=) NC_000017.11:58216123:G:C p.(Thr127=) NC_000017.11:58216123:G:C Identity +NM_001411144.1:c.856C>T NP_001398073.1:p.Leu286= NC_000019.10:3590093:C:T p.(Leu286=) NC_000019.10:3590093:C:T p.(Leu286=) NC_000019.10:3590093:C:T Identity +NM_000384.3:c.4149C>T NP_000375.3:p.Phe1383= NC_000002.12:21013226:G:A p.(Phe1383=) NC_000002.12:21013226:G:A p.(Phe1383=) NC_000002.12:21013226:G:A Identity +NM_001143850.3:c.1878C>G NP_001137322.1:p.Pro626= NC_000012.12:123706836:C:G p.(Pro626=) NC_000012.12:123706836:C:G p.(Pro626=) NC_000012.12:123706836:C:G Identity +NM_001127897.4:c.2571G>A NP_001121369.1:p.Lys857= NC_000016.10:53645736:C:T p.(Lys857=) NC_000016.10:53645736:C:T p.(Lys857=) NC_000016.10:53645736:C:T Identity +NM_024312.5:c.543A>C NP_077288.2:p.Ser181= NC_000012.12:101786039:T:G p.(Ser181=) NC_000012.12:101786039:T:G p.(Ser181=) NC_000012.12:101786039:T:G Identity +LRG_698t2:c.201T>A LRG_698p2:p.Leu67= NC_000011.10:61393947:T:A ERR:Data provider error: ValueError: Transcript LRG_698t2 not found ERR:Data provider error: ValueError: Transcript LRG_698t2 not found ERR:AlignmentMapper(tx_ac=LRG_698t2, alt_ac=LRG_698t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_698t2, alt_ac=LRG_698t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_698t2 not found +NM_024312.5:c.3195C>T NP_077288.2:p.Ile1065= NC_000012.12:101760083:G:A p.(Ile1065=) NC_000012.12:101760083:G:A p.(Ile1065=) NC_000012.12:101760083:G:A Identity +NM_025114.4:c.348A>G NP_079390.3:p.Glu116= NC_000012.12:88136735:T:C p.(Glu116=) NC_000012.12:88136735:T:C p.(Glu116=) NC_000012.12:88136735:T:C Identity +NM_000384.3:c.1596G>A NP_000375.3:p.Arg532= NC_000002.12:21029659:C:T p.(Arg532=) NC_000002.12:21029659:C:T p.(Arg532=) NC_000002.12:21029659:C:T Identity +NM_000384.3:c.927A>G NP_000375.3:p.Ala309= NC_000002.12:21033495:T:C p.(Ala309=) NC_000002.12:21033495:T:C p.(Ala309=) NC_000002.12:21033495:T:C Identity +NM_001126054.3:c.462C>T NP_001119526.1:p.Asn154= NC_000023.11:41671497:G:A p.(Asn154=) NC_000023.11:41671497:G:A p.(Asn154=) NC_000023.11:41671497:G:A Identity +NM_024312.5:c.2712C>G NP_077288.2:p.Leu904= NC_000012.12:101764204:G:C p.(Leu904=) NC_000012.12:101764204:G:C p.(Leu904=) NC_000012.12:101764204:G:C Identity +NM_025114.4:c.6372A>G NP_079390.3:p.Gly2124= NC_000012.12:88060979:T:C p.(Gly2124=) NC_000012.12:88060979:T:C p.(Gly2124=) NC_000012.12:88060979:T:C Identity +NM_025114.4:c.4950T>C NP_079390.3:p.Asp1650= NC_000012.12:88083092:A:G p.(Asp1650=) NC_000012.12:88083092:A:G p.(Asp1650=) NC_000012.12:88083092:A:G Identity +NM_000384.3:c.12819G>A NP_000375.3:p.Leu4273= NC_000002.12:21002602:C:T p.(Leu4273=) NC_000002.12:21002602:C:T p.(Leu4273=) NC_000002.12:21002602:C:T Identity +NM_001256468.2:c.4638C>T NP_001243397.1:p.Ser1546= NC_000010.11:75030010:C:T p.(Ser1546=) NC_000010.11:75030010:C:T p.(Ser1546=) NC_000010.11:75030010:C:T Identity +NM_001244580.2:c.615G>A NP_001231509.1:p.Glu205= NC_000007.14:98897847:G:A p.(Glu205=) NC_000007.14:98897847:G:A p.(Glu205=) NC_000007.14:98897847:G:A Identity +NM_025114.4:c.6972T>C NP_079390.3:p.Leu2324= NC_000012.12:88054401:A:G p.(Leu2324=) NC_000012.12:88054401:A:G p.(Leu2324=) NC_000012.12:88054401:A:G Identity +NM_000384.3:c.12423C>T NP_000375.3:p.Tyr4141= NC_000002.12:21002998:G:A p.(Tyr4141=) NC_000002.12:21002998:G:A p.(Tyr4141=) NC_000002.12:21002998:G:A Identity +NM_001142301.1:c.1587C>T NP_001135773.1:p.Val529= NC_000008.11:93795956:C:T p.(Val529=) NC_000008.11:93795956:C:T p.(Val529=) NC_000008.11:93795956:C:T Identity +NM_000384.3:c.6336A>G NP_000375.3:p.Arg2112= NC_000002.12:21010531:T:C p.(Arg2112=) NC_000002.12:21010531:T:C p.(Arg2112=) NC_000002.12:21010531:T:C Identity +NM_000384.3:c.3591C>T NP_000375.3:p.Leu1197= NC_000002.12:21015177:G:A p.(Leu1197=) NC_000002.12:21015177:G:A p.(Leu1197=) NC_000002.12:21015177:G:A Identity +NM_024312.5:c.2421C>G NP_077288.2:p.Pro807= NC_000012.12:101764495:G:C p.(Pro807=) NC_000012.12:101764495:G:C p.(Pro807=) NC_000012.12:101764495:G:C Identity +NM_001330209.2:c.2475C>T NP_001317138.1:p.His825= NC_000023.11:13763850:C:T p.(His825=) NC_000023.11:13763850:C:T p.(His825=) NC_000023.11:13763850:C:T Identity +NM_000384.3:c.8886G>A NP_000375.3:p.Lys2962= NC_000002.12:21007981:C:T p.(Lys2962=) NC_000002.12:21007981:C:T p.(Lys2962=) NC_000002.12:21007981:C:T Identity +NM_001145853.1:c.1359C>T NP_001139325.1:p.Pro453= NC_000004.12:6301153:C:T p.(Pro453=) NC_000004.12:6301153:C:T p.(Pro453=) NC_000004.12:6301153:C:T Identity +NM_000098.3:c.474T>C NP_000089.1:p.Ser158= NC_000001.11:53210147:T:C p.(Ser158=) NC_000001.11:53210147:T:C p.(Ser158=) NC_000001.11:53210147:T:C Identity +NM_001321268.2:c.132A>C NP_001308197.1:p.Gly44= NC_000017.11:58213772:T:G p.(Gly44=) NC_000017.11:58213772:T:G p.(Gly44=) NC_000017.11:58213772:T:G Identity +NM_001184705.4:c.246T>C NP_001171634.3:p.Phe82= NC_000004.12:108009871:T:C p.(Phe82=) NC_000004.12:108009871:T:C p.(Phe82=) NC_000004.12:108009871:T:C Identity +NM_001346813.1:c.4611C>T NP_001333742.1:p.Asp1537= NC_000006.12:157201084:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000384.3:c.21G>A NP_000375.3:p.Ala7= NC_000002.12:21043924:C:T p.(Ala7=) NC_000002.12:21043924:C:T p.(Ala7=) NC_000002.12:21043924:C:T Identity +NM_024312.5:c.3063A>G NP_077288.2:p.Gln1021= NC_000012.12:101761198:T:C p.(Gln1021=) NC_000012.12:101761198:T:C p.(Gln1021=) NC_000012.12:101761198:T:C Identity +NM_002470.4:c.2592C>T NP_002461.2:p.Leu864= NC_000017.11:10640085:G:A p.(Leu864=) NC_000017.11:10640085:G:A p.(Leu864=) NC_000017.11:10640085:G:A Identity +NM_001321269.2:c.39A>G NP_001308198.1:p.Ala13= NC_000017.11:58219191:T:C p.(Ala13=) NC_000017.11:58219191:T:C p.(Ala13=) NC_000017.11:58219191:T:C Identity +NM_001367624.2:c.7302C>T NP_001354553.1:p.Pro2434= NC_000016.10:88434771:C:T p.(Pro2434=) NC_000016.10:88434771:C:T p.(Pro2434=) NC_000016.10:88434771:C:T Identity +NM_001173990.3:c.76C>T NP_001167461.1:p.Leu26= NC_000011.10:61393271:C:T p.(Leu26=) NC_000011.10:61393271:C:T p.(Leu26=) NC_000011.10:61393271:C:T Identity +NM_001318502.2:c.1767C>G NP_001305431.1:p.Leu589= NC_000009.12:136430308:G:C p.(Leu589=) NC_000009.12:136430308:G:C p.(Leu589=) NC_000009.12:136430308:G:C Identity +NM_001134830.2:c.1317G>A NP_001128302.1:p.Glu439= NC_000006.12:135455760:C:T p.(Glu439=) NC_000006.12:135455760:C:T p.(Glu439=) NC_000006.12:135455760:C:T Identity +NM_001134830.2:c.2718A>C NP_001128302.1:p.Ala906= NC_000006.12:135427212:T:G p.(Ala906=) NC_000006.12:135427212:T:G p.(Ala906=) NC_000006.12:135427212:T:G Identity +NM_001318502.2:c.927G>A NP_001305431.1:p.Gln309= NC_000009.12:136434748:C:T p.(Gln309=) NC_000009.12:136434748:C:T p.(Gln309=) NC_000009.12:136434748:C:T Identity +NM_001134830.2:c.297C>T NP_001128302.1:p.Asn99= NC_000006.12:135466265:G:A p.(Asn99=) NC_000006.12:135466265:G:A p.(Asn99=) NC_000006.12:135466265:G:A Identity +NM_001322902.2:c.333A>G NP_001309831.1:p.Gly111= NC_000020.11:10296975:A:G p.(Gly111=) NC_000020.11:10296975:A:G p.(Gly111=) NC_000020.11:10296975:A:G Identity +NM_000384.3:c.10581G>C NP_000375.3:p.Arg3527= NC_000002.12:21006286:C:G p.(Arg3527=) NC_000002.12:21006286:C:G p.(Arg3527=) NC_000002.12:21006286:C:G Identity +NM_000098.3:c.1662A>G NP_000089.1:p.Arg554= NC_000001.11:53213279:A:G p.(Arg554=) NC_000001.11:53213279:A:G p.(Arg554=) NC_000001.11:53213279:A:G Identity +NM_000098.3:c.519A>G NP_000089.1:p.Pro173= NC_000001.11:53210192:A:G p.(Pro173=) NC_000001.11:53210192:A:G p.(Pro173=) NC_000001.11:53210192:A:G Identity +NM_006218.4:c.1567T>C NP_006209.2:p.Leu523= NC_000003.12:179218236:T:C p.(Leu523=) NC_000003.12:179218236:T:C p.(Leu523=) NC_000003.12:179218236:T:C Identity +NM_001134830.2:c.2865A>G NP_001128302.1:p.Leu955= NC_000006.12:135411443:T:C p.(Leu955=) NC_000006.12:135411443:T:C p.(Leu955=) NC_000006.12:135411443:T:C Identity +NM_001184705.4:c.450C>T NP_001171634.3:p.Ser150= NC_000004.12:108019569:C:T p.(Ser150=) NC_000004.12:108019569:C:T p.(Ser150=) NC_000004.12:108019569:C:T Identity +NM_001134830.2:c.3105G>A NP_001128302.1:p.Gln1035= NC_000006.12:135394779:C:T p.(Gln1035=) NC_000006.12:135394779:C:T p.(Gln1035=) NC_000006.12:135394779:C:T Identity +NM_001164317.2:c.1710C>T NP_001157789.1:p.Phe570= NC_000003.12:58105178:C:T p.(Phe570=) NC_000003.12:58105178:C:T p.(Phe570=) NC_000003.12:58105178:C:T Identity +NM_001322903.2:c.219A>G NP_001309832.1:p.Glu73= NC_000020.11:10293215:A:G p.(Glu73=) NC_000020.11:10293215:A:G p.(Glu73=) NC_000020.11:10293215:A:G Identity +NM_001134831.2:c.663A>G NP_001128303.1:p.Ser221= NC_000006.12:135465899:T:C p.(Ser221=) NC_000006.12:135465899:T:C p.(Ser221=) NC_000006.12:135465899:T:C Identity +NM_000384.3:c.11484A>G NP_000375.3:p.Pro3828= NC_000002.12:21005383:T:C p.(Pro3828=) NC_000002.12:21005383:T:C p.(Pro3828=) NC_000002.12:21005383:T:C Identity +NM_025114.4:c.7374C>T NP_079390.3:p.Ser2458= NC_000012.12:88049249:G:A p.(Ser2458=) NC_000012.12:88049249:G:A p.(Ser2458=) NC_000012.12:88049249:G:A Identity +NM_001143850.3:c.681C>T NP_001137322.1:p.Val227= NC_000012.12:123686954:C:T p.(Val227=) NC_000012.12:123686954:C:T p.(Val227=) NC_000012.12:123686954:C:T Identity +NM_024312.5:c.3288A>G NP_077288.2:p.Pro1096= NC_000012.12:101757618:T:C p.(Pro1096=) NC_000012.12:101757618:T:C p.(Pro1096=) NC_000012.12:101757618:T:C Identity +NM_001321214.2:c.105G>A NP_001308143.1:p.Val35= NC_000017.11:19360346:C:T p.(Val35=) NC_000017.11:19360346:C:T p.(Val35=) NC_000017.11:19360346:C:T Identity +NM_001127897.4:c.651A>C NP_001121369.1:p.Ser217= NC_000016.10:53686557:T:G p.(Ser217=) NC_000016.10:53686557:T:G p.(Ser217=) NC_000016.10:53686557:T:G Identity +NM_000384.3:c.3069G>A NP_000375.3:p.Gln1023= NC_000002.12:21019043:C:T p.(Gln1023=) NC_000002.12:21019043:C:T p.(Gln1023=) NC_000002.12:21019043:C:T Identity +NM_001082537.3:c.993C>G NP_001076006.1:p.Leu331= NC_000012.12:110641037:C:G p.(Leu331=) NC_000012.12:110641037:C:G p.(Leu331=) NC_000012.12:110641037:C:G Identity +NM_001142301.1:c.996G>T NP_001135773.1:p.Val332= NC_000008.11:93785328:G:T p.(Val332=) NC_000008.11:93785328:G:T p.(Val332=) NC_000008.11:93785328:G:T Identity +NM_025114.4:c.4680A>G NP_079390.3:p.Gln1560= NC_000012.12:88084609:T:C p.(Gln1560=) NC_000012.12:88084609:T:C p.(Gln1560=) NC_000012.12:88084609:T:C Identity +NM_000384.3:c.1839G>A NP_000375.3:p.Lys613= NC_000002.12:21028055:C:T p.(Lys613=) NC_000002.12:21028055:C:T p.(Lys613=) NC_000002.12:21028055:C:T Identity +NM_001127897.4:c.1914T>C NP_001121369.1:p.Tyr638= NC_000016.10:53652772:A:G p.(Tyr638=) NC_000016.10:53652772:A:G p.(Tyr638=) NC_000016.10:53652772:A:G Identity +NM_024312.5:c.2697T>C NP_077288.2:p.Tyr899= NC_000012.12:101764219:A:G p.(Tyr899=) NC_000012.12:101764219:A:G p.(Tyr899=) NC_000012.12:101764219:A:G Identity +NM_000384.3:c.5031C>T NP_000375.3:p.Leu1677= NC_000002.12:21011836:G:A p.(Leu1677=) NC_000002.12:21011836:G:A p.(Leu1677=) NC_000002.12:21011836:G:A Identity +NM_001142301.1:c.1179T>C NP_001135773.1:p.Leu393= NC_000008.11:93787852:T:C p.(Leu393=) NC_000008.11:93787852:T:C p.(Leu393=) NC_000008.11:93787852:T:C Identity +NM_025114.4:c.7422T>C NP_079390.3:p.Val2474= NC_000012.12:88049201:A:G p.(Val2474=) NC_000012.12:88049201:A:G p.(Val2474=) NC_000012.12:88049201:A:G Identity +NM_001142301.1:c.2295T>C NP_001135773.1:p.Ile765= NC_000008.11:93808937:T:C p.(Ile765=) NC_000008.11:93808937:T:C p.(Ile765=) NC_000008.11:93808937:T:C Identity +NM_030578.4:c.516C>T NP_085055.2:p.Gly172= NC_000019.10:41354711:G:A p.(Gly172=) NC_000019.10:41354711:G:A p.(Gly172=) NC_000019.10:41354711:G:A Identity +NM_001142301.1:c.2232C>T NP_001135773.1:p.Asn744= NC_000008.11:93808874:C:T p.(Asn744=) NC_000008.11:93808874:C:T p.(Asn744=) NC_000008.11:93808874:C:T Identity +NM_000384.3:c.1591C>T NP_000375.3:p.Leu531= NC_000002.12:21029664:G:A p.(Leu531=) NC_000002.12:21029664:G:A p.(Leu531=) NC_000002.12:21029664:G:A Identity +NM_000384.3:c.3810C>T NP_000375.3:p.Asp1270= NC_000002.12:21014479:G:A p.(Asp1270=) NC_000002.12:21014479:G:A p.(Asp1270=) NC_000002.12:21014479:G:A Identity +NM_025114.4:c.5091A>G NP_079390.3:p.Ser1697= NC_000012.12:88080316:T:C p.(Ser1697=) NC_000012.12:88080316:T:C p.(Ser1697=) NC_000012.12:88080316:T:C Identity +NM_025114.4:c.2784T>G NP_079390.3:p.Val928= NC_000012.12:88106707:A:C p.(Val928=) NC_000012.12:88106707:A:C p.(Val928=) NC_000012.12:88106707:A:C Identity +NM_001127897.4:c.1134del NP_001121369.1:p.Gln377_Trp378insTer NC_000016.10:53664978:CC:C p.(Trp378Ter) NC_000016.10:53664978:CC:C p.(Trp378Ter) NC_000016.10:53664978:C: Analogous +NM_001127897.4:c.1680A>G NP_001121369.1:p.Ala560= NC_000016.10:53656490:T:C p.(Ala560=) NC_000016.10:53656490:T:C p.(Ala560=) NC_000016.10:53656490:T:C Identity +NM_025114.4:c.1068T>A NP_079390.3:p.Gly356= NC_000012.12:88125366:A:T p.(Gly356=) NC_000012.12:88125366:A:T p.(Gly356=) NC_000012.12:88125366:A:T Identity +NM_001127897.4:c.1893T>G NP_001121369.1:p.Thr631= NC_000016.10:53652793:A:C p.(Thr631=) NC_000016.10:53652793:A:C p.(Thr631=) NC_000016.10:53652793:A:C Identity +NM_000384.3:c.1917C>T NP_000375.3:p.Leu639= NC_000002.12:21027977:G:A p.(Leu639=) NC_000002.12:21027977:G:A p.(Leu639=) NC_000002.12:21027977:G:A Identity +NM_007375.4:c.12T>C NP_031401.1:p.Tyr4= NC_000001.11:11013738:T:C p.(Tyr4=) NC_000001.11:11013738:T:C p.(Tyr4=) NC_000001.11:11013738:T:C Identity +NM_025114.4:c.3831T>A NP_079390.3:p.Ala1277= NC_000012.12:88089229:A:T p.(Ala1277=) NC_000012.12:88089229:A:T p.(Ala1277=) NC_000012.12:88089229:A:T Identity +NM_025114.4:c.5802G>A NP_079390.3:p.Gly1934= NC_000012.12:88071833:C:T p.(Gly1934=) NC_000012.12:88071833:C:T p.(Gly1934=) NC_000012.12:88071833:C:T Identity +NM_025114.4:c.603C>T NP_079390.3:p.Asp201= NC_000012.12:88130333:G:A p.(Asp201=) NC_000012.12:88130333:G:A p.(Asp201=) NC_000012.12:88130333:G:A Identity +NM_024312.5:c.1857T>C NP_077288.2:p.Asn619= NC_000012.12:101765059:A:G p.(Asn619=) NC_000012.12:101765059:A:G p.(Asn619=) NC_000012.12:101765059:A:G Identity +NM_025114.4:c.315A>G NP_079390.3:p.Ala105= NC_000012.12:88136768:T:C p.(Ala105=) NC_000012.12:88136768:T:C p.(Ala105=) NC_000012.12:88136768:T:C Identity +NM_025114.4:c.552G>A NP_079390.3:p.Gln184= NC_000012.12:88130384:C:T p.(Gln184=) NC_000012.12:88130384:C:T p.(Gln184=) NC_000012.12:88130384:C:T Identity +NM_000384.3:c.1377G>C NP_000375.3:p.Gly459= NC_000002.12:21029990:C:G p.(Gly459=) NC_000002.12:21029990:C:G p.(Gly459=) NC_000002.12:21029990:C:G Identity +NM_000384.3:c.5794C>T NP_000375.3:p.Leu1932= NC_000002.12:21011073:G:A p.(Leu1932=) NC_000002.12:21011073:G:A p.(Leu1932=) NC_000002.12:21011073:G:A Identity +NM_024312.5:c.1191G>A NP_077288.2:p.Gly397= NC_000012.12:101770113:C:T p.(Gly397=) NC_000012.12:101770113:C:T p.(Gly397=) NC_000012.12:101770113:C:T Identity +NM_001173990.3:c.142C>T NP_001167461.1:p.Leu48= NC_000011.10:61393888:C:T p.(Leu48=) NC_000011.10:61393888:C:T p.(Leu48=) NC_000011.10:61393888:C:T Identity +NM_000098.3:c.1524T>C NP_000089.1:p.Tyr508= NC_000001.11:53211197:T:C p.(Tyr508=) NC_000001.11:53211197:T:C p.(Tyr508=) NC_000001.11:53211197:T:C Identity +NM_001184705.4:c.498C>T NP_001171634.3:p.Phe166= NC_000004.12:108019617:C:T p.(Phe166=) NC_000004.12:108019617:C:T p.(Phe166=) NC_000004.12:108019617:C:T Identity +NM_001318502.2:c.1206G>A NP_001305431.1:p.Lys402= NC_000009.12:136433028:C:T p.(Lys402=) NC_000009.12:136433028:C:T p.(Lys402=) NC_000009.12:136433028:C:T Identity +NM_001134830.2:c.2178A>G NP_001128302.1:p.Lys726= NC_000006.12:135433114:T:C p.(Lys726=) NC_000006.12:135433114:T:C p.(Lys726=) NC_000006.12:135433114:T:C Identity +NM_001184.4:c.1503T>C NP_001175.2:p.Ala501= NC_000003.12:142560300:A:G p.(Ala501=) NC_000003.12:142560300:A:G p.(Ala501=) NC_000003.12:142560300:A:G Identity +NM_000384.3:c.78G>A NP_000375.3:p.Arg26= NC_000002.12:21043867:C:T p.(Arg26=) NC_000002.12:21043867:C:T p.(Arg26=) NC_000002.12:21043867:C:T Identity +NM_000350.3:c.2055del NP_000341.2:p.Thr685_Leu686insTer NC_000001.11:94060641:GG:G p.(Leu686Ter) NC_000001.11:94060641:GG:G p.(Leu686Ter) NC_000001.11:94060641:G: Analogous +NM_001080463.2:c.8122del NP_001073932.1:p.Gln2707_Val2708insTer NC_000011.10:103200077:GG:G p.(Val2708Ter) NC_000011.10:103200077:GG:G p.(Val2708Ter) NC_000011.10:103200078:G: Analogous +NM_001134830.2:c.3394_3400del NP_001128302.1:p.Lys1131_Thr1132insTer NC_000006.12:135318544:TTTTAGTTTTT:TTTT p.(Thr1132Ter) NC_000006.12:135318544:TTTTAGTTTTT:TTTT p.(Thr1132Ter) NC_000006.12:135318544:TTTTAGT: Analogous +NM_001126054.3:c.21G>C NP_001119526.1:p.Leu7= NC_000023.11:41922967:C:G p.(Leu7=) NC_000023.11:41922967:C:G p.(Leu7=) NC_000023.11:41922967:C:G Identity +NM_001184705.4:c.969T>C NP_001171634.3:p.Thr323= NC_000004.12:108034329:T:C p.(Thr323=) NC_000004.12:108034329:T:C p.(Thr323=) NC_000004.12:108034329:T:C Identity +NM_003737.4:c.5109C>G NP_003728.1:p.Leu1703= NC_000011.10:6629503:G:C p.(Leu1703=) NC_000011.10:6629503:G:C p.(Leu1703=) NC_000011.10:6629503:G:C Identity +NM_001134830.2:c.804A>G NP_001128302.1:p.Ser268= NC_000006.12:135463251:T:C p.(Ser268=) NC_000006.12:135463251:T:C p.(Ser268=) NC_000006.12:135463251:T:C Identity +NM_001001890.3:c.630G>A NP_001001890.1:p.Arg210= NC_000021.9:34834503:C:T p.(Arg210=) NC_000021.9:34834503:C:T p.(Arg210=) NC_000021.9:34834503:C:T Identity +NM_000068.4:c.1416G>A NP_000059.3:p.Lys472= NC_000019.10:13317253:C:T p.(Lys472=) NC_000019.10:13317253:C:T p.(Lys472=) NC_000019.10:13317253:C:T Identity +NM_001143850.3:c.258C>T NP_001137322.1:p.Ile86= NC_000012.12:123672122:C:T p.(Ile86=) NC_000012.12:123672122:C:T p.(Ile86=) NC_000012.12:123672122:C:T Identity +NM_024312.5:c.2340A>C NP_077288.2:p.Gly780= NC_000012.12:101764576:T:G p.(Gly780=) NC_000012.12:101764576:T:G p.(Gly780=) NC_000012.12:101764576:T:G Identity +NM_024312.5:c.1551G>A NP_077288.2:p.Lys517= NC_000012.12:101766151:C:T p.(Lys517=) NC_000012.12:101766151:C:T p.(Lys517=) NC_000012.12:101766151:C:T Identity +NM_001321214.2:c.453T>C NP_001308143.1:p.Ala151= NC_000017.11:19343808:A:G p.(Ala151=) NC_000017.11:19343808:A:G p.(Ala151=) NC_000017.11:19343808:A:G Identity +NM_001142301.1:c.2466A>G NP_001135773.1:p.Glu822= NC_000008.11:93809831:A:G p.(Glu822=) NC_000008.11:93809831:A:G p.(Glu822=) NC_000008.11:93809831:A:G Identity +NM_000384.3:c.7461C>A NP_000375.3:p.Thr2487= NC_000002.12:21009406:G:T p.(Thr2487=) NC_000002.12:21009406:G:T p.(Thr2487=) NC_000002.12:21009406:G:T Identity +NM_000384.3:c.10293C>G NP_000375.3:p.Ala3431= NC_000002.12:21006574:G:C p.(Ala3431=) NC_000002.12:21006574:G:C p.(Ala3431=) NC_000002.12:21006574:G:C Identity +NM_001142649.2:c.1164C>T NP_001136121.1:p.Phe388= NC_000011.10:22250997:C:T p.(Phe388=) NC_000011.10:22250997:C:T p.(Phe388=) NC_000011.10:22250997:C:T Identity +NM_000393.5:c.3525A>G NP_000384.2:p.Arg1175= NC_000002.12:189042719:T:C p.(Arg1175=) NC_000002.12:189042719:T:C p.(Arg1175=) NC_000002.12:189042719:T:C Identity +NM_000132.4:c.1167A>G NP_000123.1:p.Gln389= NC_000023.11:154966529:T:C p.(Gln389=) NC_000023.11:154966529:T:C p.(Gln389=) NC_000023.11:154966529:T:C Identity +NM_001282394.3:c.2928T>A NP_001269323.1:p.Pro976= NC_000009.12:93259475:T:A p.(Pro976=) NC_000009.12:93259475:T:A p.(Pro976=) NC_000009.12:93259475:T:A Identity +NM_001033576.2:c.135T>G NP_001028748.1:p.Leu45= NC_000017.11:35148397:T:G p.(Leu45=) NC_000017.11:35148397:T:G p.(Leu45=) NC_000017.11:35148397:T:G Identity +NM_014845.6:c.288G>C NP_055660.1:p.Val96= NC_000006.12:109716566:G:C p.(Val96=) NC_000006.12:109716566:G:C p.(Val96=) NC_000006.12:109716566:G:C Identity +NM_000478.6:c.1356G>A NP_000469.3:p.Glu452= NC_000001.11:21577428:G:A p.(Glu452=) NC_000001.11:21577428:G:A p.(Glu452=) NC_000001.11:21577428:G:A Identity +NM_024318.5:c.585A>G NP_077294.3:p.Thr195= NC_000019.10:54241648:T:C p.(Thr195=) NC_000019.10:54241648:T:C p.(Thr195=) NC_000019.10:54241648:T:C Identity +NM_002471.4:c.3106C>T NP_002462.2:p.Leu1036= NC_000014.9:23393056:G:A p.(Leu1036=) NC_000014.9:23393056:G:A p.(Leu1036=) NC_000014.9:23393056:G:A Identity +NM_001405666.3:c.4875C>G NP_001392595.1:p.Leu1625= NC_000001.11:16564182:G:C ERR:Validation error: Coordinate out of bounds: index 6029 is beyond transcript length 5935 ERR:Validation error: Transcript position out of exon bounds ERR:c.4875 coordinate is out of bounds ERR:c.4875 coordinate is out of bounds Unknown +NM_001242786.2:c.321C>A NP_001229715.1:p.Gly107= NC_000014.9:105241292:G:T p.(Gly107=) NC_000014.9:105241292:G:T p.(Gly107=) NC_000014.9:105241292:G:T Identity +NM_020928.2:c.2823T>C NP_065979.1:p.Phe941= NC_000005.10:61543491:T:C p.(Phe941=) NC_000005.10:61543491:T:C p.(Phe941=) NC_000005.10:61543491:T:C Identity +NM_001306160.3:c.513G>A NP_001293089.1:p.Leu171= NC_000002.12:113641458:G:A p.(Leu171=) NC_000002.12:113641458:G:A p.(Leu171=) NC_000002.12:113641458:G:A Identity +NM_014712.3:c.1986C>T NP_055527.1:p.Ser662= NC_000016.10:30965866:C:T p.(Ser662=) NC_000016.10:30965866:C:T p.(Ser662=) NC_000016.10:30965866:C:T Identity +NM_001845.6:c.3426C>T NP_001836.3:p.Gly1142= NC_000013.11:110173978:G:A p.(Gly1142=) NC_000013.11:110173978:G:A p.(Gly1142=) NC_000013.11:110173978:G:A Identity +NM_000939.4:c.585C>T NP_000930.1:p.Ala195= NC_000002.12:25161299:G:A p.(Ala195=) NC_000002.12:25161299:G:A p.(Ala195=) NC_000002.12:25161299:G:A Identity +NM_001190458.2:c.2223C>T NP_001177387.1:p.Ile741= NC_000009.12:377197:C:T p.(Ile741=) NC_000009.12:377197:C:T p.(Ile741=) NC_000009.12:377197:C:T Identity +NM_001347721.2:c.975G>A NP_001334650.1:p.Leu325= NC_000021.9:37493066:G:A p.(Leu325=) NC_000021.9:37493066:G:A p.(Leu325=) NC_000021.9:37493066:G:A Identity +NM_001190458.2:c.4758C>T NP_001177387.1:p.Pro1586= NC_000009.12:434953:C:T p.(Pro1586=) NC_000009.12:434953:C:T p.(Pro1586=) NC_000009.12:434953:C:T Identity +NM_001363907.1:c.156C>T NP_001350836.1:p.His52= NC_000016.10:85903140:C:T p.(His52=) NC_000016.10:85903140:C:T p.(His52=) NC_000016.10:85903140:C:T Identity +NM_001001329.3:c.60C>T NP_001001329.1:p.Pro20= NC_000019.10:11436176:C:T p.(Pro20=) NC_000019.10:11436176:C:T p.(Pro20=) NC_000019.10:11436176:C:T Identity +NM_001098398.2:c.3423G>T NP_001091868.1:p.Gly1141= NC_000001.11:160291358:C:A p.(Gly1141=) NC_000001.11:160291358:C:A p.(Gly1141=) NC_000001.11:160291358:C:A Identity +NM_203447.4:c.189C>T NP_982272.2:p.Asp63= NC_000009.12:286492:C:T p.(Asp63=) NC_000009.12:286492:C:T p.(Asp63=) NC_000009.12:286492:C:T Identity +NM_001190458.2:c.4893C>A NP_001177387.1:p.Leu1631= NC_000009.12:439357:C:A p.(Leu1631=) NC_000009.12:439357:C:A p.(Leu1631=) NC_000009.12:439357:C:A Identity +NM_001190458.2:c.4563G>A NP_001177387.1:p.Glu1521= NC_000009.12:433951:G:A p.(Glu1521=) NC_000009.12:433951:G:A p.(Glu1521=) NC_000009.12:433951:G:A Identity +NM_001098398.2:c.1836G>T NP_001091868.1:p.Leu612= NC_000001.11:160299122:C:A p.(Leu612=) NC_000001.11:160299122:C:A p.(Leu612=) NC_000001.11:160299122:C:A Identity +NM_001098398.2:c.396A>G NP_001091868.1:p.Thr132= NC_000001.11:160332547:T:C p.(Thr132=) NC_000001.11:160332547:T:C p.(Thr132=) NC_000001.11:160332547:T:C Identity +NM_001190458.2:c.831G>C NP_001177387.1:p.Leu277= NC_000009.12:328161:G:C p.(Leu277=) NC_000009.12:328161:G:C p.(Leu277=) NC_000009.12:328161:G:C Identity +NM_001098398.2:c.432C>T NP_001091868.1:p.His144= NC_000001.11:160332511:G:A p.(His144=) NC_000001.11:160332511:G:A p.(His144=) NC_000001.11:160332511:G:A Identity +NM_001363907.1:c.603G>A NP_001350836.1:p.Gly201= NC_000016.10:85914491:G:A p.(Gly201=) NC_000016.10:85914491:G:A p.(Gly201=) NC_000016.10:85914491:G:A Identity +NM_139058.3:c.1299_1310del NP_620689.1:p.Ala437_Ala440del NC_000023.11:25007248:GCGGCGGCGGCAGCGGC:GCGGC p.(Ala437_Ala440del) NC_000023.11:25007248:GCGGCGGCGGCAGCGGC:GCGGC p.(Ala437_Ala440del) NC_000023.11:25007248:GCGGCGGCGGCA: Identity +NM_001363907.1:c.1296A>G NP_001350836.1:p.Gln432= NC_000016.10:85921266:A:G p.(Gln432=) NC_000016.10:85921266:A:G p.(Gln432=) NC_000016.10:85921266:A:G Identity +NM_001347721.2:c.771G>T NP_001334650.1:p.Ala257= NC_000021.9:37490307:G:T p.(Ala257=) NC_000021.9:37490307:G:T p.(Ala257=) NC_000021.9:37490307:G:T Identity +NM_001190458.2:c.2865C>T NP_001177387.1:p.Phe955= NC_000009.12:399189:C:T p.(Phe955=) NC_000009.12:399189:C:T p.(Phe955=) NC_000009.12:399189:C:T Identity +NM_001015880.2:c.1797C>T NP_001015880.1:p.Gly599= NC_000010.11:87745906:C:T p.(Gly599=) NC_000010.11:87745906:C:T p.(Gly599=) NC_000010.11:87745906:C:T Identity +NM_001098398.2:c.612C>T NP_001091868.1:p.His204= NC_000001.11:160323524:G:A p.(His204=) NC_000001.11:160323524:G:A p.(His204=) NC_000001.11:160323524:G:A Identity +NM_001190458.2:c.1044C>T NP_001177387.1:p.Thr348= NC_000009.12:334346:C:T p.(Thr348=) NC_000009.12:334346:C:T p.(Thr348=) NC_000009.12:334346:C:T Identity +NM_001001329.3:c.1446C>T NP_001001329.1:p.Cys482= NC_000019.10:11449279:C:T p.(Cys482=) NC_000019.10:11449279:C:T p.(Cys482=) NC_000019.10:11449279:C:T Identity +NM_001001329.3:c.1332C>T NP_001001329.1:p.Gly444= NC_000019.10:11449075:C:T p.(Gly444=) NC_000019.10:11449075:C:T p.(Gly444=) NC_000019.10:11449075:C:T Identity +NM_007255.3:c.135C>T NP_009186.1:p.Ser45= NC_000005.10:177604262:C:T p.(Ser45=) NC_000005.10:177604262:C:T p.(Ser45=) NC_000005.10:177604262:C:T Identity +NM_002087.4:c.324C>T NP_002078.1:p.Asp108= NC_000017.11:44349725:C:T p.(Asp108=) NC_000017.11:44349725:C:T p.(Asp108=) NC_000017.11:44349725:C:T Identity +NM_002087.4:c.1686C>T NP_002078.1:p.Gly562= NC_000017.11:44352701:C:T p.(Gly562=) NC_000017.11:44352701:C:T p.(Gly562=) NC_000017.11:44352701:C:T Identity +NM_002087.4:c.168T>C NP_002078.1:p.His56= NC_000017.11:44349454:T:C p.(His56=) NC_000017.11:44349454:T:C p.(His56=) NC_000017.11:44349454:T:C Identity +NM_002087.4:c.582G>A NP_002078.1:p.Gln194= NC_000017.11:44350560:G:A p.(Gln194=) NC_000017.11:44350560:G:A p.(Gln194=) NC_000017.11:44350560:G:A Identity +NM_002087.4:c.1560G>A NP_002078.1:p.Glu520= NC_000017.11:44352486:G:A p.(Glu520=) NC_000017.11:44352486:G:A p.(Glu520=) NC_000017.11:44352486:G:A Identity +NM_001190458.2:c.4866C>T NP_001177387.1:p.Tyr1622= NC_000009.12:439330:C:T p.(Tyr1622=) NC_000009.12:439330:C:T p.(Tyr1622=) NC_000009.12:439330:C:T Identity +NM_001098398.2:c.1134G>A NP_001091868.1:p.Leu378= NC_000001.11:160310200:C:T p.(Leu378=) NC_000001.11:160310200:C:T p.(Leu378=) NC_000001.11:160310200:C:T Identity +NM_001190458.2:c.3579T>G NP_001177387.1:p.Thr1193= NC_000009.12:420438:T:G p.(Thr1193=) NC_000009.12:420438:T:G p.(Thr1193=) NC_000009.12:420438:T:G Identity +NM_001190458.2:c.3180C>A NP_001177387.1:p.Thr1060= NC_000009.12:407018:C:A p.(Thr1060=) NC_000009.12:407018:C:A p.(Thr1060=) NC_000009.12:407018:C:A Identity +NM_001015880.2:c.1563A>C NP_001015880.1:p.Gly521= NC_000010.11:87745072:A:C p.(Gly521=) NC_000010.11:87745072:A:C p.(Gly521=) NC_000010.11:87745072:A:C Identity +NM_001363907.1:c.528G>A NP_001350836.1:p.Pro176= NC_000016.10:85913180:G:A p.(Pro176=) NC_000016.10:85913180:G:A p.(Pro176=) NC_000016.10:85913180:G:A Identity +NM_001363907.1:c.936C>T NP_001350836.1:p.Asn312= NC_000016.10:85918720:C:T p.(Asn312=) NC_000016.10:85918720:C:T p.(Asn312=) NC_000016.10:85918720:C:T Identity +NM_001015880.2:c.1452C>T NP_001015880.1:p.Ala484= NC_000010.11:87743601:C:T p.(Ala484=) NC_000010.11:87743601:C:T p.(Ala484=) NC_000010.11:87743601:C:T Identity +NM_001190458.2:c.807C>T NP_001177387.1:p.Thr269= NC_000009.12:328137:C:T p.(Thr269=) NC_000009.12:328137:C:T p.(Thr269=) NC_000009.12:328137:C:T Identity +NM_001098398.2:c.2100A>G NP_001091868.1:p.Glu700= NC_000001.11:160297649:T:C p.(Glu700=) NC_000001.11:160297649:T:C p.(Glu700=) NC_000001.11:160297649:T:C Identity +NM_001190458.2:c.5410C>A NP_001177387.1:p.Arg1804= NC_000009.12:446498:C:A p.(Arg1804=) NC_000009.12:446498:C:A p.(Arg1804=) NC_000009.12:446498:C:A Identity +NM_203447.4:c.48C>T NP_982272.2:p.Ile16= NC_000009.12:215023:C:T p.(Ile16=) NC_000009.12:215023:C:T p.(Ile16=) NC_000009.12:215023:C:T Identity +NM_001190458.2:c.4983G>A NP_001177387.1:p.Ala1661= NC_000009.12:441344:G:A p.(Ala1661=) NC_000009.12:441344:G:A p.(Ala1661=) NC_000009.12:441344:G:A Identity +NM_001190458.2:c.5883C>T NP_001177387.1:p.Ile1961= NC_000009.12:463630:C:T p.(Ile1961=) NC_000009.12:463630:C:T p.(Ile1961=) NC_000009.12:463630:C:T Identity +NM_001363907.1:c.633A>G NP_001350836.1:p.Ala211= NC_000016.10:85918417:A:G p.(Ala211=) NC_000016.10:85918417:A:G p.(Ala211=) NC_000016.10:85918417:A:G Identity +NM_007255.3:c.648G>A NP_009186.1:p.Gly216= NC_000005.10:177608546:G:A p.(Gly216=) NC_000005.10:177608546:G:A p.(Gly216=) NC_000005.10:177608546:G:A Identity +NM_000070.3:c.883_886dup NP_000061.1:p.Asn296delinsArgTer NC_000015.10:42390033:GATA:GATAGATA p.(Asn296ArgfsTer2) NC_000015.10:42390033:GATA:GATAGATA p.(Asn296ArgfsTer2) ERR:SPDI Analogous +NM_007214.5:c.219A>G NP_009145.1:p.Thr73= NC_000006.12:107929419:T:C p.(Thr73=) NC_000006.12:107929419:T:C p.(Thr73=) NC_000006.12:107929419:T:C Identity +NM_001098398.2:c.2217T>C NP_001091868.1:p.Ser739= NC_000001.11:160297415:A:G p.(Ser739=) NC_000001.11:160297415:A:G p.(Ser739=) NC_000001.11:160297415:A:G Identity +NM_203447.4:c.15G>C NP_982272.2:p.Pro5= NC_000009.12:214990:G:C p.(Pro5=) NC_000009.12:214990:G:C p.(Pro5=) NC_000009.12:214990:G:C Identity +NM_001190458.2:c.2697T>C NP_001177387.1:p.His899= NC_000009.12:396810:T:C p.(His899=) NC_000009.12:396810:T:C p.(His899=) NC_000009.12:396810:T:C Identity +NM_001190458.2:c.5010C>T NP_001177387.1:p.Leu1670= NC_000009.12:441371:C:T p.(Leu1670=) NC_000009.12:441371:C:T p.(Leu1670=) NC_000009.12:441371:C:T Identity +NM_001363907.1:c.630A>G NP_001350836.1:p.Ser210= NC_000016.10:85914518:A:G p.(Ser210=) NC_000016.10:85914518:A:G p.(Ser210=) NC_000016.10:85914518:A:G Identity +NM_000388.4:c.1686C>T NP_000379.3:p.Cys562= NC_000003.12:122282189:C:T p.(Cys562=) NC_000003.12:122282189:C:T p.(Cys562=) NC_000003.12:122282189:C:T Identity +NM_000518.5:c.246C>G NP_000509.1:p.Leu82= NC_000011.10:5226645:G:C p.(Leu82=) NC_000011.10:5226645:G:C p.(Leu82=) NC_000011.10:5226645:G:C Identity +NM_000244.4:c.249G>A NP_000235.3:p.Leu83= NC_000011.10:64809860:C:T p.(Leu83=) NC_000011.10:64809860:C:T p.(Leu83=) NC_000011.10:64809860:C:T Identity +NM_000448.3:c.189A>G NP_000439.2:p.Pro63= NC_000011.10:36573492:A:G p.(Pro63=) NC_000011.10:36573492:A:G p.(Pro63=) NC_000011.10:36573492:A:G Identity +NM_000214.3:c.588C>T NP_000205.1:p.Cys196= NC_000020.11:10658573:G:A p.(Cys196=) NC_000020.11:10658573:G:A p.(Cys196=) NC_000020.11:10658573:G:A Identity +NM_000112.4:c.906_907del NP_000103.2:p.Leu302_Cys303insTer NC_000005.10:149980495:TCTCT:TCT p.(Cys303Ter) NC_000005.10:149980495:TCTCT:TCT p.(Cys303Ter) NC_000005.10:149980498:CT: Analogous +NM_001096.3:c.2895G>A NP_001087.2:p.Lys965= NC_000017.11:41871730:C:T p.(Lys965=) NC_000017.11:41871730:C:T p.(Lys965=) NC_000017.11:41871730:C:T Identity +NM_001130012.3:c.252G>A NP_001123484.1:p.Arg84= NC_000016.10:2029619:G:A p.(Arg84=) NC_000016.10:2029619:G:A p.(Arg84=) NC_000016.10:2029619:G:A Identity +NM_001199692.3:c.3474C>T NP_001186621.1:p.Val1158= NC_000007.14:151076014:C:T p.(Val1158=) NC_000007.14:151076014:C:T p.(Val1158=) NC_000007.14:151076014:C:T Identity +NM_004252.5:c.33G>T NP_004243.1:p.Leu11= NC_000017.11:74748878:G:T p.(Leu11=) NC_000017.11:74748878:G:T p.(Leu11=) NC_000017.11:74748878:G:T Identity +NM_005120.3:c.107_111delinsGC NP_005111.2:p.Leu36_Thr37delinsArg NC_000023.11:71119379:TGACG:GC p.(Leu36_Thr37delinsArg) NC_000023.11:71119379:TGACG:GC p.(Leu36_Thr37delinsArg) NC_000023.11:71119379:TGACG:GC Identity +NM_001321057.1:c.1530G>A NP_001307986.1:p.Val510= NC_000019.10:55912286:C:T p.(Val510=) NC_000019.10:55912286:C:T p.(Val510=) NC_000019.10:55912286:C:T Identity +NM_002769.5:c.360C>T NP_002760.1:p.Asn120= NC_000007.14:142751932:C:T p.(Asn120=) NC_000007.14:142751932:C:T p.(Asn120=) NC_000007.14:142751932:C:T Identity +NM_001378454.1:c.36_74= NP_001365383.1:p.Leu12_Glu25= NC_000002.12:73385903:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA p.(Leu12_Glu25=) NC_000002.12:73385903:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA: p.(Leu12=) NC_000002.12:73385903:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA Identity +NM_001302959.2:c.707_718del NP_001289888.1:p.Asp236_Leu239del NC_000011.10:67490879:CTGGACCCAGCCCTGG:CTGG p.(Asp236_Leu239del) NC_000011.10:67490879:CTGGACCCAGCCCTGG:CTGG p.(Asp236_Leu239del) NC_000011.10:67490883:ACCCAGCCCTGG: Identity +NM_000235.4:c.372C>T NP_000226.2:p.Thr124= NC_000010.11:89228255:G:A p.(Thr124=) NC_000010.11:89228255:G:A p.(Thr124=) NC_000010.11:89228255:G:A Identity +NM_000235.4:c.618C>A NP_000226.2:p.Val206= NC_000010.11:89225148:G:T p.(Val206=) NC_000010.11:89225148:G:T p.(Val206=) NC_000010.11:89225148:G:T Identity +NM_000235.4:c.310C>T NP_000226.2:p.Leu104= NC_000010.11:89228317:G:A p.(Leu104=) NC_000010.11:89228317:G:A p.(Leu104=) NC_000010.11:89228317:G:A Identity +NM_000235.4:c.1008G>A NP_000226.2:p.Pro336= NC_000010.11:89215019:C:T p.(Pro336=) NC_000010.11:89215019:C:T p.(Pro336=) NC_000010.11:89215019:C:T Identity +NM_000235.4:c.237A>G NP_000226.2:p.Lys79= NC_000010.11:89228390:T:C p.(Lys79=) NC_000010.11:89228390:T:C p.(Lys79=) NC_000010.11:89228390:T:C Identity +NM_000235.4:c.729G>T NP_000226.2:p.Leu243= NC_000010.11:89223776:C:A p.(Leu243=) NC_000010.11:89223776:C:A p.(Leu243=) NC_000010.11:89223776:C:A Identity +NM_001288979.2:c.42G>A NP_001275908.1:p.Lys14= NC_000010.11:89228237:C:T p.(Lys14=) NC_000010.11:89228237:C:T p.(Lys14=) NC_000010.11:89228237:C:T Identity +NM_000235.4:c.471C>T NP_000226.2:p.Asn157= NC_000010.11:89226961:G:A p.(Asn157=) NC_000010.11:89226961:G:A p.(Asn157=) NC_000010.11:89226961:G:A Identity +NM_000235.4:c.293_295del NP_000226.2:p.Asn98_Leu99delinsIle NC_000010.11:89228332:GGT: p.(Asn98_Leu99delinsIle) NC_000010.11:89228332:GGT: p.(Asn98_Leu99delinsIle) NC_000010.11:89228332:GGT: Identity +NM_015574.2:c.285_296del NP_056389.1:p.Ser95_Gly99delinsArg NC_000004.12:73258372:CCACCGCCGCCGC:C p.(Ser95_Gly99delinsArg) NC_000004.12:73258372:CCACCGCCGCCGC:C p.(Ser95_Gly99delinsArg) NC_000004.12:73258372:CCACCGCCGCCG: Identity +NM_001363813.1:c.414C>T NP_001350742.1:p.Tyr138= NC_000017.11:65558206:G:A p.(Tyr138=) NC_000017.11:65558206:G:A p.(Tyr138=) NC_000017.11:65558206:G:A Identity +LRG_1137t1:c.63T>G LRG_1137p1:p.Ala21= NC_000016.10:88784901:A:C ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found +NM_005859.5:c.126_146dup NP_005850.1:p.Ser43_Gly49dup NC_000005.10:140114295:GGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGG:GGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGG p.(Ser43_Gly49dup) NC_000005.10:140114295:GGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGG:GGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGG p.(Ser43_Gly49dup) ERR:SPDI Identity +NM_001142864.4:c.4992G>A NP_001136336.2:p.Leu1664= NC_000016.10:88722029:C:T p.(Leu1664=) NC_000016.10:88722029:C:T p.(Leu1664=) NC_000016.10:88722029:C:T Identity +NM_001190458.2:c.4905C>T NP_001177387.1:p.Ala1635= NC_000009.12:439369:C:T p.(Ala1635=) NC_000009.12:439369:C:T p.(Ala1635=) NC_000009.12:439369:C:T Identity +NM_001282948.2:c.3225A>C NP_001269877.1:p.Pro1075= NC_000010.11:63207897:T:G p.(Pro1075=) NC_000010.11:63207897:T:G p.(Pro1075=) NC_000010.11:63207897:T:G Identity +NM_001282948.2:c.1260T>A NP_001269877.1:p.Pro420= NC_000010.11:63214360:A:T p.(Pro420=) NC_000010.11:63214360:A:T p.(Pro420=) NC_000010.11:63214360:A:T Identity +NM_005859.5:c.534T>G NP_005850.1:p.Pro178= NC_000005.10:140114714:T:G p.(Pro178=) NC_000005.10:140114714:T:G p.(Pro178=) NC_000005.10:140114714:T:G Identity +NM_001171931.2:c.3117G>A NP_001165402.1:p.Pro1039= NC_000010.11:71707059:G:A p.(Pro1039=) NC_000010.11:71707059:G:A p.(Pro1039=) NC_000010.11:71707059:G:A Identity +NM_001353229.2:c.852C>T NP_001340158.1:p.Gly284= NC_000017.11:17221609:G:A p.(Gly284=) NC_000017.11:17221609:G:A p.(Gly284=) NC_000017.11:17221609:G:A Identity +NM_001282948.2:c.4722C>T NP_001269877.1:p.Tyr1574= NC_000010.11:63200483:G:A p.(Tyr1574=) NC_000010.11:63200483:G:A p.(Tyr1574=) NC_000010.11:63200483:G:A Identity +NM_001282948.2:c.3099C>T NP_001269877.1:p.His1033= NC_000010.11:63208023:G:A p.(His1033=) NC_000010.11:63208023:G:A p.(His1033=) NC_000010.11:63208023:G:A Identity +NM_001282948.2:c.2016T>C NP_001269877.1:p.Tyr672= NC_000010.11:63213604:A:G p.(Tyr672=) NC_000010.11:63213604:A:G p.(Tyr672=) NC_000010.11:63213604:A:G Identity +NM_001282948.2:c.6894T>C NP_001269877.1:p.Asp2298= NC_000010.11:63168527:A:G p.(Asp2298=) NC_000010.11:63168527:A:G p.(Asp2298=) NC_000010.11:63168527:A:G Identity +NM_012281.3:c.750A>G NP_036413.1:p.Ala250= NC_000007.14:120275381:A:G p.(Ala250=) NC_000007.14:120275381:A:G p.(Ala250=) NC_000007.14:120275381:A:G Identity +NM_001171930.2:c.2100C>T NP_001165401.1:p.Arg700= NC_000010.11:71690507:C:T p.(Arg700=) NC_000010.11:71690507:C:T p.(Arg700=) NC_000010.11:71690507:C:T Identity +NM_005859.5:c.498C>G NP_005850.1:p.Arg166= NC_000005.10:140114678:C:G p.(Arg166=) NC_000005.10:140114678:C:G p.(Arg166=) NC_000005.10:140114678:C:G Identity +NM_001282948.2:c.6405C>T NP_001269877.1:p.Cys2135= NC_000010.11:63184617:G:A p.(Cys2135=) NC_000010.11:63184617:G:A p.(Cys2135=) NC_000010.11:63184617:G:A Identity +NM_001282948.2:c.3339C>T NP_001269877.1:p.Ser1113= NC_000010.11:63207783:G:A p.(Ser1113=) NC_000010.11:63207783:G:A p.(Ser1113=) NC_000010.11:63207783:G:A Identity +NM_012281.3:c.366T>C NP_036413.1:p.Phe122= NC_000007.14:120274997:T:C p.(Phe122=) NC_000007.14:120274997:T:C p.(Phe122=) NC_000007.14:120274997:T:C Identity +NM_001282948.2:c.1539A>G NP_001269877.1:p.Thr513= NC_000010.11:63214081:T:C p.(Thr513=) NC_000010.11:63214081:T:C p.(Thr513=) NC_000010.11:63214081:T:C Identity +NM_005859.5:c.897A>G NP_005850.1:p.Gln299= NC_000005.10:140115077:A:G p.(Gln299=) NC_000005.10:140115077:A:G p.(Gln299=) NC_000005.10:140115077:A:G Identity +NM_005859.5:c.502C>T NP_005850.1:p.Leu168= NC_000005.10:140114682:C:T p.(Leu168=) NC_000005.10:140114682:C:T p.(Leu168=) NC_000005.10:140114682:C:T Identity +NM_012281.3:c.234A>C NP_036413.1:p.Pro78= NC_000007.14:120274865:A:C p.(Pro78=) NC_000007.14:120274865:A:C p.(Pro78=) NC_000007.14:120274865:A:C Identity +NM_001282948.2:c.1936C>T NP_001269877.1:p.Leu646= NC_000010.11:63213684:G:A p.(Leu646=) NC_000010.11:63213684:G:A p.(Leu646=) NC_000010.11:63213684:G:A Identity +NM_001282948.2:c.2760C>T NP_001269877.1:p.Val920= NC_000010.11:63208362:G:A p.(Val920=) NC_000010.11:63208362:G:A p.(Val920=) NC_000010.11:63208362:G:A Identity +NM_012281.3:c.174C>T NP_036413.1:p.Thr58= NC_000007.14:120274805:C:T p.(Thr58=) NC_000007.14:120274805:C:T p.(Thr58=) NC_000007.14:120274805:C:T Identity +NM_178013.4:c.189G>T NP_821092.1:p.Pro63= NC_000014.9:93779215:C:A p.(Pro63=) NC_000014.9:93779215:C:A p.(Pro63=) NC_000014.9:93779215:C:A Identity +NM_005859.5:c.513C>T NP_005850.1:p.Arg171= NC_000005.10:140114693:C:T p.(Arg171=) NC_000005.10:140114693:C:T p.(Arg171=) NC_000005.10:140114693:C:T Identity +NM_001282948.2:c.3642G>A NP_001269877.1:p.Thr1214= NC_000010.11:63207480:C:T p.(Thr1214=) NC_000010.11:63207480:C:T p.(Thr1214=) NC_000010.11:63207480:C:T Identity +NM_012281.3:c.174C>G NP_036413.1:p.Thr58= NC_000007.14:120274805:C:G p.(Thr58=) NC_000007.14:120274805:C:G p.(Thr58=) NC_000007.14:120274805:C:G Identity +NM_005859.5:c.66G>C NP_005850.1:p.Gly22= NC_000005.10:140114246:G:C p.(Gly22=) NC_000005.10:140114246:G:C p.(Gly22=) NC_000005.10:140114246:G:C Identity +NM_001282948.2:c.4737A>G NP_001269877.1:p.Ser1579= NC_000010.11:63198720:T:C p.(Ser1579=) NC_000010.11:63198720:T:C p.(Ser1579=) NC_000010.11:63198720:T:C Identity +NM_178013.4:c.177G>A NP_821092.1:p.Pro59= NC_000014.9:93779227:C:T p.(Pro59=) NC_000014.9:93779227:C:T p.(Pro59=) NC_000014.9:93779227:C:T Identity +NM_178013.4:c.18G>A NP_821092.1:p.Leu6= NC_000014.9:93787700:C:T p.(Leu6=) NC_000014.9:93787700:C:T p.(Leu6=) NC_000014.9:93787700:C:T Identity +NM_001282948.2:c.228T>A NP_001269877.1:p.Ile76= NC_000010.11:63215600:A:T p.(Ile76=) NC_000010.11:63215600:A:T p.(Ile76=) NC_000010.11:63215600:A:T Identity +NM_021072.4:c.1950_1958del NP_066550.2:p.Ser651_Thr653del NC_000005.10:45262635:GTAGACGATGT:GT p.(Ser651_Thr653del) NC_000005.10:45262635:GTAGACGATGT:GT p.(Ser651_Thr653del) NC_000005.10:45262635:GTAGACGAT: Identity +NM_001080114.2:c.1521T>C NP_001073583.1:p.Ile507= NC_000010.11:86718137:T:C p.(Ile507=) NC_000010.11:86718137:T:C p.(Ile507=) NC_000010.11:86718137:T:C Identity +NM_000130.5:c.4095C>T NP_000121.2:p.Thr1365= NC_000001.11:169540994:G:A p.(Thr1365=) NC_000001.11:169540994:G:A p.(Thr1365=) NC_000001.11:169540994:G:A Identity +NM_000138.5:c.1908A>G NP_000129.3:p.Arg636= NC_000015.10:48505076:T:C p.(Arg636=) NC_000015.10:48505076:T:C p.(Arg636=) NC_000015.10:48505076:T:C Identity +NM_000056.5:c.51A>C NP_000047.1:p.Ala17= NC_000006.12:80106743:A:C p.(Ala17=) NC_000006.12:80106743:A:C p.(Ala17=) NC_000006.12:80106743:A:C Identity +NM_000130.5:c.3504A>C NP_000121.2:p.Thr1168= NC_000001.11:169541585:T:G p.(Thr1168=) NC_000001.11:169541585:T:G p.(Thr1168=) NC_000001.11:169541585:T:G Identity +NM_000138.5:c.3570C>T NP_000129.3:p.Pro1190= NC_000015.10:48487093:G:A p.(Pro1190=) NC_000015.10:48487093:G:A p.(Pro1190=) NC_000015.10:48487093:G:A Identity +NM_001257180.2:c.138G>A NP_001244109.1:p.Gln46= NC_000008.11:42472252:C:T p.(Gln46=) NC_000008.11:42472252:C:T p.(Gln46=) NC_000008.11:42472252:C:T Identity +NM_000138.5:c.3903C>T NP_000129.3:p.Gly1301= NC_000015.10:48481715:G:A p.(Gly1301=) NC_000015.10:48481715:G:A p.(Gly1301=) NC_000015.10:48481715:G:A Identity +NM_000138.5:c.2349T>C NP_000129.3:p.Asn783= NC_000015.10:48496169:A:G p.(Asn783=) NC_000015.10:48496169:A:G p.(Asn783=) NC_000015.10:48496169:A:G Identity +NM_000709.4:c.213C>T NP_000700.1:p.Asn71= NC_000019.10:41410740:C:T p.(Asn71=) NC_000019.10:41410740:C:T p.(Asn71=) NC_000019.10:41410740:C:T Identity +NM_000138.5:c.2376C>T NP_000129.3:p.Cys792= NC_000015.10:48496142:G:A p.(Cys792=) NC_000015.10:48496142:G:A p.(Cys792=) NC_000015.10:48496142:G:A Identity +NM_000719.7:c.4389T>C NP_000710.5:p.Cys1463= NC_000012.12:2664980:T:C p.(Cys1463=) NC_000012.12:2664980:T:C p.(Cys1463=) NC_000012.12:2664980:T:C Identity +NM_000088.4:c.3423A>C NP_000079.2:p.Arg1141= NC_000017.11:50187483:T:G p.(Arg1141=) NC_000017.11:50187483:T:G p.(Arg1141=) NC_000017.11:50187483:T:G Identity +NM_000138.5:c.4359G>A NP_000129.3:p.Pro1453= NC_000015.10:48470733:C:T p.(Pro1453=) NC_000015.10:48470733:C:T p.(Pro1453=) NC_000015.10:48470733:C:T Identity +NM_000138.5:c.6609_6610del NP_000129.3:p.Thr2203_Cys2204insTer NC_000015.10:48434599:AT: p.(Cys2204Ter) NC_000015.10:48434599:AT: p.(Cys2204Ter) NC_000015.10:48434599:AT: Analogous +NM_000138.5:c.2808_2810del NP_000129.3:p.Gln936_Cys937delinsHis NC_000015.10:48492504:CAC: p.(Gln936_Cys937delinsHis) NC_000015.10:48492504:CAC: p.(Gln936_Cys937delinsHis) NC_000015.10:48492504:CAC: Identity +LRG_778t1:c.5470_5471delinsAT LRG_778p1:p.Cys1824Ile NC_000015.10:48452635:CA:AT ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_000138.5:c.4488G>A NP_000129.3:p.Thr1496= NC_000015.10:48468505:C:T p.(Thr1496=) NC_000015.10:48468505:C:T p.(Thr1496=) NC_000015.10:48468505:C:T Identity +NM_000138.5:c.3969C>T NP_000129.3:p.Ile1323= NC_000015.10:48474645:G:A p.(Ile1323=) NC_000015.10:48474645:G:A p.(Ile1323=) NC_000015.10:48474645:G:A Identity +NM_000138.5:c.3969C>A NP_000129.3:p.Ile1323= NC_000015.10:48474645:G:T p.(Ile1323=) NC_000015.10:48474645:G:T p.(Ile1323=) NC_000015.10:48474645:G:T Identity +NM_000130.5:c.5001G>A NP_000121.2:p.Pro1667= NC_000001.11:169530992:C:T p.(Pro1667=) NC_000001.11:169530992:C:T p.(Pro1667=) NC_000001.11:169530992:C:T Identity +NM_000138.5:c.6315G>A NP_000129.3:p.Glu2105= NC_000015.10:48437385:C:T p.(Glu2105=) NC_000015.10:48437385:C:T p.(Glu2105=) NC_000015.10:48437385:C:T Identity +NM_007248.5:c.444G>A NP_009179.2:p.Ala148= NC_000003.12:48467128:G:A p.(Ala148=) NC_000003.12:48467128:G:A p.(Ala148=) NC_000003.12:48467128:G:A Identity +NM_001918.5:c.1275A>G NP_001909.4:p.Ser425= NC_000001.11:100206235:T:C p.(Ser425=) NC_000001.11:100206235:T:C p.(Ser425=) NC_000001.11:100206235:T:C Identity +NM_000709.4:c.615C>T NP_000700.1:p.Ile205= NC_000019.10:41419264:C:T p.(Ile205=) NC_000019.10:41419264:C:T p.(Ile205=) NC_000019.10:41419264:C:T Identity +NM_000138.5:c.5850A>G NP_000129.3:p.Thr1950= NC_000015.10:48445442:T:C p.(Thr1950=) NC_000015.10:48445442:T:C p.(Thr1950=) NC_000015.10:48445442:T:C Identity +NM_000138.5:c.6336T>C NP_000129.3:p.Pro2112= NC_000015.10:48437364:A:G p.(Pro2112=) NC_000015.10:48437364:A:G p.(Pro2112=) NC_000015.10:48437364:A:G Identity +NM_000138.5:c.7788C>T NP_000129.3:p.Tyr2596= NC_000015.10:48420717:G:A p.(Tyr2596=) NC_000015.10:48420717:G:A p.(Tyr2596=) NC_000015.10:48420717:G:A Identity +NM_000138.5:c.2232G>T NP_000129.3:p.Gly744= NC_000015.10:48497326:C:A p.(Gly744=) NC_000015.10:48497326:C:A p.(Gly744=) NC_000015.10:48497326:C:A Identity +NM_001271999.2:c.5565A>G NP_001258928.1:p.Ala1855= NC_000001.11:62477735:T:C p.(Ala1855=) NC_000001.11:62477735:T:C p.(Ala1855=) NC_000001.11:62477735:T:C Identity +NM_000056.5:c.768C>T NP_000047.1:p.Tyr256= NC_000006.12:80200958:C:T p.(Tyr256=) NC_000006.12:80200958:C:T p.(Tyr256=) NC_000006.12:80200958:C:T Identity +NM_000138.5:c.2796A>G NP_000129.3:p.Ser932= NC_000015.10:48492518:T:C p.(Ser932=) NC_000015.10:48492518:T:C p.(Ser932=) NC_000015.10:48492518:T:C Identity +NM_000138.5:c.2241A>G NP_000129.3:p.Lys747= NC_000015.10:48497317:T:C p.(Lys747=) NC_000015.10:48497317:T:C p.(Lys747=) NC_000015.10:48497317:T:C Identity +NM_000056.5:c.96G>A NP_000047.1:p.Ala32= NC_000006.12:80106788:G:A p.(Ala32=) NC_000006.12:80106788:G:A p.(Ala32=) NC_000006.12:80106788:G:A Identity +NM_000056.5:c.12A>G NP_000047.1:p.Val4= NC_000006.12:80106704:A:G p.(Val4=) NC_000006.12:80106704:A:G p.(Val4=) NC_000006.12:80106704:A:G Identity +NM_000709.4:c.1197G>C NP_000700.1:p.Arg399= NC_000019.10:41424466:G:C p.(Arg399=) NC_000019.10:41424466:G:C p.(Arg399=) NC_000019.10:41424466:G:C Identity +NM_000709.4:c.504C>T NP_000700.1:p.Asp168= NC_000019.10:41419153:C:T p.(Asp168=) NC_000019.10:41419153:C:T p.(Asp168=) NC_000019.10:41419153:C:T Identity +NM_000138.5:c.4915del NP_000129.3:p.Tyr1638_Leu1639insTer NC_000015.10:48465594:GG:G p.(Leu1639Ter) NC_000015.10:48465594:GG:G p.(Leu1639Ter) NC_000015.10:48465594:G: Analogous +NM_000709.4:c.204C>A NP_000700.1:p.Ile68= NC_000019.10:41410731:C:A p.(Ile68=) NC_000019.10:41410731:C:A p.(Ile68=) NC_000019.10:41410731:C:A Identity +NM_000709.4:c.723C>T NP_000700.1:p.Ala241= NC_000019.10:41422239:C:T p.(Ala241=) NC_000019.10:41422239:C:T p.(Ala241=) NC_000019.10:41422239:C:T Identity +NM_001367624.2:c.7011C>T NP_001354553.1:p.Leu2337= NC_000016.10:88434480:C:T p.(Leu2337=) NC_000016.10:88434480:C:T p.(Leu2337=) NC_000016.10:88434480:C:T Identity +NM_001918.5:c.624T>C NP_001909.4:p.Tyr208= NC_000001.11:100216130:A:G p.(Tyr208=) NC_000001.11:100216130:A:G p.(Tyr208=) NC_000001.11:100216130:A:G Identity +NM_005502.4:c.2088C>T NP_005493.2:p.Ser696= NC_000009.12:104828942:G:A p.(Ser696=) NC_000009.12:104828942:G:A p.(Ser696=) NC_000009.12:104828942:G:A Identity +NM_001367624.2:c.8055T>C NP_001354553.1:p.Pro2685= NC_000016.10:88435524:T:C p.(Pro2685=) NC_000016.10:88435524:T:C p.(Pro2685=) NC_000016.10:88435524:T:C Identity +NM_000138.5:c.8241A>G NP_000129.3:p.Thr2747= NC_000015.10:48411364:T:C p.(Thr2747=) NC_000015.10:48411364:T:C p.(Thr2747=) NC_000015.10:48411364:T:C Identity +NM_001080976.3:c.1635T>C NP_001074445.1:p.Tyr545= NC_000006.12:116436102:T:C p.(Tyr545=) NC_000006.12:116436102:T:C p.(Tyr545=) NC_000006.12:116436102:T:C Identity +NM_000709.4:c.672G>A NP_000700.1:p.Lys224= NC_000019.10:41422188:G:A p.(Lys224=) NC_000019.10:41422188:G:A p.(Lys224=) NC_000019.10:41422188:G:A Identity +NM_000138.5:c.2004C>T NP_000129.3:p.Gly668= NC_000015.10:48503895:G:A p.(Gly668=) NC_000015.10:48503895:G:A p.(Gly668=) NC_000015.10:48503895:G:A Identity +NM_001918.5:c.288T>C NP_001909.4:p.Asp96= NC_000001.11:100230877:A:G p.(Asp96=) NC_000001.11:100230877:A:G p.(Asp96=) NC_000001.11:100230877:A:G Identity +NM_000138.5:c.2112A>C NP_000129.3:p.Ser704= NC_000015.10:48503787:T:G p.(Ser704=) NC_000015.10:48503787:T:G p.(Ser704=) NC_000015.10:48503787:T:G Identity +NM_001918.5:c.207C>T NP_001909.4:p.Leu69= NC_000001.11:100235479:G:A p.(Leu69=) NC_000001.11:100235479:G:A p.(Leu69=) NC_000001.11:100235479:G:A Identity +NM_000138.5:c.6915G>C NP_000129.3:p.Gly2305= NC_000015.10:48428427:C:G p.(Gly2305=) NC_000015.10:48428427:C:G p.(Gly2305=) NC_000015.10:48428427:C:G Identity +NM_000709.4:c.315C>T NP_000700.1:p.Leu105= NC_000019.10:41410948:C:T p.(Leu105=) NC_000019.10:41410948:C:T p.(Leu105=) NC_000019.10:41410948:C:T Identity +NM_000709.4:c.648G>C NP_000700.1:p.Ala216= NC_000019.10:41422164:G:C p.(Ala216=) NC_000019.10:41422164:G:C p.(Ala216=) NC_000019.10:41422164:G:C Identity +NM_017617.5:c.3814C>T NP_060087.3:p.Leu1272= NC_000009.12:136506802:G:A p.(Leu1272=) NC_000009.12:136506802:G:A p.(Leu1272=) NC_000009.12:136506802:G:A Identity +NM_000138.5:c.7728C>G NP_000129.3:p.Arg2576= NC_000015.10:48420777:G:C p.(Arg2576=) NC_000015.10:48420777:G:C p.(Arg2576=) NC_000015.10:48420777:G:C Identity +NM_001399969.1:c.327C>T NP_001386898.1:p.Leu109= NC_000001.11:100214885:G:A p.(Leu109=) NC_000001.11:100214885:G:A p.(Leu109=) NC_000001.11:100214885:G:A Identity +NM_001918.5:c.207C>G NP_001909.4:p.Leu69= NC_000001.11:100235479:G:C p.(Leu69=) NC_000001.11:100235479:G:C p.(Leu69=) NC_000001.11:100235479:G:C Identity +NM_000056.5:c.834C>T NP_000047.1:p.Gly278= NC_000006.12:80201024:C:T p.(Gly278=) NC_000006.12:80201024:C:T p.(Gly278=) NC_000006.12:80201024:C:T Identity +NM_000709.4:c.324C>T NP_000700.1:p.Ser108= NC_000019.10:41410957:C:T p.(Ser108=) NC_000019.10:41410957:C:T p.(Ser108=) NC_000019.10:41410957:C:T Identity +NM_001099952.4:c.1767G>A NP_001093422.2:p.Val589= NC_000003.12:4667429:G:A p.(Val589=) NC_000003.12:4667429:G:A p.(Val589=) NC_000003.12:4667429:G:A Identity +NM_000138.5:c.3537G>A NP_000129.3:p.Gln1179= NC_000015.10:48487126:C:T p.(Gln1179=) NC_000015.10:48487126:C:T p.(Gln1179=) NC_000015.10:48487126:C:T Identity +NM_001126131.2:c.149_166del NP_001119603.1:p.Gln50_Gln55del NC_000015.10:89333588:GCTGCTGTTGCTGCTGCTGCTGCTG:GCTGCTG p.(Gln50_Gln55del) NC_000015.10:89333588:GCTGCTGTTGCTGCTGCTGCTGCTG:GCTGCTG p.(Gln50_Gln55del) NC_000015.10:89333588:GCTGCTGTTGCTGCTGCT: Identity +NM_030665.4:c.3964C>A NP_109590.3:p.Arg1322= NC_000017.11:17796911:C:A p.(Arg1322=) NC_000017.11:17796911:C:A p.(Arg1322=) NC_000017.11:17796911:C:A Identity +NM_000138.5:c.6156G>A NP_000129.3:p.Arg2052= NC_000015.10:48441727:C:T p.(Arg2052=) NC_000015.10:48441727:C:T p.(Arg2052=) NC_000015.10:48441727:C:T Identity +NM_000709.4:c.342C>T NP_000700.1:p.Thr114= NC_000019.10:41410975:C:T p.(Thr114=) NC_000019.10:41410975:C:T p.(Thr114=) NC_000019.10:41410975:C:T Identity +NM_000709.4:c.459G>A NP_000700.1:p.Leu153= NC_000019.10:41414131:G:A p.(Leu153=) NC_000019.10:41414131:G:A p.(Leu153=) NC_000019.10:41414131:G:A Identity +NM_000138.5:c.7608G>A NP_000129.3:p.Gly2536= NC_000015.10:48421648:C:T p.(Gly2536=) NC_000015.10:48421648:C:T p.(Gly2536=) NC_000015.10:48421648:C:T Identity +NM_000138.5:c.5271C>A NP_000129.3:p.Ile1757= NC_000015.10:48460270:G:T p.(Ile1757=) NC_000015.10:48460270:G:T p.(Ile1757=) NC_000015.10:48460270:G:T Identity +NM_001365276.2:c.6651C>T NP_001352205.1:p.Pro2217= NC_000006.12:32065010:G:A p.(Pro2217=) NC_000006.12:32065010:G:A p.(Pro2217=) NC_000006.12:32065010:G:A Identity +NM_000138.5:c.7965G>T NP_000129.3:p.Ala2655= NC_000015.10:48415621:C:A p.(Ala2655=) NC_000015.10:48415621:C:A p.(Ala2655=) NC_000015.10:48415621:C:A Identity +NM_000296.4:c.2097G>C NP_000287.4:p.Ser699= NC_000016.10:2115377:C:G p.(Ser699=) NC_000016.10:2115377:C:G p.(Ser699=) NC_000016.10:2115377:C:G Identity +NM_000051.4:c.4800A>G NP_000042.3:p.Val1600= NC_000011.10:108294949:A:G p.(Val1600=) NC_000011.10:108294949:A:G p.(Val1600=) NC_000011.10:108294949:A:G Identity +NM_000138.5:c.72G>A NP_000129.3:p.Gly24= NC_000015.10:48644697:C:T p.(Gly24=) NC_000015.10:48644697:C:T p.(Gly24=) NC_000015.10:48644697:C:T Identity +NM_000138.5:c.7518C>A NP_000129.3:p.Gly2506= NC_000015.10:48422003:G:T p.(Gly2506=) NC_000015.10:48422003:G:T p.(Gly2506=) NC_000015.10:48422003:G:T Identity +NM_000138.5:c.8484A>G NP_000129.3:p.Ser2828= NC_000015.10:48411121:T:C p.(Ser2828=) NC_000015.10:48411121:T:C p.(Ser2828=) NC_000015.10:48411121:T:C Identity +NM_000138.5:c.3357A>G NP_000129.3:p.Arg1119= NC_000015.10:48487417:T:C p.(Arg1119=) NC_000015.10:48487417:T:C p.(Arg1119=) NC_000015.10:48487417:T:C Identity +NM_005027.4:c.579G>A NP_005018.2:p.Glu193= NC_000019.10:18161165:G:A p.(Glu193=) NC_000019.10:18161165:G:A p.(Glu193=) NC_000019.10:18161165:G:A Identity +NM_001371908.1:c.636C>T NP_001358837.1:p.His212= NC_000009.12:132989185:C:T p.(His212=) NC_000009.12:132989185:C:T p.(His212=) NC_000009.12:132989185:C:T Identity +NM_001005373.4:c.498G>T NP_001005373.1:p.Pro166= NC_000009.12:127462342:G:T p.(Pro166=) NC_000009.12:127462342:G:T p.(Pro166=) NC_000009.12:127462342:G:T Identity +NM_001424113.1:c.6747A>G NP_001411042.1:p.Thr2249= NC_000006.12:75124071:T:C p.(Thr2249=) NC_000006.12:75124071:T:C p.(Thr2249=) NC_000006.12:75124071:T:C Identity +NM_000368.5:c.812_813del NP_000359.1:p.Ser270_Tyr271insTer NC_000009.12:132912381:ATAT:AT p.(Tyr271Ter) NC_000009.12:132912381:ATAT:AT p.(Tyr271Ter) NC_000009.12:132912381:AT: Analogous +NM_001407936.1:c.3759A>G NP_001394865.1:p.Ser1253= NC_000017.11:43091504:T:C p.(Ser1253=) NC_000017.11:43091504:T:C p.(Ser1253=) NC_000017.11:43091504:T:C Identity +NM_001110556.2:c.4263C>T NP_001104026.1:p.Thr1421= NC_000023.11:154359285:G:A p.(Thr1421=) NC_000023.11:154359285:G:A p.(Thr1421=) NC_000023.11:154359285:G:A Identity +NM_001110556.2:c.3270C>T NP_001104026.1:p.Ile1090= NC_000023.11:154360524:G:A p.(Ile1090=) NC_000023.11:154360524:G:A p.(Ile1090=) NC_000023.11:154360524:G:A Identity +NM_001294332.2:c.540T>C NP_001281261.1:p.Asn180= NC_000005.10:228246:T:C p.(Asn180=) NC_000005.10:228246:T:C p.(Asn180=) NC_000005.10:228246:T:C Identity +NM_004360.5:c.1173C>T NP_004351.1:p.Val391= NC_000016.10:68813347:C:T p.(Val391=) NC_000016.10:68813347:C:T p.(Val391=) NC_000016.10:68813347:C:T Identity +NM_000059.4:c.7506C>T NP_000050.3:p.Arg2502= NC_000013.11:32356497:C:T p.(Arg2502=) NC_000013.11:32356497:C:T p.(Arg2502=) NC_000013.11:32356497:C:T Identity +NM_000179.3:c.2187C>A NP_000170.1:p.Ala729= NC_000002.12:47800169:C:A p.(Ala729=) NC_000002.12:47800169:C:A p.(Ala729=) NC_000002.12:47800169:C:A Identity +NM_000179.3:c.2658C>T NP_000170.1:p.Ile886= NC_000002.12:47800640:C:T p.(Ile886=) NC_000002.12:47800640:C:T p.(Ile886=) NC_000002.12:47800640:C:T Identity +NM_001317184.2:c.303C>T NP_001304113.1:p.Tyr101= NC_000016.10:68801808:C:T p.(Tyr101=) NC_000016.10:68801808:C:T p.(Tyr101=) NC_000016.10:68801808:C:T Identity +NM_024675.4:c.2418G>A NP_078951.2:p.Pro806= NC_000016.10:23629735:C:T p.(Pro806=) NC_000016.10:23629735:C:T p.(Pro806=) NC_000016.10:23629735:C:T Identity +NM_000179.3:c.1827A>G NP_000170.1:p.Leu609= NC_000002.12:47799809:A:G p.(Leu609=) NC_000002.12:47799809:A:G p.(Leu609=) NC_000002.12:47799809:A:G Identity +NM_024675.4:c.3282G>A NP_078951.2:p.Val1094= NC_000016.10:23607931:C:T p.(Val1094=) NC_000016.10:23607931:C:T p.(Val1094=) NC_000016.10:23607931:C:T Identity +NM_024675.4:c.2130G>A NP_078951.2:p.Thr710= NC_000016.10:23630023:C:T p.(Thr710=) NC_000016.10:23630023:C:T p.(Thr710=) NC_000016.10:23630023:C:T Identity +NM_000455.5:c.441T>C NP_000446.1:p.Arg147= NC_000019.10:1219389:T:C p.(Arg147=) NC_000019.10:1219389:T:C p.(Arg147=) NC_000019.10:1219389:T:C Identity +NM_000535.7:c.1629C>T NP_000526.2:p.Asp543= NC_000007.14:5987135:G:A p.(Asp543=) NC_000007.14:5987135:G:A p.(Asp543=) NC_000007.14:5987135:G:A Identity +NM_000455.5:c.756G>A NP_000446.1:p.Leu252= NC_000019.10:1221233:G:A p.(Leu252=) NC_000019.10:1221233:G:A p.(Leu252=) NC_000019.10:1221233:G:A Identity +NM_000455.5:c.1062C>T NP_000446.1:p.Phe354= NC_000019.10:1223125:C:T p.(Phe354=) NC_000019.10:1223125:C:T p.(Phe354=) NC_000019.10:1223125:C:T Identity +NM_000179.3:c.1509C>T NP_000170.1:p.Ser503= NC_000002.12:47799491:C:T p.(Ser503=) NC_000002.12:47799491:C:T p.(Ser503=) NC_000002.12:47799491:C:T Identity +NM_000059.4:c.4699C>T NP_000050.3:p.Leu1567= NC_000013.11:32339053:C:T p.(Leu1567=) NC_000013.11:32339053:C:T p.(Leu1567=) NC_000013.11:32339053:C:T Identity +NM_001142571.2:c.903C>T NP_001136043.1:p.Ile301= NC_000017.11:35101260:G:A p.(Ile301=) NC_000017.11:35101260:G:A p.(Ile301=) NC_000017.11:35101260:G:A Identity +NM_001035511.3:c.165C>T NP_001030588.1:p.His55= NC_000001.11:161328482:C:T p.(His55=) NC_000001.11:161328482:C:T p.(His55=) NC_000001.11:161328482:C:T Identity +NM_000179.3:c.3795A>G NP_000170.1:p.Gly1265= NC_000002.12:47806351:A:G p.(Gly1265=) NC_000002.12:47806351:A:G p.(Gly1265=) NC_000002.12:47806351:A:G Identity +NM_000535.7:c.1533G>A NP_000526.2:p.Thr511= NC_000007.14:5987231:C:T p.(Thr511=) NC_000007.14:5987231:C:T p.(Thr511=) NC_000007.14:5987231:C:T Identity +NM_001110556.2:c.3282C>G NP_001104026.1:p.Gly1094= NC_000023.11:154360512:G:C p.(Gly1094=) NC_000023.11:154360512:G:C p.(Gly1094=) NC_000023.11:154360512:G:C Identity +NM_001330540.2:c.677G>T NP_001317469.1:p.Ter226Leu NC_000001.11:45509213:G:T p.(Ter226LeuextTer14) NC_000001.11:45509213:G:T p.(Ter226LeuextTer14) NC_000001.11:45509213:G:T Analogous +NM_001110556.2:c.2538C>T NP_001104026.1:p.Tyr846= NC_000023.11:154362444:G:A p.(Tyr846=) NC_000023.11:154362444:G:A p.(Tyr846=) NC_000023.11:154362444:G:A Identity +NM_000059.4:c.747T>A NP_000050.3:p.Ser249= NC_000013.11:32330983:T:A p.(Ser249=) NC_000013.11:32330983:T:A p.(Ser249=) NC_000013.11:32330983:T:A Identity +NM_000535.7:c.2565C>T NP_000526.2:p.Asn855= NC_000007.14:5973422:G:A p.(Asn855=) NC_000007.14:5973422:G:A p.(Asn855=) NC_000007.14:5973422:G:A Identity +NM_000179.3:c.204G>A NP_000170.1:p.Lys68= NC_000002.12:47783436:G:A p.(Lys68=) NC_000002.12:47783436:G:A p.(Lys68=) NC_000002.12:47783436:G:A Identity +NM_024675.4:c.1758T>C NP_078951.2:p.Asp586= NC_000016.10:23630395:A:G p.(Asp586=) NC_000016.10:23630395:A:G p.(Asp586=) NC_000016.10:23630395:A:G Identity +NM_000264.5:c.3567C>T NP_000255.2:p.Gly1189= NC_000009.12:95449305:G:A p.(Gly1189=) NC_000009.12:95449305:G:A p.(Gly1189=) NC_000009.12:95449305:G:A Identity +NM_001294332.2:c.1389G>A NP_001281261.1:p.Leu463= NC_000005.10:240457:G:A p.(Leu463=) NC_000005.10:240457:G:A p.(Leu463=) NC_000005.10:240457:G:A Identity +NM_002876.4:c.75G>A NP_002867.1:p.Val25= NC_000017.11:58692717:G:A p.(Val25=) NC_000017.11:58692717:G:A p.(Val25=) NC_000017.11:58692717:G:A Identity +NM_000314.8:c.816C>T NP_000305.3:p.His272= NC_000010.11:87960907:C:T p.(His272=) NC_000010.11:87960907:C:T p.(His272=) NC_000010.11:87960907:C:T Identity +NM_001142571.2:c.51C>T NP_001136043.1:p.Ile17= NC_000017.11:35119562:G:A p.(Ile17=) NC_000017.11:35119562:G:A p.(Ile17=) NC_000017.11:35119562:G:A Identity +NM_000314.8:c.183T>C NP_000305.3:p.His61= NC_000010.11:87925530:T:C p.(His61=) NC_000010.11:87925530:T:C p.(His61=) NC_000010.11:87925530:T:C Identity +NM_000455.5:c.318G>T NP_000446.1:p.Arg106= NC_000019.10:1218443:G:T p.(Arg106=) NC_000019.10:1218443:G:T p.(Arg106=) NC_000019.10:1218443:G:T Identity +NM_024675.4:c.2274C>T NP_078951.2:p.Pro758= NC_000016.10:23629879:G:A p.(Pro758=) NC_000016.10:23629879:G:A p.(Pro758=) NC_000016.10:23629879:G:A Identity +NM_058216.3:c.651A>T NP_478123.1:p.Thr217= NC_000017.11:58703274:A:T p.(Thr217=) NC_000017.11:58703274:A:T p.(Thr217=) NC_000017.11:58703274:A:T Identity +NM_000179.3:c.3615A>G NP_000170.1:p.Thr1205= NC_000002.12:47805675:A:G p.(Thr1205=) NC_000002.12:47805675:A:G p.(Thr1205=) NC_000002.12:47805675:A:G Identity +NM_024675.4:c.1515C>T NP_078951.2:p.Ala505= NC_000016.10:23635030:G:A p.(Ala505=) NC_000016.10:23635030:G:A p.(Ala505=) NC_000016.10:23635030:G:A Identity +NM_000535.7:c.2385G>T NP_000526.2:p.Gly795= NC_000007.14:5977647:C:A p.(Gly795=) NC_000007.14:5977647:C:A p.(Gly795=) NC_000007.14:5977647:C:A Identity +NM_000179.3:c.1887T>C NP_000170.1:p.Asp629= NC_000002.12:47799869:T:C p.(Asp629=) NC_000002.12:47799869:T:C p.(Asp629=) NC_000002.12:47799869:T:C Identity +NM_000455.5:c.120C>T NP_000446.1:p.Arg40= NC_000019.10:1207032:C:T p.(Arg40=) NC_000019.10:1207032:C:T p.(Arg40=) NC_000019.10:1207032:C:T Identity +NM_000455.5:c.1245C>T NP_000446.1:p.Arg415= NC_000019.10:1226589:C:T p.(Arg415=) NC_000019.10:1226589:C:T p.(Arg415=) NC_000019.10:1226589:C:T Identity +NM_001276503.2:c.42A>G NP_001263432.1:p.Leu14= NC_000011.10:112086948:A:G p.(Leu14=) NC_000011.10:112086948:A:G p.(Leu14=) NC_000011.10:112086948:A:G Identity +NM_001330758.2:c.423C>T NP_001317687.1:p.Tyr141= NC_000005.10:225528:C:T p.(Tyr141=) NC_000005.10:225528:C:T p.(Tyr141=) NC_000005.10:225528:C:T Identity +NM_006231.4:c.1419C>T NP_006222.2:p.Tyr473= NC_000012.12:132673217:G:A p.(Tyr473=) NC_000012.12:132673217:G:A p.(Tyr473=) NC_000012.12:132673217:G:A Identity +NM_006231.4:c.957T>C NP_006222.2:p.Asp319= NC_000012.12:132676156:A:G p.(Asp319=) NC_000012.12:132676156:A:G p.(Asp319=) NC_000012.12:132676156:A:G Identity +NM_024675.4:c.3355C>T NP_078951.2:p.Leu1119= NC_000016.10:23603664:G:A p.(Leu1119=) NC_000016.10:23603664:G:A p.(Leu1119=) NC_000016.10:23603664:G:A Identity +NM_000296.4:c.12406C>T NP_000287.4:p.Leu4136= NC_000016.10:2090319:G:A p.(Leu4136=) NC_000016.10:2090319:G:A p.(Leu4136=) NC_000016.10:2090319:G:A Identity +NM_012452.3:c.831T>C NP_036584.1:p.Ser277= NC_000017.11:16939597:A:G p.(Ser277=) NC_000017.11:16939597:A:G p.(Ser277=) NC_000017.11:16939597:A:G Identity +NM_000199.5:c.1272_1282del NP_000190.1:p.Tyr424_Arg428delinsTer NC_000017.11:80210678:GGAGGTCCTTG: p.(Tyr424Ter) NC_000017.11:80210678:GGAGGTCCTTG: p.(Tyr424Ter) NC_000017.11:80210678:GGAGGTCCTTG: Analogous +NM_031935.3:c.5706C>T NP_114141.2:p.Asn1902= NC_000001.11:186023109:C:T p.(Asn1902=) NC_000001.11:186023109:C:T p.(Asn1902=) NC_000001.11:186023109:C:T Identity +NM_031935.3:c.12159T>G NP_114141.2:p.Ala4053= NC_000001.11:186120074:T:G p.(Ala4053=) NC_000001.11:186120074:T:G p.(Ala4053=) NC_000001.11:186120074:T:G Identity +NM_031935.3:c.15489C>T NP_114141.2:p.Asp5163= NC_000001.11:186166856:C:T p.(Asp5163=) NC_000001.11:186166856:C:T p.(Asp5163=) NC_000001.11:186166856:C:T Identity +NM_031935.3:c.15822T>C NP_114141.2:p.Asp5274= NC_000001.11:186174520:T:C p.(Asp5274=) NC_000001.11:186174520:T:C p.(Asp5274=) NC_000001.11:186174520:T:C Identity +NM_001039.4:c.1452C>A NP_001030.2:p.Leu484= NC_000016.10:23213121:C:A p.(Leu484=) NC_000016.10:23213121:C:A p.(Leu484=) NC_000016.10:23213121:C:A Identity +NM_016360.4:c.765C>G NP_057444.2:p.Ser255= NC_000017.11:63607872:C:G p.(Ser255=) NC_000017.11:63607872:C:G p.(Ser255=) NC_000017.11:63607872:C:G Identity +NM_001169109.2:c.162C>T NP_001162580.1:p.Gly54= NC_000022.11:50524249:G:A p.(Gly54=) NC_000022.11:50524249:G:A p.(Gly54=) NC_000022.11:50524249:G:A Identity +NM_024675.4:c.3474T>C NP_078951.2:p.His1158= NC_000016.10:23603545:A:G p.(His1158=) NC_000016.10:23603545:A:G p.(His1158=) NC_000016.10:23603545:A:G Identity +NM_001142571.2:c.690G>A NP_001136043.1:p.Ala230= NC_000017.11:35103490:C:T p.(Ala230=) NC_000017.11:35103490:C:T p.(Ala230=) NC_000017.11:35103490:C:T Identity +NM_000179.3:c.4074G>A NP_000170.1:p.Lys1358= NC_000002.12:47806850:G:A p.(Lys1358=) NC_000002.12:47806850:G:A p.(Lys1358=) NC_000002.12:47806850:G:A Identity +NM_001406791.1:c.1053T>C NP_001393720.1:p.His351= NC_000010.11:43118445:T:C p.(His351=) NC_000010.11:43118445:T:C p.(His351=) NC_000010.11:43118445:T:C Identity +NM_000179.3:c.3015A>G NP_000170.1:p.Arg1005= NC_000002.12:47800997:A:G p.(Arg1005=) NC_000002.12:47800997:A:G p.(Arg1005=) NC_000002.12:47800997:A:G Identity +NM_000179.3:c.1509C>A NP_000170.1:p.Ser503= NC_000002.12:47799491:C:A p.(Ser503=) NC_000002.12:47799491:C:A p.(Ser503=) NC_000002.12:47799491:C:A Identity +NM_000535.7:c.1920A>G NP_000526.2:p.Glu640= NC_000007.14:5986844:T:C p.(Glu640=) NC_000007.14:5986844:T:C p.(Glu640=) NC_000007.14:5986844:T:C Identity +NM_000368.5:c.2949_2957del NP_000359.1:p.985AAE[1] NC_000009.12:132897201:GCTGCTTCTGCT:GCT p.(Ala988_Glu990del) NC_000009.12:132897201:GCTGCTTCTGCT:GCT p.(Ala988_Glu990del) NC_000009.12:132897201:GCTGCTTCT: Analogous +NM_000455.5:c.171A>G NP_000446.1:p.Glu57= NC_000019.10:1207083:A:G p.(Glu57=) NC_000019.10:1207083:A:G p.(Glu57=) NC_000019.10:1207083:A:G Identity +NM_000455.5:c.234G>A NP_000446.1:p.Lys78= NC_000019.10:1207146:G:A p.(Lys78=) NC_000019.10:1207146:G:A p.(Lys78=) NC_000019.10:1207146:G:A Identity +NM_024675.4:c.2877A>T NP_078951.2:p.Val959= NC_000016.10:23623087:T:A p.(Val959=) NC_000016.10:23623087:T:A p.(Val959=) NC_000016.10:23623087:T:A Identity +NM_000179.3:c.993A>G NP_000170.1:p.Ser331= NC_000002.12:47798975:A:G p.(Ser331=) NC_000002.12:47798975:A:G p.(Ser331=) NC_000002.12:47798975:A:G Identity +NM_000179.3:c.2124A>G NP_000170.1:p.Glu708= NC_000002.12:47800106:A:G p.(Glu708=) NC_000002.12:47800106:A:G p.(Glu708=) NC_000002.12:47800106:A:G Identity +NM_001142571.2:c.498C>T NP_001136043.1:p.Leu166= NC_000017.11:35107029:G:A p.(Leu166=) NC_000017.11:35107029:G:A p.(Leu166=) NC_000017.11:35107029:G:A Identity +NM_000535.7:c.171G>A NP_000526.2:p.Lys57= NC_000007.14:6004050:C:T p.(Lys57=) NC_000007.14:6004050:C:T p.(Lys57=) NC_000007.14:6004050:C:T Identity +NM_001294332.2:c.1053G>A NP_001281261.1:p.Pro351= NC_000005.10:235275:G:A p.(Pro351=) NC_000005.10:235275:G:A p.(Pro351=) NC_000005.10:235275:G:A Identity +NM_001294332.2:c.996G>A NP_001281261.1:p.Leu332= NC_000005.10:235218:G:A p.(Leu332=) NC_000005.10:235218:G:A p.(Leu332=) NC_000005.10:235218:G:A Identity +NM_003000.3:c.540G>A NP_002991.2:p.Leu180= NC_000001.11:17027748:C:T p.(Leu180=) NC_000001.11:17027748:C:T p.(Leu180=) NC_000001.11:17027748:C:T Identity +NM_000132.4:c.1569G>T NP_000123.1:p.Leu523= NC_000023.11:154957139:C:A p.(Leu523=) NC_000023.11:154957139:C:A p.(Leu523=) NC_000023.11:154957139:C:A Identity +NM_000179.3:c.3480C>G NP_000170.1:p.Val1160= NC_000002.12:47804950:C:G p.(Val1160=) NC_000002.12:47804950:C:G p.(Val1160=) NC_000002.12:47804950:C:G Identity +NM_000179.3:c.762T>C NP_000170.1:p.Ser254= NC_000002.12:47798744:T:C p.(Ser254=) NC_000002.12:47798744:T:C p.(Ser254=) NC_000002.12:47798744:T:C Identity +NM_000179.3:c.816A>G NP_000170.1:p.Glu272= NC_000002.12:47798798:A:G p.(Glu272=) NC_000002.12:47798798:A:G p.(Glu272=) NC_000002.12:47798798:A:G Identity +NM_000535.7:c.909C>T NP_000526.2:p.Cys303= NC_000007.14:5992051:G:A p.(Cys303=) NC_000007.14:5992051:G:A p.(Cys303=) NC_000007.14:5992051:G:A Identity +NM_000455.5:c.399G>A NP_000446.1:p.Val133= NC_000019.10:1219347:G:A p.(Val133=) NC_000019.10:1219347:G:A p.(Val133=) NC_000019.10:1219347:G:A Identity +NM_003000.3:c.720A>G NP_002991.2:p.Leu240= NC_000001.11:17022652:T:C p.(Leu240=) NC_000001.11:17022652:T:C p.(Leu240=) NC_000001.11:17022652:T:C Identity +NM_024675.4:c.102C>T NP_078951.2:p.Arg34= NC_000016.10:23638075:G:A p.(Arg34=) NC_000016.10:23638075:G:A p.(Arg34=) NC_000016.10:23638075:G:A Identity +NM_024675.4:c.375A>G NP_078951.2:p.Gln125= NC_000016.10:23636170:T:C p.(Gln125=) NC_000016.10:23636170:T:C p.(Gln125=) NC_000016.10:23636170:T:C Identity +NM_024675.4:c.759A>G NP_078951.2:p.Leu253= NC_000016.10:23635786:T:C p.(Leu253=) NC_000016.10:23635786:T:C p.(Leu253=) NC_000016.10:23635786:T:C Identity +NM_000368.5:c.2508A>C NP_000359.1:p.Ser836= NC_000009.12:132900831:T:G p.(Ser836=) NC_000009.12:132900831:T:G p.(Ser836=) NC_000009.12:132900831:T:G Identity +NM_000314.8:c.585T>C NP_000305.3:p.Phe195= NC_000010.11:87952209:T:C p.(Phe195=) NC_000010.11:87952209:T:C p.(Phe195=) NC_000010.11:87952209:T:C Identity +NM_001294332.2:c.1234C>T NP_001281261.1:p.Leu412= NC_000005.10:236544:C:T p.(Leu412=) NC_000005.10:236544:C:T p.(Leu412=) NC_000005.10:236544:C:T Identity +NM_001294332.2:c.1782A>G NP_001281261.1:p.Arg594= NC_000005.10:256350:A:G p.(Arg594=) NC_000005.10:256350:A:G p.(Arg594=) NC_000005.10:256350:A:G Identity +LRG_1237t1:c.1371G>T LRG_1237p1:p.Pro457= NC_000016.10:67657611:C:A ERR:Data provider error: ValueError: Transcript LRG_1237t1 not found ERR:Data provider error: ValueError: Transcript LRG_1237t1 not found ERR:AlignmentMapper(tx_ac=LRG_1237t1, alt_ac=LRG_1237t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1237t1, alt_ac=LRG_1237t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1237t1 not found +NM_000535.7:c.2397G>A NP_000526.2:p.Arg799= NC_000007.14:5977635:C:T p.(Arg799=) NC_000007.14:5977635:C:T p.(Arg799=) NC_000007.14:5977635:C:T Identity +NM_000314.8:c.288A>G NP_000305.3:p.Pro96= NC_000010.11:87933046:A:G p.(Pro96=) NC_000010.11:87933046:A:G p.(Pro96=) NC_000010.11:87933046:A:G Identity +NM_000535.7:c.525G>A NP_000526.2:p.Arg175= NC_000007.14:6002464:C:T p.(Arg175=) NC_000007.14:6002464:C:T p.(Arg175=) NC_000007.14:6002464:C:T Identity +NM_001256849.1:c.1029C>T NP_001243778.1:p.Arg343= NC_000019.10:50403110:C:T p.(Arg343=) NC_000019.10:50403110:C:T p.(Arg343=) NC_000019.10:50403110:C:T Identity +NM_001256849.1:c.1461G>A NP_001243778.1:p.Glu487= NC_000019.10:50406483:G:A p.(Glu487=) NC_000019.10:50406483:G:A p.(Glu487=) NC_000019.10:50406483:G:A Identity +NM_001256849.1:c.1029C>G NP_001243778.1:p.Arg343= NC_000019.10:50403110:C:G p.(Arg343=) NC_000019.10:50403110:C:G p.(Arg343=) NC_000019.10:50403110:C:G Identity +NM_001256849.1:c.1551C>T NP_001243778.1:p.Tyr517= NC_000019.10:50407038:C:T p.(Tyr517=) NC_000019.10:50407038:C:T p.(Tyr517=) NC_000019.10:50407038:C:T Identity +NM_005359.6:c.591C>G NP_005350.1:p.Thr197= NC_000018.10:51054916:C:G p.(Thr197=) NC_000018.10:51054916:C:G p.(Thr197=) NC_000018.10:51054916:C:G Identity +NM_000323.2:c.2448C>A NP_000314.1:p.Leu816= NC_000010.11:43119585:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_005359.6:c.939C>T NP_005350.1:p.Pro313= NC_000018.10:51059899:C:T p.(Pro313=) NC_000018.10:51059899:C:T p.(Pro313=) NC_000018.10:51059899:C:T Identity +NM_000455.5:c.1011G>A NP_000446.1:p.Val337= NC_000019.10:1223074:G:A p.(Val337=) NC_000019.10:1223074:G:A p.(Val337=) NC_000019.10:1223074:G:A Identity +NM_000179.3:c.2764C>A NP_000170.1:p.Arg922= NC_000002.12:47800746:C:A p.(Arg922=) NC_000002.12:47800746:C:A p.(Arg922=) NC_000002.12:47800746:C:A Identity +NM_000179.3:c.801A>C NP_000170.1:p.Pro267= NC_000002.12:47798783:A:C p.(Pro267=) NC_000002.12:47798783:A:C p.(Pro267=) NC_000002.12:47798783:A:C Identity +NM_024675.4:c.1413A>G NP_078951.2:p.Gly471= NC_000016.10:23635132:T:C p.(Gly471=) NC_000016.10:23635132:T:C p.(Gly471=) NC_000016.10:23635132:T:C Identity +NM_000535.7:c.744T>C NP_000526.2:p.Ser248= NC_000007.14:5997384:A:G p.(Ser248=) NC_000007.14:5997384:A:G p.(Ser248=) NC_000007.14:5997384:A:G Identity +NM_000535.7:c.2175A>G NP_000526.2:p.Ala725= NC_000007.14:5978695:T:C p.(Ala725=) NC_000007.14:5978695:T:C p.(Ala725=) NC_000007.14:5978695:T:C Identity +NM_024675.4:c.195G>T NP_078951.2:p.Pro65= NC_000016.10:23637865:C:A p.(Pro65=) NC_000016.10:23637865:C:A p.(Pro65=) NC_000016.10:23637865:C:A Identity +NM_001367624.2:c.11022G>A NP_001354553.1:p.Ala3674= NC_000016.10:88438491:G:A p.(Ala3674=) NC_000016.10:88438491:G:A p.(Ala3674=) NC_000016.10:88438491:G:A Identity +NM_001110556.2:c.1092C>T NP_001104026.1:p.His364= NC_000023.11:154366443:G:A p.(His364=) NC_000023.11:154366443:G:A p.(His364=) NC_000023.11:154366443:G:A Identity +NM_024675.4:c.1968A>T NP_078951.2:p.Pro656= NC_000016.10:23630185:T:A p.(Pro656=) NC_000016.10:23630185:T:A p.(Pro656=) NC_000016.10:23630185:T:A Identity +NM_001294332.2:c.1149T>C NP_001281261.1:p.Ile383= NC_000005.10:236459:T:C p.(Ile383=) NC_000005.10:236459:T:C p.(Ile383=) NC_000005.10:236459:T:C Identity +NM_024675.4:c.882A>G NP_078951.2:p.Lys294= NC_000016.10:23635663:T:C p.(Lys294=) NC_000016.10:23635663:T:C p.(Lys294=) NC_000016.10:23635663:T:C Identity +NM_000535.7:c.1092T>C NP_000526.2:p.Asp364= NC_000007.14:5989851:A:G p.(Asp364=) NC_000007.14:5989851:A:G p.(Asp364=) NC_000007.14:5989851:A:G Identity +NM_001110556.2:c.5715G>A NP_001104026.1:p.Pro1905= NC_000023.11:154353698:C:T p.(Pro1905=) NC_000023.11:154353698:C:T p.(Pro1905=) NC_000023.11:154353698:C:T Identity +NM_017946.4:c.467_468del NP_060416.1:p.Leu155_Ser156insTer NC_000007.14:30019004:AGAGAG:AGAG p.(Ser156Ter) NC_000007.14:30019004:AGAGAG:AGAG p.(Ser156Ter) NC_000007.14:30019004:AG: Analogous +NM_000535.7:c.33T>C NP_000526.2:p.Pro11= NC_000007.14:6006021:A:G p.(Pro11=) NC_000007.14:6006021:A:G p.(Pro11=) NC_000007.14:6006021:A:G Identity +NM_000535.7:c.348A>G NP_000526.2:p.Ala116= NC_000007.14:6003694:T:C p.(Ala116=) NC_000007.14:6003694:T:C p.(Ala116=) NC_000007.14:6003694:T:C Identity +NM_000179.3:c.1707C>T NP_000170.1:p.Phe569= NC_000002.12:47799689:C:T p.(Phe569=) NC_000002.12:47799689:C:T p.(Phe569=) NC_000002.12:47799689:C:T Identity +NM_000535.7:c.513G>A NP_000526.2:p.Lys171= NC_000007.14:6002476:C:T p.(Lys171=) NC_000007.14:6002476:C:T p.(Lys171=) NC_000007.14:6002476:C:T Identity +NM_001379277.1:c.1641A>G NP_001366206.1:p.Glu547= NC_000007.14:92079128:A:G p.(Glu547=) NC_000007.14:92079128:A:G p.(Glu547=) NC_000007.14:92079128:A:G Identity +NM_001244008.2:c.3747C>G NP_001230937.1:p.Gly1249= NC_000002.12:240741270:G:C p.(Gly1249=) NC_000002.12:240741270:G:C p.(Gly1249=) NC_000002.12:240741270:G:C Identity +NM_001162427.2:c.1605del NP_001155899.1:p.Pro534_Cys535insTer NC_000009.12:132905819:A: p.(Cys535Ter) NC_000009.12:132905819:A: p.(Cys535Ter) NC_000009.12:132905819:A: Analogous +NM_000368.5:c.1332A>C NP_000359.1:p.Ser444= NC_000009.12:132907301:T:G p.(Ser444=) NC_000009.12:132907301:T:G p.(Ser444=) NC_000009.12:132907301:T:G Identity +NM_001256849.1:c.1573C>A NP_001243778.1:p.Arg525= NC_000019.10:50407060:C:A p.(Arg525=) NC_000019.10:50407060:C:A p.(Arg525=) NC_000019.10:50407060:C:A Identity +NM_012452.3:c.165C>T NP_036584.1:p.Asn55= NC_000017.11:16952479:G:A p.(Asn55=) NC_000017.11:16952479:G:A p.(Asn55=) NC_000017.11:16952479:G:A Identity +NM_012452.3:c.519C>T NP_036584.1:p.Ala173= NC_000017.11:16940437:G:A p.(Ala173=) NC_000017.11:16940437:G:A p.(Ala173=) NC_000017.11:16940437:G:A Identity +NM_001294332.2:c.327C>T NP_001281261.1:p.Gly109= NC_000005.10:225896:C:T p.(Gly109=) NC_000005.10:225896:C:T p.(Gly109=) NC_000005.10:225896:C:T Identity +NM_001294332.2:c.1749C>T NP_001281261.1:p.Asp583= NC_000005.10:254490:C:T p.(Asp583=) NC_000005.10:254490:C:T p.(Asp583=) NC_000005.10:254490:C:T Identity +NM_001294332.2:c.1059T>C NP_001281261.1:p.Pro353= NC_000005.10:235281:T:C p.(Pro353=) NC_000005.10:235281:T:C p.(Pro353=) NC_000005.10:235281:T:C Identity +NM_001378454.1:c.12174C>T NP_001365383.1:p.Arg4058= NC_000002.12:73602243:C:T p.(Arg4058=) NC_000002.12:73602243:C:T p.(Arg4058=) NC_000002.12:73602243:C:T Identity +NM_000199.5:c.726C>T NP_000190.1:p.Thr242= NC_000017.11:80213822:G:A p.(Thr242=) NC_000017.11:80213822:G:A p.(Thr242=) NC_000017.11:80213822:G:A Identity +NM_000455.5:c.693C>T NP_000446.1:p.Phe231= NC_000019.10:1220675:C:T p.(Phe231=) NC_000019.10:1220675:C:T p.(Phe231=) NC_000019.10:1220675:C:T Identity +NM_002876.4:c.255T>C NP_002867.1:p.Cys85= NC_000017.11:58695039:T:C p.(Cys85=) NC_000017.11:58695039:T:C p.(Cys85=) NC_000017.11:58695039:T:C Identity +NM_005359.6:c.1479T>C NP_005350.1:p.Asp493= NC_000018.10:51078286:T:C p.(Asp493=) NC_000018.10:51078286:T:C p.(Asp493=) NC_000018.10:51078286:T:C Identity +NM_003000.3:c.738C>T NP_002991.2:p.Ile246= NC_000001.11:17022634:G:A p.(Ile246=) NC_000001.11:17022634:G:A p.(Ile246=) NC_000001.11:17022634:G:A Identity +NM_001110556.2:c.5283C>T NP_001104026.1:p.Tyr1761= NC_000023.11:154354645:G:A p.(Tyr1761=) NC_000023.11:154354645:G:A p.(Tyr1761=) NC_000023.11:154354645:G:A Identity +NM_000378.6:c.567G>T NP_000369.4:p.Pro189= NC_000011.10:32434793:C:A p.(Pro189=) NC_000011.10:32434793:C:A p.(Pro189=) NC_000011.10:32434793:C:A Identity +NM_001110556.2:c.7350C>T NP_001104026.1:p.Phe2450= NC_000023.11:154349850:G:A p.(Phe2450=) NC_000023.11:154349850:G:A p.(Phe2450=) NC_000023.11:154349850:G:A Identity +NM_001110556.2:c.5889A>G NP_001104026.1:p.Leu1963= NC_000023.11:154353428:T:C p.(Leu1963=) NC_000023.11:154353428:T:C p.(Leu1963=) NC_000023.11:154353428:T:C Identity +NM_001849.4:c.525G>A NP_001840.3:p.Leu175= NC_000021.9:46112387:G:A p.(Leu175=) NC_000021.9:46112387:G:A p.(Leu175=) NC_000021.9:46112387:G:A Identity +NM_001294332.2:c.651C>T NP_001281261.1:p.Ser217= NC_000005.10:230899:C:T p.(Ser217=) NC_000005.10:230899:C:T p.(Ser217=) NC_000005.10:230899:C:T Identity +NM_000368.5:c.1935A>G NP_000359.1:p.Pro645= NC_000009.12:132905642:T:C p.(Pro645=) NC_000009.12:132905642:T:C p.(Pro645=) NC_000009.12:132905642:T:C Identity +NM_002181.4:c.207C>A NP_002172.2:p.Gly69= NC_000002.12:219060260:G:T p.(Gly69=) NC_000002.12:219060260:G:T p.(Gly69=) NC_000002.12:219060260:G:T Identity +NM_001294332.2:c.1233C>T NP_001281261.1:p.Asp411= NC_000005.10:236543:C:T p.(Asp411=) NC_000005.10:236543:C:T p.(Asp411=) NC_000005.10:236543:C:T Identity +NM_006231.4:c.825C>T NP_006222.2:p.Asp275= NC_000012.12:132676629:G:A p.(Asp275=) NC_000012.12:132676629:G:A p.(Asp275=) NC_000012.12:132676629:G:A Identity +NM_000368.5:c.1737T>C NP_000359.1:p.Ser579= NC_000009.12:132905840:A:G p.(Ser579=) NC_000009.12:132905840:A:G p.(Ser579=) NC_000009.12:132905840:A:G Identity +NM_000314.8:c.423T>C NP_000305.3:p.His141= NC_000010.11:87933181:T:C p.(His141=) NC_000010.11:87933181:T:C p.(His141=) NC_000010.11:87933181:T:C Identity +NM_058216.3:c.693A>G NP_478123.1:p.Ser231= NC_000017.11:58703316:A:G p.(Ser231=) NC_000017.11:58703316:A:G p.(Ser231=) NC_000017.11:58703316:A:G Identity +NM_000455.5:c.609G>T NP_000446.1:p.Pro203= NC_000019.10:1220591:G:T p.(Pro203=) NC_000019.10:1220591:G:T p.(Pro203=) NC_000019.10:1220591:G:T Identity +NM_000368.5:c.2556G>T NP_000359.1:p.Leu852= NC_000009.12:132900783:C:A p.(Leu852=) NC_000009.12:132900783:C:A p.(Leu852=) NC_000009.12:132900783:C:A Identity +NM_000368.5:c.201A>C NP_000359.1:p.Pro67= NC_000009.12:132927209:T:G p.(Pro67=) NC_000009.12:132927209:T:G p.(Pro67=) NC_000009.12:132927209:T:G Identity +NM_000314.8:c.396T>C NP_000305.3:p.Gly132= NC_000010.11:87933154:T:C p.(Gly132=) NC_000010.11:87933154:T:C p.(Gly132=) NC_000010.11:87933154:T:C Identity +NM_000314.8:c.708C>T NP_000305.3:p.Asp236= NC_000010.11:87957925:C:T p.(Asp236=) NC_000010.11:87957925:C:T p.(Asp236=) NC_000010.11:87957925:C:T Identity +NM_000368.5:c.2145G>T NP_000359.1:p.Arg715= NC_000009.12:132903713:C:A p.(Arg715=) NC_000009.12:132903713:C:A p.(Arg715=) NC_000009.12:132903713:C:A Identity +NM_024675.4:c.507C>G NP_078951.2:p.Leu169= NC_000016.10:23636038:G:C p.(Leu169=) NC_000016.10:23636038:G:C p.(Leu169=) NC_000016.10:23636038:G:C Identity +NM_000179.3:c.1902G>A NP_000170.1:p.Leu634= NC_000002.12:47799884:G:A p.(Leu634=) NC_000002.12:47799884:G:A p.(Leu634=) NC_000002.12:47799884:G:A Identity +NM_001294332.2:c.19C>T NP_001281261.1:p.Leu7= NC_000005.10:218373:C:T p.(Leu7=) NC_000005.10:218373:C:T p.(Leu7=) NC_000005.10:218373:C:T Identity +NM_000455.5:c.69C>T NP_000446.1:p.Asp23= NC_000019.10:1206981:C:T p.(Asp23=) NC_000019.10:1206981:C:T p.(Asp23=) NC_000019.10:1206981:C:T Identity +NM_001294332.2:c.1548G>A NP_001281261.1:p.Glu516= NC_000005.10:251365:G:A p.(Glu516=) NC_000005.10:251365:G:A p.(Glu516=) NC_000005.10:251365:G:A Identity +NM_024675.4:c.1621A>C NP_078951.2:p.Arg541= NC_000016.10:23634924:T:G p.(Arg541=) NC_000016.10:23634924:T:G p.(Arg541=) NC_000016.10:23634924:T:G Identity +NM_000455.5:c.384G>C NP_000446.1:p.Val128= NC_000019.10:1219332:G:C p.(Val128=) NC_000019.10:1219332:G:C p.(Val128=) NC_000019.10:1219332:G:C Identity +NM_000535.7:c.288C>G NP_000526.2:p.Ala96= NC_000007.14:6003754:G:C p.(Ala96=) NC_000007.14:6003754:G:C p.(Ala96=) NC_000007.14:6003754:G:C Identity +NM_000368.5:c.36C>A NP_000359.1:p.Ala12= NC_000009.12:132928836:G:T p.(Ala12=) NC_000009.12:132928836:G:T p.(Ala12=) NC_000009.12:132928836:G:T Identity +NM_000179.3:c.1593C>G NP_000170.1:p.Pro531= NC_000002.12:47799575:C:G p.(Pro531=) NC_000002.12:47799575:C:G p.(Pro531=) NC_000002.12:47799575:C:G Identity +NM_001242466.2:c.957C>T NP_001229395.1:p.Ala319= NC_000005.10:68297471:C:T p.(Ala319=) NC_000005.10:68297471:C:T p.(Ala319=) NC_000005.10:68297471:C:T Identity +NM_024675.4:c.2727T>G NP_078951.2:p.Leu909= NC_000016.10:23626256:A:C p.(Leu909=) NC_000016.10:23626256:A:C p.(Leu909=) NC_000016.10:23626256:A:C Identity +NM_000179.3:c.1317T>C NP_000170.1:p.Asp439= NC_000002.12:47799299:T:C p.(Asp439=) NC_000002.12:47799299:T:C p.(Asp439=) NC_000002.12:47799299:T:C Identity +NM_000535.7:c.2529T>C NP_000526.2:p.Cys843= NC_000007.14:5973458:A:G p.(Cys843=) NC_000007.14:5973458:A:G p.(Cys843=) NC_000007.14:5973458:A:G Identity +NM_000179.3:c.3576T>C NP_000170.1:p.Val1192= NC_000002.12:47805636:T:C p.(Val1192=) NC_000002.12:47805636:T:C p.(Val1192=) NC_000002.12:47805636:T:C Identity +NM_000314.8:c.555T>C NP_000305.3:p.His185= NC_000010.11:87952179:T:C p.(His185=) NC_000010.11:87952179:T:C p.(His185=) NC_000010.11:87952179:T:C Identity +NM_006231.4:c.804C>T NP_006222.2:p.Asp268= NC_000012.12:132676650:G:A p.(Asp268=) NC_000012.12:132676650:G:A p.(Asp268=) NC_000012.12:132676650:G:A Identity +NM_000455.5:c.1065C>T NP_000446.1:p.Asp355= NC_000019.10:1223128:C:T p.(Asp355=) NC_000019.10:1223128:C:T p.(Asp355=) NC_000019.10:1223128:C:T Identity +NM_005359.6:c.1206T>C NP_005350.1:p.Leu402= NC_000018.10:51067084:T:C p.(Leu402=) NC_000018.10:51067084:T:C p.(Leu402=) NC_000018.10:51067084:T:C Identity +NM_000455.5:c.1284G>T NP_000446.1:p.Ser428= NC_000019.10:1226628:G:T p.(Ser428=) NC_000019.10:1226628:G:T p.(Ser428=) NC_000019.10:1226628:G:T Identity +NM_001142571.2:c.12C>T NP_001136043.1:p.Leu4= NC_000017.11:35119601:G:A p.(Leu4=) NC_000017.11:35119601:G:A p.(Leu4=) NC_000017.11:35119601:G:A Identity +NM_001294332.2:c.1746G>C NP_001281261.1:p.Val582= NC_000005.10:254487:G:C p.(Val582=) NC_000005.10:254487:G:C p.(Val582=) NC_000005.10:254487:G:C Identity +NM_000323.2:c.2088G>T NP_000314.1:p.Ser696= NC_000010.11:43114687:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000179.3:c.2394C>T NP_000170.1:p.Leu798= NC_000002.12:47800376:C:T p.(Leu798=) NC_000002.12:47800376:C:T p.(Leu798=) NC_000002.12:47800376:C:T Identity +NM_024675.4:c.2811A>G NP_078951.2:p.Gly937= NC_000016.10:23624031:T:C p.(Gly937=) NC_000016.10:23624031:T:C p.(Gly937=) NC_000016.10:23624031:T:C Identity +NM_001142571.2:c.84G>A NP_001136043.1:p.Val28= NC_000017.11:35119170:C:T p.(Val28=) NC_000017.11:35119170:C:T p.(Val28=) NC_000017.11:35119170:C:T Identity +NM_003000.3:c.327C>T NP_002991.2:p.Asn109= NC_000001.11:17028695:G:A p.(Asn109=) NC_000001.11:17028695:G:A p.(Asn109=) NC_000001.11:17028695:G:A Identity +NM_000179.3:c.45G>A NP_000170.1:p.Pro15= NC_000002.12:47783277:G:A p.(Pro15=) NC_000002.12:47783277:G:A p.(Pro15=) NC_000002.12:47783277:G:A Identity +NM_001294332.2:c.666C>T NP_001281261.1:p.His222= NC_000005.10:230914:C:T p.(His222=) NC_000005.10:230914:C:T p.(His222=) NC_000005.10:230914:C:T Identity +NM_000368.5:c.1182TCC[6] NP_000359.1:p.Pro395_Pro397dup NC_000009.12:132910643:GGAGGAGGAG:GGAGGAGGAGGAGGAGGAG p.(Pro395_Pro397dup) NC_000009.12:132910651:A:GGAGGAGGAGGAGGAGGA ERR:Parse ERR:Parse Identity +NM_000368.5:c.2730G>A NP_000359.1:p.Leu910= NC_000009.12:132897505:C:T p.(Leu910=) NC_000009.12:132897505:C:T p.(Leu910=) NC_000009.12:132897505:C:T Identity +NM_001014796.3:c.421C>T NP_001014796.1:p.Leu141= NC_000001.11:162755158:C:T p.(Leu141=) NC_000001.11:162755158:C:T p.(Leu141=) NC_000001.11:162755158:C:T Identity +NM_024675.4:c.1128T>C NP_078951.2:p.Ser376= NC_000016.10:23635417:A:G p.(Ser376=) NC_000016.10:23635417:A:G p.(Ser376=) NC_000016.10:23635417:A:G Identity +NM_000535.7:c.540G>A NP_000526.2:p.Glu180= NC_000007.14:5999272:C:T p.(Glu180=) NC_000007.14:5999272:C:T p.(Glu180=) NC_000007.14:5999272:C:T Identity +NM_002876.4:c.96C>T NP_002867.1:p.Phe32= NC_000017.11:58692738:C:T p.(Phe32=) NC_000017.11:58692738:C:T p.(Phe32=) NC_000017.11:58692738:C:T Identity +NM_000179.3:c.327G>A NP_000170.1:p.Leu109= NC_000002.12:47790992:G:A p.(Leu109=) NC_000002.12:47790992:G:A p.(Leu109=) NC_000002.12:47790992:G:A Identity +NM_000179.3:c.2919T>C NP_000170.1:p.Gly973= NC_000002.12:47800901:T:C p.(Gly973=) NC_000002.12:47800901:T:C p.(Gly973=) NC_000002.12:47800901:T:C Identity +NM_000323.2:c.960C>A NP_000314.1:p.Pro320= NC_000010.11:43106467:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.2409C>A NP_000314.1:p.Ile803= NC_000010.11:43119546:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000314.8:c.582G>A NP_000305.3:p.Leu194= NC_000010.11:87952206:G:A p.(Leu194=) NC_000010.11:87952206:G:A p.(Leu194=) NC_000010.11:87952206:G:A Identity +NM_000179.3:c.510T>G NP_000170.1:p.Pro170= NC_000002.12:47795945:T:G p.(Pro170=) NC_000002.12:47795945:T:G p.(Pro170=) NC_000002.12:47795945:T:G Identity +NM_006231.4:c.1011A>G NP_006222.2:p.Glu337= NC_000012.12:132676102:T:C p.(Glu337=) NC_000012.12:132676102:T:C p.(Glu337=) NC_000012.12:132676102:T:C Identity +NM_000368.5:c.3198T>G NP_000359.1:p.Thr1066= NC_000009.12:132896531:A:C p.(Thr1066=) NC_000009.12:132896531:A:C p.(Thr1066=) NC_000009.12:132896531:A:C Identity +NM_001110556.2:c.2175C>T NP_001104026.1:p.Asp725= NC_000023.11:154364126:G:A p.(Asp725=) NC_000023.11:154364126:G:A p.(Asp725=) NC_000023.11:154364126:G:A Identity +NM_001294332.2:c.565C>T NP_001281261.1:p.Leu189= NC_000005.10:228271:C:T p.(Leu189=) NC_000005.10:228271:C:T p.(Leu189=) NC_000005.10:228271:C:T Identity +NM_024675.4:c.276T>C NP_078951.2:p.Thr92= NC_000016.10:23636269:A:G p.(Thr92=) NC_000016.10:23636269:A:G p.(Thr92=) NC_000016.10:23636269:A:G Identity +NM_001142571.2:c.990C>T NP_001136043.1:p.Asp330= NC_000017.11:35101009:G:A p.(Asp330=) NC_000017.11:35101009:G:A p.(Asp330=) NC_000017.11:35101009:G:A Identity +NM_001110556.2:c.4155G>A NP_001104026.1:p.Thr1385= NC_000023.11:154359393:C:T p.(Thr1385=) NC_000023.11:154359393:C:T p.(Thr1385=) NC_000023.11:154359393:C:T Identity +NM_001354609.2:c.915G>A NP_001341538.1:p.Ala305= NC_000007.14:140800426:C:T p.(Ala305=) NC_000007.14:140800426:C:T p.(Ala305=) NC_000007.14:140800426:C:T Identity +NM_000535.7:c.600A>C NP_000526.2:p.Val200= NC_000007.14:5999212:T:G p.(Val200=) NC_000007.14:5999212:T:G p.(Val200=) NC_000007.14:5999212:T:G Identity +NM_001031847.3:c.1719C>T NP_001027017.1:p.Ala573= NC_000011.10:68773285:G:A p.(Ala573=) NC_000011.10:68773285:G:A p.(Ala573=) NC_000011.10:68773285:G:A Identity +NM_001256850.1:c.95097A>G NP_001243779.1:p.Gln31699= NC_000002.12:178537088:T:C p.(Gln31699=) NC_000002.12:178537088:T:C p.(Gln31699=) NC_000002.12:178537088:T:C Identity +NM_003000.3:c.663C>T NP_002991.2:p.Asp221= NC_000001.11:17022709:G:A p.(Asp221=) NC_000001.11:17022709:G:A p.(Asp221=) NC_000001.11:17022709:G:A Identity +NM_024675.4:c.3141A>G NP_078951.2:p.Lys1047= NC_000016.10:23614063:T:C p.(Lys1047=) NC_000016.10:23614063:T:C p.(Lys1047=) NC_000016.10:23614063:T:C Identity +NM_001110556.2:c.5487C>T NP_001104026.1:p.Thr1829= NC_000023.11:154354220:G:A p.(Thr1829=) NC_000023.11:154354220:G:A p.(Thr1829=) NC_000023.11:154354220:G:A Identity +NM_000368.5:c.1212T>C NP_000359.1:p.Asp404= NC_000009.12:132910621:A:G p.(Asp404=) NC_000009.12:132910621:A:G p.(Asp404=) NC_000009.12:132910621:A:G Identity +NM_001110556.2:c.4911G>C NP_001104026.1:p.Val1637= NC_000023.11:154357467:C:G p.(Val1637=) NC_000023.11:154357467:C:G p.(Val1637=) NC_000023.11:154357467:C:G Identity +NM_001110556.2:c.5115C>T NP_001104026.1:p.Asp1705= NC_000023.11:154354926:G:A p.(Asp1705=) NC_000023.11:154354926:G:A p.(Asp1705=) NC_000023.11:154354926:G:A Identity +NM_012452.3:c.531C>T NP_036584.1:p.Cys177= NC_000017.11:16940425:G:A p.(Cys177=) NC_000017.11:16940425:G:A p.(Cys177=) NC_000017.11:16940425:G:A Identity +NM_000368.5:c.57G>C NP_000359.1:p.Leu19= NC_000009.12:132928815:C:G p.(Leu19=) NC_000009.12:132928815:C:G p.(Leu19=) NC_000009.12:132928815:C:G Identity +NM_000368.5:c.1647G>A NP_000359.1:p.Lys549= NC_000009.12:132905930:C:T p.(Lys549=) NC_000009.12:132905930:C:T p.(Lys549=) NC_000009.12:132905930:C:T Identity +NM_000455.5:c.729C>A NP_000446.1:p.Val243= NC_000019.10:1220711:C:A p.(Val243=) NC_000019.10:1220711:C:A p.(Val243=) NC_000019.10:1220711:C:A Identity +NM_001330758.2:c.345G>A NP_001317687.1:p.Glu115= NC_000005.10:225450:G:A p.(Glu115=) NC_000005.10:225450:G:A p.(Glu115=) NC_000005.10:225450:G:A Identity +NM_001244008.2:c.3456C>T NP_001230937.1:p.His1152= NC_000002.12:240745435:G:A p.(His1152=) NC_000002.12:240745435:G:A p.(His1152=) NC_000002.12:240745435:G:A Identity +NM_012452.3:c.870C>A NP_036584.1:p.Gly290= NC_000017.11:16939558:G:T p.(Gly290=) NC_000017.11:16939558:G:T p.(Gly290=) NC_000017.11:16939558:G:T Identity +NM_006231.4:c.1224C>G NP_006222.2:p.Leu408= NC_000012.12:132675399:G:C p.(Leu408=) NC_000012.12:132675399:G:C p.(Leu408=) NC_000012.12:132675399:G:C Identity +NM_000179.3:c.48G>A NP_000170.1:p.Ala16= NC_000002.12:47783280:G:A p.(Ala16=) NC_000002.12:47783280:G:A p.(Ala16=) NC_000002.12:47783280:G:A Identity +NM_000368.5:c.2739A>G NP_000359.1:p.Glu913= NC_000009.12:132897496:T:C p.(Glu913=) NC_000009.12:132897496:T:C p.(Glu913=) NC_000009.12:132897496:T:C Identity +NM_000368.5:c.2463G>A NP_000359.1:p.Val821= NC_000009.12:132901627:C:T p.(Val821=) NC_000009.12:132901627:C:T p.(Val821=) NC_000009.12:132901627:C:T Identity +NM_000484.4:c.462C>G NP_000475.1:p.Ala154= NC_000021.9:26053241:G:C p.(Ala154=) NC_000021.9:26053241:G:C p.(Ala154=) NC_000021.9:26053241:G:C Identity +NM_000179.3:c.3522T>C NP_000170.1:p.Phe1174= NC_000002.12:47804992:T:C p.(Phe1174=) NC_000002.12:47804992:T:C p.(Phe1174=) NC_000002.12:47804992:T:C Identity +NM_000455.5:c.1068C>A NP_000446.1:p.Ile356= NC_000019.10:1223131:C:A p.(Ile356=) NC_000019.10:1223131:C:A p.(Ile356=) NC_000019.10:1223131:C:A Identity +NM_000340.2:c.457_462del NP_000331.1:p.Leu153_Ile154del NC_000003.12:171009991:TATAAGTATA:TATA p.(Leu153_Ile154del) NC_000003.12:171009991:TATAAGTATA:TATA p.(Leu153_Ile154del) NC_000003.12:171009991:TATAAG: Identity +NM_000222.3:c.1461C>T NP_000213.1:p.Gly487= NC_000004.12:54725970:C:T p.(Gly487=) NC_000004.12:54725970:C:T p.(Gly487=) NC_000004.12:54725970:C:T Identity +NM_001110556.2:c.4755G>A NP_001104026.1:p.Thr1585= NC_000023.11:154358198:C:T p.(Thr1585=) NC_000023.11:154358198:C:T p.(Thr1585=) NC_000023.11:154358198:C:T Identity +NM_001244008.2:c.3087G>C NP_001230937.1:p.Val1029= NC_000002.12:240746153:C:G p.(Val1029=) NC_000002.12:240746153:C:G p.(Val1029=) NC_000002.12:240746153:C:G Identity +NM_000179.3:c.2379T>C NP_000170.1:p.Asp793= NC_000002.12:47800361:T:C p.(Asp793=) NC_000002.12:47800361:T:C p.(Asp793=) NC_000002.12:47800361:T:C Identity +NM_000179.3:c.2649G>A NP_000170.1:p.Lys883= NC_000002.12:47800631:G:A p.(Lys883=) NC_000002.12:47800631:G:A p.(Lys883=) NC_000002.12:47800631:G:A Identity +NM_000535.7:c.591C>A NP_000526.2:p.Gly197= NC_000007.14:5999221:G:T p.(Gly197=) NC_000007.14:5999221:G:T p.(Gly197=) NC_000007.14:5999221:G:T Identity +NM_001244008.2:c.5056C>T NP_001230937.1:p.Leu1686= NC_000002.12:240719163:G:A p.(Leu1686=) NC_000002.12:240719163:G:A p.(Leu1686=) NC_000002.12:240719163:G:A Identity +NM_001256849.1:c.846G>T NP_001243778.1:p.Thr282= NC_000019.10:50402616:G:T p.(Thr282=) NC_000019.10:50402616:G:T p.(Thr282=) NC_000019.10:50402616:G:T Identity +NM_000088.4:c.1776C>T NP_000079.2:p.Pro592= NC_000017.11:50193038:G:A p.(Pro592=) NC_000017.11:50193038:G:A p.(Pro592=) NC_000017.11:50193038:G:A Identity +NM_001365819.1:c.399G>T NP_001352748.1:p.Thr133= NC_000022.11:50467573:C:A p.(Thr133=) NC_000022.11:50467573:C:A p.(Thr133=) NC_000022.11:50467573:C:A Identity +NM_001382629.1:c.1053C>T NP_001369558.1:p.Ile351= NC_000006.12:73600416:G:A p.(Ile351=) NC_000006.12:73600416:G:A p.(Ile351=) NC_000006.12:73600416:G:A Identity +NM_001244008.2:c.3759G>C NP_001230937.1:p.Pro1253= NC_000002.12:240740354:C:G p.(Pro1253=) NC_000002.12:240740354:C:G p.(Pro1253=) NC_000002.12:240740354:C:G Identity +NM_001294332.2:c.642C>T NP_001281261.1:p.Thr214= NC_000005.10:230890:C:T p.(Thr214=) NC_000005.10:230890:C:T p.(Thr214=) NC_000005.10:230890:C:T Identity +NM_001382629.1:c.1089G>C NP_001369558.1:p.Gly363= NC_000006.12:73600380:C:G p.(Gly363=) NC_000006.12:73600380:C:G p.(Gly363=) NC_000006.12:73600380:C:G Identity +NM_000368.5:c.2031C>T NP_000359.1:p.Thr677= NC_000009.12:132904420:G:A p.(Thr677=) NC_000009.12:132904420:G:A p.(Thr677=) NC_000009.12:132904420:G:A Identity +NM_012452.3:c.870C>T NP_036584.1:p.Gly290= NC_000017.11:16939558:G:A p.(Gly290=) NC_000017.11:16939558:G:A p.(Gly290=) NC_000017.11:16939558:G:A Identity +NM_022454.4:c.1206C>G NP_071899.1:p.Ala402= NC_000008.11:54459955:C:G p.(Ala402=) NC_000008.11:54459955:C:G p.(Ala402=) NC_000008.11:54459955:C:G Identity +NM_000455.5:c.1245C>A NP_000446.1:p.Arg415= NC_000019.10:1226589:C:A p.(Arg415=) NC_000019.10:1226589:C:A p.(Arg415=) NC_000019.10:1226589:C:A Identity +NM_001244008.2:c.375C>T NP_001230937.1:p.Asp125= NC_000002.12:240787304:G:A p.(Asp125=) NC_000002.12:240787304:G:A p.(Asp125=) NC_000002.12:240787304:G:A Identity +NM_001244008.2:c.1098C>T NP_001230937.1:p.Asn366= NC_000002.12:240773195:G:A p.(Asn366=) NC_000002.12:240773195:G:A p.(Asn366=) NC_000002.12:240773195:G:A Identity +NM_001244008.2:c.3957G>A NP_001230937.1:p.Leu1319= NC_000002.12:240737112:C:T p.(Leu1319=) NC_000002.12:240737112:C:T p.(Leu1319=) NC_000002.12:240737112:C:T Identity +NM_022454.4:c.57G>C NP_071899.1:p.Ala19= NC_000008.11:54458194:G:C p.(Ala19=) NC_000008.11:54458194:G:C p.(Ala19=) NC_000008.11:54458194:G:C Identity +NM_000368.5:c.1173A>G NP_000359.1:p.Pro391= NC_000009.12:132910660:T:C p.(Pro391=) NC_000009.12:132910660:T:C p.(Pro391=) NC_000009.12:132910660:T:C Identity +NM_005359.6:c.429C>T NP_005350.1:p.Leu143= NC_000018.10:51049298:C:T p.(Leu143=) NC_000018.10:51049298:C:T p.(Leu143=) NC_000018.10:51049298:C:T Identity +NM_001382629.1:c.237T>C NP_001369558.1:p.Ala79= NC_000006.12:73641747:A:G p.(Ala79=) NC_000006.12:73641747:A:G p.(Ala79=) NC_000006.12:73641747:A:G Identity +NM_001407296.1:c.1521T>C NP_001394225.1:p.Cys507= NC_000016.10:23634964:A:G p.(Cys507=) NC_000016.10:23634964:A:G p.(Cys507=) NC_000016.10:23634964:A:G Identity +NM_001110556.2:c.4332T>C NP_001104026.1:p.Asp1444= NC_000023.11:154359125:A:G p.(Asp1444=) NC_000023.11:154359125:A:G p.(Asp1444=) NC_000023.11:154359125:A:G Identity +NM_001110556.2:c.6174C>T NP_001104026.1:p.His2058= NC_000023.11:154353052:G:A p.(His2058=) NC_000023.11:154353052:G:A p.(His2058=) NC_000023.11:154353052:G:A Identity +NM_001110556.2:c.6306C>T NP_001104026.1:p.Cys2102= NC_000023.11:154352844:G:A p.(Cys2102=) NC_000023.11:154352844:G:A p.(Cys2102=) NC_000023.11:154352844:G:A Identity +NM_000455.5:c.903G>A NP_000446.1:p.Arg301= NC_000019.10:1221988:G:A p.(Arg301=) NC_000019.10:1221988:G:A p.(Arg301=) NC_000019.10:1221988:G:A Identity +NM_006231.4:c.936T>A NP_006222.2:p.Ile312= NC_000012.12:132676177:A:T p.(Ile312=) NC_000012.12:132676177:A:T p.(Ile312=) NC_000012.12:132676177:A:T Identity +NM_001290307.3:c.9T>A NP_001277236.1:p.Ala3= NC_000005.10:138781932:T:A p.(Ala3=) NC_000005.10:138781932:T:A p.(Ala3=) NC_000005.10:138781932:T:A Identity +NM_001256849.1:c.1636C>T NP_001243778.1:p.Leu546= NC_000019.10:50407123:C:T p.(Leu546=) NC_000019.10:50407123:C:T p.(Leu546=) NC_000019.10:50407123:C:T Identity +NM_001407296.1:c.1681T>C NP_001394225.1:p.Leu561= NC_000016.10:23630412:A:G p.(Leu561=) NC_000016.10:23630412:A:G p.(Leu561=) NC_000016.10:23630412:A:G Identity +NM_000179.3:c.2136G>A NP_000170.1:p.Leu712= NC_000002.12:47800118:G:A p.(Leu712=) NC_000002.12:47800118:G:A p.(Leu712=) NC_000002.12:47800118:G:A Identity +NM_001382629.1:c.861C>T NP_001369558.1:p.Arg287= NC_000006.12:73615333:G:A p.(Arg287=) NC_000006.12:73615333:G:A p.(Arg287=) NC_000006.12:73615333:G:A Identity +NM_000179.3:c.2748T>C NP_000170.1:p.Phe916= NC_000002.12:47800730:T:C p.(Phe916=) NC_000002.12:47800730:T:C p.(Phe916=) NC_000002.12:47800730:T:C Identity +LRG_2t1:c.2964T>C LRG_2p1:p.Gly988= NC_000007.14:94426017:T:C ERR:Data provider error: ValueError: Transcript LRG_2t1 not found ERR:Data provider error: ValueError: Transcript LRG_2t1 not found ERR:AlignmentMapper(tx_ac=LRG_2t1, alt_ac=LRG_2t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_2t1, alt_ac=LRG_2t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_2t1 not found +NM_000368.5:c.3015A>T NP_000359.1:p.Val1005= NC_000009.12:132896714:T:A p.(Val1005=) NC_000009.12:132896714:T:A p.(Val1005=) NC_000009.12:132896714:T:A Identity +NM_001379646.1:c.4689G>C NP_001366575.1:p.Leu1563= NC_000002.12:240720915:C:G p.(Leu1563=) NC_000002.12:240720915:C:G p.(Leu1563=) NC_000002.12:240720915:C:G Identity +NM_001130847.4:c.174T>A NP_001124319.1:p.Gly58= NC_000023.11:130156535:A:T p.(Gly58=) NC_000023.11:130156535:A:T p.(Gly58=) NC_000023.11:130156535:A:T Identity +NM_001244008.2:c.1446T>C NP_001230937.1:p.Gly482= NC_000002.12:240769183:A:G p.(Gly482=) NC_000002.12:240769183:A:G p.(Gly482=) NC_000002.12:240769183:A:G Identity +NM_000323.2:c.2451C>A NP_000314.1:p.Arg817= NC_000010.11:43119588:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001244008.2:c.2881C>T NP_001230937.1:p.Leu961= NC_000002.12:240750524:G:A p.(Leu961=) NC_000002.12:240750524:G:A p.(Leu961=) NC_000002.12:240750524:G:A Identity +NM_001244008.2:c.1827C>G NP_001230937.1:p.Ala609= NC_000002.12:240763287:G:C p.(Ala609=) NC_000002.12:240763287:G:C p.(Ala609=) NC_000002.12:240763287:G:C Identity +NM_001110556.2:c.1311G>A NP_001104026.1:p.Arg437= NC_000023.11:154366141:C:T p.(Arg437=) NC_000023.11:154366141:C:T p.(Arg437=) NC_000023.11:154366141:C:T Identity +NM_000455.5:c.1206C>T NP_000446.1:p.Thr402= NC_000019.10:1226550:C:T p.(Thr402=) NC_000019.10:1226550:C:T p.(Thr402=) NC_000019.10:1226550:C:T Identity +NM_001407296.1:c.795A>C NP_001394225.1:p.Ser265= NC_000016.10:23635690:T:G p.(Ser265=) NC_000016.10:23635690:T:G p.(Ser265=) NC_000016.10:23635690:T:G Identity +NM_001244008.2:c.807C>T NP_001230937.1:p.Ala269= NC_000002.12:240783100:G:A p.(Ala269=) NC_000002.12:240783100:G:A p.(Ala269=) NC_000002.12:240783100:G:A Identity +NM_001276504.2:c.75C>A NP_001263433.1:p.Leu25= NC_000011.10:112088888:C:A p.(Leu25=) NC_000011.10:112088888:C:A p.(Leu25=) NC_000011.10:112088888:C:A Identity +NM_001382630.1:c.9T>A NP_001369559.1:p.Ser3= NC_000006.12:73653877:A:T p.(Ser3=) NC_000006.12:73653877:A:T p.(Ser3=) NC_000006.12:73653877:A:T Identity +NM_001244008.2:c.2517T>C NP_001230937.1:p.Cys839= NC_000002.12:240758424:A:G p.(Cys839=) NC_000002.12:240758424:A:G p.(Cys839=) NC_000002.12:240758424:A:G Identity +NM_012452.3:c.18G>C NP_036584.1:p.Arg6= NC_000017.11:16972057:C:G p.(Arg6=) NC_000017.11:16972057:C:G p.(Arg6=) NC_000017.11:16972057:C:G Identity +NM_000368.5:c.1260G>A NP_000359.1:p.Arg420= NC_000009.12:132910573:C:T p.(Arg420=) NC_000009.12:132910573:C:T p.(Arg420=) NC_000009.12:132910573:C:T Identity +NM_001110556.2:c.4707C>T NP_001104026.1:p.Thr1569= NC_000023.11:154358246:G:A p.(Thr1569=) NC_000023.11:154358246:G:A p.(Thr1569=) NC_000023.11:154358246:G:A Identity +NM_001110556.2:c.7491C>T NP_001104026.1:p.Ile2497= NC_000023.11:154349709:G:A p.(Ile2497=) NC_000023.11:154349709:G:A p.(Ile2497=) NC_000023.11:154349709:G:A Identity +NM_001110556.2:c.2370C>T NP_001104026.1:p.Thr790= NC_000023.11:154362694:G:A p.(Thr790=) NC_000023.11:154362694:G:A p.(Thr790=) NC_000023.11:154362694:G:A Identity +NM_001382629.1:c.1092C>T NP_001369558.1:p.Pro364= NC_000006.12:73600377:G:A p.(Pro364=) NC_000006.12:73600377:G:A p.(Pro364=) NC_000006.12:73600377:G:A Identity +NM_001110556.2:c.2949G>A NP_001104026.1:p.Val983= NC_000023.11:154361565:C:T p.(Val983=) NC_000023.11:154361565:C:T p.(Val983=) NC_000023.11:154361565:C:T Identity +NM_001407041.1:c.1599C>T NP_001393970.1:p.Leu533= NC_000018.10:51078406:C:T p.(Leu533=) NC_000018.10:51078406:C:T p.(Leu533=) NC_000018.10:51078406:C:T Identity +NM_001407041.1:c.1041T>C NP_001393970.1:p.Ile347= NC_000018.10:51065507:T:C p.(Ile347=) NC_000018.10:51065507:T:C p.(Ile347=) NC_000018.10:51065507:T:C Identity +NM_000368.5:c.3051G>A NP_000359.1:p.Glu1017= NC_000009.12:132896678:C:T p.(Glu1017=) NC_000009.12:132896678:C:T p.(Glu1017=) NC_000009.12:132896678:C:T Identity +NM_001407296.1:c.2934A>C NP_001394225.1:p.Gly978= NC_000016.10:23622970:T:G p.(Gly978=) NC_000016.10:23622970:T:G p.(Gly978=) NC_000016.10:23622970:T:G Identity +NM_000179.3:c.21G>A NP_000170.1:p.Leu7= NC_000002.12:47783253:G:A p.(Leu7=) NC_000002.12:47783253:G:A p.(Leu7=) NC_000002.12:47783253:G:A Identity +NM_001382630.1:c.138C>T NP_001369559.1:p.Ala46= NC_000006.12:73644559:G:A p.(Ala46=) NC_000006.12:73644559:G:A p.(Ala46=) NC_000006.12:73644559:G:A Identity +NM_001142571.2:c.927C>G NP_001136043.1:p.Gly309= NC_000017.11:35101236:G:C p.(Gly309=) NC_000017.11:35101236:G:C p.(Gly309=) NC_000017.11:35101236:G:C Identity +NM_012452.3:c.72C>A NP_036584.1:p.Gly24= NC_000017.11:16952572:G:T p.(Gly24=) NC_000017.11:16952572:G:T p.(Gly24=) NC_000017.11:16952572:G:T Identity +NM_012452.3:c.36G>C NP_036584.1:p.Arg12= NC_000017.11:16972039:C:G p.(Arg12=) NC_000017.11:16972039:C:G p.(Arg12=) NC_000017.11:16972039:C:G Identity +NM_001110556.2:c.3852T>C NP_001104026.1:p.Ala1284= NC_000023.11:154359858:A:G p.(Ala1284=) NC_000023.11:154359858:A:G p.(Ala1284=) NC_000023.11:154359858:A:G Identity +NM_001110556.2:c.2631C>T NP_001104026.1:p.Ala877= NC_000023.11:154362266:G:A p.(Ala877=) NC_000023.11:154362266:G:A p.(Ala877=) NC_000023.11:154362266:G:A Identity +NM_001110556.2:c.5241G>C NP_001104026.1:p.Ser1747= NC_000023.11:154354687:C:G p.(Ser1747=) NC_000023.11:154354687:C:G p.(Ser1747=) NC_000023.11:154354687:C:G Identity +NM_001110556.2:c.4632T>C NP_001104026.1:p.Asp1544= NC_000023.11:154358321:A:G p.(Asp1544=) NC_000023.11:154358321:A:G p.(Asp1544=) NC_000023.11:154358321:A:G Identity +NM_001110556.2:c.1560G>A NP_001104026.1:p.Lys520= NC_000023.11:154365355:C:T p.(Lys520=) NC_000023.11:154365355:C:T p.(Lys520=) NC_000023.11:154365355:C:T Identity +NM_001276503.2:c.78C>T NP_001263432.1:p.Val26= NC_000011.10:112087881:C:T p.(Val26=) NC_000011.10:112087881:C:T p.(Val26=) NC_000011.10:112087881:C:T Identity +NM_001110556.2:c.3498A>C NP_001104026.1:p.Ser1166= NC_000023.11:154360296:T:G p.(Ser1166=) NC_000023.11:154360296:T:G p.(Ser1166=) NC_000023.11:154360296:T:G Identity +NM_001256849.1:c.978C>T NP_001243778.1:p.Phe326= NC_000019.10:50403059:C:T p.(Phe326=) NC_000019.10:50403059:C:T p.(Phe326=) NC_000019.10:50403059:C:T Identity +NM_001382629.1:c.819C>T NP_001369558.1:p.Asp273= NC_000006.12:73615375:G:A p.(Asp273=) NC_000006.12:73615375:G:A p.(Asp273=) NC_000006.12:73615375:G:A Identity +NM_000179.3:c.1647T>G NP_000170.1:p.Ser549= NC_000002.12:47799629:T:G p.(Ser549=) NC_000002.12:47799629:T:G p.(Ser549=) NC_000002.12:47799629:T:G Identity +NM_003172.4:c.312T>G NP_003163.1:p.Pro104= NC_000009.12:133354669:A:C p.(Pro104=) NC_000009.12:133354669:A:C p.(Pro104=) NC_000009.12:133354669:A:C Identity +NM_001256849.1:c.1002C>T NP_001243778.1:p.Val334= NC_000019.10:50403083:C:T p.(Val334=) NC_000019.10:50403083:C:T p.(Val334=) NC_000019.10:50403083:C:T Identity +NM_000059.4:c.9156G>A NP_000050.3:p.Arg3052= NC_000013.11:32380044:G:A p.(Arg3052=) NC_000013.11:32380044:G:A p.(Arg3052=) NC_000013.11:32380044:G:A Identity +NM_000455.5:c.213G>A NP_000446.1:p.Thr71= NC_000019.10:1207125:G:A p.(Thr71=) NC_000019.10:1207125:G:A p.(Thr71=) NC_000019.10:1207125:G:A Identity +NM_000368.5:c.399C>T NP_000359.1:p.Val133= NC_000009.12:132923456:G:A p.(Val133=) NC_000009.12:132923456:G:A p.(Val133=) NC_000009.12:132923456:G:A Identity +NM_000314.8:c.544T>C NP_000305.3:p.Leu182= NC_000010.11:87952168:T:C p.(Leu182=) NC_000010.11:87952168:T:C p.(Leu182=) NC_000010.11:87952168:T:C Identity +NM_000368.5:c.1106_1108dup NP_000359.1:p.Leu369_Ser370insLeu NC_000009.12:132911034:ACA:ACAACA p.(Leu369dup) NC_000009.12:132911034:ACA:ACAACA p.(Leu369dup) ERR:SPDI Analogous +NM_001244008.2:c.4485C>T NP_001230937.1:p.Tyr1495= NC_000002.12:240722635:G:A p.(Tyr1495=) NC_000002.12:240722635:G:A p.(Tyr1495=) NC_000002.12:240722635:G:A Identity +NM_181523.3:c.75C>T NP_852664.1:p.His25= NC_000005.10:68226749:C:T p.(His25=) NC_000005.10:68226749:C:T p.(His25=) NC_000005.10:68226749:C:T Identity +NM_001110556.2:c.1821C>T NP_001104026.1:p.Gly607= NC_000023.11:154364827:G:A p.(Gly607=) NC_000023.11:154364827:G:A p.(Gly607=) NC_000023.11:154364827:G:A Identity +NM_001110556.2:c.1617C>T NP_001104026.1:p.Gly539= NC_000023.11:154365209:G:A p.(Gly539=) NC_000023.11:154365209:G:A p.(Gly539=) NC_000023.11:154365209:G:A Identity +NM_001110556.2:c.1182T>C NP_001104026.1:p.Ser394= NC_000023.11:154366353:A:G p.(Ser394=) NC_000023.11:154366353:A:G p.(Ser394=) NC_000023.11:154366353:A:G Identity +NM_001244008.2:c.3819C>T NP_001230937.1:p.Gly1273= NC_000002.12:240740139:G:A p.(Gly1273=) NC_000002.12:240740139:G:A p.(Gly1273=) NC_000002.12:240740139:G:A Identity +NM_001110556.2:c.7140C>T NP_001104026.1:p.Val2380= NC_000023.11:154350924:G:A p.(Val2380=) NC_000023.11:154350924:G:A p.(Val2380=) NC_000023.11:154350924:G:A Identity +NM_001110556.2:c.6063G>C NP_001104026.1:p.Val2021= NC_000023.11:154353163:C:G p.(Val2021=) NC_000023.11:154353163:C:G p.(Val2021=) NC_000023.11:154353163:C:G Identity +NM_001110556.2:c.4485G>A NP_001104026.1:p.Glu1495= NC_000023.11:154358557:C:T p.(Glu1495=) NC_000023.11:154358557:C:T p.(Glu1495=) NC_000023.11:154358557:C:T Identity +NM_001131019.3:c.951C>T NP_001124491.1:p.His317= NC_000017.11:44911411:G:A p.(His317=) NC_000017.11:44911411:G:A p.(His317=) NC_000017.11:44911411:G:A Identity +NM_000296.4:c.6759C>A NP_000287.4:p.Pro2253= NC_000016.10:2108407:G:T p.(Pro2253=) NC_000016.10:2108407:G:T p.(Pro2253=) NC_000016.10:2108407:G:T Identity +NM_017433.5:c.1924C>A NP_059129.3:p.Arg642= NC_000010.11:26125417:C:A p.(Arg642=) NC_000010.11:26125417:C:A p.(Arg642=) NC_000010.11:26125417:C:A Identity +NM_001322009.2:c.1905T>G NP_001308938.1:p.Ala635= NC_000007.14:5977755:A:C p.(Ala635=) NC_000007.14:5977755:A:C p.(Ala635=) NC_000007.14:5977755:A:C Identity +NM_000535.7:c.834T>C NP_000526.2:p.His278= NC_000007.14:5995602:A:G p.(His278=) NC_000007.14:5995602:A:G p.(His278=) NC_000007.14:5995602:A:G Identity +NM_000535.7:c.124T>C NP_000526.2:p.Leu42= NC_000007.14:6005930:A:G p.(Leu42=) NC_000007.14:6005930:A:G p.(Leu42=) NC_000007.14:6005930:A:G Identity +NM_001407041.1:c.417T>C NP_001393970.1:p.Pro139= NC_000018.10:51048852:T:C p.(Pro139=) NC_000018.10:51048852:T:C p.(Pro139=) NC_000018.10:51048852:T:C Identity +NM_001407296.1:c.3312A>G NP_001394225.1:p.Lys1104= NC_000016.10:23603647:T:C p.(Lys1104=) NC_000016.10:23603647:T:C p.(Lys1104=) NC_000016.10:23603647:T:C Identity +NM_000179.3:c.2463A>G NP_000170.1:p.Leu821= NC_000002.12:47800445:A:G p.(Leu821=) NC_000002.12:47800445:A:G p.(Leu821=) NC_000002.12:47800445:A:G Identity +NM_000455.5:c.405C>T NP_000446.1:p.Gly135= NC_000019.10:1219353:C:T p.(Gly135=) NC_000019.10:1219353:C:T p.(Gly135=) NC_000019.10:1219353:C:T Identity +NM_000179.3:c.2097G>A NP_000170.1:p.Glu699= NC_000002.12:47800079:G:A p.(Glu699=) NC_000002.12:47800079:G:A p.(Glu699=) NC_000002.12:47800079:G:A Identity +NM_000314.8:c.972T>C NP_000305.3:p.Asp324= NC_000010.11:87961063:T:C p.(Asp324=) NC_000010.11:87961063:T:C p.(Asp324=) NC_000010.11:87961063:T:C Identity +NM_001407296.1:c.2823G>A NP_001394225.1:p.Leu941= NC_000016.10:23623081:C:T p.(Leu941=) NC_000016.10:23623081:C:T p.(Leu941=) NC_000016.10:23623081:C:T Identity +NM_000179.3:c.876C>T NP_000170.1:p.Ser292= NC_000002.12:47798858:C:T p.(Ser292=) NC_000002.12:47798858:C:T p.(Ser292=) NC_000002.12:47798858:C:T Identity +NM_058216.3:c.1005C>T NP_478123.1:p.Cys335= NC_000017.11:58732522:C:T p.(Cys335=) NC_000017.11:58732522:C:T p.(Cys335=) NC_000017.11:58732522:C:T Identity +NM_000535.7:c.798T>C NP_000526.2:p.Leu266= NC_000007.14:5997330:A:G p.(Leu266=) NC_000007.14:5997330:A:G p.(Leu266=) NC_000007.14:5997330:A:G Identity +NM_000179.3:c.2565T>C NP_000170.1:p.Ile855= NC_000002.12:47800547:T:C p.(Ile855=) NC_000002.12:47800547:T:C p.(Ile855=) NC_000002.12:47800547:T:C Identity +NM_002878.4:c.150G>A NP_002869.3:p.Leu50= NC_000017.11:35118613:C:T p.(Leu50=) NC_000017.11:35118613:C:T p.(Leu50=) NC_000017.11:35118613:C:T Identity +NM_000535.7:c.1219A>C NP_000526.2:p.Arg407= NC_000007.14:5987545:T:G p.(Arg407=) NC_000007.14:5987545:T:G p.(Arg407=) NC_000007.14:5987545:T:G Identity +NM_001407297.1:c.57G>A NP_001394226.1:p.Glu19= NC_000016.10:23638120:C:T p.(Glu19=) NC_000016.10:23638120:C:T p.(Glu19=) NC_000016.10:23638120:C:T Identity +NM_001406875.1:c.1035A>C NP_001393804.1:p.Gly345= NC_000007.14:5987420:T:G p.(Gly345=) NC_000007.14:5987420:T:G p.(Gly345=) NC_000007.14:5987420:T:G Identity +NM_006231.4:c.1140T>C NP_006222.2:p.Gly380= NC_000012.12:132675483:A:G p.(Gly380=) NC_000012.12:132675483:A:G p.(Gly380=) NC_000012.12:132675483:A:G Identity +NM_000179.3:c.2280G>A NP_000170.1:p.Glu760= NC_000002.12:47800262:G:A p.(Glu760=) NC_000002.12:47800262:G:A p.(Glu760=) NC_000002.12:47800262:G:A Identity +NM_006231.4:c.807T>G NP_006222.2:p.Pro269= NC_000012.12:132676647:A:C p.(Pro269=) NC_000012.12:132676647:A:C p.(Pro269=) NC_000012.12:132676647:A:C Identity +NM_001256849.1:c.1536_1539delinsTCTA NP_001243778.1:p.Cys512_Leu513= NC_000019.10:50407023:CCTG:TCTA p.(Cys512_Leu513=) NC_000019.10:50407023:CCTG:TCTA p.(Cys512=) NC_000019.10:50407023:CCTG:TCTA Identity +NM_001407296.1:c.867A>T NP_001394225.1:p.Ile289= NC_000016.10:23635618:T:A p.(Ile289=) NC_000016.10:23635618:T:A p.(Ile289=) NC_000016.10:23635618:T:A Identity +NM_001407296.1:c.2277A>T NP_001394225.1:p.Ser759= NC_000016.10:23629816:T:A p.(Ser759=) NC_000016.10:23629816:T:A p.(Ser759=) NC_000016.10:23629816:T:A Identity +NM_001142571.2:c.909A>T NP_001136043.1:p.Gly303= NC_000017.11:35101254:T:A p.(Gly303=) NC_000017.11:35101254:T:A p.(Gly303=) NC_000017.11:35101254:T:A Identity +NM_001407296.1:c.3207G>C NP_001394225.1:p.Val1069= NC_000016.10:23607946:C:G p.(Val1069=) NC_000016.10:23607946:C:G p.(Val1069=) NC_000016.10:23607946:C:G Identity +NM_001294332.2:c.156T>C NP_001281261.1:p.Ser52= NC_000005.10:224364:T:C p.(Ser52=) NC_000005.10:224364:T:C p.(Ser52=) NC_000005.10:224364:T:C Identity +NM_001407296.1:c.3222G>C NP_001394225.1:p.Val1074= NC_000016.10:23607931:C:G p.(Val1074=) NC_000016.10:23607931:C:G p.(Val1074=) NC_000016.10:23607931:C:G Identity +NM_001294332.2:c.12C>A NP_001281261.1:p.Val4= NC_000005.10:218366:C:A p.(Val4=) NC_000005.10:218366:C:A p.(Val4=) NC_000005.10:218366:C:A Identity +NM_001256849.1:c.1266C>G NP_001243778.1:p.Gly422= NC_000019.10:50406204:C:G p.(Gly422=) NC_000019.10:50406204:C:G p.(Gly422=) NC_000019.10:50406204:C:G Identity +NM_006231.4:c.834G>T NP_006222.2:p.Thr278= NC_000012.12:132676620:C:A p.(Thr278=) NC_000012.12:132676620:C:A p.(Thr278=) NC_000012.12:132676620:C:A Identity +NM_001294332.2:c.1788G>C NP_001281261.1:p.Val596= NC_000005.10:256356:G:C p.(Val596=) NC_000005.10:256356:G:C p.(Val596=) NC_000005.10:256356:G:C Identity +NM_020630.7:c.2646A>G NP_065681.1:p.Val882= NC_000010.11:43120118:A:G p.(Val882=) NC_000010.11:43120118:A:G p.(Val882=) NC_000010.11:43120118:A:G Identity +NM_001407361.1:c.18_21delinsACTA NP_001394290.1:p.Ala6_Leu7= NC_000001.11:17053998:GAGG:TAGT p.(Ala6_Leu7=) NC_000001.11:17053998:GAGG:TAGT p.(Ala6=) NC_000001.11:17053998:GAGG:TAGT Identity +NM_001355216.2:c.1894C>A NP_001342145.1:p.Arg632= NC_000010.11:43120128:C:A p.(Arg632=) NC_000010.11:43120128:C:A p.(Arg632=) NC_000010.11:43120128:C:A Identity +NM_001355216.2:c.252C>A NP_001342145.1:p.Thr84= NC_000010.11:43106521:C:A p.(Thr84=) NC_000010.11:43106521:C:A p.(Thr84=) NC_000010.11:43106521:C:A Identity +NM_001355216.2:c.114G>C NP_001342145.1:p.Val38= NC_000010.11:43106383:G:C p.(Val38=) NC_000010.11:43106383:G:C p.(Val38=) NC_000010.11:43106383:G:C Identity +NM_001294332.2:c.1491C>T NP_001281261.1:p.Asp497= NC_000005.10:251074:C:T p.(Asp497=) NC_000005.10:251074:C:T p.(Asp497=) NC_000005.10:251074:C:T Identity +NM_000179.3:c.1791A>G NP_000170.1:p.Glu597= NC_000002.12:47799773:A:G p.(Glu597=) NC_000002.12:47799773:A:G p.(Glu597=) NC_000002.12:47799773:A:G Identity +NM_001100913.3:c.1431_1432del NP_001094383.2:p.Val477_Tyr478insTer NC_000014.9:105382490:TGTGT:TGT p.(Tyr478Ter) NC_000014.9:105382490:TGTGT:TGT p.(Tyr478Ter) NC_000014.9:105382493:GT: Analogous +NM_005477.3:c.3391_3399dup NP_005468.1:p.Gly1133_Gly1134insSerSerGly NC_000015.10:73322693:CCCGCTGCTCCC:CCCGCTGCTCCCGCTGCTCCC p.(Ser1131_Gly1133dup) NC_000015.10:73322693:CCCGCTGCTCCC:CCCGCTGCTCCCGCTGCTCCC p.(Ser1131_Gly1133dup) ERR:SPDI Analogous +NM_000059.4:c.5218_5223del NP_000050.3:p.Leu1740_Ser1741del NC_000013.11:32339571:TTTAAGT:T p.(Leu1740_Ser1741del) NC_000013.11:32339571:TTTAAGT:T p.(Leu1740_Ser1741del) NC_000013.11:32339572:TTAAGT: Identity +NM_000492.4:c.2619G>A NP_000483.3:p.Glu873= NC_000007.14:117595057:G:A p.(Glu873=) NC_000007.14:117595057:G:A p.(Glu873=) NC_000007.14:117595057:G:A Identity +NM_000112.4:c.1976del NP_000103.2:p.Phe658_Leu659insTer NC_000005.10:149981564:TTTTT:TTTT p.(Leu659Ter) NC_000005.10:149981564:TTTTT:TTTT p.(Leu659Ter) NC_000005.10:149981568:T: Analogous +NM_000383.4:c.1638A>T NP_000374.1:p.Ter546Cys NC_000021.9:44297726:A:T p.(Ter546CysextTer60) NC_000021.9:44297726:A:T p.(Ter546CysextTer60) NC_000021.9:44297726:A:T Analogous +NM_001164507.2:c.21972G>A NP_001157979.2:p.Lys7324= NC_000002.12:151526235:C:T p.(Lys7324=) NC_000002.12:151526235:C:T p.(Lys7324=) NC_000002.12:151526235:C:T Identity +NM_000199.5:c.1144_1145insAGCGCC NP_000190.1:p.His381_Arg382insGlnArg NC_000017.11:80210816:GG:GGCGCTGG p.(His381_Arg382insGlnArg) NC_000017.11:80210815:C:GGCGCT p.(His381_Arg382insGlnArg) NC_000017.11:80210816:CG:GGCGCT Identity +NM_000520.6:c.1305C>T NP_000511.2:p.Tyr435= NC_000015.10:72346551:G:A p.(Tyr435=) NC_000015.10:72346551:G:A p.(Tyr435=) NC_000015.10:72346551:G:A Identity +NM_000059.4:c.1365A>G NP_000050.3:p.Ser455= NC_000013.11:32332842:A:G p.(Ser455=) NC_000013.11:32332842:A:G p.(Ser455=) NC_000013.11:32332842:A:G Identity +NM_000059.4:c.3807T>C NP_000050.3:p.Val1269= NC_000013.11:32338161:T:C p.(Val1269=) NC_000013.11:32338161:T:C p.(Val1269=) NC_000013.11:32338161:T:C Identity +NM_001366624.2:c.525del NP_001353553.1:p.His174_Trp175insTer NC_000013.11:76996085:GG:G p.(Trp175Ter) NC_000013.11:76996085:GG:G p.(Trp175Ter) NC_000013.11:76996086:G: Analogous +NM_005732.4:c.3846T>C NP_005723.2:p.Tyr1282= NC_000005.10:132642270:T:C p.(Tyr1282=) NC_000005.10:132642270:T:C p.(Tyr1282=) NC_000005.10:132642270:T:C Identity +NM_000179.3:c.2508C>T NP_000170.1:p.Asn836= NC_000002.12:47800490:C:T p.(Asn836=) NC_000002.12:47800490:C:T p.(Asn836=) NC_000002.12:47800490:C:T Identity +NM_001039885.3:c.483C>T NP_001034974.1:p.Ala161= NC_000019.10:46755932:C:T p.(Ala161=) NC_000019.10:46755932:C:T p.(Ala161=) NC_000019.10:46755932:C:T Identity +NM_002855.5:c.1310AGG[9] NP_002846.3:p.Glu444dup NC_000011.10:119664967:CCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC p.(Glu444dup) NC_000011.10:119664990:T:CCTCCTCCTCCTCCTCCTCCTCCTCCT ERR:Parse ERR:Parse Identity +NM_001256850.1:c.10464A>G NP_001243779.1:p.Pro3488= NC_000002.12:178741817:T:C p.(Pro3488=) NC_000002.12:178741817:T:C p.(Pro3488=) NC_000002.12:178741817:T:C Identity +NM_000393.5:c.3891T>C NP_000384.2:p.Asp1297= NC_000002.12:189039305:A:G p.(Asp1297=) NC_000002.12:189039305:A:G p.(Asp1297=) NC_000002.12:189039305:A:G Identity +NM_000124.4:c.1062T>C NP_000115.1:p.Pro354= NC_000010.11:49524367:A:G p.(Pro354=) NC_000010.11:49524367:A:G p.(Pro354=) NC_000010.11:49524367:A:G Identity +NM_207361.6:c.1191C>T NP_997244.4:p.Pro397= NC_000013.11:38688534:C:T p.(Pro397=) NC_000013.11:38688534:C:T p.(Pro397=) NC_000013.11:38688534:C:T Identity +NM_001252020.2:c.3675T>C NP_001238949.1:p.Ser1225= NC_000015.10:31026143:A:G p.(Ser1225=) NC_000015.10:31026143:A:G p.(Ser1225=) NC_000015.10:31026143:A:G Identity +NM_001077186.2:c.1419C>T NP_001070654.1:p.Arg473= NC_000019.10:50249075:C:T p.(Arg473=) NC_000019.10:50249075:C:T p.(Arg473=) NC_000019.10:50249075:C:T Identity +NM_000094.4:c.3753T>C NP_000085.1:p.Cys1251= NC_000003.12:48585945:A:G p.(Cys1251=) NC_000003.12:48585945:A:G p.(Cys1251=) NC_000003.12:48585945:A:G Identity +NM_001318360.2:c.2028A>G NP_001305289.1:p.Glu676= NC_000009.12:108897278:T:C p.(Glu676=) NC_000009.12:108897278:T:C p.(Glu676=) NC_000009.12:108897278:T:C Identity +NM_001243766.2:c.60_63delinsGTGA NP_001230695.2:p.Ser20_Trp21delinsArgTer NC_000001.11:46197758:CCAG:TCAC p.(Ser20_Trp21delinsArgTer) NC_000001.11:46197758:CCAG:TCAC p.(Ser20_Trp21delinsArgTer) NC_000001.11:46197758:CCAG:TCAC Identity +NM_001141945.3:c.807C>T NP_001135417.1:p.Ile269= NC_000010.11:88939507:G:A p.(Ile269=) NC_000010.11:88939507:G:A p.(Ile269=) NC_000010.11:88939507:G:A Identity +NM_000038.6:c.6837A>G NP_000029.2:p.Lys2279= NC_000005.10:112842430:A:G p.(Lys2279=) NC_000005.10:112842430:A:G p.(Lys2279=) NC_000005.10:112842430:A:G Identity +NM_000068.4:c.1308C>T NP_000059.3:p.Pro436= NC_000019.10:13330283:G:A p.(Pro436=) NC_000019.10:13330283:G:A p.(Pro436=) NC_000019.10:13330283:G:A Identity +NM_001378454.1:c.11868T>C NP_001365383.1:p.His3956= NC_000002.12:73600876:T:C p.(His3956=) NC_000002.12:73600876:T:C p.(His3956=) NC_000002.12:73600876:T:C Identity +NM_000455.5:c.1037_1042del NP_000446.1:p.Gly346_Ala347del NC_000019.10:1223099:GGCGCGG:G p.(Gly346_Ala347del) NC_000019.10:1223099:GGCGCGG:G p.(Gly346_Ala347del) NC_000019.10:1223100:GCGCGG: Identity +NM_000088.4:c.4257C>T NP_000079.2:p.Thr1419= NC_000017.11:50185639:G:A p.(Thr1419=) NC_000017.11:50185639:G:A p.(Thr1419=) NC_000017.11:50185639:G:A Identity +NM_001407571.1:c.2814A>C NP_001394500.1:p.Ser938= NC_000017.11:43092503:T:G p.(Ser938=) NC_000017.11:43092503:T:G p.(Ser938=) NC_000017.11:43092503:T:G Identity +NM_004370.6:c.1110A>G NP_004361.3:p.Pro370= NC_000006.12:75184031:T:C p.(Pro370=) NC_000006.12:75184031:T:C p.(Pro370=) NC_000006.12:75184031:T:C Identity +NM_001164617.2:c.1785G>C NP_001158089.1:p.Val595= NC_000023.11:133536150:C:G p.(Val595=) NC_000023.11:133536150:C:G p.(Val595=) NC_000023.11:133536150:C:G Identity +NM_000445.5:c.11691C>T NP_000436.2:p.Thr3897= NC_000008.11:143918210:G:A p.(Thr3897=) NC_000008.11:143918210:G:A p.(Thr3897=) NC_000008.11:143918210:G:A Identity +NM_000426.4:c.9269_9283dup NP_000417.3:p.Thr3094_Lys3095insThrLeuLysLeuThr NC_000006.12:129516246:CCCTGAAGCTCACCA:CCCTGAAGCTCACCACCCTGAAGCTCACCA p.(Thr3094_Lys3095insThrLeuLysLeuThr) NC_000006.12:129516246:CCCTGAAGCTCACCA:CCCTGAAGCTCACCACCCTGAAGCTCACCA p.(Thr3094_Lys3095insThrLeuLysLeuThr) ERR:SPDI Identity +NM_001378454.1:c.12147C>T NP_001365383.1:p.Ile4049= NC_000002.12:73602216:C:T p.(Ile4049=) NC_000002.12:73602216:C:T p.(Ile4049=) NC_000002.12:73602216:C:T Identity +NM_001079812.3:c.1794TCC[7] NP_001073280.1:p.Pro608_Pro611del NC_000005.10:141573996:GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:GGAGGAGGAGGAGGAGGAGGAG p.(Pro608_Pro611del) NC_000005.10:141574028:A:GGAGGAGGAGGAGGAGGAGGA ERR:Parse ERR:Parse Identity +NM_000474.4:c.260_274dup NP_000465.1:p.Ala87_Gly91dup NC_000007.14:19117047:CGCCGCCGCCGCCCGCGCCGCCGCCGCC:CGCCGCCGCCGCCCGCGCCGCCGCCGCCCGCGCCGCCGCCGCC p.(Ala87_Gly91dup) NC_000007.14:19117047:CGCCGCCGCCGCCCGCGCCGCCGCCGCC:CGCCGCCGCCGCCCGCGCCGCCGCCGCCCGCGCCGCCGCCGCC p.(Ala87_Gly91dup) ERR:SPDI Identity +NM_001408457.1:c.741G>A NP_001395386.1:p.Arg247= NC_000017.11:43082569:C:T p.(Arg247=) NC_000017.11:43082569:C:T p.(Arg247=) NC_000017.11:43082569:C:T Identity +NM_000288.4:c.971G>C NP_000279.1:p.Ter324Ser NC_000006.12:136913524:G:C p.(Ter324SerextTer13) NC_000006.12:136913524:G:C p.(Ter324SerextTer13) NC_000006.12:136913524:G:C Analogous +NM_001378454.1:c.10368A>G NP_001365383.1:p.Leu3456= NC_000002.12:73559125:A:G p.(Leu3456=) NC_000002.12:73559125:A:G p.(Leu3456=) NC_000002.12:73559125:A:G Identity +NM_001378454.1:c.6433C>A NP_001365383.1:p.Arg2145= NC_000002.12:73452959:C:A p.(Arg2145=) NC_000002.12:73452959:C:A p.(Arg2145=) NC_000002.12:73452959:C:A Identity +NM_000287.4:c.133_147dup NP_000278.3:p.Glu45_Gly49dup NC_000006.12:42979003:CCCTGCCGGGCTCTCCCCTGC:CCCTGCCGGGCTCTCCCCTGCCGGGCTCTCCCCTGC p.(Glu45_Gly49dup) NC_000006.12:42979003:CCCTGCCGGGCTCTCCCCTGC:CCCTGCCGGGCTCTCCCCTGCCGGGCTCTCCCCTGC p.(Glu45_Gly49dup) ERR:SPDI Identity +NM_000228.3:c.2271AGG[5] NP_000219.2:p.Gly761dup NC_000001.11:209623580:CCTCCTCCTCCTCC:CCTCCTCCTCCTCCTCC p.(Gly761dup) NC_000001.11:209623591:T:CCTCCTCCTCCTCCT ERR:Parse ERR:Parse Identity +NM_001164277.2:c.1185A>G NP_001157749.1:p.Thr395= NC_000011.10:119025014:T:C p.(Thr395=) NC_000011.10:119025014:T:C p.(Thr395=) NC_000011.10:119025014:T:C Identity +NM_015243.3:c.1306del NP_056058.2:p.Leu436_Met437insTer NC_000008.11:99135015:CCC:CC p.(Met437Ter) NC_000008.11:99135015:CCC:CC p.(Met437Ter) NC_000008.11:99135017:C: Analogous +NM_001164507.2:c.6195_6200del NP_001157979.2:p.2063KY[1] NC_000002.12:151656447:TTGTACTTGTA:TTGTA p.(Lys2065_Tyr2066del) NC_000002.12:151656447:TTGTACTTGTA:TTGTA p.(Lys2065_Tyr2066del) NC_000002.12:151656447:TTGTAC: Analogous +NM_000288.4:c.931del NP_000279.1:p.Thr310_Ile311insTer NC_000006.12:136913483:AA:A p.(Ile311Ter) NC_000006.12:136913483:AA:A p.(Ile311Ter) NC_000006.12:136913484:A: Analogous +NM_000441.2:c.2205T>G NP_000432.1:p.Ser735= NC_000007.14:107710168:T:G p.(Ser735=) NC_000007.14:107710168:T:G p.(Ser735=) NC_000007.14:107710168:T:G Identity +NM_001378454.1:c.2817A>G NP_001365383.1:p.Val939= NC_000002.12:73449343:A:G p.(Val939=) NC_000002.12:73449343:A:G p.(Val939=) NC_000002.12:73449343:A:G Identity +NM_138694.4:c.4577_4588del NP_619639.3:p.Cys1526_Thr1529del NC_000006.12:52025221:AAGTTACATTGCAAG:AAG p.(Cys1526_Thr1529del) NC_000006.12:52025221:AAGTTACATTGCAAG:AAG p.(Cys1526_Thr1529del) NC_000006.12:52025221:AAGTTACATTGC: Identity +NM_001164507.2:c.9363T>G NP_001157979.2:p.Pro3121= NC_000002.12:151633704:A:C p.(Pro3121=) NC_000002.12:151633704:A:C p.(Pro3121=) NC_000002.12:151633704:A:C Identity +NM_000288.4:c.871_874del NP_000279.1:p.Cys290_Gly291insTer NC_000006.12:136898207:TGGTT:T p.(Gly291Ter) NC_000006.12:136898207:TGGTT:T p.(Gly291Ter) NC_000006.12:136898208:GGTT: Analogous +NM_001378454.1:c.60_61insCAG NP_001365383.1:p.Glu20_Glu21insGln NC_000002.12:73385926:AG:AGCAG p.(Glu20_Glu21insGln) NC_000002.12:73385927:G:CAG p.(Glu20_Glu21insGln) NC_000002.12:73385928:GG:CAG Identity +NM_000520.6:c.1214_1219del NP_000511.2:p.403_404EL[1] NC_000015.10:72346637:CCAGTTCCAG:CCAG p.(Glu405_Leu406del) NC_000015.10:72346637:CCAGTTCCAG:CCAG p.(Glu405_Leu406del) NC_000015.10:72346637:CCAGTT: Analogous +NM_000286.3:c.69_76dup NP_000277.1:p.Gln26delinsArgTer NC_000017.11:35577945:GTGCTACC:GTGCTACCGTGCTACC p.(Gln26ArgfsTer2) NC_000017.11:35577945:GTGCTACC:GTGCTACCGTGCTACC p.(Gln26ArgfsTer2) ERR:SPDI Analogous +NM_017890.5:c.12039_12059dup NP_060360.3:p.Asn4014_Gly4020dup NC_000008.11:99875635:AAATAAAGCCCTGAGGAAAGG:AAATAAAGCCCTGAGGAAAGGAAATAAAGCCCTGAGGAAAGG p.(Asn4014_Gly4020dup) NC_000008.11:99875635:AAATAAAGCCCTGAGGAAAGG:AAATAAAGCCCTGAGGAAAGGAAATAAAGCCCTGAGGAAAGG p.(Asn4014_Gly4020dup) ERR:SPDI Identity +NM_000391.4:c.1547_1548del NP_000382.3:p.Leu515_Phe516insTer NC_000011.10:6614868:AAA:A p.(Phe516Ter) NC_000011.10:6614868:AAA:A p.(Phe516Ter) NC_000011.10:6614868:AA: Analogous +NM_000170.3:c.160_171del NP_000161.2:p.Glu54_Leu57del NC_000009.12:6645328:CAGAAGGCGCTCCAG:CAG p.(Glu54_Leu57del) NC_000009.12:6645328:CAGAAGGCGCTCCAG:CAG p.(Glu54_Leu57del) NC_000009.12:6645328:CAGAAGGCGCTC: Identity +NM_001302554.2:c.937_942dup NP_001289483.1:p.Met313_Ala314dup NC_000012.12:120738833:CATGGCC:CATGGCCATGGCC p.(Met313_Ala314dup) NC_000012.12:120738833:CATGGCC:CATGGCCATGGCC p.(Met313_Ala314dup) ERR:SPDI Identity +NM_000426.4:c.4660_4668del NP_000417.3:p.Gly1554_Lys1556del NC_000006.12:129353298:GGGAAGGAAG:G p.(Gly1554_Lys1556del) NC_000006.12:129353298:GGGAAGGAAG:G p.(Gly1554_Lys1556del) NC_000006.12:129353299:GGAAGGAAG: Identity +NM_000182.5:c.646_657dup NP_000173.2:p.Gly216_Asp219dup NC_000002.12:26230210:GTCAACCAGTCC:GTCAACCAGTCCGTCAACCAGTCC p.(Gly216_Asp219dup) NC_000002.12:26230210:GTCAACCAGTCC:GTCAACCAGTCCGTCAACCAGTCC p.(Gly216_Asp219dup) ERR:SPDI Identity +NM_000199.5:c.48_50dup NP_000190.1:p.Leu17dup NC_000017.11:80220263:AGC:AGCAGC p.(Leu17dup) NC_000017.11:80220263:AGC:AGCAGC p.(Leu17dup) ERR:SPDI Identity +NM_000098.3:c.930C>T NP_000089.1:p.Gly310= NC_000001.11:53210603:C:T p.(Gly310=) NC_000001.11:53210603:C:T p.(Gly310=) NC_000001.11:53210603:C:T Identity +NM_000057.4:c.129_130insTAT NP_000048.1:p.Ser43_Asp44insTyr NC_000015.10:90749397::TAT p.(Ser43_Asp44insTyr) NC_000015.10:90749396:A:TAT p.(Ser43_Asp44insTyr) NC_000015.10:90749397:AG:TAT Identity +NM_001134793.2:c.536_544del NP_001128265.1:p.Ser179_Ala181del NC_000011.10:125899902:TCTCCAGCTT:T p.(Ser179_Ala181del) NC_000011.10:125899902:TCTCCAGCTT:T p.(Ser179_Ala181del) NC_000011.10:125899903:CTCCAGCTT: Identity +NM_006019.4:c.609_620del NP_006010.2:p.Gln203_Glu206del NC_000011.10:68043466:GCTGGAGCAGCCGCTGGAGCA:GCTGGAGCA p.(Gln203_Glu206del) NC_000011.10:68043466:GCTGGAGCAGCCGCTGGAGCA:GCTGGAGCA p.(Gln203_Glu206del) NC_000011.10:68043475:GCCGCTGGAGCA: Identity +NM_000055.4:c.570T>C NP_000046.1:p.Ala190= NC_000003.12:165830463:A:G p.(Ala190=) NC_000003.12:165830463:A:G p.(Ala190=) NC_000003.12:165830463:A:G Identity +NM_001318360.2:c.3016_3018dup NP_001305289.1:p.Tyr1006dup NC_000009.12:108880151:ATAAT:ATAATAAT p.(Tyr1006dup) NC_000009.12:108880151:ATAAT:ATAATAAT p.(Tyr1006dup) ERR:SPDI Identity +NM_001366624.2:c.33_50dup NP_001353553.1:p.Glu12_Ala17dup NC_000013.11:76992124:GGGCGCCGAGATGCGGCGGGGCGC:GGGCGCCGAGATGCGGCGGGGCGCCGAGATGCGGCGGGGCGC p.(Glu12_Ala17dup) NC_000013.11:76992124:GGGCGCCGAGATGCGGCGGGGCGC:GGGCGCCGAGATGCGGCGGGGCGCCGAGATGCGGCGGGGCGC p.(Glu12_Ala17dup) ERR:SPDI Identity +NM_001369365.1:c.5485del NP_001356294.1:p.Ala1828_Leu1829insTer NC_000011.10:77205610:CCC:CC p.(Leu1829Ter) NC_000011.10:77205610:CCC:CC p.(Leu1829Ter) NC_000011.10:77205612:C: Analogous +NM_001374425.1:c.1038A>G NP_001361354.1:p.Ter346Trp NC_000001.11:2405765:T:C p.(Ter346TrpextTer21) NC_000001.11:2405765:T:C p.(Ter346TrpextTer21) NC_000001.11:2405765:T:C Analogous +NM_001378454.1:c.1695T>C NP_001365383.1:p.Thr565= NC_000002.12:73448221:T:C p.(Thr565=) NC_000002.12:73448221:T:C p.(Thr565=) NC_000002.12:73448221:T:C Identity +NM_138694.4:c.10893_10894del NP_619639.3:p.Tyr3631_Arg3632delinsTer NC_000006.12:51659231:TATA:TA p.(Tyr3631Ter) NC_000006.12:51659231:TATA:TA p.(Tyr3631Ter) NC_000006.12:51659231:TA: Analogous +NM_006493.4:c.917del NP_006484.2:p.Leu305_Leu306insTer NC_000013.11:77000807:TT:T p.(Leu306Ter) NC_000013.11:77000807:TT:T p.(Leu306Ter) NC_000013.11:77000808:T: Analogous +NM_000228.3:c.1065_1066del NP_000219.2:p.Cys355_Glu356delinsTer NC_000001.11:209629802:CACA:CA p.(Cys355Ter) NC_000001.11:209629802:CACA:CA p.(Cys355Ter) NC_000001.11:209629802:CA: Analogous +NM_000303.3:c.739T>C NP_000294.1:p.Ter247Gln NC_000016.10:8847822:T:C p.(Ter247GlnextTer15) NC_000016.10:8847822:T:C p.(Ter247GlnextTer15) NC_000016.10:8847822:T:C Analogous +NM_014141.6:c.1101T>C NP_054860.1:p.Ser367= NC_000007.14:147132261:T:C p.(Ser367=) NC_000007.14:147132261:T:C p.(Ser367=) NC_000007.14:147132261:T:C Identity +NM_000264.5:c.3981T>C NP_000255.2:p.Thr1327= NC_000009.12:95447274:A:G p.(Thr1327=) NC_000009.12:95447274:A:G p.(Thr1327=) NC_000009.12:95447274:A:G Identity +NM_000508.5:c.780G>A NP_000499.1:p.Glu260= NC_000004.12:154586648:C:T p.(Glu260=) NC_000004.12:154586648:C:T p.(Glu260=) NC_000004.12:154586648:C:T Identity +NM_017514.5:c.3513G>A NP_059984.3:p.Pro1171= NC_000023.11:154467615:G:A p.(Pro1171=) NC_000023.11:154467615:G:A p.(Pro1171=) NC_000023.11:154467615:G:A Identity +NM_001164317.2:c.972C>T NP_001157789.1:p.Thr324= NC_000003.12:58096205:C:T p.(Thr324=) NC_000003.12:58096205:C:T p.(Thr324=) NC_000003.12:58096205:C:T Identity +NM_000094.4:c.2544C>T NP_000085.1:p.Val848= NC_000003.12:48588684:G:A p.(Val848=) NC_000003.12:48588684:G:A p.(Val848=) NC_000003.12:48588684:G:A Identity +NM_031407.7:c.12903A>G NP_113584.3:p.Thr4301= NC_000023.11:53534125:T:C p.(Thr4301=) NC_000023.11:53534125:T:C p.(Thr4301=) NC_000023.11:53534125:T:C Identity +NM_014244.5:c.2865C>T NP_055059.2:p.His955= NC_000005.10:179125065:G:A p.(His955=) NC_000005.10:179125065:G:A p.(His955=) NC_000005.10:179125065:G:A Identity +NM_001079.4:c.1389G>A NP_001070.2:p.Ala463= NC_000002.12:97737571:G:A p.(Ala463=) NC_000002.12:97737571:G:A p.(Ala463=) NC_000002.12:97737571:G:A Identity +NM_006121.4:c.1002T>C NP_006112.3:p.Asn334= NC_000012.12:52677441:A:G p.(Asn334=) NC_000012.12:52677441:A:G p.(Asn334=) NC_000012.12:52677441:A:G Identity +NM_002272.4:c.801C>T NP_002263.3:p.Asp267= NC_000012.12:52809415:G:A p.(Asp267=) NC_000012.12:52809415:G:A p.(Asp267=) NC_000012.12:52809415:G:A Identity +NM_016327.3:c.792C>T NP_057411.1:p.Ser264= NC_000022.11:24520386:C:T p.(Ser264=) NC_000022.11:24520386:C:T p.(Ser264=) NC_000022.11:24520386:C:T Identity +NM_001174146.2:c.1212C>T NP_001167617.1:p.Phe404= NC_000009.12:126696441:C:T p.(Phe404=) NC_000009.12:126696441:C:T p.(Phe404=) NC_000009.12:126696441:C:T Identity +NM_017617.5:c.3900C>T NP_060087.3:p.Thr1300= NC_000009.12:136506716:G:A p.(Thr1300=) NC_000009.12:136506716:G:A p.(Thr1300=) NC_000009.12:136506716:G:A Identity +NM_004370.6:c.342A>G NP_004361.3:p.Thr114= NC_000006.12:75191752:T:C p.(Thr114=) NC_000006.12:75191752:T:C p.(Thr114=) NC_000006.12:75191752:T:C Identity +NM_004370.6:c.4290T>C NP_004361.3:p.Phe1430= NC_000006.12:75147801:A:G p.(Phe1430=) NC_000006.12:75147801:A:G p.(Phe1430=) NC_000006.12:75147801:A:G Identity +NM_000094.4:c.291T>C NP_000085.1:p.Leu97= NC_000003.12:48593671:A:G p.(Leu97=) NC_000003.12:48593671:A:G p.(Leu97=) NC_000003.12:48593671:A:G Identity +NM_001308258.2:c.2067T>C NP_001295187.1:p.Asn689= NC_000003.12:149163921:T:C p.(Asn689=) NC_000003.12:149163921:T:C p.(Asn689=) NC_000003.12:149163921:T:C Identity +NM_001352253.3:c.753G>A NP_001339182.1:p.Pro251= NC_000013.11:110677005:C:T p.(Pro251=) NC_000013.11:110677005:C:T p.(Pro251=) NC_000013.11:110677005:C:T Identity +NM_005045.4:c.4740G>A NP_005036.2:p.Pro1580= NC_000007.14:103566607:C:T p.(Pro1580=) NC_000007.14:103566607:C:T p.(Pro1580=) NC_000007.14:103566607:C:T Identity +NM_004370.6:c.5373A>T NP_004361.3:p.Thr1791= NC_000006.12:75137457:T:A p.(Thr1791=) NC_000006.12:75137457:T:A p.(Thr1791=) NC_000006.12:75137457:T:A Identity +NM_001365276.2:c.2631C>T NP_001352205.1:p.Ala877= NC_000006.12:32088932:G:A p.(Ala877=) NC_000006.12:32088932:G:A p.(Ala877=) NC_000006.12:32088932:G:A Identity +NM_001366712.1:c.220GGC[5] NP_001353641.1:p.Gly79_Gly81del NC_000013.11:71866526:GCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCG p.(Gly79_Gly81del) NC_000013.11:71866549:C:GCCGCCGCCGCCGCC ERR:Parse ERR:Parse Identity +NM_004370.6:c.6141T>C NP_004361.3:p.His2047= NC_000006.12:75130159:A:G p.(His2047=) NC_000006.12:75130159:A:G p.(His2047=) NC_000006.12:75130159:A:G Identity +NM_000528.4:c.9C>T NP_000519.2:p.Ala3= NC_000019.10:12666692:G:A p.(Ala3=) NC_000019.10:12666692:G:A p.(Ala3=) NC_000019.10:12666692:G:A Identity +NM_020435.4:c.84C>A NP_065168.2:p.Leu28= NC_000001.11:228157841:C:A p.(Leu28=) NC_000001.11:228157841:C:A p.(Leu28=) NC_000001.11:228157841:C:A Identity +NM_004370.6:c.4284A>G NP_004361.3:p.Gln1428= NC_000006.12:75148360:T:C p.(Gln1428=) NC_000006.12:75148360:T:C p.(Gln1428=) NC_000006.12:75148360:T:C Identity +NM_001099952.4:c.7887A>G NP_001093422.2:p.Glu2629= NC_000003.12:4836775:A:G p.(Glu2629=) NC_000003.12:4836775:A:G p.(Glu2629=) NC_000003.12:4836775:A:G Identity +NM_001099274.3:c.684C>T NP_001092744.1:p.His228= NC_000014.9:24240795:G:A p.(His228=) NC_000014.9:24240795:G:A p.(His228=) NC_000014.9:24240795:G:A Identity +NM_001202504.1:c.1833C>T NP_001189433.1:p.Asp611= NC_000018.10:79717655:C:T p.(Asp611=) NC_000018.10:79717655:C:T p.(Asp611=) NC_000018.10:79717655:C:T Identity +NM_004370.6:c.1344C>T NP_004361.3:p.Ser448= NC_000006.12:75183596:G:A p.(Ser448=) NC_000006.12:75183596:G:A p.(Ser448=) NC_000006.12:75183596:G:A Identity +NM_004370.6:c.6558T>A NP_004361.3:p.Ala2186= NC_000006.12:75125175:A:T p.(Ala2186=) NC_000006.12:75125175:A:T p.(Ala2186=) NC_000006.12:75125175:A:T Identity +NM_004370.6:c.7869C>T NP_004361.3:p.Asn2623= NC_000006.12:75113284:G:A p.(Asn2623=) NC_000006.12:75113284:G:A p.(Asn2623=) NC_000006.12:75113284:G:A Identity +NM_000540.3:c.9441C>T NP_000531.2:p.Ile3147= NC_000019.10:38512451:C:T p.(Ile3147=) NC_000019.10:38512451:C:T p.(Ile3147=) NC_000019.10:38512451:C:T Identity +NM_001033053.3:c.342C>T NP_001028225.1:p.Thr114= NC_000017.11:5582775:G:A p.(Thr114=) NC_000017.11:5582775:G:A p.(Thr114=) NC_000017.11:5582775:G:A Identity +NM_004370.6:c.4221A>G NP_004361.3:p.Pro1407= NC_000006.12:75148423:T:C p.(Pro1407=) NC_000006.12:75148423:T:C p.(Pro1407=) NC_000006.12:75148423:T:C Identity +NM_001204087.2:c.200AGC[15] NP_001191016.1:p.Gln80dup NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG p.(Gln80dup) NC_000001.11:154869764:T:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_001261826.3:c.1980G>A NP_001248755.1:p.Ala660= NC_000019.10:2116625:C:T p.(Ala660=) NC_000019.10:2116625:C:T p.(Ala660=) NC_000019.10:2116625:C:T Identity +NM_015243.3:c.18A>T NP_056058.2:p.Val6= NC_000008.11:99013805:A:T p.(Val6=) NC_000008.11:99013805:A:T p.(Val6=) NC_000008.11:99013805:A:T Identity +NM_004370.6:c.8365_8366insCCTCCA NP_004361.3:p.Gly2789delinsAlaSerSer NC_000006.12:75102646::TGGAGG p.(Gly2789delinsAlaSerSer) NC_000006.12:75102645:C:TGGAGG p.(Gly2789delinsAlaSerSer) NC_000006.12:75102646:CC:TGGAGG Identity +NM_004370.6:c.7272T>C NP_004361.3:p.Asn2424= NC_000006.12:75119124:A:G p.(Asn2424=) NC_000006.12:75119124:A:G p.(Asn2424=) NC_000006.12:75119124:A:G Identity +NM_000421.5:c.1506AAGCTCCGGCGGCGG[3] NP_000412.4:p.Gly512_Tyr513insSerSerGlyGlyGly NC_000017.11:40818999:CCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCC:CCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCC p.(Ser508_Gly512dup) NC_000017.11:40819028:T:CCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGGAGCTT ERR:Parse ERR:Parse Analogous +NM_004370.6:c.1557T>A NP_004361.3:p.Thr519= NC_000006.12:75183383:A:T p.(Thr519=) NC_000006.12:75183383:A:T p.(Thr519=) NC_000006.12:75183383:A:T Identity +NM_001256071.3:c.11571C>T NP_001243000.2:p.Thr3857= NC_000017.11:80363610:C:T p.(Thr3857=) NC_000017.11:80363610:C:T p.(Thr3857=) NC_000017.11:80363610:C:T Identity +NM_001424113.1:c.4404G>A NP_001411042.1:p.Gly1468= NC_000006.12:75147687:C:T p.(Gly1468=) NC_000006.12:75147687:C:T p.(Gly1468=) NC_000006.12:75147687:C:T Identity +NM_001367624.2:c.6486C>T NP_001354553.1:p.Pro2162= NC_000016.10:88433955:C:T p.(Pro2162=) NC_000016.10:88433955:C:T p.(Pro2162=) NC_000016.10:88433955:C:T Identity +NM_001375602.1:c.36G>A NP_001362531.1:p.Thr12= NC_000002.12:127418481:G:A p.(Thr12=) NC_000002.12:127418481:G:A p.(Thr12=) NC_000002.12:127418481:G:A Identity +NM_001324417.2:c.1569C>T NP_001311346.1:p.Ala523= NC_000007.14:88150985:C:T p.(Ala523=) NC_000007.14:88150985:C:T p.(Ala523=) NC_000007.14:88150985:C:T Identity +NM_001424113.1:c.5061A>T NP_001411042.1:p.Ile1687= NC_000006.12:75138857:T:A p.(Ile1687=) NC_000006.12:75138857:T:A p.(Ile1687=) NC_000006.12:75138857:T:A Identity +NM_001424113.1:c.2001G>A NP_001411042.1:p.Lys667= NC_000006.12:75181101:C:T p.(Lys667=) NC_000006.12:75181101:C:T p.(Lys667=) NC_000006.12:75181101:C:T Identity +NM_001424113.1:c.2400T>C NP_001411042.1:p.Pro800= NC_000006.12:75177699:A:G p.(Pro800=) NC_000006.12:75177699:A:G p.(Pro800=) NC_000006.12:75177699:A:G Identity +NM_001351508.2:c.1080A>G NP_001338437.1:p.Gln360= NC_000002.12:70212796:T:C p.(Gln360=) NC_000002.12:70212796:T:C p.(Gln360=) NC_000002.12:70212796:T:C Identity +NM_001145770.3:c.768G>A NP_001139242.1:p.Glu256= NC_000016.10:57654132:G:A p.(Glu256=) NC_000016.10:57654132:G:A p.(Glu256=) NC_000016.10:57654132:G:A Identity +NM_001363711.2:c.4080G>A NP_001350640.1:p.Lys1360= NC_000015.10:45095827:C:T p.(Lys1360=) NC_000015.10:45095827:C:T p.(Lys1360=) NC_000015.10:45095827:C:T Identity +NM_018303.6:c.1116A>G NP_060773.3:p.Gln372= NC_000006.12:592544:T:C p.(Gln372=) NC_000006.12:592544:T:C p.(Gln372=) NC_000006.12:592544:T:C Identity +NM_000296.4:c.849T>C NP_000287.4:p.Pro283= NC_000016.10:2118142:A:G p.(Pro283=) NC_000016.10:2118142:A:G p.(Pro283=) NC_000016.10:2118142:A:G Identity +NM_015726.4:c.1635G>C NP_056541.2:p.Leu545= NC_000001.11:160218365:C:G p.(Leu545=) NC_000001.11:160218365:C:G p.(Leu545=) NC_000001.11:160218365:C:G Identity +NM_004646.4:c.3312_3315delinsATCA NP_004637.1:p.Gly1104_Ser1105= NC_000019.10:35831367:CGAC:TGAT p.(Gly1104_Ser1105=) NC_000019.10:35831367:CGAC:TGAT p.(Gly1104=) NC_000019.10:35831367:CGAC:TGAT Identity +NM_006662.3:c.5937C>T NP_006653.2:p.Val1979= NC_000016.10:30729381:C:T p.(Val1979=) NC_000016.10:30729381:C:T p.(Val1979=) NC_000016.10:30729381:C:T Identity +NM_001007026.2:c.3193_3198del NP_001007027.1:p.Gln1065_Gln1066del NC_000012.12:6939155:CAGCAA: p.(Gln1065_Gln1066del) NC_000012.12:6939155:CAGCAA: p.(Gln1065_Gln1066del) NC_000012.12:6939155:CAGCAA: Identity +NM_001003652.4:c.649_651dup NP_001003652.1:p.Ile217_Pro218insIle NC_000018.10:47868326:AATA:AATAATA p.(Ile217dup) NC_000018.10:47868326:AATA:AATAATA p.(Ile217dup) ERR:SPDI Analogous +NM_000518.5:c.189T>C NP_000509.1:p.Ala63= NC_000011.10:5226702:A:G p.(Ala63=) NC_000011.10:5226702:A:G p.(Ala63=) NC_000011.10:5226702:A:G Identity +NM_001131010.4:c.1875C>T NP_001124482.1:p.Pro625= NC_000003.12:18349586:G:A p.(Pro625=) NC_000003.12:18349586:G:A p.(Pro625=) NC_000003.12:18349586:G:A Identity +NM_000158.4:c.1206G>T NP_000149.4:p.Thr402= NC_000003.12:81591066:C:A p.(Thr402=) NC_000003.12:81591066:C:A p.(Thr402=) NC_000003.12:81591066:C:A Identity +NM_001388492.1:c.54GCA[17] NP_001375421.1:p.Gln37_Gln38del NC_000004.12:3074876:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA p.(Gln37_Gln38del) NC_000004.12:3074878:G:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ERR:Parse ERR:Parse Identity +NM_002253.4:c.66G>A NP_002244.1:p.Val22= NC_000004.12:55125227:C:T p.(Val22=) NC_000004.12:55125227:C:T p.(Val22=) NC_000004.12:55125227:C:T Identity +NM_014208.3:c.3660_3668del NP_055023.2:p.1181SDS[16] NC_000004.12:87616313:GACAGCAGCGACAGCAG:GACAGCAG p.(Ser1229_Ser1231del) NC_000004.12:87616313:GACAGCAGCGACAGCAG:GACAGCAG p.(Ser1229_Ser1231del) NC_000004.12:87616321:CGACAGCAG: Analogous +NM_001142552.2:c.273G>A NP_001136024.1:p.Pro91= NC_000004.12:154491082:C:T p.(Pro91=) NC_000004.12:154491082:C:T p.(Pro91=) NC_000004.12:154491082:C:T Identity +NM_001318163.1:c.405C>T NP_001305092.1:p.Ser135= NC_000007.14:105506266:G:A p.(Ser135=) NC_000007.14:105506266:G:A p.(Ser135=) NC_000007.14:105506266:G:A Identity +NM_001354609.2:c.1938G>A NP_001341538.1:p.Leu646= NC_000007.14:140749340:C:T p.(Leu646=) NC_000007.14:140749340:C:T p.(Leu646=) NC_000007.14:140749340:C:T Identity +NM_170606.3:c.348G>A NP_733751.2:p.Ser116= NC_000007.14:152330641:C:T p.(Ser116=) NC_000007.14:152330641:C:T p.(Ser116=) NC_000007.14:152330641:C:T Identity +NM_001256267.2:c.2164C>A NP_001243196.1:p.Arg722= NC_000010.11:68174255:C:A p.(Arg722=) NC_000010.11:68174255:C:A p.(Arg722=) NC_000010.11:68174255:C:A Identity +NM_001354346.2:c.1494C>T NP_001341275.1:p.His498= NC_000012.12:7081197:G:A p.(His498=) NC_000012.12:7081197:G:A p.(His498=) NC_000012.12:7081197:G:A Identity +NM_001174116.3:c.1185C>T NP_001167587.1:p.Asn395= NC_000015.10:51538372:G:A p.(Asn395=) NC_000015.10:51538372:G:A p.(Asn395=) NC_000015.10:51538372:G:A Identity +NM_017780.4:c.5931_5933dup NP_060250.2:p.Val1978_Ser1979insVal NC_000008.11:60852531:GTGGT:GTGGTGGT p.(Val1978dup) NC_000008.11:60852531:GTGGT:GTGGTGGT p.(Val1978dup) ERR:SPDI Analogous +NM_001300743.3:c.2397T>A NP_001287672.2:p.Leu799= NC_000016.10:19699530:T:A p.(Leu799=) NC_000016.10:19699530:T:A p.(Leu799=) NC_000016.10:19699530:T:A Identity +NM_001184824.4:c.1713G>A NP_001171753.1:p.Pro571= NC_000016.10:68356751:G:A p.(Pro571=) NC_000016.10:68356751:G:A p.(Pro571=) NC_000016.10:68356751:G:A Identity +NM_001031804.3:c.702_710del NP_001026974.1:p.Gly236_Gly238del NC_000016.10:79599192:CCGCCGCCTCCGCCGCC:CCGCCGCC p.(Gly236_Gly238del) NC_000016.10:79599192:CCGCCGCCTCCGCCGCC:CCGCCGCC p.(Gly236_Gly238del) NC_000016.10:79599192:CCGCCGCCT: Identity +NM_001194.4:c.1524C>T NP_001185.3:p.Tyr508= NC_000019.10:610344:C:T p.(Tyr508=) NC_000019.10:610344:C:T p.(Tyr508=) NC_000019.10:610344:C:T Identity +NM_001127396.3:c.1407G>A NP_001120868.1:p.Leu469= NC_000019.10:7646307:G:A p.(Leu469=) NC_000019.10:7646307:G:A p.(Leu469=) NC_000019.10:7646307:G:A Identity +NM_001385197.1:c.2115T>C NP_001372126.1:p.His705= NC_000019.10:10359234:A:G p.(His705=) NC_000019.10:10359234:A:G p.(His705=) NC_000019.10:10359234:A:G Identity +NM_001001890.3:c.480C>T NP_001001890.1:p.Ala160= NC_000021.9:34859525:G:A p.(Ala160=) NC_000021.9:34859525:G:A p.(Ala160=) NC_000021.9:34859525:G:A Identity +NM_001308122.2:c.486C>T NP_001295051.1:p.Asp162= NC_000005.10:132378397:C:T p.(Asp162=) NC_000005.10:132378397:C:T p.(Asp162=) NC_000005.10:132378397:C:T Identity +NM_000492.4:c.1731C>T NP_000483.3:p.Tyr577= NC_000007.14:117590403:C:T p.(Tyr577=) NC_000007.14:117590403:C:T p.(Tyr577=) NC_000007.14:117590403:C:T Identity +NM_000162.5:c.618G>A NP_000153.1:p.Thr206= NC_000007.14:44149820:C:T p.(Thr206=) NC_000007.14:44149820:C:T p.(Thr206=) NC_000007.14:44149820:C:T Identity +NM_000162.5:c.666C>T NP_000153.1:p.Val222= NC_000007.14:44149772:G:A p.(Val222=) NC_000007.14:44149772:G:A p.(Val222=) NC_000007.14:44149772:G:A Identity +NM_000162.5:c.954G>C NP_000153.1:p.Gly318= NC_000007.14:44146527:C:G p.(Gly318=) NC_000007.14:44146527:C:G p.(Gly318=) NC_000007.14:44146527:C:G Identity +NM_000260.4:c.4074C>T NP_000251.3:p.Ser1358= NC_000011.10:77192199:C:T p.(Ser1358=) NC_000011.10:77192199:C:T p.(Ser1358=) NC_000011.10:77192199:C:T Identity +NM_000260.4:c.687C>T NP_000251.3:p.Gly229= NC_000011.10:77156955:C:T p.(Gly229=) NC_000011.10:77156955:C:T p.(Gly229=) NC_000011.10:77156955:C:T Identity +NM_001077186.2:c.192G>T NP_001070654.1:p.Gly64= NC_000019.10:50210556:G:T p.(Gly64=) NC_000019.10:50210556:G:T p.(Gly64=) NC_000019.10:50210556:G:T Identity +NM_001308093.3:c.825C>T NP_001295022.1:p.Cys275= NC_000008.11:11750148:C:T p.(Cys275=) NC_000008.11:11750148:C:T p.(Cys275=) NC_000008.11:11750148:C:T Identity +NM_001369786.1:c.24A>G NP_001356715.1:p.Val8= NC_000012.12:25245360:T:C p.(Val8=) NC_000012.12:25245360:T:C p.(Val8=) NC_000012.12:25245360:T:C Identity +NM_016239.4:c.7908C>T NP_057323.3:p.Ala2636= NC_000017.11:18152125:C:T p.(Ala2636=) NC_000017.11:18152125:C:T p.(Ala2636=) NC_000017.11:18152125:C:T Identity +NM_030662.4:c.1020C>T NP_109587.1:p.Pro340= NC_000019.10:4095413:G:A p.(Pro340=) NC_000019.10:4095413:G:A p.(Pro340=) NC_000019.10:4095413:G:A Identity +NM_001128175.2:c.51G>A NP_001121647.1:p.Gln17= NC_000018.10:34756026:G:A p.(Gln17=) NC_000018.10:34756026:G:A p.(Gln17=) NC_000018.10:34756026:G:A Identity +NM_001256850.1:c.84213C>T NP_001243779.1:p.Asn28071= NC_000002.12:178553974:G:A p.(Asn28071=) NC_000002.12:178553974:G:A p.(Asn28071=) NC_000002.12:178553974:G:A Identity +NM_001256850.1:c.86502C>T NP_001243779.1:p.Asp28834= NC_000002.12:178551105:G:A p.(Asp28834=) NC_000002.12:178551105:G:A p.(Asp28834=) NC_000002.12:178551105:G:A Identity +NM_000335.5:c.1653G>A NP_000326.2:p.Ala551= NC_000003.12:38603948:C:T p.(Ala551=) NC_000003.12:38603948:C:T p.(Ala551=) NC_000003.12:38603948:C:T Identity +NM_000059.4:c.3264T>C NP_000050.3:p.Pro1088= NC_000013.11:32337618:T:C p.(Pro1088=) NC_000013.11:32337618:T:C p.(Pro1088=) NC_000013.11:32337618:T:C Identity +NM_000059.4:c.4068G>A NP_000050.3:p.Leu1356= NC_000013.11:32338422:G:A p.(Leu1356=) NC_000013.11:32338422:G:A p.(Leu1356=) NC_000013.11:32338422:G:A Identity +NM_001198557.2:c.222T>C NP_001185486.1:p.Ser74= NC_000005.10:126811810:T:C p.(Ser74=) NC_000005.10:126811810:T:C p.(Ser74=) NC_000005.10:126811810:T:C Identity +NM_015243.3:c.1563G>A NP_056058.2:p.Lys521= NC_000008.11:99135732:G:A p.(Lys521=) NC_000008.11:99135732:G:A p.(Lys521=) NC_000008.11:99135732:G:A Identity +NM_000535.7:c.736_741delinsTGTGTGTGAAG NP_000526.2:p.Pro246_Pro247delinsCysValTer NC_000007.14:5997387:AGGGGG:CTTCACACACA p.(Pro246CysfsTer3) NC_000007.14:5997387:AGGGGG:CTTCACACACA p.(Pro246CysfsTer3) NC_000007.14:5997387:AGGGGG:CTTCACACACA Analogous +NM_000719.7:c.3780C>A NP_000710.5:p.Gly1260= NC_000012.12:2611964:C:A p.(Gly1260=) NC_000012.12:2611964:C:A p.(Gly1260=) NC_000012.12:2611964:C:A Identity +NM_001135659.3:c.4053A>G NP_001129131.1:p.Ala1351= NC_000002.12:50053465:T:C p.(Ala1351=) NC_000002.12:50053465:T:C p.(Ala1351=) NC_000002.12:50053465:T:C Identity +NM_001165963.4:c.5418G>A NP_001159435.1:p.Glu1806= NC_000002.12:165991856:C:T p.(Glu1806=) NC_000002.12:165991856:C:T p.(Glu1806=) NC_000002.12:165991856:C:T Identity +NM_001164507.2:c.154CTGGCACAGCCAGCA[1] NP_001157979.2:p.52LAQPA[1] NC_000002.12:151727801:TGCTGGCTGTGCCAGTGCTGGCTGTGCCAG:TGCTGGCTGTGCCAG p.(Leu57_Ala61del) NC_000002.12:151727830:G:TGCTGGCTGTGCCAG ERR:Parse ERR:Parse Analogous +NM_001145847.2:c.1950C>T NP_001139319.1:p.Asn650= NC_000004.12:15991227:G:A p.(Asn650=) NC_000004.12:15991227:G:A p.(Asn650=) NC_000004.12:15991227:G:A Identity +NM_033087.4:c.760T>C NP_149078.1:p.Leu254= NC_000009.12:99218424:A:G p.(Leu254=) NC_000009.12:99218424:A:G p.(Leu254=) NC_000009.12:99218424:A:G Identity +NM_001256850.1:c.98442C>T NP_001243779.1:p.Arg32814= NC_000002.12:178533249:G:A p.(Arg32814=) NC_000002.12:178533249:G:A p.(Arg32814=) NC_000002.12:178533249:G:A Identity +NM_138694.4:c.633G>A NP_619639.3:p.Gly211= NC_000006.12:52071039:C:T p.(Gly211=) NC_000006.12:52071039:C:T p.(Gly211=) NC_000006.12:52071039:C:T Identity +NM_001079821.3:c.1389C>T NP_001073289.2:p.His463= NC_000001.11:247424837:C:T p.(His463=) NC_000001.11:247424837:C:T p.(His463=) NC_000001.11:247424837:C:T Identity +NM_001123066.4:c.54C>T NP_001116538.2:p.Tyr18= NC_000017.11:45962390:C:T p.(Tyr18=) NC_000017.11:45962390:C:T p.(Tyr18=) NC_000017.11:45962390:C:T Identity +NM_007248.5:c.838_855del NP_009179.2:p.Pro280_Ala285del NC_000003.12:48467513:CTGCTGGCCCCACTGGGTCTGCTGGCC:CTGCTGGCC p.(Pro280_Ala285del) NC_000003.12:48467513:CTGCTGGCCCCACTGGGTCTGCTGGCC:CTGCTGGCC p.(Pro280_Ala285del) NC_000003.12:48467522:CCACTGGGTCTGCTGGCC: Identity +NM_024675.4:c.1881G>T NP_078951.2:p.Val627= NC_000016.10:23630272:C:A p.(Val627=) NC_000016.10:23630272:C:A p.(Val627=) NC_000016.10:23630272:C:A Identity +NM_024675.4:c.3495G>A NP_078951.2:p.Ser1165= NC_000016.10:23603524:C:T p.(Ser1165=) NC_000016.10:23603524:C:T p.(Ser1165=) NC_000016.10:23603524:C:T Identity +NM_015192.4:c.2967G>A NP_056007.1:p.Thr989= NC_000020.11:8774574:G:A p.(Thr989=) NC_000020.11:8774574:G:A p.(Thr989=) NC_000020.11:8774574:G:A Identity +NM_001177984.3:c.3999T>A NP_001171455.1:p.Thr1333= NC_000012.12:51786720:T:A p.(Thr1333=) NC_000012.12:51786720:T:A p.(Thr1333=) NC_000012.12:51786720:T:A Identity +NM_000038.6:c.4326T>A NP_000029.2:p.Pro1442= NC_000005.10:112839919:T:A p.(Pro1442=) NC_000005.10:112839919:T:A p.(Pro1442=) NC_000005.10:112839919:T:A Identity +NM_001024688.3:c.135T>C NP_001019859.1:p.Ala45= NC_000008.11:89980832:A:G p.(Ala45=) NC_000008.11:89980832:A:G p.(Ala45=) NC_000008.11:89980832:A:G Identity +NM_004260.4:c.2557TGCACC[2] NP_004251.4:p.853CT[2] NC_000008.11:144513027:GGTGCAGGTGCAGGTGCAGG:GGTGCAGGTGCAGG p.(Cys857_Thr858del) NC_000008.11:144513044:A:GGTGCAGGTGCA ERR:Parse ERR:Parse Analogous +NM_000179.3:c.178T>C NP_000170.1:p.Leu60= NC_000002.12:47783410:T:C p.(Leu60=) NC_000002.12:47783410:T:C p.(Leu60=) NC_000002.12:47783410:T:C Identity +NM_000264.5:c.3435C>T NP_000255.2:p.Phe1145= NC_000009.12:95453491:G:A p.(Phe1145=) NC_000009.12:95453491:G:A p.(Phe1145=) NC_000009.12:95453491:G:A Identity +NM_000048.4:c.556C>A NP_000039.2:p.Arg186= NC_000007.14:66086774:C:A p.(Arg186=) NC_000007.14:66086774:C:A p.(Arg186=) NC_000007.14:66086774:C:A Identity +NM_000719.7:c.846C>T NP_000710.5:p.Tyr282= NC_000012.12:2486191:C:T p.(Tyr282=) NC_000012.12:2486191:C:T p.(Tyr282=) NC_000012.12:2486191:C:T Identity +NM_000719.7:c.5214C>A NP_000710.5:p.Gly1738= NC_000012.12:2679565:C:A p.(Gly1738=) NC_000012.12:2679565:C:A p.(Gly1738=) NC_000012.12:2679565:C:A Identity +NM_000726.5:c.1413G>A NP_000717.2:p.Arg471= NC_000002.12:151839268:C:T p.(Arg471=) NC_000002.12:151839268:C:T p.(Arg471=) NC_000002.12:151839268:C:T Identity +NM_000086.2:c.831G>A NP_000077.1:p.Val277= NC_000016.10:28482631:C:T p.(Val277=) NC_000016.10:28482631:C:T p.(Val277=) NC_000016.10:28482631:C:T Identity +NM_000093.5:c.3855C>T NP_000084.3:p.Gly1285= NC_000009.12:134813984:C:T p.(Gly1285=) NC_000009.12:134813984:C:T p.(Gly1285=) NC_000009.12:134813984:C:T Identity +NM_001172420.2:c.1530G>A NP_001165891.1:p.Ala510= NC_000006.12:52479733:G:A p.(Ala510=) NC_000006.12:52479733:G:A p.(Ala510=) NC_000006.12:52479733:G:A Identity +NM_000138.5:c.306C>T NP_000129.3:p.Cys102= NC_000015.10:48610767:G:A p.(Cys102=) NC_000015.10:48610767:G:A p.(Cys102=) NC_000015.10:48610767:G:A Identity +NM_001999.4:c.8304C>T NP_001990.2:p.Asn2768= NC_000005.10:128261795:G:A p.(Asn2768=) NC_000005.10:128261795:G:A p.(Asn2768=) NC_000005.10:128261795:G:A Identity +NM_000462.5:c.1776C>T NP_000453.2:p.Tyr592= NC_000015.10:25356882:G:A p.(Tyr592=) NC_000015.10:25356882:G:A p.(Tyr592=) NC_000015.10:25356882:G:A Identity +NM_004518.6:c.303C>G NP_004509.2:p.Leu101= NC_000020.11:63446830:G:C p.(Leu101=) NC_000020.11:63446830:G:C p.(Leu101=) NC_000020.11:63446830:G:C Identity +NM_001308275.2:c.717A>C NP_001295204.1:p.Ile239= NC_000010.11:93793228:A:C p.(Ile239=) NC_000010.11:93793228:A:C p.(Ile239=) NC_000010.11:93793228:A:C Identity +NM_001110792.2:c.639G>A NP_001104262.1:p.Ala213= NC_000023.11:154031224:C:T p.(Ala213=) NC_000023.11:154031224:C:T p.(Ala213=) NC_000023.11:154031224:C:T Identity +NM_001002019.3:c.915G>C NP_001002019.1:p.Leu305= NC_000012.12:131941745:G:C p.(Leu305=) NC_000012.12:131941745:G:C p.(Leu305=) NC_000012.12:131941745:G:C Identity +NM_001165963.4:c.4872G>A NP_001159435.1:p.Leu1624= NC_000002.12:165992402:C:T p.(Leu1624=) NC_000002.12:165992402:C:T p.(Leu1624=) NC_000002.12:165992402:C:T Identity +NM_001130438.3:c.2610A>G NP_001123910.1:p.Gln870= NC_000009.12:128585796:A:G p.(Gln870=) NC_000009.12:128585796:A:G p.(Gln870=) NC_000009.12:128585796:A:G Identity +NM_001130438.3:c.3051G>A NP_001123910.1:p.Pro1017= NC_000009.12:128591520:G:A p.(Pro1017=) NC_000009.12:128591520:G:A p.(Pro1017=) NC_000009.12:128591520:G:A Identity +NM_001130438.3:c.3970C>T NP_001123910.1:p.Leu1324= NC_000009.12:128605400:C:T p.(Leu1324=) NC_000009.12:128605400:C:T p.(Leu1324=) NC_000009.12:128605400:C:T Identity +NM_000455.5:c.1296G>A NP_000446.1:p.Gln432= NC_000019.10:1226640:G:A p.(Gln432=) NC_000019.10:1226640:G:A p.(Gln432=) NC_000019.10:1226640:G:A Identity +NM_001032221.6:c.888C>T NP_001027392.1:p.Ile296= NC_000009.12:127668172:C:T p.(Ile296=) NC_000009.12:127668172:C:T p.(Ile296=) NC_000009.12:127668172:C:T Identity +NM_001083962.2:c.1905G>A NP_001077431.1:p.Ala635= NC_000018.10:55228335:C:T p.(Ala635=) NC_000018.10:55228335:C:T p.(Ala635=) NC_000018.10:55228335:C:T Identity +NM_000352.6:c.3612C>T NP_000343.2:p.Ala1204= NC_000011.10:17402698:G:A p.(Ala1204=) NC_000011.10:17402698:G:A p.(Ala1204=) NC_000011.10:17402698:G:A Identity +NM_001365684.2:c.3732C>T NP_001352613.2:p.Arg1244= NC_000005.10:177248287:C:T p.(Arg1244=) NC_000005.10:177248287:C:T p.(Arg1244=) NC_000005.10:177248287:C:T Identity +NM_001315529.2:c.7449G>A NP_001302458.1:p.Ala2483= NC_000021.9:46430121:G:A p.(Ala2483=) NC_000021.9:46430121:G:A p.(Ala2483=) NC_000021.9:46430121:G:A Identity +NM_001191060.2:c.474C>T NP_001177989.1:p.Pro158= NC_000011.10:792665:G:A p.(Pro158=) NC_000011.10:792665:G:A p.(Pro158=) NC_000011.10:792665:G:A Identity +NM_005445.4:c.255A>G NP_005436.1:p.Ser85= NC_000010.11:110577476:A:G p.(Ser85=) NC_000010.11:110577476:A:G p.(Ser85=) NC_000010.11:110577476:A:G Identity +NM_001130438.3:c.2889G>A NP_001123910.1:p.Thr963= NC_000009.12:128588825:G:A p.(Thr963=) NC_000009.12:128588825:G:A p.(Thr963=) NC_000009.12:128588825:G:A Identity +NM_002458.3:c.324C>T NP_002449.2:p.Arg108= NC_000011.10:1226738:C:T p.(Arg108=) NC_000011.10:1226738:C:T p.(Arg108=) NC_000011.10:1226738:C:T Identity +NM_000070.3:c.598_612del NP_000061.1:p.Phe200_Leu204del NC_000015.10:42387850:GTTCTGGAGTGCTCTG:G p.(Phe200_Leu204del) NC_000015.10:42387850:GTTCTGGAGTGCTCTG:G p.(Phe200_Leu204del) NC_000015.10:42387851:TTCTGGAGTGCTCTG: Identity +LRG_773t1:c.795G>A LRG_773p1:p.Lys265= NC_000023.11:53412246:C:T ERR:Data provider error: ValueError: Transcript LRG_773t1 not found ERR:Data provider error: ValueError: Transcript LRG_773t1 not found ERR:AlignmentMapper(tx_ac=LRG_773t1, alt_ac=LRG_773t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_773t1, alt_ac=LRG_773t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_773t1 not found +NM_001376256.1:c.807T>C NP_001363185.1:p.Phe269= NC_000016.10:21261326:A:G p.(Phe269=) NC_000016.10:21261326:A:G p.(Phe269=) NC_000016.10:21261326:A:G Identity +NM_002473.6:c.4878C>T NP_002464.1:p.Ile1626= NC_000022.11:36288305:G:A p.(Ile1626=) NC_000022.11:36288305:G:A p.(Ile1626=) NC_000022.11:36288305:G:A Identity +NM_016239.4:c.6669G>A NP_057323.3:p.Ala2223= NC_000017.11:18148187:G:A p.(Ala2223=) NC_000017.11:18148187:G:A p.(Ala2223=) NC_000017.11:18148187:G:A Identity +NM_001317184.2:c.2337C>T NP_001304113.1:p.Ser779= NC_000016.10:68833369:C:T p.(Ser779=) NC_000016.10:68833369:C:T p.(Ser779=) NC_000016.10:68833369:C:T Identity +NM_000546.6:c.1149C>T NP_000537.3:p.Leu383= NC_000017.11:7669641:G:A p.(Leu383=) NC_000017.11:7669641:G:A p.(Leu383=) NC_000017.11:7669641:G:A Identity +NM_000314.8:c.855A>G NP_000305.3:p.Glu285= NC_000010.11:87960946:A:G p.(Glu285=) NC_000010.11:87960946:A:G p.(Glu285=) NC_000010.11:87960946:A:G Identity +NM_000038.6:c.5805G>A NP_000029.2:p.Gln1935= NC_000005.10:112841398:G:A p.(Gln1935=) NC_000005.10:112841398:G:A p.(Gln1935=) NC_000005.10:112841398:G:A Identity +NM_000535.7:c.1197G>A NP_000526.2:p.Lys399= NC_000007.14:5987567:C:T p.(Lys399=) NC_000007.14:5987567:C:T p.(Lys399=) NC_000007.14:5987567:C:T Identity +NM_000059.4:c.3462C>T NP_000050.3:p.Thr1154= NC_000013.11:32337816:C:T p.(Thr1154=) NC_000013.11:32337816:C:T p.(Thr1154=) NC_000013.11:32337816:C:T Identity +NM_000249.4:c.636C>T NP_000240.1:p.Thr212= NC_000003.12:37012057:C:T p.(Thr212=) NC_000003.12:37012057:C:T p.(Thr212=) NC_000003.12:37012057:C:T Identity +NM_000455.5:c.972G>A NP_000446.1:p.Pro324= NC_000019.10:1223035:G:A p.(Pro324=) NC_000019.10:1223035:G:A p.(Pro324=) NC_000019.10:1223035:G:A Identity +NM_001142571.2:c.960A>G NP_001136043.1:p.Arg320= NC_000017.11:35101203:T:C p.(Arg320=) NC_000017.11:35101203:T:C p.(Arg320=) NC_000017.11:35101203:T:C Identity +NM_000124.4:c.150G>A NP_000115.1:p.Val50= NC_000010.11:49532814:C:T p.(Val50=) NC_000010.11:49532814:C:T p.(Val50=) NC_000010.11:49532814:C:T Identity +NM_000516.7:c.-18GCC[7] NP_000507.1:p.Met1_Gly2insAla NC_000020.11:58891706:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC p.(Ter0_Met1insAla) NC_000020.11:58891708:G:GCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Different +NM_003036.4:c.216C>T NP_003027.1:p.Pro72= NC_000001.11:2228981:C:T p.(Pro72=) NC_000001.11:2228981:C:T p.(Pro72=) NC_000001.11:2228981:C:T Identity +NM_021072.4:c.336C>A NP_066550.2:p.Arg112= NC_000005.10:45695757:G:T p.(Arg112=) NC_000005.10:45695757:G:T p.(Arg112=) NC_000005.10:45695757:G:T Identity +NM_147127.5:c.18C>T NP_667338.3:p.Ser6= NC_000004.12:5708495:G:A p.(Ser6=) NC_000004.12:5708495:G:A p.(Ser6=) NC_000004.12:5708495:G:A Identity +NM_001110556.2:c.1812C>T NP_001104026.1:p.Asp604= NC_000023.11:154364836:G:A p.(Asp604=) NC_000023.11:154364836:G:A p.(Asp604=) NC_000023.11:154364836:G:A Identity +NM_000719.7:c.1707A>G NP_000710.5:p.Ala569= NC_000012.12:2567605:A:G p.(Ala569=) NC_000012.12:2567605:A:G p.(Ala569=) NC_000012.12:2567605:A:G Identity +NM_001193314.2:c.1242G>A NP_001180243.1:p.Leu414= NC_000014.9:77429704:C:T p.(Leu414=) NC_000014.9:77429704:C:T p.(Leu414=) NC_000014.9:77429704:C:T Identity +NM_000275.3:c.45G>A NP_000266.2:p.Pro15= NC_000015.10:28081829:C:T p.(Pro15=) NC_000015.10:28081829:C:T p.(Pro15=) NC_000015.10:28081829:C:T Identity +NM_139058.3:c.336A>G NP_620689.1:p.Ala112= NC_000023.11:25013658:T:C p.(Ala112=) NC_000023.11:25013658:T:C p.(Ala112=) NC_000023.11:25013658:T:C Identity +LRG_1199t1:c.2943C>T LRG_1199p1:p.Tyr981= NC_000002.12:168935296:G:A ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001079846.1:c.4380A>G NP_001073315.1:p.Arg1460= NC_000016.10:3736715:T:C p.(Arg1460=) NC_000016.10:3736715:T:C p.(Arg1460=) NC_000016.10:3736715:T:C Identity +NM_001170629.2:c.1407T>C NP_001164100.1:p.Ile469= NC_000014.9:21428062:A:G p.(Ile469=) NC_000014.9:21428062:A:G p.(Ile469=) NC_000014.9:21428062:A:G Identity +NM_000445.5:c.6675C>T NP_000436.2:p.Thr2225= NC_000008.11:143923334:G:A p.(Thr2225=) NC_000008.11:143923334:G:A p.(Thr2225=) NC_000008.11:143923334:G:A Identity +NM_000088.4:c.3123C>T NP_000079.2:p.Pro1041= NC_000017.11:50188613:G:A p.(Pro1041=) NC_000017.11:50188613:G:A p.(Pro1041=) NC_000017.11:50188613:G:A Identity +NM_001845.6:c.3996C>T NP_001836.3:p.Gly1332= NC_000013.11:110166256:G:A p.(Gly1332=) NC_000013.11:110166256:G:A p.(Gly1332=) NC_000013.11:110166256:G:A Identity +NM_001031717.4:c.498C>T NP_001026887.2:p.Tyr166= NC_000003.12:9940886:C:T p.(Tyr166=) NC_000003.12:9940886:C:T p.(Tyr166=) NC_000003.12:9940886:C:T Identity +NM_002180.3:c.741C>T NP_002171.2:p.Ala247= NC_000011.10:68914851:C:T p.(Ala247=) NC_000011.10:68914851:C:T p.(Ala247=) NC_000011.10:68914851:C:T Identity +NM_001173408.2:c.2238G>A NP_001166879.1:p.Pro746= NC_000002.12:219565410:C:T p.(Pro746=) NC_000002.12:219565410:C:T p.(Pro746=) NC_000002.12:219565410:C:T Identity +NM_001143850.3:c.717C>G NP_001137322.1:p.Pro239= NC_000012.12:123686990:C:G p.(Pro239=) NC_000012.12:123686990:C:G p.(Pro239=) NC_000012.12:123686990:C:G Identity +NM_001145392.2:c.870A>G NP_001138864.1:p.Pro290= NC_000003.12:12505191:A:G p.(Pro290=) NC_000003.12:12505191:A:G p.(Pro290=) NC_000003.12:12505191:A:G Identity +NM_001354233.2:c.828G>A NP_001341162.1:p.Glu276= NC_000002.12:85840188:C:T p.(Glu276=) NC_000002.12:85840188:C:T p.(Glu276=) NC_000002.12:85840188:C:T Identity +NM_012469.4:c.891C>T NP_036601.2:p.Leu297= NC_000020.11:63999626:C:T p.(Leu297=) NC_000020.11:63999626:C:T p.(Leu297=) NC_000020.11:63999626:C:T Identity +NM_198586.3:c.969C>T NP_940988.2:p.Ser323= NC_000006.12:18121637:G:A p.(Ser323=) NC_000006.12:18121637:G:A p.(Ser323=) NC_000006.12:18121637:G:A Identity +NM_001177984.3:c.3876G>A NP_001171455.1:p.Val1292= NC_000012.12:51786597:G:A p.(Val1292=) NC_000012.12:51786597:G:A p.(Val1292=) NC_000012.12:51786597:G:A Identity +NM_001199107.2:c.1503G>A NP_001186036.1:p.Gly501= NC_000016.10:2500467:G:A p.(Gly501=) NC_000016.10:2500467:G:A p.(Gly501=) NC_000016.10:2500467:G:A Identity +NM_001252127.2:c.33T>C NP_001239056.1:p.Tyr11= NC_000015.10:50915482:T:C p.(Tyr11=) NC_000015.10:50915482:T:C p.(Tyr11=) NC_000015.10:50915482:T:C Identity +NM_001349896.1:c.888C>T NP_001336825.1:p.Asn296= NC_000022.11:26464741:G:A p.(Asn296=) NC_000022.11:26464741:G:A p.(Asn296=) NC_000022.11:26464741:G:A Identity +NM_024884.3:c.6G>T NP_079160.1:p.Val2= NC_000014.9:50312144:C:A p.(Val2=) NC_000014.9:50312144:C:A p.(Val2=) NC_000014.9:50312144:C:A Identity +NM_000426.4:c.1308T>G NP_000417.3:p.Gly436= NC_000006.12:129177706:T:G p.(Gly436=) NC_000006.12:129177706:T:G p.(Gly436=) NC_000006.12:129177706:T:G Identity +NM_030665.4:c.1524G>A NP_109590.3:p.Thr508= NC_000017.11:17794471:G:A p.(Thr508=) NC_000017.11:17794471:G:A p.(Thr508=) NC_000017.11:17794471:G:A Identity +NM_001318520.2:c.3279C>T NP_001305449.1:p.Ala1093= NC_000018.10:70020752:G:A p.(Ala1093=) NC_000018.10:70020752:G:A p.(Ala1093=) NC_000018.10:70020752:G:A Identity +NM_001191060.2:c.885C>T NP_001177989.1:p.Ile295= NC_000011.10:792001:G:A p.(Ile295=) NC_000011.10:792001:G:A p.(Ile295=) NC_000011.10:792001:G:A Identity +NM_001128844.3:c.120C>T NP_001122316.1:p.His40= NC_000019.10:10984270:C:T p.(His40=) NC_000019.10:10984270:C:T p.(His40=) NC_000019.10:10984270:C:T Identity +NM_001199107.2:c.1026G>A NP_001186036.1:p.Ser342= NC_000016.10:2498279:G:A p.(Ser342=) NC_000016.10:2498279:G:A p.(Ser342=) NC_000016.10:2498279:G:A Identity +NM_001135599.4:c.114G>A NP_001129071.1:p.Glu38= NC_000001.11:218346814:G:A p.(Glu38=) NC_000001.11:218346814:G:A p.(Glu38=) NC_000001.11:218346814:G:A Identity +NM_007215.4:c.927C>T NP_009146.2:p.His309= NC_000017.11:64490837:G:A p.(His309=) NC_000017.11:64490837:G:A p.(His309=) NC_000017.11:64490837:G:A Identity +NM_001002019.3:c.1056C>T NP_001002019.1:p.Thr352= NC_000012.12:131941886:C:T p.(Thr352=) NC_000012.12:131941886:C:T p.(Thr352=) NC_000012.12:131941886:C:T Identity +NM_000264.5:c.2799G>A NP_000255.2:p.Ala933= NC_000009.12:95459687:C:T p.(Ala933=) NC_000009.12:95459687:C:T p.(Ala933=) NC_000009.12:95459687:C:T Identity +NM_000264.5:c.3633C>G NP_000255.2:p.Pro1211= NC_000009.12:95449239:G:C p.(Pro1211=) NC_000009.12:95449239:G:C p.(Pro1211=) NC_000009.12:95449239:G:C Identity +NM_001365951.3:c.4596C>T NP_001352880.1:p.Pro1532= NC_000001.11:10365491:C:T p.(Pro1532=) NC_000001.11:10365491:C:T p.(Pro1532=) NC_000001.11:10365491:C:T Identity +NM_000059.4:c.7995T>C NP_000050.3:p.Asp2665= NC_000013.11:32363196:T:C p.(Asp2665=) NC_000013.11:32363196:T:C p.(Asp2665=) NC_000013.11:32363196:T:C Identity +NM_001313741.1:c.2880A>G NP_001300670.1:p.Lys960= NC_000013.11:25860859:A:G p.(Lys960=) NC_000013.11:25860859:A:G p.(Lys960=) NC_000013.11:25860859:A:G Identity +NM_001256849.1:c.1620C>T NP_001243778.1:p.Gly540= NC_000019.10:50407107:C:T p.(Gly540=) NC_000019.10:50407107:C:T p.(Gly540=) NC_000019.10:50407107:C:T Identity +LRG_1122t1:c.1635C>T LRG_1122p1:p.Asp545= NC_000009.12:136516014:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001256849.1:c.1275C>T NP_001243778.1:p.Ala425= NC_000019.10:50406213:C:T p.(Ala425=) NC_000019.10:50406213:C:T p.(Ala425=) NC_000019.10:50406213:C:T Identity +NM_021922.3:c.1572G>A NP_068741.1:p.Arg524= NC_000006.12:35466305:G:A p.(Arg524=) NC_000006.12:35466305:G:A p.(Arg524=) NC_000006.12:35466305:G:A Identity +NM_016239.4:c.915C>T NP_057323.3:p.Tyr305= NC_000017.11:18119714:C:T p.(Tyr305=) NC_000017.11:18119714:C:T p.(Tyr305=) NC_000017.11:18119714:C:T Identity +NM_001142771.2:c.4686G>A NP_001136243.1:p.Thr1562= NC_000010.11:53806941:C:T p.(Thr1562=) NC_000010.11:53806941:C:T p.(Thr1562=) NC_000010.11:53806941:C:T Identity +NM_001039876.3:c.805C>T NP_001034965.1:p.Leu269= NC_000019.10:36006484:G:A p.(Leu269=) NC_000019.10:36006484:G:A p.(Leu269=) NC_000019.10:36006484:G:A Identity +NM_016239.4:c.349_357del NP_057323.3:p.Tyr117_Arg119del NC_000017.11:18119146:GCTACGGCCGC:GC p.(Tyr117_Arg119del) NC_000017.11:18119146:GCTACGGCCGC:GC p.(Tyr117_Arg119del) NC_000017.11:18119148:TACGGCCGC: Identity +NM_000038.6:c.7095A>G NP_000029.2:p.Ser2365= NC_000005.10:112842688:A:G p.(Ser2365=) NC_000005.10:112842688:A:G p.(Ser2365=) NC_000005.10:112842688:A:G Identity +NM_001317184.2:c.1590C>T NP_001304113.1:p.Asn530= NC_000016.10:68822061:C:T p.(Asn530=) NC_000016.10:68822061:C:T p.(Asn530=) NC_000016.10:68822061:C:T Identity +LRG_533t1:c.456G>A LRG_533p1:p.Pro152= NC_000011.10:2885033:C:T ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_000222.3:c.2118T>G NP_000213.1:p.Leu706= NC_000004.12:54729461:T:G p.(Leu706=) NC_000004.12:54729461:T:G p.(Leu706=) NC_000004.12:54729461:T:G Identity +NM_000222.3:c.2208C>T NP_000213.1:p.Ala736= NC_000004.12:54731393:C:T p.(Ala736=) NC_000004.12:54731393:C:T p.(Ala736=) NC_000004.12:54731393:C:T Identity +NM_000553.6:c.3417T>C NP_000544.2:p.Ser1139= NC_000008.11:31147085:T:C p.(Ser1139=) NC_000008.11:31147085:T:C p.(Ser1139=) NC_000008.11:31147085:T:C Identity +NM_001099274.3:c.1236C>T NP_001092744.1:p.Asn412= NC_000014.9:24239916:G:A p.(Asn412=) NC_000014.9:24239916:G:A p.(Asn412=) NC_000014.9:24239916:G:A Identity +NM_001211.6:c.348T>C NP_001202.5:p.Tyr116= NC_000015.10:40170644:T:C p.(Tyr116=) NC_000015.10:40170644:T:C p.(Tyr116=) NC_000015.10:40170644:T:C Identity +NM_001001890.3:c.63C>T NP_001001890.1:p.Ser21= NC_000021.9:34887049:G:A p.(Ser21=) NC_000021.9:34887049:G:A p.(Ser21=) NC_000021.9:34887049:G:A Identity +NM_001007468.3:c.870G>T NP_001007469.1:p.Ser290= NC_000022.11:23825325:G:T p.(Ser290=) NC_000022.11:23825325:G:T p.(Ser290=) NC_000022.11:23825325:G:T Identity +NM_004260.4:c.3609C>T NP_004251.4:p.Leu1203= NC_000008.11:144511448:G:A p.(Leu1203=) NC_000008.11:144511448:G:A p.(Leu1203=) NC_000008.11:144511448:G:A Identity +NM_004656.4:c.1548G>A NP_004647.1:p.Pro516= NC_000003.12:52403596:C:T p.(Pro516=) NC_000003.12:52403596:C:T p.(Pro516=) NC_000003.12:52403596:C:T Identity +NM_001347827.2:c.2205G>A NP_001334756.1:p.Lys735= NC_000004.12:54280363:G:A p.(Lys735=) NC_000004.12:54280363:G:A p.(Lys735=) NC_000004.12:54280363:G:A Identity +NM_006231.4:c.5478G>T NP_006222.2:p.Arg1826= NC_000012.12:132639198:C:A p.(Arg1826=) NC_000012.12:132639198:C:A p.(Arg1826=) NC_000012.12:132639198:C:A Identity +NM_006231.4:c.5496T>C NP_006222.2:p.Leu1832= NC_000012.12:132639180:A:G p.(Leu1832=) NC_000012.12:132639180:A:G p.(Leu1832=) NC_000012.12:132639180:A:G Identity +NM_001278055.2:c.2688A>G NP_001264984.1:p.Ser896= NC_000013.11:23340746:T:C p.(Ser896=) NC_000013.11:23340746:T:C p.(Ser896=) NC_000013.11:23340746:T:C Identity +LRG_1122t1:c.1665G>A LRG_1122p1:p.Thr555= NC_000009.12:136515984:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001040875.4:c.841T>C NP_001035808.1:p.Leu281= NC_000008.11:74364334:T:C p.(Leu281=) NC_000008.11:74364334:T:C p.(Leu281=) NC_000008.11:74364334:T:C Identity +NM_030578.4:c.195C>T NP_085055.2:p.Phe65= NC_000019.10:41357915:G:A p.(Phe65=) NC_000019.10:41357915:G:A p.(Phe65=) NC_000019.10:41357915:G:A Identity +NM_000724.4:c.828G>A NP_000715.2:p.Ser276= NC_000010.11:18527635:G:A p.(Ser276=) NC_000010.11:18527635:G:A p.(Ser276=) NC_000010.11:18527635:G:A Identity +NM_000070.3:c.1302C>T NP_000061.1:p.Asn434= NC_000015.10:42399599:C:T p.(Asn434=) NC_000015.10:42399599:C:T p.(Asn434=) NC_000015.10:42399599:C:T Identity +NM_000352.6:c.4542C>A NP_000343.2:p.Ala1514= NC_000011.10:17394268:G:T p.(Ala1514=) NC_000011.10:17394268:G:T p.(Ala1514=) NC_000011.10:17394268:G:T Identity +NM_000543.5:c.107_112del NP_000534.3:p.Val36_Leu37del NC_000011.10:6390700:CTGGTGCTGG:CTGG p.(Val36_Leu37del) NC_000011.10:6390700:CTGGTGCTGG:CTGG p.(Val36_Leu37del) NC_000011.10:6390704:TGCTGG: Identity +NM_000552.5:c.3789G>A NP_000543.3:p.Ser1263= NC_000012.12:6019628:C:T p.(Ser1263=) NC_000012.12:6019628:C:T p.(Ser1263=) NC_000012.12:6019628:C:T Identity +NM_000296.4:c.8298C>T NP_000287.4:p.Ser2766= NC_000016.10:2103758:G:A p.(Ser2766=) NC_000016.10:2103758:G:A p.(Ser2766=) NC_000016.10:2103758:G:A Identity +NM_001101362.3:c.1077A>G NP_001094832.1:p.Gly359= NC_000015.10:65077891:A:G p.(Gly359=) NC_000015.10:65077891:A:G p.(Gly359=) NC_000015.10:65077891:A:G Identity +NM_001844.5:c.1287T>C NP_001835.3:p.Gly429= NC_000012.12:47987155:A:G p.(Gly429=) NC_000012.12:47987155:A:G p.(Gly429=) NC_000012.12:47987155:A:G Identity +NM_001845.6:c.4797G>A NP_001836.3:p.Ala1599= NC_000013.11:110152464:C:T p.(Ala1599=) NC_000013.11:110152464:C:T p.(Ala1599=) NC_000013.11:110152464:C:T Identity +NM_005055.5:c.162G>A NP_005046.2:p.Ser54= NC_000011.10:47448802:C:T p.(Ser54=) NC_000011.10:47448802:C:T p.(Ser54=) NC_000011.10:47448802:C:T Identity +NM_001145102.2:c.675C>T NP_001138574.1:p.Thr225= NC_000015.10:67184844:C:T p.(Thr225=) NC_000015.10:67184844:C:T p.(Thr225=) NC_000015.10:67184844:C:T Identity +NM_006218.4:c.318C>A NP_006209.2:p.Gly106= NC_000003.12:179199142:C:A p.(Gly106=) NC_000003.12:179199142:C:A p.(Gly106=) NC_000003.12:179199142:C:A Identity +NM_001330538.2:c.3210C>T NP_001317467.1:p.Pro1070= NC_000016.10:53622338:G:A p.(Pro1070=) NC_000016.10:53622338:G:A p.(Pro1070=) NC_000016.10:53622338:G:A Identity +NM_001365276.2:c.10677A>G NP_001352205.1:p.Leu3559= NC_000006.12:32045255:T:C p.(Leu3559=) NC_000006.12:32045255:T:C p.(Leu3559=) NC_000006.12:32045255:T:C Identity +NM_001365276.2:c.9672G>A NP_001352205.1:p.Leu3224= NC_000006.12:32049354:C:T p.(Leu3224=) NC_000006.12:32049354:C:T p.(Leu3224=) NC_000006.12:32049354:C:T Identity +NM_001318502.2:c.1296G>A NP_001305431.1:p.Ala432= NC_000009.12:136432566:C:T p.(Ala432=) NC_000009.12:136432566:C:T p.(Ala432=) NC_000009.12:136432566:C:T Identity +NM_002471.4:c.4026C>T NP_002462.2:p.Cys1342= NC_000014.9:23389007:G:A p.(Cys1342=) NC_000014.9:23389007:G:A p.(Cys1342=) NC_000014.9:23389007:G:A Identity +NM_001256850.1:c.80469T>C NP_001243779.1:p.Thr26823= NC_000002.12:178560739:A:G p.(Thr26823=) NC_000002.12:178560739:A:G p.(Thr26823=) NC_000002.12:178560739:A:G Identity +NM_000302.4:c.1140C>T NP_000293.2:p.Ser380= NC_000001.11:11963573:C:T p.(Ser380=) NC_000001.11:11963573:C:T p.(Ser380=) NC_000001.11:11963573:C:T Identity +NM_001256850.1:c.93282A>C NP_001243779.1:p.Ile31094= NC_000002.12:178539859:T:G p.(Ile31094=) NC_000002.12:178539859:T:G p.(Ile31094=) NC_000002.12:178539859:T:G Identity +NM_001079846.1:c.6486GCAGCAGCAACA[1] NP_001073315.1:p.Gln2175_Gln2178del NC_000016.10:3728423:TGTTGCTGCTGCTGTTGCTGCTGCTG:TGTTGCTGCTGCTG p.(Gln2175_Gln2178del) NC_000016.10:3728446:C:TGTTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_033071.5:c.9510A>G NP_149062.2:p.Gln3170= NC_000006.12:152373054:T:C p.(Gln3170=) NC_000006.12:152373054:T:C p.(Gln3170=) NC_000006.12:152373054:T:C Identity +NM_004369.4:c.7983C>T NP_004360.2:p.Phe2661= NC_000002.12:237340932:G:A p.(Phe2661=) NC_000002.12:237340932:G:A p.(Phe2661=) NC_000002.12:237340932:G:A Identity +NM_000445.5:c.3456C>G NP_000436.2:p.Leu1152= NC_000008.11:143927877:G:C p.(Leu1152=) NC_000008.11:143927877:G:C p.(Leu1152=) NC_000008.11:143927877:G:C Identity +NM_014639.4:c.4344A>G NP_055454.1:p.Leu1448= NC_000005.10:95478310:T:C p.(Leu1448=) NC_000005.10:95478310:T:C p.(Leu1448=) NC_000005.10:95478310:T:C Identity +NM_033071.5:c.22341G>A NP_149062.2:p.Gly7447= NC_000006.12:152211528:C:T p.(Gly7447=) NC_000006.12:152211528:C:T p.(Gly7447=) NC_000006.12:152211528:C:T Identity +NM_000445.5:c.2866C>T NP_000436.2:p.Leu956= NC_000008.11:143929783:G:A p.(Leu956=) NC_000008.11:143929783:G:A p.(Leu956=) NC_000008.11:143929783:G:A Identity +NM_000068.4:c.4302G>T NP_000059.3:p.Ala1434= NC_000019.10:13259661:C:A p.(Ala1434=) NC_000019.10:13259661:C:A p.(Ala1434=) NC_000019.10:13259661:C:A Identity +NM_014918.5:c.2088G>A NP_055733.2:p.Thr696= NC_000015.10:101177708:C:T p.(Thr696=) NC_000015.10:101177708:C:T p.(Thr696=) NC_000015.10:101177708:C:T Identity +NM_001195622.2:c.1965C>T NP_001182551.1:p.Tyr655= NC_000009.12:32542364:G:A p.(Tyr655=) NC_000009.12:32542364:G:A p.(Tyr655=) NC_000009.12:32542364:G:A Identity +NM_001848.3:c.1398G>A NP_001839.2:p.Pro466= NC_000021.9:45994228:G:A p.(Pro466=) NC_000021.9:45994228:G:A p.(Pro466=) NC_000021.9:45994228:G:A Identity +NM_001848.3:c.1644C>T NP_001839.2:p.Asp548= NC_000021.9:45998928:C:T p.(Asp548=) NC_000021.9:45998928:C:T p.(Asp548=) NC_000021.9:45998928:C:T Identity +NM_001080463.2:c.8481A>C NP_001073932.1:p.Thr2827= NC_000011.10:103209901:A:C p.(Thr2827=) NC_000011.10:103209901:A:C p.(Thr2827=) NC_000011.10:103209901:A:C Identity +NM_004637.6:c.423C>G NP_004628.4:p.Ala141= NC_000003.12:128807565:C:G p.(Ala141=) NC_000003.12:128807565:C:G p.(Ala141=) NC_000003.12:128807565:C:G Identity +NM_001032221.6:c.1335C>T NP_001027392.1:p.His445= NC_000009.12:127676728:C:T p.(His445=) NC_000009.12:127676728:C:T p.(His445=) NC_000009.12:127676728:C:T Identity +NM_004369.4:c.6798C>T NP_004360.2:p.Thr2266= NC_000002.12:237351147:G:A p.(Thr2266=) NC_000002.12:237351147:G:A p.(Thr2266=) NC_000002.12:237351147:G:A Identity +NM_001184795.1:c.441A>G NP_001171724.1:p.Gly147= NC_000001.11:145912457:T:C p.(Gly147=) NC_000001.11:145912457:T:C p.(Gly147=) NC_000001.11:145912457:T:C Identity +NM_033071.5:c.17427C>T NP_149062.2:p.Arg5809= NC_000006.12:152300682:G:A p.(Arg5809=) NC_000006.12:152300682:G:A p.(Arg5809=) NC_000006.12:152300682:G:A Identity +NM_001142777.2:c.357C>T NP_001136249.1:p.Thr119= NC_000016.10:30986456:C:T p.(Thr119=) NC_000016.10:30986456:C:T p.(Thr119=) NC_000016.10:30986456:C:T Identity +NM_022124.6:c.4782C>T NP_071407.4:p.Arg1594= NC_000010.11:71741857:C:T p.(Arg1594=) NC_000010.11:71741857:C:T p.(Arg1594=) NC_000010.11:71741857:C:T Identity +NM_001164317.2:c.6777C>T NP_001157789.1:p.Ile2259= NC_000003.12:58154839:C:T p.(Ile2259=) NC_000003.12:58154839:C:T p.(Ile2259=) NC_000003.12:58154839:C:T Identity +NM_000540.3:c.4980C>T NP_000531.2:p.Arg1660= NC_000019.10:38485634:C:T p.(Arg1660=) NC_000019.10:38485634:C:T p.(Arg1660=) NC_000019.10:38485634:C:T Identity +NM_005216.5:c.663G>A NP_005207.3:p.Gly221= NC_000001.11:20654353:C:T p.(Gly221=) NC_000001.11:20654353:C:T p.(Gly221=) NC_000001.11:20654353:C:T Identity +NM_005216.5:c.148C>T NP_005207.3:p.Leu50= NC_000001.11:20661202:G:A p.(Leu50=) NC_000001.11:20661202:G:A p.(Leu50=) NC_000001.11:20661202:G:A Identity +NM_001291860.2:c.12789C>T NP_001278789.1:p.Leu4263= NC_000001.11:21824334:G:A p.(Leu4263=) NC_000001.11:21824334:G:A p.(Leu4263=) NC_000001.11:21824334:G:A Identity +NM_002296.4:c.90C>T NP_002287.2:p.His30= NC_000001.11:225423985:G:A p.(His30=) NC_000001.11:225423985:G:A p.(His30=) NC_000001.11:225423985:G:A Identity +NM_001079821.3:c.2424C>T NP_001073289.2:p.Leu808= NC_000001.11:247434204:C:T p.(Leu808=) NC_000001.11:247434204:C:T p.(Leu808=) NC_000001.11:247434204:C:T Identity +LRG_1249t1:c.2715C>T LRG_1249p1:p.Ser905= NC_000010.11:104040396:G:A ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_005445.4:c.369C>T NP_005436.1:p.Asn123= NC_000010.11:110578645:C:T p.(Asn123=) NC_000010.11:110578645:C:T p.(Asn123=) NC_000010.11:110578645:C:T Identity +NM_002496.4:c.597C>T NP_002487.1:p.Ile199= NC_000011.10:68036556:C:T p.(Ile199=) NC_000011.10:68036556:C:T p.(Ile199=) NC_000011.10:68036556:C:T Identity +NM_002180.3:c.1290C>T NP_002171.2:p.Tyr430= NC_000011.10:68933352:C:T p.(Tyr430=) NC_000011.10:68933352:C:T p.(Tyr430=) NC_000011.10:68933352:C:T Identity +NM_002180.3:c.2355G>A NP_002171.2:p.Arg785= NC_000011.10:68936834:G:A p.(Arg785=) NC_000011.10:68936834:G:A p.(Arg785=) NC_000011.10:68936834:G:A Identity +NM_001191060.2:c.717C>T NP_001177989.1:p.Ala239= NC_000011.10:792328:G:A p.(Ala239=) NC_000011.10:792328:G:A p.(Ala239=) NC_000011.10:792328:G:A Identity +NM_001254718.3:c.3381A>G NP_001241647.1:p.Thr1127= NC_000012.12:101680497:A:G p.(Thr1127=) NC_000012.12:101680497:A:G p.(Thr1127=) NC_000012.12:101680497:A:G Identity +NM_001160708.2:c.1962A>G NP_001154180.1:p.Leu654= NC_000012.12:106454553:A:G p.(Leu654=) NC_000012.12:106454553:A:G p.(Leu654=) NC_000012.12:106454553:A:G Identity +NM_001040436.3:c.870T>C NP_001035526.1:p.Val290= NC_000012.12:32753994:A:G p.(Val290=) NC_000012.12:32753994:A:G p.(Val290=) NC_000012.12:32753994:A:G Identity +NM_001177984.3:c.4419C>T NP_001171455.1:p.Ile1473= NC_000012.12:51794387:C:T p.(Ile1473=) NC_000012.12:51794387:C:T p.(Ile1473=) NC_000012.12:51794387:C:T Identity +NM_001144996.2:c.2229C>T NP_001138468.1:p.Ser743= NC_000012.12:55694674:G:A p.(Ser743=) NC_000012.12:55694674:G:A p.(Ser743=) NC_000012.12:55694674:G:A Identity +NM_001145079.2:c.69G>A NP_001138551.1:p.Gly23= NC_000013.11:39655794:G:A p.(Gly23=) NC_000013.11:39655794:G:A p.(Gly23=) NC_000013.11:39655794:G:A Identity +NM_001024858.4:c.414T>C NP_001020029.1:p.Ile138= NC_000014.9:64803666:A:G p.(Ile138=) NC_000014.9:64803666:A:G p.(Ile138=) NC_000014.9:64803666:A:G Identity +NM_139057.4:c.1875C>T NP_620688.2:p.Ala625= NC_000015.10:100116859:G:A p.(Ala625=) NC_000015.10:100116859:G:A p.(Ala625=) NC_000015.10:100116859:G:A Identity +NM_139057.4:c.228C>G NP_620688.2:p.Pro76= NC_000015.10:100341260:G:C p.(Pro76=) NC_000015.10:100341260:G:C p.(Pro76=) NC_000015.10:100341260:G:C Identity +NM_001142275.1:c.528G>C NP_001135747.1:p.Ala176= NC_000015.10:22824001:G:C p.(Ala176=) NC_000015.10:22824001:G:C p.(Ala176=) NC_000015.10:22824001:G:C Identity +NM_144508.5:c.2949A>G NP_653091.3:p.Leu983= NC_000015.10:40623212:A:G p.(Leu983=) NC_000015.10:40623212:A:G p.(Leu983=) NC_000015.10:40623212:A:G Identity +NM_001605.3:c.2217C>T NP_001596.2:p.Ile739= NC_000016.10:70255796:G:A p.(Ile739=) NC_000016.10:70255796:G:A p.(Ile739=) NC_000016.10:70255796:G:A Identity +NM_001242366.3:c.294C>A NP_001229295.1:p.Leu98= NC_000017.11:28405402:G:T p.(Leu98=) NC_000017.11:28405402:G:T p.(Leu98=) NC_000017.11:28405402:G:T Identity +NM_001363846.2:c.1356C>A NP_001350775.1:p.Thr452= NC_000017.11:44908084:G:T p.(Thr452=) NC_000017.11:44908084:G:T p.(Thr452=) NC_000017.11:44908084:G:T Identity +NM_000334.4:c.1011T>C NP_000325.4:p.Asp337= NC_000017.11:63968047:A:G p.(Asp337=) NC_000017.11:63968047:A:G p.(Asp337=) NC_000017.11:63968047:A:G Identity +NM_001282279.2:c.261G>A NP_001269208.1:p.Glu87= NC_000017.11:81935393:C:T p.(Glu87=) NC_000017.11:81935393:C:T p.(Glu87=) NC_000017.11:81935393:C:T Identity +LRG_1150t1:c.4209G>A LRG_1150p1:p.Glu1403= NC_000018.10:45063115:G:A ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found +NM_000435.3:c.945C>T NP_000426.2:p.Ile315= NC_000019.10:15191514:G:A p.(Ile315=) NC_000019.10:15191514:G:A p.(Ile315=) NC_000019.10:15191514:G:A Identity +NM_000215.4:c.1548C>T NP_000206.2:p.Ile516= NC_000019.10:17838283:G:A p.(Ile516=) NC_000019.10:17838283:G:A p.(Ile516=) NC_000019.10:17838283:G:A Identity +NM_004646.4:c.151C>T NP_004637.1:p.Leu51= NC_000019.10:35851579:G:A p.(Leu51=) NC_000019.10:35851579:G:A p.(Leu51=) NC_000019.10:35851579:G:A Identity +NM_000400.4:c.1905G>A NP_000391.1:p.Ala635= NC_000019.10:45352646:C:T p.(Ala635=) NC_000019.10:45352646:C:T p.(Ala635=) NC_000019.10:45352646:C:T Identity +NM_000547.6:c.1857C>G NP_000538.3:p.Ala619= NC_000002.12:1493889:C:G p.(Ala619=) NC_000002.12:1493889:C:G p.(Ala619=) NC_000002.12:1493889:C:G Identity +NM_003705.5:c.1458G>A NP_003696.2:p.Ala486= NC_000002.12:171791577:C:T p.(Ala486=) NC_000002.12:171791577:C:T p.(Ala486=) NC_000002.12:171791577:C:T Identity +NM_001384880.1:c.1056T>C NP_001371809.1:p.Asn352= NC_000002.12:190987049:A:G p.(Asn352=) NC_000002.12:190987049:A:G p.(Asn352=) NC_000002.12:190987049:A:G Identity +NM_012092.4:c.597A>G NP_036224.1:p.Leu199= NC_000002.12:203959595:A:G p.(Leu199=) NC_000002.12:203959595:A:G p.(Leu199=) NC_000002.12:203959595:A:G Identity +NM_015040.4:c.2535T>C NP_055855.2:p.Ser845= NC_000002.12:208325345:T:C p.(Ser845=) NC_000002.12:208325345:T:C p.(Ser845=) NC_000002.12:208325345:T:C Identity +NM_001122633.3:c.783C>T NP_001116105.2:p.Ile261= NC_000002.12:210590176:C:T p.(Ile261=) NC_000002.12:210590176:C:T p.(Ile261=) NC_000002.12:210590176:C:T Identity +NM_001254734.2:c.816C>T NP_001241663.1:p.Gly272= NC_000020.11:2399703:C:T p.(Gly272=) NC_000020.11:2399703:C:T p.(Gly272=) NC_000020.11:2399703:C:T Identity +NM_001207055.2:c.1371G>A NP_001193984.1:p.Gln457= NC_000020.11:32798525:G:A p.(Gln457=) NC_000020.11:32798525:G:A p.(Gln457=) NC_000020.11:32798525:G:A Identity +NM_001362843.2:c.678C>G NP_001349772.1:p.Gly226= NC_000022.11:41117769:C:G p.(Gly226=) NC_000022.11:41117769:C:G p.(Gly226=) NC_000022.11:41117769:C:G Identity +NM_001362843.2:c.2709A>G NP_001349772.1:p.Ala903= NC_000022.11:41150167:A:G p.(Ala903=) NC_000022.11:41150167:A:G p.(Ala903=) NC_000022.11:41150167:A:G Identity +NM_001099952.4:c.3528G>A NP_001093422.2:p.Val1176= NC_000003.12:4684336:G:A p.(Val1176=) NC_000003.12:4684336:G:A p.(Val1176=) NC_000003.12:4684336:G:A Identity +NM_001099952.4:c.5622T>C NP_001093422.2:p.Asp1874= NC_000003.12:4768550:T:C p.(Asp1874=) NC_000003.12:4768550:T:C p.(Asp1874=) NC_000003.12:4768550:T:C Identity +NM_001168407.2:c.945A>G NP_001161879.1:p.Glu315= NC_000006.12:72251070:A:G p.(Glu315=) NC_000006.12:72251070:A:G p.(Glu315=) NC_000006.12:72251070:A:G Identity +NM_001316772.1:c.603G>A NP_001303701.1:p.Ala201= NC_000007.14:30609613:G:A p.(Ala201=) NC_000007.14:30609613:G:A p.(Ala201=) NC_000007.14:30609613:G:A Identity +NM_001346898.2:c.525C>T NP_001333827.1:p.Asn175= NC_000007.14:55146705:C:T p.(Asn175=) NC_000007.14:55146705:C:T p.(Asn175=) NC_000007.14:55146705:C:T Identity +NM_017890.5:c.10830C>T NP_060360.3:p.Asp3610= NC_000008.11:99854143:C:T p.(Asp3610=) NC_000008.11:99854143:C:T p.(Asp3610=) NC_000008.11:99854143:C:T Identity +NM_001005373.4:c.1746G>A NP_001005373.1:p.Ser582= NC_000009.12:127496010:G:A p.(Ser582=) NC_000009.12:127496010:G:A p.(Ser582=) NC_000009.12:127496010:G:A Identity +NM_000118.4:c.909C>T NP_000109.1:p.Ala303= NC_000009.12:127824881:G:A p.(Ala303=) NC_000009.12:127824881:G:A p.(Ala303=) NC_000009.12:127824881:G:A Identity +NM_000459.5:c.2838C>T NP_000450.3:p.Ala946= NC_000009.12:27212857:C:T p.(Ala946=) NC_000009.12:27212857:C:T p.(Ala946=) NC_000009.12:27212857:C:T Identity +NM_001256054.3:c.1404C>T NP_001242983.1:p.Phe468= NC_000009.12:27548277:G:A p.(Phe468=) NC_000009.12:27548277:G:A p.(Phe468=) NC_000009.12:27548277:G:A Identity +NM_004170.6:c.633C>T NP_004161.4:p.Asn211= NC_000009.12:4572253:C:T p.(Asn211=) NC_000009.12:4572253:C:T p.(Asn211=) NC_000009.12:4572253:C:T Identity +NM_000264.5:c.4152G>A NP_000255.2:p.Pro1384= NC_000009.12:95447103:C:T p.(Pro1384=) NC_000009.12:95447103:C:T p.(Pro1384=) NC_000009.12:95447103:C:T Identity +NM_178857.6:c.4725G>A NP_849188.4:p.Glu1575= NC_000008.11:10609372:C:T p.(Glu1575=) NC_000008.11:10609372:C:T p.(Glu1575=) NC_000008.11:10609372:C:T Identity +NM_001365819.1:c.3768C>T NP_001352748.1:p.Tyr1256= NC_000022.11:50459315:G:A p.(Tyr1256=) NC_000022.11:50459315:G:A p.(Tyr1256=) NC_000022.11:50459315:G:A Identity +NM_001177984.3:c.2691T>C NP_001171455.1:p.Phe897= NC_000012.12:51765816:T:C p.(Phe897=) NC_000012.12:51765816:T:C p.(Phe897=) NC_000012.12:51765816:T:C Identity +NM_001005373.4:c.1027C>T NP_001005373.1:p.Leu343= NC_000009.12:127479961:C:T p.(Leu343=) NC_000009.12:127479961:C:T p.(Leu343=) NC_000009.12:127479961:C:T Identity +NM_001204404.2:c.2616A>G NP_001191333.1:p.Lys872= NC_000010.11:60145968:T:C p.(Lys872=) NC_000010.11:60145968:T:C p.(Lys872=) NC_000010.11:60145968:T:C Identity +NM_001171.6:c.2904G>A NP_001162.5:p.Leu968= NC_000016.10:16169736:C:T p.(Leu968=) NC_000016.10:16169736:C:T p.(Leu968=) NC_000016.10:16169736:C:T Identity +NM_001040113.2:c.3552G>A NP_001035202.1:p.Thr1184= NC_000016.10:15732683:C:T p.(Thr1184=) NC_000016.10:15732683:C:T p.(Thr1184=) NC_000016.10:15732683:C:T Identity +NM_000920.4:c.2325G>A NP_000911.2:p.Thr775= NC_000011.10:66850821:C:T p.(Thr775=) NC_000011.10:66850821:C:T p.(Thr775=) NC_000011.10:66850821:C:T Identity +NM_007254.4:c.1281C>T NP_009185.2:p.Asp427= NC_000019.10:49861788:G:A p.(Asp427=) NC_000019.10:49861788:G:A p.(Asp427=) NC_000019.10:49861788:G:A Identity +NM_005506.4:c.402A>G NP_005497.1:p.Arg134= NC_000004.12:76180974:T:C p.(Arg134=) NC_000004.12:76180974:T:C p.(Arg134=) NC_000004.12:76180974:T:C Identity +NM_001256850.1:c.31098A>G NP_001243779.1:p.Lys10366= NC_000002.12:178689098:T:C p.(Lys10366=) NC_000002.12:178689098:T:C p.(Lys10366=) NC_000002.12:178689098:T:C Identity +NM_001256850.1:c.89670G>A NP_001243779.1:p.Ala29890= NC_000002.12:178546834:C:T p.(Ala29890=) NC_000002.12:178546834:C:T p.(Ala29890=) NC_000002.12:178546834:C:T Identity +NM_001177984.3:c.3150T>G NP_001171455.1:p.Gly1050= NC_000012.12:51769112:T:G p.(Gly1050=) NC_000012.12:51769112:T:G p.(Gly1050=) NC_000012.12:51769112:T:G Identity +NM_001098.3:c.2127C>T NP_001089.1:p.Phe709= NC_000022.11:41527940:C:T p.(Phe709=) NC_000022.11:41527940:C:T p.(Phe709=) NC_000022.11:41527940:C:T Identity +NM_001142555.3:c.996C>T NP_001136027.1:p.Phe332= NC_000019.10:40700090:G:A p.(Phe332=) NC_000019.10:40700090:G:A p.(Phe332=) NC_000019.10:40700090:G:A Identity +NM_001171.6:c.396A>G NP_001162.5:p.Ser132= NC_000016.10:16219631:T:C p.(Ser132=) NC_000016.10:16219631:T:C p.(Ser132=) NC_000016.10:16219631:T:C Identity +NM_014362.4:c.214C>T NP_055177.2:p.Leu72= NC_000002.12:190296817:G:A p.(Leu72=) NC_000002.12:190296817:G:A p.(Leu72=) NC_000002.12:190296817:G:A Identity +NM_006393.3:c.792G>A NP_006384.1:p.Ala264= NC_000010.11:20859718:C:T p.(Ala264=) NC_000010.11:20859718:C:T p.(Ala264=) NC_000010.11:20859718:C:T Identity +NM_000191.3:c.393A>G NP_000182.2:p.Ser131= NC_000001.11:23814293:T:C p.(Ser131=) NC_000001.11:23814293:T:C p.(Ser131=) NC_000001.11:23814293:T:C Identity +NM_024678.6:c.174A>G NP_078954.4:p.Glu58= NC_000011.10:78571411:T:C p.(Glu58=) NC_000011.10:78571411:T:C p.(Glu58=) NC_000011.10:78571411:T:C Identity +NM_001165963.4:c.4632C>T NP_001159435.1:p.Asp1544= NC_000002.12:165994365:G:A p.(Asp1544=) NC_000002.12:165994365:G:A p.(Asp1544=) NC_000002.12:165994365:G:A Identity +NM_000813.3:c.747A>T NP_000804.1:p.Thr249= NC_000005.10:161334836:T:A p.(Thr249=) NC_000005.10:161334836:T:A p.(Thr249=) NC_000005.10:161334836:T:A Identity +NM_001256849.1:c.1863C>T NP_001243778.1:p.Leu621= NC_000019.10:50408871:C:T p.(Leu621=) NC_000019.10:50408871:C:T p.(Leu621=) NC_000019.10:50408871:C:T Identity +NM_004518.6:c.792C>T NP_004509.2:p.Tyr264= NC_000020.11:63442429:G:A p.(Tyr264=) NC_000020.11:63442429:G:A p.(Tyr264=) NC_000020.11:63442429:G:A Identity +NM_001291285.3:c.6219A>G NP_001278214.1:p.Gln2073= NC_000004.12:125415181:A:G p.(Gln2073=) NC_000004.12:125415181:A:G p.(Gln2073=) NC_000004.12:125415181:A:G Identity +NM_000540.3:c.7830C>T NP_000531.2:p.Leu2610= NC_000019.10:38502721:C:T p.(Leu2610=) NC_000019.10:38502721:C:T p.(Leu2610=) NC_000019.10:38502721:C:T Identity +LRG_1226t1:c.12C>G LRG_1226p1:p.Gly4= NC_000002.12:74465235:G:C ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_001271.4:c.1773A>G NP_001262.3:p.Ala591= NC_000015.10:92955475:A:G p.(Ala591=) NC_000015.10:92955475:A:G p.(Ala591=) NC_000015.10:92955475:A:G Identity +NM_006612.6:c.1365C>T NP_006603.2:p.Asn455= NC_000017.11:5007291:C:T p.(Asn455=) NC_000017.11:5007291:C:T p.(Asn455=) NC_000017.11:5007291:C:T Identity +NM_001376.5:c.1173A>G NP_001367.2:p.Gln391= NC_000014.9:101983229:A:G p.(Gln391=) NC_000014.9:101983229:A:G p.(Gln391=) NC_000014.9:101983229:A:G Identity +NM_001164507.2:c.6615C>G NP_001157979.2:p.Arg2205= NC_000002.12:151655903:G:C p.(Arg2205=) NC_000002.12:151655903:G:C p.(Arg2205=) NC_000002.12:151655903:G:C Identity +NM_001272003.2:c.2283G>A NP_001258932.1:p.Ser761= NC_000009.12:135777405:G:A p.(Ser761=) NC_000009.12:135777405:G:A p.(Ser761=) NC_000009.12:135777405:G:A Identity +NM_001368263.1:c.1989G>T NP_001355192.1:p.Arg663= NC_000003.12:45516220:G:T p.(Arg663=) NC_000003.12:45516220:G:T p.(Arg663=) NC_000003.12:45516220:G:T Identity +NM_001367624.2:c.6489G>A NP_001354553.1:p.Gln2163= NC_000016.10:88433958:G:A p.(Gln2163=) NC_000016.10:88433958:G:A p.(Gln2163=) NC_000016.10:88433958:G:A Identity +NM_000068.4:c.2049C>T NP_000059.3:p.Gly683= NC_000019.10:13303824:G:A p.(Gly683=) NC_000019.10:13303824:G:A p.(Gly683=) NC_000019.10:13303824:G:A Identity +NM_001256849.1:c.3204C>T NP_001243778.1:p.Asp1068= NC_000019.10:50417254:C:T p.(Asp1068=) NC_000019.10:50417254:C:T p.(Asp1068=) NC_000019.10:50417254:C:T Identity +NM_001272003.2:c.828G>A NP_001258932.1:p.Thr276= NC_000009.12:135759786:G:A p.(Thr276=) NC_000009.12:135759786:G:A p.(Thr276=) NC_000009.12:135759786:G:A Identity +NM_001177984.3:c.4995T>C NP_001171455.1:p.Gly1665= NC_000012.12:51806603:T:C p.(Gly1665=) NC_000012.12:51806603:T:C p.(Gly1665=) NC_000012.12:51806603:T:C Identity +NM_001136193.2:c.1389C>T NP_001129665.1:p.Tyr463= NC_000002.12:206774358:C:T p.(Tyr463=) NC_000002.12:206774358:C:T p.(Tyr463=) NC_000002.12:206774358:C:T Identity +NM_138395.4:c.801G>C NP_612404.1:p.Pro267= NC_000002.12:197706205:G:C p.(Pro267=) NC_000002.12:197706205:G:C p.(Pro267=) NC_000002.12:197706205:G:C Identity +NM_001305275.2:c.4131C>T NP_001292204.1:p.Phe1377= NC_000001.11:1048891:C:T p.(Phe1377=) NC_000001.11:1048891:C:T p.(Phe1377=) NC_000001.11:1048891:C:T Identity +NM_001204087.2:c.200AGC[20] NP_001191016.1:p.Gln75_Gln80dup NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG p.(Gln75_Gln80dup) NC_000001.11:154869764:T:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_025099.6:c.2508C>G NP_079375.3:p.Ser836= NC_000017.11:8231436:G:C p.(Ser836=) NC_000017.11:8231436:G:C p.(Ser836=) NC_000017.11:8231436:G:C Identity +NM_025014.2:c.1827A>G NP_079290.1:p.Glu609= NC_000017.11:8318616:A:G p.(Glu609=) NC_000017.11:8318616:A:G p.(Glu609=) NC_000017.11:8318616:A:G Identity +NM_000553.6:c.1989G>A NP_000544.2:p.Thr663= NC_000008.11:31100855:G:A p.(Thr663=) NC_000008.11:31100855:G:A p.(Thr663=) NC_000008.11:31100855:G:A Identity +NM_001256850.1:c.91068C>T NP_001243779.1:p.Ser30356= NC_000002.12:178544237:G:A p.(Ser30356=) NC_000002.12:178544237:G:A p.(Ser30356=) NC_000002.12:178544237:G:A Identity +NM_000238.4:c.3228C>T NP_000229.1:p.Pro1076= NC_000007.14:150946978:G:A p.(Pro1076=) NC_000007.14:150946978:G:A p.(Pro1076=) NC_000007.14:150946978:G:A Identity +NM_025219.3:c.561C>T NP_079495.1:p.Asp187= NC_000020.11:63931531:C:T p.(Asp187=) NC_000020.11:63931531:C:T p.(Asp187=) NC_000020.11:63931531:C:T Identity +NM_000378.6:c.1131C>T NP_000369.4:p.Arg377= NC_000011.10:32396338:G:A p.(Arg377=) NC_000011.10:32396338:G:A p.(Arg377=) NC_000011.10:32396338:G:A Identity +NM_000378.6:c.1353C>T NP_000369.4:p.Ser451= NC_000011.10:32392014:G:A p.(Ser451=) NC_000011.10:32392014:G:A p.(Ser451=) NC_000011.10:32392014:G:A Identity +NM_001106.4:c.1269G>A NP_001097.2:p.Ser423= NC_000003.12:38482484:G:A p.(Ser423=) NC_000003.12:38482484:G:A p.(Ser423=) NC_000003.12:38482484:G:A Identity +NM_004958.4:c.6624T>C NP_004949.1:p.Leu2208= NC_000001.11:11124535:A:G p.(Leu2208=) NC_000001.11:11124535:A:G p.(Leu2208=) NC_000001.11:11124535:A:G Identity +NM_001128844.3:c.4677C>T NP_001122316.1:p.Ser1559= NC_000019.10:11059793:C:T p.(Ser1559=) NC_000019.10:11059793:C:T p.(Ser1559=) NC_000019.10:11059793:C:T Identity +NM_001270459.2:c.627C>T NP_001257388.1:p.Tyr209= NC_000001.11:43899609:C:T p.(Tyr209=) NC_000001.11:43899609:C:T p.(Tyr209=) NC_000001.11:43899609:C:T Identity +NM_001257281.2:c.1203C>T NP_001244210.1:p.Asp401= NC_000002.12:232210403:C:T p.(Asp401=) NC_000002.12:232210403:C:T p.(Asp401=) NC_000002.12:232210403:C:T Identity +NM_001346599.2:c.1416A>G NP_001333528.1:p.Leu472= NC_000007.14:105555205:A:G p.(Leu472=) NC_000007.14:105555205:A:G p.(Leu472=) NC_000007.14:105555205:A:G Identity +NM_000020.3:c.1122G>T NP_000011.2:p.Arg374= NC_000012.12:51916108:G:T p.(Arg374=) NC_000012.12:51916108:G:T p.(Arg374=) NC_000012.12:51916108:G:T Identity +NM_000038.6:c.7696A>C NP_000029.2:p.Arg2566= NC_000005.10:112843289:A:C p.(Arg2566=) NC_000005.10:112843289:A:C p.(Arg2566=) NC_000005.10:112843289:A:C Identity +NM_001195573.1:c.1827C>T NP_001182502.1:p.Asp609= NC_000014.9:95115746:G:A p.(Asp609=) NC_000014.9:95115746:G:A p.(Asp609=) NC_000014.9:95115746:G:A Identity +NM_000720.4:c.2310C>A NP_000711.1:p.Ile770= NC_000003.12:53730469:C:A p.(Ile770=) NC_000003.12:53730469:C:A p.(Ile770=) NC_000003.12:53730469:C:A Identity +NM_001014797.3:c.123C>A NP_001014797.1:p.Ser41= NC_000010.11:77637519:G:T p.(Ser41=) NC_000010.11:77637519:G:T p.(Ser41=) NC_000010.11:77637519:G:T Identity +NM_152722.5:c.1176G>A NP_689935.2:p.Ser392= NC_000011.10:124921212:C:T p.(Ser392=) NC_000011.10:124921212:C:T p.(Ser392=) NC_000011.10:124921212:C:T Identity +NM_000833.5:c.1404C>T NP_000824.1:p.Ser468= NC_000016.10:9841028:G:A p.(Ser468=) NC_000016.10:9841028:G:A p.(Ser468=) NC_000016.10:9841028:G:A Identity +NM_000253.4:c.2673C>T NP_000244.2:p.Ser891= NC_000004.12:99622835:C:T p.(Ser891=) NC_000004.12:99622835:C:T p.(Ser891=) NC_000004.12:99622835:C:T Identity +NM_001165963.4:c.4476G>A NP_001159435.1:p.Lys1492= NC_000002.12:165998037:C:T p.(Lys1492=) NC_000002.12:165998037:C:T p.(Lys1492=) NC_000002.12:165998037:C:T Identity +NM_000296.4:c.8118C>T NP_000287.4:p.Thr2706= NC_000016.10:2104540:G:A p.(Thr2706=) NC_000016.10:2104540:G:A p.(Thr2706=) NC_000016.10:2104540:G:A Identity +NM_001371656.1:c.1303GGC[4] NP_001358585.1:p.Gly439_Gly440del NC_000006.12:156778982:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGC p.(Gly439_Gly440del) NC_000006.12:156778982:G:GGCGGCGGCGGC ERR:Parse ERR:Parse Identity +NM_001173482.1:c.57_65del NP_001166953.1:p.Leu20_Pro22del NC_000003.12:3179622:GGCAGGAGCGGCAGG:GGCAGG p.(Leu20_Pro22del) NC_000003.12:3179622:GGCAGGAGCGGCAGG:GGCAGG p.(Leu20_Pro22del) NC_000003.12:3179622:GGCAGGAGC: Identity +NM_001130066.2:c.2622C>T NP_001123538.1:p.Ala874= NC_000006.12:33443215:C:T p.(Ala874=) NC_000006.12:33443215:C:T p.(Ala874=) NC_000006.12:33443215:C:T Identity +NM_001160103.2:c.744T>C NP_001153575.1:p.Asp248= NC_000014.9:88572889:T:C p.(Asp248=) NC_000014.9:88572889:T:C p.(Asp248=) NC_000014.9:88572889:T:C Identity +NM_001313726.2:c.2151C>A NP_001300655.1:p.Ile717= NC_000011.10:26634297:C:A p.(Ile717=) NC_000011.10:26634297:C:A p.(Ile717=) NC_000011.10:26634297:C:A Identity +NM_001079846.1:c.7011C>T NP_001073315.1:p.His2337= NC_000016.10:3727921:G:A p.(His2337=) NC_000016.10:3727921:G:A p.(His2337=) NC_000016.10:3727921:G:A Identity +NM_001367830.1:c.906G>C NP_001354759.1:p.Ser302= NC_000019.10:11245679:C:G p.(Ser302=) NC_000019.10:11245679:C:G p.(Ser302=) NC_000019.10:11245679:C:G Identity +NM_001136052.3:c.822C>T NP_001129524.1:p.Arg274= NC_000019.10:49705089:C:T p.(Arg274=) NC_000019.10:49705089:C:T p.(Arg274=) NC_000019.10:49705089:C:T Identity +NM_001007188.4:c.1290C>T NP_001007189.1:p.Pro430= NC_000022.11:31809612:C:T p.(Pro430=) NC_000022.11:31809612:C:T p.(Pro430=) NC_000022.11:31809612:C:T Identity +NM_001164317.2:c.5313C>T NP_001157789.1:p.Asn1771= NC_000003.12:58142687:C:T p.(Asn1771=) NC_000003.12:58142687:C:T p.(Asn1771=) NC_000003.12:58142687:C:T Identity +NM_000168.6:c.3351G>A NP_000159.3:p.Pro1117= NC_000007.14:41965721:C:T p.(Pro1117=) NC_000007.14:41965721:C:T p.(Pro1117=) NC_000007.14:41965721:C:T Identity +NM_001128227.3:c.594C>T NP_001121699.1:p.His198= NC_000009.12:36246145:G:A p.(His198=) NC_000009.12:36246145:G:A p.(His198=) NC_000009.12:36246145:G:A Identity +NM_003172.4:c.313_321del NP_003163.1:p.Leu105_Ala107del NC_000009.12:133354660:GGCTGGCAG: p.(Leu105_Ala107del) NC_000009.12:133354660:GGCTGGCAG: p.(Leu105_Ala107del) NC_000009.12:133354660:GGCTGGCAG: Identity +NM_004667.6:c.1083C>T NP_004658.3:p.His361= NC_000015.10:28272214:G:A p.(His361=) NC_000015.10:28272214:G:A p.(His361=) NC_000015.10:28272214:G:A Identity +NM_001080414.4:c.4707G>A NP_001073883.2:p.Arg1569= NC_000014.9:91279298:C:T p.(Arg1569=) NC_000014.9:91279298:C:T p.(Arg1569=) NC_000014.9:91279298:C:T Identity +NM_022114.4:c.2508C>T NP_071397.3:p.Gly836= NC_000001.11:3412704:C:T p.(Gly836=) NC_000001.11:3412704:C:T p.(Gly836=) NC_000001.11:3412704:C:T Identity +NM_001165963.4:c.5855_5857del NP_001159435.1:p.Asn1952_Leu1953delinsIle NC_000002.12:165991417:GAT: p.(Asn1952_Leu1953delinsIle) NC_000002.12:165991417:GAT: p.(Asn1952_Leu1953delinsIle) NC_000002.12:165991417:GAT: Identity +NM_000057.4:c.2106T>A NP_000048.1:p.Pro702= NC_000015.10:90765326:T:A p.(Pro702=) NC_000015.10:90765326:T:A p.(Pro702=) NC_000015.10:90765326:T:A Identity +NM_000088.4:c.3726C>T NP_000079.2:p.Ile1242= NC_000017.11:50186727:G:A p.(Ile1242=) NC_000017.11:50186727:G:A p.(Ile1242=) NC_000017.11:50186727:G:A Identity +NM_000218.3:c.858C>T NP_000209.2:p.Asp286= NC_000011.10:2572922:C:T p.(Asp286=) NC_000011.10:2572922:C:T p.(Asp286=) NC_000011.10:2572922:C:T Identity +NM_024110.4:c.2859G>A NP_077015.2:p.Ala953= NC_000017.11:80208188:G:A p.(Ala953=) NC_000017.11:80208188:G:A p.(Ala953=) NC_000017.11:80208188:G:A Identity +LRG_1323t1:c.1095G>T LRG_1323p1:p.Val365= NC_000002.12:47005950:G:T ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000222.3:c.1831T>C NP_000213.1:p.Leu611= NC_000004.12:54727878:T:C p.(Leu611=) NC_000004.12:54727878:T:C p.(Leu611=) NC_000004.12:54727878:T:C Identity +NM_000282.4:c.1896A>G NP_000273.2:p.Thr632= NC_000013.11:100449301:A:G p.(Thr632=) NC_000013.11:100449301:A:G p.(Thr632=) NC_000013.11:100449301:A:G Identity +NM_001005407.2:c.2881C>T NP_001005407.1:p.Leu961= NC_000016.10:1207091:C:T p.(Leu961=) NC_000016.10:1207091:C:T p.(Leu961=) NC_000016.10:1207091:C:T Identity +NM_001005407.2:c.6699C>T NP_001005407.1:p.Gly2233= NC_000016.10:1220648:C:T p.(Gly2233=) NC_000016.10:1220648:C:T p.(Gly2233=) NC_000016.10:1220648:C:T Identity +NM_001005407.2:c.819C>T NP_001005407.1:p.Thr273= NC_000016.10:1200270:C:T p.(Thr273=) NC_000016.10:1200270:C:T p.(Thr273=) NC_000016.10:1200270:C:T Identity +NM_000098.3:c.1602G>A NP_000089.1:p.Glu534= NC_000001.11:53211275:G:A p.(Glu534=) NC_000001.11:53211275:G:A p.(Glu534=) NC_000001.11:53211275:G:A Identity +NM_001165963.4:c.2651_2656del NP_001159435.1:p.Gly884_Ser886delinsAla NC_000002.12:166038065:AATTGC: p.(Gly884_Ser886delinsAla) NC_000002.12:166038065:AATTGC: p.(Gly884_Ser886delinsAla) NC_000002.12:166038065:AATTGC: Identity +NM_001165963.4:c.4209T>C NP_001159435.1:p.Asn1403= NC_000002.12:166002546:A:G p.(Asn1403=) NC_000002.12:166002546:A:G p.(Asn1403=) NC_000002.12:166002546:A:G Identity +NM_001005505.3:c.1437G>A NP_001005505.1:p.Glu479= NC_000003.12:50378049:C:T p.(Glu479=) NC_000003.12:50378049:C:T p.(Glu479=) NC_000003.12:50378049:C:T Identity +NM_021072.4:c.1710C>T NP_066550.2:p.Asn570= NC_000005.10:45267161:G:A p.(Asn570=) NC_000005.10:45267161:G:A p.(Asn570=) NC_000005.10:45267161:G:A Identity +NM_004518.6:c.1914G>A NP_004509.2:p.Pro638= NC_000020.11:63407264:C:T p.(Pro638=) NC_000020.11:63407264:C:T p.(Pro638=) NC_000020.11:63407264:C:T Identity +NM_025014.2:c.2388G>T NP_079290.1:p.Gly796= NC_000017.11:8320854:G:T p.(Gly796=) NC_000017.11:8320854:G:T p.(Gly796=) NC_000017.11:8320854:G:T Identity +NM_000211.5:c.1542C>T NP_000202.3:p.Cys514= NC_000021.9:44890092:G:A p.(Cys514=) NC_000021.9:44890092:G:A p.(Cys514=) NC_000021.9:44890092:G:A Identity +NM_001036.6:c.11196G>A NP_001027.3:p.Thr3732= NC_000015.10:33826702:G:A p.(Thr3732=) NC_000015.10:33826702:G:A p.(Thr3732=) NC_000015.10:33826702:G:A Identity +NM_000388.4:c.939G>A NP_000379.3:p.Val313= NC_000003.12:122261973:G:A p.(Val313=) NC_000003.12:122261973:G:A p.(Val313=) NC_000003.12:122261973:G:A Identity +NM_015335.5:c.5316G>A NP_056150.1:p.Thr1772= NC_000012.12:115980797:C:T p.(Thr1772=) NC_000012.12:115980797:C:T p.(Thr1772=) NC_000012.12:115980797:C:T Identity +NM_001048171.2:c.888G>A NP_001041636.2:p.Ser296= NC_000001.11:45332047:C:T p.(Ser296=) NC_000001.11:45332047:C:T p.(Ser296=) NC_000001.11:45332047:C:T Identity +NM_001160227.2:c.3486T>C NP_001153699.1:p.Phe1162= NC_000015.10:44606058:A:G p.(Phe1162=) NC_000015.10:44606058:A:G p.(Phe1162=) NC_000015.10:44606058:A:G Identity +NM_001256850.1:c.13551A>G NP_001243779.1:p.Ala4517= NC_000002.12:178735943:T:C p.(Ala4517=) NC_000002.12:178735943:T:C p.(Ala4517=) NC_000002.12:178735943:T:C Identity +NM_001128844.3:c.1908C>T NP_001122316.1:p.Ala636= NC_000019.10:11003123:C:T p.(Ala636=) NC_000019.10:11003123:C:T p.(Ala636=) NC_000019.10:11003123:C:T Identity +NM_001184985.2:c.6322_6330del NP_001171914.1:p.Thr2108_Ser2110del NC_000012.12:894591:CAACTAGTTCA:CA p.(Thr2108_Ser2110del) NC_000012.12:894591:CAACTAGTTCA:CA p.(Thr2108_Ser2110del) NC_000012.12:894593:ACTAGTTCA: Identity +NM_001294332.2:c.1266C>T NP_001281261.1:p.Ser422= NC_000005.10:236576:C:T p.(Ser422=) NC_000005.10:236576:C:T p.(Ser422=) NC_000005.10:236576:C:T Identity +NM_004656.4:c.1725G>A NP_004647.1:p.Leu575= NC_000003.12:52403419:C:T p.(Leu575=) NC_000003.12:52403419:C:T p.(Leu575=) NC_000003.12:52403419:C:T Identity +NM_000313.4:c.1713A>G NP_000304.2:p.Gln571= NC_000003.12:93877122:T:C p.(Gln571=) NC_000003.12:93877122:T:C p.(Gln571=) NC_000003.12:93877122:T:C Identity +NM_001283009.2:c.3412C>A NP_001269938.1:p.Arg1138= NC_000020.11:63695133:C:A p.(Arg1138=) NC_000020.11:63695133:C:A p.(Arg1138=) NC_000020.11:63695133:C:A Identity +NM_001042594.2:c.420C>T NP_001036059.1:p.Tyr140= NC_000007.14:124853027:G:A p.(Tyr140=) NC_000007.14:124853027:G:A p.(Tyr140=) NC_000007.14:124853027:G:A Identity +NM_001348250.2:c.999C>T NP_001335179.1:p.Phe333= NC_000003.12:11026279:C:T p.(Phe333=) NC_000003.12:11026279:C:T p.(Phe333=) NC_000003.12:11026279:C:T Identity +NM_001349370.3:c.7032C>T NP_001336299.1:p.Thr2344= NC_000003.12:47042634:G:A p.(Thr2344=) NC_000003.12:47042634:G:A p.(Thr2344=) NC_000003.12:47042634:G:A Identity +NM_001317799.2:c.1128G>A NP_001304728.1:p.Glu376= NC_000004.12:122934721:G:A p.(Glu376=) NC_000004.12:122934721:G:A p.(Glu376=) NC_000004.12:122934721:G:A Identity +NM_006939.4:c.2604C>T NP_008870.2:p.Gly868= NC_000014.9:50145232:G:A p.(Gly868=) NC_000014.9:50145232:G:A p.(Gly868=) NC_000014.9:50145232:G:A Identity +NM_004370.6:c.132A>G NP_004361.3:p.Ser44= NC_000006.12:75194888:T:C p.(Ser44=) NC_000006.12:75194888:T:C p.(Ser44=) NC_000006.12:75194888:T:C Identity +NM_004370.6:c.8622A>G NP_004361.3:p.Pro2874= NC_000006.12:75095134:T:C p.(Pro2874=) NC_000006.12:75095134:T:C p.(Pro2874=) NC_000006.12:75095134:T:C Identity +NM_015384.5:c.4245A>C NP_056199.2:p.Ser1415= NC_000005.10:37008012:A:C p.(Ser1415=) NC_000005.10:37008012:A:C p.(Ser1415=) NC_000005.10:37008012:A:C Identity +LRG_1341t1:c.1902T>C LRG_1341p1:p.Val634= NC_000013.11:102638303:T:C ERR:Data provider error: ValueError: Transcript LRG_1341t1 not found ERR:Data provider error: ValueError: Transcript LRG_1341t1 not found ERR:AlignmentMapper(tx_ac=LRG_1341t1, alt_ac=LRG_1341t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1341t1, alt_ac=LRG_1341t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1341t1 not found +NM_015512.5:c.6558T>G NP_056327.4:p.Ala2186= NC_000003.12:52371977:T:G p.(Ala2186=) NC_000003.12:52371977:T:G p.(Ala2186=) NC_000003.12:52371977:T:G Identity +NM_001330347.2:c.1191T>C NP_001317276.1:p.His397= NC_000011.10:94464146:A:G p.(His397=) NC_000011.10:94464146:A:G p.(His397=) NC_000011.10:94464146:A:G Identity +NM_000059.4:c.7524C>T NP_000050.3:p.Gly2508= NC_000013.11:32356515:C:T p.(Gly2508=) NC_000013.11:32356515:C:T p.(Gly2508=) NC_000013.11:32356515:C:T Identity +NM_001256849.1:c.3288G>T NP_001243778.1:p.Leu1096= NC_000019.10:50417910:G:T p.(Leu1096=) NC_000019.10:50417910:G:T p.(Leu1096=) NC_000019.10:50417910:G:T Identity +NM_000384.3:c.13020T>C NP_000375.3:p.Tyr4340= NC_000002.12:21002401:A:G p.(Tyr4340=) NC_000002.12:21002401:A:G p.(Tyr4340=) NC_000002.12:21002401:A:G Identity +NM_000059.4:c.7083T>C NP_000050.3:p.His2361= NC_000013.11:32354935:T:C p.(His2361=) NC_000013.11:32354935:T:C p.(His2361=) NC_000013.11:32354935:T:C Identity +NM_001126113.3:c.1035G>A NP_001119585.1:p.Ser345= NC_000017.11:7673224:C:T p.(Ser345=) NC_000017.11:7673224:C:T p.(Ser345=) NC_000017.11:7673224:C:T Identity +NM_032409.3:c.675G>A NP_115785.1:p.Ser225= NC_000001.11:20638128:G:A p.(Ser225=) NC_000001.11:20638128:G:A p.(Ser225=) NC_000001.11:20638128:G:A Identity +NM_001008781.3:c.5391G>A NP_001008781.2:p.Val1797= NC_000011.10:92798403:G:A p.(Val1797=) NC_000011.10:92798403:G:A p.(Val1797=) NC_000011.10:92798403:G:A Identity +NM_000540.3:c.408G>A NP_000531.2:p.Leu136= NC_000019.10:38443779:G:A p.(Leu136=) NC_000019.10:38443779:G:A p.(Leu136=) NC_000019.10:38443779:G:A Identity +NM_006579.3:c.219G>A NP_006570.1:p.Gly73= NC_000023.11:48523989:G:A p.(Gly73=) NC_000023.11:48523989:G:A p.(Gly73=) NC_000023.11:48523989:G:A Identity +NM_000383.4:c.63C>T NP_000374.1:p.Ala21= NC_000021.9:44286068:C:T p.(Ala21=) NC_000021.9:44286068:C:T p.(Ala21=) NC_000021.9:44286068:C:T Identity +NM_001244008.2:c.2721GGA[12] NP_001230937.1:p.Glu917dup NC_000002.12:240757423:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC p.(Glu917dup) NC_000002.12:240757455:C:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC ERR:Parse ERR:Parse Identity +NM_001130438.3:c.7395C>T NP_001123910.1:p.Phe2465= NC_000009.12:128633294:C:T p.(Phe2465=) NC_000009.12:128633294:C:T p.(Phe2465=) NC_000009.12:128633294:C:T Identity +NM_000445.5:c.6738C>T NP_000436.2:p.Ala2246= NC_000008.11:143923271:G:A p.(Ala2246=) NC_000008.11:143923271:G:A p.(Ala2246=) NC_000008.11:143923271:G:A Identity +NM_004369.4:c.1080C>T NP_004360.2:p.Asp360= NC_000002.12:237387813:G:A p.(Asp360=) NC_000002.12:237387813:G:A p.(Asp360=) NC_000002.12:237387813:G:A Identity +NM_001256850.1:c.88206C>T NP_001243779.1:p.Asp29402= NC_000002.12:178548496:G:A p.(Asp29402=) NC_000002.12:178548496:G:A p.(Asp29402=) NC_000002.12:178548496:G:A Identity +NM_005881.4:c.1185C>T NP_005872.2:p.Asp395= NC_000016.10:31112210:C:T p.(Asp395=) NC_000016.10:31112210:C:T p.(Asp395=) NC_000016.10:31112210:C:T Identity +NM_001145288.2:c.1428C>T NP_001138760.1:p.Asp476= NC_000012.12:100419966:C:T p.(Asp476=) NC_000012.12:100419966:C:T p.(Asp476=) NC_000012.12:100419966:C:T Identity +NM_001879.6:c.1143T>C NP_001870.3:p.Ser381= NC_000003.12:187243568:A:G p.(Ser381=) NC_000003.12:187243568:A:G p.(Ser381=) NC_000003.12:187243568:A:G Identity +NM_001100112.2:c.1959G>A NP_001093582.1:p.Val653= NC_000017.11:10536544:C:T p.(Val653=) NC_000017.11:10536544:C:T p.(Val653=) NC_000017.11:10536544:C:T Identity +NM_001127897.4:c.1701C>A NP_001121369.1:p.Ala567= NC_000016.10:53652985:G:T p.(Ala567=) NC_000016.10:53652985:G:T p.(Ala567=) NC_000016.10:53652985:G:T Identity +NM_001163817.2:c.288C>T NP_001157289.1:p.Ala96= NC_000011.10:71444025:G:A p.(Ala96=) NC_000011.10:71444025:G:A p.(Ala96=) NC_000011.10:71444025:G:A Identity +NM_001277971.2:c.1023C>T NP_001264900.1:p.Ala341= NC_000008.11:43122846:C:T p.(Ala341=) NC_000008.11:43122846:C:T p.(Ala341=) NC_000008.11:43122846:C:T Identity +NM_001130438.3:c.7128C>T NP_001123910.1:p.Phe2376= NC_000009.12:128632685:C:T p.(Phe2376=) NC_000009.12:128632685:C:T p.(Phe2376=) NC_000009.12:128632685:C:T Identity +NM_000280.6:c.423C>G NP_000271.1:p.Gly141= NC_000011.10:31800790:G:C p.(Gly141=) NC_000011.10:31800790:G:C p.(Gly141=) NC_000011.10:31800790:G:C Identity +NM_000540.3:c.14538G>C NP_000531.2:p.Ala4846= NC_000019.10:38580395:G:C p.(Ala4846=) NC_000019.10:38580395:G:C p.(Ala4846=) NC_000019.10:38580395:G:C Identity +NM_000183.3:c.900C>T NP_000174.1:p.Tyr300= NC_000002.12:26280081:C:T p.(Tyr300=) NC_000002.12:26280081:C:T p.(Tyr300=) NC_000002.12:26280081:C:T Identity +NM_001111125.3:c.2952A>C NP_001104595.1:p.Pro984= NC_000023.11:53241846:T:G p.(Pro984=) NC_000023.11:53241846:T:G p.(Pro984=) NC_000023.11:53241846:T:G Identity +NM_001101426.4:c.645A>G NP_001094896.1:p.Gln215= NC_000007.14:16376130:T:C p.(Gln215=) NC_000007.14:16376130:T:C p.(Gln215=) NC_000007.14:16376130:T:C Identity +NM_001291285.3:c.14385G>A NP_001278214.1:p.Arg4795= NC_000004.12:125491203:G:A p.(Arg4795=) NC_000004.12:125491203:G:A p.(Arg4795=) NC_000004.12:125491203:G:A Identity +NM_001272003.2:c.3432C>T NP_001258932.1:p.Asp1144= NC_000009.12:135791797:C:T p.(Asp1144=) NC_000009.12:135791797:C:T p.(Asp1144=) NC_000009.12:135791797:C:T Identity +NM_000445.5:c.12366G>A NP_000436.2:p.Thr4122= NC_000008.11:143917535:C:T p.(Thr4122=) NC_000008.11:143917535:C:T p.(Thr4122=) NC_000008.11:143917535:C:T Identity +NM_001190709.2:c.1998A>G NP_001177638.1:p.Gln666= NC_000001.11:103001951:T:C p.(Gln666=) NC_000001.11:103001951:T:C p.(Gln666=) NC_000001.11:103001951:T:C Identity +NM_001256850.1:c.36270G>A NP_001243779.1:p.Lys12090= NC_000002.12:178636533:C:T p.(Lys12090=) NC_000002.12:178636533:C:T p.(Lys12090=) NC_000002.12:178636533:C:T Identity +NM_006767.4:c.2247C>T NP_006758.2:p.Tyr749= NC_000022.11:20996722:C:T p.(Tyr749=) NC_000022.11:20996722:C:T p.(Tyr749=) NC_000022.11:20996722:C:T Identity +NM_001244008.2:c.5250C>T NP_001230937.1:p.Arg1750= NC_000002.12:240718132:G:A p.(Arg1750=) NC_000002.12:240718132:G:A p.(Arg1750=) NC_000002.12:240718132:G:A Identity +NM_006767.4:c.1530C>T NP_006758.2:p.His510= NC_000022.11:20994183:C:T p.(His510=) NC_000022.11:20994183:C:T p.(His510=) NC_000022.11:20994183:C:T Identity +NM_000151.4:c.909C>T NP_000142.2:p.Leu303= NC_000017.11:42911260:C:T p.(Leu303=) NC_000017.11:42911260:C:T p.(Leu303=) NC_000017.11:42911260:C:T Identity +NM_001143905.2:c.468A>G NP_001137377.1:p.Lys156= NC_000012.12:123256997:A:G p.(Lys156=) NC_000012.12:123256997:A:G p.(Lys156=) NC_000012.12:123256997:A:G Identity +NM_001166292.2:c.2184C>T NP_001159764.1:p.Ser728= NC_000001.11:44827588:G:A p.(Ser728=) NC_000001.11:44827588:G:A p.(Ser728=) NC_000001.11:44827588:G:A Identity +NM_032444.4:c.4716G>A NP_115820.2:p.Pro1572= NC_000016.10:3584791:C:T p.(Pro1572=) NC_000016.10:3584791:C:T p.(Pro1572=) NC_000016.10:3584791:C:T Identity +NM_005120.3:c.2136C>T NP_005111.2:p.Pro712= NC_000023.11:71125055:C:T p.(Pro712=) NC_000023.11:71125055:C:T p.(Pro712=) NC_000023.11:71125055:C:T Identity +NM_000222.3:c.2577T>C NP_000213.1:p.Leu859= NC_000004.12:54736589:T:C p.(Leu859=) NC_000004.12:54736589:T:C p.(Leu859=) NC_000004.12:54736589:T:C Identity +NM_015243.3:c.2472C>T NP_056058.2:p.Ser824= NC_000008.11:99193013:C:T p.(Ser824=) NC_000008.11:99193013:C:T p.(Ser824=) NC_000008.11:99193013:C:T Identity +NM_004260.4:c.2499C>T NP_004251.4:p.His833= NC_000008.11:144513102:G:A p.(His833=) NC_000008.11:144513102:G:A p.(His833=) NC_000008.11:144513102:G:A Identity +NM_001178129.2:c.1500A>G NP_001171600.1:p.Arg500= NC_000007.14:83387037:T:C p.(Arg500=) NC_000007.14:83387037:T:C p.(Arg500=) NC_000007.14:83387037:T:C Identity +NM_000093.5:c.999C>T NP_000084.3:p.Val333= NC_000009.12:134730309:C:T p.(Val333=) NC_000009.12:134730309:C:T p.(Val333=) NC_000009.12:134730309:C:T Identity +NM_001005505.3:c.3099G>A NP_001005505.1:p.Arg1033= NC_000003.12:50365183:C:T p.(Arg1033=) NC_000003.12:50365183:C:T p.(Arg1033=) NC_000003.12:50365183:C:T Identity +NM_001177984.3:c.4620C>T NP_001171455.1:p.Phe1540= NC_000012.12:51794588:C:T p.(Phe1540=) NC_000012.12:51794588:C:T p.(Phe1540=) NC_000012.12:51794588:C:T Identity +NM_004518.6:c.2175C>T NP_004509.2:p.Ser725= NC_000020.11:63407003:G:A p.(Ser725=) NC_000020.11:63407003:G:A p.(Ser725=) NC_000020.11:63407003:G:A Identity +NM_001130438.3:c.5689C>T NP_001123910.1:p.Leu1897= NC_000009.12:128618958:C:T p.(Leu1897=) NC_000009.12:128618958:C:T p.(Leu1897=) NC_000009.12:128618958:C:T Identity +NM_139318.5:c.1887C>T NP_647479.2:p.Asn629= NC_000014.9:62779859:G:A p.(Asn629=) NC_000014.9:62779859:G:A p.(Asn629=) NC_000014.9:62779859:G:A Identity +NM_139318.5:c.2532C>T NP_647479.2:p.Pro844= NC_000014.9:62707942:G:A p.(Pro844=) NC_000014.9:62707942:G:A p.(Pro844=) NC_000014.9:62707942:G:A Identity +NM_001165963.4:c.720G>C NP_001159435.1:p.Leu240= NC_000002.12:166051962:C:G p.(Leu240=) NC_000002.12:166051962:C:G p.(Leu240=) NC_000002.12:166051962:C:G Identity +NM_004501.3:c.2109A>C NP_004492.2:p.Gly703= NC_000001.11:244855904:T:G p.(Gly703=) NC_000001.11:244855904:T:G p.(Gly703=) NC_000001.11:244855904:T:G Identity +NM_002838.5:c.1704A>G NP_002829.3:p.Leu568= NC_000001.11:198722459:A:G p.(Leu568=) NC_000001.11:198722459:A:G p.(Leu568=) NC_000001.11:198722459:A:G Identity +NM_001363813.1:c.1095G>A NP_001350742.1:p.Val365= NC_000017.11:65538307:C:T p.(Val365=) NC_000017.11:65538307:C:T p.(Val365=) NC_000017.11:65538307:C:T Identity +NM_001101.5:c.198C>T NP_001092.1:p.Thr66= NC_000007.14:5529325:G:A p.(Thr66=) NC_000007.14:5529325:G:A p.(Thr66=) NC_000007.14:5529325:G:A Identity +NM_001190458.2:c.4710G>A NP_001177387.1:p.Ala1570= NC_000009.12:434905:G:A p.(Ala1570=) NC_000009.12:434905:G:A p.(Ala1570=) NC_000009.12:434905:G:A Identity +NM_001079821.3:c.900C>T NP_001073289.2:p.Asp300= NC_000001.11:247424348:C:T p.(Asp300=) NC_000001.11:247424348:C:T p.(Asp300=) NC_000001.11:247424348:C:T Identity +NM_001453.3:c.1189C>T NP_001444.2:p.Leu397= NC_000006.12:1611633:C:T p.(Leu397=) NC_000006.12:1611633:C:T p.(Leu397=) NC_000006.12:1611633:C:T Identity +NM_001130823.3:c.1911C>T NP_001124295.1:p.Thr637= NC_000019.10:10154400:G:A p.(Thr637=) NC_000019.10:10154400:G:A p.(Thr637=) NC_000019.10:10154400:G:A Identity +NM_018206.6:c.945A>T NP_060676.2:p.Gly315= NC_000016.10:46674629:T:A p.(Gly315=) NC_000016.10:46674629:T:A p.(Gly315=) NC_000016.10:46674629:T:A Identity +NM_001382.4:c.330C>T NP_001373.2:p.Phe110= NC_000011.10:119100795:G:A p.(Phe110=) NC_000011.10:119100795:G:A p.(Phe110=) NC_000011.10:119100795:G:A Identity +NM_021942.6:c.1344C>T NP_068761.4:p.Cys448= NC_000004.12:183684200:C:T p.(Cys448=) NC_000004.12:183684200:C:T p.(Cys448=) NC_000004.12:183684200:C:T Identity +NM_014704.4:c.1884G>T NP_055519.1:p.Thr628= NC_000001.11:3829949:C:A p.(Thr628=) NC_000001.11:3829949:C:A p.(Thr628=) NC_000001.11:3829949:C:A Identity +NM_000742.4:c.735C>T NP_000733.2:p.Tyr245= NC_000008.11:27463707:G:A p.(Tyr245=) NC_000008.11:27463707:G:A p.(Tyr245=) NC_000008.11:27463707:G:A Identity +NM_000334.4:c.2340C>T NP_000325.4:p.Thr780= NC_000017.11:63957197:G:A p.(Thr780=) NC_000017.11:63957197:G:A p.(Thr780=) NC_000017.11:63957197:G:A Identity +NM_001127487.2:c.7506G>A NP_001120959.1:p.Ser2502= NC_000007.14:128857160:G:A p.(Ser2502=) NC_000007.14:128857160:G:A p.(Ser2502=) NC_000007.14:128857160:G:A Identity +NM_001294332.2:c.1191G>A NP_001281261.1:p.Ser397= NC_000005.10:236501:G:A p.(Ser397=) NC_000005.10:236501:G:A p.(Ser397=) NC_000005.10:236501:G:A Identity +NM_001194937.2:c.357A>G NP_001181866.1:p.Thr119= NC_000001.11:151430767:T:C p.(Thr119=) NC_000001.11:151430767:T:C p.(Thr119=) NC_000001.11:151430767:T:C Identity +NM_001270521.2:c.2529C>A NP_001257450.1:p.Leu843= NC_000006.12:131598364:G:T p.(Leu843=) NC_000006.12:131598364:G:T p.(Leu843=) NC_000006.12:131598364:G:T Identity +NM_001177984.3:c.3705T>C NP_001171455.1:p.Ala1235= NC_000012.12:51774247:T:C p.(Ala1235=) NC_000012.12:51774247:T:C p.(Ala1235=) NC_000012.12:51774247:T:C Identity +NM_030665.4:c.4980G>T NP_109590.3:p.Pro1660= NC_000017.11:17797927:G:T p.(Pro1660=) NC_000017.11:17797927:G:T p.(Pro1660=) NC_000017.11:17797927:G:T Identity +NM_001193455.2:c.2070C>T NP_001180384.1:p.Thr690= NC_000005.10:6600054:G:A p.(Thr690=) NC_000005.10:6600054:G:A p.(Thr690=) NC_000005.10:6600054:G:A Identity +NM_001321193.3:c.90A>C NP_001308122.1:p.Ile30= NC_000003.12:177053886:T:G p.(Ile30=) NC_000003.12:177053886:T:G p.(Ile30=) NC_000003.12:177053886:T:G Identity +NM_001177984.3:c.4776C>T NP_001171455.1:p.Gly1592= NC_000012.12:51806384:C:T p.(Gly1592=) NC_000012.12:51806384:C:T p.(Gly1592=) NC_000012.12:51806384:C:T Identity +NM_020988.3:c.678C>T NP_066268.1:p.Val226= NC_000016.10:56336814:C:T p.(Val226=) NC_000016.10:56336814:C:T p.(Val226=) NC_000016.10:56336814:C:T Identity +NM_000540.3:c.4848G>A NP_000531.2:p.Thr1616= NC_000019.10:38483429:G:A p.(Thr1616=) NC_000019.10:38483429:G:A p.(Thr1616=) NC_000019.10:38483429:G:A Identity +NM_004518.6:c.921G>A NP_004509.2:p.Leu307= NC_000020.11:63439603:C:T p.(Leu307=) NC_000020.11:63439603:C:T p.(Leu307=) NC_000020.11:63439603:C:T Identity +NM_000523.4:c.183_191del NP_000514.2:p.Ala69_Ala71del NC_000002.12:176093064:GCGGCGGCAGCGGCGGC:GCGGCGGC p.(Ala69_Ala71del) NC_000002.12:176093064:GCGGCGGCAGCGGCGGC:GCGGCGGC p.(Ala69_Ala71del) NC_000002.12:176093072:AGCGGCGGC: Identity +NM_025193.4:c.558G>A NP_079469.2:p.Thr186= NC_000016.10:30986865:G:A p.(Thr186=) NC_000016.10:30986865:G:A p.(Thr186=) NC_000016.10:30986865:G:A Identity +NM_000718.4:c.4848C>T NP_000709.1:p.Ile1616= NC_000009.12:138074056:C:T p.(Ile1616=) NC_000009.12:138074056:C:T p.(Ile1616=) NC_000009.12:138074056:C:T Identity +NM_000280.6:c.943T>C NP_000271.1:p.Leu315= NC_000011.10:31793526:A:G p.(Leu315=) NC_000011.10:31793526:A:G p.(Leu315=) NC_000011.10:31793526:A:G Identity +NM_001122955.4:c.132T>A NP_001116427.1:p.Gly44= NC_000011.10:62705572:A:T p.(Gly44=) NC_000011.10:62705572:A:T p.(Gly44=) NC_000011.10:62705572:A:T Identity +NM_001171.6:c.1284C>T NP_001162.5:p.Asn428= NC_000016.10:16198074:G:A p.(Asn428=) NC_000016.10:16198074:G:A p.(Asn428=) NC_000016.10:16198074:G:A Identity +NM_001135659.3:c.1671_1675del NP_001129131.1:p.Ile557_Leu558insTer NC_000002.12:50552790:ATAAGAT:AT p.(Leu558Ter) NC_000002.12:50552790:ATAAGAT:AT p.(Leu558Ter) NC_000002.12:50552790:ATAAG: Analogous +NM_019098.5:c.2158CAAAAAGAAAATGAAGATAAA[1] NP_061971.3:p.720QKENEDK[1] NC_000008.11:86576034:TTTATCTTCATTTTCTTTTTGTTTATCTTCATTTTCTTTTTGTTTATCTTCATTTTCTTTT:TTTATCTTCATTTTCTTTTTGTTTATCTTCATTTTCTTTT p.(Gln727_Lys733del) NC_000008.11:86576075:G:TTTATCTTCATTTTCTTTTTG ERR:Parse ERR:Parse Analogous +NM_000218.3:c.1767C>T NP_000209.2:p.Gly589= NC_000011.10:2778009:C:T p.(Gly589=) NC_000011.10:2778009:C:T p.(Gly589=) NC_000011.10:2778009:C:T Identity +NM_001191060.2:c.342C>T NP_001177989.1:p.Gly114= NC_000011.10:792939:G:A p.(Gly114=) NC_000011.10:792939:G:A p.(Gly114=) NC_000011.10:792939:G:A Identity +LRG_1327t1:c.1296G>T LRG_1327p1:p.Gly432= NC_000003.12:53186638:G:T ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_001376.5:c.609G>A NP_001367.2:p.Pro203= NC_000014.9:101979808:G:A p.(Pro203=) NC_000014.9:101979808:G:A p.(Pro203=) NC_000014.9:101979808:G:A Identity +NM_001098802.3:c.1569C>T NP_001092272.1:p.Gly523= NC_000009.12:78264256:C:T p.(Gly523=) NC_000009.12:78264256:C:T p.(Gly523=) NC_000009.12:78264256:C:T Identity +NM_001080976.3:c.216G>A NP_001074445.1:p.Thr72= NC_000006.12:116399465:G:A p.(Thr72=) NC_000006.12:116399465:G:A p.(Thr72=) NC_000006.12:116399465:G:A Identity +NM_133259.4:c.4077C>T NP_573566.2:p.Tyr1359= NC_000002.12:43889784:G:A p.(Tyr1359=) NC_000002.12:43889784:G:A p.(Tyr1359=) NC_000002.12:43889784:G:A Identity +NM_000068.4:c.4452C>T NP_000059.3:p.Pro1484= NC_000019.10:13257499:G:A p.(Pro1484=) NC_000019.10:13257499:G:A p.(Pro1484=) NC_000019.10:13257499:G:A Identity +NM_001605.3:c.342A>C NP_001596.2:p.Ala114= NC_000016.10:70276622:T:G p.(Ala114=) NC_000016.10:70276622:T:G p.(Ala114=) NC_000016.10:70276622:T:G Identity +NM_001130438.3:c.3834C>T NP_001123910.1:p.Phe1278= NC_000009.12:128605147:C:T p.(Phe1278=) NC_000009.12:128605147:C:T p.(Phe1278=) NC_000009.12:128605147:C:T Identity +NM_015335.5:c.4989G>A NP_056150.1:p.Thr1663= NC_000012.12:115982569:C:T p.(Thr1663=) NC_000012.12:115982569:C:T p.(Thr1663=) NC_000012.12:115982569:C:T Identity +NM_001286074.2:c.4698G>A NP_001273003.2:p.Arg1566= NC_000023.11:71424182:G:A p.(Arg1566=) NC_000023.11:71424182:G:A p.(Arg1566=) NC_000023.11:71424182:G:A Identity +NM_001174063.2:c.177C>T NP_001167534.1:p.Asp59= NC_000008.11:38429862:G:A p.(Asp59=) NC_000008.11:38429862:G:A p.(Asp59=) NC_000008.11:38429862:G:A Identity +NM_001166292.2:c.1506C>G NP_001159764.1:p.Val502= NC_000001.11:44828589:G:C p.(Val502=) NC_000001.11:44828589:G:C p.(Val502=) NC_000001.11:44828589:G:C Identity +NM_001365999.1:c.5142C>T NP_001352928.1:p.Ile1714= NC_000001.11:43431768:C:T p.(Ile1714=) NC_000001.11:43431768:C:T p.(Ile1714=) NC_000001.11:43431768:C:T Identity +NM_001278055.2:c.9567A>G NP_001264984.1:p.Lys3189= NC_000013.11:23333867:T:C p.(Lys3189=) NC_000013.11:23333867:T:C p.(Lys3189=) NC_000013.11:23333867:T:C Identity +NM_001164821.2:c.192A>G NP_001158293.1:p.Gly64= NC_000002.12:171435147:A:G p.(Gly64=) NC_000002.12:171435147:A:G p.(Gly64=) NC_000002.12:171435147:A:G Identity +NM_001365999.1:c.8316G>A NP_001352928.1:p.Thr2772= NC_000001.11:43442982:G:A p.(Thr2772=) NC_000001.11:43442982:G:A p.(Thr2772=) NC_000001.11:43442982:G:A Identity +NM_001376.5:c.7437C>T NP_001367.2:p.Phe2479= NC_000014.9:102016049:C:T p.(Phe2479=) NC_000014.9:102016049:C:T p.(Phe2479=) NC_000014.9:102016049:C:T Identity +NM_015335.5:c.4593C>T NP_056150.1:p.Thr1531= NC_000012.12:115983478:G:A p.(Thr1531=) NC_000012.12:115983478:G:A p.(Thr1531=) NC_000012.12:115983478:G:A Identity +NM_000540.3:c.8442G>A NP_000531.2:p.Lys2814= NC_000019.10:38505846:G:A p.(Lys2814=) NC_000019.10:38505846:G:A p.(Lys2814=) NC_000019.10:38505846:G:A Identity +NM_001177984.3:c.1692C>T NP_001171455.1:p.Ser564= NC_000012.12:51721601:C:T p.(Ser564=) NC_000012.12:51721601:C:T p.(Ser564=) NC_000012.12:51721601:C:T Identity +NM_000425.5:c.33C>T NP_000416.1:p.Leu11= NC_000023.11:153875803:G:A p.(Leu11=) NC_000023.11:153875803:G:A p.(Leu11=) NC_000023.11:153875803:G:A Identity +NM_021072.4:c.159C>T NP_066550.2:p.His53= NC_000005.10:45695934:G:A p.(His53=) NC_000005.10:45695934:G:A p.(His53=) NC_000005.10:45695934:G:A Identity +NM_001160147.2:c.882C>T NP_001153619.1:p.Asp294= NC_000014.9:53103812:G:A p.(Asp294=) NC_000014.9:53103812:G:A p.(Asp294=) NC_000014.9:53103812:G:A Identity +NM_001203247.2:c.1968A>G NP_001190176.1:p.Lys656= NC_000007.14:148810378:T:C p.(Lys656=) NC_000007.14:148810378:T:C p.(Lys656=) NC_000007.14:148810378:T:C Identity +NM_001005505.3:c.3327C>T NP_001005505.1:p.Ala1109= NC_000003.12:50364776:G:A p.(Ala1109=) NC_000003.12:50364776:G:A p.(Ala1109=) NC_000003.12:50364776:G:A Identity +NM_001142805.2:c.537C>T NP_001136277.1:p.Pro179= NC_000023.11:153691445:C:T p.(Pro179=) NC_000023.11:153691445:C:T p.(Pro179=) NC_000023.11:153691445:C:T Identity +NM_001110792.2:c.633C>G NP_001104262.1:p.Pro211= NC_000023.11:154031230:G:C p.(Pro211=) NC_000023.11:154031230:G:C p.(Pro211=) NC_000023.11:154031230:G:C Identity +NM_001172631.3:c.3087G>A NP_001166102.1:p.Thr1029= NC_000014.9:102449639:G:A p.(Thr1029=) NC_000014.9:102449639:G:A p.(Thr1029=) NC_000014.9:102449639:G:A Identity +NM_001160227.2:c.5461A>C NP_001153699.1:p.Arg1821= NC_000015.10:44584218:T:G p.(Arg1821=) NC_000015.10:44584218:T:G p.(Arg1821=) NC_000015.10:44584218:T:G Identity +NM_021072.4:c.546A>G NP_066550.2:p.Ser182= NC_000005.10:45645487:T:C p.(Ser182=) NC_000005.10:45645487:T:C p.(Ser182=) NC_000005.10:45645487:T:C Identity +NM_001178133.2:c.573C>T NP_001171604.1:p.Pro191= NC_000010.11:102592699:C:T p.(Pro191=) NC_000010.11:102592699:C:T p.(Pro191=) NC_000010.11:102592699:C:T Identity +NM_021072.4:c.252C>T NP_066550.2:p.Ala84= NC_000005.10:45695841:G:A p.(Ala84=) NC_000005.10:45695841:G:A p.(Ala84=) NC_000005.10:45695841:G:A Identity +NM_022725.4:c.234G>A NP_073562.1:p.Pro78= NC_000011.10:22625576:C:T p.(Pro78=) NC_000011.10:22625576:C:T p.(Pro78=) NC_000011.10:22625576:C:T Identity +NM_001316690.1:c.1053A>G NP_001303619.1:p.Val351= NC_000008.11:60742484:A:G p.(Val351=) NC_000008.11:60742484:A:G p.(Val351=) NC_000008.11:60742484:A:G Identity +NM_001166111.2:c.4104G>A NP_001159583.1:p.Pro1368= NC_000019.10:7561537:G:A p.(Pro1368=) NC_000019.10:7561537:G:A p.(Pro1368=) NC_000019.10:7561537:G:A Identity +NM_002144.4:c.702G>A NP_002135.2:p.Val234= NC_000017.11:48529750:C:T p.(Val234=) NC_000017.11:48529750:C:T p.(Val234=) NC_000017.11:48529750:C:T Identity +NM_001127892.2:c.157AGC[13] NP_001121364.1:p.Ser60_Ser62dup NC_000016.10:51141744:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT p.(Ser60_Ser62dup) NC_000016.10:51141773:T:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_000445.5:c.13224C>T NP_000436.2:p.Tyr4408= NC_000008.11:143916677:G:A p.(Tyr4408=) NC_000008.11:143916677:G:A p.(Tyr4408=) NC_000008.11:143916677:G:A Identity +NM_004076.5:c.6G>A NP_004067.1:p.Ala2= NC_000022.11:25201401:G:A p.(Ala2=) NC_000022.11:25201401:G:A p.(Ala2=) NC_000022.11:25201401:G:A Identity +NM_001199216.2:c.1761G>A NP_001186145.1:p.Thr587= NC_000019.10:35313408:G:A p.(Thr587=) NC_000019.10:35313408:G:A p.(Thr587=) NC_000019.10:35313408:G:A Identity +NM_022168.4:c.2295C>A NP_071451.2:p.Pro765= NC_000002.12:162276695:G:T p.(Pro765=) NC_000002.12:162276695:G:T p.(Pro765=) NC_000002.12:162276695:G:T Identity +NM_019056.7:c.360G>A NP_061929.2:p.Ala120= NC_000023.11:47142591:C:T p.(Ala120=) NC_000023.11:47142591:C:T p.(Ala120=) NC_000023.11:47142591:C:T Identity +NM_001362949.2:c.2001C>T NP_001349878.1:p.Cys667= NC_000022.11:33277131:G:A p.(Cys667=) NC_000022.11:33277131:G:A p.(Cys667=) NC_000022.11:33277131:G:A Identity +NM_000445.5:c.11382G>A NP_000436.2:p.Ala3794= NC_000008.11:143918519:C:T p.(Ala3794=) NC_000008.11:143918519:C:T p.(Ala3794=) NC_000008.11:143918519:C:T Identity +NM_001320867.2:c.150G>C NP_001307796.1:p.Leu50= NC_000019.10:43526590:C:G p.(Leu50=) NC_000019.10:43526590:C:G p.(Leu50=) NC_000019.10:43526590:C:G Identity +NM_000048.4:c.1029C>T NP_000039.2:p.Leu343= NC_000007.14:66089661:C:T p.(Leu343=) NC_000007.14:66089661:C:T p.(Leu343=) NC_000007.14:66089661:C:T Identity +NM_001141973.3:c.1614T>A NP_001135445.1:p.Pro538= NC_000001.11:16993748:A:T p.(Pro538=) NC_000001.11:16993748:A:T p.(Pro538=) NC_000001.11:16993748:A:T Identity +NM_139125.4:c.1959C>T NP_624302.1:p.Tyr653= NC_000003.12:187235911:G:A p.(Tyr653=) NC_000003.12:187235911:G:A p.(Tyr653=) NC_000003.12:187235911:G:A Identity +NM_006767.4:c.1377C>T NP_006758.2:p.His459= NC_000022.11:20993946:C:T p.(His459=) NC_000022.11:20993946:C:T p.(His459=) NC_000022.11:20993946:C:T Identity +NM_001127487.2:c.6105T>C NP_001120959.1:p.Asn2035= NC_000007.14:128853026:T:C p.(Asn2035=) NC_000007.14:128853026:T:C p.(Asn2035=) NC_000007.14:128853026:T:C Identity +NM_013254.4:c.135C>T NP_037386.1:p.Phe45= NC_000012.12:64460235:C:T p.(Phe45=) NC_000012.12:64460235:C:T p.(Phe45=) NC_000012.12:64460235:C:T Identity +NM_052876.4:c.1386C>T NP_443108.1:p.Asp462= NC_000019.10:13138207:C:T p.(Asp462=) NC_000019.10:13138207:C:T p.(Asp462=) NC_000019.10:13138207:C:T Identity +NM_001256876.3:c.804C>T NP_001243805.1:p.Ala268= NC_000009.12:711569:C:T p.(Ala268=) NC_000009.12:711569:C:T p.(Ala268=) NC_000009.12:711569:C:T Identity +NM_006295.3:c.858C>T NP_006286.1:p.Pro286= NC_000006.12:31792229:G:A p.(Pro286=) NC_000006.12:31792229:G:A p.(Pro286=) NC_000006.12:31792229:G:A Identity +NM_000426.4:c.243G>T NP_000417.3:p.Pro81= NC_000006.12:129050047:G:T p.(Pro81=) NC_000006.12:129050047:G:T p.(Pro81=) NC_000006.12:129050047:G:T Identity +NM_001160302.2:c.2172T>C NP_001153774.1:p.Tyr724= NC_000021.9:32665044:A:G p.(Tyr724=) NC_000021.9:32665044:A:G p.(Tyr724=) NC_000021.9:32665044:A:G Identity +NM_020223.4:c.6G>A NP_064608.2:p.Lys2= NC_000007.14:193204:G:A p.(Lys2=) NC_000007.14:193204:G:A p.(Lys2=) NC_000007.14:193204:G:A Identity +NM_000844.4:c.561T>C NP_000835.1:p.Ser187= NC_000003.12:7146492:T:C p.(Ser187=) NC_000003.12:7146492:T:C p.(Ser187=) NC_000003.12:7146492:T:C Identity +NM_014008.5:c.1350G>A NP_054727.1:p.Leu450= NC_000023.11:49248652:G:A p.(Leu450=) NC_000023.11:49248652:G:A p.(Leu450=) NC_000023.11:49248652:G:A Identity +NM_001166136.2:c.3492G>A NP_001159608.1:p.Leu1164= NC_000004.12:5563042:C:T p.(Leu1164=) NC_000004.12:5563042:C:T p.(Leu1164=) NC_000004.12:5563042:C:T Identity +NM_001081640.2:c.11337C>T NP_001075109.1:p.Ser3779= NC_000008.11:47782436:G:A p.(Ser3779=) NC_000008.11:47782436:G:A p.(Ser3779=) NC_000008.11:47782436:G:A Identity +NM_003325.4:c.609G>A NP_003316.3:p.Thr203= NC_000022.11:19396831:C:T p.(Thr203=) NC_000022.11:19396831:C:T p.(Thr203=) NC_000022.11:19396831:C:T Identity +NM_000342.4:c.2184C>T NP_000333.1:p.Thr728= NC_000017.11:44253244:G:A p.(Thr728=) NC_000017.11:44253244:G:A p.(Thr728=) NC_000017.11:44253244:G:A Identity +NM_001198868.2:c.519G>A NP_001185797.1:p.Gly173= NC_000011.10:65185978:G:A p.(Gly173=) NC_000011.10:65185978:G:A p.(Gly173=) NC_000011.10:65185978:G:A Identity +NM_001316327.2:c.693C>T NP_001303256.1:p.His231= NC_000003.12:53183486:C:T p.(His231=) NC_000003.12:53183486:C:T p.(His231=) NC_000003.12:53183486:C:T Identity +NM_000037.4:c.1467G>A NP_000028.3:p.Leu489= NC_000008.11:41715786:C:T p.(Leu489=) NC_000008.11:41715786:C:T p.(Leu489=) NC_000008.11:41715786:C:T Identity +NM_007050.6:c.645T>A NP_008981.4:p.Ala215= NC_000020.11:42771473:A:T p.(Ala215=) NC_000020.11:42771473:A:T p.(Ala215=) NC_000020.11:42771473:A:T Identity +NM_003922.4:c.6159C>T NP_003913.3:p.His2053= NC_000015.10:63686424:G:A p.(His2053=) NC_000015.10:63686424:G:A p.(His2053=) NC_000015.10:63686424:G:A Identity +NM_001330990.2:c.969C>T NP_001317919.1:p.Pro323= NC_000003.12:47845812:C:T p.(Pro323=) NC_000003.12:47845812:C:T p.(Pro323=) NC_000003.12:47845812:C:T Identity +NM_001001329.3:c.939GGA[7] NP_001001329.1:p.Glu323_Glu325del NC_000019.10:11447525:GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA:GAGGAGGAGGAGGAGGAGGAGGA p.(Glu323_Glu325del) NC_000019.10:11447527:G:GGAGGAGGAGGAGGAGGAGGA ERR:Parse ERR:Parse Identity +NM_015267.4:c.81C>T NP_056082.2:p.Val27= NC_000012.12:111214216:C:T p.(Val27=) NC_000012.12:111214216:C:T p.(Val27=) NC_000012.12:111214216:C:T Identity +NM_000259.3:c.2067C>G NP_000250.3:p.Thr689= NC_000015.10:52379853:G:C p.(Thr689=) NC_000015.10:52379853:G:C p.(Thr689=) NC_000015.10:52379853:G:C Identity +NM_001142864.4:c.627A>G NP_001136336.2:p.Ala209= NC_000016.10:88738574:T:C p.(Ala209=) NC_000016.10:88738574:T:C p.(Ala209=) NC_000016.10:88738574:T:C Identity +NM_001321120.2:c.159C>T NP_001308049.1:p.Asp53= NC_000017.11:61456648:C:T p.(Asp53=) NC_000017.11:61456648:C:T p.(Asp53=) NC_000017.11:61456648:C:T Identity +NM_004523.4:c.2775G>A NP_004514.2:p.Thr925= NC_000010.11:92649838:G:A p.(Thr925=) NC_000010.11:92649838:G:A p.(Thr925=) NC_000010.11:92649838:G:A Identity +NM_001349370.3:c.3843A>G NP_001336299.1:p.Gly1281= NC_000003.12:47120660:T:C p.(Gly1281=) NC_000003.12:47120660:T:C p.(Gly1281=) NC_000003.12:47120660:T:C Identity +NM_001199649.2:c.2814C>T NP_001186578.1:p.Tyr938= NC_000008.11:140668358:G:A p.(Tyr938=) NC_000008.11:140668358:G:A p.(Tyr938=) NC_000008.11:140668358:G:A Identity +NM_001306079.2:c.1083A>G NP_001293008.1:p.Thr361= NC_000002.12:27224003:A:G p.(Thr361=) NC_000002.12:27224003:A:G p.(Thr361=) NC_000002.12:27224003:A:G Identity +NM_001316327.2:c.105G>A NP_001303256.1:p.Ala35= NC_000003.12:53178526:G:A p.(Ala35=) NC_000003.12:53178526:G:A p.(Ala35=) NC_000003.12:53178526:G:A Identity +NM_001003698.4:c.1713C>G NP_001003698.1:p.Pro571= NC_000006.12:7229811:C:G p.(Pro571=) NC_000006.12:7229811:C:G p.(Pro571=) NC_000006.12:7229811:C:G Identity +NM_002332.3:c.8262C>T NP_002323.2:p.Asp2754= NC_000012.12:57195054:C:T p.(Asp2754=) NC_000012.12:57195054:C:T p.(Asp2754=) NC_000012.12:57195054:C:T Identity +NM_001206999.2:c.651C>T NP_001193928.1:p.Tyr217= NC_000012.12:119834093:G:A p.(Tyr217=) NC_000012.12:119834093:G:A p.(Tyr217=) NC_000012.12:119834093:G:A Identity +NM_001281301.2:c.369A>G NP_001268230.1:p.Leu123= NC_000015.10:69423293:A:G p.(Leu123=) NC_000015.10:69423293:A:G p.(Leu123=) NC_000015.10:69423293:A:G Identity +NM_001167749.3:c.3306C>T NP_001161221.1:p.Tyr1102= NC_000001.11:167824840:G:A p.(Tyr1102=) NC_000001.11:167824840:G:A p.(Tyr1102=) NC_000001.11:167824840:G:A Identity +NM_000388.4:c.2292G>C NP_000379.3:p.Thr764= NC_000003.12:122284245:G:C p.(Thr764=) NC_000003.12:122284245:G:C p.(Thr764=) NC_000003.12:122284245:G:C Identity +NM_024652.6:c.1932G>C NP_078928.3:p.Val644= NC_000015.10:101022461:G:C p.(Val644=) NC_000015.10:101022461:G:C p.(Val644=) NC_000015.10:101022461:G:C Identity +NM_018557.3:c.12360G>A NP_061027.2:p.Arg4120= NC_000002.12:140324046:C:T p.(Arg4120=) NC_000002.12:140324046:C:T p.(Arg4120=) NC_000002.12:140324046:C:T Identity +NM_001282983.2:c.21A>C NP_001269912.1:p.Thr7= NC_000002.12:241373127:A:C p.(Thr7=) NC_000002.12:241373127:A:C p.(Thr7=) NC_000002.12:241373127:A:C Identity +NM_001197293.3:c.792C>T NP_001184222.1:p.His264= NC_000008.11:26624305:C:T p.(His264=) NC_000008.11:26624305:C:T p.(His264=) NC_000008.11:26624305:C:T Identity +NM_001199144.2:c.8460G>A NP_001186073.1:p.Pro2820= NC_000002.12:167250517:G:A p.(Pro2820=) NC_000002.12:167250517:G:A p.(Pro2820=) NC_000002.12:167250517:G:A Identity +NM_015512.5:c.2715T>C NP_056327.4:p.Asp905= NC_000003.12:52350575:T:C p.(Asp905=) NC_000003.12:52350575:T:C p.(Asp905=) NC_000003.12:52350575:T:C Identity +NM_000237.3:c.345A>C NP_000228.1:p.Ser115= NC_000008.11:19951863:A:C p.(Ser115=) NC_000008.11:19951863:A:C p.(Ser115=) NC_000008.11:19951863:A:C Identity +NM_001305792.1:c.720A>G NP_001292721.1:p.Arg240= NC_000001.11:200600462:T:C p.(Arg240=) NC_000001.11:200600462:T:C p.(Arg240=) NC_000001.11:200600462:T:C Identity +NM_001039803.3:c.219C>T NP_001034892.1:p.His73= NC_000009.12:87971305:G:A p.(His73=) NC_000009.12:87971305:G:A p.(His73=) NC_000009.12:87971305:G:A Identity +NM_001197104.2:c.11592C>T NP_001184033.1:p.Asn3864= NC_000011.10:118521365:C:T p.(Asn3864=) NC_000011.10:118521365:C:T p.(Asn3864=) NC_000011.10:118521365:C:T Identity +NM_014727.3:c.5187C>T NP_055542.1:p.Asn1729= NC_000019.10:35730451:C:T p.(Asn1729=) NC_000019.10:35730451:C:T p.(Asn1729=) NC_000019.10:35730451:C:T Identity +NM_006734.4:c.1170G>A NP_006725.3:p.Pro390= NC_000006.12:142773568:C:T p.(Pro390=) NC_000006.12:142773568:C:T p.(Pro390=) NC_000006.12:142773568:C:T Identity +NM_002439.5:c.2520C>T NP_002430.3:p.Val840= NC_000005.10:80787648:C:T p.(Val840=) NC_000005.10:80787648:C:T p.(Val840=) NC_000005.10:80787648:C:T Identity +NM_014028.4:c.495A>G NP_054747.2:p.Thr165= NC_000006.12:108064206:T:C p.(Thr165=) NC_000006.12:108064206:T:C p.(Thr165=) NC_000006.12:108064206:T:C Identity +NM_001193307.2:c.2028G>A NP_001180236.1:p.Lys676= NC_000007.14:93104069:C:T p.(Lys676=) NC_000007.14:93104069:C:T p.(Lys676=) NC_000007.14:93104069:C:T Identity +NM_001042681.2:c.864C>T NP_001036146.1:p.Val288= NC_000001.11:8508641:G:A p.(Val288=) NC_000001.11:8508641:G:A p.(Val288=) NC_000001.11:8508641:G:A Identity +NM_006734.4:c.927C>T NP_006725.3:p.Gly309= NC_000006.12:142773811:G:A p.(Gly309=) NC_000006.12:142773811:G:A p.(Gly309=) NC_000006.12:142773811:G:A Identity +NM_025074.7:c.7344C>T NP_079350.5:p.Leu2448= NC_000004.12:78470063:C:T p.(Leu2448=) NC_000004.12:78470063:C:T p.(Leu2448=) NC_000004.12:78470063:C:T Identity +NM_001278511.2:c.2241C>T NP_001265440.1:p.Ser747= NC_000015.10:82663842:G:A p.(Ser747=) NC_000015.10:82663842:G:A p.(Ser747=) NC_000015.10:82663842:G:A Identity +NM_000920.4:c.1353C>T NP_000911.2:p.Arg451= NC_000011.10:66863788:G:A p.(Arg451=) NC_000011.10:66863788:G:A p.(Arg451=) NC_000011.10:66863788:G:A Identity +NM_004044.7:c.1767C>A NP_004035.2:p.Leu589= NC_000002.12:215349642:C:A p.(Leu589=) NC_000002.12:215349642:C:A p.(Leu589=) NC_000002.12:215349642:C:A Identity +NM_001303471.3:c.306C>T NP_001290400.1:p.Arg102= NC_000018.10:79973690:G:A p.(Arg102=) NC_000018.10:79973690:G:A p.(Arg102=) NC_000018.10:79973690:G:A Identity +NM_005094.4:c.492T>C NP_005085.2:p.Ala164= NC_000009.12:128345484:T:C p.(Ala164=) NC_000009.12:128345484:T:C p.(Ala164=) NC_000009.12:128345484:T:C Identity +NM_004518.6:c.1509C>T NP_004509.2:p.Asp503= NC_000020.11:63414125:G:A p.(Asp503=) NC_000020.11:63414125:G:A p.(Asp503=) NC_000020.11:63414125:G:A Identity +NM_001367830.1:c.2895C>T NP_001354759.1:p.His965= NC_000019.10:11228963:G:A p.(His965=) NC_000019.10:11228963:G:A p.(His965=) NC_000019.10:11228963:G:A Identity +NM_000435.3:c.963C>T NP_000426.2:p.Ala321= NC_000019.10:15191496:G:A p.(Ala321=) NC_000019.10:15191496:G:A p.(Ala321=) NC_000019.10:15191496:G:A Identity +NM_001199281.1:c.5517G>A NP_001186210.1:p.Pro1839= NC_000022.11:24167147:G:A p.(Pro1839=) NC_000022.11:24167147:G:A p.(Pro1839=) NC_000022.11:24167147:G:A Identity +NM_001346201.2:c.145C>T NP_001333130.1:p.Leu49= NC_000012.12:63984023:C:T p.(Leu49=) NC_000012.12:63984023:C:T p.(Leu49=) NC_000012.12:63984023:C:T Identity +NM_001394062.1:c.13779G>C NP_001380991.1:p.Leu4593= NC_000001.11:39382082:G:C p.(Leu4593=) NC_000001.11:39382082:G:C p.(Leu4593=) NC_000001.11:39382082:G:C Identity +NM_001251989.2:c.327G>A NP_001238918.1:p.Ala109= NC_000006.12:24784138:G:A p.(Ala109=) NC_000006.12:24784138:G:A p.(Ala109=) NC_000006.12:24784138:G:A Identity +NM_001252338.2:c.921G>A NP_001239267.1:p.Ala307= NC_000020.11:61873881:G:A p.(Ala307=) NC_000020.11:61873881:G:A p.(Ala307=) NC_000020.11:61873881:G:A Identity +NM_001288715.1:c.2460G>A NP_001275644.1:p.Ala820= NC_000005.10:11082750:C:T p.(Ala820=) NC_000005.10:11082750:C:T p.(Ala820=) NC_000005.10:11082750:C:T Identity +NM_001384475.1:c.6483C>T NP_001371404.1:p.Gly2161= NC_000018.10:75064203:C:T p.(Gly2161=) NC_000018.10:75064203:C:T p.(Gly2161=) NC_000018.10:75064203:C:T Identity +NM_001321851.1:c.2379C>T NP_001308780.1:p.Asp793= NC_000014.9:92005593:G:A p.(Asp793=) NC_000014.9:92005593:G:A p.(Asp793=) NC_000014.9:92005593:G:A Identity +NM_001316327.2:c.1470C>T NP_001303256.1:p.Ala490= NC_000003.12:53188773:C:T p.(Ala490=) NC_000003.12:53188773:C:T p.(Ala490=) NC_000003.12:53188773:C:T Identity +NM_002332.3:c.2301C>T NP_002323.2:p.Arg767= NC_000012.12:57162414:C:T p.(Arg767=) NC_000012.12:57162414:C:T p.(Arg767=) NC_000012.12:57162414:C:T Identity +NM_002581.5:c.3702C>T NP_002572.2:p.His1234= NC_000009.12:116344632:C:T p.(His1234=) NC_000009.12:116344632:C:T p.(His1234=) NC_000009.12:116344632:C:T Identity +NM_001134707.2:c.2226G>A NP_001128179.1:p.Ala742= NC_000009.12:133671634:C:T p.(Ala742=) NC_000009.12:133671634:C:T p.(Ala742=) NC_000009.12:133671634:C:T Identity +NM_001277126.2:c.552G>A NP_001264055.1:p.Ala184= NC_000019.10:53811106:C:T p.(Ala184=) NC_000019.10:53811106:C:T p.(Ala184=) NC_000019.10:53811106:C:T Identity +NM_001163435.3:c.1275G>A NP_001156907.2:p.Thr425= NC_000004.12:106236464:C:T p.(Thr425=) NC_000004.12:106236464:C:T p.(Thr425=) NC_000004.12:106236464:C:T Identity +NM_001127698.2:c.1896C>T NP_001121170.1:p.Cys632= NC_000005.10:148114369:C:T p.(Cys632=) NC_000005.10:148114369:C:T p.(Cys632=) NC_000005.10:148114369:C:T Identity +NM_172070.4:c.4323G>A NP_742067.3:p.Pro1441= NC_000002.12:170008895:G:A p.(Pro1441=) NC_000002.12:170008895:G:A p.(Pro1441=) NC_000002.12:170008895:G:A Identity +NM_000403.4:c.291G>A NP_000394.2:p.Ser97= NC_000001.11:23798176:C:T p.(Ser97=) NC_000001.11:23798176:C:T p.(Ser97=) NC_000001.11:23798176:C:T Identity +NM_001098209.2:c.1155C>A NP_001091679.1:p.Leu385= NC_000003.12:41233413:C:A p.(Leu385=) NC_000003.12:41233413:C:A p.(Leu385=) NC_000003.12:41233413:C:A Identity +NM_001346897.2:c.984G>A NP_001333826.1:p.Pro328= NC_000007.14:55156644:G:A p.(Pro328=) NC_000007.14:55156644:G:A p.(Pro328=) NC_000007.14:55156644:G:A Identity +NM_001942.4:c.1803A>G NP_001933.2:p.Gly601= NC_000018.10:31343564:A:G p.(Gly601=) NC_000018.10:31343564:A:G p.(Gly601=) NC_000018.10:31343564:A:G Identity +NM_001414.4:c.891C>T NP_001405.1:p.Ser297= NC_000012.12:123621782:G:A p.(Ser297=) NC_000012.12:123621782:G:A p.(Ser297=) NC_000012.12:123621782:G:A Identity +NM_002224.4:c.4317G>A NP_002215.2:p.Thr1439= NC_000006.12:33680420:G:A p.(Thr1439=) NC_000006.12:33680420:G:A p.(Thr1439=) NC_000006.12:33680420:G:A Identity +NM_001163435.3:c.1470C>T NP_001156907.2:p.Tyr490= NC_000004.12:106233629:G:A p.(Tyr490=) NC_000004.12:106233629:G:A p.(Tyr490=) NC_000004.12:106233629:G:A Identity +NM_005392.4:c.1935C>T NP_005383.3:p.Leu645= NC_000009.12:93663632:C:T p.(Leu645=) NC_000009.12:93663632:C:T p.(Leu645=) NC_000009.12:93663632:C:T Identity +NM_001363711.2:c.597G>C NP_001350640.1:p.Ser199= NC_000015.10:45111501:C:G p.(Ser199=) NC_000015.10:45111501:C:G p.(Ser199=) NC_000015.10:45111501:C:G Identity +NM_001080397.3:c.882G>A NP_001073866.3:p.Arg294= NC_000001.11:8330374:G:A p.(Arg294=) NC_000001.11:8330374:G:A p.(Arg294=) NC_000001.11:8330374:G:A Identity +NM_001040712.2:c.4242C>T NP_001035802.1:p.Ile1414= NC_000009.12:8331643:G:A p.(Ile1414=) NC_000009.12:8331643:G:A p.(Ile1414=) NC_000009.12:8331643:G:A Identity +NM_000177.5:c.1833C>T NP_000168.1:p.Ser611= NC_000009.12:121327399:C:T p.(Ser611=) NC_000009.12:121327399:C:T p.(Ser611=) NC_000009.12:121327399:C:T Identity +NM_001378183.1:c.4239C>T NP_001365112.1:p.Ala1413= NC_000018.10:10750115:G:A p.(Ala1413=) NC_000018.10:10750115:G:A p.(Ala1413=) NC_000018.10:10750115:G:A Identity +NM_002738.7:c.87G>A NP_002729.2:p.Lys29= NC_000016.10:23836261:G:A p.(Lys29=) NC_000016.10:23836261:G:A p.(Lys29=) NC_000016.10:23836261:G:A Identity +NM_173500.4:c.3420A>G NP_775771.3:p.Pro1140= NC_000015.10:42746109:T:C p.(Pro1140=) NC_000015.10:42746109:T:C p.(Pro1140=) NC_000015.10:42746109:T:C Identity +NM_001130103.2:c.450C>T NP_001123575.1:p.Asp150= NC_000010.11:69880516:C:T p.(Asp150=) NC_000010.11:69880516:C:T p.(Asp150=) NC_000010.11:69880516:C:T Identity +NM_001304811.2:c.447T>C NP_001291740.1:p.Phe149= NC_000012.12:4529927:A:G p.(Phe149=) NC_000012.12:4529927:A:G p.(Phe149=) NC_000012.12:4529927:A:G Identity +NM_001351444.2:c.5403A>G NP_001338373.1:p.Gln1801= NC_000006.12:87259451:A:G p.(Gln1801=) NC_000006.12:87259451:A:G p.(Gln1801=) NC_000006.12:87259451:A:G Identity +NM_003400.4:c.2271G>A NP_003391.1:p.Lys757= NC_000002.12:61488206:C:T p.(Lys757=) NC_000002.12:61488206:C:T p.(Lys757=) NC_000002.12:61488206:C:T Identity +NM_001366177.2:c.891A>G NP_001353106.1:p.Val297= NC_000001.11:155481978:T:C p.(Val297=) NC_000001.11:155481978:T:C p.(Val297=) NC_000001.11:155481978:T:C Identity +NM_000031.6:c.360T>C NP_000022.3:p.Asp120= NC_000009.12:113390834:A:G p.(Asp120=) NC_000009.12:113390834:A:G p.(Asp120=) NC_000009.12:113390834:A:G Identity +NM_006908.5:c.75C>G NP_008839.2:p.Thr25= NC_000007.14:6387250:C:G p.(Thr25=) NC_000007.14:6387250:C:G p.(Thr25=) NC_000007.14:6387250:C:G Identity +NM_138477.4:c.2076C>T NP_612486.2:p.Thr692= NC_000015.10:42730695:G:A p.(Thr692=) NC_000015.10:42730695:G:A p.(Thr692=) NC_000015.10:42730695:G:A Identity +NM_003482.4:c.507A>C NP_003473.3:p.Ser169= NC_000012.12:49054309:T:G p.(Ser169=) NC_000012.12:49054309:T:G p.(Ser169=) NC_000012.12:49054309:T:G Identity +NM_033225.6:c.582G>A NP_150094.5:p.Ser194= NC_000008.11:4031932:C:T p.(Ser194=) NC_000008.11:4031932:C:T p.(Ser194=) NC_000008.11:4031932:C:T Identity +NM_001164144.3:c.1521C>A NP_001157616.1:p.Ser507= NC_000013.11:114325362:C:A p.(Ser507=) NC_000013.11:114325362:C:A p.(Ser507=) NC_000013.11:114325362:C:A Identity +NM_000718.4:c.2718C>G NP_000709.1:p.Arg906= NC_000009.12:138023460:C:G p.(Arg906=) NC_000009.12:138023460:C:G p.(Arg906=) NC_000009.12:138023460:C:G Identity +NM_001330347.2:c.807A>C NP_001317276.1:p.Ser269= NC_000011.10:94471611:T:G p.(Ser269=) NC_000011.10:94471611:T:G p.(Ser269=) NC_000011.10:94471611:T:G Identity +NM_173689.7:c.270C>T NP_775960.4:p.Thr90= NC_000009.12:123363039:C:T p.(Thr90=) NC_000009.12:123363039:C:T p.(Thr90=) NC_000009.12:123363039:C:T Identity +NM_001005505.3:c.696G>A NP_001005505.1:p.Glu232= NC_000003.12:50381082:C:T p.(Glu232=) NC_000003.12:50381082:C:T p.(Glu232=) NC_000003.12:50381082:C:T Identity +NM_001291285.3:c.4599C>T NP_001278214.1:p.Asn1533= NC_000004.12:125321009:C:T p.(Asn1533=) NC_000004.12:125321009:C:T p.(Asn1533=) NC_000004.12:125321009:C:T Identity +NM_001135.4:c.1242C>T NP_001126.3:p.Pro414= NC_000015.10:88845694:C:T p.(Pro414=) NC_000015.10:88845694:C:T p.(Pro414=) NC_000015.10:88845694:C:T Identity +NM_001080951.3:c.1143C>A NP_001074420.1:p.Ser381= NC_000006.12:143941672:G:T p.(Ser381=) NC_000006.12:143941672:G:T p.(Ser381=) NC_000006.12:143941672:G:T Identity +NM_001005505.3:c.2922G>A NP_001005505.1:p.Leu974= NC_000003.12:50365681:C:T p.(Leu974=) NC_000003.12:50365681:C:T p.(Leu974=) NC_000003.12:50365681:C:T Identity +NM_001190892.1:c.561A>C NP_001177821.1:p.Ser187= NC_000020.11:1980526:T:G p.(Ser187=) NC_000020.11:1980526:T:G p.(Ser187=) NC_000020.11:1980526:T:G Identity +NM_001003841.3:c.1158C>T NP_001003841.1:p.Asn386= NC_000005.10:1216929:C:T p.(Asn386=) NC_000005.10:1216929:C:T p.(Asn386=) NC_000005.10:1216929:C:T Identity +NM_001303052.2:c.372C>T NP_001289981.1:p.Asp124= NC_000002.12:1943114:G:A p.(Asp124=) NC_000002.12:1943114:G:A p.(Asp124=) NC_000002.12:1943114:G:A Identity +NM_001378414.1:c.2787G>A NP_001365343.1:p.Pro929= NC_000002.12:239068570:C:T p.(Pro929=) NC_000002.12:239068570:C:T p.(Pro929=) NC_000002.12:239068570:C:T Identity +NM_001145293.2:c.1689A>G NP_001138765.1:p.Val563= NC_000003.12:25720059:T:C p.(Val563=) NC_000003.12:25720059:T:C p.(Val563=) NC_000003.12:25720059:T:C Identity +NM_032951.3:c.22C>T NP_116569.1:p.Leu8= NC_000007.14:73624470:G:A p.(Leu8=) NC_000007.14:73624470:G:A p.(Leu8=) NC_000007.14:73624470:G:A Identity +NM_001042465.3:c.873C>T NP_001035930.1:p.Ala291= NC_000010.11:71821920:G:A p.(Ala291=) NC_000010.11:71821920:G:A p.(Ala291=) NC_000010.11:71821920:G:A Identity +NM_000426.4:c.4554C>A NP_000417.3:p.Gly1518= NC_000006.12:129353193:C:A p.(Gly1518=) NC_000006.12:129353193:C:A p.(Gly1518=) NC_000006.12:129353193:C:A Identity +NM_001079866.2:c.498C>T NP_001073335.1:p.Thr166= NC_000002.12:218661795:C:T p.(Thr166=) NC_000002.12:218661795:C:T p.(Thr166=) NC_000002.12:218661795:C:T Identity +NM_001277126.2:c.2676G>A NP_001264055.1:p.Leu892= NC_000019.10:53801309:C:T p.(Leu892=) NC_000019.10:53801309:C:T p.(Leu892=) NC_000019.10:53801309:C:T Identity +NM_001346432.2:c.463C>T NP_001333361.1:p.Leu155= NC_000011.10:27385334:G:A p.(Leu155=) NC_000011.10:27385334:G:A p.(Leu155=) NC_000011.10:27385334:G:A Identity +NM_000092.5:c.771C>T NP_000083.3:p.Thr257= NC_000002.12:227104016:G:A p.(Thr257=) NC_000002.12:227104016:G:A p.(Thr257=) NC_000002.12:227104016:G:A Identity +NM_001083614.2:c.1206C>T NP_001077083.1:p.Ile402= NC_000016.10:23529758:G:A p.(Ile402=) NC_000016.10:23529758:G:A p.(Ile402=) NC_000016.10:23529758:G:A Identity +NM_001350626.2:c.1164G>A NP_001337555.1:p.Ala388= NC_000007.14:2541454:C:T p.(Ala388=) NC_000007.14:2541454:C:T p.(Ala388=) NC_000007.14:2541454:C:T Identity +NM_002087.4:c.54G>A NP_002078.1:p.Thr18= NC_000017.11:44349217:G:A p.(Thr18=) NC_000017.11:44349217:G:A p.(Thr18=) NC_000017.11:44349217:G:A Identity +NM_001256545.2:c.1230G>A NP_001243474.1:p.Gln410= NC_000005.10:127417736:G:A p.(Gln410=) NC_000005.10:127417736:G:A p.(Gln410=) NC_000005.10:127417736:G:A Identity +NM_000719.7:c.1251C>T NP_000710.5:p.Ala417= NC_000012.12:2512844:C:T p.(Ala417=) NC_000012.12:2512844:C:T p.(Ala417=) NC_000012.12:2512844:C:T Identity +NM_001177984.3:c.1392G>A NP_001171455.1:p.Glu464= NC_000012.12:51706471:G:A p.(Glu464=) NC_000012.12:51706471:G:A p.(Glu464=) NC_000012.12:51706471:G:A Identity +NM_207581.4:c.420G>A NP_997464.2:p.Ala140= NC_000015.10:45116594:G:A p.(Ala140=) NC_000015.10:45116594:G:A p.(Ala140=) NC_000015.10:45116594:G:A Identity +NM_015512.5:c.1881C>T NP_056327.4:p.Ser627= NC_000003.12:52346695:C:T p.(Ser627=) NC_000003.12:52346695:C:T p.(Ser627=) NC_000003.12:52346695:C:T Identity +NM_000048.4:c.330A>G NP_000039.2:p.Gly110= NC_000007.14:66082917:A:G p.(Gly110=) NC_000007.14:66082917:A:G p.(Gly110=) NC_000007.14:66082917:A:G Identity +NM_012318.3:c.1521G>A NP_036450.1:p.Pro507= NC_000004.12:1822267:C:T p.(Pro507=) NC_000004.12:1822267:C:T p.(Pro507=) NC_000004.12:1822267:C:T Identity +NM_001845.6:c.2517G>A NP_001836.3:p.Pro839= NC_000013.11:110178172:C:T p.(Pro839=) NC_000013.11:110178172:C:T p.(Pro839=) NC_000013.11:110178172:C:T Identity +NM_014835.5:c.153G>A NP_055650.1:p.Ser51= NC_000020.11:62263621:G:A p.(Ser51=) NC_000020.11:62263621:G:A p.(Ser51=) NC_000020.11:62263621:G:A Identity +NM_004553.6:c.165G>T NP_004544.1:p.Arg55= NC_000005.10:1802352:G:T p.(Arg55=) NC_000005.10:1802352:G:T p.(Arg55=) NC_000005.10:1802352:G:T Identity +NM_001320867.2:c.456G>A NP_001307796.1:p.Arg152= NC_000019.10:43511452:C:T p.(Arg152=) NC_000019.10:43511452:C:T p.(Arg152=) NC_000019.10:43511452:C:T Identity +NM_000378.6:c.981C>T NP_000369.4:p.Tyr327= NC_000011.10:32400028:G:A p.(Tyr327=) NC_000011.10:32400028:G:A p.(Tyr327=) NC_000011.10:32400028:G:A Identity +NM_173689.7:c.762C>T NP_775960.4:p.Ser254= NC_000009.12:123367178:C:T p.(Ser254=) NC_000009.12:123367178:C:T p.(Ser254=) NC_000009.12:123367178:C:T Identity +NM_001002019.3:c.981G>A NP_001002019.1:p.Pro327= NC_000012.12:131941811:G:A p.(Pro327=) NC_000012.12:131941811:G:A p.(Pro327=) NC_000012.12:131941811:G:A Identity +NM_001166136.2:c.2718C>T NP_001159608.1:p.Thr906= NC_000004.12:5584721:G:A p.(Thr906=) NC_000004.12:5584721:G:A p.(Thr906=) NC_000004.12:5584721:G:A Identity +NM_001278.5:c.1341A>G NP_001269.3:p.Gly447= NC_000010.11:100205089:T:C p.(Gly447=) NC_000010.11:100205089:T:C p.(Gly447=) NC_000010.11:100205089:T:C Identity +NM_001085.5:c.798G>A NP_001076.2:p.Leu266= NC_000014.9:94619348:G:A p.(Leu266=) NC_000014.9:94619348:G:A p.(Leu266=) NC_000014.9:94619348:G:A Identity +NM_001184699.2:c.1909C>T NP_001171628.1:p.Leu637= NC_000020.11:2794263:G:A p.(Leu637=) NC_000020.11:2794263:G:A p.(Leu637=) NC_000020.11:2794263:G:A Identity +NM_006113.5:c.1044G>A NP_006104.4:p.Pro348= NC_000001.11:107757302:C:T p.(Pro348=) NC_000001.11:107757302:C:T p.(Pro348=) NC_000001.11:107757302:C:T Identity +NM_001318245.2:c.1317A>G NP_001305174.1:p.Gly439= NC_000022.11:25769232:A:G p.(Gly439=) NC_000022.11:25769232:A:G p.(Gly439=) NC_000022.11:25769232:A:G Identity +NM_015512.5:c.1287G>A NP_056327.4:p.Ser429= NC_000003.12:52344489:G:A p.(Ser429=) NC_000003.12:52344489:G:A p.(Ser429=) NC_000003.12:52344489:G:A Identity +NM_000360.4:c.1389G>T NP_000351.2:p.Thr463= NC_000011.10:2164337:C:A p.(Thr463=) NC_000011.10:2164337:C:A p.(Thr463=) NC_000011.10:2164337:C:A Identity +NM_001194954.2:c.2538A>G NP_001181883.1:p.Glu846= NC_000005.10:139329388:A:G p.(Glu846=) NC_000005.10:139329388:A:G p.(Glu846=) NC_000005.10:139329388:A:G Identity +NM_001018011.3:c.1542C>T NP_001018011.1:p.Gly514= NC_000011.10:114242254:C:T p.(Gly514=) NC_000011.10:114242254:C:T p.(Gly514=) NC_000011.10:114242254:C:T Identity +NM_005215.4:c.1062C>T NP_005206.2:p.Val354= NC_000018.10:53063380:C:T p.(Val354=) NC_000018.10:53063380:C:T p.(Val354=) NC_000018.10:53063380:C:T Identity +NM_018012.4:c.6229C>T NP_060482.2:p.Leu2077= NC_000001.11:245702507:C:T p.(Leu2077=) NC_000001.11:245702507:C:T p.(Leu2077=) NC_000001.11:245702507:C:T Identity +NM_001351157.2:c.1194G>A NP_001338086.1:p.Thr398= NC_000016.10:70697197:C:T p.(Thr398=) NC_000016.10:70697197:C:T p.(Thr398=) NC_000016.10:70697197:C:T Identity +NM_144666.3:c.5793G>A NP_653267.2:p.Leu1931= NC_000011.10:6546731:G:A p.(Leu1931=) NC_000011.10:6546731:G:A p.(Leu1931=) NC_000011.10:6546731:G:A Identity +NM_002332.3:c.4899C>T NP_002323.2:p.Asp1633= NC_000012.12:57179488:C:T p.(Asp1633=) NC_000012.12:57179488:C:T p.(Asp1633=) NC_000012.12:57179488:C:T Identity +NM_001135.4:c.438G>A NP_001126.3:p.Leu146= NC_000015.10:88839029:G:A p.(Leu146=) NC_000015.10:88839029:G:A p.(Leu146=) NC_000015.10:88839029:G:A Identity +NM_001287742.2:c.459G>A NP_001274671.1:p.Gly153= NC_000008.11:11821826:G:A p.(Gly153=) NC_000008.11:11821826:G:A p.(Gly153=) NC_000008.11:11821826:G:A Identity +NM_001283043.3:c.5526A>G NP_001269972.1:p.Thr1842= NC_000014.9:35605633:T:C p.(Thr1842=) NC_000014.9:35605633:T:C p.(Thr1842=) NC_000014.9:35605633:T:C Identity +NM_001164507.2:c.18519C>T NP_001157979.2:p.Thr6173= NC_000002.12:151563882:G:A p.(Thr6173=) NC_000002.12:151563882:G:A p.(Thr6173=) NC_000002.12:151563882:G:A Identity +NM_000669.5:c.522C>T NP_000660.1:p.Gly174= NC_000004.12:99344906:G:A p.(Gly174=) NC_000004.12:99344906:G:A p.(Gly174=) NC_000004.12:99344906:G:A Identity +NM_000632.4:c.2760G>A NP_000623.2:p.Pro920= NC_000016.10:31328197:G:A p.(Pro920=) NC_000016.10:31328197:G:A p.(Pro920=) NC_000016.10:31328197:G:A Identity +NM_005560.6:c.8898C>T NP_005551.3:p.Phe2966= NC_000020.11:62313144:G:A p.(Phe2966=) NC_000020.11:62313144:G:A p.(Phe2966=) NC_000020.11:62313144:G:A Identity +NM_001293640.2:c.3291C>G NP_001280569.1:p.Ala1097= NC_000012.12:105164240:C:G p.(Ala1097=) NC_000012.12:105164240:C:G p.(Ala1097=) NC_000012.12:105164240:C:G Identity +NM_001164665.2:c.3453C>T NP_001158137.1:p.Ile1151= NC_000007.14:138906925:G:A p.(Ile1151=) NC_000007.14:138906925:G:A p.(Ile1151=) NC_000007.14:138906925:G:A Identity +NM_001145923.2:c.2859C>T NP_001139395.1:p.Pro953= NC_000015.10:76381485:G:A p.(Pro953=) NC_000015.10:76381485:G:A p.(Pro953=) NC_000015.10:76381485:G:A Identity +NM_001370598.1:c.3255G>A NP_001357527.1:p.Pro1085= NC_000012.12:111341834:G:A p.(Pro1085=) NC_000012.12:111341834:G:A p.(Pro1085=) NC_000012.12:111341834:G:A Identity +NM_001256182.2:c.3423C>T NP_001243111.1:p.Ser1141= NC_000016.10:89283118:G:A p.(Ser1141=) NC_000016.10:89283118:G:A p.(Ser1141=) NC_000016.10:89283118:G:A Identity +NM_005560.6:c.4311A>T NP_005551.3:p.Pro1437= NC_000020.11:62328979:T:A p.(Pro1437=) NC_000020.11:62328979:T:A p.(Pro1437=) NC_000020.11:62328979:T:A Identity +NM_199420.4:c.4017T>C NP_955452.3:p.Asn1339= NC_000003.12:121488913:A:G p.(Asn1339=) NC_000003.12:121488913:A:G p.(Asn1339=) NC_000003.12:121488913:A:G Identity +NM_001012614.2:c.711C>T NP_001012632.1:p.Asn237= NC_000004.12:1216008:G:A p.(Asn237=) NC_000004.12:1216008:G:A p.(Asn237=) NC_000004.12:1216008:G:A Identity +NM_005035.4:c.723C>T NP_005026.3:p.Leu241= NC_000019.10:629638:G:A p.(Leu241=) NC_000019.10:629638:G:A p.(Leu241=) NC_000019.10:629638:G:A Identity +NM_000746.6:c.933A>G NP_000737.1:p.Thr311= NC_000015.10:32163277:A:G p.(Thr311=) NC_000015.10:32163277:A:G p.(Thr311=) NC_000015.10:32163277:A:G Identity +NM_001370598.1:c.843G>A NP_001357527.1:p.Thr281= NC_000012.12:111307090:G:A p.(Thr281=) NC_000012.12:111307090:G:A p.(Thr281=) NC_000012.12:111307090:G:A Identity +NM_194302.4:c.2919C>T NP_919278.2:p.Pro973= NC_000002.12:219022230:G:A p.(Pro973=) NC_000002.12:219022230:G:A p.(Pro973=) NC_000002.12:219022230:G:A Identity +NM_001303052.2:c.2532G>A NP_001289981.1:p.Leu844= NC_000002.12:1887597:C:T p.(Leu844=) NC_000002.12:1887597:C:T p.(Leu844=) NC_000002.12:1887597:C:T Identity +NM_001286581.2:c.2877G>A NP_001273510.1:p.Thr959= NC_000011.10:608332:G:A p.(Thr959=) NC_000011.10:608332:G:A p.(Thr959=) NC_000011.10:608332:G:A Identity +NM_001297571.2:c.654T>A NP_001284500.1:p.Arg218= NC_000012.12:6843935:T:A p.(Arg218=) NC_000012.12:6843935:T:A p.(Arg218=) NC_000012.12:6843935:T:A Identity +NM_001142864.4:c.1072C>T NP_001136336.2:p.Leu358= NC_000016.10:88737762:G:A p.(Leu358=) NC_000016.10:88737762:G:A p.(Leu358=) NC_000016.10:88737762:G:A Identity +NM_001080414.4:c.4287C>T NP_001073883.2:p.Thr1429= NC_000014.9:91289258:G:A p.(Thr1429=) NC_000014.9:91289258:G:A p.(Thr1429=) NC_000014.9:91289258:G:A Identity +NM_001033053.3:c.1845C>T NP_001028225.1:p.Ile615= NC_000017.11:5558850:G:A p.(Ile615=) NC_000017.11:5558850:G:A p.(Ile615=) NC_000017.11:5558850:G:A Identity +NM_001134382.3:c.174G>T NP_001127854.1:p.Pro58= NC_000003.12:12941714:C:A p.(Pro58=) NC_000003.12:12941714:C:A p.(Pro58=) NC_000003.12:12941714:C:A Identity +NM_002687.4:c.553A>C NP_002678.3:p.Arg185= NC_000014.9:39179144:A:C p.(Arg185=) NC_000014.9:39179144:A:C p.(Arg185=) NC_000014.9:39179144:A:C Identity +NM_001321431.2:c.4488G>A NP_001308360.1:p.Thr1496= NC_000019.10:8109356:C:T p.(Thr1496=) NC_000019.10:8109356:C:T p.(Thr1496=) NC_000019.10:8109356:C:T Identity +NM_001318245.2:c.372T>C NP_001305174.1:p.Asn124= NC_000022.11:25768287:T:C p.(Asn124=) NC_000022.11:25768287:T:C p.(Asn124=) NC_000022.11:25768287:T:C Identity +NM_001085.5:c.36C>T NP_001076.2:p.Leu12= NC_000014.9:94614476:C:T p.(Leu12=) NC_000014.9:94614476:C:T p.(Leu12=) NC_000014.9:94614476:C:T Identity +NM_001243198.3:c.540C>T NP_001230127.1:p.Asn180= NC_000007.14:75582076:G:A p.(Asn180=) NC_000007.14:75582076:G:A p.(Asn180=) NC_000007.14:75582076:G:A Identity +NM_001008540.2:c.183A>G NP_001008540.1:p.Gly61= NC_000002.12:136115756:T:C p.(Gly61=) NC_000002.12:136115756:T:C p.(Gly61=) NC_000002.12:136115756:T:C Identity +NM_018052.5:c.612G>A NP_060522.3:p.Ser204= NC_000016.10:70783536:C:T p.(Ser204=) NC_000016.10:70783536:C:T p.(Ser204=) NC_000016.10:70783536:C:T Identity +NM_001042681.2:c.3297C>T NP_001036146.1:p.Asp1099= NC_000001.11:8360209:G:A p.(Asp1099=) NC_000001.11:8360209:G:A p.(Asp1099=) NC_000001.11:8360209:G:A Identity +NM_000582.3:c.126A>G NP_000573.1:p.Thr42= NC_000004.12:87980077:A:G p.(Thr42=) NC_000004.12:87980077:A:G p.(Thr42=) NC_000004.12:87980077:A:G Identity +NM_001174089.2:c.1926C>T NP_001167560.1:p.Val642= NC_000020.11:3229186:G:A p.(Val642=) NC_000020.11:3229186:G:A p.(Val642=) NC_000020.11:3229186:G:A Identity +NM_021072.4:c.1056T>C NP_066550.2:p.Ala352= NC_000005.10:45396665:A:G p.(Ala352=) NC_000005.10:45396665:A:G p.(Ala352=) NC_000005.10:45396665:A:G Identity +NM_000495.5:c.348A>G NP_000486.1:p.Pro116= NC_000023.11:108568784:A:G p.(Pro116=) NC_000023.11:108568784:A:G p.(Pro116=) NC_000023.11:108568784:A:G Identity +NM_001130438.3:c.5553G>A NP_001123910.1:p.Ala1851= NC_000009.12:128618060:G:A p.(Ala1851=) NC_000009.12:128618060:G:A p.(Ala1851=) NC_000009.12:128618060:G:A Identity +NM_000237.3:c.1074C>T NP_000228.1:p.Thr358= NC_000008.11:19959314:C:T p.(Thr358=) NC_000008.11:19959314:C:T p.(Thr358=) NC_000008.11:19959314:C:T Identity +NM_002473.6:c.1788C>T NP_002464.1:p.Ile596= NC_000022.11:36309336:G:A p.(Ile596=) NC_000022.11:36309336:G:A p.(Ile596=) NC_000022.11:36309336:G:A Identity +NM_001111125.3:c.108G>A NP_001104595.1:p.Leu36= NC_000023.11:53321015:C:T p.(Leu36=) NC_000023.11:53321015:C:T p.(Leu36=) NC_000023.11:53321015:C:T Identity +NM_001372305.1:c.1509ACCCCCGCC[1] NP_001359234.1:p.Pro507_Pro509del NC_000019.10:50323198:GGCGGGGGTGGCGGGGGTGG:GGCGGGGGTGG p.(Pro507_Pro509del) NC_000019.10:50323215:T:GGCGGGGGT ERR:Parse ERR:Parse Identity +NM_000068.4:c.3240G>A NP_000059.3:p.Ala1080= NC_000019.10:13286827:C:T p.(Ala1080=) NC_000019.10:13286827:C:T p.(Ala1080=) NC_000019.10:13286827:C:T Identity +NM_000130.5:c.1374A>G NP_000121.2:p.Glu458= NC_000001.11:169550661:T:C p.(Glu458=) NC_000001.11:169550661:T:C p.(Glu458=) NC_000001.11:169550661:T:C Identity +NM_000552.5:c.8079C>T NP_000543.3:p.Cys2693= NC_000012.12:5952426:G:A p.(Cys2693=) NC_000012.12:5952426:G:A p.(Cys2693=) NC_000012.12:5952426:G:A Identity +NM_001303110.2:c.234G>A NP_001290039.1:p.Lys78= NC_000013.11:110213925:C:T p.(Lys78=) NC_000013.11:110213925:C:T p.(Lys78=) NC_000013.11:110213925:C:T Identity +NM_015180.6:c.5011_5013dup NP_055995.4:p.Leu1671dup NC_000014.9:64017716:ATTA:ATTATTA p.(Leu1671dup) NC_000014.9:64017716:ATTA:ATTATTA p.(Leu1671dup) ERR:SPDI Identity +NM_001005407.2:c.5328C>T NP_001005407.1:p.Cys1776= NC_000016.10:1217940:C:T p.(Cys1776=) NC_000016.10:1217940:C:T p.(Cys1776=) NC_000016.10:1217940:C:T Identity +NM_006885.4:c.198G>A NP_008816.3:p.Ala66= NC_000016.10:72959947:C:T p.(Ala66=) NC_000016.10:72959947:C:T p.(Ala66=) NC_000016.10:72959947:C:T Identity +NM_001080424.2:c.4470C>G NP_001073893.1:p.Ala1490= NC_000017.11:7852495:C:G p.(Ala1490=) NC_000017.11:7852495:C:G p.(Ala1490=) NC_000017.11:7852495:C:G Identity +NM_001256324.2:c.3246G>A NP_001243253.1:p.Glu1082= NC_000017.11:50596910:G:A p.(Glu1082=) NC_000017.11:50596910:G:A p.(Glu1082=) NC_000017.11:50596910:G:A Identity +NM_001351693.2:c.2964C>T NP_001338622.1:p.Ser988= NC_000019.10:39424273:C:T p.(Ser988=) NC_000019.10:39424273:C:T p.(Ser988=) NC_000019.10:39424273:C:T Identity +NM_000400.4:c.18C>T NP_000391.1:p.Asp6= NC_000019.10:45370219:G:A p.(Asp6=) NC_000019.10:45370219:G:A p.(Asp6=) NC_000019.10:45370219:G:A Identity +NM_001378120.1:c.2658G>A NP_001365049.1:p.Gly886= NC_000002.12:148483248:G:A p.(Gly886=) NC_000002.12:148483248:G:A p.(Gly886=) NC_000002.12:148483248:G:A Identity +NM_004975.4:c.2127G>A NP_004966.1:p.Glu709= NC_000020.11:49373432:C:T p.(Glu709=) NC_000020.11:49373432:C:T p.(Glu709=) NC_000020.11:49373432:C:T Identity +NM_004975.4:c.372C>T NP_004966.1:p.Ile124= NC_000020.11:49482108:G:A p.(Ile124=) NC_000020.11:49482108:G:A p.(Ile124=) NC_000020.11:49482108:G:A Identity +NM_000268.4:c.1767G>A NP_000259.1:p.Val589= NC_000022.11:29694780:G:A p.(Val589=) NC_000022.11:29694780:G:A p.(Val589=) NC_000022.11:29694780:G:A Identity +NM_000333.4:c.1638C>A NP_000324.1:p.Ala546= NC_000003.12:63990814:C:A p.(Ala546=) NC_000003.12:63990814:C:A p.(Ala546=) NC_000003.12:63990814:C:A Identity +NM_001144769.5:c.3378G>A NP_001138241.1:p.Ala1126= NC_000006.12:56634478:C:T p.(Ala1126=) NC_000006.12:56634478:C:T p.(Ala1126=) NC_000006.12:56634478:C:T Identity +NM_001281463.1:c.3069T>C NP_001268392.1:p.Phe1023= NC_000023.11:53382655:A:G p.(Phe1023=) NC_000023.11:53382655:A:G p.(Phe1023=) NC_000023.11:53382655:A:G Identity +NM_020774.4:c.504A>G NP_065825.1:p.Gln168= NC_000018.10:21768724:A:G p.(Gln168=) NC_000018.10:21768724:A:G p.(Gln168=) NC_000018.10:21768724:A:G Identity +NM_006612.6:c.1038G>A NP_006603.2:p.Lys346= NC_000017.11:5004872:G:A p.(Lys346=) NC_000017.11:5004872:G:A p.(Lys346=) NC_000017.11:5004872:G:A Identity +NM_001363823.2:c.1170G>A NP_001350752.1:p.Leu390= NC_000002.12:32127021:G:A p.(Leu390=) NC_000002.12:32127021:G:A p.(Leu390=) NC_000002.12:32127021:G:A Identity +NM_001127487.2:c.5127C>T NP_001120959.1:p.Pro1709= NC_000007.14:128849505:C:T p.(Pro1709=) NC_000007.14:128849505:C:T p.(Pro1709=) NC_000007.14:128849505:C:T Identity +NM_001083600.3:c.267C>T NP_001077069.1:p.Phe89= NC_000016.10:3482527:C:T p.(Phe89=) NC_000016.10:3482527:C:T p.(Phe89=) NC_000016.10:3482527:C:T Identity +NM_001365276.2:c.3288del NP_001352205.1:p.Gln1095_Tyr1096insTer NC_000006.12:32084569:G: p.(Tyr1096Ter) NC_000006.12:32084569:G: p.(Tyr1096Ter) NC_000006.12:32084569:G: Analogous +NM_032193.4:c.61_84del NP_115569.2:p.Arg22_Leu29del NC_000011.10:65720674:TGTGGCGGGTACGGCGTCGCGCAATGTGGCGG:TGTGGCGG p.(Arg22_Leu29del) NC_000011.10:65720674:TGTGGCGGGTACGGCGTCGCGCAATGTGGCGG:TGTGGCGG p.(Arg22_Leu29del) NC_000011.10:65720674:TGTGGCGGGTACGGCGTCGCGCAA: Identity +NM_001303124.2:c.550_574dup NP_001290053.1:p.Ile192delinsArgThrThrSerTer NC_000012.12:56121110:AGGACGACGTCATGATCTCTATGATA:AGGACGACGTCATGATCTCTATGATAGGACGACGTCATGATCTCTATGATA p.(Ile192ArgfsTer5) NC_000012.12:56121110:AGGACGACGTCATGATCTCTATGATA:AGGACGACGTCATGATCTCTATGATAGGACGACGTCATGATCTCTATGATA p.(Ile192ArgfsTer5) ERR:SPDI Analogous +NM_000238.4:c.2466_2474dup NP_000229.1:p.Arg823_Leu825dup NC_000007.14:150948973:AGGGCCCGCA:AGGGCCCGCAGGGCCCGCA p.(Arg823_Leu825dup) NC_000007.14:150948973:AGGGCCCGCA:AGGGCCCGCAGGGCCCGCA p.(Arg823_Leu825dup) ERR:SPDI Identity +NM_001371656.1:c.352TCC[9] NP_001358585.1:p.Ser123_Ser124dup NC_000006.12:156778031:TCCTCCTCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCCTCCTCC p.(Ser123_Ser124dup) NC_000006.12:156778031:T:TCCTCCTCCTCCTCCTCCTCCTCCTCC ERR:Parse ERR:Parse Identity +NM_001001132.2:c.723A>G NP_001001132.1:p.Thr241= NC_000021.9:33755395:A:G p.(Thr241=) NC_000021.9:33755395:A:G p.(Thr241=) NC_000021.9:33755395:A:G Identity +NM_000352.6:c.723C>T NP_000343.2:p.His241= NC_000011.10:17461681:G:A p.(His241=) NC_000011.10:17461681:G:A p.(His241=) NC_000011.10:17461681:G:A Identity +NM_001276326.2:c.123G>A NP_001263255.1:p.Ser41= NC_000011.10:64591678:G:A p.(Ser41=) NC_000011.10:64591678:G:A p.(Ser41=) NC_000011.10:64591678:G:A Identity +NM_000317.3:c.195T>C NP_000308.1:p.Pro65= NC_000011.10:112230633:T:C p.(Pro65=) NC_000011.10:112230633:T:C p.(Pro65=) NC_000011.10:112230633:T:C Identity +NM_178161.3:c.201C>T NP_835455.1:p.Cys67= NC_000010.11:23192730:C:T p.(Cys67=) NC_000010.11:23192730:C:T p.(Cys67=) NC_000010.11:23192730:C:T Identity +NM_001252020.2:c.3042C>T NP_001238949.1:p.Val1014= NC_000015.10:31031118:G:A p.(Val1014=) NC_000015.10:31031118:G:A p.(Val1014=) NC_000015.10:31031118:G:A Identity +NM_002087.4:c.1518C>T NP_002078.1:p.Thr506= NC_000017.11:44352444:C:T p.(Thr506=) NC_000017.11:44352444:C:T p.(Thr506=) NC_000017.11:44352444:C:T Identity +NM_001166111.2:c.213C>G NP_001159583.1:p.Val71= NC_000019.10:7535973:C:G p.(Val71=) NC_000019.10:7535973:C:G p.(Val71=) NC_000019.10:7535973:C:G Identity +NM_020208.4:c.678C>T NP_064593.1:p.Tyr226= NC_000003.12:45772519:G:A p.(Tyr226=) NC_000003.12:45772519:G:A p.(Tyr226=) NC_000003.12:45772519:G:A Identity +NM_001184.4:c.2946C>T NP_001175.2:p.Phe982= NC_000003.12:142550161:G:A p.(Phe982=) NC_000003.12:142550161:G:A p.(Phe982=) NC_000003.12:142550161:G:A Identity +NM_000037.4:c.1197G>A NP_000028.3:p.Ala399= NC_000008.11:41718114:C:T p.(Ala399=) NC_000008.11:41718114:C:T p.(Ala399=) NC_000008.11:41718114:C:T Identity +NM_001040142.2:c.3348T>C NP_001035232.1:p.Asn1116= NC_000002.12:165354619:T:C p.(Asn1116=) NC_000002.12:165354619:T:C p.(Asn1116=) NC_000002.12:165354619:T:C Identity +NM_001165963.4:c.5022C>T NP_001159435.1:p.Gly1674= NC_000002.12:165992252:G:A p.(Gly1674=) NC_000002.12:165992252:G:A p.(Gly1674=) NC_000002.12:165992252:G:A Identity +NM_004525.3:c.330T>C NP_004516.2:p.Ser110= NC_000002.12:169307377:A:G p.(Ser110=) NC_000002.12:169307377:A:G p.(Ser110=) NC_000002.12:169307377:A:G Identity +NM_001844.5:c.501C>A NP_001835.3:p.Pro167= NC_000012.12:47997635:G:T p.(Pro167=) NC_000012.12:47997635:G:T p.(Pro167=) NC_000012.12:47997635:G:T Identity +NM_001130916.3:c.294A>G NP_001124388.1:p.Thr98= NC_000009.12:99129050:A:G p.(Thr98=) NC_000009.12:99129050:A:G p.(Thr98=) NC_000009.12:99129050:A:G Identity +NM_001024847.3:c.1755C>T NP_001020018.1:p.Asp585= NC_000003.12:30691574:C:T p.(Asp585=) NC_000003.12:30691574:C:T p.(Asp585=) NC_000003.12:30691574:C:T Identity +NM_000138.5:c.6417T>C NP_000129.3:p.His2139= NC_000015.10:48437039:A:G p.(His2139=) NC_000015.10:48437039:A:G p.(His2139=) NC_000015.10:48437039:A:G Identity +NM_001320759.2:c.318C>T NP_001307688.1:p.Ser106= NC_000017.11:18302619:G:A p.(Ser106=) NC_000017.11:18302619:G:A p.(Ser106=) NC_000017.11:18302619:G:A Identity +NM_000755.5:c.1023C>T NP_000746.3:p.Tyr341= NC_000009.12:129099927:G:A p.(Tyr341=) NC_000009.12:129099927:G:A p.(Tyr341=) NC_000009.12:129099927:G:A Identity +NM_001193416.3:c.1326A>G NP_001180345.1:p.Ser442= NC_000023.11:41346238:A:G p.(Ser442=) NC_000023.11:41346238:A:G p.(Ser442=) NC_000023.11:41346238:A:G Identity +NM_000906.4:c.1452C>G NP_000897.3:p.Leu484= NC_000001.11:153683791:C:G p.(Leu484=) NC_000001.11:153683791:C:G p.(Leu484=) NC_000001.11:153683791:C:G Identity +NM_001256876.3:c.2367G>A NP_001243805.1:p.Gly789= NC_000009.12:713132:G:A p.(Gly789=) NC_000009.12:713132:G:A p.(Gly789=) NC_000009.12:713132:G:A Identity +NM_001165963.4:c.1170G>A NP_001159435.1:p.Leu390= NC_000002.12:166047626:C:T p.(Leu390=) NC_000002.12:166047626:C:T p.(Leu390=) NC_000002.12:166047626:C:T Identity +NM_001190274.2:c.149AGC[8] NP_001177203.1:p.Gln56dup NC_000002.12:47905551:GCTGCTGCTGCTGCTGCTGCTGC:GCTGCTGCTGCTGCTGCTGCTGCTGC p.(Gln56dup) NC_000002.12:47905571:T:GCTGCTGCTGCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_007118.4:c.6877GGC[8] NP_009049.2:p.Gly2297_Gly2298dup NC_000005.10:14487504:GGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGCGGCGGC p.(Gly2297_Gly2298dup) NC_000005.10:14487504:G:GGCGGCGGCGGCGGCGGCGGCGGC ERR:Parse ERR:Parse Identity +NM_000199.5:c.1371T>C NP_000190.1:p.Phe457= NC_000017.11:80210589:A:G p.(Phe457=) NC_000017.11:80210589:A:G p.(Phe457=) NC_000017.11:80210589:A:G Identity +NM_014208.3:c.3204T>C NP_055023.2:p.Asp1068= NC_000004.12:87615865:T:C p.(Asp1068=) NC_000004.12:87615865:T:C p.(Asp1068=) NC_000004.12:87615865:T:C Identity +NM_000445.5:c.5589G>A NP_000436.2:p.Ala1863= NC_000008.11:143924420:C:T p.(Ala1863=) NC_000008.11:143924420:C:T p.(Ala1863=) NC_000008.11:143924420:C:T Identity +NM_001382235.1:c.417G>A NP_001369164.1:p.Val139= NC_000020.11:63445334:C:T p.(Val139=) NC_000020.11:63445334:C:T p.(Val139=) NC_000020.11:63445334:C:T Identity +NM_001145102.2:c.282C>T NP_001138574.1:p.Ser94= NC_000015.10:67166842:C:T p.(Ser94=) NC_000015.10:67166842:C:T p.(Ser94=) NC_000015.10:67166842:C:T Identity +NM_001349253.2:c.4014A>G NP_001336182.1:p.Lys1338= NC_000003.12:38863236:T:C p.(Lys1338=) NC_000003.12:38863236:T:C p.(Lys1338=) NC_000003.12:38863236:T:C Identity +NM_001384158.1:c.858C>T NP_001371087.1:p.Cys286= NC_000014.9:91887196:G:A p.(Cys286=) NC_000014.9:91887196:G:A p.(Cys286=) NC_000014.9:91887196:G:A Identity +NM_001206927.2:c.12387C>T NP_001193856.1:p.Cys4129= NC_000006.12:38951455:C:T p.(Cys4129=) NC_000006.12:38951455:C:T p.(Cys4129=) NC_000006.12:38951455:C:T Identity +NM_001220.5:c.1923C>T NP_001211.3:p.Arg641= NC_000007.14:44220139:G:A p.(Arg641=) NC_000007.14:44220139:G:A p.(Arg641=) NC_000007.14:44220139:G:A Identity +NM_001160147.2:c.456G>C NP_001153619.1:p.Ala152= NC_000014.9:53152642:C:G p.(Ala152=) NC_000014.9:53152642:C:G p.(Ala152=) NC_000014.9:53152642:C:G Identity +NM_001256850.1:c.50490T>C NP_001243779.1:p.Asn16830= NC_000002.12:178601676:A:G p.(Asn16830=) NC_000002.12:178601676:A:G p.(Asn16830=) NC_000002.12:178601676:A:G Identity +NM_001080397.3:c.2208T>G NP_001073866.3:p.Ala736= NC_000001.11:8343973:T:G p.(Ala736=) NC_000001.11:8343973:T:G p.(Ala736=) NC_000001.11:8343973:T:G Identity +NM_001999.4:c.2457G>A NP_001990.2:p.Leu819= NC_000005.10:128361819:C:T p.(Leu819=) NC_000005.10:128361819:C:T p.(Leu819=) NC_000005.10:128361819:C:T Identity +NM_001105558.1:c.1350C>T NP_001099028.1:p.Asp450= NC_000007.14:141725153:C:T p.(Asp450=) NC_000007.14:141725153:C:T p.(Asp450=) NC_000007.14:141725153:C:T Identity +NM_000448.3:c.2487_2488delinsTT NP_000439.2:p.Arg829_Lys830delinsSerTer NC_000011.10:36575790:GA:TT p.(Arg829_Lys830delinsSerTer) NC_000011.10:36575790:GA:TT p.(Arg829_Lys830delinsSerTer) NC_000011.10:36575790:GA:TT Identity +NM_021072.4:c.1977C>T NP_066550.2:p.Arg659= NC_000005.10:45262616:G:A p.(Arg659=) NC_000005.10:45262616:G:A p.(Arg659=) NC_000005.10:45262616:G:A Identity +NM_206933.4:c.10398C>T NP_996816.3:p.Leu3466= NC_000001.11:215782924:G:A p.(Leu3466=) NC_000001.11:215782924:G:A p.(Leu3466=) NC_000001.11:215782924:G:A Identity +NM_000317.3:c.159T>C NP_000308.1:p.Tyr53= NC_000011.10:112228668:T:C p.(Tyr53=) NC_000011.10:112228668:T:C p.(Tyr53=) NC_000011.10:112228668:T:C Identity +NM_001130455.2:c.702G>A NP_001123927.1:p.Pro234= NC_000002.12:71515657:G:A p.(Pro234=) NC_000002.12:71515657:G:A p.(Pro234=) NC_000002.12:71515657:G:A Identity +NM_001165963.4:c.3807A>C NP_001159435.1:p.Leu1269= NC_000002.12:166012180:T:G p.(Leu1269=) NC_000002.12:166012180:T:G p.(Leu1269=) NC_000002.12:166012180:T:G Identity +NM_001177984.3:c.2928C>T NP_001171455.1:p.Leu976= NC_000012.12:51768890:C:T p.(Leu976=) NC_000012.12:51768890:C:T p.(Leu976=) NC_000012.12:51768890:C:T Identity +NM_001005505.3:c.2580G>A NP_001005505.1:p.Gln860= NC_000003.12:50366839:C:T p.(Gln860=) NC_000003.12:50366839:C:T p.(Gln860=) NC_000003.12:50366839:C:T Identity +NM_000353.3:c.57C>T NP_000344.1:p.Asp19= NC_000016.10:71576358:G:A p.(Asp19=) NC_000016.10:71576358:G:A p.(Asp19=) NC_000016.10:71576358:G:A Identity +NM_006231.4:c.4053T>G NP_006222.2:p.Val1351= NC_000012.12:132649024:A:C p.(Val1351=) NC_000012.12:132649024:A:C p.(Val1351=) NC_000012.12:132649024:A:C Identity +NM_001042473.4:c.375T>C NP_001035938.1:p.Asp125= NC_000010.11:27223347:A:G p.(Asp125=) NC_000010.11:27223347:A:G p.(Asp125=) NC_000010.11:27223347:A:G Identity +NM_000760.4:c.885C>T NP_000751.1:p.Cys295= NC_000001.11:36472349:G:A p.(Cys295=) NC_000001.11:36472349:G:A p.(Cys295=) NC_000001.11:36472349:G:A Identity +NM_001363759.2:c.5929C>T NP_001350688.1:p.Leu1977= NC_000009.12:128624423:C:T p.(Leu1977=) NC_000009.12:128624423:C:T p.(Leu1977=) NC_000009.12:128624423:C:T Identity +NM_001252020.2:c.3600G>A NP_001238949.1:p.Gln1200= NC_000015.10:31026218:C:T p.(Gln1200=) NC_000015.10:31026218:C:T p.(Gln1200=) NC_000015.10:31026218:C:T Identity +NM_001261406.2:c.1431A>T NP_001248335.1:p.Thr477= NC_000009.12:13205958:T:A p.(Thr477=) NC_000009.12:13205958:T:A p.(Thr477=) NC_000009.12:13205958:T:A Identity +NM_015335.5:c.4839G>A NP_056150.1:p.Gly1613= NC_000012.12:115983232:C:T p.(Gly1613=) NC_000012.12:115983232:C:T p.(Gly1613=) NC_000012.12:115983232:C:T Identity +NM_001122633.3:c.726G>A NP_001116105.2:p.Val242= NC_000002.12:210590119:G:A p.(Val242=) NC_000002.12:210590119:G:A p.(Val242=) NC_000002.12:210590119:G:A Identity +NM_001278055.2:c.111T>G NP_001264984.1:p.Pro37= NC_000013.11:23358386:A:C p.(Pro37=) NC_000013.11:23358386:A:C p.(Pro37=) NC_000013.11:23358386:A:C Identity +NM_020988.3:c.54G>A NP_066268.1:p.Ala18= NC_000016.10:56192288:G:A p.(Ala18=) NC_000016.10:56192288:G:A p.(Ala18=) NC_000016.10:56192288:G:A Identity +NM_001079812.3:c.3438G>A NP_001073280.1:p.Arg1146= NC_000005.10:141526146:C:T p.(Arg1146=) NC_000005.10:141526146:C:T p.(Arg1146=) NC_000005.10:141526146:C:T Identity +NM_001958.5:c.717G>A NP_001949.1:p.Thr239= NC_000020.11:63493191:C:T p.(Thr239=) NC_000020.11:63493191:C:T p.(Thr239=) NC_000020.11:63493191:C:T Identity +NM_000090.4:c.1743C>T NP_000081.2:p.Pro581= NC_000002.12:188996477:C:T p.(Pro581=) NC_000002.12:188996477:C:T p.(Pro581=) NC_000002.12:188996477:C:T Identity +NM_001256182.2:c.7152G>A NP_001243111.1:p.Pro2384= NC_000016.10:89279389:C:T p.(Pro2384=) NC_000016.10:89279389:C:T p.(Pro2384=) NC_000016.10:89279389:C:T Identity +NM_020461.4:c.3693C>T NP_065194.3:p.Asp1231= NC_000022.11:50220665:G:A p.(Asp1231=) NC_000022.11:50220665:G:A p.(Asp1231=) NC_000022.11:50220665:G:A Identity +NM_021072.4:c.2565A>G NP_066550.2:p.Gly855= NC_000005.10:45262028:T:C p.(Gly855=) NC_000005.10:45262028:T:C p.(Gly855=) NC_000005.10:45262028:T:C Identity +NM_001371411.1:c.366C>T NP_001358340.1:p.Ala122= NC_000002.12:227699348:G:A p.(Ala122=) NC_000002.12:227699348:G:A p.(Ala122=) NC_000002.12:227699348:G:A Identity +NM_021072.4:c.1950A>G NP_066550.2:p.Thr650= NC_000005.10:45262643:T:C p.(Thr650=) NC_000005.10:45262643:T:C p.(Thr650=) NC_000005.10:45262643:T:C Identity +NM_001165963.4:c.1875C>A NP_001159435.1:p.Thr625= NC_000002.12:166043836:G:T p.(Thr625=) NC_000002.12:166043836:G:T p.(Thr625=) NC_000002.12:166043836:G:T Identity +NM_000891.3:c.597C>T NP_000882.1:p.Ala199= NC_000017.11:70175635:C:T p.(Ala199=) NC_000017.11:70175635:C:T p.(Ala199=) NC_000017.11:70175635:C:T Identity +NM_000317.3:c.144C>T NP_000308.1:p.Gly48= NC_000011.10:112228653:C:T p.(Gly48=) NC_000011.10:112228653:C:T p.(Gly48=) NC_000011.10:112228653:C:T Identity +NM_001130438.3:c.6198C>T NP_001123910.1:p.Leu2066= NC_000009.12:128625896:C:T p.(Leu2066=) NC_000009.12:128625896:C:T p.(Leu2066=) NC_000009.12:128625896:C:T Identity +NM_005982.4:c.720C>T NP_005973.1:p.His240= NC_000014.9:60646417:G:A p.(His240=) NC_000014.9:60646417:G:A p.(His240=) NC_000014.9:60646417:G:A Identity +NM_000352.6:c.639G>A NP_000343.2:p.Leu213= NC_000011.10:17461765:C:T p.(Leu213=) NC_000011.10:17461765:C:T p.(Leu213=) NC_000011.10:17461765:C:T Identity +NM_001005505.3:c.2280C>G NP_001005505.1:p.Thr760= NC_000003.12:50367658:G:C p.(Thr760=) NC_000003.12:50367658:G:C p.(Thr760=) NC_000003.12:50367658:G:C Identity +NM_001164097.2:c.2586T>G NP_001157569.1:p.Val862= NC_000005.10:83538549:T:G p.(Val862=) NC_000005.10:83538549:T:G p.(Val862=) NC_000005.10:83538549:T:G Identity +NM_001172631.3:c.2022C>T NP_001166102.1:p.Pro674= NC_000014.9:102434838:C:T p.(Pro674=) NC_000014.9:102434838:C:T p.(Pro674=) NC_000014.9:102434838:C:T Identity +NM_001018037.2:c.4920G>A NP_001018047.1:p.Thr1640= NC_000009.12:77318314:G:A p.(Thr1640=) NC_000009.12:77318314:G:A p.(Thr1640=) NC_000009.12:77318314:G:A Identity +NM_001283009.2:c.2109G>A NP_001269938.1:p.Gln703= NC_000020.11:63689832:G:A p.(Gln703=) NC_000020.11:63689832:G:A p.(Gln703=) NC_000020.11:63689832:G:A Identity +NM_021072.4:c.1218G>A NP_066550.2:p.Gln406= NC_000005.10:45396503:C:T p.(Gln406=) NC_000005.10:45396503:C:T p.(Gln406=) NC_000005.10:45396503:C:T Identity +NM_001145527.2:c.1050G>A NP_001138999.1:p.Glu350= NC_000009.12:137743969:G:A p.(Glu350=) NC_000009.12:137743969:G:A p.(Glu350=) NC_000009.12:137743969:G:A Identity +NM_001177431.1:c.669C>T NP_001170902.1:p.Leu223= NC_000012.12:109800699:G:A p.(Leu223=) NC_000012.12:109800699:G:A p.(Leu223=) NC_000012.12:109800699:G:A Identity +NM_017890.5:c.4908T>C NP_060360.3:p.Ile1636= NC_000008.11:99556536:T:C p.(Ile1636=) NC_000008.11:99556536:T:C p.(Ile1636=) NC_000008.11:99556536:T:C Identity +NM_001177428.1:c.2208G>A NP_001170899.1:p.Val736= NC_000012.12:109784424:C:T p.(Val736=) NC_000012.12:109784424:C:T p.(Val736=) NC_000012.12:109784424:C:T Identity +NM_139318.5:c.1719C>T NP_647479.2:p.Pro573= NC_000014.9:62802431:G:A p.(Pro573=) NC_000014.9:62802431:G:A p.(Pro573=) NC_000014.9:62802431:G:A Identity +NM_001365536.1:c.2052C>T NP_001352465.1:p.Asn684= NC_000002.12:166281730:G:A p.(Asn684=) NC_000002.12:166281730:G:A p.(Asn684=) NC_000002.12:166281730:G:A Identity +NM_001005505.3:c.2250C>T NP_001005505.1:p.Ala750= NC_000003.12:50367688:G:A p.(Ala750=) NC_000003.12:50367688:G:A p.(Ala750=) NC_000003.12:50367688:G:A Identity +NM_001278055.2:c.9084A>G NP_001264984.1:p.Thr3028= NC_000013.11:23334350:T:C p.(Thr3028=) NC_000013.11:23334350:T:C p.(Thr3028=) NC_000013.11:23334350:T:C Identity +NM_000180.4:c.3282G>A NP_000171.1:p.Leu1094= NC_000017.11:8016499:G:A p.(Leu1094=) NC_000017.11:8016499:G:A p.(Leu1094=) NC_000017.11:8016499:G:A Identity +NM_000501.4:c.213G>A NP_000492.2:p.Ala71= NC_000007.14:74041231:G:A p.(Ala71=) NC_000007.14:74041231:G:A p.(Ala71=) NC_000007.14:74041231:G:A Identity +NM_000053.4:c.3252A>C NP_000044.2:p.Gly1084= NC_000013.11:51942545:T:G p.(Gly1084=) NC_000013.11:51942545:T:G p.(Gly1084=) NC_000013.11:51942545:T:G Identity +NM_001031847.3:c.741G>A NP_001027017.1:p.Pro247= NC_000011.10:68796885:C:T p.(Pro247=) NC_000011.10:68796885:C:T p.(Pro247=) NC_000011.10:68796885:C:T Identity +NM_000521.4:c.276C>A NP_000512.2:p.Thr92= NC_000005.10:74685535:C:A p.(Thr92=) NC_000005.10:74685535:C:A p.(Thr92=) NC_000005.10:74685535:C:A Identity +LRG_1327t1:c.405C>T LRG_1327p1:p.Asp135= NC_000003.12:53181471:C:T ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_001164665.2:c.336G>A NP_001158137.1:p.Pro112= NC_000007.14:138919289:C:T p.(Pro112=) NC_000007.14:138919289:C:T p.(Pro112=) NC_000007.14:138919289:C:T Identity +NM_001172696.2:c.858C>G NP_001166167.1:p.Pro286= NC_000012.12:57796399:C:G p.(Pro286=) NC_000012.12:57796399:C:G p.(Pro286=) NC_000012.12:57796399:C:G Identity +NM_001177984.3:c.3219C>T NP_001171455.1:p.Ser1073= NC_000012.12:51769181:C:T p.(Ser1073=) NC_000012.12:51769181:C:T p.(Ser1073=) NC_000012.12:51769181:C:T Identity +NM_139318.5:c.2445G>A NP_647479.2:p.Lys815= NC_000014.9:62708029:C:T p.(Lys815=) NC_000014.9:62708029:C:T p.(Lys815=) NC_000014.9:62708029:C:T Identity +NM_001308164.2:c.1368C>T NP_001295093.1:p.Ser456= NC_000003.12:158660962:C:T p.(Ser456=) NC_000003.12:158660962:C:T p.(Ser456=) NC_000003.12:158660962:C:T Identity +NM_001252020.2:c.3057C>T NP_001238949.1:p.Phe1019= NC_000015.10:31031103:G:A p.(Phe1019=) NC_000015.10:31031103:G:A p.(Phe1019=) NC_000015.10:31031103:G:A Identity +NM_001130438.3:c.4128A>T NP_001123910.1:p.Ala1376= NC_000009.12:128607684:A:T p.(Ala1376=) NC_000009.12:128607684:A:T p.(Ala1376=) NC_000009.12:128607684:A:T Identity +NM_001130438.3:c.6366C>T NP_001123910.1:p.Pro2122= NC_000009.12:128626476:C:T p.(Pro2122=) NC_000009.12:128626476:C:T p.(Pro2122=) NC_000009.12:128626476:C:T Identity +NM_001270459.2:c.846C>T NP_001257388.1:p.His282= NC_000001.11:43920825:C:T p.(His282=) NC_000001.11:43920825:C:T p.(His282=) NC_000001.11:43920825:C:T Identity +NM_001130438.3:c.5817A>G NP_001123910.1:p.Gln1939= NC_000009.12:128621240:A:G p.(Gln1939=) NC_000009.12:128621240:A:G p.(Gln1939=) NC_000009.12:128621240:A:G Identity +NM_003907.3:c.840G>A NP_003898.2:p.Glu280= NC_000003.12:184140153:G:A p.(Glu280=) NC_000003.12:184140153:G:A p.(Glu280=) NC_000003.12:184140153:G:A Identity +NM_001123226.2:c.1137T>C NP_001116698.1:p.Gly379= NC_000006.12:73480681:T:C p.(Gly379=) NC_000006.12:73480681:T:C p.(Gly379=) NC_000006.12:73480681:T:C Identity +NM_139318.5:c.597G>T NP_647479.2:p.Ala199= NC_000014.9:62981216:C:A p.(Ala199=) NC_000014.9:62981216:C:A p.(Ala199=) NC_000014.9:62981216:C:A Identity +NM_001130438.3:c.4677T>C NP_001123910.1:p.Asp1559= NC_000009.12:128609202:T:C p.(Asp1559=) NC_000009.12:128609202:T:C p.(Asp1559=) NC_000009.12:128609202:T:C Identity +NM_015180.6:c.19023C>A NP_055995.4:p.Ser6341= NC_000014.9:64212971:C:A p.(Ser6341=) NC_000014.9:64212971:C:A p.(Ser6341=) NC_000014.9:64212971:C:A Identity +NM_001200.4:c.1110G>A NP_001191.1:p.Ser370= NC_000020.11:6779007:G:A p.(Ser370=) NC_000020.11:6779007:G:A p.(Ser370=) NC_000020.11:6779007:G:A Identity +NM_001005505.3:c.3120G>T NP_001005505.1:p.Leu1040= NC_000003.12:50365162:C:A p.(Leu1040=) NC_000003.12:50365162:C:A p.(Leu1040=) NC_000003.12:50365162:C:A Identity +NM_001382235.1:c.1672C>T NP_001369164.1:p.Leu558= NC_000020.11:63413486:G:A p.(Leu558=) NC_000020.11:63413486:G:A p.(Leu558=) NC_000020.11:63413486:G:A Identity +NM_001122752.2:c.1116C>T NP_001116224.1:p.Val372= NC_000003.12:167824521:C:T p.(Val372=) NC_000003.12:167824521:C:T p.(Val372=) NC_000003.12:167824521:C:T Identity +NM_001166292.2:c.1380C>T NP_001159764.1:p.Pro460= NC_000001.11:44829065:G:A p.(Pro460=) NC_000001.11:44829065:G:A p.(Pro460=) NC_000001.11:44829065:G:A Identity +NM_001267550.2:c.35577A>G NP_001254479.2:p.Glu11859= NC_000002.12:178667689:T:C p.(Glu11859=) NC_000002.12:178667689:T:C p.(Glu11859=) NC_000002.12:178667689:T:C Identity +NM_000260.4:c.2082G>A NP_000251.3:p.Pro694= NC_000011.10:77174901:G:A p.(Pro694=) NC_000011.10:77174901:G:A p.(Pro694=) NC_000011.10:77174901:G:A Identity +NM_001165963.4:c.1326C>T NP_001159435.1:p.Ala442= NC_000002.12:166046820:G:A p.(Ala442=) NC_000002.12:166046820:G:A p.(Ala442=) NC_000002.12:166046820:G:A Identity +NM_016941.4:c.1500C>T NP_058637.1:p.Leu500= NC_000019.10:39507444:C:T p.(Leu500=) NC_000019.10:39507444:C:T p.(Leu500=) NC_000019.10:39507444:C:T Identity +NM_001005505.3:c.147G>A NP_001005505.1:p.Pro49= NC_000003.12:50503276:C:T p.(Pro49=) NC_000003.12:50503276:C:T p.(Pro49=) NC_000003.12:50503276:C:T Identity +NM_001256850.1:c.82755A>T NP_001243779.1:p.Ser27585= NC_000002.12:178557675:T:A p.(Ser27585=) NC_000002.12:178557675:T:A p.(Ser27585=) NC_000002.12:178557675:T:A Identity +NM_005188.4:c.1911C>T NP_005179.2:p.Leu637= NC_000011.10:119285535:C:T p.(Leu637=) NC_000011.10:119285535:C:T p.(Leu637=) NC_000011.10:119285535:C:T Identity +NM_001256850.1:c.59239T>C NP_001243779.1:p.Leu19747= NC_000002.12:178586738:A:G p.(Leu19747=) NC_000002.12:178586738:A:G p.(Leu19747=) NC_000002.12:178586738:A:G Identity +NM_000288.4:c.237C>T NP_000279.1:p.Asn79= NC_000006.12:136826366:C:T p.(Asn79=) NC_000006.12:136826366:C:T p.(Asn79=) NC_000006.12:136826366:C:T Identity +NM_001005505.3:c.1311G>A NP_001005505.1:p.Pro437= NC_000003.12:50378942:C:T p.(Pro437=) NC_000003.12:50378942:C:T p.(Pro437=) NC_000003.12:50378942:C:T Identity +NM_001256850.1:c.22734C>T NP_001243779.1:p.Pro7578= NC_000002.12:178719806:G:A p.(Pro7578=) NC_000002.12:178719806:G:A p.(Pro7578=) NC_000002.12:178719806:G:A Identity +NM_021072.4:c.192T>C NP_066550.2:p.Gly64= NC_000005.10:45695901:A:G p.(Gly64=) NC_000005.10:45695901:A:G p.(Gly64=) NC_000005.10:45695901:A:G Identity +NM_000053.4:c.3303A>C NP_000044.2:p.Gly1101= NC_000013.11:51942494:T:G p.(Gly1101=) NC_000013.11:51942494:T:G p.(Gly1101=) NC_000013.11:51942494:T:G Identity +NM_025014.2:c.780C>G NP_079290.1:p.Ala260= NC_000017.11:8313099:C:G p.(Ala260=) NC_000017.11:8313099:C:G p.(Ala260=) NC_000017.11:8313099:C:G Identity +NM_000203.5:c.1395C>T NP_000194.2:p.Pro465= NC_000004.12:1002936:C:T p.(Pro465=) NC_000004.12:1002936:C:T p.(Pro465=) NC_000004.12:1002936:C:T Identity +NM_001320632.2:c.1008C>T NP_001307561.1:p.Thr336= NC_000002.12:127050858:G:A p.(Thr336=) NC_000002.12:127050858:G:A p.(Thr336=) NC_000002.12:127050858:G:A Identity +NM_021072.4:c.2025C>T NP_066550.2:p.His675= NC_000005.10:45262568:G:A p.(His675=) NC_000005.10:45262568:G:A p.(His675=) NC_000005.10:45262568:G:A Identity +NM_001313741.1:c.2430G>A NP_001300670.1:p.Ser810= NC_000013.11:25769210:G:A p.(Ser810=) NC_000013.11:25769210:G:A p.(Ser810=) NC_000013.11:25769210:G:A Identity +NM_000565.4:c.51A>G NP_000556.1:p.Gly17= NC_000001.11:154405679:A:G p.(Gly17=) NC_000001.11:154405679:A:G p.(Gly17=) NC_000001.11:154405679:A:G Identity +NM_001160130.2:c.1662A>G NP_001153602.1:p.Arg554= NC_000006.12:73190683:A:G p.(Arg554=) NC_000006.12:73190683:A:G p.(Arg554=) NC_000006.12:73190683:A:G Identity +NM_015072.5:c.1576T>C NP_055887.3:p.Leu526= NC_000014.9:75764639:T:C p.(Leu526=) NC_000014.9:75764639:T:C p.(Leu526=) NC_000014.9:75764639:T:C Identity +NM_001271466.4:c.1818G>T NP_001258395.2:p.Leu606= NC_000002.12:231331836:G:T p.(Leu606=) NC_000002.12:231331836:G:T p.(Leu606=) NC_000002.12:231331836:G:T Identity +NM_001127487.2:c.1953C>T NP_001120959.1:p.Asp651= NC_000007.14:128841308:C:T p.(Asp651=) NC_000007.14:128841308:C:T p.(Asp651=) NC_000007.14:128841308:C:T Identity +NM_000395.3:c.2526G>A NP_000386.1:p.Pro842= NC_000022.11:36938333:G:A p.(Pro842=) NC_000022.11:36938333:G:A p.(Pro842=) NC_000022.11:36938333:G:A Identity +NM_001346279.2:c.2097C>T NP_001333208.1:p.Ser699= NC_000011.10:10768478:C:T p.(Ser699=) NC_000011.10:10768478:C:T p.(Ser699=) NC_000011.10:10768478:C:T Identity +NM_000721.4:c.3207C>T NP_000712.2:p.Ser1069= NC_000001.11:181733694:C:T p.(Ser1069=) NC_000001.11:181733694:C:T p.(Ser1069=) NC_000001.11:181733694:C:T Identity +NM_001378442.1:c.2052G>A NP_001365371.1:p.Thr684= NC_000002.12:230170692:C:T p.(Thr684=) NC_000002.12:230170692:C:T p.(Thr684=) NC_000002.12:230170692:C:T Identity +NM_006767.4:c.54C>G NP_006758.2:p.Gly18= NC_000022.11:20982424:C:G p.(Gly18=) NC_000022.11:20982424:C:G p.(Gly18=) NC_000022.11:20982424:C:G Identity +NM_001077397.1:c.597G>A NP_001070865.1:p.Leu199= NC_000001.11:234608897:C:T p.(Leu199=) NC_000001.11:234608897:C:T p.(Leu199=) NC_000001.11:234608897:C:T Identity +NM_001127717.4:c.4515T>C NP_001121189.2:p.Asp1505= NC_000018.10:23861737:T:C p.(Asp1505=) NC_000018.10:23861737:T:C p.(Asp1505=) NC_000018.10:23861737:T:C Identity +NM_001100913.3:c.348G>A NP_001094383.2:p.Gln116= NC_000014.9:105355101:G:A p.(Gln116=) NC_000014.9:105355101:G:A p.(Gln116=) NC_000014.9:105355101:G:A Identity +NM_000214.3:c.414G>A NP_000205.1:p.Ala138= NC_000020.11:10663987:C:T p.(Ala138=) NC_000020.11:10663987:C:T p.(Ala138=) NC_000020.11:10663987:C:T Identity +NM_002745.5:c.5CGG[7] NP_002736.3:p.Ala7dup NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC p.(Ala7dup) NC_000022.11:21867435:G:CCGCCGCCGCCGCCGCCGCCG ERR:Parse ERR:Parse Identity +NM_024496.4:c.491_492insCGC NP_078772.1:p.Ala164dup NC_000014.9:77027301:GC:GCGGC p.(Ala164dup) NC_000014.9:77027300:C:GCG p.(Ala164dup) NC_000014.9:77027301:CG:GCG Identity +NM_003104.6:c.570C>T NP_003095.2:p.Leu190= NC_000015.10:45068205:C:T p.(Leu190=) NC_000015.10:45068205:C:T p.(Leu190=) NC_000015.10:45068205:C:T Identity +NM_006003.3:c.519C>G NP_005994.2:p.Pro173= NC_000019.10:29207853:G:C p.(Pro173=) NC_000019.10:29207853:G:C p.(Pro173=) NC_000019.10:29207853:G:C Identity +NM_001367562.3:c.156C>T NP_001354491.2:p.Pro52= NC_000007.14:75954156:C:T p.(Pro52=) NC_000007.14:75954156:C:T p.(Pro52=) NC_000007.14:75954156:C:T Identity +NM_001166418.2:c.483C>T NP_001159890.1:p.Tyr161= NC_000023.11:72464712:G:A p.(Tyr161=) NC_000023.11:72464712:G:A p.(Tyr161=) NC_000023.11:72464712:G:A Identity +NM_001278552.2:c.1098G>A NP_001265481.1:p.Thr366= NC_000002.12:219250555:C:T p.(Thr366=) NC_000002.12:219250555:C:T p.(Thr366=) NC_000002.12:219250555:C:T Identity +NM_001304811.2:c.627G>A NP_001291740.1:p.Ser209= NC_000012.12:4525354:C:T p.(Ser209=) NC_000012.12:4525354:C:T p.(Ser209=) NC_000012.12:4525354:C:T Identity +NM_001110792.2:c.840G>A NP_001104262.1:p.Arg280= NC_000023.11:154031023:C:T p.(Arg280=) NC_000023.11:154031023:C:T p.(Arg280=) NC_000023.11:154031023:C:T Identity +NM_002850.4:c.5082G>A NP_002841.3:p.Thr1694= NC_000019.10:5211741:C:T p.(Thr1694=) NC_000019.10:5211741:C:T p.(Thr1694=) NC_000019.10:5211741:C:T Identity +NM_177924.5:c.36G>A NP_808592.2:p.Leu12= NC_000008.11:18084022:C:T p.(Leu12=) NC_000008.11:18084022:C:T p.(Leu12=) NC_000008.11:18084022:C:T Identity +NM_001352253.3:c.123C>T NP_001339182.1:p.Ala41= NC_000013.11:110705970:G:A p.(Ala41=) NC_000013.11:110705970:G:A p.(Ala41=) NC_000013.11:110705970:G:A Identity +NM_001278192.2:c.1191T>C NP_001265121.1:p.Tyr397= NC_000011.10:62630424:A:G p.(Tyr397=) NC_000011.10:62630424:A:G p.(Tyr397=) NC_000011.10:62630424:A:G Identity +NM_001367624.2:c.6696C>T NP_001354553.1:p.Ser2232= NC_000016.10:88434165:C:T p.(Ser2232=) NC_000016.10:88434165:C:T p.(Ser2232=) NC_000016.10:88434165:C:T Identity +NM_000162.5:c.138G>A NP_000153.1:p.Arg46= NC_000007.14:44153370:C:T p.(Arg46=) NC_000007.14:44153370:C:T p.(Arg46=) NC_000007.14:44153370:C:T Identity +NM_001079846.1:c.2325G>A NP_001073315.1:p.Pro775= NC_000016.10:3773774:C:T p.(Pro775=) NC_000016.10:3773774:C:T p.(Pro775=) NC_000016.10:3773774:C:T Identity +NM_007118.4:c.33C>T NP_009049.2:p.Pro11= NC_000005.10:14143757:C:T p.(Pro11=) NC_000005.10:14143757:C:T p.(Pro11=) NC_000005.10:14143757:C:T Identity +NM_001032283.3:c.654G>A NP_001027454.1:p.Glu218= NC_000012.12:98537562:G:A p.(Glu218=) NC_000012.12:98537562:G:A p.(Glu218=) NC_000012.12:98537562:G:A Identity +NM_080473.5:c.678C>T NP_536721.1:p.Leu226= NC_000020.11:62473423:G:A p.(Leu226=) NC_000020.11:62473423:G:A p.(Leu226=) NC_000020.11:62473423:G:A Identity +NM_001194946.2:c.2997A>G NP_001181875.2:p.Pro999= NC_000003.12:184325493:A:G p.(Pro999=) NC_000003.12:184325493:A:G p.(Pro999=) NC_000003.12:184325493:A:G Identity +NM_030632.3:c.4752T>C NP_085135.1:p.Arg1584= NC_000018.10:33744599:T:C p.(Arg1584=) NC_000018.10:33744599:T:C p.(Arg1584=) NC_000018.10:33744599:T:C Identity +NM_000721.4:c.1053C>A NP_000712.2:p.Ser351= NC_000001.11:181651438:C:A p.(Ser351=) NC_000001.11:181651438:C:A p.(Ser351=) NC_000001.11:181651438:C:A Identity +NM_001256182.2:c.7368C>T NP_001243111.1:p.Cys2456= NC_000016.10:89279173:G:A p.(Cys2456=) NC_000016.10:89279173:G:A p.(Cys2456=) NC_000016.10:89279173:G:A Identity +NM_006015.6:c.4773G>T NP_006006.3:p.Leu1591= NC_000001.11:26774999:G:T p.(Leu1591=) NC_000001.11:26774999:G:T p.(Leu1591=) NC_000001.11:26774999:G:T Identity +NM_000021.4:c.96T>C NP_000012.1:p.Asn32= NC_000014.9:73170804:T:C p.(Asn32=) NC_000014.9:73170804:T:C p.(Asn32=) NC_000014.9:73170804:T:C Identity +NM_000457.6:c.534G>A NP_000448.3:p.Ala178= NC_000020.11:44414547:G:A p.(Ala178=) NC_000020.11:44414547:G:A p.(Ala178=) NC_000020.11:44414547:G:A Identity +NM_000832.7:c.264C>T NP_000823.4:p.Tyr88= NC_000009.12:137142017:C:T p.(Tyr88=) NC_000009.12:137142017:C:T p.(Tyr88=) NC_000009.12:137142017:C:T Identity +NM_001372044.2:c.4410C>T NP_001358973.1:p.Thr1470= NC_000022.11:50722017:C:T ERR:TranscriptMismatch:expected C, found G at transcript indices 4779..4780 NC_000022.11:50722056:G:T ERR:NM_001372044.2:c.4410C>T: Variant reference (C) does not agree with reference sequence (G) ERR:NM_001372044.2:c.4410C>T: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001270476.2:c.1161C>T NP_001257405.1:p.Thr387= NC_000006.12:43010939:C:T p.(Thr387=) NC_000006.12:43010939:C:T p.(Thr387=) NC_000006.12:43010939:C:T Identity +NM_002547.3:c.1506T>A NP_002538.1:p.Leu502= NC_000023.11:68111873:A:T p.(Leu502=) NC_000023.11:68111873:A:T p.(Leu502=) NC_000023.11:68111873:A:T Identity +NM_001365953.1:c.2019G>A NP_001352882.1:p.Ser673= NC_000001.11:10303203:G:A p.(Ser673=) NC_000001.11:10303203:G:A p.(Ser673=) NC_000001.11:10303203:G:A Identity +NM_001035.3:c.12552G>A NP_001026.2:p.Glu4184= NC_000001.11:237784263:G:A p.(Glu4184=) NC_000001.11:237784263:G:A p.(Glu4184=) NC_000001.11:237784263:G:A Identity +NM_001330126.1:c.330A>G NP_001317055.1:p.Arg110= NC_000012.12:93738230:A:G p.(Arg110=) NC_000012.12:93738230:A:G p.(Arg110=) NC_000012.12:93738230:A:G Identity +NM_001845.6:c.2397A>G NP_001836.3:p.Pro799= NC_000013.11:110178983:T:C p.(Pro799=) NC_000013.11:110178983:T:C p.(Pro799=) NC_000013.11:110178983:T:C Identity +NM_000257.4:c.5745C>T NP_000248.2:p.Ser1915= NC_000014.9:23413803:G:A p.(Ser1915=) NC_000014.9:23413803:G:A p.(Ser1915=) NC_000014.9:23413803:G:A Identity +NM_001367624.2:c.11223C>T NP_001354553.1:p.Gly3741= NC_000016.10:88438692:C:T p.(Gly3741=) NC_000016.10:88438692:C:T p.(Gly3741=) NC_000016.10:88438692:C:T Identity +NM_014727.3:c.4944C>T NP_055542.1:p.Gly1648= NC_000019.10:35729992:C:T p.(Gly1648=) NC_000019.10:35729992:C:T p.(Gly1648=) NC_000019.10:35729992:C:T Identity +NM_001378454.1:c.8667A>G NP_001365383.1:p.Glu2889= NC_000002.12:73490625:A:G p.(Glu2889=) NC_000002.12:73490625:A:G p.(Glu2889=) NC_000002.12:73490625:A:G Identity +NM_001256850.1:c.1284T>C NP_001243779.1:p.Thr428= NC_000002.12:178794512:A:G p.(Thr428=) NC_000002.12:178794512:A:G p.(Thr428=) NC_000002.12:178794512:A:G Identity +NM_173651.4:c.19356A>G NP_775922.3:p.Lys6452= NC_000002.12:185808661:A:G p.(Lys6452=) NC_000002.12:185808661:A:G p.(Lys6452=) NC_000002.12:185808661:A:G Identity +NM_001145853.1:c.876C>G NP_001139325.1:p.Pro292= NC_000004.12:6300670:C:G p.(Pro292=) NC_000004.12:6300670:C:G p.(Pro292=) NC_000004.12:6300670:C:G Identity +NM_001355019.2:c.225A>C NP_001341948.1:p.Ala75= NC_000005.10:134201913:T:G p.(Ala75=) NC_000005.10:134201913:T:G p.(Ala75=) NC_000005.10:134201913:T:G Identity +NM_022047.4:c.1224C>T NP_071330.3:p.Ala408= NC_000006.12:35319531:C:T p.(Ala408=) NC_000006.12:35319531:C:T p.(Ala408=) NC_000006.12:35319531:C:T Identity +NM_004370.6:c.6945T>C NP_004361.3:p.Asp2315= NC_000006.12:75123330:A:G p.(Asp2315=) NC_000006.12:75123330:A:G p.(Asp2315=) NC_000006.12:75123330:A:G Identity +NM_001007097.3:c.441C>T NP_001007098.1:p.Gly147= NC_000009.12:84710648:C:T p.(Gly147=) NC_000009.12:84710648:C:T p.(Gly147=) NC_000009.12:84710648:C:T Identity +NM_005502.4:c.4167A>G NP_005493.2:p.Thr1389= NC_000009.12:104810807:T:C p.(Thr1389=) NC_000009.12:104810807:T:C p.(Thr1389=) NC_000009.12:104810807:T:C Identity +NM_000718.4:c.5118G>A NP_000709.1:p.Val1706= NC_000009.12:138096506:G:A p.(Val1706=) NC_000009.12:138096506:G:A p.(Val1706=) NC_000009.12:138096506:G:A Identity +NM_002642.4:c.393T>C NP_002633.1:p.Tyr131= NC_000001.11:172442229:A:G p.(Tyr131=) NC_000001.11:172442229:A:G p.(Tyr131=) NC_000001.11:172442229:A:G Identity +NM_006509.4:c.1563C>T NP_006500.2:p.Ala521= NC_000019.10:45037612:C:T p.(Ala521=) NC_000019.10:45037612:C:T p.(Ala521=) NC_000019.10:45037612:C:T Identity +NM_000718.4:c.1470C>T NP_000709.1:p.Cys490= NC_000009.12:137971518:C:T p.(Cys490=) NC_000009.12:137971518:C:T p.(Cys490=) NC_000009.12:137971518:C:T Identity +NM_001135.4:c.2541C>T NP_001126.3:p.Pro847= NC_000015.10:88855125:C:T p.(Pro847=) NC_000015.10:88855125:C:T p.(Pro847=) NC_000015.10:88855125:C:T Identity +NM_001366177.2:c.2859G>A NP_001353106.1:p.Arg953= NC_000001.11:155480010:C:T p.(Arg953=) NC_000001.11:155480010:C:T p.(Arg953=) NC_000001.11:155480010:C:T Identity +NM_000552.5:c.2694C>T NP_000543.3:p.Cys898= NC_000012.12:6031569:G:A p.(Cys898=) NC_000012.12:6031569:G:A p.(Cys898=) NC_000012.12:6031569:G:A Identity +NM_000059.4:c.6533_6538del NP_000050.3:p.His2178_Val2179del NC_000013.11:32340887:ATGTTT: p.(His2178_Val2179del) NC_000013.11:32340887:ATGTTT: p.(His2178_Val2179del) NC_000013.11:32340887:ATGTTT: Identity +NM_024496.4:c.1464C>G NP_078772.1:p.Gly488= NC_000014.9:77026328:G:C p.(Gly488=) NC_000014.9:77026328:G:C p.(Gly488=) NC_000014.9:77026328:G:C Identity +NM_004667.6:c.6615A>G NP_004658.3:p.Ala2205= NC_000015.10:28213912:T:C p.(Ala2205=) NC_000015.10:28213912:T:C p.(Ala2205=) NC_000015.10:28213912:T:C Identity +NM_015721.3:c.2478C>T NP_056536.2:p.Ser826= NC_000017.11:745564:G:A p.(Ser826=) NC_000017.11:745564:G:A p.(Ser826=) NC_000017.11:745564:G:A Identity +NM_001165962.2:c.1281G>A NP_001159434.1:p.Ala427= NC_000017.11:13000177:C:T p.(Ala427=) NC_000017.11:13000177:C:T p.(Ala427=) NC_000017.11:13000177:C:T Identity +NM_001040142.2:c.4353T>G NP_001035232.1:p.Leu1451= NC_000002.12:165380635:T:G p.(Leu1451=) NC_000002.12:165380635:T:G p.(Leu1451=) NC_000002.12:165380635:T:G Identity +NM_173648.4:c.2496A>G NP_775919.3:p.Glu832= NC_000002.12:178868103:T:C p.(Glu832=) NC_000002.12:178868103:T:C p.(Glu832=) NC_000002.12:178868103:T:C Identity +NM_001321193.3:c.660A>G NP_001308122.1:p.Gln220= NC_000003.12:177050038:T:C p.(Gln220=) NC_000003.12:177050038:T:C p.(Gln220=) NC_000003.12:177050038:T:C Identity +NM_000492.4:c.1493_1507del NP_000483.3:p.Met498_Ile502del NC_000007.14:117559559:ATTATGCCTGGCACCATTA:ATTA p.(Met498_Ile502del) NC_000007.14:117559559:ATTATGCCTGGCACCATTA:ATTA p.(Met498_Ile502del) NC_000007.14:117559563:TGCCTGGCACCATTA: Identity +NM_001277971.2:c.798G>T NP_001264900.1:p.Val266= NC_000008.11:43122621:G:T p.(Val266=) NC_000008.11:43122621:G:T p.(Val266=) NC_000008.11:43122621:G:T Identity +NM_001032393.3:c.816T>C NP_001027565.1:p.Ser272= NC_000023.11:101412803:T:C p.(Ser272=) NC_000023.11:101412803:T:C p.(Ser272=) NC_000023.11:101412803:T:C Identity +NM_001315529.2:c.3739C>T NP_001302458.1:p.Leu1247= NC_000021.9:46391252:C:T p.(Leu1247=) NC_000021.9:46391252:C:T p.(Leu1247=) NC_000021.9:46391252:C:T Identity +NM_017934.7:c.2256G>A NP_060404.4:p.Arg752= NC_000006.12:78990930:C:T p.(Arg752=) NC_000006.12:78990930:C:T p.(Arg752=) NC_000006.12:78990930:C:T Identity +NM_001201550.3:c.1131T>A NP_001188479.1:p.Gly377= NC_000001.11:196912872:T:A p.(Gly377=) NC_000001.11:196912872:T:A p.(Gly377=) NC_000001.11:196912872:T:A Identity +NM_001365276.2:c.3345C>T NP_001352205.1:p.Ala1115= NC_000006.12:32084512:G:A p.(Ala1115=) NC_000006.12:32084512:G:A p.(Ala1115=) NC_000006.12:32084512:G:A Identity +NM_000574.5:c.900_917del NP_000565.1:p.Val302_Thr307del NC_000001.11:207336736:ACCACAGTAAATGTTCCAAC:AC p.(Val302_Thr307del) NC_000001.11:207336736:ACCACAGTAAATGTTCCAAC:AC p.(Val302_Thr307del) NC_000001.11:207336738:CACAGTAAATGTTCCAAC: Identity +NM_016653.3:c.414C>T NP_057737.2:p.Asn138= NC_000002.12:173187621:C:T p.(Asn138=) NC_000002.12:173187621:C:T p.(Asn138=) NC_000002.12:173187621:C:T Identity +NM_001303110.2:c.441C>T NP_001290039.1:p.Pro147= NC_000013.11:110211868:G:A p.(Pro147=) NC_000013.11:110211868:G:A p.(Pro147=) NC_000013.11:110211868:G:A Identity +NM_000535.7:c.1239A>G NP_000526.2:p.Lys413= NC_000007.14:5987525:T:C p.(Lys413=) NC_000007.14:5987525:T:C p.(Lys413=) NC_000007.14:5987525:T:C Identity +NM_001291415.2:c.294A>G NP_001278344.1:p.Gln98= NC_000023.11:44961351:A:G p.(Gln98=) NC_000023.11:44961351:A:G p.(Gln98=) NC_000023.11:44961351:A:G Identity +NM_001161580.2:c.234C>A NP_001155052.1:p.Ser78= NC_000003.12:52149856:G:T p.(Ser78=) NC_000003.12:52149856:G:T p.(Ser78=) NC_000003.12:52149856:G:T Identity +NM_000545.8:c.1022del NP_000536.6:p.Pro340_Leu341insTer NC_000012.12:120996326:TT:T p.(Leu341Ter) NC_000012.12:120996326:TT:T p.(Leu341Ter) NC_000012.12:120996327:T: Analogous +NM_000124.4:c.4230G>A NP_000115.1:p.Gly1410= NC_000010.11:49459066:C:T p.(Gly1410=) NC_000010.11:49459066:C:T p.(Gly1410=) NC_000010.11:49459066:C:T Identity +NM_001165963.4:c.3445_3450del NP_001159435.1:p.Ser1151_Ser1152del NC_000002.12:166015706:GCTACTGCT:GCT p.(Ser1151_Ser1152del) NC_000002.12:166015706:GCTACTGCT:GCT p.(Ser1151_Ser1152del) NC_000002.12:166015706:GCTACT: Identity +NM_001382235.1:c.2328C>T NP_001369164.1:p.Gly776= NC_000020.11:63406988:G:A p.(Gly776=) NC_000020.11:63406988:G:A p.(Gly776=) NC_000020.11:63406988:G:A Identity +NM_015335.5:c.4002C>G NP_056150.1:p.Leu1334= NC_000012.12:115987220:G:C p.(Leu1334=) NC_000012.12:115987220:G:C p.(Leu1334=) NC_000012.12:115987220:G:C Identity +NM_139318.5:c.1680C>G NP_647479.2:p.Arg560= NC_000014.9:62802470:G:C p.(Arg560=) NC_000014.9:62802470:G:C p.(Arg560=) NC_000014.9:62802470:G:C Identity +NM_001276479.2:c.1620G>A NP_001263408.1:p.Ser540= NC_000019.10:5696332:C:T p.(Ser540=) NC_000019.10:5696332:C:T p.(Ser540=) NC_000019.10:5696332:C:T Identity +NM_014510.3:c.2631A>G NP_055325.2:p.Thr877= NC_000007.14:83134918:T:C p.(Thr877=) NC_000007.14:83134918:T:C p.(Thr877=) NC_000007.14:83134918:T:C Identity +NM_001408.3:c.6510C>T NP_001399.1:p.Ser2170= NC_000001.11:109268886:C:T p.(Ser2170=) NC_000001.11:109268886:C:T p.(Ser2170=) NC_000001.11:109268886:C:T Identity +NM_005236.3:c.2434T>C NP_005227.1:p.Leu812= NC_000016.10:13948029:T:C p.(Leu812=) NC_000016.10:13948029:T:C p.(Leu812=) NC_000016.10:13948029:T:C Identity +NM_020988.3:c.585C>T NP_066268.1:p.Leu195= NC_000016.10:56334848:C:T p.(Leu195=) NC_000016.10:56334848:C:T p.(Leu195=) NC_000016.10:56334848:C:T Identity +NM_001270949.2:c.657C>T NP_001257878.1:p.Leu219= NC_000018.10:62361719:C:T p.(Leu219=) NC_000018.10:62361719:C:T p.(Leu219=) NC_000018.10:62361719:C:T Identity +NM_001199642.1:c.1257G>A NP_001186571.1:p.Ser419= NC_000003.12:123318066:C:T p.(Ser419=) NC_000003.12:123318066:C:T p.(Ser419=) NC_000003.12:123318066:C:T Identity +NM_001130438.3:c.5136A>T NP_001123910.1:p.Ile1712= NC_000009.12:128613472:A:T p.(Ile1712=) NC_000009.12:128613472:A:T p.(Ile1712=) NC_000009.12:128613472:A:T Identity +NM_001114101.3:c.516G>A NP_001107573.1:p.Ala172= NC_000001.11:22647560:G:A p.(Ala172=) NC_000001.11:22647560:G:A p.(Ala172=) NC_000001.11:22647560:G:A Identity +NM_001271620.2:c.1419C>T NP_001258549.1:p.Thr473= NC_000016.10:49637552:G:A p.(Thr473=) NC_000016.10:49637552:G:A p.(Thr473=) NC_000016.10:49637552:G:A Identity +NM_001165963.4:c.3018T>C NP_001159435.1:p.Asp1006= NC_000002.12:166036458:A:G p.(Asp1006=) NC_000002.12:166036458:A:G p.(Asp1006=) NC_000002.12:166036458:A:G Identity +NM_001304482.2:c.1009T>C NP_001291411.1:p.Leu337= NC_000003.12:47408831:T:C p.(Leu337=) NC_000003.12:47408831:T:C p.(Leu337=) NC_000003.12:47408831:T:C Identity +NM_001330609.2:c.2721A>G NP_001317538.1:p.Gln907= NC_000008.11:125037252:T:C p.(Gln907=) NC_000008.11:125037252:T:C p.(Gln907=) NC_000008.11:125037252:T:C Identity +NM_001177984.3:c.81G>A NP_001171455.1:p.Arg27= NC_000012.12:51662897:G:A p.(Arg27=) NC_000012.12:51662897:G:A p.(Arg27=) NC_000012.12:51662897:G:A Identity +NM_001165963.4:c.2757T>C NP_001159435.1:p.Cys919= NC_000002.12:166037964:A:G p.(Cys919=) NC_000002.12:166037964:A:G p.(Cys919=) NC_000002.12:166037964:A:G Identity +NM_001177984.3:c.1566T>C NP_001171455.1:p.Asp522= NC_000012.12:51706645:T:C p.(Asp522=) NC_000012.12:51706645:T:C p.(Asp522=) NC_000012.12:51706645:T:C Identity +NM_020949.3:c.1020T>C NP_066000.2:p.Ile340= NC_000003.12:170483408:A:G p.(Ile340=) NC_000003.12:170483408:A:G p.(Ile340=) NC_000003.12:170483408:A:G Identity +NM_001257970.1:c.570G>A NP_001244899.1:p.Glu190= NC_000017.11:80184132:G:A p.(Glu190=) NC_000017.11:80184132:G:A p.(Glu190=) NC_000017.11:80184132:G:A Identity +NM_000539.3:c.1032G>A NP_000530.1:p.Gln344= NC_000003.12:129533702:G:A p.(Gln344=) NC_000003.12:129533702:G:A p.(Gln344=) NC_000003.12:129533702:G:A Identity +NM_018230.3:c.1494C>T NP_060700.2:p.Asn498= NC_000001.11:229486376:G:A p.(Asn498=) NC_000001.11:229486376:G:A p.(Asn498=) NC_000001.11:229486376:G:A Identity +NM_005876.5:c.219C>T NP_005867.3:p.Ser73= NC_000002.12:219435195:C:T p.(Ser73=) NC_000002.12:219435195:C:T p.(Ser73=) NC_000002.12:219435195:C:T Identity +NM_000920.4:c.1314G>A NP_000911.2:p.Thr438= NC_000011.10:66863827:C:T p.(Thr438=) NC_000011.10:66863827:C:T p.(Thr438=) NC_000011.10:66863827:C:T Identity +NM_001098209.2:c.891G>A NP_001091679.1:p.Thr297= NC_000003.12:41225815:G:A p.(Thr297=) NC_000003.12:41225815:G:A p.(Thr297=) NC_000003.12:41225815:G:A Identity +NM_001135242.2:c.432C>T NP_001128714.1:p.Tyr144= NC_000008.11:133258383:G:A p.(Tyr144=) NC_000008.11:133258383:G:A p.(Tyr144=) NC_000008.11:133258383:G:A Identity +NM_001130438.3:c.873G>A NP_001123910.1:p.Gln291= NC_000009.12:128577215:G:A p.(Gln291=) NC_000009.12:128577215:G:A p.(Gln291=) NC_000009.12:128577215:G:A Identity +NM_022095.4:c.3123C>T NP_071378.1:p.His1041= NC_000020.11:45952212:G:A p.(His1041=) NC_000020.11:45952212:G:A p.(His1041=) NC_000020.11:45952212:G:A Identity +NM_001407240.1:c.1935A>C NP_001394169.1:p.Pro645= NC_000001.11:55061504:A:C p.(Pro645=) NC_000001.11:55061504:A:C p.(Pro645=) NC_000001.11:55061504:A:C Identity +NM_004766.3:c.102T>C NP_004757.1:p.Leu34= NC_000003.12:139383336:A:G p.(Leu34=) NC_000003.12:139383336:A:G p.(Leu34=) NC_000003.12:139383336:A:G Identity +NM_002661.5:c.2472C>T NP_002652.2:p.Val824= NC_000016.10:81927135:C:T p.(Val824=) NC_000016.10:81927135:C:T p.(Val824=) NC_000016.10:81927135:C:T Identity +NM_000721.4:c.3696C>T NP_000712.2:p.Gly1232= NC_000001.11:181739229:C:T p.(Gly1232=) NC_000001.11:181739229:C:T p.(Gly1232=) NC_000001.11:181739229:C:T Identity +NM_020988.3:c.549T>G NP_066268.1:p.Thr183= NC_000016.10:56334812:T:G p.(Thr183=) NC_000016.10:56334812:T:G p.(Thr183=) NC_000016.10:56334812:T:G Identity +NM_014249.4:c.1182C>T NP_055064.1:p.Thr394= NC_000015.10:71817632:C:T p.(Thr394=) NC_000015.10:71817632:C:T p.(Thr394=) NC_000015.10:71817632:C:T Identity +NM_001348729.2:c.5253G>A NP_001335658.1:p.Pro1751= NC_000002.12:8730785:C:T p.(Pro1751=) NC_000002.12:8730785:C:T p.(Pro1751=) NC_000002.12:8730785:C:T Identity +NM_001013838.3:c.3663C>T NP_001013860.1:p.Gly1221= NC_000016.10:67654857:C:T p.(Gly1221=) NC_000016.10:67654857:C:T p.(Gly1221=) NC_000016.10:67654857:C:T Identity +NM_001257158.2:c.753C>T NP_001244087.1:p.Ser251= NC_000007.14:130400710:G:A p.(Ser251=) NC_000007.14:130400710:G:A p.(Ser251=) NC_000007.14:130400710:G:A Identity +NM_001130438.3:c.6744C>T NP_001123910.1:p.Ser2248= NC_000009.12:128630356:C:T p.(Ser2248=) NC_000009.12:128630356:C:T p.(Ser2248=) NC_000009.12:128630356:C:T Identity +NM_001384474.1:c.2770C>A NP_001371403.1:p.Arg924= NC_000018.10:46560373:G:T p.(Arg924=) NC_000018.10:46560373:G:T p.(Arg924=) NC_000018.10:46560373:G:T Identity +NM_001099400.2:c.81C>T NP_001092870.1:p.Pro27= NC_000007.14:94656017:G:A p.(Pro27=) NC_000007.14:94656017:G:A p.(Pro27=) NC_000007.14:94656017:G:A Identity +NM_000093.5:c.1995C>T NP_000084.3:p.Asp665= NC_000009.12:134763697:C:T p.(Asp665=) NC_000009.12:134763697:C:T p.(Asp665=) NC_000009.12:134763697:C:T Identity +NM_004525.3:c.12978C>T NP_004516.2:p.Tyr4326= NC_000002.12:169145756:G:A p.(Tyr4326=) NC_000002.12:169145756:G:A p.(Tyr4326=) NC_000002.12:169145756:G:A Identity +NM_001101802.3:c.1026A>G NP_001095272.1:p.Lys342= NC_000011.10:45953592:T:C p.(Lys342=) NC_000011.10:45953592:T:C p.(Lys342=) NC_000011.10:45953592:T:C Identity +NM_002238.4:c.1443C>T NP_002229.1:p.Asn481= NC_000001.11:210804104:G:A p.(Asn481=) NC_000001.11:210804104:G:A p.(Asn481=) NC_000001.11:210804104:G:A Identity +NM_001200001.2:c.1911G>A NP_001186930.1:p.Thr637= NC_000001.11:119963577:C:T p.(Thr637=) NC_000001.11:119963577:C:T p.(Thr637=) NC_000001.11:119963577:C:T Identity +NM_001384474.1:c.369G>A NP_001371403.1:p.Leu123= NC_000018.10:46639757:C:T p.(Leu123=) NC_000018.10:46639757:C:T p.(Leu123=) NC_000018.10:46639757:C:T Identity +NM_003079.5:c.819G>A NP_003070.3:p.Leu273= NC_000017.11:40630921:C:T p.(Leu273=) NC_000017.11:40630921:C:T p.(Leu273=) NC_000017.11:40630921:C:T Identity +NM_198525.3:c.2913C>T NP_940927.2:p.Ile971= NC_000015.10:89631692:G:A p.(Ile971=) NC_000015.10:89631692:G:A p.(Ile971=) NC_000015.10:89631692:G:A Identity +NM_032444.4:c.246C>T NP_115820.2:p.Asn82= NC_000016.10:3608718:G:A p.(Asn82=) NC_000016.10:3608718:G:A p.(Asn82=) NC_000016.10:3608718:G:A Identity +NM_001130066.2:c.2901C>T NP_001123538.1:p.Gly967= NC_000006.12:33443494:C:T p.(Gly967=) NC_000006.12:33443494:C:T p.(Gly967=) NC_000006.12:33443494:C:T Identity +NM_001042385.2:c.1536G>A NP_001035844.1:p.Glu512= NC_000002.12:44326735:C:T p.(Glu512=) NC_000002.12:44326735:C:T p.(Glu512=) NC_000002.12:44326735:C:T Identity +NM_001005360.3:c.2079C>T NP_001005360.1:p.His693= NC_000019.10:10829055:C:T p.(His693=) NC_000019.10:10829055:C:T p.(His693=) NC_000019.10:10829055:C:T Identity +NM_001177984.3:c.1926G>A NP_001171455.1:p.Thr642= NC_000012.12:51721835:G:A p.(Thr642=) NC_000012.12:51721835:G:A p.(Thr642=) NC_000012.12:51721835:G:A Identity +NM_001195728.3:c.1290G>A NP_001182657.1:p.Ala430= NC_000011.10:35280970:C:T p.(Ala430=) NC_000011.10:35280970:C:T p.(Ala430=) NC_000011.10:35280970:C:T Identity +NM_032444.4:c.2100G>A NP_115820.2:p.Gly700= NC_000016.10:3594512:C:T p.(Gly700=) NC_000016.10:3594512:C:T p.(Gly700=) NC_000016.10:3594512:C:T Identity +NM_001282237.2:c.2259G>A NP_001269166.1:p.Thr753= NC_000014.9:99174573:C:T p.(Thr753=) NC_000014.9:99174573:C:T p.(Thr753=) NC_000014.9:99174573:C:T Identity +NM_001379141.1:c.990G>A NP_001366070.1:p.Thr330= NC_000018.10:44950329:G:A p.(Thr330=) NC_000018.10:44950329:G:A p.(Thr330=) NC_000018.10:44950329:G:A Identity +NM_001135597.2:c.2034A>G NP_001129069.1:p.Thr678= NC_000002.12:55334786:T:C p.(Thr678=) NC_000002.12:55334786:T:C p.(Thr678=) NC_000002.12:55334786:T:C Identity +NM_001005862.3:c.3159C>A NP_001005862.1:p.Ser1053= NC_000017.11:39727383:C:A p.(Ser1053=) NC_000017.11:39727383:C:A p.(Ser1053=) NC_000017.11:39727383:C:A Identity +NM_001042663.3:c.651C>T NP_001036128.2:p.Pro217= NC_000001.11:6474063:G:A p.(Pro217=) NC_000001.11:6474063:G:A p.(Pro217=) NC_000001.11:6474063:G:A Identity +NM_001244580.2:c.4575G>A NP_001231509.1:p.Pro1525= NC_000007.14:98948267:G:A p.(Pro1525=) NC_000007.14:98948267:G:A p.(Pro1525=) NC_000007.14:98948267:G:A Identity +NM_170606.3:c.5631C>G NP_733751.2:p.Pro1877= NC_000007.14:152182228:G:C p.(Pro1877=) NC_000007.14:152182228:G:C p.(Pro1877=) NC_000007.14:152182228:G:C Identity +NM_001143838.3:c.313C>T NP_001137310.1:p.Leu105= NC_000017.11:6706696:G:A p.(Leu105=) NC_000017.11:6706696:G:A p.(Leu105=) NC_000017.11:6706696:G:A Identity +NM_000382.3:c.903T>C NP_000373.1:p.Ala301= NC_000017.11:19661230:T:C p.(Ala301=) NC_000017.11:19661230:T:C p.(Ala301=) NC_000017.11:19661230:T:C Identity +NM_001005505.3:c.354G>A NP_001005505.1:p.Lys118= NC_000003.12:50434363:C:T p.(Lys118=) NC_000003.12:50434363:C:T p.(Lys118=) NC_000003.12:50434363:C:T Identity +NM_001085049.3:c.540G>A NP_001078518.1:p.Pro180= NC_000003.12:138402181:G:A p.(Pro180=) NC_000003.12:138402181:G:A p.(Pro180=) NC_000003.12:138402181:G:A Identity +NM_001306079.2:c.4143G>T NP_001293008.1:p.Gly1381= NC_000002.12:27236765:G:T p.(Gly1381=) NC_000002.12:27236765:G:T p.(Gly1381=) NC_000002.12:27236765:G:T Identity +NM_001018088.3:c.7494A>G NP_001018098.1:p.Thr2498= NC_000015.10:61919432:T:C p.(Thr2498=) NC_000015.10:61919432:T:C p.(Thr2498=) NC_000015.10:61919432:T:C Identity +NM_004260.4:c.2517C>T NP_004251.4:p.Phe839= NC_000008.11:144513084:G:A p.(Phe839=) NC_000008.11:144513084:G:A p.(Phe839=) NC_000008.11:144513084:G:A Identity +NM_001291285.3:c.13824C>T NP_001278214.1:p.Ser4608= NC_000004.12:125490642:C:T p.(Ser4608=) NC_000004.12:125490642:C:T p.(Ser4608=) NC_000004.12:125490642:C:T Identity +NM_001037333.3:c.540C>T NP_001032410.1:p.Ser180= NC_000005.10:157300866:C:T p.(Ser180=) NC_000005.10:157300866:C:T p.(Ser180=) NC_000005.10:157300866:C:T Identity +NM_001256468.2:c.3702G>A NP_001243397.1:p.Glu1234= NC_000010.11:75029074:G:A p.(Glu1234=) NC_000010.11:75029074:G:A p.(Glu1234=) NC_000010.11:75029074:G:A Identity +NM_139318.5:c.2838C>T NP_647479.2:p.Ser946= NC_000014.9:62707636:G:A p.(Ser946=) NC_000014.9:62707636:G:A p.(Ser946=) NC_000014.9:62707636:G:A Identity +NM_001025205.2:c.237C>T NP_001020376.1:p.Phe79= NC_000003.12:184179018:C:T p.(Phe79=) NC_000003.12:184179018:C:T p.(Phe79=) NC_000003.12:184179018:C:T Identity +NM_001346897.2:c.27A>C NP_001333826.1:p.Ala9= NC_000007.14:55019303:A:C p.(Ala9=) NC_000007.14:55019303:A:C p.(Ala9=) NC_000007.14:55019303:A:C Identity +NM_001005505.3:c.1638C>T NP_001005505.1:p.Asn546= NC_000003.12:50376176:G:A p.(Asn546=) NC_000003.12:50376176:G:A p.(Asn546=) NC_000003.12:50376176:G:A Identity +NM_001165963.4:c.1278C>T NP_001159435.1:p.Tyr426= NC_000002.12:166046868:G:A p.(Tyr426=) NC_000002.12:166046868:G:A p.(Tyr426=) NC_000002.12:166046868:G:A Identity +NM_001256850.1:c.14160T>A NP_001243779.1:p.Ala4720= NC_000002.12:178734812:A:T p.(Ala4720=) NC_000002.12:178734812:A:T p.(Ala4720=) NC_000002.12:178734812:A:T Identity +NM_001382235.1:c.1230G>A NP_001369164.1:p.Pro410= NC_000020.11:63424193:C:T p.(Pro410=) NC_000020.11:63424193:C:T p.(Pro410=) NC_000020.11:63424193:C:T Identity +NM_000272.5:c.684A>G NP_000263.2:p.Val228= NC_000002.12:110165095:T:C p.(Val228=) NC_000002.12:110165095:T:C p.(Val228=) NC_000002.12:110165095:T:C Identity +NM_001379500.1:c.3585C>T NP_001366429.1:p.Ala1195= NC_000021.9:45510152:C:T p.(Ala1195=) NC_000021.9:45510152:C:T p.(Ala1195=) NC_000021.9:45510152:C:T Identity +NM_173689.7:c.555C>T NP_775960.4:p.Leu185= NC_000009.12:123366052:C:T p.(Leu185=) NC_000009.12:123366052:C:T p.(Leu185=) NC_000009.12:123366052:C:T Identity +NM_170606.3:c.14463C>T NP_733751.2:p.Asn4821= NC_000007.14:152139256:G:A p.(Asn4821=) NC_000007.14:152139256:G:A p.(Asn4821=) NC_000007.14:152139256:G:A Identity +NM_001270459.2:c.246A>G NP_001257388.1:p.Ser82= NC_000001.11:43838254:A:G p.(Ser82=) NC_000001.11:43838254:A:G p.(Ser82=) NC_000001.11:43838254:A:G Identity +NM_001282237.2:c.1176C>T NP_001269166.1:p.Asn392= NC_000014.9:99175656:G:A p.(Asn392=) NC_000014.9:99175656:G:A p.(Asn392=) NC_000014.9:99175656:G:A Identity +NM_001170794.2:c.2331C>T NP_001164265.1:p.Pro777= NC_000006.12:89932602:G:A p.(Pro777=) NC_000006.12:89932602:G:A p.(Pro777=) NC_000006.12:89932602:G:A Identity +NM_001394062.1:c.3924G>A NP_001380991.1:p.Ser1308= NC_000001.11:39318593:G:A p.(Ser1308=) NC_000001.11:39318593:G:A p.(Ser1308=) NC_000001.11:39318593:G:A Identity +NM_015346.4:c.1650T>C NP_056161.2:p.Asn550= NC_000014.9:67798611:A:G p.(Asn550=) NC_000014.9:67798611:A:G p.(Asn550=) NC_000014.9:67798611:A:G Identity +NM_001382235.1:c.858G>A NP_001369164.1:p.Gln286= NC_000020.11:63439666:C:T p.(Gln286=) NC_000020.11:63439666:C:T p.(Gln286=) NC_000020.11:63439666:C:T Identity +NM_001367549.1:c.279T>C NP_001354478.1:p.Thr93= NC_000003.12:194459917:A:G p.(Thr93=) NC_000003.12:194459917:A:G p.(Thr93=) NC_000003.12:194459917:A:G Identity +NM_003038.5:c.48G>A NP_003029.2:p.Ala16= NC_000002.12:64989690:G:A p.(Ala16=) NC_000002.12:64989690:G:A p.(Ala16=) NC_000002.12:64989690:G:A Identity +NM_001165963.4:c.1980T>G NP_001159435.1:p.Pro660= NC_000002.12:166043731:A:C p.(Pro660=) NC_000002.12:166043731:A:C p.(Pro660=) NC_000002.12:166043731:A:C Identity +NM_001130067.2:c.2145C>G NP_001123539.1:p.Gly715= NC_000004.12:153334875:C:G p.(Gly715=) NC_000004.12:153334875:C:G p.(Gly715=) NC_000004.12:153334875:C:G Identity +NM_001261406.2:c.4047A>C NP_001248335.1:p.Pro1349= NC_000009.12:13138010:T:G p.(Pro1349=) NC_000009.12:13138010:T:G p.(Pro1349=) NC_000009.12:13138010:T:G Identity +NM_001270507.2:c.2340C>T NP_001257436.1:p.Asn780= NC_000006.12:137881285:C:T p.(Asn780=) NC_000006.12:137881285:C:T p.(Asn780=) NC_000006.12:137881285:C:T Identity +NM_000076.2:c.600A>C NP_000067.1:p.Pro200= NC_000011.10:2884889:T:G p.(Pro200=) NC_000011.10:2884889:T:G p.(Pro200=) NC_000011.10:2884889:T:G Identity +NM_001165963.4:c.5019C>T NP_001159435.1:p.Ile1673= NC_000002.12:165992255:G:A p.(Ile1673=) NC_000002.12:165992255:G:A p.(Ile1673=) NC_000002.12:165992255:G:A Identity +NM_001317012.2:c.90G>A NP_001303941.1:p.Leu30= NC_000020.11:23364472:G:A p.(Leu30=) NC_000020.11:23364472:G:A p.(Leu30=) NC_000020.11:23364472:G:A Identity +NM_001379500.1:c.2517C>T NP_001366429.1:p.Pro839= NC_000021.9:45496507:C:T p.(Pro839=) NC_000021.9:45496507:C:T p.(Pro839=) NC_000021.9:45496507:C:T Identity +NM_004963.4:c.291T>C NP_004954.2:p.Ser97= NC_000012.12:14687989:A:G p.(Ser97=) NC_000012.12:14687989:A:G p.(Ser97=) NC_000012.12:14687989:A:G Identity +NM_001267722.2:c.1341G>A NP_001254651.1:p.Ser447= NC_000004.12:56491451:G:A p.(Ser447=) NC_000004.12:56491451:G:A p.(Ser447=) NC_000004.12:56491451:G:A Identity +NM_000902.5:c.1809C>T NP_000893.2:p.Leu603= NC_000003.12:155168519:C:T p.(Leu603=) NC_000003.12:155168519:C:T p.(Leu603=) NC_000003.12:155168519:C:T Identity +NM_001372.4:c.4377C>T NP_001363.2:p.Val1459= NC_000017.11:11690198:C:T p.(Val1459=) NC_000017.11:11690198:C:T p.(Val1459=) NC_000017.11:11690198:C:T Identity +NM_022166.4:c.2358T>C NP_071449.1:p.Asp786= NC_000016.10:17117844:A:G p.(Asp786=) NC_000016.10:17117844:A:G p.(Asp786=) NC_000016.10:17117844:A:G Identity +NM_139318.5:c.2716T>C NP_647479.2:p.Leu906= NC_000014.9:62707758:A:G p.(Leu906=) NC_000014.9:62707758:A:G p.(Leu906=) NC_000014.9:62707758:A:G Identity +NM_052876.4:c.783G>A NP_443108.1:p.Arg261= NC_000019.10:13135989:G:A p.(Arg261=) NC_000019.10:13135989:G:A p.(Arg261=) NC_000019.10:13135989:G:A Identity +NM_005245.4:c.10788G>A NP_005236.2:p.Gly3596= NC_000004.12:186603737:C:T p.(Gly3596=) NC_000004.12:186603737:C:T p.(Gly3596=) NC_000004.12:186603737:C:T Identity +NM_001165963.4:c.4452T>C NP_001159435.1:p.Asp1484= NC_000002.12:165998061:A:G p.(Asp1484=) NC_000002.12:165998061:A:G p.(Asp1484=) NC_000002.12:165998061:A:G Identity +NM_001330360.2:c.3393T>C NP_001317289.1:p.Asn1131= NC_000023.11:24815074:T:C p.(Asn1131=) NC_000023.11:24815074:T:C p.(Asn1131=) NC_000023.11:24815074:T:C Identity +NM_004565.3:c.81G>A NP_004556.1:p.Pro27= NC_000001.11:10495317:G:A p.(Pro27=) NC_000001.11:10495317:G:A p.(Pro27=) NC_000001.11:10495317:G:A Identity +NM_001197104.2:c.10326C>T NP_001184033.1:p.Ala3442= NC_000011.10:118506217:C:T p.(Ala3442=) NC_000011.10:118506217:C:T p.(Ala3442=) NC_000011.10:118506217:C:T Identity +NM_001291285.3:c.1485T>C NP_001278214.1:p.Ser495= NC_000004.12:125317895:T:C p.(Ser495=) NC_000004.12:125317895:T:C p.(Ser495=) NC_000004.12:125317895:T:C Identity +NM_001348250.2:c.798G>A NP_001335179.1:p.Glu266= NC_000003.12:11025531:G:A p.(Glu266=) NC_000003.12:11025531:G:A p.(Glu266=) NC_000003.12:11025531:G:A Identity +NM_025014.2:c.2091G>A NP_079290.1:p.Gln697= NC_000017.11:8319063:G:A p.(Gln697=) NC_000017.11:8319063:G:A p.(Gln697=) NC_000017.11:8319063:G:A Identity +NM_005045.4:c.7344T>C NP_005036.2:p.Tyr2448= NC_000007.14:103535320:A:G p.(Tyr2448=) NC_000007.14:103535320:A:G p.(Tyr2448=) NC_000007.14:103535320:A:G Identity +NM_000844.4:c.2472G>A NP_000835.1:p.Thr824= NC_000003.12:7680068:G:A p.(Thr824=) NC_000003.12:7680068:G:A p.(Thr824=) NC_000003.12:7680068:G:A Identity +NM_001142466.3:c.675C>T NP_001135938.1:p.Pro225= NC_000016.10:46918694:C:T p.(Pro225=) NC_000016.10:46918694:C:T p.(Pro225=) NC_000016.10:46918694:C:T Identity +NM_001164405.2:c.606G>A NP_001157877.1:p.Gly202= NC_000017.11:1271168:G:A p.(Gly202=) NC_000017.11:1271168:G:A p.(Gly202=) NC_000017.11:1271168:G:A Identity +NM_033198.4:c.363G>A NP_149975.1:p.Ser121= NC_000017.11:28563830:C:T p.(Ser121=) NC_000017.11:28563830:C:T p.(Ser121=) NC_000017.11:28563830:C:T Identity +NM_012327.6:c.1605A>C NP_036459.1:p.Ser535= NC_000018.10:62107054:T:G p.(Ser535=) NC_000018.10:62107054:T:G p.(Ser535=) NC_000018.10:62107054:T:G Identity +NM_001330384.2:c.645T>G NP_001317313.1:p.Pro215= NC_000019.10:15265557:A:C p.(Pro215=) NC_000019.10:15265557:A:C p.(Pro215=) NC_000019.10:15265557:A:C Identity +NM_133379.5:c.13017T>A NP_596870.2:p.Gly4339= NC_000002.12:178749382:A:T p.(Gly4339=) NC_000002.12:178749382:A:T p.(Gly4339=) NC_000002.12:178749382:A:T Identity +NM_001204.7:c.1356C>T NP_001195.2:p.Leu452= NC_000002.12:202542389:C:T p.(Leu452=) NC_000002.12:202542389:C:T p.(Leu452=) NC_000002.12:202542389:C:T Identity +NM_001203263.2:c.1764G>A NP_001190192.2:p.Gly588= NC_000003.12:9933232:G:A p.(Gly588=) NC_000003.12:9933232:G:A p.(Gly588=) NC_000003.12:9933232:G:A Identity +NM_014415.4:c.2244T>C NP_055230.2:p.Ser748= NC_000003.12:101654768:A:G p.(Ser748=) NC_000003.12:101654768:A:G p.(Ser748=) NC_000003.12:101654768:A:G Identity +NM_006950.3:c.1008G>A NP_008881.2:p.Lys336= NC_000023.11:47576378:C:T p.(Lys336=) NC_000023.11:47576378:C:T p.(Lys336=) NC_000023.11:47576378:C:T Identity +NM_001204425.2:c.2955T>C NP_001191354.2:p.Asn985= NC_000013.11:102862741:T:C p.(Asn985=) NC_000013.11:102862741:T:C p.(Asn985=) NC_000013.11:102862741:T:C Identity +NM_001256053.2:c.3403T>C NP_001242982.1:p.Leu1135= NC_000010.11:27035043:A:G p.(Leu1135=) NC_000010.11:27035043:A:G p.(Leu1135=) NC_000010.11:27035043:A:G Identity +NM_021645.6:c.1393T>C NP_067677.4:p.Leu465= NC_000013.11:52030196:T:C p.(Leu465=) NC_000013.11:52030196:T:C p.(Leu465=) NC_000013.11:52030196:T:C Identity +NM_024496.4:c.561G>A NP_078772.1:p.Ala187= NC_000014.9:77027231:C:T p.(Ala187=) NC_000014.9:77027231:C:T p.(Ala187=) NC_000014.9:77027231:C:T Identity +NM_001005271.3:c.5004G>T NP_001005271.2:p.Arg1668= NC_000017.11:7907390:G:T p.(Arg1668=) NC_000017.11:7907390:G:T p.(Arg1668=) NC_000017.11:7907390:G:T Identity +NM_001382235.1:c.2547G>A NP_001369164.1:p.Arg849= NC_000020.11:63406769:C:T p.(Arg849=) NC_000020.11:63406769:C:T p.(Arg849=) NC_000020.11:63406769:C:T Identity +NM_001300761.4:c.75C>T NP_001287690.1:p.Ser25= NC_000004.12:146939898:G:A p.(Ser25=) NC_000004.12:146939898:G:A p.(Ser25=) NC_000004.12:146939898:G:A Identity +NM_015909.4:c.5104del NP_056993.2:p.Phe1701_Met1702insTer NC_000002.12:15287106:T: p.(Met1702Ter) NC_000002.12:15287106:T: p.(Met1702Ter) NC_000002.12:15287106:T: Analogous +NM_001160227.2:c.159T>C NP_001153699.1:p.Ala53= NC_000015.10:44663488:A:G p.(Ala53=) NC_000015.10:44663488:A:G p.(Ala53=) NC_000015.10:44663488:A:G Identity +NM_001037631.3:c.366_367delinsAT NP_001032720.1:p.Met122_Asp123delinsIleTyr NC_000002.12:203870841:GG:AT p.(Met122_Asp123delinsIleTyr) NC_000002.12:203870841:GG:AT p.(Met122_Asp123delinsIleTyr) NC_000002.12:203870841:GG:AT Identity +NM_002473.6:c.2285_2288delinsGGCCACA NP_002464.1:p.Phe762_Phe763delinsTrpProHis NC_000022.11:36304096:AAGA:TGTGGCC p.(Phe762_Phe763delinsTrpProHis) NC_000022.11:36304096:AAGAA:ATGTGGCC p.(Phe762_Phe763delinsTrpProHis) NC_000022.11:36304096:AAGA:TGTGGCC Identity +NM_001289396.2:c.993C>T NP_001276325.1:p.Ile331= NC_000009.12:2047430:C:T p.(Ile331=) NC_000009.12:2047430:C:T p.(Ile331=) NC_000009.12:2047430:C:T Identity +NM_001365276.2:c.3033C>T NP_001352205.1:p.Asp1011= NC_000006.12:32085864:G:A p.(Asp1011=) NC_000006.12:32085864:G:A p.(Asp1011=) NC_000006.12:32085864:G:A Identity +NM_018646.6:c.1338C>T NP_061116.5:p.Asp446= NC_000007.14:142874971:G:A p.(Asp446=) NC_000007.14:142874971:G:A p.(Asp446=) NC_000007.14:142874971:G:A Identity +NM_001098623.2:c.11544G>C NP_001092093.2:p.Leu3848= NC_000001.11:228294927:G:C p.(Leu3848=) NC_000001.11:228294927:G:C p.(Leu3848=) NC_000001.11:228294927:G:C Identity +NM_001317184.2:c.387G>A NP_001304113.1:p.Gln129= NC_000016.10:68801892:G:A p.(Gln129=) NC_000016.10:68801892:G:A p.(Gln129=) NC_000016.10:68801892:G:A Identity +NM_001177984.3:c.4602G>T NP_001171455.1:p.Ala1534= NC_000012.12:51794570:G:T p.(Ala1534=) NC_000012.12:51794570:G:T p.(Ala1534=) NC_000012.12:51794570:G:T Identity +NM_001368719.1:c.120G>A NP_001355648.1:p.Gln40= NC_000015.10:32730809:G:A p.(Gln40=) NC_000015.10:32730809:G:A p.(Gln40=) NC_000015.10:32730809:G:A Identity +NM_001256850.1:c.84966T>C NP_001243779.1:p.Ser28322= NC_000002.12:178553010:A:G p.(Ser28322=) NC_000002.12:178553010:A:G p.(Ser28322=) NC_000002.12:178553010:A:G Identity +NM_000075.4:c.786T>G NP_000066.1:p.Pro262= NC_000012.12:57749214:A:C p.(Pro262=) NC_000012.12:57749214:A:C p.(Pro262=) NC_000012.12:57749214:A:C Identity +NM_000545.8:c.843G>C NP_000536.6:p.Leu281= NC_000012.12:120994292:G:C p.(Leu281=) NC_000012.12:120994292:G:C p.(Leu281=) NC_000012.12:120994292:G:C Identity +NM_000400.4:c.1698G>A NP_000391.1:p.Leu566= NC_000019.10:45353301:C:T p.(Leu566=) NC_000019.10:45353301:C:T p.(Leu566=) NC_000019.10:45353301:C:T Identity +NM_001371656.1:c.2010A>G NP_001358585.1:p.Lys670= NC_000006.12:156871636:A:G p.(Lys670=) NC_000006.12:156871636:A:G p.(Lys670=) NC_000006.12:156871636:A:G Identity +NM_000400.4:c.1812G>T NP_000391.1:p.Val604= NC_000019.10:45353101:C:A p.(Val604=) NC_000019.10:45353101:C:A p.(Val604=) NC_000019.10:45353101:C:A Identity +NM_001406676.1:c.2487C>T NP_001393605.1:p.Pro829= NC_000016.10:2075886:C:T p.(Pro829=) NC_000016.10:2075886:C:T p.(Pro829=) NC_000016.10:2075886:C:T Identity +NM_001270521.2:c.3015G>A NP_001257450.1:p.Leu1005= NC_000006.12:131594315:C:T p.(Leu1005=) NC_000006.12:131594315:C:T p.(Leu1005=) NC_000006.12:131594315:C:T Identity +NM_000162.5:c.57C>A NP_000153.1:p.Ile19= NC_000007.14:44153451:G:T p.(Ile19=) NC_000007.14:44153451:G:T p.(Ile19=) NC_000007.14:44153451:G:T Identity +NM_001304717.5:c.291C>T NP_001291646.4:p.Ala97= NC_000010.11:87864240:C:T p.(Ala97=) NC_000010.11:87864240:C:T p.(Ala97=) NC_000010.11:87864240:C:T Identity +NM_001127222.2:c.6885A>C NP_001120694.1:p.Pro2295= NC_000019.10:13207948:T:G p.(Pro2295=) NC_000019.10:13207948:T:G p.(Pro2295=) NC_000019.10:13207948:T:G Identity +NM_001077186.2:c.1887C>T NP_001070654.1:p.Asn629= NC_000019.10:50252694:C:T p.(Asn629=) NC_000019.10:50252694:C:T p.(Asn629=) NC_000019.10:50252694:C:T Identity +NM_005762.3:c.1581C>T NP_005753.1:p.Ala527= NC_000019.10:58549158:C:T p.(Ala527=) NC_000019.10:58549158:C:T p.(Ala527=) NC_000019.10:58549158:C:T Identity +NM_001037631.3:c.171G>T NP_001032720.1:p.Val57= NC_000002.12:203870646:G:T p.(Val57=) NC_000002.12:203870646:G:T p.(Val57=) NC_000002.12:203870646:G:T Identity +NM_001136193.2:c.1587G>C NP_001129665.1:p.Leu529= NC_000002.12:206786891:G:C p.(Leu529=) NC_000002.12:206786891:G:C p.(Leu529=) NC_000002.12:206786891:G:C Identity +NM_001080453.3:c.4359C>G NP_001073922.2:p.Ser1453= NC_000007.14:1478855:G:C p.(Ser1453=) NC_000007.14:1478855:G:C p.(Ser1453=) NC_000007.14:1478855:G:C Identity +NM_001252020.2:c.2925C>A NP_001238949.1:p.Ile975= NC_000015.10:31032766:G:T p.(Ile975=) NC_000015.10:31032766:G:T p.(Ile975=) NC_000015.10:31032766:G:T Identity +NM_001363656.2:c.159C>T NP_001350585.1:p.Ala53= NC_000019.10:52212998:C:T p.(Ala53=) NC_000019.10:52212998:C:T p.(Ala53=) NC_000019.10:52212998:C:T Identity +NM_001160130.2:c.1611A>C NP_001153602.1:p.Val537= NC_000006.12:73190632:A:C p.(Val537=) NC_000006.12:73190632:A:C p.(Val537=) NC_000006.12:73190632:A:C Identity +NM_015335.5:c.2868G>A NP_056150.1:p.Leu956= NC_000012.12:115996603:C:T p.(Leu956=) NC_000012.12:115996603:C:T p.(Leu956=) NC_000012.12:115996603:C:T Identity +NM_006204.4:c.108C>A NP_006195.3:p.Ile36= NC_000010.11:93612832:C:A p.(Ile36=) NC_000010.11:93612832:C:A p.(Ile36=) NC_000010.11:93612832:C:A Identity +NM_001130438.3:c.2656C>T NP_001123910.1:p.Leu886= NC_000009.12:128585842:C:T p.(Leu886=) NC_000009.12:128585842:C:T p.(Leu886=) NC_000009.12:128585842:C:T Identity +NM_021072.4:c.858C>T NP_066550.2:p.His286= NC_000005.10:45461998:G:A p.(His286=) NC_000005.10:45461998:G:A p.(His286=) NC_000005.10:45461998:G:A Identity +NM_001244580.2:c.1167C>T NP_001231509.1:p.His389= NC_000007.14:98908778:C:T p.(His389=) NC_000007.14:98908778:C:T p.(His389=) NC_000007.14:98908778:C:T Identity +NM_003334.4:c.2823C>T NP_003325.2:p.Ala941= NC_000023.11:47213165:C:T p.(Ala941=) NC_000023.11:47213165:C:T p.(Ala941=) NC_000023.11:47213165:C:T Identity +NM_001163812.2:c.951C>T NP_001157284.1:p.Ala317= NC_000010.11:100989160:C:T p.(Ala317=) NC_000010.11:100989160:C:T p.(Ala317=) NC_000010.11:100989160:C:T Identity +NM_021076.4:c.2061A>G NP_066554.2:p.Glu687= NC_000022.11:29489700:A:G p.(Glu687=) NC_000022.11:29489700:A:G p.(Glu687=) NC_000022.11:29489700:A:G Identity +NM_001316327.2:c.939T>C NP_001303256.1:p.Tyr313= NC_000003.12:53185653:T:C p.(Tyr313=) NC_000003.12:53185653:T:C p.(Tyr313=) NC_000003.12:53185653:T:C Identity +NM_014516.4:c.657C>T NP_055331.1:p.Phe219= NC_000019.10:54145770:C:T p.(Phe219=) NC_000019.10:54145770:C:T p.(Phe219=) NC_000019.10:54145770:C:T Identity +NM_003482.4:c.7479G>A NP_003473.3:p.Gly2493= NC_000012.12:49040290:C:T p.(Gly2493=) NC_000012.12:49040290:C:T p.(Gly2493=) NC_000012.12:49040290:C:T Identity +NM_001046.3:c.459A>G NP_001037.1:p.Glu153= NC_000005.10:128084412:A:G p.(Glu153=) NC_000005.10:128084412:A:G p.(Glu153=) NC_000005.10:128084412:A:G Identity +NM_031310.3:c.912C>T NP_112600.1:p.Leu304= NC_000019.10:17365552:G:A p.(Leu304=) NC_000019.10:17365552:G:A p.(Leu304=) NC_000019.10:17365552:G:A Identity +NM_139318.5:c.30A>G NP_647479.2:p.Ala10= NC_000014.9:63045156:T:C p.(Ala10=) NC_000014.9:63045156:T:C p.(Ala10=) NC_000014.9:63045156:T:C Identity +NM_001177984.3:c.5700A>C NP_001171455.1:p.Thr1900= NC_000012.12:51807308:A:C p.(Thr1900=) NC_000012.12:51807308:A:C p.(Thr1900=) NC_000012.12:51807308:A:C Identity +NM_001130438.3:c.6019_6020del NP_001123910.1:p.Thr2006_Asp2007insTer NC_000009.12:128625127:AGA:A p.(Asp2007Ter) NC_000009.12:128625127:AGA:A p.(Asp2007Ter) NC_000009.12:128625128:GA: Analogous +NM_001040436.3:c.54A>C NP_001035526.1:p.Leu18= NC_000012.12:32755820:T:G p.(Leu18=) NC_000012.12:32755820:T:G p.(Leu18=) NC_000012.12:32755820:T:G Identity +NM_020988.3:c.720C>T NP_066268.1:p.Thr240= NC_000016.10:56336856:C:T p.(Thr240=) NC_000016.10:56336856:C:T p.(Thr240=) NC_000016.10:56336856:C:T Identity +NM_001130438.3:c.1929C>T NP_001123910.1:p.His643= NC_000009.12:128583198:C:T p.(His643=) NC_000009.12:128583198:C:T p.(His643=) NC_000009.12:128583198:C:T Identity +NM_152594.3:c.1110C>T NP_689807.1:p.Leu370= NC_000015.10:38351438:C:T p.(Leu370=) NC_000015.10:38351438:C:T p.(Leu370=) NC_000015.10:38351438:C:T Identity +NM_004459.7:c.4647G>A NP_004450.3:p.Leu1549= NC_000017.11:67912152:G:A p.(Leu1549=) NC_000017.11:67912152:G:A p.(Leu1549=) NC_000017.11:67912152:G:A Identity +NM_001304763.2:c.2901G>C NP_001291692.1:p.Leu967= NC_000001.11:151289943:G:C p.(Leu967=) NC_000001.11:151289943:G:C p.(Leu967=) NC_000001.11:151289943:G:C Identity +NM_001244008.2:c.4329C>A NP_001230937.1:p.Arg1443= NC_000002.12:240723547:G:T p.(Arg1443=) NC_000002.12:240723547:G:T p.(Arg1443=) NC_000002.12:240723547:G:T Identity +NM_001165963.4:c.2607G>A NP_001159435.1:p.Leu869= NC_000002.12:166038114:C:T p.(Leu869=) NC_000002.12:166038114:C:T p.(Leu869=) NC_000002.12:166038114:C:T Identity +NM_001264.5:c.669C>T NP_001255.4:p.Pro223= NC_000006.12:31116945:G:A p.(Pro223=) NC_000006.12:31116945:G:A p.(Pro223=) NC_000006.12:31116945:G:A Identity +NM_001330384.2:c.819C>T NP_001317313.1:p.Pro273= NC_000019.10:15265383:G:A p.(Pro273=) NC_000019.10:15265383:G:A p.(Pro273=) NC_000019.10:15265383:G:A Identity +NM_001271999.2:c.171A>C NP_001258928.1:p.Pro57= NC_000001.11:62654132:T:G p.(Pro57=) NC_000001.11:62654132:T:G p.(Pro57=) NC_000001.11:62654132:T:G Identity +NM_001018088.3:c.3777C>G NP_001018098.1:p.Thr1259= NC_000015.10:61961719:G:C p.(Thr1259=) NC_000015.10:61961719:G:C p.(Thr1259=) NC_000015.10:61961719:G:C Identity +NM_020338.4:c.483C>T NP_065071.1:p.Pro161= NC_000010.11:79289831:C:T p.(Pro161=) NC_000010.11:79289831:C:T p.(Pro161=) NC_000010.11:79289831:C:T Identity +NM_032656.4:c.1953C>T NP_116045.2:p.Gly651= NC_000012.12:124964485:G:A p.(Gly651=) NC_000012.12:124964485:G:A p.(Gly651=) NC_000012.12:124964485:G:A Identity +NM_130466.4:c.2949G>A NP_569733.2:p.Pro983= NC_000012.12:109533491:G:A p.(Pro983=) NC_000012.12:109533491:G:A p.(Pro983=) NC_000012.12:109533491:G:A Identity +NM_001348181.2:c.360T>C NP_001335110.1:p.Ala120= NC_000002.12:24310642:A:G p.(Ala120=) NC_000002.12:24310642:A:G p.(Ala120=) NC_000002.12:24310642:A:G Identity +NM_001270449.2:c.522G>A NP_001257378.1:p.Thr174= NC_000012.12:109488645:G:A p.(Thr174=) NC_000012.12:109488645:G:A p.(Thr174=) NC_000012.12:109488645:G:A Identity +NM_001318511.2:c.48G>A NP_001305440.1:p.Thr16= NC_000018.10:79679994:G:A p.(Thr16=) NC_000018.10:79679994:G:A p.(Thr16=) NC_000018.10:79679994:G:A Identity +NM_001244580.2:c.531A>G NP_001231509.1:p.Gln177= NC_000007.14:98897763:A:G p.(Gln177=) NC_000007.14:98897763:A:G p.(Gln177=) NC_000007.14:98897763:A:G Identity +NM_144773.4:c.819G>T NP_658986.1:p.Thr273= NC_000020.11:5302375:C:A p.(Thr273=) NC_000020.11:5302375:C:A p.(Thr273=) NC_000020.11:5302375:C:A Identity +NM_001042646.3:c.702G>A NP_001036111.1:p.Leu234= NC_000003.12:42191568:G:A p.(Leu234=) NC_000003.12:42191568:G:A p.(Leu234=) NC_000003.12:42191568:G:A Identity +NM_139025.5:c.1899C>T NP_620594.1:p.Thr633= NC_000009.12:133440455:C:T p.(Thr633=) NC_000009.12:133440455:C:T p.(Thr633=) NC_000009.12:133440455:C:T Identity +NM_001349608.2:c.2334C>T NP_001336537.1:p.Asp778= NC_000001.11:7664970:C:T p.(Asp778=) NC_000001.11:7664970:C:T p.(Asp778=) NC_000001.11:7664970:C:T Identity +NM_001244580.2:c.10002A>G NP_001231509.1:p.Glu3334= NC_000007.14:98993733:A:G p.(Glu3334=) NC_000007.14:98993733:A:G p.(Glu3334=) NC_000007.14:98993733:A:G Identity +NM_001958.5:c.444C>T NP_001949.1:p.Leu148= NC_000020.11:63494981:G:A p.(Leu148=) NC_000020.11:63494981:G:A p.(Leu148=) NC_000020.11:63494981:G:A Identity +NM_020338.4:c.1665A>G NP_065071.1:p.Pro555= NC_000010.11:79298578:A:G p.(Pro555=) NC_000010.11:79298578:A:G p.(Pro555=) NC_000010.11:79298578:A:G Identity +NM_015335.5:c.3327C>T NP_056150.1:p.Leu1109= NC_000012.12:115991626:G:A p.(Leu1109=) NC_000012.12:115991626:G:A p.(Leu1109=) NC_000012.12:115991626:G:A Identity +NM_006612.6:c.3129G>C NP_006603.2:p.Ala1043= NC_000017.11:5023967:G:C p.(Ala1043=) NC_000017.11:5023967:G:C p.(Ala1043=) NC_000017.11:5023967:G:C Identity +NM_001190415.2:c.444G>A NP_001177344.1:p.Glu148= NC_000007.14:100113679:C:T p.(Glu148=) NC_000007.14:100113679:C:T p.(Glu148=) NC_000007.14:100113679:C:T Identity +NM_001354798.2:c.366C>T NP_001341727.1:p.Thr122= NC_000003.12:39391529:C:T p.(Thr122=) NC_000003.12:39391529:C:T p.(Thr122=) NC_000003.12:39391529:C:T Identity +NM_001244580.2:c.10047C>T NP_001231509.1:p.Ser3349= NC_000007.14:98994627:C:T p.(Ser3349=) NC_000007.14:98994627:C:T p.(Ser3349=) NC_000007.14:98994627:C:T Identity +NM_000177.5:c.1848G>A NP_000168.1:p.Thr616= NC_000009.12:121327414:G:A p.(Thr616=) NC_000009.12:121327414:G:A p.(Thr616=) NC_000009.12:121327414:G:A Identity +NM_015335.5:c.4119G>A NP_056150.1:p.Ser1373= NC_000012.12:115986484:C:T p.(Ser1373=) NC_000012.12:115986484:C:T p.(Ser1373=) NC_000012.12:115986484:C:T Identity +NM_001382235.1:c.1869C>G NP_001369164.1:p.Thr623= NC_000020.11:63408484:G:C p.(Thr623=) NC_000020.11:63408484:G:C p.(Thr623=) NC_000020.11:63408484:G:C Identity +NM_020988.3:c.759C>T NP_066268.1:p.Ser253= NC_000016.10:56351418:C:T p.(Ser253=) NC_000016.10:56351418:C:T p.(Ser253=) NC_000016.10:56351418:C:T Identity +NM_001130438.3:c.282C>T NP_001123910.1:p.Ala94= NC_000009.12:128568815:C:T p.(Ala94=) NC_000009.12:128568815:C:T p.(Ala94=) NC_000009.12:128568815:C:T Identity +NM_139318.5:c.825A>G NP_647479.2:p.Gly275= NC_000014.9:62980988:T:C p.(Gly275=) NC_000014.9:62980988:T:C p.(Gly275=) NC_000014.9:62980988:T:C Identity +NM_001127231.3:c.1671G>A NP_001120703.1:p.Pro557= NC_000007.14:70766315:G:A p.(Pro557=) NC_000007.14:70766315:G:A p.(Pro557=) NC_000007.14:70766315:G:A Identity +NM_001130823.3:c.735G>A NP_001124295.1:p.Thr245= NC_000019.10:10173122:C:T p.(Thr245=) NC_000019.10:10173122:C:T p.(Thr245=) NC_000019.10:10173122:C:T Identity +NM_139318.5:c.678C>T NP_647479.2:p.Phe226= NC_000014.9:62981135:G:A p.(Phe226=) NC_000014.9:62981135:G:A p.(Phe226=) NC_000014.9:62981135:G:A Identity +NM_025014.2:c.454_456dup NP_079290.1:p.Arg152_Leu153insArg NC_000017.11:8312490:GGAGG:GGAGGAGG p.(Arg152dup) NC_000017.11:8312490:GGAGG:GGAGGAGG p.(Arg152dup) ERR:SPDI Analogous +NM_020338.4:c.2037G>A NP_065071.1:p.Leu679= NC_000010.11:79302123:G:A p.(Leu679=) NC_000010.11:79302123:G:A p.(Leu679=) NC_000010.11:79302123:G:A Identity +NM_005560.6:c.1494G>A NP_005551.3:p.Ala498= NC_000020.11:62338591:C:T p.(Ala498=) NC_000020.11:62338591:C:T p.(Ala498=) NC_000020.11:62338591:C:T Identity +NM_001032221.6:c.243G>A NP_001027392.1:p.Glu81= NC_000009.12:127658447:G:A p.(Glu81=) NC_000009.12:127658447:G:A p.(Glu81=) NC_000009.12:127658447:G:A Identity +NM_001406506.1:c.1713G>A NP_001393435.1:p.Leu571= NC_000018.10:31070833:C:T p.(Leu571=) NC_000018.10:31070833:C:T p.(Leu571=) NC_000018.10:31070833:C:T Identity +NM_006612.6:c.2781C>T NP_006603.2:p.Leu927= NC_000017.11:5023619:C:T p.(Leu927=) NC_000017.11:5023619:C:T p.(Leu927=) NC_000017.11:5023619:C:T Identity +NM_001323517.1:c.558C>T NP_001310446.1:p.Ile186= NC_000010.11:93593832:G:A p.(Ile186=) NC_000010.11:93593832:G:A p.(Ile186=) NC_000010.11:93593832:G:A Identity +NM_001165963.4:c.3150A>G NP_001159435.1:p.Pro1050= NC_000002.12:166036326:T:C p.(Pro1050=) NC_000002.12:166036326:T:C p.(Pro1050=) NC_000002.12:166036326:T:C Identity +NM_001184985.2:c.690C>T NP_001171914.1:p.Gly230= NC_000012.12:754254:C:T p.(Gly230=) NC_000012.12:754254:C:T p.(Gly230=) NC_000012.12:754254:C:T Identity +NM_002238.4:c.700T>C NP_002229.1:p.Leu234= NC_000001.11:211019114:A:G p.(Leu234=) NC_000001.11:211019114:A:G p.(Leu234=) NC_000001.11:211019114:A:G Identity +NM_001244580.2:c.11520C>T NP_001231509.1:p.Ala3840= NC_000007.14:99012294:C:T p.(Ala3840=) NC_000007.14:99012294:C:T p.(Ala3840=) NC_000007.14:99012294:C:T Identity +NM_021072.4:c.1725A>G NP_066550.2:p.Glu575= NC_000005.10:45267146:T:C p.(Glu575=) NC_000005.10:45267146:T:C p.(Glu575=) NC_000005.10:45267146:T:C Identity +NM_001177984.3:c.3705T>G NP_001171455.1:p.Ala1235= NC_000012.12:51774247:T:G p.(Ala1235=) NC_000012.12:51774247:T:G p.(Ala1235=) NC_000012.12:51774247:T:G Identity +NM_001382235.1:c.339C>T NP_001369164.1:p.Ser113= NC_000020.11:63446794:G:A p.(Ser113=) NC_000020.11:63446794:G:A p.(Ser113=) NC_000020.11:63446794:G:A Identity +NM_001029882.3:c.4050C>T NP_001025053.1:p.Asn1350= NC_000001.11:27548065:G:A p.(Asn1350=) NC_000001.11:27548065:G:A p.(Asn1350=) NC_000001.11:27548065:G:A Identity +NM_005559.4:c.8991A>G NP_005550.2:p.Ala2997= NC_000018.10:6943255:T:C p.(Ala2997=) NC_000018.10:6943255:T:C p.(Ala2997=) NC_000018.10:6943255:T:C Identity +NM_001166133.2:c.3900C>T NP_001159605.1:p.Ser1300= NC_000004.12:78387625:C:T p.(Ser1300=) NC_000004.12:78387625:C:T p.(Ser1300=) NC_000004.12:78387625:C:T Identity +NM_001282933.2:c.1395C>T NP_001269862.1:p.Thr465= NC_000020.11:33767022:C:T p.(Thr465=) NC_000020.11:33767022:C:T p.(Thr465=) NC_000020.11:33767022:C:T Identity +NM_003632.3:c.1947C>T NP_003623.1:p.Ile649= NC_000017.11:42690829:C:T p.(Ile649=) NC_000017.11:42690829:C:T p.(Ile649=) NC_000017.11:42690829:C:T Identity +NM_001039141.3:c.1932A>G NP_001034230.1:p.Gln644= NC_000022.11:37724487:A:G p.(Gln644=) NC_000022.11:37724487:A:G p.(Gln644=) NC_000022.11:37724487:A:G Identity +NM_001165963.4:c.1632A>G NP_001159435.1:p.Thr544= NC_000002.12:166045072:T:C p.(Thr544=) NC_000002.12:166045072:T:C p.(Thr544=) NC_000002.12:166045072:T:C Identity +NM_001105.5:c.198C>T NP_001096.1:p.Tyr66= NC_000002.12:157780469:G:A p.(Tyr66=) NC_000002.12:157780469:G:A p.(Tyr66=) NC_000002.12:157780469:G:A Identity +NM_015335.5:c.987C>G NP_056150.1:p.Thr329= NC_000012.12:116019245:G:C p.(Thr329=) NC_000012.12:116019245:G:C p.(Thr329=) NC_000012.12:116019245:G:C Identity +NM_007055.4:c.1023C>T NP_008986.2:p.Phe341= NC_000010.11:78021884:G:A p.(Phe341=) NC_000010.11:78021884:G:A p.(Phe341=) NC_000010.11:78021884:G:A Identity +NM_001113378.2:c.2520C>T NP_001106849.1:p.Arg840= NC_000015.10:89294977:C:T p.(Arg840=) NC_000015.10:89294977:C:T p.(Arg840=) NC_000015.10:89294977:C:T Identity +NM_001130438.3:c.6066A>G NP_001123910.1:p.Lys2022= NC_000009.12:128625175:A:G p.(Lys2022=) NC_000009.12:128625175:A:G p.(Lys2022=) NC_000009.12:128625175:A:G Identity +NM_000718.4:c.3438C>T NP_000709.1:p.Ile1146= NC_000009.12:138046927:C:T p.(Ile1146=) NC_000009.12:138046927:C:T p.(Ile1146=) NC_000009.12:138046927:C:T Identity +NM_001410908.1:c.4426T>C NP_001397837.1:p.Leu1476= NC_000007.14:105112307:T:C p.(Leu1476=) NC_000007.14:105112307:T:C p.(Leu1476=) NC_000007.14:105112307:T:C Identity +NM_000298.6:c.108G>A NP_000289.1:p.Ala36= NC_000001.11:155300272:C:T p.(Ala36=) NC_000001.11:155300272:C:T p.(Ala36=) NC_000001.11:155300272:C:T Identity +NM_001101802.3:c.849C>T NP_001095272.1:p.Pro283= NC_000011.10:45965458:G:A p.(Pro283=) NC_000011.10:45965458:G:A p.(Pro283=) NC_000011.10:45965458:G:A Identity +NM_003108.4:c.915C>T NP_003099.1:p.Ala305= NC_000002.12:5693635:C:T p.(Ala305=) NC_000002.12:5693635:C:T p.(Ala305=) NC_000002.12:5693635:C:T Identity +NM_001345962.2:c.270C>T NP_001332891.1:p.Ser90= NC_000004.12:83467537:G:A p.(Ser90=) NC_000004.12:83467537:G:A p.(Ser90=) NC_000004.12:83467537:G:A Identity +NM_001305424.2:c.3387C>T NP_001292353.1:p.Pro1129= NC_000001.11:240208186:C:T p.(Pro1129=) NC_000001.11:240208186:C:T p.(Pro1129=) NC_000001.11:240208186:C:T Identity +NM_003754.3:c.21A>G NP_003745.1:p.Pro7= NC_000011.10:7987372:A:G p.(Pro7=) NC_000011.10:7987372:A:G p.(Pro7=) NC_000011.10:7987372:A:G Identity +NM_000321.3:c.1470T>A NP_000312.2:p.Ala490= NC_000013.11:48380212:T:A p.(Ala490=) NC_000013.11:48380212:T:A p.(Ala490=) NC_000013.11:48380212:T:A Identity +NM_001174116.3:c.3900C>A NP_001167587.1:p.Thr1300= NC_000015.10:51499323:G:T p.(Thr1300=) NC_000015.10:51499323:G:T p.(Thr1300=) NC_000015.10:51499323:G:T Identity +NM_001286429.2:c.1750_1755del NP_001273358.1:p.Met584_Thr585del NC_000015.10:71771123:ATGACT: p.(Met584_Thr585del) NC_000015.10:71771123:ATGACT: p.(Met584_Thr585del) NC_000015.10:71771123:ATGACT: Identity +NM_005632.3:c.420G>A NP_005623.1:p.Ala140= NC_000016.10:547257:G:A p.(Ala140=) NC_000016.10:547257:G:A p.(Ala140=) NC_000016.10:547257:G:A Identity +NM_000196.4:c.99G>A NP_000187.3:p.Pro33= NC_000016.10:67431346:G:A p.(Pro33=) NC_000016.10:67431346:G:A p.(Pro33=) NC_000016.10:67431346:G:A Identity +NM_004539.4:c.813A>C NP_004530.1:p.Pro271= NC_000018.10:57607321:T:G p.(Pro271=) NC_000018.10:57607321:T:G p.(Pro271=) NC_000018.10:57607321:T:G Identity +NM_000540.3:c.11646C>T NP_000531.2:p.Asp3882= NC_000019.10:38537916:C:T p.(Asp3882=) NC_000019.10:38537916:C:T p.(Asp3882=) NC_000019.10:38537916:C:T Identity +NM_033071.5:c.843T>C NP_149062.2:p.Tyr281= NC_000006.12:152502698:A:G p.(Tyr281=) NC_000006.12:152502698:A:G p.(Tyr281=) NC_000006.12:152502698:A:G Identity +NM_005502.4:c.6768G>A NP_005493.2:p.Val2256= NC_000009.12:104784332:C:T p.(Val2256=) NC_000009.12:104784332:C:T p.(Val2256=) NC_000009.12:104784332:C:T Identity +NM_001105243.2:c.3042G>C NP_001098713.1:p.Ala1014= NC_000023.11:100296540:C:G p.(Ala1014=) NC_000023.11:100296540:C:G p.(Ala1014=) NC_000023.11:100296540:C:G Identity +NM_001098533.3:c.432G>A NP_001092003.2:p.Thr144= NC_000016.10:89694208:G:A p.(Thr144=) NC_000016.10:89694208:G:A p.(Thr144=) NC_000016.10:89694208:G:A Identity +NM_033198.4:c.1515G>A NP_149975.1:p.Pro505= NC_000017.11:28554372:C:T p.(Pro505=) NC_000017.11:28554372:C:T p.(Pro505=) NC_000017.11:28554372:C:T Identity +NM_001394998.1:c.3753C>T NP_001381927.1:p.Gly1251= NC_000017.11:63411673:C:T p.(Gly1251=) NC_000017.11:63411673:C:T p.(Gly1251=) NC_000017.11:63411673:C:T Identity +NM_001407255.1:c.1170C>T NP_001394184.1:p.Gly390= NC_000019.10:1223698:C:T p.(Gly390=) NC_000019.10:1223698:C:T p.(Gly390=) NC_000019.10:1223698:C:T Identity +NM_001164317.2:c.1128C>T NP_001157789.1:p.Tyr376= NC_000003.12:58097957:C:T p.(Tyr376=) NC_000003.12:58097957:C:T p.(Tyr376=) NC_000003.12:58097957:C:T Identity +NM_015384.5:c.7593T>C NP_056199.2:p.Ala2531= NC_000005.10:37059072:T:C p.(Ala2531=) NC_000005.10:37059072:T:C p.(Ala2531=) NC_000005.10:37059072:T:C Identity +NM_001141973.3:c.2082C>T NP_001135445.1:p.Pro694= NC_000001.11:16992037:G:A p.(Pro694=) NC_000001.11:16992037:G:A p.(Pro694=) NC_000001.11:16992037:G:A Identity +NM_001407361.1:c.249T>G NP_001394290.1:p.Val83= NC_000001.11:17033096:A:C p.(Val83=) NC_000001.11:17033096:A:C p.(Val83=) NC_000001.11:17033096:A:C Identity +NM_000069.3:c.18C>T NP_000060.2:p.Pro6= NC_000001.11:201112321:G:A p.(Pro6=) NC_000001.11:201112321:G:A p.(Pro6=) NC_000001.11:201112321:G:A Identity +NM_022772.4:c.1533A>G NP_073609.2:p.Leu511= NC_000011.10:724801:A:G p.(Leu511=) NC_000011.10:724801:A:G p.(Leu511=) NC_000011.10:724801:A:G Identity +NM_000218.3:c.195G>C NP_000209.2:p.Ala65= NC_000011.10:2445292:G:C p.(Ala65=) NC_000011.10:2445292:G:C p.(Ala65=) NC_000011.10:2445292:G:C Identity +NM_001190995.2:c.942C>T NP_001177924.1:p.Ala314= NC_000012.12:30663525:G:A p.(Ala314=) NC_000012.12:30663525:G:A p.(Ala314=) NC_000012.12:30663525:G:A Identity +NM_001317172.2:c.213C>T NP_001304101.2:p.Pro71= NC_000014.9:100729016:C:T p.(Pro71=) NC_000014.9:100729016:C:T p.(Pro71=) NC_000014.9:100729016:C:T Identity +NM_001256442.2:c.1074A>T NP_001243371.1:p.Leu358= NC_000016.10:29814526:A:T p.(Leu358=) NC_000016.10:29814526:A:T p.(Leu358=) NC_000016.10:29814526:A:T Identity +NM_001127222.2:c.6894C>T NP_001120694.1:p.Ser2298= NC_000019.10:13207939:G:A p.(Ser2298=) NC_000019.10:13207939:G:A p.(Ser2298=) NC_000019.10:13207939:G:A Identity +NM_000660.7:c.501C>T NP_000651.3:p.His167= NC_000019.10:41348309:G:A p.(His167=) NC_000019.10:41348309:G:A p.(His167=) NC_000019.10:41348309:G:A Identity +NM_001378120.1:c.5151C>T NP_001365049.1:p.Pro1717= NC_000002.12:148512907:C:T p.(Pro1717=) NC_000002.12:148512907:C:T p.(Pro1717=) NC_000002.12:148512907:C:T Identity +NM_022915.5:c.993C>T NP_075066.1:p.Ala331= NC_000002.12:223967027:C:T p.(Ala331=) NC_000002.12:223967027:C:T p.(Ala331=) NC_000002.12:223967027:C:T Identity +NM_033071.5:c.5731T>C NP_149062.2:p.Leu1911= NC_000006.12:152416726:A:G p.(Leu1911=) NC_000006.12:152416726:A:G p.(Leu1911=) NC_000006.12:152416726:A:G Identity +NM_001193270.2:c.1089G>A NP_001180199.1:p.Gln363= NC_000023.11:11765682:G:A p.(Gln363=) NC_000023.11:11765682:G:A p.(Gln363=) NC_000023.11:11765682:G:A Identity +NM_001270974.2:c.11811G>A NP_001257903.1:p.Pro3937= NC_000016.10:70860867:C:T p.(Pro3937=) NC_000016.10:70860867:C:T p.(Pro3937=) NC_000016.10:70860867:C:T Identity +NM_001411067.1:c.2607A>G NP_001397996.1:p.Gln869= NC_000017.11:8231337:T:C p.(Gln869=) NC_000017.11:8231337:T:C p.(Gln869=) NC_000017.11:8231337:T:C Identity +NM_001242648.4:c.750C>T NP_001229577.1:p.Pro250= NC_000006.12:13205899:C:T p.(Pro250=) NC_000006.12:13205899:C:T p.(Pro250=) NC_000006.12:13205899:C:T Identity +NM_001281932.2:c.1686C>T NP_001268861.1:p.Thr562= NC_000007.14:158664543:G:A p.(Thr562=) NC_000007.14:158664543:G:A p.(Thr562=) NC_000007.14:158664543:G:A Identity +NM_001256850.1:c.36324A>G NP_001243779.1:p.Gln12108= NC_000002.12:178636479:T:C p.(Gln12108=) NC_000002.12:178636479:T:C p.(Gln12108=) NC_000002.12:178636479:T:C Identity +NM_001254734.2:c.1134C>T NP_001241663.1:p.Arg378= NC_000020.11:2403620:C:T p.(Arg378=) NC_000020.11:2403620:C:T p.(Arg378=) NC_000020.11:2403620:C:T Identity +NM_015658.4:c.2097T>C NP_056473.3:p.Asp699= NC_000001.11:945102:A:G p.(Asp699=) NC_000001.11:945102:A:G p.(Asp699=) NC_000001.11:945102:A:G Identity +NM_001170535.3:c.492G>A NP_001164006.1:p.Gln164= NC_000001.11:1518967:G:A p.(Gln164=) NC_000001.11:1518967:G:A p.(Gln164=) NC_000001.11:1518967:G:A Identity +NM_001170535.3:c.1053C>T NP_001164006.1:p.Tyr351= NC_000001.11:1523927:C:T p.(Tyr351=) NC_000001.11:1523927:C:T p.(Tyr351=) NC_000001.11:1523927:C:T Identity +NM_001291345.2:c.1128C>T NP_001278274.1:p.Ser376= NC_000001.11:1640369:G:A p.(Ser376=) NC_000001.11:1640369:G:A p.(Ser376=) NC_000001.11:1640369:G:A Identity +NM_001198993.2:c.297G>A NP_001185922.1:p.Thr99= NC_000001.11:1757276:C:T p.(Thr99=) NC_000001.11:1757276:C:T p.(Thr99=) NC_000001.11:1757276:C:T Identity +NM_015557.3:c.2805C>T NP_056372.1:p.Asp935= NC_000001.11:6135294:G:A p.(Asp935=) NC_000001.11:6135294:G:A p.(Asp935=) NC_000001.11:6135294:G:A Identity +NM_015557.3:c.2043C>T NP_056372.1:p.Asp681= NC_000001.11:6143822:G:A p.(Asp681=) NC_000001.11:6143822:G:A p.(Asp681=) NC_000001.11:6143822:G:A Identity +NM_001009566.3:c.681C>T NP_001009566.1:p.Tyr227= NC_000001.11:9749881:G:A p.(Tyr227=) NC_000001.11:9749881:G:A p.(Tyr227=) NC_000001.11:9749881:G:A Identity +NM_001079843.3:c.1958_1972dup NP_001073312.1:p.Glu657_Gly658insGluCysLysTyrGlu NC_000001.11:10654084:CCTCGTACTTGCACTCCTCGTACTTG:CCTCGTACTTGCACTCCTCGTACTTGCACTCCTCGTACTTG p.(Glu653_Glu657dup) NC_000001.11:10654084:CCTCGTACTTGCACTCCTCGTACTTG:CCTCGTACTTGCACTCCTCGTACTTGCACTCCTCGTACTTG p.(Glu653_Glu657dup) ERR:SPDI Analogous +NM_001386500.1:c.2658T>C NP_001373429.1:p.Arg886= NC_000001.11:11231045:A:G p.(Arg886=) NC_000001.11:11231045:A:G p.(Arg886=) NC_000001.11:11231045:A:G Identity +NM_015378.4:c.2838C>T NP_056193.2:p.Arg946= NC_000001.11:12276425:C:T p.(Arg946=) NC_000001.11:12276425:C:T p.(Arg946=) NC_000001.11:12276425:C:T Identity +NM_015001.3:c.5898C>T NP_055816.2:p.Asn1966= NC_000001.11:15932137:C:T p.(Asn1966=) NC_000001.11:15932137:C:T p.(Asn1966=) NC_000001.11:15932137:C:T Identity +NM_015001.3:c.9144G>A NP_055816.2:p.Thr3048= NC_000001.11:15935383:G:A p.(Thr3048=) NC_000001.11:15935383:G:A p.(Thr3048=) NC_000001.11:15935383:G:A Identity +NM_182623.3:c.780G>A NP_872429.2:p.Pro260= NC_000001.11:16058499:C:T p.(Pro260=) NC_000001.11:16058499:C:T p.(Pro260=) NC_000001.11:16058499:C:T Identity +NM_012387.3:c.1224G>A NP_036519.2:p.Gly408= NC_000001.11:17354600:G:A p.(Gly408=) NC_000001.11:17354600:G:A p.(Gly408=) NC_000001.11:17354600:G:A Identity +NM_020765.3:c.10998G>A NP_065816.2:p.Ser3666= NC_000001.11:19115462:C:T p.(Ser3666=) NC_000001.11:19115462:C:T p.(Ser3666=) NC_000001.11:19115462:C:T Identity +NM_001145657.3:c.1881C>T NP_001139129.1:p.Pro627= NC_000001.11:21598475:G:A p.(Pro627=) NC_000001.11:21598475:G:A p.(Pro627=) NC_000001.11:21598475:G:A Identity +NM_152365.3:c.486C>T NP_689578.2:p.Pro162= NC_000001.11:26951894:G:A p.(Pro162=) NC_000001.11:26951894:G:A p.(Pro162=) NC_000001.11:26951894:G:A Identity +NM_001166005.2:c.33C>G NP_001159477.1:p.Ala11= NC_000001.11:28987469:C:G p.(Ala11=) NC_000001.11:28987469:C:G p.(Ala11=) NC_000001.11:28987469:C:G Identity +NM_001204414.2:c.624C>T NP_001191343.1:p.Ser208= NC_000001.11:31584895:C:T p.(Ser208=) NC_000001.11:31584895:C:T p.(Ser208=) NC_000001.11:31584895:C:T Identity +NM_001161708.2:c.540G>A NP_001155180.2:p.Gln180= NC_000001.11:32695557:C:T p.(Gln180=) NC_000001.11:32695557:C:T p.(Gln180=) NC_000001.11:32695557:C:T Identity +NM_001099439.2:c.1236G>A NP_001092909.1:p.Leu412= NC_000001.11:37752996:C:T p.(Leu412=) NC_000001.11:37752996:C:T p.(Leu412=) NC_000001.11:37752996:C:T Identity +NM_001253357.2:c.528G>T NP_001240286.1:p.Gly176= NC_000001.11:43307163:G:T p.(Gly176=) NC_000001.11:43307163:G:T p.(Gly176=) NC_000001.11:43307163:G:T Identity +NM_002840.5:c.1944G>A NP_002831.2:p.Ala648= NC_000001.11:43597877:G:A p.(Ala648=) NC_000001.11:43597877:G:A p.(Ala648=) NC_000001.11:43597877:G:A Identity +NM_000778.4:c.120C>T NP_000769.2:p.His40= NC_000001.11:46941313:G:A p.(His40=) NC_000001.11:46941313:G:A p.(His40=) NC_000001.11:46941313:G:A Identity +NM_001039464.4:c.3729T>A NP_001034553.3:p.Ala1243= NC_000001.11:54709074:T:A p.(Ala1243=) NC_000001.11:54709074:T:A p.(Ala1243=) NC_000001.11:54709074:T:A Identity +NM_181712.5:c.1449C>T NP_859063.3:p.Pro483= NC_000001.11:62273654:G:A p.(Pro483=) NC_000001.11:62273654:G:A p.(Pro483=) NC_000001.11:62273654:G:A Identity +NM_001293274.2:c.288A>G NP_001280203.1:p.Lys96= NC_000001.11:64647819:A:G p.(Lys96=) NC_000001.11:64647819:A:G p.(Lys96=) NC_000001.11:64647819:A:G Identity +NM_173808.3:c.597G>A NP_776169.2:p.Gly199= NC_000001.11:71698077:C:T p.(Gly199=) NC_000001.11:71698077:C:T p.(Gly199=) NC_000001.11:71698077:C:T Identity +NM_001375646.1:c.99T>C NP_001362575.1:p.His33= NC_000001.11:78628013:T:C p.(His33=) NC_000001.11:78628013:T:C p.(His33=) NC_000001.11:78628013:T:C Identity +NM_000701.8:c.2343C>T NP_000692.2:p.Thr781= NC_000001.11:116398978:C:T p.(Thr781=) NC_000001.11:116398978:C:T p.(Thr781=) NC_000001.11:116398978:C:T Identity +NM_001039703.6:c.4821C>G NP_001034792.4:p.Val1607= NC_000001.11:146107476:G:C p.(Val1607=) NC_000001.11:146107476:G:C p.(Val1607=) NC_000001.11:146107476:G:C Identity +NM_001039703.6:c.10794C>T NP_001034792.4:p.Phe3598= NC_000001.11:146066404:G:A p.(Phe3598=) NC_000001.11:146066404:G:A p.(Phe3598=) NC_000001.11:146066404:G:A Identity +NM_001303040.2:c.1239C>A NP_001289969.1:p.Pro413= NC_000001.11:145900948:G:T p.(Pro413=) NC_000001.11:145900948:G:T p.(Pro413=) NC_000001.11:145900948:G:T Identity +NM_001355409.3:c.165T>C NP_001342338.1:p.Tyr55= NC_000001.11:143905801:A:G p.(Tyr55=) NC_000001.11:143905801:A:G p.(Tyr55=) NC_000001.11:143905801:A:G Identity +NM_001122965.1:c.474T>C NP_001116437.1:p.His158= NC_000001.11:152156624:A:G p.(His158=) NC_000001.11:152156624:A:G p.(His158=) NC_000001.11:152156624:A:G Identity +NM_001009931.3:c.1116T>A NP_001009931.1:p.Ser372= NC_000001.11:152220512:A:T p.(Ser372=) NC_000001.11:152220512:A:T p.(Ser372=) NC_000001.11:152220512:A:T Identity +NM_001009931.3:c.636C>T NP_001009931.1:p.Ser212= NC_000001.11:152220992:G:A p.(Ser212=) NC_000001.11:152220992:G:A p.(Ser212=) NC_000001.11:152220992:G:A Identity +NM_002016.2:c.12145C>T NP_002007.1:p.Leu4049= NC_000001.11:152302740:G:A p.(Leu4049=) NC_000001.11:152302740:G:A p.(Leu4049=) NC_000001.11:152302740:G:A Identity +NM_002016.2:c.5649G>A NP_002007.1:p.Ser1883= NC_000001.11:152309236:C:T p.(Ser1883=) NC_000001.11:152309236:C:T p.(Ser1883=) NC_000001.11:152309236:C:T Identity +NM_002016.2:c.3099C>T NP_002007.1:p.His1033= NC_000001.11:152311786:G:A p.(His1033=) NC_000001.11:152311786:G:A p.(His1033=) NC_000001.11:152311786:G:A Identity +NM_001014342.3:c.3510G>A NP_001014364.1:p.Glu1170= NC_000001.11:152354275:C:T p.(Glu1170=) NC_000001.11:152354275:C:T p.(Glu1170=) NC_000001.11:152354275:C:T Identity +NM_001366177.2:c.6396A>G NP_001353106.1:p.Gln2132= NC_000001.11:155370934:T:C p.(Gln2132=) NC_000001.11:155370934:T:C p.(Gln2132=) NC_000001.11:155370934:T:C Identity +NM_003126.4:c.4707C>T NP_003117.2:p.Ser1569= NC_000001.11:158642440:G:A p.(Ser1569=) NC_000001.11:158642440:G:A p.(Ser1569=) NC_000001.11:158642440:G:A Identity +NM_001204961.2:c.378G>A NP_001191890.1:p.Ser126= NC_000001.11:164792605:G:A p.(Ser126=) NC_000001.11:164792605:G:A p.(Ser126=) NC_000001.11:164792605:G:A Identity +NM_014810.5:c.1998A>G NP_055625.4:p.Leu666= NC_000001.11:180014450:A:G p.(Leu666=) NC_000001.11:180014450:A:G p.(Leu666=) NC_000001.11:180014450:A:G Identity +NM_001174061.2:c.1950A>G NP_001167532.1:p.Pro650= NC_000001.11:183545017:A:G p.(Pro650=) NC_000001.11:183545017:A:G p.(Pro650=) NC_000001.11:183545017:A:G Identity +NM_194314.3:c.2463G>A NP_919290.2:p.Pro821= NC_000001.11:197159625:C:T p.(Pro821=) NC_000001.11:197159625:C:T p.(Pro821=) NC_000001.11:197159625:C:T Identity +NM_001281293.2:c.2226A>C NP_001268222.1:p.Gly742= NC_000001.11:200407479:T:G p.(Gly742=) NC_000001.11:200407479:T:G p.(Gly742=) NC_000001.11:200407479:T:G Identity +NM_000069.3:c.4443T>C NP_000060.2:p.Gly1481= NC_000001.11:201047624:A:G p.(Gly1481=) NC_000001.11:201047624:A:G p.(Gly1481=) NC_000001.11:201047624:A:G Identity +NM_001164586.2:c.9249G>A NP_001158058.1:p.Arg3083= NC_000001.11:201215791:G:A p.(Arg3083=) NC_000001.11:201215791:G:A p.(Arg3083=) NC_000001.11:201215791:G:A Identity +NM_000299.4:c.906C>T NP_000290.2:p.Asn302= NC_000001.11:201317630:C:T p.(Asn302=) NC_000001.11:201317630:C:T p.(Asn302=) NC_000001.11:201317630:C:T Identity +NM_016343.4:c.235C>T NP_057427.3:p.Leu79= NC_000001.11:214614903:C:T p.(Leu79=) NC_000001.11:214614903:C:T p.(Leu79=) NC_000001.11:214614903:C:T Identity +NM_206933.4:c.13713A>G NP_996816.3:p.Glu4571= NC_000001.11:215674197:T:C p.(Glu4571=) NC_000001.11:215674197:T:C p.(Glu4571=) NC_000001.11:215674197:T:C Identity +NM_003268.6:c.456A>C NP_003259.2:p.Leu152= NC_000001.11:223112575:T:G p.(Leu152=) NC_000001.11:223112575:T:G p.(Leu152=) NC_000001.11:223112575:T:G Identity +NM_014698.3:c.498C>T NP_055513.2:p.Leu166= NC_000001.11:225867903:G:A p.(Leu166=) NC_000001.11:225867903:G:A p.(Leu166=) NC_000001.11:225867903:G:A Identity +NM_014698.3:c.90C>G NP_055513.2:p.Ser30= NC_000001.11:225877490:G:C p.(Ser30=) NC_000001.11:225877490:G:C p.(Ser30=) NC_000001.11:225877490:G:C Identity +NM_001098623.2:c.6405C>T NP_001092093.2:p.Leu2135= NC_000001.11:228276633:C:T p.(Leu2135=) NC_000001.11:228276633:C:T p.(Leu2135=) NC_000001.11:228276633:C:T Identity +NM_001305424.2:c.3243G>A NP_001292353.1:p.Pro1081= NC_000001.11:240208042:G:A p.(Pro1081=) NC_000001.11:240208042:G:A p.(Pro1081=) NC_000001.11:240208042:G:A Identity +NM_001305424.2:c.3501C>T NP_001292353.1:p.Pro1167= NC_000001.11:240208300:C:T p.(Pro1167=) NC_000001.11:240208300:C:T p.(Pro1167=) NC_000001.11:240208300:C:T Identity +NM_001305424.2:c.3507T>G NP_001292353.1:p.Pro1169= NC_000001.11:240208306:T:G p.(Pro1169=) NC_000001.11:240208306:T:G p.(Pro1169=) NC_000001.11:240208306:T:G Identity +NM_018012.4:c.5196C>T NP_060482.2:p.Ile1732= NC_000001.11:245688178:C:T p.(Ile1732=) NC_000001.11:245688178:C:T p.(Ile1732=) NC_000001.11:245688178:C:T Identity +NM_207371.4:c.693C>T NP_997254.3:p.Ala231= NC_000010.11:21517129:G:A p.(Ala231=) NC_000010.11:21517129:G:A p.(Ala231=) NC_000010.11:21517129:G:A Identity +NM_001143766.2:c.2409C>T NP_001137238.1:p.Asp803= NC_000010.11:30845038:G:A p.(Asp803=) NC_000010.11:30845038:G:A p.(Asp803=) NC_000010.11:30845038:G:A Identity +NM_001142933.2:c.9G>A NP_001136405.2:p.Pro3= NC_000010.11:49616060:G:A p.(Pro3=) NC_000010.11:49616060:G:A p.(Pro3=) NC_000010.11:49616060:G:A Identity +NM_013451.4:c.4311A>G NP_038479.1:p.Pro1437= NC_000010.11:93343870:T:C p.(Pro1437=) NC_000010.11:93343870:T:C p.(Pro1437=) NC_000010.11:93343870:T:C Identity +NM_001017423.2:c.1476T>C NP_001017423.1:p.Ala492= NC_000010.11:95616599:A:G p.(Ala492=) NC_000010.11:95616599:A:G p.(Ala492=) NC_000010.11:95616599:A:G Identity +NM_000392.5:c.201T>G NP_000383.2:p.Ala67= NC_000010.11:99784774:T:G p.(Ala67=) NC_000010.11:99784774:T:G p.(Ala67=) NC_000010.11:99784774:T:G Identity +NM_005445.4:c.3408G>A NP_005436.1:p.Pro1136= NC_000010.11:110602934:G:A p.(Pro1136=) NC_000010.11:110602934:G:A p.(Pro1136=) NC_000010.11:110602934:G:A Identity +NM_001146274.2:c.1602G>A NP_001139746.1:p.Pro534= NC_000010.11:113165764:G:A p.(Pro534=) NC_000010.11:113165764:G:A p.(Pro534=) NC_000010.11:113165764:G:A Identity +NM_001291876.2:c.1650G>A NP_001278805.2:p.Thr550= NC_000010.11:122084149:G:A p.(Thr550=) NC_000010.11:122084149:G:A p.(Thr550=) NC_000010.11:122084149:G:A Identity +NM_001320644.2:c.1905T>C NP_001307573.1:p.Asp635= NC_000010.11:122589064:T:C p.(Asp635=) NC_000010.11:122589064:T:C p.(Asp635=) NC_000010.11:122589064:T:C Identity +NM_001145966.2:c.2571G>A NP_001139438.1:p.Lys857= NC_000010.11:128108188:C:T p.(Lys857=) NC_000010.11:128108188:C:T p.(Lys857=) NC_000010.11:128108188:C:T Identity +NM_001200049.3:c.3249G>A NP_001186978.2:p.Gln1083= NC_000010.11:132892387:C:T p.(Gln1083=) NC_000010.11:132892387:C:T p.(Gln1083=) NC_000010.11:132892387:C:T Identity +NM_001286136.2:c.495C>G NP_001273065.1:p.Gly165= NC_000011.10:198545:C:G p.(Gly165=) NC_000011.10:198545:C:G p.(Gly165=) NC_000011.10:198545:C:G Identity +NM_001098787.2:c.87C>T NP_001092257.1:p.Ala29= NC_000011.10:205975:G:A p.(Ala29=) NC_000011.10:205975:G:A p.(Ala29=) NC_000011.10:205975:G:A Identity +NM_005961.3:c.5610C>T NP_005952.2:p.His1870= NC_000011.10:1017190:G:A p.(His1870=) NC_000011.10:1017190:G:A p.(His1870=) NC_000011.10:1017190:G:A Identity +NM_002457.5:c.4335G>T NP_002448.5:p.Thr1445= NC_000011.10:1094577:G:T p.(Thr1445=) NC_000011.10:1094577:G:T p.(Thr1445=) NC_000011.10:1094577:G:T Identity +NM_002458.3:c.3087C>T NP_002449.2:p.Phe1029= NC_000011.10:1236953:C:T p.(Phe1029=) NC_000011.10:1236953:C:T p.(Phe1029=) NC_000011.10:1236953:C:T Identity +NM_002458.3:c.4287C>T NP_002449.2:p.Tyr1429= NC_000011.10:1241166:C:T p.(Tyr1429=) NC_000011.10:1241166:C:T p.(Tyr1429=) NC_000011.10:1241166:C:T Identity +NM_002458.3:c.6357A>C NP_002449.2:p.Thr2119= NC_000011.10:1243236:A:C p.(Thr2119=) NC_000011.10:1243236:A:C p.(Thr2119=) NC_000011.10:1243236:A:C Identity +NM_002458.3:c.7665C>T NP_002449.2:p.Thr2555= NC_000011.10:1244544:C:T p.(Thr2555=) NC_000011.10:1244544:C:T p.(Thr2555=) NC_000011.10:1244544:C:T Identity +NM_002458.3:c.11436C>T NP_002449.2:p.Thr3812= NC_000011.10:1248315:C:T p.(Thr3812=) NC_000011.10:1248315:C:T p.(Thr3812=) NC_000011.10:1248315:C:T Identity +NM_002458.3:c.11490T>C NP_002449.2:p.Thr3830= NC_000011.10:1248369:T:C p.(Thr3830=) NC_000011.10:1248369:T:C p.(Thr3830=) NC_000011.10:1248369:T:C Identity +NM_002458.3:c.13704G>A NP_002449.2:p.Thr4568= NC_000011.10:1250583:G:A p.(Thr4568=) NC_000011.10:1250583:G:A p.(Thr4568=) NC_000011.10:1250583:G:A Identity +NM_001277961.3:c.198G>A NP_001264890.1:p.Glu66= NC_000011.10:3967609:G:A p.(Glu66=) NC_000011.10:3967609:G:A p.(Glu66=) NC_000011.10:3967609:G:A Identity +NM_001031853.5:c.1245C>A NP_001027024.3:p.Ala415= NC_000011.10:15225761:C:A p.(Ala415=) NC_000011.10:15225761:C:A p.(Ala415=) NC_000011.10:15225761:C:A Identity +NM_001101802.3:c.69A>G NP_001095272.1:p.Gln23= NC_000011.10:46079151:T:C p.(Gln23=) NC_000011.10:46079151:T:C p.(Gln23=) NC_000011.10:46079151:T:C Identity +NM_001135943.2:c.780C>T NP_001129415.1:p.Pro260= NC_000011.10:47276018:C:T p.(Pro260=) NC_000011.10:47276018:C:T p.(Pro260=) NC_000011.10:47276018:C:T Identity +NM_001004726.1:c.681C>T NP_001004726.1:p.Asn227= NC_000011.10:48264540:C:T p.(Asn227=) NC_000011.10:48264540:C:T p.(Asn227=) NC_000011.10:48264540:C:T Identity +NM_001005213.2:c.423A>G NP_001005213.1:p.Ala141= NC_000011.10:56700809:A:G p.(Ala141=) NC_000011.10:56700809:A:G p.(Ala141=) NC_000011.10:56700809:A:G Identity +NM_001040694.2:c.2094C>G NP_001035784.1:p.Arg698= NC_000011.10:62146791:C:G p.(Arg698=) NC_000011.10:62146791:C:G p.(Arg698=) NC_000011.10:62146791:C:G Identity +NM_001346445.2:c.6228T>C NP_001333374.1:p.Asp2076= NC_000011.10:62528188:A:G p.(Asp2076=) NC_000011.10:62528188:A:G p.(Asp2076=) NC_000011.10:62528188:A:G Identity +NM_001411019.1:c.147C>T NP_001397948.1:p.Gly49= NC_000011.10:64165847:G:A p.(Gly49=) NC_000011.10:64165847:G:A p.(Gly49=) NC_000011.10:64165847:G:A Identity +NM_001300833.3:c.93C>T NP_001287762.1:p.Asp31= NC_000011.10:65389367:C:T p.(Asp31=) NC_000011.10:65389367:C:T p.(Asp31=) NC_000011.10:65389367:C:T Identity +NM_139075.4:c.159C>T NP_620714.2:p.Ile53= NC_000011.10:69054081:C:T p.(Ile53=) NC_000011.10:69054081:C:T p.(Ile53=) NC_000011.10:69054081:C:T Identity +NM_001378006.1:c.2514T>C NP_001364935.1:p.Ile838= NC_000011.10:70355731:T:C p.(Ile838=) NC_000011.10:70355731:T:C p.(Ile838=) NC_000011.10:70355731:T:C Identity +NM_001379226.1:c.4299C>T NP_001366155.1:p.Ile1433= NC_000011.10:70472982:G:A p.(Ile1433=) NC_000011.10:70472982:G:A p.(Ile1433=) NC_000011.10:70472982:G:A Identity +NM_001143839.4:c.2256T>C NP_001137311.1:p.Asp752= NC_000011.10:72579362:A:G p.(Asp752=) NC_000011.10:72579362:A:G p.(Asp752=) NC_000011.10:72579362:A:G Identity +NM_014786.4:c.6150T>C NP_055601.2:p.Gly2050= NC_000011.10:73367737:T:C p.(Gly2050=) NC_000011.10:73367737:T:C p.(Gly2050=) NC_000011.10:73367737:T:C Identity +NM_001039548.3:c.513C>G NP_001034637.2:p.Ala171= NC_000011.10:75430116:G:C p.(Ala171=) NC_000011.10:75430116:G:C p.(Ala171=) NC_000011.10:75430116:G:C Identity +NM_033063.2:c.168G>C NP_149052.1:p.Ala56= NC_000011.10:75668201:C:G p.(Ala56=) NC_000011.10:75668201:C:G p.(Ala56=) NC_000011.10:75668201:C:G Identity +NM_001128620.2:c.708C>T NP_001122092.1:p.Thr236= NC_000011.10:77355731:G:A p.(Thr236=) NC_000011.10:77355731:G:A p.(Thr236=) NC_000011.10:77355731:G:A Identity +NM_001204054.3:c.264G>A NP_001190983.1:p.Leu88= NC_000011.10:78069875:C:T p.(Leu88=) NC_000011.10:78069875:C:T p.(Leu88=) NC_000011.10:78069875:C:T Identity +NM_001142699.3:c.423A>G NP_001136171.1:p.Val141= NC_000011.10:84534665:T:C p.(Val141=) NC_000011.10:84534665:T:C p.(Val141=) NC_000011.10:84534665:T:C Identity +NM_001394447.1:c.4638A>G NP_001381376.1:p.Leu1546= NC_000011.10:85724716:T:C p.(Leu1546=) NC_000011.10:85724716:T:C p.(Leu1546=) NC_000011.10:85724716:T:C Identity +NM_001318533.2:c.969T>C NP_001305462.1:p.Val323= NC_000011.10:113341890:T:C p.(Val323=) NC_000011.10:113341890:T:C p.(Val323=) NC_000011.10:113341890:T:C Identity +NM_001040455.2:c.1149C>T NP_001035545.1:p.Tyr383= NC_000011.10:117187688:C:T p.(Tyr383=) NC_000011.10:117187688:C:T p.(Tyr383=) NC_000011.10:117187688:C:T Identity +NM_001077239.2:c.2022G>A NP_001070707.1:p.Ala674= NC_000011.10:117283185:G:A p.(Ala674=) NC_000011.10:117283185:G:A p.(Ala674=) NC_000011.10:117283185:G:A Identity +NM_001197104.2:c.4866C>T NP_001184033.1:p.Tyr1622= NC_000011.10:118491789:C:T p.(Tyr1622=) NC_000011.10:118491789:C:T p.(Tyr1622=) NC_000011.10:118491789:C:T Identity +NM_003105.6:c.6546G>T NP_003096.2:p.Gly2182= NC_000011.10:121627735:G:T p.(Gly2182=) NC_000011.10:121627735:G:T p.(Gly2182=) NC_000011.10:121627735:G:T Identity +NM_001177842.2:c.1176C>T NP_001171313.1:p.Val392= NC_000011.10:126265318:G:A p.(Val392=) NC_000011.10:126265318:G:A p.(Val392=) NC_000011.10:126265318:G:A Identity +NM_001170738.2:c.285G>A NP_001164209.1:p.Gln95= NC_000012.12:67166:G:A p.(Gln95=) NC_000012.12:67166:G:A p.(Gln95=) NC_000012.12:67166:G:A Identity +NM_000552.5:c.6825C>T NP_000543.3:p.His2275= NC_000012.12:5985638:G:A p.(His2275=) NC_000012.12:5985638:G:A p.(His2275=) NC_000012.12:5985638:G:A Identity +NM_014262.5:c.972G>A NP_055077.2:p.Glu324= NC_000012.12:6830756:G:A p.(Glu324=) NC_000012.12:6830756:G:A p.(Glu324=) NC_000012.12:6830756:G:A Identity +NM_000834.5:c.2457A>G NP_000825.2:p.Ala819= NC_000012.12:13567165:T:C p.(Ala819=) NC_000012.12:13567165:T:C p.(Ala819=) NC_000012.12:13567165:T:C Identity +NM_001082972.3:c.975T>C NP_001076441.1:p.Ser325= NC_000012.12:25144565:A:G p.(Ser325=) NC_000012.12:25144565:A:G p.(Ser325=) NC_000012.12:25144565:A:G Identity +NM_030762.3:c.100A>C NP_110389.1:p.Arg34= NC_000012.12:26124544:T:G p.(Arg34=) NC_000012.12:26124544:T:G p.(Arg34=) NC_000012.12:26124544:T:G Identity +NM_001193451.2:c.75G>A NP_001180380.1:p.Ala25= NC_000012.12:29783676:C:T p.(Ala25=) NC_000012.12:29783676:C:T p.(Ala25=) NC_000012.12:29783676:C:T Identity +NM_001257144.2:c.2733T>G NP_001244073.1:p.Thr911= NC_000012.12:31103852:T:G p.(Thr911=) NC_000012.12:31103852:T:G p.(Thr911=) NC_000012.12:31103852:T:G Identity +NM_001099650.2:c.180C>T NP_001093120.1:p.Ala60= NC_000012.12:42144466:G:A p.(Ala60=) NC_000012.12:42144466:G:A p.(Ala60=) NC_000012.12:42144466:G:A Identity +NM_001098415.1:c.2319C>T NP_001091885.1:p.Asp773= NC_000012.12:47788080:G:A ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found +NM_006262.4:c.807C>T NP_006253.2:p.Arg269= NC_000012.12:49296992:C:T p.(Arg269=) NC_000012.12:49296992:C:T p.(Arg269=) NC_000012.12:49296992:C:T Identity +NM_001145475.3:c.4680T>G NP_001138947.1:p.Ala1560= NC_000012.12:50352151:A:C p.(Ala1560=) NC_000012.12:50352151:A:C p.(Ala1560=) NC_000012.12:50352151:A:C Identity +NM_014620.6:c.387C>A NP_055435.2:p.Ala129= NC_000012.12:54054308:C:A p.(Ala129=) NC_000012.12:54054308:C:A p.(Ala129=) NC_000012.12:54054308:C:A Identity +NM_001130420.3:c.111G>A NP_001123892.1:p.Lys37= NC_000012.12:56189350:C:T p.(Lys37=) NC_000012.12:56189350:C:T p.(Lys37=) NC_000012.12:56189350:C:T Identity +NM_001330295.2:c.2502C>T NP_001317224.1:p.Leu834= NC_000012.12:56422124:G:A p.(Leu834=) NC_000012.12:56422124:G:A p.(Leu834=) NC_000012.12:56422124:G:A Identity +NM_002332.3:c.1545C>T NP_002323.2:p.Asp515= NC_000012.12:57156903:C:T p.(Asp515=) NC_000012.12:57156903:C:T p.(Asp515=) NC_000012.12:57156903:C:T Identity +NM_002332.3:c.9798G>A NP_002323.2:p.Thr3266= NC_000012.12:57199332:G:A p.(Thr3266=) NC_000012.12:57199332:G:A p.(Thr3266=) NC_000012.12:57199332:G:A Identity +NM_024312.5:c.69C>T NP_077288.2:p.Cys23= NC_000012.12:101830606:G:A p.(Cys23=) NC_000012.12:101830606:G:A p.(Cys23=) NC_000012.12:101830606:G:A Identity +NM_001161330.2:c.597C>T NP_001154802.1:p.Pro199= NC_000012.12:108807766:G:A p.(Pro199=) NC_000012.12:108807766:G:A p.(Pro199=) NC_000012.12:108807766:G:A Identity +NM_001370598.1:c.1758C>T NP_001357527.1:p.Asp586= NC_000012.12:111312142:C:T p.(Asp586=) NC_000012.12:111312142:C:T p.(Asp586=) NC_000012.12:111312142:C:T Identity +NM_001261825.2:c.606G>T NP_001248754.1:p.Arg202= NC_000012.12:121031492:C:A p.(Arg202=) NC_000012.12:121031492:C:A p.(Arg202=) NC_000012.12:121031492:C:A Identity +NM_001353345.2:c.2448C>G NP_001340274.1:p.Pro816= NC_000012.12:121814662:C:G p.(Pro816=) NC_000012.12:121814662:C:G p.(Pro816=) NC_000012.12:121814662:C:G Identity +NM_001353345.2:c.2508A>G NP_001340274.1:p.Pro836= NC_000012.12:121814722:A:G p.(Pro836=) NC_000012.12:121814722:A:G p.(Pro836=) NC_000012.12:121814722:A:G Identity +NM_001143850.3:c.1449A>G NP_001137322.1:p.Val483= NC_000012.12:123697144:A:G p.(Val483=) NC_000012.12:123697144:A:G p.(Val483=) NC_000012.12:123697144:A:G Identity +NM_001077261.4:c.4524G>A NP_001070729.2:p.Ser1508= NC_000012.12:124344756:C:T p.(Ser1508=) NC_000012.12:124344756:C:T p.(Ser1508=) NC_000012.12:124344756:C:T Identity +NM_021009.7:c.1029C>T NP_066289.3:p.Asp343= NC_000012.12:124912742:G:A p.(Asp343=) NC_000012.12:124912742:G:A p.(Asp343=) NC_000012.12:124912742:G:A Identity +NM_001351226.2:c.36G>A NP_001338155.1:p.Gln12= NC_000012.12:130478977:C:T p.(Gln12=) NC_000012.12:130478977:C:T p.(Gln12=) NC_000012.12:130478977:C:T Identity +NM_003565.4:c.2292G>A NP_003556.2:p.Thr764= NC_000012.12:131917519:G:A p.(Thr764=) NC_000012.12:131917519:G:A p.(Thr764=) NC_000012.12:131917519:G:A Identity +NM_001389683.1:c.4282C>T NP_001376612.1:p.Leu1428= NC_000012.12:132774181:G:A p.(Leu1428=) NC_000012.12:132774181:G:A p.(Leu1428=) NC_000012.12:132774181:G:A Identity +NM_001184993.2:c.3546A>G NP_001171922.1:p.Thr1182= NC_000013.11:24854091:A:G p.(Thr1182=) NC_000013.11:24854091:A:G p.(Thr1182=) NC_000013.11:24854091:A:G Identity +NM_001411012.1:c.6294C>T NP_001397941.1:p.Ser2098= NC_000013.11:32237861:C:T p.(Ser2098=) NC_000013.11:32237861:C:T p.(Ser2098=) NC_000013.11:32237861:C:T Identity +NM_001142294.2:c.492A>G NP_001135766.1:p.Gln164= NC_000013.11:36335338:T:C p.(Gln164=) NC_000013.11:36335338:T:C p.(Gln164=) NC_000013.11:36335338:T:C Identity +NM_001204504.3:c.1584G>A NP_001191433.1:p.Lys528= NC_000013.11:42187093:G:A p.(Lys528=) NC_000013.11:42187093:G:A p.(Lys528=) NC_000013.11:42187093:G:A Identity +NM_182542.3:c.1944C>G NP_872348.2:p.Ala648= NC_000013.11:45541608:G:C p.(Ala648=) NC_000013.11:45541608:G:C p.(Ala648=) NC_000013.11:45541608:G:C Identity +NM_001076788.2:c.210T>C NP_001070256.1:p.Tyr70= NC_000013.11:46044971:A:G p.(Tyr70=) NC_000013.11:46044971:A:G p.(Tyr70=) NC_000013.11:46044971:A:G Identity +NM_000053.4:c.1707A>G NP_000044.2:p.Thr569= NC_000013.11:51968443:T:C p.(Thr569=) NC_000013.11:51968443:T:C p.(Thr569=) NC_000013.11:51968443:T:C Identity +NM_001042517.2:c.768G>A NP_001035982.1:p.Thr256= NC_000013.11:60015915:C:T p.(Thr256=) NC_000013.11:60015915:C:T p.(Thr256=) NC_000013.11:60015915:C:T Identity +NM_001306080.2:c.3750C>G NP_001293009.1:p.Thr1250= NC_000013.11:75841701:C:G p.(Thr1250=) NC_000013.11:75841701:C:G p.(Thr1250=) NC_000013.11:75841701:C:G Identity +NM_001286839.2:c.450G>A NP_001273768.1:p.Thr150= NC_000013.11:98377871:G:A p.(Thr150=) NC_000013.11:98377871:G:A p.(Thr150=) NC_000013.11:98377871:G:A Identity +NM_001204425.2:c.4014T>C NP_001191354.2:p.His1338= NC_000013.11:102868230:T:C p.(His1338=) NC_000013.11:102868230:T:C p.(His1338=) NC_000013.11:102868230:T:C Identity +NM_001080396.3:c.1305A>G NP_001073865.1:p.Ala435= NC_000013.11:107170568:T:C p.(Ala435=) NC_000013.11:107170568:T:C p.(Ala435=) NC_000013.11:107170568:T:C Identity +NM_003749.3:c.30C>G NP_003740.2:p.Pro10= NC_000013.11:109786023:G:C p.(Pro10=) NC_000013.11:109786023:G:C p.(Pro10=) NC_000013.11:109786023:G:C Identity +NM_001405963.1:c.645G>C NP_001392892.1:p.Leu215= NC_000014.9:19748047:G:C p.(Leu215=) NC_000014.9:19748047:G:C p.(Leu215=) NC_000014.9:19748047:G:C Identity +NM_007192.4:c.486A>T NP_009123.1:p.Ile162= NC_000014.9:21369893:T:A p.(Ile162=) NC_000014.9:21369893:T:A p.(Ile162=) NC_000014.9:21369893:T:A Identity +NM_033400.3:c.621C>T NP_207646.2:p.Phe207= NC_000014.9:23534704:G:A p.(Phe207=) NC_000014.9:23534704:G:A p.(Phe207=) NC_000014.9:23534704:G:A Identity +NM_001160047.2:c.618C>T NP_001153519.1:p.Leu206= NC_000014.9:52511362:G:A p.(Leu206=) NC_000014.9:52511362:G:A p.(Leu206=) NC_000014.9:52511362:G:A Identity +NM_001024858.4:c.4212A>G NP_001020029.1:p.Ser1404= NC_000014.9:64782343:T:C p.(Ser1404=) NC_000014.9:64782343:T:C p.(Ser1404=) NC_000014.9:64782343:T:C Identity +NM_024734.4:c.117A>G NP_079010.2:p.Thr39= NC_000014.9:95230098:T:C p.(Thr39=) NC_000014.9:95230098:T:C p.(Thr39=) NC_000014.9:95230098:T:C Identity +NM_001350929.2:c.10386C>T NP_001337858.1:p.Pro3462= NC_000014.9:104944764:G:A p.(Pro3462=) NC_000014.9:104944764:G:A p.(Pro3462=) NC_000014.9:104944764:G:A Identity +NM_001350929.2:c.9840C>T NP_001337858.1:p.His3280= NC_000014.9:104945310:G:A p.(His3280=) NC_000014.9:104945310:G:A p.(His3280=) NC_000014.9:104945310:G:A Identity +NM_001350929.2:c.5748C>G NP_001337858.1:p.Pro1916= NC_000014.9:104949402:G:C p.(Pro1916=) NC_000014.9:104949402:G:C p.(Pro1916=) NC_000014.9:104949402:G:C Identity +NM_001350929.2:c.5274C>T NP_001337858.1:p.Ser1758= NC_000014.9:104949876:G:A p.(Ser1758=) NC_000014.9:104949876:G:A p.(Ser1758=) NC_000014.9:104949876:G:A Identity +NM_001350929.2:c.4203G>C NP_001337858.1:p.Pro1401= NC_000014.9:104950947:C:G p.(Pro1401=) NC_000014.9:104950947:C:G p.(Pro1401=) NC_000014.9:104950947:C:G Identity +NM_001350929.2:c.2799T>C NP_001337858.1:p.Ser933= NC_000014.9:104952351:A:G p.(Ser933=) NC_000014.9:104952351:A:G p.(Ser933=) NC_000014.9:104952351:A:G Identity +NM_001350929.2:c.2499C>G NP_001337858.1:p.Gly833= NC_000014.9:104952651:G:C p.(Gly833=) NC_000014.9:104952651:G:C p.(Gly833=) NC_000014.9:104952651:G:C Identity +NM_001350929.2:c.1809G>A NP_001337858.1:p.Pro603= NC_000014.9:104953341:C:T p.(Pro603=) NC_000014.9:104953341:C:T p.(Pro603=) NC_000014.9:104953341:C:T Identity +NM_001350929.2:c.555C>T NP_001337858.1:p.Tyr185= NC_000014.9:104954595:G:A p.(Tyr185=) NC_000014.9:104954595:G:A p.(Tyr185=) NC_000014.9:104954595:G:A Identity +NM_001387567.1:c.618C>G NP_001374496.1:p.Ala206= NC_000014.9:105249672:C:G p.(Ala206=) NC_000014.9:105249672:C:G p.(Ala206=) NC_000014.9:105249672:C:G Identity +NM_019066.5:c.570T>C NP_061939.3:p.Ala190= NC_000015.10:23647172:A:G p.(Ala190=) NC_000015.10:23647172:A:G p.(Ala190=) NC_000015.10:23647172:A:G Identity +NM_024490.4:c.3801C>T NP_077816.1:p.Ala1267= NC_000015.10:25680185:G:A p.(Ala1267=) NC_000015.10:25680185:G:A p.(Ala1267=) NC_000015.10:25680185:G:A Identity +NM_004667.6:c.9384C>T NP_004658.3:p.Tyr3128= NC_000015.10:28176997:G:A p.(Tyr3128=) NC_000015.10:28176997:G:A p.(Tyr3128=) NC_000015.10:28176997:G:A Identity +NM_004667.6:c.1782G>A NP_004658.3:p.Pro594= NC_000015.10:28265705:C:T p.(Pro594=) NC_000015.10:28265705:C:T p.(Pro594=) NC_000015.10:28265705:C:T Identity +NM_001382637.1:c.2454G>C NP_001369566.1:p.Pro818= NC_000015.10:31483641:C:G p.(Pro818=) NC_000015.10:31483641:C:G p.(Pro818=) NC_000015.10:31483641:C:G Identity +NM_001355281.2:c.912C>T NP_001342210.1:p.Asp304= NC_000015.10:35084198:G:A p.(Asp304=) NC_000015.10:35084198:G:A p.(Asp304=) NC_000015.10:35084198:G:A Identity +NM_144508.5:c.840G>T NP_653091.3:p.Gly280= NC_000015.10:40621103:G:T p.(Gly280=) NC_000015.10:40621103:G:T p.(Gly280=) NC_000015.10:40621103:G:T Identity +NM_016642.4:c.4239C>T NP_057726.4:p.Asp1413= NC_000015.10:41875505:G:A p.(Asp1413=) NC_000015.10:41875505:G:A p.(Asp1413=) NC_000015.10:41875505:G:A Identity +NM_001284306.2:c.2289G>C NP_001271235.1:p.Leu763= NC_000015.10:42435461:C:G p.(Leu763=) NC_000015.10:42435461:C:G p.(Leu763=) NC_000015.10:42435461:C:G Identity +NM_001080534.3:c.5922A>G NP_001074003.1:p.Gln1974= NC_000015.10:54555475:A:G p.(Gln1974=) NC_000015.10:54555475:A:G p.(Gln1974=) NC_000015.10:54555475:A:G Identity +NM_001018088.3:c.8490A>T NP_001018098.1:p.Ser2830= NC_000015.10:61913370:T:A p.(Ser2830=) NC_000015.10:61913370:T:A p.(Ser2830=) NC_000015.10:61913370:T:A Identity +NM_139242.4:c.972C>T NP_640335.2:p.Cys324= NC_000015.10:65004856:G:A p.(Cys324=) NC_000015.10:65004856:G:A p.(Cys324=) NC_000015.10:65004856:G:A Identity +NM_001301186.2:c.1485C>T NP_001288115.1:p.Asn495= NC_000015.10:77614403:G:A p.(Asn495=) NC_000015.10:77614403:G:A p.(Asn495=) NC_000015.10:77614403:G:A Identity +NM_001301186.2:c.1425G>A NP_001288115.1:p.Thr475= NC_000015.10:77614463:C:T p.(Thr475=) NC_000015.10:77614463:C:T p.(Thr475=) NC_000015.10:77614463:C:T Identity +NM_001301110.2:c.4878C>T NP_001288039.1:p.His1626= NC_000015.10:84036895:C:T p.(His1626=) NC_000015.10:84036895:C:T p.(His1626=) NC_000015.10:84036895:C:T Identity +NM_001270546.1:c.2103G>A NP_001257475.1:p.Val701= NC_000015.10:85719313:G:A p.(Val701=) NC_000015.10:85719313:G:A p.(Val701=) NC_000015.10:85719313:G:A Identity +NM_198526.4:c.441C>T NP_940928.2:p.Cys147= NC_000015.10:90067577:C:T p.(Cys147=) NC_000015.10:90067577:C:T p.(Cys147=) NC_000015.10:90067577:C:T Identity +NM_001289823.2:c.435C>T NP_001276752.1:p.His145= NC_000015.10:90876957:C:T p.(His145=) NC_000015.10:90876957:C:T p.(His145=) NC_000015.10:90876957:C:T Identity +NM_000875.5:c.3348C>T NP_000866.1:p.Ala1116= NC_000015.10:98939250:C:T p.(Ala1116=) NC_000015.10:98939250:C:T p.(Ala1116=) NC_000015.10:98939250:C:T Identity +NM_006849.4:c.588C>T NP_006840.2:p.Asp196= NC_000016.10:284924:C:T p.(Asp196=) NC_000016.10:284924:C:T p.(Asp196=) NC_000016.10:284924:C:T Identity +NM_145294.5:c.3060C>T NP_660337.3:p.Gly1020= NC_000016.10:659251:C:T p.(Gly1020=) NC_000016.10:659251:C:T p.(Gly1020=) NC_000016.10:659251:C:T Identity +NM_001293197.2:c.411G>A NP_001280126.1:p.Ala137= NC_000016.10:682033:G:A p.(Ala137=) NC_000016.10:682033:G:A p.(Ala137=) NC_000016.10:682033:G:A Identity +NM_003294.4:c.825G>A NP_003285.2:p.Pro275= NC_000016.10:1242236:G:A p.(Pro275=) NC_000016.10:1242236:G:A p.(Pro275=) NC_000016.10:1242236:G:A Identity +NM_001040439.2:c.1953C>T NP_001035529.1:p.Asp651= NC_000016.10:1763731:C:T p.(Asp651=) NC_000016.10:1763731:C:T p.(Asp651=) NC_000016.10:1763731:C:T Identity +NM_032271.3:c.465C>T NP_115647.2:p.Ala155= NC_000016.10:2171594:C:T p.(Ala155=) NC_000016.10:2171594:C:T p.(Ala155=) NC_000016.10:2171594:C:T Identity +NM_001323538.2:c.714C>T NP_001310467.1:p.Ser238= NC_000016.10:2453459:C:T p.(Ser238=) NC_000016.10:2453459:C:T p.(Ser238=) NC_000016.10:2453459:C:T Identity +NM_001079846.1:c.2622C>T NP_001073315.1:p.Thr874= NC_000016.10:3770713:G:A p.(Thr874=) NC_000016.10:3770713:G:A p.(Thr874=) NC_000016.10:3770713:G:A Identity +NM_000418.4:c.1758C>T NP_000409.1:p.Gly586= NC_000016.10:27363109:C:T p.(Gly586=) NC_000016.10:27363109:C:T p.(Gly586=) NC_000016.10:27363109:C:T Identity +NM_001055.4:c.300G>A NP_001046.2:p.Pro100= NC_000016.10:28608362:C:T p.(Pro100=) NC_000016.10:28608362:C:T p.(Pro100=) NC_000016.10:28608362:C:T Identity +NM_024671.4:c.1494C>G NP_078947.3:p.Ser498= NC_000016.10:30524645:G:C p.(Ser498=) NC_000016.10:30524645:G:C p.(Ser498=) NC_000016.10:30524645:G:C Identity +NM_006662.3:c.8463C>T NP_006653.2:p.Pro2821= NC_000016.10:30738502:C:T p.(Pro2821=) NC_000016.10:30738502:C:T p.(Pro2821=) NC_000016.10:30738502:C:T Identity +NM_006662.3:c.8640A>T NP_006653.2:p.Ala2880= NC_000016.10:30738679:A:T p.(Ala2880=) NC_000016.10:30738679:A:T p.(Ala2880=) NC_000016.10:30738679:A:T Identity +NM_014712.3:c.717C>T NP_055527.1:p.Asn239= NC_000016.10:30964170:C:T p.(Asn239=) NC_000016.10:30964170:C:T p.(Asn239=) NC_000016.10:30964170:C:T Identity +NM_018206.6:c.696T>C NP_060676.2:p.Gly232= NC_000016.10:46678966:A:G p.(Gly232=) NC_000016.10:46678966:A:G p.(Gly232=) NC_000016.10:46678966:A:G Identity +NM_001114.5:c.2799C>T NP_001105.1:p.Ile933= NC_000016.10:50314004:C:T p.(Ile933=) NC_000016.10:50314004:C:T p.(Ile933=) NC_000016.10:50314004:C:T Identity +NM_001293557.2:c.870T>A NP_001280486.1:p.Ala290= NC_000016.10:50710861:T:A p.(Ala290=) NC_000016.10:50710861:T:A p.(Ala290=) NC_000016.10:50710861:T:A Identity +NM_001265612.2:c.5571C>G NP_001252541.1:p.Leu1857= NC_000016.10:58537048:G:C p.(Leu1857=) NC_000016.10:58537048:G:C p.(Leu1857=) NC_000016.10:58537048:G:C Identity +NM_001365405.1:c.51T>C NP_001352334.1:p.Leu17= NC_000016.10:66935685:T:C p.(Leu17=) NC_000016.10:66935685:T:C p.(Leu17=) NC_000016.10:66935685:T:C Identity +NM_001193522.2:c.1161C>T NP_001180451.1:p.Asp387= NC_000016.10:67541934:C:T p.(Asp387=) NC_000016.10:67541934:C:T p.(Asp387=) NC_000016.10:67541934:C:T Identity +NM_002801.4:c.9G>A NP_002792.1:p.Lys3= NC_000016.10:67936740:C:T p.(Lys3=) NC_000016.10:67936740:C:T p.(Lys3=) NC_000016.10:67936740:C:T Identity +NM_001322117.1:c.1086A>T NP_001309046.1:p.Thr362= NC_000016.10:70136281:A:T p.(Thr362=) NC_000016.10:70136281:A:T p.(Thr362=) NC_000016.10:70136281:A:T Identity +NM_001270974.2:c.11931G>A NP_001257903.1:p.Leu3977= NC_000016.10:70860747:C:T p.(Leu3977=) NC_000016.10:70860747:C:T p.(Leu3977=) NC_000016.10:70860747:C:T Identity +NM_001080442.3:c.576C>T NP_001073911.1:p.Thr192= NC_000016.10:84031922:G:A p.(Thr192=) NC_000016.10:84031922:G:A p.(Thr192=) NC_000016.10:84031922:G:A Identity +NM_001243156.2:c.1938G>A NP_001230085.2:p.Glu646= NC_000016.10:84179534:C:T p.(Glu646=) NC_000016.10:84179534:C:T p.(Glu646=) NC_000016.10:84179534:C:T Identity +NM_001282683.2:c.273C>T NP_001269612.1:p.His91= NC_000016.10:87336207:G:A p.(His91=) NC_000016.10:87336207:G:A p.(His91=) NC_000016.10:87336207:G:A Identity +NM_020655.4:c.855C>T NP_065706.2:p.Thr285= NC_000016.10:87644729:C:T p.(Thr285=) NC_000016.10:87644729:C:T p.(Thr285=) NC_000016.10:87644729:C:T Identity +NM_000135.4:c.3813A>G NP_000126.2:p.Ser1271= NC_000016.10:89740818:T:C p.(Ser1271=) NC_000016.10:89740818:T:C p.(Ser1271=) NC_000016.10:89740818:T:C Identity +NM_015721.3:c.3090C>T NP_056536.2:p.His1030= NC_000017.11:744952:G:A p.(His1030=) NC_000017.11:744952:G:A p.(His1030=) NC_000017.11:744952:G:A Identity +NM_001163673.2:c.654G>T NP_001157145.1:p.Leu218= NC_000017.11:1732429:G:T p.(Leu218=) NC_000017.11:1732429:G:T p.(Leu218=) NC_000017.11:1732429:G:T Identity +NM_000934.4:c.927C>T NP_000925.2:p.Asn309= NC_000017.11:1752653:C:T p.(Asn309=) NC_000017.11:1752653:C:T p.(Asn309=) NC_000017.11:1752653:C:T Identity +NM_001080424.2:c.1479A>C NP_001073893.1:p.Ala493= NC_000017.11:7847766:A:C p.(Ala493=) NC_000017.11:7847766:A:C p.(Ala493=) NC_000017.11:7847766:A:C Identity +NM_001005271.3:c.4746C>T NP_001005271.2:p.Ala1582= NC_000017.11:7906933:C:T p.(Ala1582=) NC_000017.11:7906933:C:T p.(Ala1582=) NC_000017.11:7906933:C:T Identity +NM_002472.3:c.1548T>C NP_002463.2:p.Phe516= NC_000017.11:10410815:A:G p.(Phe516=) NC_000017.11:10410815:A:G p.(Phe516=) NC_000017.11:10410815:A:G Identity +NM_001364716.4:c.1218G>A NP_001351645.2:p.Glu406= NC_000017.11:17138396:G:A p.(Glu406=) NC_000017.11:17138396:G:A p.(Glu406=) NC_000017.11:17138396:G:A Identity +NM_016239.4:c.8319C>T NP_057323.3:p.Phe2773= NC_000017.11:18155203:C:T p.(Phe2773=) NC_000017.11:18155203:C:T p.(Phe2773=) NC_000017.11:18155203:C:T Identity +NM_001321207.2:c.678G>A NP_001308136.1:p.Ser226= NC_000017.11:31975636:G:A p.(Ser226=) NC_000017.11:31975636:G:A p.(Ser226=) NC_000017.11:31975636:G:A Identity +NM_144682.6:c.1677C>T NP_653283.3:p.Leu559= NC_000017.11:35441807:G:A p.(Leu559=) NC_000017.11:35441807:G:A p.(Leu559=) NC_000017.11:35441807:G:A Identity +NM_001123391.4:c.879C>T NP_001116863.3:p.Gly293= NC_000017.11:38184095:G:A p.(Gly293=) NC_000017.11:38184095:G:A p.(Gly293=) NC_000017.11:38184095:G:A Identity +NM_001165937.2:c.597C>T NP_001159409.1:p.Ser199= NC_000017.11:39658770:C:T p.(Ser199=) NC_000017.11:39658770:C:T p.(Ser199=) NC_000017.11:39658770:C:T Identity +NM_012232.6:c.45G>A NP_036364.2:p.Gly15= NC_000017.11:42423052:C:T p.(Gly15=) NC_000017.11:42423052:C:T p.(Gly15=) NC_000017.11:42423052:C:T Identity +NM_030753.5:c.258C>T NP_110380.1:p.Gly86= NC_000017.11:46773731:G:A p.(Gly86=) NC_000017.11:46773731:G:A p.(Gly86=) NC_000017.11:46773731:G:A Identity +NM_198387.3:c.442C>T NP_938201.1:p.Leu148= NC_000017.11:50569251:C:T p.(Leu148=) NC_000017.11:50569251:C:T p.(Leu148=) NC_000017.11:50569251:C:T Identity +NM_001256324.2:c.1302G>A NP_001243253.1:p.Glu434= NC_000017.11:50575703:G:A p.(Glu434=) NC_000017.11:50575703:G:A p.(Glu434=) NC_000017.11:50575703:G:A Identity +NM_001394998.1:c.1920C>T NP_001381927.1:p.Ile640= NC_000017.11:63351361:C:T p.(Ile640=) NC_000017.11:63351361:C:T p.(Ile640=) NC_000017.11:63351361:C:T Identity +NM_001316341.2:c.252G>A NP_001303270.1:p.Ala84= NC_000017.11:67348630:C:T p.(Ala84=) NC_000017.11:67348630:C:T p.(Ala84=) NC_000017.11:67348630:C:T Identity +NM_004459.7:c.5661G>A NP_004450.3:p.Pro1887= NC_000017.11:67913166:G:A p.(Pro1887=) NC_000017.11:67913166:G:A p.(Pro1887=) NC_000017.11:67913166:G:A Identity +NM_001377321.1:c.3987C>T NP_001364250.1:p.Leu1329= NC_000017.11:69153524:G:A p.(Leu1329=) NC_000017.11:69153524:G:A p.(Leu1329=) NC_000017.11:69153524:G:A Identity +NM_001144952.2:c.2907C>T NP_001138424.1:p.Ala969= NC_000017.11:73401083:G:A p.(Ala969=) NC_000017.11:73401083:G:A p.(Ala969=) NC_000017.11:73401083:G:A Identity +NM_001006638.3:c.186C>G NP_001006639.1:p.Thr62= NC_000017.11:74740859:C:G p.(Thr62=) NC_000017.11:74740859:C:G p.(Thr62=) NC_000017.11:74740859:C:G Identity +NM_001256124.2:c.606C>T NP_001243053.1:p.Ile202= NC_000017.11:75892404:G:A p.(Ile202=) NC_000017.11:75892404:G:A p.(Ile202=) NC_000017.11:75892404:G:A Identity +NM_001411099.1:c.1089C>T NP_001398028.1:p.Asp363= NC_000017.11:80136070:G:A p.(Asp363=) NC_000017.11:80136070:G:A p.(Asp363=) NC_000017.11:80136070:G:A Identity +NM_001257970.1:c.828G>C NP_001244899.1:p.Ser276= NC_000017.11:80188528:G:C p.(Ser276=) NC_000017.11:80188528:G:C p.(Ser276=) NC_000017.11:80188528:G:C Identity +NM_001256071.3:c.9183G>A NP_001243000.2:p.Glu3061= NC_000017.11:80347517:G:A p.(Glu3061=) NC_000017.11:80347517:G:A p.(Glu3061=) NC_000017.11:80347517:G:A Identity +NM_001291324.3:c.7008C>T NP_001278253.1:p.Gly2336= NC_000017.11:81461577:C:T p.(Gly2336=) NC_000017.11:81461577:C:T p.(Gly2336=) NC_000017.11:81461577:C:T Identity +NM_001270888.2:c.639C>T NP_001257817.1:p.Asp213= NC_000017.11:81717767:C:T p.(Asp213=) NC_000017.11:81717767:C:T p.(Asp213=) NC_000017.11:81717767:C:T Identity +NM_002917.2:c.522C>T NP_002908.1:p.Pro174= NC_000017.11:82050452:G:A p.(Pro174=) NC_000017.11:82050452:G:A p.(Pro174=) NC_000017.11:82050452:G:A Identity +NM_005559.4:c.3663G>A NP_005550.2:p.Leu1221= NC_000018.10:7011323:C:T p.(Leu1221=) NC_000018.10:7011323:C:T p.(Leu1221=) NC_000018.10:7011323:C:T Identity +NM_001098529.2:c.1053C>T NP_001091999.1:p.Thr351= NC_000018.10:9887531:C:T p.(Thr351=) NC_000018.10:9887531:C:T p.(Thr351=) NC_000018.10:9887531:C:T Identity +NM_001367607.2:c.2841T>C NP_001354536.1:p.Thr947= NC_000018.10:14831448:T:C p.(Thr947=) NC_000018.10:14831448:T:C p.(Thr947=) NC_000018.10:14831448:T:C Identity +NM_001142966.3:c.5175T>C NP_001136438.1:p.Ser1725= NC_000018.10:21516657:T:C p.(Ser1725=) NC_000018.10:21516657:T:C p.(Ser1725=) NC_000018.10:21516657:T:C Identity +NM_030632.3:c.4080T>A NP_085135.1:p.Ile1360= NC_000018.10:33743927:T:A p.(Ile1360=) NC_000018.10:33743927:T:A p.(Ile1360=) NC_000018.10:33743927:T:A Identity +NM_001281739.3:c.3423C>T NP_001268668.1:p.Ser1141= NC_000018.10:36744150:C:T p.(Ser1141=) NC_000018.10:36744150:C:T p.(Ser1141=) NC_000018.10:36744150:C:T Identity +NM_012283.2:c.268C>T NP_036415.1:p.Leu90= NC_000018.10:79863934:C:T p.(Leu90=) NC_000018.10:79863934:C:T p.(Leu90=) NC_000018.10:79863934:C:T Identity +NM_001387056.1:c.483C>T NP_001373985.1:p.Ile161= NC_000019.10:440917:G:A p.(Ile161=) NC_000019.10:440917:G:A p.(Ile161=) NC_000019.10:440917:G:A Identity +NM_001407805.1:c.3327G>A NP_001394734.1:p.Lys1109= NC_000019.10:618582:C:T p.(Lys1109=) NC_000019.10:618582:C:T p.(Lys1109=) NC_000019.10:618582:C:T Identity +NM_005481.3:c.1743C>T NP_005472.2:p.Thr581= NC_000019.10:875271:G:A p.(Thr581=) NC_000019.10:875271:G:A p.(Thr581=) NC_000019.10:875271:G:A Identity +NM_032551.5:c.870C>T NP_115940.2:p.Pro290= NC_000019.10:920420:C:T p.(Pro290=) NC_000019.10:920420:C:T p.(Pro290=) NC_000019.10:920420:C:T Identity +NM_001100122.2:c.1572C>T NP_001093592.1:p.Arg524= NC_000019.10:1116887:G:A p.(Arg524=) NC_000019.10:1116887:G:A p.(Arg524=) NC_000019.10:1116887:G:A Identity +NM_001100122.2:c.1326C>T NP_001093592.1:p.Phe442= NC_000019.10:1119040:G:A p.(Phe442=) NC_000019.10:1119040:G:A p.(Phe442=) NC_000019.10:1119040:G:A Identity +NM_001388306.1:c.927C>T NP_001375235.1:p.Gly309= NC_000019.10:1255002:C:T p.(Gly309=) NC_000019.10:1255002:C:T p.(Gly309=) NC_000019.10:1255002:C:T Identity +NM_001351273.1:c.5782C>A NP_001338202.1:p.Arg1928= NC_000019.10:1469085:C:A p.(Arg1928=) NC_000019.10:1469085:C:A p.(Arg1928=) NC_000019.10:1469085:C:A Identity +NM_001411144.1:c.2169G>A NP_001398073.1:p.Ser723= NC_000019.10:3591406:G:A p.(Ser723=) NC_000019.10:3591406:G:A p.(Ser723=) NC_000019.10:3591406:G:A Identity +NM_033064.5:c.705G>C NP_149053.1:p.Leu235= NC_000019.10:3909542:G:C p.(Leu235=) NC_000019.10:3909542:G:C p.(Leu235=) NC_000019.10:3909542:G:C Identity +NM_001961.4:c.132C>T NP_001952.1:p.Gly44= NC_000019.10:3984221:G:A p.(Gly44=) NC_000019.10:3984221:G:A p.(Gly44=) NC_000019.10:3984221:G:A Identity +NM_001289177.2:c.804T>C NP_001276106.1:p.Val268= NC_000019.10:6177293:T:C p.(Val268=) NC_000019.10:6177293:T:C p.(Val268=) NC_000019.10:6177293:T:C Identity +NM_144614.4:c.387A>G NP_653215.2:p.Arg129= NC_000019.10:7051381:A:G p.(Arg129=) NC_000019.10:7051381:A:G p.(Arg129=) NC_000019.10:7051381:A:G Identity +NM_001401501.2:c.34866A>G NP_001388430.1:p.Ala11622= NC_000019.10:8936208:T:C p.(Ala11622=) NC_000019.10:8936208:T:C p.(Ala11622=) NC_000019.10:8936208:T:C Identity +NM_001401501.2:c.20601T>C NP_001388430.1:p.Thr6867= NC_000019.10:8956288:A:G p.(Thr6867=) NC_000019.10:8956288:A:G p.(Thr6867=) NC_000019.10:8956288:A:G Identity +NM_001401501.2:c.18249T>C NP_001388430.1:p.Val6083= NC_000019.10:8958640:A:G p.(Val6083=) NC_000019.10:8958640:A:G p.(Val6083=) NC_000019.10:8958640:A:G Identity +NM_001166215.2:c.984C>T NP_001159687.1:p.Cys328= NC_000019.10:10514027:G:A p.(Cys328=) NC_000019.10:10514027:G:A p.(Cys328=) NC_000019.10:10514027:G:A Identity +NM_014975.3:c.969C>T NP_055790.1:p.Tyr323= NC_000019.10:12852206:C:T p.(Tyr323=) NC_000019.10:12852206:C:T p.(Tyr323=) NC_000019.10:12852206:C:T Identity +NM_052876.4:c.735G>A NP_443108.1:p.Gly245= NC_000019.10:13135941:G:A p.(Gly245=) NC_000019.10:13135941:G:A p.(Gly245=) NC_000019.10:13135941:G:A Identity +NM_001367834.3:c.2616C>T NP_001354763.1:p.Ala872= NC_000019.10:13830344:C:T p.(Ala872=) NC_000019.10:13830344:C:T p.(Ala872=) NC_000019.10:13830344:C:T Identity +NM_138352.3:c.663A>C NP_612361.1:p.Pro221= NC_000019.10:14090075:T:G ERR:TranscriptMismatch:expected A, found G at transcript indices 993..994 NC_000019.10:14089335:C:G ERR:NM_138352.3:c.663A>C: Variant reference (A) does not agree with reference sequence (G) ERR:NM_138352.3:c.663A>C: Variant reference (A) does not agree with reference sequence (G) Unknown +NM_013940.4:c.207C>T NP_039228.1:p.Ser69= NC_000019.10:15807830:G:A p.(Ser69=) NC_000019.10:15807830:G:A p.(Ser69=) NC_000019.10:15807830:G:A Identity +NM_024656.4:c.168C>T NP_078932.2:p.Ile56= NC_000019.10:17555880:C:T p.(Ile56=) NC_000019.10:17555880:C:T p.(Ile56=) NC_000019.10:17555880:C:T Identity +NM_001145304.2:c.2718A>G NP_001138776.1:p.Glu906= NC_000019.10:18264821:T:C p.(Glu906=) NC_000019.10:18264821:T:C p.(Glu906=) NC_000019.10:18264821:T:C Identity +NM_031218.4:c.1362G>A NP_112495.2:p.Lys454= NC_000019.10:19934316:G:A p.(Lys454=) NC_000019.10:19934316:G:A p.(Lys454=) NC_000019.10:19934316:G:A Identity +NM_014727.3:c.1116A>G NP_055542.1:p.Glu372= NC_000019.10:35720462:A:G p.(Glu372=) NC_000019.10:35720462:A:G p.(Glu372=) NC_000019.10:35720462:A:G Identity +NM_144617.3:c.462A>T NP_653218.1:p.Pro154= NC_000019.10:35755542:T:A p.(Pro154=) NC_000019.10:35755542:T:A p.(Pro154=) NC_000019.10:35755542:T:A Identity +NM_152279.4:c.2286T>C NP_689492.3:p.Ser762= NC_000019.10:37185250:A:G p.(Ser762=) NC_000019.10:37185250:A:G p.(Ser762=) NC_000019.10:37185250:A:G Identity +NM_177417.3:c.1485C>T NP_803136.2:p.Ser495= NC_000019.10:45351326:C:T p.(Ser495=) NC_000019.10:45351326:C:T p.(Ser495=) NC_000019.10:45351326:C:T Identity +NM_001193268.3:c.939C>A NP_001180197.1:p.Ala313= NC_000019.10:45633132:G:T p.(Ala313=) NC_000019.10:45633132:G:T p.(Ala313=) NC_000019.10:45633132:G:T Identity +NM_001394372.1:c.4050A>C NP_001381301.1:p.Pro1350= NC_000019.10:47701781:A:C p.(Pro1350=) NC_000019.10:47701781:A:C p.(Pro1350=) NC_000019.10:47701781:A:C Identity +NM_001397346.1:c.867G>A NP_001384275.1:p.Pro289= NC_000019.10:47802308:C:T p.(Pro289=) NC_000019.10:47802308:C:T p.(Pro289=) NC_000019.10:47802308:C:T Identity +NM_020719.3:c.2025G>T NP_065770.1:p.Gly675= NC_000019.10:49596359:G:T p.(Gly675=) NC_000019.10:49596359:G:T p.(Gly675=) NC_000019.10:49596359:G:T Identity +NM_175063.6:c.357G>C NP_778233.4:p.Leu119= NC_000019.10:50480169:G:C p.(Leu119=) NC_000019.10:50480169:G:C p.(Leu119=) NC_000019.10:50480169:G:C Identity +NM_001174081.3:c.1602C>T NP_001167552.1:p.Asp534= NC_000019.10:54983299:C:T p.(Asp534=) NC_000019.10:54983299:C:T p.(Asp534=) NC_000019.10:54983299:C:T Identity +NM_001256714.1:c.1263G>C NP_001243643.1:p.Pro421= NC_000019.10:55159999:C:G p.(Pro421=) NC_000019.10:55159999:C:G p.(Pro421=) NC_000019.10:55159999:C:G Identity +NM_001145402.2:c.1686C>T NP_001138874.1:p.Gly562= NC_000019.10:55359181:G:A p.(Gly562=) NC_000019.10:55359181:G:A p.(Gly562=) NC_000019.10:55359181:G:A Identity +NM_001297743.3:c.1050A>C NP_001284672.1:p.Ile350= NC_000019.10:55809262:T:G p.(Ile350=) NC_000019.10:55809262:T:G p.(Ile350=) NC_000019.10:55809262:T:G Identity +NM_021089.3:c.1059C>T NP_066575.2:p.Asn353= NC_000019.10:58294866:C:T p.(Asn353=) NC_000019.10:58294866:C:T p.(Asn353=) NC_000019.10:58294866:C:T Identity +NM_001303052.2:c.3285G>A NP_001289981.1:p.Thr1095= NC_000002.12:1792455:C:T p.(Thr1095=) NC_000002.12:1792455:C:T p.(Thr1095=) NC_000002.12:1792455:C:T Identity +NM_001348729.2:c.4494C>T NP_001335658.1:p.Ser1498= NC_000002.12:8731544:G:A p.(Ser1498=) NC_000002.12:8731544:G:A p.(Ser1498=) NC_000002.12:8731544:G:A Identity +NM_012344.4:c.1164G>A NP_036476.2:p.Pro388= NC_000002.12:11658547:C:T p.(Pro388=) NC_000002.12:11658547:C:T p.(Pro388=) NC_000002.12:11658547:C:T Identity +NM_001362950.1:c.675T>G NP_001349879.1:p.Thr225= NC_000002.12:24691622:T:G p.(Thr225=) NC_000002.12:24691622:T:G p.(Thr225=) NC_000002.12:24691622:T:G Identity +NM_001145168.1:c.1698G>A NP_001138640.1:p.Arg566= NC_000002.12:26312029:C:T p.(Arg566=) NC_000002.12:26312029:C:T p.(Arg566=) NC_000002.12:26312029:C:T Identity +NM_000104.4:c.1278T>G NP_000095.2:p.Ser426= NC_000002.12:38071075:A:C p.(Ser426=) NC_000002.12:38071075:A:C p.(Ser426=) NC_000002.12:38071075:A:C Identity +NM_003128.3:c.4800C>T NP_003119.2:p.Asp1600= NC_000002.12:54646408:C:T p.(Asp1600=) NC_000002.12:54646408:C:T p.(Asp1600=) NC_000002.12:54646408:C:T Identity +NM_001080433.2:c.1149C>A NP_001073902.1:p.Gly383= NC_000002.12:56193348:C:A p.(Gly383=) NC_000002.12:56193348:C:A p.(Gly383=) NC_000002.12:56193348:C:A Identity +NM_001291746.2:c.906A>G NP_001278675.1:p.Lys302= NC_000002.12:60920092:A:G p.(Lys302=) NC_000002.12:60920092:A:G p.(Lys302=) NC_000002.12:60920092:A:G Identity +NM_001042692.3:c.1692G>A NP_001036157.1:p.Leu564= NC_000002.12:63152934:C:T p.(Leu564=) NC_000002.12:63152934:C:T p.(Leu564=) NC_000002.12:63152934:C:T Identity +NM_144563.3:c.585C>T NP_653164.2:p.Ile195= NC_000002.12:88735725:C:T p.(Ile195=) NC_000002.12:88735725:C:T p.(Ile195=) NC_000002.12:88735725:C:T Identity +NM_001354587.1:c.4707T>C NP_001341516.1:p.Tyr1569= NC_000002.12:97245371:T:C p.(Tyr1569=) NC_000002.12:97245371:T:C p.(Tyr1569=) NC_000002.12:97245371:T:C Identity +NM_001393939.1:c.2718G>A NP_001380868.1:p.Arg906= NC_000002.12:97513266:C:T p.(Arg906=) NC_000002.12:97513266:C:T p.(Arg906=) NC_000002.12:97513266:C:T Identity +NM_024093.3:c.477T>C NP_076998.1:p.Pro159= NC_000002.12:105343057:T:C p.(Pro159=) NC_000002.12:105343057:T:C p.(Pro159=) NC_000002.12:105343057:T:C Identity +NM_001305005.3:c.660G>A NP_001291934.1:p.Val220= NC_000002.12:108001958:G:A p.(Val220=) NC_000002.12:108001958:G:A p.(Val220=) NC_000002.12:108001958:G:A Identity +NM_001184937.2:c.24A>G NP_001171866.1:p.Thr8= NC_000002.12:120019107:A:G p.(Thr8=) NC_000002.12:120019107:A:G p.(Thr8=) NC_000002.12:120019107:A:G Identity +NM_001099771.2:c.2856C>T NP_001093241.1:p.Asn952= NC_000002.12:130074615:G:A p.(Asn952=) NC_000002.12:130074615:G:A p.(Asn952=) NC_000002.12:130074615:G:A Identity +NM_001018046.3:c.372T>C NP_001018056.1:p.Asn124= NC_000002.12:134998939:A:G p.(Asn124=) NC_000002.12:134998939:A:G p.(Asn124=) NC_000002.12:134998939:A:G Identity +NM_001378120.1:c.606A>G NP_001365049.1:p.Arg202= NC_000002.12:148468548:A:G p.(Arg202=) NC_000002.12:148468548:A:G p.(Arg202=) NC_000002.12:148468548:A:G Identity +NM_052905.4:c.2928G>T NP_443137.2:p.Arg976= NC_000002.12:152637655:G:T p.(Arg976=) NC_000002.12:152637655:G:T p.(Arg976=) NC_000002.12:152637655:G:T Identity +NM_001256850.1:c.76500T>C NP_001243779.1:p.Leu25500= NC_000002.12:178564708:A:G p.(Leu25500=) NC_000002.12:178564708:A:G p.(Leu25500=) NC_000002.12:178564708:A:G Identity +NM_001304840.3:c.3246A>G NP_001291769.1:p.Val1082= NC_000002.12:196220132:T:C p.(Val1082=) NC_000002.12:196220132:T:C p.(Val1082=) NC_000002.12:196220132:T:C Identity +NM_153689.6:c.204C>T NP_710156.3:p.Ser68= NC_000002.12:199911641:C:T p.(Ser68=) NC_000002.12:199911641:C:T p.(Ser68=) NC_000002.12:199911641:C:T Identity +NM_001168221.2:c.3624C>A NP_001161693.1:p.Ile1208= NC_000002.12:201492716:G:T p.(Ile1208=) NC_000002.12:201492716:G:T p.(Ile1208=) NC_000002.12:201492716:G:T Identity +NM_001326559.2:c.1920G>A NP_001313488.2:p.Pro640= NC_000002.12:219635362:G:A p.(Pro640=) NC_000002.12:219635362:G:A p.(Pro640=) NC_000002.12:219635362:G:A Identity +NM_001284214.2:c.5301C>A NP_001271143.1:p.Gly1767= NC_000002.12:229777461:G:T p.(Gly1767=) NC_000002.12:229777461:G:T p.(Gly1767=) NC_000002.12:229777461:G:T Identity +NM_001284214.2:c.4206G>A NP_001271143.1:p.Pro1402= NC_000002.12:229791993:C:T p.(Pro1402=) NC_000002.12:229791993:C:T p.(Pro1402=) NC_000002.12:229791993:C:T Identity +NM_001103146.3:c.3673_3684del NP_001096616.1:p.Pro1225_Gln1228del NC_000002.12:232847552:ACAGCAGCCACAACAGCAG:ACAGCAG p.(Pro1225_Gln1228del) NC_000002.12:232847552:ACAGCAGCCACAACAGCAG:ACAGCAG p.(Pro1225_Gln1228del) NC_000002.12:232847559:CCACAACAGCAG: Identity +NM_001137552.2:c.2103A>C NP_001131024.1:p.Ala701= NC_000002.12:237763815:A:C p.(Ala701=) NC_000002.12:237763815:A:C p.(Ala701=) NC_000002.12:237763815:A:C Identity +NM_001308370.2:c.345G>A NP_001295299.1:p.Ala115= NC_000002.12:238130162:G:A p.(Ala115=) NC_000002.12:238130162:G:A p.(Ala115=) NC_000002.12:238130162:G:A Identity +NM_001330290.2:c.1251G>A NP_001317219.1:p.Thr417= NC_000002.12:240771135:C:T p.(Thr417=) NC_000002.12:240771135:C:T p.(Thr417=) NC_000002.12:240771135:C:T Identity +NM_001254734.2:c.1812A>G NP_001241663.1:p.Leu604= NC_000020.11:2430578:A:G p.(Leu604=) NC_000020.11:2430578:A:G p.(Leu604=) NC_000020.11:2430578:A:G Identity +NM_001899.3:c.45G>A NP_001890.1:p.Leu15= NC_000020.11:23688924:C:T p.(Leu15=) NC_000020.11:23688924:C:T p.(Leu15=) NC_000020.11:23688924:C:T Identity +NM_001198989.2:c.822G>A NP_001185918.1:p.Leu274= NC_000020.11:35674590:C:T p.(Leu274=) NC_000020.11:35674590:C:T p.(Leu274=) NC_000020.11:35674590:C:T Identity +NM_001301860.2:c.2439C>T NP_001288789.1:p.Val813= NC_000020.11:41358745:C:T p.(Val813=) NC_000020.11:41358745:C:T p.(Val813=) NC_000020.11:41358745:C:T Identity +NM_002591.4:c.522G>C NP_002582.3:p.Thr174= NC_000020.11:57562810:G:C p.(Thr174=) NC_000020.11:57562810:G:C p.(Thr174=) NC_000020.11:57562810:G:C Identity +NM_001281483.2:c.969C>G NP_001268412.1:p.Gly323= NC_000020.11:63287755:C:G p.(Gly323=) NC_000020.11:63287755:C:G p.(Gly323=) NC_000020.11:63287755:C:G Identity +NM_001958.5:c.1194C>T NP_001949.1:p.Asp398= NC_000020.11:63488987:G:A p.(Asp398=) NC_000020.11:63488987:G:A p.(Asp398=) NC_000020.11:63488987:G:A Identity +NM_003489.4:c.1308C>G NP_003480.2:p.Ser436= NC_000021.9:14966884:G:C p.(Ser436=) NC_000021.9:14966884:G:C p.(Ser436=) NC_000021.9:14966884:G:C Identity +NM_001270407.2:c.498T>C NP_001257336.1:p.Asn166= NC_000021.9:25702177:T:C p.(Asn166=) NC_000021.9:25702177:T:C p.(Asn166=) NC_000021.9:25702177:T:C Identity +NM_001260474.2:c.1068C>T NP_001247403.1:p.Phe356= NC_000021.9:42850216:G:A p.(Phe356=) NC_000021.9:42850216:G:A p.(Phe356=) NC_000021.9:42850216:G:A Identity +NM_001001438.3:c.978C>T NP_001001438.1:p.Asp326= NC_000021.9:46215212:G:A p.(Asp326=) NC_000021.9:46215212:G:A p.(Asp326=) NC_000021.9:46215212:G:A Identity +NM_001242864.3:c.309C>T NP_001229793.1:p.Phe103= NC_000021.9:46644469:C:T p.(Phe103=) NC_000021.9:46644469:C:T p.(Phe103=) NC_000021.9:46644469:C:T Identity +NM_001257994.2:c.339T>C NP_001244923.1:p.Phe113= NC_000022.11:20116297:A:G p.(Phe113=) NC_000022.11:20116297:A:G p.(Phe113=) NC_000022.11:20116297:A:G Identity +NM_001362862.2:c.4278C>G NP_001349791.1:p.Pro1426= NC_000022.11:20729928:G:C p.(Pro1426=) NC_000022.11:20729928:G:C p.(Pro1426=) NC_000022.11:20729928:G:C Identity +NM_016449.4:c.621C>T NP_057533.2:p.His207= NC_000022.11:23614134:G:A p.(His207=) NC_000022.11:23614134:G:A p.(His207=) NC_000022.11:23614134:G:A Identity +NM_001145468.4:c.723C>T NP_001138940.4:p.Ser241= NC_000022.11:24321702:C:T p.(Ser241=) NC_000022.11:24321702:C:T p.(Ser241=) NC_000022.11:24321702:C:T Identity +NM_001039948.4:c.1602C>T NP_001035037.1:p.Pro534= NC_000022.11:24879467:C:T p.(Pro534=) NC_000022.11:24879467:C:T p.(Pro534=) NC_000022.11:24879467:C:T Identity +NM_002430.3:c.3357C>T NP_002421.3:p.Gly1119= NC_000022.11:27797186:G:A p.(Gly1119=) NC_000022.11:27797186:G:A p.(Gly1119=) NC_000022.11:27797186:G:A Identity +NM_001007467.3:c.1930C>T NP_001007468.1:p.Leu644= NC_000022.11:31604356:C:T p.(Leu644=) NC_000022.11:31604356:C:T p.(Leu644=) NC_000022.11:31604356:C:T Identity +NM_138435.4:c.54G>A NP_612444.2:p.Val18= NC_000022.11:39995095:G:A p.(Val18=) NC_000022.11:39995095:G:A p.(Val18=) NC_000022.11:39995095:G:A Identity +NM_001362843.2:c.6030A>G NP_001349772.1:p.Val2010= NC_000022.11:41177818:A:G p.(Val2010=) NC_000022.11:41177818:A:G p.(Val2010=) NC_000022.11:41177818:A:G Identity +NM_001378328.1:c.7638T>C NP_001365257.1:p.Phe2546= NC_000022.11:46373003:A:G p.(Phe2546=) NC_000022.11:46373003:A:G p.(Phe2546=) NC_000022.11:46373003:A:G Identity +NM_001378328.1:c.5958A>G NP_001365257.1:p.Gln1986= NC_000022.11:46394147:T:C p.(Gln1986=) NC_000022.11:46394147:T:C p.(Gln1986=) NC_000022.11:46394147:T:C Identity +NM_001378328.1:c.2295C>T NP_001365257.1:p.Ser765= NC_000022.11:46534875:G:A p.(Ser765=) NC_000022.11:46534875:G:A p.(Ser765=) NC_000022.11:46534875:G:A Identity +NM_001243723.2:c.810A>G NP_001230652.1:p.Pro270= NC_000003.12:4316417:A:G p.(Pro270=) NC_000003.12:4316417:A:G p.(Pro270=) NC_000003.12:4316417:A:G Identity +NM_001099952.4:c.6153T>C NP_001093422.2:p.Asn2051= NC_000003.12:4779554:T:C p.(Asn2051=) NC_000003.12:4779554:T:C p.(Asn2051=) NC_000003.12:4779554:T:C Identity +NM_001162499.2:c.2112C>T NP_001155971.1:p.Asn704= NC_000003.12:12817043:C:T p.(Asn704=) NC_000003.12:12817043:C:T p.(Asn704=) NC_000003.12:12817043:C:T Identity +NM_001131010.4:c.120A>G NP_001124482.1:p.Leu40= NC_000003.12:18420847:T:C p.(Leu40=) NC_000003.12:18420847:T:C p.(Leu40=) NC_000003.12:18420847:T:C Identity +NM_001330990.2:c.549C>T NP_001317919.1:p.Thr183= NC_000003.12:47841142:C:T p.(Thr183=) NC_000003.12:47841142:C:T p.(Thr183=) NC_000003.12:47841142:C:T Identity +NM_001171904.2:c.2217C>T NP_001165375.1:p.Ser739= NC_000003.12:51420749:G:A p.(Ser739=) NC_000003.12:51420749:G:A p.(Ser739=) NC_000003.12:51420749:G:A Identity +NM_015136.3:c.3294C>T NP_055951.2:p.Ser1098= NC_000003.12:52513739:C:T p.(Ser1098=) NC_000003.12:52513739:C:T p.(Ser1098=) NC_000003.12:52513739:C:T Identity +NM_000720.4:c.2580T>C NP_000711.1:p.Pro860= NC_000003.12:53732860:T:C p.(Pro860=) NC_000003.12:53732860:T:C p.(Pro860=) NC_000003.12:53732860:T:C Identity +NM_001164317.2:c.1143G>A NP_001157789.1:p.Thr381= NC_000003.12:58097972:G:A p.(Thr381=) NC_000003.12:58097972:G:A p.(Thr381=) NC_000003.12:58097972:G:A Identity +NM_001033057.2:c.2109G>A NP_001028229.1:p.Val703= NC_000003.12:65429577:C:T p.(Val703=) NC_000003.12:65429577:C:T p.(Val703=) NC_000003.12:65429577:C:T Identity +NM_001410778.1:c.1281G>A NP_001397707.1:p.Ala427= NC_000003.12:89342064:G:A p.(Ala427=) NC_000003.12:89342064:G:A p.(Ala427=) NC_000003.12:89342064:G:A Identity +NM_001319109.2:c.84G>A NP_001306038.1:p.Val28= NC_000003.12:113019563:C:T p.(Val28=) NC_000003.12:113019563:C:T p.(Val28=) NC_000003.12:113019563:C:T Identity +NM_001164496.2:c.3687G>A NP_001157968.1:p.Glu1229= NC_000003.12:113330596:C:T p.(Glu1229=) NC_000003.12:113330596:C:T p.(Glu1229=) NC_000003.12:113330596:C:T Identity +NM_001256486.2:c.8379C>T NP_001243415.1:p.Thr2793= NC_000003.12:121690984:G:A p.(Thr2793=) NC_000003.12:121690984:G:A p.(Thr2793=) NC_000003.12:121690984:G:A Identity +NM_016128.4:c.192G>A NP_057212.1:p.Thr64= NC_000003.12:129252642:G:A p.(Thr64=) NC_000003.12:129252642:G:A p.(Thr64=) NC_000003.12:129252642:G:A Identity +NM_001321193.3:c.327A>T NP_001308122.1:p.Ala109= NC_000003.12:177051603:T:A p.(Ala109=) NC_000003.12:177051603:T:A p.(Ala109=) NC_000003.12:177051603:T:A Identity +NM_001354571.2:c.807C>T NP_001341500.1:p.Val269= NC_000003.12:186620629:C:T p.(Val269=) NC_000003.12:186620629:C:T p.(Val269=) NC_000003.12:186620629:C:T Identity +NM_001322468.1:c.16719C>T NP_001309397.1:p.Thr5573= NC_000003.12:195779966:G:A p.(Thr5573=) NT_187532.1:152683:G:A p.(Thr5573=) NC_000003.12:152683:A:A Identity +NM_001322468.1:c.15546A>G NP_001309397.1:p.Ser5182= NC_000003.12:195780803:T:C p.(Ser5182=) NT_187532.1:153856:T:C p.(Ser5182=) NC_000003.12:153856:A:C Identity +NM_001322468.1:c.11883C>T NP_001309397.1:p.Thr3961= NC_000003.12:195783359:G:A p.(Thr3961=) NT_187532.1:157519:G:A p.(Thr3961=) NC_000003.12:157519:A:A Identity +NM_001322468.1:c.8094C>T NP_001309397.1:p.Asp2698= NC_000003.12:195786092:G:A p.(Asp2698=) NT_187532.1:161308:G:A p.(Asp2698=) NC_000003.12:161308:C:A Identity +NM_001322468.1:c.2070C>T NP_001309397.1:p.Asp690= NC_000003.12:195789524:G:A p.(Asp690=) NT_187532.1:167332:G:A p.(Asp690=) NC_000003.12:167332:A:A Identity +NM_001363577.2:c.957G>T NP_001350506.1:p.Val319= NC_000004.12:26430031:G:T p.(Val319=) NC_000004.12:26430031:G:T p.(Val319=) NC_000004.12:26430031:G:T Identity +NM_001144990.2:c.4188C>T NP_001138462.1:p.Asn1396= NC_000004.12:37446175:C:T p.(Asn1396=) NC_000004.12:37446175:C:T p.(Asn1396=) NC_000004.12:37446175:C:T Identity +NM_001318359.2:c.3615T>A NP_001305288.1:p.Ser1205= NC_000004.12:40121965:T:A p.(Ser1205=) NC_000004.12:40121965:T:A p.(Ser1205=) NC_000004.12:40121965:T:A Identity +NM_014243.3:c.2322G>T NP_055058.2:p.Ser774= NC_000004.12:72304018:C:A p.(Ser774=) NC_000004.12:72304018:C:A p.(Ser774=) NC_000004.12:72304018:C:A Identity +NM_014208.3:c.3507C>T NP_055023.2:p.Ser1169= NC_000004.12:87616168:C:T p.(Ser1169=) NC_000004.12:87616168:C:T p.(Ser1169=) NC_000004.12:87616168:C:T Identity +NM_000669.5:c.678C>T NP_000660.1:p.Asn226= NC_000004.12:99342944:G:A p.(Asn226=) NC_000004.12:99342944:G:A p.(Asn226=) NC_000004.12:99342944:G:A Identity +NM_001083.4:c.2010T>C NP_001074.2:p.His670= NC_000004.12:119511124:A:G p.(His670=) NC_000004.12:119511124:A:G p.(His670=) NC_000004.12:119511124:A:G Identity +NM_001276457.2:c.1128A>G NP_001263386.1:p.Thr376= NC_000004.12:139059369:T:C p.(Thr376=) NC_000004.12:139059369:T:C p.(Thr376=) NC_000004.12:139059369:T:C Identity +NM_001040260.4:c.63G>C NP_001035350.2:p.Pro21= NC_000004.12:150079089:G:C p.(Pro21=) NC_000004.12:150079089:G:C p.(Pro21=) NC_000004.12:150079089:G:C Identity +NM_001873.4:c.417C>T NP_001864.1:p.Asn139= NC_000004.12:165464498:C:T p.(Asn139=) NC_000004.12:165464498:C:T p.(Asn139=) NC_000004.12:165464498:C:T Identity +NM_001377236.1:c.414G>A NP_001364165.1:p.Thr138= NC_000005.10:413405:G:A p.(Thr138=) NC_000005.10:413405:G:A p.(Thr138=) NC_000005.10:413405:G:A Identity +NM_139056.4:c.1071C>T NP_620687.2:p.His357= NC_000005.10:5189993:C:T p.(His357=) NC_000005.10:5189993:C:T p.(His357=) NC_000005.10:5189993:C:T Identity +NM_007118.4:c.6069C>T NP_009049.2:p.Tyr2023= NC_000005.10:14474082:C:T p.(Tyr2023=) NC_000005.10:14474082:C:T p.(Tyr2023=) NC_000005.10:14474082:C:T Identity +NM_007118.4:c.8559C>T NP_009049.2:p.Val2853= NC_000005.10:14504539:C:T p.(Val2853=) NC_000005.10:14504539:C:T p.(Val2853=) NC_000005.10:14504539:C:T Identity +NM_054027.6:c.384G>A NP_473368.1:p.Thr128= NC_000005.10:14758527:C:T p.(Thr128=) NC_000005.10:14758527:C:T p.(Thr128=) NC_000005.10:14758527:C:T Identity +NM_022130.4:c.741C>T NP_071413.1:p.Asp247= NC_000005.10:32126367:G:A p.(Asp247=) NC_000005.10:32126367:G:A p.(Asp247=) NC_000005.10:32126367:G:A Identity +NM_024867.4:c.988C>A NP_079143.3:p.Arg330= NC_000005.10:35659027:C:A p.(Arg330=) NC_000005.10:35659027:C:A p.(Arg330=) NC_000005.10:35659027:C:A Identity +NM_015384.5:c.4536T>C NP_056199.2:p.Asn1512= NC_000005.10:37010200:T:C p.(Asn1512=) NC_000005.10:37010200:T:C p.(Asn1512=) NC_000005.10:37010200:T:C Identity +NM_001376049.1:c.843T>C NP_001362978.1:p.Tyr281= NC_000005.10:74804561:A:G p.(Tyr281=) NC_000005.10:74804561:A:G p.(Tyr281=) NC_000005.10:74804561:A:G Identity +NM_018900.4:c.1761G>C NP_061723.1:p.Ala587= NC_000005.10:140788050:G:C p.(Ala587=) NC_000005.10:140788050:G:C p.(Ala587=) NC_000005.10:140788050:G:C Identity +NM_018901.4:c.2220T>C NP_061724.1:p.Ser740= NC_000005.10:140858267:T:C p.(Ser740=) NC_000005.10:140858267:T:C p.(Ser740=) NC_000005.10:140858267:T:C Identity +NM_018898.5:c.1671T>C NP_061721.2:p.Phe557= NC_000005.10:140928562:T:C p.(Phe557=) NC_000005.10:140928562:T:C p.(Phe557=) NC_000005.10:140928562:T:C Identity +NM_018934.4:c.846C>T NP_061757.1:p.Phe282= NC_000005.10:141224350:C:T p.(Phe282=) NC_000005.10:141224350:C:T p.(Phe282=) NC_000005.10:141224350:C:T Identity +NM_001040006.2:c.642G>A NP_001035095.1:p.Gln214= NC_000005.10:146459086:G:A p.(Gln214=) NC_000005.10:146459086:G:A p.(Gln214=) NC_000005.10:146459086:G:A Identity +NM_000440.3:c.114G>C NP_000431.2:p.Gly38= NC_000005.10:149944559:C:G p.(Gly38=) NC_000005.10:149944559:C:G p.(Gly38=) NC_000005.10:149944559:C:G Identity +NM_000356.4:c.2721G>T NP_000347.2:p.Pro907= NC_000005.10:150387993:G:T p.(Pro907=) NC_000005.10:150387993:G:T p.(Pro907=) NC_000005.10:150387993:G:T Identity +NM_000356.4:c.4020A>G NP_000347.2:p.Pro1340= NC_000005.10:150396750:A:G p.(Pro1340=) NC_000005.10:150396750:A:G p.(Pro1340=) NC_000005.10:150396750:A:G Identity +NM_001173393.3:c.555A>G NP_001166864.1:p.Ser185= NC_000005.10:157052478:T:C p.(Ser185=) NC_000005.10:157052478:T:C p.(Ser185=) NC_000005.10:157052478:T:C Identity +NM_001080428.3:c.3621C>A NP_001073897.2:p.Val1207= NC_000005.10:168218228:C:A p.(Val1207=) NC_000005.10:168218228:C:A p.(Val1207=) NC_000005.10:168218228:C:A Identity +NM_001271946.2:c.855G>A NP_001258875.2:p.Thr285= NC_000005.10:168806525:C:T p.(Thr285=) NC_000005.10:168806525:C:T p.(Thr285=) NC_000005.10:168806525:C:T Identity +NM_001365684.2:c.2319T>C NP_001352613.2:p.Leu773= NC_000005.10:177211590:T:C p.(Leu773=) NC_000005.10:177211590:T:C p.(Leu773=) NC_000005.10:177211590:T:C Identity +NM_018303.6:c.33C>T NP_060773.3:p.Thr11= NC_000006.12:637785:G:A p.(Thr11=) NC_000006.12:637785:G:A p.(Thr11=) NC_000006.12:637785:G:A Identity +NM_003913.5:c.1464C>T NP_003904.3:p.Arg488= NC_000006.12:4040822:C:T p.(Arg488=) NC_000006.12:4040822:C:T p.(Arg488=) NC_000006.12:4040822:C:T Identity +NM_001003698.4:c.1806C>T NP_001003698.1:p.Ile602= NC_000006.12:7229904:C:T p.(Ile602=) NC_000006.12:7229904:C:T p.(Ile602=) NC_000006.12:7229904:C:T Identity +NM_002114.4:c.15A>G NP_002105.3:p.Lys5= NC_000006.12:12015642:A:G p.(Lys5=) NC_000006.12:12015642:A:G p.(Lys5=) NC_000006.12:12015642:A:G Identity +NM_001242648.4:c.201C>T NP_001229577.1:p.Ser67= NC_000006.12:12749740:C:T p.(Ser67=) NC_000006.12:12749740:C:T p.(Ser67=) NC_000006.12:12749740:C:T Identity +NM_003107.3:c.496_507del NP_003098.1:p.His166_Gly169del NC_000006.12:21595020:GGGGGCGGCCATGGGGGCGGC:GGGGGCGGC p.(His166_Gly169del) NC_000006.12:21595020:GGGGGCGGCCATGGGGGCGGC:GGGGGCGGC p.(His166_Gly169del) NC_000006.12:21595029:CATGGGGGCGGC: Identity +NM_003107.3:c.1002C>G NP_003098.1:p.Pro334= NC_000006.12:21595535:C:G p.(Pro334=) NC_000006.12:21595535:C:G p.(Pro334=) NC_000006.12:21595535:C:G Identity +NM_005325.4:c.603G>A NP_005316.1:p.Lys201= NC_000006.12:26017129:C:T p.(Lys201=) NC_000006.12:26017129:C:T p.(Lys201=) NC_000006.12:26017129:C:T Identity +NM_001010909.5:c.1176C>T NP_001010909.2:p.Thr392= NC_000006.12:30987350:C:T p.(Thr392=) NC_000006.12:30987350:C:T p.(Thr392=) NC_000006.12:30987350:C:T Identity +NM_004638.4:c.3582C>G NP_004629.3:p.Pro1194= NC_000006.12:31632254:C:G p.(Pro1194=) NC_000006.12:31632254:C:G p.(Pro1194=) NC_000006.12:31632254:C:G Identity +NM_006295.3:c.3336A>G NP_006286.1:p.Leu1112= NC_000006.12:31779488:T:C p.(Leu1112=) NC_000006.12:31779488:T:C p.(Leu1112=) NC_000006.12:31779488:T:C Identity +NM_004557.4:c.18GCT[5] NP_004548.3:p.Leu12_Leu16del NC_000006.12:32223881:AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:AGCAGCAGCAGCAGCAG p.(Leu12_Leu16del) NC_000006.12:32223910:C:AGCAGCAGCAGCAGC ERR:Parse ERR:Parse Identity +NM_002122.5:c.366C>T NP_002113.2:p.Pro122= NC_000006.12:32642005:C:T p.(Pro122=) NC_000006.12:32642005:C:T p.(Pro122=) NC_000006.12:32642005:C:T Identity +NM_001242589.3:c.216G>A NP_001229518.1:p.Arg72= NC_000006.12:41282584:C:T p.(Arg72=) NC_000006.12:41282584:C:T p.(Arg72=) NC_000006.12:41282584:C:T Identity +NM_002098.6:c.195C>T NP_002089.4:p.Phe65= NC_000006.12:42194625:G:A p.(Phe65=) NC_000006.12:42194625:G:A p.(Phe65=) NC_000006.12:42194625:G:A Identity +NM_001010872.3:c.1998G>A NP_001010872.1:p.Pro666= NC_000006.12:54940968:G:A p.(Pro666=) NC_000006.12:54940968:G:A p.(Pro666=) NC_000006.12:54940968:G:A Identity +NM_001242809.2:c.546G>A NP_001229738.1:p.Ala182= NC_000006.12:89613820:G:A p.(Ala182=) NC_000006.12:89613820:G:A p.(Ala182=) NC_000006.12:89613820:G:A Identity +NM_001080481.3:c.627A>G NP_001073950.1:p.Ala209= NC_000006.12:99488286:T:C p.(Ala209=) NC_000006.12:99488286:T:C p.(Ala209=) NC_000006.12:99488286:T:C Identity +NM_001145128.3:c.741A>G NP_001138600.2:p.Thr247= NC_000006.12:109656773:T:C p.(Thr247=) NC_000006.12:109656773:T:C p.(Thr247=) NC_000006.12:109656773:T:C Identity +NM_014845.6:c.858A>G NP_055660.1:p.Lys286= NC_000006.12:109741525:A:G p.(Lys286=) NC_000006.12:109741525:A:G p.(Lys286=) NC_000006.12:109741525:A:G Identity +NM_014702.5:c.306A>G NP_055517.3:p.Arg102= NC_000006.12:127450181:T:C p.(Arg102=) NC_000006.12:127450181:T:C p.(Arg102=) NC_000006.12:127450181:T:C Identity +NM_001346813.1:c.1029C>G NP_001333742.1:p.Ala343= NC_000006.12:156778957:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001346813.1:c.1527C>G NP_001333742.1:p.Thr509= NC_000006.12:156779455:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000876.4:c.2190C>G NP_000867.3:p.Leu730= NC_000006.12:160047296:C:G p.(Leu730=) NC_000006.12:160047296:C:G p.(Leu730=) NC_000006.12:160047296:C:G Identity +NM_001080453.3:c.1407C>T NP_001073922.2:p.Ser469= NC_000007.14:1498429:G:A p.(Ser469=) NC_000007.14:1498429:G:A p.(Ser469=) NC_000007.14:1498429:G:A Identity +NM_001080495.3:c.2952C>T NP_001073964.2:p.Gly984= NC_000007.14:5374331:G:A p.(Gly984=) NC_000007.14:5374331:G:A p.(Gly984=) NC_000007.14:5374331:G:A Identity +NM_138295.5:c.2037G>T NP_612152.1:p.Val679= NC_000007.14:47902405:C:A p.(Val679=) NC_000007.14:47902405:C:A p.(Val679=) NC_000007.14:47902405:C:A Identity +NM_201284.2:c.2079T>G NP_958441.1:p.Pro693= NC_000007.14:55170504:T:G p.(Pro693=) NC_000007.14:55170504:T:G p.(Pro693=) NC_000007.14:55170504:T:G Identity +NM_001099415.3:c.2340G>A NP_001092885.2:p.Thr780= NC_000007.14:75421911:C:T p.(Thr780=) NC_000007.14:75421911:C:T p.(Thr780=) NC_000007.14:75421911:C:T Identity +NM_005960.2:c.1095T>C NP_005951.1:p.Thr365= NC_000007.14:100952873:T:C p.(Thr365=) NC_000007.14:100952873:T:C p.(Thr365=) NC_000007.14:100952873:T:C Identity +NM_001164462.2:c.1467C>G NP_001157934.1:p.Leu489= NC_000007.14:100992029:C:G p.(Leu489=) NC_000007.14:100992029:C:G p.(Leu489=) NC_000007.14:100992029:C:G Identity +NM_001393919.1:c.93T>C NP_001380848.1:p.Cys31= NC_000007.14:102476230:A:G p.(Cys31=) NC_000007.14:102476230:A:G p.(Cys31=) NC_000007.14:102476230:A:G Identity +NM_005045.4:c.8892T>G NP_005036.2:p.Ser2964= NC_000007.14:103497877:A:C p.(Ser2964=) NC_000007.14:103497877:A:C p.(Ser2964=) NC_000007.14:103497877:A:C Identity +NM_001301161.2:c.375T>C NP_001288090.1:p.Ser125= NC_000007.14:105996279:T:C p.(Ser125=) NC_000007.14:105996279:T:C p.(Ser125=) NC_000007.14:105996279:T:C Identity +NM_001080413.3:c.414A>C NP_001073882.3:p.Ser138= NC_000007.14:144401475:T:G p.(Ser138=) NC_000007.14:144401475:T:G p.(Ser138=) NC_000007.14:144401475:T:G Identity +NM_003970.4:c.3258G>A NP_003961.3:p.Gly1086= NC_000008.11:2116036:G:A p.(Gly1086=) NC_000008.11:2116036:G:A p.(Gly1086=) NC_000008.11:2116036:G:A Identity +NM_001080826.3:c.1725T>C NP_001074295.2:p.Asp575= NC_000008.11:8376683:A:G p.(Asp575=) NC_000008.11:8376683:A:G p.(Asp575=) NC_000008.11:8376683:A:G Identity +NM_001354635.2:c.267A>G NP_001341564.1:p.Glu89= NC_000008.11:9016323:A:G p.(Glu89=) NC_000008.11:9016323:A:G p.(Glu89=) NC_000008.11:9016323:A:G Identity +NM_001350162.2:c.5209T>C NP_001337091.1:p.Leu1737= NC_000008.11:30844957:A:G p.(Leu1737=) NC_000008.11:30844957:A:G p.(Leu1737=) NC_000008.11:30844957:A:G Identity +NM_001320313.2:c.552A>G NP_001307242.1:p.Gln184= NC_000008.11:39629402:A:G p.(Gln184=) NC_000008.11:39629402:A:G p.(Gln184=) NC_000008.11:39629402:A:G Identity +NM_001413184.1:c.3474G>A NP_001400113.1:p.Thr1158= NC_000008.11:67228079:C:T p.(Thr1158=) NC_000008.11:67228079:C:T p.(Thr1158=) NC_000008.11:67228079:C:T Identity +NM_001416022.1:c.96C>G NP_001402951.1:p.Gly32= NC_000008.11:91071150:C:G p.(Gly32=) NC_000008.11:91071150:C:G p.(Gly32=) NC_000008.11:91071150:C:G Identity +NM_001129890.2:c.501C>T NP_001123362.1:p.Cys167= NC_000008.11:91133226:C:T p.(Cys167=) NC_000008.11:91133226:C:T p.(Cys167=) NC_000008.11:91133226:C:T Identity +NM_033512.3:c.819A>G NP_277047.2:p.Val273= NC_000008.11:97277025:T:C p.(Val273=) NC_000008.11:97277025:T:C p.(Val273=) NC_000008.11:97277025:T:C Identity +NM_002568.4:c.1893C>T NP_002559.2:p.Thr631= NC_000008.11:100704315:G:A p.(Thr631=) NC_000008.11:100704315:G:A p.(Thr631=) NC_000008.11:100704315:G:A Identity +NM_001282873.2:c.7686C>G NP_001269802.1:p.Val2562= NC_000008.11:102262067:G:C p.(Val2562=) NC_000008.11:102262067:G:C p.(Val2562=) NC_000008.11:102262067:G:C Identity +NM_194291.3:c.144G>A NP_919267.2:p.Pro48= NC_000008.11:124372013:C:T p.(Pro48=) NC_000008.11:124372013:C:T p.(Pro48=) NC_000008.11:124372013:C:T Identity +NM_001282971.2:c.888G>A NP_001269900.1:p.Ser296= NC_000008.11:124562940:C:T p.(Ser296=) NC_000008.11:124562940:C:T p.(Ser296=) NC_000008.11:124562940:C:T Identity +NM_001323553.2:c.2265T>C NP_001310482.1:p.Ser755= NC_000008.11:132010801:T:C p.(Ser755=) NC_000008.11:132010801:T:C p.(Ser755=) NC_000008.11:132010801:T:C Identity +NM_001145095.3:c.1080C>T NP_001138567.1:p.Thr360= NC_000008.11:132077816:G:A p.(Thr360=) NC_000008.11:132077816:G:A p.(Thr360=) NC_000008.11:132077816:G:A Identity +NM_198488.5:c.1923G>A NP_940890.4:p.Pro641= NC_000008.11:143727537:C:T p.(Pro641=) NC_000008.11:143727537:C:T p.(Pro641=) NC_000008.11:143727537:C:T Identity +NM_015356.5:c.3129G>A NP_056171.3:p.Pro1043= NC_000008.11:143803931:C:T p.(Pro1043=) NC_000008.11:143803931:C:T p.(Pro1043=) NC_000008.11:143803931:C:T Identity +NM_000445.5:c.9408C>T NP_000436.2:p.Tyr3136= NC_000008.11:143920493:G:A p.(Tyr3136=) NC_000008.11:143920493:G:A p.(Tyr3136=) NC_000008.11:143920493:G:A Identity +NM_001146695.4:c.579C>T NP_001140167.1:p.Asp193= NC_000009.12:6849649:C:T p.(Asp193=) NC_000009.12:6849649:C:T p.(Asp193=) NC_000009.12:6849649:C:T Identity +NM_001377958.1:c.1980C>T NP_001364887.1:p.His660= NC_000009.12:8500901:G:A p.(His660=) NC_000009.12:8500901:G:A p.(His660=) NC_000009.12:8500901:G:A Identity +NM_001261406.2:c.5724A>G NP_001248335.1:p.Glu1908= NC_000009.12:13110641:T:C p.(Glu1908=) NC_000009.12:13110641:T:C p.(Glu1908=) NC_000009.12:13110641:T:C Identity +NM_001010940.3:c.471A>C NP_001010940.1:p.Ser157= NC_000009.12:69886858:A:C p.(Ser157=) NC_000009.12:69886858:A:C p.(Ser157=) NC_000009.12:69886858:A:C Identity +NM_001308047.2:c.1041C>T NP_001294976.1:p.Leu347= NC_000009.12:76711232:G:A p.(Leu347=) NC_000009.12:76711232:G:A p.(Leu347=) NC_000009.12:76711232:G:A Identity +NM_001083536.2:c.2118G>A NP_001077005.1:p.Thr706= NC_000009.12:93035528:G:A p.(Thr706=) NC_000009.12:93035528:G:A p.(Thr706=) NC_000009.12:93035528:G:A Identity +NM_021224.6:c.4389C>T NP_067047.4:p.Pro1463= NC_000009.12:106928300:C:T p.(Pro1463=) NC_000009.12:106928300:C:T p.(Pro1463=) NC_000009.12:106928300:C:T Identity +NM_130459.4:c.753G>A NP_569726.2:p.Pro251= NC_000009.12:127733224:C:T p.(Pro251=) NC_000009.12:127733224:C:T p.(Pro251=) NC_000009.12:127733224:C:T Identity +NM_001131015.2:c.2427C>G NP_001124487.1:p.Arg809= NC_000009.12:128166298:G:C p.(Arg809=) NC_000009.12:128166298:G:C p.(Arg809=) NC_000009.12:128166298:G:C Identity +NM_001242352.2:c.1929G>A NP_001229281.1:p.Ala643= NC_000009.12:128496072:G:A p.(Ala643=) NC_000009.12:128496072:G:A p.(Ala643=) NC_000009.12:128496072:G:A Identity +NM_001130438.3:c.807T>C NP_001123910.1:p.Ser269= NC_000009.12:128577149:T:C p.(Ser269=) NC_000009.12:128577149:T:C p.(Ser269=) NC_000009.12:128577149:T:C Identity +NM_015354.3:c.5215T>C NP_056169.1:p.Leu1739= NC_000009.12:129006642:T:C p.(Leu1739=) NC_000009.12:129006642:T:C p.(Leu1739=) NC_000009.12:129006642:T:C Identity +NM_001291815.2:c.4989G>A NP_001278744.1:p.Glu1663= NC_000009.12:130354886:G:A p.(Glu1663=) NC_000009.12:130354886:G:A p.(Glu1663=) NC_000009.12:130354886:G:A Identity +NM_001384818.1:c.1506G>A NP_001371747.1:p.Ala502= NC_000009.12:131464863:G:A p.(Ala502=) NC_000009.12:131464863:G:A p.(Ala502=) NC_000009.12:131464863:G:A Identity +NM_001807.6:c.1938C>T NP_001798.3:p.Pro646= NC_000009.12:133071439:C:T p.(Pro646=) NC_000009.12:133071439:C:T p.(Pro646=) NC_000009.12:133071439:C:T Identity +NM_001411031.1:c.870C>T NP_001397960.1:p.Gly290= NC_000009.12:135822956:G:A p.(Gly290=) NC_000009.12:135822956:G:A p.(Gly290=) NC_000009.12:135822956:G:A Identity +NM_017820.5:c.669G>A NP_060290.3:p.Glu223= NC_000009.12:137356355:C:T p.(Glu223=) NC_000009.12:137356355:C:T p.(Glu223=) NC_000009.12:137356355:C:T Identity +NM_001201538.2:c.600C>T NP_001188467.1:p.Ile200= NC_000023.11:3084435:C:T p.(Ile200=) NC_000023.11:3084435:C:T p.(Ile200=) NC_000023.11:3084435:C:T Identity +NM_205849.3:c.6G>T NP_995321.1:p.Ala2= NC_000023.11:9032980:C:A p.(Ala2=) NC_000023.11:9032980:C:A p.(Ala2=) NC_000023.11:9032980:C:A Identity +NM_015691.5:c.966G>C NP_056506.3:p.Val322= NC_000023.11:10094214:G:C ERR:TranscriptMismatch:expected G, found T at transcript indices 1290..1291 NC_000023.11:10094217:T:C ERR:NM_015691.5:c.966G>C: Variant reference (G) does not agree with reference sequence (T) ERR:NM_015691.5:c.966G>C: Variant reference (G) does not agree with reference sequence (T) Unknown +NM_015691.5:c.1944C>T NP_056506.3:p.Pro648= NC_000023.11:10117627:C:T ERR:TranscriptMismatch:expected C, found G at transcript indices 2268..2269 NC_000023.11:10117630:G:T ERR:NM_015691.5:c.1944C>T: Variant reference (C) does not agree with reference sequence (G) ERR:NM_015691.5:c.1944C>T: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_015691.5:c.2415G>A NP_056506.3:p.Ala805= NC_000023.11:10126239:G:A p.(Leu805=) NC_000023.11:10126242:G:A p.(Leu805=) NC_000023.11:10126242:G:A Analogous +NM_001142.2:c.126C>T NP_001133.1:p.Tyr42= NC_000023.11:11298258:C:T p.(Tyr42=) NC_000023.11:11298258:C:T p.(Tyr42=) NC_000023.11:11298258:C:T Identity +NM_015884.4:c.339T>C NP_056968.1:p.Tyr113= NC_000023.11:21845284:T:C p.(Tyr113=) NC_000023.11:21845284:T:C p.(Tyr113=) NC_000023.11:21845284:T:C Identity +NM_015884.4:c.933T>C NP_056968.1:p.Ser311= NC_000023.11:21869640:T:C p.(Ser311=) NC_000023.11:21869640:T:C p.(Ser311=) NC_000023.11:21869640:T:C Identity +NM_001170331.2:c.504C>T NP_001163802.1:p.Asp168= NC_000023.11:37572373:C:T p.(Asp168=) NC_000023.11:37572373:C:T p.(Asp168=) NC_000023.11:37572373:C:T Identity +NM_001282142.2:c.159T>G NP_001269071.1:p.Ser53= NC_000023.11:49039166:A:C p.(Ser53=) NC_000023.11:49039166:A:C p.(Ser53=) NC_000023.11:49039166:A:C Identity +NM_001355277.1:c.324G>A NP_001342206.1:p.Lys108= NC_000023.11:51710834:G:A p.(Lys108=) NC_000023.11:51710834:G:A p.(Lys108=) NC_000023.11:51710834:G:A Identity +NM_001005332.2:c.1035A>G NP_001005332.1:p.Pro345= NC_000023.11:51896689:A:G p.(Pro345=) NC_000023.11:51896689:A:G p.(Pro345=) NC_000023.11:51896689:A:G Identity +NM_001111125.3:c.1455G>C NP_001104595.1:p.Gly485= NC_000023.11:53251120:C:G p.(Gly485=) NC_000023.11:53251120:C:G p.(Gly485=) NC_000023.11:53251120:C:G Identity +NM_001002838.4:c.3681G>A NP_001002838.1:p.Gly1227= NC_000023.11:54239069:C:T p.(Gly1227=) NC_000023.11:54239069:C:T p.(Gly1227=) NC_000023.11:54239069:C:T Identity +NM_013444.4:c.144G>A NP_038472.2:p.Val48= NC_000023.11:56564016:G:A p.(Val48=) NC_000023.11:56564016:G:A p.(Val48=) NC_000023.11:56564016:G:A Identity +NM_000044.6:c.1365T>C NP_000035.2:p.Gly455= NC_000023.11:67546510:T:C p.(Gly455=) NC_000023.11:67546510:T:C p.(Gly455=) NC_000023.11:67546510:T:C Identity +NM_001142503.3:c.1466_1483del NP_001135975.1:p.485PA[2] NC_000023.11:68718362:GGCCCCGGCCCCAGCCCCGGCCCCGGCCCCAGCCC:GGCCCCGGCCCCAGCCC p.(Pro489_Ala494del) NC_000023.11:68718362:GGCCCCGGCCCCAGCCCCGGCCCCGGCCCCAGCCC:GGCCCCGGCCCCAGCCC p.(Pro489_Ala494del) NC_000023.11:68718379:CGGCCCCGGCCCCAGCCC: Analogous +NM_001171191.2:c.474C>T NP_001164662.1:p.Pro158= NC_000023.11:70427144:C:T p.(Pro158=) NC_000023.11:70427144:C:T p.(Pro158=) NC_000023.11:70427144:C:T Identity +NM_001039840.4:c.162_176del NP_001034929.2:p.Glu64_Glu68del NC_000023.11:73563434:GAGGAGGAAGAGGAGGAGGAGGAAGA:GAGGAGGAAGA p.(Glu64_Glu68del) NC_000023.11:73563434:GAGGAGGAAGAGGAGGAGGAGGAAGA:GAGGAGGAAGA p.(Glu64_Glu68del) NC_000023.11:73563445:GGAGGAGGAGGAAGA: Identity +NM_001168360.1:c.3891C>T NP_001161832.1:p.Tyr1297= NC_000023.11:92618810:C:T p.(Tyr1297=) NC_000023.11:92618810:C:T p.(Tyr1297=) NC_000023.11:92618810:C:T Identity +NM_153448.4:c.234C>T NP_703149.1:p.Gly78= NC_000023.11:104254425:G:A p.(Gly78=) NC_000023.11:104254425:G:A p.(Gly78=) NC_000023.11:104254425:G:A Identity +NM_017752.3:c.576G>A NP_060222.2:p.Leu192= NC_000023.11:106822191:G:A p.(Leu192=) NC_000023.11:106822191:G:A p.(Leu192=) NC_000023.11:106822191:G:A Identity +NM_001312891.2:c.444T>C NP_001299820.1:p.Tyr148= NC_000023.11:118825687:T:C p.(Tyr148=) NC_000023.11:118825687:T:C p.(Tyr148=) NC_000023.11:118825687:T:C Identity +NM_024528.4:c.741G>A NP_078804.2:p.Lys247= NC_000023.11:119932212:C:T p.(Lys247=) NC_000023.11:119932212:C:T p.(Lys247=) NC_000023.11:119932212:C:T Identity +NM_001166221.2:c.69A>G NP_001159693.1:p.Pro23= NC_000023.11:129907408:A:G p.(Pro23=) NC_000023.11:129907408:A:G p.(Pro23=) NC_000023.11:129907408:A:G Identity +NM_001184772.3:c.3570C>T NP_001171701.1:p.Ser1190= NC_000023.11:130021112:C:T p.(Ser1190=) NC_000023.11:130021112:C:T p.(Ser1190=) NC_000023.11:130021112:C:T Identity +NM_001184772.3:c.3882C>T NP_001171701.1:p.His1294= NC_000023.11:130025182:C:T p.(His1294=) NC_000023.11:130025182:C:T p.(His1294=) NC_000023.11:130025182:C:T Identity +NM_001077188.2:c.237G>A NP_001070656.1:p.Ala79= NC_000023.11:132958365:C:T p.(Ala79=) NC_000023.11:132958365:C:T p.(Ala79=) NC_000023.11:132958365:C:T Identity +NM_001101357.3:c.198T>C NP_001094827.1:p.Tyr66= NC_000023.11:134244997:T:C p.(Tyr66=) NC_000023.11:134244997:T:C p.(Tyr66=) NC_000023.11:134244997:T:C Identity +NM_001042537.2:c.1545T>C NP_001036002.1:p.Leu515= NC_000023.11:136024411:T:C p.(Leu515=) NC_000023.11:136024411:T:C p.(Leu515=) NC_000023.11:136024411:T:C Identity +NM_001144003.3:c.1674C>T NP_001137475.1:p.Cys558= NC_000023.11:145824098:C:T p.(Cys558=) NC_000023.11:145824098:C:T p.(Cys558=) NC_000023.11:145824098:C:T Identity +NM_173493.3:c.1731C>T NP_775764.2:p.Ile577= NC_000023.11:151672475:C:T p.(Ile577=) NC_000023.11:151672475:C:T p.(Ile577=) NC_000023.11:151672475:C:T Identity +NM_007205.3:c.624G>A NP_009136.1:p.Leu208= NC_000023.11:153444806:C:T ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007205.3 not found +NM_001170760.2:c.1602C>T NP_001164231.1:p.Ala534= NC_000023.11:153785420:C:T p.(Ala534=) NC_000023.11:153785420:C:T p.(Ala534=) NC_000023.11:153785420:C:T Identity +NM_001410705.1:c.627C>T NP_001397634.1:p.Thr209= NC_000023.11:153963309:G:A p.(Thr209=) NC_000023.11:153963309:G:A p.(Thr209=) NC_000023.11:153963309:G:A Identity +NM_001025242.2:c.1128C>T NP_001020413.1:p.Ser376= NC_000023.11:154016544:G:A p.(Ser376=) NC_000023.11:154016544:G:A p.(Ser376=) NC_000023.11:154016544:G:A Identity +NM_017514.5:c.3571C>A NP_059984.3:p.Arg1191= NC_000023.11:154467673:C:A p.(Arg1191=) NC_000023.11:154467673:C:A p.(Arg1191=) NC_000023.11:154467673:C:A Identity +NM_020994.5:c.9C>T NP_066274.2:p.Ala3= NC_000023.11:154653506:G:A p.(Ala3=) NC_000023.11:154653506:G:A p.(Ala3=) NC_000023.11:154653506:G:A Identity +NM_001142463.3:c.438A>G NP_001135935.1:p.Gln146= NC_000023.11:154766389:A:G p.(Gln146=) NC_000023.11:154766389:A:G p.(Gln146=) NC_000023.11:154766389:A:G Identity +NM_001303543.1:c.180G>T NP_001290472.1:p.Gly60= NC_000023.11:155216553:G:T p.(Gly60=) NC_000023.11:155216553:G:T p.(Gly60=) NC_000023.11:155216553:G:T Identity +NM_004654.4:c.4030A>C NP_004645.2:p.Arg1344= NC_000024.10:12810224:A:C p.(Arg1344=) NC_000024.10:12810224:A:C p.(Arg1344=) NC_000024.10:12810224:A:C Identity +NM_001042681.2:c.2808C>A NP_001036146.1:p.Ile936= NC_000001.11:8360698:G:T p.(Ile936=) NC_000001.11:8360698:G:T p.(Ile936=) NC_000001.11:8360698:G:T Identity +NM_001396855.1:c.732A>G NP_001383784.1:p.Lys244= NC_000001.11:156595593:T:C p.(Lys244=) NW_025791758.1:154152:T:C p.(Lys244=) NC_000001.11:154152:T:C Identity +NM_001199378.2:c.5172C>T NP_001186307.1:p.Pro1724= NC_000010.11:102381136:C:T p.(Pro1724=) NC_000010.11:102381136:C:T p.(Pro1724=) NC_000010.11:102381136:C:T Identity +NM_006248.4:c.822T>C NP_006239.3:p.Pro274= NC_000012.12:11393255:A:G p.(Pro274=) NC_000012.12:11393255:A:G p.(Pro274=) NC_000012.12:11393255:A:G Identity +NM_001145475.3:c.4723C>T NP_001138947.1:p.Leu1575= NC_000012.12:50352108:G:A p.(Leu1575=) NC_000012.12:50352108:G:A p.(Leu1575=) NC_000012.12:50352108:G:A Identity +NM_000875.5:c.2403C>T NP_000866.1:p.Ile801= NC_000015.10:98922348:C:T p.(Ile801=) NC_000015.10:98922348:C:T p.(Ile801=) NC_000015.10:98922348:C:T Identity +NM_012232.6:c.126G>A NP_036364.2:p.Glu42= NC_000017.11:42422971:C:T p.(Glu42=) NC_000017.11:42422971:C:T p.(Glu42=) NC_000017.11:42422971:C:T Identity +NM_030957.4:c.1005T>G NP_112219.3:p.Gly335= NC_000019.10:8597021:A:C p.(Gly335=) NC_000019.10:8597021:A:C p.(Gly335=) NC_000019.10:8597021:A:C Identity +NM_001394372.1:c.1632C>T NP_001381301.1:p.Ala544= NC_000019.10:47680801:C:T p.(Ala544=) NC_000019.10:47680801:C:T p.(Ala544=) NC_000019.10:47680801:C:T Identity +NM_001363864.1:c.987G>A NP_001350793.1:p.Leu329= NC_000002.12:60461822:C:T p.(Leu329=) NC_000002.12:60461822:C:T p.(Leu329=) NC_000002.12:60461822:C:T Identity +NM_001287491.2:c.1128C>T NP_001274420.1:p.Ser376= NC_000002.12:74047044:C:T p.(Ser376=) NC_000002.12:74047044:C:T p.(Ser376=) NC_000002.12:74047044:C:T Identity +NM_001200.4:c.963C>T NP_001191.1:p.His321= NC_000020.11:6778860:C:T p.(His321=) NC_000020.11:6778860:C:T p.(His321=) NC_000020.11:6778860:C:T Identity +NM_004625.4:c.531G>A NP_004616.2:p.Arg177= NC_000003.12:13854570:C:T p.(Arg177=) NC_000003.12:13854570:C:T p.(Arg177=) NC_000003.12:13854570:C:T Identity +NM_001321309.2:c.4932T>G NP_001308238.1:p.Val1644= NC_000003.12:123618678:A:C p.(Val1644=) NC_000003.12:123618678:A:C p.(Val1644=) NC_000003.12:123618678:A:C Identity +NM_014208.3:c.3123T>C NP_055023.2:p.Asp1041= NC_000004.12:87615784:T:C p.(Asp1041=) NC_000004.12:87615784:T:C p.(Asp1041=) NC_000004.12:87615784:T:C Identity +NM_001198815.1:c.3351A>C NP_001185744.1:p.Thr1117= NC_000006.12:31028781:A:C p.(Thr1117=) NC_000006.12:31028781:A:C p.(Thr1117=) NC_000006.12:31028781:A:C Identity +NM_001303136.2:c.1198C>T NP_001290065.1:p.Leu400= NC_000006.12:35241547:C:T p.(Leu400=) NC_000006.12:35241547:C:T p.(Leu400=) NC_000006.12:35241547:C:T Identity +NM_018013.4:c.1209C>T NP_060483.3:p.Ile403= NC_000006.12:107634052:C:T p.(Ile403=) NC_000006.12:107634052:C:T p.(Ile403=) NC_000006.12:107634052:C:T Identity +NM_025059.4:c.2076C>G NP_079335.2:p.Thr692= NC_000006.12:151618074:C:G p.(Thr692=) NC_000006.12:151618074:C:G p.(Thr692=) NC_000006.12:151618074:C:G Identity +NM_001287499.2:c.849C>T NP_001274428.1:p.Gly283= NC_000007.14:2586231:C:T p.(Gly283=) NC_000007.14:2586231:C:T p.(Gly283=) NC_000007.14:2586231:C:T Identity +NM_001807.6:c.1707T>C NP_001798.3:p.Thr569= NC_000009.12:133071208:T:C p.(Thr569=) NC_000009.12:133071208:T:C p.(Thr569=) NC_000009.12:133071208:T:C Identity +NM_001321225.2:c.42_53del NP_001308154.1:p.Met15_Thr18del NC_000023.11:48802684:CCTCAACTATGACCTCAAC:CCTCAAC p.(Met15_Thr18del) NC_000023.11:48802684:CCTCAACTATGACCTCAAC:CCTCAAC p.(Met15_Thr18del) NC_000023.11:48802691:TATGACCTCAAC: Identity +NM_001382235.1:c.1632C>T NP_001369164.1:p.Tyr544= NC_000020.11:63413526:G:A p.(Tyr544=) NC_000020.11:63413526:G:A p.(Tyr544=) NC_000020.11:63413526:G:A Identity +NM_016580.4:c.3333G>A NP_057664.1:p.Ser1111= NC_000005.10:141945602:C:T p.(Ser1111=) NC_000005.10:141945602:C:T p.(Ser1111=) NC_000005.10:141945602:C:T Identity +NM_001005505.3:c.159G>A NP_001005505.1:p.Leu53= NC_000003.12:50503264:C:T p.(Leu53=) NC_000003.12:50503264:C:T p.(Leu53=) NC_000003.12:50503264:C:T Identity +NM_001166111.2:c.1458G>A NP_001159583.1:p.Ser486= NC_000019.10:7542828:G:A p.(Ser486=) NC_000019.10:7542828:G:A p.(Ser486=) NC_000019.10:7542828:G:A Identity +NM_152384.3:c.999A>G NP_689597.1:p.Leu333= NC_000002.12:169504554:A:G p.(Leu333=) NC_000002.12:169504554:A:G p.(Leu333=) NC_000002.12:169504554:A:G Identity +NM_001005505.3:c.309C>T NP_001005505.1:p.Asn103= NC_000003.12:50434408:G:A p.(Asn103=) NC_000003.12:50434408:G:A p.(Asn103=) NC_000003.12:50434408:G:A Identity +NM_000093.5:c.2703G>C NP_000084.3:p.Gly901= NC_000009.12:134795083:G:C p.(Gly901=) NC_000009.12:134795083:G:C p.(Gly901=) NC_000009.12:134795083:G:C Identity +NM_001130438.3:c.5373G>T NP_001123910.1:p.Leu1791= NC_000009.12:128617654:G:T p.(Leu1791=) NC_000009.12:128617654:G:T p.(Leu1791=) NC_000009.12:128617654:G:T Identity +NM_001005505.3:c.3336G>A NP_001005505.1:p.Pro1112= NC_000003.12:50364767:C:T p.(Pro1112=) NC_000003.12:50364767:C:T p.(Pro1112=) NC_000003.12:50364767:C:T Identity +NM_020988.3:c.843G>A NP_066268.1:p.Lys281= NC_000016.10:56351502:G:A p.(Lys281=) NC_000016.10:56351502:G:A p.(Lys281=) NC_000016.10:56351502:G:A Identity +NM_001165963.4:c.3774T>G NP_001159435.1:p.Val1258= NC_000002.12:166012213:A:C p.(Val1258=) NC_000002.12:166012213:A:C p.(Val1258=) NC_000002.12:166012213:A:C Identity +NM_001165963.4:c.5569del NP_001159435.1:p.Met1856_Val1857insTer NC_000002.12:165991705:CC:C p.(Val1857Ter) NC_000002.12:165991705:CC:C p.(Val1857Ter) NC_000002.12:165991705:C: Analogous +NM_021072.4:c.1656T>C NP_066550.2:p.Ser552= NC_000005.10:45267215:A:G p.(Ser552=) NC_000005.10:45267215:A:G p.(Ser552=) NC_000005.10:45267215:A:G Identity +NM_001165963.4:c.5010G>A NP_001159435.1:p.Leu1670= NC_000002.12:165992264:C:T p.(Leu1670=) NC_000002.12:165992264:C:T p.(Leu1670=) NC_000002.12:165992264:C:T Identity +NM_001005505.3:c.72C>T NP_001005505.1:p.Gly24= NC_000003.12:50503351:G:A p.(Gly24=) NC_000003.12:50503351:G:A p.(Gly24=) NC_000003.12:50503351:G:A Identity +NM_001105243.2:c.930C>T NP_001098713.1:p.His310= NC_000023.11:100407667:G:A p.(His310=) NC_000023.11:100407667:G:A p.(His310=) NC_000023.11:100407667:G:A Identity +NM_001293085.2:c.486G>A NP_001280014.1:p.Leu162= NC_000007.14:134661992:G:A p.(Leu162=) NC_000007.14:134661992:G:A p.(Leu162=) NC_000007.14:134661992:G:A Identity +NM_001127660.2:c.1920C>T NP_001121132.1:p.Leu640= NC_000001.11:12007099:C:T p.(Leu640=) NC_000001.11:12007099:C:T p.(Leu640=) NC_000001.11:12007099:C:T Identity +NM_021072.4:c.393C>A NP_066550.2:p.Gly131= NC_000005.10:45695700:G:T p.(Gly131=) NC_000005.10:45695700:G:T p.(Gly131=) NC_000005.10:45695700:G:T Identity +NM_001316327.2:c.804G>A NP_001303256.1:p.Val268= NC_000003.12:53184889:G:A p.(Val268=) NC_000003.12:53184889:G:A p.(Val268=) NC_000003.12:53184889:G:A Identity +NM_001177984.3:c.5289G>A NP_001171455.1:p.Glu1763= NC_000012.12:51806897:G:A p.(Glu1763=) NC_000012.12:51806897:G:A p.(Glu1763=) NC_000012.12:51806897:G:A Identity +NM_001165963.4:c.4803C>A NP_001159435.1:p.Thr1601= NC_000002.12:165994194:G:T p.(Thr1601=) NC_000002.12:165994194:G:T p.(Thr1601=) NC_000002.12:165994194:G:T Identity +NM_001191060.2:c.387C>T NP_001177989.1:p.Ile129= NC_000011.10:792894:G:A p.(Ile129=) NC_000011.10:792894:G:A p.(Ile129=) NC_000011.10:792894:G:A Identity +NM_021072.4:c.1038A>C NP_066550.2:p.Ser346= NC_000005.10:45396683:T:G p.(Ser346=) NC_000005.10:45396683:T:G p.(Ser346=) NC_000005.10:45396683:T:G Identity +NM_021072.4:c.315G>C NP_066550.2:p.Gly105= NC_000005.10:45695778:C:G p.(Gly105=) NC_000005.10:45695778:C:G p.(Gly105=) NC_000005.10:45695778:C:G Identity +NM_001382235.1:c.1068G>A NP_001369164.1:p.Leu356= NC_000020.11:63433858:C:T p.(Leu356=) NC_000020.11:63433858:C:T p.(Leu356=) NC_000020.11:63433858:C:T Identity +NM_001165963.4:c.1509A>G NP_001159435.1:p.Lys503= NC_000002.12:166045195:T:C p.(Lys503=) NC_000002.12:166045195:T:C p.(Lys503=) NC_000002.12:166045195:T:C Identity +NM_000458.4:c.429C>T NP_000449.1:p.Thr143= NC_000017.11:37739554:G:A p.(Thr143=) NC_000017.11:37739554:G:A p.(Thr143=) NC_000017.11:37739554:G:A Identity +NM_001165963.4:c.5124G>A NP_001159435.1:p.Glu1708= NC_000002.12:165992150:C:T p.(Glu1708=) NC_000002.12:165992150:C:T p.(Glu1708=) NC_000002.12:165992150:C:T Identity +NM_018896.5:c.5985C>T NP_061496.2:p.Ser1995= NC_000017.11:50621718:C:T p.(Ser1995=) NC_000017.11:50621718:C:T p.(Ser1995=) NC_000017.11:50621718:C:T Identity +NM_001252197.1:c.1378C>A NP_001239126.1:p.Arg460= NC_000016.10:54933801:C:A p.(Arg460=) NC_000016.10:54933801:C:A p.(Arg460=) NC_000016.10:54933801:C:A Identity +NM_001009999.3:c.2538G>A NP_001009999.1:p.Ala846= NC_000001.11:23083270:G:A p.(Ala846=) NC_000001.11:23083270:G:A p.(Ala846=) NC_000001.11:23083270:G:A Identity +NM_001382361.1:c.1593G>A NP_001369290.1:p.Ser531= NC_000011.10:64221062:G:A p.(Ser531=) NC_000011.10:64221062:G:A p.(Ser531=) NC_000011.10:64221062:G:A Identity +NM_015335.5:c.2226G>C NP_056150.1:p.Leu742= NC_000012.12:116007422:C:G p.(Leu742=) NC_000012.12:116007422:C:G p.(Leu742=) NC_000012.12:116007422:C:G Identity +NM_001242921.1:c.126G>A NP_001229850.1:p.Glu42= NC_000020.11:45909610:C:T p.(Glu42=) NC_000020.11:45909610:C:T p.(Glu42=) NC_000020.11:45909610:C:T Identity +NM_001011649.3:c.4587C>T NP_001011649.1:p.Ser1529= NC_000009.12:120409143:G:A p.(Ser1529=) NC_000009.12:120409143:G:A p.(Ser1529=) NC_000009.12:120409143:G:A Identity +NM_000044.6:c.1194C>T NP_000035.2:p.Ala398= NC_000023.11:67546339:C:T p.(Ala398=) NC_000023.11:67546339:C:T p.(Ala398=) NC_000023.11:67546339:C:T Identity +NM_005045.4:c.7290G>A NP_005036.2:p.Leu2430= NC_000007.14:103535374:C:T p.(Leu2430=) NC_000007.14:103535374:C:T p.(Leu2430=) NC_000007.14:103535374:C:T Identity +NM_001113378.2:c.2937C>T NP_001106849.1:p.Ser979= NC_000015.10:89301372:C:T p.(Ser979=) NC_000015.10:89301372:C:T p.(Ser979=) NC_000015.10:89301372:C:T Identity +NM_021072.4:c.1038A>G NP_066550.2:p.Ser346= NC_000005.10:45396683:T:C p.(Ser346=) NC_000005.10:45396683:T:C p.(Ser346=) NC_000005.10:45396683:T:C Identity +NM_000547.6:c.1440T>C NP_000538.3:p.Thr480= NC_000002.12:1484696:T:C p.(Thr480=) NC_000002.12:1484696:T:C p.(Thr480=) NC_000002.12:1484696:T:C Identity +NM_021072.4:c.1251C>T NP_066550.2:p.Tyr417= NC_000005.10:45353225:G:A p.(Tyr417=) NC_000005.10:45353225:G:A p.(Tyr417=) NC_000005.10:45353225:G:A Identity +NM_001316327.2:c.660C>T NP_001303256.1:p.Phe220= NC_000003.12:53183453:C:T p.(Phe220=) NC_000003.12:53183453:C:T p.(Phe220=) NC_000003.12:53183453:C:T Identity +NM_001177984.3:c.3687C>T NP_001171455.1:p.Arg1229= NC_000012.12:51774229:C:T p.(Arg1229=) NC_000012.12:51774229:C:T p.(Arg1229=) NC_000012.12:51774229:C:T Identity +NM_001316327.2:c.1881C>T NP_001303256.1:p.Pro627= NC_000003.12:53192115:C:T p.(Pro627=) NC_000003.12:53192115:C:T p.(Pro627=) NC_000003.12:53192115:C:T Identity +NM_015335.5:c.789T>C NP_056150.1:p.Asp263= NC_000012.12:116019808:A:G p.(Asp263=) NC_000012.12:116019808:A:G p.(Asp263=) NC_000012.12:116019808:A:G Identity +NM_015335.5:c.6057C>T NP_056150.1:p.Ser2019= NC_000012.12:115970603:G:A p.(Ser2019=) NC_000012.12:115970603:G:A p.(Ser2019=) NC_000012.12:115970603:G:A Identity +NM_003749.3:c.61AAC[9] NP_003740.2:p.Asn28_His29insAsn NC_000013.11:109785969:GTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTG p.(Asn28dup) NC_000013.11:109785992:T:GTTGTTGTTGTTGTTGTTGTTGTTGTT ERR:Parse ERR:Parse Analogous +NM_000296.4:c.11986C>T NP_000287.4:p.Leu3996= NC_000016.10:2090897:G:A p.(Leu3996=) NC_000016.10:2090897:G:A p.(Leu3996=) NC_000016.10:2090897:G:A Identity +NM_001256617.2:c.939C>T NP_001243546.1:p.Tyr313= NC_000010.11:133293207:G:A p.(Tyr313=) NC_000010.11:133293207:G:A p.(Tyr313=) NC_000010.11:133293207:G:A Identity +NM_001256252.2:c.819T>C NP_001243181.1:p.Asp273= NC_000019.10:6906457:T:C p.(Asp273=) NC_000019.10:6906457:T:C p.(Asp273=) NC_000019.10:6906457:T:C Identity +NM_001193329.3:c.1641C>T NP_001180258.1:p.Pro547= NC_000009.12:94928510:C:T p.(Pro547=) NC_000009.12:94928510:C:T p.(Pro547=) NC_000009.12:94928510:C:T Identity +NM_004947.5:c.4341C>T NP_004938.1:p.Arg1447= NC_000003.12:51356179:C:T p.(Arg1447=) NC_000003.12:51356179:C:T p.(Arg1447=) NC_000003.12:51356179:C:T Identity +NM_001257308.2:c.522C>T NP_001244237.1:p.Val174= NC_000005.10:129765011:C:T p.(Val174=) NC_000005.10:129765011:C:T p.(Val174=) NC_000005.10:129765011:C:T Identity +NM_007032.5:c.78CGG[10] NP_008963.3:p.Gly33_Val34insGlyGlyGly NC_000022.11:37746312:GGCGGCGGCGGCGGCGGCGGCGG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG p.(Gly31_Gly33dup) NC_000022.11:37746314:C:CGGCGGCGGCGGCGGCGGCGGCGGCGGCGG ERR:Parse ERR:Parse Analogous +NM_022772.4:c.2001G>A NP_073609.2:p.Lys667= NC_000011.10:726684:G:A p.(Lys667=) NC_000011.10:726684:G:A p.(Lys667=) NC_000011.10:726684:G:A Identity +NM_000937.5:c.5373T>C NP_000928.1:p.Ser1791= NC_000017.11:7513636:T:C p.(Ser1791=) NC_000017.11:7513636:T:C p.(Ser1791=) NC_000017.11:7513636:T:C Identity +NM_001168388.3:c.501C>T NP_001161860.1:p.Pro167= NC_000006.12:139373443:G:A p.(Pro167=) NC_000006.12:139373443:G:A p.(Pro167=) NC_000006.12:139373443:G:A Identity +NM_001411042.1:c.2565G>A NP_001397971.1:p.Thr855= NC_000009.12:137017109:C:T p.(Thr855=) NC_000009.12:137017109:C:T p.(Thr855=) NC_000009.12:137017109:C:T Identity +NM_001024843.2:c.2904C>T NP_001020014.1:p.Leu968= NC_000022.11:40323054:C:T p.(Leu968=) NC_000022.11:40323054:C:T p.(Leu968=) NC_000022.11:40323054:C:T Identity +NM_001005388.3:c.582C>T NP_001005388.2:p.Asn194= NC_000001.11:204957701:C:T p.(Asn194=) NC_000001.11:204957701:C:T p.(Asn194=) NC_000001.11:204957701:C:T Identity +NM_014287.4:c.3030G>A NP_055102.3:p.Pro1010= NC_000016.10:14882595:G:A p.(Pro1010=) NC_000016.10:14882595:G:A p.(Pro1010=) NC_000016.10:14882595:G:A Identity +NM_019093.4:c.396A>G NP_061966.1:p.Leu132= NC_000002.12:233729521:A:G p.(Leu132=) NC_000002.12:233729521:A:G p.(Leu132=) NC_000002.12:233729521:A:G Identity +NM_001365896.1:c.3270A>C NP_001352825.1:p.Pro1090= NC_000012.12:56718259:T:G p.(Pro1090=) NC_000012.12:56718259:T:G p.(Pro1090=) NC_000012.12:56718259:T:G Identity +NM_001168647.3:c.435A>G NP_001162118.1:p.Ser145= NC_000023.11:21440696:A:G p.(Ser145=) NC_000023.11:21440696:A:G p.(Ser145=) NC_000023.11:21440696:A:G Identity +NM_003482.4:c.5082T>G NP_003473.3:p.Pro1694= NC_000012.12:49044403:A:C p.(Pro1694=) NC_000012.12:49044403:A:C p.(Pro1694=) NC_000012.12:49044403:A:C Identity +NM_001426.4:c.183G>A NP_001417.3:p.Ala61= NC_000002.12:118846984:C:T p.(Ala61=) NC_000002.12:118846984:C:T p.(Ala61=) NC_000002.12:118846984:C:T Identity +NM_001284333.3:c.510C>T NP_001271262.1:p.Gly170= NC_000017.11:62536315:C:T p.(Gly170=) NC_000017.11:62536315:C:T p.(Gly170=) NC_000017.11:62536315:C:T Identity +NM_001257282.2:c.747C>G NP_001244211.1:p.Thr249= NC_000002.12:232130763:C:G p.(Thr249=) NC_000002.12:232130763:C:G p.(Thr249=) NC_000002.12:232130763:C:G Identity +NM_001135.4:c.2970G>A NP_001126.3:p.Glu990= NC_000015.10:88855554:G:A p.(Glu990=) NC_000015.10:88855554:G:A p.(Glu990=) NC_000015.10:88855554:G:A Identity +NM_020299.5:c.669A>T NP_064695.3:p.Pro223= NC_000007.14:134537588:A:T p.(Pro223=) NC_000007.14:134537588:A:T p.(Pro223=) NC_000007.14:134537588:A:T Identity +NM_020338.4:c.2586C>T NP_065071.1:p.Ile862= NC_000010.11:79306261:C:T p.(Ile862=) NC_000010.11:79306261:C:T p.(Ile862=) NC_000010.11:79306261:C:T Identity +NM_001382637.1:c.2577C>G NP_001369566.1:p.Thr859= NC_000015.10:31483518:G:C p.(Thr859=) NC_000015.10:31483518:G:C p.(Thr859=) NC_000015.10:31483518:G:C Identity +NM_170606.3:c.14025G>A NP_733751.2:p.Ala4675= NC_000007.14:152146604:C:T p.(Ala4675=) NC_000007.14:152146604:C:T p.(Ala4675=) NC_000007.14:152146604:C:T Identity +NM_001130167.2:c.937A>C NP_001123639.1:p.Arg313= NC_000019.10:42755038:T:G p.(Arg313=) NC_000019.10:42755038:T:G p.(Arg313=) NC_000019.10:42755038:T:G Identity +NM_001080453.3:c.4227C>T NP_001073922.2:p.Leu1409= NC_000007.14:1479531:G:A p.(Leu1409=) NC_000007.14:1479531:G:A p.(Leu1409=) NC_000007.14:1479531:G:A Identity +NM_001372044.2:c.16GCC[9] NP_001358973.1:p.Ala13_Pro14insAla NC_000022.11:50674428:CGCCGCCGCCGCCGCCGCCGCCGCC:CGCCGCCGCCGCCGCCGCCGCCGCCGCC p.(Ala13dup) NC_000022.11:50674429:G:GCCGCCGCCGCCGCCGCCGCCGCCGCC ERR:Parse ERR:Parse Analogous +NM_001372233.1:c.1213C>T NP_001359162.1:p.Leu405= NC_000005.10:114363153:C:T p.(Leu405=) NC_000005.10:114363153:C:T p.(Leu405=) NC_000005.10:114363153:C:T Identity +NM_020717.5:c.1686G>A NP_065768.2:p.Glu562= NC_000023.11:50634386:C:T p.(Glu562=) NC_000023.11:50634386:C:T p.(Glu562=) NC_000023.11:50634386:C:T Identity +NM_022454.4:c.750C>T NP_071899.1:p.Thr250= NC_000008.11:54459499:C:T p.(Thr250=) NC_000008.11:54459499:C:T p.(Thr250=) NC_000008.11:54459499:C:T Identity +NM_001385079.1:c.517T>C NP_001372008.1:p.Leu173= NC_000006.12:165662294:A:G p.(Leu173=) NC_000006.12:165662294:A:G p.(Leu173=) NC_000006.12:165662294:A:G Identity +NM_001168407.2:c.1081C>A NP_001161879.1:p.Arg361= NC_000006.12:72251328:C:A p.(Arg361=) NC_000006.12:72251328:C:A p.(Arg361=) NC_000006.12:72251328:C:A Identity +NM_000832.7:c.756C>A NP_000823.4:p.Arg252= NC_000009.12:137156752:C:A p.(Arg252=) NC_000009.12:137156752:C:A p.(Arg252=) NC_000009.12:137156752:C:A Identity +NM_000542.5:c.1113C>T NP_000533.4:p.Ser371= NC_000002.12:85661505:G:A p.(Ser371=) NC_000002.12:85661505:G:A p.(Ser371=) NC_000002.12:85661505:G:A Identity +NM_032242.4:c.4305G>A NP_115618.3:p.Ser1435= NC_000003.12:127022760:G:A p.(Ser1435=) NC_000003.12:127022760:G:A p.(Ser1435=) NC_000003.12:127022760:G:A Identity +NM_001425749.1:c.888A>T NP_001412678.1:p.Ser296= NC_000016.10:81891491:A:T p.(Ser296=) NC_000016.10:81891491:A:T p.(Ser296=) NC_000016.10:81891491:A:T Identity +NM_001290307.3:c.2478T>G NP_001277236.1:p.Pro826= NC_000005.10:138932931:T:G p.(Pro826=) NC_000005.10:138932931:T:G p.(Pro826=) NC_000005.10:138932931:T:G Identity +NM_006295.3:c.2070C>T NP_006286.1:p.Ser690= NC_000006.12:31782364:G:A p.(Ser690=) NC_000006.12:31782364:G:A p.(Ser690=) NC_000006.12:31782364:G:A Identity +NM_005921.2:c.2091C>T NP_005912.1:p.Arg697= NC_000005.10:56880713:C:T p.(Arg697=) NC_000005.10:56880713:C:T p.(Arg697=) NC_000005.10:56880713:C:T Identity +NM_001304745.2:c.123C>A NP_001291674.1:p.Gly41= NC_000013.11:48037868:C:A p.(Gly41=) NC_000013.11:48037868:C:A p.(Gly41=) NC_000013.11:48037868:C:A Identity +NM_001267040.1:c.1602C>T NP_001253969.1:p.Leu534= NC_000006.12:15501078:C:T p.(Leu534=) NC_000006.12:15501078:C:T p.(Leu534=) NC_000006.12:15501078:C:T Identity +NM_001042440.5:c.999C>T NP_001035905.1:p.Leu333= NC_000005.10:96742677:C:T p.(Leu333=) NC_000005.10:96742677:C:T p.(Leu333=) NC_000005.10:96742677:C:T Identity +NM_001080453.3:c.1680C>T NP_001073922.2:p.Ala560= NC_000007.14:1496186:G:A p.(Ala560=) NC_000007.14:1496186:G:A p.(Ala560=) NC_000007.14:1496186:G:A Identity +NM_001282688.2:c.1572G>A NP_001269617.1:p.Lys524= NC_000009.12:89347020:G:A p.(Lys524=) NC_000009.12:89347020:G:A p.(Lys524=) NC_000009.12:89347020:G:A Identity +NM_001353345.2:c.1371C>T NP_001340274.1:p.Pro457= NC_000012.12:121810315:C:T p.(Pro457=) NC_000012.12:121810315:C:T p.(Pro457=) NC_000012.12:121810315:C:T Identity +NM_001287750.2:c.196CACTCC[10] NP_001274679.1:p.Ser77_Cys78insHisSerHisSerHisSerHisSer NC_000008.11:11808709:TCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC:TCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC p.(His70_Ser77dup) NC_000008.11:11808712:C:CACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC ERR:Parse ERR:Parse Analogous +NM_001365953.1:c.3138A>G NP_001352882.1:p.Gln1046= NC_000001.11:10304322:A:G p.(Gln1046=) NC_000001.11:10304322:A:G p.(Gln1046=) NC_000001.11:10304322:A:G Identity +NM_001247988.1:c.1428C>T NP_001234917.1:p.Leu476= NC_000014.9:39319262:C:T p.(Leu476=) NC_000014.9:39319262:C:T p.(Leu476=) NC_000014.9:39319262:C:T Identity +NM_001010909.5:c.1077A>T NP_001010909.2:p.Thr359= NC_000006.12:30987251:A:T p.(Thr359=) NC_000006.12:30987251:A:T p.(Thr359=) NC_000006.12:30987251:A:T Identity +NM_000377.3:c.1149T>A NP_000368.1:p.Pro383= NC_000023.11:48688876:T:A p.(Pro383=) NC_000023.11:48688876:T:A p.(Pro383=) NC_000023.11:48688876:T:A Identity +NM_001394998.1:c.4407G>A NP_001381927.1:p.Pro1469= NC_000017.11:63420136:G:A p.(Pro1469=) NC_000017.11:63420136:G:A p.(Pro1469=) NC_000017.11:63420136:G:A Identity +NM_015202.5:c.1053C>T NP_056017.4:p.Asn351= NC_000016.10:27698439:C:T p.(Asn351=) NC_000016.10:27698439:C:T p.(Asn351=) NC_000016.10:27698439:C:T Identity +NM_000552.5:c.1008C>T NP_000543.3:p.Leu336= NC_000012.12:6072431:G:A p.(Leu336=) NC_000012.12:6072431:G:A p.(Leu336=) NC_000012.12:6072431:G:A Identity +NM_022834.5:c.825G>A NP_073745.2:p.Pro275= NC_000001.11:1439273:G:A p.(Pro275=) NC_000001.11:1439273:G:A p.(Pro275=) NC_000001.11:1439273:G:A Identity +NM_000573.4:c.804T>G NP_000564.2:p.Pro268= NC_000001.11:207523926:T:G ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001351444.2:c.7377T>C NP_001338373.1:p.Leu2459= NC_000006.12:87261425:T:C p.(Leu2459=) NC_000006.12:87261425:T:C p.(Leu2459=) NC_000006.12:87261425:T:C Identity +NM_013254.4:c.1402T>C NP_037386.1:p.Leu468= NC_000012.12:64488547:T:C p.(Leu468=) NC_000012.12:64488547:T:C p.(Leu468=) NC_000012.12:64488547:T:C Identity +NM_015192.4:c.1923A>G NP_056007.1:p.Glu641= NC_000020.11:8733271:A:G p.(Glu641=) NC_000020.11:8733271:A:G p.(Glu641=) NC_000020.11:8733271:A:G Identity +NM_001184.4:c.2898C>T NP_001175.2:p.His966= NC_000003.12:142550209:G:A p.(His966=) NC_000003.12:142550209:G:A p.(His966=) NC_000003.12:142550209:G:A Identity +NM_001807.6:c.2160C>T NP_001798.3:p.Ser720= NC_000009.12:133071661:C:T p.(Ser720=) NC_000009.12:133071661:C:T p.(Ser720=) NC_000009.12:133071661:C:T Identity +NM_001031714.4:c.2256C>T NP_001026884.3:p.Arg752= NC_000014.9:104710952:C:T p.(Arg752=) NC_000014.9:104710952:C:T p.(Arg752=) NC_000014.9:104710952:C:T Identity +NM_001411054.1:c.4641T>G NP_001397983.1:p.Leu1547= NC_000014.9:102939717:A:C p.(Leu1547=) NC_000014.9:102939717:A:C p.(Leu1547=) NC_000014.9:102939717:A:C Identity +NM_001304745.2:c.36A>C NP_001291674.1:p.Pro12= NC_000013.11:48037781:A:C p.(Pro12=) NC_000013.11:48037781:A:C p.(Pro12=) NC_000013.11:48037781:A:C Identity +NM_022834.5:c.276C>T NP_073745.2:p.Ser92= NC_000001.11:1437128:C:T p.(Ser92=) NC_000001.11:1437128:C:T p.(Ser92=) NC_000001.11:1437128:C:T Identity +NM_001322468.1:c.17370A>G NP_001309397.1:p.Ser5790= NC_000003.12:195779507:T:C p.(Ser5790=) NT_187532.1:152032:T:C p.(Ser5790=) NC_000003.12:152032:T:C Identity +NM_001142864.4:c.1047G>A NP_001136336.2:p.Glu349= NC_000016.10:88737787:C:T p.(Glu349=) NC_000016.10:88737787:C:T p.(Glu349=) NC_000016.10:88737787:C:T Identity +NM_001258211.2:c.87A>T NP_001245140.1:p.Leu29= NC_000008.11:28483359:T:A p.(Leu29=) NC_000008.11:28483359:T:A p.(Leu29=) NC_000008.11:28483359:T:A Identity +NM_001271874.2:c.351G>A NP_001258803.1:p.Glu117= NC_000020.11:36240218:G:A p.(Glu117=) NC_000020.11:36240218:G:A p.(Glu117=) NC_000020.11:36240218:G:A Identity +NM_199511.3:c.1839C>G NP_955805.1:p.Ala613= NC_000003.12:112638066:G:C p.(Ala613=) NC_000003.12:112638066:G:C p.(Ala613=) NC_000003.12:112638066:G:C Identity +NM_001184985.2:c.978C>T NP_001171914.1:p.Ser326= NC_000012.12:827086:C:T p.(Ser326=) NC_000012.12:827086:C:T p.(Ser326=) NC_000012.12:827086:C:T Identity +NM_001010909.5:c.1203G>A NP_001010909.2:p.Gly401= NC_000006.12:30987377:G:A p.(Gly401=) NC_000006.12:30987377:G:A p.(Gly401=) NC_000006.12:30987377:G:A Identity +NM_033396.3:c.4383A>T NP_203754.2:p.Ala1461= NC_000011.10:57302758:T:A p.(Ala1461=) NC_000011.10:57302758:T:A p.(Ala1461=) NC_000011.10:57302758:T:A Identity +NM_001304944.2:c.633G>T NP_001291873.1:p.Val211= NC_000012.12:49349504:G:T p.(Val211=) NC_000012.12:49349504:G:T p.(Val211=) NC_000012.12:49349504:G:T Identity +NM_001378006.1:c.600C>T NP_001364935.1:p.His200= NC_000011.10:70325567:C:T p.(His200=) NC_000011.10:70325567:C:T p.(His200=) NC_000011.10:70325567:C:T Identity +NM_019066.5:c.2922C>T NP_061939.3:p.Ser974= NC_000015.10:23644820:G:A p.(Ser974=) NC_000015.10:23644820:G:A p.(Ser974=) NC_000015.10:23644820:G:A Identity +NM_001411042.1:c.6207C>T NP_001397971.1:p.Ala2069= NC_000009.12:137010335:G:A p.(Ala2069=) NC_000009.12:137010335:G:A p.(Ala2069=) NC_000009.12:137010335:G:A Identity +NM_020765.3:c.13725T>C NP_065816.2:p.Ala4575= NC_000001.11:19094926:A:G p.(Ala4575=) NC_000001.11:19094926:A:G p.(Ala4575=) NC_000001.11:19094926:A:G Identity +NM_000618.5:c.315G>T NP_000609.1:p.Leu105= NC_000012.12:102419595:C:A p.(Leu105=) NC_000012.12:102419595:C:A p.(Leu105=) NC_000012.12:102419595:C:A Identity +NM_006950.3:c.1284T>C NP_008881.2:p.Pro428= NC_000023.11:47575148:A:G p.(Pro428=) NC_000023.11:47575148:A:G p.(Pro428=) NC_000023.11:47575148:A:G Identity +NM_001363669.2:c.210A>G NP_001350598.1:p.Leu70= NC_000014.9:90404410:A:G p.(Leu70=) NC_000014.9:90404410:A:G p.(Leu70=) NC_000014.9:90404410:A:G Identity +NM_016614.3:c.18C>T NP_057698.2:p.Cys6= NC_000006.12:24666844:G:A p.(Cys6=) NC_000006.12:24666844:G:A p.(Cys6=) NC_000006.12:24666844:G:A Identity +NM_001313915.2:c.1986T>C NP_001300844.1:p.Cys662= NC_000002.12:88575043:A:G p.(Cys662=) NC_000002.12:88575043:A:G p.(Cys662=) NC_000002.12:88575043:A:G Identity +NM_001346813.1:c.654C>G NP_001333742.1:p.Pro218= NC_000006.12:156778582:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_016343.4:c.3780C>T NP_057427.3:p.Gly1260= NC_000001.11:214642117:C:T p.(Gly1260=) NC_000001.11:214642117:C:T p.(Gly1260=) NC_000001.11:214642117:C:T Identity +NM_001146274.2:c.1764G>C NP_001139746.1:p.Gly588= NC_000010.11:113165926:G:C p.(Gly588=) NC_000010.11:113165926:G:C p.(Gly588=) NC_000010.11:113165926:G:C Identity +NM_003047.5:c.1221C>T NP_003038.2:p.His407= NC_000001.11:27107708:G:A p.(His407=) NC_000001.11:27107708:G:A p.(His407=) NC_000001.11:27107708:G:A Identity +NM_016562.4:c.2424G>A NP_057646.1:p.Leu808= NC_000023.11:12887931:G:A p.(Leu808=) NC_000023.11:12887931:G:A p.(Leu808=) NC_000023.11:12887931:G:A Identity +NM_001172085.2:c.177G>A NP_001165556.1:p.Gln59= NC_000006.12:170561972:G:A p.(Gln59=) NC_000006.12:170561972:G:A p.(Gln59=) NC_000006.12:170561972:G:A Identity +NM_001080466.2:c.840C>G NP_001073935.1:p.Pro280= NC_000017.11:74357253:G:C p.(Pro280=) NC_000017.11:74357253:G:C p.(Pro280=) NC_000017.11:74357253:G:C Identity +NM_001040424.3:c.1026C>T NP_001035514.2:p.Thr342= NC_000021.9:41836624:G:A p.(Thr342=) NC_000021.9:41836624:G:A p.(Thr342=) NC_000021.9:41836624:G:A Identity +NM_001256850.1:c.91950T>A NP_001243779.1:p.Thr30650= NC_000002.12:178543099:A:T p.(Thr30650=) NC_000002.12:178543099:A:T p.(Thr30650=) NC_000002.12:178543099:A:T Identity +NM_001142864.4:c.2832C>T NP_001136336.2:p.Ile944= NC_000016.10:88732493:G:A p.(Ile944=) NC_000016.10:88732493:G:A p.(Ile944=) NC_000016.10:88732493:G:A Identity +NM_001326607.2:c.120C>T NP_001313536.1:p.Gly40= NC_000007.14:6009482:C:T p.(Gly40=) NC_000007.14:6009482:C:T p.(Gly40=) NC_000007.14:6009482:C:T Identity +NM_001256468.2:c.1716T>G NP_001243397.1:p.Leu572= NC_000010.11:74981819:T:G p.(Leu572=) NC_000010.11:74981819:T:G p.(Leu572=) NC_000010.11:74981819:T:G Identity +NM_012464.5:c.1446T>C NP_036596.3:p.Tyr482= NC_000004.12:166043340:T:C p.(Tyr482=) NC_000004.12:166043340:T:C p.(Tyr482=) NC_000004.12:166043340:T:C Identity +NM_001162501.2:c.1744AGT[3] NP_001155973.1:p.Ser583_Asp584insSer NC_000022.11:40265973:AGTAGT:AGTAGTAGT p.(Ser583dup) NC_000022.11:40265973:A:AGTAGTAGT ERR:Parse ERR:Parse Analogous +NM_001270476.2:c.234C>T NP_001257405.1:p.Asn78= NC_000006.12:43007466:C:T p.(Asn78=) NC_000006.12:43007466:C:T p.(Asn78=) NC_000006.12:43007466:C:T Identity +NM_032861.4:c.1233C>T NP_116250.3:p.Arg411= NC_000006.12:158119103:G:A p.(Arg411=) NC_000006.12:158119103:G:A p.(Arg411=) NC_000006.12:158119103:G:A Identity +NM_001204425.2:c.4560G>A NP_001191354.2:p.Glu1520= NC_000013.11:102875539:G:A p.(Glu1520=) NC_000013.11:102875539:G:A p.(Glu1520=) NC_000013.11:102875539:G:A Identity +NM_001080453.3:c.2010G>A NP_001073922.2:p.Ala670= NC_000007.14:1493811:C:T p.(Ala670=) NC_000007.14:1493811:C:T p.(Ala670=) NC_000007.14:1493811:C:T Identity +NM_001128922.2:c.1467G>C NP_001122394.1:p.Leu489= NC_000011.10:76660125:C:G p.(Leu489=) NC_000011.10:76660125:C:G p.(Leu489=) NC_000011.10:76660125:C:G Identity +NM_001252100.2:c.216C>T NP_001239029.1:p.Ile72= NC_000001.11:201009313:G:A p.(Ile72=) NC_000001.11:201009313:G:A p.(Ile72=) NC_000001.11:201009313:G:A Identity +NM_001807.6:c.2103C>T NP_001798.3:p.Pro701= NC_000009.12:133071604:C:T p.(Pro701=) NC_000009.12:133071604:C:T p.(Pro701=) NC_000009.12:133071604:C:T Identity +NM_001287491.2:c.4266G>C NP_001274420.1:p.Leu1422= NC_000002.12:74101053:G:C p.(Leu1422=) NC_000002.12:74101053:G:C p.(Leu1422=) NC_000002.12:74101053:G:C Identity +NM_001289396.2:c.657_659GCA[4] NP_001276325.1:p.Gln238_Pro239insGln NC_000009.12:2039764:CAGCAGCAGCA:CAGCAGCAGCAGCA p.(Gln238dup) NC_000009.12:2039766:GCA:GCAGCAGCAGCA ERR:Parse ERR:Parse Analogous +NM_007118.4:c.7311G>A NP_009049.2:p.Ala2437= NC_000005.10:14487938:G:A p.(Ala2437=) NC_000005.10:14487938:G:A p.(Ala2437=) NC_000005.10:14487938:G:A Identity +NM_001161560.3:c.718A>C NP_001155032.1:p.Arg240= NC_000003.12:171175306:T:G p.(Arg240=) NC_000003.12:171175306:T:G p.(Arg240=) NC_000003.12:171175306:T:G Identity +NM_001134382.3:c.855G>A NP_001127854.1:p.Ser285= NC_000003.12:12936160:C:T p.(Ser285=) NC_000003.12:12936160:C:T p.(Ser285=) NC_000003.12:12936160:C:T Identity +NM_001330360.2:c.3282T>C NP_001317289.1:p.Ala1094= NC_000023.11:24812848:T:C p.(Ala1094=) NC_000023.11:24812848:T:C p.(Ala1094=) NC_000023.11:24812848:T:C Identity +NM_001207004.2:c.951A>G NP_001193933.1:p.Thr317= NC_000004.12:69286831:A:G p.(Thr317=) NC_000004.12:69286831:A:G p.(Thr317=) NC_000004.12:69286831:A:G Identity +NM_001146056.3:c.321C>T NP_001139528.1:p.Pro107= NC_000019.10:54181086:G:A p.(Pro107=) NC_000019.10:54181086:G:A p.(Pro107=) NC_000019.10:54181086:G:A Identity +NM_030777.4:c.624G>A NP_110404.1:p.Lys208= NC_000020.11:46725659:G:A p.(Lys208=) NC_000020.11:46725659:G:A p.(Lys208=) NC_000020.11:46725659:G:A Identity +NM_001164270.2:c.249A>G NP_001157742.1:p.Pro83= NC_000015.10:40706199:A:G p.(Pro83=) NC_000015.10:40706199:A:G p.(Pro83=) NC_000015.10:40706199:A:G Identity +NM_004667.6:c.12018G>A NP_004658.3:p.Leu4006= NC_000015.10:28135689:C:T p.(Leu4006=) NC_000015.10:28135689:C:T p.(Leu4006=) NC_000015.10:28135689:C:T Identity +NM_001304815.2:c.729T>C NP_001291744.1:p.Tyr243= NC_000019.10:42272511:T:C p.(Tyr243=) NC_000019.10:42272511:T:C p.(Tyr243=) NC_000019.10:42272511:T:C Identity +NM_015001.3:c.10872C>T NP_055816.2:p.Tyr3624= NC_000001.11:15939303:C:T p.(Tyr3624=) NC_000001.11:15939303:C:T p.(Tyr3624=) NC_000001.11:15939303:C:T Identity +NM_001350929.2:c.6225G>A NP_001337858.1:p.Ser2075= NC_000014.9:104948925:C:T p.(Ser2075=) NC_000014.9:104948925:C:T p.(Ser2075=) NC_000014.9:104948925:C:T Identity +NM_001005463.3:c.318C>T NP_001005463.1:p.Asn106= NC_000010.11:129962978:G:A p.(Asn106=) NC_000010.11:129962978:G:A p.(Asn106=) NC_000010.11:129962978:G:A Identity +NM_001351444.2:c.7239A>T NP_001338373.1:p.Ala2413= NC_000006.12:87261287:A:T p.(Ala2413=) NC_000006.12:87261287:A:T p.(Ala2413=) NC_000006.12:87261287:A:T Identity +NM_001258400.2:c.1116T>G NP_001245329.1:p.Pro372= NC_000017.11:44904944:T:G p.(Pro372=) NC_000017.11:44904944:T:G p.(Pro372=) NC_000017.11:44904944:T:G Identity +NM_032178.3:c.390C>G NP_115554.2:p.Ala130= NC_000016.10:68310415:G:C p.(Ala130=) NC_000016.10:68310415:G:C p.(Ala130=) NC_000016.10:68310415:G:C Identity +NM_001145536.2:c.12C>A NP_001139008.1:p.Thr4= NC_000017.11:4899773:C:A p.(Thr4=) NC_000017.11:4899773:C:A p.(Thr4=) NC_000017.11:4899773:C:A Identity +NM_002487.3:c.27C>T NP_002478.1:p.Ser9= NC_000015.10:23687190:G:A p.(Ser9=) NC_000015.10:23687190:G:A p.(Ser9=) NC_000015.10:23687190:G:A Identity +NM_005121.3:c.5757G>T NP_005112.2:p.Pro1919= NC_000017.11:61955704:C:A p.(Pro1919=) NC_000017.11:61955704:C:A p.(Pro1919=) NC_000017.11:61955704:C:A Identity +NM_001387142.1:c.2497C>T NP_001374071.1:p.Leu833= NC_000015.10:78003381:G:A p.(Leu833=) NC_000015.10:78003381:G:A p.(Leu833=) NC_000015.10:78003381:G:A Identity +NM_001142333.2:c.781CCCCCG[1] NP_001135805.1:p.Pro263_Pro264del NC_000016.10:7653916:CGCCCCCGCCCCCG:CGCCCCCG p.(Pro263_Pro264del) NC_000016.10:7653918:C:CCCCCG ERR:Parse ERR:Parse Identity +NM_006662.3:c.1662G>A NP_006653.2:p.Leu554= NC_000016.10:30712003:G:A p.(Leu554=) NC_000016.10:30712003:G:A p.(Leu554=) NC_000016.10:30712003:G:A Identity +NM_015884.4:c.804T>C NP_056968.1:p.Ile268= NC_000023.11:21869511:T:C p.(Ile268=) NC_000023.11:21869511:T:C p.(Ile268=) NC_000023.11:21869511:T:C Identity +NM_001202554.2:c.420G>A NP_001189483.1:p.Leu140= NC_000001.11:26794453:G:A p.(Leu140=) NC_000001.11:26794453:G:A p.(Leu140=) NC_000001.11:26794453:G:A Identity +NM_001031711.3:c.612G>T NP_001026881.1:p.Arg204= NC_000005.10:172932505:G:T p.(Arg204=) NC_000005.10:172932505:G:T p.(Arg204=) NC_000005.10:172932505:G:T Identity +NM_001271938.2:c.2844G>C NP_001258867.1:p.Pro948= NC_000019.10:42351322:G:C p.(Pro948=) NC_000019.10:42351322:G:C p.(Pro948=) NC_000019.10:42351322:G:C Identity +NM_014641.3:c.3537C>T NP_055456.2:p.Thr1179= NC_000006.12:30705645:G:A p.(Thr1179=) NC_000006.12:30705645:G:A p.(Thr1179=) NC_000006.12:30705645:G:A Identity +NM_001326475.2:c.270C>T NP_001313404.1:p.Tyr90= NC_000012.12:8059915:G:A p.(Tyr90=) NC_000012.12:8059915:G:A p.(Tyr90=) NC_000012.12:8059915:G:A Identity +NM_004716.4:c.1779G>A NP_004707.2:p.Arg593= NC_000011.10:117207976:C:T p.(Arg593=) NC_000011.10:117207976:C:T p.(Arg593=) NC_000011.10:117207976:C:T Identity +NM_001287742.2:c.1098C>T NP_001274671.1:p.Ile366= NC_000008.11:11838452:C:T p.(Ile366=) NC_000008.11:11838452:C:T p.(Ile366=) NC_000008.11:11838452:C:T Identity +NM_001164623.3:c.1668G>A NP_001158095.1:p.Thr556= NC_000008.11:140547547:C:T p.(Thr556=) NC_000008.11:140547547:C:T p.(Thr556=) NC_000008.11:140547547:C:T Identity +NM_006931.3:c.1464T>C NP_008862.1:p.Pro488= NC_000012.12:7921439:A:G p.(Pro488=) NC_000012.12:7921439:A:G p.(Pro488=) NC_000012.12:7921439:A:G Identity +NM_018406.7:c.4140C>T NP_060876.5:p.Thr1380= NC_000003.12:195787439:G:A p.(Thr1380=) NC_000003.12:195787439:G:A p.(Thr1380=) NC_000003.12:195787439:G:A Identity +NM_018406.7:c.10872A>G NP_060876.5:p.Ser3624= NC_000003.12:195780707:T:C p.(Ser3624=) NC_000003.12:195780707:T:C p.(Ser3624=) NC_000003.12:195780707:T:C Identity +NM_000833.5:c.39G>T NP_000824.1:p.Pro13= NC_000016.10:10180372:C:A p.(Pro13=) NC_000016.10:10180372:C:A p.(Pro13=) NC_000016.10:10180372:C:A Identity +NM_001166695.3:c.870C>T NP_001160167.1:p.Pro290= NC_000005.10:36679635:C:T p.(Pro290=) NC_000005.10:36679635:C:T p.(Pro290=) NC_000005.10:36679635:C:T Identity +NM_022834.5:c.894G>A NP_073745.2:p.Arg298= NC_000001.11:1439342:G:A p.(Arg298=) NC_000001.11:1439342:G:A p.(Arg298=) NC_000001.11:1439342:G:A Identity +NM_022053.4:c.1779C>T NP_071336.1:p.Cys593= NC_000023.11:102326265:C:T p.(Cys593=) NC_000023.11:102326265:C:T p.(Cys593=) NC_000023.11:102326265:C:T Identity +NM_001144769.5:c.16677A>G NP_001138241.1:p.Pro5559= NC_000006.12:56460218:T:C p.(Pro5559=) NC_000006.12:56460218:T:C p.(Pro5559=) NC_000006.12:56460218:T:C Identity +NM_001330520.3:c.358CAGCAGCCACAG[1] NP_001317449.1:p.120QQPQ[1] NC_000016.10:24777123:CAGCAGCAGCCACAGCAGCAGCCACAG:CAGCAGCAGCCACAG p.(Gln124_Gln127del) NC_000016.10:24777126:C:CAGCAGCCACAG ERR:Parse ERR:Parse Analogous +NM_001394372.1:c.4041A>C NP_001381301.1:p.Pro1347= NC_000019.10:47701772:A:C p.(Pro1347=) NC_000019.10:47701772:A:C p.(Pro1347=) NC_000019.10:47701772:A:C Identity +NM_001163809.2:c.2244G>A NP_001157281.1:p.Leu748= NC_000017.11:1727202:G:A p.(Leu748=) NC_000017.11:1727202:G:A p.(Leu748=) NC_000017.11:1727202:G:A Identity +NM_052884.3:c.1371A>C NP_443116.2:p.Pro457= NC_000019.10:49958562:T:G p.(Pro457=) NC_000019.10:49958562:T:G p.(Pro457=) NC_000019.10:49958562:T:G Identity +NM_001009931.3:c.8121C>T NP_001009931.1:p.Tyr2707= NC_000001.11:152213507:G:A p.(Tyr2707=) NC_000001.11:152213507:G:A p.(Tyr2707=) NC_000001.11:152213507:G:A Identity +NM_001003698.4:c.3369A>T NP_001003698.1:p.Pro1123= NC_000006.12:7231467:A:T p.(Pro1123=) NC_000006.12:7231467:A:T p.(Pro1123=) NC_000006.12:7231467:A:T Identity +NM_001350748.2:c.4209G>C NP_001337677.1:p.Ser1403= NC_000013.11:101073658:C:G p.(Ser1403=) NC_000013.11:101073658:C:G p.(Ser1403=) NC_000013.11:101073658:C:G Identity +NM_001282506.2:c.1170C>T NP_001269435.1:p.Asp390= NC_000003.12:195725772:C:T p.(Asp390=) NC_000003.12:195725772:C:T p.(Asp390=) NC_000003.12:195725772:C:T Identity +NM_005321.3:c.567G>C NP_005312.1:p.Ala189= NC_000006.12:26156956:G:C p.(Ala189=) NC_000006.12:26156956:G:C p.(Ala189=) NC_000006.12:26156956:G:C Identity +NM_173651.4:c.16488T>C NP_775922.3:p.Asn5496= NC_000002.12:185805793:T:C p.(Asn5496=) NC_000002.12:185805793:T:C p.(Asn5496=) NC_000002.12:185805793:T:C Identity +NM_017819.4:c.327A>G NP_060289.2:p.Pro109= NC_000003.12:101565107:A:G p.(Pro109=) NC_000003.12:101565107:A:G p.(Pro109=) NC_000003.12:101565107:A:G Identity +NM_152701.5:c.3819C>T NP_689914.3:p.Asn1273= NC_000007.14:48273484:C:T p.(Asn1273=) NC_000007.14:48273484:C:T p.(Asn1273=) NC_000007.14:48273484:C:T Identity +NM_001291296.2:c.1080A>G NP_001278225.1:p.Arg360= NC_000019.10:47475478:T:C p.(Arg360=) NC_000019.10:47475478:T:C p.(Arg360=) NC_000019.10:47475478:T:C Identity +NM_178562.5:c.522A>G NP_848657.1:p.Ser174= NC_000007.14:129166839:A:G p.(Ser174=) NC_000007.14:129166839:A:G p.(Ser174=) NC_000007.14:129166839:A:G Identity +NM_001999.4:c.2229A>G NP_001990.2:p.Pro743= NC_000005.10:128369200:T:C p.(Pro743=) NC_000005.10:128369200:T:C p.(Pro743=) NC_000005.10:128369200:T:C Identity +NM_001080453.3:c.1485G>A NP_001073922.2:p.Ser495= NC_000007.14:1497254:C:T p.(Ser495=) NC_000007.14:1497254:C:T p.(Ser495=) NC_000007.14:1497254:C:T Identity +NM_001366574.1:c.954A>G NP_001353503.1:p.Leu318= NC_000012.12:88172679:A:G p.(Leu318=) NC_000012.12:88172679:A:G p.(Leu318=) NC_000012.12:88172679:A:G Identity +NM_001013839.4:c.1272G>A NP_001013861.1:p.Ala424= NC_000017.11:76088490:C:T p.(Ala424=) NC_000017.11:76088490:C:T p.(Ala424=) NC_000017.11:76088490:C:T Identity +NM_001004459.2:c.168C>T NP_001004459.2:p.His56= NC_000011.10:58203974:G:A p.(His56=) NC_000011.10:58203974:G:A p.(His56=) NC_000011.10:58203974:G:A Identity +NM_024669.3:c.1617T>C NP_078945.2:p.His539= NC_000005.10:56111130:A:G p.(His539=) NC_000005.10:56111130:A:G p.(His539=) NC_000005.10:56111130:A:G Identity +NM_014712.3:c.5076G>A NP_055527.1:p.Lys1692= NC_000016.10:30983974:G:A p.(Lys1692=) NC_000016.10:30983974:G:A p.(Lys1692=) NC_000016.10:30983974:G:A Identity +NM_024496.4:c.2001G>C NP_078772.1:p.Pro667= NC_000014.9:77025791:C:G p.(Pro667=) NC_000014.9:77025791:C:G p.(Pro667=) NC_000014.9:77025791:C:G Identity +NM_001174116.3:c.402G>A NP_001167587.1:p.Leu134= NC_000015.10:51564222:C:T p.(Leu134=) NC_000015.10:51564222:C:T p.(Leu134=) NC_000015.10:51564222:C:T Identity +NM_032119.4:c.15820T>C NP_115495.3:p.Leu5274= NC_000005.10:90811079:T:C p.(Leu5274=) NC_000005.10:90811079:T:C p.(Leu5274=) NC_000005.10:90811079:T:C Identity +NM_018406.7:c.10116T>A NP_060876.5:p.Gly3372= NC_000003.12:195781463:A:T p.(Gly3372=) NC_000003.12:195781463:A:T p.(Gly3372=) NC_000003.12:195781463:A:T Identity +NM_001135805.2:c.939G>A NP_001129277.1:p.Val313= NC_000012.12:79444082:G:A p.(Val313=) NC_000012.12:79444082:G:A p.(Val313=) NC_000012.12:79444082:G:A Identity +NM_001256850.1:c.17677del NP_001243779.1:p.Glu5892_Val5893insTer NC_000002.12:178729527:CC:C p.(Val5893Ter) NC_000002.12:178729527:CC:C p.(Val5893Ter) NC_000002.12:178729527:C: Analogous +NM_000038.6:c.2514A>G NP_000029.2:p.Arg838= NC_000005.10:112838107:A:G p.(Arg838=) NC_000005.10:112838107:A:G p.(Arg838=) NC_000005.10:112838107:A:G Identity +NM_001032393.3:c.222C>T NP_001027565.1:p.Asp74= NC_000023.11:101412209:C:T p.(Asp74=) NC_000023.11:101412209:C:T p.(Asp74=) NC_000023.11:101412209:C:T Identity +NM_001204087.2:c.681C>T NP_001191016.1:p.Asn227= NC_000001.11:154869283:G:A p.(Asn227=) NC_000001.11:154869283:G:A p.(Asn227=) NC_000001.11:154869283:G:A Identity +NM_000081.4:c.4624C>T NP_000072.2:p.Leu1542= NC_000001.11:235788764:G:A p.(Leu1542=) NC_000001.11:235788764:G:A p.(Leu1542=) NC_000001.11:235788764:G:A Identity +NM_001286974.2:c.522T>C NP_001273903.1:p.Val174= NC_000009.12:108990842:A:G p.(Val174=) NC_000009.12:108990842:A:G p.(Val174=) NC_000009.12:108990842:A:G Identity +NM_005559.4:c.300T>C NP_005550.2:p.Asn100= NC_000018.10:7080019:A:G p.(Asn100=) NC_000018.10:7080019:A:G p.(Asn100=) NC_000018.10:7080019:A:G Identity +NM_000378.6:c.839_850del NP_000369.4:p.Asp280_Thr283del NC_000011.10:32427992:CGGTGCAGCTGTCGGTG:CGGTG p.(Asp280_Thr283del) NC_000011.10:32427992:CGGTGCAGCTGTCGGTG:CGGTG p.(Asp280_Thr283del) NC_000011.10:32427992:CGGTGCAGCTGT: Identity +NM_178019.3:c.30G>C NP_821138.1:p.Ser10= NC_000005.10:134968020:G:C p.(Ser10=) NC_000005.10:134968020:G:C p.(Ser10=) NC_000005.10:134968020:G:C Identity +NM_003183.6:c.46C>T NP_003174.3:p.Leu16= NC_000002.12:9555559:G:A p.(Leu16=) NC_000002.12:9555559:G:A p.(Leu16=) NC_000002.12:9555559:G:A Identity +NM_001300781.2:c.390G>A NP_001287710.1:p.Ala130= NC_000004.12:185020432:G:A p.(Ala130=) NC_000004.12:185020432:G:A p.(Ala130=) NC_000004.12:185020432:G:A Identity +NM_001308133.2:c.3771A>G NP_001295062.1:p.Arg1257= NC_000014.9:45176602:A:G p.(Arg1257=) NC_000014.9:45176602:A:G p.(Arg1257=) NC_000014.9:45176602:A:G Identity +NM_182628.3:c.537G>A NP_872434.2:p.Ala179= NC_000003.12:126418660:G:A p.(Ala179=) NC_000003.12:126418660:G:A p.(Ala179=) NC_000003.12:126418660:G:A Identity +NM_001271765.2:c.852C>T NP_001258694.1:p.Asn284= NC_000017.11:75100514:C:T p.(Asn284=) NC_000017.11:75100514:C:T p.(Asn284=) NC_000017.11:75100514:C:T Identity +NM_021942.6:c.411G>A NP_068761.4:p.Val137= NC_000004.12:183667095:G:A p.(Val137=) NC_000004.12:183667095:G:A p.(Val137=) NC_000004.12:183667095:G:A Identity +NM_000296.4:c.4620C>G NP_000287.4:p.Leu1540= NC_000016.10:2110546:G:C p.(Leu1540=) NC_000016.10:2110546:G:C p.(Leu1540=) NC_000016.10:2110546:G:C Identity +NM_001130438.3:c.6843C>T NP_001123910.1:p.Leu2281= NC_000009.12:128632206:C:T p.(Leu2281=) NC_000009.12:128632206:C:T p.(Leu2281=) NC_000009.12:128632206:C:T Identity +NM_001130438.3:c.6237C>T NP_001123910.1:p.Ala2079= NC_000009.12:128625935:C:T p.(Ala2079=) NC_000009.12:128625935:C:T p.(Ala2079=) NC_000009.12:128625935:C:T Identity +NM_015335.5:c.3108A>T NP_056150.1:p.Gly1036= NC_000012.12:115991845:T:A p.(Gly1036=) NC_000012.12:115991845:T:A p.(Gly1036=) NC_000012.12:115991845:T:A Identity +NM_001130438.3:c.1302C>G NP_001123910.1:p.Ala434= NC_000009.12:128579716:C:G p.(Ala434=) NC_000009.12:128579716:C:G p.(Ala434=) NC_000009.12:128579716:C:G Identity +NM_001130438.3:c.7383C>T NP_001123910.1:p.Leu2461= NC_000009.12:128633282:C:T p.(Leu2461=) NC_000009.12:128633282:C:T p.(Leu2461=) NC_000009.12:128633282:C:T Identity +NM_001316327.2:c.1515C>G NP_001303256.1:p.Ala505= NC_000003.12:53188818:C:G p.(Ala505=) NC_000003.12:53188818:C:G p.(Ala505=) NC_000003.12:53188818:C:G Identity +NM_001130438.3:c.3417C>T NP_001123910.1:p.Asp1139= NC_000009.12:128598401:C:T p.(Asp1139=) NC_000009.12:128598401:C:T p.(Asp1139=) NC_000009.12:128598401:C:T Identity +NM_001291746.2:c.792G>A NP_001278675.1:p.Arg264= NC_000002.12:60918544:G:A p.(Arg264=) NC_000002.12:60918544:G:A p.(Arg264=) NC_000002.12:60918544:G:A Identity +NM_015335.5:c.5121C>T NP_056150.1:p.Tyr1707= NC_000012.12:115982437:G:A p.(Tyr1707=) NC_000012.12:115982437:G:A p.(Tyr1707=) NC_000012.12:115982437:G:A Identity +NM_001411127.1:c.2178C>T NP_001398056.1:p.Leu726= NC_000019.10:40396458:G:A p.(Leu726=) NC_000019.10:40396458:G:A p.(Leu726=) NC_000019.10:40396458:G:A Identity +NM_001005505.3:c.765A>G NP_001005505.1:p.Gly255= NC_000003.12:50381013:T:C p.(Gly255=) NC_000003.12:50381013:T:C p.(Gly255=) NC_000003.12:50381013:T:C Identity +NM_021072.4:c.1857C>T NP_066550.2:p.Asn619= NC_000005.10:45262736:G:A p.(Asn619=) NC_000005.10:45262736:G:A p.(Asn619=) NC_000005.10:45262736:G:A Identity +NM_001177984.3:c.3612C>T NP_001171455.1:p.Ile1204= NC_000012.12:51770649:C:T p.(Ile1204=) NC_000012.12:51770649:C:T p.(Ile1204=) NC_000012.12:51770649:C:T Identity +NM_001411054.1:c.939G>A NP_001397983.1:p.Ala313= NC_000014.9:102980973:C:T p.(Ala313=) NC_000014.9:102980973:C:T p.(Ala313=) NC_000014.9:102980973:C:T Identity +NM_001378891.1:c.5730C>T NP_001365820.1:p.Ala1910= NC_000006.12:117321293:G:A p.(Ala1910=) NC_000006.12:117321293:G:A p.(Ala1910=) NC_000006.12:117321293:G:A Identity +NM_018963.5:c.1191T>C NP_061836.2:p.Phe397= NC_000021.9:39274426:A:G p.(Phe397=) NC_000021.9:39274426:A:G p.(Phe397=) NC_000021.9:39274426:A:G Identity +NM_001411054.1:c.3282C>T NP_001397983.1:p.Val1094= NC_000014.9:102949853:G:A p.(Val1094=) NC_000014.9:102949853:G:A p.(Val1094=) NC_000014.9:102949853:G:A Identity +NM_001198815.1:c.1302G>A NP_001185744.1:p.Ser434= NC_000006.12:31026732:G:A p.(Ser434=) NC_000006.12:31026732:G:A p.(Ser434=) NC_000006.12:31026732:G:A Identity +NM_001289095.2:c.267T>C NP_001276024.1:p.Asn89= NC_000003.12:58382629:T:C p.(Asn89=) NC_000003.12:58382629:T:C p.(Asn89=) NC_000003.12:58382629:T:C Identity +NM_002458.3:c.13137G>A NP_002449.2:p.Thr4379= NC_000011.10:1250016:G:A p.(Thr4379=) NC_000011.10:1250016:G:A p.(Thr4379=) NC_000011.10:1250016:G:A Identity +NM_013291.3:c.1314G>A NP_037423.2:p.Pro438= NC_000008.11:144399353:C:T p.(Pro438=) NC_000008.11:144399353:C:T p.(Pro438=) NC_000008.11:144399353:C:T Identity +NM_001009610.2:c.1464G>A NP_001009610.1:p.Pro488= NC_000010.11:87365148:G:A p.(Pro488=) NC_000010.11:87365148:G:A p.(Pro488=) NC_000010.11:87365148:G:A Identity +NM_001388492.1:c.54GCA[14] NP_001375421.1:p.Gln34_Gln38del NC_000004.12:3074876:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA p.(Gln34_Gln38del) NC_000004.12:3074878:G:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ERR:Parse ERR:Parse Identity +NM_001396004.1:c.2748G>A NP_001382933.1:p.Gly916= NC_000019.10:41907358:G:A p.(Gly916=) NC_000019.10:41907358:G:A p.(Gly916=) NC_000019.10:41907358:G:A Identity +NM_016604.4:c.3003C>T NP_057688.3:p.Leu1001= NC_000005.10:138398348:C:T p.(Leu1001=) NC_000005.10:138398348:C:T p.(Leu1001=) NC_000005.10:138398348:C:T Identity +NM_002732.4:c.690T>C NP_002723.2:p.Tyr230= NC_000009.12:69013402:A:G p.(Tyr230=) NC_000009.12:69013402:A:G p.(Tyr230=) NC_000009.12:69013402:A:G Identity +NM_001081450.3:c.411G>A NP_001074919.2:p.Gly137= NC_000019.10:54222074:C:T p.(Gly137=) NC_000019.10:54222074:C:T p.(Gly137=) NC_000019.10:54222074:C:T Identity +NM_021968.4:c.153C>T NP_068803.1:p.Ile51= NC_000006.12:27824276:C:T p.(Ile51=) NC_000006.12:27824276:C:T p.(Ile51=) NC_000006.12:27824276:C:T Identity +NM_001144769.5:c.369C>G NP_001138241.1:p.Val123= NC_000006.12:56900468:G:C p.(Val123=) NC_000006.12:56900468:G:C p.(Val123=) NC_000006.12:56900468:G:C Identity +NM_001258403.2:c.2109C>T NP_001245332.1:p.His703= NC_000012.12:51480086:C:T p.(His703=) NC_000012.12:51480086:C:T p.(His703=) NC_000012.12:51480086:C:T Identity +NM_001171162.1:c.1575C>T NP_001164633.1:p.Ser525= NC_000023.11:71249064:G:A p.(Ser525=) NC_000023.11:71249064:G:A p.(Ser525=) NC_000023.11:71249064:G:A Identity +NM_022834.5:c.1080G>A NP_073745.2:p.Ala360= NC_000001.11:1439528:G:A p.(Ala360=) NC_000001.11:1439528:G:A p.(Ala360=) NC_000001.11:1439528:G:A Identity +NM_001101421.4:c.909C>T NP_001094891.4:p.Asp303= NC_000012.12:109405980:C:T p.(Asp303=) NC_000012.12:109405980:C:T p.(Asp303=) NC_000012.12:109405980:C:T Identity +NM_001145923.2:c.1470A>G NP_001139395.1:p.Gln490= NC_000015.10:76705941:T:C p.(Gln490=) NC_000015.10:76705941:T:C p.(Gln490=) NC_000015.10:76705941:T:C Identity +NM_001371271.1:c.801G>C NP_001358200.1:p.Ser267= NC_000002.12:120968870:G:C p.(Ser267=) NC_000002.12:120968870:G:C p.(Ser267=) NC_000002.12:120968870:G:C Identity +NM_001256456.2:c.1560C>T NP_001243385.1:p.Arg520= NC_000001.11:1312290:G:A p.(Arg520=) NC_000001.11:1312290:G:A p.(Arg520=) NC_000001.11:1312290:G:A Identity +NM_006796.3:c.1701G>A NP_006787.2:p.Glu567= NC_000018.10:12344209:C:T p.(Glu567=) NC_000018.10:12344209:C:T p.(Glu567=) NC_000018.10:12344209:C:T Identity +NM_177400.3:c.399T>G NP_796374.2:p.Ala133= NC_000010.11:132785549:A:C p.(Ala133=) NC_000010.11:132785549:A:C p.(Ala133=) NC_000010.11:132785549:A:C Identity +NM_006237.4:c.861C>A NP_006228.3:p.Ala287= NC_000013.11:78601813:G:T p.(Ala287=) NC_000013.11:78601813:G:T p.(Ala287=) NC_000013.11:78601813:G:T Identity +NM_003754.3:c.372C>T NP_003745.1:p.Val124= NC_000011.10:7991787:C:T p.(Val124=) NC_000011.10:7991787:C:T p.(Val124=) NC_000011.10:7991787:C:T Identity +NM_001366177.2:c.4086A>G NP_001353106.1:p.Glu1362= NC_000001.11:155478783:T:C p.(Glu1362=) NC_000001.11:155478783:T:C p.(Glu1362=) NC_000001.11:155478783:T:C Identity +NM_016333.4:c.7071C>T NP_057417.3:p.Thr2357= NC_000016.10:2767598:C:T p.(Thr2357=) NC_000016.10:2767598:C:T p.(Thr2357=) NC_000016.10:2767598:C:T Identity +NM_001242648.4:c.408G>A NP_001229577.1:p.Thr136= NC_000006.12:13053521:G:A p.(Thr136=) NC_000006.12:13053521:G:A p.(Thr136=) NC_000006.12:13053521:G:A Identity +NM_000283.4:c.330T>C NP_000274.3:p.Leu110= NC_000004.12:625955:T:C p.(Leu110=) NC_000004.12:625955:T:C p.(Leu110=) NC_000004.12:625955:T:C Identity +NM_001394062.1:c.8370A>G NP_001380991.1:p.Gly2790= NC_000001.11:39334957:A:G p.(Gly2790=) NC_000001.11:39334957:A:G p.(Gly2790=) NC_000001.11:39334957:A:G Identity +NM_001164539.2:c.2022A>G NP_001158011.1:p.Val674= NC_000001.11:231854778:A:G p.(Val674=) NC_000001.11:231854778:A:G p.(Val674=) NC_000001.11:231854778:A:G Identity +NM_005324.5:c.270C>T NP_005315.1:p.Ile90= NC_000017.11:75778821:G:A p.(Ile90=) NC_000017.11:75778821:G:A p.(Ile90=) NC_000017.11:75778821:G:A Identity +NM_001350317.3:c.1515C>T NP_001337246.1:p.His505= NC_000022.11:50031925:G:A p.(His505=) NC_000022.11:50031925:G:A p.(His505=) NC_000022.11:50031925:G:A Identity +NM_198578.4:c.4428G>A NP_940980.4:p.Lys1476= NC_000012.12:40310540:G:A p.(Lys1476=) NC_000012.12:40310540:G:A p.(Lys1476=) NC_000012.12:40310540:G:A Identity +NM_016239.4:c.9303G>A NP_057323.3:p.Lys3101= NC_000017.11:18159678:G:A p.(Lys3101=) NC_000017.11:18159678:G:A p.(Lys3101=) NC_000017.11:18159678:G:A Identity +NM_174978.3:c.1575G>A NP_777638.3:p.Glu525= NC_000014.9:60437033:C:T p.(Glu525=) NC_000014.9:60437033:C:T p.(Glu525=) NC_000014.9:60437033:C:T Identity +NM_001171087.3:c.2313C>T NP_001164558.1:p.Cys771= NC_000003.12:184352063:G:A p.(Cys771=) NC_000003.12:184352063:G:A p.(Cys771=) NC_000003.12:184352063:G:A Identity +NM_020959.3:c.3627C>G NP_066010.1:p.Leu1209= NC_000019.10:17323588:G:C p.(Leu1209=) NC_000019.10:17323588:G:C p.(Leu1209=) NC_000019.10:17323588:G:C Identity +NM_003126.4:c.696A>T NP_003117.2:p.Leu232= NC_000001.11:158678516:T:A p.(Leu232=) NC_000001.11:158678516:T:A p.(Leu232=) NC_000001.11:158678516:T:A Identity +NM_001308133.2:c.318T>C NP_001295062.1:p.Asn106= NC_000014.9:45136348:T:C p.(Asn106=) NC_000014.9:45136348:T:C p.(Asn106=) NC_000014.9:45136348:T:C Identity +NM_007113.4:c.843G>A NP_009044.2:p.Leu281= NC_000001.11:152112373:C:T p.(Leu281=) NC_000001.11:152112373:C:T p.(Leu281=) NC_000001.11:152112373:C:T Identity +NM_000188.3:c.1368G>A NP_000179.2:p.Val456= NC_000010.11:69382588:G:A p.(Val456=) NC_000010.11:69382588:G:A p.(Val456=) NC_000010.11:69382588:G:A Identity +NM_001101362.3:c.816C>T NP_001094832.1:p.Ile272= NC_000015.10:65077630:C:T p.(Ile272=) NC_000015.10:65077630:C:T p.(Ile272=) NC_000015.10:65077630:C:T Identity +NM_006895.3:c.267G>A NP_008826.1:p.Glu89= NC_000002.12:138000993:G:A p.(Glu89=) NC_000002.12:138000993:G:A p.(Glu89=) NC_000002.12:138000993:G:A Identity +NM_015509.4:c.792C>T NP_056324.2:p.Asn264= NC_000012.12:8096053:C:T p.(Asn264=) NC_000012.12:8096053:C:T p.(Asn264=) NC_000012.12:8096053:C:T Identity +NM_000068.4:c.6334C>A NP_000059.3:p.Arg2112= NC_000019.10:13210639:G:T p.(Arg2112=) NC_000019.10:13210639:G:T p.(Arg2112=) NC_000019.10:13210639:G:T Identity +NM_001451.3:c.399G>A NP_001442.2:p.Glu133= NC_000016.10:86510967:G:A p.(Glu133=) NC_000016.10:86510967:G:A p.(Glu133=) NC_000016.10:86510967:G:A Identity +NM_001807.6:c.1980G>C NP_001798.3:p.Pro660= NC_000009.12:133071481:G:C p.(Pro660=) NC_000009.12:133071481:G:C p.(Pro660=) NC_000009.12:133071481:G:C Identity +NM_001141973.3:c.792C>T NP_001135445.1:p.Ile264= NC_000001.11:17000432:G:A p.(Ile264=) NC_000001.11:17000432:G:A p.(Ile264=) NC_000001.11:17000432:G:A Identity +NM_001301849.2:c.150C>T NP_001288778.1:p.Ala50= NC_000022.11:40404427:C:T p.(Ala50=) NC_000022.11:40404427:C:T p.(Ala50=) NC_000022.11:40404427:C:T Identity +NM_001318792.1:c.2433C>T NP_001305721.1:p.Asp811= NC_000006.12:44154816:C:T p.(Asp811=) NC_000006.12:44154816:C:T p.(Asp811=) NC_000006.12:44154816:C:T Identity +NM_001384475.1:c.5832G>T NP_001371404.1:p.Val1944= NC_000018.10:75063552:G:T p.(Val1944=) NC_000018.10:75063552:G:T p.(Val1944=) NC_000018.10:75063552:G:T Identity +NM_012334.3:c.2538C>T NP_036466.2:p.Ala846= NC_000005.10:16702560:G:A p.(Ala846=) NC_000005.10:16702560:G:A p.(Ala846=) NC_000005.10:16702560:G:A Identity +NM_001363349.1:c.3564G>A NP_001350278.1:p.Ser1188= NC_000007.14:117735338:C:T p.(Ser1188=) NC_000007.14:117735338:C:T p.(Ser1188=) NC_000007.14:117735338:C:T Identity +NM_001199984.2:c.18C>G NP_001186913.1:p.Ser6= NC_000002.12:206159115:G:C p.(Ser6=) NC_000002.12:206159115:G:C p.(Ser6=) NC_000002.12:206159115:G:C Identity +NM_001145415.2:c.1659C>A NP_001138887.1:p.Gly553= NC_000001.11:150950535:C:A p.(Gly553=) NC_000001.11:150950535:C:A p.(Gly553=) NC_000001.11:150950535:C:A Identity +NM_004557.4:c.1044C>T NP_004548.3:p.Gly348= NC_000006.12:32220519:G:A p.(Gly348=) NC_000006.12:32220519:G:A p.(Gly348=) NC_000006.12:32220519:G:A Identity +NM_001270974.2:c.10392C>T NP_001257903.1:p.Leu3464= NC_000016.10:70879461:G:A p.(Leu3464=) NC_000016.10:70879461:G:A p.(Leu3464=) NC_000016.10:70879461:G:A Identity +NM_001323374.2:c.1191G>T NP_001310303.1:p.Val397= NC_000005.10:111484234:G:T p.(Val397=) NC_000005.10:111484234:G:T p.(Val397=) NC_000005.10:111484234:G:T Identity +NM_001185077.3:c.321T>C NP_001172006.1:p.Gly107= NC_000017.11:81869359:A:G p.(Gly107=) NC_000017.11:81869359:A:G p.(Gly107=) NC_000017.11:81869359:A:G Identity +NM_001282309.3:c.852G>A NP_001269238.1:p.Pro284= NC_000015.10:43636209:C:T p.(Pro284=) NC_000015.10:43636209:C:T p.(Pro284=) NC_000015.10:43636209:C:T Identity +NM_001145845.2:c.3657C>T NP_001139317.1:p.Val1219= NC_000003.12:78617959:G:A p.(Val1219=) NC_000003.12:78617959:G:A p.(Val1219=) NC_000003.12:78617959:G:A Identity +NM_001281932.2:c.2655G>C NP_001268861.1:p.Leu885= NC_000007.14:158654685:C:G p.(Leu885=) NC_000007.14:158654685:C:G p.(Leu885=) NC_000007.14:158654685:C:G Identity +NM_001329605.2:c.420G>A NP_001316534.1:p.Thr140= NC_000015.10:64216585:C:T p.(Thr140=) NC_000015.10:64216585:C:T p.(Thr140=) NC_000015.10:64216585:C:T Identity +NM_153252.5:c.894T>C NP_694984.5:p.His298= NC_000023.11:80736007:A:G p.(His298=) NC_000023.11:80736007:A:G p.(His298=) NC_000023.11:80736007:A:G Identity +NM_000298.6:c.1482T>C NP_000289.1:p.Ile494= NC_000001.11:155291891:A:G p.(Ile494=) NC_000001.11:155291891:A:G p.(Ile494=) NC_000001.11:155291891:A:G Identity +NM_003737.4:c.1953A>T NP_003728.1:p.Ser651= NC_000011.10:6634150:T:A p.(Ser651=) NC_000011.10:6634150:T:A p.(Ser651=) NC_000011.10:6634150:T:A Identity +NM_002458.3:c.8553G>A NP_002449.2:p.Ser2851= NC_000011.10:1245432:G:A p.(Ser2851=) NC_000011.10:1245432:G:A p.(Ser2851=) NC_000011.10:1245432:G:A Identity +NM_033215.5:c.18T>C NP_149992.3:p.Pro6= NC_000023.11:49269886:T:C p.(Pro6=) NC_000023.11:49269886:T:C p.(Pro6=) NC_000023.11:49269886:T:C Identity +NM_001999.4:c.7221G>A NP_001990.2:p.Lys2407= NC_000005.10:128278758:C:T p.(Lys2407=) NC_000005.10:128278758:C:T p.(Lys2407=) NC_000005.10:128278758:C:T Identity +NM_001136540.2:c.1164_1169del NP_001130012.1:p.Asn388_Tyr389del NC_000022.11:36265995:ATAATTATAA:ATAA p.(Asn388_Tyr389del) NC_000022.11:36265995:ATAATTATAA:ATAA p.(Asn388_Tyr389del) NC_000022.11:36265999:TTATAA: Identity +NM_000518.5:c.324C>T NP_000509.1:p.Gly108= NC_000011.10:5225717:G:A p.(Gly108=) NC_000011.10:5225717:G:A p.(Gly108=) NC_000011.10:5225717:G:A Identity +NM_001407986.1:c.463_464CT[2] NP_001394915.1:p.Ser156Terfs NC_000017.11:43099850:AGAGAG:AGAG p.(Ser156Ter) NC_000017.11:43099854:AG:AGAG ERR:Parse ERR:Parse Analogous +NM_000249.4:c.1748_1749del NP_000240.1:p.Leu582_Phe583insTer NC_000003.12:37047533:TTT:T p.(Phe583Ter) NC_000003.12:37047533:TTT:T p.(Phe583Ter) NC_000003.12:37047534:TT: Analogous +NM_003482.4:c.11202GCA[8] NP_003473.3:p.Gln3745dup NC_000012.12:49033482:TGCTGCTGCTGCTGCTGCTGC:TGCTGCTGCTGCTGCTGCTGCTGC p.(Gln3745dup) NC_000012.12:49033502:C:TGCTGCTGCTGCTGCTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_002354.3:c.597T>C NP_002345.2:p.Ser199= NC_000002.12:47378993:T:C p.(Ser199=) NC_000002.12:47378993:T:C p.(Ser199=) NC_000002.12:47378993:T:C Identity +NM_133378.4:c.56622G>A NP_596869.4:p.Ala18874= NC_000002.12:178586574:C:T p.(Ala18874=) NC_000002.12:178586574:C:T p.(Ala18874=) NC_000002.12:178586574:C:T Identity +NM_133378.4:c.83622A>G NP_596869.4:p.Lys27874= NC_000002.12:178551204:T:C p.(Lys27874=) NC_000002.12:178551204:T:C p.(Lys27874=) NC_000002.12:178551204:T:C Identity +NM_001386339.1:c.777G>A NP_001373268.1:p.Pro259= NC_000011.10:10000997:C:T p.(Pro259=) NC_000011.10:10000997:C:T p.(Pro259=) NC_000011.10:10000997:C:T Identity +NM_001146006.2:c.360C>T NP_001139478.1:p.Asp120= NC_000016.10:1792171:G:A p.(Asp120=) NC_000016.10:1792171:G:A p.(Asp120=) NC_000016.10:1792171:G:A Identity +NM_001382394.1:c.777A>C NP_001369323.1:p.Thr259= NC_000002.12:39051209:T:G p.(Thr259=) NC_000002.12:39051209:T:G p.(Thr259=) NC_000002.12:39051209:T:G Identity +LRG_1372t1:c.141A>G LRG_1372p1:p.Pro47= NC_000001.11:155910471:T:C ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found +NM_001256850.1:c.102258C>T NP_001243779.1:p.Gly34086= NC_000002.12:178528569:G:A p.(Gly34086=) NC_000002.12:178528569:G:A p.(Gly34086=) NC_000002.12:178528569:G:A Identity +NM_001256850.1:c.543C>T NP_001243779.1:p.Ser181= NC_000002.12:178800434:G:A p.(Ser181=) NC_000002.12:178800434:G:A p.(Ser181=) NC_000002.12:178800434:G:A Identity +NM_004360.5:c.1221A>C NP_004351.1:p.Pro407= NC_000016.10:68813395:A:C p.(Pro407=) NC_000016.10:68813395:A:C p.(Pro407=) NC_000016.10:68813395:A:C Identity +NM_000251.3:c.1034_1045del NP_000242.1:p.Trp345_Pro349delinsSer NC_000002.12:47416386:GGATTAAGCAGC: p.(Trp345_Pro349delinsSer) NC_000002.12:47416386:GGATTAAGCAGC: p.(Trp345_Pro349delinsSer) NC_000002.12:47416386:GGATTAAGCAGC: Identity +NM_001407953.1:c.3681G>A NP_001394882.1:p.Lys1227= NC_000017.11:43091516:C:T p.(Lys1227=) NC_000017.11:43091516:C:T p.(Lys1227=) NC_000017.11:43091516:C:T Identity +NM_024675.4:c.2340C>G NP_078951.2:p.Gly780= NC_000016.10:23629813:G:C p.(Gly780=) NC_000016.10:23629813:G:C p.(Gly780=) NC_000016.10:23629813:G:C Identity +NM_016938.5:c.756C>T NP_058634.4:p.Tyr252= NC_000011.10:65868600:G:A p.(Tyr252=) NC_000011.10:65868600:G:A p.(Tyr252=) NC_000011.10:65868600:G:A Identity +NM_000243.3:c.972C>T NP_000234.1:p.Asp324= NC_000016.10:3249718:G:A p.(Asp324=) NC_000016.10:3249718:G:A p.(Asp324=) NC_000016.10:3249718:G:A Identity +NM_012203.2:c.456G>A NP_036335.1:p.Thr152= NC_000009.12:37428534:G:A p.(Thr152=) NC_000009.12:37428534:G:A p.(Thr152=) NC_000009.12:37428534:G:A Identity +NM_000038.6:c.7401A>G NP_000029.2:p.Pro2467= NC_000005.10:112842994:A:G p.(Pro2467=) NC_000005.10:112842994:A:G p.(Pro2467=) NC_000005.10:112842994:A:G Identity +NM_000135.4:c.2803C>T NP_000126.2:p.Leu935= NC_000016.10:89761997:G:A p.(Leu935=) NC_000016.10:89761997:G:A p.(Leu935=) NC_000016.10:89761997:G:A Identity +NM_005120.3:c.6465C>T NP_005111.2:p.Val2155= NC_000023.11:71141938:C:T p.(Val2155=) NC_000023.11:71141938:C:T p.(Val2155=) NC_000023.11:71141938:C:T Identity +NM_000244.4:c.921C>T NP_000235.3:p.Tyr307= NC_000011.10:64807016:G:A p.(Tyr307=) NC_000011.10:64807016:G:A p.(Tyr307=) NC_000011.10:64807016:G:A Identity +NM_001283009.2:c.2871G>A NP_001269938.1:p.Arg957= NC_000020.11:63693161:G:A p.(Arg957=) NC_000020.11:63693161:G:A p.(Arg957=) NC_000020.11:63693161:G:A Identity +NM_001283009.2:c.384C>T NP_001269938.1:p.Asn128= NC_000020.11:63661931:C:T p.(Asn128=) NC_000020.11:63661931:C:T p.(Asn128=) NC_000020.11:63661931:C:T Identity +NM_001352773.2:c.195G>T NP_001339702.1:p.Val65= NC_000017.11:41771659:C:A p.(Val65=) NC_000017.11:41771659:C:A p.(Val65=) NC_000017.11:41771659:C:A Identity +NM_000214.3:c.303C>T NP_000205.1:p.Val101= NC_000020.11:10672784:G:A p.(Val101=) NC_000020.11:10672784:G:A p.(Val101=) NC_000020.11:10672784:G:A Identity +NM_001127493.3:c.249A>G NP_001120965.1:p.Ala83= NC_000004.12:113199036:A:G p.(Ala83=) NC_000004.12:113199036:A:G p.(Ala83=) NC_000004.12:113199036:A:G Identity +NM_001040113.2:c.5451C>T NP_001035202.1:p.Ser1817= NC_000016.10:15717213:G:A p.(Ser1817=) NC_000016.10:15717213:G:A p.(Ser1817=) NC_000016.10:15717213:G:A Identity +NM_000384.3:c.4734T>C NP_000375.3:p.Tyr1578= NC_000002.12:21012133:A:G p.(Tyr1578=) NC_000002.12:21012133:A:G p.(Tyr1578=) NC_000002.12:21012133:A:G Identity +NM_000090.4:c.1536A>C NP_000081.2:p.Pro512= NC_000002.12:188995717:A:C p.(Pro512=) NC_000002.12:188995717:A:C p.(Pro512=) NC_000002.12:188995717:A:C Identity +NM_001351059.2:c.349C>T NP_001337988.1:p.Leu117= NC_000011.10:68047509:C:T p.(Leu117=) NC_000011.10:68047509:C:T p.(Leu117=) NC_000011.10:68047509:C:T Identity +NM_001256850.1:c.64584C>T NP_001243779.1:p.Ser21528= NC_000002.12:178576736:G:A p.(Ser21528=) NC_000002.12:178576736:G:A p.(Ser21528=) NC_000002.12:178576736:G:A Identity +NM_001128844.3:c.4455C>T NP_001122316.1:p.Phe1485= NC_000019.10:11058284:C:T p.(Phe1485=) NC_000019.10:11058284:C:T p.(Phe1485=) NC_000019.10:11058284:C:T Identity +NM_004629.2:c.124T>C NP_004620.1:p.Leu42= NC_000009.12:35079201:A:G p.(Leu42=) NC_000009.12:35079201:A:G p.(Leu42=) NC_000009.12:35079201:A:G Identity +NM_001290307.3:c.63G>A NP_001277236.1:p.Arg21= NC_000005.10:138781986:G:A p.(Arg21=) NC_000005.10:138781986:G:A p.(Arg21=) NC_000005.10:138781986:G:A Identity +NM_006231.4:c.3186G>A NP_006222.2:p.Glu1062= NC_000012.12:132659383:C:T p.(Glu1062=) NC_000012.12:132659383:C:T p.(Glu1062=) NC_000012.12:132659383:C:T Identity +NM_001256850.1:c.53430T>A NP_001243779.1:p.Arg17810= NC_000002.12:178594039:A:T p.(Arg17810=) NC_000002.12:178594039:A:T p.(Arg17810=) NC_000002.12:178594039:A:T Identity +NM_001128844.3:c.399A>G NP_001122316.1:p.Pro133= NC_000019.10:10986231:A:G p.(Pro133=) NC_000019.10:10986231:A:G p.(Pro133=) NC_000019.10:10986231:A:G Identity +NM_001110556.2:c.3966G>A NP_001104026.1:p.Thr1322= NC_000023.11:154359744:C:T p.(Thr1322=) NC_000023.11:154359744:C:T p.(Thr1322=) NC_000023.11:154359744:C:T Identity +NM_032119.4:c.11907A>G NP_115495.3:p.Pro3969= NC_000005.10:90757127:A:G p.(Pro3969=) NC_000005.10:90757127:A:G p.(Pro3969=) NC_000005.10:90757127:A:G Identity +NM_001323993.1:c.1530C>A NP_001310922.1:p.Thr510= NC_000005.10:138934007:C:A p.(Thr510=) NC_000005.10:138934007:C:A p.(Thr510=) NC_000005.10:138934007:C:A Identity +NM_001256850.1:c.15030C>T NP_001243779.1:p.Asp5010= NC_000002.12:178733311:G:A p.(Asp5010=) NC_000002.12:178733311:G:A p.(Asp5010=) NC_000002.12:178733311:G:A Identity +NM_001283009.2:c.3237C>T NP_001269938.1:p.Leu1079= NC_000020.11:63694867:C:T p.(Leu1079=) NC_000020.11:63694867:C:T p.(Leu1079=) NC_000020.11:63694867:C:T Identity +NM_006231.4:c.3240C>T NP_006222.2:p.Ile1080= NC_000012.12:132659329:G:A p.(Ile1080=) NC_000012.12:132659329:G:A p.(Ile1080=) NC_000012.12:132659329:G:A Identity +NM_000135.4:c.2034A>G NP_000126.2:p.Ala678= NC_000016.10:89771794:T:C p.(Ala678=) NC_000016.10:89771794:T:C p.(Ala678=) NC_000016.10:89771794:T:C Identity +NM_130468.4:c.45C>G NP_569735.1:p.Ala15= NC_000015.10:40471257:C:G p.(Ala15=) NC_000015.10:40471257:C:G p.(Ala15=) NC_000015.10:40471257:C:G Identity +NM_001256850.1:c.38814C>G NP_001243779.1:p.Leu12938= NC_000002.12:178632156:G:C p.(Leu12938=) NC_000002.12:178632156:G:C p.(Leu12938=) NC_000002.12:178632156:G:C Identity +NM_000548.5:c.2019G>T NP_000539.2:p.Ala673= NC_000016.10:2071855:G:T p.(Ala673=) NC_000016.10:2071855:G:T p.(Ala673=) NC_000016.10:2071855:G:T Identity +NM_001001890.3:c.741A>G NP_001001890.1:p.Gln247= NC_000021.9:34799445:T:C p.(Gln247=) NC_000021.9:34799445:T:C p.(Gln247=) NC_000021.9:34799445:T:C Identity +NM_001256850.1:c.43179A>G NP_001243779.1:p.Thr14393= NC_000002.12:178616786:T:C p.(Thr14393=) NC_000002.12:178616786:T:C p.(Thr14393=) NC_000002.12:178616786:T:C Identity +NM_001130009.3:c.486G>A NP_001123481.3:p.Gly162= NC_000002.12:17765033:G:A p.(Gly162=) NC_000002.12:17765033:G:A p.(Gly162=) NC_000002.12:17765033:G:A Identity +NM_001308133.2:c.3072A>G NP_001295062.1:p.Glu1024= NC_000014.9:45175903:A:G p.(Glu1024=) NC_000014.9:45175903:A:G p.(Glu1024=) NC_000014.9:45175903:A:G Identity +NM_005120.3:c.3069C>T NP_005111.2:p.Ile1023= NC_000023.11:71127979:C:T p.(Ile1023=) NC_000023.11:71127979:C:T p.(Ile1023=) NC_000023.11:71127979:C:T Identity +NM_002471.4:c.852C>T NP_002462.2:p.Tyr284= NC_000014.9:23403393:G:A p.(Tyr284=) NC_000014.9:23403393:G:A p.(Tyr284=) NC_000014.9:23403393:G:A Identity +NM_001363813.1:c.1389C>A NP_001350742.1:p.Arg463= NC_000017.11:65537646:G:T p.(Arg463=) NC_000017.11:65537646:G:T p.(Arg463=) NC_000017.11:65537646:G:T Identity +NM_001285829.2:c.90C>T NP_001272758.1:p.Arg30= NC_000019.10:33301967:G:A p.(Arg30=) NC_000019.10:33301967:G:A p.(Arg30=) NC_000019.10:33301967:G:A Identity +NM_001303496.3:c.1524A>G NP_001290425.1:p.Thr508= NC_000007.14:93134447:T:C p.(Thr508=) NC_000007.14:93134447:T:C p.(Thr508=) NC_000007.14:93134447:T:C Identity +NM_025136.4:c.318G>T NP_079412.1:p.Ala106= NC_000019.10:45553735:C:A p.(Ala106=) NC_000019.10:45553735:C:A p.(Ala106=) NC_000019.10:45553735:C:A Identity +NM_001285829.2:c.109C>A NP_001272758.1:p.Arg37= NC_000019.10:33301948:G:T p.(Arg37=) NC_000019.10:33301948:G:T p.(Arg37=) NC_000019.10:33301948:G:T Identity +NM_006767.4:c.1099C>T NP_006758.2:p.Leu367= NC_000022.11:20992318:C:T p.(Leu367=) NC_000022.11:20992318:C:T p.(Leu367=) NC_000022.11:20992318:C:T Identity +NM_000492.4:c.2772C>T NP_000483.3:p.Asp924= NC_000007.14:117603645:C:T p.(Asp924=) NC_000007.14:117603645:C:T p.(Asp924=) NC_000007.14:117603645:C:T Identity +NM_001127487.2:c.2655G>A NP_001120959.1:p.Gly885= NC_000007.14:128843420:G:A p.(Gly885=) NC_000007.14:128843420:G:A p.(Gly885=) NC_000007.14:128843420:G:A Identity +NM_001018837.2:c.321A>G NP_001018238.1:p.Gln107= NC_000001.11:154273921:A:G p.(Gln107=) NC_000001.11:154273921:A:G p.(Gln107=) NC_000001.11:154273921:A:G Identity +NM_001283009.2:c.2562C>T NP_001269938.1:p.His854= NC_000020.11:63691746:C:T p.(His854=) NC_000020.11:63691746:C:T p.(His854=) NC_000020.11:63691746:C:T Identity +NM_001354689.3:c.1860C>T NP_001341618.1:p.Pro620= NC_000003.12:12584849:G:A p.(Pro620=) NC_000003.12:12584849:G:A p.(Pro620=) NC_000003.12:12584849:G:A Identity +NM_025136.4:c.363G>A NP_079412.1:p.Ala121= NC_000019.10:45553690:C:T p.(Ala121=) NC_000019.10:45553690:C:T p.(Ala121=) NC_000019.10:45553690:C:T Identity +NM_001346897.2:c.522C>T NP_001333826.1:p.Cys174= NC_000007.14:55152573:C:T p.(Cys174=) NC_000007.14:55152573:C:T p.(Cys174=) NC_000007.14:55152573:C:T Identity +NM_000135.4:c.3246C>G NP_000126.2:p.Leu1082= NC_000016.10:89748760:G:C p.(Leu1082=) NC_000016.10:89748760:G:C p.(Leu1082=) NC_000016.10:89748760:G:C Identity +NM_005751.5:c.2325A>G NP_005742.4:p.Ala775= NC_000007.14:92002241:A:G p.(Ala775=) NC_000007.14:92002241:A:G p.(Ala775=) NC_000007.14:92002241:A:G Identity +NM_001081676.2:c.1593C>T NP_001075145.1:p.Ser531= NC_000002.12:165146816:G:A p.(Ser531=) NC_000002.12:165146816:G:A p.(Ser531=) NC_000002.12:165146816:G:A Identity +NM_001382394.1:c.2070A>T NP_001369323.1:p.Val690= NC_000002.12:39013535:T:A p.(Val690=) NC_000002.12:39013535:T:A p.(Val690=) NC_000002.12:39013535:T:A Identity +NM_001283009.2:c.3897C>T NP_001269938.1:p.Pro1299= NC_000020.11:63695851:C:T p.(Pro1299=) NC_000020.11:63695851:C:T p.(Pro1299=) NC_000020.11:63695851:C:T Identity +NM_001303496.3:c.4353T>C NP_001290425.1:p.Tyr1451= NC_000007.14:93131618:A:G p.(Tyr1451=) NC_000007.14:93131618:A:G p.(Tyr1451=) NC_000007.14:93131618:A:G Identity +NM_025136.4:c.453A>G NP_079412.1:p.Glu151= NC_000019.10:45553600:T:C p.(Glu151=) NC_000019.10:45553600:T:C p.(Glu151=) NC_000019.10:45553600:T:C Identity +NM_001193307.2:c.768C>T NP_001180236.1:p.Thr256= NC_000007.14:93105329:G:A p.(Thr256=) NC_000007.14:93105329:G:A p.(Thr256=) NC_000007.14:93105329:G:A Identity +NM_001999.4:c.2115C>G NP_001990.2:p.Thr705= NC_000005.10:128369314:G:C p.(Thr705=) NC_000005.10:128369314:G:C p.(Thr705=) NC_000005.10:128369314:G:C Identity +NM_001178133.2:c.42G>C NP_001171604.1:p.Ala14= NC_000010.11:102504193:G:C p.(Ala14=) NC_000010.11:102504193:G:C p.(Ala14=) NC_000010.11:102504193:G:C Identity +NM_001365276.2:c.5625G>T NP_001352205.1:p.Pro1875= NC_000006.12:32069098:C:A p.(Pro1875=) NC_000006.12:32069098:C:A p.(Pro1875=) NC_000006.12:32069098:C:A Identity +NM_001303496.3:c.1743T>C NP_001290425.1:p.Ser581= NC_000007.14:93134228:A:G p.(Ser581=) NC_000007.14:93134228:A:G p.(Ser581=) NC_000007.14:93134228:A:G Identity +NM_001308133.2:c.5430C>T NP_001295062.1:p.Ser1810= NC_000014.9:45196338:C:T p.(Ser1810=) NC_000014.9:45196338:C:T p.(Ser1810=) NC_000014.9:45196338:C:T Identity +NM_001283009.2:c.2730C>A NP_001269938.1:p.Ala910= NC_000020.11:63692881:C:A p.(Ala910=) NC_000020.11:63692881:C:A p.(Ala910=) NC_000020.11:63692881:C:A Identity +NM_001195573.1:c.3306T>C NP_001182502.1:p.Ile1102= NC_000014.9:95104089:A:G p.(Ile1102=) NC_000014.9:95104089:A:G p.(Ile1102=) NC_000014.9:95104089:A:G Identity +NM_001166110.2:c.459G>A NP_001159582.1:p.Pro153= NC_000004.12:168878349:G:A p.(Pro153=) NC_000004.12:168878349:G:A p.(Pro153=) NC_000004.12:168878349:G:A Identity +NM_001256053.2:c.3951C>T NP_001242982.1:p.Asn1317= NC_000010.11:27028869:G:A p.(Asn1317=) NC_000010.11:27028869:G:A p.(Asn1317=) NC_000010.11:27028869:G:A Identity +NM_001346899.2:c.3261A>T NP_001333828.1:p.Ala1087= NC_000007.14:55205379:A:T p.(Ala1087=) NC_000007.14:55205379:A:T p.(Ala1087=) NC_000007.14:55205379:A:T Identity +NM_001193307.2:c.4155G>A NP_001180236.1:p.Lys1385= NC_000007.14:93101942:C:T p.(Lys1385=) NC_000007.14:93101942:C:T p.(Lys1385=) NC_000007.14:93101942:C:T Identity +NM_006231.4:c.2094G>A NP_006222.2:p.Leu698= NC_000012.12:132668434:C:T p.(Leu698=) NC_000012.12:132668434:C:T p.(Leu698=) NC_000012.12:132668434:C:T Identity +NM_001287424.2:c.207C>A NP_001274353.1:p.Pro69= NC_000019.10:33302312:G:T p.(Pro69=) NC_000019.10:33302312:G:T p.(Pro69=) NC_000019.10:33302312:G:T Identity +NM_001353765.2:c.1416T>C NP_001340694.1:p.Thr472= NC_000002.12:29193466:A:G p.(Thr472=) NC_000002.12:29193466:A:G p.(Thr472=) NC_000002.12:29193466:A:G Identity +NM_001166175.2:c.261C>T NP_001159647.1:p.Pro87= NC_000005.10:173234822:G:A p.(Pro87=) NC_000005.10:173234822:G:A p.(Pro87=) NC_000005.10:173234822:G:A Identity +NM_001276270.2:c.614_615del NP_001263199.1:p.Leu204_Ser205insTer NC_000003.12:129437028:AGAGAG:AGAG p.(Ser205Ter) NC_000003.12:129437028:AGAGAG:AGAG p.(Ser205Ter) NC_000003.12:129437028:AG: Analogous +NM_001330437.2:c.342T>C NP_001317366.1:p.His114= NC_000012.12:112453203:T:C p.(His114=) NC_000012.12:112453203:T:C p.(His114=) NC_000012.12:112453203:T:C Identity +NM_002386.4:c.568C>T NP_002377.4:p.Leu190= NC_000016.10:89919825:C:T p.(Leu190=) NC_000016.10:89919825:C:T p.(Leu190=) NC_000016.10:89919825:C:T Identity +NM_000135.4:c.3021C>G NP_000126.2:p.Val1007= NC_000016.10:89752182:G:C p.(Val1007=) NC_000016.10:89752182:G:C p.(Val1007=) NC_000016.10:89752182:G:C Identity +NM_000038.6:c.3639A>C NP_000029.2:p.Ser1213= NC_000005.10:112839232:A:C p.(Ser1213=) NC_000005.10:112839232:A:C p.(Ser1213=) NC_000005.10:112839232:A:C Identity +NM_001256850.1:c.88911C>T NP_001243779.1:p.Ser29637= NC_000002.12:178547791:G:A p.(Ser29637=) NC_000002.12:178547791:G:A p.(Ser29637=) NC_000002.12:178547791:G:A Identity +NM_001193307.2:c.2697T>C NP_001180236.1:p.Asn899= NC_000007.14:93103400:A:G p.(Asn899=) NC_000007.14:93103400:A:G p.(Asn899=) NC_000007.14:93103400:A:G Identity +NM_006767.4:c.213C>T NP_006758.2:p.His71= NC_000022.11:20983038:C:T p.(His71=) NC_000022.11:20983038:C:T p.(His71=) NC_000022.11:20983038:C:T Identity +NM_001413017.1:c.1902G>A NP_001399946.1:p.Gly634= NC_000008.11:144513987:C:T p.(Gly634=) NC_000008.11:144513987:C:T p.(Gly634=) NC_000008.11:144513987:C:T Identity +NM_001357321.2:c.627C>T NP_001344250.1:p.Tyr209= NC_000002.12:43852418:C:T p.(Tyr209=) NC_000002.12:43852418:C:T p.(Tyr209=) NC_000002.12:43852418:C:T Identity +NM_003036.4:c.987G>C NP_003027.1:p.Pro329= NC_000001.11:2302994:G:C p.(Pro329=) NC_000001.11:2302994:G:C p.(Pro329=) NC_000001.11:2302994:G:C Identity +NM_001308133.2:c.2889T>C NP_001295062.1:p.Asn963= NC_000014.9:45175720:T:C p.(Asn963=) NC_000014.9:45175720:T:C p.(Asn963=) NC_000014.9:45175720:T:C Identity +NM_001319945.2:c.60C>G NP_001306874.1:p.Ala20= NC_000017.11:44071024:C:G p.(Ala20=) NC_000017.11:44071024:C:G p.(Ala20=) NC_000017.11:44071024:C:G Identity +NM_000038.6:c.1710A>G NP_000029.2:p.Lys570= NC_000005.10:112828938:A:G p.(Lys570=) NC_000005.10:112828938:A:G p.(Lys570=) NC_000005.10:112828938:A:G Identity +NM_001379200.1:c.1263C>T NP_001366129.1:p.His421= NC_000022.11:19766614:C:T p.(His421=) NC_000022.11:19766614:C:T p.(His421=) NC_000022.11:19766614:C:T Identity +NM_001193307.2:c.1968T>C NP_001180236.1:p.Cys656= NC_000007.14:93104129:A:G p.(Cys656=) NC_000007.14:93104129:A:G p.(Cys656=) NC_000007.14:93104129:A:G Identity +NM_000244.4:c.469T>C NP_000235.3:p.Leu157= NC_000011.10:64808090:A:G p.(Leu157=) NC_000011.10:64808090:A:G p.(Leu157=) NC_000011.10:64808090:A:G Identity +NM_144670.6:c.1372C>T NP_653271.3:p.Leu458= NC_000012.12:8843256:C:T p.(Leu458=) NC_000012.12:8843256:C:T p.(Leu458=) NC_000012.12:8843256:C:T Identity +NM_001320893.1:c.243C>T NP_001307822.1:p.Pro81= NC_000002.12:25248192:G:A p.(Pro81=) NC_000002.12:25248192:G:A p.(Pro81=) NC_000002.12:25248192:G:A Identity +NM_000721.4:c.4809C>T NP_000712.2:p.Ser1603= NC_000001.11:181763524:C:T p.(Ser1603=) NC_000001.11:181763524:C:T p.(Ser1603=) NC_000001.11:181763524:C:T Identity +NM_001195227.2:c.198C>T NP_001182156.1:p.His66= NC_000019.10:49166145:C:T p.(His66=) NC_000019.10:49166145:C:T p.(His66=) NC_000019.10:49166145:C:T Identity +NM_004629.2:c.415C>T NP_004620.1:p.Leu139= NC_000009.12:35078235:G:A p.(Leu139=) NC_000009.12:35078235:G:A p.(Leu139=) NC_000009.12:35078235:G:A Identity +NM_001999.4:c.2436T>C NP_001990.2:p.Asp812= NC_000005.10:128361840:A:G p.(Asp812=) NC_000005.10:128361840:A:G p.(Asp812=) NC_000005.10:128361840:A:G Identity +NM_004629.2:c.954C>T NP_004620.1:p.Ala318= NC_000009.12:35076553:G:A p.(Ala318=) NC_000009.12:35076553:G:A p.(Ala318=) NC_000009.12:35076553:G:A Identity +NM_000088.4:c.3213T>C NP_000079.2:p.Pro1071= NC_000017.11:50188143:A:G p.(Pro1071=) NC_000017.11:50188143:A:G p.(Pro1071=) NC_000017.11:50188143:A:G Identity +NM_022436.3:c.384C>T NP_071881.1:p.Cys128= NC_000002.12:43831964:G:A p.(Cys128=) NC_000002.12:43831964:G:A p.(Cys128=) NC_000002.12:43831964:G:A Identity +NM_025136.4:c.240C>T NP_079412.1:p.Gly80= NC_000019.10:45553813:G:A p.(Gly80=) NC_000019.10:45553813:G:A p.(Gly80=) NC_000019.10:45553813:G:A Identity +NM_001017989.3:c.27G>A NP_001017989.2:p.Ala9= NC_000019.10:45584737:C:T p.(Ala9=) NC_000019.10:45584737:C:T p.(Ala9=) NC_000019.10:45584737:C:T Identity +NM_001145661.2:c.615_629dup NP_001139133.1:p.Gly210_Val211insGluAspLysAspGly NC_000003.12:128485968:CCGTCCTTGTCCTCTCC:CCGTCCTTGTCCTCTCCGTCCTTGTCCTCTCC p.(Glu206_Gly210dup) NC_000003.12:128485968:CCGTCCTTGTCCTCTCC:CCGTCCTTGTCCTCTCCGTCCTTGTCCTCTCC p.(Glu206_Gly210dup) ERR:SPDI Analogous +NM_001127493.3:c.471G>T NP_001120965.1:p.Ala157= NC_000004.12:113237036:G:T p.(Ala157=) NC_000004.12:113237036:G:T p.(Ala157=) NC_000004.12:113237036:G:T Identity +LRG_20t1:c.1299T>C LRG_20p1:p.Asp433= NC_000015.10:90760671:T:C ERR:Data provider error: ValueError: Transcript LRG_20t1 not found ERR:Data provider error: ValueError: Transcript LRG_20t1 not found ERR:AlignmentMapper(tx_ac=LRG_20t1, alt_ac=LRG_20t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_20t1, alt_ac=LRG_20t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_20t1 not found +NM_001127215.3:c.492G>A NP_001120687.1:p.Pro164= NC_000001.11:92480894:C:T p.(Pro164=) NC_000001.11:92480894:C:T p.(Pro164=) NC_000001.11:92480894:C:T Identity +NM_000138.5:c.6762A>G NP_000129.3:p.Gly2254= NC_000015.10:48430779:T:C p.(Gly2254=) NC_000015.10:48430779:T:C p.(Gly2254=) NC_000015.10:48430779:T:C Identity +NM_001304840.3:c.669C>T NP_001291769.1:p.Gly223= NC_000002.12:196319152:G:A p.(Gly223=) NC_000002.12:196319152:G:A p.(Gly223=) NC_000002.12:196319152:G:A Identity +NM_001320893.1:c.1971G>T NP_001307822.1:p.Val657= NC_000002.12:25236986:C:A p.(Val657=) NC_000002.12:25236986:C:A p.(Val657=) NC_000002.12:25236986:C:A Identity +NM_000384.3:c.294C>T NP_000375.3:p.Thr98= NC_000002.12:21041026:G:A p.(Thr98=) NC_000002.12:21041026:G:A p.(Thr98=) NC_000002.12:21041026:G:A Identity +NM_001321732.2:c.942G>A NP_001308661.1:p.Glu314= NC_000005.10:177512858:C:T p.(Glu314=) NC_000005.10:177512858:C:T p.(Glu314=) NC_000005.10:177512858:C:T Identity +NM_000264.5:c.993C>T NP_000255.2:p.Ser331= NC_000009.12:95480042:G:A p.(Ser331=) NC_000009.12:95480042:G:A p.(Ser331=) NC_000009.12:95480042:G:A Identity +NM_000118.4:c.579G>C NP_000109.1:p.Thr193= NC_000009.12:127825804:C:G p.(Thr193=) NC_000009.12:127825804:C:G p.(Thr193=) NC_000009.12:127825804:C:G Identity +NM_001276270.2:c.48T>C NP_001263199.1:p.Ala16= NC_000003.12:129439785:A:G p.(Ala16=) NC_000003.12:129439785:A:G p.(Ala16=) NC_000003.12:129439785:A:G Identity +NM_001413913.1:c.1158A>T NP_001400842.1:p.Thr386= NC_000012.12:11885933:A:T p.(Thr386=) NC_000012.12:11885933:A:T p.(Thr386=) NC_000012.12:11885933:A:T Identity +NM_004064.5:c.564C>A NP_004055.1:p.Pro188= NC_000012.12:12718912:C:A p.(Pro188=) NC_000012.12:12718912:C:A p.(Pro188=) NC_000012.12:12718912:C:A Identity +NM_032043.3:c.486A>C NP_114432.2:p.Arg162= NC_000017.11:61849149:T:G p.(Arg162=) NC_000017.11:61849149:T:G p.(Arg162=) NC_000017.11:61849149:T:G Identity +NM_001407041.1:c.1203C>T NP_001393970.1:p.Cys401= NC_000018.10:51067081:C:T p.(Cys401=) NC_000018.10:51067081:C:T p.(Cys401=) NC_000018.10:51067081:C:T Identity +NM_001256053.2:c.609A>C NP_001242982.1:p.Ala203= NC_000010.11:27092434:T:G p.(Ala203=) NC_000010.11:27092434:T:G p.(Ala203=) NC_000010.11:27092434:T:G Identity +NM_001256053.2:c.2550G>A NP_001242982.1:p.Leu850= NC_000010.11:27037876:C:T p.(Leu850=) NC_000010.11:27037876:C:T p.(Leu850=) NC_000010.11:27037876:C:T Identity +NM_002439.5:c.1062A>G NP_002430.3:p.Val354= NC_000005.10:80675016:A:G p.(Val354=) NC_000005.10:80675016:A:G p.(Val354=) NC_000005.10:80675016:A:G Identity +NM_000179.3:c.1489A>C NP_000170.1:p.Arg497= NC_000002.12:47799471:A:C p.(Arg497=) NC_000002.12:47799471:A:C p.(Arg497=) NC_000002.12:47799471:A:C Identity +NM_001256053.2:c.5016T>A NP_001242982.1:p.Ser1672= NC_000010.11:27005703:A:T p.(Ser1672=) NC_000010.11:27005703:A:T p.(Ser1672=) NC_000010.11:27005703:A:T Identity +NM_002458.3:c.15837A>C NP_002449.2:p.Thr5279= NC_000011.10:1255212:A:C p.(Thr5279=) NC_000011.10:1255212:A:C p.(Thr5279=) NC_000011.10:1255212:A:C Identity +NM_001048171.2:c.1242T>G NP_001041636.2:p.Val414= NC_000001.11:45331331:A:C p.(Val414=) NC_000001.11:45331331:A:C p.(Val414=) NC_000001.11:45331331:A:C Identity +NM_000256.3:c.123C>G NP_000247.2:p.Arg41= NC_000011.10:47351407:G:C p.(Arg41=) NC_000011.10:47351407:G:C p.(Arg41=) NC_000011.10:47351407:G:C Identity +NM_001040113.2:c.1731G>A NP_001035202.1:p.Lys577= NC_000016.10:15756379:C:T p.(Lys577=) NC_000016.10:15756379:C:T p.(Lys577=) NC_000016.10:15756379:C:T Identity +NM_001321309.2:c.3090C>T NP_001308238.1:p.Pro1030= NC_000003.12:123682257:G:A p.(Pro1030=) NC_000003.12:123682257:G:A p.(Pro1030=) NC_000003.12:123682257:G:A Identity +NM_033118.4:c.306G>T NP_149109.1:p.Ala102= NC_000020.11:31820378:G:T p.(Ala102=) NC_000020.11:31820378:G:T p.(Ala102=) NC_000020.11:31820378:G:T Identity +NM_003803.4:c.1713C>T NP_003794.3:p.Val571= NC_000018.10:3151823:G:A p.(Val571=) NC_000018.10:3151823:G:A p.(Val571=) NC_000018.10:3151823:G:A Identity +NM_003803.4:c.2511A>T NP_003794.3:p.Gly837= NC_000018.10:3129514:T:A p.(Gly837=) NC_000018.10:3129514:T:A p.(Gly837=) NC_000018.10:3129514:T:A Identity +NM_001173484.2:c.411C>A NP_001166955.1:p.Val137= NC_000010.11:20812886:G:T p.(Val137=) NC_000010.11:20812886:G:T p.(Val137=) NC_000010.11:20812886:G:T Identity +NM_001172309.2:c.1305T>C NP_001165780.1:p.Pro435= NC_000001.11:77942045:T:C p.(Pro435=) NC_000001.11:77942045:T:C p.(Pro435=) NC_000001.11:77942045:T:C Identity +NM_001114090.2:c.1089C>T NP_001107562.1:p.Asn363= NC_000002.12:232885351:G:A p.(Asn363=) NC_000002.12:232885351:G:A p.(Asn363=) NC_000002.12:232885351:G:A Identity +NM_001198546.1:c.1203C>T NP_001185475.1:p.Asp401= NC_000018.10:33958271:G:A p.(Asp401=) NC_000018.10:33958271:G:A p.(Asp401=) NC_000018.10:33958271:G:A Identity +NM_001098623.2:c.8145G>A NP_001092093.2:p.Leu2715= NC_000001.11:228280743:G:A p.(Leu2715=) NC_000001.11:228280743:G:A p.(Leu2715=) NC_000001.11:228280743:G:A Identity +NM_001098623.2:c.13557G>T NP_001092093.2:p.Val4519= NC_000001.11:228316979:G:T p.(Val4519=) NC_000001.11:228316979:G:T p.(Val4519=) NC_000001.11:228316979:G:T Identity +NM_001098623.2:c.5100A>C NP_001092093.2:p.Ala1700= NC_000001.11:228268767:A:C p.(Ala1700=) NC_000001.11:228268767:A:C p.(Ala1700=) NC_000001.11:228268767:A:C Identity +NM_001166110.2:c.321G>A NP_001159582.1:p.Val107= NC_000004.12:168878211:G:A p.(Val107=) NC_000004.12:168878211:G:A p.(Val107=) NC_000004.12:168878211:G:A Identity +NM_001166110.2:c.105G>A NP_001159582.1:p.Ala35= NC_000004.12:168877995:G:A p.(Ala35=) NC_000004.12:168877995:G:A p.(Ala35=) NC_000004.12:168877995:G:A Identity +NM_001280547.2:c.507G>A NP_001267476.1:p.Ser169= NC_000009.12:37002744:C:T p.(Ser169=) NC_000009.12:37002744:C:T p.(Ser169=) NC_000009.12:37002744:C:T Identity +NM_001280547.2:c.627G>A NP_001267476.1:p.Pro209= NC_000009.12:36966701:C:T p.(Pro209=) NC_000009.12:36966701:C:T p.(Pro209=) NC_000009.12:36966701:C:T Identity +NM_001280547.2:c.576C>T NP_001267476.1:p.Ala192= NC_000009.12:37002675:G:A p.(Ala192=) NC_000009.12:37002675:G:A p.(Ala192=) NC_000009.12:37002675:G:A Identity +NM_001280547.2:c.709C>T NP_001267476.1:p.Leu237= NC_000009.12:36966619:G:A p.(Leu237=) NC_000009.12:36966619:G:A p.(Leu237=) NC_000009.12:36966619:G:A Identity +NM_000038.6:c.189T>G NP_000029.2:p.Ser63= NC_000005.10:112766378:T:G p.(Ser63=) NC_000005.10:112766378:T:G p.(Ser63=) NC_000005.10:112766378:T:G Identity +NM_001347827.2:c.1789C>A NP_001334756.1:p.Arg597= NC_000004.12:54277389:C:A p.(Arg597=) NC_000004.12:54277389:C:A p.(Arg597=) NC_000004.12:54277389:C:A Identity +NM_000483.5:c.24T>G NP_000474.2:p.Ala8= NC_000019.10:44948501:T:G p.(Ala8=) NC_000019.10:44948501:T:G p.(Ala8=) NC_000019.10:44948501:T:G Identity +NM_000264.5:c.915C>A NP_000255.2:p.Pro305= NC_000009.12:95480419:G:T p.(Pro305=) NC_000009.12:95480419:G:T p.(Pro305=) NC_000009.12:95480419:G:T Identity +NM_004103.4:c.1635C>T NP_004094.3:p.Cys545= NC_000008.11:27437871:C:T p.(Cys545=) NC_000008.11:27437871:C:T p.(Cys545=) NC_000008.11:27437871:C:T Identity +NM_001321809.2:c.489T>C NP_001308738.1:p.Tyr163= NC_000014.9:67885904:T:C p.(Tyr163=) NC_000014.9:67885904:T:C p.(Tyr163=) NC_000014.9:67885904:T:C Identity +NM_001413017.1:c.3298C>T NP_001399946.1:p.Leu1100= NC_000008.11:144511465:G:A p.(Leu1100=) NC_000008.11:144511465:G:A p.(Leu1100=) NC_000008.11:144511465:G:A Identity +NM_001413017.1:c.996G>T NP_001399946.1:p.Val332= NC_000008.11:144516026:C:A p.(Val332=) NC_000008.11:144516026:C:A p.(Val332=) NC_000008.11:144516026:C:A Identity +NM_001413017.1:c.1965A>C NP_001399946.1:p.Ala655= NC_000008.11:144513709:T:G p.(Ala655=) NC_000008.11:144513709:T:G p.(Ala655=) NC_000008.11:144513709:T:G Identity +NM_001413017.1:c.756C>G NP_001399946.1:p.Pro252= NC_000008.11:144516362:G:C p.(Pro252=) NC_000008.11:144516362:G:C p.(Pro252=) NC_000008.11:144516362:G:C Identity +NM_001283009.2:c.2382G>T NP_001269938.1:p.Leu794= NC_000020.11:63690409:G:T p.(Leu794=) NC_000020.11:63690409:G:T p.(Leu794=) NC_000020.11:63690409:G:T Identity +NM_001283009.2:c.2448G>C NP_001269938.1:p.Leu816= NC_000020.11:63690838:G:C p.(Leu816=) NC_000020.11:63690838:G:C p.(Leu816=) NC_000020.11:63690838:G:C Identity +NM_001193307.2:c.234C>T NP_001180236.1:p.Ala78= NC_000007.14:93105863:G:A p.(Ala78=) NC_000007.14:93105863:G:A p.(Ala78=) NC_000007.14:93105863:G:A Identity +NM_001193307.2:c.4476T>C NP_001180236.1:p.Leu1492= NC_000007.14:93101621:A:G p.(Leu1492=) NC_000007.14:93101621:A:G p.(Leu1492=) NC_000007.14:93101621:A:G Identity +NM_001193307.2:c.2772T>G NP_001180236.1:p.Leu924= NC_000007.14:93103325:A:C p.(Leu924=) NC_000007.14:93103325:A:C p.(Leu924=) NC_000007.14:93103325:A:C Identity +NM_001193307.2:c.285T>G NP_001180236.1:p.Ala95= NC_000007.14:93105812:A:C p.(Ala95=) NC_000007.14:93105812:A:C p.(Ala95=) NC_000007.14:93105812:A:C Identity +NM_001193307.2:c.1200A>G NP_001180236.1:p.Gly400= NC_000007.14:93104897:T:C p.(Gly400=) NC_000007.14:93104897:T:C p.(Gly400=) NC_000007.14:93104897:T:C Identity +NM_001193307.2:c.3996C>T NP_001180236.1:p.Cys1332= NC_000007.14:93102101:G:A p.(Cys1332=) NC_000007.14:93102101:G:A p.(Cys1332=) NC_000007.14:93102101:G:A Identity +NM_001303496.3:c.591T>C NP_001290425.1:p.His197= NC_000007.14:93135380:A:G p.(His197=) NC_000007.14:93135380:A:G p.(His197=) NC_000007.14:93135380:A:G Identity +NM_001303496.3:c.3066T>C NP_001290425.1:p.Tyr1022= NC_000007.14:93132905:A:G p.(Tyr1022=) NC_000007.14:93132905:A:G p.(Tyr1022=) NC_000007.14:93132905:A:G Identity +NM_001303496.3:c.4392G>A NP_001290425.1:p.Lys1464= NC_000007.14:93131579:C:T p.(Lys1464=) NC_000007.14:93131579:C:T p.(Lys1464=) NC_000007.14:93131579:C:T Identity +NM_001303496.3:c.1698T>C NP_001290425.1:p.Ala566= NC_000007.14:93134273:A:G p.(Ala566=) NC_000007.14:93134273:A:G p.(Ala566=) NC_000007.14:93134273:A:G Identity +NM_001293306.2:c.4203C>T NP_001280235.2:p.Ile1401= NC_000003.12:38709552:G:A p.(Ile1401=) NC_000003.12:38709552:G:A p.(Ile1401=) NC_000003.12:38709552:G:A Identity +NM_001293306.2:c.4881C>T NP_001280235.2:p.Ser1627= NC_000003.12:38698335:G:A p.(Ser1627=) NC_000003.12:38698335:G:A p.(Ser1627=) NC_000003.12:38698335:G:A Identity +NM_001294332.2:c.1035G>C NP_001281261.1:p.Val345= NC_000005.10:235257:G:C p.(Val345=) NC_000005.10:235257:G:C p.(Val345=) NC_000005.10:235257:G:C Identity +NM_006811.4:c.1284C>T NP_006802.1:p.Ser428= NC_000020.11:44500433:G:A p.(Ser428=) NC_000020.11:44500433:G:A p.(Ser428=) NC_000020.11:44500433:G:A Identity +NM_005475.3:c.648C>G NP_005466.1:p.Arg216= NC_000012.12:111418792:C:G p.(Arg216=) NC_000012.12:111418792:C:G p.(Arg216=) NC_000012.12:111418792:C:G Identity +NM_001291424.1:c.621G>A NP_001278353.1:p.Gly207= NC_000012.12:111447534:G:A p.(Gly207=) NC_000012.12:111447534:G:A p.(Gly207=) NC_000012.12:111447534:G:A Identity +NM_001363734.1:c.3666T>G NP_001350663.1:p.Gly1222= NC_000020.11:32436560:T:G p.(Gly1222=) NC_000020.11:32436560:T:G p.(Gly1222=) NC_000020.11:32436560:T:G Identity +NM_001348250.2:c.1142_1153del NP_001335179.1:p.Trp381_Leu384del NC_000003.12:11028793:CTCTGGGCCATCCTCT:CTCT p.(Trp381_Leu384del) NC_000003.12:11028793:CTCTGGGCCATCCTCT:CTCT p.(Trp381_Leu384del) NC_000003.12:11028797:GGGCCATCCTCT: Identity +NM_001184749.3:c.1029G>A NP_001171678.1:p.Pro343= NC_000023.11:143630079:C:T p.(Pro343=) NC_000023.11:143630079:C:T p.(Pro343=) NC_000023.11:143630079:C:T Identity +NM_001007468.3:c.687C>T NP_001007469.1:p.Ala229= NC_000022.11:23816854:C:T p.(Ala229=) NC_000022.11:23816854:C:T p.(Ala229=) NC_000022.11:23816854:C:T Identity +NM_001411020.1:c.3471T>A NP_001397949.1:p.Pro1157= NC_000014.9:50118772:A:T p.(Pro1157=) NC_000014.9:50118772:A:T p.(Pro1157=) NC_000014.9:50118772:A:T Identity +NM_001267722.2:c.1716A>G NP_001254651.1:p.Thr572= NC_000004.12:56501743:A:G p.(Thr572=) NC_000004.12:56501743:A:G p.(Thr572=) NC_000004.12:56501743:A:G Identity +NM_006947.4:c.663A>C NP_008878.3:p.Pro221= NC_000004.12:56478398:A:C p.(Pro221=) NC_000004.12:56478398:A:C p.(Pro221=) NC_000004.12:56478398:A:C Identity +NM_006767.4:c.65_71del NP_006758.2:p.Arg21_Ser22insTer NC_000022.11:20982432:GGTCCAAGGT:GGT p.(Ser22Ter) NC_000022.11:20982432:GGTCCAAGGT:GGT p.(Ser22Ter) NC_000022.11:20982435:CCAAGGT: Analogous +NM_003185.4:c.900C>T NP_003176.2:p.Pro300= NC_000020.11:62064910:G:A p.(Pro300=) NC_000020.11:62064910:G:A p.(Pro300=) NC_000020.11:62064910:G:A Identity +NM_024562.2:c.567C>T NP_078838.1:p.Pro189= NC_000016.10:68860355:C:T p.(Pro189=) NC_000016.10:68860355:C:T p.(Pro189=) NC_000016.10:68860355:C:T Identity +NM_000051.4:c.1716A>G NP_000042.3:p.Leu572= NC_000011.10:108251944:A:G p.(Leu572=) NC_000011.10:108251944:A:G p.(Leu572=) NC_000011.10:108251944:A:G Identity +NM_000051.4:c.5664C>T NP_000042.3:p.Asn1888= NC_000011.10:108304841:C:T p.(Asn1888=) NC_000011.10:108304841:C:T p.(Asn1888=) NC_000011.10:108304841:C:T Identity +NM_001193376.3:c.1260C>T NP_001180305.1:p.Thr420= NC_000005.10:1293625:G:A p.(Thr420=) NC_000005.10:1293625:G:A p.(Thr420=) NC_000005.10:1293625:G:A Identity +NM_001193376.3:c.1986C>T NP_001180305.1:p.Phe662= NC_000005.10:1279434:G:A p.(Phe662=) NC_000005.10:1279434:G:A p.(Phe662=) NC_000005.10:1279434:G:A Identity +NM_001127208.3:c.1308C>T NP_001120680.1:p.His436= NC_000004.12:105235249:C:T p.(His436=) NC_000004.12:105235249:C:T p.(His436=) NC_000004.12:105235249:C:T Identity +NM_001127208.3:c.2166G>A NP_001120680.1:p.Lys722= NC_000004.12:105236107:G:A p.(Lys722=) NC_000004.12:105236107:G:A p.(Lys722=) NC_000004.12:105236107:G:A Identity +NM_001126240.3:c.696T>C NP_001119712.1:p.Asp232= NC_000001.11:3727627:T:C p.(Asp232=) NC_000001.11:3727627:T:C p.(Asp232=) NC_000001.11:3727627:T:C Identity +NM_001697.3:c.12A>G NP_001688.1:p.Pro4= NC_000021.9:33915751:T:C p.(Pro4=) NC_000021.9:33915751:T:C p.(Pro4=) NC_000021.9:33915751:T:C Identity +NM_001388022.1:c.3600C>T NP_001374951.1:p.Tyr1200= NC_000011.10:8620517:G:A p.(Tyr1200=) NC_000011.10:8620517:G:A p.(Tyr1200=) NC_000011.10:8620517:G:A Identity +NM_000548.5:c.4752G>C NP_000539.2:p.Leu1584= NC_000016.10:2086281:G:C p.(Leu1584=) NC_000016.10:2086281:G:C p.(Leu1584=) NC_000016.10:2086281:G:C Identity +NM_000548.5:c.2883A>C NP_000539.2:p.Pro961= NC_000016.10:2077642:A:C p.(Pro961=) NC_000016.10:2077642:A:C p.(Pro961=) NC_000016.10:2077642:A:C Identity +NM_001318832.2:c.33C>G NP_001305761.1:p.Thr11= NC_000016.10:2048614:C:G p.(Thr11=) NC_000016.10:2048614:C:G p.(Thr11=) NC_000016.10:2048614:C:G Identity +NM_000548.5:c.4365C>A NP_000539.2:p.Gly1455= NC_000016.10:2084586:C:A p.(Gly1455=) NC_000016.10:2084586:C:A p.(Gly1455=) NC_000016.10:2084586:C:A Identity +NM_000548.5:c.2040G>C NP_000539.2:p.Arg680= NC_000016.10:2071876:G:C p.(Arg680=) NC_000016.10:2071876:G:C p.(Arg680=) NC_000016.10:2071876:G:C Identity +NM_020856.4:c.2661C>T NP_065907.2:p.Pro887= NC_000019.10:31277131:G:A p.(Pro887=) NC_000019.10:31277131:G:A p.(Pro887=) NC_000019.10:31277131:G:A Identity +NM_001256850.1:c.87093T>C NP_001243779.1:p.Asp29031= NC_000002.12:178549705:A:G p.(Asp29031=) NC_000002.12:178549705:A:G p.(Asp29031=) NC_000002.12:178549705:A:G Identity +NM_001256850.1:c.54876A>G NP_001243779.1:p.Lys18292= NC_000002.12:178592104:T:C p.(Lys18292=) NC_000002.12:178592104:T:C p.(Lys18292=) NC_000002.12:178592104:T:C Identity +NM_001256850.1:c.12261A>G NP_001243779.1:p.Gln4087= NC_000002.12:178740020:T:C p.(Gln4087=) NC_000002.12:178740020:T:C p.(Gln4087=) NC_000002.12:178740020:T:C Identity +NM_001271022.2:c.147C>T NP_001257951.1:p.Asp49= NC_000003.12:48451874:C:T p.(Asp49=) NC_000003.12:48451874:C:T p.(Asp49=) NC_000003.12:48451874:C:T Identity +NM_032166.4:c.87C>G NP_115542.2:p.Pro29= NC_000003.12:48446931:C:G p.(Pro29=) NC_000003.12:48446931:C:G p.(Pro29=) NC_000003.12:48446931:C:G Identity +NM_001271022.2:c.775C>T NP_001257951.1:p.Leu259= NC_000003.12:48460209:C:T p.(Leu259=) NC_000003.12:48460209:C:T p.(Leu259=) NC_000003.12:48460209:C:T Identity +NM_001321291.2:c.2574C>T NP_001308220.1:p.Ser858= NC_000017.11:78803620:G:A p.(Ser858=) NC_000017.11:78803620:G:A p.(Ser858=) NC_000017.11:78803620:G:A Identity +NM_001382308.1:c.357G>A NP_001369237.1:p.Arg119= NC_000017.11:44197025:C:T p.(Arg119=) NC_000017.11:44197025:C:T p.(Arg119=) NC_000017.11:44197025:C:T Identity +NM_001282394.3:c.4863C>T NP_001269323.1:p.Thr1621= NC_000009.12:93289505:C:T p.(Thr1621=) NC_000009.12:93289505:C:T p.(Thr1621=) NC_000009.12:93289505:C:T Identity +NM_001282394.3:c.2607G>T NP_001269323.1:p.Leu869= NC_000009.12:93259154:G:T p.(Leu869=) NC_000009.12:93259154:G:T p.(Leu869=) NC_000009.12:93259154:G:T Identity +NM_001282394.3:c.3234C>G NP_001269323.1:p.Ala1078= NC_000009.12:93261980:C:G p.(Ala1078=) NC_000009.12:93261980:C:G p.(Ala1078=) NC_000009.12:93261980:C:G Identity +NM_001282394.3:c.507C>T NP_001269323.1:p.Arg169= NC_000009.12:93185435:C:T p.(Arg169=) NC_000009.12:93185435:C:T p.(Arg169=) NC_000009.12:93185435:C:T Identity +NM_001282394.3:c.954C>G NP_001269323.1:p.Pro318= NC_000009.12:93230986:C:G p.(Pro318=) NC_000009.12:93230986:C:G p.(Pro318=) NC_000009.12:93230986:C:G Identity +NM_001282394.3:c.558G>A NP_001269323.1:p.Val186= NC_000009.12:93185486:G:A p.(Val186=) NC_000009.12:93185486:G:A p.(Val186=) NC_000009.12:93185486:G:A Identity +NM_001282394.3:c.54G>A NP_001269323.1:p.Gly18= NC_000009.12:93184982:G:A p.(Gly18=) NC_000009.12:93184982:G:A p.(Gly18=) NC_000009.12:93184982:G:A Identity +NM_001282394.3:c.759C>T NP_001269323.1:p.Asn253= NC_000009.12:93229772:C:T p.(Asn253=) NC_000009.12:93229772:C:T p.(Asn253=) NC_000009.12:93229772:C:T Identity +NM_001282394.3:c.6555G>A NP_001269323.1:p.Gln2185= NC_000009.12:93308511:G:A p.(Gln2185=) NC_000009.12:93308511:G:A p.(Gln2185=) NC_000009.12:93308511:G:A Identity +NM_001282394.3:c.342C>A NP_001269323.1:p.Ala114= NC_000009.12:93185270:C:A p.(Ala114=) NC_000009.12:93185270:C:A p.(Ala114=) NC_000009.12:93185270:C:A Identity +NM_000378.6:c.1020C>T NP_000369.4:p.Ala340= NC_000011.10:32399989:G:A p.(Ala340=) NC_000011.10:32399989:G:A p.(Ala340=) NC_000011.10:32399989:G:A Identity +NM_000378.6:c.180C>T NP_000369.4:p.Gly60= NC_000011.10:32435180:G:A p.(Gly60=) NC_000011.10:32435180:G:A p.(Gly60=) NC_000011.10:32435180:G:A Identity +NM_004281.4:c.492C>T NP_004272.2:p.Ala164= NC_000010.11:119670161:C:T p.(Ala164=) NC_000010.11:119670161:C:T p.(Ala164=) NC_000010.11:119670161:C:T Identity +NM_001410772.1:c.642C>A NP_001397701.1:p.Ile214= NC_000003.12:52406845:G:T p.(Ile214=) NC_000003.12:52406845:G:T p.(Ile214=) NC_000003.12:52406845:G:T Identity +NM_001023560.4:c.468C>T NP_001018854.2:p.Ala156= NC_000006.12:28272716:C:T p.(Ala156=) NC_000006.12:28272716:C:T p.(Ala156=) NC_000006.12:28272716:C:T Identity +NM_001204.7:c.405C>T NP_001195.2:p.Asp135= NC_000002.12:202467675:C:T p.(Asp135=) NC_000002.12:202467675:C:T p.(Asp135=) NC_000002.12:202467675:C:T Identity +NM_000059.4:c.1014T>C NP_000050.3:p.Ala338= NC_000013.11:32332491:T:C p.(Ala338=) NC_000013.11:32332491:T:C p.(Ala338=) NC_000013.11:32332491:T:C Identity +NM_032043.3:c.1246C>A NP_114432.2:p.Arg416= NC_000017.11:61799193:G:T p.(Arg416=) NC_000017.11:61799193:G:T p.(Arg416=) NC_000017.11:61799193:G:T Identity +NM_032043.3:c.1719A>G NP_114432.2:p.Leu573= NC_000017.11:61780914:T:C p.(Leu573=) NC_000017.11:61780914:T:C p.(Leu573=) NC_000017.11:61780914:T:C Identity +NM_001211.6:c.1512T>C NP_001202.5:p.Cys504= NC_000015.10:40200353:T:C p.(Cys504=) NC_000015.10:40200353:T:C p.(Cys504=) NC_000015.10:40200353:T:C Identity +NM_005188.4:c.975C>T NP_005179.2:p.Phe325= NC_000011.10:119276101:C:T p.(Phe325=) NC_000011.10:119276101:C:T p.(Phe325=) NC_000011.10:119276101:C:T Identity +NM_005188.4:c.2349C>G NP_005179.2:p.Ala783= NC_000011.10:119298454:C:G p.(Ala783=) NC_000011.10:119298454:C:G p.(Ala783=) NC_000011.10:119298454:C:G Identity +NM_001382000.1:c.960A>G NP_001368929.1:p.Leu320= NC_000017.11:16709016:A:G p.(Leu320=) NC_000017.11:16709016:A:G p.(Leu320=) NC_000017.11:16709016:A:G Identity +NM_024529.5:c.39C>T NP_078805.3:p.Ile13= NC_000001.11:193122238:C:T p.(Ile13=) NC_000001.11:193122238:C:T p.(Ile13=) NC_000001.11:193122238:C:T Identity +NM_015083.4:c.1899A>G NP_055898.1:p.Pro633= NC_000017.11:39471730:A:G p.(Pro633=) NC_000017.11:39471730:A:G p.(Pro633=) NC_000017.11:39471730:A:G Identity +NM_015083.4:c.402A>G NP_055898.1:p.Gln134= NC_000017.11:39462472:A:G p.(Gln134=) NC_000017.11:39462472:A:G p.(Gln134=) NC_000017.11:39462472:A:G Identity +NM_015083.4:c.1713A>T NP_055898.1:p.Pro571= NC_000017.11:39471544:A:T p.(Pro571=) NC_000017.11:39471544:A:T p.(Pro571=) NC_000017.11:39471544:A:T Identity +NM_015083.4:c.1782T>G NP_055898.1:p.Ala594= NC_000017.11:39471613:T:G p.(Ala594=) NC_000017.11:39471613:T:G p.(Ala594=) NC_000017.11:39471613:T:G Identity +NM_015083.4:c.3843C>G NP_055898.1:p.Pro1281= NC_000017.11:39530712:C:G p.(Pro1281=) NC_000017.11:39530712:C:G p.(Pro1281=) NC_000017.11:39530712:C:G Identity +NM_000492.4:c.3075T>C NP_000483.3:p.Ala1025= NC_000007.14:117610604:T:C p.(Ala1025=) NC_000007.14:117610604:T:C p.(Ala1025=) NC_000007.14:117610604:T:C Identity +NM_000492.4:c.1014C>T NP_000483.3:p.Thr338= NC_000007.14:117540243:C:T p.(Thr338=) NC_000007.14:117540243:C:T p.(Thr338=) NC_000007.14:117540243:C:T Identity +NM_001166239.2:c.447C>T NP_001159711.1:p.His149= NC_000002.12:27101783:G:A p.(His149=) NC_000002.12:27101783:G:A p.(His149=) NC_000002.12:27101783:G:A Identity +NM_130468.4:c.417C>T NP_569735.1:p.Arg139= NC_000015.10:40471629:C:T p.(Arg139=) NC_000015.10:40471629:C:T p.(Arg139=) NC_000015.10:40471629:C:T Identity +NM_000090.4:c.3132C>G NP_000081.2:p.Gly1044= NC_000002.12:189006382:C:G p.(Gly1044=) NC_000002.12:189006382:C:G p.(Gly1044=) NC_000002.12:189006382:C:G Identity +NM_000093.5:c.4878A>G NP_000084.3:p.Lys1626= NC_000009.12:134824778:A:G p.(Lys1626=) NC_000009.12:134824778:A:G p.(Lys1626=) NC_000009.12:134824778:A:G Identity +NM_016222.4:c.105C>G NP_057306.2:p.Pro35= NC_000005.10:177516757:G:C p.(Pro35=) NC_000005.10:177516757:G:C p.(Pro35=) NC_000005.10:177516757:G:C Identity +NM_001321732.2:c.1467G>C NP_001308661.1:p.Leu489= NC_000005.10:177511814:C:G p.(Leu489=) NC_000005.10:177511814:C:G p.(Leu489=) NC_000005.10:177511814:C:G Identity +NM_001321732.2:c.417C>T NP_001308661.1:p.Pro139= NC_000005.10:177514918:G:A p.(Pro139=) NC_000005.10:177514918:G:A p.(Pro139=) NC_000005.10:177514918:G:A Identity +NM_001321732.2:c.813T>C NP_001308661.1:p.Asn271= NC_000005.10:177513391:A:G p.(Asn271=) NC_000005.10:177513391:A:G p.(Asn271=) NC_000005.10:177513391:A:G Identity +NM_016222.4:c.262C>T NP_057306.2:p.Leu88= NC_000005.10:177516323:G:A p.(Leu88=) NC_000005.10:177516323:G:A p.(Leu88=) NC_000005.10:177516323:G:A Identity +NM_016222.4:c.349C>T NP_057306.2:p.Leu117= NC_000005.10:177516142:G:A p.(Leu117=) NC_000005.10:177516142:G:A p.(Leu117=) NC_000005.10:177516142:G:A Identity +NM_001193635.1:c.294A>G NP_001180564.1:p.Gly98= NC_000014.9:24001032:A:G p.(Gly98=) NC_000014.9:24001032:A:G p.(Gly98=) NC_000014.9:24001032:A:G Identity +NM_001195573.1:c.4758G>C NP_001182502.1:p.Leu1586= NC_000014.9:95096161:C:G p.(Leu1586=) NC_000014.9:95096161:C:G p.(Leu1586=) NC_000014.9:95096161:C:G Identity +NM_001193369.2:c.1512G>A NP_001180298.1:p.Ser504= NC_000020.11:62905962:C:T p.(Ser504=) NC_000020.11:62905962:C:T p.(Ser504=) NC_000020.11:62905962:C:T Identity +NM_000109.4:c.6759C>A NP_000100.3:p.Pro2253= NC_000023.11:31929724:G:T p.(Pro2253=) NC_000023.11:31929724:G:T p.(Pro2253=) NC_000023.11:31929724:G:T Identity +NM_001320893.1:c.1971G>C NP_001307822.1:p.Val657= NC_000002.12:25236986:C:G p.(Val657=) NC_000002.12:25236986:C:G p.(Val657=) NC_000002.12:25236986:C:G Identity +NM_001320893.1:c.309C>G NP_001307822.1:p.Ser103= NC_000002.12:25248126:G:C p.(Ser103=) NC_000002.12:25248126:G:C p.(Ser103=) NC_000002.12:25248126:G:C Identity +NM_022336.4:c.804C>T NP_071731.1:p.Ser268= NC_000002.12:108908018:G:A p.(Ser268=) NC_000002.12:108908018:G:A p.(Ser268=) NC_000002.12:108908018:G:A Identity +NM_016215.5:c.81C>T NP_057299.1:p.Gly27= NC_000009.12:136668556:C:T p.(Gly27=) NC_000009.12:136668556:C:T p.(Gly27=) NC_000009.12:136668556:C:T Identity +NM_001346897.2:c.1377G>A NP_001333826.1:p.Gln459= NC_000007.14:55161511:G:A p.(Gln459=) NC_000007.14:55161511:G:A p.(Gln459=) NC_000007.14:55161511:G:A Identity +NM_001377260.1:c.174C>T NP_001364189.1:p.Cys58= NC_000001.11:231421714:G:A p.(Cys58=) NC_000001.11:231421714:G:A p.(Cys58=) NC_000001.11:231421714:G:A Identity +NM_001377260.1:c.822C>T NP_001364189.1:p.Ser274= NC_000001.11:231421066:G:A p.(Ser274=) NC_000001.11:231421066:G:A p.(Ser274=) NC_000001.11:231421066:G:A Identity +NM_000118.4:c.267C>T NP_000109.1:p.Gly89= NC_000009.12:127829779:G:A p.(Gly89=) NC_000009.12:127829779:G:A p.(Gly89=) NC_000009.12:127829779:G:A Identity +NM_000118.4:c.1440C>T NP_000109.1:p.Ser480= NC_000009.12:127818365:G:A p.(Ser480=) NC_000009.12:127818365:G:A p.(Ser480=) NC_000009.12:127818365:G:A Identity +NM_001010895.4:c.48C>T NP_001010895.2:p.Asp16= NC_000009.12:95880869:C:T p.(Asp16=) NC_000009.12:95880869:C:T p.(Asp16=) NC_000009.12:95880869:C:T Identity +NM_001413913.1:c.660C>T NP_001400842.1:p.Pro220= NC_000012.12:11869622:C:T p.(Pro220=) NC_000012.12:11869622:C:T p.(Pro220=) NC_000012.12:11869622:C:T Identity +NM_000135.4:c.3375C>T NP_000126.2:p.Ala1125= NC_000016.10:89746863:G:A p.(Ala1125=) NC_000016.10:89746863:G:A p.(Ala1125=) NC_000016.10:89746863:G:A Identity +NM_000135.4:c.2409G>A NP_000126.2:p.Val803= NC_000016.10:89769931:C:T p.(Val803=) NC_000016.10:89769931:C:T p.(Val803=) NC_000016.10:89769931:C:T Identity +NM_000135.4:c.4086G>A NP_000126.2:p.Leu1362= NC_000016.10:89739213:C:T p.(Leu1362=) NC_000016.10:89739213:C:T p.(Leu1362=) NC_000016.10:89739213:C:T Identity +NM_000135.4:c.3564C>T NP_000126.2:p.His1188= NC_000016.10:89745020:G:A p.(His1188=) NC_000016.10:89745020:G:A p.(His1188=) NC_000016.10:89745020:G:A Identity +NM_004629.2:c.21T>A NP_004620.1:p.Ser7= NC_000009.12:35079503:A:T p.(Ser7=) NC_000009.12:35079503:A:T p.(Ser7=) NC_000009.12:35079503:A:T Identity +NM_001308133.2:c.363C>T NP_001295062.1:p.Ala121= NC_000014.9:45136393:C:T p.(Ala121=) NC_000014.9:45136393:C:T p.(Ala121=) NC_000014.9:45136393:C:T Identity +NM_001308133.2:c.618T>A NP_001295062.1:p.Ala206= NC_000014.9:45137177:T:A p.(Ala206=) NC_000014.9:45137177:T:A p.(Ala206=) NC_000014.9:45137177:T:A Identity +NM_001308133.2:c.12G>T NP_001295062.1:p.Arg4= NC_000014.9:45136042:G:T p.(Arg4=) NC_000014.9:45136042:G:T p.(Arg4=) NC_000014.9:45136042:G:T Identity +NM_001308133.2:c.4443A>G NP_001295062.1:p.Val1481= NC_000014.9:45185221:A:G p.(Val1481=) NC_000014.9:45185221:A:G p.(Val1481=) NC_000014.9:45185221:A:G Identity +NM_001305275.2:c.6018G>A NP_001292204.1:p.Thr2006= NC_000001.11:1054519:G:A p.(Thr2006=) NC_000001.11:1054519:G:A p.(Thr2006=) NC_000001.11:1054519:G:A Identity +NM_001370529.1:c.1464G>A NP_001357458.1:p.Pro488= NC_000006.12:111661888:C:T p.(Pro488=) NC_000006.12:111661888:C:T p.(Pro488=) NC_000006.12:111661888:C:T Identity +NM_001384165.1:c.132G>A NP_001371094.1:p.Leu44= NC_000017.11:44075028:G:A p.(Leu44=) NC_000017.11:44075028:G:A p.(Leu44=) NC_000017.11:44075028:G:A Identity +NM_024642.5:c.552G>A NP_078918.3:p.Lys184= NC_000009.12:98826761:G:A p.(Lys184=) NC_000009.12:98826761:G:A p.(Lys184=) NC_000009.12:98826761:G:A Identity +NM_001145661.2:c.1131C>T NP_001139133.1:p.Tyr377= NC_000003.12:128481830:G:A p.(Tyr377=) NC_000003.12:128481830:G:A p.(Tyr377=) NC_000003.12:128481830:G:A Identity +NM_021167.5:c.267C>T NP_066990.3:p.His89= NC_000007.14:92448768:C:T p.(His89=) NC_000007.14:92448768:C:T p.(His89=) NC_000007.14:92448768:C:T Identity +NM_001130009.3:c.981A>G NP_001123481.3:p.Pro327= NC_000002.12:17773122:A:G p.(Pro327=) NC_000002.12:17773122:A:G p.(Pro327=) NC_000002.12:17773122:A:G Identity +NM_001130009.3:c.2658C>T NP_001123481.3:p.Asn886= NC_000002.12:17781869:C:T p.(Asn886=) NC_000002.12:17781869:C:T p.(Asn886=) NC_000002.12:17781869:C:T Identity +NM_001130009.3:c.2679C>T NP_001123481.3:p.Ser893= NC_000002.12:17781890:C:T p.(Ser893=) NC_000002.12:17781890:C:T p.(Ser893=) NC_000002.12:17781890:C:T Identity +NM_006118.4:c.147A>C NP_006109.2:p.Pro49= NC_000001.11:154273428:A:C p.(Pro49=) NC_000001.11:154273428:A:C p.(Pro49=) NC_000001.11:154273428:A:C Identity +NM_005477.3:c.1077G>A NP_005468.1:p.Val359= NC_000015.10:73343516:C:T p.(Val359=) NC_000015.10:73343516:C:T p.(Val359=) NC_000015.10:73343516:C:T Identity +NM_006361.6:c.381T>C NP_006352.2:p.Phe127= NC_000017.11:48728212:A:G p.(Phe127=) NC_000017.11:48728212:A:G p.(Phe127=) NC_000017.11:48728212:A:G Identity +NM_001382433.1:c.198G>A NP_001369362.1:p.Glu66= NC_000014.9:104776747:C:T p.(Glu66=) NC_000014.9:104776747:C:T p.(Glu66=) NC_000014.9:104776747:C:T Identity +NM_005886.3:c.1644C>T NP_005877.2:p.Ala548= NC_000016.10:57755991:C:T p.(Ala548=) NC_000016.10:57755991:C:T p.(Ala548=) NC_000016.10:57755991:C:T Identity +NM_000890.5:c.1170T>C NP_000881.3:p.Ala390= NC_000011.10:128916640:T:C p.(Ala390=) NC_000011.10:128916640:T:C p.(Ala390=) NC_000011.10:128916640:T:C Identity +NM_001009999.3:c.234G>A NP_001009999.1:p.Pro78= NC_000001.11:23019829:G:A p.(Pro78=) NC_000001.11:23019829:G:A p.(Pro78=) NC_000001.11:23019829:G:A Identity +NM_001411148.1:c.2136G>A NP_001398077.1:p.Ala712= NC_000019.10:5134009:G:A p.(Ala712=) NC_000019.10:5134009:G:A p.(Ala712=) NC_000019.10:5134009:G:A Identity +NM_001365951.3:c.4095G>T NP_001352880.1:p.Leu1365= NC_000001.11:10360967:G:T p.(Leu1365=) NC_000001.11:10360967:G:T p.(Leu1365=) NC_000001.11:10360967:G:T Identity +NM_001365951.3:c.3219C>T NP_001352880.1:p.Val1073= NC_000001.11:10337162:C:T p.(Val1073=) NC_000001.11:10337162:C:T p.(Val1073=) NC_000001.11:10337162:C:T Identity +NM_001365951.3:c.5088T>C NP_001352880.1:p.Ile1696= NC_000001.11:10374456:T:C p.(Ile1696=) NC_000001.11:10374456:T:C p.(Ile1696=) NC_000001.11:10374456:T:C Identity +NM_000222.3:c.921A>C NP_000213.1:p.Val307= NC_000004.12:54703887:A:C p.(Val307=) NC_000004.12:54703887:A:C p.(Val307=) NC_000004.12:54703887:A:C Identity +NM_000222.3:c.105T>A NP_000213.1:p.Ser35= NC_000004.12:54695548:T:A p.(Ser35=) NC_000004.12:54695548:T:A p.(Ser35=) NC_000004.12:54695548:T:A Identity +NM_001352020.1:c.52C>A NP_001338949.1:p.Arg18= NC_000016.10:970928:G:T p.(Arg18=) NC_000016.10:970928:G:T p.(Arg18=) NC_000016.10:970928:G:T Identity +NM_001130144.3:c.3298C>T NP_001123616.1:p.Leu1100= NC_000011.10:65540099:G:A p.(Leu1100=) NC_000011.10:65540099:G:A p.(Leu1100=) NC_000011.10:65540099:G:A Identity +NM_001276270.2:c.54C>T NP_001263199.1:p.Pro18= NC_000003.12:129439779:G:A p.(Pro18=) NC_000003.12:129439779:G:A p.(Pro18=) NC_000003.12:129439779:G:A Identity +NM_001276270.2:c.429T>C NP_001263199.1:p.Phe143= NC_000003.12:129437214:A:G p.(Phe143=) NC_000003.12:129437214:A:G p.(Phe143=) NC_000003.12:129437214:A:G Identity +NM_001105077.4:c.1239A>G NP_001098547.3:p.Pro413= NC_000003.12:169116263:T:C p.(Pro413=) NC_000003.12:169116263:T:C p.(Pro413=) NC_000003.12:169116263:T:C Identity +NM_001105077.4:c.975C>T NP_001098547.3:p.Thr325= NC_000003.12:169116527:G:A p.(Thr325=) NC_000003.12:169116527:G:A p.(Thr325=) NC_000003.12:169116527:G:A Identity +NM_001282424.3:c.1888C>T NP_001269353.2:p.Leu630= NC_000012.12:8861155:C:T p.(Leu630=) NC_000012.12:8861155:C:T p.(Leu630=) NC_000012.12:8861155:C:T Identity +NM_001105077.4:c.1803C>G NP_001098547.3:p.Pro601= NC_000003.12:169115699:G:C p.(Pro601=) NC_000003.12:169115699:G:C p.(Pro601=) NC_000003.12:169115699:G:C Identity +NM_001105077.4:c.2604C>A NP_001098547.3:p.Thr868= NC_000003.12:169095121:G:T p.(Thr868=) NC_000003.12:169095121:G:T p.(Thr868=) NC_000003.12:169095121:G:T Identity +NM_001105077.4:c.451T>C NP_001098547.3:p.Leu151= NC_000003.12:169127850:A:G p.(Leu151=) NC_000003.12:169127850:A:G p.(Leu151=) NC_000003.12:169127850:A:G Identity +NM_001105077.4:c.1929C>T NP_001098547.3:p.Ala643= NC_000003.12:169115573:G:A p.(Ala643=) NC_000003.12:169115573:G:A p.(Ala643=) NC_000003.12:169115573:G:A Identity +NM_001105077.4:c.1104C>T NP_001098547.3:p.Phe368= NC_000003.12:169116398:G:A p.(Phe368=) NC_000003.12:169116398:G:A p.(Phe368=) NC_000003.12:169116398:G:A Identity +NM_000245.4:c.213T>C NP_000236.2:p.Tyr71= NC_000007.14:116699296:T:C p.(Tyr71=) NC_000007.14:116699296:T:C p.(Tyr71=) NC_000007.14:116699296:T:C Identity +NM_144670.6:c.402G>A NP_653271.3:p.Gly134= NC_000012.12:8823874:G:A p.(Gly134=) NC_000012.12:8823874:G:A p.(Gly134=) NC_000012.12:8823874:G:A Identity +NM_000248.4:c.951A>G NP_000239.1:p.Gln317= NC_000003.12:69964938:A:G p.(Gln317=) NC_000003.12:69964938:A:G p.(Gln317=) NC_000003.12:69964938:A:G Identity +NM_000248.4:c.1038C>T NP_000239.1:p.Gly346= NC_000003.12:69965025:C:T p.(Gly346=) NC_000003.12:69965025:C:T p.(Gly346=) NC_000003.12:69965025:C:T Identity +NM_001040108.2:c.18A>G NP_001035197.1:p.Ser6= NC_000014.9:75049637:T:C p.(Ser6=) NC_000014.9:75049637:T:C p.(Ser6=) NC_000014.9:75049637:T:C Identity +NM_001040108.2:c.1989T>C NP_001035197.1:p.Ser663= NC_000014.9:75047666:A:G p.(Ser663=) NC_000014.9:75047666:A:G p.(Ser663=) NC_000014.9:75047666:A:G Identity +NM_001040108.2:c.3177C>T NP_001035197.1:p.Asn1059= NC_000014.9:75046478:G:A p.(Asn1059=) NC_000014.9:75046478:G:A p.(Asn1059=) NC_000014.9:75046478:G:A Identity +NM_001080453.3:c.3741C>T NP_001073922.2:p.Phe1247= NC_000007.14:1481450:G:A p.(Phe1247=) NC_000007.14:1481450:G:A p.(Phe1247=) NC_000007.14:1481450:G:A Identity +NM_001377273.1:c.3768T>C NP_001364202.1:p.Leu1256= NC_000012.12:21818152:A:G p.(Leu1256=) NC_000012.12:21818152:A:G p.(Leu1256=) NC_000012.12:21818152:A:G Identity +NM_001035.3:c.1134C>T NP_001026.2:p.Asp378= NC_000001.11:237441446:C:T p.(Asp378=) NC_000001.11:237441446:C:T p.(Asp378=) NC_000001.11:237441446:C:T Identity +NM_000256.3:c.1467C>T NP_000247.2:p.Asp489= NC_000011.10:47342734:G:A p.(Asp489=) NC_000011.10:47342734:G:A p.(Asp489=) NC_000011.10:47342734:G:A Identity +NM_000256.3:c.2196C>T NP_000247.2:p.Asp732= NC_000011.10:47338631:G:A p.(Asp732=) NC_000011.10:47338631:G:A p.(Asp732=) NC_000011.10:47338631:G:A Identity +NM_000257.4:c.4806C>T NP_000248.2:p.Asp1602= NC_000014.9:23416150:G:A p.(Asp1602=) NC_000014.9:23416150:G:A p.(Asp1602=) NC_000014.9:23416150:G:A Identity +NM_001035.3:c.13740G>A NP_001026.2:p.Thr4580= NC_000001.11:237792280:G:A p.(Thr4580=) NC_000001.11:237792280:G:A p.(Thr4580=) NC_000001.11:237792280:G:A Identity +NM_001035.3:c.4605G>A NP_001026.2:p.Pro1535= NC_000001.11:237602032:G:A p.(Pro1535=) NC_000001.11:237602032:G:A p.(Pro1535=) NC_000001.11:237602032:G:A Identity +NM_001035.3:c.4740G>A NP_001026.2:p.Pro1580= NC_000001.11:237610817:G:A p.(Pro1580=) NC_000001.11:237610817:G:A p.(Pro1580=) NC_000001.11:237610817:G:A Identity +NM_001103.4:c.2610G>A NP_001094.1:p.Ser870= NC_000001.11:236762543:G:A p.(Ser870=) NC_000001.11:236762543:G:A p.(Ser870=) NC_000001.11:236762543:G:A Identity +NM_001134363.3:c.125AGC[3] NP_001127835.2:p.Gln43dup NC_000010.11:110644576:GCAGCAGC:GCAGCAGCAGC p.(Gln43dup) NC_000010.11:110644578:A:AGCAGCAGC ERR:Parse ERR:Parse Identity +NM_003673.4:c.132C>T NP_003664.1:p.Asp44= NC_000017.11:39665736:C:T p.(Asp44=) NC_000017.11:39665736:C:T p.(Asp44=) NC_000017.11:39665736:C:T Identity +NM_001008844.3:c.3123C>T NP_001008844.1:p.Leu1041= NC_000006.12:7579312:C:T p.(Leu1041=) NC_000006.12:7579312:C:T p.(Leu1041=) NC_000006.12:7579312:C:T Identity +NM_001008844.3:c.3510G>A NP_001008844.1:p.Glu1170= NC_000006.12:7579699:G:A p.(Glu1170=) NC_000006.12:7579699:G:A p.(Glu1170=) NC_000006.12:7579699:G:A Identity +NM_001319034.2:c.3696C>A NP_001305963.1:p.Ser1232= NC_000006.12:7579885:C:A p.(Ser1232=) NC_000006.12:7579885:C:A p.(Ser1232=) NC_000006.12:7579885:C:A Identity +NM_001008844.3:c.6378C>A NP_001008844.1:p.Arg2126= NC_000006.12:7585436:C:A p.(Arg2126=) NC_000006.12:7585436:C:A p.(Arg2126=) NC_000006.12:7585436:C:A Identity +NM_001008844.3:c.6675G>C NP_001008844.1:p.Gly2225= NC_000006.12:7585733:G:C p.(Gly2225=) NC_000006.12:7585733:G:C p.(Gly2225=) NC_000006.12:7585733:G:C Identity +NM_001377273.1:c.4062G>A NP_001364202.1:p.Ser1354= NC_000012.12:21814683:C:T p.(Ser1354=) NC_000012.12:21814683:C:T p.(Ser1354=) NC_000012.12:21814683:C:T Identity +NM_003373.4:c.945C>A NP_003364.1:p.Gly315= NC_000010.11:74083435:C:A p.(Gly315=) NC_000010.11:74083435:C:A p.(Gly315=) NC_000010.11:74083435:C:A Identity +NM_004949.5:c.267G>A NP_004940.1:p.Ser89= NC_000018.10:31092187:C:T p.(Ser89=) NC_000018.10:31092187:C:T p.(Ser89=) NC_000018.10:31092187:C:T Identity +NM_001256850.1:c.14766G>A NP_001243779.1:p.Thr4922= NC_000002.12:178733671:C:T p.(Thr4922=) NC_000002.12:178733671:C:T p.(Thr4922=) NC_000002.12:178733671:C:T Identity +NM_001256850.1:c.59037T>A NP_001243779.1:p.Val19679= NC_000002.12:178587250:A:T p.(Val19679=) NC_000002.12:178587250:A:T p.(Val19679=) NC_000002.12:178587250:A:T Identity +NM_001256850.1:c.72282G>A NP_001243779.1:p.Val24094= NC_000002.12:178568926:C:T p.(Val24094=) NC_000002.12:178568926:C:T p.(Val24094=) NC_000002.12:178568926:C:T Identity +NM_001257374.3:c.849G>A NP_001244303.1:p.Ser283= NC_000001.11:156136240:G:A p.(Ser283=) NC_000001.11:156136240:G:A p.(Ser283=) NC_000001.11:156136240:G:A Identity +NM_001257374.3:c.906C>T NP_001244303.1:p.Ser302= NC_000001.11:156136297:C:T p.(Ser302=) NC_000001.11:156136297:C:T p.(Ser302=) NC_000001.11:156136297:C:T Identity +NM_001277115.2:c.2835A>G NP_001264044.1:p.Gln945= NC_000007.14:21599953:A:G p.(Gln945=) NC_000007.14:21599953:A:G p.(Gln945=) NC_000007.14:21599953:A:G Identity +NM_000109.4:c.5157A>T NP_000100.3:p.Ile1719= NC_000023.11:32362931:T:A p.(Ile1719=) NC_000023.11:32362931:T:A p.(Ile1719=) NC_000023.11:32362931:T:A Identity +NM_001005242.3:c.2070C>G NP_001005242.2:p.Thr690= NC_000012.12:32802499:G:C p.(Thr690=) NC_000012.12:32802499:G:C p.(Thr690=) NC_000012.12:32802499:G:C Identity +NM_001277115.2:c.2166A>G NP_001264044.1:p.Pro722= NC_000007.14:21589399:A:G p.(Pro722=) NC_000007.14:21589399:A:G p.(Pro722=) NC_000007.14:21589399:A:G Identity +NM_001369.3:c.3987A>G NP_001360.1:p.Lys1329= NC_000005.10:13867839:T:C p.(Lys1329=) NC_000005.10:13867839:T:C p.(Lys1329=) NC_000005.10:13867839:T:C Identity +NM_000257.4:c.3829C>A NP_000248.2:p.Arg1277= NC_000014.9:23419506:G:T p.(Arg1277=) NC_000014.9:23419506:G:T p.(Arg1277=) NC_000014.9:23419506:G:T Identity +NM_016599.5:c.768C>A NP_057683.1:p.Thr256= NC_000004.12:119186172:C:A p.(Thr256=) NC_000004.12:119186172:C:A p.(Thr256=) NC_000004.12:119186172:C:A Identity +NM_001256850.1:c.58020T>C NP_001243779.1:p.Thr19340= NC_000002.12:178588781:A:G p.(Thr19340=) NC_000002.12:178588781:A:G p.(Thr19340=) NC_000002.12:178588781:A:G Identity +NM_001256850.1:c.33723C>T NP_001243779.1:p.Pro11241= NC_000002.12:178672644:G:A p.(Pro11241=) NC_000002.12:178672644:G:A p.(Pro11241=) NC_000002.12:178672644:G:A Identity +NM_001005242.3:c.1452G>A NP_001005242.2:p.Thr484= NC_000012.12:32841131:C:T p.(Thr484=) NC_000012.12:32841131:C:T p.(Thr484=) NC_000012.12:32841131:C:T Identity +NM_000257.4:c.930T>C NP_000248.2:p.Tyr310= NC_000014.9:23430628:A:G p.(Tyr310=) NC_000014.9:23430628:A:G p.(Tyr310=) NC_000014.9:23430628:A:G Identity +NM_001256850.1:c.89058C>G NP_001243779.1:p.Val29686= NC_000002.12:178547644:G:C p.(Val29686=) NC_000002.12:178547644:G:C p.(Val29686=) NC_000002.12:178547644:G:C Identity +NM_001277115.2:c.1065A>G NP_001264044.1:p.Pro355= NC_000007.14:21564267:A:G p.(Pro355=) NC_000007.14:21564267:A:G p.(Pro355=) NC_000007.14:21564267:A:G Identity +NM_001277115.2:c.11418C>T NP_001264044.1:p.Phe3806= NC_000007.14:21864578:C:T p.(Phe3806=) NC_000007.14:21864578:C:T p.(Phe3806=) NC_000007.14:21864578:C:T Identity +NM_000256.3:c.1758C>T NP_000247.2:p.Pro586= NC_000011.10:47342022:G:A p.(Pro586=) NC_000011.10:47342022:G:A p.(Pro586=) NC_000011.10:47342022:G:A Identity +LRG_386t1:c.3217dup LRG_386p1:p.Arg1073fs NC_000011.10:47333306:GG:GGG ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_016203.4:c.66C>T NP_057287.2:p.Gly22= NC_000007.14:151876554:G:A p.(Gly22=) NC_000007.14:151876554:G:A p.(Gly22=) NC_000007.14:151876554:G:A Identity +NM_001127487.2:c.1698C>T NP_001120959.1:p.Ser566= NC_000007.14:128840854:C:T p.(Ser566=) NC_000007.14:128840854:C:T p.(Ser566=) NC_000007.14:128840854:C:T Identity +NM_001369.3:c.2355C>T NP_001360.1:p.Leu785= NC_000005.10:13894725:G:A p.(Leu785=) NC_000005.10:13894725:G:A p.(Leu785=) NC_000005.10:13894725:G:A Identity +NM_001943.5:c.829_840del p.Leu277_Met280del NC_000018.10:31524701:GCTTGAAGGGATG:G p.(Leu277_Met280del) NC_000018.10:31524701:GCTTGAAGGGATG:G p.(Leu277_Met280del) NC_000018.10:31524702:CTTGAAGGGATG: "ERR:Parse error: --> 1:1 + | +1 | p.Leu277_Met280del + | ^--- + | + = expected hgvs_variant" +NM_001008844.3:c.1344G>A NP_001008844.1:p.Leu448= NC_000006.12:7568513:G:A p.(Leu448=) NC_000006.12:7568513:G:A p.(Leu448=) NC_000006.12:7568513:G:A Identity +NM_001277115.2:c.13176G>C NP_001264044.1:p.Thr4392= NC_000007.14:21899992:G:C p.(Thr4392=) NC_000007.14:21899992:G:C p.(Thr4392=) NC_000007.14:21899992:G:C Identity +NM_003803.4:c.1890G>A NP_003794.3:p.Glu630= NC_000018.10:3149154:C:T p.(Glu630=) NC_000018.10:3149154:C:T p.(Glu630=) NC_000018.10:3149154:C:T Identity +NM_001114107.5:c.849C>A NP_001107579.1:p.Gly283= NC_000004.12:185502395:G:T p.(Gly283=) NC_000004.12:185502395:G:T p.(Gly283=) NC_000004.12:185502395:G:T Identity +NM_000109.4:c.7572C>T NP_000100.3:p.Thr2524= NC_000023.11:31729694:G:A p.(Thr2524=) NC_000023.11:31729694:G:A p.(Thr2524=) NC_000023.11:31729694:G:A Identity +NM_001008844.3:c.3303C>T NP_001008844.1:p.Tyr1101= NC_000006.12:7579492:C:T p.(Tyr1101=) NC_000006.12:7579492:C:T p.(Tyr1101=) NC_000006.12:7579492:C:T Identity +NM_000257.4:c.2976G>A NP_000248.2:p.Leu992= NC_000014.9:23423669:C:T p.(Leu992=) NC_000014.9:23423669:C:T p.(Leu992=) NC_000014.9:23423669:C:T Identity +NM_133378.4:c.92685C>T NP_596869.4:p.Tyr30895= NC_000002.12:178536357:G:A p.(Tyr30895=) NC_000002.12:178536357:G:A p.(Tyr30895=) NC_000002.12:178536357:G:A Identity +NM_004949.5:c.408A>G NP_004940.1:p.Arg136= NC_000018.10:31091093:T:C p.(Arg136=) NC_000018.10:31091093:T:C p.(Arg136=) NC_000018.10:31091093:T:C Identity +NM_001256850.1:c.69840C>T NP_001243779.1:p.Ser23280= NC_000002.12:178571368:G:A p.(Ser23280=) NC_000002.12:178571368:G:A p.(Ser23280=) NC_000002.12:178571368:G:A Identity +NM_001369.3:c.5184T>C NP_001360.1:p.Ile1728= NC_000005.10:13844923:A:G p.(Ile1728=) NC_000005.10:13844923:A:G p.(Ile1728=) NC_000005.10:13844923:A:G Identity +NM_003280.3:c.456G>A NP_003271.1:p.Glu152= NC_000003.12:52451304:C:T p.(Glu152=) NC_000003.12:52451304:C:T p.(Glu152=) NC_000003.12:52451304:C:T Identity +NM_016599.5:c.480G>A NP_057683.1:p.Pro160= NC_000004.12:119164313:G:A p.(Pro160=) NC_000004.12:119164313:G:A p.(Pro160=) NC_000004.12:119164313:G:A Identity +NM_017802.4:c.30G>A NP_060272.3:p.Val10= NC_000007.14:726749:G:A p.(Val10=) NC_000007.14:726749:G:A p.(Val10=) NC_000007.14:726749:G:A Identity +NM_001172810.3:c.759G>A NP_001166281.1:p.Ala253= NC_000017.11:74299751:G:A p.(Ala253=) NC_000017.11:74299751:G:A p.(Ala253=) NC_000017.11:74299751:G:A Identity +NM_001178010.2:c.333C>T NP_001171481.1:p.Asn111= NC_000022.11:19482817:C:T p.(Asn111=) NC_000022.11:19482817:C:T p.(Asn111=) NC_000022.11:19482817:C:T Identity +NM_000328.3:c.1200T>C NP_000319.1:p.Asn400= NC_000023.11:38299000:A:G p.(Asn400=) NC_000023.11:38299000:A:G p.(Asn400=) NC_000023.11:38299000:A:G Identity +NM_001277115.2:c.297G>T NP_001264044.1:p.Pro99= NC_000007.14:21543541:G:T p.(Pro99=) NC_000007.14:21543541:G:T p.(Pro99=) NC_000007.14:21543541:G:T Identity +NM_001277115.2:c.9939G>A NP_001264044.1:p.Val3313= NC_000007.14:21789254:G:A p.(Val3313=) NC_000007.14:21789254:G:A p.(Val3313=) NC_000007.14:21789254:G:A Identity +NM_001369.3:c.3777G>A NP_001360.1:p.Ala1259= NC_000005.10:13870823:C:T p.(Ala1259=) NC_000005.10:13870823:C:T p.(Ala1259=) NC_000005.10:13870823:C:T Identity +NM_000109.4:c.8823G>A NP_000100.3:p.Lys2941= NC_000023.11:31478195:C:T p.(Lys2941=) NC_000023.11:31478195:C:T p.(Lys2941=) NC_000023.11:31478195:C:T Identity +NM_016616.5:c.1077A>G NP_057700.3:p.Gln359= NC_000007.14:37884384:A:G p.(Gln359=) NC_000007.14:37884384:A:G p.(Gln359=) NC_000007.14:37884384:A:G Identity +NM_001083908.2:c.1851C>T NP_001077377.1:p.Asn617= NC_000014.9:49633298:G:A p.(Asn617=) NC_000014.9:49633298:G:A p.(Asn617=) NC_000014.9:49633298:G:A Identity +NM_001353167.2:c.1380G>T NP_001340096.1:p.Val460= NC_000017.11:74310048:G:T p.(Val460=) NC_000017.11:74310048:G:T p.(Val460=) NC_000017.11:74310048:G:T Identity +NM_181426.2:c.1896A>G NP_852091.1:p.Leu632= NC_000003.12:180631570:T:C p.(Leu632=) NC_000003.12:180631570:T:C p.(Leu632=) NC_000003.12:180631570:T:C Identity +NM_001008844.3:c.4194G>A NP_001008844.1:p.Gly1398= NC_000006.12:7583252:G:A p.(Gly1398=) NC_000006.12:7583252:G:A p.(Gly1398=) NC_000006.12:7583252:G:A Identity +NM_000257.4:c.4134C>T NP_000248.2:p.Asp1378= NC_000014.9:23418244:G:A p.(Asp1378=) NC_000014.9:23418244:G:A p.(Asp1378=) NC_000014.9:23418244:G:A Identity +NM_020433.5:c.972C>T NP_065166.2:p.His324= NC_000020.11:44159814:G:A p.(His324=) NC_000020.11:44159814:G:A p.(His324=) NC_000020.11:44159814:G:A Identity +NM_178452.6:c.735C>T NP_848547.4:p.Pro245= NC_000016.10:84155742:C:T p.(Pro245=) NC_000016.10:84155742:C:T p.(Pro245=) NC_000016.10:84155742:C:T Identity +LRG_402t1:c.2772G>A LRG_402p1:p.Leu924= NC_000001.11:237511740:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_002471.4:c.675C>T NP_002462.2:p.Asn225= NC_000014.9:23404355:G:A p.(Asn225=) NC_000014.9:23404355:G:A p.(Asn225=) NC_000014.9:23404355:G:A Identity +NM_004949.5:c.2430G>A NP_004940.1:p.Arg810= NC_000018.10:31068971:C:T p.(Arg810=) NC_000018.10:31068971:C:T p.(Arg810=) NC_000018.10:31068971:C:T Identity +NM_001943.5:c.147C>T NP_001934.2:p.Arg49= NC_000018.10:31519867:C:T p.(Arg49=) NC_000018.10:31519867:C:T p.(Arg49=) NC_000018.10:31519867:C:T Identity +NM_181426.2:c.42G>A NP_852091.1:p.Gly14= NC_000003.12:180679338:C:T p.(Gly14=) NC_000003.12:180679338:C:T p.(Gly14=) NC_000003.12:180679338:C:T Identity +NM_004415.4:c.5316T>C NP_004406.2:p.Asp1772= NC_000006.12:7581505:T:C p.(Asp1772=) NC_000006.12:7581505:T:C p.(Asp1772=) NC_000006.12:7581505:T:C Identity +NM_001008844.3:c.5751G>A NP_001008844.1:p.Arg1917= NC_000006.12:7584809:G:A p.(Arg1917=) NC_000006.12:7584809:G:A p.(Arg1917=) NC_000006.12:7584809:G:A Identity +NM_000109.4:c.3642T>C NP_000100.3:p.Asn1214= NC_000023.11:32448575:A:G p.(Asn1214=) NC_000023.11:32448575:A:G p.(Asn1214=) NC_000023.11:32448575:A:G Identity +NM_001031681.3:c.519_520del NP_001026851.2:p.Tyr173_Ser174delinsTer NC_000017.11:3656542:ACA:A p.(Tyr173Ter) NC_000017.11:3656542:ACA:A p.(Tyr173Ter) NC_000017.11:3656543:CA: Analogous +LRG_386t1:c.3138G>A LRG_386p1:p.Thr1046= NC_000011.10:47333608:C:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000364.4:c.114G>A NP_000355.2:p.Ala38= NC_000001.11:201368210:C:T p.(Ala38=) NC_000001.11:201368210:C:T p.(Ala38=) NC_000001.11:201368210:C:T Identity +NM_001114107.5:c.246G>A NP_001107579.1:p.Arg82= NC_000004.12:185523445:C:T p.(Arg82=) NC_000004.12:185523445:C:T p.(Arg82=) NC_000004.12:185523445:C:T Identity +NM_000363.5:c.474G>C NP_000354.4:p.Leu158= NC_000019.10:55154104:C:G p.(Leu158=) NC_000019.10:55154104:C:G p.(Leu158=) NC_000019.10:55154104:C:G Identity +NM_001256850.1:c.55731G>A NP_001243779.1:p.Thr18577= NC_000002.12:178591070:C:T p.(Thr18577=) NC_000002.12:178591070:C:T p.(Thr18577=) NC_000002.12:178591070:C:T Identity +NM_001943.5:c.1110T>C NP_001934.2:p.Pro370= NC_000018.10:31531081:T:C p.(Pro370=) NC_000018.10:31531081:T:C p.(Pro370=) NC_000018.10:31531081:T:C Identity +LRG_386t1:c.2895G>A LRG_386p1:p.Gln965= NC_000011.10:47335051:C:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_133378.4:c.26397T>C NP_596869.4:p.His8799= NC_000002.12:178704240:A:G p.(His8799=) NC_000002.12:178704240:A:G p.(His8799=) NC_000002.12:178704240:A:G Identity +NM_001008844.3:c.1725T>C NP_001008844.1:p.Asp575= NC_000006.12:7571405:T:C p.(Asp575=) NC_000006.12:7571405:T:C p.(Asp575=) NC_000006.12:7571405:T:C Identity +NM_001005242.3:c.198G>A NP_001005242.2:p.Arg66= NC_000012.12:32896533:C:T p.(Arg66=) NC_000012.12:32896533:C:T p.(Arg66=) NC_000012.12:32896533:C:T Identity +NM_145038.5:c.675T>C NP_659475.2:p.Ile225= NC_000002.12:26429761:T:C p.(Ile225=) NC_000002.12:26429761:T:C p.(Ile225=) NC_000002.12:26429761:T:C Identity +NM_000257.4:c.4083T>G NP_000248.2:p.Leu1361= NC_000014.9:23418295:A:C p.(Leu1361=) NC_000014.9:23418295:A:C p.(Leu1361=) NC_000014.9:23418295:A:C Identity +NM_001232.4:c.423A>G NP_001223.2:p.Leu141= NC_000001.11:115738332:T:C p.(Leu141=) NC_000001.11:115738332:T:C p.(Leu141=) NC_000001.11:115738332:T:C Identity +NM_003803.4:c.2469C>G NP_003794.3:p.Ser823= NC_000018.10:3131411:G:C p.(Ser823=) NC_000018.10:3131411:G:C p.(Ser823=) NC_000018.10:3131411:G:C Identity +NM_003803.4:c.822C>T NP_003794.3:p.Leu274= NC_000018.10:3187586:G:A p.(Leu274=) NC_000018.10:3187586:G:A p.(Leu274=) NC_000018.10:3187586:G:A Identity +NM_001256714.1:c.1428G>A NP_001243643.1:p.Val476= NC_000019.10:55159543:C:T p.(Val476=) NC_000019.10:55159543:C:T p.(Val476=) NC_000019.10:55159543:C:T Identity +NM_001277115.2:c.3201T>C NP_001264044.1:p.His1067= NC_000007.14:21600875:T:C p.(His1067=) NC_000007.14:21600875:T:C p.(His1067=) NC_000007.14:21600875:T:C Identity +NM_001290020.2:c.2127C>T NP_001276949.1:p.Leu709= NC_000010.11:27936850:G:A p.(Leu709=) NC_000010.11:27936850:G:A p.(Leu709=) NC_000010.11:27936850:G:A Identity +NM_001034853.2:c.2898G>A NP_001030025.1:p.Gly966= NC_000023.11:38286100:C:T p.(Gly966=) NC_000023.11:38286100:C:T p.(Gly966=) NC_000023.11:38286100:C:T Identity +NM_001206927.2:c.2037A>G NP_001193856.1:p.Gln679= NC_000006.12:38778461:A:G p.(Gln679=) NC_000006.12:38778461:A:G p.(Gln679=) NC_000006.12:38778461:A:G Identity +NM_001369.3:c.1584G>A NP_001360.1:p.Gln528= NC_000005.10:13911445:C:T p.(Gln528=) NC_000005.10:13911445:C:T p.(Gln528=) NC_000005.10:13911445:C:T Identity +NM_001369.3:c.6813C>T NP_001360.1:p.Cys2271= NC_000005.10:13820373:G:A p.(Cys2271=) NC_000005.10:13820373:G:A p.(Cys2271=) NC_000005.10:13820373:G:A Identity +NM_001281428.2:c.2031G>A NP_001268357.1:p.Glu677= NC_000009.12:34520674:G:A p.(Glu677=) NC_000009.12:34520674:G:A p.(Glu677=) NC_000009.12:34520674:G:A Identity +NM_001364171.2:c.2067_2084dup NP_001351100.1:p.Ala692_Pro697dup NC_000019.10:48297015:GTGCTGGAGGCAGGGCCGGTGCTGGAG:GTGCTGGAGGCAGGGCCGGTGCTGGAGGCAGGGCCGGTGCTGGAG p.(Ala692_Pro697dup) NC_000019.10:48297015:GTGCTGGAGGCAGGGCCGGTGCTGGAG:GTGCTGGAGGCAGGGCCGGTGCTGGAGGCAGGGCCGGTGCTGGAG p.(Ala692_Pro697dup) ERR:SPDI Identity +NM_145038.5:c.2223A>C NP_659475.2:p.Ter741Cys NC_000002.12:26456516:A:C p.(Ter741CysextTer13) NC_000002.12:26456516:A:C p.(Ter741CysextTer13) NC_000002.12:26456516:A:C Analogous +NM_000109.4:c.3153C>T NP_000100.3:p.Thr1051= NC_000023.11:32464684:G:A p.(Thr1051=) NC_000023.11:32464684:G:A p.(Thr1051=) NC_000023.11:32464684:G:A Identity +NM_000109.4:c.7027T>C NP_000100.3:p.Leu2343= NC_000023.11:31875234:A:G p.(Leu2343=) NC_000023.11:31875234:A:G p.(Leu2343=) NC_000023.11:31875234:A:G Identity +NM_001256850.1:c.80940T>C NP_001243779.1:p.Tyr26980= NC_000002.12:178560268:A:G p.(Tyr26980=) NC_000002.12:178560268:A:G p.(Tyr26980=) NC_000002.12:178560268:A:G Identity +NM_016616.5:c.126C>T NP_057700.3:p.Cys42= NC_000007.14:37850662:C:T p.(Cys42=) NC_000007.14:37850662:C:T p.(Cys42=) NC_000007.14:37850662:C:T Identity +NM_000364.4:c.390C>T NP_000355.2:p.Leu130= NC_000001.11:201365211:G:A p.(Leu130=) NC_000001.11:201365211:G:A p.(Leu130=) NC_000001.11:201365211:G:A Identity +NM_001127487.2:c.6615C>T NP_001120959.1:p.Thr2205= NC_000007.14:128854202:C:T p.(Thr2205=) NC_000007.14:128854202:C:T p.(Thr2205=) NC_000007.14:128854202:C:T Identity +NM_001257374.3:c.534G>A NP_001244303.1:p.Glu178= NC_000001.11:156135245:G:A p.(Glu178=) NC_000001.11:156135245:G:A p.(Glu178=) NC_000001.11:156135245:G:A Identity +NM_001005242.3:c.2217G>A NP_001005242.2:p.Pro739= NC_000012.12:32796248:C:T p.(Pro739=) NC_000012.12:32796248:C:T p.(Pro739=) NC_000012.12:32796248:C:T Identity +NM_000366.6:c.144G>A NP_000357.3:p.Lys48= NC_000015.10:63044055:G:A p.(Lys48=) NC_000015.10:63044055:G:A p.(Lys48=) NC_000015.10:63044055:G:A Identity +NM_024334.3:c.747C>T NP_077310.1:p.Ser249= NC_000003.12:14135198:C:T p.(Ser249=) NC_000003.12:14135198:C:T p.(Ser249=) NC_000003.12:14135198:C:T Identity +NM_000109.4:c.10248G>A NP_000100.3:p.Ser3416= NC_000023.11:31173594:C:T p.(Ser3416=) NC_000023.11:31173594:C:T p.(Ser3416=) NC_000023.11:31173594:C:T Identity +LRG_386t1:c.567C>G LRG_386p1:p.Val189= NC_000011.10:47349860:G:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001256850.1:c.44526A>G NP_001243779.1:p.Thr14842= NC_000002.12:178613833:T:C p.(Thr14842=) NC_000002.12:178613833:T:C p.(Thr14842=) NC_000002.12:178613833:T:C Identity +NM_001008844.3:c.6480C>T NP_001008844.1:p.Arg2160= NC_000006.12:7585538:C:T p.(Arg2160=) NC_000006.12:7585538:C:T p.(Arg2160=) NC_000006.12:7585538:C:T Identity +LRG_402t1:c.10452G>T LRG_402p1:p.Gly3484= NC_000001.11:237717325:G:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.5835C>T LRG_402p1:p.Asn1945= NC_000001.11:237617404:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_004949.5:c.2104T>C NP_004940.1:p.Leu702= NC_000018.10:31071625:A:G p.(Leu702=) NC_000018.10:31071625:A:G p.(Leu702=) NC_000018.10:31071625:A:G Identity +NM_004415.4:c.4983C>T NP_004406.2:p.Val1661= NC_000006.12:7581172:C:T p.(Val1661=) NC_000006.12:7581172:C:T p.(Val1661=) NC_000006.12:7581172:C:T Identity +NM_000363.5:c.160C>T NP_000354.4:p.Leu54= NC_000019.10:55156322:G:A p.(Leu54=) NC_000019.10:55156322:G:A p.(Leu54=) NC_000019.10:55156322:G:A Identity +NM_000257.4:c.4500G>A NP_000248.2:p.Arg1500= NC_000014.9:23417171:C:T p.(Arg1500=) NC_000014.9:23417171:C:T p.(Arg1500=) NC_000014.9:23417171:C:T Identity +NM_020433.5:c.942C>T NP_065166.2:p.Tyr314= NC_000020.11:44159844:G:A p.(Tyr314=) NC_000020.11:44159844:G:A p.(Tyr314=) NC_000020.11:44159844:G:A Identity +NM_000363.5:c.45A>C NP_000354.4:p.Ala15= NC_000019.10:55157112:T:G p.(Ala15=) NC_000019.10:55157112:T:G p.(Ala15=) NC_000019.10:55157112:T:G Identity +NM_001286506.2:c.579G>A NP_001273435.1:p.Thr193= NC_000021.9:42477324:C:T p.(Thr193=) NC_000021.9:42477324:C:T p.(Thr193=) NC_000021.9:42477324:C:T Identity +NM_001277115.2:c.612C>A NP_001264044.1:p.Gly204= NC_000007.14:21558917:C:A p.(Gly204=) NC_000007.14:21558917:C:A p.(Gly204=) NC_000007.14:21558917:C:A Identity +NM_001369.3:c.13779G>A NP_001360.1:p.Thr4593= NC_000005.10:13692079:C:T p.(Thr4593=) NC_000005.10:13692079:C:T p.(Thr4593=) NC_000005.10:13692079:C:T Identity +NM_001277115.2:c.10740C>G NP_001264044.1:p.Arg3580= NC_000007.14:21842591:C:G p.(Arg3580=) NC_000007.14:21842591:C:G p.(Arg3580=) NC_000007.14:21842591:C:G Identity +NM_001243342.2:c.660C>T NP_001230271.1:p.Phe220= NC_000017.11:80047385:C:T p.(Phe220=) NC_000017.11:80047385:C:T p.(Phe220=) NC_000017.11:80047385:C:T Identity +NM_001206927.2:c.3375C>T NP_001193856.1:p.Asn1125= NC_000006.12:38815508:C:T p.(Asn1125=) NC_000006.12:38815508:C:T p.(Asn1125=) NC_000006.12:38815508:C:T Identity +NM_001190787.3:c.93C>G NP_001177716.1:p.Leu31= NC_000005.10:55227045:G:C p.(Leu31=) NC_000005.10:55227045:G:C p.(Leu31=) NC_000005.10:55227045:G:C Identity +NM_001206927.2:c.13083G>A NP_001193856.1:p.Pro4361= NC_000006.12:38990040:G:A p.(Pro4361=) NC_000006.12:38990040:G:A p.(Pro4361=) NC_000006.12:38990040:G:A Identity +LRG_402t1:c.13410C>T LRG_402p1:p.Tyr4470= NC_000001.11:237788068:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001127487.2:c.6765C>T NP_001120959.1:p.Val2255= NC_000007.14:128854548:C:T p.(Val2255=) NC_000007.14:128854548:C:T p.(Val2255=) NC_000007.14:128854548:C:T Identity +NM_001257374.3:c.1194C>T NP_001244303.1:p.Thr398= NC_000001.11:156137153:C:T p.(Thr398=) NC_000001.11:156137153:C:T p.(Thr398=) NC_000001.11:156137153:C:T Identity +NM_001039492.3:c.141C>T NP_001034581.1:p.Ile47= NC_000002.12:105386375:G:A p.(Ile47=) NC_000002.12:105386375:G:A p.(Ile47=) NC_000002.12:105386375:G:A Identity +NM_001927.4:c.516G>A NP_001918.3:p.Gln172= NC_000002.12:219418977:G:A p.(Gln172=) NC_000002.12:219418977:G:A p.(Gln172=) NC_000002.12:219418977:G:A Identity +LRG_386t1:c.2034T>C LRG_386p1:p.Ala678= NC_000011.10:47339683:A:G ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001005242.3:c.1377A>T NP_001005242.2:p.Thr459= NC_000012.12:32850766:T:A p.(Thr459=) NC_000012.12:32850766:T:A p.(Thr459=) NC_000012.12:32850766:T:A Identity +LRG_386t1:c.2391C>T LRG_386p1:p.Tyr797= NC_000011.10:47337711:G:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_016616.5:c.967C>A NP_057700.3:p.Arg323= NC_000007.14:37876979:C:A p.(Arg323=) NC_000007.14:37876979:C:A p.(Arg323=) NC_000007.14:37876979:C:A Identity +NM_001277115.2:c.13494C>T NP_001264044.1:p.Ser4498= NC_000007.14:21901196:C:T p.(Ser4498=) NC_000007.14:21901196:C:T p.(Ser4498=) NC_000007.14:21901196:C:T Identity +NM_000256.3:c.150C>T NP_000247.2:p.Ser50= NC_000011.10:47351380:G:A p.(Ser50=) NC_000011.10:47351380:G:A p.(Ser50=) NC_000011.10:47351380:G:A Identity +NM_017950.4:c.3045C>T NP_060420.2:p.Thr1015= NC_000017.11:80097267:C:T p.(Thr1015=) NC_000017.11:80097267:C:T p.(Thr1015=) NC_000017.11:80097267:C:T Identity +NM_181426.2:c.267T>C NP_852091.1:p.Ile89= NC_000003.12:180661950:A:G p.(Ile89=) NC_000003.12:180661950:A:G p.(Ile89=) NC_000003.12:180661950:A:G Identity +NM_001206927.2:c.10818G>A NP_001193856.1:p.Thr3606= NC_000006.12:38924017:G:A p.(Thr3606=) NC_000006.12:38924017:G:A p.(Thr3606=) NC_000006.12:38924017:G:A Identity +NM_001005242.3:c.582T>C NP_001005242.2:p.Tyr194= NC_000012.12:32878297:A:G p.(Tyr194=) NC_000012.12:32878297:A:G p.(Tyr194=) NC_000012.12:32878297:A:G Identity +NM_001256850.1:c.12330C>T NP_001243779.1:p.Val4110= NC_000002.12:178739951:G:A p.(Val4110=) NC_000002.12:178739951:G:A p.(Val4110=) NC_000002.12:178739951:G:A Identity +NM_001172810.3:c.1662C>T NP_001166281.1:p.Asp554= NC_000017.11:74312205:C:T p.(Asp554=) NC_000017.11:74312205:C:T p.(Asp554=) NC_000017.11:74312205:C:T Identity +NM_000366.6:c.87G>A NP_000357.3:p.Lys29= NC_000015.10:63042915:G:A p.(Lys29=) NC_000015.10:63042915:G:A p.(Lys29=) NC_000015.10:63042915:G:A Identity +NM_001369.3:c.6528G>T NP_001360.1:p.Thr2176= NC_000005.10:13824249:C:A p.(Thr2176=) NC_000005.10:13824249:C:A p.(Thr2176=) NC_000005.10:13824249:C:A Identity +NM_001369.3:c.9171A>G NP_001360.1:p.Lys3057= NC_000005.10:13776640:T:C p.(Lys3057=) NC_000005.10:13776640:T:C p.(Lys3057=) NC_000005.10:13776640:T:C Identity +NM_001035.3:c.3270C>G NP_001026.2:p.Ala1090= NC_000001.11:237566621:C:G p.(Ala1090=) NC_000001.11:237566621:C:G p.(Ala1090=) NC_000001.11:237566621:C:G Identity +NM_001277115.2:c.11712G>C NP_001264044.1:p.Leu3904= NC_000007.14:21867879:G:C p.(Leu3904=) NC_000007.14:21867879:G:C p.(Leu3904=) NC_000007.14:21867879:G:C Identity +NM_001083908.2:c.2187A>G NP_001077377.1:p.Glu729= NC_000014.9:49625724:T:C p.(Glu729=) NC_000014.9:49625724:T:C p.(Glu729=) NC_000014.9:49625724:T:C Identity +NM_000335.5:c.3147C>T NP_000326.2:p.Ile1049= NC_000003.12:38581011:G:A p.(Ile1049=) NC_000003.12:38581011:G:A p.(Ile1049=) NC_000003.12:38581011:G:A Identity +NM_001286506.2:c.399T>C NP_001273435.1:p.Pro133= NC_000021.9:42482696:A:G p.(Pro133=) NC_000021.9:42482696:A:G p.(Pro133=) NC_000021.9:42482696:A:G Identity +NM_000256.3:c.2061C>T NP_000247.2:p.Ile687= NC_000011.10:47339656:G:A p.(Ile687=) NC_000011.10:47339656:G:A p.(Ile687=) NC_000011.10:47339656:G:A Identity +NM_005159.5:c.447T>C NP_005150.1:p.Arg149= NC_000015.10:34793251:A:G p.(Arg149=) NC_000015.10:34793251:A:G p.(Arg149=) NC_000015.10:34793251:A:G Identity +NM_001369.3:c.10044C>T NP_001360.1:p.Pro3348= NC_000005.10:13766032:G:A p.(Pro3348=) NC_000005.10:13766032:G:A p.(Pro3348=) NC_000005.10:13766032:G:A Identity +NM_001172810.3:c.657C>T NP_001166281.1:p.Leu219= NC_000017.11:74291065:C:T p.(Leu219=) NC_000017.11:74291065:C:T p.(Leu219=) NC_000017.11:74291065:C:T Identity +NM_001286506.2:c.276C>T NP_001273435.1:p.Tyr92= NC_000021.9:42485779:G:A p.(Tyr92=) NC_000021.9:42485779:G:A p.(Tyr92=) NC_000021.9:42485779:G:A Identity +NM_000257.4:c.4017C>T NP_000248.2:p.Asp1339= NC_000014.9:23418361:G:A p.(Asp1339=) NC_000014.9:23418361:G:A p.(Asp1339=) NC_000014.9:23418361:G:A Identity +NM_000109.4:c.8739C>T NP_000100.3:p.His2913= NC_000023.11:31478279:G:A p.(His2913=) NC_000023.11:31478279:G:A p.(His2913=) NC_000023.11:31478279:G:A Identity +NM_001206927.2:c.14089C>T NP_001193856.1:p.Leu4697= NC_000006.12:39030356:C:T p.(Leu4697=) NC_000006.12:39030356:C:T p.(Leu4697=) NC_000006.12:39030356:C:T Identity +NM_001281428.2:c.975G>A NP_001268357.1:p.Pro325= NC_000009.12:34500782:G:A p.(Pro325=) NC_000009.12:34500782:G:A p.(Pro325=) NC_000009.12:34500782:G:A Identity +NM_001369.3:c.4539C>T NP_001360.1:p.Ser1513= NC_000005.10:13864453:G:A p.(Ser1513=) NC_000005.10:13864453:G:A p.(Ser1513=) NC_000005.10:13864453:G:A Identity +NM_001277115.2:c.6073C>T NP_001264044.1:p.Leu2025= NC_000007.14:21698105:C:T p.(Leu2025=) NC_000007.14:21698105:C:T p.(Leu2025=) NC_000007.14:21698105:C:T Identity +NM_001277115.2:c.7653T>A NP_001264044.1:p.Leu2551= NC_000007.14:21738707:T:A p.(Leu2551=) NC_000007.14:21738707:T:A p.(Leu2551=) NC_000007.14:21738707:T:A Identity +NM_000364.4:c.435C>T NP_000355.2:p.Ala145= NC_000001.11:201364351:G:A p.(Ala145=) NC_000001.11:201364351:G:A p.(Ala145=) NC_000001.11:201364351:G:A Identity +NM_001172810.3:c.324C>T NP_001166281.1:p.Asn108= NC_000017.11:74285179:C:T p.(Asn108=) NC_000017.11:74285179:C:T p.(Asn108=) NC_000017.11:74285179:C:T Identity +NM_000257.4:c.2587C>T NP_000248.2:p.Leu863= NC_000014.9:23424860:G:A p.(Leu863=) NC_000014.9:23424860:G:A p.(Leu863=) NC_000014.9:23424860:G:A Identity +NM_000256.3:c.270C>T NP_000247.2:p.Phe90= NC_000011.10:47351260:G:A p.(Phe90=) NC_000011.10:47351260:G:A p.(Phe90=) NC_000011.10:47351260:G:A Identity +NM_001277115.2:c.9648C>T NP_001264044.1:p.Thr3216= NC_000007.14:21786673:C:T p.(Thr3216=) NC_000007.14:21786673:C:T p.(Thr3216=) NC_000007.14:21786673:C:T Identity +NM_001369.3:c.7353G>A NP_001360.1:p.Glu2451= NC_000005.10:13811700:C:T p.(Glu2451=) NC_000005.10:13811700:C:T p.(Glu2451=) NC_000005.10:13811700:C:T Identity +NM_004949.5:c.1803G>A NP_004940.1:p.Glu601= NC_000018.10:31074767:C:T p.(Glu601=) NC_000018.10:31074767:C:T p.(Glu601=) NC_000018.10:31074767:C:T Identity +NM_000109.4:c.8223A>C NP_000100.3:p.Thr2741= NC_000023.11:31507423:T:G p.(Thr2741=) NC_000023.11:31507423:T:G p.(Thr2741=) NC_000023.11:31507423:T:G Identity +NM_001035.3:c.1575T>C NP_001026.2:p.Ser525= NC_000001.11:237456697:T:C p.(Ser525=) NC_000001.11:237456697:T:C p.(Ser525=) NC_000001.11:237456697:T:C Identity +NM_001369.3:c.1371A>G NP_001360.1:p.Pro457= NC_000005.10:13913907:T:C p.(Pro457=) NC_000005.10:13913907:T:C p.(Pro457=) NC_000005.10:13913907:T:C Identity +NM_001035.3:c.4755C>T NP_001026.2:p.Arg1585= NC_000001.11:237610832:C:T p.(Arg1585=) NC_000001.11:237610832:C:T p.(Arg1585=) NC_000001.11:237610832:C:T Identity +NM_000256.3:c.3471C>T NP_000247.2:p.Pro1157= NC_000011.10:47332832:G:A p.(Pro1157=) NC_000011.10:47332832:G:A p.(Pro1157=) NC_000011.10:47332832:G:A Identity +NM_000070.3:c.1884A>C NP_000061.1:p.Thr628= NC_000015.10:42408293:A:C p.(Thr628=) NC_000015.10:42408293:A:C p.(Thr628=) NC_000015.10:42408293:A:C Identity +NM_001369.3:c.11130T>C NP_001360.1:p.Arg3710= NC_000005.10:13751158:A:G p.(Arg3710=) NC_000005.10:13751158:A:G p.(Arg3710=) NC_000005.10:13751158:A:G Identity +NM_005159.5:c.84G>T NP_005150.1:p.Ala28= NC_000015.10:34794724:C:A p.(Ala28=) NC_000015.10:34794724:C:A p.(Ala28=) NC_000015.10:34794724:C:A Identity +NM_001206927.2:c.8124A>G NP_001193856.1:p.Pro2708= NC_000006.12:38883443:A:G p.(Pro2708=) NC_000006.12:38883443:A:G p.(Pro2708=) NC_000006.12:38883443:A:G Identity +NM_001035.3:c.8919G>A NP_001026.2:p.Gln2973= NC_000001.11:237680478:G:A p.(Gln2973=) NC_000001.11:237680478:G:A p.(Gln2973=) NC_000001.11:237680478:G:A Identity +NM_001369.3:c.3390C>T NP_001360.1:p.Thr1130= NC_000005.10:13876689:G:A p.(Thr1130=) NC_000005.10:13876689:G:A p.(Thr1130=) NC_000005.10:13876689:G:A Identity +NM_001369.3:c.4083C>T NP_001360.1:p.Pro1361= NC_000005.10:13866252:G:A p.(Pro1361=) NC_000005.10:13866252:G:A p.(Pro1361=) NC_000005.10:13866252:G:A Identity +NM_000363.5:c.264G>T NP_000354.4:p.Leu88= NC_000019.10:55156218:C:A p.(Leu88=) NC_000019.10:55156218:C:A p.(Leu88=) NC_000019.10:55156218:C:A Identity +NM_152443.3:c.60A>G NP_689656.2:p.Pro20= NC_000014.9:67722701:A:G p.(Pro20=) NC_000014.9:67722701:A:G p.(Pro20=) NC_000014.9:67722701:A:G Identity +NM_001277115.2:c.9672C>T NP_001264044.1:p.Val3224= NC_000007.14:21786697:C:T p.(Val3224=) NC_000007.14:21786697:C:T p.(Val3224=) NC_000007.14:21786697:C:T Identity +NM_001369.3:c.9123T>C NP_001360.1:p.Ala3041= NC_000005.10:13776688:A:G p.(Ala3041=) NC_000005.10:13776688:A:G p.(Ala3041=) NC_000005.10:13776688:A:G Identity +NM_020433.5:c.405C>T NP_065166.2:p.Asn135= NC_000020.11:44160381:G:A p.(Asn135=) NC_000020.11:44160381:G:A p.(Asn135=) NC_000020.11:44160381:G:A Identity +NM_001008844.3:c.2403G>A NP_001008844.1:p.Leu801= NC_000006.12:7574761:G:A p.(Leu801=) NC_000006.12:7574761:G:A p.(Leu801=) NC_000006.12:7574761:G:A Identity +NM_001083908.2:c.1719A>G NP_001077377.1:p.Gln573= NC_000014.9:49633430:T:C p.(Gln573=) NC_000014.9:49633430:T:C p.(Gln573=) NC_000014.9:49633430:T:C Identity +NM_000257.4:c.4872G>A NP_000248.2:p.Glu1624= NC_000014.9:23416084:C:T p.(Glu1624=) NC_000014.9:23416084:C:T p.(Glu1624=) NC_000014.9:23416084:C:T Identity +NM_001142800.2:c.5436A>C NP_001136272.1:p.Val1812= NC_000006.12:64590430:T:G p.(Val1812=) NC_000006.12:64590430:T:G p.(Val1812=) NC_000006.12:64590430:T:G Identity +NM_001008844.3:c.1848G>A NP_001008844.1:p.Gln616= NC_000006.12:7571528:G:A p.(Gln616=) NC_000006.12:7571528:G:A p.(Gln616=) NC_000006.12:7571528:G:A Identity +NM_001080114.2:c.1566C>A NP_001073583.1:p.Thr522= NC_000010.11:86718764:C:A p.(Thr522=) NC_000010.11:86718764:C:A p.(Thr522=) NC_000010.11:86718764:C:A Identity +NM_000256.3:c.2685C>T NP_000247.2:p.Arg895= NC_000011.10:47335928:G:A p.(Arg895=) NC_000011.10:47335928:G:A p.(Arg895=) NC_000011.10:47335928:G:A Identity +NM_000363.5:c.402C>T NP_000354.4:p.Asp134= NC_000019.10:55154176:G:A p.(Asp134=) NC_000019.10:55154176:G:A p.(Asp134=) NC_000019.10:55154176:G:A Identity +NM_001035.3:c.10662A>T NP_001026.2:p.Ile3554= NC_000001.11:237723234:A:T p.(Ile3554=) NC_000001.11:237723234:A:T p.(Ile3554=) NC_000001.11:237723234:A:T Identity +NM_004949.5:c.561T>C NP_004940.1:p.Tyr187= NC_000018.10:31089507:A:G p.(Tyr187=) NC_000018.10:31089507:A:G p.(Tyr187=) NC_000018.10:31089507:A:G Identity +NM_001008844.3:c.6039C>T NP_001008844.1:p.Thr2013= NC_000006.12:7585097:C:T p.(Thr2013=) NC_000006.12:7585097:C:T p.(Thr2013=) NC_000006.12:7585097:C:T Identity +NM_001035.3:c.11136G>A NP_001026.2:p.Lys3712= NC_000001.11:237742339:G:A p.(Lys3712=) NC_000001.11:237742339:G:A p.(Lys3712=) NC_000001.11:237742339:G:A Identity +NM_004415.4:c.5037C>T NP_004406.2:p.His1679= NC_000006.12:7581226:C:T p.(His1679=) NC_000006.12:7581226:C:T p.(His1679=) NC_000006.12:7581226:C:T Identity +NM_000257.4:c.4665G>A NP_000248.2:p.Glu1555= NC_000014.9:23416291:C:T p.(Glu1555=) NC_000014.9:23416291:C:T p.(Glu1555=) NC_000014.9:23416291:C:T Identity +NM_024334.3:c.900A>G NP_077310.1:p.Glu300= NC_000003.12:14139196:A:G p.(Glu300=) NC_000003.12:14139196:A:G p.(Glu300=) NC_000003.12:14139196:A:G Identity +NM_000256.3:c.1033C>T NP_000247.2:p.Leu345= NC_000011.10:47346263:G:A p.(Leu345=) NC_000011.10:47346263:G:A p.(Leu345=) NC_000011.10:47346263:G:A Identity +NM_001008844.3:c.3705T>C NP_001008844.1:p.Asp1235= NC_000006.12:7582763:T:C p.(Asp1235=) NC_000006.12:7582763:T:C p.(Asp1235=) NC_000006.12:7582763:T:C Identity +NM_000364.4:c.24G>A NP_000355.2:p.Val8= NC_000001.11:201373230:C:T p.(Val8=) NC_000001.11:201373230:C:T p.(Val8=) NC_000001.11:201373230:C:T Identity +NM_000256.3:c.669G>A NP_000247.2:p.Glu223= NC_000011.10:47348526:C:T p.(Glu223=) NC_000011.10:47348526:C:T p.(Glu223=) NC_000011.10:47348526:C:T Identity +NM_001040633.2:c.672C>T NP_001035723.1:p.His224= NC_000007.14:151595404:G:A p.(His224=) NC_000007.14:151595404:G:A p.(His224=) NC_000007.14:151595404:G:A Identity +NM_001008844.3:c.6762A>G NP_001008844.1:p.Thr2254= NC_000006.12:7585820:A:G p.(Thr2254=) NC_000006.12:7585820:A:G p.(Thr2254=) NC_000006.12:7585820:A:G Identity +NM_001008844.3:c.2628T>C NP_001008844.1:p.Phe876= NC_000006.12:7575485:T:C p.(Phe876=) NC_000006.12:7575485:T:C p.(Phe876=) NC_000006.12:7575485:T:C Identity +NM_000256.3:c.1278C>T NP_000247.2:p.Cys426= NC_000011.10:47343093:G:A p.(Cys426=) NC_000011.10:47343093:G:A p.(Cys426=) NC_000011.10:47343093:G:A Identity +NM_004949.5:c.336T>C NP_004940.1:p.Phe112= NC_000018.10:31092118:A:G p.(Phe112=) NC_000018.10:31092118:A:G p.(Phe112=) NC_000018.10:31092118:A:G Identity +NM_000256.3:c.651C>T NP_000247.2:p.Ser217= NC_000011.10:47349776:G:A p.(Ser217=) NC_000011.10:47349776:G:A p.(Ser217=) NC_000011.10:47349776:G:A Identity +NM_001008844.3:c.2265T>C NP_001008844.1:p.Asn755= NC_000006.12:7574219:T:C p.(Asn755=) NC_000006.12:7574219:T:C p.(Asn755=) NC_000006.12:7574219:T:C Identity +NM_000256.3:c.2025G>C NP_000247.2:p.Gly675= NC_000011.10:47339692:C:G p.(Gly675=) NC_000011.10:47339692:C:G p.(Gly675=) NC_000011.10:47339692:C:G Identity +NM_001035.3:c.8757A>G NP_001026.2:p.Lys2919= NC_000001.11:237674772:A:G p.(Lys2919=) NC_000001.11:237674772:A:G p.(Lys2919=) NC_000001.11:237674772:A:G Identity +NM_000257.4:c.3171C>T NP_000248.2:p.Gly1057= NC_000014.9:23422253:G:A p.(Gly1057=) NC_000014.9:23422253:G:A p.(Gly1057=) NC_000014.9:23422253:G:A Identity +NM_001008844.3:c.5853C>T NP_001008844.1:p.Gly1951= NC_000006.12:7584911:C:T p.(Gly1951=) NC_000006.12:7584911:C:T p.(Gly1951=) NC_000006.12:7584911:C:T Identity +NM_004949.5:c.1284G>A NP_004940.1:p.Lys428= NC_000018.10:31080331:C:T p.(Lys428=) NC_000018.10:31080331:C:T p.(Lys428=) NC_000018.10:31080331:C:T Identity +NM_001035.3:c.11358T>C NP_001026.2:p.Asp3786= NC_000001.11:237759807:T:C p.(Asp3786=) NC_000001.11:237759807:T:C p.(Asp3786=) NC_000001.11:237759807:T:C Identity +NM_004415.4:c.4866A>G NP_004406.2:p.Ala1622= NC_000006.12:7581055:A:G p.(Ala1622=) NC_000006.12:7581055:A:G p.(Ala1622=) NC_000006.12:7581055:A:G Identity +NM_001943.5:c.1278A>G NP_001934.2:p.Ala426= NC_000018.10:31531249:A:G p.(Ala426=) NC_000018.10:31531249:A:G p.(Ala426=) NC_000018.10:31531249:A:G Identity +NM_001035.3:c.12747G>A NP_001026.2:p.Arg4249= NC_000001.11:237784458:G:A p.(Arg4249=) NC_000001.11:237784458:G:A p.(Arg4249=) NC_000001.11:237784458:G:A Identity +NM_005159.5:c.117C>T NP_005150.1:p.Arg39= NC_000015.10:34794691:G:A p.(Arg39=) NC_000015.10:34794691:G:A p.(Arg39=) NC_000015.10:34794691:G:A Identity +NM_001943.5:c.1536T>C NP_001934.2:p.Tyr512= NC_000018.10:31536313:T:C p.(Tyr512=) NC_000018.10:31536313:T:C p.(Tyr512=) NC_000018.10:31536313:T:C Identity +NM_004572.4:c.1431C>T NP_004563.2:p.His477= NC_000012.12:32843260:G:A p.(His477=) NC_000012.12:32843260:G:A p.(His477=) NC_000012.12:32843260:G:A Identity +NM_000256.3:c.619C>T NP_000247.2:p.Leu207= NC_000011.10:47349808:G:A p.(Leu207=) NC_000011.10:47349808:G:A p.(Leu207=) NC_000011.10:47349808:G:A Identity +NM_001035.3:c.10725G>A NP_001026.2:p.Leu3575= NC_000001.11:237726307:G:A p.(Leu3575=) NC_000001.11:237726307:G:A p.(Leu3575=) NC_000001.11:237726307:G:A Identity +NM_001008844.3:c.5487A>G NP_001008844.1:p.Gln1829= NC_000006.12:7584545:A:G p.(Gln1829=) NC_000006.12:7584545:A:G p.(Gln1829=) NC_000006.12:7584545:A:G Identity +NM_001318756.1:c.564G>A NP_001305685.1:p.Ser188= NC_000016.10:84170099:G:A p.(Ser188=) NC_000016.10:84170099:G:A p.(Ser188=) NC_000016.10:84170099:G:A Identity +NM_000363.5:c.484C>A NP_000354.4:p.Arg162= NC_000019.10:55154094:G:T p.(Arg162=) NC_000019.10:55154094:G:T p.(Arg162=) NC_000019.10:55154094:G:T Identity +NM_001369.3:c.8871G>T NP_001360.1:p.Val2957= NC_000005.10:13780908:C:A p.(Val2957=) NC_000005.10:13780908:C:A p.(Val2957=) NC_000005.10:13780908:C:A Identity +NM_001364171.2:c.657C>T NP_001351100.1:p.Tyr219= NC_000019.10:48306263:G:A p.(Tyr219=) NC_000019.10:48306263:G:A p.(Tyr219=) NC_000019.10:48306263:G:A Identity +NM_001127671.2:c.2604C>T NP_001121143.1:p.Thr868= NC_000005.10:38482654:G:A p.(Thr868=) NC_000005.10:38482654:G:A p.(Thr868=) NC_000005.10:38482654:G:A Identity +NM_001369.3:c.5676T>A NP_001360.1:p.Ile1892= NC_000005.10:13840938:A:T p.(Ile1892=) NC_000005.10:13840938:A:T p.(Ile1892=) NC_000005.10:13840938:A:T Identity +NM_001008844.3:c.5124C>T NP_001008844.1:p.Asn1708= NC_000006.12:7584182:C:T p.(Asn1708=) NC_000006.12:7584182:C:T p.(Asn1708=) NC_000006.12:7584182:C:T Identity +NM_001369.3:c.3624T>C NP_001360.1:p.Ala1208= NC_000005.10:13870976:A:G p.(Ala1208=) NC_000005.10:13870976:A:G p.(Ala1208=) NC_000005.10:13870976:A:G Identity +NM_006623.4:c.270G>A NP_006614.2:p.Arg90= NC_000001.11:119721300:G:A p.(Arg90=) NC_000001.11:119721300:G:A p.(Arg90=) NC_000001.11:119721300:G:A Identity +NM_001369.3:c.8505A>G NP_001360.1:p.Thr2835= NC_000005.10:13788857:T:C p.(Thr2835=) NC_000005.10:13788857:T:C p.(Thr2835=) NC_000005.10:13788857:T:C Identity +NM_001258395.2:c.567G>A NP_001245324.1:p.Glu189= NC_000017.11:44902654:G:A p.(Glu189=) NC_000017.11:44902654:G:A p.(Glu189=) NC_000017.11:44902654:G:A Identity +NM_001316767.2:c.510C>G NP_001303696.1:p.Leu170= NC_000001.11:146018169:G:C p.(Leu170=) NC_000001.11:146018169:G:C p.(Leu170=) NC_000001.11:146018169:G:C Identity +NM_001206927.2:c.102G>A NP_001193856.1:p.Pro34= NC_000006.12:38722910:G:A p.(Pro34=) NC_000006.12:38722910:G:A p.(Pro34=) NC_000006.12:38722910:G:A Identity +NM_001369.3:c.867C>T NP_001360.1:p.His289= NC_000005.10:13919283:G:A p.(His289=) NC_000005.10:13919283:G:A p.(His289=) NC_000005.10:13919283:G:A Identity +NM_003803.4:c.840C>A NP_003794.3:p.Ile280= NC_000018.10:3187568:G:T p.(Ile280=) NC_000018.10:3187568:G:T p.(Ile280=) NC_000018.10:3187568:G:T Identity +NM_001206927.2:c.10548C>A NP_001193856.1:p.Gly3516= NC_000006.12:38921391:C:A p.(Gly3516=) NC_000006.12:38921391:C:A p.(Gly3516=) NC_000006.12:38921391:C:A Identity +NM_000383.4:c.615C>G NP_000374.1:p.Ala205= NC_000021.9:44288420:C:G p.(Ala205=) NC_000021.9:44288420:C:G p.(Ala205=) NC_000021.9:44288420:C:G Identity +NM_001281428.2:c.1650G>T NP_001268357.1:p.Val550= NC_000009.12:34514461:G:T p.(Val550=) NC_000009.12:34514461:G:T p.(Val550=) NC_000009.12:34514461:G:T Identity +NM_001369.3:c.921G>A NP_001360.1:p.Pro307= NC_000005.10:13919229:C:T p.(Pro307=) NC_000005.10:13919229:C:T p.(Pro307=) NC_000005.10:13919229:C:T Identity +NM_000109.4:c.531T>C NP_000100.3:p.Ser177= NC_000023.11:32809586:A:G p.(Ser177=) NC_000023.11:32809586:A:G p.(Ser177=) NC_000023.11:32809586:A:G Identity +NM_001145770.3:c.315T>C NP_001139242.1:p.Tyr105= NC_000016.10:57651449:T:C p.(Tyr105=) NC_000016.10:57651449:T:C p.(Tyr105=) NC_000016.10:57651449:T:C Identity +NM_001206927.2:c.6847C>T NP_001193856.1:p.Leu2283= NC_000006.12:38870418:C:T p.(Leu2283=) NC_000006.12:38870418:C:T p.(Leu2283=) NC_000006.12:38870418:C:T Identity +NM_001369.3:c.2970A>G NP_001360.1:p.Thr990= NC_000005.10:13885001:T:C p.(Thr990=) NC_000005.10:13885001:T:C p.(Thr990=) NC_000005.10:13885001:T:C Identity +NM_001130455.2:c.708G>A NP_001123927.1:p.Val236= NC_000002.12:71515663:G:A p.(Val236=) NC_000002.12:71515663:G:A p.(Val236=) NC_000002.12:71515663:G:A Identity +NM_001281428.2:c.108A>G NP_001268357.1:p.Gly36= NC_000009.12:34485167:A:G p.(Gly36=) NC_000009.12:34485167:A:G p.(Gly36=) NC_000009.12:34485167:A:G Identity +NM_001172810.3:c.978A>G NP_001166281.1:p.Glu326= NC_000017.11:74301158:A:G p.(Glu326=) NC_000017.11:74301158:A:G p.(Glu326=) NC_000017.11:74301158:A:G Identity +NM_001277115.2:c.6639C>G NP_001264044.1:p.Leu2213= NC_000007.14:21707790:C:G p.(Leu2213=) NC_000007.14:21707790:C:G p.(Leu2213=) NC_000007.14:21707790:C:G Identity +NM_001369.3:c.8994G>A NP_001360.1:p.Leu2998= NC_000005.10:13777312:C:T p.(Leu2998=) NC_000005.10:13777312:C:T p.(Leu2998=) NC_000005.10:13777312:C:T Identity +NM_001042465.3:c.594C>T NP_001035930.1:p.Cys198= NC_000010.11:71828139:G:A p.(Cys198=) NC_000010.11:71828139:G:A p.(Cys198=) NC_000010.11:71828139:G:A Identity +NM_000256.3:c.1476G>A NP_000247.2:p.Glu492= NC_000011.10:47342725:C:T p.(Glu492=) NC_000011.10:47342725:C:T p.(Glu492=) NC_000011.10:47342725:C:T Identity +NM_001369.3:c.3405T>C NP_001360.1:p.Ile1135= NC_000005.10:13871756:A:G p.(Ile1135=) NC_000005.10:13871756:A:G p.(Ile1135=) NC_000005.10:13871756:A:G Identity +NM_025114.4:c.4486C>T NP_079390.3:p.Leu1496= NC_000012.12:88084803:G:A p.(Leu1496=) NC_000012.12:88084803:G:A p.(Leu1496=) NC_000012.12:88084803:G:A Identity +NM_001172810.3:c.957G>A NP_001166281.1:p.Gly319= NC_000017.11:74301137:G:A p.(Gly319=) NC_000017.11:74301137:G:A p.(Gly319=) NC_000017.11:74301137:G:A Identity +NM_001369.3:c.10858C>A NP_001360.1:p.Arg3620= NC_000005.10:13753246:G:T p.(Arg3620=) NC_000005.10:13753246:G:T p.(Arg3620=) NC_000005.10:13753246:G:T Identity +NM_001035.3:c.1431C>T NP_001026.2:p.Asn477= NC_000001.11:237454528:C:T p.(Asn477=) NC_000001.11:237454528:C:T p.(Asn477=) NC_000001.11:237454528:C:T Identity +NM_000135.4:c.3888G>A NP_000126.2:p.Glu1296= NC_000016.10:89740039:C:T p.(Glu1296=) NC_000016.10:89740039:C:T p.(Glu1296=) NC_000016.10:89740039:C:T Identity +NM_001330358.2:c.654C>T NP_001317287.1:p.Asp218= NC_000001.11:11800266:G:A p.(Asp218=) NC_000001.11:11800266:G:A p.(Asp218=) NC_000001.11:11800266:G:A Identity +NM_001318756.1:c.1023G>A NP_001305685.1:p.Ser341= NC_000016.10:84175964:G:A p.(Ser341=) NC_000016.10:84175964:G:A p.(Ser341=) NC_000016.10:84175964:G:A Identity +NM_001369.3:c.4743C>T NP_001360.1:p.Ile1581= NC_000005.10:13862600:G:A p.(Ile1581=) NC_000005.10:13862600:G:A p.(Ile1581=) NC_000005.10:13862600:G:A Identity +NM_025114.4:c.5178A>G NP_079390.3:p.Leu1726= NC_000012.12:88080229:T:C p.(Leu1726=) NC_000012.12:88080229:T:C p.(Leu1726=) NC_000012.12:88080229:T:C Identity +NM_000258.3:c.96T>G NP_000249.1:p.Pro32= NC_000003.12:46863294:A:C p.(Pro32=) NC_000003.12:46863294:A:C p.(Pro32=) NC_000003.12:46863294:A:C Identity +NM_001369.3:c.6129G>A NP_001360.1:p.Ser2043= NC_000005.10:13830145:C:T p.(Ser2043=) NC_000005.10:13830145:C:T p.(Ser2043=) NC_000005.10:13830145:C:T Identity +NM_000498.3:c.228G>T NP_000489.3:p.Gly76= NC_000008.11:142917612:C:A p.(Gly76=) NC_000008.11:142917612:C:A p.(Gly76=) NC_000008.11:142917612:C:A Identity +NM_003803.4:c.2325G>A NP_003794.3:p.Ala775= NC_000018.10:3134708:C:T p.(Ala775=) NC_000018.10:3134708:C:T p.(Ala775=) NC_000018.10:3134708:C:T Identity +NM_001164507.2:c.4125G>A NP_001157979.2:p.Glu1375= NC_000002.12:151672542:C:T p.(Glu1375=) NC_000002.12:151672542:C:T p.(Glu1375=) NC_000002.12:151672542:C:T Identity +NM_000057.4:c.1038G>A NP_000048.1:p.Glu346= NC_000015.10:90754888:G:A p.(Glu346=) NC_000015.10:90754888:G:A p.(Glu346=) NC_000015.10:90754888:G:A Identity +NM_000256.3:c.1947G>A NP_000247.2:p.Leu649= NC_000011.10:47339770:C:T p.(Leu649=) NC_000011.10:47339770:C:T p.(Leu649=) NC_000011.10:47339770:C:T Identity +NM_001369.3:c.9945C>T NP_001360.1:p.Pro3315= NC_000005.10:13766131:G:A p.(Pro3315=) NC_000005.10:13766131:G:A p.(Pro3315=) NC_000005.10:13766131:G:A Identity +NM_001172810.3:c.621C>T NP_001166281.1:p.Asn207= NC_000017.11:74291029:C:T p.(Asn207=) NC_000017.11:74291029:C:T p.(Asn207=) NC_000017.11:74291029:C:T Identity +NM_000256.3:c.582C>A NP_000247.2:p.Gly194= NC_000011.10:47349845:G:T p.(Gly194=) NC_000011.10:47349845:G:T p.(Gly194=) NC_000011.10:47349845:G:T Identity +NM_001035.3:c.8583G>A NP_001026.2:p.Glu2861= NC_000001.11:237667950:G:A p.(Glu2861=) NC_000001.11:237667950:G:A p.(Glu2861=) NC_000001.11:237667950:G:A Identity +NM_145038.5:c.1452G>A NP_659475.2:p.Pro484= NC_000002.12:26448745:G:A p.(Pro484=) NC_000002.12:26448745:G:A p.(Pro484=) NC_000002.12:26448745:G:A Identity +NM_001369.3:c.2047C>A NP_001360.1:p.Arg683= NC_000005.10:13901256:G:T p.(Arg683=) NC_000005.10:13901256:G:T p.(Arg683=) NC_000005.10:13901256:G:T Identity +NM_020433.5:c.1041C>A NP_065166.2:p.Val347= NC_000020.11:44159745:G:T p.(Val347=) NC_000020.11:44159745:G:T p.(Val347=) NC_000020.11:44159745:G:T Identity +NM_003803.4:c.3195C>T NP_003794.3:p.Ser1065= NC_000018.10:3116438:G:A p.(Ser1065=) NC_000018.10:3116438:G:A p.(Ser1065=) NC_000018.10:3116438:G:A Identity +NM_001369.3:c.10096T>C NP_001360.1:p.Leu3366= NC_000005.10:13765980:A:G p.(Leu3366=) NC_000005.10:13765980:A:G p.(Leu3366=) NC_000005.10:13765980:A:G Identity +NM_001277115.2:c.1719C>A NP_001264044.1:p.Thr573= NC_000007.14:21588071:C:A p.(Thr573=) NC_000007.14:21588071:C:A p.(Thr573=) NC_000007.14:21588071:C:A Identity +NM_001369.3:c.6682A>C NP_001360.1:p.Arg2228= NC_000005.10:13823267:T:G p.(Arg2228=) NC_000005.10:13823267:T:G p.(Arg2228=) NC_000005.10:13823267:T:G Identity +NM_001035.3:c.2517G>A NP_001026.2:p.Glu839= NC_000001.11:237503408:G:A p.(Glu839=) NC_000001.11:237503408:G:A p.(Glu839=) NC_000001.11:237503408:G:A Identity +NM_001943.5:c.891T>C NP_001934.2:p.Asp297= NC_000018.10:31524764:T:C p.(Asp297=) NC_000018.10:31524764:T:C p.(Asp297=) NC_000018.10:31524764:T:C Identity +NM_001008844.3:c.102C>T NP_001008844.1:p.Gly34= NC_000006.12:7542016:C:T p.(Gly34=) NC_000006.12:7542016:C:T p.(Gly34=) NC_000006.12:7542016:C:T Identity +NM_000257.4:c.1731C>T NP_000248.2:p.Phe577= NC_000014.9:23427741:G:A p.(Phe577=) NC_000014.9:23427741:G:A p.(Phe577=) NC_000014.9:23427741:G:A Identity +NM_001008844.3:c.96C>T NP_001008844.1:p.Ser32= NC_000006.12:7542010:C:T p.(Ser32=) NC_000006.12:7542010:C:T p.(Ser32=) NC_000006.12:7542010:C:T Identity +NM_017802.4:c.1866C>T NP_060272.3:p.Arg622= NC_000007.14:770552:C:T p.(Arg622=) NC_000007.14:770552:C:T p.(Arg622=) NC_000007.14:770552:C:T Identity +NM_001034853.2:c.2820_2840dup NP_001030025.1:p.Asp943_Glu949dup NC_000023.11:38286158:TCCCCTTCTCCATCCTCCCCTTCCCCTTCTCC:TCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCC p.(Asp943_Glu949dup) NC_000023.11:38286158:TCCCCTTCTCCATCCTCCCCTTCCCCTTCTCC:TCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCC p.(Asp943_Glu949dup) ERR:SPDI Identity +NM_001330209.2:c.2103A>G NP_001317138.1:p.Lys701= NC_000023.11:13760682:A:G p.(Lys701=) NC_000023.11:13760682:A:G p.(Lys701=) NC_000023.11:13760682:A:G Identity +NM_004949.5:c.948T>C NP_004940.1:p.Ile316= NC_000018.10:31083054:A:G p.(Ile316=) NC_000018.10:31083054:A:G p.(Ile316=) NC_000018.10:31083054:A:G Identity +NM_001008844.3:c.5763A>G NP_001008844.1:p.Val1921= NC_000006.12:7584821:A:G p.(Val1921=) NC_000006.12:7584821:A:G p.(Val1921=) NC_000006.12:7584821:A:G Identity +NM_006946.4:c.5459AGC[5] NP_008877.2:p.Gln1823dup NC_000011.10:66691378:GCTGCTGCTGCT:GCTGCTGCTGCTGCT p.(Gln1823dup) NC_000011.10:66691389:T:GCTGCTGCTGCTGCT ERR:Parse ERR:Parse Identity +NM_001243342.2:c.2328C>T NP_001230271.1:p.Thr776= NC_000017.11:80086094:C:T p.(Thr776=) NC_000017.11:80086094:C:T p.(Thr776=) NC_000017.11:80086094:C:T Identity +NM_003803.4:c.64_65insATCTCAGCTACCGCAACAAGGACC NP_003794.3:p.Val22delinsAspLeuSerTyrArgAsnLysAspLeu NC_000018.10:3215159::GGTCCTTGTTGCGGTAGCTGAGAT p.(Val22delinsAspLeuSerTyrArgAsnLysAspLeu) NC_000018.10:3215158:A:GGTCCTTGTTGCGGTAGCTGAGAT p.(Val22delinsAspLeuSerTyrArgAsnLysAspLeu) NC_000018.10:3215159:AC:GGTCCTTGTTGCGGTAGCTGAGAT Identity +NM_001369.3:c.6696A>G NP_001360.1:p.Glu2232= NC_000005.10:13820490:T:C p.(Glu2232=) NC_000005.10:13820490:T:C p.(Glu2232=) NC_000005.10:13820490:T:C Identity +NM_001369.3:c.9222C>T NP_001360.1:p.Phe3074= NC_000005.10:13776589:G:A p.(Phe3074=) NC_000005.10:13776589:G:A p.(Phe3074=) NC_000005.10:13776589:G:A Identity +NM_001281428.2:c.180G>T NP_001268357.1:p.Ala60= NC_000009.12:34485239:G:T p.(Ala60=) NC_000009.12:34485239:G:T p.(Ala60=) NC_000009.12:34485239:G:T Identity +NM_000257.4:c.1221C>A NP_000248.2:p.Gly407= NC_000014.9:23429264:G:T p.(Gly407=) NC_000014.9:23429264:G:T p.(Gly407=) NC_000014.9:23429264:G:T Identity +NM_001206927.2:c.11862C>T NP_001193856.1:p.Ile3954= NC_000006.12:38938842:C:T p.(Ile3954=) NC_000006.12:38938842:C:T p.(Ile3954=) NC_000006.12:38938842:C:T Identity +NM_001281428.2:c.744C>T NP_001268357.1:p.Thr248= NC_000009.12:34493243:C:T p.(Thr248=) NC_000009.12:34493243:C:T p.(Thr248=) NC_000009.12:34493243:C:T Identity +NM_000170.3:c.1128G>A NP_000161.2:p.Lys376= NC_000009.12:6602135:C:T p.(Lys376=) NC_000009.12:6602135:C:T p.(Lys376=) NC_000009.12:6602135:C:T Identity +NM_000256.3:c.1068G>A NP_000247.2:p.Arg356= NC_000011.10:47346228:C:T p.(Arg356=) NC_000011.10:47346228:C:T p.(Arg356=) NC_000011.10:47346228:C:T Identity +NM_014249.4:c.639C>T NP_055064.1:p.Ser213= NC_000015.10:71812402:C:T p.(Ser213=) NC_000015.10:71812402:C:T p.(Ser213=) NC_000015.10:71812402:C:T Identity +NM_000257.4:c.3117G>A NP_000248.2:p.Glu1039= NC_000014.9:23422307:C:T p.(Glu1039=) NC_000014.9:23422307:C:T p.(Glu1039=) NC_000014.9:23422307:C:T Identity +NM_001172810.3:c.15C>T NP_001166281.1:p.Tyr5= NC_000017.11:74281831:C:T p.(Tyr5=) NC_000017.11:74281831:C:T p.(Tyr5=) NC_000017.11:74281831:C:T Identity +NM_016599.5:c.792A>G NP_057683.1:p.Leu264= NC_000004.12:119186196:A:G p.(Leu264=) NC_000004.12:119186196:A:G p.(Leu264=) NC_000004.12:119186196:A:G Identity +NM_001172810.3:c.1752G>C NP_001166281.1:p.Gly584= NC_000017.11:74314185:G:C p.(Gly584=) NC_000017.11:74314185:G:C p.(Gly584=) NC_000017.11:74314185:G:C Identity +NM_138694.4:c.2457T>C NP_619639.3:p.Asn819= NC_000006.12:52046138:A:G p.(Asn819=) NC_000006.12:52046138:A:G p.(Asn819=) NC_000006.12:52046138:A:G Identity +NM_145038.5:c.1263G>A NP_659475.2:p.Arg421= NC_000002.12:26444814:G:A p.(Arg421=) NC_000002.12:26444814:G:A p.(Arg421=) NC_000002.12:26444814:G:A Identity +NM_000237.3:c.267G>A NP_000228.1:p.Glu89= NC_000008.11:19951785:G:A p.(Glu89=) NC_000008.11:19951785:G:A p.(Glu89=) NC_000008.11:19951785:G:A Identity +NM_001083908.2:c.2316T>C NP_001077377.1:p.His772= NC_000014.9:49625595:A:G p.(His772=) NC_000014.9:49625595:A:G p.(His772=) NC_000014.9:49625595:A:G Identity +NM_001277115.2:c.876T>C NP_001264044.1:p.Tyr292= NC_000007.14:21559785:T:C p.(Tyr292=) NC_000007.14:21559785:T:C p.(Tyr292=) NC_000007.14:21559785:T:C Identity +NM_001281428.2:c.783A>G NP_001268357.1:p.Lys261= NC_000009.12:34493282:A:G p.(Lys261=) NC_000009.12:34493282:A:G p.(Lys261=) NC_000009.12:34493282:A:G Identity +NM_000366.6:c.822G>A NP_000357.3:p.Leu274= NC_000015.10:63064112:G:A p.(Leu274=) NC_000015.10:63064112:G:A p.(Leu274=) NC_000015.10:63064112:G:A Identity +NM_001369.3:c.2838A>G NP_001360.1:p.Lys946= NC_000005.10:13885133:T:C p.(Lys946=) NC_000005.10:13885133:T:C p.(Lys946=) NC_000005.10:13885133:T:C Identity +NM_001172810.3:c.814C>T NP_001166281.1:p.Leu272= NC_000017.11:74299806:C:T p.(Leu272=) NC_000017.11:74299806:C:T p.(Leu272=) NC_000017.11:74299806:C:T Identity +NM_001369.3:c.12147G>C NP_001360.1:p.Leu4049= NC_000005.10:13721131:C:G p.(Leu4049=) NC_000005.10:13721131:C:G p.(Leu4049=) NC_000005.10:13721131:C:G Identity +NM_001369.3:c.11253T>C NP_001360.1:p.Thr3751= NC_000005.10:13737453:A:G p.(Thr3751=) NC_000005.10:13737453:A:G p.(Thr3751=) NC_000005.10:13737453:A:G Identity +NM_178452.6:c.588C>T NP_848547.4:p.Val196= NC_000016.10:84155595:C:T p.(Val196=) NC_000016.10:84155595:C:T p.(Val196=) NC_000016.10:84155595:C:T Identity +NM_001035.3:c.14388T>C NP_001026.2:p.Ser4796= NC_000001.11:237808989:T:C p.(Ser4796=) NC_000001.11:237808989:T:C p.(Ser4796=) NC_000001.11:237808989:T:C Identity +NM_001369.3:c.13344T>A NP_001360.1:p.Ser4448= NC_000005.10:13701430:A:T p.(Ser4448=) NC_000005.10:13701430:A:T p.(Ser4448=) NC_000005.10:13701430:A:T Identity +NM_001369.3:c.10383G>A NP_001360.1:p.Val3461= NC_000005.10:13758881:C:T p.(Val3461=) NC_000005.10:13758881:C:T p.(Val3461=) NC_000005.10:13758881:C:T Identity +NM_001277115.2:c.5394G>A NP_001264044.1:p.Lys1798= NC_000007.14:21681610:G:A p.(Lys1798=) NC_000007.14:21681610:G:A p.(Lys1798=) NC_000007.14:21681610:G:A Identity +NM_000028.3:c.2193A>G NP_000019.2:p.Ala731= NC_000001.11:99881575:A:G p.(Ala731=) NC_000001.11:99881575:A:G p.(Ala731=) NC_000001.11:99881575:A:G Identity +NM_001318756.1:c.693C>A NP_001305685.1:p.Thr231= NC_000016.10:84170228:C:A p.(Thr231=) NC_000016.10:84170228:C:A p.(Thr231=) NC_000016.10:84170228:C:A Identity +NM_001145472.3:c.24C>T NP_001138944.1:p.Tyr8= NC_000018.10:46547051:G:A p.(Tyr8=) NC_000018.10:46547051:G:A p.(Tyr8=) NC_000018.10:46547051:G:A Identity +NM_000256.3:c.1593G>C NP_000247.2:p.Gly531= NC_000011.10:47342608:C:G p.(Gly531=) NC_000011.10:47342608:C:G p.(Gly531=) NC_000011.10:47342608:C:G Identity +NM_001369.3:c.7707T>C NP_001360.1:p.Asn2569= NC_000005.10:13809088:A:G p.(Asn2569=) NC_000005.10:13809088:A:G p.(Asn2569=) NC_000005.10:13809088:A:G Identity +NM_001330358.2:c.411C>T NP_001317287.1:p.His137= NC_000001.11:11801347:G:A p.(His137=) NC_000001.11:11801347:G:A p.(His137=) NC_000001.11:11801347:G:A Identity +NM_001008844.3:c.3813A>G NP_001008844.1:p.Gln1271= NC_000006.12:7582871:A:G p.(Gln1271=) NC_000006.12:7582871:A:G p.(Gln1271=) NC_000006.12:7582871:A:G Identity +NM_000271.5:c.3240T>G NP_000262.2:p.Pro1080= NC_000018.10:23536677:A:C p.(Pro1080=) NC_000018.10:23536677:A:C p.(Pro1080=) NC_000018.10:23536677:A:C Identity +NM_000109.4:c.4110C>T NP_000100.3:p.Ser1370= NC_000023.11:32411850:G:A p.(Ser1370=) NC_000023.11:32411850:G:A p.(Ser1370=) NC_000023.11:32411850:G:A Identity +NM_000256.3:c.1296A>C NP_000247.2:p.Ala432= NC_000011.10:47343075:T:G p.(Ala432=) NC_000011.10:47343075:T:G p.(Ala432=) NC_000011.10:47343075:T:G Identity +NM_000364.4:c.237G>T NP_000355.2:p.Ser79= NC_000001.11:201365666:C:A p.(Ser79=) NC_000001.11:201365666:C:A p.(Ser79=) NC_000001.11:201365666:C:A Identity +NM_001277115.2:c.10419G>T NP_001264044.1:p.Leu3473= NC_000007.14:21816552:G:T p.(Leu3473=) NC_000007.14:21816552:G:T p.(Leu3473=) NC_000007.14:21816552:G:T Identity +NM_001172810.3:c.1758A>G NP_001166281.1:p.Glu586= NC_000017.11:74314191:A:G p.(Glu586=) NC_000017.11:74314191:A:G p.(Glu586=) NC_000017.11:74314191:A:G Identity +NM_000432.4:c.138G>A NP_000423.2:p.Lys46= NC_000012.12:110915745:C:T p.(Lys46=) NC_000012.12:110915745:C:T p.(Lys46=) NC_000012.12:110915745:C:T Identity +NM_001369.3:c.9840T>C NP_001360.1:p.Ala3280= NC_000005.10:13769016:A:G p.(Ala3280=) NC_000005.10:13769016:A:G p.(Ala3280=) NC_000005.10:13769016:A:G Identity +NM_001172810.3:c.378C>T NP_001166281.1:p.Ala126= NC_000017.11:74287008:C:T p.(Ala126=) NC_000017.11:74287008:C:T p.(Ala126=) NC_000017.11:74287008:C:T Identity +NM_001369.3:c.5649A>G NP_001360.1:p.Arg1883= NC_000005.10:13840965:T:C p.(Arg1883=) NC_000005.10:13840965:T:C p.(Arg1883=) NC_000005.10:13840965:T:C Identity +NM_001277115.2:c.8349C>T NP_001264044.1:p.Pro2783= NC_000007.14:21744901:C:T p.(Pro2783=) NC_000007.14:21744901:C:T p.(Pro2783=) NC_000007.14:21744901:C:T Identity +NM_001369.3:c.7161T>C NP_001360.1:p.Pro2387= NC_000005.10:13814673:A:G p.(Pro2387=) NC_000005.10:13814673:A:G p.(Pro2387=) NC_000005.10:13814673:A:G Identity +NM_001369.3:c.11433A>G NP_001360.1:p.Ser3811= NC_000005.10:13737273:T:C p.(Ser3811=) NC_000005.10:13737273:T:C p.(Ser3811=) NC_000005.10:13737273:T:C Identity +NM_001172810.3:c.1263C>A NP_001166281.1:p.Thr421= NC_000017.11:74309303:C:A p.(Thr421=) NC_000017.11:74309303:C:A p.(Thr421=) NC_000017.11:74309303:C:A Identity +NM_001369.3:c.687T>C NP_001360.1:p.Leu229= NC_000005.10:13920590:A:G p.(Leu229=) NC_000005.10:13920590:A:G p.(Leu229=) NC_000005.10:13920590:A:G Identity +NM_000256.3:c.2535C>T NP_000247.2:p.Arg845= NC_000011.10:47337457:G:A p.(Arg845=) NC_000011.10:47337457:G:A p.(Arg845=) NC_000011.10:47337457:G:A Identity +NM_007123.6:c.2349C>T NP_009054.6:p.Asn783= NC_000001.11:216247044:G:A p.(Asn783=) NC_000001.11:216247044:G:A p.(Asn783=) NC_000001.11:216247044:G:A Identity +NM_001692.4:c.351G>A NP_001683.2:p.Val117= NC_000002.12:70958409:G:A p.(Val117=) NC_000002.12:70958409:G:A p.(Val117=) NC_000002.12:70958409:G:A Identity +NM_000256.3:c.49C>A NP_000247.2:p.Arg17= NC_000011.10:47351481:G:T p.(Arg17=) NC_000011.10:47351481:G:T p.(Arg17=) NC_000011.10:47351481:G:T Identity +NM_138694.4:c.3513C>T NP_619639.3:p.Leu1171= NC_000006.12:52028202:G:A p.(Leu1171=) NC_000006.12:52028202:G:A p.(Leu1171=) NC_000006.12:52028202:G:A Identity +NM_001369.3:c.4521G>A NP_001360.1:p.Leu1507= NC_000005.10:13864471:C:T p.(Leu1507=) NC_000005.10:13864471:C:T p.(Leu1507=) NC_000005.10:13864471:C:T Identity +NM_001283009.2:c.1815C>T NP_001269938.1:p.Tyr605= NC_000020.11:63689068:C:T p.(Tyr605=) NC_000020.11:63689068:C:T p.(Tyr605=) NC_000020.11:63689068:C:T Identity +NM_012203.2:c.678C>T NP_036335.1:p.Cys226= NC_000009.12:37430589:C:T p.(Cys226=) NC_000009.12:37430589:C:T p.(Cys226=) NC_000009.12:37430589:C:T Identity +NM_001369.3:c.10134G>A NP_001360.1:p.Val3378= NC_000005.10:13762868:C:T p.(Val3378=) NC_000005.10:13762868:C:T p.(Val3378=) NC_000005.10:13762868:C:T Identity +NM_001369.3:c.1203A>C NP_001360.1:p.Thr401= NC_000005.10:13914636:T:G p.(Thr401=) NC_000005.10:13914636:T:G p.(Thr401=) NC_000005.10:13914636:T:G Identity +NM_001369.3:c.9012G>A NP_001360.1:p.Gln3004= NC_000005.10:13777294:C:T p.(Gln3004=) NC_000005.10:13777294:C:T p.(Gln3004=) NC_000005.10:13777294:C:T Identity +NM_001369.3:c.7545G>T NP_001360.1:p.Thr2515= NC_000005.10:13810122:C:A p.(Thr2515=) NC_000005.10:13810122:C:A p.(Thr2515=) NC_000005.10:13810122:C:A Identity +NM_000098.3:c.1200G>A NP_000089.1:p.Gln400= NC_000001.11:53210873:G:A p.(Gln400=) NC_000001.11:53210873:G:A p.(Gln400=) NC_000001.11:53210873:G:A Identity +NM_000256.3:c.3468G>A NP_000247.2:p.Glu1156= NC_000011.10:47332835:C:T p.(Glu1156=) NC_000011.10:47332835:C:T p.(Glu1156=) NC_000011.10:47332835:C:T Identity +NM_000256.3:c.3558C>G NP_000247.2:p.Pro1186= NC_000011.10:47332634:G:C p.(Pro1186=) NC_000011.10:47332634:G:C p.(Pro1186=) NC_000011.10:47332634:G:C Identity +NM_003803.4:c.3903C>T NP_003794.3:p.Ile1301= NC_000018.10:3090763:G:A p.(Ile1301=) NC_000018.10:3090763:G:A p.(Ile1301=) NC_000018.10:3090763:G:A Identity +NM_001369.3:c.11802A>G NP_001360.1:p.Pro3934= NC_000005.10:13729519:T:C p.(Pro3934=) NC_000005.10:13729519:T:C p.(Pro3934=) NC_000005.10:13729519:T:C Identity +NM_001277115.2:c.12135T>C NP_001264044.1:p.Thr4045= NC_000007.14:21873440:T:C p.(Thr4045=) NC_000007.14:21873440:T:C p.(Thr4045=) NC_000007.14:21873440:T:C Identity +NM_001369.3:c.12270C>T NP_001360.1:p.Thr4090= NC_000005.10:13721008:G:A p.(Thr4090=) NC_000005.10:13721008:G:A p.(Thr4090=) NC_000005.10:13721008:G:A Identity +NM_001010892.3:c.1497T>G NP_001010892.1:p.Pro499= NC_000006.12:116628203:T:G p.(Pro499=) NC_000006.12:116628203:T:G p.(Pro499=) NC_000006.12:116628203:T:G Identity +NM_017802.4:c.1549C>T NP_060272.3:p.Leu517= NC_000007.14:761830:C:T p.(Leu517=) NC_000007.14:761830:C:T p.(Leu517=) NC_000007.14:761830:C:T Identity +NM_001277115.2:c.1692C>G NP_001264044.1:p.Gly564= NC_000007.14:21582002:C:G p.(Gly564=) NC_000007.14:21582002:C:G p.(Gly564=) NC_000007.14:21582002:C:G Identity +NM_000363.5:c.201G>A NP_000354.4:p.Glu67= NC_000019.10:55156281:C:T p.(Glu67=) NC_000019.10:55156281:C:T p.(Glu67=) NC_000019.10:55156281:C:T Identity +NM_001083908.2:c.2220A>G NP_001077377.1:p.Ser740= NC_000014.9:49625691:T:C p.(Ser740=) NC_000014.9:49625691:T:C p.(Ser740=) NC_000014.9:49625691:T:C Identity +NM_001277115.2:c.11_22dup NP_001264044.1:p.Ala7_Arg8insGlnValAlaAla NC_000007.14:21543246:TGGCAGCCCAGGTGGCAGCCC:TGGCAGCCCAGGTGGCAGCCCAGGTGGCAGCCC p.(Gln4_Ala7dup) NC_000007.14:21543246:TGGCAGCCCAGGTGGCAGCCC:TGGCAGCCCAGGTGGCAGCCCAGGTGGCAGCCC p.(Gln4_Ala7dup) ERR:SPDI Analogous +NM_001330209.2:c.2904A>C NP_001317138.1:p.Leu968= NC_000023.11:13769092:A:C p.(Leu968=) NC_000023.11:13769092:A:C p.(Leu968=) NC_000023.11:13769092:A:C Identity +NM_001290020.2:c.534G>A NP_001276949.1:p.Leu178= NC_000010.11:27985059:C:T p.(Leu178=) NC_000010.11:27985059:C:T p.(Leu178=) NC_000010.11:27985059:C:T Identity +NM_001034853.2:c.2067A>T NP_001030025.1:p.Pro689= NC_000023.11:38286931:T:A p.(Pro689=) NC_000023.11:38286931:T:A p.(Pro689=) NC_000023.11:38286931:T:A Identity +NM_001369.3:c.5361T>C NP_001360.1:p.Val1787= NC_000005.10:13841814:A:G p.(Val1787=) NC_000005.10:13841814:A:G p.(Val1787=) NC_000005.10:13841814:A:G Identity +NM_001277115.2:c.10357C>T NP_001264044.1:p.Leu3453= NC_000007.14:21816490:C:T p.(Leu3453=) NC_000007.14:21816490:C:T p.(Leu3453=) NC_000007.14:21816490:C:T Identity +NM_001034853.2:c.2811_2816del NP_001030025.1:p.937GE[2] NC_000023.11:38286182:CCTTCTCCTTC:CCTTC p.(Gly941_Glu942del) NC_000023.11:38286182:CCTTCTCCTTC:CCTTC p.(Gly941_Glu942del) NC_000023.11:38286182:CCTTCT: Analogous +NM_000257.4:c.4404G>A NP_000248.2:p.Glu1468= NC_000014.9:23417267:C:T p.(Glu1468=) NC_000014.9:23417267:C:T p.(Glu1468=) NC_000014.9:23417267:C:T Identity +NM_001034853.2:c.2220A>G NP_001030025.1:p.Glu740= NC_000023.11:38286778:T:C p.(Glu740=) NC_000023.11:38286778:T:C p.(Glu740=) NC_000023.11:38286778:T:C Identity +NM_001142800.2:c.9288A>G NP_001136272.1:p.Val3096= NC_000006.12:63720742:T:C p.(Val3096=) NC_000006.12:63720742:T:C p.(Val3096=) NC_000006.12:63720742:T:C Identity +NM_000274.4:c.228A>G NP_000265.1:p.Arg76= NC_000010.11:124408936:T:C p.(Arg76=) NC_000010.11:124408936:T:C p.(Arg76=) NC_000010.11:124408936:T:C Identity +NM_001010892.3:c.1548A>T NP_001010892.1:p.Ala516= NC_000006.12:116628254:A:T p.(Ala516=) NC_000006.12:116628254:A:T p.(Ala516=) NC_000006.12:116628254:A:T Identity +NM_001113755.3:c.717C>T NP_001107227.1:p.Ala239= NC_000022.11:50527212:G:A p.(Ala239=) NC_000022.11:50527212:G:A p.(Ala239=) NC_000022.11:50527212:G:A Identity +NM_000784.4:c.1170T>G NP_000775.1:p.Leu390= NC_000002.12:218814172:T:G p.(Leu390=) NC_000002.12:218814172:T:G p.(Leu390=) NC_000002.12:218814172:T:G Identity +NM_001369.3:c.2808G>A NP_001360.1:p.Leu936= NC_000005.10:13885163:C:T p.(Leu936=) NC_000005.10:13885163:C:T p.(Leu936=) NC_000005.10:13885163:C:T Identity +NM_000256.3:c.2046C>T NP_000247.2:p.Ile682= NC_000011.10:47339671:G:A p.(Ile682=) NC_000011.10:47339671:G:A p.(Ile682=) NC_000011.10:47339671:G:A Identity +NM_001206927.2:c.13932G>A NP_001193856.1:p.Thr4644= NC_000006.12:39030199:G:A p.(Thr4644=) NC_000006.12:39030199:G:A p.(Thr4644=) NC_000006.12:39030199:G:A Identity +NM_001363520.3:c.1182A>C NP_001350449.1:p.Gly394= NC_000004.12:127920803:T:G p.(Gly394=) NC_000004.12:127920803:T:G p.(Gly394=) NC_000004.12:127920803:T:G Identity +NM_001369.3:c.9312C>T NP_001360.1:p.Ala3104= NC_000005.10:13776499:G:A p.(Ala3104=) NC_000005.10:13776499:G:A p.(Ala3104=) NC_000005.10:13776499:G:A Identity +NM_001164507.2:c.17670A>G NP_001157979.2:p.Ser5890= NC_000002.12:151568381:T:C p.(Ser5890=) NC_000002.12:151568381:T:C p.(Ser5890=) NC_000002.12:151568381:T:C Identity +NM_001172810.3:c.489G>A NP_001166281.1:p.Arg163= NC_000017.11:74289614:G:A p.(Arg163=) NC_000017.11:74289614:G:A p.(Arg163=) NC_000017.11:74289614:G:A Identity +NM_138694.4:c.10149C>T NP_619639.3:p.Phe3383= NC_000006.12:51744391:G:A p.(Phe3383=) NC_000006.12:51744391:G:A p.(Phe3383=) NC_000006.12:51744391:G:A Identity +NM_020433.5:c.1516C>T NP_065166.2:p.Leu506= NC_000020.11:44116158:G:A p.(Leu506=) NC_000020.11:44116158:G:A p.(Leu506=) NC_000020.11:44116158:G:A Identity +NM_001369.3:c.11550A>G NP_001360.1:p.Leu3850= NC_000005.10:13735837:T:C p.(Leu3850=) NC_000005.10:13735837:T:C p.(Leu3850=) NC_000005.10:13735837:T:C Identity +NM_001369.3:c.11169A>G NP_001360.1:p.Leu3723= NC_000005.10:13751119:T:C p.(Leu3723=) NC_000005.10:13751119:T:C p.(Leu3723=) NC_000005.10:13751119:T:C Identity +NM_001369.3:c.11895T>C NP_001360.1:p.Asn3965= NC_000005.10:13727644:A:G p.(Asn3965=) NC_000005.10:13727644:A:G p.(Asn3965=) NC_000005.10:13727644:A:G Identity +NM_001172810.3:c.297A>G NP_001166281.1:p.Lys99= NC_000017.11:74285152:A:G p.(Lys99=) NC_000017.11:74285152:A:G p.(Lys99=) NC_000017.11:74285152:A:G Identity +NM_001369.3:c.5076G>A NP_001360.1:p.Leu1692= NC_000005.10:13850689:C:T p.(Leu1692=) NC_000005.10:13850689:C:T p.(Leu1692=) NC_000005.10:13850689:C:T Identity +NM_001369.3:c.4224A>G NP_001360.1:p.Gln1408= NC_000005.10:13865798:T:C p.(Gln1408=) NC_000005.10:13865798:T:C p.(Gln1408=) NC_000005.10:13865798:T:C Identity +NM_138694.4:c.7737G>C NP_619639.3:p.Ala2579= NC_000006.12:51856066:C:G p.(Ala2579=) NC_000006.12:51856066:C:G p.(Ala2579=) NC_000006.12:51856066:C:G Identity +NM_001206927.2:c.6528A>G NP_001193856.1:p.Leu2176= NC_000006.12:38866619:A:G p.(Leu2176=) NC_000006.12:38866619:A:G p.(Leu2176=) NC_000006.12:38866619:A:G Identity +NM_017802.4:c.1791C>T NP_060272.3:p.Ala597= NC_000007.14:770477:C:T p.(Ala597=) NC_000007.14:770477:C:T p.(Ala597=) NC_000007.14:770477:C:T Identity +NM_001281428.2:c.723A>G NP_001268357.1:p.Glu241= NC_000009.12:34493222:A:G p.(Glu241=) NC_000009.12:34493222:A:G p.(Glu241=) NC_000009.12:34493222:A:G Identity +NM_001369.3:c.9546T>C NP_001360.1:p.Ile3182= NC_000005.10:13770807:A:G p.(Ile3182=) NC_000005.10:13770807:A:G p.(Ile3182=) NC_000005.10:13770807:A:G Identity +NM_001190787.3:c.150A>G NP_001177716.1:p.Gly50= NC_000005.10:55226901:T:C p.(Gly50=) NC_000005.10:55226901:T:C p.(Gly50=) NC_000005.10:55226901:T:C Identity +NM_002076.4:c.1110C>G NP_002067.1:p.Ala370= NC_000012.12:64729045:G:C p.(Ala370=) NC_000012.12:64729045:G:C p.(Ala370=) NC_000012.12:64729045:G:C Identity +NM_000256.3:c.1383G>A NP_000247.2:p.Glu461= NC_000011.10:47342903:C:T p.(Glu461=) NC_000011.10:47342903:C:T p.(Glu461=) NC_000011.10:47342903:C:T Identity +NM_001206927.2:c.12147G>A NP_001193856.1:p.Lys4049= NC_000006.12:38949468:G:A p.(Lys4049=) NC_000006.12:38949468:G:A p.(Lys4049=) NC_000006.12:38949468:G:A Identity +NM_000383.4:c.186C>G NP_000374.1:p.Leu62= NC_000021.9:44286609:C:G p.(Leu62=) NC_000021.9:44286609:C:G p.(Leu62=) NC_000021.9:44286609:C:G Identity +NM_001035.3:c.48T>C NP_001026.2:p.Thr16= NC_000001.11:237042568:T:C p.(Thr16=) NC_000001.11:237042568:T:C p.(Thr16=) NC_000001.11:237042568:T:C Identity +NM_001010892.3:c.1395A>C NP_001010892.1:p.Arg465= NC_000006.12:116628101:A:C p.(Arg465=) NC_000006.12:116628101:A:C p.(Arg465=) NC_000006.12:116628101:A:C Identity +NM_001277115.2:c.7533T>C NP_001264044.1:p.Asn2511= NC_000007.14:21735731:T:C p.(Asn2511=) NC_000007.14:21735731:T:C p.(Asn2511=) NC_000007.14:21735731:T:C Identity +NM_001321961.2:c.951A>G NP_001308890.1:p.Gln317= NC_000008.11:132611326:T:C p.(Gln317=) NC_000008.11:132611326:T:C p.(Gln317=) NC_000008.11:132611326:T:C Identity +NM_001369.3:c.609G>T NP_001360.1:p.Leu203= NC_000005.10:13922157:C:A p.(Leu203=) NC_000005.10:13922157:C:A p.(Leu203=) NC_000005.10:13922157:C:A Identity +NM_001369.3:c.11931C>T NP_001360.1:p.Asn3977= NC_000005.10:13727608:G:A p.(Asn3977=) NC_000005.10:13727608:G:A p.(Asn3977=) NC_000005.10:13727608:G:A Identity +NM_000112.4:c.2124C>T NP_000103.2:p.Leu708= NC_000005.10:149981716:C:T p.(Leu708=) NC_000005.10:149981716:C:T p.(Leu708=) NC_000005.10:149981716:C:T Identity +NM_001190787.3:c.453A>C NP_001177716.1:p.Pro151= NC_000005.10:55222328:T:G p.(Pro151=) NC_000005.10:55222328:T:G p.(Pro151=) NC_000005.10:55222328:T:G Identity +NM_001369.3:c.147C>T NP_001360.1:p.Asp49= NC_000005.10:13931154:G:A p.(Asp49=) NC_000005.10:13931154:G:A p.(Asp49=) NC_000005.10:13931154:G:A Identity +NM_001369.3:c.6756G>A NP_001360.1:p.Gln2252= NC_000005.10:13820430:C:T p.(Gln2252=) NC_000005.10:13820430:C:T p.(Gln2252=) NC_000005.10:13820430:C:T Identity +NM_003742.4:c.3279G>T NP_003733.2:p.Ser1093= NC_000002.12:168930796:C:A p.(Ser1093=) NC_000002.12:168930796:C:A p.(Ser1093=) NC_000002.12:168930796:C:A Identity +NM_001281428.2:c.606C>G NP_001268357.1:p.Ala202= NC_000009.12:34490460:C:G p.(Ala202=) NC_000009.12:34490460:C:G p.(Ala202=) NC_000009.12:34490460:C:G Identity +NM_001369.3:c.1899C>T NP_001360.1:p.Leu633= NC_000005.10:13901404:G:A p.(Leu633=) NC_000005.10:13901404:G:A p.(Leu633=) NC_000005.10:13901404:G:A Identity +NM_020433.5:c.1386C>T NP_065166.2:p.Leu462= NC_000020.11:44116288:G:A p.(Leu462=) NC_000020.11:44116288:G:A p.(Leu462=) NC_000020.11:44116288:G:A Identity +NM_000390.4:c.1152C>G NP_000381.1:p.Pro384= NC_000023.11:85956166:G:C p.(Pro384=) NC_000023.11:85956166:G:C p.(Pro384=) NC_000023.11:85956166:G:C Identity +NM_015896.4:c.633C>T NP_056980.2:p.Ser211= NC_000003.12:50342984:G:A p.(Ser211=) NC_000003.12:50342984:G:A p.(Ser211=) NC_000003.12:50342984:G:A Identity +NM_000257.4:c.2613G>A NP_000248.2:p.Lys871= NC_000014.9:23424834:C:T p.(Lys871=) NC_000014.9:23424834:C:T p.(Lys871=) NC_000014.9:23424834:C:T Identity +NM_001369.3:c.795A>G NP_001360.1:p.Glu265= NC_000005.10:13920482:T:C p.(Glu265=) NC_000005.10:13920482:T:C p.(Glu265=) NC_000005.10:13920482:T:C Identity +NM_001034853.2:c.2682_2696del NP_001030025.1:p.Glu897_Glu901del NC_000023.11:38286302:TCCTCCTCTTCTCCCTCC:TCC p.(Glu897_Glu901del) NC_000023.11:38286302:TCCTCCTCTTCTCCCTCC:TCC p.(Glu897_Glu901del) NC_000023.11:38286302:TCCTCCTCTTCTCCC: Identity +NM_001018037.2:c.8574G>A NP_001018047.1:p.Glu2858= NC_000009.12:77370279:G:A p.(Glu2858=) NC_000009.12:77370279:G:A p.(Glu2858=) NC_000009.12:77370279:G:A Identity +NM_001306090.2:c.66G>A NP_001293019.1:p.Arg22= NC_000004.12:5711445:G:A p.(Arg22=) NC_000004.12:5711445:G:A p.(Arg22=) NC_000004.12:5711445:G:A Identity +NM_016599.5:c.519T>C NP_057683.1:p.Pro173= NC_000004.12:119164352:T:C p.(Pro173=) NC_000004.12:119164352:T:C p.(Pro173=) NC_000004.12:119164352:T:C Identity +NM_001206927.2:c.8832G>A NP_001193856.1:p.Ser2944= NC_000006.12:38896116:G:A p.(Ser2944=) NC_000006.12:38896116:G:A p.(Ser2944=) NC_000006.12:38896116:G:A Identity +NM_001277115.2:c.1275C>T NP_001264044.1:p.Asn425= NC_000007.14:21570148:C:T p.(Asn425=) NC_000007.14:21570148:C:T p.(Asn425=) NC_000007.14:21570148:C:T Identity +NM_001369.3:c.5778A>G NP_001360.1:p.Glu1926= NC_000005.10:13839459:T:C p.(Glu1926=) NC_000005.10:13839459:T:C p.(Glu1926=) NC_000005.10:13839459:T:C Identity +NM_000257.4:c.2853A>G NP_000248.2:p.Lys951= NC_000014.9:23423975:T:C p.(Lys951=) NC_000014.9:23423975:T:C p.(Lys951=) NC_000014.9:23423975:T:C Identity +NM_001318360.2:c.828T>C NP_001305289.1:p.Asn276= NC_000009.12:108912282:A:G p.(Asn276=) NC_000009.12:108912282:A:G p.(Asn276=) NC_000009.12:108912282:A:G Identity +NM_001374839.1:c.540G>A NP_001361768.1:p.Arg180= NC_000008.11:144414878:C:T p.(Arg180=) NC_000008.11:144414878:C:T p.(Arg180=) NC_000008.11:144414878:C:T Identity +NM_001206927.2:c.285A>G NP_001193856.1:p.Ser95= NC_000006.12:38723093:A:G p.(Ser95=) NC_000006.12:38723093:A:G p.(Ser95=) NC_000006.12:38723093:A:G Identity +NM_001256714.1:c.507G>A NP_001243643.1:p.Pro169= NC_000019.10:55165388:C:T p.(Pro169=) NC_000019.10:55165388:C:T p.(Pro169=) NC_000019.10:55165388:C:T Identity +NM_001277115.2:c.2202T>C NP_001264044.1:p.Leu734= NC_000007.14:21590949:T:C p.(Leu734=) NC_000007.14:21590949:T:C p.(Leu734=) NC_000007.14:21590949:T:C Identity +NM_000182.5:c.258A>G NP_000173.2:p.Arg86= NC_000002.12:26236910:T:C p.(Arg86=) NC_000002.12:26236910:T:C p.(Arg86=) NC_000002.12:26236910:T:C Identity +NM_001206927.2:c.3573G>A NP_001193856.1:p.Pro1191= NC_000006.12:38822886:G:A p.(Pro1191=) NC_000006.12:38822886:G:A p.(Pro1191=) NC_000006.12:38822886:G:A Identity +NM_001369.3:c.6768T>C NP_001360.1:p.His2256= NC_000005.10:13820418:A:G p.(His2256=) NC_000005.10:13820418:A:G p.(His2256=) NC_000005.10:13820418:A:G Identity +NM_000257.4:c.4311T>G NP_000248.2:p.Ala1437= NC_000014.9:23417544:A:C p.(Ala1437=) NC_000014.9:23417544:A:C p.(Ala1437=) NC_000014.9:23417544:A:C Identity +NM_000260.4:c.6087C>T NP_000251.3:p.Cys2029= NC_000011.10:77211186:C:T p.(Cys2029=) NC_000011.10:77211186:C:T p.(Cys2029=) NC_000011.10:77211186:C:T Identity +NM_001034853.2:c.2589_2603del NP_001030025.1:p.Gly865_Glu869del NC_000023.11:38286395:TCCCCTTCTCCTTCTTCCCCTTCT:TCCCCTTCT p.(Gly865_Glu869del) NC_000023.11:38286395:TCCCCTTCTCCTTCTTCCCCTTCT:TCCCCTTCT p.(Gly865_Glu869del) NC_000023.11:38286395:TCCCCTTCTCCTTCT: Identity +NM_001256850.1:c.41319C>A NP_001243779.1:p.Leu13773= NC_000002.12:178620278:G:T p.(Leu13773=) NC_000002.12:178620278:G:T p.(Leu13773=) NC_000002.12:178620278:G:T Identity +NM_001277115.2:c.10239C>T NP_001264044.1:p.Leu3413= NC_000007.14:21807955:C:T p.(Leu3413=) NC_000007.14:21807955:C:T p.(Leu3413=) NC_000007.14:21807955:C:T Identity +NM_001277115.2:c.7059T>C NP_001264044.1:p.Tyr2353= NC_000007.14:21717849:T:C p.(Tyr2353=) NC_000007.14:21717849:T:C p.(Tyr2353=) NC_000007.14:21717849:T:C Identity +NM_003803.4:c.1320G>A NP_003794.3:p.Glu440= NC_000018.10:3168835:C:T p.(Glu440=) NC_000018.10:3168835:C:T p.(Glu440=) NC_000018.10:3168835:C:T Identity +NM_000257.4:c.3534G>A NP_000248.2:p.Leu1178= NC_000014.9:23420036:C:T p.(Leu1178=) NC_000014.9:23420036:C:T p.(Leu1178=) NC_000014.9:23420036:C:T Identity +NM_000256.3:c.3015G>A NP_000247.2:p.Val1005= NC_000011.10:47333731:C:T p.(Val1005=) NC_000011.10:47333731:C:T p.(Val1005=) NC_000011.10:47333731:C:T Identity +NM_001692.4:c.1101_1118dup NP_001683.2:p.Val373_Asp374insGluGlyGlnIleTyrVal NC_000002.12:70963611:AGAGGGACAGATCTACGT:AGAGGGACAGATCTACGTAGAGGGACAGATCTACGT p.(Glu368_Val373dup) NC_000002.12:70963611:AGAGGGACAGATCTACGT:AGAGGGACAGATCTACGTAGAGGGACAGATCTACGT p.(Glu368_Val373dup) ERR:SPDI Analogous +NM_001318785.2:c.301_317dup NP_001305714.1:p.Lys106delinsAsnLeuLysArgSerTer NC_000006.12:87529577:TTTAAGACCTCTTGAGATTT:TTTAAGACCTCTTGAGATTTAAGACCTCTTGAGATTT p.(Lys106AsnfsTer6) NC_000006.12:87529577:TTTAAGACCTCTTGAGATTT:TTTAAGACCTCTTGAGATTTAAGACCTCTTGAGATTT p.(Lys106AsnfsTer6) ERR:SPDI Analogous +NM_001103.4:c.2586C>T NP_001094.1:p.Cys862= NC_000001.11:236762519:C:T p.(Cys862=) NC_000001.11:236762519:C:T p.(Cys862=) NC_000001.11:236762519:C:T Identity +NM_001256850.1:c.74889A>G NP_001243779.1:p.Val24963= NC_000002.12:178566319:T:C p.(Val24963=) NC_000002.12:178566319:T:C p.(Val24963=) NC_000002.12:178566319:T:C Identity +NM_001277115.2:c.11295C>G NP_001264044.1:p.Thr3765= NC_000007.14:21861944:C:G p.(Thr3765=) NC_000007.14:21861944:C:G p.(Thr3765=) NC_000007.14:21861944:C:G Identity +NM_001277115.2:c.13323A>G NP_001264044.1:p.Gln4441= NC_000007.14:21901025:A:G p.(Gln4441=) NC_000007.14:21901025:A:G p.(Gln4441=) NC_000007.14:21901025:A:G Identity +NM_001277115.2:c.10821C>T NP_001264044.1:p.Val3607= NC_000007.14:21842672:C:T p.(Val3607=) NC_000007.14:21842672:C:T p.(Val3607=) NC_000007.14:21842672:C:T Identity +NM_001206927.2:c.8679G>A NP_001193856.1:p.Glu2893= NC_000006.12:38894795:G:A p.(Glu2893=) NC_000006.12:38894795:G:A p.(Glu2893=) NC_000006.12:38894795:G:A Identity +NM_001369.3:c.9312C>G NP_001360.1:p.Ala3104= NC_000005.10:13776499:G:C p.(Ala3104=) NC_000005.10:13776499:G:C p.(Ala3104=) NC_000005.10:13776499:G:C Identity +NM_001369.3:c.2694T>C NP_001360.1:p.Ser898= NC_000005.10:13886012:A:G p.(Ser898=) NC_000005.10:13886012:A:G p.(Ser898=) NC_000005.10:13886012:A:G Identity +NM_001369.3:c.2994T>C NP_001360.1:p.Ser998= NC_000005.10:13883083:A:G p.(Ser998=) NC_000005.10:13883083:A:G p.(Ser998=) NC_000005.10:13883083:A:G Identity +NM_001243342.2:c.1137C>T NP_001230271.1:p.Ala379= NC_000017.11:80050260:C:T p.(Ala379=) NC_000017.11:80050260:C:T p.(Ala379=) NC_000017.11:80050260:C:T Identity +NM_001277115.2:c.6375T>C NP_001264044.1:p.Asp2125= NC_000007.14:21704534:T:C p.(Asp2125=) NC_000007.14:21704534:T:C p.(Asp2125=) NC_000007.14:21704534:T:C Identity +NM_001369.3:c.13407C>A NP_001360.1:p.Thr4469= NC_000005.10:13701367:G:T p.(Thr4469=) NC_000005.10:13701367:G:T p.(Thr4469=) NC_000005.10:13701367:G:T Identity +NM_001190787.3:c.1053C>T NP_001177716.1:p.Arg351= NC_000005.10:55220470:G:A p.(Arg351=) NC_000005.10:55220470:G:A p.(Arg351=) NC_000005.10:55220470:G:A Identity +NM_001277115.2:c.4077A>G NP_001264044.1:p.Glu1359= NC_000007.14:21616273:A:G p.(Glu1359=) NC_000007.14:21616273:A:G p.(Glu1359=) NC_000007.14:21616273:A:G Identity +NM_001277115.2:c.4956C>T NP_001264044.1:p.His1652= NC_000007.14:21655842:C:T p.(His1652=) NC_000007.14:21655842:C:T p.(His1652=) NC_000007.14:21655842:C:T Identity +NM_001277115.2:c.1029G>A NP_001264044.1:p.Arg343= NC_000007.14:21564231:G:A p.(Arg343=) NC_000007.14:21564231:G:A p.(Arg343=) NC_000007.14:21564231:G:A Identity +NM_000048.4:c.1230G>A NP_000039.2:p.Leu410= NC_000007.14:66092642:G:A p.(Leu410=) NC_000007.14:66092642:G:A p.(Leu410=) NC_000007.14:66092642:G:A Identity +NM_000256.3:c.2769G>A NP_000247.2:p.Leu923= NC_000011.10:47335177:C:T p.(Leu923=) NC_000011.10:47335177:C:T p.(Leu923=) NC_000011.10:47335177:C:T Identity +NM_021147.5:c.846C>T NP_066970.3:p.Leu282= NC_000005.10:55231581:G:A p.(Leu282=) NC_000005.10:55231581:G:A p.(Leu282=) NC_000005.10:55231581:G:A Identity +NM_001277115.2:c.10749T>C NP_001264044.1:p.Leu3583= NC_000007.14:21842600:T:C p.(Leu3583=) NC_000007.14:21842600:T:C p.(Leu3583=) NC_000007.14:21842600:T:C Identity +NM_001277115.2:c.4773G>T NP_001264044.1:p.Thr1591= NC_000007.14:21637657:G:T p.(Thr1591=) NC_000007.14:21637657:G:T p.(Thr1591=) NC_000007.14:21637657:G:T Identity +NM_001277115.2:c.12921C>T NP_001264044.1:p.Asp4307= NC_000007.14:21894792:C:T p.(Asp4307=) NC_000007.14:21894792:C:T p.(Asp4307=) NC_000007.14:21894792:C:T Identity +NM_000363.5:c.273G>C NP_000354.4:p.Ala91= NC_000019.10:55156209:C:G p.(Ala91=) NC_000019.10:55156209:C:G p.(Ala91=) NC_000019.10:55156209:C:G Identity +NM_001277115.2:c.6870C>T NP_001264044.1:p.Leu2290= NC_000007.14:21711746:C:T p.(Leu2290=) NC_000007.14:21711746:C:T p.(Leu2290=) NC_000007.14:21711746:C:T Identity +NM_001190787.3:c.219C>T NP_001177716.1:p.Ala73= NC_000005.10:55226665:G:A p.(Ala73=) NC_000005.10:55226665:G:A p.(Ala73=) NC_000005.10:55226665:G:A Identity +NM_001172810.3:c.1209C>T NP_001166281.1:p.Thr403= NC_000017.11:74305439:C:T p.(Thr403=) NC_000017.11:74305439:C:T p.(Thr403=) NC_000017.11:74305439:C:T Identity +NM_001258395.2:c.720G>A NP_001245324.1:p.Gln240= NC_000017.11:44902807:G:A p.(Gln240=) NC_000017.11:44902807:G:A p.(Gln240=) NC_000017.11:44902807:G:A Identity +NM_001277115.2:c.3375G>A NP_001264044.1:p.Lys1125= NC_000007.14:21601128:G:A p.(Lys1125=) NC_000007.14:21601128:G:A p.(Lys1125=) NC_000007.14:21601128:G:A Identity +NM_001369.3:c.7929A>T NP_001360.1:p.Thr2643= NC_000005.10:13794016:T:A p.(Thr2643=) NC_000005.10:13794016:T:A p.(Thr2643=) NC_000005.10:13794016:T:A Identity +NM_021147.5:c.153C>G NP_066970.3:p.Leu51= NC_000005.10:55233370:G:C p.(Leu51=) NC_000005.10:55233370:G:C p.(Leu51=) NC_000005.10:55233370:G:C Identity +NM_001369.3:c.8400C>T NP_001360.1:p.Val2800= NC_000005.10:13792041:G:A p.(Val2800=) NC_000005.10:13792041:G:A p.(Val2800=) NC_000005.10:13792041:G:A Identity +NM_001257374.3:c.1401C>T NP_001244303.1:p.Tyr467= NC_000001.11:156138525:C:T p.(Tyr467=) NC_000001.11:156138525:C:T p.(Tyr467=) NC_000001.11:156138525:C:T Identity +NM_000256.3:c.2544G>T NP_000247.2:p.Ala848= NC_000011.10:47337448:C:A p.(Ala848=) NC_000011.10:47337448:C:A p.(Ala848=) NC_000011.10:47337448:C:A Identity +NM_000256.3:c.1350A>G NP_000247.2:p.Lys450= NC_000011.10:47343021:T:C p.(Lys450=) NC_000011.10:47343021:T:C p.(Lys450=) NC_000011.10:47343021:T:C Identity +NM_000256.3:c.1083G>A NP_000247.2:p.Lys361= NC_000011.10:47346213:C:T p.(Lys361=) NC_000011.10:47346213:C:T p.(Lys361=) NC_000011.10:47346213:C:T Identity +NM_000257.4:c.525G>A NP_000248.2:p.Leu175= NC_000014.9:23432483:C:T p.(Leu175=) NC_000014.9:23432483:C:T p.(Leu175=) NC_000014.9:23432483:C:T Identity +NM_001035.3:c.1926_1927delinsAAAGA NP_001026.2:p.Leu643delinsLysIle NC_000001.11:237493051:GT:AAAGA p.(Leu643delinsLysIle) NC_000001.11:237493050:TGT:TAAAGA p.(Leu643delinsLysIle) NC_000001.11:237493051:GT:AAAGA Identity +NM_001035.3:c.11193C>G NP_001026.2:p.Leu3731= NC_000001.11:237756334:C:G p.(Leu3731=) NC_000001.11:237756334:C:G p.(Leu3731=) NC_000001.11:237756334:C:G Identity +NM_000366.6:c.103A>C NP_000357.3:p.Arg35= NC_000015.10:63042931:A:C p.(Arg35=) NC_000015.10:63042931:A:C p.(Arg35=) NC_000015.10:63042931:A:C Identity +NM_001943.5:c.2847C>T NP_001934.2:p.Thr949= NC_000018.10:31546232:C:T p.(Thr949=) NC_000018.10:31546232:C:T p.(Thr949=) NC_000018.10:31546232:C:T Identity +NM_004415.4:c.5004A>G NP_004406.2:p.Leu1668= NC_000006.12:7581193:A:G p.(Leu1668=) NC_000006.12:7581193:A:G p.(Leu1668=) NC_000006.12:7581193:A:G Identity +NM_001008844.3:c.5068C>T NP_001008844.1:p.Leu1690= NC_000006.12:7584126:C:T p.(Leu1690=) NC_000006.12:7584126:C:T p.(Leu1690=) NC_000006.12:7584126:C:T Identity +NM_001008844.3:c.5280C>A NP_001008844.1:p.Ile1760= NC_000006.12:7584338:C:A p.(Ile1760=) NC_000006.12:7584338:C:A p.(Ile1760=) NC_000006.12:7584338:C:A Identity +NM_020433.5:c.1363C>A NP_065166.2:p.Arg455= NC_000020.11:44116311:G:T p.(Arg455=) NC_000020.11:44116311:G:T p.(Arg455=) NC_000020.11:44116311:G:T Identity +NM_000498.3:c.444G>A NP_000489.3:p.Val148= NC_000008.11:142915196:C:T p.(Val148=) NC_000008.11:142915196:C:T p.(Val148=) NC_000008.11:142915196:C:T Identity +NM_001369.3:c.13083T>C NP_001360.1:p.Asp4361= NC_000005.10:13714446:A:G p.(Asp4361=) NC_000005.10:13714446:A:G p.(Asp4361=) NC_000005.10:13714446:A:G Identity +NM_001018037.2:c.6081A>G NP_001018047.1:p.Lys2027= NC_000009.12:77337356:A:G p.(Lys2027=) NC_000009.12:77337356:A:G p.(Lys2027=) NC_000009.12:77337356:A:G Identity +NM_001172810.3:c.1629C>A NP_001166281.1:p.Ile543= NC_000017.11:74312172:C:A p.(Ile543=) NC_000017.11:74312172:C:A p.(Ile543=) NC_000017.11:74312172:C:A Identity +NM_000102.4:c.393C>T NP_000093.1:p.Thr131= NC_000010.11:102835296:G:A p.(Thr131=) NC_000010.11:102835296:G:A p.(Thr131=) NC_000010.11:102835296:G:A Identity +NM_000363.5:c.261G>C NP_000354.4:p.Gly87= NC_000019.10:55156221:C:G p.(Gly87=) NC_000019.10:55156221:C:G p.(Gly87=) NC_000019.10:55156221:C:G Identity +NM_181426.2:c.1086G>A NP_852091.1:p.Glu362= NC_000003.12:180651481:C:T p.(Glu362=) NC_000003.12:180651481:C:T p.(Glu362=) NC_000003.12:180651481:C:T Identity +NM_001369.3:c.12501T>C NP_001360.1:p.Gly4167= NC_000005.10:13717518:A:G p.(Gly4167=) NC_000005.10:13717518:A:G p.(Gly4167=) NC_000005.10:13717518:A:G Identity +NM_001277115.2:c.11931G>A NP_001264044.1:p.Glu3977= NC_000007.14:21868954:G:A p.(Glu3977=) NC_000007.14:21868954:G:A p.(Glu3977=) NC_000007.14:21868954:G:A Identity +NM_001369.3:c.1581C>T NP_001360.1:p.Asp527= NC_000005.10:13911448:G:A p.(Asp527=) NC_000005.10:13911448:G:A p.(Asp527=) NC_000005.10:13911448:G:A Identity +NM_000257.4:c.3396G>A NP_000248.2:p.Val1132= NC_000014.9:23420174:C:T p.(Val1132=) NC_000014.9:23420174:C:T p.(Val1132=) NC_000014.9:23420174:C:T Identity +NM_001369.3:c.3555T>C NP_001360.1:p.Ala1185= NC_000005.10:13871606:A:G p.(Ala1185=) NC_000005.10:13871606:A:G p.(Ala1185=) NC_000005.10:13871606:A:G Identity +NM_001130455.2:c.474G>A NP_001123927.1:p.Glu158= NC_000002.12:71513728:G:A p.(Glu158=) NC_000002.12:71513728:G:A p.(Glu158=) NC_000002.12:71513728:G:A Identity +NM_001277115.2:c.7797T>A NP_001264044.1:p.Ile2599= NC_000007.14:21738851:T:A p.(Ile2599=) NC_000007.14:21738851:T:A p.(Ile2599=) NC_000007.14:21738851:T:A Identity +NM_001318756.1:c.1047T>A NP_001305685.1:p.Pro349= NC_000016.10:84175988:T:A p.(Pro349=) NC_000016.10:84175988:T:A p.(Pro349=) NC_000016.10:84175988:T:A Identity +NM_001277115.2:c.2982G>A NP_001264044.1:p.Leu994= NC_000007.14:21600100:G:A p.(Leu994=) NC_000007.14:21600100:G:A p.(Leu994=) NC_000007.14:21600100:G:A Identity +NM_001277115.2:c.13122G>T NP_001264044.1:p.Val4374= NC_000007.14:21899407:G:T p.(Val4374=) NC_000007.14:21899407:G:T p.(Val4374=) NC_000007.14:21899407:G:T Identity +NM_001369.3:c.8584T>C NP_001360.1:p.Leu2862= NC_000005.10:13788778:A:G p.(Leu2862=) NC_000005.10:13788778:A:G p.(Leu2862=) NC_000005.10:13788778:A:G Identity +NM_001281428.2:c.1098G>A NP_001268357.1:p.Arg366= NC_000009.12:34506648:G:A p.(Arg366=) NC_000009.12:34506648:G:A p.(Arg366=) NC_000009.12:34506648:G:A Identity +NM_001277115.2:c.7560A>C NP_001264044.1:p.Val2520= NC_000007.14:21735758:A:C p.(Val2520=) NC_000007.14:21735758:A:C p.(Val2520=) NC_000007.14:21735758:A:C Identity +NM_020433.5:c.519C>A NP_065166.2:p.Gly173= NC_000020.11:44160267:G:T p.(Gly173=) NC_000020.11:44160267:G:T p.(Gly173=) NC_000020.11:44160267:G:T Identity +NM_001206927.2:c.6906T>C NP_001193856.1:p.Tyr2302= NC_000006.12:38870477:T:C p.(Tyr2302=) NC_000006.12:38870477:T:C p.(Tyr2302=) NC_000006.12:38870477:T:C Identity +NM_001369.3:c.11526T>A NP_001360.1:p.Thr3842= NC_000005.10:13735861:A:T p.(Thr3842=) NC_000005.10:13735861:A:T p.(Thr3842=) NC_000005.10:13735861:A:T Identity +NM_181426.2:c.1698T>C NP_852091.1:p.Leu566= NC_000003.12:180642168:A:G p.(Leu566=) NC_000003.12:180642168:A:G p.(Leu566=) NC_000003.12:180642168:A:G Identity +NM_001277115.2:c.12654G>C NP_001264044.1:p.Leu4218= NC_000007.14:21892570:G:C p.(Leu4218=) NC_000007.14:21892570:G:C p.(Leu4218=) NC_000007.14:21892570:G:C Identity +NM_020433.5:c.1173A>G NP_065166.2:p.Thr391= NC_000020.11:44118619:T:C p.(Thr391=) NC_000020.11:44118619:T:C p.(Thr391=) NC_000020.11:44118619:T:C Identity +NM_001193341.2:c.9C>G NP_001180270.1:p.Ala3= NC_000006.12:43645106:C:G p.(Ala3=) NC_000006.12:43645106:C:G p.(Ala3=) NC_000006.12:43645106:C:G Identity +NM_001206927.2:c.12625C>A NP_001193856.1:p.Arg4209= NC_000006.12:38973759:C:A p.(Arg4209=) NC_000006.12:38973759:C:A p.(Arg4209=) NC_000006.12:38973759:C:A Identity +NM_000256.3:c.1404G>T NP_000247.2:p.Gly468= NC_000011.10:47342882:C:A p.(Gly468=) NC_000011.10:47342882:C:A p.(Gly468=) NC_000011.10:47342882:C:A Identity +NM_001318756.1:c.870T>C NP_001305685.1:p.Leu290= NC_000016.10:84172308:T:C p.(Leu290=) NC_000016.10:84172308:T:C p.(Leu290=) NC_000016.10:84172308:T:C Identity +NM_001243342.2:c.225A>G NP_001230271.1:p.Ala75= NC_000017.11:80039942:A:G p.(Ala75=) NC_000017.11:80039942:A:G p.(Ala75=) NC_000017.11:80039942:A:G Identity +NM_001277115.2:c.12180G>A NP_001264044.1:p.Leu4060= NC_000007.14:21873485:G:A p.(Leu4060=) NC_000007.14:21873485:G:A p.(Leu4060=) NC_000007.14:21873485:G:A Identity +NM_001258395.2:c.66T>C NP_001245324.1:p.Ala22= NC_000017.11:44901063:T:C p.(Ala22=) NC_000017.11:44901063:T:C p.(Ala22=) NC_000017.11:44901063:T:C Identity +NM_001256714.1:c.702C>T NP_001243643.1:p.Ala234= NC_000019.10:55161807:G:A p.(Ala234=) NC_000019.10:55161807:G:A p.(Ala234=) NC_000019.10:55161807:G:A Identity +NM_001277115.2:c.4260G>A NP_001264044.1:p.Lys1420= NC_000007.14:21619104:G:A p.(Lys1420=) NC_000007.14:21619104:G:A p.(Lys1420=) NC_000007.14:21619104:G:A Identity +NM_001206927.2:c.13035A>G NP_001193856.1:p.Leu4345= NC_000006.12:38984288:A:G p.(Leu4345=) NC_000006.12:38984288:A:G p.(Leu4345=) NC_000006.12:38984288:A:G Identity +NM_000256.3:c.2406C>T NP_000247.2:p.Pro802= NC_000011.10:47337696:G:A p.(Pro802=) NC_000011.10:47337696:G:A p.(Pro802=) NC_000011.10:47337696:G:A Identity +NM_001206927.2:c.6753A>G NP_001193856.1:p.Gln2251= NC_000006.12:38868120:A:G p.(Gln2251=) NC_000006.12:38868120:A:G p.(Gln2251=) NC_000006.12:38868120:A:G Identity +NM_001034853.2:c.2619A>G NP_001030025.1:p.Glu873= NC_000023.11:38286379:T:C p.(Glu873=) NC_000023.11:38286379:T:C p.(Glu873=) NC_000023.11:38286379:T:C Identity +NM_001277115.2:c.4146C>T NP_001264044.1:p.Gly1382= NC_000007.14:21617668:C:T p.(Gly1382=) NC_000007.14:21617668:C:T p.(Gly1382=) NC_000007.14:21617668:C:T Identity +NM_001277115.2:c.6594G>C NP_001264044.1:p.Pro2198= NC_000007.14:21707745:G:C p.(Pro2198=) NC_000007.14:21707745:G:C p.(Pro2198=) NC_000007.14:21707745:G:C Identity +NM_001206927.2:c.12876C>T NP_001193856.1:p.Tyr4292= NC_000006.12:38982386:C:T p.(Tyr4292=) NC_000006.12:38982386:C:T p.(Tyr4292=) NC_000006.12:38982386:C:T Identity +NM_001206927.2:c.6867T>C NP_001193856.1:p.Asn2289= NC_000006.12:38870438:T:C p.(Asn2289=) NC_000006.12:38870438:T:C p.(Asn2289=) NC_000006.12:38870438:T:C Identity +NM_001277115.2:c.6669A>G NP_001264044.1:p.Glu2223= NC_000007.14:21707820:A:G p.(Glu2223=) NC_000007.14:21707820:A:G p.(Glu2223=) NC_000007.14:21707820:A:G Identity +NM_001277115.2:c.5631T>C NP_001264044.1:p.Ile1877= NC_000007.14:21687107:T:C p.(Ile1877=) NC_000007.14:21687107:T:C p.(Ile1877=) NC_000007.14:21687107:T:C Identity +NM_001277115.2:c.8193A>C NP_001264044.1:p.Pro2731= NC_000007.14:21744475:A:C p.(Pro2731=) NC_000007.14:21744475:A:C p.(Pro2731=) NC_000007.14:21744475:A:C Identity +NM_181426.2:c.1737A>G NP_852091.1:p.Ala579= NC_000003.12:180642129:T:C p.(Ala579=) NC_000003.12:180642129:T:C p.(Ala579=) NC_000003.12:180642129:T:C Identity +NM_001277115.2:c.5338C>T NP_001264044.1:p.Leu1780= NC_000007.14:21681554:C:T p.(Leu1780=) NC_000007.14:21681554:C:T p.(Leu1780=) NC_000007.14:21681554:C:T Identity +NM_001277115.2:c.5310G>A NP_001264044.1:p.Lys1770= NC_000007.14:21659012:G:A p.(Lys1770=) NC_000007.14:21659012:G:A p.(Lys1770=) NC_000007.14:21659012:G:A Identity +NM_001172810.3:c.300G>A NP_001166281.1:p.Val100= NC_000017.11:74285155:G:A p.(Val100=) NC_000017.11:74285155:G:A p.(Val100=) NC_000017.11:74285155:G:A Identity +NM_001369.3:c.13398C>T NP_001360.1:p.Ser4466= NC_000005.10:13701376:G:A p.(Ser4466=) NC_000005.10:13701376:G:A p.(Ser4466=) NC_000005.10:13701376:G:A Identity +NM_001122633.3:c.4117A>C NP_001116105.2:p.Arg1373= NC_000002.12:210674916:A:C p.(Arg1373=) NC_000002.12:210674916:A:C p.(Arg1373=) NC_000002.12:210674916:A:C Identity +NM_001277115.2:c.6960C>T NP_001264044.1:p.Asn2320= NC_000007.14:21711836:C:T p.(Asn2320=) NC_000007.14:21711836:C:T p.(Asn2320=) NC_000007.14:21711836:C:T Identity +NM_001369.3:c.3438C>T NP_001360.1:p.His1146= NC_000005.10:13871723:G:A p.(His1146=) NC_000005.10:13871723:G:A p.(His1146=) NC_000005.10:13871723:G:A Identity +NM_001034853.2:c.2496G>A NP_001030025.1:p.Glu832= NC_000023.11:38286502:C:T p.(Glu832=) NC_000023.11:38286502:C:T p.(Glu832=) NC_000023.11:38286502:C:T Identity +NM_001277115.2:c.3882A>G NP_001264044.1:p.Glu1294= NC_000007.14:21615142:A:G p.(Glu1294=) NC_000007.14:21615142:A:G p.(Glu1294=) NC_000007.14:21615142:A:G Identity +NM_001193341.2:c.66G>A NP_001180270.1:p.Pro22= NC_000006.12:43645163:G:A p.(Pro22=) NC_000006.12:43645163:G:A p.(Pro22=) NC_000006.12:43645163:G:A Identity +NM_001277115.2:c.5907C>T NP_001264044.1:p.Ile1969= NC_000007.14:21687509:C:T p.(Ile1969=) NC_000007.14:21687509:C:T p.(Ile1969=) NC_000007.14:21687509:C:T Identity +NM_001318360.2:c.1662T>C NP_001305289.1:p.Ala554= NC_000009.12:108901434:A:G p.(Ala554=) NC_000009.12:108901434:A:G p.(Ala554=) NC_000009.12:108901434:A:G Identity +NM_001369.3:c.13470A>T NP_001360.1:p.Gly4490= NC_000005.10:13701304:T:A p.(Gly4490=) NC_000005.10:13701304:T:A p.(Gly4490=) NC_000005.10:13701304:T:A Identity +NM_000257.4:c.5547G>A NP_000248.2:p.Glu1849= NC_000014.9:23415006:C:T p.(Glu1849=) NC_000014.9:23415006:C:T p.(Glu1849=) NC_000014.9:23415006:C:T Identity +NM_000257.4:c.2895G>A NP_000248.2:p.Glu965= NC_000014.9:23423933:C:T p.(Glu965=) NC_000014.9:23423933:C:T p.(Glu965=) NC_000014.9:23423933:C:T Identity +NM_000257.4:c.5010C>T NP_000248.2:p.Asn1670= NC_000014.9:23415775:G:A p.(Asn1670=) NC_000014.9:23415775:G:A p.(Asn1670=) NC_000014.9:23415775:G:A Identity +NM_000256.3:c.3678C>T NP_000247.2:p.Arg1226= NC_000011.10:47332207:G:A p.(Arg1226=) NC_000011.10:47332207:G:A p.(Arg1226=) NC_000011.10:47332207:G:A Identity +NM_000256.3:c.319_320insACCCTG NP_000247.2:p.Pro106_Ala107insAspPro NC_000011.10:47350588:CAGGG:CAGGGTCAGGG p.(Pro106_Ala107insAspPro) NC_000011.10:47350587:G:CAGGGT p.(Pro106_Ala107insAspPro) NC_000011.10:47350588:GC:CAGGGT Identity +NM_000257.4:c.4236C>G NP_000248.2:p.Ser1412= NC_000014.9:23417619:G:C p.(Ser1412=) NC_000014.9:23417619:G:C p.(Ser1412=) NC_000014.9:23417619:G:C Identity +NM_000257.4:c.4590A>C NP_000248.2:p.Arg1530= NC_000014.9:23416921:T:G p.(Arg1530=) NC_000014.9:23416921:T:G p.(Arg1530=) NC_000014.9:23416921:T:G Identity +NM_001406482.1:c.816A>G NP_001393411.1:p.Glu272= NC_000015.10:34791287:T:C p.(Glu272=) NC_000015.10:34791287:T:C p.(Glu272=) NC_000015.10:34791287:T:C Identity +NM_178452.6:c.327T>C NP_848547.4:p.Asn109= NC_000016.10:84150316:T:C p.(Asn109=) NC_000016.10:84150316:T:C p.(Asn109=) NC_000016.10:84150316:T:C Identity +NM_000256.3:c.1152C>A NP_000247.2:p.Thr384= NC_000011.10:47343562:G:T p.(Thr384=) NC_000011.10:47343562:G:T p.(Thr384=) NC_000011.10:47343562:G:T Identity +NM_001127897.4:c.2622T>C NP_001121369.1:p.Asn874= NC_000016.10:53645685:A:G p.(Asn874=) NC_000016.10:53645685:A:G p.(Asn874=) NC_000016.10:53645685:A:G Identity +NM_000256.3:c.1629G>A NP_000247.2:p.Lys543= NC_000011.10:47342151:C:T p.(Lys543=) NC_000011.10:47342151:C:T p.(Lys543=) NC_000011.10:47342151:C:T Identity +NM_000432.4:c.399_400insTCTCACTCT NP_000423.2:p.Glu133_Glu134insSerHisSer NC_000012.12:110913098::AGAGTGAGA p.(Glu133_Glu134insSerHisSer) NC_000012.12:110913097:C:AGAGTGAGA p.(Glu133_Glu134insSerHisSer) NC_000012.12:110913098:CC:AGAGTGAGA Identity +NM_000258.3:c.159G>A NP_000249.1:p.Glu53= NC_000003.12:46860823:C:T p.(Glu53=) NC_000003.12:46860823:C:T p.(Glu53=) NC_000003.12:46860823:C:T Identity +NM_001040633.2:c.510G>A NP_001035723.1:p.Arg170= NC_000007.14:151675461:C:T p.(Arg170=) NC_000007.14:151675461:C:T p.(Arg170=) NC_000007.14:151675461:C:T Identity +NM_000257.4:c.513C>T NP_000248.2:p.Asn171= NC_000014.9:23432495:G:A p.(Asn171=) NC_000014.9:23432495:G:A p.(Asn171=) NC_000014.9:23432495:G:A Identity +NM_000257.4:c.4024C>T NP_000248.2:p.Leu1342= NC_000014.9:23418354:G:A p.(Leu1342=) NC_000014.9:23418354:G:A p.(Leu1342=) NC_000014.9:23418354:G:A Identity +NM_001277115.2:c.5322A>G NP_001264044.1:p.Lys1774= NC_000007.14:21659024:A:G p.(Lys1774=) NC_000007.14:21659024:A:G p.(Lys1774=) NC_000007.14:21659024:A:G Identity +NM_001277115.2:c.3564A>G NP_001264044.1:p.Glu1188= NC_000007.14:21601533:A:G p.(Glu1188=) NC_000007.14:21601533:A:G p.(Glu1188=) NC_000007.14:21601533:A:G Identity +NM_001206927.2:c.8016A>G NP_001193856.1:p.Thr2672= NC_000006.12:38883335:A:G p.(Thr2672=) NC_000006.12:38883335:A:G p.(Thr2672=) NC_000006.12:38883335:A:G Identity +NM_001318756.1:c.750A>C NP_001305685.1:p.Gly250= NC_000016.10:84170285:A:C p.(Gly250=) NC_000016.10:84170285:A:C p.(Gly250=) NC_000016.10:84170285:A:C Identity +NM_001206927.2:c.7653C>T NP_001193856.1:p.Ser2551= NC_000006.12:38875622:C:T p.(Ser2551=) NC_000006.12:38875622:C:T p.(Ser2551=) NC_000006.12:38875622:C:T Identity +NM_001277115.2:c.2010A>G NP_001264044.1:p.Gln670= NC_000007.14:21589243:A:G p.(Gln670=) NC_000007.14:21589243:A:G p.(Gln670=) NC_000007.14:21589243:A:G Identity +NM_001277115.2:c.4173A>G NP_001264044.1:p.Thr1391= NC_000007.14:21617695:A:G p.(Thr1391=) NC_000007.14:21617695:A:G p.(Thr1391=) NC_000007.14:21617695:A:G Identity +NM_001172810.3:c.1335C>T NP_001166281.1:p.Thr445= NC_000017.11:74309375:C:T p.(Thr445=) NC_000017.11:74309375:C:T p.(Thr445=) NC_000017.11:74309375:C:T Identity +NM_001369.3:c.882C>A NP_001360.1:p.Leu294= NC_000005.10:13919268:G:T p.(Leu294=) NC_000005.10:13919268:G:T p.(Leu294=) NC_000005.10:13919268:G:T Identity +NM_001369.3:c.492G>A NP_001360.1:p.Val164= NC_000005.10:13922274:C:T p.(Val164=) NC_000005.10:13922274:C:T p.(Val164=) NC_000005.10:13922274:C:T Identity +NM_000256.3:c.1146G>A NP_000247.2:p.Arg382= NC_000011.10:47343568:C:T p.(Arg382=) NC_000011.10:47343568:C:T p.(Arg382=) NC_000011.10:47343568:C:T Identity +NM_001190787.3:c.576G>T NP_001177716.1:p.Ala192= NC_000005.10:55222205:C:A p.(Ala192=) NC_000005.10:55222205:C:A p.(Ala192=) NC_000005.10:55222205:C:A Identity +NM_021147.5:c.471G>T NP_066970.3:p.Thr157= NC_000005.10:55232456:C:A p.(Thr157=) NC_000005.10:55232456:C:A p.(Thr157=) NC_000005.10:55232456:C:A Identity +NM_001206927.2:c.9996T>G NP_001193856.1:p.Ala3332= NC_000006.12:38915232:T:G p.(Ala3332=) NC_000006.12:38915232:T:G p.(Ala3332=) NC_000006.12:38915232:T:G Identity +NM_000366.6:c.777G>A NP_000357.3:p.Glu259= NC_000015.10:63064067:G:A p.(Glu259=) NC_000015.10:63064067:G:A p.(Glu259=) NC_000015.10:63064067:G:A Identity +NM_001243342.2:c.2349G>A NP_001230271.1:p.Glu783= NC_000017.11:80086115:G:A p.(Glu783=) NC_000017.11:80086115:G:A p.(Glu783=) NC_000017.11:80086115:G:A Identity +NM_001206927.2:c.13992G>A NP_001193856.1:p.Leu4664= NC_000006.12:39030259:G:A p.(Leu4664=) NC_000006.12:39030259:G:A p.(Leu4664=) NC_000006.12:39030259:G:A Identity +NM_003803.4:c.2538A>G NP_003794.3:p.Ala846= NC_000018.10:3129487:T:C p.(Ala846=) NC_000018.10:3129487:T:C p.(Ala846=) NC_000018.10:3129487:T:C Identity +NM_145038.5:c.456G>A NP_659475.2:p.Glu152= NC_000002.12:26424369:G:A p.(Glu152=) NC_000002.12:26424369:G:A p.(Glu152=) NC_000002.12:26424369:G:A Identity +NM_001369.3:c.12184T>C NP_001360.1:p.Leu4062= NC_000005.10:13721094:A:G p.(Leu4062=) NC_000005.10:13721094:A:G p.(Leu4062=) NC_000005.10:13721094:A:G Identity +NM_001369.3:c.2550C>T NP_001360.1:p.Thr850= NC_000005.10:13891002:G:A p.(Thr850=) NC_000005.10:13891002:G:A p.(Thr850=) NC_000005.10:13891002:G:A Identity +NM_000328.3:c.1171C>T NP_000319.1:p.Leu391= NC_000023.11:38299029:G:A p.(Leu391=) NC_000023.11:38299029:G:A p.(Leu391=) NC_000023.11:38299029:G:A Identity +NM_000257.4:c.3027C>T NP_000248.2:p.Asp1009= NC_000014.9:23423618:G:A p.(Asp1009=) NC_000014.9:23423618:G:A p.(Asp1009=) NC_000014.9:23423618:G:A Identity +NM_001206927.2:c.4278A>C NP_001193856.1:p.Ile1426= NC_000006.12:38832410:A:C p.(Ile1426=) NC_000006.12:38832410:A:C p.(Ile1426=) NC_000006.12:38832410:A:C Identity +NM_001277115.2:c.8661C>T NP_001264044.1:p.Ile2887= NC_000007.14:21748729:C:T p.(Ile2887=) NC_000007.14:21748729:C:T p.(Ile2887=) NC_000007.14:21748729:C:T Identity +NM_001172810.3:c.1398G>A NP_001166281.1:p.Leu466= NC_000017.11:74310102:G:A p.(Leu466=) NC_000017.11:74310102:G:A p.(Leu466=) NC_000017.11:74310102:G:A Identity +NM_001277115.2:c.9936T>C NP_001264044.1:p.Asp3312= NC_000007.14:21789251:T:C p.(Asp3312=) NC_000007.14:21789251:T:C p.(Asp3312=) NC_000007.14:21789251:T:C Identity +NM_001369.3:c.2691A>G NP_001360.1:p.Glu897= NC_000005.10:13886015:T:C p.(Glu897=) NC_000005.10:13886015:T:C p.(Glu897=) NC_000005.10:13886015:T:C Identity +NM_001369.3:c.8817C>T NP_001360.1:p.Val2939= NC_000005.10:13786181:G:A p.(Val2939=) NC_000005.10:13786181:G:A p.(Val2939=) NC_000005.10:13786181:G:A Identity +NM_001943.5:c.3312C>T NP_001934.2:p.Ser1104= NC_000018.10:31546697:C:T p.(Ser1104=) NC_000018.10:31546697:C:T p.(Ser1104=) NC_000018.10:31546697:C:T Identity +NM_001008844.3:c.6792A>C NP_001008844.1:p.Ser2264= NC_000006.12:7585850:A:C p.(Ser2264=) NC_000006.12:7585850:A:C p.(Ser2264=) NC_000006.12:7585850:A:C Identity +NM_004415.4:c.4702C>T NP_004406.2:p.Leu1568= NC_000006.12:7580891:C:T p.(Leu1568=) NC_000006.12:7580891:C:T p.(Leu1568=) NC_000006.12:7580891:C:T Identity +NM_001364171.2:c.570T>C NP_001351100.1:p.Tyr190= NC_000019.10:48311579:A:G p.(Tyr190=) NC_000019.10:48311579:A:G p.(Tyr190=) NC_000019.10:48311579:A:G Identity +NM_001330540.2:c.570C>T NP_001317469.1:p.Ser190= NC_000001.11:45509106:C:T p.(Ser190=) NC_000001.11:45509106:C:T p.(Ser190=) NC_000001.11:45509106:C:T Identity +NM_001330358.2:c.753C>T NP_001317287.1:p.Asp251= NC_000001.11:11796355:G:A p.(Asp251=) NC_000001.11:11796355:G:A p.(Asp251=) NC_000001.11:11796355:G:A Identity +NM_000252.3:c.39C>T NP_000243.1:p.Ser13= NC_000023.11:150592652:C:T p.(Ser13=) NC_000023.11:150592652:C:T p.(Ser13=) NC_000023.11:150592652:C:T Identity +NM_000253.4:c.1518T>G NP_000244.2:p.Thr506= NC_000004.12:99606920:T:G p.(Thr506=) NC_000004.12:99606920:T:G p.(Thr506=) NC_000004.12:99606920:T:G Identity +NM_000263.4:c.1147C>T NP_000254.2:p.Leu383= NC_000017.11:42543152:C:T p.(Leu383=) NC_000017.11:42543152:C:T p.(Leu383=) NC_000017.11:42543152:C:T Identity +NM_001164507.2:c.9846T>C NP_001157979.2:p.Asp3282= NC_000002.12:151627819:A:G p.(Asp3282=) NC_000002.12:151627819:A:G p.(Asp3282=) NC_000002.12:151627819:A:G Identity +NM_001164507.2:c.19953C>T NP_001157979.2:p.Tyr6651= NC_000002.12:151549731:G:A p.(Tyr6651=) NC_000002.12:151549731:G:A p.(Tyr6651=) NC_000002.12:151549731:G:A Identity +NM_004646.4:c.1458C>A NP_004637.1:p.Thr486= NC_000019.10:35846176:G:T p.(Thr486=) NC_000019.10:35846176:G:T p.(Thr486=) NC_000019.10:35846176:G:T Identity +NM_000277.3:c.1323T>A NP_000268.1:p.Ile441= NC_000012.12:102839210:A:T p.(Ile441=) NC_000012.12:102839210:A:T p.(Ile441=) NC_000012.12:102839210:A:T Identity +NM_001142763.2:c.5397_5402del NP_001136235.1:p.Pro1800_Thr1801del NC_000010.11:53822344:GTAGGAG:G p.(Pro1800_Thr1801del) NC_000010.11:53822344:GTAGGAG:G p.(Pro1800_Thr1801del) NC_000010.11:53822344:GTAGGA: Identity +NM_001354745.2:c.1533T>A NP_001341674.1:p.Val511= NC_000012.12:48142032:T:A p.(Val511=) NC_000012.12:48142032:T:A p.(Val511=) NC_000012.12:48142032:T:A Identity +NM_006623.4:c.243_257del NP_006614.2:p.Asp81_Leu85del NC_000001.11:119721269:TGGACAATGTGGATCTGGA:TGGA p.(Asp81_Leu85del) NC_000001.11:119721269:TGGACAATGTGGATCTGGA:TGGA p.(Asp81_Leu85del) NC_000001.11:119721273:CAATGTGGATCTGGA: Identity +NM_138694.4:c.8280G>A NP_619639.3:p.Gly2760= NC_000006.12:51830882:C:T p.(Gly2760=) NC_000006.12:51830882:C:T p.(Gly2760=) NC_000006.12:51830882:C:T Identity +NM_138694.4:c.3420T>C NP_619639.3:p.Asp1140= NC_000006.12:52028295:A:G p.(Asp1140=) NC_000006.12:52028295:A:G p.(Asp1140=) NC_000006.12:52028295:A:G Identity +NM_138694.4:c.996T>C NP_619639.3:p.Phe332= NC_000006.12:52062640:A:G p.(Phe332=) NC_000006.12:52062640:A:G p.(Phe332=) NC_000006.12:52062640:A:G Identity +NM_138694.4:c.3120A>T NP_619639.3:p.Arg1040= NC_000006.12:52035698:T:A p.(Arg1040=) NC_000006.12:52035698:T:A p.(Arg1040=) NC_000006.12:52035698:T:A Identity +NM_000329.3:c.672G>A NP_000320.1:p.Glu224= NC_000001.11:68439613:C:T p.(Glu224=) NC_000001.11:68439613:C:T p.(Glu224=) NC_000001.11:68439613:C:T Identity +NM_001127897.4:c.2436C>T NP_001121369.1:p.His812= NC_000016.10:53645871:G:A p.(His812=) NC_000016.10:53645871:G:A p.(His812=) NC_000016.10:53645871:G:A Identity +NM_001278055.2:c.12384C>T NP_001264984.1:p.Ser4128= NC_000013.11:23331050:G:A p.(Ser4128=) NC_000013.11:23331050:G:A p.(Ser4128=) NC_000013.11:23331050:G:A Identity +NM_001410714.1:c.452_455del NP_001397643.1:p.Asn150_Phe151insTer NC_000004.12:25159021:AAGAAA:AA p.(Phe151Ter) NC_000004.12:25159021:AAGAAA:AA p.(Phe151Ter) NC_000004.12:25159021:AAGA: Analogous +NM_000023.4:c.540C>T NP_000014.1:p.Asp180= NC_000017.11:50168527:C:T p.(Asp180=) NC_000017.11:50168527:C:T p.(Asp180=) NC_000017.11:50168527:C:T Identity +NM_000339.3:c.1113C>A NP_000330.3:p.Ile371= NC_000016.10:56878093:C:A p.(Ile371=) NC_000016.10:56878093:C:A p.(Ile371=) NC_000016.10:56878093:C:A Identity +NM_000339.3:c.1221C>T NP_000330.3:p.Asp407= NC_000016.10:56879112:C:T p.(Asp407=) NC_000016.10:56879112:C:T p.(Asp407=) NC_000016.10:56879112:C:T Identity +NM_014252.4:c.87C>G NP_055067.1:p.Pro29= NC_000013.11:40799087:C:G p.(Pro29=) NC_000013.11:40799087:C:G p.(Pro29=) NC_000013.11:40799087:C:G Identity +NM_001178075.2:c.492T>C NP_001171546.1:p.Tyr164= NC_000007.14:97859330:A:G p.(Tyr164=) NC_000007.14:97859330:A:G p.(Tyr164=) NC_000007.14:97859330:A:G Identity +NM_001174089.2:c.237C>T NP_001167560.1:p.Asn79= NC_000020.11:3234745:G:A p.(Asn79=) NC_000020.11:3234745:G:A p.(Asn79=) NC_000020.11:3234745:G:A Identity +NM_001142805.2:c.756G>A NP_001136277.1:p.Lys252= NC_000023.11:153692085:G:A p.(Lys252=) NC_000023.11:153692085:G:A p.(Lys252=) NC_000023.11:153692085:G:A Identity +NM_001164674.2:c.234C>G NP_001158146.1:p.Gly78= NC_000003.12:4467011:G:C p.(Gly78=) NC_000003.12:4467011:G:C p.(Gly78=) NC_000003.12:4467011:G:C Identity +NM_001113755.3:c.888C>T NP_001107227.1:p.Gly296= NC_000022.11:50526615:G:A p.(Gly296=) NC_000022.11:50526615:G:A p.(Gly296=) NC_000022.11:50526615:G:A Identity +NM_001113755.3:c.498C>G NP_001107227.1:p.Val166= NC_000022.11:50528529:G:C p.(Val166=) NC_000022.11:50528529:G:C p.(Val166=) NC_000022.11:50528529:G:C Identity +NM_206933.4:c.5640C>T NP_996816.3:p.Ser1880= NC_000001.11:216073232:G:A p.(Ser1880=) NC_000001.11:216073232:G:A p.(Ser1880=) NC_000001.11:216073232:G:A Identity +NM_206933.4:c.6096A>C NP_996816.3:p.Leu2032= NC_000001.11:216048600:T:G p.(Leu2032=) NC_000001.11:216048600:T:G p.(Leu2032=) NC_000001.11:216048600:T:G Identity +NM_206933.4:c.12140_12145dup NP_996816.3:p.His4048_Ala4049insAspHis NC_000001.11:215680297:CATGGT:CATGGTCATGGT p.(His4048_Ala4049insAspHis) NC_000001.11:215680297:CATGGT:CATGGTCATGGT p.(His4048_Ala4049insAspHis) ERR:SPDI Identity +NM_001018038.3:c.3225T>A NP_001018048.1:p.Ile1075= NC_000009.12:77283460:T:A p.(Ile1075=) NC_000009.12:77283460:T:A p.(Ile1075=) NC_000009.12:77283460:T:A Identity +NM_017890.5:c.8490A>G NP_060360.3:p.Leu2830= NC_000008.11:99818503:A:G p.(Leu2830=) NC_000008.11:99818503:A:G p.(Leu2830=) NC_000008.11:99818503:A:G Identity +NM_015243.3:c.720T>C NP_056058.2:p.Phe240= NC_000008.11:99111236:T:C p.(Phe240=) NC_000008.11:99111236:T:C p.(Phe240=) NC_000008.11:99111236:T:C Identity +NM_017890.5:c.11871G>A NP_060360.3:p.Val3957= NC_000008.11:99875467:G:A p.(Val3957=) NC_000008.11:99875467:G:A p.(Val3957=) NC_000008.11:99875467:G:A Identity +NM_001406521.1:c.1638C>T NP_001393450.1:p.Ile546= NC_000013.11:51968512:G:A p.(Ile546=) NC_000013.11:51968512:G:A p.(Ile546=) NC_000013.11:51968512:G:A Identity +NM_000489.6:c.2004A>G NP_000480.3:p.Thr668= NC_000023.11:77683251:T:C p.(Thr668=) NC_000023.11:77683251:T:C p.(Thr668=) NC_000023.11:77683251:T:C Identity +NM_000489.6:c.1611A>G NP_000480.3:p.Glu537= NC_000023.11:77683644:T:C p.(Glu537=) NC_000023.11:77683644:T:C p.(Glu537=) NC_000023.11:77683644:T:C Identity +NM_000489.6:c.4449T>C NP_000480.3:p.Ile1483= NC_000023.11:77652221:A:G p.(Ile1483=) NC_000023.11:77652221:A:G p.(Ile1483=) NC_000023.11:77652221:A:G Identity +NM_001377456.1:c.447T>C NP_001364385.1:p.His149= NC_000016.10:56511182:A:G p.(His149=) NC_000016.10:56511182:A:G p.(His149=) NC_000016.10:56511182:A:G Identity +NM_057176.3:c.960C>T NP_476517.1:p.Gly320= NC_000001.11:55008624:C:T p.(Gly320=) NC_000001.11:55008624:C:T p.(Gly320=) NC_000001.11:55008624:C:T Identity +NM_000071.3:c.132C>A NP_000062.1:p.Ile44= NC_000021.9:43072061:G:T p.(Ile44=) NC_000021.9:43072061:G:T p.(Ile44=) NC_000021.9:43072061:G:T Identity +NM_025114.4:c.867A>T NP_079390.3:p.Thr289= NC_000012.12:88129020:T:A p.(Thr289=) NC_000012.12:88129020:T:A p.(Thr289=) NC_000012.12:88129020:T:A Identity +NM_000016.6:c.234T>C NP_000007.1:p.Ile78= NC_000001.11:75732869:T:C p.(Ile78=) NC_000001.11:75732869:T:C p.(Ile78=) NC_000001.11:75732869:T:C Identity +NM_000492.4:c.2985C>A NP_000483.3:p.Ile995= NC_000007.14:117606749:C:A p.(Ile995=) NC_000007.14:117606749:C:A p.(Ile995=) NC_000007.14:117606749:C:A Identity +NM_000492.4:c.1380T>C NP_000483.3:p.Thr460= NC_000007.14:117548810:T:C p.(Thr460=) NC_000007.14:117548810:T:C p.(Thr460=) NC_000007.14:117548810:T:C Identity +NM_000492.4:c.2485T>C NP_000483.3:p.Leu829= NC_000007.14:117592651:T:C p.(Leu829=) NC_000007.14:117592651:T:C p.(Leu829=) NC_000007.14:117592651:T:C Identity +NM_000246.4:c.2520C>G NP_000237.2:p.Leu840= NC_000016.10:10908011:C:G p.(Leu840=) NC_000016.10:10908011:C:G p.(Leu840=) NC_000016.10:10908011:C:G Identity +NM_000086.2:c.597C>T NP_000077.1:p.Tyr199= NC_000016.10:28486426:G:A p.(Tyr199=) NC_000016.10:28486426:G:A p.(Tyr199=) NC_000016.10:28486426:G:A Identity +NM_001122633.3:c.3240C>T NP_001116105.2:p.Pro1080= NC_000002.12:210647960:C:T p.(Pro1080=) NC_000002.12:210647960:C:T p.(Pro1080=) NC_000002.12:210647960:C:T Identity +NM_001031847.3:c.1596C>T NP_001027017.1:p.Thr532= NC_000011.10:68773408:G:A p.(Thr532=) NC_000011.10:68773408:G:A p.(Thr532=) NC_000011.10:68773408:G:A Identity +NM_001193640.2:c.3663_3668dup NP_001180569.1:p.Val1222_Asp1223insGluVal NC_000001.11:197442283:GAGGTGGA:GAGGTGGAGGTGGA p.(Glu1221_Val1222dup) NC_000001.11:197442283:GAGGTGGA:GAGGTGGAGGTGGA p.(Glu1221_Val1222dup) ERR:SPDI Analogous +NM_000396.4:c.335_337dup NP_000387.1:p.Glu112_Gly113insGlu NC_000001.11:150805922:CTTC:CTTCTTC p.(Glu112dup) NC_000001.11:150805922:CTTC:CTTCTTC p.(Glu112dup) ERR:SPDI Analogous +NM_001185039.2:c.615C>T NP_001171968.1:p.Asp205= NC_000017.11:75955610:G:A p.(Asp205=) NC_000017.11:75955610:G:A p.(Asp205=) NC_000017.11:75955610:G:A Identity +NM_000397.4:c.1536A>G NP_000388.2:p.Gly512= NC_000023.11:37809640:A:G p.(Gly512=) NC_000023.11:37809640:A:G p.(Gly512=) NC_000023.11:37809640:A:G Identity +NM_000109.4:c.4629T>C NP_000100.3:p.His1543= NC_000023.11:32386330:A:G p.(His1543=) NC_000023.11:32386330:A:G p.(His1543=) NC_000023.11:32386330:A:G Identity +NM_000109.4:c.162G>T NP_000100.3:p.Leu54= NC_000023.11:32849727:C:A p.(Leu54=) NC_000023.11:32849727:C:A p.(Leu54=) NC_000023.11:32849727:C:A Identity +NM_000109.4:c.561A>T NP_000100.3:p.Arg187= NC_000023.11:32809556:T:A p.(Arg187=) NC_000023.11:32809556:T:A p.(Arg187=) NC_000023.11:32809556:T:A Identity +NM_001369.3:c.12051G>T NP_001360.1:p.Val4017= NC_000005.10:13721227:C:A p.(Val4017=) NC_000005.10:13721227:C:A p.(Val4017=) NC_000005.10:13721227:C:A Identity +NM_001281428.2:c.1026C>T NP_001268357.1:p.Leu342= NC_000009.12:34500833:C:T p.(Leu342=) NC_000009.12:34500833:C:T p.(Leu342=) NC_000009.12:34500833:C:T Identity +NM_001130455.2:c.780C>T NP_001123927.1:p.Ser260= NC_000002.12:71515735:C:T p.(Ser260=) NC_000002.12:71515735:C:T p.(Ser260=) NC_000002.12:71515735:C:T Identity +NM_014244.5:c.348T>C NP_055059.2:p.Phe116= NC_000005.10:179343952:A:G p.(Phe116=) NC_000005.10:179343952:A:G p.(Phe116=) NC_000005.10:179343952:A:G Identity +NM_001318360.2:c.3231G>A NP_001305289.1:p.Ala1077= NC_000009.12:108878749:C:T p.(Ala1077=) NC_000009.12:108878749:C:T p.(Ala1077=) NC_000009.12:108878749:C:T Identity +NM_014244.5:c.1230T>C NP_055059.2:p.Thr410= NC_000005.10:179154821:A:G p.(Thr410=) NC_000005.10:179154821:A:G p.(Thr410=) NC_000005.10:179154821:A:G Identity +NM_001318360.2:c.1587A>T NP_001305289.1:p.Ser529= NC_000009.12:108901509:T:A p.(Ser529=) NC_000009.12:108901509:T:A p.(Ser529=) NC_000009.12:108901509:T:A Identity +NM_000133.4:c.849T>C NP_000124.1:p.Asn283= NC_000023.11:139561533:T:C p.(Asn283=) NC_000023.11:139561533:T:C p.(Asn283=) NC_000023.11:139561533:T:C Identity +NM_000137.4:c.600G>A NP_000128.1:p.Leu200= NC_000015.10:80168309:G:A p.(Leu200=) NC_000015.10:80168309:G:A p.(Leu200=) NC_000015.10:80168309:G:A Identity +NM_000135.4:c.1872C>G NP_000126.2:p.Ala624= NC_000016.10:89775769:G:C p.(Ala624=) NC_000016.10:89775769:G:C p.(Ala624=) NC_000016.10:89775769:G:C Identity +NM_004629.2:c.426G>A NP_004620.1:p.Leu142= NC_000009.12:35078224:C:T p.(Leu142=) NC_000009.12:35078224:C:T p.(Leu142=) NC_000009.12:35078224:C:T Identity +NM_000155.4:c.981G>A NP_000146.2:p.Leu327= NC_000009.12:34649485:G:A p.(Leu327=) NC_000009.12:34649485:G:A p.(Leu327=) NC_000009.12:34649485:G:A Identity +NM_000155.4:c.555C>T NP_000146.2:p.Pro185= NC_000009.12:34648161:C:T p.(Pro185=) NC_000009.12:34648161:C:T p.(Pro185=) NC_000009.12:34648161:C:T Identity +NM_001308164.2:c.72G>A NP_001295093.1:p.Gln24= NC_000003.12:158644705:G:A p.(Gln24=) NC_000003.12:158644705:G:A p.(Gln24=) NC_000003.12:158644705:G:A Identity +NM_000520.6:c.960A>T NP_000511.2:p.Gly320= NC_000015.10:72349104:T:A p.(Gly320=) NC_000015.10:72349104:T:A p.(Gly320=) NC_000015.10:72349104:T:A Identity +NM_001308258.2:c.678G>A NP_001295187.1:p.Leu226= NC_000003.12:149150607:G:A p.(Leu226=) NC_000003.12:149150607:G:A p.(Leu226=) NC_000003.12:149150607:G:A Identity +NM_000198.4:c.549G>T NP_000189.1:p.Ala183= NC_000001.11:119422049:G:T p.(Ala183=) NC_000001.11:119422049:G:T p.(Ala183=) NC_000001.11:119422049:G:T Identity +NM_000203.5:c.1740A>G NP_000194.2:p.Thr580= NC_000004.12:1004023:A:G p.(Thr580=) NC_000004.12:1004023:A:G p.(Thr580=) NC_000004.12:1004023:A:G Identity +NM_001122769.3:c.942A>C NP_001116241.1:p.Ala314= NC_000006.12:79492563:T:G p.(Ala314=) NC_000006.12:79492563:T:G p.(Ala314=) NC_000006.12:79492563:T:G Identity +NM_133259.4:c.1866C>A NP_573566.2:p.Ile622= NC_000002.12:43948175:G:T p.(Ile622=) NC_000002.12:43948175:G:T p.(Ile622=) NC_000002.12:43948175:G:T Identity +NM_000027.4:c.916T>C NP_000018.2:p.Cys306Arg NC_000004.12:177433237:A:G p.(Cys306Arg) NC_000004.12:177433237:A:G p.(Cys306Arg) NC_000004.12:177433237:A:G Identity +NM_001083961.2:c.1576G>A NP_001077430.1:p.Glu526Lys NC_000019.10:36084677:G:A p.(Glu526Lys) NC_000019.10:36084677:G:A p.(Glu526Lys) NC_000019.10:36084677:G:A Identity +NM_001194998.2:c.2959C>T NP_001181927.1:p.Arg987Ter NC_000015.10:48756288:G:A p.(Arg987Ter) NC_000015.10:48756288:G:A p.(Arg987Ter) NC_000015.10:48756288:G:A Identity +NM_000274.4:c.1205T>C NP_000265.1:p.Leu402Pro NC_000010.11:124398056:A:G p.(Leu402Pro) NC_000010.11:124398056:A:G p.(Leu402Pro) NC_000010.11:124398056:A:G Identity +NM_199069.2:c.365G>C NP_951032.1:p.Arg122Pro NC_000003.12:49022902:G:C p.(Arg122Pro) NC_000003.12:49022902:G:C p.(Arg122Pro) NC_000003.12:49022902:G:C Identity +NM_199069.2:c.2T>C NP_951032.1:p.Met1Thr NC_000003.12:49022145:T:C p.(Met1Thr) NC_000003.12:49022145:T:C p.Met1? NC_000003.12:49022145:T:C Identity +LRG_598t2:c.1216dup LRG_598p2:p.His406fs NC_000003.12:186741608:CCCC:CCCCC ERR:Data provider error: ValueError: Transcript LRG_598t2 not found ERR:Data provider error: ValueError: Transcript LRG_598t2 not found ERR:AlignmentMapper(tx_ac=LRG_598t2, alt_ac=LRG_598t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_598t2, alt_ac=LRG_598t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_598t2 not found +LRG_1209t1:c.223T>A LRG_1209p1:p.Cys75Ser NC_000018.10:59480227:A:T ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found ERR:AlignmentMapper(tx_ac=LRG_1209t1, alt_ac=LRG_1209t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1209t1, alt_ac=LRG_1209t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found +NM_000317.3:c.46C>T NP_000308.1:p.Arg16Cys NC_000011.10:112226488:C:T p.(Arg16Cys) NC_000011.10:112226488:C:T p.(Arg16Cys) NC_000011.10:112226488:C:T Identity +NM_001080522.2:c.1762C>T NP_001073991.2:p.Gln588Ter NC_000004.12:15537073:C:T p.(Gln588Ter) NC_000004.12:15537073:C:T p.(Gln588Ter) NC_000004.12:15537073:C:T Identity +NM_001010892.3:c.1468C>T NP_001010892.1:p.Arg490Ter NC_000006.12:116628174:C:T p.(Arg490Ter) NC_000006.12:116628174:C:T p.(Arg490Ter) NC_000006.12:116628174:C:T Identity +NM_001367624.2:c.6027del NP_001354553.1:p.Gly2011fs NC_000016.10:88433496:A: p.(Gly2011AlafsTer16) NC_000016.10:88433496:A: p.(Gly2011AlafsTer16) NC_000016.10:88433496:A: Analogous +NM_000512.5:c.1417C>T NP_000503.1:p.Gln473Ter NC_000016.10:88818071:G:A p.(Gln473Ter) NC_000016.10:88818071:G:A p.(Gln473Ter) NC_000016.10:88818071:G:A Identity +NM_020223.4:c.1163T>G NP_064608.2:p.Leu388Arg NC_000007.14:255938:T:G p.(Leu388Arg) NC_000007.14:255938:T:G p.(Leu388Arg) NC_000007.14:255938:T:G Identity +NM_000038.6:c.3920T>A NP_000029.2:p.Ile1307Lys NC_000005.10:112839513:T:A p.(Ile1307Lys) NC_000005.10:112839513:T:A p.(Ile1307Lys) NC_000005.10:112839513:T:A Identity +NM_000404.4:c.1444C>T NP_000395.3:p.Arg482Cys NC_000003.12:33016743:G:A p.(Arg482Cys) NC_000003.12:33016743:G:A p.(Arg482Cys) NC_000003.12:33016743:G:A Identity +NM_001113378.2:c.3854G>A NP_001106849.1:p.Arg1285Gln NC_000015.10:89315318:G:A p.(Arg1285Gln) NC_000015.10:89315318:G:A p.(Arg1285Gln) NC_000015.10:89315318:G:A Identity +NM_001173408.2:c.1256_1265del NP_001166879.1:p.Arg419fs NC_000002.12:219568071:GCCACGGTGCGC:GC p.(Arg419ProfsTer10) NC_000002.12:219568071:GCCACGGTGCGC:GC p.(Arg419ProfsTer10) NC_000002.12:219568071:GCCACGGTGC: Analogous +NM_001142617.2:c.961A>C NP_001136089.1:p.Thr321Pro NC_000015.10:74189243:T:G p.(Thr321Pro) NC_000015.10:74189243:T:G p.(Thr321Pro) NC_000015.10:74189243:T:G Identity +NM_001142617.2:c.527dup NP_001136089.1:p.Ser177fs NC_000015.10:74195371:CC:CCC p.(Ser177GlnfsTer58) NC_000015.10:74195371:CC:CCC p.(Ser177GlnfsTer58) ERR:SPDI Analogous +NM_001363227.2:c.1345dup NP_001350156.1:p.Asp449fs NC_000008.11:43192397:G:GG p.(Asp449GlyfsTer21) NC_000008.11:43192397:G:GG p.(Asp449GlyfsTer21) ERR:SPDI Analogous +NM_001282785.2:c.28G>T NP_001269714.1:p.Ala10Ser NC_000022.11:46335791:G:T p.(Ala10Ser) NC_000022.11:46335791:G:T p.(Ala10Ser) NC_000022.11:46335791:G:T Identity +NM_182548.4:c.380A>G NP_872354.1:p.Tyr127Cys NC_000006.12:35806049:A:G p.(Tyr127Cys) NC_000006.12:35806049:A:G p.(Tyr127Cys) NC_000006.12:35806049:A:G Identity +NM_001190266.2:c.646A>G NP_001177195.1:p.Thr216Ala NC_000002.12:233274721:A:G p.(Thr216Ala) NC_000002.12:233274721:A:G p.(Thr216Ala) NC_000002.12:233274721:A:G Identity +NM_001256896.2:c.448dup NP_001243825.1:p.Gln150fs NC_000004.12:3493358:CCCCCC:CCCCCCC p.(Gln150ProfsTer59) NC_000004.12:3493358:CCCCCC:CCCCCCC p.(Gln150ProfsTer59) ERR:SPDI Analogous +NM_001321269.2:c.50_54dup NP_001308198.1:p.Asp19fs NC_000017.11:58219176:CCGGG:CCGGGCCGGG p.(Asp19ProfsTer36) NC_000017.11:58219176:CCGGG:CCGGGCCGGG p.(Asp19ProfsTer36) ERR:SPDI Analogous +NM_001177316.2:c.586G>A NP_001170787.2:p.Gly196Arg NC_000009.12:137233233:G:A p.(Gly196Arg) NC_000009.12:137233233:G:A p.(Gly196Arg) NC_000009.12:137233233:G:A Identity +NM_001162497.3:c.565G>A NP_001155969.1:p.Glu189Lys NC_000013.11:48411858:C:T p.(Glu189Lys) NC_000013.11:48411858:C:T p.(Glu189Lys) NC_000013.11:48411858:C:T Identity +NM_000190.4:c.331G>A NP_000181.2:p.Gly111Arg NC_000011.10:119089746:G:A p.(Gly111Arg) NC_000011.10:119089746:G:A p.(Gly111Arg) NC_000011.10:119089746:G:A Identity +NM_000037.4:c.520_539del NP_000028.3:p.Leu174fs NC_000008.11:41725833:GCGATGTGCAGGGCCGGGAGGCG:GCG p.(Leu174GlyfsTer175) NC_000008.11:41725833:GCGATGTGCAGGGCCGGGAGGCG:GCG p.(Leu174GlyfsTer175) NC_000008.11:41725833:GCGATGTGCAGGGCCGGGAG: Analogous +NM_001023570.4:c.445_448del NP_001018864.2:p.Leu149fs NC_000003.12:121808954:AGAGAGA:AGA p.(Leu149SerfsTer31) NC_000003.12:121808954:AGAGAGA:AGA p.(Leu149SerfsTer31) NC_000003.12:121808954:AGAG: Analogous +NM_001142649.2:c.1292C>G NP_001136121.1:p.Ala431Gly NC_000011.10:22255484:C:G p.(Ala431Gly) NC_000011.10:22255484:C:G p.(Ala431Gly) NC_000011.10:22255484:C:G Identity +NM_001142649.2:c.188dup NP_001136121.1:p.Asn63fs NC_000011.10:22221100:AAAAAAA:AAAAAAAA p.(Asn63LysfsTer15) NC_000011.10:22221100:AAAAAAA:AAAAAAAA p.(Asn63LysfsTer15) ERR:SPDI Analogous +NM_001330593.2:c.1561dup NP_001317522.1:p.Arg521fs NC_000008.11:101644221:C:CC p.(Arg521ProfsTer11) NC_000008.11:101644221:C:CC p.(Arg521ProfsTer11) ERR:SPDI Analogous +NM_001193311.2:c.985C>T NP_001180240.2:p.Arg329Trp NC_000007.14:40459196:C:T p.(Arg329Trp) NC_000007.14:40459196:C:T p.(Arg329Trp) NC_000007.14:40459196:C:T Identity +NM_007214.5:c.442_443insA NP_009145.1:p.Ala148fs NC_000006.12:107921806::T p.(Ala148AspfsTer8) NC_000006.12:107921805:G:T p.(Ala148AspfsTer8) NC_000006.12:107921806:GC:T Analogous +NM_033071.5:c.22918C>T NP_149062.2:p.Gln7640Ter NC_000006.12:152201837:G:A p.(Gln7640Ter) NC_000006.12:152201837:G:A p.(Gln7640Ter) NC_000006.12:152201837:G:A Identity +NM_001288989.2:c.3346C>T NP_001275918.1:p.Arg1116Ter NC_000010.11:94254255:C:T p.(Arg1116Ter) NC_000010.11:94254255:C:T p.(Arg1116Ter) NC_000010.11:94254255:C:T Identity +NM_001165979.2:c.3922C>T NP_001159451.1:p.Gln1308Ter NC_000010.11:94283839:C:T p.(Gln1308Ter) NC_000010.11:94283839:C:T p.(Gln1308Ter) NC_000010.11:94283839:C:T Identity +NM_000346.4:c.296del NP_000337.1:p.Ser99fs NC_000017.11:72121686:G: p.(Ser99ThrfsTer11) NC_000017.11:72121686:G: p.(Ser99ThrfsTer11) NC_000017.11:72121686:G: Analogous +NM_001293273.2:c.1243G>C NP_001280202.1:p.Asp415His NC_000003.12:183037217:C:G p.(Asp415His) NC_000003.12:183037217:C:G p.(Asp415His) NC_000003.12:183037217:C:G Identity +NM_001134830.2:c.2168G>A NP_001128302.1:p.Arg723Gln NC_000006.12:135433124:C:T p.(Arg723Gln) NC_000006.12:135433124:C:T p.(Arg723Gln) NC_000006.12:135433124:C:T Identity +NM_000159.4:c.883T>C NP_000150.1:p.Tyr295His NC_000019.10:12896939:T:C p.(Tyr295His) NC_000019.10:12896939:T:C p.(Tyr295His) NC_000019.10:12896939:T:C Identity +NM_001006941.2:c.326T>A NP_001006942.1:p.Met109Lys NC_000003.12:184245332:A:T p.(Met109Lys) NC_000003.12:184245332:A:T p.(Met109Lys) NC_000003.12:184245332:A:T Identity +NM_015384.5:c.7289A>G NP_056199.2:p.Tyr2430Cys NC_000005.10:37057210:A:G p.(Tyr2430Cys) NC_000005.10:37057210:A:G p.(Tyr2430Cys) NC_000005.10:37057210:A:G Identity +NM_001318038.3:c.1029dup NP_001304967.1:p.Thr344fs NC_000022.11:42692922:GGGG:GGGGG p.(Thr344HisfsTer103) NC_000022.11:42692922:GGGG:GGGGG p.(Thr344HisfsTer103) ERR:SPDI Analogous +NM_000551.4:c.241C>T NP_000542.1:p.Pro81Ser NC_000003.12:10142087:C:T p.(Pro81Ser) NC_000003.12:10142087:C:T p.(Pro81Ser) NC_000003.12:10142087:C:T Identity +NM_001164716.1:c.1461del NP_001158188.1:p.Lys487fs NC_000011.10:64751966:TTT:TT p.(Lys487AsnfsTer30) NC_000011.10:64751966:TTT:TT p.(Lys487AsnfsTer30) NC_000011.10:64751966:T: Analogous +NM_007123.6:c.240_241insGATC NP_009054.6:p.Gln81fs NC_000001.11:216422096:G:GATCG p.(Gln81AspfsTer28) NC_000001.11:216422095:G:GATC p.(Gln81AspfsTer28) NC_000001.11:216422096:GG:GATC Analogous +LRG_336t1:c.2945G>A LRG_336p1:p.Gly982Asp NC_000002.12:210640044:G:A ERR:Data provider error: ValueError: Transcript LRG_336t1 not found ERR:Data provider error: ValueError: Transcript LRG_336t1 not found ERR:AlignmentMapper(tx_ac=LRG_336t1, alt_ac=LRG_336t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_336t1, alt_ac=LRG_336t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_336t1 not found +NM_001173463.2:c.2802G>A NP_001166934.1:p.Met934Ile NC_000012.12:39332605:C:T p.(Met934Ile) NC_000012.12:39332605:C:T p.(Met934Ile) NC_000012.12:39332605:C:T Identity +NM_001007027.3:c.139A>C NP_001007028.1:p.Thr47Pro NC_000011.10:78127392:T:G p.(Thr47Pro) NC_000011.10:78127392:T:G p.(Thr47Pro) NC_000011.10:78127392:T:G Identity +LRG_479t1:c.1073G>A LRG_479p1:p.Arg358His NC_000017.11:44383629:C:T ERR:Data provider error: ValueError: Transcript LRG_479t1 not found ERR:Data provider error: ValueError: Transcript LRG_479t1 not found ERR:AlignmentMapper(tx_ac=LRG_479t1, alt_ac=LRG_479t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_479t1, alt_ac=LRG_479t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_479t1 not found +NM_001005407.2:c.483C>A NP_001005407.1:p.Phe161Leu NC_000016.10:1195502:C:A p.(Phe161Leu) NC_000016.10:1195502:C:A p.(Phe161Leu) NC_000016.10:1195502:C:A Identity +NM_000051.4:c.103C>T NP_000042.3:p.Arg35Ter NC_000011.10:108227805:C:T p.(Arg35Ter) NC_000011.10:108227805:C:T p.(Arg35Ter) NC_000011.10:108227805:C:T Identity +NM_020184.4:c.599C>A NP_064569.3:p.Ser200Tyr NC_000002.12:96761597:C:A p.(Ser200Tyr) NC_000002.12:96761597:C:A p.(Ser200Tyr) NC_000002.12:96761597:C:A Identity +NM_001386339.1:c.1459C>T NP_001373268.1:p.Arg487Ter NC_000011.10:9968481:G:A p.(Arg487Ter) NC_000011.10:9968481:G:A p.(Arg487Ter) NC_000011.10:9968481:G:A Identity +NM_030665.4:c.3801del NP_109590.3:p.Thr1268fs NC_000017.11:17796744:CCCCC:CCCC p.(Thr1268ProfsTer47) NC_000017.11:17796744:CCCCC:CCCC p.(Thr1268ProfsTer47) NC_000017.11:17796748:C: Analogous +NM_000383.4:c.789del NP_000374.1:p.Ala264fs NC_000021.9:44289792:C: p.(Ala264LeufsTer114) NC_000021.9:44289792:C: p.(Ala264LeufsTer114) NC_000021.9:44289792:C: Analogous +LRG_287t1:c.569G>A LRG_287p1:p.Arg190Gln NC_000011.10:2570718:G:A ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_000268.4:c.1579G>T NP_000259.1:p.Glu527Ter NC_000022.11:29681442:G:T p.(Glu527Ter) NC_000022.11:29681442:G:T p.(Glu527Ter) NC_000022.11:29681442:G:T Identity +NM_006445.4:c.6926A>G NP_006436.3:p.His2309Arg NC_000017.11:1650883:T:C p.(His2309Arg) NC_000017.11:1650883:T:C p.(His2309Arg) NC_000017.11:1650883:T:C Identity +LRG_434t2:c.1073A>C LRG_434p2:p.Gln358Pro NC_000009.12:105619961:A:C ERR:Data provider error: ValueError: Transcript LRG_434t2 not found ERR:Data provider error: ValueError: Transcript LRG_434t2 not found ERR:AlignmentMapper(tx_ac=LRG_434t2, alt_ac=LRG_434t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_434t2, alt_ac=LRG_434t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_434t2 not found +NM_013382.7:c.1445G>T NP_037514.2:p.Gly482Val NC_000014.9:77285519:C:A p.(Gly482Val) NC_000014.9:77285519:C:A p.(Gly482Val) NC_000014.9:77285519:C:A Identity +NM_024529.5:c.679_680insAG NP_078805.3:p.Arg227fs NC_000001.11:193142016::AG p.(Arg227LysfsTer31) NC_000001.11:193142015:A:AG p.(Arg227LysfsTer31) NC_000001.11:193142016:AG:AG Analogous +NM_000403.4:c.280G>A NP_000394.2:p.Val94Met NC_000001.11:23798187:C:T p.(Val94Met) NC_000001.11:23798187:C:T p.(Val94Met) NC_000001.11:23798187:C:T Identity +NM_000272.5:c.1027G>A NP_000263.2:p.Gly343Arg NC_000002.12:110163047:C:T p.(Gly343Arg) NC_000002.12:110163047:C:T p.(Gly343Arg) NC_000002.12:110163047:C:T Identity +NM_000372.5:c.1112A>C NP_000363.1:p.Asn371Thr NC_000011.10:89227897:A:C p.(Asn371Thr) NC_000011.10:89227897:A:C p.(Asn371Thr) NC_000011.10:89227897:A:C Identity +NM_000144.5:c.389G>T NP_000135.2:p.Gly130Val NC_000009.12:69064941:G:T p.(Gly130Val) NC_000009.12:69064941:G:T p.(Gly130Val) NC_000009.12:69064941:G:T Identity +NM_000403.4:c.937C>A NP_000394.2:p.Leu313Met NC_000001.11:23796201:G:T p.(Leu313Met) NC_000001.11:23796201:G:T p.(Leu313Met) NC_000001.11:23796201:G:T Identity +LRG_673t1:c.710C>T LRG_673p1:p.Ala237Val NC_000017.11:80107573:C:T ERR:Data provider error: ValueError: Transcript LRG_673t1 not found ERR:Data provider error: ValueError: Transcript LRG_673t1 not found ERR:AlignmentMapper(tx_ac=LRG_673t1, alt_ac=LRG_673t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_673t1, alt_ac=LRG_673t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_673t1 not found +NM_001040875.4:c.515G>A NP_001035808.1:p.Cys172Tyr NC_000008.11:74364008:G:A p.(Cys172Tyr) NC_000008.11:74364008:G:A p.(Cys172Tyr) NC_000008.11:74364008:G:A Identity +NM_001193300.2:c.1049T>G NP_001180229.1:p.Phe350Cys NC_000001.11:156163008:T:G p.(Phe350Cys) NC_000001.11:156163008:T:G p.(Phe350Cys) NC_000001.11:156163008:T:G Identity +NM_001195139.2:c.2122C>T NP_001182068.2:p.Arg708Trp NC_000016.10:70481396:G:A p.(Arg708Trp) NC_000016.10:70481396:G:A p.(Arg708Trp) NC_000016.10:70481396:G:A Identity +NM_000403.4:c.269G>A NP_000394.2:p.Gly90Glu NC_000001.11:23798198:C:T p.(Gly90Glu) NC_000001.11:23798198:C:T p.(Gly90Glu) NC_000001.11:23798198:C:T Identity +NM_007248.5:c.572T>A NP_009179.2:p.Val191Asp NC_000003.12:48467256:T:A p.(Val191Asp) NC_000003.12:48467256:T:A p.(Val191Asp) NC_000003.12:48467256:T:A Identity +NM_000438.6:c.139A>C NP_000429.2:p.Asn47His NC_000002.12:222297159:T:G p.(Asn47His) NC_000002.12:222297159:T:G p.(Asn47His) NC_000002.12:222297159:T:G Identity +NM_000520.6:c.1511G>A NP_000511.2:p.Arg504His NC_000015.10:72345460:C:T p.(Arg504His) NC_000015.10:72345460:C:T p.(Arg504His) NC_000015.10:72345460:C:T Identity +NM_001349896.1:c.412G>T NP_001336825.1:p.Glu138Ter NC_000022.11:26472390:C:A p.(Glu138Ter) NC_000022.11:26472390:C:A p.(Glu138Ter) NC_000022.11:26472390:C:A Identity +NM_001031681.3:c.124G>A NP_001026851.2:p.Val42Ile NC_000017.11:3647505:G:A p.(Val42Ile) NC_000017.11:3647505:G:A p.(Val42Ile) NC_000017.11:3647505:G:A Identity +NM_001377456.1:c.823C>T NP_001364385.1:p.Arg275Ter NC_000016.10:56502789:G:A p.(Arg275Ter) NC_000016.10:56502789:G:A p.(Arg275Ter) NC_000016.10:56502789:G:A Identity +NM_000277.3:c.818C>T NP_000268.1:p.Ser273Phe NC_000012.12:102852838:G:A p.(Ser273Phe) NC_000012.12:102852838:G:A p.(Ser273Phe) NC_000012.12:102852838:G:A Identity +NM_001109809.5:c.1372C>G NP_001103279.2:p.His458Asp NC_000006.12:29672738:G:C p.(His458Asp) NC_000006.12:29672738:G:C p.(His458Asp) NC_000006.12:29672738:G:C Identity +NM_000404.4:c.256_278dup NP_000395.3:p.Gln95fs NC_000003.12:33068937:GGCCAGGGCTCATGAAAGTTCCAGG:GGCCAGGGCTCATGAAAGTTCCAGGCCAGGGCTCATGAAAGTTCCAGG p.(Gln95ThrfsTer34) NC_000003.12:33068937:GGCCAGGGCTCATGAAAGTTCCAGG:GGCCAGGGCTCATGAAAGTTCCAGGCCAGGGCTCATGAAAGTTCCAGG p.(Gln95ThrfsTer34) ERR:SPDI Analogous +NM_000404.4:c.245C>T NP_000395.3:p.Thr82Met NC_000003.12:33072543:G:A p.(Thr82Met) NC_000003.12:33072543:G:A p.(Thr82Met) NC_000003.12:33072543:G:A Identity +NM_001363227.2:c.962T>G NP_001350156.1:p.Leu321Ter NC_000008.11:43178183:T:G p.(Leu321Ter) NC_000008.11:43178183:T:G p.(Leu321Ter) NC_000008.11:43178183:T:G Identity +NM_001142301.1:c.2218G>C NP_001135773.1:p.Gly740Arg NC_000008.11:93808860:G:C p.(Gly740Arg) NC_000008.11:93808860:G:C p.(Gly740Arg) NC_000008.11:93808860:G:C Identity +NM_030762.3:c.1151C>G NP_110389.1:p.Pro384Arg NC_000012.12:26122363:G:C p.(Pro384Arg) NC_000012.12:26122363:G:C p.(Pro384Arg) NC_000012.12:26122363:G:C Identity +NM_001324191.2:c.568C>T NP_001311120.1:p.Arg190Ter NC_000020.11:3916954:C:T p.(Arg190Ter) NC_000020.11:3916954:C:T p.(Arg190Ter) NC_000020.11:3916954:C:T Identity +NM_001163812.2:c.955A>G NP_001157284.1:p.Lys319Glu NC_000010.11:100989164:A:G p.(Lys319Glu) NC_000010.11:100989164:A:G p.(Lys319Glu) NC_000010.11:100989164:A:G Identity +NM_174916.3:c.1537C>T NP_777576.1:p.Gln513Ter NC_000015.10:43048393:G:A p.(Gln513Ter) NC_000015.10:43048393:G:A p.(Gln513Ter) NC_000015.10:43048393:G:A Identity +NM_001171653.2:c.2011C>T NP_001165124.1:p.Arg671Ter NC_000002.12:144399103:G:A p.(Arg671Ter) NC_000002.12:144399103:G:A p.(Arg671Ter) NC_000002.12:144399103:G:A Identity +NM_020427.3:c.286C>T NP_065160.1:p.Arg96Ter NC_000008.11:142741168:G:A p.(Arg96Ter) NC_000008.11:142741168:G:A p.(Arg96Ter) NC_000008.11:142741168:G:A Identity +NM_001163812.2:c.1422G>A NP_001157284.1:p.Trp474Ter NC_000010.11:100989821:G:A p.(Trp474Ter) NC_000010.11:100989821:G:A p.(Trp474Ter) NC_000010.11:100989821:G:A Identity +NM_000263.4:c.1694G>C NP_000254.2:p.Arg565Pro NC_000017.11:42543699:G:C p.(Arg565Pro) NC_000017.11:42543699:G:C p.(Arg565Pro) NC_000017.11:42543699:G:C Identity +NM_001017420.3:c.505C>T NP_001017420.1:p.Arg169Ter NC_000008.11:27776812:C:T p.(Arg169Ter) NC_000008.11:27776812:C:T p.(Arg169Ter) NC_000008.11:27776812:C:T Identity +NM_001315529.2:c.5413C>T NP_001302458.1:p.Arg1805Ter NC_000021.9:46411839:C:T p.(Arg1805Ter) NC_000021.9:46411839:C:T p.(Arg1805Ter) NC_000021.9:46411839:C:T Identity +LRG_17t1:c.415A>G LRG_17p1:p.Met139Val NC_000012.12:8605226:T:C ERR:Data provider error: ValueError: Transcript LRG_17t1 not found ERR:Data provider error: ValueError: Transcript LRG_17t1 not found ERR:AlignmentMapper(tx_ac=LRG_17t1, alt_ac=LRG_17t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_17t1, alt_ac=LRG_17t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_17t1 not found +NM_054027.6:c.13C>A NP_473368.1:p.Pro5Thr NC_000005.10:14871434:G:T p.(Pro5Thr) NC_000005.10:14871434:G:T p.(Pro5Thr) NC_000005.10:14871434:G:T Identity +NM_012130.4:c.254T>A NP_036262.1:p.Val85Asp NC_000021.9:36461441:A:T p.(Val85Asp) NC_000021.9:36461441:A:T p.(Val85Asp) NC_000021.9:36461441:A:T Identity +LRG_460t1:c.40C>T LRG_460p1:p.Gln14Ter NC_000011.10:67483197:C:T ERR:Data provider error: ValueError: Transcript LRG_460t1 not found ERR:Data provider error: ValueError: Transcript LRG_460t1 not found ERR:AlignmentMapper(tx_ac=LRG_460t1, alt_ac=LRG_460t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_460t1, alt_ac=LRG_460t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_460t1 not found +NM_022124.6:c.6133G>A NP_071407.4:p.Asp2045Asn NC_000010.11:71791214:G:A p.(Asp2045Asn) NC_000010.11:71791214:G:A p.(Asp2045Asn) NC_000010.11:71791214:G:A Identity +NM_004252.5:c.458G>A NP_004243.1:p.Arg153Gln NC_000017.11:74762027:G:A p.(Arg153Gln) NC_000017.11:74762027:G:A p.(Arg153Gln) NC_000017.11:74762027:G:A Identity +NM_020999.4:c.278G>T NP_066279.2:p.Arg93Leu NC_000010.11:69572765:C:A p.(Arg93Leu) NC_000010.11:69572765:C:A p.(Arg93Leu) NC_000010.11:69572765:C:A Identity +NM_001306090.2:c.1328G>A NP_001293019.1:p.Arg443Gln NC_000004.12:5753796:G:A p.(Arg443Gln) NC_000004.12:5753796:G:A p.(Arg443Gln) NC_000004.12:5753796:G:A Identity +NM_014249.4:c.166G>A NP_055064.1:p.Gly56Arg NC_000015.10:71811529:G:A p.(Gly56Arg) NC_000015.10:71811529:G:A p.(Gly56Arg) NC_000015.10:71811529:G:A Identity +NM_001363823.2:c.1681C>G NP_001350752.1:p.Arg561Gly NC_000002.12:32145003:C:G p.(Arg561Gly) NC_000002.12:32145003:C:G p.(Arg561Gly) NC_000002.12:32145003:C:G Identity +NM_001099400.2:c.835_839del NP_001092870.1:p.Thr279fs NC_000007.14:94600843:TTTGTTTT:TTT p.(Thr279AlafsTer17) NC_000007.14:94600843:TTTGTTTT:TTT p.(Thr279AlafsTer17) NC_000007.14:94600843:TTTGT: Analogous +NM_001289148.1:c.89T>C NP_001276077.1:p.Leu30Pro NC_000015.10:91022160:A:G p.(Leu30Pro) NC_000015.10:91022160:A:G p.(Leu30Pro) NC_000015.10:91022160:A:G Identity +NM_001127660.2:c.751C>G NP_001121132.1:p.Pro251Ala NC_000001.11:11999029:C:G p.(Pro251Ala) NC_000001.11:11999029:C:G p.(Pro251Ala) NC_000001.11:11999029:C:G Identity +NM_001351527.2:c.1166T>C NP_001338456.1:p.Leu389Ser NC_000009.12:132330431:A:G p.(Leu389Ser) NC_000009.12:132330431:A:G p.(Leu389Ser) NC_000009.12:132330431:A:G Identity +NM_001126335.2:c.782C>T NP_001119807.1:p.Pro261Leu NC_000019.10:32859931:G:A p.(Pro261Leu) NC_000019.10:32859931:G:A p.(Pro261Leu) NC_000019.10:32859931:G:A Identity +NM_000334.4:c.3478A>G NP_000325.4:p.Ile1160Val NC_000017.11:63945601:T:C p.(Ile1160Val) NC_000017.11:63945601:T:C p.(Ile1160Val) NC_000017.11:63945601:T:C Identity +NM_001164674.2:c.2T>G NP_001158146.1:p.Met1Arg NC_000003.12:4467243:A:C p.(Met1Arg) NC_000003.12:4467243:A:C p.Met1? NC_000003.12:4467243:A:C Identity +NM_001291969.2:c.68TCT[1] NP_001278898.1:p.Phe24del NC_000006.12:43583090:TCTTCT:TCT p.(Phe24del) NC_000006.12:43583090:T:TCT ERR:Parse ERR:Parse Identity +NM_001145770.3:c.739_745del NP_001139242.1:p.Gln247fs NC_000016.10:57654102:CCAGGACC:C p.(Gln247CysfsTer74) NC_000016.10:57654102:CCAGGACC:C p.(Gln247CysfsTer74) NC_000016.10:57654103:CAGGACC: Analogous +NM_152384.3:c.425T>A NP_689597.1:p.Leu142Ter NC_000002.12:169492911:T:A p.(Leu142Ter) NC_000002.12:169492911:T:A p.(Leu142Ter) NC_000002.12:169492911:T:A Identity +NM_001252020.2:c.3222T>A NP_001238949.1:p.Tyr1074Ter NC_000015.10:31028453:A:T p.(Tyr1074Ter) NC_000015.10:31028453:A:T p.(Tyr1074Ter) NC_000015.10:31028453:A:T Identity +NM_003907.3:c.944G>A NP_003898.2:p.Arg315His NC_000003.12:184140517:G:A p.(Arg315His) NC_000003.12:184140517:G:A p.(Arg315His) NC_000003.12:184140517:G:A Identity +NM_001319667.1:c.282del NP_001306596.1:p.Leu95fs NC_000001.11:169470108:AA:A p.(Leu95SerfsTer18) NC_000001.11:169470108:AA:A p.(Leu95SerfsTer18) NC_000001.11:169470108:A: Analogous +NM_001302961.2:c.173G>A NP_001289890.1:p.Trp58Ter NC_000019.10:50908595:C:T p.(Trp58Ter) NC_000019.10:50908595:C:T p.(Trp58Ter) NC_000019.10:50908595:C:T Identity +NM_001126105.3:c.1001T>G NP_001119577.1:p.Leu334Arg NC_000014.9:22775537:A:C p.(Leu334Arg) NC_000014.9:22775537:A:C p.(Leu334Arg) NC_000014.9:22775537:A:C Identity +NM_001128227.3:c.1820G>A NP_001121699.1:p.Gly607Glu NC_000009.12:36219926:C:T p.(Gly607Glu) NC_000009.12:36219926:C:T p.(Gly607Glu) NC_000009.12:36219926:C:T Identity +NM_001022.4:c.134_135inv NP_001013.1:p.Leu45Gln NC_000019.10:41861173:TT:AA p.(Leu45Gln) NC_000019.10:41861173:TT:AA p.(Leu45Gln) ERR:SPDI Identity +NM_001271769.2:c.1378C>T NP_001258698.1:p.Arg460Ter NC_000005.10:78141267:G:A p.(Arg460Ter) NC_000005.10:78141267:G:A p.(Arg460Ter) NC_000005.10:78141267:G:A Identity +NM_001130455.2:c.203_204delinsAT NP_001123927.1:p.Val68Asp NC_000002.12:71481933:TG:AT p.(Val68Asp) NC_000002.12:71481933:TG:AT p.(Val68Asp) NC_000002.12:71481933:TG:AT Identity +NM_030761.5:c.247C>T NP_110388.2:p.Arg83Trp NC_000001.11:22129681:G:A p.(Arg83Trp) NC_000001.11:22129681:G:A p.(Arg83Trp) NC_000001.11:22129681:G:A Identity +NM_001365536.1:c.446C>A NP_001352465.1:p.Pro149Gln NC_000002.12:166306530:G:T p.(Pro149Gln) NC_000002.12:166306530:G:T p.(Pro149Gln) NC_000002.12:166306530:G:T Identity +NM_001271769.2:c.757A>T NP_001258698.1:p.Arg253Ter NC_000005.10:78181544:T:A p.(Arg253Ter) NC_000005.10:78181544:T:A p.(Arg253Ter) NC_000005.10:78181544:T:A Identity +NM_001080463.2:c.3719T>C NP_001073932.1:p.Ile1240Thr NC_000011.10:103155475:T:C p.(Ile1240Thr) NC_000011.10:103155475:T:C p.(Ile1240Thr) NC_000011.10:103155475:T:C Identity +NM_005450.6:c.328C>T NP_005441.1:p.Gln110Ter NC_000017.11:56594550:C:T p.(Gln110Ter) NC_000017.11:56594550:C:T p.(Gln110Ter) NC_000017.11:56594550:C:T Identity +NM_001001502.3:c.368C>A NP_001001502.1:p.Pro123His NC_000005.10:176621217:G:T p.(Pro123His) NC_000005.10:176621217:G:T p.(Pro123His) NC_000005.10:176621217:G:T Identity +NM_000369.5:c.1897G>C NP_000360.2:p.Asp633His NC_000014.9:81143954:G:C p.(Asp633His) NC_000014.9:81143954:G:C p.(Asp633His) NC_000014.9:81143954:G:C Identity +NM_001369.3:c.1828C>T NP_001360.1:p.Gln610Ter NC_000005.10:13901475:G:A p.(Gln610Ter) NC_000005.10:13901475:G:A p.(Gln610Ter) NC_000005.10:13901475:G:A Identity +NM_001130455.2:c.2782del NP_001123927.1:p.Ala928fs NC_000002.12:71568304:GGG:GG p.(Ala928LeufsTer21) NC_000002.12:71568304:GGG:GG p.(Ala928LeufsTer21) NC_000002.12:71568306:G: Analogous +NM_004646.4:c.3478C>T NP_004637.1:p.Arg1160Ter NC_000019.10:35831055:G:A p.(Arg1160Ter) NC_000019.10:35831055:G:A p.(Arg1160Ter) NC_000019.10:35831055:G:A Identity +NM_001164277.2:c.1063G>T NP_001157749.1:p.Glu355Ter NC_000011.10:119025250:C:A p.(Glu355Ter) NC_000011.10:119025250:C:A p.(Glu355Ter) NC_000011.10:119025250:C:A Identity +NM_004637.6:c.385C>T NP_004628.4:p.Leu129Phe NC_000003.12:128806575:C:T p.(Leu129Phe) NC_000003.12:128806575:C:T p.(Leu129Phe) NC_000003.12:128806575:C:T Identity +NM_002408.4:c.869C>T NP_002399.1:p.Ser290Phe NC_000014.9:49622136:C:T p.(Ser290Phe) NC_000014.9:49622136:C:T p.(Ser290Phe) NC_000014.9:49622136:C:T Identity +NM_002700.3:c.882_889del NP_002691.1:p.Ile295fs NC_000005.10:146340306:GCTATCCAGC:GC p.(Ile295ThrfsTer5) NC_000005.10:146340306:GCTATCCAGC:GC p.(Ile295ThrfsTer5) NC_000005.10:146340308:TATCCAGC: Analogous +NM_001008211.1:c.148G>A NP_001008212.1:p.Glu50Lys NC_000010.11:13109269:G:A p.(Glu50Lys) NC_000010.11:13109269:G:A p.(Glu50Lys) NC_000010.11:13109269:G:A Identity +NM_000492.4:c.1675G>A NP_000483.3:p.Ala559Thr NC_000007.14:117587828:G:A p.(Ala559Thr) NC_000007.14:117587828:G:A p.(Ala559Thr) NC_000007.14:117587828:G:A Identity +NM_000492.4:c.1040G>A NP_000483.3:p.Arg347His NC_000007.14:117540269:G:A p.(Arg347His) NC_000007.14:117540269:G:A p.(Arg347His) NC_000007.14:117540269:G:A Identity +NM_000492.4:c.171G>A NP_000483.3:p.Trp57Ter NC_000007.14:117509039:G:A p.(Trp57Ter) NC_000007.14:117509039:G:A p.(Trp57Ter) NC_000007.14:117509039:G:A Identity +NM_002496.4:c.236C>T NP_002487.1:p.Pro79Leu NC_000011.10:68033146:C:T p.(Pro79Leu) NC_000011.10:68033146:C:T p.(Pro79Leu) NC_000011.10:68033146:C:T Identity +NM_002381.5:c.656C>A NP_002372.1:p.Ala219Asp NC_000002.12:20005877:G:T p.(Ala219Asp) NC_000002.12:20005877:G:T p.(Ala219Asp) NC_000002.12:20005877:G:T Identity +NM_001083962.2:c.1733G>C NP_001077431.1:p.Arg578Pro NC_000018.10:55228992:C:G p.(Arg578Pro) NC_000018.10:55228992:C:G p.(Arg578Pro) NC_000018.10:55228992:C:G Identity +NM_000455.5:c.936del NP_000446.1:p.Lys312fs NC_000019.10:1222997:AAA:AA p.(Lys312AsnfsTer24) NC_000019.10:1222997:AAA:AA p.(Lys312AsnfsTer24) NC_000019.10:1222999:A: Analogous +LRG_1334t2:c.1337C>T LRG_1334p2:p.Pro446Leu NC_000004.12:2831581:C:T ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found ERR:AlignmentMapper(tx_ac=LRG_1334t2, alt_ac=LRG_1334t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1334t2, alt_ac=LRG_1334t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found +NM_001318204.2:c.355C>T NP_001305133.1:p.Arg119Ter NC_000009.12:91757379:G:A p.(Arg119Ter) NC_000009.12:91757379:G:A p.(Arg119Ter) NC_000009.12:91757379:G:A Identity +NM_000474.4:c.376G>T NP_000465.1:p.Glu126Ter NC_000007.14:19116945:C:A p.(Glu126Ter) NC_000007.14:19116945:C:A p.(Glu126Ter) NC_000007.14:19116945:C:A Identity +NM_001172425.3:c.923G>A NP_001165896.1:p.Ser308Asn NC_000001.11:225937516:C:T p.(Ser308Asn) NC_000001.11:225937516:C:T p.(Ser308Asn) NC_000001.11:225937516:C:T Identity +NM_004482.4:c.484C>T NP_004473.2:p.Arg162Ter NC_000002.12:165770216:G:A p.(Arg162Ter) NC_000002.12:165770216:G:A p.(Arg162Ter) NC_000002.12:165770216:G:A Identity +NM_004482.4:c.815C>A NP_004473.2:p.Thr272Lys NC_000002.12:165761927:G:T p.(Thr272Lys) NC_000002.12:165761927:G:T p.(Thr272Lys) NC_000002.12:165761927:G:T Identity +NM_000314.8:c.696del NP_000305.3:p.Arg233fs NC_000010.11:87957913:A: p.(Arg233AspfsTer23) NC_000010.11:87957913:A: p.(Arg233AspfsTer23) NC_000010.11:87957913:A: Analogous +NM_000314.8:c.180del NP_000305.3:p.Lys60fs NC_000010.11:87925527:G: p.(Lys60AsnfsTer39) NC_000010.11:87925527:G: p.(Lys60AsnfsTer39) NC_000010.11:87925527:G: Analogous +NM_000303.3:c.647A>T NP_000294.1:p.Asn216Ile NC_000016.10:8847730:A:T p.(Asn216Ile) NC_000016.10:8847730:A:T p.(Asn216Ile) NC_000016.10:8847730:A:T Identity +NM_001377273.1:c.4537G>A NP_001364202.1:p.Ala1513Thr NC_000012.12:21801156:C:T p.(Ala1513Thr) NC_000012.12:21801156:C:T p.(Ala1513Thr) NC_000012.12:21801156:C:T Identity +LRG_1226t1:c.1954T>C LRG_1226p1:p.Phe652Leu NC_000002.12:74461834:A:G ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_003221.4:c.706C>A NP_003212.2:p.Arg236Ser NC_000006.12:50836164:C:A p.(Arg236Ser) NC_000006.12:50836164:C:A p.(Arg236Ser) NC_000006.12:50836164:C:A Identity +NM_000430.4:c.505T>C NP_000421.1:p.Ser169Pro NC_000017.11:2670267:T:C p.(Ser169Pro) NC_000017.11:2670267:T:C p.(Ser169Pro) NC_000017.11:2670267:T:C Identity +NM_000557.5:c.901C>T NP_000548.2:p.Arg301Ter NC_000020.11:35434513:G:A p.(Arg301Ter) NC_000020.11:35434513:G:A p.(Arg301Ter) NC_000020.11:35434513:G:A Identity +NM_000068.4:c.4997G>A NP_000059.3:p.Arg1666His NC_000019.10:13235701:C:T p.(Arg1666His) NC_000019.10:13235701:C:T p.(Arg1666His) NC_000019.10:13235701:C:T Identity +NM_005570.4:c.2T>C NP_005561.1:p.Met1Thr NC_000018.10:59359242:A:G p.(Met1Thr) NC_000018.10:59359242:A:G p.Met1? NC_000018.10:59359242:A:G Identity +NM_000325.6:c.409C>T NP_000316.2:p.Arg137Trp NC_000004.12:110621165:G:A p.(Arg137Trp) NC_000004.12:110621165:G:A p.(Arg137Trp) NC_000004.12:110621165:G:A Identity +NM_005631.5:c.1685G>A NP_005622.1:p.Arg562Gln NC_000007.14:129210996:G:A p.(Arg562Gln) NC_000007.14:129210996:G:A p.(Arg562Gln) NC_000007.14:129210996:G:A Identity +NM_004329.3:c.370T>C NP_004320.2:p.Cys124Arg NC_000010.11:86899829:T:C p.(Cys124Arg) NC_000010.11:86899829:T:C p.(Cys124Arg) NC_000010.11:86899829:T:C Identity +NM_001088.3:c.385G>A NP_001079.1:p.Ala129Thr NC_000017.11:76469730:G:A p.(Ala129Thr) NC_000017.11:76469730:G:A p.(Ala129Thr) NC_000017.11:76469730:G:A Identity +NM_000309.5:c.1046A>C NP_000300.1:p.Asp349Ala NC_000001.11:161170466:A:C p.(Asp349Ala) NC_000001.11:161170466:A:C p.(Asp349Ala) NC_000001.11:161170466:A:C Identity +LRG_440t1:c.206A>G LRG_440p1:p.Lys69Arg NC_000011.10:19188210:T:C ERR:Data provider error: ValueError: Transcript LRG_440t1 not found ERR:Data provider error: ValueError: Transcript LRG_440t1 not found ERR:AlignmentMapper(tx_ac=LRG_440t1, alt_ac=LRG_440t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_440t1, alt_ac=LRG_440t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_440t1 not found +NM_001363688.1:c.436C>T NP_001350617.1:p.Gln146Ter NC_000014.9:74480706:G:A p.(Gln146Ter) NC_000014.9:74480706:G:A p.(Gln146Ter) NC_000014.9:74480706:G:A Identity +NM_000068.4:c.5443A>C NP_000059.3:p.Ile1815Leu NC_000019.10:13230184:T:G p.(Ile1815Leu) NC_000019.10:13230184:T:G p.(Ile1815Leu) NC_000019.10:13230184:T:G Identity +NM_001001557.4:c.1271A>G NP_001001557.1:p.Lys424Arg NC_000008.11:96144659:T:C p.(Lys424Arg) NC_000008.11:96144659:T:C p.(Lys424Arg) NC_000008.11:96144659:T:C Identity +NM_000068.4:c.5281G>A NP_000059.3:p.Glu1761Lys NC_000019.10:13231846:C:T p.(Glu1761Lys) NC_000019.10:13231846:C:T p.(Glu1761Lys) NC_000019.10:13231846:C:T Identity +NM_000068.4:c.4854del NP_000059.3:p.Val1620fs NC_000019.10:13253014:C: p.(Val1620SerfsTer7) NC_000019.10:13253014:C: p.(Val1620SerfsTer7) NC_000019.10:13253014:C: Analogous +NM_000447.3:c.1316A>C NP_000438.2:p.Asp439Ala NC_000001.11:226895547:A:C p.(Asp439Ala) NC_000001.11:226895547:A:C p.(Asp439Ala) NC_000001.11:226895547:A:C Identity +NM_001166496.2:c.610A>G NP_001159968.1:p.Lys204Glu NC_000001.11:112917795:T:C p.(Lys204Glu) NC_000001.11:112917795:T:C p.(Lys204Glu) NC_000001.11:112917795:T:C Identity +NM_001079668.3:c.613G>T NP_001073136.1:p.Glu205Ter NC_000014.9:36517870:C:A p.(Glu205Ter) NC_000014.9:36517870:C:A p.(Glu205Ter) NC_000014.9:36517870:C:A Identity +NM_006563.5:c.954dup NP_006554.1:p.Arg319fs NC_000019.10:12885019:CC:CCC p.(Arg319GlufsTer34) NC_000019.10:12885019:CC:CCC p.(Arg319GlufsTer34) ERR:SPDI Analogous +NM_001384880.1:c.1329G>T NP_001371809.1:p.Gln443His NC_000002.12:190983698:C:A p.(Gln443His) NC_000002.12:190983698:C:A p.(Gln443His) NC_000002.12:190983698:C:A Identity +NM_000163.5:c.341T>C NP_000154.1:p.Phe114Ser NC_000005.10:42694990:T:C p.(Phe114Ser) NC_000005.10:42694990:T:C p.(Phe114Ser) NC_000005.10:42694990:T:C Identity +NM_005262.3:c.581G>A NP_005253.3:p.Arg194His NC_000016.10:1985990:G:A p.(Arg194His) NC_000016.10:1985990:G:A p.(Arg194His) NC_000016.10:1985990:G:A Identity +NM_002181.4:c.391G>A NP_002172.2:p.Glu131Lys NC_000002.12:219057618:C:T p.(Glu131Lys) NC_000002.12:219057618:C:T p.(Glu131Lys) NC_000002.12:219057618:C:T Identity +NM_000310.4:c.236A>G NP_000301.1:p.Asp79Gly NC_000001.11:40092170:T:C p.(Asp79Gly) NC_000001.11:40092170:T:C p.(Asp79Gly) NC_000001.11:40092170:T:C Identity +NM_000098.3:c.1148T>A NP_000089.1:p.Phe383Tyr NC_000001.11:53210821:T:A p.(Phe383Tyr) NC_000001.11:53210821:T:A p.(Phe383Tyr) NC_000001.11:53210821:T:A Identity +NM_001374747.1:c.683G>A NP_001361676.1:p.Arg228Gln NC_000006.12:10529593:G:A p.(Arg228Gln) NC_000006.12:10529593:G:A p.(Arg228Gln) NC_000006.12:10529593:G:A Identity +NM_001113347.2:c.2224C>T NP_001106818.1:p.Arg742Cys NC_000001.11:21220007:G:A p.(Arg742Cys) NC_000001.11:21220007:G:A p.(Arg742Cys) NC_000001.11:21220007:G:A Identity +NM_001252678.2:c.575C>A NP_001239607.1:p.Ala192Glu NC_000015.10:72735166:C:A p.(Ala192Glu) NC_000015.10:72735166:C:A p.(Ala192Glu) NC_000015.10:72735166:C:A Identity +NM_000344.4:c.821C>T NP_000335.1:p.Thr274Ile NC_000005.10:70946162:C:T p.(Thr274Ile) NC_000005.10:70946162:C:T p.(Thr274Ile) NC_000005.10:70946162:C:T Identity +NM_001015051.4:c.1313dup NP_001015051.3:p.Asp441fs NC_000006.12:45547116:CC:CCC p.(Asp441ArgfsTer27) NC_000006.12:45547116:CC:CCC p.(Asp441ArgfsTer27) ERR:SPDI Analogous +NM_002855.5:c.556del NP_002846.3:p.Glu186fs NC_000011.10:119677731:CCC:CC p.(Glu186LysfsTer4) NC_000011.10:119677731:CCC:CC p.(Glu186LysfsTer4) NC_000011.10:119677731:C: Analogous +NM_000349.3:c.545G>A NP_000340.2:p.Arg182His NC_000008.11:38146067:C:T p.(Arg182His) NC_000008.11:38146067:C:T p.(Arg182His) NC_000008.11:38146067:C:T Identity +NM_000095.3:c.1403G>A NP_000086.2:p.Cys468Tyr NC_000019.10:18786050:C:T p.(Cys468Tyr) NC_000019.10:18786050:C:T p.(Cys468Tyr) NC_000019.10:18786050:C:T Identity +NM_000457.6:c.487C>T NP_000448.3:p.Arg163Ter NC_000020.11:44413794:C:T p.(Arg163Ter) NC_000020.11:44413794:C:T p.(Arg163Ter) NC_000020.11:44413794:C:T Identity +NM_000435.3:c.213G>T NP_000426.2:p.Trp71Cys NC_000019.10:15192503:C:A p.(Trp71Cys) NC_000019.10:15192503:C:A p.(Trp71Cys) NC_000019.10:15192503:C:A Identity +NM_000215.4:c.1695C>A NP_000206.2:p.Cys565Ter NC_000019.10:17837937:G:T p.(Cys565Ter) NC_000019.10:17837937:G:T p.(Cys565Ter) NC_000019.10:17837937:G:T Identity +NM_000335.5:c.2989G>T NP_000326.2:p.Ala997Ser NC_000003.12:38581169:C:A p.(Ala997Ser) NC_000003.12:38581169:C:A p.(Ala997Ser) NC_000003.12:38581169:C:A Identity +NM_001166175.2:c.215_221del NP_001159647.1:p.Glu72fs NC_000005.10:173234862:CCCAGCTC:C p.(Glu72AlafsTer91) NC_000005.10:173234862:CCCAGCTC:C p.(Glu72AlafsTer91) NC_000005.10:173234862:CCCAGCT: Analogous +NM_000220.6:c.372T>A NP_000211.1:p.Asn124Lys NC_000011.10:128839928:A:T p.(Asn124Lys) NC_000011.10:128839928:A:T p.(Asn124Lys) NC_000011.10:128839928:A:T Identity +NM_000535.7:c.2404C>T NP_000526.2:p.Arg802Ter NC_000007.14:5977628:G:A p.(Arg802Ter) NC_000007.14:5977628:G:A p.(Arg802Ter) NC_000007.14:5977628:G:A Identity +NM_000535.7:c.1731_1732delinsAGT NP_000526.2:p.Arg578fs NC_000007.14:5987032:GC:ACT p.(Arg578SerfsTer3) NC_000007.14:5987031:CGC:CACT p.(Arg578ValfsTer3) NC_000007.14:5987032:GC:ACT Analogous +NM_002764.4:c.344T>C NP_002755.1:p.Met115Thr NC_000023.11:107640938:T:C p.(Met115Thr) NC_000023.11:107640938:T:C p.(Met115Thr) NC_000023.11:107640938:T:C Identity +NM_001122606.1:c.961T>C NP_001116078.1:p.Trp321Arg NC_000023.11:120441861:A:G p.(Trp321Arg) NC_000023.11:120441861:A:G p.(Trp321Arg) NC_000023.11:120441861:A:G Identity +NM_000194.3:c.57dup NP_000185.1:p.Asp20Ter NC_000023.11:134473386:TT:TTT p.(Asp20Ter) NC_000023.11:134473386:TT:TTT p.(Asp20Ter) ERR:SPDI Identity +NM_000132.4:c.5183A>G NP_000123.1:p.Tyr1728Cys NC_000023.11:154928606:T:C p.(Tyr1728Cys) NC_000023.11:154928606:T:C p.(Tyr1728Cys) NC_000023.11:154928606:T:C Identity +NM_005502.4:c.3343_3344del NP_005493.2:p.Ser1115fs NC_000009.12:104818780:GAG:G p.(Ser1115ProfsTer31) NC_000009.12:104818780:GAG:G p.(Ser1115ProfsTer31) NC_000009.12:104818780:GA: Analogous +NM_005502.4:c.6026T>C NP_005493.2:p.Phe2009Ser NC_000009.12:104788468:A:G p.(Phe2009Ser) NC_000009.12:104788468:A:G p.(Phe2009Ser) NC_000009.12:104788468:A:G Identity +NM_000354.6:c.571G>A NP_000345.2:p.Asp191Asn NC_000023.11:106036487:C:T p.(Asp191Asn) NC_000023.11:106036487:C:T p.(Asp191Asn) NC_000023.11:106036487:C:T Identity +NM_005502.4:c.1790A>G NP_005493.2:p.Gln597Arg NC_000009.12:104831026:T:C p.(Gln597Arg) NC_000009.12:104831026:T:C p.(Gln597Arg) NC_000009.12:104831026:T:C Identity +NM_000202.8:c.1403G>T NP_000193.1:p.Arg468Leu NC_000023.11:149482995:C:A p.(Arg468Leu) NC_000023.11:149482995:C:A p.(Arg468Leu) NC_000023.11:149482995:C:A Identity +NM_002764.4:c.341A>G NP_002755.1:p.Asn114Ser NC_000023.11:107640935:A:G p.(Asn114Ser) NC_000023.11:107640935:A:G p.(Asn114Ser) NC_000023.11:107640935:A:G Identity +NM_002641.4:c.249_250insGT NP_002632.1:p.Thr84fs NC_000023.11:15331681::AC p.(Thr84ValfsTer12) NC_000023.11:15331680:T:AC p.(Thr84ValfsTer12) NC_000023.11:15331681:TG:AC Analogous +NM_000132.4:c.5325G>C NP_000123.1:p.Leu1775Phe NC_000023.11:154906467:C:G p.(Leu1775Phe) NC_000023.11:154906467:C:G p.(Leu1775Phe) NC_000023.11:154906467:C:G Identity +NM_000132.4:c.1175C>T NP_000123.1:p.Ser392Leu NC_000023.11:154966521:G:A p.(Ser392Leu) NC_000023.11:154966521:G:A p.(Ser392Leu) NC_000023.11:154966521:G:A Identity +NM_000132.4:c.1804C>T NP_000123.1:p.Arg602Ter NC_000023.11:154953990:G:A p.(Arg602Ter) NC_000023.11:154953990:G:A p.(Arg602Ter) NC_000023.11:154953990:G:A Identity +NM_001005609.2:c.626C>T NP_001005609.1:p.Pro209Leu NC_000023.11:70027955:C:T p.(Pro209Leu) NC_000023.11:70027955:C:T p.(Pro209Leu) NC_000023.11:70027955:C:T Identity +NM_000133.4:c.138G>Y NP_000124.1:p.Arg46Ser NC_000023.11:139537058:G:Y "ERR:Parse error: --> 1:20 + | +1 | NM_000133.4:c.138G>Y + | ^--- + | + = expected dna" "ERR:Parse error: --> 1:20 + | +1 | NM_000133.4:c.138G>Y + | ^--- + | + = expected dna" p.(Arg46Ser) NC_000023.11:139537058:G:Y "ERR:Parse error: --> 1:20 + | +1 | NM_000133.4:c.138G>Y + | ^--- + | + = expected dna" +LRG_1163t1:c.514G>A LRG_1163p1:p.Ala172Thr NC_000023.11:55021175:C:T ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found +NM_000133.4:c.1231A>G NP_000124.1:p.Ser411Gly NC_000023.11:139561915:A:G p.(Ser411Gly) NC_000023.11:139561915:A:G p.(Ser411Gly) NC_000023.11:139561915:A:G Identity +NM_000109.4:c.150_151del NP_000100.3:p.Gly51fs NC_000023.11:32849738:CT: p.(Gly51AlafsTer29) NC_000023.11:32849738:CT: p.(Gly51AlafsTer29) NC_000023.11:32849738:CT: Analogous +NM_000109.4:c.8689C>T NP_000100.3:p.Arg2897Ter NC_000023.11:31478329:G:A p.(Arg2897Ter) NC_000023.11:31478329:G:A p.(Arg2897Ter) NC_000023.11:31478329:G:A Identity +NM_001109878.2:c.790A>T NP_001103348.1:p.Asn264Tyr NC_000023.11:80026859:A:T p.(Asn264Tyr) NC_000023.11:80026859:A:T p.(Asn264Tyr) NC_000023.11:80026859:A:T Identity +NM_000061.3:c.1889T>A NP_000052.1:p.Met630Lys NC_000023.11:101353212:A:T p.(Met630Lys) NC_000023.11:101353212:A:T p.(Met630Lys) NC_000023.11:101353212:A:T Identity +NM_000475.5:c.1183C>T NP_000466.2:p.Gln395Ter NC_000023.11:30304808:G:A p.(Gln395Ter) NC_000023.11:30304808:G:A p.(Gln395Ter) NC_000023.11:30304808:G:A Identity +NM_001378477.3:c.90C>A NP_001365406.2:p.Cys30Ter NC_000023.11:41473557:C:A p.(Cys30Ter) NC_000023.11:41473557:C:A p.(Cys30Ter) NC_000023.11:41473557:C:A Identity +NM_001099856.6:c.721C>G NP_001093326.2:p.Arg241Gly NC_000023.11:154558648:C:G p.(Arg241Gly) NC_000023.11:154558648:C:G p.(Arg241Gly) NC_000023.11:154558648:C:G Identity +NM_006579.3:c.386G>A NP_006570.1:p.Trp129Ter NC_000023.11:48527201:G:A p.(Trp129Ter) NC_000023.11:48527201:G:A p.(Trp129Ter) NC_000023.11:48527201:G:A Identity +NM_000555.3:c.277_278dup NP_000546.2:p.Asp93fs NC_000023.11:111410363:TCTCT:TCTCTCT p.(Asp93GlufsTer13) NC_000023.11:111410363:TCTCT:TCTCTCT p.(Asp93GlufsTer13) ERR:SPDI Analogous +NM_001122608.3:c.589C>T NP_001116080.1:p.Arg197Ter NC_000023.11:11120973:C:T p.(Arg197Ter) NC_000023.11:11120973:C:T p.(Arg197Ter) NC_000023.11:11120973:C:T Identity +NM_001142805.2:c.1443C>G NP_001136277.1:p.Cys481Trp NC_000023.11:153694423:C:G p.(Cys481Trp) NC_000023.11:153694423:C:G p.(Cys481Trp) NC_000023.11:153694423:C:G Identity +NM_001330495.2:c.101G>C NP_001317424.1:p.Gly34Ala NC_000023.11:63724556:C:G p.(Gly34Ala) NC_000023.11:63724556:C:G p.(Gly34Ala) NC_000023.11:63724556:C:G Identity +NM_139058.3:c.995G>A NP_620689.1:p.Arg332His NC_000023.11:25012999:C:T p.(Arg332His) NC_000023.11:25012999:C:T p.(Arg332His) NC_000023.11:25012999:C:T Identity +NM_000109.4:c.7053_7054delinsT NP_000100.3:p.Gln2351fs NC_000023.11:31875207:CT:A p.(Glu2352Ter) NC_000023.11:31875206:TCT:TA p.(Gln2351HisfsTer12) NC_000023.11:31875207:CT:A Analogous +NM_000109.4:c.174dup NP_000100.3:p.Gly59fs NC_000023.11:32844848:TTTTT:TTTTTT p.(Gly59ArgfsTer22) NC_000023.11:32844848:TTTTT:TTTTTT p.(Gly59ArgfsTer22) ERR:SPDI Analogous +NM_000109.4:c.5875C>T NP_000100.3:p.Arg1959Ter NC_000023.11:32342122:G:A p.(Arg1959Ter) NC_000023.11:32342122:G:A p.(Arg1959Ter) NC_000023.11:32342122:G:A Identity +NM_001142.2:c.431del NP_001133.1:p.Pro144fs NC_000023.11:11298832:CC:C p.(Pro144HisfsTer31) NC_000023.11:11298832:CC:C p.(Pro144HisfsTer31) NC_000023.11:11298833:C: Analogous +NM_000489.6:c.4840T>C NP_000480.3:p.Cys1614Arg NC_000023.11:77633681:A:G p.(Cys1614Arg) NC_000023.11:77633681:A:G p.(Cys1614Arg) NC_000023.11:77633681:A:G Identity +NM_001061.7:c.1235G>A NP_001052.3:p.Arg412Gln NC_000007.14:140015730:G:A p.(Arg412Gln) NC_000007.14:140015730:G:A p.(Arg412Gln) NC_000007.14:140015730:G:A Identity +NM_000151.4:c.551G>A NP_000142.2:p.Gly184Glu NC_000017.11:42909406:G:A p.(Gly184Glu) NC_000017.11:42909406:G:A p.(Gly184Glu) NC_000017.11:42909406:G:A Identity +NM_000033.4:c.-16_10del NP_000024.2:p.Met1fs NC_000023.11:153725248:GCAGCCAGCCCAGGTGACATGCCGGTGC:GC p.(Met1LeufsTer185) NC_000023.11:153725248:GCAGCCAGCCCAGGTGACATGCCGGTGC:GC p.Met1? NC_000023.11:153725250:AGCCAGCCCAGGTGACATGCCGGTGC: Analogous +NM_023010.4:c.828_829del NP_075386.1:p.Gly277fs NC_000023.11:119838505:CT: p.(Gly277ArgfsTer2) NC_000023.11:119838505:CT: p.(Gly277ArgfsTer2) NC_000023.11:119838505:CT: Analogous +NM_000500.9:c.874G>A NP_000491.4:p.Gly292Ser NC_000006.12:32040139:G:A p.(Gly292Ser) NC_000006.12:32040139:G:A p.(Gly292Ser) NC_000006.12:32040139:G:A Identity +LRG_715t1:c.143G>T LRG_715p1:p.Gly48Val NC_000020.11:3083155:C:A ERR:Data provider error: ValueError: Transcript LRG_715t1 not found ERR:Data provider error: ValueError: Transcript LRG_715t1 not found ERR:AlignmentMapper(tx_ac=LRG_715t1, alt_ac=LRG_715t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_715t1, alt_ac=LRG_715t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_715t1 not found +NM_000555.3:c.419G>T NP_000546.2:p.Arg140Leu NC_000023.11:111410222:C:A p.(Arg140Leu) NC_000023.11:111410222:C:A p.(Arg140Leu) NC_000023.11:111410222:C:A Identity +NM_004586.3:c.2186G>A NP_004577.1:p.Arg729Gln NC_000023.11:20155434:C:T p.(Arg729Gln) NC_000023.11:20155434:C:T p.(Arg729Gln) NC_000023.11:20155434:C:T Identity +NM_000489.6:c.6250T>C NP_000480.3:p.Tyr2084His NC_000023.11:77574325:A:G p.(Tyr2084His) NC_000023.11:77574325:A:G p.(Tyr2084His) NC_000023.11:77574325:A:G Identity +NM_000489.6:c.751A>G NP_000480.3:p.Lys251Glu NC_000023.11:77684504:T:C p.(Lys251Glu) NC_000023.11:77684504:T:C p.(Lys251Glu) NC_000023.11:77684504:T:C Identity +NM_001110556.2:c.2132T>A NP_001104026.1:p.Val711Asp NC_000023.11:154364262:A:T p.(Val711Asp) NC_000023.11:154364262:A:T p.(Val711Asp) NC_000023.11:154364262:A:T Identity +NM_001204466.2:c.1662dup NP_001191395.1:p.Pro555fs NC_000023.11:47182268:A:AA p.(Pro555ThrfsTer41) NC_000023.11:47182268:A:AA p.(Pro555ThrfsTer41) ERR:SPDI Analogous +NM_001142805.2:c.1011C>G NP_001136277.1:p.Cys337Trp NC_000023.11:153693360:C:G p.(Cys337Trp) NC_000023.11:153693360:C:G p.(Cys337Trp) NC_000023.11:153693360:C:G Identity +NM_001110556.2:c.607G>T NP_001104026.1:p.Asp203Tyr NC_000023.11:154367856:C:A p.(Asp203Tyr) NC_000023.11:154367856:C:A p.(Asp203Tyr) NC_000023.11:154367856:C:A Identity +NM_001065.4:c.350G>A NP_001056.1:p.Cys117Tyr NC_000012.12:6333488:C:T p.(Cys117Tyr) NC_000012.12:6333488:C:T p.(Cys117Tyr) NC_000012.12:6333488:C:T Identity +NM_000546.6:c.770T>A NP_000537.3:p.Leu257Gln NC_000017.11:7674192:A:T p.(Leu257Gln) NC_000017.11:7674192:A:T p.(Leu257Gln) NC_000017.11:7674192:A:T Identity +NM_000548.5:c.1322G>A NP_000539.2:p.Trp441Ter NC_000016.10:2062560:G:A p.(Trp441Ter) NC_000016.10:2062560:G:A p.(Trp441Ter) NC_000016.10:2062560:G:A Identity +NM_001110792.2:c.334C>G NP_001104262.1:p.Leu112Val NC_000023.11:154032285:G:C p.(Leu112Val) NC_000023.11:154032285:G:C p.(Leu112Val) NC_000023.11:154032285:G:C Identity +NM_000260.4:c.634C>T NP_000251.3:p.Arg212Cys NC_000011.10:77156902:C:T p.(Arg212Cys) NC_000011.10:77156902:C:T p.(Arg212Cys) NC_000011.10:77156902:C:T Identity +LRG_156t1:c.494C>T LRG_156p1:p.Pro165Leu NC_000012.12:109581516:C:T ERR:Data provider error: ValueError: Transcript LRG_156t1 not found ERR:Data provider error: ValueError: Transcript LRG_156t1 not found ERR:AlignmentMapper(tx_ac=LRG_156t1, alt_ac=LRG_156t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_156t1, alt_ac=LRG_156t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_156t1 not found +NM_000587.4:c.2184T>A NP_000578.2:p.Cys728Ter NC_000005.10:40979742:T:A p.(Cys728Ter) NC_000005.10:40979742:T:A p.(Cys728Ter) NC_000005.10:40979742:T:A Identity +NM_000170.3:c.2281G>C NP_000161.2:p.Gly761Arg NC_000009.12:6554702:C:G p.(Gly761Arg) NC_000009.12:6554702:C:G p.(Gly761Arg) NC_000009.12:6554702:C:G Identity +NM_000136.3:c.1487T>G NP_000127.2:p.Leu496Arg NC_000009.12:95107111:A:C p.(Leu496Arg) NC_000009.12:95107111:A:C p.(Leu496Arg) NC_000009.12:95107111:A:C Identity +NM_003126.4:c.2373C>A NP_003117.2:p.Asp791Glu NC_000001.11:158662792:G:T p.(Asp791Glu) NC_000001.11:158662792:G:T p.(Asp791Glu) NC_000001.11:158662792:G:T Identity +NM_000490.5:c.3del NP_000481.2:p.Met1fs NC_000020.11:3084671:C: p.(Met1IlefsTer38) NC_000020.11:3084671:C: p.Met1? NC_000020.11:3084671:C: Analogous +NM_001018056.3:c.2255del NP_001018066.1:p.Ile752fs NC_000009.12:2651876:T: p.(Ile752ThrfsTer3) NC_000009.12:2651876:T: p.(Ile752ThrfsTer3) NC_000009.12:2651876:T: Analogous +NM_001130442.3:c.437C>T NP_001123914.1:p.Ala146Val NC_000011.10:533465:G:A p.(Ala146Val) NC_000011.10:533465:G:A p.(Ala146Val) NC_000011.10:533465:G:A Identity +NM_000448.3:c.2326C>T NP_000439.2:p.Arg776Trp NC_000011.10:36575629:C:T p.(Arg776Trp) NC_000011.10:36575629:C:T p.(Arg776Trp) NC_000011.10:36575629:C:T Identity +NM_000540.3:c.14477C>T NP_000531.2:p.Thr4826Ile NC_000019.10:38580093:C:T p.(Thr4826Ile) NC_000019.10:38580093:C:T p.(Thr4826Ile) NC_000019.10:38580093:C:T Identity +NM_000540.3:c.1739_1742dup NP_000531.2:p.His581fs NC_000019.10:38455697:AATCA:AATCAATCA p.(His581GlnfsTer30) NC_000019.10:38455697:AATCA:AATCAATCA p.(His581GlnfsTer30) ERR:SPDI Analogous +NM_000055.4:c.1574A>T NP_000046.1:p.Glu525Val NC_000003.12:165786254:T:A p.(Glu525Val) NC_000003.12:165786254:T:A p.(Glu525Val) NC_000003.12:165786254:T:A Identity +NM_001256850.1:c.100605_100612del NP_001243779.1:p.Gln33535fs NC_000002.12:178531079:TGGTCACTTGGT:TGGT p.(Gln33535HisfsTer9) NC_000002.12:178531079:TGGTCACTTGGT:TGGT p.(Gln33535HisfsTer9) NC_000002.12:178531079:TGGTCACT: Analogous +NM_003126.4:c.82C>A NP_003117.2:p.Arg28Ser NC_000001.11:158685289:G:T p.(Arg28Ser) NC_000001.11:158685289:G:T p.(Arg28Ser) NC_000001.11:158685289:G:T Identity +NM_003126.4:c.83G>A NP_003117.2:p.Arg28His NC_000001.11:158685288:C:T p.(Arg28His) NC_000001.11:158685288:C:T p.(Arg28His) NC_000001.11:158685288:C:T Identity +NM_001165963.4:c.657_658del NP_001159435.1:p.Arg219fs NC_000002.12:166052887:CTCT:CT p.(Arg219SerfsTer57) NC_000002.12:166052887:CTCT:CT p.(Arg219SerfsTer57) NC_000002.12:166052887:CT: Analogous +NM_000119.3:c.1747G>T NP_000110.2:p.Glu583Ter NC_000015.10:43203236:C:A p.(Glu583Ter) NC_000015.10:43203236:C:A p.(Glu583Ter) NC_000015.10:43203236:C:A Identity +NM_000283.4:c.1669C>T NP_000274.3:p.His557Tyr NC_000004.12:662187:C:T p.(His557Tyr) NC_000004.12:662187:C:T p.(His557Tyr) NC_000004.12:662187:C:T Identity +LRG_669t1:c.353G>A LRG_669p1:p.Gly118Asp NC_000019.10:53889704:G:A ERR:Data provider error: ValueError: Transcript LRG_669t1 not found ERR:Data provider error: ValueError: Transcript LRG_669t1 not found ERR:AlignmentMapper(tx_ac=LRG_669t1, alt_ac=LRG_669t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_669t1, alt_ac=LRG_669t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_669t1 not found +NM_000226.4:c.478C>G NP_000217.2:p.Leu160Val NC_000017.11:41571514:G:C p.(Leu160Val) NC_000017.11:41571514:G:C p.(Leu160Val) NC_000017.11:41571514:G:C Identity +NM_000187.4:c.1102A>G NP_000178.2:p.Met368Val NC_000003.12:120633232:T:C p.(Met368Val) NC_000003.12:120633232:T:C p.(Met368Val) NC_000003.12:120633232:T:C Identity +LRG_675t1:c.2593C>T LRG_675p1:p.Arg865Ter NC_000020.11:51789009:G:A ERR:Data provider error: ValueError: Transcript LRG_675t1 not found ERR:Data provider error: ValueError: Transcript LRG_675t1 not found ERR:AlignmentMapper(tx_ac=LRG_675t1, alt_ac=LRG_675t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_675t1, alt_ac=LRG_675t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_675t1 not found +NM_000378.6:c.546C>A NP_000369.4:p.Tyr182Ter NC_000011.10:32434814:G:T p.(Tyr182Ter) NC_000011.10:32434814:G:T p.(Tyr182Ter) NC_000011.10:32434814:G:T Identity +NM_000086.2:c.883G>A NP_000077.1:p.Glu295Lys NC_000016.10:28482499:C:T p.(Glu295Lys) NC_000016.10:28482499:C:T p.(Glu295Lys) NC_000016.10:28482499:C:T Identity +LRG_84t1:c.1705C>T LRG_84p1:p.Arg569Trp NC_000017.11:58272834:G:A ERR:Data provider error: ValueError: Transcript LRG_84t1 not found ERR:Data provider error: ValueError: Transcript LRG_84t1 not found ERR:AlignmentMapper(tx_ac=LRG_84t1, alt_ac=LRG_84t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_84t1, alt_ac=LRG_84t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_84t1 not found +NM_000527.5:c.681C>G NP_000518.1:p.Asp227Glu NC_000019.10:11105586:C:G p.(Asp227Glu) NC_000019.10:11105586:C:G p.(Asp227Glu) NC_000019.10:11105586:C:G Identity +NM_001365684.2:c.5577dup NP_001352613.2:p.Lys1860Glnfs NC_000005.10:177292143:CC:CCC p.(Lys1860GlnfsTer15) NC_000005.10:177292143:CC:CCC p.(Lys1860GlnfsTer15) ERR:SPDI Analogous +NM_015629.4:c.646G>C NP_056444.3:p.Ala216Pro NC_000019.10:54123866:G:C p.(Ala216Pro) NC_000019.10:54123866:G:C p.(Ala216Pro) NC_000019.10:54123866:G:C Identity +NM_001031681.3:c.414G>A NP_001026851.2:p.Trp138Ter NC_000017.11:3655304:G:A p.(Trp138Ter) NC_000017.11:3655304:G:A p.(Trp138Ter) NC_000017.11:3655304:G:A Identity +NM_001324192.1:c.533C>A NP_001311121.1:p.Ser178Ter NC_000020.11:3889632:C:A p.(Ser178Ter) NC_000020.11:3889632:C:A p.(Ser178Ter) NC_000020.11:3889632:C:A Identity +LRG_177t1:c.1001G>A LRG_177p1:p.Arg334Gln NC_000016.10:50710911:G:A ERR:Data provider error: ValueError: Transcript LRG_177t1 not found ERR:Data provider error: ValueError: Transcript LRG_177t1 not found ERR:AlignmentMapper(tx_ac=LRG_177t1, alt_ac=LRG_177t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_177t1, alt_ac=LRG_177t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_177t1 not found +NM_021926.4:c.418C>T NP_068745.2:p.Gln140Ter NC_000011.10:44309644:G:A p.(Gln140Ter) NC_000011.10:44309644:G:A p.(Gln140Ter) NC_000011.10:44309644:G:A Identity +NM_001377486.1:c.817G>A NP_001364415.1:p.Glu273Lys NC_000016.10:81365431:G:A p.(Glu273Lys) NC_000016.10:81365431:G:A p.(Glu273Lys) NC_000016.10:81365431:G:A Identity +NM_007375.4:c.869G>C NP_031401.1:p.Gly290Ala NC_000001.11:11022277:G:C p.(Gly290Ala) NC_000001.11:11022277:G:C p.(Gly290Ala) NC_000001.11:11022277:G:C Identity +NM_001005207.5:c.860G>A NP_001005207.1:p.Ser287Asn NC_000017.11:59064354:C:T p.(Ser287Asn) NC_000017.11:59064354:C:T p.(Ser287Asn) NC_000017.11:59064354:C:T Identity +NM_000195.5:c.1472_1487dup NP_000186.2:p.His497fs NC_000010.11:98423797:GGGCCTCCCCTGCTGGGGGC:GGGCCTCCCCTGCTGGGGGCCTCCCCTGCTGGGGGC p.(His497GlnfsTer90) NC_000010.11:98423797:GGGCCTCCCCTGCTGGGGGC:GGGCCTCCCCTGCTGGGGGCCTCCCCTGCTGGGGGC p.(His497GlnfsTer90) ERR:SPDI Analogous +NM_018848.3:c.155G>A NP_061336.1:p.Gly52Asp NC_000020.11:10413359:C:T p.(Gly52Asp) NC_000020.11:10413359:C:T p.(Gly52Asp) NC_000020.11:10413359:C:T Identity +NM_001040108.2:c.3826T>C NP_001035197.1:p.Trp1276Arg NC_000014.9:75032068:A:G p.(Trp1276Arg) NC_000014.9:75032068:A:G p.(Trp1276Arg) NC_000014.9:75032068:A:G Identity +NM_014252.4:c.824G>A NP_055067.1:p.Arg275Gln NC_000013.11:40809584:G:A p.(Arg275Gln) NC_000013.11:40809584:G:A p.(Arg275Gln) NC_000013.11:40809584:G:A Identity +NM_014252.4:c.212T>A NP_055067.1:p.Leu71Gln NC_000013.11:40799212:T:A p.(Leu71Gln) NC_000013.11:40799212:T:A p.(Leu71Gln) NC_000013.11:40799212:T:A Identity +NM_004273.5:c.475T>A NP_004264.2:p.Phe159Ile NC_000010.11:72007505:T:A p.(Phe159Ile) NC_000010.11:72007505:T:A p.(Phe159Ile) NC_000010.11:72007505:T:A Identity +NM_001362836.2:c.1948A>C NP_001349765.1:p.Met650Leu NC_000008.11:105802188:A:C p.(Met650Leu) NC_000008.11:105802188:A:C p.(Met650Leu) NC_000008.11:105802188:A:C Identity +NM_001079866.2:c.296C>T NP_001073335.1:p.Pro99Leu NC_000002.12:218661282:C:T p.(Pro99Leu) NC_000002.12:218661282:C:T p.(Pro99Leu) NC_000002.12:218661282:C:T Identity +NM_002335.4:c.512G>T NP_002326.2:p.Gly171Val NC_000011.10:68357672:G:T p.(Gly171Val) NC_000011.10:68357672:G:T p.(Gly171Val) NC_000011.10:68357672:G:T Identity +NM_001139517.1:c.234_235del NP_001132989.1:p.His78fs NC_000002.12:178447553:TAT:T p.(His78GlnfsTer22) NC_000002.12:178447553:TAT:T p.(His78GlnfsTer22) NC_000002.12:178447553:TA: Analogous +NM_001308122.2:c.725_726insTATGGCCATCAGGTTGGAG NP_001295051.1:p.Thr243fs NC_000005.10:132385327:G:GTATGGCCATCAGGTTGGAG p.(Thr243MetfsTer67) NC_000005.10:132385327:G:TATGGCCATCAGGTTGGAG p.(Thr243MetfsTer67) NC_000005.10:132385328:GG:TATGGCCATCAGGTTGGAG Analogous +NM_003571.4:c.694GAA[1] NP_003562.1:p.Glu233del NC_000003.12:133448607:AAGAAGAA:AAGAA p.(Glu233del) NC_000003.12:133448609:G:GAA ERR:Parse ERR:Parse Identity +NM_001362843.2:c.2799_2806del NP_001349772.1:p.Thr934fs NC_000022.11:41151889:AGCACAGAAG:AG p.(Thr934GlufsTer7) NC_000022.11:41151889:AGCACAGAAG:AG p.(Thr934GlufsTer7) NC_000022.11:41151891:CACAGAAG: Analogous +NM_001024688.3:c.495_496dup NP_001019859.1:p.Glu166fs NC_000008.11:89970517:CCCC:CCCCCC p.(Glu166GlyfsTer5) NC_000008.11:89970517:CCCC:CCCCCC p.(Glu166GlyfsTer5) ERR:SPDI Analogous +NM_005251.3:c.290_300del NP_005242.1:p.Gly97fs NC_000016.10:86567623:GGCATCTACCAG:G p.(Gly97ValfsTer362) NC_000016.10:86567623:GGCATCTACCAG:G p.(Gly97ValfsTer362) NC_000016.10:86567624:GCATCTACCAG: Analogous +NM_000453.3:c.1628G>A NP_000444.1:p.Gly543Glu NC_000019.10:17888431:G:A p.(Gly543Glu) NC_000019.10:17888431:G:A p.(Gly543Glu) NC_000019.10:17888431:G:A Identity +NM_000376.3:c.915C>G NP_000367.1:p.His305Gln NC_000012.12:47846443:G:C p.(His305Gln) NC_000012.12:47846443:G:C p.(His305Gln) NC_000012.12:47846443:G:C Identity +NM_002500.5:c.332G>T NP_002491.3:p.Arg111Leu NC_000002.12:181678528:C:A p.(Arg111Leu) NC_000002.12:181678528:C:A p.(Arg111Leu) NC_000002.12:181678528:C:A Identity +NM_000350.3:c.6529G>A NP_000341.2:p.Asp2177Asn NC_000001.11:93998060:C:T p.(Asp2177Asn) NC_000001.11:93998060:C:T p.(Asp2177Asn) NC_000001.11:93998060:C:T Identity +NM_000579.4:c.668G>A NP_000570.1:p.Arg223Gln NC_000003.12:46373569:G:A p.(Arg223Gln) NC_000003.12:46373569:G:A p.(Arg223Gln) NC_000003.12:46373569:G:A Identity +NM_000388.4:c.2363T>G NP_000379.3:p.Phe788Cys NC_000003.12:122284316:T:G p.(Phe788Cys) NC_000003.12:122284316:T:G p.(Phe788Cys) NC_000003.12:122284316:T:G Identity +NM_001363688.1:c.358C>T NP_001350617.1:p.Pro120Ser NC_000014.9:74484419:G:A p.(Pro120Ser) NC_000014.9:74484419:G:A p.(Pro120Ser) NC_000014.9:74484419:G:A Identity +NM_000068.4:c.3841C>T NP_000059.3:p.Arg1281Ter NC_000019.10:13277121:G:A p.(Arg1281Ter) NC_000019.10:13277121:G:A p.(Arg1281Ter) NC_000019.10:13277121:G:A Identity +NM_000901.5:c.2453C>T NP_000892.2:p.Ser818Leu NC_000004.12:148152525:G:A p.(Ser818Leu) NC_000004.12:148152525:G:A p.(Ser818Leu) NC_000004.12:148152525:G:A Identity +NM_000339.3:c.1964G>T NP_000330.3:p.Arg655Leu NC_000016.10:56886401:G:T p.(Arg655Leu) NC_000016.10:56886401:G:T p.(Arg655Leu) NC_000016.10:56886401:G:T Identity +NM_000163.5:c.703C>T NP_000154.1:p.Arg235Ter NC_000005.10:42711290:C:T p.(Arg235Ter) NC_000005.10:42711290:C:T p.(Arg235Ter) NC_000005.10:42711290:C:T Identity +NM_002181.4:c.284A>G NP_002172.2:p.Glu95Gly NC_000002.12:219060183:T:C p.(Glu95Gly) NC_000002.12:219060183:T:C p.(Glu95Gly) NC_000002.12:219060183:T:C Identity +NM_001031847.3:c.2129G>A NP_001027017.1:p.Gly710Glu NC_000011.10:68760237:C:T p.(Gly710Glu) NC_000011.10:68760237:C:T p.(Gly710Glu) NC_000011.10:68760237:C:T Identity +NM_005220.3:c.561_562del NP_005211.1:p.Tyr188fs NC_000017.11:49991818:AGAG:AG p.(Tyr188GlnfsTer13) NC_000017.11:49991818:AGAG:AG p.(Tyr188GlnfsTer13) NC_000017.11:49991818:AG: Analogous +NM_000352.6:c.215A>G NP_000343.2:p.Asn72Ser NC_000011.10:17474960:T:C p.(Asn72Ser) NC_000011.10:17474960:T:C p.(Asn72Ser) NC_000011.10:17474960:T:C Identity +NM_001316772.1:c.212A>G NP_001303701.1:p.Glu71Gly NC_000007.14:30599995:A:G p.(Glu71Gly) NC_000007.14:30599995:A:G p.(Glu71Gly) NC_000007.14:30599995:A:G Identity +NM_003140.3:c.317A>T NP_003131.1:p.Lys106Ile NC_000024.10:2787286:T:A p.(Lys106Ile) NC_000024.10:2787286:T:A p.(Lys106Ile) NC_000024.10:2787286:T:A Identity +NM_001282622.3:c.202dup NP_001269551.1:p.Arg68fs NC_000023.11:53220864:GGGGGG:GGGGGGG p.(Arg68ProfsTer7) NC_000023.11:53220864:GGGGGG:GGGGGGG p.(Arg68ProfsTer7) ERR:SPDI Analogous +NM_000216.4:c.1540G>A NP_000207.2:p.Glu514Lys NC_000023.11:8536851:C:T p.(Glu514Lys) NC_000023.11:8536851:C:T p.(Glu514Lys) NC_000023.11:8536851:C:T Identity +NM_000132.4:c.5422C>T NP_000123.1:p.Leu1808Phe NC_000023.11:154904974:G:A p.(Leu1808Phe) NC_000023.11:154904974:G:A p.(Leu1808Phe) NC_000023.11:154904974:G:A Identity +NM_000133.4:c.278A>G NP_000124.1:p.Asp93Gly NC_000023.11:139541075:A:G p.(Asp93Gly) NC_000023.11:139541075:A:G p.(Asp93Gly) NC_000023.11:139541075:A:G Identity +NM_000133.4:c.1357T>C NP_000124.1:p.Trp453Arg NC_000023.11:139562041:T:C p.(Trp453Arg) NC_000023.11:139562041:T:C p.(Trp453Arg) NC_000023.11:139562041:T:C Identity +NM_000169.3:c.1192G>T NP_000160.1:p.Glu398Ter NC_000023.11:101397906:C:A p.(Glu398Ter) NC_000023.11:101397906:C:A p.(Glu398Ter) NC_000023.11:101397906:C:A Identity +NM_000381.4:c.343G>T NP_000372.1:p.Glu115Ter NC_000023.11:10567204:C:A p.(Glu115Ter) NC_000023.11:10567204:C:A p.(Glu115Ter) NC_000023.11:10567204:C:A Identity +NM_000276.4:c.1572C>G NP_000267.2:p.His524Gln NC_000023.11:129569368:C:G p.(His524Gln) NC_000023.11:129569368:C:G p.(His524Gln) NC_000023.11:129569368:C:G Identity +NM_000531.6:c.386G>A NP_000522.3:p.Arg129His NC_000023.11:38381428:G:A p.(Arg129His) NC_000023.11:38381428:G:A p.(Arg129His) NC_000023.11:38381428:G:A Identity +NM_000533.5:c.544A>C NP_000524.3:p.Thr182Pro NC_000023.11:103787887:A:C p.(Thr182Pro) NC_000023.11:103787887:A:C p.(Thr182Pro) NC_000023.11:103787887:A:C Identity +NM_000033.4:c.1820del NP_000024.2:p.Gly607fs NC_000023.11:153743023:GGG:GG p.(Gly607ValfsTer29) NC_000023.11:153743023:GGG:GG p.(Gly607ValfsTer29) NC_000023.11:153743025:G: Analogous +NM_000061.3:c.1625T>C NP_000052.1:p.Leu542Pro NC_000023.11:101354635:A:G p.(Leu542Pro) NC_000023.11:101354635:A:G p.(Leu542Pro) NC_000023.11:101354635:A:G Identity +NM_000061.3:c.1685G>C NP_000052.1:p.Arg562Pro NC_000023.11:101353934:C:G p.(Arg562Pro) NC_000023.11:101353934:C:G p.(Arg562Pro) NC_000023.11:101353934:C:G Identity +NM_000084.5:c.1558T>C NP_000075.1:p.Ser520Pro NC_000023.11:50090138:T:C p.(Ser520Pro) NC_000023.11:50090138:T:C p.(Ser520Pro) NC_000023.11:50090138:T:C Identity +NM_001110792.2:c.799C>T NP_001104262.1:p.Arg267Ter NC_000023.11:154031064:G:A p.(Arg267Ter) NC_000023.11:154031064:G:A p.(Arg267Ter) NC_000023.11:154031064:G:A Identity +NM_000196.4:c.623G>A NP_000187.3:p.Arg208His NC_000016.10:67436100:G:A p.(Arg208His) NC_000016.10:67436100:G:A p.(Arg208His) NC_000016.10:67436100:G:A Identity +LRG_1390t1:c.2254C>T LRG_1390p1:p.Arg752Cys NC_000001.11:162776340:C:T ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found +NM_001063.4:c.830G>A NP_001054.2:p.Gly277Asp NC_000003.12:133756968:G:A p.(Gly277Asp) NC_000003.12:133756968:G:A p.(Gly277Asp) NC_000003.12:133756968:G:A Identity +NM_003000.3:c.79C>T NP_002991.2:p.Arg27Ter NC_000001.11:17044881:G:A p.(Arg27Ter) NC_000001.11:17044881:G:A p.(Arg27Ter) NC_000001.11:17044881:G:A Identity +NM_000702.4:c.2291T>C NP_000693.1:p.Leu764Pro NC_000001.11:160135844:T:C p.(Leu764Pro) NC_000001.11:160135844:T:C p.(Leu764Pro) NC_000001.11:160135844:T:C Identity +NM_000055.4:c.812C>T NP_000046.1:p.Thr271Met NC_000003.12:165830221:G:A p.(Thr271Met) NC_000003.12:165830221:G:A p.(Thr271Met) NC_000003.12:165830221:G:A Identity +NM_000313.4:c.773A>G NP_000304.2:p.Asn258Ser NC_000003.12:93898523:T:C p.(Asn258Ser) NC_000003.12:93898523:T:C p.(Asn258Ser) NC_000003.12:93898523:T:C Identity +NM_000217.3:c.551T>G NP_000208.2:p.Phe184Cys NC_000012.12:4911928:T:G p.(Phe184Cys) NC_000012.12:4911928:T:G p.(Phe184Cys) NC_000012.12:4911928:T:G Identity +NM_000212.3:c.836A>T NP_000203.2:p.Lys279Met NC_000017.11:47287127:A:T p.(Lys279Met) NC_000017.11:47287127:A:T p.(Lys279Met) NC_000017.11:47287127:A:T Identity +NM_000300.4:c.144_145del NP_000291.1:p.Cys48fs NC_000001.11:19978419:CACA:CA p.(Cys48TrpfsTer20) NC_000001.11:19978419:CACA:CA p.(Cys48TrpfsTer20) NC_000001.11:19978419:CA: Analogous +LRG_310t1:c.1636C>G LRG_310p1:p.Gln546Glu NC_000003.12:179218305:C:G ERR:Data provider error: ValueError: Transcript LRG_310t1 not found ERR:Data provider error: ValueError: Transcript LRG_310t1 not found ERR:AlignmentMapper(tx_ac=LRG_310t1, alt_ac=LRG_310t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_310t1, alt_ac=LRG_310t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_310t1 not found +NM_001372076.1:c.62T>C NP_001359005.1:p.Leu21Pro NC_000014.9:36662953:T:C p.(Leu21Pro) NC_000014.9:36662953:T:C p.(Leu21Pro) NC_000014.9:36662953:T:C Identity +NM_003466.4:c.170G>A NP_003457.1:p.Cys57Tyr NC_000002.12:113246774:C:T p.(Cys57Tyr) NC_000002.12:113246774:C:T p.(Cys57Tyr) NC_000002.12:113246774:C:T Identity +NM_000222.3:c.2447A>T NP_000213.1:p.Asp816Val NC_000004.12:54733154:A:T p.(Asp816Val) NC_000004.12:54733154:A:T p.(Asp816Val) NC_000004.12:54733154:A:T Identity +NM_005249.5:c.643T>C NP_005240.3:p.Phe215Leu NC_000014.9:28767921:T:C p.(Phe215Leu) NC_000014.9:28767921:T:C p.(Phe215Leu) NC_000014.9:28767921:T:C Identity +LRG_92t1:c.179G>A LRG_92p1:p.Gly60Glu NC_000001.11:114713910:C:T ERR:Data provider error: ValueError: Transcript LRG_92t1 not found ERR:Data provider error: ValueError: Transcript LRG_92t1 not found ERR:AlignmentMapper(tx_ac=LRG_92t1, alt_ac=LRG_92t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_92t1, alt_ac=LRG_92t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_92t1 not found +NM_000323.2:c.692G>A NP_000314.1:p.Arg231His NC_000010.11:43105017:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001395489.1:c.616C>T NP_001382418.1:p.Arg206Trp NC_000019.10:49061381:G:A p.(Arg206Trp) NC_000019.10:49061381:G:A p.(Arg206Trp) NC_000019.10:49061381:G:A Identity +NM_001123066.4:c.1913G>T NP_001116538.2:p.Gly638Val NC_000017.11:46010394:G:T p.(Gly638Val) NC_000017.11:46010394:G:T p.(Gly638Val) NC_000017.11:46010394:G:T Identity +NM_000427.3:c.664dup NP_000418.2:p.Gln222fs NC_000001.11:153261609:CCCC:CCCCC p.(Gln222ProfsTer114) NC_000001.11:153261609:CCCC:CCCCC p.(Gln222ProfsTer114) ERR:SPDI Analogous +NM_005557.4:c.371T>G NP_005548.2:p.Leu124Arg NC_000017.11:41612317:A:C p.(Leu124Arg) NC_000017.11:41612317:A:C p.(Leu124Arg) NC_000017.11:41612317:A:C Identity +NM_000424.4:c.1414A>T NP_000415.2:p.Lys472Ter NC_000012.12:52516661:T:A p.(Lys472Ter) NC_000012.12:52516661:T:A p.(Lys472Ter) NC_000012.12:52516661:T:A Identity +NM_000208.4:c.779T>C NP_000199.2:p.Leu260Pro NC_000019.10:7184510:A:G p.(Leu260Pro) NC_000019.10:7184510:A:G p.(Leu260Pro) NC_000019.10:7184510:A:G Identity +NM_000454.5:c.115C>G NP_000445.1:p.Leu39Val NC_000021.9:31663831:C:G p.(Leu39Val) NC_000021.9:31663831:C:G p.(Leu39Val) NC_000021.9:31663831:C:G Identity +NM_000454.5:c.455T>C NP_000445.1:p.Ile152Thr NC_000021.9:31668567:T:C p.(Ile152Thr) NC_000021.9:31668567:T:C p.(Ile152Thr) NC_000021.9:31668567:T:C Identity +NM_000618.5:c.274G>A NP_000609.1:p.Val92Met NC_000012.12:102419636:C:T p.(Val92Met) NC_000012.12:102419636:C:T p.(Val92Met) NC_000012.12:102419636:C:T Identity +NM_014621.3:c.242A>T NP_055436.2:p.Glu81Val NC_000002.12:176151874:A:T p.(Glu81Val) NC_000002.12:176151874:A:T p.(Glu81Val) NC_000002.12:176151874:A:T Identity +NM_000371.4:c.149T>C NP_000362.1:p.Val50Ala NC_000018.10:31592974:T:C p.(Val50Ala) NC_000018.10:31592974:T:C p.(Val50Ala) NC_000018.10:31592974:T:C Identity +NM_000371.4:c.350C>G NP_000362.1:p.Ala117Gly NC_000018.10:31598580:C:G p.(Ala117Gly) NC_000018.10:31598580:C:G p.(Ala117Gly) NC_000018.10:31598580:C:G Identity +NM_000174.5:c.110A>G NP_000165.1:p.Asp37Gly NC_000003.12:129061848:A:G p.(Asp37Gly) NC_000003.12:129061848:A:G p.(Asp37Gly) NC_000003.12:129061848:A:G Identity +NM_001370503.1:c.155T>C NP_001357432.1:p.Met52Thr NC_000007.14:56019719:A:G p.(Met52Thr) NC_000007.14:56019719:A:G p.(Met52Thr) NC_000007.14:56019719:A:G Identity +NM_000443.4:c.959C>T NP_000434.1:p.Ser320Phe NC_000007.14:87447079:G:A p.(Ser320Phe) NC_000007.14:87447079:G:A p.(Ser320Phe) NC_000007.14:87447079:G:A Identity +NM_003466.4:c.119A>C NP_003457.1:p.Gln40Pro NC_000002.12:113246825:T:G p.(Gln40Pro) NC_000002.12:113246825:T:G p.(Gln40Pro) NC_000002.12:113246825:T:G Identity +NM_005188.4:c.1144A>G NP_005179.2:p.Lys382Glu NC_000011.10:119278213:A:G p.(Lys382Glu) NC_000011.10:119278213:A:G p.(Lys382Glu) NC_000011.10:119278213:A:G Identity +NM_000519.4:c.226C>G NP_000510.1:p.Leu76Val NC_000011.10:5234079:G:C p.(Leu76Val) NC_000011.10:5234079:G:C p.(Leu76Val) NC_000011.10:5234079:G:C Identity +NM_000518.5:c.431A>G NP_000509.1:p.His144Arg NC_000011.10:5225610:T:C p.(His144Arg) NC_000011.10:5225610:T:C p.(His144Arg) NC_000011.10:5225610:T:C Identity +NM_000212.3:c.506G>A NP_000203.2:p.Arg169Gln NC_000017.11:47284586:G:A p.(Arg169Gln) NC_000017.11:47284586:G:A p.(Arg169Gln) NC_000017.11:47284586:G:A Identity +NM_000301.5:c.2251G>A NP_000292.1:p.Gly751Arg NC_000006.12:160752239:G:A p.(Gly751Arg) NC_000006.12:160752239:G:A p.(Gly751Arg) NC_000006.12:160752239:G:A Identity +NM_006208.3:c.2702A>C NP_006199.2:p.Tyr901Ser NC_000006.12:131890434:A:C p.(Tyr901Ser) NC_000006.12:131890434:A:C p.(Tyr901Ser) NC_000006.12:131890434:A:C Identity +NM_006208.3:c.878_879del NP_006199.2:p.Lys293fs NC_000006.12:131860467:AAA:A p.(Lys293ArgfsTer4) NC_000006.12:131860467:AAA:A p.(Lys293ArgfsTer4) NC_000006.12:131860468:AA: Analogous +NM_000316.3:c.1229C>G NP_000307.1:p.Thr410Arg NC_000003.12:46902542:C:G p.(Thr410Arg) NC_000003.12:46902542:C:G p.(Thr410Arg) NC_000003.12:46902542:C:G Identity +LRG_1178t1:c.1016T>C LRG_1178p1:p.Leu339Pro NC_000019.10:34394019:T:C ERR:Data provider error: ValueError: Transcript LRG_1178t1 not found ERR:Data provider error: ValueError: Transcript LRG_1178t1 not found ERR:AlignmentMapper(tx_ac=LRG_1178t1, alt_ac=LRG_1178t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1178t1, alt_ac=LRG_1178t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1178t1 not found +NM_000443.4:c.1207T>C NP_000434.1:p.Tyr403His NC_000007.14:87443685:A:G p.(Tyr403His) NC_000007.14:87443685:A:G p.(Tyr403His) NC_000007.14:87443685:A:G Identity +NM_000439.5:c.920C>T NP_000430.3:p.Ser307Leu NC_000005.10:96410948:G:A p.(Ser307Leu) NC_000005.10:96410948:G:A p.(Ser307Leu) NC_000005.10:96410948:G:A Identity +NM_001166102.2:c.613G>A NP_001159574.1:p.Glu205Lys NC_000011.10:67610509:G:A p.(Glu205Lys) NC_000011.10:67610509:G:A p.(Glu205Lys) NC_000011.10:67610509:G:A Identity +NM_001005862.3:c.1870A>G NP_001005862.1:p.Ile624Val NC_000017.11:39723331:A:G p.(Ile624Val) NC_000017.11:39723331:A:G p.(Ile624Val) NC_000017.11:39723331:A:G Identity +LRG_662t1:c.3712G>A LRG_662p1:p.Val1238Ile NC_000007.14:116783328:G:A ERR:Data provider error: ValueError: Transcript LRG_662t1 not found ERR:Data provider error: ValueError: Transcript LRG_662t1 not found ERR:AlignmentMapper(tx_ac=LRG_662t1, alt_ac=LRG_662t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_662t1, alt_ac=LRG_662t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_662t1 not found +NM_000270.4:c.383A>G NP_000261.2:p.Asp128Gly NC_000014.9:20474869:A:G p.(Asp128Gly) NC_000014.9:20474869:A:G p.(Asp128Gly) NC_000014.9:20474869:A:G Identity +NM_006158.5:c.281T>C NP_006149.2:p.Leu94Pro NC_000008.11:24956234:A:G p.(Leu94Pro) NC_000008.11:24956234:A:G p.(Leu94Pro) NC_000008.11:24956234:A:G Identity +NM_000518.5:c.233A>G NP_000509.1:p.His78Arg NC_000011.10:5226658:T:C p.(His78Arg) NC_000011.10:5226658:T:C p.(His78Arg) NC_000011.10:5226658:T:C Identity +NM_000168.6:c.2188_2206del NP_000159.3:p.Leu730fs NC_000007.14:41967820:CTCCATCGGTCAGAGGAAGCTC:CTC p.(Leu730ValfsTer3) NC_000007.14:41967820:CTCCATCGGTCAGAGGAAGCTC:CTC p.(Leu730ValfsTer3) NC_000007.14:41967820:CTCCATCGGTCAGAGGAAG: Analogous +NM_001354609.2:c.1741A>G NP_001341538.1:p.Asn581Asp NC_000007.14:140754186:T:C p.(Asn581Asp) NC_000007.14:140754186:T:C p.(Asn581Asp) NC_000007.14:140754186:T:C Identity +NM_001354768.3:c.223dup NP_001341697.1:p.Leu75fs NC_000014.9:24082625:G:GG p.(Leu75ProfsTer19) NC_000014.9:24082625:G:GG p.(Leu75ProfsTer19) ERR:SPDI Analogous +LRG_256t1:c.292C>T LRG_256p1:p.Arg98Cys NC_000001.11:161306863:G:A ERR:Data provider error: ValueError: Transcript LRG_256t1 not found ERR:Data provider error: ValueError: Transcript LRG_256t1 not found ERR:AlignmentMapper(tx_ac=LRG_256t1, alt_ac=LRG_256t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_256t1, alt_ac=LRG_256t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_256t1 not found +NM_002386.4:c.470C>T NP_002377.4:p.Thr157Ile NC_000016.10:89919727:C:T p.(Thr157Ile) NC_000016.10:89919727:C:T p.(Thr157Ile) NC_000016.10:89919727:C:T Identity +NM_002317.7:c.473G>A NP_002308.2:p.Arg158Gln NC_000005.10:122077512:C:T p.(Arg158Gln) NC_000005.10:122077512:C:T p.(Arg158Gln) NC_000005.10:122077512:C:T Identity +NM_002292.4:c.737G>A NP_002283.3:p.Arg246Gln NC_000003.12:49131127:C:T p.(Arg246Gln) NC_000003.12:49131127:C:T p.(Arg246Gln) NC_000003.12:49131127:C:T Identity +NM_001257374.3:c.1244G>A NP_001244303.1:p.Arg415His NC_000001.11:156137203:G:A p.(Arg415His) NC_000001.11:156137203:G:A p.(Arg415His) NC_000001.11:156137203:G:A Identity +NM_000201.3:c.167A>T NP_000192.2:p.Lys56Met NC_000019.10:10274863:A:T p.(Lys56Met) NC_000019.10:10274863:A:T p.(Lys56Met) NC_000019.10:10274863:A:T Identity +NM_000577.5:c.175G>T NP_000568.1:p.Glu59Ter NC_000002.12:113131067:G:T p.(Glu59Ter) NC_000002.12:113131067:G:T p.(Glu59Ter) NC_000002.12:113131067:G:T Identity +NM_000454.5:c.280G>C NP_000445.1:p.Gly94Arg NC_000021.9:31667297:G:C p.(Gly94Arg) NC_000021.9:31667297:G:C p.(Gly94Arg) NC_000021.9:31667297:G:C Identity +NM_001174097.3:c.385A>C NP_001167568.1:p.Ser129Arg NC_000012.12:21643970:T:G p.(Ser129Arg) NC_000012.12:21643970:T:G p.(Ser129Arg) NC_000012.12:21643970:T:G Identity +NM_001329128.2:c.335_336del NP_001316057.1:p.Glu112fs NC_000021.9:33421548:AGAG:AG p.(Glu112ValfsTer2) NC_000021.9:33421548:AGAG:AG p.(Glu112ValfsTer2) NC_000021.9:33421550:AG: Analogous +NM_000875.5:c.1532G>A NP_000866.1:p.Arg511Gln NC_000015.10:98911383:G:A p.(Arg511Gln) NC_000015.10:98911383:G:A p.(Arg511Gln) NC_000015.10:98911383:G:A Identity +NM_001369906.1:c.64C>T NP_001356835.1:p.Gln22Ter NC_000022.11:23580126:G:A p.(Gln22Ter) NC_000022.11:23580126:G:A p.(Gln22Ter) NC_000022.11:23580126:G:A Identity +NM_000883.4:c.1057G>A NP_000874.2:p.Val353Ile NC_000007.14:128398430:C:T p.(Val353Ile) NC_000007.14:128398430:C:T p.(Val353Ile) NC_000007.14:128398430:C:T Identity +NM_000523.4:c.323_336del NP_000514.2:p.Pro108fs NC_000002.12:176093212:CAGCACCCACGCCT: p.(Pro108ArgfsTer124) NC_000002.12:176093212:CAGCACCCACGCCT: p.(Pro108ArgfsTer124) NC_000002.12:176093212:CAGCACCCACGCCT: Analogous +NM_005523.6:c.872del NP_005514.1:p.Asn291fs NC_000007.14:27182865:TT:T p.(Asn291ThrfsTer4) NC_000007.14:27182865:TT:T p.(Asn291ThrfsTer4) NC_000007.14:27182865:T: Analogous +NM_001306146.2:c.951G>A NP_001293075.1:p.Trp317Ter NC_000015.10:50252519:C:T p.(Trp317Ter) NC_000015.10:50252519:C:T p.(Trp317Ter) NC_000015.10:50252519:C:T Identity +NM_000184.3:c.122G>A NP_000175.1:p.Arg41Lys NC_000011.10:5254484:C:T p.(Arg41Lys) NC_000011.10:5254484:C:T p.(Arg41Lys) NC_000011.10:5254484:C:T Identity +LRG_1335t1:c.155C>G LRG_1335p1:p.Pro52Arg NC_000011.10:5234150:G:C ERR:Data provider error: ValueError: Transcript LRG_1335t1 not found ERR:Data provider error: ValueError: Transcript LRG_1335t1 not found ERR:AlignmentMapper(tx_ac=LRG_1335t1, alt_ac=LRG_1335t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1335t1, alt_ac=LRG_1335t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1335t1 not found +NM_000518.5:c.361A>G NP_000509.1:p.Lys121Glu NC_000011.10:5225680:T:C p.(Lys121Glu) NC_000011.10:5225680:T:C p.(Lys121Glu) NC_000011.10:5225680:T:C Identity +NM_000184.3:c.54G>C NP_000175.1:p.Lys18Asn NC_000011.10:5254674:C:G p.(Lys18Asn) NC_000011.10:5254674:C:G p.(Lys18Asn) NC_000011.10:5254674:C:G Identity +NM_000518.5:c.206T>A NP_000509.1:p.Leu69His NC_000011.10:5226685:A:T p.(Leu69His) NC_000011.10:5226685:A:T p.(Leu69His) NC_000011.10:5226685:A:T Identity +LRG_1232t1:c.312C>G LRG_1232p1:p.Phe104Leu NC_000011.10:5226579:G:C ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found +NM_000518.5:c.362A>T NP_000509.1:p.Lys121Ile NC_000011.10:5225679:T:A p.(Lys121Ile) NC_000011.10:5225679:T:A p.(Lys121Ile) NC_000011.10:5225679:T:A Identity +NM_000518.5:c.4G>A NP_000509.1:p.Val2Met NC_000011.10:5227017:C:T p.(Val2Met) NC_000011.10:5227017:C:T p.(Val2Met) NC_000011.10:5227017:C:T Identity +NM_000518.5:c.112T>G NP_000509.1:p.Trp38Gly NC_000011.10:5226779:A:C p.(Trp38Gly) NC_000011.10:5226779:A:C p.(Trp38Gly) NC_000011.10:5226779:A:C Identity +LRG_1232t1:c.172A>G LRG_1232p1:p.Asn58Asp NC_000011.10:5226719:T:C ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found +NM_000518.5:c.142G>T NP_000509.1:p.Asp48Tyr NC_000011.10:5226749:C:A p.(Asp48Tyr) NC_000011.10:5226749:C:A p.(Asp48Tyr) NC_000011.10:5226749:C:A Identity +NM_000518.5:c.112T>A NP_000509.1:p.Trp38Arg NC_000011.10:5226779:A:T p.(Trp38Arg) NC_000011.10:5226779:A:T p.(Trp38Arg) NC_000011.10:5226779:A:T Identity +NM_000518.5:c.394C>A NP_000509.1:p.Gln132Lys NC_000011.10:5225647:G:T p.(Gln132Lys) NC_000011.10:5225647:G:T p.(Gln132Lys) NC_000011.10:5225647:G:T Identity +NM_000558.5:c.278G>A NP_000549.1:p.Arg93Gln NC_000016.10:177110:G:A p.(Arg93Gln) NC_000016.10:177110:G:A p.(Arg93Gln) NC_000016.10:177110:G:A Identity +LRG_1232t1:c.184A>C LRG_1232p1:p.Lys62Gln NC_000011.10:5226707:T:G ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1232t1, alt_ac=LRG_1232t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1232t1 not found +NM_000517.6:c.1del NP_000508.1:p.Met1fs NC_000016.10:172912:A: p.(Met1TrpfsTer49) NC_000016.10:172912:A: p.Met1? NC_000016.10:172912:A: Analogous +LRG_1225t1:c.227A>C LRG_1225p1:p.Asp76Ala NC_000016.10:177059:A:C ERR:Data provider error: ValueError: Transcript LRG_1225t1 not found ERR:Data provider error: ValueError: Transcript LRG_1225t1 not found ERR:AlignmentMapper(tx_ac=LRG_1225t1, alt_ac=LRG_1225t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1225t1, alt_ac=LRG_1225t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1225t1 not found +NM_000558.5:c.260T>G NP_000549.1:p.Leu87Arg NC_000016.10:177092:T:G p.(Leu87Arg) NC_000016.10:177092:T:G p.(Leu87Arg) NC_000016.10:177092:T:G Identity +NM_000558.5:c.46G>C NP_000549.1:p.Gly16Arg NC_000016.10:176761:G:C p.(Gly16Arg) NC_000016.10:176761:G:C p.(Gly16Arg) NC_000016.10:176761:G:C Identity +NM_000517.6:c.89T>C NP_000508.1:p.Leu30Pro NC_000016.10:173000:T:C p.(Leu30Pro) NC_000016.10:173000:T:C p.(Leu30Pro) NC_000016.10:173000:T:C Identity +NM_000558.5:c.256G>T NP_000549.1:p.Asp86Tyr NC_000016.10:177088:G:T p.(Asp86Tyr) NC_000016.10:177088:G:T p.(Asp86Tyr) NC_000016.10:177088:G:T Identity +NM_006121.4:c.564C>A NP_006112.3:p.Asn188Lys NC_000012.12:52679784:G:T p.(Asn188Lys) NC_000012.12:52679784:G:T p.(Asn188Lys) NC_000012.12:52679784:G:T Identity +NM_000823.4:c.985A>G NP_000814.2:p.Lys329Glu NC_000007.14:30976438:A:G p.(Lys329Glu) NC_000007.14:30976438:A:G p.(Lys329Glu) NC_000007.14:30976438:A:G Identity +NM_000516.7:c.302_303del NP_000507.1:p.Glu101fs NC_000020.11:58903572:AGAG:AG p.(Glu101GlyfsTer3) NC_000020.11:58903572:AGAG:AG p.(Glu101GlyfsTer3) NC_000020.11:58903574:AG: Analogous +NM_002890.3:c.475_476del NP_002881.1:p.Leu159fs NC_000005.10:87268921:CTCTCT:CTCT p.(Leu159GlyfsTer20) NC_000005.10:87268921:CTCTCT:CTCT p.(Leu159GlyfsTer20) NC_000005.10:87268925:CT: Analogous +NM_021957.4:c.1447T>C NP_068776.2:p.Ser483Pro NC_000012.12:21546445:A:G p.(Ser483Pro) NC_000012.12:21546445:A:G p.(Ser483Pro) NC_000012.12:21546445:A:G Identity +NM_001318900.1:c.1102T>C NP_001305829.1:p.Ser368Pro NC_000010.11:87053397:A:G p.(Ser368Pro) NC_000010.11:87053397:A:G p.(Ser368Pro) NC_000010.11:87053397:A:G Identity +NM_000145.4:c.1634T>C NP_000136.2:p.Ile545Thr NC_000002.12:48963186:A:G p.(Ile545Thr) NC_000002.12:48963186:A:G p.(Ile545Thr) NC_000002.12:48963186:A:G Identity +NM_001354989.2:c.2860C>T NP_001341918.1:p.Pro954Ser NC_000005.10:180618910:G:A p.(Pro954Ser) NC_000005.10:180618910:G:A p.(Pro954Ser) NC_000005.10:180618910:G:A Identity +NM_001002294.3:c.769G>A NP_001002294.1:p.Val257Met NC_000001.11:171110938:G:A p.(Val257Met) NC_000001.11:171110938:G:A p.(Val257Met) NC_000001.11:171110938:G:A Identity +NM_000171.4:c.832C>A NP_000162.2:p.Pro278Thr NC_000005.10:151851469:G:T p.(Pro278Thr) NC_000005.10:151851469:G:T p.(Pro278Thr) NC_000005.10:151851469:G:T Identity +NM_006516.4:c.277C>T NP_006507.2:p.Arg93Trp NC_000001.11:42930864:G:A p.(Arg93Trp) NC_000001.11:42930864:G:A p.(Arg93Trp) NC_000001.11:42930864:G:A Identity +NM_000176.3:c.1430G>A NP_000167.1:p.Arg477His NC_000005.10:143310134:C:T p.(Arg477His) NC_000005.10:143310134:C:T p.(Arg477His) NC_000005.10:143310134:C:T Identity +NM_000143.4:c.302G>C NP_000134.2:p.Arg101Pro NC_000001.11:241513678:C:G p.(Arg101Pro) NC_000001.11:241513678:C:G p.(Arg101Pro) NC_000001.11:241513678:C:G Identity +NM_000142.5:c.1862G>A NP_000133.1:p.Arg621His NC_000004.12:1806075:G:A p.(Arg621His) NC_000004.12:1806075:G:A p.(Arg621His) NC_000004.12:1806075:G:A Identity +NM_000138.5:c.3095G>A NP_000129.3:p.Cys1032Tyr NC_000015.10:48488480:C:T p.(Cys1032Tyr) NC_000015.10:48488480:C:T p.(Cys1032Tyr) NC_000015.10:48488480:C:T Identity +NM_000186.4:c.668AGA[1] NP_000177.2:p.Lys224del NC_000001.11:196679670:AGAAGA:AGA p.(Lys224del) NC_000001.11:196679670:A:AGA ERR:Parse ERR:Parse Identity +NM_001204425.2:c.3935T>C NP_001191354.2:p.Leu1312Pro NC_000013.11:102868151:T:C p.(Leu1312Pro) NC_000013.11:102868151:T:C p.(Leu1312Pro) NC_000013.11:102868151:T:C Identity +NM_001002294.3:c.472G>A NP_001002294.1:p.Glu158Lys NC_000001.11:171107824:G:A p.(Glu158Lys) NC_000001.11:171107824:G:A p.(Glu158Lys) NC_000001.11:171107824:G:A Identity +NM_000508.5:c.114G>C NP_000499.1:p.Arg38Ser NC_000004.12:154589502:C:G p.(Arg38Ser) NC_000004.12:154589502:C:G p.(Arg38Ser) NC_000004.12:154589502:C:G Identity +NM_000138.5:c.3793T>C NP_000129.3:p.Cys1265Arg NC_000015.10:48483862:A:G p.(Cys1265Arg) NC_000015.10:48483862:A:G p.(Cys1265Arg) NC_000015.10:48483862:A:G Identity +NM_000118.4:c.1553_1554delGC NP_000109.1:p.Ser518Thrfs NC_000009.12:127818251:GC: p.(Ser518ThrfsTer9) NC_000009.12:127818251:GC: p.(Ser518ThrfsTer9) NC_000009.12:127818251:GC: Analogous +NM_000244.4:c.1102_1104del NP_000235.3:p.Glu368del NC_000011.10:64805730:CTCCT:CT p.(Glu368del) NC_000011.10:64805730:CTCCT:CT p.(Glu368del) NC_000011.10:64805730:CTC: Identity +NM_000400.4:c.2041G>A NP_000391.1:p.Asp681Asn NC_000019.10:45352510:C:T p.(Asp681Asn) NC_000019.10:45352510:C:T p.(Asp681Asn) NC_000019.10:45352510:C:T Identity +LRG_423t1:c.991C>T LRG_423p1:p.Gln331Ter NC_000006.12:7566427:C:T ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_423t1 not found +NM_000118.4:c.1238G>T NP_000109.1:p.Gly413Val NC_000009.12:127819933:C:A p.(Gly413Val) NC_000009.12:127819933:C:A p.(Gly413Val) NC_000009.12:127819933:C:A Identity +NM_000517.6:c.223GAC[1] NP_000508.1:p.Asp76del NC_000016.10:173251:GACGAC:GAC p.(Asp76del) NC_000016.10:173251:G:GAC ERR:Parse ERR:Parse Identity +NM_000558.5:c.84G>T NP_000549.1:p.Glu28Asp NC_000016.10:176799:G:T p.(Glu28Asp) NC_000016.10:176799:G:T p.(Glu28Asp) NC_000016.10:176799:G:T Identity +NM_000558.5:c.344C>T NP_000549.1:p.Pro115Leu NC_000016.10:177325:C:T p.(Pro115Leu) NC_000016.10:177325:C:T p.(Pro115Leu) NC_000016.10:177325:C:T Identity +NM_000394.4:c.346C>T NP_000385.1:p.Arg116Cys NC_000021.9:43172103:C:T p.(Arg116Cys) NC_000021.9:43172103:C:T p.(Arg116Cys) NC_000021.9:43172103:C:T Identity +NM_000165.5:c.50A>C NP_000156.1:p.Tyr17Ser NC_000006.12:121446896:A:C p.(Tyr17Ser) NC_000006.12:121446896:A:C p.(Tyr17Ser) NC_000006.12:121446896:A:C Identity +NM_001848.3:c.841G>A NP_001839.2:p.Gly281Arg NC_000021.9:45989119:G:A p.(Gly281Arg) NC_000021.9:45989119:G:A p.(Gly281Arg) NC_000021.9:45989119:G:A Identity +NM_021954.4:c.227G>A NP_068773.2:p.Arg76His NC_000013.11:20143061:C:T p.(Arg76His) NC_000013.11:20143061:C:T p.(Arg76His) NC_000013.11:20143061:C:T Identity +NM_004004.6:c.476A>T NP_003995.2:p.Asp159Val NC_000013.11:20189105:T:A p.(Asp159Val) NC_000013.11:20189105:T:A p.(Asp159Val) NC_000013.11:20189105:T:A Identity +NM_001346850.2:c.631_634del NP_001333779.1:p.Phe211fs NC_000012.12:7067703:TTTGTTTG:TTTG p.(Phe211ValfsTer32) NC_000012.12:7067703:TTTGTTTG:TTTG p.(Phe211ValfsTer32) NC_000012.12:7067707:TTTG: Analogous +NM_001190709.2:c.2810G>T NP_001177638.1:p.Gly937Val NC_000001.11:102962749:C:A p.(Gly937Val) NC_000001.11:102962749:C:A p.(Gly937Val) NC_000001.11:102962749:C:A Identity +NM_000088.4:c.2210G>A NP_000079.2:p.Gly737Asp NC_000017.11:50191407:C:T p.(Gly737Asp) NC_000017.11:50191407:C:T p.(Gly737Asp) NC_000017.11:50191407:C:T Identity +NM_001844.5:c.2155C>T NP_001835.3:p.Arg719Cys NC_000012.12:47982885:G:A p.(Arg719Cys) NC_000012.12:47982885:G:A p.(Arg719Cys) NC_000012.12:47982885:G:A Identity +NM_000092.5:c.3601G>A NP_000083.3:p.Gly1201Ser NC_000002.12:227032252:C:T p.(Gly1201Ser) NC_000002.12:227032252:C:T p.(Gly1201Ser) NC_000002.12:227032252:C:T Identity +NM_000094.4:c.6752G>A NP_000085.1:p.Gly2251Glu NC_000003.12:48572940:C:T p.(Gly2251Glu) NC_000003.12:48572940:C:T p.(Gly2251Glu) NC_000003.12:48572940:C:T Identity +NM_000090.4:c.746G>A NP_000081.2:p.Gly249Asp NC_000002.12:188990307:G:A p.(Gly249Asp) NC_000002.12:188990307:G:A p.(Gly249Asp) NC_000002.12:188990307:G:A Identity +NM_000088.4:c.761G>A NP_000079.2:p.Gly254Glu NC_000017.11:50197052:C:T p.(Gly254Glu) NC_000017.11:50197052:C:T p.(Gly254Glu) NC_000017.11:50197052:C:T Identity +NM_001025201.4:c.590C>T NP_001020372.2:p.Ala197Val NC_000002.12:174824477:G:A p.(Ala197Val) NC_000002.12:174824477:G:A p.(Ala197Val) NC_000002.12:174824477:G:A Identity +NM_004048.4:c.31G>C NP_004039.1:p.Ala11Pro NC_000015.10:44711576:G:C p.(Ala11Pro) NC_000015.10:44711576:G:C p.(Ala11Pro) NC_000015.10:44711576:G:C Identity +NM_001681.4:c.322C>T NP_001672.1:p.Gln108Ter NC_000012.12:110292121:C:T p.(Gln108Ter) NC_000012.12:110292121:C:T p.(Gln108Ter) NC_000012.12:110292121:C:T Identity +NM_001232.4:c.919G>C NP_001223.2:p.Asp307His NC_000001.11:115705211:C:G p.(Asp307His) NC_000001.11:115705211:C:G p.(Asp307His) NC_000001.11:115705211:C:G Identity +NM_000083.3:c.689G>A NP_000074.3:p.Gly230Glu NC_000007.14:143321840:G:A p.(Gly230Glu) NC_000007.14:143321840:G:A p.(Gly230Glu) NC_000007.14:143321840:G:A Identity +NM_001098209.2:c.101G>T NP_001091679.1:p.Gly34Val NC_000003.12:41224612:G:T p.(Gly34Val) NC_000003.12:41224612:G:T p.(Gly34Val) NC_000003.12:41224612:G:T Identity +NM_001025194.2:c.425G>A NP_001020365.1:p.Gly142Glu NC_000016.10:55823660:C:T p.(Gly142Glu) NC_000016.10:55823660:C:T p.(Gly142Glu) NC_000016.10:55823660:C:T Identity +NM_000069.3:c.1583G>A NP_000060.2:p.Arg528His NC_000001.11:201077914:C:T p.(Arg528His) NC_000001.11:201077914:C:T p.(Arg528His) NC_000001.11:201077914:C:T Identity +NM_000719.7:c.1216G>A NP_000710.5:p.Gly406Arg NC_000012.12:2504943:G:A p.(Gly406Arg) NC_000012.12:2504943:G:A p.(Gly406Arg) NC_000012.12:2504943:G:A Identity +NM_000043.6:c.763A>G NP_000034.1:p.Asn255Asp NC_000010.11:89014204:A:G p.(Asn255Asp) NC_000010.11:89014204:A:G p.(Asn255Asp) NC_000010.11:89014204:A:G Identity +NM_000103.4:c.628G>A NP_000094.2:p.Glu210Lys NC_000015.10:51222348:C:T p.(Glu210Lys) NC_000015.10:51222348:C:T p.(Glu210Lys) NC_000015.10:51222348:C:T Identity +NM_000486.6:c.377C>T NP_000477.1:p.Thr126Met NC_000012.12:49954170:C:T p.(Thr126Met) NC_000012.12:49954170:C:T p.(Thr126Met) NC_000012.12:49954170:C:T Identity +NM_001972.4:c.214G>A NP_001963.1:p.Val72Met NC_000019.10:853021:G:A p.(Val72Met) NC_000019.10:853021:G:A p.(Val72Met) NC_000019.10:853021:G:A Identity +NM_001008844.3:c.88G>A NP_001008844.1:p.Val30Met NC_000006.12:7542002:G:A p.(Val30Met) NC_000006.12:7542002:G:A p.(Val30Met) NC_000006.12:7542002:G:A Identity +NM_000039.3:c.101G>T NP_000030.1:p.Arg34Leu NC_000011.10:116837099:C:A p.(Arg34Leu) NC_000011.10:116837099:C:A p.(Arg34Leu) NC_000011.10:116837099:C:A Identity +NM_000295.5:c.374G>A NP_000286.3:p.Arg125His NC_000014.9:94382863:C:T p.(Arg125His) NC_000014.9:94382863:C:T p.(Arg125His) NC_000014.9:94382863:C:T Identity +NM_001127493.3:c.5509G>A NP_001120965.1:p.Glu1837Lys NC_000004.12:113373380:G:A p.(Glu1837Lys) NC_000004.12:113373380:G:A p.(Glu1837Lys) NC_000004.12:113373380:G:A Identity +NM_000477.7:c.1033G>A NP_000468.1:p.Glu345Lys NC_000004.12:73413608:G:A p.(Glu345Lys) NC_000004.12:73413608:G:A p.(Glu345Lys) NC_000004.12:73413608:G:A Identity +NM_000476.3:c.139del NP_000467.1:p.Val47fs NC_000009.12:127872757:CC:C p.(Val47SerfsTer45) NC_000009.12:127872757:CC:C p.(Val47SerfsTer45) NC_000009.12:127872757:C: Analogous +NM_000477.7:c.1573G>A NP_000468.1:p.Glu525Lys NC_000004.12:73418231:G:A p.(Glu525Lys) NC_000004.12:73418231:G:A p.(Glu525Lys) NC_000004.12:73418231:G:A Identity +NM_000477.7:c.316G>A NP_000468.1:p.Glu106Lys NC_000004.12:73408638:G:A p.(Glu106Lys) NC_000004.12:73408638:G:A p.(Glu106Lys) NC_000004.12:73408638:G:A Identity +NM_024592.5:c.286_288delinsTGAGTAAGGC NP_078868.1:p.Gln96Ter NC_000004.12:55359409:CAA:TGAGTAAGGC p.(Gln96Ter) NC_000004.12:55359409:CAA:TGAGTAAGGC p.(Gln96Ter) NC_000004.12:55359409:CAA:TGAGTAAGGC Identity +NM_014053.4:c.574T>C NP_054772.1:p.Cys192Arg NC_000001.11:212859025:T:C p.(Cys192Arg) NC_000001.11:212859025:T:C p.(Cys192Arg) NC_000001.11:212859025:T:C Identity +NM_001317184.2:c.1008G>T NP_001304113.1:p.Glu336Asp NC_000016.10:68811858:G:T p.(Glu336Asp) NC_000016.10:68811858:G:T p.(Glu336Asp) NC_000016.10:68811858:G:T Identity +LRG_155t1:c.718T>C LRG_155p1:p.Ser240Pro NC_000001.11:207767056:T:C ERR:Data provider error: ValueError: Transcript LRG_155t1 not found ERR:Data provider error: ValueError: Transcript LRG_155t1 not found ERR:AlignmentMapper(tx_ac=LRG_155t1, alt_ac=LRG_155t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_155t1, alt_ac=LRG_155t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_155t1 not found +NM_001190892.1:c.643C>T NP_001177821.1:p.Arg215Cys NC_000020.11:1980444:G:A p.(Arg215Cys) NC_000020.11:1980444:G:A p.(Arg215Cys) NC_000020.11:1980444:G:A Identity +NM_000083.3:c.803C>T NP_000074.3:p.Thr268Met NC_000007.14:143324441:C:T p.(Thr268Met) NC_000007.14:143324441:C:T p.(Thr268Met) NC_000007.14:143324441:C:T Identity +NM_000346.4:c.1320C>A NP_000337.1:p.Tyr440Ter NC_000017.11:72124176:C:A p.(Tyr440Ter) NC_000017.11:72124176:C:A p.(Tyr440Ter) NC_000017.11:72124176:C:A Identity +NM_000088.4:c.1598G>A NP_000079.2:p.Gly533Asp NC_000017.11:50194364:C:T p.(Gly533Asp) NC_000017.11:50194364:C:T p.(Gly533Asp) NC_000017.11:50194364:C:T Identity +NM_001844.5:c.2710C>T NP_001835.3:p.Arg904Cys NC_000012.12:47979533:G:A p.(Arg904Cys) NC_000012.12:47979533:G:A p.(Arg904Cys) NC_000012.12:47979533:G:A Identity +NM_000748.3:c.859G>C NP_000739.1:p.Val287Leu NC_000001.11:154571681:G:C p.(Val287Leu) NC_000001.11:154571681:G:C p.(Val287Leu) NC_000001.11:154571681:G:C Identity +NM_000083.3:c.1238T>G NP_000074.3:p.Phe413Cys NC_000007.14:143332489:T:G p.(Phe413Cys) NC_000007.14:143332489:T:G p.(Phe413Cys) NC_000007.14:143332489:T:G Identity +NM_004525.3:c.9358_9359del NP_004516.2:p.Ser3120fs NC_000002.12:169185988:CT: p.(Ser3120TrpfsTer26) NC_000002.12:169185988:CT: p.(Ser3120TrpfsTer26) NC_000002.12:169185988:CT: Analogous +NM_001206846.2:c.4435C>T NP_001193775.1:p.Arg1479Ter NC_000001.11:197093155:G:A p.(Arg1479Ter) NC_000001.11:197093155:G:A p.(Arg1479Ter) NC_000001.11:197093155:G:A Identity +NM_001164317.2:c.442T>A NP_001157789.1:p.Trp148Arg NC_000003.12:58077194:T:A p.(Trp148Arg) NC_000003.12:58077194:T:A p.(Trp148Arg) NC_000003.12:58077194:T:A Identity +NM_001164317.2:c.7122T>G NP_001157789.1:p.Tyr2374Ter NC_000003.12:58163160:T:G p.(Tyr2374Ter) NC_000003.12:58163160:T:G p.(Tyr2374Ter) NC_000003.12:58163160:T:G Identity +NM_001164277.2:c.1099G>A NP_001157749.1:p.Ala367Thr NC_000011.10:119025214:C:T p.(Ala367Thr) NC_000011.10:119025214:C:T p.(Ala367Thr) NC_000011.10:119025214:C:T Identity +NM_001384158.1:c.1213G>T NP_001371087.1:p.Asp405Tyr NC_000014.9:91877581:C:A p.(Asp405Tyr) NC_000014.9:91877581:C:A p.(Asp405Tyr) NC_000014.9:91877581:C:A Identity +NM_001206846.2:c.5304C>A NP_001193775.1:p.Tyr1768Ter NC_000001.11:197088357:G:T p.(Tyr1768Ter) NC_000001.11:197088357:G:T p.(Tyr1768Ter) NC_000001.11:197088357:G:T Identity +NM_001206846.2:c.3710C>G NP_001193775.1:p.Ser1237Ter NC_000001.11:197122189:G:C p.(Ser1237Ter) NC_000001.11:197122189:G:C p.(Ser1237Ter) NC_000001.11:197122189:G:C Identity +NM_000550.3:c.1120C>T NP_000541.1:p.Arg374Ter NC_000009.12:12704563:C:T p.(Arg374Ter) NC_000009.12:12704563:C:T p.(Arg374Ter) NC_000009.12:12704563:C:T Identity +NM_001039132.3:c.299A>G NP_001034221.1:p.Gln100Arg NC_000019.10:10287310:A:G p.(Gln100Arg) NC_000019.10:10287310:A:G p.(Gln100Arg) NC_000019.10:10287310:A:G Identity +NM_031226.3:c.1303C>T NP_112503.1:p.Arg435Cys NC_000015.10:51211016:G:A p.(Arg435Cys) NC_000015.10:51211016:G:A p.(Arg435Cys) NC_000015.10:51211016:G:A Identity +NM_024577.4:c.2710C>T NP_078853.2:p.Arg904Ter NC_000005.10:149027021:G:A p.(Arg904Ter) NC_000005.10:149027021:G:A p.(Arg904Ter) NC_000005.10:149027021:G:A Identity +NM_000495.5:c.1276G>A NP_000486.1:p.Gly426Arg NC_000023.11:108591167:G:A p.(Gly426Arg) NC_000023.11:108591167:G:A p.(Gly426Arg) NC_000023.11:108591167:G:A Identity +NM_001206846.2:c.2967G>A NP_001193775.1:p.Trp989Ter NC_000001.11:197125160:C:T p.(Trp989Ter) NC_000001.11:197125160:C:T p.(Trp989Ter) NC_000001.11:197125160:C:T Identity +NM_032520.5:c.619_620insT NP_115909.1:p.Lys207fs NC_000016.10:1362620::T p.(Lys207IlefsTer8) NC_000016.10:1362619:A:T p.(Lys207IlefsTer8) NC_000016.10:1362620:AA:T Analogous +NM_000041.4:c.683G>A NP_000032.1:p.Trp228Ter NC_000019.10:44908978:G:A p.(Trp228Ter) NC_000019.10:44908978:G:A p.(Trp228Ter) NC_000019.10:44908978:G:A Identity +NM_000488.4:c.482G>A NP_000479.1:p.Arg161Gln NC_000001.11:173911940:C:T p.(Arg161Gln) NC_000001.11:173911940:C:T p.(Arg161Gln) NC_000001.11:173911940:C:T Identity +NM_000155.4:c.575G>A NP_000146.2:p.Ser192Asn NC_000009.12:34648343:G:A p.(Ser192Asn) NC_000009.12:34648343:G:A p.(Ser192Asn) NC_000009.12:34648343:G:A Identity +NM_000495.5:c.49_50del NP_000486.1:p.Leu17fs NC_000023.11:108440173:CT: p.(Leu17GlufsTer22) NC_000023.11:108440173:CT: p.(Leu17GlufsTer22) NC_000023.11:108440173:CT: Analogous +NM_000495.5:c.4675C>G NP_000486.1:p.Pro1559Ala NC_000023.11:108692911:C:G p.(Pro1559Ala) NC_000023.11:108692911:C:G p.(Pro1559Ala) NC_000023.11:108692911:C:G Identity +NM_000323.2:c.1858T>G NP_000314.1:p.Cys620Gly NC_000010.11:43113653:T:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000155.4:c.983G>A NP_000146.2:p.Arg328His NC_000009.12:34649487:G:A p.(Arg328His) NC_000009.12:34649487:G:A p.(Arg328His) NC_000009.12:34649487:G:A Identity +NM_000477.7:c.259G>A NP_000468.1:p.Asp87Asn NC_000004.12:73406749:G:A p.(Asp87Asn) NC_000004.12:73406749:G:A p.(Asp87Asn) NC_000004.12:73406749:G:A Identity +NM_001100.4:c.350A>G NP_001091.1:p.Asn117Ser NC_000001.11:229432659:T:C p.(Asn117Ser) NC_000001.11:229432659:T:C p.(Asn117Ser) NC_000001.11:229432659:T:C Identity +NM_000155.4:c.524G>A NP_000146.2:p.Gly175Asp NC_000009.12:34648130:G:A p.(Gly175Asp) NC_000009.12:34648130:G:A p.(Gly175Asp) NC_000009.12:34648130:G:A Identity +NM_000155.4:c.691C>T NP_000146.2:p.Arg231Cys NC_000009.12:34648764:C:T p.(Arg231Cys) NC_000009.12:34648764:C:T p.(Arg231Cys) NC_000009.12:34648764:C:T Identity +NM_001308122.2:c.797G>T NP_001295051.1:p.Gly266Val NC_000005.10:132385399:G:T p.(Gly266Val) NC_000005.10:132385399:G:T p.(Gly266Val) NC_000005.10:132385399:G:T Identity +NM_001681.4:c.2093C>T NP_001672.1:p.Ala698Val NC_000012.12:110340989:C:T p.(Ala698Val) NC_000012.12:110340989:C:T p.(Ala698Val) NC_000012.12:110340989:C:T Identity +NM_000094.4:c.4565G>A NP_000085.1:p.Gly1522Glu NC_000003.12:48582511:C:T p.(Gly1522Glu) NC_000003.12:48582511:C:T p.(Gly1522Glu) NC_000003.12:48582511:C:T Identity +NM_000155.4:c.752A>C NP_000146.2:p.Tyr251Ser NC_000009.12:34648825:A:C p.(Tyr251Ser) NC_000009.12:34648825:A:C p.(Tyr251Ser) NC_000009.12:34648825:A:C Identity +NM_001846.4:c.3455G>A NP_001837.2:p.Gly1152Asp NC_000013.11:110492069:G:A p.(Gly1152Asp) NC_000013.11:110492069:G:A p.(Gly1152Asp) NC_000013.11:110492069:G:A Identity +NM_001258040.3:c.1241A>C NP_001244969.1:p.Tyr414Ser NC_000005.10:140674775:T:G p.(Tyr414Ser) NC_000005.10:140674775:T:G p.(Tyr414Ser) NC_000005.10:140674775:T:G Identity +NM_000079.4:c.866G>T NP_000070.1:p.Ser289Ile NC_000002.12:174750081:C:A p.(Ser289Ile) NC_000002.12:174750081:C:A p.(Ser289Ile) NC_000002.12:174750081:C:A Identity +NM_139125.4:c.2059G>A NP_624302.1:p.Gly687Arg NC_000003.12:187235811:C:T p.(Gly687Arg) NC_000003.12:187235811:C:T p.(Gly687Arg) NC_000003.12:187235811:C:T Identity +NM_001163817.2:c.506C>T NP_001157289.1:p.Ser169Leu NC_000011.10:71441346:G:A p.(Ser169Leu) NC_000011.10:71441346:G:A p.(Ser169Leu) NC_000011.10:71441346:G:A Identity +NM_001321027.2:c.588T>G NP_001307956.1:p.His196Gln NC_000010.11:4995769:A:C p.(His196Gln) NC_000010.11:4995769:A:C p.(His196Gln) NC_000010.11:4995769:A:C Identity +NM_000891.3:c.913A>C NP_000882.1:p.Thr305Pro NC_000017.11:70175951:A:C p.(Thr305Pro) NC_000017.11:70175951:A:C p.(Thr305Pro) NC_000017.11:70175951:A:C Identity +NM_001289395.2:c.1039C>T NP_001276324.1:p.Arg347Trp NC_000006.12:35503762:G:A p.(Arg347Trp) NC_000006.12:35503762:G:A p.(Arg347Trp) NC_000006.12:35503762:G:A Identity +NM_001301031.1:c.1613_1614del NP_001287960.1:p.Phe538fs NC_000015.10:65625691:TTT:T p.(Phe538CysfsTer23) NC_000015.10:65625691:TTT:T p.(Phe538CysfsTer23) NC_000015.10:65625692:TT: Analogous +NM_001289395.2:c.943G>T NP_001276324.1:p.Gly315Trp NC_000006.12:35505750:C:A p.(Gly315Trp) NC_000006.12:35505750:C:A p.(Gly315Trp) NC_000006.12:35505750:C:A Identity +NM_006446.5:c.1738C>T NP_006437.3:p.Arg580Ter NC_000012.12:21222354:C:T p.(Arg580Ter) NC_000012.12:21222354:C:T p.(Arg580Ter) NC_000012.12:21222354:C:T Identity +NM_001322019.2:c.425A>G NP_001308948.1:p.Gln142Arg NC_000002.12:240021231:T:C p.(Gln142Arg) NC_000002.12:240021231:T:C p.(Gln142Arg) NC_000002.12:240021231:T:C Identity +NM_001172574.2:c.147C>G NP_001166045.2:p.His49Gln NC_000008.11:6414796:C:G p.(His49Gln) NC_000008.11:6414796:C:G p.(His49Gln) NC_000008.11:6414796:C:G Identity +NM_133261.3:c.565C>T NP_573568.1:p.Arg189Cys NC_000019.10:3586966:C:T p.(Arg189Cys) NC_000019.10:3586966:C:T p.(Arg189Cys) NC_000019.10:3586966:C:T Identity +NM_001166158.2:c.44G>A NP_001159630.1:p.Arg15His NC_000011.10:34916698:G:A p.(Arg15His) NC_000011.10:34916698:G:A p.(Arg15His) NC_000011.10:34916698:G:A Identity +NM_001379081.2:c.2097_2100del NP_001366010.1:p.Lys699fs NC_000009.12:14824093:TAATT:T p.(Lys699AsnfsTer10) NC_000009.12:14824093:TAATT:T p.(Lys699AsnfsTer10) NC_000009.12:14824093:TAAT: Analogous +NM_001365212.1:c.1672C>T NP_001352141.1:p.Arg558Trp NC_000001.11:173857591:C:T p.(Arg558Trp) NC_000001.11:173857591:C:T p.(Arg558Trp) NC_000001.11:173857591:C:T Identity +NM_001204831.3:c.1529T>G NP_001191760.1:p.Leu510Arg NC_000003.12:43555416:A:C p.(Leu510Arg) NC_000003.12:43555416:A:C p.(Leu510Arg) NC_000003.12:43555416:A:C Identity +NM_001127214.4:c.593T>G NP_001120686.1:p.Met198Arg NC_000016.10:89101273:T:G p.(Met198Arg) NC_000016.10:89101273:T:G p.(Met198Arg) NC_000016.10:89101273:T:G Identity +NM_001031679.3:c.244T>G NP_001026849.1:p.Cys82Gly NC_000012.12:65328583:T:G p.(Cys82Gly) NC_000012.12:65328583:T:G p.(Cys82Gly) NC_000012.12:65328583:T:G Identity +NM_198525.3:c.3001C>T NP_940927.2:p.Gln1001Ter NC_000015.10:89631604:G:A p.(Gln1001Ter) NC_000015.10:89631604:G:A p.(Gln1001Ter) NC_000015.10:89631604:G:A Identity +NM_001145320.2:c.661C>T NP_001138792.1:p.Arg221Cys NC_000009.12:133540979:C:T p.(Arg221Cys) NC_000009.12:133540979:C:T p.(Arg221Cys) NC_000009.12:133540979:C:T Identity +LRG_1124t1:c.680C>T LRG_1124p1:p.Ala227Val NC_000017.11:8237486:G:A ERR:Data provider error: ValueError: Transcript LRG_1124t1 not found ERR:Data provider error: ValueError: Transcript LRG_1124t1 not found ERR:AlignmentMapper(tx_ac=LRG_1124t1, alt_ac=LRG_1124t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1124t1, alt_ac=LRG_1124t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1124t1 not found +NM_001300823.2:c.320A>G NP_001287752.1:p.Tyr107Cys NC_000004.12:120821325:T:C p.(Tyr107Cys) NC_000004.12:120821325:T:C p.(Tyr107Cys) NC_000004.12:120821325:T:C Identity +NM_024110.4:c.413A>C NP_077015.2:p.Glu138Ala NC_000017.11:80183975:A:C p.(Glu138Ala) NC_000017.11:80183975:A:C p.(Glu138Ala) NC_000017.11:80183975:A:C Identity +NM_001363725.2:c.3502del NP_001350654.1:p.Asp1168fs NC_000006.12:157206772:G: p.(Asp1168MetfsTer96) NC_000006.12:157206772:G: p.(Asp1168MetfsTer96) NC_000006.12:157206772:G: Analogous +NM_001206741.2:c.561G>T NP_001193670.1:p.Lys187Asn NC_000001.11:209732478:G:T p.(Lys187Asn) NC_000001.11:209732478:G:T p.(Lys187Asn) NC_000001.11:209732478:G:T Identity +NM_001363676.1:c.279C>G NP_001350605.1:p.Phe93Leu NC_000007.14:157367415:C:G p.(Phe93Leu) NC_000007.14:157367415:C:G p.(Phe93Leu) NC_000007.14:157367415:C:G Identity +NM_001321038.2:c.1661C>A NP_001307967.1:p.Ser554Ter NC_000001.11:108924059:C:A p.(Ser554Ter) NC_000001.11:108924059:C:A p.(Ser554Ter) NC_000001.11:108924059:C:A Identity +NM_000033.4:c.838C>T NP_000024.2:p.Arg280Cys NC_000023.11:153726103:C:T p.(Arg280Cys) NC_000023.11:153726103:C:T p.(Arg280Cys) NC_000023.11:153726103:C:T Identity +NM_018136.5:c.7860_7861del NP_060606.3:p.Gln2620fs NC_000001.11:197101389:TCT:T p.(Gln2620HisfsTer16) NC_000001.11:197101389:TCT:T p.(Gln2620HisfsTer16) NC_000001.11:197101389:TC: Analogous +NM_018848.3:c.873_876dup NP_061336.1:p.Cys293fs NC_000020.11:10412638:CAGG:CAGGCAGG p.(Cys293ProfsTer35) NC_000020.11:10412638:CAGG:CAGGCAGG p.(Cys293ProfsTer35) ERR:SPDI Analogous +NM_004518.6:c.1A>G NP_004509.2:p.Met1Val NC_000020.11:63472462:T:C p.(Met1Val) NC_000020.11:63472462:T:C p.Met1? NC_000020.11:63472462:T:C Identity +NM_001287489.2:c.2887C>T NP_001274418.1:p.Arg963Ter NC_000002.12:26476017:G:A p.(Arg963Ter) NC_000002.12:26476017:G:A p.(Arg963Ter) NC_000002.12:26476017:G:A Identity +NM_000492.4:c.853A>T NP_000483.3:p.Ile285Phe NC_000007.14:117536656:A:T p.(Ile285Phe) NC_000007.14:117536656:A:T p.(Ile285Phe) NC_000007.14:117536656:A:T Identity +NM_000089.4:c.2827G>A NP_000080.2:p.Gly943Arg NC_000007.14:94425654:G:A p.(Gly943Arg) NC_000007.14:94425654:G:A p.(Gly943Arg) NC_000007.14:94425654:G:A Identity +NM_000492.4:c.2932A>T NP_000483.3:p.Lys978Ter NC_000007.14:117606696:A:T p.(Lys978Ter) NC_000007.14:117606696:A:T p.(Lys978Ter) NC_000007.14:117606696:A:T Identity +NM_000089.4:c.677G>A NP_000080.2:p.Gly226Asp NC_000007.14:94408219:G:A p.(Gly226Asp) NC_000007.14:94408219:G:A p.(Gly226Asp) NC_000007.14:94408219:G:A Identity +NM_004949.5:c.2194T>G NP_004940.1:p.Leu732Val NC_000018.10:31070781:A:C p.(Leu732Val) NC_000018.10:31070781:A:C p.(Leu732Val) NC_000018.10:31070781:A:C Identity +NM_000138.5:c.3560A>G NP_000129.3:p.His1187Arg NC_000015.10:48487103:T:C p.(His1187Arg) NC_000015.10:48487103:T:C p.(His1187Arg) NC_000015.10:48487103:T:C Identity +NM_000138.5:c.5671G>C NP_000129.3:p.Asp1891His NC_000015.10:48448767:C:G p.(Asp1891His) NC_000015.10:48448767:C:G p.(Asp1891His) NC_000015.10:48448767:C:G Identity +NM_000162.5:c.947T>A NP_000153.1:p.Phe316Tyr NC_000007.14:44146534:A:T p.(Phe316Tyr) NC_000007.14:44146534:A:T p.(Phe316Tyr) NC_000007.14:44146534:A:T Identity +NM_000518.5:c.251del NP_000509.1:p.Gly84fs NC_000011.10:5226640:CCC:CC p.(Gly84AlafsTer6) NC_000011.10:5226640:CCC:CC p.(Gly84AlafsTer6) NC_000011.10:5226640:C: Analogous +NM_000162.5:c.615C>G NP_000153.1:p.Asp205Glu NC_000007.14:44149823:G:C p.(Asp205Glu) NC_000007.14:44149823:G:C p.(Asp205Glu) NC_000007.14:44149823:G:C Identity +NM_000198.4:c.707T>C NP_000189.1:p.Leu236Ser NC_000001.11:119422207:T:C p.(Leu236Ser) NC_000001.11:119422207:T:C p.(Leu236Ser) NC_000001.11:119422207:T:C Identity +NM_005912.3:c.806T>A NP_005903.2:p.Ile269Asn NC_000018.10:60371543:A:T p.(Ile269Asn) NC_000018.10:60371543:A:T p.(Ile269Asn) NC_000018.10:60371543:A:T Identity +NM_000448.3:c.2603C>T NP_000439.2:p.Ala868Val NC_000011.10:36575906:C:T p.(Ala868Val) NC_000011.10:36575906:C:T p.(Ala868Val) NC_000011.10:36575906:C:T Identity +NM_000545.8:c.965A>G NP_000536.6:p.Tyr322Cys NC_000012.12:120996270:A:G p.(Tyr322Cys) NC_000012.12:120996270:A:G p.(Tyr322Cys) NC_000012.12:120996270:A:G Identity +NM_000377.3:c.538C>A NP_000368.1:p.His180Asn NC_000023.11:48686112:C:A p.(His180Asn) NC_000023.11:48686112:C:A p.(His180Asn) NC_000023.11:48686112:C:A Identity +NM_001167961.2:c.280C>T NP_001161433.1:p.Arg94Trp NC_000007.14:66633409:C:T p.(Arg94Trp) NC_000007.14:66633409:C:T p.(Arg94Trp) NC_000007.14:66633409:C:T Identity +NM_001035.3:c.3251G>A NP_001026.2:p.Arg1084Lys NC_000001.11:237566602:G:A p.(Arg1084Lys) NC_000001.11:237566602:G:A p.(Arg1084Lys) NC_000001.11:237566602:G:A Identity +NM_000545.8:c.169del NP_000536.6:p.Leu57fs NC_000012.12:120978936:C: p.(Leu57TrpfsTer98) NC_000012.12:120978936:C: p.(Leu57TrpfsTer98) NC_000012.12:120978936:C: Analogous +NM_024334.3:c.934C>T NP_077310.1:p.Arg312Trp NC_000003.12:14139230:C:T p.(Arg312Trp) NC_000003.12:14139230:C:T p.(Arg312Trp) NC_000003.12:14139230:C:T Identity +NM_003000.3:c.32G>A NP_002991.2:p.Arg11His NC_000001.11:17053987:C:T p.(Arg11His) NC_000001.11:17053987:C:T p.(Arg11His) NC_000001.11:17053987:C:T Identity +NM_001135599.4:c.771C>A NP_001129071.1:p.Cys257Ter NC_000001.11:218434380:C:A p.(Cys257Ter) NC_000001.11:218434380:C:A p.(Cys257Ter) NC_000001.11:218434380:C:A Identity +NM_001297778.1:c.710G>T NP_001284707.1:p.Arg237Leu NC_000001.11:9982570:G:T p.(Arg237Leu) NC_000001.11:9982570:G:T p.(Arg237Leu) NC_000001.11:9982570:G:T Identity +NM_005732.4:c.1663A>G NP_005723.2:p.Ile555Val NC_000005.10:132591903:A:G p.(Ile555Val) NC_000005.10:132591903:A:G p.(Ile555Val) NC_000005.10:132591903:A:G Identity +NM_001154458.3:c.266C>T NP_001147930.1:p.Thr89Met NC_000016.10:4786005:G:A p.(Thr89Met) NC_000016.10:4786005:G:A p.(Thr89Met) NC_000016.10:4786005:G:A Identity +NM_005340.7:c.266G>T NP_005331.1:p.Gly89Val NC_000005.10:131159561:C:A p.(Gly89Val) NC_000005.10:131159561:C:A p.(Gly89Val) NC_000005.10:131159561:C:A Identity +NM_001407649.1:c.1717TCT[1] NP_001394578.1:p.Ser574del NC_000017.11:43093682:AGAAGA:AGA p.(Ser574del) NC_000017.11:43093687:A:AGA ERR:Parse ERR:Parse Identity +NM_001407955.1:c.785del NP_001394884.1:p.Thr262fs NC_000017.11:43094409:G: p.(Thr262AsnfsTer2) NC_000017.11:43094409:G: p.(Thr262AsnfsTer2) NC_000017.11:43094409:G: Analogous +NM_000059.4:c.971G>C NP_000050.3:p.Arg324Thr NC_000013.11:32332448:G:C p.(Arg324Thr) NC_000013.11:32332448:G:C p.(Arg324Thr) NC_000013.11:32332448:G:C Identity +NM_024312.5:c.3613C>T NP_077288.2:p.Arg1205Ter NC_000012.12:101749180:G:A p.(Arg1205Ter) NC_000012.12:101749180:G:A p.(Arg1205Ter) NC_000012.12:101749180:G:A Identity +NM_000060.4:c.1394dup NP_000051.1:p.Leu466Serfs NC_000003.12:15645245:GGGGG:GGGGGG ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_024312.5:c.2089dup NP_077288.2:p.Leu697fs NC_000012.12:101764827:GGGG:GGGGG p.(Leu697ProfsTer51) NC_000012.12:101764827:GGGG:GGGGG p.(Leu697ProfsTer51) ERR:SPDI Analogous +NM_198578.4:c.4229C>T NP_940980.4:p.Thr1410Met NC_000012.12:40309144:C:T p.(Thr1410Met) NC_000012.12:40309144:C:T p.(Thr1410Met) NC_000012.12:40309144:C:T Identity +NM_198578.4:c.5606T>C NP_940980.4:p.Met1869Thr NC_000012.12:40323255:T:C p.(Met1869Thr) NC_000012.12:40323255:T:C p.(Met1869Thr) NC_000012.12:40323255:T:C Identity +NM_198578.4:c.5620G>T NP_940980.4:p.Glu1874Ter NC_000012.12:40323269:G:T p.(Glu1874Ter) NC_000012.12:40323269:G:T p.(Glu1874Ter) NC_000012.12:40323269:G:T Identity +NM_198578.4:c.683G>C NP_940980.4:p.Cys228Ser NC_000012.12:40240593:G:C p.(Cys228Ser) NC_000012.12:40240593:G:C p.(Cys228Ser) NC_000012.12:40240593:G:C Identity +NM_001321961.2:c.220G>C NP_001308890.1:p.Ala74Pro NC_000008.11:132656865:C:G p.(Ala74Pro) NC_000008.11:132656865:C:G p.(Ala74Pro) NC_000008.11:132656865:C:G Identity +NM_000155.4:c.626A>C NP_000146.2:p.Tyr209Ser NC_000009.12:34648394:A:C p.(Tyr209Ser) NC_000009.12:34648394:A:C p.(Tyr209Ser) NC_000009.12:34648394:A:C Identity +NM_001407571.1:c.448G>T NP_001394500.1:p.Ala150Ser NC_000017.11:43095854:C:A p.(Ala150Ser) NC_000017.11:43095854:C:A p.(Ala150Ser) NC_000017.11:43095854:C:A Identity +NM_000059.4:c.1813del NP_000050.3:p.Ile605fs NC_000013.11:32333283:AAAAAAAA:AAAAAAA p.(Ile605TyrfsTer9) NC_000013.11:32333283:AAAAAAAA:AAAAAAA p.(Ile605TyrfsTer9) NC_000013.11:32333290:A: Analogous +NM_001407685.1:c.2351C>A NP_001394614.1:p.Thr784Lys NC_000017.11:43093053:G:T p.(Thr784Lys) NC_000017.11:43093053:G:T p.(Thr784Lys) NC_000017.11:43093053:G:T Identity +NM_001407605.1:c.427G>A NP_001394534.1:p.Glu143Lys NC_000017.11:43104135:C:T p.(Glu143Lys) NC_000017.11:43104135:C:T p.(Glu143Lys) NC_000017.11:43104135:C:T Identity +NM_000059.4:c.6024dup NP_000050.3:p.Gln2009fs NC_000013.11:32340378:G:GG p.(Gln2009AlafsTer9) NC_000013.11:32340378:G:GG p.(Gln2009AlafsTer9) ERR:SPDI Analogous +LRG_256t1:c.306del LRG_256p1:p.Asp104ThrfsTer14 NC_000001.11:161306849:T: ERR:Data provider error: ValueError: Transcript LRG_256t1 not found ERR:Data provider error: ValueError: Transcript LRG_256t1 not found ERR:AlignmentMapper(tx_ac=LRG_256t1, alt_ac=LRG_256t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_256t1, alt_ac=LRG_256t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_256t1 not found +NM_000059.4:c.3916G>A NP_000050.3:p.Val1306Ile NC_000013.11:32338270:G:A p.(Val1306Ile) NC_000013.11:32338270:G:A p.(Val1306Ile) NC_000013.11:32338270:G:A Identity +NM_000059.4:c.5266_5269del NP_000050.3:p.Val1756fs NC_000013.11:32339620:GTAT: p.(Val1756IlefsTer20) NC_000013.11:32339620:GTAT: p.(Val1756IlefsTer20) NC_000013.11:32339620:GTAT: Analogous +NM_000059.4:c.7567_7568del NP_000050.3:p.Leu2523fs NC_000013.11:32356553:TCTCTCT:TCTCT p.(Leu2523GlufsTer15) NC_000013.11:32356553:TCTCTCT:TCTCT p.(Leu2523GlufsTer15) NC_000013.11:32356558:CT: Analogous +NM_000059.4:c.8300C>G NP_000050.3:p.Pro2767Arg NC_000013.11:32363501:C:G p.(Pro2767Arg) NC_000013.11:32363501:C:G p.(Pro2767Arg) NC_000013.11:32363501:C:G Identity +NM_000059.4:c.8350C>T NP_000050.3:p.Arg2784Trp NC_000013.11:32370419:C:T p.(Arg2784Trp) NC_000013.11:32370419:C:T p.(Arg2784Trp) NC_000013.11:32370419:C:T Identity +NM_000059.4:c.8647C>T NP_000050.3:p.Pro2883Ser NC_000013.11:32376683:C:T p.(Pro2883Ser) NC_000013.11:32376683:C:T p.(Pro2883Ser) NC_000013.11:32376683:C:T Identity +NM_000426.4:c.7881T>G NP_000417.3:p.His2627Gln NC_000006.12:129486604:T:G p.(His2627Gln) NC_000006.12:129486604:T:G p.(His2627Gln) NC_000006.12:129486604:T:G Identity +NM_002769.5:c.86A>C NP_002760.1:p.Asn29Thr NC_000007.14:142750599:A:C p.(Asn29Thr) NC_000007.14:142750599:A:C p.(Asn29Thr) NC_000007.14:142750599:A:C Identity +NM_001288705.3:c.2381T>C NP_001275634.1:p.Ile794Thr NC_000005.10:150056279:A:G p.(Ile794Thr) NC_000005.10:150056279:A:G p.(Ile794Thr) NC_000005.10:150056279:A:G Identity +NM_152424.4:c.429T>A NP_689637.3:p.Cys143Ter NC_000023.11:64192857:A:T p.(Cys143Ter) NC_000023.11:64192857:A:T p.(Cys143Ter) NC_000023.11:64192857:A:T Identity +NM_001306190.2:c.563G>A NP_001293119.1:p.Gly188Asp NC_000009.12:91296025:C:T p.(Gly188Asp) NC_000009.12:91296025:C:T p.(Gly188Asp) NC_000009.12:91296025:C:T Identity +NM_001278302.1:c.86C>T NP_001265231.1:p.Ser29Leu NC_000012.12:122216807:G:A p.(Ser29Leu) NC_000012.12:122216807:G:A p.(Ser29Leu) NC_000012.12:122216807:G:A Identity +NM_001256468.2:c.3343G>T NP_001243397.1:p.Gly1115Ter NC_000010.11:75028715:G:T p.(Gly1115Ter) NC_000010.11:75028715:G:T p.(Gly1115Ter) NC_000010.11:75028715:G:T Identity +NM_001376929.1:c.576_578del NP_001363858.1:p.Val193del NC_000001.11:219918445:ACCAC:AC p.(Val193del) NC_000001.11:219918445:ACCAC:AC p.(Val193del) NC_000001.11:219918445:ACC: Identity +NM_024312.5:c.616_619del NP_077288.2:p.Thr206fs NC_000012.12:101780573:CTGTCTGTCTG:CTGTCTG p.(Thr206TyrfsTer6) NC_000012.12:101780573:CTGTCTGTCTG:CTGTCTG p.(Thr206TyrfsTer6) NC_000012.12:101780573:CTGT: Analogous +NM_001099274.3:c.841G>A NP_001092744.1:p.Glu281Lys NC_000014.9:24240638:C:T p.(Glu281Lys) NC_000014.9:24240638:C:T p.(Glu281Lys) NC_000014.9:24240638:C:T Identity +NM_006158.5:c.1001A>C NP_006149.2:p.Gln334Pro NC_000008.11:24955514:T:G p.(Gln334Pro) NC_000008.11:24955514:T:G p.(Gln334Pro) NC_000008.11:24955514:T:G Identity +NM_001160227.2:c.2849dup NP_001153699.1:p.Leu950fs NC_000015.10:44615551:AAAAAAA:AAAAAAAA p.(Leu950PhefsTer4) NC_000015.10:44615551:AAAAAAA:AAAAAAAA p.(Leu950PhefsTer4) ERR:SPDI Analogous +NM_198578.4:c.2611A>G NP_940980.4:p.Lys871Glu NC_000012.12:40287460:A:G p.(Lys871Glu) NC_000012.12:40287460:A:G p.(Lys871Glu) NC_000012.12:40287460:A:G Identity +NM_198578.4:c.7435A>G NP_940980.4:p.Asn2479Asp NC_000012.12:40367049:A:G p.(Asn2479Asp) NC_000012.12:40367049:A:G p.(Asn2479Asp) NC_000012.12:40367049:A:G Identity +NM_207352.4:c.518T>G NP_997235.3:p.Leu173Trp NC_000004.12:186197043:T:G p.(Leu173Trp) NC_000004.12:186197043:T:G p.(Leu173Trp) NC_000004.12:186197043:T:G Identity +NM_207352.4:c.655T>C NP_997235.3:p.Tyr219His NC_000004.12:186197582:T:C p.(Tyr219His) NC_000004.12:186197582:T:C p.(Tyr219His) NC_000004.12:186197582:T:C Identity +NM_000179.3:c.1526T>C NP_000170.1:p.Val509Ala NC_000002.12:47799508:T:C p.(Val509Ala) NC_000002.12:47799508:T:C p.(Val509Ala) NC_000002.12:47799508:T:C Identity +NM_000245.4:c.199A>G NP_000236.2:p.Thr67Ala NC_000007.14:116699282:A:G p.(Thr67Ala) NC_000007.14:116699282:A:G p.(Thr67Ala) NC_000007.14:116699282:A:G Identity +NM_012463.4:c.2356_2362del NP_036595.2:p.Gly786fs NC_000012.12:123756875:TGGCGTCT:T p.(Gly786CysfsTer13) NC_000012.12:123756875:TGGCGTCT:T p.(Gly786CysfsTer13) NC_000012.12:123756876:GGCGTCT: Analogous +NM_001357321.2:c.320C>G NP_001344250.1:p.Ser107Ter NC_000002.12:43846308:C:G p.(Ser107Ter) NC_000002.12:43846308:C:G p.(Ser107Ter) NC_000002.12:43846308:C:G Identity +NM_198578.4:c.4666C>A NP_940980.4:p.Leu1556Ile NC_000012.12:40314100:C:A p.(Leu1556Ile) NC_000012.12:40314100:C:A p.(Leu1556Ile) NC_000012.12:40314100:C:A Identity +NM_000057.4:c.3727dup NP_000048.1:p.Thr1243fs NC_000015.10:90804334:A:AA p.(Thr1243AsnfsTer14) NC_000015.10:90804334:A:AA p.(Thr1243AsnfsTer14) ERR:SPDI Analogous +NM_001100.4:c.143G>A NP_001091.1:p.Gly48Asp NC_000001.11:229432866:C:T p.(Gly48Asp) NC_000001.11:229432866:C:T p.(Gly48Asp) NC_000001.11:229432866:C:T Identity +NM_020919.4:c.3529G>T NP_065970.2:p.Gly1177Ter NC_000002.12:201723424:C:A p.(Gly1177Ter) NC_000002.12:201723424:C:A p.(Gly1177Ter) NC_000002.12:201723424:C:A Identity +NM_001165960.1:c.1676T>C NP_001159432.1:p.Leu559Pro NC_000017.11:8110116:A:G p.(Leu559Pro) NC_000017.11:8110116:A:G p.(Leu559Pro) NC_000017.11:8110116:A:G Identity +NM_001278346.1:c.595G>A NP_001265275.1:p.Gly199Arg NC_000005.10:178222563:C:T p.(Gly199Arg) NC_000005.10:178222563:C:T p.(Gly199Arg) NC_000005.10:178222563:C:T Identity +NM_017570.5:c.969C>A NP_060040.1:p.Ser323Arg NC_000008.11:144058128:G:T p.(Ser323Arg) NC_000008.11:144058128:G:T p.(Ser323Arg) NC_000008.11:144058128:G:T Identity +NM_004518.6:c.869G>A NP_004509.2:p.Gly290Asp NC_000020.11:63439655:C:T p.(Gly290Asp) NC_000020.11:63439655:C:T p.(Gly290Asp) NC_000020.11:63439655:C:T Identity +NM_001321961.2:c.576dup NP_001308890.1:p.Glu193fs NC_000008.11:132632816:TT:TTT p.(Glu193ArgfsTer4) NC_000008.11:132632816:TT:TTT p.(Glu193ArgfsTer4) ERR:SPDI Analogous +NM_000116.5:c.328T>C NP_000107.1:p.Ser110Pro NC_000023.11:154413524:T:C p.(Ser110Pro) NC_000023.11:154413524:T:C p.(Ser110Pro) NC_000023.11:154413524:T:C Identity +LRG_721t2:c.1303A>C LRG_721p2:p.Thr435Pro NC_000014.9:104770804:T:G ERR:Data provider error: ValueError: Transcript LRG_721t2 not found ERR:Data provider error: ValueError: Transcript LRG_721t2 not found ERR:AlignmentMapper(tx_ac=LRG_721t2, alt_ac=LRG_721t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_721t2, alt_ac=LRG_721t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_721t2 not found +NM_001330437.2:c.1516T>G NP_001317366.1:p.Ser506Ala NC_000012.12:112489079:T:G p.(Ser506Ala) NC_000012.12:112489079:T:G p.(Ser506Ala) NC_000012.12:112489079:T:G Identity +NM_004625.4:c.664C>T NP_004616.2:p.Arg222Trp NC_000003.12:13819329:G:A p.(Arg222Trp) NC_000003.12:13819329:G:A p.(Arg222Trp) NC_000003.12:13819329:G:A Identity +NM_000693.4:c.265C>T NP_000684.2:p.Arg89Cys NC_000015.10:100887631:C:T p.(Arg89Cys) NC_000015.10:100887631:C:T p.(Arg89Cys) NC_000015.10:100887631:C:T Identity +NM_000084.5:c.1639T>G NP_000075.1:p.Trp547Gly NC_000023.11:50090219:T:G p.(Trp547Gly) NC_000023.11:50090219:T:G p.(Trp547Gly) NC_000023.11:50090219:T:G Identity +NM_001354689.3:c.1717A>C NP_001341618.1:p.Asn573His NC_000003.12:12585132:T:G p.(Asn573His) NC_000003.12:12585132:T:G p.(Asn573His) NC_000003.12:12585132:T:G Identity +NM_001160227.2:c.4307_4308del NP_001153699.1:p.Gln1436fs NC_000015.10:44596208:TT: p.(Gln1436ArgfsTer7) NC_000015.10:44596208:TT: p.(Gln1436ArgfsTer7) NC_000015.10:44596208:TT: Analogous +NM_001277961.3:c.251A>G NP_001264890.1:p.Asp84Gly NC_000011.10:3967662:A:G p.(Asp84Gly) NC_000011.10:3967662:A:G p.(Asp84Gly) NC_000011.10:3967662:A:G Identity +NM_030662.4:c.938G>A NP_109587.1:p.Arg313Gln NC_000019.10:4097324:C:T p.(Arg313Gln) NC_000019.10:4097324:C:T p.(Arg313Gln) NC_000019.10:4097324:C:T Identity +NM_000557.5:c.1139G>A NP_000548.2:p.Arg380Gln NC_000020.11:35434275:C:T p.(Arg380Gln) NC_000020.11:35434275:C:T p.(Arg380Gln) NC_000020.11:35434275:C:T Identity +NM_001083602.3:c.4127G>A NP_001077071.1:p.Arg1376Gln NC_000009.12:95446930:C:T p.(Arg1376Gln) NC_000009.12:95446930:C:T p.(Arg1376Gln) NC_000009.12:95446930:C:T Identity +NM_000368.5:c.1960C>G NP_000359.1:p.Gln654Glu NC_000009.12:132905617:G:C p.(Gln654Glu) NC_000009.12:132905617:G:C p.(Gln654Glu) NC_000009.12:132905617:G:C Identity +NM_000535.7:c.1711C>A NP_000526.2:p.Leu571Ile NC_000007.14:5987053:G:T p.(Leu571Ile) NC_000007.14:5987053:G:T p.(Leu571Ile) NC_000007.14:5987053:G:T Identity +NM_000548.5:c.1318G>A NP_000539.2:p.Gly440Ser NC_000016.10:2062556:G:A p.(Gly440Ser) NC_000016.10:2062556:G:A p.(Gly440Ser) NC_000016.10:2062556:G:A Identity +NM_000059.4:c.1792A>G NP_000050.3:p.Thr598Ala NC_000013.11:32333269:A:G p.(Thr598Ala) NC_000013.11:32333269:A:G p.(Thr598Ala) NC_000013.11:32333269:A:G Identity +NM_000059.4:c.6322C>T NP_000050.3:p.Arg2108Cys NC_000013.11:32340676:C:T p.(Arg2108Cys) NC_000013.11:32340676:C:T p.(Arg2108Cys) NC_000013.11:32340676:C:T Identity +NM_000143.4:c.908T>C NP_000134.2:p.Leu303Ser NC_000001.11:241504241:A:G p.(Leu303Ser) NC_000001.11:241504241:A:G p.(Leu303Ser) NC_000001.11:241504241:A:G Identity +NM_000096.4:c.2701C>T NP_000087.2:p.Arg901Ter NC_000003.12:149178591:G:A p.(Arg901Ter) NC_000003.12:149178591:G:A p.(Arg901Ter) NC_000003.12:149178591:G:A Identity +NM_001347828.2:c.2972A>G NP_001334757.1:p.His991Arg NC_000004.12:54290328:A:G p.(His991Arg) NC_000004.12:54290328:A:G p.(His991Arg) NC_000004.12:54290328:A:G Identity +NM_001347827.2:c.896T>C NP_001334756.1:p.Val299Ala NC_000004.12:54267424:T:C p.(Val299Ala) NC_000004.12:54267424:T:C p.(Val299Ala) NC_000004.12:54267424:T:C Identity +NM_000096.4:c.1918del NP_000087.2:p.Asp640fs NC_000003.12:149186678:C: p.(Asp640IlefsTer70) NC_000003.12:149186678:C: p.(Asp640IlefsTer70) NC_000003.12:149186678:C: Analogous +NM_000117.3:c.494C>T NP_000108.1:p.Thr165Met NC_000023.11:154380925:C:T p.(Thr165Met) NC_000023.11:154380925:C:T p.(Thr165Met) NC_000023.11:154380925:C:T Identity +NM_014918.5:c.1616C>G NP_055733.2:p.Pro539Arg NC_000015.10:101178180:G:C p.(Pro539Arg) NC_000015.10:101178180:G:C p.(Pro539Arg) NC_000015.10:101178180:G:C Identity +NM_198525.3:c.587dup NP_940927.2:p.Glu197fs NC_000015.10:89649309:A:AA p.(Glu197GlyfsTer19) NC_000015.10:89649309:A:AA p.(Glu197GlyfsTer19) ERR:SPDI Analogous +NM_001411043.1:c.789G>A NP_001397972.1:p.Trp263Ter NC_000011.10:124923353:C:T p.(Trp263Ter) NC_000011.10:124923353:C:T p.(Trp263Ter) NC_000011.10:124923353:C:T Identity +NM_015972.4:c.259C>T NP_057056.1:p.Arg87Ter NC_000013.11:27623106:C:T p.(Arg87Ter) NC_000013.11:27623106:C:T p.(Arg87Ter) NC_000013.11:27623106:C:T Identity +NM_001160708.2:c.1394T>A NP_001154180.1:p.Val465Glu NC_000012.12:106432420:T:A p.(Val465Glu) NC_000012.12:106432420:T:A p.(Val465Glu) NC_000012.12:106432420:T:A Identity +NM_001101417.4:c.364G>C NP_001094887.1:p.Ala122Pro NC_000007.14:16406230:C:G p.(Ala122Pro) NC_000007.14:16406230:C:G p.(Ala122Pro) NC_000007.14:16406230:C:G Identity +NM_001281737.2:c.1307C>T NP_001268666.1:p.Pro436Leu NC_000004.12:158706350:C:T p.(Pro436Leu) NC_000004.12:158706350:C:T p.(Pro436Leu) NC_000004.12:158706350:C:T Identity +NM_005850.5:c.1A>G NP_005841.1:p.Met1Val NC_000001.11:149927758:T:C p.(Met1Val) NC_000001.11:149927758:T:C p.Met1? NC_000001.11:149927758:T:C Identity +NM_001171937.2:c.115C>T NP_001165408.1:p.Pro39Ser NC_000019.10:49812732:G:A p.(Pro39Ser) NC_000019.10:49812732:G:A p.(Pro39Ser) NC_000019.10:49812732:G:A Identity +NM_000492.4:c.3893G>C NP_000483.3:p.Gly1298Ala NC_000007.14:117652860:G:C p.(Gly1298Ala) NC_000007.14:117652860:G:C p.(Gly1298Ala) NC_000007.14:117652860:G:C Identity +NM_000492.4:c.3997G>T NP_000483.3:p.Gly1333Trp NC_000007.14:117664720:G:T p.(Gly1333Trp) NC_000007.14:117664720:G:T p.(Gly1333Trp) NC_000007.14:117664720:G:T Identity +NM_000117.3:c.470G>A NP_000108.1:p.Arg157Gln NC_000023.11:154380901:G:A p.(Arg157Gln) NC_000023.11:154380901:G:A p.(Arg157Gln) NC_000023.11:154380901:G:A Identity +NM_000215.4:c.1744C>T NP_000206.2:p.Arg582Trp NC_000019.10:17837170:G:A p.(Arg582Trp) NC_000019.10:17837170:G:A p.(Arg582Trp) NC_000019.10:17837170:G:A Identity +NM_000527.5:c.362G>A NP_000518.1:p.Cys121Tyr NC_000019.10:11105267:G:A p.(Cys121Tyr) NC_000019.10:11105267:G:A p.(Cys121Tyr) NC_000019.10:11105267:G:A Identity +NM_001005242.3:c.1627G>A NP_001005242.2:p.Val543Ile NC_000012.12:32824091:C:T p.(Val543Ile) NC_000012.12:32824091:C:T p.(Val543Ile) NC_000012.12:32824091:C:T Identity +NM_001297778.1:c.817A>G NP_001284707.1:p.Asn273Asp NC_000001.11:9982677:A:G p.(Asn273Asp) NC_000001.11:9982677:A:G p.(Asn273Asp) NC_000001.11:9982677:A:G Identity +NM_001407571.1:c.1009A>G NP_001394500.1:p.Lys337Glu NC_000017.11:43094308:T:C p.(Lys337Glu) NC_000017.11:43094308:T:C p.(Lys337Glu) NC_000017.11:43094308:T:C Identity +NM_001407669.1:c.3529A>G NP_001394598.1:p.Ser1177Gly NC_000017.11:43091878:T:C p.(Ser1177Gly) NC_000017.11:43091878:T:C p.(Ser1177Gly) NC_000017.11:43091878:T:C Identity +NM_000059.4:c.7544C>T NP_000050.3:p.Thr2515Ile NC_000013.11:32356535:C:T p.(Thr2515Ile) NC_000013.11:32356535:C:T p.(Thr2515Ile) NC_000013.11:32356535:C:T Identity +NM_001318369.2:c.742T>C NP_001305298.1:p.Trp248Arg NC_000011.10:20628027:T:C p.(Trp248Arg) NC_000011.10:20628027:T:C p.(Trp248Arg) NC_000011.10:20628027:T:C Identity +NM_024312.5:c.1090C>T NP_077288.2:p.Arg364Ter NC_000012.12:101770428:G:A p.(Arg364Ter) NC_000012.12:101770428:G:A p.(Arg364Ter) NC_000012.12:101770428:G:A Identity +NM_198506.5:c.1318C>T NP_940908.3:p.Arg440Ter NC_000004.12:109870066:C:T p.(Arg440Ter) NC_000004.12:109870066:C:T p.(Arg440Ter) NC_000004.12:109870066:C:T Identity +NM_198506.5:c.1151C>G NP_940908.3:p.Ser384Ter NC_000004.12:109869899:C:G p.(Ser384Ter) NC_000004.12:109869899:C:G p.(Ser384Ter) NC_000004.12:109869899:C:G Identity +LRG_1264t1:c.340C>T LRG_1264p1:p.Arg114Trp NC_000017.11:8086027:G:A ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found +NM_178012.5:c.350T>C NP_821080.1:p.Leu117Pro NC_000006.12:3225738:A:G p.(Leu117Pro) NC_000006.12:3225738:A:G p.(Leu117Pro) NC_000006.12:3225738:A:G Identity +NM_000431.4:c.764T>C NP_000422.1:p.Leu255Pro NC_000012.12:109590856:T:C p.(Leu255Pro) NC_000012.12:109590856:T:C p.(Leu255Pro) NC_000012.12:109590856:T:C Identity +NM_001039210.5:c.221A>G NP_001034299.3:p.Lys74Arg NC_000023.11:111684999:A:G p.(Lys74Arg) NC_000023.11:111684999:A:G p.(Lys74Arg) NC_000023.11:111684999:A:G Identity +LRG_1392t1:c.1117G>A LRG_1392p1:p.Gly373Arg NC_000019.10:18162973:G:A ERR:Data provider error: ValueError: Transcript LRG_1392t1 not found ERR:Data provider error: ValueError: Transcript LRG_1392t1 not found ERR:AlignmentMapper(tx_ac=LRG_1392t1, alt_ac=LRG_1392t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1392t1, alt_ac=LRG_1392t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1392t1 not found +NM_001289.6:c.303C>G NP_001280.3:p.His101Gln NC_000023.11:155280058:G:C p.(His101Gln) NC_000023.11:155280058:G:C p.(His101Gln) NC_000023.11:155280058:G:C Identity +NM_001315529.2:c.1174dup NP_001302458.1:p.Thr392fs NC_000021.9:46353169:AAAAAA:AAAAAAA p.(Thr392AsnfsTer4) NC_000021.9:46353169:AAAAAA:AAAAAAA p.(Thr392AsnfsTer4) ERR:SPDI Analogous +NM_001320974.2:c.1030T>C NP_001307903.1:p.Ser344Pro NC_000010.11:99716418:A:G p.(Ser344Pro) NC_000010.11:99716418:A:G p.(Ser344Pro) NC_000010.11:99716418:A:G Identity +NM_001318054.2:c.181C>T NP_001304983.1:p.Arg61Trp NC_000011.10:533308:G:A p.(Arg61Trp) NC_000011.10:533308:G:A p.(Arg61Trp) NC_000011.10:533308:G:A Identity +NM_001302959.2:c.227del NP_001289888.1:p.His76fs NC_000011.10:67489390:A: p.(His76LeufsTer21) NC_000011.10:67489390:A: p.(His76LeufsTer21) NC_000011.10:67489390:A: Analogous +NM_144606.7:c.918G>A NP_653207.1:p.Trp306Ter NC_000017.11:17221489:C:T p.(Trp306Ter) NC_000017.11:17221489:C:T p.(Trp306Ter) NC_000017.11:17221489:C:T Identity +NM_000256.3:c.1358C>T NP_000247.2:p.Pro453Leu NC_000011.10:47342928:G:A p.(Pro453Leu) NC_000011.10:47342928:G:A p.(Pro453Leu) NC_000011.10:47342928:G:A Identity +NM_000138.5:c.2691dup NP_000129.3:p.Lys898Ter NC_000015.10:48494240:A:AA p.(Lys898Ter) NC_000015.10:48494240:A:AA p.(Lys898Ter) ERR:SPDI Identity +NM_000256.3:c.2512G>A NP_000247.2:p.Glu838Lys NC_000011.10:47337480:C:T p.(Glu838Lys) NC_000011.10:47337480:C:T p.(Glu838Lys) NC_000011.10:47337480:C:T Identity +NM_000138.5:c.3514G>A NP_000129.3:p.Val1172Met NC_000015.10:48487149:C:T p.(Val1172Met) NC_000015.10:48487149:C:T p.(Val1172Met) NC_000015.10:48487149:C:T Identity +NM_000138.5:c.6656T>C NP_000129.3:p.Phe2219Ser NC_000015.10:48432948:A:G p.(Phe2219Ser) NC_000015.10:48432948:A:G p.(Phe2219Ser) NC_000015.10:48432948:A:G Identity +NM_000138.5:c.7955G>A NP_000129.3:p.Cys2652Tyr NC_000015.10:48415631:C:T p.(Cys2652Tyr) NC_000015.10:48415631:C:T p.(Cys2652Tyr) NC_000015.10:48415631:C:T Identity +NM_000138.5:c.3164G>A NP_000129.3:p.Cys1055Tyr NC_000015.10:48488411:C:T p.(Cys1055Tyr) NC_000015.10:48488411:C:T p.(Cys1055Tyr) NC_000015.10:48488411:C:T Identity +NM_000138.5:c.4001G>A NP_000129.3:p.Gly1334Asp NC_000015.10:48474613:C:T p.(Gly1334Asp) NC_000015.10:48474613:C:T p.(Gly1334Asp) NC_000015.10:48474613:C:T Identity +NM_000138.5:c.5512G>T NP_000129.3:p.Gly1838Cys NC_000015.10:48452594:C:A p.(Gly1838Cys) NC_000015.10:48452594:C:A p.(Gly1838Cys) NC_000015.10:48452594:C:A Identity +NM_000257.4:c.2171T>A NP_000248.2:p.Ile724Asn NC_000014.9:23425809:A:T p.(Ile724Asn) NC_000014.9:23425809:A:T p.(Ile724Asn) NC_000014.9:23425809:A:T Identity +NM_000257.4:c.4258C>T NP_000248.2:p.Arg1420Trp NC_000014.9:23417597:G:A p.(Arg1420Trp) NC_000014.9:23417597:G:A p.(Arg1420Trp) NC_000014.9:23417597:G:A Identity +NM_000257.4:c.4377G>T NP_000248.2:p.Lys1459Asn NC_000014.9:23417294:C:A p.(Lys1459Asn) NC_000014.9:23417294:C:A p.(Lys1459Asn) NC_000014.9:23417294:C:A Identity +NM_000257.4:c.4487A>C NP_000248.2:p.Glu1496Ala NC_000014.9:23417184:T:G p.(Glu1496Ala) NC_000014.9:23417184:T:G p.(Glu1496Ala) NC_000014.9:23417184:T:G Identity +NM_000256.3:c.2614G>A NP_000247.2:p.Glu872Lys NC_000011.10:47335999:C:T p.(Glu872Lys) NC_000011.10:47335999:C:T p.(Glu872Lys) NC_000011.10:47335999:C:T Identity +LRG_386t1:c.431_432del LRG_386p1:p.Gly144fs NC_000011.10:47350086:AC: ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000260.4:c.494C>T NP_000251.3:p.Thr165Met NC_000011.10:77156682:C:T p.(Thr165Met) NC_000011.10:77156682:C:T p.(Thr165Met) NC_000011.10:77156682:C:T Identity +NM_000260.4:c.4996A>T NP_000251.3:p.Ser1666Cys NC_000011.10:77201590:A:T p.(Ser1666Cys) NC_000011.10:77201590:A:T p.(Ser1666Cys) NC_000011.10:77201590:A:T Identity +NM_000256.3:c.3580G>A NP_000247.2:p.Ala1194Thr NC_000011.10:47332612:C:T p.(Ala1194Thr) NC_000011.10:47332612:C:T p.(Ala1194Thr) NC_000011.10:47332612:C:T Identity +NM_000256.3:c.3599T>C NP_000247.2:p.Leu1200Pro NC_000011.10:47332593:A:G p.(Leu1200Pro) NC_000011.10:47332593:A:G p.(Leu1200Pro) NC_000011.10:47332593:A:G Identity +NM_000257.4:c.1612T>C NP_000248.2:p.Cys538Arg NC_000014.9:23427860:A:G p.(Cys538Arg) NC_000014.9:23427860:A:G p.(Cys538Arg) NC_000014.9:23427860:A:G Identity +NM_000256.3:c.646G>A NP_000247.2:p.Ala216Thr NC_000011.10:47349781:C:T p.(Ala216Thr) NC_000011.10:47349781:C:T p.(Ala216Thr) NC_000011.10:47349781:C:T Identity +NM_000257.4:c.1598T>A NP_000248.2:p.Ile533Asn NC_000014.9:23427874:A:T p.(Ile533Asn) NC_000014.9:23427874:A:T p.(Ile533Asn) NC_000014.9:23427874:A:T Identity +NM_000257.4:c.4720C>T NP_000248.2:p.Arg1574Trp NC_000014.9:23416236:G:A p.(Arg1574Trp) NC_000014.9:23416236:G:A p.(Arg1574Trp) NC_000014.9:23416236:G:A Identity +NM_000260.4:c.1097T>C NP_000251.3:p.Leu366Pro NC_000011.10:77160178:T:C p.(Leu366Pro) NC_000011.10:77160178:T:C p.(Leu366Pro) NC_000011.10:77160178:T:C Identity +NM_000260.4:c.440G>A NP_000251.3:p.Arg147His NC_000011.10:77156060:G:A p.(Arg147His) NC_000011.10:77156060:G:A p.(Arg147His) NC_000011.10:77156060:G:A Identity +NM_001035.3:c.6380G>A NP_001026.2:p.Arg2127Gln NC_000001.11:237628019:G:A p.(Arg2127Gln) NC_000001.11:237628019:G:A p.(Arg2127Gln) NC_000001.11:237628019:G:A Identity +NM_000366.6:c.845C>G NP_000357.3:p.Thr282Ser NC_000015.10:63064135:C:G p.(Thr282Ser) NC_000015.10:63064135:C:G p.(Thr282Ser) NC_000015.10:63064135:C:G Identity +NM_000501.4:c.2132G>A NP_000492.2:p.Gly711Asp NC_000007.14:74068656:G:A p.(Gly711Asp) NC_000007.14:74068656:G:A p.(Gly711Asp) NC_000007.14:74068656:G:A Identity +NM_000257.4:c.4330A>G NP_000248.2:p.Lys1444Glu NC_000014.9:23417525:T:C p.(Lys1444Glu) NC_000014.9:23417525:T:C p.(Lys1444Glu) NC_000014.9:23417525:T:C Identity +NM_000257.4:c.844G>T NP_000248.2:p.Asp282Tyr NC_000014.9:23430951:C:A p.(Asp282Tyr) NC_000014.9:23430951:C:A p.(Asp282Tyr) NC_000014.9:23430951:C:A Identity +NM_001105208.3:c.326C>G NP_001098678.1:p.Ser109Ter NC_000006.12:112253824:G:C p.(Ser109Ter) NC_000006.12:112253824:G:C p.(Ser109Ter) NC_000006.12:112253824:G:C Identity +NM_001170414.2:c.1377C>A NP_001163885.1:p.Asp459Glu NC_000009.12:69228106:C:A p.(Asp459Glu) NC_000009.12:69228106:C:A p.(Asp459Glu) NC_000009.12:69228106:C:A Identity +NM_001171930.2:c.1096G>A NP_001165401.1:p.Ala366Thr NC_000010.11:71617354:G:A p.(Ala366Thr) NC_000010.11:71617354:G:A p.(Ala366Thr) NC_000010.11:71617354:G:A Identity +NM_001171932.2:c.1156C>T NP_001165403.1:p.Pro386Ser NC_000010.11:71617414:C:T p.(Pro386Ser) NC_000010.11:71617414:C:T p.(Pro386Ser) NC_000010.11:71617414:C:T Identity +NM_001103.4:c.893G>A NP_001094.1:p.Arg298His NC_000001.11:236739317:G:A p.(Arg298His) NC_000001.11:236739317:G:A p.(Arg298His) NC_000001.11:236739317:G:A Identity +NM_001199799.2:c.1162T>C NP_001186728.1:p.Trp388Arg NC_000003.12:121993586:A:G p.(Trp388Arg) NC_000003.12:121993586:A:G p.(Trp388Arg) NC_000003.12:121993586:A:G Identity +NM_001105206.3:c.4168C>T NP_001098676.2:p.Arg1390Trp NC_000006.12:112129040:G:A p.(Arg1390Trp) NC_000006.12:112129040:G:A p.(Arg1390Trp) NC_000006.12:112129040:G:A Identity +NM_001122606.1:c.293G>A NP_001116078.1:p.Trp98Ter NC_000023.11:120455460:C:T p.(Trp98Ter) NC_000023.11:120455460:C:T p.(Trp98Ter) NC_000023.11:120455460:C:T Identity +LRG_443t2:c.1877C>T LRG_443p2:p.Ser626Leu NC_000012.12:98534133:C:T ERR:Data provider error: ValueError: Transcript LRG_443t2 not found ERR:Data provider error: ValueError: Transcript LRG_443t2 not found ERR:AlignmentMapper(tx_ac=LRG_443t2, alt_ac=LRG_443t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_443t2, alt_ac=LRG_443t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_443t2 not found +NM_004004.6:c.119C>A NP_003995.2:p.Ala40Glu NC_000013.11:20189462:G:T p.(Ala40Glu) NC_000013.11:20189462:G:T p.(Ala40Glu) NC_000013.11:20189462:G:T Identity +NM_001035.3:c.3152G>A NP_001026.2:p.Arg1051His NC_000001.11:237550628:G:A p.(Arg1051His) NC_000001.11:237550628:G:A p.(Arg1051His) NC_000001.11:237550628:G:A Identity +NM_001035.3:c.5543C>T NP_001026.2:p.Pro1848Leu NC_000001.11:237614670:C:T p.(Pro1848Leu) NC_000001.11:237614670:C:T p.(Pro1848Leu) NC_000001.11:237614670:C:T Identity +NM_000441.2:c.1069G>A NP_000432.1:p.Ala357Thr NC_000007.14:107689119:G:A p.(Ala357Thr) NC_000007.14:107689119:G:A p.(Ala357Thr) NC_000007.14:107689119:G:A Identity +NM_001035.3:c.13541A>G NP_001026.2:p.Asn4514Ser NC_000001.11:237791492:A:G p.(Asn4514Ser) NC_000001.11:237791492:A:G p.(Asn4514Ser) NC_000001.11:237791492:A:G Identity +NM_001103.4:c.736A>G NP_001094.1:p.Met246Val NC_000001.11:236735672:A:G p.(Met246Val) NC_000001.11:236735672:A:G p.(Met246Val) NC_000001.11:236735672:A:G Identity +NM_002471.4:c.4747G>A NP_002462.2:p.Glu1583Lys NC_000014.9:23386526:C:T p.(Glu1583Lys) NC_000014.9:23386526:C:T p.(Glu1583Lys) NC_000014.9:23386526:C:T Identity +NM_001692.4:c.1298T>C NP_001683.2:p.Val433Ala NC_000002.12:70964784:T:C p.(Val433Ala) NC_000002.12:70964784:T:C p.(Val433Ala) NC_000002.12:70964784:T:C Identity +NM_002471.4:c.292G>A NP_002462.2:p.Glu98Lys NC_000014.9:23405679:C:T p.(Glu98Lys) NC_000014.9:23405679:C:T p.(Glu98Lys) NC_000014.9:23405679:C:T Identity +NM_001354609.2:c.1802A>C NP_001341538.1:p.Lys601Thr NC_000007.14:140753332:T:G p.(Lys601Thr) NC_000007.14:140753332:T:G p.(Lys601Thr) NC_000007.14:140753332:T:G Identity +NM_001008844.3:c.860A>G NP_001008844.1:p.Asn287Ser NC_000006.12:7565440:A:G p.(Asn287Ser) NC_000006.12:7565440:A:G p.(Asn287Ser) NC_000006.12:7565440:A:G Identity +NM_001005242.3:c.516C>A NP_001005242.2:p.Ser172Arg NC_000012.12:32878363:G:T p.(Ser172Arg) NC_000012.12:32878363:G:T p.(Ser172Arg) NC_000012.12:32878363:G:T Identity +NM_001354609.2:c.1460T>G NP_001341538.1:p.Val487Gly NC_000007.14:140778047:A:C p.(Val487Gly) NC_000007.14:140778047:A:C p.(Val487Gly) NC_000007.14:140778047:A:C Identity +NM_001008844.3:c.2959T>C NP_001008844.1:p.Ser987Pro NC_000006.12:7577859:T:C p.(Ser987Pro) NC_000006.12:7577859:T:C p.(Ser987Pro) NC_000006.12:7577859:T:C Identity +NM_001369404.1:c.366A>G NP_001356333.1:p.Pro122= NC_000011.10:19182719:T:C p.(Pro122=) NC_000011.10:19182719:T:C p.(Pro122=) NC_000011.10:19182719:T:C Identity +NM_001008844.3:c.607G>A NP_001008844.1:p.Asp203Asn NC_000006.12:7562660:G:A p.(Asp203Asn) NC_000006.12:7562660:G:A p.(Asp203Asn) NC_000006.12:7562660:G:A Identity +NM_001346897.2:c.2168_2169delinsTT NP_001333826.1:p.Ser723Ile NC_000007.14:55181311:GC:TT p.(Ser723Ile) NC_000007.14:55181311:GC:TT p.(Ser723Ile) NC_000007.14:55181311:GC:TT Identity +NM_001008844.3:c.157T>G NP_001008844.1:p.Ser53Ala NC_000006.12:7542071:T:G p.(Ser53Ala) NC_000006.12:7542071:T:G p.(Ser53Ala) NC_000006.12:7542071:T:G Identity +NM_001369787.1:c.491G>A NP_001356716.1:p.Arg164Gln NC_000012.12:25209870:C:T p.(Arg164Gln) NC_000012.12:25209870:C:T p.(Arg164Gln) NC_000012.12:25209870:C:T Identity +NM_001382394.1:c.1111A>G NP_001369323.1:p.Thr371Ala NC_000002.12:39024079:T:C p.(Thr371Ala) NC_000002.12:39024079:T:C p.(Thr371Ala) NC_000002.12:39024079:T:C Identity +NM_001145853.1:c.350C>T NP_001139325.1:p.Thr117Met NC_000004.12:6289020:C:T p.(Thr117Met) NC_000004.12:6289020:C:T p.(Thr117Met) NC_000004.12:6289020:C:T Identity +NM_006393.3:c.11C>T NP_006384.1:p.Pro4Leu NC_000010.11:20897194:G:A p.(Pro4Leu) NC_000010.11:20897194:G:A p.(Pro4Leu) NC_000010.11:20897194:G:A Identity +NM_006393.3:c.1775C>A NP_006384.1:p.Ala592Glu NC_000010.11:20828530:G:T p.(Ala592Glu) NC_000010.11:20828530:G:T p.(Ala592Glu) NC_000010.11:20828530:G:T Identity +NM_003373.4:c.1390A>C NP_003364.1:p.Lys464Gln NC_000010.11:74094307:A:C p.(Lys464Gln) NC_000010.11:74094307:A:C p.(Lys464Gln) NC_000010.11:74094307:A:C Identity +NM_003373.4:c.1237G>A NP_003364.1:p.Ala413Thr NC_000010.11:74090082:G:A p.(Ala413Thr) NC_000010.11:74090082:G:A p.(Ala413Thr) NC_000010.11:74090082:G:A Identity +NM_001300899.2:c.2635G>A NP_001287828.1:p.Asp879Asn NC_000006.12:75886970:G:A p.(Asp879Asn) NC_000006.12:75886970:G:A p.(Asp879Asn) NC_000006.12:75886970:G:A Identity +NM_014391.3:c.319G>T NP_055206.2:p.Val107Leu NC_000010.11:90919156:C:A p.(Val107Leu) NC_000010.11:90919156:C:A p.(Val107Leu) NC_000010.11:90919156:C:A Identity +NM_022124.6:c.6596T>A NP_071407.4:p.Ile2199Asn NC_000010.11:71793523:T:A p.(Ile2199Asn) NC_000010.11:71793523:T:A p.(Ile2199Asn) NC_000010.11:71793523:T:A Identity +NM_032119.4:c.12586C>T NP_115495.3:p.Pro4196Ser NC_000005.10:90777962:C:T p.(Pro4196Ser) NC_000005.10:90777962:C:T p.(Pro4196Ser) NC_000005.10:90777962:C:T Identity +NM_032119.4:c.1718G>T NP_115495.3:p.Gly573Val NC_000005.10:90629417:G:T p.(Gly573Val) NC_000005.10:90629417:G:T p.(Gly573Val) NC_000005.10:90629417:G:T Identity +NM_032119.4:c.7582C>T NP_115495.3:p.Pro2528Ser NC_000005.10:90694337:C:T p.(Pro2528Ser) NC_000005.10:90694337:C:T p.(Pro2528Ser) NC_000005.10:90694337:C:T Identity +NM_032119.4:c.16841C>T NP_115495.3:p.Thr5614Ile NC_000005.10:90840806:C:T p.(Thr5614Ile) NC_000005.10:90840806:C:T p.(Thr5614Ile) NC_000005.10:90840806:C:T Identity +NM_032119.4:c.6676G>A NP_115495.3:p.Glu2226Lys NC_000005.10:90690045:G:A p.(Glu2226Lys) NC_000005.10:90690045:G:A p.(Glu2226Lys) NC_000005.10:90690045:G:A Identity +NM_001142763.2:c.2732C>T NP_001136235.1:p.Pro911Leu NC_000010.11:54020225:G:A p.(Pro911Leu) NC_000010.11:54020225:G:A p.(Pro911Leu) NC_000010.11:54020225:G:A Identity +NM_133378.4:c.1186G>A NP_596869.4:p.Ala396Thr NC_000002.12:178794980:C:T p.(Ala396Thr) NC_000002.12:178794980:C:T p.(Ala396Thr) NC_000002.12:178794980:C:T Identity +NM_032119.4:c.5960C>T NP_115495.3:p.Pro1987Leu NC_000005.10:90683880:C:T p.(Pro1987Leu) NC_000005.10:90683880:C:T p.(Pro1987Leu) NC_000005.10:90683880:C:T Identity +NM_001142763.2:c.3547G>A NP_001136235.1:p.Val1183Ile NC_000010.11:53866826:C:T p.(Val1183Ile) NC_000010.11:53866826:C:T p.(Val1183Ile) NC_000010.11:53866826:C:T Identity +NM_001256850.1:c.20717G>A NP_001243779.1:p.Arg6906His NC_000002.12:178723431:C:T p.(Arg6906His) NC_000002.12:178723431:C:T p.(Arg6906His) NC_000002.12:178723431:C:T Identity +NM_001256850.1:c.25577C>T NP_001243779.1:p.Thr8526Met NC_000002.12:178714129:G:A p.(Thr8526Met) NC_000002.12:178714129:G:A p.(Thr8526Met) NC_000002.12:178714129:G:A Identity +NM_001171930.2:c.1307G>A NP_001165401.1:p.Ser436Asn NC_000010.11:71646474:G:A p.(Ser436Asn) NC_000010.11:71646474:G:A p.(Ser436Asn) NC_000010.11:71646474:G:A Identity +NM_001256850.1:c.24985C>T NP_001243779.1:p.Arg8329Cys NC_000002.12:178715249:G:A p.(Arg8329Cys) NC_000002.12:178715249:G:A p.(Arg8329Cys) NC_000002.12:178715249:G:A Identity +NM_001256850.1:c.3295G>A NP_001243779.1:p.Val1099Met NC_000002.12:178782296:C:T p.(Val1099Met) NC_000002.12:178782296:C:T p.(Val1099Met) NC_000002.12:178782296:C:T Identity +NM_133378.4:c.15751G>A NP_596869.4:p.Gly5251Ser NC_000002.12:178728340:C:T p.(Gly5251Ser) NC_000002.12:178728340:C:T p.(Gly5251Ser) NC_000002.12:178728340:C:T Identity +NM_001256850.1:c.29767G>T NP_001243779.1:p.Val9923Phe NC_000002.12:178698878:C:A p.(Val9923Phe) NC_000002.12:178698878:C:A p.(Val9923Phe) NC_000002.12:178698878:C:A Identity +NM_001256850.1:c.48269T>C NP_001243779.1:p.Ile16090Thr NC_000002.12:178607495:A:G p.(Ile16090Thr) NC_000002.12:178607495:A:G p.(Ile16090Thr) NC_000002.12:178607495:A:G Identity +NM_001256850.1:c.60536C>T NP_001243779.1:p.Thr20179Ile NC_000002.12:178583722:G:A p.(Thr20179Ile) NC_000002.12:178583722:G:A p.(Thr20179Ile) NC_000002.12:178583722:G:A Identity +NM_133378.4:c.73828G>T NP_596869.4:p.Glu24610Ter NC_000002.12:178564599:C:A p.(Glu24610Ter) NC_000002.12:178564599:C:A p.(Glu24610Ter) NC_000002.12:178564599:C:A Identity +NM_032119.4:c.6133G>A NP_115495.3:p.Gly2045Arg NC_000005.10:90684053:G:A p.(Gly2045Arg) NC_000005.10:90684053:G:A p.(Gly2045Arg) NC_000005.10:90684053:G:A Identity +NM_001256850.1:c.30886C>G NP_001243779.1:p.Pro10296Ala NC_000002.12:178689821:G:C p.(Pro10296Ala) NC_000002.12:178689821:G:C p.(Pro10296Ala) NC_000002.12:178689821:G:C Identity +NM_001256850.1:c.78358G>A NP_001243779.1:p.Val26120Ile NC_000002.12:178562850:C:T p.(Val26120Ile) NC_000002.12:178562850:C:T p.(Val26120Ile) NC_000002.12:178562850:C:T Identity +NM_001256850.1:c.83260T>C NP_001243779.1:p.Phe27754Leu NC_000002.12:178556970:A:G p.(Phe27754Leu) NC_000002.12:178556970:A:G p.(Phe27754Leu) NC_000002.12:178556970:A:G Identity +NM_133378.4:c.81924T>G NP_596869.4:p.Asp27308Glu NC_000002.12:178553271:A:C p.(Asp27308Glu) NC_000002.12:178553271:A:C p.(Asp27308Glu) NC_000002.12:178553271:A:C Identity +NM_133378.4:c.91730G>A NP_596869.4:p.Arg30577Gln NC_000002.12:178537772:C:T p.(Arg30577Gln) NC_000002.12:178537772:C:T p.(Arg30577Gln) NC_000002.12:178537772:C:T Identity +NM_001267550.2:c.105416C>T NP_001254479.2:p.Thr35139Ile NC_000002.12:178531198:G:A p.(Thr35139Ile) NC_000002.12:178531198:G:A p.(Thr35139Ile) NC_000002.12:178531198:G:A Identity +NM_133379.5:c.11821C>T NP_596870.2:p.Arg3941Cys NC_000002.12:178750578:G:A p.(Arg3941Cys) NC_000002.12:178750578:G:A p.(Arg3941Cys) NC_000002.12:178750578:G:A Identity +NM_133378.4:c.97926A>C NP_596869.4:p.Gln32642His NC_000002.12:178530984:T:G p.(Gln32642His) NC_000002.12:178530984:T:G p.(Gln32642His) NC_000002.12:178530984:T:G Identity +NM_001256850.1:c.64981G>A NP_001243779.1:p.Val21661Ile NC_000002.12:178576227:C:T p.(Val21661Ile) NC_000002.12:178576227:C:T p.(Val21661Ile) NC_000002.12:178576227:C:T Identity +NM_001256850.1:c.72925C>T NP_001243779.1:p.Leu24309Phe NC_000002.12:178568283:G:A p.(Leu24309Phe) NC_000002.12:178568283:G:A p.(Leu24309Phe) NC_000002.12:178568283:G:A Identity +NM_001256850.1:c.78695T>C NP_001243779.1:p.Val26232Ala NC_000002.12:178562513:A:G p.(Val26232Ala) NC_000002.12:178562513:A:G p.(Val26232Ala) NC_000002.12:178562513:A:G Identity +NM_138691.3:c.2068G>A NP_619636.2:p.Ala690Thr NC_000009.12:72826932:G:A p.(Ala690Thr) NC_000009.12:72826932:G:A p.(Ala690Thr) NC_000009.12:72826932:G:A Identity +NM_001172309.2:c.1209AGA[2] NP_001165780.1:p.Glu406del NC_000001.11:77935971:AGAAGAAGA:AGAAGA p.(Glu406del) NC_000001.11:77935971:A:AGAAGA ERR:Parse ERR:Parse Identity +NM_001256850.1:c.41464G>A NP_001243779.1:p.Gly13822Arg NC_000002.12:178620029:C:T p.(Gly13822Arg) NC_000002.12:178620029:C:T p.(Gly13822Arg) NC_000002.12:178620029:C:T Identity +NM_001256850.1:c.58994G>A NP_001243779.1:p.Arg19665His NC_000002.12:178587293:C:T p.(Arg19665His) NC_000002.12:178587293:C:T p.(Arg19665His) NC_000002.12:178587293:C:T Identity +NM_001256850.1:c.94179G>C NP_001243779.1:p.Trp31393Cys NC_000002.12:178538726:C:G p.(Trp31393Cys) NC_000002.12:178538726:C:G p.(Trp31393Cys) NC_000002.12:178538726:C:G Identity +NM_133379.5:c.14806A>T NP_596870.2:p.Thr4936Ser NC_000002.12:178747593:T:A p.(Thr4936Ser) NC_000002.12:178747593:T:A p.(Thr4936Ser) NC_000002.12:178747593:T:A Identity +NM_001256850.1:c.11782A>C NP_001243779.1:p.Asn3928His NC_000002.12:178740499:T:G p.(Asn3928His) NC_000002.12:178740499:T:G p.(Asn3928His) NC_000002.12:178740499:T:G Identity +NM_001287489.2:c.2075G>A NP_001274418.1:p.Arg692Gln NC_000002.12:26479490:C:T p.(Arg692Gln) NC_000002.12:26479490:C:T p.(Arg692Gln) NC_000002.12:26479490:C:T Identity +NM_001287489.2:c.4922G>A NP_001274418.1:p.Arg1641His NC_000002.12:26464906:C:T p.(Arg1641His) NC_000002.12:26464906:C:T p.(Arg1641His) NC_000002.12:26464906:C:T Identity +NM_000335.5:c.5708C>T NP_000326.2:p.Ser1903Leu NC_000003.12:38550660:G:A p.(Ser1903Leu) NC_000003.12:38550660:G:A p.(Ser1903Leu) NC_000003.12:38550660:G:A Identity +NM_133379.5:c.16353C>G NP_596870.2:p.Tyr5451Ter NC_000002.12:178746046:G:C p.(Tyr5451Ter) NC_000002.12:178746046:G:C p.(Tyr5451Ter) NC_000002.12:178746046:G:C Identity +NM_001297764.2:c.127G>A NP_001284693.1:p.Val43Met NC_000011.10:17531519:C:T p.(Val43Met) NC_000011.10:17531519:C:T p.(Val43Met) NC_000011.10:17531519:C:T Identity +NM_001195794.1:c.142A>G NP_001182723.1:p.Asn48Asp NC_000003.12:150972566:T:C p.(Asn48Asp) NC_000003.12:150972566:T:C p.(Asn48Asp) NC_000003.12:150972566:T:C Identity +NM_133378.4:c.92110C>T NP_596869.4:p.Leu30704Phe NC_000002.12:178537392:G:A p.(Leu30704Phe) NC_000002.12:178537392:G:A p.(Leu30704Phe) NC_000002.12:178537392:G:A Identity +NM_001257374.3:c.776_779dup NP_001244303.1:p.Glu260fs NC_000001.11:156136074:ATGGA:ATGGATGGA p.(Glu260AspfsTer55) NC_000001.11:156136074:ATGGA:ATGGATGGA p.(Glu260AspfsTer55) ERR:SPDI Analogous +NM_001257374.3:c.622del NP_001244303.1:p.Leu208fs NC_000001.11:156135921:C: p.(Leu208PhefsTer160) NC_000001.11:156135921:C: p.(Leu208PhefsTer160) NC_000001.11:156135921:C: Analogous +NM_001282489.3:c.79A>G NP_001269418.1:p.Lys27Glu NC_000017.11:74920447:T:C p.(Lys27Glu) NC_000017.11:74920447:T:C p.(Lys27Glu) NC_000017.11:74920447:T:C Identity +NM_001287489.2:c.2542G>A NP_001274418.1:p.Asp848Asn NC_000002.12:26477024:C:T p.(Asp848Asn) NC_000002.12:26477024:C:T p.(Asp848Asn) NC_000002.12:26477024:C:T Identity +NM_000335.5:c.1441C>T NP_000326.2:p.Arg481Trp NC_000003.12:38604805:G:A p.(Arg481Trp) NC_000003.12:38604805:G:A p.(Arg481Trp) NC_000003.12:38604805:G:A Identity +NM_000335.5:c.1967C>T NP_000326.2:p.Pro656Leu NC_000003.12:38598973:G:A p.(Pro656Leu) NC_000003.12:38598973:G:A p.(Pro656Leu) NC_000003.12:38598973:G:A Identity +NM_206933.4:c.15562A>G NP_996816.3:p.Ser5188Gly NC_000001.11:215625827:T:C p.(Ser5188Gly) NC_000001.11:215625827:T:C p.(Ser5188Gly) NC_000001.11:215625827:T:C Identity +NM_007123.6:c.3405G>C NP_009054.6:p.Arg1135Ser NC_000001.11:216200032:C:G p.(Arg1135Ser) NC_000001.11:216200032:C:G p.(Arg1135Ser) NC_000001.11:216200032:C:G Identity +NM_206933.4:c.5612G>A NP_996816.3:p.Gly1871Asp NC_000001.11:216073260:C:T p.(Gly1871Asp) NC_000001.11:216073260:C:T p.(Gly1871Asp) NC_000001.11:216073260:C:T Identity +NM_206933.4:c.9278A>T NP_996816.3:p.Tyr3093Phe NC_000001.11:215838083:T:A p.(Tyr3093Phe) NC_000001.11:215838083:T:A p.(Tyr3093Phe) NC_000001.11:215838083:T:A Identity +LRG_486t1:c.1354G>C LRG_486p1:p.Gly452Arg NC_000009.12:132906814:C:G ERR:Data provider error: ValueError: Transcript LRG_486t1 not found ERR:Data provider error: ValueError: Transcript LRG_486t1 not found ERR:AlignmentMapper(tx_ac=LRG_486t1, alt_ac=LRG_486t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_486t1, alt_ac=LRG_486t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_486t1 not found +NM_133379.5:c.13347A>G NP_596870.2:p.Ile4449Met NC_000002.12:178749052:T:C p.(Ile4449Met) NC_000002.12:178749052:T:C p.(Ile4449Met) NC_000002.12:178749052:T:C Identity +NM_133379.5:c.13364A>G NP_596870.2:p.Lys4455Arg NC_000002.12:178749035:T:C p.(Lys4455Arg) NC_000002.12:178749035:T:C p.(Lys4455Arg) NC_000002.12:178749035:T:C Identity +NM_206933.4:c.5609G>A NP_996816.3:p.Arg1870Gln NC_000001.11:216073263:C:T p.(Arg1870Gln) NC_000001.11:216073263:C:T p.(Arg1870Gln) NC_000001.11:216073263:C:T Identity +NM_000335.5:c.3266C>T NP_000326.2:p.Pro1089Leu NC_000003.12:38579454:G:A p.(Pro1089Leu) NC_000003.12:38579454:G:A p.(Pro1089Leu) NC_000003.12:38579454:G:A Identity +NM_206933.4:c.13297G>T NP_996816.3:p.Val4433Leu NC_000001.11:215674613:C:A p.(Val4433Leu) NC_000001.11:215674613:C:A p.(Val4433Leu) NC_000001.11:215674613:C:A Identity +NM_000368.5:c.308G>A NP_000359.1:p.Trp103Ter NC_000009.12:132925641:C:T p.(Trp103Ter) NC_000009.12:132925641:C:T p.(Trp103Ter) NC_000009.12:132925641:C:T Identity +NM_000368.5:c.2356C>T NP_000359.1:p.Arg786Ter NC_000009.12:132902639:G:A p.(Arg786Ter) NC_000009.12:132902639:G:A p.(Arg786Ter) NC_000009.12:132902639:G:A Identity +NM_000368.5:c.2694del NP_000359.1:p.Thr899fs NC_000009.12:132897541:C: p.(Thr899LeufsTer32) NC_000009.12:132897541:C: p.(Thr899LeufsTer32) NC_000009.12:132897541:C: Analogous +NM_000368.5:c.445C>T NP_000359.1:p.Gln149Ter NC_000009.12:132923410:G:A p.(Gln149Ter) NC_000009.12:132923410:G:A p.(Gln149Ter) NC_000009.12:132923410:G:A Identity +NM_153676.4:c.1906C>T NP_710142.1:p.Arg636Cys NC_000011.10:17509462:G:A p.(Arg636Cys) NC_000011.10:17509462:G:A p.(Arg636Cys) NC_000011.10:17509462:G:A Identity +NM_000503.6:c.1579T>A NP_000494.2:p.Tyr527Asn NC_000008.11:71215404:A:T p.(Tyr527Asn) NC_000008.11:71215404:A:T p.(Tyr527Asn) NC_000008.11:71215404:A:T Identity +NM_001287489.2:c.2153G>A NP_001274418.1:p.Trp718Ter NC_000002.12:26479324:C:T p.(Trp718Ter) NC_000002.12:26479324:C:T p.(Trp718Ter) NC_000002.12:26479324:C:T Identity +NM_194322.3:c.68T>G NP_919303.1:p.Ile23Ser NC_000002.12:26477825:A:C p.(Ile23Ser) NC_000002.12:26477825:A:C p.(Ile23Ser) NC_000002.12:26477825:A:C Identity +NM_000368.5:c.2041G>A NP_000359.1:p.Gly681Ser NC_000009.12:132904410:C:T p.(Gly681Ser) NC_000009.12:132904410:C:T p.(Gly681Ser) NC_000009.12:132904410:C:T Identity +NM_000368.5:c.2106_2107insGTTTA NP_000359.1:p.Leu703fs NC_000009.12:132903752:TAA:TAAACTAA p.(Leu703ValfsTer23) NC_000009.12:132903751:G:TAAAC p.(Leu703ValfsTer23) NC_000009.12:132903752:GT:TAAAC Analogous +NM_000368.5:c.2173_2176del NP_000359.1:p.Lys725fs NC_000009.12:132903682:CTTT: p.(Lys725GlnfsTer11) NC_000009.12:132903682:CTTT: p.(Lys725GlnfsTer11) NC_000009.12:132903682:CTTT: Analogous +NM_000548.5:c.2887G>A NP_000539.2:p.Val963Met NC_000016.10:2077646:G:A p.(Val963Met) NC_000016.10:2077646:G:A p.(Val963Met) NC_000016.10:2077646:G:A Identity +NM_000548.5:c.5227C>T NP_000539.2:p.Arg1743Trp NC_000016.10:2088292:C:T p.(Arg1743Trp) NC_000016.10:2088292:C:T p.(Arg1743Trp) NC_000016.10:2088292:C:T Identity +NM_000368.5:c.694G>T NP_000359.1:p.Glu232Ter NC_000009.12:132921405:C:A p.(Glu232Ter) NC_000009.12:132921405:C:A p.(Glu232Ter) NC_000009.12:132921405:C:A Identity +NM_000548.5:c.4493G>A NP_000539.2:p.Ser1498Asn NC_000016.10:2084714:G:A p.(Ser1498Asn) NC_000016.10:2084714:G:A p.(Ser1498Asn) NC_000016.10:2084714:G:A Identity +NM_000548.5:c.3509C>G NP_000539.2:p.Ser1170Ter NC_000016.10:2080275:C:G p.(Ser1170Ter) NC_000016.10:2080275:C:G p.(Ser1170Ter) NC_000016.10:2080275:C:G Identity +NM_000548.5:c.1336C>T NP_000539.2:p.Gln446Ter NC_000016.10:2062574:C:T p.(Gln446Ter) NC_000016.10:2062574:C:T p.(Gln446Ter) NC_000016.10:2062574:C:T Identity +NM_000548.5:c.4821del NP_000539.2:p.Tyr1608fs NC_000016.10:2086349:CC:C p.(Tyr1608ThrfsTer17) NC_000016.10:2086349:CC:C p.(Tyr1608ThrfsTer17) NC_000016.10:2086350:C: Analogous +NM_000548.5:c.1143_1174del NP_000539.2:p.Thr382fs NC_000016.10:2061892:GGACCATCGTCCATGACCTGTTGACCACGGTGG:G p.(Thr382GlyfsTer4) NC_000016.10:2061892:GGACCATCGTCCATGACCTGTTGACCACGGTGG:G p.(Thr382GlyfsTer4) NC_000016.10:2061893:GACCATCGTCCATGACCTGTTGACCACGGTGG: Analogous +NM_000548.5:c.2328C>A NP_000539.2:p.Tyr776Ter NC_000016.10:2072955:C:A p.(Tyr776Ter) NC_000016.10:2072955:C:A p.(Tyr776Ter) NC_000016.10:2072955:C:A Identity +NM_000548.5:c.5122del NP_000539.2:p.Leu1708fs NC_000016.10:2088099:CC:C p.(Leu1708CysfsTer118) NC_000016.10:2088099:CC:C p.(Leu1708CysfsTer118) NC_000016.10:2088100:C: Analogous +NM_000548.5:c.3782C>A NP_000539.2:p.Ala1261Asp NC_000016.10:2081765:C:A p.(Ala1261Asp) NC_000016.10:2081765:C:A p.(Ala1261Asp) NC_000016.10:2081765:C:A Identity +NM_000548.5:c.2359G>T NP_000539.2:p.Glu787Ter NC_000016.10:2074202:G:T p.(Glu787Ter) NC_000016.10:2074202:G:T p.(Glu787Ter) NC_000016.10:2074202:G:T Identity +NM_000548.5:c.274del NP_000539.2:p.Glu92fs NC_000016.10:2053388:GG:G p.(Glu92SerfsTer14) NC_000016.10:2053388:GG:G p.(Glu92SerfsTer14) NC_000016.10:2053389:G: Analogous +NM_000548.5:c.5231T>C NP_000539.2:p.Leu1744Pro NC_000016.10:2088296:T:C p.(Leu1744Pro) NC_000016.10:2088296:T:C p.(Leu1744Pro) NC_000016.10:2088296:T:C Identity +NM_000548.5:c.4930G>C NP_000539.2:p.Asp1644His NC_000016.10:2086811:G:C p.(Asp1644His) NC_000016.10:2086811:G:C p.(Asp1644His) NC_000016.10:2086811:G:C Identity +NM_000548.5:c.4751T>G NP_000539.2:p.Leu1584Arg NC_000016.10:2086280:T:G p.(Leu1584Arg) NC_000016.10:2086280:T:G p.(Leu1584Arg) NC_000016.10:2086280:T:G Identity +NM_000368.5:c.334_335dup NP_000359.1:p.Leu113fs NC_000009.12:132925614:AGAG:AGAGAG p.(Leu113PhefsTer6) NC_000009.12:132925614:AGAG:AGAGAG p.(Leu113PhefsTer6) ERR:SPDI Analogous +NM_000548.5:c.3099C>A NP_000539.2:p.Tyr1033Ter NC_000016.10:2079163:C:A p.(Tyr1033Ter) NC_000016.10:2079163:C:A p.(Tyr1033Ter) NC_000016.10:2079163:C:A Identity +NM_000548.5:c.586G>A NP_000539.2:p.Ala196Thr NC_000016.10:2055505:G:A p.(Ala196Thr) NC_000016.10:2055505:G:A p.(Ala196Thr) NC_000016.10:2055505:G:A Identity +NM_000548.5:c.4375C>T NP_000539.2:p.Arg1459Ter NC_000016.10:2084596:C:T p.(Arg1459Ter) NC_000016.10:2084596:C:T p.(Arg1459Ter) NC_000016.10:2084596:C:T Identity +NM_006902.5:c.266_269dup NP_008833.1:p.Arg92fs NC_000001.11:170719746:AAAAAAA:AAAAAAAAAAA p.(Arg92GlufsTer8) NC_000001.11:170719746:AAAAAAA:AAAAAAAAAAA p.(Arg92GlufsTer8) ERR:SPDI Analogous +NM_001033053.3:c.230T>C NP_001028225.1:p.Met77Thr NC_000017.11:5583727:A:G p.(Met77Thr) NC_000017.11:5583727:A:G p.(Met77Thr) NC_000017.11:5583727:A:G Identity +NM_000548.5:c.3198dup NP_000539.2:p.Val1067fs NC_000016.10:2079340:TT:TTT p.(Val1067CysfsTer101) NC_000016.10:2079340:TT:TTT p.(Val1067CysfsTer101) ERR:SPDI Analogous +NM_000548.5:c.2198T>C NP_000539.2:p.Leu733Pro NC_000016.10:2072340:T:C p.(Leu733Pro) NC_000016.10:2072340:T:C p.(Leu733Pro) NC_000016.10:2072340:T:C Identity +NM_000548.5:c.3643_3644insTG NP_000539.2:p.Pro1215fs NC_000016.10:2081627::TG p.(Pro1215LeufsTer111) NC_000016.10:2081626:C:TG p.(Pro1215LeufsTer111) NC_000016.10:2081627:CC:TG Analogous +NM_000059.4:c.1568A>T NP_000050.3:p.His523Leu NC_000013.11:32333045:A:T p.(His523Leu) NC_000013.11:32333045:A:T p.(His523Leu) NC_000013.11:32333045:A:T Identity +NM_000059.4:c.1804G>A NP_000050.3:p.Gly602Arg NC_000013.11:32333281:G:A p.(Gly602Arg) NC_000013.11:32333281:G:A p.(Gly602Arg) NC_000013.11:32333281:G:A Identity +NM_000059.4:c.1820A>C NP_000050.3:p.Lys607Thr NC_000013.11:32333297:A:C p.(Lys607Thr) NC_000013.11:32333297:A:C p.(Lys607Thr) NC_000013.11:32333297:A:C Identity +NM_000059.4:c.2150del NP_000050.3:p.Cys717fs NC_000013.11:32336504:G: p.(Cys717LeufsTer13) NC_000013.11:32336504:G: p.(Cys717LeufsTer13) NC_000013.11:32336504:G: Analogous +NM_001293312.1:c.1159C>T NP_001280241.1:p.Arg387Cys NC_000002.12:135907362:G:A p.(Arg387Cys) NC_000002.12:135907362:G:A p.(Arg387Cys) NC_000002.12:135907362:G:A Identity +NM_000059.4:c.2094del NP_000050.3:p.Gln699fs NC_000013.11:32336448:A: p.(Gln699SerfsTer31) NC_000013.11:32336448:A: p.(Gln699SerfsTer31) NC_000013.11:32336448:A: Analogous +NM_000059.4:c.2254_2257del NP_000050.3:p.Asp752fs NC_000013.11:32336605:ACTGACT:ACT p.(Asp752PhefsTer19) NC_000013.11:32336605:ACTGACT:ACT p.(Asp752PhefsTer19) NC_000013.11:32336608:GACT: Analogous +NM_000059.4:c.22_23del NP_000050.3:p.Arg8fs NC_000013.11:32316477:AGAGAG:AGAG p.(Arg8AlafsTer5) NC_000013.11:32316477:AGAGAG:AGAG p.(Arg8AlafsTer5) NC_000013.11:32316481:AG: Analogous +NM_000059.4:c.2402_2412del NP_000050.3:p.Asn801fs NC_000013.11:32336755:AACAATTATGAA:A p.(Asn801IlefsTer2) NC_000013.11:32336755:AACAATTATGAA:A p.(Asn801IlefsTer2) NC_000013.11:32336756:ACAATTATGAA: Analogous +NM_000059.4:c.2774_2775del NP_000050.3:p.Ser925fs NC_000013.11:32337126:CTCT:CT p.(Ser925TyrfsTer10) NC_000013.11:32337126:CTCT:CT p.(Ser925TyrfsTer10) NC_000013.11:32337128:CT: Analogous +NM_000059.4:c.3536G>A NP_000050.3:p.Ser1179Asn NC_000013.11:32337890:G:A p.(Ser1179Asn) NC_000013.11:32337890:G:A p.(Ser1179Asn) NC_000013.11:32337890:G:A Identity +NM_000059.4:c.273C>A NP_000050.3:p.Tyr91Ter NC_000013.11:32319281:C:A p.(Tyr91Ter) NC_000013.11:32319281:C:A p.(Tyr91Ter) NC_000013.11:32319281:C:A Identity +NM_000059.4:c.2854G>T NP_000050.3:p.Ala952Ser NC_000013.11:32337208:G:T p.(Ala952Ser) NC_000013.11:32337208:G:T p.(Ala952Ser) NC_000013.11:32337208:G:T Identity +NM_000059.4:c.2957A>G NP_000050.3:p.Asn986Ser NC_000013.11:32337311:A:G p.(Asn986Ser) NC_000013.11:32337311:A:G p.(Asn986Ser) NC_000013.11:32337311:A:G Identity +NM_000059.4:c.3554_3563del NP_000050.3:p.Thr1185fs NC_000013.11:32337908:CAGTTGAAAT: p.(Thr1185IlefsTer9) NC_000013.11:32337908:CAGTTGAAAT: p.(Thr1185IlefsTer9) NC_000013.11:32337908:CAGTTGAAAT: Analogous +NM_000059.4:c.3043A>T NP_000050.3:p.Lys1015Ter NC_000013.11:32337397:A:T p.(Lys1015Ter) NC_000013.11:32337397:A:T p.(Lys1015Ter) NC_000013.11:32337397:A:T Identity +NM_000059.4:c.3661T>C NP_000050.3:p.Ser1221Pro NC_000013.11:32338015:T:C p.(Ser1221Pro) NC_000013.11:32338015:T:C p.(Ser1221Pro) NC_000013.11:32338015:T:C Identity +NM_000059.4:c.3905C>A NP_000050.3:p.Thr1302Asn NC_000013.11:32338259:C:A p.(Thr1302Asn) NC_000013.11:32338259:C:A p.(Thr1302Asn) NC_000013.11:32338259:C:A Identity +NM_000059.4:c.4926_4935del NP_000050.3:p.Asn1642fs NC_000013.11:32339276:AAAATGTAGAAAAA:AAAA p.(Asn1642LysfsTer25) NC_000013.11:32339276:AAAATGTAGAAAAA:AAAA p.(Asn1642LysfsTer25) NC_000013.11:32339280:TGTAGAAAAA: Analogous +NM_000059.4:c.4046T>C NP_000050.3:p.Ile1349Thr NC_000013.11:32338400:T:C p.(Ile1349Thr) NC_000013.11:32338400:T:C p.(Ile1349Thr) NC_000013.11:32338400:T:C Identity +NM_000059.4:c.4935del NP_000050.3:p.Glu1646fs NC_000013.11:32339285:AAAAA:AAAA p.(Glu1646LysfsTer24) NC_000013.11:32339285:AAAAA:AAAA p.(Glu1646LysfsTer24) NC_000013.11:32339289:A: Analogous +NM_000548.5:c.4289G>A NP_000539.2:p.Trp1430Ter NC_000016.10:2084510:G:A p.(Trp1430Ter) NC_000016.10:2084510:G:A p.(Trp1430Ter) NC_000016.10:2084510:G:A Identity +NM_000059.4:c.5702_5703del NP_000050.3:p.Glu1901fs NC_000013.11:32340054:AGAG:AG p.(Glu1901GlyfsTer5) NC_000013.11:32340054:AGAG:AG p.(Glu1901GlyfsTer5) NC_000013.11:32340056:AG: Analogous +NM_000059.4:c.5946_5950del NP_000050.3:p.Ser1982fs NC_000013.11:32340300:TGGAA: p.(Ser1982ArgfsTer19) NC_000013.11:32340300:TGGAA: p.(Ser1982ArgfsTer19) NC_000013.11:32340300:TGGAA: Analogous +NM_000059.4:c.5167A>G NP_000050.3:p.Thr1723Ala NC_000013.11:32339521:A:G p.(Thr1723Ala) NC_000013.11:32339521:A:G p.(Thr1723Ala) NC_000013.11:32339521:A:G Identity +NM_000059.4:c.518G>T NP_000050.3:p.Gly173Val NC_000013.11:32326499:G:T p.(Gly173Val) NC_000013.11:32326499:G:T p.(Gly173Val) NC_000013.11:32326499:G:T Identity +NM_000059.4:c.5542del NP_000050.3:p.Ser1848fs NC_000013.11:32339896:A: p.(Ser1848ValfsTer15) NC_000013.11:32339896:A: p.(Ser1848ValfsTer15) NC_000013.11:32339896:A: Analogous +NM_000059.4:c.5789T>A NP_000050.3:p.Leu1930Ter NC_000013.11:32340143:T:A p.(Leu1930Ter) NC_000013.11:32340143:T:A p.(Leu1930Ter) NC_000013.11:32340143:T:A Identity +NM_000059.4:c.5del NP_000050.3:p.Pro2fs NC_000013.11:32316463:CC:C p.(Pro2LeufsTer23) NC_000013.11:32316463:CC:C p.(Pro2LeufsTer23) NC_000013.11:32316464:C: Analogous +NM_000059.4:c.5020A>G NP_000050.3:p.Ser1674Gly NC_000013.11:32339374:A:G p.(Ser1674Gly) NC_000013.11:32339374:A:G p.(Ser1674Gly) NC_000013.11:32339374:A:G Identity +NM_000059.4:c.5804A>G NP_000050.3:p.Asn1935Ser NC_000013.11:32340158:A:G p.(Asn1935Ser) NC_000013.11:32340158:A:G p.(Asn1935Ser) NC_000013.11:32340158:A:G Identity +NM_000059.4:c.7234_7235insG NP_000050.3:p.Thr2412fs NC_000013.11:32355087::G p.(Thr2412SerfsTer2) NC_000013.11:32355086:A:G p.(Thr2412SerfsTer2) NC_000013.11:32355087:AC:G Analogous +NM_000059.4:c.7505G>A NP_000050.3:p.Arg2502His NC_000013.11:32356496:G:A p.(Arg2502His) NC_000013.11:32356496:G:A p.(Arg2502His) NC_000013.11:32356496:G:A Identity +NM_000548.5:c.956dup NP_000539.2:p.Leu320fs NC_000016.10:2058853:T:TT p.(Leu320ValfsTer18) NC_000016.10:2058853:T:TT p.(Leu320ValfsTer18) ERR:SPDI Analogous +NM_000548.5:c.5056C>T NP_000539.2:p.Gln1686Ter NC_000016.10:2087928:C:T p.(Gln1686Ter) NC_000016.10:2087928:C:T p.(Gln1686Ter) NC_000016.10:2087928:C:T Identity +NM_000059.4:c.7047del NP_000050.3:p.Phe2349fs NC_000013.11:32354896:TTTT:TTT p.(Phe2349LeufsTer18) NC_000013.11:32354896:TTTT:TTT p.(Phe2349LeufsTer18) NC_000013.11:32354899:T: Analogous +NM_000059.4:c.72A>T NP_000050.3:p.Leu24Phe NC_000013.11:32319080:A:T p.(Leu24Phe) NC_000013.11:32319080:A:T p.(Leu24Phe) NC_000013.11:32319080:A:T Identity +NM_000059.4:c.6420_6421insA NP_000050.3:p.Gly2141fs NC_000013.11:32340775::A p.(Gly2141ArgfsTer6) NC_000013.11:32340774:T:A p.(Gly2141ArgfsTer6) NC_000013.11:32340775:TG:A Analogous +NM_000059.4:c.6634_6637del NP_000050.3:p.Cys2212fs NC_000013.11:32340985:GTTTGTT:GTT p.(Cys2212LeufsTer16) NC_000013.11:32340985:GTTTGTT:GTT p.(Cys2212LeufsTer16) NC_000013.11:32340988:TGTT: Analogous +NM_000059.4:c.6683T>C NP_000050.3:p.Val2228Ala NC_000013.11:32341037:T:C p.(Val2228Ala) NC_000013.11:32341037:T:C p.(Val2228Ala) NC_000013.11:32341037:T:C Identity +NM_000059.4:c.7696G>T NP_000050.3:p.Asp2566Tyr NC_000013.11:32357819:G:T p.(Asp2566Tyr) NC_000013.11:32357819:G:T p.(Asp2566Tyr) NC_000013.11:32357819:G:T Identity +NM_000059.4:c.8489G>A NP_000050.3:p.Trp2830Ter NC_000013.11:32370956:G:A p.(Trp2830Ter) NC_000013.11:32370956:G:A p.(Trp2830Ter) NC_000013.11:32370956:G:A Identity +NM_000059.4:c.8215G>A NP_000050.3:p.Val2739Ile NC_000013.11:32363416:G:A p.(Val2739Ile) NC_000013.11:32363416:G:A p.(Val2739Ile) NC_000013.11:32363416:G:A Identity +NM_000059.4:c.8415_8416del NP_000050.3:p.Leu2805fs NC_000013.11:32370483:TAT:T p.(Leu2805PhefsTer6) NC_000013.11:32370483:TAT:T p.(Leu2805PhefsTer6) NC_000013.11:32370484:AT: Analogous +NM_000059.4:c.8629G>T NP_000050.3:p.Glu2877Ter NC_000013.11:32371096:G:T p.(Glu2877Ter) NC_000013.11:32371096:G:T p.(Glu2877Ter) NC_000013.11:32371096:G:T Identity +NM_000059.4:c.8730del NP_000050.3:p.Asn2910fs NC_000013.11:32376766:T: p.(Asn2910LysfsTer17) NC_000013.11:32376766:T: p.(Asn2910LysfsTer17) NC_000013.11:32376766:T: Analogous +NM_000548.5:c.5228G>C NP_000539.2:p.Arg1743Pro NC_000016.10:2088293:G:C p.(Arg1743Pro) NC_000016.10:2088293:G:C p.(Arg1743Pro) NC_000016.10:2088293:G:C Identity +NM_000548.5:c.4733T>C NP_000539.2:p.Leu1578Pro NC_000016.10:2086262:T:C p.(Leu1578Pro) NC_000016.10:2086262:T:C p.(Leu1578Pro) NC_000016.10:2086262:T:C Identity +NM_000059.4:c.7610A>G NP_000050.3:p.His2537Arg NC_000013.11:32356601:A:G p.(His2537Arg) NC_000013.11:32356601:A:G p.(His2537Arg) NC_000013.11:32356601:A:G Identity +NM_000059.4:c.8988_8990delinsTT NP_000050.3:p.Leu2996fs NC_000013.11:32379783:ATA:TT p.(Leu2996PhefsTer5) NC_000013.11:32379783:ATA:TT p.(Leu2996PhefsTer5) NC_000013.11:32379783:ATA:TT Analogous +NM_000059.4:c.9610A>G NP_000050.3:p.Thr3204Ala NC_000013.11:32397005:A:G p.(Thr3204Ala) NC_000013.11:32397005:A:G p.(Thr3204Ala) NC_000013.11:32397005:A:G Identity +NM_000059.4:c.9658C>T NP_000050.3:p.Pro3220Ser NC_000013.11:32398170:C:T p.(Pro3220Ser) NC_000013.11:32398170:C:T p.(Pro3220Ser) NC_000013.11:32398170:C:T Identity +NM_000059.4:c.9455_9456del NP_000050.3:p.Glu3152fs NC_000013.11:32394884:AGAG:AG p.(Glu3152GlyfsTer15) NC_000013.11:32394884:AGAG:AG p.(Glu3152GlyfsTer15) NC_000013.11:32394886:AG: Analogous +LRG_287t1:c.772C>A LRG_287p1:p.His258Asn NC_000011.10:2572100:C:A ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_000548.5:c.1649_1650insACAT NP_000539.2:p.Ala551fs NC_000016.10:2065567:T:TACAT p.(Ala551HisfsTer39) NC_000016.10:2065567:T:ACAT p.(Ala551HisfsTer39) NC_000016.10:2065568:TG:ACAT Analogous +NM_000059.4:c.8676del NP_000050.3:p.Arg2892fs NC_000013.11:32376712:A: p.(Arg2892SerfsTer17) NC_000013.11:32376712:A: p.(Arg2892SerfsTer17) NC_000013.11:32376712:A: Analogous +LRG_287t1:c.794C>T LRG_287p1:p.Thr265Ile NC_000011.10:2572858:C:T ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_287t1:c.797T>C LRG_287p1:p.Leu266Pro NC_000011.10:2572861:T:C ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_287t1:c.958C>G LRG_287p1:p.Pro320Ala NC_000011.10:2583470:C:G ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_000492.4:c.-9_14del NP_000483.3:p.Met1fs NC_000007.14:117480081:CGCCCGAGAGACCATGCAGAGGTCGCC:CGCC p.(Met1GlyfsTer36) NC_000007.14:117480081:CGCCCGAGAGACCATGCAGAGGTCGCC:CGCC p.Met1? NC_000007.14:117480085:CGAGAGACCATGCAGAGGTCGCC: Analogous +NM_000492.4:c.1037T>C NP_000483.3:p.Leu346Pro NC_000007.14:117540266:T:C p.(Leu346Pro) NC_000007.14:117540266:T:C p.(Leu346Pro) NC_000007.14:117540266:T:C Identity +NM_000492.4:c.1516A>C NP_000483.3:p.Ile506Leu NC_000007.14:117559586:A:C p.(Ile506Leu) NC_000007.14:117559586:A:C p.(Ile506Leu) NC_000007.14:117559586:A:C Identity +NM_000492.4:c.1678A>G NP_000483.3:p.Arg560Gly NC_000007.14:117587831:A:G p.(Arg560Gly) NC_000007.14:117587831:A:G p.(Arg560Gly) NC_000007.14:117587831:A:G Identity +NM_000492.4:c.1763A>T NP_000483.3:p.Glu588Val NC_000007.14:117590435:A:T p.(Glu588Val) NC_000007.14:117590435:A:T p.(Glu588Val) NC_000007.14:117590435:A:T Identity +NM_000059.4:c.9637A>G NP_000050.3:p.Asn3213Asp NC_000013.11:32397032:A:G p.(Asn3213Asp) NC_000013.11:32397032:A:G p.(Asn3213Asp) NC_000013.11:32397032:A:G Identity +NM_000059.4:c.9883C>T NP_000050.3:p.Gln3295Ter NC_000013.11:32398395:C:T p.(Gln3295Ter) NC_000013.11:32398395:C:T p.(Gln3295Ter) NC_000013.11:32398395:C:T Identity +LRG_287t1:c.1700T>G LRG_287p1:p.Ile567Ser NC_000011.10:2776999:T:G ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_000492.4:c.2918T>C NP_000483.3:p.Leu973Pro NC_000007.14:117606682:T:C p.(Leu973Pro) NC_000007.14:117606682:T:C p.(Leu973Pro) NC_000007.14:117606682:T:C Identity +NM_000492.4:c.3430C>T NP_000483.3:p.Gln1144Ter NC_000007.14:117614674:C:T p.(Gln1144Ter) NC_000007.14:117614674:C:T p.(Gln1144Ter) NC_000007.14:117614674:C:T Identity +NM_000492.4:c.3461A>G NP_000483.3:p.Asp1154Gly NC_000007.14:117614705:A:G p.(Asp1154Gly) NC_000007.14:117614705:A:G p.(Asp1154Gly) NC_000007.14:117614705:A:G Identity +NM_000492.4:c.3915T>A NP_000483.3:p.Asp1305Glu NC_000007.14:117652882:T:A p.(Asp1305Glu) NC_000007.14:117652882:T:A p.(Asp1305Glu) NC_000007.14:117652882:T:A Identity +LRG_663t1:c.4252G>T LRG_663p1:p.Glu1418Ter NC_000007.14:117666916:G:T ERR:Data provider error: ValueError: Transcript LRG_663t1 not found ERR:Data provider error: ValueError: Transcript LRG_663t1 not found ERR:AlignmentMapper(tx_ac=LRG_663t1, alt_ac=LRG_663t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_663t1, alt_ac=LRG_663t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_663t1 not found +NM_000492.4:c.581G>T NP_000483.3:p.Gly194Val NC_000007.14:117535248:G:T p.(Gly194Val) NC_000007.14:117535248:G:T p.(Gly194Val) NC_000007.14:117535248:G:T Identity +NM_000492.4:c.695T>A NP_000483.3:p.Val232Asp NC_000007.14:117535362:T:A p.(Val232Asp) NC_000007.14:117535362:T:A p.(Val232Asp) NC_000007.14:117535362:T:A Identity +NM_000492.4:c.1466C>A NP_000483.3:p.Ser489Ter NC_000007.14:117559536:C:A p.(Ser489Ter) NC_000007.14:117559536:C:A p.(Ser489Ter) NC_000007.14:117559536:C:A Identity +NM_001407571.1:c.1252G>A NP_001394500.1:p.Glu418Lys NC_000017.11:43094065:C:T p.(Glu418Lys) NC_000017.11:43094065:C:T p.(Glu418Lys) NC_000017.11:43094065:C:T Identity +NM_001407964.1:c.1603A>T NP_001394893.1:p.Lys535Ter NC_000017.11:43093783:T:A p.(Lys535Ter) NC_000017.11:43093783:T:A p.(Lys535Ter) NC_000017.11:43093783:T:A Identity +NM_000492.4:c.1730A>T NP_000483.3:p.Tyr577Phe NC_000007.14:117590402:A:T p.(Tyr577Phe) NC_000007.14:117590402:A:T p.(Tyr577Phe) NC_000007.14:117590402:A:T Identity +NM_001407581.1:c.179delA NP_001394510.1:p.Gln60Argfs NC_000017.11:43106488:T: p.(Gln60ArgfsTer9) NC_000017.11:43106488:T: p.(Gln60ArgfsTer9) NC_000017.11:43106488:T: Analogous +NM_001407571.1:c.1748dup NP_001394500.1:p.Tyr584fs NC_000017.11:43093569:TTTTTTTT:TTTTTTTTT p.(Tyr584ValfsTer18) NC_000017.11:43093569:TTTTTTTT:TTTTTTTTT p.(Tyr584ValfsTer18) ERR:SPDI Analogous +NM_001407571.1:c.1736_1737del NP_001394500.1:p.Ile579fs NC_000017.11:43093580:TAT:T p.(Ile579LysfsTer22) NC_000017.11:43093580:TAT:T p.(Ile579LysfsTer22) NC_000017.11:43093580:TA: Analogous +LRG_292t1:c.1985A>G LRG_292p1:p.His662Arg NC_000017.11:43093545:T:C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407571.1:c.2199G>C NP_001394500.1:p.Gln733His NC_000017.11:43093118:C:G p.(Gln733His) NC_000017.11:43093118:C:G p.(Gln733His) NC_000017.11:43093118:C:G Identity +NM_000492.4:c.3605del NP_000483.3:p.Asp1202fs NC_000007.14:117627657:A: p.(Asp1202AlafsTer9) NC_000007.14:117627657:A: p.(Asp1202AlafsTer9) NC_000007.14:117627657:A: Analogous +NM_000492.4:c.3612G>A NP_000483.3:p.Trp1204Ter NC_000007.14:117627664:G:A p.(Trp1204Ter) NC_000007.14:117627664:G:A p.(Trp1204Ter) NC_000007.14:117627664:G:A Identity +NM_000492.4:c.3908A>T NP_000483.3:p.Asn1303Ile NC_000007.14:117652875:A:T p.(Asn1303Ile) NC_000007.14:117652875:A:T p.(Asn1303Ile) NC_000007.14:117652875:A:T Identity +NM_001407571.1:c.1892T>G NP_001394500.1:p.Leu631Ter NC_000017.11:43093425:A:C p.(Leu631Ter) NC_000017.11:43093425:A:C p.(Leu631Ter) NC_000017.11:43093425:A:C Identity +LRG_292t1:c.2263del LRG_292p1:p.Glu755Lysfs NC_000017.11:43093267:C: ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +LRG_292t1:c.2611_2612del LRG_292p1:p.Pro871Valfs NC_000017.11:43092918:GG: ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407845.1:c.2601dup NP_001394774.1:p.Asn868Ter NC_000017.11:43092785:A:AA p.(Asn868Ter) NC_000017.11:43092785:A:AA p.(Asn868Ter) ERR:SPDI Identity +NM_001407571.1:c.2595_2598del NP_001394500.1:p.Lys866fs NC_000017.11:43092719:CTTA: p.(Lys866GlnfsTer62) NC_000017.11:43092719:CTTA: p.(Lys866GlnfsTer62) NC_000017.11:43092719:CTTA: Analogous +NM_000059.4:c.3096_3110delinsT NP_000050.3:p.Lys1032fs NC_000013.11:32337450:AGATATTGAAGAACA:T p.(Asp1033LeufsTer4) NC_000013.11:32337449:AAGATATTGAAGAACAA:AAT p.(Lys1032AsnfsTer5) NC_000013.11:32337450:AGATATTGAAGAACA:T Analogous +NM_001407571.1:c.2618GTA[1] NP_001394500.1:p.Ser874del NC_000017.11:43092694:TACTAC:TAC p.(Ser874del) NC_000017.11:43092699:C:TAC ERR:Parse ERR:Parse Identity +NM_001407571.1:c.3385C>T NP_001394500.1:p.Gln1129Ter NC_000017.11:43091932:G:A p.(Gln1129Ter) NC_000017.11:43091932:G:A p.(Gln1129Ter) NC_000017.11:43091932:G:A Identity +NM_001407668.1:c.3484C>G NP_001394597.1:p.Arg1162Gly NC_000017.11:43091923:G:C p.(Arg1162Gly) NC_000017.11:43091923:G:C p.(Arg1162Gly) NC_000017.11:43091923:G:C Identity +NM_001407889.1:c.2770del NP_001394818.1:p.Cys924fs NC_000017.11:43092550:A: p.(Cys924ValfsTer6) NC_000017.11:43092550:A: p.(Cys924ValfsTer6) NC_000017.11:43092550:A: Analogous +NM_001407571.1:c.3290dup NP_001394500.1:p.Asn1097fs NC_000017.11:43092027:TTTT:TTTTT p.(Asn1097LysfsTer2) NC_000017.11:43092027:TTTT:TTTTT p.(Asn1097LysfsTer2) ERR:SPDI Analogous +NM_000492.4:c.992T>A NP_000483.3:p.Ile331Asn NC_000007.14:117540221:T:A p.(Ile331Asn) NC_000007.14:117540221:T:A p.(Ile331Asn) NC_000007.14:117540221:T:A Identity +NM_001407727.1:c.1073C>A NP_001394656.1:p.Ser358Ter NC_000017.11:43094316:G:T p.(Ser358Ter) NC_000017.11:43094316:G:T p.(Ser358Ter) NC_000017.11:43094316:G:T Identity +NM_001407571.1:c.1193C>G NP_001394500.1:p.Ala398Gly NC_000017.11:43094124:G:C p.(Ala398Gly) NC_000017.11:43094124:G:C p.(Ala398Gly) NC_000017.11:43094124:G:C Identity +NM_000059.4:c.4001T>A NP_000050.3:p.Leu1334Ter NC_000013.11:32338355:T:A p.(Leu1334Ter) NC_000013.11:32338355:T:A p.(Leu1334Ter) NC_000013.11:32338355:T:A Identity +NM_000059.4:c.410del NP_000050.3:p.Ser137fs NC_000013.11:32325168:C: p.(Ser137PhefsTer15) NC_000013.11:32325168:C: p.(Ser137PhefsTer15) NC_000013.11:32325168:C: Analogous +NM_001407936.1:c.3665del NP_001394865.1:p.Asn1222fs NC_000017.11:43091598:TTT:TT p.(Asn1222ThrfsTer7) NC_000017.11:43091598:TTT:TT p.(Asn1222ThrfsTer7) NC_000017.11:43091598:T: Analogous +NM_001407571.1:c.4418C>T NP_001394500.1:p.Pro1473Leu NC_000017.11:43074374:G:A p.(Pro1473Leu) NC_000017.11:43074374:G:A p.(Pro1473Leu) NC_000017.11:43074374:G:A Identity +LRG_292t1:c.3803A>G LRG_292p1:p.Asn1268Ser NC_000017.11:43091727:T:C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407571.1:c.3820GAA[1] NP_001394500.1:p.Glu1275del NC_000017.11:43091492:TTCTTC:TTC p.(Glu1275del) NC_000017.11:43091497:C:TTC ERR:Parse ERR:Parse Identity +NM_001407925.1:c.3947T>C NP_001394854.1:p.Leu1316Pro NC_000017.11:43082549:A:G p.(Leu1316Pro) NC_000017.11:43082549:A:G p.(Leu1316Pro) NC_000017.11:43082549:A:G Identity +NM_001407571.1:c.1783del NP_001394500.1:p.Leu595fs NC_000017.11:43093534:GG:G p.(Leu595TyrfsTer35) NC_000017.11:43093534:GG:G p.(Leu595TyrfsTer35) NC_000017.11:43093534:G: Analogous +NM_001408467.1:c.80_83delAAGA NP_001395396.1:p.Glu28Valfs NC_000017.11:43104941:CTTTCTT:CTT p.(Glu28ValfsTer12) NC_000017.11:43104941:CTTTCTT:CTT p.(Glu28ValfsTer12) NC_000017.11:43104944:TCTT: Analogous +NM_001408500.1:c.1079_1082delCTTA NP_001395429.1:p.Tyr361Cysfs NC_000017.11:43074347:AAGTAAG:AAG p.(Tyr361CysfsTer6) NC_000017.11:43074347:AAGTAAG:AAG p.(Tyr361CysfsTer6) NC_000017.11:43074350:TAAG: Analogous +NM_001407952.1:c.4948delA NP_001394881.1:p.Arg1650Glyfs NC_000017.11:43051110:T: p.(Arg1650GlyfsTer3) NC_000017.11:43051110:T: p.(Arg1650GlyfsTer3) NC_000017.11:43051110:T: Analogous +NM_000059.4:c.4947_4948del NP_000050.3:p.Pro1651fs NC_000013.11:32339298:AAAAA:AAA p.(Pro1651CysfsTer14) NC_000013.11:32339298:AAAAA:AAA p.(Pro1651CysfsTer14) NC_000013.11:32339301:AA: Analogous +NM_000059.4:c.538_539del NP_000050.3:p.Ile180fs NC_000013.11:32326517:ATAT:AT p.(Ile180PhefsTer2) NC_000013.11:32326517:ATAT:AT p.(Ile180PhefsTer2) NC_000013.11:32326519:AT: Analogous +NM_000059.4:c.5839C>T NP_000050.3:p.Pro1947Ser NC_000013.11:32340193:C:T p.(Pro1947Ser) NC_000013.11:32340193:C:T p.(Pro1947Ser) NC_000013.11:32340193:C:T Identity +NM_001407571.1:c.399G>C NP_001394500.1:p.Leu133Phe NC_000017.11:43095903:C:G p.(Leu133Phe) NC_000017.11:43095903:C:G p.(Leu133Phe) NC_000017.11:43095903:C:G Identity +NM_001407571.1:c.596del NP_001394500.1:p.His199fs NC_000017.11:43094721:T: p.(His199LeufsTer28) NC_000017.11:43094721:T: p.(His199LeufsTer28) NC_000017.11:43094721:T: Analogous +NM_001407652.1:c.815_824dup NP_001394581.1:p.Thr276fs NC_000017.11:43094706:CCACATGGCTCCACATG:CCACATGGCTCCACATGGCTCCACATG p.(Thr276AlafsTer14) NC_000017.11:43094706:CCACATGGCTCCACATG:CCACATGGCTCCACATGGCTCCACATG p.(Thr276AlafsTer14) ERR:SPDI Analogous +NM_000059.4:c.6302del NP_000050.3:p.Asn2101fs NC_000013.11:32340653:AAAA:AAA p.(Asn2101MetfsTer18) NC_000013.11:32340653:AAAA:AAA p.(Asn2101MetfsTer18) NC_000013.11:32340656:A: Analogous +NM_000059.4:c.6877T>C NP_000050.3:p.Phe2293Leu NC_000013.11:32344592:T:C p.(Phe2293Leu) NC_000013.11:32344592:T:C p.(Phe2293Leu) NC_000013.11:32344592:T:C Identity +NM_001330437.2:c.179G>T NP_001317366.1:p.Gly60Val NC_000012.12:112450358:G:T p.(Gly60Val) NC_000012.12:112450358:G:T p.(Gly60Val) NC_000012.12:112450358:G:T Identity +NM_000170.3:c.2519T>A NP_000161.2:p.Met840Lys NC_000009.12:6550852:A:T p.(Met840Lys) NC_000009.12:6550852:A:T p.(Met840Lys) NC_000009.12:6550852:A:T Identity +NM_000243.3:c.2060G>A NP_000234.1:p.Gly687Asp NC_000016.10:3243426:C:T p.(Gly687Asp) NC_000016.10:3243426:C:T p.(Gly687Asp) NC_000016.10:3243426:C:T Identity +NM_000310.4:c.739T>C NP_000301.1:p.Tyr247His NC_000001.11:40076900:A:G p.(Tyr247His) NC_000001.11:40076900:A:G p.(Tyr247His) NC_000001.11:40076900:A:G Identity +NM_000059.4:c.8084C>T NP_000050.3:p.Ser2695Leu NC_000013.11:32363285:C:T p.(Ser2695Leu) NC_000013.11:32363285:C:T p.(Ser2695Leu) NC_000013.11:32363285:C:T Identity +NM_000086.2:c.1056G>C NP_000077.1:p.Gln352His NC_000016.10:28482104:C:G p.(Gln352His) NC_000016.10:28482104:C:G p.(Gln352His) NC_000016.10:28482104:C:G Identity +NM_001080522.2:c.2773C>T NP_001073991.2:p.Arg925Ter NC_000004.12:15557450:C:T p.(Arg925Ter) NC_000004.12:15557450:C:T p.(Arg925Ter) NC_000004.12:15557450:C:T Identity +NM_001126105.3:c.371T>C NP_001119577.1:p.Leu124Pro NC_000014.9:22813027:A:G p.(Leu124Pro) NC_000014.9:22813027:A:G p.(Leu124Pro) NC_000014.9:22813027:A:G Identity +NM_001407628.1:c.3395T>G NP_001394557.1:p.Leu1132Ter NC_000017.11:43092132:A:C p.(Leu1132Ter) NC_000017.11:43092132:A:C p.(Leu1132Ter) NC_000017.11:43092132:A:C Identity +NM_001408459.1:c.782T>C NP_001395388.1:p.Met261Thr NC_000017.11:43082528:A:G p.(Met261Thr) NC_000017.11:43082528:A:G p.(Met261Thr) NC_000017.11:43082528:A:G Identity +NM_017890.5:c.6687del NP_060360.3:p.Gln2229fs NC_000008.11:99717326:AA:A p.(Gln2229HisfsTer10) NC_000008.11:99717326:AA:A p.(Gln2229HisfsTer10) NC_000008.11:99717327:A: Analogous +NM_001142301.1:c.10T>A NP_001135773.1:p.Ser4Thr NC_000008.11:93758556:T:A p.(Ser4Thr) NC_000008.11:93758556:T:A p.(Ser4Thr) NC_000008.11:93758556:T:A Identity +NM_000059.4:c.8482A>G NP_000050.3:p.Ile2828Val NC_000013.11:32370551:A:G p.(Ile2828Val) NC_000013.11:32370551:A:G p.(Ile2828Val) NC_000013.11:32370551:A:G Identity +NM_000059.4:c.880G>T NP_000050.3:p.Glu294Ter NC_000013.11:32332357:G:T p.(Glu294Ter) NC_000013.11:32332357:G:T p.(Glu294Ter) NC_000013.11:32332357:G:T Identity +NM_001366624.2:c.473G>C NP_001353553.1:p.Trp158Ser NC_000013.11:76996034:G:C p.(Trp158Ser) NC_000013.11:76996034:G:C p.(Trp158Ser) NC_000013.11:76996034:G:C Identity +NM_017890.5:c.5737dup NP_060360.3:p.Ile1913fs NC_000008.11:99642245:AAAAAAA:AAAAAAAA p.(Ile1913AsnfsTer7) NC_000008.11:99642245:AAAAAAA:AAAAAAAA p.(Ile1913AsnfsTer7) ERR:SPDI Analogous +NM_025114.4:c.1984C>T NP_079390.3:p.Gln662Ter NC_000012.12:88114487:G:A p.(Gln662Ter) NC_000012.12:88114487:G:A p.(Gln662Ter) NC_000012.12:88114487:G:A Identity +NM_020435.4:c.787G>A NP_065168.2:p.Glu263Lys NC_000001.11:228158544:G:A p.(Glu263Lys) NC_000001.11:228158544:G:A p.(Glu263Lys) NC_000001.11:228158544:G:A Identity +NM_001408407.1:c.502C>T NP_001395336.1:p.Gln168Ter NC_000017.11:43099816:G:A p.(Gln168Ter) NC_000017.11:43099816:G:A p.(Gln168Ter) NC_000017.11:43099816:G:A Identity +NM_001407571.1:c.4889_4890delTG NP_001394500.1:p.Leu1630Glnfs NC_000017.11:43063922:CA: p.(Leu1630GlnfsTer14) NC_000017.11:43063922:CA: p.(Leu1630GlnfsTer14) NC_000017.11:43063922:CA: Analogous +LRG_287t1:c.1031C>T LRG_287p1:p.Ala344Val NC_000011.10:2583543:C:T ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_001363907.1:c.352A>G NP_001350836.1:p.Lys118Glu NC_000016.10:85909136:A:G p.(Lys118Glu) NC_000016.10:85909136:A:G p.(Lys118Glu) NC_000016.10:85909136:A:G Identity +NM_080605.4:c.466G>A NP_542172.2:p.Asp156Asn NC_000001.11:1232743:G:A p.(Asp156Asn) NC_000001.11:1232743:G:A p.(Asp156Asn) NC_000001.11:1232743:G:A Identity +NM_000368.5:c.1911del NP_000359.1:p.Asp638fs NC_000009.12:132905666:TT:T p.(Asp638MetfsTer15) NC_000009.12:132905666:TT:T p.(Asp638MetfsTer15) NC_000009.12:132905666:T: Analogous +NM_000368.5:c.591dup NP_000359.1:p.Asn198fs NC_000009.12:132921890:G:GG p.(Asn198GlnfsTer20) NC_000009.12:132921890:G:GG p.(Asn198GlnfsTer20) ERR:SPDI Analogous +NM_000388.4:c.920T>C NP_000379.3:p.Met307Thr NC_000003.12:122261954:T:C p.(Met307Thr) NC_000003.12:122261954:T:C p.(Met307Thr) NC_000003.12:122261954:T:C Identity +NM_001321299.2:c.436C>T NP_001308228.1:p.Arg146Trp NC_000017.11:42785449:C:T p.(Arg146Trp) NC_000017.11:42785449:C:T p.(Arg146Trp) NC_000017.11:42785449:C:T Identity +NM_000368.5:c.1249del NP_000359.1:p.Thr417fs NC_000009.12:132910584:T: p.(Thr417HisfsTer23) NC_000009.12:132910584:T: p.(Thr417HisfsTer23) NC_000009.12:132910584:T: Analogous +NM_000492.4:c.1418del NP_000483.3:p.Gly473fs NC_000007.14:117559486:GGG:GG p.(Gly473GlufsTer54) NC_000007.14:117559486:GGG:GG p.(Gly473GlufsTer54) NC_000007.14:117559488:G: Analogous +NM_000548.5:c.2370C>A NP_000539.2:p.Tyr790Ter NC_000016.10:2074213:C:A p.(Tyr790Ter) NC_000016.10:2074213:C:A p.(Tyr790Ter) NC_000016.10:2074213:C:A Identity +NM_000548.5:c.4401_4402insT NP_000539.2:p.Pro1468fs NC_000016.10:2084623::T p.(Pro1468SerfsTer56) NC_000016.10:2084622:C:T p.(Pro1468SerfsTer56) NC_000016.10:2084623:CC:T Analogous +NM_000059.4:c.5961G>T NP_000050.3:p.Gln1987His NC_000013.11:32340315:G:T p.(Gln1987His) NC_000013.11:32340315:G:T p.(Gln1987His) NC_000013.11:32340315:G:T Identity +NM_000027.4:c.755G>A NP_000018.2:p.Gly252Glu NC_000004.12:177434432:C:T p.(Gly252Glu) NC_000004.12:177434432:C:T p.(Gly252Glu) NC_000004.12:177434432:C:T Identity +NM_000548.5:c.1583_1584del NP_000539.2:p.Leu528fs NC_000016.10:2064410:TG: p.(Leu528ArgfsTer60) NC_000016.10:2064410:TG: p.(Leu528ArgfsTer60) NC_000016.10:2064410:TG: Analogous +NM_000548.5:c.3239del NP_000539.2:p.Leu1080fs NC_000016.10:2079381:TT:T p.(Leu1080TyrfsTer2) NC_000016.10:2079381:TT:T p.(Leu1080TyrfsTer2) NC_000016.10:2079382:T: Analogous +NM_000548.5:c.3168del NP_000539.2:p.Thr1057fs NC_000016.10:2079310:GG:G p.(Thr1057ProfsTer13) NC_000016.10:2079310:GG:G p.(Thr1057ProfsTer13) NC_000016.10:2079311:G: Analogous +NM_000548.5:c.3197T>C NP_000539.2:p.Leu1066Pro NC_000016.10:2079340:T:C p.(Leu1066Pro) NC_000016.10:2079340:T:C p.(Leu1066Pro) NC_000016.10:2079340:T:C Identity +NM_000492.4:c.1841A>G NP_000483.3:p.Asp614Gly NC_000007.14:117592007:A:G p.(Asp614Gly) NC_000007.14:117592007:A:G p.(Asp614Gly) NC_000007.14:117592007:A:G Identity +NM_000492.4:c.1976del NP_000483.3:p.Asn659fs NC_000007.14:117592140:AAA:AA p.(Asn659IlefsTer4) NC_000007.14:117592140:AAA:AA p.(Asn659IlefsTer4) NC_000007.14:117592142:A: Analogous +NM_000492.4:c.2290C>T NP_000483.3:p.Arg764Ter NC_000007.14:117592456:C:T p.(Arg764Ter) NC_000007.14:117592456:C:T p.(Arg764Ter) NC_000007.14:117592456:C:T Identity +NM_000492.4:c.3131A>G NP_000483.3:p.Glu1044Gly NC_000007.14:117610660:A:G p.(Glu1044Gly) NC_000007.14:117610660:A:G p.(Glu1044Gly) NC_000007.14:117610660:A:G Identity +NM_000492.4:c.3176T>G NP_000483.3:p.Leu1059Ter NC_000007.14:117611616:T:G p.(Leu1059Ter) NC_000007.14:117611616:T:G p.(Leu1059Ter) NC_000007.14:117611616:T:G Identity +NM_000243.3:c.314C>A NP_000234.1:p.Ala105Glu NC_000016.10:3254753:G:T p.(Ala105Glu) NC_000016.10:3254753:G:T p.(Ala105Glu) NC_000016.10:3254753:G:T Identity +NM_000086.2:c.586dup NP_000077.1:p.Ala196fs NC_000016.10:28486437:CCCCC:CCCCCC p.(Ala196GlyfsTer40) NC_000016.10:28486437:CCCCC:CCCCCC p.(Ala196GlyfsTer40) ERR:SPDI Analogous +NM_001126105.3:c.545dup NP_001119577.1:p.Val183fs NC_000014.9:22780005:A:AA p.(Val183GlyfsTer9) NC_000014.9:22780005:A:AA p.(Val183GlyfsTer9) ERR:SPDI Analogous +NM_000548.5:c.114dup NP_000539.2:p.Ile39fs NC_000016.10:2048726:TTT:TTTT p.(Ile39TyrfsTer28) NC_000016.10:2048726:TTT:TTTT p.(Ile39TyrfsTer28) ERR:SPDI Analogous +NM_000548.5:c.3373dup NP_000539.2:p.Arg1125fs NC_000016.10:2079642:CCC:CCCC p.(Arg1125ProfsTer43) NC_000016.10:2079642:CCC:CCCC p.(Arg1125ProfsTer43) ERR:SPDI Analogous +NM_000492.4:c.3209G>C NP_000483.3:p.Arg1070Pro NC_000007.14:117611649:G:C p.(Arg1070Pro) NC_000007.14:117611649:G:C p.(Arg1070Pro) NC_000007.14:117611649:G:C Identity +NM_000492.4:c.409_412del NP_000483.3:p.Leu137fs NC_000007.14:117531033:CTCC: p.(Leu137TyrfsTer15) NC_000007.14:117531033:CTCC: p.(Leu137TyrfsTer15) NC_000007.14:117531033:CTCC: Analogous +NM_000492.4:c.4276T>C NP_000483.3:p.Ser1426Pro NC_000007.14:117666940:T:C p.(Ser1426Pro) NC_000007.14:117666940:T:C p.(Ser1426Pro) NC_000007.14:117666940:T:C Identity +NM_000492.4:c.940G>C NP_000483.3:p.Gly314Arg NC_000007.14:117540169:G:C p.(Gly314Arg) NC_000007.14:117540169:G:C p.(Gly314Arg) NC_000007.14:117540169:G:C Identity +NM_001407571.1:c.868T>C NP_001394500.1:p.Ser290Pro NC_000017.11:43094449:A:G p.(Ser290Pro) NC_000017.11:43094449:A:G p.(Ser290Pro) NC_000017.11:43094449:A:G Identity +NM_004646.4:c.1275del NP_004637.1:p.Lys426fs NC_000019.10:35848292:GG:G p.(Lys426ArgfsTer10) NC_000019.10:35848292:GG:G p.(Lys426ArgfsTer10) NC_000019.10:35848292:G: Analogous +NM_004646.4:c.1292dup NP_004637.1:p.Ser432fs NC_000019.10:35848275:TT:TTT p.(Ser432ValfsTer16) NC_000019.10:35848275:TT:TTT p.(Ser432ValfsTer16) ERR:SPDI Analogous +NM_001407634.1:c.1843dup NP_001394563.1:p.Ser615fs NC_000017.11:43093684:AA:AAA p.(Ser615PhefsTer9) NC_000017.11:43093684:AA:AAA p.(Ser615PhefsTer9) ERR:SPDI Analogous +NM_018941.4:c.227A>G NP_061764.2:p.Gln76Arg NC_000008.11:1771280:A:G p.(Gln76Arg) NC_000008.11:1771280:A:G p.(Gln76Arg) NC_000008.11:1771280:A:G Identity +NM_173551.5:c.2054_2064del NP_775822.3:p.His685fs NC_000009.12:98768158:GCTTGACCGATG:G p.(His685ProfsTer12) NC_000009.12:98768158:GCTTGACCGATG:G p.(His685ProfsTer12) NC_000009.12:98768158:GCTTGACCGAT: Analogous +NM_000220.6:c.319A>G NP_000211.1:p.Lys107Glu NC_000011.10:128839981:T:C p.(Lys107Glu) NC_000011.10:128839981:T:C p.(Lys107Glu) NC_000011.10:128839981:T:C Identity +NM_020638.3:c.623A>G NP_065689.1:p.Gln208Arg NC_000012.12:4370475:T:C p.(Gln208Arg) NC_000012.12:4370475:T:C p.(Gln208Arg) NC_000012.12:4370475:T:C Identity +NM_000548.5:c.5230_5236del NP_000539.2:p.Leu1744fs NC_000016.10:2088295:CTCCGCC: p.(Leu1744ThrfsTer80) NC_000016.10:2088295:CTCCGCC: p.(Leu1744ThrfsTer80) NC_000016.10:2088295:CTCCGCC: Analogous +NM_000548.5:c.1804dup NP_000539.2:p.Tyr602fs NC_000016.10:2070542:T:TT p.(Tyr602LeufsTer15) NC_000016.10:2070542:T:TT p.(Tyr602LeufsTer15) ERR:SPDI Analogous +NM_000548.5:c.4298C>T NP_000539.2:p.Ser1433Leu NC_000016.10:2084519:C:T p.(Ser1433Leu) NC_000016.10:2084519:C:T p.(Ser1433Leu) NC_000016.10:2084519:C:T Identity +NM_000548.5:c.2950G>C NP_000539.2:p.Glu984Gln NC_000016.10:2077709:G:C p.(Glu984Gln) NC_000016.10:2077709:G:C p.(Glu984Gln) NC_000016.10:2077709:G:C Identity +NM_001407910.1:c.2307_2308del NP_001394839.1:p.His769fs NC_000017.11:43093012:TGTG:TG p.(His769GlnfsTer12) NC_000017.11:43093012:TGTG:TG p.(His769GlnfsTer12) NC_000017.11:43093012:TG: Analogous +LRG_292t1:c.3257T>A LRG_292p1:p.Leu1086Ter NC_000017.11:43092273:A:T ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407846.1:c.3820A>T NP_001394775.1:p.Lys1274Ter NC_000017.11:43091566:T:A p.(Lys1274Ter) NC_000017.11:43091566:T:A p.(Lys1274Ter) NC_000017.11:43091566:T:A Identity +NM_001407571.1:c.3968_3969dup NP_001394500.1:p.Gln1324Leufs NC_000017.11:43090945:GAG:GAGAG p.(Gln1324LeufsTer11) NC_000017.11:43090945:GAG:GAGAG p.(Gln1324LeufsTer11) ERR:SPDI Analogous +NM_001407571.1:c.3991C>T NP_001394500.1:p.His1331Tyr NC_000017.11:43082556:G:A p.(His1331Tyr) NC_000017.11:43082556:G:A p.(His1331Tyr) NC_000017.11:43082556:G:A Identity +NM_001407571.1:c.4048C>T NP_001394500.1:p.His1350Tyr NC_000017.11:43082499:G:A p.(His1350Tyr) NC_000017.11:43082499:G:A p.(His1350Tyr) NC_000017.11:43082499:G:A Identity +NM_001408491.1:c.275delG NP_001395420.1:p.Arg92Lysfs NC_000017.11:43099833:C: p.(Arg92LysfsTer3) NC_000017.11:43099833:C: p.(Arg92LysfsTer3) NC_000017.11:43099833:C: Analogous +NM_001407571.1:c.4728delC NP_001394500.1:p.Asn1576Lysfs NC_000017.11:43070972:G: p.(Asn1576LysfsTer11) NC_000017.11:43070972:G: p.(Asn1576LysfsTer11) NC_000017.11:43070972:G: Analogous +NM_001407738.1:c.5179_5180delAT NP_001394667.1:p.Met1727Alafs NC_000017.11:43051070:AT: p.(Met1727AlafsTer54) NC_000017.11:43051070:AT: p.(Met1727AlafsTer54) NC_000017.11:43051070:AT: Analogous +NM_001407571.1:c.5113dup NP_001394500.1:p.Thr1706Hisfs NC_000017.11:43051066:GGG:GGGG p.(Thr1706HisfsTer53) NC_000017.11:43051066:GGG:GGGG p.(Thr1706HisfsTer53) ERR:SPDI Analogous +NM_001407571.1:c.359T>A NP_001394500.1:p.Val120Asp NC_000017.11:43097264:A:T p.(Val120Asp) NC_000017.11:43097264:A:T p.(Val120Asp) NC_000017.11:43097264:A:T Identity +NM_001407918.1:c.503A>G NP_001394847.1:p.His168Arg NC_000017.11:43094814:T:C p.(His168Arg) NC_000017.11:43094814:T:C p.(His168Arg) NC_000017.11:43094814:T:C Identity +NM_001407751.1:c.653_654del NP_001394680.1:p.Ser218fs NC_000017.11:43094735:AGA:A p.(Ser218CysfsTer21) NC_000017.11:43094735:AGA:A p.(Ser218CysfsTer21) NC_000017.11:43094735:AG: Analogous +NM_001407942.1:c.658dup NP_001394871.1:p.Ser220fs NC_000017.11:43094731:AAA:AAAA p.(Ser220PhefsTer20) NC_000017.11:43094731:AAA:AAAA p.(Ser220PhefsTer20) ERR:SPDI Analogous +NM_000274.4:c.425G>A NP_000265.1:p.Gly142Glu NC_000010.11:124408636:C:T p.(Gly142Glu) NC_000010.11:124408636:C:T p.(Gly142Glu) NC_000010.11:124408636:C:T Identity +NM_000310.4:c.117T>A NP_000301.1:p.His39Gln NC_000001.11:40097121:A:T p.(His39Gln) NC_000001.11:40097121:A:T p.(His39Gln) NC_000001.11:40097121:A:T Identity +NM_000310.4:c.674T>C NP_000301.1:p.Phe225Ser NC_000001.11:40078611:A:G p.(Phe225Ser) NC_000001.11:40078611:A:G p.(Phe225Ser) NC_000001.11:40078611:A:G Identity +NM_001081.4:c.2486C>T NP_001072.2:p.Ser829Leu NC_000010.11:17071564:G:A p.(Ser829Leu) NC_000010.11:17071564:G:A p.(Ser829Leu) NC_000010.11:17071564:G:A Identity +NM_001126105.3:c.713C>T NP_001119577.1:p.Ser238Phe NC_000014.9:22778849:G:A p.(Ser238Phe) NC_000014.9:22778849:G:A p.(Ser238Phe) NC_000014.9:22778849:G:A Identity +NM_004646.4:c.518T>A NP_004637.1:p.Ile173Asn NC_000019.10:35850968:A:T p.(Ile173Asn) NC_000019.10:35850968:A:T p.(Ile173Asn) NC_000019.10:35850968:A:T Identity +NM_015243.3:c.404dup NP_056058.2:p.Leu135fs NC_000008.11:99096422:TT:TTT p.(Leu135PhefsTer11) NC_000008.11:99096422:TT:TTT p.(Leu135PhefsTer11) ERR:SPDI Analogous +NM_001163812.2:c.1387C>T NP_001157284.1:p.Arg463Trp NC_000010.11:100989786:C:T p.(Arg463Trp) NC_000010.11:100989786:C:T p.(Arg463Trp) NC_000010.11:100989786:C:T Identity +NM_018646.6:c.1558A>C NP_061116.5:p.Ile520Leu NC_000007.14:142874504:T:G p.(Ile520Leu) NC_000007.14:142874504:T:G p.(Ile520Leu) NC_000007.14:142874504:T:G Identity +NM_018646.6:c.1904C>A NP_061116.5:p.Ala635Asp NC_000007.14:142873451:G:T p.(Ala635Asp) NC_000007.14:142873451:G:T p.(Ala635Asp) NC_000007.14:142873451:G:T Identity +NM_000368.5:c.648del NP_000359.1:p.Phe216fs NC_000009.12:132921833:AAAA:AAA p.(Phe216LeufsTer8) NC_000009.12:132921833:AAAA:AAA p.(Phe216LeufsTer8) NC_000009.12:132921833:A: Analogous +NM_000548.5:c.4752del NP_000539.2:p.Lys1585fs NC_000016.10:2086281:G: p.(Lys1585ArgfsTer40) NC_000016.10:2086281:G: p.(Lys1585ArgfsTer40) NC_000016.10:2086281:G: Analogous +NM_000548.5:c.3364C>T NP_000539.2:p.Arg1122Cys NC_000016.10:2079635:C:T p.(Arg1122Cys) NC_000016.10:2079635:C:T p.(Arg1122Cys) NC_000016.10:2079635:C:T Identity +NM_001370404.1:c.4433A>G NP_001357333.1:p.Asn1478Ser NC_000016.10:2085021:A:G p.(Asn1478Ser) NC_000016.10:2085021:A:G p.(Asn1478Ser) NC_000016.10:2085021:A:G Identity +NM_000548.5:c.1819G>T NP_000539.2:p.Ala607Ser NC_000016.10:2070557:G:T p.(Ala607Ser) NC_000016.10:2070557:G:T p.(Ala607Ser) NC_000016.10:2070557:G:T Identity +NM_001382.4:c.503T>C NP_001373.2:p.Leu168Pro NC_000011.10:119100401:A:G p.(Leu168Pro) NC_000011.10:119100401:A:G p.(Leu168Pro) NC_000011.10:119100401:A:G Identity +NM_000375.3:c.139T>C NP_000366.1:p.Ser47Pro NC_000010.11:125816184:A:G p.(Ser47Pro) NC_000010.11:125816184:A:G p.(Ser47Pro) NC_000010.11:125816184:A:G Identity +NM_001142763.2:c.409dup NP_001136235.1:p.Glu137fs NC_000010.11:54369199:C:CC p.(Glu137GlyfsTer11) NC_000010.11:54369199:C:CC p.(Glu137GlyfsTer11) ERR:SPDI Analogous +NM_000193.4:c.664G>A NP_000184.1:p.Asp222Asn NC_000007.14:155803624:C:T p.(Asp222Asn) NC_000007.14:155803624:C:T p.(Asp222Asn) NC_000007.14:155803624:C:T Identity +NM_000224.3:c.448A>G NP_000215.1:p.Ile150Val NC_000012.12:52950357:A:G p.(Ile150Val) NC_000012.12:52950357:A:G p.(Ile150Val) NC_000012.12:52950357:A:G Identity +NM_000540.3:c.212C>A NP_000531.2:p.Ser71Tyr NC_000019.10:38442394:C:A p.(Ser71Tyr) NC_000019.10:38442394:C:A p.(Ser71Tyr) NC_000019.10:38442394:C:A Identity +NM_001059.3:c.824G>A NP_001050.1:p.Trp275Ter NC_000004.12:103656257:C:T p.(Trp275Ter) NC_000004.12:103656257:C:T p.(Trp275Ter) NC_000004.12:103656257:C:T Identity +NM_000424.4:c.968T>C NP_000415.2:p.Val323Ala NC_000012.12:52517713:A:G p.(Val323Ala) NC_000012.12:52517713:A:G p.(Val323Ala) NC_000012.12:52517713:A:G Identity +NM_000526.5:c.1162C>G NP_000517.3:p.Arg388Gly NC_000017.11:41583346:G:C p.(Arg388Gly) NC_000017.11:41583346:G:C p.(Arg388Gly) NC_000017.11:41583346:G:C Identity +NM_000424.4:c.591C>A NP_000415.2:p.Asp197Glu NC_000012.12:52519124:G:T p.(Asp197Glu) NC_000012.12:52519124:G:T p.(Asp197Glu) NC_000012.12:52519124:G:T Identity +NM_000526.5:c.749del NP_000517.3:p.Lys250fs NC_000017.11:41584272:TT:T p.(Lys250ArgfsTer8) NC_000017.11:41584272:TT:T p.(Lys250ArgfsTer8) NC_000017.11:41584272:T: Analogous +NM_001131019.3:c.140C>T NP_001124491.1:p.Pro47Leu NC_000017.11:44915346:G:A p.(Pro47Leu) NC_000017.11:44915346:G:A p.(Pro47Leu) NC_000017.11:44915346:G:A Identity +NM_021076.4:c.2234A>T NP_066554.2:p.Lys745Met NC_000022.11:29489873:A:T p.(Lys745Met) NC_000022.11:29489873:A:T p.(Lys745Met) NC_000022.11:29489873:A:T Identity +NM_001330609.2:c.1643G>C NP_001317538.1:p.Gly548Ala NC_000008.11:125055600:C:G p.(Gly548Ala) NC_000008.11:125055600:C:G p.(Gly548Ala) NC_000008.11:125055600:C:G Identity +NM_001287489.2:c.3413T>C NP_001274418.1:p.Leu1138Pro NC_000002.12:26473562:A:G p.(Leu1138Pro) NC_000002.12:26473562:A:G p.(Leu1138Pro) NC_000002.12:26473562:A:G Identity +NM_000193.4:c.562G>C NP_000184.1:p.Glu188Gln NC_000007.14:155806295:C:G p.(Glu188Gln) NC_000007.14:155806295:C:G p.(Glu188Gln) NC_000007.14:155806295:C:G Identity +NM_005554.4:c.1416G>C NP_005545.1:p.Glu472Asp NC_000012.12:52488335:C:G p.(Glu472Asp) NC_000012.12:52488335:C:G p.(Glu472Asp) NC_000012.12:52488335:C:G Identity +LRG_287t1:c.1016T>A LRG_287p1:p.Phe339Tyr NC_000011.10:2583528:T:A ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_287t1:c.1093A>C LRG_287p1:p.Asn365His NC_000011.10:2585271:A:C ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_287t1:c.845T>C LRG_287p1:p.Leu282Pro NC_000011.10:2572909:T:C ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_287t1:c.950A>G LRG_287p1:p.Asp317Gly NC_000011.10:2583462:A:G ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_288t1:c.1468G>C LRG_288p1:p.Ala490Pro NC_000007.14:150952513:C:G ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.1847A>G LRG_288p1:p.Tyr616Cys NC_000007.14:150951545:T:C ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +NM_001287489.2:c.5800dup NP_001274418.1:p.Leu1934fs NC_000002.12:26460659:GGGGG:GGGGGG p.(Leu1934ProfsTer185) NC_000002.12:26460659:GGGGG:GGGGGG p.(Leu1934ProfsTer185) ERR:SPDI Analogous +NM_000540.3:c.10817T>C NP_000531.2:p.Leu3606Pro NC_000019.10:38527776:T:C p.(Leu3606Pro) NC_000019.10:38527776:T:C p.(Leu3606Pro) NC_000019.10:38527776:T:C Identity +NM_001251987.2:c.176C>G NP_001238916.1:p.Thr59Arg NC_000006.12:123570978:G:C p.(Thr59Arg) NC_000006.12:123570978:G:C p.(Thr59Arg) NC_000006.12:123570978:G:C Identity +NM_000423.3:c.1462G>A NP_000414.2:p.Glu488Lys NC_000012.12:52646746:C:T p.(Glu488Lys) NC_000012.12:52646746:C:T p.(Glu488Lys) NC_000012.12:52646746:C:T Identity +NM_000424.4:c.10C>T NP_000415.2:p.Gln4Ter NC_000012.12:52520286:G:A p.(Gln4Ter) NC_000012.12:52520286:G:A p.(Gln4Ter) NC_000012.12:52520286:G:A Identity +LRG_287t1:c.1556G>A LRG_287p1:p.Arg519His NC_000011.10:2768884:G:A ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +NM_000424.4:c.237T>A NP_000415.2:p.Ser79Arg NC_000012.12:52520059:A:T p.(Ser79Arg) NC_000012.12:52520059:A:T p.(Ser79Arg) NC_000012.12:52520059:A:T Identity +NM_000238.4:c.751C>G NP_000229.1:p.Pro251Ala NC_000007.14:150958223:G:C p.(Pro251Ala) NC_000007.14:150958223:G:C p.(Pro251Ala) NC_000007.14:150958223:G:C Identity +LRG_289t1:c.1217A>G LRG_289p1:p.Asn406Ser NC_000003.12:38606071:T:C ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_289t1 not found +LRG_287t1:c.929T>A LRG_287p1:p.Val310Asp NC_000011.10:2583441:T:A ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_288t1:c.173A>G LRG_288p1:p.Glu58Gly NC_000007.14:150974844:T:C ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.1826A>G LRG_288p1:p.Asp609Gly NC_000007.14:150951566:T:C ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.1877G>C LRG_288p1:p.Gly626Ala NC_000007.14:150951515:C:G ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +NM_001131019.3:c.211G>A NP_001124491.1:p.Ala71Thr NC_000017.11:44915275:C:T p.(Ala71Thr) NC_000017.11:44915275:C:T p.(Ala71Thr) NC_000017.11:44915275:C:T Identity +NM_021076.4:c.1387G>A NP_066554.2:p.Glu463Lys NC_000022.11:29489026:G:A p.(Glu463Lys) NC_000022.11:29489026:G:A p.(Glu463Lys) NC_000022.11:29489026:G:A Identity +LRG_288t1:c.158G>A LRG_288p1:p.Gly53Asp NC_000007.14:150974859:C:T ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.2299G>T LRG_288p1:p.Asp767Tyr NC_000007.14:150950266:C:A ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_289t1:c.2780A>G LRG_289p1:p.Asn927Ser NC_000003.12:38585697:T:C ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_289t1 not found +LRG_289t1:c.3618G>T LRG_289p1:p.Trp1206Cys NC_000003.12:38575344:C:A ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:Data provider error: ValueError: Transcript LRG_289t1 not found ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_289t1, alt_ac=LRG_289t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_289t1 not found +LRG_288t1:c.830C>A LRG_288p1:p.Ala277Asp NC_000007.14:150958144:G:T ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.1933A>G LRG_288p1:p.Met645Val NC_000007.14:150951459:T:C ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.2059C>T LRG_288p1:p.His687Tyr NC_000007.14:150951006:G:A ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +NM_000238.4:c.2509G>T NP_000229.1:p.Asp837Tyr NC_000007.14:150948938:C:A p.(Asp837Tyr) NC_000007.14:150948938:C:A p.(Asp837Tyr) NC_000007.14:150948938:C:A Identity +NM_000238.4:c.3133C>T NP_000229.1:p.Leu1045Phe NC_000007.14:150947346:G:A p.(Leu1045Phe) NC_000007.14:150947346:G:A p.(Leu1045Phe) NC_000007.14:150947346:G:A Identity +NM_000335.5:c.3748G>A NP_000326.2:p.Val1250Met NC_000003.12:38566497:C:T p.(Val1250Met) NC_000003.12:38566497:C:T p.(Val1250Met) NC_000003.12:38566497:C:T Identity +NM_000335.5:c.715A>G NP_000326.2:p.Ile239Val NC_000003.12:38609952:T:C p.(Ile239Val) NC_000003.12:38609952:T:C p.(Ile239Val) NC_000003.12:38609952:T:C Identity +NM_000335.5:c.880G>A NP_000326.2:p.Val294Met NC_000003.12:38609787:C:T p.(Val294Met) NC_000003.12:38609787:C:T p.(Val294Met) NC_000003.12:38609787:C:T Identity +NM_000397.4:c.58G>C NP_000388.2:p.Gly20Arg NC_000023.11:37782099:G:C p.(Gly20Arg) NC_000023.11:37782099:G:C p.(Gly20Arg) NC_000023.11:37782099:G:C Identity +NM_000068.4:c.6418C>T NP_000059.3:p.Arg2140Cys NC_000019.10:13209437:G:A p.(Arg2140Cys) NC_000019.10:13209437:G:A p.(Arg2140Cys) NC_000019.10:13209437:G:A Identity +NM_000433.4:c.233G>A NP_000424.2:p.Gly78Glu NC_000001.11:183586918:C:T p.(Gly78Glu) NC_000001.11:183586918:C:T p.(Gly78Glu) NC_000001.11:183586918:C:T Identity +NM_001165963.4:c.838T>C NP_001159435.1:p.Trp280Arg NC_000002.12:166051844:A:G p.(Trp280Arg) NC_000002.12:166051844:A:G p.(Trp280Arg) NC_000002.12:166051844:A:G Identity +NM_001165963.4:c.3629C>A NP_001159435.1:p.Thr1210Lys NC_000002.12:166013819:G:T p.(Thr1210Lys) NC_000002.12:166013819:G:T p.(Thr1210Lys) NC_000002.12:166013819:G:T Identity +NM_001165963.4:c.3789C>G NP_001159435.1:p.Phe1263Leu NC_000002.12:166012198:G:C p.(Phe1263Leu) NC_000002.12:166012198:G:C p.(Phe1263Leu) NC_000002.12:166012198:G:C Identity +NM_000207.3:c.302C>G NP_000198.1:p.Ser101Cys NC_000011.10:2159882:G:C p.(Ser101Cys) NC_000011.10:2159882:G:C p.(Ser101Cys) NC_000011.10:2159882:G:C Identity +NM_000207.3:c.85C>G NP_000198.1:p.His29Asp NC_000011.10:2160886:G:C p.(His29Asp) NC_000011.10:2160886:G:C p.(His29Asp) NC_000011.10:2160886:G:C Identity +NM_001164507.2:c.772G>A NP_001157979.2:p.Asp258Asn NC_000002.12:151717465:C:T p.(Asp258Asn) NC_000002.12:151717465:C:T p.(Asp258Asn) NC_000002.12:151717465:C:T Identity +NM_001127897.4:c.2230C>T NP_001121369.1:p.Arg744Ter NC_000016.10:53649037:G:A p.(Arg744Ter) NC_000016.10:53649037:G:A p.(Arg744Ter) NC_000016.10:53649037:G:A Identity +NM_000833.5:c.1532C>T NP_000824.1:p.Ser511Leu NC_000016.10:9840765:G:A p.(Ser511Leu) NC_000016.10:9840765:G:A p.(Ser511Leu) NC_000016.10:9840765:G:A Identity +NM_000546.6:c.1093C>T NP_000537.3:p.His365Tyr NC_000017.11:7670615:G:A p.(His365Tyr) NC_000017.11:7670615:G:A p.(His365Tyr) NC_000017.11:7670615:G:A Identity +NM_000038.6:c.7513C>G NP_000029.2:p.Arg2505Gly NC_000005.10:112843106:C:G p.(Arg2505Gly) NC_000005.10:112843106:C:G p.(Arg2505Gly) NC_000005.10:112843106:C:G Identity +NM_001942.4:c.1079dup NP_001933.2:p.Ile361fs NC_000018.10:31336426:C:CC p.(Ile361AsnfsTer6) NC_000018.10:31336426:C:CC p.(Ile361AsnfsTer6) ERR:SPDI Analogous +NM_000335.5:c.4210G>C NP_000326.2:p.Val1404Leu NC_000003.12:38560178:C:G p.(Val1404Leu) NC_000003.12:38560178:C:G p.(Val1404Leu) NC_000003.12:38560178:C:G Identity +NM_000179.3:c.2080T>C NP_000170.1:p.Cys694Arg NC_000002.12:47800062:T:C p.(Cys694Arg) NC_000002.12:47800062:T:C p.(Cys694Arg) NC_000002.12:47800062:T:C Identity +NM_000179.3:c.3218C>G NP_000170.1:p.Pro1073Arg NC_000002.12:47803464:C:G p.(Pro1073Arg) NC_000002.12:47803464:C:G p.(Pro1073Arg) NC_000002.12:47803464:C:G Identity +NM_000179.3:c.3324dup NP_000170.1:p.Ile1109fs NC_000002.12:47803567:TTTT:TTTTT p.(Ile1109TyrfsTer3) NC_000002.12:47803567:TTTT:TTTTT p.(Ile1109TyrfsTer3) ERR:SPDI Analogous +NM_000335.5:c.6014C>G NP_000326.2:p.Pro2005Arg NC_000003.12:38550354:G:C p.(Pro2005Arg) NC_000003.12:38550354:G:C p.(Pro2005Arg) NC_000003.12:38550354:G:C Identity +NM_000335.5:c.825C>A NP_000326.2:p.Asn275Lys NC_000003.12:38609842:G:T p.(Asn275Lys) NC_000003.12:38609842:G:T p.(Asn275Lys) NC_000003.12:38609842:G:T Identity +NM_000383.4:c.62C>T NP_000374.1:p.Ala21Val NC_000021.9:44286067:C:T p.(Ala21Val) NC_000021.9:44286067:C:T p.(Ala21Val) NC_000021.9:44286067:C:T Identity +NM_000397.4:c.1223G>A NP_000388.2:p.Gly408Glu NC_000023.11:37805076:G:A p.(Gly408Glu) NC_000023.11:37805076:G:A p.(Gly408Glu) NC_000023.11:37805076:G:A Identity +NM_000397.4:c.1259T>C NP_000388.2:p.Leu420Pro NC_000023.11:37805112:T:C p.(Leu420Pro) NC_000023.11:37805112:T:C p.(Leu420Pro) NC_000023.11:37805112:T:C Identity +NM_000179.3:c.383G>T NP_000170.1:p.Arg128Leu NC_000002.12:47791048:G:T p.(Arg128Leu) NC_000002.12:47791048:G:T p.(Arg128Leu) NC_000002.12:47791048:G:T Identity +NM_000179.3:c.854G>T NP_000170.1:p.Ser285Ile NC_000002.12:47798836:G:T p.(Ser285Ile) NC_000002.12:47798836:G:T p.(Ser285Ile) NC_000002.12:47798836:G:T Identity +NM_000249.4:c.232del NP_000240.1:p.Glu78fs NC_000003.12:37000978:G: p.(Glu78LysfsTer14) NC_000003.12:37000978:G: p.(Glu78LysfsTer14) NC_000003.12:37000978:G: Analogous +NM_000249.4:c.244A>G NP_000240.1:p.Thr82Ala NC_000003.12:37000990:A:G p.(Thr82Ala) NC_000003.12:37000990:A:G p.(Thr82Ala) NC_000003.12:37000990:A:G Identity +NM_000249.4:c.693del NP_000240.1:p.Ile231fs NC_000003.12:37014445:TT:T p.(Ile231MetfsTer8) NC_000003.12:37014445:TT:T p.(Ile231MetfsTer8) NC_000003.12:37014446:T: Analogous +NM_000249.4:c.731_734del NP_000240.1:p.Gly244fs NC_000003.12:37014484:GTTA: p.(Gly244AlafsTer9) NC_000003.12:37014484:GTTA: p.(Gly244AlafsTer9) NC_000003.12:37014484:GTTA: Analogous +NM_000251.3:c.146A>T NP_000242.1:p.Asp49Val NC_000002.12:47403336:A:T p.(Asp49Val) NC_000002.12:47403336:A:T p.(Asp49Val) NC_000002.12:47403336:A:T Identity +NM_000251.3:c.2533A>G NP_000242.1:p.Lys845Glu NC_000002.12:47480769:A:G p.(Lys845Glu) NC_000002.12:47480769:A:G p.(Lys845Glu) NC_000002.12:47480769:A:G Identity +NM_000424.4:c.556G>A NP_000415.2:p.Val186Met NC_000012.12:52519159:C:T p.(Val186Met) NC_000012.12:52519159:C:T p.(Val186Met) NC_000012.12:52519159:C:T Identity +NM_006121.4:c.641T>C NP_006112.3:p.Leu214Pro NC_000012.12:52678706:A:G p.(Leu214Pro) NC_000012.12:52678706:A:G p.(Leu214Pro) NC_000012.12:52678706:A:G Identity +NM_001257374.3:c.1105T>C NP_001244303.1:p.Tyr369His NC_000001.11:156136980:T:C p.(Tyr369His) NC_000001.11:156136980:T:C p.(Tyr369His) NC_000001.11:156136980:T:C Identity +NM_000335.5:c.4G>A NP_000326.2:p.Ala2Thr NC_000003.12:38633303:C:T p.(Ala2Thr) NC_000003.12:38633303:C:T p.(Ala2Thr) NC_000003.12:38633303:C:T Identity +NM_000335.5:c.5326G>A NP_000326.2:p.Val1776Met NC_000003.12:38551042:C:T p.(Val1776Met) NC_000003.12:38551042:C:T p.(Val1776Met) NC_000003.12:38551042:C:T Identity +LRG_287t1:c.941G>C LRG_287p1:p.Gly314Ala NC_000011.10:2583453:G:C ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:Data provider error: ValueError: Transcript LRG_287t1 not found ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_287t1, alt_ac=LRG_287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_287t1 not found +LRG_288t1:c.2354G>C LRG_288p1:p.Gly785Ala NC_000007.14:150950211:C:G ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +LRG_288t1:c.442C>T LRG_288p1:p.Arg148Trp NC_000007.14:150959601:G:A ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +NM_000335.5:c.1588T>G NP_000326.2:p.Phe530Val NC_000003.12:38604013:A:C p.(Phe530Val) NC_000003.12:38604013:A:C p.(Phe530Val) NC_000003.12:38604013:A:C Identity +NM_000068.4:c.757C>T NP_000059.3:p.His253Tyr NC_000019.10:13365343:G:A p.(His253Tyr) NC_000019.10:13365343:G:A p.(His253Tyr) NC_000019.10:13365343:G:A Identity +NM_001165963.4:c.2917A>G NP_001159435.1:p.Met973Val NC_000002.12:166037804:T:C p.(Met973Val) NC_000002.12:166037804:T:C p.(Met973Val) NC_000002.12:166037804:T:C Identity +NM_001165963.4:c.2585G>A NP_001159435.1:p.Arg862Gln NC_000002.12:166039426:C:T p.(Arg862Gln) NC_000002.12:166039426:C:T p.(Arg862Gln) NC_000002.12:166039426:C:T Identity +NM_001165963.4:c.269T>C NP_001159435.1:p.Phe90Ser NC_000002.12:166058683:A:G p.(Phe90Ser) NC_000002.12:166058683:A:G p.(Phe90Ser) NC_000002.12:166058683:A:G Identity +NM_000207.3:c.104T>C NP_000198.1:p.Leu35Pro NC_000011.10:2160867:A:G p.(Leu35Pro) NC_000011.10:2160867:A:G p.(Leu35Pro) NC_000011.10:2160867:A:G Identity +NM_139025.5:c.911A>G NP_620594.1:p.Tyr304Cys NC_000009.12:133430024:A:G p.(Tyr304Cys) NC_000009.12:133430024:A:G p.(Tyr304Cys) NC_000009.12:133430024:A:G Identity +NM_017553.3:c.2998C>T NP_060023.1:p.Arg1000Cys NC_000015.10:41027645:G:A p.(Arg1000Cys) NC_000015.10:41027645:G:A p.(Arg1000Cys) NC_000015.10:41027645:G:A Identity +NM_001142466.3:c.872C>T NP_001135938.1:p.Pro291Leu NC_000016.10:46922375:C:T p.(Pro291Leu) NC_000016.10:46922375:C:T p.(Pro291Leu) NC_000016.10:46922375:C:T Identity +NM_001165960.1:c.1027C>T NP_001159432.1:p.Arg343Ter NC_000017.11:8114532:G:A p.(Arg343Ter) NC_000017.11:8114532:G:A p.(Arg343Ter) NC_000017.11:8114532:G:A Identity +NM_000251.3:c.73_74insC NP_000242.1:p.Gly25fs NC_000002.12:47403264::C p.(Gly25AlafsTer57) NC_000002.12:47403263:G:C p.(Gly25AlafsTer57) NC_000002.12:47403264:GG:C Analogous +NM_000251.3:c.767_768dup NP_000242.1:p.Val257fs NC_000002.12:47412534:CT:CTCT p.(Val257LeufsTer18) NC_000002.12:47412534:CT:CTCT p.(Val257LeufsTer18) ERR:SPDI Analogous +NM_000487.6:c.94G>C NP_000478.3:p.Asp32His NC_000022.11:50627685:C:G p.(Asp32His) NC_000022.11:50627685:C:G p.(Asp32His) NC_000022.11:50627685:C:G Identity +NM_001164277.2:c.526T>C NP_001157749.1:p.Cys176Arg NC_000011.10:119027727:A:G p.(Cys176Arg) NC_000011.10:119027727:A:G p.(Cys176Arg) NC_000011.10:119027727:A:G Identity +NM_000335.5:c.4046T>C NP_000326.2:p.Ile1349Thr NC_000003.12:38560342:A:G p.(Ile1349Thr) NC_000003.12:38560342:A:G p.(Ile1349Thr) NC_000003.12:38560342:A:G Identity +NM_000335.5:c.4654A>C NP_000326.2:p.Ser1552Arg NC_000003.12:38554434:T:G p.(Ser1552Arg) NC_000003.12:38554434:T:G p.(Ser1552Arg) NC_000003.12:38554434:T:G Identity +NM_001018837.2:c.245T>G NP_001018238.1:p.Leu82Arg NC_000001.11:154273845:T:G p.(Leu82Arg) NC_000001.11:154273845:T:G p.(Leu82Arg) NC_000001.11:154273845:T:G Identity +NM_000059.4:c.595G>A NP_000050.3:p.Ala199Thr NC_000013.11:32326576:G:A p.(Ala199Thr) NC_000013.11:32326576:G:A p.(Ala199Thr) NC_000013.11:32326576:G:A Identity +NM_001407571.1:c.3684G>T NP_001394500.1:p.Gln1228His NC_000017.11:43091633:C:A p.(Gln1228His) NC_000017.11:43091633:C:A p.(Gln1228His) NC_000017.11:43091633:C:A Identity +NM_000036.3:c.1350C>G NP_000027.3:p.Cys450Trp NC_000001.11:114677388:G:C p.(Cys450Trp) NC_000001.11:114677388:G:C p.(Cys450Trp) NC_000001.11:114677388:G:C Identity +NM_001165963.4:c.1149C>G NP_001159435.1:p.Phe383Leu NC_000002.12:166047647:G:C p.(Phe383Leu) NC_000002.12:166047647:G:C p.(Phe383Leu) NC_000002.12:166047647:G:C Identity +NM_001165963.4:c.4822G>T NP_001159435.1:p.Asp1608Tyr NC_000002.12:165994175:C:A p.(Asp1608Tyr) NC_000002.12:165994175:C:A p.(Asp1608Tyr) NC_000002.12:165994175:C:A Identity +NM_001139441.1:c.97C>T NP_001132913.1:p.Gln33Ter NC_000023.11:153720967:G:A p.(Gln33Ter) NC_000023.11:153720967:G:A p.(Gln33Ter) NC_000023.11:153720967:G:A Identity +NM_005689.4:c.575G>A NP_005680.1:p.Arg192Gln NC_000002.12:219217781:C:T p.(Arg192Gln) NC_000002.12:219217781:C:T p.(Arg192Gln) NC_000002.12:219217781:C:T Identity +NM_000143.4:c.1446_1449del NP_000134.2:p.Glu484fs NC_000001.11:241497911:CTTT: p.(Glu484LeufsTer17) NC_000001.11:241497911:CTTT: p.(Glu484LeufsTer17) NC_000001.11:241497911:CTTT: Analogous +NM_000391.4:c.1361C>A NP_000382.3:p.Ala454Glu NC_000011.10:6615234:G:T p.(Ala454Glu) NC_000011.10:6615234:G:T p.(Ala454Glu) NC_000011.10:6615234:G:T Identity +NM_139025.5:c.3367C>T NP_620594.1:p.Arg1123Cys NC_000009.12:133455401:C:T p.(Arg1123Cys) NC_000009.12:133455401:C:T p.(Arg1123Cys) NC_000009.12:133455401:C:T Identity +NM_001171.6:c.2393C>T NP_001162.5:p.Pro798Leu NC_000016.10:16178819:G:A p.(Pro798Leu) NC_000016.10:16178819:G:A p.(Pro798Leu) NC_000016.10:16178819:G:A Identity +NM_001365951.3:c.3140C>T NP_001352880.1:p.Ser1047Leu NC_000001.11:10337083:C:T p.(Ser1047Leu) NC_000001.11:10337083:C:T p.(Ser1047Leu) NC_000001.11:10337083:C:T Identity +NM_000965.5:c.1159C>A NP_000956.2:p.Arg387Ser NC_000003.12:25596427:C:A p.(Arg387Ser) NC_000003.12:25596427:C:A p.(Arg387Ser) NC_000003.12:25596427:C:A Identity +NM_052814.4:c.865C>T NP_434701.1:p.Gln289Ter NC_000009.12:136370379:G:A p.(Gln289Ter) NC_000009.12:136370379:G:A p.(Gln289Ter) NC_000009.12:136370379:G:A Identity +NM_000059.4:c.9286G>A NP_000050.3:p.Glu3096Lys NC_000013.11:32394717:G:A p.(Glu3096Lys) NC_000013.11:32394717:G:A p.(Glu3096Lys) NC_000013.11:32394717:G:A Identity +NM_000179.3:c.1338A>T NP_000170.1:p.Glu446Asp NC_000002.12:47799320:A:T p.(Glu446Asp) NC_000002.12:47799320:A:T p.(Glu446Asp) NC_000002.12:47799320:A:T Identity +NM_000426.4:c.3976C>T NP_000417.3:p.Arg1326Ter NC_000006.12:129316088:C:T p.(Arg1326Ter) NC_000006.12:129316088:C:T p.(Arg1326Ter) NC_000006.12:129316088:C:T Identity +NM_000249.4:c.1744C>G NP_000240.1:p.Leu582Val NC_000003.12:37047530:C:G p.(Leu582Val) NC_000003.12:37047530:C:G p.(Leu582Val) NC_000003.12:37047530:C:G Identity +NM_000249.4:c.256C>T NP_000240.1:p.Gln86Ter NC_000003.12:37001002:C:T p.(Gln86Ter) NC_000003.12:37001002:C:T p.(Gln86Ter) NC_000003.12:37001002:C:T Identity +NM_000179.3:c.2408A>G NP_000170.1:p.Asp803Gly NC_000002.12:47800390:A:G p.(Asp803Gly) NC_000002.12:47800390:A:G p.(Asp803Gly) NC_000002.12:47800390:A:G Identity +NM_000179.3:c.3484G>C NP_000170.1:p.Ala1162Pro NC_000002.12:47804954:G:C p.(Ala1162Pro) NC_000002.12:47804954:G:C p.(Ala1162Pro) NC_000002.12:47804954:G:C Identity +NM_000179.3:c.4001G>A NP_000170.1:p.Arg1334Gln NC_000002.12:47806650:G:A p.(Arg1334Gln) NC_000002.12:47806650:G:A p.(Arg1334Gln) NC_000002.12:47806650:G:A Identity +NM_000251.3:c.1154C>T NP_000242.1:p.Pro385Leu NC_000002.12:47429818:C:T p.(Pro385Leu) NC_000002.12:47429818:C:T p.(Pro385Leu) NC_000002.12:47429818:C:T Identity +NM_000251.3:c.1788_1789del NP_000242.1:p.Asn596fs NC_000002.12:47475052:TG: p.(Asn596LysfsTer47) NC_000002.12:47475052:TG: p.(Asn596LysfsTer47) NC_000002.12:47475052:TG: Analogous +NM_000251.3:c.1864C>A NP_000242.1:p.Pro622Thr NC_000002.12:47475128:C:A p.(Pro622Thr) NC_000002.12:47475128:C:A p.(Pro622Thr) NC_000002.12:47475128:C:A Identity +NM_000251.3:c.2308A>G NP_000242.1:p.Ile770Val NC_000002.12:47478368:A:G p.(Ile770Val) NC_000002.12:47478368:A:G p.(Ile770Val) NC_000002.12:47478368:A:G Identity +NM_000249.4:c.125C>T NP_000240.1:p.Ala42Val NC_000003.12:36996626:C:T p.(Ala42Val) NC_000003.12:36996626:C:T p.(Ala42Val) NC_000003.12:36996626:C:T Identity +NM_000249.4:c.1449del NP_000240.1:p.Asp484fs NC_000003.12:37028821:AA:A p.(Asp484MetfsTer7) NC_000003.12:37028821:AA:A p.(Asp484MetfsTer7) NC_000003.12:37028822:A: Analogous +NM_000251.3:c.2334C>A NP_000242.1:p.Cys778Ter NC_000002.12:47478394:C:A p.(Cys778Ter) NC_000002.12:47478394:C:A p.(Cys778Ter) NC_000002.12:47478394:C:A Identity +NM_000251.3:c.643C>T NP_000242.1:p.Gln215Ter NC_000002.12:47410369:C:T p.(Gln215Ter) NC_000002.12:47410369:C:T p.(Gln215Ter) NC_000002.12:47410369:C:T Identity +NM_000251.3:c.728G>A NP_000242.1:p.Arg243Gln NC_000002.12:47412495:G:A p.(Arg243Gln) NC_000002.12:47412495:G:A p.(Arg243Gln) NC_000002.12:47412495:G:A Identity +NM_000462.5:c.1616_1617delinsTGCTAGACAA NP_000453.2:p.Arg539fs NC_000015.10:25370565:CC:TTGTCTAGCA p.(Arg539LeufsTer5) NC_000015.10:25370564:CCC:CTTGTCTAGCA p.(Arg539LeufsTer5) NC_000015.10:25370565:CC:TTGTCTAGCA Analogous +NM_001291867.2:c.400del NP_001278796.1:p.Arg134fs NC_000023.11:17376154:CCC:CC p.(Arg134ValfsTer62) NC_000023.11:17376154:CCC:CC p.(Arg134ValfsTer62) NC_000023.11:17376156:C: Analogous +NM_000059.4:c.1709A>G NP_000050.3:p.Asn570Ser NC_000013.11:32333186:A:G p.(Asn570Ser) NC_000013.11:32333186:A:G p.(Asn570Ser) NC_000013.11:32333186:A:G Identity +NM_000059.4:c.2086G>A NP_000050.3:p.Glu696Lys NC_000013.11:32336440:G:A p.(Glu696Lys) NC_000013.11:32336440:G:A p.(Glu696Lys) NC_000013.11:32336440:G:A Identity +NM_000831.4:c.694G>A NP_000822.2:p.Asp232Asn NC_000001.11:36872225:C:T p.(Asp232Asn) NC_000001.11:36872225:C:T p.(Asp232Asn) NC_000001.11:36872225:C:T Identity +NM_001282145.2:c.2218G>A NP_001269074.1:p.Asp740Asn NC_000023.11:5893049:C:T p.(Asp740Asn) NC_000023.11:5893049:C:T p.(Asp740Asn) NC_000023.11:5893049:C:T Identity +NM_000301.5:c.1469G>A NP_000292.1:p.Arg490Gln NC_000006.12:160731774:G:A p.(Arg490Gln) NC_000006.12:160731774:G:A p.(Arg490Gln) NC_000006.12:160731774:G:A Identity +NM_000249.4:c.2006_2010del NP_000240.1:p.Glu669fs NC_000003.12:37048916:AAGAAAAG:AAG p.(Glu669GlyfsTer4) NC_000003.12:37048916:AAGAAAAG:AAG p.(Glu669GlyfsTer4) NC_000003.12:37048919:AAAAG: Analogous +NM_000249.4:c.739T>C NP_000240.1:p.Ser247Pro NC_000003.12:37014492:T:C p.(Ser247Pro) NC_000003.12:37014492:T:C p.(Ser247Pro) NC_000003.12:37014492:T:C Identity +NM_000251.3:c.1007del NP_000242.1:p.Pro336fs NC_000002.12:47416356:CCCC:CCC p.(Pro336LeufsTer21) NC_000002.12:47416356:CCCC:CCC p.(Pro336LeufsTer21) NC_000002.12:47416359:C: Analogous +NM_000251.3:c.1693A>T NP_000242.1:p.Lys565Ter NC_000002.12:47470995:A:T p.(Lys565Ter) NC_000002.12:47470995:A:T p.(Lys565Ter) NC_000002.12:47470995:A:T Identity +NM_000059.4:c.5813G>C NP_000050.3:p.Gly1938Ala NC_000013.11:32340167:G:C p.(Gly1938Ala) NC_000013.11:32340167:G:C p.(Gly1938Ala) NC_000013.11:32340167:G:C Identity +NM_001407581.1:c.200_201AT[1] NP_001394510.1:p.Ile68Asnfs NC_000017.11:43106463:TATAT:TAT p.(Ile68AsnfsTer12) NC_000017.11:43106466:AT:AT ERR:Parse ERR:Parse Analogous +LRG_292t1:c.2068_2069del LRG_292p1:p.Arg691Thrfs NC_000017.11:43093459:TTTT:TT ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000059.4:c.232C>T NP_000050.3:p.Pro78Ser NC_000013.11:32319240:C:T p.(Pro78Ser) NC_000013.11:32319240:C:T p.(Pro78Ser) NC_000013.11:32319240:C:T Identity +NM_000038.6:c.3730C>A NP_000029.2:p.Gln1244Lys NC_000005.10:112839323:C:A p.(Gln1244Lys) NC_000005.10:112839323:C:A p.(Gln1244Lys) NC_000005.10:112839323:C:A Identity +NM_001135031.2:c.742dup NP_001128503.1:p.His248fs NC_000009.12:132990934:CCC:CCCC p.(His248ProfsTer14) NC_000009.12:132990934:CCC:CCCC p.(His248ProfsTer14) ERR:SPDI Analogous +NM_000311.5:c.631G>C NP_000302.1:p.Glu211Gln NC_000020.11:4699850:G:C p.(Glu211Gln) NC_000020.11:4699850:G:C p.(Glu211Gln) NC_000020.11:4699850:G:C Identity +NM_000179.3:c.3772C>T NP_000170.1:p.Gln1258Ter NC_000002.12:47806328:C:T p.(Gln1258Ter) NC_000002.12:47806328:C:T p.(Gln1258Ter) NC_000002.12:47806328:C:T Identity +NM_000249.4:c.1210dup NP_000240.1:p.Leu404fs NC_000003.12:37025804:CCCC:CCCCC p.(Leu404ProfsTer13) NC_000003.12:37025804:CCCC:CCCCC p.(Leu404ProfsTer13) ERR:SPDI Analogous +NM_000287.4:c.1338_1339del NP_000278.3:p.Ala447fs NC_000006.12:42969695:CACA:CA p.(Ala447CysfsTer17) NC_000006.12:42969695:CACA:CA p.(Ala447CysfsTer17) NC_000006.12:42969695:CA: Analogous +NM_000404.4:c.1174_1175del NP_000395.3:p.Leu392fs NC_000003.12:33021623:AGA:A p.(Leu392ValfsTer64) NC_000003.12:33021623:AGA:A p.(Leu392ValfsTer64) NC_000003.12:33021623:AG: Analogous +NM_000345.4:c.152G>A NP_000336.1:p.Gly51Asp NC_000004.12:89828153:C:T p.(Gly51Asp) NC_000004.12:89828153:C:T p.(Gly51Asp) NC_000004.12:89828153:C:T Identity +NM_000531.6:c.154G>A NP_000522.3:p.Glu52Lys NC_000023.11:38367366:G:A p.(Glu52Lys) NC_000023.11:38367366:G:A p.(Glu52Lys) NC_000023.11:38367366:G:A Identity +NM_000531.6:c.491C>G NP_000522.3:p.Ser164Ter NC_000023.11:38401378:C:G p.(Ser164Ter) NC_000023.11:38401378:C:G p.(Ser164Ter) NC_000023.11:38401378:C:G Identity +NM_000243.3:c.265G>A NP_000234.1:p.Ala89Thr NC_000016.10:3256322:C:T p.(Ala89Thr) NC_000016.10:3256322:C:T p.(Ala89Thr) NC_000016.10:3256322:C:T Identity +NM_000431.4:c.277_283del NP_000422.1:p.Glu93fs NC_000012.12:109579850:GGAGGTTG:G p.(Glu93GlnfsTer38) NC_000012.12:109579850:GGAGGTTG:G p.(Glu93GlnfsTer38) NC_000012.12:109579851:GAGGTTG: Analogous +NM_001065.4:c.241T>C NP_001056.1:p.Cys81Arg NC_000012.12:6333817:A:G p.(Cys81Arg) NC_000012.12:6333817:A:G p.(Cys81Arg) NC_000012.12:6333817:A:G Identity +NM_001065.4:c.265T>G NP_001056.1:p.Phe89Val NC_000012.12:6333793:A:C p.(Phe89Val) NC_000012.12:6333793:A:C p.(Phe89Val) NC_000012.12:6333793:A:C Identity +NM_001065.4:c.267C>A NP_001056.1:p.Phe89Leu NC_000012.12:6333791:G:T p.(Phe89Leu) NC_000012.12:6333791:G:T p.(Phe89Leu) NC_000012.12:6333791:G:T Identity +NM_000021.4:c.104G>A NP_000012.1:p.Arg35Gln NC_000014.9:73170812:G:A p.(Arg35Gln) NC_000014.9:73170812:G:A p.(Arg35Gln) NC_000014.9:73170812:G:A Identity +LRG_224t1:c.788G>T LRG_224p1:p.Cys263Phe NC_000014.9:73198048:G:T ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +NM_002087.4:c.1294C>T NP_002078.1:p.Arg432Cys NC_000017.11:44352128:C:T p.(Arg432Cys) NC_000017.11:44352128:C:T p.(Arg432Cys) NC_000017.11:44352128:C:T Identity +NM_005417.5:c.61G>A NP_005408.1:p.Ala21Thr NC_000020.11:37384213:G:A p.(Ala21Thr) NC_000020.11:37384213:G:A p.(Ala21Thr) NC_000020.11:37384213:G:A Identity +NM_000180.4:c.2078_2085del NP_000171.1:p.Ala693fs NC_000017.11:8012566:GAAGCACAGAAG:GAAG p.(Ala693GlyfsTer20) NC_000017.11:8012566:GAAGCACAGAAG:GAAG p.(Ala693GlyfsTer20) NC_000017.11:8012570:CACAGAAG: Analogous +NM_000180.4:c.2302C>T NP_000171.1:p.Arg768Trp NC_000017.11:8013917:C:T p.(Arg768Trp) NC_000017.11:8013917:C:T p.(Arg768Trp) NC_000017.11:8013917:C:T Identity +NM_000322.5:c.659G>A NP_000313.2:p.Arg220Gln NC_000006.12:42704533:C:T p.(Arg220Gln) NC_000006.12:42704533:C:T p.(Arg220Gln) NC_000006.12:42704533:C:T Identity +NM_000322.5:c.866C>T NP_000313.2:p.Ser289Leu NC_000006.12:42698469:G:A p.(Ser289Leu) NC_000006.12:42698469:G:A p.(Ser289Leu) NC_000006.12:42698469:G:A Identity +NM_000350.3:c.4537dup NP_000341.2:p.Gln1513fs NC_000001.11:94029446:GGGGGGG:GGGGGGGG p.(Gln1513ProfsTer42) NC_000001.11:94029446:GGGGGGG:GGGGGGGG p.(Gln1513ProfsTer42) ERR:SPDI Analogous +NM_000350.3:c.5761G>A NP_000341.2:p.Val1921Met NC_000001.11:94008824:C:T p.(Val1921Met) NC_000001.11:94008824:C:T p.(Val1921Met) NC_000001.11:94008824:C:T Identity +NM_000251.3:c.2653C>T NP_000242.1:p.Gln885Ter NC_000002.12:47482796:C:T p.(Gln885Ter) NC_000002.12:47482796:C:T p.(Gln885Ter) NC_000002.12:47482796:C:T Identity +NM_000251.3:c.592dup NP_000242.1:p.Glu198fs NC_000002.12:47410317:GG:GGG p.(Glu198GlyfsTer34) NC_000002.12:47410317:GG:GGG p.(Glu198GlyfsTer34) ERR:SPDI Analogous +NM_000059.4:c.172G>A NP_000050.3:p.Glu58Lys NC_000013.11:32319180:G:A p.(Glu58Lys) NC_000013.11:32319180:G:A p.(Glu58Lys) NC_000013.11:32319180:G:A Identity +NM_000059.4:c.3010A>G NP_000050.3:p.Ser1004Gly NC_000013.11:32337364:A:G p.(Ser1004Gly) NC_000013.11:32337364:A:G p.(Ser1004Gly) NC_000013.11:32337364:A:G Identity +NM_000059.4:c.4294A>G NP_000050.3:p.Ser1432Gly NC_000013.11:32338648:A:G p.(Ser1432Gly) NC_000013.11:32338648:A:G p.(Ser1432Gly) NC_000013.11:32338648:A:G Identity +NM_001142459.2:c.996C>G NP_001135931.2:p.His332Gln NC_000007.14:151181046:G:C p.(His332Gln) NC_000007.14:151181046:G:C p.(His332Gln) NC_000007.14:151181046:G:C Identity +NM_000110.4:c.3067C>A NP_000101.2:p.Pro1023Thr NC_000001.11:97078986:G:T p.(Pro1023Thr) NC_000001.11:97078986:G:T p.(Pro1023Thr) NC_000001.11:97078986:G:T Identity +NM_000552.5:c.2560C>T NP_000543.3:p.Arg854Trp NC_000012.12:6034812:G:A p.(Arg854Trp) NC_000012.12:6034812:G:A p.(Arg854Trp) NC_000012.12:6034812:G:A Identity +NM_001354623.2:c.1025T>C NP_001341552.1:p.Phe342Ser NC_000003.12:37048961:T:C p.(Phe342Ser) NC_000003.12:37048961:T:C p.(Phe342Ser) NC_000003.12:37048961:T:C Identity +NM_000249.4:c.3G>A NP_000240.1:p.Met1Ile NC_000003.12:36993549:G:A p.(Met1Ile) NC_000003.12:36993549:G:A p.Met1? NC_000003.12:36993549:G:A Identity +NM_003482.4:c.5908_5915del NP_003473.3:p.Asp1970fs NC_000012.12:49042282:GGGCTGTCGGGCT:GGGCT p.(Asp1970LeufsTer20) NC_000012.12:49042282:GGGCTGTCGGGCT:GGGCT p.(Asp1970LeufsTer20) NC_000012.12:49042282:GGGCTGTC: Analogous +NM_000169.3:c.662_663del NP_000160.1:p.Gln221fs NC_000023.11:101398922:CT: p.(Gln221LeufsTer10) NC_000023.11:101398922:CT: p.(Gln221LeufsTer10) NC_000023.11:101398922:CT: Analogous +NM_000552.5:c.6938G>A NP_000543.3:p.Arg2313His NC_000012.12:5985082:C:T p.(Arg2313His) NC_000012.12:5985082:C:T p.(Arg2313His) NC_000012.12:5985082:C:T Identity +NM_000109.4:c.2257_2261del NP_000100.3:p.Glu753fs NC_000023.11:32518014:TTTTCTTTT:TTTT p.(Glu753SerfsTer10) NC_000023.11:32518014:TTTTCTTTT:TTTT p.(Glu753SerfsTer10) NC_000023.11:32518014:TTTTC: Analogous +NM_000249.4:c.9del NP_000240.1:p.Phe3fs NC_000003.12:36993555:C: p.(Phe3LeufsTer14) NC_000003.12:36993555:C: p.(Phe3LeufsTer14) NC_000003.12:36993555:C: Analogous +NM_000251.3:c.1897dup NP_000242.1:p.Ile633fs NC_000002.12:47475161:A:AA p.(Ile633AsnfsTer11) NC_000002.12:47475161:A:AA p.(Ile633AsnfsTer11) ERR:SPDI Analogous +NM_000251.3:c.1986_1987del NP_000242.1:p.Gln662fs NC_000002.12:47475249:AGA:A p.(Gln662HisfsTer13) NC_000002.12:47475249:AGA:A p.(Gln662HisfsTer13) NC_000002.12:47475250:GA: Analogous +NM_000251.3:c.2228C>A NP_000242.1:p.Ser743Ter NC_000002.12:47478288:C:A p.(Ser743Ter) NC_000002.12:47478288:C:A p.(Ser743Ter) NC_000002.12:47478288:C:A Identity +NM_000251.3:c.2545del NP_000242.1:p.Leu849fs NC_000002.12:47480779:CCC:CC p.(Leu849TrpfsTer43) NC_000002.12:47480779:CCC:CC p.(Leu849TrpfsTer43) NC_000002.12:47480781:C: Analogous +NM_000251.3:c.344del NP_000242.1:p.Asn115fs NC_000002.12:47408531:AA:A p.(Asn115MetfsTer59) NC_000002.12:47408531:AA:A p.(Asn115MetfsTer59) NC_000002.12:47408532:A: Analogous +NM_000251.3:c.595T>C NP_000242.1:p.Cys199Arg NC_000002.12:47410321:T:C p.(Cys199Arg) NC_000002.12:47410321:T:C p.(Cys199Arg) NC_000002.12:47410321:T:C Identity +NM_000251.3:c.761del NP_000242.1:p.Asn254fs NC_000002.12:47412527:AA:A p.(Asn254IlefsTer20) NC_000002.12:47412527:AA:A p.(Asn254IlefsTer20) NC_000002.12:47412528:A: Analogous +NM_001407628.1:c.1796T>G NP_001394557.1:p.Ile599Ser NC_000017.11:43093731:A:C p.(Ile599Ser) NC_000017.11:43093731:A:C p.(Ile599Ser) NC_000017.11:43093731:A:C Identity +NM_000059.4:c.512dup NP_000050.3:p.Lys172fs NC_000013.11:32326277:T:TT p.(Lys172GlufsTer11) NC_000013.11:32326277:T:TT p.(Lys172GlufsTer11) ERR:SPDI Analogous +NM_003184.4:c.1945T>C NP_003175.2:p.Trp649Arg NC_000008.11:119783547:A:G p.(Trp649Arg) NC_000008.11:119783547:A:G p.(Trp649Arg) NC_000008.11:119783547:A:G Identity +LRG_1400t1:c.905del LRG_1400p1:p.Lys302fs NC_000011.10:108142513:AA:A ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found +NM_001286130.2:c.934C>T NP_001273059.1:p.Gln312Ter NC_000016.10:57950462:G:A p.(Gln312Ter) NC_000016.10:57950462:G:A p.(Gln312Ter) NC_000016.10:57950462:G:A Identity +NM_001257194.1:c.1184T>C NP_001244123.1:p.Met395Thr NC_000005.10:137637334:A:G p.(Met395Thr) NC_000005.10:137637334:A:G p.(Met395Thr) NC_000005.10:137637334:A:G Identity +NM_000328.3:c.223A>G NP_000319.1:p.Ile75Val NC_000023.11:38322876:T:C p.(Ile75Val) NC_000023.11:38322876:T:C p.(Ile75Val) NC_000023.11:38322876:T:C Identity +NM_024312.5:c.1774G>A NP_077288.2:p.Ala592Thr NC_000012.12:101765142:C:T p.(Ala592Thr) NC_000012.12:101765142:C:T p.(Ala592Thr) NC_000012.12:101765142:C:T Identity +NM_001005505.3:c.1295del NP_001005505.1:p.Asn432fs NC_000003.12:50378958:TT:T p.(Asn432ThrfsTer35) NC_000003.12:50378958:TT:T p.(Asn432ThrfsTer35) NC_000003.12:50378958:T: Analogous +NM_001033855.3:c.1342A>G NP_001029027.1:p.Asn448Asp NC_000010.11:14909144:T:C p.(Asn448Asp) NC_000010.11:14909144:T:C p.(Asn448Asp) NC_000010.11:14909144:T:C Identity +NM_006767.4:c.2348_2351del NP_006758.2:p.Thr783fs NC_000022.11:20996906:ACGCA:A p.(Thr783ArgfsTer5) NC_000022.11:20996906:ACGCA:A p.(Thr783ArgfsTer5) NC_000022.11:20996907:CGCA: Analogous +NM_000090.4:c.2276G>A NP_000081.2:p.Gly759Asp NC_000002.12:188999887:G:A p.(Gly759Asp) NC_000002.12:188999887:G:A p.(Gly759Asp) NC_000002.12:188999887:G:A Identity +NM_000090.4:c.2212G>T NP_000081.2:p.Gly738Cys NC_000002.12:188999559:G:T p.(Gly738Cys) NC_000002.12:188999559:G:T p.(Gly738Cys) NC_000002.12:188999559:G:T Identity +NM_013382.7:c.1417C>T NP_037514.2:p.Arg473Ter NC_000014.9:77285547:G:A p.(Arg473Ter) NC_000014.9:77285547:G:A p.(Arg473Ter) NC_000014.9:77285547:G:A Identity +NM_001330540.2:c.310C>T NP_001317469.1:p.Arg104Ter NC_000001.11:45508846:C:T p.(Arg104Ter) NC_000001.11:45508846:C:T p.(Arg104Ter) NC_000001.11:45508846:C:T Identity +NM_001354663.2:c.1888C>T NP_001341592.1:p.Gln630Ter NC_000003.12:193658976:C:T p.(Gln630Ter) NC_000003.12:193658976:C:T p.(Gln630Ter) NC_000003.12:193658976:C:T Identity +NM_133433.4:c.8377C>T NP_597677.2:p.Arg2793Ter NC_000005.10:37064853:C:T p.(Arg2793Ter) NC_000005.10:37064853:C:T p.(Arg2793Ter) NC_000005.10:37064853:C:T Identity +NM_000059.4:c.9821T>G NP_000050.3:p.Leu3274Trp NC_000013.11:32398333:T:G p.(Leu3274Trp) NC_000013.11:32398333:T:G p.(Leu3274Trp) NC_000013.11:32398333:T:G Identity +LRG_292t1:c.998C>T LRG_292p1:p.Thr333Ile NC_000017.11:43094532:G:A ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000531.6:c.232C>T NP_000522.3:p.Gln78Ter NC_000023.11:38369810:C:T p.(Gln78Ter) NC_000023.11:38369810:C:T p.(Gln78Ter) NC_000023.11:38369810:C:T Identity +NM_000531.6:c.514A>T NP_000522.3:p.Ile172Phe NC_000023.11:38401401:A:T p.(Ile172Phe) NC_000023.11:38401401:A:T p.(Ile172Phe) NC_000023.11:38401401:A:T Identity +NM_001065.4:c.284A>T NP_001056.1:p.His95Leu NC_000012.12:6333774:T:A p.(His95Leu) NC_000012.12:6333774:T:A p.(His95Leu) NC_000012.12:6333774:T:A Identity +NM_001127255.2:c.1970A>T NP_001120727.1:p.Asp657Val NC_000019.10:54938202:T:A p.(Asp657Val) NC_000019.10:54938202:T:A p.(Asp657Val) NC_000019.10:54938202:T:A Identity +NM_001079821.3:c.1438A>T NP_001073289.2:p.Ile480Phe NC_000001.11:247424886:A:T p.(Ile480Phe) NC_000001.11:247424886:A:T p.(Ile480Phe) NC_000001.11:247424886:A:T Identity +NM_001079821.3:c.1760C>T NP_001073289.2:p.Thr587Ile NC_000001.11:247425208:C:T p.(Thr587Ile) NC_000001.11:247425208:C:T p.(Thr587Ile) NC_000001.11:247425208:C:T Identity +LRG_224t1:c.697A>T LRG_224p1:p.Met233Leu NC_000014.9:73192791:A:T ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +LRG_224t1:c.818A>C LRG_224p1:p.Glu273Ala NC_000014.9:73198078:A:C ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +NM_002087.4:c.328C>T NP_002078.1:p.Arg110Ter NC_000017.11:44349729:C:T p.(Arg110Ter) NC_000017.11:44349729:C:T p.(Arg110Ter) NC_000017.11:44349729:C:T Identity +NM_001012957.2:c.1291A>G NP_001012975.1:p.Thr431Ala NC_000001.11:231767161:A:G p.(Thr431Ala) NC_000001.11:231767161:A:G p.(Thr431Ala) NC_000001.11:231767161:A:G Identity +NM_000328.3:c.836_837del NP_000319.1:p.Phe279fs NC_000023.11:38304731:AAAA:AA p.(Phe279SerfsTer3) NC_000023.11:38304731:AAAA:AA p.(Phe279SerfsTer3) NC_000023.11:38304731:AA: Analogous +NM_000329.3:c.208_209delinsGG NP_000320.1:p.Phe70Gly NC_000001.11:68446745:AA:CC p.(Phe70Gly) NC_000001.11:68446745:AA:CC p.(Phe70Gly) NC_000001.11:68446745:AA:CC Identity +NM_000350.3:c.1819G>T NP_000341.2:p.Gly607Trp NC_000001.11:94062694:C:A p.(Gly607Trp) NC_000001.11:94062694:C:A p.(Gly607Trp) NC_000001.11:94062694:C:A Identity +NM_000350.3:c.4594G>A NP_000341.2:p.Asp1532Asn NC_000001.11:94024993:C:T p.(Asp1532Asn) NC_000001.11:94024993:C:T p.(Asp1532Asn) NC_000001.11:94024993:C:T Identity +NM_000431.4:c.632G>A NP_000422.1:p.Gly211Glu NC_000012.12:109586753:G:A p.(Gly211Glu) NC_000012.12:109586753:G:A p.(Gly211Glu) NC_000012.12:109586753:G:A Identity +NM_000431.4:c.632G>C NP_000422.1:p.Gly211Ala NC_000012.12:109586753:G:C p.(Gly211Ala) NC_000012.12:109586753:G:C p.(Gly211Ala) NC_000012.12:109586753:G:C Identity +NM_000431.4:c.986G>A NP_000422.1:p.Ser329Asn NC_000012.12:109595127:G:A p.(Ser329Asn) NC_000012.12:109595127:G:A p.(Ser329Asn) NC_000012.12:109595127:G:A Identity +LRG_224t1:c.417G>A LRG_224p1:p.Met139Ile NC_000014.9:73173643:G:A ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +NM_001271667.2:c.777G>C NP_001258596.1:p.Glu259Asp NC_000006.12:15523010:C:G p.(Glu259Asp) NC_000006.12:15523010:C:G p.(Glu259Asp) NC_000006.12:15523010:C:G Identity +NM_001278236.1:c.1157C>T NP_001265165.1:p.Ala386Val NC_000011.10:18732667:G:A p.(Ala386Val) NC_000011.10:18732667:G:A p.(Ala386Val) NC_000011.10:18732667:G:A Identity +NM_000350.3:c.1036A>T NP_000341.2:p.Lys346Ter NC_000001.11:94080540:T:A p.(Lys346Ter) NC_000001.11:94080540:T:A p.(Lys346Ter) NC_000001.11:94080540:T:A Identity +NM_000350.3:c.5107C>G NP_000341.2:p.Gln1703Glu NC_000001.11:94019670:G:C p.(Gln1703Glu) NC_000001.11:94019670:G:C p.(Gln1703Glu) NC_000001.11:94019670:G:C Identity +NM_000350.3:c.666_676del NP_000341.2:p.Lys223fs NC_000001.11:94098885:GCACCGTCTTTGC:GC p.(Lys223LeufsTer53) NC_000001.11:94098885:GCACCGTCTTTGC:GC p.(Lys223LeufsTer53) NC_000001.11:94098885:GCACCGTCTTT: Analogous +NM_000350.3:c.666_678del NP_000341.2:p.Lys223fs NC_000001.11:94098883:GCGCACCGTCTTTGC:GC p.(Lys223MetfsTer14) NC_000001.11:94098883:GCGCACCGTCTTTGC:GC p.(Lys223MetfsTer14) NC_000001.11:94098883:GCGCACCGTCTTT: Analogous +NM_000350.3:c.6764G>T NP_000341.2:p.Ser2255Ile NC_000001.11:93996160:C:A p.(Ser2255Ile) NC_000001.11:93996160:C:A p.(Ser2255Ile) NC_000001.11:93996160:C:A Identity +NM_001142459.2:c.908G>A NP_001135931.2:p.Arg303His NC_000007.14:151181134:C:T p.(Arg303His) NC_000007.14:151181134:C:T p.(Arg303His) NC_000007.14:151181134:C:T Identity +NM_000552.5:c.3797C>A NP_000543.3:p.Pro1266Gln NC_000012.12:6019620:G:T p.(Pro1266Gln) NC_000012.12:6019620:G:T p.(Pro1266Gln) NC_000012.12:6019620:G:T Identity +NM_000552.5:c.5890C>A NP_000543.3:p.Gln1964Lys NC_000012.12:5996174:G:T p.(Gln1964Lys) NC_000012.12:5996174:G:T p.(Gln1964Lys) NC_000012.12:5996174:G:T Identity +NM_001171087.3:c.828dup NP_001164558.1:p.Arg277fs NC_000003.12:184357431:CC:CCC p.(Arg277AlafsTer23) NC_000003.12:184357431:CC:CCC p.(Arg277AlafsTer23) ERR:SPDI Analogous +NM_006563.5:c.13G>A NP_006554.1:p.Glu5Lys NC_000019.10:12887127:C:T p.(Glu5Lys) NC_000019.10:12887127:C:T p.(Glu5Lys) NC_000019.10:12887127:C:T Identity +NM_000896.3:c.824G>A NP_000887.2:p.Arg275His NC_000019.10:15650088:G:A p.(Arg275His) NC_000019.10:15650088:G:A p.(Arg275His) NC_000019.10:15650088:G:A Identity +NM_000090.4:c.2068G>A NP_000081.2:p.Gly690Arg NC_000002.12:188999329:G:A p.(Gly690Arg) NC_000002.12:188999329:G:A p.(Gly690Arg) NC_000002.12:188999329:G:A Identity +NM_000090.4:c.1844G>A NP_000081.2:p.Gly615Glu NC_000002.12:188997363:G:A p.(Gly615Glu) NC_000002.12:188997363:G:A p.(Gly615Glu) NC_000002.12:188997363:G:A Identity +NM_001918.5:c.1291C>T NP_001909.4:p.Arg431Ter NC_000001.11:100196412:G:A p.(Arg431Ter) NC_000001.11:100196412:G:A p.(Arg431Ter) NC_000001.11:100196412:G:A Identity +NM_000350.3:c.658C>T NP_000341.2:p.Arg220Cys NC_000001.11:94098903:G:A p.(Arg220Cys) NC_000001.11:94098903:G:A p.(Arg220Cys) NC_000001.11:94098903:G:A Identity +NM_000372.5:c.895C>A NP_000363.1:p.Arg299Ser NC_000011.10:89191276:C:A p.(Arg299Ser) NC_000011.10:89191276:C:A p.(Arg299Ser) NC_000011.10:89191276:C:A Identity +NM_000554.6:c.425A>G NP_000545.1:p.Tyr142Cys NC_000019.10:47839491:A:G p.(Tyr142Cys) NC_000019.10:47839491:A:G p.(Tyr142Cys) NC_000019.10:47839491:A:G Identity +NM_001142459.2:c.958G>A NP_001135931.2:p.Ala320Thr NC_000007.14:151181084:C:T p.(Ala320Thr) NC_000007.14:151181084:C:T p.(Ala320Thr) NC_000007.14:151181084:C:T Identity +NM_000255.4:c.323G>A NP_000246.2:p.Arg108His NC_000006.12:49459143:C:T p.(Arg108His) NC_000006.12:49459143:C:T p.(Arg108His) NC_000006.12:49459143:C:T Identity +NM_144628.4:c.292C>T NP_653229.1:p.Gln98Ter NC_000020.11:445094:G:A p.(Gln98Ter) NC_000020.11:445094:G:A p.(Gln98Ter) NC_000020.11:445094:G:A Identity +NM_000090.4:c.1970G>A NP_000081.2:p.Gly657Glu NC_000002.12:188998311:G:A p.(Gly657Glu) NC_000002.12:188998311:G:A p.(Gly657Glu) NC_000002.12:188998311:G:A Identity +NM_001252678.2:c.1032_1033del NP_001239607.1:p.Ile344fs NC_000015.10:72737574:AA: p.(Ile344MetfsTer8) NC_000015.10:72737574:AA: p.(Ile344MetfsTer8) NC_000015.10:72737574:AA: Analogous +NM_001353229.2:c.944_947del NP_001340158.1:p.Glu315fs NC_000017.11:17219187:CTTTCT:CT p.(Glu315AlafsTer25) NC_000017.11:17219187:CTTTCT:CT p.(Glu315AlafsTer25) NC_000017.11:17219187:CTTT: Analogous +NM_000059.4:c.2071G>A NP_000050.3:p.Ala691Thr NC_000013.11:32336425:G:A p.(Ala691Thr) NC_000013.11:32336425:G:A p.(Ala691Thr) NC_000013.11:32336425:G:A Identity +NM_015662.3:c.2716C>T NP_056477.1:p.Gln906Ter NC_000002.12:27459448:G:A p.(Gln906Ter) NC_000002.12:27459448:G:A p.(Gln906Ter) NC_000002.12:27459448:G:A Identity +NM_000531.6:c.479T>A NP_000522.3:p.Ile160Asn NC_000023.11:38401366:T:A p.(Ile160Asn) NC_000023.11:38401366:T:A p.(Ile160Asn) NC_000023.11:38401366:T:A Identity +NM_000531.6:c.506C>T NP_000522.3:p.Pro169Leu NC_000023.11:38401393:C:T p.(Pro169Leu) NC_000023.11:38401393:C:T p.(Pro169Leu) NC_000023.11:38401393:C:T Identity +NM_000531.6:c.577T>G NP_000522.3:p.Trp193Gly NC_000023.11:38403653:T:G p.(Trp193Gly) NC_000023.11:38403653:T:G p.(Trp193Gly) NC_000023.11:38403653:T:G Identity +NM_000531.6:c.593A>T NP_000522.3:p.Asn198Ile NC_000023.11:38403669:A:T p.(Asn198Ile) NC_000023.11:38403669:A:T p.(Asn198Ile) NC_000023.11:38403669:A:T Identity +NM_001065.4:c.200A>G NP_001056.1:p.Tyr67Cys NC_000012.12:6333858:T:C p.(Tyr67Cys) NC_000012.12:6333858:T:C p.(Tyr67Cys) NC_000012.12:6333858:T:C Identity +NM_001065.4:c.361C>T NP_001056.1:p.Arg121Trp NC_000012.12:6333477:G:A p.(Arg121Trp) NC_000012.12:6333477:G:A p.(Arg121Trp) NC_000012.12:6333477:G:A Identity +NM_001293557.2:c.1361G>A NP_001280486.1:p.Gly454Asp NC_000016.10:50711352:G:A p.(Gly454Asp) NC_000016.10:50711352:G:A p.(Gly454Asp) NC_000016.10:50711352:G:A Identity +NM_001079821.3:c.1699G>A NP_001073289.2:p.Glu567Lys NC_000001.11:247425147:G:A p.(Glu567Lys) NC_000001.11:247425147:G:A p.(Glu567Lys) NC_000001.11:247425147:G:A Identity +NM_000021.4:c.403A>G NP_000012.1:p.Asn135Asp NC_000014.9:73173629:A:G p.(Asn135Asp) NC_000014.9:73173629:A:G p.(Asn135Asp) NC_000014.9:73173629:A:G Identity +LRG_224t1:c.638T>C LRG_224p1:p.Ile213Thr NC_000014.9:73192732:T:C ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +LRG_224t1:c.1157T>C LRG_224p1:p.Phe386Ser NC_000014.9:73217152:T:C ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:Data provider error: ValueError: Transcript LRG_224t1 not found ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_224t1, alt_ac=LRG_224t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_224t1 not found +NM_001159995.3:c.794A>G NP_001153467.1:p.His265Arg NC_000008.11:32756491:A:G p.(His265Arg) NC_000008.11:32756491:A:G p.(His265Arg) NC_000008.11:32756491:A:G Identity +NM_001161812.1:c.60G>T NP_001155284.1:p.Gly20= NC_000013.11:105472656:G:T p.(Gly20=) NC_000013.11:105472656:G:T p.(Gly20=) NC_000013.11:105472656:G:T Identity +NM_001161812.1:c.350A>G NP_001155284.1:p.Lys117Arg NC_000013.11:105490052:A:G p.(Lys117Arg) NC_000013.11:105490052:A:G p.(Lys117Arg) NC_000013.11:105490052:A:G Identity +NM_000273.3:c.518C>A NP_000264.2:p.Ala173Asp NC_000023.11:9748603:G:T p.(Ala173Asp) NC_000023.11:9748603:G:T p.(Ala173Asp) NC_000023.11:9748603:G:T Identity +NM_000273.3:c.870_872del NP_000264.2:p.Thr291del NC_000023.11:9741350:GTGGT:GT p.(Thr291del) NC_000023.11:9741350:GTGGT:GT p.(Thr291del) NC_000023.11:9741350:GTG: Identity +NM_000329.3:c.254G>A NP_000320.1:p.Arg85His NC_000001.11:68444874:C:T p.(Arg85His) NC_000001.11:68444874:C:T p.(Arg85His) NC_000001.11:68444874:C:T Identity +NM_000350.3:c.3278A>G NP_000341.2:p.Asp1093Gly NC_000001.11:94042810:T:C p.(Asp1093Gly) NC_000001.11:94042810:T:C p.(Asp1093Gly) NC_000001.11:94042810:T:C Identity +NM_000350.3:c.5413A>G NP_000341.2:p.Asn1805Asp NC_000001.11:94014589:T:C p.(Asn1805Asp) NC_000001.11:94014589:T:C p.(Asn1805Asp) NC_000001.11:94014589:T:C Identity +NM_000350.3:c.5951_5952inv NP_000341.2:p.Met1984Thr NC_000001.11:94007686:CA:TG p.(Met1984Thr) NC_000001.11:94007686:CA:TG p.(Met1984Thr) ERR:SPDI Identity +NM_000350.3:c.6519_6529del NP_000341.2:p.Lys2175fs NC_000001.11:93998060:CGTCCTTCGGG: p.(Lys2175AlafsTer3) NC_000001.11:93998060:CGTCCTTCGGG: p.(Lys2175AlafsTer3) NC_000001.11:93998060:CGTCCTTCGGG: Analogous +NM_000554.6:c.335C>T NP_000545.1:p.Ala112Val NC_000019.10:47839401:C:T p.(Ala112Val) NC_000019.10:47839401:C:T p.(Ala112Val) NC_000019.10:47839401:C:T Identity +NM_001285403.4:c.778G>A NP_001272332.1:p.Gly260Ser NC_000017.11:6426596:C:T p.(Gly260Ser) NC_000017.11:6426596:C:T p.(Gly260Ser) NC_000017.11:6426596:C:T Identity +NM_015384.5:c.2592T>A NP_056199.2:p.Asp864Glu NC_000005.10:36985771:T:A p.(Asp864Glu) NC_000005.10:36985771:T:A p.(Asp864Glu) NC_000005.10:36985771:T:A Identity +NM_015384.5:c.6631G>T NP_056199.2:p.Glu2211Ter NC_000005.10:37048542:G:T p.(Glu2211Ter) NC_000005.10:37048542:G:T p.(Glu2211Ter) NC_000005.10:37048542:G:T Identity +NM_000552.5:c.2540dup NP_000543.3:p.Asn847fs NC_000012.12:6036393:TT:TTT p.(Asn847LysfsTer18) NC_000012.12:6036393:TT:TTT p.(Asn847LysfsTer18) ERR:SPDI Analogous +NM_000552.5:c.374_387del NP_000543.3:p.Gly125fs NC_000012.12:6110518:CAGCTTGTAGTACCCAGC:CAGC p.(Gly125ValfsTer3) NC_000012.12:6110518:CAGCTTGTAGTACCCAGC:CAGC p.(Gly125ValfsTer3) NC_000012.12:6110518:CAGCTTGTAGTACC: Analogous +NM_000552.5:c.3920T>C NP_000543.3:p.Leu1307Pro NC_000012.12:6019497:A:G p.(Leu1307Pro) NC_000012.12:6019497:A:G p.(Leu1307Pro) NC_000012.12:6019497:A:G Identity +NM_001286130.2:c.2729G>A NP_001273059.1:p.Arg910His NC_000016.10:57903868:C:T p.(Arg910His) NC_000016.10:57903868:C:T p.(Arg910His) NC_000016.10:57903868:C:T Identity +NM_001037132.4:c.3764T>G NP_001032209.1:p.Leu1255Arg NC_000007.14:108150060:A:C p.(Leu1255Arg) NC_000007.14:108150060:A:C p.(Leu1255Arg) NC_000007.14:108150060:A:C Identity +NM_018451.5:c.3725G>A NP_060921.3:p.Arg1242Lys NC_000013.11:24884061:C:T p.(Arg1242Lys) NC_000013.11:24884061:C:T p.(Arg1242Lys) NC_000013.11:24884061:C:T Identity +NM_000090.4:c.970G>A NP_000081.2:p.Gly324Ser NC_000002.12:188992201:G:A p.(Gly324Ser) NC_000002.12:188992201:G:A p.(Gly324Ser) NC_000002.12:188992201:G:A Identity +NM_000277.3:c.439C>T NP_000268.1:p.Pro147Ser NC_000012.12:102877463:G:A p.(Pro147Ser) NC_000012.12:102877463:G:A p.(Pro147Ser) NC_000012.12:102877463:G:A Identity +NM_000277.3:c.1249T>A NP_000268.1:p.Tyr417Asn NC_000012.12:102840465:A:T p.(Tyr417Asn) NC_000012.12:102840465:A:T p.(Tyr417Asn) NC_000012.12:102840465:A:T Identity +NM_000277.3:c.1055del NP_000268.1:p.Gly352fs NC_000012.12:102844345:CC:C p.(Gly352ValfsTer48) NC_000012.12:102844345:CC:C p.(Gly352ValfsTer48) NC_000012.12:102844345:C: Analogous +NM_000277.3:c.1237C>A NP_000268.1:p.Arg413Ser NC_000012.12:102840477:G:T p.(Arg413Ser) NC_000012.12:102840477:G:T p.(Arg413Ser) NC_000012.12:102840477:G:T Identity +NM_000277.3:c.510T>A NP_000268.1:p.His170Gln NC_000012.12:102855331:A:T p.(His170Gln) NC_000012.12:102855331:A:T p.(His170Gln) NC_000012.12:102855331:A:T Identity +NM_000277.3:c.527G>A NP_000268.1:p.Arg176Gln NC_000012.12:102855314:C:T p.(Arg176Gln) NC_000012.12:102855314:C:T p.(Arg176Gln) NC_000012.12:102855314:C:T Identity +NM_000277.3:c.569T>C NP_000268.1:p.Val190Ala NC_000012.12:102855272:A:G p.(Val190Ala) NC_000012.12:102855272:A:G p.(Val190Ala) NC_000012.12:102855272:A:G Identity +NM_000277.3:c.793T>G NP_000268.1:p.Cys265Gly NC_000012.12:102852863:A:C p.(Cys265Gly) NC_000012.12:102852863:A:C p.(Cys265Gly) NC_000012.12:102852863:A:C Identity +NM_000277.3:c.722G>T NP_000268.1:p.Arg241Leu NC_000012.12:102852934:C:A p.(Arg241Leu) NC_000012.12:102852934:C:A p.(Arg241Leu) NC_000012.12:102852934:C:A Identity +NM_000277.3:c.737C>A NP_000268.1:p.Ala246Asp NC_000012.12:102852919:G:T p.(Ala246Asp) NC_000012.12:102852919:G:T p.(Ala246Asp) NC_000012.12:102852919:G:T Identity +NM_000277.3:c.853C>T NP_000268.1:p.His285Tyr NC_000012.12:102851745:G:A p.(His285Tyr) NC_000012.12:102851745:G:A p.(His285Tyr) NC_000012.12:102851745:G:A Identity +NM_178844.4:c.2583C>G NP_849172.2:p.Asn861Lys NC_000016.10:3549161:G:C p.(Asn861Lys) NC_000016.10:3549161:G:C p.(Asn861Lys) NC_000016.10:3549161:G:C Identity +NM_000277.3:c.580_581del NP_000268.1:p.Leu194fs NC_000012.12:102855260:AGAG:AG p.(Leu194GlufsTer5) NC_000012.12:102855260:AGAG:AG p.(Leu194GlufsTer5) NC_000012.12:102855260:AG: Analogous +NM_000277.3:c.791A>T NP_000268.1:p.His264Leu NC_000012.12:102852865:T:A p.(His264Leu) NC_000012.12:102852865:T:A p.(His264Leu) NC_000012.12:102852865:T:A Identity +NM_001329128.2:c.946G>A NP_001316057.1:p.Asp316Asn NC_000021.9:33436836:G:A p.(Asp316Asn) NC_000021.9:33436836:G:A p.(Asp316Asn) NC_000021.9:33436836:G:A Identity +NM_000277.3:c.350del NP_000268.1:p.Thr117fs NC_000012.12:102894736:G: p.(Thr117LysfsTer78) NC_000012.12:102894736:G: p.(Thr117LysfsTer78) NC_000012.12:102894736:G: Analogous +NM_000246.4:c.2356C>A NP_000237.2:p.Gln786Lys NC_000016.10:10907847:C:A p.(Gln786Lys) NC_000016.10:10907847:C:A p.(Gln786Lys) NC_000016.10:10907847:C:A Identity +NM_001394553.1:c.2124G>C NP_001381482.1:p.Gln708His NC_000004.12:38827349:C:G p.(Gln708His) NC_000004.12:38827349:C:G p.(Gln708His) NC_000004.12:38827349:C:G Identity +NM_000277.3:c.916del NP_000268.1:p.Ile306fs NC_000012.12:102846947:TTT:TT p.(Ile306LeufsTer35) NC_000012.12:102846947:TTT:TT p.(Ile306LeufsTer35) NC_000012.12:102846947:T: Analogous +NM_024605.4:c.716T>A NP_078881.3:p.Phe239Tyr NC_000004.12:147875033:T:A p.(Phe239Tyr) NC_000004.12:147875033:T:A p.(Phe239Tyr) NC_000004.12:147875033:T:A Identity +LRG_292t1:c.3158_3159insG LRG_292p1:p.Val1054Serfs NC_000017.11:43092372::C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_178844.4:c.2938G>A NP_849172.2:p.Asp980Asn NC_000016.10:3543425:C:T p.(Asp980Asn) NC_000016.10:3543425:C:T p.(Asp980Asn) NC_000016.10:3543425:C:T Identity +NM_178844.4:c.1870C>T NP_849172.2:p.Leu624Phe NC_000016.10:3563066:G:A p.(Leu624Phe) NC_000016.10:3563066:G:A p.(Leu624Phe) NC_000016.10:3563066:G:A Identity +NM_001039885.3:c.1A>G NP_001034974.1:p.Met1Val NC_000019.10:46755450:A:G p.(Met1Val) NC_000019.10:46755450:A:G p.Met1? NC_000019.10:46755450:A:G Identity +NM_001407752.1:c.3115_3116insGA NP_001394681.1:p.Leu1039Ter NC_000017.11:43092274::TC p.(Leu1039Ter) NC_000017.11:43092273:A:TC p.(Leu1039Ter) NC_000017.11:43092274:AA:TC Identity +NM_000059.4:c.2212dup NP_000050.3:p.Cys738fs NC_000013.11:32336566:T:TT p.(Cys738LeufsTer13) NC_000013.11:32336566:T:TT p.(Cys738LeufsTer13) ERR:SPDI Analogous +NM_001127897.4:c.3550G>A NP_001121369.1:p.Asp1184Asn NC_000016.10:53605525:C:T p.(Asp1184Asn) NC_000016.10:53605525:C:T p.(Asp1184Asn) NC_000016.10:53605525:C:T Identity +NM_005472.5:c.10A>G NP_005463.1:p.Thr4Ala NC_000011.10:74457553:T:C p.(Thr4Ala) NC_000011.10:74457553:T:C p.(Thr4Ala) NC_000011.10:74457553:T:C Identity +NM_000356.4:c.2876dup NP_000347.2:p.Ser959fs NC_000005.10:150389946:G:GG p.(Ser959ArgfsTer51) NC_000005.10:150389946:G:GG p.(Ser959ArgfsTer51) ERR:SPDI Analogous +NM_001080442.3:c.1002del NP_001073911.1:p.Ser336fs NC_000016.10:84016678:CCCCC:CCCC p.(Ser336AlafsTer15) NC_000016.10:84016678:CCCCC:CCCC p.(Ser336AlafsTer15) NC_000016.10:84016678:C: Analogous +NM_001407571.1:c.1885_1886insA NP_001394500.1:p.Leu629fs NC_000017.11:43093432::T p.(Leu629HisfsTer12) NC_000017.11:43093431:A:T p.(Leu629HisfsTer12) NC_000017.11:43093432:AG:T Analogous +NM_001407964.1:c.28delG NP_001394893.1:p.Pro11Leufs NC_000017.11:43106496:CCC:CC p.(Pro11LeufsTer11) NC_000017.11:43106496:CCC:CC p.(Pro11LeufsTer11) NC_000017.11:43106498:C: Analogous +NM_001407571.1:c.3617dup NP_001394500.1:p.Ala1208fs NC_000017.11:43091700:G:GG p.(Ala1208GlyfsTer8) NC_000017.11:43091700:G:GG p.(Ala1208GlyfsTer8) ERR:SPDI Analogous +NM_000059.4:c.3458del NP_000050.3:p.Lys1153fs NC_000013.11:32337810:AAA:AA p.(Lys1153ArgfsTer15) NC_000013.11:32337810:AAA:AA p.(Lys1153ArgfsTer15) NC_000013.11:32337812:A: Analogous +NM_001407645.1:c.2435dup NP_001394574.1:p.Leu813fs NC_000017.11:43093092:CCC:CCCC p.(Leu813ThrfsTer9) NC_000017.11:43093092:CCC:CCCC p.(Leu813ThrfsTer9) ERR:SPDI Analogous +NM_000059.4:c.6391_6392insT NP_000050.3:p.Lys2131fs NC_000013.11:32340746::T p.(Lys2131IlefsTer5) NC_000013.11:32340745:A:T p.(Lys2131IlefsTer5) NC_000013.11:32340746:AA:T Analogous +NM_001143850.3:c.596G>A NP_001137322.1:p.Arg199Gln NC_000012.12:123686869:G:A p.(Arg199Gln) NC_000012.12:123686869:G:A p.(Arg199Gln) NC_000012.12:123686869:G:A Identity +NM_001142301.1:c.505G>A NP_001135773.1:p.Gly169Arg NC_000008.11:93780625:G:A p.(Gly169Arg) NC_000008.11:93780625:G:A p.(Gly169Arg) NC_000008.11:93780625:G:A Identity +NM_024675.4:c.110G>A NP_078951.2:p.Arg37His NC_000016.10:23637950:C:T p.(Arg37His) NC_000016.10:23637950:C:T p.(Arg37His) NC_000016.10:23637950:C:T Identity +NM_000038.6:c.2942C>G NP_000029.2:p.Pro981Arg NC_000005.10:112838535:C:G p.(Pro981Arg) NC_000005.10:112838535:C:G p.(Pro981Arg) NC_000005.10:112838535:C:G Identity +NM_000057.4:c.1928G>A NP_000048.1:p.Arg643His NC_000015.10:90763010:G:A p.(Arg643His) NC_000015.10:90763010:G:A p.(Arg643His) NC_000015.10:90763010:G:A Identity +NM_000179.3:c.515T>C NP_000170.1:p.Ile172Thr NC_000002.12:47795950:T:C p.(Ile172Thr) NC_000002.12:47795950:T:C p.(Ile172Thr) NC_000002.12:47795950:T:C Identity +NM_000251.3:c.1709A>G NP_000242.1:p.Tyr570Cys NC_000002.12:47471011:A:G p.(Tyr570Cys) NC_000002.12:47471011:A:G p.(Tyr570Cys) NC_000002.12:47471011:A:G Identity +NM_000465.4:c.841C>T NP_000456.2:p.Pro281Ser NC_000002.12:214781032:G:A p.(Pro281Ser) NC_000002.12:214781032:G:A p.(Pro281Ser) NC_000002.12:214781032:G:A Identity +NM_000428.3:c.1553G>T NP_000419.1:p.Ser518Ile NC_000014.9:74551196:C:A p.(Ser518Ile) NC_000014.9:74551196:C:A p.(Ser518Ile) NC_000014.9:74551196:C:A Identity +NM_001080517.3:c.3856del NP_001073986.1:p.Ser1286fs NC_000003.12:9475617:T: p.(Ser1286LeufsTer84) NC_000003.12:9475617:T: p.(Ser1286LeufsTer84) NC_000003.12:9475617:T: Analogous +NM_000038.6:c.3378C>G NP_000029.2:p.Ser1126Arg NC_000005.10:112838971:C:G p.(Ser1126Arg) NC_000005.10:112838971:C:G p.(Ser1126Arg) NC_000005.10:112838971:C:G Identity +NM_000038.6:c.8068G>A NP_000029.2:p.Ala2690Thr NC_000005.10:112843661:G:A p.(Ala2690Thr) NC_000005.10:112843661:G:A p.(Ala2690Thr) NC_000005.10:112843661:G:A Identity +NM_001317184.2:c.1451G>A NP_001304113.1:p.Arg484Gln NC_000016.10:68819347:G:A p.(Arg484Gln) NC_000016.10:68819347:G:A p.(Arg484Gln) NC_000016.10:68819347:G:A Identity +NM_006361.6:c.251G>A NP_006352.2:p.Gly84Glu NC_000017.11:48728342:C:T p.(Gly84Glu) NC_000017.11:48728342:C:T p.(Gly84Glu) NC_000017.11:48728342:C:T Identity +NM_024675.4:c.2509G>A NP_078951.2:p.Glu837Lys NC_000016.10:23629644:C:T p.(Glu837Lys) NC_000016.10:23629644:C:T p.(Glu837Lys) NC_000016.10:23629644:C:T Identity +NM_032043.3:c.1898T>C NP_114432.2:p.Ile633Thr NC_000017.11:61780297:A:G p.(Ile633Thr) NC_000017.11:61780297:A:G p.(Ile633Thr) NC_000017.11:61780297:A:G Identity +NM_000383.4:c.1411C>T NP_000374.1:p.Arg471Cys NC_000021.9:44294410:C:T p.(Arg471Cys) NC_000021.9:44294410:C:T p.(Arg471Cys) NC_000021.9:44294410:C:T Identity +NM_024675.4:c.298C>T NP_078951.2:p.Leu100Phe NC_000016.10:23636247:G:A p.(Leu100Phe) NC_000016.10:23636247:G:A p.(Leu100Phe) NC_000016.10:23636247:G:A Identity +NM_024675.4:c.3128G>C NP_078951.2:p.Gly1043Ala NC_000016.10:23614076:C:G p.(Gly1043Ala) NC_000016.10:23614076:C:G p.(Gly1043Ala) NC_000016.10:23614076:C:G Identity +NM_024675.4:c.344G>T NP_078951.2:p.Gly115Val NC_000016.10:23636201:C:A p.(Gly115Val) NC_000016.10:23636201:C:A p.(Gly115Val) NC_000016.10:23636201:C:A Identity +NM_024675.4:c.395del NP_078951.2:p.Val132fs NC_000016.10:23636150:A: p.(Val132AlafsTer45) NC_000016.10:23636150:A: p.(Val132AlafsTer45) NC_000016.10:23636150:A: Analogous +NM_000068.4:c.3040C>G NP_000059.3:p.Pro1014Ala NC_000019.10:13298604:G:C p.(Pro1014Ala) NC_000019.10:13298604:G:C p.(Pro1014Ala) NC_000019.10:13298604:G:C Identity +NM_144508.5:c.4339A>G NP_653091.3:p.Thr1447Ala NC_000015.10:40624602:A:G p.(Thr1447Ala) NC_000015.10:40624602:A:G p.(Thr1447Ala) NC_000015.10:40624602:A:G Identity +NM_000051.4:c.1516G>T NP_000042.3:p.Gly506Cys NC_000011.10:108250980:G:T p.(Gly506Cys) NC_000011.10:108250980:G:T p.(Gly506Cys) NC_000011.10:108250980:G:T Identity +NM_000057.4:c.2695C>T NP_000048.1:p.Arg899Ter NC_000015.10:90784952:C:T p.(Arg899Ter) NC_000015.10:90784952:C:T p.(Arg899Ter) NC_000015.10:90784952:C:T Identity +LRG_153t1:c.1022T>C LRG_153p1:p.Leu341Pro NC_000001.11:32279727:T:C ERR:Data provider error: ValueError: Transcript LRG_153t1 not found ERR:Data provider error: ValueError: Transcript LRG_153t1 not found ERR:AlignmentMapper(tx_ac=LRG_153t1, alt_ac=LRG_153t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_153t1, alt_ac=LRG_153t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_153t1 not found +NM_000816.3:c.247C>T NP_000807.2:p.Pro83Ser NC_000005.10:162093966:C:T p.(Pro83Ser) NC_000005.10:162093966:C:T p.(Pro83Ser) NC_000005.10:162093966:C:T Identity +NM_001301071.2:c.887A>G NP_001288000.1:p.Gln296Arg NC_000004.12:3492872:A:G p.(Gln296Arg) NC_000004.12:3492872:A:G p.(Gln296Arg) NC_000004.12:3492872:A:G Identity +NM_001172420.2:c.1798A>C NP_001165891.1:p.Ile600Leu NC_000006.12:52492272:A:C p.(Ile600Leu) NC_000006.12:52492272:A:C p.(Ile600Leu) NC_000006.12:52492272:A:C Identity +NM_000124.4:c.4238A>G NP_000115.1:p.Gln1413Arg NC_000010.11:49459058:T:C p.(Gln1413Arg) NC_000010.11:49459058:T:C p.(Gln1413Arg) NC_000010.11:49459058:T:C Identity +NM_005051.3:c.1543C>T NP_005042.1:p.Arg515Trp NC_000003.12:49099414:G:A p.(Arg515Trp) NC_000003.12:49099414:G:A p.(Arg515Trp) NC_000003.12:49099414:G:A Identity +LRG_132t1:c.34A>C LRG_132p1:p.Asn12His NC_000007.14:5529623:T:G ERR:Data provider error: ValueError: Transcript LRG_132t1 not found ERR:Data provider error: ValueError: Transcript LRG_132t1 not found ERR:AlignmentMapper(tx_ac=LRG_132t1, alt_ac=LRG_132t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_132t1, alt_ac=LRG_132t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_132t1 not found +NM_000618.5:c.292C>T NP_000609.1:p.Arg98Trp NC_000012.12:102419618:G:A p.(Arg98Trp) NC_000012.12:102419618:G:A p.(Arg98Trp) NC_000012.12:102419618:G:A Identity +NM_000038.6:c.5026A>G NP_000029.2:p.Arg1676Gly NC_000005.10:112840619:A:G p.(Arg1676Gly) NC_000005.10:112840619:A:G p.(Arg1676Gly) NC_000005.10:112840619:A:G Identity +NM_000038.6:c.8261G>A NP_000029.2:p.Ser2754Asn NC_000005.10:112843854:G:A p.(Ser2754Asn) NC_000005.10:112843854:G:A p.(Ser2754Asn) NC_000005.10:112843854:G:A Identity +NM_000179.3:c.1652G>A NP_000170.1:p.Gly551Asp NC_000002.12:47799634:G:A p.(Gly551Asp) NC_000002.12:47799634:G:A p.(Gly551Asp) NC_000002.12:47799634:G:A Identity +NM_000251.3:c.1744del NP_000242.1:p.Val582fs NC_000002.12:47471046:G: p.(Val582SerfsTer8) NC_000002.12:47471046:G: p.(Val582SerfsTer8) NC_000002.12:47471046:G: Analogous +NM_000249.4:c.945C>G NP_000240.1:p.His315Gln NC_000003.12:37020369:C:G p.(His315Gln) NC_000003.12:37020369:C:G p.(His315Gln) NC_000003.12:37020369:C:G Identity +NM_000546.6:c.800G>A NP_000537.3:p.Arg267Gln NC_000017.11:7673819:C:T p.(Arg267Gln) NC_000017.11:7673819:C:T p.(Arg267Gln) NC_000017.11:7673819:C:T Identity +NM_000546.6:c.847C>T NP_000537.3:p.Arg283Cys NC_000017.11:7673772:G:A p.(Arg283Cys) NC_000017.11:7673772:G:A p.(Arg283Cys) NC_000017.11:7673772:G:A Identity +NM_001164507.2:c.20078C>T NP_001157979.2:p.Thr6693Ile NC_000002.12:151548386:G:A p.(Thr6693Ile) NC_000002.12:151548386:G:A p.(Thr6693Ile) NC_000002.12:151548386:G:A Identity +NM_000179.3:c.1028C>T NP_000170.1:p.Pro343Leu NC_000002.12:47799010:C:T p.(Pro343Leu) NC_000002.12:47799010:C:T p.(Pro343Leu) NC_000002.12:47799010:C:T Identity +NM_000249.4:c.170A>C NP_000240.1:p.Lys57Thr NC_000003.12:36996671:A:C p.(Lys57Thr) NC_000003.12:36996671:A:C p.(Lys57Thr) NC_000003.12:36996671:A:C Identity +NM_001363813.1:c.203G>A NP_001350742.1:p.Arg68Gln NC_000017.11:65558417:C:T p.(Arg68Gln) NC_000017.11:65558417:C:T p.(Arg68Gln) NC_000017.11:65558417:C:T Identity +NM_001318520.2:c.3302G>T NP_001305449.1:p.Cys1101Phe NC_000018.10:70020729:C:A p.(Cys1101Phe) NC_000018.10:70020729:C:A p.(Cys1101Phe) NC_000018.10:70020729:C:A Identity +NM_000465.4:c.2282G>A NP_000456.2:p.Ser761Asn NC_000002.12:214728727:C:T p.(Ser761Asn) NC_000002.12:214728727:C:T p.(Ser761Asn) NC_000002.12:214728727:C:T Identity +NM_000546.6:c.704A>G NP_000537.3:p.Asn235Ser NC_000017.11:7674258:T:C p.(Asn235Ser) NC_000017.11:7674258:T:C p.(Asn235Ser) NC_000017.11:7674258:T:C Identity +NM_133629.3:c.412del NP_598332.1:p.His138fs NC_000017.11:35101355:GG:G p.(His138ThrfsTer2) NC_000017.11:35101355:GG:G p.(His138ThrfsTer2) NC_000017.11:35101355:G: Analogous +NM_004329.3:c.953A>G NP_004320.2:p.Tyr318Cys NC_000010.11:86919255:A:G p.(Tyr318Cys) NC_000010.11:86919255:A:G p.(Tyr318Cys) NC_000010.11:86919255:A:G Identity +LRG_308t1:c.3437A>G LRG_308p1:p.Gln1146Arg NC_000016.10:23603582:T:C ERR:Data provider error: ValueError: Transcript LRG_308t1 not found ERR:Data provider error: ValueError: Transcript LRG_308t1 not found ERR:AlignmentMapper(tx_ac=LRG_308t1, alt_ac=LRG_308t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_308t1, alt_ac=LRG_308t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_308t1 not found +NM_032043.3:c.2469G>T NP_114432.2:p.Arg823Ser NC_000017.11:61715973:C:A p.(Arg823Ser) NC_000017.11:61715973:C:A p.(Arg823Ser) NC_000017.11:61715973:C:A Identity +NM_020987.5:c.7225T>C NP_066267.2:p.Ser2409Pro NC_000010.11:60073655:A:G p.(Ser2409Pro) NC_000010.11:60073655:A:G p.(Ser2409Pro) NC_000010.11:60073655:A:G Identity +NM_001142649.2:c.613A>G NP_001136121.1:p.Thr205Ala NC_000011.10:22227553:A:G p.(Thr205Ala) NC_000011.10:22227553:A:G p.(Thr205Ala) NC_000011.10:22227553:A:G Identity +NM_018013.4:c.1382A>C NP_060483.3:p.His461Pro NC_000006.12:107634225:A:C p.(His461Pro) NC_000006.12:107634225:A:C p.(His461Pro) NC_000006.12:107634225:A:C Identity +NM_000465.4:c.1690C>T NP_000456.2:p.Gln564Ter NC_000002.12:214745841:G:A p.(Gln564Ter) NC_000002.12:214745841:G:A p.(Gln564Ter) NC_000002.12:214745841:G:A Identity +NM_000535.7:c.2012C>T NP_000526.2:p.Thr671Met NC_000007.14:5982985:G:A p.(Thr671Met) NC_000007.14:5982985:G:A p.(Thr671Met) NC_000007.14:5982985:G:A Identity +NM_000546.6:c.173C>G NP_000537.3:p.Pro58Arg NC_000017.11:7676195:G:C p.(Pro58Arg) NC_000017.11:7676195:G:C p.(Pro58Arg) NC_000017.11:7676195:G:C Identity +NM_005431.2:c.140A>G NP_005422.1:p.His47Arg NC_000007.14:152649344:T:C p.(His47Arg) NC_000007.14:152649344:T:C p.(His47Arg) NC_000007.14:152649344:T:C Identity +NM_144508.5:c.2369C>G NP_653091.3:p.Thr790Ser NC_000015.10:40622632:C:G p.(Thr790Ser) NC_000015.10:40622632:C:G p.(Thr790Ser) NC_000015.10:40622632:C:G Identity +NM_144508.5:c.89C>T NP_653091.3:p.Pro30Leu NC_000015.10:40606405:C:T p.(Pro30Leu) NC_000015.10:40606405:C:T p.(Pro30Leu) NC_000015.10:40606405:C:T Identity +NM_004933.3:c.109G>T NP_004924.1:p.Ala37Ser NC_000016.10:89179481:G:T p.(Ala37Ser) NC_000016.10:89179481:G:T p.(Ala37Ser) NC_000016.10:89179481:G:T Identity +NM_004933.3:c.788A>G NP_004924.1:p.Asp263Gly NC_000016.10:89187552:A:G p.(Asp263Gly) NC_000016.10:89187552:A:G p.(Asp263Gly) NC_000016.10:89187552:A:G Identity +NM_015965.7:c.170G>A NP_057049.5:p.Arg57His NC_000019.10:19526256:G:A p.(Arg57His) NC_000019.10:19526256:G:A p.(Arg57His) NC_000019.10:19526256:G:A Identity +NM_000540.3:c.103T>C NP_000531.2:p.Cys35Arg NC_000019.10:38440801:T:C p.(Cys35Arg) NC_000019.10:38440801:T:C p.(Cys35Arg) NC_000019.10:38440801:T:C Identity +NM_005732.4:c.280A>C NP_005723.2:p.Ile94Leu NC_000005.10:132575842:A:C p.(Ile94Leu) NC_000005.10:132575842:A:C p.(Ile94Leu) NC_000005.10:132575842:A:C Identity +NM_005732.4:c.671G>A NP_005723.2:p.Arg224His NC_000005.10:132579980:G:A p.(Arg224His) NC_000005.10:132579980:G:A p.(Arg224His) NC_000005.10:132579980:G:A Identity +NM_032043.3:c.2830C>G NP_114432.2:p.Gln944Glu NC_000017.11:61685910:G:C p.(Gln944Glu) NC_000017.11:61685910:G:C p.(Gln944Glu) NC_000017.11:61685910:G:C Identity +NM_004525.3:c.5293G>A NP_004516.2:p.Val1765Met NC_000002.12:169226522:C:T p.(Val1765Met) NC_000002.12:169226522:C:T p.(Val1765Met) NC_000002.12:169226522:C:T Identity +NM_000540.3:c.14210G>A NP_000531.2:p.Arg4737Gln NC_000019.10:38577954:G:A p.(Arg4737Gln) NC_000019.10:38577954:G:A p.(Arg4737Gln) NC_000019.10:38577954:G:A Identity +NM_000540.3:c.51_53del NP_000531.2:p.Asp17del NC_000019.10:38440747:GATGA:GA p.(Asp17del) NC_000019.10:38440747:GATGA:GA p.(Asp17del) NC_000019.10:38440749:TGA: Identity +NM_001029882.3:c.2547del NP_001025053.1:p.Ser850fs NC_000001.11:27549568:GG:G p.(Ser850ProfsTer82) NC_000001.11:27549568:GG:G p.(Ser850ProfsTer82) NC_000001.11:27549568:G: Analogous +NM_005732.4:c.1328T>C NP_005723.2:p.Ile443Thr NC_000005.10:132589712:T:C p.(Ile443Thr) NC_000005.10:132589712:T:C p.(Ile443Thr) NC_000005.10:132589712:T:C Identity +NM_024675.4:c.353T>C NP_078951.2:p.Ile118Thr NC_000016.10:23636192:A:G p.(Ile118Thr) NC_000016.10:23636192:A:G p.(Ile118Thr) NC_000016.10:23636192:A:G Identity +NM_001190818.2:c.2518G>A NP_001177747.1:p.Asp840Asn NC_000001.11:52373248:C:T p.(Asp840Asn) NC_000001.11:52373248:C:T p.(Asp840Asn) NC_000001.11:52373248:C:T Identity +NM_000445.5:c.13286C>T NP_000436.2:p.Thr4429Met NC_000008.11:143916615:G:A p.(Thr4429Met) NC_000008.11:143916615:G:A p.(Thr4429Met) NC_000008.11:143916615:G:A Identity +NM_001126131.2:c.3293A>C NP_001119603.1:p.Asn1098Thr NC_000015.10:89318729:T:G p.(Asn1098Thr) NC_000015.10:89318729:T:G p.(Asn1098Thr) NC_000015.10:89318729:T:G Identity +NM_004304.5:c.808T>C NP_004295.2:p.Phe270Leu NC_000002.12:29694993:A:G p.(Phe270Leu) NC_000002.12:29694993:A:G p.(Phe270Leu) NC_000002.12:29694993:A:G Identity +NM_000038.6:c.4919G>A NP_000029.2:p.Arg1640Gln NC_000005.10:112840512:G:A p.(Arg1640Gln) NC_000005.10:112840512:G:A p.(Arg1640Gln) NC_000005.10:112840512:G:A Identity +NM_001363734.1:c.2774A>G NP_001350663.1:p.Asn925Ser NC_000020.11:32435668:A:G p.(Asn925Ser) NC_000020.11:32435668:A:G p.(Asn925Ser) NC_000020.11:32435668:A:G Identity +NM_005045.4:c.5831T>G NP_005036.2:p.Phe1944Cys NC_000007.14:103553797:A:C p.(Phe1944Cys) NC_000007.14:103553797:A:C p.(Phe1944Cys) NC_000007.14:103553797:A:C Identity +NM_015180.6:c.12122G>A NP_055995.4:p.Arg4041His NC_000014.9:64097961:G:A p.(Arg4041His) NC_000014.9:64097961:G:A p.(Arg4041His) NC_000014.9:64097961:G:A Identity +NM_015180.6:c.4177C>T NP_055995.4:p.Arg1393Trp NC_000014.9:64003109:C:T p.(Arg1393Trp) NC_000014.9:64003109:C:T p.(Arg1393Trp) NC_000014.9:64003109:C:T Identity +NM_000356.4:c.1762G>C NP_000347.2:p.Ala588Pro NC_000005.10:150376180:G:C p.(Ala588Pro) NC_000005.10:150376180:G:C p.(Ala588Pro) NC_000005.10:150376180:G:C Identity +NM_015631.6:c.925G>T NP_056446.4:p.Ala309Ser NC_000010.11:95685599:C:A p.(Ala309Ser) NC_000010.11:95685599:C:A p.(Ala309Ser) NC_000010.11:95685599:C:A Identity +NM_001381943.1:c.164C>T NP_001368872.1:p.Ala55Val NC_000011.10:73978058:G:A p.(Ala55Val) NC_000011.10:73978058:G:A p.(Ala55Val) NC_000011.10:73978058:G:A Identity +NM_022095.4:c.2167T>G NP_071378.1:p.Phe723Val NC_000020.11:45959286:A:C p.(Phe723Val) NC_000020.11:45959286:A:C p.(Phe723Val) NC_000020.11:45959286:A:C Identity +NM_001195132.2:c.495G>C NP_001182061.1:p.Arg165Ser NC_000009.12:21968733:C:G p.(Arg165Ser) NC_000009.12:21968733:C:G p.(Arg165Ser) NC_000009.12:21968733:C:G Identity +NM_001256850.1:c.90272C>T NP_001243779.1:p.Pro30091Leu NC_000002.12:178546040:G:A p.(Pro30091Leu) NC_000002.12:178546040:G:A p.(Pro30091Leu) NC_000002.12:178546040:G:A Identity +NM_001204425.2:c.2003G>A NP_001191354.2:p.Arg668His NC_000013.11:102858386:G:A p.(Arg668His) NC_000013.11:102858386:G:A p.(Arg668His) NC_000013.11:102858386:G:A Identity +NM_000401.3:c.1222A>G NP_000392.3:p.Ser408Gly NC_000011.10:44130087:A:G p.(Ser408Gly) NC_000011.10:44130087:A:G p.(Ser408Gly) NC_000011.10:44130087:A:G Identity +NM_004119.3:c.844G>A NP_004110.2:p.Gly282Arg NC_000013.11:28049672:C:T p.(Gly282Arg) NC_000013.11:28049672:C:T p.(Gly282Arg) NC_000013.11:28049672:C:T Identity +NM_000426.4:c.6539A>T NP_000417.3:p.Asp2180Val NC_000006.12:129453096:A:T p.(Asp2180Val) NC_000006.12:129453096:A:T p.(Asp2180Val) NC_000006.12:129453096:A:T Identity +NM_006059.4:c.4376G>A NP_006050.3:p.Arg1459Gln NC_000009.12:131087620:G:A p.(Arg1459Gln) NC_000009.12:131087620:G:A p.(Arg1459Gln) NC_000009.12:131087620:G:A Identity +NM_000540.3:c.493G>A NP_000531.2:p.Gly165Arg NC_000019.10:38444216:G:A p.(Gly165Arg) NC_000019.10:38444216:G:A p.(Gly165Arg) NC_000019.10:38444216:G:A Identity +NM_000540.3:c.5938del NP_000531.2:p.Leu1980fs NC_000019.10:38490197:CC:C p.(Leu1980SerfsTer2) NC_000019.10:38490197:CC:C p.(Leu1980SerfsTer2) NC_000019.10:38490198:C: Analogous +NM_000540.3:c.677T>A NP_000531.2:p.Met226Lys NC_000019.10:38446516:T:A p.(Met226Lys) NC_000019.10:38446516:T:A p.(Met226Lys) NC_000019.10:38446516:T:A Identity +NM_001014431.2:c.1373T>C NP_001014431.1:p.Met458Thr NC_000014.9:104770410:A:G p.(Met458Thr) NC_000014.9:104770410:A:G p.(Met458Thr) NC_000014.9:104770410:A:G Identity +NM_002253.4:c.895C>T NP_002244.1:p.Arg299Trp NC_000004.12:55113384:G:A p.(Arg299Trp) NC_000004.12:55113384:G:A p.(Arg299Trp) NC_000004.12:55113384:G:A Identity +NM_003482.4:c.11120G>A NP_003473.3:p.Arg3707Gln NC_000012.12:49033584:C:T p.(Arg3707Gln) NC_000012.12:49033584:C:T p.(Arg3707Gln) NC_000012.12:49033584:C:T Identity +NM_000545.8:c.293C>T NP_000536.6:p.Ala98Val NC_000012.12:120979060:C:T p.(Ala98Val) NC_000012.12:120979060:C:T p.(Ala98Val) NC_000012.12:120979060:C:T Identity +NM_016013.4:c.941C>G NP_057097.2:p.Ala314Gly NC_000015.10:41387486:G:C p.(Ala314Gly) NC_000015.10:41387486:G:C p.(Ala314Gly) NC_000015.10:41387486:G:C Identity +NM_001164507.2:c.3412A>G NP_001157979.2:p.Asn1138Asp NC_000002.12:151678030:T:C p.(Asn1138Asp) NC_000002.12:151678030:T:C p.(Asn1138Asp) NC_000002.12:151678030:T:C Identity +NM_170606.3:c.7259T>G NP_733751.2:p.Leu2420Arg NC_000007.14:152180016:A:C p.(Leu2420Arg) NC_000007.14:152180016:A:C p.(Leu2420Arg) NC_000007.14:152180016:A:C Identity +NM_024408.4:c.7075C>G NP_077719.2:p.Pro2359Ala NC_000001.11:119915646:G:C p.(Pro2359Ala) NC_000001.11:119915646:G:C p.(Pro2359Ala) NC_000001.11:119915646:G:C Identity +NM_152424.4:c.1811A>G NP_689637.3:p.Tyr604Cys NC_000023.11:64191475:T:C p.(Tyr604Cys) NC_000023.11:64191475:T:C p.(Tyr604Cys) NC_000023.11:64191475:T:C Identity +NM_000535.7:c.598G>A NP_000526.2:p.Val200Ile NC_000007.14:5999214:C:T p.(Val200Ile) NC_000007.14:5999214:C:T p.(Val200Ile) NC_000007.14:5999214:C:T Identity +NM_004260.4:c.3337G>C NP_004251.4:p.Gly1113Arg NC_000008.11:144511966:C:G p.(Gly1113Arg) NC_000008.11:144511966:C:G p.(Gly1113Arg) NC_000008.11:144511966:C:G Identity +NM_001135659.3:c.790C>A NP_001129131.1:p.Gln264Lys NC_000002.12:51026451:G:T p.(Gln264Lys) NC_000002.12:51026451:G:T p.(Gln264Lys) NC_000002.12:51026451:G:T Identity +NM_001144881.2:c.2236C>T NP_001138353.1:p.Pro746Ser NC_000012.12:42460068:G:A p.(Pro746Ser) NC_000012.12:42460068:G:A p.(Pro746Ser) NC_000012.12:42460068:G:A Identity +NM_005045.4:c.6343G>A NP_005036.2:p.Gly2115Ser NC_000007.14:103545303:C:T p.(Gly2115Ser) NC_000007.14:103545303:C:T p.(Gly2115Ser) NC_000007.14:103545303:C:T Identity +NM_015083.4:c.3569C>G NP_055898.1:p.Pro1190Arg NC_000017.11:39526124:C:G p.(Pro1190Arg) NC_000017.11:39526124:C:G p.(Pro1190Arg) NC_000017.11:39526124:C:G Identity +NM_001304815.2:c.6037T>A NP_001291744.1:p.Ser2013Thr NC_000019.10:42292699:T:A p.(Ser2013Thr) NC_000019.10:42292699:T:A p.(Ser2013Thr) NC_000019.10:42292699:T:A Identity +NM_001297605.2:c.521G>A NP_001284534.1:p.Gly174Glu NC_000001.11:2560683:G:A p.(Gly174Glu) NC_000001.11:2560683:G:A p.(Gly174Glu) NC_000001.11:2560683:G:A Identity +NM_001365536.1:c.4043A>G NP_001352465.1:p.Tyr1348Cys NC_000002.12:166228853:T:C p.(Tyr1348Cys) NC_000002.12:166228853:T:C p.(Tyr1348Cys) NC_000002.12:166228853:T:C Identity +NM_033071.5:c.10619G>A NP_149062.2:p.Arg3540His NC_000006.12:152358382:C:T p.(Arg3540His) NC_000006.12:152358382:C:T p.(Arg3540His) NC_000006.12:152358382:C:T Identity +NM_001195573.1:c.4795C>T NP_001182502.1:p.Arg1599Trp NC_000014.9:95096124:G:A p.(Arg1599Trp) NC_000014.9:95096124:G:A p.(Arg1599Trp) NC_000014.9:95096124:G:A Identity +NM_001346897.2:c.1889G>A NP_001333826.1:p.Arg630Gln NC_000007.14:55173086:G:A p.(Arg630Gln) NC_000007.14:55173086:G:A p.(Arg630Gln) NC_000007.14:55173086:G:A Identity +NM_001005862.3:c.50G>A NP_001005862.1:p.Arg17His NC_000017.11:39707055:G:A p.(Arg17His) NC_000017.11:39707055:G:A p.(Arg17His) NC_000017.11:39707055:G:A Identity +NM_000122.2:c.307A>G NP_000113.1:p.Ile103Val NC_000002.12:127292773:T:C p.(Ile103Val) NC_000002.12:127292773:T:C p.(Ile103Val) NC_000002.12:127292773:T:C Identity +NM_000038.6:c.7625A>G NP_000029.2:p.Asn2542Ser NC_000005.10:112843218:A:G p.(Asn2542Ser) NC_000005.10:112843218:A:G p.(Asn2542Ser) NC_000005.10:112843218:A:G Identity +NM_001040142.2:c.56G>A NP_001035232.1:p.Arg19Lys NC_000002.12:165295878:G:A p.(Arg19Lys) NC_000002.12:165295878:G:A p.(Arg19Lys) NC_000002.12:165295878:G:A Identity +NM_001174098.2:c.715G>A NP_001167569.1:p.Val239Ile NC_000010.11:71356184:G:A p.(Val239Ile) NC_000010.11:71356184:G:A p.(Val239Ile) NC_000010.11:71356184:G:A Identity +NM_033071.5:c.12229G>C NP_149062.2:p.Asp4077His NC_000006.12:152336926:C:G p.(Asp4077His) NC_000006.12:152336926:C:G p.(Asp4077His) NC_000006.12:152336926:C:G Identity +NM_015180.6:c.16522T>A NP_055995.4:p.Ser5508Thr NC_000014.9:64165326:T:A p.(Ser5508Thr) NC_000014.9:64165326:T:A p.(Ser5508Thr) NC_000014.9:64165326:T:A Identity +NM_001286658.2:c.3593A>G NP_001273587.1:p.Asn1198Ser NC_000013.11:75288979:T:C p.(Asn1198Ser) NC_000013.11:75288979:T:C p.(Asn1198Ser) NC_000013.11:75288979:T:C Identity +NM_001204425.2:c.4600G>C NP_001191354.2:p.Gly1534Arg NC_000013.11:102875579:G:C p.(Gly1534Arg) NC_000013.11:102875579:G:C p.(Gly1534Arg) NC_000013.11:102875579:G:C Identity +NM_000135.4:c.2567T>C NP_000126.2:p.Leu856Ser NC_000016.10:89767174:A:G p.(Leu856Ser) NC_000016.10:89767174:A:G p.(Leu856Ser) NC_000016.10:89767174:A:G Identity +NM_000535.7:c.1420G>T NP_000526.2:p.Ala474Ser NC_000007.14:5987344:C:A p.(Ala474Ser) NC_000007.14:5987344:C:A p.(Ala474Ser) NC_000007.14:5987344:C:A Identity +NM_000142.5:c.1349C>T NP_000133.1:p.Thr450Met NC_000004.12:1804905:C:T p.(Thr450Met) NC_000004.12:1804905:C:T p.(Thr450Met) NC_000004.12:1804905:C:T Identity +NM_001322194.2:c.3323A>G NP_001309123.1:p.Asn1108Ser NC_000009.12:5126714:A:G p.(Asn1108Ser) NC_000009.12:5126714:A:G p.(Asn1108Ser) NC_000009.12:5126714:A:G Identity +NM_001018056.3:c.1643A>G NP_001018066.1:p.Lys548Arg NC_000009.12:2646491:A:G p.(Lys548Arg) NC_000009.12:2646491:A:G p.(Lys548Arg) NC_000009.12:2646491:A:G Identity +NM_017890.5:c.10553A>G NP_060360.3:p.Asp3518Gly NC_000008.11:99853866:A:G p.(Asp3518Gly) NC_000008.11:99853866:A:G p.(Asp3518Gly) NC_000008.11:99853866:A:G Identity +NM_017890.5:c.5878T>G NP_060360.3:p.Ser1960Ala NC_000008.11:99642392:T:G p.(Ser1960Ala) NC_000008.11:99642392:T:G p.(Ser1960Ala) NC_000008.11:99642392:T:G Identity +NM_022095.4:c.826G>A NP_071378.1:p.Ala276Thr NC_000020.11:45967622:C:T p.(Ala276Thr) NC_000020.11:45967622:C:T p.(Ala276Thr) NC_000020.11:45967622:C:T Identity +NM_020312.4:c.625C>G NP_064708.1:p.Leu209Val NC_000016.10:57458263:C:G p.(Leu209Val) NC_000016.10:57458263:C:G p.(Leu209Val) NC_000016.10:57458263:C:G Identity +NM_001303.4:c.290A>G NP_001294.2:p.Tyr97Cys NC_000017.11:14076846:A:G p.(Tyr97Cys) NC_000017.11:14076846:A:G p.(Tyr97Cys) NC_000017.11:14076846:A:G Identity +NM_001372031.1:c.626A>G NP_001358960.1:p.Gln209Arg NC_000011.10:112028910:A:G p.(Gln209Arg) NC_000011.10:112028910:A:G p.(Gln209Arg) NC_000011.10:112028910:A:G Identity +NM_203447.4:c.187G>A NP_982272.2:p.Asp63Asn NC_000009.12:286490:G:A p.(Asp63Asn) NC_000009.12:286490:G:A p.(Asp63Asn) NC_000009.12:286490:G:A Identity +NM_170606.3:c.11942A>C NP_733751.2:p.Asn3981Thr NC_000007.14:152155927:T:G p.(Asn3981Thr) NC_000007.14:152155927:T:G p.(Asn3981Thr) NC_000007.14:152155927:T:G Identity +NM_207346.3:c.1447C>G NP_997229.2:p.Pro483Ala NC_000017.11:75524277:C:G p.(Pro483Ala) NC_000017.11:75524277:C:G p.(Pro483Ala) NC_000017.11:75524277:C:G Identity +NM_001378120.1:c.4009A>G NP_001365049.1:p.Ile1337Val NC_000002.12:148489640:A:G p.(Ile1337Val) NC_000002.12:148489640:A:G p.(Ile1337Val) NC_000002.12:148489640:A:G Identity +NM_024675.4:c.1054G>C NP_078951.2:p.Glu352Gln NC_000016.10:23635491:C:G p.(Glu352Gln) NC_000016.10:23635491:C:G p.(Glu352Gln) NC_000016.10:23635491:C:G Identity +NM_001024688.3:c.307G>C NP_001019859.1:p.Glu103Gln NC_000008.11:89978250:C:G p.(Glu103Gln) NC_000008.11:89978250:C:G p.(Glu103Gln) NC_000008.11:89978250:C:G Identity +NM_024408.4:c.4820G>A NP_077719.2:p.Arg1607His NC_000001.11:119923675:C:T p.(Arg1607His) NC_000001.11:119923675:C:T p.(Arg1607His) NC_000001.11:119923675:C:T Identity +NM_001315529.2:c.6361T>C NP_001302458.1:p.Trp2121Arg NC_000021.9:46416632:T:C p.(Trp2121Arg) NC_000021.9:46416632:T:C p.(Trp2121Arg) NC_000021.9:46416632:T:C Identity +NM_001321136.2:c.881C>T NP_001308065.1:p.Pro294Leu NC_000015.10:77032930:C:T p.(Pro294Leu) NC_000015.10:77032930:C:T p.(Pro294Leu) NC_000015.10:77032930:C:T Identity +NM_001349370.3:c.4840T>G NP_001336299.1:p.Ser1614Ala NC_000003.12:47101500:A:C p.(Ser1614Ala) NC_000003.12:47101500:A:C p.(Ser1614Ala) NC_000003.12:47101500:A:C Identity +NM_000540.3:c.7523G>A NP_000531.2:p.Arg2508His NC_000019.10:38500898:G:A p.(Arg2508His) NC_000019.10:38500898:G:A p.(Arg2508His) NC_000019.10:38500898:G:A Identity +NM_001321049.2:c.496G>A NP_001307978.1:p.Gly166Ser NC_000002.12:189805831:G:A p.(Gly166Ser) NC_000002.12:189805831:G:A p.(Gly166Ser) NC_000002.12:189805831:G:A Identity +NM_004304.5:c.1943C>T NP_004295.2:p.Thr648Ile NC_000002.12:29275196:G:A p.(Thr648Ile) NC_000002.12:29275196:G:A p.(Thr648Ile) NC_000002.12:29275196:G:A Identity +NM_000038.6:c.8467A>C NP_000029.2:p.Thr2823Pro NC_000005.10:112844060:A:C p.(Thr2823Pro) NC_000005.10:112844060:A:C p.(Thr2823Pro) NC_000005.10:112844060:A:C Identity +NM_004329.3:c.1216C>T NP_004320.2:p.Arg406Cys NC_000010.11:86921568:C:T p.(Arg406Cys) NC_000010.11:86921568:C:T p.(Arg406Cys) NC_000010.11:86921568:C:T Identity +NM_001126114.3:c.1021T>G NP_001119586.1:p.Cys341Gly NC_000017.11:7673311:A:C p.(Cys341Gly) NC_000017.11:7673311:A:C p.(Cys341Gly) NC_000017.11:7673311:A:C Identity +NM_000368.5:c.1282_1283delinsCT NP_000359.1:p.Ala428Leu NC_000009.12:132907350:GC:AG p.(Ala428Leu) NC_000009.12:132907350:GC:AG p.(Ala428Leu) NC_000009.12:132907350:GC:AG Identity +NM_000553.6:c.2983G>A NP_000544.2:p.Ala995Thr NC_000008.11:31141444:G:A p.(Ala995Thr) NC_000008.11:31141444:G:A p.(Ala995Thr) NC_000008.11:31141444:G:A Identity +NM_000553.6:c.587G>A NP_000544.2:p.Arg196His NC_000008.11:31067114:G:A p.(Arg196His) NC_000008.11:31067114:G:A p.(Arg196His) NC_000008.11:31067114:G:A Identity +NM_000455.5:c.103A>G NP_000446.1:p.Ile35Val NC_000019.10:1207015:A:G p.(Ile35Val) NC_000019.10:1207015:A:G p.(Ile35Val) NC_000019.10:1207015:A:G Identity +NM_003337.4:c.23G>C NP_003328.1:p.Arg8Thr NC_000005.10:134371617:G:C p.(Arg8Thr) NC_000005.10:134371617:G:C p.(Arg8Thr) NC_000005.10:134371617:G:C Identity +NM_000051.4:c.2941C>T NP_000042.3:p.Arg981Cys NC_000011.10:108271269:C:T p.(Arg981Cys) NC_000011.10:108271269:C:T p.(Arg981Cys) NC_000011.10:108271269:C:T Identity +NM_000038.6:c.3197G>A NP_000029.2:p.Arg1066Lys NC_000005.10:112838790:G:A p.(Arg1066Lys) NC_000005.10:112838790:G:A p.(Arg1066Lys) NC_000005.10:112838790:G:A Identity +NM_000465.4:c.76A>G NP_000456.2:p.Met26Val NC_000002.12:214809493:T:C p.(Met26Val) NC_000002.12:214809493:T:C p.(Met26Val) NC_000002.12:214809493:T:C Identity +NM_000051.4:c.4961T>C NP_000042.3:p.Leu1654Ser NC_000011.10:108297337:T:C p.(Leu1654Ser) NC_000011.10:108297337:T:C p.(Leu1654Ser) NC_000011.10:108297337:T:C Identity +NM_000038.6:c.6145A>G NP_000029.2:p.Lys2049Glu NC_000005.10:112841738:A:G p.(Lys2049Glu) NC_000005.10:112841738:A:G p.(Lys2049Glu) NC_000005.10:112841738:A:G Identity +NM_001406786.1:c.1666G>T NP_001393715.1:p.Asp556Tyr NC_000010.11:43120164:G:T p.(Asp556Tyr) NC_000010.11:43120164:G:T p.(Asp556Tyr) NC_000010.11:43120164:G:T Identity +NM_000465.4:c.1738G>A NP_000456.2:p.Glu580Lys NC_000002.12:214745793:C:T p.(Glu580Lys) NC_000002.12:214745793:C:T p.(Glu580Lys) NC_000002.12:214745793:C:T Identity +NM_000059.4:c.9770_9773del NP_000050.3:p.Lys3257fs NC_000013.11:32398279:AGAAAGA:AGA p.(Lys3257ArgfsTer17) NC_000013.11:32398279:AGAAAGA:AGA p.(Lys3257ArgfsTer17) NC_000013.11:32398282:AAGA: Analogous +NM_000414.4:c.1547T>C NP_000405.1:p.Ile516Thr NC_000005.10:119525258:T:C p.(Ile516Thr) NC_000005.10:119525258:T:C p.(Ile516Thr) NC_000005.10:119525258:T:C Identity +NM_001145853.1:c.2158A>G NP_001139325.1:p.Ile720Val NC_000004.12:6301952:A:G p.(Ile720Val) NC_000004.12:6301952:A:G p.(Ile720Val) NC_000004.12:6301952:A:G Identity +NM_024529.5:c.412C>A NP_078805.3:p.Pro138Thr NC_000001.11:193135577:C:A p.(Pro138Thr) NC_000001.11:193135577:C:A p.(Pro138Thr) NC_000001.11:193135577:C:A Identity +NM_001079846.1:c.964G>C NP_001073315.1:p.Val322Leu NC_000016.10:3810613:C:G p.(Val322Leu) NC_000016.10:3810613:C:G p.(Val322Leu) NC_000016.10:3810613:C:G Identity +NM_000455.5:c.1202G>A NP_000446.1:p.Ser401Asn NC_000019.10:1226546:G:A p.(Ser401Asn) NC_000019.10:1226546:G:A p.(Ser401Asn) NC_000019.10:1226546:G:A Identity +NM_001363857.1:c.160A>C NP_001350786.1:p.Ile54Leu NC_000003.12:139346987:A:C p.(Ile54Leu) NC_000003.12:139346987:A:C p.(Ile54Leu) NC_000003.12:139346987:A:C Identity +NM_001278645.2:c.268C>T NP_001265574.1:p.Pro90Ser NC_000008.11:124549787:C:T p.(Pro90Ser) NC_000008.11:124549787:C:T p.(Pro90Ser) NC_000008.11:124549787:C:T Identity +NM_001005862.3:c.3599G>T NP_001005862.1:p.Arg1200Leu NC_000017.11:39727964:G:T p.(Arg1200Leu) NC_000017.11:39727964:G:T p.(Arg1200Leu) NC_000017.11:39727964:G:T Identity +NM_005732.4:c.3880G>A NP_005723.2:p.Asp1294Asn NC_000005.10:132642304:G:A p.(Asp1294Asn) NC_000005.10:132642304:G:A p.(Asp1294Asn) NC_000005.10:132642304:G:A Identity +NM_032790.4:c.734C>T NP_116179.2:p.Pro245Leu NC_000012.12:121641470:C:T p.(Pro245Leu) NW_018654719.1:47241:C:T p.(Pro245Leu) NC_000012.12:47241:A:T Identity +NM_005857.5:c.401del NP_005848.2:p.Ser134fs NC_000001.11:40268461:G: p.(Ser134MetfsTer3) NC_000001.11:40268461:G: p.(Ser134MetfsTer3) NC_000001.11:40268461:G: Analogous +NM_000122.2:c.1996G>A NP_000113.1:p.Asp666Asn NC_000002.12:127261295:C:T p.(Asp666Asn) NC_000002.12:127261295:C:T p.(Asp666Asn) NC_000002.12:127261295:C:T Identity +NM_032043.3:c.1619A>T NP_114432.2:p.Gln540Leu NC_000017.11:61784278:T:A p.(Gln540Leu) NC_000017.11:61784278:T:A p.(Gln540Leu) NC_000017.11:61784278:T:A Identity +NM_005732.4:c.1722dup NP_005723.2:p.Gln575fs NC_000005.10:132591957:AAAAAA:AAAAAAA p.(Gln575ThrfsTer3) NC_000005.10:132591957:AAAAAA:AAAAAAA p.(Gln575ThrfsTer3) ERR:SPDI Analogous +NM_001407571.1:c.170G>T NP_001394500.1:p.Ser57Ile NC_000017.11:43104182:C:A p.(Ser57Ile) NC_000017.11:43104182:C:A p.(Ser57Ile) NC_000017.11:43104182:C:A Identity +NM_001204425.2:c.2702C>T NP_001191354.2:p.Ala901Val NC_000013.11:102862488:C:T p.(Ala901Val) NC_000013.11:102862488:C:T p.(Ala901Val) NC_000013.11:102862488:C:T Identity +NM_000401.3:c.1859C>T NP_000392.3:p.Thr620Met NC_000011.10:44232449:C:T p.(Thr620Met) NC_000011.10:44232449:C:T p.(Thr620Met) NC_000011.10:44232449:C:T Identity +NM_021922.3:c.1095A>C NP_068741.1:p.Arg365Ser NC_000006.12:35458421:A:C p.(Arg365Ser) NC_000006.12:35458421:A:C p.(Arg365Ser) NC_000006.12:35458421:A:C Identity +NM_000465.4:c.1519G>A NP_000456.2:p.Val507Met NC_000002.12:214767530:C:T p.(Val507Met) NC_000002.12:214767530:C:T p.(Val507Met) NC_000002.12:214767530:C:T Identity +NM_000455.5:c.376T>C NP_000446.1:p.Tyr126His NC_000019.10:1219324:T:C p.(Tyr126His) NC_000019.10:1219324:T:C p.(Tyr126His) NC_000019.10:1219324:T:C Identity +NM_000051.4:c.5750G>C NP_000042.3:p.Arg1917Thr NC_000011.10:108307971:G:C p.(Arg1917Thr) NC_000011.10:108307971:G:C p.(Arg1917Thr) NC_000011.10:108307971:G:C Identity +NM_000249.4:c.743A>G NP_000240.1:p.Asn248Ser NC_000003.12:37014496:A:G p.(Asn248Ser) NC_000003.12:37014496:A:G p.(Asn248Ser) NC_000003.12:37014496:A:G Identity +NM_000135.4:c.2859C>A NP_000126.2:p.Asp953Glu NC_000016.10:89758698:G:T p.(Asp953Glu) NC_000016.10:89758698:G:T p.(Asp953Glu) NC_000016.10:89758698:G:T Identity +NM_000136.3:c.584A>T NP_000127.2:p.Asp195Val NC_000009.12:95150024:T:A p.(Asp195Val) NC_000009.12:95150024:T:A p.(Asp195Val) NC_000009.12:95150024:T:A Identity +NM_023067.4:c.1045C>G NP_075555.1:p.Arg349Gly NC_000003.12:138945677:G:C p.(Arg349Gly) NC_000003.12:138945677:G:C p.(Arg349Gly) NC_000003.12:138945677:G:C Identity +NM_000545.8:c.73G>A NP_000536.6:p.Ala25Thr NC_000012.12:120978840:G:A p.(Ala25Thr) NC_000012.12:120978840:G:A p.(Ala25Thr) NC_000012.12:120978840:G:A Identity +NM_002185.5:c.772A>G NP_002176.2:p.Ile258Val NC_000005.10:35874513:A:G p.(Ile258Val) NC_000005.10:35874513:A:G p.(Ile258Val) NC_000005.10:35874513:A:G Identity +NM_000215.4:c.1830G>A NP_000206.2:p.Met610Ile NC_000019.10:17836007:C:T p.(Met610Ile) NC_000019.10:17836007:C:T p.(Met610Ile) NC_000019.10:17836007:C:T Identity +NM_002253.4:c.406G>A NP_002244.1:p.Val136Met NC_000004.12:55115363:C:T p.(Val136Met) NC_000004.12:55115363:C:T p.(Val136Met) NC_000004.12:55115363:C:T Identity +NM_000038.6:c.2780C>G NP_000029.2:p.Ala927Gly NC_000005.10:112838373:C:G p.(Ala927Gly) NC_000005.10:112838373:C:G p.(Ala927Gly) NC_000005.10:112838373:C:G Identity +NM_000455.5:c.566C>T NP_000446.1:p.Thr189Ile NC_000019.10:1220473:C:T p.(Thr189Ile) NC_000019.10:1220473:C:T p.(Thr189Ile) NC_000019.10:1220473:C:T Identity +NM_001110792.2:c.1169C>T NP_001104262.1:p.Ala390Val NC_000023.11:154030694:G:A p.(Ala390Val) NC_000023.11:154030694:G:A p.(Ala390Val) NC_000023.11:154030694:G:A Identity +NM_001110792.2:c.1200del NP_001104262.1:p.Pro401fs NC_000023.11:154030663:T: p.(Pro401LeufsTer20) NC_000023.11:154030663:T: p.(Pro401LeufsTer20) NC_000023.11:154030663:T: Analogous +NM_001110792.2:c.338C>A NP_001104262.1:p.Pro113His NC_000023.11:154032281:G:T p.(Pro113His) NC_000023.11:154032281:G:T p.(Pro113His) NC_000023.11:154032281:G:T Identity +NM_001291415.2:c.2888G>C NP_001278344.1:p.Ser963Thr NC_000023.11:45076725:G:C p.(Ser963Thr) NC_000023.11:45076725:G:C p.(Ser963Thr) NC_000023.11:45076725:G:C Identity +NM_000245.4:c.510C>G NP_000236.2:p.Ser170Arg NC_000007.14:116699593:C:G p.(Ser170Arg) NC_000007.14:116699593:C:G p.(Ser170Arg) NC_000007.14:116699593:C:G Identity +NM_170606.3:c.6667G>A NP_733751.2:p.Ala2223Thr NC_000007.14:152181192:C:T p.(Ala2223Thr) NC_000007.14:152181192:C:T p.(Ala2223Thr) NC_000007.14:152181192:C:T Identity +NM_000059.4:c.6997G>A NP_000050.3:p.Val2333Ile NC_000013.11:32346885:G:A p.(Val2333Ile) NC_000013.11:32346885:G:A p.(Val2333Ile) NC_000013.11:32346885:G:A Identity +NM_000535.7:c.961G>A NP_000526.2:p.Val321Ile NC_000007.14:5991999:C:T p.(Val321Ile) NC_000007.14:5991999:C:T p.(Val321Ile) NC_000007.14:5991999:C:T Identity +NM_024675.4:c.3426dup NP_078951.2:p.Leu1143fs NC_000016.10:23603593:T:TT p.(Leu1143ThrfsTer14) NC_000016.10:23603593:T:TT p.(Leu1143ThrfsTer14) ERR:SPDI Analogous +NM_001129840.2:c.1204G>A NP_001123312.1:p.Gly402Ser NC_000012.12:2504525:G:A p.(Gly402Ser) NC_000012.12:2504525:G:A p.(Gly402Ser) NC_000012.12:2504525:G:A Identity +NM_170606.3:c.9245C>T NP_733751.2:p.Pro3082Leu NC_000007.14:152176207:G:A p.(Pro3082Leu) NC_000007.14:152176207:G:A p.(Pro3082Leu) NC_000007.14:152176207:G:A Identity +NM_002878.4:c.166G>C NP_002869.3:p.Val56Leu NC_000017.11:35118597:C:G p.(Val56Leu) NC_000017.11:35118597:C:G p.(Val56Leu) NC_000017.11:35118597:C:G Identity +NM_000038.6:c.646C>G NP_000029.2:p.Arg216Gly NC_000005.10:112792445:C:G p.(Arg216Gly) NC_000005.10:112792445:C:G p.(Arg216Gly) NC_000005.10:112792445:C:G Identity +NM_001048171.2:c.367G>A NP_001041636.2:p.Gly123Arg NC_000001.11:45333107:C:T p.(Gly123Arg) NC_000001.11:45333107:C:T p.(Gly123Arg) NC_000001.11:45333107:C:T Identity +NM_000314.8:c.48T>A NP_000305.3:p.Tyr16Ter NC_000010.11:87864516:T:A p.(Tyr16Ter) NC_000010.11:87864516:T:A p.(Tyr16Ter) NC_000010.11:87864516:T:A Identity +NM_001024688.3:c.1243A>G NP_001019859.1:p.Thr415Ala NC_000008.11:89953599:T:C p.(Thr415Ala) NC_000008.11:89953599:T:C p.(Thr415Ala) NC_000008.11:89953599:T:C Identity +NM_000462.5:c.1677dup NP_000453.2:p.Glu560Ter NC_000015.10:25360467:AAA:AAAA p.(Glu560Ter) NC_000015.10:25360467:AAA:AAAA p.(Glu560Ter) ERR:SPDI Identity +NM_000462.5:c.2439_2442del NP_000453.2:p.Asp813fs NC_000015.10:25340149:TCTGTCTGT:TCTGT p.(Asp813GlufsTer7) NC_000015.10:25340149:TCTGTCTGT:TCTGT p.(Asp813GlufsTer7) NC_000015.10:25340149:TCTG: Analogous +NM_000059.4:c.8262T>G NP_000050.3:p.His2754Gln NC_000013.11:32363463:T:G p.(His2754Gln) NC_000013.11:32363463:T:G p.(His2754Gln) NC_000013.11:32363463:T:G Identity +NM_001200001.2:c.3143G>A NP_001186930.1:p.Arg1048His NC_000001.11:119940594:C:T p.(Arg1048His) NC_000001.11:119940594:C:T p.(Arg1048His) NC_000001.11:119940594:C:T Identity +NM_000051.4:c.936A>C NP_000042.3:p.Leu312Phe NC_000011.10:108246997:A:C p.(Leu312Phe) NC_000011.10:108246997:A:C p.(Leu312Phe) NC_000011.10:108246997:A:C Identity +NM_000038.6:c.6386C>T NP_000029.2:p.Ser2129Leu NC_000005.10:112841979:C:T p.(Ser2129Leu) NC_000005.10:112841979:C:T p.(Ser2129Leu) NC_000005.10:112841979:C:T Identity +NM_000051.4:c.1703G>A NP_000042.3:p.Arg568Lys NC_000011.10:108251931:G:A p.(Arg568Lys) NC_000011.10:108251931:G:A p.(Arg568Lys) NC_000011.10:108251931:G:A Identity +NM_000486.6:c.647C>T NP_000477.1:p.Ser216Phe NC_000012.12:49955438:C:T p.(Ser216Phe) NC_000012.12:49955438:C:T p.(Ser216Phe) NC_000012.12:49955438:C:T Identity +NM_000314.8:c.968dup NP_000305.3:p.Asn323fs NC_000010.11:87961054:AAAAAA:AAAAAAA p.(Asn323LysfsTer2) NC_000010.11:87961054:AAAAAA:AAAAAAA p.(Asn323LysfsTer2) ERR:SPDI Analogous +NM_000321.3:c.2260G>C NP_000312.2:p.Val754Leu NC_000013.11:48465045:G:C p.(Val754Leu) NC_000013.11:48465045:G:C p.(Val754Leu) NC_000013.11:48465045:G:C Identity +NM_004260.4:c.1697T>C NP_004251.4:p.Leu566Pro NC_000008.11:144514448:A:G p.(Leu566Pro) NC_000008.11:144514448:A:G p.(Leu566Pro) NC_000008.11:144514448:A:G Identity +NM_001349370.3:c.2581T>C NP_001336299.1:p.Ser861Pro NC_000003.12:47121922:A:G p.(Ser861Pro) NC_000003.12:47121922:A:G p.(Ser861Pro) NC_000003.12:47121922:A:G Identity +NM_007300.4:c.3596C>T NP_009231.2:p.Ala1199Val NC_000017.11:43091934:G:A p.(Ala1199Val) NC_000017.11:43091934:G:A p.(Ala1199Val) NC_000017.11:43091934:G:A Identity +NM_032043.3:c.2542C>A NP_114432.2:p.Arg848Ser NC_000017.11:61693462:G:T p.(Arg848Ser) NC_000017.11:61693462:G:T p.(Arg848Ser) NC_000017.11:61693462:G:T Identity +NM_005732.4:c.1495A>G NP_005723.2:p.Thr499Ala NC_000005.10:132591265:A:G p.(Thr499Ala) NC_000005.10:132591265:A:G p.(Thr499Ala) NC_000005.10:132591265:A:G Identity +NM_000251.3:c.265G>C NP_000242.1:p.Val89Leu NC_000002.12:47408453:G:C p.(Val89Leu) NC_000002.12:47408453:G:C p.(Val89Leu) NC_000002.12:47408453:G:C Identity +NM_001270507.2:c.484C>T NP_001257436.1:p.Arg162Trp NC_000006.12:137875032:C:T p.(Arg162Trp) NC_000006.12:137875032:C:T p.(Arg162Trp) NC_000006.12:137875032:C:T Identity +NM_000548.5:c.2348C>T NP_000539.2:p.Thr783Ile NC_000016.10:2072975:C:T p.(Thr783Ile) NC_000016.10:2072975:C:T p.(Thr783Ile) NC_000016.10:2072975:C:T Identity +NM_001354726.2:c.293C>G NP_001341655.1:p.Ser98Cys NC_000003.12:14164840:G:C p.(Ser98Cys) NC_000003.12:14164840:G:C p.(Ser98Cys) NC_000003.12:14164840:G:C Identity +NM_000535.7:c.2438G>T NP_000526.2:p.Arg813Leu NC_000007.14:5977594:C:A p.(Arg813Leu) NC_000007.14:5977594:C:A p.(Arg813Leu) NC_000007.14:5977594:C:A Identity +NM_032043.3:c.2902A>G NP_114432.2:p.Lys968Glu NC_000017.11:61685838:T:C p.(Lys968Glu) NC_000017.11:61685838:T:C p.(Lys968Glu) NC_000017.11:61685838:T:C Identity +NM_000321.3:c.173C>T NP_000312.2:p.Thr58Ile NC_000013.11:48307314:C:T p.(Thr58Ile) NC_000013.11:48307314:C:T p.(Thr58Ile) NC_000013.11:48307314:C:T Identity +NM_001406763.1:c.1573C>T NP_001393692.1:p.Arg525Trp NC_000010.11:43112148:C:T p.(Arg525Trp) NC_000010.11:43112148:C:T p.(Arg525Trp) NC_000010.11:43112148:C:T Identity +NM_000087.5:c.977A>G NP_000078.3:p.Asp326Gly NC_000004.12:47937504:T:C p.(Asp326Gly) NC_000004.12:47937504:T:C p.(Asp326Gly) NC_000004.12:47937504:T:C Identity +NM_015629.4:c.615C>G NP_056444.3:p.Tyr205Ter NC_000019.10:54123835:C:G p.(Tyr205Ter) NC_000019.10:54123835:C:G p.(Tyr205Ter) NC_000019.10:54123835:C:G Identity +NM_000251.3:c.1986G>C NP_000242.1:p.Gln662His NC_000002.12:47475250:G:C p.(Gln662His) NC_000002.12:47475250:G:C p.(Gln662His) NC_000002.12:47475250:G:C Identity +NM_000264.5:c.1186C>G NP_000255.2:p.Leu396Val NC_000009.12:95479028:G:C p.(Leu396Val) NC_000009.12:95479028:G:C p.(Leu396Val) NC_000009.12:95479028:G:C Identity +NM_001048171.2:c.1171G>A NP_001041636.2:p.Ala391Thr NC_000001.11:45331487:C:T p.(Ala391Thr) NC_000001.11:45331487:C:T p.(Ala391Thr) NC_000001.11:45331487:C:T Identity +NM_001110792.2:c.1394G>A NP_001104262.1:p.Arg465Gln NC_000023.11:154030469:C:T p.(Arg465Gln) NC_000023.11:154030469:C:T p.(Arg465Gln) NC_000023.11:154030469:C:T Identity +NM_001110792.2:c.449T>C NP_001104262.1:p.Leu150Ser NC_000023.11:154031414:A:G p.(Leu150Ser) NC_000023.11:154031414:A:G p.(Leu150Ser) NC_000023.11:154031414:A:G Identity +NM_001110792.2:c.503A>C NP_001104262.1:p.Asp168Ala NC_000023.11:154031360:T:G p.(Asp168Ala) NC_000023.11:154031360:T:G p.(Asp168Ala) NC_000023.11:154031360:T:G Identity +NM_005857.5:c.1385T>G NP_005848.2:p.Leu462Arg NC_000001.11:40292625:T:G p.(Leu462Arg) NC_000001.11:40292625:T:G p.(Leu462Arg) NC_000001.11:40292625:T:G Identity +NM_000051.4:c.2418G>T NP_000042.3:p.Leu806Phe NC_000011.10:108259026:G:T p.(Leu806Phe) NC_000011.10:108259026:G:T p.(Leu806Phe) NC_000011.10:108259026:G:T Identity +NM_000038.6:c.2218G>C NP_000029.2:p.Ala740Pro NC_000005.10:112837811:G:C p.(Ala740Pro) NC_000005.10:112837811:G:C p.(Ala740Pro) NC_000005.10:112837811:G:C Identity +NM_000038.6:c.5656G>A NP_000029.2:p.Glu1886Lys NC_000005.10:112841249:G:A p.(Glu1886Lys) NC_000005.10:112841249:G:A p.(Glu1886Lys) NC_000005.10:112841249:G:A Identity +NM_001355216.2:c.582C>G NP_001342145.1:p.Asn194Lys NC_000010.11:43111286:C:G p.(Asn194Lys) NC_000010.11:43111286:C:G p.(Asn194Lys) NC_000010.11:43111286:C:G Identity +NM_000059.4:c.7630G>A NP_000050.3:p.Gly2544Ser NC_000013.11:32357753:G:A p.(Gly2544Ser) NC_000013.11:32357753:G:A p.(Gly2544Ser) NC_000013.11:32357753:G:A Identity +NM_000059.4:c.6702del NP_000050.3:p.Phe2234fs NC_000013.11:32341053:TTTT:TTT p.(Phe2234LeufsTer7) NC_000013.11:32341053:TTTT:TTT p.(Phe2234LeufsTer7) NC_000013.11:32341056:T: Analogous +NM_001317184.2:c.994G>A NP_001304113.1:p.Gly332Arg NC_000016.10:68811844:G:A p.(Gly332Arg) NC_000016.10:68811844:G:A p.(Gly332Arg) NC_000016.10:68811844:G:A Identity +NM_024675.4:c.2074C>T NP_078951.2:p.Gln692Ter NC_000016.10:23630079:G:A p.(Gln692Ter) NC_000016.10:23630079:G:A p.(Gln692Ter) NC_000016.10:23630079:G:A Identity +NM_001759.4:c.842C>G NP_001750.1:p.Pro281Arg NC_000012.12:4299980:C:G p.(Pro281Arg) NC_000012.12:4299980:C:G p.(Pro281Arg) NC_000012.12:4299980:C:G Identity +NM_006662.3:c.7000C>T NP_006653.2:p.Gln2334Ter NC_000016.10:30736615:C:T p.(Gln2334Ter) NC_000016.10:30736615:C:T p.(Gln2334Ter) NC_000016.10:30736615:C:T Identity +NM_001177428.1:c.1429T>G NP_001170899.1:p.Phe477Val NC_000012.12:109793943:A:C p.(Phe477Val) NC_000012.12:109793943:A:C p.(Phe477Val) NC_000012.12:109793943:A:C Identity +NM_001294332.2:c.523del NP_001281261.1:p.Asp175fs NC_000005.10:228228:GG:G p.(Asp175IlefsTer3) NC_000005.10:228228:GG:G p.(Asp175IlefsTer3) NC_000005.10:228229:G: Analogous +NM_000038.6:c.3691C>G NP_000029.2:p.Leu1231Val NC_000005.10:112839284:C:G p.(Leu1231Val) NC_000005.10:112839284:C:G p.(Leu1231Val) NC_000005.10:112839284:C:G Identity +NM_000455.5:c.842C>T NP_000446.1:p.Pro281Leu NC_000019.10:1221319:C:T p.(Pro281Leu) NC_000019.10:1221319:C:T p.(Pro281Leu) NC_000019.10:1221319:C:T Identity +NM_000179.3:c.4054A>C NP_000170.1:p.Lys1352Gln NC_000002.12:47806830:A:C p.(Lys1352Gln) NC_000002.12:47806830:A:C p.(Lys1352Gln) NC_000002.12:47806830:A:C Identity +NM_005732.4:c.3824A>G NP_005723.2:p.Glu1275Gly NC_000005.10:132642248:A:G p.(Glu1275Gly) NC_000005.10:132642248:A:G p.(Glu1275Gly) NC_000005.10:132642248:A:G Identity +NM_000455.5:c.1168G>A NP_000446.1:p.Val390Met NC_000019.10:1226512:G:A p.(Val390Met) NC_000019.10:1226512:G:A p.(Val390Met) NC_000019.10:1226512:G:A Identity +NM_001024688.3:c.1108A>C NP_001019859.1:p.Thr370Pro NC_000008.11:89955325:T:G p.(Thr370Pro) NC_000008.11:89955325:T:G p.(Thr370Pro) NC_000008.11:89955325:T:G Identity +NM_001190458.2:c.5608G>C NP_001177387.1:p.Ala1870Pro NC_000009.12:449873:G:C p.(Ala1870Pro) NC_000009.12:449873:G:C p.(Ala1870Pro) NC_000009.12:449873:G:C Identity +NM_001018041.2:c.903G>C NP_001018051.1:p.Pro301= NC_000006.12:145627508:C:G p.(Pro301=) NC_000006.12:145627508:C:G p.(Pro301=) NC_000006.12:145627508:C:G Identity +NM_001204466.2:c.217C>T NP_001191395.1:p.Gln73Ter NC_000023.11:47173142:C:T p.(Gln73Ter) NC_000023.11:47173142:C:T p.(Gln73Ter) NC_000023.11:47173142:C:T Identity +NM_001145853.1:c.1294C>G NP_001139325.1:p.Leu432Val NC_000004.12:6301088:C:G p.(Leu432Val) NC_000004.12:6301088:C:G p.(Leu432Val) NC_000004.12:6301088:C:G Identity +NM_001024613.4:c.832C>T NP_001019784.2:p.His278Tyr NC_000007.14:122303280:G:A p.(His278Tyr) NC_000007.14:122303280:G:A p.(His278Tyr) NC_000007.14:122303280:G:A Identity +NM_001317184.2:c.1103C>T NP_001304113.1:p.Thr368Ile NC_000016.10:68812228:C:T p.(Thr368Ile) NC_000016.10:68812228:C:T p.(Thr368Ile) NC_000016.10:68812228:C:T Identity +NM_001317184.2:c.1292G>C NP_001304113.1:p.Arg431Thr NC_000016.10:68815668:G:C p.(Arg431Thr) NC_000016.10:68815668:G:C p.(Arg431Thr) NC_000016.10:68815668:G:C Identity +NM_024675.4:c.2052del NP_078951.2:p.Arg686fs NC_000016.10:23630101:GGG:GG p.(Arg686GlyfsTer23) NC_000016.10:23630101:GGG:GG p.(Arg686GlyfsTer23) NC_000016.10:23630101:G: Analogous +NM_001048171.2:c.842G>A NP_001041636.2:p.Arg281His NC_000001.11:45332172:C:T p.(Arg281His) NC_000001.11:45332172:C:T p.(Arg281His) NC_000001.11:45332172:C:T Identity +NM_001407571.1:c.3076A>T NP_001394500.1:p.Ser1026Cys NC_000017.11:43092241:T:A p.(Ser1026Cys) NC_000017.11:43092241:T:A p.(Ser1026Cys) NC_000017.11:43092241:T:A Identity +NM_000051.4:c.4477C>T NP_000042.3:p.Leu1493Phe NC_000011.10:108292658:C:T p.(Leu1493Phe) NC_000011.10:108292658:C:T p.(Leu1493Phe) NC_000011.10:108292658:C:T Identity +NM_001142800.2:c.7694del NP_001136272.1:p.Asn2565fs NC_000006.12:63788133:TTT:TT p.(Asn2565MetfsTer52) NC_000006.12:63788133:TTT:TT p.(Asn2565MetfsTer52) NC_000006.12:63788133:T: Analogous +NM_014249.4:c.361G>A NP_055064.1:p.Glu121Lys NC_000015.10:71811965:G:A p.(Glu121Lys) NC_000015.10:71811965:G:A p.(Glu121Lys) NC_000015.10:71811965:G:A Identity +NM_001330347.2:c.1139G>A NP_001317276.1:p.Arg380His NC_000011.10:94464198:C:T p.(Arg380His) NC_000011.10:94464198:C:T p.(Arg380His) NC_000011.10:94464198:C:T Identity +NM_024675.4:c.26delinsCG NP_078951.2:p.Leu9fs NC_000016.10:23641131:A:CG p.(Leu9ProfsTer4) NC_000016.10:23641131:A:CG p.(Leu9ProfsTer4) NC_000016.10:23641131:A:CG Analogous +NM_001048171.2:c.524G>C NP_001041636.2:p.Arg175Pro NC_000001.11:45332655:C:G p.(Arg175Pro) NC_000001.11:45332655:C:G p.(Arg175Pro) NC_000001.11:45332655:C:G Identity +NM_001042472.3:c.1116C>G NP_001035937.1:p.His372Gln NC_000020.11:25302259:G:C p.(His372Gln) NC_000020.11:25302259:G:C p.(His372Gln) NC_000020.11:25302259:G:C Identity +NM_001110792.2:c.1485G>C NP_001104262.1:p.Glu495Asp NC_000023.11:154030378:C:G p.(Glu495Asp) NC_000023.11:154030378:C:G p.(Glu495Asp) NC_000023.11:154030378:C:G Identity +NM_001110792.2:c.293C>G NP_001104262.1:p.Ser98Cys NC_000023.11:154032326:G:C p.(Ser98Cys) NC_000023.11:154032326:G:C p.(Ser98Cys) NC_000023.11:154032326:G:C Identity +NM_001362836.2:c.620G>A NP_001349765.1:p.Arg207Gln NC_000008.11:105798762:G:A p.(Arg207Gln) NC_000008.11:105798762:G:A p.(Arg207Gln) NC_000008.11:105798762:G:A Identity +NM_000548.5:c.3323C>T NP_000539.2:p.Ala1108Val NC_000016.10:2079594:C:T p.(Ala1108Val) NC_000016.10:2079594:C:T p.(Ala1108Val) NC_000016.10:2079594:C:T Identity +NM_000249.4:c.1401del NP_000240.1:p.Ser467fs NC_000003.12:37025998:C: p.(Ser467ArgfsTer24) NC_000003.12:37025998:C: p.(Ser467ArgfsTer24) NC_000003.12:37025998:C: Analogous +NM_032043.3:c.1616G>A NP_114432.2:p.Arg539Lys NC_000017.11:61784281:C:T p.(Arg539Lys) NC_000017.11:61784281:C:T p.(Arg539Lys) NC_000017.11:61784281:C:T Identity +NM_000465.4:c.1409A>G NP_000456.2:p.Asn470Ser NC_000002.12:214767640:T:C p.(Asn470Ser) NC_000002.12:214767640:T:C p.(Asn470Ser) NC_000002.12:214767640:T:C Identity +NM_001407571.1:c.1321C>G NP_001394500.1:p.Leu441Val NC_000017.11:43093996:G:C p.(Leu441Val) NC_000017.11:43093996:G:C p.(Leu441Val) NC_000017.11:43093996:G:C Identity +NM_000465.4:c.1615A>G NP_000456.2:p.Met539Val NC_000002.12:214752508:T:C p.(Met539Val) NC_000002.12:214752508:T:C p.(Met539Val) NC_000002.12:214752508:T:C Identity +NM_000038.6:c.3260_3261del NP_000029.2:p.Leu1087fs NC_000005.10:112838852:CTC:C p.(Leu1087GlnfsTer31) NC_000005.10:112838852:CTC:C p.(Leu1087GlnfsTer31) NC_000005.10:112838853:TC: Analogous +NM_000179.3:c.596C>T NP_000170.1:p.Pro199Leu NC_000002.12:47796031:C:T p.(Pro199Leu) NC_000002.12:47796031:C:T p.(Pro199Leu) NC_000002.12:47796031:C:T Identity +NM_000051.4:c.1685A>G NP_000042.3:p.Asn562Ser NC_000011.10:108251913:A:G p.(Asn562Ser) NC_000011.10:108251913:A:G p.(Asn562Ser) NC_000011.10:108251913:A:G Identity +NM_000059.4:c.3671G>T NP_000050.3:p.Gly1224Val NC_000013.11:32338025:G:T p.(Gly1224Val) NC_000013.11:32338025:G:T p.(Gly1224Val) NC_000013.11:32338025:G:T Identity +NM_001330347.2:c.553C>G NP_001317276.1:p.Pro185Ala NC_000011.10:94476394:G:C p.(Pro185Ala) NC_000011.10:94476394:G:C p.(Pro185Ala) NC_000011.10:94476394:G:C Identity +NM_001171.6:c.1760C>G NP_001162.5:p.Ser587Cys NC_000016.10:16188849:G:C p.(Ser587Cys) NC_000016.10:16188849:G:C p.(Ser587Cys) NC_000016.10:16188849:G:C Identity +NM_001110792.2:c.1192_1193dup NP_001104262.1:p.Pro399fs NC_000023.11:154030670:AG:AGAG p.(Pro399CysfsTer23) NC_000023.11:154030670:AG:AGAG p.(Pro399CysfsTer23) ERR:SPDI Analogous +NM_001110792.2:c.437C>T NP_001104262.1:p.Ser146Phe NC_000023.11:154031426:G:A p.(Ser146Phe) NC_000023.11:154031426:G:A p.(Ser146Phe) NC_000023.11:154031426:G:A Identity +NM_001110792.2:c.715C>G NP_001104262.1:p.Gln239Glu NC_000023.11:154031148:G:C p.(Gln239Glu) NC_000023.11:154031148:G:C p.(Gln239Glu) NC_000023.11:154031148:G:C Identity +NM_001110792.2:c.772_773insAT NP_001104262.1:p.Met258fs NC_000023.11:154031091::AT p.(Met258AsnfsTer3) NC_000023.11:154031090:A:AT p.(Met258AsnfsTer3) NC_000023.11:154031091:AT:AT Analogous +NM_001037343.2:c.1675C>T NP_001032420.1:p.Arg559Ter NC_000023.11:18604598:C:T p.(Arg559Ter) NC_000023.11:18604598:C:T p.(Arg559Ter) NC_000023.11:18604598:C:T Identity +NM_001008844.3:c.4498_4499delinsAT NP_001008844.1:p.Pro1500Ile NC_000006.12:7583556:CC:AT p.(Pro1500Ile) NC_000006.12:7583556:CC:AT p.(Pro1500Ile) NC_000006.12:7583556:CC:AT Identity +NM_000462.5:c.1574_1575del NP_000453.2:p.Leu525fs NC_000015.10:25370607:GAG:G p.(Leu525GlnfsTer3) NC_000015.10:25370607:GAG:G p.(Leu525GlnfsTer3) NC_000015.10:25370607:GA: Analogous +NM_000053.4:c.2128G>A NP_000044.2:p.Gly710Ser NC_000013.11:51958537:C:T p.(Gly710Ser) NC_000013.11:51958537:C:T p.(Gly710Ser) NC_000013.11:51958537:C:T Identity +NM_000069.3:c.3256C>A NP_000060.2:p.Arg1086Ser NC_000001.11:201060815:G:T p.(Arg1086Ser) NC_000001.11:201060815:G:T p.(Arg1086Ser) NC_000001.11:201060815:G:T Identity +NM_001037343.2:c.700C>T NP_001032420.1:p.Gln234Ter NC_000023.11:18588098:C:T p.(Gln234Ter) NC_000023.11:18588098:C:T p.(Gln234Ter) NC_000023.11:18588098:C:T Identity +NM_000462.5:c.451C>T NP_000453.2:p.Arg151Cys NC_000015.10:25371731:G:A p.(Arg151Cys) NC_000015.10:25371731:G:A p.(Arg151Cys) NC_000015.10:25371731:G:A Identity +NM_001037343.2:c.2254dup NP_001032420.1:p.Arg752fs NC_000023.11:18613248:AAAAA:AAAAAA p.(Arg752LysfsTer12) NC_000023.11:18613248:AAAAA:AAAAAA p.(Arg752LysfsTer12) ERR:SPDI Analogous +NM_001351527.2:c.3968G>A NP_001338456.1:p.Arg1323Gln NC_000009.12:132327629:C:T p.(Arg1323Gln) NC_000009.12:132327629:C:T p.(Arg1323Gln) NC_000009.12:132327629:C:T Identity +NM_025059.4:c.1810G>A NP_079335.2:p.Val604Ile NC_000006.12:151615541:G:A p.(Val604Ile) NC_000006.12:151615541:G:A p.(Val604Ile) NC_000006.12:151615541:G:A Identity +NM_000462.5:c.2036C>T NP_000453.2:p.Thr679Ile NC_000015.10:25355988:G:A p.(Thr679Ile) NC_000015.10:25355988:G:A p.(Thr679Ile) NC_000015.10:25355988:G:A Identity +NM_001377260.1:c.12C>G NP_001364189.1:p.Asp4Glu NC_000001.11:231421876:G:C p.(Asp4Glu) NC_000001.11:231421876:G:C p.(Asp4Glu) NC_000001.11:231421876:G:C Identity +NM_001346754.2:c.499A>G NP_001333683.1:p.Met167Val NC_000017.11:36537599:A:G p.(Met167Val) NC_000017.11:36537599:A:G p.(Met167Val) NC_000017.11:36537599:A:G Identity +NM_000059.4:c.6257T>C NP_000050.3:p.Ile2086Thr NC_000013.11:32340611:T:C p.(Ile2086Thr) NC_000013.11:32340611:T:C p.(Ile2086Thr) NC_000013.11:32340611:T:C Identity +NM_001206846.2:c.1671_1672del NP_001193775.1:p.Ser557fs NC_000001.11:197142579:AA: p.(Ser557ArgfsTer2) NC_000001.11:197142579:AA: p.(Ser557ArgfsTer2) NC_000001.11:197142579:AA: Analogous +NM_018136.5:c.5299G>C NP_060606.3:p.Ala1767Pro NC_000001.11:197103951:C:G p.(Ala1767Pro) NC_000001.11:197103951:C:G p.(Ala1767Pro) NC_000001.11:197103951:C:G Identity +NM_001206846.2:c.932G>C NP_001193775.1:p.Ser311Thr NC_000001.11:197143319:C:G p.(Ser311Thr) NC_000001.11:197143319:C:G p.(Ser311Thr) NC_000001.11:197143319:C:G Identity +NM_001184.4:c.891G>C NP_001175.2:p.Lys297Asn NC_000003.12:142562510:C:G p.(Lys297Asn) NC_000003.12:142562510:C:G p.(Lys297Asn) NC_000003.12:142562510:C:G Identity +NM_018136.5:c.4213C>T NP_060606.3:p.Arg1405Cys NC_000001.11:197105037:G:A p.(Arg1405Cys) NC_000001.11:197105037:G:A p.(Arg1405Cys) NC_000001.11:197105037:G:A Identity +NM_018136.5:c.8711_8712del NP_060606.3:p.Gln2904fs NC_000001.11:197100538:TT: p.(Gln2904ArgfsTer15) NC_000001.11:197100538:TT: p.(Gln2904ArgfsTer15) NC_000001.11:197100538:TT: Analogous +NM_001184.4:c.6961T>C NP_001175.2:p.Phe2321Leu NC_000003.12:142465176:A:G p.(Phe2321Leu) NC_000003.12:142465176:A:G p.(Phe2321Leu) NC_000003.12:142465176:A:G Identity +NM_001194998.2:c.2679del NP_001181927.1:p.Ser894fs NC_000015.10:48760149:G: p.(Ser894LeufsTer2) NC_000015.10:48760149:G: p.(Ser894LeufsTer2) NC_000015.10:48760149:G: Analogous +NM_017780.4:c.5551G>T NP_060250.2:p.Glu1851Ter NC_000008.11:60851047:G:T p.(Glu1851Ter) NC_000008.11:60851047:G:T p.(Glu1851Ter) NC_000008.11:60851047:G:T Identity +NM_001194998.2:c.1180A>G NP_001181927.1:p.Ile394Val NC_000015.10:48784113:T:C p.(Ile394Val) NC_000015.10:48784113:T:C p.(Ile394Val) NC_000015.10:48784113:T:C Identity +NM_001194998.2:c.2068C>T NP_001181927.1:p.Arg690Cys NC_000015.10:48767413:G:A p.(Arg690Cys) NC_000015.10:48767413:G:A p.(Arg690Cys) NC_000015.10:48767413:G:A Identity +NM_017780.4:c.6157C>T NP_060250.2:p.Arg2053Ter NC_000008.11:60852881:C:T p.(Arg2053Ter) NC_000008.11:60852881:C:T p.(Arg2053Ter) NC_000008.11:60852881:C:T Identity +NM_001287249.2:c.164C>T NP_001274178.1:p.Pro55Leu NC_000002.12:241743696:C:T p.(Pro55Leu) NC_000002.12:241743696:C:T p.(Pro55Leu) NC_000002.12:241743696:C:T Identity +NM_001011649.3:c.2294C>G NP_001011649.1:p.Pro765Arg NC_000009.12:120458530:G:C p.(Pro765Arg) NC_000009.12:120458530:G:C p.(Pro765Arg) NC_000009.12:120458530:G:C Identity +NM_001011649.3:c.3679A>T NP_001011649.1:p.Ile1227Phe NC_000009.12:120439441:T:A p.(Ile1227Phe) NC_000009.12:120439441:T:A p.(Ile1227Phe) NC_000009.12:120439441:T:A Identity +NM_001011649.3:c.5176C>T NP_001011649.1:p.Leu1726Phe NC_000009.12:120400779:G:A p.(Leu1726Phe) NC_000009.12:120400779:G:A p.(Leu1726Phe) NC_000009.12:120400779:G:A Identity +NM_000053.4:c.1336G>C NP_000044.2:p.Val446Leu NC_000013.11:51970698:C:G p.(Val446Leu) NC_000013.11:51970698:C:G p.(Val446Leu) NC_000013.11:51970698:C:G Identity +NM_001037343.2:c.1797dup NP_001032420.1:p.Ser600fs NC_000023.11:18604719:CC:CCC p.(Ser600GlnfsTer11) NC_000023.11:18604719:CC:CCC p.(Ser600GlnfsTer11) ERR:SPDI Analogous +NM_001316690.1:c.191_194del NP_001303619.1:p.Thr64fs NC_000008.11:60741618:CAAACAAA:CAAA p.(Thr64SerfsTer2) NC_000008.11:60741618:CAAACAAA:CAAA p.(Thr64SerfsTer2) NC_000008.11:60741622:CAAA: Analogous +NM_000555.3:c.894del NP_000546.2:p.Ile299fs NC_000023.11:111401043:GG:G p.(Ile299SerfsTer19) NC_000023.11:111401043:GG:G p.(Ile299SerfsTer19) NC_000023.11:111401043:G: Analogous +NM_006579.3:c.632T>G NP_006570.1:p.Leu211Arg NC_000023.11:48528395:T:G p.(Leu211Arg) NC_000023.11:48528395:T:G p.(Leu211Arg) NC_000023.11:48528395:T:G Identity +NM_000555.3:c.371T>C NP_000546.2:p.Leu124Ser NC_000023.11:111410270:A:G p.(Leu124Ser) NC_000023.11:111410270:A:G p.(Leu124Ser) NC_000023.11:111410270:A:G Identity +NM_000555.3:c.430C>T NP_000546.2:p.Arg144Cys NC_000023.11:111410211:G:A p.(Arg144Cys) NC_000023.11:111410211:G:A p.(Arg144Cys) NC_000023.11:111410211:G:A Identity +NM_000555.3:c.547C>T NP_000546.2:p.Arg183Cys NC_000023.11:111410094:G:A p.(Arg183Cys) NC_000023.11:111410094:G:A p.(Arg183Cys) NC_000023.11:111410094:G:A Identity +NM_178152.3:c.734ATG[2] NP_835365.1:p.Asp247del NC_000023.11:111333116:CATCATCATCA:CATCATCA p.(Asp247del) NC_000023.11:111333124:T:CATCAT ERR:Parse ERR:Parse Identity +NM_000555.3:c.994G>T NP_000546.2:p.Ala332Ser NC_000023.11:111333107:C:A p.(Ala332Ser) NC_000023.11:111333107:C:A p.(Ala332Ser) NC_000023.11:111333107:C:A Identity +NM_001145770.3:c.1850G>C NP_001139242.1:p.Trp617Ser NC_000016.10:57661881:G:C p.(Trp617Ser) NC_000016.10:57661881:G:C p.(Trp617Ser) NC_000016.10:57661881:G:C Identity +NM_003482.4:c.8360A>C NP_003473.3:p.Asn2787Thr NC_000012.12:49039227:T:G p.(Asn2787Thr) NC_000012.12:49039227:T:G p.(Asn2787Thr) NC_000012.12:49039227:T:G Identity +NM_001172574.2:c.1616A>G NP_001166045.2:p.Asp539Gly NC_000008.11:6445337:A:G p.(Asp539Gly) NC_000008.11:6445337:A:G p.(Asp539Gly) NC_000008.11:6445337:A:G Identity +NM_000252.3:c.420C>G NP_000243.1:p.Tyr140Ter NC_000023.11:150619114:C:G p.(Tyr140Ter) NC_000023.11:150619114:C:G p.(Tyr140Ter) NC_000023.11:150619114:C:G Identity +NM_003482.4:c.12592C>T NP_003473.3:p.Arg4198Ter NC_000012.12:49032112:G:A p.(Arg4198Ter) NC_000012.12:49032112:G:A p.(Arg4198Ter) NC_000012.12:49032112:G:A Identity +NM_001322042.2:c.2401A>G NP_001308971.2:p.Ser801Gly NC_000008.11:6621639:A:G p.(Ser801Gly) NC_000008.11:6621639:A:G p.(Ser801Gly) NC_000008.11:6621639:A:G Identity +NM_000252.3:c.139_141del NP_000243.1:p.Lys47del NC_000023.11:150598593:AAA: p.(Lys47del) NC_000023.11:150598593:AAA: p.(Lys47del) NC_000023.11:150598593:AAA: Identity +NM_015384.5:c.4684_4687del NP_056199.2:p.Phe1562fs NC_000005.10:37016075:TGTTTG:TG p.(Phe1562LysfsTer26) NC_000005.10:37016075:TGTTTG:TG p.(Phe1562LysfsTer26) NC_000005.10:37016077:TTTG: Analogous +NM_015384.5:c.7348_7350del NP_056199.2:p.Met2450del NC_000005.10:37057269:ATG: p.(Met2450del) NC_000005.10:37057269:ATG: p.(Met2450del) NC_000005.10:37057269:ATG: Identity +NM_000555.3:c.542G>A NP_000546.2:p.Gly181Glu NC_000023.11:111410099:C:T p.(Gly181Glu) NC_000023.11:111410099:C:T p.(Gly181Glu) NC_000023.11:111410099:C:T Identity +NM_000252.3:c.535C>T NP_000243.1:p.Pro179Ser NC_000023.11:150641274:C:T p.(Pro179Ser) NC_000023.11:150641274:C:T p.(Pro179Ser) NC_000023.11:150641274:C:T Identity +NM_000252.3:c.791T>G NP_000243.1:p.Ile264Ser NC_000023.11:150645794:T:G p.(Ile264Ser) NC_000023.11:150645794:T:G p.(Ile264Ser) NC_000023.11:150645794:T:G Identity +NM_015384.5:c.2108del NP_056199.2:p.Pro703fs NC_000005.10:36985284:CCCC:CCC p.(Pro703GlnfsTer91) NC_000005.10:36985284:CCCC:CCC p.(Pro703GlnfsTer91) NC_000005.10:36985287:C: Analogous +NM_015384.5:c.1477A>G NP_056199.2:p.Lys493Glu NC_000005.10:36976383:A:G p.(Lys493Glu) NC_000005.10:36976383:A:G p.(Lys493Glu) NC_000005.10:36976383:A:G Identity +NM_000525.4:c.584G>A NP_000516.3:p.Arg195His NC_000011.10:17387507:C:T p.(Arg195His) NC_000011.10:17387507:C:T p.(Arg195His) NC_000011.10:17387507:C:T Identity +NM_003482.4:c.14840C>A NP_003473.3:p.Pro4947His NC_000012.12:49027125:G:T p.(Pro4947His) NC_000012.12:49027125:G:T p.(Pro4947His) NC_000012.12:49027125:G:T Identity +NM_003482.4:c.6844C>T NP_003473.3:p.Arg2282Trp NC_000012.12:49040925:G:A p.(Arg2282Trp) NC_000012.12:49040925:G:A p.(Arg2282Trp) NC_000012.12:49040925:G:A Identity +NM_000430.4:c.455_456del NP_000421.1:p.Ser152fs NC_000017.11:2670215:CTCT:CT p.(Ser152CysfsTer23) NC_000017.11:2670215:CTCT:CT p.(Ser152CysfsTer23) NC_000017.11:2670217:CT: Analogous +NM_000430.4:c.851G>A NP_000421.1:p.Trp284Ter NC_000017.11:2674238:G:A p.(Trp284Ter) NC_000017.11:2674238:G:A p.(Trp284Ter) NC_000017.11:2674238:G:A Identity +NM_001365684.2:c.4868G>C NP_001352613.2:p.Arg1623Pro NC_000005.10:177280682:G:C p.(Arg1623Pro) NC_000005.10:177280682:G:C p.(Arg1623Pro) NC_000005.10:177280682:G:C Identity +NM_001315529.2:c.2356C>T NP_001302458.1:p.Leu786Phe NC_000021.9:46366683:C:T p.(Leu786Phe) NC_000021.9:46366683:C:T p.(Leu786Phe) NC_000021.9:46366683:C:T Identity +NM_001315529.2:c.4556C>T NP_001302458.1:p.Pro1519Leu NC_000021.9:46401668:C:T p.(Pro1519Leu) NC_000021.9:46401668:C:T p.(Pro1519Leu) NC_000021.9:46401668:C:T Identity +LRG_773t1:c.481C>T LRG_773p1:p.Gln161Ter NC_000023.11:53413299:G:A ERR:Data provider error: ValueError: Transcript LRG_773t1 not found ERR:Data provider error: ValueError: Transcript LRG_773t1 not found ERR:AlignmentMapper(tx_ac=LRG_773t1, alt_ac=LRG_773t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_773t1, alt_ac=LRG_773t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_773t1 not found +NM_001048166.1:c.3157G>A NP_001041631.1:p.Gly1053Ser NC_000001.11:47251845:C:T p.(Gly1053Ser) NC_000001.11:47251845:C:T p.(Gly1053Ser) NC_000001.11:47251845:C:T Identity +NM_019075.4:c.1222G>T NP_061948.1:p.Val408Leu NC_000002.12:233768365:G:T p.(Val408Leu) NC_000002.12:233768365:G:T p.(Val408Leu) NC_000002.12:233768365:G:T Identity +NM_001083961.2:c.32G>C NP_001077430.1:p.Arg11Pro NC_000019.10:36055002:G:C p.(Arg11Pro) NC_000019.10:36055002:G:C p.(Arg11Pro) NC_000019.10:36055002:G:C Identity +NM_007254.4:c.188C>T NP_009185.2:p.Ala63Val NC_000019.10:49866408:G:A p.(Ala63Val) NC_000019.10:49866408:G:A p.(Ala63Val) NC_000019.10:49866408:G:A Identity +NM_001270399.2:c.1148C>T NP_001257328.1:p.Ala383Val NC_000012.12:49185217:G:A p.(Ala383Val) NC_000012.12:49185217:G:A p.(Ala383Val) NC_000012.12:49185217:G:A Identity +NM_178012.5:c.553G>A NP_821080.1:p.Ala185Thr NC_000006.12:3225535:C:T p.(Ala185Thr) NC_000006.12:3225535:C:T p.(Ala185Thr) NC_000006.12:3225535:C:T Identity +NM_001083961.2:c.3611G>T NP_001077430.1:p.Gly1204Val NC_000019.10:36103438:G:T p.(Gly1204Val) NC_000019.10:36103438:G:T p.(Gly1204Val) NC_000019.10:36103438:G:T Identity +NM_001315529.2:c.1757G>A NP_001302458.1:p.Gly586Glu NC_000021.9:46357147:G:A p.(Gly586Glu) NC_000021.9:46357147:G:A p.(Gly586Glu) NC_000021.9:46357147:G:A Identity +NM_004278.4:c.652C>G NP_004269.1:p.Gln218Glu NC_000017.11:16317899:C:G p.(Gln218Glu) NC_000017.11:16317899:C:G p.(Gln218Glu) NC_000017.11:16317899:C:G Identity +NM_004560.4:c.2455G>A NP_004551.2:p.Val819Ile NC_000009.12:91724038:C:T p.(Val819Ile) NC_000009.12:91724038:C:T p.(Val819Ile) NC_000009.12:91724038:C:T Identity +NM_001130110.2:c.664G>A NP_001123582.1:p.Ala222Thr NC_000018.10:44876687:G:A p.(Ala222Thr) NC_000018.10:44876687:G:A p.(Ala222Thr) NC_000018.10:44876687:G:A Identity +NM_000527.5:c.859G>A NP_000518.1:p.Gly287Ser NC_000019.10:11107432:G:A p.(Gly287Ser) NC_000019.10:11107432:G:A p.(Gly287Ser) NC_000019.10:11107432:G:A Identity +NM_000244.4:c.578C>T NP_000235.3:p.Pro193Leu NC_000011.10:64807981:G:A p.(Pro193Leu) NC_000011.10:64807981:G:A p.(Pro193Leu) NC_000011.10:64807981:G:A Identity +LRG_386t1:c.2035C>T LRG_386p1:p.Pro679Ser NC_000011.10:47339682:G:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000313.4:c.284G>A NP_000304.2:p.Gly95Glu NC_000003.12:93910680:C:T p.(Gly95Glu) NC_000003.12:93910680:C:T p.(Gly95Glu) NC_000003.12:93910680:C:T Identity +NM_001024847.3:c.1060G>A NP_001020018.1:p.Ala354Thr NC_000003.12:30672167:G:A p.(Ala354Thr) NC_000003.12:30672167:G:A p.(Ala354Thr) NC_000003.12:30672167:G:A Identity +NM_001130438.3:c.6616GAG[1] NP_001123910.1:p.Glu2207del NC_000009.12:128627422:AGGAGGAG:AGGAG p.(Glu2207del) NC_000009.12:128627424:G:GAG ERR:Parse ERR:Parse Identity +NM_001083962.2:c.791del NP_001077431.1:p.Ser264fs NC_000018.10:55269961:C: p.(Ser264ThrfsTer43) NC_000018.10:55269961:C: p.(Ser264ThrfsTer43) NC_000018.10:55269961:C: Analogous +NM_001354895.2:c.2847G>T NP_001341824.1:p.Met949Ile NC_000005.10:112838440:G:T p.(Met949Ile) NC_000005.10:112838440:G:T p.(Met949Ile) NC_000005.10:112838440:G:T Identity +LRG_386t1:c.3412C>T LRG_386p1:p.Arg1138Cys NC_000011.10:47332891:G:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000312.4:c.160A>T NP_000303.1:p.Ser54Cys NC_000002.12:127421371:A:T p.(Ser54Cys) NC_000002.12:127421371:A:T p.(Ser54Cys) NC_000002.12:127421371:A:T Identity +NM_000190.4:c.674G>A NP_000181.2:p.Arg225Gln NC_000011.10:119092425:G:A p.(Arg225Gln) NC_000011.10:119092425:G:A p.(Arg225Gln) NC_000011.10:119092425:G:A Identity +NM_000222.3:c.952A>G NP_000213.1:p.Met318Val NC_000004.12:54707123:A:G p.(Met318Val) NC_000004.12:54707123:A:G p.(Met318Val) NC_000004.12:54707123:A:G Identity +NM_001278585.2:c.1088C>G NP_001265514.1:p.Pro363Arg NC_000004.12:47665220:G:C p.(Pro363Arg) NC_000004.12:47665220:G:C p.(Pro363Arg) NC_000004.12:47665220:G:C Identity +NM_002769.5:c.343T>A NP_002760.1:p.Ser115Thr NC_000007.14:142751915:T:A p.(Ser115Thr) NC_000007.14:142751915:T:A p.(Ser115Thr) NC_000007.14:142751915:T:A Identity +NM_001024847.3:c.1732T>A NP_001020018.1:p.Ser578Thr NC_000003.12:30691551:T:A p.(Ser578Thr) NC_000003.12:30691551:T:A p.(Ser578Thr) NC_000003.12:30691551:T:A Identity +NM_014458.4:c.257del NP_055273.2:p.Leu86fs NC_000001.11:173733942:TTTT:TTT p.(Leu86CysfsTer24) NC_000001.11:173733942:TTTT:TTT p.(Leu86CysfsTer24) NC_000001.11:173733945:T: Analogous +NM_022045.5:c.2380A>G NP_071328.2:p.Ile794Val NC_000008.11:120517983:A:G p.(Ile794Val) NC_000008.11:120517983:A:G p.(Ile794Val) NC_000008.11:120517983:A:G Identity +NM_001348078.2:c.471G>T NP_001335007.1:p.Leu157Phe NC_000016.10:48256611:G:T p.(Leu157Phe) NC_000016.10:48256611:G:T p.(Leu157Phe) NC_000016.10:48256611:G:T Identity +NM_173536.4:c.32C>T NP_775807.2:p.Pro11Leu NC_000004.12:46123881:G:A p.(Pro11Leu) NC_000004.12:46123881:G:A p.(Pro11Leu) NC_000004.12:46123881:G:A Identity +NM_178543.5:c.68C>T NP_848638.3:p.Pro23Leu NC_000017.11:79731206:C:T p.(Pro23Leu) NC_000017.11:79731206:C:T p.(Pro23Leu) NC_000017.11:79731206:C:T Identity +NM_152501.5:c.602G>A NP_689714.2:p.Arg201His NC_000001.11:158941998:G:A p.(Arg201His) NC_000001.11:158941998:G:A p.(Arg201His) NC_000001.11:158941998:G:A Identity +NM_001304418.3:c.1201C>T NP_001291347.1:p.Arg401Ter NC_000003.12:69119153:G:A p.(Arg401Ter) NC_000003.12:69119153:G:A p.(Arg401Ter) NC_000003.12:69119153:G:A Identity +NM_020461.4:c.4333_4334insT NP_065194.3:p.His1445fs NC_000022.11:50219438::A p.(His1445LeufsTer24) NC_000022.11:50219437:T:A p.(His1445LeufsTer24) NC_000022.11:50219438:TG:A Analogous +NM_018557.3:c.10187G>C NP_061027.2:p.Cys3396Ser NC_000002.12:140444436:C:G p.(Cys3396Ser) NC_000002.12:140444436:C:G p.(Cys3396Ser) NC_000002.12:140444436:C:G Identity +NM_001244008.2:c.604G>C NP_001230937.1:p.Ala202Pro NC_000002.12:240786338:C:G p.(Ala202Pro) NC_000002.12:240786338:C:G p.(Ala202Pro) NC_000002.12:240786338:C:G Identity +NM_001354044.2:c.88G>A NP_001340973.1:p.Asp30Asn NC_000002.12:63492855:C:T p.(Asp30Asn) NC_000002.12:63492855:C:T p.(Asp30Asn) NC_000002.12:63492855:C:T Identity +NM_022124.6:c.5168G>A NP_071407.4:p.Arg1723His NC_000010.11:71778288:G:A p.(Arg1723His) NC_000010.11:71778288:G:A p.(Arg1723His) NC_000010.11:71778288:G:A Identity +NM_001173425.2:c.676G>C NP_001166896.1:p.Gly226Arg NC_000009.12:114478713:C:G p.(Gly226Arg) NC_000009.12:114478713:C:G p.(Gly226Arg) NC_000009.12:114478713:C:G Identity +NM_000337.6:c.226G>T NP_000328.2:p.Gly76Cys NC_000005.10:156508633:G:T p.(Gly76Cys) NC_000005.10:156508633:G:T p.(Gly76Cys) NC_000005.10:156508633:G:T Identity +NM_001063.4:c.1069G>T NP_001054.2:p.Glu357Ter NC_000003.12:133759194:G:T p.(Glu357Ter) NC_000003.12:133759194:G:T p.(Glu357Ter) NC_000003.12:133759194:G:T Identity +NM_001167579.2:c.13G>A NP_001161051.1:p.Gly5Arg NC_000005.10:177385753:G:A p.(Gly5Arg) NC_000005.10:177385753:G:A p.(Gly5Arg) NC_000005.10:177385753:G:A Identity +NM_001363520.3:c.1243C>T NP_001350449.1:p.Arg415Ter NC_000004.12:127920742:G:A p.(Arg415Ter) NC_000004.12:127920742:G:A p.(Arg415Ter) NC_000004.12:127920742:G:A Identity +NM_001135058.2:c.1553A>G NP_001128530.1:p.Glu518Gly NC_000014.9:30889690:A:G p.(Glu518Gly) NC_000014.9:30889690:A:G p.(Glu518Gly) NC_000014.9:30889690:A:G Identity +NM_001083908.2:c.2068A>G NP_001077377.1:p.Met690Val NC_000014.9:49625843:T:C p.(Met690Val) NC_000014.9:49625843:T:C p.(Met690Val) NC_000014.9:49625843:T:C Identity +NM_001845.6:c.2263G>A NP_001836.3:p.Gly755Arg NC_000013.11:110179351:C:T p.(Gly755Arg) NC_000013.11:110179351:C:T p.(Gly755Arg) NC_000013.11:110179351:C:T Identity +NM_001128610.3:c.2152T>C NP_001122082.1:p.Ser718Pro NC_000015.10:50490442:T:C p.(Ser718Pro) NC_000015.10:50490442:T:C p.(Ser718Pro) NC_000015.10:50490442:T:C Identity +NM_001277115.2:c.10411G>A NP_001264044.1:p.Glu3471Lys NC_000007.14:21816544:G:A p.(Glu3471Lys) NC_000007.14:21816544:G:A p.(Glu3471Lys) NC_000007.14:21816544:G:A Identity +NM_001190458.2:c.1034A>G NP_001177387.1:p.Asn345Ser NC_000009.12:334336:A:G p.(Asn345Ser) NC_000009.12:334336:A:G p.(Asn345Ser) NC_000009.12:334336:A:G Identity +NM_004949.5:c.2263G>A NP_004940.1:p.Gly755Ser NC_000018.10:31069138:C:T p.(Gly755Ser) NC_000018.10:31069138:C:T p.(Gly755Ser) NC_000018.10:31069138:C:T Identity +NM_000138.5:c.6509G>A NP_000129.3:p.Cys2170Tyr NC_000015.10:48434700:C:T p.(Cys2170Tyr) NC_000015.10:48434700:C:T p.(Cys2170Tyr) NC_000015.10:48434700:C:T Identity +NM_001277115.2:c.3112A>G NP_001264044.1:p.Thr1038Ala NC_000007.14:21600786:A:G p.(Thr1038Ala) NC_000007.14:21600786:A:G p.(Thr1038Ala) NC_000007.14:21600786:A:G Identity +NM_001369.3:c.13194_13197del NP_001360.1:p.Asp4398fs NC_000005.10:13708263:TCTGTCT:TCT p.(Asp4398GlufsTer16) NC_000005.10:13708263:TCTGTCT:TCT p.(Asp4398GlufsTer16) NC_000005.10:13708263:TCTG: Analogous +NM_001278915.2:c.1424A>G NP_001265844.1:p.Asn475Ser NC_000007.14:74059876:A:G p.(Asn475Ser) NC_000007.14:74059876:A:G p.(Asn475Ser) NC_000007.14:74059876:A:G Identity +NM_001369786.1:c.290G>A NP_001356715.1:p.Arg97Lys NC_000012.12:25227233:C:T p.(Arg97Lys) NC_000012.12:25227233:C:T p.(Arg97Lys) NC_000012.12:25227233:C:T Identity +NM_001105206.3:c.106A>G NP_001098676.2:p.Ile36Val NC_000006.12:112254044:T:C p.(Ile36Val) NC_000006.12:112254044:T:C p.(Ile36Val) NC_000006.12:112254044:T:C Identity +NM_001145472.3:c.948T>G NP_001138944.1:p.Ile316Met NC_000018.10:46533255:A:C p.(Ile316Met) NC_000018.10:46533255:A:C p.(Ile316Met) NC_000018.10:46533255:A:C Identity +LRG_386t1:c.2556del LRG_386p1:p.Ile852fs NC_000011.10:47337436:G: ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000257.4:c.2572C>T NP_000248.2:p.Arg858Cys NC_000014.9:23424875:G:A p.(Arg858Cys) NC_000014.9:23424875:G:A p.(Arg858Cys) NC_000014.9:23424875:G:A Identity +NM_000256.3:c.1445C>T NP_000247.2:p.Ala482Val NC_000011.10:47342841:G:A p.(Ala482Val) NC_000011.10:47342841:G:A p.(Ala482Val) NC_000011.10:47342841:G:A Identity +NM_002458.3:c.442G>A NP_002449.2:p.Val148Ile NC_000011.10:1226856:G:A p.(Val148Ile) NC_000011.10:1226856:G:A p.(Val148Ile) NC_000011.10:1226856:G:A Identity +NM_001363520.3:c.805G>C NP_001350449.1:p.Glu269Gln NC_000004.12:127921955:C:G p.(Glu269Gln) NC_000004.12:127921955:C:G p.(Glu269Gln) NC_000004.12:127921955:C:G Identity +NM_001304430.2:c.198T>G NP_001291359.1:p.Phe66Leu NC_000013.11:94590871:A:C p.(Phe66Leu) NC_000013.11:94590871:A:C p.(Phe66Leu) NC_000013.11:94590871:A:C Identity +NM_000260.4:c.3892G>A NP_000251.3:p.Gly1298Arg NC_000011.10:77190837:G:A p.(Gly1298Arg) NC_000011.10:77190837:G:A p.(Gly1298Arg) NC_000011.10:77190837:G:A Identity +NM_000335.5:c.3659C>T NP_000326.2:p.Ala1220Val NC_000003.12:38575300:G:A p.(Ala1220Val) NC_000003.12:38575300:G:A p.(Ala1220Val) NC_000003.12:38575300:G:A Identity +NM_001145288.2:c.547G>A NP_001138760.1:p.Gly183Arg NC_000012.12:100393441:G:A p.(Gly183Arg) NC_000012.12:100393441:G:A p.(Gly183Arg) NC_000012.12:100393441:G:A Identity +NM_001300899.2:c.3322C>T NP_001287828.1:p.Pro1108Ser NC_000006.12:75908605:C:T p.(Pro1108Ser) NC_000006.12:75908605:C:T p.(Pro1108Ser) NC_000006.12:75908605:C:T Identity +NM_001035.3:c.6983C>T NP_001026.2:p.Pro2328Leu NC_000001.11:237639068:C:T p.(Pro2328Leu) NC_000001.11:237639068:C:T p.(Pro2328Leu) NC_000001.11:237639068:C:T Identity +NM_001038.6:c.1987A>G NP_001029.1:p.Thr663Ala NC_000012.12:6347895:T:C p.(Thr663Ala) NC_000012.12:6347895:T:C p.(Thr663Ala) NC_000012.12:6347895:T:C Identity +NM_000116.5:c.419C>T NP_000107.1:p.Thr140Ile NC_000023.11:154414148:C:T p.(Thr140Ile) NC_000023.11:154414148:C:T p.(Thr140Ile) NC_000023.11:154414148:C:T Identity +NM_001256850.1:c.50675G>A NP_001243779.1:p.Cys16892Tyr NC_000002.12:178601398:C:T p.(Cys16892Tyr) NC_000002.12:178601398:C:T p.(Cys16892Tyr) NC_000002.12:178601398:C:T Identity +NM_001256850.1:c.9884C>T NP_001243779.1:p.Thr3295Met NC_000002.12:178764630:G:A p.(Thr3295Met) NC_000002.12:178764630:G:A p.(Thr3295Met) NC_000002.12:178764630:G:A Identity +NM_001145853.1:c.799G>A NP_001139325.1:p.Asp267Asn NC_000004.12:6295126:G:A p.(Asp267Asn) NC_000004.12:6295126:G:A p.(Asp267Asn) NC_000004.12:6295126:G:A Identity +NM_006393.3:c.182C>T NP_006384.1:p.Ser61Phe NC_000010.11:20889920:G:A p.(Ser61Phe) NC_000010.11:20889920:G:A p.(Ser61Phe) NC_000010.11:20889920:G:A Identity +NM_002667.5:c.37dup NP_002658.1:p.Arg13fs NC_000006.12:118558956:AA:AAA p.(Arg13LysfsTer7) NC_000006.12:118558956:AA:AAA p.(Arg13LysfsTer7) ERR:SPDI Analogous +NM_001276289.2:c.623del NP_001263218.1:p.Gly208fs NC_000017.11:68525825:GG:G p.(Gly208GlufsTer14) NC_000017.11:68525825:GG:G p.(Gly208GlufsTer14) NC_000017.11:68525826:G: Analogous +NM_001167962.2:c.137T>C NP_001161434.1:p.Leu46Pro NC_000007.14:103421377:A:G p.(Leu46Pro) NC_000007.14:103421377:A:G p.(Leu46Pro) NC_000007.14:103421377:A:G Identity +NM_001378761.1:c.5428G>A NP_001365690.1:p.Gly1810Ser NC_000011.10:121158005:G:A p.(Gly1810Ser) NC_000011.10:121158005:G:A p.(Gly1810Ser) NC_000011.10:121158005:G:A Identity +NM_001039141.3:c.202A>T NP_001034230.1:p.Thr68Ser NC_000022.11:37710513:A:T p.(Thr68Ser) NC_000022.11:37710513:A:T p.(Thr68Ser) NC_000022.11:37710513:A:T Identity +NM_032119.4:c.13364G>A NP_115495.3:p.Ser4455Asn NC_000005.10:90783255:G:A p.(Ser4455Asn) NC_000005.10:90783255:G:A p.(Ser4455Asn) NC_000005.10:90783255:G:A Identity +NM_133378.4:c.46474G>A NP_596869.4:p.Val15492Ile NC_000002.12:178604998:C:T p.(Val15492Ile) NC_000002.12:178604998:C:T p.(Val15492Ile) NC_000002.12:178604998:C:T Identity +NM_133378.4:c.31685C>T NP_596869.4:p.Pro10562Leu NC_000002.12:178659060:G:A p.(Pro10562Leu) NC_000002.12:178659060:G:A p.(Pro10562Leu) NC_000002.12:178659060:G:A Identity +NM_017780.4:c.2933G>A NP_060250.2:p.Trp978Ter NC_000008.11:60822120:G:A p.(Trp978Ter) NC_000008.11:60822120:G:A p.(Trp978Ter) NC_000008.11:60822120:G:A Identity +NM_001256850.1:c.50750G>A NP_001243779.1:p.Arg16917His NC_000002.12:178601323:C:T p.(Arg16917His) NC_000002.12:178601323:C:T p.(Arg16917His) NC_000002.12:178601323:C:T Identity +NM_133378.4:c.42910G>C NP_596869.4:p.Ala14304Pro NC_000002.12:178611614:C:G p.(Ala14304Pro) NC_000002.12:178611614:C:G p.(Ala14304Pro) NC_000002.12:178611614:C:G Identity +NM_133378.4:c.30991C>A NP_596869.4:p.Leu10331Ile NC_000002.12:178672442:G:T p.(Leu10331Ile) NC_000002.12:178672442:G:T p.(Leu10331Ile) NC_000002.12:178672442:G:T Identity +NM_007123.6:c.2510G>A NP_009054.6:p.Arg837Gln NC_000001.11:216246883:C:T p.(Arg837Gln) NC_000001.11:216246883:C:T p.(Arg837Gln) NC_000001.11:216246883:C:T Identity +NM_000521.4:c.1652G>A NP_000512.2:p.Cys551Tyr NC_000005.10:74721155:G:A p.(Cys551Tyr) NC_000005.10:74721155:G:A p.(Cys551Tyr) NC_000005.10:74721155:G:A Identity +NM_002471.4:c.3508G>A NP_002462.2:p.Glu1170Lys NC_000014.9:23390280:C:T p.(Glu1170Lys) NC_000014.9:23390280:C:T p.(Glu1170Lys) NC_000014.9:23390280:C:T Identity +NM_000257.4:c.2052G>A NP_000248.2:p.Met684Ile NC_000014.9:23426073:C:T p.(Met684Ile) NC_000014.9:23426073:C:T p.(Met684Ile) NC_000014.9:23426073:C:T Identity +NM_002473.6:c.437T>A NP_002464.1:p.Met146Lys NC_000022.11:36341422:A:T p.(Met146Lys) NC_000022.11:36341422:A:T p.(Met146Lys) NC_000022.11:36341422:A:T Identity +NM_001378761.1:c.5484C>G NP_001365690.1:p.Cys1828Trp NC_000011.10:121158061:C:G p.(Cys1828Trp) NC_000011.10:121158061:C:G p.(Cys1828Trp) NC_000011.10:121158061:C:G Identity +NM_000363.5:c.370G>C NP_000354.4:p.Glu124Gln NC_000019.10:55154742:C:G p.(Glu124Gln) NC_000019.10:55154742:C:G p.(Glu124Gln) NC_000019.10:55154742:C:G Identity +NM_001256850.1:c.66029T>G NP_001243779.1:p.Ile22010Ser NC_000002.12:178575179:A:C p.(Ile22010Ser) NC_000002.12:178575179:A:C p.(Ile22010Ser) NC_000002.12:178575179:A:C Identity +NM_133378.4:c.45854C>G NP_596869.4:p.Pro15285Arg NC_000002.12:178607043:G:C p.(Pro15285Arg) NC_000002.12:178607043:G:C p.(Pro15285Arg) NC_000002.12:178607043:G:C Identity +NM_000257.4:c.2678C>T NP_000248.2:p.Ala893Val NC_000014.9:23424769:G:A p.(Ala893Val) NC_000014.9:23424769:G:A p.(Ala893Val) NC_000014.9:23424769:G:A Identity +NM_000521.4:c.1601G>T NP_000512.2:p.Cys534Phe NC_000005.10:74720734:G:T p.(Cys534Phe) NC_000005.10:74720734:G:T p.(Cys534Phe) NC_000005.10:74720734:G:T Identity +NM_003373.4:c.2672G>C NP_003364.1:p.Gly891Ala NC_000010.11:74109082:G:C p.(Gly891Ala) NC_000010.11:74109082:G:C p.(Gly891Ala) NC_000010.11:74109082:G:C Identity +NM_001145853.1:c.325C>T NP_001139325.1:p.His109Tyr NC_000004.12:6288995:C:T p.(His109Tyr) NC_000004.12:6288995:C:T p.(His109Tyr) NC_000004.12:6288995:C:T Identity +NM_000018.4:c.65C>A NP_000009.1:p.Ser22Ter NC_000017.11:7220123:C:A p.(Ser22Ter) NC_000017.11:7220123:C:A p.(Ser22Ter) NC_000017.11:7220123:C:A Identity +NM_001256850.1:c.25543A>G NP_001243779.1:p.Ile8515Val NC_000002.12:178714163:T:C p.(Ile8515Val) NC_000002.12:178714163:T:C p.(Ile8515Val) NC_000002.12:178714163:T:C Identity +NM_001927.4:c.635G>A NP_001918.3:p.Arg212Gln NC_000002.12:219420150:G:A p.(Arg212Gln) NC_000002.12:219420150:G:A p.(Arg212Gln) NC_000002.12:219420150:G:A Identity +NM_002471.4:c.1702C>T NP_002462.2:p.Arg568Cys NC_000014.9:23398916:G:A p.(Arg568Cys) NC_000014.9:23398916:G:A p.(Arg568Cys) NC_000014.9:23398916:G:A Identity +NM_001035.3:c.1939C>T NP_001026.2:p.Arg647Cys NC_000001.11:237493064:C:T p.(Arg647Cys) NC_000001.11:237493064:C:T p.(Arg647Cys) NC_000001.11:237493064:C:T Identity +NM_005249.5:c.648_655del NP_005240.3:p.Tyr217fs NC_000014.9:28767924:CCTTACTACC:CC p.(Tyr217ArgfsTer235) NC_000014.9:28767924:CCTTACTACC:CC p.(Tyr217ArgfsTer235) NC_000014.9:28767926:TTACTACC: Analogous +NM_133378.4:c.2396C>T NP_596869.4:p.Thr799Met NC_000002.12:178785716:G:A p.(Thr799Met) NC_000002.12:178785716:G:A p.(Thr799Met) NC_000002.12:178785716:G:A Identity +NM_017433.5:c.1643C>A NP_059129.3:p.Pro548His NC_000010.11:26096460:C:A p.(Pro548His) NC_000010.11:26096460:C:A p.(Pro548His) NC_000010.11:26096460:C:A Identity +NM_000256.3:c.3413G>A NP_000247.2:p.Arg1138His NC_000011.10:47332890:C:T p.(Arg1138His) NC_000011.10:47332890:C:T p.(Arg1138His) NC_000011.10:47332890:C:T Identity +NM_000257.4:c.5287G>A NP_000248.2:p.Ala1763Thr NC_000014.9:23415266:C:T p.(Ala1763Thr) NC_000014.9:23415266:C:T p.(Ala1763Thr) NC_000014.9:23415266:C:T Identity +NM_001167962.2:c.89A>G NP_001161434.1:p.Glu30Gly NC_000007.14:103421425:T:C p.(Glu30Gly) NC_000007.14:103421425:T:C p.(Glu30Gly) NC_000007.14:103421425:T:C Identity +NM_002755.4:c.56C>G NP_002746.1:p.Ala19Gly NC_000015.10:66387402:C:G p.(Ala19Gly) NC_000015.10:66387402:C:G p.(Ala19Gly) NC_000015.10:66387402:C:G Identity +NM_133379.5:c.14240A>T NP_596870.2:p.Asp4747Val NC_000002.12:178748159:T:A p.(Asp4747Val) NC_000002.12:178748159:T:A p.(Asp4747Val) NC_000002.12:178748159:T:A Identity +NM_000257.4:c.2692C>G NP_000248.2:p.Leu898Val NC_000014.9:23424136:G:C p.(Leu898Val) NC_000014.9:23424136:G:C p.(Leu898Val) NC_000014.9:23424136:G:C Identity +NM_001035.3:c.9619A>G NP_001026.2:p.Asn3207Asp NC_000001.11:237706986:A:G p.(Asn3207Asp) NC_000001.11:237706986:A:G p.(Asn3207Asp) NC_000001.11:237706986:A:G Identity +NM_001256850.1:c.70581T>G NP_001243779.1:p.Ser23527Arg NC_000002.12:178570627:A:C p.(Ser23527Arg) NC_000002.12:178570627:A:C p.(Ser23527Arg) NC_000002.12:178570627:A:C Identity +NM_133378.4:c.43165A>G NP_596869.4:p.Ile14389Val NC_000002.12:178611259:T:C p.(Ile14389Val) NC_000002.12:178611259:T:C p.(Ile14389Val) NC_000002.12:178611259:T:C Identity +NM_001256850.1:c.42005A>G NP_001243779.1:p.His14002Arg NC_000002.12:178618621:T:C p.(His14002Arg) NC_000002.12:178618621:T:C p.(His14002Arg) NC_000002.12:178618621:T:C Identity +NM_001080413.3:c.907C>T NP_001073882.3:p.Arg303Ter NC_000007.14:144400249:G:A p.(Arg303Ter) NC_000007.14:144400249:G:A p.(Arg303Ter) NC_000007.14:144400249:G:A Identity +NM_001080413.3:c.349C>T NP_001073882.3:p.Arg117Trp NC_000007.14:144401540:G:A p.(Arg117Trp) NC_000007.14:144401540:G:A p.(Arg117Trp) NC_000007.14:144401540:G:A Identity +NM_001256850.1:c.60806T>C NP_001243779.1:p.Ile20269Thr NC_000002.12:178583073:A:G p.(Ile20269Thr) NC_000002.12:178583073:A:G p.(Ile20269Thr) NC_000002.12:178583073:A:G Identity +NM_001256850.1:c.37133G>A NP_001243779.1:p.Arg12378His NC_000002.12:178634817:C:T p.(Arg12378His) NC_000002.12:178634817:C:T p.(Arg12378His) NC_000002.12:178634817:C:T Identity +NM_001171930.2:c.137C>A NP_001165401.1:p.Thr46Lys NC_000010.11:71446386:C:A p.(Thr46Lys) NC_000010.11:71446386:C:A p.(Thr46Lys) NC_000010.11:71446386:C:A Identity +NM_006393.3:c.1496T>G NP_006384.1:p.Met499Arg NC_000010.11:20831536:A:C p.(Met499Arg) NC_000010.11:20831536:A:C p.(Met499Arg) NC_000010.11:20831536:A:C Identity +NM_000260.4:c.3659C>T NP_000251.3:p.Pro1220Leu NC_000011.10:77190047:C:T p.(Pro1220Leu) NC_000011.10:77190047:C:T p.(Pro1220Leu) NC_000011.10:77190047:C:T Identity +NM_001171930.2:c.385G>A NP_001165401.1:p.Ala129Thr NC_000010.11:71511167:G:A p.(Ala129Thr) NC_000010.11:71511167:G:A p.(Ala129Thr) NC_000010.11:71511167:G:A Identity +NM_001321038.2:c.593G>A NP_001307967.1:p.Arg198Gln NC_000001.11:108898676:G:A p.(Arg198Gln) NC_000001.11:108898676:G:A p.(Arg198Gln) NC_000001.11:108898676:G:A Identity +NM_001142763.2:c.5635A>G NP_001136235.1:p.Lys1879Glu NC_000010.11:53822111:T:C p.(Lys1879Glu) NC_000010.11:53822111:T:C p.(Lys1879Glu) NC_000010.11:53822111:T:C Identity +NM_001256317.3:c.957G>C NP_001243246.1:p.Met319Ile NC_000021.9:42380207:C:G p.(Met319Ile) NC_000021.9:42380207:C:G p.(Met319Ile) NC_000021.9:42380207:C:G Identity +NM_206933.4:c.11734G>A NP_996816.3:p.Glu3912Lys NC_000001.11:215728361:C:T p.(Glu3912Lys) NC_000001.11:215728361:C:T p.(Glu3912Lys) NC_000001.11:215728361:C:T Identity +NM_000256.3:c.3372C>A NP_000247.2:p.Cys1124Ter NC_000011.10:47332931:G:T p.(Cys1124Ter) NC_000011.10:47332931:G:T p.(Cys1124Ter) NC_000011.10:47332931:G:T Identity +NM_133378.4:c.30940C>T NP_596869.4:p.Pro10314Ser NC_000002.12:178672646:G:A p.(Pro10314Ser) NC_000002.12:178672646:G:A p.(Pro10314Ser) NC_000002.12:178672646:G:A Identity +NM_133378.4:c.18248C>T NP_596869.4:p.Thr6083Met NC_000002.12:178722918:G:A p.(Thr6083Met) NC_000002.12:178722918:G:A p.(Thr6083Met) NC_000002.12:178722918:G:A Identity +NM_016239.4:c.5851del NP_057323.3:p.Ser1951fs NC_000017.11:18142780:A: p.(Ser1951ValfsTer3) NC_000017.11:18142780:A: p.(Ser1951ValfsTer3) NC_000017.11:18142780:A: Analogous +NM_001256850.1:c.10387G>A NP_001243779.1:p.Glu3463Lys NC_000002.12:178741894:C:T p.(Glu3463Lys) NC_000002.12:178741894:C:T p.(Glu3463Lys) NC_000002.12:178741894:C:T Identity +NM_001943.5:c.1487dup NP_001934.2:p.Cys496fs NC_000018.10:31536264:G:GG p.(Cys496TrpfsTer40) NC_000018.10:31536264:G:GG p.(Cys496TrpfsTer40) ERR:SPDI Analogous +NM_000363.5:c.559G>A NP_000354.4:p.Glu187Lys NC_000019.10:55151907:C:T p.(Glu187Lys) NC_000019.10:55151907:C:T p.(Glu187Lys) NC_000019.10:55151907:C:T Identity +NM_001128175.2:c.953C>A NP_001121647.1:p.Pro318His NC_000018.10:34820866:C:A p.(Pro318His) NC_000018.10:34820866:C:A p.(Pro318His) NC_000018.10:34820866:C:A Identity +NM_001035.3:c.308A>C NP_001026.2:p.Lys103Thr NC_000001.11:237364370:A:C p.(Lys103Thr) NC_000001.11:237364370:A:C p.(Lys103Thr) NC_000001.11:237364370:A:C Identity +NM_133378.4:c.82135C>T NP_596869.4:p.Arg27379Ter NC_000002.12:178553060:G:A p.(Arg27379Ter) NC_000002.12:178553060:G:A p.(Arg27379Ter) NC_000002.12:178553060:G:A Identity +NM_206933.4:c.14332G>T NP_996816.3:p.Ala4778Ser NC_000001.11:215650602:C:A p.(Ala4778Ser) NC_000001.11:215650602:C:A p.(Ala4778Ser) NC_000001.11:215650602:C:A Identity +NM_001103.4:c.1460G>T NP_001094.1:p.Cys487Phe NC_000001.11:236747719:G:T p.(Cys487Phe) NC_000001.11:236747719:G:T p.(Cys487Phe) NC_000001.11:236747719:G:T Identity +NM_001282489.3:c.703G>A NP_001269418.1:p.Gly235Arg NC_000017.11:74919823:C:T p.(Gly235Arg) NC_000017.11:74919823:C:T p.(Gly235Arg) NC_000017.11:74919823:C:T Identity +NM_016239.4:c.6796G>A NP_057323.3:p.Val2266Met NC_000017.11:18148791:G:A p.(Val2266Met) NC_000017.11:18148791:G:A p.(Val2266Met) NC_000017.11:18148791:G:A Identity +NM_212550.5:c.92C>T NP_997715.1:p.Ala31Val NC_000019.10:45179387:C:T p.(Ala31Val) NC_000019.10:45179387:C:T p.(Ala31Val) NC_000019.10:45179387:C:T Identity +NM_000384.3:c.6636TGA[1] NP_000375.3:p.Asp2213del NC_000002.12:21010226:TCATCA:TCA p.(Asp2213del) NC_000002.12:21010231:A:TCA ERR:Parse ERR:Parse Identity +NM_000393.5:c.2011C>T NP_000384.2:p.Pro671Ser NC_000002.12:189061581:G:A p.(Pro671Ser) NC_000002.12:189061581:G:A p.(Pro671Ser) NC_000002.12:189061581:G:A Identity +NM_133378.4:c.41592_41611del NP_596869.4:p.Val13865fs NC_000002.12:178614081:CCTGAACTGGTTCACCAACACC:CC p.(Val13865LeufsTer10) NC_000002.12:178614081:CCTGAACTGGTTCACCAACACC:CC p.(Val13865LeufsTer10) NC_000002.12:178614081:CCTGAACTGGTTCACCAACA: Analogous +NM_000257.4:c.167G>C NP_000248.2:p.Gly56Ala NC_000014.9:23433565:C:G p.(Gly56Ala) NC_000014.9:23433565:C:G p.(Gly56Ala) NC_000014.9:23433565:C:G Identity +NM_001256850.1:c.57107T>C NP_001243779.1:p.Ile19036Thr NC_000002.12:178589694:A:G p.(Ile19036Thr) NC_000002.12:178589694:A:G p.(Ile19036Thr) NC_000002.12:178589694:A:G Identity +NM_001256850.1:c.48200A>T NP_001243779.1:p.Lys16067Ile NC_000002.12:178607564:T:A p.(Lys16067Ile) NC_000002.12:178607564:T:A p.(Lys16067Ile) NC_000002.12:178607564:T:A Identity +NM_022124.6:c.4276G>A NP_071407.4:p.Val1426Ile NC_000010.11:71738563:G:A p.(Val1426Ile) NC_000010.11:71738563:G:A p.(Val1426Ile) NC_000010.11:71738563:G:A Identity +NM_032119.4:c.9590T>C NP_115495.3:p.Leu3197Ser NC_000005.10:90720189:T:C p.(Leu3197Ser) NC_000005.10:90720189:T:C p.(Leu3197Ser) NC_000005.10:90720189:T:C Identity +NM_001173425.2:c.725G>A NP_001166896.1:p.Arg242His NC_000009.12:114478664:C:T p.(Arg242His) NC_000009.12:114478664:C:T p.(Arg242His) NC_000009.12:114478664:C:T Identity +NM_001039492.3:c.284A>G NP_001034581.1:p.Asn95Ser NC_000002.12:105373605:T:C p.(Asn95Ser) NC_000002.12:105373605:T:C p.(Asn95Ser) NC_000002.12:105373605:T:C Identity +NM_001171930.2:c.3028C>A NP_001165401.1:p.Arg1010Ser NC_000010.11:71706970:C:A p.(Arg1010Ser) NC_000010.11:71706970:C:A p.(Arg1010Ser) NC_000010.11:71706970:C:A Identity +NM_133378.4:c.84175A>G NP_596869.4:p.Ile28059Val NC_000002.12:178549842:T:C p.(Ile28059Val) NC_000002.12:178549842:T:C p.(Ile28059Val) NC_000002.12:178549842:T:C Identity +NM_003373.4:c.2959C>T NP_003364.1:p.Arg987Ter NC_000010.11:74114803:C:T p.(Arg987Ter) NC_000010.11:74114803:C:T p.(Arg987Ter) NC_000010.11:74114803:C:T Identity +NM_001377273.1:c.395A>G NP_001364202.1:p.Lys132Arg NC_000012.12:21925952:T:C p.(Lys132Arg) NC_000012.12:21925952:T:C p.(Lys132Arg) NC_000012.12:21925952:T:C Identity +NM_000256.3:c.3190G>A NP_000247.2:p.Asp1064Asn NC_000011.10:47333556:C:T p.(Asp1064Asn) NC_000011.10:47333556:C:T p.(Asp1064Asn) NC_000011.10:47333556:C:T Identity +NM_001352773.2:c.1909C>T NP_001339702.1:p.Arg637Cys NC_000017.11:41757648:G:A p.(Arg637Cys) NC_000017.11:41757648:G:A p.(Arg637Cys) NC_000017.11:41757648:G:A Identity +NM_001300899.2:c.2898AGA[3] NP_001287828.1:p.Glu970del NC_000006.12:75891256:AAGAAGAAGAAGA:AAGAAGAAGA p.(Glu970del) NC_000006.12:75891257:A:AGAAGAAGA ERR:Parse ERR:Parse Identity +NM_001256850.1:c.36484G>A NP_001243779.1:p.Glu12162Lys NC_000002.12:178636163:C:T p.(Glu12162Lys) NC_000002.12:178636163:C:T p.(Glu12162Lys) NC_000002.12:178636163:C:T Identity +NM_001035.3:c.5639A>T NP_001026.2:p.Glu1880Val NC_000001.11:237614766:A:T p.(Glu1880Val) NC_000001.11:237614766:A:T p.(Glu1880Val) NC_000001.11:237614766:A:T Identity +LRG_1382t1:c.1221A>C LRG_1382p1:p.Arg407Ser NC_000003.12:191380910:A:C ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found ERR:AlignmentMapper(tx_ac=LRG_1382t1, alt_ac=LRG_1382t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1382t1, alt_ac=LRG_1382t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found +NM_002294.3:c.1142T>C NP_002285.1:p.Val381Ala NC_000023.11:120431413:A:G p.(Val381Ala) NC_000023.11:120431413:A:G p.(Val381Ala) NC_000023.11:120431413:A:G Identity +NM_001301339.2:c.172G>C NP_001288268.1:p.Gly58Arg NC_000022.11:23767462:C:G p.(Gly58Arg) NC_000022.11:23767462:C:G p.(Gly58Arg) NC_000022.11:23767462:C:G Identity +NM_004415.4:c.4915G>A NP_004406.2:p.Val1639Met NC_000006.12:7581104:G:A p.(Val1639Met) NC_000006.12:7581104:G:A p.(Val1639Met) NC_000006.12:7581104:G:A Identity +NM_001287489.2:c.1930G>A NP_001274418.1:p.Val644Ile NC_000002.12:26479635:C:T p.(Val644Ile) NC_000002.12:26479635:C:T p.(Val644Ile) NC_000002.12:26479635:C:T Identity +LRG_386t1:c.2543C>G LRG_386p1:p.Ala848Gly NC_000011.10:47337449:G:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +LRG_386t1:c.495G>C LRG_386p1:p.Glu165Asp NC_000011.10:47350023:C:G ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +LRG_386t1:c.727A>C LRG_386p1:p.Thr243Pro NC_000011.10:47348468:T:G ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001134363.3:c.2089G>A NP_001127835.2:p.Gly697Arg NC_000010.11:110812485:G:A p.(Gly697Arg) NC_000010.11:110812485:G:A p.(Gly697Arg) NC_000010.11:110812485:G:A Identity +NM_001256850.1:c.98676_98679del NP_001243779.1:p.Arg32893fs NC_000002.12:178533012:TCTCTC:TC p.(Arg32893AsnfsTer19) NC_000002.12:178533012:TCTCTC:TC p.(Arg32893AsnfsTer19) NC_000002.12:178533012:TCTC: Analogous +NM_000257.4:c.1627G>A NP_000248.2:p.Ala543Thr NC_000014.9:23427845:C:T p.(Ala543Thr) NC_000014.9:23427845:C:T p.(Ala543Thr) NC_000014.9:23427845:C:T Identity +NM_133378.4:c.87577G>A NP_596869.4:p.Glu29193Lys NC_000002.12:178545954:C:T p.(Glu29193Lys) NC_000002.12:178545954:C:T p.(Glu29193Lys) NC_000002.12:178545954:C:T Identity +NM_000216.4:c.1369C>T NP_000207.2:p.Arg457Ter NC_000023.11:8539743:G:A p.(Arg457Ter) NC_000023.11:8539743:G:A p.(Arg457Ter) NC_000023.11:8539743:G:A Identity +NM_144773.4:c.563C>T NP_658986.1:p.Ser188Leu NC_000020.11:5302631:G:A p.(Ser188Leu) NC_000020.11:5302631:G:A p.(Ser188Leu) NC_000020.11:5302631:G:A Identity +NM_015384.5:c.4321G>T NP_056199.2:p.Val1441Leu NC_000005.10:37008622:G:T p.(Val1441Leu) NC_000005.10:37008622:G:T p.(Val1441Leu) NC_000005.10:37008622:G:T Identity +NM_005430.4:c.1026del NP_005421.1:p.Glu343fs NC_000012.12:48981551:CC:C p.(Glu343SerfsTer50) NC_000012.12:48981551:CC:C p.(Glu343SerfsTer50) NC_000012.12:48981552:C: Analogous +NM_000257.4:c.4079T>C NP_000248.2:p.Val1360Ala NC_000014.9:23418299:A:G p.(Val1360Ala) NC_000014.9:23418299:A:G p.(Val1360Ala) NC_000014.9:23418299:A:G Identity +NM_000257.4:c.2555T>A NP_000248.2:p.Met852Lys NC_000014.9:23424892:A:T p.(Met852Lys) NC_000014.9:23424892:A:T p.(Met852Lys) NC_000014.9:23424892:A:T Identity +NM_001234.5:c.287C>G NP_001225.1:p.Ser96Cys NC_000003.12:8745697:C:G p.(Ser96Cys) NC_000003.12:8745697:C:G p.(Ser96Cys) NC_000003.12:8745697:C:G Identity +NM_001122606.1:c.715C>G NP_001116078.1:p.Leu239Val NC_000023.11:120447866:G:C p.(Leu239Val) NC_000023.11:120447866:G:C p.(Leu239Val) NC_000023.11:120447866:G:C Identity +NM_030662.4:c.806C>T NP_109587.1:p.Pro269Leu NC_000019.10:4099313:G:A p.(Pro269Leu) NC_000019.10:4099313:G:A p.(Pro269Leu) NC_000019.10:4099313:G:A Identity +LRG_386t1:c.1859G>T LRG_386p1:p.Gly620Val NC_000011.10:47341175:C:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_005159.5:c.56_57insCA NP_005150.1:p.Lys20fs NC_000015.10:34794752::TG p.(Lys20ArgfsTer38) NC_000015.10:34794751:C:TG p.(Lys20ArgfsTer38) NC_000015.10:34794752:CA:TG Analogous +LRG_386t1:c.1829A>T LRG_386p1:p.Asp610Val NC_000011.10:47341205:T:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001127384.3:c.35A>T NP_001120856.1:p.Asp12Val NC_000010.11:67647478:T:A p.(Asp12Val) NC_000010.11:67647478:T:A p.(Asp12Val) NC_000010.11:67647478:T:A Identity +NM_001127384.3:c.457G>C NP_001120856.1:p.Ala153Pro NC_000010.11:67539504:C:G p.(Ala153Pro) NC_000010.11:67539504:C:G p.(Ala153Pro) NC_000010.11:67539504:C:G Identity +NM_001330437.2:c.893A>G NP_001317366.1:p.Asn298Ser NC_000012.12:112477689:A:G p.(Asn298Ser) NC_000012.12:112477689:A:G p.(Asn298Ser) NC_000012.12:112477689:A:G Identity +LRG_386t1:c.653A>G LRG_386p1:p.Lys218Arg NC_000011.10:47349774:T:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +LRG_386t1:c.521_523del LRG_386p1:p.Phe174del NC_000011.10:47349904:AGAAG:AG ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000256.3:c.3752A>G NP_000247.2:p.Tyr1251Cys NC_000011.10:47332133:T:C p.(Tyr1251Cys) NC_000011.10:47332133:T:C p.(Tyr1251Cys) NC_000011.10:47332133:T:C Identity +LRG_386t1:c.3472_3481del LRG_386p1:p.Val1158fs NC_000011.10:47332822:GGATAAAGACGG:GG ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_030662.4:c.1180A>T NP_109587.1:p.Thr394Ser NC_000019.10:4090620:T:A p.(Thr394Ser) NC_000019.10:4090620:T:A p.(Thr394Ser) NC_000019.10:4090620:T:A Identity +LRG_386t1:c.722dup LRG_386p1:p.Ser242fs NC_000011.10:47348473:A:AA ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000257.4:c.5530G>A NP_000248.2:p.Glu1844Lys NC_000014.9:23415023:C:T p.(Glu1844Lys) NC_000014.9:23415023:C:T p.(Glu1844Lys) NC_000014.9:23415023:C:T Identity +NM_000257.4:c.1051A>G NP_000248.2:p.Lys351Glu NC_000014.9:23429861:T:C p.(Lys351Glu) NC_000014.9:23429861:T:C p.(Lys351Glu) NC_000014.9:23429861:T:C Identity +NM_000271.5:c.1937G>A NP_000262.2:p.Arg646His NC_000018.10:23544969:C:T p.(Arg646His) NC_000018.10:23544969:C:T p.(Arg646His) NC_000018.10:23544969:C:T Identity +NM_000364.4:c.697G>A NP_000355.2:p.Glu233Lys NC_000001.11:201361925:C:T p.(Glu233Lys) NC_000001.11:201361925:C:T p.(Glu233Lys) NC_000001.11:201361925:C:T Identity +NM_000366.6:c.154G>A NP_000357.3:p.Gly52Ser NC_000015.10:63044065:G:A p.(Gly52Ser) NC_000015.10:63044065:G:A p.(Gly52Ser) NC_000015.10:63044065:G:A Identity +NM_000366.6:c.25C>A NP_000357.3:p.Gln9Lys NC_000015.10:63042853:C:A p.(Gln9Lys) NC_000015.10:63042853:C:A p.(Gln9Lys) NC_000015.10:63042853:C:A Identity +NM_000059.4:c.6567C>A NP_000050.3:p.Asn2189Lys NC_000013.11:32340921:C:A p.(Asn2189Lys) NC_000013.11:32340921:C:A p.(Asn2189Lys) NC_000013.11:32340921:C:A Identity +NM_000059.4:c.9290G>A NP_000050.3:p.Cys3097Tyr NC_000013.11:32394721:G:A p.(Cys3097Tyr) NC_000013.11:32394721:G:A p.(Cys3097Tyr) NC_000013.11:32394721:G:A Identity +NM_000059.4:c.1094C>T NP_000050.3:p.Pro365Leu NC_000013.11:32332571:C:T p.(Pro365Leu) NC_000013.11:32332571:C:T p.(Pro365Leu) NC_000013.11:32332571:C:T Identity +NM_032043.3:c.1000G>T NP_114432.2:p.Ala334Ser NC_000017.11:61801392:C:A p.(Ala334Ser) NC_000017.11:61801392:C:A p.(Ala334Ser) NC_000017.11:61801392:C:A Identity +NM_032043.3:c.1066C>T NP_114432.2:p.Arg356Ter NC_000017.11:61801326:G:A p.(Arg356Ter) NC_000017.11:61801326:G:A p.(Arg356Ter) NC_000017.11:61801326:G:A Identity +NM_000038.6:c.5263G>T NP_000029.2:p.Ala1755Ser NC_000005.10:112840856:G:T p.(Ala1755Ser) NC_000005.10:112840856:G:T p.(Ala1755Ser) NC_000005.10:112840856:G:T Identity +NM_001382394.1:c.3391A>G NP_001369323.1:p.Ile1131Val NC_000002.12:38987570:T:C p.(Ile1131Val) NC_000002.12:38987570:T:C p.(Ile1131Val) NC_000002.12:38987570:T:C Identity +NM_001048171.2:c.307T>A NP_001041636.2:p.Trp103Arg NC_000001.11:45333167:A:T p.(Trp103Arg) NC_000001.11:45333167:A:T p.(Trp103Arg) NC_000001.11:45333167:A:T Identity +NM_001024688.3:c.1097A>T NP_001019859.1:p.Gln366Leu NC_000008.11:89955336:T:A p.(Gln366Leu) NC_000008.11:89955336:T:A p.(Gln366Leu) NC_000008.11:89955336:T:A Identity +NM_000546.6:c.524G>T NP_000537.3:p.Arg175Leu NC_000017.11:7675087:C:A p.(Arg175Leu) NC_000017.11:7675087:C:A p.(Arg175Leu) NC_000017.11:7675087:C:A Identity +NM_000059.4:c.6140A>G NP_000050.3:p.Tyr2047Cys NC_000013.11:32340494:A:G p.(Tyr2047Cys) NC_000013.11:32340494:A:G p.(Tyr2047Cys) NC_000013.11:32340494:A:G Identity +NM_032043.3:c.1560T>A NP_114432.2:p.Ser520Arg NC_000017.11:61784337:A:T p.(Ser520Arg) NC_000017.11:61784337:A:T p.(Ser520Arg) NC_000017.11:61784337:A:T Identity +NM_000249.4:c.862A>G NP_000240.1:p.Thr288Ala NC_000003.12:37017576:A:G p.(Thr288Ala) NC_000003.12:37017576:A:G p.(Thr288Ala) NC_000003.12:37017576:A:G Identity +NM_000051.4:c.4400A>G NP_000042.3:p.Asp1467Gly NC_000011.10:108289764:A:G p.(Asp1467Gly) NC_000011.10:108289764:A:G p.(Asp1467Gly) NC_000011.10:108289764:A:G Identity +NM_001100112.2:c.2400del NP_001093582.1:p.Phe801fs NC_000017.11:10533325:CCC:CC p.(Phe801SerfsTer28) NC_000017.11:10533325:CCC:CC p.(Phe801SerfsTer28) NC_000017.11:10533325:C: Analogous +NM_001317184.2:c.373C>T NP_001304113.1:p.Pro125Ser NC_000016.10:68801878:C:T p.(Pro125Ser) NC_000016.10:68801878:C:T p.(Pro125Ser) NC_000016.10:68801878:C:T Identity +LRG_216t1:c.2110dup LRG_216p1:p.Val704fs NC_000003.12:37050491:G:GG ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_216t1 not found +NM_000249.4:c.976G>A NP_000240.1:p.Val326Met NC_000003.12:37020400:G:A p.(Val326Met) NC_000003.12:37020400:G:A p.(Val326Met) NC_000003.12:37020400:G:A Identity +NM_024675.4:c.948del NP_078951.2:p.Thr317fs NC_000016.10:23635597:GGG:GG p.(Thr317GlnfsTer5) NC_000016.10:23635597:GGG:GG p.(Thr317GlnfsTer5) NC_000016.10:23635597:G: Analogous +NM_032043.3:c.1156A>T NP_114432.2:p.Lys386Ter NC_000017.11:61799283:T:A p.(Lys386Ter) NC_000017.11:61799283:T:A p.(Lys386Ter) NC_000017.11:61799283:T:A Identity +NM_000136.3:c.967G>A NP_000127.2:p.Val323Ile NC_000009.12:95125114:C:T p.(Val323Ile) NC_000009.12:95125114:C:T p.(Val323Ile) NC_000009.12:95125114:C:T Identity +NM_000455.5:c.976C>A NP_000446.1:p.Pro326Thr NC_000019.10:1223039:C:A p.(Pro326Thr) NC_000019.10:1223039:C:A p.(Pro326Thr) NC_000019.10:1223039:C:A Identity +NM_000535.7:c.215G>A NP_000526.2:p.Gly72Glu NC_000007.14:6004006:C:T p.(Gly72Glu) NC_000007.14:6004006:C:T p.(Gly72Glu) NC_000007.14:6004006:C:T Identity +NM_001142571.2:c.423del NP_001136043.1:p.Ala142fs NC_000017.11:35107104:T: p.(Ala142GlnfsTer14) NC_000017.11:35107104:T: p.(Ala142GlnfsTer14) NC_000017.11:35107104:T: Analogous +NM_000251.3:c.749G>T NP_000242.1:p.Gly250Val NC_000002.12:47412516:G:T p.(Gly250Val) NC_000002.12:47412516:G:T p.(Gly250Val) NC_000002.12:47412516:G:T Identity +NM_000251.3:c.791A>G NP_000242.1:p.Gln264Arg NC_000002.12:47412558:A:G p.(Gln264Arg) NC_000002.12:47412558:A:G p.(Gln264Arg) NC_000002.12:47412558:A:G Identity +NM_000179.3:c.1052A>G NP_000170.1:p.His351Arg NC_000002.12:47799034:A:G p.(His351Arg) NC_000002.12:47799034:A:G p.(His351Arg) NC_000002.12:47799034:A:G Identity +NM_001024688.3:c.277G>A NP_001019859.1:p.Glu93Lys NC_000008.11:89978280:C:T p.(Glu93Lys) NC_000008.11:89978280:C:T p.(Glu93Lys) NC_000008.11:89978280:C:T Identity +NM_024675.4:c.2106A>G NP_078951.2:p.Ile702Met NC_000016.10:23630047:T:C p.(Ile702Met) NC_000016.10:23630047:T:C p.(Ile702Met) NC_000016.10:23630047:T:C Identity +NM_000535.7:c.1559C>T NP_000526.2:p.Ala520Val NC_000007.14:5987205:G:A p.(Ala520Val) NC_000007.14:5987205:G:A p.(Ala520Val) NC_000007.14:5987205:G:A Identity +NM_005431.2:c.115G>A NP_005422.1:p.Val39Met NC_000007.14:152660706:C:T p.(Val39Met) NC_000007.14:152660706:C:T p.(Val39Met) NC_000007.14:152660706:C:T Identity +NM_001999.4:c.1064G>A NP_001990.2:p.Gly355Asp NC_000005.10:128408687:C:T p.(Gly355Asp) NC_000005.10:128408687:C:T p.(Gly355Asp) NC_000005.10:128408687:C:T Identity +NM_024675.4:c.2453T>C NP_078951.2:p.Phe818Ser NC_000016.10:23629700:A:G p.(Phe818Ser) NC_000016.10:23629700:A:G p.(Phe818Ser) NC_000016.10:23629700:A:G Identity +LRG_319t1:c.275A>G LRG_319p1:p.Glu92Gly NC_000019.10:1207187:A:G ERR:Data provider error: ValueError: Transcript LRG_319t1 not found ERR:Data provider error: ValueError: Transcript LRG_319t1 not found ERR:AlignmentMapper(tx_ac=LRG_319t1, alt_ac=LRG_319t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_319t1, alt_ac=LRG_319t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_319t1 not found +NM_000546.6:c.607G>A NP_000537.3:p.Val203Met NC_000017.11:7674923:C:T p.(Val203Met) NC_000017.11:7674923:C:T p.(Val203Met) NC_000017.11:7674923:C:T Identity +NM_000038.6:c.4824_4827delinsTAC NP_000029.2:p.Lys1608fs NC_000005.10:112840417:ACCA:TAC p.(Pro1609TyrfsTer41) NC_000005.10:112840416:AACCAA:AATAC p.(Lys1608AsnfsTer42) NC_000005.10:112840417:ACCA:TAC Analogous +NM_000059.4:c.5120C>T NP_000050.3:p.Thr1707Ile NC_000013.11:32339474:C:T p.(Thr1707Ile) NC_000013.11:32339474:C:T p.(Thr1707Ile) NC_000013.11:32339474:C:T Identity +NM_001362843.2:c.4855C>T NP_001349772.1:p.Arg1619Ter NC_000022.11:41176399:C:T p.(Arg1619Ter) NC_000022.11:41176399:C:T p.(Arg1619Ter) NC_000022.11:41176399:C:T Identity +NM_000455.5:c.1180G>A NP_000446.1:p.Gly394Ser NC_000019.10:1226524:G:A p.(Gly394Ser) NC_000019.10:1226524:G:A p.(Gly394Ser) NC_000019.10:1226524:G:A Identity +NM_001354898.2:c.1218G>A NP_001341827.1:p.Met406Ile NC_000005.10:112819324:G:A p.(Met406Ile) NC_000005.10:112819324:G:A p.(Met406Ile) NC_000005.10:112819324:G:A Identity +NM_000051.4:c.4853G>A NP_000042.3:p.Arg1618Gln NC_000011.10:108295002:G:A p.(Arg1618Gln) NC_000011.10:108295002:G:A p.(Arg1618Gln) NC_000011.10:108295002:G:A Identity +NM_058216.3:c.621T>A NP_478123.1:p.His207Gln NC_000017.11:58703244:T:A p.(His207Gln) NC_000017.11:58703244:T:A p.(His207Gln) NC_000017.11:58703244:T:A Identity +NM_024678.6:c.641C>T NP_078954.4:p.Pro214Leu NC_000011.10:78528889:G:A p.(Pro214Leu) NC_000011.10:78528889:G:A p.(Pro214Leu) NC_000011.10:78528889:G:A Identity +NM_000086.2:c.494G>A NP_000077.1:p.Gly165Glu NC_000016.10:28486616:C:T p.(Gly165Glu) NC_000016.10:28486616:C:T p.(Gly165Glu) NC_000016.10:28486616:C:T Identity +NM_000059.4:c.6724G>A NP_000050.3:p.Asp2242Asn NC_000013.11:32341078:G:A p.(Asp2242Asn) NC_000013.11:32341078:G:A p.(Asp2242Asn) NC_000013.11:32341078:G:A Identity +NM_000179.3:c.4062_4065dup NP_000170.1:p.Leu1356fs NC_000002.12:47806836:CTGACT:CTGACTGACT p.(Leu1356AspfsTer4) NC_000002.12:47806836:CTGACT:CTGACTGACT p.(Leu1356AspfsTer4) ERR:SPDI Analogous +NM_000051.4:c.513C>G NP_000042.3:p.Tyr171Ter NC_000011.10:108243968:C:G p.(Tyr171Ter) NC_000011.10:108243968:C:G p.(Tyr171Ter) NC_000011.10:108243968:C:G Identity +LRG_219t1:c.659A>C LRG_219p1:p.Glu220Ala NC_000002.12:47798641:A:C ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_219t1 not found +NM_000051.4:c.508G>T NP_000042.3:p.Val170Leu NC_000011.10:108243963:G:T p.(Val170Leu) NC_000011.10:108243963:G:T p.(Val170Leu) NC_000011.10:108243963:G:T Identity +NM_000314.8:c.42del NP_000305.3:p.Arg15fs NC_000010.11:87864509:GG:G p.(Arg15AspfsTer9) NC_000010.11:87864509:GG:G p.(Arg15AspfsTer9) NC_000010.11:87864510:G: Analogous +NM_001024688.3:c.56T>C NP_001019859.1:p.Val19Ala NC_000008.11:89981392:A:G p.(Val19Ala) NC_000008.11:89981392:A:G p.(Val19Ala) NC_000008.11:89981392:A:G Identity +NM_000249.4:c.1514G>A NP_000240.1:p.Ser505Asn NC_000003.12:37028887:G:A p.(Ser505Asn) NC_000003.12:37028887:G:A p.(Ser505Asn) NC_000003.12:37028887:G:A Identity +NM_000249.4:c.1890dup NP_000240.1:p.Asp631Ter NC_000003.12:37047675:TT:TTT p.(Asp631Ter) NC_000003.12:37047675:TT:TTT p.(Asp631Ter) ERR:SPDI Identity +NM_000077.5:c.209C>G NP_000068.1:p.Pro70Arg NC_000009.12:21971149:G:C p.(Pro70Arg) NC_000009.12:21971149:G:C p.(Pro70Arg) NC_000009.12:21971149:G:C Identity +NM_000535.7:c.1394A>G NP_000526.2:p.Lys465Arg NC_000007.14:5987370:T:C p.(Lys465Arg) NC_000007.14:5987370:T:C p.(Lys465Arg) NC_000007.14:5987370:T:C Identity +NM_000051.4:c.3780dup NP_000042.3:p.Ile1261fs NC_000011.10:108284259:G:GG p.(Ile1261AspfsTer2) NC_000011.10:108284259:G:GG p.(Ile1261AspfsTer2) ERR:SPDI Analogous +NM_000038.6:c.5441A>G NP_000029.2:p.Gln1814Arg NC_000005.10:112841034:A:G p.(Gln1814Arg) NC_000005.10:112841034:A:G p.(Gln1814Arg) NC_000005.10:112841034:A:G Identity +NM_000059.4:c.4546A>C NP_000050.3:p.Ile1516Leu NC_000013.11:32338900:A:C p.(Ile1516Leu) NC_000013.11:32338900:A:C p.(Ile1516Leu) NC_000013.11:32338900:A:C Identity +NM_004329.3:c.383A>G NP_004320.2:p.Asn128Ser NC_000010.11:86899842:A:G p.(Asn128Ser) NC_000010.11:86899842:A:G p.(Asn128Ser) NC_000010.11:86899842:A:G Identity +NM_000059.4:c.10226A>G NP_000050.3:p.Gln3409Arg NC_000013.11:32398738:A:G p.(Gln3409Arg) NC_000013.11:32398738:A:G p.(Gln3409Arg) NC_000013.11:32398738:A:G Identity +NM_001142571.2:c.1004G>A NP_001136043.1:p.Gly335Glu NC_000017.11:35100995:C:T p.(Gly335Glu) NC_000017.11:35100995:C:T p.(Gly335Glu) NC_000017.11:35100995:C:T Identity +NM_024675.4:c.1526G>A NP_078951.2:p.Gly509Asp NC_000016.10:23635019:C:T p.(Gly509Asp) NC_000016.10:23635019:C:T p.(Gly509Asp) NC_000016.10:23635019:C:T Identity +NM_000038.6:c.8405C>T NP_000029.2:p.Pro2802Leu NC_000005.10:112843998:C:T p.(Pro2802Leu) NC_000005.10:112843998:C:T p.(Pro2802Leu) NC_000005.10:112843998:C:T Identity +NM_000059.4:c.1660T>G NP_000050.3:p.Cys554Gly NC_000013.11:32333137:T:G p.(Cys554Gly) NC_000013.11:32333137:T:G p.(Cys554Gly) NC_000013.11:32333137:T:G Identity +NM_000245.4:c.2215C>G NP_000236.2:p.Arg739Gly NC_000007.14:116758570:C:G p.(Arg739Gly) NC_000007.14:116758570:C:G p.(Arg739Gly) NC_000007.14:116758570:C:G Identity +NM_001330347.2:c.1586T>G NP_001317276.1:p.Leu529Arg NC_000011.10:94447415:A:C p.(Leu529Arg) NC_000011.10:94447415:A:C p.(Leu529Arg) NC_000011.10:94447415:A:C Identity +NM_024675.4:c.1030A>G NP_078951.2:p.Asn344Asp NC_000016.10:23635515:T:C p.(Asn344Asp) NC_000016.10:23635515:T:C p.(Asn344Asp) NC_000016.10:23635515:T:C Identity +NM_000249.4:c.2107G>C NP_000240.1:p.Glu703Gln NC_000003.12:37050488:G:C p.(Glu703Gln) NC_000003.12:37050488:G:C p.(Glu703Gln) NC_000003.12:37050488:G:C Identity +NM_000051.4:c.2051A>G NP_000042.3:p.Gln684Arg NC_000011.10:108253965:A:G p.(Gln684Arg) NC_000011.10:108253965:A:G p.(Gln684Arg) NC_000011.10:108253965:A:G Identity +NM_001330347.2:c.1445_1446delinsTTAA NP_001317276.1:p.Gln482fs NC_000011.10:94459461:CT:TTAA p.(Gln482LeufsTer43) NC_000011.10:94459461:CT:TTAA p.(Gln482LeufsTer43) NC_000011.10:94459461:CT:TTAA Analogous +NM_000323.2:c.682G>T NP_000314.1:p.Ala228Ser NC_000010.11:43105007:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000051.4:c.4127C>G NP_000042.3:p.Pro1376Arg NC_000011.10:108288993:C:G p.(Pro1376Arg) NC_000011.10:108288993:C:G p.(Pro1376Arg) NC_000011.10:108288993:C:G Identity +NM_000059.4:c.3397C>T NP_000050.3:p.Pro1133Ser NC_000013.11:32337751:C:T p.(Pro1133Ser) NC_000013.11:32337751:C:T p.(Pro1133Ser) NC_000013.11:32337751:C:T Identity +NM_032043.3:c.1362A>C NP_114432.2:p.Glu454Asp NC_000017.11:61793707:T:G p.(Glu454Asp) NC_000017.11:61793707:T:G p.(Glu454Asp) NC_000017.11:61793707:T:G Identity +NM_024675.4:c.2792T>G NP_078951.2:p.Leu931Arg NC_000016.10:23624050:A:C p.(Leu931Arg) NC_000016.10:23624050:A:C p.(Leu931Arg) NC_000016.10:23624050:A:C Identity +NM_000535.7:c.197T>C NP_000526.2:p.Ile66Thr NC_000007.14:6004024:A:G p.(Ile66Thr) NC_000007.14:6004024:A:G p.(Ile66Thr) NC_000007.14:6004024:A:G Identity +NM_001354899.2:c.6173C>G NP_001341828.1:p.Pro2058Arg NC_000005.10:112841850:C:G p.(Pro2058Arg) NC_000005.10:112841850:C:G p.(Pro2058Arg) NC_000005.10:112841850:C:G Identity +NM_000314.8:c.304A>C NP_000305.3:p.Lys102Gln NC_000010.11:87933062:A:C p.(Lys102Gln) NC_000010.11:87933062:A:C p.(Lys102Gln) NC_000010.11:87933062:A:C Identity +NM_000251.3:c.437G>T NP_000242.1:p.Gly146Val NC_000002.12:47410163:G:T p.(Gly146Val) NC_000002.12:47410163:G:T p.(Gly146Val) NC_000002.12:47410163:G:T Identity +NM_032043.3:c.2228A>C NP_114432.2:p.Tyr743Ser NC_000017.11:61744460:T:G p.(Tyr743Ser) NC_000017.11:61744460:T:G p.(Tyr743Ser) NC_000017.11:61744460:T:G Identity +NM_001035512.3:c.278A>G NP_001030589.1:p.His93Arg NC_000001.11:161356814:A:G p.(His93Arg) NC_000001.11:161356814:A:G p.(His93Arg) NC_000001.11:161356814:A:G Identity +NM_000535.7:c.1417G>A NP_000526.2:p.Glu473Lys NC_000007.14:5987347:C:T p.(Glu473Lys) NC_000007.14:5987347:C:T p.(Glu473Lys) NC_000007.14:5987347:C:T Identity +NM_000059.4:c.7559G>T NP_000050.3:p.Arg2520Leu NC_000013.11:32356550:G:T p.(Arg2520Leu) NC_000013.11:32356550:G:T p.(Arg2520Leu) NC_000013.11:32356550:G:T Identity +NM_001320415.2:c.5T>C NP_001307344.1:p.Leu2Pro NC_000014.9:65077928:A:G p.(Leu2Pro) NC_000014.9:65077928:A:G p.(Leu2Pro) NC_000014.9:65077928:A:G Identity +NM_024675.4:c.1273G>A NP_078951.2:p.Val425Met NC_000016.10:23635272:C:T p.(Val425Met) NC_000016.10:23635272:C:T p.(Val425Met) NC_000016.10:23635272:C:T Identity +NM_000059.4:c.5987C>G NP_000050.3:p.Ala1996Gly NC_000013.11:32340341:C:G p.(Ala1996Gly) NC_000013.11:32340341:C:G p.(Ala1996Gly) NC_000013.11:32340341:C:G Identity +NM_000038.6:c.995G>A NP_000029.2:p.Arg332Gln NC_000005.10:112819026:G:A p.(Arg332Gln) NC_000005.10:112819026:G:A p.(Arg332Gln) NC_000005.10:112819026:G:A Identity +NM_000059.4:c.8422C>G NP_000050.3:p.Leu2808Val NC_000013.11:32370491:C:G p.(Leu2808Val) NC_000013.11:32370491:C:G p.(Leu2808Val) NC_000013.11:32370491:C:G Identity +NM_000314.8:c.892C>T NP_000305.3:p.Gln298Ter NC_000010.11:87960983:C:T p.(Gln298Ter) NC_000010.11:87960983:C:T p.(Gln298Ter) NC_000010.11:87960983:C:T Identity +NM_000535.7:c.2384G>A NP_000526.2:p.Gly795Glu NC_000007.14:5977648:C:T p.(Gly795Glu) NC_000007.14:5977648:C:T p.(Gly795Glu) NC_000007.14:5977648:C:T Identity +NM_000051.4:c.716T>C NP_000042.3:p.Phe239Ser NC_000011.10:108244840:T:C p.(Phe239Ser) NC_000011.10:108244840:T:C p.(Phe239Ser) NC_000011.10:108244840:T:C Identity +NM_001330347.2:c.739dup NP_001317276.1:p.His247fs NC_000011.10:94471679:G:GG p.(His247ProfsTer2) NC_000011.10:94471679:G:GG p.(His247ProfsTer2) ERR:SPDI Analogous +NM_005359.6:c.1448G>A NP_005350.1:p.Ser483Asn NC_000018.10:51078255:G:A p.(Ser483Asn) NC_000018.10:51078255:G:A p.(Ser483Asn) NC_000018.10:51078255:G:A Identity +NM_032043.3:c.3215C>A NP_114432.2:p.Thr1072Asn NC_000017.11:61683830:G:T p.(Thr1072Asn) NC_000017.11:61683830:G:T p.(Thr1072Asn) NC_000017.11:61683830:G:T Identity +NM_000314.8:c.545T>C NP_000305.3:p.Leu182Ser NC_000010.11:87952169:T:C p.(Leu182Ser) NC_000010.11:87952169:T:C p.(Leu182Ser) NC_000010.11:87952169:T:C Identity +NM_000245.4:c.3509G>A NP_000236.2:p.Arg1170Gln NC_000007.14:116778943:G:A p.(Arg1170Gln) NC_000007.14:116778943:G:A p.(Arg1170Gln) NC_000007.14:116778943:G:A Identity +NM_001330358.2:c.1385G>C NP_001317287.1:p.Trp462Ser NC_000001.11:11794442:C:G p.(Trp462Ser) NC_000001.11:11794442:C:G p.(Trp462Ser) NC_000001.11:11794442:C:G Identity +NM_032043.3:c.2828T>C NP_114432.2:p.Val943Ala NC_000017.11:61685912:A:G p.(Val943Ala) NC_000017.11:61685912:A:G p.(Val943Ala) NC_000017.11:61685912:A:G Identity +NM_004329.3:c.499A>G NP_004320.2:p.Met167Val NC_000010.11:86900094:A:G p.(Met167Val) NC_000010.11:86900094:A:G p.(Met167Val) NC_000010.11:86900094:A:G Identity +NM_000245.4:c.1984A>G NP_000236.2:p.Ile662Val NC_000007.14:116757655:A:G p.(Ile662Val) NC_000007.14:116757655:A:G p.(Ile662Val) NC_000007.14:116757655:A:G Identity +NM_000323.2:c.972G>C NP_000314.1:p.Trp324Cys NC_000010.11:43106479:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_024675.4:c.1316G>T NP_078951.2:p.Gly439Val NC_000016.10:23635229:C:A p.(Gly439Val) NC_000016.10:23635229:C:A p.(Gly439Val) NC_000016.10:23635229:C:A Identity +NM_000038.6:c.1588G>A NP_000029.2:p.Val530Met NC_000005.10:112827967:G:A p.(Val530Met) NC_000005.10:112827967:G:A p.(Val530Met) NC_000005.10:112827967:G:A Identity +NM_000245.4:c.2198C>T NP_000236.2:p.Thr733Ile NC_000007.14:116758553:C:T p.(Thr733Ile) NC_000007.14:116758553:C:T p.(Thr733Ile) NC_000007.14:116758553:C:T Identity +NM_001304481.2:c.2404G>A NP_001291410.1:p.Val802Met NC_000012.12:32640380:G:A p.(Val802Met) NC_000012.12:32640380:G:A p.(Val802Met) NC_000012.12:32640380:G:A Identity +NM_000128.4:c.961_962del NP_000119.1:p.Cys321fs NC_000004.12:186280315:TGTG:TG p.(Cys321HisfsTer37) NC_000004.12:186280315:TGTG:TG p.(Cys321HisfsTer37) NC_000004.12:186280317:TG: Analogous +NM_001080463.2:c.3500A>G NP_001073932.1:p.His1167Arg NC_000011.10:103154735:A:G p.(His1167Arg) NC_000011.10:103154735:A:G p.(His1167Arg) NC_000011.10:103154735:A:G Identity +NM_000038.6:c.6966G>C NP_000029.2:p.Gln2322His NC_000005.10:112842559:G:C p.(Gln2322His) NC_000005.10:112842559:G:C p.(Gln2322His) NC_000005.10:112842559:G:C Identity +NM_000051.4:c.409T>G NP_000042.3:p.Tyr137Asp NC_000011.10:108235746:T:G p.(Tyr137Asp) NC_000011.10:108235746:T:G p.(Tyr137Asp) NC_000011.10:108235746:T:G Identity +NM_000245.4:c.4144C>T NP_000236.2:p.Arg1382Ter NC_000007.14:116796094:C:T p.(Arg1382Ter) NC_000007.14:116796094:C:T p.(Arg1382Ter) NC_000007.14:116796094:C:T Identity +NM_024649.5:c.436C>T NP_078925.3:p.Arg146Ter NC_000011.10:66515542:C:T p.(Arg146Ter) NC_000011.10:66515542:C:T p.(Arg146Ter) NC_000011.10:66515542:C:T Identity +NM_000035.4:c.360_363del NP_000026.2:p.Asn120fs NC_000009.12:101428484:TTTGTTTGTT:TTTGTT p.(Asn120LysfsTer32) NC_000009.12:101428484:TTTGTTTGTT:TTTGTT p.(Asn120LysfsTer32) NC_000009.12:101428484:TTTG: Analogous +NM_001160227.2:c.3988C>G NP_001153699.1:p.Gln1330Glu NC_000015.10:44598277:G:C p.(Gln1330Glu) NC_000015.10:44598277:G:C p.(Gln1330Glu) NC_000015.10:44598277:G:C Identity +NM_001369.3:c.8757G>C NP_001360.1:p.Glu2919Asp NC_000005.10:13786241:C:G p.(Glu2919Asp) NC_000005.10:13786241:C:G p.(Glu2919Asp) NC_000005.10:13786241:C:G Identity +NM_001164716.1:c.1533del NP_001158188.1:p.Phe511fs NC_000011.10:64751626:AAAAAA:AAAAA p.(Phe511LeufsTer6) NC_000011.10:64751626:AAAAAA:AAAAA p.(Phe511LeufsTer6) NC_000011.10:64751626:A: Analogous +NM_000050.4:c.1138C>T NP_000041.2:p.Gln380Ter NC_000009.12:130499514:C:T p.(Gln380Ter) NC_000009.12:130499514:C:T p.(Gln380Ter) NC_000009.12:130499514:C:T Identity +NM_001128227.3:c.705G>A NP_001121699.1:p.Trp235Ter NC_000009.12:36246034:C:T p.(Trp235Ter) NC_000009.12:36246034:C:T p.(Trp235Ter) NC_000009.12:36246034:C:T Identity +NM_000466.3:c.911_912del NP_000457.1:p.Ser304fs NC_000007.14:92517602:AGAG:AG p.(Ser304CysfsTer4) NC_000007.14:92517602:AGAG:AG p.(Ser304CysfsTer4) NC_000007.14:92517602:AG: Analogous +NM_000391.4:c.1379G>A NP_000382.3:p.Trp460Ter NC_000011.10:6615216:C:T p.(Trp460Ter) NC_000011.10:6615216:C:T p.(Trp460Ter) NC_000011.10:6615216:C:T Identity +NM_001166247.1:c.592C>T NP_001159719.1:p.Arg198Ter NC_000006.12:101676672:C:T p.(Arg198Ter) NC_000006.12:101676672:C:T p.(Arg198Ter) NC_000006.12:101676672:C:T Identity +NM_000053.4:c.3008C>T NP_000044.2:p.Ala1003Val NC_000013.11:51946335:G:A p.(Ala1003Val) NC_000013.11:51946335:G:A p.(Ala1003Val) NC_000013.11:51946335:G:A Identity +NM_000098.3:c.38del NP_000089.1:p.Gly13fs NC_000001.11:53196977:GGGG:GGG p.(Gly13AlafsTer60) NC_000001.11:53196977:GGGG:GGG p.(Gly13AlafsTer60) NC_000001.11:53196980:G: Analogous +NM_000152.5:c.525_526del NP_000143.2:p.Asn177fs NC_000017.11:80105110:TG: p.(Asn177ProfsTer11) NC_000017.11:80105110:TG: p.(Asn177ProfsTer11) NC_000017.11:80105110:TG: Analogous +NM_000231.3:c.525del NP_000222.2:p.Phe175fs NC_000013.11:23295429:TTTTT:TTTT p.(Phe175LeufsTer20) NC_000013.11:23295429:TTTTT:TTTT p.(Phe175LeufsTer20) NC_000013.11:23295433:T: Analogous +NM_001171653.2:c.2107_2108del NP_001165124.1:p.Leu703fs NC_000002.12:144399006:AAA:A p.(Leu703IlefsTer28) NC_000002.12:144399006:AAA:A p.(Leu703IlefsTer28) NC_000002.12:144399006:AA: Analogous +NM_001018111.3:c.1421T>G NP_001018121.1:p.Leu474Arg NC_000007.14:131505925:A:C p.(Leu474Arg) NC_000007.14:131505925:A:C p.(Leu474Arg) NC_000007.14:131505925:A:C Identity +NM_000018.4:c.298_299del NP_000009.1:p.Gln100fs NC_000017.11:7220782:ACACA:ACA p.(Gln100ValfsTer3) NC_000017.11:7220782:ACACA:ACA p.(Gln100ValfsTer3) NC_000017.11:7220785:CA: Analogous +NM_001037343.2:c.510_511dup NP_001032420.1:p.Tyr171fs NC_000023.11:18584308:GT:GTGT p.(Tyr171CysfsTer58) NC_000023.11:18584308:GT:GTGT p.(Tyr171CysfsTer58) ERR:SPDI Analogous +NM_001110792.2:c.413A>G NP_001104262.1:p.Asn138Ser NC_000023.11:154032206:T:C p.(Asn138Ser) NC_000023.11:154032206:T:C p.(Asn138Ser) NC_000023.11:154032206:T:C Identity +NM_000314.8:c.437T>A NP_000305.3:p.Leu146Ter NC_000010.11:87933195:T:A p.(Leu146Ter) NC_000010.11:87933195:T:A p.(Leu146Ter) NC_000010.11:87933195:T:A Identity +NM_001110792.2:c.868G>A NP_001104262.1:p.Ala290Thr NC_000023.11:154030995:C:T p.(Ala290Thr) NC_000023.11:154030995:C:T p.(Ala290Thr) NC_000023.11:154030995:C:T Identity +NM_001037343.2:c.59G>A NP_001032420.1:p.Gly20Asp NC_000023.11:18507154:G:A p.(Gly20Asp) NC_000023.11:18507154:G:A p.(Gly20Asp) NC_000023.11:18507154:G:A Identity +NM_000384.3:c.7134C>A NP_000375.3:p.Ser2378Arg NC_000002.12:21009733:G:T p.(Ser2378Arg) NC_000002.12:21009733:G:T p.(Ser2378Arg) NC_000002.12:21009733:G:T Identity +NM_001037343.2:c.2389G>A NP_001032420.1:p.Asp797Asn NC_000023.11:18625139:G:A p.(Asp797Asn) NC_000023.11:18625139:G:A p.(Asp797Asn) NC_000023.11:18625139:G:A Identity +NM_001165963.4:c.2879T>G NP_001159435.1:p.Met960Arg NC_000002.12:166037842:A:C p.(Met960Arg) NC_000002.12:166037842:A:C p.(Met960Arg) NC_000002.12:166037842:A:C Identity +NM_001165963.4:c.4086C>G NP_001159435.1:p.Ser1362Arg NC_000002.12:166002669:G:C p.(Ser1362Arg) NC_000002.12:166002669:G:C p.(Ser1362Arg) NC_000002.12:166002669:G:C Identity +NM_001165963.4:c.1007G>A NP_001159435.1:p.Cys336Tyr NC_000002.12:166048906:C:T p.(Cys336Tyr) NC_000002.12:166048906:C:T p.(Cys336Tyr) NC_000002.12:166048906:C:T Identity +NM_001165963.4:c.1199T>A NP_001159435.1:p.Met400Lys NC_000002.12:166046947:A:T p.(Met400Lys) NC_000002.12:166046947:A:T p.(Met400Lys) NC_000002.12:166046947:A:T Identity +NM_001165963.4:c.5674C>T NP_001159435.1:p.Arg1892Ter NC_000002.12:165991600:G:A p.(Arg1892Ter) NC_000002.12:165991600:G:A p.(Arg1892Ter) NC_000002.12:165991600:G:A Identity +NM_001037343.2:c.1266C>A NP_001032420.1:p.Asp422Glu NC_000023.11:18604189:C:A p.(Asp422Glu) NC_000023.11:18604189:C:A p.(Asp422Glu) NC_000023.11:18604189:C:A Identity +NM_001110792.2:c.1200_1230del NP_001104262.1:p.Pro403fs NC_000023.11:154030633:GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG:G p.(Pro403AlafsTer8) NC_000023.11:154030633:GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG:G p.(Pro403AlafsTer8) NC_000023.11:154030633:GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT: Analogous +NM_001384165.1:c.590dup NP_001371094.1:p.Asn198fs NC_000017.11:44075933:TTTT:TTTTT p.(Asn198GlnfsTer74) NC_000017.11:44075933:TTTT:TTTTT p.(Asn198GlnfsTer74) ERR:SPDI Analogous +NM_001165963.4:c.3455C>A NP_001159435.1:p.Ser1152Ter NC_000002.12:166015701:G:T p.(Ser1152Ter) NC_000002.12:166015701:G:T p.(Ser1152Ter) NC_000002.12:166015701:G:T Identity +NM_018676.4:c.670C>T NP_061146.1:p.Arg224Ter NC_000013.11:52397582:G:A p.(Arg224Ter) NC_000013.11:52397582:G:A p.(Arg224Ter) NC_000013.11:52397582:G:A Identity +NM_001365276.2:c.12224G>A NP_001352205.1:p.Arg4075His NC_000006.12:32042348:C:T p.(Arg4075His) NC_000006.12:32042348:C:T p.(Arg4075His) NC_000006.12:32042348:C:T Identity +NM_001346445.2:c.7562C>G NP_001333374.1:p.Pro2521Arg NC_000011.10:62526854:G:C p.(Pro2521Arg) NC_000011.10:62526854:G:C p.(Pro2521Arg) NC_000011.10:62526854:G:C Identity +LRG_1228t1:c.40G>A LRG_1228p1:p.Gly14Ser NC_000003.12:9890761:G:A ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found ERR:AlignmentMapper(tx_ac=LRG_1228t1, alt_ac=LRG_1228t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1228t1, alt_ac=LRG_1228t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found +NM_001379277.1:c.4899G>C NP_001366206.1:p.Gln1633His NC_000007.14:92097212:G:C p.(Gln1633His) NC_000007.14:92097212:G:C p.(Gln1633His) NC_000007.14:92097212:G:C Identity +NM_000124.4:c.3536del NP_000115.1:p.Tyr1179fs NC_000010.11:49470423:T: p.(Tyr1179LeufsTer22) NC_000010.11:49470423:T: p.(Tyr1179LeufsTer22) NC_000010.11:49470423:T: Analogous +NM_000426.4:c.8282T>C NP_000417.3:p.Ile2761Thr NC_000006.12:129502695:T:C p.(Ile2761Thr) NC_000006.12:129502695:T:C p.(Ile2761Thr) NC_000006.12:129502695:T:C Identity +NM_000719.7:c.3862G>A NP_000710.5:p.Ala1288Thr NC_000012.12:2634329:G:A p.(Ala1288Thr) NC_000012.12:2634329:G:A p.(Ala1288Thr) NC_000012.12:2634329:G:A Identity +NM_001232.4:c.633G>T NP_001223.2:p.Met211Ile NC_000001.11:115727095:C:A p.(Met211Ile) NC_000001.11:115727095:C:A p.(Met211Ile) NC_000001.11:115727095:C:A Identity +NM_005477.3:c.1132C>T NP_005468.1:p.Arg378Cys NC_000015.10:73343461:G:A p.(Arg378Cys) NC_000015.10:73343461:G:A p.(Arg378Cys) NC_000015.10:73343461:G:A Identity +NM_001232.4:c.10A>T NP_001223.2:p.Thr4Ser NC_000001.11:115768531:T:A p.(Thr4Ser) NC_000001.11:115768531:T:A p.(Thr4Ser) NC_000001.11:115768531:T:A Identity +NM_001127493.3:c.3544C>T NP_001120965.1:p.Arg1182Trp NC_000004.12:113336036:C:T p.(Arg1182Trp) NC_000004.12:113336036:C:T p.(Arg1182Trp) NC_000004.12:113336036:C:T Identity +NM_003098.3:c.992G>A NP_003089.1:p.Arg331His NC_000020.11:33412343:C:T p.(Arg331His) NC_000020.11:33412343:C:T p.(Arg331His) NC_000020.11:33412343:C:T Identity +NM_000359.3:c.977_978del NP_000350.1:p.Ser326fs NC_000014.9:24259709:AGAGA:AGA p.(Ser326CysfsTer8) NC_000014.9:24259709:AGAGA:AGA p.(Ser326CysfsTer8) NC_000014.9:24259709:AG: Analogous +NM_000286.3:c.334C>T NP_000277.1:p.Gln112Ter NC_000017.11:35577383:G:A p.(Gln112Ter) NC_000017.11:35577383:G:A p.(Gln112Ter) NC_000017.11:35577383:G:A Identity +NM_003098.3:c.677G>A NP_003089.1:p.Cys226Tyr NC_000020.11:33417742:C:T p.(Cys226Tyr) NC_000020.11:33417742:C:T p.(Cys226Tyr) NC_000020.11:33417742:C:T Identity +NM_172201.2:c.205G>A NP_751951.1:p.Val69Met NC_000021.9:34370682:G:A p.(Val69Met) NC_000021.9:34370682:G:A p.(Val69Met) NC_000021.9:34370682:G:A Identity +NM_000891.3:c.916_918del NP_000882.1:p.Ala306del NC_000017.11:70175954:GCC: p.(Ala306del) NC_000017.11:70175954:GCC: p.(Ala306del) NC_000017.11:70175954:GCC: Identity +NM_001369512.1:c.1868G>T NP_001356441.1:p.Trp623Leu NC_000017.11:42323023:C:A p.(Trp623Leu) NC_000017.11:42323023:C:A p.(Trp623Leu) NC_000017.11:42323023:C:A Identity +NM_001256850.1:c.93098G>A NP_001243779.1:p.Arg31033His NC_000002.12:178540144:C:T p.(Arg31033His) NC_000002.12:178540144:C:T p.(Arg31033His) NC_000002.12:178540144:C:T Identity +NM_020989.4:c.403G>T NP_066269.1:p.Glu135Ter NC_000002.12:208128324:C:A p.(Glu135Ter) NC_000002.12:208128324:C:A p.(Glu135Ter) NC_000002.12:208128324:C:A Identity +NM_000426.4:c.4348C>T NP_000417.3:p.Arg1450Ter NC_000006.12:129342378:C:T p.(Arg1450Ter) NC_000006.12:129342378:C:T p.(Arg1450Ter) NC_000006.12:129342378:C:T Identity +NM_002546.4:c.194G>T NP_002537.3:p.Cys65Phe NC_000008.11:118933136:C:A p.(Cys65Phe) NC_000008.11:118933136:C:A p.(Cys65Phe) NC_000008.11:118933136:C:A Identity +NM_005751.5:c.3950T>C NP_005742.4:p.Ile1317Thr NC_000007.14:92022349:T:C p.(Ile1317Thr) NC_000007.14:92022349:T:C p.(Ile1317Thr) NC_000007.14:92022349:T:C Identity +NM_000215.4:c.308G>A NP_000206.2:p.Arg103His NC_000019.10:17843776:C:T p.(Arg103His) NC_000019.10:17843776:C:T p.(Arg103His) NC_000019.10:17843776:C:T Identity +NM_001256850.1:c.6959G>A NP_001243779.1:p.Arg2320His NC_000002.12:178774304:C:T p.(Arg2320His) NC_000002.12:178774304:C:T p.(Arg2320His) NC_000002.12:178774304:C:T Identity +NM_017780.4:c.3613A>G NP_060250.2:p.Ile1205Val NC_000008.11:60830411:A:G p.(Ile1205Val) NC_000008.11:60830411:A:G p.(Ile1205Val) NC_000008.11:60830411:A:G Identity +LRG_386t1:c.270C>G LRG_386p1:p.Phe90Leu NC_000011.10:47351260:G:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +LRG_402t1:c.13712C>T LRG_402p1:p.Thr4571Met NC_000001.11:237792252:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001035.3:c.4445G>A NP_001026.2:p.Arg1482His NC_000001.11:237595505:G:A p.(Arg1482His) NC_000001.11:237595505:G:A p.(Arg1482His) NC_000001.11:237595505:G:A Identity +NM_001849.4:c.1997G>A NP_001840.3:p.Ser666Asn NC_000021.9:46125811:G:A p.(Ser666Asn) NC_000021.9:46125811:G:A p.(Ser666Asn) NC_000021.9:46125811:G:A Identity +NM_001324191.2:c.419T>C NP_001311120.1:p.Phe140Ser NC_000020.11:3912513:T:C p.(Phe140Ser) NC_000020.11:3912513:T:C p.(Phe140Ser) NC_000020.11:3912513:T:C Identity +NM_000724.4:c.928G>T NP_000715.2:p.Ala310Ser NC_000010.11:18534113:G:T p.(Ala310Ser) NC_000010.11:18534113:G:T p.(Ala310Ser) NC_000010.11:18534113:G:T Identity +NM_001011649.3:c.140del NP_001011649.1:p.Val47fs NC_000009.12:120568375:A: p.(Val47GlyfsTer14) NC_000009.12:120568375:A: p.(Val47GlyfsTer14) NC_000009.12:120568375:A: Analogous +NM_001148.6:c.9916G>A NP_001139.3:p.Val3306Ile NC_000004.12:113358533:G:A p.(Val3306Ile) NC_000004.12:113358533:G:A p.(Val3306Ile) NC_000004.12:113358533:G:A Identity +NM_001377273.1:c.3955G>A NP_001364202.1:p.Val1319Ile NC_000012.12:21815830:C:T p.(Val1319Ile) NC_000012.12:21815830:C:T p.(Val1319Ile) NC_000012.12:21815830:C:T Identity +NM_003276.2:c.2020A>G NP_003267.1:p.Lys674Glu NC_000012.12:98534276:A:G p.(Lys674Glu) NC_000012.12:98534276:A:G p.(Lys674Glu) NC_000012.12:98534276:A:G Identity +NM_001256850.1:c.101105A>G NP_001243779.1:p.Glu33702Gly NC_000002.12:178530586:T:C p.(Glu33702Gly) NC_000002.12:178530586:T:C p.(Glu33702Gly) NC_000002.12:178530586:T:C Identity +NM_001256850.1:c.96075C>G NP_001243779.1:p.Phe32025Leu NC_000002.12:178535616:G:C p.(Phe32025Leu) NC_000002.12:178535616:G:C p.(Phe32025Leu) NC_000002.12:178535616:G:C Identity +NM_000466.3:c.657_660del NP_000457.1:p.Ser220fs NC_000007.14:92517854:TGACTGA:TGA p.(Ser220IlefsTer22) NC_000007.14:92517854:TGACTGA:TGA p.(Ser220IlefsTer22) NC_000007.14:92517854:TGAC: Analogous +NM_001282684.2:c.413G>A NP_001269613.2:p.Arg138His NC_000022.11:37057419:G:A p.(Arg138His) NC_000022.11:37057419:G:A p.(Arg138His) NC_000022.11:37057419:G:A Identity +NM_001148.6:c.5827G>A NP_001139.3:p.Gly1943Arg NC_000004.12:113354444:G:A p.(Gly1943Arg) NC_000004.12:113354444:G:A p.(Gly1943Arg) NC_000004.12:113354444:G:A Identity +NM_001301013.2:c.233C>G NP_001287942.1:p.Thr78Arg NC_000006.12:133448134:C:G p.(Thr78Arg) NC_000006.12:133448134:C:G p.(Thr78Arg) NC_000006.12:133448134:C:G Identity +NM_001080115.2:c.443G>A NP_001073584.1:p.Arg148Gln NC_000010.11:86681556:G:A p.(Arg148Gln) NC_000010.11:86681556:G:A p.(Arg148Gln) NC_000010.11:86681556:G:A Identity +LRG_402t1:c.5653G>T LRG_402p1:p.Gly1885Trp NC_000001.11:237614780:G:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_014391.3:c.202G>A NP_055206.2:p.Ala68Thr NC_000010.11:90920173:C:T p.(Ala68Thr) NC_000010.11:90920173:C:T p.(Ala68Thr) NC_000010.11:90920173:C:T Identity +NM_001256850.1:c.44147C>T NP_001243779.1:p.Ala14716Val NC_000002.12:178614326:G:A p.(Ala14716Val) NC_000002.12:178614326:G:A p.(Ala14716Val) NC_000002.12:178614326:G:A Identity +NM_001267550.2:c.10770G>C NP_001254479.2:p.Glu3590Asp NC_000002.12:178756705:C:G p.(Glu3590Asp) NC_000002.12:178756705:C:G p.(Glu3590Asp) NC_000002.12:178756705:C:G Identity +NM_133379.5:c.13978C>T NP_596870.2:p.His4660Tyr NC_000002.12:178748421:G:A p.(His4660Tyr) NC_000002.12:178748421:G:A p.(His4660Tyr) NC_000002.12:178748421:G:A Identity +NM_000363.5:c.233C>G NP_000354.4:p.Thr78Ser NC_000019.10:55156249:G:C p.(Thr78Ser) NC_000019.10:55156249:G:C p.(Thr78Ser) NC_000019.10:55156249:G:C Identity +NM_001256850.1:c.20555A>G NP_001243779.1:p.Asn6852Ser NC_000002.12:178723593:T:C p.(Asn6852Ser) NC_000002.12:178723593:T:C p.(Asn6852Ser) NC_000002.12:178723593:T:C Identity +NM_001105206.3:c.832T>C NP_001098676.2:p.Trp278Arg NC_000006.12:112187583:A:G p.(Trp278Arg) NC_000006.12:112187583:A:G p.(Trp278Arg) NC_000006.12:112187583:A:G Identity +NM_000257.4:c.5527A>G NP_000248.2:p.Ser1843Gly NC_000014.9:23415026:T:C p.(Ser1843Gly) NC_000014.9:23415026:T:C p.(Ser1843Gly) NC_000014.9:23415026:T:C Identity +NM_001256850.1:c.96785G>A NP_001243779.1:p.Arg32262His NC_000002.12:178534906:C:T p.(Arg32262His) NC_000002.12:178534906:C:T p.(Arg32262His) NC_000002.12:178534906:C:T Identity +NM_001083961.2:c.28G>T NP_001077430.1:p.Ala10Ser NC_000019.10:36054998:G:T p.(Ala10Ser) NC_000019.10:36054998:G:T p.(Ala10Ser) NC_000019.10:36054998:G:T Identity +NM_001105243.2:c.559T>G NP_001098713.1:p.Phe187Val NC_000023.11:100408038:A:C p.(Phe187Val) NC_000023.11:100408038:A:C p.(Phe187Val) NC_000023.11:100408038:A:C Identity +NM_001278055.2:c.3635T>C NP_001264984.1:p.Met1212Thr NC_000013.11:23339799:A:G p.(Met1212Thr) NC_000013.11:23339799:A:G p.(Met1212Thr) NC_000013.11:23339799:A:G Identity +NM_000921.5:c.1333A>G NP_000912.3:p.Thr445Ala NC_000012.12:20616292:A:G p.(Thr445Ala) NC_000012.12:20616292:A:G p.(Thr445Ala) NC_000012.12:20616292:A:G Identity +NM_000440.3:c.251A>T NP_000431.2:p.Lys84Met NC_000005.10:149944422:T:A p.(Lys84Met) NC_000005.10:149944422:T:A p.(Lys84Met) NC_000005.10:149944422:T:A Identity +NM_006204.4:c.205G>A NP_006195.3:p.Val69Met NC_000010.11:93612929:G:A p.(Val69Met) NC_000010.11:93612929:G:A p.(Val69Met) NC_000010.11:93612929:G:A Identity +NM_001256850.1:c.74290G>A NP_001243779.1:p.Val24764Ile NC_000002.12:178566918:C:T p.(Val24764Ile) NC_000002.12:178566918:C:T p.(Val24764Ile) NC_000002.12:178566918:C:T Identity +NM_001256850.1:c.58694T>C NP_001243779.1:p.Val19565Ala NC_000002.12:178587691:A:G p.(Val19565Ala) NC_000002.12:178587691:A:G p.(Val19565Ala) NC_000002.12:178587691:A:G Identity +NM_133379.5:c.16256G>A NP_596870.2:p.Cys5419Tyr NC_000002.12:178746143:C:T p.(Cys5419Tyr) NC_000002.12:178746143:C:T p.(Cys5419Tyr) NC_000002.12:178746143:C:T Identity +NM_004260.4:c.1685G>A NP_004251.4:p.Arg562Gln NC_000008.11:144514460:C:T p.(Arg562Gln) NC_000008.11:144514460:C:T p.(Arg562Gln) NC_000008.11:144514460:C:T Identity +NM_001164716.1:c.920C>T NP_001158188.1:p.Thr307Met NC_000011.10:64753933:G:A p.(Thr307Met) NC_000011.10:64753933:G:A p.(Thr307Met) NC_000011.10:64753933:G:A Identity +NM_000203.5:c.1529C>G NP_000194.2:p.Pro510Arg NC_000004.12:1003348:C:G p.(Pro510Arg) NC_000004.12:1003348:C:G p.(Pro510Arg) NC_000004.12:1003348:C:G Identity +NM_000328.3:c.1348T>C NP_000319.1:p.Cys450Arg NC_000023.11:38297349:A:G p.(Cys450Arg) NC_000023.11:38297349:A:G p.(Cys450Arg) NC_000023.11:38297349:A:G Identity +NM_001083885.3:c.1495C>A NP_001077354.2:p.Arg499Ser NC_000009.12:114402833:G:T p.(Arg499Ser) NC_000009.12:114402833:G:T p.(Arg499Ser) NC_000009.12:114402833:G:T Identity +NM_003482.4:c.2747_2748delinsAGCTGAGCCATCC NP_003473.3:p.Pro916fs NC_000012.12:49050934:CG:GGATGGCTCAGCT p.(Pro916GlnfsTer18) NC_000012.12:49050934:CG:GGATGGCTCAGCT p.(Pro916GlnfsTer18) NC_000012.12:49050934:CG:GGATGGCTCAGCT Analogous +NM_000018.4:c.1153C>T NP_000009.1:p.Arg385Trp NC_000017.11:7223207:C:T p.(Arg385Trp) NC_000017.11:7223207:C:T p.(Arg385Trp) NC_000017.11:7223207:C:T Identity +NM_000026.4:c.1207A>C NP_000017.1:p.Ile403Leu NC_000022.11:40364894:A:C p.(Ile403Leu) NC_000022.11:40364894:A:C p.(Ile403Leu) NC_000022.11:40364894:A:C Identity +NM_005677.4:c.674G>C NP_005668.2:p.Gly225Ala NC_000003.12:15470578:C:G p.(Gly225Ala) NC_000003.12:15470578:C:G p.(Gly225Ala) NC_000003.12:15470578:C:G Identity +NM_001042692.3:c.1114CTT[1] NP_001036157.1:p.Leu373del NC_000002.12:63381933:AAGAAGA:AAGA p.(Leu373del) NC_000002.12:63381938:G:AAG ERR:Parse ERR:Parse Identity +NM_001177984.3:c.1819G>A NP_001171455.1:p.Ala607Thr NC_000012.12:51721728:G:A p.(Ala607Thr) NC_000012.12:51721728:G:A p.(Ala607Thr) NC_000012.12:51721728:G:A Identity +NM_001384732.1:c.1819dup NP_001371661.1:p.Tyr607fs NC_000005.10:37226775:AAAAAAAA:AAAAAAAAA p.(Tyr607LeufsTer12) NC_000005.10:37226775:AAAAAAAA:AAAAAAAAA p.(Tyr607LeufsTer12) ERR:SPDI Analogous +NM_031407.7:c.811A>G NP_113584.3:p.Arg271Gly NC_000023.11:53630985:T:C p.(Arg271Gly) NC_000023.11:53630985:T:C p.(Arg271Gly) NC_000023.11:53630985:T:C Identity +NM_001033604.2:c.1280C>T NP_001028776.1:p.Ala427Val NC_000007.14:33344584:C:T p.(Ala427Val) NC_000007.14:33344584:C:T p.(Ala427Val) NC_000007.14:33344584:C:T Identity +NM_001378923.1:c.64G>T NP_001365852.1:p.Ala22Ser NC_000009.12:35792471:G:T p.(Ala22Ser) NC_000009.12:35792471:G:T p.(Ala22Ser) NC_000009.12:35792471:G:T Identity +NM_012232.6:c.157C>G NP_036364.2:p.Leu53Val NC_000017.11:42422940:G:C p.(Leu53Val) NC_000017.11:42422940:G:C p.(Leu53Val) NC_000017.11:42422940:G:C Identity +NM_000052.7:c.3071T>A NP_000043.4:p.Ile1024Lys NC_000023.11:78029403:T:A p.(Ile1024Lys) NC_000023.11:78029403:T:A p.(Ile1024Lys) NC_000023.11:78029403:T:A Identity +NM_001172810.3:c.1583A>T NP_001166281.1:p.Asp528Val NC_000017.11:74312126:A:T p.(Asp528Val) NC_000017.11:74312126:A:T p.(Asp528Val) NC_000017.11:74312126:A:T Identity +NM_014141.6:c.2242G>T NP_054860.1:p.Asp748Tyr NC_000007.14:147903707:G:T p.(Asp748Tyr) NC_000007.14:147903707:G:T p.(Asp748Tyr) NC_000007.14:147903707:G:T Identity +NM_002180.3:c.2922T>G NP_002171.2:p.Asp974Glu NC_000011.10:68939670:T:G p.(Asp974Glu) NC_000011.10:68939670:T:G p.(Asp974Glu) NC_000011.10:68939670:T:G Identity +NM_001354663.2:c.1188AGA[1] NP_001341592.1:p.Glu398del NC_000003.12:193645765:GAAGAAGA:GAAGA p.(Glu398del) NC_000003.12:193645767:A:AGA ERR:Parse ERR:Parse Identity +NM_001080522.2:c.2050T>A NP_001073991.2:p.Leu684Ile NC_000004.12:15540882:T:A p.(Leu684Ile) NC_000004.12:15540882:T:A p.(Leu684Ile) NC_000004.12:15540882:T:A Identity +NM_001244808.3:c.1621C>T NP_001231737.1:p.Gln541Ter NC_000003.12:70972582:G:A p.(Gln541Ter) NC_000003.12:70972582:G:A p.(Gln541Ter) NC_000003.12:70972582:G:A Identity +NM_006343.3:c.2593C>T NP_006334.2:p.Arg865Trp NC_000002.12:112028456:C:T p.(Arg865Trp) NC_000002.12:112028456:C:T p.(Arg865Trp) NC_000002.12:112028456:C:T Identity +NM_000543.5:c.872G>A NP_000534.3:p.Arg291His NC_000011.10:6391936:G:A p.(Arg291His) NC_000011.10:6391936:G:A p.(Arg291His) NC_000011.10:6391936:G:A Identity +NM_001301031.1:c.931G>C NP_001287960.1:p.Val311Leu NC_000015.10:65625010:G:C p.(Val311Leu) NC_000015.10:65625010:G:C p.(Val311Leu) NC_000015.10:65625010:G:C Identity +NM_001316690.1:c.272G>A NP_001303619.1:p.Ser91Asn NC_000008.11:60741703:G:A p.(Ser91Asn) NC_000008.11:60741703:G:A p.(Ser91Asn) NC_000008.11:60741703:G:A Identity +NM_000208.4:c.3193C>G NP_000199.2:p.Leu1065Val NC_000019.10:7125347:G:C p.(Leu1065Val) NC_000019.10:7125347:G:C p.(Leu1065Val) NC_000019.10:7125347:G:C Identity +NM_001321309.2:c.2665GAA[1] NP_001308238.1:p.Glu890del NC_000003.12:123700269:TTCTTCTT:TTCTT p.(Glu890del) NC_000003.12:123700274:C:TTC ERR:Parse ERR:Parse Identity +NM_001377289.1:c.620A>G NP_001364218.1:p.Glu207Gly NC_000006.12:70263289:T:C p.(Glu207Gly) NC_000006.12:70263289:T:C p.(Glu207Gly) NC_000006.12:70263289:T:C Identity +NM_001042663.3:c.2675C>T NP_001036128.2:p.Ser892Leu NC_000001.11:6468271:G:A p.(Ser892Leu) NC_000001.11:6468271:G:A p.(Ser892Leu) NC_000001.11:6468271:G:A Identity +NM_001127660.2:c.1148C>T NP_001121132.1:p.Ala383Val NC_000001.11:12002090:C:T p.(Ala383Val) NC_000001.11:12002090:C:T p.(Ala383Val) NC_000001.11:12002090:C:T Identity +NM_001378120.1:c.3743A>G NP_001365049.1:p.Gln1248Arg NC_000002.12:148485939:A:G p.(Gln1248Arg) NC_000002.12:148485939:A:G p.(Gln1248Arg) NC_000002.12:148485939:A:G Identity +NM_001384732.1:c.1456G>A NP_001371661.1:p.Asp486Asn NC_000005.10:37227307:C:T p.(Asp486Asn) NC_000005.10:37227307:C:T p.(Asp486Asn) NC_000005.10:37227307:C:T Identity +NM_000283.4:c.1685G>A NP_000274.3:p.Gly562Asp NC_000004.12:662203:G:A p.(Gly562Asp) NC_000004.12:662203:G:A p.(Gly562Asp) NC_000004.12:662203:G:A Identity +NM_001319074.4:c.91C>T NP_001306003.2:p.Arg31Cys NC_000019.10:3771651:G:A p.(Arg31Cys) NC_000019.10:3771651:G:A p.(Arg31Cys) NC_000019.10:3771651:G:A Identity +NM_001127892.2:c.853A>G NP_001121364.1:p.Ser285Gly NC_000016.10:51141077:T:C p.(Ser285Gly) NC_000016.10:51141077:T:C p.(Ser285Gly) NC_000016.10:51141077:T:C Identity +NM_001168370.2:c.533G>T NP_001161842.2:p.Arg178Leu NC_000006.12:43052255:C:A p.(Arg178Leu) NC_000006.12:43052255:C:A p.(Arg178Leu) NC_000006.12:43052255:C:A Identity +NM_001256850.1:c.47081G>A NP_001243779.1:p.Arg15694His NC_000002.12:178609305:C:T p.(Arg15694His) NC_000002.12:178609305:C:T p.(Arg15694His) NC_000002.12:178609305:C:T Identity +NM_001256850.1:c.53440G>A NP_001243779.1:p.Gly17814Ser NC_000002.12:178594029:C:T p.(Gly17814Ser) NC_000002.12:178594029:C:T p.(Gly17814Ser) NC_000002.12:178594029:C:T Identity +NM_001320641.2:c.1049C>T NP_001307570.1:p.Pro350Leu NC_000002.12:127054001:G:A p.(Pro350Leu) NC_000002.12:127054001:G:A p.(Pro350Leu) NC_000002.12:127054001:G:A Identity +NM_001364440.2:c.2071C>T NP_001351369.1:p.Arg691Cys NC_000005.10:7900031:C:T p.(Arg691Cys) NC_000005.10:7900031:C:T p.(Arg691Cys) NC_000005.10:7900031:C:T Identity +NM_000068.4:c.3448G>A NP_000059.3:p.Val1150Ile NC_000019.10:13286619:C:T p.(Val1150Ile) NC_000019.10:13286619:C:T p.(Val1150Ile) NC_000019.10:13286619:C:T Identity +NM_001130455.2:c.1959G>A NP_001123927.1:p.Trp653Ter NC_000002.12:71553831:G:A p.(Trp653Ter) NC_000002.12:71553831:G:A p.(Trp653Ter) NC_000002.12:71553831:G:A Identity +NM_001083961.2:c.3271_3273del NP_001077430.1:p.His1091del NC_000019.10:36102784:ACCAC:AC p.(His1091del) NC_000019.10:36102784:ACCAC:AC p.(His1091del) NC_000019.10:36102786:CAC: Identity +NM_001287489.2:c.3694C>T NP_001274418.1:p.Arg1232Trp NC_000002.12:26473170:G:A p.(Arg1232Trp) NC_000002.12:26473170:G:A p.(Arg1232Trp) NC_000002.12:26473170:G:A Identity +NM_001252020.2:c.235G>A NP_001238949.1:p.Glu79Lys NC_000015.10:31070125:C:T p.(Glu79Lys) NC_000015.10:31070125:C:T p.(Glu79Lys) NC_000015.10:31070125:C:T Identity +LRG_1400t1:c.203G>T LRG_1400p1:p.Gly68Val NC_000011.10:108133901:G:T ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found +NM_000875.5:c.3416G>A NP_000866.1:p.Arg1139Gln NC_000015.10:98939318:G:A p.(Arg1139Gln) NC_000015.10:98939318:G:A p.(Arg1139Gln) NC_000015.10:98939318:G:A Identity +NM_001256850.1:c.93389G>T NP_001243779.1:p.Gly31130Val NC_000002.12:178539752:C:A p.(Gly31130Val) NC_000002.12:178539752:C:A p.(Gly31130Val) NC_000002.12:178539752:C:A Identity +NM_001079846.1:c.6632G>A NP_001073315.1:p.Arg2211His NC_000016.10:3728300:C:T p.(Arg2211His) NC_000016.10:3728300:C:T p.(Arg2211His) NC_000016.10:3728300:C:T Identity +NM_001372305.1:c.1201G>A NP_001359234.1:p.Asp401Asn NC_000019.10:50323523:C:T p.(Asp401Asn) NC_000019.10:50323523:C:T p.(Asp401Asn) NC_000019.10:50323523:C:T Identity +NM_001142649.2:c.2500_2502del NP_001136121.1:p.Phe834del NC_000011.10:22276180:CTTC:C p.(Phe834del) NC_000011.10:22276180:CTTC:C p.(Phe834del) NC_000011.10:22276181:TTC: Identity +NM_001142763.2:c.5651_5654del NP_001136235.1:p.Arg1884fs NC_000010.11:53822092:TCTCTCT:TCT p.(Arg1884AsnfsTer12) NC_000010.11:53822092:TCTCTCT:TCT p.(Arg1884AsnfsTer12) NC_000010.11:53822092:TCTC: Analogous +NM_001999.4:c.4151G>A NP_001990.2:p.Cys1384Tyr NC_000005.10:128332982:C:T p.(Cys1384Tyr) NC_000005.10:128332982:C:T p.(Cys1384Tyr) NC_000005.10:128332982:C:T Identity +NM_025114.4:c.4031T>C NP_079390.3:p.Val1344Ala NC_000012.12:88087942:A:G p.(Val1344Ala) NC_000012.12:88087942:A:G p.(Val1344Ala) NC_000012.12:88087942:A:G Identity +NM_000445.5:c.11288C>T NP_000436.2:p.Pro3763Leu NC_000008.11:143918613:G:A p.(Pro3763Leu) NC_000008.11:143918613:G:A p.(Pro3763Leu) NC_000008.11:143918613:G:A Identity +NM_000445.5:c.12818G>A NP_000436.2:p.Arg4273His NC_000008.11:143917083:C:T p.(Arg4273His) NC_000008.11:143917083:C:T p.(Arg4273His) NC_000008.11:143917083:C:T Identity +NM_001003722.2:c.394G>A NP_001003722.1:p.Val132Ile NC_000009.12:128515600:G:A p.(Val132Ile) NC_000009.12:128515600:G:A p.(Val132Ile) NC_000009.12:128515600:G:A Identity +NM_001200.4:c.570A>T NP_001191.1:p.Arg190Ser NC_000020.11:6778467:A:T p.(Arg190Ser) NC_000020.11:6778467:A:T p.(Arg190Ser) NC_000020.11:6778467:A:T Identity +NM_006493.4:c.775A>T NP_006484.2:p.Ile259Leu NC_000013.11:77000666:A:T p.(Ile259Leu) NC_000013.11:77000666:A:T p.(Ile259Leu) NC_000013.11:77000666:A:T Identity +NM_001320665.2:c.208A>G NP_001307594.1:p.Ile70Val NC_000015.10:72712294:A:G p.(Ile70Val) NC_000015.10:72712294:A:G p.(Ile70Val) NC_000015.10:72712294:A:G Identity +NM_000445.5:c.11654C>T NP_000436.2:p.Thr3885Met NC_000008.11:143918247:G:A p.(Thr3885Met) NC_000008.11:143918247:G:A p.(Thr3885Met) NC_000008.11:143918247:G:A Identity +NM_001272003.2:c.155G>A NP_001258932.1:p.Arg52Gln NC_000009.12:135750141:G:A p.(Arg52Gln) NC_000009.12:135750141:G:A p.(Arg52Gln) NC_000009.12:135750141:G:A Identity +NM_003482.4:c.6739C>T NP_003473.3:p.Pro2247Ser NC_000012.12:49041030:G:A p.(Pro2247Ser) NC_000012.12:49041030:G:A p.(Pro2247Ser) NC_000012.12:49041030:G:A Identity +NM_000445.5:c.8132G>A NP_000436.2:p.Arg2711Gln NC_000008.11:143921769:C:T p.(Arg2711Gln) NC_000008.11:143921769:C:T p.(Arg2711Gln) NC_000008.11:143921769:C:T Identity +NM_000334.4:c.553G>A NP_000325.4:p.Asp185Asn NC_000017.11:63971779:C:T p.(Asp185Asn) NC_000017.11:63971779:C:T p.(Asp185Asn) NC_000017.11:63971779:C:T Identity +NM_001849.4:c.730G>A NP_001840.3:p.Gly244Arg NC_000021.9:46112818:G:A p.(Gly244Arg) NC_000021.9:46112818:G:A p.(Gly244Arg) NC_000021.9:46112818:G:A Identity +NM_012463.4:c.304C>T NP_036595.2:p.Gln102Ter NC_000012.12:123724662:C:T p.(Gln102Ter) NC_000012.12:123724662:C:T p.(Gln102Ter) NC_000012.12:123724662:C:T Identity +NM_001012509.4:c.987A>G NP_001012527.2:p.Thr329= NC_000005.10:33954405:T:C p.(Thr329=) NC_000005.10:33954405:T:C p.(Thr329=) NC_000005.10:33954405:T:C Identity +NM_001039885.3:c.1115T>G NP_001034974.1:p.Val372Gly NC_000019.10:46756564:T:G p.(Val372Gly) NC_000019.10:46756564:T:G p.(Val372Gly) NC_000019.10:46756564:T:G Identity +NM_000719.7:c.5644T>C NP_000710.5:p.Ser1882Pro NC_000012.12:2685805:T:C p.(Ser1882Pro) NC_000012.12:2685805:T:C p.(Ser1882Pro) NC_000012.12:2685805:T:C Identity +NM_032119.4:c.10126A>G NP_115495.3:p.Ile3376Val NC_000005.10:90725620:A:G p.(Ile3376Val) NC_000005.10:90725620:A:G p.(Ile3376Val) NC_000005.10:90725620:A:G Identity +NM_138694.4:c.5768A>T NP_619639.3:p.Gln1923Leu NC_000006.12:51960009:T:A p.(Gln1923Leu) NC_000006.12:51960009:T:A p.(Gln1923Leu) NC_000006.12:51960009:T:A Identity +NM_001130455.2:c.3970C>G NP_001123927.1:p.Gln1324Glu NC_000002.12:71611307:C:G p.(Gln1324Glu) NC_000002.12:71611307:C:G p.(Gln1324Glu) NC_000002.12:71611307:C:G Identity +NM_002427.4:c.772dup NP_002418.1:p.Asp258fs NC_000011.10:102952038:C:CC p.(Asp258GlyfsTer14) NC_000011.10:102952038:C:CC p.(Asp258GlyfsTer14) ERR:SPDI Analogous +NM_004369.4:c.2444C>A NP_004360.2:p.Pro815His NC_000002.12:237378688:G:T p.(Pro815His) NC_000002.12:237378688:G:T p.(Pro815His) NC_000002.12:237378688:G:T Identity +NM_001083314.4:c.178G>A NP_001076783.1:p.Val60Ile NC_000016.10:89649404:C:T p.(Val60Ile) NC_000016.10:89649404:C:T p.(Val60Ile) NC_000016.10:89649404:C:T Identity +NM_001374425.1:c.924_925insG NP_001361354.1:p.His309fs NC_000001.11:2406528::C p.(His309AlafsTer49) NC_000001.11:2406527:G:C p.(His309AlafsTer49) NC_000001.11:2406528:GG:C Analogous +LRG_1400t1:c.455G>C LRG_1400p1:p.Gly152Ala NC_000011.10:108138916:G:C ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found +NM_000232.5:c.913A>G NP_000223.1:p.Met305Val NC_000004.12:52024000:T:C p.(Met305Val) NC_000004.12:52024000:T:C p.(Met305Val) NC_000004.12:52024000:T:C Identity +NM_022124.6:c.5722G>A NP_071407.4:p.Val1908Ile NC_000010.11:71785639:G:A p.(Val1908Ile) NC_000010.11:71785639:G:A p.(Val1908Ile) NC_000010.11:71785639:G:A Identity +NM_001190709.2:c.4351A>G NP_001177638.1:p.Ile1451Val NC_000001.11:102888915:T:C p.(Ile1451Val) NC_000001.11:102888915:T:C p.(Ile1451Val) NC_000001.11:102888915:T:C Identity +NM_000169.3:c.1157A>C NP_000160.1:p.Gln386Pro NC_000023.11:101397941:T:G p.(Gln386Pro) NC_000023.11:101397941:T:G p.(Gln386Pro) NC_000023.11:101397941:T:G Identity +NM_001330358.2:c.1187C>T NP_001317287.1:p.Pro396Leu NC_000001.11:11794830:G:A p.(Pro396Leu) NC_000001.11:11794830:G:A p.(Pro396Leu) NC_000001.11:11794830:G:A Identity +NM_001145770.3:c.205G>T NP_001139242.1:p.Ala69Ser NC_000016.10:57651339:G:T p.(Ala69Ser) NC_000016.10:57651339:G:T p.(Ala69Ser) NC_000016.10:57651339:G:T Identity +NM_001012509.4:c.1032G>T NP_001012527.2:p.Gln344His NC_000005.10:33954360:C:A p.(Gln344His) NC_000005.10:33954360:C:A p.(Gln344His) NC_000005.10:33954360:C:A Identity +NM_014141.6:c.847C>T NP_054860.1:p.Arg283Cys NC_000007.14:147121070:C:T p.(Arg283Cys) NC_000007.14:147121070:C:T p.(Arg283Cys) NC_000007.14:147121070:C:T Identity +NM_001271933.2:c.457C>T NP_001258862.1:p.Leu153Phe NC_000011.10:117361897:C:T p.(Leu153Phe) NC_000011.10:117361897:C:T p.(Leu153Phe) NC_000011.10:117361897:C:T Identity +NM_001256789.3:c.571C>G NP_001243718.1:p.Pro191Ala NC_000023.11:49230559:G:C p.(Pro191Ala) NC_000023.11:49230559:G:C p.(Pro191Ala) NC_000023.11:49230559:G:C Identity +NM_001012720.2:c.565C>G NP_001012738.1:p.Leu189Val NC_000010.11:84254377:C:G p.(Leu189Val) NC_000010.11:84254377:C:G p.(Leu189Val) NC_000010.11:84254377:C:G Identity +NM_198525.3:c.1093C>A NP_940927.2:p.Pro365Thr NC_000015.10:89648604:G:T p.(Pro365Thr) NC_000015.10:89648604:G:T p.(Pro365Thr) NC_000015.10:89648604:G:T Identity +NM_000540.3:c.8327C>T NP_000531.2:p.Ser2776Phe NC_000019.10:38505324:C:T p.(Ser2776Phe) NC_000019.10:38505324:C:T p.(Ser2776Phe) NC_000019.10:38505324:C:T Identity +NM_001007468.3:c.1006G>T NP_001007469.1:p.Asp336Tyr NC_000022.11:23833617:G:T p.(Asp336Tyr) NC_000022.11:23833617:G:T p.(Asp336Tyr) NC_000022.11:23833617:G:T Identity +LRG_1400t1:c.766T>A LRG_1400p1:p.Tyr256Asn NC_000011.10:108141639:T:A ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1400t1, alt_ac=LRG_1400t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1400t1 not found +NM_001037343.2:c.541G>A NP_001032420.1:p.Glu181Lys NC_000023.11:18584339:G:A p.(Glu181Lys) NC_000023.11:18584339:G:A p.(Glu181Lys) NC_000023.11:18584339:G:A Identity +NM_001164097.2:c.5848G>T NP_001157569.1:p.Asp1950Tyr NC_000005.10:83541811:G:T p.(Asp1950Tyr) NC_000005.10:83541811:G:T p.(Asp1950Tyr) NC_000005.10:83541811:G:T Identity +NM_001145853.1:c.2029G>A NP_001139325.1:p.Ala677Thr NC_000004.12:6301823:G:A p.(Ala677Thr) NC_000004.12:6301823:G:A p.(Ala677Thr) NC_000004.12:6301823:G:A Identity +NM_017780.4:c.2436A>T NP_060250.2:p.Lys812Asn NC_000008.11:60801586:A:T p.(Lys812Asn) NC_000008.11:60801586:A:T p.(Lys812Asn) NC_000008.11:60801586:A:T Identity +NM_001136024.4:c.1703C>T NP_001129496.1:p.Ala568Val NC_000023.11:17726339:C:T p.(Ala568Val) NC_000023.11:17726339:C:T p.(Ala568Val) NC_000023.11:17726339:C:T Identity +NM_001369.3:c.11234A>G NP_001360.1:p.His3745Arg NC_000005.10:13737472:T:C p.(His3745Arg) NC_000005.10:13737472:T:C p.(His3745Arg) NC_000005.10:13737472:T:C Identity +NM_000440.3:c.1214A>G NP_000431.2:p.Asn405Ser NC_000005.10:149899423:T:C p.(Asn405Ser) NC_000005.10:149899423:T:C p.(Asn405Ser) NC_000005.10:149899423:T:C Identity +NM_001357321.2:c.1384G>A NP_001344250.1:p.Val462Ile NC_000002.12:43873961:G:A p.(Val462Ile) NC_000002.12:43873961:G:A p.(Val462Ile) NC_000002.12:43873961:G:A Identity +NM_031935.3:c.15010_15011delinsTT NP_114141.2:p.Thr5004Phe NC_000001.11:186152862:AC:TT p.(Thr5004Phe) NC_000001.11:186152862:AC:TT p.(Thr5004Phe) NC_000001.11:186152862:AC:TT Identity +NM_001164098.2:c.3713G>C NP_001157570.1:p.Arg1238Thr NC_000005.10:83522018:G:C p.(Arg1238Thr) NC_000005.10:83522018:G:C p.(Arg1238Thr) NC_000005.10:83522018:G:C Identity +NM_005199.5:c.775G>A NP_005190.4:p.Ala259Thr NC_000002.12:232543051:G:A p.(Ala259Thr) NC_000002.12:232543051:G:A p.(Ala259Thr) NC_000002.12:232543051:G:A Identity +NM_001177316.2:c.575C>T NP_001170787.2:p.Ser192Leu NC_000009.12:137233222:C:T p.(Ser192Leu) NC_000009.12:137233222:C:T p.(Ser192Leu) NC_000009.12:137233222:C:T Identity +NM_000159.4:c.572T>C NP_000150.1:p.Met191Thr NC_000019.10:12896057:T:C p.(Met191Thr) NC_000019.10:12896057:T:C p.(Met191Thr) NC_000019.10:12896057:T:C Identity +NM_001164098.2:c.1707C>G NP_001157570.1:p.Ser569Arg NC_000005.10:83520012:C:G p.(Ser569Arg) NC_000005.10:83520012:C:G p.(Ser569Arg) NC_000005.10:83520012:C:G Identity +NM_178170.3:c.1055G>T NP_835464.1:p.Arg352Leu NC_000017.11:28737983:G:T p.(Arg352Leu) NC_000017.11:28737983:G:T p.(Arg352Leu) NC_000017.11:28737983:G:T Identity +NM_033071.5:c.14050C>T NP_149062.2:p.Leu4684Phe NC_000006.12:152330421:G:A p.(Leu4684Phe) NC_000006.12:152330421:G:A p.(Leu4684Phe) NC_000006.12:152330421:G:A Identity +NM_004949.5:c.23G>T NP_004940.1:p.Gly8Val NC_000018.10:31101948:C:A p.(Gly8Val) NC_000018.10:31101948:C:A p.(Gly8Val) NC_000018.10:31101948:C:A Identity +NM_000138.5:c.6959A>T NP_000129.3:p.Asp2320Val NC_000015.10:48428383:T:A p.(Asp2320Val) NC_000015.10:48428383:T:A p.(Asp2320Val) NC_000015.10:48428383:T:A Identity +NM_000096.4:c.1632A>T NP_000087.2:p.Glu544Asp NC_000003.12:149198447:T:A p.(Glu544Asp) NC_000003.12:149198447:T:A p.(Glu544Asp) NC_000003.12:149198447:T:A Identity +NM_004369.4:c.4117G>A NP_004360.2:p.Ala1373Thr NC_000002.12:237371899:C:T p.(Ala1373Thr) NC_000002.12:237371899:C:T p.(Ala1373Thr) NC_000002.12:237371899:C:T Identity +NM_005592.4:c.929A>C NP_005583.1:p.Gln310Pro NC_000009.12:110767827:A:C p.(Gln310Pro) NC_000009.12:110767827:A:C p.(Gln310Pro) NC_000009.12:110767827:A:C Identity +NM_001141945.3:c.1026G>A NP_001135417.1:p.Trp342Ter NC_000010.11:88935330:C:T p.(Trp342Ter) NC_000010.11:88935330:C:T p.(Trp342Ter) NC_000010.11:88935330:C:T Identity +NM_001943.5:c.1843A>G NP_001934.2:p.Ile615Val NC_000018.10:31538941:A:G p.(Ile615Val) NC_000018.10:31538941:A:G p.(Ile615Val) NC_000018.10:31538941:A:G Identity +NM_001943.5:c.862G>A NP_001934.2:p.Val288Ile NC_000018.10:31524735:G:A p.(Val288Ile) NC_000018.10:31524735:G:A p.(Val288Ile) NC_000018.10:31524735:G:A Identity +NM_001008844.3:c.4084G>A NP_001008844.1:p.Val1362Ile NC_000006.12:7583142:G:A p.(Val1362Ile) NC_000006.12:7583142:G:A p.(Val1362Ile) NC_000006.12:7583142:G:A Identity +NM_000138.5:c.50T>C NP_000129.3:p.Leu17Ser NC_000015.10:48644719:A:G p.(Leu17Ser) NC_000015.10:48644719:A:G p.(Leu17Ser) NC_000015.10:48644719:A:G Identity +LRG_778t1:c.4516C>T LRG_778p1:p.Pro1506Ser NC_000015.10:48468477:G:A ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +LRG_778t1:c.5700T>A LRG_778p1:p.Cys1900Ter NC_000015.10:48446793:A:T ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_000138.5:c.5431G>A NP_000129.3:p.Glu1811Lys NC_000015.10:48452675:C:T p.(Glu1811Lys) NC_000015.10:48452675:C:T p.(Glu1811Lys) NC_000015.10:48452675:C:T Identity +NM_001163817.2:c.907G>A NP_001157289.1:p.Gly303Arg NC_000011.10:71437867:C:T p.(Gly303Arg) NC_000011.10:71437867:C:T p.(Gly303Arg) NC_000011.10:71437867:C:T Identity +NM_000360.4:c.748G>C NP_000351.2:p.Glu250Gln NC_000011.10:2166979:C:G p.(Glu250Gln) NC_000011.10:2166979:C:G p.(Glu250Gln) NC_000011.10:2166979:C:G Identity +NM_001080463.2:c.11702C>G NP_001073932.1:p.Ser3901Ter NC_000011.10:103316575:C:G p.(Ser3901Ter) NC_000011.10:103316575:C:G p.(Ser3901Ter) NC_000011.10:103316575:C:G Identity +NM_000430.4:c.907_910del NP_000421.1:p.Lys303fs NC_000017.11:2676507:AAAAAAA:AAA p.(Lys303ValfsTer29) NC_000017.11:2676507:AAAAAAA:AAA p.(Lys303ValfsTer29) NC_000017.11:2676510:AAAA: Analogous +NM_004560.4:c.2395C>T NP_004551.2:p.Pro799Ser NC_000009.12:91724098:G:A p.(Pro799Ser) NC_000009.12:91724098:G:A p.(Pro799Ser) NC_000009.12:91724098:G:A Identity +NM_001135940.2:c.713C>T NP_001129412.1:p.Thr238Ile NC_000005.10:137886937:C:T p.(Thr238Ile) NC_000005.10:137886937:C:T p.(Thr238Ile) NC_000005.10:137886937:C:T Identity +NM_004565.3:c.1013_1014inv NP_004556.1:p.Asp338Gly NC_000001.11:10629865:AC:GT p.(Asp338Gly) NC_000001.11:10629865:AC:GT p.(Asp338Gly) ERR:SPDI Identity +NM_001145847.2:c.1003A>G NP_001139319.1:p.Asn335Asp NC_000004.12:16016212:T:C p.(Asn335Asp) NC_000004.12:16016212:T:C p.(Asn335Asp) NC_000004.12:16016212:T:C Identity +NM_000218.3:c.1999G>A NP_000209.2:p.Val667Met NC_000011.10:2847970:G:A p.(Val667Met) NC_000011.10:2847970:G:A p.(Val667Met) NC_000011.10:2847970:G:A Identity +NM_001257374.3:c.1265C>T NP_001244303.1:p.Thr422Ile NC_000001.11:156137224:C:T p.(Thr422Ile) NC_000001.11:156137224:C:T p.(Thr422Ile) NC_000001.11:156137224:C:T Identity +NM_000238.4:c.1282T>C NP_000229.1:p.Ser428Pro NC_000007.14:150952699:A:G p.(Ser428Pro) NC_000007.14:150952699:A:G p.(Ser428Pro) NC_000007.14:150952699:A:G Identity +NM_000238.4:c.2780G>T NP_000229.1:p.Trp927Leu NC_000007.14:150947790:C:A p.(Trp927Leu) NC_000007.14:150947790:C:A p.(Trp927Leu) NC_000007.14:150947790:C:A Identity +NM_004415.4:c.4997G>A NP_004406.2:p.Arg1666Gln NC_000006.12:7581186:G:A p.(Arg1666Gln) NC_000006.12:7581186:G:A p.(Arg1666Gln) NC_000006.12:7581186:G:A Identity +NM_001008844.3:c.4382A>G NP_001008844.1:p.Asp1461Gly NC_000006.12:7583440:A:G p.(Asp1461Gly) NC_000006.12:7583440:A:G p.(Asp1461Gly) NC_000006.12:7583440:A:G Identity +NM_000138.5:c.3077T>C NP_000129.3:p.Phe1026Ser NC_000015.10:48489855:A:G p.(Phe1026Ser) NC_000015.10:48489855:A:G p.(Phe1026Ser) NC_000015.10:48489855:A:G Identity +NM_001943.5:c.3167C>T NP_001934.2:p.Thr1056Ile NC_000018.10:31546552:C:T p.(Thr1056Ile) NC_000018.10:31546552:C:T p.(Thr1056Ile) NC_000018.10:31546552:C:T Identity +NM_000244.4:c.667C>T NP_000235.3:p.Arg223Trp NC_000011.10:64807892:G:A p.(Arg223Trp) NC_000011.10:64807892:G:A p.(Arg223Trp) NC_000011.10:64807892:G:A Identity +NM_001370263.2:c.653C>T NP_001357192.2:p.Ser218Leu NC_000011.10:64807576:G:A p.(Ser218Leu) NC_000011.10:64807576:G:A p.(Ser218Leu) NC_000011.10:64807576:G:A Identity +NM_001040113.2:c.5296G>A NP_001035202.1:p.Val1766Ile NC_000016.10:15718334:C:T p.(Val1766Ile) NC_000016.10:15718334:C:T p.(Val1766Ile) NC_000016.10:15718334:C:T Identity +NM_000238.4:c.1519C>T NP_000229.1:p.Pro507Ser NC_000007.14:150952462:G:A p.(Pro507Ser) NC_000007.14:150952462:G:A p.(Pro507Ser) NC_000007.14:150952462:G:A Identity +NM_000238.4:c.2419del NP_000229.1:p.Glu807fs NC_000007.14:150949028:CCCC:CCC p.(Glu807SerfsTer3) NC_000007.14:150949028:CCCC:CCC p.(Glu807SerfsTer3) NC_000007.14:150949028:C: Analogous +NM_000218.3:c.1176G>A NP_000209.2:p.Trp392Ter NC_000011.10:2587616:G:A p.(Trp392Ter) NC_000011.10:2587616:G:A p.(Trp392Ter) NC_000011.10:2587616:G:A Identity +NM_000244.4:c.147dup NP_000235.3:p.Val50fs NC_000011.10:64809962:A:AA p.(Val50CysfsTer67) NC_000011.10:64809962:A:AA p.(Val50CysfsTer67) ERR:SPDI Analogous +NM_000540.3:c.2645C>T NP_000531.2:p.Ala882Val NC_000019.10:38463489:C:T p.(Ala882Val) NC_000019.10:38463489:C:T p.(Ala882Val) NC_000019.10:38463489:C:T Identity +NM_001035.3:c.3897C>G NP_001026.2:p.Ile1299Met NC_000001.11:237590728:C:G p.(Ile1299Met) NC_000001.11:237590728:C:G p.(Ile1299Met) NC_000001.11:237590728:C:G Identity +NM_000138.5:c.2022G>C NP_000129.3:p.Leu674Phe NC_000015.10:48503877:C:G p.(Leu674Phe) NC_000015.10:48503877:C:G p.(Leu674Phe) NC_000015.10:48503877:C:G Identity +NM_000138.5:c.6628T>C NP_000129.3:p.Cys2210Arg NC_000015.10:48432976:A:G p.(Cys2210Arg) NC_000015.10:48432976:A:G p.(Cys2210Arg) NC_000015.10:48432976:A:G Identity +NM_000138.5:c.7599del NP_000129.3:p.Leu2534fs NC_000015.10:48421657:A: p.(Leu2534CysfsTer148) NC_000015.10:48421657:A: p.(Leu2534CysfsTer148) NC_000015.10:48421657:A: Analogous +LRG_288t2:c.2551A>G LRG_288p2:p.Ser851Gly NC_000007.14:150950014:T:C ERR:Data provider error: ValueError: Transcript LRG_288t2 not found ERR:Data provider error: ValueError: Transcript LRG_288t2 not found ERR:AlignmentMapper(tx_ac=LRG_288t2, alt_ac=LRG_288t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t2, alt_ac=LRG_288t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t2 not found +NM_001040113.2:c.1753A>G NP_001035202.1:p.Ile585Val NC_000016.10:15756357:T:C p.(Ile585Val) NC_000016.10:15756357:T:C p.(Ile585Val) NC_000016.10:15756357:T:C Identity +NM_001040113.2:c.3146G>A NP_001035202.1:p.Arg1049Gln NC_000016.10:15737616:C:T p.(Arg1049Gln) NC_000016.10:15737616:C:T p.(Arg1049Gln) NC_000016.10:15737616:C:T Identity +NM_001040113.2:c.4424C>T NP_001035202.1:p.Ala1475Val NC_000016.10:15721596:G:A p.(Ala1475Val) NC_000016.10:15721596:G:A p.(Ala1475Val) NC_000016.10:15721596:G:A Identity +NM_001040113.2:c.5687C>T NP_001035202.1:p.Ala1896Val NC_000016.10:15715028:G:A p.(Ala1896Val) NC_000016.10:15715028:G:A p.(Ala1896Val) NC_000016.10:15715028:G:A Identity +LRG_402t1:c.3823G>A LRG_402p1:p.Gly1275Ser NC_000001.11:237590654:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.8262G>C LRG_402p1:p.Gln2754His NC_000001.11:237660037:G:C ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001103.4:c.2644G>A NP_001094.1:p.Ala882Thr NC_000001.11:236762577:G:A p.(Ala882Thr) NC_000001.11:236762577:G:A p.(Ala882Thr) NC_000001.11:236762577:G:A Identity +NM_033118.4:c.281C>T NP_149109.1:p.Pro94Leu NC_000020.11:31820353:C:T p.(Pro94Leu) NC_000020.11:31820353:C:T p.(Pro94Leu) NC_000020.11:31820353:C:T Identity +NM_001256267.2:c.3916G>A NP_001243196.1:p.Val1306Met NC_000010.11:68210407:G:A p.(Val1306Met) NC_000010.11:68210407:G:A p.(Val1306Met) NC_000010.11:68210407:G:A Identity +NM_006393.3:c.2644C>T NP_006384.1:p.Arg882Ter NC_000010.11:20808626:G:A p.(Arg882Ter) NC_000010.11:20808626:G:A p.(Arg882Ter) NC_000010.11:20808626:G:A Identity +NM_001256850.1:c.51453A>G NP_001243779.1:p.Ile17151Met NC_000002.12:178599416:T:C p.(Ile17151Met) NC_000002.12:178599416:T:C p.(Ile17151Met) NC_000002.12:178599416:T:C Identity +NM_001256850.1:c.90847del NP_001243779.1:p.His30283fs NC_000002.12:178544458:G: p.(His30283ThrfsTer19) NC_000002.12:178544458:G: p.(His30283ThrfsTer19) NC_000002.12:178544458:G: Analogous +NM_001256850.1:c.92206_92207dup NP_001243779.1:p.Leu30738fs NC_000002.12:178542723:TAT:TATAT p.(Leu30738HisfsTer4) NC_000002.12:178542723:TAT:TATAT p.(Leu30738HisfsTer4) ERR:SPDI Analogous +NM_001256850.1:c.30163G>C NP_001243779.1:p.Glu10055Gln NC_000002.12:178695957:C:G p.(Glu10055Gln) NC_000002.12:178695957:C:G p.(Glu10055Gln) NC_000002.12:178695957:C:G Identity +NM_001267550.2:c.38161G>T NP_001254479.2:p.Val12721Leu NC_000002.12:178654789:C:A p.(Val12721Leu) NC_000002.12:178654789:C:A p.(Val12721Leu) NC_000002.12:178654789:C:A Identity +NM_001256850.1:c.38128T>G NP_001243779.1:p.Trp12710Gly NC_000002.12:178633221:A:C p.(Trp12710Gly) NC_000002.12:178633221:A:C p.(Trp12710Gly) NC_000002.12:178633221:A:C Identity +NM_001256850.1:c.72434C>T NP_001243779.1:p.Ala24145Val NC_000002.12:178568774:G:A p.(Ala24145Val) NC_000002.12:178568774:G:A p.(Ala24145Val) NC_000002.12:178568774:G:A Identity +NM_001256850.1:c.80192G>A NP_001243779.1:p.Gly26731Glu NC_000002.12:178561016:C:T p.(Gly26731Glu) NC_000002.12:178561016:C:T p.(Gly26731Glu) NC_000002.12:178561016:C:T Identity +NM_001256850.1:c.94475A>C NP_001243779.1:p.Lys31492Thr NC_000002.12:178537808:T:G p.(Lys31492Thr) NC_000002.12:178537808:T:G p.(Lys31492Thr) NC_000002.12:178537808:T:G Identity +NM_001256850.1:c.102277G>A NP_001243779.1:p.Glu34093Lys NC_000002.12:178528550:C:T p.(Glu34093Lys) NC_000002.12:178528550:C:T p.(Glu34093Lys) NC_000002.12:178528550:C:T Identity +NM_001256850.1:c.102379G>A NP_001243779.1:p.Asp34127Asn NC_000002.12:178528348:C:T p.(Asp34127Asn) NC_000002.12:178528348:C:T p.(Asp34127Asn) NC_000002.12:178528348:C:T Identity +NM_001267550.2:c.10844G>A NP_001254479.2:p.Ser3615Asn NC_000002.12:178756631:C:T p.(Ser3615Asn) NC_000002.12:178756631:C:T p.(Ser3615Asn) NC_000002.12:178756631:C:T Identity +NM_001256850.1:c.25793C>G NP_001243779.1:p.Ala8598Gly NC_000002.12:178713913:G:C p.(Ala8598Gly) NC_000002.12:178713913:G:C p.(Ala8598Gly) NC_000002.12:178713913:G:C Identity +NM_000018.4:c.1097G>A NP_000009.1:p.Arg366His NC_000017.11:7223151:G:A p.(Arg366His) NC_000017.11:7223151:G:A p.(Arg366His) NC_000017.11:7223151:G:A Identity +NM_001127214.4:c.29G>A NP_001120686.1:p.Arg10Gln NC_000016.10:89100709:G:A p.(Arg10Gln) NC_000016.10:89100709:G:A p.(Arg10Gln) NC_000016.10:89100709:G:A Identity +NM_000108.5:c.82T>C NP_000099.2:p.Ser28Pro NC_000007.14:107893241:T:C p.(Ser28Pro) NC_000007.14:107893241:T:C p.(Ser28Pro) NC_000007.14:107893241:T:C Identity +NM_001407240.1:c.1528C>T NP_001394169.1:p.Arg510Trp NC_000001.11:55058548:C:T p.(Arg510Trp) NC_000001.11:55058548:C:T p.(Arg510Trp) NC_000001.11:55058548:C:T Identity +LRG_402t1:c.7385C>T LRG_402p1:p.Pro2462Leu NC_000001.11:237648485:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000335.5:c.1939G>T NP_000326.2:p.Ala647Ser NC_000003.12:38599001:C:A p.(Ala647Ser) NC_000003.12:38599001:C:A p.(Ala647Ser) NC_000003.12:38599001:C:A Identity +NM_000335.5:c.3820G>T NP_000326.2:p.Asp1274Tyr NC_000003.12:38566425:C:A p.(Asp1274Tyr) NC_000003.12:38566425:C:A p.(Asp1274Tyr) NC_000003.12:38566425:C:A Identity +LRG_402t1:c.13735C>T LRG_402p1:p.His4579Tyr NC_000001.11:237792275:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000335.5:c.4400T>C NP_000326.2:p.Val1467Ala NC_000003.12:38556474:A:G p.(Val1467Ala) NC_000003.12:38556474:A:G p.(Val1467Ala) NC_000003.12:38556474:A:G Identity +NM_000335.5:c.4978G>A NP_000326.2:p.Gly1660Arg NC_000003.12:38551390:C:T p.(Gly1660Arg) NC_000003.12:38551390:C:T p.(Gly1660Arg) NC_000003.12:38551390:C:T Identity +NM_000335.5:c.3488dup NP_000326.2:p.Glu1164fs NC_000003.12:38576680:GGG:GGGG p.(Glu1164ArgfsTer6) NC_000003.12:38576680:GGG:GGGG p.(Glu1164ArgfsTer6) ERR:SPDI Analogous +NM_001927.4:c.233G>T NP_001918.3:p.Arg78Leu NC_000002.12:219418694:G:T p.(Arg78Leu) NC_000002.12:219418694:G:T p.(Arg78Leu) NC_000002.12:219418694:G:T Identity +NM_000109.4:c.5073C>A NP_000100.3:p.Asp1691Glu NC_000023.11:32364638:G:T p.(Asp1691Glu) NC_000023.11:32364638:G:T p.(Asp1691Glu) NC_000023.11:32364638:G:T Identity +LRG_402t1:c.32T>C LRG_402p1:p.Ile11Thr NC_000001.11:237042552:T:C ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.13315C>A LRG_402p1:p.Pro4439Thr NC_000001.11:237786022:C:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000335.5:c.421A>T NP_000326.2:p.Ile141Phe NC_000003.12:38622460:T:A p.(Ile141Phe) NC_000003.12:38622460:T:A p.(Ile141Phe) NC_000003.12:38622460:T:A Identity +NM_001103.4:c.1348G>T NP_001094.1:p.Asp450Tyr NC_000001.11:236744717:G:T p.(Asp450Tyr) NC_000001.11:236744717:G:T p.(Asp450Tyr) NC_000001.11:236744717:G:T Identity +NM_000109.4:c.3004G>C NP_000100.3:p.Ala1002Pro NC_000023.11:32468631:C:G p.(Ala1002Pro) NC_000023.11:32468631:C:G p.(Ala1002Pro) NC_000023.11:32468631:C:G Identity +NM_001352773.2:c.809T>A NP_001339702.1:p.Leu270Gln NC_000017.11:41767478:A:T p.(Leu270Gln) NC_000017.11:41767478:A:T p.(Leu270Gln) NC_000017.11:41767478:A:T Identity +NM_000335.5:c.5357G>C NP_000326.2:p.Ser1786Thr NC_000003.12:38551011:C:G p.(Ser1786Thr) NC_000003.12:38551011:C:G p.(Ser1786Thr) NC_000003.12:38551011:C:G Identity +NM_003000.3:c.210dup NP_002991.2:p.Met71fs NC_000001.11:17033135:GGGG:GGGGG p.(Met71HisfsTer10) NC_000001.11:17033135:GGGG:GGGGG p.(Met71HisfsTer10) ERR:SPDI Analogous +NM_001165963.4:c.4444A>C NP_001159435.1:p.Ile1482Leu NC_000002.12:165998069:T:G p.(Ile1482Leu) NC_000002.12:165998069:T:G p.(Ile1482Leu) NC_000002.12:165998069:T:G Identity +NM_001256850.1:c.78010C>T NP_001243779.1:p.Arg26004Cys NC_000002.12:178563198:G:A p.(Arg26004Cys) NC_000002.12:178563198:G:A p.(Arg26004Cys) NC_000002.12:178563198:G:A Identity +NM_001256850.1:c.38710dup NP_001243779.1:p.Gln12904fs NC_000002.12:178632260:G:GG p.(Gln12904ProfsTer17) NC_000002.12:178632260:G:GG p.(Gln12904ProfsTer17) ERR:SPDI Analogous +NM_001172309.2:c.1541G>C NP_001165780.1:p.Arg514Thr NC_000001.11:77942533:G:C p.(Arg514Thr) NC_000001.11:77942533:G:C p.(Arg514Thr) NC_000001.11:77942533:G:C Identity +NM_133378.4:c.28294A>G NP_596869.4:p.Lys9432Glu NC_000002.12:178689121:T:C p.(Lys9432Glu) NC_000002.12:178689121:T:C p.(Lys9432Glu) NC_000002.12:178689121:T:C Identity +NM_001256850.1:c.41486G>A NP_001243779.1:p.Arg13829His NC_000002.12:178620007:C:T p.(Arg13829His) NC_000002.12:178620007:C:T p.(Arg13829His) NC_000002.12:178620007:C:T Identity +NM_001256850.1:c.45874G>A NP_001243779.1:p.Ala15292Thr NC_000002.12:178611431:C:T p.(Ala15292Thr) NC_000002.12:178611431:C:T p.(Ala15292Thr) NC_000002.12:178611431:C:T Identity +NM_001256850.1:c.58208T>C NP_001243779.1:p.Ile19403Thr NC_000002.12:178588593:A:G p.(Ile19403Thr) NC_000002.12:178588593:A:G p.(Ile19403Thr) NC_000002.12:178588593:A:G Identity +NM_001256850.1:c.59731A>G NP_001243779.1:p.Ile19911Val NC_000002.12:178585089:T:C p.(Ile19911Val) NC_000002.12:178585089:T:C p.(Ile19911Val) NC_000002.12:178585089:T:C Identity +NM_001256850.1:c.31732G>T NP_001243779.1:p.Val10578Phe NC_000002.12:178684368:C:A p.(Val10578Phe) NC_000002.12:178684368:C:A p.(Val10578Phe) NC_000002.12:178684368:C:A Identity +NM_003373.4:c.1238C>T NP_003364.1:p.Ala413Val NC_000010.11:74090083:C:T p.(Ala413Val) NC_000010.11:74090083:C:T p.(Ala413Val) NC_000010.11:74090083:C:T Identity +NM_001256850.1:c.73097T>C NP_001243779.1:p.Met24366Thr NC_000002.12:178568111:A:G p.(Met24366Thr) NC_000002.12:178568111:A:G p.(Met24366Thr) NC_000002.12:178568111:A:G Identity +NM_001256850.1:c.95524G>C NP_001243779.1:p.Glu31842Gln NC_000002.12:178536299:C:G p.(Glu31842Gln) NC_000002.12:178536299:C:G p.(Glu31842Gln) NC_000002.12:178536299:C:G Identity +NM_001256850.1:c.98548G>C NP_001243779.1:p.Glu32850Gln NC_000002.12:178533143:C:G p.(Glu32850Gln) NC_000002.12:178533143:C:G p.(Glu32850Gln) NC_000002.12:178533143:C:G Identity +NM_001256850.1:c.82565A>G NP_001243779.1:p.Lys27522Arg NC_000002.12:178557865:T:C p.(Lys27522Arg) NC_000002.12:178557865:T:C p.(Lys27522Arg) NC_000002.12:178557865:T:C Identity +NM_133437.4:c.66647G>A NP_597681.4:p.Arg22216His NC_000002.12:178548359:C:T p.(Arg22216His) NC_000002.12:178548359:C:T p.(Arg22216His) NC_000002.12:178548359:C:T Identity +NM_001256850.1:c.94036T>C NP_001243779.1:p.Ser31346Pro NC_000002.12:178538975:A:G p.(Ser31346Pro) NC_000002.12:178538975:A:G p.(Ser31346Pro) NC_000002.12:178538975:A:G Identity +NM_001256850.1:c.38804_38805del NP_001243779.1:p.Glu12935fs NC_000002.12:178632165:TT: p.(Glu12935GlyfsTer2) NC_000002.12:178632165:TT: p.(Glu12935GlyfsTer2) NC_000002.12:178632165:TT: Analogous +NM_001256850.1:c.19756A>G NP_001243779.1:p.Ile6586Val NC_000002.12:178725496:T:C p.(Ile6586Val) NC_000002.12:178725496:T:C p.(Ile6586Val) NC_000002.12:178725496:T:C Identity +NM_001256850.1:c.8459A>G NP_001243779.1:p.His2820Arg NC_000002.12:178770241:T:C p.(His2820Arg) NC_000002.12:178770241:T:C p.(His2820Arg) NC_000002.12:178770241:T:C Identity +NM_001256850.1:c.57863T>C NP_001243779.1:p.Ile19288Thr NC_000002.12:178588938:A:G p.(Ile19288Thr) NC_000002.12:178588938:A:G p.(Ile19288Thr) NC_000002.12:178588938:A:G Identity +NM_001281737.2:c.1210G>C NP_001268666.1:p.Val404Leu NC_000004.12:158706253:G:C p.(Val404Leu) NC_000004.12:158706253:G:C p.(Val404Leu) NC_000004.12:158706253:G:C Identity +NM_001256850.1:c.89903A>G NP_001243779.1:p.Tyr29968Cys NC_000002.12:178546601:T:C p.(Tyr29968Cys) NC_000002.12:178546601:T:C p.(Tyr29968Cys) NC_000002.12:178546601:T:C Identity +NM_001256850.1:c.98986C>T NP_001243779.1:p.Arg32996Trp NC_000002.12:178532705:G:A p.(Arg32996Trp) NC_000002.12:178532705:G:A p.(Arg32996Trp) NC_000002.12:178532705:G:A Identity +NM_133379.5:c.12337A>G NP_596870.2:p.Ile4113Val NC_000002.12:178750062:T:C p.(Ile4113Val) NC_000002.12:178750062:T:C p.(Ile4113Val) NC_000002.12:178750062:T:C Identity +NM_001256850.1:c.13099G>A NP_001243779.1:p.Gly4367Arg NC_000002.12:178739182:C:T p.(Gly4367Arg) NC_000002.12:178739182:C:T p.(Gly4367Arg) NC_000002.12:178739182:C:T Identity +NM_001256850.1:c.17120A>G NP_001243779.1:p.Asn5707Ser NC_000002.12:178730328:T:C p.(Asn5707Ser) NC_000002.12:178730328:T:C p.(Asn5707Ser) NC_000002.12:178730328:T:C Identity +NM_001281737.2:c.932G>A NP_001268666.1:p.Arg311Lys NC_000004.12:158699086:G:A p.(Arg311Lys) NC_000004.12:158699086:G:A p.(Arg311Lys) NC_000004.12:158699086:G:A Identity +NM_000098.3:c.1048C>T NP_000089.1:p.Arg350Cys NC_000001.11:53210721:C:T p.(Arg350Cys) NC_000001.11:53210721:C:T p.(Arg350Cys) NC_000001.11:53210721:C:T Identity +NM_001014763.1:c.505G>A NP_001014763.1:p.Ala169Thr NC_000019.10:51353274:C:T p.(Ala169Thr) NC_000019.10:51353274:C:T p.(Ala169Thr) NC_000019.10:51353274:C:T Identity +NM_000920.4:c.1292C>G NP_000911.2:p.Ala431Gly NC_000011.10:66863849:G:C p.(Ala431Gly) NC_000011.10:66863849:G:C p.(Ala431Gly) NC_000011.10:66863849:G:C Identity +NM_003849.4:c.341C>T NP_003840.2:p.Thr114Met NC_000002.12:84441436:G:A p.(Thr114Met) NC_000002.12:84441436:G:A p.(Thr114Met) NC_000002.12:84441436:G:A Identity +NM_000030.3:c.130C>T NP_000021.1:p.Gln44Ter NC_000002.12:240868994:C:T p.(Gln44Ter) NC_000002.12:240868994:C:T p.(Gln44Ter) NC_000002.12:240868994:C:T Identity +NM_003849.4:c.502A>G NP_003840.2:p.Ile168Val NC_000002.12:84441275:T:C p.(Ile168Val) NC_000002.12:84441275:T:C p.(Ile168Val) NC_000002.12:84441275:T:C Identity +NM_017866.6:c.764G>A NP_060336.3:p.Arg255Gln NC_000008.11:73981601:G:A p.(Arg255Gln) NC_000008.11:73981601:G:A p.(Arg255Gln) NC_000008.11:73981601:G:A Identity +NM_003850.3:c.1076A>C NP_003841.1:p.Glu359Ala NC_000013.11:47954170:T:G p.(Glu359Ala) NC_000013.11:47954170:T:G p.(Glu359Ala) NC_000013.11:47954170:T:G Identity +NM_000135.4:c.2762A>T NP_000126.2:p.Lys921Ile NC_000016.10:89764905:T:A p.(Lys921Ile) NC_000016.10:89764905:T:A p.(Lys921Ile) NC_000016.10:89764905:T:A Identity +NM_000255.4:c.754C>T NP_000246.2:p.His252Tyr NC_000006.12:49456236:G:A p.(His252Tyr) NC_000006.12:49456236:G:A p.(His252Tyr) NC_000006.12:49456236:G:A Identity +NM_000030.3:c.205C>T NP_000021.1:p.Gln69Ter NC_000002.12:240869208:C:T p.(Gln69Ter) NC_000002.12:240869208:C:T p.(Gln69Ter) NC_000002.12:240869208:C:T Identity +NM_001172895.1:c.307del NP_001166366.1:p.Ile103fs NC_000007.14:116559149:A: p.(Ile103LeufsTer5) NC_000007.14:116559149:A: p.(Ile103LeufsTer5) NC_000007.14:116559149:A: Analogous +NM_012203.2:c.203T>C NP_036335.1:p.Leu68Pro NC_000009.12:37424963:T:C p.(Leu68Pro) NC_000009.12:37424963:T:C p.(Leu68Pro) NC_000009.12:37424963:T:C Identity +NM_001354989.2:c.3065C>T NP_001341918.1:p.Ala1022Val NC_000005.10:180616930:G:A p.(Ala1022Val) NC_000005.10:180616930:G:A p.(Ala1022Val) NC_000005.10:180616930:G:A Identity +NM_001182.5:c.607T>G NP_001173.2:p.Trp203Gly NC_000005.10:126577121:A:C p.(Trp203Gly) NC_000005.10:126577121:A:C p.(Trp203Gly) NC_000005.10:126577121:A:C Identity +NM_000026.4:c.1115G>A NP_000017.1:p.Arg372His NC_000022.11:40364288:G:A p.(Arg372His) NC_000022.11:40364288:G:A p.(Arg372His) NC_000022.11:40364288:G:A Identity +NM_001182.5:c.31_33delinsGAG NP_001173.2:p.His11Glu NC_000005.10:126595165:GTG:CTC p.(His11Glu) NC_000005.10:126595165:GTG:CTC p.(His11Glu) NC_000005.10:126595165:GTG:CTC Identity +NM_001182.5:c.1022G>A NP_001173.2:p.Ser341Asn NC_000005.10:126556001:C:T p.(Ser341Asn) NC_000005.10:126556001:C:T p.(Ser341Asn) NC_000005.10:126556001:C:T Identity +NM_001182.5:c.1016A>G NP_001173.2:p.His339Arg NC_000005.10:126556007:T:C p.(His339Arg) NC_000005.10:126556007:T:C p.(His339Arg) NC_000005.10:126556007:T:C Identity +NM_001182.5:c.200C>T NP_001173.2:p.Thr67Met NC_000005.10:126593396:G:A p.(Thr67Met) NC_000005.10:126593396:G:A p.(Thr67Met) NC_000005.10:126593396:G:A Identity +NM_000748.3:c.1314G>A NP_000739.1:p.Met438Ile NC_000001.11:154572136:G:A p.(Met438Ile) NC_000001.11:154572136:G:A p.(Met438Ile) NC_000001.11:154572136:G:A Identity +NM_000748.3:c.329A>C NP_000739.1:p.Lys110Thr NC_000001.11:154570330:A:C p.(Lys110Thr) NC_000001.11:154570330:A:C p.(Lys110Thr) NC_000001.11:154570330:A:C Identity +NM_000748.3:c.910A>G NP_000739.1:p.Thr304Ala NC_000001.11:154571732:A:G p.(Thr304Ala) NC_000001.11:154571732:A:G p.(Thr304Ala) NC_000001.11:154571732:A:G Identity +NM_014141.6:c.1273G>A NP_054860.1:p.Asp425Asn NC_000007.14:147132433:G:A p.(Asp425Asn) NC_000007.14:147132433:G:A p.(Asp425Asn) NC_000007.14:147132433:G:A Identity +NM_014141.6:c.181G>A NP_054860.1:p.Gly61Ser NC_000007.14:146774353:G:A p.(Gly61Ser) NC_000007.14:146774353:G:A p.(Gly61Ser) NC_000007.14:146774353:G:A Identity +NM_000086.2:c.868G>T NP_000077.1:p.Val290Leu NC_000016.10:28482514:C:A p.(Val290Leu) NC_000016.10:28482514:C:A p.(Val290Leu) NC_000016.10:28482514:C:A Identity +NM_000816.3:c.1289G>A NP_000807.2:p.Arg430Lys NC_000005.10:162153252:G:A p.(Arg430Lys) NC_000005.10:162153252:G:A p.(Arg430Lys) NC_000005.10:162153252:G:A Identity +NM_006493.4:c.775A>G NP_006484.2:p.Ile259Val NC_000013.11:77000666:A:G p.(Ile259Val) NC_000013.11:77000666:A:G p.(Ile259Val) NC_000013.11:77000666:A:G Identity +NM_014141.6:c.2147A>G NP_054860.1:p.Tyr716Cys NC_000007.14:147903612:A:G p.(Tyr716Cys) NC_000007.14:147903612:A:G p.(Tyr716Cys) NC_000007.14:147903612:A:G Identity +NM_005249.5:c.586C>T NP_005240.3:p.Gln196Ter NC_000014.9:28767864:C:T p.(Gln196Ter) NC_000014.9:28767864:C:T p.(Gln196Ter) NC_000014.9:28767864:C:T Identity +NM_000806.5:c.799C>A NP_000797.2:p.Leu267Ile NC_000005.10:161890992:C:A p.(Leu267Ile) NC_000005.10:161890992:C:A p.(Leu267Ile) NC_000005.10:161890992:C:A Identity +NM_000833.5:c.4330G>A NP_000824.1:p.Val1444Ile NC_000016.10:9763213:C:T p.(Val1444Ile) NC_000016.10:9763213:C:T p.(Val1444Ile) NC_000016.10:9763213:C:T Identity +NM_001193465.2:c.1124C>T NP_001180394.1:p.Ser375Leu NC_000017.11:46171019:G:A p.(Ser375Leu) NC_000017.11:46171019:G:A p.(Ser375Leu) NC_000017.11:46171019:G:A Identity +NM_002241.5:c.221C>T NP_002232.2:p.Thr74Ile NC_000001.11:160042311:G:A p.(Thr74Ile) NC_000001.11:160042311:G:A p.(Thr74Ile) NC_000001.11:160042311:G:A Identity +NM_005249.5:c.506G>C NP_005240.3:p.Gly169Ala NC_000014.9:28767784:G:C p.(Gly169Ala) NC_000014.9:28767784:G:C p.(Gly169Ala) NC_000014.9:28767784:G:C Identity +NM_000806.5:c.859G>A NP_000797.2:p.Val287Ile NC_000005.10:161895667:G:A p.(Val287Ile) NC_000005.10:161895667:G:A p.(Val287Ile) NC_000005.10:161895667:G:A Identity +NM_001375339.1:c.13A>T NP_001362268.1:p.Asn5Tyr NC_000005.10:162068011:A:T p.(Asn5Tyr) NC_000005.10:162068011:A:T p.(Asn5Tyr) NC_000005.10:162068011:A:T Identity +NM_004518.6:c.583T>C NP_004509.2:p.Ser195Pro NC_000020.11:63444765:A:G p.(Ser195Pro) NC_000020.11:63444765:A:G p.(Ser195Pro) NC_000020.11:63444765:A:G Identity +NM_004518.6:c.790T>A NP_004509.2:p.Tyr264Asn NC_000020.11:63442431:A:T p.(Tyr264Asn) NC_000020.11:63442431:A:T p.(Tyr264Asn) NC_000020.11:63442431:A:T Identity +NM_004518.6:c.1573C>T NP_004509.2:p.Arg525Trp NC_000020.11:63413555:G:A p.(Arg525Trp) NC_000020.11:63413555:G:A p.(Arg525Trp) NC_000020.11:63413555:G:A Identity +NM_001363700.2:c.328A>G NP_001350629.1:p.Thr110Ala NC_000004.12:39467545:A:G p.(Thr110Ala) NC_000004.12:39467545:A:G p.(Thr110Ala) NC_000004.12:39467545:A:G Identity +NM_000833.5:c.3332G>T NP_000824.1:p.Ser1111Ile NC_000016.10:9764211:C:A p.(Ser1111Ile) NC_000016.10:9764211:C:A p.(Ser1111Ile) NC_000016.10:9764211:C:A Identity +NM_000834.5:c.52G>A NP_000825.2:p.Val18Ile NC_000012.12:13866156:C:T p.(Val18Ile) NC_000012.12:13866156:C:T p.(Val18Ile) NC_000012.12:13866156:C:T Identity +NM_000833.5:c.2197G>A NP_000824.1:p.Ala733Thr NC_000016.10:9798435:C:T p.(Ala733Thr) NC_000016.10:9798435:C:T p.(Ala733Thr) NC_000016.10:9798435:C:T Identity +NM_000833.5:c.3612C>A NP_000824.1:p.Ser1204Arg NC_000016.10:9763931:G:T p.(Ser1204Arg) NC_000016.10:9763931:G:T p.(Ser1204Arg) NC_000016.10:9763931:G:T Identity +NM_001193465.2:c.1423G>A NP_001180394.1:p.Ala475Thr NC_000017.11:46094567:C:T p.(Ala475Thr) NC_000017.11:46094567:C:T p.(Ala475Thr) NC_000017.11:46094567:C:T Identity +NM_001131005.2:c.950G>C NP_001124477.1:p.Ser317Thr NC_000005.10:88728612:C:G p.(Ser317Thr) NC_000005.10:88728612:C:G p.(Ser317Thr) NC_000005.10:88728612:C:G Identity +NM_001204824.2:c.1360C>A NP_001191753.1:p.Pro454Thr NC_000008.11:132134368:G:T p.(Pro454Thr) NC_000008.11:132134368:G:T p.(Pro454Thr) NC_000008.11:132134368:G:T Identity +NM_001167961.2:c.704G>C NP_001161433.1:p.Trp235Ser NC_000007.14:66639065:G:C p.(Trp235Ser) NC_000007.14:66639065:G:C p.(Trp235Ser) NC_000007.14:66639065:G:C Identity +NM_001378120.1:c.1055C>T NP_001365049.1:p.Thr352Ile NC_000002.12:148468997:C:T p.(Thr352Ile) NC_000002.12:148468997:C:T p.(Thr352Ile) NC_000002.12:148468997:C:T Identity +NM_001378120.1:c.4075T>C NP_001365049.1:p.Phe1359Leu NC_000002.12:148489706:T:C p.(Phe1359Leu) NC_000002.12:148489706:T:C p.(Phe1359Leu) NC_000002.12:148489706:T:C Identity +NM_198586.3:c.1072A>C NP_940988.2:p.Met358Leu NC_000006.12:18121534:T:G p.(Met358Leu) NC_000006.12:18121534:T:G p.(Met358Leu) NC_000006.12:18121534:T:G Identity +NM_001135659.3:c.880A>G NP_001129131.1:p.Asn294Asp NC_000002.12:50925946:T:C p.(Asn294Asp) NC_000002.12:50925946:T:C p.(Asn294Asp) NC_000002.12:50925946:T:C Identity +NM_001135659.3:c.208T>C NP_001129131.1:p.Phe70Leu NC_000002.12:51028065:A:G p.(Phe70Leu) NC_000002.12:51028065:A:G p.(Phe70Leu) NC_000002.12:51028065:A:G Identity +NM_001135659.3:c.3715G>A NP_001129131.1:p.Ala1239Thr NC_000002.12:50091445:C:T p.(Ala1239Thr) NC_000002.12:50091445:C:T p.(Ala1239Thr) NC_000002.12:50091445:C:T Identity +NM_001135659.3:c.570C>A NP_001129131.1:p.Asn190Lys NC_000002.12:51027703:G:T p.(Asn190Lys) NC_000002.12:51027703:G:T p.(Asn190Lys) NC_000002.12:51027703:G:T Identity +NM_001105243.2:c.369C>A NP_001098713.1:p.Asn123Lys NC_000023.11:100408228:G:T p.(Asn123Lys) NC_000023.11:100408228:G:T p.(Asn123Lys) NC_000023.11:100408228:G:T Identity +NM_007254.4:c.1003G>T NP_009185.2:p.Gly335Cys NC_000019.10:49862396:C:A p.(Gly335Cys) NC_000019.10:49862396:C:A p.(Gly335Cys) NC_000019.10:49862396:C:A Identity +NM_007254.4:c.179G>A NP_009185.2:p.Arg60Gln NC_000019.10:49866417:C:T p.(Arg60Gln) NC_000019.10:49866417:C:T p.(Arg60Gln) NC_000019.10:49866417:C:T Identity +NM_007254.4:c.883G>A NP_009185.2:p.Ala295Thr NC_000019.10:49862590:C:T p.(Ala295Thr) NC_000019.10:49862590:C:T p.(Ala295Thr) NC_000019.10:49862590:C:T Identity +NM_001126131.2:c.2620T>A NP_001119603.1:p.Leu874Met NC_000015.10:89321238:A:T p.(Leu874Met) NC_000015.10:89321238:A:T p.(Leu874Met) NC_000015.10:89321238:A:T Identity +NM_001126131.2:c.488C>T NP_001119603.1:p.Pro163Leu NC_000015.10:89333266:G:A p.(Pro163Leu) NC_000015.10:89333266:G:A p.(Pro163Leu) NC_000015.10:89333266:G:A Identity +NM_001135659.3:c.3008del NP_001129131.1:p.His1003fs NC_000002.12:50496086:T: p.(His1003LeufsTer29) NC_000002.12:50496086:T: p.(His1003LeufsTer29) NC_000002.12:50496086:T: Analogous +LRG_843t1:c.696T>A LRG_843p1:p.Asn232Lys NC_000023.11:100407901:A:T ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_843t1 not found +NM_001256442.2:c.638G>A NP_001243371.1:p.Gly213Glu NC_000016.10:29813691:G:A p.(Gly213Glu) NC_000016.10:29813691:G:A p.(Gly213Glu) NC_000016.10:29813691:G:A Identity +NM_001165963.4:c.4162G>A NP_001159435.1:p.Glu1388Lys NC_000002.12:166002593:C:T p.(Glu1388Lys) NC_000002.12:166002593:C:T p.(Glu1388Lys) NC_000002.12:166002593:C:T Identity +NM_000310.4:c.310A>G NP_000301.1:p.Lys104Glu NC_000001.11:40092096:T:C p.(Lys104Glu) NC_000001.11:40092096:T:C p.(Lys104Glu) NC_000001.11:40092096:T:C Identity +NM_000310.4:c.62C>T NP_000301.1:p.Ser21Phe NC_000001.11:40097176:G:A p.(Ser21Phe) NC_000001.11:40097176:G:A p.(Ser21Phe) NC_000001.11:40097176:G:A Identity +NM_000310.4:c.175G>A NP_000301.1:p.Glu59Lys NC_000001.11:40092456:C:T p.(Glu59Lys) NC_000001.11:40092456:C:T p.(Glu59Lys) NC_000001.11:40092456:C:T Identity +NM_001165963.4:c.4793A>T NP_001159435.1:p.Tyr1598Phe NC_000002.12:165994204:T:A p.(Tyr1598Phe) NC_000002.12:165994204:T:A p.(Tyr1598Phe) NC_000002.12:165994204:T:A Identity +NM_001165963.4:c.5771G>A NP_001159435.1:p.Arg1924His NC_000002.12:165991503:C:T p.(Arg1924His) NC_000002.12:165991503:C:T p.(Arg1924His) NC_000002.12:165991503:C:T Identity +NM_001040142.2:c.100G>A NP_001035232.1:p.Ala34Thr NC_000002.12:165295922:G:A p.(Ala34Thr) NC_000002.12:165295922:G:A p.(Ala34Thr) NC_000002.12:165295922:G:A Identity +NM_001144881.2:c.1676C>T NP_001138353.1:p.Ser559Leu NC_000012.12:42460628:G:A p.(Ser559Leu) NC_000012.12:42460628:G:A p.(Ser559Leu) NC_000012.12:42460628:G:A Identity +NM_001204255.2:c.80G>A NP_001191184.1:p.Arg27Gln NC_000004.12:76213463:C:T p.(Arg27Gln) NC_000004.12:76213463:C:T p.(Arg27Gln) NC_000004.12:76213463:C:T Identity +NM_001165963.4:c.476del NP_001159435.1:p.Tyr159fs NC_000002.12:166054763:T: p.(Tyr159SerfsTer13) NC_000002.12:166054763:T: p.(Tyr159SerfsTer13) NC_000002.12:166054763:T: Analogous +NM_001165963.4:c.2994del NP_001159435.1:p.Asp998fs NC_000002.12:166036482:G: p.(Asp998GlufsTer12) NC_000002.12:166036482:G: p.(Asp998GlufsTer12) NC_000002.12:166036482:G: Analogous +NM_001130438.3:c.2753A>G NP_001123910.1:p.Tyr918Cys NC_000009.12:128585939:A:G p.(Tyr918Cys) NC_000009.12:128585939:A:G p.(Tyr918Cys) NC_000009.12:128585939:A:G Identity +NM_001130438.3:c.3337G>A NP_001123910.1:p.Ala1113Thr NC_000009.12:128594295:G:A p.(Ala1113Thr) NC_000009.12:128594295:G:A p.(Ala1113Thr) NC_000009.12:128594295:G:A Identity +NM_001130438.3:c.5350T>C NP_001123910.1:p.Trp1784Arg NC_000009.12:128615832:T:C p.(Trp1784Arg) NC_000009.12:128615832:T:C p.(Trp1784Arg) NC_000009.12:128615832:T:C Identity +NM_001130438.3:c.5922G>C NP_001123910.1:p.Lys1974Asn NC_000009.12:128624416:G:C p.(Lys1974Asn) NC_000009.12:128624416:G:C p.(Lys1974Asn) NC_000009.12:128624416:G:C Identity +NM_001130438.3:c.3079G>A NP_001123910.1:p.Ala1027Thr NC_000009.12:128591548:G:A p.(Ala1027Thr) NC_000009.12:128591548:G:A p.(Ala1027Thr) NC_000009.12:128591548:G:A Identity +NM_001032221.6:c.36G>C NP_001027392.1:p.Glu12Asp NC_000009.12:127612438:G:C p.(Glu12Asp) NC_000009.12:127612438:G:C p.(Glu12Asp) NC_000009.12:127612438:G:C Identity +NM_006950.3:c.1372C>G NP_008881.2:p.Gln458Glu NC_000023.11:47574708:G:C p.(Gln458Glu) NC_000023.11:47574708:G:C p.(Gln458Glu) NC_000023.11:47574708:G:C Identity +NM_001177984.3:c.4315T>C NP_001171455.1:p.Phe1439Leu NC_000012.12:51790415:T:C p.(Phe1439Leu) NC_000012.12:51790415:T:C p.(Phe1439Leu) NC_000012.12:51790415:T:C Identity +NM_001191060.2:c.284C>G NP_001177989.1:p.Ser95Cys NC_000011.10:793537:G:C p.(Ser95Cys) NC_000011.10:793537:G:C p.(Ser95Cys) NC_000011.10:793537:G:C Identity +NM_006516.4:c.805C>T NP_006507.2:p.Arg269Cys NC_000001.11:42929654:G:A p.(Arg269Cys) NC_000001.11:42929654:G:A p.(Arg269Cys) NC_000001.11:42929654:G:A Identity +NM_001040142.2:c.4394T>G NP_001035232.1:p.Leu1465Trp NC_000002.12:165380676:T:G p.(Leu1465Trp) NC_000002.12:165380676:T:G p.(Leu1465Trp) NC_000002.12:165380676:T:G Identity +NM_001191060.2:c.541C>T NP_001177989.1:p.Arg181Cys NC_000011.10:792598:G:A p.(Arg181Cys) NC_000011.10:792598:G:A p.(Arg181Cys) NC_000011.10:792598:G:A Identity +NM_001130438.3:c.2666_2668del NP_001123910.1:p.Ser889del NC_000009.12:128585852:CTC: p.(Ser889del) NC_000009.12:128585852:CTC: p.(Ser889del) NC_000009.12:128585852:CTC: Identity +NM_014467.3:c.943T>C NP_055282.1:p.Ser315Pro NC_000023.11:100666914:T:C p.(Ser315Pro) NC_000023.11:100666914:T:C p.(Ser315Pro) NC_000023.11:100666914:T:C Identity +NM_001199107.2:c.845C>G NP_001186036.1:p.Pro282Arg NC_000016.10:2496992:C:G p.(Pro282Arg) NC_000016.10:2496992:C:G p.(Pro282Arg) NC_000016.10:2496992:C:G Identity +NM_001199107.2:c.878G>A NP_001186036.1:p.Arg293His NC_000016.10:2497025:G:A p.(Arg293His) NC_000016.10:2497025:G:A p.(Arg293His) NC_000016.10:2497025:G:A Identity +NM_000391.4:c.379C>T NP_000382.3:p.Arg127Ter NC_000011.10:6617626:G:A p.(Arg127Ter) NC_000011.10:6617626:G:A p.(Arg127Ter) NC_000011.10:6617626:G:A Identity +NM_001035.3:c.13780A>C NP_001026.2:p.Lys4594Gln NC_000001.11:237792320:A:C p.(Lys4594Gln) NC_000001.11:237792320:A:C p.(Lys4594Gln) NC_000001.11:237792320:A:C Identity +NM_000218.3:c.1480dup NP_000209.2:p.Glu494fs NC_000011.10:2662043:GGGG:GGGGG p.(Glu494GlyfsTer22) NC_000011.10:2662043:GGGG:GGGGG p.(Glu494GlyfsTer22) ERR:SPDI Analogous +NM_001713.3:c.1200del NP_001704.2:p.Lys400fs NC_000005.10:79131090:AAAAA:AAAA p.(Lys400AsnfsTer15) NC_000005.10:79131090:AAAAA:AAAA p.(Lys400AsnfsTer15) NC_000005.10:79131094:A: Analogous +NM_000368.5:c.1943T>C NP_000359.1:p.Val648Ala NC_000009.12:132905634:A:G p.(Val648Ala) NC_000009.12:132905634:A:G p.(Val648Ala) NC_000009.12:132905634:A:G Identity +NM_017431.4:c.631G>C NP_059127.2:p.Glu211Gln NC_000002.12:218829979:C:G p.(Glu211Gln) NC_000002.12:218829979:C:G p.(Glu211Gln) NC_000002.12:218829979:C:G Identity +NM_033071.5:c.4520T>A NP_149062.2:p.Ile1507Asn NC_000006.12:152430671:A:T p.(Ile1507Asn) NC_000006.12:152430671:A:T p.(Ile1507Asn) NC_000006.12:152430671:A:T Identity +NM_005213.4:c.64A>T NP_005204.1:p.Lys22Ter NC_000003.12:122325355:A:T p.(Lys22Ter) NC_000003.12:122325355:A:T p.(Lys22Ter) NC_000003.12:122325355:A:T Identity +NM_001378328.1:c.3406G>A NP_001365257.1:p.Asp1136Asn NC_000022.11:46533764:C:T p.(Asp1136Asn) NC_000022.11:46533764:C:T p.(Asp1136Asn) NC_000022.11:46533764:C:T Identity +NM_001014794.3:c.211del NP_001014794.1:p.Leu71fs NC_000011.10:6608161:CCCCCC:CCCCC p.(Leu71CysfsTer26) NC_000011.10:6608161:CCCCCC:CCCCC p.(Leu71CysfsTer26) NC_000011.10:6608166:C: Analogous +NM_005932.4:c.1804G>T NP_005923.3:p.Glu602Ter NC_000013.11:23805993:C:A p.(Glu602Ter) NC_000013.11:23805993:C:A p.(Glu602Ter) NC_000013.11:23805993:C:A Identity +NM_032856.5:c.940C>T NP_116245.2:p.Gln314Ter NC_000015.10:84643666:G:A p.(Gln314Ter) NC_000015.10:84643666:G:A p.(Gln314Ter) NC_000015.10:84643666:G:A Identity +NM_032856.5:c.287G>A NP_116245.2:p.Arg96Lys NC_000015.10:84648536:C:T p.(Arg96Lys) NC_000015.10:84648536:C:T p.(Arg96Lys) NC_000015.10:84648536:C:T Identity +NM_001318012.3:c.246T>G NP_001304941.1:p.Asp82Glu NC_000005.10:83111133:T:G p.(Asp82Glu) NC_000005.10:83111133:T:G p.(Asp82Glu) NC_000005.10:83111133:T:G Identity +NM_001122670.2:c.2405G>A NP_001116142.1:p.Arg802Gln NC_000023.11:72611148:C:T p.(Arg802Gln) NC_000023.11:72611148:C:T p.(Arg802Gln) NC_000023.11:72611148:C:T Identity +NM_006516.4:c.979del NP_006507.2:p.Val327fs NC_000001.11:42929026:C: p.(Val327TrpfsTer13) NC_000001.11:42929026:C: p.(Val327TrpfsTer13) NC_000001.11:42929026:C: Analogous +NM_001130438.3:c.6608G>A NP_001123910.1:p.Arg2203Gln NC_000009.12:128627416:G:A p.(Arg2203Gln) NC_000009.12:128627416:G:A p.(Arg2203Gln) NC_000009.12:128627416:G:A Identity +NM_014467.3:c.751G>A NP_055282.1:p.Ala251Thr NC_000023.11:100665626:G:A p.(Ala251Thr) NC_000023.11:100665626:G:A p.(Ala251Thr) NC_000023.11:100665626:G:A Identity +NM_001253852.3:c.670C>T NP_001240781.1:p.Arg224Cys NC_000001.11:113900347:G:A p.(Arg224Cys) NC_000001.11:113900347:G:A p.(Arg224Cys) NC_000001.11:113900347:G:A Identity +NM_001388459.1:c.2504G>T NP_001375388.1:p.Arg835Leu NC_000023.11:107600542:G:T p.(Arg835Leu) NC_000023.11:107600542:G:T p.(Arg835Leu) NC_000023.11:107600542:G:T Identity +NM_001164144.3:c.1768C>T NP_001157616.1:p.Gln590Ter NC_000013.11:114325609:C:T p.(Gln590Ter) NC_000013.11:114325609:C:T p.(Gln590Ter) NC_000013.11:114325609:C:T Identity +NM_001165928.4:c.331G>A NP_001159400.3:p.Asp111Asn NC_000003.12:49530841:G:A p.(Asp111Asn) NC_000003.12:49530841:G:A p.(Asp111Asn) NC_000003.12:49530841:G:A Identity +NM_000368.5:c.772G>A NP_000359.1:p.Glu258Lys NC_000009.12:132912422:C:T p.(Glu258Lys) NC_000009.12:132912422:C:T p.(Glu258Lys) NC_000009.12:132912422:C:T Identity +NM_000548.5:c.2246G>A NP_000539.2:p.Arg749Gln NC_000016.10:2072873:G:A p.(Arg749Gln) NC_000016.10:2072873:G:A p.(Arg749Gln) NC_000016.10:2072873:G:A Identity +NM_001306177.2:c.223G>A NP_001293106.1:p.Val75Ile NC_000023.11:136732148:C:T p.(Val75Ile) NC_000023.11:136732148:C:T p.(Val75Ile) NC_000023.11:136732148:C:T Identity +NM_020732.3:c.736G>A NP_065783.3:p.Gly246Ser NC_000006.12:156778664:G:A ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_001206846.2:c.3960_3961insA NP_001193775.1:p.Val1321fs NC_000001.11:197117893::T p.(Val1321SerfsTer29) NC_000001.11:197117892:C:T p.(Val1321SerfsTer29) NC_000001.11:197117893:CG:T Analogous +NM_000052.7:c.3920C>G NP_000043.4:p.Pro1307Arg NC_000023.11:78042702:C:G p.(Pro1307Arg) NC_000023.11:78042702:C:G p.(Pro1307Arg) NC_000023.11:78042702:C:G Identity +NM_000489.6:c.2522T>C NP_000480.3:p.Ile841Thr NC_000023.11:77682733:A:G p.(Ile841Thr) NC_000023.11:77682733:A:G p.(Ile841Thr) NC_000023.11:77682733:A:G Identity +NM_000217.3:c.1202C>T NP_000208.2:p.Ala401Val NC_000012.12:4912579:C:T p.(Ala401Val) NC_000012.12:4912579:C:T p.(Ala401Val) NC_000012.12:4912579:C:T Identity +NM_001283106.3:c.460G>A NP_001270035.1:p.Gly154Arg NC_000022.11:20061537:G:A p.(Gly154Arg) NC_000022.11:20061537:G:A p.(Gly154Arg) NC_000022.11:20061537:G:A Identity +NM_001105.5:c.587T>C NP_001096.1:p.Leu196Pro NC_000002.12:157774143:A:G p.(Leu196Pro) NC_000002.12:157774143:A:G p.(Leu196Pro) NC_000002.12:157774143:A:G Identity +NM_001148.6:c.8123T>C NP_001139.3:p.Val2708Ala NC_000004.12:113356740:T:C p.(Val2708Ala) NC_000004.12:113356740:T:C p.(Val2708Ala) NC_000004.12:113356740:T:C Identity +NM_001079846.1:c.2696dup NP_001073315.1:p.Ser900fs NC_000016.10:3770639:GGGGG:GGGGGG p.(Ser900ValfsTer32) NC_000016.10:3770639:GGGGG:GGGGGG p.(Ser900ValfsTer32) ERR:SPDI Analogous +NM_001164232.2:c.1924A>G NP_001157704.1:p.Lys642Glu NC_000008.11:38253587:A:G p.(Lys642Glu) NC_000008.11:38253587:A:G p.(Lys642Glu) NC_000008.11:38253587:A:G Identity +NM_001145527.2:c.905A>G NP_001138999.1:p.Lys302Arg NC_000009.12:137743451:A:G p.(Lys302Arg) NC_000009.12:137743451:A:G p.(Lys302Arg) NC_000009.12:137743451:A:G Identity +NM_001173479.2:c.601G>T NP_001166950.1:p.Ala201Ser NC_000023.11:63678373:C:A p.(Ala201Ser) NC_000023.11:63678373:C:A p.(Ala201Ser) NC_000023.11:63678373:C:A Identity +NM_018136.5:c.4436A>G NP_060606.3:p.Lys1479Arg NC_000001.11:197104814:T:C p.(Lys1479Arg) NC_000001.11:197104814:T:C p.(Lys1479Arg) NC_000001.11:197104814:T:C Identity +NM_001007026.2:c.1469_1476del NP_001007027.1:p.Gln490fs NC_000012.12:6936735:AGCAGCAG: p.(Gln490ProfsTer31) NC_000012.12:6936735:AGCAGCAG: p.(Gln490ProfsTer31) NC_000012.12:6936735:AGCAGCAG: Analogous +NM_001368395.3:c.2159A>G NP_001355324.1:p.Glu720Gly NC_000023.11:12716506:A:G p.(Glu720Gly) NC_000023.11:12716506:A:G p.(Glu720Gly) NC_000023.11:12716506:A:G Identity +NM_003482.4:c.2954_2955insT NP_003473.3:p.Pro986fs NC_000012.12:49050633::A p.(Pro986ThrfsTer4) NC_000012.12:49050632:T:A p.(Pro986ThrfsTer4) NC_000012.12:49050633:TG:A Analogous +NM_000071.3:c.362G>T NP_000062.1:p.Arg121Leu NC_000021.9:43066331:C:A p.(Arg121Leu) NC_000021.9:43066331:C:A p.(Arg121Leu) NC_000021.9:43066331:C:A Identity +NM_014141.6:c.2717G>A NP_054860.1:p.Arg906His NC_000007.14:148147652:G:A p.(Arg906His) NC_000007.14:148147652:G:A p.(Arg906His) NC_000007.14:148147652:G:A Identity +NM_002470.4:c.1504T>G NP_002461.2:p.Tyr502Asp NC_000017.11:10642902:A:C p.(Tyr502Asp) NC_000017.11:10642902:A:C p.(Tyr502Asp) NC_000017.11:10642902:A:C Identity +NM_001281463.1:c.3483_3486dup NP_001268392.1:p.Ile1163fs NC_000023.11:53380685:GGCC:GGCCGGCC p.(Ile1163GlyfsTer23) NC_000023.11:53380685:GGCC:GGCCGGCC p.(Ile1163GlyfsTer23) ERR:SPDI Analogous +NM_005850.5:c.1148dup NP_005841.1:p.His383fs NC_000001.11:149923668:T:TT p.(His383GlnfsTer103) NC_000001.11:149923668:T:TT p.(His383GlnfsTer103) ERR:SPDI Analogous +NM_000457.6:c.1309C>T NP_000448.3:p.Pro437Ser NC_000020.11:44429548:C:T p.(Pro437Ser) NC_000020.11:44429548:C:T p.(Pro437Ser) NC_000020.11:44429548:C:T Identity +NM_001159296.2:c.322A>G NP_001152768.1:p.Ile108Val NC_000023.11:56265419:A:G p.(Ile108Val) NC_000023.11:56265419:A:G p.(Ile108Val) NC_000023.11:56265419:A:G Identity +NM_018323.4:c.10C>A NP_060793.2:p.Pro4Thr NC_000004.12:25234172:C:A p.(Pro4Thr) NC_000004.12:25234172:C:A p.(Pro4Thr) NC_000004.12:25234172:C:A Identity +NM_000492.4:c.2423_2424dup NP_000483.3:p.Ser809fs NC_000007.14:117592583:ATATATAT:ATATATATAT p.(Ser809IlefsTer13) NC_000007.14:117592583:ATATATAT:ATATATATAT p.(Ser809IlefsTer13) ERR:SPDI Analogous +NM_003482.4:c.4981dup NP_003473.3:p.Glu1661fs NC_000012.12:49044504:CC:CCC p.(Glu1661GlyfsTer5) NC_000012.12:49044504:CC:CCC p.(Glu1661GlyfsTer5) ERR:SPDI Analogous +NM_015384.5:c.2394_2397dup NP_056199.2:p.Ala800Ter NC_000005.10:36985573:TGAA:TGAATGAA p.(Ala800Ter) NC_000005.10:36985573:TGAA:TGAATGAA p.(Ala800Ter) ERR:SPDI Identity +NM_015384.5:c.7841_7842dup NP_056199.2:p.Val2615Ter NC_000005.10:37060996:TATA:TATATA p.(Val2615Ter) NC_000005.10:37060996:TATA:TATATA p.(Val2615Ter) ERR:SPDI Identity +NM_000052.7:c.1874T>G NP_000043.4:p.Leu625Ter NC_000023.11:78011179:T:G p.(Leu625Ter) NC_000023.11:78011179:T:G p.(Leu625Ter) NC_000023.11:78011179:T:G Identity +NM_000052.7:c.1996G>C NP_000043.4:p.Gly666Arg NC_000023.11:78011497:G:C p.(Gly666Arg) NC_000023.11:78011497:G:C p.(Gly666Arg) NC_000023.11:78011497:G:C Identity +NM_000275.3:c.1211C>T NP_000266.2:p.Thr404Met NC_000015.10:27986614:G:A p.(Thr404Met) NC_000015.10:27986614:G:A p.(Thr404Met) NC_000015.10:27986614:G:A Identity +NM_018026.4:c.83C>G NP_060496.2:p.Ser28Cys NC_000011.10:66070568:C:G p.(Ser28Cys) NC_000011.10:66070568:C:G p.(Ser28Cys) NC_000011.10:66070568:C:G Identity +NM_000430.4:c.71_72dup NP_000421.1:p.Glu25fs NC_000017.11:2665408:TAT:TATAT p.(Glu25MetfsTer14) NC_000017.11:2665408:TAT:TATAT p.(Glu25MetfsTer14) ERR:SPDI Analogous +NM_005045.4:c.7093G>A NP_005036.2:p.Val2365Met NC_000007.14:103539164:C:T p.(Val2365Met) NC_000007.14:103539164:C:T p.(Val2365Met) NC_000007.14:103539164:C:T Identity +NM_001256071.3:c.11765G>A NP_001243000.2:p.Arg3922Gln NC_000017.11:80364446:G:A p.(Arg3922Gln) NC_000017.11:80364446:G:A p.(Arg3922Gln) NC_000017.11:80364446:G:A Identity +NM_001370085.1:c.224T>C NP_001357014.1:p.Ile75Thr NC_000020.11:765550:A:G p.(Ile75Thr) NC_000020.11:765550:A:G p.(Ile75Thr) NC_000020.11:765550:A:G Identity +NM_001079846.1:c.282dup NP_001073315.1:p.Val95fs NC_000016.10:3850812:GGGG:GGGGG p.(Val95ArgfsTer17) NC_000016.10:3850812:GGGG:GGGGG p.(Val95ArgfsTer17) ERR:SPDI Analogous +NM_001258329.1:c.1643A>G NP_001245258.1:p.Lys548Arg NC_000020.11:36198015:A:G p.(Lys548Arg) NC_000020.11:36198015:A:G p.(Lys548Arg) NC_000020.11:36198015:A:G Identity +NM_001999.4:c.4461A>T NP_001990.2:p.Arg1487Ser NC_000005.10:128328705:T:A p.(Arg1487Ser) NC_000005.10:128328705:T:A p.(Arg1487Ser) NC_000005.10:128328705:T:A Identity +NM_001142805.2:c.974C>G NP_001136277.1:p.Thr325Arg NC_000023.11:153693323:C:G p.(Thr325Arg) NC_000023.11:153693323:C:G p.(Thr325Arg) NC_000023.11:153693323:C:G Identity +NM_001278055.2:c.2986C>A NP_001264984.1:p.Gln996Lys NC_000013.11:23340448:G:T p.(Gln996Lys) NC_000013.11:23340448:G:T p.(Gln996Lys) NC_000013.11:23340448:G:T Identity +NM_001128844.3:c.791G>C NP_001122316.1:p.Gly264Ala NC_000019.10:10986934:G:C p.(Gly264Ala) NC_000019.10:10986934:G:C p.(Gly264Ala) NC_000019.10:10986934:G:C Identity +NM_001206846.2:c.3100A>G NP_001193775.1:p.Lys1034Glu NC_000001.11:197124937:T:C p.(Lys1034Glu) NC_000001.11:197124937:T:C p.(Lys1034Glu) NC_000001.11:197124937:T:C Identity +NM_000052.7:c.2555C>T NP_000043.4:p.Pro852Leu NC_000023.11:78015809:C:T p.(Pro852Leu) NC_000023.11:78015809:C:T p.(Pro852Leu) NC_000023.11:78015809:C:T Identity +NM_000053.4:c.1772G>A NP_000044.2:p.Gly591Asp NC_000013.11:51964968:C:T p.(Gly591Asp) NC_000013.11:51964968:C:T p.(Gly591Asp) NC_000013.11:51964968:C:T Identity +NM_003384.3:c.1150A>G NP_003375.1:p.Ile384Val NC_000014.9:96876110:A:G p.(Ile384Val) NC_000014.9:96876110:A:G p.(Ile384Val) NC_000014.9:96876110:A:G Identity +NM_000262.3:c.606C>A NP_000253.1:p.Tyr202Ter NC_000022.11:42065890:G:T p.(Tyr202Ter) NC_000022.11:42065890:G:T p.(Tyr202Ter) NC_000022.11:42065890:G:T Identity +NM_000020.3:c.998G>T NP_000011.2:p.Ser333Ile NC_000012.12:51915449:G:T p.(Ser333Ile) NC_000012.12:51915449:G:T p.(Ser333Ile) NC_000012.12:51915449:G:T Identity +NM_001018056.3:c.746G>A NP_001018066.1:p.Gly249Asp NC_000009.12:2643456:G:A p.(Gly249Asp) NC_000009.12:2643456:G:A p.(Gly249Asp) NC_000009.12:2643456:G:A Identity +NM_001145853.1:c.873C>G NP_001139325.1:p.Tyr291Ter NC_000004.12:6300667:C:G p.(Tyr291Ter) NC_000004.12:6300667:C:G p.(Tyr291Ter) NC_000004.12:6300667:C:G Identity +NM_001146189.1:c.2903C>T NP_001139661.1:p.Ala968Val NC_000018.10:74633921:C:T p.(Ala968Val) NC_000018.10:74633921:C:T p.(Ala968Val) NC_000018.10:74633921:C:T Identity +NM_001378152.1:c.509A>G NP_001365081.1:p.Lys170Arg NC_000023.11:47915154:A:G p.(Lys170Arg) NC_000023.11:47915154:A:G p.(Lys170Arg) NC_000023.11:47915154:A:G Identity +NM_001368395.3:c.3014C>T NP_001355324.1:p.Ser1005Leu NC_000023.11:12717728:C:T p.(Ser1005Leu) NC_000023.11:12717728:C:T p.(Ser1005Leu) NC_000023.11:12717728:C:T Identity +NM_001318900.1:c.1099G>A NP_001305829.1:p.Ala367Thr NC_000010.11:87053400:C:T p.(Ala367Thr) NC_000010.11:87053400:C:T p.(Ala367Thr) NC_000010.11:87053400:C:T Identity +NM_001166247.1:c.1265C>T NP_001159719.1:p.Ala422Val NC_000006.12:101818430:C:T p.(Ala422Val) NC_000006.12:101818430:C:T p.(Ala422Val) NC_000006.12:101818430:C:T Identity +NM_000093.5:c.3299C>T NP_000084.3:p.Pro1100Leu NC_000009.12:134806228:C:T p.(Pro1100Leu) NC_000009.12:134806228:C:T p.(Pro1100Leu) NC_000009.12:134806228:C:T Identity +NM_000393.5:c.4240G>A NP_000384.2:p.Asp1414Asn NC_000002.12:189035028:C:T p.(Asp1414Asn) NC_000002.12:189035028:C:T p.(Asp1414Asn) NC_000002.12:189035028:C:T Identity +NM_000071.3:c.1223G>A NP_000062.1:p.Trp408Ter NC_000021.9:43059225:C:T p.(Trp408Ter) NC_000021.9:43059225:C:T p.(Trp408Ter) NC_000021.9:43059225:C:T Identity +NM_000093.5:c.278C>T NP_000084.3:p.Ala93Val NC_000009.12:134699908:C:T p.(Ala93Val) NC_000009.12:134699908:C:T p.(Ala93Val) NC_000009.12:134699908:C:T Identity +NM_000093.5:c.476A>G NP_000084.3:p.Asn159Ser NC_000009.12:134700106:A:G p.(Asn159Ser) NC_000009.12:134700106:A:G p.(Asn159Ser) NC_000009.12:134700106:A:G Identity +NM_000093.5:c.754C>T NP_000084.3:p.Pro252Ser NC_000009.12:134727364:C:T p.(Pro252Ser) NC_000009.12:134727364:C:T p.(Pro252Ser) NC_000009.12:134727364:C:T Identity +NM_000093.5:c.3418G>A NP_000084.3:p.Val1140Met NC_000009.12:134809233:G:A p.(Val1140Met) NC_000009.12:134809233:G:A p.(Val1140Met) NC_000009.12:134809233:G:A Identity +NM_001999.4:c.2651G>C NP_001990.2:p.Ser884Thr NC_000005.10:128357298:C:G p.(Ser884Thr) NC_000005.10:128357298:C:G p.(Ser884Thr) NC_000005.10:128357298:C:G Identity +NM_001999.4:c.3593G>A NP_001990.2:p.Cys1198Tyr NC_000005.10:128338001:C:T p.(Cys1198Tyr) NC_000005.10:128338001:C:T p.(Cys1198Tyr) NC_000005.10:128338001:C:T Identity +NM_001999.4:c.3209T>A NP_001990.2:p.Phe1070Tyr NC_000005.10:128345364:A:T p.(Phe1070Tyr) NC_000005.10:128345364:A:T p.(Phe1070Tyr) NC_000005.10:128345364:A:T Identity +NM_001999.4:c.7886A>G NP_001990.2:p.Gln2629Arg NC_000005.10:128272072:T:C p.(Gln2629Arg) NC_000005.10:128272072:T:C p.(Gln2629Arg) NC_000005.10:128272072:T:C Identity +NM_001999.4:c.7181T>C NP_001990.2:p.Ile2394Thr NC_000005.10:128278798:A:G p.(Ile2394Thr) NC_000005.10:128278798:A:G p.(Ile2394Thr) NC_000005.10:128278798:A:G Identity +NM_001110556.2:c.6719A>G NP_001104026.1:p.Lys2240Arg NC_000023.11:154352230:T:C p.(Lys2240Arg) NC_000023.11:154352230:T:C p.(Lys2240Arg) NC_000023.11:154352230:T:C Identity +NM_005257.6:c.1087C>T NP_005248.2:p.Gln363Ter NC_000018.10:22172230:C:T p.(Gln363Ter) NC_000018.10:22172230:C:T p.(Gln363Ter) NC_000018.10:22172230:C:T Identity +NM_004004.6:c.314_329del NP_003995.2:p.Lys105fs NC_000013.11:20189252:TCCCCCTTGATGAACTTCC:TCC p.(Lys105ArgfsTer2) NC_000013.11:20189252:TCCCCCTTGATGAACTTCC:TCC p.(Lys105ArgfsTer2) NC_000013.11:20189252:TCCCCCTTGATGAACT: Analogous +NM_000208.4:c.2243C>T NP_000199.2:p.Ser748Leu NC_000019.10:7150520:G:A p.(Ser748Leu) NC_000019.10:7150520:G:A p.(Ser748Leu) NC_000019.10:7150520:G:A Identity +NM_002291.3:c.4067T>C NP_002282.2:p.Val1356Ala NC_000007.14:107935535:A:G p.(Val1356Ala) NC_000007.14:107935535:A:G p.(Val1356Ala) NC_000007.14:107935535:A:G Identity +NM_001379632.1:c.4561G>A NP_001366561.1:p.Ala1521Thr NC_000002.12:240722535:C:T p.(Ala1521Thr) NC_000002.12:240722535:C:T p.(Ala1521Thr) NC_000002.12:240722535:C:T Identity +NM_001110556.2:c.500C>A NP_001104026.1:p.Thr167Asn NC_000023.11:154367963:G:T p.(Thr167Asn) NC_000023.11:154367963:G:T p.(Thr167Asn) NC_000023.11:154367963:G:T Identity +LRG_1191t1:c.1047dup LRG_1191p1:p.Ser350fs NC_000020.11:10651653:G:GG ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_030777.4:c.145T>A NP_110404.1:p.Phe49Ile NC_000020.11:46725180:T:A p.(Phe49Ile) NC_000020.11:46725180:T:A p.(Phe49Ile) NC_000020.11:46725180:T:A Identity +LRG_1191t1:c.1627C>T LRG_1191p1:p.Arg543Cys NC_000020.11:10648052:G:A ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_005120.3:c.2252A>G NP_005111.2:p.Asn751Ser NC_000023.11:71125375:A:G p.(Asn751Ser) NC_000023.11:71125375:A:G p.(Asn751Ser) NC_000023.11:71125375:A:G Identity +NM_003036.4:c.1033G>A NP_003027.1:p.Ala345Thr NC_000001.11:2303040:G:A p.(Ala345Thr) NC_000001.11:2303040:G:A p.(Ala345Thr) NC_000001.11:2303040:G:A Identity +NM_001378120.1:c.2789A>C NP_001365049.1:p.Gln930Pro NC_000002.12:148483379:A:C p.(Gln930Pro) NC_000002.12:148483379:A:C p.(Gln930Pro) NC_000002.12:148483379:A:C Identity +NM_002470.4:c.3592G>A NP_002461.2:p.Ala1198Thr NC_000017.11:10638179:C:T p.(Ala1198Thr) NC_000017.11:10638179:C:T p.(Ala1198Thr) NC_000017.11:10638179:C:T Identity +NM_000275.3:c.2012A>T NP_000266.2:p.Glu671Val NC_000015.10:27926193:T:A p.(Glu671Val) NC_000015.10:27926193:T:A p.(Glu671Val) NC_000015.10:27926193:T:A Identity +NM_001190818.2:c.703A>G NP_001177747.1:p.Lys235Glu NC_000001.11:52396063:T:C p.(Lys235Glu) NC_000001.11:52396063:T:C p.(Lys235Glu) NC_000001.11:52396063:T:C Identity +NM_001145102.2:c.72_73del NP_001138574.1:p.Arg24fs NC_000015.10:67165070:AGAGAG:AGAG p.(Arg24SerfsTer36) NC_000015.10:67165070:AGAGAG:AGAG p.(Arg24SerfsTer36) NC_000015.10:67165074:AG: Analogous +NM_000192.3:c.331G>T NP_000183.2:p.Asp111Tyr NC_000012.12:114399543:C:A p.(Asp111Tyr) NC_000012.12:114399543:C:A p.(Asp111Tyr) NC_000012.12:114399543:C:A Identity +NM_003036.4:c.2174A>C NP_003027.1:p.Glu725Ala NC_000001.11:2306751:A:C p.(Glu725Ala) NC_000001.11:2306751:A:C p.(Glu725Ala) NC_000001.11:2306751:A:C Identity +NM_001306210.2:c.421G>A NP_001293139.1:p.Val141Ile NC_000009.12:99132573:G:A p.(Val141Ile) NC_000009.12:99132573:G:A p.(Val141Ile) NC_000009.12:99132573:G:A Identity +NM_018129.4:c.119G>A NP_060599.1:p.Ser40Asn NC_000017.11:47941793:G:A p.(Ser40Asn) NC_000017.11:47941793:G:A p.(Ser40Asn) NC_000017.11:47941793:G:A Identity +NM_006796.3:c.1762G>A NP_006787.2:p.Ala588Thr NC_000018.10:12344148:C:T p.(Ala588Thr) NC_000018.10:12344148:C:T p.(Ala588Thr) NC_000018.10:12344148:C:T Identity +LRG_1163t1:c.1136T>C LRG_1163p1:p.Met379Thr NC_000023.11:55015609:A:G ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found +NM_001195248.2:c.742T>A NP_001182177.2:p.Leu248Met NC_000009.12:32984658:A:T p.(Leu248Met) NC_000009.12:32984658:A:T p.(Leu248Met) NC_000009.12:32984658:A:T Identity +NM_145691.4:c.802G>A NP_663729.1:p.Ala268Thr NC_000017.11:18018616:C:T p.(Ala268Thr) NC_000017.11:18018616:C:T p.(Ala268Thr) NC_000017.11:18018616:C:T Identity +NM_001163812.2:c.338G>C NP_001157284.1:p.Cys113Ser NC_000010.11:100988547:G:C p.(Cys113Ser) NC_000010.11:100988547:G:C p.(Cys113Ser) NC_000010.11:100988547:G:C Identity +NM_001350246.2:c.598G>C NP_001337175.1:p.Asp200His NC_000001.11:243378747:G:C p.(Asp200His) NC_000001.11:243378747:G:C p.(Asp200His) NC_000001.11:243378747:G:C Identity +NM_001353967.2:c.1172G>C NP_001340896.1:p.Arg391Pro NC_000002.12:73860104:G:C p.(Arg391Pro) NC_000002.12:73860104:G:C p.(Arg391Pro) NC_000002.12:73860104:G:C Identity +NM_015697.9:c.128C>G NP_056512.5:p.Ala43Gly NC_000004.12:83284786:G:C p.(Ala43Gly) NC_000004.12:83284786:G:C p.(Ala43Gly) NC_000004.12:83284786:G:C Identity +NM_001318860.2:c.314_315del NP_001305789.1:p.Arg105fs NC_000002.12:73957134:AGAGA:AGA p.(Arg105ThrfsTer13) NC_000002.12:73957134:AGAGA:AGA p.(Arg105ThrfsTer13) NC_000002.12:73957137:GA: Analogous +NM_021957.4:c.556A>T NP_068776.2:p.Ile186Phe NC_000012.12:21574265:T:A p.(Ile186Phe) NC_000012.12:21574265:T:A p.(Ile186Phe) NC_000012.12:21574265:T:A Identity +NM_001136193.2:c.682C>T NP_001129665.1:p.Gln228Ter NC_000002.12:206767374:C:T p.(Gln228Ter) NC_000002.12:206767374:C:T p.(Gln228Ter) NC_000002.12:206767374:C:T Identity +NM_000143.4:c.1139_1142del NP_000134.2:p.Met380fs NC_000001.11:241502536:GTCA: p.(Met380ThrfsTer25) NC_000001.11:241502536:GTCA: p.(Met380ThrfsTer25) NC_000001.11:241502536:GTCA: Analogous +NM_001278055.2:c.10465C>T NP_001264984.1:p.Arg3489Ter NC_000013.11:23332969:G:A p.(Arg3489Ter) NC_000013.11:23332969:G:A p.(Arg3489Ter) NC_000013.11:23332969:G:A Identity +NM_001142301.1:c.2563G>A NP_001135773.1:p.Glu855Lys NC_000008.11:93815345:G:A p.(Glu855Lys) NC_000008.11:93815345:G:A p.(Glu855Lys) NC_000008.11:93815345:G:A Identity +NM_001271420.2:c.157A>C NP_001258349.1:p.Lys53Gln NC_000017.11:16003845:A:C p.(Lys53Gln) NC_000017.11:16003845:A:C p.(Lys53Gln) NC_000017.11:16003845:A:C Identity +NM_001363535.2:c.190A>G NP_001350464.1:p.Lys64Glu NC_000005.10:140693653:A:G p.(Lys64Glu) NC_000005.10:140693653:A:G p.(Lys64Glu) NC_000005.10:140693653:A:G Identity +NM_001317964.2:c.109T>G NP_001304893.1:p.Leu37Val NC_000005.10:146177562:A:C p.(Leu37Val) NC_000005.10:146177562:A:C p.(Leu37Val) NC_000005.10:146177562:A:C Identity +NM_133259.4:c.814G>A NP_573566.2:p.Ala272Thr NC_000002.12:43975140:C:T p.(Ala272Thr) NC_000002.12:43975140:C:T p.(Ala272Thr) NC_000002.12:43975140:C:T Identity +NM_016013.4:c.553A>G NP_057097.2:p.Met185Val NC_000015.10:41396506:T:C p.(Met185Val) NC_000015.10:41396506:T:C p.(Met185Val) NC_000015.10:41396506:T:C Identity +NM_133259.4:c.1915A>G NP_573566.2:p.Ile639Val NC_000002.12:43948126:T:C p.(Ile639Val) NC_000002.12:43948126:T:C p.(Ile639Val) NC_000002.12:43948126:T:C Identity +NM_133259.4:c.1211C>A NP_573566.2:p.Ser404Tyr NC_000002.12:43973844:G:T p.(Ser404Tyr) NC_000002.12:43973844:G:T p.(Ser404Tyr) NC_000002.12:43973844:G:T Identity +NM_001330574.2:c.320A>G NP_001317503.1:p.Asp107Gly NC_000023.11:85255498:A:G p.(Asp107Gly) NC_000023.11:85255498:A:G p.(Asp107Gly) NC_000023.11:85255498:A:G Identity +NM_000071.3:c.5C>T NP_000062.1:p.Pro2Leu NC_000021.9:43072188:G:A p.(Pro2Leu) NC_000021.9:43072188:G:A p.(Pro2Leu) NC_000021.9:43072188:G:A Identity +NM_001256850.1:c.54021T>G NP_001243779.1:p.Cys18007Trp NC_000002.12:178593263:A:C p.(Cys18007Trp) NC_000002.12:178593263:A:C p.(Cys18007Trp) NC_000002.12:178593263:A:C Identity +NM_001083961.2:c.3348del NP_001077430.1:p.Phe1117fs NC_000019.10:36102958:CC:C p.(Phe1117SerfsTer10) NC_000019.10:36102958:CC:C p.(Phe1117SerfsTer10) NC_000019.10:36102959:C: Analogous +NM_001384475.1:c.6077A>G NP_001371404.1:p.Gln2026Arg NC_000018.10:75063797:A:G p.(Gln2026Arg) NC_000018.10:75063797:A:G p.(Gln2026Arg) NC_000018.10:75063797:A:G Identity +NM_025136.4:c.532A>G NP_079412.1:p.Lys178Glu NC_000019.10:45553521:T:C p.(Lys178Glu) NC_000019.10:45553521:T:C p.(Lys178Glu) NC_000019.10:45553521:T:C Identity +NM_001318785.2:c.391G>A NP_001305714.1:p.Asp131Asn NC_000006.12:87524614:C:T p.(Asp131Asn) NC_000006.12:87524614:C:T p.(Asp131Asn) NC_000006.12:87524614:C:T Identity +NM_001145901.2:c.544G>A NP_001139373.1:p.Val182Ile NC_000019.10:38921442:C:T p.(Val182Ile) NC_000019.10:38921442:C:T p.(Val182Ile) NC_000019.10:38921442:C:T Identity +NM_001166158.2:c.160G>A NP_001159630.1:p.Gly54Ser NC_000011.10:34916814:G:A p.(Gly54Ser) NC_000011.10:34916814:G:A p.(Gly54Ser) NC_000011.10:34916814:G:A Identity +NM_001321978.2:c.686C>G NP_001308907.1:p.Ser229Cys NC_000010.11:26723881:C:G p.(Ser229Cys) NC_000010.11:26723881:C:G p.(Ser229Cys) NC_000010.11:26723881:C:G Identity +NM_000093.5:c.4762G>A NP_000084.3:p.Asp1588Asn NC_000009.12:134824662:G:A p.(Asp1588Asn) NC_000009.12:134824662:G:A p.(Asp1588Asn) NC_000009.12:134824662:G:A Identity +NM_000118.4:c.446G>A NP_000109.1:p.Trp149Ter NC_000009.12:127826586:C:T p.(Trp149Ter) NC_000009.12:127826586:C:T p.(Trp149Ter) NC_000009.12:127826586:C:T Identity +LRG_712t1:c.797G>C LRG_712p1:p.R266T NC_000002.12:202518996:G:C ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +NM_000093.5:c.341C>A NP_000084.3:p.Ala114Asp NC_000009.12:134699971:C:A p.(Ala114Asp) NC_000009.12:134699971:C:A p.(Ala114Asp) NC_000009.12:134699971:C:A Identity +NM_000393.5:c.2156G>A NP_000384.2:p.Arg719Lys NC_000002.12:189058501:C:T p.(Arg719Lys) NC_000002.12:189058501:C:T p.(Arg719Lys) NC_000002.12:189058501:C:T Identity +NM_001363850.1:c.524T>C NP_001350779.1:p.Leu175Pro NC_000016.10:89524152:T:C p.(Leu175Pro) NC_000016.10:89524152:T:C p.(Leu175Pro) NC_000016.10:89524152:T:C Identity +LRG_727t1:c.814G>A LRG_727p1:p.Ala272Thr NC_000022.11:50526689:C:T ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_727t1 not found +NM_001145853.1:c.92C>G NP_001139325.1:p.Ala31Gly NC_000004.12:6277546:C:G p.(Ala31Gly) NC_000004.12:6277546:C:G p.(Ala31Gly) NC_000004.12:6277546:C:G Identity +NM_001040436.3:c.1396A>G NP_001035526.1:p.Lys466Glu NC_000012.12:32747241:T:C p.(Lys466Glu) NC_000012.12:32747241:T:C p.(Lys466Glu) NC_000012.12:32747241:T:C Identity +LRG_727t1:c.676G>A LRG_727p1:p.Gly226Arg NC_000022.11:50527253:C:T ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_727t1 not found +LRG_1340t1:c.6601del LRG_1340p1:p.Arg2201fs NC_000023.11:154352348:GG:G ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found +NM_000118.4:c.1312A>T NP_000109.1:p.Lys438Ter NC_000009.12:127818831:T:A p.(Lys438Ter) NC_000009.12:127818831:T:A p.(Lys438Ter) NC_000009.12:127818831:T:A Identity +NM_016156.6:c.130G>A NP_057240.3:p.Val44Ile NC_000011.10:95888211:C:T p.(Val44Ile) NC_000011.10:95888211:C:T p.(Val44Ile) NC_000011.10:95888211:C:T Identity +NM_000179.3:c.1045C>T NP_000170.1:p.Gln349Ter NC_000002.12:47799027:C:T p.(Gln349Ter) NC_000002.12:47799027:C:T p.(Gln349Ter) NC_000002.12:47799027:C:T Identity +NM_001369.3:c.9502C>T NP_001360.1:p.Arg3168Ter NC_000005.10:13770851:G:A p.(Arg3168Ter) NC_000005.10:13770851:G:A p.(Arg3168Ter) NC_000005.10:13770851:G:A Identity +NM_032043.3:c.1236del NP_114432.2:p.Val413fs NC_000017.11:61799203:TT:T p.(Val413PhefsTer10) NC_000017.11:61799203:TT:T p.(Val413PhefsTer10) NC_000017.11:61799203:T: Analogous +NM_000038.6:c.1606G>A NP_000029.2:p.Glu536Lys NC_000005.10:112827985:G:A p.(Glu536Lys) NC_000005.10:112827985:G:A p.(Glu536Lys) NC_000005.10:112827985:G:A Identity +NM_001354896.2:c.7454C>T NP_001341825.1:p.Pro2485Leu NC_000005.10:112842993:C:T p.(Pro2485Leu) NC_000005.10:112842993:C:T p.(Pro2485Leu) NC_000005.10:112842993:C:T Identity +NM_000249.4:c.940G>T NP_000240.1:p.Val314Phe NC_000003.12:37020364:G:T p.(Val314Phe) NC_000003.12:37020364:G:T p.(Val314Phe) NC_000003.12:37020364:G:T Identity +NM_001999.4:c.5447C>T NP_001990.2:p.Pro1816Leu NC_000005.10:128305923:G:A p.(Pro1816Leu) NC_000005.10:128305923:G:A p.(Pro1816Leu) NC_000005.10:128305923:G:A Identity +NM_003036.4:c.2153C>G NP_003027.1:p.Ala718Gly NC_000001.11:2306730:C:G p.(Ala718Gly) NC_000001.11:2306730:C:G p.(Ala718Gly) NC_000001.11:2306730:C:G Identity +NM_000059.4:c.4704G>T NP_000050.3:p.Lys1568Asn NC_000013.11:32339058:G:T p.(Lys1568Asn) NC_000013.11:32339058:G:T p.(Lys1568Asn) NC_000013.11:32339058:G:T Identity +NM_000135.4:c.3703C>G NP_000126.2:p.Gln1235Glu NC_000016.10:89742861:G:C p.(Gln1235Glu) NC_000016.10:89742861:G:C p.(Gln1235Glu) NC_000016.10:89742861:G:C Identity +NM_005120.3:c.3883C>T NP_005111.2:p.Arg1295Cys NC_000023.11:71130049:C:T p.(Arg1295Cys) NC_000023.11:71130049:C:T p.(Arg1295Cys) NC_000023.11:71130049:C:T Identity +NM_001145102.2:c.140del NP_001138574.1:p.Pro47fs NC_000015.10:67165301:CCCCCC:CCCCC p.(Pro47HisfsTer34) NC_000015.10:67165301:CCCCCC:CCCCC p.(Pro47HisfsTer34) NC_000015.10:67165306:C: Analogous +NM_001130916.3:c.465G>C NP_001124388.1:p.Lys155Asn NC_000009.12:99137979:G:C p.(Lys155Asn) NC_000009.12:99137979:G:C p.(Lys155Asn) NC_000009.12:99137979:G:C Identity +NM_001080522.2:c.3046G>A NP_001073991.2:p.Glu1016Lys NC_000004.12:15563385:G:A p.(Glu1016Lys) NC_000004.12:15563385:G:A p.(Glu1016Lys) NC_000004.12:15563385:G:A Identity +NM_001330209.2:c.1279C>A NP_001317138.1:p.Arg427Ser NC_000023.11:13756754:C:A p.(Arg427Ser) NC_000023.11:13756754:C:A p.(Arg427Ser) NC_000023.11:13756754:C:A Identity +NM_001363850.1:c.1996G>C NP_001350779.1:p.Gly666Arg NC_000016.10:89553852:G:C p.(Gly666Arg) NC_000016.10:89553852:G:C p.(Gly666Arg) NC_000016.10:89553852:G:C Identity +NM_032043.3:c.2800T>G NP_114432.2:p.Phe934Val NC_000017.11:61685940:A:C p.(Phe934Val) NC_000017.11:61685940:A:C p.(Phe934Val) NC_000017.11:61685940:A:C Identity +NM_002156.5:c.1607C>T NP_002147.2:p.Ala536Val NC_000002.12:197487160:G:A p.(Ala536Val) NC_000002.12:197487160:G:A p.(Ala536Val) NC_000002.12:197487160:G:A Identity +NM_001289123.2:c.916G>A NP_001276052.1:p.Val306Ile NC_000019.10:6495735:C:T p.(Val306Ile) NC_000019.10:6495735:C:T p.(Val306Ile) NC_000019.10:6495735:C:T Identity +NM_003036.4:c.1301C>T NP_003027.1:p.Pro434Leu NC_000001.11:2303928:C:T p.(Pro434Leu) NC_000001.11:2303928:C:T p.(Pro434Leu) NC_000001.11:2303928:C:T Identity +NM_030777.4:c.1415C>T NP_110404.1:p.Thr472Ile NC_000020.11:46729355:C:T p.(Thr472Ile) NC_000020.11:46729355:C:T p.(Thr472Ile) NC_000020.11:46729355:C:T Identity +NM_000192.3:c.421_443delinsCCAGGA NP_000183.2:p.Ser141fs NC_000012.12:114398639:CAATGCGCCCCGGTGGCGGGGGA:TCCTGG p.(Ser141ProfsTer36) NC_000012.12:114398639:CAATGCGCCCCGGTGGCGGGGGA:TCCTGG p.(Ser141ProfsTer36) NC_000012.12:114398639:CAATGCGCCCCGGTGGCGGGGGA:TCCTGG Analogous +LRG_779t1:c.1352C>A LRG_779p1:p.Ala451Asp NC_000003.12:30674126:C:A ERR:Data provider error: ValueError: Transcript LRG_779t1 not found ERR:Data provider error: ValueError: Transcript LRG_779t1 not found ERR:AlignmentMapper(tx_ac=LRG_779t1, alt_ac=LRG_779t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_779t1, alt_ac=LRG_779t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_779t1 not found +NM_024577.4:c.1973G>A NP_078853.2:p.Arg658His NC_000005.10:149027758:C:T p.(Arg658His) NC_000005.10:149027758:C:T p.(Arg658His) NC_000005.10:149027758:C:T Identity +NM_001193341.2:c.850C>T NP_001180270.1:p.Arg284Ter NC_000006.12:43670915:C:T p.(Arg284Ter) NC_000006.12:43670915:C:T p.(Arg284Ter) NC_000006.12:43670915:C:T Identity +NM_000516.7:c.880C>T NP_000507.1:p.Gln294Ter NC_000020.11:58909990:C:T p.(Gln294Ter) NC_000020.11:58909990:C:T p.(Gln294Ter) NC_000020.11:58909990:C:T Identity +NM_001031804.3:c.880C>T NP_001026974.1:p.Arg294Trp NC_000016.10:79599022:G:A p.(Arg294Trp) NC_000016.10:79599022:G:A p.(Arg294Trp) NC_000016.10:79599022:G:A Identity +NM_001024847.3:c.1330G>T NP_001020018.1:p.Val444Leu NC_000003.12:30674104:G:T p.(Val444Leu) NC_000003.12:30674104:G:T p.(Val444Leu) NC_000003.12:30674104:G:T Identity +NM_001271696.3:c.1486C>T NP_001258625.1:p.Pro496Ser NC_000023.11:75069333:G:A p.(Pro496Ser) NC_000023.11:75069333:G:A p.(Pro496Ser) NC_000023.11:75069333:G:A Identity +NM_001410805.1:c.1297A>G NP_001397734.1:p.Ile433Val NC_000003.12:128910122:A:G p.(Ile433Val) NC_000003.12:128910122:A:G p.(Ile433Val) NC_000003.12:128910122:A:G Identity +NM_006796.3:c.2167G>A NP_006787.2:p.Val723Met NC_000018.10:12337348:C:T p.(Val723Met) NC_000018.10:12337348:C:T p.(Val723Met) NC_000018.10:12337348:C:T Identity +NM_001306190.2:c.20C>T NP_001293119.1:p.Ala7Val NC_000009.12:91361869:G:A p.(Ala7Val) NC_000009.12:91361869:G:A p.(Ala7Val) NC_000009.12:91361869:G:A Identity +NM_000169.3:c.1124G>C NP_000160.1:p.Gly375Ala NC_000023.11:101397974:C:G p.(Gly375Ala) NC_000023.11:101397974:C:G p.(Gly375Ala) NC_000023.11:101397974:C:G Identity +NM_001384732.1:c.510del NP_001371661.1:p.Leu171fs NC_000005.10:37244434:AA:A p.(Leu171SerfsTer11) NC_000005.10:37244434:AA:A p.(Leu171SerfsTer11) NC_000005.10:37244434:A: Analogous +NM_000278.5:c.223_224dup NP_000269.3:p.Gly76fs NC_000010.11:100750703:AC:ACAC p.(Gly76ProfsTer8) NC_000010.11:100750703:AC:ACAC p.(Gly76ProfsTer8) ERR:SPDI Analogous +NM_144670.6:c.887T>C NP_653271.3:p.Val296Ala NC_000012.12:8838366:T:C p.(Val296Ala) NC_000012.12:8838366:T:C p.(Val296Ala) NC_000012.12:8838366:T:C Identity +NM_001320974.2:c.83G>C NP_001307903.1:p.Arg28Thr NC_000010.11:99731966:C:G p.(Arg28Thr) NC_000010.11:99731966:C:G p.(Arg28Thr) NC_000010.11:99731966:C:G Identity +NM_001372031.1:c.628G>A NP_001358960.1:p.Ala210Thr NC_000011.10:112028912:G:A p.(Ala210Thr) NC_000011.10:112028912:G:A p.(Ala210Thr) NC_000011.10:112028912:G:A Identity +NM_001321268.2:c.341G>A NP_001308197.1:p.Gly114Glu NC_000017.11:58210987:C:T p.(Gly114Glu) NC_000017.11:58210987:C:T p.(Gly114Glu) NC_000017.11:58210987:C:T Identity +NM_001142301.1:c.872C>A NP_001135773.1:p.Thr291Lys NC_000008.11:93782443:C:A p.(Thr291Lys) NC_000008.11:93782443:C:A p.(Thr291Lys) NC_000008.11:93782443:C:A Identity +NM_001080522.2:c.4491A>C NP_001073991.2:p.Gln1497His NC_000004.12:15597459:A:C p.(Gln1497His) NC_000004.12:15597459:A:C p.(Gln1497His) NC_000004.12:15597459:A:C Identity +LRG_504t1:c.736C>T LRG_504p1:p.Gln246Ter NC_000001.11:241508604:G:A ERR:Data provider error: ValueError: Transcript LRG_504t1 not found ERR:Data provider error: ValueError: Transcript LRG_504t1 not found ERR:AlignmentMapper(tx_ac=LRG_504t1, alt_ac=LRG_504t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_504t1, alt_ac=LRG_504t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_504t1 not found +NM_001281302.2:c.1136T>C NP_001268231.1:p.Met379Thr NC_000005.10:74740027:A:G p.(Met379Thr) NC_000005.10:74740027:A:G p.(Met379Thr) NC_000005.10:74740027:A:G Identity +NM_133259.4:c.109G>A NP_573566.2:p.Ala37Thr NC_000002.12:43995838:C:T p.(Ala37Thr) NC_000002.12:43995838:C:T p.(Ala37Thr) NC_000002.12:43995838:C:T Identity +NM_001127660.2:c.1904C>A NP_001121132.1:p.Ala635Asp NC_000001.11:12007083:C:A p.(Ala635Asp) NC_000001.11:12007083:C:A p.(Ala635Asp) NC_000001.11:12007083:C:A Identity +NM_015114.3:c.1717C>G NP_055929.1:p.Leu573Val NC_000012.12:132734558:G:C p.(Leu573Val) NC_000012.12:132734558:G:C p.(Leu573Val) NC_000012.12:132734558:G:C Identity +NM_001311168.2:c.23C>T NP_001298097.1:p.Pro8Leu NC_000008.11:124539208:C:T p.(Pro8Leu) NC_000008.11:124539208:C:T p.(Pro8Leu) NC_000008.11:124539208:C:T Identity +LRG_337t1:c.1208T>C LRG_337p1:p.Ile403Thr NC_000003.12:193643439:T:C ERR:Data provider error: ValueError: Transcript LRG_337t1 not found ERR:Data provider error: ValueError: Transcript LRG_337t1 not found ERR:AlignmentMapper(tx_ac=LRG_337t1, alt_ac=LRG_337t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_337t1, alt_ac=LRG_337t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_337t1 not found +NM_020381.4:c.536A>C NP_065114.3:p.Lys179Thr NC_000006.12:107274122:T:G p.(Lys179Thr) NC_000006.12:107274122:T:G p.(Lys179Thr) NC_000006.12:107274122:T:G Identity +NM_001002019.3:c.373G>A NP_001002019.1:p.Gly125Ser NC_000012.12:131939187:G:A p.(Gly125Ser) NC_000012.12:131939187:G:A p.(Gly125Ser) NC_000012.12:131939187:G:A Identity +NM_001349655.2:c.1214G>A NP_001336584.1:p.Arg405Gln NC_000013.11:72835358:G:A p.(Arg405Gln) NC_000013.11:72835358:G:A p.(Arg405Gln) NC_000013.11:72835358:G:A Identity +NM_001164144.3:c.542_543del NP_001157616.1:p.Ser181fs NC_000013.11:114324381:CTCT:CT p.(Ser181CysfsTer5) NC_000013.11:114324381:CTCT:CT p.(Ser181CysfsTer5) NC_000013.11:114324383:CT: Analogous +NM_000038.6:c.1609del NP_000029.2:p.Ser537fs NC_000005.10:112827986:AAA:AA p.(Ser537ValfsTer12) NC_000005.10:112827986:AAA:AA p.(Ser537ValfsTer12) NC_000005.10:112827988:A: Analogous +NM_002437.5:c.135del NP_002428.1:p.Glu45fs NC_000002.12:27313044:TT:T p.(Glu45AspfsTer8) NC_000002.12:27313044:TT:T p.(Glu45AspfsTer8) NC_000002.12:27313044:T: Analogous +NM_001166159.2:c.875T>C NP_001159631.1:p.Met292Thr NC_000001.11:161210598:T:C p.(Met292Thr) NC_000001.11:161210598:T:C p.(Met292Thr) NC_000001.11:161210598:T:C Identity +NM_001166102.2:c.590G>A NP_001159574.1:p.Cys197Tyr NC_000011.10:67610486:G:A p.(Cys197Tyr) NC_000011.10:67610486:G:A p.(Cys197Tyr) NC_000011.10:67610486:G:A Identity +NM_001354663.2:c.1972C>T NP_001341592.1:p.Arg658Trp NC_000003.12:193659546:C:T p.(Arg658Trp) NC_000003.12:193659546:C:T p.(Arg658Trp) NC_000003.12:193659546:C:T Identity +NM_000038.6:c.450_453del NP_000029.2:p.Glu151fs NC_000005.10:112775653:AAAGAA:AA p.(Glu151LysfsTer18) NC_000005.10:112775653:AAAGAA:AA p.(Glu151LysfsTer18) NC_000005.10:112775655:AGAA: Analogous +NM_001160227.2:c.592C>T NP_001153699.1:p.Gln198Ter NC_000015.10:44659153:G:A p.(Gln198Ter) NC_000015.10:44659153:G:A p.(Gln198Ter) NC_000015.10:44659153:G:A Identity +NM_001345921.3:c.1058A>G NP_001332850.1:p.Glu353Gly NC_000005.10:75587054:A:G p.(Glu353Gly) NC_000005.10:75587054:A:G p.(Glu353Gly) NC_000005.10:75587054:A:G Identity +NM_001321119.2:c.31G>T NP_001308048.2:p.Asp11Tyr NC_000002.12:130342094:C:A p.(Asp11Tyr) NC_000002.12:130342094:C:A p.(Asp11Tyr) NC_000002.12:130342094:C:A Identity +NM_001271427.2:c.2616_2619del NP_001258356.1:p.Pro873fs NC_000001.11:19220813:AGGAAGG:AGG p.(Pro873ArgfsTer21) NC_000001.11:19220813:AGGAAGG:AGG p.(Pro873ArgfsTer21) NC_000001.11:19220813:AGGA: Analogous +NM_004230.4:c.419A>G NP_004221.3:p.Tyr140Cys NC_000019.10:10224486:T:C p.(Tyr140Cys) NC_000019.10:10224486:T:C p.(Tyr140Cys) NC_000019.10:10224486:T:C Identity +NM_001135024.2:c.872A>G NP_001128496.2:p.Asp291Gly NC_000011.10:34984597:A:G p.(Asp291Gly) NC_000011.10:34984597:A:G p.(Asp291Gly) NC_000011.10:34984597:A:G Identity +NM_017617.5:c.4739dup NP_060087.3:p.Met1580fs NC_000009.12:136504951:A:AA p.(Met1580IlefsTer30) NC_000009.12:136504951:A:AA p.(Met1580IlefsTer30) ERR:SPDI Analogous +NM_024675.4:c.3271C>T NP_078951.2:p.Gln1091Ter NC_000016.10:23607942:G:A p.(Gln1091Ter) NC_000016.10:23607942:G:A p.(Gln1091Ter) NC_000016.10:23607942:G:A Identity +NM_001267039.4:c.320C>T NP_001253968.2:p.Thr107Ile NC_000004.12:112646603:C:T p.(Thr107Ile) NC_000004.12:112646603:C:T p.(Thr107Ile) NC_000004.12:112646603:C:T Identity +NM_001172477.1:c.736C>T NP_001165948.1:p.Arg246Ter NC_000008.11:102224075:G:A p.(Arg246Ter) NC_000008.11:102224075:G:A p.(Arg246Ter) NC_000008.11:102224075:G:A Identity +NM_001164277.2:c.1012T>C NP_001157749.1:p.Phe338Leu NC_000011.10:119025301:A:G p.(Phe338Leu) NC_000011.10:119025301:A:G p.(Phe338Leu) NC_000011.10:119025301:A:G Identity +NM_001277115.2:c.12644T>C NP_001264044.1:p.Ile4215Thr NC_000007.14:21892560:T:C p.(Ile4215Thr) NC_000007.14:21892560:T:C p.(Ile4215Thr) NC_000007.14:21892560:T:C Identity +NM_000264.5:c.3100G>A NP_000255.2:p.Val1034Met NC_000009.12:95458080:C:T p.(Val1034Met) NC_000009.12:95458080:C:T p.(Val1034Met) NC_000009.12:95458080:C:T Identity +NM_001293213.2:c.43C>A NP_001280142.1:p.Gln15Lys NC_000006.12:30720548:C:A p.(Gln15Lys) NC_000006.12:30720548:C:A p.(Gln15Lys) NC_000006.12:30720548:C:A Identity +NM_001145853.1:c.1192G>C NP_001139325.1:p.Gly398Arg NC_000004.12:6300986:G:C p.(Gly398Arg) NC_000004.12:6300986:G:C p.(Gly398Arg) NC_000004.12:6300986:G:C Identity +NM_001363823.2:c.922del NP_001350752.1:p.Arg308fs NC_000002.12:32115755:C: p.(Arg308ValfsTer6) NC_000002.12:32115755:C: p.(Arg308ValfsTer6) NC_000002.12:32115755:C: Analogous +NM_153240.5:c.1817G>A NP_694972.3:p.Trp606Ter NC_000003.12:132699987:C:T p.(Trp606Ter) NC_000003.12:132699987:C:T p.(Trp606Ter) NC_000003.12:132699987:C:T Identity +NM_018190.4:c.389_390del NP_060660.2:p.Asn130fs NC_000004.12:121859129:GT: p.(Asn130ThrfsTer4) NC_000004.12:121859129:GT: p.(Asn130ThrfsTer4) NC_000004.12:121859129:GT: Analogous +NM_001369.3:c.12251G>A NP_001360.1:p.Arg4084Gln NC_000005.10:13721027:C:T p.(Arg4084Gln) NC_000005.10:13721027:C:T p.(Arg4084Gln) NC_000005.10:13721027:C:T Identity +NM_000059.4:c.8143A>T NP_000050.3:p.Lys2715Ter NC_000013.11:32363344:A:T p.(Lys2715Ter) NC_000013.11:32363344:A:T p.(Lys2715Ter) NC_000013.11:32363344:A:T Identity +NM_000038.6:c.7979G>A NP_000029.2:p.Arg2660Lys NC_000005.10:112843572:G:A p.(Arg2660Lys) NC_000005.10:112843572:G:A p.(Arg2660Lys) NC_000005.10:112843572:G:A Identity +NM_000051.4:c.3055C>G NP_000042.3:p.Leu1019Val NC_000011.10:108271383:C:G p.(Leu1019Val) NC_000011.10:108271383:C:G p.(Leu1019Val) NC_000011.10:108271383:C:G Identity +NM_000551.4:c.509T>C NP_000542.1:p.Val170Ala NC_000003.12:10149831:T:C p.(Val170Ala) NC_000003.12:10149831:T:C p.(Val170Ala) NC_000003.12:10149831:T:C Identity +NM_000264.5:c.1128C>G NP_000255.2:p.Phe376Leu NC_000009.12:95479086:G:C p.(Phe376Leu) NC_000009.12:95479086:G:C p.(Phe376Leu) NC_000009.12:95479086:G:C Identity +NM_000264.5:c.3629C>T NP_000255.2:p.Pro1210Leu NC_000009.12:95449243:G:A p.(Pro1210Leu) NC_000009.12:95449243:G:A p.(Pro1210Leu) NC_000009.12:95449243:G:A Identity +NM_000546.6:c.374C>A NP_000537.3:p.Thr125Lys NC_000017.11:7675994:G:T p.(Thr125Lys) NC_000017.11:7675994:G:T p.(Thr125Lys) NC_000017.11:7675994:G:T Identity +NM_000546.6:c.388C>T NP_000537.3:p.Leu130Phe NC_000017.11:7675223:G:A p.(Leu130Phe) NC_000017.11:7675223:G:A p.(Leu130Phe) NC_000017.11:7675223:G:A Identity +NM_001407695.1:c.4411C>G NP_001394624.1:p.Gln1471Glu NC_000017.11:43074453:G:C p.(Gln1471Glu) NC_000017.11:43074453:G:C p.(Gln1471Glu) NC_000017.11:43074453:G:C Identity +NM_014846.4:c.161T>C NP_055661.3:p.Ile54Thr NC_000008.11:125083737:A:G p.(Ile54Thr) NC_000008.11:125083737:A:G p.(Ile54Thr) NC_000008.11:125083737:A:G Identity +NM_000244.4:c.655G>A NP_000235.3:p.Gly219Ser NC_000011.10:64807904:C:T p.(Gly219Ser) NC_000011.10:64807904:C:T p.(Gly219Ser) NC_000011.10:64807904:C:T Identity +NM_024675.4:c.1178A>G NP_078951.2:p.Lys393Arg NC_000016.10:23635367:T:C p.(Lys393Arg) NC_000016.10:23635367:T:C p.(Lys393Arg) NC_000016.10:23635367:T:C Identity +NM_018706.7:c.2500C>T NP_061176.4:p.Arg834Ter NC_000010.11:12118845:C:T p.(Arg834Ter) NC_000010.11:12118845:C:T p.(Arg834Ter) NC_000010.11:12118845:C:T Identity +NM_000166.6:c.163A>G NP_000157.1:p.Thr55Ala NC_000023.11:71223869:A:G p.(Thr55Ala) NC_000023.11:71223869:A:G p.(Thr55Ala) NC_000023.11:71223869:A:G Identity +NM_000251.3:c.1547G>A NP_000242.1:p.Ser516Asn NC_000002.12:47466693:G:A p.(Ser516Asn) NC_000002.12:47466693:G:A p.(Ser516Asn) NC_000002.12:47466693:G:A Identity +NM_001017423.2:c.359T>C NP_001017423.1:p.Val120Ala NC_000010.11:95637380:A:G p.(Val120Ala) NC_000010.11:95637380:A:G p.(Val120Ala) NC_000010.11:95637380:A:G Identity +NM_000465.4:c.71C>G NP_000456.2:p.Pro24Arg NC_000002.12:214809498:G:C p.(Pro24Arg) NC_000002.12:214809498:G:C p.(Pro24Arg) NC_000002.12:214809498:G:C Identity +NM_000535.7:c.58C>T NP_000526.2:p.Arg20Trp NC_000007.14:6005996:G:A p.(Arg20Trp) NC_000007.14:6005996:G:A p.(Arg20Trp) NC_000007.14:6005996:G:A Identity +NM_001166108.2:c.2513G>A NP_001159580.1:p.Ser838Asn NC_000004.12:168903796:G:A p.(Ser838Asn) NC_000004.12:168903796:G:A p.(Ser838Asn) NC_000004.12:168903796:G:A Identity +NM_004329.3:c.1306A>G NP_004320.2:p.Ile436Val NC_000010.11:86921658:A:G p.(Ile436Val) NC_000010.11:86921658:A:G p.(Ile436Val) NC_000010.11:86921658:A:G Identity +NM_004360.5:c.1240A>G NP_004351.1:p.Thr414Ala NC_000016.10:68813414:A:G p.(Thr414Ala) NC_000016.10:68813414:A:G p.(Thr414Ala) NC_000016.10:68813414:A:G Identity +LRG_292t1:c.3496G>C LRG_292p1:p.Ala1166Pro NC_000017.11:43092034:C:G ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_014845.6:c.2567C>T NP_055660.1:p.Ser856Leu NC_000006.12:109825107:C:T p.(Ser856Leu) NC_000006.12:109825107:C:T p.(Ser856Leu) NC_000006.12:109825107:C:T Identity +LRG_386t1:c.3414dup LRG_386p1:p.Val1139fs NC_000011.10:47332889:G:GG ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001321214.2:c.466C>T NP_001308143.1:p.Arg156Trp NC_000017.11:19343795:G:A p.(Arg156Trp) NC_000017.11:19343795:G:A p.(Arg156Trp) NC_000017.11:19343795:G:A Identity +NM_001384732.1:c.2923C>T NP_001371661.1:p.Gln975Ter NC_000005.10:37206422:G:A p.(Gln975Ter) NC_000005.10:37206422:G:A p.(Gln975Ter) NC_000005.10:37206422:G:A Identity +NM_025114.4:c.3185del NP_079390.3:p.Leu1062fs NC_000012.12:88093893:A: p.(Leu1062ArgfsTer3) NC_000012.12:88093893:A: p.(Leu1062ArgfsTer3) NC_000012.12:88093893:A: Analogous +NM_000335.5:c.4769G>A NP_000326.2:p.Trp1590Ter NC_000003.12:38554319:C:T p.(Trp1590Ter) NC_000003.12:38554319:C:T p.(Trp1590Ter) NC_000003.12:38554319:C:T Identity +NM_153487.4:c.2674T>G NP_705691.1:p.Phe892Val NC_000006.12:37638306:A:C p.(Phe892Val) NC_000006.12:37638306:A:C p.(Phe892Val) NC_000006.12:37638306:A:C Identity +NM_006265.3:c.1808T>C NP_006256.1:p.Leu603Pro NC_000008.11:116847587:A:G p.(Leu603Pro) NC_000008.11:116847587:A:G p.(Leu603Pro) NC_000008.11:116847587:A:G Identity +NM_001297713.2:c.2024G>A NP_001284642.1:p.Gly675Asp NC_000001.11:161983906:C:T p.(Gly675Asp) NC_000001.11:161983906:C:T p.(Gly675Asp) NC_000001.11:161983906:C:T Identity +NM_001244808.3:c.1537C>T NP_001231737.1:p.Arg513Cys NC_000003.12:70972666:G:A p.(Arg513Cys) NC_000003.12:70972666:G:A p.(Arg513Cys) NC_000003.12:70972666:G:A Identity +NM_001378183.1:c.6487G>A NP_001365112.1:p.Ala2163Thr NC_000018.10:10699131:C:T p.(Ala2163Thr) NC_000018.10:10699131:C:T p.(Ala2163Thr) NC_000018.10:10699131:C:T Identity +NM_001080.3:c.709G>T NP_001071.1:p.Ala237Ser NC_000006.12:24504967:G:T p.(Ala237Ser) NC_000006.12:24504967:G:T p.(Ala237Ser) NC_000006.12:24504967:G:T Identity +NM_001134830.2:c.736A>T NP_001128302.1:p.Lys246Ter NC_000006.12:135465826:T:A p.(Lys246Ter) NC_000006.12:135465826:T:A p.(Lys246Ter) NC_000006.12:135465826:T:A Identity +NM_001384732.1:c.3007G>T NP_001371661.1:p.Glu1003Ter NC_000005.10:37206338:C:A p.(Glu1003Ter) NC_000005.10:37206338:C:A p.(Glu1003Ter) NC_000005.10:37206338:C:A Identity +NM_000255.4:c.1105C>T NP_000246.2:p.Arg369Cys NC_000006.12:49451692:G:A p.(Arg369Cys) NC_000006.12:49451692:G:A p.(Arg369Cys) NC_000006.12:49451692:G:A Identity +NM_001142301.1:c.1108C>T NP_001135773.1:p.Arg370Ter NC_000008.11:93786284:C:T p.(Arg370Ter) NC_000008.11:93786284:C:T p.(Arg370Ter) NC_000008.11:93786284:C:T Identity +NM_000251.3:c.1862G>T NP_000242.1:p.Arg621Leu NC_000002.12:47475126:G:T p.(Arg621Leu) NC_000002.12:47475126:G:T p.(Arg621Leu) NC_000002.12:47475126:G:T Identity +NM_001282625.2:c.91_93del NP_001269554.1:p.Glu31del NC_000001.11:156115006:AGGAG:AG p.(Glu31del) NC_000001.11:156115006:AGGAG:AG p.(Glu31del) NC_000001.11:156115008:GAG: Identity +NM_001145079.2:c.668A>G NP_001138551.1:p.Tyr223Cys NC_000013.11:39680018:A:G p.(Tyr223Cys) NC_000013.11:39680018:A:G p.(Tyr223Cys) NC_000013.11:39680018:A:G Identity +NM_001164342.2:c.1164C>G NP_001157814.1:p.Asp388Glu NC_000003.12:114350913:G:C p.(Asp388Glu) NC_000003.12:114350913:G:C p.(Asp388Glu) NC_000003.12:114350913:G:C Identity +NM_004260.4:c.2206G>A NP_004251.4:p.Ala736Thr NC_000008.11:144513474:C:T p.(Ala736Thr) NC_000008.11:144513474:C:T p.(Ala736Thr) NC_000008.11:144513474:C:T Identity +NM_004747.4:c.3200G>A NP_004738.3:p.Arg1067His NC_000010.11:77821283:C:T p.(Arg1067His) NC_000010.11:77821283:C:T p.(Arg1067His) NC_000010.11:77821283:C:T Identity +NM_000295.5:c.1094A>T NP_000286.3:p.Asp365Val NC_000014.9:94378611:T:A p.(Asp365Val) NC_000014.9:94378611:T:A p.(Asp365Val) NC_000014.9:94378611:T:A Identity +NM_000249.4:c.2012A>G NP_000240.1:p.Glu671Gly NC_000003.12:37048925:A:G p.(Glu671Gly) NC_000003.12:37048925:A:G p.(Glu671Gly) NC_000003.12:37048925:A:G Identity +NM_000245.4:c.4042C>A NP_000236.2:p.His1348Asn NC_000007.14:116795992:C:A p.(His1348Asn) NC_000007.14:116795992:C:A p.(His1348Asn) NC_000007.14:116795992:C:A Identity +NM_001304482.2:c.3010G>A NP_001291411.1:p.Gly1004Ser NC_000003.12:47411185:G:A p.(Gly1004Ser) NC_000003.12:47411185:G:A p.(Gly1004Ser) NC_000003.12:47411185:G:A Identity +NM_020987.5:c.5933A>G NP_066267.2:p.Lys1978Arg NC_000010.11:60074947:T:C p.(Lys1978Arg) NC_000010.11:60074947:T:C p.(Lys1978Arg) NC_000010.11:60074947:T:C Identity +NM_001029896.2:c.158TGG[1] NP_001025067.1:p.Val54del NC_000023.11:49077714:CCACCA:CCA p.(Val54del) NC_000023.11:49077719:A:CCA ERR:Parse ERR:Parse Identity +NM_001318918.2:c.1259C>T NP_001305847.1:p.Pro420Leu NC_000016.10:4337207:C:T p.(Pro420Leu) NC_000016.10:4337207:C:T p.(Pro420Leu) NC_000016.10:4337207:C:T Identity +NM_000179.3:c.647C>T NP_000170.1:p.Thr216Ile NC_000002.12:47798629:C:T p.(Thr216Ile) NC_000002.12:47798629:C:T p.(Thr216Ile) NC_000002.12:47798629:C:T Identity +NM_004423.4:c.1716del NP_004414.3:p.Ser573fs NC_000003.12:184170319:C: p.(Ser573ValfsTer95) NC_000003.12:184170319:C: p.(Ser573ValfsTer95) NC_000003.12:184170319:C: Analogous +NM_001145513.1:c.178G>A NP_001138985.1:p.Asp60Asn NC_000007.14:29955341:C:T p.(Asp60Asn) NC_000007.14:29955341:C:T p.(Asp60Asn) NC_000007.14:29955341:C:T Identity +NM_017551.3:c.884C>T NP_060021.1:p.Thr295Met NC_000010.11:85869076:G:A p.(Thr295Met) NC_000010.11:85869076:G:A p.(Thr295Met) NC_000010.11:85869076:G:A Identity +NM_000264.5:c.4258T>C NP_000255.2:p.Cys1420Arg NC_000009.12:95446997:A:G p.(Cys1420Arg) NC_000009.12:95446997:A:G p.(Cys1420Arg) NC_000009.12:95446997:A:G Identity +NM_001317184.2:c.251C>T NP_001304113.1:p.Thr84Ile NC_000016.10:68801756:C:T p.(Thr84Ile) NC_000016.10:68801756:C:T p.(Thr84Ile) NC_000016.10:68801756:C:T Identity +NM_000059.4:c.4114T>A NP_000050.3:p.Phe1372Ile NC_000013.11:32338468:T:A p.(Phe1372Ile) NC_000013.11:32338468:T:A p.(Phe1372Ile) NC_000013.11:32338468:T:A Identity +NM_000245.4:c.1063G>A NP_000236.2:p.Glu355Lys NC_000007.14:116700146:G:A p.(Glu355Lys) NC_000007.14:116700146:G:A p.(Glu355Lys) NC_000007.14:116700146:G:A Identity +NM_000313.4:c.1681C>T NP_000304.2:p.Arg561Trp NC_000003.12:93877154:G:A p.(Arg561Trp) NC_000003.12:93877154:G:A p.(Arg561Trp) NC_000003.12:93877154:G:A Identity +NM_001243571.2:c.1307T>C NP_001230500.1:p.Ile436Thr NC_000011.10:95838163:A:G p.(Ile436Thr) NC_000011.10:95838163:A:G p.(Ile436Thr) NC_000011.10:95838163:A:G Identity +NM_001048173.2:c.1393G>T NP_001041638.1:p.Val465Phe NC_000001.11:45330556:C:A p.(Val465Phe) NC_000001.11:45330556:C:A p.(Val465Phe) NC_000001.11:45330556:C:A Identity +NM_001243342.2:c.1726C>G NP_001230271.1:p.Gln576Glu NC_000017.11:80081708:C:G p.(Gln576Glu) NC_000017.11:80081708:C:G p.(Gln576Glu) NC_000017.11:80081708:C:G Identity +NM_000179.3:c.1034A>G NP_000170.1:p.Asn345Ser NC_000002.12:47799016:A:G p.(Asn345Ser) NC_000002.12:47799016:A:G p.(Asn345Ser) NC_000002.12:47799016:A:G Identity +NM_000179.3:c.233G>A NP_000170.1:p.Arg78Lys NC_000002.12:47783465:G:A p.(Arg78Lys) NC_000002.12:47783465:G:A p.(Arg78Lys) NC_000002.12:47783465:G:A Identity +NM_138694.4:c.5642C>A NP_619639.3:p.Ser1881Tyr NC_000006.12:52010417:G:T p.(Ser1881Tyr) NC_000006.12:52010417:G:T p.(Ser1881Tyr) NC_000006.12:52010417:G:T Identity +NM_001317184.2:c.2407G>C NP_001304113.1:p.Glu803Gln NC_000016.10:68833439:G:C p.(Glu803Gln) NC_000016.10:68833439:G:C p.(Glu803Gln) NC_000016.10:68833439:G:C Identity +NM_001379352.1:c.9G>C NP_001366281.1:p.Glu3Asp NC_000001.11:146020222:C:G p.(Glu3Asp) NC_000001.11:146020222:C:G p.(Glu3Asp) NC_000001.11:146020222:C:G Identity +NM_000051.4:c.2848C>T NP_000042.3:p.Leu950Phe NC_000011.10:108271072:C:T p.(Leu950Phe) NC_000011.10:108271072:C:T p.(Leu950Phe) NC_000011.10:108271072:C:T Identity +NM_024675.4:c.761C>A NP_078951.2:p.Ser254Ter NC_000016.10:23635784:G:T p.(Ser254Ter) NC_000016.10:23635784:G:T p.(Ser254Ter) NC_000016.10:23635784:G:T Identity +NM_000251.3:c.1013G>C NP_000242.1:p.Gly338Ala NC_000002.12:47416365:G:C p.(Gly338Ala) NC_000002.12:47416365:G:C p.(Gly338Ala) NC_000002.12:47416365:G:C Identity +NM_001386339.1:c.3127A>G NP_001373268.1:p.Ile1043Val NC_000011.10:9842753:T:C p.(Ile1043Val) NC_000011.10:9842753:T:C p.(Ile1043Val) NC_000011.10:9842753:T:C Identity +NM_000059.4:c.7540A>G NP_000050.3:p.Lys2514Glu NC_000013.11:32356531:A:G p.(Lys2514Glu) NC_000013.11:32356531:A:G p.(Lys2514Glu) NC_000013.11:32356531:A:G Identity +NM_000038.6:c.3323A>G NP_000029.2:p.Asn1108Ser NC_000005.10:112838916:A:G p.(Asn1108Ser) NC_000005.10:112838916:A:G p.(Asn1108Ser) NC_000005.10:112838916:A:G Identity +NM_000059.4:c.8569G>C NP_000050.3:p.Ala2857Pro NC_000013.11:32371036:G:C p.(Ala2857Pro) NC_000013.11:32371036:G:C p.(Ala2857Pro) NC_000013.11:32371036:G:C Identity +NM_000251.3:c.2150G>A NP_000242.1:p.Ser717Asn NC_000002.12:47476510:G:A p.(Ser717Asn) NC_000002.12:47476510:G:A p.(Ser717Asn) NC_000002.12:47476510:G:A Identity +NM_001256849.1:c.433G>A NP_001243778.1:p.Ala145Thr NC_000019.10:50401893:G:A p.(Ala145Thr) NC_000019.10:50401893:G:A p.(Ala145Thr) NC_000019.10:50401893:G:A Identity +NM_024675.4:c.1805A>T NP_078951.2:p.Gln602Leu NC_000016.10:23630348:T:A p.(Gln602Leu) NC_000016.10:23630348:T:A p.(Gln602Leu) NC_000016.10:23630348:T:A Identity +NM_001389618.1:c.1033G>A NP_001376547.1:p.Asp345Asn NC_000010.11:47142:C:T p.(Asp345Asn) NC_000010.11:47142:C:T p.(Asp345Asn) NC_000010.11:47142:C:T Identity +NM_001354044.2:c.104T>A NP_001340973.1:p.Ile35Asn NC_000002.12:63487478:A:T p.(Ile35Asn) NC_000002.12:63487478:A:T p.(Ile35Asn) NC_000002.12:63487478:A:T Identity +NM_001256849.1:c.88C>T NP_001243778.1:p.Arg30Trp NC_000019.10:50398938:C:T p.(Arg30Trp) NC_000019.10:50398938:C:T p.(Arg30Trp) NC_000019.10:50398938:C:T Identity +NM_001277115.2:c.12561T>G NP_001264044.1:p.Asp4187Glu NC_000007.14:21892477:T:G p.(Asp4187Glu) NC_000007.14:21892477:T:G p.(Asp4187Glu) NC_000007.14:21892477:T:G Identity +NM_000148.4:c.349C>T NP_000139.1:p.His117Tyr NC_000019.10:48750932:G:A p.(His117Tyr) NC_000019.10:48750932:G:A p.(His117Tyr) NC_000019.10:48750932:G:A Identity +NM_000323.2:c.682G>C NP_000314.1:p.Ala228Pro NC_000010.11:43105007:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000465.4:c.907G>C NP_000456.2:p.Val303Leu NC_000002.12:214780966:C:G p.(Val303Leu) NC_000002.12:214780966:C:G p.(Val303Leu) NC_000002.12:214780966:C:G Identity +NM_000169.3:c.511G>A NP_000160.1:p.Gly171Ser NC_000023.11:101401667:C:T p.(Gly171Ser) NC_000023.11:101401667:C:T p.(Gly171Ser) NC_000023.11:101401667:C:T Identity +NM_001257374.3:c.325C>T NP_001244303.1:p.Arg109Cys NC_000001.11:156134825:C:T p.(Arg109Cys) NC_000001.11:156134825:C:T p.(Arg109Cys) NC_000001.11:156134825:C:T Identity +LRG_402t1:c.6203G>T LRG_402p1:p.Arg2068Leu NC_000001.11:237627842:G:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_015180.6:c.14407del NP_055995.4:p.Ser4803fs NC_000014.9:64132329:TT:T p.(Ser4803LeufsTer14) NC_000014.9:64132329:TT:T p.(Ser4803LeufsTer14) NC_000014.9:64132330:T: Analogous +NM_001256850.1:c.11919dup NP_001243779.1:p.Val3974fs NC_000002.12:178740362:T:TT p.(Val3974SerfsTer12) NC_000002.12:178740362:T:TT p.(Val3974SerfsTer12) ERR:SPDI Analogous +NM_005159.5:c.854T>C NP_005150.1:p.Met285Thr NC_000015.10:34791249:A:G p.(Met285Thr) NC_000015.10:34791249:A:G p.(Met285Thr) NC_000015.10:34791249:A:G Identity +NM_001148.6:c.7247G>A NP_001139.3:p.Arg2416Gln NC_000004.12:113355864:G:A p.(Arg2416Gln) NC_000004.12:113355864:G:A p.(Arg2416Gln) NC_000004.12:113355864:G:A Identity +NM_000722.4:c.439C>T NP_000713.2:p.Pro147Ser NC_000007.14:82117130:G:A p.(Pro147Ser) NC_000007.14:82117130:G:A p.(Pro147Ser) NC_000007.14:82117130:G:A Identity +NM_000117.3:c.406G>C NP_000108.1:p.Asp136His NC_000023.11:154380758:G:C p.(Asp136His) NC_000023.11:154380758:G:C p.(Asp136His) NC_000023.11:154380758:G:C Identity +NM_001128844.3:c.452G>T NP_001122316.1:p.Gly151Val NC_000019.10:10986284:G:T p.(Gly151Val) NC_000019.10:10986284:G:T p.(Gly151Val) NC_000019.10:10986284:G:T Identity +NM_001267550.2:c.38353A>G NP_001254479.2:p.Lys12785Glu NC_000002.12:178654234:T:C p.(Lys12785Glu) NC_000002.12:178654234:T:C p.(Lys12785Glu) NC_000002.12:178654234:T:C Identity +NM_001378454.1:c.4154C>G NP_001365383.1:p.Thr1385Arg NC_000002.12:73450680:C:G p.(Thr1385Arg) NC_000002.12:73450680:C:G p.(Thr1385Arg) NC_000002.12:73450680:C:G Identity +NM_001386339.1:c.5154A>T NP_001373268.1:p.Arg1718Ser NC_000011.10:9785297:T:A p.(Arg1718Ser) NC_000011.10:9785297:T:A p.(Arg1718Ser) NC_000011.10:9785297:T:A Identity +NM_006393.3:c.1255G>T NP_006384.1:p.Glu419Ter NC_000010.11:20840821:C:A p.(Glu419Ter) NC_000010.11:20840821:C:A p.(Glu419Ter) NC_000010.11:20840821:C:A Identity +LRG_402t1:c.378T>A LRG_402p1:p.Ser126Arg NC_000001.11:237369601:T:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_015335.5:c.5949_5950del NP_056150.1:p.Gln1984fs NC_000012.12:115970710:GAGA:GA p.(Gln1984AlafsTer31) NC_000012.12:115970710:GAGA:GA p.(Gln1984AlafsTer31) NC_000012.12:115970710:GA: Analogous +NM_182894.3:c.71dup NP_878314.1:p.Ala25fs NC_000014.9:74239626:GGGGGG:GGGGGGG p.(Ala25ArgfsTer102) NC_000014.9:74239626:GGGGGG:GGGGGGG p.(Ala25ArgfsTer102) ERR:SPDI Analogous +LRG_727t2:c.623T>G LRG_727p2:p.Val208Gly NC_000022.11:50527610:A:C ERR:Data provider error: ValueError: Transcript LRG_727t2 not found ERR:Data provider error: ValueError: Transcript LRG_727t2 not found ERR:AlignmentMapper(tx_ac=LRG_727t2, alt_ac=LRG_727t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_727t2, alt_ac=LRG_727t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_727t2 not found +NM_002764.4:c.46T>C NP_002755.1:p.Ser16Pro NC_000023.11:107628673:T:C p.(Ser16Pro) NC_000023.11:107628673:T:C p.(Ser16Pro) NC_000023.11:107628673:T:C Identity +NM_000551.4:c.224TCT[1] NP_000542.1:p.Phe76del NC_000003.12:10142070:TCTTCT:TCT p.(Phe76del) NC_000003.12:10142070:T:TCT ERR:Parse ERR:Parse Identity +NM_000551.4:c.232A>T NP_000542.1:p.Asn78Tyr NC_000003.12:10142078:A:T p.(Asn78Tyr) NC_000003.12:10142078:A:T p.(Asn78Tyr) NC_000003.12:10142078:A:T Identity +NM_001256850.1:c.41313C>A NP_001243779.1:p.Cys13771Ter NC_000002.12:178620284:G:T p.(Cys13771Ter) NC_000002.12:178620284:G:T p.(Cys13771Ter) NC_000002.12:178620284:G:T Identity +NM_001318336.2:c.2182_2194dup NP_001305265.1:p.Gly732fs NC_000010.11:13657442:CCTGGGACTCCAG:CCTGGGACTCCAGCCTGGGACTCCAG p.(Gly732AlafsTer26) NC_000010.11:13657442:CCTGGGACTCCAG:CCTGGGACTCCAGCCTGGGACTCCAG p.(Gly732AlafsTer26) ERR:SPDI Analogous +NM_000169.3:c.353G>A NP_000160.1:p.Arg118His NC_000023.11:101403826:C:T p.(Arg118His) NC_000023.11:101403826:C:T p.(Arg118His) NC_000023.11:101403826:C:T Identity +NM_001008844.3:c.265G>A NP_001008844.1:p.Val89Met NC_000006.12:7555811:G:A p.(Val89Met) NC_000006.12:7555811:G:A p.(Val89Met) NC_000006.12:7555811:G:A Identity +NM_004415.4:c.5066T>C NP_004406.2:p.Ile1689Thr NC_000006.12:7581255:T:C p.(Ile1689Thr) NC_000006.12:7581255:T:C p.(Ile1689Thr) NC_000006.12:7581255:T:C Identity +NM_001256821.2:c.118A>C NP_001243750.1:p.Lys40Gln NC_000001.11:155910694:T:G p.(Lys40Gln) NC_000001.11:155910694:T:G p.(Lys40Gln) NC_000001.11:155910694:T:G Identity +NM_005249.5:c.821G>A NP_005240.3:p.Arg274Gln NC_000014.9:28768099:G:A p.(Arg274Gln) NC_000014.9:28768099:G:A p.(Arg274Gln) NC_000014.9:28768099:G:A Identity +NM_001371271.1:c.1859C>T NP_001358200.1:p.Thr620Met NC_000002.12:120984645:C:T p.(Thr620Met) NC_000002.12:120984645:C:T p.(Thr620Met) NC_000002.12:120984645:C:T Identity +NM_000059.4:c.10150C>G NP_000050.3:p.Arg3384Gly NC_000013.11:32398662:C:G p.(Arg3384Gly) NC_000013.11:32398662:C:G p.(Arg3384Gly) NC_000013.11:32398662:C:G Identity +NM_000179.3:c.1184C>T NP_000170.1:p.Thr395Ile NC_000002.12:47799166:C:T p.(Thr395Ile) NC_000002.12:47799166:C:T p.(Thr395Ile) NC_000002.12:47799166:C:T Identity +NM_000258.3:c.451G>A NP_000249.1:p.Ala151Thr NC_000003.12:46859504:C:T p.(Ala151Thr) NC_000003.12:46859504:C:T p.(Ala151Thr) NC_000003.12:46859504:C:T Identity +LRG_1122t1:c.695C>A LRG_1122p1:p.Thr232Asn NC_000009.12:136522896:G:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001035.3:c.13276GAA[2] NP_001026.2:p.Glu4428del NC_000001.11:237785981:AAGAAGAAGAA:AAGAAGAA p.(Glu4428del) NC_000001.11:237785983:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_001195227.2:c.1826C>G NP_001182156.1:p.Ala609Gly NC_000019.10:49188722:C:G p.(Ala609Gly) NC_000019.10:49188722:C:G p.(Ala609Gly) NC_000019.10:49188722:C:G Identity +NM_001354905.2:c.8033dup NP_001341834.1:p.Tyr2678Ter NC_000005.10:112844106:A:AA p.(Tyr2678Ter) NC_000005.10:112844106:A:AA p.(Tyr2678Ter) ERR:SPDI Identity +NM_000551.4:c.333C>G NP_000542.1:p.Ser111Arg NC_000003.12:10142179:C:G p.(Ser111Arg) NC_000003.12:10142179:C:G p.(Ser111Arg) NC_000003.12:10142179:C:G Identity +NM_015040.4:c.3150dup NP_055855.2:p.Asp1051fs NC_000002.12:208325957:AAAA:AAAAA p.(Asp1051ArgfsTer20) NC_000002.12:208325957:AAAA:AAAAA p.(Asp1051ArgfsTer20) ERR:SPDI Analogous +NM_001256850.1:c.2494G>T NP_001243779.1:p.Ala832Ser NC_000002.12:178784350:C:A p.(Ala832Ser) NC_000002.12:178784350:C:A p.(Ala832Ser) NC_000002.12:178784350:C:A Identity +NM_006734.4:c.1189G>T NP_006725.3:p.Asp397Tyr NC_000006.12:142773549:C:A p.(Asp397Tyr) NC_000006.12:142773549:C:A p.(Asp397Tyr) NC_000006.12:142773549:C:A Identity +NM_003331.5:c.1912C>T NP_003322.3:p.Arg638Ter NC_000019.10:10361816:G:A p.(Arg638Ter) NC_000019.10:10361816:G:A p.(Arg638Ter) NC_000019.10:10361816:G:A Identity +NM_153240.5:c.1920T>G NP_694972.3:p.Asp640Glu NC_000003.12:132699417:A:C p.(Asp640Glu) NC_000003.12:132699417:A:C p.(Asp640Glu) NC_000003.12:132699417:A:C Identity +NM_001918.5:c.1033G>A NP_001909.4:p.Gly345Arg NC_000001.11:100206620:C:T p.(Gly345Arg) NC_000001.11:100206620:C:T p.(Gly345Arg) NC_000001.11:100206620:C:T Identity +NM_001278196.2:c.133T>C NP_001265125.1:p.Cys45Arg NC_000001.11:244053933:T:C p.(Cys45Arg) NC_000001.11:244053933:T:C p.(Cys45Arg) NC_000001.11:244053933:T:C Identity +NM_001039375.3:c.155A>C NP_001034464.1:p.Lys52Thr NC_000020.11:13785222:A:C p.(Lys52Thr) NC_000020.11:13785222:A:C p.(Lys52Thr) NC_000020.11:13785222:A:C Identity +NM_000535.7:c.1500del NP_000526.2:p.Val501fs NC_000007.14:5987264:GG:G p.(Val501TrpfsTer94) NC_000007.14:5987264:GG:G p.(Val501TrpfsTer94) NC_000007.14:5987264:G: Analogous +NM_000138.5:c.3043G>A NP_000129.3:p.Ala1015Thr NC_000015.10:48489889:C:T p.(Ala1015Thr) NC_000015.10:48489889:C:T p.(Ala1015Thr) NC_000015.10:48489889:C:T Identity +NM_001353229.2:c.887C>T NP_001340158.1:p.Pro296Leu NC_000017.11:17221574:G:A p.(Pro296Leu) NC_000017.11:17221574:G:A p.(Pro296Leu) NC_000017.11:17221574:G:A Identity +NM_000356.4:c.2344C>G NP_000347.2:p.Gln782Glu NC_000005.10:150379324:C:G p.(Gln782Glu) NC_000005.10:150379324:C:G p.(Gln782Glu) NC_000005.10:150379324:C:G Identity +NM_001690.4:c.940A>G NP_001681.2:p.Asn314Asp NC_000003.12:113789791:A:G p.(Asn314Asp) NC_000003.12:113789791:A:G p.(Asn314Asp) NC_000003.12:113789791:A:G Identity +NM_001278716.2:c.1442T>C NP_001265645.1:p.Leu481Pro NC_000006.12:98875674:A:G p.(Leu481Pro) NC_000006.12:98875674:A:G p.(Leu481Pro) NC_000006.12:98875674:A:G Identity +LRG_337t1:c.1652G>A LRG_337p1:p.Cys551Tyr NC_000003.12:193647126:G:A ERR:Data provider error: ValueError: Transcript LRG_337t1 not found ERR:Data provider error: ValueError: Transcript LRG_337t1 not found ERR:AlignmentMapper(tx_ac=LRG_337t1, alt_ac=LRG_337t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_337t1, alt_ac=LRG_337t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_337t1 not found +NM_000426.4:c.715C>T NP_000417.3:p.Arg239Cys NC_000006.12:129143975:C:T p.(Arg239Cys) NC_000006.12:129143975:C:T p.(Arg239Cys) NC_000006.12:129143975:C:T Identity +NM_015335.5:c.124dup NP_056150.1:p.Asp42fs NC_000012.12:116237653:CCCC:CCCCC p.(Asp42GlyfsTer13) NC_000012.12:116237653:CCCC:CCCCC p.(Asp42GlyfsTer13) ERR:SPDI Analogous +NM_007255.3:c.122T>C NP_009186.1:p.Leu41Pro NC_000005.10:177604249:T:C p.(Leu41Pro) NC_000005.10:177604249:T:C p.(Leu41Pro) NC_000005.10:177604249:T:C Identity +NM_001407571.1:c.1387del NP_001394500.1:p.Gln463fs NC_000017.11:43093930:G: p.(Gln463ArgfsTer12) NC_000017.11:43093930:G: p.(Gln463ArgfsTer12) NC_000017.11:43093930:G: Analogous +NM_000308.4:c.833_834del NP_000299.3:p.Tyr278fs NC_000020.11:45894703:TAT:T p.(Tyr278CysfsTer12) NC_000020.11:45894703:TAT:T p.(Tyr278CysfsTer12) NC_000020.11:45894704:AT: Analogous +NM_000016.6:c.238A>G NP_000007.1:p.Arg80Gly NC_000001.11:75732873:A:G p.(Arg80Gly) NC_000001.11:75732873:A:G p.(Arg80Gly) NC_000001.11:75732873:A:G Identity +NM_001130690.3:c.320A>G NP_001124162.1:p.Tyr107Cys NC_000006.12:165450267:T:C p.(Tyr107Cys) NC_000006.12:165450267:T:C p.(Tyr107Cys) NC_000006.12:165450267:T:C Identity +NM_017950.4:c.2900G>T NP_060420.2:p.Arg967Leu NC_000017.11:80095329:G:T p.(Arg967Leu) NC_000017.11:80095329:G:T p.(Arg967Leu) NC_000017.11:80095329:G:T Identity +NM_001135058.2:c.841G>A NP_001128530.1:p.Asp281Asn NC_000014.9:30885500:G:A p.(Asp281Asn) NC_000014.9:30885500:G:A p.(Asp281Asn) NC_000014.9:30885500:G:A Identity +NM_001080463.2:c.2353C>T NP_001073932.1:p.Arg785Ter NC_000011.10:103135726:C:T p.(Arg785Ter) NC_000011.10:103135726:C:T p.(Arg785Ter) NC_000011.10:103135726:C:T Identity +NM_000540.3:c.14929G>C NP_000531.2:p.Glu4977Gln NC_000019.10:38586150:G:C p.(Glu4977Gln) NC_000019.10:38586150:G:C p.(Glu4977Gln) NC_000019.10:38586150:G:C Identity +NM_001407900.1:c.309delT NP_001394829.1:p.Gln104Lysfs NC_000017.11:43099802:A: p.(Gln104LysfsTer60) NC_000017.11:43099802:A: p.(Gln104LysfsTer60) NC_000017.11:43099802:A: Analogous +NM_001277269.2:c.1123A>T NP_001264198.1:p.Thr375Ser NC_000011.10:17558627:A:T p.(Thr375Ser) NC_000011.10:17558627:A:T p.(Thr375Ser) NC_000011.10:17558627:A:T Identity +NM_001272037.2:c.1020C>G NP_001258966.1:p.His340Gln NC_000021.9:44525764:G:C p.(His340Gln) NC_000021.9:44525764:G:C p.(His340Gln) NC_000021.9:44525764:G:C Identity +NM_001927.4:c.404C>T NP_001918.3:p.Ala135Val NC_000002.12:219418865:C:T p.(Ala135Val) NC_000002.12:219418865:C:T p.(Ala135Val) NC_000002.12:219418865:C:T Identity +NM_000444.6:c.1735G>A NP_000435.3:p.Gly579Arg NC_000023.11:22219069:G:A p.(Gly579Arg) NC_000023.11:22219069:G:A p.(Gly579Arg) NC_000023.11:22219069:G:A Identity +NM_000414.4:c.2060C>T NP_000405.1:p.Thr687Ile NC_000005.10:119536488:C:T p.(Thr687Ile) NC_000005.10:119536488:C:T p.(Thr687Ile) NC_000005.10:119536488:C:T Identity +NM_024915.4:c.34G>T NP_079191.2:p.Val12Leu NC_000008.11:101543253:G:T p.(Val12Leu) NC_000008.11:101543253:G:T p.(Val12Leu) NC_000008.11:101543253:G:T Identity +NM_000048.4:c.762C>A NP_000039.2:p.Ser254Arg NC_000007.14:66088849:C:A p.(Ser254Arg) NC_000007.14:66088849:C:A p.(Ser254Arg) NC_000007.14:66088849:C:A Identity +NM_001282164.2:c.655G>A NP_001269093.1:p.Ala219Thr NC_000012.12:132620570:G:A p.(Ala219Thr) NC_000012.12:132620570:G:A p.(Ala219Thr) NC_000012.12:132620570:G:A Identity +NM_007123.6:c.4313G>A NP_009054.6:p.Arg1438Lys NC_000001.11:216190305:C:T p.(Arg1438Lys) NC_000001.11:216190305:C:T p.(Arg1438Lys) NC_000001.11:216190305:C:T Identity +NM_001193307.2:c.460C>T NP_001180236.1:p.Gln154Ter NC_000007.14:93105637:G:A p.(Gln154Ter) NC_000007.14:93105637:G:A p.(Gln154Ter) NC_000007.14:93105637:G:A Identity +NM_003235.5:c.3035C>T NP_003226.4:p.Pro1012Leu NC_000008.11:132897681:C:T p.(Pro1012Leu) NC_000008.11:132897681:C:T p.(Pro1012Leu) NC_000008.11:132897681:C:T Identity +NM_001258205.2:c.881C>A NP_001245134.1:p.Ser294Ter NC_000017.11:3532840:G:T p.(Ser294Ter) NC_000017.11:3532840:G:T p.(Ser294Ter) NC_000017.11:3532840:G:T Identity +NM_206933.4:c.7000A>G NP_996816.3:p.Asn2334Asp NC_000001.11:215965436:T:C p.(Asn2334Asp) NC_000001.11:215965436:T:C p.(Asn2334Asp) NC_000001.11:215965436:T:C Identity +NM_001289067.2:c.374_381dup NP_001275996.1:p.Lys128Ter NC_000010.11:94562813:ATGAGGAAA:ATGAGGAAATGAGGAAA p.(Lys128Ter) NC_000010.11:94562813:ATGAGGAAA:ATGAGGAAATGAGGAAA p.(Lys128Ter) ERR:SPDI Identity +NM_001195573.1:c.4407_4410del NP_001182502.1:p.Ser1470fs NC_000014.9:95096509:AGAAAGA:AGA p.(Ser1470LeufsTer19) NC_000014.9:95096509:AGAAAGA:AGA p.(Ser1470LeufsTer19) NC_000014.9:95096509:AGAA: Analogous +NM_001368062.3:c.6602A>G NP_001354991.2:p.Asn2201Ser NC_000012.12:80372019:A:G p.(Asn2201Ser) NC_000012.12:80372019:A:G p.(Asn2201Ser) NC_000012.12:80372019:A:G Identity +NM_002016.2:c.6239C>A NP_002007.1:p.Ser2080Ter NC_000001.11:152308646:G:T p.(Ser2080Ter) NC_000001.11:152308646:G:T p.(Ser2080Ter) NC_000001.11:152308646:G:T Identity +NM_001163435.3:c.1532G>A NP_001156907.2:p.Arg511His NC_000004.12:106233044:C:T p.(Arg511His) NC_000004.12:106233044:C:T p.(Arg511His) NC_000004.12:106233044:C:T Identity +NM_020433.5:c.1640C>T NP_065166.2:p.Ala547Val NC_000020.11:44116034:G:A p.(Ala547Val) NC_000020.11:44116034:G:A p.(Ala547Val) NC_000020.11:44116034:G:A Identity +NM_000500.9:c.1174G>A NP_000491.4:p.Ala392Thr NC_000006.12:32040722:G:A p.(Ala392Thr) NC_000006.12:32040722:G:A p.(Ala392Thr) NC_000006.12:32040722:G:A Identity +NM_001290184.2:c.1240C>T NP_001277113.1:p.Arg414Ter NC_000001.11:160354237:C:T p.(Arg414Ter) NC_000001.11:160354237:C:T p.(Arg414Ter) NC_000001.11:160354237:C:T Identity +NM_000310.4:c.1A>G NP_000301.1:p.Met1Val NC_000001.11:40097237:T:C p.(Met1Val) NC_000001.11:40097237:T:C p.Met1? NC_000001.11:40097237:T:C Identity +NM_001256850.1:c.75571G>T NP_001243779.1:p.Glu25191Ter NC_000002.12:178565637:C:A p.(Glu25191Ter) NC_000002.12:178565637:C:A p.(Glu25191Ter) NC_000002.12:178565637:C:A Identity +NM_002471.4:c.104C>G NP_002462.2:p.Thr35Ser NC_000014.9:23407119:G:C p.(Thr35Ser) NC_000014.9:23407119:G:C p.(Thr35Ser) NC_000014.9:23407119:G:C Identity +NM_016239.4:c.3622C>T NP_057323.3:p.Arg1208Cys NC_000017.11:18124494:C:T p.(Arg1208Cys) NC_000017.11:18124494:C:T p.(Arg1208Cys) NC_000017.11:18124494:C:T Identity +NM_032119.4:c.3295A>G NP_115495.3:p.Thr1099Ala NC_000005.10:90651608:A:G p.(Thr1099Ala) NC_000005.10:90651608:A:G p.(Thr1099Ala) NC_000005.10:90651608:A:G Identity +NM_000016.6:c.985A>C NP_000007.1:p.Lys329Gln NC_000001.11:75761160:A:C p.(Lys329Gln) NC_000001.11:75761160:A:C p.(Lys329Gln) NC_000001.11:75761160:A:C Identity +NM_000016.6:c.1012C>T NP_000007.1:p.Gln338Ter NC_000001.11:75761187:C:T p.(Gln338Ter) NC_000001.11:75761187:C:T p.(Gln338Ter) NC_000001.11:75761187:C:T Identity +NM_001368062.3:c.3241C>A NP_001354991.2:p.Gln1081Lys NC_000012.12:80310652:C:A p.(Gln1081Lys) NC_000012.12:80310652:C:A p.(Gln1081Lys) NC_000012.12:80310652:C:A Identity +NM_001271769.2:c.1667C>A NP_001258698.1:p.Pro556Gln NC_000005.10:78129143:G:T p.(Pro556Gln) NC_000005.10:78129143:G:T p.(Pro556Gln) NC_000005.10:78129143:G:T Identity +NM_004281.4:c.695A>T NP_004272.2:p.His232Leu NC_000010.11:119672441:A:T p.(His232Leu) NC_000010.11:119672441:A:T p.(His232Leu) NC_000010.11:119672441:A:T Identity +NM_001302453.1:c.752A>G NP_001289382.1:p.Lys251Arg NC_000019.10:11426192:T:C p.(Lys251Arg) NC_000019.10:11426192:T:C p.(Lys251Arg) NC_000019.10:11426192:T:C Identity +NM_022114.4:c.1426C>T NP_071397.3:p.Pro476Ser NC_000001.11:3411622:C:T p.(Pro476Ser) NC_000001.11:3411622:C:T p.(Pro476Ser) NC_000001.11:3411622:C:T Identity +NM_032119.4:c.14185G>A NP_115495.3:p.Asp4729Asn NC_000005.10:90791013:G:A p.(Asp4729Asn) NC_000005.10:90791013:G:A p.(Asp4729Asn) NC_000005.10:90791013:G:A Identity +NM_001130101.3:c.1064G>A NP_001123573.1:p.Arg355Gln NC_000011.10:47268595:G:A p.(Arg355Gln) NC_000011.10:47268595:G:A p.(Arg355Gln) NC_000011.10:47268595:G:A Identity +NM_000527.5:c.1898G>A NP_000518.1:p.Arg633His NC_000019.10:11120143:G:A p.(Arg633His) NC_000019.10:11120143:G:A p.(Arg633His) NC_000019.10:11120143:G:A Identity +NM_014908.4:c.1450A>G NP_055723.1:p.Ile484Val NC_000009.12:128945853:T:C p.(Ile484Val) NC_000009.12:128945853:T:C p.(Ile484Val) NC_000009.12:128945853:T:C Identity +NM_001130089.2:c.1868C>G NP_001123561.1:p.Thr623Ser NC_000016.10:75627904:G:C p.(Thr623Ser) NC_000016.10:75627904:G:C p.(Thr623Ser) NC_000016.10:75627904:G:C Identity +NM_000363.5:c.622T>A NP_000354.4:p.Phe208Ile NC_000019.10:55151844:A:T p.(Phe208Ile) NC_000019.10:55151844:A:T p.(Phe208Ile) NC_000019.10:55151844:A:T Identity +NM_000109.4:c.5452G>C NP_000100.3:p.Glu1818Gln NC_000023.11:32346052:C:G p.(Glu1818Gln) NC_000023.11:32346052:C:G p.(Glu1818Gln) NC_000023.11:32346052:C:G Identity +NM_001297764.2:c.1235G>A NP_001284693.1:p.Arg412Gln NC_000011.10:17501972:C:T p.(Arg412Gln) NC_000011.10:17501972:C:T p.(Arg412Gln) NC_000011.10:17501972:C:T Identity +NM_000260.4:c.3591_3592del NP_000251.3:p.Cys1198fs NC_000011.10:77189425:TCTCTCT:TCTCT p.(Cys1198ArgfsTer30) NC_000011.10:77189425:TCTCTCT:TCTCT p.(Cys1198ArgfsTer30) NC_000011.10:77189430:CT: Analogous +NM_000179.3:c.2687A>T NP_000170.1:p.Lys896Ile NC_000002.12:47800669:A:T p.(Lys896Ile) NC_000002.12:47800669:A:T p.(Lys896Ile) NC_000002.12:47800669:A:T Identity +NM_001079812.3:c.1742G>T NP_001073280.1:p.Gly581Val NC_000005.10:141574080:C:A p.(Gly581Val) NC_000005.10:141574080:C:A p.(Gly581Val) NC_000005.10:141574080:C:A Identity +NM_001393500.2:c.97C>G NP_001380429.1:p.Leu33Val NC_000011.10:72106047:C:G p.(Leu33Val) NC_000011.10:72106047:C:G p.(Leu33Val) NC_000011.10:72106047:C:G Identity +NM_001692.4:c.1394G>T NP_001683.2:p.Arg465Leu NC_000002.12:70964972:G:T p.(Arg465Leu) NC_000002.12:70964972:G:T p.(Arg465Leu) NC_000002.12:70964972:G:T Identity +NM_001083908.2:c.1586A>C NP_001077377.1:p.Gln529Pro NC_000014.9:49633563:T:G p.(Gln529Pro) NC_000014.9:49633563:T:G p.(Gln529Pro) NC_000014.9:49633563:T:G Identity +NM_001008844.3:c.2546A>G NP_001008844.1:p.Tyr849Cys NC_000006.12:7575403:A:G p.(Tyr849Cys) NC_000006.12:7575403:A:G p.(Tyr849Cys) NC_000006.12:7575403:A:G Identity +NM_001198940.2:c.435G>A NP_001185869.1:p.Met145Ile NC_000018.10:34806290:G:A p.(Met145Ile) NC_000018.10:34806290:G:A p.(Met145Ile) NC_000018.10:34806290:G:A Identity +NM_001201397.2:c.224T>C NP_001188326.1:p.Leu75Pro NC_000013.11:77918619:A:G p.(Leu75Pro) NC_000013.11:77918619:A:G p.(Leu75Pro) NC_000013.11:77918619:A:G Identity +NM_002473.6:c.3697G>A NP_002464.1:p.Val1233Met NC_000022.11:36294231:C:T p.(Val1233Met) NC_000022.11:36294231:C:T p.(Val1233Met) NC_000022.11:36294231:C:T Identity +NM_001282164.2:c.211G>A NP_001269093.1:p.Glu71Lys NC_000012.12:132619475:G:A p.(Glu71Lys) NC_000012.12:132619475:G:A p.(Glu71Lys) NC_000012.12:132619475:G:A Identity +NM_001354689.3:c.172A>C NP_001341618.1:p.Ile58Leu NC_000003.12:12618549:T:G p.(Ile58Leu) NC_000003.12:12618549:T:G p.(Ile58Leu) NC_000003.12:12618549:T:G Identity +NM_001134363.3:c.2286dup NP_001127835.2:p.Glu763fs NC_000010.11:110812680:AAA:AAAA p.(Glu763ArgfsTer38) NC_000010.11:110812680:AAA:AAAA p.(Glu763ArgfsTer38) ERR:SPDI Analogous +NM_001378761.1:c.1144C>T NP_001365690.1:p.Arg382Cys NC_000011.10:121105952:C:T p.(Arg382Cys) NC_000011.10:121105952:C:T p.(Arg382Cys) NC_000011.10:121105952:C:T Identity +NM_001301012.2:c.1061G>A NP_001287941.1:p.Arg354His NC_000006.12:133506136:G:A p.(Arg354His) NC_000006.12:133506136:G:A p.(Arg354His) NC_000006.12:133506136:G:A Identity +NM_020433.5:c.376G>A NP_065166.2:p.Gly126Arg NC_000020.11:44186329:C:T p.(Gly126Arg) NC_000020.11:44186329:C:T p.(Gly126Arg) NC_000020.11:44186329:C:T Identity +NM_000257.4:c.4721G>A NP_000248.2:p.Arg1574Gln NC_000014.9:23416235:C:T p.(Arg1574Gln) NC_000014.9:23416235:C:T p.(Arg1574Gln) NC_000014.9:23416235:C:T Identity +NM_000051.4:c.3937G>C NP_000042.3:p.Glu1313Gln NC_000011.10:108284416:G:C p.(Glu1313Gln) NC_000011.10:108284416:G:C p.(Glu1313Gln) NC_000011.10:108284416:G:C Identity +NM_000059.4:c.7516C>T NP_000050.3:p.Gln2506Ter NC_000013.11:32356507:C:T p.(Gln2506Ter) NC_000013.11:32356507:C:T p.(Gln2506Ter) NC_000013.11:32356507:C:T Identity +NM_000465.4:c.281A>C NP_000456.2:p.Asp94Ala NC_000002.12:214792379:T:G p.(Asp94Ala) NC_000002.12:214792379:T:G p.(Asp94Ala) NC_000002.12:214792379:T:G Identity +NM_005359.6:c.565C>G NP_005350.1:p.Arg189Gly NC_000018.10:51054890:C:G p.(Arg189Gly) NC_000018.10:51054890:C:G p.(Arg189Gly) NC_000018.10:51054890:C:G Identity +NM_001256317.3:c.763G>T NP_001243246.1:p.Ala255Ser NC_000021.9:42383051:C:A p.(Ala255Ser) NC_000021.9:42383051:C:A p.(Ala255Ser) NC_000021.9:42383051:C:A Identity +NM_001251987.2:c.1370A>G NP_001238916.1:p.Gln457Arg NC_000006.12:123352540:T:C p.(Gln457Arg) NC_000006.12:123352540:T:C p.(Gln457Arg) NC_000006.12:123352540:T:C Identity +NM_001171930.2:c.2876C>T NP_001165401.1:p.Ala959Val NC_000010.11:71705052:C:T p.(Ala959Val) NC_000010.11:71705052:C:T p.(Ala959Val) NC_000010.11:71705052:C:T Identity +NM_000059.4:c.6715G>A NP_000050.3:p.Glu2239Lys NC_000013.11:32341069:G:A p.(Glu2239Lys) NC_000013.11:32341069:G:A p.(Glu2239Lys) NC_000013.11:32341069:G:A Identity +NM_000179.3:c.1151G>A NP_000170.1:p.Arg384Lys NC_000002.12:47799133:G:A p.(Arg384Lys) NC_000002.12:47799133:G:A p.(Arg384Lys) NC_000002.12:47799133:G:A Identity +NM_000336.3:c.1706C>T NP_000327.2:p.Ala569Val NC_000016.10:23380583:C:T p.(Ala569Val) NC_000016.10:23380583:C:T p.(Ala569Val) NC_000016.10:23380583:C:T Identity +NM_001378761.1:c.3494G>A NP_001365690.1:p.Gly1165Glu NC_000011.10:121129806:G:A p.(Gly1165Glu) NC_000011.10:121129806:G:A p.(Gly1165Glu) NC_000011.10:121129806:G:A Identity +NM_001256317.3:c.1000G>A NP_001243246.1:p.Asp334Asn NC_000021.9:42380164:C:T p.(Asp334Asn) NC_000021.9:42380164:C:T p.(Asp334Asn) NC_000021.9:42380164:C:T Identity +NM_133378.4:c.12635C>A NP_596869.4:p.Pro4212His NC_000002.12:178732693:G:T p.(Pro4212His) NC_000002.12:178732693:G:T p.(Pro4212His) NC_000002.12:178732693:G:T Identity +NM_133378.4:c.36280G>C NP_596869.4:p.Asp12094His NC_000002.12:178631063:C:G p.(Asp12094His) NC_000002.12:178631063:C:G p.(Asp12094His) NC_000002.12:178631063:C:G Identity +NM_133379.5:c.10837G>A NP_596870.2:p.Ala3613Thr NC_000002.12:178751562:C:T p.(Ala3613Thr) NC_000002.12:178751562:C:T p.(Ala3613Thr) NC_000002.12:178751562:C:T Identity +NM_133379.5:c.11512C>T NP_596870.2:p.Gln3838Ter NC_000002.12:178750887:G:A p.(Gln3838Ter) NC_000002.12:178750887:G:A p.(Gln3838Ter) NC_000002.12:178750887:G:A Identity +NM_000546.6:c.188C>G NP_000537.3:p.Ala63Gly NC_000017.11:7676180:G:C p.(Ala63Gly) NC_000017.11:7676180:G:C p.(Ala63Gly) NC_000017.11:7676180:G:C Identity +NM_001321038.2:c.831C>G NP_001307967.1:p.Asp277Glu NC_000001.11:108901822:C:G p.(Asp277Glu) NC_000001.11:108901822:C:G p.(Asp277Glu) NC_000001.11:108901822:C:G Identity +NM_001407571.1:c.2504del NP_001394500.1:p.Lys835fs NC_000017.11:43092813:TTTT:TTT p.(Lys835ArgfsTer94) NC_000017.11:43092813:TTTT:TTT p.(Lys835ArgfsTer94) NC_000017.11:43092813:T: Analogous +NM_024675.4:c.1573G>T NP_078951.2:p.Asp525Tyr NC_000016.10:23634972:C:A p.(Asp525Tyr) NC_000016.10:23634972:C:A p.(Asp525Tyr) NC_000016.10:23634972:C:A Identity +NM_133378.4:c.42938G>C NP_596869.4:p.Gly14313Ala NC_000002.12:178611586:C:G p.(Gly14313Ala) NC_000002.12:178611586:C:G p.(Gly14313Ala) NC_000002.12:178611586:C:G Identity +NM_001256850.1:c.61249C>T NP_001243779.1:p.Arg20417Cys NC_000002.12:178582196:G:A p.(Arg20417Cys) NC_000002.12:178582196:G:A p.(Arg20417Cys) NC_000002.12:178582196:G:A Identity +NM_000051.4:c.4175A>G NP_000042.3:p.Tyr1392Cys NC_000011.10:108289041:A:G p.(Tyr1392Cys) NC_000011.10:108289041:A:G p.(Tyr1392Cys) NC_000011.10:108289041:A:G Identity +NM_016239.4:c.4769A>G NP_057323.3:p.Tyr1590Cys NC_000017.11:18136675:A:G p.(Tyr1590Cys) NC_000017.11:18136675:A:G p.(Tyr1590Cys) NC_000017.11:18136675:A:G Identity +NM_016239.4:c.9181G>A NP_057323.3:p.Glu3061Lys NC_000017.11:18159298:G:A p.(Glu3061Lys) NC_000017.11:18159298:G:A p.(Glu3061Lys) NC_000017.11:18159298:G:A Identity +NM_000260.4:c.2798G>A NP_000251.3:p.Arg933His NC_000011.10:77181482:G:A p.(Arg933His) NC_000011.10:77181482:G:A p.(Arg933His) NC_000011.10:77181482:G:A Identity +NM_001368062.3:c.6112A>G NP_001354991.2:p.Ile2038Val NC_000012.12:80358879:A:G p.(Ile2038Val) NC_000012.12:80358879:A:G p.(Ile2038Val) NC_000012.12:80358879:A:G Identity +NM_001040633.2:c.356C>T NP_001035723.1:p.Pro119Leu NC_000007.14:151675615:G:A p.(Pro119Leu) NC_000007.14:151675615:G:A p.(Pro119Leu) NC_000007.14:151675615:G:A Identity +NM_001010892.3:c.1121G>A NP_001010892.1:p.Arg374His NC_000006.12:116627827:G:A p.(Arg374His) NC_000006.12:116627827:G:A p.(Arg374His) NC_000006.12:116627827:G:A Identity +NM_000059.4:c.9398C>T NP_000050.3:p.Ser3133Leu NC_000013.11:32394829:C:T p.(Ser3133Leu) NC_000013.11:32394829:C:T p.(Ser3133Leu) NC_000013.11:32394829:C:T Identity +NM_000059.4:c.2327A>G NP_000050.3:p.Lys776Arg NC_000013.11:32336681:A:G p.(Lys776Arg) NC_000013.11:32336681:A:G p.(Lys776Arg) NC_000013.11:32336681:A:G Identity +NM_004329.3:c.1438C>T NP_004320.2:p.Arg480Trp NC_000010.11:86923470:C:T p.(Arg480Trp) NC_000010.11:86923470:C:T p.(Arg480Trp) NC_000010.11:86923470:C:T Identity +NM_001024688.3:c.1270C>G NP_001019859.1:p.Gln424Glu NC_000008.11:89953572:G:C p.(Gln424Glu) NC_000008.11:89953572:G:C p.(Gln424Glu) NC_000008.11:89953572:G:C Identity +NM_000059.4:c.8060T>C NP_000050.3:p.Val2687Ala NC_000013.11:32363261:T:C p.(Val2687Ala) NC_000013.11:32363261:T:C p.(Val2687Ala) NC_000013.11:32363261:T:C Identity +LRG_292t1:c.3274G>A LRG_292p1:p.Glu1092Lys NC_000017.11:43092256:C:T ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000051.4:c.4247A>G NP_000042.3:p.Gln1416Arg NC_000011.10:108289611:A:G p.(Gln1416Arg) NC_000011.10:108289611:A:G p.(Gln1416Arg) NC_000011.10:108289611:A:G Identity +NM_001024688.3:c.820G>A NP_001019859.1:p.Ala274Thr NC_000008.11:89958782:C:T p.(Ala274Thr) NC_000008.11:89958782:C:T p.(Ala274Thr) NC_000008.11:89958782:C:T Identity +NM_058216.3:c.489T>A NP_478123.1:p.Ser163Arg NC_000017.11:58696776:T:A p.(Ser163Arg) NC_000017.11:58696776:T:A p.(Ser163Arg) NC_000017.11:58696776:T:A Identity +NM_000051.4:c.2295del NP_000042.3:p.Asn765fs NC_000011.10:108257524:T: p.(Asn765LysfsTer12) NC_000011.10:108257524:T: p.(Asn765LysfsTer12) NC_000011.10:108257524:T: Analogous +NM_000251.3:c.885C>G NP_000242.1:p.Asp295Glu NC_000002.12:47414360:C:G p.(Asp295Glu) NC_000002.12:47414360:C:G p.(Asp295Glu) NC_000002.12:47414360:C:G Identity +NM_001407571.1:c.3446A>T NP_001394500.1:p.Asp1149Val NC_000017.11:43091871:T:A p.(Asp1149Val) NC_000017.11:43091871:T:A p.(Asp1149Val) NC_000017.11:43091871:T:A Identity +NM_000059.4:c.5674G>T NP_000050.3:p.Gly1892Cys NC_000013.11:32340028:G:T p.(Gly1892Cys) NC_000013.11:32340028:G:T p.(Gly1892Cys) NC_000013.11:32340028:G:T Identity +NM_000249.4:c.29G>A NP_000240.1:p.Arg10Gln NC_000003.12:36993575:G:A p.(Arg10Gln) NC_000003.12:36993575:G:A p.(Arg10Gln) NC_000003.12:36993575:G:A Identity +NM_000251.3:c.755A>C NP_000242.1:p.Gln252Pro NC_000002.12:47412522:A:C p.(Gln252Pro) NC_000002.12:47412522:A:C p.(Gln252Pro) NC_000002.12:47412522:A:C Identity +NM_000535.7:c.1198C>T NP_000526.2:p.Gln400Ter NC_000007.14:5987566:G:A p.(Gln400Ter) NC_000007.14:5987566:G:A p.(Gln400Ter) NC_000007.14:5987566:G:A Identity +NM_005732.4:c.2650C>T NP_005723.2:p.Arg884Cys NC_000005.10:132604930:C:T p.(Arg884Cys) NC_000005.10:132604930:C:T p.(Arg884Cys) NC_000005.10:132604930:C:T Identity +NM_000249.4:c.2107G>A NP_000240.1:p.Glu703Lys NC_000003.12:37050488:G:A p.(Glu703Lys) NC_000003.12:37050488:G:A p.(Glu703Lys) NC_000003.12:37050488:G:A Identity +NM_133378.4:c.26356C>T NP_596869.4:p.Pro8786Ser NC_000002.12:178704281:G:A p.(Pro8786Ser) NC_000002.12:178704281:G:A p.(Pro8786Ser) NC_000002.12:178704281:G:A Identity +NM_133378.4:c.44626C>T NP_596869.4:p.Arg14876Cys NC_000002.12:178608680:G:A p.(Arg14876Cys) NC_000002.12:178608680:G:A p.(Arg14876Cys) NC_000002.12:178608680:G:A Identity +NM_000249.4:c.918del NP_000240.1:p.Asn306fs NC_000003.12:37020342:T: p.(Asn306LysfsTer61) NC_000003.12:37020342:T: p.(Asn306LysfsTer61) NC_000003.12:37020342:T: Analogous +NM_000546.6:c.1088G>A NP_000537.3:p.Arg363Lys NC_000017.11:7670620:C:T p.(Arg363Lys) NC_000017.11:7670620:C:T p.(Arg363Lys) NC_000017.11:7670620:C:T Identity +NM_133378.4:c.81811A>G NP_596869.4:p.Ile27271Val NC_000002.12:178553384:T:C p.(Ile27271Val) NC_000002.12:178553384:T:C p.(Ile27271Val) NC_000002.12:178553384:T:C Identity +NM_001145853.1:c.2285A>G NP_001139325.1:p.Lys762Arg NC_000004.12:6302079:A:G p.(Lys762Arg) NC_000004.12:6302079:A:G p.(Lys762Arg) NC_000004.12:6302079:A:G Identity +NM_000249.4:c.2072T>C NP_000240.1:p.Ile691Thr NC_000003.12:37048985:T:C p.(Ile691Thr) NC_000003.12:37048985:T:C p.(Ile691Thr) NC_000003.12:37048985:T:C Identity +NM_000059.4:c.8264G>T NP_000050.3:p.Gly2755Val NC_000013.11:32363465:G:T p.(Gly2755Val) NC_000013.11:32363465:G:T p.(Gly2755Val) NC_000013.11:32363465:G:T Identity +NM_000546.6:c.187G>A NP_000537.3:p.Ala63Thr NC_000017.11:7676181:C:T p.(Ala63Thr) NC_000017.11:7676181:C:T p.(Ala63Thr) NC_000017.11:7676181:C:T Identity +NM_000059.4:c.2838T>G NP_000050.3:p.Asp946Glu NC_000013.11:32337192:T:G p.(Asp946Glu) NC_000013.11:32337192:T:G p.(Asp946Glu) NC_000013.11:32337192:T:G Identity +NM_001407910.1:c.2971A>G NP_001394839.1:p.Ile991Val NC_000017.11:43092349:T:C p.(Ile991Val) NC_000017.11:43092349:T:C p.(Ile991Val) NC_000017.11:43092349:T:C Identity +NM_000251.3:c.769G>A NP_000242.1:p.Val257Ile NC_000002.12:47412536:G:A p.(Val257Ile) NC_000002.12:47412536:G:A p.(Val257Ile) NC_000002.12:47412536:G:A Identity +NM_000051.4:c.4994AAG[1] NP_000042.3:p.Glu1666del NC_000011.10:108297370:AAGAAG:AAG p.(Glu1666del) NC_000011.10:108297370:A:AAG ERR:Parse ERR:Parse Identity +NM_000059.4:c.3762G>T NP_000050.3:p.Glu1254Asp NC_000013.11:32338116:G:T p.(Glu1254Asp) NC_000013.11:32338116:G:T p.(Glu1254Asp) NC_000013.11:32338116:G:T Identity +NM_000179.3:c.1502_1511del NP_000170.1:p.His501fs NC_000002.12:47799484:ATATATCCAA: p.(His501ArgfsTer6) NC_000002.12:47799484:ATATATCCAA: p.(His501ArgfsTer6) NC_000002.12:47799484:ATATATCCAA: Analogous +NM_001352773.2:c.1039G>A NP_001339702.1:p.Ala347Thr NC_000017.11:41764937:C:T p.(Ala347Thr) NC_000017.11:41764937:C:T p.(Ala347Thr) NC_000017.11:41764937:C:T Identity +NM_000546.6:c.23C>T NP_000537.3:p.Pro8Leu NC_000017.11:7676571:G:A p.(Pro8Leu) NC_000017.11:7676571:G:A p.(Pro8Leu) NC_000017.11:7676571:G:A Identity +NM_004329.3:c.1549A>G NP_004320.2:p.Ile517Val NC_000010.11:86923668:A:G p.(Ile517Val) NC_000010.11:86923668:A:G p.(Ile517Val) NC_000010.11:86923668:A:G Identity +NM_000059.4:c.7030A>G NP_000050.3:p.Ile2344Val NC_000013.11:32354882:A:G p.(Ile2344Val) NC_000013.11:32354882:A:G p.(Ile2344Val) NC_000013.11:32354882:A:G Identity +NM_000251.3:c.1303G>A NP_000242.1:p.Val435Ile NC_000002.12:47445573:G:A p.(Val435Ile) NC_000002.12:47445573:G:A p.(Val435Ile) NC_000002.12:47445573:G:A Identity +NM_001035512.3:c.274dup NP_001030589.1:p.Tyr92fs NC_000001.11:161356810:T:TT p.(Tyr92LeufsTer81) NC_000001.11:161356810:T:TT p.(Tyr92LeufsTer81) ERR:SPDI Analogous +NM_000314.8:c.915T>G NP_000305.3:p.Ser305Arg NC_000010.11:87961006:T:G p.(Ser305Arg) NC_000010.11:87961006:T:G p.(Ser305Arg) NC_000010.11:87961006:T:G Identity +NM_001024688.3:c.1202T>C NP_001019859.1:p.Ile401Thr NC_000008.11:89953640:A:G p.(Ile401Thr) NC_000008.11:89953640:A:G p.(Ile401Thr) NC_000008.11:89953640:A:G Identity +NM_000059.4:c.6559C>T NP_000050.3:p.Pro2187Ser NC_000013.11:32340913:C:T p.(Pro2187Ser) NC_000013.11:32340913:C:T p.(Pro2187Ser) NC_000013.11:32340913:C:T Identity +NM_000249.4:c.2089C>G NP_000240.1:p.Leu697Val NC_000003.12:37049002:C:G p.(Leu697Val) NC_000003.12:37049002:C:G p.(Leu697Val) NC_000003.12:37049002:C:G Identity +NM_001999.4:c.8692G>T NP_001990.2:p.Glu2898Ter NC_000005.10:128259501:C:A p.(Glu2898Ter) NC_000005.10:128259501:C:A p.(Glu2898Ter) NC_000005.10:128259501:C:A Identity +NM_000257.4:c.1664A>G NP_000248.2:p.Asn555Ser NC_000014.9:23427808:T:C p.(Asn555Ser) NC_000014.9:23427808:T:C p.(Asn555Ser) NC_000014.9:23427808:T:C Identity +LRG_373t1:c.2011C>T LRG_373p1:p.Gln671Ter NC_000009.12:127501107:C:T ERR:Data provider error: ValueError: Transcript LRG_373t1 not found ERR:Data provider error: ValueError: Transcript LRG_373t1 not found ERR:AlignmentMapper(tx_ac=LRG_373t1, alt_ac=LRG_373t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_373t1, alt_ac=LRG_373t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_373t1 not found +NM_000059.4:c.6581T>C NP_000050.3:p.Ile2194Thr NC_000013.11:32340935:T:C p.(Ile2194Thr) NC_000013.11:32340935:T:C p.(Ile2194Thr) NC_000013.11:32340935:T:C Identity +NM_001317184.2:c.1091C>T NP_001304113.1:p.Thr364Ile NC_000016.10:68812216:C:T p.(Thr364Ile) NC_000016.10:68812216:C:T p.(Thr364Ile) NC_000016.10:68812216:C:T Identity +NM_000059.4:c.6267_6274del NP_000050.3:p.Glu2089fs NC_000013.11:32340621:GCATAGTC: p.(Glu2089AspfsTer8) NC_000013.11:32340621:GCATAGTC: p.(Glu2089AspfsTer8) NC_000013.11:32340621:GCATAGTC: Analogous +NM_000051.4:c.3291C>G NP_000042.3:p.Phe1097Leu NC_000011.10:108279496:C:G p.(Phe1097Leu) NC_000011.10:108279496:C:G p.(Phe1097Leu) NC_000011.10:108279496:C:G Identity +NM_000249.4:c.991G>A NP_000240.1:p.Glu331Lys NC_000003.12:37020415:G:A p.(Glu331Lys) NC_000003.12:37020415:G:A p.(Glu331Lys) NC_000003.12:37020415:G:A Identity +NM_000249.4:c.700G>A NP_000240.1:p.Glu234Lys NC_000003.12:37014453:G:A p.(Glu234Lys) NC_000003.12:37014453:G:A p.(Glu234Lys) NC_000003.12:37014453:G:A Identity +NM_001407842.1:c.2788T>C NP_001394771.1:p.Tyr930His NC_000017.11:43092598:A:G p.(Tyr930His) NC_000017.11:43092598:A:G p.(Tyr930His) NC_000017.11:43092598:A:G Identity +NM_000179.3:c.1898del NP_000170.1:p.Thr633fs NC_000002.12:47799880:C: p.(Thr633IlefsTer2) NC_000002.12:47799880:C: p.(Thr633IlefsTer2) NC_000002.12:47799880:C: Analogous +NM_001291997.2:c.802C>T NP_001278926.1:p.Arg268Cys NC_000016.10:79211691:C:T p.(Arg268Cys) NC_000016.10:79211691:C:T p.(Arg268Cys) NC_000016.10:79211691:C:T Identity +NM_176822.4:c.322A>T NP_789792.1:p.Lys108Ter NC_000011.10:7039745:A:T p.(Lys108Ter) NC_000011.10:7039745:A:T p.(Lys108Ter) NC_000011.10:7039745:A:T Identity +NM_006929.5:c.1046C>A NP_008860.4:p.Ala349Asp NC_000006.12:31962035:C:A p.(Ala349Asp) NC_000006.12:31962035:C:A p.(Ala349Asp) NC_000006.12:31962035:C:A Identity +NM_000038.6:c.947A>G NP_000029.2:p.Tyr316Cys NC_000005.10:112818978:A:G p.(Tyr316Cys) NC_000005.10:112818978:A:G p.(Tyr316Cys) NC_000005.10:112818978:A:G Identity +NM_000038.6:c.6614C>T NP_000029.2:p.Ser2205Phe NC_000005.10:112842207:C:T p.(Ser2205Phe) NC_000005.10:112842207:C:T p.(Ser2205Phe) NC_000005.10:112842207:C:T Identity +NM_000249.4:c.1468A>G NP_000240.1:p.Met490Val NC_000003.12:37028841:A:G p.(Met490Val) NC_000003.12:37028841:A:G p.(Met490Val) NC_000003.12:37028841:A:G Identity +NM_000465.4:c.617A>G NP_000456.2:p.Gln206Arg NC_000002.12:214781256:T:C p.(Gln206Arg) NC_000002.12:214781256:T:C p.(Gln206Arg) NC_000002.12:214781256:T:C Identity +NM_032043.3:c.2176G>A NP_114432.2:p.Glu726Lys NC_000017.11:61744512:C:T p.(Glu726Lys) NC_000017.11:61744512:C:T p.(Glu726Lys) NC_000017.11:61744512:C:T Identity +NM_000059.4:c.8996T>C NP_000050.3:p.Leu2999Pro NC_000013.11:32379791:T:C p.(Leu2999Pro) NC_000013.11:32379791:T:C p.(Leu2999Pro) NC_000013.11:32379791:T:C Identity +NM_000059.4:c.708TGA[1] NP_000050.3:p.Asp237del NC_000013.11:32330943:ATGATGA:ATGA p.(Asp237del) NC_000013.11:32330944:T:TGA ERR:Parse ERR:Parse Identity +NM_000251.3:c.756G>C NP_000242.1:p.Gln252His NC_000002.12:47412523:G:C p.(Gln252His) NC_000002.12:47412523:G:C p.(Gln252His) NC_000002.12:47412523:G:C Identity +NM_000038.6:c.1307A>T NP_000029.2:p.Asn436Ile NC_000005.10:112819338:A:T p.(Asn436Ile) NC_000005.10:112819338:A:T p.(Asn436Ile) NC_000005.10:112819338:A:T Identity +NM_173076.3:c.485C>T NP_775099.2:p.Ala162Val NC_000002.12:215052508:G:A p.(Ala162Val) NC_000002.12:215052508:G:A p.(Ala162Val) NC_000002.12:215052508:G:A Identity +NM_001130438.3:c.7414C>T NP_001123910.1:p.Arg2472Cys NC_000009.12:128633313:C:T p.(Arg2472Cys) NC_000009.12:128633313:C:T p.(Arg2472Cys) NC_000009.12:128633313:C:T Identity +NM_001127897.4:c.3466C>T NP_001121369.1:p.Arg1156Cys NC_000016.10:53605609:G:A p.(Arg1156Cys) NC_000016.10:53605609:G:A p.(Arg1156Cys) NC_000016.10:53605609:G:A Identity +NM_001290787.2:c.1184G>A NP_001277716.1:p.Arg395Gln NC_000002.12:232484471:C:T p.(Arg395Gln) NC_000002.12:232484471:C:T p.(Arg395Gln) NC_000002.12:232484471:C:T Identity +NM_000051.4:c.4145C>T NP_000042.3:p.Pro1382Leu NC_000011.10:108289011:C:T p.(Pro1382Leu) NC_000011.10:108289011:C:T p.(Pro1382Leu) NC_000011.10:108289011:C:T Identity +NM_000051.4:c.2584C>A NP_000042.3:p.Pro862Thr NC_000011.10:108267287:C:A p.(Pro862Thr) NC_000011.10:108267287:C:A p.(Pro862Thr) NC_000011.10:108267287:C:A Identity +NM_000251.3:c.1121A>G NP_000242.1:p.Gln374Arg NC_000002.12:47429785:A:G p.(Gln374Arg) NC_000002.12:47429785:A:G p.(Gln374Arg) NC_000002.12:47429785:A:G Identity +NM_000059.4:c.721A>T NP_000050.3:p.Lys241Ter NC_000013.11:32330957:A:T p.(Lys241Ter) NC_000013.11:32330957:A:T p.(Lys241Ter) NC_000013.11:32330957:A:T Identity +NM_000038.6:c.5114C>G NP_000029.2:p.Thr1705Ser NC_000005.10:112840707:C:G p.(Thr1705Ser) NC_000005.10:112840707:C:G p.(Thr1705Ser) NC_000005.10:112840707:C:G Identity +NM_032043.3:c.3097C>A NP_114432.2:p.Pro1033Thr NC_000017.11:61683948:G:T p.(Pro1033Thr) NC_000017.11:61683948:G:T p.(Pro1033Thr) NC_000017.11:61683948:G:T Identity +NM_178012.5:c.716G>T NP_821080.1:p.Cys239Phe NC_000006.12:3225372:C:A p.(Cys239Phe) NC_000006.12:3225372:C:A p.(Cys239Phe) NC_000006.12:3225372:C:A Identity +NM_001110792.2:c.714T>G NP_001104262.1:p.Phe238Leu NC_000023.11:154031149:A:C p.(Phe238Leu) NC_000023.11:154031149:A:C p.(Phe238Leu) NC_000023.11:154031149:A:C Identity +NM_014014.5:c.2879C>T NP_054733.2:p.Ala960Val NC_000002.12:96289859:G:A p.(Ala960Val) NC_000002.12:96289859:G:A p.(Ala960Val) NC_000002.12:96289859:G:A Identity +NM_006204.4:c.1892A>G NP_006195.3:p.Glu631Gly NC_000010.11:93646003:A:G p.(Glu631Gly) NC_000010.11:93646003:A:G p.(Glu631Gly) NC_000010.11:93646003:A:G Identity +NM_005732.4:c.1742A>G NP_005723.2:p.His581Arg NC_000005.10:132591982:A:G p.(His581Arg) NC_000005.10:132591982:A:G p.(His581Arg) NC_000005.10:132591982:A:G Identity +NM_001048171.2:c.218T>C NP_001041636.2:p.Leu73Pro NC_000001.11:45333458:A:G p.(Leu73Pro) NC_000001.11:45333458:A:G p.(Leu73Pro) NC_000001.11:45333458:A:G Identity +NM_000546.6:c.517G>A NP_000537.3:p.Val173Met NC_000017.11:7675094:C:T p.(Val173Met) NC_000017.11:7675094:C:T p.(Val173Met) NC_000017.11:7675094:C:T Identity +NM_001276503.2:c.211C>T NP_001263432.1:p.Pro71Ser NC_000011.10:112094845:C:T p.(Pro71Ser) NC_000011.10:112094845:C:T p.(Pro71Ser) NC_000011.10:112094845:C:T Identity +NM_005732.4:c.1366G>T NP_005723.2:p.Glu456Ter NC_000005.10:132589750:G:T p.(Glu456Ter) NC_000005.10:132589750:G:T p.(Glu456Ter) NC_000005.10:132589750:G:T Identity +NM_000059.4:c.7420GAA[2] NP_000050.3:p.Glu2476del NC_000013.11:32355272:GAAGAAGAA:GAAGAA p.(Glu2476del) NC_000013.11:32355272:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_000249.4:c.1090del NP_000240.1:p.Thr364fs NC_000003.12:37025686:AA:A p.(Thr364GlnfsTer3) NC_000003.12:37025686:AA:A p.(Thr364GlnfsTer3) NC_000003.12:37025687:A: Analogous +NM_001377948.1:c.933del NP_001364877.1:p.Val312fs NC_000014.9:21324861:T: p.(Val312TrpfsTer14) NC_000014.9:21324861:T: p.(Val312TrpfsTer14) NC_000014.9:21324861:T: Analogous +NM_000038.6:c.8412G>T NP_000029.2:p.Gln2804His NC_000005.10:112844005:G:T p.(Gln2804His) NC_000005.10:112844005:G:T p.(Gln2804His) NC_000005.10:112844005:G:T Identity +NM_000051.4:c.4784A>G NP_000042.3:p.Asn1595Ser NC_000011.10:108294933:A:G p.(Asn1595Ser) NC_000011.10:108294933:A:G p.(Asn1595Ser) NC_000011.10:108294933:A:G Identity +NM_005732.4:c.2129A>G NP_005723.2:p.Asp710Gly NC_000005.10:132595731:A:G p.(Asp710Gly) NC_000005.10:132595731:A:G p.(Asp710Gly) NC_000005.10:132595731:A:G Identity +NM_001375808.2:c.1489G>A NP_001362737.1:p.Glu497Lys NC_000018.10:2929125:C:T p.(Glu497Lys) NC_000018.10:2929125:C:T p.(Glu497Lys) NC_000018.10:2929125:C:T Identity +NM_018136.5:c.6183_6184del NP_060606.3:p.Lys2062fs NC_000001.11:197103066:TCT:T p.(Lys2062IlefsTer5) NC_000001.11:197103066:TCT:T p.(Lys2062IlefsTer5) NC_000001.11:197103066:TC: Analogous +NM_002485.5:c.55_56del NP_002476.2:p.Leu19fs NC_000008.11:89982836:AAAA:AA p.(Leu19AspfsTer4) NC_000008.11:89982836:AAAA:AA p.(Leu19AspfsTer4) NC_000008.11:89982836:AA: Analogous +NM_001317184.2:c.2406C>A NP_001304113.1:p.Asn802Lys NC_000016.10:68833438:C:A p.(Asn802Lys) NC_000016.10:68833438:C:A p.(Asn802Lys) NC_000016.10:68833438:C:A Identity +NM_000118.4:c.1672G>A NP_000109.1:p.Gly558Arg NC_000009.12:127818133:C:T p.(Gly558Arg) NC_000009.12:127818133:C:T p.(Gly558Arg) NC_000009.12:127818133:C:T Identity +NM_000143.4:c.1184C>T NP_000134.2:p.Thr395Ile NC_000001.11:241502494:G:A p.(Thr395Ile) NC_000001.11:241502494:G:A p.(Thr395Ile) NC_000001.11:241502494:G:A Identity +NM_000051.4:c.672G>C NP_000042.3:p.Lys224Asn NC_000011.10:108244796:G:C p.(Lys224Asn) NC_000011.10:108244796:G:C p.(Lys224Asn) NC_000011.10:108244796:G:C Identity +NM_000530.8:c.731G>T NP_000521.2:p.Arg244Leu NC_000001.11:161305891:C:A p.(Arg244Leu) NC_000001.11:161305891:C:A p.(Arg244Leu) NC_000001.11:161305891:C:A Identity +NM_000535.7:c.328G>T NP_000526.2:p.Ala110Ser NC_000007.14:6003714:C:A p.(Ala110Ser) NC_000007.14:6003714:C:A p.(Ala110Ser) NC_000007.14:6003714:C:A Identity +NM_000136.3:c.1663C>T NP_000127.2:p.Arg555Ter NC_000009.12:95101720:G:A p.(Arg555Ter) NC_000009.12:95101720:G:A p.(Arg555Ter) NC_000009.12:95101720:G:A Identity +LRG_386t1:c.497T>G LRG_386p1:p.Val166Gly NC_000011.10:47350021:A:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000179.3:c.3052C>A NP_000170.1:p.Leu1018Ile NC_000002.12:47801034:C:A p.(Leu1018Ile) NC_000002.12:47801034:C:A p.(Leu1018Ile) NC_000002.12:47801034:C:A Identity +NM_001330347.2:c.1394A>C NP_001317276.1:p.Glu465Ala NC_000011.10:94459513:T:G p.(Glu465Ala) NC_000011.10:94459513:T:G p.(Glu465Ala) NC_000011.10:94459513:T:G Identity +NM_001330347.2:c.224G>A NP_001317276.1:p.Cys75Tyr NC_000011.10:94486013:C:T p.(Cys75Tyr) NC_000011.10:94486013:C:T p.(Cys75Tyr) NC_000011.10:94486013:C:T Identity +NM_001206389.2:c.5C>A NP_001193318.1:p.Ala2Glu NC_000010.11:101774751:G:T p.(Ala2Glu) NC_000010.11:101774751:G:T p.(Ala2Glu) NC_000010.11:101774751:G:T Identity +NM_001042663.3:c.2705A>G NP_001036128.2:p.Gln902Arg NC_000001.11:6468241:T:C p.(Gln902Arg) NC_000001.11:6468241:T:C p.(Gln902Arg) NC_000001.11:6468241:T:C Identity +NM_001377498.1:c.170G>A NP_001364427.1:p.Arg57Gln NC_000002.12:219158192:C:T p.(Arg57Gln) NC_000002.12:219158192:C:T p.(Arg57Gln) NC_000002.12:219158192:C:T Identity +NM_030928.4:c.1436G>T NP_112190.2:p.Cys479Phe NC_000016.10:88807440:G:T p.(Cys479Phe) NC_000016.10:88807440:G:T p.(Cys479Phe) NC_000016.10:88807440:G:T Identity +NM_000314.8:c.1093G>A NP_000305.3:p.Val365Ile NC_000010.11:87965352:G:A p.(Val365Ile) NC_000010.11:87965352:G:A p.(Val365Ile) NC_000010.11:87965352:G:A Identity +NM_000368.5:c.782A>G NP_000359.1:p.Lys261Arg NC_000009.12:132912412:T:C p.(Lys261Arg) NC_000009.12:132912412:T:C p.(Lys261Arg) NC_000009.12:132912412:T:C Identity +NM_000384.3:c.13448C>T NP_000375.3:p.Ala4483Val NC_000002.12:21001973:G:A p.(Ala4483Val) NC_000002.12:21001973:G:A p.(Ala4483Val) NC_000002.12:21001973:G:A Identity +NM_000051.4:c.2143C>T NP_000042.3:p.Leu715Phe NC_000011.10:108256232:C:T p.(Leu715Phe) NC_000011.10:108256232:C:T p.(Leu715Phe) NC_000011.10:108256232:C:T Identity +NM_000051.4:c.1396C>T NP_000042.3:p.Gln466Ter NC_000011.10:108250860:C:T p.(Gln466Ter) NC_000011.10:108250860:C:T p.(Gln466Ter) NC_000011.10:108250860:C:T Identity +NM_000465.4:c.2224T>A NP_000456.2:p.Leu742Met NC_000002.12:214728785:A:T p.(Leu742Met) NC_000002.12:214728785:A:T p.(Leu742Met) NC_000002.12:214728785:A:T Identity +NM_001099922.3:c.2213A>G NP_001093392.1:p.Glu738Gly NC_000023.11:111727735:A:G p.(Glu738Gly) NC_000023.11:111727735:A:G p.(Glu738Gly) NC_000023.11:111727735:A:G Identity +LRG_722t1:c.775A>G LRG_722p1:p.Lys259Glu NC_000001.11:97679169:T:C ERR:Data provider error: ValueError: Transcript LRG_722t1 not found ERR:Data provider error: ValueError: Transcript LRG_722t1 not found ERR:AlignmentMapper(tx_ac=LRG_722t1, alt_ac=LRG_722t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_722t1, alt_ac=LRG_722t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_722t1 not found +NM_001128844.3:c.3985C>T NP_001122316.1:p.Arg1329Cys NC_000019.10:11034946:C:T p.(Arg1329Cys) NC_000019.10:11034946:C:T p.(Arg1329Cys) NC_000019.10:11034946:C:T Identity +NM_000051.4:c.1372T>C NP_000042.3:p.Cys458Arg NC_000011.10:108250836:T:C p.(Cys458Arg) NC_000011.10:108250836:T:C p.(Cys458Arg) NC_000011.10:108250836:T:C Identity +NM_001408511.1:c.640C>A NP_001395440.1:p.Pro214Thr NC_000017.11:43082427:G:T p.(Pro214Thr) NC_000017.11:43082427:G:T p.(Pro214Thr) NC_000017.11:43082427:G:T Identity +NM_001024688.3:c.628T>C NP_001019859.1:p.Ser210Pro NC_000008.11:89970385:A:G p.(Ser210Pro) NC_000008.11:89970385:A:G p.(Ser210Pro) NC_000008.11:89970385:A:G Identity +NM_001039213.4:c.703C>T NP_001034302.2:p.Arg235Cys NC_000019.10:44705630:C:T p.(Arg235Cys) NC_000019.10:44705630:C:T p.(Arg235Cys) NC_000019.10:44705630:C:T Identity +NM_005732.4:c.914A>G NP_005723.2:p.Asn305Ser NC_000005.10:132587951:A:G p.(Asn305Ser) NC_000005.10:132587951:A:G p.(Asn305Ser) NC_000005.10:132587951:A:G Identity +NM_001407571.1:c.2022A>C NP_001394500.1:p.Glu674Asp NC_000017.11:43093295:T:G p.(Glu674Asp) NC_000017.11:43093295:T:G p.(Glu674Asp) NC_000017.11:43093295:T:G Identity +NM_000059.4:c.4261T>C NP_000050.3:p.Phe1421Leu NC_000013.11:32338615:T:C p.(Phe1421Leu) NC_000013.11:32338615:T:C p.(Phe1421Leu) NC_000013.11:32338615:T:C Identity +NM_001079821.3:c.2738C>T NP_001073289.2:p.Thr913Met NC_000001.11:247444045:C:T p.(Thr913Met) NC_000001.11:247444045:C:T p.(Thr913Met) NC_000001.11:247444045:C:T Identity +NM_032043.3:c.1687_1689del NP_114432.2:p.Asp563del NC_000017.11:61780944:ATCA:A p.(Asp563del) NC_000017.11:61780944:ATCA:A p.(Asp563del) NC_000017.11:61780944:ATC: Identity +NM_000179.3:c.292G>T NP_000170.1:p.Ala98Ser NC_000002.12:47790957:G:T p.(Ala98Ser) NC_000002.12:47790957:G:T p.(Ala98Ser) NC_000002.12:47790957:G:T Identity +NM_000535.7:c.291C>A NP_000526.2:p.Asp97Glu NC_000007.14:6003751:G:T p.(Asp97Glu) NC_000007.14:6003751:G:T p.(Asp97Glu) NC_000007.14:6003751:G:T Identity +NM_000548.5:c.1213G>C NP_000539.2:p.Glu405Gln NC_000016.10:2061963:G:C p.(Glu405Gln) NC_000016.10:2061963:G:C p.(Glu405Gln) NC_000016.10:2061963:G:C Identity +NM_000553.6:c.1513A>C NP_000544.2:p.Thr505Pro NC_000008.11:31087856:A:C p.(Thr505Pro) NC_000008.11:31087856:A:C p.(Thr505Pro) NC_000008.11:31087856:A:C Identity +NM_001005373.4:c.268G>A NP_001005373.1:p.Asp90Asn NC_000009.12:127459017:G:A p.(Asp90Asn) NC_000009.12:127459017:G:A p.(Asp90Asn) NC_000009.12:127459017:G:A Identity +NM_000243.3:c.959G>C NP_000234.1:p.Gly320Ala NC_000016.10:3249731:C:G p.(Gly320Ala) NC_000016.10:3249731:C:G p.(Gly320Ala) NC_000016.10:3249731:C:G Identity +NM_001145252.3:c.236G>A NP_001138724.1:p.Arg79Gln NC_000023.11:47628268:C:T p.(Arg79Gln) NC_000023.11:47628268:C:T p.(Arg79Gln) NC_000023.11:47628268:C:T Identity +NM_001291860.2:c.6005G>A NP_001278789.1:p.Arg2002Gln NC_000001.11:21854978:C:T p.(Arg2002Gln) NC_000001.11:21854978:C:T p.(Arg2002Gln) NC_000001.11:21854978:C:T Identity +NM_001080517.3:c.382A>G NP_001073986.1:p.Ile128Val NC_000003.12:9434875:A:G p.(Ile128Val) NC_000003.12:9434875:A:G p.(Ile128Val) NC_000003.12:9434875:A:G Identity +NM_000179.3:c.763G>A NP_000170.1:p.Glu255Lys NC_000002.12:47798745:G:A p.(Glu255Lys) NC_000002.12:47798745:G:A p.(Glu255Lys) NC_000002.12:47798745:G:A Identity +LRG_1255t1:c.765G>A LRG_1255p1:p.Met255Ile NC_000012.12:76347219:C:T ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found +NM_001177431.1:c.602A>G NP_001170902.1:p.Tyr201Cys NC_000012.12:109802998:T:C p.(Tyr201Cys) NC_000012.12:109802998:T:C p.(Tyr201Cys) NC_000012.12:109802998:T:C Identity +NM_001177431.1:c.1810C>G NP_001170902.1:p.Pro604Ala NC_000012.12:109788695:G:C p.(Pro604Ala) NC_000012.12:109788695:G:C p.(Pro604Ala) NC_000012.12:109788695:G:C Identity +NM_000350.3:c.2692G>T NP_000341.2:p.Glu898Ter NC_000001.11:94048918:C:A p.(Glu898Ter) NC_000001.11:94048918:C:A p.(Glu898Ter) NC_000001.11:94048918:C:A Identity +NM_198578.4:c.4441G>A NP_940980.4:p.Ala1481Thr NC_000012.12:40310553:G:A p.(Ala1481Thr) NC_000012.12:40310553:G:A p.(Ala1481Thr) NC_000012.12:40310553:G:A Identity +NM_000257.4:c.717C>G NP_000248.2:p.Asp239Glu NC_000014.9:23431599:G:C p.(Asp239Glu) NC_000014.9:23431599:G:C p.(Asp239Glu) NC_000014.9:23431599:G:C Identity +NM_001363725.2:c.4142T>C NP_001350654.1:p.Ile1381Thr NC_000006.12:157207412:T:C p.(Ile1381Thr) NC_000006.12:157207412:T:C p.(Ile1381Thr) NC_000006.12:157207412:T:C Identity +NM_000448.3:c.2005G>A NP_000439.2:p.Glu669Lys NC_000011.10:36575308:G:A p.(Glu669Lys) NC_000011.10:36575308:G:A p.(Glu669Lys) NC_000011.10:36575308:G:A Identity +NM_000051.4:c.3977A>G NP_000042.3:p.Asn1326Ser NC_000011.10:108284456:A:G p.(Asn1326Ser) NC_000011.10:108284456:A:G p.(Asn1326Ser) NC_000011.10:108284456:A:G Identity +NM_001378454.1:c.10751A>T NP_001365383.1:p.Gln3584Leu NC_000002.12:73572627:A:T p.(Gln3584Leu) NC_000002.12:73572627:A:T p.(Gln3584Leu) NC_000002.12:73572627:A:T Identity +NM_000220.6:c.1091A>G NP_000211.1:p.Asp364Gly NC_000011.10:128839209:T:C p.(Asp364Gly) NC_000011.10:128839209:T:C p.(Asp364Gly) NC_000011.10:128839209:T:C Identity +NM_000352.6:c.3640C>T NP_000343.2:p.Arg1214Trp NC_000011.10:17402670:G:A p.(Arg1214Trp) NC_000011.10:17402670:G:A p.(Arg1214Trp) NC_000011.10:17402670:G:A Identity +NM_001099952.4:c.7516G>A NP_001093422.2:p.Gly2506Arg NC_000003.12:4814520:G:A p.(Gly2506Arg) NC_000003.12:4814520:G:A p.(Gly2506Arg) NC_000003.12:4814520:G:A Identity +NM_000350.3:c.3377T>C NP_000341.2:p.Leu1126Pro NC_000001.11:94041353:A:G p.(Leu1126Pro) NC_000001.11:94041353:A:G p.(Leu1126Pro) NC_000001.11:94041353:A:G Identity +NM_000117.3:c.445G>C NP_000108.1:p.Asp149His NC_000023.11:154380797:G:C p.(Asp149His) NC_000023.11:154380797:G:C p.(Asp149His) NC_000023.11:154380797:G:C Identity +NM_000179.3:c.2788A>G NP_000170.1:p.Lys930Glu NC_000002.12:47800770:A:G p.(Lys930Glu) NC_000002.12:47800770:A:G p.(Lys930Glu) NC_000002.12:47800770:A:G Identity +NM_000328.3:c.908G>A NP_000319.1:p.Gly303Glu NC_000023.11:38304660:C:T p.(Gly303Glu) NC_000023.11:38304660:C:T p.(Gly303Glu) NC_000023.11:38304660:C:T Identity +NM_000312.4:c.286C>T NP_000303.1:p.Pro96Ser NC_000002.12:127423056:C:T p.(Pro96Ser) NC_000002.12:127423056:C:T p.(Pro96Ser) NC_000002.12:127423056:C:T Identity +NM_000314.8:c.757_758dup NP_000305.3:p.Lys254fs NC_000010.11:87957972:ATAT:ATATAT p.(Lys254SerfsTer3) NC_000010.11:87957972:ATAT:ATATAT p.(Lys254SerfsTer3) ERR:SPDI Analogous +NM_000368.5:c.1276G>T NP_000359.1:p.Asp426Tyr NC_000009.12:132907357:C:A p.(Asp426Tyr) NC_000009.12:132907357:C:A p.(Asp426Tyr) NC_000009.12:132907357:C:A Identity +NM_000548.5:c.2647C>G NP_000539.2:p.Gln883Glu NC_000016.10:2076074:C:G p.(Gln883Glu) NC_000016.10:2076074:C:G p.(Gln883Glu) NC_000016.10:2076074:C:G Identity +NM_000059.4:c.464G>T NP_000050.3:p.Arg155Ile NC_000013.11:32326138:G:T p.(Arg155Ile) NC_000013.11:32326138:G:T p.(Arg155Ile) NC_000013.11:32326138:G:T Identity +NM_000553.6:c.106C>T NP_000544.2:p.Arg36Trp NC_000008.11:31059161:C:T p.(Arg36Trp) NC_000008.11:31059161:C:T p.(Arg36Trp) NC_000008.11:31059161:C:T Identity +NM_000553.6:c.2114C>T NP_000544.2:p.Thr705Ile NC_000008.11:31111639:C:T p.(Thr705Ile) NC_000008.11:31111639:C:T p.(Thr705Ile) NC_000008.11:31111639:C:T Identity +NM_001128844.3:c.4271C>G NP_001122316.1:p.Pro1424Arg NC_000019.10:11041406:C:G p.(Pro1424Arg) NC_000019.10:11041406:C:G p.(Pro1424Arg) NC_000019.10:11041406:C:G Identity +NM_001128844.3:c.4678G>T NP_001122316.1:p.Val1560Leu NC_000019.10:11059794:G:T p.(Val1560Leu) NC_000019.10:11059794:G:T p.(Val1560Leu) NC_000019.10:11059794:G:T Identity +NM_001080463.2:c.5114T>C NP_001073932.1:p.Leu1705Pro NC_000011.10:103170252:T:C p.(Leu1705Pro) NC_000011.10:103170252:T:C p.(Leu1705Pro) NC_000011.10:103170252:T:C Identity +NM_001256850.1:c.26247C>G NP_001243779.1:p.Asn8749Lys NC_000002.12:178712826:G:C p.(Asn8749Lys) NC_000002.12:178712826:G:C p.(Asn8749Lys) NC_000002.12:178712826:G:C Identity +NM_001256850.1:c.71074G>A NP_001243779.1:p.Gly23692Ser NC_000002.12:178570134:C:T p.(Gly23692Ser) NC_000002.12:178570134:C:T p.(Gly23692Ser) NC_000002.12:178570134:C:T Identity +NM_001130438.3:c.5867T>C NP_001123910.1:p.Met1956Thr NC_000009.12:128624361:T:C p.(Met1956Thr) NC_000009.12:128624361:T:C p.(Met1956Thr) NC_000009.12:128624361:T:C Identity +NM_001256850.1:c.22778G>T NP_001243779.1:p.Cys7593Phe NC_000002.12:178719762:C:A p.(Cys7593Phe) NC_000002.12:178719762:C:A p.(Cys7593Phe) NC_000002.12:178719762:C:A Identity +NM_001256850.1:c.36971T>G NP_001243779.1:p.Val12324Gly NC_000002.12:178635294:A:C p.(Val12324Gly) NC_000002.12:178635294:A:C p.(Val12324Gly) NC_000002.12:178635294:A:C Identity +NM_001148.6:c.7831T>C NP_001139.3:p.Tyr2611His NC_000004.12:113356448:T:C p.(Tyr2611His) NC_000004.12:113356448:T:C p.(Tyr2611His) NC_000004.12:113356448:T:C Identity +NM_001166108.2:c.1981G>C NP_001159580.1:p.Ala661Pro NC_000004.12:168890937:G:C p.(Ala661Pro) NC_000004.12:168890937:G:C p.(Ala661Pro) NC_000004.12:168890937:G:C Identity +NM_001267550.2:c.38902C>T NP_001254479.2:p.Pro12968Ser NC_000002.12:178652904:G:A p.(Pro12968Ser) NC_000002.12:178652904:G:A p.(Pro12968Ser) NC_000002.12:178652904:G:A Identity +NM_001165963.4:c.2861A>T NP_001159435.1:p.Glu954Val NC_000002.12:166037860:T:A p.(Glu954Val) NC_000002.12:166037860:T:A p.(Glu954Val) NC_000002.12:166037860:T:A Identity +NM_001256850.1:c.51658G>A NP_001243779.1:p.Ala17220Thr NC_000002.12:178599211:C:T p.(Ala17220Thr) NC_000002.12:178599211:C:T p.(Ala17220Thr) NC_000002.12:178599211:C:T Identity +NM_001256850.1:c.57773A>G NP_001243779.1:p.Tyr19258Cys NC_000002.12:178589028:T:C p.(Tyr19258Cys) NC_000002.12:178589028:T:C p.(Tyr19258Cys) NC_000002.12:178589028:T:C Identity +NM_001256850.1:c.78726G>C NP_001243779.1:p.Lys26242Asn NC_000002.12:178562482:C:G p.(Lys26242Asn) NC_000002.12:178562482:C:G p.(Lys26242Asn) NC_000002.12:178562482:C:G Identity +NM_001256850.1:c.88056A>C NP_001243779.1:p.Lys29352Asn NC_000002.12:178548646:T:G p.(Lys29352Asn) NC_000002.12:178548646:T:G p.(Lys29352Asn) NC_000002.12:178548646:T:G Identity +NM_001271.4:c.4231_4233del NP_001262.3:p.Lys1411del NC_000015.10:93002269:AAA: p.(Lys1411del) NC_000015.10:93002269:AAA: p.(Lys1411del) NC_000015.10:93002269:AAA: Identity +NM_001110556.2:c.7195G>A NP_001104026.1:p.Val2399Ile NC_000023.11:154350168:C:T p.(Val2399Ile) NC_000023.11:154350168:C:T p.(Val2399Ile) NC_000023.11:154350168:C:T Identity +NM_001001890.3:c.924G>T NP_001001890.1:p.Gln308His NC_000021.9:34792572:C:A p.(Gln308His) NC_000021.9:34792572:C:A p.(Gln308His) NC_000021.9:34792572:C:A Identity +NM_001105206.3:c.98C>G NP_001098676.2:p.Pro33Arg NC_000006.12:112254052:G:C p.(Pro33Arg) NC_000006.12:112254052:G:C p.(Pro33Arg) NC_000006.12:112254052:G:C Identity +NM_002471.4:c.4594C>T NP_002462.2:p.Arg1532Cys NC_000014.9:23387584:G:A p.(Arg1532Cys) NC_000014.9:23387584:G:A p.(Arg1532Cys) NC_000014.9:23387584:G:A Identity +NM_001256849.1:c.245C>T NP_001243778.1:p.Pro82Leu NC_000019.10:50399412:C:T p.(Pro82Leu) NC_000019.10:50399412:C:T p.(Pro82Leu) NC_000019.10:50399412:C:T Identity +NM_001276504.2:c.92G>A NP_001263433.1:p.Arg31Lys NC_000011.10:112088905:G:A p.(Arg31Lys) NC_000011.10:112088905:G:A p.(Arg31Lys) NC_000011.10:112088905:G:A Identity +NM_003036.4:c.487G>A NP_003027.1:p.Val163Ile NC_000001.11:2229252:G:A p.(Val163Ile) NC_000001.11:2229252:G:A p.(Val163Ile) NC_000001.11:2229252:G:A Identity +NM_001141945.3:c.138G>A NP_001135417.1:p.Met46Ile NC_000010.11:88947377:C:T p.(Met46Ile) NC_000010.11:88947377:C:T p.(Met46Ile) NC_000010.11:88947377:C:T Identity +NM_001999.4:c.460A>G NP_001990.2:p.Met154Val NC_000005.10:128527943:T:C p.(Met154Val) NC_000005.10:128527943:T:C p.(Met154Val) NC_000005.10:128527943:T:C Identity +NM_001024688.3:c.1492G>A NP_001019859.1:p.Val498Ile NC_000008.11:89953350:C:T p.(Val498Ile) NC_000008.11:89953350:C:T p.(Val498Ile) NC_000008.11:89953350:C:T Identity +NM_001024688.3:c.125G>A NP_001019859.1:p.Gly42Glu NC_000008.11:89980842:C:T p.(Gly42Glu) NC_000008.11:89980842:C:T p.(Gly42Glu) NC_000008.11:89980842:C:T Identity +NM_001024688.3:c.560G>A NP_001019859.1:p.Cys187Tyr NC_000008.11:89970453:C:T p.(Cys187Tyr) NC_000008.11:89970453:C:T p.(Cys187Tyr) NC_000008.11:89970453:C:T Identity +NM_001256849.1:c.2428G>A NP_001243778.1:p.Ala810Thr NC_000019.10:50414853:G:A p.(Ala810Thr) NC_000019.10:50414853:G:A p.(Ala810Thr) NC_000019.10:50414853:G:A Identity +NM_003124.5:c.112G>A NP_003115.1:p.Val38Ile NC_000002.12:72887543:G:A p.(Val38Ile) NC_000002.12:72887543:G:A p.(Val38Ile) NC_000002.12:72887543:G:A Identity +NM_004260.4:c.2849C>G NP_004251.4:p.Pro950Arg NC_000008.11:144512677:G:C p.(Pro950Arg) NC_000008.11:144512677:G:C p.(Pro950Arg) NC_000008.11:144512677:G:C Identity +NM_001317184.2:c.1283C>T NP_001304113.1:p.Pro428Leu NC_000016.10:68815659:C:T p.(Pro428Leu) NC_000016.10:68815659:C:T p.(Pro428Leu) NC_000016.10:68815659:C:T Identity +NM_001363813.1:c.1708T>G NP_001350742.1:p.Phe570Val NC_000017.11:65537327:A:C p.(Phe570Val) NC_000017.11:65537327:A:C p.(Phe570Val) NC_000017.11:65537327:A:C Identity +NM_004655.4:c.1744A>C NP_004646.3:p.Asn582His NC_000017.11:65537031:T:G p.(Asn582His) NC_000017.11:65537031:T:G p.(Asn582His) NC_000017.11:65537031:T:G Identity +NM_001035511.3:c.85C>G NP_001030588.1:p.Pro29Ala NC_000001.11:161328402:C:G p.(Pro29Ala) NC_000001.11:161328402:C:G p.(Pro29Ala) NC_000001.11:161328402:C:G Identity +NM_001347827.2:c.322G>A NP_001334756.1:p.Glu108Lys NC_000004.12:54261366:G:A p.(Glu108Lys) NC_000004.12:54261366:G:A p.(Glu108Lys) NC_000004.12:54261366:G:A Identity +NM_006231.4:c.1993C>T NP_006222.2:p.Arg665Trp NC_000012.12:132668667:G:A p.(Arg665Trp) NC_000012.12:132668667:G:A p.(Arg665Trp) NC_000012.12:132668667:G:A Identity +NM_004260.4:c.1096G>C NP_004251.4:p.Gly366Arg NC_000008.11:144516022:C:G p.(Gly366Arg) NC_000008.11:144516022:C:G p.(Gly366Arg) NC_000008.11:144516022:C:G Identity +NM_001317184.2:c.1036C>G NP_001304113.1:p.Gln346Glu NC_000016.10:68812161:C:G p.(Gln346Glu) NC_000016.10:68812161:C:G p.(Gln346Glu) NC_000016.10:68812161:C:G Identity +NM_004260.4:c.1756G>T NP_004251.4:p.Gly586Trp NC_000008.11:144514310:C:A p.(Gly586Trp) NC_000008.11:144514310:C:A p.(Gly586Trp) NC_000008.11:144514310:C:A Identity +NM_004260.4:c.2545G>A NP_004251.4:p.Val849Met NC_000008.11:144513056:C:T p.(Val849Met) NC_000008.11:144513056:C:T p.(Val849Met) NC_000008.11:144513056:C:T Identity +NM_001353765.2:c.53C>T NP_001340694.1:p.Ser18Leu NC_000002.12:29223443:G:A p.(Ser18Leu) NC_000002.12:29223443:G:A p.(Ser18Leu) NC_000002.12:29223443:G:A Identity +NM_001080114.2:c.1051T>G NP_001073583.1:p.Tyr351Asp NC_000010.11:86716475:T:G p.(Tyr351Asp) NC_000010.11:86716475:T:G p.(Tyr351Asp) NC_000010.11:86716475:T:G Identity +NM_006231.4:c.139C>T NP_006222.2:p.Arg47Trp NC_000012.12:132681202:G:A p.(Arg47Trp) NC_000012.12:132681202:G:A p.(Arg47Trp) NC_000012.12:132681202:G:A Identity +NM_006231.4:c.1847G>A NP_006222.2:p.Arg616His NC_000012.12:132668886:C:T p.(Arg616His) NC_000012.12:132668886:C:T p.(Arg616His) NC_000012.12:132668886:C:T Identity +NM_006231.4:c.2090C>G NP_006222.2:p.Pro697Arg NC_000012.12:132668438:G:C p.(Pro697Arg) NC_000012.12:132668438:G:C p.(Pro697Arg) NC_000012.12:132668438:G:C Identity +NM_001251987.2:c.502G>A NP_001238916.1:p.Glu168Lys NC_000006.12:123516188:C:T p.(Glu168Lys) NC_000006.12:123516188:C:T p.(Glu168Lys) NC_000006.12:123516188:C:T Identity +NM_006231.4:c.2089C>G NP_006222.2:p.Pro697Ala NC_000012.12:132668439:G:C p.(Pro697Ala) NC_000012.12:132668439:G:C p.(Pro697Ala) NC_000012.12:132668439:G:C Identity +NM_006231.4:c.4892G>A NP_006222.2:p.Arg1631His NC_000012.12:132642565:C:T p.(Arg1631His) NC_000012.12:132642565:C:T p.(Arg1631His) NC_000012.12:132642565:C:T Identity +NM_006231.4:c.6796G>A NP_006222.2:p.Gly2266Ser NC_000012.12:132624761:C:T p.(Gly2266Ser) NC_000012.12:132624761:C:T p.(Gly2266Ser) NC_000012.12:132624761:C:T Identity +NM_006231.4:c.3971G>T NP_006222.2:p.Arg1324Leu NC_000012.12:132649339:C:A p.(Arg1324Leu) NC_000012.12:132649339:C:A p.(Arg1324Leu) NC_000012.12:132649339:C:A Identity +NM_006231.4:c.4556G>A NP_006222.2:p.Arg1519His NC_000012.12:132642991:C:T p.(Arg1519His) NC_000012.12:132642991:C:T p.(Arg1519His) NC_000012.12:132642991:C:T Identity +NM_001293306.2:c.1277G>A NP_001280235.2:p.Arg426Gln NC_000003.12:38756686:C:T p.(Arg426Gln) NC_000003.12:38756686:C:T p.(Arg426Gln) NC_000003.12:38756686:C:T Identity +NM_006231.4:c.691C>T NP_006222.2:p.Arg231Cys NC_000012.12:132677606:G:A p.(Arg231Cys) NC_000012.12:132677606:G:A p.(Arg231Cys) NC_000012.12:132677606:G:A Identity +NM_014000.3:c.2853del NP_054706.1:p.Glu952fs NC_000010.11:74112015:T: p.(Glu952SerfsTer4) NC_000010.11:74112015:T: p.(Glu952SerfsTer4) NC_000010.11:74112015:T: Analogous +NM_001178133.2:c.1015C>T NP_001171604.1:p.Arg339Trp NC_000010.11:102599536:C:T p.(Arg339Trp) NC_000010.11:102599536:C:T p.(Arg339Trp) NC_000010.11:102599536:C:T Identity +NM_014365.3:c.116C>T NP_055180.1:p.Pro39Leu NC_000012.12:119179427:C:T p.(Pro39Leu) NC_000012.12:119179427:C:T p.(Pro39Leu) NC_000012.12:119179427:C:T Identity +NM_001243342.2:c.1138G>A NP_001230271.1:p.Ala380Thr NC_000017.11:80050261:G:A p.(Ala380Thr) NC_000017.11:80050261:G:A p.(Ala380Thr) NC_000017.11:80050261:G:A Identity +NM_001243342.2:c.2785G>A NP_001230271.1:p.Gly929Ser NC_000017.11:80089836:G:A p.(Gly929Ser) NC_000017.11:80089836:G:A p.(Gly929Ser) NC_000017.11:80089836:G:A Identity +NM_032444.4:c.4057C>A NP_115820.2:p.His1353Asn NC_000016.10:3589580:G:T p.(His1353Asn) NC_000016.10:3589580:G:T p.(His1353Asn) NC_000016.10:3589580:G:T Identity +NM_001378454.1:c.3305A>C NP_001365383.1:p.Lys1102Thr NC_000002.12:73449831:A:C p.(Lys1102Thr) NC_000002.12:73449831:A:C p.(Lys1102Thr) NC_000002.12:73449831:A:C Identity +LRG_1122t1:c.256G>T LRG_1122p1:p.Ala86Ser NC_000009.12:136523863:C:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +LRG_1122t1:c.4915G>A LRG_1122p1:p.Ala1639Thr NC_000009.12:136504775:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001290020.2:c.1237C>G NP_001276949.1:p.Arg413Gly NC_000010.11:27968923:G:C p.(Arg413Gly) NC_000010.11:27968923:G:C p.(Arg413Gly) NC_000010.11:27968923:G:C Identity +NM_001135745.2:c.475G>A NP_001129217.1:p.Glu159Lys NC_000002.12:201761518:C:T p.(Glu159Lys) NC_000002.12:201761518:C:T p.(Glu159Lys) NC_000002.12:201761518:C:T Identity +NM_024675.4:c.3553T>C NP_078951.2:p.Tyr1185His NC_000016.10:23603466:A:G p.(Tyr1185His) NC_000016.10:23603466:A:G p.(Tyr1185His) NC_000016.10:23603466:A:G Identity +NM_025099.6:c.2162G>C NP_079375.3:p.Gly721Ala NC_000017.11:8232125:C:G p.(Gly721Ala) NC_000017.11:8232125:C:G p.(Gly721Ala) NC_000017.11:8232125:C:G Identity +NM_001330660.2:c.946G>A NP_001317589.1:p.Gly316Arg NC_000009.12:35740904:C:T p.(Gly316Arg) NC_000009.12:35740904:C:T p.(Gly316Arg) NC_000009.12:35740904:C:T Identity +NM_001406782.1:c.624G>T NP_001393711.1:p.Glu208Asp NC_000010.11:43102627:G:T p.(Glu208Asp) NC_000010.11:43102627:G:T p.(Glu208Asp) NC_000010.11:43102627:G:T Identity +NM_001355530.2:c.401A>G NP_001342459.1:p.Lys134Arg NC_000007.14:105565597:T:C p.(Lys134Arg) NC_000007.14:105565597:T:C p.(Lys134Arg) NC_000007.14:105565597:T:C Identity +NM_001346599.2:c.415G>T NP_001333528.1:p.Val139Phe NC_000007.14:105547042:G:T p.(Val139Phe) NC_000007.14:105547042:G:T p.(Val139Phe) NC_000007.14:105547042:G:T Identity +NM_030777.4:c.674G>A NP_110404.1:p.Arg225His NC_000020.11:46725709:G:A p.(Arg225His) NC_000020.11:46725709:G:A p.(Arg225His) NC_000020.11:46725709:G:A Identity +NM_001195573.1:c.4802A>T NP_001182502.1:p.Lys1601Met NC_000014.9:95096117:T:A p.(Lys1601Met) NC_000014.9:95096117:T:A p.(Lys1601Met) NC_000014.9:95096117:T:A Identity +NM_178170.3:c.419G>T NP_835464.1:p.Arg140Leu NC_000017.11:28734936:G:T p.(Arg140Leu) NC_000017.11:28734936:G:T p.(Arg140Leu) NC_000017.11:28734936:G:T Identity +NM_017934.7:c.50T>C NP_060404.4:p.Phe17Ser NC_000006.12:79077903:A:G p.(Phe17Ser) NC_000006.12:79077903:A:G p.(Phe17Ser) NC_000006.12:79077903:A:G Identity +NM_017934.7:c.779del NP_060404.4:p.Leu260fs NC_000006.12:79025985:AAA:AA p.(Leu260TrpfsTer48) NC_000006.12:79025985:AAA:AA p.(Leu260TrpfsTer48) NC_000006.12:79025985:A: Analogous +NM_024675.4:c.3328C>G NP_078951.2:p.Leu1110Val NC_000016.10:23607885:G:C p.(Leu1110Val) NC_000016.10:23607885:G:C p.(Leu1110Val) NC_000016.10:23607885:G:C Identity +NM_001286506.2:c.619G>A NP_001273435.1:p.Gly207Arg NC_000021.9:42476041:C:T p.(Gly207Arg) NC_000021.9:42476041:C:T p.(Gly207Arg) NC_000021.9:42476041:C:T Identity +NM_001257281.2:c.410A>G NP_001244210.1:p.Tyr137Cys NC_000002.12:232087529:A:G p.(Tyr137Cys) NC_000002.12:232087529:A:G p.(Tyr137Cys) NC_000002.12:232087529:A:G Identity +NM_001122955.4:c.505C>T NP_001116427.1:p.Pro169Ser NC_000011.10:62694692:G:A p.(Pro169Ser) NC_000011.10:62694692:G:A p.(Pro169Ser) NC_000011.10:62694692:G:A Identity +NM_138694.4:c.11738G>A NP_619639.3:p.Arg3913His NC_000006.12:51627043:C:T p.(Arg3913His) NC_000006.12:51627043:C:T p.(Arg3913His) NC_000006.12:51627043:C:T Identity +NM_001160227.2:c.328A>G NP_001153699.1:p.Asn110Asp NC_000015.10:44660545:T:C p.(Asn110Asp) NC_000015.10:44660545:T:C p.(Asn110Asp) NC_000015.10:44660545:T:C Identity +NM_001972.4:c.452G>T NP_001963.1:p.Cys151Phe NC_000019.10:855648:G:T p.(Cys151Phe) NC_000019.10:855648:G:T p.(Cys151Phe) NC_000019.10:855648:G:T Identity +NM_152594.3:c.995G>A NP_689807.1:p.Arg332His NC_000015.10:38351323:G:A p.(Arg332His) NC_000015.10:38351323:G:A p.(Arg332His) NC_000015.10:38351323:G:A Identity +NM_001195573.1:c.4489G>A NP_001182502.1:p.Asp1497Asn NC_000014.9:95096430:C:T p.(Asp1497Asn) NC_000014.9:95096430:C:T p.(Asp1497Asn) NC_000014.9:95096430:C:T Identity +NM_001972.4:c.568G>A NP_001963.1:p.Val190Met NC_000019.10:855764:G:A p.(Val190Met) NC_000019.10:855764:G:A p.(Val190Met) NC_000019.10:855764:G:A Identity +NM_001304481.2:c.584T>C NP_001291410.1:p.Leu195Pro NC_000012.12:32582195:T:C p.(Leu195Pro) NC_000012.12:32582195:T:C p.(Leu195Pro) NC_000012.12:32582195:T:C Identity +NM_001321269.2:c.240G>T NP_001308198.1:p.Trp80Cys NC_000017.11:58216686:C:A p.(Trp80Cys) NC_000017.11:58216686:C:A p.(Trp80Cys) NC_000017.11:58216686:C:A Identity +NM_002180.3:c.660A>C NP_002171.2:p.Lys220Asn NC_000011.10:68911551:A:C p.(Lys220Asn) NC_000011.10:68911551:A:C p.(Lys220Asn) NC_000011.10:68911551:A:C Identity +NM_001447.3:c.2773T>C NP_001438.1:p.Cys925Arg NC_000005.10:151566158:A:G p.(Cys925Arg) NC_000005.10:151566158:A:G p.(Cys925Arg) NC_000005.10:151566158:A:G Identity +NM_133436.3:c.1439C>T NP_597680.2:p.Ser480Phe NC_000007.14:97853096:G:A p.(Ser480Phe) NC_000007.14:97853096:G:A p.(Ser480Phe) NC_000007.14:97853096:G:A Identity +NM_001256850.1:c.57799C>T NP_001243779.1:p.Arg19267Ter NC_000002.12:178589002:G:A p.(Arg19267Ter) NC_000002.12:178589002:G:A p.(Arg19267Ter) NC_000002.12:178589002:G:A Identity +NM_001301339.2:c.172G>C NP_001288268.1:p.Gly58Arg NC_000022.11:23767462:C:G p.(Gly58Arg) NC_000022.11:23767462:C:G p.(Gly58Arg) NC_000022.11:23767462:C:G Identity +NM_002180.3:c.92G>A NP_002171.2:p.Trp31Ter NC_000011.10:68906073:G:A p.(Trp31Ter) NC_000011.10:68906073:G:A p.(Trp31Ter) NC_000011.10:68906073:G:A Identity +NM_000090.4:c.3851G>A NP_000081.2:p.Gly1284Glu NC_000002.12:189010204:G:A p.(Gly1284Glu) NC_000002.12:189010204:G:A p.(Gly1284Glu) NC_000002.12:189010204:G:A Identity +NM_001363725.2:c.2143dup NP_001350654.1:p.Tyr715fs NC_000006.12:157200866:T:TT p.(Tyr715LeufsTer34) NC_000006.12:157200866:T:TT p.(Tyr715LeufsTer34) ERR:SPDI Analogous +NM_001135005.3:c.43C>T NP_001128477.1:p.Pro15Ser NC_000009.12:34990672:C:T p.(Pro15Ser) NC_000009.12:34990672:C:T p.(Pro15Ser) NC_000009.12:34990672:C:T Identity +NM_000052.7:c.922A>G NP_000043.4:p.Ile308Val NC_000023.11:77989543:A:G p.(Ile308Val) NC_000023.11:77989543:A:G p.(Ile308Val) NC_000023.11:77989543:A:G Identity +NM_001080522.2:c.4093GAA[2] NP_001073991.2:p.Glu1367del NC_000004.12:15587842:GAAGAAGAA:GAAGAA p.(Glu1367del) NC_000004.12:15587842:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_001386339.1:c.4411C>T NP_001373268.1:p.Gln1471Ter NC_000011.10:9808127:G:A p.(Gln1471Ter) NC_000011.10:9808127:G:A p.(Gln1471Ter) NC_000011.10:9808127:G:A Identity +NM_000251.3:c.2290T>G NP_000242.1:p.Trp764Gly NC_000002.12:47478350:T:G p.(Trp764Gly) NC_000002.12:47478350:T:G p.(Trp764Gly) NC_000002.12:47478350:T:G Identity +NM_001376.5:c.3370C>T NP_001367.2:p.His1124Tyr NC_000014.9:101995021:C:T p.(His1124Tyr) NC_000014.9:101995021:C:T p.(His1124Tyr) NC_000014.9:101995021:C:T Identity +LRG_359t1:c.383T>C LRG_359p1:p.Ile128Thr NC_000016.10:70276581:A:G ERR:Data provider error: ValueError: Transcript LRG_359t1 not found ERR:Data provider error: ValueError: Transcript LRG_359t1 not found ERR:AlignmentMapper(tx_ac=LRG_359t1, alt_ac=LRG_359t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_359t1, alt_ac=LRG_359t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_359t1 not found +NM_014762.4:c.918G>C NP_055577.1:p.Lys306Asn NC_000001.11:54865404:C:G p.(Lys306Asn) NC_000001.11:54865404:C:G p.(Lys306Asn) NC_000001.11:54865404:C:G Identity +NM_001256849.1:c.2360C>T NP_001243778.1:p.Pro787Leu NC_000019.10:50413850:C:T p.(Pro787Leu) NC_000019.10:50413850:C:T p.(Pro787Leu) NC_000019.10:50413850:C:T Identity +NM_001318360.2:c.1723C>T NP_001305289.1:p.Arg575Trp NC_000009.12:108900324:G:A p.(Arg575Trp) NC_000009.12:108900324:G:A p.(Arg575Trp) NC_000009.12:108900324:G:A Identity +NM_000527.5:c.327dup NP_000518.1:p.Ser110fs NC_000019.10:11105232:C:CC p.(Ser110LeufsTer20) NC_000019.10:11105232:C:CC p.(Ser110LeufsTer20) ERR:SPDI Analogous +NM_000038.6:c.721G>A NP_000029.2:p.Glu241Lys NC_000005.10:112792520:G:A p.(Glu241Lys) NC_000005.10:112792520:G:A p.(Glu241Lys) NC_000005.10:112792520:G:A Identity +NM_000038.6:c.4669A>G NP_000029.2:p.Ile1557Val NC_000005.10:112840262:A:G p.(Ile1557Val) NC_000005.10:112840262:A:G p.(Ile1557Val) NC_000005.10:112840262:A:G Identity +NM_000527.5:c.478T>C NP_000518.1:p.Cys160Arg NC_000019.10:11105383:T:C p.(Cys160Arg) NC_000019.10:11105383:T:C p.(Cys160Arg) NC_000019.10:11105383:T:C Identity +NM_000527.5:c.544C>T NP_000518.1:p.Gln182Ter NC_000019.10:11105449:C:T p.(Gln182Ter) NC_000019.10:11105449:C:T p.(Gln182Ter) NC_000019.10:11105449:C:T Identity +NM_000527.5:c.629T>A NP_000518.1:p.Ile210Asn NC_000019.10:11105534:T:A p.(Ile210Asn) NC_000019.10:11105534:T:A p.(Ile210Asn) NC_000019.10:11105534:T:A Identity +NM_000527.5:c.661G>T NP_000518.1:p.Asp221Tyr NC_000019.10:11105566:G:T p.(Asp221Tyr) NC_000019.10:11105566:G:T p.(Asp221Tyr) NC_000019.10:11105566:G:T Identity +NM_000527.5:c.671A>G NP_000518.1:p.Asp224Gly NC_000019.10:11105576:A:G p.(Asp224Gly) NC_000019.10:11105576:A:G p.(Asp224Gly) NC_000019.10:11105576:A:G Identity +NM_001377260.1:c.380G>C NP_001364189.1:p.Cys127Ser NC_000001.11:231421508:C:G p.(Cys127Ser) NC_000001.11:231421508:C:G p.(Cys127Ser) NC_000001.11:231421508:C:G Identity +NM_000202.8:c.1466G>C NP_000193.1:p.Gly489Ala NC_000023.11:149482932:C:G p.(Gly489Ala) NC_000023.11:149482932:C:G p.(Gly489Ala) NC_000023.11:149482932:C:G Identity +NM_000527.5:c.1034dup NP_000518.1:p.Leu346fs NC_000019.10:11110744:A:AA p.(Leu346AlafsTer12) NC_000019.10:11110744:A:AA p.(Leu346AlafsTer12) ERR:SPDI Analogous +NM_000527.5:c.1061A>T NP_000518.1:p.Asp354Val NC_000019.10:11111513:A:T p.(Asp354Val) NC_000019.10:11111513:A:T p.(Asp354Val) NC_000019.10:11111513:A:T Identity +NM_024675.4:c.1714del NP_078951.2:p.Ser572fs NC_000016.10:23630439:AA:A p.(Ser572ProfsTer27) NC_000016.10:23630439:AA:A p.(Ser572ProfsTer27) NC_000016.10:23630439:A: Analogous +NM_000339.3:c.2612G>A NP_000330.3:p.Arg871His NC_000016.10:56894593:G:A p.(Arg871His) NC_000016.10:56894593:G:A p.(Arg871His) NC_000016.10:56894593:G:A Identity +NM_000527.5:c.1182del NP_000518.1:p.Val395fs NC_000019.10:11111634:T: p.(Val395TrpfsTer18) NC_000019.10:11111634:T: p.(Val395TrpfsTer18) NC_000019.10:11111634:T: Analogous +NM_000527.5:c.1208del NP_000518.1:p.Phe403fs NC_000019.10:11113297:TT:T p.(Phe403SerfsTer10) NC_000019.10:11113297:TT:T p.(Phe403SerfsTer10) NC_000019.10:11113298:T: Analogous +NM_000527.5:c.1686G>A NP_000518.1:p.Trp562Ter NC_000019.10:11116192:G:A p.(Trp562Ter) NC_000019.10:11116192:G:A p.(Trp562Ter) NC_000019.10:11116192:G:A Identity +NM_000075.4:c.898G>A NP_000066.1:p.Gly300Ser NC_000012.12:57748538:C:T p.(Gly300Ser) NC_000012.12:57748538:C:T p.(Gly300Ser) NC_000012.12:57748538:C:T Identity +NM_000546.6:c.490A>G NP_000537.3:p.Lys164Glu NC_000017.11:7675121:T:C p.(Lys164Glu) NC_000017.11:7675121:T:C p.(Lys164Glu) NC_000017.11:7675121:T:C Identity +NM_001363725.2:c.17_19delinsTCCGCAGCCACTCC NP_001350654.1:p.Pro6fs NC_000006.12:157110495:CCG:TCCGCAGCCACTCC p.(Pro6LeufsTer17) NC_000006.12:157110495:CCG:TCCGCAGCCACTCC p.(Pro6LeufsTer17) NC_000006.12:157110495:CCG:TCCGCAGCCACTCC Analogous +NM_000465.4:c.161C>G NP_000456.2:p.Thr54Ser NC_000002.12:214797114:G:C p.(Thr54Ser) NC_000002.12:214797114:G:C p.(Thr54Ser) NC_000002.12:214797114:G:C Identity +NM_001376.5:c.12071C>T NP_001367.2:p.Pro4024Leu NC_000014.9:102041702:C:T p.(Pro4024Leu) NC_000014.9:102041702:C:T p.(Pro4024Leu) NC_000014.9:102041702:C:T Identity +NM_001253815.2:c.376T>G NP_001240744.1:p.Cys126Gly NC_000008.11:144359867:T:G p.(Cys126Gly) NC_000008.11:144359867:T:G p.(Cys126Gly) NC_000008.11:144359867:T:G Identity +NM_000527.5:c.28T>C NP_000518.1:p.Trp10Arg NC_000019.10:11089575:T:C p.(Trp10Arg) NC_000019.10:11089575:T:C p.(Trp10Arg) NC_000019.10:11089575:T:C Identity +NM_000527.5:c.41dup NP_000518.1:p.Leu14fs NC_000019.10:11089587:TT:TTT p.(Leu14PhefsTer38) NC_000019.10:11089587:TT:TTT p.(Leu14PhefsTer38) ERR:SPDI Analogous +NM_000527.5:c.2041T>G NP_000518.1:p.Cys681Gly NC_000019.10:11120422:T:G p.(Cys681Gly) NC_000019.10:11120422:T:G p.(Cys681Gly) NC_000019.10:11120422:T:G Identity +NM_000527.5:c.2053C>T NP_000518.1:p.Pro685Ser NC_000019.10:11120434:C:T p.(Pro685Ser) NC_000019.10:11120434:C:T p.(Pro685Ser) NC_000019.10:11120434:C:T Identity +NM_001365536.1:c.1022A>G NP_001352465.1:p.Tyr341Cys NC_000002.12:166293315:T:C p.(Tyr341Cys) NC_000002.12:166293315:T:C p.(Tyr341Cys) NC_000002.12:166293315:T:C Identity +NM_000527.5:c.126C>A NP_000518.1:p.Tyr42Ter NC_000019.10:11100280:C:A p.(Tyr42Ter) NC_000019.10:11100280:C:A p.(Tyr42Ter) NC_000019.10:11100280:C:A Identity +NM_000527.5:c.343C>T NP_000518.1:p.Arg115Cys NC_000019.10:11105248:C:T p.(Arg115Cys) NC_000019.10:11105248:C:T p.(Arg115Cys) NC_000019.10:11105248:C:T Identity +NM_000527.5:c.472del NP_000518.1:p.Ser158fs NC_000019.10:11105377:T: p.(Ser158ProfsTer48) NC_000019.10:11105377:T: p.(Ser158ProfsTer48) NC_000019.10:11105377:T: Analogous +NM_000732.6:c.62C>A NP_000723.1:p.Pro21His NC_000011.10:118340586:G:T p.(Pro21His) NC_000011.10:118340586:G:T p.(Pro21His) NC_000011.10:118340586:G:T Identity +NM_001039141.3:c.2582G>A NP_001034230.1:p.Arg861Gln NC_000022.11:37725137:G:A p.(Arg861Gln) NC_000022.11:37725137:G:A p.(Arg861Gln) NC_000022.11:37725137:G:A Identity +NM_000074.3:c.384T>A NP_000065.1:p.Ser128Arg NC_000023.11:136656392:T:A p.(Ser128Arg) NC_000023.11:136656392:T:A p.(Ser128Arg) NC_000023.11:136656392:T:A Identity +NM_001354903.2:c.1245G>C NP_001341832.1:p.Lys415Asn NC_000005.10:112827246:G:C p.(Lys415Asn) NC_000005.10:112827246:G:C p.(Lys415Asn) NC_000005.10:112827246:G:C Identity +NM_001256849.1:c.2178G>C NP_001243778.1:p.Gln726His NC_000019.10:50413448:G:C p.(Gln726His) NC_000019.10:50413448:G:C p.(Gln726His) NC_000019.10:50413448:G:C Identity +NM_000527.5:c.683A>C NP_000518.1:p.Glu228Ala NC_000019.10:11105588:A:C p.(Glu228Ala) NC_000019.10:11105588:A:C p.(Glu228Ala) NC_000019.10:11105588:A:C Identity +NM_000527.5:c.691T>C NP_000518.1:p.Cys231Arg NC_000019.10:11105596:T:C p.(Cys231Arg) NC_000019.10:11105596:T:C p.(Cys231Arg) NC_000019.10:11105596:T:C Identity +NM_000527.5:c.825_826del NP_000518.1:p.Cys276fs NC_000019.10:11107396:CTCT:CT p.(Cys276ArgfsTer24) NC_000019.10:11107396:CTCT:CT p.(Cys276ArgfsTer24) NC_000019.10:11107398:CT: Analogous +NM_000527.5:c.901G>T NP_000518.1:p.Asp301Tyr NC_000019.10:11107474:G:T p.(Asp301Tyr) NC_000019.10:11107474:G:T p.(Asp301Tyr) NC_000019.10:11107474:G:T Identity +NM_001243.5:c.1043C>T NP_001234.3:p.Thr348Ile NC_000001.11:12123716:C:T p.(Thr348Ile) NC_000001.11:12123716:C:T p.(Thr348Ile) NC_000001.11:12123716:C:T Identity +NM_001271.4:c.5033G>A NP_001262.3:p.Arg1678Gln NC_000015.10:93020137:G:A p.(Arg1678Gln) NC_000015.10:93020137:G:A p.(Arg1678Gln) NC_000015.10:93020137:G:A Identity +NM_001184728.3:c.899G>A NP_001171657.1:p.Arg300Gln NC_000020.11:45421415:G:A p.(Arg300Gln) NC_000020.11:45421415:G:A p.(Arg300Gln) NC_000020.11:45421415:G:A Identity +NM_001283056.2:c.544C>T NP_001269985.1:p.Gln182Ter NC_000014.9:57480702:G:A p.(Gln182Ter) NC_000014.9:57480702:G:A p.(Gln182Ter) NC_000014.9:57480702:G:A Identity +NM_001305424.2:c.1481C>G NP_001292353.1:p.Pro494Arg NC_000001.11:240093589:C:G p.(Pro494Arg) NC_000001.11:240093589:C:G p.(Pro494Arg) NC_000001.11:240093589:C:G Identity +NM_001290253.2:c.227A>T NP_001277182.1:p.Asp76Val NC_000007.14:154053046:A:T p.(Asp76Val) NC_000007.14:154053046:A:T p.(Asp76Val) NC_000007.14:154053046:A:T Identity +NM_001318360.2:c.18C>G NP_001305289.1:p.Asp6Glu NC_000009.12:108927396:G:C p.(Asp6Glu) NC_000009.12:108927396:G:C p.(Asp6Glu) NC_000009.12:108927396:G:C Identity +NM_000051.4:c.1438T>G NP_000042.3:p.Leu480Val NC_000011.10:108250902:T:G p.(Leu480Val) NC_000011.10:108250902:T:G p.(Leu480Val) NC_000011.10:108250902:T:G Identity +NM_001130846.4:c.371G>T NP_001124318.2:p.Arg124Ile NC_000023.11:130133372:C:A p.(Arg124Ile) NC_000023.11:130133372:C:A p.(Arg124Ile) NC_000023.11:130133372:C:A Identity +NM_001039550.2:c.310del NP_001034639.1:p.Arg104fs NC_000002.12:219282017:CC:C p.(Arg104GlyfsTer97) NC_000002.12:219282017:CC:C p.(Arg104GlyfsTer97) NC_000002.12:219282018:C: Analogous +NM_002677.5:c.128T>A NP_002668.1:p.Ile43Asn NC_000008.11:81444934:A:T p.(Ile43Asn) NC_000008.11:81444934:A:T p.(Ile43Asn) NC_000008.11:81444934:A:T Identity +NM_002506.3:c.247C>T NP_002497.2:p.Arg83Cys NC_000001.11:115286548:G:A p.(Arg83Cys) NC_000001.11:115286548:G:A p.(Arg83Cys) NC_000001.11:115286548:G:A Identity +NM_001257374.3:c.74T>C NP_001244303.1:p.Leu25Pro NC_000001.11:156130669:T:C p.(Leu25Pro) NC_000001.11:156130669:T:C p.(Leu25Pro) NC_000001.11:156130669:T:C Identity +NM_024577.4:c.1000A>G NP_078853.2:p.Met334Val NC_000005.10:149038295:T:C p.(Met334Val) NC_000005.10:149038295:T:C p.(Met334Val) NC_000005.10:149038295:T:C Identity +NM_000527.5:c.240C>A NP_000518.1:p.Asn80Lys NC_000019.10:11102712:C:A p.(Asn80Lys) NC_000019.10:11102712:C:A p.(Asn80Lys) NC_000019.10:11102712:C:A Identity +NM_000527.5:c.397dup NP_000518.1:p.Asp133fs NC_000019.10:11105300:GGG:GGGG p.(Asp133GlyfsTer47) NC_000019.10:11105300:GGG:GGGG p.(Asp133GlyfsTer47) ERR:SPDI Analogous +NM_001166292.2:c.2018G>T NP_001159764.1:p.Arg673Leu NC_000001.11:44827882:C:A p.(Arg673Leu) NC_000001.11:44827882:C:A p.(Arg673Leu) NC_000001.11:44827882:C:A Identity +NM_000527.5:c.1516G>A NP_000518.1:p.Val506Met NC_000019.10:11113691:G:A p.(Val506Met) NC_000019.10:11113691:G:A p.(Val506Met) NC_000019.10:11113691:G:A Identity +NM_000527.5:c.1705G>T NP_000518.1:p.Asp569Tyr NC_000019.10:11116211:G:T p.(Asp569Tyr) NC_000019.10:11116211:G:T p.(Asp569Tyr) NC_000019.10:11116211:G:T Identity +NM_000814.6:c.913G>A NP_000805.1:p.Ala305Thr NC_000015.10:26561098:C:T p.(Ala305Thr) NC_000015.10:26561098:C:T p.(Ala305Thr) NC_000015.10:26561098:C:T Identity +NM_001195573.1:c.4309_4312del NP_001182502.1:p.Asp1437fs NC_000014.9:95096607:AGTCAG:AG p.(Asp1437MetfsTer16) NC_000014.9:95096607:AGTCAG:AG p.(Asp1437MetfsTer16) NC_000014.9:95096607:AGTC: Analogous +NM_001243249.2:c.1300_1301dup NP_001230178.1:p.Ser435fs NC_000016.10:88865:GTG:GTGTG p.(Ser435ProfsTer20) NC_000016.10:88865:GTG:GTGTG p.(Ser435ProfsTer20) ERR:SPDI Analogous +NM_001407571.1:c.180C>G NP_001394500.1:p.Tyr60Ter NC_000017.11:43104172:G:C p.(Tyr60Ter) NC_000017.11:43104172:G:C p.(Tyr60Ter) NC_000017.11:43104172:G:C Identity +NM_001407571.1:c.643G>T NP_001394500.1:p.Glu215Ter NC_000017.11:43094674:C:A p.(Glu215Ter) NC_000017.11:43094674:C:A p.(Glu215Ter) NC_000017.11:43094674:C:A Identity +NM_001407904.1:c.3331del NP_001394833.1:p.Val1111fs NC_000017.11:43091989:C: p.(Val1111SerfsTer29) NC_000017.11:43091989:C: p.(Val1111SerfsTer29) NC_000017.11:43091989:C: Analogous +NM_001407571.1:c.3557_3564del NP_001394500.1:p.Glu1186fs NC_000017.11:43091753:ATTCTCCT: p.(Glu1186ValfsTer7) NC_000017.11:43091753:ATTCTCCT: p.(Glu1186ValfsTer7) NC_000017.11:43091753:ATTCTCCT: Analogous +NM_000527.5:c.611G>C NP_000518.1:p.Cys204Ser NC_000019.10:11105516:G:C p.(Cys204Ser) NC_000019.10:11105516:G:C p.(Cys204Ser) NC_000019.10:11105516:G:C Identity +NM_000527.5:c.718G>T NP_000518.1:p.Glu240Ter NC_000019.10:11106587:G:T p.(Glu240Ter) NC_000019.10:11106587:G:T p.(Glu240Ter) NC_000019.10:11106587:G:T Identity +NM_000527.5:c.915G>A NP_000518.1:p.Trp305Ter NC_000019.10:11107488:G:A p.(Trp305Ter) NC_000019.10:11107488:G:A p.(Trp305Ter) NC_000019.10:11107488:G:A Identity +NM_000051.4:c.4631A>G NP_000042.3:p.Tyr1544Cys NC_000011.10:108293331:A:G p.(Tyr1544Cys) NC_000011.10:108293331:A:G p.(Tyr1544Cys) NC_000011.10:108293331:A:G Identity +NM_001127713.1:c.416A>G NP_001121185.1:p.Lys139Arg NC_000014.9:50591073:A:G p.(Lys139Arg) NC_000014.9:50591073:A:G p.(Lys139Arg) NC_000014.9:50591073:A:G Identity +NM_001386339.1:c.766C>A NP_001373268.1:p.Pro256Thr NC_000011.10:10001008:G:T p.(Pro256Thr) NC_000011.10:10001008:G:T p.(Pro256Thr) NC_000011.10:10001008:G:T Identity +NM_000069.3:c.383C>G NP_000060.2:p.Thr128Ser NC_000001.11:201093896:G:C p.(Thr128Ser) NC_000001.11:201093896:G:C p.(Thr128Ser) NC_000001.11:201093896:G:C Identity +NM_000527.5:c.1186G>A NP_000518.1:p.Gly396Ser NC_000019.10:11111638:G:A p.(Gly396Ser) NC_000019.10:11111638:G:A p.(Gly396Ser) NC_000019.10:11111638:G:A Identity +NM_000527.5:c.1424C>T NP_000518.1:p.Ala475Val NC_000019.10:11113599:C:T p.(Ala475Val) NC_000019.10:11113599:C:T p.(Ala475Val) NC_000019.10:11113599:C:T Identity +NM_000527.5:c.1916T>G NP_000518.1:p.Val639Gly NC_000019.10:11120161:T:G p.(Val639Gly) NC_000019.10:11120161:T:G p.(Val639Gly) NC_000019.10:11120161:T:G Identity +NM_000527.5:c.2385del NP_000518.1:p.Ile796fs NC_000019.10:11128077:CCCC:CCC p.(Ile796SerfsTer133) NC_000019.10:11128077:CCCC:CCC p.(Ile796SerfsTer133) NC_000019.10:11128080:C: Analogous +NM_000527.5:c.1577C>G NP_000518.1:p.Pro526Arg NC_000019.10:11113752:C:G p.(Pro526Arg) NC_000019.10:11113752:C:G p.(Pro526Arg) NC_000019.10:11113752:C:G Identity +NM_000296.4:c.3275T>C NP_000287.4:p.Met1092Thr NC_000016.10:2112359:A:G p.(Met1092Thr) NC_000016.10:2112359:A:G p.(Met1092Thr) NC_000016.10:2112359:A:G Identity +NM_007294.4:c.4976del NP_009225.1:p.Pro1659fs NC_000017.11:43070937:GGGG:GGG p.(Pro1659GlnfsTer18) NC_000017.11:43070937:GGGG:GGG p.(Pro1659GlnfsTer18) NC_000017.11:43070937:G: Analogous +NM_000384.3:c.4027C>T NP_000375.3:p.Pro1343Ser NC_000002.12:21013348:G:A p.(Pro1343Ser) NC_000002.12:21013348:G:A p.(Pro1343Ser) NC_000002.12:21013348:G:A Identity +NM_001040113.2:c.1934C>T NP_001035202.1:p.Ser645Leu NC_000016.10:15750282:G:A p.(Ser645Leu) NC_000016.10:15750282:G:A p.(Ser645Leu) NC_000016.10:15750282:G:A Identity +NM_000527.5:c.1946dup NP_000518.1:p.Glu650fs NC_000019.10:11120188:CCCC:CCCCC p.(Glu650ArgfsTer19) NC_000019.10:11120188:CCCC:CCCCC p.(Glu650ArgfsTer19) ERR:SPDI Analogous +NM_024675.4:c.3436C>A NP_078951.2:p.Gln1146Lys NC_000016.10:23603583:G:T p.(Gln1146Lys) NC_000016.10:23603583:G:T p.(Gln1146Lys) NC_000016.10:23603583:G:T Identity +NM_001271900.2:c.91del NP_001258829.1:p.Leu31fs NC_000005.10:146878154:GGGGGG:GGGGG p.(Leu31SerfsTer24) NC_000005.10:146878154:GGGGGG:GGGGG p.(Leu31SerfsTer24) NC_000005.10:146878154:G: Analogous +NM_004076.5:c.314G>A NP_004067.1:p.Arg105Gln NC_000022.11:25203881:G:A p.(Arg105Gln) NC_000022.11:25203881:G:A p.(Arg105Gln) NC_000022.11:25203881:G:A Identity +NM_005208.5:c.74C>T NP_005199.2:p.Pro25Leu NC_000017.11:29249183:C:T p.(Pro25Leu) NC_000017.11:29249183:C:T p.(Pro25Leu) NC_000017.11:29249183:C:T Identity +NM_001256468.2:c.3100G>T NP_001243397.1:p.Ala1034Ser NC_000010.11:75025233:G:T p.(Ala1034Ser) NC_000010.11:75025233:G:T p.(Ala1034Ser) NC_000010.11:75025233:G:T Identity +NM_001352500.2:c.930G>T NP_001339429.1:p.Trp310Cys NC_000013.11:49549572:C:A p.(Trp310Cys) NC_000013.11:49549572:C:A p.(Trp310Cys) NC_000013.11:49549572:C:A Identity +NM_001278192.2:c.2173C>T NP_001265121.1:p.Arg725Trp NC_000011.10:62626632:G:A p.(Arg725Trp) NC_000011.10:62626632:G:A p.(Arg725Trp) NC_000011.10:62626632:G:A Identity +NM_001193307.2:c.2305G>A NP_001180236.1:p.Asp769Asn NC_000007.14:93103792:C:T p.(Asp769Asn) NC_000007.14:93103792:C:T p.(Asp769Asn) NC_000007.14:93103792:C:T Identity +NM_020376.4:c.1442T>C NP_065109.1:p.Leu481Pro NC_000011.10:824788:T:C p.(Leu481Pro) NC_000011.10:824788:T:C p.(Leu481Pro) NC_000011.10:824788:T:C Identity +NM_001407571.1:c.415C>T NP_001394500.1:p.Gln139Ter NC_000017.11:43095887:G:A p.(Gln139Ter) NC_000017.11:43095887:G:A p.(Gln139Ter) NC_000017.11:43095887:G:A Identity +NM_012064.4:c.631G>T NP_036196.1:p.Gly211Ter NC_000012.12:56451440:C:A p.(Gly211Ter) NC_000012.12:56451440:C:A p.(Gly211Ter) NC_000012.12:56451440:C:A Identity +LRG_292t1:c.1036del LRG_292p1:p.Leu347Cysfs NC_000017.11:43094491:GGGG:GGG ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001244008.2:c.5131G>A NP_001230937.1:p.Asp1711Asn NC_000002.12:240719088:C:T p.(Asp1711Asn) NC_000002.12:240719088:C:T p.(Asp1711Asn) NC_000002.12:240719088:C:T Identity +NM_003680.4:c.1543G>A NP_003671.1:p.Gly515Ser NC_000001.11:32776024:C:T p.(Gly515Ser) NC_000001.11:32776024:C:T p.(Gly515Ser) NC_000001.11:32776024:C:T Identity +NM_003640.5:c.80G>A NP_003631.2:p.Arg27Gln NC_000009.12:108931066:C:T p.(Arg27Gln) NC_000009.12:108931066:C:T p.(Arg27Gln) NC_000009.12:108931066:C:T Identity +NM_001271667.2:c.643C>T NP_001258596.1:p.Pro215Ser NC_000006.12:15523144:G:A p.(Pro215Ser) NC_000006.12:15523144:G:A p.(Pro215Ser) NC_000006.12:15523144:G:A Identity +NM_001286957.2:c.76C>A NP_001273886.1:p.His26Asn NC_000012.12:48917003:C:A p.(His26Asn) NC_000012.12:48917003:C:A p.(His26Asn) NC_000012.12:48917003:C:A Identity +NM_001370085.1:c.222C>G NP_001357014.1:p.Ile74Met NC_000020.11:765552:G:C p.(Ile74Met) NC_000020.11:765552:G:C p.(Ile74Met) NC_000020.11:765552:G:C Identity +NM_001042413.2:c.1608C>G NP_001035878.1:p.Cys536Trp NC_000009.12:4117869:G:C p.(Cys536Trp) NC_000009.12:4117869:G:C p.(Cys536Trp) NC_000009.12:4117869:G:C Identity +NM_007255.3:c.641G>A NP_009186.1:p.Cys214Tyr NC_000005.10:177608539:G:A p.(Cys214Tyr) NC_000005.10:177608539:G:A p.(Cys214Tyr) NC_000005.10:177608539:G:A Identity +NM_001318872.2:c.424G>T NP_001305801.1:p.Asp142Tyr NC_000006.12:5368993:G:T p.(Asp142Tyr) NC_000006.12:5368993:G:T p.(Asp142Tyr) NC_000006.12:5368993:G:T Identity +NM_001142466.3:c.910C>T NP_001135938.1:p.Arg304Ter NC_000016.10:46922413:C:T p.(Arg304Ter) NC_000016.10:46922413:C:T p.(Arg304Ter) NC_000016.10:46922413:C:T Identity +NM_003098.3:c.221C>T NP_003089.1:p.Pro74Leu NC_000020.11:33443399:G:A p.(Pro74Leu) NC_000020.11:33443399:G:A p.(Pro74Leu) NC_000020.11:33443399:G:A Identity +NM_001362843.2:c.4876_4879dup NP_001349772.1:p.Cys1627fs NC_000022.11:41176420:ATGT:ATGTATGT p.(Cys1627TyrfsTer21) NC_000022.11:41176420:ATGT:ATGTATGT p.(Cys1627TyrfsTer21) ERR:SPDI Analogous +NM_001350319.2:c.425_426insT NP_001337248.1:p.Lys142fs NC_000017.11:41936500::T p.(Lys142AsnfsTer12) NC_000017.11:41936499:A:T p.(Lys142AsnfsTer12) NC_000017.11:41936500:AA:T Analogous +NM_001139490.1:c.374T>C NP_001132962.1:p.Val125Ala NC_000002.12:238328704:T:C p.(Val125Ala) NC_000002.12:238328704:T:C p.(Val125Ala) NC_000002.12:238328704:T:C Identity +NM_001178098.2:c.156G>C NP_001171569.1:p.Trp52Cys NC_000016.10:28932412:G:C p.(Trp52Cys) NC_000016.10:28932412:G:C p.(Trp52Cys) NC_000016.10:28932412:G:C Identity +NM_001003786.3:c.731dup NP_001003786.1:p.Asp244fs NC_000017.11:63706650:T:TT p.(Asp244GlufsTer28) NC_000017.11:63706650:T:TT p.(Asp244GlufsTer28) ERR:SPDI Analogous +NM_001195573.1:c.3777dup NP_001182502.1:p.Val1260fs NC_000014.9:95103618:GG:GGG p.(Val1260ArgfsTer19) NC_000014.9:95103618:GG:GGG p.(Val1260ArgfsTer19) ERR:SPDI Analogous +NM_000091.5:c.73C>T NP_000082.2:p.Pro25Ser NC_000002.12:227164798:C:T p.(Pro25Ser) NC_000002.12:227164798:C:T p.(Pro25Ser) NC_000002.12:227164798:C:T Identity +NM_001407571.1:c.571C>T NP_001394500.1:p.Gln191Ter NC_000017.11:43094746:G:A p.(Gln191Ter) NC_000017.11:43094746:G:A p.(Gln191Ter) NC_000017.11:43094746:G:A Identity +NM_000059.4:c.2085_2089del NP_000050.3:p.Glu696fs NC_000013.11:32336437:AAGGAAA:AA p.(Glu696ThrfsTer10) NC_000013.11:32336437:AAGGAAA:AA p.(Glu696ThrfsTer10) NC_000013.11:32336439:GGAAA: Analogous +NM_000059.4:c.3957_3960del NP_000050.3:p.Asn1319fs NC_000013.11:32338309:AATGAA:AA p.(Asn1319LysfsTer15) NC_000013.11:32338309:AATGAA:AA p.(Asn1319LysfsTer15) NC_000013.11:32338311:TGAA: Analogous +NM_133378.4:c.9512A>G NP_596869.4:p.Asn3171Ser NC_000002.12:178766571:T:C p.(Asn3171Ser) NC_000002.12:178766571:T:C p.(Asn3171Ser) NC_000002.12:178766571:T:C Identity +NM_000458.4:c.684C>G NP_000449.1:p.Asn228Lys NC_000017.11:37733681:G:C p.(Asn228Lys) NC_000017.11:37733681:G:C p.(Asn228Lys) NC_000017.11:37733681:G:C Identity +NM_001024858.4:c.4121A>G NP_001020029.1:p.His1374Arg NC_000014.9:64782434:T:C p.(His1374Arg) NC_000014.9:64782434:T:C p.(His1374Arg) NC_000014.9:64782434:T:C Identity +NM_001080449.3:c.2430C>G NP_001073918.2:p.Phe810Leu NC_000010.11:68422576:G:C p.(Phe810Leu) NC_000010.11:68422576:G:C p.(Phe810Leu) NC_000010.11:68422576:G:C Identity +NM_001080479.3:c.1754G>A NP_001073948.2:p.Arg585Lys NC_000005.10:73852655:G:A p.(Arg585Lys) NC_000005.10:73852655:G:A p.(Arg585Lys) NC_000005.10:73852655:G:A Identity +NM_001083899.2:c.1206_1209dup NP_001077368.2:p.Pro404fs NC_000019.10:55014735:CAGACAGACAGACAGACA:CAGACAGACAGACAGACAGACA p.(Pro404SerfsTer61) NC_000019.10:55014735:CAGACAGACAGACAGACA:CAGACAGACAGACAGACAGACA p.(Pro404SerfsTer61) ERR:SPDI Analogous +NM_000069.3:c.206C>G NP_000060.2:p.Ala69Gly NC_000001.11:201110215:G:C p.(Ala69Gly) NC_000001.11:201110215:G:C p.(Ala69Gly) NC_000001.11:201110215:G:C Identity +NM_000081.4:c.6482A>C NP_000072.2:p.Glu2161Ala NC_000001.11:235759370:T:G p.(Glu2161Ala) NC_000001.11:235759370:T:G p.(Glu2161Ala) NC_000001.11:235759370:T:G Identity +NM_000119.3:c.1369C>T NP_000110.2:p.Arg457Cys NC_000015.10:43207237:G:A p.(Arg457Cys) NC_000015.10:43207237:G:A p.(Arg457Cys) NC_000015.10:43207237:G:A Identity +NM_000527.5:c.565G>A NP_000518.1:p.Val189Met NC_000019.10:11105470:G:A p.(Val189Met) NC_000019.10:11105470:G:A p.(Val189Met) NC_000019.10:11105470:G:A Identity +NM_000090.4:c.3775G>A NP_000081.2:p.Ala1259Thr NC_000002.12:189009172:G:A p.(Ala1259Thr) NC_000002.12:189009172:G:A p.(Ala1259Thr) NC_000002.12:189009172:G:A Identity +NM_001379277.1:c.2420T>A NP_001366206.1:p.Leu807Gln NC_000007.14:92079907:T:A p.(Leu807Gln) NC_000007.14:92079907:T:A p.(Leu807Gln) NC_000007.14:92079907:T:A Identity +NM_000296.4:c.4546G>A NP_000287.4:p.Ala1516Thr NC_000016.10:2110620:C:T p.(Ala1516Thr) NC_000016.10:2110620:C:T p.(Ala1516Thr) NC_000016.10:2110620:C:T Identity +NM_001378033.1:c.115C>T NP_001364962.1:p.Pro39Ser NC_000016.10:725160:G:A p.(Pro39Ser) NC_000016.10:725160:G:A p.(Pro39Ser) NC_000016.10:725160:G:A Identity +NM_053025.4:c.382G>A NP_444253.3:p.Ala128Thr NC_000003.12:123739992:C:T p.(Ala128Thr) NC_000003.12:123739992:C:T p.(Ala128Thr) NC_000003.12:123739992:C:T Identity +NM_000144.5:c.118C>T NP_000135.2:p.Arg40Cys NC_000009.12:69035899:C:T p.(Arg40Cys) NC_000009.12:69035899:C:T p.(Arg40Cys) NC_000009.12:69035899:C:T Identity +NM_001008844.3:c.3195C>G NP_001008844.1:p.Tyr1065Ter NC_000006.12:7579384:C:G p.(Tyr1065Ter) NC_000006.12:7579384:C:G p.(Tyr1065Ter) NC_000006.12:7579384:C:G Identity +LRG_1122t1:c.1787C>T LRG_1122p1:p.Thr596Met NC_000009.12:136515598:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001164507.2:c.13680G>C NP_001157979.2:p.Gln4560His NC_000002.12:151600549:C:G p.(Gln4560His) NC_000002.12:151600549:C:G p.(Gln4560His) NC_000002.12:151600549:C:G Identity +NM_001164507.2:c.15821A>T NP_001157979.2:p.Asn5274Ile NC_000002.12:151583608:T:A p.(Asn5274Ile) NC_000002.12:151583608:T:A p.(Asn5274Ile) NC_000002.12:151583608:T:A Identity +NM_014845.6:c.808A>G NP_055660.1:p.Thr270Ala NC_000006.12:109741475:A:G p.(Thr270Ala) NC_000006.12:109741475:A:G p.(Thr270Ala) NC_000006.12:109741475:A:G Identity +NM_000527.5:c.906C>G NP_000518.1:p.Cys302Trp NC_000019.10:11107479:C:G p.(Cys302Trp) NC_000019.10:11107479:C:G p.(Cys302Trp) NC_000019.10:11107479:C:G Identity +NM_000527.5:c.1130G>C NP_000518.1:p.Cys377Ser NC_000019.10:11111582:G:C p.(Cys377Ser) NC_000019.10:11111582:G:C p.(Cys377Ser) NC_000019.10:11111582:G:C Identity +NM_003126.4:c.6794T>C NP_003117.2:p.Ile2265Thr NC_000001.11:158614300:A:G p.(Ile2265Thr) NC_000001.11:158614300:A:G p.(Ile2265Thr) NC_000001.11:158614300:A:G Identity +NM_004370.6:c.9172G>A NP_004361.3:p.Gly3058Ser NC_000006.12:75087585:C:T p.(Gly3058Ser) NC_000006.12:75087585:C:T p.(Gly3058Ser) NC_000006.12:75087585:C:T Identity +NM_001164097.2:c.6072C>A NP_001157569.1:p.Asn2024Lys NC_000005.10:83542035:C:A p.(Asn2024Lys) NC_000005.10:83542035:C:A p.(Asn2024Lys) NC_000005.10:83542035:C:A Identity +NM_000037.4:c.3973A>G NP_000028.3:p.Met1325Val NC_000008.11:41690484:T:C p.(Met1325Val) NC_000008.11:41690484:T:C p.(Met1325Val) NC_000008.11:41690484:T:C Identity +NM_021957.4:c.577G>A NP_068776.2:p.Ala193Thr NC_000012.12:21574244:C:T p.(Ala193Thr) NC_000012.12:21574244:C:T p.(Ala193Thr) NC_000012.12:21574244:C:T Identity +NM_001378183.1:c.6530G>C NP_001365112.1:p.Arg2177Thr NC_000018.10:10699088:C:G p.(Arg2177Thr) NC_000018.10:10699088:C:G p.(Arg2177Thr) NC_000018.10:10699088:C:G Identity +LRG_590t1:c.710C>T LRG_590p1:p.Ala237Val NC_000022.11:26465547:G:A ERR:Data provider error: ValueError: Transcript LRG_590t1 not found ERR:Data provider error: ValueError: Transcript LRG_590t1 not found ERR:AlignmentMapper(tx_ac=LRG_590t1, alt_ac=LRG_590t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_590t1, alt_ac=LRG_590t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_590t1 not found +NM_001352253.3:c.2T>C NP_001339182.1:p.Met1Thr NC_000013.11:110706091:A:G p.(Met1Thr) NC_000013.11:110706091:A:G p.Met1? NC_000013.11:110706091:A:G Identity +NM_001363711.2:c.413C>T NP_001350640.1:p.Pro138Leu NC_000015.10:45111867:G:A p.(Pro138Leu) NC_000015.10:45111867:G:A p.(Pro138Leu) NC_000015.10:45111867:G:A Identity +NM_001289164.3:c.689G>A NP_001276093.1:p.Arg230His NC_000002.12:74536119:C:T p.(Arg230His) NC_000002.12:74536119:C:T p.(Arg230His) NC_000002.12:74536119:C:T Identity +NM_001291415.2:c.2482_2485del NP_001278344.1:p.Asp828fs NC_000023.11:45069978:CAGACA:CA p.(Asp828IlefsTer8) NC_000023.11:45069978:CAGACA:CA p.(Asp828IlefsTer8) NC_000023.11:45069980:GACA: Analogous +NM_001134673.4:c.361C>T NP_001128145.1:p.Arg121Cys NC_000001.11:61088481:C:T p.(Arg121Cys) NC_000001.11:61088481:C:T p.(Arg121Cys) NC_000001.11:61088481:C:T Identity +NM_000089.4:c.577G>A NP_000080.2:p.Gly193Ser NC_000007.14:94406285:G:A p.(Gly193Ser) NC_000007.14:94406285:G:A p.(Gly193Ser) NC_000007.14:94406285:G:A Identity +NM_000527.5:c.1597T>C NP_000518.1:p.Trp533Arg NC_000019.10:11116103:T:C p.(Trp533Arg) NC_000019.10:11116103:T:C p.(Trp533Arg) NC_000019.10:11116103:T:C Identity +NM_001243342.2:c.850G>C NP_001230271.1:p.Asp284His NC_000017.11:80048755:G:C p.(Asp284His) NC_000017.11:80048755:G:C p.(Asp284His) NC_000017.11:80048755:G:C Identity +NM_024747.6:c.632G>C NP_079023.2:p.Gly211Ala NC_000010.11:102066105:G:C p.(Gly211Ala) NC_000010.11:102066105:G:C p.(Gly211Ala) NC_000010.11:102066105:G:C Identity +NM_025074.7:c.10696G>A NP_079350.5:p.Val3566Ile NC_000004.12:78522695:G:A p.(Val3566Ile) NC_000004.12:78522695:G:A p.(Val3566Ile) NC_000004.12:78522695:G:A Identity +NM_001377456.1:c.367A>G NP_001364385.1:p.Ile123Val NC_000016.10:56511262:T:C p.(Ile123Val) NC_000016.10:56511262:T:C p.(Ile123Val) NC_000016.10:56511262:T:C Identity +NM_139281.3:c.622A>G NP_644810.2:p.Ile208Val NC_000005.10:111103809:A:G p.(Ile208Val) NC_000005.10:111103809:A:G p.(Ile208Val) NC_000005.10:111103809:A:G Identity +NM_001261427.3:c.1498G>A NP_001248356.1:p.Val500Met NC_000002.12:11787111:G:A p.(Val500Met) NC_000002.12:11787111:G:A p.(Val500Met) NC_000002.12:11787111:G:A Identity +NM_000109.4:c.3235C>T NP_000100.3:p.Gln1079Ter NC_000023.11:32464602:G:A p.(Gln1079Ter) NC_000023.11:32464602:G:A p.(Gln1079Ter) NC_000023.11:32464602:G:A Identity +NM_000540.3:c.14416A>G NP_000531.2:p.Asn4806Asp NC_000019.10:38580032:A:G p.(Asn4806Asp) NC_000019.10:38580032:A:G p.(Asn4806Asp) NC_000019.10:38580032:A:G Identity +NM_001165963.4:c.3857G>A NP_001159435.1:p.Trp1286Ter NC_000002.12:166012130:C:T p.(Trp1286Ter) NC_000002.12:166012130:C:T p.(Trp1286Ter) NC_000002.12:166012130:C:T Identity +NM_000138.5:c.4331G>A NP_000129.3:p.Cys1444Tyr NC_000015.10:48472555:C:T p.(Cys1444Tyr) NC_000015.10:48472555:C:T p.(Cys1444Tyr) NC_000015.10:48472555:C:T Identity +NM_000527.5:c.2001T>G NP_000518.1:p.Cys667Trp NC_000019.10:11120382:T:G p.(Cys667Trp) NC_000019.10:11120382:T:G p.(Cys667Trp) NC_000019.10:11120382:T:G Identity +NM_001145102.2:c.839G>C NP_001138574.1:p.Arg280Thr NC_000015.10:67187508:G:C p.(Arg280Thr) NC_000015.10:67187508:G:C p.(Arg280Thr) NC_000015.10:67187508:G:C Identity +NM_000138.5:c.3197G>C NP_000129.3:p.Arg1066Thr NC_000015.10:48488378:C:G p.(Arg1066Thr) NC_000015.10:48488378:C:G p.(Arg1066Thr) NC_000015.10:48488378:C:G Identity +NM_003280.3:c.184G>A NP_003271.1:p.Asp62Asn NC_000003.12:52452123:C:T p.(Asp62Asn) NC_000003.12:52452123:C:T p.(Asp62Asn) NC_000003.12:52452123:C:T Identity +NM_005751.5:c.4360G>A NP_005742.4:p.Ala1454Thr NC_000007.14:92038439:G:A p.(Ala1454Thr) NC_000007.14:92038439:G:A p.(Ala1454Thr) NC_000007.14:92038439:G:A Identity +NM_000258.3:c.400G>A NP_000249.1:p.Val134Met NC_000003.12:46859555:C:T p.(Val134Met) NC_000003.12:46859555:C:T p.(Val134Met) NC_000003.12:46859555:C:T Identity +NM_000527.5:c.2416del NP_000518.1:p.Val806fs NC_000019.10:11129534:GGGGG:GGGG p.(Val806SerfsTer123) NC_000019.10:11129534:GGGGG:GGGG p.(Val806SerfsTer123) NC_000019.10:11129538:G: Analogous +NM_000527.5:c.2482T>C NP_000518.1:p.Tyr828His NC_000019.10:11129604:T:C p.(Tyr828His) NC_000019.10:11129604:T:C p.(Tyr828His) NC_000019.10:11129604:T:C Identity +NM_000109.4:c.1358A>G NP_000100.3:p.Asn453Ser NC_000023.11:32614402:T:C p.(Asn453Ser) NC_000023.11:32614402:T:C p.(Asn453Ser) NC_000023.11:32614402:T:C Identity +NM_000218.3:c.564G>A NP_000209.2:p.Trp188Ter NC_000011.10:2570713:G:A p.(Trp188Ter) NC_000011.10:2570713:G:A p.(Trp188Ter) NC_000011.10:2570713:G:A Identity +NM_001008844.3:c.6391del NP_001008844.1:p.Gln2131fs NC_000006.12:7585448:CC:C p.(Gln2131SerfsTer16) NC_000006.12:7585448:CC:C p.(Gln2131SerfsTer16) NC_000006.12:7585449:C: Analogous +NM_001407958.1:c.35delT NP_001394887.1:p.Val13Leufs NC_000017.11:43104922:AA:A p.(Val13LeufsTer5) NC_000017.11:43104922:AA:A p.(Val13LeufsTer5) NC_000017.11:43104923:A: Analogous +NM_001141945.3:c.767G>A NP_001135417.1:p.Arg256His NC_000010.11:88939547:C:T p.(Arg256His) NC_000010.11:88939547:C:T p.(Arg256His) NC_000010.11:88939547:C:T Identity +NM_000302.4:c.95C>T NP_000293.2:p.Thr32Met NC_000001.11:11947993:C:T p.(Thr32Met) NC_000001.11:11947993:C:T p.(Thr32Met) NC_000001.11:11947993:C:T Identity +NM_001256850.1:c.74938A>G NP_001243779.1:p.Thr24980Ala NC_000002.12:178566270:T:C p.(Thr24980Ala) NC_000002.12:178566270:T:C p.(Thr24980Ala) NC_000002.12:178566270:T:C Identity +NM_002471.4:c.2597A>G NP_002462.2:p.Glu866Gly NC_000014.9:23394155:T:C p.(Glu866Gly) NC_000014.9:23394155:T:C p.(Glu866Gly) NC_000014.9:23394155:T:C Identity +LRG_602t3:c.3899A>C LRG_602p3:p.Asp1300Ala NC_000013.11:35161786:A:C ERR:Data provider error: ValueError: Transcript LRG_602t3 not found ERR:Data provider error: ValueError: Transcript LRG_602t3 not found ERR:AlignmentMapper(tx_ac=LRG_602t3, alt_ac=LRG_602t3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_602t3, alt_ac=LRG_602t3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_602t3 not found +LRG_1233t1:c.97C>T LRG_1233p1:p.His33Tyr NC_000015.10:41096213:G:A ERR:Data provider error: ValueError: Transcript LRG_1233t1 not found ERR:Data provider error: ValueError: Transcript LRG_1233t1 not found ERR:AlignmentMapper(tx_ac=LRG_1233t1, alt_ac=LRG_1233t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1233t1, alt_ac=LRG_1233t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1233t1 not found +NM_001278531.2:c.1246G>A NP_001265460.1:p.Val416Ile NC_000006.12:169773330:G:A p.(Val416Ile) NC_000006.12:169773330:G:A p.(Val416Ile) NC_000006.12:169773330:G:A Identity +NM_001407898.1:c.4486_4495delGGAATCAGCC NP_001394827.1:p.Gly1496Serfs NC_000017.11:43071205:GGCTGATTCC: p.(Gly1496SerfsTer31) NC_000017.11:43071205:GGCTGATTCC: p.(Gly1496SerfsTer31) NC_000017.11:43071205:GGCTGATTCC: Analogous +NM_173076.3:c.179G>C NP_775099.2:p.Arg60Pro NC_000002.12:215064203:C:G p.(Arg60Pro) NC_000002.12:215064203:C:G p.(Arg60Pro) NC_000002.12:215064203:C:G Identity +NM_000094.4:c.8440C>T NP_000085.1:p.Arg2814Ter NC_000003.12:48565635:G:A p.(Arg2814Ter) NC_000003.12:48565635:G:A p.(Arg2814Ter) NC_000003.12:48565635:G:A Identity +NM_000143.4:c.1144A>G NP_000134.2:p.Met382Val NC_000001.11:241502534:T:C p.(Met382Val) NC_000001.11:241502534:T:C p.(Met382Val) NC_000001.11:241502534:T:C Identity +NM_000612.6:c.78C>G NP_000603.1:p.Tyr26Ter NC_000011.10:2135445:G:C p.(Tyr26Ter) NC_000011.10:2135445:G:C p.(Tyr26Ter) NC_000011.10:2135445:G:C Identity +NM_001318859.2:c.515T>G NP_001305788.1:p.Leu172Arg NC_000002.12:73958234:T:G p.(Leu172Arg) NC_000002.12:73958234:T:G p.(Leu172Arg) NC_000002.12:73958234:T:G Identity +NM_000059.4:c.1433_1434del NP_000050.3:p.Thr478fs NC_000013.11:32332909:ACA:A p.(Thr478ArgfsTer35) NC_000013.11:32332909:ACA:A p.(Thr478ArgfsTer35) NC_000013.11:32332910:CA: Analogous +NM_000059.4:c.3248del NP_000050.3:p.Asn1083fs NC_000013.11:32337598:AAAAA:AAAA p.(Asn1083IlefsTer4) NC_000013.11:32337598:AAAAA:AAAA p.(Asn1083IlefsTer4) NC_000013.11:32337602:A: Analogous +NM_000051.4:c.4683_4689del NP_000042.3:p.Asp1563fs NC_000011.10:108293382:TTTTAGAT:T p.(Asp1563PhefsTer36) NC_000011.10:108293382:TTTTAGAT:T p.(Asp1563PhefsTer36) NC_000011.10:108293383:TTTAGAT: Analogous +NM_000335.5:c.5353_5354del NP_000326.2:p.Leu1785fs NC_000003.12:38551014:AG: p.(Leu1785GlufsTer2) NC_000003.12:38551014:AG: p.(Leu1785GlufsTer2) NC_000003.12:38551014:AG: Analogous +NM_000059.4:c.7425del NP_000050.3:p.Glu2476fs NC_000013.11:32355276:AA:A p.(Glu2476AsnfsTer3) NC_000013.11:32355276:AA:A p.(Glu2476AsnfsTer3) NC_000013.11:32355277:A: Analogous +NM_000059.4:c.7933A>T NP_000050.3:p.Arg2645Ter NC_000013.11:32362649:A:T p.(Arg2645Ter) NC_000013.11:32362649:A:T p.(Arg2645Ter) NC_000013.11:32362649:A:T Identity +NM_002471.4:c.5767C>T NP_002462.2:p.Arg1923Ter NC_000014.9:23382456:G:A p.(Arg1923Ter) NC_000014.9:23382456:G:A p.(Arg1923Ter) NC_000014.9:23382456:G:A Identity +NM_000388.4:c.1913G>T NP_000379.3:p.Arg638Leu NC_000003.12:122283866:G:T p.(Arg638Leu) NC_000003.12:122283866:G:T p.(Arg638Leu) NC_000003.12:122283866:G:T Identity +NM_000444.6:c.1204C>T NP_000435.3:p.Gln402Ter NC_000023.11:22114487:C:T p.(Gln402Ter) NC_000023.11:22114487:C:T p.(Gln402Ter) NC_000023.11:22114487:C:T Identity +NM_001407571.1:c.3484A>T NP_001394500.1:p.Lys1162Ter NC_000017.11:43091833:T:A p.(Lys1162Ter) NC_000017.11:43091833:T:A p.(Lys1162Ter) NC_000017.11:43091833:T:A Identity +NM_001408424.1:c.1838_1844delAGGACAG NP_001395353.1:p.Asp614Argfs NC_000017.11:43057054:TCTGTCCT:T p.(Asp614ArgfsTer6) NC_000017.11:43057054:TCTGTCCT:T p.(Asp614ArgfsTer6) NC_000017.11:43057055:CTGTCCT: Analogous +NM_001173466.2:c.967_968del NP_001166937.1:p.Leu323fs NC_000012.12:53308744:AG: p.(Leu323ValfsTer8) NC_000012.12:53308744:AG: p.(Leu323ValfsTer8) NC_000012.12:53308744:AG: Analogous +NM_000350.3:c.664del NP_000341.2:p.Ala222fs NC_000001.11:94098897:CCCC:CCC p.(Ala222GlnfsTer19) NC_000001.11:94098897:CCCC:CCC p.(Ala222GlnfsTer19) NC_000001.11:94098897:C: Analogous +NM_000059.4:c.8238_8241del NP_000050.3:p.Gly2748fs NC_000013.11:32363439:AGTT: p.(Gly2748ArgfsTer28) NC_000013.11:32363439:AGTT: p.(Gly2748ArgfsTer28) NC_000013.11:32363439:AGTT: Analogous +NM_000059.4:c.9063_9064dup NP_000050.3:p.Arg3022fs NC_000013.11:32379857:AAA:AAAAA p.(Arg3022LysfsTer7) NC_000013.11:32379857:AAA:AAAAA p.(Arg3022LysfsTer7) ERR:SPDI Analogous +NM_000059.4:c.9846dup NP_000050.3:p.Val3283fs NC_000013.11:32398358:T:TT p.(Val3283CysfsTer2) NC_000013.11:32398358:T:TT p.(Val3283CysfsTer2) ERR:SPDI Analogous +NM_144773.4:c.97T>C NP_658986.1:p.Tyr33His NC_000020.11:5314272:A:G p.(Tyr33His) NC_000020.11:5314272:A:G p.(Tyr33His) NC_000020.11:5314272:A:G Identity +NM_001065.4:c.463C>T NP_001056.1:p.His155Tyr NC_000012.12:6333375:G:A p.(His155Tyr) NC_000012.12:6333375:G:A p.(His155Tyr) NC_000012.12:6333375:G:A Identity +NM_017780.4:c.3623T>A NP_060250.2:p.Val1208Asp NC_000008.11:60830421:T:A p.(Val1208Asp) NC_000008.11:60830421:T:A p.(Val1208Asp) NC_000008.11:60830421:T:A Identity +NM_001378183.1:c.2783C>G NP_001365112.1:p.Ser928Ter NC_000018.10:10773413:G:C p.(Ser928Ter) NC_000018.10:10773413:G:C p.(Ser928Ter) NC_000018.10:10773413:G:C Identity +NM_000384.3:c.3491G>C NP_000375.3:p.Arg1164Thr NC_000002.12:21015386:C:G p.(Arg1164Thr) NC_000002.12:21015386:C:G p.(Arg1164Thr) NC_000002.12:21015386:C:G Identity +NM_002709.3:c.754G>T NP_002700.1:p.Asp252Tyr NC_000002.12:28793871:G:T p.(Asp252Tyr) NC_000002.12:28793871:G:T p.(Asp252Tyr) NC_000002.12:28793871:G:T Identity +NM_001206696.2:c.1031T>C NP_001193625.1:p.Leu344Pro NC_000001.11:209788507:A:G p.(Leu344Pro) NC_000001.11:209788507:A:G p.(Leu344Pro) NC_000001.11:209788507:A:G Identity +NM_001368395.3:c.1768T>C NP_001355324.1:p.Cys590Arg NC_000023.11:12716115:T:C p.(Cys590Arg) NC_000023.11:12716115:T:C p.(Cys590Arg) NC_000023.11:12716115:T:C Identity +NM_000092.5:c.2276C>T NP_000083.3:p.Pro759Leu NC_000002.12:227059511:G:A p.(Pro759Leu) NC_000002.12:227059511:G:A p.(Pro759Leu) NC_000002.12:227059511:G:A Identity +NM_001080463.2:c.3638T>G NP_001073932.1:p.Leu1213Arg NC_000011.10:103155394:T:G p.(Leu1213Arg) NC_000011.10:103155394:T:G p.(Leu1213Arg) NC_000011.10:103155394:T:G Identity +NM_001330209.2:c.1126del NP_001317138.1:p.Gln376fs NC_000023.11:13756599:CCC:CC p.(Gln376SerfsTer5) NC_000023.11:13756599:CCC:CC p.(Gln376SerfsTer5) NC_000023.11:13756601:C: Analogous +NM_001407633.1:c.2192_2193delinsG NP_001394562.1:p.Glu731fs NC_000017.11:43093334:TT:C p.(Glu731GlyfsTer4) NC_000017.11:43093334:TT:C p.(Glu731GlyfsTer4) NC_000017.11:43093334:TT:C Analogous +NM_001407571.1:c.2148del NP_001394500.1:p.Val717fs NC_000017.11:43093169:TT:T p.(Val717LeufsTer4) NC_000017.11:43093169:TT:T p.(Val717LeufsTer4) NC_000017.11:43093169:T: Analogous +NM_001407571.1:c.2276_2279del NP_001394500.1:p.Lys759fs NC_000017.11:43093038:TACTTA:TA p.(Lys759IlefsTer15) NC_000017.11:43093038:TACTTA:TA p.(Lys759IlefsTer15) NC_000017.11:43093038:TACT: Analogous +NM_001407571.1:c.2404del NP_001394500.1:p.Ser802fs NC_000017.11:43092913:AAAA:AAA p.(Ser802GlnfsTer20) NC_000017.11:43092913:AAAA:AAA p.(Ser802GlnfsTer20) NC_000017.11:43092913:A: Analogous +NM_001407934.1:c.2370del NP_001394863.1:p.Glu791fs NC_000017.11:43092893:TT:T p.(Glu791ArgfsTer13) NC_000017.11:43092893:TT:T p.(Glu791ArgfsTer13) NC_000017.11:43092893:T: Analogous +NM_001408419.1:c.310delA NP_001395348.1:p.Ser104Alafs NC_000017.11:43104252:T: p.(Ser104AlafsTer15) NC_000017.11:43104252:T: p.(Ser104AlafsTer15) NC_000017.11:43104252:T: Analogous +NM_024592.5:c.744T>G NP_078868.1:p.Phe248Leu NC_000004.12:55369877:T:G p.(Phe248Leu) NC_000004.12:55369877:T:G p.(Phe248Leu) NC_000004.12:55369877:T:G Identity +NM_000271.5:c.3217G>A NP_000262.2:p.Gly1073Ser NC_000018.10:23536700:C:T p.(Gly1073Ser) NC_000018.10:23536700:C:T p.(Gly1073Ser) NC_000018.10:23536700:C:T Identity +LRG_144t1:c.958G>A LRG_144p1:p.Asp320Asn NC_000001.11:36472276:C:T ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_000784.4:c.673C>T NP_000775.1:p.Arg225Cys NC_000002.12:218812577:C:T p.(Arg225Cys) NC_000002.12:218812577:C:T p.(Arg225Cys) NC_000002.12:218812577:C:T Identity +NM_001407842.1:c.189delG NP_001394771.1:p.Glu64Lysfs NC_000017.11:43104231:CC:C p.(Glu64LysfsTer8) NC_000017.11:43104231:CC:C p.(Glu64LysfsTer8) NC_000017.11:43104232:C: Analogous +NM_001407682.1:c.3943C>T NP_001394611.1:p.Gln1315Ter NC_000017.11:43091464:G:A p.(Gln1315Ter) NC_000017.11:43091464:G:A p.(Gln1315Ter) NC_000017.11:43091464:G:A Identity +NM_001407571.1:c.4377delG NP_001394500.1:p.Val1460Leufs NC_000017.11:43074414:CC:C p.(Val1460LeufsTer17) NC_000017.11:43074414:CC:C p.(Val1460LeufsTer17) NC_000017.11:43074415:C: Analogous +NM_000059.4:c.103dup NP_000050.3:p.Leu35fs NC_000013.11:32319111:C:CC p.(Leu35ProfsTer9) NC_000013.11:32319111:C:CC p.(Leu35ProfsTer9) ERR:SPDI Analogous +NM_000426.4:c.7991del NP_000417.3:p.Gly2664fs NC_000006.12:129491988:GGGGG:GGGG p.(Gly2664ValfsTer64) NC_000006.12:129491988:GGGGG:GGGG p.(Gly2664ValfsTer64) NC_000006.12:129491992:G: Analogous +NM_001174146.2:c.781C>T NP_001167617.1:p.Arg261Cys NC_000009.12:126693562:C:T p.(Arg261Cys) NC_000009.12:126693562:C:T p.(Arg261Cys) NC_000009.12:126693562:C:T Identity +LRG_531t1:c.2007C>G LRG_531p1:p.Ser669Arg NC_000007.14:148810354:G:C ERR:Data provider error: ValueError: Transcript LRG_531t1 not found ERR:Data provider error: ValueError: Transcript LRG_531t1 not found ERR:AlignmentMapper(tx_ac=LRG_531t1, alt_ac=LRG_531t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_531t1, alt_ac=LRG_531t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_531t1 not found +NM_001204255.2:c.956_961delinsATGCATGCACC NP_001191184.1:p.Gly319fs NC_000004.12:76163232:TGGATC:GGTGCATGCAT p.(Gly319AspfsTer34) NC_000004.12:76163232:TGGATC:GGTGCATGCAT p.(Gly319AspfsTer34) NC_000004.12:76163232:TGGATC:GGTGCATGCAT Analogous +NM_000059.4:c.1454del NP_000050.3:p.Lys485fs NC_000013.11:32332929:AAA:AA p.(Lys485SerfsTer24) NC_000013.11:32332929:AAA:AA p.(Lys485SerfsTer24) NC_000013.11:32332931:A: Analogous +NM_000059.4:c.433_437del NP_000050.3:p.Val145fs NC_000013.11:32326106:TGTTCT:T p.(Val145ThrfsTer11) NC_000013.11:32326106:TGTTCT:T p.(Val145ThrfsTer11) NC_000013.11:32326107:GTTCT: Analogous +NM_000296.4:c.8644T>A NP_000287.4:p.Trp2882Arg NC_000016.10:2103412:A:T p.(Trp2882Arg) NC_000016.10:2103412:A:T p.(Trp2882Arg) NC_000016.10:2103412:A:T Identity +NM_001033855.3:c.728A>G NP_001029027.1:p.His243Arg NC_000010.11:14932905:T:C p.(His243Arg) NC_000010.11:14932905:T:C p.(His243Arg) NC_000010.11:14932905:T:C Identity +NM_001044385.3:c.194A>G NP_001037850.1:p.Asn65Ser NC_000002.12:201636827:T:C p.(Asn65Ser) NC_000002.12:201636827:T:C p.(Asn65Ser) NC_000002.12:201636827:T:C Identity +NM_001113378.2:c.257C>T NP_001106849.1:p.Ala86Val NC_000015.10:89260811:C:T p.(Ala86Val) NC_000015.10:89260811:C:T p.(Ala86Val) NC_000015.10:89260811:C:T Identity +NM_001008844.3:c.3551G>A NP_001008844.1:p.Arg1184Gln NC_000006.12:7579740:G:A p.(Arg1184Gln) NC_000006.12:7579740:G:A p.(Arg1184Gln) NC_000006.12:7579740:G:A Identity +NM_001282948.2:c.5864A>T NP_001269877.1:p.Glu1955Val NC_000010.11:63189327:T:A p.(Glu1955Val) NC_000010.11:63189327:T:A p.(Glu1955Val) NC_000010.11:63189327:T:A Identity +NM_000059.4:c.6099del NP_000050.3:p.Arg2034fs NC_000013.11:32340453:A: p.(Arg2034ValfsTer6) NC_000013.11:32340453:A: p.(Arg2034ValfsTer6) NC_000013.11:32340453:A: Analogous +NM_000059.4:c.6698del NP_000050.3:p.Ala2233fs NC_000013.11:32341052:C: p.(Ala2233ValfsTer8) NC_000013.11:32341052:C: p.(Ala2233ValfsTer8) NC_000013.11:32341052:C: Analogous +NM_000059.4:c.7363del NP_000050.3:p.His2455fs NC_000013.11:32355215:C: p.(His2455IlefsTer12) NC_000013.11:32355215:C: p.(His2455IlefsTer12) NC_000013.11:32355215:C: Analogous +NM_002180.3:c.823A>G NP_002171.2:p.Ile275Val NC_000011.10:68914933:A:G p.(Ile275Val) NC_000011.10:68914933:A:G p.(Ile275Val) NC_000011.10:68914933:A:G Identity +NM_003126.4:c.1958A>G NP_003117.2:p.Tyr653Cys NC_000001.11:158667937:T:C p.(Tyr653Cys) NC_000001.11:158667937:T:C p.(Tyr653Cys) NC_000001.11:158667937:T:C Identity +NM_003764.4:c.799G>A NP_003755.2:p.Val267Met NC_000006.12:144187425:G:A p.(Val267Met) NC_000006.12:144187425:G:A p.(Val267Met) NC_000006.12:144187425:G:A Identity +NM_001407666.1:c.3366_3376del NP_001394595.1:p.Ser1123fs NC_000017.11:43092031:CAGCAAAACTA: p.(Ser1123LysfsTer2) NC_000017.11:43092031:CAGCAAAACTA: p.(Ser1123LysfsTer2) NC_000017.11:43092031:CAGCAAAACTA: Analogous +NM_001407571.1:c.4005delG NP_001394500.1:p.Lys1335Asnfs NC_000017.11:43082542:C: p.(Lys1335AsnfsTer9) NC_000017.11:43082542:C: p.(Lys1335AsnfsTer9) NC_000017.11:43082542:C: Analogous +NM_001407571.1:c.4042G>T NP_001394500.1:p.Glu1348Ter NC_000017.11:43082505:C:A p.(Glu1348Ter) NC_000017.11:43082505:C:A p.(Glu1348Ter) NC_000017.11:43082505:C:A Identity +NM_001407571.1:c.5088delT NP_001394500.1:p.Cys1697Alafs NC_000017.11:43051092:AA:A p.(Cys1697AlafsTer25) NC_000017.11:43051092:AA:A p.(Cys1697AlafsTer25) NC_000017.11:43051093:A: Analogous +NM_000059.4:c.110C>A NP_000050.3:p.Ser37Ter NC_000013.11:32319118:C:A p.(Ser37Ter) NC_000013.11:32319118:C:A p.(Ser37Ter) NC_000013.11:32319118:C:A Identity +NM_001031681.3:c.397A>T NP_001026851.2:p.Ile133Phe NC_000017.11:3655287:A:T p.(Ile133Phe) NC_000017.11:3655287:A:T p.(Ile133Phe) NC_000017.11:3655287:A:T Identity +LRG_1234t1:c.2T>C LRG_1234p1:p.Met1Thr NC_000018.10:45967237:A:G ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +NM_004525.3:c.3659C>T NP_004516.2:p.Ala1220Val NC_000002.12:169242963:G:A p.(Ala1220Val) NC_000002.12:169242963:G:A p.(Ala1220Val) NC_000002.12:169242963:G:A Identity +NM_001166280.2:c.955T>C NP_001159752.1:p.Tyr319His NC_000009.12:110775791:T:C p.(Tyr319His) NC_000009.12:110775791:T:C p.(Tyr319His) NC_000009.12:110775791:T:C Identity +NM_000059.4:c.1841_1844del NP_000050.3:p.Ile614fs NC_000013.11:32333315:TAATTAA:TAA p.(Ile614ThrfsTer29) NC_000013.11:32333315:TAATTAA:TAA p.(Ile614ThrfsTer29) NC_000013.11:32333318:TTAA: Analogous +NM_005993.5:c.1130G>A NP_005984.3:p.Arg377Gln NC_000017.11:82807649:G:A p.(Arg377Gln) NC_000017.11:82807649:G:A p.(Arg377Gln) NC_000017.11:82807649:G:A Identity +NM_000059.4:c.5218_5224del NP_000050.3:p.Leu1740fs NC_000013.11:32339572:TTAAGTA: p.(Leu1740ThrfsTer35) NC_000013.11:32339572:TTAAGTA: p.(Leu1740ThrfsTer35) NC_000013.11:32339572:TTAAGTA: Analogous +NM_000059.4:c.8518del NP_000050.3:p.Ile2840fs NC_000013.11:32370985:A: p.(Ile2840TyrfsTer23) NC_000013.11:32370985:A: p.(Ile2840TyrfsTer23) NC_000013.11:32370985:A: Analogous +NM_001281428.2:c.1189G>A NP_001268357.1:p.Val397Met NC_000009.12:34506739:G:A p.(Val397Met) NC_000009.12:34506739:G:A p.(Val397Met) NC_000009.12:34506739:G:A Identity +NM_001370136.1:c.1798C>T NP_001357065.1:p.His600Tyr NC_000010.11:74976134:C:T p.(His600Tyr) NC_000010.11:74976134:C:T p.(His600Tyr) NC_000010.11:74976134:C:T Identity +LRG_1206t1:c.941C>T LRG_1206p1:p.Ala314Val NC_000017.11:61480238:C:T ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found ERR:AlignmentMapper(tx_ac=LRG_1206t1, alt_ac=LRG_1206t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1206t1, alt_ac=LRG_1206t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found +NM_000059.4:c.8888C>G NP_000050.3:p.Ser2963Ter NC_000013.11:32379449:C:G p.(Ser2963Ter) NC_000013.11:32379449:C:G p.(Ser2963Ter) NC_000013.11:32379449:C:G Identity +NM_144772.3:c.177C>A NP_658985.2:p.Tyr59Ter NC_000001.11:156591980:C:A p.(Tyr59Ter) NC_000001.11:156591980:C:A p.(Tyr59Ter) NC_000001.11:156591980:C:A Identity +NM_001365276.2:c.11921A>C NP_001352205.1:p.Asn3974Thr NC_000006.12:32042954:T:G p.(Asn3974Thr) NC_000006.12:32042954:T:G p.(Asn3974Thr) NC_000006.12:32042954:T:G Identity +NM_001365276.2:c.1469G>A NP_001352205.1:p.Arg490Gln NC_000006.12:32096383:C:T p.(Arg490Gln) NC_000006.12:32096383:C:T p.(Arg490Gln) NC_000006.12:32096383:C:T Identity +NM_001349896.1:c.1962C>T NP_001336825.1:p.Ala654= NC_000022.11:26453397:G:A p.(Ala654=) NC_000022.11:26453397:G:A p.(Ala654=) NC_000022.11:26453397:G:A Identity +NM_023067.4:c.536C>G NP_075555.1:p.Ala179Gly NC_000003.12:138946186:G:C p.(Ala179Gly) NC_000003.12:138946186:G:C p.(Ala179Gly) NC_000003.12:138946186:G:C Identity +NM_025193.4:c.1040T>C NP_079469.2:p.Leu347Pro NC_000016.10:30988112:T:C p.(Leu347Pro) NC_000016.10:30988112:T:C p.(Leu347Pro) NC_000016.10:30988112:T:C Identity +NM_001379081.2:c.3634G>T NP_001366010.1:p.Ala1212Ser NC_000009.12:14801711:C:A p.(Ala1212Ser) NC_000009.12:14801711:C:A p.(Ala1212Ser) NC_000009.12:14801711:C:A Identity +NM_001286256.2:c.238C>T NP_001273185.1:p.Arg80Cys NC_000012.12:57248782:G:A p.(Arg80Cys) NC_000012.12:57248782:G:A p.(Arg80Cys) NC_000012.12:57248782:G:A Identity +NM_001354989.2:c.1921C>T NP_001341918.1:p.Pro641Ser NC_000005.10:180621640:G:A p.(Pro641Ser) NC_000005.10:180621640:G:A p.(Pro641Ser) NC_000005.10:180621640:G:A Identity +NM_001354989.2:c.2670C>G NP_001341918.1:p.His890Gln NC_000005.10:180619343:G:C p.(His890Gln) NC_000005.10:180619343:G:C p.(His890Gln) NC_000005.10:180619343:G:C Identity +NM_182925.5:c.3962G>A NP_891555.2:p.Arg1321Gln NC_000005.10:180603321:C:T p.(Arg1321Gln) NC_000005.10:180603321:C:T p.(Arg1321Gln) NC_000005.10:180603321:C:T Identity +NM_001305275.2:c.2555A>G NP_001292204.1:p.Gln852Arg NC_000001.11:1045750:A:G p.(Gln852Arg) NC_000001.11:1045750:A:G p.(Gln852Arg) NC_000001.11:1045750:A:G Identity +NM_001256850.1:c.70528_70530del NP_001243779.1:p.Glu23510del NC_000002.12:178570678:CTCCT:CT p.(Glu23510del) NC_000002.12:178570678:CTCCT:CT p.(Glu23510del) NC_000002.12:178570678:CTC: Identity +NM_001040113.2:c.3430G>T NP_001035202.1:p.Ala1144Ser NC_000016.10:15735462:C:A p.(Ala1144Ser) NC_000016.10:15735462:C:A p.(Ala1144Ser) NC_000016.10:15735462:C:A Identity +NM_001999.4:c.2777C>A NP_001990.2:p.Ala926Asp NC_000005.10:128350902:G:T p.(Ala926Asp) NC_000005.10:128350902:G:T p.(Ala926Asp) NC_000005.10:128350902:G:T Identity +NM_000138.5:c.6302C>T NP_000129.3:p.Thr2101Met NC_000015.10:48437778:G:A p.(Thr2101Met) NC_000015.10:48437778:G:A p.(Thr2101Met) NC_000015.10:48437778:G:A Identity +NM_001130916.3:c.810C>G NP_001124388.1:p.Cys270Trp NC_000009.12:99144798:C:G p.(Cys270Trp) NC_000009.12:99144798:C:G p.(Cys270Trp) NC_000009.12:99144798:C:G Identity +NM_003373.4:c.1856C>A NP_003364.1:p.Ala619Glu NC_000010.11:74097315:C:A p.(Ala619Glu) NC_000010.11:74097315:C:A p.(Ala619Glu) NC_000010.11:74097315:C:A Identity +NM_001007188.4:c.985del NP_001007189.1:p.Thr329fs NC_000022.11:31802740:AA:A p.(Thr329LeufsTer7) NC_000022.11:31802740:AA:A p.(Thr329LeufsTer7) NC_000022.11:31802741:A: Analogous +NM_001958.5:c.1267C>T NP_001949.1:p.Arg423Cys NC_000020.11:63488422:G:A p.(Arg423Cys) NC_000020.11:63488422:G:A p.(Arg423Cys) NC_000020.11:63488422:G:A Identity +NM_001272003.2:c.1291T>C NP_001258932.1:p.Trp431Arg NC_000009.12:135768852:T:C p.(Trp431Arg) NC_000009.12:135768852:T:C p.(Trp431Arg) NC_000009.12:135768852:T:C Identity +NM_003482.4:c.1634del NP_003473.3:p.Leu545fs NC_000012.12:49052048:A: p.(Leu545ArgfsTer385) NC_000012.12:49052048:A: p.(Leu545ArgfsTer385) NC_000012.12:49052048:A: Analogous +NM_001126054.3:c.609G>A NP_001119526.1:p.Trp203Ter NC_000023.11:41665375:C:T p.(Trp203Ter) NC_000023.11:41665375:C:T p.(Trp203Ter) NC_000023.11:41665375:C:T Identity +NM_001197181.2:c.956G>T NP_001184110.1:p.Arg319Leu NC_000016.10:89935622:G:T p.(Arg319Leu) NC_000016.10:89935622:G:T p.(Arg319Leu) NC_000016.10:89935622:G:T Identity +NM_000532.5:c.337C>T NP_000523.2:p.Arg113Ter NC_000003.12:136256587:C:T p.(Arg113Ter) NC_000003.12:136256587:C:T p.(Arg113Ter) NC_000003.12:136256587:C:T Identity +NM_000122.2:c.325C>T NP_000113.1:p.Arg109Ter NC_000002.12:127292755:G:A p.(Arg109Ter) NC_000002.12:127292755:G:A p.(Arg109Ter) NC_000002.12:127292755:G:A Identity +NM_001126054.3:c.2031G>A NP_001119526.1:p.Trp677Ter NC_000023.11:41542745:C:T p.(Trp677Ter) NC_000023.11:41542745:C:T p.(Trp677Ter) NC_000023.11:41542745:C:T Identity +NM_001005360.3:c.1879C>G NP_001005360.1:p.Pro627Ala NC_000019.10:10823884:C:G p.(Pro627Ala) NC_000019.10:10823884:C:G p.(Pro627Ala) NC_000019.10:10823884:C:G Identity +NM_001256850.1:c.11487_11497del NP_001243779.1:p.Ser3830fs NC_000002.12:178740784:GGTTGGGAGATGGTT:GGTT p.(Ser3830ThrfsTer20) NC_000002.12:178740784:GGTTGGGAGATGGTT:GGTT p.(Ser3830ThrfsTer20) NC_000002.12:178740784:GGTTGGGAGAT: Analogous +NM_001199397.3:c.1137T>A NP_001186326.1:p.Asp379Glu NC_000004.12:169561834:A:T p.(Asp379Glu) NC_000004.12:169561834:A:T p.(Asp379Glu) NC_000004.12:169561834:A:T Identity +NM_001199397.3:c.2137G>A NP_001186326.1:p.Val713Met NC_000004.12:169479404:C:T p.(Val713Met) NC_000004.12:169479404:C:T p.(Val713Met) NC_000004.12:169479404:C:T Identity +NM_001407571.1:c.1362del NP_001394500.1:p.Gln455fs NC_000017.11:43093955:AA:A p.(Gln455LysfsTer6) NC_000017.11:43093955:AA:A p.(Gln455LysfsTer6) NC_000017.11:43093955:A: Analogous +NM_001407673.1:c.2270del NP_001394602.1:p.Asn757fs NC_000017.11:43093134:TTT:TT p.(Asn757IlefsTer4) NC_000017.11:43093134:TTT:TT p.(Asn757IlefsTer4) NC_000017.11:43093134:T: Analogous +NM_001407571.1:c.145A>T NP_001394500.1:p.Lys49Ter NC_000017.11:43104207:T:A p.(Lys49Ter) NC_000017.11:43104207:T:A p.(Lys49Ter) NC_000017.11:43104207:T:A Identity +NM_001407571.1:c.516_517insGTAACAAATACTGAACATCATCAACCCAGTA NP_001394500.1:p.Asn173Valfs NC_000017.11:43094801::TACTGGGTTGATGATGTTCAGTATTTGTTAC p.(Asn173ValfsTer12) NC_000017.11:43094800:T:TACTGGGTTGATGATGTTCAGTATTTGTTAC p.(Asn173ValfsTer12) NC_000017.11:43094801:TA:TACTGGGTTGATGATGTTCAGTATTTGTTAC Analogous +NM_000059.4:c.1023T>A NP_000050.3:p.Cys341Ter NC_000013.11:32332500:T:A p.(Cys341Ter) NC_000013.11:32332500:T:A p.(Cys341Ter) NC_000013.11:32332500:T:A Identity +NM_000059.4:c.2896dup NP_000050.3:p.Thr966fs NC_000013.11:32337250:A:AA p.(Thr966AsnfsTer16) NC_000013.11:32337250:A:AA p.(Thr966AsnfsTer16) ERR:SPDI Analogous +NM_000059.4:c.927del NP_000050.3:p.Leu310fs NC_000013.11:32332404:A: p.(Leu310TyrfsTer14) NC_000013.11:32332404:A: p.(Leu310TyrfsTer14) NC_000013.11:32332404:A: Analogous +NM_000059.4:c.9836T>A NP_000050.3:p.Leu3279Ter NC_000013.11:32398348:T:A p.(Leu3279Ter) NC_000013.11:32398348:T:A p.(Leu3279Ter) NC_000013.11:32398348:T:A Identity +NM_001655.5:c.157_158del NP_001646.2:p.Ser53fs NC_000011.10:118581394:AGAGAG:AGAG p.(Ser53CysfsTer39) NC_000011.10:118581394:AGAGAG:AGAG p.(Ser53CysfsTer39) NC_000011.10:118581398:AG: Analogous +NM_017780.4:c.7282dup NP_060250.2:p.Arg2428fs NC_000008.11:60856561:C:CC p.(Arg2428ProfsTer42) NC_000008.11:60856561:C:CC p.(Arg2428ProfsTer42) ERR:SPDI Analogous +NM_001193376.3:c.337dup NP_001180305.1:p.Glu113fs NC_000005.10:1294548:C:CC p.(Glu113GlyfsTer79) NC_000005.10:1294548:C:CC p.(Glu113GlyfsTer79) ERR:SPDI Analogous +NM_001321309.2:c.3931C>T NP_001308238.1:p.Arg1311Ter NC_000003.12:123647383:G:A p.(Arg1311Ter) NC_000003.12:123647383:G:A p.(Arg1311Ter) NC_000003.12:123647383:G:A Identity +NM_032043.3:c.878A>G NP_114432.2:p.Asn293Ser NC_000017.11:61808506:T:C p.(Asn293Ser) NC_000017.11:61808506:T:C p.(Asn293Ser) NC_000017.11:61808506:T:C Identity +NM_001256324.2:c.6521C>A NP_001243253.1:p.Pro2174His NC_000017.11:50626326:C:A p.(Pro2174His) NC_000017.11:50626326:C:A p.(Pro2174His) NC_000017.11:50626326:C:A Identity +NM_000390.4:c.757C>T NP_000381.1:p.Arg253Ter NC_000023.11:85958922:G:A p.(Arg253Ter) NC_000023.11:85958922:G:A p.(Arg253Ter) NC_000023.11:85958922:G:A Identity +NM_000427.3:c.684dup NP_000418.2:p.Ser229fs NC_000001.11:153261627:GGGGGG:GGGGGGG p.(Ser229ValfsTer107) NC_000001.11:153261627:GGGGGG:GGGGGGG p.(Ser229ValfsTer107) ERR:SPDI Analogous +LRG_329t1:c.346T>C LRG_329p1:p.Cys116Arg NC_000003.12:8745756:T:C ERR:Data provider error: ValueError: Transcript LRG_329t1 not found ERR:Data provider error: ValueError: Transcript LRG_329t1 not found ERR:AlignmentMapper(tx_ac=LRG_329t1, alt_ac=LRG_329t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_329t1, alt_ac=LRG_329t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_329t1 not found +NM_001234.5:c.401C>T NP_001225.1:p.Ala134Val NC_000003.12:8745811:C:T p.(Ala134Val) NC_000003.12:8745811:C:T p.(Ala134Val) NC_000003.12:8745811:C:T Identity +NM_000244.4:c.1561dup NP_000235.3:p.Arg521fs NC_000011.10:64804620:GGGGGGG:GGGGGGGG p.(Arg521ProfsTer15) NC_000011.10:64804620:GGGGGGG:GGGGGGGG p.(Arg521ProfsTer15) ERR:SPDI Analogous +NM_001363746.1:c.887G>C NP_001350675.1:p.Arg296Pro NC_000009.12:136197598:C:G p.(Arg296Pro) NC_000009.12:136197598:C:G p.(Arg296Pro) NC_000009.12:136197598:C:G Identity +NM_001127897.4:c.1489G>T NP_001121369.1:p.Glu497Ter NC_000016.10:53657544:C:A p.(Glu497Ter) NC_000016.10:53657544:C:A p.(Glu497Ter) NC_000016.10:53657544:C:A Identity +NM_017780.4:c.6754del NP_060250.2:p.Glu2252fs NC_000008.11:60853477:GG:G p.(Glu2252LysfsTer25) NC_000008.11:60853477:GG:G p.(Glu2252LysfsTer25) NC_000008.11:60853478:G: Analogous +NM_001199771.3:c.160C>T NP_001186700.1:p.Arg54Ter NC_000012.12:55721343:C:T p.(Arg54Ter) NC_000012.12:55721343:C:T p.(Arg54Ter) NC_000012.12:55721343:C:T Identity +NM_000346.4:c.442G>T NP_000337.1:p.Glu148Ter NC_000017.11:72122728:G:T p.(Glu148Ter) NC_000017.11:72122728:G:T p.(Glu148Ter) NC_000017.11:72122728:G:T Identity +NM_003106.4:c.480C>G NP_003097.1:p.Tyr160Ter NC_000003.12:181712839:C:G p.(Tyr160Ter) NC_000003.12:181712839:C:G p.(Tyr160Ter) NC_000003.12:181712839:C:G Identity +NM_001354609.2:c.2029G>A NP_001341538.1:p.Asp677Asn NC_000007.14:140739909:C:T p.(Asp677Asn) NC_000007.14:140739909:C:T p.(Asp677Asn) NC_000007.14:140739909:C:T Identity +NM_000444.6:c.1601C>T NP_000435.3:p.Pro534Leu NC_000023.11:22190457:C:T p.(Pro534Leu) NC_000023.11:22190457:C:T p.(Pro534Leu) NC_000023.11:22190457:C:T Identity +NM_000540.3:c.6806dup NP_000531.2:p.Ser2270fs NC_000019.10:38496866:GGG:GGGG p.(Ser2270LeufsTer13) NC_000019.10:38496866:GGG:GGGG p.(Ser2270LeufsTer13) ERR:SPDI Analogous +NM_000083.3:c.1453A>G NP_000074.3:p.Met485Val NC_000007.14:143339303:A:G p.(Met485Val) NC_000007.14:143339303:A:G p.(Met485Val) NC_000007.14:143339303:A:G Identity +NM_001354927.2:c.148C>T NP_001341856.1:p.Arg50Cys NC_000009.12:35067909:G:A p.(Arg50Cys) NC_000009.12:35067909:G:A p.(Arg50Cys) NC_000009.12:35067909:G:A Identity +NM_001374425.1:c.1A>G NP_001361354.1:p.Met1Val NC_000001.11:2412501:T:C p.(Met1Val) NC_000001.11:2412501:T:C p.Met1? NC_000001.11:2412501:T:C Identity +NM_001040875.4:c.297del NP_001035808.1:p.Glu100fs NC_000008.11:74361899:A: p.(Glu100SerfsTer4) NC_000008.11:74361899:A: p.(Glu100SerfsTer4) NC_000008.11:74361899:A: Analogous +NM_001127366.3:c.809G>A NP_001120838.1:p.Arg270His NC_000002.12:222221367:C:T p.(Arg270His) NC_000002.12:222221367:C:T p.(Arg270His) NC_000002.12:222221367:C:T Identity +NM_000199.5:c.629G>A NP_000190.1:p.Trp210Ter NC_000017.11:80214205:C:T p.(Trp210Ter) NC_000017.11:80214205:C:T p.(Trp210Ter) NC_000017.11:80214205:C:T Identity +NM_001111125.3:c.2272C>T NP_001104595.1:p.Arg758Ter NC_000023.11:53250303:G:A p.(Arg758Ter) NC_000023.11:53250303:G:A p.(Arg758Ter) NC_000023.11:53250303:G:A Identity +NM_001276289.2:c.374dup NP_001263218.1:p.Met125fs NC_000017.11:68523749:T:TT p.(Met125IlefsTer9) NC_000017.11:68523749:T:TT p.(Met125IlefsTer9) ERR:SPDI Analogous +NM_000068.4:c.4079T>G NP_000059.3:p.Ile1360Ser NC_000019.10:13262755:A:C p.(Ile1360Ser) NC_000019.10:13262755:A:C p.(Ile1360Ser) NC_000019.10:13262755:A:C Identity +NM_001288715.1:c.2380C>T NP_001275644.1:p.Arg794Ter NC_000005.10:11082830:G:A p.(Arg794Ter) NC_000005.10:11082830:G:A p.(Arg794Ter) NC_000005.10:11082830:G:A Identity +NM_000061.3:c.469C>T NP_000052.1:p.Gln157Ter NC_000023.11:101362611:G:A p.(Gln157Ter) NC_000023.11:101362611:G:A p.(Gln157Ter) NC_000023.11:101362611:G:A Identity +NM_198525.3:c.1106del NP_940927.2:p.Ala369fs NC_000015.10:89648591:G: p.(Ala369GlyfsTer86) NC_000015.10:89648591:G: p.(Ala369GlyfsTer86) NC_000015.10:89648591:G: Analogous +NM_001370134.1:c.1414_1415del NP_001357063.1:p.Arg472fs NC_000010.11:75025079:AGAGAG:AGAG p.(Arg472AlafsTer10) NC_000010.11:75025079:AGAGAG:AGAG p.(Arg472AlafsTer10) NC_000010.11:75025083:AG: Analogous +NM_006516.4:c.939dup NP_006507.2:p.Gly314fs NC_000001.11:42929242:GG:GGG p.(Gly314ArgfsTer67) NC_000001.11:42929242:GG:GGG p.(Gly314ArgfsTer67) ERR:SPDI Analogous +NM_001261427.3:c.1273_1274dup NP_001248356.1:p.Asp425fs NC_000002.12:11784887:GAGA:GAGAGA p.(Asp425GlufsTer41) NC_000002.12:11784887:GAGA:GAGAGA p.(Asp425GlufsTer41) ERR:SPDI Analogous +NM_001282424.3:c.1472T>C NP_001269353.2:p.Ile491Thr NC_000012.12:8857259:T:C p.(Ile491Thr) NC_000012.12:8857259:T:C p.(Ile491Thr) NC_000012.12:8857259:T:C Identity +NM_003482.4:c.5139del NP_003473.3:p.Pro1714fs NC_000012.12:49044248:CCCC:CCC p.(Pro1714LeufsTer8) NC_000012.12:49044248:CCCC:CCC p.(Pro1714LeufsTer8) NC_000012.12:49044248:C: Analogous +NM_000068.4:c.2130G>T NP_000059.3:p.Leu710Phe NC_000019.10:13303590:C:A p.(Leu710Phe) NC_000019.10:13303590:C:A p.(Leu710Phe) NC_000019.10:13303590:C:A Identity +NM_001303052.2:c.487G>T NP_001289981.1:p.Glu163Ter NC_000002.12:1942999:C:A p.(Glu163Ter) NC_000002.12:1942999:C:A p.(Glu163Ter) NC_000002.12:1942999:C:A Identity +NM_000319.5:c.1779_1781delinsTC NP_000310.2:p.Glu593fs NC_000012.12:7210105:GAA:TC p.(Glu593AspfsTer14) NC_000012.12:7210104:AGAA:ATC p.(Glu593AspfsTer14) NC_000012.12:7210105:GAA:TC Analogous +NM_001126054.3:c.2181dup NP_001119526.1:p.Asn729Lysfs NC_000023.11:41534752:TTTTTT:TTTTTTT p.(Asn729LysfsTer38) NC_000023.11:41534752:TTTTTT:TTTTTTT p.(Asn729LysfsTer38) ERR:SPDI Analogous +NM_000314.8:c.392_393dup NP_000305.3:p.Gly132fs NC_000010.11:87933150:CT:CTCT p.(Gly132LeufsTer3) NC_000010.11:87933150:CT:CTCT p.(Gly132LeufsTer3) ERR:SPDI Analogous +NM_001330210.2:c.547del NP_001317139.1:p.Ser183fs NC_000023.11:13751276:AAAA:AAA p.(Ser183AlafsTer2) NC_000023.11:13751276:AAAA:AAA p.(Ser183AlafsTer2) NC_000023.11:13751279:A: Analogous +NM_000155.4:c.277T>A NP_000146.2:p.Phe93Ile NC_000009.12:34647515:T:A p.(Phe93Ile) NC_000009.12:34647515:T:A p.(Phe93Ile) NC_000009.12:34647515:T:A Identity +NM_020988.3:c.118G>T NP_066268.1:p.Gly40Trp NC_000016.10:56192352:G:T p.(Gly40Trp) NC_000016.10:56192352:G:T p.(Gly40Trp) NC_000016.10:56192352:G:T Identity +NM_005859.5:c.116dup NP_005850.1:p.Gly40fs NC_000005.10:140114292:GGGGG:GGGGGG p.(Gly40ArgfsTer161) NC_000005.10:140114292:GGGGG:GGGGGG p.(Gly40ArgfsTer161) ERR:SPDI Analogous +NM_002016.2:c.11246C>G NP_002007.1:p.Ser3749Ter NC_000001.11:152303639:G:C p.(Ser3749Ter) NC_000001.11:152303639:G:C p.(Ser3749Ter) NC_000001.11:152303639:G:C Identity +NM_001271.4:c.3220del NP_001262.3:p.Arg1074fs NC_000015.10:92984482:C: p.(Arg1074GlyfsTer83) NC_000015.10:92984482:C: p.(Arg1074GlyfsTer83) NC_000015.10:92984482:C: Analogous +NM_000022.4:c.532dup NP_000013.2:p.Val178fs NC_000020.11:44624275:CC:CCC p.(Val178GlyfsTer4) NC_000020.11:44624275:CC:CCC p.(Val178GlyfsTer4) ERR:SPDI Analogous +NM_004518.6:c.274dup NP_004509.2:p.Ala92fs NC_000020.11:63472189:CCC:CCCC p.(Ala92GlyfsTer28) NC_000020.11:63472189:CCC:CCCC p.(Ala92GlyfsTer28) ERR:SPDI Analogous +NM_030665.4:c.2275G>T NP_109590.3:p.Gly759Ter NC_000017.11:17795222:G:T p.(Gly759Ter) NC_000017.11:17795222:G:T p.(Gly759Ter) NC_000017.11:17795222:G:T Identity +NM_000074.3:c.638del NP_000065.1:p.Ser213fs NC_000023.11:136659266:G: p.(Ser213IlefsTer29) NC_000023.11:136659266:G: p.(Ser213IlefsTer29) NC_000023.11:136659266:G: Analogous +NM_001079668.3:c.512del NP_001073136.1:p.Gly171fs NC_000014.9:36517971:CCC:CC p.(Gly171AlafsTer9) NC_000014.9:36517971:CCC:CC p.(Gly171AlafsTer9) NC_000014.9:36517971:C: Analogous +NM_020451.3:c.1715C>A NP_065184.2:p.Thr572Asn NC_000001.11:25815659:C:A p.(Thr572Asn) NC_000001.11:25815659:C:A p.? NC_000001.11:25815659:C:A Identity +NM_015884.4:c.727C>T NP_056968.1:p.Pro243Ser NC_000023.11:21868522:C:T p.(Pro243Ser) NC_000023.11:21868522:C:T p.(Pro243Ser) NC_000023.11:21868522:C:T Identity +NM_001278055.2:c.2555T>C NP_001264984.1:p.Ile852Thr NC_000013.11:23340879:A:G p.(Ile852Thr) NC_000013.11:23340879:A:G p.(Ile852Thr) NC_000013.11:23340879:A:G Identity +NM_005249.5:c.251C>G NP_005240.3:p.Pro84Arg NC_000014.9:28767529:C:G p.(Pro84Arg) NC_000014.9:28767529:C:G p.(Pro84Arg) NC_000014.9:28767529:C:G Identity +NM_004518.6:c.992del NP_004509.2:p.Lys331fs NC_000020.11:63438655:TT:T p.(Lys331ArgfsTer9) NC_000020.11:63438655:TT:T p.(Lys331ArgfsTer9) NC_000020.11:63438655:T: Analogous +NM_000109.4:c.4273G>C NP_000100.3:p.Gly1425Arg NC_000023.11:32390117:C:G p.(Gly1425Arg) NC_000023.11:32390117:C:G p.(Gly1425Arg) NC_000023.11:32390117:C:G Identity +NM_000016.6:c.134A>G NP_000007.1:p.Gln45Arg NC_000001.11:75732658:A:G p.(Gln45Arg) NC_000001.11:75732658:A:G p.(Gln45Arg) NC_000001.11:75732658:A:G Identity +NM_000433.4:c.1256A>T NP_000424.2:p.Asn419Ile NC_000001.11:183563228:T:A p.(Asn419Ile) NC_000001.11:183563228:T:A p.(Asn419Ile) NC_000001.11:183563228:T:A Identity +NM_000445.5:c.2036C>T NP_000436.2:p.Thr679Ile NC_000008.11:143932421:G:A p.(Thr679Ile) NC_000008.11:143932421:G:A p.(Thr679Ile) NC_000008.11:143932421:G:A Identity +NM_001362843.2:c.739A>G NP_001349772.1:p.Met247Val NC_000022.11:41125872:A:G p.(Met247Val) NC_000022.11:41125872:A:G p.(Met247Val) NC_000022.11:41125872:A:G Identity +NM_001256850.1:c.71552A>C NP_001243779.1:p.His23851Pro NC_000002.12:178569656:T:G p.(His23851Pro) NC_000002.12:178569656:T:G p.(His23851Pro) NC_000002.12:178569656:T:G Identity +NM_004994.3:c.1721G>C NP_004985.2:p.Arg574Pro NC_000020.11:46013766:G:C p.(Arg574Pro) NC_000020.11:46013766:G:C p.(Arg574Pro) NC_000020.11:46013766:G:C Identity +NM_025114.4:c.5803G>T NP_079390.3:p.Glu1935Ter NC_000012.12:88071832:C:A p.(Glu1935Ter) NC_000012.12:88071832:C:A p.(Glu1935Ter) NC_000012.12:88071832:C:A Identity +NM_001256213.2:c.146T>C NP_001243142.1:p.Val49Ala NC_000019.10:41988357:A:G p.(Val49Ala) NC_000019.10:41988357:A:G p.(Val49Ala) NC_000019.10:41988357:A:G Identity +NM_000028.3:c.4124A>G NP_000019.2:p.Tyr1375Cys NC_000001.11:99913700:A:G p.(Tyr1375Cys) NC_000001.11:99913700:A:G p.(Tyr1375Cys) NC_000001.11:99913700:A:G Identity +NM_001393364.1:c.977A>G NP_001380293.1:p.Lys326Arg NC_000003.12:33134218:A:G p.(Lys326Arg) NC_000003.12:33134218:A:G p.(Lys326Arg) NC_000003.12:33134218:A:G Identity +NM_000445.5:c.3742G>T NP_000436.2:p.Ala1248Ser NC_000008.11:143927504:C:A p.(Ala1248Ser) NC_000008.11:143927504:C:A p.(Ala1248Ser) NC_000008.11:143927504:C:A Identity +NM_001166111.2:c.200T>C NP_001159583.1:p.Val67Ala NC_000019.10:7535960:T:C p.(Val67Ala) NC_000019.10:7535960:T:C p.(Val67Ala) NC_000019.10:7535960:T:C Identity +NM_001277115.2:c.9499A>C NP_001264044.1:p.Thr3167Pro NC_000007.14:21784441:A:C p.(Thr3167Pro) NC_000007.14:21784441:A:C p.(Thr3167Pro) NC_000007.14:21784441:A:C Identity +NM_000445.5:c.12556C>T NP_000436.2:p.Arg4186Cys NC_000008.11:143917345:G:A p.(Arg4186Cys) NC_000008.11:143917345:G:A p.(Arg4186Cys) NC_000008.11:143917345:G:A Identity +NM_001142800.2:c.8789A>G NP_001136272.1:p.Asp2930Gly NC_000006.12:63721241:T:C p.(Asp2930Gly) NC_000006.12:63721241:T:C p.(Asp2930Gly) NC_000006.12:63721241:T:C Identity +NM_004369.4:c.1322T>C NP_004360.2:p.Val441Ala NC_000002.12:237381489:A:G p.(Val441Ala) NC_000002.12:237381489:A:G p.(Val441Ala) NC_000002.12:237381489:A:G Identity +NM_001101417.4:c.307G>A NP_001094887.1:p.Glu103Lys NC_000007.14:16406287:C:T p.(Glu103Lys) NC_000007.14:16406287:C:T p.(Glu103Lys) NC_000007.14:16406287:C:T Identity +NM_001347701.2:c.1105A>G NP_001334630.1:p.Ile369Val NC_000006.12:152149619:T:C p.(Ile369Val) NC_000006.12:152149619:T:C p.(Ile369Val) NC_000006.12:152149619:T:C Identity +NM_000466.3:c.2842C>T NP_000457.1:p.Arg948Trp NC_000007.14:92494570:G:A p.(Arg948Trp) NC_000007.14:92494570:G:A p.(Arg948Trp) NC_000007.14:92494570:G:A Identity +NM_000466.3:c.1111A>T NP_000457.1:p.Arg371Trp NC_000007.14:92517403:T:A p.(Arg371Trp) NC_000007.14:92517403:T:A p.(Arg371Trp) NC_000007.14:92517403:T:A Identity +NM_033071.5:c.17270C>G NP_149062.2:p.Thr5757Arg NC_000006.12:152301926:G:C p.(Thr5757Arg) NC_000006.12:152301926:G:C p.(Thr5757Arg) NC_000006.12:152301926:G:C Identity +NM_001105243.2:c.2231G>A NP_001098713.1:p.Arg744Gln NC_000023.11:100402767:C:T p.(Arg744Gln) NC_000023.11:100402767:C:T p.(Arg744Gln) NC_000023.11:100402767:C:T Identity +NM_001354609.2:c.113C>T NP_001341538.1:p.Ala38Val NC_000007.14:140924590:G:A p.(Ala38Val) NC_000007.14:140924590:G:A p.(Ala38Val) NC_000007.14:140924590:G:A Identity +NM_015295.3:c.3527_3528inv NP_056110.2:p.Thr1176Met NC_000018.10:2740714:CA:TG p.(Thr1176Met) NC_000018.10:2740714:CA:TG p.(Thr1176Met) ERR:SPDI Identity +NM_033071.5:c.1859C>T NP_149062.2:p.Ser620Phe NC_000006.12:152465351:G:A p.(Ser620Phe) NC_000006.12:152465351:G:A p.(Ser620Phe) NC_000006.12:152465351:G:A Identity +NM_015180.6:c.4133A>G NP_055995.4:p.Asp1378Gly NC_000014.9:64003065:A:G p.(Asp1378Gly) NC_000014.9:64003065:A:G p.(Asp1378Gly) NC_000014.9:64003065:A:G Identity +NM_004369.4:c.1217G>A NP_004360.2:p.Arg406His NC_000002.12:237387676:C:T p.(Arg406His) NC_000002.12:237387676:C:T p.(Arg406His) NC_000002.12:237387676:C:T Identity +NM_001256850.1:c.20524G>A NP_001243779.1:p.Val6842Ile NC_000002.12:178723624:C:T p.(Val6842Ile) NC_000002.12:178723624:C:T p.(Val6842Ile) NC_000002.12:178723624:C:T Identity +NM_001256850.1:c.77353G>A NP_001243779.1:p.Ala25785Thr NC_000002.12:178563855:C:T p.(Ala25785Thr) NC_000002.12:178563855:C:T p.(Ala25785Thr) NC_000002.12:178563855:C:T Identity +NM_000445.5:c.11395C>T NP_000436.2:p.Arg3799Cys NC_000008.11:143918506:G:A p.(Arg3799Cys) NC_000008.11:143918506:G:A p.(Arg3799Cys) NC_000008.11:143918506:G:A Identity +NM_001165928.4:c.2561G>A NP_001159400.3:p.Arg854Gln NC_000003.12:49533071:G:A p.(Arg854Gln) NC_000003.12:49533071:G:A p.(Arg854Gln) NC_000003.12:49533071:G:A Identity +LRG_1390t1:c.1513G>A LRG_1390p1:p.Gly505Ser NC_000001.11:162772031:G:A ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found +NM_001130455.2:c.3986C>T NP_001123927.1:p.Ala1329Val NC_000002.12:71611323:C:T p.(Ala1329Val) NC_000002.12:71611323:C:T p.(Ala1329Val) NC_000002.12:71611323:C:T Identity +NM_000523.4:c.41C>T NP_000514.2:p.Ala14Val NC_000002.12:176092930:C:T p.(Ala14Val) NC_000002.12:176092930:C:T p.(Ala14Val) NC_000002.12:176092930:C:T Identity +NM_015180.6:c.3506G>A NP_055995.4:p.Arg1169His NC_000014.9:64000586:G:A p.(Arg1169His) NC_000014.9:64000586:G:A p.(Arg1169His) NC_000014.9:64000586:G:A Identity +NM_001017979.3:c.551_552del NP_001017979.1:p.Lys184fs NC_000004.12:13376565:TTT:T p.(Lys184SerfsTer27) NC_000004.12:13376565:TTT:T p.(Lys184SerfsTer27) NC_000004.12:13376565:TT: Analogous +NM_001256269.2:c.1415A>T NP_001243198.1:p.Gln472Leu NC_000016.10:29804006:A:T p.(Gln472Leu) NC_000016.10:29804006:A:T p.(Gln472Leu) NC_000016.10:29804006:A:T Identity +NM_000152.5:c.25T>C NP_000143.2:p.Ser9Pro NC_000017.11:80104610:T:C p.(Ser9Pro) NC_000017.11:80104610:T:C p.(Ser9Pro) NC_000017.11:80104610:T:C Identity +NM_000445.5:c.11848A>G NP_000436.2:p.Lys3950Glu NC_000008.11:143918053:T:C p.(Lys3950Glu) NC_000008.11:143918053:T:C p.(Lys3950Glu) NC_000008.11:143918053:T:C Identity +NM_000109.4:c.10267G>A NP_000100.3:p.Asp3423Asn NC_000023.11:31173575:C:T p.(Asp3423Asn) NC_000023.11:31173575:C:T p.(Asp3423Asn) NC_000023.11:31173575:C:T Identity +NM_002098.6:c.187C>T NP_002089.4:p.Arg63Ter NC_000006.12:42194633:G:A p.(Arg63Ter) NC_000006.12:42194633:G:A p.(Arg63Ter) NC_000006.12:42194633:G:A Identity +NM_207361.6:c.2801G>A NP_997244.4:p.Arg934Gln NC_000013.11:38690144:G:A p.(Arg934Gln) NC_000013.11:38690144:G:A p.(Arg934Gln) NC_000013.11:38690144:G:A Identity +NM_001848.3:c.2890C>T NP_001839.2:p.Arg964Trp NC_000021.9:46003815:C:T p.(Arg964Trp) NC_000021.9:46003815:C:T p.(Arg964Trp) NC_000021.9:46003815:C:T Identity +NM_001256850.1:c.86986A>T NP_001243779.1:p.Met28996Leu NC_000002.12:178549812:T:A p.(Met28996Leu) NC_000002.12:178549812:T:A p.(Met28996Leu) NC_000002.12:178549812:T:A Identity +NM_001127487.2:c.7283G>A NP_001120959.1:p.Ser2428Asn NC_000007.14:128856647:G:A p.(Ser2428Asn) NC_000007.14:128856647:G:A p.(Ser2428Asn) NC_000007.14:128856647:G:A Identity +NM_001080463.2:c.5473A>G NP_001073932.1:p.Ile1825Val NC_000011.10:103173219:A:G p.(Ile1825Val) NC_000011.10:103173219:A:G p.(Ile1825Val) NC_000011.10:103173219:A:G Identity +NM_000109.4:c.10570G>A NP_000100.3:p.Glu3524Lys NC_000023.11:31147477:C:T p.(Glu3524Lys) NC_000023.11:31147477:C:T p.(Glu3524Lys) NC_000023.11:31147477:C:T Identity +NM_001370528.1:c.229C>G NP_001357457.1:p.Leu77Val NC_000003.12:64163044:G:C p.(Leu77Val) NC_000003.12:64163044:G:C p.(Leu77Val) NC_000003.12:64163044:G:C Identity +NM_014467.3:c.646G>A NP_055282.1:p.Gly216Ser NC_000023.11:100665355:G:A p.(Gly216Ser) NC_000023.11:100665355:G:A p.(Gly216Ser) NC_000023.11:100665355:G:A Identity +NM_001315529.2:c.6946C>A NP_001302458.1:p.Leu2316Ile NC_000021.9:46425950:C:A p.(Leu2316Ile) NC_000021.9:46425950:C:A p.(Leu2316Ile) NC_000021.9:46425950:C:A Identity +NM_000052.7:c.1955G>A NP_000043.4:p.Arg652Gln NC_000023.11:78011456:G:A p.(Arg652Gln) NC_000023.11:78011456:G:A p.(Arg652Gln) NC_000023.11:78011456:G:A Identity +NM_002427.4:c.287_293del NP_002418.1:p.Cys96fs NC_000011.10:102955320:ACCCCGCA:A p.(Cys96PhefsTer19) NC_000011.10:102955320:ACCCCGCA:A p.(Cys96PhefsTer19) NC_000011.10:102955320:ACCCCGC: Analogous +NM_000070.3:c.1636C>T NP_000061.1:p.Arg546Cys NC_000015.10:42402892:C:T p.(Arg546Cys) NC_000015.10:42402892:C:T p.(Arg546Cys) NC_000015.10:42402892:C:T Identity +NM_001191028.3:c.275C>T NP_001177957.2:p.Thr92Ile NC_000007.14:129018002:G:A p.(Thr92Ile) NC_000007.14:129018002:G:A p.(Thr92Ile) NC_000007.14:129018002:G:A Identity +NM_005045.4:c.10160G>A NP_005036.2:p.Arg3387Lys NC_000007.14:103483673:C:T p.(Arg3387Lys) NC_000007.14:103483673:C:T p.(Arg3387Lys) NC_000007.14:103483673:C:T Identity +NM_001256850.1:c.45346G>A NP_001243779.1:p.Ala15116Thr NC_000002.12:178612141:C:T p.(Ala15116Thr) NC_000002.12:178612141:C:T p.(Ala15116Thr) NC_000002.12:178612141:C:T Identity +NM_001165928.4:c.1690C>A NP_001159400.3:p.Leu564Ile NC_000003.12:49532200:C:A p.(Leu564Ile) NC_000003.12:49532200:C:A p.(Leu564Ile) NC_000003.12:49532200:C:A Identity +NM_001256850.1:c.24154G>T NP_001243779.1:p.Val8052Phe NC_000002.12:178717768:C:A p.(Val8052Phe) NC_000002.12:178717768:C:A p.(Val8052Phe) NC_000002.12:178717768:C:A Identity +NM_033071.5:c.20971A>G NP_149062.2:p.Lys6991Glu NC_000006.12:152230557:T:C p.(Lys6991Glu) NC_000006.12:152230557:T:C p.(Lys6991Glu) NC_000006.12:152230557:T:C Identity +NM_033071.5:c.21109G>A NP_149062.2:p.Gly7037Ser NC_000006.12:152225749:C:T p.(Gly7037Ser) NC_000006.12:152225749:C:T p.(Gly7037Ser) NC_000006.12:152225749:C:T Identity +NM_014141.6:c.2593G>A NP_054860.1:p.Gly865Arg NC_000007.14:148147528:G:A p.(Gly865Arg) NC_000007.14:148147528:G:A p.(Gly865Arg) NC_000007.14:148147528:G:A Identity +NM_004004.6:c.176_191del NP_003995.2:p.Gly59fs NC_000013.11:20189390:CACACGTTCTTGCAGCC:C p.(Gly59AlafsTer18) NC_000013.11:20189390:CACACGTTCTTGCAGCC:C p.(Gly59AlafsTer18) NC_000013.11:20189390:CACACGTTCTTGCAGC: Analogous +NM_000109.4:c.433C>T NP_000100.3:p.Gln145Ter NC_000023.11:32816540:G:A p.(Gln145Ter) NC_000023.11:32816540:G:A p.(Gln145Ter) NC_000023.11:32816540:G:A Identity +NM_001164507.2:c.403G>A NP_001157979.2:p.Val135Ile NC_000002.12:151724960:C:T p.(Val135Ile) NC_000002.12:151724960:C:T p.(Val135Ile) NC_000002.12:151724960:C:T Identity +NM_000023.4:c.80C>T NP_000014.1:p.Thr27Met NC_000017.11:50167409:C:T p.(Thr27Met) NC_000017.11:50167409:C:T p.(Thr27Met) NC_000017.11:50167409:C:T Identity +NM_015295.3:c.4306A>G NP_056110.2:p.Ile1436Val NC_000018.10:2752511:A:G p.(Ile1436Val) NC_000018.10:2752511:A:G p.(Ile1436Val) NC_000018.10:2752511:A:G Identity +NM_000068.4:c.2690G>A NP_000059.3:p.Arg897Gln NC_000019.10:13298954:C:T p.(Arg897Gln) NC_000019.10:13298954:C:T p.(Arg897Gln) NC_000019.10:13298954:C:T Identity +NM_020754.4:c.347C>T NP_065805.2:p.Thr116Met NC_000003.12:119368514:C:T p.(Thr116Met) NC_000003.12:119368514:C:T p.(Thr116Met) NC_000003.12:119368514:C:T Identity +NM_001848.3:c.914G>A NP_001839.2:p.Gly305Glu NC_000021.9:45989761:G:A p.(Gly305Glu) NC_000021.9:45989761:G:A p.(Gly305Glu) NC_000021.9:45989761:G:A Identity +NM_015180.6:c.19754A>T NP_055995.4:p.Asp6585Val NC_000014.9:64219372:A:T p.(Asp6585Val) NC_000014.9:64219372:A:T p.(Asp6585Val) NC_000014.9:64219372:A:T Identity +NM_000152.5:c.841C>T NP_000143.2:p.Arg281Trp NC_000017.11:80107704:C:T p.(Arg281Trp) NC_000017.11:80107704:C:T p.(Arg281Trp) NC_000017.11:80107704:C:T Identity +NM_000232.5:c.346A>G NP_000223.1:p.Met116Val NC_000004.12:52029760:T:C p.(Met116Val) NC_000004.12:52029760:T:C p.(Met116Val) NC_000004.12:52029760:T:C Identity +NM_020366.4:c.968T>C NP_065099.3:p.Leu323Pro NC_000014.9:21311860:T:C p.(Leu323Pro) NC_000014.9:21311860:T:C p.(Leu323Pro) NC_000014.9:21311860:T:C Identity +NM_001170629.2:c.262G>A NP_001164100.1:p.Glu88Lys NC_000014.9:21431381:C:T p.(Glu88Lys) NC_000014.9:21431381:C:T p.(Glu88Lys) NC_000014.9:21431381:C:T Identity +NM_033071.5:c.5413G>C NP_149062.2:p.Asp1805His NC_000006.12:152419597:C:G p.(Asp1805His) NC_000006.12:152419597:C:G p.(Asp1805His) NC_000006.12:152419597:C:G Identity +NM_000109.4:c.4283C>A NP_000100.3:p.Ala1428Asp NC_000023.11:32390107:G:T p.(Ala1428Asp) NC_000023.11:32390107:G:T p.(Ala1428Asp) NC_000023.11:32390107:G:T Identity +NM_153704.6:c.370G>A NP_714915.3:p.Glu124Lys NC_000008.11:93758539:G:A p.(Glu124Lys) NC_000008.11:93758539:G:A p.(Glu124Lys) NC_000008.11:93758539:G:A Identity +NM_000109.4:c.6369_6370insCA NP_000100.3:p.Ile2124fs NC_000023.11:32216960:T:TGT p.(Ile2124GlnfsTer32) NC_000023.11:32216959:T:TG p.(Ile2124GlnfsTer32) NC_000023.11:32216960:TT:TG Analogous +NM_001142649.2:c.2001del NP_001136121.1:p.Leu668fs NC_000011.10:22270414:GGG:GG p.(Leu668PhefsTer6) NC_000011.10:22270414:GGG:GG p.(Leu668PhefsTer6) NC_000011.10:22270416:G: Analogous +NM_000383.4:c.1066C>T NP_000374.1:p.Arg356Trp NC_000021.9:44292371:C:T p.(Arg356Trp) NC_000021.9:44292371:C:T p.(Arg356Trp) NC_000021.9:44292371:C:T Identity +NM_001135659.3:c.2369G>A NP_001129131.1:p.Arg790His NC_000002.12:50531324:C:T p.(Arg790His) NC_000002.12:50531324:C:T p.(Arg790His) NC_000002.12:50531324:C:T Identity +NM_000274.4:c.352A>T NP_000265.1:p.Asn118Tyr NC_000010.11:124408812:T:A p.(Asn118Tyr) NC_000010.11:124408812:T:A p.(Asn118Tyr) NC_000010.11:124408812:T:A Identity +NM_001130977.2:c.4378G>A NP_001124449.1:p.Gly1460Ser NC_000002.12:71620555:G:A p.(Gly1460Ser) NC_000002.12:71620555:G:A p.(Gly1460Ser) NC_000002.12:71620555:G:A Identity +NM_000109.4:c.5751G>T NP_000100.3:p.Glu1917Asp NC_000023.11:32342246:C:A p.(Glu1917Asp) NC_000023.11:32342246:C:A p.(Glu1917Asp) NC_000023.11:32342246:C:A Identity +NM_017433.5:c.3447_3448del NP_059129.3:p.Arg1150fs NC_000010.11:26173709:AAA:A p.(Arg1150IlefsTer7) NC_000010.11:26173709:AAA:A p.(Arg1150IlefsTer7) NC_000010.11:26173710:AA: Analogous +NM_015295.3:c.5006G>A NP_056110.2:p.Arg1669Gln NC_000018.10:2771571:G:A p.(Arg1669Gln) NC_000018.10:2771571:G:A p.(Arg1669Gln) NC_000018.10:2771571:G:A Identity +NM_001198879.2:c.2125C>T NP_001185808.1:p.Gln709Ter NC_000007.14:99420091:G:A p.(Gln709Ter) NC_000007.14:99420091:G:A p.(Gln709Ter) NC_000007.14:99420091:G:A Identity +NM_032634.4:c.1810dup NP_116023.2:p.Arg604fs NC_000009.12:35092076:GGGG:GGGGG p.(Arg604ProfsTer40) NC_000009.12:35092076:GGGG:GGGGG p.(Arg604ProfsTer40) ERR:SPDI Analogous +NM_000900.5:c.304A>G NP_000891.2:p.Thr102Ala NC_000012.12:14882146:T:C p.(Thr102Ala) NC_000012.12:14882146:T:C p.(Thr102Ala) NC_000012.12:14882146:T:C Identity +NM_206933.4:c.7573C>A NP_996816.3:p.Pro2525Thr NC_000001.11:215900095:G:T p.(Pro2525Thr) NC_000001.11:215900095:G:T p.(Pro2525Thr) NC_000001.11:215900095:G:T Identity +NM_001849.4:c.1012C>T NP_001840.3:p.Arg338Cys NC_000021.9:46117411:C:T p.(Arg338Cys) NC_000021.9:46117411:C:T p.(Arg338Cys) NC_000021.9:46117411:C:T Identity +NM_001130455.2:c.5150A>T NP_001123927.1:p.Tyr1717Phe NC_000002.12:71665250:A:T p.(Tyr1717Phe) NC_000002.12:71665250:A:T p.(Tyr1717Phe) NC_000002.12:71665250:A:T Identity +NM_000751.3:c.1220G>A NP_000742.1:p.Arg407Gln NC_000002.12:232534102:G:A p.(Arg407Gln) NC_000002.12:232534102:G:A p.(Arg407Gln) NC_000002.12:232534102:G:A Identity +NM_001099922.3:c.1064A>G NP_001093392.1:p.Gln355Arg NC_000023.11:111717903:A:G p.(Gln355Arg) NC_000023.11:111717903:A:G p.(Gln355Arg) NC_000023.11:111717903:A:G Identity +NM_182894.3:c.244G>A NP_878314.1:p.Gly82Arg NC_000014.9:74239804:G:A p.(Gly82Arg) NC_000014.9:74239804:G:A p.(Gly82Arg) NC_000014.9:74239804:G:A Identity +NM_001130455.2:c.5521G>A NP_001123927.1:p.Val1841Met NC_000002.12:71669199:G:A p.(Val1841Met) NC_000002.12:71669199:G:A p.(Val1841Met) NC_000002.12:71669199:G:A Identity +NM_001324192.1:c.310G>T NP_001311121.1:p.Glu104Ter NC_000020.11:3889409:G:T p.(Glu104Ter) NC_000020.11:3889409:G:T p.(Glu104Ter) NC_000020.11:3889409:G:T Identity +NM_000104.4:c.415G>A NP_000095.2:p.Glu139Lys NC_000002.12:38074973:C:T p.(Glu139Lys) NC_000002.12:38074973:C:T p.(Glu139Lys) NC_000002.12:38074973:C:T Identity +NM_001193640.2:c.2473G>A NP_001180569.1:p.Ala825Thr NC_000001.11:197429580:G:A p.(Ala825Thr) NC_000001.11:197429580:G:A p.(Ala825Thr) NC_000001.11:197429580:G:A Identity +NM_033071.5:c.1175T>C NP_149062.2:p.Val392Ala NC_000006.12:152484865:A:G p.(Val392Ala) NC_000006.12:152484865:A:G p.(Val392Ala) NC_000006.12:152484865:A:G Identity +NM_000089.4:c.808G>A NP_000080.2:p.Val270Ile NC_000007.14:94409336:G:A p.(Val270Ile) NC_000007.14:94409336:G:A p.(Val270Ile) NC_000007.14:94409336:G:A Identity +NM_206933.4:c.12455A>G NP_996816.3:p.Glu4152Gly NC_000001.11:215675455:T:C p.(Glu4152Gly) NC_000001.11:215675455:T:C p.(Glu4152Gly) NC_000001.11:215675455:T:C Identity +NM_000109.4:c.3817T>C NP_000100.3:p.Trp1273Arg NC_000023.11:32441259:A:G p.(Trp1273Arg) NC_000023.11:32441259:A:G p.(Trp1273Arg) NC_000023.11:32441259:A:G Identity +NM_000117.3:c.149C>A NP_000108.1:p.Pro50His NC_000023.11:154379755:C:A p.(Pro50His) NC_000023.11:154379755:C:A p.(Pro50His) NC_000023.11:154379755:C:A Identity +NM_001692.4:c.196G>A NP_001683.2:p.Val66Ile NC_000002.12:70958066:G:A p.(Val66Ile) NC_000002.12:70958066:G:A p.(Val66Ile) NC_000002.12:70958066:G:A Identity +NM_003331.5:c.2783C>T NP_003322.3:p.Ala928Val NC_000019.10:10354166:G:A p.(Ala928Val) NC_000019.10:10354166:G:A p.(Ala928Val) NC_000019.10:10354166:G:A Identity +NM_001160210.2:c.235G>A NP_001153682.1:p.Val79Ile NC_000007.14:96234894:C:T p.(Val79Ile) NC_000007.14:96234894:C:T p.(Val79Ile) NC_000007.14:96234894:C:T Identity +NM_025114.4:c.6193A>G NP_079390.3:p.Asn2065Asp NC_000012.12:88064057:T:C p.(Asn2065Asp) NC_000012.12:88064057:T:C p.(Asn2065Asp) NC_000012.12:88064057:T:C Identity +NM_130832.3:c.496_497del NP_570845.1:p.Leu166fs NC_000003.12:193617830:TT: p.(Leu166ValfsTer10) NC_000003.12:193617830:TT: p.(Leu166ValfsTer10) NC_000003.12:193617830:TT: Analogous +NM_025074.7:c.11683G>A NP_079350.5:p.Val3895Ile NC_000004.12:78540767:G:A p.(Val3895Ile) NC_000004.12:78540767:G:A p.(Val3895Ile) NC_000004.12:78540767:G:A Identity +NM_001305581.2:c.256C>T NP_001292510.1:p.Arg86Ter NC_000010.11:76036131:C:T p.(Arg86Ter) NC_000010.11:76036131:C:T p.(Arg86Ter) NC_000010.11:76036131:C:T Identity +NM_004369.4:c.1394G>A NP_004360.2:p.Arg465Gln NC_000002.12:237381417:C:T p.(Arg465Gln) NC_000002.12:237381417:C:T p.(Arg465Gln) NC_000002.12:237381417:C:T Identity +NM_000486.6:c.763C>T NP_000477.1:p.Gln255Ter NC_000012.12:49955554:C:T p.(Gln255Ter) NC_000012.12:49955554:C:T p.(Gln255Ter) NC_000012.12:49955554:C:T Identity +NM_001291902.2:c.2741C>T NP_001278831.1:p.Pro914Leu NC_000011.10:68439911:C:T p.(Pro914Leu) NC_000011.10:68439911:C:T p.(Pro914Leu) NC_000011.10:68439911:C:T Identity +NM_032119.4:c.12176C>T NP_115495.3:p.Thr4059Met NC_000005.10:90763359:C:T p.(Thr4059Met) NC_000005.10:90763359:C:T p.(Thr4059Met) NC_000005.10:90763359:C:T Identity +LRG_1199t1:c.3305C>G LRG_1199p1:p.Ser1102Trp NC_000002.12:168930770:G:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_033071.5:c.19321G>T NP_149062.2:p.Ala6441Ser NC_000006.12:152249198:C:A p.(Ala6441Ser) NC_000006.12:152249198:C:A p.(Ala6441Ser) NC_000006.12:152249198:C:A Identity +NM_001142805.2:c.1486G>A NP_001136277.1:p.Asp496Asn NC_000023.11:153694552:G:A p.(Asp496Asn) NC_000023.11:153694552:G:A p.(Asp496Asn) NC_000023.11:153694552:G:A Identity +NM_001005360.3:c.1676A>G NP_001005360.1:p.Lys559Arg NC_000019.10:10819983:A:G p.(Lys559Arg) NC_000019.10:10819983:A:G p.(Lys559Arg) NC_000019.10:10819983:A:G Identity +NM_001130455.2:c.1868A>C NP_001123927.1:p.Asn623Thr NC_000002.12:71553122:A:C p.(Asn623Thr) NC_000002.12:71553122:A:C p.(Asn623Thr) NC_000002.12:71553122:A:C Identity +NM_000023.4:c.764C>T NP_000014.1:p.Pro255Leu NC_000017.11:50170158:C:T p.(Pro255Leu) NC_000017.11:50170158:C:T p.(Pro255Leu) NC_000017.11:50170158:C:T Identity +NM_000070.3:c.868A>T NP_000061.1:p.Met290Leu NC_000015.10:42390018:A:T p.(Met290Leu) NC_000015.10:42390018:A:T p.(Met290Leu) NC_000015.10:42390018:A:T Identity +NM_173602.3:c.2755C>A NP_775873.2:p.Gln919Lys NC_000012.12:50714499:C:A p.(Gln919Lys) NC_000012.12:50714499:C:A p.(Gln919Lys) NC_000012.12:50714499:C:A Identity +NM_000109.4:c.151_155dup NP_000100.3:p.Lys53fs NC_000023.11:32849734:TGCCCTG:TGCCCTGCCCTG p.(Lys53GlyfsTer16) NC_000023.11:32849734:TGCCCTG:TGCCCTGCCCTG p.(Lys53GlyfsTer16) ERR:SPDI Analogous +NM_001037343.2:c.212del NP_001032420.1:p.Asn71fs NC_000023.11:18575416:AAAA:AAA p.(Asn71ThrfsTer5) NC_000023.11:18575416:AAAA:AAA p.(Asn71ThrfsTer5) NC_000023.11:18575419:A: Analogous +NM_206933.4:c.5410A>G NP_996816.3:p.Ile1804Val NC_000001.11:216078250:T:C p.(Ile1804Val) NC_000001.11:216078250:T:C p.(Ile1804Val) NC_000001.11:216078250:T:C Identity +NM_001291860.2:c.9238G>A NP_001278789.1:p.Val3080Met NC_000001.11:21841631:C:T p.(Val3080Met) NC_000001.11:21841631:C:T p.(Val3080Met) NC_000001.11:21841631:C:T Identity +NM_000109.4:c.9914G>A NP_000100.3:p.Cys3305Tyr NC_000023.11:31182773:C:T p.(Cys3305Tyr) NC_000023.11:31182773:C:T p.(Cys3305Tyr) NC_000023.11:31182773:C:T Identity +NM_001042702.5:c.49G>A NP_001036167.1:p.Gly17Arg NC_000002.12:178453457:G:A p.(Gly17Arg) NC_000002.12:178453457:G:A p.(Gly17Arg) NC_000002.12:178453457:G:A Identity +NM_024577.4:c.238G>A NP_078853.2:p.Ala80Thr NC_000005.10:149047902:C:T p.(Ala80Thr) NC_000005.10:149047902:C:T p.(Ala80Thr) NC_000005.10:149047902:C:T Identity +NM_000466.3:c.1627G>A NP_000457.1:p.Glu543Lys NC_000007.14:92509371:C:T p.(Glu543Lys) NC_000007.14:92509371:C:T p.(Glu543Lys) NC_000007.14:92509371:C:T Identity +NM_001128227.3:c.804G>C NP_001121699.1:p.Leu268Phe NC_000009.12:36236889:C:G p.(Leu268Phe) NC_000009.12:36236889:C:G p.(Leu268Phe) NC_000009.12:36236889:C:G Identity +NM_002180.3:c.2818G>A NP_002171.2:p.Ala940Thr NC_000011.10:68939566:G:A p.(Ala940Thr) NC_000011.10:68939566:G:A p.(Ala940Thr) NC_000011.10:68939566:G:A Identity +NM_012463.4:c.78dup NP_036595.2:p.Ser27fs NC_000012.12:123712642:C:CC p.(Ser27GlnfsTer28) NC_000012.12:123712642:C:CC p.(Ser27GlnfsTer28) ERR:SPDI Analogous +NM_001357321.2:c.1093A>G NP_001344250.1:p.Thr365Ala NC_000002.12:43872103:A:G p.(Thr365Ala) NC_000002.12:43872103:A:G p.(Thr365Ala) NC_000002.12:43872103:A:G Identity +NM_001042663.3:c.2938G>C NP_001036128.2:p.Gly980Arg NC_000001.11:6468008:C:G p.(Gly980Arg) NC_000001.11:6468008:C:G p.(Gly980Arg) NC_000001.11:6468008:C:G Identity +NM_001077186.2:c.2333C>T NP_001070654.1:p.Ala778Val NC_000019.10:50261481:C:T p.(Ala778Val) NC_000019.10:50261481:C:T p.(Ala778Val) NC_000019.10:50261481:C:T Identity +NM_000152.5:c.1637G>T NP_000143.2:p.Gly546Val NC_000017.11:80111982:G:T p.(Gly546Val) NC_000017.11:80111982:G:T p.(Gly546Val) NC_000017.11:80111982:G:T Identity +NM_001017995.3:c.1102del NP_001017995.1:p.Gln368fs NC_000005.10:172346221:GGGG:GGG p.(Gln368LysfsTer26) NC_000005.10:172346221:GGGG:GGG p.(Gln368LysfsTer26) NC_000005.10:172346221:G: Analogous +NM_001382361.1:c.1918C>T NP_001369290.1:p.Arg640Trp NC_000011.10:64223417:C:T p.(Arg640Trp) NC_000011.10:64223417:C:T p.(Arg640Trp) NC_000011.10:64223417:C:T Identity +NM_001128227.3:c.326G>A NP_001121699.1:p.Gly109Glu NC_000009.12:36246413:C:T p.(Gly109Glu) NC_000009.12:36246413:C:T p.(Gly109Glu) NC_000009.12:36246413:C:T Identity +NM_001848.3:c.2611G>A NP_001839.2:p.Val871Met NC_000021.9:46003536:G:A p.(Val871Met) NC_000021.9:46003536:G:A p.(Val871Met) NC_000021.9:46003536:G:A Identity +NM_001257374.3:c.866G>A NP_001244303.1:p.Arg289His NC_000001.11:156136257:G:A p.(Arg289His) NC_000001.11:156136257:G:A p.(Arg289His) NC_000001.11:156136257:G:A Identity +NM_001130455.2:c.2351C>T NP_001123927.1:p.Ala784Val NC_000002.12:71561936:C:T p.(Ala784Val) NC_000002.12:71561936:C:T p.(Ala784Val) NC_000002.12:71561936:C:T Identity +NM_001030311.3:c.191G>A NP_001025482.1:p.Ser64Asn NC_000002.12:181656815:C:T p.(Ser64Asn) NC_000002.12:181656815:C:T p.(Ser64Asn) NC_000002.12:181656815:C:T Identity +NM_001291593.2:c.919C>T NP_001278522.1:p.Arg307Trp NC_000001.11:5887312:G:A p.(Arg307Trp) NC_000001.11:5887312:G:A p.(Arg307Trp) NC_000001.11:5887312:G:A Identity +NM_001317924.2:c.2191C>T NP_001304853.1:p.His731Tyr NC_000004.12:39245393:C:T p.(His731Tyr) NC_000004.12:39245393:C:T p.(His731Tyr) NC_000004.12:39245393:C:T Identity +NM_020754.4:c.4121C>T NP_065805.2:p.Ser1374Phe NC_000003.12:119416049:C:T p.(Ser1374Phe) NC_000003.12:119416049:C:T p.(Ser1374Phe) NC_000003.12:119416049:C:T Identity +NM_015192.4:c.3635T>G NP_056007.1:p.Phe1212Cys NC_000020.11:8881832:T:G p.(Phe1212Cys) NC_000020.11:8881832:T:G p.(Phe1212Cys) NC_000020.11:8881832:T:G Identity +NM_000319.5:c.547C>T NP_000310.2:p.Arg183Cys NC_000012.12:7199108:C:T p.(Arg183Cys) NC_000012.12:7199108:C:T p.(Arg183Cys) NC_000012.12:7199108:C:T Identity +NM_001453.3:c.290dup NP_001444.2:p.Lys98fs NC_000006.12:1610733:AA:AAA p.(Lys98GlufsTer208) NC_000006.12:1610733:AA:AAA p.(Lys98GlufsTer208) ERR:SPDI Analogous +NM_001142763.2:c.4309G>C NP_001136235.1:p.Val1437Leu NC_000010.11:53827465:C:G p.(Val1437Leu) NC_000010.11:53827465:C:G p.(Val1437Leu) NC_000010.11:53827465:C:G Identity +NM_001330358.2:c.976G>A NP_001317287.1:p.Glu326Lys NC_000001.11:11795275:C:T p.(Glu326Lys) NC_000001.11:11795275:C:T p.(Glu326Lys) NC_000001.11:11795275:C:T Identity +NM_000124.4:c.2096C>T NP_000115.1:p.Thr699Met NC_000010.11:49482759:G:A p.(Thr699Met) NC_000010.11:49482759:G:A p.(Thr699Met) NC_000010.11:49482759:G:A Identity +NM_001291593.2:c.1906C>T NP_001278522.1:p.Arg636Cys NC_000001.11:5867766:G:A p.(Arg636Cys) NC_000001.11:5867766:G:A p.(Arg636Cys) NC_000001.11:5867766:G:A Identity +NM_000319.5:c.1267C>T NP_000310.2:p.Arg423Trp NC_000012.12:7208565:C:T p.(Arg423Trp) NC_000012.12:7208565:C:T p.(Arg423Trp) NC_000012.12:7208565:C:T Identity +NM_001291860.2:c.8339G>A NP_001278789.1:p.Arg2780Gln NC_000001.11:21846235:C:T p.(Arg2780Gln) NC_000001.11:21846235:C:T p.(Arg2780Gln) NC_000001.11:21846235:C:T Identity +NM_000702.4:c.1410C>G NP_000693.1:p.Asp470Glu NC_000001.11:160129348:C:G p.(Asp470Glu) NC_000001.11:160129348:C:G p.(Asp470Glu) NC_000001.11:160129348:C:G Identity +NM_000297.4:c.784G>A NP_000288.1:p.Val262Met NC_000004.12:88036293:G:A p.(Val262Met) NC_000004.12:88036293:G:A p.(Val262Met) NC_000004.12:88036293:G:A Identity +NM_000028.3:c.3884G>A NP_000019.2:p.Arg1295His NC_000001.11:99912451:G:A p.(Arg1295His) NC_000001.11:99912451:G:A p.(Arg1295His) NC_000001.11:99912451:G:A Identity +NM_017950.4:c.2968G>A NP_060420.2:p.Asp990Asn NC_000017.11:80095397:G:A p.(Asp990Asn) NC_000017.11:80095397:G:A p.(Asp990Asn) NC_000017.11:80095397:G:A Identity +NM_001256850.1:c.26641C>G NP_001243779.1:p.Gln8881Glu NC_000002.12:178712329:G:C p.(Gln8881Glu) NC_000002.12:178712329:G:C p.(Gln8881Glu) NC_000002.12:178712329:G:C Identity +NM_001077186.2:c.1436C>A NP_001070654.1:p.Ala479Asp NC_000019.10:50249092:C:A p.(Ala479Asp) NC_000019.10:50249092:C:A p.(Ala479Asp) NC_000019.10:50249092:C:A Identity +NM_001252020.2:c.3121A>T NP_001238949.1:p.Ile1041Phe NC_000015.10:31031039:T:A p.(Ile1041Phe) NC_000015.10:31031039:T:A p.(Ile1041Phe) NC_000015.10:31031039:T:A Identity +NM_001037343.2:c.1108_1109dup NP_001032420.1:p.Asn370fs NC_000023.11:18604030:AAA:AAAAA p.(Asn370LysfsTer124) NC_000023.11:18604030:AAA:AAAAA p.(Asn370LysfsTer124) ERR:SPDI Analogous +NM_147191.1:c.1203G>A NP_671724.1:p.Trp401Ter NC_000010.11:125770367:C:T p.(Trp401Ter) NC_000010.11:125770367:C:T p.(Trp401Ter) NC_000010.11:125770367:C:T Identity +NM_004525.3:c.10538C>A NP_004516.2:p.Ser3513Tyr NC_000002.12:169176443:G:T p.(Ser3513Tyr) NC_000002.12:169176443:G:T p.(Ser3513Tyr) NC_000002.12:169176443:G:T Identity +NM_173630.4:c.1676A>C NP_775901.3:p.Asp559Ala NC_000018.10:70168867:T:G p.(Asp559Ala) NC_000018.10:70168867:T:G p.(Asp559Ala) NC_000018.10:70168867:T:G Identity +NM_004369.4:c.6040G>T NP_004360.2:p.Asp2014Tyr NC_000002.12:237363275:C:A p.(Asp2014Tyr) NC_000002.12:237363275:C:A p.(Asp2014Tyr) NC_000002.12:237363275:C:A Identity +NM_001127610.2:c.1120G>A NP_001121082.1:p.Ala374Thr NC_000009.12:101362564:C:T p.(Ala374Thr) NC_000009.12:101362564:C:T p.(Ala374Thr) NC_000009.12:101362564:C:T Identity +NM_205850.3:c.1442T>C NP_995322.1:p.Leu481Ser NC_000015.10:48142289:T:C p.(Leu481Ser) NC_000015.10:48142289:T:C p.(Leu481Ser) NC_000015.10:48142289:T:C Identity +NM_000271.5:c.2872C>T NP_000262.2:p.Arg958Ter NC_000018.10:23539393:G:A p.(Arg958Ter) NC_000018.10:23539393:G:A p.(Arg958Ter) NC_000018.10:23539393:G:A Identity +NM_001190907.2:c.558A>C NP_001177836.1:p.Lys186Asn NC_000007.14:138105407:A:C p.(Lys186Asn) NC_000007.14:138105407:A:C p.(Lys186Asn) NC_000007.14:138105407:A:C Identity +NM_001256850.1:c.15127A>G NP_001243779.1:p.Thr5043Ala NC_000002.12:178733097:T:C p.(Thr5043Ala) NC_000002.12:178733097:T:C p.(Thr5043Ala) NC_000002.12:178733097:T:C Identity +NM_001234.5:c.400G>A NP_001225.1:p.Ala134Thr NC_000003.12:8745810:G:A p.(Ala134Thr) NC_000003.12:8745810:G:A p.(Ala134Thr) NC_000003.12:8745810:G:A Identity +NM_207391.3:c.311C>T NP_997274.2:p.Pro104Leu NC_000019.10:32676573:C:T p.(Pro104Leu) NC_000019.10:32676573:C:T p.(Pro104Leu) NC_000019.10:32676573:C:T Identity +NM_000458.4:c.884G>A NP_000449.1:p.Arg295His NC_000017.11:37731755:C:T p.(Arg295His) NC_000017.11:37731755:C:T p.(Arg295His) NC_000017.11:37731755:C:T Identity +NM_001844.5:c.2638G>A NP_001835.3:p.Val880Met NC_000012.12:47980049:C:T p.(Val880Met) NC_000012.12:47980049:C:T p.(Val880Met) NC_000012.12:47980049:C:T Identity +NM_006261.5:c.52G>A NP_006252.4:p.Gly18Ser NC_000005.10:177995881:C:T p.(Gly18Ser) NC_000005.10:177995881:C:T p.(Gly18Ser) NC_000005.10:177995881:C:T Identity +NM_001330677.2:c.1325G>A NP_001317606.1:p.Arg442Lys NC_000001.11:118885215:C:T p.(Arg442Lys) NC_000001.11:118885215:C:T p.(Arg442Lys) NC_000001.11:118885215:C:T Identity +NM_001256850.1:c.44380G>A NP_001243779.1:p.Glu14794Lys NC_000002.12:178614093:C:T p.(Glu14794Lys) NC_000002.12:178614093:C:T p.(Glu14794Lys) NC_000002.12:178614093:C:T Identity +NM_024408.4:c.5218C>A NP_077719.2:p.Leu1740Ile NC_000001.11:119921804:G:T p.(Leu1740Ile) NC_000001.11:119921804:G:T p.(Leu1740Ile) NC_000001.11:119921804:G:T Identity +NM_001374425.1:c.290_291inv NP_001361354.1:p.Thr97Met NC_000001.11:2408760:TG:CA p.(Thr97Met) NC_000001.11:2408760:TG:CA p.(Thr97Met) ERR:SPDI Identity +NM_000466.3:c.3031G>A NP_000457.1:p.Val1011Met NC_000007.14:92493128:C:T p.(Val1011Met) NC_000007.14:92493128:C:T p.(Val1011Met) NC_000007.14:92493128:C:T Identity +NM_004369.4:c.8744C>T NP_004360.2:p.Ala2915Val NC_000002.12:237336355:G:A p.(Ala2915Val) NC_000002.12:237336355:G:A p.(Ala2915Val) NC_000002.12:237336355:G:A Identity +NM_001166133.2:c.3058C>T NP_001159605.1:p.Arg1020Cys NC_000004.12:78374157:C:T p.(Arg1020Cys) NC_000004.12:78374157:C:T p.(Arg1020Cys) NC_000004.12:78374157:C:T Identity +NM_001365684.2:c.4148G>C NP_001352613.2:p.Cys1383Ser NC_000005.10:177260042:G:C p.(Cys1383Ser) NC_000005.10:177260042:G:C p.(Cys1383Ser) NC_000005.10:177260042:G:C Identity +NM_000028.3:c.334A>G NP_000019.2:p.Ile112Val NC_000001.11:99862296:A:G p.(Ile112Val) NC_000001.11:99862296:A:G p.(Ile112Val) NC_000001.11:99862296:A:G Identity +NM_001190709.2:c.3112C>A NP_001177638.1:p.Pro1038Thr NC_000001.11:102946895:G:T p.(Pro1038Thr) NC_000001.11:102946895:G:T p.(Pro1038Thr) NC_000001.11:102946895:G:T Identity +NM_033071.5:c.19856C>T NP_149062.2:p.Thr6619Met NC_000006.12:152236946:G:A p.(Thr6619Met) NC_000006.12:152236946:G:A p.(Thr6619Met) NC_000006.12:152236946:G:A Identity +NM_001324112.2:c.530C>T NP_001311041.1:p.Thr177Met NC_000008.11:64616010:G:A p.(Thr177Met) NC_000008.11:64616010:G:A p.(Thr177Met) NC_000008.11:64616010:G:A Identity +NM_004369.4:c.6769G>A NP_004360.2:p.Ala2257Thr NC_000002.12:237351176:C:T p.(Ala2257Thr) NC_000002.12:237351176:C:T p.(Ala2257Thr) NC_000002.12:237351176:C:T Identity +NM_000152.5:c.913G>A NP_000143.2:p.Gly305Arg NC_000017.11:80107853:G:A p.(Gly305Arg) NC_000017.11:80107853:G:A p.(Gly305Arg) NC_000017.11:80107853:G:A Identity +NM_001232.4:c.1120G>A NP_001223.2:p.Asp374Asn NC_000001.11:115701320:C:T p.(Asp374Asn) NC_000001.11:115701320:C:T p.(Asp374Asn) NC_000001.11:115701320:C:T Identity +NM_001007792.1:c.541G>A NP_001007793.1:p.Val181Met NC_000001.11:156868560:G:A p.(Val181Met) NC_000001.11:156868560:G:A p.(Val181Met) NC_000001.11:156868560:G:A Identity +NM_025193.4:c.586G>A NP_079469.2:p.Gly196Ser NC_000016.10:30986893:G:A p.(Gly196Ser) NC_000016.10:30986893:G:A p.(Gly196Ser) NC_000016.10:30986893:G:A Identity +NM_000089.4:c.3793T>C NP_000080.2:p.Ser1265Pro NC_000007.14:94429268:T:C p.(Ser1265Pro) NC_000007.14:94429268:T:C p.(Ser1265Pro) NC_000007.14:94429268:T:C Identity +NM_001166159.2:c.1364C>A NP_001159631.1:p.Pro455His NC_000001.11:161213930:C:A p.(Pro455His) NC_000001.11:161213930:C:A p.(Pro455His) NC_000001.11:161213930:C:A Identity +NM_000152.5:c.952A>T NP_000143.2:p.Met318Leu NC_000017.11:80107892:A:T p.(Met318Leu) NC_000017.11:80107892:A:T p.(Met318Leu) NC_000017.11:80107892:A:T Identity +NM_001164507.2:c.10860C>A NP_001157979.2:p.Asp3620Glu NC_000002.12:151619462:G:T p.(Asp3620Glu) NC_000002.12:151619462:G:T p.(Asp3620Glu) NC_000002.12:151619462:G:T Identity +NM_000440.3:c.1349T>C NP_000431.2:p.Phe450Ser NC_000005.10:149898420:A:G p.(Phe450Ser) NC_000005.10:149898420:A:G p.(Phe450Ser) NC_000005.10:149898420:A:G Identity +NM_001845.6:c.3776C>G NP_001836.3:p.Pro1259Arg NC_000013.11:110169728:G:C p.(Pro1259Arg) NC_000013.11:110169728:G:C p.(Pro1259Arg) NC_000013.11:110169728:G:C Identity +NM_000935.3:c.934C>A NP_000926.2:p.Pro312Thr NC_000003.12:146088656:G:T p.(Pro312Thr) NC_000003.12:146088656:G:T p.(Pro312Thr) NC_000003.12:146088656:G:T Identity +LRG_1208t1:c.650A>C LRG_1208p1:p.Tyr217Ser NC_000010.11:99797113:A:C ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_000314.8:c.827del NP_000305.3:p.Asn276fs NC_000010.11:87960916:AAA:AA p.(Asn276IlefsTer15) NC_000010.11:87960916:AAA:AA p.(Asn276IlefsTer15) NC_000010.11:87960918:A: Analogous +NM_003000.3:c.47C>G NP_002991.2:p.Thr16Arg NC_000001.11:17053972:G:C p.(Thr16Arg) NC_000001.11:17053972:G:C p.(Thr16Arg) NC_000001.11:17053972:G:C Identity +NM_001159699.2:c.494_496del NP_001153171.1:p.Tyr165del NC_000023.11:136207903:CTACT:CT p.(Tyr165del) NC_000023.11:136207903:CTACT:CT p.(Tyr165del) NC_000023.11:136207905:ACT: Identity +NM_000232.5:c.758A>G NP_000223.1:p.Asn253Ser NC_000004.12:52024155:T:C p.(Asn253Ser) NC_000004.12:52024155:T:C p.(Asn253Ser) NC_000004.12:52024155:T:C Identity +NM_001848.3:c.932G>A NP_001839.2:p.Gly311Asp NC_000021.9:45990258:G:A p.(Gly311Asp) NC_000021.9:45990258:G:A p.(Gly311Asp) NC_000021.9:45990258:G:A Identity +NM_000023.4:c.614C>A NP_000014.1:p.Pro205His NC_000017.11:50169120:C:A p.(Pro205His) NC_000017.11:50169120:C:A p.(Pro205His) NC_000017.11:50169120:C:A Identity +NM_001200001.2:c.956A>G NP_001186930.1:p.Asn319Ser NC_000001.11:119969662:T:C p.(Asn319Ser) NC_000001.11:119969662:T:C p.(Asn319Ser) NC_000001.11:119969662:T:C Identity +NM_001039550.2:c.808G>C NP_001034639.1:p.Gly270Arg NC_000002.12:219284819:G:C p.(Gly270Arg) NC_000002.12:219284819:G:C p.(Gly270Arg) NC_000002.12:219284819:G:C Identity +NM_001161504.2:c.982T>C NP_001154976.1:p.Phe328Leu NC_000001.11:18877230:A:G p.(Phe328Leu) NC_000001.11:18877230:A:G p.(Phe328Leu) NC_000001.11:18877230:A:G Identity +NM_001256125.2:c.1252T>C NP_001243054.2:p.Phe418Leu NC_000001.11:203216980:A:G p.(Phe418Leu) NC_000001.11:203216980:A:G p.(Phe418Leu) NC_000001.11:203216980:A:G Identity +NM_001844.5:c.297del NP_001835.3:p.Gln99fs NC_000012.12:47998426:TT:T p.(Gln99HisfsTer18) NC_000012.12:47998426:TT:T p.(Gln99HisfsTer18) NC_000012.12:47998426:T: Analogous +NM_015295.3:c.4879dup NP_056110.2:p.Thr1627fs NC_000018.10:2770020:A:AA p.(Thr1627AsnfsTer15) NC_000018.10:2770020:A:AA p.(Thr1627AsnfsTer15) ERR:SPDI Analogous +NM_000303.3:c.389C>G NP_000294.1:p.Ser130Cys NC_000016.10:8811119:C:G p.(Ser130Cys) NC_000016.10:8811119:C:G p.(Ser130Cys) NC_000016.10:8811119:C:G Identity +NM_001256850.1:c.15139C>T NP_001243779.1:p.Arg5047Cys NC_000002.12:178733085:G:A p.(Arg5047Cys) NC_000002.12:178733085:G:A p.(Arg5047Cys) NC_000002.12:178733085:G:A Identity +NM_001018837.2:c.430T>C NP_001018238.1:p.Ser144Pro NC_000001.11:154275170:T:C p.(Ser144Pro) NC_000001.11:154275170:T:C p.(Ser144Pro) NC_000001.11:154275170:T:C Identity +NM_007272.3:c.736C>T NP_009203.2:p.Arg246Cys NC_000001.11:15445692:C:T p.(Arg246Cys) NC_000001.11:15445692:C:T p.(Arg246Cys) NC_000001.11:15445692:C:T Identity +NM_003126.4:c.1817A>G NP_003117.2:p.Asp606Gly NC_000001.11:158669423:T:C p.(Asp606Gly) NC_000001.11:158669423:T:C p.(Asp606Gly) NC_000001.11:158669423:T:C Identity +NM_001329090.2:c.668C>T NP_001316019.1:p.Ser223Leu NC_000001.11:16138423:G:A p.(Ser223Leu) NC_000001.11:16138423:G:A p.(Ser223Leu) NC_000001.11:16138423:G:A Identity +NM_006996.3:c.212A>G NP_008927.1:p.Asn71Ser NC_000001.11:169477749:T:C p.(Asn71Ser) NC_000001.11:169477749:T:C p.(Asn71Ser) NC_000001.11:169477749:T:C Identity +NM_000228.3:c.1592G>T NP_000219.2:p.Cys531Phe NC_000001.11:209626871:C:A p.(Cys531Phe) NC_000001.11:209626871:C:A p.(Cys531Phe) NC_000001.11:209626871:C:A Identity +NM_000228.3:c.978del NP_000219.2:p.Phe327fs NC_000001.11:209629890:G: p.(Phe327LeufsTer69) NC_000001.11:209629890:G: p.(Phe327LeufsTer69) NC_000001.11:209629890:G: Analogous +NM_014053.4:c.385A>G NP_054772.1:p.Ser129Gly NC_000001.11:212858836:A:G p.(Ser129Gly) NC_000001.11:212858836:A:G p.(Ser129Gly) NC_000001.11:212858836:A:G Identity +NM_001099400.2:c.1117T>C NP_001092870.1:p.Trp373Arg NC_000007.14:94598883:A:G p.(Trp373Arg) NC_000007.14:94598883:A:G p.(Trp373Arg) NC_000007.14:94598883:A:G Identity +NM_000231.3:c.181A>T NP_000222.2:p.Met61Leu NC_000013.11:23203874:A:T p.(Met61Leu) NC_000013.11:23203874:A:T p.(Met61Leu) NC_000013.11:23203874:A:T Identity +NM_033071.5:c.19970G>A NP_149062.2:p.Arg6657His NC_000006.12:152236832:C:T p.(Arg6657His) NC_000006.12:152236832:C:T p.(Arg6657His) NC_000006.12:152236832:C:T Identity +NM_000261.2:c.224A>G NP_000252.1:p.Gln75Arg NC_000001.11:171652387:T:C p.(Gln75Arg) NC_000001.11:171652387:T:C p.(Gln75Arg) NC_000001.11:171652387:T:C Identity +NM_000433.4:c.1498A>G NP_000424.2:p.Lys500Glu NC_000001.11:183556200:T:C p.(Lys500Glu) NC_000001.11:183556200:T:C p.(Lys500Glu) NC_000001.11:183556200:T:C Identity +NM_031935.3:c.4352C>T NP_114141.2:p.Pro1451Leu NC_000001.11:186003720:C:T p.(Pro1451Leu) NC_000001.11:186003720:C:T p.(Pro1451Leu) NC_000001.11:186003720:C:T Identity +NM_031935.3:c.7652T>C NP_114141.2:p.Leu2551Ser NC_000001.11:186065375:T:C p.(Leu2551Ser) NC_000001.11:186065375:T:C p.(Leu2551Ser) NC_000001.11:186065375:T:C Identity +NM_031935.3:c.8033G>C NP_114141.2:p.Gly2678Ala NC_000001.11:186070650:G:C p.(Gly2678Ala) NC_000001.11:186070650:G:C p.(Gly2678Ala) NC_000001.11:186070650:G:C Identity +NM_031935.3:c.9685A>G NP_114141.2:p.Met3229Val NC_000001.11:186088712:A:G p.(Met3229Val) NC_000001.11:186088712:A:G p.(Met3229Val) NC_000001.11:186088712:A:G Identity +NM_004369.4:c.7513G>A NP_004360.2:p.Gly2505Arg NC_000002.12:237344504:C:T p.(Gly2505Arg) NC_000002.12:237344504:C:T p.(Gly2505Arg) NC_000002.12:237344504:C:T Identity +NM_033071.5:c.6107A>C NP_149062.2:p.Asn2036Thr NC_000006.12:152413495:T:G p.(Asn2036Thr) NC_000006.12:152413495:T:G p.(Asn2036Thr) NC_000006.12:152413495:T:G Identity +NM_033071.5:c.16927C>T NP_149062.2:p.Arg5643Trp NC_000006.12:152309896:G:A p.(Arg5643Trp) NC_000006.12:152309896:G:A p.(Arg5643Trp) NC_000006.12:152309896:G:A Identity +NM_000447.3:c.410A>G NP_000438.2:p.Asn137Ser NC_000001.11:226885590:A:G p.(Asn137Ser) NC_000001.11:226885590:A:G p.(Asn137Ser) NC_000001.11:226885590:A:G Identity +NM_001994.3:c.877C>T NP_001985.2:p.Arg293Cys NC_000001.11:197057393:G:A p.(Arg293Cys) NC_000001.11:197057393:G:A p.(Arg293Cys) NC_000001.11:197057393:G:A Identity +NM_018136.5:c.7976G>A NP_060606.3:p.Arg2659Lys NC_000001.11:197101274:C:T p.(Arg2659Lys) NC_000001.11:197101274:C:T p.(Arg2659Lys) NC_000001.11:197101274:C:T Identity +NM_001163771.2:c.136G>A NP_001157243.1:p.Gly46Ser NC_000006.12:33189415:C:T p.(Gly46Ser) NC_000006.12:33189415:C:T p.(Gly46Ser) NC_000006.12:33189415:C:T Identity +NM_001048166.1:c.3515C>T NP_001041631.1:p.Ser1172Phe NC_000001.11:47251487:G:A p.(Ser1172Phe) NC_000001.11:47251487:G:A p.(Ser1172Phe) NC_000001.11:47251487:G:A Identity +NM_001190818.2:c.1139G>T NP_001177747.1:p.Arg380Leu NC_000001.11:52389264:C:A p.(Arg380Leu) NC_000001.11:52389264:C:A p.(Arg380Leu) NC_000001.11:52389264:C:A Identity +NM_032409.3:c.826C>T NP_115785.1:p.Arg276Trp NC_000001.11:20644538:C:T p.(Arg276Trp) NC_000001.11:20644538:C:T p.(Arg276Trp) NC_000001.11:20644538:C:T Identity +NM_001291860.2:c.2899G>A NP_001278789.1:p.Glu967Lys NC_000001.11:21876335:C:T p.(Glu967Lys) NC_000001.11:21876335:C:T p.(Glu967Lys) NC_000001.11:21876335:C:T Identity +NM_003240.5:c.371C>G NP_003231.2:p.Pro124Arg NC_000001.11:225939881:G:C p.(Pro124Arg) NC_000001.11:225939881:G:C p.(Pro124Arg) NC_000001.11:225939881:G:C Identity +NM_000081.4:c.8960C>G NP_000072.2:p.Pro2987Arg NC_000001.11:235730930:G:C p.(Pro2987Arg) NC_000001.11:235730930:G:C p.(Pro2987Arg) NC_000001.11:235730930:G:C Identity +LRG_1249t1:c.1654G>T LRG_1249p1:p.Val552Leu NC_000010.11:104055814:C:A ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_001081.4:c.5302A>G NP_001072.2:p.Ile1768Val NC_000010.11:16947274:T:C p.(Ile1768Val) NC_000010.11:16947274:T:C p.(Ile1768Val) NC_000010.11:16947274:T:C Identity +NM_001365951.3:c.4820G>A NP_001352880.1:p.Cys1607Tyr NC_000001.11:10368533:G:A p.(Cys1607Tyr) NC_000001.11:10368533:G:A p.(Cys1607Tyr) NC_000001.11:10368533:G:A Identity +NM_006610.4:c.1316G>A NP_006601.2:p.Arg439His NC_000001.11:11027629:C:T p.(Arg439His) NC_000001.11:11027629:C:T p.(Arg439His) NC_000001.11:11027629:C:T Identity +NM_001172411.2:c.1166G>T NP_001165882.1:p.Arg389Met NC_000001.11:115685384:G:T p.(Arg389Met) NC_000001.11:115685384:G:T p.(Arg389Met) NC_000001.11:115685384:G:T Identity +NM_001288607.2:c.1159C>G NP_001275536.1:p.Arg387Gly NC_000001.11:150554391:C:G p.(Arg387Gly) NC_000001.11:150554391:C:G p.(Arg387Gly) NC_000001.11:150554391:C:G Identity +NM_000169.3:c.1023del NP_000160.1:p.Glu341fs NC_000023.11:101398075:TT:T p.(Glu341AspfsTer7) NC_000023.11:101398075:TT:T p.(Glu341AspfsTer7) NC_000023.11:101398075:T: Analogous +NM_000028.3:c.2248G>T NP_000019.2:p.Ala750Ser NC_000001.11:99881630:G:T p.(Ala750Ser) NC_000001.11:99881630:G:T p.(Ala750Ser) NC_000001.11:99881630:G:T Identity +NM_001350246.2:c.622C>G NP_001337175.1:p.Gln208Glu NC_000001.11:243378771:C:G p.(Gln208Glu) NC_000001.11:243378771:C:G p.(Gln208Glu) NC_000001.11:243378771:C:G Identity +NM_001256053.2:c.3937G>A NP_001242982.1:p.Glu1313Lys NC_000010.11:27028883:C:T p.(Glu1313Lys) NC_000010.11:27028883:C:T p.(Glu1313Lys) NC_000010.11:27028883:C:T Identity +NM_002900.3:c.1399C>T NP_002891.1:p.Pro467Ser NC_000010.11:47349882:C:T p.(Pro467Ser) NC_000010.11:47349882:C:T p.(Pro467Ser) NC_000010.11:47349882:C:T Identity +NM_001142763.2:c.5198C>T NP_001136235.1:p.Thr1733Ile NC_000010.11:53822548:G:A p.(Thr1733Ile) NC_000010.11:53822548:G:A p.(Thr1733Ile) NC_000010.11:53822548:G:A Identity +LRG_1136t1:c.391_393del LRG_1136p1:p.Ile131del NC_000001.11:155295550:GATG:G ERR:Data provider error: ValueError: Transcript LRG_1136t1 not found ERR:Data provider error: ValueError: Transcript LRG_1136t1 not found ERR:AlignmentMapper(tx_ac=LRG_1136t1, alt_ac=LRG_1136t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1136t1, alt_ac=LRG_1136t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1136t1 not found +NM_003126.4:c.3167G>T NP_003117.2:p.Arg1056Leu NC_000001.11:158653294:C:A p.(Arg1056Leu) NC_000001.11:158653294:C:A p.(Arg1056Leu) NC_000001.11:158653294:C:A Identity +NM_003126.4:c.3166C>T NP_003117.2:p.Arg1056Cys NC_000001.11:158653295:G:A p.(Arg1056Cys) NC_000001.11:158653295:G:A p.(Arg1056Cys) NC_000001.11:158653295:G:A Identity +NM_003126.4:c.679G>A NP_003117.2:p.Glu227Lys NC_000001.11:158678533:C:T p.(Glu227Lys) NC_000001.11:158678533:C:T p.(Glu227Lys) NC_000001.11:158678533:C:T Identity +NM_000130.5:c.6629A>T NP_000121.2:p.Gln2210Leu NC_000001.11:169514358:T:A p.(Gln2210Leu) NC_000001.11:169514358:T:A p.(Gln2210Leu) NC_000001.11:169514358:T:A Identity +NM_001377295.2:c.14C>T NP_001364224.1:p.Ala5Val NC_000001.11:109612856:G:A p.(Ala5Val) NC_000001.11:109612856:G:A p.(Ala5Val) NC_000001.11:109612856:G:A Identity +NM_000198.4:c.333T>G NP_000189.1:p.Cys111Trp NC_000001.11:119421833:T:G p.(Cys111Trp) NC_000001.11:119421833:T:G p.(Cys111Trp) NC_000001.11:119421833:T:G Identity +NM_002353.3:c.648C>A NP_002344.2:p.Asp216Glu NC_000001.11:58576508:G:T p.(Asp216Glu) NC_000001.11:58576508:G:T p.(Asp216Glu) NC_000001.11:58576508:G:T Identity +NM_000110.4:c.1475C>T NP_000101.2:p.Ser492Leu NC_000001.11:97549608:G:A p.(Ser492Leu) NC_000001.11:97549608:G:A p.(Ser492Leu) NC_000001.11:97549608:G:A Identity +LRG_1208t1:c.1860T>A LRG_1208p1:p.Asp620Glu NC_000010.11:99810177:T:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001363518.2:c.686G>A NP_001350447.1:p.Ser229Asn NC_000010.11:71362099:G:A p.(Ser229Asn) NC_000010.11:71362099:G:A p.(Ser229Asn) NC_000010.11:71362099:G:A Identity +NM_001171971.3:c.1589C>G NP_001165442.1:p.Thr530Ser NC_000010.11:84212213:C:G p.(Thr530Ser) NC_000010.11:84212213:C:G p.(Thr530Ser) NC_000010.11:84212213:C:G Identity +NM_000261.2:c.440G>A NP_000252.1:p.Arg147Gln NC_000001.11:171652171:C:T p.(Arg147Gln) NC_000001.11:171652171:C:T p.(Arg147Gln) NC_000001.11:171652171:C:T Identity +NM_000639.3:c.364C>A NP_000630.1:p.His122Asn NC_000001.11:172660109:C:A p.(His122Asn) NC_000001.11:172660109:C:A p.(His122Asn) NC_000001.11:172660109:C:A Identity +NM_001141973.3:c.3286C>T NP_001135445.1:p.Leu1096Phe NC_000001.11:16986566:G:A p.(Leu1096Phe) NC_000001.11:16986566:G:A p.(Leu1096Phe) NC_000001.11:16986566:G:A Identity +NM_005562.3:c.331G>C NP_005553.2:p.Ala111Pro NC_000001.11:183215514:G:C p.(Ala111Pro) NC_000001.11:183215514:G:C p.(Ala111Pro) NC_000001.11:183215514:G:C Identity +NM_031935.3:c.10370G>A NP_114141.2:p.Cys3457Tyr NC_000001.11:186095317:G:A p.(Cys3457Tyr) NC_000001.11:186095317:G:A p.(Cys3457Tyr) NC_000001.11:186095317:G:A Identity +NM_031935.3:c.12963G>C NP_114141.2:p.Glu4321Asp NC_000001.11:186130023:G:C p.(Glu4321Asp) NC_000001.11:186130023:G:C p.(Glu4321Asp) NC_000001.11:186130023:G:C Identity +NM_031935.3:c.13942G>T NP_114141.2:p.Ala4648Ser NC_000001.11:186144189:G:T p.(Ala4648Ser) NC_000001.11:186144189:G:T p.(Ala4648Ser) NC_000001.11:186144189:G:T Identity +NM_031935.3:c.13950G>C NP_114141.2:p.Gln4650His NC_000001.11:186144197:G:C p.(Gln4650His) NC_000001.11:186144197:G:C p.(Gln4650His) NC_000001.11:186144197:G:C Identity +NM_003126.4:c.2654G>A NP_003117.2:p.Arg885His NC_000001.11:158657627:C:T p.(Arg885His) NC_000001.11:158657627:C:T p.(Arg885His) NC_000001.11:158657627:C:T Identity +NM_001320252.2:c.254G>A NP_001307181.1:p.Arg85His NC_000001.11:170552070:G:A p.(Arg85His) NC_000001.11:170552070:G:A p.(Arg85His) NC_000001.11:170552070:G:A Identity +NM_001002294.3:c.1204A>G NP_001002294.1:p.Met402Val NC_000001.11:171116227:A:G p.(Met402Val) NC_000001.11:171116227:A:G p.(Met402Val) NC_000001.11:171116227:A:G Identity +LRG_1208t1:c.3815T>C LRG_1208p1:p.Ile1272Thr NC_000010.11:99843871:T:C ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001081.4:c.8635C>A NP_001072.2:p.Leu2879Ile NC_000010.11:16890490:G:T p.(Leu2879Ile) NC_000010.11:16890490:G:T p.(Leu2879Ile) NC_000010.11:16890490:G:T Identity +NM_001304717.5:c.355C>G NP_001291646.4:p.Arg119Gly NC_000010.11:87864304:C:G p.(Arg119Gly) NC_000010.11:87864304:C:G p.(Arg119Gly) NC_000010.11:87864304:C:G Identity +NM_002427.4:c.301G>T NP_002418.1:p.Val101Leu NC_000011.10:102955312:C:A p.(Val101Leu) NC_000011.10:102955312:C:A p.(Val101Leu) NC_000011.10:102955312:C:A Identity +NM_001080463.2:c.2479A>G NP_001073932.1:p.Ile827Val NC_000011.10:103135852:A:G p.(Ile827Val) NC_000011.10:103135852:A:G p.(Ile827Val) NC_000011.10:103135852:A:G Identity +NM_000480.3:c.512G>A NP_000471.1:p.Arg171Gln NC_000011.10:10482120:G:A p.(Arg171Gln) NC_000011.10:10482120:G:A p.(Arg171Gln) NC_000011.10:10482120:G:A Identity +NM_000186.4:c.2669G>T NP_000177.2:p.Ser890Ile NC_000001.11:196737546:G:T p.(Ser890Ile) NC_000001.11:196737546:G:T p.(Ser890Ile) NC_000001.11:196737546:G:T Identity +NM_000186.4:c.3172T>C NP_000177.2:p.Tyr1058His NC_000001.11:196743489:T:C p.(Tyr1058His) NC_000001.11:196743489:T:C p.(Tyr1058His) NC_000001.11:196743489:T:C Identity +NM_000186.4:c.3178G>C NP_000177.2:p.Val1060Leu NC_000001.11:196743495:G:C p.(Val1060Leu) NC_000001.11:196743495:G:C p.(Val1060Leu) NC_000001.11:196743495:G:C Identity +NM_001193640.2:c.1171A>G NP_001180569.1:p.Thr391Ala NC_000001.11:197421334:A:G p.(Thr391Ala) NC_000001.11:197421334:A:G p.(Thr391Ala) NC_000001.11:197421334:A:G Identity +NM_000299.4:c.347G>A NP_000290.2:p.Arg116His NC_000001.11:201313205:G:A p.(Arg116His) NC_000001.11:201313205:G:A p.(Arg116His) NC_000001.11:201313205:G:A Identity +NM_001256125.2:c.987G>T NP_001243054.2:p.Lys329Asn NC_000001.11:203217850:C:A p.(Lys329Asn) NC_000001.11:203217850:C:A p.(Lys329Asn) NC_000001.11:203217850:C:A Identity +NM_005562.3:c.2681G>A NP_005553.2:p.Arg894His NC_000001.11:183237430:G:A p.(Arg894His) NC_000001.11:183237430:G:A p.(Arg894His) NC_000001.11:183237430:G:A Identity +NM_001378761.1:c.5246A>G NP_001365690.1:p.Asp1749Gly NC_000011.10:121153063:A:G p.(Asp1749Gly) NC_000011.10:121153063:A:G p.(Asp1749Gly) NC_000011.10:121153063:A:G Identity +NM_000228.3:c.3007G>A NP_000219.2:p.Gly1003Ser NC_000001.11:209617950:C:T p.(Gly1003Ser) NC_000001.11:209617950:C:T p.(Gly1003Ser) NC_000001.11:209617950:C:T Identity +NM_001206846.2:c.5341G>A NP_001193775.1:p.Gly1781Arg NC_000001.11:197088320:C:T p.(Gly1781Arg) NC_000001.11:197088320:C:T p.(Gly1781Arg) NC_000001.11:197088320:C:T Identity +NM_001206846.2:c.2263G>A NP_001193775.1:p.Ala755Thr NC_000001.11:197133505:C:T p.(Ala755Thr) NC_000001.11:197133505:C:T p.(Ala755Thr) NC_000001.11:197133505:C:T Identity +NM_000352.6:c.1537G>A NP_000343.2:p.Ala513Thr NC_000011.10:17442812:C:T p.(Ala513Thr) NC_000011.10:17442812:C:T p.(Ala513Thr) NC_000011.10:17442812:C:T Identity +NM_001318369.2:c.575C>G NP_001305298.1:p.Ala192Gly NC_000011.10:20626723:C:G p.(Ala192Gly) NC_000011.10:20626723:C:G p.(Ala192Gly) NC_000011.10:20626723:C:G Identity +NM_001042465.3:c.1021A>G NP_001035930.1:p.Ile341Val NC_000010.11:71819893:T:C p.(Ile341Val) NC_000010.11:71819893:T:C p.(Ile341Val) NC_000010.11:71819893:T:C Identity +NM_001291860.2:c.5759G>A NP_001278789.1:p.Arg1920His NC_000001.11:21855620:C:T p.(Arg1920His) NC_000001.11:21855620:C:T p.(Arg1920His) NC_000001.11:21855620:C:T Identity +NM_001291860.2:c.5750G>A NP_001278789.1:p.Gly1917Asp NC_000001.11:21855629:C:T p.(Gly1917Asp) NC_000001.11:21855629:C:T p.(Gly1917Asp) NC_000001.11:21855629:C:T Identity +NM_001291860.2:c.3652G>C NP_001278789.1:p.Ala1218Pro NC_000001.11:21874412:C:G p.(Ala1218Pro) NC_000001.11:21874412:C:G p.(Ala1218Pro) NC_000001.11:21874412:C:G Identity +NM_001079515.3:c.1253A>G NP_001072983.1:p.Tyr418Cys NC_000001.11:235438904:A:G p.(Tyr418Cys) NC_000001.11:235438904:A:G p.(Tyr418Cys) NC_000001.11:235438904:A:G Identity +NM_005216.5:c.893G>A NP_005207.3:p.Arg298Gln NC_000001.11:20653675:C:T p.(Arg298Gln) NC_000001.11:20653675:C:T p.(Arg298Gln) NC_000001.11:20653675:C:T Identity +NM_001291860.2:c.9793A>G NP_001278789.1:p.Ile3265Val NC_000001.11:21839469:T:C p.(Ile3265Val) NC_000001.11:21839469:T:C p.(Ile3265Val) NC_000001.11:21839469:T:C Identity +NM_001291860.2:c.8906G>A NP_001278789.1:p.Arg2969Gln NC_000001.11:21842776:C:T p.(Arg2969Gln) NC_000001.11:21842776:C:T p.(Arg2969Gln) NC_000001.11:21842776:C:T Identity +NM_000081.4:c.5071C>T NP_000072.2:p.Pro1691Ser NC_000001.11:235781007:G:A p.(Pro1691Ser) NC_000001.11:235781007:G:A p.(Pro1691Ser) NC_000001.11:235781007:G:A Identity +NM_000081.4:c.1655T>C NP_000072.2:p.Val552Ala NC_000001.11:235809162:A:G p.(Val552Ala) NC_000001.11:235809162:A:G p.(Val552Ala) NC_000001.11:235809162:A:G Identity +NM_005373.3:c.1666G>T NP_005364.1:p.Val556Phe NC_000001.11:43352529:G:T p.(Val556Phe) NC_000001.11:43352529:G:T p.(Val556Phe) NC_000001.11:43352529:G:T Identity +NM_001103.4:c.1031A>C NP_001094.1:p.Asn344Thr NC_000001.11:236739455:A:C p.(Asn344Thr) NC_000001.11:236739455:A:C p.(Asn344Thr) NC_000001.11:236739455:A:C Identity +NM_001378761.1:c.4513C>T NP_001365690.1:p.Arg1505Trp NC_000011.10:121145566:C:T p.(Arg1505Trp) NC_000011.10:121145566:C:T p.(Arg1505Trp) NC_000011.10:121145566:C:T Identity +NM_001319683.2:c.1057T>C NP_001306612.1:p.Tyr353His NC_000001.11:92267953:A:G p.(Tyr353His) NC_000001.11:92267953:A:G p.(Tyr353His) NC_000001.11:92267953:A:G Identity +NM_000110.4:c.2186C>T NP_000101.2:p.Ala729Val NC_000001.11:97305371:G:A p.(Ala729Val) NC_000001.11:97305371:G:A p.(Ala729Val) NC_000001.11:97305371:G:A Identity +NM_020365.5:c.1319A>G NP_065098.1:p.Asn440Ser NC_000001.11:44850990:T:C p.(Asn440Ser) NC_000001.11:44850990:T:C p.(Asn440Ser) NC_000001.11:44850990:T:C Identity +NM_001172818.1:c.715C>T NP_001166289.1:p.Arg239Cys NC_000001.11:63631760:C:T p.(Arg239Cys) NC_000001.11:63631760:C:T p.(Arg239Cys) NC_000001.11:63631760:C:T Identity +NM_000525.4:c.1034C>T NP_000516.3:p.Thr345Met NC_000011.10:17387057:G:A p.(Thr345Met) NC_000011.10:17387057:G:A p.(Thr345Met) NC_000011.10:17387057:G:A Identity +NM_000352.6:c.2993G>C NP_000343.2:p.Arg998Pro NC_000011.10:17407056:C:G p.(Arg998Pro) NC_000011.10:17407056:C:G p.(Arg998Pro) NC_000011.10:17407056:C:G Identity +NM_001319683.2:c.899T>C NP_001306612.1:p.Ile300Thr NC_000001.11:92271488:A:G p.(Ile300Thr) NC_000001.11:92271488:A:G p.(Ile300Thr) NC_000001.11:92271488:A:G Identity +NM_000350.3:c.4256T>C NP_000341.2:p.Met1419Thr NC_000001.11:94030523:A:G p.(Met1419Thr) NC_000001.11:94030523:A:G p.(Met1419Thr) NC_000001.11:94030523:A:G Identity +NM_000350.3:c.2278C>G NP_000341.2:p.Leu760Val NC_000001.11:94056704:G:C p.(Leu760Val) NC_000001.11:94056704:G:C p.(Leu760Val) NC_000001.11:94056704:G:C Identity +LRG_1249t1:c.3772G>A LRG_1249p1:p.Asp1258Asn NC_000010.11:104034328:C:T ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +LRG_1249t1:c.2641C>G LRG_1249p1:p.Pro881Ala NC_000010.11:104041308:G:C ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_000323.2:c.220G>A NP_000314.1:p.Gly74Ser NC_000010.11:43100604:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000124.4:c.4211G>A NP_000115.1:p.Arg1404His NC_000010.11:49459085:C:T p.(Arg1404His) NC_000010.11:49459085:C:T p.(Arg1404His) NC_000010.11:49459085:C:T Identity +NM_000375.3:c.327A>C NP_000366.1:p.Lys109Asn NC_000010.11:125807479:T:G p.(Lys109Asn) NC_000010.11:125807479:T:G p.(Lys109Asn) NC_000010.11:125807479:T:G Identity +NM_001081.4:c.10656C>A NP_001072.2:p.Asn3552Lys NC_000010.11:16828912:G:T p.(Asn3552Lys) NC_000010.11:16828912:G:T p.(Asn3552Lys) NC_000010.11:16828912:G:T Identity +NM_001081.4:c.7070A>C NP_001072.2:p.Tyr2357Ser NC_000010.11:16915960:T:G p.(Tyr2357Ser) NC_000010.11:16915960:T:G p.(Tyr2357Ser) NC_000010.11:16915960:T:G Identity +NM_001014797.3:c.49G>C NP_001014797.1:p.Gly17Arg NC_000010.11:77637593:C:G p.(Gly17Arg) NC_000010.11:77637593:C:G p.(Gly17Arg) NC_000010.11:77637593:C:G Identity +NM_000124.4:c.2645A>G NP_000115.1:p.Tyr882Cys NC_000010.11:49473540:T:C p.(Tyr882Cys) NC_000010.11:49473540:T:C p.(Tyr882Cys) NC_000010.11:49473540:T:C Identity +NM_001171971.3:c.1849G>A NP_001165442.1:p.Ala617Thr NC_000010.11:84213156:G:A p.(Ala617Thr) NC_000010.11:84213156:G:A p.(Ala617Thr) NC_000010.11:84213156:G:A Identity +NM_001288989.2:c.576A>C NP_001275918.1:p.Glu192Asp NC_000010.11:94031621:A:C p.(Glu192Asp) NC_000010.11:94031621:A:C p.(Glu192Asp) NC_000010.11:94031621:A:C Identity +NM_001165979.2:c.643A>G NP_001159451.1:p.Ile215Val NC_000010.11:94171253:A:G p.(Ile215Val) NC_000010.11:94171253:A:G p.(Ile215Val) NC_000010.11:94171253:A:G Identity +NM_001558.4:c.80C>T NP_001549.2:p.Pro27Leu NC_000011.10:117988393:C:T p.(Pro27Leu) NC_000011.10:117988393:C:T p.(Pro27Leu) NC_000011.10:117988393:C:T Identity +NM_001558.4:c.785G>A NP_001549.2:p.Arg262His NC_000011.10:117995684:G:A p.(Arg262His) NC_000011.10:117995684:G:A p.(Arg262His) NC_000011.10:117995684:G:A Identity +NM_001558.4:c.320G>A NP_001549.2:p.Arg107Gln NC_000011.10:117989572:G:A p.(Arg107Gln) NC_000011.10:117989572:G:A p.(Arg107Gln) NC_000011.10:117989572:G:A Identity +NM_001558.4:c.337G>A NP_001549.2:p.Val113Ile NC_000011.10:117989589:G:A p.(Val113Ile) NC_000011.10:117989589:G:A p.(Val113Ile) NC_000011.10:117989589:G:A Identity +NM_001378761.1:c.5677A>G NP_001365690.1:p.Ile1893Val NC_000011.10:121160164:A:G p.(Ile1893Val) NC_000011.10:121160164:A:G p.(Ile1893Val) NC_000011.10:121160164:A:G Identity +NM_001378761.1:c.4685G>A NP_001365690.1:p.Arg1562His NC_000011.10:121145738:G:A p.(Arg1562His) NC_000011.10:121145738:G:A p.(Arg1562His) NC_000011.10:121145738:G:A Identity +NM_001297764.2:c.1163G>A NP_001284693.1:p.Gly388Glu NC_000011.10:17517464:C:T p.(Gly388Glu) NC_000011.10:17517464:C:T p.(Gly388Glu) NC_000011.10:17517464:C:T Identity +NM_000401.3:c.1186G>A NP_000392.3:p.Val396Met NC_000011.10:44130051:G:A p.(Val396Met) NC_000011.10:44130051:G:A p.(Val396Met) NC_000011.10:44130051:G:A Identity +NM_000207.3:c.130G>A NP_000198.1:p.Gly44Arg NC_000011.10:2160841:C:T p.(Gly44Arg) NC_000011.10:2160841:C:T p.(Gly44Arg) NC_000011.10:2160841:C:T Identity +NM_000448.3:c.2825C>T NP_000439.2:p.Thr942Ile NC_000011.10:36576128:C:T p.(Thr942Ile) NC_000011.10:36576128:C:T p.(Thr942Ile) NC_000011.10:36576128:C:T Identity +NM_001145265.2:c.709G>A NP_001138737.1:p.Gly237Arg NC_000011.10:45810987:G:A p.(Gly237Arg) NC_000011.10:45810987:G:A p.(Gly237Arg) NC_000011.10:45810987:G:A Identity +NM_000107.3:c.577G>A NP_000098.1:p.Val193Ile NC_000011.10:47232933:G:A p.(Val193Ile) NC_000011.10:47232933:G:A p.(Val193Ile) NC_000011.10:47232933:G:A Identity +NM_001122955.4:c.124C>T NP_001116427.1:p.Arg42Cys NC_000011.10:62705580:G:A p.(Arg42Cys) NC_000011.10:62705580:G:A p.(Arg42Cys) NC_000011.10:62705580:G:A Identity +NM_001122955.4:c.745G>T NP_001116427.1:p.Ala249Ser NC_000011.10:62692682:C:A p.(Ala249Ser) NC_000011.10:62692682:C:A p.(Ala249Ser) NC_000011.10:62692682:C:A Identity +NM_053054.4:c.947G>A NP_444282.3:p.Gly316Asp NC_000011.10:66025432:C:T p.(Gly316Asp) NC_000011.10:66025432:C:T p.(Gly316Asp) NC_000011.10:66025432:C:T Identity +NM_006946.4:c.6674T>C NP_008877.2:p.Leu2225Pro NC_000011.10:66687474:A:G p.(Leu2225Pro) NC_000011.10:66687474:A:G p.(Leu2225Pro) NC_000011.10:66687474:A:G Identity +NM_001164716.1:c.488A>G NP_001158188.1:p.Asn163Ser NC_000011.10:64755466:T:C p.(Asn163Ser) NC_000011.10:64755466:T:C p.(Asn163Ser) NC_000011.10:64755466:T:C Identity +NM_016938.5:c.977G>A NP_058634.4:p.Arg326His NC_000011.10:65868053:C:T p.(Arg326His) NC_000011.10:65868053:C:T p.(Arg326His) NC_000011.10:65868053:C:T Identity +NM_053054.4:c.695A>T NP_444282.3:p.His232Leu NC_000011.10:66025684:T:A p.(His232Leu) NC_000011.10:66025684:T:A p.(His232Leu) NC_000011.10:66025684:T:A Identity +NM_006946.4:c.924G>C NP_008877.2:p.Glu308Asp NC_000011.10:66710730:C:G p.(Glu308Asp) NC_000011.10:66710730:C:G p.(Glu308Asp) NC_000011.10:66710730:C:G Identity +NM_001122955.4:c.184C>T NP_001116427.1:p.Leu62Phe NC_000011.10:62705520:G:A p.(Leu62Phe) NC_000011.10:62705520:G:A p.(Leu62Phe) NC_000011.10:62705520:G:A Identity +NM_000920.4:c.3435G>T NP_000911.2:p.Met1145Ile NC_000011.10:66849000:C:A p.(Met1145Ile) NC_000011.10:66849000:C:A p.(Met1145Ile) NC_000011.10:66849000:C:A Identity +NM_006946.4:c.4714C>T NP_008877.2:p.Arg1572Cys NC_000011.10:66693325:G:A p.(Arg1572Cys) NC_000011.10:66693325:G:A p.(Arg1572Cys) NC_000011.10:66693325:G:A Identity +NM_000920.4:c.3341C>T NP_000911.2:p.Ala1114Val NC_000011.10:66849094:G:A p.(Ala1114Val) NC_000011.10:66849094:G:A p.(Ala1114Val) NC_000011.10:66849094:G:A Identity +NM_001302959.2:c.767A>C NP_001289888.1:p.Gln256Pro NC_000011.10:67490943:A:C p.(Gln256Pro) NC_000011.10:67490943:A:C p.(Gln256Pro) NC_000011.10:67490943:A:C Identity +NM_001351059.2:c.400G>A NP_001337988.1:p.Ala134Thr NC_000011.10:68047560:G:A p.(Ala134Thr) NC_000011.10:68047560:G:A p.(Ala134Thr) NC_000011.10:68047560:G:A Identity +NM_000260.4:c.225C>A NP_000251.3:p.Asp75Glu NC_000011.10:77147889:C:A p.(Asp75Glu) NC_000011.10:77147889:C:A p.(Asp75Glu) NC_000011.10:77147889:C:A Identity +NM_000260.4:c.1358G>A NP_000251.3:p.Cys453Tyr NC_000011.10:77162133:G:A p.(Cys453Tyr) NC_000011.10:77162133:G:A p.(Cys453Tyr) NC_000011.10:77162133:G:A Identity +NM_001386339.1:c.2474A>G NP_001373268.1:p.Lys825Arg NC_000011.10:9853601:T:C p.(Lys825Arg) NC_000011.10:9853601:T:C p.(Lys825Arg) NC_000011.10:9853601:T:C Identity +NM_024312.5:c.863T>C NP_077288.2:p.Met288Thr NC_000012.12:101771065:A:G p.(Met288Thr) NC_000012.12:101771065:A:G p.(Met288Thr) NC_000012.12:101771065:A:G Identity +NM_001007027.3:c.286A>T NP_001007028.1:p.Asn96Tyr NC_000011.10:78124102:T:A p.(Asn96Tyr) NC_000011.10:78124102:T:A p.(Asn96Tyr) NC_000011.10:78124102:T:A Identity +NM_001330347.2:c.914G>A NP_001317276.1:p.Arg305Gln NC_000011.10:94470573:C:T p.(Arg305Gln) NC_000011.10:94470573:C:T p.(Arg305Gln) NC_000011.10:94470573:C:T Identity +NM_012193.4:c.1405G>A NP_036325.2:p.Ala469Thr NC_000011.10:86951350:C:T p.(Ala469Thr) NC_000011.10:86951350:C:T p.(Ala469Thr) NC_000011.10:86951350:C:T Identity +NM_001681.4:c.1912A>G NP_001672.1:p.Ile638Val NC_000012.12:110340808:A:G p.(Ile638Val) NC_000012.12:110340808:A:G p.(Ile638Val) NC_000012.12:110340808:A:G Identity +NM_172364.5:c.3038C>T NP_758952.4:p.Thr1013Met NC_000012.12:1797492:G:A p.(Thr1013Met) NC_000012.12:1797492:G:A p.(Thr1013Met) NC_000012.12:1797492:G:A Identity +NM_002282.3:c.328GAG[1] NP_002273.3:p.Glu111del NC_000012.12:52321002:CTCCTCCT:CTCCT p.(Glu111del) NC_000012.12:52321007:C:CTC ERR:Parse ERR:Parse Identity +NM_001144996.2:c.1693G>A NP_001138468.1:p.Val565Met NC_000012.12:55696954:C:T p.(Val565Met) NC_000012.12:55696954:C:T p.(Val565Met) NC_000012.12:55696954:C:T Identity +NM_001349920.2:c.508G>A NP_001336849.1:p.Asp170Asn NC_000012.12:20862521:G:A p.(Asp170Asn) NC_000012.12:20862521:G:A p.(Asp170Asn) NC_000012.12:20862521:G:A Identity +NM_021957.4:c.289A>G NP_068776.2:p.Lys97Glu NC_000012.12:21580355:T:C p.(Lys97Glu) NC_000012.12:21580355:T:C p.(Lys97Glu) NC_000012.12:21580355:T:C Identity +NM_001114182.3:c.713C>T NP_001107654.1:p.Ala238Val NC_000012.12:43774025:C:T p.(Ala238Val) NC_000012.12:43774025:C:T p.(Ala238Val) NC_000012.12:43774025:C:T Identity +NM_003482.4:c.7202G>A NP_003473.3:p.Arg2401His NC_000012.12:49040567:C:T p.(Arg2401His) NC_000012.12:49040567:C:T p.(Arg2401His) NC_000012.12:49040567:C:T Identity +NM_000217.3:c.317T>C NP_000208.2:p.Val106Ala NC_000012.12:4911694:T:C p.(Val106Ala) NC_000012.12:4911694:T:C p.(Val106Ala) NC_000012.12:4911694:T:C Identity +NM_001038.6:c.1484C>T NP_001029.1:p.Ser495Leu NC_000012.12:6349176:G:A p.(Ser495Leu) NC_000012.12:6349176:G:A p.(Ser495Leu) NC_000012.12:6349176:G:A Identity +NM_001384126.1:c.2635A>G NP_001371055.1:p.Arg879Gly NC_000012.12:32644595:A:G p.(Arg879Gly) NC_000012.12:32644595:A:G p.(Arg879Gly) NC_000012.12:32644595:A:G Identity +NM_001173463.2:c.1628A>G NP_001166934.1:p.Lys543Arg NC_000012.12:39351821:T:C p.(Lys543Arg) NC_000012.12:39351821:T:C p.(Lys543Arg) NC_000012.12:39351821:T:C Identity +NM_001844.5:c.4117G>A NP_001835.3:p.Val1373Ile NC_000012.12:47974288:C:T p.(Val1373Ile) NC_000012.12:47974288:C:T p.(Val1373Ile) NC_000012.12:47974288:C:T Identity +NM_000424.4:c.115G>A NP_000415.2:p.Gly39Arg NC_000012.12:52520181:C:T p.(Gly39Arg) NC_000012.12:52520181:C:T p.(Gly39Arg) NC_000012.12:52520181:C:T Identity +NM_002282.3:c.599AAG[2] NP_002273.3:p.Glu202del NC_000012.12:52317956:CTTCTTCTTC:CTTCTTC p.(Glu202del) NC_000012.12:52317964:T:CTTCTT ERR:Parse ERR:Parse Identity +NM_001204425.2:c.4774G>A NP_001191354.2:p.Val1592Met NC_000013.11:102875753:G:A p.(Val1592Met) NC_000013.11:102875753:G:A p.(Val1592Met) NC_000013.11:102875753:G:A Identity +NM_001278055.2:c.7094A>G NP_001264984.1:p.Asn2365Ser NC_000013.11:23336340:T:C p.(Asn2365Ser) NC_000013.11:23336340:T:C p.(Asn2365Ser) NC_000013.11:23336340:T:C Identity +NM_001278055.2:c.6724G>A NP_001264984.1:p.Val2242Met NC_000013.11:23336710:C:T p.(Val2242Met) NC_000013.11:23336710:C:T p.(Val2242Met) NC_000013.11:23336710:C:T Identity +NM_001173463.2:c.2743C>T NP_001166934.1:p.Arg915Cys NC_000012.12:39332664:G:A p.(Arg915Cys) NC_000012.12:39332664:G:A p.(Arg915Cys) NC_000012.12:39332664:G:A Identity +NM_000486.6:c.70G>A NP_000477.1:p.Val24Ile NC_000012.12:49950899:G:A p.(Val24Ile) NC_000012.12:49950899:G:A p.(Val24Ile) NC_000012.12:49950899:G:A Identity +NM_000424.4:c.381C>A NP_000415.2:p.Phe127Leu NC_000012.12:52519915:G:T p.(Phe127Leu) NC_000012.12:52519915:G:T p.(Phe127Leu) NC_000012.12:52519915:G:T Identity +NM_000423.3:c.134G>A NP_000414.2:p.Arg45His NC_000012.12:52652008:C:T p.(Arg45His) NC_000012.12:52652008:C:T p.(Arg45His) NC_000012.12:52652008:C:T Identity +NM_000423.3:c.1204G>A NP_000414.2:p.Val402Met NC_000012.12:52647773:C:T p.(Val402Met) NC_000012.12:52647773:C:T p.(Val402Met) NC_000012.12:52647773:C:T Identity +NM_001256041.2:c.932AAG[1] NP_001242970.1:p.Glu312del NC_000012.12:57043313:CTTCTTCT:CTTCT p.(Glu312del) NC_000012.12:57043318:T:CTT ERR:Parse ERR:Parse Identity +NM_207361.6:c.8461C>G NP_997244.4:p.Pro2821Ala NC_000013.11:38876298:C:G p.(Pro2821Ala) NC_000013.11:38876298:C:G p.(Pro2821Ala) NC_000013.11:38876298:C:G Identity +NM_001142279.2:c.127C>T NP_001135751.1:p.Pro43Ser NC_000013.11:50927468:C:T p.(Pro43Ser) NC_000013.11:50927468:C:T p.(Pro43Ser) NC_000013.11:50927468:C:T Identity +NM_000270.4:c.66G>C NP_000261.2:p.Lys22Asn NC_000014.9:20472361:G:C p.(Lys22Asn) NC_000014.9:20472361:G:C p.(Lys22Asn) NC_000014.9:20472361:G:C Identity +NM_001278055.2:c.503A>G NP_001264984.1:p.Asp168Gly NC_000013.11:23355667:T:C p.(Asp168Gly) NC_000013.11:23355667:T:C p.(Asp168Gly) NC_000013.11:23355667:T:C Identity +NM_004795.4:c.2572T>A NP_004786.2:p.Trp858Arg NC_000013.11:33061650:T:A p.(Trp858Arg) NC_000013.11:33061650:T:A p.(Trp858Arg) NC_000013.11:33061650:T:A Identity +NM_207361.6:c.3794A>G NP_997244.4:p.Tyr1265Cys NC_000013.11:38691137:A:G p.(Tyr1265Cys) NC_000013.11:38691137:A:G p.(Tyr1265Cys) NC_000013.11:38691137:A:G Identity +NM_020366.4:c.310G>C NP_065099.3:p.Gly104Arg NC_000014.9:21301056:G:C p.(Gly104Arg) NC_000014.9:21301056:G:C p.(Gly104Arg) NC_000014.9:21301056:G:C Identity +NM_001083908.2:c.734C>T NP_001077377.1:p.Ala245Val NC_000014.9:49634415:G:A p.(Ala245Val) NC_000014.9:49634415:G:A p.(Ala245Val) NC_000014.9:49634415:G:A Identity +NM_001354705.2:c.2801T>G NP_001341634.1:p.Phe934Cys NC_000012.12:57583147:T:G p.(Phe934Cys) NC_000012.12:57583147:T:G p.(Phe934Cys) NC_000012.12:57583147:T:G Identity +NM_000785.4:c.1505A>G NP_000776.1:p.Asn502Ser NC_000012.12:57763163:T:C p.(Asn502Ser) NC_000012.12:57763163:T:C p.(Asn502Ser) NC_000012.12:57763163:T:C Identity +NM_001099274.3:c.359A>G NP_001092744.1:p.Gln120Arg NC_000014.9:24241714:T:C p.(Gln120Arg) NC_000014.9:24241714:T:C p.(Gln120Arg) NC_000014.9:24241714:T:C Identity +NM_000359.3:c.1967G>A NP_000350.1:p.Arg656Gln NC_000014.9:24254784:C:T p.(Arg656Gln) NC_000014.9:24254784:C:T p.(Arg656Gln) NC_000014.9:24254784:C:T Identity +NM_000359.3:c.361C>T NP_000350.1:p.Arg121Cys NC_000014.9:24261841:G:A p.(Arg121Cys) NC_000014.9:24261841:G:A p.(Arg121Cys) NC_000014.9:24261841:G:A Identity +NM_001135058.2:c.1204A>G NP_001128530.1:p.Ile402Val NC_000014.9:30886038:A:G p.(Ile402Val) NC_000014.9:30886038:A:G p.(Ile402Val) NC_000014.9:30886038:A:G Identity +NM_001031714.4:c.1126A>T NP_001026884.3:p.Thr376Ser NC_000014.9:104707392:A:T p.(Thr376Ser) NC_000014.9:104707392:A:T p.(Thr376Ser) NC_000014.9:104707392:A:T Identity +NM_015180.6:c.14203G>A NP_055995.4:p.Val4735Ile NC_000014.9:64130110:G:A p.(Val4735Ile) NC_000014.9:64130110:G:A p.(Val4735Ile) NC_000014.9:64130110:G:A Identity +NM_015346.4:c.5798G>C NP_056161.2:p.Ser1933Thr NC_000014.9:67766439:C:G p.(Ser1933Thr) NC_000014.9:67766439:C:G p.(Ser1933Thr) NC_000014.9:67766439:C:G Identity +NM_001040108.2:c.2390G>A NP_001035197.1:p.Arg797His NC_000014.9:75047265:C:T p.(Arg797His) NC_000014.9:75047265:C:T p.(Arg797His) NC_000014.9:75047265:C:T Identity +NM_001846.4:c.4456G>A NP_001837.2:p.Val1486Ile NC_000013.11:110506467:G:A p.(Val1486Ile) NC_000013.11:110506467:G:A p.(Val1486Ile) NC_000013.11:110506467:G:A Identity +NM_021954.4:c.862C>T NP_068773.2:p.Pro288Ser NC_000013.11:20142426:G:A p.(Pro288Ser) NC_000013.11:20142426:G:A p.(Pro288Ser) NC_000013.11:20142426:G:A Identity +NM_001308133.2:c.496G>A NP_001295062.1:p.Ala166Thr NC_000014.9:45136526:G:A p.(Ala166Thr) NC_000014.9:45136526:G:A p.(Ala166Thr) NC_000014.9:45136526:G:A Identity +NM_015180.6:c.15263C>A NP_055995.4:p.Pro5088Gln NC_000014.9:64142044:C:A p.(Pro5088Gln) NC_000014.9:64142044:C:A p.(Pro5088Gln) NC_000014.9:64142044:C:A Identity +LRG_872t1:c.20245A>T LRG_872p1:p.Ile6749Phe NC_000014.9:64223242:A:T ERR:Data provider error: ValueError: Transcript LRG_872t1 not found ERR:Data provider error: ValueError: Transcript LRG_872t1 not found ERR:AlignmentMapper(tx_ac=LRG_872t1, alt_ac=LRG_872t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_872t1, alt_ac=LRG_872t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_872t1 not found +LRG_1130t1:c.4606G>C LRG_1130p1:p.Asp1536His NC_000014.9:64775360:C:G ERR:Data provider error: ValueError: Transcript LRG_1130t1 not found ERR:Data provider error: ValueError: Transcript LRG_1130t1 not found ERR:AlignmentMapper(tx_ac=LRG_1130t1, alt_ac=LRG_1130t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1130t1, alt_ac=LRG_1130t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1130t1 not found +NM_001031714.4:c.3478G>A NP_001026884.3:p.Gly1160Ser NC_000014.9:104714639:G:A p.(Gly1160Ser) NC_000014.9:104714639:G:A p.(Gly1160Ser) NC_000014.9:104714639:G:A Identity +NM_001201573.2:c.95G>A NP_001188502.1:p.Ser32Asn NC_000014.9:31673354:G:A p.(Ser32Asn) NC_000014.9:31673354:G:A p.(Ser32Asn) NC_000014.9:31673354:G:A Identity +NM_001308133.2:c.1802G>C NP_001295062.1:p.Arg601Pro NC_000014.9:45167040:G:C p.(Arg601Pro) NC_000014.9:45167040:G:C p.(Arg601Pro) NC_000014.9:45167040:G:C Identity +NM_000428.3:c.1301C>T NP_000419.1:p.Pro434Leu NC_000014.9:74552284:G:A p.(Pro434Leu) NC_000014.9:74552284:G:A p.(Pro434Leu) NC_000014.9:74552284:G:A Identity +NM_013382.7:c.1133A>G NP_037514.2:p.His378Arg NC_000014.9:77291363:T:C p.(His378Arg) NC_000014.9:77291363:T:C p.(His378Arg) NC_000014.9:77291363:T:C Identity +NM_018451.5:c.425T>C NP_060921.3:p.Leu142Pro NC_000013.11:24912600:A:G p.(Leu142Pro) NC_000013.11:24912600:A:G p.(Leu142Pro) NC_000013.11:24912600:A:G Identity +NM_000538.4:c.77C>G NP_000529.1:p.Pro26Arg NC_000013.11:36819433:C:G p.(Pro26Arg) NC_000013.11:36819433:C:G p.(Pro26Arg) NC_000013.11:36819433:C:G Identity +NM_207361.6:c.1603C>T NP_997244.4:p.Arg535Cys NC_000013.11:38688946:C:T p.(Arg535Cys) NC_000013.11:38688946:C:T p.(Arg535Cys) NC_000013.11:38688946:C:T Identity +NM_207361.6:c.5789C>T NP_997244.4:p.Pro1930Leu NC_000013.11:38784577:C:T p.(Pro1930Leu) NC_000013.11:38784577:C:T p.(Pro1930Leu) NC_000013.11:38784577:C:T Identity +NM_001024858.4:c.3479G>A NP_001020029.1:p.Arg1160His NC_000014.9:64786485:C:T p.(Arg1160His) NC_000014.9:64786485:C:T p.(Arg1160His) NC_000014.9:64786485:C:T Identity +NM_000428.3:c.3851G>A NP_000419.1:p.Arg1284His NC_000014.9:74507234:C:T p.(Arg1284His) NC_000014.9:74507234:C:T p.(Arg1284His) NC_000014.9:74507234:C:T Identity +NM_001127889.5:c.82G>C NP_001121361.1:p.Asp28His NC_000015.10:64981006:C:G p.(Asp28His) NC_000015.10:64981006:C:G p.(Asp28His) NC_000015.10:64981006:C:G Identity +NM_001320665.2:c.275C>T NP_001307594.1:p.Thr92Ile NC_000015.10:72715344:C:T p.(Thr92Ile) NC_000015.10:72715344:C:T p.(Thr92Ile) NC_000015.10:72715344:C:T Identity +NM_001321135.2:c.586G>A NP_001308064.1:p.Ala196Thr NC_000015.10:77030524:G:A p.(Ala196Thr) NC_000015.10:77030524:G:A p.(Ala196Thr) NC_000015.10:77030524:G:A Identity +NM_000326.5:c.191G>A NP_000317.1:p.Arg64Gln NC_000015.10:89217274:C:T p.(Arg64Gln) NC_000015.10:89217274:C:T p.(Arg64Gln) NC_000015.10:89217274:C:T Identity +NM_001321851.1:c.2380G>C NP_001308780.1:p.Val794Leu NC_000014.9:92005592:C:G p.(Val794Leu) NC_000014.9:92005592:C:G p.(Val794Leu) NC_000014.9:92005592:C:G Identity +NM_000070.3:c.1768G>A NP_000061.1:p.Val590Met NC_000015.10:42403762:G:A p.(Val590Met) NC_000015.10:42403762:G:A p.(Val590Met) NC_000015.10:42403762:G:A Identity +NM_001377948.1:c.1544A>G NP_001364877.1:p.His515Arg NC_000014.9:21326080:A:G p.(His515Arg) NC_000014.9:21326080:A:G p.(His515Arg) NC_000014.9:21326080:A:G Identity +NM_001024858.4:c.26A>C NP_001020029.1:p.Asn9Thr NC_000014.9:64823068:T:G p.(Asn9Thr) NC_000014.9:64823068:T:G p.(Asn9Thr) NC_000014.9:64823068:T:G Identity +NM_001194998.2:c.2523T>G NP_001181927.1:p.Ile841Met NC_000015.10:48762429:A:C p.(Ile841Met) NC_000015.10:48762429:A:C p.(Ile841Met) NC_000015.10:48762429:A:C Identity +NM_000338.3:c.3113G>A NP_000329.2:p.Arg1038Gln NC_000015.10:48301330:G:A p.(Arg1038Gln) NC_000015.10:48301330:G:A p.(Arg1038Gln) NC_000015.10:48301330:G:A Identity +NM_001194998.2:c.3433C>A NP_001181927.1:p.Pro1145Thr NC_000015.10:48752381:G:T p.(Pro1145Thr) NC_000015.10:48752381:G:T p.(Pro1145Thr) NC_000015.10:48752381:G:T Identity +NM_001194998.2:c.35T>C NP_001181927.1:p.Val12Ala NC_000015.10:48805614:A:G p.(Val12Ala) NC_000015.10:48805614:A:G p.(Val12Ala) NC_000015.10:48805614:A:G Identity +NM_000875.5:c.3925G>A NP_000866.1:p.Ala1309Thr NC_000015.10:98957262:G:A p.(Ala1309Thr) NC_000015.10:98957262:G:A p.(Ala1309Thr) NC_000015.10:98957262:G:A Identity +NM_000246.4:c.1376C>T NP_000237.2:p.Pro459Leu NC_000016.10:10906867:C:T p.(Pro459Leu) NC_000016.10:10906867:C:T p.(Pro459Leu) NC_000016.10:10906867:C:T Identity +NM_001040108.2:c.2825C>T NP_001035197.1:p.Thr942Ile NC_000014.9:75046830:G:A p.(Thr942Ile) NC_000014.9:75046830:G:A p.(Thr942Ile) NC_000014.9:75046830:G:A Identity +LRG_364t1:c.251A>G LRG_364p1:p.Tyr84Cys NC_000014.9:91937074:T:C ERR:Data provider error: ValueError: Transcript LRG_364t1 not found ERR:Data provider error: ValueError: Transcript LRG_364t1 not found ERR:AlignmentMapper(tx_ac=LRG_364t1, alt_ac=LRG_364t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_364t1, alt_ac=LRG_364t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_364t1 not found +NM_001101362.3:c.769G>C NP_001094832.1:p.Asp257His NC_000015.10:65077583:G:C p.(Asp257His) NC_000015.10:65077583:G:C p.(Asp257His) NC_000015.10:65077583:G:C Identity +NM_017882.3:c.349ATC[2] NP_060352.1:p.Ile119del NC_000015.10:68211803:GATGATGATG:GATGATG p.(Ile119del) NC_000015.10:68211811:T:GATGAT ERR:Parse ERR:Parse Identity +NM_005236.3:c.2266G>A NP_005227.1:p.Val756Met NC_000016.10:13947861:G:A p.(Val756Met) NC_000016.10:13947861:G:A p.(Val756Met) NC_000016.10:13947861:G:A Identity +NM_014714.4:c.1862G>A NP_055529.2:p.Arg621Gln NC_000016.10:1566199:C:T p.(Arg621Gln) NC_000016.10:1566199:C:T p.(Arg621Gln) NC_000016.10:1566199:C:T Identity +NM_000294.3:c.83A>T NP_000285.1:p.Asp28Val NC_000016.10:30748902:A:T p.(Asp28Val) NC_000016.10:30748902:A:T p.(Asp28Val) NC_000016.10:30748902:A:T Identity +NM_003041.4:c.1895A>C NP_003032.1:p.Glu632Ala NC_000016.10:31490410:A:C p.(Glu632Ala) NC_000016.10:31490410:A:C p.(Glu632Ala) NC_000016.10:31490410:A:C Identity +NM_001136472.2:c.44C>T NP_001129944.1:p.Ser15Leu NC_000016.10:11556686:G:A p.(Ser15Leu) NC_000016.10:11556686:G:A p.(Ser15Leu) NC_000016.10:11556686:G:A Identity +NM_001252020.2:c.2623A>G NP_001238949.1:p.Ile875Val NC_000015.10:31035673:T:C p.(Ile875Val) NC_000015.10:31035673:T:C p.(Ile875Val) NC_000015.10:31035673:T:C Identity +NM_001042494.2:c.835C>T NP_001035959.1:p.Arg279Cys NC_000015.10:34254453:G:A p.(Arg279Cys) NC_000015.10:34254453:G:A p.(Arg279Cys) NC_000015.10:34254453:G:A Identity +NM_144508.5:c.5235G>T NP_653091.3:p.Glu1745Asp NC_000015.10:40625498:G:T p.(Glu1745Asp) NC_000015.10:40625498:G:T p.(Glu1745Asp) NC_000015.10:40625498:G:T Identity +NM_000070.3:c.451C>G NP_000061.1:p.His151Asp NC_000015.10:42386237:C:G p.(His151Asp) NC_000015.10:42386237:C:G p.(His151Asp) NC_000015.10:42386237:C:G Identity +LRG_1164t1:c.3590A>T LRG_1164p1:p.Asn1197Ile NC_000015.10:42724584:T:A ERR:Data provider error: ValueError: Transcript LRG_1164t1 not found ERR:Data provider error: ValueError: Transcript LRG_1164t1 not found ERR:AlignmentMapper(tx_ac=LRG_1164t1, alt_ac=LRG_1164t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1164t1, alt_ac=LRG_1164t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1164t1 not found +NM_000119.3:c.1857C>A NP_000110.2:p.His619Gln NC_000015.10:43203126:G:T p.(His619Gln) NC_000015.10:43203126:G:T p.(His619Gln) NC_000015.10:43203126:G:T Identity +NM_001089.3:c.2659C>T NP_001080.2:p.Leu887Phe NC_000016.10:2289474:G:A p.(Leu887Phe) NC_000016.10:2289474:G:A p.(Leu887Phe) NC_000016.10:2289474:G:A Identity +NM_000339.3:c.1249G>A NP_000330.3:p.Glu417Lys NC_000016.10:56879140:G:A p.(Glu417Lys) NC_000016.10:56879140:G:A p.(Glu417Lys) NC_000016.10:56879140:G:A Identity +NM_001135639.2:c.802C>T NP_001129111.1:p.Pro268Ser NC_000016.10:57958444:G:A p.(Pro268Ser) NC_000016.10:57958444:G:A p.(Pro268Ser) NC_000016.10:57958444:G:A Identity +NM_001317195.3:c.1043G>A NP_001304124.1:p.Arg348Lys NC_000016.10:68682347:G:A p.(Arg348Lys) NC_000016.10:68682347:G:A p.(Arg348Lys) NC_000016.10:68682347:G:A Identity +NM_001089.3:c.3602T>A NP_001080.2:p.Phe1201Tyr NC_000016.10:2284879:A:T p.(Phe1201Tyr) NC_000016.10:2284879:A:T p.(Phe1201Tyr) NC_000016.10:2284879:A:T Identity +NM_004320.6:c.188G>A NP_004311.1:p.Arg63Gln NC_000016.10:28879551:G:A p.(Arg63Gln) NC_000016.10:28879551:G:A p.(Arg63Gln) NC_000016.10:28879551:G:A Identity +NM_001367624.2:c.4363C>G NP_001354553.1:p.Leu1455Val NC_000016.10:88431832:C:G p.(Leu1455Val) NC_000016.10:88431832:C:G p.(Leu1455Val) NC_000016.10:88431832:C:G Identity +NM_000236.3:c.1231G>A NP_000227.2:p.Gly411Ser NC_000015.10:58563565:G:A p.(Gly411Ser) NC_000015.10:58563565:G:A p.(Gly411Ser) NC_000015.10:58563565:G:A Identity +NM_001101362.3:c.751A>G NP_001094832.1:p.Thr251Ala NC_000015.10:65077565:A:G p.(Thr251Ala) NC_000015.10:65077565:A:G p.(Thr251Ala) NC_000015.10:65077565:A:G Identity +NM_198525.3:c.1390A>G NP_940927.2:p.Ile464Val NC_000015.10:89648307:T:C p.(Ile464Val) NC_000015.10:89648307:T:C p.(Ile464Val) NC_000015.10:89648307:T:C Identity +NM_000246.4:c.133C>G NP_000237.2:p.Leu45Val NC_000016.10:10895361:C:G p.(Leu45Val) NC_000016.10:10895361:C:G p.(Leu45Val) NC_000016.10:10895361:C:G Identity +NM_001043.3:c.848C>G NP_001034.1:p.Thr283Arg NC_000016.10:55691981:C:G p.(Thr283Arg) NC_000016.10:55691981:C:G p.(Thr283Arg) NC_000016.10:55691981:C:G Identity +NM_000339.3:c.81C>G NP_000330.3:p.Ser27Arg NC_000016.10:56865315:C:G p.(Ser27Arg) NC_000016.10:56865315:C:G p.(Ser27Arg) NC_000016.10:56865315:C:G Identity +NM_000339.3:c.1412C>A NP_000330.3:p.Ala471Asp NC_000016.10:56879617:C:A p.(Ala471Asp) NC_000016.10:56879617:C:A p.(Ala471Asp) NC_000016.10:56879617:C:A Identity +NM_001135639.2:c.299G>A NP_001129111.1:p.Arg100His NC_000016.10:57963055:C:T p.(Arg100His) NC_000016.10:57963055:C:T p.(Arg100His) NC_000016.10:57963055:C:T Identity +NM_021615.5:c.484C>G NP_067628.1:p.Arg162Gly NC_000016.10:75479344:G:C p.(Arg162Gly) NC_000016.10:75479344:G:C p.(Arg162Gly) NC_000016.10:75479344:G:C Identity +NM_006445.4:c.1869G>C NP_006436.3:p.Lys623Asn NC_000017.11:1677679:C:G p.(Lys623Asn) NC_000017.11:1677679:C:G p.(Lys623Asn) NC_000017.11:1677679:C:G Identity +NM_001258205.2:c.1105C>T NP_001245134.1:p.Arg369Trp NC_000017.11:3530163:G:A p.(Arg369Trp) NC_000017.11:3530163:G:A p.(Arg369Trp) NC_000017.11:3530163:G:A Identity +NM_001031681.3:c.444G>A NP_001026851.2:p.Met148Ile NC_000017.11:3655334:G:A p.(Met148Ile) NC_000017.11:3655334:G:A p.(Met148Ile) NC_000017.11:3655334:G:A Identity +NM_005236.3:c.1463A>G NP_005227.1:p.Lys488Arg NC_000016.10:13935394:A:G p.(Lys488Arg) NC_000016.10:13935394:A:G p.(Lys488Arg) NC_000016.10:13935394:A:G Identity +NM_001195139.2:c.1619C>T NP_001182068.2:p.Ala540Val NC_000016.10:70496281:G:A p.(Ala540Val) NC_000016.10:70496281:G:A p.(Ala540Val) NC_000016.10:70496281:G:A Identity +NM_001367624.2:c.869C>T NP_001354553.1:p.Ala290Val NC_000016.10:88428338:C:T p.(Ala290Val) NC_000016.10:88428338:C:T p.(Ala290Val) NC_000016.10:88428338:C:T Identity +NM_001367624.2:c.6665T>C NP_001354553.1:p.Leu2222Pro NC_000016.10:88434134:T:C p.(Leu2222Pro) NC_000016.10:88434134:T:C p.(Leu2222Pro) NC_000016.10:88434134:T:C Identity +NM_001367624.2:c.7508C>A NP_001354553.1:p.Ala2503Glu NC_000016.10:88434977:C:A p.(Ala2503Glu) NC_000016.10:88434977:C:A p.(Ala2503Glu) NC_000016.10:88434977:C:A Identity +NM_001367624.2:c.6944C>G NP_001354553.1:p.Pro2315Arg NC_000016.10:88434413:C:G p.(Pro2315Arg) NC_000016.10:88434413:C:G p.(Pro2315Arg) NC_000016.10:88434413:C:G Identity +NM_001367624.2:c.10325G>T NP_001354553.1:p.Arg3442Met NC_000016.10:88437794:G:T p.(Arg3442Met) NC_000016.10:88437794:G:T p.(Arg3442Met) NC_000016.10:88437794:G:T Identity +NM_000512.5:c.1186G>A NP_000503.1:p.Gly396Arg NC_000016.10:88824822:C:T p.(Gly396Arg) NC_000016.10:88824822:C:T p.(Gly396Arg) NC_000016.10:88824822:C:T Identity +NM_001004334.4:c.3806C>T NP_001004334.3:p.Thr1269Met NC_000017.11:38329762:G:A p.(Thr1269Met) NC_000017.11:38329762:G:A p.(Thr1269Met) NC_000017.11:38329762:G:A Identity +NM_032387.5:c.16G>A NP_115763.2:p.Ala6Thr NC_000017.11:42780713:G:A p.(Ala6Thr) NC_000017.11:42780713:G:A p.(Ala6Thr) NC_000017.11:42780713:G:A Identity +NM_000151.4:c.81G>C NP_000142.2:p.Gln27His NC_000017.11:42900956:G:C p.(Gln27His) NC_000017.11:42900956:G:C p.(Gln27His) NC_000017.11:42900956:G:C Identity +NM_000747.3:c.565G>A NP_000738.2:p.Gly189Arg NC_000017.11:7447604:G:A p.(Gly189Arg) NC_000017.11:7447604:G:A p.(Gly189Arg) NC_000017.11:7447604:G:A Identity +NM_003041.4:c.1982T>C NP_003032.1:p.Met661Thr NC_000016.10:31490497:T:C p.(Met661Thr) NC_000016.10:31490497:T:C p.(Met661Thr) NC_000016.10:31490497:T:C Identity +NM_001318918.2:c.1335G>C NP_001305847.1:p.Glu445Asp NC_000016.10:4337283:G:C p.(Glu445Asp) NC_000016.10:4337283:G:C p.(Glu445Asp) NC_000016.10:4337283:G:C Identity +NM_001293557.2:c.1235G>A NP_001280486.1:p.Arg412His NC_000016.10:50711226:G:A p.(Arg412His) NC_000016.10:50711226:G:A p.(Arg412His) NC_000016.10:50711226:G:A Identity +NM_207346.3:c.13C>T NP_997229.2:p.Pro5Ser NC_000017.11:75516572:C:T p.(Pro5Ser) NC_000017.11:75516572:C:T p.(Pro5Ser) NC_000017.11:75516572:C:T Identity +LRG_1264t1:c.1040C>T LRG_1264p1:p.Pro347Leu NC_000017.11:8079426:G:A ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found +NM_016239.4:c.6863C>T NP_057323.3:p.Ser2288Leu NC_000017.11:18148858:C:T p.(Ser2288Leu) NC_000017.11:18148858:C:T p.(Ser2288Leu) NC_000017.11:18148858:C:T Identity +NM_001254.4:c.597C>G NP_001245.1:p.Tyr199Ter NC_000017.11:40291604:C:G p.(Tyr199Ter) NC_000017.11:40291604:C:G p.(Tyr199Ter) NC_000017.11:40291604:C:G Identity +NM_001293557.2:c.2623C>A NP_001280486.1:p.Gln875Lys NC_000016.10:50719997:C:A p.(Gln875Lys) NC_000016.10:50719997:C:A p.(Gln875Lys) NC_000016.10:50719997:C:A Identity +NM_001127892.2:c.385G>A NP_001121364.1:p.Val129Ile NC_000016.10:51141545:C:T p.(Val129Ile) NC_000016.10:51141545:C:T p.(Val129Ile) NC_000016.10:51141545:C:T Identity +NM_001127897.4:c.2201G>A NP_001121369.1:p.Arg734Gln NC_000016.10:53649066:C:T p.(Arg734Gln) NC_000016.10:53649066:C:T p.(Arg734Gln) NC_000016.10:53649066:C:T Identity +NM_001127897.4:c.1584G>A NP_001121369.1:p.Met528Ile NC_000016.10:53656586:C:T p.(Met528Ile) NC_000016.10:53656586:C:T p.(Met528Ile) NC_000016.10:53656586:C:T Identity +NM_000212.3:c.1309_1311del NP_000203.2:p.Glu437del NC_000017.11:47292184:AGGAG:AG p.(Glu437del) NC_000017.11:47292184:AGGAG:AG p.(Glu437del) NC_000017.11:47292186:GAG: Identity +NM_001976.5:c.254T>C NP_001967.3:p.Val85Ala NC_000017.11:4953284:T:C p.(Val85Ala) NC_000017.11:4953284:T:C p.(Val85Ala) NC_000017.11:4953284:T:C Identity +NM_001005207.5:c.1178A>G NP_001005207.1:p.Gln393Arg NC_000017.11:59056895:T:C p.(Gln393Arg) NC_000017.11:59056895:T:C p.(Gln393Arg) NC_000017.11:59056895:T:C Identity +NM_018714.3:c.2605G>A NP_061184.1:p.Val869Met NC_000017.11:73206247:G:A p.(Val869Met) NC_000017.11:73206247:G:A p.(Val869Met) NC_000017.11:73206247:G:A Identity +NM_001384474.1:c.1714A>C NP_001371403.1:p.Asn572His NC_000018.10:46579724:T:G p.(Asn572His) NC_000018.10:46579724:T:G p.(Asn572His) NC_000018.10:46579724:T:G Identity +NM_021939.4:c.1016G>A NP_068758.3:p.Arg339Gln NC_000017.11:41819627:G:A p.(Arg339Gln) NC_000017.11:41819627:G:A p.(Arg339Gln) NC_000017.11:41819627:G:A Identity +NM_001321269.2:c.491G>A NP_001308198.1:p.Arg164His NC_000017.11:58214764:C:T p.(Arg164His) NC_000017.11:58214764:C:T p.(Arg164His) NC_000017.11:58214764:C:T Identity +NM_000717.5:c.449C>T NP_000708.1:p.Ser150Leu NC_000017.11:60157723:C:T p.(Ser150Leu) NC_000017.11:60157723:C:T p.(Ser150Leu) NC_000017.11:60157723:C:T Identity +NM_001005498.4:c.1960G>T NP_001005498.2:p.Asp654Tyr NC_000017.11:76472789:C:A p.(Asp654Tyr) NC_000017.11:76472789:C:A p.(Asp654Tyr) NC_000017.11:76472789:C:A Identity +NM_001080467.3:c.3917C>T NP_001073936.1:p.Ala1306Val NC_000018.10:49863253:G:A p.(Ala1306Val) NC_000018.10:49863253:G:A p.(Ala1306Val) NC_000018.10:49863253:G:A Identity +LRG_1209t1:c.541C>T LRG_1209p1:p.Pro181Ser NC_000018.10:59466750:G:A ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found ERR:AlignmentMapper(tx_ac=LRG_1209t1, alt_ac=LRG_1209t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1209t1, alt_ac=LRG_1209t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1209t1 not found +NM_000528.4:c.2701C>A NP_000519.2:p.His901Asn NC_000019.10:12647561:G:T p.(His901Asn) NC_000019.10:12647561:G:T p.(His901Asn) NC_000019.10:12647561:G:T Identity +NM_001367624.2:c.6470G>A NP_001354553.1:p.Arg2157Lys NC_000016.10:88433939:G:A p.(Arg2157Lys) NC_000016.10:88433939:G:A p.(Arg2157Lys) NC_000016.10:88433939:G:A Identity +NM_001113525.2:c.1753A>G NP_001106997.1:p.Lys585Glu NC_000016.10:89738153:A:G p.(Lys585Glu) NC_000016.10:89738153:A:G p.(Lys585Glu) NC_000016.10:89738153:A:G Identity +NM_002472.3:c.2117G>A NP_002463.2:p.Arg706His NC_000017.11:10406743:C:T p.(Arg706His) NC_000017.11:10406743:C:T p.(Arg706His) NC_000017.11:10406743:C:T Identity +NM_002470.4:c.3173G>A NP_002461.2:p.Gly1058Glu NC_000017.11:10639118:C:T p.(Gly1058Glu) NC_000017.11:10639118:C:T p.(Gly1058Glu) NC_000017.11:10639118:C:T Identity +NM_001329903.2:c.713C>T NP_001316832.1:p.Thr238Ile NC_000017.11:1775126:C:T p.(Thr238Ile) NC_000017.11:1775126:C:T p.(Thr238Ile) NC_000017.11:1775126:C:T Identity +NM_001353229.2:c.1484G>A NP_001340158.1:p.Arg495Gln NC_000017.11:17215186:C:T p.(Arg495Gln) NC_000017.11:17215186:C:T p.(Arg495Gln) NC_000017.11:17215186:C:T Identity +NM_016239.4:c.1450C>G NP_057323.3:p.Gln484Glu NC_000017.11:18120249:C:G p.(Gln484Glu) NC_000017.11:18120249:C:G p.(Gln484Glu) NC_000017.11:18120249:C:G Identity +NM_016239.4:c.10442C>T NP_057323.3:p.Ala3481Val NC_000017.11:18173871:C:T p.(Ala3481Val) NC_000017.11:18173871:C:T p.(Ala3481Val) NC_000017.11:18173871:C:T Identity +NM_001369369.1:c.1657A>G NP_001356298.1:p.Ser553Gly NC_000017.11:28537145:A:G p.(Ser553Gly) NC_000017.11:28537145:A:G p.(Ser553Gly) NC_000017.11:28537145:A:G Identity +NM_000435.3:c.6532C>T NP_000426.2:p.Pro2178Ser NC_000019.10:15161095:G:A p.(Pro2178Ser) NC_000019.10:15161095:G:A p.(Pro2178Ser) NC_000019.10:15161095:G:A Identity +NM_001083961.2:c.821A>G NP_001077430.1:p.Tyr274Cys NC_000019.10:36067948:A:G p.(Tyr274Cys) NC_000019.10:36067948:A:G p.(Tyr274Cys) NC_000019.10:36067948:A:G Identity +NM_000540.3:c.4292C>T NP_000531.2:p.Thr1431Met NC_000019.10:38475448:C:T p.(Thr1431Met) NC_000019.10:38475448:C:T p.(Thr1431Met) NC_000019.10:38475448:C:T Identity +NM_000540.3:c.6023T>C NP_000531.2:p.Met2008Thr NC_000019.10:38490627:T:C p.(Met2008Thr) NC_000019.10:38490627:T:C p.(Met2008Thr) NC_000019.10:38490627:T:C Identity +LRG_1150t1:c.1879C>T LRG_1150p1:p.Arg627Cys NC_000018.10:44951218:C:T ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found +NM_001384474.1:c.572A>G NP_001371403.1:p.Asp191Gly NC_000018.10:46618229:T:C p.(Asp191Gly) NC_000018.10:46618229:T:C p.(Asp191Gly) NC_000018.10:46618229:T:C Identity +NM_005570.4:c.41G>A NP_005561.1:p.Arg14Gln NC_000018.10:59359203:C:T p.(Arg14Gln) NC_000018.10:59359203:C:T p.(Arg14Gln) NC_000018.10:59359203:C:T Identity +NM_000064.4:c.4645C>A NP_000055.2:p.Leu1549Met NC_000019.10:6678440:G:T p.(Leu1549Met) NC_000019.10:6678440:G:T p.(Leu1549Met) NC_000019.10:6678440:G:T Identity +NM_020533.3:c.949G>A NP_065394.1:p.Ala317Thr NC_000019.10:7528667:G:A p.(Ala317Thr) NC_000019.10:7528667:G:A p.(Ala317Thr) NC_000019.10:7528667:G:A Identity +NM_007215.4:c.674G>A NP_009146.2:p.Arg225Gln NC_000017.11:64492909:C:T p.(Arg225Gln) NC_000017.11:64492909:C:T p.(Arg225Gln) NC_000017.11:64492909:C:T Identity +NM_000154.2:c.995C>T NP_000145.1:p.Ala332Val NC_000017.11:75758321:G:A p.(Ala332Val) NC_000017.11:75758321:G:A p.(Ala332Val) NC_000017.11:75758321:G:A Identity +NM_173483.4:c.461G>A NP_775754.2:p.Arg154Gln NC_000019.10:15537573:G:A p.(Arg154Gln) NC_000019.10:15537573:G:A p.(Arg154Gln) NC_000019.10:15537573:G:A Identity +NM_000540.3:c.4637A>G NP_000531.2:p.Lys1546Arg NC_000019.10:38483042:A:G p.(Lys1546Arg) NC_000019.10:38483042:A:G p.(Lys1546Arg) NC_000019.10:38483042:A:G Identity +NM_000540.3:c.6407G>A NP_000531.2:p.Arg2136His NC_000019.10:38494483:G:A p.(Arg2136His) NC_000019.10:38494483:G:A p.(Arg2136His) NC_000019.10:38494483:G:A Identity +NM_002299.4:c.5656G>A NP_002290.2:p.Val1886Ile NC_000002.12:135788451:C:T p.(Val1886Ile) NC_000002.12:135788451:C:T p.(Val1886Ile) NC_000002.12:135788451:C:T Identity +NM_001378120.1:c.5131G>A NP_001365049.1:p.Gly1711Ser NC_000002.12:148512887:G:A p.(Gly1711Ser) NC_000002.12:148512887:G:A p.(Gly1711Ser) NC_000002.12:148512887:G:A Identity +NM_015702.3:c.87A>C NP_056517.1:p.Lys29Asn NC_000002.12:149582193:T:G p.(Lys29Asn) NC_000002.12:149582193:T:G p.(Lys29Asn) NC_000002.12:149582193:T:G Identity +NM_001164507.2:c.6067A>G NP_001157979.2:p.Met2023Val NC_000002.12:151659072:T:C p.(Met2023Val) NC_000002.12:151659072:T:C p.(Met2023Val) NC_000002.12:151659072:T:C Identity +NM_001289123.2:c.92C>T NP_001276052.1:p.Ala31Val NC_000019.10:6502273:G:A p.(Ala31Val) NC_000019.10:6502273:G:A p.(Ala31Val) NC_000019.10:6502273:G:A Identity +NM_020533.3:c.16G>T NP_065394.1:p.Gly6Cys NC_000019.10:7522765:G:T p.(Gly6Cys) NC_000019.10:7522765:G:T p.(Gly6Cys) NC_000019.10:7522765:G:T Identity +NM_000227.6:c.2900A>G NP_000218.3:p.Asn967Ser NC_000018.10:23915370:A:G p.(Asn967Ser) NC_000018.10:23915370:A:G p.(Asn967Ser) NC_000018.10:23915370:A:G Identity +NM_000227.6:c.3946G>A NP_000218.3:p.Gly1316Arg NC_000018.10:23933845:G:A p.(Gly1316Arg) NC_000018.10:23933845:G:A p.(Gly1316Arg) NC_000018.10:23933845:G:A Identity +NM_001164821.2:c.913A>G NP_001158293.1:p.Ile305Val NC_000002.12:171468961:A:G p.(Ile305Val) NC_000002.12:171468961:A:G p.(Ile305Val) NC_000002.12:171468961:A:G Identity +NM_000210.4:c.1744A>G NP_000201.2:p.Ile582Val NC_000002.12:172485153:A:G p.(Ile582Val) NC_000002.12:172485153:A:G p.(Ile582Val) NC_000002.12:172485153:A:G Identity +NM_022336.4:c.1183A>G NP_071731.1:p.Met395Val NC_000002.12:108897070:T:C p.(Met395Val) NC_000002.12:108897070:T:C p.(Met395Val) NC_000002.12:108897070:T:C Identity +NM_003466.4:c.1060C>G NP_003457.1:p.Gln354Glu NC_000002.12:113235420:G:C p.(Gln354Glu) NC_000002.12:113235420:G:C p.(Gln354Glu) NC_000002.12:113235420:G:C Identity +NM_001172435.2:c.944G>A NP_001165906.1:p.Arg315Gln NC_000002.12:135126626:G:A p.(Arg315Gln) NC_000002.12:135126626:G:A p.(Arg315Gln) NC_000002.12:135126626:G:A Identity +NM_002299.4:c.3286G>A NP_002290.2:p.Ala1096Thr NC_000002.12:135809060:C:T p.(Ala1096Thr) NC_000002.12:135809060:C:T p.(Ala1096Thr) NC_000002.12:135809060:C:T Identity +NM_001256850.1:c.67574G>A NP_001243779.1:p.Ser22525Asn NC_000002.12:178573634:C:T p.(Ser22525Asn) NC_000002.12:178573634:C:T p.(Ser22525Asn) NC_000002.12:178573634:C:T Identity +NM_001256850.1:c.55420G>A NP_001243779.1:p.Asp18474Asn NC_000002.12:178591381:C:T p.(Asp18474Asn) NC_000002.12:178591381:C:T p.(Asp18474Asn) NC_000002.12:178591381:C:T Identity +NM_001134453.3:c.3077T>C NP_001127925.1:p.Met1026Thr NC_000018.10:31413491:T:C p.(Met1026Thr) NC_000018.10:31413491:T:C p.(Met1026Thr) NC_000018.10:31413491:T:C Identity +NM_001353210.3:c.958C>T NP_001340139.1:p.Pro320Ser NC_000018.10:49282160:G:A p.(Pro320Ser) NC_000018.10:49282160:G:A p.(Pro320Ser) NC_000018.10:49282160:G:A Identity +NM_001080467.3:c.926G>A NP_001073936.1:p.Arg309Gln NC_000018.10:49984737:C:T p.(Arg309Gln) NC_000018.10:49984737:C:T p.(Arg309Gln) NC_000018.10:49984737:C:T Identity +LRG_1199t1:c.2905A>G LRG_1199p1:p.Lys969Glu NC_000002.12:168935334:T:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_015040.4:c.2549C>T NP_055855.2:p.Ala850Val NC_000002.12:208325359:C:T p.(Ala850Val) NC_000002.12:208325359:C:T p.(Ala850Val) NC_000002.12:208325359:C:T Identity +NM_015040.4:c.5594C>T NP_055855.2:p.Ala1865Val NC_000002.12:208350929:C:T p.(Ala1865Val) NC_000002.12:208350929:C:T p.(Ala1865Val) NC_000002.12:208350929:C:T Identity +NM_000384.3:c.7939A>C NP_000375.3:p.Thr2647Pro NC_000002.12:21008928:T:G p.(Thr2647Pro) NC_000002.12:21008928:T:G p.(Thr2647Pro) NC_000002.12:21008928:T:G Identity +NM_000199.5:c.1328G>A NP_000190.1:p.Arg443Gln NC_000017.11:80210632:C:T p.(Arg443Gln) NC_000017.11:80210632:C:T p.(Arg443Gln) NC_000017.11:80210632:C:T Identity +NM_001256850.1:c.47219T>C NP_001243779.1:p.Ile15740Thr NC_000002.12:178608868:A:G p.(Ile15740Thr) NC_000002.12:178608868:A:G p.(Ile15740Thr) NC_000002.12:178608868:A:G Identity +NM_001256850.1:c.41056C>T NP_001243779.1:p.Arg13686Cys NC_000002.12:178620541:G:A p.(Arg13686Cys) NC_000002.12:178620541:G:A p.(Arg13686Cys) NC_000002.12:178620541:G:A Identity +NM_001001329.3:c.823G>A NP_001001329.1:p.Ala275Thr NC_000019.10:11447133:G:A p.(Ala275Thr) NC_000019.10:11447133:G:A p.(Ala275Thr) NC_000019.10:11447133:G:A Identity +NM_000528.4:c.1435G>T NP_000519.2:p.Ala479Ser NC_000019.10:12657040:C:A p.(Ala479Ser) NC_000019.10:12657040:C:A p.(Ala479Ser) NC_000019.10:12657040:C:A Identity +NM_000435.3:c.338G>A NP_000426.2:p.Arg113Gln NC_000019.10:15192378:C:T p.(Arg113Gln) NC_000019.10:15192378:C:T p.(Arg113Gln) NC_000019.10:15192378:C:T Identity +NM_001126335.2:c.827C>T NP_001119807.1:p.Thr276Ile NC_000019.10:32859886:G:A p.(Thr276Ile) NC_000019.10:32859886:G:A p.(Thr276Ile) NC_000019.10:32859886:G:A Identity +NM_002181.4:c.755A>G NP_002172.2:p.His252Arg NC_000002.12:219055687:T:C p.(His252Arg) NC_000002.12:219055687:T:C p.(His252Arg) NC_000002.12:219055687:T:C Identity +NM_001173408.2:c.82G>C NP_001166879.1:p.Glu28Gln NC_000002.12:219571150:C:G p.(Glu28Gln) NC_000002.12:219571150:C:G p.(Glu28Gln) NC_000002.12:219571150:C:G Identity +NM_001384474.1:c.2839G>A NP_001371403.1:p.Asp947Asn NC_000018.10:46560304:C:T p.(Asp947Asn) NC_000018.10:46560304:C:T p.(Asp947Asn) NC_000018.10:46560304:C:T Identity +NM_001384474.1:c.409C>T NP_001371403.1:p.Arg137Cys NC_000018.10:46639717:G:A p.(Arg137Cys) NC_000018.10:46639717:G:A p.(Arg137Cys) NC_000018.10:46639717:G:A Identity +NM_001080467.3:c.2590G>A NP_001073936.1:p.Ala864Thr NC_000018.10:49902814:C:T p.(Ala864Thr) NC_000018.10:49902814:C:T p.(Ala864Thr) NC_000018.10:49902814:C:T Identity +NM_005570.4:c.821C>T NP_005561.1:p.Pro274Leu NC_000018.10:59347513:G:A p.(Pro274Leu) NC_000018.10:59347513:G:A p.(Pro274Leu) NC_000018.10:59347513:G:A Identity +NM_003331.5:c.2017G>T NP_003322.3:p.Val673Leu NC_000019.10:10361540:C:A p.(Val673Leu) NC_000019.10:10361540:C:A p.(Val673Leu) NC_000019.10:10361540:C:A Identity +NM_001005360.3:c.2560G>T NP_001005360.1:p.Ala854Ser NC_000019.10:10830993:G:T p.(Ala854Ser) NC_000019.10:10830993:G:T p.(Ala854Ser) NC_000019.10:10830993:G:T Identity +NM_004369.4:c.4108G>T NP_004360.2:p.Ala1370Ser NC_000002.12:237371908:C:A p.(Ala1370Ser) NC_000002.12:237371908:C:A p.(Ala1370Ser) NC_000002.12:237371908:C:A Identity +NM_004369.4:c.1562C>T NP_004360.2:p.Ser521Leu NC_000002.12:237381249:G:A p.(Ser521Leu) NC_000002.12:237381249:G:A p.(Ser521Leu) NC_000002.12:237381249:G:A Identity +NM_000092.5:c.2516C>T NP_000083.3:p.Pro839Leu NC_000002.12:227057467:G:A p.(Pro839Leu) NC_000002.12:227057467:G:A p.(Pro839Leu) NC_000002.12:227057467:G:A Identity +NM_004369.4:c.5833G>A NP_004360.2:p.Val1945Met NC_000002.12:237365702:C:T p.(Val1945Met) NC_000002.12:237365702:C:T p.(Val1945Met) NC_000002.12:237365702:C:T Identity +NM_000540.3:c.12802G>A NP_000531.2:p.Ala4268Thr NC_000019.10:38565135:G:A p.(Ala4268Thr) NC_000019.10:38565135:G:A p.(Ala4268Thr) NC_000019.10:38565135:G:A Identity +NM_001195227.2:c.2239C>T NP_001182156.1:p.Arg747Cys NC_000019.10:49200327:C:T p.(Arg747Cys) NC_000019.10:49200327:C:T p.(Arg747Cys) NC_000019.10:49200327:C:T Identity +NM_002618.4:c.193A>G NP_002609.1:p.Ser65Gly NC_000002.12:61031518:A:G p.(Ser65Gly) NC_000002.12:61031518:A:G p.(Ser65Gly) NC_000002.12:61031518:A:G Identity +NM_022436.3:c.281C>G NP_071881.1:p.Thr94Arg NC_000002.12:43832067:G:C p.(Thr94Arg) NC_000002.12:43832067:G:C p.(Thr94Arg) NC_000002.12:43832067:G:C Identity +NM_001430.5:c.146C>A NP_001421.2:p.Ser49Tyr NC_000002.12:46346991:C:A p.(Ser49Tyr) NC_000002.12:46346991:C:A p.(Ser49Tyr) NC_000002.12:46346991:C:A Identity +NM_022336.4:c.607G>A NP_071731.1:p.Val203Ile NC_000002.12:108910994:C:T p.(Val203Ile) NC_000002.12:108910994:C:T p.(Val203Ile) NC_000002.12:108910994:C:T Identity +NM_014014.5:c.5665G>A NP_054733.2:p.Val1889Ile NC_000002.12:96277895:C:T p.(Val1889Ile) NC_000002.12:96277895:C:T p.(Val1889Ile) NC_000002.12:96277895:C:T Identity +NM_001394149.2:c.68A>G NP_001381078.1:p.His23Arg NC_000020.11:10413819:T:C p.(His23Arg) NC_000020.11:10413819:T:C p.(His23Arg) NC_000020.11:10413819:T:C Identity +NM_000311.5:c.252T>C NP_000302.1:p.Pro84= NC_000020.11:4699471:T:C p.(Pro84=) NC_000020.11:4699471:T:C p.(Pro84=) NC_000020.11:4699471:T:C Identity +NM_020436.5:c.2218C>G NP_065169.1:p.Pro740Ala NC_000020.11:51790264:G:C p.(Pro740Ala) NC_000020.11:51790264:G:C p.(Pro740Ala) NC_000020.11:51790264:G:C Identity +NM_001164507.2:c.2354A>G NP_001157979.2:p.His785Arg NC_000002.12:151688352:T:C p.(His785Arg) NC_000002.12:151688352:T:C p.(His785Arg) NC_000002.12:151688352:T:C Identity +NM_001201543.2:c.1841G>A NP_001188472.1:p.Arg614Lys NC_000002.12:61836019:C:T p.(Arg614Lys) NC_000002.12:61836019:C:T p.(Arg614Lys) NC_000002.12:61836019:C:T Identity +NM_001201543.2:c.1270G>A NP_001188472.1:p.Val424Ile NC_000002.12:61839733:C:T p.(Val424Ile) NC_000002.12:61839733:C:T p.(Val424Ile) NC_000002.12:61839733:C:T Identity +NM_001378454.1:c.6458A>G NP_001365383.1:p.Gln2153Arg NC_000002.12:73452984:A:G p.(Gln2153Arg) NC_000002.12:73452984:A:G p.(Gln2153Arg) NC_000002.12:73452984:A:G Identity +NM_000528.4:c.719G>A NP_000519.2:p.Arg240Gln NC_000019.10:12663746:C:T p.(Arg240Gln) NC_000019.10:12663746:C:T p.(Arg240Gln) NC_000019.10:12663746:C:T Identity +NM_000435.3:c.2588C>T NP_000426.2:p.Ser863Leu NC_000019.10:15181779:G:A p.(Ser863Leu) NC_000019.10:15181779:G:A p.(Ser863Leu) NC_000019.10:15181779:G:A Identity +NM_020639.3:c.35C>G NP_065690.2:p.Ala12Gly NC_000021.9:41767006:G:C p.(Ala12Gly) NC_000021.9:41767006:G:C p.(Ala12Gly) NC_000021.9:41767006:G:C Identity +NM_001379500.1:c.2788G>A NP_001366429.1:p.Gly930Ser NC_000021.9:45504475:G:A p.(Gly930Ser) NC_000021.9:45504475:G:A p.(Gly930Ser) NC_000021.9:45504475:G:A Identity +NM_001315529.2:c.1617C>G NP_001302458.1:p.Asp539Glu NC_000021.9:46357007:C:G p.(Asp539Glu) NC_000021.9:46357007:C:G p.(Asp539Glu) NC_000021.9:46357007:C:G Identity +NM_001365536.1:c.2852T>C NP_001352465.1:p.Val951Ala NC_000002.12:166277004:A:G p.(Val951Ala) NC_000002.12:166277004:A:G p.(Val951Ala) NC_000002.12:166277004:A:G Identity +NM_000817.3:c.380A>T NP_000808.2:p.Tyr127Phe NC_000002.12:170831024:A:T p.(Tyr127Phe) NC_000002.12:170831024:A:T p.(Tyr127Phe) NC_000002.12:170831024:A:T Identity +NM_001164821.2:c.1225T>C NP_001158293.1:p.Tyr409His NC_000002.12:171480976:T:C p.(Tyr409His) NC_000002.12:171480976:T:C p.(Tyr409His) NC_000002.12:171480976:T:C Identity +NM_000210.4:c.2819C>T NP_000201.2:p.Pro940Leu NC_000002.12:172491260:C:T p.(Pro940Leu) NC_000002.12:172491260:C:T p.(Pro940Leu) NC_000002.12:172491260:C:T Identity +NM_001363729.2:c.1393C>A NP_001350658.1:p.Gln465Lys NC_000020.11:36905380:G:T p.(Gln465Lys) NC_000020.11:36905380:G:T p.(Gln465Lys) NC_000020.11:36905380:G:T Identity +NM_000355.4:c.265T>C NP_000346.2:p.Phe89Leu NC_000022.11:30612879:T:C p.(Phe89Leu) NC_000022.11:30612879:T:C p.(Phe89Leu) NC_000022.11:30612879:T:C Identity +NM_001256850.1:c.78269T>C NP_001243779.1:p.Leu26090Ser NC_000002.12:178562939:A:G p.(Leu26090Ser) NC_000002.12:178562939:A:G p.(Leu26090Ser) NC_000002.12:178562939:A:G Identity +NM_133378.4:c.10000G>A NP_596869.4:p.Val3334Met NC_000002.12:178764290:C:T p.(Val3334Met) NC_000002.12:178764290:C:T p.(Val3334Met) NC_000002.12:178764290:C:T Identity +NM_002500.5:c.646G>A NP_002491.3:p.Val216Ile NC_000002.12:181678214:C:T p.(Val216Ile) NC_000002.12:181678214:C:T p.(Val216Ile) NC_000002.12:181678214:C:T Identity +NM_000540.3:c.13352C>A NP_000531.2:p.Ala4451Asp NC_000019.10:38565685:C:A p.(Ala4451Asp) NC_000019.10:38565685:C:A p.(Ala4451Asp) NC_000019.10:38565685:C:A Identity +NM_001042544.1:c.2036C>T NP_001036009.1:p.Pro679Leu NC_000019.10:40611175:C:T p.(Pro679Leu) NC_000019.10:40611175:C:T p.(Pro679Leu) NC_000019.10:40611175:C:T Identity +NM_000709.4:c.842G>T NP_000700.1:p.Gly281Val NC_000019.10:41422358:G:T p.(Gly281Val) NC_000019.10:41422358:G:T p.(Gly281Val) NC_000019.10:41422358:G:T Identity +NM_001077186.2:c.866T>C NP_001070654.1:p.Ile289Thr NC_000019.10:50226957:T:C p.(Ile289Thr) NC_000019.10:50226957:T:C p.(Ile289Thr) NC_000019.10:50226957:T:C Identity +NM_001318889.2:c.680G>A NP_001305818.1:p.Arg227Gln NC_000003.12:111579162:G:A p.(Arg227Gln) NC_000003.12:111579162:G:A p.(Arg227Gln) NC_000003.12:111579162:G:A Identity +NM_014049.5:c.1258C>T NP_054768.2:p.Arg420Cys NC_000003.12:128906228:C:T p.(Arg420Cys) NC_000003.12:128906228:C:T p.(Arg420Cys) NC_000003.12:128906228:C:T Identity +NM_015192.4:c.2570C>T NP_056007.1:p.Thr857Met NC_000020.11:8757091:C:T p.(Thr857Met) NC_000020.11:8757091:C:T p.(Thr857Met) NC_000020.11:8757091:C:T Identity +NM_015040.4:c.2164A>G NP_055855.2:p.Thr722Ala NC_000002.12:208320332:A:G p.(Thr722Ala) NC_000002.12:208320332:A:G p.(Thr722Ala) NC_000002.12:208320332:A:G Identity +NM_001308164.2:c.1400A>G NP_001295093.1:p.Asp467Gly NC_000003.12:158662646:A:G p.(Asp467Gly) NC_000003.12:158662646:A:G p.(Asp467Gly) NC_000003.12:158662646:A:G Identity +NM_001190241.2:c.1345A>T NP_001177170.1:p.Thr449Ser NC_000003.12:160279272:T:A p.(Thr449Ser) NC_000003.12:160279272:T:A p.(Thr449Ser) NC_000003.12:160279272:T:A Identity +NM_001315529.2:c.7762G>A NP_001302458.1:p.Val2588Met NC_000021.9:46431579:G:A p.(Val2588Met) NC_000021.9:46431579:G:A p.(Val2588Met) NC_000021.9:46431579:G:A Identity +NM_004076.5:c.38C>G NP_004067.1:p.Ala13Gly NC_000022.11:25201433:C:G p.(Ala13Gly) NC_000022.11:25201433:C:G p.(Ala13Gly) NC_000022.11:25201433:C:G Identity +NM_001349896.1:c.1747G>A NP_001336825.1:p.Glu583Lys NC_000022.11:26458543:C:T p.(Glu583Lys) NC_000022.11:26458543:C:T p.(Glu583Lys) NC_000022.11:26458543:C:T Identity +NM_001122752.2:c.838G>A NP_001116224.1:p.Ala280Thr NC_000003.12:167794780:G:A p.(Ala280Thr) NC_000003.12:167794780:G:A p.(Ala280Thr) NC_000003.12:167794780:G:A Identity +NM_001378492.1:c.670G>A NP_001365421.1:p.Glu224Lys NC_000003.12:190409997:G:A p.(Glu224Lys) NC_000003.12:190409997:G:A p.(Glu224Lys) NC_000003.12:190409997:G:A Identity +NM_024513.4:c.2932C>G NP_078789.2:p.Leu978Val NC_000003.12:45966401:G:C p.(Leu978Val) NC_000003.12:45966401:G:C p.(Leu978Val) NC_000003.12:45966401:G:C Identity +NM_001161748.2:c.334G>A NP_001155220.1:p.Val112Ile NC_000019.10:51380630:C:T p.(Val112Ile) NC_000019.10:51380630:C:T p.(Val112Ile) NC_000019.10:51380630:C:T Identity +NM_025216.3:c.1003G>A NP_079492.2:p.Asp335Asn NC_000002.12:218893019:G:A p.(Asp335Asn) NC_000002.12:218893019:G:A p.(Asp335Asn) NC_000002.12:218893019:G:A Identity +NM_015311.3:c.4733A>G NP_056126.1:p.Gln1578Arg NC_000002.12:219554616:T:C p.(Gln1578Arg) NC_000002.12:219554616:T:C p.(Gln1578Arg) NC_000002.12:219554616:T:C Identity +NM_000092.5:c.2399C>G NP_000083.3:p.Pro800Arg NC_000002.12:227057584:G:C p.(Pro800Arg) NC_000002.12:227057584:G:C p.(Pro800Arg) NC_000002.12:227057584:G:C Identity +NM_001164317.2:c.853G>A NP_001157789.1:p.Gly285Arg NC_000003.12:58094900:G:A p.(Gly285Arg) NC_000003.12:58094900:G:A p.(Gly285Arg) NC_000003.12:58094900:G:A Identity +NM_001362949.2:c.857G>A NP_001349878.1:p.Arg286His NC_000022.11:33432195:C:T p.(Arg286His) NC_000022.11:33432195:C:T p.(Arg286His) NC_000022.11:33432195:C:T Identity +NM_016247.4:c.3355A>G NP_057331.2:p.Ile1119Val NC_000003.12:101231023:T:C p.(Ile1119Val) NC_000003.12:101231023:T:C p.(Ile1119Val) NC_000003.12:101231023:T:C Identity +NM_000551.4:c.11G>T NP_000542.1:p.Arg4Met NC_000003.12:10141857:G:T p.(Arg4Met) NC_000003.12:10141857:G:T p.(Arg4Met) NC_000003.12:10141857:G:T Identity +NM_198506.5:c.1238C>T NP_940908.3:p.Ser413Phe NC_000004.12:109869986:C:T p.(Ser413Phe) NC_000004.12:109869986:C:T p.(Ser413Phe) NC_000004.12:109869986:C:T Identity +NM_001261427.3:c.634C>G NP_001248356.1:p.Pro212Ala NC_000002.12:11773638:C:G p.(Pro212Ala) NC_000002.12:11773638:C:G p.(Pro212Ala) NC_000002.12:11773638:C:G Identity +NM_001164507.2:c.18064A>G NP_001157979.2:p.Ile6022Val NC_000002.12:151567259:T:C p.(Ile6022Val) NC_000002.12:151567259:T:C p.(Ile6022Val) NC_000002.12:151567259:T:C Identity +NM_001164507.2:c.3443C>T NP_001157979.2:p.Ala1148Val NC_000002.12:151677999:G:A p.(Ala1148Val) NC_000002.12:151677999:G:A p.(Ala1148Val) NC_000002.12:151677999:G:A Identity +NM_001287249.2:c.1103A>G NP_001274178.1:p.Lys368Arg NC_000002.12:241767907:A:G p.(Lys368Arg) NC_000002.12:241767907:A:G p.(Lys368Arg) NC_000002.12:241767907:A:G Identity +NM_001029883.3:c.1297C>T NP_001025054.1:p.Pro433Ser NC_000002.12:29072964:G:A p.(Pro433Ser) NC_000002.12:29072964:G:A p.(Pro433Ser) NC_000002.12:29072964:G:A Identity +NM_000379.4:c.617C>T NP_000370.2:p.Pro206Leu NC_000002.12:31387844:G:A p.(Pro206Leu) NC_000002.12:31387844:G:A p.(Pro206Leu) NC_000002.12:31387844:G:A Identity +NM_001357321.2:c.1117T>C NP_001344250.1:p.Cys373Arg NC_000002.12:43872127:T:C p.(Cys373Arg) NC_000002.12:43872127:T:C p.(Cys373Arg) NC_000002.12:43872127:T:C Identity +NM_001317924.2:c.584A>T NP_001304853.1:p.Asp195Val NC_000004.12:39215942:A:T p.(Asp195Val) NC_000004.12:39215942:A:T p.(Asp195Val) NC_000004.12:39215942:A:T Identity +NM_000283.4:c.2526C>T NP_000274.3:p.Gly842= NC_000004.12:670067:C:T p.(Gly842=) NC_000004.12:670067:C:T p.(Gly842=) NC_000004.12:670067:C:T Identity +NM_004525.3:c.11663G>A NP_004516.2:p.Arg3888His NC_000002.12:169166026:C:T p.(Arg3888His) NC_000002.12:169166026:C:T p.(Arg3888His) NC_000002.12:169166026:C:T Identity +NM_001256850.1:c.100460C>T NP_001243779.1:p.Ala33487Val NC_000002.12:178531231:G:A p.(Ala33487Val) NC_000002.12:178531231:G:A p.(Ala33487Val) NC_000002.12:178531231:G:A Identity +NM_001321727.1:c.215T>C NP_001308656.1:p.Leu72Pro NC_000002.12:74530220:T:C p.(Leu72Pro) NC_000002.12:74530220:T:C p.(Leu72Pro) NC_000002.12:74530220:T:C Identity +NM_001256850.1:c.63527G>A NP_001243779.1:p.Arg21176Gln NC_000002.12:178578064:C:T p.(Arg21176Gln) NC_000002.12:178578064:C:T p.(Arg21176Gln) NC_000002.12:178578064:C:T Identity +NM_001256850.1:c.46604G>C NP_001243779.1:p.Gly15535Ala NC_000002.12:178609895:C:G p.(Gly15535Ala) NC_000002.12:178609895:C:G p.(Gly15535Ala) NC_000002.12:178609895:C:G Identity +NM_001256850.1:c.15983C>T NP_001243779.1:p.Pro5328Leu NC_000002.12:178731940:G:A p.(Pro5328Leu) NC_000002.12:178731940:G:A p.(Pro5328Leu) NC_000002.12:178731940:G:A Identity +NM_014014.5:c.6203T>A NP_054733.2:p.Ile2068Asn NC_000002.12:96275320:A:T p.(Ile2068Asn) NC_000002.12:96275320:A:T p.(Ile2068Asn) NC_000002.12:96275320:A:T Identity +NM_001258384.3:c.916G>T NP_001245313.1:p.Gly306Cys NC_000020.11:2659792:C:A p.(Gly306Cys) NC_000020.11:2659792:C:A p.(Gly306Cys) NC_000020.11:2659792:C:A Identity +NM_001174089.2:c.631C>T NP_001167560.1:p.Arg211Trp NC_000020.11:3233611:G:A p.(Arg211Trp) NC_000020.11:3233611:G:A p.(Arg211Trp) NC_000020.11:3233611:G:A Identity +NM_000096.4:c.164A>G NP_000087.2:p.Tyr55Cys NC_000003.12:149212680:T:C p.(Tyr55Cys) NC_000003.12:149212680:T:C p.(Tyr55Cys) NC_000003.12:149212680:T:C Identity +NM_001098484.3:c.2243T>C NP_001091954.1:p.Val748Ala NC_000004.12:71532137:T:C p.(Val748Ala) NC_000004.12:71532137:T:C p.(Val748Ala) NC_000004.12:71532137:T:C Identity +NM_017671.5:c.763C>T NP_060141.3:p.Arg255Cys NC_000020.11:6107617:G:A p.(Arg255Cys) NC_000020.11:6107617:G:A p.(Arg255Cys) NC_000020.11:6107617:G:A Identity +NM_001001890.3:c.1341G>T NP_001001890.1:p.Glu447Asp NC_000021.9:34792155:C:A p.(Glu447Asp) NC_000021.9:34792155:C:A p.(Glu447Asp) NC_000021.9:34792155:C:A Identity +LRG_1133t1:c.239C>G LRG_1133p1:p.Thr80Arg NC_000003.12:39390469:C:G ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found ERR:AlignmentMapper(tx_ac=LRG_1133t1, alt_ac=LRG_1133t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1133t1, alt_ac=LRG_1133t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found +NM_020208.4:c.1747C>T NP_064593.1:p.Leu583Phe NC_000003.12:45759009:G:A p.(Leu583Phe) NC_000003.12:45759009:G:A p.(Leu583Phe) NC_000003.12:45759009:G:A Identity +NM_054027.6:c.1115G>A NP_473368.1:p.Arg372Gln NC_000005.10:14716731:C:T p.(Arg372Gln) NC_000005.10:14716731:C:T p.(Arg372Gln) NC_000005.10:14716731:C:T Identity +NM_001127698.2:c.739C>T NP_001121170.1:p.Arg247Cys NC_000005.10:148094425:C:T p.(Arg247Cys) NC_000005.10:148094425:C:T p.(Arg247Cys) NC_000005.10:148094425:C:T Identity +NM_000440.3:c.343G>A NP_000431.2:p.Val115Ile NC_000005.10:149944330:C:T p.(Val115Ile) NC_000005.10:149944330:C:T p.(Val115Ile) NC_000005.10:149944330:C:T Identity +NM_001204.7:c.2801G>C NP_001195.2:p.Arg934Thr NC_000002.12:202556465:G:C p.(Arg934Thr) NC_000002.12:202556465:G:C p.(Arg934Thr) NC_000002.12:202556465:G:C Identity +NM_015040.4:c.2984A>T NP_055855.2:p.Gln995Leu NC_000002.12:208325794:A:T p.(Gln995Leu) NC_000002.12:208325794:A:T p.(Gln995Leu) NC_000002.12:208325794:A:T Identity +NM_000384.3:c.354C>A NP_000375.3:p.Asn118Lys NC_000002.12:21040966:G:T p.(Asn118Lys) NC_000002.12:21040966:G:T p.(Asn118Lys) NC_000002.12:21040966:G:T Identity +NM_000411.8:c.48T>G NP_000402.3:p.Ile16Met NC_000021.9:36938835:A:C p.(Ile16Met) NC_000021.9:36938835:A:C p.(Ile16Met) NC_000021.9:36938835:A:C Identity +NM_001379500.1:c.217G>A NP_001366429.1:p.Asp73Asn NC_000021.9:45468351:G:A p.(Asp73Asn) NC_000021.9:45468351:G:A p.(Asp73Asn) NC_000021.9:45468351:G:A Identity +NM_001320412.2:c.1337G>A NP_001307341.1:p.Arg446Gln NC_000021.9:46138613:C:T p.(Arg446Gln) NC_000021.9:46138613:C:T p.(Arg446Gln) NC_000021.9:46138613:C:T Identity +NM_004782.4:c.550A>G NP_004773.1:p.Met184Val NC_000022.11:20883499:A:G p.(Met184Val) NC_000022.11:20883499:A:G p.(Met184Val) NC_000022.11:20883499:A:G Identity +NM_001099287.2:c.110T>C NP_001092757.2:p.Val37Ala NC_000005.10:157463165:T:C p.(Val37Ala) NC_000005.10:157463165:T:C p.(Val37Ala) NC_000005.10:157463165:T:C Identity +NM_001034850.3:c.796C>T NP_001030022.1:p.Arg266Cys NC_000005.10:16478861:G:A p.(Arg266Cys) NC_000005.10:16478861:G:A p.(Arg266Cys) NC_000005.10:16478861:G:A Identity +NM_001349896.1:c.373C>G NP_001336825.1:p.Leu125Val NC_000022.11:26472842:G:C p.(Leu125Val) NC_000022.11:26472842:G:C p.(Leu125Val) NC_000022.11:26472842:G:C Identity +NM_001887.4:c.448A>G NP_001878.1:p.Lys150Glu NC_000022.11:26602005:T:C p.(Lys150Glu) NC_000022.11:26602005:T:C p.(Lys150Glu) NC_000022.11:26602005:T:C Identity +NM_000631.5:c.28G>A NP_000622.2:p.Glu10Lys NC_000022.11:36861198:G:A p.(Glu10Lys) NC_000022.11:36861198:G:A p.(Glu10Lys) NC_000022.11:36861198:G:A Identity +NM_001318889.2:c.578A>C NP_001305818.1:p.Gln193Pro NC_000003.12:111579060:A:C p.(Gln193Pro) NC_000003.12:111579060:A:C p.(Gln193Pro) NC_000003.12:111579060:A:C Identity +NM_001280541.2:c.3110C>T NP_001267470.1:p.Ala1037Val NC_000003.12:129514531:C:T p.(Ala1037Val) NC_000003.12:129514531:C:T p.(Ala1037Val) NC_000003.12:129514531:C:T Identity +NM_001173408.2:c.593C>A NP_001166879.1:p.Ala198Glu NC_000002.12:219570639:G:T p.(Ala198Glu) NC_000002.12:219570639:G:T p.(Ala198Glu) NC_000002.12:219570639:G:T Identity +NM_001127366.3:c.1115C>T NP_001120838.1:p.Pro372Leu NC_000002.12:222220194:G:A p.(Pro372Leu) NC_000002.12:222220194:G:A p.(Pro372Leu) NC_000002.12:222220194:G:A Identity +NM_001365116.2:c.4144G>A NP_001352045.1:p.Gly1382Ser NC_000003.12:47000344:G:A p.(Gly1382Ser) NC_000003.12:47000344:G:A p.(Gly1382Ser) NC_000003.12:47000344:G:A Identity +NM_000094.4:c.7204G>A NP_000085.1:p.Val2402Ile NC_000003.12:48570928:C:T p.(Val2402Ile) NC_000003.12:48570928:C:T p.(Val2402Ile) NC_000003.12:48570928:C:T Identity +NM_001384732.1:c.7099A>G NP_001371661.1:p.Lys2367Glu NC_000005.10:37168924:T:C p.(Lys2367Glu) NC_000005.10:37168924:T:C p.(Lys2367Glu) NC_000005.10:37168924:T:C Identity +NM_002203.4:c.2069A>G NP_002194.2:p.Gln690Arg NC_000005.10:53067242:A:G p.(Gln690Arg) NC_000005.10:53067242:A:G p.(Gln690Arg) NC_000005.10:53067242:A:G Identity +NM_001126336.3:c.854C>T NP_001119808.1:p.Ala285Val NC_000005.10:83512207:C:T p.(Ala285Val) NC_000005.10:83512207:C:T p.(Ala285Val) NC_000005.10:83512207:C:T Identity +NM_001164098.2:c.3067A>G NP_001157570.1:p.Thr1023Ala NC_000005.10:83521372:A:G p.(Thr1023Ala) NC_000005.10:83521372:A:G p.(Thr1023Ala) NC_000005.10:83521372:A:G Identity +NM_000439.5:c.1414A>G NP_000430.3:p.Asn472Asp NC_000005.10:96399968:T:C p.(Asn472Asp) NC_000005.10:96399968:T:C p.(Asn472Asp) NC_000005.10:96399968:T:C Identity +NM_001184.4:c.1006C>T NP_001175.2:p.Arg336Trp NC_000003.12:142562395:G:A p.(Arg336Trp) NC_000003.12:142562395:G:A p.(Arg336Trp) NC_000003.12:142562395:G:A Identity +NM_031955.6:c.104C>T NP_114161.3:p.Ala35Val NC_000003.12:173117627:G:A p.(Ala35Val) NC_000003.12:173117627:G:A p.(Ala35Val) NC_000003.12:173117627:G:A Identity +NM_000541.5:c.820C>T NP_000532.2:p.Pro274Ser NC_000002.12:233334974:C:T p.(Pro274Ser) NC_000002.12:233334974:C:T p.(Pro274Ser) NC_000002.12:233334974:C:T Identity +NM_004369.4:c.2027T>G NP_004360.2:p.Ile676Ser NC_000002.12:237379105:A:C p.(Ile676Ser) NC_000002.12:237379105:A:C p.(Ile676Ser) NC_000002.12:237379105:A:C Identity +NM_000030.3:c.601G>A NP_000021.1:p.Asp201Asn NC_000002.12:240873982:G:A p.(Asp201Asn) NC_000002.12:240873982:G:A p.(Asp201Asn) NC_000002.12:240873982:G:A Identity +NM_000182.5:c.79C>T NP_000173.2:p.Arg27Cys NC_000002.12:26239131:G:A p.(Arg27Cys) NC_000002.12:26239131:G:A p.(Arg27Cys) NC_000002.12:26239131:G:A Identity +NM_001029883.3:c.3590G>A NP_001025054.1:p.Arg1197His NC_000002.12:29070671:C:T p.(Arg1197His) NC_000002.12:29070671:C:T p.(Arg1197His) NC_000002.12:29070671:C:T Identity +NM_001029883.3:c.1262A>G NP_001025054.1:p.Lys421Arg NC_000002.12:29072999:T:C p.(Lys421Arg) NC_000002.12:29072999:T:C p.(Lys421Arg) NC_000002.12:29072999:T:C Identity +NM_001353765.2:c.1229T>C NP_001340694.1:p.Met410Thr NC_000002.12:29193653:A:G p.(Met410Thr) NC_000002.12:29193653:A:G p.(Met410Thr) NC_000002.12:29193653:A:G Identity +NM_000248.4:c.938G>A NP_000239.1:p.Arg313Gln NC_000003.12:69964925:G:A p.(Arg313Gln) NC_000003.12:69964925:G:A p.(Arg313Gln) NC_000003.12:69964925:G:A Identity +NM_000248.4:c.959T>C NP_000239.1:p.Val320Ala NC_000003.12:69964946:T:C p.(Val320Ala) NC_000003.12:69964946:T:C p.(Val320Ala) NC_000003.12:69964946:T:C Identity +NM_003619.4:c.1277G>A NP_003610.2:p.Arg426Gln NC_000004.12:118316196:C:T p.(Arg426Gln) NC_000004.12:118316196:C:T p.(Arg426Gln) NC_000004.12:118316196:C:T Identity +NM_001354664.2:c.172T>C NP_001341593.1:p.Phe58Leu NC_000003.12:193617272:T:C p.(Phe58Leu) NC_000003.12:193617272:T:C p.(Phe58Leu) NC_000003.12:193617272:T:C Identity +NM_001365116.2:c.419A>G NP_001352045.1:p.Asp140Gly NC_000003.12:46989347:A:G p.(Asp140Gly) NC_000003.12:46989347:A:G p.(Asp140Gly) NC_000003.12:46989347:A:G Identity +NM_001365116.2:c.1291G>A NP_001352045.1:p.Ala431Thr NC_000003.12:46995127:G:A p.(Ala431Thr) NC_000003.12:46995127:G:A p.(Ala431Thr) NC_000003.12:46995127:G:A Identity +NM_133259.4:c.1300G>A NP_573566.2:p.Gly434Ser NC_000002.12:43973675:C:T p.(Gly434Ser) NC_000002.12:43973675:C:T p.(Gly434Ser) NC_000002.12:43973675:C:T Identity +NM_001171506.2:c.236T>C NP_001164977.1:p.Met79Thr NC_000002.12:46907882:A:G p.(Met79Thr) NC_000002.12:46907882:A:G p.(Met79Thr) NC_000002.12:46907882:A:G Identity +NM_031296.3:c.417T>G NP_112586.1:p.Asn139Lys NC_000004.12:139472852:T:G p.(Asn139Lys) NC_000004.12:139472852:T:G p.(Asn139Lys) NC_000004.12:139472852:T:G Identity +NM_001080522.2:c.4098A>C NP_001073991.2:p.Glu1366Asp NC_000004.12:15587847:A:C p.(Glu1366Asp) NC_000004.12:15587847:A:C p.(Glu1366Asp) NC_000004.12:15587847:A:C Identity +NM_001145847.2:c.704G>A NP_001139319.1:p.Arg235Gln NC_000004.12:16023378:C:T p.(Arg235Gln) NC_000004.12:16023378:C:T p.(Arg235Gln) NC_000004.12:16023378:C:T Identity +NM_001365116.2:c.4567C>G NP_001352045.1:p.Leu1523Val NC_000003.12:47001712:C:G p.(Leu1523Val) NC_000003.12:47001712:C:G p.(Leu1523Val) NC_000003.12:47001712:C:G Identity +NM_000094.4:c.7286C>T NP_000085.1:p.Pro2429Leu NC_000003.12:48570696:G:A p.(Pro2429Leu) NC_000003.12:48570696:G:A p.(Pro2429Leu) NC_000003.12:48570696:G:A Identity +NM_001317924.2:c.3187C>T NP_001304853.1:p.Arg1063Cys NC_000004.12:39274908:C:T p.(Arg1063Cys) NC_000004.12:39274908:C:T p.(Arg1063Cys) NC_000004.12:39274908:C:T Identity +NM_001098484.3:c.1132A>C NP_001091954.1:p.Ile378Leu NC_000004.12:71450466:A:C p.(Ile378Leu) NC_000004.12:71450466:A:C p.(Ile378Leu) NC_000004.12:71450466:A:C Identity +NM_001135040.3:c.3415A>G NP_001128512.1:p.Thr1139Ala NC_000002.12:74363032:T:C p.(Thr1139Ala) NC_000002.12:74363032:T:C p.(Thr1139Ala) NC_000002.12:74363032:T:C Identity +NM_014014.5:c.5983G>A NP_054733.2:p.Ala1995Thr NC_000002.12:96277189:C:T p.(Ala1995Thr) NC_000002.12:96277189:C:T p.(Ala1995Thr) NC_000002.12:96277189:C:T Identity +NM_014014.5:c.2665A>G NP_054733.2:p.Ile889Val NC_000002.12:96290402:T:C p.(Ile889Val) NC_000002.12:96290402:T:C p.(Ile889Val) NC_000002.12:96290402:T:C Identity +NM_001254734.2:c.422C>A NP_001241663.1:p.Ala141Glu NC_000020.11:2395433:C:A p.(Ala141Glu) NC_000020.11:2395433:C:A p.(Ala141Glu) NC_000020.11:2395433:C:A Identity +NM_025074.7:c.6691G>A NP_079350.5:p.Gly2231Arg NC_000004.12:78452281:G:A p.(Gly2231Arg) NC_000004.12:78452281:G:A p.(Gly2231Arg) NC_000004.12:78452281:G:A Identity +NM_000440.3:c.710G>A NP_000431.2:p.Arg237His NC_000005.10:149933936:C:T p.(Arg237His) NC_000005.10:149933936:C:T p.(Arg237His) NC_000005.10:149933936:C:T Identity +NM_001288705.3:c.2622A>C NP_001275634.1:p.Gln874His NC_000005.10:150055268:T:G p.(Gln874His) NC_000005.10:150055268:T:G p.(Gln874His) NC_000005.10:150055268:T:G Identity +NM_207352.4:c.311A>G NP_997235.3:p.Asn104Ser NC_000004.12:186194595:A:G p.(Asn104Ser) NC_000004.12:186194595:A:G p.(Asn104Ser) NC_000004.12:186194595:A:G Identity +NM_001207055.2:c.1033G>A NP_001193984.1:p.Gly345Ser NC_000020.11:32795500:G:A p.(Gly345Ser) NC_000020.11:32795500:G:A p.(Gly345Ser) NC_000020.11:32795500:G:A Identity +NM_006420.3:c.4061T>C NP_006411.2:p.Val1354Ala NC_000020.11:49013841:T:C p.(Val1354Ala) NC_000020.11:49013841:T:C p.(Val1354Ala) NC_000020.11:49013841:T:C Identity +NM_002591.4:c.179T>C NP_002582.3:p.Met60Thr NC_000020.11:57561589:T:C p.(Met60Thr) NC_000020.11:57561589:T:C p.(Met60Thr) NC_000020.11:57561589:T:C Identity +NM_001017987.3:c.527A>G NP_001017987.1:p.Gln176Arg NC_000005.10:179837730:T:C p.(Gln176Arg) NC_000005.10:179837730:T:C p.(Gln176Arg) NC_000005.10:179837730:T:C Identity +NM_002185.5:c.419G>A NP_002176.2:p.Arg140Gln NC_000005.10:35871094:G:A p.(Arg140Gln) NC_000005.10:35871094:G:A p.(Arg140Gln) NC_000005.10:35871094:G:A Identity +NM_001127671.2:c.2480T>C NP_001121143.1:p.Val827Ala NC_000005.10:38485835:A:G p.(Val827Ala) NC_000005.10:38485835:A:G p.(Val827Ala) NC_000005.10:38485835:A:G Identity +NM_015192.4:c.724G>A NP_056007.1:p.Val242Ile NC_000020.11:8658565:G:A p.(Val242Ile) NC_000020.11:8658565:G:A p.(Val242Ile) NC_000020.11:8658565:G:A Identity +NM_000211.5:c.28G>A NP_000202.3:p.Ala10Thr NC_000021.9:44910754:C:T p.(Ala10Thr) NC_000021.9:44910754:C:T p.(Ala10Thr) NC_000021.9:44910754:C:T Identity +NM_001306090.2:c.2102C>T NP_001293019.1:p.Ala701Val NC_000004.12:5798589:C:T p.(Ala701Val) NC_000004.12:5798589:C:T p.(Ala701Val) NC_000004.12:5798589:C:T Identity +NM_000163.5:c.1025G>T NP_000154.1:p.Trp342Leu NC_000005.10:42718531:G:T p.(Trp342Leu) NC_000005.10:42718531:G:T p.(Trp342Leu) NC_000005.10:42718531:G:T Identity +NM_001038603.3:c.728A>G NP_001033692.2:p.Tyr243Cys NC_000005.10:69420112:A:G p.(Tyr243Cys) NC_000005.10:69420112:A:G p.(Tyr243Cys) NC_000005.10:69420112:A:G Identity +NM_001038603.3:c.760C>G NP_001033692.2:p.Pro254Ala NC_000005.10:69420144:C:G p.(Pro254Ala) NC_000005.10:69420144:C:G p.(Pro254Ala) NC_000005.10:69420144:C:G Identity +NM_001164098.2:c.2159T>C NP_001157570.1:p.Val720Ala NC_000005.10:83520464:T:C p.(Val720Ala) NC_000005.10:83520464:T:C p.(Val720Ala) NC_000005.10:83520464:T:C Identity +NM_001315529.2:c.4421T>G NP_001302458.1:p.Val1474Gly NC_000021.9:46399779:T:G p.(Val1474Gly) NC_000021.9:46399779:T:G p.(Val1474Gly) NC_000021.9:46399779:T:G Identity +NM_000355.4:c.509G>A NP_000346.2:p.Arg170Gln NC_000022.11:30614429:G:A p.(Arg170Gln) NC_000022.11:30614429:G:A p.(Arg170Gln) NC_000022.11:30614429:G:A Identity +NM_000631.5:c.478G>A NP_000622.2:p.Val160Met NC_000022.11:36871658:G:A p.(Val160Met) NC_000022.11:36871658:G:A p.(Val160Met) NC_000022.11:36871658:G:A Identity +NM_025074.7:c.9607G>A NP_079350.5:p.Asp3203Asn NC_000004.12:78508832:G:A p.(Asp3203Asn) NC_000004.12:78508832:G:A p.(Asp3203Asn) NC_000004.12:78508832:G:A Identity +NM_001145794.2:c.98C>T NP_001139266.1:p.Ala33Val NC_000004.12:80072462:G:A p.(Ala33Val) NC_000004.12:80072462:G:A p.(Ala33Val) NC_000004.12:80072462:G:A Identity +NM_007214.5:c.1666G>A NP_009145.1:p.Val556Ile NC_000006.12:107893489:C:T p.(Val556Ile) NC_000006.12:107893489:C:T p.(Val556Ile) NC_000006.12:107893489:C:T Identity +NM_014845.6:c.350C>T NP_055660.1:p.Ala117Val NC_000006.12:109727168:C:T p.(Ala117Val) NC_000006.12:109727168:C:T p.(Ala117Val) NC_000006.12:109727168:C:T Identity +NM_001004426.3:c.439G>A NP_001004426.1:p.Ala147Thr NC_000022.11:38143274:C:T p.(Ala147Thr) NC_000022.11:38143274:C:T p.(Ala147Thr) NC_000022.11:38143274:C:T Identity +NM_001321309.2:c.4913C>T NP_001308238.1:p.Thr1638Ile NC_000003.12:123618697:G:A p.(Thr1638Ile) NC_000003.12:123618697:G:A p.(Thr1638Ile) NC_000003.12:123618697:G:A Identity +NM_000373.4:c.1336A>G NP_000364.1:p.Ile446Val NC_000003.12:124743976:A:G p.(Ile446Val) NC_000003.12:124743976:A:G p.(Ile446Val) NC_000003.12:124743976:A:G Identity +NM_001308122.2:c.1052A>C NP_001295051.1:p.Gln351Pro NC_000005.10:132388948:A:C p.(Gln351Pro) NC_000005.10:132388948:A:C p.(Gln351Pro) NC_000005.10:132388948:A:C Identity +NM_006790.3:c.335T>A NP_006781.1:p.Ile112Asn NC_000005.10:137870985:T:A p.(Ile112Asn) NC_000005.10:137870985:T:A p.(Ile112Asn) NC_000005.10:137870985:T:A Identity +NM_001037633.2:c.1321G>A NP_001032722.1:p.Glu441Lys NC_000005.10:138947181:C:T p.(Glu441Lys) NC_000005.10:138947181:C:T p.(Glu441Lys) NC_000005.10:138947181:C:T Identity +NM_001079812.3:c.173C>T NP_001073280.1:p.Ala58Val NC_000005.10:141587141:G:A p.(Ala58Val) NC_000005.10:141587141:G:A p.(Ala58Val) NC_000005.10:141587141:G:A Identity +NM_001288705.3:c.316C>T NP_001275634.1:p.Arg106Trp NC_000005.10:150080327:G:A p.(Arg106Trp) NC_000005.10:150080327:G:A p.(Arg106Trp) NC_000005.10:150080327:G:A Identity +NM_001166695.3:c.1154G>A NP_001160167.1:p.Arg385His NC_000005.10:36680453:G:A p.(Arg385His) NC_000005.10:36680453:G:A p.(Arg385His) NC_000005.10:36680453:G:A Identity +NM_000532.5:c.707A>G NP_000523.2:p.Asn236Ser NC_000003.12:136293807:A:G p.(Asn236Ser) NC_000003.12:136293807:A:G p.(Asn236Ser) NC_000003.12:136293807:A:G Identity +NM_024334.3:c.275T>C NP_077310.1:p.Ile92Thr NC_000003.12:14130933:T:C p.(Ile92Thr) NC_000003.12:14130933:T:C p.(Ile92Thr) NC_000003.12:14130933:T:C Identity +NM_000935.3:c.382A>G NP_000926.2:p.Lys128Glu NC_000003.12:146110404:T:C p.(Lys128Glu) NC_000003.12:146110404:T:C p.(Lys128Glu) NC_000003.12:146110404:T:C Identity +NM_001242385.2:c.1558C>T NP_001229314.1:p.Pro520Ser NC_000006.12:10775366:G:A p.(Pro520Ser) NC_000006.12:10775366:G:A p.(Pro520Ser) NC_000006.12:10775366:G:A Identity +NM_000094.4:c.3343G>C NP_000085.1:p.Gly1115Arg NC_000003.12:48586622:C:G p.(Gly1115Arg) NC_000003.12:48586622:C:G p.(Gly1115Arg) NC_000003.12:48586622:C:G Identity +NM_000094.4:c.761C>T NP_000085.1:p.Ala254Val NC_000003.12:48592859:G:A p.(Ala254Val) NC_000003.12:48592859:G:A p.(Ala254Val) NC_000003.12:48592859:G:A Identity +NM_000094.4:c.89C>T NP_000085.1:p.Thr30Ile NC_000003.12:48594544:G:A p.(Thr30Ile) NC_000003.12:48594544:G:A p.(Thr30Ile) NC_000003.12:48594544:G:A Identity +NM_001164317.2:c.7580C>T NP_001157789.1:p.Ser2527Leu NC_000003.12:58169658:C:T p.(Ser2527Leu) NC_000003.12:58169658:C:T p.(Ser2527Leu) NC_000003.12:58169658:C:T Identity +LRG_1077t1:c.814A>C LRG_1077p1:p.Asn272His NC_000003.12:98588851:T:G ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found +NM_000204.5:c.1661A>T NP_000195.3:p.Glu554Val NC_000004.12:109740983:T:A p.(Glu554Val) NC_000004.12:109740983:T:A p.(Glu554Val) NC_000004.12:109740983:T:A Identity +NM_198506.5:c.1456G>A NP_940908.3:p.Ala486Thr NC_000004.12:109870204:G:A p.(Ala486Thr) NC_000004.12:109870204:G:A p.(Ala486Thr) NC_000004.12:109870204:G:A Identity +NM_001148.6:c.7546A>C NP_001139.3:p.Ser2516Arg NC_000004.12:113356163:A:C p.(Ser2516Arg) NC_000004.12:113356163:A:C p.(Ser2516Arg) NC_000004.12:113356163:A:C Identity +NM_018190.4:c.1603C>A NP_060660.2:p.Pro535Thr NC_000004.12:121833303:G:T p.(Pro535Thr) NC_000004.12:121833303:G:T p.(Pro535Thr) NC_000004.12:121833303:G:T Identity +NM_207352.4:c.302C>T NP_997235.3:p.Ala101Val NC_000004.12:186194586:C:T p.(Ala101Val) NC_000004.12:186194586:C:T p.(Ala101Val) NC_000004.12:186194586:C:T Identity +NM_001079911.3:c.1400A>C NP_001073380.1:p.Asn467Thr NC_000004.12:87663225:A:C p.(Asn467Thr) NC_000004.12:87663225:A:C p.(Asn467Thr) NC_000004.12:87663225:A:C Identity +NM_001369.3:c.7091G>C NP_001360.1:p.Gly2364Ala NC_000005.10:13814743:C:G p.(Gly2364Ala) NC_000005.10:13814743:C:G p.(Gly2364Ala) NC_000005.10:13814743:C:G Identity +NM_001369.3:c.5425G>A NP_001360.1:p.Ala1809Thr NC_000005.10:13841750:C:T p.(Ala1809Thr) NC_000005.10:13841750:C:T p.(Ala1809Thr) NC_000005.10:13841750:C:T Identity +NM_001185012.2:c.191A>G NP_001171941.1:p.Lys64Arg NC_000005.10:140647272:T:C p.(Lys64Arg) NC_000005.10:140647272:T:C p.(Lys64Arg) NC_000005.10:140647272:T:C Identity +NM_001384732.1:c.7298T>C NP_001371661.1:p.Leu2433Pro NC_000005.10:37167148:A:G p.(Leu2433Pro) NC_000005.10:37167148:A:G p.(Leu2433Pro) NC_000005.10:37167148:A:G Identity +NM_000426.4:c.194T>C NP_000417.3:p.Met65Thr NC_000006.12:129049998:T:C p.(Met65Thr) NC_000006.12:129049998:T:C p.(Met65Thr) NC_000006.12:129049998:T:C Identity +NM_033071.5:c.15812C>T NP_149062.2:p.Thr5271Met NC_000006.12:152321778:G:A p.(Thr5271Met) NC_000006.12:152321778:G:A p.(Thr5271Met) NC_000006.12:152321778:G:A Identity +NM_001145717.1:c.955G>A NP_001139189.2:p.Asp319Asn NC_000006.12:36302039:G:A p.(Asp319Asn) NC_000006.12:36302039:G:A p.(Asp319Asn) NC_000006.12:36302039:G:A Identity +NM_001723.7:c.7495C>T NP_001714.1:p.Arg2499Trp NC_000006.12:56615971:G:A p.(Arg2499Trp) NC_000006.12:56615971:G:A p.(Arg2499Trp) NC_000006.12:56615971:G:A Identity +NM_001723.7:c.5059G>A NP_001714.1:p.Glu1687Lys NC_000006.12:56618974:C:T p.(Glu1687Lys) NC_000006.12:56618974:C:T p.(Glu1687Lys) NC_000006.12:56618974:C:T Identity +NM_001142800.2:c.6714del NP_001136272.1:p.Ile2239fs NC_000006.12:64066348:A: p.(Ile2239SerfsTer17) NC_000006.12:64066348:A: p.(Ile2239SerfsTer17) NC_000006.12:64066348:A: Analogous +NM_000083.3:c.1396A>C NP_000074.3:p.Met466Leu NC_000007.14:143332867:A:C p.(Met466Leu) NC_000007.14:143332867:A:C p.(Met466Leu) NC_000007.14:143332867:A:C Identity +NM_006735.4:c.394T>A NP_006726.1:p.Ser132Thr NC_000007.14:27101462:A:T p.(Ser132Thr) NC_000007.14:27101462:A:T p.(Ser132Thr) NC_000007.14:27101462:A:T Identity +NM_001365308.1:c.857G>T NP_001352237.1:p.Cys286Phe NC_000007.14:34055232:G:T p.(Cys286Phe) NC_000007.14:34055232:G:T p.(Cys286Phe) NC_000007.14:34055232:G:T Identity +NM_000089.4:c.3014G>A NP_000080.2:p.Arg1005His NC_000007.14:94426438:G:A p.(Arg1005His) NC_000007.14:94426438:G:A p.(Arg1005His) NC_000007.14:94426438:G:A Identity +NM_001251987.2:c.85G>A NP_001238916.1:p.Gly29Arg NC_000006.12:123571069:C:T p.(Gly29Arg) NC_000006.12:123571069:C:T p.(Gly29Arg) NC_000006.12:123571069:C:T Identity +NM_000426.4:c.3304C>T NP_000417.3:p.Arg1102Cys NC_000006.12:129312989:C:T p.(Arg1102Cys) NC_000006.12:129312989:C:T p.(Arg1102Cys) NC_000006.12:129312989:C:T Identity +NM_000367.5:c.335T>A NP_000358.1:p.Ile112Asn NC_000006.12:18143626:A:T p.(Ile112Asn) NC_000006.12:18143626:A:T p.(Ile112Asn) NC_000006.12:18143626:A:T Identity +NM_000434.4:c.474T>G NP_000425.1:p.Cys158Trp NC_000006.12:31861328:A:C p.(Cys158Trp) NC_000006.12:31861328:A:C p.(Cys158Trp) NC_000006.12:31861328:A:C Identity +NM_033071.5:c.5450C>T NP_149062.2:p.Ala1817Val NC_000006.12:152417007:G:A p.(Ala1817Val) NC_000006.12:152417007:G:A p.(Ala1817Val) NC_000006.12:152417007:G:A Identity +NM_001710.6:c.1524C>A NP_001701.2:p.His508Gln NC_000006.12:31950302:C:A p.(His508Gln) NC_000006.12:31950302:C:A p.(His508Gln) NC_000006.12:31950302:C:A Identity +NM_000426.4:c.2527C>T NP_000417.3:p.Arg843Cys NC_000006.12:129280136:C:T p.(Arg843Cys) NC_000006.12:129280136:C:T p.(Arg843Cys) NC_000006.12:129280136:C:T Identity +NM_001127505.3:c.602A>T NP_001120977.1:p.Tyr201Phe NC_000008.11:18062306:T:A p.(Tyr201Phe) NC_000008.11:18062306:T:A p.(Tyr201Phe) NC_000008.11:18062306:T:A Identity +NM_000037.4:c.4607G>A NP_000028.3:p.Arg1536His NC_000008.11:41672842:C:T p.(Arg1536His) NC_000008.11:41672842:C:T p.(Arg1536His) NC_000008.11:41672842:C:T Identity +NM_001316690.1:c.2341G>A NP_001303619.1:p.Ala781Thr NC_000008.11:60865426:G:A p.(Ala781Thr) NC_000008.11:60865426:G:A p.(Ala781Thr) NC_000008.11:60865426:G:A Identity +NM_001316690.1:c.2813_2815del NP_001303619.1:p.Gly938del NC_000008.11:60865894:GGGGGGG:GGGG p.(Gly938del) NC_000008.11:60865894:GGGGGGG:GGGG p.(Gly938del) NC_000008.11:60865898:GGG: Identity +NM_001001557.4:c.1304C>T NP_001001557.1:p.Ala435Val NC_000008.11:96144626:G:A p.(Ala435Val) NC_000008.11:96144626:G:A p.(Ala435Val) NC_000008.11:96144626:G:A Identity +NM_001318360.2:c.581T>C NP_001305289.1:p.Leu194Pro NC_000009.12:108916238:A:G p.(Leu194Pro) NC_000009.12:108916238:A:G p.(Leu194Pro) NC_000009.12:108916238:A:G Identity +NM_001011649.3:c.3002C>T NP_001011649.1:p.Thr1001Met NC_000009.12:120447917:G:A p.(Thr1001Met) NC_000009.12:120447917:G:A p.(Thr1001Met) NC_000009.12:120447917:G:A Identity +NM_000550.3:c.70G>A NP_000541.1:p.Ala24Thr NC_000009.12:12694065:G:A p.(Ala24Thr) NC_000009.12:12694065:G:A p.(Ala24Thr) NC_000009.12:12694065:G:A Identity +NM_001351527.2:c.1416A>T NP_001338456.1:p.Lys472Asn NC_000009.12:132330181:T:A p.(Lys472Asn) NC_000009.12:132330181:T:A p.(Lys472Asn) NC_000009.12:132330181:T:A Identity +NM_000459.5:c.1456G>A NP_000450.3:p.Val486Ile NC_000009.12:27190656:G:A p.(Val486Ile) NC_000009.12:27190656:G:A p.(Val486Ile) NC_000009.12:27190656:G:A Identity +NM_001168370.2:c.161G>T NP_001161842.2:p.Gly54Val NC_000006.12:43052627:C:A p.(Gly54Val) NC_000006.12:43052627:C:A p.(Gly54Val) NC_000006.12:43052627:C:A Identity +NM_001723.7:c.4289C>T NP_001714.1:p.Ala1430Val NC_000006.12:56619744:G:A p.(Ala1430Val) NC_000006.12:56619744:G:A p.(Ala1430Val) NC_000006.12:56619744:G:A Identity +NM_001144769.5:c.2620C>T NP_001138241.1:p.Arg874Trp NC_000006.12:56639589:G:A p.(Arg874Trp) NC_000006.12:56639589:G:A p.(Arg874Trp) NC_000006.12:56639589:G:A Identity +NM_001008844.3:c.4241G>A NP_001008844.1:p.Arg1414Gln NC_000006.12:7583299:G:A p.(Arg1414Gln) NC_000006.12:7583299:G:A p.(Arg1414Gln) NC_000006.12:7583299:G:A Identity +NM_001206855.3:c.104C>A NP_001193784.1:p.Ala35Asp NC_000007.14:100633337:G:T p.(Ala35Asp) NC_000007.14:100633337:G:T p.(Ala35Asp) NC_000007.14:100633337:G:T Identity +NM_000111.3:c.921T>G NP_000102.1:p.Cys307Trp NC_000007.14:107786876:A:C p.(Cys307Trp) NC_000007.14:107786876:A:C p.(Cys307Trp) NC_000007.14:107786876:A:C Identity +NM_000083.3:c.451G>A NP_000074.3:p.Ala151Thr NC_000007.14:143321381:G:A p.(Ala151Thr) NC_000007.14:143321381:G:A p.(Ala151Thr) NC_000007.14:143321381:G:A Identity +NM_000083.3:c.1842G>C NP_000074.3:p.Lys614Asn NC_000007.14:143342416:G:C p.(Lys614Asn) NC_000007.14:143342416:G:C p.(Lys614Asn) NC_000007.14:143342416:G:C Identity +NM_001080413.3:c.454G>A NP_001073882.3:p.Gly152Arg NC_000007.14:144401435:C:T p.(Gly152Arg) NC_000007.14:144401435:C:T p.(Gly152Arg) NC_000007.14:144401435:C:T Identity +NM_001363676.1:c.188A>G NP_001350605.1:p.Asp63Gly NC_000007.14:157366513:A:G p.(Asp63Gly) NC_000007.14:157366513:A:G p.(Asp63Gly) NC_000007.14:157366513:A:G Identity +NM_001277115.2:c.5327A>T NP_001264044.1:p.Gln1776Leu NC_000007.14:21659029:A:T p.(Gln1776Leu) NC_000007.14:21659029:A:T p.(Gln1776Leu) NC_000007.14:21659029:A:T Identity +NM_000168.6:c.2960A>G NP_000159.3:p.Tyr987Cys NC_000007.14:41966112:T:C p.(Tyr987Cys) NC_000007.14:41966112:T:C p.(Tyr987Cys) NC_000007.14:41966112:T:C Identity +NM_000790.4:c.535A>C NP_000781.2:p.Ile179Leu NC_000007.14:50529242:T:G p.(Ile179Leu) NC_000007.14:50529242:T:G p.(Ile179Leu) NC_000007.14:50529242:T:G Identity +NM_001379277.1:c.2201A>G NP_001366206.1:p.Tyr734Cys NC_000007.14:92079688:A:G p.(Tyr734Cys) NC_000007.14:92079688:A:G p.(Tyr734Cys) NC_000007.14:92079688:A:G Identity +NM_000089.4:c.1564C>T NP_000080.2:p.Pro522Ser NC_000007.14:94413695:C:T p.(Pro522Ser) NC_000007.14:94413695:C:T p.(Pro522Ser) NC_000007.14:94413695:C:T Identity +NM_017890.5:c.10086C>G NP_060360.3:p.Ile3362Met NC_000008.11:99848843:C:G p.(Ile3362Met) NC_000008.11:99848843:C:G p.(Ile3362Met) NC_000008.11:99848843:C:G Identity +NM_178857.6:c.6511G>A NP_849188.4:p.Glu2171Lys NC_000008.11:10607586:C:T p.(Glu2171Lys) NC_000008.11:10607586:C:T p.(Glu2171Lys) NC_000008.11:10607586:C:T Identity +NM_000063.6:c.313G>A NP_000054.2:p.Gly105Arg NC_000006.12:31928787:G:A p.(Gly105Arg) NC_000006.12:31928787:G:A p.(Gly105Arg) NC_000006.12:31928787:G:A Identity +NM_006929.5:c.3212C>T NP_008860.4:p.Ala1071Val NC_000006.12:31968901:C:T p.(Ala1071Val) NC_000006.12:31968901:C:T p.(Ala1071Val) NC_000006.12:31968901:C:T Identity +NM_001358529.2:c.1307G>T NP_001345458.1:p.Arg436Leu NC_000006.12:39906912:C:A p.(Arg436Leu) NC_000006.12:39906912:C:A p.(Arg436Leu) NC_000006.12:39906912:C:A Identity +NM_001144769.5:c.2405G>A NP_001138241.1:p.Arg802His NC_000006.12:56640043:C:T p.(Arg802His) NC_000006.12:56640043:C:T p.(Arg802His) NC_000006.12:56640043:C:T Identity +NM_001144769.5:c.2251C>G NP_001138241.1:p.Pro751Ala NC_000006.12:56640282:G:C p.(Pro751Ala) NC_000006.12:56640282:G:C p.(Pro751Ala) NC_000006.12:56640282:G:C Identity +NM_001142800.2:c.2822G>T NP_001136272.1:p.Gly941Val NC_000006.12:64902136:C:A p.(Gly941Val) NC_000006.12:64902136:C:A p.(Gly941Val) NC_000006.12:64902136:C:A Identity +NM_001281428.2:c.1303C>G NP_001268357.1:p.His435Asp NC_000009.12:34506853:C:G p.(His435Asp) NC_000009.12:34506853:C:G p.(His435Asp) NC_000009.12:34506853:C:G Identity +NM_001190458.2:c.2234C>T NP_001177387.1:p.Thr745Ile NC_000009.12:377208:C:T p.(Thr745Ile) NC_000009.12:377208:C:T p.(Thr745Ile) NC_000009.12:377208:C:T Identity +NM_004170.6:c.893T>C NP_004161.4:p.Ile298Thr NC_000009.12:4576017:T:C p.(Ile298Thr) NC_000009.12:4576017:T:C p.(Ile298Thr) NC_000009.12:4576017:T:C Identity +LRG_199t1:c.1249G>C LRG_199p1:p.Glu417Gln NC_000023.11:32644213:C:G ERR:Data provider error: ValueError: Transcript LRG_199t1 not found ERR:Data provider error: ValueError: Transcript LRG_199t1 not found ERR:AlignmentMapper(tx_ac=LRG_199t1, alt_ac=LRG_199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_199t1, alt_ac=LRG_199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_199t1 not found +NM_002546.4:c.700G>A NP_002537.3:p.Ala234Thr NC_000008.11:118926610:C:T p.(Ala234Thr) NC_000008.11:118926610:C:T p.(Ala234Thr) NC_000008.11:118926610:C:T Identity +NM_003235.5:c.3187C>A NP_003226.4:p.Leu1063Met NC_000008.11:132898215:C:A p.(Leu1063Met) NC_000008.11:132898215:C:A p.(Leu1063Met) NC_000008.11:132898215:C:A Identity +NM_003235.5:c.4267C>T NP_003226.4:p.Arg1423Cys NC_000008.11:132913153:C:T p.(Arg1423Cys) NC_000008.11:132913153:C:T p.(Arg1423Cys) NC_000008.11:132913153:C:T Identity +NM_003235.5:c.7112G>A NP_003226.4:p.Arg2371Gln NC_000008.11:133029895:G:A p.(Arg2371Gln) NC_000008.11:133029895:G:A p.(Arg2371Gln) NC_000008.11:133029895:G:A Identity +NM_001318785.2:c.229T>A NP_001305714.1:p.Tyr77Asn NC_000006.12:87530800:A:T p.(Tyr77Asn) NC_000006.12:87530800:A:T p.(Tyr77Asn) NC_000006.12:87530800:A:T Identity +NM_000245.4:c.1174C>A NP_000236.2:p.Pro392Thr NC_000007.14:116700257:C:A p.(Pro392Thr) NC_000007.14:116700257:C:A p.(Pro392Thr) NC_000007.14:116700257:C:A Identity +NM_000883.4:c.737G>A NP_000874.2:p.Arg246Gln NC_000007.14:128400381:C:T p.(Arg246Gln) NC_000007.14:128400381:C:T p.(Arg246Gln) NC_000007.14:128400381:C:T Identity +NM_001040633.2:c.263A>G NP_001035723.1:p.Lys88Arg NC_000007.14:151781222:T:C p.(Lys88Arg) NC_000007.14:151781222:T:C p.(Lys88Arg) NC_000007.14:151781222:T:C Identity +NM_001033604.2:c.2488A>G NP_001028776.1:p.Thr830Ala NC_000007.14:33604935:A:G p.(Thr830Ala) NC_000007.14:33604935:A:G p.(Thr830Ala) NC_000007.14:33604935:A:G Identity +NM_000168.6:c.3598C>G NP_000159.3:p.His1200Asp NC_000007.14:41965474:G:C p.(His1200Asp) NC_000007.14:41965474:G:C p.(His1200Asp) NC_000007.14:41965474:G:C Identity +NM_000296.4:c.3543T>A NP_000287.4:p.Tyr1181Ter NC_000016.10:2111623:A:T p.(Tyr1181Ter) NC_000016.10:2111623:A:T p.(Tyr1181Ter) NC_000016.10:2111623:A:T Identity +NM_017890.5:c.11413G>T NP_060360.3:p.Val3805Leu NC_000008.11:99868410:G:T p.(Val3805Leu) NC_000008.11:99868410:G:T p.(Val3805Leu) NC_000008.11:99868410:G:T Identity +NM_178857.6:c.2899G>A NP_849188.4:p.Glu967Lys NC_000008.11:10611198:C:T p.(Glu967Lys) NC_000008.11:10611198:C:T p.(Glu967Lys) NC_000008.11:10611198:C:T Identity +NM_178857.6:c.776C>A NP_849188.4:p.Pro259Gln NC_000008.11:10613321:G:T p.(Pro259Gln) NC_000008.11:10613321:G:T p.(Pro259Gln) NC_000008.11:10613321:G:T Identity +NM_178857.6:c.40C>G NP_849188.4:p.Arg14Gly NC_000008.11:10623161:G:C p.(Arg14Gly) NC_000008.11:10623161:G:C p.(Arg14Gly) NC_000008.11:10623161:G:C Identity +NM_004519.4:c.145G>A NP_004510.1:p.Asp49Asn NC_000008.11:132480387:C:T p.(Asp49Asn) NC_000008.11:132480387:C:T p.(Asp49Asn) NC_000008.11:132480387:C:T Identity +NM_001135242.2:c.1027C>T NP_001128714.1:p.Arg343Cys NC_000008.11:133239035:G:A p.(Arg343Cys) NC_000008.11:133239035:G:A p.(Arg343Cys) NC_000008.11:133239035:G:A Identity +NM_001127505.3:c.354T>A NP_001120977.1:p.Asp118Glu NC_000008.11:18067229:A:T p.(Asp118Glu) NC_000008.11:18067229:A:T p.(Asp118Glu) NC_000008.11:18067229:A:T Identity +NM_001127505.3:c.343G>A NP_001120977.1:p.Ala115Thr NC_000008.11:18067240:C:T p.(Ala115Thr) NC_000008.11:18067240:C:T p.(Ala115Thr) NC_000008.11:18067240:C:T Identity +NM_000553.6:c.1466C>T NP_000544.2:p.Pro489Leu NC_000008.11:31087809:C:T p.(Pro489Leu) NC_000008.11:31087809:C:T p.(Pro489Leu) NC_000008.11:31087809:C:T Identity +LRG_1247t1:c.592G>A LRG_1247p1:p.Gly198Ser NC_000007.14:4783768:G:A ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found +NM_001379277.1:c.6194A>G NP_001366206.1:p.Tyr2065Cys NC_000007.14:92108495:A:G p.(Tyr2065Cys) NC_000007.14:92108495:A:G p.(Tyr2065Cys) NC_000007.14:92108495:A:G Identity +NM_178857.6:c.6916T>A NP_849188.4:p.Trp2306Arg NC_000008.11:10607181:A:T p.(Trp2306Arg) NC_000008.11:10607181:A:T p.(Trp2306Arg) NC_000008.11:10607181:A:T Identity +NM_178857.6:c.6644C>T NP_849188.4:p.Pro2215Leu NC_000008.11:10607453:G:A p.(Pro2215Leu) NC_000008.11:10607453:G:A p.(Pro2215Leu) NC_000008.11:10607453:G:A Identity +NM_178857.6:c.275C>T NP_849188.4:p.Ala92Val NC_000008.11:10622926:G:A p.(Ala92Val) NC_000008.11:10622926:G:A p.(Ala92Val) NC_000008.11:10622926:G:A Identity +NM_001356429.2:c.3G>A NP_001343358.1:p.Met1Ile NC_000008.11:15540432:G:A p.(Met1Ile) NC_000008.11:15540432:G:A p.Met1? NC_000008.11:15540432:G:A Identity +NM_001127505.3:c.892G>C NP_001120977.1:p.Val298Leu NC_000008.11:18059578:C:G p.(Val298Leu) NC_000008.11:18059578:C:G p.(Val298Leu) NC_000008.11:18059578:C:G Identity +NM_000553.6:c.2537A>G NP_000544.2:p.Glu846Gly NC_000008.11:31120330:A:G p.(Glu846Gly) NC_000008.11:31120330:A:G p.(Glu846Gly) NC_000008.11:31120330:A:G Identity +NM_001164507.2:c.7266_7268delinsTC NP_001157979.2:p.Gly2423fs NC_000002.12:151650338:CCT:GA p.(Gly2423SerfsTer8) NC_000002.12:151650337:TCCT:TGA p.(Gly2423HisfsTer8) NC_000002.12:151650338:CCT:GA Analogous +NM_000382.3:c.231del NP_000373.1:p.Glu77fs NC_000017.11:19651622:AA:A p.(Glu77AspfsTer30) NC_000017.11:19651622:AA:A p.(Glu77AspfsTer30) NC_000017.11:19651623:A: Analogous +NM_001142301.1:c.1457A>C NP_001135773.1:p.Tyr486Ser NC_000008.11:93795433:A:C p.(Tyr486Ser) NC_000008.11:93795433:A:C p.(Tyr486Ser) NC_000008.11:93795433:A:C Identity +NM_005502.4:c.787C>G NP_005493.2:p.His263Asp NC_000009.12:104845502:G:C p.(His263Asp) NC_000009.12:104845502:G:C p.(His263Asp) NC_000009.12:104845502:G:C Identity +NM_001166280.2:c.887A>G NP_001159752.1:p.Asn296Ser NC_000009.12:110747743:A:G p.(Asn296Ser) NC_000009.12:110747743:A:G p.(Asn296Ser) NC_000009.12:110747743:A:G Identity +NM_000498.3:c.1006G>A NP_000489.3:p.Val336Met NC_000008.11:142913399:C:T p.(Val336Met) NC_000008.11:142913399:C:T p.(Val336Met) NC_000008.11:142913399:C:T Identity +NM_005144.5:c.1517A>G NP_005135.2:p.Glu506Gly NC_000008.11:22125620:T:C p.(Glu506Gly) NC_000008.11:22125620:T:C p.(Glu506Gly) NC_000008.11:22125620:T:C Identity +NM_001017420.3:c.1109_1111del NP_001017420.1:p.Lys370del NC_000008.11:27787975:AAAAAAA:AAAA p.(Lys370del) NC_000008.11:27787975:AAAAAAA:AAAA p.(Lys370del) NC_000008.11:27787979:AAA: Identity +NM_000553.6:c.2128A>G NP_000544.2:p.Ile710Val NC_000008.11:31111653:A:G p.(Ile710Val) NC_000008.11:31111653:A:G p.(Ile710Val) NC_000008.11:31111653:A:G Identity +NM_000037.4:c.1337G>C NP_000028.3:p.Arg446Thr NC_000008.11:41717019:C:G p.(Arg446Thr) NC_000008.11:41717019:C:G p.(Arg446Thr) NC_000008.11:41717019:C:G Identity +NM_000037.4:c.1628C>T NP_000028.3:p.Ala543Val NC_000008.11:41715048:G:A p.(Ala543Val) NC_000008.11:41715048:G:A p.(Ala543Val) NC_000008.11:41715048:G:A Identity +NM_001363746.1:c.704A>G NP_001350675.1:p.Gln235Arg NC_000009.12:136198689:T:C p.(Gln235Arg) NC_000009.12:136198689:T:C p.(Gln235Arg) NC_000009.12:136198689:T:C Identity +NM_001002269.2:c.166A>C NP_001002269.1:p.Asn56His NC_000009.12:37784878:T:G p.(Asn56His) NC_000009.12:37784878:T:G p.(Asn56His) NC_000009.12:37784878:T:G Identity +NM_001318360.2:c.1094CTC[1] NP_001305289.1:p.Pro366del NC_000009.12:108908323:GAGGAG:GAG p.(Pro366del) NC_000009.12:108908328:G:GAG ERR:Parse ERR:Parse Identity +NM_001370060.1:c.550G>A NP_001356989.1:p.Ala184Thr NC_000009.12:14859263:C:T p.(Ala184Thr) NC_000009.12:14859263:C:T p.(Ala184Thr) NC_000009.12:14859263:C:T Identity +NM_001042413.2:c.1090C>T NP_001035878.1:p.Pro364Ser NC_000009.12:4118387:G:A p.(Pro364Ser) NC_000009.12:4118387:G:A p.(Pro364Ser) NC_000009.12:4118387:G:A Identity +NM_000492.4:c.865A>T NP_000483.3:p.Arg289Ter NC_000007.14:117536668:A:T p.(Arg289Ter) NC_000007.14:117536668:A:T p.(Arg289Ter) NC_000007.14:117536668:A:T Identity +NM_000170.3:c.2518A>G NP_000161.2:p.Met840Val NC_000009.12:6550853:T:C p.(Met840Val) NC_000009.12:6550853:T:C p.(Met840Val) NC_000009.12:6550853:T:C Identity +NM_001018037.2:c.6014A>G NP_001018047.1:p.Tyr2005Cys NC_000009.12:77337289:A:G p.(Tyr2005Cys) NC_000009.12:77337289:A:G p.(Tyr2005Cys) NC_000009.12:77337289:A:G Identity +NM_001018037.2:c.7340T>C NP_001018047.1:p.Ile2447Thr NC_000009.12:77353445:T:C p.(Ile2447Thr) NC_000009.12:77353445:T:C p.(Ile2447Thr) NC_000009.12:77353445:T:C Identity +NM_001018113.3:c.357A>T NP_001018123.1:p.Glu119Asp NC_000023.11:14865153:T:A p.(Glu119Asp) NC_000023.11:14865153:T:A p.(Glu119Asp) NC_000023.11:14865153:T:A Identity +NM_000033.4:c.1354C>T NP_000024.2:p.Arg452Trp NC_000023.11:153736473:C:T p.(Arg452Trp) NC_000023.11:153736473:C:T p.(Arg452Trp) NC_000023.11:153736473:C:T Identity +NM_001379081.2:c.3819T>A NP_001366010.1:p.Asp1273Glu NC_000009.12:14797517:A:T p.(Asp1273Glu) NC_000009.12:14797517:A:T p.(Asp1273Glu) NC_000009.12:14797517:A:T Identity +NM_001018037.2:c.1396C>T NP_001018047.1:p.Leu466Phe NC_000009.12:77227428:C:T p.(Leu466Phe) NC_000009.12:77227428:C:T p.(Leu466Phe) NC_000009.12:77227428:C:T Identity +NM_000543.5:c.241C>T NP_000534.3:p.Arg81Ter NC_000011.10:6390838:C:T p.(Arg81Ter) NC_000011.10:6390838:C:T p.(Arg81Ter) NC_000011.10:6390838:C:T Identity +NM_000128.4:c.1560dup NP_000119.1:p.Tyr521fs NC_000004.12:186286489:GGGGG:GGGGGG p.(Tyr521ValfsTer33) NC_000004.12:186286489:GGGGG:GGGGGG p.(Tyr521ValfsTer33) ERR:SPDI Analogous +NM_000228.3:c.870T>A NP_000219.2:p.Cys290Ter NC_000001.11:209630687:A:T p.(Cys290Ter) NC_000001.11:209630687:A:T p.(Cys290Ter) NC_000001.11:209630687:A:T Identity +NM_138694.4:c.10418del NP_619639.3:p.Phe3473fs NC_000006.12:51659707:AA:A p.(Phe3473SerfsTer38) NC_000006.12:51659707:AA:A p.(Phe3473SerfsTer38) NC_000006.12:51659707:A: Analogous +NM_000478.6:c.522del NP_000469.3:p.Ser175fs NC_000001.11:21564085:CCCCC:CCCC p.(Ser175AlafsTer23) NC_000001.11:21564085:CCCCC:CCCC p.(Ser175AlafsTer23) NC_000001.11:21564089:C: Analogous +NM_000152.5:c.2015G>A NP_000143.2:p.Arg672Gln NC_000017.11:80113001:G:A p.(Arg672Gln) NC_000017.11:80113001:G:A p.(Arg672Gln) NC_000017.11:80113001:G:A Identity +NM_000152.5:c.1222A>G NP_000143.2:p.Met408Val NC_000017.11:80108723:A:G p.(Met408Val) NC_000017.11:80108723:A:G p.(Met408Val) NC_000017.11:80108723:A:G Identity +NM_000028.3:c.1078C>T NP_000019.2:p.His360Tyr NC_000001.11:99874805:C:T p.(His360Tyr) NC_000001.11:99874805:C:T p.(His360Tyr) NC_000001.11:99874805:C:T Identity +NM_000232.5:c.-15_8del NP_000223.1:p.Met1fs NC_000004.12:52038251:GCCGCCATCTTCCCGCGCCCGCCGCCGCC:GCCGCC p.(Met1CysfsTer16) NC_000004.12:52038251:GCCGCCATCTTCCCGCGCCCGCCGCCGCC:GCCGCC p.Met1? NC_000004.12:52038251:GCCGCCATCTTCCCGCGCCCGCC: Analogous +NM_000441.2:c.142G>T NP_000432.1:p.Glu48Ter NC_000007.14:107661782:G:T p.(Glu48Ter) NC_000007.14:107661782:G:T p.(Glu48Ter) NC_000007.14:107661782:G:T Identity +NM_000110.4:c.2589dup NP_000101.2:p.Pro864fs NC_000001.11:97193101:TTT:TTTT p.(Pro864ThrfsTer7) NC_000001.11:97193101:TTT:TTTT p.(Pro864ThrfsTer7) ERR:SPDI Analogous +NM_000071.3:c.442G>A NP_000062.1:p.Gly148Arg NC_000021.9:43066251:C:T p.(Gly148Arg) NC_000021.9:43066251:C:T p.(Gly148Arg) NC_000021.9:43066251:C:T Identity +LRG_1163t1:c.652C>T LRG_1163p1:p.Arg218Cys NC_000023.11:55020490:G:A ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1163t1, alt_ac=LRG_1163t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1163t1 not found +NM_005522.5:c.216_218del NP_005513.2:p.Arg73del NC_000007.14:27095694:CGA: p.(Arg73del) NC_000007.14:27095694:CGA: p.(Arg73del) NC_000007.14:27095694:CGA: Identity +NM_006766.5:c.4254_4257del NP_006757.2:p.Glu1419fs NC_000008.11:41933962:CTCACT:CT p.(Glu1419TrpfsTer12) NC_000008.11:41933962:CTCACT:CT p.(Glu1419TrpfsTer12) NC_000008.11:41933962:CTCA: Analogous +NM_000033.4:c.529C>T NP_000024.2:p.Gln177Ter NC_000023.11:153725794:C:T p.(Gln177Ter) NC_000023.11:153725794:C:T p.(Gln177Ter) NC_000023.11:153725794:C:T Identity +NM_004518.6:c.793G>C NP_004509.2:p.Ala265Pro NC_000020.11:63442428:C:G p.(Ala265Pro) NC_000020.11:63442428:C:G p.(Ala265Pro) NC_000020.11:63442428:C:G Identity +NM_023067.4:c.777dup NP_075555.1:p.Arg260fs NC_000003.12:138945945:T:TT p.(Arg260ThrfsTer274) NC_000003.12:138945945:T:TT p.(Arg260ThrfsTer274) ERR:SPDI Analogous +NM_017890.5:c.11675C>A NP_060360.3:p.Ser3892Ter NC_000008.11:99871551:C:A p.(Ser3892Ter) NC_000008.11:99871551:C:A p.(Ser3892Ter) NC_000008.11:99871551:C:A Identity +NM_000098.3:c.1774_1775del NP_000089.1:p.Leu592fs NC_000001.11:53213391:CT: p.(Leu592GlufsTer16) NC_000001.11:53213391:CT: p.(Leu592GlufsTer16) NC_000001.11:53213391:CT: Analogous +NM_206933.4:c.13257_13263del NP_996816.3:p.Phe4419fs NC_000001.11:215674647:AAGGGAGAAG:AAG p.(Phe4419LeufsTer2) NC_000001.11:215674647:AAGGGAGAAG:AAG p.(Phe4419LeufsTer2) NC_000001.11:215674647:AAGGGAG: Analogous +NM_000033.4:c.38A>C NP_000024.2:p.Asn13Thr NC_000023.11:153725303:A:C p.(Asn13Thr) NC_000023.11:153725303:A:C p.(Asn13Thr) NC_000023.11:153725303:A:C Identity +NM_000053.4:c.2157C>A NP_000044.2:p.Tyr719Ter NC_000013.11:51958508:G:T p.(Tyr719Ter) NC_000013.11:51958508:G:T p.(Tyr719Ter) NC_000013.11:51958508:G:T Identity +NM_000370.3:c.13C>T NP_000361.1:p.Arg5Ter NC_000008.11:63086008:G:A p.(Arg5Ter) NC_000008.11:63086008:G:A p.(Arg5Ter) NC_000008.11:63086008:G:A Identity +NM_002444.3:c.1657C>T NP_002435.1:p.Arg553Ter NC_000023.11:65739815:C:T p.(Arg553Ter) NC_000023.11:65739815:C:T p.(Arg553Ter) NC_000023.11:65739815:C:T Identity +NM_001330582.2:c.529C>G NP_001317511.1:p.His177Asp NC_000008.11:95048546:C:G p.(His177Asp) NC_000008.11:95048546:C:G p.(His177Asp) NC_000008.11:95048546:C:G Identity +NM_000060.4:c.372_375dup NP_000051.1:p.Tyr126Hisfs NC_000003.12:15641969:CATT:CATTCATT ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_000136.3:c.1037dup NP_000127.2:p.Ser347fs NC_000009.12:95117349:GG:GGG p.(Ser347IlefsTer27) NC_000009.12:95117349:GG:GGG p.(Ser347IlefsTer27) ERR:SPDI Analogous +NM_138694.4:c.4593dup NP_619639.3:p.Asn1532Ter NC_000006.12:52025216:AAAAAAA:AAAAAAAA p.(Asn1532Ter) NC_000006.12:52025216:AAAAAAA:AAAAAAAA p.(Asn1532Ter) ERR:SPDI Identity +NM_017890.5:c.9066del NP_060360.3:p.Gln3023fs NC_000008.11:99820115:TTTT:TTT p.(Gln3023ArgfsTer20) NC_000008.11:99820115:TTTT:TTT p.(Gln3023ArgfsTer20) NC_000008.11:99820118:T: Analogous +NM_017890.5:c.6418C>T NP_060360.3:p.Gln2140Ter NC_000008.11:99699820:C:T p.(Gln2140Ter) NC_000008.11:99699820:C:T p.(Gln2140Ter) NC_000008.11:99699820:C:T Identity +NM_001278055.2:c.787_788del NP_001264984.1:p.Leu263fs NC_000013.11:23355382:AAA:A p.(Leu263SerfsTer2) NC_000013.11:23355382:AAA:A p.(Leu263SerfsTer2) NC_000013.11:23355382:AA: Analogous +NM_000132.4:c.3091_3094del NP_000123.1:p.Lys1031fs NC_000023.11:154930695:TCTTTCT:TCT p.(Lys1031LeufsTer9) NC_000023.11:154930695:TCTTTCT:TCT p.(Lys1031LeufsTer9) NC_000023.11:154930695:TCTT: Analogous +NM_000527.5:c.16_17insTTCCT NP_000518.1:p.Trp6fs NC_000019.10:11089562:CT:CTTTCCT p.(Trp6PhefsTer202) NC_000019.10:11089563:T:TTCCT p.(Trp6PhefsTer202) NC_000019.10:11089564:TG:TTCCT Analogous +NM_000018.4:c.1280G>A NP_000009.1:p.Trp427Ter NC_000017.11:7223822:G:A p.(Trp427Ter) NC_000017.11:7223822:G:A p.(Trp427Ter) NC_000017.11:7223822:G:A Identity +NM_000023.4:c.755del NP_000014.1:p.Lys252fs NC_000017.11:50170148:AA:A p.(Lys252SerfsTer69) NC_000017.11:50170148:AA:A p.(Lys252SerfsTer69) NC_000017.11:50170149:A: Analogous +NM_000051.4:c.3068del NP_000042.3:p.Gly1023fs NC_000011.10:108271395:GG:G p.(Gly1023GlufsTer6) NC_000011.10:108271395:GG:G p.(Gly1023GlufsTer6) NC_000011.10:108271396:G: Analogous +NM_000520.6:c.1150C>T NP_000511.2:p.Gln384Ter NC_000015.10:72346706:G:A p.(Gln384Ter) NC_000015.10:72346706:G:A p.(Gln384Ter) NC_000015.10:72346706:G:A Identity +NM_001163817.2:c.1066del NP_001157289.1:p.His356fs NC_000011.10:71435736:GG:G p.(His356ThrfsTer57) NC_000011.10:71435736:GG:G p.(His356ThrfsTer57) NC_000011.10:71435736:G: Analogous +NM_000352.6:c.4474del NP_000343.2:p.Ala1492fs NC_000011.10:17394336:CC:C p.(Ala1492ProfsTer5) NC_000011.10:17394336:CC:C p.(Ala1492ProfsTer5) NC_000011.10:17394336:C: Analogous +NM_023067.4:c.293G>A NP_075555.1:p.Trp98Ter NC_000003.12:138946429:C:T p.(Trp98Ter) NC_000003.12:138946429:C:T p.(Trp98Ter) NC_000003.12:138946429:C:T Identity +NM_000091.5:c.3416C>T NP_000082.2:p.Pro1139Leu NC_000002.12:227294567:C:T p.(Pro1139Leu) NC_000002.12:227294567:C:T p.(Pro1139Leu) NC_000002.12:227294567:C:T Identity +NM_000092.5:c.446G>T NP_000083.3:p.Gly149Val NC_000002.12:227118687:C:A p.(Gly149Val) NC_000002.12:227118687:C:A p.(Gly149Val) NC_000002.12:227118687:C:A Identity +NM_001166133.2:c.2389G>A NP_001159605.1:p.Glu797Lys NC_000004.12:78337783:G:A p.(Glu797Lys) NC_000004.12:78337783:G:A p.(Glu797Lys) NC_000004.12:78337783:G:A Identity +NM_000152.5:c.2214G>A NP_000143.2:p.Trp738Ter NC_000017.11:80116991:G:A p.(Trp738Ter) NC_000017.11:80116991:G:A p.(Trp738Ter) NC_000017.11:80116991:G:A Identity +NM_001164716.1:c.204G>A NP_001158188.1:p.Trp68Ter NC_000011.10:64759694:C:T p.(Trp68Ter) NC_000011.10:64759694:C:T p.(Trp68Ter) NC_000011.10:64759694:C:T Identity +NM_006516.4:c.418G>A NP_006507.2:p.Val140Met NC_000001.11:42930723:C:T p.(Val140Met) NC_000001.11:42930723:C:T p.(Val140Met) NC_000001.11:42930723:C:T Identity +NM_000359.3:c.398_407dup NP_000350.1:p.Tyr136Ter NC_000014.9:24261795:TACTCATACT:TACTCATACTTACTCATACT p.(Tyr136Ter) NC_000014.9:24261795:TACTCATACT:TACTCATACTTACTCATACT p.(Tyr136Ter) ERR:SPDI Identity +NM_001278055.2:c.8936dup NP_001264984.1:p.Leu2981fs NC_000013.11:23334498:A:AA p.(Leu2981ThrfsTer4) NC_000013.11:23334498:A:AA p.(Leu2981ThrfsTer4) ERR:SPDI Analogous +NM_000155.4:c.912dup NP_000146.2:p.Thr305fs NC_000009.12:34649414:CCC:CCCC p.(Thr305HisfsTer48) NC_000009.12:34649414:CCC:CCCC p.(Thr305HisfsTer48) ERR:SPDI Analogous +NM_000018.4:c.865G>A NP_000009.1:p.Gly289Arg NC_000017.11:7222288:G:A p.(Gly289Arg) NC_000017.11:7222288:G:A p.(Gly289Arg) NC_000017.11:7222288:G:A Identity +NM_000352.6:c.1603_1604insA NP_000343.2:p.Ala535fs NC_000011.10:17442746::T p.(Ala535AspfsTer87) NC_000011.10:17442745:G:T p.(Ala535AspfsTer87) NC_000011.10:17442746:GC:T Analogous +NM_000137.4:c.744del NP_000128.1:p.Pro249fs NC_000015.10:80173048:GGG:GG p.(Pro249HisfsTer55) NC_000015.10:80173048:GGG:GG p.(Pro249HisfsTer55) NC_000015.10:80173050:G: Analogous +NM_000071.3:c.676G>A NP_000062.1:p.Ala226Thr NC_000021.9:43065262:C:T p.(Ala226Thr) NC_000021.9:43065262:C:T p.(Ala226Thr) NC_000021.9:43065262:C:T Identity +NM_001164716.1:c.1872dup NP_001158188.1:p.Gly625fs NC_000011.10:64750416:AAA:AAAA p.(Gly625TrpfsTer9) NC_000011.10:64750416:AAA:AAAA p.(Gly625TrpfsTer9) ERR:SPDI Analogous +NM_000310.4:c.48_54del NP_000301.1:p.Trp17fs NC_000001.11:40097184:GGTCCATGG:GG p.(Trp17AlafsTer18) NC_000001.11:40097184:GGTCCATGG:GG p.(Trp17AlafsTer18) NC_000001.11:40097184:GGTCCAT: Analogous +NM_017890.5:c.7255A>T NP_060360.3:p.Lys2419Ter NC_000008.11:99766902:A:T p.(Lys2419Ter) NC_000008.11:99766902:A:T p.(Lys2419Ter) NC_000008.11:99766902:A:T Identity +NM_000360.4:c.12dup NP_000351.2:p.Asp5fs NC_000011.10:2171774:GGGGG:GGGGGG p.(Asp5ArgfsTer16) NC_000011.10:2171774:GGGGG:GGGGGG p.(Asp5ArgfsTer16) ERR:SPDI Analogous +NM_000057.4:c.3855C>A NP_000048.1:p.Tyr1285Ter NC_000015.10:90809239:C:A p.(Tyr1285Ter) NC_000015.10:90809239:C:A p.(Tyr1285Ter) NC_000015.10:90809239:C:A Identity +NM_001272003.2:c.1174C>T NP_001258932.1:p.Leu392Phe NC_000009.12:135765731:C:T p.(Leu392Phe) NC_000009.12:135765731:C:T p.(Leu392Phe) NC_000009.12:135765731:C:T Identity +NM_000068.4:c.3544dup NP_000059.3:p.Leu1182fs NC_000019.10:13286523:GGGGGGG:GGGGGGGG p.(Leu1182ProfsTer38) NC_000019.10:13286523:GGGGGGG:GGGGGGGG p.(Leu1182ProfsTer38) ERR:SPDI Analogous +NM_001002269.2:c.80T>G NP_001002269.1:p.Val27Gly NC_000009.12:37784964:A:C p.(Val27Gly) NC_000009.12:37784964:A:C p.(Val27Gly) NC_000009.12:37784964:A:C Identity +NM_017890.5:c.11180_11189del NP_060360.3:p.Ser3727fs NC_000008.11:99861835:CACTGGATGA: p.(Ser3727TrpfsTer40) NC_000008.11:99861835:CACTGGATGA: p.(Ser3727TrpfsTer40) NC_000008.11:99861835:CACTGGATGA: Analogous +NM_000136.3:c.640dup NP_000127.2:p.Ile214fs NC_000009.12:95149968:TTT:TTTT p.(Ile214AsnfsTer8) NC_000009.12:95149968:TTT:TTTT p.(Ile214AsnfsTer8) ERR:SPDI Analogous +NM_000028.3:c.276delG NP_000019.2:p.Gln92Hisfs NC_000001.11:99861695:G: p.(Gln92HisfsTer16) NC_000001.11:99861695:G: p.(Gln92HisfsTer16) NC_000001.11:99861695:G: Analogous +NM_000053.4:c.2817G>T NP_000044.2:p.Trp939Cys NC_000013.11:51949709:C:A p.(Trp939Cys) NC_000013.11:51949709:C:A p.(Trp939Cys) NC_000013.11:51949709:C:A Identity +NM_000182.5:c.2071G>T NP_000173.2:p.Glu691Ter NC_000002.12:26191557:C:A p.(Glu691Ter) NC_000002.12:26191557:C:A p.(Glu691Ter) NC_000002.12:26191557:C:A Identity +NM_000303.3:c.205C>T NP_000294.1:p.Pro69Ser NC_000016.10:8804792:C:T p.(Pro69Ser) NC_000016.10:8804792:C:T p.(Pro69Ser) NC_000016.10:8804792:C:T Identity +NM_001159508.3:c.1109A>G NP_001152980.2:p.Tyr370Cys NC_000015.10:40418189:A:G p.(Tyr370Cys) NC_000015.10:40418189:A:G p.(Tyr370Cys) NC_000015.10:40418189:A:G Identity +NM_000051.4:c.2377_2378dup NP_000042.3:p.Ser794fs NC_000011.10:108258985:AA:AAAA p.(Ser794ArgfsTer15) NC_000011.10:108258985:AA:AAAA p.(Ser794ArgfsTer15) ERR:SPDI Analogous +NM_001278055.2:c.10363C>T NP_001264984.1:p.Gln3455Ter NC_000013.11:23333071:G:A p.(Gln3455Ter) NC_000013.11:23333071:G:A p.(Gln3455Ter) NC_000013.11:23333071:G:A Identity +NM_000153.4:c.1272_1273insTAG NP_000144.2:p.Val425Ter NC_000014.9:87949910:CT:CTACT p.(Val425Ter) NC_000014.9:87949909:C:CTA p.(Val425Ter) NC_000014.9:87949910:CC:CTA Identity +NM_000182.5:c.1202del NP_000173.2:p.Gln401fs NC_000002.12:26204079:T: p.(Gln401ArgfsTer8) NC_000002.12:26204079:T: p.(Gln401ArgfsTer8) NC_000002.12:26204079:T: Analogous +NM_000391.4:c.640C>T NP_000382.3:p.Gln214Ter NC_000011.10:6617021:G:A p.(Gln214Ter) NC_000011.10:6617021:G:A p.(Gln214Ter) NC_000011.10:6617021:G:A Identity +NM_015243.3:c.1664_1671del NP_056058.2:p.Gln555fs NC_000008.11:99142984:CAACAAGAC:C p.(Gln555LeufsTer7) NC_000008.11:99142984:CAACAAGAC:C p.(Gln555LeufsTer7) NC_000008.11:99142985:AACAAGAC: Analogous +NM_014845.6:c.2639T>A NP_055660.1:p.Ile880Asn NC_000006.12:109825179:T:A p.(Ile880Asn) NC_000006.12:109825179:T:A p.(Ile880Asn) NC_000006.12:109825179:T:A Identity +LRG_395t1:c.482G>A LRG_395p1:p.Gly161Asp NC_000003.12:46858460:C:T ERR:Data provider error: ValueError: Transcript LRG_395t1 not found ERR:Data provider error: ValueError: Transcript LRG_395t1 not found ERR:AlignmentMapper(tx_ac=LRG_395t1, alt_ac=LRG_395t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_395t1, alt_ac=LRG_395t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_395t1 not found +NM_000117.3:c.436G>A NP_000108.1:p.Glu146Lys NC_000023.11:154380788:G:A p.(Glu146Lys) NC_000023.11:154380788:G:A p.(Glu146Lys) NC_000023.11:154380788:G:A Identity +LRG_742t1:c.13A>G LRG_742p1:p.Thr5Ala NC_000010.11:119651687:A:G ERR:Data provider error: ValueError: Transcript LRG_742t1 not found ERR:Data provider error: ValueError: Transcript LRG_742t1 not found ERR:AlignmentMapper(tx_ac=LRG_742t1, alt_ac=LRG_742t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_742t1, alt_ac=LRG_742t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_742t1 not found +NM_001329237.2:c.727G>T NP_001316166.1:p.Glu243Ter NC_000014.9:75117229:C:A p.(Glu243Ter) NC_000014.9:75117229:C:A p.(Glu243Ter) NC_000014.9:75117229:C:A Identity +NM_001031695.4:c.706C>T NP_001026865.1:p.Pro236Ser NC_000022.11:35761246:G:A p.(Pro236Ser) NC_000022.11:35761246:G:A p.(Pro236Ser) NC_000022.11:35761246:G:A Identity +NM_001317195.3:c.410G>A NP_001304124.1:p.Arg137Lys NC_000016.10:68678519:G:A p.(Arg137Lys) NC_000016.10:68678519:G:A p.(Arg137Lys) NC_000016.10:68678519:G:A Identity +NM_001384738.1:c.1207G>A NP_001371667.1:p.Ala403Thr NC_000003.12:47916655:C:T p.(Ala403Thr) NC_000003.12:47916655:C:T p.(Ala403Thr) NC_000003.12:47916655:C:T Identity +NM_018451.5:c.469C>T NP_060921.3:p.Gln157Ter NC_000013.11:24912044:G:A p.(Gln157Ter) NC_000013.11:24912044:G:A p.(Gln157Ter) NC_000013.11:24912044:G:A Identity +NM_000094.4:c.4568del NP_000085.1:p.Pro1523fs NC_000003.12:48582508:GG:G p.(Pro1523HisfsTer187) NC_000003.12:48582508:GG:G p.(Pro1523HisfsTer187) NC_000003.12:48582508:G: Analogous +NM_000098.3:c.110_111dup NP_000089.1:p.Ser38fs NC_000001.11:53197050:GCGC:GCGCGC p.(Ser38AlafsTer36) NC_000001.11:53197050:GCGC:GCGCGC p.(Ser38AlafsTer36) ERR:SPDI Analogous +NM_001204760.2:c.544A>G NP_001191689.1:p.Met182Val NC_000004.12:165995089:A:G p.(Met182Val) NC_000004.12:165995089:A:G p.(Met182Val) NC_000004.12:165995089:A:G Identity +NM_001367562.3:c.572G>A NP_001354491.2:p.Arg191Gln NC_000007.14:75981111:G:A p.(Arg191Gln) NC_000007.14:75981111:G:A p.(Arg191Gln) NC_000007.14:75981111:G:A Identity +LRG_402t1:c.728A>G LRG_402p1:p.Glu243Gly NC_000001.11:237388137:A:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_207581.4:c.463C>G NP_997464.2:p.Leu155Val NC_000015.10:45116637:C:G p.(Leu155Val) NC_000015.10:45116637:C:G p.(Leu155Val) NC_000015.10:45116637:C:G Identity +NM_001005609.2:c.827G>T NP_001005609.1:p.Arg276Leu NC_000023.11:70033430:G:T p.(Arg276Leu) NC_000023.11:70033430:G:T p.(Arg276Leu) NC_000023.11:70033430:G:T Identity +NM_000348.4:c.542C>T NP_000339.2:p.Pro181Leu NC_000002.12:31531375:G:A p.(Pro181Leu) NC_000002.12:31531375:G:A p.(Pro181Leu) NC_000002.12:31531375:G:A Identity +NM_001407593.1:c.869T>A NP_001394522.1:p.Leu290Ter NC_000017.11:43094661:A:T p.(Leu290Ter) NC_000017.11:43094661:A:T p.(Leu290Ter) NC_000017.11:43094661:A:T Identity +NM_001289905.2:c.1200_1216dup NP_001276834.1:p.Asn406fs NC_000022.11:17108516:AGCAGGAGATGGTGGAGAGCA:AGCAGGAGATGGTGGAGAGCAGGAGATGGTGGAGAGCA p.(Asn406ArgfsTer50) NC_000022.11:17108516:AGCAGGAGATGGTGGAGAGCA:AGCAGGAGATGGTGGAGAGCAGGAGATGGTGGAGAGCA p.(Asn406ArgfsTer50) ERR:SPDI Analogous +NM_130803.3:c.207del NP_570715.2:p.Asp70fs NC_000011.10:64809902:GGGGG:GGGG p.(Asp70ThrfsTer49) NC_000011.10:64809902:GGGGG:GGGG p.(Asp70ThrfsTer49) NC_000011.10:64809902:G: Analogous +NM_000489.6:c.6254G>A NP_000480.3:p.Arg2085His NC_000023.11:77574321:C:T p.(Arg2085His) NC_000023.11:77574321:C:T p.(Arg2085His) NC_000023.11:77574321:C:T Identity +NM_001330437.2:c.931A>G NP_001317366.1:p.Met311Val NC_000012.12:112477727:A:G p.(Met311Val) NC_000012.12:112477727:A:G p.(Met311Val) NC_000012.12:112477727:A:G Identity +NM_000548.5:c.5234G>A NP_000539.2:p.Arg1745His NC_000016.10:2088299:G:A p.(Arg1745His) NC_000016.10:2088299:G:A p.(Arg1745His) NC_000016.10:2088299:G:A Identity +NM_000142.5:c.1052C>G NP_000133.1:p.Ser351Cys NC_000004.12:1803812:C:G p.(Ser351Cys) NC_000004.12:1803812:C:G p.(Ser351Cys) NC_000004.12:1803812:C:G Identity +NM_000546.6:c.731G>A NP_000537.3:p.Gly244Asp NC_000017.11:7674231:C:T p.(Gly244Asp) NC_000017.11:7674231:C:T p.(Gly244Asp) NC_000017.11:7674231:C:T Identity +NM_001281303.2:c.992C>A NP_001268232.1:p.Ser331Tyr NC_000009.12:92047260:G:T p.(Ser331Tyr) NC_000009.12:92047260:G:T p.(Ser331Tyr) NC_000009.12:92047260:G:T Identity +NM_001136029.4:c.4567A>G NP_001129501.1:p.Ser1523Gly NC_000022.11:31906278:A:G p.(Ser1523Gly) NC_000022.11:31906278:A:G p.(Ser1523Gly) NC_000022.11:31906278:A:G Identity +NM_000179.3:c.3449T>A NP_000170.1:p.Leu1150Ter NC_000002.12:47804919:T:A p.(Leu1150Ter) NC_000002.12:47804919:T:A p.(Leu1150Ter) NC_000002.12:47804919:T:A Identity +NM_001376.5:c.2971A>G NP_001367.2:p.Met991Val NC_000014.9:101991628:A:G p.(Met991Val) NC_000014.9:101991628:A:G p.(Met991Val) NC_000014.9:101991628:A:G Identity +NM_000169.2:c.994_995delAGinsGA NP_000160.1:p.Arg332Glu NC_000023.11:101398373:CT:TC ERR:Data provider error: ValueError: Transcript NM_000169.2 not found ERR:Data provider error: ValueError: Transcript NM_000169.2 not found ERR:AlignmentMapper(tx_ac=NM_000169.2, alt_ac=NM_000169.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000169.2, alt_ac=NM_000169.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000169.2 not found +NM_001080463.2:c.4625C>T NP_001073932.1:p.Ala1542Val NC_000011.10:103165910:C:T p.(Ala1542Val) NC_000011.10:103165910:C:T p.(Ala1542Val) NC_000011.10:103165910:C:T Identity +NM_000612.6:c.99C>A NP_000603.1:p.Cys33Ter NC_000011.10:2135424:G:T p.(Cys33Ter) NC_000011.10:2135424:G:T p.(Cys33Ter) NC_000011.10:2135424:G:T Identity +NM_001321193.3:c.248T>A NP_001308122.1:p.Leu83Gln NC_000003.12:177051682:A:T p.(Leu83Gln) NC_000003.12:177051682:A:T p.(Leu83Gln) NC_000003.12:177051682:A:T Identity +NM_001166136.2:c.24C>A NP_001159608.1:p.Cys8Ter NC_000004.12:5697611:G:T p.(Cys8Ter) NC_000004.12:5697611:G:T p.(Cys8Ter) NC_000004.12:5697611:G:T Identity +NM_001114980.2:c.1445T>C NP_001108452.1:p.Ile482Thr NC_000003.12:189890862:T:C p.(Ile482Thr) NC_000003.12:189890862:T:C p.(Ile482Thr) NC_000003.12:189890862:T:C Identity +NM_000414.4:c.1528G>A NP_000405.1:p.Asp510Asn NC_000005.10:119525239:G:A p.(Asp510Asn) NC_000005.10:119525239:G:A p.(Asp510Asn) NC_000005.10:119525239:G:A Identity +NM_001256850.1:c.70569del NP_001243779.1:p.Phe23524fs NC_000002.12:178570639:G: p.(Phe23524LeufsTer7) NC_000002.12:178570639:G: p.(Phe23524LeufsTer7) NC_000002.12:178570639:G: Analogous +NM_020533.3:c.378C>G NP_065394.1:p.Tyr126Ter NC_000019.10:7526578:C:G p.(Tyr126Ter) NC_000019.10:7526578:C:G p.(Tyr126Ter) NC_000019.10:7526578:C:G Identity +NM_001164507.2:c.23989C>T NP_001157979.2:p.Arg7997Ter NC_000002.12:151501422:G:A p.(Arg7997Ter) NC_000002.12:151501422:G:A p.(Arg7997Ter) NC_000002.12:151501422:G:A Identity +NM_000165.5:c.440T>C NP_000156.1:p.Met147Thr NC_000006.12:121447286:T:C p.(Met147Thr) NC_000006.12:121447286:T:C p.(Met147Thr) NC_000006.12:121447286:T:C Identity +NM_020732.3:c.1612C>T NP_065783.3:p.Gln538Ter NC_000006.12:156829295:C:T ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_001042781.3:c.689G>A NP_001036246.1:p.Arg230Lys NC_000011.10:1936975:G:A p.(Arg230Lys) NC_000011.10:1936975:G:A p.(Arg230Lys) NC_000011.10:1936975:G:A Identity +NM_001174063.2:c.2056G>C NP_001167534.1:p.Val686Leu NC_000008.11:38414275:C:G p.(Val686Leu) NC_000008.11:38414275:C:G p.(Val686Leu) NC_000008.11:38414275:C:G Identity +NM_001367624.2:c.1609G>A NP_001354553.1:p.Val537Met NC_000016.10:88429078:G:A p.(Val537Met) NC_000016.10:88429078:G:A p.(Val537Met) NC_000016.10:88429078:G:A Identity +NM_000527.5:c.1222G>C NP_000518.1:p.Glu408Gln NC_000019.10:11113312:G:C p.(Glu408Gln) NC_000019.10:11113312:G:C p.(Glu408Gln) NC_000019.10:11113312:G:C Identity +NM_001142463.3:c.1174A>G NP_001135935.1:p.Met392Val NC_000023.11:154774619:A:G p.(Met392Val) NC_000023.11:154774619:A:G p.(Met392Val) NC_000023.11:154774619:A:G Identity +NM_000109.4:c.3341_3342dup NP_000100.3:p.Phe1115fs NC_000023.11:32463504:CTCT:CTCTCT p.(Phe1115SerfsTer31) NC_000023.11:32463504:CTCT:CTCTCT p.(Phe1115SerfsTer31) ERR:SPDI Analogous +NM_000255.4:c.284C>T NP_000246.2:p.Pro95Leu NC_000006.12:49459182:G:A p.(Pro95Leu) NC_000006.12:49459182:G:A p.(Pro95Leu) NC_000006.12:49459182:G:A Identity +NM_001350505.2:c.407T>C NP_001337434.1:p.Val136Ala NC_000006.12:87548634:A:G p.(Val136Ala) NC_000006.12:87548634:A:G p.(Val136Ala) NC_000006.12:87548634:A:G Identity +NM_001080522.2:c.3076A>G NP_001073991.2:p.Lys1026Glu NC_000004.12:15563415:A:G p.(Lys1026Glu) NC_000004.12:15563415:A:G p.(Lys1026Glu) NC_000004.12:15563415:A:G Identity +NM_001042544.1:c.4078G>A NP_001036009.1:p.Val1360Met NC_000019.10:40625900:G:A p.(Val1360Met) NC_000019.10:40625900:G:A p.(Val1360Met) NC_000019.10:40625900:G:A Identity +NM_000350.3:c.2096C>A NP_000341.2:p.Thr699Asn NC_000001.11:94060600:G:T p.(Thr699Asn) NC_000001.11:94060600:G:T p.(Thr699Asn) NC_000001.11:94060600:G:T Identity +NM_001281737.2:c.1225C>T NP_001268666.1:p.Pro409Ser NC_000004.12:158706268:C:T p.(Pro409Ser) NC_000004.12:158706268:C:T p.(Pro409Ser) NC_000004.12:158706268:C:T Identity +NM_001363729.2:c.27del NP_001350658.1:p.Ser10fs NC_000020.11:36951616:GGG:GG p.(Ser10ProfsTer56) NC_000020.11:36951616:GGG:GG p.(Ser10ProfsTer56) NC_000020.11:36951616:G: Analogous +NM_005943.6:c.55G>A NP_005934.2:p.Gly19Ser NC_000006.12:39927523:C:T p.(Gly19Ser) NC_000006.12:39927523:C:T p.(Gly19Ser) NC_000006.12:39927523:C:T Identity +NM_001005242.3:c.2357C>A NP_001005242.2:p.Ala786Asp NC_000012.12:32796108:G:T p.(Ala786Asp) NC_000012.12:32796108:G:T p.(Ala786Asp) NC_000012.12:32796108:G:T Identity +NM_198578.4:c.5647T>C NP_940980.4:p.Phe1883Leu NC_000012.12:40323296:T:C p.(Phe1883Leu) NC_000012.12:40323296:T:C p.(Phe1883Leu) NC_000012.12:40323296:T:C Identity +NM_004370.6:c.1281del NP_004361.3:p.Gln428fs NC_000006.12:75183860:AA:A p.(Gln428LysfsTer10) NC_000006.12:75183860:AA:A p.(Gln428LysfsTer10) NC_000006.12:75183860:A: Analogous +NM_000068.4:c.574C>T NP_000059.3:p.Arg192Trp NC_000019.10:13371744:G:A p.(Arg192Trp) NC_000019.10:13371744:G:A p.(Arg192Trp) NC_000019.10:13371744:G:A Identity +NM_000540.3:c.12532G>A NP_000531.2:p.Gly4178Ser NC_000019.10:38561361:G:A p.(Gly4178Ser) NC_000019.10:38561361:G:A p.(Gly4178Ser) NC_000019.10:38561361:G:A Identity +NM_000083.3:c.2635C>T NP_000074.3:p.Gln879Ter NC_000007.14:143351632:C:T p.(Gln879Ter) NC_000007.14:143351632:C:T p.(Gln879Ter) NC_000007.14:143351632:C:T Identity +NM_053025.4:c.119G>A NP_444253.3:p.Arg40Gln NC_000003.12:123793722:C:T p.(Arg40Gln) NC_000003.12:123793722:C:T p.(Arg40Gln) NC_000003.12:123793722:C:T Identity +LRG_1247t1:c.1322G>A LRG_1247p1:p.Trp441Ter NC_000007.14:4787643:G:A ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found +NM_020732.3:c.17G>A NP_065783.3:p.Gly6Asp NC_000006.12:156777945:G:A ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_001197104.2:c.2318dup NP_001184033.1:p.Ser774fs NC_000011.10:118473470:CCCCCCC:CCCCCCCC p.(Ser774ValfsTer12) NC_000011.10:118473470:CCCCCCC:CCCCCCCC p.(Ser774ValfsTer12) ERR:SPDI Analogous +NM_000435.3:c.2182C>T NP_000426.2:p.Arg728Cys NC_000019.10:15185370:G:A p.(Arg728Cys) NC_000019.10:15185370:G:A p.(Arg728Cys) NC_000019.10:15185370:G:A Identity +NM_001001396.3:c.2548G>A NP_001001396.1:p.Val850Ile NC_000001.11:203720689:G:A p.(Val850Ile) NC_000001.11:203720689:G:A p.(Val850Ile) NC_000001.11:203720689:G:A Identity +NM_004990.4:c.2363C>T NP_004981.2:p.Thr788Ile NC_000012.12:57515307:C:T p.(Thr788Ile) NC_000012.12:57515307:C:T p.(Thr788Ile) NC_000012.12:57515307:C:T Identity +NM_001141973.3:c.1330C>T NP_001135445.1:p.Arg444Ter NC_000001.11:16996261:G:A p.(Arg444Ter) NC_000001.11:16996261:G:A p.(Arg444Ter) NC_000001.11:16996261:G:A Identity +NM_001348729.2:c.4053G>A NP_001335658.1:p.Trp1351Ter NC_000002.12:8733446:C:T p.(Trp1351Ter) NC_000002.12:8733446:C:T p.(Trp1351Ter) NC_000002.12:8733446:C:T Identity +NM_000540.3:c.3095G>A NP_000531.2:p.Arg1032His NC_000019.10:38466314:G:A p.(Arg1032His) NC_000019.10:38466314:G:A p.(Arg1032His) NC_000019.10:38466314:G:A Identity +NM_000520.6:c.898_905del NP_000511.2:p.Phe300fs NC_000015.10:72349159:CTCATGAACTCAT:CTCAT p.(Phe300HisfsTer21) NC_000015.10:72349159:CTCATGAACTCAT:CTCAT p.(Phe300HisfsTer21) NC_000015.10:72349159:CTCATGAA: Analogous +NM_001272003.2:c.2704A>G NP_001258932.1:p.Lys902Glu NC_000009.12:135779467:A:G p.(Lys902Glu) NC_000009.12:135779467:A:G p.(Lys902Glu) NC_000009.12:135779467:A:G Identity +NM_001363725.2:c.1315del NP_001350654.1:p.Leu439fs NC_000006.12:157184328:CC:C p.(Leu439CysfsTer62) NC_000006.12:157184328:CC:C p.(Leu439CysfsTer62) NC_000006.12:157184329:C: Analogous +NM_001134673.4:c.905del NP_001128145.1:p.Gly302fs NC_000001.11:61359231:GG:G p.(Gly302GlufsTer22) NC_000001.11:61359231:GG:G p.(Gly302GlufsTer22) NC_000001.11:61359232:G: Analogous +NM_001270942.1:c.588G>A NP_001257871.1:p.Ala196= NC_000002.12:207088524:C:T p.(Ala196=) NC_000002.12:207088524:C:T p.(Ala196=) NC_000002.12:207088524:C:T Identity +NM_001177984.3:c.647T>G NP_001171455.1:p.Val216Gly NC_000012.12:51688789:T:G p.(Val216Gly) NC_000012.12:51688789:T:G p.(Val216Gly) NC_000012.12:51688789:T:G Identity +NM_000057.4:c.1544del NP_000048.1:p.Asn515fs NC_000015.10:90760908:AAAAAAAAA:AAAAAAAA p.(Asn515MetfsTer16) NC_000015.10:90760908:AAAAAAAAA:AAAAAAAA p.(Asn515MetfsTer16) NC_000015.10:90760916:A: Analogous +NM_001277961.3:c.1510A>G NP_001264890.1:p.Thr504Ala NC_000011.10:4086511:A:G p.(Thr504Ala) NC_000011.10:4086511:A:G p.(Thr504Ala) NC_000011.10:4086511:A:G Identity +NM_005215.4:c.1790G>C NP_005206.2:p.Arg597Pro NC_000018.10:53207745:G:C p.(Arg597Pro) NC_000018.10:53207745:G:C p.(Arg597Pro) NC_000018.10:53207745:G:C Identity +NM_004119.3:c.2505T>A NP_004110.2:p.Asp835Glu NC_000013.11:28018502:A:T p.(Asp835Glu) NC_000013.11:28018502:A:T p.(Asp835Glu) NC_000013.11:28018502:A:T Identity +NM_004958.4:c.7500T>G NP_004949.1:p.Ile2500Met NC_000001.11:11109317:A:C p.(Ile2500Met) NC_000001.11:11109317:A:C p.(Ile2500Met) NC_000001.11:11109317:A:C Identity +NM_014165.4:c.40C>A NP_054884.1:p.Leu14Ile NC_000006.12:96897761:G:T p.(Leu14Ile) NC_000006.12:96897761:G:T p.(Leu14Ile) NC_000006.12:96897761:G:T Identity +LRG_1235t1:c.933C>A LRG_1235p1:p.Tyr311Ter NC_000002.12:162288296:G:T ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found +NM_018714.3:c.153G>A NP_061184.1:p.Met51Ile NC_000017.11:73193221:G:A p.(Met51Ile) NC_000017.11:73193221:G:A p.(Met51Ile) NC_000017.11:73193221:G:A Identity +NM_001130823.3:c.2914G>A NP_001124295.1:p.Val972Met NC_000019.10:10143967:C:T p.(Val972Met) NC_000019.10:10143967:C:T p.(Val972Met) NC_000019.10:10143967:C:T Identity +NM_001384474.1:c.176C>T NP_001371403.1:p.Thr59Met NC_000018.10:46649223:G:A p.(Thr59Met) NC_000018.10:46649223:G:A p.(Thr59Met) NC_000018.10:46649223:G:A Identity +NM_001350253.1:c.619C>A NP_001337182.1:p.His207Asn NC_000014.9:60979362:G:T p.(His207Asn) NC_000014.9:60979362:G:T p.(His207Asn) NC_000014.9:60979362:G:T Identity +NM_000920.4:c.3429G>T NP_000911.2:p.Met1143Ile NC_000011.10:66849006:C:A p.(Met1143Ile) NC_000011.10:66849006:C:A p.(Met1143Ile) NC_000011.10:66849006:C:A Identity +NM_000048.4:c.1345G>A NP_000039.2:p.Asp449Asn NC_000007.14:66092861:G:A p.(Asp449Asn) NC_000007.14:66092861:G:A p.(Asp449Asn) NC_000007.14:66092861:G:A Identity +NM_001318066.2:c.578C>T NP_001304995.1:p.Pro193Leu NC_000004.12:118815545:G:A p.(Pro193Leu) NC_000004.12:118815545:G:A p.(Pro193Leu) NC_000004.12:118815545:G:A Identity +NM_004104.5:c.1468C>T NP_004095.4:p.Arg490Cys NC_000017.11:82091245:G:A p.(Arg490Cys) NC_000017.11:82091245:G:A p.(Arg490Cys) NC_000017.11:82091245:G:A Identity +LRG_402t1:c.1775G>T LRG_402p1:p.Gly592Val NC_000001.11:237491871:G:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000444.6:c.1736G>A NP_000435.3:p.Gly579Glu NC_000023.11:22219070:G:A p.(Gly579Glu) NC_000023.11:22219070:G:A p.(Gly579Glu) NC_000023.11:22219070:G:A Identity +NM_153252.5:c.4757G>A NP_694984.5:p.Gly1586Glu NC_000023.11:80677260:C:T p.(Gly1586Glu) NC_000023.11:80677260:C:T p.(Gly1586Glu) NC_000023.11:80677260:C:T Identity +NM_000088.4:c.4339G>A NP_000079.2:p.Val1447Ile NC_000017.11:50185557:C:T p.(Val1447Ile) NC_000017.11:50185557:C:T p.(Val1447Ile) NC_000017.11:50185557:C:T Identity +NM_001270399.2:c.17C>G NP_001257328.1:p.Ser6Cys NC_000012.12:49186819:G:C p.(Ser6Cys) NC_000012.12:49186819:G:C p.(Ser6Cys) NC_000012.12:49186819:G:C Identity +NM_001081640.2:c.4435G>C NP_001075109.1:p.Val1479Leu NC_000008.11:47887683:C:G p.(Val1479Leu) NC_000008.11:47887683:C:G p.(Val1479Leu) NC_000008.11:47887683:C:G Identity +NM_001311168.2:c.1A>G NP_001298097.1:p.Met1Val NC_000008.11:124539186:A:G p.(Met1Val) NC_000008.11:124539186:A:G p.Met1? NC_000008.11:124539186:A:G Identity +NM_001033053.3:c.160G>A NP_001028225.1:p.Ala54Thr NC_000017.11:5583797:C:T p.(Ala54Thr) NC_000017.11:5583797:C:T p.(Ala54Thr) NC_000017.11:5583797:C:T Identity +NM_001372076.1:c.59C>T NP_001359005.1:p.Pro20Leu NC_000014.9:36662950:C:T p.(Pro20Leu) NC_000014.9:36662950:C:T p.(Pro20Leu) NC_000014.9:36662950:C:T Identity +NM_001005463.3:c.422A>G NP_001005463.1:p.Tyr141Cys NC_000010.11:129958996:T:C p.(Tyr141Cys) NC_000010.11:129958996:T:C p.(Tyr141Cys) NC_000010.11:129958996:T:C Identity +NM_000527.5:c.2125A>G NP_000518.1:p.Arg709Gly NC_000019.10:11120506:A:G p.(Arg709Gly) NC_000019.10:11120506:A:G p.(Arg709Gly) NC_000019.10:11120506:A:G Identity +NM_000059.4:c.4354C>T NP_000050.3:p.Gln1452Ter NC_000013.11:32338708:C:T p.(Gln1452Ter) NC_000013.11:32338708:C:T p.(Gln1452Ter) NC_000013.11:32338708:C:T Identity +NM_005249.5:c.460G>T NP_005240.3:p.Glu154Ter NC_000014.9:28767738:G:T p.(Glu154Ter) NC_000014.9:28767738:G:T p.(Glu154Ter) NC_000014.9:28767738:G:T Identity +NM_001079855.2:c.716C>T NP_001073324.1:p.Ala239Val NC_000023.11:2859943:C:T p.(Ala239Val) NC_000023.11:2859943:C:T p.(Ala239Val) NC_000023.11:2859943:C:T Identity +NM_001272073.2:c.1393G>A NP_001259002.1:p.Val465Ile NC_000003.12:49099609:C:T p.(Val465Ile) NC_000003.12:49099609:C:T p.(Val465Ile) NC_000003.12:49099609:C:T Identity +NM_021957.4:c.520T>C NP_068776.2:p.Tyr174His NC_000012.12:21574301:A:G p.(Tyr174His) NC_000012.12:21574301:A:G p.(Tyr174His) NC_000012.12:21574301:A:G Identity +NM_001164730.2:c.504A>G NP_001158202.1:p.Gly168= NC_000002.12:86232736:T:C p.(Gly168=) NC_000002.12:86232736:T:C p.(Gly168=) NC_000002.12:86232736:T:C Identity +NM_001193465.2:c.2752G>A NP_001180394.1:p.Ala918Thr NC_000017.11:46033161:C:T p.(Ala918Thr) NC_000017.11:46033161:C:T p.(Ala918Thr) NC_000017.11:46033161:C:T Identity +NM_001291285.3:c.739C>A NP_001278214.1:p.Pro247Thr NC_000004.12:125317149:C:A p.(Pro247Thr) NC_000004.12:125317149:C:A p.(Pro247Thr) NC_000004.12:125317149:C:A Identity +NM_001291285.3:c.8482G>A NP_001278214.1:p.Asp2828Asn NC_000004.12:125449491:G:A p.(Asp2828Asn) NC_000004.12:125449491:G:A p.(Asp2828Asn) NC_000004.12:125449491:G:A Identity +NM_001001412.4:c.461G>A NP_001001412.3:p.Arg154His NC_000010.11:103458290:C:T p.(Arg154His) NC_000010.11:103458290:C:T p.(Arg154His) NC_000010.11:103458290:C:T Identity +NM_000026.4:c.20A>G NP_000017.1:p.His7Arg NC_000022.11:40346577:A:G p.(His7Arg) NC_000022.11:40346577:A:G p.(His7Arg) NC_000022.11:40346577:A:G Identity +NM_000031.6:c.269G>A NP_000022.3:p.Arg90Gln NC_000009.12:113390925:C:T p.(Arg90Gln) NC_000009.12:113390925:C:T p.(Arg90Gln) NC_000009.12:113390925:C:T Identity +NM_000391.4:c.1058C>A NP_000382.3:p.Thr353Asn NC_000011.10:6616331:G:T p.(Thr353Asn) NC_000011.10:6616331:G:T p.(Thr353Asn) NC_000011.10:6616331:G:T Identity +NM_000540.3:c.8463G>A NP_000531.2:p.Trp2821Ter NC_000019.10:38505867:G:A p.(Trp2821Ter) NC_000019.10:38505867:G:A p.(Trp2821Ter) NC_000019.10:38505867:G:A Identity +NM_001376262.1:c.551T>G NP_001363191.1:p.Leu184Arg NC_000011.10:64713148:A:C p.(Leu184Arg) NC_000011.10:64713148:A:C p.(Leu184Arg) NC_000011.10:64713148:A:C Identity +NM_005502.4:c.2803A>G NP_005493.2:p.Asn935Asp NC_000009.12:104822520:T:C p.(Asn935Asp) NC_000009.12:104822520:T:C p.(Asn935Asp) NC_000009.12:104822520:T:C Identity +NM_001242581.2:c.1789G>A NP_001229510.1:p.Val597Met NC_000020.11:19975666:G:A p.(Val597Met) NC_000020.11:19975666:G:A p.(Val597Met) NC_000020.11:19975666:G:A Identity +NM_000540.3:c.4931A>G NP_000531.2:p.Asn1644Ser NC_000019.10:38483512:A:G p.(Asn1644Ser) NC_000019.10:38483512:A:G p.(Asn1644Ser) NC_000019.10:38483512:A:G Identity +NM_000443.4:c.217C>G NP_000434.1:p.Leu73Val NC_000007.14:87462826:G:C p.(Leu73Val) NC_000007.14:87462826:G:C p.(Leu73Val) NC_000007.14:87462826:G:C Identity +NM_002755.4:c.167A>C NP_002746.1:p.Gln56Pro NC_000015.10:66435112:A:C p.(Gln56Pro) NC_000015.10:66435112:A:C p.(Gln56Pro) NC_000015.10:66435112:A:C Identity +NM_000222.3:c.1965T>G NP_000213.1:p.Asn655Lys NC_000004.12:54728095:T:G p.(Asn655Lys) NC_000004.12:54728095:T:G p.(Asn655Lys) NC_000004.12:54728095:T:G Identity +NM_001242466.2:c.292C>T NP_001229395.1:p.Arg98Ter NC_000005.10:68293789:C:T p.(Arg98Ter) NC_000005.10:68293789:C:T p.(Arg98Ter) NC_000005.10:68293789:C:T Identity +NM_000098.3:c.921G>A NP_000089.1:p.Met307Ile NC_000001.11:53210594:G:A p.(Met307Ile) NC_000001.11:53210594:G:A p.(Met307Ile) NC_000001.11:53210594:G:A Identity +NM_001329556.3:c.404T>C NP_001316485.1:p.Leu135Pro NC_000019.10:1496339:T:C p.(Leu135Pro) NC_000019.10:1496339:T:C p.(Leu135Pro) NC_000019.10:1496339:T:C Identity +NM_001355016.2:c.1507A>G NP_001341945.1:p.Lys503Glu NC_000005.10:150125552:T:C p.(Lys503Glu) NC_000005.10:150125552:T:C p.(Lys503Glu) NC_000005.10:150125552:T:C Identity +NM_001277961.3:c.221T>C NP_001264890.1:p.Leu74Pro NC_000011.10:3967632:T:C p.(Leu74Pro) NC_000011.10:3967632:T:C p.(Leu74Pro) NC_000011.10:3967632:T:C Identity +NM_000527.5:c.2482dup NP_000518.1:p.Tyr828fs NC_000019.10:11129604:T:TT p.(Tyr828LeufsTer8) NC_000019.10:11129604:T:TT p.(Tyr828LeufsTer8) ERR:SPDI Analogous +NM_001282386.1:c.395G>T NP_001269315.1:p.Arg132Leu NC_000002.12:208248387:C:A p.(Arg132Leu) NC_000002.12:208248387:C:A p.(Arg132Leu) NC_000002.12:208248387:C:A Identity +NM_006218.4:c.1637A>C NP_006209.2:p.Gln546Pro NC_000003.12:179218306:A:C p.(Gln546Pro) NC_000003.12:179218306:A:C p.(Gln546Pro) NC_000003.12:179218306:A:C Identity +NM_001242466.2:c.638_640del NP_001229395.1:p.Thr213del NC_000005.10:68295303:GACGA:GA p.(Thr213del) NC_000005.10:68295303:GACGA:GA p.(Thr213del) NC_000005.10:68295305:CGA: Identity +NM_001346897.2:c.731C>A NP_001333826.1:p.Ala244Asp NC_000007.14:55154128:C:A p.(Ala244Asp) NC_000007.14:55154128:C:A p.(Ala244Asp) NC_000007.14:55154128:C:A Identity +NM_001354689.3:c.770C>G NP_001341618.1:p.Ser257Trp NC_000003.12:12604199:G:C p.(Ser257Trp) NC_000003.12:12604199:G:C p.(Ser257Trp) NC_000003.12:12604199:G:C Identity +NM_000546.6:c.833C>A NP_000537.3:p.Pro278His NC_000017.11:7673786:G:T p.(Pro278His) NC_000017.11:7673786:G:T p.(Pro278His) NC_000017.11:7673786:G:T Identity +NM_025114.4:c.523C>A NP_079390.3:p.Gln175Lys NC_000012.12:88130413:G:T p.(Gln175Lys) NC_000012.12:88130413:G:T p.(Gln175Lys) NC_000012.12:88130413:G:T Identity +NM_000476.3:c.484G>A NP_000467.1:p.Ala162Thr NC_000009.12:127868352:C:T p.(Ala162Thr) NC_000009.12:127868352:C:T p.(Ala162Thr) NC_000009.12:127868352:C:T Identity +NM_001037343.2:c.2107C>G NP_001032420.1:p.Leu703Val NC_000023.11:18609524:C:G p.(Leu703Val) NC_000023.11:18609524:C:G p.(Leu703Val) NC_000023.11:18609524:C:G Identity +NM_000314.8:c.477G>T NP_000305.3:p.Arg159Ser NC_000010.11:87933235:G:T p.(Arg159Ser) NC_000010.11:87933235:G:T p.(Arg159Ser) NC_000010.11:87933235:G:T Identity +NM_000314.8:c.518G>A NP_000305.3:p.Arg173His NC_000010.11:87952142:G:A p.(Arg173His) NC_000010.11:87952142:G:A p.(Arg173His) NC_000010.11:87952142:G:A Identity +LRG_344t2:c.64C>A LRG_344p2:p.Gln22Lys NC_000012.12:25245320:G:T ERR:Data provider error: ValueError: Transcript LRG_344t2 not found ERR:Data provider error: ValueError: Transcript LRG_344t2 not found ERR:AlignmentMapper(tx_ac=LRG_344t2, alt_ac=LRG_344t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_344t2, alt_ac=LRG_344t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_344t2 not found +LRG_1141t1:c.1514G>A LRG_1141p1:p.Arg505His NC_000004.12:152326135:C:T ERR:Data provider error: ValueError: Transcript LRG_1141t1 not found ERR:Data provider error: ValueError: Transcript LRG_1141t1 not found ERR:AlignmentMapper(tx_ac=LRG_1141t1, alt_ac=LRG_1141t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1141t1, alt_ac=LRG_1141t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1141t1 not found +NM_000546.6:c.638G>T NP_000537.3:p.Arg213Leu NC_000017.11:7674892:C:A p.(Arg213Leu) NC_000017.11:7674892:C:A p.(Arg213Leu) NC_000017.11:7674892:C:A Identity +NM_201269.3:c.3295C>T NP_958357.1:p.Arg1099Cys NC_000001.11:90937877:G:A p.(Arg1099Cys) NC_000001.11:90937877:G:A p.(Arg1099Cys) NC_000001.11:90937877:G:A Identity +NM_001042494.2:c.1437T>G NP_001035959.1:p.Phe479Leu NC_000015.10:34250332:A:C p.(Phe479Leu) NC_000015.10:34250332:A:C p.(Phe479Leu) NC_000015.10:34250332:A:C Identity +NM_001135.4:c.6019G>A NP_001126.3:p.Asp2007Asn NC_000015.10:88858603:G:A p.(Asp2007Asn) NC_000015.10:88858603:G:A p.(Asp2007Asn) NC_000015.10:88858603:G:A Identity +LRG_1122t1:c.263G>A LRG_1122p1:p.Ser88Asn NC_000009.12:136523856:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001330504.2:c.502C>G NP_001317433.1:p.Leu168Val NC_000016.10:5078850:C:G p.(Leu168Val) NC_000016.10:5078850:C:G p.(Leu168Val) NC_000016.10:5078850:C:G Identity +NM_001040142.2:c.2044A>G NP_001035232.1:p.Lys682Glu NC_000002.12:165326878:A:G p.(Lys682Glu) NC_000002.12:165326878:A:G p.(Lys682Glu) NC_000002.12:165326878:A:G Identity +NM_001267722.2:c.20G>C NP_001254651.1:p.Gly7Ala NC_000004.12:56467654:G:C p.(Gly7Ala) NC_000004.12:56467654:G:C p.(Gly7Ala) NC_000004.12:56467654:G:C Identity +NM_017909.4:c.140G>A NP_060379.2:p.Arg47His NC_000006.12:151445671:C:T p.(Arg47His) NC_000006.12:151445671:C:T p.(Arg47His) NC_000006.12:151445671:C:T Identity +NM_001128844.3:c.400G>T NP_001122316.1:p.Val134Phe NC_000019.10:10986232:G:T p.(Val134Phe) NC_000019.10:10986232:G:T p.(Val134Phe) NC_000019.10:10986232:G:T Identity +NM_000264.5:c.2437C>G NP_000255.2:p.Pro813Ala NC_000009.12:95467238:G:C p.(Pro813Ala) NC_000009.12:95467238:G:C p.(Pro813Ala) NC_000009.12:95467238:G:C Identity +NM_001174063.2:c.2146C>G NP_001167534.1:p.Arg716Gly NC_000008.11:38414185:G:C p.(Arg716Gly) NC_000008.11:38414185:G:C p.(Arg716Gly) NC_000008.11:38414185:G:C Identity +NM_001029896.2:c.944A>C NP_001025067.1:p.Asn315Thr NC_000023.11:49075164:T:G p.(Asn315Thr) NC_000023.11:49075164:T:G p.(Asn315Thr) NC_000023.11:49075164:T:G Identity +NM_000781.3:c.358C>T NP_000772.2:p.Arg120Ter NC_000015.10:74347966:G:A p.(Arg120Ter) NC_000015.10:74347966:G:A p.(Arg120Ter) NC_000015.10:74347966:G:A Identity +NM_000540.3:c.13190C>G NP_000531.2:p.Ala4397Gly NC_000019.10:38565523:C:G p.(Ala4397Gly) NC_000019.10:38565523:C:G p.(Ala4397Gly) NC_000019.10:38565523:C:G Identity +NM_000445.5:c.2723C>T NP_000436.2:p.Thr908Met NC_000008.11:143930032:G:A p.(Thr908Met) NC_000008.11:143930032:G:A p.(Thr908Met) NC_000008.11:143930032:G:A Identity +NM_001190458.2:c.4046C>T NP_001177387.1:p.Ser1349Leu NC_000009.12:428368:C:T p.(Ser1349Leu) NC_000009.12:428368:C:T p.(Ser1349Leu) NC_000009.12:428368:C:T Identity +NM_025114.4:c.6092C>A NP_079390.3:p.Ala2031Asp NC_000012.12:88068564:G:T p.(Ala2031Asp) NC_000012.12:88068564:G:T p.(Ala2031Asp) NC_000012.12:88068564:G:T Identity +NM_001605.3:c.1405G>A NP_001596.2:p.Ala469Thr NC_000016.10:70265044:C:T p.(Ala469Thr) NC_000016.10:70265044:C:T p.(Ala469Thr) NC_000016.10:70265044:C:T Identity +NM_001301076.3:c.227G>A NP_001288005.1:p.Arg76His NC_000019.10:46839552:C:T p.(Arg76His) NC_000019.10:46839552:C:T p.(Arg76His) NC_000019.10:46839552:C:T Identity +NM_001127178.3:c.158C>A NP_001120650.1:p.Ala53Asp NC_000004.12:500398:C:A p.(Ala53Asp) NC_000004.12:500398:C:A p.(Ala53Asp) NC_000004.12:500398:C:A Identity +NM_001178075.2:c.665T>C NP_001171546.1:p.Val222Ala NC_000007.14:97858900:A:G p.(Val222Ala) NC_000007.14:97858900:A:G p.(Val222Ala) NC_000007.14:97858900:A:G Identity +NM_001271937.2:c.158C>T NP_001258866.1:p.Pro53Leu NC_000006.12:151433175:G:A p.(Pro53Leu) NC_000006.12:151433175:G:A p.(Pro53Leu) NC_000006.12:151433175:G:A Identity +NM_001197104.2:c.10474G>A NP_001184033.1:p.Ala3492Thr NC_000011.10:118506365:G:A p.(Ala3492Thr) NC_000011.10:118506365:G:A p.(Ala3492Thr) NC_000011.10:118506365:G:A Identity +NM_001323011.3:c.245T>C NP_001309940.1:p.Val82Ala NC_000001.11:154929048:A:G p.(Val82Ala) NC_000001.11:154929048:A:G p.(Val82Ala) NC_000001.11:154929048:A:G Identity +NM_001135599.4:c.213C>A NP_001129071.1:p.Tyr71Ter NC_000001.11:218346913:C:A p.(Tyr71Ter) NC_000001.11:218346913:C:A p.(Tyr71Ter) NC_000001.11:218346913:C:A Identity +NM_001367624.2:c.751C>A NP_001354553.1:p.Pro251Thr NC_000016.10:88428220:C:A p.(Pro251Thr) NC_000016.10:88428220:C:A p.(Pro251Thr) NC_000016.10:88428220:C:A Identity +NM_001080414.4:c.4618G>C NP_001073883.2:p.Gly1540Arg NC_000014.9:91283340:C:G p.(Gly1540Arg) NC_000014.9:91283340:C:G p.(Gly1540Arg) NC_000014.9:91283340:C:G Identity +NM_001167734.2:c.166C>T NP_001161206.1:p.His56Tyr NC_000006.12:30914911:C:T p.(His56Tyr) NC_000006.12:30914911:C:T p.(His56Tyr) NC_000006.12:30914911:C:T Identity +NM_033071.5:c.887G>C NP_149062.2:p.Ser296Thr NC_000006.12:152502654:C:G p.(Ser296Thr) NC_000006.12:152502654:C:G p.(Ser296Thr) NC_000006.12:152502654:C:G Identity +NM_000111.3:c.357C>A NP_000102.1:p.Phe119Leu NC_000007.14:107791854:G:T p.(Phe119Leu) NC_000007.14:107791854:G:T p.(Phe119Leu) NC_000007.14:107791854:G:T Identity +NM_004586.3:c.204T>G NP_004577.1:p.Phe68Leu NC_000023.11:20209326:A:C p.(Phe68Leu) NC_000023.11:20209326:A:C p.(Phe68Leu) NC_000023.11:20209326:A:C Identity +NM_001244808.3:c.1486C>T NP_001231737.1:p.Arg496Ter NC_000003.12:70976981:G:A p.(Arg496Ter) NC_000003.12:70976981:G:A p.(Arg496Ter) NC_000003.12:70976981:G:A Identity +NM_014362.4:c.136A>G NP_055177.2:p.Thr46Ala NC_000002.12:190296895:T:C p.(Thr46Ala) NC_000002.12:190296895:T:C p.(Thr46Ala) NC_000002.12:190296895:T:C Identity +NM_001277061.2:c.19A>T NP_001263990.1:p.Ser7Cys NC_000002.12:227329763:A:T p.(Ser7Cys) NC_000002.12:227329763:A:T p.(Ser7Cys) NC_000002.12:227329763:A:T Identity +NM_000059.4:c.9619A>T NP_000050.3:p.Ile3207Phe NC_000013.11:32397014:A:T p.(Ile3207Phe) NC_000013.11:32397014:A:T p.(Ile3207Phe) NC_000013.11:32397014:A:T Identity +NM_000339.3:c.1196G>T NP_000330.3:p.Arg399Leu NC_000016.10:56879087:G:T p.(Arg399Leu) NC_000016.10:56879087:G:T p.(Arg399Leu) NC_000016.10:56879087:G:T Identity +NM_001193465.2:c.706T>A NP_001180394.1:p.Ser236Thr NC_000017.11:46171437:A:T p.(Ser236Thr) NC_000017.11:46171437:A:T p.(Ser236Thr) NC_000017.11:46171437:A:T Identity +NM_004525.3:c.12244G>T NP_004516.2:p.Glu4082Ter NC_000002.12:169154510:C:A p.(Glu4082Ter) NC_000002.12:169154510:C:A p.(Glu4082Ter) NC_000002.12:169154510:C:A Identity +NM_001291285.3:c.14180G>A NP_001278214.1:p.Arg4727Lys NC_000004.12:125490998:G:A p.(Arg4727Lys) NC_000004.12:125490998:G:A p.(Arg4727Lys) NC_000004.12:125490998:G:A Identity +NM_002437.5:c.191C>G NP_002428.1:p.Pro64Arg NC_000002.12:27312767:G:C p.(Pro64Arg) NC_000002.12:27312767:G:C p.(Pro64Arg) NC_000002.12:27312767:G:C Identity +NM_000109.4:c.487G>C NP_000100.3:p.Ala163Pro NC_000023.11:32816486:C:G p.(Ala163Pro) NC_000023.11:32816486:C:G p.(Ala163Pro) NC_000023.11:32816486:C:G Identity +NM_000147.5:c.1034G>A NP_000138.2:p.Gly345Glu NC_000001.11:23848774:C:T p.(Gly345Glu) NC_000001.11:23848774:C:T p.(Gly345Glu) NC_000001.11:23848774:C:T Identity +NM_001100.4:c.739G>C NP_001091.1:p.Gly247Arg NC_000001.11:229432062:C:G p.(Gly247Arg) NC_000001.11:229432062:C:G p.(Gly247Arg) NC_000001.11:229432062:C:G Identity +NM_003366.4:c.442C>A NP_003357.2:p.Arg148Ser NC_000016.10:21962812:C:A p.(Arg148Ser) NC_000016.10:21962812:C:A p.(Arg148Ser) NC_000016.10:21962812:C:A Identity +NM_001378120.1:c.913A>G NP_001365049.1:p.Thr305Ala NC_000002.12:148468855:A:G p.(Thr305Ala) NC_000002.12:148468855:A:G p.(Thr305Ala) NC_000002.12:148468855:A:G Identity +NM_001135599.4:c.1224C>G NP_001129071.1:p.Cys408Trp NC_000001.11:218441256:C:G p.(Cys408Trp) NC_000001.11:218441256:C:G p.(Cys408Trp) NC_000001.11:218441256:C:G Identity +NM_001127493.3:c.5098C>T NP_001120965.1:p.Pro1700Ser NC_000004.12:113369574:C:T p.(Pro1700Ser) NC_000004.12:113369574:C:T p.(Pro1700Ser) NC_000004.12:113369574:C:T Identity +NM_000490.5:c.329G>A NP_000481.2:p.Cys110Tyr NC_000020.11:3082795:C:T p.(Cys110Tyr) NC_000020.11:3082795:C:T p.(Cys110Tyr) NC_000020.11:3082795:C:T Identity +NM_001174150.2:c.626G>A NP_001167621.1:p.Arg209His NC_000003.12:94036690:G:A p.(Arg209His) NC_000003.12:94036690:G:A p.(Arg209His) NC_000003.12:94036690:G:A Identity +NM_001127487.2:c.6076G>A NP_001120959.1:p.Val2026Met NC_000007.14:128852997:G:A p.(Val2026Met) NC_000007.14:128852997:G:A p.(Val2026Met) NC_000007.14:128852997:G:A Identity +NM_015681.6:c.493G>T NP_056496.1:p.Gly165Cys NC_000017.11:19343440:C:A p.(Gly165Cys) NC_000017.11:19343440:C:A p.(Gly165Cys) NC_000017.11:19343440:C:A Identity +NM_000939.4:c.616G>T NP_000930.1:p.Glu206Ter NC_000002.12:25161268:C:A p.(Glu206Ter) NC_000002.12:25161268:C:A p.(Glu206Ter) NC_000002.12:25161268:C:A Identity +NM_006267.5:c.6643C>G NP_006258.3:p.Pro2215Ala NC_000002.12:108767181:C:G p.(Pro2215Ala) NC_000002.12:108767181:C:G p.(Pro2215Ala) NC_000002.12:108767181:C:G Identity +NM_001079846.1:c.458C>T NP_001073315.1:p.Pro153Leu NC_000016.10:3850636:G:A p.(Pro153Leu) NC_000016.10:3850636:G:A p.(Pro153Leu) NC_000016.10:3850636:G:A Identity +NM_000350.3:c.5659G>A NP_000341.2:p.Val1887Met NC_000001.11:94010854:C:T p.(Val1887Met) NC_000001.11:94010854:C:T p.(Val1887Met) NC_000001.11:94010854:C:T Identity +NM_001271.4:c.4874A>G NP_001262.3:p.Asn1625Ser NC_000015.10:93014876:A:G p.(Asn1625Ser) NC_000015.10:93014876:A:G p.(Asn1625Ser) NC_000015.10:93014876:A:G Identity +NM_000068.4:c.4674C>G NP_000059.3:p.Phe1558Leu NC_000019.10:13255187:G:C p.(Phe1558Leu) NC_000019.10:13255187:G:C p.(Phe1558Leu) NC_000019.10:13255187:G:C Identity +NM_001165963.4:c.3968C>A NP_001159435.1:p.Pro1323His NC_000002.12:166009752:G:T p.(Pro1323His) NC_000002.12:166009752:G:T p.(Pro1323His) NC_000002.12:166009752:G:T Identity +NM_020732.3:c.971G>C NP_065783.3:p.Gly324Ala NC_000006.12:156778899:G:C ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_025114.4:c.7219A>C NP_079390.3:p.Lys2407Gln NC_000012.12:88049404:T:G p.(Lys2407Gln) NC_000012.12:88049404:T:G p.(Lys2407Gln) NC_000012.12:88049404:T:G Identity +NM_000383.4:c.1370G>A NP_000374.1:p.Cys457Tyr NC_000021.9:44293879:G:A p.(Cys457Tyr) NC_000021.9:44293879:G:A p.(Cys457Tyr) NC_000021.9:44293879:G:A Identity +NM_001127493.3:c.2638T>G NP_001120965.1:p.Ser880Ala NC_000004.12:113317713:T:G p.(Ser880Ala) NC_000004.12:113317713:T:G p.(Ser880Ala) NC_000004.12:113317713:T:G Identity +NM_000248.4:c.637G>C NP_000239.1:p.Glu213Gln NC_000003.12:69956456:G:C p.(Glu213Gln) NC_000003.12:69956456:G:C p.(Glu213Gln) NC_000003.12:69956456:G:C Identity +NM_000016.6:c.261G>A NP_000007.1:p.Met87Ile NC_000001.11:75732896:G:A p.(Met87Ile) NC_000001.11:75732896:G:A p.(Met87Ile) NC_000001.11:75732896:G:A Identity +NM_000109.4:c.2834C>T NP_000100.3:p.Thr945Ile NC_000023.11:32472254:G:A p.(Thr945Ile) NC_000023.11:32472254:G:A p.(Thr945Ile) NC_000023.11:32472254:G:A Identity +NM_001330504.2:c.221T>G NP_001317433.1:p.Phe74Cys NC_000016.10:5077458:T:G p.(Phe74Cys) NC_000016.10:5077458:T:G p.(Phe74Cys) NC_000016.10:5077458:T:G Identity +NM_006420.3:c.2010G>A NP_006411.2:p.Met670Ile NC_000020.11:48984779:G:A p.(Met670Ile) NC_000020.11:48984779:G:A p.(Met670Ile) NC_000020.11:48984779:G:A Identity +NM_020987.5:c.10164C>G NP_066267.2:p.Asn3388Lys NC_000010.11:60070716:G:C p.(Asn3388Lys) NC_000010.11:60070716:G:C p.(Asn3388Lys) NC_000010.11:60070716:G:C Identity +NM_001377273.1:c.1501G>A NP_001364202.1:p.Gly501Ser NC_000012.12:21906242:C:T p.(Gly501Ser) NC_000012.12:21906242:C:T p.(Gly501Ser) NC_000012.12:21906242:C:T Identity +NM_000445.5:c.7720C>T NP_000436.2:p.Arg2574Trp NC_000008.11:143922181:G:A p.(Arg2574Trp) NC_000008.11:143922181:G:A p.(Arg2574Trp) NC_000008.11:143922181:G:A Identity +NM_001001344.3:c.3468C>G NP_001001344.1:p.Ile1156Met NC_000023.11:153580102:C:G p.(Ile1156Met) NC_000023.11:153580102:C:G p.(Ile1156Met) NC_000023.11:153580102:C:G Identity +NM_001032283.3:c.357T>G NP_001027454.1:p.Asp119Glu NC_000012.12:98527962:T:G p.(Asp119Glu) NC_000012.12:98527962:T:G p.(Asp119Glu) NC_000012.12:98527962:T:G Identity +NM_001128844.3:c.4558C>T NP_001122316.1:p.Arg1520Cys NC_000019.10:11058811:C:T p.(Arg1520Cys) NC_000019.10:11058811:C:T p.(Arg1520Cys) NC_000019.10:11058811:C:T Identity +NM_001173479.2:c.880A>C NP_001166950.1:p.Met294Leu NC_000023.11:63665902:T:G p.(Met294Leu) NC_000023.11:63665902:T:G p.(Met294Leu) NC_000023.11:63665902:T:G Identity +NM_001134830.2:c.3160C>G NP_001128302.1:p.Pro1054Ala NC_000006.12:135358136:G:C p.(Pro1054Ala) NC_000006.12:135358136:G:C p.(Pro1054Ala) NC_000006.12:135358136:G:C Identity +NM_001100.4:c.575T>C NP_001091.1:p.Met192Thr NC_000001.11:229432310:A:G p.(Met192Thr) NC_000001.11:229432310:A:G p.(Met192Thr) NC_000001.11:229432310:A:G Identity +NM_000052.7:c.1906C>T NP_000043.4:p.Arg636Trp NC_000023.11:78011211:C:T p.(Arg636Trp) NC_000023.11:78011211:C:T p.(Arg636Trp) NC_000023.11:78011211:C:T Identity +LRG_1212t1:c.3130A>T LRG_1212p1:p.Asn1044Tyr NC_000001.11:154586252:T:A ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_001321309.2:c.988A>G NP_001308238.1:p.Arg330Gly NC_000003.12:123732895:T:C p.(Arg330Gly) NC_000003.12:123732895:T:C p.(Arg330Gly) NC_000003.12:123732895:T:C Identity +NM_001127698.2:c.803G>A NP_001121170.1:p.Arg268His NC_000005.10:148095825:G:A p.(Arg268His) NC_000005.10:148095825:G:A p.(Arg268His) NC_000005.10:148095825:G:A Identity +NM_001378120.1:c.4591A>C NP_001365049.1:p.Ser1531Arg NC_000002.12:148490222:A:C p.(Ser1531Arg) NC_000002.12:148490222:A:C p.(Ser1531Arg) NC_000002.12:148490222:A:C Identity +NM_001272003.2:c.3560C>G NP_001258932.1:p.Ser1187Cys NC_000009.12:135792084:C:G p.(Ser1187Cys) NC_000009.12:135792084:C:G p.(Ser1187Cys) NC_000009.12:135792084:C:G Identity +NM_000388.4:c.1750A>T NP_000379.3:p.Lys584Ter NC_000003.12:122283703:A:T p.(Lys584Ter) NC_000003.12:122283703:A:T p.(Lys584Ter) NC_000003.12:122283703:A:T Identity +NM_000384.3:c.12016G>A NP_000375.3:p.Val4006Ile NC_000002.12:21004339:C:T p.(Val4006Ile) NC_000002.12:21004339:C:T p.(Val4006Ile) NC_000002.12:21004339:C:T Identity +NM_001130916.3:c.1229G>T NP_001124388.1:p.Arg410Leu NC_000009.12:99149252:G:T p.(Arg410Leu) NC_000009.12:99149252:G:T p.(Arg410Leu) NC_000009.12:99149252:G:T Identity +NM_001165415.2:c.745A>G NP_001158887.1:p.Ile249Val NC_000011.10:18407295:A:G p.(Ile249Val) NC_000011.10:18407295:A:G p.(Ile249Val) NC_000011.10:18407295:A:G Identity +NM_017780.4:c.4247C>G NP_060250.2:p.Thr1416Arg NC_000008.11:60837728:C:G p.(Thr1416Arg) NC_000008.11:60837728:C:G p.(Thr1416Arg) NC_000008.11:60837728:C:G Identity +NM_000143.4:c.1061G>A NP_000134.2:p.Gly354Glu NC_000001.11:241504088:C:T p.(Gly354Glu) NC_000001.11:241504088:C:T p.(Gly354Glu) NC_000001.11:241504088:C:T Identity +NM_025114.4:c.6145A>G NP_079390.3:p.Ile2049Val NC_000012.12:88064105:T:C p.(Ile2049Val) NC_000012.12:88064105:T:C p.(Ile2049Val) NC_000012.12:88064105:T:C Identity +NM_001164317.2:c.1534G>A NP_001157789.1:p.Ala512Thr NC_000003.12:58104008:G:A p.(Ala512Thr) NC_000003.12:58104008:G:A p.(Ala512Thr) NC_000003.12:58104008:G:A Identity +NM_001278531.2:c.1760C>T NP_001265460.1:p.Thr587Ile NC_000006.12:169781376:C:T p.(Thr587Ile) NC_000006.12:169781376:C:T p.(Thr587Ile) NC_000006.12:169781376:C:T Identity +NM_001164690.2:c.502G>A NP_001158162.1:p.Ala168Thr NC_000012.12:53425241:G:A p.(Ala168Thr) NC_000012.12:53425241:G:A p.(Ala168Thr) NC_000012.12:53425241:G:A Identity +NM_001164507.2:c.18653G>A NP_001157979.2:p.Gly6218Asp NC_000002.12:151563645:C:T p.(Gly6218Asp) NC_000002.12:151563645:C:T p.(Gly6218Asp) NC_000002.12:151563645:C:T Identity +NM_000393.5:c.905G>A NP_000384.2:p.Arg302Gln NC_000002.12:189080990:C:T p.(Arg302Gln) NC_000002.12:189080990:C:T p.(Arg302Gln) NC_000002.12:189080990:C:T Identity +NM_012414.4:c.2461T>C NP_036546.2:p.Trp821Arg NC_000001.11:220172004:A:G p.(Trp821Arg) NC_000001.11:220172004:A:G p.(Trp821Arg) NC_000001.11:220172004:A:G Identity +NM_001130455.2:c.1496G>T NP_001123927.1:p.Gly499Val NC_000002.12:71549361:G:T p.(Gly499Val) NC_000002.12:71549361:G:T p.(Gly499Val) NC_000002.12:71549361:G:T Identity +NM_001374747.1:c.1018G>A NP_001361676.1:p.Gly340Ser NC_000006.12:10621442:G:A p.(Gly340Ser) NC_000006.12:10621442:G:A p.(Gly340Ser) NC_000006.12:10621442:G:A Identity +NM_001271043.2:c.1112G>A NP_001257972.1:p.Arg371Gln NC_000019.10:13081688:G:A p.(Arg371Gln) NC_000019.10:13081688:G:A p.(Arg371Gln) NC_000019.10:13081688:G:A Identity +NM_001040142.2:c.4748T>C NP_001035232.1:p.Ile1583Thr NC_000002.12:165386941:T:C p.(Ile1583Thr) NC_000002.12:165386941:T:C p.(Ile1583Thr) NC_000002.12:165386941:T:C Identity +NM_020778.5:c.5027C>T NP_065829.4:p.Ala1676Val NC_000015.10:84868364:C:T p.(Ala1676Val) NC_000015.10:84868364:C:T p.(Ala1676Val) NC_000015.10:84868364:C:T Identity +NM_000018.4:c.1146G>C NP_000009.1:p.Lys382Asn NC_000017.11:7223200:G:C p.(Lys382Asn) NC_000017.11:7223200:G:C p.(Lys382Asn) NC_000017.11:7223200:G:C Identity +NM_003482.4:c.2868G>C NP_003473.3:p.Glu956Asp NC_000012.12:49050719:C:G p.(Glu956Asp) NC_000012.12:49050719:C:G p.(Glu956Asp) NC_000012.12:49050719:C:G Identity +NM_000702.4:c.2770G>A NP_000693.1:p.Val924Met NC_000001.11:160136960:G:A p.(Val924Met) NC_000001.11:160136960:G:A p.(Val924Met) NC_000001.11:160136960:G:A Identity +NM_020987.5:c.6895G>A NP_066267.2:p.Ala2299Thr NC_000010.11:60073985:C:T p.(Ala2299Thr) NC_000010.11:60073985:C:T p.(Ala2299Thr) NC_000010.11:60073985:C:T Identity +NM_014244.5:c.110C>T NP_055059.2:p.Ala37Val NC_000005.10:179345218:G:A p.(Ala37Val) NC_000005.10:179345218:G:A p.(Ala37Val) NC_000005.10:179345218:G:A Identity +NM_001126131.2:c.2733T>G NP_001119603.1:p.His911Gln NC_000015.10:89321125:A:C p.(His911Gln) NC_000015.10:89321125:A:C p.(His911Gln) NC_000015.10:89321125:A:C Identity +NM_001110556.2:c.4918G>A NP_001104026.1:p.Gly1640Arg NC_000023.11:154357460:C:T p.(Gly1640Arg) NC_000023.11:154357460:C:T p.(Gly1640Arg) NC_000023.11:154357460:C:T Identity +NM_020247.5:c.830T>C NP_064632.2:p.Leu277Pro NC_000001.11:226982125:T:C p.(Leu277Pro) NC_000001.11:226982125:T:C p.(Leu277Pro) NC_000001.11:226982125:T:C Identity +NM_006420.3:c.1289A>G NP_006411.2:p.Asn430Ser NC_000020.11:48971217:A:G p.(Asn430Ser) NC_000020.11:48971217:A:G p.(Asn430Ser) NC_000020.11:48971217:A:G Identity +NM_005045.4:c.6842C>G NP_005036.2:p.Pro2281Arg NC_000007.14:103540284:G:C p.(Pro2281Arg) NC_000007.14:103540284:G:C p.(Pro2281Arg) NC_000007.14:103540284:G:C Identity +NM_001005752.2:c.334C>A NP_001005752.1:p.Gln112Lys NC_000001.11:34785095:C:A p.(Gln112Lys) NC_000001.11:34785095:C:A p.(Gln112Lys) NC_000001.11:34785095:C:A Identity +NM_001130103.2:c.1990G>A NP_001123575.1:p.Gly664Ser NC_000010.11:69947306:G:A p.(Gly664Ser) NC_000010.11:69947306:G:A p.(Gly664Ser) NC_000010.11:69947306:G:A Identity +NM_000441.2:c.2206C>T NP_000432.1:p.Gln736Ter NC_000007.14:107710169:C:T p.(Gln736Ter) NC_000007.14:107710169:C:T p.(Gln736Ter) NC_000007.14:107710169:C:T Identity +NM_001256850.1:c.2573C>A NP_001243779.1:p.Ser858Ter NC_000002.12:178784271:G:T p.(Ser858Ter) NC_000002.12:178784271:G:T p.(Ser858Ter) NC_000002.12:178784271:G:T Identity +NM_000404.4:c.1696C>T NP_000395.3:p.Pro566Ser NC_000003.12:33014093:G:A p.(Pro566Ser) NC_000003.12:33014093:G:A p.(Pro566Ser) NC_000003.12:33014093:G:A Identity +LRG_1323t1:c.1016A>G LRG_1323p1:p.Lys339Arg NC_000002.12:46995149:A:G ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000068.4:c.3277G>T NP_000059.3:p.Gly1093Cys NC_000019.10:13286790:C:A p.(Gly1093Cys) NC_000019.10:13286790:C:A p.(Gly1093Cys) NC_000019.10:13286790:C:A Identity +NM_001352773.2:c.257G>A NP_001339702.1:p.Arg86Gln NC_000017.11:41769628:C:T p.(Arg86Gln) NC_000017.11:41769628:C:T p.(Arg86Gln) NC_000017.11:41769628:C:T Identity +NM_000296.4:c.1075C>G NP_000287.4:p.Leu359Val NC_000016.10:2117916:G:C p.(Leu359Val) NC_000016.10:2117916:G:C p.(Leu359Val) NC_000016.10:2117916:G:C Identity +NM_001868.4:c.657C>G NP_001859.1:p.Ile219Met NC_000007.14:130383754:C:G p.(Ile219Met) NC_000007.14:130383754:C:G p.(Ile219Met) NC_000007.14:130383754:C:G Identity +NM_001172509.2:c.1481A>T NP_001165980.1:p.Glu494Val NC_000002.12:199323863:T:A p.(Glu494Val) NC_000002.12:199323863:T:A p.(Glu494Val) NC_000002.12:199323863:T:A Identity +NM_003126.4:c.3357G>C NP_003117.2:p.Lys1119Asn NC_000001.11:158652484:C:G p.(Lys1119Asn) NC_000001.11:158652484:C:G p.(Lys1119Asn) NC_000001.11:158652484:C:G Identity +NM_001159699.2:c.792C>T NP_001153171.1:p.Tyr264= NC_000023.11:136209925:C:T p.(Tyr264=) NC_000023.11:136209925:C:T p.(Tyr264=) NC_000023.11:136209925:C:T Identity +NM_001083962.2:c.1907G>A NP_001077431.1:p.Cys636Tyr NC_000018.10:55228333:C:T p.(Cys636Tyr) NC_000018.10:55228333:C:T p.(Cys636Tyr) NC_000018.10:55228333:C:T Identity +NM_001110556.2:c.6854T>C NP_001104026.1:p.Phe2285Ser NC_000023.11:154351936:A:G p.(Phe2285Ser) NC_000023.11:154351936:A:G p.(Phe2285Ser) NC_000023.11:154351936:A:G Identity +NM_001193304.3:c.117_120del NP_001180233.1:p.Ile41fs NC_000002.12:96265261:AGACAG:AG p.(Ile41ArgfsTer39) NC_000002.12:96265261:AGACAG:AG p.(Ile41ArgfsTer39) NC_000002.12:96265261:AGAC: Analogous +NM_003482.4:c.4342T>A NP_003473.3:p.Cys1448Ser NC_000012.12:49046684:A:T p.(Cys1448Ser) NC_000012.12:49046684:A:T p.(Cys1448Ser) NC_000012.12:49046684:A:T Identity +LRG_386t1:c.3726G>T LRG_386p1:p.Lys1242Asn NC_000011.10:47332159:C:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001363711.2:c.2564C>T NP_001350640.1:p.Ser855Phe NC_000015.10:45104049:G:A p.(Ser855Phe) NC_000015.10:45104049:G:A p.(Ser855Phe) NC_000015.10:45104049:G:A Identity +NM_001330447.2:c.3325A>G NP_001317376.2:p.Ile1109Val NC_000017.11:67128715:T:C p.(Ile1109Val) NC_000017.11:67128715:T:C p.(Ile1109Val) NC_000017.11:67128715:T:C Identity +NM_000751.3:c.1374_1375del NP_000742.1:p.Lys459fs NC_000002.12:232535129:GAGA:GA p.(Lys459ArgfsTer113) NC_000002.12:232535129:GAGA:GA p.(Lys459ArgfsTer113) NC_000002.12:232535131:GA: Analogous +NM_024675.4:c.3311del NP_078951.2:p.Gly1104fs NC_000016.10:23607902:CCC:CC p.(Gly1104ValfsTer2) NC_000016.10:23607902:CCC:CC p.(Gly1104ValfsTer2) NC_000016.10:23607902:C: Analogous +NM_021948.5:c.313C>G NP_068767.3:p.Arg105Gly NC_000001.11:156647021:C:G p.(Arg105Gly) NC_000001.11:156647021:C:G p.(Arg105Gly) NC_000001.11:156647021:C:G Identity +NM_018718.3:c.851G>A NP_061188.1:p.Arg284Gln NC_000007.14:130400160:C:T p.(Arg284Gln) NC_000007.14:130400160:C:T p.(Arg284Gln) NC_000007.14:130400160:C:T Identity +NM_001145102.2:c.641A>G NP_001138574.1:p.Asn214Ser NC_000015.10:67184810:A:G p.(Asn214Ser) NC_000015.10:67184810:A:G p.(Asn214Ser) NC_000015.10:67184810:A:G Identity +NM_001370.2:c.7649T>C NP_001361.1:p.Val2550Ala NC_000002.12:84697698:T:C p.(Val2550Ala) NC_000002.12:84697698:T:C p.(Val2550Ala) NC_000002.12:84697698:T:C Identity +NM_002003.5:c.802T>C NP_001994.2:p.Ser268Pro NC_000009.12:134909976:A:G p.(Ser268Pro) NC_000009.12:134909976:A:G p.(Ser268Pro) NC_000009.12:134909976:A:G Identity +NM_001286205.2:c.527G>A NP_001273134.1:p.Arg176Gln NC_000016.10:90037250:G:A p.(Arg176Gln) NC_000016.10:90037250:G:A p.(Arg176Gln) NC_000016.10:90037250:G:A Identity +NM_005472.5:c.2T>C NP_005463.1:p.Met1Thr NC_000011.10:74457561:A:G p.(Met1Thr) NC_000011.10:74457561:A:G p.Met1? NC_000011.10:74457561:A:G Identity +NM_006147.4:c.113T>C NP_006138.1:p.Ile38Thr NC_000001.11:209801300:A:G p.(Ile38Thr) NC_000001.11:209801300:A:G p.(Ile38Thr) NC_000001.11:209801300:A:G Identity +NM_001384609.1:c.2515G>C NP_001371538.1:p.Glu839Gln NC_000013.11:87677902:G:C p.(Glu839Gln) NC_000013.11:87677902:G:C p.(Glu839Gln) NC_000013.11:87677902:G:C Identity +NM_030632.3:c.3136G>A NP_085135.1:p.Gly1046Arg NC_000018.10:33742983:G:A p.(Gly1046Arg) NC_000018.10:33742983:G:A p.(Gly1046Arg) NC_000018.10:33742983:G:A Identity +NM_000260.4:c.6487G>A NP_000251.3:p.Gly2163Ser NC_000011.10:77213907:G:A p.(Gly2163Ser) NC_000011.10:77213907:G:A p.(Gly2163Ser) NC_000011.10:77213907:G:A Identity +NM_024675.4:c.2473A>G NP_078951.2:p.Arg825Gly NC_000016.10:23629680:T:C p.(Arg825Gly) NC_000016.10:23629680:T:C p.(Arg825Gly) NC_000016.10:23629680:T:C Identity +NM_020457.3:c.240C>G NP_065190.2:p.Phe80Leu NC_000016.10:67842793:C:G p.(Phe80Leu) NC_000016.10:67842793:C:G p.(Phe80Leu) NC_000016.10:67842793:C:G Identity +NM_003140.3:c.227G>T NP_003131.1:p.Arg76Leu NC_000024.10:2787376:C:A p.(Arg76Leu) NC_000024.10:2787376:C:A p.(Arg76Leu) NC_000024.10:2787376:C:A Identity +NM_000208.4:c.3160G>A NP_000199.2:p.Val1054Met NC_000019.10:7125380:C:T p.(Val1054Met) NC_000019.10:7125380:C:T p.(Val1054Met) NC_000019.10:7125380:C:T Identity +NM_024312.5:c.3575T>C NP_077288.2:p.Phe1192Ser NC_000012.12:101753398:A:G p.(Phe1192Ser) NC_000012.12:101753398:A:G p.(Phe1192Ser) NC_000012.12:101753398:A:G Identity +NM_005173.4:c.2020C>T NP_005164.2:p.Arg674Cys NC_000017.11:3941050:G:A p.(Arg674Cys) NC_000017.11:3941050:G:A p.(Arg674Cys) NC_000017.11:3941050:G:A Identity +NM_001372106.1:c.5525C>T NP_001359035.1:p.Thr1842Met NC_000012.12:123845763:C:T p.(Thr1842Met) NC_000012.12:123845763:C:T p.(Thr1842Met) NC_000012.12:123845763:C:T Identity +NM_001366028.2:c.5179T>C NP_001352957.1:p.Tyr1727His NC_000003.12:57428706:A:G p.(Tyr1727His) NC_000003.12:57428706:A:G p.(Tyr1727His) NC_000003.12:57428706:A:G Identity +NM_001378454.1:c.11611A>T NP_001365383.1:p.Asn3871Tyr NC_000002.12:73599463:A:T p.(Asn3871Tyr) NC_000002.12:73599463:A:T p.(Asn3871Tyr) NC_000002.12:73599463:A:T Identity +NM_173560.4:c.2561C>T NP_775831.2:p.Ser854Leu NC_000006.12:116928920:C:T p.(Ser854Leu) NC_000006.12:116928920:C:T p.(Ser854Leu) NC_000006.12:116928920:C:T Identity +NM_000527.5:c.383G>C NP_000518.1:p.Cys128Ser NC_000019.10:11105288:G:C p.(Cys128Ser) NC_000019.10:11105288:G:C p.(Cys128Ser) NC_000019.10:11105288:G:C Identity +NM_000527.5:c.2180_2184dup NP_000518.1:p.Leu729fs NC_000019.10:11123211:GTCAGG:GTCAGGTCAGG p.(Leu729SerfsTer3) NC_000019.10:11123211:GTCAGG:GTCAGGTCAGG p.(Leu729SerfsTer3) ERR:SPDI Analogous +NM_000218.3:c.1691A>G NP_000209.2:p.Asp564Gly NC_000011.10:2776990:A:G p.(Asp564Gly) NC_000011.10:2776990:A:G p.(Asp564Gly) NC_000011.10:2776990:A:G Identity +NM_000455.5:c.129del NP_000446.1:p.Lys44fs NC_000019.10:1207040:CC:C p.(Lys44SerfsTer7) NC_000019.10:1207040:CC:C p.(Lys44SerfsTer7) NC_000019.10:1207041:C: Analogous +NM_152701.5:c.11920C>T NP_689914.3:p.Arg3974Ter NC_000007.14:48403728:C:T p.(Arg3974Ter) NC_000007.14:48403728:C:T p.(Arg3974Ter) NC_000007.14:48403728:C:T Identity +NM_000056.5:c.1090G>A NP_000047.1:p.Asp364Asn NC_000006.12:80343714:G:A p.(Asp364Asn) NC_000006.12:80343714:G:A p.(Asp364Asn) NC_000006.12:80343714:G:A Identity +NM_022830.3:c.1297G>A NP_073741.3:p.Ala433Thr NC_000011.10:62576990:C:T p.(Ala433Thr) NC_000011.10:62576990:C:T p.(Ala433Thr) NC_000011.10:62576990:C:T Identity +NM_024675.4:c.976dup NP_078951.2:p.Ser326fs NC_000016.10:23635569:AAA:AAAA p.(Ser326PhefsTer6) NC_000016.10:23635569:AAA:AAAA p.(Ser326PhefsTer6) ERR:SPDI Analogous +NM_021072.4:c.68C>T NP_066550.2:p.Ala23Val NC_000005.10:45696025:G:A p.(Ala23Val) NC_000005.10:45696025:G:A p.(Ala23Val) NC_000005.10:45696025:G:A Identity +NM_002114.4:c.3221A>G NP_002105.3:p.Asn1074Ser NC_000006.12:12123015:A:G p.(Asn1074Ser) NC_000006.12:12123015:A:G p.(Asn1074Ser) NC_000006.12:12123015:A:G Identity +NM_000247.3:c.949_952= NP_000238.1:p.Ala317_Ala318= NC_000006.12:31412380:GCTGGCTG:GCTG p.(Ala317_Ala318=) NT_167248.2:2668109:GCTG: p.(Ala317=) NC_000006.12:2668109:TTTT:GCTG Identity +NM_002458.3:c.11597C>T NP_002449.2:p.Pro3866Leu NC_000011.10:1248476:C:T p.(Pro3866Leu) NC_000011.10:1248476:C:T p.(Pro3866Leu) NC_000011.10:1248476:C:T Identity +NM_001077440.3:c.2090G>A NP_001070908.1:p.Arg697His NC_000006.12:136269559:C:T p.(Arg697His) NC_000006.12:136269559:C:T p.(Arg697His) NC_000006.12:136269559:C:T Identity +NM_001277115.2:c.11267G>A NP_001264044.1:p.Arg3756His NC_000007.14:21861916:G:A p.(Arg3756His) NC_000007.14:21861916:G:A p.(Arg3756His) NC_000007.14:21861916:G:A Identity +NM_005477.3:c.3004G>C NP_005468.1:p.Glu1002Gln NC_000015.10:73323088:C:G p.(Glu1002Gln) NC_000015.10:73323088:C:G p.(Glu1002Gln) NC_000015.10:73323088:C:G Identity +LRG_533t1:c.400G>C LRG_533p1:p.Glu134Gln NC_000011.10:2885089:C:G ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_001353765.2:c.488G>A NP_001340694.1:p.Arg163Gln NC_000002.12:29214034:C:T p.(Arg163Gln) NC_000002.12:29214034:C:T p.(Arg163Gln) NC_000002.12:29214034:C:T Identity +NM_015001.3:c.9730A>C NP_055816.2:p.Thr3244Pro NC_000001.11:15935969:A:C p.(Thr3244Pro) NC_000001.11:15935969:A:C p.(Thr3244Pro) NC_000001.11:15935969:A:C Identity +NM_024334.3:c.486_489del NP_077310.1:p.Asp162fs NC_000003.12:14132905:CGACCGA:CGA p.(Asp162GlufsTer44) NC_000003.12:14132905:CGACCGA:CGA p.(Asp162GlufsTer44) NC_000003.12:14132908:CCGA: Analogous +NM_001193306.2:c.1037A>C NP_001180235.1:p.Glu346Ala NC_000019.10:51745957:T:G p.(Glu346Ala) NC_000019.10:51745957:T:G p.(Glu346Ala) NC_000019.10:51745957:T:G Identity +NM_000545.8:c.539C>T NP_000536.6:p.Ala180Val NC_000012.12:120993531:C:T p.(Ala180Val) NC_000012.12:120993531:C:T p.(Ala180Val) NC_000012.12:120993531:C:T Identity +NM_001377344.1:c.1768A>G NP_001364273.1:p.Met590Val NC_000003.12:66384218:T:C p.(Met590Val) NC_000003.12:66384218:T:C p.(Met590Val) NC_000003.12:66384218:T:C Identity +NM_002422.5:c.133A>G NP_002413.1:p.Lys45Glu NC_000011.10:102842888:T:C p.(Lys45Glu) NC_000011.10:102842888:T:C p.(Lys45Glu) NC_000011.10:102842888:T:C Identity +NM_001001503.2:c.168A>C NP_001001503.1:p.Lys56Asn NC_000021.9:42897045:A:C p.(Lys56Asn) NC_000021.9:42897045:A:C p.(Lys56Asn) NC_000021.9:42897045:A:C Identity +NM_017841.4:c.355dup NP_060311.1:p.Tyr119fs NC_000011.10:61438095:TTT:TTTT p.(Tyr119LeufsTer8) NC_000011.10:61438095:TTT:TTTT p.(Tyr119LeufsTer8) ERR:SPDI Analogous +NM_001204519.2:c.333del NP_001191448.1:p.Asn112fs NC_000017.11:3690982:GGGGG:GGGG p.(Asn112ThrfsTer36) NC_000017.11:3690982:GGGGG:GGGG p.(Asn112ThrfsTer36) NC_000017.11:3690982:G: Analogous +NM_001077269.1:c.593C>T NP_001070737.1:p.Pro198Leu NC_000002.12:174572211:G:A p.(Pro198Leu) NC_000002.12:174572211:G:A p.(Pro198Leu) NC_000002.12:174572211:G:A Identity +NM_001256850.1:c.3701T>C NP_001243779.1:p.Val1234Ala NC_000002.12:178780027:A:G p.(Val1234Ala) NC_000002.12:178780027:A:G p.(Val1234Ala) NC_000002.12:178780027:A:G Identity +NM_001256850.1:c.10112C>T NP_001243779.1:p.Thr3371Ile NC_000002.12:178764178:G:A p.(Thr3371Ile) NC_000002.12:178764178:G:A p.(Thr3371Ile) NC_000002.12:178764178:G:A Identity +NM_001256850.1:c.6612A>T NP_001243779.1:p.Lys2204Asn NC_000002.12:178775098:T:A p.(Lys2204Asn) NC_000002.12:178775098:T:A p.(Lys2204Asn) NC_000002.12:178775098:T:A Identity +NM_005419.4:c.2473G>T NP_005410.1:p.Gly825Cys NC_000012.12:56343471:C:A p.(Gly825Cys) NC_000012.12:56343471:C:A p.(Gly825Cys) NC_000012.12:56343471:C:A Identity +NM_025099.6:c.202G>A NP_079375.3:p.Val68Ile NC_000017.11:8238624:C:T p.(Val68Ile) NC_000017.11:8238624:C:T p.(Val68Ile) NC_000017.11:8238624:C:T Identity +NM_000553.6:c.1505G>T NP_000544.2:p.Gly502Val NC_000008.11:31087848:G:T p.(Gly502Val) NC_000008.11:31087848:G:T p.(Gly502Val) NC_000008.11:31087848:G:T Identity +NM_005477.3:c.1996C>T NP_005468.1:p.Arg666Trp NC_000015.10:73324235:G:A p.(Arg666Trp) NC_000015.10:73324235:G:A p.(Arg666Trp) NC_000015.10:73324235:G:A Identity +NM_001256850.1:c.80497C>T NP_001243779.1:p.Arg26833Cys NC_000002.12:178560711:G:A p.(Arg26833Cys) NC_000002.12:178560711:G:A p.(Arg26833Cys) NC_000002.12:178560711:G:A Identity +NM_001256850.1:c.73363G>A NP_001243779.1:p.Glu24455Lys NC_000002.12:178567845:C:T p.(Glu24455Lys) NC_000002.12:178567845:C:T p.(Glu24455Lys) NC_000002.12:178567845:C:T Identity +NM_000244.4:c.135G>C NP_000235.3:p.Glu45Asp NC_000011.10:64809974:C:G p.(Glu45Asp) NC_000011.10:64809974:C:G p.(Glu45Asp) NC_000011.10:64809974:C:G Identity +NM_000244.4:c.697A>G NP_000235.3:p.Met233Val NC_000011.10:64807652:T:C p.(Met233Val) NC_000011.10:64807652:T:C p.(Met233Val) NC_000011.10:64807652:T:C Identity +NM_001378454.1:c.1609C>G NP_001365383.1:p.Leu537Val NC_000002.12:73448135:C:G p.(Leu537Val) NC_000002.12:73448135:C:G p.(Leu537Val) NC_000002.12:73448135:C:G Identity +NM_000553.6:c.427G>A NP_000544.2:p.Asp143Asn NC_000008.11:31064985:G:A p.(Asp143Asn) NC_000008.11:31064985:G:A p.(Asp143Asn) NC_000008.11:31064985:G:A Identity +NM_000553.6:c.2716A>G NP_000544.2:p.Ser906Gly NC_000008.11:31124606:A:G p.(Ser906Gly) NC_000008.11:31124606:A:G p.(Ser906Gly) NC_000008.11:31124606:A:G Identity +NM_000553.6:c.2947A>G NP_000544.2:p.Ile983Val NC_000008.11:31132485:A:G p.(Ile983Val) NC_000008.11:31132485:A:G p.(Ile983Val) NC_000008.11:31132485:A:G Identity +NM_000314.8:c.945T>G NP_000305.3:p.Tyr315Ter NC_000010.11:87961036:T:G p.(Tyr315Ter) NC_000010.11:87961036:T:G p.(Tyr315Ter) NC_000010.11:87961036:T:G Identity +LRG_402t1:c.2426G>A LRG_402p1:p.Gly809Glu NC_000001.11:237503317:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.5824T>C LRG_402p1:p.Phe1942Leu NC_000001.11:237617393:T:C ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_004304.5:c.142C>A NP_004295.2:p.Arg48Ser NC_000002.12:29920517:G:T p.(Arg48Ser) NC_000002.12:29920517:G:T p.(Arg48Ser) NC_000002.12:29920517:G:T Identity +NM_001145661.2:c.1367C>T NP_001139133.1:p.Pro456Leu NC_000003.12:128481094:G:A p.(Pro456Leu) NC_000003.12:128481094:G:A p.(Pro456Leu) NC_000003.12:128481094:G:A Identity +NM_000314.8:c.200dup NP_000305.3:p.Tyr68fs NC_000010.11:87925547:T:TT p.(Tyr68IlefsTer6) NC_000010.11:87925547:T:TT p.(Tyr68IlefsTer6) ERR:SPDI Analogous +LRG_402t1:c.14422G>A LRG_402p1:p.Asp4808Asn NC_000001.11:237809023:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.14332G>T LRG_402p1:p.Val4778Leu NC_000001.11:237808933:G:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_533t1:c.644C>A LRG_533p1:p.Ala215Asp NC_000011.10:2884845:G:T ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +LRG_402t1:c.8398C>G LRG_402p1:p.Leu2800Val NC_000001.11:237660908:C:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001256850.1:c.3368C>G NP_001243779.1:p.Thr1123Ser NC_000002.12:178782223:G:C p.(Thr1123Ser) NC_000002.12:178782223:G:C p.(Thr1123Ser) NC_000002.12:178782223:G:C Identity +NM_000090.4:c.316G>A NP_000081.2:p.Gly106Ser NC_000002.12:188985229:G:A p.(Gly106Ser) NC_000002.12:188985229:G:A p.(Gly106Ser) NC_000002.12:188985229:G:A Identity +NM_001353765.2:c.1499A>C NP_001340694.1:p.Glu500Ala NC_000002.12:29193383:T:G p.(Glu500Ala) NC_000002.12:29193383:T:G p.(Glu500Ala) NC_000002.12:29193383:T:G Identity +NM_000218.3:c.733G>T NP_000209.2:p.Gly245Ter NC_000011.10:2572061:G:T p.(Gly245Ter) NC_000011.10:2572061:G:T p.(Gly245Ter) NC_000011.10:2572061:G:T Identity +NM_005359.6:c.1052A>T NP_005350.1:p.Asp351Val NC_000018.10:51065518:A:T p.(Asp351Val) NC_000018.10:51065518:A:T p.(Asp351Val) NC_000018.10:51065518:A:T Identity +NM_001256850.1:c.7534G>A NP_001243779.1:p.Glu2512Lys NC_000002.12:178773521:C:T p.(Glu2512Lys) NC_000002.12:178773521:C:T p.(Glu2512Lys) NC_000002.12:178773521:C:T Identity +NM_001256850.1:c.23164G>A NP_001243779.1:p.Val7722Ile NC_000002.12:178719274:C:T p.(Val7722Ile) NC_000002.12:178719274:C:T p.(Val7722Ile) NC_000002.12:178719274:C:T Identity +NM_001256850.1:c.37917T>G NP_001243779.1:p.Asp12639Glu NC_000002.12:178633518:A:C p.(Asp12639Glu) NC_000002.12:178633518:A:C p.(Asp12639Glu) NC_000002.12:178633518:A:C Identity +NM_001256850.1:c.68924G>A NP_001243779.1:p.Arg22975Gln NC_000002.12:178572284:C:T p.(Arg22975Gln) NC_000002.12:178572284:C:T p.(Arg22975Gln) NC_000002.12:178572284:C:T Identity +NM_001256850.1:c.83240C>T NP_001243779.1:p.Thr27747Ile NC_000002.12:178556990:G:A p.(Thr27747Ile) NC_000002.12:178556990:G:A p.(Thr27747Ile) NC_000002.12:178556990:G:A Identity +NM_001256850.1:c.62285C>T NP_001243779.1:p.Thr20762Ile NC_000002.12:178580078:G:A p.(Thr20762Ile) NC_000002.12:178580078:G:A p.(Thr20762Ile) NC_000002.12:178580078:G:A Identity +NM_001256850.1:c.51869G>A NP_001243779.1:p.Trp17290Ter NC_000002.12:178598917:C:T p.(Trp17290Ter) NC_000002.12:178598917:C:T p.(Trp17290Ter) NC_000002.12:178598917:C:T Identity +NM_001256850.1:c.54320G>A NP_001243779.1:p.Arg18107Gln NC_000002.12:178592875:C:T p.(Arg18107Gln) NC_000002.12:178592875:C:T p.(Arg18107Gln) NC_000002.12:178592875:C:T Identity +NM_001256850.1:c.16238C>T NP_001243779.1:p.Pro5413Leu NC_000002.12:178731576:G:A p.(Pro5413Leu) NC_000002.12:178731576:G:A p.(Pro5413Leu) NC_000002.12:178731576:G:A Identity +NM_001256850.1:c.54802A>G NP_001243779.1:p.Ile18268Val NC_000002.12:178592178:T:C p.(Ile18268Val) NC_000002.12:178592178:T:C p.(Ile18268Val) NC_000002.12:178592178:T:C Identity +NM_001256850.1:c.46114G>T NP_001243779.1:p.Glu15372Ter NC_000002.12:178611091:C:A p.(Glu15372Ter) NC_000002.12:178611091:C:A p.(Glu15372Ter) NC_000002.12:178611091:C:A Identity +NM_001256850.1:c.98198G>T NP_001243779.1:p.Cys32733Phe NC_000002.12:178533493:C:A p.(Cys32733Phe) NC_000002.12:178533493:C:A p.(Cys32733Phe) NC_000002.12:178533493:C:A Identity +NM_001256850.1:c.83896C>T NP_001243779.1:p.Arg27966Trp NC_000002.12:178554527:G:A p.(Arg27966Trp) NC_000002.12:178554527:G:A p.(Arg27966Trp) NC_000002.12:178554527:G:A Identity +NM_006231.4:c.1215G>C NP_006222.2:p.Met405Ile NC_000012.12:132675408:C:G p.(Met405Ile) NC_000012.12:132675408:C:G p.(Met405Ile) NC_000012.12:132675408:C:G Identity +NM_006231.4:c.122C>T NP_006222.2:p.Thr41Met NC_000012.12:132681219:G:A p.(Thr41Met) NC_000012.12:132681219:G:A p.(Thr41Met) NC_000012.12:132681219:G:A Identity +NM_000249.4:c.440G>C NP_000240.1:p.Gly147Ala NC_000003.12:37007049:G:C p.(Gly147Ala) NC_000003.12:37007049:G:C p.(Gly147Ala) NC_000003.12:37007049:G:C Identity +NM_001110556.2:c.1900C>G NP_001104026.1:p.Arg634Gly NC_000023.11:154364647:G:C p.(Arg634Gly) NC_000023.11:154364647:G:C p.(Arg634Gly) NC_000023.11:154364647:G:C Identity +NM_001110556.2:c.902G>T NP_001104026.1:p.Arg301Leu NC_000023.11:154366816:C:A p.(Arg301Leu) NC_000023.11:154366816:C:A p.(Arg301Leu) NC_000023.11:154366816:C:A Identity +NM_005359.6:c.260G>C NP_005350.1:p.Arg87Pro NC_000018.10:51048695:G:C p.(Arg87Pro) NC_000018.10:51048695:G:C p.(Arg87Pro) NC_000018.10:51048695:G:C Identity +NM_001256850.1:c.74623G>A NP_001243779.1:p.Gly24875Ser NC_000002.12:178566585:C:T p.(Gly24875Ser) NC_000002.12:178566585:C:T p.(Gly24875Ser) NC_000002.12:178566585:C:T Identity +NM_001256850.1:c.10874A>C NP_001243779.1:p.Lys3625Thr NC_000002.12:178741407:T:G p.(Lys3625Thr) NC_000002.12:178741407:T:G p.(Lys3625Thr) NC_000002.12:178741407:T:G Identity +NM_001256850.1:c.101102A>G NP_001243779.1:p.Tyr33701Cys NC_000002.12:178530589:T:C p.(Tyr33701Cys) NC_000002.12:178530589:T:C p.(Tyr33701Cys) NC_000002.12:178530589:T:C Identity +NM_000548.5:c.3535_3537del NP_000539.2:p.Glu1179del NC_000016.10:2080299:AGGAG:AG p.(Glu1179del) NC_000016.10:2080299:AGGAG:AG p.(Glu1179del) NC_000016.10:2080301:GAG: Identity +NM_006231.4:c.5429A>T NP_006222.2:p.His1810Leu NC_000012.12:132639247:T:A p.(His1810Leu) NC_000012.12:132639247:T:A p.(His1810Leu) NC_000012.12:132639247:T:A Identity +NM_006231.4:c.3976A>G NP_006222.2:p.Ile1326Val NC_000012.12:132649334:T:C p.(Ile1326Val) NC_000012.12:132649334:T:C p.(Ile1326Val) NC_000012.12:132649334:T:C Identity +NM_006231.4:c.5468G>A NP_006222.2:p.Arg1823His NC_000012.12:132639208:C:T p.(Arg1823His) NC_000012.12:132639208:C:T p.(Arg1823His) NC_000012.12:132639208:C:T Identity +NM_006231.4:c.4031T>C NP_006222.2:p.Leu1344Pro NC_000012.12:132649046:A:G p.(Leu1344Pro) NC_000012.12:132649046:A:G p.(Leu1344Pro) NC_000012.12:132649046:A:G Identity +NM_000057.4:c.1640C>T NP_000048.1:p.Thr547Ile NC_000015.10:90761012:C:T p.(Thr547Ile) NC_000015.10:90761012:C:T p.(Thr547Ile) NC_000015.10:90761012:C:T Identity +NM_001012511.3:c.22dup NP_001012529.1:p.Thr8fs NC_000017.11:46923211:AAA:AAAA p.(Thr8AsnfsTer54) NC_000017.11:46923211:AAA:AAAA p.(Thr8AsnfsTer54) ERR:SPDI Analogous +NM_001256850.1:c.82525A>T NP_001243779.1:p.Ile27509Leu NC_000002.12:178557905:T:A p.(Ile27509Leu) NC_000002.12:178557905:T:A p.(Ile27509Leu) NC_000002.12:178557905:T:A Identity +NM_001319034.2:c.3649A>T NP_001305963.1:p.Thr1217Ser NC_000006.12:7579838:A:T p.(Thr1217Ser) NC_000006.12:7579838:A:T p.(Thr1217Ser) NC_000006.12:7579838:A:T Identity +NM_000138.5:c.811T>G NP_000129.3:p.Cys271Gly NC_000015.10:48534130:A:C p.(Cys271Gly) NC_000015.10:48534130:A:C p.(Cys271Gly) NC_000015.10:48534130:A:C Identity +NM_000138.5:c.2638G>C NP_000129.3:p.Gly880Arg NC_000015.10:48495161:C:G p.(Gly880Arg) NC_000015.10:48495161:C:G p.(Gly880Arg) NC_000015.10:48495161:C:G Identity +NM_001178133.2:c.989A>G NP_001171604.1:p.Gln330Arg NC_000010.11:102599510:A:G p.(Gln330Arg) NC_000010.11:102599510:A:G p.(Gln330Arg) NC_000010.11:102599510:A:G Identity +NM_001110556.2:c.5591A>G NP_001104026.1:p.Asn1864Ser NC_000023.11:154354009:T:C p.(Asn1864Ser) NC_000023.11:154354009:T:C p.(Asn1864Ser) NC_000023.11:154354009:T:C Identity +NM_006231.4:c.6130C>T NP_006222.2:p.Leu2044Phe NC_000012.12:132632669:G:A p.(Leu2044Phe) NC_000012.12:132632669:G:A p.(Leu2044Phe) NC_000012.12:132632669:G:A Identity +NM_000548.5:c.4534G>A NP_000539.2:p.Asp1512Asn NC_000016.10:2084990:G:A p.(Asp1512Asn) NC_000016.10:2084990:G:A p.(Asp1512Asn) NC_000016.10:2084990:G:A Identity +NM_001040113.2:c.3219C>G NP_001035202.1:p.Asp1073Glu NC_000016.10:15737543:G:C p.(Asp1073Glu) NC_000016.10:15737543:G:C p.(Asp1073Glu) NC_000016.10:15737543:G:C Identity +NM_005359.6:c.1295G>A NP_005350.1:p.Ser432Asn NC_000018.10:51067173:G:A p.(Ser432Asn) NC_000018.10:51067173:G:A p.(Ser432Asn) NC_000018.10:51067173:G:A Identity +NM_006231.4:c.5635C>T NP_006222.2:p.Arg1879Cys NC_000012.12:132638056:G:A p.(Arg1879Cys) NC_000012.12:132638056:G:A p.(Arg1879Cys) NC_000012.12:132638056:G:A Identity +NM_000335.5:c.104del NP_000326.2:p.Gly35fs NC_000003.12:38633203:CC:C p.(Gly35AlafsTer62) NC_000003.12:38633203:CC:C p.(Gly35AlafsTer62) NC_000003.12:38633203:C: Analogous +NM_006231.4:c.6013G>A NP_006222.2:p.Val2005Met NC_000012.12:132632786:C:T p.(Val2005Met) NC_000012.12:132632786:C:T p.(Val2005Met) NC_000012.12:132632786:C:T Identity +NM_006231.4:c.4198T>C NP_006222.2:p.Tyr1400His NC_000012.12:132643928:A:G p.(Tyr1400His) NC_000012.12:132643928:A:G p.(Tyr1400His) NC_000012.12:132643928:A:G Identity +NM_006231.4:c.3617G>T NP_006222.2:p.Arg1206Met NC_000012.12:132649854:C:A p.(Arg1206Met) NC_000012.12:132649854:C:A p.(Arg1206Met) NC_000012.12:132649854:C:A Identity +NM_006231.4:c.6322G>A NP_006222.2:p.Val2108Met NC_000012.12:132632322:C:T p.(Val2108Met) NC_000012.12:132632322:C:T p.(Val2108Met) NC_000012.12:132632322:C:T Identity +NM_006231.4:c.2659A>T NP_006222.2:p.Lys887Ter NC_000012.12:132664050:T:A p.(Lys887Ter) NC_000012.12:132664050:T:A p.(Lys887Ter) NC_000012.12:132664050:T:A Identity +NM_000143.4:c.620T>C NP_000134.2:p.Leu207Pro NC_000001.11:241508720:A:G p.(Leu207Pro) NC_000001.11:241508720:A:G p.(Leu207Pro) NC_000001.11:241508720:A:G Identity +NM_006231.4:c.522GAA[2] NP_006222.2:p.Lys176del NC_000012.12:132679544:TTCTTCTTC:TTCTTC p.(Lys176del) NC_000012.12:132679552:C:TTCTTC ERR:Parse ERR:Parse Identity +NM_000548.5:c.934C>T NP_000539.2:p.Leu312Phe NC_000016.10:2058831:C:T p.(Leu312Phe) NC_000016.10:2058831:C:T p.(Leu312Phe) NC_000016.10:2058831:C:T Identity +NM_000548.5:c.3551C>A NP_000539.2:p.Ala1184Glu NC_000016.10:2080317:C:A p.(Ala1184Glu) NC_000016.10:2080317:C:A p.(Ala1184Glu) NC_000016.10:2080317:C:A Identity +NM_001040875.4:c.815dup NP_001035808.1:p.Arg273fs NC_000008.11:74364305:TTTT:TTTTT p.(Arg273GlnfsTer12) NC_000008.11:74364305:TTTT:TTTTT p.(Arg273GlnfsTer12) ERR:SPDI Analogous +NM_006231.4:c.5569A>G NP_006222.2:p.Lys1857Glu NC_000012.12:132638122:T:C p.(Lys1857Glu) NC_000012.12:132638122:T:C p.(Lys1857Glu) NC_000012.12:132638122:T:C Identity +NM_006231.4:c.4963A>G NP_006222.2:p.Ile1655Val NC_000012.12:132642386:T:C p.(Ile1655Val) NC_000012.12:132642386:T:C p.(Ile1655Val) NC_000012.12:132642386:T:C Identity +NM_006231.4:c.2993C>T NP_006222.2:p.Thr998Met NC_000012.12:132661035:G:A p.(Thr998Met) NC_000012.12:132661035:G:A p.(Thr998Met) NC_000012.12:132661035:G:A Identity +NM_004260.4:c.2822C>G NP_004251.4:p.Thr941Ser NC_000008.11:144512704:G:C p.(Thr941Ser) NC_000008.11:144512704:G:C p.(Thr941Ser) NC_000008.11:144512704:G:C Identity +NM_000118.4:c.1029_1060del32insATGGTGG NP_000109.1:p.Thr344Trpfs NC_000009.12:127824377:GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG:CCACCAT p.(Thr344TrpfsTer7) NC_000009.12:127824377:GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG:CCACCAT p.(Thr344TrpfsTer7) NC_000009.12:127824377:GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG:CCACCAT Analogous +NM_000138.5:c.3785G>A NP_000129.3:p.Arg1262Lys NC_000015.10:48483870:C:T p.(Arg1262Lys) NC_000015.10:48483870:C:T p.(Arg1262Lys) NC_000015.10:48483870:C:T Identity +NM_000138.5:c.7525T>G NP_000129.3:p.Cys2509Gly NC_000015.10:48421996:A:C p.(Cys2509Gly) NC_000015.10:48421996:A:C p.(Cys2509Gly) NC_000015.10:48421996:A:C Identity +NM_000527.5:c.1562C>T NP_000518.1:p.Ala521Val NC_000019.10:11113737:C:T p.(Ala521Val) NC_000019.10:11113737:C:T p.(Ala521Val) NC_000019.10:11113737:C:T Identity +NM_015346.4:c.605G>A NP_056161.2:p.Arg202Gln NC_000014.9:67807678:C:T p.(Arg202Gln) NC_000014.9:67807678:C:T p.(Arg202Gln) NC_000014.9:67807678:C:T Identity +NM_015627.3:c.115C>T NP_056442.2:p.Arg39Trp NC_000001.11:25553947:C:T p.(Arg39Trp) NC_000001.11:25553947:C:T p.(Arg39Trp) NC_000001.11:25553947:C:T Identity +NM_000546.6:c.870_871delinsAC NP_000537.3:p.Lys291Gln NC_000017.11:7673748:TG:GT p.(Lys291Gln) NC_000017.11:7673748:TG:GT p.(Lys291Gln) NC_000017.11:7673748:TG:GT Identity +NM_001317184.2:c.145G>A NP_001304113.1:p.Gly49Ser NC_000016.10:68738392:G:A p.(Gly49Ser) NC_000016.10:68738392:G:A p.(Gly49Ser) NC_000016.10:68738392:G:A Identity +NM_000378.6:c.609C>G NP_000369.4:p.Asn203Lys NC_000011.10:32434751:G:C p.(Asn203Lys) NC_000011.10:32434751:G:C p.(Asn203Lys) NC_000011.10:32434751:G:C Identity +NM_000077.5:c.125A>G NP_000068.1:p.Asn42Ser NC_000009.12:21974702:T:C p.(Asn42Ser) NC_000009.12:21974702:T:C p.(Asn42Ser) NC_000009.12:21974702:T:C Identity +NM_000465.4:c.1807A>G NP_000456.2:p.Thr603Ala NC_000002.12:214745724:T:C p.(Thr603Ala) NC_000002.12:214745724:T:C p.(Thr603Ala) NC_000002.12:214745724:T:C Identity +NM_001377260.1:c.311C>T NP_001364189.1:p.Ser104Phe NC_000001.11:231421577:G:A p.(Ser104Phe) NC_000001.11:231421577:G:A p.(Ser104Phe) NC_000001.11:231421577:G:A Identity +NM_000335.5:c.5845_5847delinsCAA NP_000326.2:p.Tyr1949Gln NC_000003.12:38550521:GTA:TTG p.(Tyr1949Gln) NC_000003.12:38550521:GTA:TTG p.(Tyr1949Gln) NC_000003.12:38550521:GTA:TTG Identity +NM_001148.6:c.8651A>G NP_001139.3:p.Glu2884Gly NC_000004.12:113357268:A:G p.(Glu2884Gly) NC_000004.12:113357268:A:G p.(Glu2884Gly) NC_000004.12:113357268:A:G Identity +NM_001160227.2:c.6768G>T NP_001153699.1:p.Gln2256His NC_000015.10:44564590:C:A p.(Gln2256His) NC_000015.10:44564590:C:A p.(Gln2256His) NC_000015.10:44564590:C:A Identity +NM_001160227.2:c.5911C>T NP_001153699.1:p.Leu1971Phe NC_000015.10:44572775:G:A p.(Leu1971Phe) NC_000015.10:44572775:G:A p.(Leu1971Phe) NC_000015.10:44572775:G:A Identity +NM_000328.3:c.1366C>T NP_000319.1:p.Gln456Ter NC_000023.11:38297331:G:A p.(Gln456Ter) NC_000023.11:38297331:G:A p.(Gln456Ter) NC_000023.11:38297331:G:A Identity +NM_000051.4:c.3538G>A NP_000042.3:p.Val1180Met NC_000011.10:108281129:G:A p.(Val1180Met) NC_000011.10:108281129:G:A p.(Val1180Met) NC_000011.10:108281129:G:A Identity +NM_000051.4:c.3679A>G NP_000042.3:p.Thr1227Ala NC_000011.10:108282811:A:G p.(Thr1227Ala) NC_000011.10:108282811:A:G p.(Thr1227Ala) NC_000011.10:108282811:A:G Identity +NM_000051.4:c.1440A>T NP_000042.3:p.Leu480Phe NC_000011.10:108250904:A:T p.(Leu480Phe) NC_000011.10:108250904:A:T p.(Leu480Phe) NC_000011.10:108250904:A:T Identity +NM_004260.4:c.1460G>A NP_004251.4:p.Arg487His NC_000008.11:144515172:C:T p.(Arg487His) NC_000008.11:144515172:C:T p.(Arg487His) NC_000008.11:144515172:C:T Identity +NM_001317184.2:c.262C>T NP_001304113.1:p.Pro88Ser NC_000016.10:68801767:C:T p.(Pro88Ser) NC_000016.10:68801767:C:T p.(Pro88Ser) NC_000016.10:68801767:C:T Identity +NM_000546.6:c.905G>A NP_000537.3:p.Gly302Glu NC_000017.11:7673714:C:T p.(Gly302Glu) NC_000017.11:7673714:C:T p.(Gly302Glu) NC_000017.11:7673714:C:T Identity +NM_001031717.4:c.1123A>G NP_001026887.2:p.Thr375Ala NC_000003.12:9943975:A:G p.(Thr375Ala) NC_000003.12:9943975:A:G p.(Thr375Ala) NC_000003.12:9943975:A:G Identity +NM_000257.4:c.2153T>G NP_000248.2:p.Phe718Cys NC_000014.9:23425972:A:C p.(Phe718Cys) NC_000014.9:23425972:A:C p.(Phe718Cys) NC_000014.9:23425972:A:C Identity +NM_032043.3:c.1256G>A NP_114432.2:p.Arg419Gln NC_000017.11:61799183:C:T p.(Arg419Gln) NC_000017.11:61799183:C:T p.(Arg419Gln) NC_000017.11:61799183:C:T Identity +NM_032043.3:c.1902G>C NP_114432.2:p.Gln634His NC_000017.11:61780293:C:G p.(Gln634His) NC_000017.11:61780293:C:G p.(Gln634His) NC_000017.11:61780293:C:G Identity +NM_001330347.2:c.677C>G NP_001317276.1:p.Thr226Ser NC_000011.10:94471741:G:C p.(Thr226Ser) NC_000011.10:94471741:G:C p.(Thr226Ser) NC_000011.10:94471741:G:C Identity +NM_001256849.1:c.661G>T NP_001243778.1:p.Ala221Ser NC_000019.10:50402275:G:T p.(Ala221Ser) NC_000019.10:50402275:G:T p.(Ala221Ser) NC_000019.10:50402275:G:T Identity +NM_001007188.4:c.434G>A NP_001007189.1:p.Trp145Ter NC_000022.11:31778118:G:A p.(Trp145Ter) NC_000022.11:31778118:G:A p.(Trp145Ter) NC_000022.11:31778118:G:A Identity +NM_001347827.2:c.838G>T NP_001334756.1:p.Ala280Ser NC_000004.12:54267366:G:T p.(Ala280Ser) NC_000004.12:54267366:G:T p.(Ala280Ser) NC_000004.12:54267366:G:T Identity +NM_001256849.1:c.3232A>G NP_001243778.1:p.Ile1078Val NC_000019.10:50417854:A:G p.(Ile1078Val) NC_000019.10:50417854:A:G p.(Ile1078Val) NC_000019.10:50417854:A:G Identity +NM_001304481.2:c.1501A>G NP_001291410.1:p.Ile501Val NC_000012.12:32611190:A:G p.(Ile501Val) NC_000012.12:32611190:A:G p.(Ile501Val) NC_000012.12:32611190:A:G Identity +NM_004260.4:c.2902G>A NP_004251.4:p.Val968Met NC_000008.11:144512544:C:T p.(Val968Met) NC_000008.11:144512544:C:T p.(Val968Met) NC_000008.11:144512544:C:T Identity +NM_005732.4:c.1007C>T NP_005723.2:p.Ser336Phe NC_000005.10:132588044:C:T p.(Ser336Phe) NC_000005.10:132588044:C:T p.(Ser336Phe) NC_000005.10:132588044:C:T Identity +NM_000118.4:c.617G>C NP_000109.1:p.Gly206Ala NC_000009.12:127825766:C:G p.(Gly206Ala) NC_000009.12:127825766:C:G p.(Gly206Ala) NC_000009.12:127825766:C:G Identity +NM_000118.4:c.1646G>A NP_000109.1:p.Cys549Tyr NC_000009.12:127818159:C:T p.(Cys549Tyr) NC_000009.12:127818159:C:T p.(Cys549Tyr) NC_000009.12:127818159:C:T Identity +NM_002471.4:c.3598G>C NP_002462.2:p.Asp1200His NC_000014.9:23390190:C:G p.(Asp1200His) NC_000014.9:23390190:C:G p.(Asp1200His) NC_000014.9:23390190:C:G Identity +NM_001377260.1:c.833A>G NP_001364189.1:p.Asp278Gly NC_000001.11:231421055:T:C p.(Asp278Gly) NC_000001.11:231421055:T:C p.(Asp278Gly) NC_000001.11:231421055:T:C Identity +NM_024577.4:c.1483A>G NP_078853.2:p.Thr495Ala NC_000005.10:149028248:T:C p.(Thr495Ala) NC_000005.10:149028248:T:C p.(Thr495Ala) NC_000005.10:149028248:T:C Identity +NM_001206927.2:c.4610G>A NP_001193856.1:p.Arg1537His NC_000006.12:38842667:G:A p.(Arg1537His) NC_000006.12:38842667:G:A p.(Arg1537His) NC_000006.12:38842667:G:A Identity +LRG_386t1:c.1293C>A LRG_386p1:p.Asp431Glu NC_000011.10:47343078:G:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_024577.4:c.86C>T NP_078853.2:p.Ser29Leu NC_000005.10:149052206:G:A p.(Ser29Leu) NC_000005.10:149052206:G:A p.(Ser29Leu) NC_000005.10:149052206:G:A Identity +NM_001347828.2:c.2609A>G NP_001334757.1:p.His870Arg NC_000004.12:54285934:A:G p.(His870Arg) NC_000004.12:54285934:A:G p.(His870Arg) NC_000004.12:54285934:A:G Identity +NM_000051.4:c.2485C>G NP_000042.3:p.Pro829Ala NC_000011.10:108267188:C:G p.(Pro829Ala) NC_000011.10:108267188:C:G p.(Pro829Ala) NC_000011.10:108267188:C:G Identity +NM_032043.3:c.2558C>T NP_114432.2:p.Pro853Leu NC_000017.11:61693446:G:A p.(Pro853Leu) NC_000017.11:61693446:G:A p.(Pro853Leu) NC_000017.11:61693446:G:A Identity +NM_032043.3:c.3191T>C NP_114432.2:p.Phe1064Ser NC_000017.11:61683854:A:G p.(Phe1064Ser) NC_000017.11:61683854:A:G p.(Phe1064Ser) NC_000017.11:61683854:A:G Identity +NM_001363813.1:c.1209G>T NP_001350742.1:p.Glu403Asp NC_000017.11:65537826:C:A p.(Glu403Asp) NC_000017.11:65537826:C:A p.(Glu403Asp) NC_000017.11:65537826:C:A Identity +NM_001363813.1:c.1486G>A NP_001350742.1:p.Ala496Thr NC_000017.11:65537549:C:T p.(Ala496Thr) NC_000017.11:65537549:C:T p.(Ala496Thr) NC_000017.11:65537549:C:T Identity +NM_001347827.2:c.88A>G NP_001334756.1:p.Ile30Val NC_000004.12:54261132:A:G p.(Ile30Val) NC_000004.12:54261132:A:G p.(Ile30Val) NC_000004.12:54261132:A:G Identity +NM_001347828.2:c.3281A>G NP_001334757.1:p.Asp1094Gly NC_000004.12:54295207:A:G p.(Asp1094Gly) NC_000004.12:54295207:A:G p.(Asp1094Gly) NC_000004.12:54295207:A:G Identity +NM_001347827.2:c.1103A>G NP_001334756.1:p.Glu368Gly NC_000004.12:54267722:A:G p.(Glu368Gly) NC_000004.12:54267722:A:G p.(Glu368Gly) NC_000004.12:54267722:A:G Identity +NM_000051.4:c.5294A>G NP_000042.3:p.Gln1765Arg NC_000011.10:108301763:A:G p.(Gln1765Arg) NC_000011.10:108301763:A:G p.(Gln1765Arg) NC_000011.10:108301763:A:G Identity +NM_000051.4:c.995A>T NP_000042.3:p.Tyr332Phe NC_000011.10:108247056:A:T p.(Tyr332Phe) NC_000011.10:108247056:A:T p.(Tyr332Phe) NC_000011.10:108247056:A:T Identity +NM_001172810.3:c.196C>T NP_001166281.1:p.Arg66Trp NC_000017.11:74285051:C:T p.(Arg66Trp) NC_000017.11:74285051:C:T p.(Arg66Trp) NC_000017.11:74285051:C:T Identity +LRG_1122t1:c.4472C>T LRG_1122p1:p.Thr1491Met NC_000009.12:136505423:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001032221.6:c.1434G>A NP_001027392.1:p.Trp478Ter NC_000009.12:127678504:G:A p.(Trp478Ter) NC_000009.12:127678504:G:A p.(Trp478Ter) NC_000009.12:127678504:G:A Identity +NM_032444.4:c.3362C>T NP_115820.2:p.Ser1121Phe NC_000016.10:3590275:G:A p.(Ser1121Phe) NC_000016.10:3590275:G:A p.(Ser1121Phe) NC_000016.10:3590275:G:A Identity +NM_032444.4:c.3958A>T NP_115820.2:p.Thr1320Ser NC_000016.10:3589679:T:A p.(Thr1320Ser) NC_000016.10:3589679:T:A p.(Thr1320Ser) NC_000016.10:3589679:T:A Identity +NM_000051.4:c.2795A>G NP_000042.3:p.Asp932Gly NC_000011.10:108268565:A:G p.(Asp932Gly) NC_000011.10:108268565:A:G p.(Asp932Gly) NC_000011.10:108268565:A:G Identity +NM_001243342.2:c.113A>G NP_001230271.1:p.Asp38Gly NC_000017.11:80039830:A:G p.(Asp38Gly) NC_000017.11:80039830:A:G p.(Asp38Gly) NC_000017.11:80039830:A:G Identity +NM_032043.3:c.2855T>G NP_114432.2:p.Ile952Ser NC_000017.11:61685885:A:C p.(Ile952Ser) NC_000017.11:61685885:A:C p.(Ile952Ser) NC_000017.11:61685885:A:C Identity +NM_005732.4:c.2492A>G NP_005723.2:p.Glu831Gly NC_000005.10:132604013:A:G p.(Glu831Gly) NC_000005.10:132604013:A:G p.(Glu831Gly) NC_000005.10:132604013:A:G Identity +NM_000264.5:c.2102G>T NP_000255.2:p.Ser701Ile NC_000009.12:95468898:C:A p.(Ser701Ile) NC_000009.12:95468898:C:A p.(Ser701Ile) NC_000009.12:95468898:C:A Identity +NM_000264.5:c.2176C>T NP_000255.2:p.Pro726Ser NC_000009.12:95468824:G:A p.(Pro726Ser) NC_000009.12:95468824:G:A p.(Pro726Ser) NC_000009.12:95468824:G:A Identity +NM_001407602.1:c.2209del NP_001394531.1:p.Thr737fs NC_000017.11:43093321:TTT:TT p.(Thr737GlnfsTer16) NC_000017.11:43093321:TTT:TT p.(Thr737GlnfsTer16) NC_000017.11:43093321:T: Analogous +NM_001256849.1:c.968A>G NP_001243778.1:p.Lys323Arg NC_000019.10:50402738:A:G p.(Lys323Arg) NC_000019.10:50402738:A:G p.(Lys323Arg) NC_000019.10:50402738:A:G Identity +LRG_785t2:c.2867C>G LRG_785p2:p.Ala956Gly NC_000019.10:50415794:C:G ERR:Data provider error: ValueError: Transcript LRG_785t2 not found ERR:Data provider error: ValueError: Transcript LRG_785t2 not found ERR:AlignmentMapper(tx_ac=LRG_785t2, alt_ac=LRG_785t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_785t2, alt_ac=LRG_785t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_785t2 not found +NM_080860.4:c.57A>T NP_543136.1:p.Glu19Asp NC_000021.9:42493076:T:A p.(Glu19Asp) NC_000021.9:42493076:T:A p.(Glu19Asp) NC_000021.9:42493076:T:A Identity +NM_000135.4:c.1772G>A NP_000126.2:p.Arg591Gln NC_000016.10:89778946:C:T p.(Arg591Gln) NC_000016.10:89778946:C:T p.(Arg591Gln) NC_000016.10:89778946:C:T Identity +NM_000251.3:c.388C>T NP_000242.1:p.Gln130Ter NC_000002.12:47410114:C:T p.(Gln130Ter) NC_000002.12:47410114:C:T p.(Gln130Ter) NC_000002.12:47410114:C:T Identity +NM_000251.3:c.726C>G NP_000242.1:p.Asn242Lys NC_000002.12:47412493:C:G p.(Asn242Lys) NC_000002.12:47412493:C:G p.(Asn242Lys) NC_000002.12:47412493:C:G Identity +NM_000251.3:c.103C>T NP_000242.1:p.Arg35Cys NC_000002.12:47403293:C:T p.(Arg35Cys) NC_000002.12:47403293:C:T p.(Arg35Cys) NC_000002.12:47403293:C:T Identity +NM_001128844.3:c.1286C>T NP_001122316.1:p.Ala429Val NC_000019.10:10991189:C:T p.(Ala429Val) NC_000019.10:10991189:C:T p.(Ala429Val) NC_000019.10:10991189:C:T Identity +NM_001128844.3:c.4285C>T NP_001122316.1:p.Arg1429Cys NC_000019.10:11041420:C:T p.(Arg1429Cys) NC_000019.10:11041420:C:T p.(Arg1429Cys) NC_000019.10:11041420:C:T Identity +NM_001128844.3:c.1483G>A NP_001122316.1:p.Gly495Ser NC_000019.10:10994890:G:A p.(Gly495Ser) NC_000019.10:10994890:G:A p.(Gly495Ser) NC_000019.10:10994890:G:A Identity +NM_000059.4:c.4085A>G NP_000050.3:p.His1362Arg NC_000013.11:32338439:A:G p.(His1362Arg) NC_000013.11:32338439:A:G p.(His1362Arg) NC_000013.11:32338439:A:G Identity +NM_032043.3:c.2085dup NP_114432.2:p.Pro696fs NC_000017.11:61776412:C:CC p.(Pro696AlafsTer21) NC_000017.11:61776412:C:CC p.(Pro696AlafsTer21) ERR:SPDI Analogous +NM_032444.4:c.973A>T NP_115820.2:p.Thr325Ser NC_000016.10:3601168:T:A p.(Thr325Ser) NC_000016.10:3601168:T:A p.(Thr325Ser) NC_000016.10:3601168:T:A Identity +NM_001113378.2:c.3946G>A NP_001106849.1:p.Gly1316Arg NC_000015.10:89316417:G:A p.(Gly1316Arg) NC_000015.10:89316417:G:A p.(Gly1316Arg) NC_000015.10:89316417:G:A Identity +NM_005732.4:c.929A>G NP_005723.2:p.Asn310Ser NC_000005.10:132587966:A:G p.(Asn310Ser) NC_000005.10:132587966:A:G p.(Asn310Ser) NC_000005.10:132587966:A:G Identity +NM_005732.4:c.2771A>G NP_005723.2:p.Gln924Arg NC_000005.10:132608666:A:G p.(Gln924Arg) NC_000005.10:132608666:A:G p.(Gln924Arg) NC_000005.10:132608666:A:G Identity +NM_001128844.3:c.4702G>A NP_001122316.1:p.Asp1568Asn NC_000019.10:11059818:G:A p.(Asp1568Asn) NC_000019.10:11059818:G:A p.(Asp1568Asn) NC_000019.10:11059818:G:A Identity +NM_152594.3:c.1031A>G NP_689807.1:p.His344Arg NC_000015.10:38351359:A:G p.(His344Arg) NC_000015.10:38351359:A:G p.(His344Arg) NC_000015.10:38351359:A:G Identity +NM_001321309.2:c.1081G>A NP_001308238.1:p.Val361Ile NC_000003.12:123725985:C:T p.(Val361Ile) NC_000003.12:123725985:C:T p.(Val361Ile) NC_000003.12:123725985:C:T Identity +NM_000135.4:c.3718G>C NP_000126.2:p.Glu1240Gln NC_000016.10:89742846:C:G p.(Glu1240Gln) NC_000016.10:89742846:C:G p.(Glu1240Gln) NC_000016.10:89742846:C:G Identity +NM_000393.5:c.1792C>T NP_000384.2:p.Arg598Cys NC_000002.12:189063248:G:A p.(Arg598Cys) NC_000002.12:189063248:G:A p.(Arg598Cys) NC_000002.12:189063248:G:A Identity +NM_001130916.3:c.469T>C NP_001124388.1:p.Phe157Leu NC_000009.12:99137983:T:C p.(Phe157Leu) NC_000009.12:99137983:T:C p.(Phe157Leu) NC_000009.12:99137983:T:C Identity +NM_001308276.2:c.984G>A NP_001295205.1:p.Trp328Ter NC_000010.11:93797256:G:A p.(Trp328Ter) NC_000010.11:93797256:G:A p.(Trp328Ter) NC_000010.11:93797256:G:A Identity +NM_001165963.4:c.5787C>G NP_001159435.1:p.His1929Gln NC_000002.12:165991487:G:C p.(His1929Gln) NC_000002.12:165991487:G:C p.(His1929Gln) NC_000002.12:165991487:G:C Identity +LRG_1122t1:c.157G>A LRG_1122p1:p.Val53Met NC_000009.12:136523962:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000264.5:c.3460G>A NP_000255.2:p.Ala1154Thr NC_000009.12:95449929:C:T p.(Ala1154Thr) NC_000009.12:95449929:C:T p.(Ala1154Thr) NC_000009.12:95449929:C:T Identity +NM_000109.4:c.10951G>A NP_000100.3:p.Val3651Met NC_000023.11:31134140:C:T p.(Val3651Met) NC_000023.11:31134140:C:T p.(Val3651Met) NC_000023.11:31134140:C:T Identity +NM_001130442.3:c.317C>T NP_001123914.1:p.Ser106Leu NC_000011.10:533585:G:A p.(Ser106Leu) NC_000011.10:533585:G:A p.(Ser106Leu) NC_000011.10:533585:G:A Identity +NM_005732.4:c.1412C>T NP_005723.2:p.Ser471Leu NC_000005.10:132589796:C:T p.(Ser471Leu) NC_000005.10:132589796:C:T p.(Ser471Leu) NC_000005.10:132589796:C:T Identity +NM_001363813.1:c.1387C>T NP_001350742.1:p.Arg463Cys NC_000017.11:65537648:G:A p.(Arg463Cys) NC_000017.11:65537648:G:A p.(Arg463Cys) NC_000017.11:65537648:G:A Identity +NM_001363813.1:c.866A>G NP_001350742.1:p.Tyr289Cys NC_000017.11:65549609:T:C p.(Tyr289Cys) NC_000017.11:65549609:T:C p.(Tyr289Cys) NC_000017.11:65549609:T:C Identity +NM_024675.4:c.1553C>G NP_078951.2:p.Ser518Ter NC_000016.10:23634992:G:C p.(Ser518Ter) NC_000016.10:23634992:G:C p.(Ser518Ter) NC_000016.10:23634992:G:C Identity +NM_001128844.3:c.1889G>A NP_001122316.1:p.Gly630Asp NC_000019.10:11003104:G:A p.(Gly630Asp) NC_000019.10:11003104:G:A p.(Gly630Asp) NC_000019.10:11003104:G:A Identity +NM_001105243.2:c.2870C>T NP_001098713.1:p.Ala957Val NC_000023.11:100296712:G:A p.(Ala957Val) NC_000023.11:100296712:G:A p.(Ala957Val) NC_000023.11:100296712:G:A Identity +NM_001172631.3:c.53A>G NP_001166102.1:p.Tyr18Cys NC_000014.9:102376773:A:G p.(Tyr18Cys) NC_000014.9:102376773:A:G p.(Tyr18Cys) NC_000014.9:102376773:A:G Identity +NM_001376.5:c.7148G>A NP_001367.2:p.Arg2383His NC_000014.9:102015237:G:A p.(Arg2383His) NC_000014.9:102015237:G:A p.(Arg2383His) NC_000014.9:102015237:G:A Identity +NM_001363823.2:c.410del NP_001350752.1:p.Glu137fs NC_000002.12:32064240:A: p.(Glu137GlyfsTer23) NC_000002.12:32064240:A: p.(Glu137GlyfsTer23) NC_000002.12:32064240:A: Analogous +LRG_1122t1:c.527G>A LRG_1122p1:p.Arg176Gln NC_000009.12:136523064:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000059.4:c.6009AGA[1] NP_000050.3:p.Glu2004del NC_000013.11:32340363:AGAAGA:AGA p.(Glu2004del) NC_000013.11:32340363:A:AGA ERR:Parse ERR:Parse Identity +NM_000059.4:c.8875G>A NP_000050.3:p.Glu2959Lys NC_000013.11:32379436:G:A p.(Glu2959Lys) NC_000013.11:32379436:G:A p.(Glu2959Lys) NC_000013.11:32379436:G:A Identity +NM_000059.4:c.2383T>C NP_000050.3:p.Ser795Pro NC_000013.11:32336737:T:C p.(Ser795Pro) NC_000013.11:32336737:T:C p.(Ser795Pro) NC_000013.11:32336737:T:C Identity +NM_000059.4:c.5879GTA[1] NP_000050.3:p.Ser1961del NC_000013.11:32340233:GTAGTA:GTA p.(Ser1961del) NC_000013.11:32340233:G:GTA ERR:Parse ERR:Parse Identity +NM_000388.4:c.508T>C NP_000379.3:p.Ser170Pro NC_000003.12:122261542:T:C p.(Ser170Pro) NC_000003.12:122261542:T:C p.(Ser170Pro) NC_000003.12:122261542:T:C Identity +NM_000179.3:c.2735G>A NP_000170.1:p.Trp912Ter NC_000002.12:47800717:G:A p.(Trp912Ter) NC_000002.12:47800717:G:A p.(Trp912Ter) NC_000002.12:47800717:G:A Identity +NM_001407741.1:c.5279T>A NP_001394670.1:p.Val1760Glu NC_000017.11:43047686:A:T p.(Val1760Glu) NC_000017.11:43047686:A:T p.(Val1760Glu) NC_000017.11:43047686:A:T Identity +NM_000222.3:c.1555C>T NP_000213.1:p.His519Tyr NC_000004.12:54727231:C:T p.(His519Tyr) NC_000004.12:54727231:C:T p.(His519Tyr) NC_000004.12:54727231:C:T Identity +NM_001363813.1:c.836C>G NP_001350742.1:p.Pro279Arg NC_000017.11:65549639:G:C p.(Pro279Arg) NC_000017.11:65549639:G:C p.(Pro279Arg) NC_000017.11:65549639:G:C Identity +NM_001363813.1:c.1180C>T NP_001350742.1:p.Arg394Cys NC_000017.11:65538222:G:A p.(Arg394Cys) NC_000017.11:65538222:G:A p.(Arg394Cys) NC_000017.11:65538222:G:A Identity +LRG_292t1:c.2909A>T LRG_292p1:p.Lys970Ile NC_000017.11:43092621:T:A ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000059.4:c.4414A>G NP_000050.3:p.Lys1472Glu NC_000013.11:32338768:A:G p.(Lys1472Glu) NC_000013.11:32338768:A:G p.(Lys1472Glu) NC_000013.11:32338768:A:G Identity +NM_001346599.2:c.548C>T NP_001333528.1:p.Pro183Leu NC_000007.14:105547275:C:T p.(Pro183Leu) NC_000007.14:105547275:C:T p.(Pro183Leu) NC_000007.14:105547275:C:T Identity +NM_001277115.2:c.179G>C NP_001264044.1:p.Arg60Pro NC_000007.14:21543423:G:C p.(Arg60Pro) NC_000007.14:21543423:G:C p.(Arg60Pro) NC_000007.14:21543423:G:C Identity +NM_000093.5:c.4192G>T NP_000084.3:p.Ala1398Ser NC_000009.12:134817792:G:T p.(Ala1398Ser) NC_000009.12:134817792:G:T p.(Ala1398Ser) NC_000009.12:134817792:G:T Identity +NM_053025.4:c.463A>C NP_444253.3:p.Ile155Leu NC_000003.12:123739021:T:G p.(Ile155Leu) NC_000003.12:123739021:T:G p.(Ile155Leu) NC_000003.12:123739021:T:G Identity +NM_000222.3:c.1227_1228delinsAT NP_000213.1:p.Asn410Tyr NC_000004.12:54709534:GA:AT p.(Asn410Tyr) NC_000004.12:54709534:GA:AT p.(Asn410Tyr) NC_000004.12:54709534:GA:AT Identity +NM_000535.7:c.1844T>C NP_000526.2:p.Val615Ala NC_000007.14:5986920:A:G p.(Val615Ala) NC_000007.14:5986920:A:G p.(Val615Ala) NC_000007.14:5986920:A:G Identity +NM_001286957.2:c.251A>G NP_001273886.1:p.Gln84Arg NC_000012.12:48918344:A:G p.(Gln84Arg) NC_000012.12:48918344:A:G p.(Gln84Arg) NC_000012.12:48918344:A:G Identity +NM_001291997.2:c.803G>A NP_001278926.1:p.Arg268His NC_000016.10:79211692:G:A p.(Arg268His) NC_000016.10:79211692:G:A p.(Arg268His) NC_000016.10:79211692:G:A Identity +NM_024675.4:c.3262C>G NP_078951.2:p.Pro1088Ala NC_000016.10:23607951:G:C p.(Pro1088Ala) NC_000016.10:23607951:G:C p.(Pro1088Ala) NC_000016.10:23607951:G:C Identity +NM_003280.3:c.433G>A NP_003271.1:p.Asp145Asn NC_000003.12:52451411:C:T p.(Asp145Asn) NC_000003.12:52451411:C:T p.(Asp145Asn) NC_000003.12:52451411:C:T Identity +NM_000109.4:c.10701del NP_000100.3:p.Met3568fs NC_000023.11:31147346:CC:C p.(Met3568CysfsTer18) NC_000023.11:31147346:CC:C p.(Met3568CysfsTer18) NC_000023.11:31147346:C: Analogous +NM_000368.5:c.1631G>A NP_000359.1:p.Gly544Glu NC_000009.12:132905946:C:T p.(Gly544Glu) NC_000009.12:132905946:C:T p.(Gly544Glu) NC_000009.12:132905946:C:T Identity +NM_000038.6:c.6131G>A NP_000029.2:p.Ser2044Asn NC_000005.10:112841724:G:A p.(Ser2044Asn) NC_000005.10:112841724:G:A p.(Ser2044Asn) NC_000005.10:112841724:G:A Identity +NM_000038.6:c.2411A>G NP_000029.2:p.Asn804Ser NC_000005.10:112838004:A:G p.(Asn804Ser) NC_000005.10:112838004:A:G p.(Asn804Ser) NC_000005.10:112838004:A:G Identity +NM_017802.4:c.836G>A NP_060272.3:p.Arg279His NC_000007.14:740873:G:A p.(Arg279His) NC_000007.14:740873:G:A p.(Arg279His) NC_000007.14:740873:G:A Identity +NM_001329939.2:c.965T>C NP_001316868.1:p.Ile322Thr NC_000014.9:75961037:A:G p.(Ile322Thr) NC_000014.9:75961037:A:G p.(Ile322Thr) NC_000014.9:75961037:A:G Identity +NM_001177428.1:c.1816A>G NP_001170899.1:p.Thr606Ala NC_000012.12:109788650:T:C p.(Thr606Ala) NC_000012.12:109788650:T:C p.(Thr606Ala) NC_000012.12:109788650:T:C Identity +NM_001407590.1:c.3577A>G NP_001394519.1:p.Thr1193Ala NC_000017.11:43091950:T:C p.(Thr1193Ala) NC_000017.11:43091950:T:C p.(Thr1193Ala) NC_000017.11:43091950:T:C Identity +NM_001407591.1:c.5626C>A NP_001394520.1:p.Pro1876Thr NC_000017.11:43045703:G:T p.(Pro1876Thr) NC_000017.11:43045703:G:T p.(Pro1876Thr) NC_000017.11:43045703:G:T Identity +NM_001353229.2:c.197G>A NP_001340158.1:p.Gly66Glu NC_000017.11:17227940:C:T p.(Gly66Glu) NC_000017.11:17227940:C:T p.(Gly66Glu) NC_000017.11:17227940:C:T Identity +NM_001142571.2:c.794T>C NP_001136043.1:p.Val265Ala NC_000017.11:35103257:A:G p.(Val265Ala) NC_000017.11:35103257:A:G p.(Val265Ala) NC_000017.11:35103257:A:G Identity +NM_001007468.3:c.158G>T NP_001007469.1:p.Arg53Leu NC_000022.11:23791819:G:T p.(Arg53Leu) NC_000022.11:23791819:G:T p.(Arg53Leu) NC_000022.11:23791819:G:T Identity +NM_000179.3:c.1756G>C NP_000170.1:p.Val586Leu NC_000002.12:47799738:G:C p.(Val586Leu) NC_000002.12:47799738:G:C p.(Val586Leu) NC_000002.12:47799738:G:C Identity +NM_000179.3:c.104C>T NP_000170.1:p.Ala35Val NC_000002.12:47783336:C:T p.(Ala35Val) NC_000002.12:47783336:C:T p.(Ala35Val) NC_000002.12:47783336:C:T Identity +NM_000179.3:c.1117C>T NP_000170.1:p.Leu373Phe NC_000002.12:47799099:C:T p.(Leu373Phe) NC_000002.12:47799099:C:T p.(Leu373Phe) NC_000002.12:47799099:C:T Identity +NM_001024688.3:c.223G>A NP_001019859.1:p.Val75Ile NC_000008.11:89980744:C:T p.(Val75Ile) NC_000008.11:89980744:C:T p.(Val75Ile) NC_000008.11:89980744:C:T Identity +NM_001382394.1:c.3742C>A NP_001369323.1:p.Pro1248Thr NC_000002.12:38986062:G:T p.(Pro1248Thr) NC_000002.12:38986062:G:T p.(Pro1248Thr) NC_000002.12:38986062:G:T Identity +NM_001346599.2:c.62T>G NP_001333528.1:p.Ile21Ser NC_000007.14:105542429:T:G p.(Ile21Ser) NC_000007.14:105542429:T:G p.(Ile21Ser) NC_000007.14:105542429:T:G Identity +NM_000321.3:c.2194_2197del NP_000312.2:p.Pro732fs NC_000013.11:48463817:CCTC: p.(Pro732MetfsTer11) NC_000013.11:48463817:CCTC: p.(Pro732MetfsTer11) NC_000013.11:48463817:CCTC: Analogous +NM_001040142.2:c.1198dup NP_001035232.1:p.Thr400fs NC_000002.12:165313919:AAAA:AAAAA p.(Thr400AsnfsTer30) NC_000002.12:165313919:AAAA:AAAAA p.(Thr400AsnfsTer30) ERR:SPDI Analogous +NM_001005505.3:c.3273C>A NP_001005505.1:p.His1091Gln NC_000003.12:50364911:G:T p.(His1091Gln) NC_000003.12:50364911:G:T p.(His1091Gln) NC_000003.12:50364911:G:T Identity +NM_001142571.2:c.788dup NP_001136043.1:p.Met263fs NC_000017.11:35103263:A:AA p.(Met263IlefsTer84) NC_000017.11:35103263:A:AA p.(Met263IlefsTer84) ERR:SPDI Analogous +NM_001365999.1:c.4064A>G NP_001352928.1:p.His1355Arg NC_000001.11:43428383:A:G p.(His1355Arg) NC_000001.11:43428383:A:G p.(His1355Arg) NC_000001.11:43428383:A:G Identity +NM_001195573.1:c.3127A>G NP_001182502.1:p.Ile1043Val NC_000014.9:95105212:T:C p.(Ile1043Val) NC_000014.9:95105212:T:C p.(Ile1043Val) NC_000014.9:95105212:T:C Identity +NM_000368.5:c.850C>A NP_000359.1:p.Arg284Ser NC_000009.12:132912344:G:T p.(Arg284Ser) NC_000009.12:132912344:G:T p.(Arg284Ser) NC_000009.12:132912344:G:T Identity +NM_000321.3:c.613G>A NP_000312.2:p.Val205Ile NC_000013.11:48360021:G:A p.(Val205Ile) NC_000013.11:48360021:G:A p.(Val205Ile) NC_000013.11:48360021:G:A Identity +NM_001001890.3:c.724G>C NP_001001890.1:p.Asp242His NC_000021.9:34834409:C:G p.(Asp242His) NC_000021.9:34834409:C:G p.(Asp242His) NC_000021.9:34834409:C:G Identity +NM_001001890.3:c.720G>A NP_001001890.1:p.Met240Ile NC_000021.9:34834413:C:T p.(Met240Ile) NC_000021.9:34834413:C:T p.(Met240Ile) NC_000021.9:34834413:C:T Identity +NM_005431.2:c.515C>T NP_005422.1:p.Thr172Ile NC_000007.14:152648969:G:A p.(Thr172Ile) NC_000007.14:152648969:G:A p.(Thr172Ile) NC_000007.14:152648969:G:A Identity +NM_000038.6:c.6473C>A NP_000029.2:p.Pro2158His NC_000005.10:112842066:C:A p.(Pro2158His) NC_000005.10:112842066:C:A p.(Pro2158His) NC_000005.10:112842066:C:A Identity +NM_153240.5:c.2978G>A NP_694972.3:p.Ser993Asn NC_000003.12:132688796:C:T p.(Ser993Asn) NC_000003.12:132688796:C:T p.(Ser993Asn) NC_000003.12:132688796:C:T Identity +NM_017780.4:c.6255G>T NP_060250.2:p.Leu2085Phe NC_000008.11:60852979:G:T p.(Leu2085Phe) NC_000008.11:60852979:G:T p.(Leu2085Phe) NC_000008.11:60852979:G:T Identity +NM_000368.5:c.3419C>T NP_000359.1:p.Pro1140Leu NC_000009.12:132896310:G:A p.(Pro1140Leu) NC_000009.12:132896310:G:A p.(Pro1140Leu) NC_000009.12:132896310:G:A Identity +NM_001352773.2:c.959G>A NP_001339702.1:p.Arg320His NC_000017.11:41765017:C:T p.(Arg320His) NC_000017.11:41765017:C:T p.(Arg320His) NC_000017.11:41765017:C:T Identity +NM_024675.4:c.2028T>G NP_078951.2:p.Ile676Met NC_000016.10:23630125:A:C p.(Ile676Met) NC_000016.10:23630125:A:C p.(Ile676Met) NC_000016.10:23630125:A:C Identity +NM_001172420.2:c.625_635del NP_001165891.1:p.Asp209fs NC_000006.12:52452791:ATCAGACTTTGATCA:ATCA p.(Asp209ThrfsTer8) NC_000006.12:52452791:ATCAGACTTTGATCA:ATCA p.(Asp209ThrfsTer8) NC_000006.12:52452795:GACTTTGATCA: Analogous +NM_017841.4:c.2T>C NP_060311.1:p.Met1Thr NC_000011.10:61430147:T:C p.(Met1Thr) NC_000011.10:61430147:T:C p.Met1? NC_000011.10:61430147:T:C Identity +NM_001278055.2:c.7804A>G NP_001264984.1:p.Ile2602Val NC_000013.11:23335630:T:C p.(Ile2602Val) NC_000013.11:23335630:T:C p.(Ile2602Val) NC_000013.11:23335630:T:C Identity +NM_000020.3:c.623_624del NP_000011.2:p.Val208fs NC_000012.12:51914065:GTGTGTG:GTGTG p.(Val208GlyfsTer16) NC_000012.12:51914065:GTGTGTG:GTGTG p.(Val208GlyfsTer16) NC_000012.12:51914070:TG: Analogous +NM_000020.3:c.1121G>A NP_000011.2:p.Arg374Gln NC_000012.12:51916107:G:A p.(Arg374Gln) NC_000012.12:51916107:G:A p.(Arg374Gln) NC_000012.12:51916107:G:A Identity +NM_000038.6:c.1332T>G NP_000029.2:p.His444Gln NC_000005.10:112821914:T:G p.(His444Gln) NC_000005.10:112821914:T:G p.(His444Gln) NC_000005.10:112821914:T:G Identity +NM_000038.6:c.4088A>T NP_000029.2:p.Lys1363Ile NC_000005.10:112839681:A:T p.(Lys1363Ile) NC_000005.10:112839681:A:T p.(Lys1363Ile) NC_000005.10:112839681:A:T Identity +NM_001024688.3:c.248T>G NP_001019859.1:p.Leu83Arg NC_000008.11:89978309:A:C p.(Leu83Arg) NC_000008.11:89978309:A:C p.(Leu83Arg) NC_000008.11:89978309:A:C Identity +NM_000179.3:c.869T>C NP_000170.1:p.Leu290Pro NC_000002.12:47798851:T:C p.(Leu290Pro) NC_000002.12:47798851:T:C p.(Leu290Pro) NC_000002.12:47798851:T:C Identity +NM_000179.3:c.3586G>C NP_000170.1:p.Glu1196Gln NC_000002.12:47805646:G:C p.(Glu1196Gln) NC_000002.12:47805646:G:C p.(Glu1196Gln) NC_000002.12:47805646:G:C Identity +NM_017841.4:c.430G>A NP_060311.1:p.Ala144Thr NC_000011.10:61445999:G:A p.(Ala144Thr) NC_000011.10:61445999:G:A p.(Ala144Thr) NC_000011.10:61445999:G:A Identity +NM_001256267.2:c.329A>C NP_001243196.1:p.Asn110Thr NC_000010.11:68121766:A:C p.(Asn110Thr) NC_000010.11:68121766:A:C p.(Asn110Thr) NC_000010.11:68121766:A:C Identity +NM_001195573.1:c.3227G>A NP_001182502.1:p.Ser1076Asn NC_000014.9:95105112:C:T p.(Ser1076Asn) NC_000014.9:95105112:C:T p.(Ser1076Asn) NC_000014.9:95105112:C:T Identity +NM_001257281.2:c.542T>C NP_001244210.1:p.Ile181Thr NC_000002.12:232087661:T:C p.(Ile181Thr) NC_000002.12:232087661:T:C p.(Ile181Thr) NC_000002.12:232087661:T:C Identity +NM_001346599.2:c.29A>C NP_001333528.1:p.Lys10Thr NC_000007.14:105536601:A:C p.(Lys10Thr) NC_000007.14:105536601:A:C p.(Lys10Thr) NC_000007.14:105536601:A:C Identity +NM_001024688.3:c.1639G>T NP_001019859.1:p.Asp547Tyr NC_000008.11:89947852:C:A p.(Asp547Tyr) NC_000008.11:89947852:C:A p.(Asp547Tyr) NC_000008.11:89947852:C:A Identity +NM_000245.4:c.352A>G NP_000236.2:p.Met118Val NC_000007.14:116699435:A:G p.(Met118Val) NC_000007.14:116699435:A:G p.(Met118Val) NC_000007.14:116699435:A:G Identity +NM_001127500.3:c.2296A>G NP_001120972.1:p.Ser766Gly NC_000007.14:116759367:A:G p.(Ser766Gly) NC_000007.14:116759367:A:G p.(Ser766Gly) NC_000007.14:116759367:A:G Identity +NM_000535.7:c.1262G>A NP_000526.2:p.Arg421Gln NC_000007.14:5987502:C:T p.(Arg421Gln) NC_000007.14:5987502:C:T p.(Arg421Gln) NC_000007.14:5987502:C:T Identity +NM_001099679.2:c.1384G>A NP_001093149.1:p.Val462Met NC_000009.12:116699125:G:A p.(Val462Met) NC_000009.12:116699125:G:A p.(Val462Met) NC_000009.12:116699125:G:A Identity +NM_001195573.1:c.377A>G NP_001182502.1:p.Asn126Ser NC_000014.9:95131569:T:C p.(Asn126Ser) NC_000014.9:95131569:T:C p.(Asn126Ser) NC_000014.9:95131569:T:C Identity +NM_001082575.3:c.257C>T NP_001076044.1:p.Pro86Leu NC_000017.11:79106753:G:A p.(Pro86Leu) NC_000017.11:79106753:G:A p.(Pro86Leu) NC_000017.11:79106753:G:A Identity +NM_017780.4:c.6278G>A NP_060250.2:p.Cys2093Tyr NC_000008.11:60853002:G:A p.(Cys2093Tyr) NC_000008.11:60853002:G:A p.(Cys2093Tyr) NC_000008.11:60853002:G:A Identity +NM_000038.6:c.8030G>A NP_000029.2:p.Gly2677Asp NC_000005.10:112843623:G:A p.(Gly2677Asp) NC_000005.10:112843623:G:A p.(Gly2677Asp) NC_000005.10:112843623:G:A Identity +NM_000038.6:c.3155C>T NP_000029.2:p.Pro1052Leu NC_000005.10:112838748:C:T p.(Pro1052Leu) NC_000005.10:112838748:C:T p.(Pro1052Leu) NC_000005.10:112838748:C:T Identity +NM_021147.5:c.685G>A NP_066970.3:p.Gly229Ser NC_000005.10:55231742:C:T p.(Gly229Ser) NC_000005.10:55231742:C:T p.(Gly229Ser) NC_000005.10:55231742:C:T Identity +NM_001363850.1:c.932T>A NP_001350779.1:p.Val311Glu NC_000016.10:89530752:T:A p.(Val311Glu) NC_000016.10:89530752:T:A p.(Val311Glu) NC_000016.10:89530752:T:A Identity +NM_001999.4:c.3515G>A NP_001990.2:p.Gly1172Asp NC_000005.10:128338079:C:T p.(Gly1172Asp) NC_000005.10:128338079:C:T p.(Gly1172Asp) NC_000005.10:128338079:C:T Identity +NM_000245.4:c.3163C>A NP_000236.2:p.Leu1055Ile NC_000007.14:116775014:C:A p.(Leu1055Ile) NC_000007.14:116775014:C:A p.(Leu1055Ile) NC_000007.14:116775014:C:A Identity +NM_000245.4:c.3192G>C NP_000236.2:p.Gln1064His NC_000007.14:116775043:G:C p.(Gln1064His) NC_000007.14:116775043:G:C p.(Gln1064His) NC_000007.14:116775043:G:C Identity +NM_000551.4:c.178C>G NP_000542.1:p.Arg60Gly NC_000003.12:10142024:C:G p.(Arg60Gly) NC_000003.12:10142024:C:G p.(Arg60Gly) NC_000003.12:10142024:C:G Identity +NM_000551.4:c.30G>T NP_000542.1:p.Glu10Asp NC_000003.12:10141876:G:T p.(Glu10Asp) NC_000003.12:10141876:G:T p.(Glu10Asp) NC_000003.12:10141876:G:T Identity +NM_001195573.1:c.1423A>T NP_001182502.1:p.Ser475Cys NC_000014.9:95117707:T:A p.(Ser475Cys) NC_000014.9:95117707:T:A p.(Ser475Cys) NC_000014.9:95117707:T:A Identity +NM_001195573.1:c.1306T>C NP_001182502.1:p.Ser436Pro NC_000014.9:95124265:A:G p.(Ser436Pro) NC_000014.9:95124265:A:G p.(Ser436Pro) NC_000014.9:95124265:A:G Identity +NM_001195573.1:c.1430A>G NP_001182502.1:p.Asn477Ser NC_000014.9:95117700:T:C p.(Asn477Ser) NC_000014.9:95117700:T:C p.(Asn477Ser) NC_000014.9:95117700:T:C Identity +NM_001195573.1:c.1707A>G NP_001182502.1:p.Ile569Met NC_000014.9:95116497:T:C p.(Ile569Met) NC_000014.9:95116497:T:C p.(Ile569Met) NC_000014.9:95116497:T:C Identity +NM_001272003.2:c.50C>T NP_001258932.1:p.Ala17Val NC_000009.12:135702307:C:T p.(Ala17Val) NC_000009.12:135702307:C:T p.(Ala17Val) NC_000009.12:135702307:C:T Identity +NM_001195573.1:c.2380C>T NP_001182502.1:p.Pro794Ser NC_000014.9:95108379:G:A p.(Pro794Ser) NC_000014.9:95108379:G:A p.(Pro794Ser) NC_000014.9:95108379:G:A Identity +NM_001195573.1:c.109A>T NP_001182502.1:p.Ile37Phe NC_000014.9:95133349:T:A p.(Ile37Phe) NC_000014.9:95133349:T:A p.(Ile37Phe) NC_000014.9:95133349:T:A Identity +NM_001290020.2:c.1228C>G NP_001276949.1:p.Gln410Glu NC_000010.11:27968932:G:C p.(Gln410Glu) NC_000010.11:27968932:G:C p.(Gln410Glu) NC_000010.11:27968932:G:C Identity +NM_001195573.1:c.3628C>T NP_001182502.1:p.Pro1210Ser NC_000014.9:95103767:G:A p.(Pro1210Ser) NC_000014.9:95103767:G:A p.(Pro1210Ser) NC_000014.9:95103767:G:A Identity +NM_001290020.2:c.766G>A NP_001276949.1:p.Asp256Asn NC_000010.11:27983895:C:T p.(Asp256Asn) NC_000010.11:27983895:C:T p.(Asp256Asn) NC_000010.11:27983895:C:T Identity +NM_001195573.1:c.2946T>A NP_001182502.1:p.Asn982Lys NC_000014.9:95106081:A:T p.(Asn982Lys) NC_000014.9:95106081:A:T p.(Asn982Lys) NC_000014.9:95106081:A:T Identity +NM_003000.3:c.721T>G NP_002991.2:p.Tyr241Asp NC_000001.11:17022651:A:C p.(Tyr241Asp) NC_000001.11:17022651:A:C p.(Tyr241Asp) NC_000001.11:17022651:A:C Identity +NM_001171653.2:c.1314G>C NP_001165124.1:p.Lys438Asn NC_000002.12:144399800:C:G p.(Lys438Asn) NC_000002.12:144399800:C:G p.(Lys438Asn) NC_000002.12:144399800:C:G Identity +NM_001294332.2:c.522G>T NP_001281261.1:p.Leu174Phe NC_000005.10:228228:G:T p.(Leu174Phe) NC_000005.10:228228:G:T p.(Leu174Phe) NC_000005.10:228228:G:T Identity +NM_003000.3:c.717dup NP_002991.2:p.Leu240fs NC_000001.11:17022655:A:AA p.(Leu240SerfsTer16) NC_000001.11:17022655:A:AA p.(Leu240SerfsTer16) ERR:SPDI Analogous +NM_003000.3:c.455C>T NP_002991.2:p.Ser152Phe NC_000001.11:17027833:G:A p.(Ser152Phe) NC_000001.11:17027833:G:A p.(Ser152Phe) NC_000001.11:17027833:G:A Identity +NM_001206927.2:c.13823C>T NP_001193856.1:p.Thr4608Met NC_000006.12:39026653:C:T p.(Thr4608Met) NC_000006.12:39026653:C:T p.(Thr4608Met) NC_000006.12:39026653:C:T Identity +NM_001293306.2:c.3288C>G NP_001280235.2:p.Ile1096Met NC_000003.12:38723490:G:C p.(Ile1096Met) NC_000003.12:38723490:G:C p.(Ile1096Met) NC_000003.12:38723490:G:C Identity +NM_032444.4:c.73G>A NP_115820.2:p.Gly25Arg NC_000016.10:3608891:C:T p.(Gly25Arg) NC_000016.10:3608891:C:T p.(Gly25Arg) NC_000016.10:3608891:C:T Identity +NM_001256849.1:c.55C>T NP_001243778.1:p.Arg19Cys NC_000019.10:50398905:C:T p.(Arg19Cys) NC_000019.10:50398905:C:T p.(Arg19Cys) NC_000019.10:50398905:C:T Identity +NM_003000.3:c.331_332del NP_002991.2:p.Leu111fs NC_000001.11:17028690:AGAG:AG p.(Leu111SerfsTer7) NC_000001.11:17028690:AGAG:AG p.(Leu111SerfsTer7) NC_000001.11:17028690:AG: Analogous +NM_005477.3:c.2210A>G NP_005468.1:p.Gln737Arg NC_000015.10:73323882:T:C p.(Gln737Arg) NC_000015.10:73323882:T:C p.(Gln737Arg) NC_000015.10:73323882:T:C Identity +NM_144670.6:c.1328G>A NP_653271.3:p.Arg443Gln NC_000012.12:8843212:G:A p.(Arg443Gln) NC_000012.12:8843212:G:A p.(Arg443Gln) NC_000012.12:8843212:G:A Identity +NM_000118.4:c.388C>T NP_000109.1:p.Pro130Ser NC_000009.12:127826644:G:A p.(Pro130Ser) NC_000009.12:127826644:G:A p.(Pro130Ser) NC_000009.12:127826644:G:A Identity +NM_032444.4:c.2103G>C NP_115820.2:p.Glu701Asp NC_000016.10:3594509:C:G p.(Glu701Asp) NC_000016.10:3594509:C:G p.(Glu701Asp) NC_000016.10:3594509:C:G Identity +NM_001256714.1:c.131G>T NP_001243643.1:p.Trp44Leu NC_000019.10:55166517:C:A p.(Trp44Leu) NC_000019.10:55166517:C:A p.(Trp44Leu) NC_000019.10:55166517:C:A Identity +NM_000501.4:c.1388A>G NP_000492.2:p.Lys463Arg NC_000007.14:74057669:A:G p.(Lys463Arg) NC_000007.14:74057669:A:G p.(Lys463Arg) NC_000007.14:74057669:A:G Identity +NM_006393.3:c.367G>A NP_006384.1:p.Glu123Lys NC_000010.11:20888098:C:T p.(Glu123Lys) NC_000010.11:20888098:C:T p.(Glu123Lys) NC_000010.11:20888098:C:T Identity +NM_001256850.1:c.88292G>A NP_001243779.1:p.Arg29431His NC_000002.12:178548410:C:T p.(Arg29431His) NC_000002.12:178548410:C:T p.(Arg29431His) NC_000002.12:178548410:C:T Identity +NM_001178133.2:c.412G>A NP_001171604.1:p.Ala138Thr NC_000010.11:102550063:G:A p.(Ala138Thr) NC_000010.11:102550063:G:A p.(Ala138Thr) NC_000010.11:102550063:G:A Identity +NM_032444.4:c.2047G>A NP_115820.2:p.Ala683Thr NC_000016.10:3594565:C:T p.(Ala683Thr) NC_000016.10:3594565:C:T p.(Ala683Thr) NC_000016.10:3594565:C:T Identity +NM_000503.6:c.1615G>T NP_000494.2:p.Glu539Ter NC_000008.11:71211238:C:A p.(Glu539Ter) NC_000008.11:71211238:C:A p.(Glu539Ter) NC_000008.11:71211238:C:A Identity +NM_000038.6:c.6403A>G NP_000029.2:p.Ile2135Val NC_000005.10:112841996:A:G p.(Ile2135Val) NC_000005.10:112841996:A:G p.(Ile2135Val) NC_000005.10:112841996:A:G Identity +NM_001324095.2:c.321C>G NP_001311024.1:p.Cys107Trp NC_000008.11:119105884:C:G p.(Cys107Trp) NC_000008.11:119105884:C:G p.(Cys107Trp) NC_000008.11:119105884:C:G Identity +NM_000051.4:c.4058A>G NP_000042.3:p.Glu1353Gly NC_000011.10:108287663:A:G p.(Glu1353Gly) NC_000011.10:108287663:A:G p.(Glu1353Gly) NC_000011.10:108287663:A:G Identity +NM_000429.3:c.319C>G NP_000420.1:p.Leu107Val NC_000010.11:80280765:G:C p.(Leu107Val) NC_000010.11:80280765:G:C p.(Leu107Val) NC_000010.11:80280765:G:C Identity +NM_001256850.1:c.6163G>A NP_001243779.1:p.Glu2055Lys NC_000002.12:178775700:C:T p.(Glu2055Lys) NC_000002.12:178775700:C:T p.(Glu2055Lys) NC_000002.12:178775700:C:T Identity +NM_006231.4:c.4541T>C NP_006222.2:p.Val1514Ala NC_000012.12:132643233:A:G p.(Val1514Ala) NC_000012.12:132643233:A:G p.(Val1514Ala) NC_000012.12:132643233:A:G Identity +NM_001160227.2:c.3068A>G NP_001153699.1:p.Glu1023Gly NC_000015.10:44613506:T:C p.(Glu1023Gly) NC_000015.10:44613506:T:C p.(Glu1023Gly) NC_000015.10:44613506:T:C Identity +NM_001005505.3:c.271G>A NP_001005505.1:p.Val91Ile NC_000003.12:50476134:C:T p.(Val91Ile) NC_000003.12:50476134:C:T p.(Val91Ile) NC_000003.12:50476134:C:T Identity +NM_001034833.2:c.246G>A NP_001030005.1:p.Pro82= NC_000005.10:178149822:C:T p.(Pro82=) NC_000005.10:178149822:C:T p.(Pro82=) NC_000005.10:178149822:C:T Identity +NM_005996.4:c.1423C>T NP_005987.3:p.Gln475Ter NC_000012.12:114674451:G:A p.(Gln475Ter) NC_000012.12:114674451:G:A p.(Gln475Ter) NC_000012.12:114674451:G:A Identity +NM_025077.4:c.518T>G NP_079353.3:p.Val173Gly NC_000001.11:45342408:T:G p.(Val173Gly) NC_000001.11:45342408:T:G p.(Val173Gly) NC_000001.11:45342408:T:G Identity +NM_000179.3:c.3878_3881dup NP_000170.1:p.Pro1295fs NC_000002.12:47806526:GCTTG:GCTTGCTTG p.(Pro1295LeufsTer3) NC_000002.12:47806526:GCTTG:GCTTGCTTG p.(Pro1295LeufsTer3) ERR:SPDI Analogous +NM_001127892.2:c.3123_3124del NP_001121364.1:p.Cys1042fs NC_000016.10:51138806:AT: p.(Cys1042TrpfsTer35) NC_000016.10:51138806:AT: p.(Cys1042TrpfsTer35) NC_000016.10:51138806:AT: Analogous +NM_001079.4:c.1748G>A NP_001070.2:p.Arg583His NC_000002.12:97739385:G:A p.(Arg583His) NC_000002.12:97739385:G:A p.(Arg583His) NC_000002.12:97739385:G:A Identity +NM_001317184.2:c.298G>A NP_001304113.1:p.Val100Ile NC_000016.10:68801803:G:A p.(Val100Ile) NC_000016.10:68801803:G:A p.(Val100Ile) NC_000016.10:68801803:G:A Identity +NM_001136493.3:c.700G>A NP_001129965.1:p.Val234Ile NC_000001.11:39965960:G:A p.(Val234Ile) NC_000001.11:39965960:G:A p.(Val234Ile) NC_000001.11:39965960:G:A Identity +NM_000719.7:c.959C>T NP_000710.5:p.Thr320Met NC_000012.12:2493231:C:T p.(Thr320Met) NC_000012.12:2493231:C:T p.(Thr320Met) NC_000012.12:2493231:C:T Identity +NM_004329.3:c.233C>T NP_004320.2:p.Thr78Ile NC_000010.11:86892128:C:T p.(Thr78Ile) NC_000010.11:86892128:C:T p.(Thr78Ile) NC_000010.11:86892128:C:T Identity +NM_001048171.2:c.846G>C NP_001041636.2:p.Gln282His NC_000001.11:45332168:C:G p.(Gln282His) NC_000001.11:45332168:C:G p.(Gln282His) NC_000001.11:45332168:C:G Identity +NM_024675.4:c.1619A>G NP_078951.2:p.Asn540Ser NC_000016.10:23634926:T:C p.(Asn540Ser) NC_000016.10:23634926:T:C p.(Asn540Ser) NC_000016.10:23634926:T:C Identity +NM_001190458.2:c.5312A>G NP_001177387.1:p.Tyr1771Cys NC_000009.12:446400:A:G p.(Tyr1771Cys) NC_000009.12:446400:A:G p.(Tyr1771Cys) NC_000009.12:446400:A:G Identity +LRG_778t1:c.4936T>G LRG_778p1:p.Cys1646Gly NC_000015.10:48465573:A:C ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_001387438.1:c.952G>A NP_001374367.1:p.Ala318Thr NC_000019.10:18868763:C:T p.(Ala318Thr) NC_000019.10:18868763:C:T p.(Ala318Thr) NC_000019.10:18868763:C:T Identity +NM_000411.8:c.906G>C NP_000402.3:p.Arg302Ser NC_000021.9:36936538:C:G p.(Arg302Ser) NC_000021.9:36936538:C:G p.(Arg302Ser) NC_000021.9:36936538:C:G Identity +NM_000539.3:c.946del NP_000530.1:p.Cys316fs NC_000003.12:129533616:T: p.(Cys316AlafsTer44) NC_000003.12:129533616:T: p.(Cys316AlafsTer44) NC_000003.12:129533616:T: Analogous +NM_001172425.3:c.928C>A NP_001165896.1:p.Pro310Thr NC_000001.11:225937511:G:T p.(Pro310Thr) NC_000001.11:225937511:G:T p.(Pro310Thr) NC_000001.11:225937511:G:T Identity +NM_016532.4:c.149T>C NP_057616.2:p.Ile50Thr NC_000017.11:1513874:A:G p.(Ile50Thr) NC_000017.11:1513874:A:G p.(Ile50Thr) NC_000017.11:1513874:A:G Identity +NM_001256071.3:c.5530G>A NP_001243000.2:p.Ala1844Thr NC_000017.11:80339896:G:A p.(Ala1844Thr) NC_000017.11:80339896:G:A p.(Ala1844Thr) NC_000017.11:80339896:G:A Identity +NM_004802.4:c.3637G>T NP_004793.2:p.Ala1213Ser NC_000002.12:26460080:C:A p.(Ala1213Ser) NC_000002.12:26460080:C:A p.(Ala1213Ser) NC_000002.12:26460080:C:A Identity +NM_001407946.1:c.4152G>C NP_001394875.1:p.Arg1384Ser NC_000017.11:43074520:C:G p.(Arg1384Ser) NC_000017.11:43074520:C:G p.(Arg1384Ser) NC_000017.11:43074520:C:G Identity +NM_000059.4:c.1831_1842delinsATCAG NP_000050.3:p.Ser611fs NC_000013.11:32333308:TCAGAACTAATT:ATCAG p.(Ser611IlefsTer31) NC_000013.11:32333308:TCAGAACTAATT:ATCAG p.(Ser611IlefsTer31) NC_000013.11:32333308:TCAGAACTAATT:ATCAG Analogous +NM_002016.2:c.557dup NP_002007.1:p.Asn186fs NC_000001.11:152314328:TTTTT:TTTTTT p.(Asn186LysfsTer4) NC_000001.11:152314328:TTTTT:TTTTTT p.(Asn186LysfsTer4) ERR:SPDI Analogous +NM_000059.4:c.7347T>G NP_000050.3:p.Ile2449Met NC_000013.11:32355199:T:G p.(Ile2449Met) NC_000013.11:32355199:T:G p.(Ile2449Met) NC_000013.11:32355199:T:G Identity +NM_000314.8:c.1025A>C NP_000305.3:p.Lys342Thr NC_000010.11:87961116:A:C p.(Lys342Thr) NC_000010.11:87961116:A:C p.(Lys342Thr) NC_000010.11:87961116:A:C Identity +NM_000251.3:c.1108G>A NP_000242.1:p.Ala370Thr NC_000002.12:47429772:G:A p.(Ala370Thr) NC_000002.12:47429772:G:A p.(Ala370Thr) NC_000002.12:47429772:G:A Identity +NM_000059.4:c.1681G>C NP_000050.3:p.Gly561Arg NC_000013.11:32333158:G:C p.(Gly561Arg) NC_000013.11:32333158:G:C p.(Gly561Arg) NC_000013.11:32333158:G:C Identity +NM_000143.4:c.566A>T NP_000134.2:p.Asp189Val NC_000001.11:241508774:T:A p.(Asp189Val) NC_000001.11:241508774:T:A p.(Asp189Val) NC_000001.11:241508774:T:A Identity +NM_000535.7:c.142del NP_000526.2:p.Asp48fs NC_000007.14:6005912:CC:C p.(Asp48MetfsTer9) NC_000007.14:6005912:CC:C p.(Asp48MetfsTer9) NC_000007.14:6005912:C: Analogous +NM_000296.4:c.1687C>T NP_000287.4:p.Gln563Ter NC_000016.10:2116563:G:A p.(Gln563Ter) NC_000016.10:2116563:G:A p.(Gln563Ter) NC_000016.10:2116563:G:A Identity +NM_000162.5:c.113A>C NP_000153.1:p.Gln38Pro NC_000007.14:44153395:T:G p.(Gln38Pro) NC_000007.14:44153395:T:G p.(Gln38Pro) NC_000007.14:44153395:T:G Identity +NM_001164674.2:c.710A>G NP_001158146.1:p.Gln237Arg NC_000003.12:4417182:T:C p.(Gln237Arg) NC_000003.12:4417182:T:C p.(Gln237Arg) NC_000003.12:4417182:T:C Identity +NM_014384.3:c.46_52del NP_055199.1:p.Leu16fs NC_000011.10:134253645:CTGCCCG: p.(Leu16AlafsTer14) NC_000011.10:134253645:CTGCCCG: p.(Leu16AlafsTer14) NC_000011.10:134253645:CTGCCCG: Analogous +NM_007208.4:c.571A>C NP_009139.1:p.Thr191Pro NC_000003.12:131487737:T:G p.(Thr191Pro) NC_000003.12:131487737:T:G p.(Thr191Pro) NC_000003.12:131487737:T:G Identity +NM_001321135.2:c.799A>G NP_001308064.1:p.Ser267Gly NC_000015.10:77032354:A:G p.(Ser267Gly) NC_000015.10:77032354:A:G p.(Ser267Gly) NC_000015.10:77032354:A:G Identity +NM_000724.4:c.1726A>G NP_000715.2:p.Lys576Glu NC_000010.11:18539631:A:G p.(Lys576Glu) NC_000010.11:18539631:A:G p.(Lys576Glu) NC_000010.11:18539631:A:G Identity +NM_000070.3:c.1126T>G NP_000061.1:p.Trp376Gly NC_000015.10:42396809:T:G p.(Trp376Gly) NC_000015.10:42396809:T:G p.(Trp376Gly) NC_000015.10:42396809:T:G Identity +NM_001127698.2:c.1964G>A NP_001121170.1:p.Gly655Asp NC_000005.10:148114437:G:A p.(Gly655Asp) NC_000005.10:148114437:G:A p.(Gly655Asp) NC_000005.10:148114437:G:A Identity +NM_000551.4:c.89G>A NP_000542.1:p.Gly30Glu NC_000003.12:10141935:G:A p.(Gly30Glu) NC_000003.12:10141935:G:A p.(Gly30Glu) NC_000003.12:10141935:G:A Identity +NM_000059.4:c.4320A>C NP_000050.3:p.Lys1440Asn NC_000013.11:32338674:A:C p.(Lys1440Asn) NC_000013.11:32338674:A:C p.(Lys1440Asn) NC_000013.11:32338674:A:C Identity +NM_000465.4:c.2226G>C NP_000456.2:p.Leu742Phe NC_000002.12:214728783:C:G p.(Leu742Phe) NC_000002.12:214728783:C:G p.(Leu742Phe) NC_000002.12:214728783:C:G Identity +NM_005559.4:c.1243del NP_005550.2:p.His415fs NC_000018.10:7042162:GG:G p.(His415IlefsTer78) NC_000018.10:7042162:GG:G p.(His415IlefsTer78) NC_000018.10:7042162:G: Analogous +NM_000251.3:c.2519T>C NP_000242.1:p.Val840Ala NC_000002.12:47480755:T:C p.(Val840Ala) NC_000002.12:47480755:T:C p.(Val840Ala) NC_000002.12:47480755:T:C Identity +NM_025243.4:c.503_505del NP_079519.1:p.Ser168del NC_000002.12:227699209:ACGAC:AC p.(Ser168del) NC_000002.12:227699209:ACGAC:AC p.(Ser168del) NC_000002.12:227699209:ACG: Identity +NM_206933.4:c.5614delinsTTAAGTTGGCAT NP_996816.3:p.Ala1872fs NC_000001.11:216073258:C:ATGCCAACTTAA p.(Ala1872LeufsTer64) NC_000001.11:216073258:C:ATGCCAACTTAA p.(Ala1872LeufsTer64) NC_000001.11:216073258:C:ATGCCAACTTAA Analogous +LRG_843t1:c.1372T>C LRG_843p1:p.Tyr458His NC_000023.11:100407225:A:G ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_843t1 not found +NM_001316690.1:c.1732C>T NP_001303619.1:p.Arg578Ter NC_000008.11:60862243:C:T p.(Arg578Ter) NC_000008.11:60862243:C:T p.(Arg578Ter) NC_000008.11:60862243:C:T Identity +NM_001128425.2:c.196G>A NP_001121897.1:p.Ala66Thr NC_000001.11:45333564:C:T p.(Ala66Thr) NC_000001.11:45333564:C:T p.(Ala66Thr) NC_000001.11:45333564:C:T Identity +NM_001007792.1:c.1366G>A NP_001007793.1:p.Glu456Lys NC_000001.11:156875638:G:A p.(Glu456Lys) NC_000001.11:156875638:G:A p.(Glu456Lys) NC_000001.11:156875638:G:A Identity +NM_000244.4:c.1520dup NP_000235.3:p.Leu509fs NC_000011.10:64804661:TT:TTT p.(Leu509ProfsTer27) NC_000011.10:64804661:TT:TTT p.(Leu509ProfsTer27) ERR:SPDI Analogous +NM_000136.3:c.338G>C NP_000127.2:p.Trp113Ser NC_000009.12:95240655:C:G p.(Trp113Ser) NC_000009.12:95240655:C:G p.(Trp113Ser) NC_000009.12:95240655:C:G Identity +NM_032043.3:c.1968G>T NP_114432.2:p.Lys656Asn NC_000017.11:61776529:C:A p.(Lys656Asn) NC_000017.11:61776529:C:A p.(Lys656Asn) NC_000017.11:61776529:C:A Identity +NM_000087.5:c.818G>A NP_000078.3:p.Arg273Gln NC_000004.12:47937663:C:T p.(Arg273Gln) NC_000004.12:47937663:C:T p.(Arg273Gln) NC_000004.12:47937663:C:T Identity +LRG_216t1:c.1163C>T LRG_216p1:p.Ser388Phe NC_000003.12:37025760:C:T ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_216t1 not found +NM_001165963.4:c.1633T>C NP_001159435.1:p.Tyr545His NC_000002.12:166045071:A:G p.(Tyr545His) NC_000002.12:166045071:A:G p.(Tyr545His) NC_000002.12:166045071:A:G Identity +NM_001367916.1:c.14G>A NP_001354845.1:p.Trp5Ter NC_000023.11:77895396:C:T p.(Trp5Ter) NC_000023.11:77895396:C:T p.(Trp5Ter) NC_000023.11:77895396:C:T Identity +NM_006231.4:c.1336C>T NP_006222.2:p.Arg446Trp NC_000012.12:132673597:G:A p.(Arg446Trp) NC_000012.12:132673597:G:A p.(Arg446Trp) NC_000012.12:132673597:G:A Identity +NM_001030001.4:c.73T>C NP_001025172.1:p.Ser25Pro NC_000014.9:49586038:A:G p.(Ser25Pro) NC_000014.9:49586038:A:G p.(Ser25Pro) NC_000014.9:49586038:A:G Identity +NM_000071.3:c.112G>A NP_000062.1:p.Ala38Thr NC_000021.9:43072081:C:T p.(Ala38Thr) NC_000021.9:43072081:C:T p.(Ala38Thr) NC_000021.9:43072081:C:T Identity +NM_000038.6:c.6665C>T NP_000029.2:p.Pro2222Leu NC_000005.10:112842258:C:T p.(Pro2222Leu) NC_000005.10:112842258:C:T p.(Pro2222Leu) NC_000005.10:112842258:C:T Identity +NM_000051.4:c.2251T>A NP_000042.3:p.Ser751Thr NC_000011.10:108257480:T:A p.(Ser751Thr) NC_000011.10:108257480:T:A p.(Ser751Thr) NC_000011.10:108257480:T:A Identity +NM_001371271.1:c.88A>C NP_001358200.1:p.Lys30Gln NC_000002.12:120797407:A:C p.(Lys30Gln) NC_000002.12:120797407:A:C p.(Lys30Gln) NC_000002.12:120797407:A:C Identity +NM_001145102.2:c.771_783dup NP_001138574.1:p.Thr262fs NC_000015.10:67187440:TGTCTACCAGTTG:TGTCTACCAGTTGTGTCTACCAGTTG p.(Thr262CysfsTer35) NC_000015.10:67187440:TGTCTACCAGTTG:TGTCTACCAGTTGTGTCTACCAGTTG p.(Thr262CysfsTer35) ERR:SPDI Analogous +NM_001193503.2:c.581del NP_001180432.1:p.Pro194fs NC_000017.11:4955446:CCC:CC p.(Pro194GlnfsTer5) NC_000017.11:4955446:CCC:CC p.(Pro194GlnfsTer5) NC_000017.11:4955448:C: Analogous +NM_001256850.1:c.73481G>A NP_001243779.1:p.Trp24494Ter NC_000002.12:178567727:C:T p.(Trp24494Ter) NC_000002.12:178567727:C:T p.(Trp24494Ter) NC_000002.12:178567727:C:T Identity +NM_001370356.1:c.614_623del NP_001357285.1:p.Leu205fs NC_000011.10:124878726:CTCTTACACCCTC:CTC p.(Leu205HisfsTer80) NC_000011.10:124878726:CTCTTACACCCTC:CTC p.(Leu205HisfsTer80) NC_000011.10:124878729:TTACACCCTC: Analogous +NM_000257.4:c.5459G>A NP_000248.2:p.Arg1820Gln NC_000014.9:23415094:C:T p.(Arg1820Gln) NC_000014.9:23415094:C:T p.(Arg1820Gln) NC_000014.9:23415094:C:T Identity +NM_000747.3:c.872T>C NP_000738.2:p.Leu291Pro NC_000017.11:7454347:T:C p.(Leu291Pro) NC_000017.11:7454347:T:C p.(Leu291Pro) NC_000017.11:7454347:T:C Identity +NM_001177428.1:c.803G>A NP_001170899.1:p.Arg268Gln NC_000012.12:109798821:C:T p.(Arg268Gln) NC_000012.12:109798821:C:T p.(Arg268Gln) NC_000012.12:109798821:C:T Identity +NM_058216.3:c.774del NP_478123.1:p.Thr259fs NC_000017.11:58709926:T: p.(Thr259LeufsTer4) NC_000017.11:58709926:T: p.(Thr259LeufsTer4) NC_000017.11:58709926:T: Analogous +NM_000059.4:c.8708A>G NP_000050.3:p.Glu2903Gly NC_000013.11:32376744:A:G p.(Glu2903Gly) NC_000013.11:32376744:A:G p.(Glu2903Gly) NC_000013.11:32376744:A:G Identity +NM_000051.4:c.4520C>T NP_000042.3:p.Thr1507Ile NC_000011.10:108292701:C:T p.(Thr1507Ile) NC_000011.10:108292701:C:T p.(Thr1507Ile) NC_000011.10:108292701:C:T Identity +NM_004360.5:c.1279A>G NP_004351.1:p.Thr427Ala NC_000016.10:68813453:A:G p.(Thr427Ala) NC_000016.10:68813453:A:G p.(Thr427Ala) NC_000016.10:68813453:A:G Identity +NM_014845.6:c.1373dup NP_055660.1:p.Leu458fs NC_000006.12:109762188:TTTT:TTTTT p.(Leu458PhefsTer5) NC_000006.12:109762188:TTTT:TTTTT p.(Leu458PhefsTer5) ERR:SPDI Analogous +NM_000397.4:c.602_605dup NP_000388.2:p.Phe202fs NC_000023.11:37796065:CTTACTT:CTTACTTACTT p.(Phe202LeufsTer3) NC_000023.11:37796065:CTTACTT:CTTACTTACTT p.(Phe202LeufsTer3) ERR:SPDI Analogous +NM_001289123.2:c.1325G>T NP_001276052.1:p.Arg442Leu NC_000019.10:6495326:C:A p.(Arg442Leu) NC_000019.10:6495326:C:A p.(Arg442Leu) NC_000019.10:6495326:C:A Identity +NM_001363670.2:c.70G>T NP_001350599.1:p.Asp24Tyr NC_000014.9:90401290:G:T p.(Asp24Tyr) NC_000014.9:90401290:G:T p.(Asp24Tyr) NC_000014.9:90401290:G:T Identity +NM_001256850.1:c.78619dup NP_001243779.1:p.Ile26207fs NC_000002.12:178562589:T:TT p.(Ile26207AsnfsTer6) NC_000002.12:178562589:T:TT p.(Ile26207AsnfsTer6) ERR:SPDI Analogous +NM_001301035.2:c.976_977del NP_001287964.1:p.Lys326fs NC_000019.10:42248909:TT: p.(Lys326GlufsTer10) NC_000019.10:42248909:TT: p.(Lys326GlufsTer10) NC_000019.10:42248909:TT: Analogous +NM_014244.5:c.655C>T NP_055059.2:p.Pro219Ser NC_000005.10:179272943:G:A p.(Pro219Ser) NC_000005.10:179272943:G:A p.(Pro219Ser) NC_000005.10:179272943:G:A Identity +NM_000546.6:c.358A>C NP_000537.3:p.Lys120Gln NC_000017.11:7676010:T:G p.(Lys120Gln) NC_000017.11:7676010:T:G p.(Lys120Gln) NC_000017.11:7676010:T:G Identity +NM_020247.5:c.1677C>A NP_064632.2:p.His559Gln NC_000001.11:226986469:C:A p.(His559Gln) NC_000001.11:226986469:C:A p.(His559Gln) NC_000001.11:226986469:C:A Identity +NM_001127487.2:c.7685C>T NP_001120959.1:p.Pro2562Leu NC_000007.14:128858010:C:T p.(Pro2562Leu) NC_000007.14:128858010:C:T p.(Pro2562Leu) NC_000007.14:128858010:C:T Identity +NM_000942.5:c.414_417dup NP_000933.1:p.Met140fs NC_000015.10:64156835:GCTC:GCTCGCTC p.(Met140GlufsTer54) NC_000015.10:64156835:GCTC:GCTCGCTC p.(Met140GlufsTer54) ERR:SPDI Analogous +NM_000059.4:c.4561_4563delinsATG NP_000050.3:p.Leu1521Met NC_000013.11:32338915:CTA:ATG p.(Leu1521Met) NC_000013.11:32338915:CTA:ATG p.(Leu1521Met) NC_000013.11:32338915:CTA:ATG Identity +NM_001363725.2:c.1713dup NP_001350654.1:p.Phe572fs NC_000006.12:157190187:CCCC:CCCCC p.(Phe572LeufsTer39) NC_000006.12:157190187:CCCC:CCCCC p.(Phe572LeufsTer39) ERR:SPDI Analogous +NM_032043.3:c.2573C>T NP_114432.2:p.Ser858Phe NC_000017.11:61693431:G:A p.(Ser858Phe) NC_000017.11:61693431:G:A p.(Ser858Phe) NC_000017.11:61693431:G:A Identity +NM_000109.4:c.2531G>A NP_000100.3:p.Trp844Ter NC_000023.11:32491343:C:T p.(Trp844Ter) NC_000023.11:32491343:C:T p.(Trp844Ter) NC_000023.11:32491343:C:T Identity +NM_001194937.2:c.2589del NP_001181866.1:p.Asn863fs NC_000001.11:151406418:A: p.(Asn863LysfsTer16) NC_000001.11:151406418:A: p.(Asn863LysfsTer16) NC_000001.11:151406418:A: Analogous +NM_001077365.2:c.1792C>T NP_001070833.1:p.Arg598Ter NC_000009.12:131521438:C:T p.(Arg598Ter) NC_000009.12:131521438:C:T p.(Arg598Ter) NC_000009.12:131521438:C:T Identity +NM_000303.3:c.337C>A NP_000294.1:p.Pro113Thr NC_000016.10:8806396:C:A p.(Pro113Thr) NC_000016.10:8806396:C:A p.(Pro113Thr) NC_000016.10:8806396:C:A Identity +NM_001282785.2:c.304A>G NP_001269714.1:p.Asn102Asp NC_000022.11:46343316:A:G p.(Asn102Asp) NC_000022.11:46343316:A:G p.(Asn102Asp) NC_000022.11:46343316:A:G Identity +NM_015657.4:c.1319dup NP_056472.2:p.Leu440fs NC_000002.12:215011497:AAAAAA:AAAAAAA p.(Leu440PhefsTer4) NC_000002.12:215011497:AAAAAA:AAAAAAA p.(Leu440PhefsTer4) ERR:SPDI Analogous +NM_006393.3:c.1613T>A NP_006384.1:p.Val538Glu NC_000010.11:20831253:A:T p.(Val538Glu) NC_000010.11:20831253:A:T p.(Val538Glu) NC_000010.11:20831253:A:T Identity +NM_018136.5:c.4216_4217delinsTT NP_060606.3:p.Ala1406Phe NC_000001.11:197105033:GC:AA p.(Ala1406Phe) NC_000001.11:197105033:GC:AA p.(Ala1406Phe) NC_000001.11:197105033:GC:AA Identity +NM_001363813.1:c.790A>G NP_001350742.1:p.Thr264Ala NC_000017.11:65557830:T:C p.(Thr264Ala) NC_000017.11:65557830:T:C p.(Thr264Ala) NC_000017.11:65557830:T:C Identity +NM_001127493.3:c.3479dup NP_001120965.1:p.Val1161fs NC_000004.12:113335970:GG:GGG p.(Val1161CysfsTer35) NC_000004.12:113335970:GG:GGG p.(Val1161CysfsTer35) ERR:SPDI Analogous +NM_000551.4:c.149C>T NP_000542.1:p.Ala50Val NC_000003.12:10141995:C:T p.(Ala50Val) NC_000003.12:10141995:C:T p.(Ala50Val) NC_000003.12:10141995:C:T Identity +NM_001040113.2:c.3022C>T NP_001035202.1:p.Arg1008Ter NC_000016.10:15738684:G:A p.(Arg1008Ter) NC_000016.10:15738684:G:A p.(Arg1008Ter) NC_000016.10:15738684:G:A Identity +NM_000162.5:c.355G>A NP_000153.1:p.Ala119Thr NC_000007.14:44152278:C:T p.(Ala119Thr) NC_000007.14:44152278:C:T p.(Ala119Thr) NC_000007.14:44152278:C:T Identity +NM_001031737.3:c.1112del NP_001026907.2:p.Gln371fs NC_000016.10:723877:T: p.(Gln371ArgfsTer46) NC_000016.10:723877:T: p.(Gln371ArgfsTer46) NC_000016.10:723877:T: Analogous +NM_017882.3:c.821C>T NP_060352.1:p.Ala274Val NC_000015.10:68208254:G:A p.(Ala274Val) NC_000015.10:68208254:G:A p.(Ala274Val) NC_000015.10:68208254:G:A Identity +NM_001194998.2:c.1116G>C NP_001181927.1:p.Glu372Asp NC_000015.10:48788857:C:G p.(Glu372Asp) NC_000015.10:48788857:C:G p.(Glu372Asp) NC_000015.10:48788857:C:G Identity +NM_000397.4:c.85del NP_000388.2:p.Tyr29fs NC_000023.11:37782126:T: p.(Tyr29IlefsTer32) NC_000023.11:37782126:T: p.(Tyr29IlefsTer32) NC_000023.11:37782126:T: Analogous +LRG_774t1:c.3298G>T LRG_774p1:p.Val1100Leu NC_000010.11:110602824:G:T ERR:Data provider error: ValueError: Transcript LRG_774t1 not found ERR:Data provider error: ValueError: Transcript LRG_774t1 not found ERR:AlignmentMapper(tx_ac=LRG_774t1, alt_ac=LRG_774t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_774t1, alt_ac=LRG_774t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_774t1 not found +NM_001005407.2:c.4837C>T NP_001005407.1:p.Leu1613Phe NC_000016.10:1213856:C:T p.(Leu1613Phe) NC_000016.10:1213856:C:T p.(Leu1613Phe) NC_000016.10:1213856:C:T Identity +NM_005654.6:c.1A>G NP_005645.1:p.Met1Val NC_000005.10:93585023:A:G p.(Met1Val) NC_000005.10:93585023:A:G p.Met1? NC_000005.10:93585023:A:G Identity +NM_001015877.2:c.875G>A NP_001015877.1:p.Cys292Tyr NC_000023.11:134417208:G:A p.(Cys292Tyr) NC_000023.11:134417208:G:A p.(Cys292Tyr) NC_000023.11:134417208:G:A Identity +NM_000465.4:c.1990A>G NP_000456.2:p.Arg664Gly NC_000002.12:214730421:T:C p.(Arg664Gly) NC_000002.12:214730421:T:C p.(Arg664Gly) NC_000002.12:214730421:T:C Identity +NM_001007188.4:c.1666G>A NP_001007189.1:p.Glu556Lys NC_000022.11:31815211:G:A p.(Glu556Lys) NC_000022.11:31815211:G:A p.(Glu556Lys) NC_000022.11:31815211:G:A Identity +NM_004518.6:c.1780C>T NP_004509.2:p.Arg594Trp NC_000020.11:63408435:G:A p.(Arg594Trp) NC_000020.11:63408435:G:A p.(Arg594Trp) NC_000020.11:63408435:G:A Identity +NM_001376.5:c.2155A>G NP_001367.2:p.Thr719Ala NC_000014.9:101986379:A:G p.(Thr719Ala) NC_000014.9:101986379:A:G p.(Thr719Ala) NC_000014.9:101986379:A:G Identity +LRG_1122t1:c.328C>T LRG_1122p1:p.Pro110Ser NC_000009.12:136523791:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_005249.5:c.585_586delinsTT NP_005240.3:p.Gln196Ter NC_000014.9:28767863:GC:TT p.(Gln196Ter) NC_000014.9:28767863:GC:TT p.(Gln196Ter) NC_000014.9:28767863:GC:TT Identity +NM_000204.5:c.500G>A NP_000195.3:p.Arg167Lys NC_000004.12:109761674:C:T p.(Arg167Lys) NC_000004.12:109761674:C:T p.(Arg167Lys) NC_000004.12:109761674:C:T Identity +NM_000108.5:c.209T>C NP_000099.2:p.Ile70Thr NC_000007.14:107902334:T:C p.(Ile70Thr) NC_000007.14:107902334:T:C p.(Ile70Thr) NC_000007.14:107902334:T:C Identity +NM_000742.4:c.433A>G NP_000733.2:p.Ile145Val NC_000008.11:27467244:T:C p.(Ile145Val) NC_000008.11:27467244:T:C p.(Ile145Val) NC_000008.11:27467244:T:C Identity +NM_001407853.1:c.2617T>A NP_001394782.1:p.Cys873Ser NC_000017.11:43092700:A:T p.(Cys873Ser) NC_000017.11:43092700:A:T p.(Cys873Ser) NC_000017.11:43092700:A:T Identity +LRG_646t1:c.910C>T LRG_646p1:p.Arg304Trp NC_000011.10:128810637:C:T ERR:Data provider error: ValueError: Transcript LRG_646t1 not found ERR:Data provider error: ValueError: Transcript LRG_646t1 not found ERR:AlignmentMapper(tx_ac=LRG_646t1, alt_ac=LRG_646t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_646t1, alt_ac=LRG_646t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_646t1 not found +NM_001257361.2:c.988G>A NP_001244290.1:p.Val330Met NC_000001.11:109628181:G:A p.(Val330Met) NC_000001.11:109628181:G:A p.(Val330Met) NC_000001.11:109628181:G:A Identity +NM_000204.5:c.454G>A NP_000195.3:p.Val152Met NC_000004.12:109764564:C:T p.(Val152Met) NC_000004.12:109764564:C:T p.(Val152Met) NC_000004.12:109764564:C:T Identity +NM_000249.4:c.150_153del NP_000240.1:p.Val51fs NC_000003.12:36996650:TTGTT:T p.(Val51LysfsTer5) NC_000003.12:36996650:TTGTT:T p.(Val51LysfsTer5) NC_000003.12:36996651:TGTT: Analogous +NM_001005242.3:c.2180_2181del NP_001005242.2:p.Leu727fs NC_000012.12:32796284:GAGAG:GAG p.(Leu727ProfsTer2) NC_000012.12:32796284:GAGAG:GAG p.(Leu727ProfsTer2) NC_000012.12:32796284:GA: Analogous +NM_001135659.3:c.3889C>T NP_001129131.1:p.Arg1297Ter NC_000002.12:50054993:G:A p.(Arg1297Ter) NC_000002.12:50054993:G:A p.(Arg1297Ter) NC_000002.12:50054993:G:A Identity +NM_001005336.3:c.1037G>T NP_001005336.1:p.Gly346Val NC_000009.12:128222504:G:T p.(Gly346Val) NC_000009.12:128222504:G:T p.(Gly346Val) NC_000009.12:128222504:G:T Identity +NM_001407571.1:c.3622G>T NP_001394500.1:p.Ala1208Ser NC_000017.11:43091695:C:A p.(Ala1208Ser) NC_000017.11:43091695:C:A p.(Ala1208Ser) NC_000017.11:43091695:C:A Identity +NM_000179.3:c.3744_3753dup NP_000170.1:p.Val1253fs NC_000002.12:47806297:TCACTACCATTCA:TCACTACCATTCACTACCATTCA p.(Val1253ProfsTer25) NC_000002.12:47806297:TCACTACCATTCA:TCACTACCATTCACTACCATTCA p.(Val1253ProfsTer25) ERR:SPDI Analogous +NM_000444.6:c.332_334del NP_000435.3:p.Val111del NC_000023.11:22047191:TGTTG:TG p.(Val111del) NC_000023.11:22047191:TGTTG:TG p.(Val111del) NC_000023.11:22047193:TTG: Identity +NM_004360.5:c.1202C>A NP_004351.1:p.Ala401Asp NC_000016.10:68813376:C:A p.(Ala401Asp) NC_000016.10:68813376:C:A p.(Ala401Asp) NC_000016.10:68813376:C:A Identity +NM_001376.5:c.13360G>A NP_001367.2:p.Glu4454Lys NC_000014.9:102048656:G:A p.(Glu4454Lys) NC_000014.9:102048656:G:A p.(Glu4454Lys) NC_000014.9:102048656:G:A Identity +LRG_1t1:c.2549del LRG_1p1:p.Pro850fs NC_000017.11:50190010:GGGGG:GGGG ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1t1 not found +LRG_1254t1:c.1419C>G LRG_1254p1:p.Ile473Met NC_000017.11:4898798:G:C ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found ERR:AlignmentMapper(tx_ac=LRG_1254t1, alt_ac=LRG_1254t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1254t1, alt_ac=LRG_1254t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found +NM_000088.4:c.3897C>G NP_000079.2:p.Cys1299Trp NC_000017.11:50186424:G:C p.(Cys1299Trp) NC_000017.11:50186424:G:C p.(Cys1299Trp) NC_000017.11:50186424:G:C Identity +NM_001163817.2:c.1267G>A NP_001157289.1:p.Gly423Ser NC_000011.10:71435535:C:T p.(Gly423Ser) NC_000011.10:71435535:C:T p.(Gly423Ser) NC_000011.10:71435535:C:T Identity +NM_001145901.2:c.1382G>A NP_001139373.1:p.Arg461His NC_000019.10:38915877:C:T p.(Arg461His) NC_000019.10:38915877:C:T p.(Arg461His) NC_000019.10:38915877:C:T Identity +LRG_712t1:c.1424C>A LRG_712p1:p.S475* NC_000002.12:202552725:C:A ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +LRG_712t1:c.2291dup LRG_712p1:p.N764Kfs*49 NC_000002.12:202555951:AAAAA:AAAAAA ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +NM_001195248.2:c.697A>T NP_001182177.2:p.Lys233Ter NC_000009.12:32984703:T:A p.(Lys233Ter) NC_000009.12:32984703:T:A p.(Lys233Ter) NC_000009.12:32984703:T:A Identity +NM_001330990.2:c.2269C>T NP_001317919.1:p.Arg757Cys NC_000003.12:47848245:C:T p.(Arg757Cys) NC_000003.12:47848245:C:T p.(Arg757Cys) NC_000003.12:47848245:C:T Identity +NM_001037343.2:c.258C>G NP_001032420.1:p.Tyr86Ter NC_000023.11:18575465:C:G p.(Tyr86Ter) NC_000023.11:18575465:C:G p.(Tyr86Ter) NC_000023.11:18575465:C:G Identity +NM_001165255.2:c.249A>C NP_001158727.1:p.Lys83Asn NC_000007.14:157005840:T:G p.(Lys83Asn) NC_000007.14:157005840:T:G p.(Lys83Asn) NC_000007.14:157005840:T:G Identity +NM_058216.3:c.803A>G NP_478123.1:p.Gln268Arg NC_000017.11:58709955:A:G p.(Gln268Arg) NC_000017.11:58709955:A:G p.(Gln268Arg) NC_000017.11:58709955:A:G Identity +NM_005431.2:c.527G>A NP_005422.1:p.Cys176Tyr NC_000007.14:152648957:C:T p.(Cys176Tyr) NC_000007.14:152648957:C:T p.(Cys176Tyr) NC_000007.14:152648957:C:T Identity +NM_000251.3:c.743A>G NP_000242.1:p.Lys248Arg NC_000002.12:47412510:A:G p.(Lys248Arg) NC_000002.12:47412510:A:G p.(Lys248Arg) NC_000002.12:47412510:A:G Identity +NM_024675.4:c.3054G>T NP_078951.2:p.Glu1018Asp NC_000016.10:23621420:C:A p.(Glu1018Asp) NC_000016.10:23621420:C:A p.(Glu1018Asp) NC_000016.10:23621420:C:A Identity +NM_001256442.2:c.580G>A NP_001243371.1:p.Glu194Lys NC_000016.10:29813633:G:A p.(Glu194Lys) NC_000016.10:29813633:G:A p.(Glu194Lys) NC_000016.10:29813633:G:A Identity +NM_000425.5:c.1028_1032dup NP_000416.1:p.Gly345fs NC_000023.11:153869893:ATATA:ATATAATATA p.(Gly345TyrfsTer47) NC_000023.11:153869893:ATATA:ATATAATATA p.(Gly345TyrfsTer47) ERR:SPDI Analogous +NM_000251.3:c.440T>G NP_000242.1:p.Val147Gly NC_000002.12:47410166:T:G p.(Val147Gly) NC_000002.12:47410166:T:G p.(Val147Gly) NC_000002.12:47410166:T:G Identity +NM_001010867.4:c.833G>T NP_001010867.1:p.Arg278Leu NC_000001.11:228175274:G:T p.(Arg278Leu) NC_000001.11:228175274:G:T p.(Arg278Leu) NC_000001.11:228175274:G:T Identity +NM_000302.4:c.1960A>T NP_000293.2:p.Met654Leu NC_000001.11:11972928:A:T p.(Met654Leu) NC_000001.11:11972928:A:T p.(Met654Leu) NC_000001.11:11972928:A:T Identity +NM_001377289.1:c.1985C>T NP_001364218.1:p.Pro662Leu NC_000006.12:70216978:G:A p.(Pro662Leu) NC_000006.12:70216978:G:A p.(Pro662Leu) NC_000006.12:70216978:G:A Identity +NM_001182.5:c.589C>T NP_001173.2:p.Pro197Ser NC_000005.10:126577139:G:A p.(Pro197Ser) NC_000005.10:126577139:G:A p.(Pro197Ser) NC_000005.10:126577139:G:A Identity +NM_024675.4:c.2836G>A NP_078951.2:p.Ala946Thr NC_000016.10:23623128:C:T p.(Ala946Thr) NC_000016.10:23623128:C:T p.(Ala946Thr) NC_000016.10:23623128:C:T Identity +NM_000059.4:c.5298_5301del NP_000050.3:p.Lys1767fs NC_000013.11:32339649:AAATAAA:AAA p.(Lys1767LeufsTer9) NC_000013.11:32339649:AAATAAA:AAA p.(Lys1767LeufsTer9) NC_000013.11:32339652:TAAA: Analogous +LRG_1256t1:c.398del LRG_1256p1:p.Pro133fs NC_000011.10:44309664:GGGGG:GGGG ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found ERR:AlignmentMapper(tx_ac=LRG_1256t1, alt_ac=LRG_1256t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1256t1, alt_ac=LRG_1256t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1256t1 not found +NM_001164716.1:c.208C>T NP_001158188.1:p.Arg70Cys NC_000011.10:64759690:G:A p.(Arg70Cys) NC_000011.10:64759690:G:A p.(Arg70Cys) NC_000011.10:64759690:G:A Identity +NM_022114.4:c.3139C>A NP_071397.3:p.His1047Asn NC_000001.11:3426079:C:A p.(His1047Asn) NC_000001.11:3426079:C:A p.(His1047Asn) NC_000001.11:3426079:C:A Identity +NM_001127493.3:c.1345A>G NP_001120965.1:p.Met449Val NC_000004.12:113264917:A:G p.(Met449Val) NC_000004.12:113264917:A:G p.(Met449Val) NC_000004.12:113264917:A:G Identity +NM_001163636.3:c.356A>G NP_001157108.1:p.Tyr119Cys NC_000007.14:74699077:A:G p.(Tyr119Cys) NC_000007.14:74699077:A:G p.(Tyr119Cys) NC_000007.14:74699077:A:G Identity +NM_000334.4:c.4517A>T NP_000325.4:p.Tyr1506Phe NC_000017.11:63941764:T:A p.(Tyr1506Phe) NC_000017.11:63941764:T:A p.(Tyr1506Phe) NC_000017.11:63941764:T:A Identity +NM_001372044.2:c.2553del NP_001358973.1:p.Ile852fs NC_000022.11:50715727:GGGG:GGG p.(Ala852ArgfsTer103) NC_000022.11:50720199:GG:G p.(Ala852ArgfsTer103) NC_000022.11:50720199:G: Analogous +NM_000445.5:c.4420C>T NP_000436.2:p.Arg1474Trp NC_000008.11:143925589:G:A p.(Arg1474Trp) NC_000008.11:143925589:G:A p.(Arg1474Trp) NC_000008.11:143925589:G:A Identity +NM_001354263.2:c.2929C>T NP_001341192.1:p.Gln977Ter NC_000009.12:137813087:C:T p.(Gln977Ter) NC_000009.12:137813087:C:T p.(Gln977Ter) NC_000009.12:137813087:C:T Identity +NM_000748.3:c.97G>A NP_000739.1:p.Val33Met NC_000001.11:154569493:G:A p.(Val33Met) NC_000001.11:154569493:G:A p.(Val33Met) NC_000001.11:154569493:G:A Identity +NM_002485.5:c.145A>C NP_002476.2:p.Thr49Pro NC_000008.11:89982747:T:G p.(Thr49Pro) NC_000008.11:89982747:T:G p.(Thr49Pro) NC_000008.11:89982747:T:G Identity +NM_019098.5:c.1005dup NP_061971.3:p.Glu336Ter NC_000008.11:86644671:AAAAAA:AAAAAAA p.(Glu336Ter) NC_000008.11:86644671:AAAAAA:AAAAAAA p.(Glu336Ter) ERR:SPDI Identity +NM_001014987.2:c.44dup NP_001014987.1:p.Leu16fs NC_000016.10:28985460:T:TT p.(Leu16AlafsTer28) NC_000016.10:28985460:T:TT p.(Leu16AlafsTer28) ERR:SPDI Analogous +NM_001034850.3:c.809A>C NP_001030022.1:p.Glu270Ala NC_000005.10:16478097:T:G p.(Glu270Ala) NC_000005.10:16478097:T:G p.(Glu270Ala) NC_000005.10:16478097:T:G Identity +NM_000251.3:c.735G>T NP_000242.1:p.Leu245Phe NC_000002.12:47412502:G:T p.(Leu245Phe) NC_000002.12:47412502:G:T p.(Leu245Phe) NC_000002.12:47412502:G:T Identity +NM_053025.4:c.159dup NP_444253.3:p.Gly54fs NC_000003.12:123793682:TT:TTT p.(Gly54ArgfsTer45) NC_000003.12:123793682:TT:TTT p.(Gly54ArgfsTer45) ERR:SPDI Analogous +NM_001170629.2:c.6947del NP_001164100.1:p.Pro2316fs NC_000014.9:21391580:GGG:GG p.(Pro2316LeufsTer39) NC_000014.9:21391580:GGG:GG p.(Pro2316LeufsTer39) NC_000014.9:21391580:G: Analogous +NM_005751.5:c.2478A>G NP_005742.4:p.Ile826Met NC_000007.14:92002394:A:G p.(Ile826Met) NC_000007.14:92002394:A:G p.(Ile826Met) NC_000007.14:92002394:A:G Identity +NM_000038.6:c.6588A>C NP_000029.2:p.Lys2196Asn NC_000005.10:112842181:A:C p.(Lys2196Asn) NC_000005.10:112842181:A:C p.(Lys2196Asn) NC_000005.10:112842181:A:C Identity +NM_000445.5:c.9922G>A NP_000436.2:p.Val3308Met NC_000008.11:143919979:C:T p.(Val3308Met) NC_000008.11:143919979:C:T p.(Val3308Met) NC_000008.11:143919979:C:T Identity +NM_001204824.2:c.1423T>C NP_001191753.1:p.Ser475Pro NC_000008.11:132134305:A:G p.(Ser475Pro) NC_000008.11:132134305:A:G p.(Ser475Pro) NC_000008.11:132134305:A:G Identity +NM_014141.6:c.760A>G NP_054860.1:p.Asn254Asp NC_000007.14:147120983:A:G p.(Asn254Asp) NC_000007.14:147120983:A:G p.(Asn254Asp) NC_000007.14:147120983:A:G Identity +NM_024408.4:c.5518G>A NP_077719.2:p.Gly1840Ser NC_000001.11:119919574:C:T p.(Gly1840Ser) NC_000001.11:119919574:C:T p.(Gly1840Ser) NC_000001.11:119919574:C:T Identity +NM_000368.5:c.637dup NP_000359.1:p.Leu213fs NC_000009.12:132921844:GG:GGG p.(Leu213ProfsTer5) NC_000009.12:132921844:GG:GGG p.(Leu213ProfsTer5) ERR:SPDI Analogous +NM_000179.3:c.260G>C NP_000170.1:p.Ser87Thr NC_000002.12:47783492:G:C p.(Ser87Thr) NC_000002.12:47783492:G:C p.(Ser87Thr) NC_000002.12:47783492:G:C Identity +NM_000179.3:c.1289G>T NP_000170.1:p.Gly430Val NC_000002.12:47799271:G:T p.(Gly430Val) NC_000002.12:47799271:G:T p.(Gly430Val) NC_000002.12:47799271:G:T Identity +NM_005334.3:c.4619C>T NP_005325.2:p.Thr1540Ile NC_000023.11:153952836:G:A p.(Thr1540Ile) NC_000023.11:153952836:G:A p.(Thr1540Ile) NC_000023.11:153952836:G:A Identity +NM_000251.3:c.465_466delinsA NP_000242.1:p.Asp156fs NC_000002.12:47410191:TG:A p.(Asp156MetfsTer18) NC_000002.12:47410191:TG:A p.(Asp156MetfsTer18) NC_000002.12:47410191:TG:A Analogous +NM_000411.8:c.1544G>A NP_000402.3:p.Ser515Asn NC_000021.9:36765147:C:T p.(Ser515Asn) NC_000021.9:36765147:C:T p.(Ser515Asn) NC_000021.9:36765147:C:T Identity +NM_000059.4:c.6923A>C NP_000050.3:p.Lys2308Thr NC_000013.11:32344638:A:C p.(Lys2308Thr) NC_000013.11:32344638:A:C p.(Lys2308Thr) NC_000013.11:32344638:A:C Identity +NM_001318785.2:c.815_840del NP_001305714.1:p.Phe272fs NC_000006.12:87518679:ACTCTGGAAAACACGATCCCAGCTGAACT:ACT p.(Phe272SerfsTer29) NC_000006.12:87518679:ACTCTGGAAAACACGATCCCAGCTGAACT:ACT p.(Phe272SerfsTer29) NC_000006.12:87518679:ACTCTGGAAAACACGATCCCAGCTGA: Analogous +NM_000388.4:c.499T>A NP_000379.3:p.Tyr167Asn NC_000003.12:122261533:T:A p.(Tyr167Asn) NC_000003.12:122261533:T:A p.(Tyr167Asn) NC_000003.12:122261533:T:A Identity +NM_003188.4:c.319G>A NP_003179.1:p.Ala107Thr NC_000006.12:90561645:C:T p.(Ala107Thr) NC_000006.12:90561645:C:T p.(Ala107Thr) NC_000006.12:90561645:C:T Identity +NM_024675.4:c.2014G>A NP_078951.2:p.Glu672Lys NC_000016.10:23630139:C:T p.(Glu672Lys) NC_000016.10:23630139:C:T p.(Glu672Lys) NC_000016.10:23630139:C:T Identity +NM_001316690.1:c.1264A>G NP_001303619.1:p.Met422Val NC_000008.11:60742695:A:G p.(Met422Val) NC_000008.11:60742695:A:G p.(Met422Val) NC_000008.11:60742695:A:G Identity +NM_001170629.2:c.181T>C NP_001164100.1:p.Ser61Pro NC_000014.9:21431462:A:G p.(Ser61Pro) NC_000014.9:21431462:A:G p.(Ser61Pro) NC_000014.9:21431462:A:G Identity +NM_001282539.2:c.266A>G NP_001269468.1:p.Lys89Arg NC_000001.11:1806475:T:C p.(Lys89Arg) NC_000001.11:1806475:T:C p.(Lys89Arg) NC_000001.11:1806475:T:C Identity +NM_004990.4:c.1031A>G NP_004981.2:p.Tyr344Cys NC_000012.12:57498562:A:G p.(Tyr344Cys) NC_000012.12:57498562:A:G p.(Tyr344Cys) NC_000012.12:57498562:A:G Identity +NM_000372.5:c.1276_1282del NP_000363.1:p.Met426fs NC_000011.10:89284862:CATGGTTC:C p.(Met426LeufsTer57) NC_000011.10:89284862:CATGGTTC:C p.(Met426LeufsTer57) NC_000011.10:89284863:ATGGTTC: Analogous +NM_001283009.2:c.2956C>T NP_001269938.1:p.Arg986Ter NC_000020.11:63693246:C:T p.(Arg986Ter) NC_000020.11:63693246:C:T p.(Arg986Ter) NC_000020.11:63693246:C:T Identity +NM_000179.3:c.3257C>A NP_000170.1:p.Pro1086His NC_000002.12:47803503:C:A p.(Pro1086His) NC_000002.12:47803503:C:A p.(Pro1086His) NC_000002.12:47803503:C:A Identity +NM_005559.4:c.3124C>T NP_005550.2:p.Gln1042Ter NC_000018.10:7015723:G:A p.(Gln1042Ter) NC_000018.10:7015723:G:A p.(Gln1042Ter) NC_000018.10:7015723:G:A Identity +NM_004329.3:c.160del NP_004320.2:p.Asp54fs NC_000010.11:86890152:GG:G p.(Asp54IlefsTer6) NC_000010.11:86890152:GG:G p.(Asp54IlefsTer6) NC_000010.11:86890153:G: Analogous +NM_020884.7:c.2238del NP_065935.4:p.Lys747fs NC_000020.11:34993154:GG:G p.(Lys747ArgfsTer31) NC_000020.11:34993154:GG:G p.(Lys747ArgfsTer31) NC_000020.11:34993155:G: Analogous +NM_001130916.3:c.617A>C NP_001124388.1:p.His206Pro NC_000009.12:99142577:A:C p.(His206Pro) NC_000009.12:99142577:A:C p.(His206Pro) NC_000009.12:99142577:A:C Identity +NM_000179.3:c.2021G>T NP_000170.1:p.Gly674Val NC_000002.12:47800003:G:T p.(Gly674Val) NC_000002.12:47800003:G:T p.(Gly674Val) NC_000002.12:47800003:G:T Identity +NM_000251.3:c.562G>C NP_000242.1:p.Glu188Gln NC_000002.12:47410288:G:C p.(Glu188Gln) NC_000002.12:47410288:G:C p.(Glu188Gln) NC_000002.12:47410288:G:C Identity +NM_001317184.2:c.315del NP_001304113.1:p.Thr106fs NC_000016.10:68801819:CC:C p.(Thr106ProfsTer11) NC_000016.10:68801819:CC:C p.(Thr106ProfsTer11) NC_000016.10:68801820:C: Analogous +NM_001999.4:c.8035G>A NP_001990.2:p.Ala2679Thr NC_000005.10:128263581:C:T p.(Ala2679Thr) NC_000005.10:128263581:C:T p.(Ala2679Thr) NC_000005.10:128263581:C:T Identity +NM_001256850.1:c.48676G>T NP_001243779.1:p.Glu16226Ter NC_000002.12:178605695:C:A p.(Glu16226Ter) NC_000002.12:178605695:C:A p.(Glu16226Ter) NC_000002.12:178605695:C:A Identity +LRG_712t1:c.1456C>T LRG_712p1:p.Q486* NC_000002.12:202552757:C:T ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +LRG_712t1:c.1771C>T LRG_712p1:p.R591* NC_000002.12:202555435:C:T ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +LRG_712t1:c.2410_2413del LRG_712p1:p.V804Pfs*2 NC_000002.12:202556072:CAGTCA:CA ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:Data provider error: ValueError: Transcript LRG_712t1 not found ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_712t1, alt_ac=LRG_712t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_712t1 not found +NM_001040436.3:c.1106G>A NP_001035526.1:p.Cys369Tyr NC_000012.12:32750104:C:T p.(Cys369Tyr) NC_000012.12:32750104:C:T p.(Cys369Tyr) NC_000012.12:32750104:C:T Identity +NM_001008844.3:c.2T>G NP_001008844.1:p.Met1Arg NC_000006.12:7541916:T:G p.(Met1Arg) NC_000006.12:7541916:T:G p.Met1? NC_000006.12:7541916:T:G Identity +NM_000138.5:c.6332G>A NP_000129.3:p.Cys2111Tyr NC_000015.10:48437368:C:T p.(Cys2111Tyr) NC_000015.10:48437368:C:T p.(Cys2111Tyr) NC_000015.10:48437368:C:T Identity +NM_000098.3:c.1519G>A NP_000089.1:p.Val507Ile NC_000001.11:53211192:G:A p.(Val507Ile) NC_000001.11:53211192:G:A p.(Val507Ile) NC_000001.11:53211192:G:A Identity +NM_001177428.1:c.326A>G NP_001170899.1:p.Asp109Gly NC_000012.12:109814470:T:C p.(Asp109Gly) NC_000012.12:109814470:T:C p.(Asp109Gly) NC_000012.12:109814470:T:C Identity +NM_001243251.2:c.7G>C NP_001230180.1:p.Gly3Arg NC_000011.10:78528842:C:G p.(Gly3Arg) NC_000011.10:78528842:C:G p.(Gly3Arg) NC_000011.10:78528842:C:G Identity +NM_003331.5:c.1444C>G NP_003322.3:p.Arg482Gly NC_000019.10:10362580:G:C p.(Arg482Gly) NC_000019.10:10362580:G:C p.(Arg482Gly) NC_000019.10:10362580:G:C Identity +NM_022114.4:c.2126T>C NP_071397.3:p.Met709Thr NC_000001.11:3412322:T:C p.(Met709Thr) NC_000001.11:3412322:T:C p.(Met709Thr) NC_000001.11:3412322:T:C Identity +NM_000088.4:c.162del NP_000079.2:p.Lys54fs NC_000017.11:50199888:TTT:TT p.(Lys54AsnfsTer20) NC_000017.11:50199888:TTT:TT p.(Lys54AsnfsTer20) NC_000017.11:50199888:T: Analogous +NM_000135.4:c.4117A>G NP_000126.2:p.Thr1373Ala NC_000016.10:89739182:T:C p.(Thr1373Ala) NC_000016.10:89739182:T:C p.(Thr1373Ala) NC_000016.10:89739182:T:C Identity +NM_000068.4:c.3115dup NP_000059.3:p.Ser1039fs NC_000019.10:13286952:A:AA p.(Ser1039PhefsTer32) NC_000019.10:13286952:A:AA p.(Ser1039PhefsTer32) ERR:SPDI Analogous +NM_001142800.2:c.6547A>G NP_001136272.1:p.Ser2183Gly NC_000006.12:64081879:T:C p.(Ser2183Gly) NC_000006.12:64081879:T:C p.(Ser2183Gly) NC_000006.12:64081879:T:C Identity +NM_001288781.1:c.1099C>T NP_001275710.1:p.Arg367Trp NC_000014.9:88871549:C:T p.(Arg367Trp) NC_000014.9:88871549:C:T p.(Arg367Trp) NC_000014.9:88871549:C:T Identity +NM_000086.2:c.767C>T NP_000077.1:p.Thr256Ile NC_000016.10:28484028:G:A p.(Thr256Ile) NC_000016.10:28484028:G:A p.(Thr256Ile) NC_000016.10:28484028:G:A Identity +LRG_1389t1:c.5614C>G LRG_1389p1:p.Arg1872Gly NC_000012.12:51807099:C:G ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found +NM_000093.5:c.467G>A NP_000084.3:p.Arg156Gln NC_000009.12:134700097:G:A p.(Arg156Gln) NC_000009.12:134700097:G:A p.(Arg156Gln) NC_000009.12:134700097:G:A Identity +NM_000018.4:c.1748C>G NP_000009.1:p.Ser583Trp NC_000017.11:7224710:C:G p.(Ser583Trp) NC_000017.11:7224710:C:G p.(Ser583Trp) NC_000017.11:7224710:C:G Identity +NM_001384880.1:c.876C>A NP_001371809.1:p.Asp292Glu NC_000002.12:190995128:G:T p.(Asp292Glu) NC_000002.12:190995128:G:T p.(Asp292Glu) NC_000002.12:190995128:G:T Identity +NM_001202554.2:c.1369C>T NP_001189483.1:p.Leu457Phe NC_000001.11:26797730:C:T p.(Leu457Phe) NC_000001.11:26797730:C:T p.(Leu457Phe) NC_000001.11:26797730:C:T Identity +NM_001003800.2:c.1646C>T NP_001003800.1:p.Pro549Leu NC_000009.12:92718998:G:A p.(Pro549Leu) NC_000009.12:92718998:G:A p.(Pro549Leu) NC_000009.12:92718998:G:A Identity +NM_000546.6:c.560G>A NP_000537.3:p.Gly187Asp NC_000017.11:7674970:C:T p.(Gly187Asp) NC_000017.11:7674970:C:T p.(Gly187Asp) NC_000017.11:7674970:C:T Identity +NM_001353765.2:c.1632G>C NP_001340694.1:p.Lys544Asn NC_000002.12:29193250:C:G p.(Lys544Asn) NC_000002.12:29193250:C:G p.(Lys544Asn) NC_000002.12:29193250:C:G Identity +NM_001166111.2:c.1597G>A NP_001159583.1:p.Ala533Thr NC_000019.10:7543045:G:A p.(Ala533Thr) NC_000019.10:7543045:G:A p.(Ala533Thr) NC_000019.10:7543045:G:A Identity +NM_001145102.2:c.499G>A NP_001138574.1:p.Gly167Arg NC_000015.10:67181395:G:A p.(Gly167Arg) NC_000015.10:67181395:G:A p.(Gly167Arg) NC_000015.10:67181395:G:A Identity +NM_000388.4:c.92A>G NP_000379.3:p.Asp31Gly NC_000003.12:122254280:A:G p.(Asp31Gly) NC_000003.12:122254280:A:G p.(Asp31Gly) NC_000003.12:122254280:A:G Identity +NM_000051.4:c.1790C>T NP_000042.3:p.Pro597Leu NC_000011.10:108252018:C:T p.(Pro597Leu) NC_000011.10:108252018:C:T p.(Pro597Leu) NC_000011.10:108252018:C:T Identity +NM_000381.4:c.1562G>A NP_000372.1:p.Arg521His NC_000023.11:10454962:C:T p.(Arg521His) NC_000023.11:10454962:C:T p.(Arg521His) NC_000023.11:10454962:C:T Identity +NM_001999.4:c.49G>A NP_001990.2:p.Gly17Ser NC_000005.10:128537554:C:T p.(Gly17Ser) NC_000005.10:128537554:C:T p.(Gly17Ser) NC_000005.10:128537554:C:T Identity +NM_006796.3:c.580C>T NP_006787.2:p.Arg194Cys NC_000018.10:12363828:G:A p.(Arg194Cys) NC_000018.10:12363828:G:A p.(Arg194Cys) NC_000018.10:12363828:G:A Identity +NM_014252.4:c.91G>C NP_055067.1:p.Asp31His NC_000013.11:40799091:G:C p.(Asp31His) NC_000013.11:40799091:G:C p.(Asp31His) NC_000013.11:40799091:G:C Identity +NM_000314.8:c.271_272delinsTTT NP_000305.3:p.Glu91fs NC_000010.11:87933029:GA:TTT p.(Glu91PhefsTer4) NC_000010.11:87933029:GA:TTT p.(Glu91PhefsTer4) NC_000010.11:87933029:GA:TTT Analogous +NM_001382235.1:c.329_332del NP_001369164.1:p.Ser110fs NC_000020.11:63446801:ACAGACAG:ACAG p.(Ser110CysfsTer22) NC_000020.11:63446801:ACAGACAG:ACAG p.(Ser110CysfsTer22) NC_000020.11:63446801:ACAG: Analogous +NM_000264.5:c.2701C>T NP_000255.2:p.Gln901Ter NC_000009.12:95461857:G:A p.(Gln901Ter) NC_000009.12:95461857:G:A p.(Gln901Ter) NC_000009.12:95461857:G:A Identity +NM_001040142.2:c.620T>G NP_001035232.1:p.Phe207Cys NC_000002.12:165309365:T:G p.(Phe207Cys) NC_000002.12:165309365:T:G p.(Phe207Cys) NC_000002.12:165309365:T:G Identity +NM_000216.4:c.1883C>T NP_000207.2:p.Thr628Ile NC_000023.11:8534419:G:A p.(Thr628Ile) NC_000023.11:8534419:G:A p.(Thr628Ile) NC_000023.11:8534419:G:A Identity +LRG_1264t1:c.1498G>C LRG_1264p1:p.Asp500His NC_000017.11:8076208:C:G ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found +NM_004304.5:c.1753G>A NP_004295.2:p.Ala585Thr NC_000002.12:29296951:C:T p.(Ala585Thr) NC_000002.12:29296951:C:T p.(Ala585Thr) NC_000002.12:29296951:C:T Identity +NM_001164507.2:c.5153A>T NP_001157979.2:p.Gln1718Leu NC_000002.12:151665417:T:A p.(Gln1718Leu) NC_000002.12:151665417:T:A p.(Gln1718Leu) NC_000002.12:151665417:T:A Identity +NM_001365276.2:c.10369G>T NP_001352205.1:p.Val3457Leu NC_000006.12:32046411:C:A p.(Val3457Leu) NC_000006.12:32046411:C:A p.(Val3457Leu) NC_000006.12:32046411:C:A Identity +LRG_1250t1:c.7C>G LRG_1250p1:p.Pro3Ala NC_000023.11:77899559:C:G ERR:Data provider error: ValueError: Transcript LRG_1250t1 not found ERR:Data provider error: ValueError: Transcript LRG_1250t1 not found ERR:AlignmentMapper(tx_ac=LRG_1250t1, alt_ac=LRG_1250t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1250t1, alt_ac=LRG_1250t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1250t1 not found +NM_001018056.3:c.82G>A NP_001018066.1:p.Gly28Arg NC_000009.12:2622270:G:A p.(Gly28Arg) NC_000009.12:2622270:G:A p.(Gly28Arg) NC_000009.12:2622270:G:A Identity +NM_000153.4:c.1897dup NP_000144.2:p.Thr633fs NC_000014.9:87939918:T:TT p.(Thr633AsnfsTer5) NC_000014.9:87939918:T:TT p.(Thr633AsnfsTer5) ERR:SPDI Analogous +NM_001367624.2:c.1072C>T NP_001354553.1:p.Pro358Ser NC_000016.10:88428541:C:T p.(Pro358Ser) NC_000016.10:88428541:C:T p.(Pro358Ser) NC_000016.10:88428541:C:T Identity +NM_001367624.2:c.10067T>G NP_001354553.1:p.Leu3356Arg NC_000016.10:88437536:T:G p.(Leu3356Arg) NC_000016.10:88437536:T:G p.(Leu3356Arg) NC_000016.10:88437536:T:G Identity +NM_001302884.2:c.467dup NP_001289813.1:p.Tyr156Ter NC_000009.12:97441708:A:AA p.(Tyr156Ter) NC_000009.12:97441708:A:AA p.(Tyr156Ter) ERR:SPDI Identity +NM_015335.5:c.2911_2914del NP_056150.1:p.Leu971fs NC_000012.12:115996557:ACAGACAG:ACAG p.(Leu971PhefsTer36) NC_000012.12:115996557:ACAGACAG:ACAG p.(Leu971PhefsTer36) NC_000012.12:115996557:ACAG: Analogous +NM_001844.5:c.2491G>A NP_001835.3:p.Gly831Arg NC_000012.12:47980940:C:T p.(Gly831Arg) NC_000012.12:47980940:C:T p.(Gly831Arg) NC_000012.12:47980940:C:T Identity +LRG_870t1:c.6895G>C LRG_870p1:p.Gly2299Arg NC_000007.14:128854579:G:C ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_870t1 not found +NM_000789.4:c.412C>T NP_000780.1:p.Gln138Ter NC_000017.11:63478092:C:T p.(Gln138Ter) NC_000017.11:63478092:C:T p.(Gln138Ter) NC_000017.11:63478092:C:T Identity +NM_001145408.2:c.1289del NP_001138880.1:p.Pro430fs NC_000023.11:71299947:CC:C p.(Pro430GlnfsTer54) NC_000023.11:71299947:CC:C p.(Pro430GlnfsTer54) NC_000023.11:71299948:C: Analogous +NM_000162.5:c.137G>T NP_000153.1:p.Arg46Met NC_000007.14:44153371:C:A p.(Arg46Met) NC_000007.14:44153371:C:A p.(Arg46Met) NC_000007.14:44153371:C:A Identity +NM_001318785.2:c.917A>G NP_001305714.1:p.Tyr306Cys NC_000006.12:87518237:T:C p.(Tyr306Cys) NC_000006.12:87518237:T:C p.(Tyr306Cys) NC_000006.12:87518237:T:C Identity +NM_001324112.2:c.914dup NP_001311041.1:p.Met305fs NC_000008.11:64615168:A:AA p.(Met305IlefsTer16) NC_000008.11:64615168:A:AA p.(Met305IlefsTer16) ERR:SPDI Analogous +NM_000179.3:c.3226C>G NP_000170.1:p.Arg1076Gly NC_000002.12:47803472:C:G p.(Arg1076Gly) NC_000002.12:47803472:C:G p.(Arg1076Gly) NC_000002.12:47803472:C:G Identity +NM_000179.3:c.2092dup NP_000170.1:p.Gln698fs NC_000002.12:47800074:C:CC p.(Gln698ProfsTer8) NC_000002.12:47800074:C:CC p.(Gln698ProfsTer8) ERR:SPDI Analogous +NM_000070.3:c.1319G>A NP_000061.1:p.Arg440Gln NC_000015.10:42399616:G:A p.(Arg440Gln) NC_000015.10:42399616:G:A p.(Arg440Gln) NC_000015.10:42399616:G:A Identity +NM_001012509.4:c.264del NP_001012527.2:p.Gly89fs NC_000005.10:33984319:G: p.(Gly89AspfsTer24) NC_000005.10:33984319:G: p.(Gly89AspfsTer24) NC_000005.10:33984319:G: Analogous +NM_001271999.2:c.5022del NP_001258928.1:p.Pro1675fs NC_000001.11:62494442:A: p.(Pro1675GlnfsTer5) NC_000001.11:62494442:A: p.(Pro1675GlnfsTer5) NC_000001.11:62494442:A: Analogous +NM_006147.4:c.29dup NP_006138.1:p.Pro12fs NC_000001.11:209801384:A:AA p.(Pro12AlafsTer9) NC_000001.11:209801384:A:AA p.(Pro12AlafsTer9) ERR:SPDI Analogous +NM_014141.6:c.252G>C NP_054860.1:p.Trp84Cys NC_000007.14:146839753:G:C p.(Trp84Cys) NC_000007.14:146839753:G:C p.(Trp84Cys) NC_000007.14:146839753:G:C Identity +NM_001042663.3:c.1606C>G NP_001036128.2:p.Leu536Val NC_000001.11:6470781:G:C p.(Leu536Val) NC_000001.11:6470781:G:C p.(Leu536Val) NC_000001.11:6470781:G:C Identity +NM_001005360.3:c.8A>G NP_001005360.1:p.Asn3Ser NC_000019.10:10718249:A:G p.(Asn3Ser) NC_000019.10:10718249:A:G p.(Asn3Ser) NC_000019.10:10718249:A:G Identity +NM_001127713.1:c.922G>A NP_001121185.1:p.Glu308Lys NC_000014.9:50620657:G:A p.(Glu308Lys) NC_000014.9:50620657:G:A p.(Glu308Lys) NC_000014.9:50620657:G:A Identity +NM_001128227.3:c.1664C>T NP_001121699.1:p.Ala555Val NC_000009.12:36222838:G:A p.(Ala555Val) NC_000009.12:36222838:G:A p.(Ala555Val) NC_000009.12:36222838:G:A Identity +NM_000283.4:c.886G>T NP_000274.3:p.Glu296Ter NC_000004.12:654112:G:T p.(Glu296Ter) NC_000004.12:654112:G:T p.(Glu296Ter) NC_000004.12:654112:G:T Identity +NM_018941.4:c.562_563del NP_061764.2:p.Leu188fs NC_000008.11:1780264:TCTCT:TCT p.(Leu188ValfsTer58) NC_000008.11:1780264:TCTCT:TCT p.(Leu188ValfsTer58) NC_000008.11:1780267:CT: Analogous +NM_000271.5:c.2213C>A NP_000262.2:p.Ser738Ter NC_000018.10:23543486:G:T p.(Ser738Ter) NC_000018.10:23543486:G:T p.(Ser738Ter) NC_000018.10:23543486:G:T Identity +NM_000350.3:c.2875A>T NP_000341.2:p.Thr959Ser NC_000001.11:94046961:T:A p.(Thr959Ser) NC_000001.11:94046961:T:A p.(Thr959Ser) NC_000001.11:94046961:T:A Identity +NM_206933.4:c.6554A>G NP_996816.3:p.His2185Arg NC_000001.11:215998989:T:C p.(His2185Arg) NC_000001.11:215998989:T:C p.(His2185Arg) NC_000001.11:215998989:T:C Identity +NM_004329.3:c.551C>G NP_004320.2:p.Ser184Ter NC_000010.11:86912259:C:G p.(Ser184Ter) NC_000010.11:86912259:C:G p.(Ser184Ter) NC_000010.11:86912259:C:G Identity +NM_000077.5:c.67G>T NP_000068.1:p.Gly23Cys NC_000009.12:21974760:C:A p.(Gly23Cys) NC_000009.12:21974760:C:A p.(Gly23Cys) NC_000009.12:21974760:C:A Identity +NM_001166660.2:c.10C>T NP_001160132.1:p.Arg4Trp NC_000023.11:71147758:C:T p.(Arg4Trp) NC_000023.11:71147758:C:T p.(Arg4Trp) NC_000023.11:71147758:C:T Identity +NM_000088.4:c.589G>T NP_000079.2:p.Gly197Cys NC_000017.11:50198001:C:A p.(Gly197Cys) NC_000017.11:50198001:C:A p.(Gly197Cys) NC_000017.11:50198001:C:A Identity +NM_001204.7:c.251G>T NP_001195.2:p.Cys84Phe NC_000002.12:202467521:G:T p.(Cys84Phe) NC_000002.12:202467521:G:T p.(Cys84Phe) NC_000002.12:202467521:G:T Identity +NM_000257.4:c.2443C>T NP_000248.2:p.Gln815Ter NC_000014.9:23425004:G:A p.(Gln815Ter) NC_000014.9:23425004:G:A p.(Gln815Ter) NC_000014.9:23425004:G:A Identity +NM_001384880.1:c.1024A>C NP_001371809.1:p.Thr342Pro NC_000002.12:190991240:T:G p.(Thr342Pro) NC_000002.12:190991240:T:G p.(Thr342Pro) NC_000002.12:190991240:T:G Identity +NM_001126131.2:c.1540C>T NP_001119603.1:p.Pro514Ser NC_000015.10:89326956:G:A p.(Pro514Ser) NC_000015.10:89326956:G:A p.(Pro514Ser) NC_000015.10:89326956:G:A Identity +NM_001204.7:c.932G>A NP_001195.2:p.Gly311Glu NC_000002.12:202520165:G:A p.(Gly311Glu) NC_000002.12:202520165:G:A p.(Gly311Glu) NC_000002.12:202520165:G:A Identity +NM_001204.7:c.1246_1247insG NP_001195.2:p.Ile416fs NC_000002.12:202532702::G p.(Ile416SerfsTer32) NC_000002.12:202532701:A:G p.(Ile416SerfsTer32) NC_000002.12:202532702:AT:G Analogous +LRG_589t1:c.1804del LRG_589p1:p.Ile602fs NC_000009.12:127815990:T: ERR:Data provider error: ValueError: Transcript LRG_589t1 not found ERR:Data provider error: ValueError: Transcript LRG_589t1 not found ERR:AlignmentMapper(tx_ac=LRG_589t1, alt_ac=LRG_589t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_589t1, alt_ac=LRG_589t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_589t1 not found +NM_000404.4:c.31C>G NP_000395.3:p.Leu11Val NC_000003.12:33097054:G:C p.(Leu11Val) NC_000003.12:33097054:G:C p.(Leu11Val) NC_000003.12:33097054:G:C Identity +NM_001127214.4:c.1028G>A NP_001120686.1:p.Trp343Ter NC_000016.10:89114388:G:A p.(Trp343Ter) NC_000016.10:89114388:G:A p.(Trp343Ter) NC_000016.10:89114388:G:A Identity +NM_001013703.4:c.3344C>T NP_001013725.2:p.Pro1115Leu NC_000015.10:40003300:C:T p.(Pro1115Leu) NC_000015.10:40003300:C:T p.(Pro1115Leu) NC_000015.10:40003300:C:T Identity +NM_001353229.2:c.575_581del NP_001340158.1:p.Thr192fs NC_000017.11:17224012:ATGATGG: p.(Thr192ArgfsTer47) NC_000017.11:17224012:ATGATGG: p.(Thr192ArgfsTer47) NC_000017.11:17224012:ATGATGG: Analogous +NM_130468.4:c.224C>A NP_569735.1:p.Pro75Gln NC_000015.10:40471436:C:A p.(Pro75Gln) NC_000015.10:40471436:C:A p.(Pro75Gln) NC_000015.10:40471436:C:A Identity +NM_005477.3:c.2399G>A NP_005468.1:p.Arg800His NC_000015.10:73323693:C:T p.(Arg800His) NC_000015.10:73323693:C:T p.(Arg800His) NC_000015.10:73323693:C:T Identity +NM_001204.7:c.794A>G NP_001195.2:p.Glu265Gly NC_000002.12:202518993:A:G p.(Glu265Gly) NC_000002.12:202518993:A:G p.(Glu265Gly) NC_000002.12:202518993:A:G Identity +NM_001204.7:c.1117G>C NP_001195.2:p.Ala373Pro NC_000002.12:202530942:G:C p.(Ala373Pro) NC_000002.12:202530942:G:C p.(Ala373Pro) NC_000002.12:202530942:G:C Identity +NM_001204.7:c.1171G>A NP_001195.2:p.Ala391Thr NC_000002.12:202532626:G:A p.(Ala391Thr) NC_000002.12:202532626:G:A p.(Ala391Thr) NC_000002.12:202532626:G:A Identity +NM_001293306.2:c.1004A>G NP_001280235.2:p.Asn335Ser NC_000003.12:38757105:T:C p.(Asn335Ser) NC_000003.12:38757105:T:C p.(Asn335Ser) NC_000003.12:38757105:T:C Identity +NM_015384.5:c.5843T>A NP_056199.2:p.Phe1948Tyr NC_000005.10:37027392:T:A p.(Phe1948Tyr) NC_000005.10:37027392:T:A p.(Phe1948Tyr) NC_000005.10:37027392:T:A Identity +NM_000290.4:c.20del NP_000281.2:p.Val7fs NC_000007.14:44065509:A: p.(Val7GlyfsTer24) NC_000007.14:44065509:A: p.(Val7GlyfsTer24) NC_000007.14:44065509:A: Analogous +NM_001367624.2:c.523G>A NP_001354553.1:p.Ala175Thr NC_000016.10:88427992:G:A p.(Ala175Thr) NC_000016.10:88427992:G:A p.(Ala175Thr) NC_000016.10:88427992:G:A Identity +NM_004370.6:c.563C>T NP_004361.3:p.Thr188Ile NC_000006.12:75189646:G:A p.(Thr188Ile) NC_000006.12:75189646:G:A p.(Thr188Ile) NC_000006.12:75189646:G:A Identity +NM_032409.3:c.502G>C NP_115785.1:p.Ala168Pro NC_000001.11:20637955:G:C p.(Ala168Pro) NC_000001.11:20637955:G:C p.(Ala168Pro) NC_000001.11:20637955:G:C Identity +NM_000377.3:c.390del NP_000368.1:p.Asp130fs NC_000023.11:48685762:C: p.(Asp130GlufsTer131) NC_000023.11:48685762:C: p.(Asp130GlufsTer131) NC_000023.11:48685762:C: Analogous +NM_000833.5:c.2288T>C NP_000824.1:p.Ile763Thr NC_000016.10:9798344:A:G p.(Ile763Thr) NC_000016.10:9798344:A:G p.(Ile763Thr) NC_000016.10:9798344:A:G Identity +NM_005523.6:c.625G>A NP_005514.1:p.Glu209Lys NC_000007.14:27184519:C:T p.(Glu209Lys) NC_000007.14:27184519:C:T p.(Glu209Lys) NC_000007.14:27184519:C:T Identity +NM_001363725.2:c.1466_1467del NP_001350654.1:p.Gly489fs NC_000006.12:157189686:GC: p.(Gly489GlufsTer10) NC_000006.12:157189686:GC: p.(Gly489GlufsTer10) NC_000006.12:157189686:GC: Analogous +LRG_3t1:c.200G>C LRG_3p1:p.Cys67Ser NC_000002.12:188984879:G:C ERR:Data provider error: ValueError: Transcript LRG_3t1 not found ERR:Data provider error: ValueError: Transcript LRG_3t1 not found ERR:AlignmentMapper(tx_ac=LRG_3t1, alt_ac=LRG_3t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_3t1, alt_ac=LRG_3t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_3t1 not found +NM_001943.5:c.46A>G NP_001934.2:p.Ile16Val NC_000018.10:31518238:A:G p.(Ile16Val) NC_000018.10:31518238:A:G p.(Ile16Val) NC_000018.10:31518238:A:G Identity +NM_001367624.2:c.10294C>T NP_001354553.1:p.Gln3432Ter NC_000016.10:88437763:C:T p.(Gln3432Ter) NC_000016.10:88437763:C:T p.(Gln3432Ter) NC_000016.10:88437763:C:T Identity +NM_001037633.2:c.1189G>A NP_001032722.1:p.Val397Met NC_000005.10:138947313:C:T p.(Val397Met) NC_000005.10:138947313:C:T p.(Val397Met) NC_000005.10:138947313:C:T Identity +NM_001322404.2:c.232C>T NP_001309333.1:p.Pro78Ser NC_000011.10:86306445:C:T p.(Pro78Ser) NC_000011.10:86306445:C:T p.(Pro78Ser) NC_000011.10:86306445:C:T Identity +NM_133436.3:c.1424C>A NP_597680.2:p.Thr475Asn NC_000007.14:97853111:G:T p.(Thr475Asn) NC_000007.14:97853111:G:T p.(Thr475Asn) NC_000007.14:97853111:G:T Identity +NM_001145853.1:c.2061G>C NP_001139325.1:p.Gln687His NC_000004.12:6301855:G:C p.(Gln687His) NC_000004.12:6301855:G:C p.(Gln687His) NC_000004.12:6301855:G:C Identity +NM_000062.3:c.1475T>C NP_000053.2:p.Met492Thr NC_000011.10:57614552:T:C p.(Met492Thr) NC_000011.10:57614552:T:C p.(Met492Thr) NC_000011.10:57614552:T:C Identity +NM_000244.4:c.442A>G NP_000235.3:p.Thr148Ala NC_000011.10:64809667:T:C p.(Thr148Ala) NC_000011.10:64809667:T:C p.(Thr148Ala) NC_000011.10:64809667:T:C Identity +NM_000038.6:c.5520del NP_000029.2:p.Phe1840fs NC_000005.10:112841110:TTTT:TTT p.(Phe1840LeufsTer23) NC_000005.10:112841110:TTTT:TTT p.(Phe1840LeufsTer23) NC_000005.10:112841113:T: Analogous +NM_000038.6:c.4549C>T NP_000029.2:p.Gln1517Ter NC_000005.10:112840142:C:T p.(Gln1517Ter) NC_000005.10:112840142:C:T p.(Gln1517Ter) NC_000005.10:112840142:C:T Identity +NM_000314.8:c.512_515del NP_000305.3:p.Gln171fs NC_000010.11:87952136:AGAG: p.(Gln171ArgfsTer11) NC_000010.11:87952136:AGAG: p.(Gln171ArgfsTer11) NC_000010.11:87952136:AGAG: Analogous +LRG_386t1:c.2539T>C LRG_386p1:p.Tyr847His NC_000011.10:47337453:A:G ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_004092.4:c.664G>A NP_004083.3:p.Ala222Thr NC_000010.11:133366050:C:T p.(Ala222Thr) NC_000010.11:133366050:C:T p.(Ala222Thr) NC_000010.11:133366050:C:T Identity +LRG_1137t1:c.3181C>G LRG_1137p1:p.Pro1061Ala NC_000016.10:88731720:G:C ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found +NM_024422.6:c.2603C>T NP_077740.1:p.Ser868Phe NC_000018.10:31068117:G:A p.(Ser868Phe) NC_000018.10:31068117:G:A p.(Ser868Phe) NC_000018.10:31068117:G:A Identity +NM_000548.5:c.4324G>T NP_000539.2:p.Glu1442Ter NC_000016.10:2084545:G:T p.(Glu1442Ter) NC_000016.10:2084545:G:T p.(Glu1442Ter) NC_000016.10:2084545:G:T Identity +NM_000179.3:c.3767A>C NP_000170.1:p.Tyr1256Ser NC_000002.12:47806323:A:C p.(Tyr1256Ser) NC_000002.12:47806323:A:C p.(Tyr1256Ser) NC_000002.12:47806323:A:C Identity +NM_000179.3:c.2303C>T NP_000170.1:p.Pro768Leu NC_000002.12:47800285:C:T p.(Pro768Leu) NC_000002.12:47800285:C:T p.(Pro768Leu) NC_000002.12:47800285:C:T Identity +NM_000251.3:c.365delinsCGG NP_000242.1:p.Lys122fs NC_000002.12:47408553:A:CGG p.(Lys122ThrfsTer53) NC_000002.12:47408552:AA:ACGG p.(Lys122ThrfsTer53) NC_000002.12:47408553:A:CGG Analogous +NM_000455.5:c.709G>C NP_000446.1:p.Asp237His NC_000019.10:1220691:G:C p.(Asp237His) NC_000019.10:1220691:G:C p.(Asp237His) NC_000019.10:1220691:G:C Identity +NM_000179.3:c.843_847dup NP_000170.1:p.Gly283fs NC_000002.12:47798820:AGTGGAGTGG:AGTGGAGTGGAGTGG p.(Gly283GlufsTer10) NC_000002.12:47798820:AGTGGAGTGG:AGTGGAGTGGAGTGG p.(Gly283GlufsTer10) ERR:SPDI Analogous +NM_004329.3:c.367del NP_004320.2:p.Glu123fs NC_000010.11:86899826:G: p.(Glu123AsnfsTer21) NC_000010.11:86899826:G: p.(Glu123AsnfsTer21) NC_000010.11:86899826:G: Analogous +NM_001195573.1:c.1462dup NP_001182502.1:p.Gln488fs NC_000014.9:95117668:G:GG p.(Gln488ProfsTer19) NC_000014.9:95117668:G:GG p.(Gln488ProfsTer19) ERR:SPDI Analogous +NM_000251.3:c.1148G>A NP_000242.1:p.Arg383Gln NC_000002.12:47429812:G:A p.(Arg383Gln) NC_000002.12:47429812:G:A p.(Arg383Gln) NC_000002.12:47429812:G:A Identity +NM_004370.6:c.8081G>T NP_004361.3:p.Gly2694Val NC_000006.12:75109036:C:A p.(Gly2694Val) NC_000006.12:75109036:C:A p.(Gly2694Val) NC_000006.12:75109036:C:A Identity +NM_000089.4:c.3473A>C NP_000080.2:p.Asn1158Thr NC_000007.14:94427831:A:C p.(Asn1158Thr) NC_000007.14:94427831:A:C p.(Asn1158Thr) NC_000007.14:94427831:A:C Identity +NM_000166.6:c.307A>G NP_000157.1:p.Lys103Glu NC_000023.11:71224013:A:G p.(Lys103Glu) NC_000023.11:71224013:A:G p.(Lys103Glu) NC_000023.11:71224013:A:G Identity +NM_024529.5:c.860C>T NP_078805.3:p.Pro287Leu NC_000001.11:193150334:C:T p.(Pro287Leu) NC_000001.11:193150334:C:T p.(Pro287Leu) NC_000001.11:193150334:C:T Identity +NM_000069.3:c.1904T>A NP_000060.2:p.Met635Lys NC_000001.11:201075538:A:T p.(Met635Lys) NC_000001.11:201075538:A:T p.(Met635Lys) NC_000001.11:201075538:A:T Identity +NM_000257.4:c.4441C>T NP_000248.2:p.Leu1481Phe NC_000014.9:23417230:G:A p.(Leu1481Phe) NC_000014.9:23417230:G:A p.(Leu1481Phe) NC_000014.9:23417230:G:A Identity +NM_000455.5:c.911G>C NP_000446.1:p.Arg304Pro NC_000019.10:1221996:G:C p.(Arg304Pro) NC_000019.10:1221996:G:C p.(Arg304Pro) NC_000019.10:1221996:G:C Identity +NM_001354609.2:c.254A>G NP_001341538.1:p.Tyr85Cys NC_000007.14:140834858:T:C p.(Tyr85Cys) NC_000007.14:140834858:T:C p.(Tyr85Cys) NC_000007.14:140834858:T:C Identity +NM_012213.3:c.1295G>A NP_036345.2:p.Arg432His NC_000016.10:83915301:G:A p.(Arg432His) NC_000016.10:83915301:G:A p.(Arg432His) NC_000016.10:83915301:G:A Identity +NM_001098268.2:c.907G>C NP_001091738.1:p.Gly303Arg NC_000013.11:108210361:C:G p.(Gly303Arg) NC_000013.11:108210361:C:G p.(Gly303Arg) NC_000013.11:108210361:C:G Identity +NM_001008844.3:c.6102dup NP_001008844.1:p.Thr2035fs NC_000006.12:7585159:TT:TTT p.(Thr2035TyrfsTer10) NC_000006.12:7585159:TT:TTT p.(Thr2035TyrfsTer10) ERR:SPDI Analogous +NM_001193416.3:c.641_643delinsCC NP_001180345.1:p.Ile214fs NC_000023.11:41343312:TCA:CC p.(Ile214ThrfsTer7) NC_000023.11:41343311:ATCA:ACC p.(Ile214ThrfsTer7) NC_000023.11:41343312:TCA:CC Analogous +NM_001353229.2:c.49dup NP_001340158.1:p.Arg17fs NC_000017.11:17228088:GGGGG:GGGGGG p.(Arg17ProfsTer20) NC_000017.11:17228088:GGGGG:GGGGGG p.(Arg17ProfsTer20) ERR:SPDI Analogous +NM_020778.5:c.133C>T NP_065829.4:p.Pro45Ser NC_000015.10:84817584:C:T p.(Pro45Ser) NC_000015.10:84817584:C:T p.(Pro45Ser) NC_000015.10:84817584:C:T Identity +NM_001039550.2:c.73C>T NP_001034639.1:p.Arg25Cys NC_000002.12:219280584:C:T p.(Arg25Cys) NC_000002.12:219280584:C:T p.(Arg25Cys) NC_000002.12:219280584:C:T Identity +NM_001372044.2:c.4454del NP_001358973.1:p.Pro1485fs NC_000022.11:50722060:CC:C p.(Lys1486ArgfsTer4) NC_000022.11:50722098:GGGG:GGG p.(Lys1486ArgfsTer4) NC_000022.11:50722100:G: Analogous +NM_006516.4:c.313G>C NP_006507.2:p.Val105Leu NC_000001.11:42930828:C:G p.(Val105Leu) NC_000001.11:42930828:C:G p.(Val105Leu) NC_000001.11:42930828:C:G Identity +NM_001129820.2:c.1427C>G NP_001123292.1:p.Pro476Arg NC_000017.11:35553206:G:C p.(Pro476Arg) NC_000017.11:35553206:G:C p.(Pro476Arg) NC_000017.11:35553206:G:C Identity +NM_015335.5:c.2930C>T NP_056150.1:p.Ala977Val NC_000012.12:115996541:G:A p.(Ala977Val) NC_000012.12:115996541:G:A p.(Ala977Val) NC_000012.12:115996541:G:A Identity +NM_001304481.2:c.1210C>T NP_001291410.1:p.Arg404Cys NC_000012.12:32602278:C:T p.(Arg404Cys) NC_000012.12:32602278:C:T p.(Arg404Cys) NC_000012.12:32602278:C:T Identity +NM_000082.4:c.295_297delinsTG NP_000073.1:p.Arg99fs NC_000005.10:60918366:TCT:CA p.(Arg99CysfsTer26) NC_000005.10:60918366:TCT:CA p.(Arg99CysfsTer26) NC_000005.10:60918366:TCT:CA Analogous +NM_001177875.2:c.16A>G NP_001171346.1:p.Ile6Val NC_000005.10:96432105:T:C p.(Ile6Val) NC_000005.10:96432105:T:C p.(Ile6Val) NC_000005.10:96432105:T:C Identity +NM_014727.3:c.6556C>G NP_055542.1:p.Pro2186Ala NC_000019.10:35733104:C:G p.(Pro2186Ala) NC_000019.10:35733104:C:G p.(Pro2186Ala) NC_000019.10:35733104:C:G Identity +NM_001144996.2:c.1285C>T NP_001138468.1:p.Pro429Ser NC_000012.12:55697945:G:A p.(Pro429Ser) NC_000012.12:55697945:G:A p.(Pro429Ser) NC_000012.12:55697945:G:A Identity +NM_004975.4:c.2324C>A NP_004966.1:p.Pro775His NC_000020.11:49373235:G:T p.(Pro775His) NC_000020.11:49373235:G:T p.(Pro775His) NC_000020.11:49373235:G:T Identity +NM_000166.6:c.148T>C NP_000157.1:p.Ser50Pro NC_000023.11:71223854:T:C p.(Ser50Pro) NC_000023.11:71223854:T:C p.(Ser50Pro) NC_000023.11:71223854:T:C Identity +NM_000079.4:c.778G>T NP_000070.1:p.Gly260Trp NC_000002.12:174753502:C:A p.(Gly260Trp) NC_000002.12:174753502:C:A p.(Gly260Trp) NC_000002.12:174753502:C:A Identity +NM_004369.4:c.9217A>G NP_004360.2:p.Ser3073Gly NC_000002.12:237334637:T:C p.(Ser3073Gly) NC_000002.12:237334637:T:C p.(Ser3073Gly) NC_000002.12:237334637:T:C Identity +NM_004949.5:c.601G>A NP_004940.1:p.Val201Ile NC_000018.10:31089467:C:T p.(Val201Ile) NC_000018.10:31089467:C:T p.(Val201Ile) NC_000018.10:31089467:C:T Identity +NM_000806.5:c.934G>A NP_000797.2:p.Ala312Thr NC_000005.10:161895742:G:A p.(Ala312Thr) NC_000005.10:161895742:G:A p.(Ala312Thr) NC_000005.10:161895742:G:A Identity +NM_000445.5:c.11017C>T NP_000436.2:p.Arg3673Cys NC_000008.11:143918884:G:A p.(Arg3673Cys) NC_000008.11:143918884:G:A p.(Arg3673Cys) NC_000008.11:143918884:G:A Identity +NM_001293306.2:c.5545C>T NP_001280235.2:p.Gln1849Ter NC_000003.12:38697671:G:A p.(Gln1849Ter) NC_000003.12:38697671:G:A p.(Gln1849Ter) NC_000003.12:38697671:G:A Identity +LRG_386t1:c.929A>G LRG_386p1:p.Asp310Gly NC_000011.10:47346367:T:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_006739.4:c.850_851del NP_006730.2:p.Arg284fs NC_000022.11:35410840:AG: p.(Arg284GlyfsTer49) NC_000022.11:35410840:AG: p.(Arg284GlyfsTer49) NC_000022.11:35410840:AG: Analogous +NM_001354705.2:c.532T>C NP_001341634.1:p.Ser178Pro NC_000012.12:57569046:T:C p.(Ser178Pro) NC_000012.12:57569046:T:C p.(Ser178Pro) NC_000012.12:57569046:T:C Identity +NM_001203247.2:c.2198C>A NP_001190176.1:p.Ala733Asp NC_000007.14:148807688:G:T p.(Ala733Asp) NC_000007.14:148807688:G:T p.(Ala733Asp) NC_000007.14:148807688:G:T Identity +NM_001306177.2:c.1685A>C NP_001293106.1:p.Asp562Ala NC_000023.11:136669524:T:G p.(Asp562Ala) NC_000023.11:136669524:T:G p.(Asp562Ala) NC_000023.11:136669524:T:G Identity +NM_001347721.2:c.1642C>G NP_001334650.1:p.Gln548Glu NC_000021.9:37506220:C:G p.(Gln548Glu) NC_000021.9:37506220:C:G p.(Gln548Glu) NC_000021.9:37506220:C:G Identity +NM_000280.6:c.1A>C NP_000271.1:p.Met1Leu NC_000011.10:31806410:T:G p.(Met1Leu) NC_000011.10:31806410:T:G p.Met1? NC_000011.10:31806410:T:G Identity +NM_004459.7:c.5770G>A NP_004450.3:p.Ala1924Thr NC_000017.11:67918801:G:A p.(Ala1924Thr) NC_000017.11:67918801:G:A p.(Ala1924Thr) NC_000017.11:67918801:G:A Identity +NM_004501.3:c.16delinsATT NP_004492.2:p.Val6fs NC_000001.11:244864291:C:AAT p.(Val6IlefsTer4) NC_000001.11:244864291:C:AAT p.(Val6IlefsTer4) NC_000001.11:244864291:C:AAT Analogous +LRG_1425t1:c.3989del LRG_1425p1:p.Ala1330fs NC_000015.10:92998601:C: ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found +NM_001017989.3:c.30G>T NP_001017989.2:p.Lys10Asn NC_000019.10:45584734:C:A p.(Lys10Asn) NC_000019.10:45584734:C:A p.(Lys10Asn) NC_000019.10:45584734:C:A Identity +NM_001844.5:c.3626G>T NP_001835.3:p.Gly1209Val NC_000012.12:47975576:C:A p.(Gly1209Val) NC_000012.12:47975576:C:A p.(Gly1209Val) NC_000012.12:47975576:C:A Identity +NM_001407919.1:c.1839_1845del NP_001394848.1:p.Lys613fs NC_000017.11:43093562:GTTGTAC: p.(Lys613AsnfsTer45) NC_000017.11:43093562:GTTGTAC: p.(Lys613AsnfsTer45) NC_000017.11:43093562:GTTGTAC: Analogous +NM_000059.4:c.3344del NP_000050.3:p.Ser1115fs NC_000013.11:32337698:C: p.(Ser1115LeufsTer4) NC_000013.11:32337698:C: p.(Ser1115LeufsTer4) NC_000013.11:32337698:C: Analogous +NM_000527.5:c.1162dup NP_000518.1:p.His388fs NC_000019.10:11111610:CCCCC:CCCCCC p.(His388ProfsTer53) NC_000019.10:11111610:CCCCC:CCCCCC p.(His388ProfsTer53) ERR:SPDI Analogous +NM_006345.4:c.1049_1051del NP_006336.3:p.Ala350del NC_000004.12:42065323:AGCAG:AG p.(Ala350del) NC_000004.12:42065323:AGCAG:AG p.(Ala350del) NC_000004.12:42065325:CAG: Identity +NM_001567.4:c.1845dup NP_001558.3:p.Ile616fs NC_000011.10:72232757:T:TT p.(Ile616TyrfsTer14) NC_000011.10:72232757:T:TT p.(Ile616TyrfsTer14) ERR:SPDI Analogous +NM_000183.3:c.693_696dup NP_000174.1:p.Ala233fs NC_000002.12:26279196:CGCT:CGCTCGCT p.(Ala233ArgfsTer12) NC_000002.12:26279196:CGCT:CGCTCGCT p.(Ala233ArgfsTer12) ERR:SPDI Analogous +NM_001407571.1:c.1178_1179insG NP_001394500.1:p.Tyr394fs NC_000017.11:43094139::C p.(Tyr394LeufsTer15) NC_000017.11:43094138:G:C p.(Tyr394LeufsTer15) NC_000017.11:43094139:GG:C Analogous +NM_001407571.1:c.4462_4462+1insA NP_001394500.1:p.Glu1488 NC_000017.11:43074330::T ERR:Unsupported operation: Intronic variants not yet supported in c_to_p NC_000017.11:43074329:C:T p.? NC_000017.11:43074330:CC:T Unknown +NM_001178045.2:c.238A>G NP_001171516.1:p.Met80Val NC_000006.12:31874722:T:C p.(Met80Val) NC_000006.12:31874722:T:C p.(Met80Val) NC_000006.12:31874722:T:C Identity +NM_017613.4:c.82A>C NP_060083.1:p.Ser28Arg NC_000021.9:33588559:T:G p.(Ser28Arg) NC_000021.9:33588559:T:G p.(Ser28Arg) NC_000021.9:33588559:T:G Identity +NM_015295.3:c.386T>A NP_056110.2:p.Met129Lys NC_000018.10:2666992:T:A p.(Met129Lys) NC_000018.10:2666992:T:A p.(Met129Lys) NC_000018.10:2666992:T:A Identity +NM_001110556.2:c.6455C>G NP_001104026.1:p.Ser2152Ter NC_000023.11:154352599:G:C p.(Ser2152Ter) NC_000023.11:154352599:G:C p.(Ser2152Ter) NC_000023.11:154352599:G:C Identity +NM_000053.4:c.347T>C NP_000044.2:p.Ile116Thr NC_000013.11:51974872:A:G p.(Ile116Thr) NC_000013.11:51974872:A:G p.(Ile116Thr) NC_000013.11:51974872:A:G Identity +NM_000162.5:c.566T>C NP_000153.1:p.Ile189Thr NC_000007.14:44149981:A:G p.(Ile189Thr) NC_000007.14:44149981:A:G p.(Ile189Thr) NC_000007.14:44149981:A:G Identity +NM_001282206.2:c.261_276del NP_001269135.1:p.Asp88fs NC_000009.12:34635727:GCTGAAGACAGTGTCGGC:GC p.(Asp88ProfsTer69) NC_000009.12:34635727:GCTGAAGACAGTGTCGGC:GC p.(Asp88ProfsTer69) NC_000009.12:34635727:GCTGAAGACAGTGTCG: Analogous +LRG_292t1:c.1725_1726insG LRG_292p1:p.Lys576Glufs NC_000017.11:43093805::C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407571.1:c.3498_3502del NP_001394500.1:p.Pro1167fs NC_000017.11:43091815:AAGGTA:A p.(Pro1167SerfsTer4) NC_000017.11:43091815:AAGGTA:A p.(Pro1167SerfsTer4) NC_000017.11:43091815:AAGGT: Analogous +NM_001407571.1:c.587C>A NP_001394500.1:p.Ser196Ter NC_000017.11:43094730:G:T p.(Ser196Ter) NC_000017.11:43094730:G:T p.(Ser196Ter) NC_000017.11:43094730:G:T Identity +NM_000320.3:c.44T>C NP_000311.2:p.Val15Ala NC_000004.12:17512010:A:G p.(Val15Ala) NC_000004.12:17512010:A:G p.(Val15Ala) NC_000004.12:17512010:A:G Identity +NM_001001485.3:c.2213A>G NP_001001485.1:p.Asn738Ser NC_000003.12:130996765:A:G p.(Asn738Ser) NC_000003.12:130996765:A:G p.(Asn738Ser) NC_000003.12:130996765:A:G Identity +NM_001163812.2:c.1033G>T NP_001157284.1:p.Ala345Ser NC_000010.11:100989242:G:T p.(Ala345Ser) NC_000010.11:100989242:G:T p.(Ala345Ser) NC_000010.11:100989242:G:T Identity +NM_000384.3:c.4663A>G NP_000375.3:p.Ile1555Val NC_000002.12:21012204:T:C p.(Ile1555Val) NC_000002.12:21012204:T:C p.(Ile1555Val) NC_000002.12:21012204:T:C Identity +NM_015335.5:c.1904G>A NP_056150.1:p.Ser635Asn NC_000012.12:116008508:C:T p.(Ser635Asn) NC_000012.12:116008508:C:T p.(Ser635Asn) NC_000012.12:116008508:C:T Identity +NM_006612.6:c.2578G>A NP_006603.2:p.Ala860Thr NC_000017.11:5022658:G:A p.(Ala860Thr) NC_000017.11:5022658:G:A p.(Ala860Thr) NC_000017.11:5022658:G:A Identity +NM_000720.4:c.1024G>A NP_000711.1:p.Gly342Arg NC_000003.12:53666442:G:A p.(Gly342Arg) NC_000003.12:53666442:G:A p.(Gly342Arg) NC_000003.12:53666442:G:A Identity +NM_001278512.2:c.281A>G NP_001265441.1:p.Tyr94Cys NC_000015.10:82688814:T:C p.(Tyr94Cys) NC_000015.10:82688814:T:C p.(Tyr94Cys) NC_000015.10:82688814:T:C Identity +NM_000833.5:c.3795G>T NP_000824.1:p.Gln1265His NC_000016.10:9763748:C:A p.(Gln1265His) NC_000016.10:9763748:C:A p.(Gln1265His) NC_000016.10:9763748:C:A Identity +NM_001081676.2:c.5734A>T NP_001075145.1:p.Ser1912Cys NC_000002.12:165090271:T:A p.(Ser1912Cys) NC_000002.12:165090271:T:A p.(Ser1912Cys) NC_000002.12:165090271:T:A Identity +NM_000304.4:c.233T>C NP_000295.1:p.Leu78Pro NC_000017.11:15239556:A:G p.(Leu78Pro) NC_000017.11:15239556:A:G p.(Leu78Pro) NC_000017.11:15239556:A:G Identity +NM_000545.8:c.1135C>G NP_000536.6:p.Pro379Ala NC_000012.12:120996567:C:G p.(Pro379Ala) NC_000012.12:120996567:C:G p.(Pro379Ala) NC_000012.12:120996567:C:G Identity +NM_001199107.2:c.170G>A NP_001186036.1:p.Arg57His NC_000016.10:2496317:G:A p.(Arg57His) NC_000016.10:2496317:G:A p.(Arg57His) NC_000016.10:2496317:G:A Identity +NM_001276503.2:c.148C>G NP_001263432.1:p.His50Asp NC_000011.10:112087951:C:G p.(His50Asp) NC_000011.10:112087951:C:G p.(His50Asp) NC_000011.10:112087951:C:G Identity +NM_006015.6:c.6410C>A NP_006006.3:p.Ala2137Asp NC_000001.11:26780307:C:A p.(Ala2137Asp) NC_000001.11:26780307:C:A p.(Ala2137Asp) NC_000001.11:26780307:C:A Identity +NM_000527.5:c.949dup NP_000518.1:p.Glu317fs NC_000019.10:11110659:G:GG p.(Glu317GlyfsTer15) NC_000019.10:11110659:G:GG p.(Glu317GlyfsTer15) ERR:SPDI Analogous +NM_000089.4:c.607G>C NP_000080.2:p.Ala203Pro NC_000007.14:94407858:G:C p.(Ala203Pro) NC_000007.14:94407858:G:C p.(Ala203Pro) NC_000007.14:94407858:G:C Identity +NM_001329939.2:c.1020T>A NP_001316868.1:p.Tyr340Ter NC_000014.9:75960982:A:T p.(Tyr340Ter) NC_000014.9:75960982:A:T p.(Tyr340Ter) NC_000014.9:75960982:A:T Identity +NM_022114.4:c.403G>A NP_071397.3:p.Val135Met NC_000001.11:3244101:G:A p.(Val135Met) NC_000001.11:3244101:G:A p.(Val135Met) NC_000001.11:3244101:G:A Identity +NM_001282279.2:c.709C>T NP_001269208.1:p.Leu237= NC_000017.11:81933371:G:A p.(Leu237=) NC_000017.11:81933371:G:A p.(Leu237=) NC_000017.11:81933371:G:A Identity +NM_001171.6:c.2836C>A NP_001162.5:p.Leu946Ile NC_000016.10:16169804:G:T p.(Leu946Ile) NC_000016.10:16169804:G:T p.(Leu946Ile) NC_000016.10:16169804:G:T Identity +NM_001171.6:c.4004T>A NP_001162.5:p.Leu1335Gln NC_000016.10:16154909:A:T p.(Leu1335Gln) NC_000016.10:16154909:A:T p.(Leu1335Gln) NC_000016.10:16154909:A:T Identity +NM_014362.4:c.808A>G NP_055177.2:p.Ser270Gly NC_000002.12:190246154:T:C p.(Ser270Gly) NC_000002.12:190246154:T:C p.(Ser270Gly) NC_000002.12:190246154:T:C Identity +NM_001270950.2:c.959G>A NP_001257879.1:p.Arg320Gln NC_000018.10:62384978:G:A p.(Arg320Gln) NC_000018.10:62384978:G:A p.(Arg320Gln) NC_000018.10:62384978:G:A Identity +NM_001033024.2:c.283T>A NP_001028196.1:p.Ser95Thr NC_000022.11:32483998:T:A p.(Ser95Thr) NC_000022.11:32483998:T:A p.(Ser95Thr) NC_000022.11:32483998:T:A Identity +NM_000038.6:c.1974_1975del NP_000029.2:p.Asn659fs NC_000005.10:112837562:AGAGAGA:AGAGA p.(Asn659GlnfsTer14) NC_000005.10:112837562:AGAGAGA:AGAGA p.(Asn659GlnfsTer14) NC_000005.10:112837567:GA: Analogous +NM_000059.4:c.1501A>G NP_000050.3:p.Ile501Val NC_000013.11:32332978:A:G p.(Ile501Val) NC_000013.11:32332978:A:G p.(Ile501Val) NC_000013.11:32332978:A:G Identity +LRG_531t1:c.2191T>C LRG_531p1:p.Tyr731His NC_000007.14:148809074:A:G ERR:Data provider error: ValueError: Transcript LRG_531t1 not found ERR:Data provider error: ValueError: Transcript LRG_531t1 not found ERR:AlignmentMapper(tx_ac=LRG_531t1, alt_ac=LRG_531t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_531t1, alt_ac=LRG_531t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_531t1 not found +NM_001270399.2:c.139G>C NP_001257328.1:p.Asp47His NC_000012.12:49186697:C:G p.(Asp47His) NC_000012.12:49186697:C:G p.(Asp47His) NC_000012.12:49186697:C:G Identity +NM_001195518.2:c.355C>T NP_001182447.1:p.Arg119Ter NC_000010.11:72551316:G:A p.(Arg119Ter) NC_000010.11:72551316:G:A p.(Arg119Ter) NC_000010.11:72551316:G:A Identity +NM_001172309.2:c.488T>C NP_001165780.1:p.Leu163Ser NC_000001.11:77926603:T:C p.(Leu163Ser) NC_000001.11:77926603:T:C p.(Leu163Ser) NC_000001.11:77926603:T:C Identity +NM_001927.4:c.262_263inv NP_001918.3:p.Leu88Arg NC_000002.12:219418723:CT:AG p.(Leu88Arg) NC_000002.12:219418723:CT:AG p.(Leu88Arg) ERR:SPDI Identity +NM_001163771.2:c.190C>T NP_001157243.1:p.Arg64Ter NC_000006.12:33189361:G:A p.(Arg64Ter) NC_000006.12:33189361:G:A p.(Arg64Ter) NC_000006.12:33189361:G:A Identity +NM_001378454.1:c.9460A>T NP_001365383.1:p.Thr3154Ser NC_000002.12:73491418:A:T p.(Thr3154Ser) NC_000002.12:73491418:A:T p.(Thr3154Ser) NC_000002.12:73491418:A:T Identity +NM_006015.6:c.239A>G NP_006006.3:p.Asn80Ser NC_000001.11:26696641:A:G p.(Asn80Ser) NC_000001.11:26696641:A:G p.(Asn80Ser) NC_000001.11:26696641:A:G Identity +LRG_402t1:c.13325C>T LRG_402p1:p.Ala4442Val NC_000001.11:237786032:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000297.4:c.2291A>T NP_000288.1:p.Gln764Leu NC_000004.12:88065811:A:T p.(Gln764Leu) NC_000004.12:88065811:A:T p.(Gln764Leu) NC_000004.12:88065811:A:T Identity +NM_001377486.1:c.40G>T NP_001364415.1:p.Asp14Tyr NC_000016.10:81356829:G:T p.(Asp14Tyr) NC_000016.10:81356829:G:T p.(Asp14Tyr) NC_000016.10:81356829:G:T Identity +NM_005045.4:c.4167C>G NP_005036.2:p.Ile1389Met NC_000007.14:103575683:G:C p.(Ile1389Met) NC_000007.14:103575683:G:C p.(Ile1389Met) NC_000007.14:103575683:G:C Identity +NM_139058.3:c.1141del NP_620689.1:p.Ala381fs NC_000023.11:25007417:CCC:CC p.(Ala381ProfsTer82) NC_000023.11:25007417:CCC:CC p.(Ala381ProfsTer82) NC_000023.11:25007417:C: Analogous +NM_001252678.2:c.656C>T NP_001239607.1:p.Ala219Val NC_000015.10:72735889:C:T p.(Ala219Val) NC_000015.10:72735889:C:T p.(Ala219Val) NC_000015.10:72735889:C:T Identity +NM_018190.4:c.1375C>T NP_060660.2:p.Arg459Cys NC_000004.12:121835279:G:A p.(Arg459Cys) NC_000004.12:121835279:G:A p.(Arg459Cys) NC_000004.12:121835279:G:A Identity +NM_014008.5:c.926C>A NP_054727.1:p.Ala309Asp NC_000023.11:49247511:C:A p.(Ala309Asp) NC_000023.11:49247511:C:A p.(Ala309Asp) NC_000023.11:49247511:C:A Identity +NM_001272003.2:c.641G>A NP_001258932.1:p.Arg214Gln NC_000009.12:135758438:G:A p.(Arg214Gln) NC_000009.12:135758438:G:A p.(Arg214Gln) NC_000009.12:135758438:G:A Identity +NM_001079846.1:c.5437C>T NP_001073315.1:p.Arg1813Cys NC_000016.10:3729495:G:A p.(Arg1813Cys) NC_000016.10:3729495:G:A p.(Arg1813Cys) NC_000016.10:3729495:G:A Identity +NM_019109.5:c.304C>T NP_061982.3:p.Gln102Ter NC_000016.10:5073169:C:T p.(Gln102Ter) NC_000016.10:5073169:C:T p.(Gln102Ter) NC_000016.10:5073169:C:T Identity +NM_001256850.1:c.53272C>T NP_001243779.1:p.Arg17758Ter NC_000002.12:178594197:G:A p.(Arg17758Ter) NC_000002.12:178594197:G:A p.(Arg17758Ter) NC_000002.12:178594197:G:A Identity +NM_001349413.1:c.1A>T NP_001336342.1:p.Met1Leu NC_000003.12:183650356:A:T p.(Met1Leu) NC_000003.12:183650356:A:T p.Met1? NC_000003.12:183650356:A:T Identity +NM_001165963.4:c.4141del NP_001159435.1:p.Thr1381fs NC_000002.12:166002614:TT:T p.(Thr1381LeufsTer10) NC_000002.12:166002614:TT:T p.(Thr1381LeufsTer10) NC_000002.12:166002614:T: Analogous +NM_001291415.2:c.1363G>A NP_001278344.1:p.Val455Ile NC_000023.11:45060641:G:A p.(Val455Ile) NC_000023.11:45060641:G:A p.(Val455Ile) NC_000023.11:45060641:G:A Identity +NM_001244008.2:c.3010G>A NP_001230937.1:p.Val1004Ile NC_000002.12:240747288:C:T p.(Val1004Ile) NC_000002.12:240747288:C:T p.(Val1004Ile) NC_000002.12:240747288:C:T Identity +NM_001365684.2:c.1181dup NP_001352613.2:p.Tyr395Valfs NC_000005.10:177210450:AAA:AAAA p.(Tyr395ValfsTer3) NC_000005.10:177210450:AAA:AAAA p.(Tyr395ValfsTer3) ERR:SPDI Analogous +NM_005045.4:c.5791A>G NP_005036.2:p.Asn1931Asp NC_000007.14:103556982:T:C p.(Asn1931Asp) NC_000007.14:103556982:T:C p.(Asn1931Asp) NC_000007.14:103556982:T:C Identity +NM_015338.6:c.664G>A NP_056153.2:p.Glu222Lys NC_000020.11:32429998:G:A p.(Glu222Lys) NC_000020.11:32429998:G:A p.(Glu222Lys) NC_000020.11:32429998:G:A Identity +NM_001171.6:c.1603T>C NP_001162.5:p.Ser535Pro NC_000016.10:16190195:A:G p.(Ser535Pro) NC_000016.10:16190195:A:G p.(Ser535Pro) NC_000016.10:16190195:A:G Identity +NM_001042383.2:c.1193G>A NP_001035842.1:p.Arg398Gln NC_000003.12:134550210:G:A p.(Arg398Gln) NC_000003.12:134550210:G:A p.(Arg398Gln) NC_000003.12:134550210:G:A Identity +NM_001849.4:c.902G>T NP_001840.3:p.Gly301Val NC_000021.9:46116377:G:T p.(Gly301Val) NC_000021.9:46116377:G:T p.(Gly301Val) NC_000021.9:46116377:G:T Identity +NM_001111077.2:c.538C>T NP_001104547.1:p.Arg180Cys NC_000006.12:158784656:G:A p.(Arg180Cys) NC_000006.12:158784656:G:A p.(Arg180Cys) NC_000006.12:158784656:G:A Identity +NM_017780.4:c.5960del NP_060250.2:p.Pro1987fs NC_000008.11:60852560:CCC:CC p.(Pro1987LeufsTer2) NC_000008.11:60852560:CCC:CC p.(Pro1987LeufsTer2) NC_000008.11:60852562:C: Analogous +NM_001852.4:c.844G>A NP_001843.1:p.Glu282Lys NC_000001.11:40309939:C:T p.(Glu282Lys) NC_000001.11:40309939:C:T p.(Glu282Lys) NC_000001.11:40309939:C:T Identity +NM_001171.6:c.3676C>A NP_001162.5:p.Leu1226Ile NC_000016.10:16159540:G:T p.(Leu1226Ile) NC_000016.10:16159540:G:T p.(Leu1226Ile) NC_000016.10:16159540:G:T Identity +NM_001010867.4:c.167G>A NP_001010867.1:p.Arg56His NC_000001.11:228165982:G:A p.(Arg56His) NC_000001.11:228165982:G:A p.(Arg56His) NC_000001.11:228165982:G:A Identity +NM_000038.6:c.325G>T NP_000029.2:p.Glu109Ter NC_000005.10:112767292:G:T p.(Glu109Ter) NC_000005.10:112767292:G:T p.(Glu109Ter) NC_000005.10:112767292:G:T Identity +NM_000162.5:c.1173C>A NP_000153.1:p.Asn391Lys NC_000007.14:44145576:G:T p.(Asn391Lys) NC_000007.14:44145576:G:T p.(Asn391Lys) NC_000007.14:44145576:G:T Identity +NM_000162.5:c.908G>A NP_000153.1:p.Arg303Gln NC_000007.14:44146573:C:T p.(Arg303Gln) NC_000007.14:44146573:C:T p.(Arg303Gln) NC_000007.14:44146573:C:T Identity +NM_000059.4:c.9777T>G NP_000050.3:p.Ile3259Met NC_000013.11:32398289:T:G p.(Ile3259Met) NC_000013.11:32398289:T:G p.(Ile3259Met) NC_000013.11:32398289:T:G Identity +NM_001305792.1:c.3309G>C NP_001292721.1:p.Trp1103Cys NC_000001.11:200553552:C:G p.(Trp1103Cys) NC_000001.11:200553552:C:G p.(Trp1103Cys) NC_000001.11:200553552:C:G Identity +NM_000535.7:c.299A>G NP_000526.2:p.Gln100Arg NC_000007.14:6003743:T:C p.(Gln100Arg) NC_000007.14:6003743:T:C p.(Gln100Arg) NC_000007.14:6003743:T:C Identity +NM_005249.5:c.538G>T NP_005240.3:p.Glu180Ter NC_000014.9:28767816:G:T p.(Glu180Ter) NC_000014.9:28767816:G:T p.(Glu180Ter) NC_000014.9:28767816:G:T Identity +NM_001105243.2:c.1384G>A NP_001098713.1:p.Val462Met NC_000023.11:100407213:C:T p.(Val462Met) NC_000023.11:100407213:C:T p.(Val462Met) NC_000023.11:100407213:C:T Identity +NM_001291411.2:c.563A>G NP_001278340.2:p.Glu188Gly NC_000021.9:33549793:A:G p.(Glu188Gly) NC_000021.9:33549793:A:G p.(Glu188Gly) NC_000021.9:33549793:A:G Identity +NM_001849.4:c.535C>T NP_001840.3:p.Arg179Trp NC_000021.9:46112397:C:T p.(Arg179Trp) NC_000021.9:46112397:C:T p.(Arg179Trp) NC_000021.9:46112397:C:T Identity +NM_000492.4:c.3267G>C NP_000483.3:p.Trp1089Cys NC_000007.14:117611707:G:C p.(Trp1089Cys) NC_000007.14:117611707:G:C p.(Trp1089Cys) NC_000007.14:117611707:G:C Identity +NM_000252.3:c.465del NP_000243.1:p.Asn155fs NC_000023.11:150638962:T: p.(Asn155LysfsTer31) NC_000023.11:150638962:T: p.(Asn155LysfsTer31) NC_000023.11:150638962:T: Analogous +NM_000252.3:c.1178dup NP_000243.1:p.Leu393fs NC_000023.11:150657943:TT:TTT p.(Leu393PhefsTer3) NC_000023.11:150657943:TT:TTT p.(Leu393PhefsTer3) ERR:SPDI Analogous +NM_020921.4:c.2494G>A NP_065972.4:p.Ala832Thr NC_000014.9:50758535:C:T p.(Ala832Thr) NC_000014.9:50758535:C:T p.(Ala832Thr) NC_000014.9:50758535:C:T Identity +NM_001315529.2:c.5252C>T NP_001302458.1:p.Thr1751Met NC_000021.9:46411678:C:T p.(Thr1751Met) NC_000021.9:46411678:C:T p.(Thr1751Met) NC_000021.9:46411678:C:T Identity +NM_001315529.2:c.6955G>C NP_001302458.1:p.Gly2319Arg NC_000021.9:46425959:G:C p.(Gly2319Arg) NC_000021.9:46425959:G:C p.(Gly2319Arg) NC_000021.9:46425959:G:C Identity +NM_001315529.2:c.8818C>G NP_001302458.1:p.Leu2940Val NC_000021.9:46440869:C:G p.(Leu2940Val) NC_000021.9:46440869:C:G p.(Leu2940Val) NC_000021.9:46440869:C:G Identity +NM_001111125.3:c.3548C>T NP_001104595.1:p.Pro1183Leu NC_000023.11:53235137:G:A p.(Pro1183Leu) NC_000023.11:53235137:G:A p.(Pro1183Leu) NC_000023.11:53235137:G:A Identity +NM_001042572.3:c.149G>A NP_001036037.1:p.Gly50Asp NC_000015.10:92924406:G:A p.(Gly50Asp) NC_000015.10:92924406:G:A p.(Gly50Asp) NC_000015.10:92924406:G:A Identity +NM_001003786.3:c.292G>A NP_001003786.1:p.Ala98Thr NC_000017.11:63710781:C:T p.(Ala98Thr) NC_000017.11:63710781:C:T p.(Ala98Thr) NC_000017.11:63710781:C:T Identity +NM_003619.4:c.772G>A NP_003610.2:p.Val258Met NC_000004.12:118335520:C:T p.(Val258Met) NC_000004.12:118335520:C:T p.(Val258Met) NC_000004.12:118335520:C:T Identity +NM_000117.3:c.703_704insA NP_000108.1:p.Phe235fs NC_000023.11:154381135::A p.(Phe235TyrfsTer15) NC_000023.11:154381134:T:A p.(Phe235TyrfsTer15) NC_000023.11:154381135:TT:A Analogous +NM_001171.6:c.1987G>T NP_001162.5:p.Gly663Cys NC_000016.10:16182886:C:A p.(Gly663Cys) NC_000016.10:16182886:C:A p.(Gly663Cys) NC_000016.10:16182886:C:A Identity +NM_001171.6:c.3902C>T NP_001162.5:p.Thr1301Ile NC_000016.10:16155011:G:A p.(Thr1301Ile) NC_000016.10:16155011:G:A p.(Thr1301Ile) NC_000016.10:16155011:G:A Identity +NM_001008844.3:c.4432C>G NP_001008844.1:p.Leu1478Val NC_000006.12:7583490:C:G p.(Leu1478Val) NC_000006.12:7583490:C:G p.(Leu1478Val) NC_000006.12:7583490:C:G Identity +NM_001040142.2:c.811A>G NP_001035232.1:p.Met271Val NC_000002.12:165310435:A:G p.(Met271Val) NC_000002.12:165310435:A:G p.(Met271Val) NC_000002.12:165310435:A:G Identity +NM_001378120.1:c.409G>A NP_001365049.1:p.Val137Ile NC_000002.12:148468351:G:A p.(Val137Ile) NC_000002.12:148468351:G:A p.(Val137Ile) NC_000002.12:148468351:G:A Identity +NM_006516.4:c.472A>C NP_006507.2:p.Thr158Pro NC_000001.11:42930669:T:G p.(Thr158Pro) NC_000001.11:42930669:T:G p.(Thr158Pro) NC_000001.11:42930669:T:G Identity +NM_003140.3:c.331C>T NP_003131.1:p.Gln111Ter NC_000024.10:2787272:G:A p.(Gln111Ter) NC_000024.10:2787272:G:A p.(Gln111Ter) NC_000024.10:2787272:G:A Identity +NM_001171.6:c.708_709dup NP_001162.5:p.Trp237fs NC_000016.10:16208812:AGAG:AGAGAG p.(Trp237SerfsTer22) NC_000016.10:16208812:AGAG:AGAGAG p.(Trp237SerfsTer22) ERR:SPDI Analogous +NM_001079528.4:c.191G>A NP_001072996.1:p.Arg64Gln NC_000016.10:16221676:C:T p.(Arg64Gln) NC_000016.10:16221676:C:T p.(Arg64Gln) NC_000016.10:16221676:C:T Identity +NM_001256850.1:c.81217G>A NP_001243779.1:p.Gly27073Arg NC_000002.12:178559991:C:T p.(Gly27073Arg) NC_000002.12:178559991:C:T p.(Gly27073Arg) NC_000002.12:178559991:C:T Identity +NM_017890.5:c.4949G>T NP_060360.3:p.Ser1650Ile NC_000008.11:99556577:G:T p.(Ser1650Ile) NC_000008.11:99556577:G:T p.(Ser1650Ile) NC_000008.11:99556577:G:T Identity +NM_001306177.2:c.1223C>T NP_001293106.1:p.Ser408Leu NC_000023.11:136680749:G:A p.(Ser408Leu) NC_000023.11:136680749:G:A p.(Ser408Leu) NC_000023.11:136680749:G:A Identity +NM_004656.4:c.1358_1359del NP_004647.1:p.Lys453fs NC_000003.12:52403785:TTT:T p.(Lys453ArgfsTer15) NC_000003.12:52403785:TTT:T p.(Lys453ArgfsTer15) NC_000003.12:52403785:TT: Analogous +NM_030928.4:c.1472G>A NP_112190.2:p.Ser491Asn NC_000016.10:88807476:G:A p.(Ser491Asn) NC_000016.10:88807476:G:A p.(Ser491Asn) NC_000016.10:88807476:G:A Identity +NM_000059.4:c.6468_6469dup NP_000050.3:p.Gln2157fs NC_000013.11:32340816:TCTCTCTC:TCTCTCTCTC p.(Gln2157LeufsTer12) NC_000013.11:32340816:TCTCTCTC:TCTCTCTCTC p.(Gln2157LeufsTer12) ERR:SPDI Analogous +NM_000251.3:c.1560dup NP_000242.1:p.Tyr521fs NC_000002.12:47466706:A:AA p.(Tyr521IlefsTer8) NC_000002.12:47466706:A:AA p.(Tyr521IlefsTer8) ERR:SPDI Analogous +NM_000296.4:c.6199C>T NP_000287.4:p.Gln2067Ter NC_000016.10:2108967:G:A p.(Gln2067Ter) NC_000016.10:2108967:G:A p.(Gln2067Ter) NC_000016.10:2108967:G:A Identity +NM_001291997.2:c.296C>T NP_001278926.1:p.Ala99Val NC_000016.10:78424898:C:T p.(Ala99Val) NC_000016.10:78424898:C:T p.(Ala99Val) NC_000016.10:78424898:C:T Identity +NM_001146189.1:c.1991G>T NP_001139661.1:p.Ser664Ile NC_000018.10:74633009:G:T p.(Ser664Ile) NC_000018.10:74633009:G:T p.(Ser664Ile) NC_000018.10:74633009:G:T Identity +NM_001037343.2:c.2359_2363del NP_001032420.1:p.Lys787fs NC_000023.11:18619946:AAAAGAA:AA p.(Lys787GlufsTer12) NC_000023.11:18619946:AAAAGAA:AA p.(Lys787GlufsTer12) NC_000023.11:18619948:AAGAA: Analogous +NM_001278716.2:c.125G>A NP_001265645.1:p.Ser42Asn NC_000006.12:98926863:C:T p.(Ser42Asn) NC_000006.12:98926863:C:T p.(Ser42Asn) NC_000006.12:98926863:C:T Identity +LRG_1386t1:c.1016G>A LRG_1386p1:p.Arg339His NC_000005.10:177513766:C:T ERR:Data provider error: ValueError: Transcript LRG_1386t1 not found ERR:Data provider error: ValueError: Transcript LRG_1386t1 not found ERR:AlignmentMapper(tx_ac=LRG_1386t1, alt_ac=LRG_1386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1386t1, alt_ac=LRG_1386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1386t1 not found +NM_001271667.2:c.547A>G NP_001258596.1:p.Thr183Ala NC_000006.12:15524546:T:C p.(Thr183Ala) NC_000006.12:15524546:T:C p.(Thr183Ala) NC_000006.12:15524546:T:C Identity +NM_001376.5:c.11245C>A NP_001367.2:p.Leu3749Ile NC_000014.9:102039038:C:A p.(Leu3749Ile) NC_000014.9:102039038:C:A p.(Leu3749Ile) NC_000014.9:102039038:C:A Identity +NM_020987.5:c.6916A>G NP_066267.2:p.Lys2306Glu NC_000010.11:60073964:T:C p.(Lys2306Glu) NC_000010.11:60073964:T:C p.(Lys2306Glu) NC_000010.11:60073964:T:C Identity +NM_001113378.2:c.2833G>C NP_001106849.1:p.Glu945Gln NC_000015.10:89300328:G:C p.(Glu945Gln) NC_000015.10:89300328:G:C p.(Glu945Gln) NC_000015.10:89300328:G:C Identity +NM_000173.7:c.1322_1344del NP_000164.5:p.Ser441fs NC_000017.11:4933925:CAGAGCCCGCCCCCAGCCCGACC: p.(Ser441TyrfsTer49) NC_000017.11:4933925:CAGAGCCCGCCCCCAGCCCGACC: p.(Ser441TyrfsTer49) NC_000017.11:4933925:CAGAGCCCGCCCCCAGCCCGACC: Analogous +NM_000457.6:c.536AGA[1] NP_000448.3:p.Lys180del NC_000020.11:44414547:GAAGAAGA:GAAGA p.(Lys180del) NC_000020.11:44414549:A:AGA ERR:Parse ERR:Parse Identity +NM_001079878.2:c.1351G>A NP_001073347.1:p.Ala451Thr NC_000002.12:98396574:G:A p.(Ala451Thr) NC_000002.12:98396574:G:A p.(Ala451Thr) NC_000002.12:98396574:G:A Identity +NM_000283.4:c.1485dup NP_000274.3:p.Pro496fs NC_000004.12:660481:GGG:GGGG p.(Pro496AlafsTer5) NC_000004.12:660481:GGG:GGGG p.(Pro496AlafsTer5) ERR:SPDI Analogous +NM_001122957.4:c.453C>G NP_001116429.1:p.Tyr151Ter NC_000016.10:31110233:C:G p.(Tyr151Ter) NC_000016.10:31110233:C:G p.(Tyr151Ter) NC_000016.10:31110233:C:G Identity +NM_017721.5:c.1936A>G NP_060191.3:p.Ile646Val NC_000019.10:13923806:A:G p.(Ile646Val) NC_000019.10:13923806:A:G p.(Ile646Val) NC_000019.10:13923806:A:G Identity +NM_016343.4:c.3811A>G NP_057427.3:p.Lys1271Glu NC_000001.11:214642148:A:G p.(Lys1271Glu) NC_000001.11:214642148:A:G p.(Lys1271Glu) NC_000001.11:214642148:A:G Identity +NM_002016.2:c.4785_4788del NP_002007.1:p.Ser1595fs NC_000001.11:152310097:CTGACT:CT p.(Ser1595ArgfsTer110) NC_000001.11:152310097:CTGACT:CT p.(Ser1595ArgfsTer110) NC_000001.11:152310097:CTGA: Analogous +NM_020451.3:c.1332_1334del NP_065184.2:p.Asn444del NC_000001.11:25812734:AACAA:AA p.(Asn444del) NC_000001.11:25812734:AACAA:AA p.? NC_000001.11:25812736:CAA: Identity +NM_001164144.3:c.793C>T NP_001157616.1:p.Pro265Ser NC_000013.11:114324634:C:T p.(Pro265Ser) NC_000013.11:114324634:C:T p.(Pro265Ser) NC_000013.11:114324634:C:T Identity +NM_001126131.2:c.3544G>A NP_001119603.1:p.Ala1182Thr NC_000015.10:89317474:C:T p.(Ala1182Thr) NC_000015.10:89317474:C:T p.(Ala1182Thr) NC_000015.10:89317474:C:T Identity +NM_001042544.1:c.3977C>A NP_001036009.1:p.Pro1326Gln NC_000019.10:40624025:C:A p.(Pro1326Gln) NC_000019.10:40624025:C:A p.(Pro1326Gln) NC_000019.10:40624025:C:A Identity +NM_000384.3:c.4187T>C NP_000375.3:p.Val1396Ala NC_000002.12:21013188:A:G p.(Val1396Ala) NC_000002.12:21013188:A:G p.(Val1396Ala) NC_000002.12:21013188:A:G Identity +NM_001362843.2:c.3653TTG[1] NP_001349772.1:p.Val1219del NC_000022.11:41164054:TTGTTG:TTG p.(Val1219del) NC_000022.11:41164054:T:TTG ERR:Parse ERR:Parse Identity +NM_000444.6:c.704del NP_000435.3:p.Tyr235fs NC_000023.11:22090468:A: p.(Tyr235SerfsTer26) NC_000023.11:22090468:A: p.(Tyr235SerfsTer26) NC_000023.11:22090468:A: Analogous +NM_000393.5:c.2602C>A NP_000384.2:p.Gln868Lys NC_000002.12:189052969:G:T p.(Gln868Lys) NC_000002.12:189052969:G:T p.(Gln868Lys) NC_000002.12:189052969:G:T Identity +NM_000059.4:c.7857G>C NP_000050.3:p.Trp2619Cys NC_000013.11:32362573:G:C p.(Trp2619Cys) NC_000013.11:32362573:G:C p.(Trp2619Cys) NC_000013.11:32362573:G:C Identity +NM_001193416.3:c.1592G>A NP_001180345.1:p.Arg531His NC_000023.11:41346598:G:A p.(Arg531His) NC_000023.11:41346598:G:A p.(Arg531His) NC_000023.11:41346598:G:A Identity +NM_000245.4:c.985C>A NP_000236.2:p.Leu329Ile NC_000007.14:116700068:C:A p.(Leu329Ile) NC_000007.14:116700068:C:A p.(Leu329Ile) NC_000007.14:116700068:C:A Identity +NM_001008537.3:c.2669C>T NP_001008537.1:p.Pro890Leu NC_000023.11:74741887:G:A p.(Pro890Leu) NC_000023.11:74741887:G:A p.(Pro890Leu) NC_000023.11:74741887:G:A Identity +NM_001244008.2:c.408C>G NP_001230937.1:p.Asp136Glu NC_000002.12:240787271:G:C p.(Asp136Glu) NC_000002.12:240787271:G:C p.(Asp136Glu) NC_000002.12:240787271:G:C Identity +NM_003482.4:c.5269C>T NP_003473.3:p.Arg1757Ter NC_000012.12:49043917:G:A p.(Arg1757Ter) NC_000012.12:49043917:G:A p.(Arg1757Ter) NC_000012.12:49043917:G:A Identity +NM_000240.4:c.515G>A NP_000231.1:p.Arg172Gln NC_000023.11:43728183:G:A p.(Arg172Gln) NC_000023.11:43728183:G:A p.(Arg172Gln) NC_000023.11:43728183:G:A Identity +NM_001173482.1:c.20A>G NP_001166953.1:p.Gln7Arg NC_000003.12:3179667:T:C p.(Gln7Arg) NC_000003.12:3179667:T:C p.(Gln7Arg) NC_000003.12:3179667:T:C Identity +NM_000135.4:c.805G>T NP_000126.2:p.Val269Leu NC_000016.10:89799625:C:A p.(Val269Leu) NC_000016.10:89799625:C:A p.(Val269Leu) NC_000016.10:89799625:C:A Identity +NM_000059.4:c.9958C>T NP_000050.3:p.Pro3320Ser NC_000013.11:32398470:C:T p.(Pro3320Ser) NC_000013.11:32398470:C:T p.(Pro3320Ser) NC_000013.11:32398470:C:T Identity +NM_004959.5:c.34_38delinsGACCTGGACCTGT NP_004950.2:p.Leu12fs NC_000009.12:124503357:CACAG:ACAGGTCCAGGTC p.(Leu12ArgfsTer66) NC_000009.12:124503356:GCACAGC:GCACAGGTCCAGGTC p.(Leu12AspfsTer66) NC_000009.12:124503357:CACAG:ACAGGTCCAGGTC Analogous +NM_001081.4:c.6613G>A NP_001072.2:p.Gly2205Arg NC_000010.11:16925273:C:T p.(Gly2205Arg) NC_000010.11:16925273:C:T p.(Gly2205Arg) NC_000010.11:16925273:C:T Identity +NM_015450.3:c.314C>T NP_056265.2:p.Thr105Met NC_000007.14:124863581:G:A p.(Thr105Met) NC_000007.14:124863581:G:A p.(Thr105Met) NC_000007.14:124863581:G:A Identity +NM_001172435.2:c.382G>A NP_001165906.1:p.Val128Met NC_000002.12:135113169:G:A p.(Val128Met) NC_000002.12:135113169:G:A p.(Val128Met) NC_000002.12:135113169:G:A Identity +NM_014845.6:c.2146C>T NP_055660.1:p.Arg716Cys NC_000006.12:109789642:C:T p.(Arg716Cys) NC_000006.12:109789642:C:T p.(Arg716Cys) NC_000006.12:109789642:C:T Identity +NM_001353229.2:c.561G>A NP_001340158.1:p.Trp187Ter NC_000017.11:17224032:C:T p.(Trp187Ter) NC_000017.11:17224032:C:T p.(Trp187Ter) NC_000017.11:17224032:C:T Identity +NM_000518.5:c.315G>T NP_000509.1:p.Arg105Ser NC_000011.10:5226576:C:A p.(Arg105Ser) NC_000011.10:5226576:C:A p.(Arg105Ser) NC_000011.10:5226576:C:A Identity +NM_001289910.1:c.539C>T NP_001276839.1:p.Ala180Val NC_000015.10:90087558:G:A p.(Ala180Val) NC_000015.10:90087558:G:A p.(Ala180Val) NC_000015.10:90087558:G:A Identity +NM_052945.4:c.475C>T NP_443177.1:p.His159Tyr NC_000022.11:41925446:G:A p.(His159Tyr) NC_000022.11:41925446:G:A p.(His159Tyr) NC_000022.11:41925446:G:A Identity +NM_001072.4:c.552A>C NP_001063.2:p.Arg184Ser NC_000002.12:233693555:A:C p.(Arg184Ser) NC_000002.12:233693555:A:C p.(Arg184Ser) NC_000002.12:233693555:A:C Identity +NM_001006657.2:c.3203A>G NP_001006658.1:p.Tyr1068Cys NC_000002.12:19914228:T:C p.(Tyr1068Cys) NC_000002.12:19914228:T:C p.(Tyr1068Cys) NC_000002.12:19914228:T:C Identity +NM_001283009.2:c.3370del NP_001269938.1:p.His1124fs NC_000020.11:63695090:CC:C p.(His1124ThrfsTer12) NC_000020.11:63695090:CC:C p.(His1124ThrfsTer12) NC_000020.11:63695091:C: Analogous +NM_000384.3:c.2297_2298del NP_000375.3:p.Lys766fs NC_000002.12:21025070:TTT:T p.(Lys766IlefsTer25) NC_000002.12:21025070:TTT:T p.(Lys766IlefsTer25) NC_000002.12:21025070:TT: Analogous +NM_000527.5:c.557dup NP_000518.1:p.Leu187fs NC_000019.10:11105459:GGGG:GGGGG p.(Leu187SerfsTer9) NC_000019.10:11105459:GGGG:GGGGG p.(Leu187SerfsTer9) ERR:SPDI Analogous +NM_000527.5:c.722T>G NP_000518.1:p.Phe241Cys NC_000019.10:11106591:T:G p.(Phe241Cys) NC_000019.10:11106591:T:G p.(Phe241Cys) NC_000019.10:11106591:T:G Identity +NM_000527.5:c.1808A>G NP_000518.1:p.Lys603Arg NC_000019.10:11116960:A:G p.(Lys603Arg) NC_000019.10:11116960:A:G p.(Lys603Arg) NC_000019.10:11116960:A:G Identity +NM_001378120.1:c.2561A>G NP_001365049.1:p.Asn854Ser NC_000002.12:148483151:A:G p.(Asn854Ser) NC_000002.12:148483151:A:G p.(Asn854Ser) NC_000002.12:148483151:A:G Identity +NM_000390.4:c.280del NP_000381.1:p.Thr94fs NC_000023.11:85978800:TTTT:TTT p.(Thr94LeufsTer32) NC_000023.11:85978800:TTTT:TTT p.(Thr94LeufsTer32) NC_000023.11:85978800:T: Analogous +NM_001350929.2:c.3036_3037insA NP_001337858.1:p.Pro1013fs NC_000014.9:104952114::T p.(Pro1013ThrfsTer9) NC_000014.9:104952113:G:T p.(Pro1013ThrfsTer9) NC_000014.9:104952114:GG:T Analogous +NM_001280547.2:c.924C>T NP_001267476.1:p.Ser308= NC_000009.12:36846915:G:A p.(Ser308=) NC_000009.12:36846915:G:A p.(Ser308=) NC_000009.12:36846915:G:A Identity +NM_001315529.2:c.237C>G NP_001302458.1:p.Ile79Met NC_000021.9:46334719:C:G p.(Ile79Met) NC_000021.9:46334719:C:G p.(Ile79Met) NC_000021.9:46334719:C:G Identity +NM_001407680.1:c.4471G>A NP_001394609.1:p.Asp1491Asn NC_000017.11:43074408:C:T p.(Asp1491Asn) NC_000017.11:43074408:C:T p.(Asp1491Asn) NC_000017.11:43074408:C:T Identity +NM_001077365.2:c.921G>T NP_001070833.1:p.Leu307= NC_000009.12:131511401:G:T p.(Leu307=) NC_000009.12:131511401:G:T p.(Leu307=) NC_000009.12:131511401:G:T Identity +NM_001330615.4:c.145G>A NP_001317544.2:p.Glu49Lys NC_000003.12:12379855:G:A p.(Glu49Lys) NC_000003.12:12379855:G:A p.(Glu49Lys) NC_000003.12:12379855:G:A Identity +NM_000059.4:c.10238C>A NP_000050.3:p.Thr3413Lys NC_000013.11:32398750:C:A p.(Thr3413Lys) NC_000013.11:32398750:C:A p.(Thr3413Lys) NC_000013.11:32398750:C:A Identity +NM_007123.6:c.1672G>A NP_009054.6:p.Asp558Asn NC_000001.11:216292342:C:T p.(Asp558Asn) NC_000001.11:216292342:C:T p.(Asp558Asn) NC_000001.11:216292342:C:T Identity +NM_001130066.2:c.3674_3675del NP_001123538.1:p.Leu1225fs NC_000006.12:33446713:TG: p.(Leu1225ArgfsTer4) NC_000006.12:33446713:TG: p.(Leu1225ArgfsTer4) NC_000006.12:33446713:TG: Analogous +LRG_1235t1:c.1558A>G LRG_1235p1:p.Thr520Ala NC_000002.12:162280078:T:C ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found +NM_001256850.1:c.46694C>A NP_001243779.1:p.Thr15565Asn NC_000002.12:178609805:G:T p.(Thr15565Asn) NC_000002.12:178609805:G:T p.(Thr15565Asn) NC_000002.12:178609805:G:T Identity +NM_000411.8:c.485C>T NP_000402.3:p.Pro162Leu NC_000021.9:36936959:G:A p.(Pro162Leu) NC_000021.9:36936959:G:A p.(Pro162Leu) NC_000021.9:36936959:G:A Identity +NM_000203.5:c.1861C>G NP_000194.2:p.Arg621Gly NC_000004.12:1004291:C:G p.(Arg621Gly) NC_000004.12:1004291:C:G p.(Arg621Gly) NC_000004.12:1004291:C:G Identity +NM_001171653.2:c.2425A>G NP_001165124.1:p.Thr809Ala NC_000002.12:144398689:T:C p.(Thr809Ala) NC_000002.12:144398689:T:C p.(Thr809Ala) NC_000002.12:144398689:T:C Identity +NM_001278716.2:c.1210C>T NP_001265645.1:p.Gln404Ter NC_000006.12:98899374:G:A p.(Gln404Ter) NC_000006.12:98899374:G:A p.(Gln404Ter) NC_000006.12:98899374:G:A Identity +NM_001278716.2:c.1027C>T NP_001265645.1:p.Arg343Cys NC_000006.12:98905501:G:A p.(Arg343Cys) NC_000006.12:98905501:G:A p.(Arg343Cys) NC_000006.12:98905501:G:A Identity +NM_001278716.2:c.1318C>G NP_001265645.1:p.Gln440Glu NC_000006.12:98880623:G:C p.(Gln440Glu) NC_000006.12:98880623:G:C p.(Gln440Glu) NC_000006.12:98880623:G:C Identity +NM_001278716.2:c.1468A>G NP_001265645.1:p.Lys490Glu NC_000006.12:98875648:T:C p.(Lys490Glu) NC_000006.12:98875648:T:C p.(Lys490Glu) NC_000006.12:98875648:T:C Identity +NM_001278716.2:c.1546C>T NP_001265645.1:p.Pro516Ser NC_000006.12:98875570:G:A p.(Pro516Ser) NC_000006.12:98875570:G:A p.(Pro516Ser) NC_000006.12:98875570:G:A Identity +NM_001204961.2:c.550C>T NP_001191890.1:p.Arg184Ter NC_000001.11:164799737:C:T p.(Arg184Ter) NC_000001.11:164799737:C:T p.(Arg184Ter) NC_000001.11:164799737:C:T Identity +NM_001261406.2:c.1990T>C NP_001248335.1:p.Phe664Leu NC_000009.12:13190277:A:G p.(Phe664Leu) NC_000009.12:13190277:A:G p.(Phe664Leu) NC_000009.12:13190277:A:G Identity +NM_002016.2:c.7801G>A NP_002007.1:p.Asp2601Asn NC_000001.11:152307084:C:T p.(Asp2601Asn) NC_000001.11:152307084:C:T p.(Asp2601Asn) NC_000001.11:152307084:C:T Identity +NM_004667.6:c.5429T>C NP_004658.3:p.Met1810Thr NC_000015.10:28228252:A:G p.(Met1810Thr) NC_000015.10:28228252:A:G p.(Met1810Thr) NC_000015.10:28228252:A:G Identity +NM_001171.6:c.1064T>G NP_001162.5:p.Leu355Arg NC_000016.10:16202112:A:C p.(Leu355Arg) NC_000016.10:16202112:A:C p.(Leu355Arg) NC_000016.10:16202112:A:C Identity +NM_001171.6:c.1964A>G NP_001162.5:p.Gln655Arg NC_000016.10:16182909:T:C p.(Gln655Arg) NC_000016.10:16182909:T:C p.(Gln655Arg) NC_000016.10:16182909:T:C Identity +NM_032119.4:c.12798T>A NP_115495.3:p.Tyr4266Ter NC_000005.10:90778557:T:A p.(Tyr4266Ter) NC_000005.10:90778557:T:A p.(Tyr4266Ter) NC_000005.10:90778557:T:A Identity +NM_001025580.2:c.429T>A NP_001020751.1:p.Tyr143Ter NC_000023.11:110317642:A:T p.(Tyr143Ter) NC_000023.11:110317642:A:T p.(Tyr143Ter) NC_000023.11:110317642:A:T Identity +NM_000179.3:c.3822dup NP_000170.1:p.Cys1275fs NC_000002.12:47806470:AA:AAA p.(Cys1275MetfsTer2) NC_000002.12:47806470:AA:AAA p.(Cys1275MetfsTer2) ERR:SPDI Analogous +NM_001171.6:c.1465C>T NP_001162.5:p.Arg489Trp NC_000016.10:16190333:G:A p.(Arg489Trp) NC_000016.10:16190333:G:A p.(Arg489Trp) NC_000016.10:16190333:G:A Identity +NM_001194998.2:c.3149T>C NP_001181927.1:p.Leu1050Pro NC_000015.10:48756098:A:G p.(Leu1050Pro) NC_000015.10:48756098:A:G p.(Leu1050Pro) NC_000015.10:48756098:A:G Identity +NM_133378.4:c.2691G>C NP_596869.4:p.Glu897Asp NC_000002.12:178784153:C:G p.(Glu897Asp) NC_000002.12:178784153:C:G p.(Glu897Asp) NC_000002.12:178784153:C:G Identity +NM_000372.5:c.452T>G NP_000363.1:p.Ile151Ser NC_000011.10:89178404:T:G p.(Ile151Ser) NC_000011.10:89178404:T:G p.(Ile151Ser) NC_000011.10:89178404:T:G Identity +NM_017890.5:c.11906C>A NP_060360.3:p.Pro3969His NC_000008.11:99875502:C:A p.(Pro3969His) NC_000008.11:99875502:C:A p.(Pro3969His) NC_000008.11:99875502:C:A Identity +LRG_155t1:c.685C>T LRG_155p1:p.Arg229Ter NC_000001.11:207767023:C:T ERR:Data provider error: ValueError: Transcript LRG_155t1 not found ERR:Data provider error: ValueError: Transcript LRG_155t1 not found ERR:AlignmentMapper(tx_ac=LRG_155t1, alt_ac=LRG_155t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_155t1, alt_ac=LRG_155t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_155t1 not found +NM_001127713.1:c.1228G>A NP_001121185.1:p.Gly410Arg NC_000014.9:50628138:G:A p.(Gly410Arg) NC_000014.9:50628138:G:A p.(Gly410Arg) NC_000014.9:50628138:G:A Identity +NM_000070.3:c.590G>T NP_000061.1:p.Arg197Leu NC_000015.10:42387843:G:T p.(Arg197Leu) NC_000015.10:42387843:G:T p.(Arg197Leu) NC_000015.10:42387843:G:T Identity +NM_005198.5:c.263C>T NP_005189.2:p.Pro88Leu NC_000022.11:50582318:G:A p.(Pro88Leu) NC_000022.11:50582318:G:A p.(Pro88Leu) NC_000022.11:50582318:G:A Identity +NM_000083.3:c.1261C>T NP_000074.3:p.Arg421Cys NC_000007.14:143332732:C:T p.(Arg421Cys) NC_000007.14:143332732:C:T p.(Arg421Cys) NC_000007.14:143332732:C:T Identity +NM_000495.5:c.935del NP_000486.1:p.Pro312fs NC_000023.11:108581024:CC:C p.(Pro312LeufsTer34) NC_000023.11:108581024:CC:C p.(Pro312LeufsTer34) NC_000023.11:108581025:C: Analogous +NM_000059.4:c.3776G>A NP_000050.3:p.Ser1259Asn NC_000013.11:32338130:G:A p.(Ser1259Asn) NC_000013.11:32338130:G:A p.(Ser1259Asn) NC_000013.11:32338130:G:A Identity +NM_000492.4:c.1469del NP_000483.3:p.Phe490fs NC_000007.14:117559538:TT:T p.(Phe490SerfsTer37) NC_000007.14:117559538:TT:T p.(Phe490SerfsTer37) NC_000007.14:117559539:T: Analogous +NM_000179.3:c.1254_1255del NP_000170.1:p.Gln419fs NC_000002.12:47799234:TCTC:TC p.(Gln419GlufsTer3) NC_000002.12:47799234:TCTC:TC p.(Gln419GlufsTer3) NC_000002.12:47799236:TC: Analogous +NM_000180.4:c.901_908del NP_000171.1:p.Leu301fs NC_000017.11:8004027:CAGCTTCGCAG:CAG p.(Leu301GlyfsTer15) NC_000017.11:8004027:CAGCTTCGCAG:CAG p.(Leu301GlyfsTer15) NC_000017.11:8004030:CTTCGCAG: Analogous +NM_206933.4:c.13576C>T NP_996816.3:p.Arg4526Ter NC_000001.11:215674334:G:A p.(Arg4526Ter) NC_000001.11:215674334:G:A p.(Arg4526Ter) NC_000001.11:215674334:G:A Identity +NM_001164317.2:c.4810G>A NP_001157789.1:p.Asp1604Asn NC_000003.12:58136023:G:A p.(Asp1604Asn) NC_000003.12:58136023:G:A p.(Asp1604Asn) NC_000003.12:58136023:G:A Identity +NM_001291860.2:c.5818G>A NP_001278789.1:p.Ala1940Thr NC_000001.11:21855561:C:T p.(Ala1940Thr) NC_000001.11:21855561:C:T p.(Ala1940Thr) NC_000001.11:21855561:C:T Identity +NM_001126131.2:c.2468G>A NP_001119603.1:p.Arg823His NC_000015.10:89321973:C:T p.(Arg823His) NC_000015.10:89321973:C:T p.(Arg823His) NC_000015.10:89321973:C:T Identity +NM_001128166.3:c.298C>T NP_001121638.1:p.Arg100Ter NC_000023.11:111147757:C:T p.(Arg100Ter) NC_000023.11:111147757:C:T p.(Arg100Ter) NC_000023.11:111147757:C:T Identity +NM_000444.6:c.1952G>C NP_000435.3:p.Arg651Pro NC_000023.11:22226494:G:C p.(Arg651Pro) NC_000023.11:22226494:G:C p.(Arg651Pro) NC_000023.11:22226494:G:C Identity +NM_001286164.2:c.3283A>C NP_001273093.1:p.Met1095Leu NC_000001.11:176882937:T:G p.(Met1095Leu) NC_000001.11:176882937:T:G p.(Met1095Leu) NC_000001.11:176882937:T:G Identity +NM_001297764.2:c.701C>T NP_001284693.1:p.Pro234Leu NC_000011.10:17524508:G:A p.(Pro234Leu) NC_000011.10:17524508:G:A p.(Pro234Leu) NC_000011.10:17524508:G:A Identity +NM_001145853.1:c.1724C>G NP_001139325.1:p.Ala575Gly NC_000004.12:6301518:C:G p.(Ala575Gly) NC_000004.12:6301518:C:G p.(Ala575Gly) NC_000004.12:6301518:C:G Identity +NM_000296.4:c.5855dup NP_000287.4:p.Lys1953fs NC_000016.10:2109311:CCCC:CCCCC p.(Lys1953GlnfsTer37) NC_000016.10:2109311:CCCC:CCCCC p.(Lys1953GlnfsTer37) ERR:SPDI Analogous +NM_001085458.2:c.606del NP_001078927.1:p.Pro203fs NC_000011.10:57796640:TT:T p.(Pro203LeufsTer32) NC_000011.10:57796640:TT:T p.(Pro203LeufsTer32) NC_000011.10:57796641:T: Analogous +NM_000527.5:c.1937T>A NP_000518.1:p.Leu646Gln NC_000019.10:11120182:T:A p.(Leu646Gln) NC_000019.10:11120182:T:A p.(Leu646Gln) NC_000019.10:11120182:T:A Identity +NM_004589.4:c.5C>A NP_004580.1:p.Ala2Glu NC_000017.11:10697502:G:T p.(Ala2Glu) NC_000017.11:10697502:G:T p.(Ala2Glu) NC_000017.11:10697502:G:T Identity +NM_001351527.2:c.5501A>G NP_001338456.1:p.His1834Arg NC_000009.12:132300676:T:C p.(His1834Arg) NC_000009.12:132300676:T:C p.(His1834Arg) NC_000009.12:132300676:T:C Identity +NM_000023.4:c.349C>T NP_000014.1:p.Arg117Trp NC_000017.11:50167982:C:T p.(Arg117Trp) NC_000017.11:50167982:C:T p.(Arg117Trp) NC_000017.11:50167982:C:T Identity +NM_000059.4:c.5073A>T NP_000050.3:p.Lys1691Asn NC_000013.11:32339427:A:T p.(Lys1691Asn) NC_000013.11:32339427:A:T p.(Lys1691Asn) NC_000013.11:32339427:A:T Identity +NM_001025201.4:c.1223C>T NP_001020372.2:p.Ala408Val NC_000002.12:174800194:G:A p.(Ala408Val) NC_000002.12:174800194:G:A p.(Ala408Val) NC_000002.12:174800194:G:A Identity +NM_000527.5:c.2011del NP_000518.1:p.Thr671fs NC_000019.10:11120392:A: p.(Thr671ProfsTer2) NC_000019.10:11120392:A: p.(Thr671ProfsTer2) NC_000019.10:11120392:A: Analogous +NM_001407861.1:c.801C>G NP_001394790.1:p.Asn267Lys NC_000017.11:43094726:G:C p.(Asn267Lys) NC_000017.11:43094726:G:C p.(Asn267Lys) NC_000017.11:43094726:G:C Identity +NM_000059.4:c.8194T>G NP_000050.3:p.Leu2732Val NC_000013.11:32363395:T:G p.(Leu2732Val) NC_000013.11:32363395:T:G p.(Leu2732Val) NC_000013.11:32363395:T:G Identity +NM_001135.4:c.1193T>A NP_001126.3:p.Ile398Asn NC_000015.10:88845645:T:A p.(Ile398Asn) NC_000015.10:88845645:T:A p.(Ile398Asn) NC_000015.10:88845645:T:A Identity +NM_000340.2:c.1331G>A NP_000331.1:p.Trp444Ter NC_000003.12:170998235:C:T p.(Trp444Ter) NC_000003.12:170998235:C:T p.(Trp444Ter) NC_000003.12:170998235:C:T Identity +LRG_1137t1:c.1219A>G LRG_1137p1:p.Arg407Gly NC_000016.10:88736715:T:C ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1137t1, alt_ac=LRG_1137t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1137t1 not found +NM_000296.4:c.3496G>A NP_000287.4:p.Gly1166Ser NC_000016.10:2111670:C:T p.(Gly1166Ser) NC_000016.10:2111670:C:T p.(Gly1166Ser) NC_000016.10:2111670:C:T Identity +NM_001177984.3:c.4717A>G NP_001171455.1:p.Thr1573Ala NC_000012.12:51806325:A:G p.(Thr1573Ala) NC_000012.12:51806325:A:G p.(Thr1573Ala) NC_000012.12:51806325:A:G Identity +NM_000314.8:c.721T>C NP_000305.3:p.Phe241Leu NC_000010.11:87957938:T:C p.(Phe241Leu) NC_000010.11:87957938:T:C p.(Phe241Leu) NC_000010.11:87957938:T:C Identity +LRG_369t1:c.2533A>G LRG_369p1:p.Ile845Val NC_000002.12:166277290:T:C ERR:Data provider error: ValueError: Transcript LRG_369t1 not found ERR:Data provider error: ValueError: Transcript LRG_369t1 not found ERR:AlignmentMapper(tx_ac=LRG_369t1, alt_ac=LRG_369t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_369t1, alt_ac=LRG_369t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_369t1 not found +NM_000355.4:c.766_767dup NP_000346.2:p.Met258fs NC_000022.11:30615612:TC:TCTC p.(Met258ProfsTer32) NC_000022.11:30615612:TC:TCTC p.(Met258ProfsTer32) ERR:SPDI Analogous +NM_000527.5:c.300C>G NP_000518.1:p.Asp100Glu NC_000019.10:11102772:C:G p.(Asp100Glu) NC_000019.10:11102772:C:G p.(Asp100Glu) NC_000019.10:11102772:C:G Identity +NM_000527.5:c.1064dup NP_000518.1:p.Asp356fs NC_000019.10:11111516:T:TT p.(Asp356ArgfsTer2) NC_000019.10:11111516:T:TT p.(Asp356ArgfsTer2) ERR:SPDI Analogous +NM_000527.5:c.2263del NP_000518.1:p.Ala755fs NC_000019.10:11123292:GGGG:GGG p.(Ala755ProfsTer10) NC_000019.10:11123292:GGGG:GGG p.(Ala755ProfsTer10) NC_000019.10:11123295:G: Analogous +NM_001281302.2:c.371A>C NP_001268231.1:p.Tyr124Ser NC_000005.10:74758877:T:G p.(Tyr124Ser) NC_000005.10:74758877:T:G p.(Tyr124Ser) NC_000005.10:74758877:T:G Identity +NM_005651.4:c.324G>C NP_005642.1:p.Met108Ile NC_000004.12:155908906:G:C p.(Met108Ile) NC_000004.12:155908906:G:C p.(Met108Ile) NC_000004.12:155908906:G:C Identity +NM_001407612.1:c.1615del NP_001394541.1:p.Glu539fs NC_000017.11:43093912:CC:C p.(Glu539SerfsTer6) NC_000017.11:43093912:CC:C p.(Glu539SerfsTer6) NC_000017.11:43093912:C: Analogous +NM_000059.4:c.5846del NP_000050.3:p.Asp1949fs NC_000013.11:32340200:A: p.(Asp1949ValfsTer14) NC_000013.11:32340200:A: p.(Asp1949ValfsTer14) NC_000013.11:32340200:A: Analogous +NM_006516.4:c.482A>G NP_006507.2:p.Gln161Arg NC_000001.11:42930659:T:C p.(Gln161Arg) NC_000001.11:42930659:T:C p.(Gln161Arg) NC_000001.11:42930659:T:C Identity +NM_001273.5:c.1336G>A NP_001264.2:p.Asp446Asn NC_000012.12:6599918:C:T p.(Asp446Asn) NC_000012.12:6599918:C:T p.(Asp446Asn) NC_000012.12:6599918:C:T Identity +NM_000086.2:c.676A>G NP_000077.1:p.Ser226Gly NC_000016.10:28486347:T:C p.(Ser226Gly) NC_000016.10:28486347:T:C p.(Ser226Gly) NC_000016.10:28486347:T:C Identity +LRG_216t1:c.827_831del LRG_216p1:p.Ile276fs NC_000003.12:37017540:ATAGAA:A ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:Data provider error: ValueError: Transcript LRG_216t1 not found ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_216t1, alt_ac=LRG_216t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_216t1 not found +NM_000179.3:c.3964G>T NP_000170.1:p.Glu1322Ter NC_000002.12:47806613:G:T p.(Glu1322Ter) NC_000002.12:47806613:G:T p.(Glu1322Ter) NC_000002.12:47806613:G:T Identity +NM_000296.4:c.7375G>T NP_000287.4:p.Gly2459Cys NC_000016.10:2106511:C:A p.(Gly2459Cys) NC_000016.10:2106511:C:A p.(Gly2459Cys) NC_000016.10:2106511:C:A Identity +NM_001363813.1:c.1397C>G NP_001350742.1:p.Ser466Cys NC_000017.11:65537638:G:C p.(Ser466Cys) NC_000017.11:65537638:G:C p.(Ser466Cys) NC_000017.11:65537638:G:C Identity +NM_005559.4:c.7354A>T NP_005550.2:p.Lys2452Ter NC_000018.10:6962042:T:A p.(Lys2452Ter) NC_000018.10:6962042:T:A p.(Lys2452Ter) NC_000018.10:6962042:T:A Identity +NM_000182.5:c.727G>T NP_000173.2:p.Val243Phe NC_000002.12:26215124:C:A p.(Val243Phe) NC_000002.12:26215124:C:A p.(Val243Phe) NC_000002.12:26215124:C:A Identity +NM_001033024.2:c.1309G>C NP_001028196.1:p.Asp437His NC_000022.11:32498506:G:C p.(Asp437His) NC_000022.11:32498506:G:C p.(Asp437His) NC_000022.11:32498506:G:C Identity +NM_001077186.2:c.5608C>T NP_001070654.1:p.Arg1870Cys NC_000019.10:50307076:C:T p.(Arg1870Cys) NC_000019.10:50307076:C:T p.(Arg1870Cys) NC_000019.10:50307076:C:T Identity +NM_004553.6:c.29T>G NP_004544.1:p.Leu10Arg NC_000005.10:1801445:T:G p.(Leu10Arg) NC_000005.10:1801445:T:G p.(Leu10Arg) NC_000005.10:1801445:T:G Identity +NM_001329533.2:c.14C>G NP_001316462.1:p.Pro5Arg NC_000019.10:1912108:C:G p.(Pro5Arg) NC_000019.10:1912108:C:G p.(Pro5Arg) NC_000019.10:1912108:C:G Identity +NM_001326607.2:c.16G>C NP_001313536.1:p.Val6Leu NC_000007.14:6009378:G:C p.(Val6Leu) NC_000007.14:6009378:G:C p.(Val6Leu) NC_000007.14:6009378:G:C Identity +NM_000340.2:c.1246G>A NP_000331.1:p.Gly416Ser NC_000003.12:170998320:C:T p.(Gly416Ser) NC_000003.12:170998320:C:T p.(Gly416Ser) NC_000003.12:170998320:C:T Identity +NM_000520.6:c.1490A>G NP_000511.2:p.Tyr497Cys NC_000015.10:72345481:T:C p.(Tyr497Cys) NC_000015.10:72345481:T:C p.(Tyr497Cys) NC_000015.10:72345481:T:C Identity +NM_002661.5:c.2542C>T NP_002652.2:p.Leu848Phe NC_000016.10:81928584:C:T p.(Leu848Phe) NC_000016.10:81928584:C:T p.(Leu848Phe) NC_000016.10:81928584:C:T Identity +NM_032409.3:c.587C>T NP_115785.1:p.Pro196Leu NC_000001.11:20638040:C:T p.(Pro196Leu) NC_000001.11:20638040:C:T p.(Pro196Leu) NC_000001.11:20638040:C:T Identity +NM_000020.3:c.599G>A NP_000011.2:p.Arg200Gln NC_000012.12:51914046:G:A p.(Arg200Gln) NC_000012.12:51914046:G:A p.(Arg200Gln) NC_000012.12:51914046:G:A Identity +NM_001278064.2:c.3214C>G NP_001264993.1:p.Pro1072Ala NC_000006.12:146434424:C:G p.(Pro1072Ala) NC_000006.12:146434424:C:G p.(Pro1072Ala) NC_000006.12:146434424:C:G Identity +NM_001605.3:c.922G>A NP_001596.2:p.Ala308Thr NC_000016.10:70269657:C:T p.(Ala308Thr) NC_000016.10:70269657:C:T p.(Ala308Thr) NC_000016.10:70269657:C:T Identity +NM_000270.4:c.649G>A NP_000261.2:p.Val217Ile NC_000014.9:20475248:G:A p.(Val217Ile) NC_000014.9:20475248:G:A p.(Val217Ile) NC_000014.9:20475248:G:A Identity +NM_000068.4:c.1039G>A NP_000059.3:p.Gly347Ser NC_000019.10:13335848:C:T p.(Gly347Ser) NC_000019.10:13335848:C:T p.(Gly347Ser) NC_000019.10:13335848:C:T Identity +NM_016343.4:c.2398A>G NP_057427.3:p.Ile800Val NC_000001.11:214640735:A:G p.(Ile800Val) NC_000001.11:214640735:A:G p.(Ile800Val) NC_000001.11:214640735:A:G Identity +NM_001080463.2:c.1657_1660del NP_001073932.1:p.Leu553fs NC_000011.10:103122993:GTTTGT:GT p.(Leu553ValfsTer18) NC_000011.10:103122993:GTTTGT:GT p.(Leu553ValfsTer18) NC_000011.10:103122995:TTGT: Analogous +NM_052844.4:c.1397A>C NP_443076.2:p.Gln466Pro NC_000009.12:128633957:T:G p.(Gln466Pro) NC_000009.12:128633957:T:G p.(Gln466Pro) NC_000009.12:128633957:T:G Identity +NM_001317924.2:c.2083C>T NP_001304853.1:p.Gln695Ter NC_000004.12:39244469:C:T p.(Gln695Ter) NC_000004.12:39244469:C:T p.(Gln695Ter) NC_000004.12:39244469:C:T Identity +NM_006796.3:c.1984G>T NP_006787.2:p.Val662Phe NC_000018.10:12337531:C:A p.(Val662Phe) NC_000018.10:12337531:C:A p.(Val662Phe) NC_000018.10:12337531:C:A Identity +NM_001109974.3:c.814C>T NP_001103444.1:p.Pro272Ser NC_000005.10:150649088:C:T p.(Pro272Ser) NC_000005.10:150649088:C:T p.(Pro272Ser) NC_000005.10:150649088:C:T Identity +NM_000500.9:c.1439G>T NP_000491.4:p.Arg480Leu NC_000006.12:32041084:G:T p.(Arg480Leu) NC_000006.12:32041084:G:T p.(Arg480Leu) NC_000006.12:32041084:G:T Identity +NM_005334.3:c.2974G>A NP_005325.2:p.Ala992Thr NC_000023.11:153955424:C:T p.(Ala992Thr) NC_000023.11:153955424:C:T p.(Ala992Thr) NC_000023.11:153955424:C:T Identity +NM_000726.5:c.1470A>T NP_000717.2:p.Glu490Asp NC_000002.12:151839211:T:A p.(Glu490Asp) NC_000002.12:151839211:T:A p.(Glu490Asp) NC_000002.12:151839211:T:A Identity +NM_000388.4:c.823_824del NP_000379.3:p.Asp275fs NC_000003.12:122261856:AGA:A p.(Asp275SerfsTer2) NC_000003.12:122261856:AGA:A p.(Asp275SerfsTer2) NC_000003.12:122261857:GA: Analogous +NM_000085.5:c.1511C>T NP_000076.2:p.Ala504Val NC_000001.11:16052299:C:T p.(Ala504Val) NC_000001.11:16052299:C:T p.(Ala504Val) NC_000001.11:16052299:C:T Identity +NM_000109.4:c.1286C>G NP_000100.3:p.Ala429Gly NC_000023.11:32644152:G:C p.(Ala429Gly) NC_000023.11:32644152:G:C p.(Ala429Gly) NC_000023.11:32644152:G:C Identity +NM_000545.8:c.814C>T NP_000536.6:p.Arg272Cys NC_000012.12:120994263:C:T p.(Arg272Cys) NC_000012.12:120994263:C:T p.(Arg272Cys) NC_000012.12:120994263:C:T Identity +NM_001320269.2:c.517T>C NP_001307198.1:p.Tyr173His NC_000001.11:62263229:A:G p.(Tyr173His) NC_000001.11:62263229:A:G p.(Tyr173His) NC_000001.11:62263229:A:G Identity +NM_000435.3:c.1672C>T NP_000426.2:p.Arg558Cys NC_000019.10:15187272:G:A p.(Arg558Cys) NC_000019.10:15187272:G:A p.(Arg558Cys) NC_000019.10:15187272:G:A Identity +NM_000435.3:c.350G>A NP_000426.2:p.Cys117Tyr NC_000019.10:15192288:C:T p.(Cys117Tyr) NC_000019.10:15192288:C:T p.(Cys117Tyr) NC_000019.10:15192288:C:T Identity +NM_000781.3:c.650A>C NP_000772.2:p.Glu217Ala NC_000015.10:74343967:T:G p.(Glu217Ala) NC_000015.10:74343967:T:G p.(Glu217Ala) NC_000015.10:74343967:T:G Identity +NM_001376.5:c.11045G>A NP_001367.2:p.Arg3682Gln NC_000014.9:102038595:G:A p.(Arg3682Gln) NC_000014.9:102038595:G:A p.(Arg3682Gln) NC_000014.9:102038595:G:A Identity +NM_001114636.2:c.235G>A NP_001108108.1:p.Asp79Asn NC_000002.12:58226765:C:T p.(Asp79Asn) NC_000002.12:58226765:C:T p.(Asp79Asn) NC_000002.12:58226765:C:T Identity +NM_001077365.2:c.574_575del NP_001070833.1:p.Leu192fs NC_000009.12:131509776:CT: p.(Leu192AspfsTer139) NC_000009.12:131509776:CT: p.(Leu192AspfsTer139) NC_000009.12:131509776:CT: Analogous +NM_001165963.4:c.4952A>C NP_001159435.1:p.Lys1651Thr NC_000002.12:165992322:T:G p.(Lys1651Thr) NC_000002.12:165992322:T:G p.(Lys1651Thr) NC_000002.12:165992322:T:G Identity +NM_000334.4:c.307T>G NP_000325.4:p.Phe103Val NC_000017.11:63972436:A:C p.(Phe103Val) NC_000017.11:63972436:A:C p.(Phe103Val) NC_000017.11:63972436:A:C Identity +NM_001080463.2:c.8050G>T NP_001073932.1:p.Gly2684Ter NC_000011.10:103199437:G:T p.(Gly2684Ter) NC_000011.10:103199437:G:T p.(Gly2684Ter) NC_000011.10:103199437:G:T Identity +NM_000388.4:c.2101del NP_000379.3:p.Arg701fs NC_000003.12:122284053:CC:C p.(Arg701ValfsTer40) NC_000003.12:122284053:CC:C p.(Arg701ValfsTer40) NC_000003.12:122284054:C: Analogous +NM_000109.4:c.395T>G NP_000100.3:p.Leu132Arg NC_000023.11:32816578:A:C p.(Leu132Arg) NC_000023.11:32816578:A:C p.(Leu132Arg) NC_000023.11:32816578:A:C Identity +NM_000162.5:c.911T>C NP_000153.1:p.Leu304Pro NC_000007.14:44146570:A:G p.(Leu304Pro) NC_000007.14:44146570:A:G p.(Leu304Pro) NC_000007.14:44146570:A:G Identity +NM_001127660.2:c.608T>C NP_001121132.1:p.Ile203Thr NC_000001.11:11998777:T:C p.(Ile203Thr) NC_000001.11:11998777:T:C p.(Ile203Thr) NC_000001.11:11998777:T:C Identity +NM_000530.8:c.104A>G NP_000521.2:p.Asp35Gly NC_000001.11:161307387:T:C p.(Asp35Gly) NC_000001.11:161307387:T:C p.(Asp35Gly) NC_000001.11:161307387:T:C Identity +NM_000435.3:c.3575C>T NP_000426.2:p.Thr1192Ile NC_000019.10:15179167:G:A p.(Thr1192Ile) NC_000019.10:15179167:G:A p.(Thr1192Ile) NC_000019.10:15179167:G:A Identity +NM_000209.4:c.719C>G NP_000200.1:p.Pro240Arg NC_000013.11:27924567:C:G p.(Pro240Arg) NC_000013.11:27924567:C:G p.(Pro240Arg) NC_000013.11:27924567:C:G Identity +NM_001316329.2:c.1081A>C NP_001303258.1:p.Ser361Arg NC_000019.10:53898099:A:C p.(Ser361Arg) NC_000019.10:53898099:A:C p.(Ser361Arg) NC_000019.10:53898099:A:C Identity +NM_005055.5:c.775C>T NP_005046.2:p.Arg259Cys NC_000011.10:47441836:G:A p.(Arg259Cys) NC_000011.10:47441836:G:A p.(Arg259Cys) NC_000011.10:47441836:G:A Identity +NM_001040142.2:c.2225G>A NP_001035232.1:p.Cys742Tyr NC_000002.12:165331404:G:A p.(Cys742Tyr) NC_000002.12:165331404:G:A p.(Cys742Tyr) NC_000002.12:165331404:G:A Identity +NM_000334.4:c.3932T>G NP_000325.4:p.Phe1311Cys NC_000017.11:63943830:A:C p.(Phe1311Cys) NC_000017.11:63943830:A:C p.(Phe1311Cys) NC_000017.11:63943830:A:C Identity +NM_024747.6:c.254C>T NP_079023.2:p.Pro85Leu NC_000010.11:102065727:C:T p.(Pro85Leu) NC_000010.11:102065727:C:T p.(Pro85Leu) NC_000010.11:102065727:C:T Identity +NM_000197.2:c.599C>T NP_000188.1:p.Ala200Val NC_000009.12:96245351:G:A p.(Ala200Val) NC_000009.12:96245351:G:A p.(Ala200Val) NC_000009.12:96245351:G:A Identity +NM_001293640.2:c.416G>A NP_001280569.1:p.Arg139Lys NC_000012.12:105115708:G:A p.(Arg139Lys) NC_000012.12:105115708:G:A p.(Arg139Lys) NC_000012.12:105115708:G:A Identity +NM_001008537.3:c.206C>T NP_001008537.1:p.Ser69Phe NC_000023.11:74744350:G:A p.(Ser69Phe) NC_000023.11:74744350:G:A p.(Ser69Phe) NC_000023.11:74744350:G:A Identity +NM_000425.5:c.1759G>C NP_000416.1:p.Gly587Arg NC_000023.11:153868066:C:G p.(Gly587Arg) NC_000023.11:153868066:C:G p.(Gly587Arg) NC_000023.11:153868066:C:G Identity +LRG_510t1:c.1513A>C LRG_510p1:p.Ser505Arg NC_000001.11:43349306:A:C ERR:Data provider error: ValueError: Transcript LRG_510t1 not found ERR:Data provider error: ValueError: Transcript LRG_510t1 not found ERR:AlignmentMapper(tx_ac=LRG_510t1, alt_ac=LRG_510t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_510t1, alt_ac=LRG_510t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_510t1 not found +NM_001330209.2:c.982C>G NP_001317138.1:p.Leu328Val NC_000023.11:13753413:C:G p.(Leu328Val) NC_000023.11:13753413:C:G p.(Leu328Val) NC_000023.11:13753413:C:G Identity +NM_012414.4:c.1030A>G NP_036546.2:p.Asn344Asp NC_000001.11:220195307:T:C p.(Asn344Asp) NC_000001.11:220195307:T:C p.(Asn344Asp) NC_000001.11:220195307:T:C Identity +NM_001365999.1:c.8039G>A NP_001352928.1:p.Arg2680His NC_000001.11:43442505:G:A p.(Arg2680His) NC_000001.11:43442505:G:A p.(Arg2680His) NC_000001.11:43442505:G:A Identity +NM_003184.4:c.1655A>T NP_003175.2:p.Tyr552Phe NC_000008.11:119788817:T:A p.(Tyr552Phe) NC_000008.11:119788817:T:A p.(Tyr552Phe) NC_000008.11:119788817:T:A Identity +NM_001278716.2:c.643G>C NP_001265645.1:p.Glu215Gln NC_000006.12:98917588:C:G p.(Glu215Gln) NC_000006.12:98917588:C:G p.(Glu215Gln) NC_000006.12:98917588:C:G Identity +NM_001278716.2:c.737T>C NP_001265645.1:p.Ile246Thr NC_000006.12:98917494:A:G p.(Ile246Thr) NC_000006.12:98917494:A:G p.(Ile246Thr) NC_000006.12:98917494:A:G Identity +NM_001256789.3:c.1305_1306insT NP_001243718.1:p.Arg436Ter NC_000023.11:49226673::A p.(Arg436Ter) NC_000023.11:49226672:T:A p.(Arg436Ter) NC_000023.11:49226673:TC:A Identity +NM_001080517.3:c.2508dup NP_001073986.1:p.Arg837fs NC_000003.12:9464455:T:TT p.(Arg837SerfsTer63) NC_000003.12:9464455:T:TT p.(Arg837SerfsTer63) ERR:SPDI Analogous +NM_000444.6:c.1754G>A NP_000435.3:p.Gly585Glu NC_000023.11:22219088:G:A p.(Gly585Glu) NC_000023.11:22219088:G:A p.(Gly585Glu) NC_000023.11:22219088:G:A Identity +NM_001368918.2:c.142G>C NP_001355847.1:p.Val48Leu NC_000011.10:31802702:C:G p.(Val48Leu) NC_000011.10:31802702:C:G p.(Val48Leu) NC_000011.10:31802702:C:G Identity +NM_000059.4:c.200G>C NP_000050.3:p.Arg67Thr NC_000013.11:32319208:G:C p.(Arg67Thr) NC_000013.11:32319208:G:C p.(Arg67Thr) NC_000013.11:32319208:G:C Identity +NM_000075.4:c.155G>A NP_000066.1:p.Ser52Asn NC_000012.12:57751562:C:T p.(Ser52Asn) NC_000012.12:57751562:C:T p.(Ser52Asn) NC_000012.12:57751562:C:T Identity +NM_000517.6:c.326C>A NP_000508.1:p.Thr109Asn NC_000016.10:173496:C:A p.(Thr109Asn) NC_000016.10:173496:C:A p.(Thr109Asn) NC_000016.10:173496:C:A Identity +NM_000535.7:c.1390G>A NP_000526.2:p.Asp464Asn NC_000007.14:5987374:C:T p.(Asp464Asn) NC_000007.14:5987374:C:T p.(Asp464Asn) NC_000007.14:5987374:C:T Identity +NM_000118.4:c.727G>A NP_000109.1:p.Ala243Thr NC_000009.12:127825319:C:T p.(Ala243Thr) NC_000009.12:127825319:C:T p.(Ala243Thr) NC_000009.12:127825319:C:T Identity +NM_000138.5:c.1825C>T NP_000129.3:p.Arg609Cys NC_000015.10:48508593:G:A p.(Arg609Cys) NC_000015.10:48508593:G:A p.(Arg609Cys) NC_000015.10:48508593:G:A Identity +NM_001243246.2:c.2125G>T NP_001230175.1:p.Ala709Ser NC_000001.11:42747201:C:A p.(Ala709Ser) NC_000001.11:42747201:C:A p.(Ala709Ser) NC_000001.11:42747201:C:A Identity +NM_001365536.1:c.2521C>T NP_001352465.1:p.Arg841Ter NC_000002.12:166277335:G:A p.(Arg841Ter) NC_000002.12:166277335:G:A p.(Arg841Ter) NC_000002.12:166277335:G:A Identity +NM_000059.4:c.7240T>G NP_000050.3:p.Ser2414Ala NC_000013.11:32355092:T:G p.(Ser2414Ala) NC_000013.11:32355092:T:G p.(Ser2414Ala) NC_000013.11:32355092:T:G Identity +NM_000059.4:c.5200G>C NP_000050.3:p.Glu1734Gln NC_000013.11:32339554:G:C p.(Glu1734Gln) NC_000013.11:32339554:G:C p.(Glu1734Gln) NC_000013.11:32339554:G:C Identity +NM_000115.5:c.879dup NP_000106.1:p.Thr294fs NC_000013.11:77901129:A:AA p.(Thr294TyrfsTer6) NC_000013.11:77901129:A:AA p.(Thr294TyrfsTer6) ERR:SPDI Analogous +NM_001846.4:c.4357G>T NP_001837.2:p.Gly1453Ter NC_000013.11:110504218:G:T p.(Gly1453Ter) NC_000013.11:110504218:G:T p.(Gly1453Ter) NC_000013.11:110504218:G:T Identity +NM_000833.5:c.2069C>T NP_000824.1:p.Thr690Met NC_000016.10:9822362:G:A p.(Thr690Met) NC_000016.10:9822362:G:A p.(Thr690Met) NC_000016.10:9822362:G:A Identity +NM_000046.5:c.281C>T NP_000037.2:p.Ser94Leu NC_000005.10:78984967:G:A p.(Ser94Leu) NC_000005.10:78984967:G:A p.(Ser94Leu) NC_000005.10:78984967:G:A Identity +NM_001277742.2:c.1034C>G NP_001264671.1:p.Ala345Gly NC_000002.12:72132506:G:C p.(Ala345Gly) NC_000002.12:72132506:G:C p.(Ala345Gly) NC_000002.12:72132506:G:C Identity +NM_001190880.3:c.302G>A NP_001177809.1:p.Gly101Asp NC_000001.11:43453394:C:T p.(Gly101Asp) NC_000001.11:43453394:C:T p.(Gly101Asp) NC_000001.11:43453394:C:T Identity +NM_207346.3:c.1078G>A NP_997229.2:p.Ala360Thr NC_000017.11:75522158:G:A p.(Ala360Thr) NC_000017.11:75522158:G:A p.(Ala360Thr) NC_000017.11:75522158:G:A Identity +NM_001351693.2:c.2131G>A NP_001338622.1:p.Ala711Thr NC_000019.10:39423361:G:A p.(Ala711Thr) NC_000019.10:39423361:G:A p.(Ala711Thr) NC_000019.10:39423361:G:A Identity +NM_001287489.2:c.2882A>G NP_001274418.1:p.Gln961Arg NC_000002.12:26476022:T:C p.(Gln961Arg) NC_000002.12:26476022:T:C p.(Gln961Arg) NC_000002.12:26476022:T:C Identity +NM_001349655.2:c.1997A>C NP_001336584.1:p.Asp666Ala NC_000013.11:72965349:A:C p.(Asp666Ala) NC_000013.11:72965349:A:C p.(Asp666Ala) NC_000013.11:72965349:A:C Identity +NM_001447.3:c.10946G>A NP_001438.1:p.Arg3649Gln NC_000005.10:151521646:C:T p.(Arg3649Gln) NC_000005.10:151521646:C:T p.(Arg3649Gln) NC_000005.10:151521646:C:T Identity +NM_001127222.2:c.7291G>A NP_001120694.1:p.Ala2431Thr NC_000019.10:13207542:C:T p.(Ala2431Thr) NC_000019.10:13207542:C:T p.(Ala2431Thr) NC_000019.10:13207542:C:T Identity +NM_000162.5:c.469G>A NP_000153.1:p.Glu157Lys NC_000007.14:44150969:C:T p.(Glu157Lys) NC_000007.14:44150969:C:T p.(Glu157Lys) NC_000007.14:44150969:C:T Identity +NM_000545.8:c.392G>T NP_000536.6:p.Arg131Leu NC_000012.12:120988897:G:T p.(Arg131Leu) NC_000012.12:120988897:G:T p.(Arg131Leu) NC_000012.12:120988897:G:T Identity +NM_000426.4:c.488A>T NP_000417.3:p.Tyr163Phe NC_000006.12:129098263:A:T p.(Tyr163Phe) NC_000006.12:129098263:A:T p.(Tyr163Phe) NC_000006.12:129098263:A:T Identity +NM_001127660.2:c.1988G>T NP_001121132.1:p.Arg663Leu NC_000001.11:12007167:G:T p.(Arg663Leu) NC_000001.11:12007167:G:T p.(Arg663Leu) NC_000001.11:12007167:G:T Identity +NM_000435.3:c.2645C>G NP_000426.2:p.Pro882Arg NC_000019.10:15181722:G:C p.(Pro882Arg) NC_000019.10:15181722:G:C p.(Pro882Arg) NC_000019.10:15181722:G:C Identity +NM_001008211.1:c.46C>G NP_001008212.1:p.Pro16Ala NC_000010.11:13109167:C:G p.(Pro16Ala) NC_000010.11:13109167:C:G p.(Pro16Ala) NC_000010.11:13109167:C:G Identity +NM_000296.4:c.11055_11074del NP_000287.4:p.Ala3686fs NC_000016.10:2093032:AGGCATCCCCATAGCTGGCCAG:AG p.(Ala3686MetfsTer28) NC_000016.10:2093032:AGGCATCCCCATAGCTGGCCAG:AG p.(Ala3686MetfsTer28) NC_000016.10:2093032:AGGCATCCCCATAGCTGGCC: Analogous +NM_000336.3:c.1595G>A NP_000327.2:p.Gly532Asp NC_000016.10:23380472:G:A p.(Gly532Asp) NC_000016.10:23380472:G:A p.(Gly532Asp) NC_000016.10:23380472:G:A Identity +NM_001351527.2:c.7738G>A NP_001338456.1:p.Val2580Ile NC_000009.12:132264534:C:T p.(Val2580Ile) NC_000009.12:132264534:C:T p.(Val2580Ile) NC_000009.12:132264534:C:T Identity +NM_001160227.2:c.3436A>G NP_001153699.1:p.Ile1146Val NC_000015.10:44608460:T:C p.(Ile1146Val) NC_000015.10:44608460:T:C p.(Ile1146Val) NC_000015.10:44608460:T:C Identity +NM_006946.4:c.2944G>A NP_008877.2:p.Glu982Lys NC_000011.10:66701154:C:T p.(Glu982Lys) NC_000011.10:66701154:C:T p.(Glu982Lys) NC_000011.10:66701154:C:T Identity +NM_000339.3:c.941C>T NP_000330.3:p.Ser314Phe NC_000016.10:56872438:C:T p.(Ser314Phe) NC_000016.10:56872438:C:T p.(Ser314Phe) NC_000016.10:56872438:C:T Identity +NM_006946.4:c.4783C>T NP_008877.2:p.Arg1595Cys NC_000011.10:66693256:G:A p.(Arg1595Cys) NC_000011.10:66693256:G:A p.(Arg1595Cys) NC_000011.10:66693256:G:A Identity +NM_017890.5:c.2764C>T NP_060360.3:p.Pro922Ser NC_000008.11:99275193:C:T p.(Pro922Ser) NC_000008.11:99275193:C:T p.(Pro922Ser) NC_000008.11:99275193:C:T Identity +NM_001354927.2:c.692G>C NP_001341856.1:p.Ser231Thr NC_000009.12:35062334:C:G p.(Ser231Thr) NC_000009.12:35062334:C:G p.(Ser231Thr) NC_000009.12:35062334:C:G Identity +NM_000425.5:c.1983del NP_000416.1:p.Lys661fs NC_000023.11:153867509:TTTTT:TTTT p.(Lys661AsnfsTer32) NC_000023.11:153867509:TTTTT:TTTT p.(Lys661AsnfsTer32) NC_000023.11:153867509:T: Analogous +NM_012327.6:c.2679C>G NP_036459.1:p.Ser893Arg NC_000018.10:62045972:G:C p.(Ser893Arg) NC_000018.10:62045972:G:C p.(Ser893Arg) NC_000018.10:62045972:G:C Identity +LRG_727t1:c.221T>A LRG_727p1:p.Met74Lys NC_000022.11:50529331:A:T ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:Data provider error: ValueError: Transcript LRG_727t1 not found ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_727t1, alt_ac=LRG_727t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_727t1 not found +NM_001135699.2:c.689C>G NP_001129171.1:p.Ser230Trp NC_000008.11:100920741:G:C p.(Ser230Trp) NC_000008.11:100920741:G:C p.(Ser230Trp) NC_000008.11:100920741:G:C Identity +NM_000391.4:c.83G>A NP_000382.3:p.Arg28Gln NC_000011.10:6619201:C:T p.(Arg28Gln) NC_000011.10:6619201:C:T p.(Arg28Gln) NC_000011.10:6619201:C:T Identity +NM_000548.5:c.4220_4221del NP_000539.2:p.Val1407fs NC_000016.10:2084440:GTG:G p.(Val1407GlyfsTer6) NC_000016.10:2084440:GTG:G p.(Val1407GlyfsTer6) NC_000016.10:2084441:TG: Analogous +NM_133378.4:c.36719A>C NP_596869.4:p.Lys12240Thr NC_000002.12:178629301:T:G p.(Lys12240Thr) NC_000002.12:178629301:T:G p.(Lys12240Thr) NC_000002.12:178629301:T:G Identity +NM_001018037.2:c.8108A>G NP_001018047.1:p.His2703Arg NC_000009.12:77365472:A:G p.(His2703Arg) NC_000009.12:77365472:A:G p.(His2703Arg) NC_000009.12:77365472:A:G Identity +LRG_386t1:c.1040G>A LRG_386p1:p.Gly347Asp NC_000011.10:47346256:C:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000530.8:c.400G>A NP_000521.2:p.Asp134Asn NC_000001.11:161306755:C:T p.(Asp134Asn) NC_000001.11:161306755:C:T p.(Asp134Asn) NC_000001.11:161306755:C:T Identity +NM_001909.5:c.131A>T NP_001900.1:p.Glu44Val NC_000011.10:1761405:T:A p.(Glu44Val) NC_000011.10:1761405:T:A p.(Glu44Val) NC_000011.10:1761405:T:A Identity +NM_001031681.3:c.516dup NP_001026851.2:p.Tyr173fs NC_000017.11:3656539:CC:CCC p.(Tyr173LeufsTer55) NC_000017.11:3656539:CC:CCC p.(Tyr173LeufsTer55) ERR:SPDI Analogous +NM_000545.8:c.1504C>G NP_000536.6:p.Leu502Val NC_000012.12:120999269:C:G p.(Leu502Val) NC_000012.12:120999269:C:G p.(Leu502Val) NC_000012.12:120999269:C:G Identity +NM_000335.5:c.468G>A NP_000326.2:p.Trp156Ter NC_000003.12:38622413:C:T p.(Trp156Ter) NC_000003.12:38622413:C:T p.(Trp156Ter) NC_000003.12:38622413:C:T Identity +NM_001330437.2:c.1273C>T NP_001317366.1:p.Arg425Trp NC_000012.12:112486510:C:T p.(Arg425Trp) NC_000012.12:112486510:C:T p.(Arg425Trp) NC_000012.12:112486510:C:T Identity +LRG_1077t1:c.877G>A LRG_1077p1:p.Ala293Thr NC_000003.12:98588788:C:T ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1077t1, alt_ac=LRG_1077t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1077t1 not found +NM_000833.5:c.4305G>C NP_000824.1:p.Lys1435Asn NC_000016.10:9763238:C:G p.(Lys1435Asn) NC_000016.10:9763238:C:G p.(Lys1435Asn) NC_000016.10:9763238:C:G Identity +NM_001375808.2:c.1154C>T NP_001362737.1:p.Pro385Leu NC_000018.10:2937705:G:A p.(Pro385Leu) NC_000018.10:2937705:G:A p.(Pro385Leu) NC_000018.10:2937705:G:A Identity +NM_178012.5:c.394G>A NP_821080.1:p.Gly132Ser NC_000006.12:3225694:C:T p.(Gly132Ser) NC_000006.12:3225694:C:T p.(Gly132Ser) NC_000006.12:3225694:C:T Identity +NM_001330574.2:c.1940A>G NP_001317503.1:p.Asn647Ser NC_000023.11:85271343:A:G p.(Asn647Ser) NC_000023.11:85271343:A:G p.(Asn647Ser) NC_000023.11:85271343:A:G Identity +NM_001256849.1:c.2892G>C NP_001243778.1:p.Lys964Asn NC_000019.10:50416466:G:C p.(Lys964Asn) NC_000019.10:50416466:G:C p.(Lys964Asn) NC_000019.10:50416466:G:C Identity +NM_000182.5:c.1195C>T NP_000173.2:p.Arg399Ter NC_000002.12:26204086:G:A p.(Arg399Ter) NC_000002.12:26204086:G:A p.(Arg399Ter) NC_000002.12:26204086:G:A Identity +NM_000156.6:c.317A>C NP_000147.1:p.Gln106Pro NC_000019.10:1399802:T:G p.(Gln106Pro) NC_000019.10:1399802:T:G p.(Gln106Pro) NC_000019.10:1399802:T:G Identity +NM_000206.3:c.421C>T NP_000197.1:p.Gln141Ter NC_000023.11:71110536:G:A p.(Gln141Ter) NC_000023.11:71110536:G:A p.(Gln141Ter) NC_000023.11:71110536:G:A Identity +NM_000426.4:c.61_62del NP_000417.3:p.Gln21fs NC_000006.12:128883304:ACA:A p.(Gln21GlyfsTer28) NC_000006.12:128883304:ACA:A p.(Gln21GlyfsTer28) NC_000006.12:128883305:CA: Analogous +NM_001349413.1:c.442A>G NP_001336342.1:p.Ile148Val NC_000003.12:183650797:A:G p.(Ile148Val) NC_000003.12:183650797:A:G p.(Ile148Val) NC_000003.12:183650797:A:G Identity +NM_001999.4:c.5602A>T NP_001990.2:p.Ile1868Phe NC_000005.10:128305582:T:A p.(Ile1868Phe) NC_000005.10:128305582:T:A p.(Ile1868Phe) NC_000005.10:128305582:T:A Identity +NM_001165963.4:c.4172A>G NP_001159435.1:p.Asn1391Ser NC_000002.12:166002583:T:C p.(Asn1391Ser) NC_000002.12:166002583:T:C p.(Asn1391Ser) NC_000002.12:166002583:T:C Identity +NM_000094.4:c.5932C>T NP_000085.1:p.Arg1978Ter NC_000003.12:48575672:G:A p.(Arg1978Ter) NC_000003.12:48575672:G:A p.(Arg1978Ter) NC_000003.12:48575672:G:A Identity +NM_005413.4:c.406_407del NP_005404.1:p.Ala136fs NC_000002.12:44942499:GCGCGCGCGCGC:GCGCGCGCGC p.(Ala136ArgfsTer17) NC_000002.12:44942499:GCGCGCGCGCGC:GCGCGCGCGC p.(Ala136ArgfsTer17) NC_000002.12:44942509:GC: Analogous +LRG_434t2:c.76TAC[2] LRG_434p2:p.Tyr28del NC_000009.12:105575107:TACTACTAC:TACTAC ERR:Data provider error: ValueError: Transcript LRG_434t2 not found ERR:Data provider error: ValueError: Transcript LRG_434t2 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript LRG_434t2 not found +NM_000127.3:c.1021A>G NP_000118.2:p.Arg341Gly NC_000008.11:117837142:T:C p.(Arg341Gly) NC_000008.11:117837142:T:C p.(Arg341Gly) NC_000008.11:117837142:T:C Identity +NM_001144996.2:c.1637G>A NP_001138468.1:p.Arg546His NC_000012.12:55697010:C:T p.(Arg546His) NC_000012.12:55697010:C:T p.(Arg546His) NC_000012.12:55697010:C:T Identity +NM_000814.6:c.509T>G NP_000805.1:p.Leu170Arg NC_000015.10:26583366:A:C p.(Leu170Arg) NC_000015.10:26583366:A:C p.(Leu170Arg) NC_000015.10:26583366:A:C Identity +NM_001042594.2:c.1417G>A NP_001036059.1:p.Glu473Lys NC_000007.14:124824056:C:T p.(Glu473Lys) NC_000007.14:124824056:C:T p.(Glu473Lys) NC_000007.14:124824056:C:T Identity +NM_000059.4:c.2099T>A NP_000050.3:p.Leu700Ter NC_000013.11:32336453:T:A p.(Leu700Ter) NC_000013.11:32336453:T:A p.(Leu700Ter) NC_000013.11:32336453:T:A Identity +NM_001204824.2:c.700G>A NP_001191753.1:p.Gly234Arg NC_000008.11:132172677:C:T p.(Gly234Arg) NC_000008.11:132172677:C:T p.(Gly234Arg) NC_000008.11:132172677:C:T Identity +NM_020732.3:c.4741C>T NP_065783.3:p.Gln1581Ter NC_000006.12:157201334:C:T ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_152722.5:c.893G>A NP_689935.2:p.Arg298Gln NC_000011.10:124922442:C:T p.(Arg298Gln) NC_000011.10:124922442:C:T p.(Arg298Gln) NC_000011.10:124922442:C:T Identity +NM_000546.6:c.128T>A NP_000537.3:p.Leu43Ter NC_000017.11:7676240:A:T p.(Leu43Ter) NC_000017.11:7676240:A:T p.(Leu43Ter) NC_000017.11:7676240:A:T Identity +NM_000445.5:c.4445G>A NP_000436.2:p.Arg1482His NC_000008.11:143925564:C:T p.(Arg1482His) NC_000008.11:143925564:C:T p.(Arg1482His) NC_000008.11:143925564:C:T Identity +NM_001110556.2:c.1330T>C NP_001104026.1:p.Cys444Arg NC_000023.11:154366122:A:G p.(Cys444Arg) NC_000023.11:154366122:A:G p.(Cys444Arg) NC_000023.11:154366122:A:G Identity +NM_000152.5:c.1630G>A NP_000143.2:p.Val544Met NC_000017.11:80111018:G:A p.(Val544Met) NC_000017.11:80111018:G:A p.(Val544Met) NC_000017.11:80111018:G:A Identity +NM_031407.7:c.2762C>T NP_113584.3:p.Ser921Phe NC_000023.11:53603481:G:A p.(Ser921Phe) NC_000023.11:53603481:G:A p.(Ser921Phe) NC_000023.11:53603481:G:A Identity +NM_001164507.2:c.23477A>G NP_001157979.2:p.Asn7826Ser NC_000002.12:151506987:T:C p.(Asn7826Ser) NC_000002.12:151506987:T:C p.(Asn7826Ser) NC_000002.12:151506987:T:C Identity +LRG_1122t1:c.4031C>T LRG_1122p1:p.Thr1344Met NC_000009.12:136505864:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001363813.1:c.209C>T NP_001350742.1:p.Ser70Phe NC_000017.11:65558411:G:A p.(Ser70Phe) NC_000017.11:65558411:G:A p.(Ser70Phe) NC_000017.11:65558411:G:A Identity +NM_000059.4:c.6298C>T NP_000050.3:p.Gln2100Ter NC_000013.11:32340652:C:T p.(Gln2100Ter) NC_000013.11:32340652:C:T p.(Gln2100Ter) NC_000013.11:32340652:C:T Identity +NM_001142401.3:c.194A>G NP_001135873.1:p.Asn65Ser NC_000006.12:109379643:T:C p.(Asn65Ser) NC_000006.12:109379643:T:C p.(Asn65Ser) NC_000006.12:109379643:T:C Identity +NM_001363813.1:c.1393C>A NP_001350742.1:p.Arg465Ser NC_000017.11:65537642:G:T p.(Arg465Ser) NC_000017.11:65537642:G:T p.(Arg465Ser) NC_000017.11:65537642:G:T Identity +NM_017671.5:c.1034C>T NP_060141.3:p.Ala345Val NC_000020.11:6096956:G:A p.(Ala345Val) NC_000020.11:6096956:G:A p.(Ala345Val) NC_000020.11:6096956:G:A Identity +NM_001105206.3:c.1319G>A NP_001098676.2:p.Arg440Gln NC_000006.12:112175350:C:T p.(Arg440Gln) NC_000006.12:112175350:C:T p.(Arg440Gln) NC_000006.12:112175350:C:T Identity +NM_014467.3:c.718C>T NP_055282.1:p.Arg240Cys NC_000023.11:100665593:C:T p.(Arg240Cys) NC_000023.11:100665593:C:T p.(Arg240Cys) NC_000023.11:100665593:C:T Identity +NM_001329533.2:c.619G>A NP_001316462.1:p.Val207Met NC_000019.10:1912713:G:A p.(Val207Met) NC_000019.10:1912713:G:A p.(Val207Met) NC_000019.10:1912713:G:A Identity +NM_001197104.2:c.2514del NP_001184033.1:p.Trp838fs NC_000011.10:118473671:GG:G p.(Trp838CysfsTer111) NC_000011.10:118473671:GG:G p.(Trp838CysfsTer111) NC_000011.10:118473672:G: Analogous +NM_000308.4:c.807C>G NP_000299.3:p.Asn269Lys NC_000020.11:45894678:C:G p.(Asn269Lys) NC_000020.11:45894678:C:G p.(Asn269Lys) NC_000020.11:45894678:C:G Identity +NM_003105.6:c.2401T>C NP_003096.2:p.Cys801Arg NC_000011.10:121554070:T:C p.(Cys801Arg) NC_000011.10:121554070:T:C p.(Cys801Arg) NC_000011.10:121554070:T:C Identity +NM_001291997.2:c.680T>C NP_001278926.1:p.Leu227Pro NC_000016.10:78432714:T:C p.(Leu227Pro) NC_000016.10:78432714:T:C p.(Leu227Pro) NC_000016.10:78432714:T:C Identity +NM_001003652.4:c.995T>C NP_001003652.1:p.Ile332Thr NC_000018.10:47848476:A:G p.(Ile332Thr) NC_000018.10:47848476:A:G p.(Ile332Thr) NC_000018.10:47848476:A:G Identity +NM_001353229.2:c.127G>T NP_001340158.1:p.Glu43Ter NC_000017.11:17228010:C:A p.(Glu43Ter) NC_000017.11:17228010:C:A p.(Glu43Ter) NC_000017.11:17228010:C:A Identity +NM_001207055.2:c.1268G>A NP_001193984.1:p.Arg423Gln NC_000020.11:32797262:G:A p.(Arg423Gln) NC_000020.11:32797262:G:A p.(Arg423Gln) NC_000020.11:32797262:G:A Identity +NM_001365536.1:c.4009A>C NP_001352465.1:p.Ile1337Leu NC_000002.12:166228887:T:G p.(Ile1337Leu) NC_000002.12:166228887:T:G p.(Ile1337Leu) NC_000002.12:166228887:T:G Identity +NM_000081.4:c.3311G>A NP_000072.2:p.Arg1104Gln NC_000001.11:235805824:C:T p.(Arg1104Gln) NC_000001.11:235805824:C:T p.(Arg1104Gln) NC_000001.11:235805824:C:T Identity +NM_001171653.2:c.925A>T NP_001165124.1:p.Lys309Ter NC_000002.12:144400189:T:A p.(Lys309Ter) NC_000002.12:144400189:T:A p.(Lys309Ter) NC_000002.12:144400189:T:A Identity +NM_001159508.3:c.1142G>A NP_001152980.2:p.Arg381Gln NC_000015.10:40418222:G:A p.(Arg381Gln) NC_000015.10:40418222:G:A p.(Arg381Gln) NC_000015.10:40418222:G:A Identity +NM_001195227.2:c.635G>A NP_001182156.1:p.Arg212Gln NC_000019.10:49168574:G:A p.(Arg212Gln) NC_000019.10:49168574:G:A p.(Arg212Gln) NC_000019.10:49168574:G:A Identity +NM_000218.3:c.2017G>A NP_000209.2:p.Asp673Asn NC_000011.10:2847988:G:A p.(Asp673Asn) NC_000011.10:2847988:G:A p.(Asp673Asn) NC_000011.10:2847988:G:A Identity +NM_001135040.3:c.1000G>T NP_001128512.1:p.Ala334Ser NC_000002.12:74370532:C:A p.(Ala334Ser) NC_000002.12:74370532:C:A p.(Ala334Ser) NC_000002.12:74370532:C:A Identity +NM_003373.4:c.379G>A NP_003364.1:p.Asp127Asn NC_000010.11:74070808:G:A p.(Asp127Asn) NC_000010.11:74070808:G:A p.(Asp127Asn) NC_000010.11:74070808:G:A Identity +NM_001165966.2:c.2650C>G NP_001159438.1:p.Arg884Gly NC_000017.11:6455504:G:C p.(Arg884Gly) NC_000017.11:6455504:G:C p.(Arg884Gly) NC_000017.11:6455504:G:C Identity +NM_000445.5:c.7714C>T NP_000436.2:p.Arg2572Trp NC_000008.11:143922187:G:A p.(Arg2572Trp) NC_000008.11:143922187:G:A p.(Arg2572Trp) NC_000008.11:143922187:G:A Identity +NM_001256850.1:c.5395dup NP_001243779.1:p.Ser1799fs NC_000002.12:178776468:TTTT:TTTTT p.(Ser1799LysfsTer10) NC_000002.12:178776468:TTTT:TTTTT p.(Ser1799LysfsTer10) ERR:SPDI Analogous +NM_001759.4:c.763C>A NP_001750.1:p.Leu255Ile NC_000012.12:4299901:C:A p.(Leu255Ile) NC_000012.12:4299901:C:A p.(Leu255Ile) NC_000012.12:4299901:C:A Identity +NM_000540.3:c.1561C>T NP_000531.2:p.Leu521Phe NC_000019.10:38455354:C:T p.(Leu521Phe) NC_000019.10:38455354:C:T p.(Leu521Phe) NC_000019.10:38455354:C:T Identity +NM_000702.4:c.1714G>A NP_000693.1:p.Glu572Lys NC_000001.11:160130483:G:A p.(Glu572Lys) NC_000001.11:160130483:G:A p.(Glu572Lys) NC_000001.11:160130483:G:A Identity +NM_001330540.2:c.140A>T NP_001317469.1:p.Asp47Val NC_000001.11:45508245:A:T p.(Asp47Val) NC_000001.11:45508245:A:T p.(Asp47Val) NC_000001.11:45508245:A:T Identity +NM_000533.5:c.332A>C NP_000524.3:p.Lys111Thr NC_000023.11:103786604:A:C p.(Lys111Thr) NC_000023.11:103786604:A:C p.(Lys111Thr) NC_000023.11:103786604:A:C Identity +NM_001145102.2:c.805A>G NP_001138574.1:p.Met269Val NC_000015.10:67187474:A:G p.(Met269Val) NC_000015.10:67187474:A:G p.(Met269Val) NC_000015.10:67187474:A:G Identity +NM_001371656.1:c.1293_1320del NP_001358585.1:p.Ala432fs NC_000006.12:156778958:GCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGC:GCGGCGGCGGCGGC p.(Ala432MetfsTer11) NC_000006.12:156778958:GCGGCGGCGGCGGCAGCAGCAGGAGGCGGCGGCGGCGGCGGC:GCGGCGGCGGCGGC p.(Ala432MetfsTer11) NC_000006.12:156778972:AGCAGCAGGAGGCGGCGGCGGCGGCGGC: Analogous +NM_000457.6:c.469C>T NP_000448.3:p.Gln157Ter NC_000020.11:44413776:C:T p.(Gln157Ter) NC_000020.11:44413776:C:T p.(Gln157Ter) NC_000020.11:44413776:C:T Identity +NM_000138.5:c.523C>T NP_000129.3:p.Pro175Ser NC_000015.10:48596297:G:A p.(Pro175Ser) NC_000015.10:48596297:G:A p.(Pro175Ser) NC_000015.10:48596297:G:A Identity +NM_012213.3:c.1160C>G NP_036345.2:p.Ser387Trp NC_000016.10:83915166:C:G p.(Ser387Trp) NC_000016.10:83915166:C:G p.(Ser387Trp) NC_000016.10:83915166:C:G Identity +NM_181840.1:c.58C>G NP_862823.1:p.Leu20Val NC_000010.11:117197545:C:G p.(Leu20Val) NC_000010.11:117197545:C:G p.(Leu20Val) NC_000010.11:117197545:C:G Identity +NM_000068.4:c.6019C>T NP_000059.3:p.Pro2007Ser NC_000019.10:13212679:G:A p.(Pro2007Ser) NC_000019.10:13212679:G:A p.(Pro2007Ser) NC_000019.10:13212679:G:A Identity +NM_001306079.2:c.2584A>G NP_001293008.1:p.Thr862Ala NC_000002.12:27232574:A:G p.(Thr862Ala) NC_000002.12:27232574:A:G p.(Thr862Ala) NC_000002.12:27232574:A:G Identity +NM_001008844.3:c.250C>T NP_001008844.1:p.Arg84Ter NC_000006.12:7555796:C:T p.(Arg84Ter) NC_000006.12:7555796:C:T p.(Arg84Ter) NC_000006.12:7555796:C:T Identity +NM_001297438.2:c.122T>A NP_001284367.1:p.Val41Glu NC_000012.12:6466231:A:T p.(Val41Glu) NC_000012.12:6466231:A:T p.(Val41Glu) NC_000012.12:6466231:A:T Identity +LRG_737t2:c.4678C>G LRG_737p2:p.Pro1560Ala NC_000009.12:134823448:C:G ERR:Data provider error: ValueError: Transcript LRG_737t2 not found ERR:Data provider error: ValueError: Transcript LRG_737t2 not found ERR:AlignmentMapper(tx_ac=LRG_737t2, alt_ac=LRG_737t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_737t2, alt_ac=LRG_737t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_737t2 not found +NM_001384125.1:c.648T>G NP_001371054.1:p.Asn216Lys NC_000004.12:122187914:T:G p.(Asn216Lys) NC_000004.12:122187914:T:G p.(Asn216Lys) NC_000004.12:122187914:T:G Identity +LRG_1135t2:c.1943A>G LRG_1135p2:p.Asn648Ser NC_000010.11:52293826:A:G ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found +NM_001305557.2:c.88_110del NP_001292486.1:p.Phe30fs NC_000018.10:79988282:GTAGGATCCCAGTCGTGGCCGAAG:G p.(Phe30ValfsTer8) NC_000018.10:79988282:GTAGGATCCCAGTCGTGGCCGAAG:G p.(Phe30ValfsTer8) NC_000018.10:79988282:GTAGGATCCCAGTCGTGGCCGAA: Analogous +NM_000244.4:c.552G>C NP_000235.3:p.Glu184Asp NC_000011.10:64808007:C:G p.(Glu184Asp) NC_000011.10:64808007:C:G p.(Glu184Asp) NC_000011.10:64808007:C:G Identity +NM_004369.4:c.4432G>A NP_004360.2:p.Val1478Met NC_000002.12:237369030:C:T p.(Val1478Met) NC_000002.12:237369030:C:T p.(Val1478Met) NC_000002.12:237369030:C:T Identity +NM_000068.4:c.6507dup NP_000059.3:p.Glu2170Ter NC_000019.10:13209348:A:AA p.(Glu2170Ter) NC_000019.10:13209348:A:AA p.(Glu2170Ter) ERR:SPDI Identity +NM_000702.4:c.2128G>A NP_000693.1:p.Ala710Thr NC_000001.11:160135445:G:A p.(Ala710Thr) NC_000001.11:160135445:G:A p.(Ala710Thr) NC_000001.11:160135445:G:A Identity +NM_015425.6:c.2000G>A NP_056240.2:p.Arg667His NC_000002.12:86065331:C:T p.(Arg667His) NC_000002.12:86065331:C:T p.(Arg667His) NC_000002.12:86065331:C:T Identity +NM_001171930.2:c.1853A>G NP_001165401.1:p.Tyr618Cys NC_000010.11:71679486:A:G p.(Tyr618Cys) NC_000010.11:71679486:A:G p.(Tyr618Cys) NC_000010.11:71679486:A:G Identity +NM_001367624.2:c.578C>A NP_001354553.1:p.Ser193Tyr NC_000016.10:88428047:C:A p.(Ser193Tyr) NC_000016.10:88428047:C:A p.(Ser193Tyr) NC_000016.10:88428047:C:A Identity +NM_001271.4:c.4265A>G NP_001262.3:p.Asp1422Gly NC_000015.10:93002303:A:G p.(Asp1422Gly) NC_000015.10:93002303:A:G p.(Asp1422Gly) NC_000015.10:93002303:A:G Identity +NM_000426.4:c.2054T>C NP_000417.3:p.Leu685Pro NC_000006.12:129252252:T:C p.(Leu685Pro) NC_000006.12:129252252:T:C p.(Leu685Pro) NC_000006.12:129252252:T:C Identity +NM_015384.5:c.6712del NP_056199.2:p.Gln2238fs NC_000005.10:37048622:CC:C p.(Gln2238ArgfsTer27) NC_000005.10:37048622:CC:C p.(Gln2238ArgfsTer27) NC_000005.10:37048623:C: Analogous +NM_001370404.1:c.3050_3051insAACC NP_001357333.1:p.Val1018fs NC_000016.10:2079326::AACC p.(Val1018ThrfsTer107) NC_000016.10:2079325:T:AACC p.(Val1018ThrfsTer107) NC_000016.10:2079326:TG:AACC Analogous +NM_001304815.2:c.3491A>G NP_001291744.1:p.Gln1164Arg NC_000019.10:42287725:A:G p.(Gln1164Arg) NC_000019.10:42287725:A:G p.(Gln1164Arg) NC_000019.10:42287725:A:G Identity +NM_001999.4:c.672G>A NP_001990.2:p.Met224Ile NC_000005.10:128464877:C:T p.(Met224Ile) NC_000005.10:128464877:C:T p.(Met224Ile) NC_000005.10:128464877:C:T Identity +LRG_512t1:c.5683T>C LRG_512p1:p.Cys1895Arg NC_000005.10:177280624:T:C ERR:Data provider error: ValueError: Transcript LRG_512t1 not found ERR:Data provider error: ValueError: Transcript LRG_512t1 not found ERR:AlignmentMapper(tx_ac=LRG_512t1, alt_ac=LRG_512t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_512t1, alt_ac=LRG_512t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_512t1 not found +NM_000069.3:c.1256G>A NP_000060.2:p.Arg419His NC_000001.11:201083298:C:T p.(Arg419His) NC_000001.11:201083298:C:T p.(Arg419His) NC_000001.11:201083298:C:T Identity +NM_001128227.3:c.1535G>A NP_001121699.1:p.Arg512Gln NC_000009.12:36222967:C:T p.(Arg512Gln) NC_000009.12:36222967:C:T p.(Arg512Gln) NC_000009.12:36222967:C:T Identity +NM_005765.3:c.449C>T NP_005756.2:p.Thr150Ile NC_000023.11:40597578:C:T p.(Thr150Ile) NC_000023.11:40597578:C:T p.(Thr150Ile) NC_000023.11:40597578:C:T Identity +NM_001126131.2:c.830A>C NP_001119603.1:p.His277Pro NC_000015.10:89330105:T:G p.(His277Pro) NC_000015.10:89330105:T:G p.(His277Pro) NC_000015.10:89330105:T:G Identity +NM_001166136.2:c.1418A>G NP_001159608.1:p.Glu473Gly NC_000004.12:5631844:T:C p.(Glu473Gly) NC_000004.12:5631844:T:C p.(Glu473Gly) NC_000004.12:5631844:T:C Identity +NM_001242466.2:c.596G>A NP_001229395.1:p.Arg199His NC_000005.10:68295263:G:A p.(Arg199His) NC_000005.10:68295263:G:A p.(Arg199His) NC_000005.10:68295263:G:A Identity +NM_001145102.2:c.896T>C NP_001138574.1:p.Leu299Ser NC_000015.10:67190468:T:C p.(Leu299Ser) NC_000015.10:67190468:T:C p.(Leu299Ser) NC_000015.10:67190468:T:C Identity +NM_032861.4:c.1102C>T NP_116250.3:p.Arg368Ter NC_000006.12:158120488:G:A p.(Arg368Ter) NC_000006.12:158120488:G:A p.(Arg368Ter) NC_000006.12:158120488:G:A Identity +NM_014141.6:c.3010G>A NP_054860.1:p.Asp1004Asn NC_000007.14:148172477:G:A p.(Asp1004Asn) NC_000007.14:148172477:G:A p.(Asp1004Asn) NC_000007.14:148172477:G:A Identity +NM_016120.4:c.1865G>A NP_057204.2:p.Ser622Asn NC_000023.11:74591449:C:T p.(Ser622Asn) NC_000023.11:74591449:C:T p.(Ser622Asn) NC_000023.11:74591449:C:T Identity +NM_001289910.1:c.1000G>C NP_001276839.1:p.Asp334His NC_000015.10:90085022:C:G p.(Asp334His) NC_000015.10:90085022:C:G p.(Asp334His) NC_000015.10:90085022:C:G Identity +NM_001110219.3:c.466T>G NP_001103689.1:p.Phe156Val NC_000013.11:20223014:A:C p.(Phe156Val) NC_000013.11:20223014:A:C p.(Phe156Val) NC_000013.11:20223014:A:C Identity +NM_001320210.2:c.676dup NP_001307139.1:p.Tyr226fs NC_000003.12:132675274:TTTTT:TTTTTT p.(Tyr226LeufsTer23) NC_000003.12:132675274:TTTTT:TTTTTT p.(Tyr226LeufsTer23) ERR:SPDI Analogous +NM_001365536.1:c.847A>T NP_001352465.1:p.Asn283Tyr NC_000002.12:166303143:T:A p.(Asn283Tyr) NC_000002.12:166303143:T:A p.(Asn283Tyr) NC_000002.12:166303143:T:A Identity +NM_001031804.3:c.208dup NP_001026974.1:p.Ser70fs NC_000016.10:79599694:AA:AAA p.(Ser70PhefsTer313) NC_000016.10:79599694:AA:AAA p.(Ser70PhefsTer313) ERR:SPDI Analogous +NM_001174063.2:c.1833T>G NP_001167534.1:p.Tyr611Ter NC_000008.11:38415884:A:C p.(Tyr611Ter) NC_000008.11:38415884:A:C p.(Tyr611Ter) NC_000008.11:38415884:A:C Identity +NM_001042472.3:c.527G>A NP_001035937.1:p.Gly176Glu NC_000020.11:25320213:C:T p.(Gly176Glu) NC_000020.11:25320213:C:T p.(Gly176Glu) NC_000020.11:25320213:C:T Identity +NM_000531.6:c.494A>G NP_000522.3:p.Asp165Gly NC_000023.11:38401381:A:G p.(Asp165Gly) NC_000023.11:38401381:A:G p.(Asp165Gly) NC_000023.11:38401381:A:G Identity +LRG_778t1:c.3082G>A LRG_778p1:p.Asp1028Asn NC_000015.10:48489850:C:T ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_001190709.2:c.146A>G NP_001177638.1:p.Asn49Ser NC_000001.11:103082932:T:C p.(Asn49Ser) NC_000001.11:103082932:T:C p.(Asn49Ser) NC_000001.11:103082932:T:C Identity +LRG_670t1:c.164_165del LRG_670p1:p.Lys55fs NC_000012.12:114401902:TTT:T ERR:Data provider error: ValueError: Transcript LRG_670t1 not found ERR:Data provider error: ValueError: Transcript LRG_670t1 not found ERR:AlignmentMapper(tx_ac=LRG_670t1, alt_ac=LRG_670t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_670t1, alt_ac=LRG_670t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_670t1 not found +NM_014714.4:c.2914G>A NP_055529.2:p.Asp972Asn NC_000016.10:1524866:C:T p.(Asp972Asn) NC_000016.10:1524866:C:T p.(Asp972Asn) NC_000016.10:1524866:C:T Identity +NM_000138.5:c.7931_7934dup NP_000129.3:p.Cys2646fs NC_000015.10:48415652:CCTCC:CCTCCCTCC p.(Cys2646ArgfsTer7) NC_000015.10:48415652:CCTCC:CCTCCCTCC p.(Cys2646ArgfsTer7) ERR:SPDI Analogous +NM_001127493.3:c.1666G>A NP_001120965.1:p.Asp556Asn NC_000004.12:113277881:G:A p.(Asp556Asn) NC_000004.12:113277881:G:A p.(Asp556Asn) NC_000004.12:113277881:G:A Identity +NM_001377289.1:c.647T>C NP_001364218.1:p.Val216Ala NC_000006.12:70263262:A:G p.(Val216Ala) NC_000006.12:70263262:A:G p.(Val216Ala) NC_000006.12:70263262:A:G Identity +NM_000548.5:c.1112A>G NP_000539.2:p.Gln371Arg NC_000016.10:2060805:A:G p.(Gln371Arg) NC_000016.10:2060805:A:G p.(Gln371Arg) NC_000016.10:2060805:A:G Identity +NM_020745.4:c.115dup NP_065796.2:p.Ala39fs NC_000006.12:44313208:CC:CCC p.(Ala39GlyfsTer78) NC_000006.12:44313208:CC:CCC p.(Ala39GlyfsTer78) ERR:SPDI Analogous +NM_000493.4:c.19T>C NP_000484.2:p.Phe7Leu NC_000006.12:116125473:A:G p.(Phe7Leu) NC_000006.12:116125473:A:G p.(Phe7Leu) NC_000006.12:116125473:A:G Identity +NM_001039802.2:c.346C>G NP_001034891.1:p.Gln116Glu NC_000001.11:22086725:C:G p.(Gln116Glu) NC_000001.11:22086725:C:G p.(Gln116Glu) NC_000001.11:22086725:C:G Identity +NM_001128166.3:c.1159G>A NP_001121638.1:p.Asp387Asn NC_000023.11:111195889:G:A p.(Asp387Asn) NC_000023.11:111195889:G:A p.(Asp387Asn) NC_000023.11:111195889:G:A Identity +NM_001079872.2:c.494T>C NP_001073341.1:p.Val165Ala NC_000023.11:120560144:A:G p.(Val165Ala) NC_000023.11:120560144:A:G p.(Val165Ala) NC_000023.11:120560144:A:G Identity +NM_198525.3:c.235C>T NP_940927.2:p.Leu79Phe NC_000015.10:89652695:G:A p.(Leu79Phe) NC_000015.10:89652695:G:A p.(Leu79Phe) NC_000015.10:89652695:G:A Identity +NM_001321309.2:c.1870G>T NP_001308238.1:p.Val624Phe NC_000003.12:123701501:C:A p.(Val624Phe) NC_000003.12:123701501:C:A p.(Val624Phe) NC_000003.12:123701501:C:A Identity +NM_000138.5:c.7507del NP_000129.3:p.Thr2503fs NC_000015.10:48422014:T: p.(Thr2503ProfsTer179) NC_000015.10:48422014:T: p.(Thr2503ProfsTer179) NC_000015.10:48422014:T: Analogous +NM_006073.4:c.2093A>G NP_006064.2:p.Asn698Ser NC_000006.12:123218697:T:C p.(Asn698Ser) NC_000006.12:123218697:T:C p.(Asn698Ser) NC_000006.12:123218697:T:C Identity +NM_001085411.3:c.1A>G NP_001078880.1:p.Met1Val NC_000005.10:36241797:T:C p.(Met1Val) NC_000005.10:36241797:T:C p.Met1? NC_000005.10:36241797:T:C Identity +NM_006267.5:c.1172C>G NP_006258.3:p.Ser391Cys NC_000002.12:108749027:C:G p.(Ser391Cys) NC_000002.12:108749027:C:G p.(Ser391Cys) NC_000002.12:108749027:C:G Identity +NM_001127493.3:c.4559A>G NP_001120965.1:p.His1520Arg NC_000004.12:113363421:A:G p.(His1520Arg) NC_000004.12:113363421:A:G p.(His1520Arg) NC_000004.12:113363421:A:G Identity +NM_014141.6:c.3039G>A NP_054860.1:p.Met1013Ile NC_000007.14:148217315:G:A p.(Met1013Ile) NC_000007.14:148217315:G:A p.(Met1013Ile) NC_000007.14:148217315:G:A Identity +NM_000264.5:c.1262C>T NP_000255.2:p.Ser421Phe NC_000009.12:95478139:G:A p.(Ser421Phe) NC_000009.12:95478139:G:A p.(Ser421Phe) NC_000009.12:95478139:G:A Identity +NM_000264.5:c.876G>A NP_000255.2:p.Met292Ile NC_000009.12:95480458:C:T p.(Met292Ile) NC_000009.12:95480458:C:T p.(Met292Ile) NC_000009.12:95480458:C:T Identity +NM_000264.5:c.926C>T NP_000255.2:p.Pro309Leu NC_000009.12:95480408:G:A p.(Pro309Leu) NC_000009.12:95480408:G:A p.(Pro309Leu) NC_000009.12:95480408:G:A Identity +NM_000051.4:c.2170G>A NP_000042.3:p.Gly724Ser NC_000011.10:108256259:G:A p.(Gly724Ser) NC_000011.10:108256259:G:A p.(Gly724Ser) NC_000011.10:108256259:G:A Identity +NM_000051.4:c.3257G>T NP_000042.3:p.Arg1086Leu NC_000011.10:108272824:G:T p.(Arg1086Leu) NC_000011.10:108272824:G:T p.(Arg1086Leu) NC_000011.10:108272824:G:T Identity +NM_000245.4:c.2987T>C NP_000236.2:p.Val996Ala NC_000007.14:116771947:T:C p.(Val996Ala) NC_000007.14:116771947:T:C p.(Val996Ala) NC_000007.14:116771947:T:C Identity +NM_001293306.2:c.2593A>G NP_001280235.2:p.Ile865Val NC_000003.12:38728588:T:C p.(Ile865Val) NC_000003.12:38728588:T:C p.(Ile865Val) NC_000003.12:38728588:T:C Identity +NM_000051.4:c.2104C>G NP_000042.3:p.Leu702Val NC_000011.10:108254018:C:G p.(Leu702Val) NC_000011.10:108254018:C:G p.(Leu702Val) NC_000011.10:108254018:C:G Identity +NM_000051.4:c.733G>A NP_000042.3:p.Val245Ile NC_000011.10:108244857:G:A p.(Val245Ile) NC_000011.10:108244857:G:A p.(Val245Ile) NC_000011.10:108244857:G:A Identity +NM_000264.5:c.149T>C NP_000255.2:p.Leu50Pro NC_000009.12:95508212:A:G p.(Leu50Pro) NC_000009.12:95508212:A:G p.(Leu50Pro) NC_000009.12:95508212:A:G Identity +NM_000264.5:c.1324G>A NP_000255.2:p.Val442Met NC_000009.12:95478077:C:T p.(Val442Met) NC_000009.12:95478077:C:T p.(Val442Met) NC_000009.12:95478077:C:T Identity +NM_000264.5:c.1837T>C NP_000255.2:p.Cys613Arg NC_000009.12:95469822:A:G p.(Cys613Arg) NC_000009.12:95469822:A:G p.(Cys613Arg) NC_000009.12:95469822:A:G Identity +NM_001206927.2:c.11430_11432del NP_001193856.1:p.Arg3812del NC_000006.12:38931965:AAG: p.(Arg3812del) NC_000006.12:38931965:AAG: p.(Arg3812del) NC_000006.12:38931965:AAG: Identity +NM_000051.4:c.2700dup NP_000042.3:p.Leu901fs NC_000011.10:108268470:G:GG p.(Leu901AlafsTer19) NC_000011.10:108268470:G:GG p.(Leu901AlafsTer19) ERR:SPDI Analogous +NM_000245.4:c.2929A>G NP_000236.2:p.Thr977Ala NC_000007.14:116771889:A:G p.(Thr977Ala) NC_000007.14:116771889:A:G p.(Thr977Ala) NC_000007.14:116771889:A:G Identity +NM_001166292.2:c.19C>G NP_001159764.1:p.Leu7Val NC_000001.11:44842913:G:C p.(Leu7Val) NC_000001.11:44842913:G:C p.(Leu7Val) NC_000001.11:44842913:G:C Identity +NM_001409301.1:c.241A>G NP_001396230.1:p.Met81Val NC_000005.10:177135343:A:G p.(Met81Val) NC_000005.10:177135343:A:G p.(Met81Val) NC_000005.10:177135343:A:G Identity +NM_001178133.2:c.880G>A NP_001171604.1:p.Gly294Ser NC_000010.11:102597262:G:A p.(Gly294Ser) NC_000010.11:102597262:G:A p.(Gly294Ser) NC_000010.11:102597262:G:A Identity +NM_000057.4:c.4223C>G NP_000048.1:p.Pro1408Arg NC_000015.10:90815247:C:G p.(Pro1408Arg) NC_000015.10:90815247:C:G p.(Pro1408Arg) NC_000015.10:90815247:C:G Identity +NM_000245.4:c.2471A>G NP_000236.2:p.Asp824Gly NC_000007.14:116763155:A:G p.(Asp824Gly) NC_000007.14:116763155:A:G p.(Asp824Gly) NC_000007.14:116763155:A:G Identity +NM_001243342.2:c.1030C>G NP_001230271.1:p.Leu344Val NC_000017.11:80050153:C:G p.(Leu344Val) NC_000017.11:80050153:C:G p.(Leu344Val) NC_000017.11:80050153:C:G Identity +NM_017950.4:c.3142G>A NP_060420.2:p.Glu1048Lys NC_000017.11:80097364:G:A p.(Glu1048Lys) NC_000017.11:80097364:G:A p.(Glu1048Lys) NC_000017.11:80097364:G:A Identity +NM_001083908.2:c.696_702del NP_001077377.1:p.Ala233fs NC_000014.9:49634447:GGGGGCTG:G p.(Ala233GlyfsTer50) NC_000014.9:49634447:GGGGGCTG:G p.(Ala233GlyfsTer50) NC_000014.9:49634447:GGGGGCT: Analogous +NM_000179.3:c.236C>T NP_000170.1:p.Ser79Leu NC_000002.12:47783468:C:T p.(Ser79Leu) NC_000002.12:47783468:C:T p.(Ser79Leu) NC_000002.12:47783468:C:T Identity +NM_001277115.2:c.11804C>T NP_001264044.1:p.Pro3935Leu NC_000007.14:21867971:C:T p.(Pro3935Leu) NC_000007.14:21867971:C:T p.(Pro3935Leu) NC_000007.14:21867971:C:T Identity +NM_001173484.2:c.412G>A NP_001166955.1:p.Val138Met NC_000010.11:20812885:C:T p.(Val138Met) NC_000010.11:20812885:C:T p.(Val138Met) NC_000010.11:20812885:C:T Identity +NM_020433.5:c.1306C>T NP_065166.2:p.Arg436Cys NC_000020.11:44116368:G:A p.(Arg436Cys) NC_000020.11:44116368:G:A p.(Arg436Cys) NC_000020.11:44116368:G:A Identity +NM_000057.4:c.2696G>A NP_000048.1:p.Arg899Gln NC_000015.10:90784953:G:A p.(Arg899Gln) NC_000015.10:90784953:G:A p.(Arg899Gln) NC_000015.10:90784953:G:A Identity +NM_000057.4:c.4019C>T NP_000048.1:p.Pro1340Leu NC_000015.10:90811348:C:T p.(Pro1340Leu) NC_000015.10:90811348:C:T p.(Pro1340Leu) NC_000015.10:90811348:C:T Identity +NM_000245.4:c.2745T>G NP_000236.2:p.Ile915Met NC_000007.14:116771511:T:G p.(Ile915Met) NC_000007.14:116771511:T:G p.(Ile915Met) NC_000007.14:116771511:T:G Identity +LRG_386t1:c.1468G>C LRG_386p1:p.Gly490Arg NC_000011.10:47342733:C:G ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_017802.4:c.289G>A NP_060272.3:p.Val97Met NC_000007.14:727008:G:A p.(Val97Met) NC_000007.14:727008:G:A p.(Val97Met) NC_000007.14:727008:G:A Identity +LRG_1334t2:c.1271T>C LRG_1334p2:p.Met424Thr NC_000004.12:2830092:T:C ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found ERR:AlignmentMapper(tx_ac=LRG_1334t2, alt_ac=LRG_1334t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1334t2, alt_ac=LRG_1334t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1334t2 not found +NM_001369.3:c.10021C>G NP_001360.1:p.Leu3341Val NC_000005.10:13766055:G:C p.(Leu3341Val) NC_000005.10:13766055:G:C p.(Leu3341Val) NC_000005.10:13766055:G:C Identity +NM_000251.3:c.2532dup NP_000242.1:p.Lys845Ter NC_000002.12:47480768:T:TT p.(Lys845Ter) NC_000002.12:47480768:T:TT p.(Lys845Ter) ERR:SPDI Identity +NM_000535.7:c.1423G>T NP_000526.2:p.Val475Leu NC_000007.14:5987341:C:A p.(Val475Leu) NC_000007.14:5987341:C:A p.(Val475Leu) NC_000007.14:5987341:C:A Identity +NM_000535.7:c.218G>A NP_000526.2:p.Cys73Tyr NC_000007.14:6004003:C:T p.(Cys73Tyr) NC_000007.14:6004003:C:T p.(Cys73Tyr) NC_000007.14:6004003:C:T Identity +NM_000535.7:c.415C>T NP_000526.2:p.His139Tyr NC_000007.14:6002574:G:A p.(His139Tyr) NC_000007.14:6002574:G:A p.(His139Tyr) NC_000007.14:6002574:G:A Identity +NM_001206927.2:c.6137A>G NP_001193856.1:p.Tyr2046Cys NC_000006.12:38862284:A:G p.(Tyr2046Cys) NC_000006.12:38862284:A:G p.(Tyr2046Cys) NC_000006.12:38862284:A:G Identity +NM_001277115.2:c.7225G>A NP_001264044.1:p.Ala2409Thr NC_000007.14:21720814:G:A p.(Ala2409Thr) NC_000007.14:21720814:G:A p.(Ala2409Thr) NC_000007.14:21720814:G:A Identity +NM_001369.3:c.1638C>A NP_001360.1:p.Asp546Glu NC_000005.10:13911391:G:T p.(Asp546Glu) NC_000005.10:13911391:G:T p.(Asp546Glu) NC_000005.10:13911391:G:T Identity +NM_001369.3:c.3517A>C NP_001360.1:p.Ile1173Leu NC_000005.10:13871644:T:G p.(Ile1173Leu) NC_000005.10:13871644:T:G p.(Ile1173Leu) NC_000005.10:13871644:T:G Identity +NM_001193341.2:c.812C>T NP_001180270.1:p.Pro271Leu NC_000006.12:43670877:C:T p.(Pro271Leu) NC_000006.12:43670877:C:T p.(Pro271Leu) NC_000006.12:43670877:C:T Identity +NM_000179.3:c.3841G>A NP_000170.1:p.Glu1281Lys NC_000002.12:47806490:G:A p.(Glu1281Lys) NC_000002.12:47806490:G:A p.(Glu1281Lys) NC_000002.12:47806490:G:A Identity +NM_001308379.2:c.1237_1238insA NP_001295308.1:p.Cys413Ter NC_000003.12:50341480::T p.(Cys413Ter) NC_000003.12:50341479:C:T p.(Cys413Ter) NC_000003.12:50341480:CA:T Identity +NM_000179.3:c.1847C>T NP_000170.1:p.Ser616Phe NC_000002.12:47799829:C:T p.(Ser616Phe) NC_000002.12:47799829:C:T p.(Ser616Phe) NC_000002.12:47799829:C:T Identity +NM_000179.3:c.316T>C NP_000170.1:p.Trp106Arg NC_000002.12:47790981:T:C p.(Trp106Arg) NC_000002.12:47790981:T:C p.(Trp106Arg) NC_000002.12:47790981:T:C Identity +NM_000249.4:c.1261delinsTAT NP_000240.1:p.Ser421fs NC_000003.12:37025858:A:TAT p.(Ser421TyrfsTer71) NC_000003.12:37025858:A:TAT p.(Ser421TyrfsTer71) NC_000003.12:37025858:A:TAT Analogous +NM_000249.4:c.979C>T NP_000240.1:p.Gln327Ter NC_000003.12:37020403:C:T p.(Gln327Ter) NC_000003.12:37020403:C:T p.(Gln327Ter) NC_000003.12:37020403:C:T Identity +NM_000251.3:c.784G>C NP_000242.1:p.Glu262Gln NC_000002.12:47412551:G:C p.(Glu262Gln) NC_000002.12:47412551:G:C p.(Glu262Gln) NC_000002.12:47412551:G:C Identity +NM_000251.3:c.1520del NP_000242.1:p.Pro507fs NC_000002.12:47466664:CCC:CC p.(Pro507LeufsTer19) NC_000002.12:47466664:CCC:CC p.(Pro507LeufsTer19) NC_000002.12:47466666:C: Analogous +NM_000251.3:c.2563C>G NP_000242.1:p.Gln855Glu NC_000002.12:47480799:C:G p.(Gln855Glu) NC_000002.12:47480799:C:G p.(Gln855Glu) NC_000002.12:47480799:C:G Identity +NM_000179.3:c.2741C>T NP_000170.1:p.Thr914Ile NC_000002.12:47800723:C:T p.(Thr914Ile) NC_000002.12:47800723:C:T p.(Thr914Ile) NC_000002.12:47800723:C:T Identity +NM_000251.3:c.1405C>G NP_000242.1:p.Leu469Val NC_000002.12:47463048:C:G p.(Leu469Val) NC_000002.12:47463048:C:G p.(Leu469Val) NC_000002.12:47463048:C:G Identity +NM_000251.3:c.2376T>A NP_000242.1:p.Asn792Lys NC_000002.12:47478436:T:A p.(Asn792Lys) NC_000002.12:47478436:T:A p.(Asn792Lys) NC_000002.12:47478436:T:A Identity +NM_000535.7:c.2281G>A NP_000526.2:p.Val761Ile NC_000007.14:5977751:C:T p.(Val761Ile) NC_000007.14:5977751:C:T p.(Val761Ile) NC_000007.14:5977751:C:T Identity +NM_000535.7:c.1508C>T NP_000526.2:p.Ser503Phe NC_000007.14:5987256:G:A p.(Ser503Phe) NC_000007.14:5987256:G:A p.(Ser503Phe) NC_000007.14:5987256:G:A Identity +NM_000535.7:c.1531A>T NP_000526.2:p.Thr511Ser NC_000007.14:5987233:T:A p.(Thr511Ser) NC_000007.14:5987233:T:A p.(Thr511Ser) NC_000007.14:5987233:T:A Identity +NM_000535.7:c.480G>T NP_000526.2:p.Gln160His NC_000007.14:6002509:C:A p.(Gln160His) NC_000007.14:6002509:C:A p.(Gln160His) NC_000007.14:6002509:C:A Identity +NM_000109.4:c.8651del NP_000100.3:p.Pro2884fs NC_000023.11:31478367:GG:G p.(Pro2884LeufsTer27) NC_000023.11:31478367:GG:G p.(Pro2884LeufsTer27) NC_000023.11:31478367:G: Analogous +NM_000088.4:c.3688G>A NP_000079.2:p.Glu1230Lys NC_000017.11:50186765:C:T p.(Glu1230Lys) NC_000017.11:50186765:C:T p.(Glu1230Lys) NC_000017.11:50186765:C:T Identity +NM_001113378.2:c.290C>T NP_001106849.1:p.Ala97Val NC_000015.10:89261585:C:T p.(Ala97Val) NC_000015.10:89261585:C:T p.(Ala97Val) NC_000015.10:89261585:C:T Identity +NM_004204.5:c.1546C>A NP_004195.2:p.Arg516Ser NC_000016.10:582261:C:A p.(Arg516Ser) NC_000016.10:582261:C:A p.(Arg516Ser) NC_000016.10:582261:C:A Identity +NM_001113378.2:c.3947G>A NP_001106849.1:p.Gly1316Glu NC_000015.10:89316418:G:A p.(Gly1316Glu) NC_000015.10:89316418:G:A p.(Gly1316Glu) NC_000015.10:89316418:G:A Identity +NM_000138.5:c.3145G>A NP_000129.3:p.Gly1049Ser NC_000015.10:48488430:C:T p.(Gly1049Ser) NC_000015.10:48488430:C:T p.(Gly1049Ser) NC_000015.10:48488430:C:T Identity +NM_032444.4:c.3095C>T NP_115820.2:p.Pro1032Leu NC_000016.10:3590542:G:A p.(Pro1032Leu) NC_000016.10:3590542:G:A p.(Pro1032Leu) NC_000016.10:3590542:G:A Identity +NM_032444.4:c.3245A>G NP_115820.2:p.Gln1082Arg NC_000016.10:3590392:T:C p.(Gln1082Arg) NC_000016.10:3590392:T:C p.(Gln1082Arg) NC_000016.10:3590392:T:C Identity +NM_000527.5:c.1811delinsCT NP_000518.1:p.Arg604fs NC_000019.10:11116963:G:CT p.(Arg604SerfsTer12) NC_000019.10:11116963:GG:GCT p.(Arg604ThrfsTer12) NC_000019.10:11116963:G:CT Analogous +NM_001018115.3:c.1675A>G NP_001018125.1:p.Ile559Val NC_000003.12:10060311:A:G p.(Ile559Val) NC_000003.12:10060311:A:G p.(Ile559Val) NC_000003.12:10060311:A:G Identity +NM_000152.5:c.2456G>A NP_000143.2:p.Arg819Gln NC_000017.11:80117723:G:A p.(Arg819Gln) NC_000017.11:80117723:G:A p.(Arg819Gln) NC_000017.11:80117723:G:A Identity +NM_000028.3:c.2657C>T NP_000019.2:p.Pro886Leu NC_000001.11:99884678:C:T p.(Pro886Leu) NC_000001.11:99884678:C:T p.(Pro886Leu) NC_000001.11:99884678:C:T Identity +NM_000551.4:c.269A>C NP_000542.1:p.Asn90Thr NC_000003.12:10142115:A:C p.(Asn90Thr) NC_000003.12:10142115:A:C p.(Asn90Thr) NC_000003.12:10142115:A:C Identity +NM_032444.4:c.85C>T NP_115820.2:p.Arg29Cys NC_000016.10:3608879:G:A p.(Arg29Cys) NC_000016.10:3608879:G:A p.(Arg29Cys) NC_000016.10:3608879:G:A Identity +NM_002506.3:c.170C>T NP_002497.2:p.Ala57Val NC_000001.11:115286625:G:A p.(Ala57Val) NC_000001.11:115286625:G:A p.(Ala57Val) NC_000001.11:115286625:G:A Identity +NM_000088.4:c.3893C>A NP_000079.2:p.Thr1298Asn NC_000017.11:50186428:G:T p.(Thr1298Asn) NC_000017.11:50186428:G:T p.(Thr1298Asn) NC_000017.11:50186428:G:T Identity +NM_000719.7:c.3398G>A NP_000710.5:p.Gly1133Asp NC_000012.12:2608551:G:A p.(Gly1133Asp) NC_000012.12:2608551:G:A p.(Gly1133Asp) NC_000012.12:2608551:G:A Identity +NM_000321.3:c.269G>T NP_000312.2:p.Gly90Val NC_000013.11:48342602:G:T p.(Gly90Val) NC_000013.11:48342602:G:T p.(Gly90Val) NC_000013.11:48342602:G:T Identity +NM_000088.4:c.1012G>A NP_000079.2:p.Gly338Ser NC_000017.11:50195966:C:T p.(Gly338Ser) NC_000017.11:50195966:C:T p.(Gly338Ser) NC_000017.11:50195966:C:T Identity +NM_000088.4:c.3647A>G NP_000079.2:p.Tyr1216Cys NC_000017.11:50186806:T:C p.(Tyr1216Cys) NC_000017.11:50186806:T:C p.(Tyr1216Cys) NC_000017.11:50186806:T:C Identity +NM_000719.7:c.3235G>A NP_000710.5:p.Gly1079Arg NC_000012.12:2607008:G:A p.(Gly1079Arg) NC_000012.12:2607008:G:A p.(Gly1079Arg) NC_000012.12:2607008:G:A Identity +NM_001148.6:c.8182G>A NP_001139.3:p.Glu2728Lys NC_000004.12:113356799:G:A p.(Glu2728Lys) NC_000004.12:113356799:G:A p.(Glu2728Lys) NC_000004.12:113356799:G:A Identity +NM_005751.5:c.4274A>C NP_005742.4:p.Glu1425Ala NC_000007.14:92031539:A:C p.(Glu1425Ala) NC_000007.14:92031539:A:C p.(Glu1425Ala) NC_000007.14:92031539:A:C Identity +NM_000138.5:c.5755G>A NP_000129.3:p.Gly1919Ser NC_000015.10:48446738:C:T p.(Gly1919Ser) NC_000015.10:48446738:C:T p.(Gly1919Ser) NC_000015.10:48446738:C:T Identity +NM_000138.5:c.7999G>T NP_000129.3:p.Glu2667Ter NC_000015.10:48415587:C:A p.(Glu2667Ter) NC_000015.10:48415587:C:A p.(Glu2667Ter) NC_000015.10:48415587:C:A Identity +NM_000118.4:c.1122_1123AG[1] NP_000109.1:p.Glu375Alafs NC_000009.12:127824312:CTCT:CT p.(Glu375AlafsTer20) NC_000009.12:127824314:CT:CT ERR:Parse ERR:Parse Analogous +NM_001148.6:c.5773C>T NP_001139.3:p.His1925Tyr NC_000004.12:113354390:C:T p.(His1925Tyr) NC_000004.12:113354390:C:T p.(His1925Tyr) NC_000004.12:113354390:C:T Identity +NM_000222.3:c.1080A>C NP_000213.1:p.Glu360Asp NC_000004.12:54707251:A:C p.(Glu360Asp) NC_000004.12:54707251:A:C p.(Glu360Asp) NC_000004.12:54707251:A:C Identity +NM_005732.4:c.3242A>G NP_005723.2:p.Tyr1081Cys NC_000005.10:132618146:A:G p.(Tyr1081Cys) NC_000005.10:132618146:A:G p.(Tyr1081Cys) NC_000005.10:132618146:A:G Identity +NM_003000.3:c.527A>G NP_002991.2:p.Glu176Gly NC_000001.11:17027761:T:C p.(Glu176Gly) NC_000001.11:17027761:T:C p.(Glu176Gly) NC_000001.11:17027761:T:C Identity +NM_001039885.3:c.397G>T NP_001034974.1:p.Ala133Ser NC_000019.10:46755846:G:T p.(Ala133Ser) NC_000019.10:46755846:G:T p.(Ala133Ser) NC_000019.10:46755846:G:T Identity +NM_005732.4:c.2004G>C NP_005723.2:p.Gln668His NC_000005.10:132595606:G:C p.(Gln668His) NC_000005.10:132595606:G:C p.(Gln668His) NC_000005.10:132595606:G:C Identity +NM_000321.3:c.2712G>T NP_000312.2:p.Met904Ile NC_000013.11:48477402:G:T p.(Met904Ile) NC_000013.11:48477402:G:T p.(Met904Ile) NC_000013.11:48477402:G:T Identity +NM_004260.4:c.1886G>C NP_004251.4:p.Arg629Pro NC_000008.11:144514099:C:G p.(Arg629Pro) NC_000008.11:144514099:C:G p.(Arg629Pro) NC_000008.11:144514099:C:G Identity +NM_004260.4:c.544C>T NP_004251.4:p.Arg182Trp NC_000008.11:144516574:G:A p.(Arg182Trp) NC_000008.11:144516574:G:A p.(Arg182Trp) NC_000008.11:144516574:G:A Identity +NM_017780.4:c.5428C>T NP_060250.2:p.Arg1810Ter NC_000008.11:60850515:C:T p.(Arg1810Ter) NC_000008.11:60850515:C:T p.(Arg1810Ter) NC_000008.11:60850515:C:T Identity +NM_017780.4:c.7199G>A NP_060250.2:p.Arg2400Gln NC_000008.11:60856478:G:A p.(Arg2400Gln) NC_000008.11:60856478:G:A p.(Arg2400Gln) NC_000008.11:60856478:G:A Identity +NM_005732.4:c.3618G>T NP_005723.2:p.Lys1206Asn NC_000005.10:132638222:G:T p.(Lys1206Asn) NC_000005.10:132638222:G:T p.(Lys1206Asn) NC_000005.10:132638222:G:T Identity +NM_000391.4:c.1328A>G NP_000382.3:p.Asn443Ser NC_000011.10:6615267:T:C p.(Asn443Ser) NC_000011.10:6615267:T:C p.(Asn443Ser) NC_000011.10:6615267:T:C Identity +NM_017882.3:c.271G>A NP_060352.1:p.Val91Ile NC_000015.10:68214315:C:T p.(Val91Ile) NC_000015.10:68214315:C:T p.(Val91Ile) NC_000015.10:68214315:C:T Identity +NM_000321.3:c.1174G>A NP_000312.2:p.Ala392Thr NC_000013.11:48373450:G:A p.(Ala392Thr) NC_000013.11:48373450:G:A p.(Ala392Thr) NC_000013.11:48373450:G:A Identity +NM_001142333.2:c.952G>C NP_001135805.1:p.Ala318Pro NC_000016.10:7709092:G:C p.(Ala318Pro) NC_000016.10:7709092:G:C p.(Ala318Pro) NC_000016.10:7709092:G:C Identity +NM_001276468.2:c.589C>T NP_001263397.1:p.Arg197Cys NC_000012.12:57629104:G:A p.(Arg197Cys) NC_000012.12:57629104:G:A p.(Arg197Cys) NC_000012.12:57629104:G:A Identity +NM_001278055.2:c.7540A>G NP_001264984.1:p.Ile2514Val NC_000013.11:23335894:T:C p.(Ile2514Val) NC_000013.11:23335894:T:C p.(Ile2514Val) NC_000013.11:23335894:T:C Identity +NM_000553.6:c.3703A>G NP_000544.2:p.Ser1235Gly NC_000008.11:31154638:A:G p.(Ser1235Gly) NC_000008.11:31154638:A:G p.(Ser1235Gly) NC_000008.11:31154638:A:G Identity +NM_000276.4:c.860dup NP_000267.2:p.Tyr288fs NC_000023.11:129561212:TT:TTT p.(Tyr288LeufsTer3) NC_000023.11:129561212:TT:TTT p.(Tyr288LeufsTer3) ERR:SPDI Analogous +NM_001330660.2:c.491G>A NP_001317589.1:p.Arg164His NC_000009.12:35744372:C:T p.(Arg164His) NC_000009.12:35744372:C:T p.(Arg164His) NC_000009.12:35744372:C:T Identity +NM_000553.6:c.513_514delinsTC NP_000544.2:p.Thr172Pro NC_000008.11:31067040:CA:TC p.(Thr172Pro) NC_000008.11:31067040:CA:TC p.(Thr172Pro) NC_000008.11:31067040:CA:TC Identity +NM_005359.6:c.479A>G NP_005350.1:p.Asp160Gly NC_000018.10:51054804:A:G p.(Asp160Gly) NC_000018.10:51054804:A:G p.(Asp160Gly) NC_000018.10:51054804:A:G Identity +NM_000465.4:c.1318G>A NP_000456.2:p.Asp440Asn NC_000002.12:214769308:C:T p.(Asp440Asn) NC_000002.12:214769308:C:T p.(Asp440Asn) NC_000002.12:214769308:C:T Identity +NM_000321.3:c.2755A>G NP_000312.2:p.Ser919Gly NC_000013.11:48480038:A:G p.(Ser919Gly) NC_000013.11:48480038:A:G p.(Ser919Gly) NC_000013.11:48480038:A:G Identity +NM_000044.6:c.2103G>T NP_000035.2:p.Leu701Phe NC_000023.11:67711618:G:T p.(Leu701Phe) NC_000023.11:67711618:G:T p.(Leu701Phe) NC_000023.11:67711618:G:T Identity +NM_000553.6:c.2215G>A NP_000544.2:p.Val739Ile NC_000008.11:31111740:G:A p.(Val739Ile) NC_000008.11:31111740:G:A p.(Val739Ile) NC_000008.11:31111740:G:A Identity +NM_000016.6:c.1238G>A NP_000007.1:p.Arg413His NC_000001.11:75762734:G:A p.(Arg413His) NC_000001.11:75762734:G:A p.(Arg413His) NC_000001.11:75762734:G:A Identity +NM_001347827.2:c.1108A>G NP_001334756.1:p.Ile370Val NC_000004.12:54267727:A:G p.(Ile370Val) NC_000004.12:54267727:A:G p.(Ile370Val) NC_000004.12:54267727:A:G Identity +NM_002769.5:c.410C>T NP_002760.1:p.Thr137Met NC_000007.14:142751982:C:T p.(Thr137Met) NC_000007.14:142751982:C:T p.(Thr137Met) NC_000007.14:142751982:C:T Identity +NM_000033.4:c.1334C>T NP_000024.2:p.Ala445Val NC_000023.11:153736453:C:T p.(Ala445Val) NC_000023.11:153736453:C:T p.(Ala445Val) NC_000023.11:153736453:C:T Identity +NM_000222.3:c.2111A>G NP_000213.1:p.Lys704Arg NC_000004.12:54729454:A:G p.(Lys704Arg) NC_000004.12:54729454:A:G p.(Lys704Arg) NC_000004.12:54729454:A:G Identity +NM_001347827.2:c.2150C>T NP_001334756.1:p.Thr717Ile NC_000004.12:54278508:C:T p.(Thr717Ile) NC_000004.12:54278508:C:T p.(Thr717Ile) NC_000004.12:54278508:C:T Identity +NM_003000.3:c.172A>G NP_002991.2:p.Met58Val NC_000001.11:17044788:T:C p.(Met58Val) NC_000001.11:17044788:T:C p.(Met58Val) NC_000001.11:17044788:T:C Identity +NM_001354966.2:c.109A>C NP_001341895.1:p.Asn37His NC_000005.10:147828106:T:G p.(Asn37His) NC_000005.10:147828106:T:G p.(Asn37His) NC_000005.10:147828106:T:G Identity +NM_032043.3:c.3038C>T NP_114432.2:p.Thr1013Ile NC_000017.11:61684007:G:A p.(Thr1013Ile) NC_000017.11:61684007:G:A p.(Thr1013Ile) NC_000017.11:61684007:G:A Identity +NM_000410.4:c.389A>G NP_000401.1:p.Asn130Ser NC_000006.12:26091361:A:G p.(Asn130Ser) NC_000006.12:26091361:A:G p.(Asn130Ser) NC_000006.12:26091361:A:G Identity +NM_001130438.3:c.4075C>T NP_001123910.1:p.Arg1359Trp NC_000009.12:128607631:C:T p.(Arg1359Trp) NC_000009.12:128607631:C:T p.(Arg1359Trp) NC_000009.12:128607631:C:T Identity +NM_025014.2:c.1045G>C NP_079290.1:p.Asp349His NC_000017.11:8314960:G:C p.(Asp349His) NC_000017.11:8314960:G:C p.(Asp349His) NC_000017.11:8314960:G:C Identity +NM_000090.4:c.1484G>A NP_000081.2:p.Gly495Glu NC_000002.12:188995073:G:A p.(Gly495Glu) NC_000002.12:188995073:G:A p.(Gly495Glu) NC_000002.12:188995073:G:A Identity +NM_001159508.3:c.758A>G NP_001152980.2:p.Glu253Gly NC_000015.10:40414951:A:G p.(Glu253Gly) NC_000015.10:40414951:A:G p.(Glu253Gly) NC_000015.10:40414951:A:G Identity +NM_004260.4:c.251G>C NP_004251.4:p.Arg84Pro NC_000008.11:144517152:C:G p.(Arg84Pro) NC_000008.11:144517152:C:G p.(Arg84Pro) NC_000008.11:144517152:C:G Identity +NM_004260.4:c.3379C>T NP_004251.4:p.Pro1127Ser NC_000008.11:144511924:G:A p.(Pro1127Ser) NC_000008.11:144511924:G:A p.(Pro1127Ser) NC_000008.11:144511924:G:A Identity +NM_000222.3:c.2732C>A NP_000213.1:p.Pro911His NC_000004.12:54737209:C:A p.(Pro911His) NC_000004.12:54737209:C:A p.(Pro911His) NC_000004.12:54737209:C:A Identity +NM_001347828.2:c.3063_3065del NP_001334757.1:p.Glu1022del NC_000004.12:54290417:GAGGA:GA p.(Glu1022del) NC_000004.12:54290417:GAGGA:GA p.(Glu1022del) NC_000004.12:54290419:GGA: Identity +NM_001347827.2:c.629C>A NP_001334756.1:p.Ala210Glu NC_000004.12:54264918:C:A p.(Ala210Glu) NC_000004.12:54264918:C:A p.(Ala210Glu) NC_000004.12:54264918:C:A Identity +NM_004260.4:c.802C>T NP_004251.4:p.Pro268Ser NC_000008.11:144516316:G:A p.(Pro268Ser) NC_000008.11:144516316:G:A p.(Pro268Ser) NC_000008.11:144516316:G:A Identity +NM_001014763.1:c.395T>C NP_001014763.1:p.Phe132Ser NC_000019.10:51354243:A:G p.(Phe132Ser) NC_000019.10:51354243:A:G p.(Phe132Ser) NC_000019.10:51354243:A:G Identity +NM_001282948.2:c.464G>A NP_001269877.1:p.Arg155Gln NC_000010.11:63215267:C:T p.(Arg155Gln) NC_000010.11:63215267:C:T p.(Arg155Gln) NC_000010.11:63215267:C:T Identity +NM_001322252.2:c.56T>A NP_001309181.1:p.Val19Asp NC_000010.11:63465606:A:T p.(Val19Asp) NC_000010.11:63465606:A:T p.(Val19Asp) NC_000010.11:63465606:A:T Identity +NM_001282948.2:c.841C>T NP_001269877.1:p.His281Tyr NC_000010.11:63214779:G:A p.(His281Tyr) NC_000010.11:63214779:G:A p.(His281Tyr) NC_000010.11:63214779:G:A Identity +NM_000017.4:c.460C>T NP_000008.1:p.Leu154Phe NC_000012.12:120737454:C:T p.(Leu154Phe) NC_000012.12:120737454:C:T p.(Leu154Phe) NC_000012.12:120737454:C:T Identity +NM_000059.4:c.3797A>T NP_000050.3:p.His1266Leu NC_000013.11:32338151:A:T p.(His1266Leu) NC_000013.11:32338151:A:T p.(His1266Leu) NC_000013.11:32338151:A:T Identity +NM_000059.4:c.4007T>C NP_000050.3:p.Phe1336Ser NC_000013.11:32338361:T:C p.(Phe1336Ser) NC_000013.11:32338361:T:C p.(Phe1336Ser) NC_000013.11:32338361:T:C Identity +NM_000059.4:c.8918G>C NP_000050.3:p.Arg2973Pro NC_000013.11:32379479:G:C p.(Arg2973Pro) NC_000013.11:32379479:G:C p.(Arg2973Pro) NC_000013.11:32379479:G:C Identity +NM_001316690.1:c.1920del NP_001303619.1:p.Lys641fs NC_000008.11:60862641:TT:T p.(Lys641SerfsTer19) NC_000008.11:60862641:TT:T p.(Lys641SerfsTer19) NC_000008.11:60862642:T: Analogous +NM_000143.4:c.700A>C NP_000134.2:p.Thr234Pro NC_000001.11:241508640:T:G p.(Thr234Pro) NC_000001.11:241508640:T:G p.(Thr234Pro) NC_000001.11:241508640:T:G Identity +NM_012213.3:c.1081A>G NP_036345.2:p.Lys361Glu NC_000016.10:83915087:A:G p.(Lys361Glu) NC_000016.10:83915087:A:G p.(Lys361Glu) NC_000016.10:83915087:A:G Identity +NM_000465.4:c.1877A>T NP_000456.2:p.Asn626Ile NC_000002.12:214745092:T:A p.(Asn626Ile) NC_000002.12:214745092:T:A p.(Asn626Ile) NC_000002.12:214745092:T:A Identity +NM_001033604.2:c.310del NP_001028776.1:p.Cys104fs NC_000007.14:33155681:TTT:TT p.(Cys104ValfsTer20) NC_000007.14:33155681:TTT:TT p.(Cys104ValfsTer20) NC_000007.14:33155683:T: Analogous +NM_004329.3:c.886A>G NP_004320.2:p.Ile296Val NC_000010.11:86919188:A:G p.(Ile296Val) NC_000010.11:86919188:A:G p.(Ile296Val) NC_000010.11:86919188:A:G Identity +NM_001005407.2:c.6937_6939del NP_001005407.1:p.Glu2313del NC_000016.10:1220886:GAG: p.(Glu2313del) NC_000016.10:1220886:GAG: p.(Glu2313del) NC_000016.10:1220886:GAG: Identity +NM_000355.4:c.70C>T NP_000346.2:p.Pro24Ser NC_000022.11:30610875:C:T p.(Pro24Ser) NC_000022.11:30610875:C:T p.(Pro24Ser) NC_000022.11:30610875:C:T Identity +NM_000096.4:c.1313A>G NP_000087.2:p.Glu438Gly NC_000003.12:149202136:T:C p.(Glu438Gly) NC_000003.12:149202136:T:C p.(Glu438Gly) NC_000003.12:149202136:T:C Identity +NM_001014794.3:c.206C>T NP_001014794.1:p.Thr69Ile NC_000011.10:6608161:C:T p.(Thr69Ile) NC_000011.10:6608161:C:T p.(Thr69Ile) NC_000011.10:6608161:C:T Identity +NM_004329.3:c.97A>G NP_004320.2:p.Thr33Ala NC_000010.11:86890090:A:G p.(Thr33Ala) NC_000010.11:86890090:A:G p.(Thr33Ala) NC_000010.11:86890090:A:G Identity +NM_004329.3:c.983C>G NP_004320.2:p.Thr328Ser NC_000010.11:86919285:C:G p.(Thr328Ser) NC_000010.11:86919285:C:G p.(Thr328Ser) NC_000010.11:86919285:C:G Identity +NM_000465.4:c.1053_1054delinsCA NP_000456.2:p.Val352Met NC_000002.12:214780819:CC:TG p.(Val352Met) NC_000002.12:214780819:CC:TG p.(Val352Met) NC_000002.12:214780819:CC:TG Identity +NM_032043.3:c.364T>G NP_114432.2:p.Ser122Ala NC_000017.11:61857072:A:C p.(Ser122Ala) NC_000017.11:61857072:A:C p.(Ser122Ala) NC_000017.11:61857072:A:C Identity +NM_001206855.3:c.614C>A NP_001193784.1:p.Ala205Asp NC_000007.14:100631031:G:T p.(Ala205Asp) NC_000007.14:100631031:G:T p.(Ala205Asp) NC_000007.14:100631031:G:T Identity +NM_001165963.4:c.4807G>T NP_001159435.1:p.Gly1603Ter NC_000002.12:165994190:C:A p.(Gly1603Ter) NC_000002.12:165994190:C:A p.(Gly1603Ter) NC_000002.12:165994190:C:A Identity +NM_024675.4:c.2641G>A NP_078951.2:p.Gly881Ser NC_000016.10:23626342:C:T p.(Gly881Ser) NC_000016.10:23626342:C:T p.(Gly881Ser) NC_000016.10:23626342:C:T Identity +NM_032043.3:c.1012G>A NP_114432.2:p.Glu338Lys NC_000017.11:61801380:C:T p.(Glu338Lys) NC_000017.11:61801380:C:T p.(Glu338Lys) NC_000017.11:61801380:C:T Identity +NM_001165963.4:c.4567A>G NP_001159435.1:p.Ile1523Val NC_000002.12:165996026:T:C p.(Ile1523Val) NC_000002.12:165996026:T:C p.(Ile1523Val) NC_000002.12:165996026:T:C Identity +NM_032043.3:c.1859T>A NP_114432.2:p.Met620Lys NC_000017.11:61780336:A:T p.(Met620Lys) NC_000017.11:61780336:A:T p.(Met620Lys) NC_000017.11:61780336:A:T Identity +NM_001165963.4:c.4462del NP_001159435.1:p.Gln1488fs NC_000002.12:165998051:GG:G p.(Gln1488SerfsTer13) NC_000002.12:165998051:GG:G p.(Gln1488SerfsTer13) NC_000002.12:165998051:G: Analogous +NM_001032221.6:c.1540G>A NP_001027392.1:p.Ala514Thr NC_000009.12:127680234:G:A p.(Ala514Thr) NC_000009.12:127680234:G:A p.(Ala514Thr) NC_000009.12:127680234:G:A Identity +NM_020988.3:c.425A>G NP_066268.1:p.Asn142Ser NC_000016.10:56328751:A:G p.(Asn142Ser) NC_000016.10:56328751:A:G p.(Asn142Ser) NC_000016.10:56328751:A:G Identity +NM_004518.6:c.31T>C NP_004509.2:p.Tyr11His NC_000020.11:63472432:A:G p.(Tyr11His) NC_000020.11:63472432:A:G p.(Tyr11His) NC_000020.11:63472432:A:G Identity +NM_025014.2:c.768C>G NP_079290.1:p.Ile256Met NC_000017.11:8313087:C:G p.(Ile256Met) NC_000017.11:8313087:C:G p.(Ile256Met) NC_000017.11:8313087:C:G Identity +NM_001142929.2:c.937G>T NP_001136401.2:p.Gly313Cys NC_000010.11:49648515:G:T p.(Gly313Cys) NC_000010.11:49648515:G:T p.(Gly313Cys) NC_000010.11:49648515:G:T Identity +NM_001024688.3:c.1292C>T NP_001019859.1:p.Pro431Leu NC_000008.11:89953550:G:A p.(Pro431Leu) NC_000008.11:89953550:G:A p.(Pro431Leu) NC_000008.11:89953550:G:A Identity +NM_020451.3:c.1378T>C NP_065184.2:p.Ser460Pro NC_000001.11:25812782:T:C p.(Ser460Pro) NC_000001.11:25812782:T:C p.? NC_000001.11:25812782:T:C Identity +NM_020451.3:c.1469G>A NP_065184.2:p.Trp490Ter NC_000001.11:25813961:G:A p.(Trp490Ter) NC_000001.11:25813961:G:A p.? NC_000001.11:25813961:G:A Identity +NM_001367634.1:c.2114A>G NP_001354563.1:p.Asn705Ser NC_000007.14:869481:A:G p.(Asn705Ser) NC_000007.14:869481:A:G p.(Asn705Ser) NC_000007.14:869481:A:G Identity +NM_001320632.2:c.9G>C NP_001307561.1:p.Glu3Asp NC_000002.12:127106934:C:G p.(Glu3Asp) NC_000002.12:127106934:C:G p.(Glu3Asp) NC_000002.12:127106934:C:G Identity +NM_001277961.3:c.340C>T NP_001264890.1:p.Leu114Phe NC_000011.10:4023941:C:T p.(Leu114Phe) NC_000011.10:4023941:C:T p.(Leu114Phe) NC_000011.10:4023941:C:T Identity +NM_001367678.1:c.2640C>T NP_001354607.1:p.Pro880= NC_000007.14:873222:C:T p.(Pro880=) NC_000007.14:873222:C:T p.(Pro880=) NC_000007.14:873222:C:T Identity +NM_001320633.2:c.1073C>T NP_001307562.1:p.Ala358Val NC_000002.12:127051172:G:A p.(Ala358Val) NC_000002.12:127051172:G:A p.(Ala358Val) NC_000002.12:127051172:G:A Identity +NM_000059.4:c.2677C>T NP_000050.3:p.Gln893Ter NC_000013.11:32337031:C:T p.(Gln893Ter) NC_000013.11:32337031:C:T p.(Gln893Ter) NC_000013.11:32337031:C:T Identity +NM_000059.4:c.3101T>G NP_000050.3:p.Ile1034Ser NC_000013.11:32337455:T:G p.(Ile1034Ser) NC_000013.11:32337455:T:G p.(Ile1034Ser) NC_000013.11:32337455:T:G Identity +NM_001036.6:c.1487A>G NP_001027.3:p.Asn496Ser NC_000015.10:33581556:A:G p.(Asn496Ser) NC_000015.10:33581556:A:G p.(Asn496Ser) NC_000015.10:33581556:A:G Identity +NM_001036.6:c.1295T>G NP_001027.3:p.Ile432Ser NC_000015.10:33580001:T:G p.(Ile432Ser) NC_000015.10:33580001:T:G p.(Ile432Ser) NC_000015.10:33580001:T:G Identity +NM_000059.4:c.2133C>G NP_000050.3:p.Cys711Trp NC_000013.11:32336487:C:G p.(Cys711Trp) NC_000013.11:32336487:C:G p.(Cys711Trp) NC_000013.11:32336487:C:G Identity +NM_000059.4:c.1939T>G NP_000050.3:p.Cys647Gly NC_000013.11:32336293:T:G p.(Cys647Gly) NC_000013.11:32336293:T:G p.(Cys647Gly) NC_000013.11:32336293:T:G Identity +NM_000059.4:c.6841G>A NP_000050.3:p.Gly2281Arg NC_000013.11:32341195:G:A p.(Gly2281Arg) NC_000013.11:32341195:G:A p.(Gly2281Arg) NC_000013.11:32341195:G:A Identity +NM_000059.4:c.7579G>A NP_000050.3:p.Val2527Ile NC_000013.11:32356570:G:A p.(Val2527Ile) NC_000013.11:32356570:G:A p.(Val2527Ile) NC_000013.11:32356570:G:A Identity +NM_000059.4:c.5938A>C NP_000050.3:p.Thr1980Pro NC_000013.11:32340292:A:C p.(Thr1980Pro) NC_000013.11:32340292:A:C p.(Thr1980Pro) NC_000013.11:32340292:A:C Identity +NM_000059.4:c.5297dup NP_000050.3:p.Asn1766fs NC_000013.11:32339646:AAAAAA:AAAAAAA p.(Asn1766LysfsTer2) NC_000013.11:32339646:AAAAAA:AAAAAAA p.(Asn1766LysfsTer2) ERR:SPDI Analogous +NM_000059.4:c.5720C>T NP_000050.3:p.Ser1907Phe NC_000013.11:32340074:C:T p.(Ser1907Phe) NC_000013.11:32340074:C:T p.(Ser1907Phe) NC_000013.11:32340074:C:T Identity +NM_000059.4:c.7488G>C NP_000050.3:p.Lys2496Asn NC_000013.11:32356479:G:C p.(Lys2496Asn) NC_000013.11:32356479:G:C p.(Lys2496Asn) NC_000013.11:32356479:G:C Identity +NM_000304.4:c.103G>A NP_000295.1:p.Ala35Thr NC_000017.11:15259168:C:T p.(Ala35Thr) NC_000017.11:15259168:C:T p.(Ala35Thr) NC_000017.11:15259168:C:T Identity +NM_198586.3:c.307G>T NP_940988.2:p.Ala103Ser NC_000006.12:18122299:C:A p.(Ala103Ser) NC_000006.12:18122299:C:A p.(Ala103Ser) NC_000006.12:18122299:C:A Identity +NM_001145527.2:c.1382A>G NP_001138999.1:p.Tyr461Cys NC_000009.12:137757891:A:G p.(Tyr461Cys) NC_000009.12:137757891:A:G p.(Tyr461Cys) NC_000009.12:137757891:A:G Identity +NM_001407571.1:c.3937G>A NP_001394500.1:p.Gly1313Arg NC_000017.11:43090978:C:T p.(Gly1313Arg) NC_000017.11:43090978:C:T p.(Gly1313Arg) NC_000017.11:43090978:C:T Identity +NM_001293557.2:c.2288G>A NP_001280486.1:p.Arg763Gln NC_000016.10:50712279:G:A p.(Arg763Gln) NC_000016.10:50712279:G:A p.(Arg763Gln) NC_000016.10:50712279:G:A Identity +NM_000481.4:c.476A>G NP_000472.2:p.Lys159Arg NC_000003.12:49419783:T:C p.(Lys159Arg) NC_000003.12:49419783:T:C p.(Lys159Arg) NC_000003.12:49419783:T:C Identity +NM_004483.5:c.218A>G NP_004474.2:p.Asn73Ser NC_000016.10:81090610:T:C p.(Asn73Ser) NC_000016.10:81090610:T:C p.(Asn73Ser) NC_000016.10:81090610:T:C Identity +NM_001018041.2:c.825G>A NP_001018051.1:p.Ala275= NC_000006.12:145627586:C:T p.(Ala275=) NC_000006.12:145627586:C:T p.(Ala275=) NC_000006.12:145627586:C:T Identity +NM_001407571.1:c.175G>T NP_001394500.1:p.Gly59Cys NC_000017.11:43104177:C:A p.(Gly59Cys) NC_000017.11:43104177:C:A p.(Gly59Cys) NC_000017.11:43104177:C:A Identity +NM_000170.3:c.1889G>C NP_000161.2:p.Arg630Pro NC_000009.12:6565390:C:G p.(Arg630Pro) NC_000009.12:6565390:C:G p.(Arg630Pro) NC_000009.12:6565390:C:G Identity +NM_000170.3:c.646A>G NP_000161.2:p.Arg216Gly NC_000009.12:6606658:T:C p.(Arg216Gly) NC_000009.12:6606658:T:C p.(Arg216Gly) NC_000009.12:6606658:T:C Identity +NM_198586.3:c.494G>A NP_940988.2:p.Gly165Glu NC_000006.12:18122112:C:T p.(Gly165Glu) NC_000006.12:18122112:C:T p.(Gly165Glu) NC_000006.12:18122112:C:T Identity +NM_001014794.3:c.337G>T NP_001014794.1:p.Asp113Tyr NC_000011.10:6608474:G:T p.(Asp113Tyr) NC_000011.10:6608474:G:T p.(Asp113Tyr) NC_000011.10:6608474:G:T Identity +NM_001293306.2:c.5600A>C NP_001280235.2:p.His1867Pro NC_000003.12:38697616:T:G p.(His1867Pro) NC_000003.12:38697616:T:G p.(His1867Pro) NC_000003.12:38697616:T:G Identity +NM_001293306.2:c.5368C>A NP_001280235.2:p.Pro1790Thr NC_000003.12:38697848:G:T p.(Pro1790Thr) NC_000003.12:38697848:G:T p.(Pro1790Thr) NC_000003.12:38697848:G:T Identity +NM_000335.5:c.1366G>A NP_000326.2:p.Val456Met NC_000003.12:38604880:C:T p.(Val456Met) NC_000003.12:38604880:C:T p.(Val456Met) NC_000003.12:38604880:C:T Identity +NM_003079.5:c.868G>A NP_003070.3:p.Ala290Thr NC_000017.11:40630872:C:T p.(Ala290Thr) NC_000017.11:40630872:C:T p.(Ala290Thr) NC_000017.11:40630872:C:T Identity +NM_001317184.2:c.2437G>C NP_001304113.1:p.Asp813His NC_000016.10:68833469:G:C p.(Asp813His) NC_000016.10:68833469:G:C p.(Asp813His) NC_000016.10:68833469:G:C Identity +NM_001271068.2:c.60T>C NP_001257997.1:p.Asn20= NC_000014.9:65093791:A:G p.(Asn20=) NC_000014.9:65093791:A:G p.(Asn20=) NC_000014.9:65093791:A:G Identity +LRG_402t1:c.2969C>A LRG_402p1:p.Pro990Gln NC_000001.11:237548492:C:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +LRG_402t1:c.7060G>A LRG_402p1:p.Ala2354Thr NC_000001.11:237639145:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000388.4:c.40A>G NP_000379.3:p.Thr14Ala NC_000003.12:122254228:A:G p.(Thr14Ala) NC_000003.12:122254228:A:G p.(Thr14Ala) NC_000003.12:122254228:A:G Identity +NM_001142617.2:c.367G>C NP_001136089.1:p.Ala123Pro NC_000015.10:74196046:C:G p.(Ala123Pro) NC_000015.10:74196046:C:G p.(Ala123Pro) NC_000015.10:74196046:C:G Identity +NM_000217.3:c.224C>A NP_000208.2:p.Pro75His NC_000012.12:4911601:C:A p.(Pro75His) NC_000012.12:4911601:C:A p.(Pro75His) NC_000012.12:4911601:C:A Identity +NM_000388.4:c.992G>A NP_000379.3:p.Arg331Gln NC_000003.12:122262026:G:A p.(Arg331Gln) NC_000003.12:122262026:G:A p.(Arg331Gln) NC_000003.12:122262026:G:A Identity +NM_025216.3:c.1212C>G NP_079492.2:p.Cys404Trp NC_000002.12:218893228:C:G p.(Cys404Trp) NC_000002.12:218893228:C:G p.(Cys404Trp) NC_000002.12:218893228:C:G Identity +NM_001305005.3:c.713A>G NP_001291934.1:p.Tyr238Cys NC_000002.12:108002011:A:G p.(Tyr238Cys) NC_000002.12:108002011:A:G p.(Tyr238Cys) NC_000002.12:108002011:A:G Identity +NM_001363813.1:c.1225C>G NP_001350742.1:p.Leu409Val NC_000017.11:65537810:G:C p.(Leu409Val) NC_000017.11:65537810:G:C p.(Leu409Val) NC_000017.11:65537810:G:C Identity +NM_001363813.1:c.722G>A NP_001350742.1:p.Cys241Tyr NC_000017.11:65557898:C:T p.(Cys241Tyr) NC_000017.11:65557898:C:T p.(Cys241Tyr) NC_000017.11:65557898:C:T Identity +NM_001363813.1:c.944C>T NP_001350742.1:p.Thr315Met NC_000017.11:65549531:G:A p.(Thr315Met) NC_000017.11:65549531:G:A p.(Thr315Met) NC_000017.11:65549531:G:A Identity +NM_001191028.3:c.1241T>C NP_001177957.2:p.Ile414Thr NC_000007.14:128993831:A:G p.(Ile414Thr) NC_000007.14:128993831:A:G p.(Ile414Thr) NC_000007.14:128993831:A:G Identity +NM_001363813.1:c.1404CCA[5] NP_001350742.1:p.His474del NC_000017.11:65537614:TGGTGGTGGTGGTGGTGGT:TGGTGGTGGTGGTGGT p.(His474del) NC_000017.11:65537631:G:TGGTGGTGGTGGTGG ERR:Parse ERR:Parse Identity +NM_001377273.1:c.2889_2891del NP_001364202.1:p.Glu963del NC_000012.12:21845807:TCCTC:TC p.(Glu963del) NC_000012.12:21845807:TCCTC:TC p.(Glu963del) NC_000012.12:21845807:TCC: Identity +NM_001191028.3:c.1735C>T NP_001177957.2:p.Pro579Ser NC_000007.14:128979116:G:A p.(Pro579Ser) NC_000007.14:128979116:G:A p.(Pro579Ser) NC_000007.14:128979116:G:A Identity +NM_003680.4:c.746T>G NP_003671.1:p.Phe249Cys NC_000001.11:32787013:A:C p.(Phe249Cys) NC_000001.11:32787013:A:C p.(Phe249Cys) NC_000001.11:32787013:A:C Identity +NM_001110556.2:c.4424C>T NP_001104026.1:p.Thr1475Ile NC_000023.11:154359033:G:A p.(Thr1475Ile) NC_000023.11:154359033:G:A p.(Thr1475Ile) NC_000023.11:154359033:G:A Identity +NM_001110556.2:c.7463C>A NP_001104026.1:p.Thr2488Asn NC_000023.11:154349737:G:T p.(Thr2488Asn) NC_000023.11:154349737:G:T p.(Thr2488Asn) NC_000023.11:154349737:G:T Identity +NM_000489.6:c.2472G>C NP_000480.3:p.Glu824Asp NC_000023.11:77682783:C:G p.(Glu824Asp) NC_000023.11:77682783:C:G p.(Glu824Asp) NC_000023.11:77682783:C:G Identity +NM_001276503.2:c.252G>A NP_001263432.1:p.Gln84= NC_000011.10:112094886:G:A p.(Gln84=) NC_000011.10:112094886:G:A p.(Gln84=) NC_000011.10:112094886:G:A Identity +NM_001540.5:c.554T>C NP_001531.1:p.Phe185Ser NC_000007.14:76304108:T:C p.(Phe185Ser) NC_000007.14:76304108:T:C p.(Phe185Ser) NC_000007.14:76304108:T:C Identity +NM_001211.6:c.242A>G NP_001202.5:p.Tyr81Cys NC_000015.10:40170538:A:G p.(Tyr81Cys) NC_000015.10:40170538:A:G p.(Tyr81Cys) NC_000015.10:40170538:A:G Identity +NM_001164507.2:c.12977G>A NP_001157979.2:p.Arg4326His NC_000002.12:151604641:C:T p.(Arg4326His) NC_000002.12:151604641:C:T p.(Arg4326His) NC_000002.12:151604641:C:T Identity +NM_001164507.2:c.22183G>A NP_001157979.2:p.Val7395Ile NC_000002.12:151525251:C:T p.(Val7395Ile) NC_000002.12:151525251:C:T p.(Val7395Ile) NC_000002.12:151525251:C:T Identity +NM_001164507.2:c.25163G>A NP_001157979.2:p.Arg8388His NC_000002.12:151490505:C:T p.(Arg8388His) NC_000002.12:151490505:C:T p.(Arg8388His) NC_000002.12:151490505:C:T Identity +NM_001040113.2:c.5113G>A NP_001035202.1:p.Ala1705Thr NC_000016.10:15719298:C:T p.(Ala1705Thr) NC_000016.10:15719298:C:T p.(Ala1705Thr) NC_000016.10:15719298:C:T Identity +NM_004415.4:c.5353G>A NP_004406.2:p.Glu1785Lys NC_000006.12:7581542:G:A p.(Glu1785Lys) NC_000006.12:7581542:G:A p.(Glu1785Lys) NC_000006.12:7581542:G:A Identity +NM_001301012.2:c.361C>A NP_001287941.1:p.Pro121Thr NC_000006.12:133462419:C:A p.(Pro121Thr) NC_000006.12:133462419:C:A p.(Pro121Thr) NC_000006.12:133462419:C:A Identity +NM_000368.5:c.1489G>C NP_000359.1:p.Val497Leu NC_000009.12:132906088:C:G p.(Val497Leu) NC_000009.12:132906088:C:G p.(Val497Leu) NC_000009.12:132906088:C:G Identity +NM_000368.5:c.2177_2180dup NP_000359.1:p.Ala728fs NC_000009.12:132903678:GCTG:GCTGGCTG p.(Ala728SerfsTer7) NC_000009.12:132903678:GCTG:GCTGGCTG p.(Ala728SerfsTer7) ERR:SPDI Analogous +NM_006158.5:c.983C>A NP_006149.2:p.Ala328Glu NC_000008.11:24955532:G:T p.(Ala328Glu) NC_000008.11:24955532:G:T p.(Ala328Glu) NC_000008.11:24955532:G:T Identity +NM_001008844.3:c.465del NP_001008844.1:p.Ile156fs NC_000006.12:7559266:CC:C p.(Ile156SerfsTer40) NC_000006.12:7559266:CC:C p.(Ile156SerfsTer40) NC_000006.12:7559267:C: Analogous +NM_000489.6:c.2696C>T NP_000480.3:p.Thr899Met NC_000023.11:77682559:G:A p.(Thr899Met) NC_000023.11:77682559:G:A p.(Thr899Met) NC_000023.11:77682559:G:A Identity +NM_014467.3:c.1289G>A NP_055282.1:p.Arg430His NC_000023.11:100670877:G:A p.(Arg430His) NC_000023.11:100670877:G:A p.(Arg430His) NC_000023.11:100670877:G:A Identity +NM_001276503.2:c.28G>A NP_001263432.1:p.Val10Ile NC_000011.10:112086934:G:A p.(Val10Ile) NC_000011.10:112086934:G:A p.(Val10Ile) NC_000011.10:112086934:G:A Identity +NM_001281463.1:c.2884G>A NP_001268392.1:p.Gly962Ser NC_000023.11:53394800:C:T p.(Gly962Ser) NC_000023.11:53394800:C:T p.(Gly962Ser) NC_000023.11:53394800:C:T Identity +NM_001754.5:c.65T>A NP_001745.2:p.Ile22Lys NC_000021.9:34892956:A:T p.(Ile22Lys) NC_000021.9:34892956:A:T p.(Ile22Lys) NC_000021.9:34892956:A:T Identity +NM_017841.4:c.497G>A NP_060311.1:p.Arg166His NC_000011.10:61446066:G:A p.(Arg166His) NC_000011.10:61446066:G:A p.(Arg166His) NC_000011.10:61446066:G:A Identity +NM_000388.4:c.1297G>C NP_000379.3:p.Asp433His NC_000003.12:122262331:G:C p.(Asp433His) NC_000003.12:122262331:G:C p.(Asp433His) NC_000003.12:122262331:G:C Identity +NM_014908.4:c.344C>T NP_055723.1:p.Ala115Val NC_000009.12:128946959:G:A p.(Ala115Val) NC_000009.12:128946959:G:A p.(Ala115Val) NC_000009.12:128946959:G:A Identity +NM_001244008.2:c.4985G>A NP_001230937.1:p.Arg1662His NC_000002.12:240719809:C:T p.(Arg1662His) NC_000002.12:240719809:C:T p.(Arg1662His) NC_000002.12:240719809:C:T Identity +NM_001363813.1:c.646G>A NP_001350742.1:p.Gly216Arg NC_000017.11:65557974:C:T p.(Gly216Arg) NC_000017.11:65557974:C:T p.(Gly216Arg) NC_000017.11:65557974:C:T Identity +NM_001164507.2:c.19724G>T NP_001157979.2:p.Arg6575Leu NC_000002.12:151553404:C:A p.(Arg6575Leu) NC_000002.12:151553404:C:A p.(Arg6575Leu) NC_000002.12:151553404:C:A Identity +NM_001110556.2:c.3416T>G NP_001104026.1:p.Leu1139Arg NC_000023.11:154360378:A:C p.(Leu1139Arg) NC_000023.11:154360378:A:C p.(Leu1139Arg) NC_000023.11:154360378:A:C Identity +NM_000368.5:c.1772C>A NP_000359.1:p.Pro591Gln NC_000009.12:132905805:G:T p.(Pro591Gln) NC_000009.12:132905805:G:T p.(Pro591Gln) NC_000009.12:132905805:G:T Identity +NM_000593.6:c.1109C>T NP_000584.3:p.Ala370Val NC_000006.12:32850458:G:A p.(Ala370Val) NC_000006.12:32850458:G:A p.(Ala370Val) NC_000006.12:32850458:G:A Identity +NM_001160227.2:c.6238T>G NP_001153699.1:p.Leu2080Val NC_000015.10:44569405:A:C p.(Leu2080Val) NC_000015.10:44569405:A:C p.(Leu2080Val) NC_000015.10:44569405:A:C Identity +NM_002180.3:c.4G>T NP_002171.2:p.Ala2Ser NC_000011.10:68903955:G:T p.(Ala2Ser) NC_000011.10:68903955:G:T p.(Ala2Ser) NC_000011.10:68903955:G:T Identity +NM_001256850.1:c.96368C>G NP_001243779.1:p.Ala32123Gly NC_000002.12:178535323:G:C p.(Ala32123Gly) NC_000002.12:178535323:G:C p.(Ala32123Gly) NC_000002.12:178535323:G:C Identity +NM_001267550.2:c.10589A>T NP_001254479.2:p.Tyr3530Phe NC_000002.12:178757630:T:A p.(Tyr3530Phe) NC_000002.12:178757630:T:A p.(Tyr3530Phe) NC_000002.12:178757630:T:A Identity +NM_001256850.1:c.101972G>T NP_001243779.1:p.Gly33991Val NC_000002.12:178528855:C:A p.(Gly33991Val) NC_000002.12:178528855:C:A p.(Gly33991Val) NC_000002.12:178528855:C:A Identity +NM_001256850.1:c.19514A>G NP_001243779.1:p.Asn6505Ser NC_000002.12:178725856:T:C p.(Asn6505Ser) NC_000002.12:178725856:T:C p.(Asn6505Ser) NC_000002.12:178725856:T:C Identity +NM_001005360.3:c.695T>A NP_001005360.1:p.Ile232Asn NC_000019.10:10782965:T:A p.(Ile232Asn) NC_000019.10:10782965:T:A p.(Ile232Asn) NC_000019.10:10782965:T:A Identity +NM_001306153.1:c.1069A>G NP_001293082.1:p.Lys357Glu NC_000005.10:10261697:A:G p.(Lys357Glu) NC_000005.10:10261697:A:G p.(Lys357Glu) NC_000005.10:10261697:A:G Identity +NM_001164507.2:c.24299C>T NP_001157979.2:p.Ser8100Leu NC_000002.12:151497626:G:A p.(Ser8100Leu) NC_000002.12:151497626:G:A p.(Ser8100Leu) NC_000002.12:151497626:G:A Identity +NM_001182.5:c.532_542del NP_001173.2:p.Leu178fs NC_000005.10:126577186:TGCTCAATCAGTGC:TGC p.(Leu178ValfsTer46) NC_000005.10:126577186:TGCTCAATCAGTGC:TGC p.(Leu178ValfsTer46) NC_000005.10:126577186:TGCTCAATCAG: Analogous +NM_001164507.2:c.2249C>T NP_001157979.2:p.Thr750Met NC_000002.12:151690787:G:A p.(Thr750Met) NC_000002.12:151690787:G:A p.(Thr750Met) NC_000002.12:151690787:G:A Identity +NM_001164507.2:c.9587T>G NP_001157979.2:p.Leu3196Arg NC_000002.12:151631173:A:C p.(Leu3196Arg) NC_000002.12:151631173:A:C p.(Leu3196Arg) NC_000002.12:151631173:A:C Identity +NM_020376.4:c.425A>G NP_065109.1:p.Asn142Ser NC_000011.10:821961:A:G p.(Asn142Ser) NC_000011.10:821961:A:G p.(Asn142Ser) NC_000011.10:821961:A:G Identity +NM_001136271.3:c.121T>A NP_001129743.2:p.Phe41Ile NC_000008.11:23706477:A:T p.(Phe41Ile) NC_000008.11:23706477:A:T p.(Phe41Ile) NC_000008.11:23706477:A:T Identity +NM_145261.4:c.59G>A NP_660304.1:p.Arg20His NC_000003.12:180988092:C:T p.(Arg20His) NC_000003.12:180988092:C:T p.(Arg20His) NC_000003.12:180988092:C:T Identity +NM_024334.3:c.578C>T NP_077310.1:p.Ser193Leu NC_000003.12:14133803:C:T p.(Ser193Leu) NC_000003.12:14133803:C:T p.(Ser193Leu) NC_000003.12:14133803:C:T Identity +NM_001256850.1:c.102851C>A NP_001243779.1:p.Thr34284Asn NC_000002.12:178527213:G:T p.(Thr34284Asn) NC_000002.12:178527213:G:T p.(Thr34284Asn) NC_000002.12:178527213:G:T Identity +NM_001256850.1:c.102916A>G NP_001243779.1:p.Ile34306Val NC_000002.12:178527148:T:C p.(Ile34306Val) NC_000002.12:178527148:T:C p.(Ile34306Val) NC_000002.12:178527148:T:C Identity +NM_001256850.1:c.10373C>T NP_001243779.1:p.Ser3458Phe NC_000002.12:178741908:G:A p.(Ser3458Phe) NC_000002.12:178741908:G:A p.(Ser3458Phe) NC_000002.12:178741908:G:A Identity +NM_001256850.1:c.24538C>T NP_001243779.1:p.Arg8180Cys NC_000002.12:178717244:G:A p.(Arg8180Cys) NC_000002.12:178717244:G:A p.(Arg8180Cys) NC_000002.12:178717244:G:A Identity +NM_001256850.1:c.29014C>A NP_001243779.1:p.Pro9672Thr NC_000002.12:178704404:G:T p.(Pro9672Thr) NC_000002.12:178704404:G:T p.(Pro9672Thr) NC_000002.12:178704404:G:T Identity +NM_001256850.1:c.31591C>T NP_001243779.1:p.Pro10531Ser NC_000002.12:178684917:G:A p.(Pro10531Ser) NC_000002.12:178684917:G:A p.(Pro10531Ser) NC_000002.12:178684917:G:A Identity +NM_020376.4:c.128T>G NP_065109.1:p.Ile43Ser NC_000011.10:819845:T:G p.(Ile43Ser) NC_000011.10:819845:T:G p.(Ile43Ser) NC_000011.10:819845:T:G Identity +NM_001301012.2:c.224G>T NP_001287941.1:p.Gly75Val NC_000006.12:133461128:G:T p.(Gly75Val) NC_000006.12:133461128:G:T p.(Gly75Val) NC_000006.12:133461128:G:T Identity +NM_001126132.3:c.754G>A NP_001119604.1:p.Ala252Thr NC_000019.10:55132949:C:T p.(Ala252Thr) NC_000019.10:55132949:C:T p.(Ala252Thr) NC_000019.10:55132949:C:T Identity +NM_001267550.2:c.39928A>C NP_001254479.2:p.Lys13310Gln NC_000002.12:178649598:T:G p.(Lys13310Gln) NC_000002.12:178649598:T:G p.(Lys13310Gln) NC_000002.12:178649598:T:G Identity +NM_001256850.1:c.4784T>G NP_001243779.1:p.Ile1595Ser NC_000002.12:178777178:A:C p.(Ile1595Ser) NC_000002.12:178777178:A:C p.(Ile1595Ser) NC_000002.12:178777178:A:C Identity +NM_001256850.1:c.44637A>T NP_001243779.1:p.Lys14879Asn NC_000002.12:178613248:T:A p.(Lys14879Asn) NC_000002.12:178613248:T:A p.(Lys14879Asn) NC_000002.12:178613248:T:A Identity +NM_001256850.1:c.51428G>A NP_001243779.1:p.Arg17143His NC_000002.12:178599441:C:T p.(Arg17143His) NC_000002.12:178599441:C:T p.(Arg17143His) NC_000002.12:178599441:C:T Identity +NM_001943.5:c.677C>T NP_001934.2:p.Thr226Ile NC_000018.10:31522235:C:T p.(Thr226Ile) NC_000018.10:31522235:C:T p.(Thr226Ile) NC_000018.10:31522235:C:T Identity +NM_001136029.4:c.2261G>A NP_001129501.1:p.Arg754His NC_000022.11:31837088:G:A p.(Arg754His) NC_000022.11:31837088:G:A p.(Arg754His) NC_000022.11:31837088:G:A Identity +NM_001256850.1:c.58109T>A NP_001243779.1:p.Val19370Asp NC_000002.12:178588692:A:T p.(Val19370Asp) NC_000002.12:178588692:A:T p.(Val19370Asp) NC_000002.12:178588692:A:T Identity +NM_003924.4:c.929A>G NP_003915.2:p.Lys310Arg NC_000004.12:41745822:T:C p.(Lys310Arg) NC_000004.12:41745822:T:C p.(Lys310Arg) NC_000004.12:41745822:T:C Identity +NM_030777.4:c.611G>A NP_110404.1:p.Gly204Asp NC_000020.11:46725646:G:A p.(Gly204Asp) NC_000020.11:46725646:G:A p.(Gly204Asp) NC_000020.11:46725646:G:A Identity +NM_000548.5:c.2719G>T NP_000539.2:p.Asp907Tyr NC_000016.10:2076146:G:T p.(Asp907Tyr) NC_000016.10:2076146:G:T p.(Asp907Tyr) NC_000016.10:2076146:G:T Identity +NM_000548.5:c.4220_4222del NP_000539.2:p.Val1407del NC_000016.10:2084440:GTGG:G p.(Val1407del) NC_000016.10:2084440:GTGG:G p.(Val1407del) NC_000016.10:2084441:TGG: Identity +NM_001351527.2:c.3728A>G NP_001338456.1:p.Lys1243Arg NC_000009.12:132327869:T:C p.(Lys1243Arg) NC_000009.12:132327869:T:C p.(Lys1243Arg) NC_000009.12:132327869:T:C Identity +NM_003373.4:c.1713del NP_003364.1:p.Ala573fs NC_000010.11:74095824:A: p.(Ala573HisfsTer8) NC_000010.11:74095824:A: p.(Ala573HisfsTer8) NC_000010.11:74095824:A: Analogous +NM_001256850.1:c.61116del NP_001243779.1:p.Ser20373fs NC_000002.12:178582416:GG:G p.(Ser20373AlafsTer8) NC_000002.12:178582416:GG:G p.(Ser20373AlafsTer8) NC_000002.12:178582416:G: Analogous +NM_001256850.1:c.11728A>T NP_001243779.1:p.Thr3910Ser NC_000002.12:178740553:T:A p.(Thr3910Ser) NC_000002.12:178740553:T:A p.(Thr3910Ser) NC_000002.12:178740553:T:A Identity +NM_001267550.2:c.40250C>T NP_001254479.2:p.Pro13417Leu NC_000002.12:178646531:G:A p.(Pro13417Leu) NC_000002.12:178646531:G:A p.(Pro13417Leu) NC_000002.12:178646531:G:A Identity +NM_000038.6:c.3557A>T NP_000029.2:p.Asp1186Val NC_000005.10:112839150:A:T p.(Asp1186Val) NC_000005.10:112839150:A:T p.(Asp1186Val) NC_000005.10:112839150:A:T Identity +NM_000038.6:c.4657G>A NP_000029.2:p.Ala1553Thr NC_000005.10:112840250:G:A p.(Ala1553Thr) NC_000005.10:112840250:G:A p.(Ala1553Thr) NC_000005.10:112840250:G:A Identity +NM_000038.6:c.5635G>C NP_000029.2:p.Ala1879Pro NC_000005.10:112841228:G:C p.(Ala1879Pro) NC_000005.10:112841228:G:C p.(Ala1879Pro) NC_000005.10:112841228:G:C Identity +NM_000038.6:c.800G>A NP_000029.2:p.Gly267Glu NC_000005.10:112801348:G:A p.(Gly267Glu) NC_000005.10:112801348:G:A p.(Gly267Glu) NC_000005.10:112801348:G:A Identity +NM_001128844.3:c.1897G>T NP_001122316.1:p.Ala633Ser NC_000019.10:11003112:G:T p.(Ala633Ser) NC_000019.10:11003112:G:T p.(Ala633Ser) NC_000019.10:11003112:G:T Identity +NM_001128844.3:c.206T>C NP_001122316.1:p.Met69Thr NC_000019.10:10984356:T:C p.(Met69Thr) NC_000019.10:10984356:T:C p.(Met69Thr) NC_000019.10:10984356:T:C Identity +NM_005477.3:c.3289G>A NP_005468.1:p.Gly1097Arg NC_000015.10:73322803:C:T p.(Gly1097Arg) NC_000015.10:73322803:C:T p.(Gly1097Arg) NC_000015.10:73322803:C:T Identity +NM_004304.5:c.1565G>T NP_004295.2:p.Ser522Ile NC_000002.12:29318385:C:A p.(Ser522Ile) NC_000002.12:29318385:C:A p.(Ser522Ile) NC_000002.12:29318385:C:A Identity +NM_000751.3:c.1088G>A NP_000742.1:p.Arg363His NC_000002.12:232533970:G:A p.(Arg363His) NC_000002.12:232533970:G:A p.(Arg363His) NC_000002.12:232533970:G:A Identity +NM_001136029.4:c.3410A>G NP_001129501.1:p.Gln1137Arg NC_000022.11:31870695:A:G p.(Gln1137Arg) NC_000022.11:31870695:A:G p.(Gln1137Arg) NC_000022.11:31870695:A:G Identity +NM_001353765.2:c.546T>G NP_001340694.1:p.Ile182Met NC_000002.12:29209871:A:C p.(Ile182Met) NC_000002.12:29209871:A:C p.(Ile182Met) NC_000002.12:29209871:A:C Identity +NM_015180.6:c.17713G>A NP_055995.4:p.Val5905Met NC_000014.9:64188549:G:A p.(Val5905Met) NC_000014.9:64188549:G:A p.(Val5905Met) NC_000014.9:64188549:G:A Identity +NM_033071.5:c.17777A>G NP_149062.2:p.Glu5926Gly NC_000006.12:152293609:T:C p.(Glu5926Gly) NC_000006.12:152293609:T:C p.(Glu5926Gly) NC_000006.12:152293609:T:C Identity +NM_001365536.1:c.1349T>C NP_001352465.1:p.Ile450Thr NC_000002.12:166286588:A:G p.(Ile450Thr) NC_000002.12:166286588:A:G p.(Ile450Thr) NC_000002.12:166286588:A:G Identity +NM_001256850.1:c.71011G>A NP_001243779.1:p.Glu23671Lys NC_000002.12:178570197:C:T p.(Glu23671Lys) NC_000002.12:178570197:C:T p.(Glu23671Lys) NC_000002.12:178570197:C:T Identity +NM_001256850.1:c.79415C>T NP_001243779.1:p.Ser26472Phe NC_000002.12:178561793:G:A p.(Ser26472Phe) NC_000002.12:178561793:G:A p.(Ser26472Phe) NC_000002.12:178561793:G:A Identity +NM_001256850.1:c.83017G>A NP_001243779.1:p.Ala27673Thr NC_000002.12:178557321:C:T p.(Ala27673Thr) NC_000002.12:178557321:C:T p.(Ala27673Thr) NC_000002.12:178557321:C:T Identity +NM_001256850.1:c.92614C>T NP_001243779.1:p.Arg30872Cys NC_000002.12:178541539:G:A p.(Arg30872Cys) NC_000002.12:178541539:G:A p.(Arg30872Cys) NC_000002.12:178541539:G:A Identity +NM_000548.5:c.5003T>C NP_000539.2:p.Phe1668Ser NC_000016.10:2087875:T:C p.(Phe1668Ser) NC_000016.10:2087875:T:C p.(Phe1668Ser) NC_000016.10:2087875:T:C Identity +NM_001193465.2:c.1900G>A NP_001180394.1:p.Ala634Thr NC_000017.11:46050652:C:T p.(Ala634Thr) NC_000017.11:46050652:C:T p.(Ala634Thr) NC_000017.11:46050652:C:T Identity +NM_000232.5:c.725A>C NP_000223.1:p.His242Pro NC_000004.12:52027995:T:G p.(His242Pro) NC_000004.12:52027995:T:G p.(His242Pro) NC_000004.12:52027995:T:G Identity +NM_001256850.1:c.95182C>T NP_001243779.1:p.Gln31728Ter NC_000002.12:178537003:G:A p.(Gln31728Ter) NC_000002.12:178537003:G:A p.(Gln31728Ter) NC_000002.12:178537003:G:A Identity +NM_001256850.1:c.98069A>G NP_001243779.1:p.Tyr32690Cys NC_000002.12:178533622:T:C p.(Tyr32690Cys) NC_000002.12:178533622:T:C p.(Tyr32690Cys) NC_000002.12:178533622:T:C Identity +LRG_369t1:c.1973G>A LRG_369p1:p.Arg658His NC_000002.12:166281776:C:T ERR:Data provider error: ValueError: Transcript LRG_369t1 not found ERR:Data provider error: ValueError: Transcript LRG_369t1 not found ERR:AlignmentMapper(tx_ac=LRG_369t1, alt_ac=LRG_369t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_369t1, alt_ac=LRG_369t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_369t1 not found +NM_001365536.1:c.5403A>T NP_001352465.1:p.Lys1801Asn NC_000002.12:166199235:T:A p.(Lys1801Asn) NC_000002.12:166199235:T:A p.(Lys1801Asn) NC_000002.12:166199235:T:A Identity +NM_001130455.2:c.4856A>G NP_001123927.1:p.Tyr1619Cys NC_000002.12:71660617:A:G p.(Tyr1619Cys) NC_000002.12:71660617:A:G p.(Tyr1619Cys) NC_000002.12:71660617:A:G Identity +NM_001256850.1:c.12559C>A NP_001243779.1:p.Gln4187Lys NC_000002.12:178739722:G:T p.(Gln4187Lys) NC_000002.12:178739722:G:T p.(Gln4187Lys) NC_000002.12:178739722:G:T Identity +NM_001256850.1:c.12870G>T NP_001243779.1:p.Met4290Ile NC_000002.12:178739411:C:A p.(Met4290Ile) NC_000002.12:178739411:C:A p.(Met4290Ile) NC_000002.12:178739411:C:A Identity +NM_001256850.1:c.24021C>A NP_001243779.1:p.Asn8007Lys NC_000002.12:178718033:G:T p.(Asn8007Lys) NC_000002.12:178718033:G:T p.(Asn8007Lys) NC_000002.12:178718033:G:T Identity +NM_024513.4:c.4265C>T NP_078789.2:p.Thr1422Met NC_000003.12:45923751:G:A p.(Thr1422Met) NC_000003.12:45923751:G:A p.(Thr1422Met) NC_000003.12:45923751:G:A Identity +NM_001033855.3:c.1902_1903del NP_001029027.1:p.Ser635fs NC_000010.11:14908583:TTTTTT:TTTT p.(Ser635PhefsTer5) NC_000010.11:14908583:TTTTTT:TTTT p.(Ser635PhefsTer5) NC_000010.11:14908583:TT: Analogous +NM_001379352.1:c.305C>T NP_001366281.1:p.Ala102Val NC_000001.11:146019526:G:A p.(Ala102Val) NC_000001.11:146019526:G:A p.(Ala102Val) NC_000001.11:146019526:G:A Identity +NM_001256442.2:c.364C>A NP_001243371.1:p.Gln122Lys NC_000016.10:29813417:C:A p.(Gln122Lys) NC_000016.10:29813417:C:A p.(Gln122Lys) NC_000016.10:29813417:C:A Identity +NM_001177428.1:c.1034G>C NP_001170899.1:p.Arg345Pro NC_000012.12:109796681:C:G p.(Arg345Pro) NC_000012.12:109796681:C:G p.(Arg345Pro) NC_000012.12:109796681:C:G Identity +NM_001256849.1:c.1505A>G NP_001243778.1:p.Asp502Gly NC_000019.10:50406992:A:G p.(Asp502Gly) NC_000019.10:50406992:A:G p.(Asp502Gly) NC_000019.10:50406992:A:G Identity +NM_001256849.1:c.269A>G NP_001243778.1:p.Gln90Arg NC_000019.10:50399436:A:G p.(Gln90Arg) NC_000019.10:50399436:A:G p.(Gln90Arg) NC_000019.10:50399436:A:G Identity +NM_001144881.2:c.139del NP_001138353.1:p.Leu47fs NC_000012.12:42470352:G: p.(Leu47SerfsTer43) NC_000012.12:42470352:G: p.(Leu47SerfsTer43) NC_000012.12:42470352:G: Analogous +NM_001128225.3:c.635G>A NP_001121697.2:p.Arg212Gln NC_000011.10:47413496:G:A p.(Arg212Gln) NC_000011.10:47413496:G:A p.(Arg212Gln) NC_000011.10:47413496:G:A Identity +NM_000038.6:c.2731G>C NP_000029.2:p.Glu911Gln NC_000005.10:112838324:G:C p.(Glu911Gln) NC_000005.10:112838324:G:C p.(Glu911Gln) NC_000005.10:112838324:G:C Identity +NM_001256850.1:c.52636G>A NP_001243779.1:p.Val17546Ile NC_000002.12:178595794:C:T p.(Val17546Ile) NC_000002.12:178595794:C:T p.(Val17546Ile) NC_000002.12:178595794:C:T Identity +NM_012293.3:c.2827C>T NP_036425.1:p.Arg943Trp NC_000002.12:1648952:G:A p.(Arg943Trp) NC_000002.12:1648952:G:A p.(Arg943Trp) NC_000002.12:1648952:G:A Identity +NM_001127487.2:c.1576C>T NP_001120959.1:p.Arg526Trp NC_000007.14:128840573:C:T p.(Arg526Trp) NC_000007.14:128840573:C:T p.(Arg526Trp) NC_000007.14:128840573:C:T Identity +NM_001127487.2:c.6889G>A NP_001120959.1:p.Gly2297Ser NC_000007.14:128854672:G:A p.(Gly2297Ser) NC_000007.14:128854672:G:A p.(Gly2297Ser) NC_000007.14:128854672:G:A Identity +NM_001256850.1:c.61705C>A NP_001243779.1:p.Gln20569Lys NC_000002.12:178581639:G:T p.(Gln20569Lys) NC_000002.12:178581639:G:T p.(Gln20569Lys) NC_000002.12:178581639:G:T Identity +NM_001243776.2:c.898C>T NP_001230705.1:p.Leu300Phe NC_000011.10:95827824:C:T p.(Leu300Phe) NC_000011.10:95827824:C:T p.(Leu300Phe) NC_000011.10:95827824:C:T Identity +NM_001294332.2:c.896T>C NP_001281261.1:p.Met299Thr NC_000005.10:233620:T:C p.(Met299Thr) NC_000005.10:233620:T:C p.(Met299Thr) NC_000005.10:233620:T:C Identity +NM_001294332.2:c.1039G>T NP_001281261.1:p.Val347Phe NC_000005.10:235261:G:T p.(Val347Phe) NC_000005.10:235261:G:T p.(Val347Phe) NC_000005.10:235261:G:T Identity +NM_000038.6:c.4201A>G NP_000029.2:p.Ile1401Val NC_000005.10:112839794:A:G p.(Ile1401Val) NC_000005.10:112839794:A:G p.(Ile1401Val) NC_000005.10:112839794:A:G Identity +NM_000038.6:c.6898_6900del NP_000029.2:p.Ser2300del NC_000005.10:112842489:CTTCT:CT p.(Ser2300del) NC_000005.10:112842489:CTTCT:CT p.(Ser2300del) NC_000005.10:112842491:TCT: Identity +NM_000038.6:c.7667C>T NP_000029.2:p.Ser2556Leu NC_000005.10:112843260:C:T p.(Ser2556Leu) NC_000005.10:112843260:C:T p.(Ser2556Leu) NC_000005.10:112843260:C:T Identity +NM_001128844.3:c.2777A>G NP_001122316.1:p.Asn926Ser NC_000019.10:11021884:A:G p.(Asn926Ser) NC_000019.10:11021884:A:G p.(Asn926Ser) NC_000019.10:11021884:A:G Identity +NM_001128844.3:c.2858A>G NP_001122316.1:p.Lys953Arg NC_000019.10:11021965:A:G p.(Lys953Arg) NC_000019.10:11021965:A:G p.(Lys953Arg) NC_000019.10:11021965:A:G Identity +NM_001256850.1:c.7618C>T NP_001243779.1:p.Arg2540Cys NC_000002.12:178773345:G:A p.(Arg2540Cys) NC_000002.12:178773345:G:A p.(Arg2540Cys) NC_000002.12:178773345:G:A Identity +NM_001256850.1:c.89257C>T NP_001243779.1:p.Pro29753Ser NC_000002.12:178547445:G:A p.(Pro29753Ser) NC_000002.12:178547445:G:A p.(Pro29753Ser) NC_000002.12:178547445:G:A Identity +NM_000548.5:c.4250G>A NP_000539.2:p.Arg1417Gln NC_000016.10:2084471:G:A p.(Arg1417Gln) NC_000016.10:2084471:G:A p.(Arg1417Gln) NC_000016.10:2084471:G:A Identity +NM_003000.3:c.685_686insCGCTTCACAGAGG NP_002991.2:p.Glu229fs NC_000001.11:17022687:CCTCTGTGAAG:CCTCTGTGAAGCGCCTCTGTGAAG p.(Glu229AlafsTer31) NC_000001.11:17022686:T:CCTCTGTGAAGCG p.(Glu229AlafsTer31) NC_000001.11:17022687:TC:CCTCTGTGAAGCG Analogous +NM_024513.4:c.1439C>T NP_078789.2:p.Thr480Met NC_000003.12:45967894:G:A p.(Thr480Met) NC_000003.12:45967894:G:A p.(Thr480Met) NC_000003.12:45967894:G:A Identity +NM_001256849.1:c.1360C>T NP_001243778.1:p.Arg454Cys NC_000019.10:50406298:C:T p.(Arg454Cys) NC_000019.10:50406298:C:T p.(Arg454Cys) NC_000019.10:50406298:C:T Identity +NM_001256849.1:c.1640T>C NP_001243778.1:p.Leu547Pro NC_000019.10:50407127:T:C p.(Leu547Pro) NC_000019.10:50407127:T:C p.(Leu547Pro) NC_000019.10:50407127:T:C Identity +NM_001353765.2:c.25G>A NP_001340694.1:p.Glu9Lys NC_000002.12:29223471:C:T p.(Glu9Lys) NC_000002.12:29223471:C:T p.(Glu9Lys) NC_000002.12:29223471:C:T Identity +NM_001256545.2:c.743A>G NP_001243474.1:p.His248Arg NC_000005.10:127398758:A:G p.(His248Arg) NC_000005.10:127398758:A:G p.(His248Arg) NC_000005.10:127398758:A:G Identity +NM_001350626.2:c.1198C>G NP_001337555.1:p.Leu400Val NC_000007.14:2541420:G:C p.(Leu400Val) NC_000007.14:2541420:G:C p.(Leu400Val) NC_000007.14:2541420:G:C Identity +NM_030777.4:c.648C>G NP_110404.1:p.Tyr216Ter NC_000020.11:46725683:C:G p.(Tyr216Ter) NC_000020.11:46725683:C:G p.(Tyr216Ter) NC_000020.11:46725683:C:G Identity +NM_000548.5:c.1730C>T NP_000539.2:p.Thr577Ile NC_000016.10:2070468:C:T p.(Thr577Ile) NC_000016.10:2070468:C:T p.(Thr577Ile) NC_000016.10:2070468:C:T Identity +NM_001365536.1:c.4055A>C NP_001352465.1:p.Asn1352Thr NC_000002.12:166228841:T:G p.(Asn1352Thr) NC_000002.12:166228841:T:G p.(Asn1352Thr) NC_000002.12:166228841:T:G Identity +NM_001184985.2:c.5254G>A NP_001171914.1:p.Val1752Ile NC_000012.12:885277:G:A p.(Val1752Ile) NC_000012.12:885277:G:A p.(Val1752Ile) NC_000012.12:885277:G:A Identity +NM_000038.6:c.1002G>C NP_000029.2:p.Leu334Phe NC_000005.10:112819033:G:C p.(Leu334Phe) NC_000005.10:112819033:G:C p.(Leu334Phe) NC_000005.10:112819033:G:C Identity +NM_000548.5:c.925C>T NP_000539.2:p.Leu309Phe NC_000016.10:2058822:C:T p.(Leu309Phe) NC_000016.10:2058822:C:T p.(Leu309Phe) NC_000016.10:2058822:C:T Identity +NM_014141.6:c.3480_3481del NP_054860.1:p.Gly1161fs NC_000007.14:148383652:AG: p.(Gly1161GlufsTer3) NC_000007.14:148383652:AG: p.(Gly1161GlufsTer3) NC_000007.14:148383652:AG: Analogous +NM_005159.5:c.501C>G NP_005150.1:p.Ile167Met NC_000015.10:34792522:G:C p.(Ile167Met) NC_000015.10:34792522:G:C p.(Ile167Met) NC_000015.10:34792522:G:C Identity +NM_000445.5:c.4580G>A NP_000436.2:p.Arg1527Gln NC_000008.11:143925429:C:T p.(Arg1527Gln) NC_000008.11:143925429:C:T p.(Arg1527Gln) NC_000008.11:143925429:C:T Identity +NM_021922.3:c.274C>T NP_068741.1:p.Arg92Trp NC_000006.12:35455771:C:T p.(Arg92Trp) NC_000006.12:35455771:C:T p.(Arg92Trp) NC_000006.12:35455771:C:T Identity +NM_001127487.2:c.1445G>A NP_001120959.1:p.Arg482Gln NC_000007.14:128840055:G:A p.(Arg482Gln) NC_000007.14:128840055:G:A p.(Arg482Gln) NC_000007.14:128840055:G:A Identity +NM_001127487.2:c.3022C>T NP_001120959.1:p.Arg1008Cys NC_000007.14:128844095:C:T p.(Arg1008Cys) NC_000007.14:128844095:C:T p.(Arg1008Cys) NC_000007.14:128844095:C:T Identity +NM_001243776.2:c.395A>G NP_001230705.1:p.Asn132Ser NC_000011.10:95813506:A:G p.(Asn132Ser) NC_000011.10:95813506:A:G p.(Asn132Ser) NC_000011.10:95813506:A:G Identity +NM_001294332.2:c.850C>T NP_001281261.1:p.Pro284Ser NC_000005.10:233574:C:T p.(Pro284Ser) NC_000005.10:233574:C:T p.(Pro284Ser) NC_000005.10:233574:C:T Identity +NM_000038.6:c.5218C>T NP_000029.2:p.Pro1740Ser NC_000005.10:112840811:C:T p.(Pro1740Ser) NC_000005.10:112840811:C:T p.(Pro1740Ser) NC_000005.10:112840811:C:T Identity +NM_000038.6:c.5341C>T NP_000029.2:p.Gln1781Ter NC_000005.10:112840934:C:T p.(Gln1781Ter) NC_000005.10:112840934:C:T p.(Gln1781Ter) NC_000005.10:112840934:C:T Identity +NM_001363823.2:c.418C>T NP_001350752.1:p.Gln140Ter NC_000002.12:32087496:C:T p.(Gln140Ter) NC_000002.12:32087496:C:T p.(Gln140Ter) NC_000002.12:32087496:C:T Identity +NM_001256213.2:c.943G>A NP_001243142.1:p.Gly315Arg NC_000019.10:41985000:C:T p.(Gly315Arg) NC_000019.10:41985000:C:T p.(Gly315Arg) NC_000019.10:41985000:C:T Identity +NM_001352773.2:c.1714C>T NP_001339702.1:p.Arg572Trp NC_000017.11:41758457:G:A p.(Arg572Trp) NC_000017.11:41758457:G:A p.(Arg572Trp) NC_000017.11:41758457:G:A Identity +NM_000832.7:c.2452A>C NP_000823.4:p.Met818Leu NC_000009.12:137163766:A:C p.(Met818Leu) NC_000009.12:137163766:A:C p.(Met818Leu) NC_000009.12:137163766:A:C Identity +NM_001142571.2:c.20G>A NP_001136043.1:p.Gly7Glu NC_000017.11:35119593:C:T p.(Gly7Glu) NC_000017.11:35119593:C:T p.(Gly7Glu) NC_000017.11:35119593:C:T Identity +NM_004656.4:c.649G>A NP_004647.1:p.Ala217Thr NC_000003.12:52406838:C:T p.(Ala217Thr) NC_000003.12:52406838:C:T p.(Ala217Thr) NC_000003.12:52406838:C:T Identity +NM_006231.4:c.167C>T NP_006222.2:p.Pro56Leu NC_000012.12:132681174:G:A p.(Pro56Leu) NC_000012.12:132681174:G:A p.(Pro56Leu) NC_000012.12:132681174:G:A Identity +NM_006231.4:c.4457A>T NP_006222.2:p.His1486Leu NC_000012.12:132643317:T:A p.(His1486Leu) NC_000012.12:132643317:T:A p.(His1486Leu) NC_000012.12:132643317:T:A Identity +NM_001256849.1:c.1511C>T NP_001243778.1:p.Thr504Ile NC_000019.10:50406998:C:T p.(Thr504Ile) NC_000019.10:50406998:C:T p.(Thr504Ile) NC_000019.10:50406998:C:T Identity +NM_000038.6:c.992C>T NP_000029.2:p.Ser331Leu NC_000005.10:112819023:C:T p.(Ser331Leu) NC_000005.10:112819023:C:T p.(Ser331Leu) NC_000005.10:112819023:C:T Identity +NM_006231.4:c.5407G>A NP_006222.2:p.Val1803Met NC_000012.12:132639269:C:T p.(Val1803Met) NC_000012.12:132639269:C:T p.(Val1803Met) NC_000012.12:132639269:C:T Identity +NM_006231.4:c.5809C>G NP_006222.2:p.Leu1937Val NC_000012.12:132635893:G:C p.(Leu1937Val) NC_000012.12:132635893:G:C p.(Leu1937Val) NC_000012.12:132635893:G:C Identity +NM_000069.3:c.460A>G NP_000060.2:p.Ser154Gly NC_000001.11:201092052:T:C p.(Ser154Gly) NC_000001.11:201092052:T:C p.(Ser154Gly) NC_000001.11:201092052:T:C Identity +NM_001256849.1:c.475G>A NP_001243778.1:p.Glu159Lys NC_000019.10:50402009:G:A p.(Glu159Lys) NC_000019.10:50402009:G:A p.(Glu159Lys) NC_000019.10:50402009:G:A Identity +NM_001128844.3:c.805C>T NP_001122316.1:p.Pro269Ser NC_000019.10:10986948:C:T p.(Pro269Ser) NC_000019.10:10986948:C:T p.(Pro269Ser) NC_000019.10:10986948:C:T Identity +NM_002471.4:c.2486G>A NP_002462.2:p.Trp829Ter NC_000014.9:23394266:C:T p.(Trp829Ter) NC_000014.9:23394266:C:T p.(Trp829Ter) NC_000014.9:23394266:C:T Identity +NM_001134363.3:c.2060A>G NP_001127835.2:p.Glu687Gly NC_000010.11:110812456:A:G p.(Glu687Gly) NC_000010.11:110812456:A:G p.(Glu687Gly) NC_000010.11:110812456:A:G Identity +NM_001271.4:c.3168G>T NP_001262.3:p.Glu1056Asp NC_000015.10:92984430:G:T p.(Glu1056Asp) NC_000015.10:92984430:G:T p.(Glu1056Asp) NC_000015.10:92984430:G:T Identity +NM_000038.6:c.5125A>T NP_000029.2:p.Thr1709Ser NC_000005.10:112840718:A:T p.(Thr1709Ser) NC_000005.10:112840718:A:T p.(Thr1709Ser) NC_000005.10:112840718:A:T Identity +NM_173551.5:c.238A>G NP_775822.3:p.Thr80Ala NC_000009.12:98796253:T:C p.(Thr80Ala) NC_000009.12:98796253:T:C p.(Thr80Ala) NC_000009.12:98796253:T:C Identity +NM_001723.7:c.6923G>A NP_001714.1:p.Arg2308Gln NC_000006.12:56616543:C:T p.(Arg2308Gln) NC_000006.12:56616543:C:T p.(Arg2308Gln) NC_000006.12:56616543:C:T Identity +NM_001723.7:c.7162del NP_001714.1:p.Ser2388fs NC_000006.12:56616304:AA:A p.(Ser2388LeufsTer5) NC_000006.12:56616304:AA:A p.(Ser2388LeufsTer5) NC_000006.12:56616304:A: Analogous +NM_001290020.2:c.2218T>C NP_001276949.1:p.Trp740Arg NC_000010.11:27936759:A:G p.(Trp740Arg) NC_000010.11:27936759:A:G p.(Trp740Arg) NC_000010.11:27936759:A:G Identity +NM_001349253.2:c.465C>A NP_001336182.1:p.Asn155Lys NC_000003.12:38945433:G:T p.(Asn155Lys) NC_000003.12:38945433:G:T p.(Asn155Lys) NC_000003.12:38945433:G:T Identity +NM_033071.5:c.4295A>T NP_149062.2:p.Glu1432Val NC_000006.12:152435976:T:A p.(Glu1432Val) NC_000006.12:152435976:T:A p.(Glu1432Val) NC_000006.12:152435976:T:A Identity +NM_000038.6:c.7582A>G NP_000029.2:p.Ile2528Val NC_000005.10:112843175:A:G p.(Ile2528Val) NC_000005.10:112843175:A:G p.(Ile2528Val) NC_000005.10:112843175:A:G Identity +NM_001304418.3:c.788T>C NP_001291347.1:p.Ile263Thr NC_000003.12:69119566:A:G p.(Ile263Thr) NC_000003.12:69119566:A:G p.(Ile263Thr) NC_000003.12:69119566:A:G Identity +NM_001142298.2:c.16G>A NP_001135770.1:p.Val6Met NC_000005.10:179823019:G:A p.(Val6Met) NC_000005.10:179823019:G:A p.(Val6Met) NC_000005.10:179823019:G:A Identity +NM_001349370.3:c.2167A>G NP_001336299.1:p.Thr723Ala NC_000003.12:47122336:T:C p.(Thr723Ala) NC_000003.12:47122336:T:C p.(Thr723Ala) NC_000003.12:47122336:T:C Identity +NM_014159.7:c.26C>T NP_054878.5:p.Pro9Leu NC_000003.12:47163898:G:A p.(Pro9Leu) NC_000003.12:47163898:G:A p.(Pro9Leu) NC_000003.12:47163898:G:A Identity +NM_001352253.3:c.122C>T NP_001339182.1:p.Ala41Val NC_000013.11:110705971:G:A p.(Ala41Val) NC_000013.11:110705971:G:A p.(Ala41Val) NC_000013.11:110705971:G:A Identity +NM_001352252.2:c.703G>A NP_001339181.1:p.Val235Ile NC_000013.11:110642448:C:T p.(Val235Ile) NC_000013.11:110642448:C:T p.(Val235Ile) NC_000013.11:110642448:C:T Identity +NM_001352253.3:c.64G>A NP_001339182.1:p.Gly22Arg NC_000013.11:110706029:C:T p.(Gly22Arg) NC_000013.11:110706029:C:T p.(Gly22Arg) NC_000013.11:110706029:C:T Identity +NM_001099403.2:c.1466G>A NP_001092873.1:p.Gly489Asp NC_000004.12:80202927:G:A p.(Gly489Asp) NC_000004.12:80202927:G:A p.(Gly489Asp) NC_000004.12:80202927:G:A Identity +NM_001365536.1:c.3482G>A NP_001352465.1:p.Trp1161Ter NC_000002.12:166242646:C:T p.(Trp1161Ter) NC_000002.12:166242646:C:T p.(Trp1161Ter) NC_000002.12:166242646:C:T Identity +NM_001319218.2:c.47C>T NP_001306147.1:p.Pro16Leu NC_000001.11:18902476:G:A p.(Pro16Leu) NC_000001.11:18902476:G:A p.(Pro16Leu) NC_000001.11:18902476:G:A Identity +NM_001317799.2:c.80G>C NP_001304728.1:p.Cys27Ser NC_000004.12:122923221:G:C p.(Cys27Ser) NC_000004.12:122923221:G:C p.(Cys27Ser) NC_000004.12:122923221:G:C Identity +NM_001346418.1:c.824G>A NP_001333347.1:p.Arg275Gln NC_000006.12:158982494:C:T p.(Arg275Gln) NC_000006.12:158982494:C:T p.(Arg275Gln) NC_000006.12:158982494:C:T Identity +NM_005045.4:c.5225G>A NP_005036.2:p.Arg1742Gln NC_000007.14:103561938:C:T p.(Arg1742Gln) NC_000007.14:103561938:C:T p.(Arg1742Gln) NC_000007.14:103561938:C:T Identity +NM_003280.3:c.393C>A NP_003271.1:p.Asp131Glu NC_000003.12:52451451:G:T p.(Asp131Glu) NC_000003.12:52451451:G:T p.(Asp131Glu) NC_000003.12:52451451:G:T Identity +NM_004304.5:c.1193A>G NP_004295.2:p.Asn398Ser NC_000002.12:29383820:T:C p.(Asn398Ser) NC_000002.12:29383820:T:C p.(Asn398Ser) NC_000002.12:29383820:T:C Identity +NM_004304.5:c.2263C>A NP_004295.2:p.His755Asn NC_000002.12:29239771:G:T p.(His755Asn) NC_000002.12:29239771:G:T p.(His755Asn) NC_000002.12:29239771:G:T Identity +NM_000445.5:c.2956G>A NP_000436.2:p.Gly986Ser NC_000008.11:143929693:C:T p.(Gly986Ser) NC_000008.11:143929693:C:T p.(Gly986Ser) NC_000008.11:143929693:C:T Identity +NM_001127178.3:c.2207C>T NP_001120650.1:p.Ala736Val NC_000004.12:527175:C:T p.(Ala736Val) NC_000004.12:527175:C:T p.(Ala736Val) NC_000004.12:527175:C:T Identity +LRG_475t1:c.1745C>T LRG_475p1:p.Pro582Leu NC_000021.9:45999660:C:T ERR:Data provider error: ValueError: Transcript LRG_475t1 not found ERR:Data provider error: ValueError: Transcript LRG_475t1 not found ERR:AlignmentMapper(tx_ac=LRG_475t1, alt_ac=LRG_475t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_475t1, alt_ac=LRG_475t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_475t1 not found +NM_001848.3:c.631C>G NP_001839.2:p.Arg211Gly NC_000021.9:45986985:C:G p.(Arg211Gly) NC_000021.9:45986985:C:G p.(Arg211Gly) NC_000021.9:45986985:C:G Identity +NM_004304.5:c.812C>G NP_004295.2:p.Pro271Arg NC_000002.12:29694989:G:C p.(Pro271Arg) NC_000002.12:29694989:G:C p.(Pro271Arg) NC_000002.12:29694989:G:C Identity +NM_033071.5:c.9809C>T NP_149062.2:p.Ala3270Val NC_000006.12:152368990:G:A p.(Ala3270Val) NC_000006.12:152368990:G:A p.(Ala3270Val) NC_000006.12:152368990:G:A Identity +NM_001283009.2:c.1183A>G NP_001269938.1:p.Ile395Val NC_000020.11:63680710:A:G p.(Ile395Val) NC_000020.11:63680710:A:G p.(Ile395Val) NC_000020.11:63680710:A:G Identity +NM_004369.4:c.5752C>A NP_004360.2:p.Arg1918Ser NC_000002.12:237365783:G:T p.(Arg1918Ser) NC_000002.12:237365783:G:T p.(Arg1918Ser) NC_000002.12:237365783:G:T Identity +NM_003476.5:c.251C>T NP_003467.1:p.Thr84Met NC_000011.10:19188165:G:A p.(Thr84Met) NC_000011.10:19188165:G:A p.(Thr84Met) NC_000011.10:19188165:G:A Identity +NM_004281.4:c.1578G>T NP_004272.2:p.Glu526Asp NC_000010.11:119677131:G:T p.(Glu526Asp) NC_000010.11:119677131:G:T p.(Glu526Asp) NC_000010.11:119677131:G:T Identity +NM_012293.3:c.3593G>A NP_036425.1:p.Arg1198Gln NC_000002.12:1648186:C:T p.(Arg1198Gln) NC_000002.12:1648186:C:T p.(Arg1198Gln) NC_000002.12:1648186:C:T Identity +NM_001127487.2:c.1589A>T NP_001120959.1:p.Asp530Val NC_000007.14:128840586:A:T p.(Asp530Val) NC_000007.14:128840586:A:T p.(Asp530Val) NC_000007.14:128840586:A:T Identity +NM_001145293.2:c.1415C>T NP_001138765.1:p.Ser472Phe NC_000003.12:25729274:G:A p.(Ser472Phe) NC_000003.12:25729274:G:A p.(Ser472Phe) NC_000003.12:25729274:G:A Identity +NM_001927.4:c.1219A>C NP_001918.3:p.Lys407Gln NC_000002.12:219421534:A:C p.(Lys407Gln) NC_000002.12:219421534:A:C p.(Lys407Gln) NC_000002.12:219421534:A:C Identity +NM_152393.4:c.1477C>G NP_689606.2:p.Leu493Val NC_000003.12:42688923:C:G p.(Leu493Val) NC_000003.12:42688923:C:G p.(Leu493Val) NC_000003.12:42688923:C:G Identity +NM_033124.5:c.347C>T NP_149115.2:p.Ala116Val NC_000012.12:48914449:C:T p.(Ala116Val) NC_000012.12:48914449:C:T p.(Ala116Val) NC_000012.12:48914449:C:T Identity +NM_001031804.3:c.715G>A NP_001026974.1:p.Ala239Thr NC_000016.10:79599187:C:T p.(Ala239Thr) NC_000016.10:79599187:C:T p.(Ala239Thr) NC_000016.10:79599187:C:T Identity +NM_001143838.3:c.1037G>T NP_001137310.1:p.Trp346Leu NC_000017.11:6695743:C:A p.(Trp346Leu) NC_000017.11:6695743:C:A p.(Trp346Leu) NC_000017.11:6695743:C:A Identity +NM_001304418.3:c.426A>C NP_001291347.1:p.Glu142Asp NC_000003.12:69119928:T:G p.(Glu142Asp) NC_000003.12:69119928:T:G p.(Glu142Asp) NC_000003.12:69119928:T:G Identity +NM_004370.6:c.7990A>G NP_004361.3:p.Ile2664Val NC_000006.12:75109127:T:C p.(Ile2664Val) NC_000006.12:75109127:T:C p.(Ile2664Val) NC_000006.12:75109127:T:C Identity +NM_005045.4:c.2992C>G NP_005036.2:p.Leu998Val NC_000007.14:103610710:G:C p.(Leu998Val) NC_000007.14:103610710:G:C p.(Leu998Val) NC_000007.14:103610710:G:C Identity +NM_001195573.1:c.3447G>C NP_001182502.1:p.Met1149Ile NC_000014.9:95103948:C:G p.(Met1149Ile) NC_000014.9:95103948:C:G p.(Met1149Ile) NC_000014.9:95103948:C:G Identity +NM_001195573.1:c.3653C>G NP_001182502.1:p.Ser1218Cys NC_000014.9:95103742:G:C p.(Ser1218Cys) NC_000014.9:95103742:G:C p.(Ser1218Cys) NC_000014.9:95103742:G:C Identity +NM_001195573.1:c.4423A>G NP_001182502.1:p.Thr1475Ala NC_000014.9:95096496:T:C p.(Thr1475Ala) NC_000014.9:95096496:T:C p.(Thr1475Ala) NC_000014.9:95096496:T:C Identity +NM_001271282.3:c.5762A>G NP_001258211.1:p.Asn1921Ser NC_000014.9:95090504:T:C p.(Asn1921Ser) NC_000014.9:95090504:T:C p.(Asn1921Ser) NC_000014.9:95090504:T:C Identity +NM_000426.4:c.4649C>T NP_000417.3:p.Pro1550Leu NC_000006.12:129353288:C:T p.(Pro1550Leu) NC_000006.12:129353288:C:T p.(Pro1550Leu) NC_000006.12:129353288:C:T Identity +NM_000426.4:c.7710_7711insG NP_000417.3:p.Pro2571fs NC_000006.12:129481400::G p.(Pro2571AlafsTer5) NC_000006.12:129481399:A:G p.(Pro2571AlafsTer5) NC_000006.12:129481400:AC:G Analogous +NM_001267578.2:c.274T>A NP_001254507.1:p.Ser92Thr NC_000001.11:179882775:T:A p.(Ser92Thr) NC_000001.11:179882775:T:A p.(Ser92Thr) NC_000001.11:179882775:T:A Identity +NM_001127178.3:c.1862C>T NP_001120650.1:p.Ala621Val NC_000004.12:523705:C:T p.(Ala621Val) NC_000004.12:523705:C:T p.(Ala621Val) NC_000004.12:523705:C:T Identity +NM_004369.4:c.1061G>A NP_004360.2:p.Ser354Asn NC_000002.12:237387832:C:T p.(Ser354Asn) NC_000002.12:237387832:C:T p.(Ser354Asn) NC_000002.12:237387832:C:T Identity +NM_000378.6:c.133T>C NP_000369.4:p.Trp45Arg NC_000011.10:32435227:A:G p.(Trp45Arg) NC_000011.10:32435227:A:G p.(Trp45Arg) NC_000011.10:32435227:A:G Identity +NM_001316772.1:c.538G>A NP_001303701.1:p.Glu180Lys NC_000007.14:30603536:G:A p.(Glu180Lys) NC_000007.14:30603536:G:A p.(Glu180Lys) NC_000007.14:30603536:G:A Identity +NM_014845.6:c.14C>T NP_055660.1:p.Ala5Val NC_000006.12:109691448:C:T p.(Ala5Val) NC_000006.12:109691448:C:T p.(Ala5Val) NC_000006.12:109691448:C:T Identity +NM_001195573.1:c.3462A>C NP_001182502.1:p.Arg1154Ser NC_000014.9:95103933:T:G p.(Arg1154Ser) NC_000014.9:95103933:T:G p.(Arg1154Ser) NC_000014.9:95103933:T:G Identity +NM_001195573.1:c.3635A>C NP_001182502.1:p.Gln1212Pro NC_000014.9:95103760:T:G p.(Gln1212Pro) NC_000014.9:95103760:T:G p.(Gln1212Pro) NC_000014.9:95103760:T:G Identity +NM_001195573.1:c.77C>T NP_001182502.1:p.Pro26Leu NC_000014.9:95133381:G:A p.(Pro26Leu) NC_000014.9:95133381:G:A p.(Pro26Leu) NC_000014.9:95133381:G:A Identity +NM_000323.2:c.2482G>C NP_000314.1:p.Gly828Arg NC_000010.11:43119619:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.566G>A NP_000314.1:p.Arg189His NC_000010.11:43102569:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001256267.2:c.2926G>T NP_001243196.1:p.Val976Phe NC_000010.11:68194362:G:T p.(Val976Phe) NC_000010.11:68194362:G:T p.(Val976Phe) NC_000010.11:68194362:G:T Identity +NM_001272073.2:c.1493G>A NP_001259002.1:p.Arg498Gln NC_000003.12:49099509:C:T p.(Arg498Gln) NC_000003.12:49099509:C:T p.(Arg498Gln) NC_000003.12:49099509:C:T Identity +NM_015164.4:c.1085G>A NP_055979.2:p.Arg362Gln NC_000001.11:15727156:G:A p.(Arg362Gln) NC_000001.11:15727156:G:A p.(Arg362Gln) NC_000001.11:15727156:G:A Identity +NM_001184985.2:c.4639G>T NP_001171914.1:p.Ala1547Ser NC_000012.12:884662:G:T p.(Ala1547Ser) NC_000012.12:884662:G:T p.(Ala1547Ser) NC_000012.12:884662:G:T Identity +NM_006516.4:c.281A>G NP_006507.2:p.Asn94Ser NC_000001.11:42930860:T:C p.(Asn94Ser) NC_000001.11:42930860:T:C p.(Asn94Ser) NC_000001.11:42930860:T:C Identity +NM_058216.3:c.535del NP_478123.1:p.His179fs NC_000017.11:58696822:C: p.(His179ThrfsTer5) NC_000017.11:58696822:C: p.(His179ThrfsTer5) NC_000017.11:58696822:C: Analogous +NM_001006657.2:c.725A>G NP_001006658.1:p.Glu242Gly NC_000002.12:19974478:T:C p.(Glu242Gly) NC_000002.12:19974478:T:C p.(Glu242Gly) NC_000002.12:19974478:T:C Identity +NM_001321309.2:c.3256A>G NP_001308238.1:p.Thr1086Ala NC_000003.12:123666265:T:C p.(Thr1086Ala) NC_000003.12:123666265:T:C p.(Thr1086Ala) NC_000003.12:123666265:T:C Identity +NM_015512.5:c.1172A>G NP_056327.4:p.Tyr391Cys NC_000003.12:52332279:A:G p.(Tyr391Cys) NC_000003.12:52332279:A:G p.(Tyr391Cys) NC_000003.12:52332279:A:G Identity +NM_000059.4:c.7472A>G NP_000050.3:p.Gln2491Arg NC_000013.11:32356463:A:G p.(Gln2491Arg) NC_000013.11:32356463:A:G p.(Gln2491Arg) NC_000013.11:32356463:A:G Identity +NM_000059.4:c.6121T>C NP_000050.3:p.Ser2041Pro NC_000013.11:32340475:T:C p.(Ser2041Pro) NC_000013.11:32340475:T:C p.(Ser2041Pro) NC_000013.11:32340475:T:C Identity +NM_001294332.2:c.1741dup NP_001281261.1:p.Tyr581fs NC_000005.10:254482:T:TT p.(Tyr581LeufsTer14) NC_000005.10:254482:T:TT p.(Tyr581LeufsTer14) ERR:SPDI Analogous +NM_001294332.2:c.418C>T NP_001281261.1:p.Arg140Trp NC_000005.10:225987:C:T p.(Arg140Trp) NC_000005.10:225987:C:T p.(Arg140Trp) NC_000005.10:225987:C:T Identity +NM_001294332.2:c.1312C>T NP_001281261.1:p.Pro438Ser NC_000005.10:240380:C:T p.(Pro438Ser) NC_000005.10:240380:C:T p.(Pro438Ser) NC_000005.10:240380:C:T Identity +NM_001294332.2:c.188A>T NP_001281261.1:p.Asp63Val NC_000005.10:224396:A:T p.(Asp63Val) NC_000005.10:224396:A:T p.(Asp63Val) NC_000005.10:224396:A:T Identity +NM_032043.3:c.305A>G NP_114432.2:p.Gln102Arg NC_000017.11:61857131:T:C p.(Gln102Arg) NC_000017.11:61857131:T:C p.(Gln102Arg) NC_000017.11:61857131:T:C Identity +NM_032043.3:c.917dup NP_114432.2:p.Asn306fs NC_000017.11:61808467:TTTTT:TTTTTT p.(Asn306LysfsTer13) NC_000017.11:61808467:TTTTT:TTTTTT p.(Asn306LysfsTer13) ERR:SPDI Analogous +NM_001195573.1:c.74G>A NP_001182502.1:p.Gly25Asp NC_000014.9:95133384:C:T p.(Gly25Asp) NC_000014.9:95133384:C:T p.(Gly25Asp) NC_000014.9:95133384:C:T Identity +NM_001130916.3:c.473C>T NP_001124388.1:p.Ser158Phe NC_000009.12:99137987:C:T p.(Ser158Phe) NC_000009.12:99137987:C:T p.(Ser158Phe) NC_000009.12:99137987:C:T Identity +NM_005188.4:c.2338C>T NP_005179.2:p.Pro780Ser NC_000011.10:119298443:C:T p.(Pro780Ser) NC_000011.10:119298443:C:T p.(Pro780Ser) NC_000011.10:119298443:C:T Identity +NM_000249.4:c.370T>C NP_000240.1:p.Cys124Arg NC_000003.12:37004463:T:C p.(Cys124Arg) NC_000003.12:37004463:T:C p.(Cys124Arg) NC_000003.12:37004463:T:C Identity +NM_002485.5:c.75dup NP_002476.2:p.Val26fs NC_000008.11:89982817:AA:AAA p.(Val26CysfsTer11) NC_000008.11:89982817:AA:AAA p.(Val26CysfsTer11) ERR:SPDI Analogous +NM_005732.4:c.3599G>A NP_005723.2:p.Arg1200Gln NC_000005.10:132638203:G:A p.(Arg1200Gln) NC_000005.10:132638203:G:A p.(Arg1200Gln) NC_000005.10:132638203:G:A Identity +NM_058216.3:c.962A>G NP_478123.1:p.Gln321Arg NC_000017.11:58724096:A:G p.(Gln321Arg) NC_000017.11:58724096:A:G p.(Gln321Arg) NC_000017.11:58724096:A:G Identity +NM_058216.3:c.851A>C NP_478123.1:p.Asn284Thr NC_000017.11:58720758:A:C p.(Asn284Thr) NC_000017.11:58720758:A:C p.(Asn284Thr) NC_000017.11:58720758:A:C Identity +NM_000546.6:c.673G>A NP_000537.3:p.Val225Ile NC_000017.11:7674289:C:T p.(Val225Ile) NC_000017.11:7674289:C:T p.(Val225Ile) NC_000017.11:7674289:C:T Identity +NM_001276503.2:c.88C>T NP_001263432.1:p.His30Tyr NC_000011.10:112087891:C:T p.(His30Tyr) NC_000011.10:112087891:C:T p.(His30Tyr) NC_000011.10:112087891:C:T Identity +NM_001258040.3:c.1325C>T NP_001244969.1:p.Thr442Met NC_000005.10:140674691:G:A p.(Thr442Met) NC_000005.10:140674691:G:A p.(Thr442Met) NC_000005.10:140674691:G:A Identity +NM_001256545.2:c.2704G>A NP_001243474.1:p.Val902Ile NC_000005.10:127445668:G:A p.(Val902Ile) NC_000005.10:127445668:G:A p.(Val902Ile) NC_000005.10:127445668:G:A Identity +NM_002469.3:c.184G>A NP_002460.1:p.Val62Ile NC_000012.12:80707902:G:A p.(Val62Ile) NC_000012.12:80707902:G:A p.(Val62Ile) NC_000012.12:80707902:G:A Identity +NM_001258040.3:c.1003C>T NP_001244969.1:p.Arg335Cys NC_000005.10:140676724:G:A p.(Arg335Cys) NC_000005.10:140676724:G:A p.(Arg335Cys) NC_000005.10:140676724:G:A Identity +NM_001291997.2:c.655C>T NP_001278926.1:p.His219Tyr NC_000016.10:78432689:C:T p.(His219Tyr) NC_000016.10:78432689:C:T p.(His219Tyr) NC_000016.10:78432689:C:T Identity +NM_001201484.2:c.946G>A NP_001188413.1:p.Glu316Lys NC_000009.12:35093202:C:T p.(Glu316Lys) NC_000009.12:35093202:C:T p.(Glu316Lys) NC_000009.12:35093202:C:T Identity +NM_001272003.2:c.3163G>A NP_001258932.1:p.Ala1055Thr NC_000009.12:135786316:G:A p.(Ala1055Thr) NC_000009.12:135786316:G:A p.(Ala1055Thr) NC_000009.12:135786316:G:A Identity +NM_006231.4:c.202C>A NP_006222.2:p.Pro68Thr NC_000012.12:132681139:G:T p.(Pro68Thr) NC_000012.12:132681139:G:T p.(Pro68Thr) NC_000012.12:132681139:G:T Identity +NM_006231.4:c.4217T>C NP_006222.2:p.Met1406Thr NC_000012.12:132643909:A:G p.(Met1406Thr) NC_000012.12:132643909:A:G p.(Met1406Thr) NC_000012.12:132643909:A:G Identity +NM_006231.4:c.895A>G NP_006222.2:p.Met299Val NC_000012.12:132676559:T:C p.(Met299Val) NC_000012.12:132676559:T:C p.(Met299Val) NC_000012.12:132676559:T:C Identity +NM_001031737.3:c.754_755inv NP_001026907.2:p.Trp252Gln NC_000016.10:724690:CA:TG p.(Trp252Gln) NC_000016.10:724690:CA:TG p.(Trp252Gln) ERR:SPDI Identity +NM_006231.4:c.1741G>A NP_006222.2:p.Ala581Thr NC_000012.12:132672267:C:T p.(Ala581Thr) NC_000012.12:132672267:C:T p.(Ala581Thr) NC_000012.12:132672267:C:T Identity +NM_006231.4:c.1958C>T NP_006222.2:p.Ala653Val NC_000012.12:132668702:G:A p.(Ala653Val) NC_000012.12:132668702:G:A p.(Ala653Val) NC_000012.12:132668702:G:A Identity +NM_006231.4:c.2362G>A NP_006222.2:p.Ala788Thr NC_000012.12:132665407:C:T p.(Ala788Thr) NC_000012.12:132665407:C:T p.(Ala788Thr) NC_000012.12:132665407:C:T Identity +NM_006231.4:c.3865C>T NP_006222.2:p.Arg1289Cys NC_000012.12:132649445:G:A p.(Arg1289Cys) NC_000012.12:132649445:G:A p.(Arg1289Cys) NC_000012.12:132649445:G:A Identity +NM_006231.4:c.4015A>G NP_006222.2:p.Thr1339Ala NC_000012.12:132649062:T:C p.(Thr1339Ala) NC_000012.12:132649062:T:C p.(Thr1339Ala) NC_000012.12:132649062:T:C Identity +NM_006231.4:c.4744C>T NP_006222.2:p.Pro1582Ser NC_000012.12:132642713:G:A p.(Pro1582Ser) NC_000012.12:132642713:G:A p.(Pro1582Ser) NC_000012.12:132642713:G:A Identity +NM_006231.4:c.4759G>A NP_006222.2:p.Val1587Ile NC_000012.12:132642698:C:T p.(Val1587Ile) NC_000012.12:132642698:C:T p.(Val1587Ile) NC_000012.12:132642698:C:T Identity +NM_000540.3:c.5650G>A NP_000531.2:p.Gly1884Ser NC_000019.10:38489278:G:A p.(Gly1884Ser) NC_000019.10:38489278:G:A p.(Gly1884Ser) NC_000019.10:38489278:G:A Identity +NM_001324281.3:c.89G>A NP_001311210.1:p.Arg30Gln NC_000007.14:2947705:C:T p.(Arg30Gln) NC_000007.14:2947705:C:T p.(Arg30Gln) NC_000007.14:2947705:C:T Identity +NM_001271723.2:c.2284C>A NP_001258652.1:p.Gln762Lys NC_000005.10:148438492:C:A p.(Gln762Lys) NC_000005.10:148438492:C:A p.(Gln762Lys) NC_000005.10:148438492:C:A Identity +NM_001003800.2:c.1445C>T NP_001003800.1:p.Thr482Met NC_000009.12:92719199:G:A p.(Thr482Met) NC_000009.12:92719199:G:A p.(Thr482Met) NC_000009.12:92719199:G:A Identity +NM_001042572.3:c.1225A>C NP_001036037.1:p.Asn409His NC_000015.10:92946063:A:C p.(Asn409His) NC_000015.10:92946063:A:C p.(Asn409His) NC_000015.10:92946063:A:C Identity +NM_015512.5:c.10895G>A NP_056327.4:p.Arg3632His NC_000003.12:52394985:G:A p.(Arg3632His) NC_000003.12:52394985:G:A p.(Arg3632His) NC_000003.12:52394985:G:A Identity +NM_015512.5:c.5396A>G NP_056327.4:p.Lys1799Arg NC_000003.12:52364896:A:G p.(Lys1799Arg) NC_000003.12:52364896:A:G p.(Lys1799Arg) NC_000003.12:52364896:A:G Identity +NM_002876.4:c.385G>A NP_002867.1:p.Val129Ile NC_000017.11:58695169:G:A p.(Val129Ile) NC_000017.11:58695169:G:A p.(Val129Ile) NC_000017.11:58695169:G:A Identity +NM_000051.4:c.4195A>G NP_000042.3:p.Thr1399Ala NC_000011.10:108289061:A:G p.(Thr1399Ala) NC_000011.10:108289061:A:G p.(Thr1399Ala) NC_000011.10:108289061:A:G Identity +NM_001271723.2:c.1834G>A NP_001258652.1:p.Val612Ile NC_000005.10:148425616:G:A p.(Val612Ile) NC_000005.10:148425616:G:A p.(Val612Ile) NC_000005.10:148425616:G:A Identity +NM_003571.4:c.954G>T NP_003562.1:p.Arg318Ser NC_000003.12:133466889:G:T p.(Arg318Ser) NC_000003.12:133466889:G:T p.(Arg318Ser) NC_000003.12:133466889:G:T Identity +NM_001161748.2:c.420C>A NP_001155220.1:p.Tyr140Ter NC_000019.10:51380544:G:T p.(Tyr140Ter) NC_000019.10:51380544:G:T p.(Tyr140Ter) NC_000019.10:51380544:G:T Identity +NM_001927.4:c.268G>C NP_001918.3:p.Asp90His NC_000002.12:219418729:G:C p.(Asp90His) NC_000002.12:219418729:G:C p.(Asp90His) NC_000002.12:219418729:G:C Identity +NM_002246.3:c.1180G>A NP_002237.1:p.Val394Met NC_000002.12:26728562:G:A p.(Val394Met) NC_000002.12:26728562:G:A p.(Val394Met) NC_000002.12:26728562:G:A Identity +NM_001130067.2:c.41G>A NP_001123539.1:p.Arg14His NC_000004.12:153270425:G:A p.(Arg14His) NC_000004.12:153270425:G:A p.(Arg14His) NC_000004.12:153270425:G:A Identity +NM_001042594.2:c.970A>G NP_001036059.1:p.Ile324Val NC_000007.14:124840978:T:C p.(Ile324Val) NC_000007.14:124840978:T:C p.(Ile324Val) NC_000007.14:124840978:T:C Identity +NM_001042594.2:c.1441G>A NP_001036059.1:p.Val481Ile NC_000007.14:124824032:C:T p.(Val481Ile) NC_000007.14:124824032:C:T p.(Val481Ile) NC_000007.14:124824032:C:T Identity +NM_004975.4:c.1041C>G NP_004966.1:p.Ser347Arg NC_000020.11:49374518:G:C p.(Ser347Arg) NC_000020.11:49374518:G:C p.(Ser347Arg) NC_000020.11:49374518:G:C Identity +NM_001079812.3:c.2976C>G NP_001073280.1:p.Ile992Met NC_000005.10:141528716:G:C p.(Ile992Met) NC_000005.10:141528716:G:C p.(Ile992Met) NC_000005.10:141528716:G:C Identity +NM_015973.5:c.55T>C NP_057057.2:p.Ser19Pro NC_000011.10:68684977:T:C p.(Ser19Pro) NC_000011.10:68684977:T:C p.(Ser19Pro) NC_000011.10:68684977:T:C Identity +NM_005045.4:c.2989C>T NP_005036.2:p.Leu997Phe NC_000007.14:103610713:G:A p.(Leu997Phe) NC_000007.14:103610713:G:A p.(Leu997Phe) NC_000007.14:103610713:G:A Identity +NM_001042594.2:c.763C>A NP_001036059.1:p.His255Asn NC_000007.14:124842813:G:T p.(His255Asn) NC_000007.14:124842813:G:T p.(His255Asn) NC_000007.14:124842813:G:T Identity +NM_001407674.1:c.662A>G NP_001394603.1:p.Gln221Arg NC_000017.11:43094745:T:C p.(Gln221Arg) NC_000017.11:43094745:T:C p.(Gln221Arg) NC_000017.11:43094745:T:C Identity +NM_001352252.2:c.897dup NP_001339181.1:p.Ser300fs NC_000013.11:110641548:TTTTT:TTTTTT p.(Ser300IlefsTer36) NC_000013.11:110641548:TTTTT:TTTTTT p.(Ser300IlefsTer36) ERR:SPDI Analogous +NM_001134771.2:c.920T>G NP_001128243.1:p.Phe307Cys NC_000020.11:46040610:T:G p.(Phe307Cys) NC_000020.11:46040610:T:G p.(Phe307Cys) NC_000020.11:46040610:T:G Identity +NM_001079812.3:c.3648C>T NP_001073280.1:p.Ala1216= NC_000005.10:141516994:G:A p.(Ala1216=) NC_000005.10:141516994:G:A p.(Ala1216=) NC_000005.10:141516994:G:A Identity +NM_001166280.2:c.2281C>A NP_001159752.1:p.Pro761Thr NC_000009.12:110800916:C:A p.(Pro761Thr) NC_000009.12:110800916:C:A p.(Pro761Thr) NC_000009.12:110800916:C:A Identity +NM_001166281.2:c.481C>T NP_001159753.1:p.Leu161Phe NC_000009.12:110695524:C:T p.(Leu161Phe) NC_000009.12:110695524:C:T p.(Leu161Phe) NC_000009.12:110695524:C:T Identity +NM_000742.4:c.772G>A NP_000733.2:p.Ala258Thr NC_000008.11:27463670:C:T p.(Ala258Thr) NC_000008.11:27463670:C:T p.(Ala258Thr) NC_000008.11:27463670:C:T Identity +NM_000748.3:c.1379G>A NP_000739.1:p.Arg460His NC_000001.11:154575801:G:A p.(Arg460His) NC_000001.11:154575801:G:A p.(Arg460His) NC_000001.11:154575801:G:A Identity +NM_001195573.1:c.2002T>G NP_001182502.1:p.Tyr668Asp NC_000014.9:95113129:A:C p.(Tyr668Asp) NC_000014.9:95113129:A:C p.(Tyr668Asp) NC_000014.9:95113129:A:C Identity +NM_001406766.1:c.1024G>A NP_001393695.1:p.Val342Ile NC_000010.11:43111254:G:A p.(Val342Ile) NC_000010.11:43111254:G:A p.(Val342Ile) NC_000010.11:43111254:G:A Identity +NM_001166280.2:c.1744C>T NP_001159752.1:p.Arg582Cys NC_000009.12:110800379:C:T p.(Arg582Cys) NC_000009.12:110800379:C:T p.(Arg582Cys) NC_000009.12:110800379:C:T Identity +NM_004369.4:c.1204G>C NP_004360.2:p.Val402Leu NC_000002.12:237387689:C:G p.(Val402Leu) NC_000002.12:237387689:C:G p.(Val402Leu) NC_000002.12:237387689:C:G Identity +NM_000334.4:c.611C>T NP_000325.4:p.Ala204Val NC_000017.11:63971721:G:A p.(Ala204Val) NC_000017.11:63971721:G:A p.(Ala204Val) NC_000017.11:63971721:G:A Identity +NM_001024847.3:c.1081T>G NP_001020018.1:p.Tyr361Asp NC_000003.12:30672188:T:G p.(Tyr361Asp) NC_000003.12:30672188:T:G p.(Tyr361Asp) NC_000003.12:30672188:T:G Identity +NM_001024847.3:c.586A>G NP_001020018.1:p.Ser196Gly NC_000003.12:30671693:A:G p.(Ser196Gly) NC_000003.12:30671693:A:G p.(Ser196Gly) NC_000003.12:30671693:A:G Identity +NM_181882.3:c.509T>C NP_870998.2:p.Leu170Pro NC_000019.10:40397842:A:G p.(Leu170Pro) NC_000019.10:40397842:A:G p.(Leu170Pro) NC_000019.10:40397842:A:G Identity +NM_001195573.1:c.1818TGA[2] NP_001182502.1:p.Asp609del NC_000014.9:95115747:TCATCATCATC:TCATCATC p.(Asp609del) NC_000014.9:95115755:A:TCATCA ERR:Parse ERR:Parse Identity +NM_001195573.1:c.1960A>G NP_001182502.1:p.Arg654Gly NC_000014.9:95113171:T:C p.(Arg654Gly) NC_000014.9:95113171:T:C p.(Arg654Gly) NC_000014.9:95113171:T:C Identity +NM_001195573.1:c.2099A>G NP_001182502.1:p.Glu700Gly NC_000014.9:95112188:T:C p.(Glu700Gly) NC_000014.9:95112188:T:C p.(Glu700Gly) NC_000014.9:95112188:T:C Identity +NM_001407655.1:c.3949G>T NP_001394584.1:p.Asp1317Tyr NC_000017.11:43091503:C:A p.(Asp1317Tyr) NC_000017.11:43091503:C:A p.(Asp1317Tyr) NC_000017.11:43091503:C:A Identity +NM_001256267.2:c.2917G>C NP_001243196.1:p.Val973Leu NC_000010.11:68189117:G:C p.(Val973Leu) NC_000010.11:68189117:G:C p.(Val973Leu) NC_000010.11:68189117:G:C Identity +NM_001256267.2:c.3805C>T NP_001243196.1:p.His1269Tyr NC_000010.11:68210296:C:T p.(His1269Tyr) NC_000010.11:68210296:C:T p.(His1269Tyr) NC_000010.11:68210296:C:T Identity +NM_001272073.2:c.83C>A NP_001259002.1:p.Ala28Asp NC_000003.12:49104650:G:T p.(Ala28Asp) NC_000003.12:49104650:G:T p.(Ala28Asp) NC_000003.12:49104650:G:T Identity +NM_001370528.1:c.670G>A NP_001357457.1:p.Glu224Lys NC_000003.12:64153298:C:T p.(Glu224Lys) NC_000003.12:64153298:C:T p.(Glu224Lys) NC_000003.12:64153298:C:T Identity +NM_058216.3:c.811A>G NP_478123.1:p.Ser271Gly NC_000017.11:58709963:A:G p.(Ser271Gly) NC_000017.11:58709963:A:G p.(Ser271Gly) NC_000017.11:58709963:A:G Identity +NM_007254.4:c.1223C>A NP_009185.2:p.Thr408Lys NC_000019.10:49861846:G:T p.(Thr408Lys) NC_000019.10:49861846:G:T p.(Thr408Lys) NC_000019.10:49861846:G:T Identity +NM_000384.3:c.13369G>A NP_000375.3:p.Asp4457Asn NC_000002.12:21002052:C:T p.(Asp4457Asn) NC_000002.12:21002052:C:T p.(Asp4457Asn) NC_000002.12:21002052:C:T Identity +NM_000540.3:c.6274C>T NP_000531.2:p.Arg2092Trp NC_000019.10:38492635:C:T p.(Arg2092Trp) NC_000019.10:38492635:C:T p.(Arg2092Trp) NC_000019.10:38492635:C:T Identity +NM_015512.5:c.1759A>C NP_056327.4:p.Asn587His NC_000003.12:52346573:A:C p.(Asn587His) NC_000003.12:52346573:A:C p.(Asn587His) NC_000003.12:52346573:A:C Identity +NM_007254.4:c.906G>C NP_009185.2:p.Lys302Asn NC_000019.10:49862567:C:G p.(Lys302Asn) NC_000019.10:49862567:C:G p.(Lys302Asn) NC_000019.10:49862567:C:G Identity +NM_000051.4:c.949G>T NP_000042.3:p.Asp317Tyr NC_000011.10:108247010:G:T p.(Asp317Tyr) NC_000011.10:108247010:G:T p.(Asp317Tyr) NC_000011.10:108247010:G:T Identity +NM_000051.4:c.563C>G NP_000042.3:p.Ala188Gly NC_000011.10:108244018:C:G p.(Ala188Gly) NC_000011.10:108244018:C:G p.(Ala188Gly) NC_000011.10:108244018:C:G Identity +NM_000465.4:c.899C>T NP_000456.2:p.Pro300Leu NC_000002.12:214780974:G:A p.(Pro300Leu) NC_000002.12:214780974:G:A p.(Pro300Leu) NC_000002.12:214780974:G:A Identity +NM_000465.4:c.1319A>T NP_000456.2:p.Asp440Val NC_000002.12:214769307:T:A p.(Asp440Val) NC_000002.12:214769307:T:A p.(Asp440Val) NC_000002.12:214769307:T:A Identity +NM_000465.4:c.1166G>C NP_000456.2:p.Ser389Thr NC_000002.12:214780707:C:G p.(Ser389Thr) NC_000002.12:214780707:C:G p.(Ser389Thr) NC_000002.12:214780707:C:G Identity +NM_000059.4:c.7237A>G NP_000050.3:p.Lys2413Glu NC_000013.11:32355089:A:G p.(Lys2413Glu) NC_000013.11:32355089:A:G p.(Lys2413Glu) NC_000013.11:32355089:A:G Identity +NM_001317184.2:c.1261G>A NP_001304113.1:p.Glu421Lys NC_000016.10:68815637:G:A p.(Glu421Lys) NC_000016.10:68815637:G:A p.(Glu421Lys) NC_000016.10:68815637:G:A Identity +NM_001330347.2:c.1781G>A NP_001317276.1:p.Arg594Lys NC_000011.10:94447220:C:T p.(Arg594Lys) NC_000011.10:94447220:C:T p.(Arg594Lys) NC_000011.10:94447220:C:T Identity +NM_000179.3:c.353C>A NP_000170.1:p.Thr118Lys NC_000002.12:47791018:C:A p.(Thr118Lys) NC_000002.12:47791018:C:A p.(Thr118Lys) NC_000002.12:47791018:C:A Identity +NM_024675.4:c.1828A>C NP_078951.2:p.Thr610Pro NC_000016.10:23630325:T:G p.(Thr610Pro) NC_000016.10:23630325:T:G p.(Thr610Pro) NC_000016.10:23630325:T:G Identity +NM_001128844.3:c.4884C>G NP_001122316.1:p.Asp1628Glu NC_000019.10:11060159:C:G p.(Asp1628Glu) NC_000019.10:11060159:C:G p.(Asp1628Glu) NC_000019.10:11060159:C:G Identity +NM_000455.5:c.116G>A NP_000446.1:p.Arg39His NC_000019.10:1207028:G:A p.(Arg39His) NC_000019.10:1207028:G:A p.(Arg39His) NC_000019.10:1207028:G:A Identity +NM_000551.4:c.487C>T NP_000542.1:p.Leu163Phe NC_000003.12:10149809:C:T p.(Leu163Phe) NC_000003.12:10149809:C:T p.(Leu163Phe) NC_000003.12:10149809:C:T Identity +NM_000251.3:c.1507C>T NP_000242.1:p.Leu503Phe NC_000002.12:47463150:C:T p.(Leu503Phe) NC_000002.12:47463150:C:T p.(Leu503Phe) NC_000002.12:47463150:C:T Identity +NM_000179.3:c.940A>G NP_000170.1:p.Ser314Gly NC_000002.12:47798922:A:G p.(Ser314Gly) NC_000002.12:47798922:A:G p.(Ser314Gly) NC_000002.12:47798922:A:G Identity +NM_003079.5:c.417C>G NP_003070.3:p.Tyr139Ter NC_000017.11:40636054:G:C p.(Tyr139Ter) NC_000017.11:40636054:G:C p.(Tyr139Ter) NC_000017.11:40636054:G:C Identity +NM_001407748.1:c.5280G>C NP_001394677.1:p.Val1760= NC_000017.11:43047685:C:G p.(Val1760=) NC_000017.11:43047685:C:G p.(Val1760=) NC_000017.11:43047685:C:G Identity +NM_000051.4:c.2561C>G NP_000042.3:p.Ser854Cys NC_000011.10:108267264:C:G p.(Ser854Cys) NC_000011.10:108267264:C:G p.(Ser854Cys) NC_000011.10:108267264:C:G Identity +NM_000051.4:c.1358dup NP_000042.3:p.Tyr454fs NC_000011.10:108250821:CC:CCC p.(Tyr454IlefsTer33) NC_000011.10:108250821:CC:CCC p.(Tyr454IlefsTer33) ERR:SPDI Analogous +NM_000249.4:c.1943C>G NP_000240.1:p.Pro648Arg NC_000003.12:37048562:C:G p.(Pro648Arg) NC_000003.12:37048562:C:G p.(Pro648Arg) NC_000003.12:37048562:C:G Identity +NM_000179.3:c.3187C>G NP_000170.1:p.Leu1063Val NC_000002.12:47803433:C:G p.(Leu1063Val) NC_000002.12:47803433:C:G p.(Leu1063Val) NC_000002.12:47803433:C:G Identity +NM_000179.3:c.2596A>G NP_000170.1:p.Lys866Glu NC_000002.12:47800578:A:G p.(Lys866Glu) NC_000002.12:47800578:A:G p.(Lys866Glu) NC_000002.12:47800578:A:G Identity +NM_001048171.2:c.203T>A NP_001041636.2:p.Phe68Tyr NC_000001.11:45333473:A:T p.(Phe68Tyr) NC_000001.11:45333473:A:T p.(Phe68Tyr) NC_000001.11:45333473:A:T Identity +NM_000059.4:c.7294A>G NP_000050.3:p.Arg2432Gly NC_000013.11:32355146:A:G p.(Arg2432Gly) NC_000013.11:32355146:A:G p.(Arg2432Gly) NC_000013.11:32355146:A:G Identity +NM_001317184.2:c.1115C>T NP_001304113.1:p.Pro372Leu NC_000016.10:68812240:C:T p.(Pro372Leu) NC_000016.10:68812240:C:T p.(Pro372Leu) NC_000016.10:68812240:C:T Identity +NM_000179.3:c.1729C>A NP_000170.1:p.Arg577Ser NC_000002.12:47799711:C:A p.(Arg577Ser) NC_000002.12:47799711:C:A p.(Arg577Ser) NC_000002.12:47799711:C:A Identity +NM_000179.3:c.2290dup NP_000170.1:p.Thr764fs NC_000002.12:47800272:A:AA p.(Thr764AsnfsTer8) NC_000002.12:47800272:A:AA p.(Thr764AsnfsTer8) ERR:SPDI Analogous +NM_001048171.2:c.1088A>G NP_001041636.2:p.Gln363Arg NC_000001.11:45331674:T:C p.(Gln363Arg) NC_000001.11:45331674:T:C p.(Gln363Arg) NC_000001.11:45331674:T:C Identity +NM_024675.4:c.2621C>A NP_078951.2:p.Ala874Asp NC_000016.10:23626362:G:T p.(Ala874Asp) NC_000016.10:23626362:G:T p.(Ala874Asp) NC_000016.10:23626362:G:T Identity +NM_024675.4:c.3194C>G NP_078951.2:p.Ser1065Cys NC_000016.10:23614010:G:C p.(Ser1065Cys) NC_000016.10:23614010:G:C p.(Ser1065Cys) NC_000016.10:23614010:G:C Identity +NM_000535.7:c.2534A>T NP_000526.2:p.His845Leu NC_000007.14:5973453:T:A p.(His845Leu) NC_000007.14:5973453:T:A p.(His845Leu) NC_000007.14:5973453:T:A Identity +NM_058216.3:c.562_565del NP_478123.1:p.Lys188fs NC_000017.11:58696849:AAGG: p.(Lys188GlufsTer50) NC_000017.11:58696849:AAGG: p.(Lys188GlufsTer50) NC_000017.11:58696849:AAGG: Analogous +NM_001128844.3:c.4890C>A NP_001122316.1:p.Asp1630Glu NC_000019.10:11060165:C:A p.(Asp1630Glu) NC_000019.10:11060165:C:A p.(Asp1630Glu) NC_000019.10:11060165:C:A Identity +NM_001128849.3:c.4259C>G NP_001122321.1:p.Ala1420Gly NC_000019.10:11039545:C:G p.(Ala1420Gly) NC_000019.10:11039545:C:G p.(Ala1420Gly) NC_000019.10:11039545:C:G Identity +NM_000245.4:c.955G>T NP_000236.2:p.Ala319Ser NC_000007.14:116700038:G:T p.(Ala319Ser) NC_000007.14:116700038:G:T p.(Ala319Ser) NC_000007.14:116700038:G:T Identity +NM_001294332.2:c.307G>A NP_001281261.1:p.Ala103Thr NC_000005.10:224515:G:A p.(Ala103Thr) NC_000005.10:224515:G:A p.(Ala103Thr) NC_000005.10:224515:G:A Identity +NM_000465.4:c.1553C>T NP_000456.2:p.Ala518Val NC_000002.12:214767496:G:A p.(Ala518Val) NC_000002.12:214767496:G:A p.(Ala518Val) NC_000002.12:214767496:G:A Identity +NM_001407571.1:c.4500C>G NP_001394500.1:p.Phe1500Leu NC_000017.11:43071200:G:C p.(Phe1500Leu) NC_000017.11:43071200:G:C p.(Phe1500Leu) NC_000017.11:43071200:G:C Identity +NM_001317184.2:c.1327G>A NP_001304113.1:p.Glu443Lys NC_000016.10:68815703:G:A p.(Glu443Lys) NC_000016.10:68815703:G:A p.(Glu443Lys) NC_000016.10:68815703:G:A Identity +NM_001407571.1:c.3841G>C NP_001394500.1:p.Glu1281Gln NC_000017.11:43091476:C:G p.(Glu1281Gln) NC_000017.11:43091476:C:G p.(Glu1281Gln) NC_000017.11:43091476:C:G Identity +NM_000059.4:c.8375T>G NP_000050.3:p.Leu2792Arg NC_000013.11:32370444:T:G p.(Leu2792Arg) NC_000013.11:32370444:T:G p.(Leu2792Arg) NC_000013.11:32370444:T:G Identity +NM_000465.4:c.1598A>G NP_000456.2:p.Tyr533Cys NC_000002.12:214752525:T:C p.(Tyr533Cys) NC_000002.12:214752525:T:C p.(Tyr533Cys) NC_000002.12:214752525:T:C Identity +NM_001407966.1:c.1583A>G NP_001394895.1:p.Asn528Ser NC_000017.11:43093059:T:C p.(Asn528Ser) NC_000017.11:43093059:T:C p.(Asn528Ser) NC_000017.11:43093059:T:C Identity +NM_001407904.1:c.4370T>C NP_001394833.1:p.Leu1457Pro NC_000017.11:43074422:A:G p.(Leu1457Pro) NC_000017.11:43074422:A:G p.(Leu1457Pro) NC_000017.11:43074422:A:G Identity +NM_000059.4:c.4150T>A NP_000050.3:p.Leu1384Met NC_000013.11:32338504:T:A p.(Leu1384Met) NC_000013.11:32338504:T:A p.(Leu1384Met) NC_000013.11:32338504:T:A Identity +NM_032043.3:c.1582A>G NP_114432.2:p.Lys528Glu NC_000017.11:61784315:T:C p.(Lys528Glu) NC_000017.11:61784315:T:C p.(Lys528Glu) NC_000017.11:61784315:T:C Identity +NM_001024688.3:c.50T>A NP_001019859.1:p.Phe17Tyr NC_000008.11:89981398:A:T p.(Phe17Tyr) NC_000008.11:89981398:A:T p.(Phe17Tyr) NC_000008.11:89981398:A:T Identity +NM_001024688.3:c.815C>T NP_001019859.1:p.Pro272Leu NC_000008.11:89958787:G:A p.(Pro272Leu) NC_000008.11:89958787:G:A p.(Pro272Leu) NC_000008.11:89958787:G:A Identity +NM_024675.4:c.1873del NP_078951.2:p.Glu625fs NC_000016.10:23630280:C: p.(Glu625LysfsTer3) NC_000016.10:23630280:C: p.(Glu625LysfsTer3) NC_000016.10:23630280:C: Analogous +NM_005732.4:c.1561C>T NP_005723.2:p.Leu521Phe NC_000005.10:132591331:C:T p.(Leu521Phe) NC_000005.10:132591331:C:T p.(Leu521Phe) NC_000005.10:132591331:C:T Identity +NM_001142571.2:c.353A>G NP_001136043.1:p.Tyr118Cys NC_000017.11:35107417:T:C p.(Tyr118Cys) NC_000017.11:35107417:T:C p.(Tyr118Cys) NC_000017.11:35107417:T:C Identity +LRG_308t1:c.1506G>C LRG_308p1:p.Lys502Asn NC_000016.10:23635039:C:G ERR:Data provider error: ValueError: Transcript LRG_308t1 not found ERR:Data provider error: ValueError: Transcript LRG_308t1 not found ERR:AlignmentMapper(tx_ac=LRG_308t1, alt_ac=LRG_308t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_308t1, alt_ac=LRG_308t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_308t1 not found +NM_024675.4:c.814G>T NP_078951.2:p.Glu272Ter NC_000016.10:23635731:C:A p.(Glu272Ter) NC_000016.10:23635731:C:A p.(Glu272Ter) NC_000016.10:23635731:C:A Identity +NM_024675.4:c.2619T>A NP_078951.2:p.Ser873Arg NC_000016.10:23626364:A:T p.(Ser873Arg) NC_000016.10:23626364:A:T p.(Ser873Arg) NC_000016.10:23626364:A:T Identity +NM_005732.4:c.3318A>T NP_005723.2:p.Glu1106Asp NC_000005.10:132618222:A:T p.(Glu1106Asp) NC_000005.10:132618222:A:T p.(Glu1106Asp) NC_000005.10:132618222:A:T Identity +NM_005732.4:c.1572G>T NP_005723.2:p.Glu524Asp NC_000005.10:132591342:G:T p.(Glu524Asp) NC_000005.10:132591342:G:T p.(Glu524Asp) NC_000005.10:132591342:G:T Identity +NM_000038.6:c.6032C>T NP_000029.2:p.Ser2011Leu NC_000005.10:112841625:C:T p.(Ser2011Leu) NC_000005.10:112841625:C:T p.(Ser2011Leu) NC_000005.10:112841625:C:T Identity +NM_024675.4:c.893T>C NP_078951.2:p.Val298Ala NC_000016.10:23635652:A:G p.(Val298Ala) NC_000016.10:23635652:A:G p.(Val298Ala) NC_000016.10:23635652:A:G Identity +NM_024675.4:c.1073C>A NP_078951.2:p.Pro358His NC_000016.10:23635472:G:T p.(Pro358His) NC_000016.10:23635472:G:T p.(Pro358His) NC_000016.10:23635472:G:T Identity +NM_000038.6:c.4696G>C NP_000029.2:p.Asp1566His NC_000005.10:112840289:G:C p.(Asp1566His) NC_000005.10:112840289:G:C p.(Asp1566His) NC_000005.10:112840289:G:C Identity +NM_000038.6:c.6970C>A NP_000029.2:p.Pro2324Thr NC_000005.10:112842563:C:A p.(Pro2324Thr) NC_000005.10:112842563:C:A p.(Pro2324Thr) NC_000005.10:112842563:C:A Identity +NM_000038.6:c.3047A>T NP_000029.2:p.Asp1016Val NC_000005.10:112838640:A:T p.(Asp1016Val) NC_000005.10:112838640:A:T p.(Asp1016Val) NC_000005.10:112838640:A:T Identity +NM_000038.6:c.7216A>G NP_000029.2:p.Asn2406Asp NC_000005.10:112842809:A:G p.(Asn2406Asp) NC_000005.10:112842809:A:G p.(Asn2406Asp) NC_000005.10:112842809:A:G Identity +NM_000038.6:c.1471G>A NP_000029.2:p.Asp491Asn NC_000005.10:112827169:G:A p.(Asp491Asn) NC_000005.10:112827169:G:A p.(Asp491Asn) NC_000005.10:112827169:G:A Identity +NM_000038.6:c.3122A>C NP_000029.2:p.Gln1041Pro NC_000005.10:112838715:A:C p.(Gln1041Pro) NC_000005.10:112838715:A:C p.(Gln1041Pro) NC_000005.10:112838715:A:C Identity +NM_000038.6:c.3478A>G NP_000029.2:p.Thr1160Ala NC_000005.10:112839071:A:G p.(Thr1160Ala) NC_000005.10:112839071:A:G p.(Thr1160Ala) NC_000005.10:112839071:A:G Identity +NM_000051.4:c.2054A>T NP_000042.3:p.Asn685Ile NC_000011.10:108253968:A:T p.(Asn685Ile) NC_000011.10:108253968:A:T p.(Asn685Ile) NC_000011.10:108253968:A:T Identity +NM_000051.4:c.989G>C NP_000042.3:p.Gly330Ala NC_000011.10:108247050:G:C p.(Gly330Ala) NC_000011.10:108247050:G:C p.(Gly330Ala) NC_000011.10:108247050:G:C Identity +NM_000038.6:c.1570G>A NP_000029.2:p.Gly524Ser NC_000005.10:112827949:G:A p.(Gly524Ser) NC_000005.10:112827949:G:A p.(Gly524Ser) NC_000005.10:112827949:G:A Identity +NM_000038.6:c.8221G>C NP_000029.2:p.Gly2741Arg NC_000005.10:112843814:G:C p.(Gly2741Arg) NC_000005.10:112843814:G:C p.(Gly2741Arg) NC_000005.10:112843814:G:C Identity +NM_000051.4:c.4888G>A NP_000042.3:p.Asp1630Asn NC_000011.10:108295037:G:A p.(Asp1630Asn) NC_000011.10:108295037:G:A p.(Asp1630Asn) NC_000011.10:108295037:G:A Identity +NM_001407626.1:c.2707T>C NP_001394555.1:p.Cys903Arg NC_000017.11:43092823:A:G p.(Cys903Arg) NC_000017.11:43092823:A:G p.(Cys903Arg) NC_000017.11:43092823:A:G Identity +NM_000059.4:c.2149T>G NP_000050.3:p.Cys717Gly NC_000013.11:32336503:T:G p.(Cys717Gly) NC_000013.11:32336503:T:G p.(Cys717Gly) NC_000013.11:32336503:T:G Identity +NM_000059.4:c.7898C>G NP_000050.3:p.Ala2633Gly NC_000013.11:32362614:C:G p.(Ala2633Gly) NC_000013.11:32362614:C:G p.(Ala2633Gly) NC_000013.11:32362614:C:G Identity +NM_024675.4:c.1795del NP_078951.2:p.Ser599fs NC_000016.10:23630358:T: p.(Ser599ValfsTer2) NC_000016.10:23630358:T: p.(Ser599ValfsTer2) NC_000016.10:23630358:T: Analogous +NM_005732.4:c.3421GAA[1] NP_005723.2:p.Glu1142del NC_000005.10:132637145:GAAGAA:GAA p.(Glu1142del) NC_000005.10:132637145:G:GAA ERR:Parse ERR:Parse Identity +NM_001407668.1:c.679A>G NP_001394597.1:p.Asn227Asp NC_000017.11:43094728:T:C p.(Asn227Asp) NC_000017.11:43094728:T:C p.(Asn227Asp) NC_000017.11:43094728:T:C Identity +NM_001407920.1:c.2237G>T NP_001394849.1:p.Gly746Val NC_000017.11:43093029:C:A p.(Gly746Val) NC_000017.11:43093029:C:A p.(Gly746Val) NC_000017.11:43093029:C:A Identity +NM_032043.3:c.3350C>T NP_114432.2:p.Ser1117Leu NC_000017.11:61683695:G:A p.(Ser1117Leu) NC_000017.11:61683695:G:A p.(Ser1117Leu) NC_000017.11:61683695:G:A Identity +NM_032043.3:c.2360C>G NP_114432.2:p.Pro787Arg NC_000017.11:61743031:G:C p.(Pro787Arg) NC_000017.11:61743031:G:C p.(Pro787Arg) NC_000017.11:61743031:G:C Identity +NM_001317184.2:c.1420A>C NP_001304113.1:p.Ile474Leu NC_000016.10:68819316:A:C p.(Ile474Leu) NC_000016.10:68819316:A:C p.(Ile474Leu) NC_000016.10:68819316:A:C Identity +NM_001195573.1:c.5027G>C NP_001182502.1:p.Arg1676Thr NC_000014.9:95095892:C:G p.(Arg1676Thr) NC_000014.9:95095892:C:G p.(Arg1676Thr) NC_000014.9:95095892:C:G Identity +NM_000051.4:c.2033T>C NP_000042.3:p.Ile678Thr NC_000011.10:108253947:T:C p.(Ile678Thr) NC_000011.10:108253947:T:C p.(Ile678Thr) NC_000011.10:108253947:T:C Identity +NM_000465.4:c.858dup NP_000456.2:p.Glu287fs NC_000002.12:214781015:T:TT p.(Glu287ArgfsTer6) NC_000002.12:214781015:T:TT p.(Glu287ArgfsTer6) ERR:SPDI Analogous +NM_000038.6:c.1043G>A NP_000029.2:p.Arg348Gln NC_000005.10:112819074:G:A p.(Arg348Gln) NC_000005.10:112819074:G:A p.(Arg348Gln) NC_000005.10:112819074:G:A Identity +NM_001195573.1:c.3397G>A NP_001182502.1:p.Ala1133Thr NC_000014.9:95103998:C:T p.(Ala1133Thr) NC_000014.9:95103998:C:T p.(Ala1133Thr) NC_000014.9:95103998:C:T Identity +NM_001330347.2:c.587A>G NP_001317276.1:p.Lys196Arg NC_000011.10:94476360:T:C p.(Lys196Arg) NC_000011.10:94476360:T:C p.(Lys196Arg) NC_000011.10:94476360:T:C Identity +NM_000251.3:c.1094C>A NP_000242.1:p.Ala365Asp NC_000002.12:47429758:C:A p.(Ala365Asp) NC_000002.12:47429758:C:A p.(Ala365Asp) NC_000002.12:47429758:C:A Identity +NM_000251.3:c.1577C>A NP_000242.1:p.Thr526Asn NC_000002.12:47466723:C:A p.(Thr526Asn) NC_000002.12:47466723:C:A p.(Thr526Asn) NC_000002.12:47466723:C:A Identity +NM_000251.3:c.246A>T NP_000242.1:p.Lys82Asn NC_000002.12:47408434:A:T p.(Lys82Asn) NC_000002.12:47408434:A:T p.(Lys82Asn) NC_000002.12:47408434:A:T Identity +NM_000179.3:c.3383A>T NP_000170.1:p.Tyr1128Phe NC_000002.12:47803629:A:T p.(Tyr1128Phe) NC_000002.12:47803629:A:T p.(Tyr1128Phe) NC_000002.12:47803629:A:T Identity +NM_001024688.3:c.1402_1405del NP_001019859.1:p.Lys468fs NC_000008.11:89953437:TTTTTTT:TTT p.(Lys468GlyfsTer8) NC_000008.11:89953437:TTTTTTT:TTT p.(Lys468GlyfsTer8) NC_000008.11:89953437:TTTT: Analogous +NM_001407571.1:c.4346G>C NP_001394500.1:p.Arg1449Thr NC_000017.11:43074446:C:G p.(Arg1449Thr) NC_000017.11:43074446:C:G p.(Arg1449Thr) NC_000017.11:43074446:C:G Identity +NM_000051.4:c.1849A>G NP_000042.3:p.Met617Val NC_000011.10:108252862:A:G p.(Met617Val) NC_000011.10:108252862:A:G p.(Met617Val) NC_000011.10:108252862:A:G Identity +NM_000051.4:c.58G>A NP_000042.3:p.Ala20Thr NC_000011.10:108227681:G:A p.(Ala20Thr) NC_000011.10:108227681:G:A p.(Ala20Thr) NC_000011.10:108227681:G:A Identity +NM_000535.7:c.2267A>T NP_000526.2:p.Asp756Val NC_000007.14:5978603:T:A p.(Asp756Val) NC_000007.14:5978603:T:A p.(Asp756Val) NC_000007.14:5978603:T:A Identity +NM_001330347.2:c.2116A>G NP_001317276.1:p.Arg706Gly NC_000011.10:94420132:T:C p.(Arg706Gly) NC_000011.10:94420132:T:C p.(Arg706Gly) NC_000011.10:94420132:T:C Identity +NM_000251.3:c.353A>G NP_000242.1:p.Tyr118Cys NC_000002.12:47408541:A:G p.(Tyr118Cys) NC_000002.12:47408541:A:G p.(Tyr118Cys) NC_000002.12:47408541:A:G Identity +NM_000059.4:c.4253T>C NP_000050.3:p.Ile1418Thr NC_000013.11:32338607:T:C p.(Ile1418Thr) NC_000013.11:32338607:T:C p.(Ile1418Thr) NC_000013.11:32338607:T:C Identity +NM_000075.4:c.739G>A NP_000066.1:p.Gly247Arg NC_000012.12:57749261:C:T p.(Gly247Arg) NC_000012.12:57749261:C:T p.(Gly247Arg) NC_000012.12:57749261:C:T Identity +NM_000249.4:c.1682A>G NP_000240.1:p.Tyr561Cys NC_000003.12:37042281:A:G p.(Tyr561Cys) NC_000003.12:37042281:A:G p.(Tyr561Cys) NC_000003.12:37042281:A:G Identity +NM_001330347.2:c.1648T>A NP_001317276.1:p.Leu550Ile NC_000011.10:94447353:A:T p.(Leu550Ile) NC_000011.10:94447353:A:T p.(Leu550Ile) NC_000011.10:94447353:A:T Identity +NM_001330347.2:c.1773_1774del NP_001317276.1:p.Gly593fs NC_000011.10:94447227:TTT:T p.(Gly593LysfsTer11) NC_000011.10:94447227:TTT:T p.(Gly593LysfsTer11) NC_000011.10:94447227:TT: Analogous +NM_001256849.1:c.1023_1033del NP_001243778.1:p.Leu342fs NC_000019.10:50403097:CGCTGGGCCTGCGCTGGG:CGCTGGG p.(Leu342GlyfsTer289) NC_000019.10:50403097:CGCTGGGCCTGCGCTGGG:CGCTGGG p.(Leu342GlyfsTer289) NC_000019.10:50403104:CCTGCGCTGGG: Analogous +NM_006231.4:c.1322C>G NP_006222.2:p.Pro441Arg NC_000012.12:132673611:G:C p.(Pro441Arg) NC_000012.12:132673611:G:C p.(Pro441Arg) NC_000012.12:132673611:G:C Identity +NM_005732.4:c.3765T>G NP_005723.2:p.Ser1255Arg NC_000005.10:132642189:T:G p.(Ser1255Arg) NC_000005.10:132642189:T:G p.(Ser1255Arg) NC_000005.10:132642189:T:G Identity +NM_000179.3:c.3516A>T NP_000170.1:p.Arg1172Ser NC_000002.12:47804986:A:T p.(Arg1172Ser) NC_000002.12:47804986:A:T p.(Arg1172Ser) NC_000002.12:47804986:A:T Identity +NM_000179.3:c.3919A>G NP_000170.1:p.Asn1307Asp NC_000002.12:47806568:A:G p.(Asn1307Asp) NC_000002.12:47806568:A:G p.(Asn1307Asp) NC_000002.12:47806568:A:G Identity +NM_001024688.3:c.346C>T NP_001019859.1:p.Pro116Ser NC_000008.11:89971282:G:A p.(Pro116Ser) NC_000008.11:89971282:G:A p.(Pro116Ser) NC_000008.11:89971282:G:A Identity +NM_024675.4:c.3201G>A NP_078951.2:p.Met1067Ile NC_000016.10:23614003:C:T p.(Met1067Ile) NC_000016.10:23614003:C:T p.(Met1067Ile) NC_000016.10:23614003:C:T Identity +NM_000535.7:c.844A>G NP_000526.2:p.Arg282Gly NC_000007.14:5995592:T:C p.(Arg282Gly) NC_000007.14:5995592:T:C p.(Arg282Gly) NC_000007.14:5995592:T:C Identity +NM_000535.7:c.2431G>A NP_000526.2:p.Ala811Thr NC_000007.14:5977601:C:T p.(Ala811Thr) NC_000007.14:5977601:C:T p.(Ala811Thr) NC_000007.14:5977601:C:T Identity +NM_000059.4:c.5533A>G NP_000050.3:p.Arg1845Gly NC_000013.11:32339887:A:G p.(Arg1845Gly) NC_000013.11:32339887:A:G p.(Arg1845Gly) NC_000013.11:32339887:A:G Identity +NM_000077.5:c.220G>A NP_000068.1:p.Asp74Asn NC_000009.12:21971138:C:T p.(Asp74Asn) NC_000009.12:21971138:C:T p.(Asp74Asn) NC_000009.12:21971138:C:T Identity +NM_001256849.1:c.1456_1458del NP_001243778.1:p.Lys486del NC_000019.10:50406476:AGAAG:AG p.(Lys486del) NC_000019.10:50406476:AGAAG:AG p.(Lys486del) NC_000019.10:50406478:AAG: Identity +NM_006231.4:c.1423C>A NP_006222.2:p.His475Asn NC_000012.12:132673213:G:T p.(His475Asn) NC_000012.12:132673213:G:T p.(His475Asn) NC_000012.12:132673213:G:T Identity +NM_000314.8:c.1087A>G NP_000305.3:p.Thr363Ala NC_000010.11:87965346:A:G p.(Thr363Ala) NC_000010.11:87965346:A:G p.(Thr363Ala) NC_000010.11:87965346:A:G Identity +NM_005732.4:c.2344G>C NP_005723.2:p.Glu782Gln NC_000005.10:132603435:G:C p.(Glu782Gln) NC_000005.10:132603435:G:C p.(Glu782Gln) NC_000005.10:132603435:G:C Identity +NM_000179.3:c.3G>C NP_000170.1:p.Met1Ile NC_000002.12:47783235:G:C p.(Met1Ile) NC_000002.12:47783235:G:C p.Met1? NC_000002.12:47783235:G:C Identity +NM_005359.6:c.556C>G NP_005350.1:p.Pro186Ala NC_000018.10:51054881:C:G p.(Pro186Ala) NC_000018.10:51054881:C:G p.(Pro186Ala) NC_000018.10:51054881:C:G Identity +NM_001271282.3:c.5678T>C NP_001258211.1:p.Val1893Ala NC_000014.9:95090588:A:G p.(Val1893Ala) NC_000014.9:95090588:A:G p.(Val1893Ala) NC_000014.9:95090588:A:G Identity +NM_006361.6:c.85G>T NP_006352.2:p.Ala29Ser NC_000017.11:48728508:C:A p.(Ala29Ser) NC_000017.11:48728508:C:A p.(Ala29Ser) NC_000017.11:48728508:C:A Identity +NM_006361.6:c.473C>A NP_006352.2:p.Pro158Gln NC_000017.11:48728120:G:T p.(Pro158Gln) NC_000017.11:48728120:G:T p.(Pro158Gln) NC_000017.11:48728120:G:T Identity +NM_001330347.2:c.1195T>C NP_001317276.1:p.Phe399Leu NC_000011.10:94464142:A:G p.(Phe399Leu) NC_000011.10:94464142:A:G p.(Phe399Leu) NC_000011.10:94464142:A:G Identity +NM_001128844.3:c.2455G>A NP_001122316.1:p.Ala819Thr NC_000019.10:11018972:G:A p.(Ala819Thr) NC_000019.10:11018972:G:A p.(Ala819Thr) NC_000019.10:11018972:G:A Identity +NM_001353765.2:c.134G>A NP_001340694.1:p.Arg45Gln NC_000002.12:29223362:C:T p.(Arg45Gln) NC_000002.12:29223362:C:T p.(Arg45Gln) NC_000002.12:29223362:C:T Identity +NM_000038.6:c.8027C>T NP_000029.2:p.Thr2676Ile NC_000005.10:112843620:C:T p.(Thr2676Ile) NC_000005.10:112843620:C:T p.(Thr2676Ile) NC_000005.10:112843620:C:T Identity +NM_000051.4:c.5402dup NP_000042.3:p.Asn1801fs NC_000011.10:108302931:AAAA:AAAAA p.(Asn1801LysfsTer3) NC_000011.10:108302931:AAAA:AAAAA p.(Asn1801LysfsTer3) ERR:SPDI Analogous +NM_000179.3:c.1250A>C NP_000170.1:p.Lys417Thr NC_000002.12:47799232:A:C p.(Lys417Thr) NC_000002.12:47799232:A:C p.(Lys417Thr) NC_000002.12:47799232:A:C Identity +NM_000051.4:c.2306A>G NP_000042.3:p.Glu769Gly NC_000011.10:108257535:A:G p.(Glu769Gly) NC_000011.10:108257535:A:G p.(Glu769Gly) NC_000011.10:108257535:A:G Identity +NM_000051.4:c.3071C>T NP_000042.3:p.Ala1024Val NC_000011.10:108271399:C:T p.(Ala1024Val) NC_000011.10:108271399:C:T p.(Ala1024Val) NC_000011.10:108271399:C:T Identity +NM_000059.4:c.9584C>G NP_000050.3:p.Thr3195Ser NC_000013.11:32396979:C:G p.(Thr3195Ser) NC_000013.11:32396979:C:G p.(Thr3195Ser) NC_000013.11:32396979:C:G Identity +NM_000535.7:c.1079T>A NP_000526.2:p.Ile360Lys NC_000007.14:5989864:A:T p.(Ile360Lys) NC_000007.14:5989864:A:T p.(Ile360Lys) NC_000007.14:5989864:A:T Identity +NM_006231.4:c.3652G>A NP_006222.2:p.Val1218Ile NC_000012.12:132649819:C:T p.(Val1218Ile) NC_000012.12:132649819:C:T p.(Val1218Ile) NC_000012.12:132649819:C:T Identity +NM_006231.4:c.6585CTC[1] NP_006222.2:p.Ser2197del NC_000012.12:132625711:GAGGAG:GAG p.(Ser2197del) NC_000012.12:132625716:G:GAG ERR:Parse ERR:Parse Identity +NM_005732.4:c.1247A>G NP_005723.2:p.Asn416Ser NC_000005.10:132589631:A:G p.(Asn416Ser) NC_000005.10:132589631:A:G p.(Asn416Ser) NC_000005.10:132589631:A:G Identity +NM_024675.4:c.3432_3433delinsAT NP_078951.2:p.Gly1145Cys NC_000016.10:23603586:CG:AT p.(Gly1145Cys) NC_000016.10:23603586:CG:AT p.(Gly1145Cys) NC_000016.10:23603586:CG:AT Identity +NM_032043.3:c.3173_3179delinsCTC NP_114432.2:p.Leu1058fs NC_000017.11:61683866:ACTGTCA:GAG p.(Leu1058ProfsTer19) NC_000017.11:61683866:ACTGTCA:GAG p.(Leu1058ProfsTer19) NC_000017.11:61683866:ACTGTCA:GAG Analogous +NM_000245.4:c.818C>A NP_000236.2:p.Thr273Asn NC_000007.14:116699901:C:A p.(Thr273Asn) NC_000007.14:116699901:C:A p.(Thr273Asn) NC_000007.14:116699901:C:A Identity +NM_000179.3:c.1696G>T NP_000170.1:p.Gly566Ter NC_000002.12:47799678:G:T p.(Gly566Ter) NC_000002.12:47799678:G:T p.(Gly566Ter) NC_000002.12:47799678:G:T Identity +NM_000245.4:c.2432T>A NP_000236.2:p.Leu811Gln NC_000007.14:116763116:T:A p.(Leu811Gln) NC_000007.14:116763116:T:A p.(Leu811Gln) NC_000007.14:116763116:T:A Identity +NM_000251.3:c.19G>C NP_000242.1:p.Glu7Gln NC_000002.12:47403209:G:C p.(Glu7Gln) NC_000002.12:47403209:G:C p.(Glu7Gln) NC_000002.12:47403209:G:C Identity +NM_001024688.3:c.1411A>G NP_001019859.1:p.Met471Val NC_000008.11:89953431:T:C p.(Met471Val) NC_000008.11:89953431:T:C p.(Met471Val) NC_000008.11:89953431:T:C Identity +NM_001128844.3:c.4725T>G NP_001122316.1:p.Ser1575Arg NC_000019.10:11059841:T:G p.(Ser1575Arg) NC_000019.10:11059841:T:G p.(Ser1575Arg) NC_000019.10:11059841:T:G Identity +NM_000546.6:c.121G>A NP_000537.3:p.Asp41Asn NC_000017.11:7676247:C:T p.(Asp41Asn) NC_000017.11:7676247:C:T p.(Asp41Asn) NC_000017.11:7676247:C:T Identity +NM_000465.4:c.884A>G NP_000456.2:p.Asn295Ser NC_000002.12:214780989:T:C p.(Asn295Ser) NC_000002.12:214780989:T:C p.(Asn295Ser) NC_000002.12:214780989:T:C Identity +NM_000059.4:c.1991G>C NP_000050.3:p.Gly664Ala NC_000013.11:32336345:G:C p.(Gly664Ala) NC_000013.11:32336345:G:C p.(Gly664Ala) NC_000013.11:32336345:G:C Identity +NM_000143.4:c.1045C>G NP_000134.2:p.Pro349Ala NC_000001.11:241504104:G:C p.(Pro349Ala) NC_000001.11:241504104:G:C p.(Pro349Ala) NC_000001.11:241504104:G:C Identity +NM_006361.6:c.232G>A NP_006352.2:p.Val78Met NC_000017.11:48728361:C:T p.(Val78Met) NC_000017.11:48728361:C:T p.(Val78Met) NC_000017.11:48728361:C:T Identity +NM_001142571.2:c.421G>A NP_001136043.1:p.Ala141Thr NC_000017.11:35107106:C:T p.(Ala141Thr) NC_000017.11:35107106:C:T p.(Ala141Thr) NC_000017.11:35107106:C:T Identity +NM_001128844.3:c.1726G>T NP_001122316.1:p.Val576Phe NC_000019.10:10996344:G:T p.(Val576Phe) NC_000019.10:10996344:G:T p.(Val576Phe) NC_000019.10:10996344:G:T Identity +NM_001276503.2:c.65G>A NP_001263432.1:p.Arg22Gln NC_000011.10:112087868:G:A p.(Arg22Gln) NC_000011.10:112087868:G:A p.(Arg22Gln) NC_000011.10:112087868:G:A Identity +NM_001128844.3:c.4322A>G NP_001122316.1:p.Lys1441Arg NC_000019.10:11041457:A:G p.(Lys1441Arg) NC_000019.10:11041457:A:G p.(Lys1441Arg) NC_000019.10:11041457:A:G Identity +NM_000548.5:c.3447C>A NP_000539.2:p.Phe1149Leu NC_000016.10:2080213:C:A p.(Phe1149Leu) NC_000016.10:2080213:C:A p.(Phe1149Leu) NC_000016.10:2080213:C:A Identity +NM_000038.6:c.2882A>G NP_000029.2:p.Asn961Ser NC_000005.10:112838475:A:G p.(Asn961Ser) NC_000005.10:112838475:A:G p.(Asn961Ser) NC_000005.10:112838475:A:G Identity +NM_001007468.3:c.940C>A NP_001007469.1:p.Gln314Lys NC_000022.11:23825395:C:A p.(Gln314Lys) NC_000022.11:23825395:C:A p.(Gln314Lys) NC_000022.11:23825395:C:A Identity +NM_003079.5:c.412G>A NP_003070.3:p.Ala138Thr NC_000017.11:40636059:C:T p.(Ala138Thr) NC_000017.11:40636059:C:T p.(Ala138Thr) NC_000017.11:40636059:C:T Identity +NM_000368.5:c.2643A>T NP_000359.1:p.Lys881Asn NC_000009.12:132897592:T:A p.(Lys881Asn) NC_000009.12:132897592:T:A p.(Lys881Asn) NC_000009.12:132897592:T:A Identity +NM_000548.5:c.4847A>G NP_000539.2:p.Gln1616Arg NC_000016.10:2086376:A:G p.(Gln1616Arg) NC_000016.10:2086376:A:G p.(Gln1616Arg) NC_000016.10:2086376:A:G Identity +NM_000051.4:c.3113T>A NP_000042.3:p.Val1038Glu NC_000011.10:108272566:T:A p.(Val1038Glu) NC_000011.10:108272566:T:A p.(Val1038Glu) NC_000011.10:108272566:T:A Identity +NM_001407571.1:c.3398G>C NP_001394500.1:p.Arg1133Thr NC_000017.11:43091919:C:G p.(Arg1133Thr) NC_000017.11:43091919:C:G p.(Arg1133Thr) NC_000017.11:43091919:C:G Identity +NM_000059.4:c.1673_1677del NP_000050.3:p.Ile558fs NC_000013.11:32333150:TTGAT: p.(Ile558LysfsTer30) NC_000013.11:32333150:TTGAT: p.(Ile558LysfsTer30) NC_000013.11:32333150:TTGAT: Analogous +NM_000038.6:c.8514C>A NP_000029.2:p.Tyr2838Ter NC_000005.10:112844107:C:A p.(Tyr2838Ter) NC_000005.10:112844107:C:A p.(Tyr2838Ter) NC_000005.10:112844107:C:A Identity +NM_004064.5:c.321G>T NP_004055.1:p.Gln107His NC_000012.12:12718159:G:T p.(Gln107His) NC_000012.12:12718159:G:T p.(Gln107His) NC_000012.12:12718159:G:T Identity +NM_000077.5:c.419G>A NP_000068.1:p.Ser140Asn NC_000009.12:21970939:C:T p.(Ser140Asn) NC_000009.12:21970939:C:T p.(Ser140Asn) NC_000009.12:21970939:C:T Identity +NM_001353229.2:c.664G>A NP_001340158.1:p.Ala222Thr NC_000017.11:17223929:C:T p.(Ala222Thr) NC_000017.11:17223929:C:T p.(Ala222Thr) NC_000017.11:17223929:C:T Identity +NM_024642.5:c.1655G>A NP_078918.3:p.Arg552Lys NC_000009.12:98849000:G:A p.(Arg552Lys) NC_000009.12:98849000:G:A p.(Arg552Lys) NC_000009.12:98849000:G:A Identity +NM_004329.3:c.223A>G NP_004320.2:p.Thr75Ala NC_000010.11:86890216:A:G p.(Thr75Ala) NC_000010.11:86890216:A:G p.(Thr75Ala) NC_000010.11:86890216:A:G Identity +NM_000268.4:c.1699G>A NP_000259.1:p.Asp567Asn NC_000022.11:29681562:G:A p.(Asp567Asn) NC_000022.11:29681562:G:A p.(Asp567Asn) NC_000022.11:29681562:G:A Identity +NM_000038.6:c.1505G>A NP_000029.2:p.Gly502Glu NC_000005.10:112827203:G:A p.(Gly502Glu) NC_000005.10:112827203:G:A p.(Gly502Glu) NC_000005.10:112827203:G:A Identity +NM_015192.4:c.3533A>G NP_056007.1:p.Asn1178Ser NC_000020.11:8881730:A:G p.(Asn1178Ser) NC_000020.11:8881730:A:G p.(Asn1178Ser) NC_000020.11:8881730:A:G Identity +NM_000832.7:c.649C>T NP_000823.4:p.Arg217Trp NC_000009.12:137149086:C:T p.(Arg217Trp) NC_000009.12:137149086:C:T p.(Arg217Trp) NC_000009.12:137149086:C:T Identity +NM_001079668.3:c.1106C>T NP_001073136.1:p.Ala369Val NC_000014.9:36517377:G:A p.(Ala369Val) NC_000014.9:36517377:G:A p.(Ala369Val) NC_000014.9:36517377:G:A Identity +NM_003373.4:c.550C>T NP_003364.1:p.His184Tyr NC_000010.11:74072779:C:T p.(His184Tyr) NC_000010.11:74072779:C:T p.(His184Tyr) NC_000010.11:74072779:C:T Identity +NM_000428.3:c.1609C>A NP_000419.1:p.Pro537Thr NC_000014.9:74551140:G:T p.(Pro537Thr) NC_000014.9:74551140:G:T p.(Pro537Thr) NC_000014.9:74551140:G:T Identity +NM_001145079.2:c.1A>G NP_001138551.1:p.Met1Val NC_000013.11:39655726:A:G p.(Met1Val) NC_000013.11:39655726:A:G p.Met1? NC_000013.11:39655726:A:G Identity +LRG_402t1:c.3767C>T LRG_402p1:p.Pro1256Leu NC_000001.11:237589960:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_006204.4:c.775C>T NP_006195.3:p.Arg259Ter NC_000010.11:93621982:C:T p.(Arg259Ter) NC_000010.11:93621982:C:T p.(Arg259Ter) NC_000010.11:93621982:C:T Identity +NM_001303543.1:c.439C>A NP_001290472.1:p.Leu147Met NC_000023.11:155228428:C:A p.(Leu147Met) NC_000023.11:155228428:C:A p.(Leu147Met) NC_000023.11:155228428:C:A Identity +NM_001127366.3:c.724_736del NP_001120838.1:p.Tyr242fs NC_000002.12:222232130:AAATGTCAGGGTAA:A p.(Tyr242IlefsTer37) NC_000002.12:222232130:AAATGTCAGGGTAA:A p.(Tyr242IlefsTer37) NC_000002.12:222232130:AAATGTCAGGGTA: Analogous +NM_001330311.2:c.1571_1583del NP_001317240.1:p.Pro524fs NC_000001.11:1338107:GGGTGGGGCAGCGGGG:GGG p.(Pro524ArgfsTer146) NC_000001.11:1338107:GGGTGGGGCAGCGGGG:GGG p.(Pro524ArgfsTer146) NC_000001.11:1338107:GGGTGGGGCAGCG: Analogous +NM_001164277.2:c.110C>A NP_001157749.1:p.Ser37Ter NC_000011.10:119029259:G:T p.(Ser37Ter) NC_000011.10:119029259:G:T p.(Ser37Ter) NC_000011.10:119029259:G:T Identity +NM_000264.5:c.2177C>T NP_000255.2:p.Pro726Leu NC_000009.12:95468823:G:A p.(Pro726Leu) NC_000009.12:95468823:G:A p.(Pro726Leu) NC_000009.12:95468823:G:A Identity +NM_002878.4:c.262A>G NP_002869.3:p.Ser88Gly NC_000017.11:35118501:T:C p.(Ser88Gly) NC_000017.11:35118501:T:C p.(Ser88Gly) NC_000017.11:35118501:T:C Identity +NM_001145527.2:c.508C>T NP_001138999.1:p.Gln170Ter NC_000009.12:137717047:C:T p.(Gln170Ter) NC_000009.12:137717047:C:T p.(Gln170Ter) NC_000009.12:137717047:C:T Identity +NM_001288739.2:c.2536C>T NP_001275668.1:p.Arg846Ter NC_000009.12:128254654:C:T p.(Arg846Ter) NC_000009.12:128254654:C:T p.(Arg846Ter) NC_000009.12:128254654:C:T Identity +NM_005431.2:c.640C>T NP_005422.1:p.Arg214Ter NC_000007.14:152648844:G:A p.(Arg214Ter) NC_000007.14:152648844:G:A p.(Arg214Ter) NC_000007.14:152648844:G:A Identity +NM_001294332.2:c.1049A>T NP_001281261.1:p.Glu350Val NC_000005.10:235271:A:T p.(Glu350Val) NC_000005.10:235271:A:T p.(Glu350Val) NC_000005.10:235271:A:T Identity +NM_001035511.3:c.323T>C NP_001030588.1:p.Leu108Pro NC_000001.11:161362409:T:C p.(Leu108Pro) NC_000001.11:161362409:T:C p.(Leu108Pro) NC_000001.11:161362409:T:C Identity +NM_001257180.2:c.1604G>A NP_001244109.1:p.Trp535Ter NC_000008.11:42430168:C:T p.(Trp535Ter) NC_000008.11:42430168:C:T p.(Trp535Ter) NC_000008.11:42430168:C:T Identity +NM_001282167.2:c.607_608delinsCCCCCAG NP_001269096.1:p.Thr203fs NC_000023.11:48514531:AC:CCCCCAG p.(Thr203ProfsTer8) NC_000023.11:48514531:AC:CCCCCAG p.(Thr203ProfsTer8) NC_000023.11:48514531:AC:CCCCCAG Analogous +NM_001330311.2:c.1698del NP_001317240.1:p.Ser567fs NC_000001.11:1337992:CCC:CC p.(Ser567ValfsTer107) NC_000001.11:1337992:CCC:CC p.(Ser567ValfsTer107) NC_000001.11:1337992:C: Analogous +NM_000245.4:c.3200A>T NP_000236.2:p.Gln1067Leu NC_000007.14:116775051:A:T p.(Gln1067Leu) NC_000007.14:116775051:A:T p.(Gln1067Leu) NC_000007.14:116775051:A:T Identity +NM_004586.3:c.327del NP_004577.1:p.Arg110fs NC_000023.11:20195143:AA:A p.(Arg110GlufsTer14) NC_000023.11:20195143:AA:A p.(Arg110GlufsTer14) NC_000023.11:20195143:A: Analogous +NM_000038.6:c.4067C>G NP_000029.2:p.Ser1356Ter NC_000005.10:112839660:C:G p.(Ser1356Ter) NC_000005.10:112839660:C:G p.(Ser1356Ter) NC_000005.10:112839660:C:G Identity +NM_000251.3:c.1224T>G NP_000242.1:p.Tyr408Ter NC_000002.12:47429888:T:G p.(Tyr408Ter) NC_000002.12:47429888:T:G p.(Tyr408Ter) NC_000002.12:47429888:T:G Identity +NM_006231.4:c.5032C>T NP_006222.2:p.Gln1678Ter NC_000012.12:132642317:G:A p.(Gln1678Ter) NC_000012.12:132642317:G:A p.(Gln1678Ter) NC_000012.12:132642317:G:A Identity +NM_000249.4:c.217C>G NP_000240.1:p.Leu73Val NC_000003.12:37000963:C:G p.(Leu73Val) NC_000003.12:37000963:C:G p.(Leu73Val) NC_000003.12:37000963:C:G Identity +NM_002876.4:c.367A>G NP_002867.1:p.Ile123Val NC_000017.11:58695151:A:G p.(Ile123Val) NC_000017.11:58695151:A:G p.(Ile123Val) NC_000017.11:58695151:A:G Identity +NM_001351835.2:c.332G>A NP_001338764.1:p.Ser111Asn NC_000011.10:108229323:G:A p.(Ser111Asn) NC_000011.10:108229323:G:A p.(Ser111Asn) NC_000011.10:108229323:G:A Identity +NM_005144.5:c.2886C>G NP_005135.2:p.Tyr962Ter NC_000008.11:22119850:G:C p.(Tyr962Ter) NC_000008.11:22119850:G:C p.(Tyr962Ter) NC_000008.11:22119850:G:C Identity +NM_015202.5:c.4420del NP_056017.4:p.Met1474fs NC_000016.10:27775054:A: p.(Met1474CysfsTer11) NC_000016.10:27775054:A: p.(Met1474CysfsTer11) NC_000016.10:27775054:A: Analogous +NM_000038.6:c.3914C>G NP_000029.2:p.Ala1305Gly NC_000005.10:112839507:C:G p.(Ala1305Gly) NC_000005.10:112839507:C:G p.(Ala1305Gly) NC_000005.10:112839507:C:G Identity +NM_001128855.3:c.440C>T NP_001122327.1:p.Ala147Val NC_000019.10:17338589:C:T p.(Ala147Val) NC_000019.10:17338589:C:T p.(Ala147Val) NC_000019.10:17338589:C:T Identity +NM_000038.6:c.6520A>G NP_000029.2:p.Ser2174Gly NC_000005.10:112842113:A:G p.(Ser2174Gly) NC_000005.10:112842113:A:G p.(Ser2174Gly) NC_000005.10:112842113:A:G Identity +NM_000051.4:c.4261G>A NP_000042.3:p.Ala1421Thr NC_000011.10:108289625:G:A p.(Ala1421Thr) NC_000011.10:108289625:G:A p.(Ala1421Thr) NC_000011.10:108289625:G:A Identity +NM_004329.3:c.89T>G NP_004320.2:p.Leu30Arg NC_000010.11:86890082:T:G p.(Leu30Arg) NC_000010.11:86890082:T:G p.(Leu30Arg) NC_000010.11:86890082:T:G Identity +NM_001408444.1:c.571G>T NP_001395373.1:p.Asp191Tyr NC_000017.11:43094836:C:A p.(Asp191Tyr) NC_000017.11:43094836:C:A p.(Asp191Tyr) NC_000017.11:43094836:C:A Identity +NM_000059.4:c.3032C>T NP_000050.3:p.Thr1011Ile NC_000013.11:32337386:C:T p.(Thr1011Ile) NC_000013.11:32337386:C:T p.(Thr1011Ile) NC_000013.11:32337386:C:T Identity +NM_001270484.2:c.571C>T NP_001257413.1:p.Gln191Ter NC_000006.12:166165740:G:A p.(Gln191Ter) NC_000006.12:166165740:G:A p.(Gln191Ter) NC_000006.12:166165740:G:A Identity +NM_017767.3:c.3G>A NP_060237.3:p.Met1Ile NC_000008.11:144416205:C:T p.(Met1Ile) NC_000008.11:144416205:C:T p.Met1? NC_000008.11:144416205:C:T Identity +NM_001407571.1:c.3146T>A NP_001394500.1:p.Val1049Asp NC_000017.11:43092171:A:T p.(Val1049Asp) NC_000017.11:43092171:A:T p.(Val1049Asp) NC_000017.11:43092171:A:T Identity +NM_000046.5:c.753C>G NP_000037.2:p.Tyr251Ter NC_000005.10:78955439:G:C p.(Tyr251Ter) NC_000005.10:78955439:G:C p.(Tyr251Ter) NC_000005.10:78955439:G:C Identity +NM_000179.3:c.2575C>G NP_000170.1:p.Leu859Val NC_000002.12:47800557:C:G p.(Leu859Val) NC_000002.12:47800557:C:G p.(Leu859Val) NC_000002.12:47800557:C:G Identity +NM_058216.3:c.970G>A NP_478123.1:p.Ala324Thr NC_000017.11:58732487:G:A p.(Ala324Thr) NC_000017.11:58732487:G:A p.(Ala324Thr) NC_000017.11:58732487:G:A Identity +NM_000251.3:c.1114T>G NP_000242.1:p.Leu372Val NC_000002.12:47429778:T:G p.(Leu372Val) NC_000002.12:47429778:T:G p.(Leu372Val) NC_000002.12:47429778:T:G Identity +NM_000179.3:c.1828A>G NP_000170.1:p.Lys610Glu NC_000002.12:47799810:A:G p.(Lys610Glu) NC_000002.12:47799810:A:G p.(Lys610Glu) NC_000002.12:47799810:A:G Identity +NM_000455.5:c.358G>A NP_000446.1:p.Glu120Lys NC_000019.10:1218483:G:A p.(Glu120Lys) NC_000019.10:1218483:G:A p.(Glu120Lys) NC_000019.10:1218483:G:A Identity +NM_000455.5:c.740A>T NP_000446.1:p.Asn247Ile NC_000019.10:1221217:A:T p.(Asn247Ile) NC_000019.10:1221217:A:T p.(Asn247Ile) NC_000019.10:1221217:A:T Identity +NM_000051.4:c.4271A>G NP_000042.3:p.Glu1424Gly NC_000011.10:108289635:A:G p.(Glu1424Gly) NC_000011.10:108289635:A:G p.(Glu1424Gly) NC_000011.10:108289635:A:G Identity +NM_001029882.3:c.2380C>T NP_001025053.1:p.Gln794Ter NC_000001.11:27549735:G:A p.(Gln794Ter) NC_000001.11:27549735:G:A p.(Gln794Ter) NC_000001.11:27549735:G:A Identity +NM_001130438.3:c.6027T>G NP_001123910.1:p.Tyr2009Ter NC_000009.12:128625136:T:G p.(Tyr2009Ter) NC_000009.12:128625136:T:G p.(Tyr2009Ter) NC_000009.12:128625136:T:G Identity +NM_000465.4:c.1495C>A NP_000456.2:p.His499Asn NC_000002.12:214767554:G:T p.(His499Asn) NC_000002.12:214767554:G:T p.(His499Asn) NC_000002.12:214767554:G:T Identity +NM_000465.4:c.1537T>A NP_000456.2:p.Leu513Ile NC_000002.12:214767512:A:T p.(Leu513Ile) NC_000002.12:214767512:A:T p.(Leu513Ile) NC_000002.12:214767512:A:T Identity +NM_000465.4:c.373G>T NP_000456.2:p.Glu125Ter NC_000002.12:214781500:C:A p.(Glu125Ter) NC_000002.12:214781500:C:A p.(Glu125Ter) NC_000002.12:214781500:C:A Identity +NM_000455.5:c.1165G>T NP_000446.1:p.Ala389Ser NC_000019.10:1226509:G:T p.(Ala389Ser) NC_000019.10:1226509:G:T p.(Ala389Ser) NC_000019.10:1226509:G:T Identity +NM_001254740.2:c.949A>C NP_001241669.1:p.Ser317Arg NC_000015.10:65652725:A:C p.(Ser317Arg) NC_000015.10:65652725:A:C p.(Ser317Arg) NC_000015.10:65652725:A:C Identity +NM_001354902.2:c.5108A>G NP_001341831.1:p.Asp1703Gly NC_000005.10:112840974:A:G p.(Asp1703Gly) NC_000005.10:112840974:A:G p.(Asp1703Gly) NC_000005.10:112840974:A:G Identity +NM_015335.5:c.3469C>T NP_056150.1:p.Gln1157Ter NC_000012.12:115991484:G:A p.(Gln1157Ter) NC_000012.12:115991484:G:A p.(Gln1157Ter) NC_000012.12:115991484:G:A Identity +NM_004996.4:c.1299G>T NP_004987.2:p.Arg433Ser NC_000016.10:16048221:G:T p.(Arg433Ser) NC_000016.10:16048221:G:T p.(Arg433Ser) NC_000016.10:16048221:G:T Identity +NM_000038.6:c.3463G>A NP_000029.2:p.Glu1155Lys NC_000005.10:112839056:G:A p.(Glu1155Lys) NC_000005.10:112839056:G:A p.(Glu1155Lys) NC_000005.10:112839056:G:A Identity +NM_000038.6:c.4802T>C NP_000029.2:p.Leu1601Ser NC_000005.10:112840395:T:C p.(Leu1601Ser) NC_000005.10:112840395:T:C p.(Leu1601Ser) NC_000005.10:112840395:T:C Identity +NM_000038.6:c.7069A>G NP_000029.2:p.Lys2357Glu NC_000005.10:112842662:A:G p.(Lys2357Glu) NC_000005.10:112842662:A:G p.(Lys2357Glu) NC_000005.10:112842662:A:G Identity +NM_004329.3:c.1462A>G NP_004320.2:p.Asn488Asp NC_000010.11:86923494:A:G p.(Asn488Asp) NC_000010.11:86923494:A:G p.(Asn488Asp) NC_000010.11:86923494:A:G Identity +NM_001407571.1:c.918C>G NP_001394500.1:p.Ser306Arg NC_000017.11:43094399:G:C p.(Ser306Arg) NC_000017.11:43094399:G:C p.(Ser306Arg) NC_000017.11:43094399:G:C Identity +NM_000059.4:c.10049A>G NP_000050.3:p.Gln3350Arg NC_000013.11:32398561:A:G p.(Gln3350Arg) NC_000013.11:32398561:A:G p.(Gln3350Arg) NC_000013.11:32398561:A:G Identity +NM_000059.4:c.6659A>G NP_000050.3:p.Glu2220Gly NC_000013.11:32341013:A:G p.(Glu2220Gly) NC_000013.11:32341013:A:G p.(Glu2220Gly) NC_000013.11:32341013:A:G Identity +NM_032043.3:c.2750G>A NP_114432.2:p.Ser917Asn NC_000017.11:61685990:C:T p.(Ser917Asn) NC_000017.11:61685990:C:T p.(Ser917Asn) NC_000017.11:61685990:C:T Identity +NM_000249.4:c.1057G>A NP_000240.1:p.Ala353Thr NC_000003.12:37025654:G:A p.(Ala353Thr) NC_000003.12:37025654:G:A p.(Ala353Thr) NC_000003.12:37025654:G:A Identity +NM_000038.6:c.6710G>A NP_000029.2:p.Arg2237Gln NC_000005.10:112842303:G:A p.(Arg2237Gln) NC_000005.10:112842303:G:A p.(Arg2237Gln) NC_000005.10:112842303:G:A Identity +NM_000051.4:c.4831C>G NP_000042.3:p.Leu1611Val NC_000011.10:108294980:C:G p.(Leu1611Val) NC_000011.10:108294980:C:G p.(Leu1611Val) NC_000011.10:108294980:C:G Identity +NM_004656.4:c.1421C>T NP_004647.1:p.Pro474Leu NC_000003.12:52403723:G:A p.(Pro474Leu) NC_000003.12:52403723:G:A p.(Pro474Leu) NC_000003.12:52403723:G:A Identity +NM_001407571.1:c.3700G>C NP_001394500.1:p.Asp1234His NC_000017.11:43091617:C:G p.(Asp1234His) NC_000017.11:43091617:C:G p.(Asp1234His) NC_000017.11:43091617:C:G Identity +NM_032043.3:c.1691T>C NP_114432.2:p.Ile564Thr NC_000017.11:61780942:A:G p.(Ile564Thr) NC_000017.11:61780942:A:G p.(Ile564Thr) NC_000017.11:61780942:A:G Identity +NM_001317184.2:c.592G>A NP_001304113.1:p.Asp198Asn NC_000016.10:68808752:G:A p.(Asp198Asn) NC_000016.10:68808752:G:A p.(Asp198Asn) NC_000016.10:68808752:G:A Identity +NM_000179.3:c.1832G>A NP_000170.1:p.Ser611Asn NC_000002.12:47799814:G:A p.(Ser611Asn) NC_000002.12:47799814:G:A p.(Ser611Asn) NC_000002.12:47799814:G:A Identity +NM_000314.8:c.741_742dup NP_000305.3:p.Pro248fs NC_000010.11:87957958:AC:ACAC p.(Pro248HisfsTer9) NC_000010.11:87957958:AC:ACAC p.(Pro248HisfsTer9) ERR:SPDI Analogous +NM_024675.4:c.97G>A NP_078951.2:p.Ala33Thr NC_000016.10:23638080:C:T p.(Ala33Thr) NC_000016.10:23638080:C:T p.(Ala33Thr) NC_000016.10:23638080:C:T Identity +NM_002876.4:c.329T>G NP_002867.1:p.Ile110Ser NC_000017.11:58695113:T:G p.(Ile110Ser) NC_000017.11:58695113:T:G p.(Ile110Ser) NC_000017.11:58695113:T:G Identity +NM_000038.6:c.673G>A NP_000029.2:p.Glu225Lys NC_000005.10:112792472:G:A p.(Glu225Lys) NC_000005.10:112792472:G:A p.(Glu225Lys) NC_000005.10:112792472:G:A Identity +NM_000051.4:c.4663C>T NP_000042.3:p.Leu1555Phe NC_000011.10:108293363:C:T p.(Leu1555Phe) NC_000011.10:108293363:C:T p.(Leu1555Phe) NC_000011.10:108293363:C:T Identity +NM_004656.4:c.1168C>A NP_004647.1:p.Pro390Thr NC_000003.12:52404534:G:T p.(Pro390Thr) NC_000003.12:52404534:G:T p.(Pro390Thr) NC_000003.12:52404534:G:T Identity +NM_000179.3:c.3434G>C NP_000170.1:p.Arg1145Thr NC_000002.12:47803680:G:C p.(Arg1145Thr) NC_000002.12:47803680:G:C p.(Arg1145Thr) NC_000002.12:47803680:G:C Identity +NM_001024688.3:c.916A>G NP_001019859.1:p.Lys306Glu NC_000008.11:89955517:T:C p.(Lys306Glu) NC_000008.11:89955517:T:C p.(Lys306Glu) NC_000008.11:89955517:T:C Identity +NM_000455.5:c.311G>A NP_000446.1:p.Arg104Lys NC_000019.10:1218436:G:A p.(Arg104Lys) NC_000019.10:1218436:G:A p.(Arg104Lys) NC_000019.10:1218436:G:A Identity +NM_000059.4:c.8029G>T NP_000050.3:p.Glu2677Ter NC_000013.11:32363230:G:T p.(Glu2677Ter) NC_000013.11:32363230:G:T p.(Glu2677Ter) NC_000013.11:32363230:G:T Identity +NM_000059.4:c.9810dup NP_000050.3:p.Asp3272fs NC_000013.11:32398321:CC:CCC p.(Asp3272GlyfsTer5) NC_000013.11:32398321:CC:CCC p.(Asp3272GlyfsTer5) ERR:SPDI Analogous +NM_024675.4:c.1032_1033dup NP_078951.2:p.Leu345fs NC_000016.10:23635512:AG:AGAG p.(Leu345SerfsTer2) NC_000016.10:23635512:AG:AGAG p.(Leu345SerfsTer2) ERR:SPDI Analogous +NM_024675.4:c.1148T>C NP_078951.2:p.Leu383Pro NC_000016.10:23635397:A:G p.(Leu383Pro) NC_000016.10:23635397:A:G p.(Leu383Pro) NC_000016.10:23635397:A:G Identity +NM_001365999.1:c.8711G>A NP_001352928.1:p.Arg2904His NC_000001.11:43443681:G:A p.(Arg2904His) NC_000001.11:43443681:G:A p.(Arg2904His) NC_000001.11:43443681:G:A Identity +NM_022124.6:c.4625G>A NP_071407.4:p.Gly1542Asp NC_000010.11:71741700:G:A p.(Gly1542Asp) NC_000010.11:71741700:G:A p.(Gly1542Asp) NC_000010.11:71741700:G:A Identity +NM_001171.6:c.2059G>A NP_001162.5:p.Val687Met NC_000016.10:16182814:C:T p.(Val687Met) NC_000016.10:16182814:C:T p.(Val687Met) NC_000016.10:16182814:C:T Identity +NM_001079528.4:c.179G>A NP_001072996.1:p.Arg60Gln NC_000016.10:16221688:C:T p.(Arg60Gln) NC_000016.10:16221688:C:T p.(Arg60Gln) NC_000016.10:16221688:C:T Identity +NM_016239.4:c.3647G>A NP_057323.3:p.Arg1216His NC_000017.11:18124519:G:A p.(Arg1216His) NC_000017.11:18124519:G:A p.(Arg1216His) NC_000017.11:18124519:G:A Identity +NM_000038.6:c.1458_1459inv NP_000029.2:p.Gly487Arg NC_000005.10:112827156:TG:CA p.(Gly487Arg) NC_000005.10:112827156:TG:CA p.(Gly487Arg) ERR:SPDI Identity +NM_000038.6:c.4667C>A NP_000029.2:p.Thr1556Asn NC_000005.10:112840260:C:A p.(Thr1556Asn) NC_000005.10:112840260:C:A p.(Thr1556Asn) NC_000005.10:112840260:C:A Identity +NM_000051.4:c.5204C>G NP_000042.3:p.Thr1735Ser NC_000011.10:108301673:C:G p.(Thr1735Ser) NC_000011.10:108301673:C:G p.(Thr1735Ser) NC_000011.10:108301673:C:G Identity +NM_001353108.3:c.1474G>T NP_001340037.1:p.Glu492Ter NC_000003.12:134558147:G:T p.(Glu492Ter) NC_000003.12:134558147:G:T p.(Glu492Ter) NC_000003.12:134558147:G:T Identity +NM_021072.4:c.185A>T NP_066550.2:p.Asp62Val NC_000005.10:45695908:T:A p.(Asp62Val) NC_000005.10:45695908:T:A p.(Asp62Val) NC_000005.10:45695908:T:A Identity +NM_001002838.4:c.4190C>A NP_001002838.1:p.Ala1397Asp NC_000023.11:54237234:G:T p.(Ala1397Asp) NC_000023.11:54237234:G:T p.(Ala1397Asp) NC_000023.11:54237234:G:T Identity +NM_000061.3:c.371G>A NP_000052.1:p.Trp124Ter NC_000023.11:101370017:C:T p.(Trp124Ter) NC_000023.11:101370017:C:T p.(Trp124Ter) NC_000023.11:101370017:C:T Identity +NM_000059.4:c.9266C>T NP_000050.3:p.Pro3089Leu NC_000013.11:32394697:C:T p.(Pro3089Leu) NC_000013.11:32394697:C:T p.(Pro3089Leu) NC_000013.11:32394697:C:T Identity +NM_000455.5:c.1267A>G NP_000446.1:p.Lys423Glu NC_000019.10:1226611:A:G p.(Lys423Glu) NC_000019.10:1226611:A:G p.(Lys423Glu) NC_000019.10:1226611:A:G Identity +NM_000251.3:c.839del NP_000242.1:p.Leu280fs NC_000002.12:47414313:TT:T p.(Leu280TyrfsTer12) NC_000002.12:47414313:TT:T p.(Leu280TyrfsTer12) NC_000002.12:47414314:T: Analogous +NM_000546.6:c.469_476del NP_000537.3:p.Val157fs NC_000017.11:7675135:GCGCGGACGCG:GCG p.(Val157HisfsTer21) NC_000017.11:7675135:GCGCGGACGCG:GCG p.(Val157HisfsTer21) NC_000017.11:7675135:GCGCGGAC: Analogous +NM_000138.5:c.7099G>A NP_000129.3:p.Gly2367Arg NC_000015.10:48427671:C:T p.(Gly2367Arg) NC_000015.10:48427671:C:T p.(Gly2367Arg) NC_000015.10:48427671:C:T Identity +NM_001999.4:c.2392G>A NP_001990.2:p.Gly798Ser NC_000005.10:128364635:C:T p.(Gly798Ser) NC_000005.10:128364635:C:T p.(Gly798Ser) NC_000005.10:128364635:C:T Identity +NM_000536.4:c.1321C>A NP_000527.2:p.Pro441Thr NC_000011.10:36592847:G:T p.(Pro441Thr) NC_000011.10:36592847:G:T p.(Pro441Thr) NC_000011.10:36592847:G:T Identity +NM_001297609.2:c.3757del NP_001284538.1:p.Arg1253fs NC_000001.11:27355675:GGG:GG p.(Arg1253AlafsTer31) NC_000001.11:27355675:GGG:GG p.(Arg1253AlafsTer31) NC_000001.11:27355675:G: Analogous +LRG_144t1:c.1984G>A LRG_144p1:p.Val662Ile NC_000001.11:36467285:C:T ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_000052.7:c.4310A>G NP_000043.4:p.His1437Arg NC_000023.11:78046376:A:G p.(His1437Arg) NC_000023.11:78046376:A:G p.(His1437Arg) NC_000023.11:78046376:A:G Identity +NM_006218.4:c.3074C>G NP_006209.2:p.Thr1025Ser NC_000003.12:179234230:C:G p.(Thr1025Ser) NC_000003.12:179234230:C:G p.(Thr1025Ser) NC_000003.12:179234230:C:G Identity +NM_000179.3:c.3251A>G NP_000170.1:p.Asp1084Gly NC_000002.12:47803497:A:G p.(Asp1084Gly) NC_000002.12:47803497:A:G p.(Asp1084Gly) NC_000002.12:47803497:A:G Identity +NM_006516.4:c.1033_1042del NP_006507.2:p.Ala345fs NC_000001.11:42928963:CACAACCCGCCA:CA p.(Ala345ProfsTer4) NC_000001.11:42928963:CACAACCCGCCA:CA p.(Ala345ProfsTer4) NC_000001.11:42928963:CACAACCCGC: Analogous +NM_000059.4:c.2213G>A NP_000050.3:p.Cys738Tyr NC_000013.11:32336567:G:A p.(Cys738Tyr) NC_000013.11:32336567:G:A p.(Cys738Tyr) NC_000013.11:32336567:G:A Identity +NM_001322015.2:c.38C>T NP_001308944.1:p.Ser13Phe NC_000007.14:6002642:G:A p.(Ser13Phe) NC_000007.14:6002642:G:A p.(Ser13Phe) NC_000007.14:6002642:G:A Identity +NM_000535.7:c.712del NP_000526.2:p.Ser238fs NC_000007.14:5997416:TTT:TT p.(Ser238AlafsTer20) NC_000007.14:5997416:TTT:TT p.(Ser238AlafsTer20) NC_000007.14:5997416:T: Analogous +NM_000350.3:c.88G>A NP_000341.2:p.Val30Met NC_000001.11:94113044:C:T p.(Val30Met) NC_000001.11:94113044:C:T p.(Val30Met) NC_000001.11:94113044:C:T Identity +NM_000336.3:c.278C>G NP_000327.2:p.Pro93Arg NC_000016.10:23348876:C:G p.(Pro93Arg) NC_000016.10:23348876:C:G p.(Pro93Arg) NC_000016.10:23348876:C:G Identity +NM_001165963.4:c.3347C>A NP_001159435.1:p.Pro1116Gln NC_000002.12:166036129:G:T p.(Pro1116Gln) NC_000002.12:166036129:G:T p.(Pro1116Gln) NC_000002.12:166036129:G:T Identity +NM_001848.3:c.1021G>C NP_001839.2:p.Gly341Arg NC_000021.9:45990790:G:C p.(Gly341Arg) NC_000021.9:45990790:G:C p.(Gly341Arg) NC_000021.9:45990790:G:C Identity +NM_000093.5:c.4748C>T NP_000084.3:p.Thr1583Met NC_000009.12:134824648:C:T p.(Thr1583Met) NC_000009.12:134824648:C:T p.(Thr1583Met) NC_000009.12:134824648:C:T Identity +NM_000280.6:c.538C>T NP_000271.1:p.Gln180Ter NC_000011.10:31794773:G:A p.(Gln180Ter) NC_000011.10:31794773:G:A p.(Gln180Ter) NC_000011.10:31794773:G:A Identity +NM_000169.3:c.1055_1056del NP_000160.1:p.Ala352fs NC_000023.11:101398042:AG: p.(Ala352AspfsTer22) NC_000023.11:101398042:AG: p.(Ala352AspfsTer22) NC_000023.11:101398042:AG: Analogous +NM_000384.3:c.10848del NP_000375.3:p.Gly3617fs NC_000002.12:21006019:AA:A p.(Gly3617AlafsTer6) NC_000002.12:21006019:AA:A p.(Gly3617AlafsTer6) NC_000002.12:21006019:A: Analogous +NM_000492.4:c.4027G>A NP_000483.3:p.Gly1343Ser NC_000007.14:117664750:G:A p.(Gly1343Ser) NC_000007.14:117664750:G:A p.(Gly1343Ser) NC_000007.14:117664750:G:A Identity +NM_001004426.3:c.16C>T NP_001004426.1:p.Arg6Cys NC_000022.11:38169410:G:A p.(Arg6Cys) NC_000022.11:38169410:G:A p.(Arg6Cys) NC_000022.11:38169410:G:A Identity +NM_032119.4:c.16658C>A NP_115495.3:p.Ala5553Asp NC_000005.10:90840623:C:A p.(Ala5553Asp) NC_000005.10:90840623:C:A p.(Ala5553Asp) NC_000005.10:90840623:C:A Identity +NM_001142800.2:c.1472A>C NP_001136272.1:p.Glu491Ala NC_000006.12:65344164:T:G p.(Glu491Ala) NC_000006.12:65344164:T:G p.(Glu491Ala) NC_000006.12:65344164:T:G Identity +NM_001286130.2:c.2483G>A NP_001273059.1:p.Arg828His NC_000016.10:57904866:C:T p.(Arg828His) NC_000016.10:57904866:C:T p.(Arg828His) NC_000016.10:57904866:C:T Identity +NM_001286527.3:c.2525C>T NP_001273456.2:p.Ala842Val NC_000016.10:84460757:C:T p.(Ala842Val) NC_000016.10:84460757:C:T p.(Ala842Val) NC_000016.10:84460757:C:T Identity +NM_001081676.2:c.95A>G NP_001075145.1:p.Glu32Gly NC_000002.12:165176299:T:C p.(Glu32Gly) NC_000002.12:165176299:T:C p.(Glu32Gly) NC_000002.12:165176299:T:C Identity +LRG_322t1:c.345C>G LRG_322p1:p.His115Gln NC_000003.12:10146517:C:G ERR:Data provider error: ValueError: Transcript LRG_322t1 not found ERR:Data provider error: ValueError: Transcript LRG_322t1 not found ERR:AlignmentMapper(tx_ac=LRG_322t1, alt_ac=LRG_322t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_322t1, alt_ac=LRG_322t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_322t1 not found +NM_001024847.3:c.1546G>A NP_001020018.1:p.Val516Met NC_000003.12:30688457:G:A p.(Val516Met) NC_000003.12:30688457:G:A p.(Val516Met) NC_000003.12:30688457:G:A Identity +NM_001407681.1:c.3938A>G NP_001394610.1:p.Asn1313Ser NC_000017.11:43091469:T:C p.(Asn1313Ser) NC_000017.11:43091469:T:C p.(Asn1313Ser) NC_000017.11:43091469:T:C Identity +LRG_430t1:c.819C>G LRG_430p1:p.Ile273Met NC_000007.14:151595389:G:C ERR:Data provider error: ValueError: Transcript LRG_430t1 not found ERR:Data provider error: ValueError: Transcript LRG_430t1 not found ERR:AlignmentMapper(tx_ac=LRG_430t1, alt_ac=LRG_430t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_430t1, alt_ac=LRG_430t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_430t1 not found +NM_001040142.2:c.5117G>C NP_001035232.1:p.Cys1706Ser NC_000002.12:165388922:G:C p.(Cys1706Ser) NC_000002.12:165388922:G:C p.(Cys1706Ser) NC_000002.12:165388922:G:C Identity +NM_001453.3:c.409_411del NP_001444.2:p.Val137del NC_000006.12:1610851:TCGTC:TC p.(Val137del) NC_000006.12:1610851:TCGTC:TC p.(Val137del) NC_000006.12:1610853:GTC: Identity +NM_000016.6:c.1046G>T NP_000007.1:p.Arg349Leu NC_000001.11:75761221:G:T p.(Arg349Leu) NC_000001.11:75761221:G:T p.(Arg349Leu) NC_000001.11:75761221:G:T Identity +NM_000059.4:c.4958C>T NP_000050.3:p.Thr1653Ile NC_000013.11:32339312:C:T p.(Thr1653Ile) NC_000013.11:32339312:C:T p.(Thr1653Ile) NC_000013.11:32339312:C:T Identity +NM_000075.4:c.868C>A NP_000066.1:p.Leu290Met NC_000012.12:57748568:G:T p.(Leu290Met) NC_000012.12:57748568:G:T p.(Leu290Met) NC_000012.12:57748568:G:T Identity +NM_138694.4:c.8012G>A NP_619639.3:p.Arg2671Gln NC_000006.12:51847869:C:T p.(Arg2671Gln) NC_000006.12:51847869:C:T p.(Arg2671Gln) NC_000006.12:51847869:C:T Identity +NM_000799.4:c.33del NP_000790.2:p.Trp11fs NC_000007.14:100721575:GG:G p.(Trp11CysfsTer52) NC_000007.14:100721575:GG:G p.(Trp11CysfsTer52) NC_000007.14:100721576:G: Analogous +NM_000799.4:c.20del NP_000790.2:p.Pro7fs NC_000007.14:100721562:CC:C p.(Pro7LeufsTer56) NC_000007.14:100721562:CC:C p.(Pro7LeufsTer56) NC_000007.14:100721563:C: Analogous +NM_001199397.3:c.2434A>T NP_001186326.1:p.Arg812Ter NC_000004.12:169477123:T:A p.(Arg812Ter) NC_000004.12:169477123:T:A p.(Arg812Ter) NC_000004.12:169477123:T:A Identity +NM_001291593.2:c.1401_1405dup NP_001278522.1:p.His469fs NC_000001.11:5874973:GGAGCG:GGAGCGGAGCG p.(His469ArgfsTer26) NC_000001.11:5874973:GGAGCG:GGAGCGGAGCG p.(His469ArgfsTer26) ERR:SPDI Analogous +NM_001256850.1:c.28834G>A NP_001243779.1:p.Glu9612Lys NC_000002.12:178704686:C:T p.(Glu9612Lys) NC_000002.12:178704686:C:T p.(Glu9612Lys) NC_000002.12:178704686:C:T Identity +NM_001256850.1:c.83136C>A NP_001243779.1:p.Ser27712Arg NC_000002.12:178557094:G:T p.(Ser27712Arg) NC_000002.12:178557094:G:T p.(Ser27712Arg) NC_000002.12:178557094:G:T Identity +NM_033071.5:c.516C>A NP_149062.2:p.Ser172Arg NC_000006.12:152510278:G:T p.(Ser172Arg) NC_000006.12:152510278:G:T p.(Ser172Arg) NC_000006.12:152510278:G:T Identity +NM_001256850.1:c.27323C>T NP_001243779.1:p.Pro9108Leu NC_000002.12:178710822:G:A p.(Pro9108Leu) NC_000002.12:178710822:G:A p.(Pro9108Leu) NC_000002.12:178710822:G:A Identity +NM_000169.3:c.59_72dup NP_000160.1:p.Asp25fs NC_000023.11:101407831:CCAGGAAACGAGGGCCAGGAA:CCAGGAAACGAGGGCCAGGAAACGAGGGCCAGGAA p.(Asp25ProfsTer101) NC_000023.11:101407831:CCAGGAAACGAGGGCCAGGAA:CCAGGAAACGAGGGCCAGGAAACGAGGGCCAGGAA p.(Asp25ProfsTer101) ERR:SPDI Analogous +NM_000179.3:c.1076G>A NP_000170.1:p.Ser359Asn NC_000002.12:47799058:G:A p.(Ser359Asn) NC_000002.12:47799058:G:A p.(Ser359Asn) NC_000002.12:47799058:G:A Identity +NM_000138.5:c.4607del NP_000129.3:p.Leu1536fs NC_000015.10:48468077:AAA:AA p.(Leu1536TrpfsTer45) NC_000015.10:48468077:AAA:AA p.(Leu1536TrpfsTer45) NC_000015.10:48468077:A: Analogous +NM_000251.3:c.2729A>G NP_000242.1:p.Gln910Arg NC_000002.12:47482872:A:G p.(Gln910Arg) NC_000002.12:47482872:A:G p.(Gln910Arg) NC_000002.12:47482872:A:G Identity +NM_000377.3:c.290G>A NP_000368.1:p.Trp97Ter NC_000023.11:48685562:G:A p.(Trp97Ter) NC_000023.11:48685562:G:A p.(Trp97Ter) NC_000023.11:48685562:G:A Identity +NM_198525.3:c.490C>G NP_940927.2:p.Arg164Gly NC_000015.10:89649779:G:C p.(Arg164Gly) NC_000015.10:89649779:G:C p.(Arg164Gly) NC_000015.10:89649779:G:C Identity +NM_000492.4:c.1600G>T NP_000483.3:p.Ala534Ser NC_000007.14:117587753:G:T p.(Ala534Ser) NC_000007.14:117587753:G:T p.(Ala534Ser) NC_000007.14:117587753:G:T Identity +NM_000152.5:c.1324G>A NP_000143.2:p.Val442Met NC_000017.11:80108825:G:A p.(Val442Met) NC_000017.11:80108825:G:A p.(Val442Met) NC_000017.11:80108825:G:A Identity +NM_018848.3:c.67A>G NP_061336.1:p.Arg23Gly NC_000020.11:10413447:T:C p.(Arg23Gly) NC_000020.11:10413447:T:C p.(Arg23Gly) NC_000020.11:10413447:T:C Identity +NM_000109.4:c.9913T>A NP_000100.3:p.Cys3305Ser NC_000023.11:31182774:A:T p.(Cys3305Ser) NC_000023.11:31182774:A:T p.(Cys3305Ser) NC_000023.11:31182774:A:T Identity +NM_000492.4:c.416A>C NP_000483.3:p.His139Pro NC_000007.14:117531040:A:C p.(His139Pro) NC_000007.14:117531040:A:C p.(His139Pro) NC_000007.14:117531040:A:C Identity +NM_000492.4:c.571T>G NP_000483.3:p.Phe191Val NC_000007.14:117534356:T:G p.(Phe191Val) NC_000007.14:117534356:T:G p.(Phe191Val) NC_000007.14:117534356:T:G Identity +NM_000527.5:c.1577C>A NP_000518.1:p.Pro526His NC_000019.10:11113752:C:A p.(Pro526His) NC_000019.10:11113752:C:A p.(Pro526His) NC_000019.10:11113752:C:A Identity +NM_000527.5:c.1867dup NP_000518.1:p.Ile623fs NC_000019.10:11120112:A:AA p.(Ile623AsnfsTer22) NC_000019.10:11120112:A:AA p.(Ile623AsnfsTer22) ERR:SPDI Analogous +LRG_332t1:c.905A>G LRG_332p1:p.Glu302Gly NC_000020.11:33412578:T:C ERR:Data provider error: ValueError: Transcript LRG_332t1 not found ERR:Data provider error: ValueError: Transcript LRG_332t1 not found ERR:AlignmentMapper(tx_ac=LRG_332t1, alt_ac=LRG_332t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_332t1, alt_ac=LRG_332t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_332t1 not found +NM_001280787.1:c.304_305del NP_001267716.1:p.Glu102fs NC_000009.12:133352564:TCT:T p.(Glu102AsnfsTer8) NC_000009.12:133352564:TCT:T p.(Glu102AsnfsTer8) NC_000009.12:133352564:TC: Analogous +NM_003280.3:c.305G>T NP_003271.1:p.Arg102Leu NC_000003.12:52451755:C:A p.(Arg102Leu) NC_000003.12:52451755:C:A p.(Arg102Leu) NC_000003.12:52451755:C:A Identity +NM_001008844.3:c.163G>T NP_001008844.1:p.Gly55Cys NC_000006.12:7542077:G:T p.(Gly55Cys) NC_000006.12:7542077:G:T p.(Gly55Cys) NC_000006.12:7542077:G:T Identity +NM_000023.4:c.662G>C NP_000014.1:p.Arg221Pro NC_000017.11:50169168:G:C p.(Arg221Pro) NC_000017.11:50169168:G:C p.(Arg221Pro) NC_000017.11:50169168:G:C Identity +NM_001384732.1:c.8242G>A NP_001371661.1:p.Ala2748Thr NC_000005.10:37153870:C:T p.(Ala2748Thr) NC_000005.10:37153870:C:T p.(Ala2748Thr) NC_000005.10:37153870:C:T Identity +NM_000784.4:c.1436G>A NP_000775.1:p.Arg479His NC_000002.12:218814716:G:A p.(Arg479His) NC_000002.12:218814716:G:A p.(Arg479His) NC_000002.12:218814716:G:A Identity +NM_001407852.1:c.2108T>C NP_001394781.1:p.Leu703Pro NC_000017.11:43093281:A:G p.(Leu703Pro) NC_000017.11:43093281:A:G p.(Leu703Pro) NC_000017.11:43093281:A:G Identity +NM_005502.4:c.6181G>A NP_005493.2:p.Gly2061Ser NC_000009.12:104787942:C:T p.(Gly2061Ser) NC_000009.12:104787942:C:T p.(Gly2061Ser) NC_000009.12:104787942:C:T Identity +NM_001080522.2:c.2774G>A NP_001073991.2:p.Arg925Gln NC_000004.12:15557451:G:A p.(Arg925Gln) NC_000004.12:15557451:G:A p.(Arg925Gln) NC_000004.12:15557451:G:A Identity +NM_001943.5:c.2471G>A NP_001934.2:p.Arg824His NC_000018.10:31545856:G:A p.(Arg824His) NC_000018.10:31545856:G:A p.(Arg824His) NC_000018.10:31545856:G:A Identity +NM_000393.5:c.985A>G NP_000384.2:p.Met329Val NC_000002.12:189079082:T:C p.(Met329Val) NC_000002.12:189079082:T:C p.(Met329Val) NC_000002.12:189079082:T:C Identity +NM_001363676.1:c.425T>C NP_001350605.1:p.Leu142Pro NC_000007.14:157409872:T:C p.(Leu142Pro) NC_000007.14:157409872:T:C p.(Leu142Pro) NC_000007.14:157409872:T:C Identity +NM_000445.5:c.6101C>T NP_000436.2:p.Ala2034Val NC_000008.11:143923908:G:A p.(Ala2034Val) NC_000008.11:143923908:G:A p.(Ala2034Val) NC_000008.11:143923908:G:A Identity +NM_001256850.1:c.28282G>A NP_001243779.1:p.Val9428Ile NC_000002.12:178706640:C:T p.(Val9428Ile) NC_000002.12:178706640:C:T p.(Val9428Ile) NC_000002.12:178706640:C:T Identity +NM_000784.4:c.256G>A NP_000775.1:p.Val86Met NC_000002.12:218809576:G:A p.(Val86Met) NC_000002.12:218809576:G:A p.(Val86Met) NC_000002.12:218809576:G:A Identity +NM_004369.4:c.8794C>T NP_004360.2:p.Pro2932Ser NC_000002.12:237336305:G:A p.(Pro2932Ser) NC_000002.12:237336305:G:A p.(Pro2932Ser) NC_000002.12:237336305:G:A Identity +NM_001927.4:c.1148G>A NP_001918.3:p.Arg383His NC_000002.12:219421463:G:A p.(Arg383His) NC_000002.12:219421463:G:A p.(Arg383His) NC_000002.12:219421463:G:A Identity +NM_001195622.2:c.1535C>A NP_001182551.1:p.Ser512Tyr NC_000009.12:32542794:G:T p.(Ser512Tyr) NC_000009.12:32542794:G:T p.(Ser512Tyr) NC_000009.12:32542794:G:T Identity +NM_001142929.2:c.479CCT[1] NP_001136401.2:p.Ser161del NC_000010.11:49625550:CTCCTCCT:CTCCT p.(Ser161del) NC_000010.11:49625552:C:CCT ERR:Parse ERR:Parse Identity +NM_001029883.3:c.2191G>A NP_001025054.1:p.Val731Ile NC_000002.12:29072070:C:T p.(Val731Ile) NC_000002.12:29072070:C:T p.(Val731Ile) NC_000002.12:29072070:C:T Identity +NM_201383.3:c.7549A>G NP_958785.1:p.Lys2517Glu NC_000008.11:143922283:T:C p.(Lys2517Glu) NC_000008.11:143922283:T:C p.(Lys2517Glu) NC_000008.11:143922283:T:C Identity +NM_004463.3:c.577C>T NP_004454.2:p.Arg193Ter NC_000023.11:54470664:G:A p.(Arg193Ter) NC_000023.11:54470664:G:A p.(Arg193Ter) NC_000023.11:54470664:G:A Identity +NM_000137.4:c.1204C>T NP_000128.1:p.Arg402Cys NC_000015.10:80186152:C:T p.(Arg402Cys) NC_000015.10:80186152:C:T p.(Arg402Cys) NC_000015.10:80186152:C:T Identity +NM_000096.4:c.716A>T NP_000087.2:p.Tyr239Phe NC_000003.12:149209275:T:A p.(Tyr239Phe) NC_000003.12:149209275:T:A p.(Tyr239Phe) NC_000003.12:149209275:T:A Identity +NM_001256105.1:c.59C>T NP_001243034.1:p.Ser20Phe NC_000003.12:55480820:G:A p.(Ser20Phe) NC_000003.12:55480820:G:A p.(Ser20Phe) NC_000003.12:55480820:G:A Identity +NM_001142800.2:c.6229G>A NP_001136272.1:p.Val2077Ile NC_000006.12:64230786:C:T p.(Val2077Ile) NC_000006.12:64230786:C:T p.(Val2077Ile) NC_000006.12:64230786:C:T Identity +NM_019075.4:c.1546G>A NP_061948.1:p.Gly516Arg NC_000002.12:233772511:G:A p.(Gly516Arg) NC_000002.12:233772511:G:A p.(Gly516Arg) NC_000002.12:233772511:G:A Identity +NM_000070.3:c.1187A>G NP_000061.1:p.Glu396Gly NC_000015.10:42396870:A:G p.(Glu396Gly) NC_000015.10:42396870:A:G p.(Glu396Gly) NC_000015.10:42396870:A:G Identity +NM_138694.4:c.11002G>T NP_619639.3:p.Asp3668Tyr NC_000006.12:51659123:C:A p.(Asp3668Tyr) NC_000006.12:51659123:C:A p.(Asp3668Tyr) NC_000006.12:51659123:C:A Identity +NM_015384.5:c.5101T>C NP_056199.2:p.Ser1701Pro NC_000005.10:37020548:T:C p.(Ser1701Pro) NC_000005.10:37020548:T:C p.(Ser1701Pro) NC_000005.10:37020548:T:C Identity +NM_001256850.1:c.4945G>A NP_001243779.1:p.Val1649Ile NC_000002.12:178776918:C:T p.(Val1649Ile) NC_000002.12:178776918:C:T p.(Val1649Ile) NC_000002.12:178776918:C:T Identity +NM_001172435.2:c.823C>T NP_001165906.1:p.Pro275Ser NC_000002.12:135124238:C:T p.(Pro275Ser) NC_000002.12:135124238:C:T p.(Pro275Ser) NC_000002.12:135124238:C:T Identity +NM_001130455.2:c.3773G>A NP_001123927.1:p.Trp1258Ter NC_000002.12:71600768:G:A p.(Trp1258Ter) NC_000002.12:71600768:G:A p.(Trp1258Ter) NC_000002.12:71600768:G:A Identity +NM_001101417.4:c.425T>A NP_001094887.1:p.Ile142Asn NC_000007.14:16406169:A:T p.(Ile142Asn) NC_000007.14:16406169:A:T p.(Ile142Asn) NC_000007.14:16406169:A:T Identity +NM_001142777.2:c.257C>T NP_001136249.1:p.Thr86Met NC_000016.10:30986138:C:T p.(Thr86Met) NC_000016.10:30986138:C:T p.(Thr86Met) NC_000016.10:30986138:C:T Identity +NM_001260492.2:c.564G>C NP_001247421.1:p.Met188Ile NC_000011.10:110257900:C:G p.(Met188Ile) NC_000011.10:110257900:C:G p.(Met188Ile) NC_000011.10:110257900:C:G Identity +NM_001291860.2:c.13021G>A NP_001278789.1:p.Val4341Met NC_000001.11:21823473:C:T p.(Val4341Met) NC_000001.11:21823473:C:T p.(Val4341Met) NC_000001.11:21823473:C:T Identity +NM_033071.5:c.17642G>C NP_149062.2:p.Ser5881Thr NC_000006.12:152293744:C:G p.(Ser5881Thr) NC_000006.12:152293744:C:G p.(Ser5881Thr) NC_000006.12:152293744:C:G Identity +NM_001256850.1:c.39190G>A NP_001243779.1:p.Ala13064Thr NC_000002.12:178630844:C:T p.(Ala13064Thr) NC_000002.12:178630844:C:T p.(Ala13064Thr) NC_000002.12:178630844:C:T Identity +NM_015295.3:c.2T>G NP_056110.2:p.Met1Arg NC_000018.10:2656076:T:G p.(Met1Arg) NC_000018.10:2656076:T:G p.Met1? NC_000018.10:2656076:T:G Identity +NM_207361.6:c.8906T>C NP_997244.4:p.Leu2969Pro NC_000013.11:38878876:T:C p.(Leu2969Pro) NC_000013.11:38878876:T:C p.(Leu2969Pro) NC_000013.11:38878876:T:C Identity +NM_000487.6:c.329C>T NP_000478.3:p.Ala110Val NC_000022.11:50627301:G:A p.(Ala110Val) NC_000022.11:50627301:G:A p.(Ala110Val) NC_000022.11:50627301:G:A Identity +NM_001081955.3:c.1859G>A NP_001075424.1:p.Arg620Gln NC_000017.11:65225461:G:A p.(Arg620Gln) NC_000017.11:65225461:G:A p.(Arg620Gln) NC_000017.11:65225461:G:A Identity +NM_001318381.2:c.527A>C NP_001305310.1:p.His176Pro NC_000009.12:100242587:A:C p.(His176Pro) NC_000009.12:100242587:A:C p.(His176Pro) NC_000009.12:100242587:A:C Identity +NM_000082.4:c.299dup NP_000073.1:p.Tyr100Ter NC_000005.10:60918364:T:TT p.(Tyr100Ter) NC_000005.10:60918364:T:TT p.(Tyr100Ter) ERR:SPDI Identity +NM_000271.5:c.1402T>G NP_000262.2:p.Cys468Gly NC_000018.10:23554908:A:C p.(Cys468Gly) NC_000018.10:23554908:A:C p.(Cys468Gly) NC_000018.10:23554908:A:C Identity +NM_000458.4:c.1657C>A NP_000449.1:p.Pro553Thr NC_000017.11:37687388:G:T p.(Pro553Thr) NC_000017.11:37687388:G:T p.(Pro553Thr) NC_000017.11:37687388:G:T Identity +NM_001130455.2:c.4243C>T NP_001123927.1:p.Arg1415Trp NC_000002.12:71612712:C:T p.(Arg1415Trp) NC_000002.12:71612712:C:T p.(Arg1415Trp) NC_000002.12:71612712:C:T Identity +NM_003482.4:c.4813A>T NP_003473.3:p.Met1605Leu NC_000012.12:49044893:T:A p.(Met1605Leu) NC_000012.12:49044893:T:A p.(Met1605Leu) NC_000012.12:49044893:T:A Identity +NM_016239.4:c.1137del NP_057323.3:p.Tyr380fs NC_000017.11:18119933:CCCC:CCC p.(Tyr380MetfsTer64) NC_000017.11:18119933:CCCC:CCC p.(Tyr380MetfsTer64) NC_000017.11:18119936:C: Analogous +NM_005506.4:c.512A>C NP_005497.1:p.His171Pro NC_000004.12:76179616:T:G p.(His171Pro) NC_000004.12:76179616:T:G p.(His171Pro) NC_000004.12:76179616:T:G Identity +NM_138694.4:c.812T>C NP_619639.3:p.Leu271Pro NC_000006.12:52066043:A:G p.(Leu271Pro) NC_000006.12:52066043:A:G p.(Leu271Pro) NC_000006.12:52066043:A:G Identity +LRG_1201t1:c.122A>G LRG_1201p1:p.Lys41Arg NC_000009.12:69216345:A:G ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found +NM_000070.3:c.1714C>G NP_000061.1:p.Arg572Gly NC_000015.10:42402970:C:G p.(Arg572Gly) NC_000015.10:42402970:C:G p.(Arg572Gly) NC_000015.10:42402970:C:G Identity +NM_000047.3:c.715G>A NP_000038.2:p.Ala239Thr NC_000023.11:2949442:C:T p.(Ala239Thr) NC_000023.11:2949442:C:T p.(Ala239Thr) NC_000023.11:2949442:C:T Identity +NM_001378477.3:c.917G>T NP_001365406.2:p.Gly306Val NC_000023.11:41474384:G:T p.(Gly306Val) NC_000023.11:41474384:G:T p.(Gly306Val) NC_000023.11:41474384:G:T Identity +NM_001270950.2:c.748A>G NP_001257879.1:p.Ser250Gly NC_000018.10:62384767:A:G p.(Ser250Gly) NC_000018.10:62384767:A:G p.(Ser250Gly) NC_000018.10:62384767:A:G Identity +NM_016239.4:c.3505C>T NP_057323.3:p.Arg1169Ter NC_000017.11:18122304:C:T p.(Arg1169Ter) NC_000017.11:18122304:C:T p.(Arg1169Ter) NC_000017.11:18122304:C:T Identity +NM_019075.4:c.1450C>T NP_061948.1:p.His484Tyr NC_000002.12:233772415:C:T p.(His484Tyr) NC_000002.12:233772415:C:T p.(His484Tyr) NC_000002.12:233772415:C:T Identity +NM_000445.5:c.8592G>C NP_000436.2:p.Glu2864Asp NC_000008.11:143921309:C:G p.(Glu2864Asp) NC_000008.11:143921309:C:G p.(Glu2864Asp) NC_000008.11:143921309:C:G Identity +NM_001080522.2:c.2885A>G NP_001073991.2:p.Asp962Gly NC_000004.12:15559219:A:G p.(Asp962Gly) NC_000004.12:15559219:A:G p.(Asp962Gly) NC_000004.12:15559219:A:G Identity +NM_006662.3:c.3172C>T NP_006653.2:p.Pro1058Ser NC_000016.10:30720896:C:T p.(Pro1058Ser) NC_000016.10:30720896:C:T p.(Pro1058Ser) NC_000016.10:30720896:C:T Identity +NM_001844.5:c.2159G>A NP_001835.3:p.Gly720Asp NC_000012.12:47982881:C:T p.(Gly720Asp) NC_000012.12:47982881:C:T p.(Gly720Asp) NC_000012.12:47982881:C:T Identity +NM_033071.5:c.6610T>C NP_149062.2:p.Ser2204Pro NC_000006.12:152407147:A:G p.(Ser2204Pro) NC_000006.12:152407147:A:G p.(Ser2204Pro) NC_000006.12:152407147:A:G Identity +NM_005585.5:c.331G>T NP_005576.3:p.Gly111Ter NC_000015.10:66703588:G:T p.(Gly111Ter) NC_000015.10:66703588:G:T p.(Gly111Ter) NC_000015.10:66703588:G:T Identity +NM_000109.4:c.4471C>T NP_000100.3:p.Gln1491Ter NC_000023.11:32389523:G:A p.(Gln1491Ter) NC_000023.11:32389523:G:A p.(Gln1491Ter) NC_000023.11:32389523:G:A Identity +NM_001110556.2:c.7103T>C NP_001104026.1:p.Val2368Ala NC_000023.11:154350961:A:G p.(Val2368Ala) NC_000023.11:154350961:A:G p.(Val2368Ala) NC_000023.11:154350961:A:G Identity +NM_001321038.2:c.1486T>A NP_001307967.1:p.Leu496Ile NC_000001.11:108922461:T:A p.(Leu496Ile) NC_000001.11:108922461:T:A p.(Leu496Ile) NC_000001.11:108922461:T:A Identity +NM_000152.5:c.545C>G NP_000143.2:p.Thr182Arg NC_000017.11:80105130:C:G p.(Thr182Arg) NC_000017.11:80105130:C:G p.(Thr182Arg) NC_000017.11:80105130:C:G Identity +NM_133379.5:c.15716C>T NP_596870.2:p.Ser5239Leu NC_000002.12:178746683:G:A p.(Ser5239Leu) NC_000002.12:178746683:G:A p.(Ser5239Leu) NC_000002.12:178746683:G:A Identity +NM_000350.3:c.1267C>T NP_000341.2:p.His423Tyr NC_000001.11:94078678:G:A p.(His423Tyr) NC_000001.11:94078678:G:A p.(His423Tyr) NC_000001.11:94078678:G:A Identity +NM_000478.6:c.188G>T NP_000469.3:p.Gly63Val NC_000001.11:21561102:G:T p.(Gly63Val) NC_000001.11:21561102:G:T p.(Gly63Val) NC_000001.11:21561102:G:T Identity +LRG_1208t1:c.2056G>A LRG_1208p1:p.Gly686Arg NC_000010.11:99813105:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_004836.7:c.310T>C NP_004827.4:p.Ser104Pro NC_000002.12:88613851:A:G p.(Ser104Pro) NC_000002.12:88613851:A:G p.(Ser104Pro) NC_000002.12:88613851:A:G Identity +NM_000445.5:c.4532A>C NP_000436.2:p.Glu1511Ala NC_000008.11:143925477:T:G p.(Glu1511Ala) NC_000008.11:143925477:T:G p.(Glu1511Ala) NC_000008.11:143925477:T:G Identity +NM_000271.5:c.1210C>T NP_000262.2:p.Arg404Trp NC_000018.10:23556358:G:A p.(Arg404Trp) NC_000018.10:23556358:G:A p.(Arg404Trp) NC_000018.10:23556358:G:A Identity +NM_138694.4:c.6850C>A NP_619639.3:p.His2284Asn NC_000006.12:51904000:G:T p.(His2284Asn) NC_000006.12:51904000:G:T p.(His2284Asn) NC_000006.12:51904000:G:T Identity +NM_005045.4:c.7719G>C NP_005036.2:p.Glu2573Asp NC_000007.14:103519465:C:G p.(Glu2573Asp) NC_000007.14:103519465:C:G p.(Glu2573Asp) NC_000007.14:103519465:C:G Identity +NM_013382.7:c.1141T>C NP_037514.2:p.Tyr381His NC_000014.9:77291355:A:G p.(Tyr381His) NC_000014.9:77291355:A:G p.(Tyr381His) NC_000014.9:77291355:A:G Identity +NM_000443.4:c.1015del NP_000434.1:p.Ser339fs NC_000007.14:87444965:AAAAAAAAA:AAAAAAAA p.(Ser339GlnfsTer3) NC_000007.14:87444965:AAAAAAAAA:AAAAAAAA p.(Ser339GlnfsTer3) NC_000007.14:87444965:A: Analogous +NM_001357321.2:c.1940T>C NP_001344250.1:p.Ile647Thr NC_000002.12:43877833:T:C p.(Ile647Thr) NC_000002.12:43877833:T:C p.(Ile647Thr) NC_000002.12:43877833:T:C Identity +NM_000720.4:c.2527G>A NP_000711.1:p.Val843Met NC_000003.12:53732075:G:A p.(Val843Met) NC_000003.12:53732075:G:A p.(Val843Met) NC_000003.12:53732075:G:A Identity +NM_014510.3:c.1217G>A NP_055325.2:p.Gly406Glu NC_000007.14:83155423:C:T p.(Gly406Glu) NC_000007.14:83155423:C:T p.(Gly406Glu) NC_000007.14:83155423:C:T Identity +NM_001848.3:c.2160dup NP_001839.2:p.Asn721fs NC_000021.9:46002310:C:CC p.(Asn721GlnfsTer9) NC_000021.9:46002310:C:CC p.(Asn721GlnfsTer9) ERR:SPDI Analogous +LRG_1208t1:c.3521G>A LRG_1208p1:p.Arg1174His NC_000010.11:99836196:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001289148.1:c.1165C>T NP_001276077.1:p.Arg389Ter NC_000015.10:91003110:G:A p.(Arg389Ter) NC_000015.10:91003110:G:A p.(Arg389Ter) NC_000015.10:91003110:G:A Identity +NM_001256850.1:c.41088del NP_001243779.1:p.Asn13696fs NC_000002.12:178620509:A: p.(Asn13696LysfsTer22) NC_000002.12:178620509:A: p.(Asn13696LysfsTer22) NC_000002.12:178620509:A: Analogous +NM_000202.8:c.479C>A NP_000193.1:p.Pro160His NC_000023.11:149500976:G:T p.(Pro160His) NC_000023.11:149500976:G:T p.(Pro160His) NC_000023.11:149500976:G:T Identity +NM_133379.5:c.13919A>G NP_596870.2:p.Gln4640Arg NC_000002.12:178748480:T:C p.(Gln4640Arg) NC_000002.12:178748480:T:C p.(Gln4640Arg) NC_000002.12:178748480:T:C Identity +NM_015629.4:c.973G>T NP_056444.3:p.Glu325Ter NC_000019.10:54128099:G:T p.(Glu325Ter) NC_000019.10:54128099:G:T p.(Glu325Ter) NC_000019.10:54128099:G:T Identity +NM_001135021.2:c.706G>A NP_001128493.1:p.Glu236Lys NC_000002.12:85377441:G:A p.(Glu236Lys) NC_000002.12:85377441:G:A p.(Glu236Lys) NC_000002.12:85377441:G:A Identity +NM_138694.4:c.8120G>A NP_619639.3:p.Gly2707Asp NC_000006.12:51836456:C:T p.(Gly2707Asp) NC_000006.12:51836456:C:T p.(Gly2707Asp) NC_000006.12:51836456:C:T Identity +NM_005559.4:c.7979A>G NP_005550.2:p.Asn2660Ser NC_000018.10:6956750:T:C p.(Asn2660Ser) NC_000018.10:6956750:T:C p.(Asn2660Ser) NC_000018.10:6956750:T:C Identity +NM_000021.4:c.491C>T NP_000012.1:p.Ala164Val NC_000014.9:73186862:C:T p.(Ala164Val) NC_000014.9:73186862:C:T p.(Ala164Val) NC_000014.9:73186862:C:T Identity +NM_000068.4:c.6631C>T NP_000059.3:p.Arg2211Trp NC_000019.10:13208922:G:A p.(Arg2211Trp) NC_000019.10:13208922:G:A p.(Arg2211Trp) NC_000019.10:13208922:G:A Identity +NM_001103184.4:c.1004C>T NP_001096654.1:p.Pro335Leu NC_000015.10:33066880:G:A p.(Pro335Leu) NC_000015.10:33066880:G:A p.(Pro335Leu) NC_000015.10:33066880:G:A Identity +NM_024408.4:c.5156G>A NP_077719.2:p.Arg1719Gln NC_000001.11:119922292:C:T p.(Arg1719Gln) NC_000001.11:119922292:C:T p.(Arg1719Gln) NC_000001.11:119922292:C:T Identity +NM_001190241.2:c.1747C>A NP_001177170.1:p.Gln583Lys NC_000003.12:160268477:G:T p.(Gln583Lys) NC_000003.12:160268477:G:T p.(Gln583Lys) NC_000003.12:160268477:G:T Identity +NM_000276.4:c.1298A>G NP_000267.2:p.Asn433Ser NC_000023.11:129565824:A:G p.(Asn433Ser) NC_000023.11:129565824:A:G p.(Asn433Ser) NC_000023.11:129565824:A:G Identity +NM_001256850.1:c.38056G>A NP_001243779.1:p.Gly12686Arg NC_000002.12:178633293:C:T p.(Gly12686Arg) NC_000002.12:178633293:C:T p.(Gly12686Arg) NC_000002.12:178633293:C:T Identity +NM_194318.4:c.728A>G NP_919299.3:p.Asn243Ser NC_000013.11:31274575:A:G p.(Asn243Ser) NC_000013.11:31274575:A:G p.(Asn243Ser) NC_000013.11:31274575:A:G Identity +NM_001277269.2:c.94G>A NP_001264198.1:p.Gly32Ser NC_000011.10:17547465:G:A p.(Gly32Ser) NC_000011.10:17547465:G:A p.(Gly32Ser) NC_000011.10:17547465:G:A Identity +LRG_1286t1:c.1768G>C LRG_1286p1:p.Glu590Gln NC_000016.10:14446983:C:G ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found +NM_001256850.1:c.79668C>A NP_001243779.1:p.Ser26556Arg NC_000002.12:178561540:G:T p.(Ser26556Arg) NC_000002.12:178561540:G:T p.(Ser26556Arg) NC_000002.12:178561540:G:T Identity +NM_033071.5:c.16963G>A NP_149062.2:p.Ala5655Thr NC_000006.12:152309860:C:T p.(Ala5655Thr) NC_000006.12:152309860:C:T p.(Ala5655Thr) NC_000006.12:152309860:C:T Identity +NM_015102.5:c.511G>T NP_055917.1:p.Ala171Ser NC_000001.11:5967304:C:A p.(Ala171Ser) NC_000001.11:5967304:C:A p.(Ala171Ser) NC_000001.11:5967304:C:A Identity +NM_001256850.1:c.10452G>T NP_001243779.1:p.Leu3484Phe NC_000002.12:178741829:C:A p.(Leu3484Phe) NC_000002.12:178741829:C:A p.(Leu3484Phe) NC_000002.12:178741829:C:A Identity +NM_001166415.2:c.1516C>T NP_001159887.1:p.Arg506Trp NC_000003.12:185192593:G:A p.(Arg506Trp) NC_000003.12:185192593:G:A p.(Arg506Trp) NC_000003.12:185192593:G:A Identity +NM_001256850.1:c.65243C>G NP_001243779.1:p.Ala21748Gly NC_000002.12:178575965:G:C p.(Ala21748Gly) NC_000002.12:178575965:G:C p.(Ala21748Gly) NC_000002.12:178575965:G:C Identity +NM_000445.5:c.7259G>T NP_000436.2:p.Ser2420Ile NC_000008.11:143922750:C:A p.(Ser2420Ile) NC_000008.11:143922750:C:A p.(Ser2420Ile) NC_000008.11:143922750:C:A Identity +NM_001849.4:c.830del NP_001840.3:p.Gly277fs NC_000021.9:46115897:GGG:GG p.(Gly277GlufsTer131) NC_000021.9:46115897:GGG:GG p.(Gly277GlufsTer131) NC_000021.9:46115899:G: Analogous +NM_001130455.2:c.4084T>C NP_001123927.1:p.Cys1362Arg NC_000002.12:71611539:T:C p.(Cys1362Arg) NC_000002.12:71611539:T:C p.(Cys1362Arg) NC_000002.12:71611539:T:C Identity +NM_000445.5:c.9734G>A NP_000436.2:p.Arg3245Gln NC_000008.11:143920167:C:T p.(Arg3245Gln) NC_000008.11:143920167:C:T p.(Arg3245Gln) NC_000008.11:143920167:C:T Identity +NM_024408.4:c.6808A>G NP_077719.2:p.Met2270Val NC_000001.11:119915913:T:C p.(Met2270Val) NC_000001.11:119915913:T:C p.(Met2270Val) NC_000001.11:119915913:T:C Identity +NM_001365951.3:c.2551T>A NP_001352880.1:p.Leu851Met NC_000001.11:10324770:T:A p.(Leu851Met) NC_000001.11:10324770:T:A p.(Leu851Met) NC_000001.11:10324770:T:A Identity +NM_001357321.2:c.1645G>A NP_001344250.1:p.Ala549Thr NC_000002.12:43875304:G:A p.(Ala549Thr) NC_000002.12:43875304:G:A p.(Ala549Thr) NC_000002.12:43875304:G:A Identity +NM_000784.4:c.515C>T NP_000775.1:p.Ala172Val NC_000002.12:218812289:C:T p.(Ala172Val) NC_000002.12:218812289:C:T p.(Ala172Val) NC_000002.12:218812289:C:T Identity +NM_000780.4:c.1384C>G NP_000771.2:p.Leu462Val NC_000008.11:58491605:G:C p.(Leu462Val) NC_000008.11:58491605:G:C p.(Leu462Val) NC_000008.11:58491605:G:C Identity +NM_001256850.1:c.7180G>C NP_001243779.1:p.Glu2394Gln NC_000002.12:178773987:C:G p.(Glu2394Gln) NC_000002.12:178773987:C:G p.(Glu2394Gln) NC_000002.12:178773987:C:G Identity +NM_000350.3:c.4529C>T NP_000341.2:p.Pro1510Leu NC_000001.11:94029454:G:A p.(Pro1510Leu) NC_000001.11:94029454:G:A p.(Pro1510Leu) NC_000001.11:94029454:G:A Identity +NM_001193314.2:c.1460C>T NP_001180243.1:p.Ser487Leu NC_000014.9:77428370:G:A p.(Ser487Leu) NC_000014.9:77428370:G:A p.(Ser487Leu) NC_000014.9:77428370:G:A Identity +NM_000443.4:c.1313C>T NP_000434.1:p.Thr438Met NC_000007.14:87443361:G:A p.(Thr438Met) NC_000007.14:87443361:G:A p.(Thr438Met) NC_000007.14:87443361:G:A Identity +NM_001282902.3:c.283C>T NP_001269831.1:p.Pro95Ser NC_000008.11:115619787:G:A p.(Pro95Ser) NC_000008.11:115619787:G:A p.(Pro95Ser) NC_000008.11:115619787:G:A Identity +NM_024408.4:c.7356G>C NP_077719.2:p.Gln2452His NC_000001.11:119915365:C:G p.(Gln2452His) NC_000001.11:119915365:C:G p.(Gln2452His) NC_000001.11:119915365:C:G Identity +NM_001130455.2:c.4717G>A NP_001123927.1:p.Ala1573Thr NC_000002.12:71658952:G:A p.(Ala1573Thr) NC_000002.12:71658952:G:A p.(Ala1573Thr) NC_000002.12:71658952:G:A Identity +NM_001167962.2:c.1732G>A NP_001161434.1:p.Glu578Lys NC_000007.14:103377756:C:T p.(Glu578Lys) NC_000007.14:103377756:C:T p.(Glu578Lys) NC_000007.14:103377756:C:T Identity +NM_001080522.2:c.2891A>G NP_001073991.2:p.His964Arg NC_000004.12:15559225:A:G p.(His964Arg) NC_000004.12:15559225:A:G p.(His964Arg) NC_000004.12:15559225:A:G Identity +NM_022436.3:c.112C>G NP_071881.1:p.Leu38Val NC_000002.12:43838567:G:C p.(Leu38Val) NC_000002.12:43838567:G:C p.(Leu38Val) NC_000002.12:43838567:G:C Identity +NM_000443.4:c.1577T>G NP_000434.1:p.Val526Gly NC_000007.14:87439820:A:C p.(Val526Gly) NC_000007.14:87439820:A:C p.(Val526Gly) NC_000007.14:87439820:A:C Identity +NM_000081.4:c.9552G>T NP_000072.2:p.Leu3184Phe NC_000001.11:235720668:C:A p.(Leu3184Phe) NC_000001.11:235720668:C:A p.(Leu3184Phe) NC_000001.11:235720668:C:A Identity +LRG_1244t1:c.538C>A LRG_1244p1:p.Gln180Lys NC_000009.12:101427483:G:T ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found +NM_000466.3:c.254G>A NP_000457.1:p.Gly85Glu NC_000007.14:92522120:C:T p.(Gly85Glu) NC_000007.14:92522120:C:T p.(Gly85Glu) NC_000007.14:92522120:C:T Identity +NM_000445.5:c.5525G>A NP_000436.2:p.Arg1842Gln NC_000008.11:143924484:C:T p.(Arg1842Gln) NC_000008.11:143924484:C:T p.(Arg1842Gln) NC_000008.11:143924484:C:T Identity +NM_001365213.2:c.1272_1273delinsC NP_001352142.1:p.Glu425fs NC_000001.11:173850406:GG:C p.(Glu425AsnfsTer2) NC_000001.11:173850406:GG:C p.(Glu425AsnfsTer2) NC_000001.11:173850406:GG:C Analogous +NM_001282902.3:c.2033T>C NP_001269831.1:p.Ile678Thr NC_000008.11:115603908:A:G p.(Ile678Thr) NC_000008.11:115603908:A:G p.(Ile678Thr) NC_000008.11:115603908:A:G Identity +NM_001276289.2:c.854A>G NP_001263218.1:p.Gln285Arg NC_000017.11:68528953:A:G p.(Gln285Arg) NC_000017.11:68528953:A:G p.(Gln285Arg) NC_000017.11:68528953:A:G Identity +NM_005559.4:c.505C>T NP_005550.2:p.Arg169Ter NC_000018.10:7050776:G:A p.(Arg169Ter) NC_000018.10:7050776:G:A p.(Arg169Ter) NC_000018.10:7050776:G:A Identity +NM_001234.5:c.134T>A NP_001225.1:p.Ile45Asn NC_000003.12:8745544:T:A p.(Ile45Asn) NC_000003.12:8745544:T:A p.(Ile45Asn) NC_000003.12:8745544:T:A Identity +NM_001849.4:c.1405G>A NP_001840.3:p.Gly469Ser NC_000021.9:46121069:G:A p.(Gly469Ser) NC_000021.9:46121069:G:A p.(Gly469Ser) NC_000021.9:46121069:G:A Identity +NM_000400.4:c.466_468delinsTGC NP_000391.1:p.Arg156Cys NC_000019.10:45365050:TCG:GCA p.(Arg156Cys) NC_000019.10:45365050:TCG:GCA p.(Arg156Cys) NC_000019.10:45365050:TCG:GCA Identity +NM_000452.3:c.756G>T NP_000443.2:p.Trp252Cys NC_000013.11:103051261:C:A p.(Trp252Cys) NC_000013.11:103051261:C:A p.(Trp252Cys) NC_000013.11:103051261:C:A Identity +NM_001256850.1:c.70742dup NP_001243779.1:p.Cys23581fs NC_000002.12:178570466:C:CC p.(Cys23581TrpfsTer15) NC_000002.12:178570466:C:CC p.(Cys23581TrpfsTer15) ERR:SPDI Analogous +NM_001256850.1:c.38447del NP_001243779.1:p.Lys12816fs NC_000002.12:178632635:TTT:TT p.(Lys12816ArgfsTer9) NC_000002.12:178632635:TTT:TT p.(Lys12816ArgfsTer9) NC_000002.12:178632635:T: Analogous +NM_000295.5:c.879C>A NP_000286.3:p.His293Gln NC_000014.9:94380908:G:T p.(His293Gln) NC_000014.9:94380908:G:T p.(His293Gln) NC_000014.9:94380908:G:T Identity +NM_001257374.3:c.557G>C NP_001244303.1:p.Arg186Pro NC_000001.11:156135268:G:C p.(Arg186Pro) NC_000001.11:156135268:G:C p.(Arg186Pro) NC_000001.11:156135268:G:C Identity +NM_001256850.1:c.98254A>C NP_001243779.1:p.Thr32752Pro NC_000002.12:178533437:T:G p.(Thr32752Pro) NC_000002.12:178533437:T:G p.(Thr32752Pro) NC_000002.12:178533437:T:G Identity +NM_001256850.1:c.78428C>T NP_001243779.1:p.Thr26143Met NC_000002.12:178562780:G:A p.(Thr26143Met) NC_000002.12:178562780:G:A p.(Thr26143Met) NC_000002.12:178562780:G:A Identity +NM_001849.4:c.950G>A NP_001840.3:p.Arg317His NC_000021.9:46116672:G:A p.(Arg317His) NC_000021.9:46116672:G:A p.(Arg317His) NC_000021.9:46116672:G:A Identity +NM_003482.4:c.1075C>T NP_003473.3:p.Arg359Cys NC_000012.12:49052951:G:A p.(Arg359Cys) NC_000012.12:49052951:G:A p.(Arg359Cys) NC_000012.12:49052951:G:A Identity +NM_001042383.2:c.31C>T NP_001035842.1:p.Arg11Ter NC_000003.12:134495350:C:T p.(Arg11Ter) NC_000003.12:134495350:C:T p.(Arg11Ter) NC_000003.12:134495350:C:T Identity +NM_133379.5:c.13981A>G NP_596870.2:p.Asn4661Asp NC_000002.12:178748418:T:C p.(Asn4661Asp) NC_000002.12:178748418:T:C p.(Asn4661Asp) NC_000002.12:178748418:T:C Identity +NM_001184985.2:c.7058G>A NP_001171914.1:p.Arg2353His NC_000012.12:897510:G:A p.(Arg2353His) NC_000012.12:897510:G:A p.(Arg2353His) NC_000012.12:897510:G:A Identity +NM_001174063.2:c.214C>T NP_001167534.1:p.Gln72Ter NC_000008.11:38429825:G:A p.(Gln72Ter) NC_000008.11:38429825:G:A p.(Gln72Ter) NC_000008.11:38429825:G:A Identity +NM_001318186.2:c.926dup NP_001305115.1:p.Tyr309Ter NC_000009.12:83971681:T:TT p.(Tyr309Ter) NC_000009.12:83971681:T:TT p.(Tyr309Ter) ERR:SPDI Identity +NM_001042385.2:c.1607del NP_001035844.1:p.Pro536fs NC_000002.12:44323364:GG:G p.(Pro536LeufsTer2) NC_000002.12:44323364:GG:G p.(Pro536LeufsTer2) NC_000002.12:44323364:G: Analogous +NM_014467.3:c.1099del NP_055282.1:p.Ser367fs NC_000023.11:100669250:T: p.(Ser367ProfsTer10) NC_000023.11:100669250:T: p.(Ser367ProfsTer10) NC_000023.11:100669250:T: Analogous +NM_004586.3:c.608AAG[1] NP_004577.1:p.Glu204del NC_000023.11:20188514:CTTCTTC:CTTC p.(Glu204del) NC_000023.11:20188519:T:CTT ERR:Parse ERR:Parse Identity +NM_001365684.2:c.4978C>T NP_001352613.2:p.Gln1660Ter NC_000005.10:177280792:C:T p.(Gln1660Ter) NC_000005.10:177280792:C:T p.(Gln1660Ter) NC_000005.10:177280792:C:T Identity +NM_000466.3:c.3398C>T NP_000457.1:p.Ser1133Phe NC_000007.14:92491311:G:A p.(Ser1133Phe) NC_000007.14:92491311:G:A p.(Ser1133Phe) NC_000007.14:92491311:G:A Identity +NM_001103184.4:c.1645G>A NP_001096654.1:p.Glu549Lys NC_000015.10:32969386:C:T p.(Glu549Lys) NC_000015.10:32969386:C:T p.(Glu549Lys) NC_000015.10:32969386:C:T Identity +NM_033071.5:c.8009G>T NP_149062.2:p.Arg2670Leu NC_000006.12:152391292:C:A p.(Arg2670Leu) NC_000006.12:152391292:C:A p.(Arg2670Leu) NC_000006.12:152391292:C:A Identity +NM_005881.4:c.1120C>T NP_005872.2:p.Arg374Trp NC_000016.10:31112145:C:T p.(Arg374Trp) NC_000016.10:31112145:C:T p.(Arg374Trp) NC_000016.10:31112145:C:T Identity +NM_000271.5:c.1301C>G NP_000262.2:p.Pro434Arg NC_000018.10:23556267:G:C p.(Pro434Arg) NC_000018.10:23556267:G:C p.(Pro434Arg) NC_000018.10:23556267:G:C Identity +NM_001318859.2:c.361G>C NP_001305788.1:p.Val121Leu NC_000002.12:73946823:G:C p.(Val121Leu) NC_000002.12:73946823:G:C p.(Val121Leu) NC_000002.12:73946823:G:C Identity +NM_001126054.3:c.1609C>T NP_001119526.1:p.Arg537Ter NC_000023.11:41561617:G:A p.(Arg537Ter) NC_000023.11:41561617:G:A p.(Arg537Ter) NC_000023.11:41561617:G:A Identity +NM_001256850.1:c.9654C>G NP_001243779.1:p.Tyr3218Ter NC_000002.12:178766429:G:C p.(Tyr3218Ter) NC_000002.12:178766429:G:C p.(Tyr3218Ter) NC_000002.12:178766429:G:C Identity +NM_000094.4:c.4027C>T NP_000085.1:p.Arg1343Ter NC_000003.12:48584753:G:A p.(Arg1343Ter) NC_000003.12:48584753:G:A p.(Arg1343Ter) NC_000003.12:48584753:G:A Identity +NM_000192.3:c.473_476del NP_000183.2:p.Leu158fs NC_000012.12:114398606:TTGA: p.(Leu158ArgfsTer15) NC_000012.12:114398606:TTGA: p.(Leu158ArgfsTer15) NC_000012.12:114398606:TTGA: Analogous +NM_001256850.1:c.55361_55362del NP_001243779.1:p.Thr18454fs NC_000002.12:178591439:TGTG:TG p.(Thr18454SerfsTer23) NC_000002.12:178591439:TGTG:TG p.(Thr18454SerfsTer23) NC_000002.12:178591439:TG: Analogous +NM_002700.3:c.901T>C NP_002691.1:p.Ser301Pro NC_000005.10:146340327:T:C p.(Ser301Pro) NC_000005.10:146340327:T:C p.(Ser301Pro) NC_000005.10:146340327:T:C Identity +NM_000287.4:c.407C>A NP_000278.3:p.Pro136Gln NC_000006.12:42978743:G:T p.(Pro136Gln) NC_000006.12:42978743:G:T p.(Pro136Gln) NC_000006.12:42978743:G:T Identity +NM_001256850.1:c.29429A>T NP_001243779.1:p.Asn9810Ile NC_000002.12:178702506:T:A p.(Asn9810Ile) NC_000002.12:178702506:T:A p.(Asn9810Ile) NC_000002.12:178702506:T:A Identity +NM_001353967.2:c.503_524del NP_001340896.1:p.Met168fs NC_000002.12:73847510:AGATGATCCGGAACCAGGAGCTAGA:AGA p.(Met168LysfsTer5) NC_000002.12:73847510:AGATGATCCGGAACCAGGAGCTAGA:AGA p.(Met168LysfsTer5) NC_000002.12:73847513:TGATCCGGAACCAGGAGCTAGA: Analogous +NM_001290186.2:c.17del NP_001277115.1:p.Gly6fs NC_000001.11:160343408:GGGGG:GGGG p.(Gly6ValfsTer22) NC_000001.11:160343408:GGGGG:GGGG p.(Gly6ValfsTer22) NC_000001.11:160343412:G: Analogous +NM_001260492.2:c.119G>T NP_001247421.1:p.Arg40Leu NC_000011.10:110264851:C:A p.(Arg40Leu) NC_000011.10:110264851:C:A p.(Arg40Leu) NC_000011.10:110264851:C:A Identity +NM_000138.5:c.5861del NP_000129.3:p.Phe1954fs NC_000015.10:48445431:AAA:AA p.(Phe1954SerfsTer26) NC_000015.10:48445431:AAA:AA p.(Phe1954SerfsTer26) NC_000015.10:48445431:A: Analogous +NM_005932.4:c.590T>C NP_005923.3:p.Leu197Pro NC_000013.11:23874858:A:G p.(Leu197Pro) NC_000013.11:23874858:A:G p.(Leu197Pro) NC_000013.11:23874858:A:G Identity +NM_001079878.2:c.1266G>A NP_001073347.1:p.Trp422Ter NC_000002.12:98396489:G:A p.(Trp422Ter) NC_000002.12:98396489:G:A p.(Trp422Ter) NC_000002.12:98396489:G:A Identity +NM_018451.5:c.1132C>T NP_060921.3:p.Arg378Ter NC_000013.11:24906905:G:A p.(Arg378Ter) NC_000013.11:24906905:G:A p.(Arg378Ter) NC_000013.11:24906905:G:A Identity +NM_001031737.3:c.70C>T NP_001026907.2:p.Arg24Ter NC_000016.10:726075:G:A p.(Arg24Ter) NC_000016.10:726075:G:A p.(Arg24Ter) NC_000016.10:726075:G:A Identity +NM_001256850.1:c.101126del NP_001243779.1:p.Thr33709fs NC_000002.12:178530565:G: p.(Thr33709MetfsTer55) NC_000002.12:178530565:G: p.(Thr33709MetfsTer55) NC_000002.12:178530565:G: Analogous +NM_001172766.3:c.1368del NP_001166237.1:p.Thr457fs NC_000007.14:114658168:TT:T p.(Thr457ProfsTer6) NC_000007.14:114658168:TT:T p.(Thr457ProfsTer6) NC_000007.14:114658169:T: Analogous +NM_001105243.2:c.875_879dup NP_001098713.1:p.His294fs NC_000023.11:100407718:CGGGTCG:CGGGTCGGGTCG p.(His294ThrfsTer13) NC_000023.11:100407718:CGGGTCG:CGGGTCGGGTCG p.(His294ThrfsTer13) ERR:SPDI Analogous +NM_002775.5:c.267C>A NP_002766.1:p.Cys89Ter NC_000010.11:122461918:C:A p.(Cys89Ter) NC_000010.11:122461918:C:A p.(Cys89Ter) NC_000010.11:122461918:C:A Identity +NM_002470.4:c.2419C>T NP_002461.2:p.Gln807Ter NC_000017.11:10640339:G:A p.(Gln807Ter) NC_000017.11:10640339:G:A p.(Gln807Ter) NC_000017.11:10640339:G:A Identity +NM_001101362.3:c.15dup NP_001094832.1:p.Gln6fs NC_000015.10:65076829:A:AA p.(Gln6ThrfsTer139) NC_000015.10:65076829:A:AA p.(Gln6ThrfsTer139) ERR:SPDI Analogous +LRG_650t1:c.1970dup LRG_650p1:p.Val658fs NC_000007.14:92213249:GGG:GGGG ERR:Data provider error: ValueError: Transcript LRG_650t1 not found ERR:Data provider error: ValueError: Transcript LRG_650t1 not found ERR:AlignmentMapper(tx_ac=LRG_650t1, alt_ac=LRG_650t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_650t1, alt_ac=LRG_650t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_650t1 not found +NM_001172509.2:c.997C>T NP_001165980.1:p.Gln333Ter NC_000002.12:199348876:G:A p.(Gln333Ter) NC_000002.12:199348876:G:A p.(Gln333Ter) NC_000002.12:199348876:G:A Identity +NM_032119.4:c.1466C>T NP_115495.3:p.Pro489Leu NC_000005.10:90628788:C:T p.(Pro489Leu) NC_000005.10:90628788:C:T p.(Pro489Leu) NC_000005.10:90628788:C:T Identity +NM_001089.3:c.4420C>T NP_001080.2:p.Arg1474Trp NC_000016.10:2279069:G:A p.(Arg1474Trp) NC_000016.10:2279069:G:A p.(Arg1474Trp) NC_000016.10:2279069:G:A Identity +NM_001018116.2:c.692G>A NP_001018126.1:p.Arg231Lys NC_000009.12:100586047:G:A p.(Arg231Lys) NC_000009.12:100586047:G:A p.(Arg231Lys) NC_000009.12:100586047:G:A Identity +NM_001167733.3:c.187G>A NP_001161205.1:p.Gly63Arg NC_000006.12:30916184:G:A p.(Gly63Arg) NC_000006.12:30916184:G:A p.(Gly63Arg) NC_000006.12:30916184:G:A Identity +NM_032043.3:c.3710C>A NP_114432.2:p.Ser1237Tyr NC_000017.11:61683335:G:T p.(Ser1237Tyr) NC_000017.11:61683335:G:T p.(Ser1237Tyr) NC_000017.11:61683335:G:T Identity +NM_001282512.3:c.68C>A NP_001269441.1:p.Ala23Glu NC_000022.11:19941735:G:T p.(Ala23Glu) NC_000022.11:19941735:G:T p.(Ala23Glu) NC_000022.11:19941735:G:T Identity +NM_000445.5:c.9197G>A NP_000436.2:p.Ser3066Asn NC_000008.11:143920704:C:T p.(Ser3066Asn) NC_000008.11:143920704:C:T p.(Ser3066Asn) NC_000008.11:143920704:C:T Identity +NM_001171653.2:c.3380T>C NP_001165124.1:p.Leu1127Pro NC_000002.12:144389643:A:G p.(Leu1127Pro) NC_000002.12:144389643:A:G p.(Leu1127Pro) NC_000002.12:144389643:A:G Identity +NM_015693.4:c.1499A>C NP_056508.2:p.Glu500Ala NC_000004.12:127700058:A:C p.(Glu500Ala) NC_000004.12:127700058:A:C p.(Glu500Ala) NC_000004.12:127700058:A:C Identity +NM_001256850.1:c.42535G>C NP_001243779.1:p.Val14179Leu NC_000002.12:178617892:C:G p.(Val14179Leu) NC_000002.12:178617892:C:G p.(Val14179Leu) NC_000002.12:178617892:C:G Identity +NM_001130438.3:c.1691G>A NP_001123910.1:p.Arg564His NC_000009.12:128582733:G:A p.(Arg564His) NC_000009.12:128582733:G:A p.(Arg564His) NC_000009.12:128582733:G:A Identity +NM_001110556.2:c.3044C>T NP_001104026.1:p.Ala1015Val NC_000023.11:154361470:G:A p.(Ala1015Val) NC_000023.11:154361470:G:A p.(Ala1015Val) NC_000023.11:154361470:G:A Identity +NM_001199954.3:c.548G>A NP_001186883.1:p.Arg183Gln NC_000017.11:81511441:C:T p.(Arg183Gln) NC_000017.11:81511441:C:T p.(Arg183Gln) NC_000017.11:81511441:C:T Identity +NM_001297764.2:c.164G>A NP_001284693.1:p.Arg55His NC_000011.10:17531482:C:T p.(Arg55His) NC_000011.10:17531482:C:T p.(Arg55His) NC_000011.10:17531482:C:T Identity +NM_032119.4:c.10952A>G NP_115495.3:p.Tyr3651Cys NC_000005.10:90745772:A:G p.(Tyr3651Cys) NC_000005.10:90745772:A:G p.(Tyr3651Cys) NC_000005.10:90745772:A:G Identity +NM_001199799.2:c.1291C>T NP_001186728.1:p.Arg431Cys NC_000003.12:121993457:G:A p.(Arg431Cys) NC_000003.12:121993457:G:A p.(Arg431Cys) NC_000003.12:121993457:G:A Identity +NM_001193465.2:c.803C>T NP_001180394.1:p.Ser268Phe NC_000017.11:46171340:G:A p.(Ser268Phe) NC_000017.11:46171340:G:A p.(Ser268Phe) NC_000017.11:46171340:G:A Identity +NM_001251987.2:c.592A>G NP_001238916.1:p.Thr198Ala NC_000006.12:123512320:T:C p.(Thr198Ala) NC_000006.12:123512320:T:C p.(Thr198Ala) NC_000006.12:123512320:T:C Identity +NM_001135058.2:c.35G>A NP_001128530.1:p.Gly12Asp NC_000014.9:30875055:G:A p.(Gly12Asp) NC_000014.9:30875055:G:A p.(Gly12Asp) NC_000014.9:30875055:G:A Identity +NM_032119.4:c.2759G>A NP_115495.3:p.Arg920Gln NC_000005.10:90644729:G:A p.(Arg920Gln) NC_000005.10:90644729:G:A p.(Arg920Gln) NC_000005.10:90644729:G:A Identity +NM_001077186.2:c.3472G>T NP_001070654.1:p.Ala1158Ser NC_000019.10:50276093:G:T p.(Ala1158Ser) NC_000019.10:50276093:G:T p.(Ala1158Ser) NC_000019.10:50276093:G:T Identity +NM_001277269.2:c.14C>T NP_001264198.1:p.Ala5Val NC_000011.10:17547385:C:T p.(Ala5Val) NC_000011.10:17547385:C:T p.(Ala5Val) NC_000011.10:17547385:C:T Identity +NM_052836.4:c.1492C>T NP_443068.1:p.Pro498Ser NC_000010.11:71646659:C:T p.(Pro498Ser) NC_000010.11:71646659:C:T p.(Pro498Ser) NC_000010.11:71646659:C:T Identity +NM_022114.4:c.413C>T NP_071397.3:p.Ser138Leu NC_000001.11:3244111:C:T p.(Ser138Leu) NC_000001.11:3244111:C:T p.(Ser138Leu) NC_000001.11:3244111:C:T Identity +NM_000260.4:c.4978G>A NP_000251.3:p.Gly1660Arg NC_000011.10:77201572:G:A p.(Gly1660Arg) NC_000011.10:77201572:G:A p.(Gly1660Arg) NC_000011.10:77201572:G:A Identity +NM_032119.4:c.13600A>G NP_115495.3:p.Met4534Val NC_000005.10:90784003:A:G p.(Met4534Val) NC_000005.10:90784003:A:G p.(Met4534Val) NC_000005.10:90784003:A:G Identity +NM_001127453.2:c.1331G>T NP_001120925.1:p.Arg444Met NC_000007.14:24699185:C:A p.(Arg444Met) NC_000007.14:24699185:C:A p.(Arg444Met) NC_000007.14:24699185:C:A Identity +NM_000248.4:c.452_464dup NP_000239.1:p.Asp156fs NC_000003.12:69949059:TCGGGAAACTTGAT:TCGGGAAACTTGATCGGGAAACTTGAT p.(Asp156GlyfsTer5) NC_000003.12:69949059:TCGGGAAACTTGAT:TCGGGAAACTTGATCGGGAAACTTGAT p.(Asp156GlyfsTer5) ERR:SPDI Analogous +NM_017433.5:c.3040A>G NP_059129.3:p.Met1014Val NC_000010.11:26166106:A:G p.(Met1014Val) NC_000010.11:26166106:A:G p.(Met1014Val) NC_000010.11:26166106:A:G Identity +NM_001039141.3:c.4726C>T NP_001034230.1:p.Arg1576Cys NC_000022.11:37735061:C:T p.(Arg1576Cys) NC_000022.11:37735061:C:T p.(Arg1576Cys) NC_000022.11:37735061:C:T Identity +NM_001369.3:c.10195G>A NP_001360.1:p.Val3399Ile NC_000005.10:13762807:C:T p.(Val3399Ile) NC_000005.10:13762807:C:T p.(Val3399Ile) NC_000005.10:13762807:C:T Identity +NM_001272073.2:c.1492C>T NP_001259002.1:p.Arg498Trp NC_000003.12:49099510:G:A p.(Arg498Trp) NC_000003.12:49099510:G:A p.(Arg498Trp) NC_000003.12:49099510:G:A Identity +NM_001286445.3:c.1495C>T NP_001273374.1:p.Arg499Cys NC_000006.12:24843223:G:A p.(Arg499Cys) NC_000006.12:24843223:G:A p.(Arg499Cys) NC_000006.12:24843223:G:A Identity +NM_001145026.2:c.98C>T NP_001138498.1:p.Thr33Ile NC_000012.12:80444783:C:T p.(Thr33Ile) NC_000012.12:80444783:C:T p.(Thr33Ile) NC_000012.12:80444783:C:T Identity +NM_001164507.2:c.6172A>T NP_001157979.2:p.Ile2058Phe NC_000002.12:151657993:T:A p.(Ile2058Phe) NC_000002.12:151657993:T:A p.(Ile2058Phe) NC_000002.12:151657993:T:A Identity +NM_001286130.2:c.1071GGA[4] NP_001273059.1:p.Glu365del NC_000016.10:57949370:TCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTC p.(Glu365del) NC_000016.10:57949384:C:TCCTCCTCCTCC ERR:Parse ERR:Parse Identity +NM_001164507.2:c.22144A>C NP_001157979.2:p.Thr7382Pro NC_000002.12:151525974:T:G p.(Thr7382Pro) NC_000002.12:151525974:T:G p.(Thr7382Pro) NC_000002.12:151525974:T:G Identity +NM_018136.5:c.7157A>G NP_060606.3:p.His2386Arg NC_000001.11:197102093:T:C p.(His2386Arg) NC_000001.11:197102093:T:C p.(His2386Arg) NC_000001.11:197102093:T:C Identity +NM_018109.4:c.1640A>G NP_060579.3:p.Asn547Ser NC_000010.11:30313717:T:C p.(Asn547Ser) NC_000010.11:30313717:T:C p.(Asn547Ser) NC_000010.11:30313717:T:C Identity +NM_001374689.1:c.622C>G NP_001361618.1:p.Pro208Ala NC_000009.12:131510080:C:G p.(Pro208Ala) NC_000009.12:131510080:C:G p.(Pro208Ala) NC_000009.12:131510080:C:G Identity +LRG_1122t1:c.4262A>G LRG_1122p1:p.Asn1421Ser NC_000009.12:136505633:T:C ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001256850.1:c.12835G>T NP_001243779.1:p.Ala4279Ser NC_000002.12:178739446:C:A p.(Ala4279Ser) NC_000002.12:178739446:C:A p.(Ala4279Ser) NC_000002.12:178739446:C:A Identity +NM_001164507.2:c.13819C>T NP_001157979.2:p.Arg4607Cys NC_000002.12:151598099:G:A p.(Arg4607Cys) NC_000002.12:151598099:G:A p.(Arg4607Cys) NC_000002.12:151598099:G:A Identity +NM_004447.6:c.104A>G NP_004438.3:p.His35Arg NC_000012.12:15681257:T:C p.(His35Arg) NC_000012.12:15681257:T:C p.(His35Arg) NC_000012.12:15681257:T:C Identity +NM_001324290.2:c.249_250insC NP_001311219.1:p.Gly84fs NC_000023.11:111682299::C p.(Gly84ArgfsTer78) NC_000023.11:111682298:A:C p.(Gly84ArgfsTer78) NC_000023.11:111682299:AG:C Analogous +NM_001171930.2:c.2551G>A NP_001165401.1:p.Glu851Lys NC_000010.11:71702174:G:A p.(Glu851Lys) NC_000010.11:71702174:G:A p.(Glu851Lys) NC_000010.11:71702174:G:A Identity +NM_001018041.2:c.903G>A NP_001018051.1:p.Pro301= NC_000006.12:145627508:C:T p.(Pro301=) NC_000006.12:145627508:C:T p.(Pro301=) NC_000006.12:145627508:C:T Identity +NM_001256850.1:c.24649G>A NP_001243779.1:p.Ala8217Thr NC_000002.12:178717133:C:T p.(Ala8217Thr) NC_000002.12:178717133:C:T p.(Ala8217Thr) NC_000002.12:178717133:C:T Identity +NM_001256850.1:c.3169G>A NP_001243779.1:p.Val1057Ile NC_000002.12:178782422:C:T p.(Val1057Ile) NC_000002.12:178782422:C:T p.(Val1057Ile) NC_000002.12:178782422:C:T Identity +NM_001171653.2:c.1192G>A NP_001165124.1:p.Ala398Thr NC_000002.12:144399922:C:T p.(Ala398Thr) NC_000002.12:144399922:C:T p.(Ala398Thr) NC_000002.12:144399922:C:T Identity +NM_001256850.1:c.82677G>C NP_001243779.1:p.Met27559Ile NC_000002.12:178557753:C:G p.(Met27559Ile) NC_000002.12:178557753:C:G p.(Met27559Ile) NC_000002.12:178557753:C:G Identity +NM_000366.6:c.613A>C NP_000357.3:p.Lys205Gln NC_000015.10:63061246:A:C p.(Lys205Gln) NC_000015.10:63061246:A:C p.(Lys205Gln) NC_000015.10:63061246:A:C Identity +NM_000334.4:c.5468C>G NP_000325.4:p.Pro1823Arg NC_000017.11:63940813:G:C p.(Pro1823Arg) NC_000017.11:63940813:G:C p.(Pro1823Arg) NC_000017.11:63940813:G:C Identity +NM_025014.2:c.2519C>T NP_079290.1:p.Pro840Leu NC_000017.11:8320985:C:T p.(Pro840Leu) NC_000017.11:8320985:C:T p.(Pro840Leu) NC_000017.11:8320985:C:T Identity +LRG_233t1:c.286A>T LRG_233p1:p.Met96Leu NC_000023.11:108219735:T:A ERR:Data provider error: ValueError: Transcript LRG_233t1 not found ERR:Data provider error: ValueError: Transcript LRG_233t1 not found ERR:AlignmentMapper(tx_ac=LRG_233t1, alt_ac=LRG_233t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_233t1, alt_ac=LRG_233t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_233t1 not found +NM_001251987.2:c.949A>G NP_001238916.1:p.Lys317Glu NC_000006.12:123438985:T:C p.(Lys317Glu) NC_000006.12:123438985:T:C p.(Lys317Glu) NC_000006.12:123438985:T:C Identity +NM_001287489.2:c.2523G>T NP_001274418.1:p.Glu841Asp NC_000002.12:26477171:C:A p.(Glu841Asp) NC_000002.12:26477171:C:A p.(Glu841Asp) NC_000002.12:26477171:C:A Identity +NM_002473.6:c.3215C>T NP_002464.1:p.Ala1072Val NC_000022.11:36296899:G:A p.(Ala1072Val) NC_000022.11:36296899:G:A p.(Ala1072Val) NC_000022.11:36296899:G:A Identity +NM_001368062.3:c.1892C>G NP_001354991.2:p.Ser631Cys NC_000012.12:80261970:C:G p.(Ser631Cys) NC_000012.12:80261970:C:G p.(Ser631Cys) NC_000012.12:80261970:C:G Identity +NM_001288749.2:c.851G>A NP_001275678.1:p.Arg284Lys NC_000011.10:113690246:C:T p.(Arg284Lys) NC_000011.10:113690246:C:T p.(Arg284Lys) NC_000011.10:113690246:C:T Identity +NM_001282164.2:c.808G>A NP_001269093.1:p.Ala270Thr NC_000012.12:132621258:G:A p.(Ala270Thr) NC_000012.12:132621258:G:A p.(Ala270Thr) NC_000012.12:132621258:G:A Identity +NM_000535.7:c.2008A>G NP_000526.2:p.Lys670Glu NC_000007.14:5982989:T:C p.(Lys670Glu) NC_000007.14:5982989:T:C p.(Lys670Glu) NC_000007.14:5982989:T:C Identity +NM_020433.5:c.665A>G NP_065166.2:p.Gln222Arg NC_000020.11:44160121:T:C p.(Gln222Arg) NC_000020.11:44160121:T:C p.(Gln222Arg) NC_000020.11:44160121:T:C Identity +NM_001256850.1:c.100257G>T NP_001243779.1:p.Glu33419Asp NC_000002.12:178531434:C:A p.(Glu33419Asp) NC_000002.12:178531434:C:A p.(Glu33419Asp) NC_000002.12:178531434:C:A Identity +NM_001256267.2:c.3167C>T NP_001243196.1:p.Ser1056Phe NC_000010.11:68197359:C:T p.(Ser1056Phe) NC_000010.11:68197359:C:T p.(Ser1056Phe) NC_000010.11:68197359:C:T Identity +NM_000257.4:c.4450C>A NP_000248.2:p.Leu1484Ile NC_000014.9:23417221:G:T p.(Leu1484Ile) NC_000014.9:23417221:G:T p.(Leu1484Ile) NC_000014.9:23417221:G:T Identity +NM_001378761.1:c.1835A>G NP_001365690.1:p.Tyr612Cys NC_000011.10:121118392:A:G p.(Tyr612Cys) NC_000011.10:121118392:A:G p.(Tyr612Cys) NC_000011.10:121118392:A:G Identity +NM_001145853.1:c.1210C>G NP_001139325.1:p.Pro404Ala NC_000004.12:6301004:C:G p.(Pro404Ala) NC_000004.12:6301004:C:G p.(Pro404Ala) NC_000004.12:6301004:C:G Identity +NM_001145472.3:c.1409A>G NP_001138944.1:p.Glu470Gly NC_000018.10:46524599:T:C p.(Glu470Gly) NC_000018.10:46524599:T:C p.(Glu470Gly) NC_000018.10:46524599:T:C Identity +NM_138691.3:c.448G>A NP_619636.2:p.Ala150Thr NC_000009.12:72740203:G:A p.(Ala150Thr) NC_000009.12:72740203:G:A p.(Ala150Thr) NC_000009.12:72740203:G:A Identity +NM_014391.3:c.710A>G NP_055206.2:p.His237Arg NC_000010.11:90915821:T:C p.(His237Arg) NC_000010.11:90915821:T:C p.(His237Arg) NC_000010.11:90915821:T:C Identity +NM_001256850.1:c.101204G>C NP_001243779.1:p.Gly33735Ala NC_000002.12:178530487:C:G p.(Gly33735Ala) NC_000002.12:178530487:C:G p.(Gly33735Ala) NC_000002.12:178530487:C:G Identity +NM_001379277.1:c.6140G>A NP_001366206.1:p.Arg2047His NC_000007.14:92107370:G:A p.(Arg2047His) NC_000007.14:92107370:G:A p.(Arg2047His) NC_000007.14:92107370:G:A Identity +NM_001379277.1:c.5840G>A NP_001366206.1:p.Cys1947Tyr NC_000007.14:92102690:G:A p.(Cys1947Tyr) NC_000007.14:92102690:G:A p.(Cys1947Tyr) NC_000007.14:92102690:G:A Identity +NM_005921.2:c.2716G>A NP_005912.1:p.Val906Ile NC_000005.10:56881915:G:A p.(Val906Ile) NC_000005.10:56881915:G:A p.(Val906Ile) NC_000005.10:56881915:G:A Identity +NM_001256267.2:c.2972A>G NP_001243196.1:p.His991Arg NC_000010.11:68194408:A:G p.(His991Arg) NC_000010.11:68194408:A:G p.(His991Arg) NC_000010.11:68194408:A:G Identity +NM_001301012.2:c.925C>A NP_001287941.1:p.Pro309Thr NC_000006.12:133481578:C:A p.(Pro309Thr) NC_000006.12:133481578:C:A p.(Pro309Thr) NC_000006.12:133481578:C:A Identity +NM_032119.4:c.3269T>C NP_115495.3:p.Ile1090Thr NC_000005.10:90647743:T:C p.(Ile1090Thr) NC_000005.10:90647743:T:C p.(Ile1090Thr) NC_000005.10:90647743:T:C Identity +NM_001040113.2:c.3743G>A NP_001035202.1:p.Arg1248Gln NC_000016.10:15726983:C:T p.(Arg1248Gln) NC_000016.10:15726983:C:T p.(Arg1248Gln) NC_000016.10:15726983:C:T Identity +NM_001040113.2:c.3256G>A NP_001035202.1:p.Ala1086Thr NC_000016.10:15737506:C:T p.(Ala1086Thr) NC_000016.10:15737506:C:T p.(Ala1086Thr) NC_000016.10:15737506:C:T Identity +NM_000109.4:c.4272G>T NP_000100.3:p.Gln1424His NC_000023.11:32390118:C:A p.(Gln1424His) NC_000023.11:32390118:C:A p.(Gln1424His) NC_000023.11:32390118:C:A Identity +NM_001256850.1:c.89407T>C NP_001243779.1:p.Trp29803Arg NC_000002.12:178547194:A:G p.(Trp29803Arg) NC_000002.12:178547194:A:G p.(Trp29803Arg) NC_000002.12:178547194:A:G Identity +NM_004447.6:c.2177C>T NP_004438.3:p.Thr726Ile NC_000012.12:15624274:G:A p.(Thr726Ile) NC_000012.12:15624274:G:A p.(Thr726Ile) NC_000012.12:15624274:G:A Identity +NM_130791.5:c.544A>G NP_570607.1:p.Lys182Glu NC_000016.10:78278629:A:G p.(Lys182Glu) NC_000016.10:78278629:A:G p.(Lys182Glu) NC_000016.10:78278629:A:G Identity +NM_001130916.3:c.578A>G NP_001124388.1:p.Asn193Ser NC_000009.12:99142538:A:G p.(Asn193Ser) NC_000009.12:99142538:A:G p.(Asn193Ser) NC_000009.12:99142538:A:G Identity +NM_006393.3:c.826A>G NP_006384.1:p.Met276Val NC_000010.11:20858316:T:C p.(Met276Val) NC_000010.11:20858316:T:C p.(Met276Val) NC_000010.11:20858316:T:C Identity +NM_000257.4:c.2573G>C NP_000248.2:p.Arg858Pro NC_000014.9:23424874:C:G p.(Arg858Pro) NC_000014.9:23424874:C:G p.(Arg858Pro) NC_000014.9:23424874:C:G Identity +NM_000719.7:c.1753G>A NP_000710.5:p.Val585Met NC_000012.12:2567651:G:A p.(Val585Met) NC_000012.12:2567651:G:A p.(Val585Met) NC_000012.12:2567651:G:A Identity +NM_001172309.2:c.434G>T NP_001165780.1:p.Arg145Ile NC_000001.11:77926549:G:T p.(Arg145Ile) NC_000001.11:77926549:G:T p.(Arg145Ile) NC_000001.11:77926549:G:T Identity +NM_002471.4:c.635C>T NP_002462.2:p.Ala212Val NC_000014.9:23404717:G:A p.(Ala212Val) NC_000014.9:23404717:G:A p.(Ala212Val) NC_000014.9:23404717:G:A Identity +NM_005751.5:c.1900G>A NP_005742.4:p.Glu634Lys NC_000007.14:92001816:G:A p.(Glu634Lys) NC_000007.14:92001816:G:A p.(Glu634Lys) NC_000007.14:92001816:G:A Identity +NM_001148.6:c.5758G>A NP_001139.3:p.Gly1920Arg NC_000004.12:113354375:G:A p.(Gly1920Arg) NC_000004.12:113354375:G:A p.(Gly1920Arg) NC_000004.12:113354375:G:A Identity +NM_001134363.3:c.700G>A NP_001127835.2:p.Ala234Thr NC_000010.11:110781308:G:A p.(Ala234Thr) NC_000010.11:110781308:G:A p.(Ala234Thr) NC_000010.11:110781308:G:A Identity +LRG_402t1:c.6811G>A LRG_402p1:p.Gly2271Ser NC_000001.11:237638374:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_003047.5:c.1585C>T NP_003038.2:p.His529Tyr NC_000001.11:27102733:G:A p.(His529Tyr) NC_000001.11:27102733:G:A p.(His529Tyr) NC_000001.11:27102733:G:A Identity +NM_001105206.3:c.2527G>C NP_001098676.2:p.Ala843Pro NC_000006.12:112142258:C:G p.(Ala843Pro) NC_000006.12:112142258:C:G p.(Ala843Pro) NC_000006.12:112142258:C:G Identity +NM_000138.5:c.7977C>A NP_000129.3:p.Cys2659Ter NC_000015.10:48415609:G:T p.(Cys2659Ter) NC_000015.10:48415609:G:T p.(Cys2659Ter) NC_000015.10:48415609:G:T Identity +NM_001999.4:c.7201A>C NP_001990.2:p.Ser2401Arg NC_000005.10:128278778:T:G p.(Ser2401Arg) NC_000005.10:128278778:T:G p.(Ser2401Arg) NC_000005.10:128278778:T:G Identity +NM_001080510.5:c.504del NP_001073979.3:p.Glu169fs NC_000017.11:76733616:A: p.(Glu169AsnfsTer36) NC_000017.11:76733616:A: p.(Glu169AsnfsTer36) NC_000017.11:76733616:A: Analogous +NM_020435.4:c.80G>A NP_065168.2:p.Trp27Ter NC_000001.11:228157837:G:A p.(Trp27Ter) NC_000001.11:228157837:G:A p.(Trp27Ter) NC_000001.11:228157837:G:A Identity +NM_001321193.3:c.689C>T NP_001308122.1:p.Ser230Phe NC_000003.12:177050009:G:A p.(Ser230Phe) NC_000003.12:177050009:G:A p.(Ser230Phe) NC_000003.12:177050009:G:A Identity +NM_000192.3:c.38C>A NP_000183.2:p.Thr13Lys NC_000012.12:114403860:G:T p.(Thr13Lys) NC_000012.12:114403860:G:T p.(Thr13Lys) NC_000012.12:114403860:G:T Identity +NM_001171930.2:c.3241C>T NP_001165401.1:p.Arg1081Ter NC_000010.11:71712684:C:T p.(Arg1081Ter) NC_000010.11:71712684:C:T p.(Arg1081Ter) NC_000010.11:71712684:C:T Identity +NM_001291285.3:c.12131G>A NP_001278214.1:p.Gly4044Asp NC_000004.12:125468736:G:A p.(Gly4044Asp) NC_000004.12:125468736:G:A p.(Gly4044Asp) NC_000004.12:125468736:G:A Identity +NM_001304430.2:c.84T>A NP_001291359.1:p.Asn28Lys NC_000013.11:94592282:A:T p.(Asn28Lys) NC_000013.11:94592282:A:T p.(Asn28Lys) NC_000013.11:94592282:A:T Identity +NM_001256182.2:c.226G>A NP_001243111.1:p.Glu76Lys NC_000016.10:89305205:C:T p.(Glu76Lys) NC_000016.10:89305205:C:T p.(Glu76Lys) NC_000016.10:89305205:C:T Identity +NM_022095.4:c.757dup NP_071378.1:p.Arg253fs NC_000020.11:45967790:GG:GGG p.(Arg253ProfsTer29) NC_000020.11:45967790:GG:GGG p.(Arg253ProfsTer29) ERR:SPDI Analogous +NM_004501.3:c.2142G>T NP_004492.2:p.Arg714Ser NC_000001.11:244855576:C:A p.(Arg714Ser) NC_000001.11:244855576:C:A p.(Arg714Ser) NC_000001.11:244855576:C:A Identity +NM_000828.5:c.1940C>T NP_000819.4:p.Ser647Phe NC_000023.11:123428002:C:T p.(Ser647Phe) NC_000023.11:123428002:C:T p.(Ser647Phe) NC_000023.11:123428002:C:T Identity +NM_000257.4:c.4414_4416del NP_000248.2:p.Lys1472del NC_000014.9:23417255:CTTCT:CT p.(Lys1472del) NC_000014.9:23417255:CTTCT:CT p.(Lys1472del) NC_000014.9:23417255:CTT: Identity +NM_002470.4:c.3269A>C NP_002461.2:p.Gln1090Pro NC_000017.11:10638942:T:G p.(Gln1090Pro) NC_000017.11:10638942:T:G p.(Gln1090Pro) NC_000017.11:10638942:T:G Identity +NM_018136.5:c.6152del NP_060606.3:p.Gln2051fs NC_000001.11:197103098:T: p.(Gln2051ArgfsTer22) NC_000001.11:197103098:T: p.(Gln2051ArgfsTer22) NC_000001.11:197103098:T: Analogous +NM_000054.7:c.382_384del NP_000045.1:p.Tyr128del NC_000023.11:153905886:CTAC:C p.(Tyr128del) NC_000023.11:153905886:CTAC:C p.(Tyr128del) NC_000023.11:153905887:TAC: Identity +NM_001197104.2:c.11530dup NP_001184033.1:p.Arg3844fs NC_000011.10:118521302:CC:CCC p.(Arg3844ProfsTer6) NC_000011.10:118521302:CC:CCC p.(Arg3844ProfsTer6) ERR:SPDI Analogous +NM_001321309.2:c.41C>T NP_001308238.1:p.Pro14Leu NC_000003.12:123738915:G:A p.(Pro14Leu) NC_000003.12:123738915:G:A p.(Pro14Leu) NC_000003.12:123738915:G:A Identity +NM_001999.4:c.1234G>A NP_001990.2:p.Glu412Lys NC_000005.10:128393365:C:T p.(Glu412Lys) NC_000005.10:128393365:C:T p.(Glu412Lys) NC_000005.10:128393365:C:T Identity +NM_001040113.2:c.1076C>T NP_001035202.1:p.Ser359Leu NC_000016.10:15763869:G:A p.(Ser359Leu) NC_000016.10:15763869:G:A p.(Ser359Leu) NC_000016.10:15763869:G:A Identity +NM_001318872.2:c.801C>G NP_001305801.1:p.Tyr267Ter NC_000006.12:5431068:C:G p.(Tyr267Ter) NC_000006.12:5431068:C:G p.(Tyr267Ter) NC_000006.12:5431068:C:G Identity +NM_017780.4:c.5387T>A NP_060250.2:p.Ile1796Asn NC_000008.11:60849136:T:A p.(Ile1796Asn) NC_000008.11:60849136:T:A p.(Ile1796Asn) NC_000008.11:60849136:T:A Identity +NM_001329939.2:c.1055G>A NP_001316868.1:p.Arg352His NC_000014.9:75960947:C:T p.(Arg352His) NC_000014.9:75960947:C:T p.(Arg352His) NC_000014.9:75960947:C:T Identity +NM_001329939.2:c.1102_1105del NP_001316868.1:p.Leu368fs NC_000014.9:75959320:TCAG: p.(Leu368ThrfsTer18) NC_000014.9:75959320:TCAG: p.(Leu368ThrfsTer18) NC_000014.9:75959320:TCAG: Analogous +NM_020433.5:c.1799C>G NP_065166.2:p.Ala600Gly NC_000020.11:44115875:G:C p.(Ala600Gly) NC_000020.11:44115875:G:C p.(Ala600Gly) NC_000020.11:44115875:G:C Identity +NM_001256850.1:c.67903del NP_001243779.1:p.Thr22635fs NC_000002.12:178573305:TTTTTTT:TTTTTT p.(Thr22635LeufsTer5) NC_000002.12:178573305:TTTTTTT:TTTTTT p.(Thr22635LeufsTer5) NC_000002.12:178573305:T: Analogous +NM_001145102.2:c.556G>T NP_001138574.1:p.Gly186Ter NC_000015.10:67181452:G:T p.(Gly186Ter) NC_000015.10:67181452:G:T p.(Gly186Ter) NC_000015.10:67181452:G:T Identity +NM_006393.3:c.791C>T NP_006384.1:p.Ala264Val NC_000010.11:20859719:G:A p.(Ala264Val) NC_000010.11:20859719:G:A p.(Ala264Val) NC_000010.11:20859719:G:A Identity +NM_002437.5:c.293del NP_002428.1:p.Pro98fs NC_000002.12:27312575:GGGG:GGG p.(Pro98ArgfsTer4) NC_000002.12:27312575:GGGG:GGG p.(Pro98ArgfsTer4) NC_000002.12:27312575:G: Analogous +NM_000064.4:c.3908G>A NP_000055.2:p.Arg1303His NC_000019.10:6685048:C:T p.(Arg1303His) NC_000019.10:6685048:C:T p.(Arg1303His) NC_000019.10:6685048:C:T Identity +NM_005357.4:c.3103G>T NP_005348.2:p.Glu1035Ter NC_000019.10:42401939:C:A p.(Glu1035Ter) NC_000019.10:42401939:C:A p.(Glu1035Ter) NC_000019.10:42401939:C:A Identity +NM_001040633.2:c.1549G>C NP_001035723.1:p.Ala517Pro NC_000007.14:151557229:C:G p.(Ala517Pro) NC_000007.14:151557229:C:G p.(Ala517Pro) NC_000007.14:151557229:C:G Identity +NM_001193416.3:c.1276_1279del NP_001180345.1:p.Asp426fs NC_000023.11:41345506:CAGACA:CA p.(Asp426AsnfsTer9) NC_000023.11:41345506:CAGACA:CA p.(Asp426AsnfsTer9) NC_000023.11:41345508:GACA: Analogous +NM_000832.7:c.1645A>C NP_000823.4:p.Ser549Arg NC_000009.12:137162183:A:C p.(Ser549Arg) NC_000009.12:137162183:A:C p.(Ser549Arg) NC_000009.12:137162183:A:C Identity +NM_000109.4:c.2008C>G NP_000100.3:p.Gln670Glu NC_000023.11:32545294:G:C p.(Gln670Glu) NC_000023.11:32545294:G:C p.(Gln670Glu) NC_000023.11:32545294:G:C Identity +NM_001142350.3:c.259C>T NP_001135822.1:p.Arg87Ter NC_000016.10:3026100:C:T p.(Arg87Ter) NC_000016.10:3026100:C:T p.(Arg87Ter) NC_000016.10:3026100:C:T Identity +NM_020732.3:c.1618C>T NP_065783.3:p.Gln540Ter NC_000006.12:156829301:C:T ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_001350783.1:c.142C>T NP_001337712.1:p.Gln48Ter NC_000001.11:155612097:C:T p.(Gln48Ter) NC_000001.11:155612097:C:T p.(Gln48Ter) NC_000001.11:155612097:C:T Identity +NM_001318360.2:c.914T>C NP_001305289.1:p.Leu305Pro NC_000009.12:108911113:A:G p.(Leu305Pro) NC_000009.12:108911113:A:G p.(Leu305Pro) NC_000009.12:108911113:A:G Identity +NM_152268.4:c.323A>G NP_689481.2:p.Glu108Gly NC_000001.11:54758838:T:C p.(Glu108Gly) NC_000001.11:54758838:T:C p.(Glu108Gly) NC_000001.11:54758838:T:C Identity +NM_001080510.5:c.178del NP_001073979.3:p.Glu60fs NC_000017.11:76733069:GG:G p.(Glu60LysfsTer9) NC_000017.11:76733069:GG:G p.(Glu60LysfsTer9) NC_000017.11:76733070:G: Analogous +NM_001369.3:c.7915C>T NP_001360.1:p.Arg2639Ter NC_000005.10:13794030:G:A p.(Arg2639Ter) NC_000005.10:13794030:G:A p.(Arg2639Ter) NC_000005.10:13794030:G:A Identity +NM_001202464.3:c.910C>T NP_001189393.1:p.Arg304Ter NC_000010.11:246886:C:T p.(Arg304Ter) NC_000010.11:246886:C:T p.(Arg304Ter) NC_000010.11:246886:C:T Identity +NM_001032381.2:c.232C>T NP_001027553.1:p.Pro78Ser NC_000023.11:48901981:C:T p.(Pro78Ser) NC_000023.11:48901981:C:T p.(Pro78Ser) NC_000023.11:48901981:C:T Identity +NM_017890.5:c.5401G>T NP_060360.3:p.Val1801Phe NC_000008.11:99641915:G:T p.(Val1801Phe) NC_000008.11:99641915:G:T p.(Val1801Phe) NC_000008.11:99641915:G:T Identity +NM_001178032.3:c.381dup NP_001171503.1:p.Ile128fs NC_000023.11:64919152:GGGGGG:GGGGGGG p.(Ile128HisfsTer3) NC_000023.11:64919152:GGGGGG:GGGGGGG p.(Ile128HisfsTer3) ERR:SPDI Analogous +NM_014727.3:c.5724_5751del NP_055542.1:p.Pro1909fs NC_000019.10:35732265:TCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGC:TCCCAGC p.(Pro1909LeufsTer16) NC_000019.10:35732265:TCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGC:TCCCAGC p.(Pro1909LeufsTer16) NC_000019.10:35732272:TCCCCCCAGACGTTCCCGTCGTCCCAGC: Analogous +NM_000509.6:c.1030G>A NP_000500.2:p.Asp344Asn NC_000004.12:154606803:C:T p.(Asp344Asn) NC_000004.12:154606803:C:T p.(Asp344Asn) NC_000004.12:154606803:C:T Identity +NM_007118.4:c.4571A>G NP_009049.2:p.Asp1524Gly NC_000005.10:14399026:A:G p.(Asp1524Gly) NC_000005.10:14399026:A:G p.(Asp1524Gly) NC_000005.10:14399026:A:G Identity +NM_001031804.3:c.170C>T NP_001026974.1:p.Ser57Phe NC_000016.10:79599732:G:A p.(Ser57Phe) NC_000016.10:79599732:G:A p.(Ser57Phe) NC_000016.10:79599732:G:A Identity +NM_001135659.3:c.589G>C NP_001129131.1:p.Val197Leu NC_000002.12:51027684:C:G p.(Val197Leu) NC_000002.12:51027684:C:G p.(Val197Leu) NC_000002.12:51027684:C:G Identity +NM_001145265.2:c.962C>A NP_001138737.1:p.Ser321Tyr NC_000011.10:45811240:C:A p.(Ser321Tyr) NC_000011.10:45811240:C:A p.(Ser321Tyr) NC_000011.10:45811240:C:A Identity +NM_001002800.3:c.1513G>T NP_001002800.1:p.Glu505Ter NC_000003.12:160417797:G:T p.(Glu505Ter) NC_000003.12:160417797:G:T p.(Glu505Ter) NC_000003.12:160417797:G:T Identity +NM_001081560.3:c.1822G>T NP_001075029.1:p.Ala608Ser NC_000019.10:45770540:C:A p.(Ala608Ser) NC_000019.10:45770540:C:A p.(Ala608Ser) NC_000019.10:45770540:C:A Identity +NM_005862.3:c.1129C>T NP_005853.2:p.Arg377Cys NC_000003.12:136472488:G:A p.(Arg377Cys) NC_000003.12:136472488:G:A p.(Arg377Cys) NC_000003.12:136472488:G:A Identity +NM_015384.5:c.4829T>C NP_056199.2:p.Leu1610Pro NC_000005.10:37017070:T:C p.(Leu1610Pro) NC_000005.10:37017070:T:C p.(Leu1610Pro) NC_000005.10:37017070:T:C Identity +NM_003737.4:c.5567C>A NP_003728.1:p.Pro1856His NC_000011.10:6627471:G:T p.(Pro1856His) NC_000011.10:6627471:G:T p.(Pro1856His) NC_000011.10:6627471:G:T Identity +NM_006036.4:c.1235T>G NP_006027.2:p.Ile412Arg NC_000002.12:44332576:A:C p.(Ile412Arg) NC_000002.12:44332576:A:C p.(Ile412Arg) NC_000002.12:44332576:A:C Identity +NM_001350888.2:c.1949T>G NP_001337817.1:p.Leu650Arg NC_000014.9:96486940:T:G p.(Leu650Arg) NC_000014.9:96486940:T:G p.(Leu650Arg) NC_000014.9:96486940:T:G Identity +NM_000335.5:c.4165A>G NP_000326.2:p.Thr1389Ala NC_000003.12:38560223:T:C p.(Thr1389Ala) NC_000003.12:38560223:T:C p.(Thr1389Ala) NC_000003.12:38560223:T:C Identity +NM_000218.3:c.94A>T NP_000209.2:p.Lys32Ter NC_000011.10:2445191:A:T p.(Lys32Ter) NC_000011.10:2445191:A:T p.(Lys32Ter) NC_000011.10:2445191:A:T Identity +NM_018136.5:c.6082C>T NP_060606.3:p.Gln2028Ter NC_000001.11:197103168:G:A p.(Gln2028Ter) NC_000001.11:197103168:G:A p.(Gln2028Ter) NC_000001.11:197103168:G:A Identity +NM_001305005.3:c.190G>A NP_001291934.1:p.Gly64Arg NC_000002.12:107992116:G:A p.(Gly64Arg) NC_000002.12:107992116:G:A p.(Gly64Arg) NC_000002.12:107992116:G:A Identity +NM_001308211.1:c.687C>G NP_001295140.1:p.His229Gln NC_000016.10:23535158:G:C p.(His229Gln) NC_000016.10:23535158:G:C p.(His229Gln) NC_000016.10:23535158:G:C Identity +NM_001098268.2:c.613del NP_001091738.1:p.Ser205fs NC_000013.11:108210655:AAAA:AAA p.(Ser205LeufsTer29) NC_000013.11:108210655:AAAA:AAA p.(Ser205LeufsTer29) NC_000013.11:108210655:A: Analogous +NM_001193465.2:c.2759A>G NP_001180394.1:p.His920Arg NC_000017.11:46033154:T:C p.(His920Arg) NC_000017.11:46033154:T:C p.(His920Arg) NC_000017.11:46033154:T:C Identity +NM_001330311.2:c.1579del NP_001317240.1:p.His527fs NC_000001.11:1338111:GGGG:GGG p.(His527ThrfsTer147) NC_000001.11:1338111:GGGG:GGG p.(His527ThrfsTer147) NC_000001.11:1338111:G: Analogous +NM_001081550.2:c.3242G>A NP_001075019.1:p.Gly1081Asp NC_000023.11:123624135:C:T p.(Gly1081Asp) NC_000023.11:123624135:C:T p.(Gly1081Asp) NC_000023.11:123624135:C:T Identity +NM_020971.3:c.2052_2071dup NP_066022.2:p.Leu691fs NC_000019.10:40512839:CAGCGGGCGGCGCGCATGACC:CAGCGGGCGGCGCGCATGACCAGCGGGCGGCGCGCATGACC p.(Leu691GlnfsTer59) NC_000019.10:40512839:CAGCGGGCGGCGCGCATGACC:CAGCGGGCGGCGCGCATGACCAGCGGGCGGCGCGCATGACC p.(Leu691GlnfsTer59) ERR:SPDI Analogous +NM_001844.5:c.2789G>A NP_001835.3:p.Gly930Asp NC_000012.12:47978702:C:T p.(Gly930Asp) NC_000012.12:47978702:C:T p.(Gly930Asp) NC_000012.12:47978702:C:T Identity +NM_000751.3:c.1345_1346del NP_000742.1:p.Met449fs NC_000002.12:232534315:AT: p.(Met449GlufsTer8) NC_000002.12:232534315:AT: p.(Met449GlufsTer8) NC_000002.12:232534315:AT: Analogous +NM_001365999.1:c.5516G>A NP_001352928.1:p.Arg1839His NC_000001.11:43432589:G:A p.(Arg1839His) NC_000001.11:43432589:G:A p.(Arg1839His) NC_000001.11:43432589:G:A Identity +NM_003718.5:c.478G>C NP_003709.3:p.Gly160Arg NC_000007.14:39951118:G:C p.(Gly160Arg) NC_000007.14:39951118:G:C p.(Gly160Arg) NC_000007.14:39951118:G:C Identity +NM_001099952.4:c.799A>G NP_001093422.2:p.Thr267Ala NC_000003.12:4645671:A:G p.(Thr267Ala) NC_000003.12:4645671:A:G p.(Thr267Ala) NC_000003.12:4645671:A:G Identity +NM_001271.4:c.1532T>C NP_001262.3:p.Met511Thr NC_000015.10:92953385:T:C p.(Met511Thr) NC_000015.10:92953385:T:C p.(Met511Thr) NC_000015.10:92953385:T:C Identity +NM_015884.4:c.290C>T NP_056968.1:p.Thr97Met NC_000023.11:21845235:C:T p.(Thr97Met) NC_000023.11:21845235:C:T p.(Thr97Met) NC_000023.11:21845235:C:T Identity +NM_000484.4:c.1505A>C NP_000475.1:p.Gln502Pro NC_000021.9:25955708:T:G p.(Gln502Pro) NC_000021.9:25955708:T:G p.(Gln502Pro) NC_000021.9:25955708:T:G Identity +NM_001110792.2:c.348G>T NP_001104262.1:p.Trp116Cys NC_000023.11:154032271:C:A p.(Trp116Cys) NC_000023.11:154032271:C:A p.(Trp116Cys) NC_000023.11:154032271:C:A Identity +NM_001365684.2:c.2576_2577GT[1] NP_001352613.2:p.Val860Lysfs NC_000005.10:177211847:GTGT:GT p.(Val860LysfsTer6) NC_000005.10:177211847:GT:GT ERR:Parse ERR:Parse Analogous +NM_001146702.2:c.2569C>T NP_001140174.1:p.Gln857Ter NC_000023.11:53196896:G:A p.(Gln857Ter) NC_000023.11:53196896:G:A p.(Gln857Ter) NC_000023.11:53196896:G:A Identity +NM_017780.4:c.6143_6144del NP_060250.2:p.Glu2048fs NC_000008.11:60852865:AGAG:AG p.(Glu2048GlyfsTer11) NC_000008.11:60852865:AGAG:AG p.(Glu2048GlyfsTer11) NC_000008.11:60852867:AG: Analogous +NM_001313726.2:c.2002A>T NP_001300655.1:p.Ile668Phe NC_000011.10:26599696:A:T p.(Ile668Phe) NC_000011.10:26599696:A:T p.(Ile668Phe) NC_000011.10:26599696:A:T Identity +NM_001178075.2:c.970A>T NP_001171546.1:p.Met324Leu NC_000007.14:97855456:T:A p.(Met324Leu) NC_000007.14:97855456:T:A p.(Met324Leu) NC_000007.14:97855456:T:A Identity +NM_001243372.2:c.32A>G NP_001230301.1:p.Tyr11Cys NC_000004.12:169635959:A:G p.(Tyr11Cys) NC_000004.12:169635959:A:G p.(Tyr11Cys) NC_000004.12:169635959:A:G Identity +NM_001042424.3:c.2605T>C NP_001035889.1:p.Cys869Arg NC_000004.12:1955778:T:C p.(Cys869Arg) NC_000004.12:1955778:T:C p.(Cys869Arg) NC_000004.12:1955778:T:C Identity +NM_000489.6:c.2304G>C NP_000480.3:p.Lys768Asn NC_000023.11:77682951:C:G p.(Lys768Asn) NC_000023.11:77682951:C:G p.(Lys768Asn) NC_000023.11:77682951:C:G Identity +NM_001165963.4:c.841C>A NP_001159435.1:p.Pro281Thr NC_000002.12:166051841:G:T p.(Pro281Thr) NC_000002.12:166051841:G:T p.(Pro281Thr) NC_000002.12:166051841:G:T Identity +NM_001136029.4:c.4148C>T NP_001129501.1:p.Ala1383Val NC_000022.11:31893722:C:T p.(Ala1383Val) NC_000022.11:31893722:C:T p.(Ala1383Val) NC_000022.11:31893722:C:T Identity +NM_152594.3:c.493dup NP_689807.1:p.Ser165fs NC_000015.10:38339805:A:AA p.(Ser165LysfsTer2) NC_000015.10:38339805:A:AA p.(Ser165LysfsTer2) ERR:SPDI Analogous +NM_015335.5:c.6331C>T NP_056150.1:p.Gln2111Ter NC_000012.12:115966137:G:A p.(Gln2111Ter) NC_000012.12:115966137:G:A p.(Gln2111Ter) NC_000012.12:115966137:G:A Identity +LRG_1212t1:c.2433_2434del LRG_1212p1:p.Ala813fs NC_000001.11:154590245:CT: ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_005267.5:c.136G>A NP_005258.2:p.Gly46Arg NC_000001.11:147908090:G:A p.(Gly46Arg) NC_000001.11:147908090:G:A p.(Gly46Arg) NC_000001.11:147908090:G:A Identity +NM_003482.4:c.13986_13993dup NP_003473.3:p.Leu4665fs NC_000012.12:49030285:GTGCCCTT:GTGCCCTTGTGCCCTT p.(Leu4665GlnfsTer4) NC_000012.12:49030285:GTGCCCTT:GTGCCCTTGTGCCCTT p.(Leu4665GlnfsTer4) ERR:SPDI Analogous +NM_001371271.1:c.1643C>T NP_001358200.1:p.Ser548Leu NC_000002.12:120982839:C:T p.(Ser548Leu) NC_000002.12:120982839:C:T p.(Ser548Leu) NC_000002.12:120982839:C:T Identity +NM_016628.5:c.1894C>T NP_057712.2:p.Gln632Ter NC_000010.11:28619555:C:T p.(Gln632Ter) NC_000010.11:28619555:C:T p.(Gln632Ter) NC_000010.11:28619555:C:T Identity +NM_014516.4:c.1440dup NP_055331.1:p.Gly481fs NC_000019.10:54149592:T:TT p.(Gly481TrpfsTer34) NC_000019.10:54149592:T:TT p.(Gly481TrpfsTer34) ERR:SPDI Analogous +NM_001164796.1:c.37G>A NP_001158268.1:p.Val13Ile NC_000003.12:66262050:G:A p.(Val13Ile) NC_000003.12:66262050:G:A p.(Val13Ile) NC_000003.12:66262050:G:A Identity +NM_001042681.2:c.3265C>G NP_001036146.1:p.Pro1089Ala NC_000001.11:8360241:G:C p.(Pro1089Ala) NC_000001.11:8360241:G:C p.(Pro1089Ala) NC_000001.11:8360241:G:C Identity +NM_000435.3:c.6239G>A NP_000426.2:p.Arg2080Gln NC_000019.10:15161388:C:T p.(Arg2080Gln) NC_000019.10:15161388:C:T p.(Arg2080Gln) NC_000019.10:15161388:C:T Identity +NM_000378.6:c.341C>T NP_000369.4:p.Ala114Val NC_000011.10:32435019:G:A p.(Ala114Val) NC_000011.10:32435019:G:A p.(Ala114Val) NC_000011.10:32435019:G:A Identity +NM_001349370.3:c.3239C>T NP_001336299.1:p.Ala1080Val NC_000003.12:47121264:G:A p.(Ala1080Val) NC_000003.12:47121264:G:A p.(Ala1080Val) NC_000003.12:47121264:G:A Identity +NM_001372076.1:c.217G>T NP_001359005.1:p.Gly73Cys NC_000014.9:36663108:G:T p.(Gly73Cys) NC_000014.9:36663108:G:T p.(Gly73Cys) NC_000014.9:36663108:G:T Identity +NM_001288738.2:c.1399C>T NP_001275667.1:p.Arg467Cys NC_000009.12:128234083:C:T p.(Arg467Cys) NC_000009.12:128234083:C:T p.(Arg467Cys) NC_000009.12:128234083:C:T Identity +NM_000245.4:c.143C>T NP_000236.2:p.Ala48Val NC_000007.14:116699226:C:T p.(Ala48Val) NC_000007.14:116699226:C:T p.(Ala48Val) NC_000007.14:116699226:C:T Identity +LRG_386t1:c.205C>T LRG_386p1:p.Arg69Trp NC_000011.10:47351325:G:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000404.4:c.146G>A NP_000395.3:p.Arg49His NC_000003.12:33072642:C:T p.(Arg49His) NC_000003.12:33072642:C:T p.(Arg49His) NC_000003.12:33072642:C:T Identity +NM_001256182.2:c.7327C>T NP_001243111.1:p.Gln2443Ter NC_000016.10:89279214:G:A p.(Gln2443Ter) NC_000016.10:89279214:G:A p.(Gln2443Ter) NC_000016.10:89279214:G:A Identity +NM_000278.5:c.890C>G NP_000269.3:p.Ser297Ter NC_000010.11:100809206:C:G p.(Ser297Ter) NC_000010.11:100809206:C:G p.(Ser297Ter) NC_000010.11:100809206:C:G Identity +NM_001844.5:c.1061G>T NP_001835.3:p.Gly354Val NC_000012.12:47989767:C:A p.(Gly354Val) NC_000012.12:47989767:C:A p.(Gly354Val) NC_000012.12:47989767:C:A Identity +NM_001005271.3:c.3082A>G NP_001005271.2:p.Lys1028Glu NC_000017.11:7900657:A:G p.(Lys1028Glu) NC_000017.11:7900657:A:G p.(Lys1028Glu) NC_000017.11:7900657:A:G Identity +NM_001160227.2:c.6539G>A NP_001153699.1:p.Arg2180Gln NC_000015.10:44565974:C:T p.(Arg2180Gln) NC_000015.10:44565974:C:T p.(Arg2180Gln) NC_000015.10:44565974:C:T Identity +NM_007123.6:c.667dup NP_009054.6:p.Ile223fs NC_000001.11:216365069:TTTTT:TTTTTT p.(Ile223AsnfsTer100) NC_000001.11:216365069:TTTTT:TTTTTT p.(Ile223AsnfsTer100) ERR:SPDI Analogous +NM_001134670.2:c.383T>C NP_001128142.1:p.Ile128Thr NC_000010.11:97611546:T:C p.(Ile128Thr) NC_000010.11:97611546:T:C p.(Ile128Thr) NC_000010.11:97611546:T:C Identity +NM_001365819.1:c.4303T>G NP_001352748.1:p.Leu1435Val NC_000022.11:50455399:A:C p.(Leu1435Val) NC_000022.11:50455399:A:C p.(Leu1435Val) NC_000022.11:50455399:A:C Identity +NM_001171930.2:c.2410G>A NP_001165401.1:p.Asp804Asn NC_000010.11:71702033:G:A p.(Asp804Asn) NC_000010.11:71702033:G:A p.(Asp804Asn) NC_000010.11:71702033:G:A Identity +NM_001077261.4:c.5282G>A NP_001070729.2:p.Arg1761His NC_000012.12:124340627:C:T p.(Arg1761His) NC_000012.12:124340627:C:T p.(Arg1761His) NC_000012.12:124340627:C:T Identity +NM_000817.3:c.1672C>T NP_000808.2:p.Pro558Ser NC_000002.12:170859768:C:T p.(Pro558Ser) NC_000002.12:170859768:C:T p.(Pro558Ser) NC_000002.12:170859768:C:T Identity +NM_001256850.1:c.1771C>T NP_001243779.1:p.Gln591Ter NC_000002.12:178790736:G:A p.(Gln591Ter) NC_000002.12:178790736:G:A p.(Gln591Ter) NC_000002.12:178790736:G:A Identity +NM_020381.4:c.1190_1191del NP_065114.3:p.Arg397fs NC_000006.12:107154627:TCT:T p.(Arg397IlefsTer7) NC_000006.12:107154627:TCT:T p.(Arg397IlefsTer7) NC_000006.12:107154627:TC: Analogous +NM_001271043.2:c.244C>G NP_001257972.1:p.Arg82Gly NC_000019.10:13025212:C:G p.(Arg82Gly) NC_000019.10:13025212:C:G p.(Arg82Gly) NC_000019.10:13025212:C:G Identity +NM_001199954.3:c.206A>G NP_001186883.1:p.Tyr69Cys NC_000017.11:81512059:T:C p.(Tyr69Cys) NC_000017.11:81512059:T:C p.(Tyr69Cys) NC_000017.11:81512059:T:C Identity +NM_000059.4:c.3845C>T NP_000050.3:p.Thr1282Ile NC_000013.11:32338199:C:T p.(Thr1282Ile) NC_000013.11:32338199:C:T p.(Thr1282Ile) NC_000013.11:32338199:C:T Identity +NM_017802.4:c.2425A>G NP_060272.3:p.Ile809Val NC_000007.14:780137:A:G p.(Ile809Val) NC_000007.14:780137:A:G p.(Ile809Val) NC_000007.14:780137:A:G Identity +NM_005559.4:c.2663G>T NP_005550.2:p.Gly888Val NC_000018.10:7023201:C:A p.(Gly888Val) NC_000018.10:7023201:C:A p.(Gly888Val) NC_000018.10:7023201:C:A Identity +NM_014239.4:c.922G>A NP_055054.1:p.Val308Met NC_000014.9:75009053:G:A p.(Val308Met) NC_000014.9:75009053:G:A p.(Val308Met) NC_000014.9:75009053:G:A Identity +NM_017547.4:c.632G>C NP_060017.1:p.Gly211Ala NC_000011.10:126275326:G:C p.(Gly211Ala) NC_000011.10:126275326:G:C p.(Gly211Ala) NC_000011.10:126275326:G:C Identity +NM_001308164.2:c.395A>C NP_001295093.1:p.Glu132Ala NC_000003.12:158646769:A:C p.(Glu132Ala) NC_000003.12:158646769:A:C p.(Glu132Ala) NC_000003.12:158646769:A:C Identity +NM_001130066.2:c.1630C>T NP_001123538.1:p.Arg544Ter NC_000006.12:33438872:C:T p.(Arg544Ter) NC_000006.12:33438872:C:T p.(Arg544Ter) NC_000006.12:33438872:C:T Identity +NM_002291.3:c.4393G>A NP_002282.2:p.Val1465Ile NC_000007.14:107931499:C:T p.(Val1465Ile) NC_000007.14:107931499:C:T p.(Val1465Ile) NC_000007.14:107931499:C:T Identity +NM_022454.4:c.456G>C NP_071899.1:p.Glu152Asp NC_000008.11:54459205:G:C p.(Glu152Asp) NC_000008.11:54459205:G:C p.(Glu152Asp) NC_000008.11:54459205:G:C Identity +NM_001004426.3:c.834G>C NP_001004426.1:p.Gln278His NC_000022.11:38135047:C:G p.(Gln278His) NC_000022.11:38135047:C:G p.(Gln278His) NC_000022.11:38135047:C:G Identity +NM_000271.5:c.1171G>T NP_000262.2:p.Glu391Ter NC_000018.10:23556397:C:A p.(Glu391Ter) NC_000018.10:23556397:C:A p.(Glu391Ter) NC_000018.10:23556397:C:A Identity +NM_000535.7:c.298C>G NP_000526.2:p.Gln100Glu NC_000007.14:6003744:G:C p.(Gln100Glu) NC_000007.14:6003744:G:C p.(Gln100Glu) NC_000007.14:6003744:G:C Identity +LRG_1150t1:c.2614G>A LRG_1150p1:p.Gly872Arg NC_000018.10:44951953:G:A ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1150t1, alt_ac=LRG_1150t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1150t1 not found +NM_001080463.2:c.9614A>G NP_001073932.1:p.Gln3205Arg NC_000011.10:103235717:A:G p.(Gln3205Arg) NC_000011.10:103235717:A:G p.(Gln3205Arg) NC_000011.10:103235717:A:G Identity +NM_001278632.1:c.1172C>T NP_001265561.1:p.Pro391Leu NC_000005.10:1878356:G:A p.(Pro391Leu) NC_000005.10:1878356:G:A p.(Pro391Leu) NC_000005.10:1878356:G:A Identity +NM_001256468.2:c.2850_2853del NP_001243397.1:p.Arg950fs NC_000010.11:75024983:GGGT: p.(Arg950SerfsTer11) NC_000010.11:75024983:GGGT: p.(Arg950SerfsTer11) NC_000010.11:75024983:GGGT: Analogous +NM_001308122.2:c.361C>T NP_001295051.1:p.Gln121Ter NC_000005.10:132370332:C:T p.(Gln121Ter) NC_000005.10:132370332:C:T p.(Gln121Ter) NC_000005.10:132370332:C:T Identity +NM_001178014.2:c.430G>A NP_001171485.1:p.Glu144Lys NC_000003.12:136259232:G:A p.(Glu144Lys) NC_000003.12:136259232:G:A p.(Glu144Lys) NC_000003.12:136259232:G:A Identity +NM_000260.4:c.3151G>C NP_000251.3:p.Asp1051His NC_000011.10:77182465:G:C p.(Asp1051His) NC_000011.10:77182465:G:C p.(Asp1051His) NC_000011.10:77182465:G:C Identity +NM_000138.5:c.3795T>A NP_000129.3:p.Cys1265Ter NC_000015.10:48483860:A:T p.(Cys1265Ter) NC_000015.10:48483860:A:T p.(Cys1265Ter) NC_000015.10:48483860:A:T Identity +NM_001371401.1:c.413G>A NP_001358330.1:p.Arg138His NC_000009.12:135503654:G:A p.(Arg138His) NC_000009.12:135503654:G:A p.(Arg138His) NC_000009.12:135503654:G:A Identity +NM_001321080.2:c.1858C>T NP_001308009.1:p.Arg620Ter NC_000006.12:104771948:G:A p.(Arg620Ter) NC_000006.12:104771948:G:A p.(Arg620Ter) NC_000006.12:104771948:G:A Identity +LRG_1194t1:c.3679C>T LRG_1194p1:p.Gln1227Ter NC_000023.11:53235006:G:A ERR:Data provider error: ValueError: Transcript LRG_1194t1 not found ERR:Data provider error: ValueError: Transcript LRG_1194t1 not found ERR:AlignmentMapper(tx_ac=LRG_1194t1, alt_ac=LRG_1194t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1194t1, alt_ac=LRG_1194t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1194t1 not found +NM_001168398.2:c.822_823del NP_001161870.1:p.Arg274fs NC_000006.12:87511505:GAGAGAG:GAGAG p.(Arg274SerfsTer23) NC_000006.12:87511505:GAGAGAG:GAGAG p.(Arg274SerfsTer23) NC_000006.12:87511510:AG: Analogous +NM_006392.4:c.452G>C NP_006383.2:p.Ser151Thr NC_000020.11:2654829:G:C p.(Ser151Thr) NC_000020.11:2654829:G:C p.(Ser151Thr) NC_000020.11:2654829:G:C Identity +NM_019074.4:c.1310G>C NP_061947.1:p.Cys437Ser NC_000015.10:40936296:G:C p.(Cys437Ser) NC_000015.10:40936296:G:C p.(Cys437Ser) NC_000015.10:40936296:G:C Identity +NM_001145527.2:c.1588C>T NP_001138999.1:p.Arg530Ter NC_000009.12:137762760:C:T p.(Arg530Ter) NC_000009.12:137762760:C:T p.(Arg530Ter) NC_000009.12:137762760:C:T Identity +NM_000051.4:c.1320_1321del NP_000042.3:p.Gln441fs NC_000011.10:108250782:TCTC:TC p.(Gln441AlafsTer45) NC_000011.10:108250782:TCTC:TC p.(Gln441AlafsTer45) NC_000011.10:108250784:TC: Analogous +NM_000051.4:c.5507A>T NP_000042.3:p.Asp1836Val NC_000011.10:108304684:A:T p.(Asp1836Val) NC_000011.10:108304684:A:T p.(Asp1836Val) NC_000011.10:108304684:A:T Identity +NM_000051.4:c.4163C>G NP_000042.3:p.Ala1388Gly NC_000011.10:108289029:C:G p.(Ala1388Gly) NC_000011.10:108289029:C:G p.(Ala1388Gly) NC_000011.10:108289029:C:G Identity +NM_206933.4:c.15267_15275delinsC NP_996816.3:p.Leu5089fs NC_000001.11:215634480:TAAACATTC:G p.(Leu5089PhefsTer86) NC_000001.11:215634480:TAAACATTC:G p.(Leu5089PhefsTer86) NC_000001.11:215634480:TAAACATTC:G Analogous +NM_000051.4:c.5402A>G NP_000042.3:p.Asn1801Ser NC_000011.10:108302934:A:G p.(Asn1801Ser) NC_000011.10:108302934:A:G p.(Asn1801Ser) NC_000011.10:108302934:A:G Identity +NM_000051.4:c.2363G>A NP_000042.3:p.Ser788Asn NC_000011.10:108257592:G:A p.(Ser788Asn) NC_000011.10:108257592:G:A p.(Ser788Asn) NC_000011.10:108257592:G:A Identity +NM_001166292.2:c.703C>T NP_001159764.1:p.Arg235Trp NC_000001.11:44830957:G:A p.(Arg235Trp) NC_000001.11:44830957:G:A p.(Arg235Trp) NC_000001.11:44830957:G:A Identity +NM_001178133.2:c.682A>G NP_001171604.1:p.Ile228Val NC_000010.11:102593719:A:G p.(Ile228Val) NC_000010.11:102593719:A:G p.(Ile228Val) NC_000010.11:102593719:A:G Identity +NM_022455.5:c.7180A>G NP_071900.2:p.Ile2394Val NC_000005.10:177294547:A:G p.(Ile2394Val) NC_000005.10:177294547:A:G p.(Ile2394Val) NC_000005.10:177294547:A:G Identity +NM_000057.4:c.2917T>A NP_000048.1:p.Tyr973Asn NC_000015.10:90790741:T:A p.(Tyr973Asn) NC_000015.10:90790741:T:A p.(Tyr973Asn) NC_000015.10:90790741:T:A Identity +NM_000057.4:c.1863G>C NP_000048.1:p.Glu621Asp NC_000015.10:90761235:G:C p.(Glu621Asp) NC_000015.10:90761235:G:C p.(Glu621Asp) NC_000015.10:90761235:G:C Identity +NM_001166292.2:c.311T>C NP_001159764.1:p.Leu104Pro NC_000001.11:44832295:A:G p.(Leu104Pro) NC_000001.11:44832295:A:G p.(Leu104Pro) NC_000001.11:44832295:A:G Identity +LRG_533t1:c.539C>T LRG_533p1:p.Pro180Leu NC_000011.10:2884950:G:A ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_001365684.2:c.4564_4567delTTCC NP_001352613.2:p.Phe1522Leufs NC_000005.10:177269733:CTTCC:C p.(Phe1522LeufsTer7) NC_000005.10:177269733:CTTCC:C p.(Phe1522LeufsTer7) NC_000005.10:177269734:TTCC: Analogous +LRG_533t1:c.341C>T LRG_533p1:p.Ala114Val NC_000011.10:2885148:G:A ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_001365684.2:c.6272C>T NP_001352613.2:p.Thr2091Ile NC_000005.10:177294512:C:T p.(Thr2091Ile) NC_000005.10:177294512:C:T p.(Thr2091Ile) NC_000005.10:177294512:C:T Identity +NM_000257.4:c.4783G>A NP_000248.2:p.Asp1595Asn NC_000014.9:23416173:C:T p.(Asp1595Asn) NC_000014.9:23416173:C:T p.(Asp1595Asn) NC_000014.9:23416173:C:T Identity +NM_000081.4:c.6898T>G NP_000072.2:p.Leu2300Val NC_000001.11:235757441:A:C p.(Leu2300Val) NC_000001.11:235757441:A:C p.(Leu2300Val) NC_000001.11:235757441:A:C Identity +NM_001318756.1:c.178_184del NP_001305685.1:p.Arg60fs NC_000016.10:84165848:GAGCAGGGAGC:GAGC p.(Arg60GlyfsTer13) NC_000016.10:84165848:GAGCAGGGAGC:GAGC p.(Arg60GlyfsTer13) NC_000016.10:84165852:AGGGAGC: Analogous +NM_000257.4:c.4099G>A NP_000248.2:p.Glu1367Lys NC_000014.9:23418279:C:T p.(Glu1367Lys) NC_000014.9:23418279:C:T p.(Glu1367Lys) NC_000014.9:23418279:C:T Identity +NM_001277115.2:c.10274C>A NP_001264044.1:p.Thr3425Lys NC_000007.14:21807990:C:A p.(Thr3425Lys) NC_000007.14:21807990:C:A p.(Thr3425Lys) NC_000007.14:21807990:C:A Identity +NM_001350334.2:c.481G>T NP_001337263.1:p.Asp161Tyr NC_000021.9:32601957:C:A p.(Asp161Tyr) NC_000021.9:32601957:C:A p.(Asp161Tyr) NC_000021.9:32601957:C:A Identity +NM_001369.3:c.5056G>A NP_001360.1:p.Gly1686Arg NC_000005.10:13850709:C:T p.(Gly1686Arg) NC_000005.10:13850709:C:T p.(Gly1686Arg) NC_000005.10:13850709:C:T Identity +NM_001172810.3:c.598A>C NP_001166281.1:p.Ile200Leu NC_000017.11:74289723:A:C p.(Ile200Leu) NC_000017.11:74289723:A:C p.(Ile200Leu) NC_000017.11:74289723:A:C Identity +NM_017802.4:c.787C>T NP_060272.3:p.Arg263Trp NC_000007.14:740824:C:T p.(Arg263Trp) NC_000007.14:740824:C:T p.(Arg263Trp) NC_000007.14:740824:C:T Identity +NM_000179.3:c.2299A>G NP_000170.1:p.Thr767Ala NC_000002.12:47800281:A:G p.(Thr767Ala) NC_000002.12:47800281:A:G p.(Thr767Ala) NC_000002.12:47800281:A:G Identity +NM_000179.3:c.1972G>A NP_000170.1:p.Val658Met NC_000002.12:47799954:G:A p.(Val658Met) NC_000002.12:47799954:G:A p.(Val658Met) NC_000002.12:47799954:G:A Identity +NM_001206927.2:c.7793del NP_001193856.1:p.Leu2598fs NC_000006.12:38875761:TT:T p.(Leu2598TrpfsTer61) NC_000006.12:38875761:TT:T p.(Leu2598TrpfsTer61) NC_000006.12:38875762:T: Analogous +NM_181426.2:c.991A>T NP_852091.1:p.Asn331Tyr NC_000003.12:180652205:T:A p.(Asn331Tyr) NC_000003.12:180652205:T:A p.(Asn331Tyr) NC_000003.12:180652205:T:A Identity +NM_001369.3:c.13689G>C NP_001360.1:p.Leu4563Phe NC_000005.10:13700673:C:G p.(Leu4563Phe) NC_000005.10:13700673:C:G p.(Leu4563Phe) NC_000005.10:13700673:C:G Identity +NM_001277115.2:c.2440G>A NP_001264044.1:p.Glu814Lys NC_000007.14:21591349:G:A p.(Glu814Lys) NC_000007.14:21591349:G:A p.(Glu814Lys) NC_000007.14:21591349:G:A Identity +NM_000109.4:c.2740T>G NP_000100.3:p.Phe914Val NC_000023.11:32484957:A:C p.(Phe914Val) NC_000023.11:32484957:A:C p.(Phe914Val) NC_000023.11:32484957:A:C Identity +NM_000251.3:c.2393A>C NP_000242.1:p.Asn798Thr NC_000002.12:47478453:A:C p.(Asn798Thr) NC_000002.12:47478453:A:C p.(Asn798Thr) NC_000002.12:47478453:A:C Identity +NM_000179.3:c.3388G>T NP_000170.1:p.Val1130Leu NC_000002.12:47803634:G:T p.(Val1130Leu) NC_000002.12:47803634:G:T p.(Val1130Leu) NC_000002.12:47803634:G:T Identity +NM_000179.3:c.3068A>C NP_000170.1:p.Glu1023Ala NC_000002.12:47801050:A:C p.(Glu1023Ala) NC_000002.12:47801050:A:C p.(Glu1023Ala) NC_000002.12:47801050:A:C Identity +NM_001318360.2:c.1157C>T NP_001305289.1:p.Pro386Leu NC_000009.12:108906446:G:A p.(Pro386Leu) NC_000009.12:108906446:G:A p.(Pro386Leu) NC_000009.12:108906446:G:A Identity +NM_000360.4:c.13G>A NP_000351.2:p.Asp5Asn NC_000011.10:2171773:C:T p.(Asp5Asn) NC_000011.10:2171773:C:T p.(Asp5Asn) NC_000011.10:2171773:C:T Identity +NM_000109.4:c.6034G>C NP_000100.3:p.Ala2012Pro NC_000023.11:32310140:C:G p.(Ala2012Pro) NC_000023.11:32310140:C:G p.(Ala2012Pro) NC_000023.11:32310140:C:G Identity +NM_000109.4:c.3364_3365dup NP_000100.3:p.Leu1123fs NC_000023.11:32463481:TCT:TCTCT p.(Leu1123AsnfsTer23) NC_000023.11:32463481:TCT:TCTCT p.(Leu1123AsnfsTer23) ERR:SPDI Analogous +NM_000127.3:c.279C>G NP_000118.2:p.Tyr93Ter NC_000008.11:118110767:G:C p.(Tyr93Ter) NC_000008.11:118110767:G:C p.(Tyr93Ter) NC_000008.11:118110767:G:C Identity +NM_000135.4:c.2267G>C NP_000126.2:p.Arg756Pro NC_000016.10:89770214:C:G p.(Arg756Pro) NC_000016.10:89770214:C:G p.(Arg756Pro) NC_000016.10:89770214:C:G Identity +NM_001018113.3:c.2420A>C NP_001018123.1:p.Glu807Ala NC_000023.11:14843726:T:G p.(Glu807Ala) NC_000023.11:14843726:T:G p.(Glu807Ala) NC_000023.11:14843726:T:G Identity +NM_032444.4:c.668G>A NP_115820.2:p.Arg223His NC_000016.10:3606565:C:T p.(Arg223His) NC_000016.10:3606565:C:T p.(Arg223His) NC_000016.10:3606565:C:T Identity +NM_000507.4:c.779del NP_000498.2:p.Gly260fs NC_000009.12:94605502:CC:C p.(Gly260GlufsTer17) NC_000009.12:94605502:CC:C p.(Gly260GlufsTer17) NC_000009.12:94605502:C: Analogous +NM_000152.5:c.2223C>G NP_000143.2:p.Asp741Glu NC_000017.11:80117000:C:G p.(Asp741Glu) NC_000017.11:80117000:C:G p.(Asp741Glu) NC_000017.11:80117000:C:G Identity +NM_000028.3:c.1333A>G NP_000019.2:p.Met445Val NC_000001.11:99876506:A:G p.(Met445Val) NC_000001.11:99876506:A:G p.(Met445Val) NC_000001.11:99876506:A:G Identity +NM_000218.2:c.1257delG NP_000209.2:p.Lys422Serfs NC_000011.10:2588717:G: ERR:Data provider error: ValueError: Transcript NM_000218.2 not found ERR:Data provider error: ValueError: Transcript NM_000218.2 not found ERR:AlignmentMapper(tx_ac=NM_000218.2, alt_ac=NM_000218.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000218.2, alt_ac=NM_000218.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000218.2 not found +NM_000088.4:c.2539G>A NP_000079.2:p.Ala847Thr NC_000017.11:50190020:C:T p.(Ala847Thr) NC_000017.11:50190020:C:T p.(Ala847Thr) NC_000017.11:50190020:C:T Identity +NM_000138.5:c.2935G>T NP_000129.3:p.Ala979Ser NC_000015.10:48489997:C:A p.(Ala979Ser) NC_000015.10:48489997:C:A p.(Ala979Ser) NC_000015.10:48489997:C:A Identity +NM_000244.4:c.583G>A NP_000235.3:p.Gly195Arg NC_000011.10:64807976:C:T p.(Gly195Arg) NC_000011.10:64807976:C:T p.(Gly195Arg) NC_000011.10:64807976:C:T Identity +NM_000202.8:c.389C>T NP_000193.1:p.Thr130Ile NC_000023.11:149503340:G:A p.(Thr130Ile) NC_000023.11:149503340:G:A p.(Thr130Ile) NC_000023.11:149503340:G:A Identity +NM_005732.4:c.505G>A NP_005723.2:p.Gly169Arg NC_000005.10:132579455:G:A p.(Gly169Arg) NC_000005.10:132579455:G:A p.(Gly169Arg) NC_000005.10:132579455:G:A Identity +NM_001018113.3:c.587G>A NP_001018123.1:p.Cys196Tyr NC_000023.11:14864923:C:T p.(Cys196Tyr) NC_000023.11:14864923:C:T p.(Cys196Tyr) NC_000023.11:14864923:C:T Identity +NM_000028.3:c.3127G>T NP_000019.2:p.Gly1043Cys NC_000001.11:99892474:G:T p.(Gly1043Cys) NC_000001.11:99892474:G:T p.(Gly1043Cys) NC_000001.11:99892474:G:T Identity +NM_000086.2:c.748C>T NP_000077.1:p.Arg250Trp NC_000016.10:28484047:G:A p.(Arg250Trp) NC_000016.10:28484047:G:A p.(Arg250Trp) NC_000016.10:28484047:G:A Identity +NM_000553.6:c.2221C>T NP_000544.2:p.Arg741Ter NC_000008.11:31111746:C:T p.(Arg741Ter) NC_000008.11:31111746:C:T p.(Arg741Ter) NC_000008.11:31111746:C:T Identity +NM_000553.6:c.457A>G NP_000544.2:p.Ile153Val NC_000008.11:31065015:A:G p.(Ile153Val) NC_000008.11:31065015:A:G p.(Ile153Val) NC_000008.11:31065015:A:G Identity +LRG_1323t1:c.2470dup LRG_1323p1:p.Gln824fs NC_000002.12:47073815:C:CC ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_001347827.2:c.1364A>G NP_001334756.1:p.Lys455Arg NC_000004.12:54272519:A:G p.(Lys455Arg) NC_000004.12:54272519:A:G p.(Lys455Arg) NC_000004.12:54272519:A:G Identity +NM_001347828.2:c.2756C>A NP_001334757.1:p.Thr919Asn NC_000004.12:54288804:C:A p.(Thr919Asn) NC_000004.12:54288804:C:A p.(Thr919Asn) NC_000004.12:54288804:C:A Identity +NM_000222.3:c.1373A>T NP_000213.1:p.Asp458Val NC_000004.12:54725882:A:T p.(Asp458Val) NC_000004.12:54725882:A:T p.(Asp458Val) NC_000004.12:54725882:A:T Identity +NM_001039885.3:c.554C>T NP_001034974.1:p.Ala185Val NC_000019.10:46756003:C:T p.(Ala185Val) NC_000019.10:46756003:C:T p.(Ala185Val) NC_000019.10:46756003:C:T Identity +NM_004260.4:c.2069C>T NP_004251.4:p.Thr690Met NC_000008.11:144513701:G:A p.(Thr690Met) NC_000008.11:144513701:G:A p.(Thr690Met) NC_000008.11:144513701:G:A Identity +NM_000393.5:c.2855G>A NP_000384.2:p.Arg952His NC_000002.12:189051395:C:T p.(Arg952His) NC_000002.12:189051395:C:T p.(Arg952His) NC_000002.12:189051395:C:T Identity +NM_001378454.1:c.6506C>T NP_001365383.1:p.Ser2169Leu NC_000002.12:73453032:C:T p.(Ser2169Leu) NC_000002.12:73453032:C:T p.(Ser2169Leu) NC_000002.12:73453032:C:T Identity +NM_000238.4:c.973G>A NP_000229.1:p.Val325Met NC_000007.14:150957445:C:T p.(Val325Met) NC_000007.14:150957445:C:T p.(Val325Met) NC_000007.14:150957445:C:T Identity +NM_001148.6:c.5626G>A NP_001139.3:p.Glu1876Lys NC_000004.12:113354243:G:A p.(Glu1876Lys) NC_000004.12:113354243:G:A p.(Glu1876Lys) NC_000004.12:113354243:G:A Identity +NM_000089.4:c.1324G>A NP_000080.2:p.Gly442Arg NC_000007.14:94411127:G:A p.(Gly442Arg) NC_000007.14:94411127:G:A p.(Gly442Arg) NC_000007.14:94411127:G:A Identity +NM_001123066.4:c.1403T>C NP_001116538.2:p.Ile468Thr NC_000017.11:45991481:T:C p.(Ile468Thr) NC_000017.11:45991481:T:C p.(Ile468Thr) NC_000017.11:45991481:T:C Identity +NM_001308122.2:c.1297C>G NP_001295051.1:p.Leu433Val NC_000005.10:132390861:C:G p.(Leu433Val) NC_000005.10:132390861:C:G p.(Leu433Val) NC_000005.10:132390861:C:G Identity +NM_001308122.2:c.1082C>T NP_001295051.1:p.Thr361Ile NC_000005.10:132388978:C:T p.(Thr361Ile) NC_000005.10:132388978:C:T p.(Thr361Ile) NC_000005.10:132388978:C:T Identity +NM_000546.6:c.269C>T NP_000537.3:p.Ser90Phe NC_000017.11:7676099:G:A p.(Ser90Phe) NC_000017.11:7676099:G:A p.(Ser90Phe) NC_000017.11:7676099:G:A Identity +LRG_1323t1:c.280A>C LRG_1323p1:p.Lys94Gln NC_000002.12:46950457:A:C ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000222.3:c.2266A>G NP_000213.1:p.Ile756Val NC_000004.12:54731902:A:G p.(Ile756Val) NC_000004.12:54731902:A:G p.(Ile756Val) NC_000004.12:54731902:A:G Identity +NM_001918.5:c.260AAG[1] NP_001909.4:p.Glu88del NC_000001.11:100230900:CTTCTT:CTT p.(Glu88del) NC_000001.11:100230905:T:CTT ERR:Parse ERR:Parse Identity +NM_000138.5:c.4044T>G NP_000129.3:p.Cys1348Trp NC_000015.10:48474570:A:C p.(Cys1348Trp) NC_000015.10:48474570:A:C p.(Cys1348Trp) NC_000015.10:48474570:A:C Identity +NM_000244.4:c.1488del NP_000235.3:p.Glu496fs NC_000011.10:64804693:C: p.(Glu496AspfsTer68) NC_000011.10:64804693:C: p.(Glu496AspfsTer68) NC_000011.10:64804693:C: Analogous +NM_005732.4:c.5C>T NP_005723.2:p.Ser2Phe NC_000005.10:132557328:C:T p.(Ser2Phe) NC_000005.10:132557328:C:T p.(Ser2Phe) NC_000005.10:132557328:C:T Identity +NM_000465.4:c.1281_1284del NP_000456.2:p.Gly428fs NC_000002.12:214780589:TCCT: p.(Gly428ArgfsTer46) NC_000002.12:214780589:TCCT: p.(Gly428ArgfsTer46) NC_000002.12:214780589:TCCT: Analogous +NM_024675.4:c.2267G>A NP_078951.2:p.Cys756Tyr NC_000016.10:23629886:C:T p.(Cys756Tyr) NC_000016.10:23629886:C:T p.(Cys756Tyr) NC_000016.10:23629886:C:T Identity +NM_005732.4:c.3440_3441dup NP_005723.2:p.Arg1148fs NC_000005.10:132637162:TATA:TATATA p.(Arg1148TyrfsTer17) NC_000005.10:132637162:TATA:TATATA p.(Arg1148TyrfsTer17) ERR:SPDI Analogous +NM_000391.4:c.127C>G NP_000382.3:p.Pro43Ala NC_000011.10:6618877:G:C p.(Pro43Ala) NC_000011.10:6618877:G:C p.(Pro43Ala) NC_000011.10:6618877:G:C Identity +NM_000246.4:c.592G>A NP_000237.2:p.Gly198Ser NC_000016.10:10902147:G:A p.(Gly198Ser) NC_000016.10:10902147:G:A p.(Gly198Ser) NC_000016.10:10902147:G:A Identity +NM_001079802.2:c.1129A>G NP_001073270.1:p.Met377Val NC_000009.12:105620017:A:G p.(Met377Val) NC_000009.12:105620017:A:G p.(Met377Val) NC_000009.12:105620017:A:G Identity +NM_004260.4:c.3190C>T NP_004251.4:p.Arg1064Cys NC_000008.11:144512189:G:A p.(Arg1064Cys) NC_000008.11:144512189:G:A p.(Arg1064Cys) NC_000008.11:144512189:G:A Identity +NM_032043.3:c.1594dup NP_114432.2:p.Met532fs NC_000017.11:61784303:T:TT p.(Met532AsnfsTer4) NC_000017.11:61784303:T:TT p.(Met532AsnfsTer4) ERR:SPDI Analogous +NM_032043.3:c.706G>C NP_114432.2:p.Asp236His NC_000017.11:61808678:C:G p.(Asp236His) NC_000017.11:61808678:C:G p.(Asp236His) NC_000017.11:61808678:C:G Identity +NM_139318.5:c.2236T>C NP_647479.2:p.Ser746Pro NC_000014.9:62708238:A:G p.(Ser746Pro) NC_000014.9:62708238:A:G p.(Ser746Pro) NC_000014.9:62708238:A:G Identity +NM_005732.4:c.2297A>G NP_005723.2:p.Asn766Ser NC_000005.10:132603388:A:G p.(Asn766Ser) NC_000005.10:132603388:A:G p.(Asn766Ser) NC_000005.10:132603388:A:G Identity +NM_000268.4:c.1445C>T NP_000259.1:p.Pro482Leu NC_000022.11:29674939:C:T p.(Pro482Leu) NC_000022.11:29674939:C:T p.(Pro482Leu) NC_000022.11:29674939:C:T Identity +NM_001366624.2:c.187del NP_001353553.1:p.Arg63fs NC_000013.11:76995074:CC:C p.(Arg63ValfsTer51) NC_000013.11:76995074:CC:C p.(Arg63ValfsTer51) NC_000013.11:76995075:C: Analogous +NM_024110.4:c.2483G>A NP_077015.2:p.Arg828Gln NC_000017.11:80205118:G:A p.(Arg828Gln) NC_000017.11:80205118:G:A p.(Arg828Gln) NC_000017.11:80205118:G:A Identity +NM_000553.6:c.275G>A NP_000544.2:p.Gly92Glu NC_000008.11:31064353:G:A p.(Gly92Glu) NC_000008.11:31064353:G:A p.(Gly92Glu) NC_000008.11:31064353:G:A Identity +NM_000553.6:c.2158C>A NP_000544.2:p.Leu720Met NC_000008.11:31111683:C:A p.(Leu720Met) NC_000008.11:31111683:C:A p.(Leu720Met) NC_000008.11:31111683:C:A Identity +NM_004260.4:c.2385C>A NP_004251.4:p.Phe795Leu NC_000008.11:144513295:G:T p.(Phe795Leu) NC_000008.11:144513295:G:T p.(Phe795Leu) NC_000008.11:144513295:G:T Identity +NM_000393.5:c.16G>T NP_000384.2:p.Ala6Ser NC_000002.12:189179588:C:A p.(Ala6Ser) NC_000002.12:189179588:C:A p.(Ala6Ser) NC_000002.12:189179588:C:A Identity +NM_000093.5:c.1462C>T NP_000084.3:p.Pro488Ser NC_000009.12:134738775:C:T p.(Pro488Ser) NC_000009.12:134738775:C:T p.(Pro488Ser) NC_000009.12:134738775:C:T Identity +NM_000093.5:c.4212G>C NP_000084.3:p.Gln1404His NC_000009.12:134817812:G:C p.(Gln1404His) NC_000009.12:134817812:G:C p.(Gln1404His) NC_000009.12:134817812:G:C Identity +NM_001024688.3:c.110G>C NP_001019859.1:p.Cys37Ser NC_000008.11:89980857:C:G p.(Cys37Ser) NC_000008.11:89980857:C:G p.(Cys37Ser) NC_000008.11:89980857:C:G Identity +NM_000546.6:c.293C>T NP_000537.3:p.Pro98Leu NC_000017.11:7676075:G:A p.(Pro98Leu) NC_000017.11:7676075:G:A p.(Pro98Leu) NC_000017.11:7676075:G:A Identity +NM_000512.5:c.502G>A NP_000503.1:p.Gly168Arg NC_000016.10:88837685:C:T p.(Gly168Arg) NC_000016.10:88837685:C:T p.(Gly168Arg) NC_000016.10:88837685:C:T Identity +NM_001347827.2:c.1414A>G NP_001334756.1:p.Ile472Val NC_000004.12:54273585:A:G p.(Ile472Val) NC_000004.12:54273585:A:G p.(Ile472Val) NC_000004.12:54273585:A:G Identity +NM_000321.3:c.301A>G NP_000312.2:p.Ile101Val NC_000013.11:48342634:A:G p.(Ile101Val) NC_000013.11:48342634:A:G p.(Ile101Val) NC_000013.11:48342634:A:G Identity +NM_000118.4:c.222delC NP_000109.1:p.Pro75Argfs NC_000009.12:127829822:GGG:GG p.(Pro75ArgfsTer6) NC_000009.12:127829822:GGG:GG p.(Pro75ArgfsTer6) NC_000009.12:127829824:G: Analogous +NM_000059.4:c.9640A>G NP_000050.3:p.Lys3214Glu NC_000013.11:32397035:A:G p.(Lys3214Glu) NC_000013.11:32397035:A:G p.(Lys3214Glu) NC_000013.11:32397035:A:G Identity +NM_000059.4:c.4900T>C NP_000050.3:p.Phe1634Leu NC_000013.11:32339254:T:C p.(Phe1634Leu) NC_000013.11:32339254:T:C p.(Phe1634Leu) NC_000013.11:32339254:T:C Identity +NM_001005407.2:c.912C>G NP_001005407.1:p.His304Gln NC_000016.10:1200363:C:G p.(His304Gln) NC_000016.10:1200363:C:G p.(His304Gln) NC_000016.10:1200363:C:G Identity +NM_001005407.2:c.4835A>C NP_001005407.1:p.Tyr1612Ser NC_000016.10:1213854:A:C p.(Tyr1612Ser) NC_000016.10:1213854:A:C p.(Tyr1612Ser) NC_000016.10:1213854:A:C Identity +NM_001005407.2:c.3629C>T NP_001005407.1:p.Pro1210Leu NC_000016.10:1209296:C:T p.(Pro1210Leu) NC_000016.10:1209296:C:T p.(Pro1210Leu) NC_000016.10:1209296:C:T Identity +NM_138694.4:c.10831A>C NP_619639.3:p.Ile3611Leu NC_000006.12:51659294:T:G p.(Ile3611Leu) NC_000006.12:51659294:T:G p.(Ile3611Leu) NC_000006.12:51659294:T:G Identity +NM_000168.6:c.847A>T NP_000159.3:p.Arg283Trp NC_000007.14:42040218:T:A p.(Arg283Trp) NC_000007.14:42040218:T:A p.(Arg283Trp) NC_000007.14:42040218:T:A Identity +NM_001079802.2:c.400G>A NP_001073270.1:p.Gly134Arg NC_000009.12:105604244:G:A p.(Gly134Arg) NC_000009.12:105604244:G:A p.(Gly134Arg) NC_000009.12:105604244:G:A Identity +NM_004260.4:c.134A>T NP_004251.4:p.Tyr45Phe NC_000008.11:144517492:T:A p.(Tyr45Phe) NC_000008.11:144517492:T:A p.(Tyr45Phe) NC_000008.11:144517492:T:A Identity +NM_004260.4:c.2561C>T NP_004251.4:p.Thr854Ile NC_000008.11:144513040:G:A p.(Thr854Ile) NC_000008.11:144513040:G:A p.(Thr854Ile) NC_000008.11:144513040:G:A Identity +NM_000059.4:c.9548T>C NP_000050.3:p.Ile3183Thr NC_000013.11:32396943:T:C p.(Ile3183Thr) NC_000013.11:32396943:T:C p.(Ile3183Thr) NC_000013.11:32396943:T:C Identity +NM_000168.6:c.1474G>A NP_000159.3:p.Asp492Asn NC_000007.14:42023490:C:T p.(Asp492Asn) NC_000007.14:42023490:C:T p.(Asp492Asn) NC_000007.14:42023490:C:T Identity +NM_004329.3:c.1261C>T NP_004320.2:p.His421Tyr NC_000010.11:86921613:C:T p.(His421Tyr) NC_000010.11:86921613:C:T p.(His421Tyr) NC_000010.11:86921613:C:T Identity +NM_024675.4:c.1988G>T NP_078951.2:p.Arg663Leu NC_000016.10:23630165:C:A p.(Arg663Leu) NC_000016.10:23630165:C:A p.(Arg663Leu) NC_000016.10:23630165:C:A Identity +NM_004260.4:c.2837G>A NP_004251.4:p.Arg946His NC_000008.11:144512689:C:T p.(Arg946His) NC_000008.11:144512689:C:T p.(Arg946His) NC_000008.11:144512689:C:T Identity +NM_001127698.2:c.677A>G NP_001121170.1:p.Lys226Arg NC_000005.10:148094363:A:G p.(Lys226Arg) NC_000005.10:148094363:A:G p.(Lys226Arg) NC_000005.10:148094363:A:G Identity +NM_000465.4:c.400A>C NP_000456.2:p.Asn134His NC_000002.12:214781473:T:G p.(Asn134His) NC_000002.12:214781473:T:G p.(Asn134His) NC_000002.12:214781473:T:G Identity +NM_001127207.2:c.2009A>G NP_001120679.1:p.Asn670Ser NC_000002.12:216451002:A:G p.(Asn670Ser) NC_000002.12:216451002:A:G p.(Asn670Ser) NC_000002.12:216451002:A:G Identity +NM_001127207.2:c.922A>G NP_001120679.1:p.Ser308Gly NC_000002.12:216420357:A:G p.(Ser308Gly) NC_000002.12:216420357:A:G p.(Ser308Gly) NC_000002.12:216420357:A:G Identity +NM_001103.4:c.686T>G NP_001094.1:p.Leu229Trp NC_000001.11:236731302:T:G p.(Leu229Trp) NC_000001.11:236731302:T:G p.(Leu229Trp) NC_000001.11:236731302:T:G Identity +NM_000206.3:c.522G>A NP_000197.1:p.Trp174Ter NC_000023.11:71110227:C:T p.(Trp174Ter) NC_000023.11:71110227:C:T p.(Trp174Ter) NC_000023.11:71110227:C:T Identity +NM_001081.4:c.5806_5807delinsAA NP_001072.2:p.Ser1936Asn NC_000010.11:16937710:GA:TT p.(Ser1936Asn) NC_000010.11:16937710:GA:TT p.(Ser1936Asn) NC_000010.11:16937710:GA:TT Identity +NM_025099.6:c.448G>A NP_079375.3:p.Asp150Asn NC_000017.11:8238229:C:T p.(Asp150Asn) NC_000017.11:8238229:C:T p.(Asp150Asn) NC_000017.11:8238229:C:T Identity +NM_000393.5:c.2228A>C NP_000384.2:p.Lys743Thr NC_000002.12:189058429:T:G p.(Lys743Thr) NC_000002.12:189058429:T:G p.(Lys743Thr) NC_000002.12:189058429:T:G Identity +NM_000093.5:c.4039C>T NP_000084.3:p.Pro1347Ser NC_000009.12:134815599:C:T p.(Pro1347Ser) NC_000009.12:134815599:C:T p.(Pro1347Ser) NC_000009.12:134815599:C:T Identity +NM_001165963.4:c.1435C>A NP_001159435.1:p.Leu479Ile NC_000002.12:166045269:G:T p.(Leu479Ile) NC_000002.12:166045269:G:T p.(Leu479Ile) NC_000002.12:166045269:G:T Identity +NM_001177984.3:c.1519G>C NP_001171455.1:p.Glu507Gln NC_000012.12:51706598:G:C p.(Glu507Gln) NC_000012.12:51706598:G:C p.(Glu507Gln) NC_000012.12:51706598:G:C Identity +LRG_402t1:c.2868T>G LRG_402p1:p.His956Gln NC_000001.11:237530471:T:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001005407.2:c.2842G>A NP_001005407.1:p.Gly948Arg NC_000016.10:1207052:G:A p.(Gly948Arg) NC_000016.10:1207052:G:A p.(Gly948Arg) NC_000016.10:1207052:G:A Identity +NM_001322258.2:c.2608C>T NP_001309187.1:p.Pro870Ser NC_000010.11:63208403:G:A p.(Pro870Ser) NC_000010.11:63208403:G:A p.(Pro870Ser) NC_000010.11:63208403:G:A Identity +NM_000355.4:c.809C>T NP_000346.2:p.Ala270Val NC_000022.11:30615655:C:T p.(Ala270Val) NC_000022.11:30615655:C:T p.(Ala270Val) NC_000022.11:30615655:C:T Identity +NM_004329.3:c.119A>G NP_004320.2:p.Asp40Gly NC_000010.11:86890112:A:G p.(Asp40Gly) NC_000010.11:86890112:A:G p.(Asp40Gly) NC_000010.11:86890112:A:G Identity +NM_004329.3:c.1450T>A NP_004320.2:p.Ser484Thr NC_000010.11:86923482:T:A p.(Ser484Thr) NC_000010.11:86923482:T:A p.(Ser484Thr) NC_000010.11:86923482:T:A Identity +NM_001005407.2:c.3256C>T NP_001005407.1:p.Pro1086Ser NC_000016.10:1208113:C:T p.(Pro1086Ser) NC_000016.10:1208113:C:T p.(Pro1086Ser) NC_000016.10:1208113:C:T Identity +NM_001001890.3:c.1109A>G NP_001001890.1:p.Gln370Arg NC_000021.9:34792387:T:C p.(Gln370Arg) NC_000021.9:34792387:T:C p.(Gln370Arg) NC_000021.9:34792387:T:C Identity +NM_001014797.3:c.16G>A NP_001014797.1:p.Gly6Ser NC_000010.11:77637626:C:T p.(Gly6Ser) NC_000010.11:77637626:C:T p.(Gly6Ser) NC_000010.11:77637626:C:T Identity +NM_001014797.3:c.3254G>A NP_001014797.1:p.Arg1085Gln NC_000010.11:76889495:C:T p.(Arg1085Gln) NC_000010.11:76889495:C:T p.(Arg1085Gln) NC_000010.11:76889495:C:T Identity +NM_005359.6:c.918T>G NP_005350.1:p.Asn306Lys NC_000018.10:51059878:T:G p.(Asn306Lys) NC_000018.10:51059878:T:G p.(Asn306Lys) NC_000018.10:51059878:T:G Identity +NM_001353229.2:c.782C>T NP_001340158.1:p.Ser261Leu NC_000017.11:17222551:G:A p.(Ser261Leu) NC_000017.11:17222551:G:A p.(Ser261Leu) NC_000017.11:17222551:G:A Identity +NM_024675.4:c.1070C>G NP_078951.2:p.Ser357Cys NC_000016.10:23635475:G:C p.(Ser357Cys) NC_000016.10:23635475:G:C p.(Ser357Cys) NC_000016.10:23635475:G:C Identity +NM_004104.5:c.2107C>T NP_004095.4:p.Arg703Trp NC_000017.11:82089165:G:A p.(Arg703Trp) NC_000017.11:82089165:G:A p.(Arg703Trp) NC_000017.11:82089165:G:A Identity +NM_001036.6:c.1945G>C NP_001027.3:p.Gly649Arg NC_000015.10:33603144:G:C p.(Gly649Arg) NC_000015.10:33603144:G:C p.(Gly649Arg) NC_000015.10:33603144:G:C Identity +NM_001036.6:c.14104G>A NP_001027.3:p.Asp4702Asn NC_000015.10:33857875:G:A p.(Asp4702Asn) NC_000015.10:33857875:G:A p.(Asp4702Asn) NC_000015.10:33857875:G:A Identity +NM_001036.6:c.8956G>A NP_001027.3:p.Val2986Ile NC_000015.10:33772058:G:A p.(Val2986Ile) NC_000015.10:33772058:G:A p.(Val2986Ile) NC_000015.10:33772058:G:A Identity +NM_000787.4:c.850G>A NP_000778.3:p.Asp284Asn NC_000009.12:133643517:G:A p.(Asp284Asn) NC_000009.12:133643517:G:A p.(Asp284Asn) NC_000009.12:133643517:G:A Identity +NM_001353229.2:c.1412_1428del NP_001340158.1:p.Gly471fs NC_000017.11:17215242:CTGGTCATCCTCACACCC:C p.(Gly471ValfsTer27) NC_000017.11:17215242:CTGGTCATCCTCACACCC:C p.(Gly471ValfsTer27) NC_000017.11:17215242:CTGGTCATCCTCACACC: Analogous +NM_032043.3:c.1177G>C NP_114432.2:p.Asp393His NC_000017.11:61799262:C:G p.(Asp393His) NC_000017.11:61799262:C:G p.(Asp393His) NC_000017.11:61799262:C:G Identity +NM_032043.3:c.2990C>T NP_114432.2:p.Thr997Ile NC_000017.11:61684055:G:A p.(Thr997Ile) NC_000017.11:61684055:G:A p.(Thr997Ile) NC_000017.11:61684055:G:A Identity +NM_001177984.3:c.1817G>A NP_001171455.1:p.Arg606Gln NC_000012.12:51721726:G:A p.(Arg606Gln) NC_000012.12:51721726:G:A p.(Arg606Gln) NC_000012.12:51721726:G:A Identity +NM_001165963.4:c.5104G>A NP_001159435.1:p.Asp1702Asn NC_000002.12:165992170:C:T p.(Asp1702Asn) NC_000002.12:165992170:C:T p.(Asp1702Asn) NC_000002.12:165992170:C:T Identity +NM_001005505.3:c.445C>T NP_001005505.1:p.Arg149Cys NC_000003.12:50394128:G:A p.(Arg149Cys) NC_000003.12:50394128:G:A p.(Arg149Cys) NC_000003.12:50394128:G:A Identity +NM_139318.5:c.2438G>A NP_647479.2:p.Arg813Gln NC_000014.9:62708036:C:T p.(Arg813Gln) NC_000014.9:62708036:C:T p.(Arg813Gln) NC_000014.9:62708036:C:T Identity +NM_000211.5:c.353C>A NP_000202.3:p.Thr118Asn NC_000021.9:44903510:G:T p.(Thr118Asn) NC_000021.9:44903510:G:T p.(Thr118Asn) NC_000021.9:44903510:G:T Identity +NM_001407571.1:c.1407G>C NP_001394500.1:p.Glu469Asp NC_000017.11:43093910:C:G p.(Glu469Asp) NC_000017.11:43093910:C:G p.(Glu469Asp) NC_000017.11:43093910:C:G Identity +NM_000059.4:c.5271T>A NP_000050.3:p.Tyr1757Ter NC_000013.11:32339625:T:A p.(Tyr1757Ter) NC_000013.11:32339625:T:A p.(Tyr1757Ter) NC_000013.11:32339625:T:A Identity +NM_000059.4:c.5890A>C NP_000050.3:p.Lys1964Gln NC_000013.11:32340244:A:C p.(Lys1964Gln) NC_000013.11:32340244:A:C p.(Lys1964Gln) NC_000013.11:32340244:A:C Identity +NM_001407928.1:c.478A>G NP_001394857.1:p.Thr160Ala NC_000017.11:43094788:T:C p.(Thr160Ala) NC_000017.11:43094788:T:C p.(Thr160Ala) NC_000017.11:43094788:T:C Identity +NM_001363813.1:c.113C>T NP_001350742.1:p.Pro38Leu NC_000017.11:65558507:G:A p.(Pro38Leu) NC_000017.11:65558507:G:A p.(Pro38Leu) NC_000017.11:65558507:G:A Identity +NM_001363813.1:c.1578G>C NP_001350742.1:p.Lys526Asn NC_000017.11:65537457:C:G p.(Lys526Asn) NC_000017.11:65537457:C:G p.(Lys526Asn) NC_000017.11:65537457:C:G Identity +NM_001024688.3:c.1631T>G NP_001019859.1:p.Leu544Arg NC_000008.11:89947860:A:C p.(Leu544Arg) NC_000008.11:89947860:A:C p.(Leu544Arg) NC_000008.11:89947860:A:C Identity +NM_001036.6:c.6646G>A NP_001027.3:p.Val2216Ile NC_000015.10:33722740:G:A p.(Val2216Ile) NC_000015.10:33722740:G:A p.(Val2216Ile) NC_000015.10:33722740:G:A Identity +NM_001318381.2:c.2894dup NP_001305310.1:p.Asn965fs NC_000009.12:100300652:AAAAAA:AAAAAAA p.(Asn965LysfsTer20) NC_000009.12:100300652:AAAAAA:AAAAAAA p.(Asn965LysfsTer20) ERR:SPDI Analogous +NM_000083.3:c.2258A>C NP_000074.3:p.Gln753Pro NC_000007.14:143346224:A:C p.(Gln753Pro) NC_000007.14:143346224:A:C p.(Gln753Pro) NC_000007.14:143346224:A:C Identity +NM_152383.5:c.2356G>T NP_689596.4:p.Val786Leu NC_000002.12:232334696:G:T p.(Val786Leu) NC_000002.12:232334696:G:T p.(Val786Leu) NC_000002.12:232334696:G:T Identity +NM_001407605.1:c.2816T>C NP_001394534.1:p.Val939Ala NC_000017.11:43092714:A:G p.(Val939Ala) NC_000017.11:43092714:A:G p.(Val939Ala) NC_000017.11:43092714:A:G Identity +NM_001407943.1:c.4034C>G NP_001394872.1:p.Thr1345Ser NC_000017.11:43090950:G:C p.(Thr1345Ser) NC_000017.11:43090950:G:C p.(Thr1345Ser) NC_000017.11:43090950:G:C Identity +NM_000096.4:c.1505_1506dup NP_000087.2:p.Pro503fs NC_000003.12:149198573:CACAC:CACACAC p.(Pro503CysfsTer24) NC_000003.12:149198573:CACAC:CACACAC p.(Pro503CysfsTer24) ERR:SPDI Analogous +NM_001065.4:c.269C>T NP_001056.1:p.Thr90Ile NC_000012.12:6333789:G:A p.(Thr90Ile) NC_000012.12:6333789:G:A p.(Thr90Ile) NC_000012.12:6333789:G:A Identity +NM_003680.4:c.1117G>A NP_003671.1:p.Gly373Arg NC_000001.11:32781070:C:T p.(Gly373Arg) NC_000001.11:32781070:C:T p.(Gly373Arg) NC_000001.11:32781070:C:T Identity +NM_033087.4:c.399C>G NP_149078.1:p.Ile133Met NC_000009.12:99218785:G:C p.(Ile133Met) NC_000009.12:99218785:G:C p.(Ile133Met) NC_000009.12:99218785:G:C Identity +NM_025243.4:c.637G>C NP_079519.1:p.Val213Leu NC_000002.12:227699077:C:G p.(Val213Leu) NC_000002.12:227699077:C:G p.(Val213Leu) NC_000002.12:227699077:C:G Identity +NM_001110556.2:c.1406C>T NP_001104026.1:p.Pro469Leu NC_000023.11:154366046:G:A p.(Pro469Leu) NC_000023.11:154366046:G:A p.(Pro469Leu) NC_000023.11:154366046:G:A Identity +NM_002049.4:c.242T>C NP_002040.1:p.Leu81Pro NC_000023.11:48791864:T:C p.(Leu81Pro) NC_000023.11:48791864:T:C p.(Leu81Pro) NC_000023.11:48791864:T:C Identity +NM_025014.2:c.592G>A NP_079290.1:p.Gly198Ser NC_000017.11:8312630:G:A p.(Gly198Ser) NC_000017.11:8312630:G:A p.(Gly198Ser) NC_000017.11:8312630:G:A Identity +NM_001193304.3:c.419G>T NP_001180233.1:p.Cys140Phe NC_000002.12:96254105:C:A p.(Cys140Phe) NC_000002.12:96254105:C:A p.(Cys140Phe) NC_000002.12:96254105:C:A Identity +NM_004501.3:c.780A>T NP_004492.2:p.Glu260Asp NC_000001.11:244862500:T:A p.(Glu260Asp) NC_000001.11:244862500:T:A p.(Glu260Asp) NC_000001.11:244862500:T:A Identity +NM_001293557.2:c.1199C>T NP_001280486.1:p.Pro400Leu NC_000016.10:50711190:C:T p.(Pro400Leu) NC_000016.10:50711190:C:T p.(Pro400Leu) NC_000016.10:50711190:C:T Identity +NM_000530.8:c.277G>C NP_000521.2:p.Gly93Arg NC_000001.11:161306878:C:G p.(Gly93Arg) NC_000001.11:161306878:C:G p.(Gly93Arg) NC_000001.11:161306878:C:G Identity +NM_020919.4:c.3863C>T NP_065970.2:p.Pro1288Leu NC_000002.12:201715812:G:A p.(Pro1288Leu) NC_000002.12:201715812:G:A p.(Pro1288Leu) NC_000002.12:201715812:G:A Identity +NM_001105243.2:c.1555C>T NP_001098713.1:p.Arg519Ter NC_000023.11:100407042:G:A p.(Arg519Ter) NC_000023.11:100407042:G:A p.(Arg519Ter) NC_000023.11:100407042:G:A Identity +NM_004104.5:c.6118G>A NP_004095.4:p.Ala2040Thr NC_000017.11:82082053:C:T p.(Ala2040Thr) NC_000017.11:82082053:C:T p.(Ala2040Thr) NC_000017.11:82082053:C:T Identity +NM_001036.6:c.12887C>G NP_001027.3:p.Pro4296Arg NC_000015.10:33838866:C:G p.(Pro4296Arg) NC_000015.10:33838866:C:G p.(Pro4296Arg) NC_000015.10:33838866:C:G Identity +NM_001282205.2:c.11C>T NP_001269134.1:p.Ala4Val NC_000009.12:34637686:G:A p.(Ala4Val) NC_000009.12:34637686:G:A p.(Ala4Val) NC_000009.12:34637686:G:A Identity +NM_152383.5:c.1756A>G NP_689596.4:p.Met586Val NC_000002.12:232329828:A:G p.(Met586Val) NC_000002.12:232329828:A:G p.(Met586Val) NC_000002.12:232329828:A:G Identity +NM_001103.4:c.1625T>C NP_001094.1:p.Met542Thr NC_000001.11:236749232:T:C p.(Met542Thr) NC_000001.11:236749232:T:C p.(Met542Thr) NC_000001.11:236749232:T:C Identity +NM_001103.4:c.9G>T NP_001094.1:p.Gln3His NC_000001.11:236686681:G:T p.(Gln3His) NC_000001.11:236686681:G:T p.(Gln3His) NC_000001.11:236686681:G:T Identity +NM_000059.4:c.4327T>C NP_000050.3:p.Phe1443Leu NC_000013.11:32338681:T:C p.(Phe1443Leu) NC_000013.11:32338681:T:C p.(Phe1443Leu) NC_000013.11:32338681:T:C Identity +NM_000077.5:c.214T>A NP_000068.1:p.Cys72Ser NC_000009.12:21971144:A:T p.(Cys72Ser) NC_000009.12:21971144:A:T p.(Cys72Ser) NC_000009.12:21971144:A:T Identity +LRG_402t1:c.3289A>G LRG_402p1:p.Lys1097Glu NC_000001.11:237566640:A:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000368.5:c.1607T>C NP_000359.1:p.Leu536Ser NC_000009.12:132905970:A:G p.(Leu536Ser) NC_000009.12:132905970:A:G p.(Leu536Ser) NC_000009.12:132905970:A:G Identity +NM_001171653.2:c.2048C>T NP_001165124.1:p.Ser683Phe NC_000002.12:144399066:G:A p.(Ser683Phe) NC_000002.12:144399066:G:A p.(Ser683Phe) NC_000002.12:144399066:G:A Identity +NM_001136029.4:c.2459C>T NP_001129501.1:p.Pro820Leu NC_000022.11:31838815:C:T p.(Pro820Leu) NC_000022.11:31838815:C:T p.(Pro820Leu) NC_000022.11:31838815:C:T Identity +NM_000059.4:c.8713T>C NP_000050.3:p.Tyr2905His NC_000013.11:32376749:T:C p.(Tyr2905His) NC_000013.11:32376749:T:C p.(Tyr2905His) NC_000013.11:32376749:T:C Identity +NM_000170.3:c.2446G>A NP_000161.2:p.Ala816Thr NC_000009.12:6553378:C:T p.(Ala816Thr) NC_000009.12:6553378:C:T p.(Ala816Thr) NC_000009.12:6553378:C:T Identity +NM_000388.4:c.2585T>C NP_000379.3:p.Phe862Ser NC_000003.12:122284538:T:C p.(Phe862Ser) NC_000003.12:122284538:T:C p.(Phe862Ser) NC_000003.12:122284538:T:C Identity +NM_001001890.3:c.925T>A NP_001001890.1:p.Phe309Ile NC_000021.9:34792571:A:T p.(Phe309Ile) NC_000021.9:34792571:A:T p.(Phe309Ile) NC_000021.9:34792571:A:T Identity +NM_001136472.2:c.226G>T NP_001129944.1:p.Val76Leu NC_000016.10:11553683:C:A p.(Val76Leu) NC_000016.10:11553683:C:A p.(Val76Leu) NC_000016.10:11553683:C:A Identity +NM_025216.3:c.831G>T NP_079492.2:p.Trp277Cys NC_000002.12:218892847:G:T p.(Trp277Cys) NC_000002.12:218892847:G:T p.(Trp277Cys) NC_000002.12:218892847:G:T Identity +NM_001330343.2:c.74G>A NP_001317272.1:p.Arg25His NC_000012.12:8606946:C:T p.(Arg25His) NC_000012.12:8606946:C:T p.(Arg25His) NC_000012.12:8606946:C:T Identity +NM_000388.4:c.1175G>T NP_000379.3:p.Arg392Leu NC_000003.12:122262209:G:T p.(Arg392Leu) NC_000003.12:122262209:G:T p.(Arg392Leu) NC_000003.12:122262209:G:T Identity +NM_001001890.3:c.899T>G NP_001001890.1:p.Leu300Arg NC_000021.9:34792597:A:C p.(Leu300Arg) NC_000021.9:34792597:A:C p.(Leu300Arg) NC_000021.9:34792597:A:C Identity +NM_000833.5:c.883G>A NP_000824.1:p.Gly295Ser NC_000016.10:9938082:C:T p.(Gly295Ser) NC_000016.10:9938082:C:T p.(Gly295Ser) NC_000016.10:9938082:C:T Identity +NM_001293306.2:c.5141A>G NP_001280235.2:p.Asn1714Ser NC_000003.12:38698075:T:C p.(Asn1714Ser) NC_000003.12:38698075:T:C p.(Asn1714Ser) NC_000003.12:38698075:T:C Identity +NM_000335.5:c.844C>G NP_000326.2:p.Arg282Gly NC_000003.12:38609823:G:C p.(Arg282Gly) NC_000003.12:38609823:G:C p.(Arg282Gly) NC_000003.12:38609823:G:C Identity +NM_001048171.2:c.1554T>G NP_001041636.2:p.Ser518Arg NC_000001.11:45329317:A:C p.(Ser518Arg) NC_000001.11:45329317:A:C p.(Ser518Arg) NC_000001.11:45329317:A:C Identity +NM_001256850.1:c.36659A>C NP_001243779.1:p.Glu12220Ala NC_000002.12:178635988:T:G p.(Glu12220Ala) NC_000002.12:178635988:T:G p.(Glu12220Ala) NC_000002.12:178635988:T:G Identity +NM_001081.4:c.10351G>A NP_001072.2:p.Asp3451Asn NC_000010.11:16835024:C:T p.(Asp3451Asn) NC_000010.11:16835024:C:T p.(Asp3451Asn) NC_000010.11:16835024:C:T Identity +LRG_402t1:c.2081G>A LRG_402p1:p.Arg694Gln NC_000001.11:237496629:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001040142.2:c.5603A>G NP_001035232.1:p.Glu1868Gly NC_000002.12:165389408:A:G p.(Glu1868Gly) NC_000002.12:165389408:A:G p.(Glu1868Gly) NC_000002.12:165389408:A:G Identity +NM_025243.4:c.781G>A NP_079519.1:p.Val261Ile NC_000002.12:227698933:C:T p.(Val261Ile) NC_000002.12:227698933:C:T p.(Val261Ile) NC_000002.12:227698933:C:T Identity +NM_001080124.2:c.847A>G NP_001073593.1:p.Ile283Val NC_000002.12:201284904:A:G p.(Ile283Val) NC_000002.12:201284904:A:G p.(Ile283Val) NC_000002.12:201284904:A:G Identity +NM_001363813.1:c.592G>C NP_001350742.1:p.Glu198Gln NC_000017.11:65558028:C:G p.(Glu198Gln) NC_000017.11:65558028:C:G p.(Glu198Gln) NC_000017.11:65558028:C:G Identity +NM_004501.3:c.1382C>T NP_004492.2:p.Pro461Leu NC_000001.11:244858065:G:A p.(Pro461Leu) NC_000001.11:244858065:G:A p.(Pro461Leu) NC_000001.11:244858065:G:A Identity +NM_001256850.1:c.53797A>G NP_001243779.1:p.Lys17933Glu NC_000002.12:178593579:T:C p.(Lys17933Glu) NC_000002.12:178593579:T:C p.(Lys17933Glu) NC_000002.12:178593579:T:C Identity +NM_001256850.1:c.77501C>A NP_001243779.1:p.Thr25834Lys NC_000002.12:178563707:G:T p.(Thr25834Lys) NC_000002.12:178563707:G:T p.(Thr25834Lys) NC_000002.12:178563707:G:T Identity +NM_001141973.3:c.3461T>C NP_001135445.1:p.Phe1154Ser NC_000001.11:16986287:A:G p.(Phe1154Ser) NC_000001.11:16986287:A:G p.(Phe1154Ser) NC_000001.11:16986287:A:G Identity +NM_001267623.2:c.67G>T NP_001254552.1:p.Val23Leu NC_000020.11:3213984:G:T p.(Val23Leu) NC_000020.11:3213984:G:T p.(Val23Leu) NC_000020.11:3213984:G:T Identity +NM_001363813.1:c.1732G>C NP_001350742.1:p.Ala578Pro NC_000017.11:65536533:C:G p.(Ala578Pro) NC_000017.11:65536533:C:G p.(Ala578Pro) NC_000017.11:65536533:C:G Identity +NM_001363813.1:c.1285G>A NP_001350742.1:p.Gly429Ser NC_000017.11:65537750:C:T p.(Gly429Ser) NC_000017.11:65537750:C:T p.(Gly429Ser) NC_000017.11:65537750:C:T Identity +NM_000368.5:c.460T>A NP_000359.1:p.Phe154Ile NC_000009.12:132923395:A:T p.(Phe154Ile) NC_000009.12:132923395:A:T p.(Phe154Ile) NC_000009.12:132923395:A:T Identity +NM_001256850.1:c.57925A>G NP_001243779.1:p.Thr19309Ala NC_000002.12:178588876:T:C p.(Thr19309Ala) NC_000002.12:178588876:T:C p.(Thr19309Ala) NC_000002.12:178588876:T:C Identity +NM_001256850.1:c.78304C>T NP_001243779.1:p.Arg26102Trp NC_000002.12:178562904:G:A p.(Arg26102Trp) NC_000002.12:178562904:G:A p.(Arg26102Trp) NC_000002.12:178562904:G:A Identity +NM_001256850.1:c.68069G>A NP_001243779.1:p.Arg22690His NC_000002.12:178573139:C:T p.(Arg22690His) NC_000002.12:178573139:C:T p.(Arg22690His) NC_000002.12:178573139:C:T Identity +NM_000052.7:c.4244A>G NP_000043.4:p.Tyr1415Cys NC_000023.11:78046310:A:G p.(Tyr1415Cys) NC_000023.11:78046310:A:G p.(Tyr1415Cys) NC_000023.11:78046310:A:G Identity +NM_001363850.1:c.1654G>A NP_001350779.1:p.Val552Ile NC_000016.10:89548103:G:A p.(Val552Ile) NC_000016.10:89548103:G:A p.(Val552Ile) NC_000016.10:89548103:G:A Identity +NM_001276504.2:c.173C>T NP_001263433.1:p.Ala58Val NC_000011.10:112088986:C:T p.(Ala58Val) NC_000011.10:112088986:C:T p.(Ala58Val) NC_000011.10:112088986:C:T Identity +NM_000255.4:c.394C>T NP_000246.2:p.Gln132Ter NC_000006.12:49458049:G:A p.(Gln132Ter) NC_000006.12:49458049:G:A p.(Gln132Ter) NC_000006.12:49458049:G:A Identity +NM_001943.5:c.1674A>C NP_001934.2:p.Gln558His NC_000018.10:31538772:A:C p.(Gln558His) NC_000018.10:31538772:A:C p.(Gln558His) NC_000018.10:31538772:A:C Identity +NM_001330347.2:c.734A>T NP_001317276.1:p.His245Leu NC_000011.10:94471684:T:A p.(His245Leu) NC_000011.10:94471684:T:A p.(His245Leu) NC_000011.10:94471684:T:A Identity +NM_001256850.1:c.84284G>C NP_001243779.1:p.Gly28095Ala NC_000002.12:178553797:C:G p.(Gly28095Ala) NC_000002.12:178553797:C:G p.(Gly28095Ala) NC_000002.12:178553797:C:G Identity +NM_004415.4:c.4900C>T NP_004406.2:p.Arg1634Trp NC_000006.12:7581089:C:T p.(Arg1634Trp) NC_000006.12:7581089:C:T p.(Arg1634Trp) NC_000006.12:7581089:C:T Identity +NM_001256850.1:c.86746C>T NP_001243779.1:p.Arg28916Ter NC_000002.12:178550168:G:A p.(Arg28916Ter) NC_000002.12:178550168:G:A p.(Arg28916Ter) NC_000002.12:178550168:G:A Identity +NM_001267550.2:c.37996C>A NP_001254479.2:p.Pro12666Thr NC_000002.12:178657539:G:T p.(Pro12666Thr) NC_000002.12:178657539:G:T p.(Pro12666Thr) NC_000002.12:178657539:G:T Identity +NM_000548.5:c.1964C>T NP_000539.2:p.Ser655Phe NC_000016.10:2071800:C:T p.(Ser655Phe) NC_000016.10:2071800:C:T p.(Ser655Phe) NC_000016.10:2071800:C:T Identity +NM_014141.6:c.1420A>G NP_054860.1:p.Ile474Val NC_000007.14:147300211:A:G p.(Ile474Val) NC_000007.14:147300211:A:G p.(Ile474Val) NC_000007.14:147300211:A:G Identity +NM_001267550.2:c.35717C>G NP_001254479.2:p.Pro11906Arg NC_000002.12:178667315:G:C p.(Pro11906Arg) NC_000002.12:178667315:G:C p.(Pro11906Arg) NC_000002.12:178667315:G:C Identity +NM_001276503.2:c.37G>A NP_001263432.1:p.Ala13Thr NC_000011.10:112086943:G:A p.(Ala13Thr) NC_000011.10:112086943:G:A p.(Ala13Thr) NC_000011.10:112086943:G:A Identity +NM_001276503.2:c.86C>T NP_001263432.1:p.Ala29Val NC_000011.10:112087889:C:T p.(Ala29Val) NC_000011.10:112087889:C:T p.(Ala29Val) NC_000011.10:112087889:C:T Identity +NM_001141973.3:c.1880C>T NP_001135445.1:p.Ser627Leu NC_000001.11:16992352:G:A p.(Ser627Leu) NC_000001.11:16992352:G:A p.(Ser627Leu) NC_000001.11:16992352:G:A Identity +NM_001164507.2:c.4060A>G NP_001157979.2:p.Lys1354Glu NC_000002.12:151672607:T:C p.(Lys1354Glu) NC_000002.12:151672607:T:C p.(Lys1354Glu) NC_000002.12:151672607:T:C Identity +NM_001100112.2:c.4376T>C NP_001093582.1:p.Leu1459Pro NC_000017.11:10525611:A:G p.(Leu1459Pro) NC_000017.11:10525611:A:G p.(Leu1459Pro) NC_000017.11:10525611:A:G Identity +NM_000255.4:c.566A>G NP_000246.2:p.Asn189Ser NC_000006.12:49457877:T:C p.(Asn189Ser) NC_000006.12:49457877:T:C p.(Asn189Ser) NC_000006.12:49457877:T:C Identity +NM_001256850.1:c.26038A>G NP_001243779.1:p.Thr8680Ala NC_000002.12:178713144:T:C p.(Thr8680Ala) NC_000002.12:178713144:T:C p.(Thr8680Ala) NC_000002.12:178713144:T:C Identity +NM_001100112.2:c.3571C>T NP_001093582.1:p.His1191Tyr NC_000017.11:10528862:G:A p.(His1191Tyr) NC_000017.11:10528862:G:A p.(His1191Tyr) NC_000017.11:10528862:G:A Identity +NM_001363823.2:c.156T>G NP_001350752.1:p.Tyr52Ter NC_000002.12:32063986:T:G p.(Tyr52Ter) NC_000002.12:32063986:T:G p.(Tyr52Ter) NC_000002.12:32063986:T:G Identity +NM_001363823.2:c.1570C>T NP_001350752.1:p.Gln524Ter NC_000002.12:32143371:C:T p.(Gln524Ter) NC_000002.12:32143371:C:T p.(Gln524Ter) NC_000002.12:32143371:C:T Identity +NM_001363823.2:c.508T>C NP_001350752.1:p.Cys170Arg NC_000002.12:32089529:T:C p.(Cys170Arg) NC_000002.12:32089529:T:C p.(Cys170Arg) NC_000002.12:32089529:T:C Identity +NM_000368.5:c.370A>G NP_000359.1:p.Thr124Ala NC_000009.12:132923485:T:C p.(Thr124Ala) NC_000009.12:132923485:T:C p.(Thr124Ala) NC_000009.12:132923485:T:C Identity +NM_024334.3:c.971del NP_077310.1:p.Asn324fs NC_000003.12:14139266:AA:A p.(Asn324ThrfsTer3) NC_000003.12:14139266:AA:A p.(Asn324ThrfsTer3) NC_000003.12:14139267:A: Analogous +NM_001330347.2:c.331T>G NP_001317276.1:p.Tyr111Asp NC_000011.10:94479744:A:C p.(Tyr111Asp) NC_000011.10:94479744:A:C p.(Tyr111Asp) NC_000011.10:94479744:A:C Identity +NM_001136029.4:c.4097A>G NP_001129501.1:p.His1366Arg NC_000022.11:31893671:A:G p.(His1366Arg) NC_000022.11:31893671:A:G p.(His1366Arg) NC_000022.11:31893671:A:G Identity +NM_025137.4:c.5966A>G NP_079413.3:p.Asn1989Ser NC_000015.10:44574941:T:C p.(Asn1989Ser) NC_000015.10:44574941:T:C p.(Asn1989Ser) NC_000015.10:44574941:T:C Identity +NM_002180.3:c.2912G>A NP_002171.2:p.Arg971Lys NC_000011.10:68939660:G:A p.(Arg971Lys) NC_000011.10:68939660:G:A p.(Arg971Lys) NC_000011.10:68939660:G:A Identity +NM_001042663.3:c.1646T>A NP_001036128.2:p.Val549Asp NC_000001.11:6470741:A:T p.(Val549Asp) NC_000001.11:6470741:A:T p.(Val549Asp) NC_000001.11:6470741:A:T Identity +NM_001256849.1:c.1917G>T NP_001243778.1:p.Arg639Ser NC_000019.10:50409145:G:T p.(Arg639Ser) NC_000019.10:50409145:G:T p.(Arg639Ser) NC_000019.10:50409145:G:T Identity +NM_000314.8:c.859T>C NP_000305.3:p.Ser287Pro NC_000010.11:87960950:T:C p.(Ser287Pro) NC_000010.11:87960950:T:C p.(Ser287Pro) NC_000010.11:87960950:T:C Identity +NM_000314.8:c.386del NP_000305.3:p.Gly129fs NC_000010.11:87933142:GGG:GG p.(Gly129AspfsTer5) NC_000010.11:87933142:GGG:GG p.(Gly129AspfsTer5) NC_000010.11:87933144:G: Analogous +NM_001352773.2:c.647G>A NP_001339702.1:p.Arg216Gln NC_000017.11:41769028:C:T p.(Arg216Gln) NC_000017.11:41769028:C:T p.(Arg216Gln) NC_000017.11:41769028:C:T Identity +NM_001256850.1:c.89600A>G NP_001243779.1:p.Asp29867Gly NC_000002.12:178546904:T:C p.(Asp29867Gly) NC_000002.12:178546904:T:C p.(Asp29867Gly) NC_000002.12:178546904:T:C Identity +NM_001256850.1:c.2360T>C NP_001243779.1:p.Ile787Thr NC_000002.12:178785857:A:G p.(Ile787Thr) NC_000002.12:178785857:A:G p.(Ile787Thr) NC_000002.12:178785857:A:G Identity +NM_001256850.1:c.14654T>C NP_001243779.1:p.Met4885Thr NC_000002.12:178733783:A:G p.(Met4885Thr) NC_000002.12:178733783:A:G p.(Met4885Thr) NC_000002.12:178733783:A:G Identity +NM_006267.5:c.526C>T NP_006258.3:p.Arg176Cys NC_000002.12:108735651:C:T p.(Arg176Cys) NC_000002.12:108735651:C:T p.(Arg176Cys) NC_000002.12:108735651:C:T Identity +NM_000814.6:c.995T>C NP_000805.1:p.Phe332Ser NC_000015.10:26561016:A:G p.(Phe332Ser) NC_000015.10:26561016:A:G p.(Phe332Ser) NC_000015.10:26561016:A:G Identity +NM_000806.5:c.1332C>G NP_000797.2:p.Asn444Lys NC_000005.10:161897382:C:G p.(Asn444Lys) NC_000005.10:161897382:C:G p.(Asn444Lys) NC_000005.10:161897382:C:G Identity +NM_001256850.1:c.97074G>C NP_001243779.1:p.Trp32358Cys NC_000002.12:178534617:C:G p.(Trp32358Cys) NC_000002.12:178534617:C:G p.(Trp32358Cys) NC_000002.12:178534617:C:G Identity +NM_001256850.1:c.43196G>A NP_001243779.1:p.Arg14399His NC_000002.12:178616769:C:T p.(Arg14399His) NC_000002.12:178616769:C:T p.(Arg14399His) NC_000002.12:178616769:C:T Identity +NM_001256850.1:c.80527G>T NP_001243779.1:p.Asp26843Tyr NC_000002.12:178560681:C:A p.(Asp26843Tyr) NC_000002.12:178560681:C:A p.(Asp26843Tyr) NC_000002.12:178560681:C:A Identity +NM_001382361.1:c.268C>T NP_001369290.1:p.Arg90Cys NC_000011.10:64210717:C:T p.(Arg90Cys) NC_000011.10:64210717:C:T p.(Arg90Cys) NC_000011.10:64210717:C:T Identity +LRG_785t2:c.2837A>G LRG_785p2:p.Asp946Gly NC_000019.10:50415764:A:G ERR:Data provider error: ValueError: Transcript LRG_785t2 not found ERR:Data provider error: ValueError: Transcript LRG_785t2 not found ERR:AlignmentMapper(tx_ac=LRG_785t2, alt_ac=LRG_785t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_785t2, alt_ac=LRG_785t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_785t2 not found +NM_000364.4:c.481C>T NP_000355.2:p.Arg161Cys NC_000001.11:201364305:G:A p.(Arg161Cys) NC_000001.11:201364305:G:A p.(Arg161Cys) NC_000001.11:201364305:G:A Identity +NM_001172566.2:c.106T>C NP_001166037.2:p.Phe36Leu NC_000003.12:38138805:T:C p.(Phe36Leu) NC_000003.12:38138805:T:C p.(Phe36Leu) NC_000003.12:38138805:T:C Identity +NM_001267550.2:c.36520C>A NP_001254479.2:p.Pro12174Thr NC_000002.12:178663638:G:T p.(Pro12174Thr) NC_000002.12:178663638:G:T p.(Pro12174Thr) NC_000002.12:178663638:G:T Identity +NM_001256850.1:c.3611A>C NP_001243779.1:p.Glu1204Ala NC_000002.12:178780117:T:G p.(Glu1204Ala) NC_000002.12:178780117:T:G p.(Glu1204Ala) NC_000002.12:178780117:T:G Identity +NM_001256850.1:c.76730T>C NP_001243779.1:p.Met25577Thr NC_000002.12:178564478:A:G p.(Met25577Thr) NC_000002.12:178564478:A:G p.(Met25577Thr) NC_000002.12:178564478:A:G Identity +NM_000038.6:c.2494C>G NP_000029.2:p.Pro832Ala NC_000005.10:112838087:C:G p.(Pro832Ala) NC_000005.10:112838087:C:G p.(Pro832Ala) NC_000005.10:112838087:C:G Identity +NM_001256850.1:c.18926G>A NP_001243779.1:p.Gly6309Glu NC_000002.12:178727700:C:T p.(Gly6309Glu) NC_000002.12:178727700:C:T p.(Gly6309Glu) NC_000002.12:178727700:C:T Identity +NM_003265.3:c.1489A>G NP_003256.1:p.Ser497Gly NC_000004.12:186083174:A:G p.(Ser497Gly) NC_000004.12:186083174:A:G p.(Ser497Gly) NC_000004.12:186083174:A:G Identity +NM_002471.4:c.379C>G NP_002462.2:p.Pro127Ala NC_000014.9:23405345:G:C p.(Pro127Ala) NC_000014.9:23405345:G:C p.(Pro127Ala) NC_000014.9:23405345:G:C Identity +NM_005477.3:c.3586C>T NP_005468.1:p.Arg1196Cys NC_000015.10:73322506:G:A p.(Arg1196Cys) NC_000015.10:73322506:G:A p.(Arg1196Cys) NC_000015.10:73322506:G:A Identity +NM_001172309.2:c.1052T>C NP_001165780.1:p.Met351Thr NC_000001.11:77933471:T:C p.(Met351Thr) NC_000001.11:77933471:T:C p.(Met351Thr) NC_000001.11:77933471:T:C Identity +NM_000294.3:c.253G>A NP_000285.1:p.Ala85Thr NC_000016.10:30751262:G:A p.(Ala85Thr) NC_000016.10:30751262:G:A p.(Ala85Thr) NC_000016.10:30751262:G:A Identity +NM_004304.5:c.24G>T NP_004295.2:p.Trp8Cys NC_000002.12:29920635:C:A p.(Trp8Cys) NC_000002.12:29920635:C:A p.(Trp8Cys) NC_000002.12:29920635:C:A Identity +NM_001972.4:c.452G>A NP_001963.1:p.Cys151Tyr NC_000019.10:855648:G:A p.(Cys151Tyr) NC_000019.10:855648:G:A p.(Cys151Tyr) NC_000019.10:855648:G:A Identity +NM_000548.5:c.5330C>G NP_000539.2:p.Pro1777Arg NC_000016.10:2088515:C:G p.(Pro1777Arg) NC_000016.10:2088515:C:G p.(Pro1777Arg) NC_000016.10:2088515:C:G Identity +NM_000548.5:c.1993C>G NP_000539.2:p.Pro665Ala NC_000016.10:2071829:C:G p.(Pro665Ala) NC_000016.10:2071829:C:G p.(Pro665Ala) NC_000016.10:2071829:C:G Identity +NM_001558.4:c.697G>A NP_001549.2:p.Val233Met NC_000011.10:117995596:G:A p.(Val233Met) NC_000011.10:117995596:G:A p.(Val233Met) NC_000011.10:117995596:G:A Identity +NM_000548.5:c.2989A>G NP_000539.2:p.Ser997Gly NC_000016.10:2079053:A:G p.(Ser997Gly) NC_000016.10:2079053:A:G p.(Ser997Gly) NC_000016.10:2079053:A:G Identity +NM_000548.5:c.476A>T NP_000539.2:p.Glu159Val NC_000016.10:2054434:A:T p.(Glu159Val) NC_000016.10:2054434:A:T p.(Glu159Val) NC_000016.10:2054434:A:T Identity +NM_000346.4:c.654G>A NP_000337.1:p.Met218Ile NC_000017.11:72122940:G:A p.(Met218Ile) NC_000017.11:72122940:G:A p.(Met218Ile) NC_000017.11:72122940:G:A Identity +NM_001135040.3:c.1692C>A NP_001128512.1:p.His564Gln NC_000002.12:74368829:G:T p.(His564Gln) NC_000002.12:74368829:G:T p.(His564Gln) NC_000002.12:74368829:G:T Identity +NM_001193465.2:c.2135C>T NP_001180394.1:p.Pro712Leu NC_000017.11:46039769:G:A p.(Pro712Leu) NC_000017.11:46039769:G:A p.(Pro712Leu) NC_000017.11:46039769:G:A Identity +NM_015488.5:c.663C>G NP_056303.3:p.Ile221Met NC_000002.12:218342025:C:G p.(Ile221Met) NC_000002.12:218342025:C:G p.(Ile221Met) NC_000002.12:218342025:C:G Identity +LRG_1191t1:c.2774_2788delinsCCAGGGCA LRG_1191p1:p.Cys925fs NC_000020.11:10641587:AGGGGTGGACGAAGC:TGCCCTGG ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_033071.5:c.2705C>T NP_149062.2:p.Thr902Met NC_000006.12:152455928:G:A p.(Thr902Met) NC_000006.12:152455928:G:A p.(Thr902Met) NC_000006.12:152455928:G:A Identity +NM_033071.5:c.14732G>A NP_149062.2:p.Arg4911His NC_000006.12:152329739:C:T p.(Arg4911His) NC_000006.12:152329739:C:T p.(Arg4911His) NC_000006.12:152329739:C:T Identity +NM_004304.5:c.1246G>T NP_004295.2:p.Ala416Ser NC_000002.12:29383767:C:A p.(Ala416Ser) NC_000002.12:29383767:C:A p.(Ala416Ser) NC_000002.12:29383767:C:A Identity +NM_001353765.2:c.1544A>G NP_001340694.1:p.Asn515Ser NC_000002.12:29193338:T:C p.(Asn515Ser) NC_000002.12:29193338:T:C p.(Asn515Ser) NC_000002.12:29193338:T:C Identity +NM_001256213.2:c.1943G>A NP_001243142.1:p.Arg648Gln NC_000019.10:41977968:C:T p.(Arg648Gln) NC_000019.10:41977968:C:T p.(Arg648Gln) NC_000019.10:41977968:C:T Identity +NM_001378120.1:c.2321del NP_001365049.1:p.Pro774fs NC_000002.12:148470262:CC:C p.(Pro774GlnfsTer10) NC_000002.12:148470262:CC:C p.(Pro774GlnfsTer10) NC_000002.12:148470263:C: Analogous +NM_001256849.1:c.1031G>C NP_001243778.1:p.Trp344Ser NC_000019.10:50403112:G:C p.(Trp344Ser) NC_000019.10:50403112:G:C p.(Trp344Ser) NC_000019.10:50403112:G:C Identity +NM_001278727.2:c.557C>T NP_001265656.1:p.Ala186Val NC_000019.10:19198714:C:T p.(Ala186Val) NC_000019.10:19198714:C:T p.(Ala186Val) NC_000019.10:19198714:C:T Identity +NM_001130455.2:c.4753A>G NP_001123927.1:p.Ile1585Val NC_000002.12:71658988:A:G p.(Ile1585Val) NC_000002.12:71658988:A:G p.(Ile1585Val) NC_000002.12:71658988:A:G Identity +NM_001177428.1:c.974C>T NP_001170899.1:p.Ser325Leu NC_000012.12:109798650:G:A p.(Ser325Leu) NC_000012.12:109798650:G:A p.(Ser325Leu) NC_000012.12:109798650:G:A Identity +NM_000445.5:c.13301C>T NP_000436.2:p.Pro4434Leu NC_000008.11:143916600:G:A p.(Pro4434Leu) NC_000008.11:143916600:G:A p.(Pro4434Leu) NC_000008.11:143916600:G:A Identity +NM_000445.5:c.6464G>A NP_000436.2:p.Arg2155Gln NC_000008.11:143923545:C:T p.(Arg2155Gln) NC_000008.11:143923545:C:T p.(Arg2155Gln) NC_000008.11:143923545:C:T Identity +NM_000038.6:c.2842T>C NP_000029.2:p.Ser948Pro NC_000005.10:112838435:T:C p.(Ser948Pro) NC_000005.10:112838435:T:C p.(Ser948Pro) NC_000005.10:112838435:T:C Identity +NM_000038.6:c.4306A>G NP_000029.2:p.Ser1436Gly NC_000005.10:112839899:A:G p.(Ser1436Gly) NC_000005.10:112839899:A:G p.(Ser1436Gly) NC_000005.10:112839899:A:G Identity +NM_001184985.2:c.3679G>A NP_001171914.1:p.Ala1227Thr NC_000012.12:880786:G:A p.(Ala1227Thr) NC_000012.12:880786:G:A p.(Ala1227Thr) NC_000012.12:880786:G:A Identity +NM_001184985.2:c.4403G>T NP_001171914.1:p.Ser1468Ile NC_000012.12:883527:G:T p.(Ser1468Ile) NC_000012.12:883527:G:T p.(Ser1468Ile) NC_000012.12:883527:G:T Identity +NM_000038.6:c.524C>G NP_000029.2:p.Thr175Ser NC_000005.10:112775729:C:G p.(Thr175Ser) NC_000005.10:112775729:C:G p.(Thr175Ser) NC_000005.10:112775729:C:G Identity +NM_013416.4:c.1003G>C NP_038202.2:p.Gly335Arg NC_000022.11:36876027:G:C p.(Gly335Arg) NC_000022.11:36876027:G:C p.(Gly335Arg) NC_000022.11:36876027:G:C Identity +NM_001376.5:c.8200G>A NP_001367.2:p.Val2734Met NC_000014.9:102018472:G:A p.(Val2734Met) NC_000014.9:102018472:G:A p.(Val2734Met) NC_000014.9:102018472:G:A Identity +NM_004656.4:c.1202A>G NP_004647.1:p.Tyr401Cys NC_000003.12:52404500:T:C p.(Tyr401Cys) NC_000003.12:52404500:T:C p.(Tyr401Cys) NC_000003.12:52404500:T:C Identity +NM_004656.4:c.554G>A NP_004647.1:p.Gly185Glu NC_000003.12:52407199:C:T p.(Gly185Glu) NC_000003.12:52407199:C:T p.(Gly185Glu) NC_000003.12:52407199:C:T Identity +NM_001350626.2:c.639G>C NP_001337555.1:p.Lys213Asn NC_000007.14:2543753:C:G p.(Lys213Asn) NC_000007.14:2543753:C:G p.(Lys213Asn) NC_000007.14:2543753:C:G Identity +LRG_1212t1:c.547G>A LRG_1212p1:p.Gly183Ser NC_000001.11:154602094:C:T ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_001099922.3:c.2587G>T NP_001093392.1:p.Val863Phe NC_000023.11:111736770:G:T p.(Val863Phe) NC_000023.11:111736770:G:T p.(Val863Phe) NC_000023.11:111736770:G:T Identity +NM_032806.6:c.1660A>G NP_116195.2:p.Thr554Ala NC_000003.12:43079771:T:C p.(Thr554Ala) NC_000003.12:43079771:T:C p.(Thr554Ala) NC_000003.12:43079771:T:C Identity +NM_006231.4:c.4654_4655del NP_006222.2:p.Thr1552fs NC_000012.12:132642892:GTGTGT:GTGT p.(Thr1552LeufsTer8) NC_000012.12:132642892:GTGTGT:GTGT p.(Thr1552LeufsTer8) NC_000012.12:132642892:GT: Analogous +NM_001010867.4:c.335T>G NP_001010867.1:p.Leu112Trp NC_000001.11:228166150:T:G p.(Leu112Trp) NC_000001.11:228166150:T:G p.(Leu112Trp) NC_000001.11:228166150:T:G Identity +NM_001244189.2:c.1702G>A NP_001231118.1:p.Ala568Thr NC_000014.9:58457938:G:A p.(Ala568Thr) NC_000014.9:58457938:G:A p.(Ala568Thr) NC_000014.9:58457938:G:A Identity +NM_004370.6:c.4876T>G NP_004361.3:p.Ser1626Ala NC_000006.12:75142112:A:C p.(Ser1626Ala) NC_000006.12:75142112:A:C p.(Ser1626Ala) NC_000006.12:75142112:A:C Identity +NM_001849.4:c.641_645del NP_001840.3:p.Asn214fs NC_000021.9:46112503:ACGAC: p.(Asn214IlefsTer60) NC_000021.9:46112503:ACGAC: p.(Asn214IlefsTer60) NC_000021.9:46112503:ACGAC: Analogous +NM_001164617.2:c.1495A>G NP_001158089.1:p.Met499Val NC_000023.11:133596586:T:C p.(Met499Val) NC_000023.11:133596586:T:C p.(Met499Val) NC_000023.11:133596586:T:C Identity +NM_000378.6:c.200C>T NP_000369.4:p.Ser67Phe NC_000011.10:32435160:G:A p.(Ser67Phe) NC_000011.10:32435160:G:A p.(Ser67Phe) NC_000011.10:32435160:G:A Identity +NM_001257374.3:c.455AGA[1] NP_001244303.1:p.Lys153del NC_000001.11:156134955:AGAAGA:AGA p.(Lys153del) NC_000001.11:156134955:A:AGA ERR:Parse ERR:Parse Identity +NM_000742.4:c.1127G>A NP_000733.2:p.Arg376Gln NC_000008.11:27463315:C:T p.(Arg376Gln) NC_000008.11:27463315:C:T p.(Arg376Gln) NC_000008.11:27463315:C:T Identity +NM_001130823.3:c.2018A>G NP_001124295.1:p.Glu673Gly NC_000019.10:10154293:T:C p.(Glu673Gly) NC_000019.10:10154293:T:C p.(Glu673Gly) NC_000019.10:10154293:T:C Identity +NM_001376.5:c.8068G>A NP_001367.2:p.Gly2690Arg NC_000014.9:102017394:G:A p.(Gly2690Arg) NC_000014.9:102017394:G:A p.(Gly2690Arg) NC_000014.9:102017394:G:A Identity +NM_001031714.4:c.1771G>C NP_001026884.3:p.Asp591His NC_000014.9:104708470:G:C p.(Asp591His) NC_000014.9:104708470:G:C p.(Asp591His) NC_000014.9:104708470:G:C Identity +NM_002661.5:c.1934C>T NP_002652.2:p.Pro645Leu NC_000016.10:81910719:C:T p.(Pro645Leu) NC_000016.10:81910719:C:T p.(Pro645Leu) NC_000016.10:81910719:C:T Identity +NM_001077269.1:c.235G>A NP_001070737.1:p.Gly79Arg NC_000002.12:174575326:C:T p.(Gly79Arg) NC_000002.12:174575326:C:T p.(Gly79Arg) NC_000002.12:174575326:C:T Identity +NM_001271933.2:c.395C>G NP_001258862.1:p.Ala132Gly NC_000011.10:117361835:C:G p.(Ala132Gly) NC_000011.10:117361835:C:G p.(Ala132Gly) NC_000011.10:117361835:C:G Identity +NM_001006658.3:c.605A>C NP_001006659.1:p.Lys202Thr NC_000001.11:207468685:A:C p.(Lys202Thr) NC_000001.11:207468685:A:C p.(Lys202Thr) NC_000001.11:207468685:A:C Identity +NM_020822.3:c.240C>G NP_065873.2:p.Phe80Leu NC_000009.12:135714705:C:G p.(Phe80Leu) NC_000009.12:135714705:C:G p.(Phe80Leu) NC_000009.12:135714705:C:G Identity +NM_006231.4:c.2246G>A NP_006222.2:p.Arg749Gln NC_000012.12:132667575:C:T p.(Arg749Gln) NC_000012.12:132667575:C:T p.(Arg749Gln) NC_000012.12:132667575:C:T Identity +NM_000038.6:c.2845A>T NP_000029.2:p.Met949Leu NC_000005.10:112838438:A:T p.(Met949Leu) NC_000005.10:112838438:A:T p.(Met949Leu) NC_000005.10:112838438:A:T Identity +NM_015180.6:c.16510G>A NP_055995.4:p.Val5504Ile NC_000014.9:64165314:G:A p.(Val5504Ile) NC_000014.9:64165314:G:A p.(Val5504Ile) NC_000014.9:64165314:G:A Identity +NM_001007027.3:c.1285A>G NP_001007028.1:p.Ile429Val NC_000011.10:78104043:T:C p.(Ile429Val) NC_000011.10:78104043:T:C p.(Ile429Val) NC_000011.10:78104043:T:C Identity +NM_001127713.1:c.769A>G NP_001121185.1:p.Ile257Val NC_000014.9:50614417:A:G p.(Ile257Val) NC_000014.9:50614417:A:G p.(Ile257Val) NC_000014.9:50614417:A:G Identity +NM_006231.4:c.4331T>C NP_006222.2:p.Val1444Ala NC_000012.12:132643519:A:G p.(Val1444Ala) NC_000012.12:132643519:A:G p.(Val1444Ala) NC_000012.12:132643519:A:G Identity +LRG_789t1:c.4319A>G LRG_789p1:p.His1440Arg NC_000012.12:132643531:T:C ERR:Data provider error: ValueError: Transcript LRG_789t1 not found ERR:Data provider error: ValueError: Transcript LRG_789t1 not found ERR:AlignmentMapper(tx_ac=LRG_789t1, alt_ac=LRG_789t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_789t1, alt_ac=LRG_789t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_789t1 not found +NM_006231.4:c.5108G>C NP_006222.2:p.Cys1703Ser NC_000012.12:132642241:C:G p.(Cys1703Ser) NC_000012.12:132642241:C:G p.(Cys1703Ser) NC_000012.12:132642241:C:G Identity +NM_021942.6:c.743G>C NP_068761.4:p.Arg248Thr NC_000004.12:183677465:G:C p.(Arg248Thr) NC_000004.12:183677465:G:C p.(Arg248Thr) NC_000004.12:183677465:G:C Identity +NM_001349253.2:c.3840C>A NP_001336182.1:p.Ser1280Arg NC_000003.12:38867431:G:T p.(Ser1280Arg) NC_000003.12:38867431:G:T p.(Ser1280Arg) NC_000003.12:38867431:G:T Identity +NM_001349253.2:c.143C>G NP_001336182.1:p.Pro48Arg NC_000003.12:38950219:G:C p.(Pro48Arg) NC_000003.12:38950219:G:C p.(Pro48Arg) NC_000003.12:38950219:G:C Identity +NM_152309.3:c.1370A>G NP_689522.2:p.Asp457Gly NC_000010.11:96645477:T:C p.(Asp457Gly) NC_000010.11:96645477:T:C p.(Asp457Gly) NC_000010.11:96645477:T:C Identity +LRG_1317t1:c.478G>A LRG_1317p1:p.Ala160Thr NC_000002.12:32251385:C:T ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found +NM_001304418.3:c.1664T>A NP_001291347.1:p.Leu555Gln NC_000003.12:69109113:A:T p.(Leu555Gln) NC_000003.12:69109113:A:T p.(Leu555Gln) NC_000003.12:69109113:A:T Identity +NM_001304418.3:c.203A>G NP_001291347.1:p.His68Arg NC_000003.12:69122183:T:C p.(His68Arg) NC_000003.12:69122183:T:C p.(His68Arg) NC_000003.12:69122183:T:C Identity +NM_001346418.1:c.690T>G NP_001333347.1:p.Ile230Met NC_000006.12:158982628:A:C p.(Ile230Met) NC_000006.12:158982628:A:C p.(Ile230Met) NC_000006.12:158982628:A:C Identity +NM_005045.4:c.3706C>T NP_005036.2:p.Pro1236Ser NC_000007.14:103594325:G:A p.(Pro1236Ser) NC_000007.14:103594325:G:A p.(Pro1236Ser) NC_000007.14:103594325:G:A Identity +NM_005045.4:c.9220A>T NP_005036.2:p.Ser3074Cys NC_000007.14:103495871:T:A p.(Ser3074Cys) NC_000007.14:103495871:T:A p.(Ser3074Cys) NC_000007.14:103495871:T:A Identity +NM_005045.4:c.8146G>A NP_005036.2:p.Asp2716Asn NC_000007.14:103510978:C:T p.(Asp2716Asn) NC_000007.14:103510978:C:T p.(Asp2716Asn) NC_000007.14:103510978:C:T Identity +NM_001316772.1:c.976G>A NP_001303701.1:p.Ala326Thr NC_000007.14:30616001:G:A p.(Ala326Thr) NC_000007.14:30616001:G:A p.(Ala326Thr) NC_000007.14:30616001:G:A Identity +NM_005472.5:c.120C>G NP_005463.1:p.Asp40Glu NC_000011.10:74457443:G:C p.(Asp40Glu) NC_000011.10:74457443:G:C p.(Asp40Glu) NC_000011.10:74457443:G:C Identity +NM_001353765.2:c.1402G>A NP_001340694.1:p.Glu468Lys NC_000002.12:29193480:C:T p.(Glu468Lys) NC_000002.12:29193480:C:T p.(Glu468Lys) NC_000002.12:29193480:C:T Identity +NM_015180.6:c.1760G>T NP_055995.4:p.Cys587Phe NC_000014.9:63981096:G:T p.(Cys587Phe) NC_000014.9:63981096:G:T p.(Cys587Phe) NC_000014.9:63981096:G:T Identity +NM_001184985.2:c.5264C>G NP_001171914.1:p.Thr1755Ser NC_000012.12:885287:C:G p.(Thr1755Ser) NC_000012.12:885287:C:G p.(Thr1755Ser) NC_000012.12:885287:C:G Identity +NM_001130455.2:c.2279A>G NP_001123927.1:p.Lys760Arg NC_000002.12:71561864:A:G p.(Lys760Arg) NC_000002.12:71561864:A:G p.(Lys760Arg) NC_000002.12:71561864:A:G Identity +NM_001130455.2:c.2561G>C NP_001123927.1:p.Arg854Pro NC_000002.12:71567996:G:C p.(Arg854Pro) NC_000002.12:71567996:G:C p.(Arg854Pro) NC_000002.12:71567996:G:C Identity +NM_004863.4:c.70G>C NP_004854.1:p.Glu24Gln NC_000014.9:77616509:C:G p.(Glu24Gln) NC_000014.9:77616509:C:G p.(Glu24Gln) NC_000014.9:77616509:C:G Identity +NM_000445.5:c.10436A>G NP_000436.2:p.Gln3479Arg NC_000008.11:143919465:T:C p.(Gln3479Arg) NC_000008.11:143919465:T:C p.(Gln3479Arg) NC_000008.11:143919465:T:C Identity +NM_000687.4:c.367G>A NP_000678.1:p.Gly123Arg NC_000020.11:34292435:C:T p.(Gly123Arg) NC_000020.11:34292435:C:T p.(Gly123Arg) NC_000020.11:34292435:C:T Identity +NM_001321309.2:c.1957G>A NP_001308238.1:p.Glu653Lys NC_000003.12:123700982:C:T p.(Glu653Lys) NC_000003.12:123700982:C:T p.(Glu653Lys) NC_000003.12:123700982:C:T Identity +NM_001165928.4:c.268A>G NP_001159400.3:p.Ser90Gly NC_000003.12:49510801:A:G p.(Ser90Gly) NC_000003.12:49510801:A:G p.(Ser90Gly) NC_000003.12:49510801:A:G Identity +NM_005249.5:c.455G>C NP_005240.3:p.Gly152Ala NC_000014.9:28767733:G:C p.(Gly152Ala) NC_000014.9:28767733:G:C p.(Gly152Ala) NC_000014.9:28767733:G:C Identity +NM_001195573.1:c.2029G>A NP_001182502.1:p.Ala677Thr NC_000014.9:95113102:C:T p.(Ala677Thr) NC_000014.9:95113102:C:T p.(Ala677Thr) NC_000014.9:95113102:C:T Identity +NM_004281.4:c.1156T>G NP_004272.2:p.Ser386Ala NC_000010.11:119676709:T:G p.(Ser386Ala) NC_000010.11:119676709:T:G p.(Ser386Ala) NC_000010.11:119676709:T:G Identity +NM_001127487.2:c.3871C>G NP_001120959.1:p.Arg1291Gly NC_000007.14:128846069:C:G p.(Arg1291Gly) NC_000007.14:128846069:C:G p.(Arg1291Gly) NC_000007.14:128846069:C:G Identity +NM_001127487.2:c.1673G>A NP_001120959.1:p.Arg558His NC_000007.14:128840670:G:A p.(Arg558His) NC_000007.14:128840670:G:A p.(Arg558His) NC_000007.14:128840670:G:A Identity +NM_001127487.2:c.5165del NP_001120959.1:p.Gly1722fs NC_000007.14:128849539:GGGGG:GGGG p.(Gly1722ValfsTer28) NC_000007.14:128849539:GGGGG:GGGG p.(Gly1722ValfsTer28) NC_000007.14:128849543:G: Analogous +NM_001243776.2:c.421A>T NP_001230705.1:p.Met141Leu NC_000011.10:95813532:A:T p.(Met141Leu) NC_000011.10:95813532:A:T p.(Met141Leu) NC_000011.10:95813532:A:T Identity +NM_001294332.2:c.1669G>C NP_001281261.1:p.Asp557His NC_000005.10:254410:G:C p.(Asp557His) NC_000005.10:254410:G:C p.(Asp557His) NC_000005.10:254410:G:C Identity +NM_001145661.2:c.1243G>A NP_001139133.1:p.Glu415Lys NC_000003.12:128481218:C:T p.(Glu415Lys) NC_000003.12:128481218:C:T p.(Glu415Lys) NC_000003.12:128481218:C:T Identity +NM_004656.4:c.1464del NP_004647.1:p.Ser489fs NC_000003.12:52403680:GGGGG:GGGG p.(Ser489AlafsTer82) NC_000003.12:52403680:GGGGG:GGGG p.(Ser489AlafsTer82) NC_000003.12:52403680:G: Analogous +NM_020361.5:c.494T>C NP_065094.3:p.Ile165Thr NC_000008.11:67509556:A:G p.(Ile165Thr) NC_000008.11:67509556:A:G p.(Ile165Thr) NC_000008.11:67509556:A:G Identity +NM_001347721.2:c.1702G>C NP_001334650.1:p.Val568Leu NC_000021.9:37511967:G:C p.(Val568Leu) NC_000021.9:37511967:G:C p.(Val568Leu) NC_000021.9:37511967:G:C Identity +NM_001243776.2:c.760A>C NP_001230705.1:p.Lys254Gln NC_000011.10:95821957:A:C p.(Lys254Gln) NC_000011.10:95821957:A:C p.(Lys254Gln) NC_000011.10:95821957:A:C Identity +NM_002661.5:c.942G>A NP_002652.2:p.Met314Ile NC_000016.10:81891545:G:A p.(Met314Ile) NC_000016.10:81891545:G:A p.(Met314Ile) NC_000016.10:81891545:G:A Identity +NM_004656.4:c.831dup NP_004647.1:p.Glu278fs NC_000003.12:52405864:TT:TTT p.(Glu278ArgfsTer6) NC_000003.12:52405864:TT:TTT p.(Glu278ArgfsTer6) ERR:SPDI Analogous +NM_005257.6:c.1631C>T NP_005248.2:p.Pro544Leu NC_000018.10:22200665:C:T p.(Pro544Leu) NC_000018.10:22200665:C:T p.(Pro544Leu) NC_000018.10:22200665:C:T Identity +NM_005257.6:c.200C>G NP_005248.2:p.Thr67Arg NC_000018.10:22171343:C:G p.(Thr67Arg) NC_000018.10:22171343:C:G p.(Thr67Arg) NC_000018.10:22171343:C:G Identity +NM_001253815.2:c.824G>T NP_001240744.1:p.Arg275Leu NC_000008.11:144360315:G:T p.(Arg275Leu) NC_000008.11:144360315:G:T p.(Arg275Leu) NC_000008.11:144360315:G:T Identity +NM_145020.5:c.740C>T NP_659457.2:p.Ala247Val NC_000018.10:50251517:G:A p.(Ala247Val) NC_000018.10:50251517:G:A p.(Ala247Val) NC_000018.10:50251517:G:A Identity +NM_006231.4:c.5153G>A NP_006222.2:p.Ser1718Asn NC_000012.12:132642196:C:T p.(Ser1718Asn) NC_000012.12:132642196:C:T p.(Ser1718Asn) NC_000012.12:132642196:C:T Identity +NM_001099922.3:c.2316C>G NP_001093392.1:p.Ser772Arg NC_000023.11:111728252:C:G p.(Ser772Arg) NC_000023.11:111728252:C:G p.(Ser772Arg) NC_000023.11:111728252:C:G Identity +NM_006231.4:c.5392A>G NP_006222.2:p.Met1798Val NC_000012.12:132639284:T:C p.(Met1798Val) NC_000012.12:132639284:T:C p.(Met1798Val) NC_000012.12:132639284:T:C Identity +NM_006231.4:c.1784A>G NP_006222.2:p.Asn595Ser NC_000012.12:132672224:T:C p.(Asn595Ser) NC_000012.12:132672224:T:C p.(Asn595Ser) NC_000012.12:132672224:T:C Identity +NM_006231.4:c.6440C>T NP_006222.2:p.Pro2147Leu NC_000012.12:132626207:G:A p.(Pro2147Leu) NC_000012.12:132626207:G:A p.(Pro2147Leu) NC_000012.12:132626207:G:A Identity +NM_013334.4:c.374G>A NP_037466.3:p.Arg125Gln NC_000003.12:49722999:C:T p.(Arg125Gln) NC_000003.12:49722999:C:T p.(Arg125Gln) NC_000003.12:49722999:C:T Identity +NM_001142386.3:c.608C>G NP_001135858.1:p.Thr203Arg NC_000023.11:24518944:C:G p.(Thr203Arg) NC_000023.11:24518944:C:G p.(Thr203Arg) NC_000023.11:24518944:C:G Identity +NM_006231.4:c.6205A>G NP_006222.2:p.Lys2069Glu NC_000012.12:132632439:T:C p.(Lys2069Glu) NC_000012.12:132632439:T:C p.(Lys2069Glu) NC_000012.12:132632439:T:C Identity +NM_006231.4:c.1879G>A NP_006222.2:p.Val627Met NC_000012.12:132668854:C:T p.(Val627Met) NC_000012.12:132668854:C:T p.(Val627Met) NC_000012.12:132668854:C:T Identity +NM_001105206.3:c.1541G>A NP_001098676.2:p.Arg514Gln NC_000006.12:112172620:C:T p.(Arg514Gln) NC_000006.12:112172620:C:T p.(Arg514Gln) NC_000006.12:112172620:C:T Identity +NM_152393.4:c.1801G>A NP_689606.2:p.Ala601Thr NC_000003.12:42691927:G:A p.(Ala601Thr) NC_000003.12:42691927:G:A p.(Ala601Thr) NC_000003.12:42691927:G:A Identity +NM_001271.4:c.3409C>T NP_001262.3:p.Arg1137Ter NC_000015.10:92985668:C:T p.(Arg1137Ter) NC_000015.10:92985668:C:T p.(Arg1137Ter) NC_000015.10:92985668:C:T Identity +NM_001105206.3:c.2203A>G NP_001098676.2:p.Arg735Gly NC_000006.12:112148306:T:C p.(Arg735Gly) NC_000006.12:112148306:T:C p.(Arg735Gly) NC_000006.12:112148306:T:C Identity +NM_016204.4:c.89G>C NP_057288.1:p.Arg30Pro NC_000010.11:47322756:G:C p.(Arg30Pro) NC_000010.11:47322756:G:C p.(Arg30Pro) NC_000010.11:47322756:G:C Identity +LRG_1327t1:c.1036A>G LRG_1327p1:p.Ile346Val NC_000003.12:53185976:A:G ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_001301237.2:c.421G>A NP_001288166.1:p.Glu141Lys NC_000001.11:40997409:G:A p.(Glu141Lys) NC_000001.11:40997409:G:A p.(Glu141Lys) NC_000001.11:40997409:G:A Identity +NM_004990.4:c.2294C>T NP_004981.2:p.Ala765Val NC_000012.12:57515238:C:T p.(Ala765Val) NC_000012.12:57515238:C:T p.(Ala765Val) NC_000012.12:57515238:C:T Identity +NM_001203263.2:c.2071C>G NP_001190192.2:p.Pro691Ala NC_000003.12:9933539:C:G p.(Pro691Ala) NC_000003.12:9933539:C:G p.(Pro691Ala) NC_000003.12:9933539:C:G Identity +NM_173354.5:c.1069G>A NP_775490.2:p.Gly357Arg NC_000021.9:43419908:C:T p.(Gly357Arg) NC_000021.9:43419908:C:T p.(Gly357Arg) NC_000021.9:43419908:C:T Identity +NM_001166226.2:c.1196C>G NP_001159698.1:p.Ala399Gly NC_000005.10:123388587:G:C p.(Ala399Gly) NC_000005.10:123388587:G:C p.(Ala399Gly) NC_000005.10:123388587:G:C Identity +NM_001384880.1:c.866A>G NP_001371809.1:p.Tyr289Cys NC_000002.12:190995138:T:C p.(Tyr289Cys) NC_000002.12:190995138:T:C p.(Tyr289Cys) NC_000002.12:190995138:T:C Identity +NM_001378923.1:c.2653G>A NP_001365852.1:p.Val885Ile NC_000009.12:35807329:G:A p.(Val885Ile) NC_000009.12:35807329:G:A p.(Val885Ile) NC_000009.12:35807329:G:A Identity +NM_004369.4:c.9407G>A NP_004360.2:p.Ser3136Asn NC_000002.12:237325645:C:T p.(Ser3136Asn) NC_000002.12:237325645:C:T p.(Ser3136Asn) NC_000002.12:237325645:C:T Identity +NM_001370085.1:c.140T>C NP_001357014.1:p.Val47Ala NC_000020.11:765634:A:G p.(Val47Ala) NC_000020.11:765634:A:G p.(Val47Ala) NC_000020.11:765634:A:G Identity +NM_001112741.2:c.701G>A NP_001106212.1:p.Arg234His NC_000011.10:17771794:G:A p.(Arg234His) NC_000011.10:17771794:G:A p.(Arg234His) NC_000011.10:17771794:G:A Identity +NM_001317799.2:c.1043A>G NP_001304728.1:p.Lys348Arg NC_000004.12:122934636:A:G p.(Lys348Arg) NC_000004.12:122934636:A:G p.(Lys348Arg) NC_000004.12:122934636:A:G Identity +NM_001365951.3:c.1771G>A NP_001352880.1:p.Gly591Arg NC_000001.11:10295759:G:A p.(Gly591Arg) NC_000001.11:10295759:G:A p.(Gly591Arg) NC_000001.11:10295759:G:A Identity +NM_032737.4:c.1247G>T NP_116126.3:p.Arg416Leu NC_000019.10:2434060:C:A p.(Arg416Leu) NC_000019.10:2434060:C:A p.(Arg416Leu) NC_000019.10:2434060:C:A Identity +LRG_1227t1:c.2858C>T LRG_1227p1:p.Ser953Phe NC_000005.10:169983125:C:T ERR:Data provider error: ValueError: Transcript LRG_1227t1 not found ERR:Data provider error: ValueError: Transcript LRG_1227t1 not found ERR:AlignmentMapper(tx_ac=LRG_1227t1, alt_ac=LRG_1227t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1227t1, alt_ac=LRG_1227t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1227t1 not found +NM_004974.4:c.1154T>C NP_004965.1:p.Ile385Thr NC_000001.11:110603628:A:G p.(Ile385Thr) NC_000001.11:110603628:A:G p.(Ile385Thr) NC_000001.11:110603628:A:G Identity +NM_001195573.1:c.58G>A NP_001182502.1:p.Ala20Thr NC_000014.9:95133400:C:T p.(Ala20Thr) NC_000014.9:95133400:C:T p.(Ala20Thr) NC_000014.9:95133400:C:T Identity +NM_000323.2:c.2234A>C NP_000314.1:p.His745Pro NC_000010.11:43116680:A:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001316772.1:c.839T>A NP_001303701.1:p.Ile280Asn NC_000007.14:30612214:T:A p.(Ile280Asn) NC_000007.14:30612214:T:A p.(Ile280Asn) NC_000007.14:30612214:T:A Identity +NM_001282625.2:c.248_251dup NP_001269554.1:p.Glu84fs NC_000001.11:156115165:CCGA:CCGACCGA p.(Glu84AspfsTer11) NC_000001.11:156115165:CCGA:CCGACCGA p.(Glu84AspfsTer11) ERR:SPDI Analogous +NM_024577.4:c.3644G>A NP_078853.2:p.Arg1215His NC_000005.10:149006911:C:T p.(Arg1215His) NC_000005.10:149006911:C:T p.(Arg1215His) NC_000005.10:149006911:C:T Identity +NM_000323.2:c.2870C>T NP_000314.1:p.Pro957Leu NC_000010.11:43123738:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000426.4:c.8977A>G NP_000417.3:p.Ile2993Val NC_000006.12:129512481:A:G p.(Ile2993Val) NC_000006.12:129512481:A:G p.(Ile2993Val) NC_000006.12:129512481:A:G Identity +NM_001122633.3:c.2376G>C NP_001116105.2:p.Met792Ile NC_000002.12:210608543:G:C p.(Met792Ile) NC_000002.12:210608543:G:C p.(Met792Ile) NC_000002.12:210608543:G:C Identity +NM_000426.4:c.6044C>T NP_000417.3:p.Thr2015Ile NC_000006.12:129438720:C:T p.(Thr2015Ile) NC_000006.12:129438720:C:T p.(Thr2015Ile) NC_000006.12:129438720:C:T Identity +NM_005188.4:c.1552A>G NP_005179.2:p.Thr518Ala NC_000011.10:119285088:A:G p.(Thr518Ala) NC_000011.10:119285088:A:G p.(Thr518Ala) NC_000011.10:119285088:A:G Identity +NM_005188.4:c.2390G>C NP_005179.2:p.Ser797Thr NC_000011.10:119298495:G:C p.(Ser797Thr) NC_000011.10:119298495:G:C p.(Ser797Thr) NC_000011.10:119298495:G:C Identity +NM_001256267.2:c.3815C>T NP_001243196.1:p.Pro1272Leu NC_000010.11:68210306:C:T p.(Pro1272Leu) NC_000010.11:68210306:C:T p.(Pro1272Leu) NC_000010.11:68210306:C:T Identity +NM_000166.6:c.8G>A NP_000157.1:p.Trp3Ter NC_000023.11:71223714:G:A p.(Trp3Ter) NC_000023.11:71223714:G:A p.(Trp3Ter) NC_000023.11:71223714:G:A Identity +NM_000384.3:c.4024A>G NP_000375.3:p.Ile1342Val NC_000002.12:21013351:T:C p.(Ile1342Val) NC_000002.12:21013351:T:C p.(Ile1342Val) NC_000002.12:21013351:T:C Identity +LRG_1122t1:c.2636G>T LRG_1122p1:p.Arg879Leu NC_000009.12:136510756:C:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001370528.1:c.581G>A NP_001357457.1:p.Arg194His NC_000003.12:64157180:C:T p.(Arg194His) NC_000003.12:64157180:C:T p.(Arg194His) NC_000003.12:64157180:C:T Identity +NM_000156.6:c.462C>G NP_000147.1:p.Asn154Lys NC_000019.10:1399023:G:C p.(Asn154Lys) NC_000019.10:1399023:G:C p.(Asn154Lys) NC_000019.10:1399023:G:C Identity +NM_000540.3:c.8752C>G NP_000531.2:p.Arg2918Gly NC_000019.10:38506887:C:G p.(Arg2918Gly) NC_000019.10:38506887:C:G p.(Arg2918Gly) NC_000019.10:38506887:C:G Identity +NM_015512.5:c.3574G>A NP_056327.4:p.Glu1192Lys NC_000003.12:52354935:G:A p.(Glu1192Lys) NC_000003.12:52354935:G:A p.(Glu1192Lys) NC_000003.12:52354935:G:A Identity +NM_015512.5:c.479T>C NP_056327.4:p.Leu160Pro NC_000003.12:52326211:T:C p.(Leu160Pro) NC_000003.12:52326211:T:C p.(Leu160Pro) NC_000003.12:52326211:T:C Identity +NM_015512.5:c.562C>G NP_056327.4:p.Arg188Gly NC_000003.12:52326294:C:G p.(Arg188Gly) NC_000003.12:52326294:C:G p.(Arg188Gly) NC_000003.12:52326294:C:G Identity +NM_001024858.4:c.1331_1338del NP_001020029.1:p.Leu444fs NC_000014.9:64796559:GGCCACGAGGC:GGC p.(Leu444ProfsTer3) NC_000014.9:64796559:GGCCACGAGGC:GGC p.(Leu444ProfsTer3) NC_000014.9:64796559:GGCCACGA: Analogous +NM_000064.4:c.1921G>A NP_000055.2:p.Asp641Asn NC_000019.10:6707853:C:T p.(Asp641Asn) NC_000019.10:6707853:C:T p.(Asp641Asn) NC_000019.10:6707853:C:T Identity +NM_001256896.2:c.131C>T NP_001243825.1:p.Ser44Phe NC_000004.12:3493046:C:T p.(Ser44Phe) NC_000004.12:3493046:C:T p.(Ser44Phe) NC_000004.12:3493046:C:T Identity +NM_000540.3:c.12727G>A NP_000531.2:p.Glu4243Lys NC_000019.10:38565060:G:A p.(Glu4243Lys) NC_000019.10:38565060:G:A p.(Glu4243Lys) NC_000019.10:38565060:G:A Identity +NM_000540.3:c.9152G>A NP_000531.2:p.Arg3051His NC_000019.10:38511589:G:A p.(Arg3051His) NC_000019.10:38511589:G:A p.(Arg3051His) NC_000019.10:38511589:G:A Identity +NM_001160302.2:c.3476G>C NP_001153774.1:p.Ser1159Thr NC_000021.9:32641959:C:G p.(Ser1159Thr) NC_000021.9:32641959:C:G p.(Ser1159Thr) NC_000021.9:32641959:C:G Identity +NM_024753.5:c.268_269insTAGA NP_079029.3:p.Glu90fs NC_000002.12:165945684::TCTA p.(Glu90ValfsTer16) NC_000002.12:165945683:T:TCTA p.(Glu90ValfsTer16) NC_000002.12:165945684:TC:TCTA Analogous +NM_000426.4:c.5938G>A NP_000417.3:p.Glu1980Lys NC_000006.12:129427823:G:A p.(Glu1980Lys) NC_000006.12:129427823:G:A p.(Glu1980Lys) NC_000006.12:129427823:G:A Identity +NM_001272073.2:c.1162G>A NP_001259002.1:p.Glu388Lys NC_000003.12:49100060:C:T p.(Glu388Lys) NC_000003.12:49100060:C:T p.(Glu388Lys) NC_000003.12:49100060:C:T Identity +NM_015512.5:c.7676del NP_056327.4:p.Val2559fs NC_000003.12:52381706:T: p.(Val2559AlafsTer7) NC_000003.12:52381706:T: p.(Val2559AlafsTer7) NC_000003.12:52381706:T: Analogous +NM_003126.4:c.1688G>A NP_003117.2:p.Arg563Gln NC_000001.11:158669552:C:T p.(Arg563Gln) NC_000001.11:158669552:C:T p.(Arg563Gln) NC_000001.11:158669552:C:T Identity +NM_000478.6:c.1098CTC[1] NP_000469.3:p.Ser368del NC_000001.11:21575831:CCTCCTC:CCTC p.(Ser368del) NC_000001.11:21575832:C:CTC ERR:Parse ERR:Parse Identity +NM_000038.6:c.2063C>A NP_000029.2:p.Ser688Ter NC_000005.10:112837656:C:A p.(Ser688Ter) NC_000005.10:112837656:C:A p.(Ser688Ter) NC_000005.10:112837656:C:A Identity +NM_000251.3:c.1812_1819dup NP_000242.1:p.Ser607fs NC_000002.12:47475076:TGTTGTCA:TGTTGTCATGTTGTCA p.(Ser607MetfsTer31) NC_000002.12:47475076:TGTTGTCA:TGTTGTCATGTTGTCA p.(Ser607MetfsTer31) ERR:SPDI Analogous +NM_000179.3:c.1619_1620del NP_000170.1:p.Leu540fs NC_000002.12:47799601:TT: p.(Leu540GlnfsTer22) NC_000002.12:47799601:TT: p.(Leu540GlnfsTer22) NC_000002.12:47799601:TT: Analogous +NM_000251.3:c.1144del NP_000242.1:p.Arg382fs NC_000002.12:47429808:C: p.(Arg382ValfsTer30) NC_000002.12:47429808:C: p.(Arg382ValfsTer30) NC_000002.12:47429808:C: Analogous +NM_001024858.4:c.6271C>A NP_001020029.1:p.Pro2091Thr NC_000014.9:64766799:G:T p.(Pro2091Thr) NC_000014.9:64766799:G:T p.(Pro2091Thr) NC_000014.9:64766799:G:T Identity +NM_001195263.2:c.1576C>T NP_001182192.1:p.Gln526Ter NC_000010.11:101015808:G:A p.(Gln526Ter) NC_000010.11:101015808:G:A p.(Gln526Ter) NC_000010.11:101015808:G:A Identity +NM_001160036.2:c.1448G>A NP_001153508.1:p.Arg483His NC_000008.11:23007626:G:A p.(Arg483His) NC_000008.11:23007626:G:A p.(Arg483His) NC_000008.11:23007626:G:A Identity +NM_000038.6:c.7946_7955del NP_000029.2:p.Pro2649fs NC_000005.10:112843538:CCTGCTGTTTC:C p.(Pro2649LeufsTer8) NC_000005.10:112843538:CCTGCTGTTTC:C p.(Pro2649LeufsTer8) NC_000005.10:112843539:CTGCTGTTTC: Analogous +NM_000136.3:c.368C>G NP_000127.2:p.Ser123Ter NC_000009.12:95172124:G:C p.(Ser123Ter) NC_000009.12:95172124:G:C p.(Ser123Ter) NC_000009.12:95172124:G:C Identity +NM_003620.4:c.1714C>T NP_003611.1:p.Arg572Ter NC_000017.11:60663447:C:T p.(Arg572Ter) NC_000017.11:60663447:C:T p.(Arg572Ter) NC_000017.11:60663447:C:T Identity +NM_006036.4:c.1A>C NP_006027.2:p.Met1Leu NC_000002.12:44359714:T:G p.(Met1Leu) NC_000002.12:44359714:T:G p.Met1? NC_000002.12:44359714:T:G Identity +NM_020699.4:c.1537C>T NP_065750.1:p.Gln513Ter NC_000001.11:153811841:G:A p.(Gln513Ter) NC_000001.11:153811841:G:A p.(Gln513Ter) NC_000001.11:153811841:G:A Identity +NM_000059.4:c.8477A>T NP_000050.3:p.Tyr2826Phe NC_000013.11:32370546:A:T p.(Tyr2826Phe) NC_000013.11:32370546:A:T p.(Tyr2826Phe) NC_000013.11:32370546:A:T Identity +NM_015335.5:c.2107C>T NP_056150.1:p.Gln703Ter NC_000012.12:116007541:G:A p.(Gln703Ter) NC_000012.12:116007541:G:A p.(Gln703Ter) NC_000012.12:116007541:G:A Identity +LRG_292t1:c.2409_2410del LRG_292p1:p.Ser803fs NC_000017.11:43093120:GA: ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000038.6:c.386_387insT NP_000029.2:p.Glu129fs NC_000005.10:112767354::T p.(Glu129AspfsTer10) NC_000005.10:112767353:A:T p.(Glu129AspfsTer10) NC_000005.10:112767354:AA:T Analogous +NM_015335.5:c.4387G>A NP_056150.1:p.Gly1463Arg NC_000012.12:115984323:C:T p.(Gly1463Arg) NC_000012.12:115984323:C:T p.(Gly1463Arg) NC_000012.12:115984323:C:T Identity +NM_000028.3:c.2670delT NP_000019.2:p.Pro891Leufs NC_000001.11:99884690:TT:T p.(Pro891LeufsTer9) NC_000001.11:99884690:TT:T p.(Pro891LeufsTer9) NC_000001.11:99884691:T: Analogous +NM_007055.4:c.3562G>A NP_008986.2:p.Val1188Met NC_000010.11:77982684:C:T p.(Val1188Met) NC_000010.11:77982684:C:T p.(Val1188Met) NC_000010.11:77982684:C:T Identity +NM_015512.5:c.11249A>G NP_056327.4:p.Asn3750Ser NC_000003.12:52395667:A:G p.(Asn3750Ser) NC_000003.12:52395667:A:G p.(Asn3750Ser) NC_000003.12:52395667:A:G Identity +LRG_402t1:c.9071A>G LRG_402p1:p.Asn3024Ser NC_000001.11:237698967:A:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_007254.4:c.788C>T NP_009185.2:p.Thr263Met NC_000019.10:49863716:G:A p.(Thr263Met) NC_000019.10:49863716:G:A p.(Thr263Met) NC_000019.10:49863716:G:A Identity +NM_001166136.2:c.3619G>A NP_001159608.1:p.Val1207Ile NC_000004.12:5562915:C:T p.(Val1207Ile) NC_000004.12:5562915:C:T p.(Val1207Ile) NC_000004.12:5562915:C:T Identity +NM_001105558.1:c.1477dup NP_001099028.1:p.Thr493fs NC_000007.14:141727383:AAAAA:AAAAAA p.(Thr493AsnfsTer39) NC_000007.14:141727383:AAAAA:AAAAAA p.(Thr493AsnfsTer39) ERR:SPDI Analogous +NM_001042681.2:c.14A>G NP_001036146.1:p.Lys5Arg NC_000001.11:8656283:T:C p.(Lys5Arg) NC_000001.11:8656283:T:C p.(Lys5Arg) NC_000001.11:8656283:T:C Identity +NM_032043.3:c.3292_3302delinsTTGTCTCTGGATCCAG NP_114432.2:p.Ala1098fs NC_000017.11:61683743:GGATCCAGGGC:CTGGATCCAGAGACAA p.(Ala1098LeufsTer12) NC_000017.11:61683743:GGATCCAGGGC:CTGGATCCAGAGACAA p.(Ala1098LeufsTer12) NC_000017.11:61683743:GGATCCAGGGC:CTGGATCCAGAGACAA Analogous +NM_001177984.3:c.4471A>G NP_001171455.1:p.Ile1491Val NC_000012.12:51794439:A:G p.(Ile1491Val) NC_000012.12:51794439:A:G p.(Ile1491Val) NC_000012.12:51794439:A:G Identity +NM_001278055.2:c.3259T>A NP_001264984.1:p.Trp1087Arg NC_000013.11:23340175:A:T p.(Trp1087Arg) NC_000013.11:23340175:A:T p.(Trp1087Arg) NC_000013.11:23340175:A:T Identity +NM_001291415.2:c.4060C>T NP_001278344.1:p.Gln1354Ter NC_000023.11:45107434:C:T p.(Gln1354Ter) NC_000023.11:45107434:C:T p.(Gln1354Ter) NC_000023.11:45107434:C:T Identity +NM_002016.2:c.7837A>T NP_002007.1:p.Arg2613Ter NC_000001.11:152307048:T:A p.(Arg2613Ter) NC_000001.11:152307048:T:A p.(Arg2613Ter) NC_000001.11:152307048:T:A Identity +NM_000251.3:c.2588dup NP_000242.1:p.Tyr863Ter NC_000002.12:47480824:A:AA p.(Tyr863Ter) NC_000002.12:47480824:A:AA p.(Tyr863Ter) ERR:SPDI Identity +NM_000138.5:c.3455C>T NP_000129.3:p.Ala1152Val NC_000015.10:48487319:G:A p.(Ala1152Val) NC_000015.10:48487319:G:A p.(Ala1152Val) NC_000015.10:48487319:G:A Identity +NM_001042537.2:c.286G>C NP_001036002.1:p.Ala96Pro NC_000023.11:135985787:G:C p.(Ala96Pro) NC_000023.11:135985787:G:C p.(Ala96Pro) NC_000023.11:135985787:G:C Identity +NM_001037343.2:c.781A>G NP_001032420.1:p.Arg261Gly NC_000023.11:18595383:A:G p.(Arg261Gly) NC_000023.11:18595383:A:G p.(Arg261Gly) NC_000023.11:18595383:A:G Identity +NM_001172435.2:c.2886_2887insTTCT NP_001165906.1:p.Pro963fs NC_000002.12:135168700::TTCT p.(Pro963PhefsTer15) NC_000002.12:135168699:G:TTCT p.(Pro963PhefsTer15) NC_000002.12:135168700:GC:TTCT Analogous +NM_001278196.2:c.1466A>C NP_001265125.1:p.His489Pro NC_000001.11:244055266:A:C p.(His489Pro) NC_000001.11:244055266:A:C p.(His489Pro) NC_000001.11:244055266:A:C Identity +NM_000138.5:c.4145A>T NP_000129.3:p.Asn1382Ile NC_000015.10:48474319:T:A p.(Asn1382Ile) NC_000015.10:48474319:T:A p.(Asn1382Ile) NC_000015.10:48474319:T:A Identity +NM_001110556.2:c.3925G>A NP_001104026.1:p.Val1309Ile NC_000023.11:154359785:C:T p.(Val1309Ile) NC_000023.11:154359785:C:T p.(Val1309Ile) NC_000023.11:154359785:C:T Identity +NM_000248.4:c.348G>A NP_000239.1:p.Met116Ile NC_000003.12:69941237:G:A p.(Met116Ile) NC_000003.12:69941237:G:A p.(Met116Ile) NC_000003.12:69941237:G:A Identity +NM_152393.4:c.1381A>G NP_689606.2:p.Met461Val NC_000003.12:42688676:A:G p.(Met461Val) NC_000003.12:42688676:A:G p.(Met461Val) NC_000003.12:42688676:A:G Identity +NM_004370.6:c.8459C>T NP_004361.3:p.Pro2820Leu NC_000006.12:75102008:G:A p.(Pro2820Leu) NC_000006.12:75102008:G:A p.(Pro2820Leu) NC_000006.12:75102008:G:A Identity +NM_000702.4:c.1432A>G NP_000693.1:p.Ile478Val NC_000001.11:160129370:A:G p.(Ile478Val) NC_000001.11:160129370:A:G p.(Ile478Val) NC_000001.11:160129370:A:G Identity +NM_014141.6:c.963C>A NP_054860.1:p.Phe321Leu NC_000007.14:147128715:C:A p.(Phe321Leu) NC_000007.14:147128715:C:A p.(Phe321Leu) NC_000007.14:147128715:C:A Identity +NM_000719.7:c.3357G>C NP_000710.5:p.Glu1119Asp NC_000012.12:2608510:G:C p.(Glu1119Asp) NC_000012.12:2608510:G:C p.(Glu1119Asp) NC_000012.12:2608510:G:C Identity +NM_001353229.2:c.233del NP_001340158.1:p.Lys78fs NC_000017.11:17227904:TTTTT:TTTT p.(Lys78SerfsTer52) NC_000017.11:17227904:TTTTT:TTTT p.(Lys78SerfsTer52) NC_000017.11:17227904:T: Analogous +NM_024675.4:c.770del NP_078951.2:p.Gly257fs NC_000016.10:23635775:CC:C p.(Gly257ValfsTer22) NC_000016.10:23635775:CC:C p.(Gly257ValfsTer22) NC_000016.10:23635775:C: Analogous +NM_001382.4:c.250A>C NP_001373.2:p.Lys84Gln NC_000011.10:119101049:T:G p.(Lys84Gln) NC_000011.10:119101049:T:G p.(Lys84Gln) NC_000011.10:119101049:T:G Identity +LRG_1425t1:c.1883T>G LRG_1425p1:p.Leu628Ter NC_000015.10:92956531:T:G ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found +NM_000834.5:c.2450A>G NP_000825.2:p.Asn817Ser NC_000012.12:13567172:T:C p.(Asn817Ser) NC_000012.12:13567172:T:C p.(Asn817Ser) NC_000012.12:13567172:T:C Identity +NM_000028.3:c.305G>T NP_000019.2:p.Ser102Ile NC_000001.11:99862267:G:T p.(Ser102Ile) NC_000001.11:99862267:G:T p.(Ser102Ile) NC_000001.11:99862267:G:T Identity +NM_000051.4:c.392C>G NP_000042.3:p.Ser131Ter NC_000011.10:108235729:C:G p.(Ser131Ter) NC_000011.10:108235729:C:G p.(Ser131Ter) NC_000011.10:108235729:C:G Identity +LRG_135t1:c.1348G>T LRG_135p1:p.Glu450Ter NC_000011.10:108250812:G:T ERR:Data provider error: ValueError: Transcript LRG_135t1 not found ERR:Data provider error: ValueError: Transcript LRG_135t1 not found ERR:AlignmentMapper(tx_ac=LRG_135t1, alt_ac=LRG_135t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_135t1, alt_ac=LRG_135t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_135t1 not found +NM_001142784.3:c.727C>A NP_001136256.1:p.Pro243Thr NC_000009.12:34658599:C:A p.(Pro243Thr) NC_000009.12:34658599:C:A p.(Pro243Thr) NC_000009.12:34658599:C:A Identity +NM_000384.3:c.3851G>A NP_000375.3:p.Arg1284Gln NC_000002.12:21013524:C:T p.(Arg1284Gln) NC_000002.12:21013524:C:T p.(Arg1284Gln) NC_000002.12:21013524:C:T Identity +NM_174936.4:c.494G>A NP_777596.2:p.Arg165Gln NC_000001.11:55046616:G:A p.(Arg165Gln) NC_000001.11:55046616:G:A p.(Arg165Gln) NC_000001.11:55046616:G:A Identity +NM_001407571.1:c.3120dup NP_001394500.1:p.Glu1041fs NC_000017.11:43092197:TT:TTT p.(Glu1041ArgfsTer3) NC_000017.11:43092197:TT:TTT p.(Glu1041ArgfsTer3) ERR:SPDI Analogous +NM_000109.4:c.1120C>T NP_000100.3:p.His374Tyr NC_000023.11:32644968:G:A p.(His374Tyr) NC_000023.11:32644968:G:A p.(His374Tyr) NC_000023.11:32644968:G:A Identity +NM_001317184.2:c.2093del NP_001304113.1:p.Gly698fs NC_000016.10:68828283:GG:G p.(Gly698GlufsTer11) NC_000016.10:68828283:GG:G p.(Gly698GlufsTer11) NC_000016.10:68828284:G: Analogous +NM_001318900.1:c.701A>G NP_001305829.1:p.Tyr234Cys NC_000010.11:87060784:T:C p.(Tyr234Cys) NC_000010.11:87060784:T:C p.(Tyr234Cys) NC_000010.11:87060784:T:C Identity +NM_002487.3:c.533G>A NP_002478.1:p.Arg178Lys NC_000015.10:23686684:C:T p.(Arg178Lys) NC_000015.10:23686684:C:T p.(Arg178Lys) NC_000015.10:23686684:C:T Identity +NM_001168298.2:c.707G>A NP_001161770.1:p.Arg236His NC_000002.12:218135507:G:A p.(Arg236His) NC_000002.12:218135507:G:A p.(Arg236His) NC_000002.12:218135507:G:A Identity +NM_001163213.2:c.1075C>T NP_001156685.1:p.Arg359Ter NC_000004.12:1803057:C:T p.(Arg359Ter) NC_000004.12:1803057:C:T p.(Arg359Ter) NC_000004.12:1803057:C:T Identity +NM_001282512.3:c.868G>A NP_001269441.1:p.Gly290Ser NC_000022.11:19895487:C:T p.(Gly290Ser) NC_000022.11:19895487:C:T p.(Gly290Ser) NC_000022.11:19895487:C:T Identity +NM_206933.4:c.8638_8641dup NP_996816.3:p.Ser2881fs NC_000001.11:215877797:AATAAATA:AATAAATAAATA p.(Ser2881LeufsTer9) NC_000001.11:215877797:AATAAATA:AATAAATAAATA p.(Ser2881LeufsTer9) ERR:SPDI Analogous +NM_001015880.2:c.1114G>T NP_001015880.1:p.Val372Phe NC_000010.11:87741261:G:T p.(Val372Phe) NC_000010.11:87741261:G:T p.(Val372Phe) NC_000010.11:87741261:G:T Identity +NM_001142571.2:c.6_13dup NP_001136043.1:p.Arg5fs NC_000017.11:35119600:TGAGCACG:TGAGCACGTGAGCACG p.(Arg5ThrfsTer15) NC_000017.11:35119600:TGAGCACG:TGAGCACGTGAGCACG p.(Arg5ThrfsTer15) ERR:SPDI Analogous +NM_004949.5:c.1167G>A NP_004940.1:p.Trp389Ter NC_000018.10:31082333:C:T p.(Trp389Ter) NC_000018.10:31082333:C:T p.(Trp389Ter) NC_000018.10:31082333:C:T Identity +NM_001261412.2:c.1150C>G NP_001248341.1:p.Leu384Val NC_000012.12:57530750:G:C p.(Leu384Val) NC_000012.12:57530750:G:C p.(Leu384Val) NC_000012.12:57530750:G:C Identity +NM_005619.5:c.1490A>C NP_005610.1:p.Gln497Pro NC_000019.10:45488477:T:G p.(Gln497Pro) NC_000019.10:45488477:T:G p.(Gln497Pro) NC_000019.10:45488477:T:G Identity +NM_021076.4:c.1575G>C NP_066554.2:p.Lys525Asn NC_000022.11:29489214:G:C p.(Lys525Asn) NC_000022.11:29489214:G:C p.(Lys525Asn) NC_000022.11:29489214:G:C Identity +NM_001365276.2:c.4562C>T NP_001352205.1:p.Ala1521Val NC_000006.12:32073765:G:A p.(Ala1521Val) NC_000006.12:32073765:G:A p.(Ala1521Val) NC_000006.12:32073765:G:A Identity +NM_000138.5:c.176G>T NP_000129.3:p.Cys59Phe NC_000015.10:48613080:C:A p.(Cys59Phe) NC_000015.10:48613080:C:A p.(Cys59Phe) NC_000015.10:48613080:C:A Identity +NM_000138.5:c.372G>A NP_000129.3:p.Met124Ile NC_000015.10:48600208:C:T p.(Met124Ile) NC_000015.10:48600208:C:T p.(Met124Ile) NC_000015.10:48600208:C:T Identity +NM_001110556.2:c.4292A>G NP_001104026.1:p.His1431Arg NC_000023.11:154359256:T:C p.(His1431Arg) NC_000023.11:154359256:T:C p.(His1431Arg) NC_000023.11:154359256:T:C Identity +NM_001316690.1:c.862C>T NP_001303619.1:p.Gln288Ter NC_000008.11:60742293:C:T p.(Gln288Ter) NC_000008.11:60742293:C:T p.(Gln288Ter) NC_000008.11:60742293:C:T Identity +NM_000393.5:c.3854C>T NP_000384.2:p.Pro1285Leu NC_000002.12:189039342:G:A p.(Pro1285Leu) NC_000002.12:189039342:G:A p.(Pro1285Leu) NC_000002.12:189039342:G:A Identity +NM_001130847.4:c.556A>G NP_001124319.1:p.Asn186Asp NC_000023.11:130147541:T:C p.(Asn186Asp) NC_000023.11:130147541:T:C p.(Asn186Asp) NC_000023.11:130147541:T:C Identity +NM_000138.5:c.3993del NP_000129.3:p.His1331fs NC_000015.10:48474621:G: p.(His1331GlnfsTer82) NC_000015.10:48474621:G: p.(His1331GlnfsTer82) NC_000015.10:48474621:G: Analogous +NM_000138.5:c.5503T>C NP_000129.3:p.Cys1835Arg NC_000015.10:48452603:A:G p.(Cys1835Arg) NC_000015.10:48452603:A:G p.(Cys1835Arg) NC_000015.10:48452603:A:G Identity +NM_000138.5:c.6388G>T NP_000129.3:p.Glu2130Ter NC_000015.10:48437068:C:A p.(Glu2130Ter) NC_000015.10:48437068:C:A p.(Glu2130Ter) NC_000015.10:48437068:C:A Identity +NM_000138.5:c.6770_6771dup NP_000129.3:p.Cys2258fs NC_000015.10:48430770:GT:GTGT p.(Cys2258ThrfsTer34) NC_000015.10:48430770:GT:GTGT p.(Cys2258ThrfsTer34) ERR:SPDI Analogous +NM_003482.4:c.3982C>T NP_003473.3:p.Arg1328Trp NC_000012.12:49049142:G:A p.(Arg1328Trp) NC_000012.12:49049142:G:A p.(Arg1328Trp) NC_000012.12:49049142:G:A Identity +NM_000248.4:c.632T>C NP_000239.1:p.Leu211Pro NC_000003.12:69951883:T:C p.(Leu211Pro) NC_000003.12:69951883:T:C p.(Leu211Pro) NC_000003.12:69951883:T:C Identity +NM_001330465.2:c.499C>T NP_001317394.1:p.Arg167Trp NC_000008.11:11555423:C:T p.(Arg167Trp) NC_000008.11:11555423:C:T p.(Arg167Trp) NC_000008.11:11555423:C:T Identity +NM_000323.2:c.884C>T NP_000314.1:p.Thr295Met NC_000010.11:43106391:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.1921G>T NP_000314.1:p.Ala641Ser NC_000010.11:43114520:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_003482.4:c.14055_14056del NP_003473.3:p.His4685fs NC_000012.12:49029419:TGTG:TG p.(His4685GlnfsTer4) NC_000012.12:49029419:TGTG:TG p.(His4685GlnfsTer4) NC_000012.12:49029419:TG: Analogous +NM_000525.4:c.1016T>G NP_000516.3:p.Val339Gly NC_000011.10:17387075:A:C p.(Val339Gly) NC_000011.10:17387075:A:C p.(Val339Gly) NC_000011.10:17387075:A:C Identity +NM_000438.6:c.293C>T NP_000429.2:p.Pro98Leu NC_000002.12:222297005:G:A p.(Pro98Leu) NC_000002.12:222297005:G:A p.(Pro98Leu) NC_000002.12:222297005:G:A Identity +NM_152594.3:c.7_20del NP_689807.1:p.Glu3fs NC_000015.10:38253190:CGAGGAGACGGCGAC:C p.(Glu3PhefsTer2) NC_000015.10:38253190:CGAGGAGACGGCGAC:C p.(Glu3PhefsTer2) NC_000015.10:38253191:GAGGAGACGGCGAC: Analogous +NM_001130066.2:c.1652T>C NP_001123538.1:p.Leu551Pro NC_000006.12:33438894:T:C p.(Leu551Pro) NC_000006.12:33438894:T:C p.(Leu551Pro) NC_000006.12:33438894:T:C Identity +NM_005562.3:c.1782_1783del NP_005553.2:p.Lys594fs NC_000001.11:183231027:GC: p.(Lys594AsnfsTer9) NC_000001.11:183231027:GC: p.(Lys594AsnfsTer9) NC_000001.11:183231027:GC: Analogous +NM_001297575.2:c.124G>A NP_001284504.1:p.Gly42Arg NC_000001.11:179575740:C:T p.(Gly42Arg) NC_000001.11:179575740:C:T p.(Gly42Arg) NC_000001.11:179575740:C:T Identity +NM_000022.4:c.396dup NP_000013.2:p.Val133fs NC_000020.11:44625650:T:TT p.(Val133SerfsTer38) NC_000020.11:44625650:T:TT p.(Val133SerfsTer38) ERR:SPDI Analogous +NM_000053.4:c.3208C>T NP_000044.2:p.Pro1070Ser NC_000013.11:51944143:G:A p.(Pro1070Ser) NC_000013.11:51944143:G:A p.(Pro1070Ser) NC_000013.11:51944143:G:A Identity +NM_002246.3:c.365T>C NP_002237.1:p.Leu122Pro NC_000002.12:26727747:T:C p.(Leu122Pro) NC_000002.12:26727747:T:C p.(Leu122Pro) NC_000002.12:26727747:T:C Identity +NM_001291411.2:c.3556C>T NP_001278340.2:p.Gln1186Ter NC_000021.9:33552786:C:T p.(Gln1186Ter) NC_000021.9:33552786:C:T p.(Gln1186Ter) NC_000021.9:33552786:C:T Identity +NM_000527.5:c.1432G>T NP_000518.1:p.Gly478Trp NC_000019.10:11113607:G:T p.(Gly478Trp) NC_000019.10:11113607:G:T p.(Gly478Trp) NC_000019.10:11113607:G:T Identity +LRG_292t1:c.3506dup LRG_292p1:p.Asp1169Glufs NC_000017.11:43092024:T:TT ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001407590.1:c.3758_3759insT NP_001394519.1:p.Lys1253fs NC_000017.11:43091769::A p.(Lys1253AsnfsTer13) NC_000017.11:43091768:C:A p.(Lys1253AsnfsTer13) NC_000017.11:43091769:CT:A Analogous +NM_001407571.1:c.2575_2576insTTATCACTGCAGGCTTT NP_001394500.1:p.Pro859fs NC_000017.11:43092742::AAAGCCTGCAGTGATAA p.(Pro859LeufsTer76) NC_000017.11:43092741:G:AAAGCCTGCAGTGATAA p.(Pro859LeufsTer76) NC_000017.11:43092742:GG:AAAGCCTGCAGTGATAA Analogous +NM_001378454.1:c.427C>T NP_001365383.1:p.Gln143Ter NC_000002.12:73408723:C:T p.(Gln143Ter) NC_000002.12:73408723:C:T p.(Gln143Ter) NC_000002.12:73408723:C:T Identity +NM_000091.5:c.443G>T NP_000082.2:p.Gly148Val NC_000002.12:227247558:G:T p.(Gly148Val) NC_000002.12:227247558:G:T p.(Gly148Val) NC_000002.12:227247558:G:T Identity +NM_000382.3:c.1212del NP_000373.1:p.Ser405fs NC_000017.11:19671723:CC:C p.(Ser405ValfsTer23) NC_000017.11:19671723:CC:C p.(Ser405ValfsTer23) NC_000017.11:19671724:C: Analogous +NM_000137.4:c.835del NP_000128.1:p.Gln279fs NC_000015.10:80173141:C: p.(Gln279ArgfsTer25) NC_000015.10:80173141:C: p.(Gln279ArgfsTer25) NC_000015.10:80173141:C: Analogous +NM_001378454.1:c.12362G>A NP_001365383.1:p.Arg4121Gln NC_000002.12:73603303:G:A p.(Arg4121Gln) NC_000002.12:73603303:G:A p.(Arg4121Gln) NC_000002.12:73603303:G:A Identity +NM_001184728.3:c.781A>G NP_001171657.1:p.Ile261Val NC_000020.11:45420608:A:G p.(Ile261Val) NC_000020.11:45420608:A:G p.(Ile261Val) NC_000020.11:45420608:A:G Identity +NM_001284367.2:c.432C>G NP_001271296.1:p.Cys144Trp NC_000010.11:100526434:G:C p.(Cys144Trp) NC_000010.11:100526434:G:C p.(Cys144Trp) NC_000010.11:100526434:G:C Identity +NM_000492.4:c.2986dup NP_000483.3:p.Gln996fs NC_000007.14:117606749:CC:CCC p.(Gln996ProfsTer51) NC_000007.14:117606749:CC:CCC p.(Gln996ProfsTer51) ERR:SPDI Analogous +NM_000295.5:c.654G>A NP_000286.3:p.Trp218Ter NC_000014.9:94381133:C:T p.(Trp218Ter) NC_000014.9:94381133:C:T p.(Trp218Ter) NC_000014.9:94381133:C:T Identity +NM_000363.5:c.556C>T NP_000354.4:p.Arg186Trp NC_000019.10:55151910:G:A p.(Arg186Trp) NC_000019.10:55151910:G:A p.(Arg186Trp) NC_000019.10:55151910:G:A Identity +NM_013382.7:c.1627C>A NP_037514.2:p.Leu543Met NC_000014.9:77283822:G:T p.(Leu543Met) NC_000014.9:77283822:G:T p.(Leu543Met) NC_000014.9:77283822:G:T Identity +NM_019066.5:c.2092G>A NP_061939.3:p.Gly698Arg NC_000015.10:23645650:C:T p.(Gly698Arg) NC_000015.10:23645650:C:T p.(Gly698Arg) NC_000015.10:23645650:C:T Identity +NM_020765.3:c.15547C>A NP_065816.2:p.Pro5183Thr NC_000001.11:19074836:G:T p.(Pro5183Thr) NC_000001.11:19074836:G:T p.(Pro5183Thr) NC_000001.11:19074836:G:T Identity +NM_001407957.1:c.4596_4597insAA NP_001394886.1:p.Val1533Lysfs NC_000017.11:43070978::TT p.(Val1533LysfsTer13) NC_000017.11:43070977:C:TT p.(Val1533LysfsTer13) NC_000017.11:43070978:CC:TT Analogous +LRG_340t1:c.1097G>T LRG_340p1:p.Gly366Val NC_000011.10:71435705:C:A ERR:Data provider error: ValueError: Transcript LRG_340t1 not found ERR:Data provider error: ValueError: Transcript LRG_340t1 not found ERR:AlignmentMapper(tx_ac=LRG_340t1, alt_ac=LRG_340t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_340t1, alt_ac=LRG_340t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_340t1 not found +NM_001172631.3:c.1568del NP_001166102.1:p.Ser523fs NC_000014.9:102434384:C: p.(Ser523PhefsTer12) NC_000014.9:102434384:C: p.(Ser523PhefsTer12) NC_000014.9:102434384:C: Analogous +NM_000751.3:c.1181A>C NP_000742.1:p.Lys394Thr NC_000002.12:232534063:A:C p.(Lys394Thr) NC_000002.12:232534063:A:C p.(Lys394Thr) NC_000002.12:232534063:A:C Identity +LRG_1206t1:c.538_547del LRG_1206p1:p.Pro180fs NC_000017.11:61467644:CCCCTTTGGCC:C ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found ERR:AlignmentMapper(tx_ac=LRG_1206t1, alt_ac=LRG_1206t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1206t1, alt_ac=LRG_1206t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1206t1 not found +NM_001378454.1:c.8711A>C NP_001365383.1:p.His2904Pro NC_000002.12:73490669:A:C p.(His2904Pro) NC_000002.12:73490669:A:C p.(His2904Pro) NC_000002.12:73490669:A:C Identity +NM_001407636.1:c.4606_4607insG NP_001394565.1:p.Gln1536Argfs NC_000017.11:43074393::C p.(Gln1536ArgfsTer36) NC_000017.11:43074392:T:C p.(Gln1536ArgfsTer36) NC_000017.11:43074393:TG:C Analogous +NM_000380.4:c.732dup NP_000371.1:p.Glu245Ter NC_000009.12:97675528:A:AA p.(Glu245Ter) NC_000009.12:97675528:A:AA p.(Glu245Ter) ERR:SPDI Identity +NM_000199.5:c.437T>C NP_000190.1:p.Leu146Pro NC_000017.11:80214683:A:G p.(Leu146Pro) NC_000017.11:80214683:A:G p.(Leu146Pro) NC_000017.11:80214683:A:G Identity +NM_002876.4:c.4C>G NP_002867.1:p.Arg2Gly NC_000017.11:58692646:C:G p.(Arg2Gly) NC_000017.11:58692646:C:G p.(Arg2Gly) NC_000017.11:58692646:C:G Identity +NM_015932.6:c.340_344dup NP_057016.1:p.Glu115fs NC_000013.11:28672411:GATTTGA:GATTTGATTTGA p.(Glu115AspfsTer20) NC_000013.11:28672411:GATTTGA:GATTTGATTTGA p.(Glu115AspfsTer20) ERR:SPDI Analogous +NM_000138.5:c.197A>G NP_000129.3:p.Tyr66Cys NC_000015.10:48613059:T:C p.(Tyr66Cys) NC_000015.10:48613059:T:C p.(Tyr66Cys) NC_000015.10:48613059:T:C Identity +NM_000138.5:c.3632_3634del NP_000129.3:p.Phe1211del NC_000015.10:48485451:AGAAG:AG p.(Phe1211del) NC_000015.10:48485451:AGAAG:AG p.(Phe1211del) NC_000015.10:48485451:AGA: Identity +NM_000138.5:c.3915C>A NP_000129.3:p.Cys1305Ter NC_000015.10:48481703:G:T p.(Cys1305Ter) NC_000015.10:48481703:G:T p.(Cys1305Ter) NC_000015.10:48481703:G:T Identity +NM_003823.4:c.168del NP_003814.1:p.Phe57fs NC_000020.11:63696933:CC:C p.(Phe57LeufsTer29) NC_000020.11:63696933:CC:C p.(Phe57LeufsTer29) NC_000020.11:63696934:C: Analogous +NM_000414.4:c.1574G>T NP_000405.1:p.Gly525Val NC_000005.10:119525916:G:T p.(Gly525Val) NC_000005.10:119525916:G:T p.(Gly525Val) NC_000005.10:119525916:G:T Identity +LRG_1260t1:c.53G>A LRG_1260p1:p.Arg18Gln NC_000001.11:63371029:G:A ERR:Data provider error: ValueError: Transcript LRG_1260t1 not found ERR:Data provider error: ValueError: Transcript LRG_1260t1 not found ERR:AlignmentMapper(tx_ac=LRG_1260t1, alt_ac=LRG_1260t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1260t1, alt_ac=LRG_1260t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1260t1 not found +NM_024312.5:c.2617dup NP_077288.2:p.Thr873fs NC_000012.12:101764299:T:TT p.(Thr873AsnfsTer2) NC_000012.12:101764299:T:TT p.(Thr873AsnfsTer2) ERR:SPDI Analogous +NM_001278055.2:c.6977_6978delinsTTT NP_001264984.1:p.Trp2326fs NC_000013.11:23336456:CC:AAA p.(Trp2326PhefsTer15) NC_000013.11:23336456:CC:AAA p.(Trp2326PhefsTer15) NC_000013.11:23336456:CC:AAA Analogous +NM_001320252.2:c.487G>A NP_001307181.1:p.Val163Met NC_000001.11:170552303:G:A p.(Val163Met) NC_000001.11:170552303:G:A p.(Val163Met) NC_000001.11:170552303:G:A Identity +NM_004055.5:c.949G>A NP_004046.2:p.Val317Met NC_000011.10:77116280:G:A p.(Val317Met) NC_000011.10:77116280:G:A p.(Val317Met) NC_000011.10:77116280:G:A Identity +NM_012064.4:c.418C>A NP_036196.1:p.Gln140Lys NC_000012.12:56453697:G:T p.(Gln140Lys) NC_000012.12:56453697:G:T p.(Gln140Lys) NC_000012.12:56453697:G:T Identity +NM_030632.3:c.4255_4258dup NP_085135.1:p.Met1420fs NC_000018.10:33744101:AAACA:AAACAAACA p.(Met1420LysfsTer9) NC_000018.10:33744101:AAACA:AAACAAACA p.(Met1420LysfsTer9) ERR:SPDI Analogous +NM_000540.3:c.364A>C NP_000531.2:p.Thr122Pro NC_000019.10:38443735:A:C p.(Thr122Pro) NC_000019.10:38443735:A:C p.(Thr122Pro) NC_000019.10:38443735:A:C Identity +NM_001039958.2:c.1073_1074insAGAGGACCAGAGGACC NP_001035047.1:p.Gly359fs NC_000015.10:89778208:GGACC:GGACCAGAGGACCAGAGGACC p.(Gly359GlufsTer13) NC_000015.10:89778212:C:AGAGGACCAGAGGACC p.(Gly359GlufsTer13) NC_000015.10:89778213:CG:AGAGGACCAGAGGACC Analogous +NM_001178007.2:c.1287_1290del NP_001171478.1:p.Lys430fs NC_000004.12:122743176:AGTAAG:AG p.(Lys430GlyfsTer3) NC_000004.12:122743176:AGTAAG:AG p.(Lys430GlyfsTer3) NC_000004.12:122743178:TAAG: Analogous +NM_000091.5:c.663_664del NP_000082.2:p.Arg221fs NC_000002.12:227253310:AGAG:AG p.(Arg221SerfsTer5) NC_000002.12:227253310:AGAG:AG p.(Arg221SerfsTer5) NC_000002.12:227253312:AG: Analogous +NM_000302.4:c.286A>T NP_000293.2:p.Ile96Phe NC_000001.11:11949889:A:T p.(Ile96Phe) NC_000001.11:11949889:A:T p.(Ile96Phe) NC_000001.11:11949889:A:T Identity +NM_001037343.2:c.2452_2459del NP_001032420.1:p.Pro818fs NC_000023.11:18625200:GACCAAAGGA:GA p.(Pro818ValfsTer89) NC_000023.11:18625200:GACCAAAGGA:GA p.(Pro818ValfsTer89) NC_000023.11:18625202:CCAAAGGA: Analogous +NM_000027.4:c.308_310del NP_000018.2:p.Gly103del NC_000004.12:177439659:CTCCT:CT p.(Gly103del) NC_000004.12:177439659:CTCCT:CT p.(Gly103del) NC_000004.12:177439659:CTC: Identity +NM_000091.5:c.345del NP_000082.2:p.Pro116fs NC_000002.12:227245971:GGG:GG p.(Pro116LeufsTer37) NC_000002.12:227245971:GGG:GG p.(Pro116LeufsTer37) NC_000002.12:227245973:G: Analogous +NM_000478.6:c.262G>A NP_000469.3:p.Glu88Lys NC_000001.11:21561176:G:A p.(Glu88Lys) NC_000001.11:21561176:G:A p.(Glu88Lys) NC_000001.11:21561176:G:A Identity +NM_001378454.1:c.3117G>T NP_001365383.1:p.Lys1039Asn NC_000002.12:73449643:G:T p.(Lys1039Asn) NC_000002.12:73449643:G:T p.(Lys1039Asn) NC_000002.12:73449643:G:T Identity +NM_000138.5:c.1463G>T NP_000129.3:p.Cys488Phe NC_000015.10:48515391:C:A p.(Cys488Phe) NC_000015.10:48515391:C:A p.(Cys488Phe) NC_000015.10:48515391:C:A Identity +NM_000489.6:c.6794A>G NP_000480.3:p.Glu2265Gly NC_000023.11:77523306:T:C p.(Glu2265Gly) NC_000023.11:77523306:T:C p.(Glu2265Gly) NC_000023.11:77523306:T:C Identity +NM_206933.4:c.9191del NP_996816.3:p.Thr3064fs NC_000001.11:215844360:G: p.(Thr3064MetfsTer3) NC_000001.11:215844360:G: p.(Thr3064MetfsTer3) NC_000001.11:215844360:G: Analogous +NM_001377456.1:c.1946_1952del NP_001364385.1:p.Asp649fs NC_000016.10:56485696:TTAAGGT: p.(Asp649ValfsTer5) NC_000016.10:56485696:TTAAGGT: p.(Asp649ValfsTer5) NC_000016.10:56485696:TTAAGGT: Analogous +NM_001321268.2:c.220G>T NP_001308197.1:p.Glu74Ter NC_000017.11:58213010:C:A p.(Glu74Ter) NC_000017.11:58213010:C:A p.(Glu74Ter) NC_000017.11:58213010:C:A Identity +NM_000055.4:c.185C>T NP_000046.1:p.Ala62Val NC_000003.12:165830848:G:A p.(Ala62Val) NC_000003.12:165830848:G:A p.(Ala62Val) NC_000003.12:165830848:G:A Identity +NM_001164277.2:c.1241T>C NP_001157749.1:p.Leu414Pro NC_000011.10:119024958:A:G p.(Leu414Pro) NC_000011.10:119024958:A:G p.(Leu414Pro) NC_000011.10:119024958:A:G Identity +NM_000138.5:c.2677G>A NP_000129.3:p.Asp893Asn NC_000015.10:48495122:C:T p.(Asp893Asn) NC_000015.10:48495122:C:T p.(Asp893Asn) NC_000015.10:48495122:C:T Identity +NM_000138.5:c.5950T>C NP_000129.3:p.Cys1984Arg NC_000015.10:48444627:A:G p.(Cys1984Arg) NC_000015.10:48444627:A:G p.(Cys1984Arg) NC_000015.10:48444627:A:G Identity +NM_000138.5:c.6628T>A NP_000129.3:p.Cys2210Ser NC_000015.10:48432976:A:T p.(Cys2210Ser) NC_000015.10:48432976:A:T p.(Cys2210Ser) NC_000015.10:48432976:A:T Identity +NM_000492.4:c.92G>A NP_000483.3:p.Arg31His NC_000007.14:117504290:G:A p.(Arg31His) NC_000007.14:117504290:G:A p.(Arg31His) NC_000007.14:117504290:G:A Identity +NM_001164277.2:c.958G>T NP_001157749.1:p.Val320Leu NC_000011.10:119025992:C:A p.(Val320Leu) NC_000011.10:119025992:C:A p.(Val320Leu) NC_000011.10:119025992:C:A Identity +NM_000128.4:c.1283C>T NP_000119.1:p.Thr428Ile NC_000004.12:186284238:C:T p.(Thr428Ile) NC_000004.12:186284238:C:T p.(Thr428Ile) NC_000004.12:186284238:C:T Identity +NM_000349.3:c.289AAG[1] NP_000340.2:p.Lys98del NC_000008.11:38148211:CTTCTTC:CTTC p.(Lys98del) NC_000008.11:38148216:T:CTT ERR:Parse ERR:Parse Identity +NM_001163817.2:c.523G>A NP_001157289.1:p.Asp175Asn NC_000011.10:71441329:C:T p.(Asp175Asn) NC_000011.10:71441329:C:T p.(Asp175Asn) NC_000011.10:71441329:C:T Identity +NM_003482.4:c.11739del NP_003473.3:p.Gln3913fs NC_000012.12:49032965:C: p.(Gln3913HisfsTer66) NC_000012.12:49032965:C: p.(Gln3913HisfsTer66) NC_000012.12:49032965:C: Analogous +NM_001253815.2:c.297G>C NP_001240744.1:p.Trp99Cys NC_000008.11:144359788:G:C p.(Trp99Cys) NC_000008.11:144359788:G:C p.(Trp99Cys) NC_000008.11:144359788:G:C Identity +NM_000017.4:c.1148G>A NP_000008.1:p.Arg383His NC_000012.12:120739356:G:A p.(Arg383His) NC_000012.12:120739356:G:A p.(Arg383His) NC_000012.12:120739356:G:A Identity +NM_001283009.2:c.525C>A NP_001269938.1:p.Tyr175Ter NC_000020.11:63662875:C:A p.(Tyr175Ter) NC_000020.11:63662875:C:A p.(Tyr175Ter) NC_000020.11:63662875:C:A Identity +NM_017882.3:c.702C>A NP_060352.1:p.Phe234Leu NC_000015.10:68208373:G:T p.(Phe234Leu) NC_000015.10:68208373:G:T p.(Phe234Leu) NC_000015.10:68208373:G:T Identity +NM_000108.5:c.1446_1447del NP_000099.2:p.Arg482fs NC_000007.14:107919078:AGAG:AG p.(Arg482SerfsTer13) NC_000007.14:107919078:AGAG:AG p.(Arg482SerfsTer13) NC_000007.14:107919080:AG: Analogous +NM_000152.5:c.2744A>C NP_000143.2:p.Gln915Pro NC_000017.11:80118749:A:C p.(Gln915Pro) NC_000017.11:80118749:A:C p.(Gln915Pro) NC_000017.11:80118749:A:C Identity +NM_001142763.2:c.5050_5053dup NP_001136235.1:p.Ser1685fs NC_000010.11:53822693:AAACA:AAACAAACA p.(Ser1685CysfsTer12) NC_000010.11:53822693:AAACA:AAACAAACA p.(Ser1685CysfsTer12) ERR:SPDI Analogous +NM_003482.4:c.16437del NP_003473.3:p.Asn5480fs NC_000012.12:49022126:A: p.(Asn5480ThrfsTer7) NC_000012.12:49022126:A: p.(Asn5480ThrfsTer7) NC_000012.12:49022126:A: Analogous +NM_001164277.2:c.93C>G NP_001157749.1:p.Phe31Leu NC_000011.10:119029276:G:C p.(Phe31Leu) NC_000011.10:119029276:G:C p.(Phe31Leu) NC_000011.10:119029276:G:C Identity +NM_001378454.1:c.2848G>T NP_001365383.1:p.Val950Leu NC_000002.12:73449374:G:T p.(Val950Leu) NC_000002.12:73449374:G:T p.(Val950Leu) NC_000002.12:73449374:G:T Identity +NM_001128227.3:c.173C>T NP_001121699.1:p.Pro58Leu NC_000009.12:36249275:G:A p.(Pro58Leu) NC_000009.12:36249275:G:A p.(Pro58Leu) NC_000009.12:36249275:G:A Identity +NM_000203.5:c.1708G>C NP_000194.2:p.Asp570His NC_000004.12:1003605:G:C p.(Asp570His) NC_000004.12:1003605:G:C p.(Asp570His) NC_000004.12:1003605:G:C Identity +NM_007123.6:c.1541T>C NP_009054.6:p.Ile514Thr NC_000001.11:216323482:A:G p.(Ile514Thr) NC_000001.11:216323482:A:G p.(Ile514Thr) NC_000001.11:216323482:A:G Identity +NM_004646.4:c.928G>A NP_004637.1:p.Asp310Asn NC_000019.10:35849059:C:T p.(Asp310Asn) NC_000019.10:35849059:C:T p.(Asp310Asn) NC_000019.10:35849059:C:T Identity +NM_000057.4:c.3222_3223del NP_000048.1:p.Asp1076fs NC_000015.10:90798200:AA: p.(Asp1076CysfsTer3) NC_000015.10:90798200:AA: p.(Asp1076CysfsTer3) NC_000015.10:90798200:AA: Analogous +NM_000135.4:c.457C>G NP_000126.2:p.Gln153Glu NC_000016.10:89810771:G:C p.(Gln153Glu) NC_000016.10:89810771:G:C p.(Gln153Glu) NC_000016.10:89810771:G:C Identity +NM_001164277.2:c.728G>A NP_001157749.1:p.Cys243Tyr NC_000011.10:119026992:C:T p.(Cys243Tyr) NC_000011.10:119026992:C:T p.(Cys243Tyr) NC_000011.10:119026992:C:T Identity +NM_001852.4:c.458C>T NP_001843.1:p.Pro153Leu NC_000001.11:40311674:G:A p.(Pro153Leu) NC_000001.11:40311674:G:A p.(Pro153Leu) NC_000001.11:40311674:G:A Identity +NM_000263.4:c.1932C>G NP_000254.2:p.Tyr644Ter NC_000017.11:42543937:C:G p.(Tyr644Ter) NC_000017.11:42543937:C:G p.(Tyr644Ter) NC_000017.11:42543937:C:G Identity +NM_004646.4:c.851del NP_004637.1:p.Pro284fs NC_000019.10:35849136:GG:G p.(Pro284ArgfsTer20) NC_000019.10:35849136:GG:G p.(Pro284ArgfsTer20) NC_000019.10:35849136:G: Analogous +NM_000048.4:c.260A>G NP_000039.2:p.Asp87Gly NC_000007.14:66082419:A:G p.(Asp87Gly) NC_000007.14:66082419:A:G p.(Asp87Gly) NC_000007.14:66082419:A:G Identity +NM_007123.6:c.2617G>A NP_009054.6:p.Gly873Arg NC_000001.11:216246776:C:T p.(Gly873Arg) NC_000001.11:216246776:C:T p.(Gly873Arg) NC_000001.11:216246776:C:T Identity +NM_012203.2:c.188_189del NP_036335.1:p.Val63fs NC_000009.12:37424947:GTG:G p.(Val63GlyfsTer29) NC_000009.12:37424947:GTG:G p.(Val63GlyfsTer29) NC_000009.12:37424948:TG: Analogous +NM_006019.4:c.629C>T NP_006010.2:p.Thr210Met NC_000011.10:68043495:C:T p.(Thr210Met) NC_000011.10:68043495:C:T p.(Thr210Met) NC_000011.10:68043495:C:T Identity +NM_000404.4:c.1609G>T NP_000395.3:p.Glu537Ter NC_000003.12:33014180:C:A p.(Glu537Ter) NC_000003.12:33014180:C:A p.(Glu537Ter) NC_000003.12:33014180:C:A Identity +NM_006019.4:c.725A>G NP_006010.2:p.His242Arg NC_000011.10:68043824:A:G p.(His242Arg) NC_000011.10:68043824:A:G p.(His242Arg) NC_000011.10:68043824:A:G Identity +NM_000441.2:c.1741_1742del NP_000432.1:p.Arg581fs NC_000007.14:107701131:AGAG:AG p.(Arg581AlafsTer26) NC_000007.14:107701131:AGAG:AG p.(Arg581AlafsTer26) NC_000007.14:107701133:AG: Analogous +NM_000137.4:c.1156G>C NP_000128.1:p.Asp386His NC_000015.10:80181134:G:C p.(Asp386His) NC_000015.10:80181134:G:C p.(Asp386His) NC_000015.10:80181134:G:C Identity +NM_000028.3:c.2975_2977TCT[1] NP_000019.2:p.Phe993del NC_000001.11:99891629:TTCTTCT:TTCT p.(Phe993del) NC_000001.11:99891630:TCT:TCT ERR:Parse ERR:Parse Identity +NM_001278055.2:c.2928TCT[1] NP_001264984.1:p.Leu978del NC_000013.11:23340501:AGAAGAA:AGAA p.(Leu978del) NC_000013.11:23340506:A:AGA ERR:Parse ERR:Parse Identity +NM_000441.2:c.149T>C NP_000432.1:p.Leu50Pro NC_000007.14:107661789:T:C p.(Leu50Pro) NC_000007.14:107661789:T:C p.(Leu50Pro) NC_000007.14:107661789:T:C Identity +NM_000286.3:c.987_988del NP_000277.1:p.Phe330fs NC_000017.11:35575873:ACACACA:ACACA p.(Phe330SerfsTer23) NC_000017.11:35575873:ACACACA:ACACA p.(Phe330SerfsTer23) NC_000017.11:35575873:AC: Analogous +NM_001122633.3:c.1323dup NP_001116105.2:p.Asp442Ter NC_000002.12:210595543:TTT:TTTT p.(Asp442Ter) NC_000002.12:210595543:TTT:TTTT p.(Asp442Ter) ERR:SPDI Identity +NM_000263.4:c.1772T>C NP_000254.2:p.Leu591Pro NC_000017.11:42543777:T:C p.(Leu591Pro) NC_000017.11:42543777:T:C p.(Leu591Pro) NC_000017.11:42543777:T:C Identity +NM_000182.5:c.129dup NP_000173.2:p.Gly44fs NC_000002.12:26238984:A:AA p.(Gly44TrpfsTer12) NC_000002.12:26238984:A:AA p.(Gly44TrpfsTer12) ERR:SPDI Analogous +NM_001164277.2:c.520G>A NP_001157749.1:p.Ala174Thr NC_000011.10:119027733:C:T p.(Ala174Thr) NC_000011.10:119027733:C:T p.(Ala174Thr) NC_000011.10:119027733:C:T Identity +NM_000227.6:c.4573del NP_000218.3:p.Asp1525fs NC_000018.10:23949811:GG:G p.(Asp1525IlefsTer62) NC_000018.10:23949811:GG:G p.(Asp1525IlefsTer62) NC_000018.10:23949812:G: Analogous +NM_206933.4:c.11703del NP_996816.3:p.Phe3901fs NC_000001.11:215741382:AAA:AA p.(Phe3901LeufsTer32) NC_000001.11:215741382:AAA:AA p.(Phe3901LeufsTer32) NC_000001.11:215741382:A: Analogous +NM_001378454.1:c.8756CTT[1] NP_001365383.1:p.Ser2920del NC_000002.12:73490714:CTTCTT:CTT p.(Ser2920del) NC_000002.12:73490714:C:CTT ERR:Parse ERR:Parse Identity +NM_000414.4:c.751C>T NP_000405.1:p.Arg251Trp NC_000005.10:119493828:C:T p.(Arg251Trp) NC_000005.10:119493828:C:T p.(Arg251Trp) NC_000005.10:119493828:C:T Identity +NM_001407571.1:c.5056_5057insC NP_001394500.1:p.Asp1686Alafs NC_000017.11:43057059::G p.(Asp1686AlafsTer73) NC_000017.11:43057058:T:G p.(Asp1686AlafsTer73) NC_000017.11:43057059:TC:G Analogous +NM_014301.4:c.400C>G NP_055116.1:p.Pro134Ala NC_000012.12:108568886:C:G p.(Pro134Ala) NC_000012.12:108568886:C:G p.(Pro134Ala) NC_000012.12:108568886:C:G Identity +NM_001014342.3:c.632C>G NP_001014364.1:p.Ser211Ter NC_000001.11:152357153:G:C p.(Ser211Ter) NC_000001.11:152357153:G:C p.(Ser211Ter) NC_000001.11:152357153:G:C Identity +NM_000053.4:c.3074T>G NP_000044.2:p.Met1025Arg NC_000013.11:51944277:A:C p.(Met1025Arg) NC_000013.11:51944277:A:C p.(Met1025Arg) NC_000013.11:51944277:A:C Identity +NM_000046.5:c.262C>T NP_000037.2:p.Gln88Ter NC_000005.10:78984986:G:A p.(Gln88Ter) NC_000005.10:78984986:G:A p.(Gln88Ter) NC_000005.10:78984986:G:A Identity +NM_000046.5:c.523T>G NP_000037.2:p.Tyr175Asp NC_000005.10:78964582:A:C p.(Tyr175Asp) NC_000005.10:78964582:A:C p.(Tyr175Asp) NC_000005.10:78964582:A:C Identity +NM_007294.3:c.4596_4597insCT NP_009225.1:p.Asp1533fs NC_000017.11:43074409:A:AGA ERR:Data provider error: ValueError: Transcript NM_007294.3 not found ERR:Data provider error: ValueError: Transcript NM_007294.3 not found ERR:AlignmentMapper(tx_ac=NM_007294.3, alt_ac=NM_007294.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007294.3, alt_ac=NM_007294.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007294.3 not found +NM_001407571.1:c.872dup NP_001394500.1:p.Asn292fs NC_000017.11:43094445:T:TT p.(Asn292GlufsTer3) NC_000017.11:43094445:T:TT p.(Asn292GlufsTer3) ERR:SPDI Analogous +NM_000059.4:c.9193_9194insA NP_000050.3:p.Phe3065fs NC_000013.11:32380082::A p.(Phe3065TyrfsTer7) NC_000013.11:32380081:T:A p.(Phe3065TyrfsTer7) NC_000013.11:32380082:TT:A Analogous +NM_000059.4:c.3448_3449insAG NP_000050.3:p.Thr1150fs NC_000013.11:32337803::AG p.(Thr1150LysfsTer4) NC_000013.11:32337802:A:AG p.(Thr1150LysfsTer4) NC_000013.11:32337803:AC:AG Analogous +NM_138694.4:c.5895_5896insAC NP_619639.3:p.Leu1966fs NC_000006.12:51959882::GT p.(Leu1966ThrfsTer9) NC_000006.12:51959881:G:GT p.(Leu1966ThrfsTer9) NC_000006.12:51959882:GT:GT Analogous +NM_000260.4:c.5886_5889del NP_000251.3:p.Phe1962fs NC_000011.10:77208456:TTCTTT:TT p.(Phe1962LeufsTer7) NC_000011.10:77208456:TTCTTT:TT p.(Phe1962LeufsTer7) NC_000011.10:77208458:CTTT: Analogous +NM_000441.2:c.227C>T NP_000432.1:p.Pro76Leu NC_000007.14:107663357:C:T p.(Pro76Leu) NC_000007.14:107663357:C:T p.(Pro76Leu) NC_000007.14:107663357:C:T Identity +NM_000053.4:c.4283dup NP_000044.2:p.Ser1429fs NC_000013.11:51934870:A:AA p.(Ser1429ValfsTer20) NC_000013.11:51934870:A:AA p.(Ser1429ValfsTer20) ERR:SPDI Analogous +NM_001081560.3:c.1682C>T NP_001075029.1:p.Pro561Leu NC_000019.10:45771010:G:A p.(Pro561Leu) NC_000019.10:45771010:G:A p.(Pro561Leu) NC_000019.10:45771010:G:A Identity +NM_000179.3:c.150G>T NP_000170.1:p.Trp50Cys NC_000002.12:47783382:G:T p.(Trp50Cys) NC_000002.12:47783382:G:T p.(Trp50Cys) NC_000002.12:47783382:G:T Identity +NM_000251.3:c.1313C>T NP_000242.1:p.Thr438Ile NC_000002.12:47445583:C:T p.(Thr438Ile) NC_000002.12:47445583:C:T p.(Thr438Ile) NC_000002.12:47445583:C:T Identity +NM_206933.4:c.8835G>A NP_996816.3:p.Trp2945Ter NC_000001.11:215867016:C:T p.(Trp2945Ter) NC_000001.11:215867016:C:T p.(Trp2945Ter) NC_000001.11:215867016:C:T Identity +NM_000091.5:c.2827G>A NP_000082.2:p.Gly943Arg NC_000002.12:227284290:G:A p.(Gly943Arg) NC_000002.12:227284290:G:A p.(Gly943Arg) NC_000002.12:227284290:G:A Identity +NM_000159.4:c.427G>A NP_000150.1:p.Val143Ile NC_000019.10:12893574:G:A p.(Val143Ile) NC_000019.10:12893574:G:A p.(Val143Ile) NC_000019.10:12893574:G:A Identity +NM_000057.4:c.4132G>T NP_000048.1:p.Gly1378Ter NC_000015.10:90815156:G:T p.(Gly1378Ter) NC_000015.10:90815156:G:T p.(Gly1378Ter) NC_000015.10:90815156:G:T Identity +NM_001122633.3:c.2944G>A NP_001116105.2:p.Gly982Ser NC_000002.12:210640043:G:A p.(Gly982Ser) NC_000002.12:210640043:G:A p.(Gly982Ser) NC_000002.12:210640043:G:A Identity +NM_001142763.2:c.4957A>G NP_001136235.1:p.Met1653Val NC_000010.11:53822789:T:C p.(Met1653Val) NC_000010.11:53822789:T:C p.(Met1653Val) NC_000010.11:53822789:T:C Identity +LRG_1255t1:c.27_37del LRG_1255p1:p.Ser10fs NC_000012.12:76348321:CCTTCACAGACCCT:CCT ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found +NM_000138.5:c.479G>A NP_000129.3:p.Cys160Tyr NC_000015.10:48596341:C:T p.(Cys160Tyr) NC_000015.10:48596341:C:T p.(Cys160Tyr) NC_000015.10:48596341:C:T Identity +NM_000138.5:c.590del NP_000129.3:p.Gly197fs NC_000015.10:48537756:CCC:CC p.(Gly197AspfsTer133) NC_000015.10:48537756:CCC:CC p.(Gly197AspfsTer133) NC_000015.10:48537756:C: Analogous +NM_000138.5:c.6790del NP_000129.3:p.Glu2264fs NC_000015.10:48430751:CC:C p.(Glu2264AsnfsTer27) NC_000015.10:48430751:CC:C p.(Glu2264AsnfsTer27) NC_000015.10:48430751:C: Analogous +NM_000138.5:c.7022_7023del NP_000129.3:p.Thr2341fs NC_000015.10:48427747:TGTG:TG p.(Thr2341ArgfsTer25) NC_000015.10:48427747:TGTG:TG p.(Thr2341ArgfsTer25) NC_000015.10:48427747:TG: Analogous +NM_000282.4:c.1593_1595del NP_000273.2:p.Leu532del NC_000013.11:100340208:ATT: p.(Leu532del) NC_000013.11:100340208:ATT: p.(Leu532del) NC_000013.11:100340208:ATT: Identity +NM_000203.5:c.1832_1833del NP_000194.2:p.Thr611fs NC_000004.12:1004259:ACACA:ACA p.(Thr611ArgfsTer47) NC_000004.12:1004259:ACACA:ACA p.(Thr611ArgfsTer47) NC_000004.12:1004262:CA: Analogous +NM_000138.5:c.7850G>A NP_000129.3:p.Cys2617Tyr NC_000015.10:48415736:C:T p.(Cys2617Tyr) NC_000015.10:48415736:C:T p.(Cys2617Tyr) NC_000015.10:48415736:C:T Identity +NM_000138.5:c.8015G>C NP_000129.3:p.Cys2672Ser NC_000015.10:48415571:C:G p.(Cys2672Ser) NC_000015.10:48415571:C:G p.(Cys2672Ser) NC_000015.10:48415571:C:G Identity +NM_006231.4:c.3787A>G NP_006222.2:p.Thr1263Ala NC_000012.12:132649684:T:C p.(Thr1263Ala) NC_000012.12:132649684:T:C p.(Thr1263Ala) NC_000012.12:132649684:T:C Identity +NM_002943.4:c.879_880del NP_002934.1:p.Ser294fs NC_000015.10:60511240:ACACA:ACA p.(Ser294HisfsTer13) NC_000015.10:60511240:ACACA:ACA p.(Ser294HisfsTer13) NC_000015.10:60511240:AC: Analogous +NM_001079823.2:c.2089A>G NP_001073291.2:p.Ile697Val NC_000006.12:129252287:A:G p.(Ile697Val) NC_000006.12:129252287:A:G p.(Ile697Val) NC_000006.12:129252287:A:G Identity +NM_006261.5:c.37AAG[1] NP_006252.4:p.Lys14del NC_000005.10:177995891:CTTCTT:CTT p.(Lys14del) NC_000005.10:177995896:T:CTT ERR:Parse ERR:Parse Identity +NM_000227.6:c.2248C>T NP_000218.3:p.Gln750Ter NC_000018.10:23909211:C:T p.(Gln750Ter) NC_000018.10:23909211:C:T p.(Gln750Ter) NC_000018.10:23909211:C:T Identity +NM_001278055.2:c.6638_6640del NP_001264984.1:p.Ser2213del NC_000013.11:23336794:AAGAA:AA p.(Ser2213del) NC_000013.11:23336794:AAGAA:AA p.(Ser2213del) NC_000013.11:23336794:AAG: Identity +NM_000051.4:c.1945GAA[1] NP_000042.3:p.Glu650del NC_000011.10:108253858:AGAAGAA:AGAA p.(Glu650del) NC_000011.10:108253859:G:GAA ERR:Parse ERR:Parse Identity +NM_000051.4:c.3292del NP_000042.3:p.Gln1098fs NC_000011.10:108279496:CC:C p.(Gln1098ArgfsTer11) NC_000011.10:108279496:CC:C p.(Gln1098ArgfsTer11) NC_000011.10:108279497:C: Analogous +NM_001363505.2:c.361C>T NP_001350434.1:p.Arg121Ter NC_000011.10:102066576:C:T p.(Arg121Ter) NC_000011.10:102066576:C:T p.(Arg121Ter) NC_000011.10:102066576:C:T Identity +NM_000487.6:c.206_209del NP_000478.3:p.Ser69fs NC_000022.11:50627570:AGAGA:A p.(Ser69CysfsTer10) NC_000022.11:50627570:AGAGA:A p.(Ser69CysfsTer10) NC_000022.11:50627570:AGAG: Analogous +NM_000055.4:c.1504T>C NP_000046.1:p.Phe502Leu NC_000003.12:165829529:A:G p.(Phe502Leu) NC_000003.12:165829529:A:G p.(Phe502Leu) NC_000003.12:165829529:A:G Identity +NM_000153.4:c.206G>A NP_000144.2:p.Arg69Gln NC_000014.9:87988512:C:T p.(Arg69Gln) NC_000014.9:87988512:C:T p.(Arg69Gln) NC_000014.9:87988512:C:T Identity +NM_003823.4:c.769C>A NP_003814.1:p.Leu257Met NC_000020.11:63698428:C:A p.(Leu257Met) NC_000020.11:63698428:C:A p.(Leu257Met) NC_000020.11:63698428:C:A Identity +NM_001193307.2:c.132del NP_001180236.1:p.Val45fs NC_000007.14:93105965:T: p.(Val45SerfsTer2) NC_000007.14:93105965:T: p.(Val45SerfsTer2) NC_000007.14:93105965:T: Analogous +NM_001122633.3:c.2732G>A NP_001116105.2:p.Gly911Glu NC_000002.12:210637745:G:A p.(Gly911Glu) NC_000002.12:210637745:G:A p.(Gly911Glu) NC_000002.12:210637745:G:A Identity +NM_000028.3:c.3538delT NP_000019.2:p.Ser1180Profs NC_000001.11:99900808:TTT:TT p.(Ser1180ProfsTer47) NC_000001.11:99900808:TTT:TT p.(Ser1180ProfsTer47) NC_000001.11:99900810:T: Analogous +NM_001166136.2:c.3636GAA[1] NP_001159608.1:p.Lys1213del NC_000004.12:5562893:TTCTTCTT:TTCTT p.(Lys1213del) NC_000004.12:5562898:C:TTC ERR:Parse ERR:Parse Identity +NM_000492.4:c.1543T>C NP_000483.3:p.Tyr515His NC_000007.14:117559613:T:C p.(Tyr515His) NC_000007.14:117559613:T:C p.(Tyr515His) NC_000007.14:117559613:T:C Identity +NM_000053.4:c.3451C>G NP_000044.2:p.Arg1151Gly NC_000013.11:51941185:G:C p.(Arg1151Gly) NC_000013.11:51941185:G:C p.(Arg1151Gly) NC_000013.11:51941185:G:C Identity +NM_000352.6:c.2835_2838del NP_000343.2:p.Arg946fs NC_000011.10:17407435:TCTCTCT:TCT p.(Arg946LysfsTer95) NC_000011.10:17407435:TCTCTCT:TCT p.(Arg946LysfsTer95) NC_000011.10:17407435:TCTC: Analogous +NM_001128227.3:c.95T>C NP_001121699.1:p.Met32Thr NC_000009.12:36249353:A:G p.(Met32Thr) NC_000009.12:36249353:A:G p.(Met32Thr) NC_000009.12:36249353:A:G Identity +NM_000018.4:c.759_761del NP_000009.1:p.Gly254del NC_000017.11:7222180:GGGGG:GG p.(Gly254del) NC_000017.11:7222180:GGGGG:GG p.(Gly254del) NC_000017.11:7222182:GGG: Identity +NM_001323582.2:c.1298dup NP_001310511.1:p.Tyr433Terfs NC_000003.12:15645213:A:AA p.(Tyr433Ter) NC_000003.12:15645213:A:AA p.(Tyr433Ter) ERR:SPDI Analogous +NM_001163817.2:c.704T>C NP_001157289.1:p.Phe235Ser NC_000011.10:71439005:A:G p.(Phe235Ser) NC_000011.10:71439005:A:G p.(Phe235Ser) NC_000011.10:71439005:A:G Identity +LRG_1255t1:c.784_785del LRG_1255p1:p.Glu262fs NC_000012.12:76347199:TCT:T ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found +NM_001378454.1:c.4123A>G NP_001365383.1:p.Thr1375Ala NC_000002.12:73450649:A:G p.(Thr1375Ala) NC_000002.12:73450649:A:G p.(Thr1375Ala) NC_000002.12:73450649:A:G Identity +NM_001130978.2:c.5017CTC[1] NP_001124450.1:p.Leu1674del NC_000002.12:71664333:CCTCCTC:CCTC p.(Leu1674del) NC_000002.12:71664334:C:CTC ERR:Parse ERR:Parse Identity +NM_000260.4:c.5507T>C NP_000251.3:p.Leu1836Pro NC_000011.10:77205487:T:C p.(Leu1836Pro) NC_000011.10:77205487:T:C p.(Leu1836Pro) NC_000011.10:77205487:T:C Identity +NM_000282.4:c.722del NP_000273.2:p.Gly241fs NC_000013.11:100262732:GG:G p.(Gly241ValfsTer19) NC_000013.11:100262732:GG:G p.(Gly241ValfsTer19) NC_000013.11:100262733:G: Analogous +NM_001122633.3:c.3265C>T NP_001116105.2:p.Arg1089Cys NC_000002.12:210647985:C:T p.(Arg1089Cys) NC_000002.12:210647985:C:T p.(Arg1089Cys) NC_000002.12:210647985:C:T Identity +NM_001164674.2:c.244G>T NP_001158146.1:p.Gly82Ter NC_000003.12:4467001:C:A p.(Gly82Ter) NC_000003.12:4467001:C:A p.(Gly82Ter) NC_000003.12:4467001:C:A Identity +NM_000152.5:c.1165del NP_000143.2:p.Glu389fs NC_000017.11:80108576:GG:G p.(Glu389ArgfsTer3) NC_000017.11:80108576:GG:G p.(Glu389ArgfsTer3) NC_000017.11:80108577:G: Analogous +NM_000124.4:c.1821delinsAA NP_000115.1:p.Glu608fs NC_000010.11:49493116:C:TT p.(Glu608LysfsTer27) NC_000010.11:49493115:CC:CTT p.(Glu608ArgfsTer27) NC_000010.11:49493116:C:TT Analogous +NM_001164507.2:c.24301_24305dup NP_001157979.2:p.Tyr8103fs NC_000002.12:151497028:AACAC:AACACAACAC p.(Tyr8103CysfsTer44) NC_000002.12:151497028:AACAC:AACACAACAC p.(Tyr8103CysfsTer44) ERR:SPDI Analogous +NM_000187.4:c.473C>T NP_000178.2:p.Pro158Leu NC_000003.12:120647048:G:A p.(Pro158Leu) NC_000003.12:120647048:G:A p.(Pro158Leu) NC_000003.12:120647048:G:A Identity +NM_000018.4:c.192del NP_000009.1:p.Lys64fs NC_000017.11:7220511:AAAAAA:AAAAA p.(Lys64AsnfsTer53) NC_000017.11:7220511:AAAAAA:AAAAA p.(Lys64AsnfsTer53) NC_000017.11:7220516:A: Analogous +NM_001378454.1:c.6799A>G NP_001365383.1:p.Met2267Val NC_000002.12:73453325:A:G p.(Met2267Val) NC_000002.12:73453325:A:G p.(Met2267Val) NC_000002.12:73453325:A:G Identity +NM_007123.6:c.4174G>T NP_009054.6:p.Gly1392Ter NC_000001.11:216196629:C:A p.(Gly1392Ter) NC_000001.11:216196629:C:A p.(Gly1392Ter) NC_000001.11:216196629:C:A Identity +NM_032520.5:c.836T>A NP_115909.1:p.Leu279Ter NC_000016.10:1363008:T:A p.(Leu279Ter) NC_000016.10:1363008:T:A p.(Leu279Ter) NC_000016.10:1363008:T:A Identity +NM_000182.5:c.2227_2228del NP_000173.2:p.Gln743fs NC_000002.12:26191313:TGT:T p.(Gln743ValfsTer9) NC_000002.12:26191313:TGT:T p.(Gln743ValfsTer9) NC_000002.12:26191313:TG: Analogous +NM_001031847.3:c.194TGG[2] NP_001027017.1:p.Val67del NC_000011.10:68812515:CCACCACCAC:CCACCAC p.(Val67del) NC_000011.10:68812523:A:CCACCA ERR:Parse ERR:Parse Identity +NM_007123.6:c.538T>C NP_009054.6:p.Ser180Pro NC_000001.11:216418626:A:G p.(Ser180Pro) NC_000001.11:216418626:A:G p.(Ser180Pro) NC_000001.11:216418626:A:G Identity +NM_012434.5:c.1479dup NP_036566.1:p.Arg494fs NC_000006.12:73595085:G:GG p.(Arg494GlnfsTer21) NC_000006.12:73595085:G:GG p.(Arg494GlnfsTer21) ERR:SPDI Analogous +NM_007123.6:c.419C>A NP_009054.6:p.Pro140His NC_000001.11:216421917:G:T p.(Pro140His) NC_000001.11:216421917:G:T p.(Pro140His) NC_000001.11:216421917:G:T Identity +NM_000155.4:c.979_986del NP_000146.2:p.Leu327fs NC_000009.12:34649478:CGCTCCTGCGCTC:CGCTC p.(Leu327CysfsTer23) NC_000009.12:34649478:CGCTCCTGCGCTC:CGCTC p.(Leu327CysfsTer23) NC_000009.12:34649483:CTGCGCTC: Analogous +NM_000492.4:c.1585G>A NP_000483.3:p.Asp529Asn NC_000007.14:117587738:G:A p.(Asp529Asn) NC_000007.14:117587738:G:A p.(Asp529Asn) NC_000007.14:117587738:G:A Identity +NM_001127717.4:c.3936C>A NP_001121189.2:p.Cys1312Ter NC_000018.10:23847467:C:A p.(Cys1312Ter) NC_000018.10:23847467:C:A p.(Cys1312Ter) NC_000018.10:23847467:C:A Identity +NM_000152.5:c.1978C>T NP_000143.2:p.Arg660Cys NC_000017.11:80112964:C:T p.(Arg660Cys) NC_000017.11:80112964:C:T p.(Arg660Cys) NC_000017.11:80112964:C:T Identity +NM_000082.4:c.313_314del NP_000073.1:p.Val105fs NC_000005.10:60918349:ACA:A p.(Val105ThrfsTer6) NC_000005.10:60918349:ACA:A p.(Val105ThrfsTer6) NC_000005.10:60918349:AC: Analogous +NM_000414.4:c.1613G>A NP_000405.1:p.Gly538Glu NC_000005.10:119525955:G:A p.(Gly538Glu) NC_000005.10:119525955:G:A p.(Gly538Glu) NC_000005.10:119525955:G:A Identity +NM_001692.4:c.484G>T NP_001683.2:p.Glu162Ter NC_000002.12:70959976:G:T p.(Glu162Ter) NC_000002.12:70959976:G:T p.(Glu162Ter) NC_000002.12:70959976:G:T Identity +NM_001079866.2:c.53del NP_001073335.1:p.Ala18fs NC_000002.12:218661039:C: p.(Ala18ValfsTer31) NC_000002.12:218661039:C: p.(Ala18ValfsTer31) NC_000002.12:218661039:C: Analogous +NM_001048171.2:c.1183_1185delinsC NP_001041636.2:p.Glu395fs NC_000001.11:45331473:TTC:G p.(Glu395ProfsTer108) NC_000001.11:45331473:TTC:G p.(Glu395ProfsTer108) NC_000001.11:45331473:TTC:G Analogous +NM_001322019.2:c.215A>T NP_001308948.1:p.Lys72Ile NC_000002.12:240022200:T:A p.(Lys72Ile) NC_000002.12:240022200:T:A p.(Lys72Ile) NC_000002.12:240022200:T:A Identity +NM_001320893.1:c.1172dup NP_001307822.1:p.Arg392fs NC_000002.12:25244578:CCCCC:CCCCCC p.(Arg392ProfsTer2) NC_000002.12:25244578:CCCCC:CCCCCC p.(Arg392ProfsTer2) ERR:SPDI Analogous +NM_147127.5:c.62dup NP_667338.3:p.Ala22fs NC_000004.12:5708451:A:AA p.(Ala22GlyfsTer34) NC_000004.12:5708451:A:AA p.(Ala22GlyfsTer34) ERR:SPDI Analogous +NM_004646.4:c.644T>G NP_004637.1:p.Leu215Arg NC_000019.10:35849617:A:C p.(Leu215Arg) NC_000019.10:35849617:A:C p.(Leu215Arg) NC_000019.10:35849617:A:C Identity +NM_001142771.2:c.102T>G NP_001136243.1:p.Tyr34Ter NC_000010.11:54528391:A:C p.(Tyr34Ter) NC_000010.11:54528391:A:C p.(Tyr34Ter) NC_000010.11:54528391:A:C Identity +NM_001278055.2:c.5790_5792del NP_001264984.1:p.Met1930del NC_000013.11:23337642:ATCAT:AT p.(Met1930del) NC_000013.11:23337642:ATCAT:AT p.(Met1930del) NC_000013.11:23337642:ATC: Identity +NM_000137.4:c.974C>T NP_000128.1:p.Thr325Met NC_000015.10:80180136:C:T p.(Thr325Met) NC_000015.10:80180136:C:T p.(Thr325Met) NC_000015.10:80180136:C:T Identity +NM_005596.3:c.109C>T NP_005587.2:p.Arg37Ter NC_000009.12:14307441:G:A p.(Arg37Ter) NC_000009.12:14307441:G:A p.(Arg37Ter) NC_000009.12:14307441:G:A Identity +NM_001297764.2:c.1369dup NP_001284693.1:p.Ile457fs NC_000011.10:17501104:T:TT p.(Ile457AsnfsTer11) NC_000011.10:17501104:T:TT p.(Ile457AsnfsTer11) ERR:SPDI Analogous +NM_001330540.2:c.448dup NP_001317469.1:p.Asp150fs NC_000001.11:45508982:GGG:GGGG p.(Asp150GlyfsTer38) NC_000001.11:45508982:GGG:GGGG p.(Asp150GlyfsTer38) ERR:SPDI Analogous +NM_000053.4:c.3272G>A NP_000044.2:p.Cys1091Tyr NC_000013.11:51942525:C:T p.(Cys1091Tyr) NC_000013.11:51942525:C:T p.(Cys1091Tyr) NC_000013.11:51942525:C:T Identity +NM_001378454.1:c.1196_1202del NP_001365383.1:p.Thr399fs NC_000002.12:73424857:GGACACAGGA:GGA p.(Thr399LysfsTer11) NC_000002.12:73424857:GGACACAGGA:GGA p.(Thr399LysfsTer11) NC_000002.12:73424860:CACAGGA: Analogous +NM_001134670.2:c.22TCT[1] NP_001128142.1:p.Ser9del NC_000010.11:97584724:TCTTCT:TCT p.(Ser9del) NC_000010.11:97584724:T:TCT ERR:Parse ERR:Parse Identity +NM_001278055.2:c.4917TGA[1] NP_001264984.1:p.Asp1641del NC_000013.11:23338512:TCATCATC:TCATC p.(Asp1641del) NC_000013.11:23338517:A:TCA ERR:Parse ERR:Parse Identity +NM_000016.6:c.1073A>T NP_000007.1:p.Lys358Met NC_000001.11:75761248:A:T p.(Lys358Met) NC_000001.11:75761248:A:T p.(Lys358Met) NC_000001.11:75761248:A:T Identity +NM_000263.4:c.2158C>T NP_000254.2:p.Arg720Ter NC_000017.11:42544163:C:T p.(Arg720Ter) NC_000017.11:42544163:C:T p.(Arg720Ter) NC_000017.11:42544163:C:T Identity +NM_001164507.2:c.25012delinsTA NP_001157979.2:p.Glu8338Ter NC_000002.12:151492142:C:TA p.(Glu8338Ter) NC_000002.12:151492142:C:TA p.(Glu8338Ter) NC_000002.12:151492142:C:TA Identity +NM_001376472.1:c.983G>A NP_001363401.1:p.Arg328His NC_000022.11:50064109:C:T p.(Arg328His) NC_000022.11:50064109:C:T p.(Arg328His) NC_000022.11:50064109:C:T Identity +NM_001042497.2:c.3G>A NP_001035962.1:p.Met1Ile NC_000015.10:34336677:C:T p.(Met1Ile) NC_000015.10:34336677:C:T p.Met1? NC_000015.10:34336677:C:T Identity +NM_015506.3:c.2T>C NP_056321.2:p.Met1Thr NC_000001.11:45500333:T:C p.(Met1Thr) NC_000001.11:45500333:T:C p.Met1? NC_000001.11:45500333:T:C Identity +NM_001318360.2:c.3280_3282del NP_001305289.1:p.Lys1094del NC_000009.12:108878698:TTT: p.(Lys1094del) NC_000009.12:108878698:TTT: p.(Lys1094del) NC_000009.12:108878698:TTT: Identity +NM_000030.3:c.126dup NP_000021.1:p.Leu43fs NC_000002.12:240868985:GGGGGG:GGGGGGG p.(Leu43AlafsTer125) NC_000002.12:240868985:GGGGGG:GGGGGGG p.(Leu43AlafsTer125) ERR:SPDI Analogous +NM_000151.4:c.47C>G NP_000142.2:p.Thr16Arg NC_000017.11:42900922:C:G p.(Thr16Arg) NC_000017.11:42900922:C:G p.(Thr16Arg) NC_000017.11:42900922:C:G Identity +NM_000478.6:c.427del NP_000469.3:p.Gln143fs NC_000001.11:21563236:CCC:CC p.(Gln143ArgfsTer22) NC_000001.11:21563236:CCC:CC p.(Gln143ArgfsTer22) NC_000001.11:21563238:C: Analogous +NM_000098.3:c.1432C>T NP_000089.1:p.Gln478Ter NC_000001.11:53211105:C:T p.(Gln478Ter) NC_000001.11:53211105:C:T p.(Gln478Ter) NC_000001.11:53211105:C:T Identity +NM_001374425.1:c.20del NP_001361354.1:p.Ser7fs NC_000001.11:2412482:C: p.(Ser7ThrfsTer5) NC_000001.11:2412482:C: p.(Ser7ThrfsTer5) NC_000001.11:2412482:C: Analogous +NM_000288.4:c.817del NP_000279.1:p.Ser273fs NC_000006.12:136898151:TTTT:TTT p.(Ser273GlnfsTer20) NC_000006.12:136898151:TTTT:TTT p.(Ser273GlnfsTer20) NC_000006.12:136898154:T: Analogous +NM_138694.4:c.11740C>T NP_619639.3:p.Arg3914Ter NC_000006.12:51627041:G:A p.(Arg3914Ter) NC_000006.12:51627041:G:A p.(Arg3914Ter) NC_000006.12:51627041:G:A Identity +NM_001024688.3:c.1992C>G NP_001019859.1:p.Tyr664Ter NC_000008.11:89935608:G:C p.(Tyr664Ter) NC_000008.11:89935608:G:C p.(Tyr664Ter) NC_000008.11:89935608:G:C Identity +NM_001308122.2:c.252_265dup NP_001295051.1:p.Ile89fs NC_000005.10:132370222:ACCGGCTCGCCACCA:ACCGGCTCGCCACCACCGGCTCGCCACCA p.(Ile89ThrfsTer46) NC_000005.10:132370222:ACCGGCTCGCCACCA:ACCGGCTCGCCACCACCGGCTCGCCACCA p.(Ile89ThrfsTer46) ERR:SPDI Analogous +NM_000380.4:c.235G>T NP_000371.1:p.Glu79Ter NC_000009.12:97693696:C:A p.(Glu79Ter) NC_000009.12:97693696:C:A p.(Glu79Ter) NC_000009.12:97693696:C:A Identity +NM_001142763.2:c.4942C>T NP_001136235.1:p.Gln1648Ter NC_000010.11:53822804:G:A p.(Gln1648Ter) NC_000010.11:53822804:G:A p.(Gln1648Ter) NC_000010.11:53822804:G:A Identity +NM_206933.4:c.4679C>A NP_996816.3:p.Ala1560Glu NC_000001.11:216097161:G:T p.(Ala1560Glu) NC_000001.11:216097161:G:T p.(Ala1560Glu) NC_000001.11:216097161:G:T Identity +NM_001031806.2:c.1258dup NP_001026976.1:p.Ser420fs NC_000017.11:19671766:TTTTT:TTTTTT p.(Ser420PhefsTer17) NC_000017.11:19671766:TTTTT:TTTTTT p.(Ser420PhefsTer17) ERR:SPDI Analogous +NM_000370.3:c.807T>A NP_000361.1:p.Tyr269Ter NC_000008.11:63061281:A:T p.(Tyr269Ter) NC_000008.11:63061281:A:T p.(Tyr269Ter) NC_000008.11:63061281:A:T Identity +NM_000382.3:c.682C>T NP_000373.1:p.Arg228Cys NC_000017.11:19657745:C:T p.(Arg228Cys) NC_000017.11:19657745:C:T p.(Arg228Cys) NC_000017.11:19657745:C:T Identity +NM_000135.4:c.2051T>C NP_000126.2:p.Leu684Pro NC_000016.10:89771777:A:G p.(Leu684Pro) NC_000016.10:89771777:A:G p.(Leu684Pro) NC_000016.10:89771777:A:G Identity +NM_001142763.2:c.5376_5386del NP_001136235.1:p.Ile1793fs NC_000010.11:53822360:GAAGAGGGATAGAAG:GAAG p.(Ile1793SerfsTer58) NC_000010.11:53822360:GAAGAGGGATAGAAG:GAAG p.(Ile1793SerfsTer58) NC_000010.11:53822360:GAAGAGGGATA: Analogous +NM_001164277.2:c.805del NP_001157749.1:p.Leu269fs NC_000011.10:119026667:GGG:GG p.(Leu269TrpfsTer7) NC_000011.10:119026667:GGG:GG p.(Leu269TrpfsTer7) NC_000011.10:119026667:G: Analogous +NM_000098.3:c.37_39del NP_000089.1:p.Gly13del NC_000001.11:53196979:GGC: p.(Gly13del) NC_000001.11:53196979:GGC: p.(Gly13del) NC_000001.11:53196979:GGC: Identity +NM_000048.4:c.1311T>G NP_000039.2:p.Tyr437Ter NC_000007.14:66092827:T:G p.(Tyr437Ter) NC_000007.14:66092827:T:G p.(Tyr437Ter) NC_000007.14:66092827:T:G Identity +NM_000152.5:c.1496G>A NP_000143.2:p.Trp499Ter NC_000017.11:80110784:G:A p.(Trp499Ter) NC_000017.11:80110784:G:A p.(Trp499Ter) NC_000017.11:80110784:G:A Identity +NM_000337.6:c.663C>A NP_000328.2:p.Cys221Ter NC_000005.10:156757667:C:A p.(Cys221Ter) NC_000005.10:156757667:C:A p.(Cys221Ter) NC_000005.10:156757667:C:A Identity +NM_000170.3:c.2578G>C NP_000161.2:p.Gly860Arg NC_000009.12:6540137:C:G p.(Gly860Arg) NC_000009.12:6540137:C:G p.(Gly860Arg) NC_000009.12:6540137:C:G Identity +NM_017890.5:c.4188A>T NP_060360.3:p.Gln1396His NC_000008.11:99507799:A:T p.(Gln1396His) NC_000008.11:99507799:A:T p.(Gln1396His) NC_000008.11:99507799:A:T Identity +NM_001130455.2:c.3604C>T NP_001123927.1:p.Gln1202Ter NC_000002.12:71598643:C:T p.(Gln1202Ter) NC_000002.12:71598643:C:T p.(Gln1202Ter) NC_000002.12:71598643:C:T Identity +NM_000152.5:c.241C>T NP_000143.2:p.Gln81Ter NC_000017.11:80104826:C:T p.(Gln81Ter) NC_000017.11:80104826:C:T p.(Gln81Ter) NC_000017.11:80104826:C:T Identity +NM_000227.6:c.3959T>G NP_000218.3:p.Leu1320Ter NC_000018.10:23933858:T:G p.(Leu1320Ter) NC_000018.10:23933858:T:G p.(Leu1320Ter) NC_000018.10:23933858:T:G Identity +NM_001378454.1:c.2753C>G NP_001365383.1:p.Ser918Cys NC_000002.12:73449279:C:G p.(Ser918Cys) NC_000002.12:73449279:C:G p.(Ser918Cys) NC_000002.12:73449279:C:G Identity +NM_000110.4:c.2378C>T NP_000101.2:p.Thr793Ile NC_000001.11:97234915:G:A p.(Thr793Ile) NC_000001.11:97234915:G:A p.(Thr793Ile) NC_000001.11:97234915:G:A Identity +NM_000135.4:c.3884T>G NP_000126.2:p.Leu1295Ter NC_000016.10:89740043:A:C p.(Leu1295Ter) NC_000016.10:89740043:A:C p.(Leu1295Ter) NC_000016.10:89740043:A:C Identity +NM_000091.5:c.4802del NP_000082.2:p.Pro1601fs NC_000002.12:227310818:CCCC:CCC p.(Pro1601LeufsTer14) NC_000002.12:227310818:CCCC:CCC p.(Pro1601LeufsTer14) NC_000002.12:227310821:C: Analogous +NM_000227.6:c.767_770del NP_000218.3:p.Thr256fs NC_000018.10:23895037:ACCCA:A p.(Thr256ArgfsTer5) NC_000018.10:23895037:ACCCA:A p.(Thr256ArgfsTer5) NC_000018.10:23895038:CCCA: Analogous +NM_000492.4:c.558C>G NP_000483.3:p.Asn186Lys NC_000007.14:117534343:C:G p.(Asn186Lys) NC_000007.14:117534343:C:G p.(Asn186Lys) NC_000007.14:117534343:C:G Identity +NM_000383.4:c.512_516dup NP_000374.1:p.Gln173fs NC_000021.9:44287560:GCAGAGCAG:GCAGAGCAGAGCAG p.(Gln173SerfsTer207) NC_000021.9:44287560:GCAGAGCAG:GCAGAGCAGAGCAG p.(Gln173SerfsTer207) ERR:SPDI Analogous +NM_138694.4:c.8893T>C NP_619639.3:p.Cys2965Arg NC_000006.12:51753257:A:G p.(Cys2965Arg) NC_000006.12:51753257:A:G p.(Cys2965Arg) NC_000006.12:51753257:A:G Identity +NM_000227.6:c.1740del NP_000218.3:p.Glu581fs NC_000018.10:23904644:CC:C p.(Glu581ArgfsTer18) NC_000018.10:23904644:CC:C p.(Glu581ArgfsTer18) NC_000018.10:23904645:C: Analogous +NM_001289156.2:c.841del NP_001276085.1:p.Glu281fs NC_000015.10:74897155:GG:G p.(Glu281LysfsTer18) NC_000015.10:74897155:GG:G p.(Glu281LysfsTer18) NC_000015.10:74897156:G: Analogous +NM_000404.4:c.846del NP_000395.3:p.Thr283fs NC_000003.12:33051950:GG:G p.(Thr283GlnfsTer21) NC_000003.12:33051950:GG:G p.(Thr283GlnfsTer21) NC_000003.12:33051950:G: Analogous +NM_000182.5:c.2026del NP_000173.2:p.Arg676fs NC_000002.12:26191602:GG:G p.(Arg676AlafsTer3) NC_000002.12:26191602:GG:G p.(Arg676AlafsTer3) NC_000002.12:26191602:G: Analogous +NM_001131019.3:c.1105C>G NP_001124491.1:p.Leu369Val NC_000017.11:44911257:G:C p.(Leu369Val) NC_000017.11:44911257:G:C p.(Leu369Val) NC_000017.11:44911257:G:C Identity +NM_000287.4:c.970G>A NP_000278.3:p.Glu324Lys NC_000006.12:42974950:C:T p.(Glu324Lys) NC_000006.12:42974950:C:T p.(Glu324Lys) NC_000006.12:42974950:C:T Identity +NM_001079802.2:c.1264_1286del NP_001073270.1:p.Asn422fs NC_000009.12:105635141:AACTATGGTAAGACCTGGAAGAT: p.(Asn422SerfsTer24) NC_000009.12:105635141:AACTATGGTAAGACCTGGAAGAT: p.(Asn422SerfsTer24) NC_000009.12:105635141:AACTATGGTAAGACCTGGAAGAT: Analogous +NM_001330540.2:c.444C>A NP_001317469.1:p.Tyr148Ter NC_000001.11:45508980:C:A p.(Tyr148Ter) NC_000001.11:45508980:C:A p.(Tyr148Ter) NC_000001.11:45508980:C:A Identity +NM_000151.4:c.447G>A NP_000142.2:p.Arg149= NC_000017.11:42909302:G:A p.(Arg149=) NC_000017.11:42909302:G:A p.(Arg149=) NC_000017.11:42909302:G:A Identity +NM_000497.4:c.147del NP_000488.3:p.Trp49fs NC_000008.11:142879666:CC:C p.(Trp49CysfsTer2) NC_000008.11:142879666:CC:C p.(Trp49CysfsTer2) NC_000008.11:142879666:C: Analogous +NM_206933.4:c.5051C>T NP_996816.3:p.Pro1684Leu NC_000001.11:216084813:G:A p.(Pro1684Leu) NC_000001.11:216084813:G:A p.(Pro1684Leu) NC_000001.11:216084813:G:A Identity +NM_206933.4:c.6967C>T NP_996816.3:p.Arg2323Ter NC_000001.11:215965469:G:A p.(Arg2323Ter) NC_000001.11:215965469:G:A p.(Arg2323Ter) NC_000001.11:215965469:G:A Identity +NM_001317924.2:c.3278G>A NP_001304853.1:p.Cys1093Tyr NC_000004.12:39277060:G:A p.(Cys1093Tyr) NC_000004.12:39277060:G:A p.(Cys1093Tyr) NC_000004.12:39277060:G:A Identity +NM_001321560.2:c.5951T>C NP_001308489.1:p.Leu1984Pro NC_000017.11:28616955:A:G p.(Leu1984Pro) NC_000017.11:28616955:A:G p.(Leu1984Pro) NC_000017.11:28616955:A:G Identity +NM_024496.4:c.1254G>C NP_078772.1:p.Lys418Asn NC_000014.9:77026538:C:G p.(Lys418Asn) NC_000014.9:77026538:C:G p.(Lys418Asn) NC_000014.9:77026538:C:G Identity +NM_005654.6:c.289C>G NP_005645.1:p.His97Asp NC_000005.10:93585311:C:G p.(His97Asp) NC_000005.10:93585311:C:G p.(His97Asp) NC_000005.10:93585311:C:G Identity +NM_003079.5:c.276G>C NP_003070.3:p.Lys92Asn NC_000017.11:40636487:C:G p.(Lys92Asn) NC_000017.11:40636487:C:G p.(Lys92Asn) NC_000017.11:40636487:C:G Identity +NM_001362770.2:c.153T>A NP_001349699.1:p.Ser51Arg NC_000020.11:505177:A:T p.(Ser51Arg) NC_000020.11:505177:A:T p.(Ser51Arg) NC_000020.11:505177:A:T Identity +NM_017890.5:c.10847_10849del NP_060360.3:p.Phe3616del NC_000008.11:99854158:CTTCT:CT p.(Phe3616del) NC_000008.11:99854158:CTTCT:CT p.(Phe3616del) NC_000008.11:99854160:TCT: Identity +NM_001142569.3:c.743A>T NP_001136041.1:p.Tyr248Phe NC_000001.11:200908897:A:T p.(Tyr248Phe) NC_000001.11:200908897:A:T p.(Tyr248Phe) NC_000001.11:200908897:A:T Identity +NM_000046.5:c.1032C>G NP_000037.2:p.Asn344Lys NC_000005.10:78885693:G:C p.(Asn344Lys) NC_000005.10:78885693:G:C p.(Asn344Lys) NC_000005.10:78885693:G:C Identity +NM_001007468.3:c.1043C>G NP_001007469.1:p.Thr348Arg NC_000022.11:23833654:C:G p.(Thr348Arg) NC_000022.11:23833654:C:G p.(Thr348Arg) NC_000022.11:23833654:C:G Identity +NM_001353810.2:c.1244C>A NP_001340739.2:p.Thr415Asn NC_000023.11:139789450:G:T p.(Thr415Asn) NC_000023.11:139789450:G:T p.(Thr415Asn) NC_000023.11:139789450:G:T Identity +NM_173483.4:c.592G>T NP_775754.2:p.Asp198Tyr NC_000019.10:15537913:G:T p.(Asp198Tyr) NC_000019.10:15537913:G:T p.(Asp198Tyr) NC_000019.10:15537913:G:T Identity +NM_001142281.2:c.589A>G NP_001135753.1:p.Thr197Ala NC_000011.10:118590374:A:G p.(Thr197Ala) NC_000011.10:118590374:A:G p.(Thr197Ala) NC_000011.10:118590374:A:G Identity +NM_001098796.2:c.540G>T NP_001092266.1:p.Lys180Asn NC_000020.11:44054312:G:T p.(Lys180Asn) NC_000020.11:44054312:G:T p.(Lys180Asn) NC_000020.11:44054312:G:T Identity +NM_173483.4:c.1352G>C NP_775754.2:p.Arg451Pro NC_000019.10:15550689:G:C p.(Arg451Pro) NC_000019.10:15550689:G:C p.(Arg451Pro) NC_000019.10:15550689:G:C Identity +NM_001040428.4:c.19G>T NP_001035518.1:p.Val7Phe NC_000014.9:88385836:G:T p.(Val7Phe) NC_000014.9:88385836:G:T p.(Val7Phe) NC_000014.9:88385836:G:T Identity +NM_001083116.3:c.1385C>A NP_001076585.1:p.Ser462Ter NC_000010.11:70598335:G:T p.(Ser462Ter) NC_000010.11:70598335:G:T p.(Ser462Ter) NC_000010.11:70598335:G:T Identity +NM_000138.5:c.643C>G NP_000129.3:p.Arg215Gly NC_000015.10:48537703:G:C p.(Arg215Gly) NC_000015.10:48537703:G:C p.(Arg215Gly) NC_000015.10:48537703:G:C Identity +LRG_1135t2:c.269C>T LRG_1135p2:p.Ser90Phe NC_000010.11:51153165:C:T ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1135t2, alt_ac=LRG_1135t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1135t2 not found +NM_006767.4:c.311C>T NP_006758.2:p.Ser104Phe NC_000022.11:20985887:C:T p.(Ser104Phe) NC_000022.11:20985887:C:T p.(Ser104Phe) NC_000022.11:20985887:C:T Identity +NM_001271938.2:c.6715C>T NP_001258867.1:p.Arg2239Cys NC_000019.10:42369603:C:T p.(Arg2239Cys) NC_000019.10:42369603:C:T p.(Arg2239Cys) NC_000019.10:42369603:C:T Identity +NM_032119.4:c.4108T>G NP_115495.3:p.Phe1370Val NC_000005.10:90653681:T:G p.(Phe1370Val) NC_000005.10:90653681:T:G p.(Phe1370Val) NC_000005.10:90653681:T:G Identity +NM_001317090.2:c.515C>A NP_001304019.1:p.Ala172Glu NC_000011.10:64297506:C:A p.(Ala172Glu) NC_000011.10:64297506:C:A p.(Ala172Glu) NC_000011.10:64297506:C:A Identity +NM_001301088.2:c.260C>T NP_001288017.1:p.Thr87Met NC_000011.10:124895896:G:A p.(Thr87Met) NC_000011.10:124895896:G:A p.(Thr87Met) NC_000011.10:124895896:G:A Identity +NM_000158.4:c.1680C>A NP_000149.4:p.Tyr560Ter NC_000003.12:81537033:G:T p.(Tyr560Ter) NC_000003.12:81537033:G:T p.(Tyr560Ter) NC_000003.12:81537033:G:T Identity +NM_001042702.5:c.905ACA[1] NP_001036167.1:p.Asn303del NC_000002.12:178461119:ACAACA:ACA p.(Asn303del) NC_000002.12:178461119:A:ACA ERR:Parse ERR:Parse Identity +NM_000307.5:c.478C>T NP_000298.3:p.Gln160Ter NC_000023.11:83508801:C:T p.(Gln160Ter) NC_000023.11:83508801:C:T p.(Gln160Ter) NC_000023.11:83508801:C:T Identity +NM_000283.4:c.583A>T NP_000274.3:p.Lys195Ter NC_000004.12:634790:A:T p.(Lys195Ter) NC_000004.12:634790:A:T p.(Lys195Ter) NC_000004.12:634790:A:T Identity +NM_000328.3:c.423del NP_000319.1:p.Ile142fs NC_000023.11:38318874:C: p.(Ile142LeufsTer14) NC_000023.11:38318874:C: p.(Ile142LeufsTer14) NC_000023.11:38318874:C: Analogous +NM_000297.4:c.1249C>T NP_000288.1:p.Arg417Ter NC_000004.12:88043386:C:T p.(Arg417Ter) NC_000004.12:88043386:C:T p.(Arg417Ter) NC_000004.12:88043386:C:T Identity +NM_006231.4:c.1180C>T NP_006222.2:p.Gln394Ter NC_000012.12:132675443:G:A p.(Gln394Ter) NC_000012.12:132675443:G:A p.(Gln394Ter) NC_000012.12:132675443:G:A Identity +NM_000323.2:c.1609C>T NP_000314.1:p.Pro537Ser NC_000010.11:43112184:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_020629.2:c.602G>C NP_065680.1:p.Ser201Thr NC_000010.11:43102605:G:C ERR:Data provider error: ValueError: Transcript NM_020629.2 not found ERR:Data provider error: ValueError: Transcript NM_020629.2 not found ERR:AlignmentMapper(tx_ac=NM_020629.2, alt_ac=NM_020629.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020629.2, alt_ac=NM_020629.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020629.2 not found +NM_004525.3:c.12590G>C NP_004516.2:p.Gly4197Ala NC_000002.12:169150897:C:G p.(Gly4197Ala) NC_000002.12:169150897:C:G p.(Gly4197Ala) NC_000002.12:169150897:C:G Identity +LRG_344t1:c.457G>A LRG_344p1:p.Asp153Asn NC_000012.12:25209904:C:T ERR:Data provider error: ValueError: Transcript LRG_344t1 not found ERR:Data provider error: ValueError: Transcript LRG_344t1 not found ERR:AlignmentMapper(tx_ac=LRG_344t1, alt_ac=LRG_344t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_344t1, alt_ac=LRG_344t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_344t1 not found +NM_001029835.2:c.647T>G NP_001025006.1:p.Leu216Arg NC_000007.14:45068553:T:G p.(Leu216Arg) NC_000007.14:45068553:T:G p.(Leu216Arg) NC_000007.14:45068553:T:G Identity +NM_000817.3:c.1246A>G NP_000808.2:p.Ile416Val NC_000002.12:170852774:A:G p.(Ile416Val) NC_000002.12:170852774:A:G p.(Ile416Val) NC_000002.12:170852774:A:G Identity +LRG_1372t1:c.233G>A LRG_1372p1:p.Gly78Glu NC_000001.11:155904734:C:T ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found +NM_000890.5:c.864G>T NP_000881.3:p.Glu288Asp NC_000011.10:128912136:G:T p.(Glu288Asp) NC_000011.10:128912136:G:T p.(Glu288Asp) NC_000011.10:128912136:G:T Identity +NM_000296.4:c.9231dup NP_000287.4:p.Met3078fs NC_000016.10:2102226:G:GG p.(Met3078HisfsTer101) NC_000016.10:2102226:G:GG p.(Met3078HisfsTer101) ERR:SPDI Analogous +NM_000296.4:c.11254C>T NP_000287.4:p.Arg3752Trp NC_000016.10:2092491:G:A p.(Arg3752Trp) NC_000016.10:2092491:G:A p.(Arg3752Trp) NC_000016.10:2092491:G:A Identity +NM_024589.3:c.541G>A NP_078865.1:p.Ala181Thr NC_000016.10:4798174:C:T p.(Ala181Thr) NC_000016.10:4798174:C:T p.(Ala181Thr) NC_000016.10:4798174:C:T Identity +NM_024675.4:c.3008dup NP_078951.2:p.Asn1003fs NC_000016.10:23621466:TTTT:TTTTT p.(Asn1003LysfsTer8) NC_000016.10:23621466:TTTT:TTTTT p.(Asn1003LysfsTer8) ERR:SPDI Analogous +NM_001277115.2:c.10276A>G NP_001264044.1:p.Arg3426Gly NC_000007.14:21807992:A:G p.(Arg3426Gly) NC_000007.14:21807992:A:G p.(Arg3426Gly) NC_000007.14:21807992:A:G Identity +NM_001256545.2:c.350G>A NP_001243474.1:p.Arg117His NC_000005.10:127369939:G:A p.(Arg117His) NC_000005.10:127369939:G:A p.(Arg117His) NC_000005.10:127369939:G:A Identity +NM_000548.5:c.3487G>T NP_000539.2:p.Ala1163Ser NC_000016.10:2080253:G:T p.(Ala1163Ser) NC_000016.10:2080253:G:T p.(Ala1163Ser) NC_000016.10:2080253:G:T Identity +NM_001127505.3:c.518C>T NP_001120977.1:p.Thr173Ile NC_000008.11:18062390:G:A p.(Thr173Ile) NC_000008.11:18062390:G:A p.(Thr173Ile) NC_000008.11:18062390:G:A Identity +NM_001362843.2:c.3672C>G NP_001349772.1:p.Cys1224Trp NC_000022.11:41164073:C:G p.(Cys1224Trp) NC_000022.11:41164073:C:G p.(Cys1224Trp) NC_000022.11:41164073:C:G Identity +NM_001244808.3:c.1291_1292del NP_001231737.1:p.Thr431fs NC_000003.12:70977883:GTGTG:GTG p.(Thr431GlyfsTer28) NC_000003.12:70977883:GTGTG:GTG p.(Thr431GlyfsTer28) NC_000003.12:70977883:GT: Analogous +NM_000551.4:c.331A>T NP_000542.1:p.Ser111Cys NC_000003.12:10142177:A:T p.(Ser111Cys) NC_000003.12:10142177:A:T p.(Ser111Cys) NC_000003.12:10142177:A:T Identity +NM_001206927.2:c.6721A>G NP_001193856.1:p.Ile2241Val NC_000006.12:38868088:A:G p.(Ile2241Val) NC_000006.12:38868088:A:G p.(Ile2241Val) NC_000006.12:38868088:A:G Identity +NM_001135041.3:c.44G>A NP_001128513.1:p.Arg15Gln NC_000002.12:74372934:C:T p.(Arg15Gln) NC_000002.12:74372934:C:T p.(Arg15Gln) NC_000002.12:74372934:C:T Identity +NM_001321135.2:c.1087G>C NP_001308064.1:p.Ala363Pro NC_000015.10:77037068:G:C p.(Ala363Pro) NC_000015.10:77037068:G:C p.(Ala363Pro) NC_000015.10:77037068:G:C Identity +NM_006767.4:c.1700G>C NP_006758.2:p.Arg567Pro NC_000022.11:20994641:G:C p.(Arg567Pro) NC_000022.11:20994641:G:C p.(Arg567Pro) NC_000022.11:20994641:G:C Identity +NM_052859.4:c.412C>A NP_443091.1:p.Pro138Thr NC_000003.12:53122417:G:T p.(Pro138Thr) NC_000003.12:53122417:G:T p.(Pro138Thr) NC_000003.12:53122417:G:T Identity +NM_001127487.2:c.3092C>A NP_001120959.1:p.Pro1031Gln NC_000007.14:128844165:C:A p.(Pro1031Gln) NC_000007.14:128844165:C:A p.(Pro1031Gln) NC_000007.14:128844165:C:A Identity +NM_001036.6:c.9877C>T NP_001027.3:p.Arg3293Cys NC_000015.10:33800815:C:T p.(Arg3293Cys) NC_000015.10:33800815:C:T p.(Arg3293Cys) NC_000015.10:33800815:C:T Identity +LRG_533t1:c.647del LRG_533p1:p.Pro216fs NC_000011.10:2884842:GGGG:GGG ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_006593.4:c.1621G>A NP_006584.1:p.Asp541Asn NC_000002.12:161423798:G:A p.(Asp541Asn) NC_000002.12:161423798:G:A p.(Asp541Asn) NC_000002.12:161423798:G:A Identity +NM_003482.4:c.12568A>T NP_003473.3:p.Ile4190Phe NC_000012.12:49032136:T:A p.(Ile4190Phe) NC_000012.12:49032136:T:A p.(Ile4190Phe) NC_000012.12:49032136:T:A Identity +NM_000260.4:c.2339del NP_000251.3:p.Gly780fs NC_000011.10:77179097:GGGG:GGG p.(Gly780ValfsTer10) NC_000011.10:77179097:GGGG:GGG p.(Gly780ValfsTer10) NC_000011.10:77179100:G: Analogous +NM_000296.4:c.384del NP_000287.4:p.Glu128fs NC_000016.10:2118820:C: p.(Glu128AspfsTer162) NC_000016.10:2118820:C: p.(Glu128AspfsTer162) NC_000016.10:2118820:C: Analogous +NM_213606.4:c.662del NP_998771.3:p.Gly221fs NC_000010.11:89438969:CC:C p.(Gly221ValfsTer3) NC_000010.11:89438969:CC:C p.(Gly221ValfsTer3) NC_000010.11:89438969:C: Analogous +NM_000296.4:c.5824del NP_000287.4:p.Arg1942fs NC_000016.10:2109342:GGGGG:GGGG p.(Arg1942AlafsTer7) NC_000016.10:2109342:GGGGG:GGGG p.(Arg1942AlafsTer7) NC_000016.10:2109342:G: Analogous +NM_000038.6:c.3270A>C NP_000029.2:p.Gln1090His NC_000005.10:112838863:A:C p.(Gln1090His) NC_000005.10:112838863:A:C p.(Gln1090His) NC_000005.10:112838863:A:C Identity +NM_005732.4:c.1291G>A NP_005723.2:p.Glu431Lys NC_000005.10:132589675:G:A p.(Glu431Lys) NC_000005.10:132589675:G:A p.(Glu431Lys) NC_000005.10:132589675:G:A Identity +NM_000319.5:c.1612C>T NP_000310.2:p.Arg538Cys NC_000012.12:7209757:C:T p.(Arg538Cys) NC_000012.12:7209757:C:T p.(Arg538Cys) NC_000012.12:7209757:C:T Identity +NM_024675.4:c.994C>T NP_078951.2:p.Leu332Phe NC_000016.10:23635551:G:A p.(Leu332Phe) NC_000016.10:23635551:G:A p.(Leu332Phe) NC_000016.10:23635551:G:A Identity +NM_000546.6:c.815T>C NP_000537.3:p.Val272Ala NC_000017.11:7673804:A:G p.(Val272Ala) NC_000017.11:7673804:A:G p.(Val272Ala) NC_000017.11:7673804:A:G Identity +NM_004621.6:c.434A>G NP_004612.2:p.His145Arg NC_000011.10:101504534:T:C p.(His145Arg) NC_000011.10:101504534:T:C p.(His145Arg) NC_000011.10:101504534:T:C Identity +NM_000109.4:c.117dup NP_000100.3:p.Arg40fs NC_000023.11:32849772:CCC:CCCC p.(Arg40GlufsTer41) NC_000023.11:32849772:CCC:CCCC p.(Arg40GlufsTer41) ERR:SPDI Analogous +NM_000495.5:c.698G>C NP_000486.1:p.Gly233Ala NC_000023.11:108578300:G:C p.(Gly233Ala) NC_000023.11:108578300:G:C p.(Gly233Ala) NC_000023.11:108578300:G:C Identity +NM_000091.5:c.88G>C NP_000082.2:p.Gly30Arg NC_000002.12:227237967:G:C p.(Gly30Arg) NC_000002.12:227237967:G:C p.(Gly30Arg) NC_000002.12:227237967:G:C Identity +NM_001083908.2:c.386G>A NP_001077377.1:p.Arg129His NC_000014.9:49634763:C:T p.(Arg129His) NC_000014.9:49634763:C:T p.(Arg129His) NC_000014.9:49634763:C:T Identity +NM_001281303.2:c.910A>G NP_001268232.1:p.Ser304Gly NC_000009.12:92047686:T:C p.(Ser304Gly) NC_000009.12:92047686:T:C p.(Ser304Gly) NC_000009.12:92047686:T:C Identity +NM_001024688.3:c.1370C>G NP_001019859.1:p.Ser457Cys NC_000008.11:89953472:G:C p.(Ser457Cys) NC_000008.11:89953472:G:C p.(Ser457Cys) NC_000008.11:89953472:G:C Identity +NM_001127698.2:c.3029A>G NP_001121170.1:p.Asp1010Gly NC_000005.10:148127053:A:G p.(Asp1010Gly) NC_000005.10:148127053:A:G p.(Asp1010Gly) NC_000005.10:148127053:A:G Identity +NM_001354899.2:c.5877C>G NP_001341828.1:p.Ile1959Met NC_000005.10:112841554:C:G p.(Ile1959Met) NC_000005.10:112841554:C:G p.(Ile1959Met) NC_000005.10:112841554:C:G Identity +LRG_1332t1:c.4336G>A LRG_1332p1:p.Gly1446Ser NC_000016.10:69694160:G:A ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found +LRG_518t2:c.329G>A LRG_518p2:p.Ser110Asn NC_000010.11:43100713:G:A ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_518t2 not found +NM_001172810.3:c.546C>A NP_001166281.1:p.Tyr182Ter NC_000017.11:74289671:C:A p.(Tyr182Ter) NC_000017.11:74289671:C:A p.(Tyr182Ter) NC_000017.11:74289671:C:A Identity +NM_001376.5:c.9565G>A NP_001367.2:p.Glu3189Lys NC_000014.9:102029634:G:A p.(Glu3189Lys) NC_000014.9:102029634:G:A p.(Glu3189Lys) NC_000014.9:102029634:G:A Identity +NM_000548.5:c.1231G>T NP_000539.2:p.Val411Leu NC_000016.10:2061981:G:T p.(Val411Leu) NC_000016.10:2061981:G:T p.(Val411Leu) NC_000016.10:2061981:G:T Identity +NM_001256850.1:c.59504_59505dup NP_001243779.1:p.Thr19836Ter NC_000002.12:178585315:TAT:TATAT p.(Thr19836Ter) NC_000002.12:178585315:TAT:TATAT p.(Thr19836Ter) ERR:SPDI Identity +NM_001272073.2:c.1549C>T NP_001259002.1:p.Pro517Ser NC_000003.12:49099375:G:A p.(Pro517Ser) NC_000003.12:49099375:G:A p.(Pro517Ser) NC_000003.12:49099375:G:A Identity +NM_001201484.2:c.942G>T NP_001188413.1:p.Glu314Asp NC_000009.12:35093206:C:A p.(Glu314Asp) NC_000009.12:35093206:C:A p.(Glu314Asp) NC_000009.12:35093206:C:A Identity +NM_001257374.3:c.1654A>T NP_001244303.1:p.Ile552Leu NC_000001.11:156139100:A:T p.(Ile552Leu) NC_000001.11:156139100:A:T p.(Ile552Leu) NC_000001.11:156139100:A:T Identity +NM_001291415.2:c.3919C>T NP_001278344.1:p.Arg1307Trp NC_000023.11:45090748:C:T p.(Arg1307Trp) NC_000023.11:45090748:C:T p.(Arg1307Trp) NC_000023.11:45090748:C:T Identity +NM_015295.3:c.4078A>G NP_056110.2:p.Met1360Val NC_000018.10:2750419:A:G p.(Met1360Val) NC_000018.10:2750419:A:G p.(Met1360Val) NC_000018.10:2750419:A:G Identity +NM_000245.4:c.2747C>T NP_000236.2:p.Ser916Phe NC_000007.14:116771513:C:T p.(Ser916Phe) NC_000007.14:116771513:C:T p.(Ser916Phe) NC_000007.14:116771513:C:T Identity +NM_001277961.3:c.1919C>T NP_001264890.1:p.Ala640Val NC_000011.10:4091340:C:T p.(Ala640Val) NC_000011.10:4091340:C:T p.(Ala640Val) NC_000011.10:4091340:C:T Identity +NM_005732.4:c.1368G>C NP_005723.2:p.Glu456Asp NC_000005.10:132589752:G:C p.(Glu456Asp) NC_000005.10:132589752:G:C p.(Glu456Asp) NC_000005.10:132589752:G:C Identity +NM_000251.3:c.2606C>T NP_000242.1:p.Ala869Val NC_000002.12:47480842:C:T p.(Ala869Val) NC_000002.12:47480842:C:T p.(Ala869Val) NC_000002.12:47480842:C:T Identity +NM_001308093.3:c.794C>G NP_001295022.1:p.Ser265Cys NC_000008.11:11750117:C:G p.(Ser265Cys) NC_000008.11:11750117:C:G p.(Ser265Cys) NC_000008.11:11750117:C:G Identity +NM_001605.3:c.176C>A NP_001596.2:p.Pro59Gln NC_000016.10:70277122:G:T p.(Pro59Gln) NC_000016.10:70277122:G:T p.(Pro59Gln) NC_000016.10:70277122:G:T Identity +NM_000264.5:c.3011T>G NP_000255.2:p.Leu1004Arg NC_000009.12:95458169:A:C p.(Leu1004Arg) NC_000009.12:95458169:A:C p.(Leu1004Arg) NC_000009.12:95458169:A:C Identity +NM_004260.4:c.2335G>A NP_004251.4:p.Asp779Asn NC_000008.11:144513345:C:T p.(Asp779Asn) NC_000008.11:144513345:C:T p.(Asp779Asn) NC_000008.11:144513345:C:T Identity +NM_001308093.3:c.1087C>T NP_001295022.1:p.Arg363Cys NC_000008.11:11757020:C:T p.(Arg363Cys) NC_000008.11:11757020:C:T p.(Arg363Cys) NC_000008.11:11757020:C:T Identity +NM_001305005.3:c.35T>C NP_001291934.1:p.Ile12Thr NC_000002.12:107988189:T:C p.(Ile12Thr) NC_000002.12:107988189:T:C p.(Ile12Thr) NC_000002.12:107988189:T:C Identity +NM_001036.6:c.10568C>T NP_001027.3:p.Ser3523Phe NC_000015.10:33816926:C:T p.(Ser3523Phe) NC_000015.10:33816926:C:T p.(Ser3523Phe) NC_000015.10:33816926:C:T Identity +NM_001277126.2:c.3112A>G NP_001264055.1:p.Met1038Val NC_000019.10:53794125:T:C p.(Met1038Val) NC_000019.10:53794125:T:C p.(Met1038Val) NC_000019.10:53794125:T:C Identity +NM_001135599.4:c.929T>C NP_001129071.1:p.Leu310Pro NC_000001.11:218436059:T:C p.(Leu310Pro) NC_000001.11:218436059:T:C p.(Leu310Pro) NC_000001.11:218436059:T:C Identity +NM_005359.6:c.427C>T NP_005350.1:p.Leu143Phe NC_000018.10:51049296:C:T p.(Leu143Phe) NC_000018.10:51049296:C:T p.(Leu143Phe) NC_000018.10:51049296:C:T Identity +NM_004370.6:c.4676T>C NP_004361.3:p.Val1559Ala NC_000006.12:75145339:A:G p.(Val1559Ala) NC_000006.12:75145339:A:G p.(Val1559Ala) NC_000006.12:75145339:A:G Identity +NM_001272073.2:c.1964G>T NP_001259002.1:p.Arg655Ile NC_000003.12:49098439:C:A p.(Arg655Ile) NC_000003.12:49098439:C:A p.(Arg655Ile) NC_000003.12:49098439:C:A Identity +NM_001110556.2:c.7210G>A NP_001104026.1:p.Val2404Ile NC_000023.11:154350153:C:T p.(Val2404Ile) NC_000023.11:154350153:C:T p.(Val2404Ile) NC_000023.11:154350153:C:T Identity +NM_001165963.4:c.5495_5496insT NP_001159435.1:p.Ala1833fs NC_000002.12:165991779::A p.(Ala1833SerfsTer4) NC_000002.12:165991778:T:A p.(Ala1833SerfsTer4) NC_000002.12:165991779:TG:A Analogous +NM_000388.4:c.1888G>C NP_000379.3:p.Val630Leu NC_000003.12:122283841:G:C p.(Val630Leu) NC_000003.12:122283841:G:C p.(Val630Leu) NC_000003.12:122283841:G:C Identity +NM_001079802.2:c.22G>A NP_001073270.1:p.Val8Met NC_000009.12:105575053:G:A p.(Val8Met) NC_000009.12:105575053:G:A p.(Val8Met) NC_000009.12:105575053:G:A Identity +NM_024577.4:c.2418T>G NP_078853.2:p.Tyr806Ter NC_000005.10:149027313:A:C p.(Tyr806Ter) NC_000005.10:149027313:A:C p.(Tyr806Ter) NC_000005.10:149027313:A:C Identity +NM_005732.4:c.1145G>C NP_005723.2:p.Gly382Ala NC_000005.10:132588779:G:C p.(Gly382Ala) NC_000005.10:132588779:G:C p.(Gly382Ala) NC_000005.10:132588779:G:C Identity +NM_001349253.2:c.887C>T NP_001336182.1:p.Ala296Val NC_000003.12:38921080:G:A p.(Ala296Val) NC_000003.12:38921080:G:A p.(Ala296Val) NC_000003.12:38921080:G:A Identity +NM_001330343.2:c.503G>C NP_001317272.1:p.Arg168Pro NC_000012.12:8604816:C:G p.(Arg168Pro) NC_000012.12:8604816:C:G p.(Arg168Pro) NC_000012.12:8604816:C:G Identity +NM_006231.4:c.2051A>G NP_006222.2:p.His684Arg NC_000012.12:132668477:T:C p.(His684Arg) NC_000012.12:132668477:T:C p.(His684Arg) NC_000012.12:132668477:T:C Identity +NM_006231.4:c.824A>G NP_006222.2:p.Asp275Gly NC_000012.12:132676630:T:C p.(Asp275Gly) NC_000012.12:132676630:T:C p.(Asp275Gly) NC_000012.12:132676630:T:C Identity +NM_000083.3:c.2518_2519del NP_000074.3:p.Leu840fs NC_000007.14:143350576:CT: p.(Leu840ValfsTer31) NC_000007.14:143350576:CT: p.(Leu840ValfsTer31) NC_000007.14:143350576:CT: Analogous +LRG_386t1:c.1422del LRG_386p1:p.Glu474fs NC_000011.10:47342864:C: ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_000093.5:c.1075G>A NP_000084.3:p.Glu359Lys NC_000009.12:134730385:G:A p.(Glu359Lys) NC_000009.12:134730385:G:A p.(Glu359Lys) NC_000009.12:134730385:G:A Identity +NM_000033.4:c.146_159del NP_000024.2:p.Pro49fs NC_000023.11:153725410:CCCGCCGGGGAGCCC:C p.(Pro49HisfsTer141) NC_000023.11:153725410:CCCGCCGGGGAGCCC:C p.(Pro49HisfsTer141) NC_000023.11:153725411:CCGCCGGGGAGCCC: Analogous +NM_000069.3:c.3406G>A NP_000060.2:p.Gly1136Ser NC_000001.11:201060665:C:T p.(Gly1136Ser) NC_000001.11:201060665:C:T p.(Gly1136Ser) NC_000001.11:201060665:C:T Identity +NM_000069.3:c.4984A>T NP_000060.2:p.Asn1662Tyr NC_000001.11:201043344:T:A p.(Asn1662Tyr) NC_000001.11:201043344:T:A p.(Asn1662Tyr) NC_000001.11:201043344:T:A Identity +NM_002234.4:c.106T>A NP_002225.2:p.Cys36Ser NC_000012.12:5044252:T:A p.(Cys36Ser) NC_000012.12:5044252:T:A p.(Cys36Ser) NC_000012.12:5044252:T:A Identity +NM_001024688.3:c.730C>G NP_001019859.1:p.Gln244Glu NC_000008.11:89964427:G:C p.(Gln244Glu) NC_000008.11:89964427:G:C p.(Gln244Glu) NC_000008.11:89964427:G:C Identity +NM_001005407.2:c.2387G>A NP_001005407.1:p.Ser796Asn NC_000016.10:1204393:G:A p.(Ser796Asn) NC_000016.10:1204393:G:A p.(Ser796Asn) NC_000016.10:1204393:G:A Identity +NM_000147.5:c.209C>T NP_000138.2:p.Pro70Leu NC_000001.11:23868077:G:A p.(Pro70Leu) NC_000001.11:23868077:G:A p.(Pro70Leu) NC_000001.11:23868077:G:A Identity +NM_001277961.3:c.2072C>T NP_001264890.1:p.Ala691Val NC_000011.10:4091493:C:T p.(Ala691Val) NC_000011.10:4091493:C:T p.(Ala691Val) NC_000011.10:4091493:C:T Identity +NM_004304.5:c.89G>A NP_004295.2:p.Gly30Asp NC_000002.12:29920570:C:T p.(Gly30Asp) NC_000002.12:29920570:C:T p.(Gly30Asp) NC_000002.12:29920570:C:T Identity +NM_000057.4:c.1319A>G NP_000048.1:p.Glu440Gly NC_000015.10:90760691:A:G p.(Glu440Gly) NC_000015.10:90760691:A:G p.(Glu440Gly) NC_000015.10:90760691:A:G Identity +NM_138459.5:c.198_199delinsAT NP_612468.1:p.Arg67Cys NC_000006.12:117675867:CC:AT p.(Arg67Cys) NC_000006.12:117675867:CC:AT p.(Arg67Cys) NC_000006.12:117675867:CC:AT Identity +NM_014467.3:c.1238G>A NP_055282.1:p.Arg413His NC_000023.11:100670826:G:A p.(Arg413His) NC_000023.11:100670826:G:A p.(Arg413His) NC_000023.11:100670826:G:A Identity +NM_004415.4:c.4396A>G NP_004406.2:p.Lys1466Glu NC_000006.12:7580585:A:G p.(Lys1466Glu) NC_000006.12:7580585:A:G p.(Lys1466Glu) NC_000006.12:7580585:A:G Identity +NM_000548.5:c.3812C>T NP_000539.2:p.Thr1271Ile NC_000016.10:2081795:C:T p.(Thr1271Ile) NC_000016.10:2081795:C:T p.(Thr1271Ile) NC_000016.10:2081795:C:T Identity +NM_001271999.2:c.2560C>T NP_001258928.1:p.Arg854Cys NC_000001.11:62555860:G:A p.(Arg854Cys) NC_000001.11:62555860:G:A p.(Arg854Cys) NC_000001.11:62555860:G:A Identity +NM_000222.3:c.1612A>G NP_000213.1:p.Ile538Val NC_000004.12:54727288:A:G p.(Ile538Val) NC_000004.12:54727288:A:G p.(Ile538Val) NC_000004.12:54727288:A:G Identity +NM_000321.3:c.83C>T NP_000312.2:p.Pro28Leu NC_000013.11:48303994:C:T p.(Pro28Leu) NC_000013.11:48303994:C:T p.(Pro28Leu) NC_000013.11:48303994:C:T Identity +NM_000051.4:c.4028T>C NP_000042.3:p.Ile1343Thr NC_000011.10:108287633:T:C p.(Ile1343Thr) NC_000011.10:108287633:T:C p.(Ile1343Thr) NC_000011.10:108287633:T:C Identity +NM_001040142.2:c.2508G>A NP_001035232.1:p.Met836Ile NC_000002.12:165342414:G:A p.(Met836Ile) NC_000002.12:165342414:G:A p.(Met836Ile) NC_000002.12:165342414:G:A Identity +NM_004304.5:c.830C>T NP_004295.2:p.Ser277Phe NC_000002.12:29694971:G:A p.(Ser277Phe) NC_000002.12:29694971:G:A p.(Ser277Phe) NC_000002.12:29694971:G:A Identity +NM_000238.4:c.443G>A NP_000229.1:p.Arg148Gln NC_000007.14:150959600:C:T p.(Arg148Gln) NC_000007.14:150959600:C:T p.(Arg148Gln) NC_000007.14:150959600:C:T Identity +NM_000038.6:c.2914G>A NP_000029.2:p.Gly972Ser NC_000005.10:112838507:G:A p.(Gly972Ser) NC_000005.10:112838507:G:A p.(Gly972Ser) NC_000005.10:112838507:G:A Identity +NM_000321.3:c.155C>T NP_000312.2:p.Thr52Ile NC_000013.11:48307296:C:T p.(Thr52Ile) NC_000013.11:48307296:C:T p.(Thr52Ile) NC_000013.11:48307296:C:T Identity +NM_000548.5:c.3964G>A NP_000539.2:p.Ala1322Thr NC_000016.10:2083774:G:A p.(Ala1322Thr) NC_000016.10:2083774:G:A p.(Ala1322Thr) NC_000016.10:2083774:G:A Identity +NM_005732.4:c.3740A>G NP_005723.2:p.His1247Arg NC_000005.10:132640792:A:G p.(His1247Arg) NC_000005.10:132640792:A:G p.(His1247Arg) NC_000005.10:132640792:A:G Identity +NM_000433.4:c.1321G>A NP_000424.2:p.Glu441Lys NC_000001.11:183560242:C:T p.(Glu441Lys) NC_000001.11:183560242:C:T p.(Glu441Lys) NC_000001.11:183560242:C:T Identity +NM_001036.6:c.4483A>T NP_001027.3:p.Ile1495Phe NC_000015.10:33660283:A:T p.(Ile1495Phe) NC_000015.10:33660283:A:T p.(Ile1495Phe) NC_000015.10:33660283:A:T Identity +NM_001141973.3:c.863T>C NP_001135445.1:p.Met288Thr NC_000001.11:17000274:A:G p.(Met288Thr) NC_000001.11:17000274:A:G p.(Met288Thr) NC_000001.11:17000274:A:G Identity +NM_006231.4:c.5423del NP_006222.2:p.Gln1808fs NC_000012.12:132639253:T: p.(Gln1808ArgfsTer11) NC_000012.12:132639253:T: p.(Gln1808ArgfsTer11) NC_000012.12:132639253:T: Analogous +NM_001347827.2:c.502G>C NP_001334756.1:p.Val168Leu NC_000004.12:54263800:G:C p.(Val168Leu) NC_000004.12:54263800:G:C p.(Val168Leu) NC_000004.12:54263800:G:C Identity +NM_001127487.2:c.479C>T NP_001120959.1:p.Thr160Met NC_000007.14:128835451:C:T p.(Thr160Met) NC_000007.14:128835451:C:T p.(Thr160Met) NC_000007.14:128835451:C:T Identity +LRG_1122t1:c.1682C>T LRG_1122p1:p.Thr561Met NC_000009.12:136515703:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001127487.2:c.7921G>A NP_001120959.1:p.Gly2641Ser NC_000007.14:128858364:G:A p.(Gly2641Ser) NC_000007.14:128858364:G:A p.(Gly2641Ser) NC_000007.14:128858364:G:A Identity +NM_001172567.2:c.499T>C NP_001166038.2:p.Tyr167His NC_000003.12:38140422:T:C p.(Tyr167His) NC_000003.12:38140422:T:C p.(Tyr167His) NC_000003.12:38140422:T:C Identity +NM_005732.4:c.3410G>T NP_005723.2:p.Ser1137Ile NC_000005.10:132637134:G:T p.(Ser1137Ile) NC_000005.10:132637134:G:T p.(Ser1137Ile) NC_000005.10:132637134:G:T Identity +NM_001286075.2:c.1834GAC[1] NP_001273004.1:p.Asp613del NC_000016.10:28901970:GACGAC:GAC p.(Asp613del) NC_000016.10:28901970:G:GAC ERR:Parse ERR:Parse Identity +NM_000432.4:c.203A>G NP_000423.2:p.Glu68Gly NC_000012.12:110914256:T:C p.(Glu68Gly) NC_000012.12:110914256:T:C p.(Glu68Gly) NC_000012.12:110914256:T:C Identity +NM_000089.4:c.2527G>A NP_000080.2:p.Ala843Thr NC_000007.14:94423079:G:A p.(Ala843Thr) NC_000007.14:94423079:G:A p.(Ala843Thr) NC_000007.14:94423079:G:A Identity +NM_000466.3:c.3832C>A NP_000457.1:p.Gln1278Lys NC_000007.14:92487476:G:T p.(Gln1278Lys) NC_000007.14:92487476:G:T p.(Gln1278Lys) NC_000007.14:92487476:G:T Identity +NM_138459.5:c.790G>A NP_612468.1:p.Val264Ile NC_000006.12:117703702:G:A p.(Val264Ile) NC_000006.12:117703702:G:A p.(Val264Ile) NC_000006.12:117703702:G:A Identity +NM_001378454.1:c.9325C>G NP_001365383.1:p.Gln3109Glu NC_000002.12:73491283:C:G p.(Gln3109Glu) NC_000002.12:73491283:C:G p.(Gln3109Glu) NC_000002.12:73491283:C:G Identity +NM_001271684.2:c.40G>A NP_001258613.1:p.Val14Ile NC_000001.11:99993593:G:A p.(Val14Ile) NC_000001.11:99993593:G:A p.(Val14Ile) NC_000001.11:99993593:G:A Identity +NM_001172631.3:c.2491G>T NP_001166102.1:p.Gly831Cys NC_000014.9:102438117:G:T p.(Gly831Cys) NC_000014.9:102438117:G:T p.(Gly831Cys) NC_000014.9:102438117:G:T Identity +NM_001127198.5:c.1219C>T NP_001120670.1:p.Arg407Trp NC_000017.11:78122612:G:A p.(Arg407Trp) NC_000017.11:78122612:G:A p.(Arg407Trp) NC_000017.11:78122612:G:A Identity +NM_005732.4:c.852A>C NP_005723.2:p.Lys284Asn NC_000005.10:132587656:A:C p.(Lys284Asn) NC_000005.10:132587656:A:C p.(Lys284Asn) NC_000005.10:132587656:A:C Identity +NM_001160302.2:c.2171A>G NP_001153774.1:p.Tyr724Cys NC_000021.9:32665045:T:C p.(Tyr724Cys) NC_000021.9:32665045:T:C p.(Tyr724Cys) NC_000021.9:32665045:T:C Identity +NM_000489.6:c.3349A>G NP_000480.3:p.Met1117Val NC_000023.11:77681906:T:C p.(Met1117Val) NC_000023.11:77681906:T:C p.(Met1117Val) NC_000023.11:77681906:T:C Identity +NM_004656.4:c.1669A>G NP_004647.1:p.Ile557Val NC_000003.12:52403475:T:C p.(Ile557Val) NC_000003.12:52403475:T:C p.(Ile557Val) NC_000003.12:52403475:T:C Identity +NM_080605.4:c.655G>A NP_542172.2:p.Val219Met NC_000001.11:1232932:G:A p.(Val219Met) NC_000001.11:1232932:G:A p.(Val219Met) NC_000001.11:1232932:G:A Identity +NM_001277115.2:c.1084G>C NP_001264044.1:p.Ala362Pro NC_000007.14:21564286:G:C p.(Ala362Pro) NC_000007.14:21564286:G:C p.(Ala362Pro) NC_000007.14:21564286:G:C Identity +NM_002661.5:c.3109G>A NP_002652.2:p.Val1037Ile NC_000016.10:81937813:G:A p.(Val1037Ile) NC_000016.10:81937813:G:A p.(Val1037Ile) NC_000016.10:81937813:G:A Identity +NM_001100112.2:c.4010A>G NP_001093582.1:p.His1337Arg NC_000017.11:10526775:T:C p.(His1337Arg) NC_000017.11:10526775:T:C p.(His1337Arg) NC_000017.11:10526775:T:C Identity +NM_001251987.2:c.127A>G NP_001238916.1:p.Thr43Ala NC_000006.12:123571027:T:C p.(Thr43Ala) NC_000006.12:123571027:T:C p.(Thr43Ala) NC_000006.12:123571027:T:C Identity +NM_001605.3:c.1334G>T NP_001596.2:p.Arg445Met NC_000016.10:70265550:C:A p.(Arg445Met) NC_000016.10:70265550:C:A p.(Arg445Met) NC_000016.10:70265550:C:A Identity +NM_000312.4:c.962C>T NP_000303.1:p.Pro321Leu NC_000002.12:127428521:C:T p.(Pro321Leu) NC_000002.12:127428521:C:T p.(Pro321Leu) NC_000002.12:127428521:C:T Identity +NM_000074.3:c.773T>C NP_000065.1:p.Leu258Ser NC_000023.11:136659401:T:C p.(Leu258Ser) NC_000023.11:136659401:T:C p.(Leu258Ser) NC_000023.11:136659401:T:C Identity +NM_002661.5:c.1923C>G NP_002652.2:p.His641Gln NC_000016.10:81910708:C:G p.(His641Gln) NC_000016.10:81910708:C:G p.(His641Gln) NC_000016.10:81910708:C:G Identity +NM_000335.5:c.433T>C NP_000326.2:p.Cys145Arg NC_000003.12:38622448:A:G p.(Cys145Arg) NC_000003.12:38622448:A:G p.(Cys145Arg) NC_000003.12:38622448:A:G Identity +NM_001347827.2:c.1793T>C NP_001334756.1:p.Val598Ala NC_000004.12:54277393:T:C p.(Val598Ala) NC_000004.12:54277393:T:C p.(Val598Ala) NC_000004.12:54277393:T:C Identity +NM_000057.4:c.2360A>G NP_000048.1:p.Lys787Arg NC_000015.10:90769184:A:G p.(Lys787Arg) NC_000015.10:90769184:A:G p.(Lys787Arg) NC_000015.10:90769184:A:G Identity +NM_000302.4:c.1864C>T NP_000293.2:p.Pro622Ser NC_000001.11:11970777:C:T p.(Pro622Ser) NC_000001.11:11970777:C:T p.(Pro622Ser) NC_000001.11:11970777:C:T Identity +NM_001005407.2:c.2183A>G NP_001005407.1:p.Tyr728Cys NC_000016.10:1204189:A:G p.(Tyr728Cys) NC_000016.10:1204189:A:G p.(Tyr728Cys) NC_000016.10:1204189:A:G Identity +NM_001347827.2:c.1199A>G NP_001334756.1:p.Asp400Gly NC_000004.12:54270709:A:G p.(Asp400Gly) NC_000004.12:54270709:A:G p.(Asp400Gly) NC_000004.12:54270709:A:G Identity +NM_001256849.1:c.1907A>G NP_001243778.1:p.Gln636Arg NC_000019.10:50409135:A:G p.(Gln636Arg) NC_000019.10:50409135:A:G p.(Gln636Arg) NC_000019.10:50409135:A:G Identity +LRG_1319t1:c.80C>T LRG_1319p1:p.Thr27Met NC_000001.11:1214047:G:A ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found +NM_006231.4:c.5420C>G NP_006222.2:p.Thr1807Ser NC_000012.12:132639256:G:C p.(Thr1807Ser) NC_000012.12:132639256:G:C p.(Thr1807Ser) NC_000012.12:132639256:G:C Identity +NM_001080522.2:c.3154G>A NP_001073991.2:p.Asp1052Asn NC_000004.12:15563493:G:A p.(Asp1052Asn) NC_000004.12:15563493:G:A p.(Asp1052Asn) NC_000004.12:15563493:G:A Identity +NM_015459.5:c.16C>T NP_056274.3:p.Arg6Ter NC_000011.10:63671319:G:A p.(Arg6Ter) NC_000011.10:63671319:G:A p.(Arg6Ter) NC_000011.10:63671319:G:A Identity +NM_000109.4:c.8918T>C NP_000100.3:p.Leu2973Pro NC_000023.11:31444622:A:G p.(Leu2973Pro) NC_000023.11:31444622:A:G p.(Leu2973Pro) NC_000023.11:31444622:A:G Identity +NM_001023570.4:c.1504C>T NP_001018864.2:p.Arg502Ter NC_000003.12:121772619:G:A p.(Arg502Ter) NC_000003.12:121772619:G:A p.(Arg502Ter) NC_000003.12:121772619:G:A Identity +NM_005751.5:c.1264A>C NP_005742.4:p.Met422Leu NC_000007.14:92001180:A:C p.(Met422Leu) NC_000007.14:92001180:A:C p.(Met422Leu) NC_000007.14:92001180:A:C Identity +NM_000077.5:c.37G>T NP_000068.1:p.Ala13Ser NC_000009.12:21974790:C:A p.(Ala13Ser) NC_000009.12:21974790:C:A p.(Ala13Ser) NC_000009.12:21974790:C:A Identity +NM_000832.7:c.510C>A NP_000823.4:p.Asp170Glu NC_000009.12:137145841:C:A p.(Asp170Glu) NC_000009.12:137145841:C:A p.(Asp170Glu) NC_000009.12:137145841:C:A Identity +NM_000182.5:c.1196G>A NP_000173.2:p.Arg399Gln NC_000002.12:26204085:C:T p.(Arg399Gln) NC_000002.12:26204085:C:T p.(Arg399Gln) NC_000002.12:26204085:C:T Identity +NM_000179.3:c.1772C>A NP_000170.1:p.Pro591Gln NC_000002.12:47799754:C:A p.(Pro591Gln) NC_000002.12:47799754:C:A p.(Pro591Gln) NC_000002.12:47799754:C:A Identity +NM_001164281.3:c.767C>G NP_001157753.1:p.Ser256Cys NC_000006.12:111591319:G:C p.(Ser256Cys) NC_000006.12:111591319:G:C p.(Ser256Cys) NC_000006.12:111591319:G:C Identity +NM_001723.7:c.6289A>G NP_001714.1:p.Thr2097Ala NC_000006.12:56617177:T:C p.(Thr2097Ala) NC_000006.12:56617177:T:C p.(Thr2097Ala) NC_000006.12:56617177:T:C Identity +NM_001256849.1:c.2048G>A NP_001243778.1:p.Arg683His NC_000019.10:50409559:G:A p.(Arg683His) NC_000019.10:50409559:G:A p.(Arg683His) NC_000019.10:50409559:G:A Identity +NM_000138.5:c.671G>A NP_000129.3:p.Cys224Tyr NC_000015.10:48537675:C:T p.(Cys224Tyr) NC_000015.10:48537675:C:T p.(Cys224Tyr) NC_000015.10:48537675:C:T Identity +LRG_402t1:c.2899C>T LRG_402p1:p.Pro967Ser NC_000001.11:237530502:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001378454.1:c.3980C>T NP_001365383.1:p.Pro1327Leu NC_000002.12:73450506:C:T p.(Pro1327Leu) NC_000002.12:73450506:C:T p.(Pro1327Leu) NC_000002.12:73450506:C:T Identity +NM_000548.5:c.3005C>T NP_000539.2:p.Ser1002Phe NC_000016.10:2079069:C:T p.(Ser1002Phe) NC_000016.10:2079069:C:T p.(Ser1002Phe) NC_000016.10:2079069:C:T Identity +NM_000548.5:c.3337G>A NP_000539.2:p.Glu1113Lys NC_000016.10:2079608:G:A p.(Glu1113Lys) NC_000016.10:2079608:G:A p.(Glu1113Lys) NC_000016.10:2079608:G:A Identity +NM_000038.6:c.8372_8374del NP_000029.2:p.Arg2791del NC_000005.10:112843964:AGGA:A p.(Arg2791del) NC_000005.10:112843964:AGGA:A p.(Arg2791del) NC_000005.10:112843965:GGA: Identity +NM_001042663.3:c.2689C>T NP_001036128.2:p.Arg897Cys NC_000001.11:6468257:G:A p.(Arg897Cys) NC_000001.11:6468257:G:A p.(Arg897Cys) NC_000001.11:6468257:G:A Identity +NM_032043.3:c.1735C>A NP_114432.2:p.Arg579Ser NC_000017.11:61780898:G:T p.(Arg579Ser) NC_000017.11:61780898:G:T p.(Arg579Ser) NC_000017.11:61780898:G:T Identity +NM_001008537.3:c.1121G>A NP_001008537.1:p.Gly374Glu NC_000023.11:74743435:C:T p.(Gly374Glu) NC_000023.11:74743435:C:T p.(Gly374Glu) NC_000023.11:74743435:C:T Identity +NM_004415.4:c.5153T>C NP_004406.2:p.Leu1718Ser NC_000006.12:7581342:T:C p.(Leu1718Ser) NC_000006.12:7581342:T:C p.(Leu1718Ser) NC_000006.12:7581342:T:C Identity +NM_173354.5:c.1538C>T NP_775490.2:p.Ala513Val NC_000021.9:43418465:G:A p.(Ala513Val) NC_000021.9:43418465:G:A p.(Ala513Val) NC_000021.9:43418465:G:A Identity +NM_001244008.2:c.686G>A NP_001230937.1:p.Arg229His NC_000002.12:240785022:C:T p.(Arg229His) NC_000002.12:240785022:C:T p.(Arg229His) NC_000002.12:240785022:C:T Identity +NM_001165963.4:c.3971dup NP_001159435.1:p.Arg1325fs NC_000002.12:166009749:A:AA p.(Arg1325LysfsTer7) NC_000002.12:166009749:A:AA p.(Arg1325LysfsTer7) ERR:SPDI Analogous +NM_001128844.3:c.848C>T NP_001122316.1:p.Pro283Leu NC_000019.10:10986991:C:T p.(Pro283Leu) NC_000019.10:10986991:C:T p.(Pro283Leu) NC_000019.10:10986991:C:T Identity +NM_005045.4:c.2071T>G NP_005036.2:p.Cys691Gly NC_000007.14:103636466:A:C p.(Cys691Gly) NC_000007.14:103636466:A:C p.(Cys691Gly) NC_000007.14:103636466:A:C Identity +NM_001330209.2:c.324G>A NP_001317138.1:p.Met108Ile NC_000023.11:13738856:G:A p.(Met108Ile) NC_000023.11:13738856:G:A p.(Met108Ile) NC_000023.11:13738856:G:A Identity +NM_000540.3:c.6533T>A NP_000531.2:p.Met2178Lys NC_000019.10:38494609:T:A p.(Met2178Lys) NC_000019.10:38494609:T:A p.(Met2178Lys) NC_000019.10:38494609:T:A Identity +NM_001080522.2:c.1546A>G NP_001073991.2:p.Met516Val NC_000004.12:15533271:A:G p.(Met516Val) NC_000004.12:15533271:A:G p.(Met516Val) NC_000004.12:15533271:A:G Identity +NM_000059.4:c.4448_4449del NP_000050.3:p.Thr1483fs NC_000013.11:32338801:ACA:A p.(Thr1483ArgfsTer4) NC_000013.11:32338801:ACA:A p.(Thr1483ArgfsTer4) NC_000013.11:32338802:CA: Analogous +NM_005198.5:c.55G>C NP_005189.2:p.Ala19Pro NC_000022.11:50582726:C:G p.(Ala19Pro) NC_000022.11:50582726:C:G p.(Ala19Pro) NC_000022.11:50582726:C:G Identity +NM_001079821.3:c.715T>A NP_001073289.2:p.Leu239Met NC_000001.11:247424163:T:A p.(Leu239Met) NC_000001.11:247424163:T:A p.(Leu239Met) NC_000001.11:247424163:T:A Identity +NM_181882.3:c.4108C>A NP_870998.2:p.Arg1370Ser NC_000019.10:40394243:G:T p.(Arg1370Ser) NC_000019.10:40394243:G:T p.(Arg1370Ser) NC_000019.10:40394243:G:T Identity +NM_033071.5:c.3562C>T NP_149062.2:p.Leu1188Phe NC_000006.12:152447585:G:A p.(Leu1188Phe) NC_000006.12:152447585:G:A p.(Leu1188Phe) NC_000006.12:152447585:G:A Identity +NM_004260.4:c.391G>C NP_004251.4:p.Gly131Arg NC_000008.11:144516727:C:G p.(Gly131Arg) NC_000008.11:144516727:C:G p.(Gly131Arg) NC_000008.11:144516727:C:G Identity +NM_000548.5:c.1925C>G NP_000539.2:p.Pro642Arg NC_000016.10:2071594:C:G p.(Pro642Arg) NC_000016.10:2071594:C:G p.(Pro642Arg) NC_000016.10:2071594:C:G Identity +NM_001244008.2:c.3626C>T NP_001230937.1:p.Pro1209Leu NC_000002.12:240742942:G:A p.(Pro1209Leu) NC_000002.12:240742942:G:A p.(Pro1209Leu) NC_000002.12:240742942:G:A Identity +NM_000083.3:c.2722A>G NP_000074.3:p.Asn908Asp NC_000007.14:143351719:A:G p.(Asn908Asp) NC_000007.14:143351719:A:G p.(Asn908Asp) NC_000007.14:143351719:A:G Identity +NM_001256849.1:c.2911G>A NP_001243778.1:p.Glu971Lys NC_000019.10:50416485:G:A p.(Glu971Lys) NC_000019.10:50416485:G:A p.(Glu971Lys) NC_000019.10:50416485:G:A Identity +NM_000138.5:c.1868G>A NP_000129.3:p.Cys623Tyr NC_000015.10:48505116:C:T p.(Cys623Tyr) NC_000015.10:48505116:C:T p.(Cys623Tyr) NC_000015.10:48505116:C:T Identity +NM_006270.5:c.338G>A NP_006261.1:p.Arg113Gln NC_000019.10:49636829:C:T p.(Arg113Gln) NC_000019.10:49636829:C:T p.(Arg113Gln) NC_000019.10:49636829:C:T Identity +NM_001130144.3:c.1196C>T NP_001123616.1:p.Pro399Leu NC_000011.10:65552396:G:A p.(Pro399Leu) NC_000011.10:65552396:G:A p.(Pro399Leu) NC_000011.10:65552396:G:A Identity +NM_001130066.2:c.121C>T NP_001123538.1:p.Arg41Cys NC_000006.12:33423529:C:T p.(Arg41Cys) NC_000006.12:33423529:C:T p.(Arg41Cys) NC_000006.12:33423529:C:T Identity +NM_001281463.1:c.2911G>T NP_001268392.1:p.Ala971Ser NC_000023.11:53383249:C:A p.(Ala971Ser) NC_000023.11:53383249:C:A p.(Ala971Ser) NC_000023.11:53383249:C:A Identity +NM_000179.3:c.2719G>A NP_000170.1:p.Val907Ile NC_000002.12:47800701:G:A p.(Val907Ile) NC_000002.12:47800701:G:A p.(Val907Ile) NC_000002.12:47800701:G:A Identity +NM_001848.3:c.1231G>A NP_001839.2:p.Asp411Asn NC_000021.9:45992211:G:A p.(Asp411Asn) NC_000021.9:45992211:G:A p.(Asp411Asn) NC_000021.9:45992211:G:A Identity +NM_001271999.2:c.749G>A NP_001258928.1:p.Arg250Gln NC_000001.11:62647759:C:T p.(Arg250Gln) NC_000001.11:62647759:C:T p.(Arg250Gln) NC_000001.11:62647759:C:T Identity +NM_000544.3:c.529A>T NP_000535.3:p.Ile177Phe NC_000006.12:32837615:T:A p.(Ile177Phe) NT_167244.2:4142481:T:A p.(Ile177Phe) NC_000006.12:4142481:T:A Identity +LRG_386t1:c.3719T>A LRG_386p1:p.Ile1240Asn NC_000011.10:47332166:A:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001329939.2:c.1001A>G NP_001316868.1:p.His334Arg NC_000014.9:75961001:T:C p.(His334Arg) NC_000014.9:75961001:T:C p.(His334Arg) NC_000014.9:75961001:T:C Identity +NM_000334.4:c.2419G>A NP_000325.4:p.Ala807Thr NC_000017.11:63951857:C:T p.(Ala807Thr) NC_000017.11:63951857:C:T p.(Ala807Thr) NC_000017.11:63951857:C:T Identity +NM_024577.4:c.1922G>A NP_078853.2:p.Arg641His NC_000005.10:149027809:C:T p.(Arg641His) NC_000005.10:149027809:C:T p.(Arg641His) NC_000005.10:149027809:C:T Identity +NM_001005505.3:c.2633A>G NP_001005505.1:p.Asn878Ser NC_000003.12:50366581:T:C p.(Asn878Ser) NC_000003.12:50366581:T:C p.(Asn878Ser) NC_000003.12:50366581:T:C Identity +NM_000090.4:c.1594G>A NP_000081.2:p.Gly532Ser NC_000002.12:188995775:G:A p.(Gly532Ser) NC_000002.12:188995775:G:A p.(Gly532Ser) NC_000002.12:188995775:G:A Identity +NM_006231.4:c.1625dup NP_006222.2:p.His543fs NC_000012.12:132672687:CCCCC:CCCCCC p.(His543ProfsTer19) NC_000012.12:132672687:CCCCC:CCCCCC p.(His543ProfsTer19) ERR:SPDI Analogous +NM_001005407.2:c.5955C>A NP_001005407.1:p.Ser1985Arg NC_000016.10:1219054:C:A p.(Ser1985Arg) NC_000016.10:1219054:C:A p.(Ser1985Arg) NC_000016.10:1219054:C:A Identity +NM_000152.5:c.2515C>A NP_000143.2:p.Gln839Lys NC_000017.11:80118225:C:A p.(Gln839Lys) NC_000017.11:80118225:C:A p.(Gln839Lys) NC_000017.11:80118225:C:A Identity +NM_000806.5:c.1108C>A NP_000797.2:p.Pro370Thr NC_000005.10:161897158:C:A p.(Pro370Thr) NC_000005.10:161897158:C:A p.(Pro370Thr) NC_000005.10:161897158:C:A Identity +NM_001258392.3:c.844A>G NP_001245321.1:p.Met282Val NC_000011.10:72329735:T:C p.(Met282Val) NC_000011.10:72329735:T:C p.(Met282Val) NC_000011.10:72329735:T:C Identity +NM_001165963.4:c.3989T>C NP_001159435.1:p.Phe1330Ser NC_000002.12:166009731:A:G p.(Phe1330Ser) NC_000002.12:166009731:A:G p.(Phe1330Ser) NC_000002.12:166009731:A:G Identity +NM_000152.5:c.1631T>A NP_000143.2:p.Val544Glu NC_000017.11:80111019:T:A p.(Val544Glu) NC_000017.11:80111019:T:A p.(Val544Glu) NC_000017.11:80111019:T:A Identity +NM_001006658.3:c.2228C>T NP_001006659.1:p.Ser743Phe NC_000001.11:207473872:C:T p.(Ser743Phe) NC_000001.11:207473872:C:T p.(Ser743Phe) NC_000001.11:207473872:C:T Identity +NM_006270.5:c.400G>A NP_006261.1:p.Asp134Asn NC_000019.10:49636671:C:T p.(Asp134Asn) NC_000019.10:49636671:C:T p.(Asp134Asn) NC_000019.10:49636671:C:T Identity +NM_001164507.2:c.21859C>G NP_001157979.2:p.Arg7287Gly NC_000002.12:151527003:G:C p.(Arg7287Gly) NC_000002.12:151527003:G:C p.(Arg7287Gly) NC_000002.12:151527003:G:C Identity +LRG_1319t1:c.494T>C LRG_1319p1:p.Ile165Thr NC_000001.11:1212081:A:G ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found +NM_000038.6:c.4407A>T NP_000029.2:p.Gln1469His NC_000005.10:112840000:A:T p.(Gln1469His) NC_000005.10:112840000:A:T p.(Gln1469His) NC_000005.10:112840000:A:T Identity +NM_006231.4:c.4177A>G NP_006222.2:p.Met1393Val NC_000012.12:132643949:T:C p.(Met1393Val) NC_000012.12:132643949:T:C p.(Met1393Val) NC_000012.12:132643949:T:C Identity +LRG_1218t1:c.643G>A LRG_1218p1:p.Gly215Arg NC_000019.10:11576334:C:T ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found ERR:AlignmentMapper(tx_ac=LRG_1218t1, alt_ac=LRG_1218t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1218t1, alt_ac=LRG_1218t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found +NM_015512.5:c.11675_11676delinsCT NP_056327.4:p.Arg3892Pro NC_000003.12:52396931:GC:CT p.(Arg3892Pro) NC_000003.12:52396931:GC:CT p.(Arg3892Pro) NC_000003.12:52396931:GC:CT Identity +NM_032444.4:c.5072A>G NP_115820.2:p.Asn1691Ser NC_000016.10:3583177:T:C p.(Asn1691Ser) NC_000016.10:3583177:T:C p.(Asn1691Ser) NC_000016.10:3583177:T:C Identity +NM_000492.4:c.925G>A NP_000483.3:p.Ala309Thr NC_000007.14:117540154:G:A p.(Ala309Thr) NC_000007.14:117540154:G:A p.(Ala309Thr) NC_000007.14:117540154:G:A Identity +NM_001305275.2:c.4924G>A NP_001292204.1:p.Gly1642Ser NC_000001.11:1050276:G:A p.(Gly1642Ser) NC_000001.11:1050276:G:A p.(Gly1642Ser) NC_000001.11:1050276:G:A Identity +NM_001353765.2:c.109A>G NP_001340694.1:p.Ile37Val NC_000002.12:29223387:T:C p.(Ile37Val) NC_000002.12:29223387:T:C p.(Ile37Val) NC_000002.12:29223387:T:C Identity +NM_001558.4:c.574C>T NP_001549.2:p.Leu192Phe NC_000011.10:117994034:C:T p.(Leu192Phe) NC_000011.10:117994034:C:T p.(Leu192Phe) NC_000011.10:117994034:C:T Identity +NM_000355.4:c.737C>T NP_000346.2:p.Thr246Ile NC_000022.11:30615456:C:T p.(Thr246Ile) NC_000022.11:30615456:C:T p.(Thr246Ile) NC_000022.11:30615456:C:T Identity +NM_000251.3:c.1879A>G NP_000242.1:p.Lys627Glu NC_000002.12:47475143:A:G p.(Lys627Glu) NC_000002.12:47475143:A:G p.(Lys627Glu) NC_000002.12:47475143:A:G Identity +NM_000388.4:c.2105T>C NP_000379.3:p.Val702Ala NC_000003.12:122284058:T:C p.(Val702Ala) NC_000003.12:122284058:T:C p.(Val702Ala) NC_000003.12:122284058:T:C Identity +NM_002408.4:c.232G>A NP_002399.1:p.Ala78Thr NC_000014.9:49621499:G:A p.(Ala78Thr) NC_000014.9:49621499:G:A p.(Ala78Thr) NC_000014.9:49621499:G:A Identity +NM_001127487.2:c.5647G>A NP_001120959.1:p.Val1883Met NC_000007.14:128851531:G:A p.(Val1883Met) NC_000007.14:128851531:G:A p.(Val1883Met) NC_000007.14:128851531:G:A Identity +NM_000138.5:c.4177_4199del NP_000129.3:p.Glu1393fs NC_000015.10:48474265:AAGCCATCACCTGTGTATCCTTC: p.(Glu1393HisfsTer6) NC_000015.10:48474265:AAGCCATCACCTGTGTATCCTTC: p.(Glu1393HisfsTer6) NC_000015.10:48474265:AAGCCATCACCTGTGTATCCTTC: Analogous +NM_005359.6:c.969G>T NP_005350.1:p.Trp323Cys NC_000018.10:51065435:G:T p.(Trp323Cys) NC_000018.10:51065435:G:T p.(Trp323Cys) NC_000018.10:51065435:G:T Identity +NM_001174098.2:c.248G>A NP_001167569.1:p.Arg83His NC_000010.11:71323001:G:A p.(Arg83His) NC_000010.11:71323001:G:A p.(Arg83His) NC_000010.11:71323001:G:A Identity +NM_024675.4:c.2590C>A NP_078951.2:p.Pro864Thr NC_000016.10:23626393:G:T p.(Pro864Thr) NC_000016.10:23626393:G:T p.(Pro864Thr) NC_000016.10:23626393:G:T Identity +NM_000038.6:c.2453A>C NP_000029.2:p.Asn818Thr NC_000005.10:112838046:A:C p.(Asn818Thr) NC_000005.10:112838046:A:C p.(Asn818Thr) NC_000005.10:112838046:A:C Identity +NM_006206.6:c.3193G>A NP_006197.1:p.Glu1065Lys NC_000004.12:54295194:G:A p.(Glu1065Lys) NC_000004.12:54295194:G:A p.(Glu1065Lys) NC_000004.12:54295194:G:A Identity +NM_006516.4:c.56C>T NP_006507.2:p.Ala19Val NC_000001.11:42943283:G:A p.(Ala19Val) NC_000001.11:42943283:G:A p.(Ala19Val) NC_000001.11:42943283:G:A Identity +NM_013334.4:c.1034T>C NP_037466.3:p.Val345Ala NC_000003.12:49721881:A:G p.(Val345Ala) NC_000003.12:49721881:A:G p.(Val345Ala) NC_000003.12:49721881:A:G Identity +NM_001145527.2:c.1222G>C NP_001138999.1:p.Glu408Gln NC_000009.12:137752381:G:C p.(Glu408Gln) NC_000009.12:137752381:G:C p.(Glu408Gln) NC_000009.12:137752381:G:C Identity +NM_001145661.2:c.1331C>T NP_001139133.1:p.Pro444Leu NC_000003.12:128481130:G:A p.(Pro444Leu) NC_000003.12:128481130:G:A p.(Pro444Leu) NC_000003.12:128481130:G:A Identity +NM_000264.5:c.995G>C NP_000255.2:p.Arg332Thr NC_000009.12:95480040:C:G p.(Arg332Thr) NC_000009.12:95480040:C:G p.(Arg332Thr) NC_000009.12:95480040:C:G Identity +NM_000070.3:c.52C>T NP_000061.1:p.Arg18Trp NC_000015.10:42359856:C:T p.(Arg18Trp) NC_000015.10:42359856:C:T p.(Arg18Trp) NC_000015.10:42359856:C:T Identity +NM_001282206.2:c.332G>A NP_001269135.1:p.Arg111Gln NC_000009.12:34635671:C:T p.(Arg111Gln) NC_000009.12:34635671:C:T p.(Arg111Gln) NC_000009.12:34635671:C:T Identity +NM_000083.3:c.1444G>C NP_000074.3:p.Gly482Arg NC_000007.14:143339294:G:C p.(Gly482Arg) NC_000007.14:143339294:G:C p.(Gly482Arg) NC_000007.14:143339294:G:C Identity +NM_000244.4:c.1003C>T NP_000235.3:p.Arg335Cys NC_000011.10:64806292:G:A p.(Arg335Cys) NC_000011.10:64806292:G:A p.(Arg335Cys) NC_000011.10:64806292:G:A Identity +NM_001036.6:c.13769C>G NP_001027.3:p.Thr4590Ser NC_000015.10:33853651:C:G p.(Thr4590Ser) NC_000015.10:33853651:C:G p.(Thr4590Ser) NC_000015.10:33853651:C:G Identity +NM_025099.6:c.2575A>T NP_079375.3:p.Thr859Ser NC_000017.11:8231369:T:A p.(Thr859Ser) NC_000017.11:8231369:T:A p.(Thr859Ser) NC_000017.11:8231369:T:A Identity +NM_001308133.2:c.656C>T NP_001295062.1:p.Ala219Val NC_000014.9:45137215:C:T p.(Ala219Val) NC_000014.9:45137215:C:T p.(Ala219Val) NC_000014.9:45137215:C:T Identity +NM_000081.4:c.4108C>G NP_000072.2:p.Pro1370Ala NC_000001.11:235793510:G:C p.(Pro1370Ala) NC_000001.11:235793510:G:C p.(Pro1370Ala) NC_000001.11:235793510:G:C Identity +NM_001130916.3:c.500G>C NP_001124388.1:p.Arg167Pro NC_000009.12:99138014:G:C p.(Arg167Pro) NC_000009.12:99138014:G:C p.(Arg167Pro) NC_000009.12:99138014:G:C Identity +NM_001177984.3:c.5484G>A NP_001171455.1:p.Met1828Ile NC_000012.12:51807092:G:A p.(Met1828Ile) NC_000012.12:51807092:G:A p.(Met1828Ile) NC_000012.12:51807092:G:A Identity +NM_001378454.1:c.11332A>G NP_001365383.1:p.Arg3778Gly NC_000002.12:73573208:A:G p.(Arg3778Gly) NC_000002.12:73573208:A:G p.(Arg3778Gly) NC_000002.12:73573208:A:G Identity +LRG_1323t1:c.1447G>A LRG_1323p1:p.Gly483Arg NC_000002.12:47021915:G:A ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000348.4:c.143C>T NP_000339.2:p.Pro48Leu NC_000002.12:31580757:G:A p.(Pro48Leu) NC_000002.12:31580757:G:A p.(Pro48Leu) NC_000002.12:31580757:G:A Identity +NM_022114.4:c.2809C>A NP_071397.3:p.Pro937Thr NC_000001.11:3417944:C:A p.(Pro937Thr) NC_000001.11:3417944:C:A p.(Pro937Thr) NC_000001.11:3417944:C:A Identity +NM_014141.6:c.1998C>A NP_054860.1:p.Ser666Arg NC_000007.14:147639205:C:A p.(Ser666Arg) NC_000007.14:147639205:C:A p.(Ser666Arg) NC_000007.14:147639205:C:A Identity +NM_001024218.2:c.144G>T NP_001019389.1:p.Leu48Phe NC_000014.9:66776463:G:T p.(Leu48Phe) NC_000014.9:66776463:G:T p.(Leu48Phe) NC_000014.9:66776463:G:T Identity +NM_000169.3:c.525C>G NP_000160.1:p.Asp175Glu NC_000023.11:101401653:G:C p.(Asp175Glu) NC_000023.11:101401653:G:C p.(Asp175Glu) NC_000023.11:101401653:G:C Identity +NM_005732.4:c.3885G>T NP_005723.2:p.Gln1295His NC_000005.10:132642309:G:T p.(Gln1295His) NC_000005.10:132642309:G:T p.(Gln1295His) NC_000005.10:132642309:G:T Identity +NM_001199427.2:c.488G>A NP_001186356.1:p.Arg163Gln NC_000014.9:102876442:G:A p.(Arg163Gln) NC_000014.9:102876442:G:A p.(Arg163Gln) NC_000014.9:102876442:G:A Identity +NM_001195573.1:c.650A>T NP_001182502.1:p.Glu217Val NC_000014.9:95129555:T:A p.(Glu217Val) NC_000014.9:95129555:T:A p.(Glu217Val) NC_000014.9:95129555:T:A Identity +NM_001352773.2:c.1787C>T NP_001339702.1:p.Ser596Leu NC_000017.11:41757770:G:A p.(Ser596Leu) NC_000017.11:41757770:G:A p.(Ser596Leu) NC_000017.11:41757770:G:A Identity +NM_001127214.4:c.358G>A NP_001120686.1:p.Gly120Ser NC_000016.10:89101038:G:A p.(Gly120Ser) NC_000016.10:89101038:G:A p.(Gly120Ser) NC_000016.10:89101038:G:A Identity +NM_000109.4:c.675_679dup NP_000100.3:p.Leu227fs NC_000023.11:32699239:GTGATGTGATGT:GTGATGTGATGTGATGT p.(Leu227HisfsTer11) NC_000023.11:32699239:GTGATGTGATGT:GTGATGTGATGTGATGT p.(Leu227HisfsTer11) ERR:SPDI Analogous +NM_006231.4:c.4562A>G NP_006222.2:p.Asn1521Ser NC_000012.12:132642985:T:C p.(Asn1521Ser) NC_000012.12:132642985:T:C p.(Asn1521Ser) NC_000012.12:132642985:T:C Identity +NM_001378454.1:c.1886G>A NP_001365383.1:p.Gly629Asp NC_000002.12:73448412:G:A p.(Gly629Asp) NC_000002.12:73448412:G:A p.(Gly629Asp) NC_000002.12:73448412:G:A Identity +NM_025219.3:c.161C>T NP_079495.1:p.Ala54Val NC_000020.11:63929364:C:T p.(Ala54Val) NC_000020.11:63929364:C:T p.(Ala54Val) NC_000020.11:63929364:C:T Identity +NM_001257374.3:c.160C>T NP_001244303.1:p.Arg54Trp NC_000001.11:156130755:C:T p.(Arg54Trp) NC_000001.11:156130755:C:T p.(Arg54Trp) NC_000001.11:156130755:C:T Identity +NM_000310.4:c.283G>A NP_000301.1:p.Val95Met NC_000001.11:40092123:C:T p.(Val95Met) NC_000001.11:40092123:C:T p.(Val95Met) NC_000001.11:40092123:C:T Identity +NM_005585.5:c.173C>G NP_005576.3:p.Ser58Cys NC_000015.10:66703430:C:G p.(Ser58Cys) NC_000015.10:66703430:C:G p.(Ser58Cys) NC_000015.10:66703430:C:G Identity +NM_001166111.2:c.3330del NP_001159583.1:p.Arg1111fs NC_000019.10:7557186:G: p.(Arg1111AlafsTer4) NC_000019.10:7557186:G: p.(Arg1111AlafsTer4) NC_000019.10:7557186:G: Analogous +NM_015180.6:c.12118G>A NP_055995.4:p.Glu4040Lys NC_000014.9:64097957:G:A p.(Glu4040Lys) NC_000014.9:64097957:G:A p.(Glu4040Lys) NC_000014.9:64097957:G:A Identity +NM_015386.3:c.6del NP_056201.2:p.Thr3fs NC_000016.10:70523537:CCCC:CCC p.(Thr3ProfsTer38) NC_000016.10:70523537:CCCC:CCC p.(Thr3ProfsTer38) NC_000016.10:70523537:C: Analogous +NM_001257281.2:c.1126A>G NP_001244210.1:p.Lys376Glu NC_000002.12:232210326:A:G p.(Lys376Glu) NC_000002.12:232210326:A:G p.(Lys376Glu) NC_000002.12:232210326:A:G Identity +NM_001369.3:c.3538G>A NP_001360.1:p.Glu1180Lys NC_000005.10:13871623:C:T p.(Glu1180Lys) NC_000005.10:13871623:C:T p.(Glu1180Lys) NC_000005.10:13871623:C:T Identity +NM_001350626.2:c.236T>C NP_001337555.1:p.Leu79Pro NC_000007.14:2547369:A:G p.(Leu79Pro) NC_000007.14:2547369:A:G p.(Leu79Pro) NC_000007.14:2547369:A:G Identity +NM_000075.4:c.905C>T NP_000066.1:p.Pro302Leu NC_000012.12:57748531:G:A p.(Pro302Leu) NC_000012.12:57748531:G:A p.(Pro302Leu) NC_000012.12:57748531:G:A Identity +NM_003640.5:c.23G>A NP_003631.2:p.Arg8Gln NC_000009.12:108931123:C:T p.(Arg8Gln) NC_000009.12:108931123:C:T p.(Arg8Gln) NC_000009.12:108931123:C:T Identity +NM_005334.3:c.1427C>T NP_005325.2:p.Thr476Ile NC_000023.11:153959818:G:A p.(Thr476Ile) NC_000023.11:153959818:G:A p.(Thr476Ile) NC_000023.11:153959818:G:A Identity +NM_001324240.2:c.128C>T NP_001311169.1:p.Pro43Leu NC_000020.11:3213321:C:T p.(Pro43Leu) NC_000020.11:3213321:C:T p.(Pro43Leu) NC_000020.11:3213321:C:T Identity +NM_001305275.2:c.914_947del NP_001292204.1:p.Arg305fs NC_000001.11:1041354:GCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCC:GCCC p.(Arg305LeufsTer18) NC_000001.11:1041354:GCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCC:GCCC p.(Arg305LeufsTer18) NC_000001.11:1041358:GCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCC: Analogous +NM_001291997.2:c.614C>T NP_001278926.1:p.Ser205Leu NC_000016.10:78432648:C:T p.(Ser205Leu) NC_000016.10:78432648:C:T p.(Ser205Leu) NC_000016.10:78432648:C:T Identity +NM_001385678.1:c.655G>C NP_001372607.1:p.Asp219His NC_000019.10:4817680:C:G p.(Asp219His) NC_000019.10:4817680:C:G p.(Asp219His) NC_000019.10:4817680:C:G Identity +NM_006231.4:c.3818G>A NP_006222.2:p.Arg1273Gln NC_000012.12:132649492:C:T p.(Arg1273Gln) NC_000012.12:132649492:C:T p.(Arg1273Gln) NC_000012.12:132649492:C:T Identity +NM_000156.6:c.415C>T NP_000147.1:p.Leu139Phe NC_000019.10:1399171:G:A p.(Leu139Phe) NC_000019.10:1399171:G:A p.(Leu139Phe) NC_000019.10:1399171:G:A Identity +NM_006231.4:c.2068C>G NP_006222.2:p.Leu690Val NC_000012.12:132668460:G:C p.(Leu690Val) NC_000012.12:132668460:G:C p.(Leu690Val) NC_000012.12:132668460:G:C Identity +NM_001256849.1:c.1945A>C NP_001243778.1:p.Thr649Pro NC_000019.10:50409173:A:C p.(Thr649Pro) NC_000019.10:50409173:A:C p.(Thr649Pro) NC_000019.10:50409173:A:C Identity +NM_000222.3:c.1463C>T NP_000213.1:p.Thr488Met NC_000004.12:54725972:C:T p.(Thr488Met) NC_000004.12:54725972:C:T p.(Thr488Met) NC_000004.12:54725972:C:T Identity +NM_001267623.2:c.280C>T NP_001254552.1:p.Arg94Trp NC_000020.11:3218623:C:T p.(Arg94Trp) NC_000020.11:3218623:C:T p.(Arg94Trp) NC_000020.11:3218623:C:T Identity +NM_001294332.2:c.1791C>G NP_001281261.1:p.Ile597Met NC_000005.10:256359:C:G p.(Ile597Met) NC_000005.10:256359:C:G p.(Ile597Met) NC_000005.10:256359:C:G Identity +NM_001346083.2:c.2686A>T NP_001333012.1:p.Thr896Ser NC_000001.11:205072087:A:T p.(Thr896Ser) NC_000001.11:205072087:A:T p.(Thr896Ser) NC_000001.11:205072087:A:T Identity +NM_001281492.2:c.3566_3584del NP_001268421.1:p.Lys1189fs NC_000002.12:47806601:AGAAAAGCAAGAGAATTTGAGAA:AGAA p.(Lys1189ArgfsTer2) NC_000002.12:47806601:AGAAAAGCAAGAGAATTTGAGAA:AGAA p.(Lys1189ArgfsTer2) NC_000002.12:47806605:AAGCAAGAGAATTTGAGAA: Analogous +NM_024675.4:c.3129dup NP_078951.2:p.Gln1044fs NC_000016.10:23614075:A:AA p.(Gln1044SerfsTer9) NC_000016.10:23614075:A:AA p.(Gln1044SerfsTer9) ERR:SPDI Analogous +NM_001256267.2:c.2164C>T NP_001243196.1:p.Arg722Trp NC_000010.11:68174255:C:T p.(Arg722Trp) NC_000010.11:68174255:C:T p.(Arg722Trp) NC_000010.11:68174255:C:T Identity +NM_000364.4:c.10A>G NP_000355.2:p.Ile4Val NC_000001.11:201373244:T:C p.(Ile4Val) NC_000001.11:201373244:T:C p.(Ile4Val) NC_000001.11:201373244:T:C Identity +NM_000038.6:c.7498C>T NP_000029.2:p.Gln2500Ter NC_000005.10:112843091:C:T p.(Gln2500Ter) NC_000005.10:112843091:C:T p.(Gln2500Ter) NC_000005.10:112843091:C:T Identity +NM_001005360.3:c.1616A>T NP_001005360.1:p.Lys539Met NC_000019.10:10812321:A:T p.(Lys539Met) NC_000019.10:10812321:A:T p.(Lys539Met) NC_000019.10:10812321:A:T Identity +NM_000020.3:c.208G>A NP_000011.2:p.Gly70Arg NC_000012.12:51913244:G:A p.(Gly70Arg) NC_000012.12:51913244:G:A p.(Gly70Arg) NC_000012.12:51913244:G:A Identity +NM_000059.4:c.2498T>C NP_000050.3:p.Leu833Pro NC_000013.11:32336852:T:C p.(Leu833Pro) NC_000013.11:32336852:T:C p.(Leu833Pro) NC_000013.11:32336852:T:C Identity +NM_000719.7:c.2824A>G NP_000710.5:p.Thr942Ala NC_000012.12:2597259:A:G p.(Thr942Ala) NC_000012.12:2597259:A:G p.(Thr942Ala) NC_000012.12:2597259:A:G Identity +NM_000090.4:c.4301G>A NP_000081.2:p.Arg1434His NC_000002.12:189011673:G:A p.(Arg1434His) NC_000002.12:189011673:G:A p.(Arg1434His) NC_000002.12:189011673:G:A Identity +NM_001253815.2:c.1094del NP_001240744.1:p.Leu365fs NC_000008.11:144360681:T: p.(Leu365ArgfsTer25) NC_000008.11:144360681:T: p.(Leu365ArgfsTer25) NC_000008.11:144360681:T: Analogous +NM_000051.4:c.2585C>A NP_000042.3:p.Pro862His NC_000011.10:108267288:C:A p.(Pro862His) NC_000011.10:108267288:C:A p.(Pro862His) NC_000011.10:108267288:C:A Identity +NM_000314.8:c.512A>C NP_000305.3:p.Gln171Pro NC_000010.11:87952136:A:C p.(Gln171Pro) NC_000010.11:87952136:A:C p.(Gln171Pro) NC_000010.11:87952136:A:C Identity +NM_001083116.3:c.570C>A NP_001076585.1:p.His190Gln NC_000010.11:70599150:G:T p.(His190Gln) NC_000010.11:70599150:G:T p.(His190Gln) NC_000010.11:70599150:G:T Identity +NM_018941.4:c.117T>G NP_061764.2:p.Phe39Leu NC_000008.11:1771170:T:G p.(Phe39Leu) NC_000008.11:1771170:T:G p.(Phe39Leu) NC_000008.11:1771170:T:G Identity +NM_000245.4:c.1125C>A NP_000236.2:p.Asn375Lys NC_000007.14:116700208:C:A p.(Asn375Lys) NC_000007.14:116700208:C:A p.(Asn375Lys) NC_000007.14:116700208:C:A Identity +LRG_1226t1:c.2476A>G LRG_1226p1:p.Thr826Ala NC_000002.12:74461312:T:C ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_001040108.2:c.1353C>G NP_001035197.1:p.Ser451Arg NC_000014.9:75048302:G:C p.(Ser451Arg) NC_000014.9:75048302:G:C p.(Ser451Arg) NC_000014.9:75048302:G:C Identity +NM_001422628.1:c.133A>T NP_001409557.1:p.Asn45Tyr NC_000001.11:236427429:A:T p.(Asn45Tyr) NC_000001.11:236427429:A:T p.(Asn45Tyr) NC_000001.11:236427429:A:T Identity +NM_000335.5:c.104G>A NP_000326.2:p.Gly35Asp NC_000003.12:38633203:C:T p.(Gly35Asp) NC_000003.12:38633203:C:T p.(Gly35Asp) NC_000003.12:38633203:C:T Identity +NM_000138.5:c.2140G>C NP_000129.3:p.Gly714Arg NC_000015.10:48499011:C:G p.(Gly714Arg) NC_000015.10:48499011:C:G p.(Gly714Arg) NC_000015.10:48499011:C:G Identity +LRG_1226t1:c.925A>G LRG_1226p1:p.Arg309Gly NC_000002.12:74462863:T:C ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_001007188.4:c.763T>C NP_001007189.1:p.Tyr255His NC_000022.11:31792812:T:C p.(Tyr255His) NC_000022.11:31792812:T:C p.(Tyr255His) NC_000022.11:31792812:T:C Identity +NM_001031737.3:c.1277C>T NP_001026907.2:p.Thr426Met NC_000016.10:722941:G:A p.(Thr426Met) NC_000016.10:722941:G:A p.(Thr426Met) NC_000016.10:722941:G:A Identity +NM_000171.4:c.164G>C NP_000162.2:p.Arg55Thr NC_000005.10:151892330:C:G p.(Arg55Thr) NC_000005.10:151892330:C:G p.(Arg55Thr) NC_000005.10:151892330:C:G Identity +LRG_402t1:c.11992C>T LRG_402p1:p.Gln3998Ter NC_000001.11:237783703:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001362878.2:c.1004C>A NP_001349807.1:p.Ala335Asp NC_000008.11:37754098:C:A p.(Ala335Asp) NC_000008.11:37754098:C:A p.(Ala335Asp) NC_000008.11:37754098:C:A Identity +NM_000051.4:c.5038C>G NP_000042.3:p.Pro1680Ala NC_000011.10:108299745:C:G p.(Pro1680Ala) NC_000011.10:108299745:C:G p.(Pro1680Ala) NC_000011.10:108299745:C:G Identity +NM_000535.7:c.313G>C NP_000526.2:p.Gly105Arg NC_000007.14:6003729:C:G p.(Gly105Arg) NC_000007.14:6003729:C:G p.(Gly105Arg) NC_000007.14:6003729:C:G Identity +NM_000138.5:c.7210G>A NP_000129.3:p.Asp2404Asn NC_000015.10:48425858:C:T p.(Asp2404Asn) NC_000015.10:48425858:C:T p.(Asp2404Asn) NC_000015.10:48425858:C:T Identity +NM_001099679.2:c.1039G>C NP_001093149.1:p.Glu347Gln NC_000009.12:116698780:G:C p.(Glu347Gln) NC_000009.12:116698780:G:C p.(Glu347Gln) NC_000009.12:116698780:G:C Identity +NM_001024688.3:c.872A>G NP_001019859.1:p.Asp291Gly NC_000008.11:89958730:T:C p.(Asp291Gly) NC_000008.11:89958730:T:C p.(Asp291Gly) NC_000008.11:89958730:T:C Identity +NM_006036.4:c.694C>T NP_006027.2:p.Arg232Ter NC_000002.12:44342474:G:A p.(Arg232Ter) NC_000002.12:44342474:G:A p.(Arg232Ter) NC_000002.12:44342474:G:A Identity +NM_003079.5:c.1064A>G NP_003070.3:p.Gln355Arg NC_000017.11:40628956:T:C p.(Gln355Arg) NC_000017.11:40628956:T:C p.(Gln355Arg) NC_000017.11:40628956:T:C Identity +NM_001228.5:c.341A>G NP_001219.2:p.Asn114Ser NC_000002.12:201269544:A:G p.(Asn114Ser) NC_000002.12:201269544:A:G p.(Asn114Ser) NC_000002.12:201269544:A:G Identity +NM_004260.4:c.2273G>A NP_004251.4:p.Arg758Gln NC_000008.11:144513407:C:T p.(Arg758Gln) NC_000008.11:144513407:C:T p.(Arg758Gln) NC_000008.11:144513407:C:T Identity +NM_025099.6:c.1240G>T NP_079375.3:p.Gly414Trp NC_000017.11:8235251:C:A p.(Gly414Trp) NC_000017.11:8235251:C:A p.(Gly414Trp) NC_000017.11:8235251:C:A Identity +NM_001318031.2:c.203G>A NP_001304960.1:p.Arg68Gln NC_000020.11:51792279:C:T p.(Arg68Gln) NC_000020.11:51792279:C:T p.(Arg68Gln) NC_000020.11:51792279:C:T Identity +LRG_1226t1:c.1024C>G LRG_1226p1:p.Gln342Glu NC_000002.12:74462764:G:C ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_014797.3:c.1597G>C NP_055612.2:p.Val533Leu NC_000006.12:109466347:C:G p.(Val533Leu) NC_000006.12:109466347:C:G p.(Val533Leu) NC_000006.12:109466347:C:G Identity +NM_000268.4:c.1547G>A NP_000259.1:p.Arg516Gln NC_000022.11:29678295:G:A p.(Arg516Gln) NC_000022.11:29678295:G:A p.(Arg516Gln) NC_000022.11:29678295:G:A Identity +NM_000059.4:c.6279C>A NP_000050.3:p.His2093Gln NC_000013.11:32340633:C:A p.(His2093Gln) NC_000013.11:32340633:C:A p.(His2093Gln) NC_000013.11:32340633:C:A Identity +NM_001362843.2:c.4507C>T NP_001349772.1:p.Arg1503Ter NC_000022.11:41172630:C:T p.(Arg1503Ter) NC_000022.11:41172630:C:T p.(Arg1503Ter) NC_000022.11:41172630:C:T Identity +NM_145038.5:c.1424C>T NP_659475.2:p.Ala475Val NC_000002.12:26448717:C:T p.(Ala475Val) NC_000002.12:26448717:C:T p.(Ala475Val) NC_000002.12:26448717:C:T Identity +NM_000356.4:c.1148G>T NP_000347.2:p.Gly383Val NC_000005.10:150375053:G:T p.(Gly383Val) NC_000005.10:150375053:G:T p.(Gly383Val) NC_000005.10:150375053:G:T Identity +NM_000153.4:c.787G>A NP_000144.2:p.Ala263Thr NC_000014.9:87968455:C:T p.(Ala263Thr) NC_000014.9:87968455:C:T p.(Ala263Thr) NC_000014.9:87968455:C:T Identity +NM_002661.5:c.3004C>T NP_002652.2:p.Leu1002Phe NC_000016.10:81936329:C:T p.(Leu1002Phe) NC_000016.10:81936329:C:T p.(Leu1002Phe) NC_000016.10:81936329:C:T Identity +NM_001035512.3:c.235A>G NP_001030589.1:p.Ile79Val NC_000001.11:161356771:A:G p.(Ile79Val) NC_000001.11:161356771:A:G p.(Ile79Val) NC_000001.11:161356771:A:G Identity +NM_001369.3:c.3671A>G NP_001360.1:p.Lys1224Arg NC_000005.10:13870929:T:C p.(Lys1224Arg) NC_000005.10:13870929:T:C p.(Lys1224Arg) NC_000005.10:13870929:T:C Identity +NM_194318.4:c.56T>C NP_919299.3:p.Leu19Pro NC_000013.11:31200139:T:C p.(Leu19Pro) NC_000013.11:31200139:T:C p.(Leu19Pro) NC_000013.11:31200139:T:C Identity +NM_000455.5:c.1255_1256insTGAT NP_000446.1:p.Ser419fs NC_000019.10:1226599:T:TTGAT p.(Ser419LeufsTer186) NC_000019.10:1226599:T:TGAT p.(Ser419LeufsTer186) NC_000019.10:1226600:TC:TGAT Analogous +NM_001081640.2:c.7856G>A NP_001075109.1:p.Arg2619His NC_000008.11:47836432:C:T p.(Arg2619His) NC_000008.11:47836432:C:T p.(Arg2619His) NC_000008.11:47836432:C:T Identity +NM_181882.3:c.2311G>C NP_870998.2:p.Ala771Pro NC_000019.10:40396040:C:G p.(Ala771Pro) NC_000019.10:40396040:C:G p.(Ala771Pro) NC_000019.10:40396040:C:G Identity +NM_001024688.3:c.1160A>G NP_001019859.1:p.Asp387Gly NC_000008.11:89953682:T:C p.(Asp387Gly) NC_000008.11:89953682:T:C p.(Asp387Gly) NC_000008.11:89953682:T:C Identity +NM_001134363.3:c.838A>G NP_001127835.2:p.Lys280Glu NC_000010.11:110781446:A:G p.(Lys280Glu) NC_000010.11:110781446:A:G p.(Lys280Glu) NC_000010.11:110781446:A:G Identity +NM_000719.7:c.5339G>T NP_000710.5:p.Arg1780Leu NC_000012.12:2679690:G:T p.(Arg1780Leu) NC_000012.12:2679690:G:T p.(Arg1780Leu) NC_000012.12:2679690:G:T Identity +NM_001317184.2:c.1513A>G NP_001304113.1:p.Ile505Val NC_000016.10:68819409:A:G p.(Ile505Val) NC_000016.10:68819409:A:G p.(Ile505Val) NC_000016.10:68819409:A:G Identity +NM_001271938.2:c.1024G>A NP_001258867.1:p.Val342Met NC_000019.10:42336125:G:A p.(Val342Met) NC_000019.10:42336125:G:A p.(Val342Met) NC_000019.10:42336125:G:A Identity +NM_001999.4:c.4879A>C NP_001990.2:p.Thr1627Pro NC_000005.10:128312633:T:G p.(Thr1627Pro) NC_000005.10:128312633:T:G p.(Thr1627Pro) NC_000005.10:128312633:T:G Identity +NM_014365.3:c.541A>T NP_055180.1:p.Ser181Cys NC_000012.12:119193807:A:T p.(Ser181Cys) NC_000012.12:119193807:A:T p.(Ser181Cys) NC_000012.12:119193807:A:T Identity +NM_000249.4:c.953A>G NP_000240.1:p.His318Arg NC_000003.12:37020377:A:G p.(His318Arg) NC_000003.12:37020377:A:G p.(His318Arg) NC_000003.12:37020377:A:G Identity +NM_001003786.3:c.887G>A NP_001003786.1:p.Arg296Gln NC_000017.11:63704442:C:T p.(Arg296Gln) NC_000017.11:63704442:C:T p.(Arg296Gln) NC_000017.11:63704442:C:T Identity +NM_006267.5:c.5929A>G NP_006258.3:p.Lys1977Glu NC_000002.12:108766467:A:G p.(Lys1977Glu) NC_000002.12:108766467:A:G p.(Lys1977Glu) NC_000002.12:108766467:A:G Identity +NM_000445.5:c.11924C>T NP_000436.2:p.Ser3975Leu NC_000008.11:143917977:G:A p.(Ser3975Leu) NC_000008.11:143917977:G:A p.(Ser3975Leu) NC_000008.11:143917977:G:A Identity +NM_198586.3:c.406C>T NP_940988.2:p.Pro136Ser NC_000006.12:18122200:G:A p.(Pro136Ser) NC_000006.12:18122200:G:A p.(Pro136Ser) NC_000006.12:18122200:G:A Identity +NM_004304.5:c.1270A>G NP_004295.2:p.Asn424Asp NC_000002.12:29383743:T:C p.(Asn424Asp) NC_000002.12:29383743:T:C p.(Asn424Asp) NC_000002.12:29383743:T:C Identity +NM_001127698.2:c.3053T>C NP_001121170.1:p.Leu1018Pro NC_000005.10:148127077:T:C p.(Leu1018Pro) NC_000005.10:148127077:T:C p.(Leu1018Pro) NC_000005.10:148127077:T:C Identity +NM_000417.3:c.517G>A NP_000408.1:p.Gly173Arg NC_000010.11:6021543:C:T p.(Gly173Arg) NC_000010.11:6021543:C:T p.(Gly173Arg) NC_000010.11:6021543:C:T Identity +NM_000257.4:c.2135G>A NP_000248.2:p.Arg712His NC_000014.9:23425990:C:T p.(Arg712His) NC_000014.9:23425990:C:T p.(Arg712His) NC_000014.9:23425990:C:T Identity +NM_000069.3:c.520C>T NP_000060.2:p.Arg174Trp NC_000001.11:201091992:G:A p.(Arg174Trp) NC_000001.11:201091992:G:A p.(Arg174Trp) NC_000001.11:201091992:G:A Identity +NM_002876.4:c.31C>T NP_002867.1:p.Gln11Ter NC_000017.11:58692673:C:T p.(Gln11Ter) NC_000017.11:58692673:C:T p.(Gln11Ter) NC_000017.11:58692673:C:T Identity +NM_000068.4:c.3343G>T NP_000059.3:p.Ala1115Ser NC_000019.10:13286724:C:A p.(Ala1115Ser) NC_000019.10:13286724:C:A p.(Ala1115Ser) NC_000019.10:13286724:C:A Identity +NM_025243.4:c.400G>A NP_079519.1:p.Glu134Lys NC_000002.12:227699314:C:T p.(Glu134Lys) NC_000002.12:227699314:C:T p.(Glu134Lys) NC_000002.12:227699314:C:T Identity +NM_001256545.2:c.2330G>T NP_001243474.1:p.Arg777Leu NC_000005.10:127440834:G:T p.(Arg777Leu) NC_000005.10:127440834:G:T p.(Arg777Leu) NC_000005.10:127440834:G:T Identity +NM_005236.3:c.890A>G NP_005227.1:p.Tyr297Cys NC_000016.10:13930806:A:G p.(Tyr297Cys) NC_000016.10:13930806:A:G p.(Tyr297Cys) NC_000016.10:13930806:A:G Identity +LRG_1255t1:c.1490A>T LRG_1255p1:p.Asp497Val NC_000012.12:76346494:T:A ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1255t1, alt_ac=LRG_1255t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1255t1 not found +NM_001271.4:c.5002C>T NP_001262.3:p.His1668Tyr NC_000015.10:93020106:C:T p.(His1668Tyr) NC_000015.10:93020106:C:T p.(His1668Tyr) NC_000015.10:93020106:C:T Identity +NM_006231.4:c.2051A>T NP_006222.2:p.His684Leu NC_000012.12:132668477:T:A p.(His684Leu) NC_000012.12:132668477:T:A p.(His684Leu) NC_000012.12:132668477:T:A Identity +NM_001293557.2:c.178C>T NP_001280486.1:p.Arg60Cys NC_000016.10:50699672:C:T p.(Arg60Cys) NC_000016.10:50699672:C:T p.(Arg60Cys) NC_000016.10:50699672:C:T Identity +NM_001206927.2:c.13402C>T NP_001193856.1:p.Leu4468Phe NC_000006.12:39012244:C:T p.(Leu4468Phe) NC_000006.12:39012244:C:T p.(Leu4468Phe) NC_000006.12:39012244:C:T Identity +NM_001130846.4:c.64G>A NP_001124318.2:p.Val22Ile NC_000023.11:130136725:C:T p.(Val22Ile) NC_000023.11:130136725:C:T p.(Val22Ile) NC_000023.11:130136725:C:T Identity +NM_001007565.2:c.826T>C NP_001007566.1:p.Tyr276His NC_000003.12:100748153:T:C p.(Tyr276His) NC_000003.12:100748153:T:C p.(Tyr276His) NC_000003.12:100748153:T:C Identity +NM_001256442.2:c.493G>A NP_001243371.1:p.Asp165Asn NC_000016.10:29813546:G:A p.(Asp165Asn) NC_000016.10:29813546:G:A p.(Asp165Asn) NC_000016.10:29813546:G:A Identity +NM_138694.4:c.143G>A NP_619639.3:p.Gly48Asp NC_000006.12:52082529:C:T p.(Gly48Asp) NC_000006.12:52082529:C:T p.(Gly48Asp) NC_000006.12:52082529:C:T Identity +NM_001256849.1:c.95C>T NP_001243778.1:p.Ser32Phe NC_000019.10:50398945:C:T p.(Ser32Phe) NC_000019.10:50398945:C:T p.(Ser32Phe) NC_000019.10:50398945:C:T Identity +NM_000249.4:c.735C>A NP_000240.1:p.Tyr245Ter NC_000003.12:37014488:C:A p.(Tyr245Ter) NC_000003.12:37014488:C:A p.(Tyr245Ter) NC_000003.12:37014488:C:A Identity +NM_004370.6:c.6889G>A NP_004361.3:p.Ala2297Thr NC_000006.12:75123386:C:T p.(Ala2297Thr) NC_000006.12:75123386:C:T p.(Ala2297Thr) NC_000006.12:75123386:C:T Identity +NM_005732.4:c.3103GAA[2] NP_005723.2:p.Glu1037del NC_000005.10:132616068:GAAGAAGAA:GAAGAA p.(Glu1037del) NC_000005.10:132616068:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_001148.6:c.6883A>G NP_001139.3:p.Thr2295Ala NC_000004.12:113355500:A:G p.(Thr2295Ala) NC_000004.12:113355500:A:G p.(Thr2295Ala) NC_000004.12:113355500:A:G Identity +NM_002637.4:c.3068G>A NP_002628.2:p.Ser1023Asn NC_000023.11:72601994:C:T p.(Ser1023Asn) NC_000023.11:72601994:C:T p.(Ser1023Asn) NC_000023.11:72601994:C:T Identity +NM_001293306.2:c.319A>T NP_001280235.2:p.Thr107Ser NC_000003.12:38792119:T:A p.(Thr107Ser) NC_000003.12:38792119:T:A p.(Thr107Ser) NC_000003.12:38792119:T:A Identity +NM_001099400.2:c.506T>C NP_001092870.1:p.Met169Thr NC_000007.14:94618913:A:G p.(Met169Thr) NC_000007.14:94618913:A:G p.(Met169Thr) NC_000007.14:94618913:A:G Identity +NM_004975.4:c.2009G>A NP_004966.1:p.Arg670Gln NC_000020.11:49373550:C:T p.(Arg670Gln) NC_000020.11:49373550:C:T p.(Arg670Gln) NC_000020.11:49373550:C:T Identity +NM_033071.5:c.21256C>T NP_149062.2:p.Arg7086Cys NC_000006.12:152224546:G:A p.(Arg7086Cys) NC_000006.12:152224546:G:A p.(Arg7086Cys) NC_000006.12:152224546:G:A Identity +NM_001128844.3:c.1778_1780del NP_001122316.1:p.Glu593del NC_000019.10:10996507:AGAAG:AG p.(Glu593del) NC_000019.10:10996507:AGAAG:AG p.(Glu593del) NC_000019.10:10996509:AAG: Identity +NM_000335.5:c.2876T>C NP_000326.2:p.Leu959Pro NC_000003.12:38581282:A:G p.(Leu959Pro) NC_000003.12:38581282:A:G p.(Leu959Pro) NC_000003.12:38581282:A:G Identity +NM_000323.2:c.999C>G NP_000314.1:p.His333Gln NC_000010.11:43106506:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001319945.2:c.50A>C NP_001306874.1:p.Asn17Thr NC_000017.11:44071014:A:C p.(Asn17Thr) NC_000017.11:44071014:A:C p.(Asn17Thr) NC_000017.11:44071014:A:C Identity +NM_000161.3:c.524A>T NP_000152.1:p.Tyr175Phe NC_000014.9:54847115:T:A p.(Tyr175Phe) NC_000014.9:54847115:T:A p.(Tyr175Phe) NC_000014.9:54847115:T:A Identity +NM_001365536.1:c.4184G>A NP_001352465.1:p.Gly1395Asp NC_000002.12:166228712:C:T p.(Gly1395Asp) NC_000002.12:166228712:C:T p.(Gly1395Asp) NC_000002.12:166228712:C:T Identity +NM_001122633.3:c.4382T>A NP_001116105.2:p.Ile1461Asn NC_000002.12:210677113:T:A p.(Ile1461Asn) NC_000002.12:210677113:T:A p.(Ile1461Asn) NC_000002.12:210677113:T:A Identity +NM_000663.5:c.42C>G NP_000654.2:p.Phe14Leu NC_000016.10:8735780:C:G p.(Phe14Leu) NC_000016.10:8735780:C:G p.(Phe14Leu) NC_000016.10:8735780:C:G Identity +NM_003482.4:c.8478_8488del NP_003473.3:p.Thr2827fs NC_000012.12:49038867:GCATGGAGGTTGC:GC p.(Thr2827IlefsTer14) NC_000012.12:49038867:GCATGGAGGTTGC:GC p.(Thr2827IlefsTer14) NC_000012.12:49038867:GCATGGAGGTT: Analogous +NM_001282948.2:c.2725A>C NP_001269877.1:p.Ser909Arg NC_000010.11:63208397:T:G p.(Ser909Arg) NC_000010.11:63208397:T:G p.(Ser909Arg) NC_000010.11:63208397:T:G Identity +NM_000548.5:c.153A>C NP_000539.2:p.Glu51Asp NC_000016.10:2050413:A:C p.(Glu51Asp) NC_000016.10:2050413:A:C p.(Glu51Asp) NC_000016.10:2050413:A:C Identity +NM_000262.3:c.1225T>A NP_000253.1:p.Ser409Thr NC_000022.11:42060289:A:T p.(Ser409Thr) NC_000022.11:42060289:A:T p.(Ser409Thr) NC_000022.11:42060289:A:T Identity +NM_004975.4:c.1142G>A NP_004966.1:p.Gly381Glu NC_000020.11:49374417:C:T p.(Gly381Glu) NC_000020.11:49374417:C:T p.(Gly381Glu) NC_000020.11:49374417:C:T Identity +NM_000548.5:c.929A>T NP_000539.2:p.Tyr310Phe NC_000016.10:2058826:A:T p.(Tyr310Phe) NC_000016.10:2058826:A:T p.(Tyr310Phe) NC_000016.10:2058826:A:T Identity +NM_001199199.3:c.247A>G NP_001186128.1:p.Ile83Val NC_000001.11:33021675:T:C p.(Ile83Val) NC_000001.11:33021675:T:C p.(Ile83Val) NC_000001.11:33021675:T:C Identity +NM_001353765.2:c.1176G>C NP_001340694.1:p.Glu392Asp NC_000002.12:29193706:C:G p.(Glu392Asp) NC_000002.12:29193706:C:G p.(Glu392Asp) NC_000002.12:29193706:C:G Identity +NM_000426.4:c.4189G>C NP_000417.3:p.Gly1397Arg NC_000006.12:129328289:G:C p.(Gly1397Arg) NC_000006.12:129328289:G:C p.(Gly1397Arg) NC_000006.12:129328289:G:C Identity +NM_001352252.2:c.679G>A NP_001339181.1:p.Glu227Lys NC_000013.11:110642472:C:T p.(Glu227Lys) NC_000013.11:110642472:C:T p.(Glu227Lys) NC_000013.11:110642472:C:T Identity +NM_000294.3:c.907A>G NP_000285.1:p.Thr303Ala NC_000016.10:30756694:A:G p.(Thr303Ala) NC_000016.10:30756694:A:G p.(Thr303Ala) NC_000016.10:30756694:A:G Identity +LRG_1317t1:c.1734C>A LRG_1317p1:p.Phe578Leu NC_000002.12:32250129:G:T ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found +NM_000135.4:c.3623G>A NP_000126.2:p.Ser1208Asn NC_000016.10:89744961:C:T p.(Ser1208Asn) NC_000016.10:89744961:C:T p.(Ser1208Asn) NC_000016.10:89744961:C:T Identity +NM_000057.4:c.137A>G NP_000048.1:p.Asn46Ser NC_000015.10:90749404:A:G p.(Asn46Ser) NC_000015.10:90749404:A:G p.(Asn46Ser) NC_000015.10:90749404:A:G Identity +NM_001036.6:c.10685G>T NP_001027.3:p.Arg3562Leu NC_000015.10:33818662:G:T p.(Arg3562Leu) NC_000015.10:33818662:G:T p.(Arg3562Leu) NC_000015.10:33818662:G:T Identity +NM_032737.4:c.1298G>A NP_116126.3:p.Arg433His NC_000019.10:2434009:C:T p.(Arg433His) NC_000019.10:2434009:C:T p.(Arg433His) NC_000019.10:2434009:C:T Identity +NM_000368.5:c.2361G>C NP_000359.1:p.Glu787Asp NC_000009.12:132902634:C:G p.(Glu787Asp) NC_000009.12:132902634:C:G p.(Glu787Asp) NC_000009.12:132902634:C:G Identity +NM_000535.7:c.2478G>C NP_000526.2:p.Glu826Asp NC_000007.14:5973509:C:G p.(Glu826Asp) NC_000007.14:5973509:C:G p.(Glu826Asp) NC_000007.14:5973509:C:G Identity +NM_001317184.2:c.332C>T NP_001304113.1:p.Ser111Phe NC_000016.10:68801837:C:T p.(Ser111Phe) NC_000016.10:68801837:C:T p.(Ser111Phe) NC_000016.10:68801837:C:T Identity +NM_000138.5:c.5828G>T NP_000129.3:p.Arg1943Ile NC_000015.10:48445464:C:A p.(Arg1943Ile) NC_000015.10:48445464:C:A p.(Arg1943Ile) NC_000015.10:48445464:C:A Identity +NM_000268.4:c.736C>T NP_000259.1:p.Pro246Ser NC_000022.11:29661264:C:T p.(Pro246Ser) NC_000022.11:29661264:C:T p.(Pro246Ser) NC_000022.11:29661264:C:T Identity +NM_004320.6:c.195CCT[1] NP_004311.1:p.Leu67del NC_000016.10:28879556:CTCCTCCT:CTCCT p.(Leu67del) NC_000016.10:28879558:C:CCT ERR:Parse ERR:Parse Identity +NM_000553.6:c.554T>G NP_000544.2:p.Leu185Ter NC_000008.11:31067081:T:G p.(Leu185Ter) NC_000008.11:31067081:T:G p.(Leu185Ter) NC_000008.11:31067081:T:G Identity +NM_000179.3:c.922G>A NP_000170.1:p.Gly308Ser NC_000002.12:47798904:G:A p.(Gly308Ser) NC_000002.12:47798904:G:A p.(Gly308Ser) NC_000002.12:47798904:G:A Identity +NM_000179.3:c.365A>G NP_000170.1:p.Glu122Gly NC_000002.12:47791030:A:G p.(Glu122Gly) NC_000002.12:47791030:A:G p.(Glu122Gly) NC_000002.12:47791030:A:G Identity +NM_024675.4:c.3340C>T NP_078951.2:p.Gln1114Ter NC_000016.10:23607873:G:A p.(Gln1114Ter) NC_000016.10:23607873:G:A p.(Gln1114Ter) NC_000016.10:23607873:G:A Identity +NM_000553.6:c.3711del NP_000544.2:p.Lys1237fs NC_000008.11:31154643:AAAA:AAA p.(Lys1237AsnfsTer11) NC_000008.11:31154643:AAAA:AAA p.(Lys1237AsnfsTer11) NC_000008.11:31154646:A: Analogous +NM_003331.5:c.3475C>A NP_003322.3:p.Arg1159Ser NC_000019.10:10350922:G:T p.(Arg1159Ser) NC_000019.10:10350922:G:T p.(Arg1159Ser) NC_000019.10:10350922:G:T Identity +LRG_1234t1:c.4687G>T LRG_1234p1:p.Gly1563Cys NC_000018.10:45899525:C:A ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +NM_145046.5:c.740T>A NP_659483.2:p.Leu247Gln NC_000019.10:16482723:A:T p.(Leu247Gln) NC_000019.10:16482723:A:T p.(Leu247Gln) NC_000019.10:16482723:A:T Identity +NM_001278055.2:c.7916A>G NP_001264984.1:p.Asp2639Gly NC_000013.11:23335518:T:C p.(Asp2639Gly) NC_000013.11:23335518:T:C p.(Asp2639Gly) NC_000013.11:23335518:T:C Identity +NM_001379200.1:c.1261C>A NP_001366129.1:p.His421Asn NC_000022.11:19766612:C:A p.(His421Asn) NC_000022.11:19766612:C:A p.(His421Asn) NC_000022.11:19766612:C:A Identity +NM_000527.5:c.398A>C NP_000518.1:p.Asp133Ala NC_000019.10:11105303:A:C p.(Asp133Ala) NC_000019.10:11105303:A:C p.(Asp133Ala) NC_000019.10:11105303:A:C Identity +NM_001165963.4:c.4057G>T NP_001159435.1:p.Val1353Phe NC_000002.12:166002698:C:A p.(Val1353Phe) NC_000002.12:166002698:C:A p.(Val1353Phe) NC_000002.12:166002698:C:A Identity +NM_001293306.2:c.890T>C NP_001280235.2:p.Ile297Thr NC_000003.12:38760740:A:G p.(Ile297Thr) NC_000003.12:38760740:A:G p.(Ile297Thr) NC_000003.12:38760740:A:G Identity +NM_001308093.3:c.251A>G NP_001295022.1:p.Gln84Arg NC_000008.11:11708562:A:G p.(Gln84Arg) NC_000008.11:11708562:A:G p.(Gln84Arg) NC_000008.11:11708562:A:G Identity +NM_000222.3:c.8G>A NP_000213.1:p.Gly3Asp NC_000004.12:54658021:G:A p.(Gly3Asp) NC_000004.12:54658021:G:A p.(Gly3Asp) NC_000004.12:54658021:G:A Identity +NM_005677.4:c.970A>C NP_005668.2:p.Asn324His NC_000003.12:15456563:T:G p.(Asn324His) NC_000003.12:15456563:T:G p.(Asn324His) NC_000003.12:15456563:T:G Identity +NM_001352773.2:c.1885C>T NP_001339702.1:p.Pro629Ser NC_000017.11:41757672:G:A p.(Pro629Ser) NC_000017.11:41757672:G:A p.(Pro629Ser) NC_000017.11:41757672:G:A Identity +NM_033087.4:c.212C>T NP_149078.1:p.Ala71Val NC_000009.12:99221682:G:A p.(Ala71Val) NC_000009.12:99221682:G:A p.(Ala71Val) NC_000009.12:99221682:G:A Identity +NM_152393.4:c.1370T>A NP_689606.2:p.Val457Glu NC_000003.12:42688665:T:A p.(Val457Glu) NC_000003.12:42688665:T:A p.(Val457Glu) NC_000003.12:42688665:T:A Identity +NM_001999.4:c.7553C>T NP_001990.2:p.Pro2518Leu NC_000005.10:128276078:G:A p.(Pro2518Leu) NC_000005.10:128276078:G:A p.(Pro2518Leu) NC_000005.10:128276078:G:A Identity +NM_000553.6:c.3961C>T NP_000544.2:p.Arg1321Ter NC_000008.11:31157508:C:T p.(Arg1321Ter) NC_000008.11:31157508:C:T p.(Arg1321Ter) NC_000008.11:31157508:C:T Identity +NM_001127207.2:c.2260C>T NP_001120679.1:p.Arg754Cys NC_000002.12:216475283:C:T p.(Arg754Cys) NC_000002.12:216475283:C:T p.(Arg754Cys) NC_000002.12:216475283:C:T Identity +NM_198525.3:c.2060G>A NP_940927.2:p.Arg687Gln NC_000015.10:89645143:C:T p.(Arg687Gln) NC_000015.10:89645143:C:T p.(Arg687Gln) NC_000015.10:89645143:C:T Identity +NM_005751.5:c.4240A>G NP_005742.4:p.Ile1414Val NC_000007.14:92029985:A:G p.(Ile1414Val) NC_000007.14:92029985:A:G p.(Ile1414Val) NC_000007.14:92029985:A:G Identity +NM_001174150.2:c.393_396del NP_001167621.1:p.Gln132fs NC_000003.12:94035340:AAACAA:AA p.(Gln132IlefsTer6) NC_000003.12:94035340:AAACAA:AA p.(Gln132IlefsTer6) NC_000003.12:94035342:ACAA: Analogous +NM_000455.5:c.737A>G NP_000446.1:p.Tyr246Cys NC_000019.10:1221214:A:G p.(Tyr246Cys) NC_000019.10:1221214:A:G p.(Tyr246Cys) NC_000019.10:1221214:A:G Identity +NM_017570.5:c.2473G>A NP_060040.1:p.Gly825Arg NC_000008.11:144054849:C:T p.(Gly825Arg) NC_000008.11:144054849:C:T p.(Gly825Arg) NC_000008.11:144054849:C:T Identity +NM_032043.3:c.939T>G NP_114432.2:p.Tyr313Ter NC_000017.11:61801453:A:C p.(Tyr313Ter) NC_000017.11:61801453:A:C p.(Tyr313Ter) NC_000017.11:61801453:A:C Identity +NM_001258040.3:c.1252G>A NP_001244969.1:p.Ala418Thr NC_000005.10:140674764:C:T p.(Ala418Thr) NC_000005.10:140674764:C:T p.(Ala418Thr) NC_000005.10:140674764:C:T Identity +NM_001199917.2:c.1352T>G NP_001186846.1:p.Met451Arg NC_000006.12:83172033:A:C p.(Met451Arg) NC_000006.12:83172033:A:C p.(Met451Arg) NC_000006.12:83172033:A:C Identity +NM_000059.4:c.2183A>T NP_000050.3:p.Asp728Val NC_000013.11:32336537:A:T p.(Asp728Val) NC_000013.11:32336537:A:T p.(Asp728Val) NC_000013.11:32336537:A:T Identity +NM_001407571.1:c.3263T>A NP_001394500.1:p.Ile1088Lys NC_000017.11:43092054:A:T p.(Ile1088Lys) NC_000017.11:43092054:A:T p.(Ile1088Lys) NC_000017.11:43092054:A:T Identity +NM_001350338.2:c.199G>A NP_001337267.1:p.Asp67Asn NC_000021.9:32609945:C:T p.(Asp67Asn) NC_000021.9:32609945:C:T p.(Asp67Asn) NC_000021.9:32609945:C:T Identity +NM_000249.4:c.392C>T NP_000240.1:p.Ser131Leu NC_000003.12:37007001:C:T p.(Ser131Leu) NC_000003.12:37007001:C:T p.(Ser131Leu) NC_000003.12:37007001:C:T Identity +LRG_1247t1:c.706C>T LRG_1247p1:p.Gln236Ter NC_000007.14:4784286:C:T ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1247t1, alt_ac=LRG_1247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1247t1 not found +NM_000143.4:c.442C>T NP_000134.2:p.Gln148Ter NC_000001.11:241512079:G:A p.(Gln148Ter) NC_000001.11:241512079:G:A p.(Gln148Ter) NC_000001.11:241512079:G:A Identity +NM_000043.6:c.755del NP_000034.1:p.Asn252fs NC_000010.11:89014195:AA:A p.(Asn252MetfsTer8) NC_000010.11:89014195:AA:A p.(Asn252MetfsTer8) NC_000010.11:89014196:A: Analogous +NM_000059.4:c.556G>A NP_000050.3:p.Ala186Thr NC_000013.11:32326537:G:A p.(Ala186Thr) NC_000013.11:32326537:G:A p.(Ala186Thr) NC_000013.11:32326537:G:A Identity +NM_004370.6:c.1434G>C NP_004361.3:p.Gln478His NC_000006.12:75183506:C:G p.(Gln478His) NC_000006.12:75183506:C:G p.(Gln478His) NC_000006.12:75183506:C:G Identity +NM_001277155.3:c.571C>T NP_001264084.1:p.Arg191Ter NC_000001.11:235484428:G:A p.(Arg191Ter) NC_000001.11:235484428:G:A p.(Arg191Ter) NC_000001.11:235484428:G:A Identity +NM_001126131.2:c.2125C>G NP_001119603.1:p.Arg709Gly NC_000015.10:89323846:G:C p.(Arg709Gly) NC_000015.10:89323846:G:C p.(Arg709Gly) NC_000015.10:89323846:G:C Identity +NM_000079.4:c.1067A>C NP_000070.1:p.Lys356Thr NC_000002.12:174748754:T:G p.(Lys356Thr) NC_000002.12:174748754:T:G p.(Lys356Thr) NC_000002.12:174748754:T:G Identity +LRG_386t1:c.466C>G LRG_386p1:p.Leu156Val NC_000011.10:47350052:G:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001321135.2:c.430T>G NP_001308064.1:p.Tyr144Asp NC_000015.10:77028565:T:G p.(Tyr144Asp) NC_000015.10:77028565:T:G p.(Tyr144Asp) NC_000015.10:77028565:T:G Identity +NM_004656.4:c.1132G>A NP_004647.1:p.Ala378Thr NC_000003.12:52404570:C:T p.(Ala378Thr) NC_000003.12:52404570:C:T p.(Ala378Thr) NC_000003.12:52404570:C:T Identity +NM_000321.3:c.1163T>C NP_000312.2:p.Ile388Thr NC_000013.11:48373439:T:C p.(Ile388Thr) NC_000013.11:48373439:T:C p.(Ile388Thr) NC_000013.11:48373439:T:C Identity +NM_001005407.2:c.5711_5712inv NP_001005407.1:p.Asp1904Gly NC_000016.10:1218492:AC:GT p.(Asp1904Gly) NC_000016.10:1218492:AC:GT p.(Asp1904Gly) ERR:SPDI Identity +NM_001164507.2:c.25064G>A NP_001157979.2:p.Arg8355His NC_000002.12:151491768:C:T p.(Arg8355His) NC_000002.12:151491768:C:T p.(Arg8355His) NC_000002.12:151491768:C:T Identity +NM_001042594.2:c.1489A>G NP_001036059.1:p.Thr497Ala NC_000007.14:124823984:T:C p.(Thr497Ala) NC_000007.14:124823984:T:C p.(Thr497Ala) NC_000007.14:124823984:T:C Identity +NM_001044.5:c.1857G>C NP_001035.1:p.Lys619Asn NC_000005.10:1394740:C:G p.(Lys619Asn) NC_000005.10:1394740:C:G p.(Lys619Asn) NC_000005.10:1394740:C:G Identity +NM_000135.4:c.1691T>C NP_000126.2:p.Ile564Thr NC_000016.10:89779892:A:G p.(Ile564Thr) NC_000016.10:89779892:A:G p.(Ile564Thr) NC_000016.10:89779892:A:G Identity +NM_001347827.2:c.257A>G NP_001334756.1:p.Glu86Gly NC_000004.12:54261301:A:G p.(Glu86Gly) NC_000004.12:54261301:A:G p.(Glu86Gly) NC_000004.12:54261301:A:G Identity +NM_000179.3:c.3731T>C NP_000170.1:p.Leu1244Ser NC_000002.12:47806287:T:C p.(Leu1244Ser) NC_000002.12:47806287:T:C p.(Leu1244Ser) NC_000002.12:47806287:T:C Identity +NM_001329938.2:c.1A>G NP_001316867.1:p.Met1Val NC_000014.9:75980892:T:C p.(Met1Val) NC_000014.9:75980892:T:C p.Met1? NC_000014.9:75980892:T:C Identity +NM_001127178.3:c.1591G>A NP_001120650.1:p.Val531Met NC_000004.12:521917:G:A p.(Val531Met) NC_000004.12:521917:G:A p.(Val531Met) NC_000004.12:521917:G:A Identity +NM_004064.5:c.372C>A NP_004055.1:p.Asn124Lys NC_000012.12:12718210:C:A p.(Asn124Lys) NC_000012.12:12718210:C:A p.(Asn124Lys) NC_000012.12:12718210:C:A Identity +LRG_1319t1:c.721C>T LRG_1319p1:p.Arg241Trp NC_000001.11:1211745:G:A ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found +NM_000548.5:c.5093G>C NP_000539.2:p.Ser1698Thr NC_000016.10:2088071:G:C p.(Ser1698Thr) NC_000016.10:2088071:G:C p.(Ser1698Thr) NC_000016.10:2088071:G:C Identity +NM_000548.5:c.5165C>T NP_000539.2:p.Ala1722Val NC_000016.10:2088230:C:T p.(Ala1722Val) NC_000016.10:2088230:C:T p.(Ala1722Val) NC_000016.10:2088230:C:T Identity +NM_000081.4:c.3137A>G NP_000072.2:p.Asp1046Gly NC_000001.11:235805998:T:C p.(Asp1046Gly) NC_000001.11:235805998:T:C p.(Asp1046Gly) NC_000001.11:235805998:T:C Identity +NM_005732.4:c.799A>G NP_005723.2:p.Lys267Glu NC_000005.10:132587603:A:G p.(Lys267Glu) NC_000005.10:132587603:A:G p.(Lys267Glu) NC_000005.10:132587603:A:G Identity +LRG_517t1:c.2513C>G LRG_517p1:p.Ser838Ter NC_000013.11:48473382:C:G ERR:Data provider error: ValueError: Transcript LRG_517t1 not found ERR:Data provider error: ValueError: Transcript LRG_517t1 not found ERR:AlignmentMapper(tx_ac=LRG_517t1, alt_ac=LRG_517t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_517t1, alt_ac=LRG_517t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_517t1 not found +NM_015662.3:c.811C>T NP_056477.1:p.Arg271Ter NC_000002.12:27480123:G:A p.(Arg271Ter) NC_000002.12:27480123:G:A p.(Arg271Ter) NC_000002.12:27480123:G:A Identity +NM_001305005.3:c.1436T>G NP_001291934.1:p.Phe479Cys NC_000002.12:108010553:T:G p.(Phe479Cys) NC_000002.12:108010553:T:G p.(Phe479Cys) NC_000002.12:108010553:T:G Identity +NM_000323.2:c.1450A>G NP_000314.1:p.Met484Val NC_000010.11:43111392:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001354897.2:c.7669T>A NP_001341826.1:p.Trp2557Arg NC_000005.10:112843232:T:A p.(Trp2557Arg) NC_000005.10:112843232:T:A p.(Trp2557Arg) NC_000005.10:112843232:T:A Identity +NM_024675.4:c.3542_3543dup NP_078951.2:p.Val1182fs NC_000016.10:23603476:AAA:AAAAA p.(Val1182LeufsTer10) NC_000016.10:23603476:AAA:AAAAA p.(Val1182LeufsTer10) ERR:SPDI Analogous +NM_000489.6:c.6730C>T NP_000480.3:p.His2244Tyr NC_000023.11:77523370:G:A p.(His2244Tyr) NC_000023.11:77523370:G:A p.(His2244Tyr) NC_000023.11:77523370:G:A Identity +NM_130468.4:c.869C>T NP_569735.1:p.Ala290Val NC_000015.10:40472081:C:T p.(Ala290Val) NC_000015.10:40472081:C:T p.(Ala290Val) NC_000015.10:40472081:C:T Identity +NM_001256849.1:c.686A>G NP_001243778.1:p.Gln229Arg NC_000019.10:50402300:A:G p.(Gln229Arg) NC_000019.10:50402300:A:G p.(Gln229Arg) NC_000019.10:50402300:A:G Identity +NM_052813.5:c.1007C>T NP_434700.2:p.Ser336Phe NC_000009.12:136369819:G:A p.(Ser336Phe) NC_000009.12:136369819:G:A p.(Ser336Phe) NC_000009.12:136369819:G:A Identity +NM_001301012.2:c.172C>A NP_001287941.1:p.Leu58Ile NC_000006.12:133446717:C:A p.(Leu58Ile) NC_000006.12:133446717:C:A p.(Leu58Ile) NC_000006.12:133446717:C:A Identity +NM_000249.4:c.455T>G NP_000240.1:p.Val152Gly NC_000003.12:37008814:T:G p.(Val152Gly) NC_000003.12:37008814:T:G p.(Val152Gly) NC_000003.12:37008814:T:G Identity +NM_001018837.2:c.46C>T NP_001018238.1:p.Pro16Ser NC_000001.11:154272768:C:T p.(Pro16Ser) NC_000001.11:154272768:C:T p.(Pro16Ser) NC_000001.11:154272768:C:T Identity +NM_025014.2:c.1673A>C NP_079290.1:p.Gln558Pro NC_000017.11:8316116:A:C p.(Gln558Pro) NC_000017.11:8316116:A:C p.(Gln558Pro) NC_000017.11:8316116:A:C Identity +NM_001042594.2:c.70G>A NP_001036059.1:p.Asp24Asn NC_000007.14:124863432:C:T p.(Asp24Asn) NC_000007.14:124863432:C:T p.(Asp24Asn) NC_000007.14:124863432:C:T Identity +NM_001017423.2:c.1387G>C NP_001017423.1:p.Glu463Gln NC_000010.11:95621104:C:G p.(Glu463Gln) NC_000010.11:95621104:C:G p.(Glu463Gln) NC_000010.11:95621104:C:G Identity +NM_007254.4:c.776G>A NP_009185.2:p.Arg259Gln NC_000019.10:49863728:C:T p.(Arg259Gln) NC_000019.10:49863728:C:T p.(Arg259Gln) NC_000019.10:49863728:C:T Identity +NM_001305005.3:c.1319T>C NP_001291934.1:p.Val440Ala NC_000002.12:108010436:T:C p.(Val440Ala) NC_000002.12:108010436:T:C p.(Val440Ala) NC_000002.12:108010436:T:C Identity +NM_001363813.1:c.1777A>T NP_001350742.1:p.Ser593Cys NC_000017.11:65536488:T:A p.(Ser593Cys) NC_000017.11:65536488:T:A p.(Ser593Cys) NC_000017.11:65536488:T:A Identity +NM_001365536.1:c.3123T>A NP_001352465.1:p.His1041Gln NC_000002.12:166272626:A:T p.(His1041Gln) NC_000002.12:166272626:A:T p.(His1041Gln) NC_000002.12:166272626:A:T Identity +NM_004949.5:c.1844C>A NP_004940.1:p.Ser615Tyr NC_000018.10:31074726:G:T p.(Ser615Tyr) NC_000018.10:31074726:G:T p.(Ser615Tyr) NC_000018.10:31074726:G:T Identity +NM_000251.3:c.2034T>A NP_000242.1:p.Tyr678Ter NC_000002.12:47476394:T:A p.(Tyr678Ter) NC_000002.12:47476394:T:A p.(Tyr678Ter) NC_000002.12:47476394:T:A Identity +NM_001352253.3:c.94C>G NP_001339182.1:p.Arg32Gly NC_000013.11:110705999:G:C p.(Arg32Gly) NC_000013.11:110705999:G:C p.(Arg32Gly) NC_000013.11:110705999:G:C Identity +NM_001135659.3:c.4367C>G NP_001129131.1:p.Pro1456Arg NC_000002.12:49922220:G:C p.(Pro1456Arg) NC_000002.12:49922220:G:C p.(Pro1456Arg) NC_000002.12:49922220:G:C Identity +NM_001001890.3:c.23G>A NP_001001890.1:p.Ser8Asn NC_000021.9:34887089:C:T p.(Ser8Asn) NC_000021.9:34887089:C:T p.(Ser8Asn) NC_000021.9:34887089:C:T Identity +NM_000090.4:c.1201G>A NP_000081.2:p.Ala401Thr NC_000002.12:188994239:G:A p.(Ala401Thr) NC_000002.12:188994239:G:A p.(Ala401Thr) NC_000002.12:188994239:G:A Identity +NM_001353765.2:c.103TCC[1] NP_001340694.1:p.Ser36del NC_000002.12:29223388:GGAGGAGG:GGAGG p.(Ser36del) NC_000002.12:29223393:A:GGA ERR:Parse ERR:Parse Identity +NM_001363520.3:c.883delC NP_001350449.1:p.Ile297Tyrfs NC_000004.12:127921875:GGG:GG p.(Ile297TyrfsTer50) NC_000004.12:127921875:GGG:GG p.(Ile297TyrfsTer50) NC_000004.12:127921877:G: Analogous +NM_003924.4:c.515C>T NP_003915.2:p.Ser172Leu NC_000004.12:41746236:G:A p.(Ser172Leu) NC_000004.12:41746236:G:A p.(Ser172Leu) NC_000004.12:41746236:G:A Identity +NM_001199397.3:c.1925C>G NP_001186326.1:p.Ala642Gly NC_000004.12:169507118:G:C p.(Ala642Gly) NC_000004.12:169507118:G:C p.(Ala642Gly) NC_000004.12:169507118:G:C Identity +NM_006231.4:c.3989C>T NP_006222.2:p.Pro1330Leu NC_000012.12:132649321:G:A p.(Pro1330Leu) NC_000012.12:132649321:G:A p.(Pro1330Leu) NC_000012.12:132649321:G:A Identity +NM_000425.5:c.2195T>A NP_000416.1:p.Val732Asp NC_000023.11:153867066:A:T p.(Val732Asp) NC_000023.11:153867066:A:T p.(Val732Asp) NC_000023.11:153867066:A:T Identity +NM_000416.3:c.694A>G NP_000407.1:p.Lys232Glu NC_000006.12:137203537:T:C p.(Lys232Glu) NC_000006.12:137203537:T:C p.(Lys232Glu) NC_000006.12:137203537:T:C Identity +NM_000038.6:c.5507del NP_000029.2:p.Gly1836fs NC_000005.10:112841099:GG:G p.(Gly1836GlufsTer27) NC_000005.10:112841099:GG:G p.(Gly1836GlufsTer27) NC_000005.10:112841100:G: Analogous +NM_006231.4:c.5102A>T NP_006222.2:p.Asp1701Val NC_000012.12:132642247:T:A p.(Asp1701Val) NC_000012.12:132642247:T:A p.(Asp1701Val) NC_000012.12:132642247:T:A Identity +NM_001293306.2:c.2285G>A NP_001280235.2:p.Arg762His NC_000003.12:38728896:C:T p.(Arg762His) NC_000003.12:38728896:C:T p.(Arg762His) NC_000003.12:38728896:C:T Identity +NM_001253815.2:c.1240G>A NP_001240744.1:p.Val414Met NC_000008.11:144360916:G:A p.(Val414Met) NC_000008.11:144360916:G:A p.(Val414Met) NC_000008.11:144360916:G:A Identity +NM_003764.4:c.767C>G NP_003755.2:p.Thr256Ser NC_000006.12:144187393:C:G p.(Thr256Ser) NC_000006.12:144187393:C:G p.(Thr256Ser) NC_000006.12:144187393:C:G Identity +NM_001346754.2:c.431T>G NP_001333683.1:p.Ile144Ser NC_000017.11:36537531:T:G p.(Ile144Ser) NC_000017.11:36537531:T:G p.(Ile144Ser) NC_000017.11:36537531:T:G Identity +NM_015141.4:c.38C>T NP_055956.1:p.Ser13Leu NC_000003.12:32106748:C:T p.(Ser13Leu) NC_000003.12:32106748:C:T p.(Ser13Leu) NC_000003.12:32106748:C:T Identity +NM_001065.4:c.452A>G NP_001056.1:p.Asn151Ser NC_000012.12:6333386:T:C p.(Asn151Ser) NC_000012.12:6333386:T:C p.(Asn151Ser) NC_000012.12:6333386:T:C Identity +NM_001277115.2:c.5500C>T NP_001264044.1:p.Arg1834Cys NC_000007.14:21683822:C:T p.(Arg1834Cys) NC_000007.14:21683822:C:T p.(Arg1834Cys) NC_000007.14:21683822:C:T Identity +NM_020433.5:c.98A>G NP_065166.2:p.Lys33Arg NC_000020.11:44186607:T:C p.(Lys33Arg) NC_000020.11:44186607:T:C p.(Lys33Arg) NC_000020.11:44186607:T:C Identity +NM_001042771.3:c.803C>T NP_001036236.1:p.Thr268Met NC_000001.11:32276624:C:T p.(Thr268Met) NC_000001.11:32276624:C:T p.(Thr268Met) NC_000001.11:32276624:C:T Identity +NM_001008844.3:c.1582C>T NP_001008844.1:p.Gln528Ter NC_000006.12:7570443:C:T p.(Gln528Ter) NC_000006.12:7570443:C:T p.(Gln528Ter) NC_000006.12:7570443:C:T Identity +NM_000179.3:c.1606A>G NP_000170.1:p.Ser536Gly NC_000002.12:47799588:A:G p.(Ser536Gly) NC_000002.12:47799588:A:G p.(Ser536Gly) NC_000002.12:47799588:A:G Identity +NM_001036.6:c.10069G>A NP_001027.3:p.Gly3357Arg NC_000015.10:33810520:G:A p.(Gly3357Arg) NC_000015.10:33810520:G:A p.(Gly3357Arg) NC_000015.10:33810520:G:A Identity +NM_001317184.2:c.1927G>A NP_001304113.1:p.Gly643Arg NC_000016.10:68823571:G:A p.(Gly643Arg) NC_000016.10:68823571:G:A p.(Gly643Arg) NC_000016.10:68823571:G:A Identity +NM_000028.3:c.1421C>T NP_000019.2:p.Pro474Leu NC_000001.11:99876594:C:T p.(Pro474Leu) NC_000001.11:99876594:C:T p.(Pro474Leu) NC_000001.11:99876594:C:T Identity +NM_000553.6:c.4129G>T NP_000544.2:p.Gly1377Cys NC_000008.11:31167167:G:T p.(Gly1377Cys) NC_000008.11:31167167:G:T p.(Gly1377Cys) NC_000008.11:31167167:G:T Identity +NM_001294332.2:c.188A>G NP_001281261.1:p.Asp63Gly NC_000005.10:224396:A:G p.(Asp63Gly) NC_000005.10:224396:A:G p.(Asp63Gly) NC_000005.10:224396:A:G Identity +NM_001034833.2:c.143A>G NP_001030005.1:p.Tyr48Cys NC_000005.10:178153674:T:C p.(Tyr48Cys) NC_000005.10:178153674:T:C p.(Tyr48Cys) NC_000005.10:178153674:T:C Identity +NM_001347827.2:c.577G>A NP_001334756.1:p.Val193Ile NC_000004.12:54263875:G:A p.(Val193Ile) NC_000004.12:54263875:G:A p.(Val193Ile) NC_000004.12:54263875:G:A Identity +NM_024577.4:c.1040G>C NP_078853.2:p.Cys347Ser NC_000005.10:149031648:C:G p.(Cys347Ser) NC_000005.10:149031648:C:G p.(Cys347Ser) NC_000005.10:149031648:C:G Identity +NM_000135.4:c.1463A>G NP_000126.2:p.Tyr488Cys NC_000016.10:89784860:T:C p.(Tyr488Cys) NC_000016.10:89784860:T:C p.(Tyr488Cys) NC_000016.10:89784860:T:C Identity +NM_001042663.3:c.1847C>T NP_001036128.2:p.Pro616Leu NC_000001.11:6470299:G:A p.(Pro616Leu) NC_000001.11:6470299:G:A p.(Pro616Leu) NC_000001.11:6470299:G:A Identity +NM_000445.5:c.3799G>A NP_000436.2:p.Asp1267Asn NC_000008.11:143927447:C:T p.(Asp1267Asn) NC_000008.11:143927447:C:T p.(Asp1267Asn) NC_000008.11:143927447:C:T Identity +NM_004370.6:c.2324G>A NP_004361.3:p.Arg775Lys NC_000006.12:75177775:C:T p.(Arg775Lys) NC_000006.12:75177775:C:T p.(Arg775Lys) NC_000006.12:75177775:C:T Identity +NM_000802.3:c.293G>A NP_000793.1:p.Arg98Gln NC_000011.10:72195394:G:A p.(Arg98Gln) NC_000011.10:72195394:G:A p.(Arg98Gln) NC_000011.10:72195394:G:A Identity +NM_005188.4:c.227C>T NP_005179.2:p.Ala76Val NC_000011.10:119232478:C:T p.(Ala76Val) NC_000011.10:119232478:C:T p.(Ala76Val) NC_000011.10:119232478:C:T Identity +NM_022168.4:c.2016del NP_071451.2:p.Asp673fs NC_000002.12:162277442:T: p.(Asp673IlefsTer5) NC_000002.12:162277442:T: p.(Asp673IlefsTer5) NC_000002.12:162277442:T: Analogous +NM_001303256.3:c.2106C>A NP_001290185.1:p.Asn702Lys NC_000022.11:30934867:G:T p.(Asn702Lys) NC_000022.11:30934867:G:T p.(Asn702Lys) NC_000022.11:30934867:G:T Identity +NM_004518.6:c.1835T>C NP_004509.2:p.Leu612Pro NC_000020.11:63407343:A:G p.(Leu612Pro) NC_000020.11:63407343:A:G p.(Leu612Pro) NC_000020.11:63407343:A:G Identity +NM_017780.4:c.2147_2148delinsTT NP_060250.2:p.Lys716Ile NC_000008.11:60795035:AG:TT p.(Lys716Ile) NC_000008.11:60795035:AG:TT p.(Lys716Ile) NC_000008.11:60795035:AG:TT Identity +NM_000028.3:c.837C>A NP_000019.2:p.His279Gln NC_000001.11:99870571:C:A p.(His279Gln) NC_000001.11:99870571:C:A p.(His279Gln) NC_000001.11:99870571:C:A Identity +NM_000098.3:c.1049G>A NP_000089.1:p.Arg350His NC_000001.11:53210722:G:A p.(Arg350His) NC_000001.11:53210722:G:A p.(Arg350His) NC_000001.11:53210722:G:A Identity +NM_032806.6:c.458C>G NP_116195.2:p.Ala153Gly NC_000003.12:43080973:G:C p.(Ala153Gly) NC_000003.12:43080973:G:C p.(Ala153Gly) NC_000003.12:43080973:G:C Identity +NM_000109.4:c.1922G>A NP_000100.3:p.Arg641Gln NC_000023.11:32565747:C:T p.(Arg641Gln) NC_000023.11:32565747:C:T p.(Arg641Gln) NC_000023.11:32565747:C:T Identity +NM_001294332.2:c.1530G>T NP_001281261.1:p.Trp510Cys NC_000005.10:251347:G:T p.(Trp510Cys) NC_000005.10:251347:G:T p.(Trp510Cys) NC_000005.10:251347:G:T Identity +NM_012282.4:c.55G>T NP_036414.1:p.Glu19Ter NC_000023.11:109624965:C:A p.(Glu19Ter) NC_000023.11:109624965:C:A p.(Glu19Ter) NC_000023.11:109624965:C:A Identity +NM_000206.3:c.580G>T NP_000197.1:p.Asp194Tyr NC_000023.11:71110169:C:A p.(Asp194Tyr) NC_000023.11:71110169:C:A p.(Asp194Tyr) NC_000023.11:71110169:C:A Identity +NM_000098.3:c.1124G>A NP_000089.1:p.Gly375Asp NC_000001.11:53210797:G:A p.(Gly375Asp) NC_000001.11:53210797:G:A p.(Gly375Asp) NC_000001.11:53210797:G:A Identity +NM_001160227.2:c.999A>T NP_001153699.1:p.Gln333His NC_000015.10:44652136:T:A p.(Gln333His) NC_000015.10:44652136:T:A p.(Gln333His) NC_000015.10:44652136:T:A Identity +NM_000059.4:c.8920A>G NP_000050.3:p.Ile2974Val NC_000013.11:32379481:A:G p.(Ile2974Val) NC_000013.11:32379481:A:G p.(Ile2974Val) NC_000013.11:32379481:A:G Identity +NM_001377486.1:c.742G>A NP_001364415.1:p.Ala248Thr NC_000016.10:81365356:G:A p.(Ala248Thr) NC_000016.10:81365356:G:A p.(Ala248Thr) NC_000016.10:81365356:G:A Identity +NM_000257.4:c.3907C>T NP_000248.2:p.Arg1303Ter NC_000014.9:23419241:G:A p.(Arg1303Ter) NC_000014.9:23419241:G:A p.(Arg1303Ter) NC_000014.9:23419241:G:A Identity +NM_001256213.2:c.604G>T NP_001243142.1:p.Ala202Ser NC_000019.10:41985898:C:A p.(Ala202Ser) NC_000019.10:41985898:C:A p.(Ala202Ser) NC_000019.10:41985898:C:A Identity +NM_001280545.2:c.115C>T NP_001267474.1:p.Arg39Ter NC_000003.12:129466890:C:T p.(Arg39Ter) NC_000003.12:129466890:C:T p.(Arg39Ter) NC_000003.12:129466890:C:T Identity +NM_001256213.2:c.2710G>C NP_001243142.1:p.Gly904Arg NC_000019.10:41969445:C:G p.(Gly904Arg) NC_000019.10:41969445:C:G p.(Gly904Arg) NC_000019.10:41969445:C:G Identity +NM_001130455.2:c.3346G>T NP_001123927.1:p.Ala1116Ser NC_000002.12:71574365:G:T p.(Ala1116Ser) NC_000002.12:71574365:G:T p.(Ala1116Ser) NC_000002.12:71574365:G:T Identity +NM_004329.3:c.1322C>T NP_004320.2:p.Ala441Val NC_000010.11:86921674:C:T p.(Ala441Val) NC_000010.11:86921674:C:T p.(Ala441Val) NC_000010.11:86921674:C:T Identity +NM_001302453.1:c.949A>G NP_001289382.1:p.Thr317Ala NC_000019.10:11423881:T:C p.(Thr317Ala) NC_000019.10:11423881:T:C p.(Thr317Ala) NC_000019.10:11423881:T:C Identity +NM_000077.5:c.370C>G NP_000068.1:p.Arg124Gly NC_000009.12:21970988:G:C p.(Arg124Gly) NC_000009.12:21970988:G:C p.(Arg124Gly) NC_000009.12:21970988:G:C Identity +NM_001243342.2:c.232G>A NP_001230271.1:p.Glu78Lys NC_000017.11:80039949:G:A p.(Glu78Lys) NC_000017.11:80039949:G:A p.(Glu78Lys) NC_000017.11:80039949:G:A Identity +NM_000059.4:c.1726A>G NP_000050.3:p.Asn576Asp NC_000013.11:32333203:A:G p.(Asn576Asp) NC_000013.11:32333203:A:G p.(Asn576Asp) NC_000013.11:32333203:A:G Identity +NM_001253852.3:c.579_581del NP_001240781.1:p.Val194del NC_000001.11:113901271:ACAAC:AC p.(Val194del) NC_000001.11:113901271:ACAAC:AC p.(Val194del) NC_000001.11:113901271:ACA: Identity +NM_001370085.1:c.1201G>A NP_001357014.1:p.Ala401Thr NC_000020.11:761234:C:T p.(Ala401Thr) NC_000020.11:761234:C:T p.(Ala401Thr) NC_000020.11:761234:C:T Identity +NM_001291997.2:c.260A>G NP_001278926.1:p.Lys87Arg NC_000016.10:78386941:A:G p.(Lys87Arg) NC_000016.10:78386941:A:G p.(Lys87Arg) NC_000016.10:78386941:A:G Identity +NM_006516.4:c.902C>G NP_006507.2:p.Ala301Gly NC_000001.11:42929279:G:C p.(Ala301Gly) NC_000001.11:42929279:G:C p.(Ala301Gly) NC_000001.11:42929279:G:C Identity +NM_000833.5:c.2445C>A NP_000824.1:p.Asp815Glu NC_000016.10:9769000:G:T p.(Asp815Glu) NC_000016.10:9769000:G:T p.(Asp815Glu) NC_000016.10:9769000:G:T Identity +NM_000391.4:c.1208T>C NP_000382.3:p.Ile403Thr NC_000011.10:6615499:A:G p.(Ile403Thr) NC_000011.10:6615499:A:G p.(Ile403Thr) NC_000011.10:6615499:A:G Identity +NM_000061.3:c.278C>A NP_000052.1:p.Ser93Ter NC_000023.11:101371663:G:T p.(Ser93Ter) NC_000023.11:101371663:G:T p.(Ser93Ter) NC_000023.11:101371663:G:T Identity +NM_004369.4:c.5977C>T NP_004360.2:p.His1993Tyr NC_000002.12:237363338:G:A p.(His1993Tyr) NC_000002.12:237363338:G:A p.(His1993Tyr) NC_000002.12:237363338:G:A Identity +NM_001365536.1:c.2038C>G NP_001352465.1:p.Leu680Val NC_000002.12:166281744:G:C p.(Leu680Val) NC_000002.12:166281744:G:C p.(Leu680Val) NC_000002.12:166281744:G:C Identity +NM_000068.4:c.5078C>T NP_000059.3:p.Ser1693Phe NC_000019.10:13235620:G:A p.(Ser1693Phe) NC_000019.10:13235620:G:A p.(Ser1693Phe) NC_000019.10:13235620:G:A Identity +NM_004104.5:c.4303G>A NP_004095.4:p.Glu1435Lys NC_000017.11:82085140:C:T p.(Glu1435Lys) NC_000017.11:82085140:C:T p.(Glu1435Lys) NC_000017.11:82085140:C:T Identity +NM_001353765.2:c.1060C>G NP_001340694.1:p.Pro354Ala NC_000002.12:29193822:G:C p.(Pro354Ala) NC_000002.12:29193822:G:C p.(Pro354Ala) NC_000002.12:29193822:G:C Identity +NM_001005242.3:c.194C>T NP_001005242.2:p.Ala65Val NC_000012.12:32896537:G:A p.(Ala65Val) NC_000012.12:32896537:G:A p.(Ala65Val) NC_000012.12:32896537:G:A Identity +NM_001286957.2:c.1012C>T NP_001273886.1:p.His338Tyr NC_000012.12:48921428:C:T p.(His338Tyr) NC_000012.12:48921428:C:T p.(His338Tyr) NC_000012.12:48921428:C:T Identity +NM_001184985.2:c.4664C>G NP_001171914.1:p.Ser1555Cys NC_000012.12:884687:C:G p.(Ser1555Cys) NC_000012.12:884687:C:G p.(Ser1555Cys) NC_000012.12:884687:C:G Identity +NM_003803.4:c.4243A>G NP_003794.3:p.Ile1415Val NC_000018.10:3086045:T:C p.(Ile1415Val) NC_000018.10:3086045:T:C p.(Ile1415Val) NC_000018.10:3086045:T:C Identity +NM_001278590.2:c.563G>C NP_001265519.1:p.Gly188Ala NC_000004.12:39465296:G:C p.(Gly188Ala) NC_000004.12:39465296:G:C p.(Gly188Ala) NC_000004.12:39465296:G:C Identity +LRG_144t1:c.2323G>A LRG_144p1:p.Asp775Asn NC_000001.11:36466625:C:T ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_000086.2:c.1240A>G NP_000077.1:p.Ile414Val NC_000016.10:28477592:T:C p.(Ile414Val) NC_000016.10:28477592:T:C p.(Ile414Val) NC_000016.10:28477592:T:C Identity +NM_001348250.2:c.131G>C NP_001335179.1:p.Arg44Pro NC_000003.12:11017341:G:C p.(Arg44Pro) NC_000003.12:11017341:G:C p.(Arg44Pro) NC_000003.12:11017341:G:C Identity +NM_001277961.3:c.2287G>A NP_001264890.1:p.Asp763Asn NC_000011.10:4091708:G:A p.(Asp763Asn) NC_000011.10:4091708:G:A p.(Asp763Asn) NC_000011.10:4091708:G:A Identity +NM_000577.5:c.218G>T NP_000568.1:p.Cys73Phe NC_000002.12:113131110:G:T p.(Cys73Phe) NC_000002.12:113131110:G:T p.(Cys73Phe) NC_000002.12:113131110:G:T Identity +NM_001126105.3:c.91G>C NP_001119577.1:p.Val31Leu NC_000014.9:22813307:C:G p.(Val31Leu) NC_000014.9:22813307:C:G p.(Val31Leu) NC_000014.9:22813307:C:G Identity +NM_000038.6:c.3670_3671dup NP_000029.2:p.Asn1224fs NC_000005.10:112839263:AA:AAAA p.(Asn1224LysfsTer42) NC_000005.10:112839263:AA:AAAA p.(Asn1224LysfsTer42) ERR:SPDI Analogous +NM_001386339.1:c.2329T>G NP_001373268.1:p.Trp777Gly NC_000011.10:9856491:A:C p.(Trp777Gly) NC_000011.10:9856491:A:C p.(Trp777Gly) NC_000011.10:9856491:A:C Identity +NM_001282225.2:c.1069G>A NP_001269154.1:p.Ala357Thr NC_000022.11:17188350:C:T p.(Ala357Thr) NC_000022.11:17188350:C:T p.(Ala357Thr) NC_000022.11:17188350:C:T Identity +NM_001160227.2:c.6321G>A NP_001153699.1:p.Met2107Ile NC_000015.10:44567517:C:T p.(Met2107Ile) NC_000015.10:44567517:C:T p.(Met2107Ile) NC_000015.10:44567517:C:T Identity +NM_000051.4:c.1478G>A NP_000042.3:p.Arg493His NC_000011.10:108250942:G:A p.(Arg493His) NC_000011.10:108250942:G:A p.(Arg493His) NC_000011.10:108250942:G:A Identity +NM_001330609.2:c.1559G>T NP_001317538.1:p.Gly520Val NC_000008.11:125056689:C:A p.(Gly520Val) NC_000008.11:125056689:C:A p.(Gly520Val) NC_000008.11:125056689:C:A Identity +NM_001321309.2:c.5059G>A NP_001308238.1:p.Gly1687Arg NC_000003.12:123614262:C:T p.(Gly1687Arg) NC_000003.12:123614262:C:T p.(Gly1687Arg) NC_000003.12:123614262:C:T Identity +NM_001005242.3:c.739G>C NP_001005242.2:p.Gly247Arg NC_000012.12:32878140:C:G p.(Gly247Arg) NC_000012.12:32878140:C:G p.(Gly247Arg) NC_000012.12:32878140:C:G Identity +NM_001256545.2:c.1380T>G NP_001243474.1:p.Asn460Lys NC_000005.10:127419193:T:G p.(Asn460Lys) NC_000005.10:127419193:T:G p.(Asn460Lys) NC_000005.10:127419193:T:G Identity +NM_001256850.1:c.75247G>A NP_001243779.1:p.Glu25083Lys NC_000002.12:178565961:C:T p.(Glu25083Lys) NC_000002.12:178565961:C:T p.(Glu25083Lys) NC_000002.12:178565961:C:T Identity +NM_002878.4:c.241A>T NP_002869.3:p.Ile81Phe NC_000017.11:35118522:T:A p.(Ile81Phe) NC_000017.11:35118522:T:A p.(Ile81Phe) NC_000017.11:35118522:T:A Identity +NM_000663.5:c.365C>T NP_000654.2:p.Ala122Val NC_000016.10:8757804:C:T p.(Ala122Val) NC_000016.10:8757804:C:T p.(Ala122Val) NC_000016.10:8757804:C:T Identity +NM_000081.4:c.1636C>T NP_000072.2:p.Arg546Trp NC_000001.11:235809181:G:A p.(Arg546Trp) NC_000001.11:235809181:G:A p.(Arg546Trp) NC_000001.11:235809181:G:A Identity +NM_001353765.2:c.1043A>G NP_001340694.1:p.Lys348Arg NC_000002.12:29193839:T:C p.(Lys348Arg) NC_000002.12:29193839:T:C p.(Lys348Arg) NC_000002.12:29193839:T:C Identity +NM_032806.6:c.1313G>A NP_116195.2:p.Arg438Gln NC_000003.12:43080118:C:T p.(Arg438Gln) NC_000003.12:43080118:C:T p.(Arg438Gln) NC_000003.12:43080118:C:T Identity +NM_000073.3:c.33C>G NP_000064.1:p.Ile11Met NC_000011.10:118344455:C:G p.(Ile11Met) NC_000011.10:118344455:C:G p.(Ile11Met) NC_000011.10:118344455:C:G Identity +NM_001251987.2:c.529A>T NP_001238916.1:p.Lys177Ter NC_000006.12:123516161:T:A p.(Lys177Ter) NC_000006.12:123516161:T:A p.(Lys177Ter) NC_000006.12:123516161:T:A Identity +NM_006393.3:c.1401C>G NP_006384.1:p.Asp467Glu NC_000010.11:20835560:G:C p.(Asp467Glu) NC_000010.11:20835560:G:C p.(Asp467Glu) NC_000010.11:20835560:G:C Identity +NM_004501.3:c.809G>T NP_004492.2:p.Cys270Phe NC_000001.11:244862471:C:A p.(Cys270Phe) NC_000001.11:244862471:C:A p.(Cys270Phe) NC_000001.11:244862471:C:A Identity +NM_001110556.2:c.3602C>T NP_001104026.1:p.Ala1201Val NC_000023.11:154360192:G:A p.(Ala1201Val) NC_000023.11:154360192:G:A p.(Ala1201Val) NC_000023.11:154360192:G:A Identity +NM_005732.4:c.2426T>A NP_005723.2:p.Ile809Asn NC_000005.10:132603947:T:A p.(Ile809Asn) NC_000005.10:132603947:T:A p.(Ile809Asn) NC_000005.10:132603947:T:A Identity +NM_001099922.3:c.2594C>T NP_001093392.1:p.Ser865Phe NC_000023.11:111736777:C:T p.(Ser865Phe) NC_000023.11:111736777:C:T p.(Ser865Phe) NC_000023.11:111736777:C:T Identity +NM_002471.4:c.2965G>A NP_002462.2:p.Glu989Lys NC_000014.9:23393481:C:T p.(Glu989Lys) NC_000014.9:23393481:C:T p.(Glu989Lys) NC_000014.9:23393481:C:T Identity +NM_000532.5:c.1570A>G NP_000523.2:p.Ser524Gly NC_000003.12:136329975:A:G p.(Ser524Gly) NC_000003.12:136329975:A:G p.(Ser524Gly) NC_000003.12:136329975:A:G Identity +NM_018973.4:c.308A>C NP_061846.2:p.Glu103Ala NC_000001.11:155140022:T:G p.(Glu103Ala) NC_000001.11:155140022:T:G p.(Glu103Ala) NC_000001.11:155140022:T:G Identity +NM_000033.4:c.50G>A NP_000024.2:p.Arg17His NC_000023.11:153725315:G:A p.(Arg17His) NC_000023.11:153725315:G:A p.(Arg17His) NC_000023.11:153725315:G:A Identity +NM_024577.4:c.2146C>T NP_078853.2:p.Gln716Ter NC_000005.10:149027585:G:A p.(Gln716Ter) NC_000005.10:149027585:G:A p.(Gln716Ter) NC_000005.10:149027585:G:A Identity +NM_001081640.2:c.10178AGG[2] NP_001075109.1:p.Glu3395del NC_000008.11:47799320:CCTCCTCCTC:CCTCCTC p.(Glu3395del) NC_000008.11:47799328:T:CCTCCT ERR:Parse ERR:Parse Identity +NM_000251.3:c.1286A>C NP_000242.1:p.Gln429Pro NC_000002.12:47445556:A:C p.(Gln429Pro) NC_000002.12:47445556:A:C p.(Gln429Pro) NC_000002.12:47445556:A:C Identity +NM_001256714.1:c.584C>G NP_001243643.1:p.Ala195Gly NC_000019.10:55162232:G:C p.(Ala195Gly) NC_000019.10:55162232:G:C p.(Ala195Gly) NC_000019.10:55162232:G:C Identity +NM_001199107.2:c.68G>A NP_001186036.1:p.Gly23Glu NC_000016.10:2496215:G:A p.(Gly23Glu) NC_000016.10:2496215:G:A p.(Gly23Glu) NC_000016.10:2496215:G:A Identity +NM_000057.4:c.955C>T NP_000048.1:p.Leu319Phe NC_000015.10:90751941:C:T p.(Leu319Phe) NC_000015.10:90751941:C:T p.(Leu319Phe) NC_000015.10:90751941:C:T Identity +NM_001257281.2:c.305G>A NP_001244210.1:p.Arg102His NC_000002.12:232030018:G:A p.(Arg102His) NC_000002.12:232030018:G:A p.(Arg102His) NC_000002.12:232030018:G:A Identity +NM_000038.6:c.298G>A NP_000029.2:p.Glu100Lys NC_000005.10:112767265:G:A p.(Glu100Lys) NC_000005.10:112767265:G:A p.(Glu100Lys) NC_000005.10:112767265:G:A Identity +NM_001353229.2:c.1498A>G NP_001340158.1:p.Ile500Val NC_000017.11:17215078:T:C p.(Ile500Val) NC_000017.11:17215078:T:C p.(Ile500Val) NC_000017.11:17215078:T:C Identity +NM_001317799.2:c.736A>G NP_001304728.1:p.Thr246Ala NC_000004.12:122934329:A:G p.(Thr246Ala) NC_000004.12:122934329:A:G p.(Thr246Ala) NC_000004.12:122934329:A:G Identity +NM_001346897.2:c.1681C>G NP_001333826.1:p.Leu561Val NC_000007.14:55165372:C:G p.(Leu561Val) NC_000007.14:55165372:C:G p.(Leu561Val) NC_000007.14:55165372:C:G Identity +NM_001346897.2:c.1781A>C NP_001333826.1:p.Asn594Thr NC_000007.14:55171209:A:C p.(Asn594Thr) NC_000007.14:55171209:A:C p.(Asn594Thr) NC_000007.14:55171209:A:C Identity +NM_000051.4:c.520C>T NP_000042.3:p.Leu174Phe NC_000011.10:108243975:C:T p.(Leu174Phe) NC_000011.10:108243975:C:T p.(Leu174Phe) NC_000011.10:108243975:C:T Identity +NM_198137.2:c.523G>T NP_937770.1:p.Glu175Ter NC_000001.11:26197748:G:T p.(Glu175Ter) NC_000001.11:26197748:G:T p.(Glu175Ter) NC_000001.11:26197748:G:T Identity +NM_000115.5:c.778G>T NP_000106.1:p.Val260Phe NC_000013.11:77903178:C:A p.(Val260Phe) NC_000013.11:77903178:C:A p.(Val260Phe) NC_000013.11:77903178:C:A Identity +NM_001130455.2:c.3785C>T NP_001123927.1:p.Thr1262Met NC_000002.12:71600780:C:T p.(Thr1262Met) NC_000002.12:71600780:C:T p.(Thr1262Met) NC_000002.12:71600780:C:T Identity +NM_000057.4:c.14C>T NP_000048.1:p.Pro5Leu NC_000015.10:90747405:C:T p.(Pro5Leu) NC_000015.10:90747405:C:T p.(Pro5Leu) NC_000015.10:90747405:C:T Identity +NM_024675.4:c.1539dup NP_078951.2:p.Gly514fs NC_000016.10:23635006:T:TT p.(Gly514ArgfsTer15) NC_000016.10:23635006:T:TT p.(Gly514ArgfsTer15) ERR:SPDI Analogous +NM_001142333.2:c.94C>G NP_001135805.1:p.Pro32Ala NC_000016.10:7518212:C:G p.(Pro32Ala) NC_000016.10:7518212:C:G p.(Pro32Ala) NC_000016.10:7518212:C:G Identity +NM_000138.5:c.511G>A NP_000129.3:p.Gly171Arg NC_000015.10:48596309:C:T p.(Gly171Arg) NC_000015.10:48596309:C:T p.(Gly171Arg) NC_000015.10:48596309:C:T Identity +NM_001848.3:c.3041G>A NP_001839.2:p.Arg1014His NC_000021.9:46003966:G:A p.(Arg1014His) NC_000021.9:46003966:G:A p.(Arg1014His) NC_000021.9:46003966:G:A Identity +NM_000057.4:c.3021G>A NP_000048.1:p.Met1007Ile NC_000015.10:90794167:G:A p.(Met1007Ile) NC_000015.10:90794167:G:A p.(Met1007Ile) NC_000015.10:90794167:G:A Identity +NM_001376.5:c.92A>G NP_001367.2:p.Gln31Arg NC_000014.9:101964782:A:G p.(Gln31Arg) NC_000014.9:101964782:A:G p.(Gln31Arg) NC_000014.9:101964782:A:G Identity +NM_001048171.2:c.1515T>A NP_001041636.2:p.Phe505Leu NC_000001.11:45329356:A:T p.(Phe505Leu) NC_000001.11:45329356:A:T p.(Phe505Leu) NC_000001.11:45329356:A:T Identity +NM_000435.3:c.1283G>A NP_000426.2:p.Cys428Tyr NC_000019.10:15189083:C:T p.(Cys428Tyr) NC_000019.10:15189083:C:T p.(Cys428Tyr) NC_000019.10:15189083:C:T Identity +NM_000169.3:c.620A>C NP_000160.1:p.Tyr207Ser NC_000023.11:101400684:T:G p.(Tyr207Ser) NC_000023.11:101400684:T:G p.(Tyr207Ser) NC_000023.11:101400684:T:G Identity +NM_198443.2:c.345C>A NP_940845.1:p.Cys115Ter NC_000016.10:67886105:C:A p.(Cys115Ter) NC_000016.10:67886105:C:A p.(Cys115Ter) NC_000016.10:67886105:C:A Identity +LRG_1249t1:c.214C>T LRG_1249p1:p.Arg72Ter NC_000010.11:104076417:G:A ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_000530.8:c.547T>C NP_000521.2:p.Trp183Arg NC_000001.11:161306365:A:G p.(Trp183Arg) NC_000001.11:161306365:A:G p.(Trp183Arg) NC_000001.11:161306365:A:G Identity +NM_000264.5:c.1292T>C NP_000255.2:p.Leu431Pro NC_000009.12:95478109:A:G p.(Leu431Pro) NC_000009.12:95478109:A:G p.(Leu431Pro) NC_000009.12:95478109:A:G Identity +NM_000179.3:c.923G>C NP_000170.1:p.Gly308Ala NC_000002.12:47798905:G:C p.(Gly308Ala) NC_000002.12:47798905:G:C p.(Gly308Ala) NC_000002.12:47798905:G:C Identity +NM_000535.7:c.825A>T NP_000526.2:p.Gln275His NC_000007.14:5995611:T:A p.(Gln275His) NC_000007.14:5995611:T:A p.(Gln275His) NC_000007.14:5995611:T:A Identity +NM_000378.6:c.205T>A NP_000369.4:p.Ser69Thr NC_000011.10:32435155:A:T p.(Ser69Thr) NC_000011.10:32435155:A:T p.(Ser69Thr) NC_000011.10:32435155:A:T Identity +NM_000059.4:c.1953T>G NP_000050.3:p.Asp651Glu NC_000013.11:32336307:T:G p.(Asp651Glu) NC_000013.11:32336307:T:G p.(Asp651Glu) NC_000013.11:32336307:T:G Identity +NM_001110556.2:c.6937G>A NP_001104026.1:p.Glu2313Lys NC_000023.11:154351666:C:T p.(Glu2313Lys) NC_000023.11:154351666:C:T p.(Glu2313Lys) NC_000023.11:154351666:C:T Identity +NM_001316772.1:c.1000C>T NP_001303701.1:p.Arg334Trp NC_000007.14:30616025:C:T p.(Arg334Trp) NC_000007.14:30616025:C:T p.(Arg334Trp) NC_000007.14:30616025:C:T Identity +NM_001145770.3:c.26C>T NP_001139242.1:p.Thr9Met NC_000016.10:57650312:C:T p.(Thr9Met) NC_000016.10:57650312:C:T p.(Thr9Met) NC_000016.10:57650312:C:T Identity +NM_004004.6:c.653G>A NP_003995.2:p.Cys218Tyr NC_000013.11:20188928:C:T p.(Cys218Tyr) NC_000013.11:20188928:C:T p.(Cys218Tyr) NC_000013.11:20188928:C:T Identity +NM_001350626.2:c.814T>C NP_001337555.1:p.Phe272Leu NC_000007.14:2543312:A:G p.(Phe272Leu) NC_000007.14:2543312:A:G p.(Phe272Leu) NC_000007.14:2543312:A:G Identity +NM_000268.4:c.1059G>C NP_000259.1:p.Arg353Ser NC_000022.11:29671884:G:C p.(Arg353Ser) NC_000022.11:29671884:G:C p.(Arg353Ser) NC_000022.11:29671884:G:C Identity +NM_001093730.1:c.1281_1282dup NP_001087199.1:p.Glu428fs NC_000002.12:206663253:CCCC:CCCCCC p.(Glu428GlyfsTer61) NC_000002.12:206663253:CCCC:CCCCCC p.(Glu428GlyfsTer61) ERR:SPDI Analogous +NM_001378969.1:c.553T>C NP_001365898.1:p.Phe185Leu NC_000001.11:111982173:A:G p.(Phe185Leu) NC_000001.11:111982173:A:G p.(Phe185Leu) NC_000001.11:111982173:A:G Identity +NM_001362949.2:c.941A>T NP_001349878.1:p.Gln314Leu NC_000022.11:33384255:T:A p.(Gln314Leu) NC_000022.11:33384255:T:A p.(Gln314Leu) NC_000022.11:33384255:T:A Identity +NM_000083.3:c.905A>G NP_000074.3:p.Tyr302Cys NC_000007.14:143330822:A:G p.(Tyr302Cys) NC_000007.14:143330822:A:G p.(Tyr302Cys) NC_000007.14:143330822:A:G Identity +NM_000117.3:c.116_143del NP_000108.1:p.Phe39fs NC_000023.11:154379720:CTTCGAGTACGAGACCCAGAGGCGGCGGCT:CT p.(Phe39SerfsTer17) NC_000023.11:154379720:CTTCGAGTACGAGACCCAGAGGCGGCGGCT:CT p.(Phe39SerfsTer17) NC_000023.11:154379722:TCGAGTACGAGACCCAGAGGCGGCGGCT: Analogous +NM_014053.4:c.391A>G NP_054772.1:p.Ile131Val NC_000001.11:212858842:A:G p.(Ile131Val) NC_000001.11:212858842:A:G p.(Ile131Val) NC_000001.11:212858842:A:G Identity +NM_001291860.2:c.12331C>T NP_001278789.1:p.Arg4111Cys NC_000001.11:21828335:G:A p.(Arg4111Cys) NC_000001.11:21828335:G:A p.(Arg4111Cys) NC_000001.11:21828335:G:A Identity +NM_000352.6:c.928G>A NP_000343.2:p.Asp310Asn NC_000011.10:17460570:C:T p.(Asp310Asn) NC_000011.10:17460570:C:T p.(Asp310Asn) NC_000011.10:17460570:C:T Identity +NM_152743.4:c.1267G>A NP_689956.2:p.Val423Ile NC_000007.14:2541351:C:T p.(Val423Ile) NC_000007.14:2541351:C:T p.(Val423Ile) NC_000007.14:2541351:C:T Identity +NM_005732.4:c.2809A>T NP_005723.2:p.Asn937Tyr NC_000005.10:132608704:A:T p.(Asn937Tyr) NC_000005.10:132608704:A:T p.(Asn937Tyr) NC_000005.10:132608704:A:T Identity +NM_002334.4:c.1175C>T NP_002325.2:p.Thr392Met NC_000011.10:46895891:G:A p.(Thr392Met) NC_000011.10:46895891:G:A p.(Thr392Met) NC_000011.10:46895891:G:A Identity +NM_001290048.2:c.886T>C NP_001276977.1:p.Ser296Pro NC_000011.10:63636244:A:G p.(Ser296Pro) NC_000011.10:63636244:A:G p.(Ser296Pro) NC_000011.10:63636244:A:G Identity +NM_001378969.1:c.1027G>A NP_001365898.1:p.Glu343Lys NC_000001.11:111981699:C:T p.(Glu343Lys) NC_000001.11:111981699:C:T p.(Glu343Lys) NC_000001.11:111981699:C:T Identity +NM_012327.6:c.2486C>T NP_036459.1:p.Ala829Val NC_000018.10:62084546:G:A p.(Ala829Val) NC_000018.10:62084546:G:A p.(Ala829Val) NC_000018.10:62084546:G:A Identity +NM_000109.4:c.6172G>T NP_000100.3:p.Ala2058Ser NC_000023.11:32287622:C:A p.(Ala2058Ser) NC_000023.11:32287622:C:A p.(Ala2058Ser) NC_000023.11:32287622:C:A Identity +NM_000344.4:c.460C>T NP_000335.1:p.Gln154Ter NC_000005.10:70942543:C:T p.(Gln154Ter) NC_000005.10:70942543:C:T p.(Gln154Ter) NC_000005.10:70942543:C:T Identity +NM_001254734.2:c.644T>C NP_001241663.1:p.Ile215Thr NC_000020.11:2398017:T:C p.(Ile215Thr) NC_000020.11:2398017:T:C p.(Ile215Thr) NC_000020.11:2398017:T:C Identity +NM_000548.5:c.2152C>A NP_000539.2:p.Arg718Ser NC_000016.10:2072294:C:A p.(Arg718Ser) NC_000016.10:2072294:C:A p.(Arg718Ser) NC_000016.10:2072294:C:A Identity +NM_001369512.1:c.1906T>C NP_001356441.1:p.Ser636Pro NC_000017.11:42322476:A:G p.(Ser636Pro) NC_000017.11:42322476:A:G p.(Ser636Pro) NC_000017.11:42322476:A:G Identity +NM_021629.4:c.939_940del NP_067642.1:p.Asn313fs NC_000003.12:179401295:GG: p.(Asn313LysfsTer9) NC_000003.12:179401295:GG: p.(Asn313LysfsTer9) NC_000003.12:179401295:GG: Analogous +NM_006946.4:c.3731T>G NP_008877.2:p.Ile1244Ser NC_000011.10:66699450:A:C p.(Ile1244Ser) NC_000011.10:66699450:A:C p.(Ile1244Ser) NC_000011.10:66699450:A:C Identity +NM_000451.4:c.721T>C NP_000442.1:p.Phe241Leu NC_000024.10:644477:T:C p.(Phe241Leu) NC_000023.11:644477:T:C p.(Phe241Leu) ERR:CDS is undefined for NM_000451.4; this accession appears to be for a non-coding transcript Identity +NM_005477.3:c.529G>T NP_005468.1:p.Ala177Ser NC_000015.10:73367741:C:A p.(Ala177Ser) NC_000015.10:73367741:C:A p.(Ala177Ser) NC_000015.10:73367741:C:A Identity +NM_000530.8:c.303G>A NP_000521.2:p.Trp101Ter NC_000001.11:161306852:C:T p.(Trp101Ter) NC_000001.11:161306852:C:T p.(Trp101Ter) NC_000001.11:161306852:C:T Identity +NM_000069.3:c.2476T>A NP_000060.2:p.Ser826Thr NC_000001.11:201069485:A:T p.(Ser826Thr) NC_000001.11:201069485:A:T p.(Ser826Thr) NC_000001.11:201069485:A:T Identity +NM_001211.6:c.2030G>A NP_001202.5:p.Arg677His NC_000015.10:40208656:G:A p.(Arg677His) NC_000015.10:40208656:G:A p.(Arg677His) NC_000015.10:40208656:G:A Identity +NM_001365999.1:c.4898C>T NP_001352928.1:p.Ser1633Leu NC_000001.11:43431071:C:T p.(Ser1633Leu) NC_000001.11:43431071:C:T p.(Ser1633Leu) NC_000001.11:43431071:C:T Identity +NM_000545.8:c.944G>A NP_000536.6:p.Ser315Asn NC_000012.12:120994393:G:A p.(Ser315Asn) NC_000012.12:120994393:G:A p.(Ser315Asn) NC_000012.12:120994393:G:A Identity +NM_000495.5:c.1259G>T NP_000486.1:p.Gly420Val NC_000023.11:108591150:G:T p.(Gly420Val) NC_000023.11:108591150:G:T p.(Gly420Val) NC_000023.11:108591150:G:T Identity +NM_001036.6:c.592A>G NP_001027.3:p.Met198Val NC_000015.10:33540835:A:G p.(Met198Val) NC_000015.10:33540835:A:G p.(Met198Val) NC_000015.10:33540835:A:G Identity +NM_018129.4:c.323G>T NP_060599.1:p.Arg108Leu NC_000017.11:47944674:G:T p.(Arg108Leu) NC_000017.11:47944674:G:T p.(Arg108Leu) NC_000017.11:47944674:G:T Identity +NM_001256789.3:c.4471C>T NP_001243718.1:p.Arg1491Ter NC_000023.11:49210603:G:A p.(Arg1491Ter) NC_000023.11:49210603:G:A p.(Arg1491Ter) NC_000023.11:49210603:G:A Identity +LRG_1390t1:c.508A>T LRG_1390p1:p.Thr170Ser NC_000001.11:162755245:A:T ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found +NM_001171.6:c.790C>T NP_001162.5:p.Arg264Trp NC_000016.10:16208731:G:A p.(Arg264Trp) NC_000016.10:16208731:G:A p.(Arg264Trp) NC_000016.10:16208731:G:A Identity +NM_001193493.2:c.422G>A NP_001180422.1:p.Gly141Glu NC_000002.12:65018630:G:A p.(Gly141Glu) NC_000002.12:65018630:G:A p.(Gly141Glu) NC_000002.12:65018630:G:A Identity +NM_001288989.2:c.599C>T NP_001275918.1:p.Thr200Ile NC_000010.11:94031644:C:T p.(Thr200Ile) NC_000010.11:94031644:C:T p.(Thr200Ile) NC_000010.11:94031644:C:T Identity +NM_000445.5:c.7798C>A NP_000436.2:p.Leu2600Met NC_000008.11:143922103:G:T p.(Leu2600Met) NC_000008.11:143922103:G:T p.(Leu2600Met) NC_000008.11:143922103:G:T Identity +NM_001278055.2:c.11707T>C NP_001264984.1:p.Phe3903Leu NC_000013.11:23331727:A:G p.(Phe3903Leu) NC_000013.11:23331727:A:G p.(Phe3903Leu) NC_000013.11:23331727:A:G Identity +NM_001282145.2:c.1133A>G NP_001269074.1:p.Lys378Arg NC_000023.11:5903544:T:C p.(Lys378Arg) NC_000023.11:5903544:T:C p.(Lys378Arg) NC_000023.11:5903544:T:C Identity +NM_012452.3:c.572dup NP_036584.1:p.Asp191fs NC_000017.11:16940384:T:TT p.(Asp191GlufsTer46) NC_000017.11:16940384:T:TT p.(Asp191GlufsTer46) ERR:SPDI Analogous +NM_006231.4:c.467C>G NP_006222.2:p.Ser156Cys NC_000012.12:132679607:G:C p.(Ser156Cys) NC_000012.12:132679607:G:C p.(Ser156Cys) NC_000012.12:132679607:G:C Identity +NM_000026.4:c.550C>T NP_000017.1:p.Gln184Ter NC_000022.11:40358930:C:T p.(Gln184Ter) NC_000022.11:40358930:C:T p.(Gln184Ter) NC_000022.11:40358930:C:T Identity +NM_139058.3:c.1450C>T NP_620689.1:p.Leu484Phe NC_000023.11:25004908:G:A p.(Leu484Phe) NC_000023.11:25004908:G:A p.(Leu484Phe) NC_000023.11:25004908:G:A Identity +NM_018026.4:c.44G>C NP_060496.2:p.Gly15Ala NC_000011.10:66070529:G:C p.(Gly15Ala) NC_000011.10:66070529:G:C p.(Gly15Ala) NC_000011.10:66070529:G:C Identity +NM_001272003.2:c.481C>T NP_001258932.1:p.Arg161Cys NC_000009.12:135757179:C:T p.(Arg161Cys) NC_000009.12:135757179:C:T p.(Arg161Cys) NC_000009.12:135757179:C:T Identity +NM_001160227.2:c.202_203dup NP_001153699.1:p.Leu68fs NC_000015.10:44663444:AAA:AAAAA p.(Leu68PhefsTer2) NC_000015.10:44663444:AAA:AAAAA p.(Leu68PhefsTer2) ERR:SPDI Analogous +NM_033071.5:c.11810C>A NP_149062.2:p.Ala3937Asp NC_000006.12:152347113:G:T p.(Ala3937Asp) NC_000006.12:152347113:G:T p.(Ala3937Asp) NC_000006.12:152347113:G:T Identity +NM_001365999.1:c.7513C>T NP_001352928.1:p.Arg2505Cys NC_000001.11:43441504:C:T p.(Arg2505Cys) NC_000001.11:43441504:C:T p.(Arg2505Cys) NC_000001.11:43441504:C:T Identity +NM_020732.3:c.5099A>G NP_065783.3:p.Glu1700Gly NC_000006.12:157206239:A:G ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_001005336.3:c.415G>A NP_001005336.1:p.Gly139Arg NC_000009.12:128219077:G:A p.(Gly139Arg) NC_000009.12:128219077:G:A p.(Gly139Arg) NC_000009.12:128219077:G:A Identity +NM_017721.5:c.1095G>T NP_060191.3:p.Gln365His NC_000019.10:13918987:G:T p.(Gln365His) NC_000019.10:13918987:G:T p.(Gln365His) NC_000019.10:13918987:G:T Identity +NM_001170629.2:c.1573T>C NP_001164100.1:p.Ser525Pro NC_000014.9:21427896:A:G p.(Ser525Pro) NC_000014.9:21427896:A:G p.(Ser525Pro) NC_000014.9:21427896:A:G Identity +NM_015243.3:c.2048A>G NP_056058.2:p.Gln683Arg NC_000008.11:99156582:A:G p.(Gln683Arg) NC_000008.11:99156582:A:G p.(Gln683Arg) NC_000008.11:99156582:A:G Identity +NM_139058.3:c.1247C>G NP_620689.1:p.Ala416Gly NC_000023.11:25007311:G:C p.(Ala416Gly) NC_000023.11:25007311:G:C p.(Ala416Gly) NC_000023.11:25007311:G:C Identity +NM_021942.6:c.2093G>A NP_068761.4:p.Cys698Tyr NC_000004.12:183693002:G:A p.(Cys698Tyr) NC_000004.12:183693002:G:A p.(Cys698Tyr) NC_000004.12:183693002:G:A Identity +NM_017890.5:c.10631T>C NP_060360.3:p.Leu3544Ser NC_000008.11:99853944:T:C p.(Leu3544Ser) NC_000008.11:99853944:T:C p.(Leu3544Ser) NC_000008.11:99853944:T:C Identity +NM_001316690.1:c.2545A>G NP_001303619.1:p.Met849Val NC_000008.11:60865630:A:G p.(Met849Val) NC_000008.11:60865630:A:G p.(Met849Val) NC_000008.11:60865630:A:G Identity +NM_016219.5:c.1394A>G NP_057303.2:p.Tyr465Cys NC_000009.12:137106263:A:G p.(Tyr465Cys) NC_000009.12:137106263:A:G p.(Tyr465Cys) NC_000009.12:137106263:A:G Identity +NM_000329.3:c.203A>C NP_000320.1:p.His68Pro NC_000001.11:68446751:T:G p.(His68Pro) NC_000001.11:68446751:T:G p.(His68Pro) NC_000001.11:68446751:T:G Identity +NM_001145079.2:c.1138CTC[1] NP_001138551.1:p.Leu381del NC_000013.11:39694696:CTCCTC:CTC p.(Leu381del) NC_000013.11:39694696:C:CTC ERR:Parse ERR:Parse Identity +NM_001365999.1:c.4343G>A NP_001352928.1:p.Arg1448His NC_000001.11:43430044:G:A p.(Arg1448His) NC_000001.11:43430044:G:A p.(Arg1448His) NC_000001.11:43430044:G:A Identity +NM_000263.4:c.534_535del NP_000254.2:p.Tyr179fs NC_000017.11:42538338:GTGT:GT p.(Tyr179ProfsTer12) NC_000017.11:42538338:GTGT:GT p.(Tyr179ProfsTer12) NC_000017.11:42538340:GT: Analogous +NM_001144996.2:c.2194del NP_001138468.1:p.Ala732fs NC_000012.12:55694791:CCC:CC p.(Ala732ProfsTer27) NC_000012.12:55694791:CCC:CC p.(Ala732ProfsTer27) NC_000012.12:55694791:C: Analogous +NM_001256182.2:c.6232G>C NP_001243111.1:p.Asp2078His NC_000016.10:89280309:C:G p.(Asp2078His) NC_000016.10:89280309:C:G p.(Asp2078His) NC_000016.10:89280309:C:G Identity +NM_001371656.1:c.591GCA[6] NP_001358585.1:p.Gln214del NC_000006.12:156778268:CAGCAGCAGCAGCAGCAGCAGCA:CAGCAGCAGCAGCAGCAGCA p.(Gln214del) NC_000006.12:156778270:G:GCAGCAGCAGCAGCAGCA ERR:Parse ERR:Parse Identity +NM_001365999.1:c.3251C>T NP_001352928.1:p.Pro1084Leu NC_000001.11:43426750:C:T p.(Pro1084Leu) NC_000001.11:43426750:C:T p.(Pro1084Leu) NC_000001.11:43426750:C:T Identity +NM_032833.5:c.25C>G NP_116222.4:p.Arg9Gly NC_000001.11:204411386:G:C p.(Arg9Gly) NC_000001.11:204411386:G:C p.(Arg9Gly) NC_000001.11:204411386:G:C Identity +NM_001080414.4:c.5251G>A NP_001073883.2:p.Val1751Ile NC_000014.9:91273460:C:T p.(Val1751Ile) NC_000014.9:91273460:C:T p.(Val1751Ile) NC_000014.9:91273460:C:T Identity +NM_003793.4:c.1253G>A NP_003784.2:p.Arg418His NC_000011.10:66564625:C:T p.(Arg418His) NC_000011.10:66564625:C:T p.(Arg418His) NC_000011.10:66564625:C:T Identity +NM_172108.5:c.873G>C NP_742106.1:p.Arg291Ser NC_000020.11:63439651:C:G p.(Arg291Ser) NC_000020.11:63439651:C:G p.(Arg291Ser) NC_000020.11:63439651:C:G Identity +NM_001353899.1:c.1037C>T NP_001340828.1:p.Ala346Val NC_000018.10:47069550:C:T p.(Ala346Val) NC_000018.10:47069550:C:T p.(Ala346Val) NC_000018.10:47069550:C:T Identity +NM_024496.4:c.1259T>C NP_078772.1:p.Phe420Ser NC_000014.9:77026533:A:G p.(Phe420Ser) NC_000014.9:77026533:A:G p.(Phe420Ser) NC_000014.9:77026533:A:G Identity +NM_001256182.2:c.3584G>A NP_001243111.1:p.Arg1195Lys NC_000016.10:89282957:C:T p.(Arg1195Lys) NC_000016.10:89282957:C:T p.(Arg1195Lys) NC_000016.10:89282957:C:T Identity +NM_001040616.3:c.267G>A NP_001035706.2:p.Met89Ile NC_000015.10:100580575:C:T p.(Met89Ile) NC_000015.10:100580575:C:T p.(Met89Ile) NC_000015.10:100580575:C:T Identity +NM_000378.6:c.541C>A NP_000369.4:p.Arg181Ser NC_000011.10:32434819:G:T p.(Arg181Ser) NC_000011.10:32434819:G:T p.(Arg181Ser) NC_000011.10:32434819:G:T Identity +NM_001493.3:c.383C>G NP_001484.1:p.Ala128Gly NC_000023.11:154439134:C:G p.(Ala128Gly) NC_000023.11:154439134:C:G p.(Ala128Gly) NC_000023.11:154439134:C:G Identity +NM_000426.4:c.391C>T NP_000417.3:p.Gln131Ter NC_000006.12:129059890:C:T p.(Gln131Ter) NC_000006.12:129059890:C:T p.(Gln131Ter) NC_000006.12:129059890:C:T Identity +NM_001256182.2:c.6746G>A NP_001243111.1:p.Arg2249His NC_000016.10:89279795:C:T p.(Arg2249His) NC_000016.10:89279795:C:T p.(Arg2249His) NC_000016.10:89279795:C:T Identity +NM_173354.5:c.2209G>A NP_775490.2:p.Gly737Ser NC_000021.9:43416884:C:T p.(Gly737Ser) NC_000021.9:43416884:C:T p.(Gly737Ser) NC_000021.9:43416884:C:T Identity +NM_002547.3:c.2062G>T NP_002538.1:p.Ala688Ser NC_000023.11:68063949:C:A p.(Ala688Ser) NC_000023.11:68063949:C:A p.(Ala688Ser) NC_000023.11:68063949:C:A Identity +NM_000495.5:c.4708C>G NP_000486.1:p.Pro1570Ala NC_000023.11:108694825:C:G p.(Pro1570Ala) NC_000023.11:108694825:C:G p.(Pro1570Ala) NC_000023.11:108694825:C:G Identity +NM_002087.4:c.1448C>T NP_002078.1:p.Pro483Leu NC_000017.11:44352374:C:T p.(Pro483Leu) NC_000017.11:44352374:C:T p.(Pro483Leu) NC_000017.11:44352374:C:T Identity +NM_000296.4:c.3247_3253del NP_000287.4:p.Ala1083fs NC_000016.10:2112381:CCTGGGCC:C p.(Ala1083CysfsTer19) NC_000016.10:2112381:CCTGGGCC:C p.(Ala1083CysfsTer19) NC_000016.10:2112381:CCTGGGC: Analogous +NM_001165979.2:c.1862G>C NP_001159451.1:p.Ser621Thr NC_000010.11:94246310:G:C p.(Ser621Thr) NC_000010.11:94246310:G:C p.(Ser621Thr) NC_000010.11:94246310:G:C Identity +NM_000458.4:c.544C>T NP_000449.1:p.Gln182Ter NC_000017.11:37739439:G:A p.(Gln182Ter) NC_000017.11:37739439:G:A p.(Gln182Ter) NC_000017.11:37739439:G:A Identity +NM_002160.4:c.5341G>A NP_002151.2:p.Ala1781Thr NC_000009.12:115040991:C:T p.(Ala1781Thr) NC_000009.12:115040991:C:T p.(Ala1781Thr) NC_000009.12:115040991:C:T Identity +NM_001394062.1:c.20293G>C NP_001380991.1:p.Gly6765Arg NC_000001.11:39451085:G:C p.(Gly6765Arg) NC_000001.11:39451085:G:C p.(Gly6765Arg) NC_000001.11:39451085:G:C Identity +NM_001039130.2:c.1295G>A NP_001034219.1:p.Arg432Gln NC_000017.11:8047000:G:A p.(Arg432Gln) NC_000017.11:8047000:G:A p.(Arg432Gln) NC_000017.11:8047000:G:A Identity +NM_020717.5:c.3955G>A NP_065768.2:p.Glu1319Lys NC_000023.11:50598522:C:T p.(Glu1319Lys) NC_000023.11:50598522:C:T p.(Glu1319Lys) NC_000023.11:50598522:C:T Identity +NM_001354764.2:c.397C>T NP_001341693.1:p.Arg133Trp NC_000003.12:124841441:G:A p.(Arg133Trp) NC_000003.12:124841441:G:A p.(Arg133Trp) NC_000003.12:124841441:G:A Identity +LRG_1235t1:c.716dup LRG_1235p1:p.Met240fs NC_000002.12:162306761:CCCC:CCCCC ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found +NM_001160372.4:c.3013C>A NP_001153844.1:p.Gln1005Lys NC_000008.11:139885920:G:T p.(Gln1005Lys) NC_000008.11:139885920:G:T p.(Gln1005Lys) NC_000008.11:139885920:G:T Identity +NM_001199107.2:c.381C>A NP_001186036.1:p.Asp127Glu NC_000016.10:2496528:C:A p.(Asp127Glu) NC_000016.10:2496528:C:A p.(Asp127Glu) NC_000016.10:2496528:C:A Identity +NM_001032221.6:c.948G>A NP_001027392.1:p.Met316Ile NC_000009.12:127669942:G:A p.(Met316Ile) NC_000009.12:127669942:G:A p.(Met316Ile) NC_000009.12:127669942:G:A Identity +NM_001172766.3:c.517C>A NP_001166237.1:p.Gln173Lys NC_000007.14:114629924:C:A p.(Gln173Lys) NC_000007.14:114629924:C:A p.(Gln173Lys) NC_000007.14:114629924:C:A Identity +NM_001372044.2:c.3742G>A NP_001358973.1:p.Ala1248Thr NC_000022.11:50721349:G:A ERR:TranscriptMismatch:expected G, found A at transcript indices 4111..4112 NC_000022.11:50721388:A:A ERR:NM_001372044.2:c.3742G>A: Variant reference (G) does not agree with reference sequence (A) ERR:NM_001372044.2:c.3742G>A: Variant reference (G) does not agree with reference sequence (A) Unknown +NM_016219.5:c.514C>T NP_057303.2:p.Pro172Ser NC_000009.12:137096284:C:T p.(Pro172Ser) NC_000009.12:137096284:C:T p.(Pro172Ser) NC_000009.12:137096284:C:T Identity +NM_005120.3:c.4832G>A NP_005111.2:p.Arg1611His NC_000023.11:71134816:G:A p.(Arg1611His) NC_000023.11:71134816:G:A p.(Arg1611His) NC_000023.11:71134816:G:A Identity +NM_006593.4:c.227G>A NP_006584.1:p.Gly76Glu NC_000002.12:161416636:G:A p.(Gly76Glu) NC_000002.12:161416636:G:A p.(Gly76Glu) NC_000002.12:161416636:G:A Identity +NM_001371656.1:c.2444C>A NP_001358585.1:p.Pro815Gln NC_000006.12:157084818:C:A p.(Pro815Gln) NC_000006.12:157084818:C:A p.(Pro815Gln) NC_000006.12:157084818:C:A Identity +NM_001347721.2:c.1564C>T NP_001334650.1:p.Pro522Ser NC_000021.9:37506142:C:T p.(Pro522Ser) NC_000021.9:37506142:C:T p.(Pro522Ser) NC_000021.9:37506142:C:T Identity +NM_000368.5:c.1679G>A NP_000359.1:p.Gly560Asp NC_000009.12:132905898:C:T p.(Gly560Asp) NC_000009.12:132905898:C:T p.(Gly560Asp) NC_000009.12:132905898:C:T Identity +NM_173495.3:c.836T>C NP_775766.2:p.Val279Ala NC_000023.11:23380074:T:C p.(Val279Ala) NC_000023.11:23380074:T:C p.(Val279Ala) NC_000023.11:23380074:T:C Identity +NM_017721.5:c.865G>A NP_060191.3:p.Val289Met NC_000019.10:13918185:G:A p.(Val289Met) NC_000019.10:13918185:G:A p.(Val289Met) NC_000019.10:13918185:G:A Identity +NM_000833.5:c.1738A>G NP_000824.1:p.Ser580Gly NC_000016.10:9834143:T:C p.(Ser580Gly) NC_000016.10:9834143:T:C p.(Ser580Gly) NC_000016.10:9834143:T:C Identity +NM_006766.5:c.3010A>G NP_006757.2:p.Ile1004Val NC_000008.11:41940870:T:C p.(Ile1004Val) NC_000008.11:41940870:T:C p.(Ile1004Val) NC_000008.11:41940870:T:C Identity +NM_001194937.2:c.1781C>G NP_001181866.1:p.Ser594Cys NC_000001.11:151411742:G:C p.(Ser594Cys) NC_000001.11:151411742:G:C p.(Ser594Cys) NC_000001.11:151411742:G:C Identity +NM_198270.4:c.1660A>G NP_938011.1:p.Lys554Glu NC_000023.11:17725828:A:G p.(Lys554Glu) NC_000023.11:17725828:A:G p.(Lys554Glu) NC_000023.11:17725828:A:G Identity +NM_005120.3:c.6443A>G NP_005111.2:p.Gln2148Arg NC_000023.11:71141916:A:G p.(Gln2148Arg) NC_000023.11:71141916:A:G p.(Gln2148Arg) NC_000023.11:71141916:A:G Identity +NM_030665.4:c.1979G>A NP_109590.3:p.Arg660Gln NC_000017.11:17794926:G:A p.(Arg660Gln) NC_000017.11:17794926:G:A p.(Arg660Gln) NC_000017.11:17794926:G:A Identity +NM_001130066.2:c.3407C>T NP_001123538.1:p.Ala1136Val NC_000006.12:33444483:C:T p.(Ala1136Val) NC_000006.12:33444483:C:T p.(Ala1136Val) NC_000006.12:33444483:C:T Identity +NM_000816.3:c.41A>G NP_000807.2:p.Tyr14Cys NC_000005.10:162068039:A:G p.(Tyr14Cys) NC_000005.10:162068039:A:G p.(Tyr14Cys) NC_000005.10:162068039:A:G Identity +NM_014141.6:c.3558G>C NP_054860.1:p.Gln1186His NC_000007.14:148383730:G:C p.(Gln1186His) NC_000007.14:148383730:G:C p.(Gln1186His) NC_000007.14:148383730:G:C Identity +NM_001141973.3:c.794C>G NP_001135445.1:p.Ser265Cys NC_000001.11:17000430:G:C p.(Ser265Cys) NC_000001.11:17000430:G:C p.(Ser265Cys) NC_000001.11:17000430:G:C Identity +NM_001182.5:c.452T>C NP_001173.2:p.Val151Ala NC_000005.10:126582915:A:G p.(Val151Ala) NC_000005.10:126582915:A:G p.(Val151Ala) NC_000005.10:126582915:A:G Identity +NM_001012511.3:c.364G>A NP_001012529.1:p.Glu122Lys NC_000017.11:46935055:G:A p.(Glu122Lys) NC_000017.11:46935055:G:A p.(Glu122Lys) NC_000017.11:46935055:G:A Identity +NM_001042572.3:c.674G>A NP_001036037.1:p.Arg225Lys NC_000015.10:92939699:G:A p.(Arg225Lys) NC_000015.10:92939699:G:A p.(Arg225Lys) NC_000015.10:92939699:G:A Identity +NM_000806.5:c.1105G>A NP_000797.2:p.Ala369Thr NC_000005.10:161897155:G:A p.(Ala369Thr) NC_000005.10:161897155:G:A p.(Ala369Thr) NC_000005.10:161897155:G:A Identity +NM_001182.5:c.947dup NP_001173.2:p.Ser317fs NC_000005.10:126559300:GG:GGG p.(Ser317IlefsTer24) NC_000005.10:126559300:GG:GGG p.(Ser317IlefsTer24) ERR:SPDI Analogous +NM_000540.3:c.4217C>T NP_000531.2:p.Thr1406Met NC_000019.10:38475373:C:T p.(Thr1406Met) NC_000019.10:38475373:C:T p.(Thr1406Met) NC_000019.10:38475373:C:T Identity +NM_004518.6:c.839A>G NP_004509.2:p.Tyr280Cys NC_000020.11:63439685:T:C p.(Tyr280Cys) NC_000020.11:63439685:T:C p.(Tyr280Cys) NC_000020.11:63439685:T:C Identity +NM_001365999.1:c.8137G>A NP_001352928.1:p.Val2713Met NC_000001.11:43442603:G:A p.(Val2713Met) NC_000001.11:43442603:G:A p.(Val2713Met) NC_000001.11:43442603:G:A Identity +NM_001105243.2:c.3296T>C NP_001098713.1:p.Ile1099Thr NC_000023.11:100296286:A:G p.(Ile1099Thr) NC_000023.11:100296286:A:G p.(Ile1099Thr) NC_000023.11:100296286:A:G Identity +NM_001037343.2:c.1579C>T NP_001032420.1:p.Pro527Ser NC_000023.11:18604502:C:T p.(Pro527Ser) NC_000023.11:18604502:C:T p.(Pro527Ser) NC_000023.11:18604502:C:T Identity +LRG_766t1:c.9473T>G LRG_766p1:p.Leu3158Arg NC_000019.10:38515025:T:G ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_766t1 not found +NM_001013406.2:c.970C>T NP_001013424.1:p.Gln324Ter NC_000007.14:92226557:G:A p.(Gln324Ter) NC_000007.14:92226557:G:A p.(Gln324Ter) NC_000007.14:92226557:G:A Identity +NM_000323.2:c.1276_1277TG[2] NP_000314.1:p.Val427Glyfs NC_000010.11:43111218:TGTGTG:TGTG ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_017570.5:c.82G>A NP_060040.1:p.Gly28Arg NC_000008.11:144059950:C:T p.(Gly28Arg) NC_000008.11:144059950:C:T p.(Gly28Arg) NC_000008.11:144059950:C:T Identity +NM_000052.7:c.15G>A NP_000043.4:p.Met5Ile NC_000023.11:77971655:G:A p.(Met5Ile) NC_000023.11:77971655:G:A p.(Met5Ile) NC_000023.11:77971655:G:A Identity +NM_000052.7:c.3632G>A NP_000043.4:p.Arg1211Gln NC_000023.11:78038955:G:A p.(Arg1211Gln) NC_000023.11:78038955:G:A p.(Arg1211Gln) NC_000023.11:78038955:G:A Identity +NM_000540.3:c.13597AAG[1] NP_000531.2:p.Lys4534del NC_000019.10:38567854:AAGAAG:AAG p.(Lys4534del) NC_000019.10:38567854:A:AAG ERR:Parse ERR:Parse Identity +NM_000540.3:c.8104T>C NP_000531.2:p.Cys2702Arg NC_000019.10:38504783:T:C p.(Cys2702Arg) NC_000019.10:38504783:T:C p.(Cys2702Arg) NC_000019.10:38504783:T:C Identity +NM_001013406.2:c.899C>T NP_001013424.1:p.Pro300Leu NC_000007.14:92226628:G:A p.(Pro300Leu) NC_000007.14:92226628:G:A p.(Pro300Leu) NC_000007.14:92226628:G:A Identity +NM_001350671.1:c.258del NP_001337600.1:p.Ile87fs NC_000007.14:92234465:GGG:GG p.(Ile87PhefsTer17) NC_000007.14:92234465:GGG:GG p.(Ile87PhefsTer17) NC_000007.14:92234465:G: Analogous +NM_001281737.2:c.845A>G NP_001268666.1:p.Tyr282Cys NC_000004.12:158698999:A:G p.(Tyr282Cys) NC_000004.12:158698999:A:G p.(Tyr282Cys) NC_000004.12:158698999:A:G Identity +NM_001282225.2:c.393del NP_001269154.1:p.Arg131fs NC_000022.11:17207219:CC:C p.(Arg131SerfsTer53) NC_000022.11:17207219:CC:C p.(Arg131SerfsTer53) NC_000022.11:17207219:C: Analogous +NM_001171937.2:c.742dup NP_001165408.1:p.Arg248fs NC_000019.10:49808759:GGGG:GGGGG p.(Arg248ProfsTer36) NC_000019.10:49808759:GGGG:GGGGG p.(Arg248ProfsTer36) ERR:SPDI Analogous +NM_001079515.3:c.841C>T NP_001072983.1:p.Gln281Ter NC_000001.11:235436392:C:T p.(Gln281Ter) NC_000001.11:235436392:C:T p.(Gln281Ter) NC_000001.11:235436392:C:T Identity +NM_000540.3:c.13919T>G NP_000531.2:p.Met4640Arg NC_000019.10:38572190:T:G p.(Met4640Arg) NC_000019.10:38572190:T:G p.(Met4640Arg) NC_000019.10:38572190:T:G Identity +NM_000540.3:c.5479C>T NP_000531.2:p.Arg1827Cys NC_000019.10:38486133:C:T p.(Arg1827Cys) NC_000019.10:38486133:C:T p.(Arg1827Cys) NC_000019.10:38486133:C:T Identity +LRG_766t1:c.7543C>T LRG_766p1:p.Gln2515Ter NC_000019.10:38500918:C:T ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_766t1 not found +NM_000540.3:c.4361C>T NP_000531.2:p.Pro1454Leu NC_000019.10:38477776:C:T p.(Pro1454Leu) NC_000019.10:38477776:C:T p.(Pro1454Leu) NC_000019.10:38477776:C:T Identity +NM_000540.3:c.4478T>G NP_000531.2:p.Met1493Arg NC_000019.10:38478457:T:G p.(Met1493Arg) NC_000019.10:38478457:T:G p.(Met1493Arg) NC_000019.10:38478457:T:G Identity +LRG_766t1:c.7925A>G LRG_766p1:p.Lys2642Arg NC_000019.10:38502968:A:G ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_766t1 not found +NM_001029835.2:c.232_235del NP_001025006.1:p.Arg78fs NC_000007.14:45038385:CAGACAGAC:CAGAC p.(Arg78CysfsTer2) NC_000007.14:45038385:CAGACAGAC:CAGAC p.(Arg78CysfsTer2) NC_000007.14:45038390:AGAC: Analogous +NM_018646.6:c.1352G>A NP_061116.5:p.Gly451Glu NC_000007.14:142874957:C:T p.(Gly451Glu) NC_000007.14:142874957:C:T p.(Gly451Glu) NC_000007.14:142874957:C:T Identity +NM_001199397.3:c.1293_1296dup NP_001186326.1:p.Ala433fs NC_000004.12:169556065:TATA:TATATATA p.(Ala433TyrfsTer13) NC_000004.12:169556065:TATA:TATATATA p.(Ala433TyrfsTer13) ERR:SPDI Analogous +NM_020401.4:c.2176C>T NP_065134.1:p.Gln726Ter NC_000012.12:68733525:C:T p.(Gln726Ter) NC_000012.12:68733525:C:T p.(Gln726Ter) NC_000012.12:68733525:C:T Identity +NM_000508.5:c.193C>A NP_000499.1:p.Pro65Thr NC_000004.12:154588963:G:T p.(Pro65Thr) NC_000004.12:154588963:G:T p.(Pro65Thr) NC_000004.12:154588963:G:T Identity +NM_001178057.2:c.451C>T NP_001171528.1:p.Gln151Ter NC_000017.11:63486670:C:T p.(Gln151Ter) NC_000017.11:63486670:C:T p.(Gln151Ter) NC_000017.11:63486670:C:T Identity +NM_001252204.2:c.2539G>T NP_001239133.1:p.Glu847Ter NC_000006.12:31994330:G:T p.(Glu847Ter) NC_000006.12:31994330:G:T p.(Glu847Ter) NC_000006.12:31994330:G:T Identity +NM_025114.4:c.2738_2742del NP_079390.3:p.Glu913fs NC_000012.12:88106749:ATTTT: p.(Glu913GlyfsTer6) NC_000012.12:88106749:ATTTT: p.(Glu913GlyfsTer6) NC_000012.12:88106749:ATTTT: Analogous +NM_001009999.3:c.360C>G NP_001009999.1:p.Tyr120Ter NC_000001.11:23030476:C:G p.(Tyr120Ter) NC_000001.11:23030476:C:G p.(Tyr120Ter) NC_000001.11:23030476:C:G Identity +NM_020451.3:c.455G>T NP_065184.2:p.Ser152Ile NC_000001.11:25805192:G:T p.(Ser152Ile) NC_000001.11:25805192:G:T p.? NC_000001.11:25805192:G:T Identity +NM_138694.4:c.1565C>T NP_619639.3:p.Ser522Phe NC_000006.12:52056926:G:A p.(Ser522Phe) NC_000006.12:52056926:G:A p.(Ser522Phe) NC_000006.12:52056926:G:A Identity +NM_000050.4:c.1196T>G NP_000041.2:p.Leu399Arg NC_000009.12:130500977:T:G p.(Leu399Arg) NC_000009.12:130500977:T:G p.(Leu399Arg) NC_000009.12:130500977:T:G Identity +NM_001080463.2:c.11872_11873delinsAA NP_001073932.1:p.Ser3958Lys NC_000011.10:103321153:TC:AA p.(Ser3958Lys) NC_000011.10:103321153:TC:AA p.(Ser3958Lys) NC_000011.10:103321153:TC:AA Identity +NM_000053.4:c.811T>C NP_000044.2:p.Cys271Arg NC_000013.11:51974408:A:G p.(Cys271Arg) NC_000013.11:51974408:A:G p.(Cys271Arg) NC_000013.11:51974408:A:G Identity +NM_000255.4:c.833C>T NP_000246.2:p.Ala278Val NC_000006.12:49456157:G:A p.(Ala278Val) NC_000006.12:49456157:G:A p.(Ala278Val) NC_000006.12:49456157:G:A Identity +NM_178170.3:c.133C>T NP_835464.1:p.Arg45Trp NC_000017.11:28734067:C:T p.(Arg45Trp) NC_000017.11:28734067:C:T p.(Arg45Trp) NC_000017.11:28734067:C:T Identity +NM_006412.4:c.557A>C NP_006403.2:p.Lys186Thr NC_000009.12:136676615:T:G p.(Lys186Thr) NC_000009.12:136676615:T:G p.(Lys186Thr) NC_000009.12:136676615:T:G Identity +NM_001256560.2:c.146T>G NP_001243489.1:p.Ile49Ser NC_000003.12:58208301:A:C p.(Ile49Ser) NC_000003.12:58208301:A:C p.(Ile49Ser) NC_000003.12:58208301:A:C Identity +NM_001318889.2:c.411_413delinsAAT NP_001305818.1:p.Thr138Ile NC_000003.12:111545394:GAC:AAT p.(Thr138Ile) NC_000003.12:111545394:GAC:AAT p.(Thr138Ile) NC_000003.12:111545394:GAC:AAT Identity +NM_001081.4:c.10192_10193del NP_001072.2:p.Asp3398fs NC_000010.11:16835182:TCTCT:TCT p.(Asp3398LeufsTer16) NC_000010.11:16835182:TCTCT:TCT p.(Asp3398LeufsTer16) NC_000010.11:16835182:TC: Analogous +NM_000452.3:c.730C>A NP_000443.2:p.Leu244Met NC_000013.11:103051287:G:T p.(Leu244Met) NC_000013.11:103051287:G:T p.(Leu244Met) NC_000013.11:103051287:G:T Identity +NM_001272003.2:c.2915T>C NP_001258932.1:p.Leu972Pro NC_000009.12:135784782:T:C p.(Leu972Pro) NC_000009.12:135784782:T:C p.(Leu972Pro) NC_000009.12:135784782:T:C Identity +NM_001848.3:c.790G>A NP_001839.2:p.Asp264Asn NC_000021.9:45987639:G:A p.(Asp264Asn) NC_000021.9:45987639:G:A p.(Asp264Asn) NC_000021.9:45987639:G:A Identity +NM_000334.4:c.1946T>C NP_000325.4:p.Ile649Thr NC_000017.11:63959337:A:G p.(Ile649Thr) NC_000017.11:63959337:A:G p.(Ile649Thr) NC_000017.11:63959337:A:G Identity +NM_001129765.2:c.901T>C NP_001123237.1:p.Tyr301His NC_000023.11:152868894:T:C p.(Tyr301His) NC_000023.11:152868894:T:C p.(Tyr301His) NC_000023.11:152868894:T:C Identity +NM_001354927.2:c.142C>T NP_001341856.1:p.Arg48Cys NC_000009.12:35067915:G:A p.(Arg48Cys) NC_000009.12:35067915:G:A p.(Arg48Cys) NC_000009.12:35067915:G:A Identity +NM_001297764.2:c.105G>C NP_001284693.1:p.Gln35His NC_000011.10:17531541:C:G p.(Gln35His) NC_000011.10:17531541:C:G p.(Gln35His) NC_000011.10:17531541:C:G Identity +NM_001194937.2:c.1021dup NP_001181866.1:p.Arg341fs NC_000001.11:151427852:TTT:TTTT p.(Arg341LysfsTer6) NC_000001.11:151427852:TTT:TTTT p.(Arg341LysfsTer6) ERR:SPDI Analogous +NM_005236.3:c.1553_1554del NP_005227.1:p.Ile518fs NC_000016.10:13935483:ATA:A p.(Ile518LysfsTer3) NC_000016.10:13935483:ATA:A p.(Ile518LysfsTer3) NC_000016.10:13935484:TA: Analogous +NM_000403.4:c.658C>T NP_000394.2:p.Arg220Trp NC_000001.11:23796926:G:A p.(Arg220Trp) NC_000001.11:23796926:G:A p.(Arg220Trp) NC_000001.11:23796926:G:A Identity +NM_033071.5:c.19473G>C NP_149062.2:p.Lys6491Asn NC_000006.12:152244542:C:G p.(Lys6491Asn) NC_000006.12:152244542:C:G p.(Lys6491Asn) NC_000006.12:152244542:C:G Identity +NM_001061.7:c.623C>G NP_001052.3:p.Pro208Arg NC_000007.14:139955541:C:G p.(Pro208Arg) NC_000007.14:139955541:C:G p.(Pro208Arg) NC_000007.14:139955541:C:G Identity +NM_019066.5:c.367C>G NP_061939.3:p.Pro123Ala NC_000015.10:23647375:G:C p.(Pro123Ala) NC_000015.10:23647375:G:C p.(Pro123Ala) NC_000015.10:23647375:G:C Identity +NM_138694.4:c.10252G>A NP_619639.3:p.Ala3418Thr NC_000006.12:51659873:C:T p.(Ala3418Thr) NC_000006.12:51659873:C:T p.(Ala3418Thr) NC_000006.12:51659873:C:T Identity +NM_001165963.4:c.1092C>A NP_001159435.1:p.Ser364Arg NC_000002.12:166047704:G:T p.(Ser364Arg) NC_000002.12:166047704:G:T p.(Ser364Arg) NC_000002.12:166047704:G:T Identity +NM_000124.4:c.2293T>C NP_000115.1:p.Phe765Leu NC_000010.11:49476303:A:G p.(Phe765Leu) NC_000010.11:49476303:A:G p.(Phe765Leu) NC_000010.11:49476303:A:G Identity +NM_052844.4:c.1489_1490insCAGCA NP_443076.2:p.Leu497fs NC_000009.12:128633865::TGCTG p.(Leu497ProfsTer13) NC_000009.12:128633864:A:TGCTG p.(Leu497ProfsTer13) NC_000009.12:128633865:AG:TGCTG Analogous +NM_001007027.3:c.851A>G NP_001007028.1:p.Asn284Ser NC_000011.10:78112696:T:C p.(Asn284Ser) NC_000011.10:78112696:T:C p.(Asn284Ser) NC_000011.10:78112696:T:C Identity +NM_001142301.1:c.2459T>G NP_001135773.1:p.Leu820Arg NC_000008.11:93809824:T:G p.(Leu820Arg) NC_000008.11:93809824:T:G p.(Leu820Arg) NC_000008.11:93809824:T:G Identity +LRG_1208t1:c.1792A>G LRG_1208p1:p.Met598Val NC_000010.11:99808205:A:G ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_002238.4:c.675G>T NP_002229.1:p.Leu225Phe NC_000001.11:211019139:C:A p.(Leu225Phe) NC_000001.11:211019139:C:A p.(Leu225Phe) NC_000001.11:211019139:C:A Identity +NM_000135.4:c.3586G>T NP_000126.2:p.Glu1196Ter NC_000016.10:89744998:C:A p.(Glu1196Ter) NC_000016.10:89744998:C:A p.(Glu1196Ter) NC_000016.10:89744998:C:A Identity +NM_000271.5:c.1140_1141del NP_000262.2:p.Trp381fs NC_000018.10:23556427:AGAG:AG p.(Trp381ValfsTer15) NC_000018.10:23556427:AGAG:AG p.(Trp381ValfsTer15) NC_000018.10:23556427:AG: Analogous +NM_033071.5:c.12772G>A NP_149062.2:p.Glu4258Lys NC_000006.12:152331699:C:T p.(Glu4258Lys) NC_000006.12:152331699:C:T p.(Glu4258Lys) NC_000006.12:152331699:C:T Identity +NM_015102.5:c.1006G>C NP_055917.1:p.Ala336Pro NC_000001.11:5947216:C:G p.(Ala336Pro) NC_000001.11:5947216:C:G p.(Ala336Pro) NC_000001.11:5947216:C:G Identity +NM_001371986.1:c.4141C>G NP_001358915.1:p.Pro1381Ala NC_000002.12:209888124:C:G p.(Pro1381Ala) NC_000002.12:209888124:C:G p.(Pro1381Ala) NC_000002.12:209888124:C:G Identity +NM_000310.4:c.271C>G NP_000301.1:p.Gln91Glu NC_000001.11:40092135:G:C p.(Gln91Glu) NC_000001.11:40092135:G:C p.(Gln91Glu) NC_000001.11:40092135:G:C Identity +NM_000109.4:c.3602A>G NP_000100.3:p.Gln1201Arg NC_000023.11:32448615:T:C p.(Gln1201Arg) NC_000023.11:32448615:T:C p.(Gln1201Arg) NC_000023.11:32448615:T:C Identity +NM_001354663.2:c.615G>T NP_001341592.1:p.Lys205Asn NC_000003.12:193638064:G:T p.(Lys205Asn) NC_000003.12:193638064:G:T p.(Lys205Asn) NC_000003.12:193638064:G:T Identity +NM_000531.6:c.470T>C NP_000522.3:p.Ile157Thr NC_000023.11:38401357:T:C p.(Ile157Thr) NC_000023.11:38401357:T:C p.(Ile157Thr) NC_000023.11:38401357:T:C Identity +NM_001349896.1:c.1309C>T NP_001336825.1:p.His437Tyr NC_000022.11:26464320:G:A p.(His437Tyr) NC_000022.11:26464320:G:A p.(His437Tyr) NC_000022.11:26464320:G:A Identity +LRG_1208t1:c.2729G>A LRG_1208p1:p.Arg910His NC_000010.11:99830414:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_000157.4:c.669G>T NP_000148.2:p.Trp223Cys NC_000001.11:155238225:C:A p.(Trp223Cys) NC_000001.11:155238225:C:A p.(Trp223Cys) NC_000001.11:155238225:C:A Identity +NM_000329.3:c.449A>G NP_000320.1:p.Asn150Ser NC_000001.11:68444576:T:C p.(Asn150Ser) NC_000001.11:68444576:T:C p.(Asn150Ser) NC_000001.11:68444576:T:C Identity +NM_001318860.2:c.301G>T NP_001305789.1:p.Val101Phe NC_000002.12:73957124:G:T p.(Val101Phe) NC_000002.12:73957124:G:T p.(Val101Phe) NC_000002.12:73957124:G:T Identity +NM_001369870.1:c.3247A>G NP_001356799.1:p.Ile1083Val NC_000009.12:69252814:A:G p.(Ile1083Val) NC_000009.12:69252814:A:G p.(Ile1083Val) NC_000009.12:69252814:A:G Identity +NM_153240.5:c.276G>C NP_694972.3:p.Glu92Asp NC_000003.12:132722079:C:G p.(Glu92Asp) NC_000003.12:132722079:C:G p.(Glu92Asp) NC_000003.12:132722079:C:G Identity +NM_001195610.2:c.817C>T NP_001182539.1:p.Pro273Ser NC_000006.12:24278153:G:A p.(Pro273Ser) NC_000006.12:24278153:G:A p.(Pro273Ser) NC_000006.12:24278153:G:A Identity +NM_000452.3:c.632T>C NP_000443.2:p.Val211Ala NC_000013.11:103051385:A:G p.(Val211Ala) NC_000013.11:103051385:A:G p.(Val211Ala) NC_000013.11:103051385:A:G Identity +NM_025193.4:c.1097G>C NP_079469.2:p.Gly366Ala NC_000016.10:30988169:G:C p.(Gly366Ala) NC_000016.10:30988169:G:C p.(Gly366Ala) NC_000016.10:30988169:G:C Identity +NM_144665.4:c.161C>G NP_653266.2:p.Thr54Arg NC_000011.10:95191584:G:C p.(Thr54Arg) NC_000011.10:95191584:G:C p.(Thr54Arg) NC_000011.10:95191584:G:C Identity +NM_003049.4:c.106T>C NP_003040.1:p.Phe36Leu NC_000014.9:69797049:A:G p.(Phe36Leu) NC_000014.9:69797049:A:G p.(Phe36Leu) NC_000014.9:69797049:A:G Identity +NM_033071.5:c.6929C>A NP_149062.2:p.Thr2310Lys NC_000006.12:152401258:G:T p.(Thr2310Lys) NC_000006.12:152401258:G:T p.(Thr2310Lys) NC_000006.12:152401258:G:T Identity +LRG_1191t1:c.5G>T LRG_1191p1:p.Arg2Leu NC_000020.11:10673525:C:A ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_001142649.2:c.1358C>A NP_001136121.1:p.Thr453Lys NC_000011.10:22257707:C:A p.(Thr453Lys) NC_000011.10:22257707:C:A p.(Thr453Lys) NC_000011.10:22257707:C:A Identity +NM_032119.4:c.18782T>C NP_115495.3:p.Leu6261Ser NC_000005.10:91153377:T:C p.(Leu6261Ser) NC_000005.10:91153377:T:C p.(Leu6261Ser) NC_000005.10:91153377:T:C Identity +NM_001282782.2:c.653G>A NP_001269711.1:p.Arg218Gln NC_000022.11:46355564:G:A p.(Arg218Gln) NC_000022.11:46355564:G:A p.(Arg218Gln) NC_000022.11:46355564:G:A Identity +NM_000543.5:c.221A>C NP_000534.3:p.His74Pro NC_000011.10:6390818:A:C p.(His74Pro) NC_000011.10:6390818:A:C p.(His74Pro) NC_000011.10:6390818:A:C Identity +NM_000492.4:c.4383G>T NP_000483.3:p.Lys1461Asn NC_000007.14:117667047:G:T p.(Lys1461Asn) NC_000007.14:117667047:G:T p.(Lys1461Asn) NC_000007.14:117667047:G:T Identity +NM_001322481.2:c.1177G>A NP_001309410.1:p.Ala393Thr NC_000010.11:98423846:C:T p.(Ala393Thr) NC_000010.11:98423846:C:T p.(Ala393Thr) NC_000010.11:98423846:C:T Identity +LRG_1201t1:c.356C>A LRG_1201p1:p.Pro119His NC_000009.12:69220899:C:A ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found +NM_000780.4:c.763G>A NP_000771.2:p.Glu255Lys NC_000008.11:58496748:C:T p.(Glu255Lys) NC_000008.11:58496748:C:T p.(Glu255Lys) NC_000008.11:58496748:C:T Identity +NM_000466.3:c.3130G>A NP_000457.1:p.Gly1044Arg NC_000007.14:92493029:C:T p.(Gly1044Arg) NC_000007.14:92493029:C:T p.(Gly1044Arg) NC_000007.14:92493029:C:T Identity +NM_001077191.2:c.857G>A NP_001070659.1:p.Arg286His NC_000002.12:218263580:G:A p.(Arg286His) NC_000002.12:218263580:G:A p.(Arg286His) NC_000002.12:218263580:G:A Identity +NM_001145288.2:c.1409G>T NP_001138760.1:p.Cys470Phe NC_000012.12:100419947:G:T p.(Cys470Phe) NC_000012.12:100419947:G:T p.(Cys470Phe) NC_000012.12:100419947:G:T Identity +NM_000445.5:c.12703G>A NP_000436.2:p.Ala4235Thr NC_000008.11:143917198:C:T p.(Ala4235Thr) NC_000008.11:143917198:C:T p.(Ala4235Thr) NC_000008.11:143917198:C:T Identity +NM_153240.5:c.727A>G NP_694972.3:p.Ile243Val NC_000003.12:132716852:T:C p.(Ile243Val) NC_000003.12:132716852:T:C p.(Ile243Val) NC_000003.12:132716852:T:C Identity +NM_000458.4:c.254A>G NP_000449.1:p.Asp85Gly NC_000017.11:37744630:T:C p.(Asp85Gly) NC_000017.11:37744630:T:C p.(Asp85Gly) NC_000017.11:37744630:T:C Identity +LRG_1199t1:c.3629C>G LRG_1199p1:p.Thr1210Ser NC_000002.12:168924792:G:C ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001256850.1:c.14015C>T NP_001243779.1:p.Pro4672Leu NC_000002.12:178734957:G:A p.(Pro4672Leu) NC_000002.12:178734957:G:A p.(Pro4672Leu) NC_000002.12:178734957:G:A Identity +LRG_1201t1:c.1433G>C LRG_1201p1:p.Arg478Thr NC_000009.12:69228093:G:C ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1201t1, alt_ac=LRG_1201t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1201t1 not found +NM_001256850.1:c.88495G>A NP_001243779.1:p.Asp29499Asn NC_000002.12:178548207:C:T p.(Asp29499Asn) NC_000002.12:178548207:C:T p.(Asp29499Asn) NC_000002.12:178548207:C:T Identity +NM_001164098.2:c.2674G>A NP_001157570.1:p.Ala892Thr NC_000005.10:83520979:G:A p.(Ala892Thr) NC_000005.10:83520979:G:A p.(Ala892Thr) NC_000005.10:83520979:G:A Identity +NM_001256850.1:c.50804C>T NP_001243779.1:p.Pro16935Leu NC_000002.12:178601269:G:A p.(Pro16935Leu) NC_000002.12:178601269:G:A p.(Pro16935Leu) NC_000002.12:178601269:G:A Identity +LRG_1199t1:c.896G>A LRG_1199p1:p.Arg299Lys NC_000002.12:168990812:C:T ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001288607.2:c.2852C>T NP_001275536.1:p.Thr951Met NC_000001.11:150559785:C:T p.(Thr951Met) NC_000001.11:150559785:C:T p.(Thr951Met) NC_000001.11:150559785:C:T Identity +NM_001080522.2:c.4460G>A NP_001073991.2:p.Arg1487His NC_000004.12:15597428:G:A p.(Arg1487His) NC_000004.12:15597428:G:A p.(Arg1487His) NC_000004.12:15597428:G:A Identity +NM_001164317.2:c.3826G>T NP_001157789.1:p.Ala1276Ser NC_000003.12:58124432:G:T p.(Ala1276Ser) NC_000003.12:58124432:G:T p.(Ala1276Ser) NC_000003.12:58124432:G:T Identity +NM_000295.5:c.1156C>T NP_000286.3:p.Pro386Ser NC_000014.9:94378549:G:A p.(Pro386Ser) NC_000014.9:94378549:G:A p.(Pro386Ser) NC_000014.9:94378549:G:A Identity +NM_000780.4:c.317C>A NP_000771.2:p.Ala106Glu NC_000008.11:58498232:G:T p.(Ala106Glu) NC_000008.11:58498232:G:T p.(Ala106Glu) NC_000008.11:58498232:G:T Identity +NM_001291593.2:c.712G>A NP_001278522.1:p.Val238Ile NC_000001.11:5890920:C:T p.(Val238Ile) NC_000001.11:5890920:C:T p.(Val238Ile) NC_000001.11:5890920:C:T Identity +LRG_1199t1:c.127G>T LRG_1199p1:p.Val43Phe NC_000002.12:169014325:C:A ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001291593.2:c.2560G>A NP_001278522.1:p.Asp854Asn NC_000001.11:5863930:C:T p.(Asp854Asn) NC_000001.11:5863930:C:T p.(Asp854Asn) NC_000001.11:5863930:C:T Identity +NM_024408.4:c.6547A>G NP_077719.2:p.Met2183Val NC_000001.11:119916174:T:C p.(Met2183Val) NC_000001.11:119916174:T:C p.(Met2183Val) NC_000001.11:119916174:T:C Identity +NM_001291860.2:c.8611C>T NP_001278789.1:p.Arg2871Trp NC_000001.11:21844155:G:A p.(Arg2871Trp) NC_000001.11:21844155:G:A p.(Arg2871Trp) NC_000001.11:21844155:G:A Identity +NM_001166133.2:c.2861C>T NP_001159605.1:p.Thr954Met NC_000004.12:78369975:C:T p.(Thr954Met) NC_000004.12:78369975:C:T p.(Thr954Met) NC_000004.12:78369975:C:T Identity +NM_000109.4:c.469G>T NP_000100.3:p.Asp157Tyr NC_000023.11:32816504:C:A p.(Asp157Tyr) NC_000023.11:32816504:C:A p.(Asp157Tyr) NC_000023.11:32816504:C:A Identity +NM_001330358.2:c.1748A>C NP_001317287.1:p.Asn583Thr NC_000001.11:11792284:T:G p.(Asn583Thr) NC_000001.11:11792284:T:G p.(Asn583Thr) NC_000001.11:11792284:T:G Identity +NM_001966.4:c.77C>T NP_001957.2:p.Thr26Met NC_000003.12:185248514:G:A p.(Thr26Met) NC_000003.12:185248514:G:A p.(Thr26Met) NC_000003.12:185248514:G:A Identity +NM_001083314.4:c.538G>C NP_001076783.1:p.Ala180Pro NC_000016.10:89646537:C:G p.(Ala180Pro) NC_000016.10:89646537:C:G p.(Ala180Pro) NC_000016.10:89646537:C:G Identity +NM_001193503.2:c.77C>T NP_001180432.1:p.Thr26Met NC_000017.11:4951905:C:T p.(Thr26Met) NC_000017.11:4951905:C:T p.(Thr26Met) NC_000017.11:4951905:C:T Identity +LRG_1208t1:c.517G>A LRG_1208p1:p.Gly173Arg NC_000010.11:99793939:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001256850.1:c.71005G>T NP_001243779.1:p.Ala23669Ser NC_000002.12:178570203:C:A p.(Ala23669Ser) NC_000002.12:178570203:C:A p.(Ala23669Ser) NC_000002.12:178570203:C:A Identity +NM_001114978.2:c.290G>A NP_001108450.1:p.Arg97His NC_000003.12:189738739:G:A p.(Arg97His) NC_000003.12:189738739:G:A p.(Arg97His) NC_000003.12:189738739:G:A Identity +NM_001377948.1:c.1099C>G NP_001364877.1:p.Leu367Val NC_000014.9:21325027:C:G p.(Leu367Val) NC_000014.9:21325027:C:G p.(Leu367Val) NC_000014.9:21325027:C:G Identity +NM_001282782.2:c.812G>A NP_001269711.1:p.Arg271Gln NC_000022.11:46356893:G:A p.(Arg271Gln) NC_000022.11:46356893:G:A p.(Arg271Gln) NC_000022.11:46356893:G:A Identity +NM_001200001.2:c.815G>A NP_001186930.1:p.Gly272Glu NC_000001.11:119987018:C:T p.(Gly272Glu) NC_000001.11:119987018:C:T p.(Gly272Glu) NC_000001.11:119987018:C:T Identity +NM_000443.4:c.927T>G NP_000434.1:p.Tyr309Ter NC_000007.14:87447111:A:C p.(Tyr309Ter) NC_000007.14:87447111:A:C p.(Tyr309Ter) NC_000007.14:87447111:A:C Identity +NM_001848.3:c.1906G>A NP_001839.2:p.Asp636Asn NC_000021.9:46001335:G:A p.(Asp636Asn) NC_000021.9:46001335:G:A p.(Asp636Asn) NC_000021.9:46001335:G:A Identity +LRG_1244t1:c.599A>G LRG_1244p1:p.Glu200Gly NC_000009.12:101426579:T:C ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found +NM_024408.4:c.4162A>G NP_077719.2:p.Ser1388Gly NC_000001.11:119925653:T:C p.(Ser1388Gly) NC_000001.11:119925653:T:C p.(Ser1388Gly) NC_000001.11:119925653:T:C Identity +NM_004525.3:c.5303A>G NP_004516.2:p.Asn1768Ser NC_000002.12:169226512:T:C p.(Asn1768Ser) NC_000002.12:169226512:T:C p.(Asn1768Ser) NC_000002.12:169226512:T:C Identity +NM_001330677.2:c.1483A>G NP_001317606.1:p.Met495Val NC_000001.11:118885057:T:C p.(Met495Val) NC_000001.11:118885057:T:C p.(Met495Val) NC_000001.11:118885057:T:C Identity +NM_002500.5:c.514C>T NP_002491.3:p.Leu172Phe NC_000002.12:181678346:G:A p.(Leu172Phe) NC_000002.12:181678346:G:A p.(Leu172Phe) NC_000002.12:181678346:G:A Identity +NM_000109.4:c.8402G>A NP_000100.3:p.Arg2801His NC_000023.11:31496908:C:T p.(Arg2801His) NC_000023.11:31496908:C:T p.(Arg2801His) NC_000023.11:31496908:C:T Identity +NM_000319.5:c.659G>A NP_000310.2:p.Arg220Gln NC_000012.12:7202256:G:A p.(Arg220Gln) NC_000012.12:7202256:G:A p.(Arg220Gln) NC_000012.12:7202256:G:A Identity +NM_001321268.2:c.948C>T NP_001308197.1:p.Phe316= NC_000017.11:58206313:G:A p.(Phe316=) NC_000017.11:58206313:G:A p.(Phe316=) NC_000017.11:58206313:G:A Identity +NM_001256850.1:c.15157G>T NP_001243779.1:p.Val5053Phe NC_000002.12:178733067:C:A p.(Val5053Phe) NC_000002.12:178733067:C:A p.(Val5053Phe) NC_000002.12:178733067:C:A Identity +NM_000543.5:c.1345G>C NP_000534.3:p.Glu449Gln NC_000011.10:6393899:G:C p.(Glu449Gln) NC_000011.10:6393899:G:C p.(Glu449Gln) NC_000011.10:6393899:G:C Identity +NM_001174098.2:c.365A>G NP_001167569.1:p.Asn122Ser NC_000010.11:71344272:A:G p.(Asn122Ser) NC_000010.11:71344272:A:G p.(Asn122Ser) NC_000010.11:71344272:A:G Identity +NM_006767.4:c.1990G>A NP_006758.2:p.Ala664Thr NC_000022.11:20995792:G:A p.(Ala664Thr) NC_000022.11:20995792:G:A p.(Ala664Thr) NC_000022.11:20995792:G:A Identity +NM_005359.6:c.1058A>G NP_005350.1:p.Tyr353Cys NC_000018.10:51065524:A:G p.(Tyr353Cys) NC_000018.10:51065524:A:G p.(Tyr353Cys) NC_000018.10:51065524:A:G Identity +LRG_1208t1:c.4555G>A LRG_1208p1:p.Glu1519Lys NC_000010.11:99851547:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001163817.2:c.233G>A NP_001157289.1:p.Gly78Glu NC_000011.10:71444080:C:T p.(Gly78Glu) NC_000011.10:71444080:C:T p.(Gly78Glu) NC_000011.10:71444080:C:T Identity +NM_000439.5:c.676G>A NP_000430.3:p.Gly226Arg NC_000005.10:96416065:C:T p.(Gly226Arg) NC_000005.10:96416065:C:T p.(Gly226Arg) NC_000005.10:96416065:C:T Identity +NM_138694.4:c.3073G>C NP_619639.3:p.Glu1025Gln NC_000006.12:52042882:C:G p.(Glu1025Gln) NC_000006.12:52042882:C:G p.(Glu1025Gln) NC_000006.12:52042882:C:G Identity +NM_001039141.3:c.2105A>G NP_001034230.1:p.Gln702Arg NC_000022.11:37724660:A:G p.(Gln702Arg) NC_000022.11:37724660:A:G p.(Gln702Arg) NC_000022.11:37724660:A:G Identity +NM_000109.4:c.6625C>T NP_000100.3:p.Gln2209Ter NC_000023.11:31932192:G:A p.(Gln2209Ter) NC_000023.11:31932192:G:A p.(Gln2209Ter) NC_000023.11:31932192:G:A Identity +NM_000445.5:c.10297C>G NP_000436.2:p.Arg3433Gly NC_000008.11:143919604:G:C p.(Arg3433Gly) NC_000008.11:143919604:G:C p.(Arg3433Gly) NC_000008.11:143919604:G:C Identity +NM_001848.3:c.823G>C NP_001839.2:p.Gly275Arg NC_000021.9:45989101:G:C p.(Gly275Arg) NC_000021.9:45989101:G:C p.(Gly275Arg) NC_000021.9:45989101:G:C Identity +NM_000318.3:c.304C>A NP_000309.2:p.Gln102Lys NC_000008.11:76983874:G:T p.(Gln102Lys) NC_000008.11:76983874:G:T p.(Gln102Lys) NC_000008.11:76983874:G:T Identity +LRG_1199t1:c.830C>A LRG_1199p1:p.Ala277Glu NC_000002.12:168990878:G:T ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1199t1, alt_ac=LRG_1199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1199t1 not found +NM_001077186.2:c.5302G>A NP_001070654.1:p.Glu1768Lys NC_000019.10:50293618:G:A p.(Glu1768Lys) NC_000019.10:50293618:G:A p.(Glu1768Lys) NC_000019.10:50293618:G:A Identity +NM_001184795.1:c.724C>T NP_001171724.1:p.Arg242Ter NC_000001.11:145912174:G:A p.(Arg242Ter) NC_000001.11:145912174:G:A p.(Arg242Ter) NC_000001.11:145912174:G:A Identity +NM_000109.4:c.3310G>A NP_000100.3:p.Gly1104Arg NC_000023.11:32463536:C:T p.(Gly1104Arg) NC_000023.11:32463536:C:T p.(Gly1104Arg) NC_000023.11:32463536:C:T Identity +NM_153240.5:c.974T>C NP_694972.3:p.Leu325Pro NC_000003.12:132713269:A:G p.(Leu325Pro) NC_000003.12:132713269:A:G p.(Leu325Pro) NC_000003.12:132713269:A:G Identity +NM_001135999.2:c.347A>T NP_001129471.2:p.Asp116Val NC_000009.12:35546867:A:T p.(Asp116Val) NC_000009.12:35546867:A:T p.(Asp116Val) NC_000009.12:35546867:A:T Identity +NM_001966.4:c.46C>T NP_001957.2:p.Leu16Phe NC_000003.12:185253976:G:A p.(Leu16Phe) NC_000003.12:185253976:G:A p.(Leu16Phe) NC_000003.12:185253976:G:A Identity +NM_000443.4:c.1943del NP_000434.1:p.Lys648fs NC_000007.14:87426870:TTTT:TTT p.(Lys648ArgfsTer51) NC_000007.14:87426870:TTTT:TTT p.(Lys648ArgfsTer51) NC_000007.14:87426870:T: Analogous +NM_000466.3:c.464T>C NP_000457.1:p.Ile155Thr NC_000007.14:92518148:A:G p.(Ile155Thr) NC_000007.14:92518148:A:G p.(Ile155Thr) NC_000007.14:92518148:A:G Identity +NM_000087.5:c.1617C>G NP_000078.3:p.Tyr539Ter NC_000004.12:47936864:G:C p.(Tyr539Ter) NC_000004.12:47936864:G:C p.(Tyr539Ter) NC_000004.12:47936864:G:C Identity +NM_001371986.1:c.2012G>A NP_001358915.1:p.Arg671His NC_000002.12:209820359:G:A p.(Arg671His) NC_000002.12:209820359:G:A p.(Arg671His) NC_000002.12:209820359:G:A Identity +NM_001321196.2:c.1783A>G NP_001308125.1:p.Met595Val NC_000019.10:58498552:T:C p.(Met595Val) NC_000019.10:58498552:T:C p.(Met595Val) NC_000019.10:58498552:T:C Identity +NM_133379.5:c.11699T>C NP_596870.2:p.Ile3900Thr NC_000002.12:178750700:A:G p.(Ile3900Thr) NC_000002.12:178750700:A:G p.(Ile3900Thr) NC_000002.12:178750700:A:G Identity +NM_033087.4:c.97G>C NP_149078.1:p.Val33Leu NC_000009.12:99221797:C:G p.(Val33Leu) NC_000009.12:99221797:C:G p.(Val33Leu) NC_000009.12:99221797:C:G Identity +NM_000443.4:c.2828_2829delinsAT NP_000434.1:p.Ile943Asn NC_000007.14:87411987:GA:AT p.(Ile943Asn) NC_000007.14:87411987:GA:AT p.(Ile943Asn) NC_000007.14:87411987:GA:AT Identity +NM_001374425.1:c.220G>A NP_001361354.1:p.Val74Ile NC_000001.11:2408831:C:T p.(Val74Ile) NC_000001.11:2408831:C:T p.(Val74Ile) NC_000001.11:2408831:C:T Identity +NM_000335.5:c.4309C>T NP_000326.2:p.Pro1437Ser NC_000003.12:38556565:G:A p.(Pro1437Ser) NC_000003.12:38556565:G:A p.(Pro1437Ser) NC_000003.12:38556565:G:A Identity +NM_006593.4:c.1165A>G NP_006584.1:p.Lys389Glu NC_000002.12:161420231:A:G p.(Lys389Glu) NC_000002.12:161420231:A:G p.(Lys389Glu) NC_000002.12:161420231:A:G Identity +NM_000466.3:c.1412A>G NP_000457.1:p.Gln471Arg NC_000007.14:92511650:T:C p.(Gln471Arg) NC_000007.14:92511650:T:C p.(Gln471Arg) NC_000007.14:92511650:T:C Identity +NM_001168370.2:c.3193G>A NP_001161842.2:p.Glu1065Lys NC_000006.12:43044826:C:T p.(Glu1065Lys) NC_000006.12:43044826:C:T p.(Glu1065Lys) NC_000006.12:43044826:C:T Identity +NM_000445.5:c.11000A>G NP_000436.2:p.Tyr3667Cys NC_000008.11:143918901:T:C p.(Tyr3667Cys) NC_000008.11:143918901:T:C p.(Tyr3667Cys) NC_000008.11:143918901:T:C Identity +NM_001372031.1:c.382G>A NP_001358960.1:p.Val128Ile NC_000011.10:112028514:G:A p.(Val128Ile) NC_000011.10:112028514:G:A p.(Val128Ile) NC_000011.10:112028514:G:A Identity +NM_001193503.2:c.645T>G NP_001180432.1:p.Asp215Glu NC_000017.11:4955512:T:G p.(Asp215Glu) NC_000017.11:4955512:T:G p.(Asp215Glu) NC_000017.11:4955512:T:G Identity +NM_000452.3:c.53C>T NP_000443.2:p.Ser18Phe NC_000013.11:103066196:G:A p.(Ser18Phe) NC_000013.11:103066196:G:A p.(Ser18Phe) NC_000013.11:103066196:G:A Identity +NM_152416.4:c.97A>G NP_689629.2:p.Met33Val NC_000008.11:95025104:A:G p.(Met33Val) NC_000008.11:95025104:A:G p.(Met33Val) NC_000008.11:95025104:A:G Identity +NM_000124.4:c.129G>T NP_000115.1:p.Glu43Asp NC_000010.11:49532835:C:A p.(Glu43Asp) NC_000010.11:49532835:C:A p.(Glu43Asp) NC_000010.11:49532835:C:A Identity +NM_001195610.2:c.869A>G NP_001182539.1:p.Lys290Arg NC_000006.12:24278101:T:C p.(Lys290Arg) NC_000006.12:24278101:T:C p.(Lys290Arg) NC_000006.12:24278101:T:C Identity +NM_032119.4:c.14602A>G NP_115495.3:p.Ile4868Val NC_000005.10:90802822:A:G p.(Ile4868Val) NC_000005.10:90802822:A:G p.(Ile4868Val) NC_000005.10:90802822:A:G Identity +NM_000335.5:c.435C>A NP_000326.2:p.Cys145Ter NC_000003.12:38622446:G:T p.(Cys145Ter) NC_000003.12:38622446:G:T p.(Cys145Ter) NC_000003.12:38622446:G:T Identity +NM_001012339.3:c.544C>T NP_001012339.2:p.Arg182Ter NC_000005.10:34937430:C:T p.(Arg182Ter) NC_000005.10:34937430:C:T p.(Arg182Ter) NC_000005.10:34937430:C:T Identity +NM_005215.4:c.1667del NP_005206.2:p.Gly556fs NC_000018.10:53205307:GG:G p.(Gly556ValfsTer21) NC_000018.10:53205307:GG:G p.(Gly556ValfsTer21) NC_000018.10:53205308:G: Analogous +NM_000296.4:c.3850del NP_000287.4:p.Ala1284fs NC_000016.10:2111316:CC:C p.(Ala1284ProfsTer62) NC_000016.10:2111316:CC:C p.(Ala1284ProfsTer62) NC_000016.10:2111316:C: Analogous +NM_198075.4:c.760G>T NP_932341.1:p.Glu254Ter NC_000011.10:551265:G:T p.(Glu254Ter) NC_000011.10:551265:G:T p.(Glu254Ter) NC_000011.10:551265:G:T Identity +NM_001166415.2:c.695C>T NP_001159887.1:p.Ser232Leu NC_000003.12:185193414:G:A p.(Ser232Leu) NC_000003.12:185193414:G:A p.(Ser232Leu) NC_000003.12:185193414:G:A Identity +NM_001256850.1:c.71710G>A NP_001243779.1:p.Gly23904Arg NC_000002.12:178569498:C:T p.(Gly23904Arg) NC_000002.12:178569498:C:T p.(Gly23904Arg) NC_000002.12:178569498:C:T Identity +NM_001286715.1:c.2518C>T NP_001273644.1:p.Gln840Ter NC_000009.12:85596422:G:A p.(Gln840Ter) NC_000009.12:85596422:G:A p.(Gln840Ter) NC_000009.12:85596422:G:A Identity +NM_001111125.3:c.4419del NP_001104595.1:p.Ser1474fs NC_000023.11:53234266:GGGGGGG:GGGGGG p.(Ser1474ValfsTer21) NC_000023.11:53234266:GGGGGGG:GGGGGG p.(Ser1474ValfsTer21) NC_000023.11:53234266:G: Analogous +NM_000323.2:c.3143delT NP_000314.1:p.Leu1048Profs NC_000010.11:43126677:T: ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_015306.3:c.2491A>G NP_056121.2:p.Met831Val NC_000001.11:55143067:T:C p.(Met831Val) NC_000001.11:55143067:T:C p.(Met831Val) NC_000001.11:55143067:T:C Identity +NM_001378418.1:c.2088_2089del NP_001365347.1:p.Glu697fs NC_000022.11:42213216:CA: p.(Glu697AlafsTer2) NC_000022.11:42213216:CA: p.(Glu697AlafsTer2) NC_000022.11:42213216:CA: Analogous +NM_001378454.1:c.6211A>G NP_001365383.1:p.Ile2071Val NC_000002.12:73452737:A:G p.(Ile2071Val) NC_000002.12:73452737:A:G p.(Ile2071Val) NC_000002.12:73452737:A:G Identity +NM_000346.4:c.491A>C NP_000337.1:p.Gln164Pro NC_000017.11:72122777:A:C p.(Gln164Pro) NC_000017.11:72122777:A:C p.(Gln164Pro) NC_000017.11:72122777:A:C Identity +NM_000169.3:c.193A>G NP_000160.1:p.Ser65Gly NC_000023.11:101407710:T:C p.(Ser65Gly) NC_000023.11:101407710:T:C p.(Ser65Gly) NC_000023.11:101407710:T:C Identity +NM_001145717.1:c.387C>A NP_001139189.2:p.Asp129Glu NC_000006.12:36291500:C:A p.(Asp129Glu) NC_000006.12:36291500:C:A p.(Asp129Glu) NC_000006.12:36291500:C:A Identity +NM_005751.5:c.460C>A NP_005742.4:p.Pro154Thr NC_000007.14:91992938:C:A p.(Pro154Thr) NC_000007.14:91992938:C:A p.(Pro154Thr) NC_000007.14:91992938:C:A Identity +NM_000037.4:c.1480G>A NP_000028.3:p.Ala494Thr NC_000008.11:41715773:C:T p.(Ala494Thr) NC_000008.11:41715773:C:T p.(Ala494Thr) NC_000008.11:41715773:C:T Identity +NM_001256850.1:c.56741G>A NP_001243779.1:p.Ser18914Asn NC_000002.12:178590060:C:T p.(Ser18914Asn) NC_000002.12:178590060:C:T p.(Ser18914Asn) NC_000002.12:178590060:C:T Identity +NM_001303052.2:c.1678C>T NP_001289981.1:p.His560Tyr NC_000002.12:1912050:G:A p.(His560Tyr) NC_000002.12:1912050:G:A p.(His560Tyr) NC_000002.12:1912050:G:A Identity +NM_000701.8:c.2576T>G NP_000692.2:p.Met859Arg NC_000001.11:116400863:T:G p.(Met859Arg) NC_000001.11:116400863:T:G p.(Met859Arg) NC_000001.11:116400863:T:G Identity +NM_002317.7:c.604G>T NP_002308.2:p.Gly202Ter NC_000005.10:122077381:C:A p.(Gly202Ter) NC_000005.10:122077381:C:A p.(Gly202Ter) NC_000005.10:122077381:C:A Identity +NM_007272.3:c.752T>C NP_009203.2:p.Val251Ala NC_000001.11:15445708:T:C p.(Val251Ala) NC_000001.11:15445708:T:C p.(Val251Ala) NC_000001.11:15445708:T:C Identity +NM_001972.4:c.235G>T NP_001963.1:p.Ala79Ser NC_000019.10:853271:G:T p.(Ala79Ser) NC_000019.10:853271:G:T p.(Ala79Ser) NC_000019.10:853271:G:T Identity +NM_000132.4:c.5954del NP_000123.1:p.Arg1985fs NC_000023.11:154903949:C: p.(Arg1985GlnfsTer45) NC_000023.11:154903949:C: p.(Arg1985GlnfsTer45) NC_000023.11:154903949:C: Analogous +NM_024408.4:c.6026A>G NP_077719.2:p.Lys2009Arg NC_000001.11:119917665:T:C p.(Lys2009Arg) NC_000001.11:119917665:T:C p.(Lys2009Arg) NC_000001.11:119917665:T:C Identity +NM_001029882.3:c.2438G>A NP_001025053.1:p.Arg813His NC_000001.11:27549677:C:T p.(Arg813His) NC_000001.11:27549677:C:T p.(Arg813His) NC_000001.11:27549677:C:T Identity +NM_001256850.1:c.79234C>T NP_001243779.1:p.Leu26412Phe NC_000002.12:178561974:G:A p.(Leu26412Phe) NC_000002.12:178561974:G:A p.(Leu26412Phe) NC_000002.12:178561974:G:A Identity +NM_000020.3:c.1276T>A NP_000011.2:p.Tyr426Asn NC_000012.12:51919013:T:A p.(Tyr426Asn) NC_000012.12:51919013:T:A p.(Tyr426Asn) NC_000012.12:51919013:T:A Identity +NM_001282489.3:c.202G>A NP_001269418.1:p.Glu68Lys NC_000017.11:74920324:C:T p.(Glu68Lys) NC_000017.11:74920324:C:T p.(Glu68Lys) NC_000017.11:74920324:C:T Identity +NM_000296.4:c.5037C>A NP_000287.4:p.Ser1679Arg NC_000016.10:2110129:G:T p.(Ser1679Arg) NC_000016.10:2110129:G:T p.(Ser1679Arg) NC_000016.10:2110129:G:T Identity +NM_001364440.2:c.607G>T NP_001351369.1:p.Asp203Tyr NC_000005.10:7878148:G:T p.(Asp203Tyr) NC_000005.10:7878148:G:T p.(Asp203Tyr) NC_000005.10:7878148:G:T Identity +NM_000296.4:c.8194C>T NP_000287.4:p.Arg2732Trp NC_000016.10:2103862:G:A p.(Arg2732Trp) NC_000016.10:2103862:G:A p.(Arg2732Trp) NC_000016.10:2103862:G:A Identity +LRG_1244t1:c.128G>A LRG_1244p1:p.Arg43His NC_000009.12:101429950:C:T ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1244t1, alt_ac=LRG_1244t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1244t1 not found +LRG_1208t1:c.1178G>A LRG_1208p1:p.Arg393Gln NC_000010.11:99800531:G:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001081.4:c.9922T>C NP_001072.2:p.Trp3308Arg NC_000010.11:16840439:A:G p.(Trp3308Arg) NC_000010.11:16840439:A:G p.(Trp3308Arg) NC_000010.11:16840439:A:G Identity +NM_001145853.1:c.601C>A NP_001139325.1:p.Leu201Met NC_000004.12:6291336:C:A p.(Leu201Met) NC_000004.12:6291336:C:A p.(Leu201Met) NC_000004.12:6291336:C:A Identity +NM_006579.3:c.445A>G NP_006570.1:p.Ile149Val NC_000023.11:48527260:A:G p.(Ile149Val) NC_000023.11:48527260:A:G p.(Ile149Val) NC_000023.11:48527260:A:G Identity +NM_004444.5:c.1180C>T NP_004435.3:p.Arg394Ter NC_000007.14:100819673:G:A p.(Arg394Ter) NC_000007.14:100819673:G:A p.(Arg394Ter) NC_000007.14:100819673:G:A Identity +NM_001321851.1:c.1619del NP_001308780.1:p.Lys540fs NC_000014.9:92006353:TTTTTTT:TTTTTT p.(Lys540ArgfsTer17) NC_000014.9:92006353:TTTTTTT:TTTTTT p.(Lys540ArgfsTer17) NC_000014.9:92006353:T: Analogous +NM_138694.4:c.1691G>A NP_619639.3:p.Arg564Gln NC_000006.12:52056699:C:T p.(Arg564Gln) NC_000006.12:52056699:C:T p.(Arg564Gln) NC_000006.12:52056699:C:T Identity +NM_138964.4:c.1019T>A NP_620414.1:p.Leu340Gln NC_000002.12:68655412:T:A p.(Leu340Gln) NC_000002.12:68655412:T:A p.(Leu340Gln) NC_000002.12:68655412:T:A Identity +NM_006343.3:c.1984C>G NP_006334.2:p.Gln662Glu NC_000002.12:112009970:C:G p.(Gln662Glu) NC_000002.12:112009970:C:G p.(Gln662Glu) NC_000002.12:112009970:C:G Identity +NM_000440.3:c.103G>A NP_000431.2:p.Asp35Asn NC_000005.10:149944570:C:T p.(Asp35Asn) NC_000005.10:149944570:C:T p.(Asp35Asn) NC_000005.10:149944570:C:T Identity +NM_000492.4:c.3728T>A NP_000483.3:p.Leu1243Ter NC_000007.14:117642447:T:A p.(Leu1243Ter) NC_000007.14:117642447:T:A p.(Leu1243Ter) NC_000007.14:117642447:T:A Identity +NM_000090.4:c.1282C>T NP_000081.2:p.Arg428Ter NC_000002.12:188994320:C:T p.(Arg428Ter) NC_000002.12:188994320:C:T p.(Arg428Ter) NC_000002.12:188994320:C:T Identity +LRG_386t1:c.1142T>A LRG_386p1:p.Ile381Asn NC_000011.10:47343572:A:T ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001126131.2:c.3149del NP_001119603.1:p.Lys1050fs NC_000015.10:89319054:TT:T p.(Lys1050ArgfsTer44) NC_000015.10:89319054:TT:T p.(Lys1050ArgfsTer44) NC_000015.10:89319054:T: Analogous +NM_001126131.2:c.2698G>A NP_001119603.1:p.Ala900Thr NC_000015.10:89321160:C:T p.(Ala900Thr) NC_000015.10:89321160:C:T p.(Ala900Thr) NC_000015.10:89321160:C:T Identity +NM_000238.4:c.863T>C NP_000229.1:p.Ile288Thr NC_000007.14:150958111:A:G p.(Ile288Thr) NC_000007.14:150958111:A:G p.(Ile288Thr) NC_000007.14:150958111:A:G Identity +NM_000277.3:c.184C>G NP_000268.1:p.Leu62Val NC_000012.12:102894902:G:C p.(Leu62Val) NC_000012.12:102894902:G:C p.(Leu62Val) NC_000012.12:102894902:G:C Identity +NM_001368395.3:c.967C>T NP_001355324.1:p.Arg323Ter NC_000023.11:12694376:C:T p.(Arg323Ter) NC_000023.11:12694376:C:T p.(Arg323Ter) NC_000023.11:12694376:C:T Identity +NM_001178102.2:c.70G>A NP_001171573.1:p.Val24Ile NC_000005.10:122075521:C:T p.(Val24Ile) NC_000005.10:122075521:C:T p.(Val24Ile) NC_000005.10:122075521:C:T Identity +NM_001319960.2:c.2479G>T NP_001306889.1:p.Asp827Tyr NC_000001.11:184694430:C:A p.(Asp827Tyr) NC_000001.11:184694430:C:A p.(Asp827Tyr) NC_000001.11:184694430:C:A Identity +NM_001142966.3:c.111T>G NP_001136438.1:p.Phe37Leu NC_000018.10:21383628:T:G p.(Phe37Leu) NC_000018.10:21383628:T:G p.(Phe37Leu) NC_000018.10:21383628:T:G Identity +NM_001080481.3:c.178T>G NP_001073950.1:p.Ser60Ala NC_000006.12:99508704:A:C p.(Ser60Ala) NC_000006.12:99508704:A:C p.(Ser60Ala) NC_000006.12:99508704:A:C Identity +LRG_1025t2:c.364dup LRG_1025p2:p.Gln122fs NC_000022.11:42214941:GGGGGGG:GGGGGGGG ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found +NM_001378418.1:c.4741_4742del NP_001365347.1:p.Arg1581fs NC_000022.11:42210563:CTCT:CT p.(Arg1581AlafsTer30) NC_000022.11:42210563:CTCT:CT p.(Arg1581AlafsTer30) NC_000022.11:42210563:CT: Analogous +NM_144670.6:c.10C>T NP_653271.3:p.Gln4Ter NC_000012.12:8822660:C:T p.(Gln4Ter) NC_000012.12:8822660:C:T p.(Gln4Ter) NC_000012.12:8822660:C:T Identity +LRG_219t1:c.1021T>G LRG_219p1:p.Ser341Ala NC_000002.12:47799003:T:G ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_219t1 not found +NM_000179.3:c.3185G>A NP_000170.1:p.Cys1062Tyr NC_000002.12:47803431:G:A p.(Cys1062Tyr) NC_000002.12:47803431:G:A p.(Cys1062Tyr) NC_000002.12:47803431:G:A Identity +NM_000535.7:c.2075A>G NP_000526.2:p.Asn692Ser NC_000007.14:5982922:T:C p.(Asn692Ser) NC_000007.14:5982922:T:C p.(Asn692Ser) NC_000007.14:5982922:T:C Identity +NM_000384.3:c.9407G>A NP_000375.3:p.Arg3136His NC_000002.12:21007460:C:T p.(Arg3136His) NC_000002.12:21007460:C:T p.(Arg3136His) NC_000002.12:21007460:C:T Identity +NM_000059.4:c.77C>T NP_000050.3:p.Pro26Leu NC_000013.11:32319085:C:T p.(Pro26Leu) NC_000013.11:32319085:C:T p.(Pro26Leu) NC_000013.11:32319085:C:T Identity +NM_002087.4:c.560del NP_002078.1:p.Leu187fs NC_000017.11:44350538:T: p.(Leu187ArgfsTer69) NC_000017.11:44350538:T: p.(Leu187ArgfsTer69) NC_000017.11:44350538:T: Analogous +NM_021629.4:c.659A>G NP_067642.1:p.Gln220Arg NC_000003.12:179413451:T:C p.(Gln220Arg) NC_000003.12:179413451:T:C p.(Gln220Arg) NC_000003.12:179413451:T:C Identity +NM_001308240.2:c.110del NP_001295169.1:p.Gly37fs NC_000019.10:5679748:CCC:CC p.(Gly37GlufsTer75) NC_000019.10:5679748:CCC:CC p.(Gly37GlufsTer75) NC_000019.10:5679748:C: Analogous +NM_000059.4:c.6884_6888del NP_000050.3:p.Arg2295fs NC_000013.11:32344598:AGGATA:A p.(Arg2295AsnfsTer43) NC_000013.11:32344598:AGGATA:A p.(Arg2295AsnfsTer43) NC_000013.11:32344599:GGATA: Analogous +NM_000353.3:c.889C>T NP_000344.1:p.Arg297Ter NC_000016.10:71570701:G:A p.(Arg297Ter) NC_000016.10:71570701:G:A p.(Arg297Ter) NC_000016.10:71570701:G:A Identity +NM_001006941.2:c.206G>C NP_001006942.1:p.Arg69Pro NC_000003.12:184245561:C:G p.(Arg69Pro) NC_000003.12:184245561:C:G p.(Arg69Pro) NC_000003.12:184245561:C:G Identity +NM_000535.7:c.678_681dup NP_000526.2:p.Gly228fs NC_000007.14:5999131:GATA:GATAGATA p.(Gly228TyrfsTer22) NC_000007.14:5999131:GATA:GATAGATA p.(Gly228TyrfsTer22) ERR:SPDI Analogous +NM_005359.6:c.682A>G NP_005350.1:p.Ile228Val NC_000018.10:51058138:A:G p.(Ile228Val) NC_000018.10:51058138:A:G p.(Ile228Val) NC_000018.10:51058138:A:G Identity +NM_000038.6:c.636dup NP_000029.2:p.Arg213fs NC_000005.10:112780889:AAAAA:AAAAAA p.(Arg213ThrfsTer39) NC_000005.10:112780889:AAAAA:AAAAAA p.(Arg213ThrfsTer39) ERR:SPDI Analogous +NM_001099410.2:c.3754C>A NP_001092880.1:p.Pro1252Thr NC_000023.11:102657666:C:A p.(Pro1252Thr) NC_000023.11:102657666:C:A p.(Pro1252Thr) NC_000023.11:102657666:C:A Identity +NM_000127.3:c.1235G>A NP_000118.2:p.Trp412Ter NC_000008.11:117830278:C:T p.(Trp412Ter) NC_000008.11:117830278:C:T p.(Trp412Ter) NC_000008.11:117830278:C:T Identity +LRG_307t1:c.1279C>T LRG_307p1:p.Gln427Ter NC_000004.12:54723630:C:T ERR:Data provider error: ValueError: Transcript LRG_307t1 not found ERR:Data provider error: ValueError: Transcript LRG_307t1 not found ERR:AlignmentMapper(tx_ac=LRG_307t1, alt_ac=LRG_307t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_307t1, alt_ac=LRG_307t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_307t1 not found +NM_002317.7:c.460C>T NP_002308.2:p.Leu154Phe NC_000005.10:122077525:G:A p.(Leu154Phe) NC_000005.10:122077525:G:A p.(Leu154Phe) NC_000005.10:122077525:G:A Identity +NM_001291411.2:c.4055del NP_001278340.2:p.Pro1352fs NC_000021.9:33553282:CCCC:CCC p.(Pro1352GlnfsTer14) NC_000021.9:33553282:CCCC:CCC p.(Pro1352GlnfsTer14) NC_000021.9:33553285:C: Analogous +NM_000350.3:c.1714C>T NP_000341.2:p.Arg572Ter NC_000001.11:94063157:G:A p.(Arg572Ter) NC_000001.11:94063157:G:A p.(Arg572Ter) NC_000001.11:94063157:G:A Identity +NM_002547.3:c.1489C>T NP_002538.1:p.Arg497Ter NC_000023.11:68111890:G:A p.(Arg497Ter) NC_000023.11:68111890:G:A p.(Arg497Ter) NC_000023.11:68111890:G:A Identity +NM_001042529.3:c.394C>T NP_001035994.1:p.Gln132Ter NC_000017.11:42563015:C:T p.(Gln132Ter) NC_000017.11:42563015:C:T p.(Gln132Ter) NC_000017.11:42563015:C:T Identity +NM_000319.5:c.361G>T NP_000310.2:p.Glu121Ter NC_000012.12:7191612:G:T p.(Glu121Ter) NC_000012.12:7191612:G:T p.(Glu121Ter) NC_000012.12:7191612:G:T Identity +NM_001003800.2:c.754G>A NP_001003800.1:p.Glu252Lys NC_000009.12:92720607:C:T p.(Glu252Lys) NC_000009.12:92720607:C:T p.(Glu252Lys) NC_000009.12:92720607:C:T Identity +NM_001999.4:c.209T>C NP_001990.2:p.Val70Ala NC_000005.10:128537394:A:G p.(Val70Ala) NC_000005.10:128537394:A:G p.(Val70Ala) NC_000005.10:128537394:A:G Identity +NM_001277115.2:c.11533C>T NP_001264044.1:p.Arg3845Ter NC_000007.14:21866505:C:T p.(Arg3845Ter) NC_000007.14:21866505:C:T p.(Arg3845Ter) NC_000007.14:21866505:C:T Identity +LRG_381t1:c.928C>G LRG_381p1:p.His310Asp NC_000010.11:18518951:C:G ERR:Data provider error: ValueError: Transcript LRG_381t1 not found ERR:Data provider error: ValueError: Transcript LRG_381t1 not found ERR:AlignmentMapper(tx_ac=LRG_381t1, alt_ac=LRG_381t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_381t1, alt_ac=LRG_381t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_381t1 not found +NM_001130442.3:c.214A>C NP_001123914.1:p.Met72Leu NC_000011.10:533841:T:G p.(Met72Leu) NC_000011.10:533841:T:G p.(Met72Leu) NC_000011.10:533841:T:G Identity +NM_016169.4:c.1309G>A NP_057253.2:p.Glu437Lys NC_000010.11:102627186:G:A p.(Glu437Lys) NC_000010.11:102627186:G:A p.(Glu437Lys) NC_000010.11:102627186:G:A Identity +NM_001365684.2:c.1621A>T NP_001352613.2:p.Lys541Ter NC_000005.10:177210892:A:T p.(Lys541Ter) NC_000005.10:177210892:A:T p.(Lys541Ter) NC_000005.10:177210892:A:T Identity +NM_000400.4:c.1361TCA[2] NP_000391.1:p.Ile456del NC_000019.10:45357481:TGATGATGA:TGATGA p.(Ile456del) NC_000019.10:45357489:A:TGATGA ERR:Parse ERR:Parse Identity +NM_002473.6:c.5800del NP_002464.1:p.Met1934fs NC_000022.11:36282750:TT:T p.(Met1934TrpfsTer14) NC_000022.11:36282750:TT:T p.(Met1934TrpfsTer14) NC_000022.11:36282750:T: Analogous +LRG_1327t1:c.949G>A LRG_1327p1:p.Glu317Lys NC_000003.12:53185663:G:A ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_012452.3:c.604C>T NP_036584.1:p.Arg202Cys NC_000017.11:16940352:G:A p.(Arg202Cys) NC_000017.11:16940352:G:A p.(Arg202Cys) NC_000017.11:16940352:G:A Identity +NM_001072.4:c.348G>C NP_001063.2:p.Met116Ile NC_000002.12:233693351:G:C p.(Met116Ile) NC_000002.12:233693351:G:C p.(Met116Ile) NC_000002.12:233693351:G:C Identity +NM_001291860.2:c.7687C>T NP_001278789.1:p.Pro2563Ser NC_000001.11:21848695:G:A p.(Pro2563Ser) NC_000001.11:21848695:G:A p.(Pro2563Ser) NC_000001.11:21848695:G:A Identity +NM_006015.6:c.4669C>G NP_006006.3:p.Pro1557Ala NC_000001.11:26774895:C:G p.(Pro1557Ala) NC_000001.11:26774895:C:G p.(Pro1557Ala) NC_000001.11:26774895:C:G Identity +NM_001256864.2:c.1039A>G NP_001243793.1:p.Ile347Val NC_000001.11:65386854:A:G p.(Ile347Val) NC_000001.11:65386854:A:G p.(Ile347Val) NC_000001.11:65386854:A:G Identity +NM_001130916.3:c.199C>T NP_001124388.1:p.His67Tyr NC_000009.12:99128955:C:T p.(His67Tyr) NC_000009.12:99128955:C:T p.(His67Tyr) NC_000009.12:99128955:C:T Identity +NM_000089.4:c.3080G>A NP_000080.2:p.Gly1027Glu NC_000007.14:94426504:G:A p.(Gly1027Glu) NC_000007.14:94426504:G:A p.(Gly1027Glu) NC_000007.14:94426504:G:A Identity +NM_000090.4:c.2713C>T NP_000081.2:p.Pro905Ser NC_000002.12:189004032:C:T p.(Pro905Ser) NC_000002.12:189004032:C:T p.(Pro905Ser) NC_000002.12:189004032:C:T Identity +NM_000133.4:c.1289G>A NP_000124.1:p.Ser430Asn NC_000023.11:139561973:G:A p.(Ser430Asn) NC_000023.11:139561973:G:A p.(Ser430Asn) NC_000023.11:139561973:G:A Identity +NM_001190709.2:c.2855G>A NP_001177638.1:p.Gly952Asp NC_000001.11:102962704:C:T p.(Gly952Asp) NC_000001.11:102962704:C:T p.(Gly952Asp) NC_000001.11:102962704:C:T Identity +NM_000056.5:c.1145G>A NP_000047.1:p.Cys382Tyr NC_000006.12:80343769:G:A p.(Cys382Tyr) NC_000006.12:80343769:G:A p.(Cys382Tyr) NC_000006.12:80343769:G:A Identity +NM_018968.4:c.883G>C NP_061841.2:p.Asp295His NC_000002.12:1239770:G:C p.(Asp295His) NC_000002.12:1239770:G:C p.(Asp295His) NC_000002.12:1239770:G:C Identity +NM_001142800.2:c.8243dup NP_001136272.1:p.Leu2748fs NC_000006.12:63721787:AAAAAA:AAAAAAA p.(Leu2748PhefsTer8) NC_000006.12:63721787:AAAAAA:AAAAAAA p.(Leu2748PhefsTer8) ERR:SPDI Analogous +NM_000492.4:c.2089del NP_000483.3:p.Arg697fs NC_000007.14:117592250:AAAAAA:AAAAA p.(Arg697GlyfsTer25) NC_000007.14:117592250:AAAAAA:AAAAA p.(Arg697GlyfsTer25) NC_000007.14:117592255:A: Analogous +NM_000492.4:c.503C>T NP_000483.3:p.Ser168Leu NC_000007.14:117534288:C:T p.(Ser168Leu) NC_000007.14:117534288:C:T p.(Ser168Leu) NC_000007.14:117534288:C:T Identity +NM_001127394.4:c.241T>C NP_001120866.1:p.Cys81Arg NC_000001.11:184054750:T:C p.(Cys81Arg) NC_000001.11:184054750:T:C p.(Cys81Arg) NC_000001.11:184054750:T:C Identity +NM_002838.5:c.3465A>C NP_002829.3:p.Glu1155Asp NC_000001.11:198752727:A:C p.(Glu1155Asp) NC_000001.11:198752727:A:C p.(Glu1155Asp) NC_000001.11:198752727:A:C Identity +NM_000492.4:c.4400del NP_000483.3:p.Leu1467fs NC_000007.14:117667064:T: p.(Leu1467ArgfsTer21) NC_000007.14:117667064:T: p.(Leu1467ArgfsTer21) NC_000007.14:117667064:T: Analogous +NM_001130103.2:c.1601G>T NP_001123575.1:p.Ser534Ile NC_000010.11:69930502:G:T p.(Ser534Ile) NC_000010.11:69930502:G:T p.(Ser534Ile) NC_000010.11:69930502:G:T Identity +NM_001142649.2:c.1155del NP_001136121.1:p.Phe385fs NC_000011.10:22250986:TTT:TT p.(Phe385LeufsTer41) NC_000011.10:22250986:TTT:TT p.(Phe385LeufsTer41) NC_000011.10:22250988:T: Analogous +LRG_1365t1:c.466C>T LRG_1365p1:p.Leu156Phe NC_000015.10:32731155:C:T ERR:Data provider error: ValueError: Transcript LRG_1365t1 not found ERR:Data provider error: ValueError: Transcript LRG_1365t1 not found ERR:AlignmentMapper(tx_ac=LRG_1365t1, alt_ac=LRG_1365t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1365t1, alt_ac=LRG_1365t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1365t1 not found +NM_001362843.2:c.5411GGA[1] NP_001349772.1:p.Arg1805del NC_000022.11:41177198:AGGAGGA:AGGA p.(Arg1805del) NC_000022.11:41177199:G:GGA ERR:Parse ERR:Parse Identity +NM_001321851.1:c.1225G>T NP_001308780.1:p.Asp409Tyr NC_000014.9:92011071:C:A p.(Asp409Tyr) NC_000014.9:92011071:C:A p.(Asp409Tyr) NC_000014.9:92011071:C:A Identity +NM_001369614.1:c.194C>T NP_001356543.1:p.Pro65Leu NC_000017.11:38739600:G:A p.(Pro65Leu) NC_000017.11:38739600:G:A p.(Pro65Leu) NC_000017.11:38739600:G:A Identity +NM_000814.6:c.898A>C NP_000805.1:p.Ile300Leu NC_000015.10:26561113:T:G p.(Ile300Leu) NC_000015.10:26561113:T:G p.(Ile300Leu) NC_000015.10:26561113:T:G Identity +NM_003331.5:c.353G>A NP_003322.3:p.Arg118Gln NC_000019.10:10368166:C:T p.(Arg118Gln) NC_000019.10:10368166:C:T p.(Arg118Gln) NC_000019.10:10368166:C:T Identity +NM_004459.7:c.5098A>C NP_004450.3:p.Asn1700His NC_000017.11:67912603:A:C p.(Asn1700His) NC_000017.11:67912603:A:C p.(Asn1700His) NC_000017.11:67912603:A:C Identity +NM_001277126.2:c.2589G>A NP_001264055.1:p.Trp863Ter NC_000019.10:53801396:C:T p.(Trp863Ter) NC_000019.10:53801396:C:T p.(Trp863Ter) NC_000019.10:53801396:C:T Identity +NM_001288705.3:c.2304C>A NP_001275634.1:p.Phe768Leu NC_000005.10:150057301:G:T p.(Phe768Leu) NC_000005.10:150057301:G:T p.(Phe768Leu) NC_000005.10:150057301:G:T Identity +NM_001330465.2:c.179G>A NP_001317394.1:p.Arg60Gln NC_000008.11:11550181:G:A p.(Arg60Gln) NC_000008.11:11550181:G:A p.(Arg60Gln) NC_000008.11:11550181:G:A Identity +NM_001126131.2:c.2984A>G NP_001119603.1:p.Tyr995Cys NC_000015.10:89319347:T:C p.(Tyr995Cys) NC_000015.10:89319347:T:C p.(Tyr995Cys) NC_000015.10:89319347:T:C Identity +NM_001126131.2:c.799G>C NP_001119603.1:p.Val267Leu NC_000015.10:89330136:C:G p.(Val267Leu) NC_000015.10:89330136:C:G p.(Val267Leu) NC_000015.10:89330136:C:G Identity +NM_000179.3:c.457G>T NP_000170.1:p.Gly153Cys NC_000002.12:47791122:G:T p.(Gly153Cys) NC_000002.12:47791122:G:T p.(Gly153Cys) NC_000002.12:47791122:G:T Identity +NM_001365276.2:c.1405G>T NP_001352205.1:p.Asp469Tyr NC_000006.12:32096447:C:A p.(Asp469Tyr) NC_000006.12:32096447:C:A p.(Asp469Tyr) NC_000006.12:32096447:C:A Identity +NM_001126054.3:c.578G>T NP_001119526.1:p.Arg193Ile NC_000023.11:41665406:C:A p.(Arg193Ile) NC_000023.11:41665406:C:A p.(Arg193Ile) NC_000023.11:41665406:C:A Identity +NM_000264.5:c.660A>G NP_000255.2:p.Ile220Met NC_000009.12:95482034:T:C p.(Ile220Met) NC_000009.12:95482034:T:C p.(Ile220Met) NC_000009.12:95482034:T:C Identity +NM_001351527.2:c.6013G>A NP_001338456.1:p.Val2005Met NC_000009.12:132295964:C:T p.(Val2005Met) NC_000009.12:132295964:C:T p.(Val2005Met) NC_000009.12:132295964:C:T Identity +NM_000277.3:c.461A>T NP_000268.1:p.Tyr154Phe NC_000012.12:102866643:T:A p.(Tyr154Phe) NC_000012.12:102866643:T:A p.(Tyr154Phe) NC_000012.12:102866643:T:A Identity +NM_002185.5:c.160T>C NP_002176.2:p.Ser54Pro NC_000005.10:35860928:T:C p.(Ser54Pro) NC_000005.10:35860928:T:C p.(Ser54Pro) NC_000005.10:35860928:T:C Identity +NM_001271.4:c.2707A>G NP_001262.3:p.Arg903Gly NC_000015.10:92978362:A:G p.(Arg903Gly) NC_000015.10:92978362:A:G p.(Arg903Gly) NC_000015.10:92978362:A:G Identity +NM_000367.5:c.234G>T NP_000358.1:p.Trp78Cys NC_000006.12:18143727:C:A p.(Trp78Cys) NC_000006.12:18143727:C:A p.(Trp78Cys) NC_000006.12:18143727:C:A Identity +NM_000551.4:c.232A>C NP_000542.1:p.Asn78His NC_000003.12:10142078:A:C p.(Asn78His) NC_000003.12:10142078:A:C p.(Asn78His) NC_000003.12:10142078:A:C Identity +NM_000277.3:c.1102G>A NP_000268.1:p.Glu368Lys NC_000012.12:102843742:C:T p.(Glu368Lys) NC_000012.12:102843742:C:T p.(Glu368Lys) NC_000012.12:102843742:C:T Identity +NM_006160.4:c.401T>C NP_006151.3:p.Met134Thr NC_000017.11:39606198:A:G p.(Met134Thr) NC_000017.11:39606198:A:G p.(Met134Thr) NC_000017.11:39606198:A:G Identity +NM_018190.4:c.763A>T NP_060660.2:p.Lys255Ter NC_000004.12:121853041:T:A p.(Lys255Ter) NC_000004.12:121853041:T:A p.(Lys255Ter) NC_000004.12:121853041:T:A Identity +NM_001317799.2:c.385C>T NP_001304728.1:p.Gln129Ter NC_000004.12:122929138:C:T p.(Gln129Ter) NC_000004.12:122929138:C:T p.(Gln129Ter) NC_000004.12:122929138:C:T Identity +NM_001048171.2:c.1417C>T NP_001041636.2:p.Gln473Ter NC_000001.11:45330532:G:A p.(Gln473Ter) NC_000001.11:45330532:G:A p.(Gln473Ter) NC_000001.11:45330532:G:A Identity +NM_001270399.2:c.410T>A NP_001257328.1:p.Val137Asp NC_000012.12:49185955:A:T p.(Val137Asp) NC_000012.12:49185955:A:T p.(Val137Asp) NC_000012.12:49185955:A:T Identity +NM_001270399.2:c.808G>A NP_001257328.1:p.Ala270Thr NC_000012.12:49185557:C:T p.(Ala270Thr) NC_000012.12:49185557:C:T p.(Ala270Thr) NC_000012.12:49185557:C:T Identity +NM_003005.4:c.1195T>C NP_002996.2:p.Cys399Arg NC_000001.11:169609641:A:G p.(Cys399Arg) NC_000001.11:169609641:A:G p.(Cys399Arg) NC_000001.11:169609641:A:G Identity +NM_003482.4:c.4262G>A NP_003473.3:p.Gly1421Asp NC_000012.12:49046764:C:T p.(Gly1421Asp) NC_000012.12:49046764:C:T p.(Gly1421Asp) NC_000012.12:49046764:C:T Identity +NM_001355019.2:c.178C>T NP_001341948.1:p.Gln60Ter NC_000005.10:134201960:G:A p.(Gln60Ter) NC_000005.10:134201960:G:A p.(Gln60Ter) NC_000005.10:134201960:G:A Identity +NM_001270399.2:c.302A>G NP_001257328.1:p.Asn101Ser NC_000012.12:49186382:T:C p.(Asn101Ser) NC_000012.12:49186382:T:C p.(Asn101Ser) NC_000012.12:49186382:T:C Identity +NM_001372044.2:c.3848del NP_001358973.1:p.Gly1283fs NC_000022.11:50721454:GG:G p.(Ser1284AlafsTer62) NC_000022.11:50721493:CCC:CC p.(Ser1284AlafsTer62) NC_000022.11:50721494:C: Analogous +NM_000138.5:c.4462G>T NP_000129.3:p.Val1488Leu NC_000015.10:48468531:C:A p.(Val1488Leu) NC_000015.10:48468531:C:A p.(Val1488Leu) NC_000015.10:48468531:C:A Identity +NM_001134418.2:c.829C>T NP_001127890.1:p.Gln277Ter NC_000003.12:189974637:G:A p.(Gln277Ter) NC_000003.12:189974637:G:A p.(Gln277Ter) NC_000003.12:189974637:G:A Identity +LRG_199t1:c.4546A>T LRG_199p1:p.Lys1516Ter NC_000023.11:32386437:T:A ERR:Data provider error: ValueError: Transcript LRG_199t1 not found ERR:Data provider error: ValueError: Transcript LRG_199t1 not found ERR:AlignmentMapper(tx_ac=LRG_199t1, alt_ac=LRG_199t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_199t1, alt_ac=LRG_199t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_199t1 not found +NM_001363734.1:c.1894C>T NP_001350663.1:p.Arg632Ter NC_000020.11:32434788:C:T p.(Arg632Ter) NC_000020.11:32434788:C:T p.(Arg632Ter) NC_000020.11:32434788:C:T Identity +NM_001136193.2:c.849C>A NP_001129665.1:p.Cys283Ter NC_000002.12:206770161:C:A p.(Cys283Ter) NC_000002.12:206770161:C:A p.(Cys283Ter) NC_000002.12:206770161:C:A Identity +NM_001178074.2:c.30T>A NP_001171545.1:p.Cys10Ter NC_000012.12:66678874:A:T p.(Cys10Ter) NC_000012.12:66678874:A:T p.(Cys10Ter) NC_000012.12:66678874:A:T Identity +NM_001199107.2:c.971C>A NP_001186036.1:p.Ser324Ter NC_000016.10:2497714:C:A p.(Ser324Ter) NC_000016.10:2497714:C:A p.(Ser324Ter) NC_000016.10:2497714:C:A Identity +NM_001256182.2:c.7711C>T NP_001243111.1:p.Gln2571Ter NC_000016.10:89274815:G:A p.(Gln2571Ter) NC_000016.10:89274815:G:A p.(Gln2571Ter) NC_000016.10:89274815:G:A Identity +NM_001083961.2:c.1157G>A NP_001077430.1:p.Trp386Ter NC_000019.10:36073454:G:A p.(Trp386Ter) NC_000019.10:36073454:G:A p.(Trp386Ter) NC_000019.10:36073454:G:A Identity +NM_001367830.1:c.387C>G NP_001354759.1:p.Tyr129Ter NC_000019.10:11252238:G:C p.(Tyr129Ter) NC_000019.10:11252238:G:C p.(Tyr129Ter) NC_000019.10:11252238:G:C Identity +NM_001288721.2:c.652C>T NP_001275650.1:p.Arg218Ter NC_000011.10:62616741:G:A p.(Arg218Ter) NC_000011.10:62616741:G:A p.(Arg218Ter) NC_000011.10:62616741:G:A Identity +NM_000264.5:c.209C>T NP_000255.2:p.Ala70Val NC_000009.12:95506591:G:A p.(Ala70Val) NC_000009.12:95506591:G:A p.(Ala70Val) NC_000009.12:95506591:G:A Identity +NM_001377289.1:c.1009C>T NP_001364218.1:p.Gln337Ter NC_000006.12:70254486:G:A p.(Gln337Ter) NC_000006.12:70254486:G:A p.(Gln337Ter) NC_000006.12:70254486:G:A Identity +NM_007186.6:c.361C>T NP_009117.2:p.Arg121Ter NC_000020.11:35466072:C:T p.(Arg121Ter) NC_000020.11:35466072:C:T p.(Arg121Ter) NC_000020.11:35466072:C:T Identity +NM_000033.4:c.1165C>T NP_000024.2:p.Arg389Cys NC_000023.11:153736194:C:T p.(Arg389Cys) NC_000023.11:153736194:C:T p.(Arg389Cys) NC_000023.11:153736194:C:T Identity +NM_000135.4:c.2533_2536del NP_000126.2:p.Leu845fs NC_000016.10:89767205:AGAGAGAG:AGAG p.(Leu845AlafsTer43) NC_000016.10:89767205:AGAGAGAG:AGAG p.(Leu845AlafsTer43) NC_000016.10:89767205:AGAG: Analogous +NM_001377295.2:c.808AAG[1] NP_001364224.1:p.Lys271del NC_000001.11:109604011:CTTCTT:CTT p.(Lys271del) NC_000001.11:109604016:T:CTT ERR:Parse ERR:Parse Identity +NM_001282917.2:c.1258T>C NP_001269846.1:p.Ser420Pro NC_000020.11:38517840:T:C p.(Ser420Pro) NC_000020.11:38517840:T:C p.(Ser420Pro) NC_000020.11:38517840:T:C Identity +NM_006516.4:c.278G>A NP_006507.2:p.Arg93Gln NC_000001.11:42930863:C:T p.(Arg93Gln) NC_000001.11:42930863:C:T p.(Arg93Gln) NC_000001.11:42930863:C:T Identity +NM_004974.4:c.1250A>G NP_004965.1:p.Tyr417Cys NC_000001.11:110603532:T:C p.(Tyr417Cys) NC_000001.11:110603532:T:C p.(Tyr417Cys) NC_000001.11:110603532:T:C Identity +NM_002335.4:c.523C>T NP_002326.2:p.Arg175Trp NC_000011.10:68357683:C:T p.(Arg175Trp) NC_000011.10:68357683:C:T p.(Arg175Trp) NC_000011.10:68357683:C:T Identity +NM_003850.3:c.920C>T NP_003841.1:p.Ala307Val NC_000013.11:47954439:G:A p.(Ala307Val) NC_000013.11:47954439:G:A p.(Ala307Val) NC_000013.11:47954439:G:A Identity +NM_007123.6:c.2444G>C NP_009054.6:p.Cys815Ser NC_000001.11:216246949:C:G p.(Cys815Ser) NC_000001.11:216246949:C:G p.(Cys815Ser) NC_000001.11:216246949:C:G Identity +NM_018026.4:c.1098G>C NP_060496.2:p.Leu366Phe NC_000011.10:66220689:G:C p.(Leu366Phe) NC_000011.10:66220689:G:C p.(Leu366Phe) NC_000011.10:66220689:G:C Identity +NM_001376.5:c.11558C>G NP_001367.2:p.Thr3853Arg NC_000014.9:102039508:C:G p.(Thr3853Arg) NC_000014.9:102039508:C:G p.(Thr3853Arg) NC_000014.9:102039508:C:G Identity +NM_001605.3:c.976C>T NP_001596.2:p.Arg326Trp NC_000016.10:70268365:G:A p.(Arg326Trp) NC_000016.10:70268365:G:A p.(Arg326Trp) NC_000016.10:70268365:G:A Identity +NM_000180.4:c.337G>A NP_000171.1:p.Ala113Thr NC_000017.11:8003383:G:A p.(Ala113Thr) NC_000017.11:8003383:G:A p.(Ala113Thr) NC_000017.11:8003383:G:A Identity +NM_015657.4:c.2527A>T NP_056472.2:p.Met843Leu NC_000002.12:214990844:T:A p.(Met843Leu) NC_000002.12:214990844:T:A p.(Met843Leu) NC_000002.12:214990844:T:A Identity +NM_019098.5:c.2313_2315del NP_061971.3:p.Arg772del NC_000008.11:86575918:CTTCT:CT p.(Arg772del) NC_000008.11:86575918:CTTCT:CT p.(Arg772del) NC_000008.11:86575918:CTT: Identity +NM_001282607.2:c.848A>G NP_001269536.1:p.Lys283Arg NC_000023.11:131084992:A:G p.(Lys283Arg) NC_000023.11:131084992:A:G p.(Lys283Arg) NC_000023.11:131084992:A:G Identity +NM_000138.5:c.2557T>C NP_000129.3:p.Cys853Arg NC_000015.10:48495242:A:G p.(Cys853Arg) NC_000015.10:48495242:A:G p.(Cys853Arg) NC_000015.10:48495242:A:G Identity +NM_022100.3:c.322C>T NP_071383.1:p.Arg108Cys NC_000001.11:175014733:G:A p.(Arg108Cys) NC_000001.11:175014733:G:A p.(Arg108Cys) NC_000001.11:175014733:G:A Identity +NM_000551.4:c.201C>A NP_000542.1:p.Asn67Lys NC_000003.12:10142047:C:A p.(Asn67Lys) NC_000003.12:10142047:C:A p.(Asn67Lys) NC_000003.12:10142047:C:A Identity +NM_000551.4:c.585_606dup NP_000542.1:p.Gln203fs NC_000003.12:10149905:CAGAAAGACCTGGAGCGGCTGACA:CAGAAAGACCTGGAGCGGCTGACAGAAAGACCTGGAGCGGCTGACA p.(Gln203GlufsTer60) NC_000003.12:10149905:CAGAAAGACCTGGAGCGGCTGACA:CAGAAAGACCTGGAGCGGCTGACAGAAAGACCTGGAGCGGCTGACA p.(Gln203GlufsTer60) ERR:SPDI Analogous +NM_001270399.2:c.1306G>C NP_001257328.1:p.Gly436Arg NC_000012.12:49185059:C:G p.(Gly436Arg) NC_000012.12:49185059:C:G p.(Gly436Arg) NC_000012.12:49185059:C:G Identity +NM_001369369.1:c.382C>T NP_001356298.1:p.Arg128Trp NC_000017.11:28524760:C:T p.(Arg128Trp) NC_000017.11:28524760:C:T p.(Arg128Trp) NC_000017.11:28524760:C:T Identity +NM_181504.4:c.18G>T NP_852556.2:p.Trp6Cys NC_000005.10:68290745:G:T p.(Trp6Cys) NC_000005.10:68290745:G:T p.(Trp6Cys) NC_000005.10:68290745:G:T Identity +NM_001177984.3:c.71A>G NP_001171455.1:p.Asn24Ser NC_000012.12:51662887:A:G p.(Asn24Ser) NC_000012.12:51662887:A:G p.(Asn24Ser) NC_000012.12:51662887:A:G Identity +NM_014639.4:c.3885G>T NP_055454.1:p.Lys1295Asn NC_000005.10:95490953:C:A p.(Lys1295Asn) NC_000005.10:95490953:C:A p.(Lys1295Asn) NC_000005.10:95490953:C:A Identity +NM_001370528.1:c.1949C>T NP_001357457.1:p.Ala650Val NC_000003.12:64099636:G:A p.(Ala650Val) NC_000003.12:64099636:G:A p.(Ala650Val) NC_000003.12:64099636:G:A Identity +NM_014639.4:c.4310G>T NP_055454.1:p.Ser1437Ile NC_000005.10:95478344:C:A p.(Ser1437Ile) NC_000005.10:95478344:C:A p.(Ser1437Ile) NC_000005.10:95478344:C:A Identity +NM_000280.6:c.266A>C NP_000271.1:p.Gln89Pro NC_000011.10:31801651:T:G p.(Gln89Pro) NC_000011.10:31801651:T:G p.(Gln89Pro) NC_000011.10:31801651:T:G Identity +NM_001385678.1:c.1196G>A NP_001372607.1:p.Arg399Gln NC_000019.10:4817139:C:T p.(Arg399Gln) NC_000019.10:4817139:C:T p.(Arg399Gln) NC_000019.10:4817139:C:T Identity +NM_000295.5:c.1014T>A NP_000286.3:p.Asn338Lys NC_000014.9:94379514:A:T p.(Asn338Lys) NC_000014.9:94379514:A:T p.(Asn338Lys) NC_000014.9:94379514:A:T Identity +NM_001282424.3:c.755C>T NP_001269353.2:p.Pro252Leu NC_000012.12:8850267:C:T p.(Pro252Leu) NC_000012.12:8850267:C:T p.(Pro252Leu) NC_000012.12:8850267:C:T Identity +LRG_1234t1:c.1370T>C LRG_1234p1:p.Leu457Pro NC_000018.10:45951120:A:G ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +NM_001256850.1:c.34258A>G NP_001243779.1:p.Thr11420Ala NC_000002.12:178670223:T:C p.(Thr11420Ala) NC_000002.12:178670223:T:C p.(Thr11420Ala) NC_000002.12:178670223:T:C Identity +NM_001256850.1:c.11292A>T NP_001243779.1:p.Lys3764Asn NC_000002.12:178740989:T:A p.(Lys3764Asn) NC_000002.12:178740989:T:A p.(Lys3764Asn) NC_000002.12:178740989:T:A Identity +NM_001256850.1:c.1246G>A NP_001243779.1:p.Val416Met NC_000002.12:178794550:C:T p.(Val416Met) NC_000002.12:178794550:C:T p.(Val416Met) NC_000002.12:178794550:C:T Identity +NM_001103.4:c.1524G>T NP_001094.1:p.Glu508Asp NC_000001.11:236749131:G:T p.(Glu508Asp) NC_000001.11:236749131:G:T p.(Glu508Asp) NC_000001.11:236749131:G:T Identity +NM_001256850.1:c.91366A>G NP_001243779.1:p.Thr30456Ala NC_000002.12:178543854:T:C p.(Thr30456Ala) NC_000002.12:178543854:T:C p.(Thr30456Ala) NC_000002.12:178543854:T:C Identity +NM_001256850.1:c.32200C>T NP_001243779.1:p.Pro10734Ser NC_000002.12:178681681:G:A p.(Pro10734Ser) NC_000002.12:178681681:G:A p.(Pro10734Ser) NC_000002.12:178681681:G:A Identity +NM_001080114.2:c.5C>A NP_001073583.1:p.Ser2Tyr NC_000010.11:86668695:C:A p.(Ser2Tyr) NC_000010.11:86668695:C:A p.(Ser2Tyr) NC_000010.11:86668695:C:A Identity +NM_004415.4:c.4312T>C NP_004406.2:p.Ser1438Pro NC_000006.12:7580501:T:C p.(Ser1438Pro) NC_000006.12:7580501:T:C p.(Ser1438Pro) NC_000006.12:7580501:T:C Identity +NM_000257.4:c.4427C>T NP_000248.2:p.Ser1476Phe NC_000014.9:23417244:G:A p.(Ser1476Phe) NC_000014.9:23417244:G:A p.(Ser1476Phe) NC_000014.9:23417244:G:A Identity +NM_001407571.1:c.3477dup NP_001394500.1:p.Phe1160fs NC_000017.11:43091840:T:TT p.(Phe1160IlefsTer3) NC_000017.11:43091840:T:TT p.(Phe1160IlefsTer3) ERR:SPDI Analogous +NM_000504.4:c.1237G>A NP_000495.1:p.Asp413Asn NC_000013.11:113149286:G:A p.(Asp413Asn) NC_000013.11:113149286:G:A p.(Asp413Asn) NC_000013.11:113149286:G:A Identity +LRG_1122t1:c.4952C>T LRG_1122p1:p.Ser1651Leu NC_000009.12:136504738:G:A ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_000419.5:c.2344C>T NP_000410.2:p.Arg782Ter NC_000017.11:44376311:G:A p.(Arg782Ter) NC_000017.11:44376311:G:A p.(Arg782Ter) NC_000017.11:44376311:G:A Identity +NM_001102.4:c.136C>T NP_001093.1:p.Arg46Trp NC_000014.9:68925641:G:A p.(Arg46Trp) NC_000014.9:68925641:G:A p.(Arg46Trp) NC_000014.9:68925641:G:A Identity +NM_000133.4:c.276del NP_000124.1:p.Asp93fs NC_000023.11:139537383:TT:T p.(Asp93MetfsTer11) NC_000023.11:139537383:TT:T p.(Asp93MetfsTer11) NC_000023.11:139537384:T: Analogous +NM_000419.5:c.2883del NP_000410.2:p.Phe961fs NC_000017.11:44374718:G: p.(Phe961LeufsTer?) NC_000017.11:44374718:G: p.(Phe961LeufsTer?) NC_000017.11:44374718:G: Analogous +NM_000138.5:c.176G>A NP_000129.3:p.Cys59Tyr NC_000015.10:48613080:C:T p.(Cys59Tyr) NC_000015.10:48613080:C:T p.(Cys59Tyr) NC_000015.10:48613080:C:T Identity +NM_000934.4:c.561_565del NP_000925.2:p.Lys189fs NC_000017.11:1747357:GGCAA: p.(Lys189ArgfsTer10) NC_000017.11:1747357:GGCAA: p.(Lys189ArgfsTer10) NC_000017.11:1747357:GGCAA: Analogous +NM_000312.4:c.76G>A NP_000303.1:p.Val26Met NC_000002.12:127421287:G:A p.(Val26Met) NC_000002.12:127421287:G:A p.(Val26Met) NC_000002.12:127421287:G:A Identity +NM_000488.4:c.851T>A NP_000479.1:p.Met284Lys NC_000001.11:173909853:A:T p.(Met284Lys) NC_000001.11:173909853:A:T p.(Met284Lys) NC_000001.11:173909853:A:T Identity +NM_000128.4:c.365G>A NP_000119.1:p.Gly122Asp NC_000004.12:186274154:G:A p.(Gly122Asp) NC_000004.12:186274154:G:A p.(Gly122Asp) NC_000004.12:186274154:G:A Identity +NM_000509.6:c.185T>C NP_000500.2:p.Val62Ala NC_000004.12:154612139:A:G p.(Val62Ala) NC_000004.12:154612139:A:G p.(Val62Ala) NC_000004.12:154612139:A:G Identity +NM_000130.5:c.1321C>T NP_000121.2:p.Arg441Cys NC_000001.11:169550714:G:A p.(Arg441Cys) NC_000001.11:169550714:G:A p.(Arg441Cys) NC_000001.11:169550714:G:A Identity +LRG_553t1:c.4862G>A LRG_553p1:p.Arg1621Gln NC_000001.11:169536614:C:T ERR:Data provider error: ValueError: Transcript LRG_553t1 not found ERR:Data provider error: ValueError: Transcript LRG_553t1 not found ERR:AlignmentMapper(tx_ac=LRG_553t1, alt_ac=LRG_553t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_553t1, alt_ac=LRG_553t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_553t1 not found +NM_001105513.3:c.341A>G NP_001098983.2:p.Tyr114Cys NC_000003.12:39110922:A:G p.(Tyr114Cys) NC_000003.12:39110922:A:G p.(Tyr114Cys) NC_000003.12:39110922:A:G Identity +NM_005430.4:c.754G>C NP_005421.1:p.Gly252Arg NC_000012.12:48981280:G:C p.(Gly252Arg) NC_000012.12:48981280:G:C p.(Gly252Arg) NC_000012.12:48981280:G:C Identity +NM_000313.4:c.1451A>G NP_000304.2:p.Tyr484Cys NC_000003.12:93884768:T:C p.(Tyr484Cys) NC_000003.12:93884768:T:C p.(Tyr484Cys) NC_000003.12:93884768:T:C Identity +NM_030773.4:c.421G>C NP_110400.1:p.Gly141Arg NC_000020.11:59023847:G:C p.(Gly141Arg) NC_000020.11:59023847:G:C p.(Gly141Arg) NC_000020.11:59023847:G:C Identity +NM_000312.4:c.524G>A NP_000303.1:p.Cys175Tyr NC_000002.12:127423396:G:A p.(Cys175Tyr) NC_000002.12:127423396:G:A p.(Cys175Tyr) NC_000002.12:127423396:G:A Identity +NM_000132.4:c.6685C>T NP_000123.1:p.Leu2229Phe NC_000023.11:154861755:G:A p.(Leu2229Phe) NC_000023.11:154861755:G:A p.(Leu2229Phe) NC_000023.11:154861755:G:A Identity +NM_017917.4:c.308T>C NP_060387.2:p.Leu103Pro NC_000014.9:35109914:A:G p.(Leu103Pro) NC_000014.9:35109914:A:G p.(Leu103Pro) NC_000014.9:35109914:A:G Identity +NM_000132.4:c.6592G>A NP_000123.1:p.Gly2198Arg NC_000023.11:154861848:C:T p.(Gly2198Arg) NC_000023.11:154861848:C:T p.(Gly2198Arg) NC_000023.11:154861848:C:T Identity +NM_000130.5:c.911G>A NP_000121.2:p.Gly304Glu NC_000001.11:169556686:C:T p.(Gly304Glu) NC_000001.11:169556686:C:T p.(Gly304Glu) NC_000001.11:169556686:C:T Identity +NM_032119.4:c.2320G>T NP_115495.3:p.Gly774Ter NC_000005.10:90642714:G:T p.(Gly774Ter) NC_000005.10:90642714:G:T p.(Gly774Ter) NC_000005.10:90642714:G:T Identity +NM_001347721.2:c.945T>A NP_001334650.1:p.Ser315Arg NC_000021.9:37493036:T:A p.(Ser315Arg) NC_000021.9:37493036:T:A p.(Ser315Arg) NC_000021.9:37493036:T:A Identity +NM_001317184.2:c.1745A>G NP_001304113.1:p.Asn582Ser NC_000016.10:68822216:A:G p.(Asn582Ser) NC_000016.10:68822216:A:G p.(Asn582Ser) NC_000016.10:68822216:A:G Identity +NM_000038.6:c.4621C>A NP_000029.2:p.Gln1541Lys NC_000005.10:112840214:C:A p.(Gln1541Lys) NC_000005.10:112840214:C:A p.(Gln1541Lys) NC_000005.10:112840214:C:A Identity +NM_004656.4:c.1514C>T NP_004647.1:p.Ser505Leu NC_000003.12:52403630:G:A p.(Ser505Leu) NC_000003.12:52403630:G:A p.(Ser505Leu) NC_000003.12:52403630:G:A Identity +NM_000132.4:c.1894del NP_000123.1:p.Ile632fs NC_000023.11:154953900:T: p.(Ile632SerfsTer28) NC_000023.11:154953900:T: p.(Ile632SerfsTer28) NC_000023.11:154953900:T: Analogous +NM_001321193.3:c.1336T>C NP_001308122.1:p.Tyr446His NC_000003.12:177033050:A:G p.(Tyr446His) NC_000003.12:177033050:A:G p.(Tyr446His) NC_000003.12:177033050:A:G Identity +NM_000441.2:c.1746del NP_000432.1:p.Ala584fs NC_000007.14:107701138:G: p.(Ala584ArgfsTer2) NC_000007.14:107701138:G: p.(Ala584ArgfsTer2) NC_000007.14:107701138:G: Analogous +NM_000059.4:c.6437A>G NP_000050.3:p.Asn2146Ser NC_000013.11:32340791:A:G p.(Asn2146Ser) NC_000013.11:32340791:A:G p.(Asn2146Ser) NC_000013.11:32340791:A:G Identity +NM_001408473.1:c.499A>G NP_001395402.1:p.Lys167Glu NC_000017.11:43099819:T:C p.(Lys167Glu) NC_000017.11:43099819:T:C p.(Lys167Glu) NC_000017.11:43099819:T:C Identity +NM_000059.4:c.9702G>A NP_000050.3:p.Met3234Ile NC_000013.11:32398214:G:A p.(Met3234Ile) NC_000013.11:32398214:G:A p.(Met3234Ile) NC_000013.11:32398214:G:A Identity +NM_001024688.3:c.1029A>T NP_001019859.1:p.Arg343Ser NC_000008.11:89955404:T:A p.(Arg343Ser) NC_000008.11:89955404:T:A p.(Arg343Ser) NC_000008.11:89955404:T:A Identity +NM_000251.3:c.2795T>G NP_000242.1:p.Val932Gly NC_000002.12:47482938:T:G p.(Val932Gly) NC_000002.12:47482938:T:G p.(Val932Gly) NC_000002.12:47482938:T:G Identity +NM_001330360.2:c.4160C>T NP_001317289.1:p.Pro1387Leu NC_000023.11:24888117:C:T p.(Pro1387Leu) NC_000023.11:24888117:C:T p.(Pro1387Leu) NC_000023.11:24888117:C:T Identity +NM_000051.4:c.1670T>G NP_000042.3:p.Met557Arg NC_000011.10:108251898:T:G p.(Met557Arg) NC_000011.10:108251898:T:G p.(Met557Arg) NC_000011.10:108251898:T:G Identity +NM_000179.3:c.866G>A NP_000170.1:p.Gly289Asp NC_000002.12:47798848:G:A p.(Gly289Asp) NC_000002.12:47798848:G:A p.(Gly289Asp) NC_000002.12:47798848:G:A Identity +NM_000527.5:c.2563C>A NP_000518.1:p.Leu855Met NC_000019.10:11131295:C:A p.(Leu855Met) NC_000019.10:11131295:C:A p.(Leu855Met) NC_000019.10:11131295:C:A Identity +LRG_402t1:c.2045C>G LRG_402p1:p.Thr682Arg NC_000001.11:237496593:C:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_024675.4:c.3458C>T NP_078951.2:p.Pro1153Leu NC_000016.10:23603561:G:A p.(Pro1153Leu) NC_000016.10:23603561:G:A p.(Pro1153Leu) NC_000016.10:23603561:G:A Identity +NM_032043.3:c.754A>G NP_114432.2:p.Thr252Ala NC_000017.11:61808630:T:C p.(Thr252Ala) NC_000017.11:61808630:T:C p.(Thr252Ala) NC_000017.11:61808630:T:C Identity +NM_004360.5:c.1210C>G NP_004351.1:p.Pro404Ala NC_000016.10:68813384:C:G p.(Pro404Ala) NC_000016.10:68813384:C:G p.(Pro404Ala) NC_000016.10:68813384:C:G Identity +NM_032043.3:c.1255C>G NP_114432.2:p.Arg419Gly NC_000017.11:61799184:G:C p.(Arg419Gly) NC_000017.11:61799184:G:C p.(Arg419Gly) NC_000017.11:61799184:G:C Identity +NM_000535.7:c.662C>G NP_000526.2:p.Pro221Arg NC_000007.14:5999150:G:C p.(Pro221Arg) NC_000007.14:5999150:G:C p.(Pro221Arg) NC_000007.14:5999150:G:C Identity +NM_024675.4:c.3470A>C NP_078951.2:p.Gln1157Pro NC_000016.10:23603549:T:G p.(Gln1157Pro) NC_000016.10:23603549:T:G p.(Gln1157Pro) NC_000016.10:23603549:T:G Identity +NM_000179.3:c.357C>A NP_000170.1:p.Phe119Leu NC_000002.12:47791022:C:A p.(Phe119Leu) NC_000002.12:47791022:C:A p.(Phe119Leu) NC_000002.12:47791022:C:A Identity +NM_024675.4:c.2522C>T NP_078951.2:p.Thr841Ile NC_000016.10:23629267:G:A p.(Thr841Ile) NC_000016.10:23629267:G:A p.(Thr841Ile) NC_000016.10:23629267:G:A Identity +NM_001317184.2:c.2348G>C NP_001304113.1:p.Ser783Thr NC_000016.10:68833380:G:C p.(Ser783Thr) NC_000016.10:68833380:G:C p.(Ser783Thr) NC_000016.10:68833380:G:C Identity +NM_000059.4:c.6436A>C NP_000050.3:p.Asn2146His NC_000013.11:32340790:A:C p.(Asn2146His) NC_000013.11:32340790:A:C p.(Asn2146His) NC_000013.11:32340790:A:C Identity +NM_000251.3:c.173T>C NP_000242.1:p.Phe58Ser NC_000002.12:47403363:T:C p.(Phe58Ser) NC_000002.12:47403363:T:C p.(Phe58Ser) NC_000002.12:47403363:T:C Identity +NM_001035.3:c.8818_8819del NP_001026.2:p.Ile2940fs NC_000001.11:237674830:TATAT:TAT p.(Ile2940ProfsTer4) NC_000001.11:237674830:TATAT:TAT p.(Ile2940ProfsTer4) NC_000001.11:237674833:AT: Analogous +NM_058216.3:c.416C>T NP_478123.1:p.Ala139Val NC_000017.11:58696703:C:T p.(Ala139Val) NC_000017.11:58696703:C:T p.(Ala139Val) NC_000017.11:58696703:C:T Identity +NM_000059.4:c.6293C>G NP_000050.3:p.Ser2098Cys NC_000013.11:32340647:C:G p.(Ser2098Cys) NC_000013.11:32340647:C:G p.(Ser2098Cys) NC_000013.11:32340647:C:G Identity +NM_000179.3:c.200C>T NP_000170.1:p.Pro67Leu NC_000002.12:47783432:C:T p.(Pro67Leu) NC_000002.12:47783432:C:T p.(Pro67Leu) NC_000002.12:47783432:C:T Identity +NM_000051.4:c.1195C>T NP_000042.3:p.His399Tyr NC_000011.10:108249061:C:T p.(His399Tyr) NC_000011.10:108249061:C:T p.(His399Tyr) NC_000011.10:108249061:C:T Identity +NM_000059.4:c.1222A>G NP_000050.3:p.Met408Val NC_000013.11:32332699:A:G p.(Met408Val) NC_000013.11:32332699:A:G p.(Met408Val) NC_000013.11:32332699:A:G Identity +NM_000257.4:c.4063G>A NP_000248.2:p.Ala1355Thr NC_000014.9:23418315:C:T p.(Ala1355Thr) NC_000014.9:23418315:C:T p.(Ala1355Thr) NC_000014.9:23418315:C:T Identity +NM_000179.3:c.1436A>C NP_000170.1:p.Lys479Thr NC_000002.12:47799418:A:C p.(Lys479Thr) NC_000002.12:47799418:A:C p.(Lys479Thr) NC_000002.12:47799418:A:C Identity +NM_000059.4:c.7722G>T NP_000050.3:p.Trp2574Cys NC_000013.11:32357845:G:T p.(Trp2574Cys) NC_000013.11:32357845:G:T p.(Trp2574Cys) NC_000013.11:32357845:G:T Identity +NM_000251.3:c.443T>C NP_000242.1:p.Val148Ala NC_000002.12:47410169:T:C p.(Val148Ala) NC_000002.12:47410169:T:C p.(Val148Ala) NC_000002.12:47410169:T:C Identity +NM_000059.4:c.9785A>C NP_000050.3:p.Gln3262Pro NC_000013.11:32398297:A:C p.(Gln3262Pro) NC_000013.11:32398297:A:C p.(Gln3262Pro) NC_000013.11:32398297:A:C Identity +NM_000038.6:c.4042A>G NP_000029.2:p.Arg1348Gly NC_000005.10:112839635:A:G p.(Arg1348Gly) NC_000005.10:112839635:A:G p.(Arg1348Gly) NC_000005.10:112839635:A:G Identity +NM_000249.4:c.1354A>G NP_000240.1:p.Thr452Ala NC_000003.12:37025951:A:G p.(Thr452Ala) NC_000003.12:37025951:A:G p.(Thr452Ala) NC_000003.12:37025951:A:G Identity +NM_001005242.3:c.1519G>A NP_001005242.2:p.Asp507Asn NC_000012.12:32841064:C:T p.(Asp507Asn) NC_000012.12:32841064:C:T p.(Asp507Asn) NC_000012.12:32841064:C:T Identity +LRG_297t1:c.2318T>C LRG_297p1:p.Leu773Pro NC_000002.12:214728691:A:G ERR:Data provider error: ValueError: Transcript LRG_297t1 not found ERR:Data provider error: ValueError: Transcript LRG_297t1 not found ERR:AlignmentMapper(tx_ac=LRG_297t1, alt_ac=LRG_297t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_297t1, alt_ac=LRG_297t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_297t1 not found +LRG_386t1:c.2447A>G LRG_386p1:p.Tyr816Cys NC_000011.10:47337545:T:C ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001005242.3:c.983G>C NP_001005242.2:p.Gly328Ala NC_000012.12:32877896:C:G p.(Gly328Ala) NC_000012.12:32877896:C:G p.(Gly328Ala) NC_000012.12:32877896:C:G Identity +NM_001407965.1:c.1172G>A NP_001394894.1:p.Gly391Asp NC_000017.11:43093854:C:T p.(Gly391Asp) NC_000017.11:43093854:C:T p.(Gly391Asp) NC_000017.11:43093854:C:T Identity +NM_000051.4:c.4945G>A NP_000042.3:p.Val1649Ile NC_000011.10:108297321:G:A p.(Val1649Ile) NC_000011.10:108297321:G:A p.(Val1649Ile) NC_000011.10:108297321:G:A Identity +NM_024675.4:c.2174C>T NP_078951.2:p.Ser725Leu NC_000016.10:23629979:G:A p.(Ser725Leu) NC_000016.10:23629979:G:A p.(Ser725Leu) NC_000016.10:23629979:G:A Identity +NM_001407240.1:c.1550G>A NP_001394169.1:p.Arg517His NC_000001.11:55058570:G:A p.(Arg517His) NC_000001.11:55058570:G:A p.(Arg517His) NC_000001.11:55058570:G:A Identity +NM_000384.3:c.5164G>A NP_000375.3:p.Asp1722Asn NC_000002.12:21011703:C:T p.(Asp1722Asn) NC_000002.12:21011703:C:T p.(Asp1722Asn) NC_000002.12:21011703:C:T Identity +NM_000314.8:c.184A>G NP_000305.3:p.Lys62Glu NC_000010.11:87925531:A:G p.(Lys62Glu) NC_000010.11:87925531:A:G p.(Lys62Glu) NC_000010.11:87925531:A:G Identity +NM_000179.3:c.367A>G NP_000170.1:p.Lys123Glu NC_000002.12:47791032:A:G p.(Lys123Glu) NC_000002.12:47791032:A:G p.(Lys123Glu) NC_000002.12:47791032:A:G Identity +NM_001407571.1:c.1057G>A NP_001394500.1:p.Gly353Ser NC_000017.11:43094260:C:T p.(Gly353Ser) NC_000017.11:43094260:C:T p.(Gly353Ser) NC_000017.11:43094260:C:T Identity +NM_000238.4:c.3453C>A NP_000229.1:p.His1151Gln NC_000007.14:150945391:G:T p.(His1151Gln) NC_000007.14:150945391:G:T p.(His1151Gln) NC_000007.14:150945391:G:T Identity +NM_001040113.2:c.3826A>G NP_001035202.1:p.Ser1276Gly NC_000016.10:15726900:T:C p.(Ser1276Gly) NC_000016.10:15726900:T:C p.(Ser1276Gly) NC_000016.10:15726900:T:C Identity +NM_001407677.1:c.1086del NP_001394606.1:p.Glu363fs NC_000017.11:43094321:A: p.(Glu363AsnfsTer6) NC_000017.11:43094321:A: p.(Glu363AsnfsTer6) NC_000017.11:43094321:A: Analogous +NM_004656.4:c.1810G>T NP_004647.1:p.Val604Leu NC_000003.12:52403217:C:A p.(Val604Leu) NC_000003.12:52403217:C:A p.(Val604Leu) NC_000003.12:52403217:C:A Identity +NM_024675.4:c.170G>C NP_078951.2:p.Cys57Ser NC_000016.10:23637890:C:G p.(Cys57Ser) NC_000016.10:23637890:C:G p.(Cys57Ser) NC_000016.10:23637890:C:G Identity +NM_000335.5:c.5965G>C NP_000326.2:p.Val1989Leu NC_000003.12:38550403:C:G p.(Val1989Leu) NC_000003.12:38550403:C:G p.(Val1989Leu) NC_000003.12:38550403:C:G Identity +NM_000535.7:c.1265A>G NP_000526.2:p.Glu422Gly NC_000007.14:5987499:T:C p.(Glu422Gly) NC_000007.14:5987499:T:C p.(Glu422Gly) NC_000007.14:5987499:T:C Identity +LRG_1401t2:c.4974G>C LRG_1401p2:p.Gln1658His NC_000016.10:15720150:C:G ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found +NM_001407240.1:c.1393A>G NP_001394169.1:p.Ile465Val NC_000001.11:55058124:A:G p.(Ile465Val) NC_000001.11:55058124:A:G p.(Ile465Val) NC_000001.11:55058124:A:G Identity +NM_000535.7:c.451del NP_000526.2:p.Arg151fs NC_000007.14:6002538:GGGGG:GGGG p.(Arg151AlafsTer50) NC_000007.14:6002538:GGGGG:GGGG p.(Arg151AlafsTer50) NC_000007.14:6002538:G: Analogous +NM_000179.3:c.2620A>G NP_000170.1:p.Ile874Val NC_000002.12:47800602:A:G p.(Ile874Val) NC_000002.12:47800602:A:G p.(Ile874Val) NC_000002.12:47800602:A:G Identity +NM_000038.6:c.4556A>T NP_000029.2:p.Asp1519Val NC_000005.10:112840149:A:T p.(Asp1519Val) NC_000005.10:112840149:A:T p.(Asp1519Val) NC_000005.10:112840149:A:T Identity +NM_001048171.2:c.1507_1509del NP_001041636.2:p.Asn503del NC_000001.11:45329362:ATTAT:AT p.(Asn503del) NC_000001.11:45329362:ATTAT:AT p.(Asn503del) NC_000001.11:45329362:ATT: Identity +NM_058216.3:c.1045A>G NP_478123.1:p.Thr349Ala NC_000017.11:58734135:A:G p.(Thr349Ala) NC_000017.11:58734135:A:G p.(Thr349Ala) NC_000017.11:58734135:A:G Identity +NM_000059.4:c.9512T>C NP_000050.3:p.Ile3171Thr NC_000013.11:32396907:T:C p.(Ile3171Thr) NC_000013.11:32396907:T:C p.(Ile3171Thr) NC_000013.11:32396907:T:C Identity +NM_000527.5:c.2180T>A NP_000518.1:p.Val727Asp NC_000019.10:11123212:T:A p.(Val727Asp) NC_000019.10:11123212:T:A p.(Val727Asp) NC_000019.10:11123212:T:A Identity +LRG_402t1:c.3875C>G LRG_402p1:p.Ser1292Cys NC_000001.11:237590706:C:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_004949.5:c.1157C>G NP_004940.1:p.Thr386Ser NC_000018.10:31082343:G:C p.(Thr386Ser) NC_000018.10:31082343:G:C p.(Thr386Ser) NC_000018.10:31082343:G:C Identity +NM_000051.4:c.2744C>G NP_000042.3:p.Thr915Ser NC_000011.10:108268514:C:G p.(Thr915Ser) NC_000011.10:108268514:C:G p.(Thr915Ser) NC_000011.10:108268514:C:G Identity +NM_001293196.2:c.685T>A NP_001280125.1:p.Trp229Arg NC_000001.11:45331801:A:T p.(Trp229Arg) NC_000001.11:45331801:A:T p.(Trp229Arg) NC_000001.11:45331801:A:T Identity +NM_000455.5:c.979G>A NP_000446.1:p.Asp327Asn NC_000019.10:1223042:G:A p.(Asp327Asn) NC_000019.10:1223042:G:A p.(Asp327Asn) NC_000019.10:1223042:G:A Identity +NM_001024688.3:c.583A>G NP_001019859.1:p.Asn195Asp NC_000008.11:89970430:T:C p.(Asn195Asp) NC_000008.11:89970430:T:C p.(Asn195Asp) NC_000008.11:89970430:T:C Identity +NM_000179.3:c.1475T>C NP_000170.1:p.Met492Thr NC_000002.12:47799457:T:C p.(Met492Thr) NC_000002.12:47799457:T:C p.(Met492Thr) NC_000002.12:47799457:T:C Identity +NM_000059.4:c.788G>A NP_000050.3:p.Ser263Asn NC_000013.11:32331024:G:A p.(Ser263Asn) NC_000013.11:32331024:G:A p.(Ser263Asn) NC_000013.11:32331024:G:A Identity +NM_004656.4:c.829C>A NP_004647.1:p.Gln277Lys NC_000003.12:52405866:G:T p.(Gln277Lys) NC_000003.12:52405866:G:T p.(Gln277Lys) NC_000003.12:52405866:G:T Identity +NM_002878.4:c.200A>G NP_002869.3:p.Asn67Ser NC_000017.11:35118563:T:C p.(Asn67Ser) NC_000017.11:35118563:T:C p.(Asn67Ser) NC_000017.11:35118563:T:C Identity +NM_058216.3:c.978G>C NP_478123.1:p.Leu326Phe NC_000017.11:58732495:G:C p.(Leu326Phe) NC_000017.11:58732495:G:C p.(Leu326Phe) NC_000017.11:58732495:G:C Identity +LRG_1390t1:c.2T>G LRG_1390p1:p.Met1Arg NC_000001.11:162719064:T:G ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1390t1, alt_ac=LRG_1390t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1390t1 not found +NM_000242.3:c.628G>T NP_000233.1:p.Glu210Ter NC_000010.11:52768255:C:A p.(Glu210Ter) NC_000010.11:52768255:C:A p.(Glu210Ter) NC_000010.11:52768255:C:A Identity +LRG_1133t1:c.625G>C LRG_1133p1:p.Asp209His NC_000003.12:39392020:G:C ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found ERR:AlignmentMapper(tx_ac=LRG_1133t1, alt_ac=LRG_1133t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1133t1, alt_ac=LRG_1133t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1133t1 not found +NM_001037633.2:c.947dup NP_001032722.1:p.Arg317fs NC_000005.10:138951252:A:AA p.(Arg317GlufsTer35) NC_000005.10:138951252:A:AA p.(Arg317GlufsTer35) ERR:SPDI Analogous +NM_016941.4:c.395del NP_058637.1:p.Gly132fs NC_000019.10:39500656:GG:G p.(Gly132GlufsTer109) NC_000019.10:39500656:GG:G p.(Gly132GlufsTer109) NC_000019.10:39500657:G: Analogous +NM_001172745.3:c.1201C>T NP_001166216.1:p.Arg401Ter NC_000020.11:18530770:C:T p.(Arg401Ter) NC_000020.11:18530770:C:T p.(Arg401Ter) NC_000020.11:18530770:C:T Identity +NM_001126054.3:c.2051dup NP_001119526.1:p.Tyr685Valfs NC_000023.11:41542725:T:TT p.(Tyr685ValfsTer4) NC_000023.11:41542725:T:TT p.(Tyr685ValfsTer4) ERR:SPDI Analogous +NM_012310.5:c.794G>T NP_036442.3:p.Arg265Leu NC_000023.11:70329419:G:T p.(Arg265Leu) NC_000023.11:70329419:G:T p.(Arg265Leu) NC_000023.11:70329419:G:T Identity +NM_000143.4:c.947del NP_000134.2:p.Ala316fs NC_000001.11:241504202:G: p.(Ala316ValfsTer13) NC_000001.11:241504202:G: p.(Ala316ValfsTer13) NC_000001.11:241504202:G: Analogous +NM_016239.4:c.5492del NP_057323.3:p.Gly1831fs NC_000017.11:18141101:GGG:GG p.(Gly1831AspfsTer18) NC_000017.11:18141101:GGG:GG p.(Gly1831AspfsTer18) NC_000017.11:18141103:G: Analogous +NM_032043.3:c.944G>T NP_114432.2:p.Gly315Val NC_000017.11:61801448:C:A p.(Gly315Val) NC_000017.11:61801448:C:A p.(Gly315Val) NC_000017.11:61801448:C:A Identity +NM_000038.6:c.8317C>A NP_000029.2:p.Pro2773Thr NC_000005.10:112843910:C:A p.(Pro2773Thr) NC_000005.10:112843910:C:A p.(Pro2773Thr) NC_000005.10:112843910:C:A Identity +NM_001134830.2:c.96dup NP_001128302.1:p.Leu33fs NC_000006.12:135490661:TTTTTT:TTTTTTT p.(Leu33ThrfsTer9) NC_000006.12:135490661:TTTTTT:TTTTTTT p.(Leu33ThrfsTer9) ERR:SPDI Analogous +NM_138694.4:c.12142C>T NP_619639.3:p.Gln4048Ter NC_000006.12:51619163:G:A p.(Gln4048Ter) NC_000006.12:51619163:G:A p.(Gln4048Ter) NC_000006.12:51619163:G:A Identity +NM_014239.4:c.570del NP_055054.1:p.Ile190fs NC_000014.9:75004871:TT:T p.(Ile190MetfsTer2) NC_000014.9:75004871:TT:T p.(Ile190MetfsTer2) NC_000014.9:75004872:T: Analogous +NM_001201484.2:c.589_590del NP_001188413.1:p.Pro197fs NC_000009.12:35094280:GGG:G p.(Pro197IlefsTer26) NC_000009.12:35094280:GGG:G p.(Pro197IlefsTer26) NC_000009.12:35094280:GG: Analogous +NM_001031681.3:c.423del NP_001026851.2:p.Phe142fs NC_000017.11:3655312:CC:C p.(Phe142SerfsTer5) NC_000017.11:3655312:CC:C p.(Phe142SerfsTer5) NC_000017.11:3655313:C: Analogous +NM_032043.3:c.929G>A NP_114432.2:p.Cys310Tyr NC_000017.11:61801463:C:T p.(Cys310Tyr) NC_000017.11:61801463:C:T p.(Cys310Tyr) NC_000017.11:61801463:C:T Identity +NM_000138.5:c.4057G>T NP_000129.3:p.Gly1353Trp NC_000015.10:48474557:C:A p.(Gly1353Trp) NC_000015.10:48474557:C:A p.(Gly1353Trp) NC_000015.10:48474557:C:A Identity +NM_000152.5:c.1952del NP_000143.2:p.Gly651fs NC_000017.11:80112936:GGG:GG p.(Gly651AlafsTer45) NC_000017.11:80112936:GGG:GG p.(Gly651AlafsTer45) NC_000017.11:80112938:G: Analogous +NM_001142800.2:c.1871C>T NP_001136272.1:p.Ser624Leu NC_000006.12:65296014:G:A p.(Ser624Leu) NC_000006.12:65296014:G:A p.(Ser624Leu) NC_000006.12:65296014:G:A Identity +NM_000072.3:c.1156C>T NP_000063.2:p.Arg386Trp NC_000007.14:80672799:C:T p.(Arg386Trp) NC_000007.14:80672799:C:T p.(Arg386Trp) NC_000007.14:80672799:C:T Identity +NM_000057.4:c.1090A>T NP_000048.1:p.Arg364Ter NC_000015.10:90760148:A:T p.(Arg364Ter) NC_000015.10:90760148:A:T p.(Arg364Ter) NC_000015.10:90760148:A:T Identity +NM_000059.4:c.1378A>C NP_000050.3:p.Asn460His NC_000013.11:32332855:A:C p.(Asn460His) NC_000013.11:32332855:A:C p.(Asn460His) NC_000013.11:32332855:A:C Identity +NM_000492.4:c.2402A>G NP_000483.3:p.Asn801Ser NC_000007.14:117592568:A:G p.(Asn801Ser) NC_000007.14:117592568:A:G p.(Asn801Ser) NC_000007.14:117592568:A:G Identity +NM_000074.3:c.632C>A NP_000065.1:p.Thr211Asn NC_000023.11:136659260:C:A p.(Thr211Asn) NC_000023.11:136659260:C:A p.(Thr211Asn) NC_000023.11:136659260:C:A Identity +NM_000518.5:c.436T>A NP_000509.1:p.Tyr146Asn NC_000011.10:5225605:A:T p.(Tyr146Asn) NC_000011.10:5225605:A:T p.(Tyr146Asn) NC_000011.10:5225605:A:T Identity +NM_000038.6:c.4551G>T NP_000029.2:p.Gln1517His NC_000005.10:112840144:G:T p.(Gln1517His) NC_000005.10:112840144:G:T p.(Gln1517His) NC_000005.10:112840144:G:T Identity +NM_001048171.2:c.490A>G NP_001041636.2:p.Lys164Glu NC_000001.11:45332764:T:C p.(Lys164Glu) NC_000001.11:45332764:T:C p.(Lys164Glu) NC_000001.11:45332764:T:C Identity +NM_000152.5:c.1952G>T NP_000143.2:p.Gly651Val NC_000017.11:80112938:G:T p.(Gly651Val) NC_000017.11:80112938:G:T p.(Gly651Val) NC_000017.11:80112938:G:T Identity +NM_138694.4:c.1774C>T NP_619639.3:p.Arg592Ter NC_000006.12:52055648:G:A p.(Arg592Ter) NC_000006.12:52055648:G:A p.(Arg592Ter) NC_000006.12:52055648:G:A Identity +LRG_518t2:c.2198G>A LRG_518p2:p.Gly733Asp NC_000010.11:43116644:G:A ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_518t2 not found +NM_024675.4:c.761C>G NP_078951.2:p.Ser254Ter NC_000016.10:23635784:G:C p.(Ser254Ter) NC_000016.10:23635784:G:C p.(Ser254Ter) NC_000016.10:23635784:G:C Identity +NM_001407571.1:c.1750_1751delinsAT NP_001394500.1:p.Tyr584Ile NC_000017.11:43093566:TA:AT p.(Tyr584Ile) NC_000017.11:43093566:TA:AT p.(Tyr584Ile) NC_000017.11:43093566:TA:AT Identity +NM_000368.5:c.3329C>G NP_000359.1:p.Thr1110Ser NC_000009.12:132896400:G:C p.(Thr1110Ser) NC_000009.12:132896400:G:C p.(Thr1110Ser) NC_000009.12:132896400:G:C Identity +NM_001348250.2:c.738C>G NP_001335179.1:p.Tyr246Ter NC_000003.12:11025471:C:G p.(Tyr246Ter) NC_000003.12:11025471:C:G p.(Tyr246Ter) NC_000003.12:11025471:C:G Identity +NM_003172.4:c.17C>A NP_003163.1:p.Ala6Glu NC_000009.12:133356436:G:T p.(Ala6Glu) NC_000009.12:133356436:G:T p.(Ala6Glu) NC_000009.12:133356436:G:T Identity +NM_005149.3:c.210G>T NP_005140.1:p.Met70Ile NC_000001.11:168291165:G:T p.(Met70Ile) NC_000001.11:168291165:G:T p.(Met70Ile) NC_000001.11:168291165:G:T Identity +NM_001040142.2:c.4865C>G NP_001035232.1:p.Pro1622Arg NC_000002.12:165388670:C:G p.(Pro1622Arg) NC_000002.12:165388670:C:G p.(Pro1622Arg) NC_000002.12:165388670:C:G Identity +NM_033440.3:c.361G>A NP_254275.1:p.Asp121Asn NC_000001.11:15463389:G:A p.(Asp121Asn) NC_000001.11:15463389:G:A p.(Asp121Asn) NC_000001.11:15463389:G:A Identity +NM_004975.4:c.1130C>A NP_004966.1:p.Thr377Asn NC_000020.11:49374429:G:T p.(Thr377Asn) NC_000020.11:49374429:G:T p.(Thr377Asn) NC_000020.11:49374429:G:T Identity +NM_001048171.2:c.1055C>G NP_001041636.2:p.Pro352Arg NC_000001.11:45331707:G:C p.(Pro352Arg) NC_000001.11:45331707:G:C p.(Pro352Arg) NC_000001.11:45331707:G:C Identity +NM_000142.5:c.1519G>A NP_000133.1:p.Val507Met NC_000004.12:1805460:G:A p.(Val507Met) NC_000004.12:1805460:G:A p.(Val507Met) NC_000004.12:1805460:G:A Identity +NM_000261.2:c.158T>C NP_000252.1:p.Val53Ala NC_000001.11:171652453:A:G p.(Val53Ala) NC_000001.11:171652453:A:G p.(Val53Ala) NC_000001.11:171652453:A:G Identity +NM_001077188.2:c.916G>C NP_001070656.1:p.Gly306Arg NC_000023.11:132956838:C:G p.(Gly306Arg) NC_000023.11:132956838:C:G p.(Gly306Arg) NC_000023.11:132956838:C:G Identity +NM_001165960.1:c.2461C>T NP_001159432.1:p.Arg821Trp NC_000017.11:8096697:G:A p.(Arg821Trp) NC_000017.11:8096697:G:A p.(Arg821Trp) NC_000017.11:8096697:G:A Identity +NM_001163940.2:c.2365C>T NP_001157412.1:p.Gln789Ter NC_000014.9:50905468:G:A p.(Gln789Ter) NC_000014.9:50905468:G:A p.(Gln789Ter) NC_000014.9:50905468:G:A Identity +NM_001004334.4:c.4810G>T NP_001004334.3:p.Glu1604Ter NC_000017.11:38328758:C:A p.(Glu1604Ter) NC_000017.11:38328758:C:A p.(Glu1604Ter) NC_000017.11:38328758:C:A Identity +NM_000297.4:c.1444T>G NP_000288.1:p.Phe482Val NC_000004.12:88046765:T:G p.(Phe482Val) NC_000004.12:88046765:T:G p.(Phe482Val) NC_000004.12:88046765:T:G Identity +NM_001145717.1:c.56C>G NP_001139189.2:p.Ser19Trp NC_000006.12:36270514:C:G p.(Ser19Trp) NC_000006.12:36270514:C:G p.(Ser19Trp) NC_000006.12:36270514:C:G Identity +NM_001099287.2:c.520_526del NP_001092757.2:p.Ile174fs NC_000005.10:157471748:TGATACATG:TG p.(Ile174LeufsTer17) NC_000005.10:157471748:TGATACATG:TG p.(Ile174LeufsTer17) NC_000005.10:157471750:ATACATG: Analogous +NM_003900.5:c.213C>G NP_003891.1:p.Asp71Glu NC_000005.10:179822964:C:G p.(Asp71Glu) NC_000005.10:179822964:C:G p.(Asp71Glu) NC_000005.10:179822964:C:G Identity +NM_000059.4:c.6890T>C NP_000050.3:p.Ile2297Thr NC_000013.11:32344605:T:C p.(Ile2297Thr) NC_000013.11:32344605:T:C p.(Ile2297Thr) NC_000013.11:32344605:T:C Identity +NM_000492.4:c.3803A>G NP_000483.3:p.Gln1268Arg NC_000007.14:117642522:A:G p.(Gln1268Arg) NC_000007.14:117642522:A:G p.(Gln1268Arg) NC_000007.14:117642522:A:G Identity +NM_001080522.2:c.565G>A NP_001073991.2:p.Glu189Lys NC_000004.12:15511270:G:A p.(Glu189Lys) NC_000004.12:15511270:G:A p.(Glu189Lys) NC_000004.12:15511270:G:A Identity +NM_005921.2:c.2627_2642del NP_005912.1:p.Thr876fs NC_000005.10:56881823:ACACTTTGGATGGTCAACA:ACA p.(Thr876ArgfsTer28) NC_000005.10:56881823:ACACTTTGGATGGTCAACA:ACA p.(Thr876ArgfsTer28) NC_000005.10:56881826:CTTTGGATGGTCAACA: Analogous +NM_000157.4:c.497A>T NP_000148.2:p.Asp166Val NC_000001.11:155238607:T:A p.(Asp166Val) NC_000001.11:155238607:T:A p.(Asp166Val) NC_000001.11:155238607:T:A Identity +NM_000059.4:c.6641C>T NP_000050.3:p.Thr2214Ile NC_000013.11:32340995:C:T p.(Thr2214Ile) NC_000013.11:32340995:C:T p.(Thr2214Ile) NC_000013.11:32340995:C:T Identity +NM_001305878.2:c.893C>T NP_001292807.1:p.Thr298Ile NC_000008.11:41980859:G:A p.(Thr298Ile) NC_000008.11:41980859:G:A p.(Thr298Ile) NC_000008.11:41980859:G:A Identity +NM_001378183.1:c.16G>T NP_001365112.1:p.Val6Leu NC_000018.10:11148572:C:A p.(Val6Leu) NC_000018.10:11148572:C:A p.(Val6Leu) NC_000018.10:11148572:C:A Identity +NM_001320665.2:c.75dup NP_001307594.1:p.Ala26fs NC_000015.10:72695221:AAAAAA:AAAAAAA p.(Ala26SerfsTer24) NC_000015.10:72695221:AAAAAA:AAAAAAA p.(Ala26SerfsTer24) ERR:SPDI Analogous +NM_001082.5:c.1250G>T NP_001073.3:p.Gly417Val NC_000019.10:15879667:C:A p.(Gly417Val) NC_000019.10:15879667:C:A p.(Gly417Val) NC_000019.10:15879667:C:A Identity +NM_001346754.2:c.608T>G NP_001333683.1:p.Leu203Trp NC_000017.11:36537708:T:G p.(Leu203Trp) NC_000017.11:36537708:T:G p.(Leu203Trp) NC_000017.11:36537708:T:G Identity +NM_001278464.2:c.253C>G NP_001265393.1:p.Pro85Ala NC_000012.12:32705826:C:G p.(Pro85Ala) NC_000012.12:32705826:C:G p.(Pro85Ala) NC_000012.12:32705826:C:G Identity +NM_001134363.3:c.3478G>A NP_001127835.2:p.Gly1160Ser NC_000010.11:110831086:G:A p.(Gly1160Ser) NC_000010.11:110831086:G:A p.(Gly1160Ser) NC_000010.11:110831086:G:A Identity +NM_005584.5:c.841del NP_005575.1:p.Glu281fs NC_000013.11:35475297:C: p.(Glu281SerfsTer20) NC_000013.11:35475297:C: p.(Glu281SerfsTer20) NC_000013.11:35475297:C: Analogous +NM_004369.4:c.5950C>T NP_004360.2:p.Arg1984Ter NC_000002.12:237363365:G:A p.(Arg1984Ter) NC_000002.12:237363365:G:A p.(Arg1984Ter) NC_000002.12:237363365:G:A Identity +LRG_402t1:c.7546C>T LRG_402p1:p.Leu2516Phe NC_000001.11:237649909:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001362836.2:c.1009A>C NP_001349765.1:p.Lys337Gln NC_000008.11:105801249:A:C p.(Lys337Gln) NC_000008.11:105801249:A:C p.(Lys337Gln) NC_000008.11:105801249:A:C Identity +NM_001136540.2:c.976A>G NP_001130012.1:p.Ile326Val NC_000022.11:36265811:A:G p.(Ile326Val) NC_000022.11:36265811:A:G p.(Ile326Val) NC_000022.11:36265811:A:G Identity +NM_023067.4:c.55G>T NP_075555.1:p.Glu19Ter NC_000003.12:138946667:C:A p.(Glu19Ter) NC_000003.12:138946667:C:A p.(Glu19Ter) NC_000003.12:138946667:C:A Identity +NM_003394.4:c.949T>A NP_003385.2:p.Phe317Ile NC_000012.12:48966315:A:T p.(Phe317Ile) NC_000012.12:48966315:A:T p.(Phe317Ile) NC_000012.12:48966315:A:T Identity +NM_000546.6:c.526_528delinsCGG NP_000537.3:p.Cys176Arg NC_000017.11:7675083:GCA:CCG p.(Cys176Arg) NC_000017.11:7675083:GCA:CCG p.(Cys176Arg) NC_000017.11:7675083:GCA:CCG Identity +NM_003482.4:c.11047C>T NP_003473.3:p.Gln3683Ter NC_000012.12:49033657:G:A p.(Gln3683Ter) NC_000012.12:49033657:G:A p.(Gln3683Ter) NC_000012.12:49033657:G:A Identity +NM_001270.4:c.470C>G NP_001261.2:p.Pro157Arg NC_000005.10:98901302:G:C p.(Pro157Arg) NC_000005.10:98901302:G:C p.(Pro157Arg) NC_000005.10:98901302:G:C Identity +NM_000192.3:c.500del NP_000183.2:p.Pro167fs NC_000012.12:114398582:GGG:GG p.(Pro167HisfsTer7) NC_000012.12:114398582:GGG:GG p.(Pro167HisfsTer7) NC_000012.12:114398582:G: Analogous +NM_000091.5:c.1594G>T NP_000082.2:p.Gly532Cys NC_000002.12:227270787:G:T p.(Gly532Cys) NC_000002.12:227270787:G:T p.(Gly532Cys) NC_000002.12:227270787:G:T Identity +NM_001933.5:c.1121G>A NP_001924.2:p.Gly374Glu NC_000014.9:74901126:G:A p.(Gly374Glu) NC_000014.9:74901126:G:A p.(Gly374Glu) NC_000014.9:74901126:G:A Identity +NM_033118.4:c.577G>A NP_149109.1:p.Ala193Thr NC_000020.11:31821541:G:A p.(Ala193Thr) NC_000020.11:31821541:G:A p.(Ala193Thr) NC_000020.11:31821541:G:A Identity +NM_001130916.3:c.374C>T NP_001124388.1:p.Ala125Val NC_000009.12:99137888:C:T p.(Ala125Val) NC_000009.12:99137888:C:T p.(Ala125Val) NC_000009.12:99137888:C:T Identity +NM_001318876.2:c.325C>T NP_001305805.1:p.Arg109Cys NC_000006.12:43519780:C:T p.(Arg109Cys) NC_000006.12:43519780:C:T p.(Arg109Cys) NC_000006.12:43519780:C:T Identity +NM_001142301.1:c.1355G>A NP_001135773.1:p.Gly452Glu NC_000008.11:93793219:G:A p.(Gly452Glu) NC_000008.11:93793219:G:A p.(Gly452Glu) NC_000008.11:93793219:G:A Identity +NM_000296.4:c.12345del NP_000287.4:p.Glu4115fs NC_000016.10:2090380:C: p.(Glu4115AspfsTer82) NC_000016.10:2090380:C: p.(Glu4115AspfsTer82) NC_000016.10:2090380:C: Analogous +NM_000458.4:c.484del NP_000449.1:p.Thr162fs NC_000017.11:37739499:T: p.(Thr162ProfsTer32) NC_000017.11:37739499:T: p.(Thr162ProfsTer32) NC_000017.11:37739499:T: Analogous +NM_001297575.2:c.725A>T NP_001284504.1:p.Glu242Val NC_000001.11:179551395:T:A p.(Glu242Val) NC_000001.11:179551395:T:A p.(Glu242Val) NC_000001.11:179551395:T:A Identity +NM_003482.4:c.9964C>T NP_003473.3:p.Gln3322Ter NC_000012.12:49037391:G:A p.(Gln3322Ter) NC_000012.12:49037391:G:A p.(Gln3322Ter) NC_000012.12:49037391:G:A Identity +NM_000458.4:c.1406_1413dup NP_000449.1:p.Val472fs NC_000017.11:37701103:GGGCTGCAGGGCTGC:GGGCTGCAGGGCTGCAGGGCTGC p.(Val472CysfsTer36) NC_000017.11:37701103:GGGCTGCAGGGCTGC:GGGCTGCAGGGCTGCAGGGCTGC p.(Val472CysfsTer36) ERR:SPDI Analogous +NM_000458.4:c.972_973del NP_000449.1:p.His324fs NC_000017.11:37731666:TGTG:TG p.(His324GlnfsTer35) NC_000017.11:37731666:TGTG:TG p.(His324GlnfsTer35) NC_000017.11:37731666:TG: Analogous +NM_001711.6:c.59_60insAA NP_001702.1:p.Gln21fs NC_000023.11:153504689:A:AAA p.(Gln21SerfsTer16) NC_000023.11:153504689:A:AA p.(Gln21SerfsTer16) NC_000023.11:153504690:AG:AA Analogous +NM_000458.4:c.353del NP_000449.1:p.Pro118fs NC_000017.11:37739630:GGG:GG p.(Pro118LeufsTer7) NC_000017.11:37739630:GGG:GG p.(Pro118LeufsTer7) NC_000017.11:37739630:G: Analogous +NM_006269.2:c.4576G>T NP_006260.1:p.Glu1526Ter NC_000008.11:54628457:G:T p.(Glu1526Ter) NC_000008.11:54628457:G:T p.(Glu1526Ter) NC_000008.11:54628457:G:T Identity +NM_206933.4:c.8254G>A NP_996816.3:p.Gly2752Arg NC_000001.11:215879067:C:T p.(Gly2752Arg) NC_000001.11:215879067:C:T p.(Gly2752Arg) NC_000001.11:215879067:C:T Identity +NM_000296.4:c.4988_4990del NP_000287.4:p.Ser1663del NC_000016.10:2110176:AGGAG:AG p.(Ser1663del) NC_000016.10:2110176:AGGAG:AG p.(Ser1663del) NC_000016.10:2110176:AGG: Identity +NM_001849.4:c.2362C>A NP_001840.3:p.Leu788Met NC_000021.9:46126176:C:A p.(Leu788Met) NC_000021.9:46126176:C:A p.(Leu788Met) NC_000021.9:46126176:C:A Identity +NM_001365684.2:c.7103C>T NP_001352613.2:p.Ala2368Val NC_000005.10:177295343:C:T p.(Ala2368Val) NC_000005.10:177295343:C:T p.(Ala2368Val) NC_000005.10:177295343:C:T Identity +NM_001362930.2:c.117G>C NP_001349859.1:p.Lys39Asn NC_000008.11:74350577:G:C p.(Lys39Asn) NC_000008.11:74350577:G:C p.(Lys39Asn) NC_000008.11:74350577:G:C Identity +LRG_245t2:c.131G>T LRG_245p2:p.Trp44Leu NC_000023.11:71223837:G:T ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_000166.6:c.842C>A NP_000157.1:p.Ser281Ter NC_000023.11:71224548:C:A p.(Ser281Ter) NC_000023.11:71224548:C:A p.(Ser281Ter) NC_000023.11:71224548:C:A Identity +NM_000297.4:c.181C>T NP_000288.1:p.Gln61Ter NC_000004.12:88007913:C:T p.(Gln61Ter) NC_000004.12:88007913:C:T p.(Gln61Ter) NC_000004.12:88007913:C:T Identity +NM_023067.4:c.173C>G NP_075555.1:p.Ser58Trp NC_000003.12:138946549:G:C p.(Ser58Trp) NC_000003.12:138946549:G:C p.(Ser58Trp) NC_000003.12:138946549:G:C Identity +NM_014254.3:c.390G>A NP_055069.1:p.Trp130Ter NC_000012.12:63785033:G:A p.(Trp130Ter) NC_000012.12:63785033:G:A p.(Trp130Ter) NC_000012.12:63785033:G:A Identity +NM_001286130.2:c.958G>C NP_001273059.1:p.Gly320Arg NC_000016.10:57950438:C:G p.(Gly320Arg) NC_000016.10:57950438:C:G p.(Gly320Arg) NC_000016.10:57950438:C:G Identity +NM_005677.4:c.279C>A NP_005668.2:p.Cys93Ter NC_000003.12:15488247:G:T p.(Cys93Ter) NC_000003.12:15488247:G:T p.(Cys93Ter) NC_000003.12:15488247:G:T Identity +NM_025099.6:c.104A>G NP_079375.3:p.Asn35Ser NC_000017.11:8243077:T:C p.(Asn35Ser) NC_000017.11:8243077:T:C p.(Asn35Ser) NC_000017.11:8243077:T:C Identity +NM_000304.4:c.336T>G NP_000295.1:p.Ser112Arg NC_000017.11:15231063:A:C p.(Ser112Arg) NC_000017.11:15231063:A:C p.(Ser112Arg) NC_000017.11:15231063:A:C Identity +LRG_372t1:c.694C>A LRG_372p1:p.Arg232Ser NC_000012.12:109803008:G:T ERR:Data provider error: ValueError: Transcript LRG_372t1 not found ERR:Data provider error: ValueError: Transcript LRG_372t1 not found ERR:AlignmentMapper(tx_ac=LRG_372t1, alt_ac=LRG_372t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_372t1, alt_ac=LRG_372t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_372t1 not found +NM_006767.4:c.2063G>A NP_006758.2:p.Arg688His NC_000022.11:20995865:G:A p.(Arg688His) NC_000022.11:20995865:G:A p.(Arg688His) NC_000022.11:20995865:G:A Identity +NM_139058.3:c.84C>A NP_620689.1:p.Cys28Ter NC_000023.11:25015653:G:T p.(Cys28Ter) NC_000023.11:25015653:G:T p.(Cys28Ter) NC_000023.11:25015653:G:T Identity +NM_001134830.2:c.2267G>T NP_001128302.1:p.Gly756Val NC_000006.12:135431313:C:A p.(Gly756Val) NC_000006.12:135431313:C:A p.(Gly756Val) NC_000006.12:135431313:C:A Identity +NM_000297.4:c.717C>A NP_000288.1:p.Tyr239Ter NC_000004.12:88036226:C:A p.(Tyr239Ter) NC_000004.12:88036226:C:A p.(Tyr239Ter) NC_000004.12:88036226:C:A Identity +NM_000257.4:c.1884delinsAC NP_000248.2:p.Asp628fs NC_000014.9:23427588:A:GT p.(Asp628GlufsTer5) NC_000014.9:23427588:A:GT p.(Asp628GlufsTer5) NC_000014.9:23427588:A:GT Analogous +LRG_344t1:c.189G>T LRG_344p1:p.Glu63Asp NC_000012.12:25227334:C:A ERR:Data provider error: ValueError: Transcript LRG_344t1 not found ERR:Data provider error: ValueError: Transcript LRG_344t1 not found ERR:AlignmentMapper(tx_ac=LRG_344t1, alt_ac=LRG_344t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_344t1, alt_ac=LRG_344t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_344t1 not found +NM_000043.6:c.403dup NP_000034.1:p.Cys135fs NC_000010.11:89008950:TTTTTTT:TTTTTTTT p.(Cys135LeufsTer2) NC_000010.11:89008950:TTTTTTT:TTTTTTTT p.(Cys135LeufsTer2) ERR:SPDI Analogous +NM_000257.4:c.4285A>T NP_000248.2:p.Met1429Leu NC_000014.9:23417570:T:A p.(Met1429Leu) NC_000014.9:23417570:T:A p.(Met1429Leu) NC_000014.9:23417570:T:A Identity +LRG_245t2:c.610C>T LRG_245p2:p.Leu204Phe NC_000023.11:71224316:C:T ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_021072.4:c.728T>G NP_066550.2:p.Met243Arg NC_000005.10:45645305:A:C p.(Met243Arg) NC_000005.10:45645305:A:C p.(Met243Arg) NC_000005.10:45645305:A:C Identity +NM_005321.3:c.408dup NP_005312.1:p.Lys137fs NC_000006.12:26156797:G:GG p.(Lys137GlufsTer59) NC_000006.12:26156797:G:GG p.(Lys137GlufsTer59) ERR:SPDI Analogous +NM_005321.3:c.414dup NP_005312.1:p.Lys139fs NC_000006.12:26156801:CCC:CCCC p.(Lys139GlnfsTer57) NC_000006.12:26156801:CCC:CCCC p.(Lys139GlnfsTer57) ERR:SPDI Analogous +NM_001136257.2:c.191T>G NP_001129729.1:p.Met64Arg NC_000004.12:107895743:T:G p.(Met64Arg) NC_000004.12:107895743:T:G p.(Met64Arg) NC_000004.12:107895743:T:G Identity +LRG_245t2:c.533A>T LRG_245p2:p.Asp178Val NC_000023.11:71224239:A:T ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_000166.6:c.248T>G NP_000157.1:p.Leu83Arg NC_000023.11:71223954:T:G p.(Leu83Arg) NC_000023.11:71223954:T:G p.(Leu83Arg) NC_000023.11:71223954:T:G Identity +LRG_245t2:c.515C>G LRG_245p2:p.Pro172Arg NC_000023.11:71224221:C:G ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +LRG_245t2:c.246C>G LRG_245p2:p.Ile82Met NC_000023.11:71223952:C:G ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_002180.3:c.983_984del NP_002171.2:p.Lys328fs NC_000011.10:68917803:AAAA:AA p.(Lys328ArgfsTer47) NC_000011.10:68917803:AAAA:AA p.(Lys328ArgfsTer47) NC_000011.10:68917805:AA: Analogous +NM_001127660.2:c.1199G>C NP_001121132.1:p.Arg400Pro NC_000001.11:12004029:G:C p.(Arg400Pro) NC_000001.11:12004029:G:C p.(Arg400Pro) NC_000001.11:12004029:G:C Identity +NM_001042494.2:c.1439G>A NP_001035959.1:p.Gly480Asp NC_000015.10:34250330:C:T p.(Gly480Asp) NC_000015.10:34250330:C:T p.(Gly480Asp) NC_000015.10:34250330:C:T Identity +NM_001379277.1:c.1084G>C NP_001366206.1:p.Glu362Gln NC_000007.14:92070137:G:C p.(Glu362Gln) NC_000007.14:92070137:G:C p.(Glu362Gln) NC_000007.14:92070137:G:C Identity +NM_001377486.1:c.332C>T NP_001364415.1:p.Ala111Val NC_000016.10:81357928:C:T p.(Ala111Val) NC_000016.10:81357928:C:T p.(Ala111Val) NC_000016.10:81357928:C:T Identity +NM_001079668.3:c.698C>T NP_001073136.1:p.Thr233Met NC_000014.9:36517785:G:A p.(Thr233Met) NC_000014.9:36517785:G:A p.(Thr233Met) NC_000014.9:36517785:G:A Identity +NM_000458.4:c.840del NP_000449.1:p.Ser281fs NC_000017.11:37731799:GGGGG:GGGG p.(Ser281ProfsTer46) NC_000017.11:37731799:GGGGG:GGGG p.(Ser281ProfsTer46) NC_000017.11:37731799:G: Analogous +NM_000458.4:c.534del NP_000449.1:p.Ile179fs NC_000017.11:37739449:C: p.(Ile179SerfsTer15) NC_000017.11:37739449:C: p.(Ile179SerfsTer15) NC_000017.11:37739449:C: Analogous +NM_000304.4:c.440T>G NP_000295.1:p.Leu147Arg NC_000017.11:15230959:A:C p.(Leu147Arg) NC_000017.11:15230959:A:C p.(Leu147Arg) NC_000017.11:15230959:A:C Identity +NM_022041.4:c.583G>T NP_071324.1:p.Val195Phe NC_000016.10:81354704:G:T p.(Val195Phe) NC_000016.10:81354704:G:T p.(Val195Phe) NC_000016.10:81354704:G:T Identity +NM_000282.4:c.524G>A NP_000273.2:p.Gly175Asp NC_000013.11:100209386:G:A p.(Gly175Asp) NC_000013.11:100209386:G:A p.(Gly175Asp) NC_000013.11:100209386:G:A Identity +NM_001142800.2:c.232del NP_001136272.1:p.Cys78fs NC_000006.12:65495178:AAA:AA p.(Cys78AlafsTer7) NC_000006.12:65495178:AAA:AA p.(Cys78AlafsTer7) NC_000006.12:65495178:A: Analogous +NM_022124.6:c.4504C>T NP_071407.4:p.Arg1502Ter NC_000010.11:71740836:C:T p.(Arg1502Ter) NC_000010.11:71740836:C:T p.(Arg1502Ter) NC_000010.11:71740836:C:T Identity +NM_014049.5:c.1344_1348dup NP_054768.2:p.Thr450fs NC_000003.12:128908249:GACTA:GACTAGACTA p.(Thr450ArgfsTer13) NC_000003.12:128908249:GACTA:GACTAGACTA p.(Thr450ArgfsTer13) ERR:SPDI Analogous +NM_001366624.2:c.208T>C NP_001353553.1:p.Cys70Arg NC_000013.11:76995096:T:C p.(Cys70Arg) NC_000013.11:76995096:T:C p.(Cys70Arg) NC_000013.11:76995096:T:C Identity +NM_001164342.2:c.1760T>G NP_001157814.1:p.Phe587Cys NC_000003.12:114350317:A:C p.(Phe587Cys) NC_000003.12:114350317:A:C p.(Phe587Cys) NC_000003.12:114350317:A:C Identity +NM_014845.6:c.2299dup NP_055660.1:p.Glu767fs NC_000006.12:109791491:GGG:GGGG p.(Glu767GlyfsTer17) NC_000006.12:109791491:GGG:GGGG p.(Glu767GlyfsTer17) ERR:SPDI Analogous +NM_000166.6:c.410del NP_000157.1:p.Ile137fs NC_000023.11:71224116:T: p.(Ile137ThrfsTer59) NC_000023.11:71224116:T: p.(Ile137ThrfsTer59) NC_000023.11:71224116:T: Analogous +NM_005477.3:c.2482C>T NP_005468.1:p.Arg828Trp NC_000015.10:73323610:G:A p.(Arg828Trp) NC_000015.10:73323610:G:A p.(Arg828Trp) NC_000015.10:73323610:G:A Identity +NM_022844.3:c.1201A>G NP_074035.1:p.Ile401Val NC_000016.10:15760586:T:C p.(Ile401Val) NC_000016.10:15760586:T:C p.(Ile401Val) NC_000016.10:15760586:T:C Identity +NM_002185.5:c.1003T>C NP_002176.2:p.Ser335Pro NC_000005.10:35876108:T:C p.(Ser335Pro) NC_000005.10:35876108:T:C p.(Ser335Pro) NC_000005.10:35876108:T:C Identity +NM_001127660.2:c.1772_1773del NP_001121132.1:p.Gln591fs NC_000001.11:12006592:AG: p.(Gln591ArgfsTer57) NC_000001.11:12006592:AG: p.(Gln591ArgfsTer57) NC_000001.11:12006592:AG: Analogous +NM_000530.8:c.706A>G NP_000521.2:p.Lys236Glu NC_000001.11:161305916:T:C p.(Lys236Glu) NC_000001.11:161305916:T:C p.(Lys236Glu) NC_000001.11:161305916:T:C Identity +NM_001277115.2:c.9640G>T NP_001264044.1:p.Ala3214Ser NC_000007.14:21786665:G:T p.(Ala3214Ser) NC_000007.14:21786665:G:T p.(Ala3214Ser) NC_000007.14:21786665:G:T Identity +NM_001128844.3:c.433A>G NP_001122316.1:p.Met145Val NC_000019.10:10986265:A:G p.(Met145Val) NC_000019.10:10986265:A:G p.(Met145Val) NC_000019.10:10986265:A:G Identity +NM_001164674.2:c.584G>A NP_001158146.1:p.Trp195Ter NC_000003.12:4418075:C:T p.(Trp195Ter) NC_000003.12:4418075:C:T p.(Trp195Ter) NC_000003.12:4418075:C:T Identity +NM_001256850.1:c.80717_80729del NP_001243779.1:p.Pro26906fs NC_000002.12:178560479:GGAACTGTAAATGG:G p.(Pro26906GlnfsTer12) NC_000002.12:178560479:GGAACTGTAAATGG:G p.(Pro26906GlnfsTer12) NC_000002.12:178560479:GGAACTGTAAATG: Analogous +NM_000265.7:c.124C>T NP_000256.4:p.Arg42Trp NC_000007.14:74777317:C:T p.(Arg42Trp) NC_000007.14:74777317:C:T p.(Arg42Trp) NC_000007.14:74777317:C:T Identity +NM_000296.4:c.12058C>T NP_000287.4:p.Arg4020Ter NC_000016.10:2090750:G:A p.(Arg4020Ter) NC_000016.10:2090750:G:A p.(Arg4020Ter) NC_000016.10:2090750:G:A Identity +NM_000366.6:c.202C>A NP_000357.3:p.Gln68Lys NC_000015.10:63044113:C:A p.(Gln68Lys) NC_000015.10:63044113:C:A p.(Gln68Lys) NC_000015.10:63044113:C:A Identity +NM_000089.4:c.290G>A NP_000080.2:p.Gly97Glu NC_000007.14:94404565:G:A p.(Gly97Glu) NC_000007.14:94404565:G:A p.(Gly97Glu) NC_000007.14:94404565:G:A Identity +NM_000263.4:c.230T>G NP_000254.2:p.Val77Gly NC_000017.11:42536501:T:G p.(Val77Gly) NC_000017.11:42536501:T:G p.(Val77Gly) NC_000017.11:42536501:T:G Identity +NM_001111125.3:c.1186G>T NP_001104595.1:p.Glu396Ter NC_000023.11:53254744:C:A p.(Glu396Ter) NC_000023.11:53254744:C:A p.(Glu396Ter) NC_000023.11:53254744:C:A Identity +NM_005732.4:c.3704C>T NP_005723.2:p.Thr1235Ile NC_000005.10:132640756:C:T p.(Thr1235Ile) NC_000005.10:132640756:C:T p.(Thr1235Ile) NC_000005.10:132640756:C:T Identity +NM_001258040.3:c.519T>G NP_001244969.1:p.Asp173Glu NC_000005.10:140677744:A:C p.(Asp173Glu) NC_000005.10:140677744:A:C p.(Asp173Glu) NC_000005.10:140677744:A:C Identity +NM_000211.5:c.786del NP_000202.3:p.Thr263fs NC_000021.9:44900430:GG:G p.(Thr263LeufsTer17) NC_000021.9:44900430:GG:G p.(Thr263LeufsTer17) NC_000021.9:44900430:G: Analogous +NM_000296.4:c.5411del NP_000287.4:p.Gly1804fs NC_000016.10:2109755:CC:C p.(Gly1804AlafsTer32) NC_000016.10:2109755:CC:C p.(Gly1804AlafsTer32) NC_000016.10:2109755:C: Analogous +NM_001077397.1:c.352C>G NP_001070865.1:p.Pro118Ala NC_000001.11:234609142:G:C p.(Pro118Ala) NC_000001.11:234609142:G:C p.(Pro118Ala) NC_000001.11:234609142:G:C Identity +NM_000138.5:c.7050C>G NP_000129.3:p.Ile2350Met NC_000015.10:48427720:G:C p.(Ile2350Met) NC_000015.10:48427720:G:C p.(Ile2350Met) NC_000015.10:48427720:G:C Identity +NM_005198.5:c.138G>T NP_005189.2:p.Glu46Asp NC_000022.11:50582643:C:A p.(Glu46Asp) NC_000022.11:50582643:C:A p.(Glu46Asp) NC_000022.11:50582643:C:A Identity +NM_021167.5:c.539A>T NP_066990.3:p.Glu180Val NC_000007.14:92454604:A:T p.(Glu180Val) NC_000007.14:92454604:A:T p.(Glu180Val) NC_000007.14:92454604:A:T Identity +NM_000802.3:c.465_466delinsTG NP_000793.1:p.Trp156Gly NC_000011.10:72195718:CT:TG p.(Trp156Gly) NC_000011.10:72195718:CT:TG p.(Trp156Gly) NC_000011.10:72195718:CT:TG Identity +LRG_245t2:c.50C>A LRG_245p2:p.Ser17Tyr NC_000023.11:71223756:C:A ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_000166.6:c.595G>C NP_000157.1:p.Gly199Arg NC_000023.11:71224301:G:C p.(Gly199Arg) NC_000023.11:71224301:G:C p.(Gly199Arg) NC_000023.11:71224301:G:C Identity +LRG_245t2:c.186C>G LRG_245p2:p.Ser62Arg NC_000023.11:71223892:C:G ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:Data provider error: ValueError: Transcript LRG_245t2 not found ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_245t2, alt_ac=LRG_245t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_245t2 not found +NM_001127660.2:c.776G>T NP_001121132.1:p.Arg259Leu NC_000001.11:11999054:G:T p.(Arg259Leu) NC_000001.11:11999054:G:T p.(Arg259Leu) NC_000001.11:11999054:G:T Identity +NM_001127660.2:c.1066A>G NP_001121132.1:p.Thr356Ala NC_000001.11:12002008:A:G p.(Thr356Ala) NC_000001.11:12002008:A:G p.(Thr356Ala) NC_000001.11:12002008:A:G Identity +NM_000166.6:c.85T>C NP_000157.1:p.Phe29Leu NC_000023.11:71223791:T:C p.(Phe29Leu) NC_000023.11:71223791:T:C p.(Phe29Leu) NC_000023.11:71223791:T:C Identity +NM_002180.3:c.616C>T NP_002171.2:p.Gln206Ter NC_000011.10:68911507:C:T p.(Gln206Ter) NC_000011.10:68911507:C:T p.(Gln206Ter) NC_000011.10:68911507:C:T Identity +NM_001290307.3:c.1813C>T NP_001277236.1:p.Pro605Ser NC_000005.10:138925320:C:T p.(Pro605Ser) NC_000005.10:138925320:C:T p.(Pro605Ser) NC_000005.10:138925320:C:T Identity +NM_000182.5:c.612dup NP_000173.2:p.Arg205Ter NC_000002.12:26230255:A:AA p.(Arg205Ter) NC_000002.12:26230255:A:AA p.(Arg205Ter) ERR:SPDI Identity +NM_018060.4:c.2450G>A NP_060530.3:p.Arg817His NC_000001.11:220141837:G:A p.(Arg817His) NC_000001.11:220141837:G:A p.(Arg817His) NC_000001.11:220141837:G:A Identity +NM_000109.4:c.7376T>A NP_000100.3:p.Leu2459Ter NC_000023.11:31774101:A:T p.(Leu2459Ter) NC_000023.11:31774101:A:T p.(Leu2459Ter) NC_000023.11:31774101:A:T Identity +NM_006231.4:c.6335T>C NP_006222.2:p.Leu2112Pro NC_000012.12:132626312:A:G p.(Leu2112Pro) NC_000012.12:132626312:A:G p.(Leu2112Pro) NC_000012.12:132626312:A:G Identity +NM_002439.5:c.1606A>G NP_002430.3:p.Thr536Ala NC_000005.10:80741500:A:G p.(Thr536Ala) NC_000005.10:80741500:A:G p.(Thr536Ala) NC_000005.10:80741500:A:G Identity +NM_000445.5:c.2876A>G NP_000436.2:p.His959Arg NC_000008.11:143929773:T:C p.(His959Arg) NC_000008.11:143929773:T:C p.(His959Arg) NC_000008.11:143929773:T:C Identity +NM_000215.4:c.2105T>C NP_000206.2:p.Leu702Pro NC_000019.10:17834945:A:G p.(Leu702Pro) NC_000019.10:17834945:A:G p.(Leu702Pro) NC_000019.10:17834945:A:G Identity +NM_001079812.3:c.44G>A NP_001073280.1:p.Arg15Gln NC_000005.10:141618870:C:T p.(Arg15Gln) NC_000005.10:141618870:C:T p.(Arg15Gln) NC_000005.10:141618870:C:T Identity +NM_000118.4:c.1164_1166delCTT NP_000109.1:p.Phe389del NC_000009.12:127820003:AGAAG:AG p.(Phe389del) NC_000009.12:127820003:AGAAG:AG p.(Phe389del) NC_000009.12:127820005:AAG: Identity +NM_002439.5:c.2218C>T NP_002430.3:p.Pro740Ser NC_000005.10:80768967:C:T p.(Pro740Ser) NC_000005.10:80768967:C:T p.(Pro740Ser) NC_000005.10:80768967:C:T Identity +NM_000166.6:c.43del NP_000157.1:p.Arg15fs NC_000023.11:71223748:CC:C p.(Arg15GlyfsTer69) NC_000023.11:71223748:CC:C p.(Arg15GlyfsTer69) NC_000023.11:71223749:C: Analogous +NM_001031714.4:c.323T>A NP_001026884.3:p.Val108Asp NC_000014.9:104701687:T:A p.(Val108Asp) NC_000014.9:104701687:T:A p.(Val108Asp) NC_000014.9:104701687:T:A Identity +NM_001127396.3:c.570G>T NP_001120868.1:p.Lys190Asn NC_000019.10:7642033:G:T p.(Lys190Asn) NC_000019.10:7642033:G:T p.(Lys190Asn) NC_000019.10:7642033:G:T Identity +NM_001131005.2:c.192dup NP_001124477.1:p.Val65fs NC_000005.10:88804663:TTT:TTTT p.(Val65SerfsTer13) NC_000005.10:88804663:TTT:TTTT p.(Val65SerfsTer13) ERR:SPDI Analogous +NM_001206855.3:c.1363G>A NP_001193784.1:p.Ala455Thr NC_000007.14:100627382:C:T p.(Ala455Thr) NC_000007.14:100627382:C:T p.(Ala455Thr) NC_000007.14:100627382:C:T Identity +NM_000268.4:c.1688A>G NP_000259.1:p.Asn563Ser NC_000022.11:29681551:A:G p.(Asn563Ser) NC_000022.11:29681551:A:G p.(Asn563Ser) NC_000022.11:29681551:A:G Identity +NM_000431.4:c.663T>G NP_000422.1:p.Ile221Met NC_000012.12:109586784:T:G p.(Ile221Met) NC_000012.12:109586784:T:G p.(Ile221Met) NC_000012.12:109586784:T:G Identity +NM_001127487.2:c.7804G>A NP_001120959.1:p.Ala2602Thr NC_000007.14:128858129:G:A p.(Ala2602Thr) NC_000007.14:128858129:G:A p.(Ala2602Thr) NC_000007.14:128858129:G:A Identity +NM_000388.4:c.2027C>G NP_000379.3:p.Thr676Arg NC_000003.12:122283980:C:G p.(Thr676Arg) NC_000003.12:122283980:C:G p.(Thr676Arg) NC_000003.12:122283980:C:G Identity +NM_145167.3:c.950G>A NP_660150.1:p.Cys317Tyr NC_000001.11:160030789:C:T p.(Cys317Tyr) NC_000001.11:160030789:C:T p.(Cys317Tyr) NC_000001.11:160030789:C:T Identity +NM_001029896.2:c.695G>A NP_001025067.1:p.Arg232His NC_000023.11:49075574:C:T p.(Arg232His) NC_000023.11:49075574:C:T p.(Arg232His) NC_000023.11:49075574:C:T Identity +NM_025099.6:c.1052G>A NP_079375.3:p.Arg351Gln NC_000017.11:8236082:C:T p.(Arg351Gln) NC_000017.11:8236082:C:T p.(Arg351Gln) NC_000017.11:8236082:C:T Identity +NM_000812.4:c.307C>T NP_000803.2:p.Pro103Ser NC_000004.12:47161314:C:T p.(Pro103Ser) NC_000004.12:47161314:C:T p.(Pro103Ser) NC_000004.12:47161314:C:T Identity +NM_005585.5:c.1000G>C NP_005576.3:p.Val334Leu NC_000015.10:66781043:G:C p.(Val334Leu) NC_000015.10:66781043:G:C p.(Val334Leu) NC_000015.10:66781043:G:C Identity +NM_006267.5:c.20A>C NP_006258.3:p.Asp7Ala NC_000002.12:108719625:A:C p.(Asp7Ala) NC_000002.12:108719625:A:C p.(Asp7Ala) NC_000002.12:108719625:A:C Identity +NM_000548.5:c.1339G>A NP_000539.2:p.Ala447Thr NC_000016.10:2062577:G:A p.(Ala447Thr) NC_000016.10:2062577:G:A p.(Ala447Thr) NC_000016.10:2062577:G:A Identity +NM_032043.3:c.3665A>T NP_114432.2:p.Glu1222Val NC_000017.11:61683380:T:A p.(Glu1222Val) NC_000017.11:61683380:T:A p.(Glu1222Val) NC_000017.11:61683380:T:A Identity +NM_017882.3:c.331T>C NP_060352.1:p.Ser111Pro NC_000015.10:68211829:A:G p.(Ser111Pro) NC_000015.10:68211829:A:G p.(Ser111Pro) NC_000015.10:68211829:A:G Identity +NM_001167733.3:c.2600A>G NP_001161205.1:p.Gln867Arg NC_000006.12:30925937:A:G p.(Gln867Arg) NC_000006.12:30925937:A:G p.(Gln867Arg) NC_000006.12:30925937:A:G Identity +NM_001167734.2:c.194A>G NP_001161206.1:p.His65Arg NC_000006.12:30914939:A:G p.(His65Arg) NC_000006.12:30914939:A:G p.(His65Arg) NC_000006.12:30914939:A:G Identity +NM_002439.5:c.1935_1938dup NP_002430.3:p.His647fs NC_000005.10:80767969:TATAT:TATATATAT p.(His647IlefsTer15) NC_000005.10:80767969:TATAT:TATATATAT p.(His647IlefsTer15) ERR:SPDI Analogous +NM_000211.5:c.718A>G NP_000202.3:p.Met240Val NC_000021.9:44901514:T:C p.(Met240Val) NC_000021.9:44901514:T:C p.(Met240Val) NC_000021.9:44901514:T:C Identity +NM_001042663.3:c.1525T>G NP_001036128.2:p.Cys509Gly NC_000001.11:6470862:A:C p.(Cys509Gly) NC_000001.11:6470862:A:C p.(Cys509Gly) NC_000001.11:6470862:A:C Identity +NM_000088.4:c.2717dup NP_000079.2:p.Lys907fs NC_000017.11:50189488:CC:CCC p.(Lys907GlnfsTer6) NC_000017.11:50189488:CC:CCC p.(Lys907GlnfsTer6) ERR:SPDI Analogous +NM_005546.4:c.82G>T NP_005537.3:p.Val28Phe NC_000005.10:157181058:G:T p.(Val28Phe) NC_000005.10:157181058:G:T p.(Val28Phe) NC_000005.10:157181058:G:T Identity +NM_001290307.3:c.362G>C NP_001277236.1:p.Arg121Pro NC_000005.10:138810097:G:C p.(Arg121Pro) NC_000005.10:138810097:G:C p.(Arg121Pro) NC_000005.10:138810097:G:C Identity +NM_001024688.3:c.1113C>A NP_001019859.1:p.Asn371Lys NC_000008.11:89955320:G:T p.(Asn371Lys) NC_000008.11:89955320:G:T p.(Asn371Lys) NC_000008.11:89955320:G:T Identity +NM_000093.5:c.1442G>T NP_000084.3:p.Gly481Val NC_000009.12:134738755:G:T p.(Gly481Val) NC_000009.12:134738755:G:T p.(Gly481Val) NC_000009.12:134738755:G:T Identity +NM_000257.4:c.1424A>G NP_000248.2:p.Gln475Arg NC_000014.9:23428653:T:C p.(Gln475Arg) NC_000014.9:23428653:T:C p.(Gln475Arg) NC_000014.9:23428653:T:C Identity +NM_004260.4:c.482A>G NP_004251.4:p.Gln161Arg NC_000008.11:144516636:T:C p.(Gln161Arg) NC_000008.11:144516636:T:C p.(Gln161Arg) NC_000008.11:144516636:T:C Identity +NM_001317034.1:c.173A>G NP_001303963.1:p.Tyr58Cys NC_000020.11:50955273:T:C p.(Tyr58Cys) NC_000020.11:50955273:T:C p.(Tyr58Cys) NC_000020.11:50955273:T:C Identity +NM_025114.4:c.5415del NP_079390.3:p.Thr1807fs NC_000012.12:88077867:AA:A p.(Thr1807GlnfsTer9) NC_000012.12:88077867:AA:A p.(Thr1807GlnfsTer9) NC_000012.12:88077867:A: Analogous +NM_000118.4:c.743delA NP_000109.1:p.Asp248Valfs NC_000009.12:127825303:T: p.(Asp248ValfsTer111) NC_000009.12:127825303:T: p.(Asp248ValfsTer111) NC_000009.12:127825303:T: Analogous +NM_001127897.4:c.196C>T NP_001121369.1:p.Gln66Ter NC_000016.10:53696184:G:A p.(Gln66Ter) NC_000016.10:53696184:G:A p.(Gln66Ter) NC_000016.10:53696184:G:A Identity +NM_000113.3:c.373A>C NP_000104.1:p.Asn125His NC_000009.12:129822651:T:G p.(Asn125His) NC_000009.12:129822651:T:G p.(Asn125His) NC_000009.12:129822651:T:G Identity +NM_001077365.2:c.2123A>T NP_001070833.1:p.Glu708Val NC_000009.12:131523050:A:T p.(Glu708Val) NC_000009.12:131523050:A:T p.(Glu708Val) NC_000009.12:131523050:A:T Identity +NM_001040633.2:c.1334del NP_001035723.1:p.Asn445fs NC_000007.14:151564195:TT:T p.(Asn445ThrfsTer2) NC_000007.14:151564195:TT:T p.(Asn445ThrfsTer2) NC_000007.14:151564195:T: Analogous +NM_001365684.2:c.1033A>G NP_001352613.2:p.Ile345Val NC_000005.10:177210304:A:G p.(Ile345Val) NC_000005.10:177210304:A:G p.(Ile345Val) NC_000005.10:177210304:A:G Identity +NM_005732.4:c.2802T>G NP_005723.2:p.Asn934Lys NC_000005.10:132608697:T:G p.(Asn934Lys) NC_000005.10:132608697:T:G p.(Asn934Lys) NC_000005.10:132608697:T:G Identity +NM_000059.4:c.4031A>C NP_000050.3:p.Asn1344Thr NC_000013.11:32338385:A:C p.(Asn1344Thr) NC_000013.11:32338385:A:C p.(Asn1344Thr) NC_000013.11:32338385:A:C Identity +NM_001128844.3:c.2563G>A NP_001122316.1:p.Val855Ile NC_000019.10:11019647:G:A p.(Val855Ile) NC_000019.10:11019647:G:A p.(Val855Ile) NC_000019.10:11019647:G:A Identity +NM_001166110.2:c.434C>A NP_001159582.1:p.Ala145Asp NC_000004.12:168878324:C:A p.(Ala145Asp) NC_000004.12:168878324:C:A p.(Ala145Asp) NC_000004.12:168878324:C:A Identity +LRG_1286t1:c.1493G>A LRG_1286p1:p.Ser498Asn NC_000016.10:14482814:C:T ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found +NM_000335.5:c.2648A>G NP_000326.2:p.Asp883Gly NC_000003.12:38585829:T:C p.(Asp883Gly) NC_000003.12:38585829:T:C p.(Asp883Gly) NC_000003.12:38585829:T:C Identity +NM_001351527.2:c.3650C>T NP_001338456.1:p.Thr1217Met NC_000009.12:132327947:G:A p.(Thr1217Met) NC_000009.12:132327947:G:A p.(Thr1217Met) NC_000009.12:132327947:G:A Identity +NM_000553.6:c.1563A>C NP_000544.2:p.Glu521Asp NC_000008.11:31087906:A:C p.(Glu521Asp) NC_000008.11:31087906:A:C p.(Glu521Asp) NC_000008.11:31087906:A:C Identity +NM_000038.6:c.5946A>C NP_000029.2:p.Lys1982Asn NC_000005.10:112841539:A:C p.(Lys1982Asn) NC_000005.10:112841539:A:C p.(Lys1982Asn) NC_000005.10:112841539:A:C Identity +NM_000057.4:c.1821T>G NP_000048.1:p.Cys607Trp NC_000015.10:90761193:T:G p.(Cys607Trp) NC_000015.10:90761193:T:G p.(Cys607Trp) NC_000015.10:90761193:T:G Identity +NM_173354.5:c.808G>A NP_775490.2:p.Ala270Thr NC_000021.9:43420397:C:T p.(Ala270Thr) NC_000021.9:43420397:C:T p.(Ala270Thr) NC_000021.9:43420397:C:T Identity +NM_004501.3:c.1535A>G NP_004492.2:p.Asn512Ser NC_000001.11:244857619:T:C p.(Asn512Ser) NC_000001.11:244857619:T:C p.(Asn512Ser) NC_000001.11:244857619:T:C Identity +NM_000059.4:c.4442A>T NP_000050.3:p.Glu1481Val NC_000013.11:32338796:A:T p.(Glu1481Val) NC_000013.11:32338796:A:T p.(Glu1481Val) NC_000013.11:32338796:A:T Identity +NM_001363813.1:c.677C>A NP_001350742.1:p.Pro226His NC_000017.11:65557943:G:T p.(Pro226His) NC_000017.11:65557943:G:T p.(Pro226His) NC_000017.11:65557943:G:T Identity +NM_001318918.2:c.1388C>T NP_001305847.1:p.Thr463Met NC_000016.10:4337336:C:T p.(Thr463Met) NC_000016.10:4337336:C:T p.(Thr463Met) NC_000016.10:4337336:C:T Identity +NM_000321.3:c.2206C>T NP_000312.2:p.Gln736Ter NC_000013.11:48463829:C:T p.(Gln736Ter) NC_000013.11:48463829:C:T p.(Gln736Ter) NC_000013.11:48463829:C:T Identity +NM_000455.5:c.508C>G NP_000446.1:p.Gln170Glu NC_000019.10:1220415:C:G p.(Gln170Glu) NC_000019.10:1220415:C:G p.(Gln170Glu) NC_000019.10:1220415:C:G Identity +NM_001346599.2:c.1420G>C NP_001333528.1:p.Asp474His NC_000007.14:105555209:G:C p.(Asp474His) NC_000007.14:105555209:G:C p.(Asp474His) NC_000007.14:105555209:G:C Identity +NM_001042663.3:c.1250C>T NP_001036128.2:p.Ala417Val NC_000001.11:6471629:G:A p.(Ala417Val) NC_000001.11:6471629:G:A p.(Ala417Val) NC_000001.11:6471629:G:A Identity +NM_001285829.2:c.189GCC[6] NP_001272758.1:p.Pro70del NC_000019.10:33301848:GGCGGCGGCGGCGGCGGCGGC:GGCGGCGGCGGCGGCGGC p.(Pro70del) NC_000019.10:33301868:C:GGCGGCGGCGGCGGCGGC ERR:Parse ERR:Parse Identity +NM_000702.4:c.1150A>G NP_000693.1:p.Met384Val NC_000001.11:160128783:A:G p.(Met384Val) NC_000001.11:160128783:A:G p.(Met384Val) NC_000001.11:160128783:A:G Identity +NM_001105206.3:c.1595T>C NP_001098676.2:p.Met532Thr NC_000006.12:112165232:A:G p.(Met532Thr) NC_000006.12:112165232:A:G p.(Met532Thr) NC_000006.12:112165232:A:G Identity +NM_001349370.3:c.3637A>T NP_001336299.1:p.Asn1213Tyr NC_000003.12:47120866:T:A p.(Asn1213Tyr) NC_000003.12:47120866:T:A p.(Asn1213Tyr) NC_000003.12:47120866:T:A Identity +NM_001320641.2:c.1054C>T NP_001307570.1:p.Pro352Ser NC_000002.12:127053996:G:A p.(Pro352Ser) NC_000002.12:127053996:G:A p.(Pro352Ser) NC_000002.12:127053996:G:A Identity +NM_020988.3:c.140G>A NP_066268.1:p.Ser47Asn NC_000016.10:56192594:G:A p.(Ser47Asn) NC_000016.10:56192594:G:A p.(Ser47Asn) NC_000016.10:56192594:G:A Identity +NM_000028.3:c.2024G>A NP_000019.2:p.Arg675Gln NC_000001.11:99881313:G:A p.(Arg675Gln) NC_000001.11:99881313:G:A p.(Arg675Gln) NC_000001.11:99881313:G:A Identity +NM_004260.4:c.166G>T NP_004251.4:p.Gly56Cys NC_000008.11:144517460:C:A p.(Gly56Cys) NC_000008.11:144517460:C:A p.(Gly56Cys) NC_000008.11:144517460:C:A Identity +NM_033071.5:c.8090A>C NP_149062.2:p.Gln2697Pro NC_000006.12:152390387:T:G p.(Gln2697Pro) NC_000006.12:152390387:T:G p.(Gln2697Pro) NC_000006.12:152390387:T:G Identity +NM_000551.4:c.521A>G NP_000542.1:p.Asn174Ser NC_000003.12:10149843:A:G p.(Asn174Ser) NC_000003.12:10149843:A:G p.(Asn174Ser) NC_000003.12:10149843:A:G Identity +NM_001271999.2:c.3167T>C NP_001258928.1:p.Ile1056Thr NC_000001.11:62539770:A:G p.(Ile1056Thr) NC_000001.11:62539770:A:G p.(Ile1056Thr) NC_000001.11:62539770:A:G Identity +NM_001256560.2:c.351dup NP_001243489.1:p.Asp118fs NC_000003.12:58201101:TTT:TTTT p.(Asp118ArgfsTer16) NC_000003.12:58201101:TTT:TTTT p.(Asp118ArgfsTer16) ERR:SPDI Analogous +NM_001005360.3:c.439G>A NP_001005360.1:p.Asp147Asn NC_000019.10:10775755:G:A p.(Asp147Asn) NC_000019.10:10775755:G:A p.(Asp147Asn) NC_000019.10:10775755:G:A Identity +LRG_1332t1:c.1165G>A LRG_1332p1:p.Gly389Ser NC_000016.10:69655767:G:A ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found +NM_001313726.2:c.1711G>A NP_001300655.1:p.Glu571Lys NC_000011.10:26598444:G:A p.(Glu571Lys) NC_000011.10:26598444:G:A p.(Glu571Lys) NC_000011.10:26598444:G:A Identity +NM_002471.4:c.5656G>A NP_002462.2:p.Glu1886Lys NC_000014.9:23383229:C:T p.(Glu1886Lys) NC_000014.9:23383229:C:T p.(Glu1886Lys) NC_000014.9:23383229:C:T Identity +NM_001105206.3:c.4234C>T NP_001098676.2:p.Leu1412Phe NC_000006.12:112128974:G:A p.(Leu1412Phe) NC_000006.12:112128974:G:A p.(Leu1412Phe) NC_000006.12:112128974:G:A Identity +NM_001039885.3:c.551C>T NP_001034974.1:p.Ala184Val NC_000019.10:46756000:C:T p.(Ala184Val) NC_000019.10:46756000:C:T p.(Ala184Val) NC_000019.10:46756000:C:T Identity +NM_001272003.2:c.2815G>A NP_001258932.1:p.Val939Met NC_000009.12:135784540:G:A p.(Val939Met) NC_000009.12:135784540:G:A p.(Val939Met) NC_000009.12:135784540:G:A Identity +NM_001318785.2:c.862del NP_001305714.1:p.Leu288fs NC_000006.12:87518657:GG:G p.(Leu288TyrfsTer20) NC_000006.12:87518657:GG:G p.(Leu288TyrfsTer20) NC_000006.12:87518657:G: Analogous +NM_000546.6:c.319T>G NP_000537.3:p.Tyr107Asp NC_000017.11:7676049:A:C p.(Tyr107Asp) NC_000017.11:7676049:A:C p.(Tyr107Asp) NC_000017.11:7676049:A:C Identity +NM_004958.4:c.2128C>G NP_004949.1:p.Leu710Val NC_000001.11:11237922:G:C p.(Leu710Val) NC_000001.11:11237922:G:C p.(Leu710Val) NC_000001.11:11237922:G:C Identity +NM_001195573.1:c.4336G>A NP_001182502.1:p.Asp1446Asn NC_000014.9:95096583:C:T p.(Asp1446Asn) NC_000014.9:95096583:C:T p.(Asp1446Asn) NC_000014.9:95096583:C:T Identity +NM_001369369.1:c.1454C>T NP_001356298.1:p.Pro485Leu NC_000017.11:28535024:C:T p.(Pro485Leu) NC_000017.11:28535024:C:T p.(Pro485Leu) NC_000017.11:28535024:C:T Identity +NM_001323989.1:c.160C>T NP_001310918.1:p.Arg54Cys NC_000005.10:138887615:C:T p.(Arg54Cys) NC_000005.10:138887615:C:T p.(Arg54Cys) NC_000005.10:138887615:C:T Identity +NM_001848.3:c.269C>T NP_001839.2:p.Ala90Val NC_000021.9:45984309:C:T p.(Ala90Val) NC_000021.9:45984309:C:T p.(Ala90Val) NC_000021.9:45984309:C:T Identity +NM_001177984.3:c.3061G>T NP_001171455.1:p.Ala1021Ser NC_000012.12:51769023:G:T p.(Ala1021Ser) NC_000012.12:51769023:G:T p.(Ala1021Ser) NC_000012.12:51769023:G:T Identity +NM_001290265.2:c.695G>T NP_001277194.1:p.Ser232Ile NC_000019.10:18878950:C:A p.(Ser232Ile) NC_000019.10:18878950:C:A p.(Ser232Ile) NC_000019.10:18878950:C:A Identity +NM_000391.4:c.17G>C NP_000382.3:p.Cys6Ser NC_000011.10:6619383:C:G p.(Cys6Ser) NC_000011.10:6619383:C:G p.(Cys6Ser) NC_000011.10:6619383:C:G Identity +NM_001178129.2:c.1738C>T NP_001171600.1:p.Leu580Phe NC_000007.14:83367995:G:A p.(Leu580Phe) NC_000007.14:83367995:G:A p.(Leu580Phe) NC_000007.14:83367995:G:A Identity +NM_006231.4:c.6312C>A NP_006222.2:p.Phe2104Leu NC_000012.12:132632332:G:T p.(Phe2104Leu) NC_000012.12:132632332:G:T p.(Phe2104Leu) NC_000012.12:132632332:G:T Identity +NM_024577.4:c.2957A>G NP_078853.2:p.His986Arg NC_000005.10:149026667:T:C p.(His986Arg) NC_000005.10:149026667:T:C p.(His986Arg) NC_000005.10:149026667:T:C Identity +NM_001100112.2:c.4084G>A NP_001093582.1:p.Glu1362Lys NC_000017.11:10526701:C:T p.(Glu1362Lys) NC_000017.11:10526701:C:T p.(Glu1362Lys) NC_000017.11:10526701:C:T Identity +LRG_1122t1:c.6532G>A LRG_1122p1:p.Ala2178Thr NC_000009.12:136497206:C:T ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1122t1, alt_ac=LRG_1122t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1122t1 not found +NM_001127660.2:c.347T>C NP_001121132.1:p.Met116Thr NC_000001.11:11996190:T:C p.(Met116Thr) NC_000001.11:11996190:T:C p.(Met116Thr) NC_000001.11:11996190:T:C Identity +NM_001172420.2:c.636A>C NP_001165891.1:p.Gln212His NC_000006.12:52452806:A:C p.(Gln212His) NC_000006.12:52452806:A:C p.(Gln212His) NC_000006.12:52452806:A:C Identity +NM_001277961.3:c.1982G>A NP_001264890.1:p.Gly661Asp NC_000011.10:4091403:G:A p.(Gly661Asp) NC_000011.10:4091403:G:A p.(Gly661Asp) NC_000011.10:4091403:G:A Identity +NM_003000.3:c.148_151dup NP_002991.2:p.Lys51fs NC_000001.11:17044809:TGTCTG:TGTCTGTCTG p.(Lys51ArgfsTer13) NC_000001.11:17044809:TGTCTG:TGTCTGTCTG p.(Lys51ArgfsTer13) ERR:SPDI Analogous +NM_002471.4:c.2716C>T NP_002462.2:p.Arg906Cys NC_000014.9:23393877:G:A p.(Arg906Cys) NC_000014.9:23393877:G:A p.(Arg906Cys) NC_000014.9:23393877:G:A Identity +NM_000068.4:c.6502G>A NP_000059.3:p.Ala2168Thr NC_000019.10:13209353:C:T p.(Ala2168Thr) NC_000019.10:13209353:C:T p.(Ala2168Thr) NC_000019.10:13209353:C:T Identity +NM_006231.4:c.6658G>A NP_006222.2:p.Val2220Ile NC_000012.12:132624993:C:T p.(Val2220Ile) NC_000012.12:132624993:C:T p.(Val2220Ile) NC_000012.12:132624993:C:T Identity +NM_004370.6:c.8713C>T NP_004361.3:p.Arg2905Ter NC_000006.12:75091361:G:A p.(Arg2905Ter) NC_000006.12:75091361:G:A p.(Arg2905Ter) NC_000006.12:75091361:G:A Identity +LRG_1327t1:c.1060G>C LRG_1327p1:p.Val354Leu NC_000003.12:53186000:G:C ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_052813.5:c.779G>A NP_434700.2:p.Arg260Gln NC_000009.12:136370549:C:T p.(Arg260Gln) NC_000009.12:136370549:C:T p.(Arg260Gln) NC_000009.12:136370549:C:T Identity +NM_015180.6:c.8786G>A NP_055995.4:p.Arg2929Lys NC_000014.9:64052698:G:A p.(Arg2929Lys) NC_000014.9:64052698:G:A p.(Arg2929Lys) NC_000014.9:64052698:G:A Identity +NM_000051.4:c.607G>A NP_000042.3:p.Asp203Asn NC_000011.10:108244062:G:A p.(Asp203Asn) NC_000011.10:108244062:G:A p.(Asp203Asn) NC_000011.10:108244062:G:A Identity +NM_024334.3:c.487C>T NP_077310.1:p.Arg163Ter NC_000003.12:14132909:C:T p.(Arg163Ter) NC_000003.12:14132909:C:T p.(Arg163Ter) NC_000003.12:14132909:C:T Identity +NM_001005407.2:c.2346C>A NP_001005407.1:p.Phe782Leu NC_000016.10:1204352:C:A p.(Phe782Leu) NC_000016.10:1204352:C:A p.(Phe782Leu) NC_000016.10:1204352:C:A Identity +NM_001308133.2:c.907C>G NP_001295062.1:p.Leu303Val NC_000014.9:45151462:C:G p.(Leu303Val) NC_000014.9:45151462:C:G p.(Leu303Val) NC_000014.9:45151462:C:G Identity +NM_000548.5:c.5010C>A NP_000539.2:p.His1670Gln NC_000016.10:2087882:C:A p.(His1670Gln) NC_000016.10:2087882:C:A p.(His1670Gln) NC_000016.10:2087882:C:A Identity +NM_002439.5:c.586del NP_002430.3:p.Thr196fs NC_000005.10:80670101:AA:A p.(Thr196HisfsTer37) NC_000005.10:80670101:AA:A p.(Thr196HisfsTer37) NC_000005.10:80670102:A: Analogous +NM_033071.5:c.10730G>A NP_149062.2:p.Arg3577Gln NC_000006.12:152354875:C:T p.(Arg3577Gln) NC_000006.12:152354875:C:T p.(Arg3577Gln) NC_000006.12:152354875:C:T Identity +NM_001145102.2:c.329C>G NP_001138574.1:p.Ala110Gly NC_000015.10:67170589:C:G p.(Ala110Gly) NC_000015.10:67170589:C:G p.(Ala110Gly) NC_000015.10:67170589:C:G Identity +NM_000449.4:c.803A>G NP_000440.1:p.Asn268Ser NC_000001.11:151343396:T:C p.(Asn268Ser) NC_000001.11:151343396:T:C p.(Asn268Ser) NC_000001.11:151343396:T:C Identity +NM_001178133.2:c.649_661del NP_001171604.1:p.Gln217fs NC_000010.11:102593684:GGCAGGGCATCCTGG:GG p.(Gln217SerfsTer14) NC_000010.11:102593684:GGCAGGGCATCCTGG:GG p.(Gln217SerfsTer14) NC_000010.11:102593686:CAGGGCATCCTGG: Analogous +NM_002439.5:c.2032CTC[1] NP_002430.3:p.Leu679del NC_000005.10:80768067:CTCCTC:CTC p.(Leu679del) NC_000005.10:80768067:C:CTC ERR:Parse ERR:Parse Identity +NM_032043.3:c.3422A>C NP_114432.2:p.Asp1141Ala NC_000017.11:61683623:T:G p.(Asp1141Ala) NC_000017.11:61683623:T:G p.(Asp1141Ala) NC_000017.11:61683623:T:G Identity +NM_002439.5:c.1148dup NP_002430.3:p.Asn385fs NC_000005.10:80675095:AAAAAAAA:AAAAAAAAA p.(Asn385GlnfsTer19) NC_000005.10:80675095:AAAAAAAA:AAAAAAAAA p.(Asn385GlnfsTer19) ERR:SPDI Analogous +NM_032043.3:c.2339T>C NP_114432.2:p.Ile780Thr NC_000017.11:61743052:A:G p.(Ile780Thr) NC_000017.11:61743052:A:G p.(Ile780Thr) NC_000017.11:61743052:A:G Identity +NM_000088.4:c.3820_3821dup NP_000079.2:p.Trp1275fs NC_000017.11:50186500:TA:TATA p.(Trp1275ThrfsTer57) NC_000017.11:50186500:TA:TATA p.(Trp1275ThrfsTer57) ERR:SPDI Analogous +NM_001193304.3:c.652G>A NP_001180233.1:p.Glu218Lys NC_000002.12:96253872:C:T p.(Glu218Lys) NC_000002.12:96253872:C:T p.(Glu218Lys) NC_000002.12:96253872:C:T Identity +NM_001346083.2:c.2506G>A NP_001333012.1:p.Val836Met NC_000001.11:205070499:G:A p.(Val836Met) NC_000001.11:205070499:G:A p.(Val836Met) NC_000001.11:205070499:G:A Identity +NM_001079812.3:c.1124G>T NP_001073280.1:p.Arg375Leu NC_000005.10:141578236:C:A p.(Arg375Leu) NC_000005.10:141578236:C:A p.(Arg375Leu) NC_000005.10:141578236:C:A Identity +NM_001972.4:c.347A>G NP_001963.1:p.Asn116Ser NC_000019.10:853383:A:G p.(Asn116Ser) NC_000019.10:853383:A:G p.(Asn116Ser) NC_000019.10:853383:A:G Identity +LRG_402t1:c.11837G>A LRG_402p1:p.Gly3946Asp NC_000001.11:237778726:G:A ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001365536.1:c.5783A>G NP_001352465.1:p.Asn1928Ser NC_000002.12:166198855:T:C p.(Asn1928Ser) NC_000002.12:166198855:T:C p.(Asn1928Ser) NC_000002.12:166198855:T:C Identity +NM_002439.5:c.1947G>C NP_002430.3:p.Lys649Asn NC_000005.10:80767982:G:C p.(Lys649Asn) NC_000005.10:80767982:G:C p.(Lys649Asn) NC_000005.10:80767982:G:C Identity +NM_000378.6:c.1145C>T NP_000369.4:p.Ala382Val NC_000011.10:32396324:G:A p.(Ala382Val) NC_000011.10:32396324:G:A p.(Ala382Val) NC_000011.10:32396324:G:A Identity +NM_001293228.2:c.256G>C NP_001280157.1:p.Glu86Gln NC_000002.12:15942319:G:C p.(Glu86Gln) NC_000002.12:15942319:G:C p.(Glu86Gln) NC_000002.12:15942319:G:C Identity +NM_000445.5:c.5491G>A NP_000436.2:p.Ala1831Thr NC_000008.11:143924518:C:T p.(Ala1831Thr) NC_000008.11:143924518:C:T p.(Ala1831Thr) NC_000008.11:143924518:C:T Identity +NM_001378454.1:c.12151C>T NP_001365383.1:p.Arg4051Cys NC_000002.12:73602220:C:T p.(Arg4051Cys) NC_000002.12:73602220:C:T p.(Arg4051Cys) NC_000002.12:73602220:C:T Identity +NM_017802.4:c.1030C>T NP_060272.3:p.Arg344Cys NC_000007.14:754593:C:T p.(Arg344Cys) NC_000007.14:754593:C:T p.(Arg344Cys) NC_000007.14:754593:C:T Identity +NM_000474.4:c.328C>T NP_000465.1:p.Arg110Trp NC_000007.14:19116993:G:A p.(Arg110Trp) NC_000007.14:19116993:G:A p.(Arg110Trp) NC_000007.14:19116993:G:A Identity +LRG_1286t1:c.924A>C LRG_1286p1:p.Leu308Phe NC_000016.10:14586355:T:G ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1286t1, alt_ac=LRG_1286t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1286t1 not found +NM_001031737.3:c.433C>T NP_001026907.2:p.Gln145Ter NC_000016.10:725414:G:A p.(Gln145Ter) NC_000016.10:725414:G:A p.(Gln145Ter) NC_000016.10:725414:G:A Identity +NM_002439.5:c.1060dup NP_002430.3:p.Val354fs NC_000005.10:80675014:G:GG p.(Val354GlyfsTer4) NC_000005.10:80675014:G:GG p.(Val354GlyfsTer4) ERR:SPDI Analogous +NM_001369906.1:c.388A>C NP_001356835.1:p.Asn130His NC_000022.11:23573522:T:G p.(Asn130His) NC_000022.11:23573522:T:G p.(Asn130His) NC_000022.11:23573522:T:G Identity +NM_021942.6:c.1654G>A NP_068761.4:p.Asp552Asn NC_000004.12:183685294:G:A p.(Asp552Asn) NC_000004.12:183685294:G:A p.(Asp552Asn) NC_000004.12:183685294:G:A Identity +NM_000071.3:c.422C>T NP_000062.1:p.Thr141Met NC_000021.9:43066271:G:A p.(Thr141Met) NC_000021.9:43066271:G:A p.(Thr141Met) NC_000021.9:43066271:G:A Identity +NM_002439.5:c.1310_1311del NP_002430.3:p.Glu437fs NC_000005.10:80679060:AGAG:AG p.(Glu437GlyfsTer10) NC_000005.10:80679060:AGAG:AG p.(Glu437GlyfsTer10) NC_000005.10:80679062:AG: Analogous +LRG_1323t1:c.1598A>C LRG_1323p1:p.Gln533Pro NC_000002.12:47024315:A:C ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1323t1, alt_ac=LRG_1323t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1323t1 not found +NM_000553.6:c.1073A>G NP_000544.2:p.Asp358Gly NC_000008.11:31081099:A:G p.(Asp358Gly) NC_000008.11:31081099:A:G p.(Asp358Gly) NC_000008.11:31081099:A:G Identity +NM_001290048.2:c.350A>C NP_001276977.1:p.Lys117Thr NC_000011.10:63658761:T:G p.(Lys117Thr) NC_000011.10:63658761:T:G p.(Lys117Thr) NC_000011.10:63658761:T:G Identity +NM_001035511.3:c.178A>G NP_001030588.1:p.Ser60Gly NC_000001.11:161328495:A:G p.(Ser60Gly) NC_000001.11:161328495:A:G p.(Ser60Gly) NC_000001.11:161328495:A:G Identity +NM_001324192.1:c.563G>C NP_001311121.1:p.Gly188Ala NC_000020.11:3889662:G:C p.(Gly188Ala) NC_000020.11:3889662:G:C p.(Gly188Ala) NC_000020.11:3889662:G:C Identity +NM_000432.4:c.253A>G NP_000423.2:p.Met85Val NC_000012.12:110914206:T:C p.(Met85Val) NC_000012.12:110914206:T:C p.(Met85Val) NC_000012.12:110914206:T:C Identity +NM_001277126.2:c.541C>T NP_001264055.1:p.Arg181Trp NC_000019.10:53811117:G:A p.(Arg181Trp) NC_000019.10:53811117:G:A p.(Arg181Trp) NC_000019.10:53811117:G:A Identity +NM_001007188.4:c.167A>G NP_001007189.1:p.Lys56Arg NC_000022.11:31760675:A:G p.(Lys56Arg) NC_000022.11:31760675:A:G p.(Lys56Arg) NC_000022.11:31760675:A:G Identity +NM_001081.4:c.5470G>A NP_001072.2:p.Val1824Ile NC_000010.11:16940109:C:T p.(Val1824Ile) NC_000010.11:16940109:C:T p.(Val1824Ile) NC_000010.11:16940109:C:T Identity +NM_001253815.2:c.302A>G NP_001240744.1:p.His101Arg NC_000008.11:144359793:A:G p.(His101Arg) NC_000008.11:144359793:A:G p.(His101Arg) NC_000008.11:144359793:A:G Identity +NM_000268.4:c.515G>A NP_000259.1:p.Arg172Lys NC_000022.11:29654723:G:A p.(Arg172Lys) NC_000022.11:29654723:G:A p.(Arg172Lys) NC_000022.11:29654723:G:A Identity +NM_001256850.1:c.96089C>A NP_001243779.1:p.Ala32030Asp NC_000002.12:178535602:G:T p.(Ala32030Asp) NC_000002.12:178535602:G:T p.(Ala32030Asp) NC_000002.12:178535602:G:T Identity +NM_004304.5:c.932G>C NP_004295.2:p.Arg311Pro NC_000002.12:29694869:C:G p.(Arg311Pro) NC_000002.12:29694869:C:G p.(Arg311Pro) NC_000002.12:29694869:C:G Identity +NM_000391.4:c.325C>T NP_000382.3:p.Gln109Ter NC_000011.10:6617680:G:A p.(Gln109Ter) NC_000011.10:6617680:G:A p.(Gln109Ter) NC_000011.10:6617680:G:A Identity +LRG_1317t1:c.1229T>C LRG_1317p1:p.Leu410Pro NC_000002.12:32250634:A:G ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found +NM_001190241.2:c.1768G>A NP_001177170.1:p.Gly590Ser NC_000003.12:160268456:C:T p.(Gly590Ser) NC_000003.12:160268456:C:T p.(Gly590Ser) NC_000003.12:160268456:C:T Identity +NM_145038.5:c.14G>A NP_659475.2:p.Gly5Glu NC_000002.12:26402002:G:A p.(Gly5Glu) NC_000002.12:26402002:G:A p.(Gly5Glu) NC_000002.12:26402002:G:A Identity +NM_000535.7:c.2023G>T NP_000526.2:p.Glu675Ter NC_000007.14:5982974:C:A p.(Glu675Ter) NC_000007.14:5982974:C:A p.(Glu675Ter) NC_000007.14:5982974:C:A Identity +NM_001376.5:c.6355G>C NP_001367.2:p.Gly2119Arg NC_000014.9:102010408:G:C p.(Gly2119Arg) NC_000014.9:102010408:G:C p.(Gly2119Arg) NC_000014.9:102010408:G:C Identity +NM_000143.4:c.1123A>G NP_000134.2:p.Thr375Ala NC_000001.11:241502555:T:C p.(Thr375Ala) NC_000001.11:241502555:T:C p.(Thr375Ala) NC_000001.11:241502555:T:C Identity +NM_001277115.2:c.618G>C NP_001264044.1:p.Met206Ile NC_000007.14:21558923:G:C p.(Met206Ile) NC_000007.14:21558923:G:C p.(Met206Ile) NC_000007.14:21558923:G:C Identity +LRG_1366t1:c.443C>T LRG_1366p1:p.Ala148Val NC_000016.10:2044711:G:A ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found +NM_001363520.3:c.63A>C NP_001350449.1:p.Arg21Ser NC_000004.12:127957591:T:G p.(Arg21Ser) NC_000004.12:127957591:T:G p.(Arg21Ser) NC_000004.12:127957591:T:G Identity +NM_017890.5:c.4951G>A NP_060360.3:p.Val1651Ile NC_000008.11:99556579:G:A p.(Val1651Ile) NC_000008.11:99556579:G:A p.(Val1651Ile) NC_000008.11:99556579:G:A Identity +NM_001317184.2:c.1273T>A NP_001304113.1:p.Phe425Ile NC_000016.10:68815649:T:A p.(Phe425Ile) NC_000016.10:68815649:T:A p.(Phe425Ile) NC_000016.10:68815649:T:A Identity +NM_000109.4:c.4586dup NP_000100.3:p.Asn1529fs NC_000023.11:32386373:TTTT:TTTTT p.(Asn1529LysfsTer6) NC_000023.11:32386373:TTTT:TTTTT p.(Asn1529LysfsTer6) ERR:SPDI Analogous +NM_001256849.1:c.2293G>C NP_001243778.1:p.Val765Leu NC_000019.10:50413783:G:C p.(Val765Leu) NC_000019.10:50413783:G:C p.(Val765Leu) NC_000019.10:50413783:G:C Identity +NM_001042594.2:c.1123dup NP_001036059.1:p.Cys375fs NC_000007.14:124829331:A:AA p.(Cys375LeufsTer3) NC_000007.14:124829331:A:AA p.(Cys375LeufsTer3) ERR:SPDI Analogous +NM_003334.4:c.1033C>T NP_003325.2:p.Arg345Trp NC_000023.11:47202480:C:T p.(Arg345Trp) NC_000023.11:47202480:C:T p.(Arg345Trp) NC_000023.11:47202480:C:T Identity +NM_001290307.3:c.232A>G NP_001277236.1:p.Lys78Glu NC_000005.10:138783302:A:G p.(Lys78Glu) NC_000005.10:138783302:A:G p.(Lys78Glu) NC_000005.10:138783302:A:G Identity +NM_032444.4:c.678C>A NP_115820.2:p.His226Gln NC_000016.10:3606555:G:T p.(His226Gln) NC_000016.10:3606555:G:T p.(His226Gln) NC_000016.10:3606555:G:T Identity +NM_000135.4:c.4039G>A NP_000126.2:p.Ala1347Thr NC_000016.10:89739260:C:T p.(Ala1347Thr) NC_000016.10:89739260:C:T p.(Ala1347Thr) NC_000016.10:89739260:C:T Identity +NM_001171653.2:c.3226C>T NP_001165124.1:p.His1076Tyr NC_000002.12:144389797:G:A p.(His1076Tyr) NC_000002.12:144389797:G:A p.(His1076Tyr) NC_000002.12:144389797:G:A Identity +NM_000165.5:c.896G>T NP_000156.1:p.Arg299Leu NC_000006.12:121447742:G:T p.(Arg299Leu) NC_000006.12:121447742:G:T p.(Arg299Leu) NC_000006.12:121447742:G:T Identity +LRG_1327t1:c.549C>A LRG_1327p1:p.Asn183Lys NC_000003.12:53181709:C:A ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_000116.5:c.469G>A NP_000107.1:p.Val157Ile NC_000023.11:154419550:G:A p.(Val157Ile) NC_000023.11:154419550:G:A p.(Val157Ile) NC_000023.11:154419550:G:A Identity +NM_000540.3:c.12901G>A NP_000531.2:p.Ala4301Thr NC_000019.10:38565234:G:A p.(Ala4301Thr) NC_000019.10:38565234:G:A p.(Ala4301Thr) NC_000019.10:38565234:G:A Identity +NM_001407129.1:c.1540delG NP_001394058.1:p.Val514Cysfs NC_000003.12:30691430:GG:G p.(Val514CysfsTer5) NC_000003.12:30691430:GG:G p.(Val514CysfsTer5) NC_000003.12:30691431:G: Analogous +NM_001005505.3:c.2582C>T NP_001005505.1:p.Pro861Leu NC_000003.12:50366837:G:A p.(Pro861Leu) NC_000003.12:50366837:G:A p.(Pro861Leu) NC_000003.12:50366837:G:A Identity +NM_001291997.2:c.548C>G NP_001278926.1:p.Ser183Cys NC_000016.10:78432582:C:G p.(Ser183Cys) NC_000016.10:78432582:C:G p.(Ser183Cys) NC_000016.10:78432582:C:G Identity +NM_000222.3:c.2674C>T NP_000213.1:p.Pro892Ser NC_000004.12:54736797:C:T p.(Pro892Ser) NC_000004.12:54736797:C:T p.(Pro892Ser) NC_000004.12:54736797:C:T Identity +NM_001363813.1:c.739G>A NP_001350742.1:p.Val247Met NC_000017.11:65557881:C:T p.(Val247Met) NC_000017.11:65557881:C:T p.(Val247Met) NC_000017.11:65557881:C:T Identity +NM_002485.5:c.231dup NP_002476.2:p.Val78fs NC_000008.11:89981463:AAA:AAAA p.(Val78CysfsTer2) NC_000008.11:89981463:AAA:AAAA p.(Val78CysfsTer2) ERR:SPDI Analogous +NM_001112741.2:c.1399G>C NP_001106212.1:p.Gly467Arg NC_000011.10:17772492:G:C p.(Gly467Arg) NC_000011.10:17772492:G:C p.(Gly467Arg) NC_000011.10:17772492:G:C Identity +NM_006231.4:c.4799T>C NP_006222.2:p.Ile1600Thr NC_000012.12:132642658:A:G p.(Ile1600Thr) NC_000012.12:132642658:A:G p.(Ile1600Thr) NC_000012.12:132642658:A:G Identity +NM_000028.3:c.2204A>C NP_000019.2:p.His735Pro NC_000001.11:99881586:A:C p.(His735Pro) NC_000001.11:99881586:A:C p.(His735Pro) NC_000001.11:99881586:A:C Identity +NM_006231.4:c.3292A>G NP_006222.2:p.Ile1098Val NC_000012.12:132657953:T:C p.(Ile1098Val) NC_000012.12:132657953:T:C p.(Ile1098Val) NC_000012.12:132657953:T:C Identity +NM_000217.3:c.1207C>A NP_000208.2:p.Pro403Thr NC_000012.12:4912584:C:A p.(Pro403Thr) NC_000012.12:4912584:C:A p.(Pro403Thr) NC_000012.12:4912584:C:A Identity +NM_001127713.1:c.1334C>T NP_001121185.1:p.Ala445Val NC_000014.9:50628244:C:T p.(Ala445Val) NC_000014.9:50628244:C:T p.(Ala445Val) NC_000014.9:50628244:C:T Identity +NM_006267.5:c.9292G>T NP_006258.3:p.Ala3098Ser NC_000002.12:108782784:G:T p.(Ala3098Ser) NC_000002.12:108782784:G:T p.(Ala3098Ser) NC_000002.12:108782784:G:T Identity +NM_206933.4:c.8584C>T NP_996816.3:p.Gln2862Ter NC_000001.11:215877854:G:A p.(Gln2862Ter) NC_000001.11:215877854:G:A p.(Gln2862Ter) NC_000001.11:215877854:G:A Identity +NM_001134363.3:c.569C>T NP_001127835.2:p.Pro190Leu NC_000010.11:110781177:C:T p.(Pro190Leu) NC_000010.11:110781177:C:T p.(Pro190Leu) NC_000010.11:110781177:C:T Identity +NM_002439.5:c.2066T>C NP_002430.3:p.Leu689Pro NC_000005.10:80768101:T:C p.(Leu689Pro) NC_000005.10:80768101:T:C p.(Leu689Pro) NC_000005.10:80768101:T:C Identity +NM_001253815.2:c.1024C>T NP_001240744.1:p.Leu342Phe NC_000008.11:144360611:C:T p.(Leu342Phe) NC_000008.11:144360611:C:T p.(Leu342Phe) NC_000008.11:144360611:C:T Identity +NM_000548.5:c.838A>G NP_000539.2:p.Met280Val NC_000016.10:2057167:A:G p.(Met280Val) NC_000016.10:2057167:A:G p.(Met280Val) NC_000016.10:2057167:A:G Identity +NM_000833.5:c.4310A>G NP_000824.1:p.Asn1437Ser NC_000016.10:9763233:T:C p.(Asn1437Ser) NC_000016.10:9763233:T:C p.(Asn1437Ser) NC_000016.10:9763233:T:C Identity +NM_000071.3:c.866A>G NP_000062.1:p.Glu289Gly NC_000021.9:43063040:T:C p.(Glu289Gly) NC_000021.9:43063040:T:C p.(Glu289Gly) NC_000021.9:43063040:T:C Identity +NM_021072.4:c.2353C>T NP_066550.2:p.Pro785Ser NC_000005.10:45262240:G:A p.(Pro785Ser) NC_000005.10:45262240:G:A p.(Pro785Ser) NC_000005.10:45262240:G:A Identity +NM_001160227.2:c.6380G>A NP_001153699.1:p.Arg2127His NC_000015.10:44567458:C:T p.(Arg2127His) NC_000015.10:44567458:C:T p.(Arg2127His) NC_000015.10:44567458:C:T Identity +NM_000321.3:c.1454C>G NP_000312.2:p.Ser485Cys NC_000013.11:48380196:C:G p.(Ser485Cys) NC_000013.11:48380196:C:G p.(Ser485Cys) NC_000013.11:48380196:C:G Identity +NM_000535.7:c.1060G>A NP_000526.2:p.Val354Ile NC_000007.14:5989883:C:T p.(Val354Ile) NC_000007.14:5989883:C:T p.(Val354Ile) NC_000007.14:5989883:C:T Identity +NM_000548.5:c.2890A>G NP_000539.2:p.Lys964Glu NC_000016.10:2077649:A:G p.(Lys964Glu) NC_000016.10:2077649:A:G p.(Lys964Glu) NC_000016.10:2077649:A:G Identity +NM_001081640.2:c.6802A>G NP_001075109.1:p.Lys2268Glu NC_000008.11:47854173:T:C p.(Lys2268Glu) NC_000008.11:47854173:T:C p.(Lys2268Glu) NC_000008.11:47854173:T:C Identity +NM_001042594.2:c.71A>G NP_001036059.1:p.Asp24Gly NC_000007.14:124863431:T:C p.(Asp24Gly) NC_000007.14:124863431:T:C p.(Asp24Gly) NC_000007.14:124863431:T:C Identity +NM_000143.4:c.1151C>T NP_000134.2:p.Ala384Val NC_000001.11:241502527:G:A p.(Ala384Val) NC_000001.11:241502527:G:A p.(Ala384Val) NC_000001.11:241502527:G:A Identity +NM_000127.3:c.364C>T NP_000118.2:p.Gln122Ter NC_000008.11:118110682:G:A p.(Gln122Ter) NC_000008.11:118110682:G:A p.(Gln122Ter) NC_000008.11:118110682:G:A Identity +NM_000038.6:c.3772A>G NP_000029.2:p.Thr1258Ala NC_000005.10:112839365:A:G p.(Thr1258Ala) NC_000005.10:112839365:A:G p.(Thr1258Ala) NC_000005.10:112839365:A:G Identity +NM_001303256.3:c.2354C>T NP_001290185.1:p.Ser785Leu NC_000022.11:30933491:G:A p.(Ser785Leu) NC_000022.11:30933491:G:A p.(Ser785Leu) NC_000022.11:30933491:G:A Identity +NM_000243.3:c.836C>T NP_000234.1:p.Ala279Val NC_000016.10:3254231:G:A p.(Ala279Val) NC_000016.10:3254231:G:A p.(Ala279Val) NC_000016.10:3254231:G:A Identity +NM_000059.4:c.8473G>C NP_000050.3:p.Ala2825Pro NC_000013.11:32370542:G:C p.(Ala2825Pro) NC_000013.11:32370542:G:C p.(Ala2825Pro) NC_000013.11:32370542:G:C Identity +NM_002439.5:c.2216dup NP_002430.3:p.Asn739fs NC_000005.10:80768960:AAAAAA:AAAAAAA p.(Asn739LysfsTer29) NC_000005.10:80768960:AAAAAA:AAAAAAA p.(Asn739LysfsTer29) ERR:SPDI Analogous +NM_001127207.2:c.2141T>C NP_001120679.1:p.Ile714Thr NC_000002.12:216464666:T:C p.(Ile714Thr) NC_000002.12:216464666:T:C p.(Ile714Thr) NC_000002.12:216464666:T:C Identity +NM_001258392.3:c.1546C>T NP_001245321.1:p.Arg516Cys NC_000011.10:72294633:G:A p.(Arg516Cys) NC_000011.10:72294633:G:A p.(Arg516Cys) NC_000011.10:72294633:G:A Identity +NM_000264.5:c.2717G>A NP_000255.2:p.Arg906His NC_000009.12:95459769:C:T p.(Arg906His) NC_000009.12:95459769:C:T p.(Arg906His) NC_000009.12:95459769:C:T Identity +NM_001317184.2:c.910A>G NP_001304113.1:p.Ile304Val NC_000016.10:68811760:A:G p.(Ile304Val) NC_000016.10:68811760:A:G p.(Ile304Val) NC_000016.10:68811760:A:G Identity +NM_000118.4:c.485_488delTGAA NP_000109.1:p.Asn163Thrfs NC_000009.12:127826541:TCATTCA:TCA p.(Asn163ThrfsTer58) NC_000009.12:127826541:TCATTCA:TCA p.(Asn163ThrfsTer58) NC_000009.12:127826544:TTCA: Analogous +NM_000551.4:c.130G>A NP_000542.1:p.Gly44Ser NC_000003.12:10141976:G:A p.(Gly44Ser) NC_000003.12:10141976:G:A p.(Gly44Ser) NC_000003.12:10141976:G:A Identity +NM_000335.5:c.2912G>A NP_000326.2:p.Arg971His NC_000003.12:38581246:C:T p.(Arg971His) NC_000003.12:38581246:C:T p.(Arg971His) NC_000003.12:38581246:C:T Identity +NM_001286256.2:c.356G>A NP_001273185.1:p.Ser119Asn NC_000012.12:57248157:C:T p.(Ser119Asn) NC_000012.12:57248157:C:T p.(Ser119Asn) NC_000012.12:57248157:C:T Identity +NM_000179.3:c.313del NP_000170.1:p.Trp105fs NC_000002.12:47790978:T: p.(Trp105GlyfsTer44) NC_000002.12:47790978:T: p.(Trp105GlyfsTer44) NC_000002.12:47790978:T: Analogous +NM_001365536.1:c.109GAA[1] NP_001352465.1:p.Glu38del NC_000002.12:166311642:TTCTTCTT:TTCTT p.(Glu38del) NC_000002.12:166311647:C:TTC ERR:Parse ERR:Parse Identity +NM_001353765.2:c.1481T>G NP_001340694.1:p.Leu494Arg NC_000002.12:29193401:A:C p.(Leu494Arg) NC_000002.12:29193401:A:C p.(Leu494Arg) NC_000002.12:29193401:A:C Identity +LRG_1254t1:c.1441C>T LRG_1254p1:p.Arg481Ter NC_000017.11:4898776:G:A ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found ERR:AlignmentMapper(tx_ac=LRG_1254t1, alt_ac=LRG_1254t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1254t1, alt_ac=LRG_1254t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1254t1 not found +NM_198525.3:c.1643C>T NP_940927.2:p.Pro548Leu NC_000015.10:89646974:G:A p.(Pro548Leu) NC_000015.10:89646974:G:A p.(Pro548Leu) NC_000015.10:89646974:G:A Identity +NM_001170634.1:c.685G>T NP_001164105.1:p.Gly229Cys NC_000016.10:31185102:G:T p.(Gly229Cys) NC_000016.10:31185102:G:T p.(Gly229Cys) NC_000016.10:31185102:G:T Identity +NM_000179.3:c.3343A>G NP_000170.1:p.Ile1115Val NC_000002.12:47803589:A:G p.(Ile1115Val) NC_000002.12:47803589:A:G p.(Ile1115Val) NC_000002.12:47803589:A:G Identity +NM_000548.5:c.1991C>T NP_000539.2:p.Ser664Phe NC_000016.10:2071827:C:T p.(Ser664Phe) NC_000016.10:2071827:C:T p.(Ser664Phe) NC_000016.10:2071827:C:T Identity +NM_000023.4:c.721C>T NP_000014.1:p.Arg241Cys NC_000017.11:50169227:C:T p.(Arg241Cys) NC_000017.11:50169227:C:T p.(Arg241Cys) NC_000017.11:50169227:C:T Identity +NM_012327.6:c.1693C>T NP_036459.1:p.Arg565Cys NC_000018.10:62106862:G:A p.(Arg565Cys) NC_000018.10:62106862:G:A p.(Arg565Cys) NC_000018.10:62106862:G:A Identity +NM_016938.5:c.554G>A NP_058634.4:p.Arg185His NC_000011.10:65870173:C:T p.(Arg185His) NC_000011.10:65870173:C:T p.(Arg185His) NC_000011.10:65870173:C:T Identity +NM_000719.7:c.1429G>A NP_000710.5:p.Glu477Lys NC_000012.12:2549980:G:A p.(Glu477Lys) NC_000012.12:2549980:G:A p.(Glu477Lys) NC_000012.12:2549980:G:A Identity +NM_001033604.2:c.767C>T NP_001028776.1:p.Ser256Leu NC_000007.14:33273075:C:T p.(Ser256Leu) NC_000007.14:33273075:C:T p.(Ser256Leu) NC_000007.14:33273075:C:T Identity +NM_001122633.3:c.121G>T NP_001116105.2:p.Val41Phe NC_000002.12:210556853:G:T p.(Val41Phe) NC_000002.12:210556853:G:T p.(Val41Phe) NC_000002.12:210556853:G:T Identity +NM_002439.5:c.146del NP_002430.3:p.Pro49fs NC_000005.10:80654870:CCC:CC p.(Pro49LeufsTer31) NC_000005.10:80654870:CCC:CC p.(Pro49LeufsTer31) NC_000005.10:80654872:C: Analogous +NM_000138.5:c.5279A>G NP_000129.3:p.Tyr1760Cys NC_000015.10:48460262:T:C p.(Tyr1760Cys) NC_000015.10:48460262:T:C p.(Tyr1760Cys) NC_000015.10:48460262:T:C Identity +NM_000109.4:c.9444del NP_000100.3:p.Ile3149fs NC_000023.11:31209592:A: p.(Ile3149PhefsTer23) NC_000023.11:31209592:A: p.(Ile3149PhefsTer23) NC_000023.11:31209592:A: Analogous +NM_024110.4:c.2320G>A NP_077015.2:p.Val774Ile NC_000017.11:80204262:G:A p.(Val774Ile) NC_000017.11:80204262:G:A p.(Val774Ile) NC_000017.11:80204262:G:A Identity +NM_001003786.3:c.163C>G NP_001003786.1:p.Pro55Ala NC_000017.11:63713479:G:C p.(Pro55Ala) NC_000017.11:63713479:G:C p.(Pro55Ala) NC_000017.11:63713479:G:C Identity +NM_001172420.2:c.541G>C NP_001165891.1:p.Glu181Gln NC_000006.12:52452711:G:C p.(Glu181Gln) NC_000006.12:52452711:G:C p.(Glu181Gln) NC_000006.12:52452711:G:C Identity +NM_005477.3:c.1511C>A NP_005468.1:p.Thr504Asn NC_000015.10:73329651:G:T p.(Thr504Asn) NC_000015.10:73329651:G:T p.(Thr504Asn) NC_000015.10:73329651:G:T Identity +NM_000833.5:c.292C>T NP_000824.1:p.Leu98Phe NC_000016.10:10180119:G:A p.(Leu98Phe) NC_000016.10:10180119:G:A p.(Leu98Phe) NC_000016.10:10180119:G:A Identity +NM_024675.4:c.2422G>T NP_078951.2:p.Gly808Ter NC_000016.10:23629731:C:A p.(Gly808Ter) NC_000016.10:23629731:C:A p.(Gly808Ter) NC_000016.10:23629731:C:A Identity +NM_001308093.3:c.935G>A NP_001295022.1:p.Arg312Gln NC_000008.11:11755067:G:A p.(Arg312Gln) NC_000008.11:11755067:G:A p.(Arg312Gln) NC_000008.11:11755067:G:A Identity +NM_032043.3:c.1489G>A NP_114432.2:p.Val497Ile NC_000017.11:61784408:C:T p.(Val497Ile) NC_000017.11:61784408:C:T p.(Val497Ile) NC_000017.11:61784408:C:T Identity +NM_006393.3:c.1208T>C NP_006384.1:p.Ile403Thr NC_000010.11:20845276:A:G p.(Ile403Thr) NC_000010.11:20845276:A:G p.(Ile403Thr) NC_000010.11:20845276:A:G Identity +NM_015512.5:c.7072A>T NP_056327.4:p.Met2358Leu NC_000003.12:52375325:A:T p.(Met2358Leu) NC_000003.12:52375325:A:T p.(Met2358Leu) NC_000003.12:52375325:A:T Identity +NM_001018115.3:c.1601A>G NP_001018125.1:p.Tyr534Cys NC_000003.12:10052441:A:G p.(Tyr534Cys) NC_000003.12:10052441:A:G p.(Tyr534Cys) NC_000003.12:10052441:A:G Identity +NM_000535.7:c.1833TAA[1] NP_000526.2:p.Asn612del NC_000007.14:5986926:TTATTA:TTA p.(Asn612del) NC_000007.14:5986931:A:TTA ERR:Parse ERR:Parse Identity +NM_001127207.2:c.1375G>A NP_001120679.1:p.Asp459Asn NC_000002.12:216432757:G:A p.(Asp459Asn) NC_000002.12:216432757:G:A p.(Asp459Asn) NC_000002.12:216432757:G:A Identity +NM_005236.3:c.2603A>G NP_005227.1:p.His868Arg NC_000016.10:13948198:A:G p.(His868Arg) NC_000016.10:13948198:A:G p.(His868Arg) NC_000016.10:13948198:A:G Identity +NM_004304.5:c.946C>A NP_004295.2:p.Pro316Thr NC_000002.12:29694855:G:T p.(Pro316Thr) NC_000002.12:29694855:G:T p.(Pro316Thr) NC_000002.12:29694855:G:T Identity +NM_004304.5:c.1924G>A NP_004295.2:p.Asp642Asn NC_000002.12:29275215:C:T p.(Asp642Asn) NC_000002.12:29275215:C:T p.(Asp642Asn) NC_000002.12:29275215:C:T Identity +NM_001106.4:c.143G>T NP_001097.2:p.Arg48Leu NC_000003.12:38477376:G:T p.(Arg48Leu) NC_000003.12:38477376:G:T p.(Arg48Leu) NC_000003.12:38477376:G:T Identity +NM_006158.5:c.743A>C NP_006149.2:p.Asp248Ala NC_000008.11:24955772:T:G p.(Asp248Ala) NC_000008.11:24955772:T:G p.(Asp248Ala) NC_000008.11:24955772:T:G Identity +NM_000334.4:c.4783G>A NP_000325.4:p.Ala1595Thr NC_000017.11:63941498:C:T p.(Ala1595Thr) NC_000017.11:63941498:C:T p.(Ala1595Thr) NC_000017.11:63941498:C:T Identity +NM_001160227.2:c.1433A>G NP_001153699.1:p.Gln478Arg NC_000015.10:44651513:T:C p.(Gln478Arg) NC_000015.10:44651513:T:C p.(Gln478Arg) NC_000015.10:44651513:T:C Identity +NM_030777.4:c.433G>A NP_110404.1:p.Val145Met NC_000020.11:46725468:G:A p.(Val145Met) NC_000020.11:46725468:G:A p.(Val145Met) NC_000020.11:46725468:G:A Identity +NM_021798.4:c.875T>C NP_068570.1:p.Val292Ala NC_000016.10:27448540:T:C p.(Val292Ala) NC_000016.10:27448540:T:C p.(Val292Ala) NC_000016.10:27448540:T:C Identity +NM_001195573.1:c.4216T>G NP_001182502.1:p.Cys1406Gly NC_000014.9:95096703:A:C p.(Cys1406Gly) NC_000014.9:95096703:A:C p.(Cys1406Gly) NC_000014.9:95096703:A:C Identity +NM_020822.3:c.211C>T NP_065873.2:p.Arg71Trp NC_000009.12:135714676:C:T p.(Arg71Trp) NC_000009.12:135714676:C:T p.(Arg71Trp) NC_000009.12:135714676:C:T Identity +NM_000038.6:c.1837C>T NP_000029.2:p.Leu613Phe NC_000005.10:112835043:C:T p.(Leu613Phe) NC_000005.10:112835043:C:T p.(Leu613Phe) NC_000005.10:112835043:C:T Identity +NM_006612.6:c.500G>A NP_006603.2:p.Arg167Gln NC_000017.11:5002533:G:A p.(Arg167Gln) NC_000017.11:5002533:G:A p.(Arg167Gln) NC_000017.11:5002533:G:A Identity +NM_000293.3:c.1730C>T NP_000284.1:p.Pro577Leu NC_000016.10:47649136:C:T p.(Pro577Leu) NC_000016.10:47649136:C:T p.(Pro577Leu) NC_000016.10:47649136:C:T Identity +NM_015180.6:c.1412A>G NP_055995.4:p.Asn471Ser NC_000014.9:63978856:A:G p.(Asn471Ser) NC_000014.9:63978856:A:G p.(Asn471Ser) NC_000014.9:63978856:A:G Identity +NM_003373.4:c.3154G>A NP_003364.1:p.Ala1052Thr NC_000010.11:74118121:G:A p.(Ala1052Thr) NC_000010.11:74118121:G:A p.(Ala1052Thr) NC_000010.11:74118121:G:A Identity +NM_001204269.2:c.217C>T NP_001191198.1:p.Arg73Ter NC_000001.11:110604565:G:A p.(Arg73Ter) NC_000001.11:110604565:G:A p.(Arg73Ter) NC_000001.11:110604565:G:A Identity +NM_003384.3:c.817G>C NP_003375.1:p.Asp273His NC_000014.9:96856236:G:C p.(Asp273His) NC_000014.9:96856236:G:C p.(Asp273His) NC_000014.9:96856236:G:C Identity +NM_001099922.3:c.2078C>T NP_001093392.1:p.Ser693Phe NC_000023.11:111727432:C:T p.(Ser693Phe) NC_000023.11:111727432:C:T p.(Ser693Phe) NC_000023.11:111727432:C:T Identity +NM_000368.5:c.2864C>A NP_000359.1:p.Thr955Asn NC_000009.12:132897294:G:T p.(Thr955Asn) NC_000009.12:132897294:G:T p.(Thr955Asn) NC_000009.12:132897294:G:T Identity +NM_001271999.2:c.3803G>A NP_001258928.1:p.Arg1268Lys NC_000001.11:62528283:C:T p.(Arg1268Lys) NC_000001.11:62528283:C:T p.(Arg1268Lys) NC_000001.11:62528283:C:T Identity +NM_001127487.2:c.1616C>T NP_001120959.1:p.Pro539Leu NC_000007.14:128840613:C:T p.(Pro539Leu) NC_000007.14:128840613:C:T p.(Pro539Leu) NC_000007.14:128840613:C:T Identity +NM_001321135.2:c.587C>T NP_001308064.1:p.Ala196Val NC_000015.10:77030525:C:T p.(Ala196Val) NC_000015.10:77030525:C:T p.(Ala196Val) NC_000015.10:77030525:C:T Identity +NM_005477.3:c.185C>T NP_005468.1:p.Ala62Val NC_000015.10:73368085:G:A p.(Ala62Val) NC_000015.10:73368085:G:A p.(Ala62Val) NC_000015.10:73368085:G:A Identity +NM_000527.5:c.1382del NP_000518.1:p.Gly461fs NC_000019.10:11113556:GG:G p.(Gly461AlafsTer46) NC_000019.10:11113556:GG:G p.(Gly461AlafsTer46) NC_000019.10:11113557:G: Analogous +NM_001353765.2:c.481G>T NP_001340694.1:p.Val161Leu NC_000002.12:29214041:C:A p.(Val161Leu) NC_000002.12:29214041:C:A p.(Val161Leu) NC_000002.12:29214041:C:A Identity +NM_001848.3:c.334G>A NP_001839.2:p.Ala112Thr NC_000021.9:45984374:G:A p.(Ala112Thr) NC_000021.9:45984374:G:A p.(Ala112Thr) NC_000021.9:45984374:G:A Identity +NM_002485.5:c.209A>G NP_002476.2:p.Asp70Gly NC_000008.11:89981485:T:C p.(Asp70Gly) NC_000008.11:89981485:T:C p.(Asp70Gly) NC_000008.11:89981485:T:C Identity +NM_000548.5:c.3505G>T NP_000539.2:p.Ala1169Ser NC_000016.10:2080271:G:T p.(Ala1169Ser) NC_000016.10:2080271:G:T p.(Ala1169Ser) NC_000016.10:2080271:G:T Identity +NM_000038.6:c.1993_1994del NP_000029.2:p.Leu665fs NC_000005.10:112837585:TTT:T p.(Leu665IlefsTer8) NC_000005.10:112837585:TTT:T p.(Leu665IlefsTer8) NC_000005.10:112837586:TT: Analogous +NM_000314.8:c.796A>T NP_000305.3:p.Lys266Ter NC_000010.11:87958013:A:T p.(Lys266Ter) NC_000010.11:87958013:A:T p.(Lys266Ter) NC_000010.11:87958013:A:T Identity +NM_001363813.1:c.959A>T NP_001350742.1:p.Asp320Val NC_000017.11:65541554:T:A p.(Asp320Val) NC_000017.11:65541554:T:A p.(Asp320Val) NC_000017.11:65541554:T:A Identity +NM_017890.5:c.9643G>C NP_060360.3:p.Val3215Leu NC_000008.11:99832605:G:C p.(Val3215Leu) NC_000008.11:99832605:G:C p.(Val3215Leu) NC_000008.11:99832605:G:C Identity +NM_001256850.1:c.101725A>G NP_001243779.1:p.Ile33909Val NC_000002.12:178529102:T:C p.(Ile33909Val) NC_000002.12:178529102:T:C p.(Ile33909Val) NC_000002.12:178529102:T:C Identity +NM_001033855.3:c.1303T>C NP_001029027.1:p.Cys435Arg NC_000010.11:14909183:A:G p.(Cys435Arg) NC_000010.11:14909183:A:G p.(Cys435Arg) NC_000010.11:14909183:A:G Identity +NM_153603.4:c.2032G>T NP_705831.1:p.Ala678Ser NC_000016.10:23392493:C:A p.(Ala678Ser) NC_000016.10:23392493:C:A p.(Ala678Ser) NC_000016.10:23392493:C:A Identity +NM_016938.5:c.236T>G NP_058634.4:p.Leu79Trp NC_000011.10:65871287:A:C p.(Leu79Trp) NC_000011.10:65871287:A:C p.(Leu79Trp) NC_000011.10:65871287:A:C Identity +NM_000368.5:c.1448C>T NP_000359.1:p.Ser483Phe NC_000009.12:132906129:G:A p.(Ser483Phe) NC_000009.12:132906129:G:A p.(Ser483Phe) NC_000009.12:132906129:G:A Identity +NM_024408.4:c.6160A>G NP_077719.2:p.Met2054Val NC_000001.11:119916561:T:C p.(Met2054Val) NC_000001.11:119916561:T:C p.(Met2054Val) NC_000001.11:119916561:T:C Identity +NM_012448.4:c.1337C>T NP_036580.2:p.Ser446Phe NC_000017.11:42217202:G:A p.(Ser446Phe) NC_000017.11:42217202:G:A p.(Ser446Phe) NC_000017.11:42217202:G:A Identity +LRG_1220t1:c.37_53del LRG_1220p1:p.Leu13fs NC_000002.12:203867975:CAGCTGAACCTGGCTACCAG:CAG ERR:Data provider error: ValueError: Transcript LRG_1220t1 not found ERR:Data provider error: ValueError: Transcript LRG_1220t1 not found ERR:AlignmentMapper(tx_ac=LRG_1220t1, alt_ac=LRG_1220t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1220t1, alt_ac=LRG_1220t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1220t1 not found +NM_002439.5:c.2414C>A NP_002430.3:p.Ala805Asp NC_000005.10:80778814:C:A p.(Ala805Asp) NC_000005.10:80778814:C:A p.(Ala805Asp) NC_000005.10:80778814:C:A Identity +NM_000445.5:c.13615G>A NP_000436.2:p.Gly4539Ser NC_000008.11:143916286:C:T p.(Gly4539Ser) NC_000008.11:143916286:C:T p.(Gly4539Ser) NC_000008.11:143916286:C:T Identity +NM_020919.4:c.4415C>T NP_065970.2:p.Thr1472Met NC_000002.12:201707010:G:A p.(Thr1472Met) NC_000002.12:201707010:G:A p.(Thr1472Met) NC_000002.12:201707010:G:A Identity +NM_000378.6:c.671C>T NP_000369.4:p.Thr224Met NC_000011.10:32428609:G:A p.(Thr224Met) NC_000011.10:32428609:G:A p.(Thr224Met) NC_000011.10:32428609:G:A Identity +NM_000051.4:c.2992G>A NP_000042.3:p.Val998Met NC_000011.10:108271320:G:A p.(Val998Met) NC_000011.10:108271320:G:A p.(Val998Met) NC_000011.10:108271320:G:A Identity +NM_001256714.1:c.947A>C NP_001243643.1:p.Tyr316Ser NC_000019.10:55161338:T:G p.(Tyr316Ser) NC_000019.10:55161338:T:G p.(Tyr316Ser) NC_000019.10:55161338:T:G Identity +NM_172250.3:c.989G>A NP_758454.1:p.Arg330Gln NC_000004.12:145655165:G:A p.(Arg330Gln) NC_000004.12:145655165:G:A p.(Arg330Gln) NC_000004.12:145655165:G:A Identity +NM_001243571.2:c.905T>C NP_001230500.1:p.Ile302Thr NC_000011.10:95847771:A:G p.(Ile302Thr) NC_000011.10:95847771:A:G p.(Ile302Thr) NC_000011.10:95847771:A:G Identity +NM_000052.7:c.112C>T NP_000043.4:p.His38Tyr NC_000023.11:77971752:C:T p.(His38Tyr) NC_000023.11:77971752:C:T p.(His38Tyr) NC_000023.11:77971752:C:T Identity +NM_000538.4:c.503A>G NP_000529.1:p.Lys168Arg NC_000013.11:36819859:A:G p.(Lys168Arg) NC_000013.11:36819859:A:G p.(Lys168Arg) NC_000013.11:36819859:A:G Identity +NM_000038.6:c.6766C>G NP_000029.2:p.Pro2256Ala NC_000005.10:112842359:C:G p.(Pro2256Ala) NC_000005.10:112842359:C:G p.(Pro2256Ala) NC_000005.10:112842359:C:G Identity +NM_002439.5:c.2075A>G NP_002430.3:p.Gln692Arg NC_000005.10:80768110:A:G p.(Gln692Arg) NC_000005.10:80768110:A:G p.(Gln692Arg) NC_000005.10:80768110:A:G Identity +NM_001178129.2:c.142A>C NP_001171600.1:p.Lys48Gln NC_000007.14:83469256:T:G p.(Lys48Gln) NC_000007.14:83469256:T:G p.(Lys48Gln) NC_000007.14:83469256:T:G Identity +NM_001190720.3:c.161G>A NP_001177649.2:p.Arg54Gln NC_000008.11:42293476:G:A p.(Arg54Gln) NC_000008.11:42293476:G:A p.(Arg54Gln) NC_000008.11:42293476:G:A Identity +NM_001318900.1:c.782C>T NP_001305829.1:p.Pro261Leu NC_000010.11:87060703:G:A p.(Pro261Leu) NC_000010.11:87060703:G:A p.(Pro261Leu) NC_000010.11:87060703:G:A Identity +NM_002439.5:c.2917A>G NP_002430.3:p.Ile973Val NC_000005.10:80854232:A:G p.(Ile973Val) NC_000005.10:80854232:A:G p.(Ile973Val) NC_000005.10:80854232:A:G Identity +NM_017890.5:c.7547T>G NP_060360.3:p.Met2516Arg NC_000008.11:99778723:T:G p.(Met2516Arg) NC_000008.11:99778723:T:G p.(Met2516Arg) NC_000008.11:99778723:T:G Identity +NM_181882.3:c.3418G>A NP_870998.2:p.Asp1140Asn NC_000019.10:40394933:C:T p.(Asp1140Asn) NC_000019.10:40394933:C:T p.(Asp1140Asn) NC_000019.10:40394933:C:T Identity +NM_001040108.2:c.3235A>G NP_001035197.1:p.Thr1079Ala NC_000014.9:75046420:T:C p.(Thr1079Ala) NC_000014.9:75046420:T:C p.(Thr1079Ala) NC_000014.9:75046420:T:C Identity +NM_006612.6:c.3098C>T NP_006603.2:p.Ser1033Phe NC_000017.11:5023936:C:T p.(Ser1033Phe) NC_000017.11:5023936:C:T p.(Ser1033Phe) NC_000017.11:5023936:C:T Identity +NM_000264.5:c.326T>C NP_000255.2:p.Phe109Ser NC_000009.12:95506474:A:G p.(Phe109Ser) NC_000009.12:95506474:A:G p.(Phe109Ser) NC_000009.12:95506474:A:G Identity +NM_001007792.1:c.1246C>G NP_001007793.1:p.Arg416Gly NC_000001.11:156875007:C:G p.(Arg416Gly) NC_000001.11:156875007:C:G p.(Arg416Gly) NC_000001.11:156875007:C:G Identity +NM_000455.5:c.347T>C NP_000446.1:p.Val116Ala NC_000019.10:1218472:T:C p.(Val116Ala) NC_000019.10:1218472:T:C p.(Val116Ala) NC_000019.10:1218472:T:C Identity +NM_001365999.1:c.3985G>A NP_001352928.1:p.Ala1329Thr NC_000001.11:43428304:G:A p.(Ala1329Thr) NC_000001.11:43428304:G:A p.(Ala1329Thr) NC_000001.11:43428304:G:A Identity +NM_001352773.2:c.926A>T NP_001339702.1:p.Asn309Ile NC_000017.11:41765050:T:A p.(Asn309Ile) NC_000017.11:41765050:T:A p.(Asn309Ile) NC_000017.11:41765050:T:A Identity +NM_000109.4:c.270_282del NP_000100.3:p.Asp90fs NC_000023.11:32823345:TCCATCTACGATGTC:TC p.(Asp90GlufsTer5) NC_000023.11:32823345:TCCATCTACGATGTC:TC p.(Asp90GlufsTer5) NC_000023.11:32823345:TCCATCTACGATG: Analogous +LRG_1332t1:c.2504A>T LRG_1332p1:p.Asp835Val NC_000016.10:69692328:A:T ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1332t1, alt_ac=LRG_1332t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1332t1 not found +NM_001256850.1:c.40891del NP_001243779.1:p.Asp13631fs NC_000002.12:178620795:C: p.(Asp13631MetfsTer10) NC_000002.12:178620795:C: p.(Asp13631MetfsTer10) NC_000002.12:178620795:C: Analogous +NM_002439.5:c.824A>G NP_002430.3:p.His275Arg NC_000005.10:80672274:A:G p.(His275Arg) NC_000005.10:80672274:A:G p.(His275Arg) NC_000005.10:80672274:A:G Identity +NM_001386339.1:c.5066C>T NP_001373268.1:p.Pro1689Leu NC_000011.10:9787700:G:A p.(Pro1689Leu) NC_000011.10:9787700:G:A p.(Pro1689Leu) NC_000011.10:9787700:G:A Identity +NM_020361.5:c.163del NP_065094.3:p.Ala55fs NC_000008.11:67624204:C: p.(Ala55HisfsTer2) NC_000008.11:67624204:C: p.(Ala55HisfsTer2) NC_000008.11:67624204:C: Analogous +NM_003482.4:c.10706_10707dup NP_003473.3:p.Gln3570fs NC_000012.12:49034099:CTCT:CTCTCT p.(Gln3570SerfsTer89) NC_000012.12:49034099:CTCT:CTCTCT p.(Gln3570SerfsTer89) ERR:SPDI Analogous +NM_015512.5:c.10306G>C NP_056327.4:p.Glu3436Gln NC_000003.12:52392856:G:C p.(Glu3436Gln) NC_000003.12:52392856:G:C p.(Glu3436Gln) NC_000003.12:52392856:G:C Identity +NM_001377273.1:c.23A>G NP_001364202.1:p.Asn8Ser NC_000012.12:21936651:T:C p.(Asn8Ser) NC_000012.12:21936651:T:C p.(Asn8Ser) NC_000012.12:21936651:T:C Identity +NM_001409301.1:c.29G>A NP_001396230.1:p.Arg10Lys NC_000005.10:177135131:G:A p.(Arg10Lys) NC_000005.10:177135131:G:A p.(Arg10Lys) NC_000005.10:177135131:G:A Identity +LRG_1218t1:c.316G>A LRG_1218p1:p.Val106Met NC_000019.10:11576788:C:T ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found ERR:AlignmentMapper(tx_ac=LRG_1218t1, alt_ac=LRG_1218t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1218t1, alt_ac=LRG_1218t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1218t1 not found +NM_000264.5:c.3463G>T NP_000255.2:p.Val1155Leu NC_000009.12:95449926:C:A p.(Val1155Leu) NC_000009.12:95449926:C:A p.(Val1155Leu) NC_000009.12:95449926:C:A Identity +NM_000222.3:c.1526A>T NP_000213.1:p.Lys509Ile NC_000004.12:54726035:A:T p.(Lys509Ile) NC_000004.12:54726035:A:T p.(Lys509Ile) NC_000004.12:54726035:A:T Identity +NM_001005336.3:c.1786G>A NP_001005336.1:p.Val596Ile NC_000009.12:128247378:G:A p.(Val596Ile) NC_000009.12:128247378:G:A p.(Val596Ile) NC_000009.12:128247378:G:A Identity +NM_001145661.2:c.971del NP_001139133.1:p.Lys324fs NC_000003.12:128483905:TT:T p.(Lys324ArgfsTer2) NC_000003.12:128483905:TT:T p.(Lys324ArgfsTer2) NC_000003.12:128483905:T: Analogous +NM_000391.4:c.694G>A NP_000382.3:p.Glu232Lys NC_000011.10:6616852:C:T p.(Glu232Lys) NC_000011.10:6616852:C:T p.(Glu232Lys) NC_000011.10:6616852:C:T Identity +NM_015512.5:c.5493G>T NP_056327.4:p.Arg1831Ser NC_000003.12:52364993:G:T p.(Arg1831Ser) NC_000003.12:52364993:G:T p.(Arg1831Ser) NC_000003.12:52364993:G:T Identity +NM_000302.4:c.674A>G NP_000293.2:p.His225Arg NC_000001.11:11956946:A:G p.(His225Arg) NC_000001.11:11956946:A:G p.(His225Arg) NC_000001.11:11956946:A:G Identity +NM_001165963.4:c.2729A>T NP_001159435.1:p.Gln910Leu NC_000002.12:166037992:T:A p.(Gln910Leu) NC_000002.12:166037992:T:A p.(Gln910Leu) NC_000002.12:166037992:T:A Identity +NM_001849.4:c.2698G>A NP_001840.3:p.Ala900Thr NC_000021.9:46132189:G:A p.(Ala900Thr) NC_000021.9:46132189:G:A p.(Ala900Thr) NC_000021.9:46132189:G:A Identity +NM_000165.5:c.365A>G NP_000156.1:p.Asn122Ser NC_000006.12:121447211:A:G p.(Asn122Ser) NC_000006.12:121447211:A:G p.(Asn122Ser) NC_000006.12:121447211:A:G Identity +NM_001018115.3:c.704T>C NP_001018125.1:p.Leu235Pro NC_000003.12:10041630:T:C p.(Leu235Pro) NC_000003.12:10041630:T:C p.(Leu235Pro) NC_000003.12:10041630:T:C Identity +LRG_533t1:c.829G>C LRG_533p1:p.Ala277Pro NC_000011.10:2884125:C:G ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:Data provider error: ValueError: Transcript LRG_533t1 not found ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_533t1, alt_ac=LRG_533t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_533t1 not found +NM_000138.5:c.8259del NP_000129.3:p.Ala2754fs NC_000015.10:48411346:AA:A p.(Ala2754GlnfsTer25) NC_000015.10:48411346:AA:A p.(Ala2754GlnfsTer25) NC_000015.10:48411346:A: Analogous +NM_002439.5:c.266G>A NP_002430.3:p.Arg89Lys NC_000005.10:80656438:G:A p.(Arg89Lys) NC_000005.10:80656438:G:A p.(Arg89Lys) NC_000005.10:80656438:G:A Identity +NM_006612.6:c.2429A>C NP_006603.2:p.Glu810Ala NC_000017.11:5022509:A:C p.(Glu810Ala) NC_000017.11:5022509:A:C p.(Glu810Ala) NC_000017.11:5022509:A:C Identity +NM_000038.6:c.6265G>A NP_000029.2:p.Glu2089Lys NC_000005.10:112841858:G:A p.(Glu2089Lys) NC_000005.10:112841858:G:A p.(Glu2089Lys) NC_000005.10:112841858:G:A Identity +NM_001256849.1:c.1978C>A NP_001243778.1:p.Leu660Met NC_000019.10:50409206:C:A p.(Leu660Met) NC_000019.10:50409206:C:A p.(Leu660Met) NC_000019.10:50409206:C:A Identity +NM_004304.5:c.1729C>G NP_004295.2:p.Gln577Glu NC_000002.12:29296975:G:C p.(Gln577Glu) NC_000002.12:29296975:G:C p.(Gln577Glu) NC_000002.12:29296975:G:C Identity +NM_001286075.2:c.1435C>T NP_001273004.1:p.Arg479Cys NC_000016.10:28900625:C:T p.(Arg479Cys) NC_000016.10:28900625:C:T p.(Arg479Cys) NC_000016.10:28900625:C:T Identity +NM_001393363.1:c.643C>T NP_001380292.1:p.Arg215Trp NC_000003.12:33124428:C:T p.(Arg215Trp) NC_000003.12:33124428:C:T p.(Arg215Trp) NC_000003.12:33124428:C:T Identity +NM_000368.5:c.1546C>T NP_000359.1:p.Gln516Ter NC_000009.12:132906031:G:A p.(Gln516Ter) NC_000009.12:132906031:G:A p.(Gln516Ter) NC_000009.12:132906031:G:A Identity +NM_000090.4:c.1336C>T NP_000081.2:p.Arg446Cys NC_000002.12:188994582:C:T p.(Arg446Cys) NC_000002.12:188994582:C:T p.(Arg446Cys) NC_000002.12:188994582:C:T Identity +NM_001279353.2:c.470T>C NP_001266282.1:p.Val157Ala NC_000001.11:150081438:T:C p.(Val157Ala) NC_000001.11:150081438:T:C p.(Val157Ala) NC_000001.11:150081438:T:C Identity +NM_004104.5:c.1045G>A NP_004095.4:p.Glu349Lys NC_000017.11:82091668:C:T p.(Glu349Lys) NC_000017.11:82091668:C:T p.(Glu349Lys) NC_000017.11:82091668:C:T Identity +NM_001199107.2:c.226G>A NP_001186036.1:p.Asp76Asn NC_000016.10:2496373:G:A p.(Asp76Asn) NC_000016.10:2496373:G:A p.(Asp76Asn) NC_000016.10:2496373:G:A Identity +NM_000540.3:c.4489G>A NP_000531.2:p.Gly1497Arg NC_000019.10:38478468:G:A p.(Gly1497Arg) NC_000019.10:38478468:G:A p.(Gly1497Arg) NC_000019.10:38478468:G:A Identity +NM_004655.4:c.1814C>A NP_004646.3:p.Ala605Asp NC_000017.11:65536961:G:T p.(Ala605Asp) NC_000017.11:65536961:G:T p.(Ala605Asp) NC_000017.11:65536961:G:T Identity +NM_001130986.2:c.1766C>T NP_001124458.1:p.Thr589Ile NC_000002.12:71553062:C:T p.(Thr589Ile) NC_000002.12:71553062:C:T p.(Thr589Ile) NC_000002.12:71553062:C:T Identity +NM_001303256.3:c.1650C>G NP_001290185.1:p.Phe550Leu NC_000022.11:30936597:G:C p.(Phe550Leu) NC_000022.11:30936597:G:C p.(Phe550Leu) NC_000022.11:30936597:G:C Identity +NM_001321309.2:c.4039C>A NP_001308238.1:p.Gln1347Lys NC_000003.12:123647275:G:T p.(Gln1347Lys) NC_000003.12:123647275:G:T p.(Gln1347Lys) NC_000003.12:123647275:G:T Identity +NM_015180.6:c.15527A>T NP_055995.4:p.Glu5176Val NC_000014.9:64146110:A:T p.(Glu5176Val) NC_000014.9:64146110:A:T p.(Glu5176Val) NC_000014.9:64146110:A:T Identity +NM_000257.4:c.253G>A NP_000248.2:p.Asp85Asn NC_000014.9:23433175:C:T p.(Asp85Asn) NC_000014.9:23433175:C:T p.(Asp85Asn) NC_000014.9:23433175:C:T Identity +NM_001407953.1:c.2576A>G NP_001394882.1:p.Lys859Arg NC_000017.11:43092621:T:C p.(Lys859Arg) NC_000017.11:43092621:T:C p.(Lys859Arg) NC_000017.11:43092621:T:C Identity +NM_006231.4:c.4615G>A NP_006222.2:p.Glu1539Lys NC_000012.12:132642932:C:T p.(Glu1539Lys) NC_000012.12:132642932:C:T p.(Glu1539Lys) NC_000012.12:132642932:C:T Identity +NM_000143.4:c.1434T>A NP_000134.2:p.Asn478Lys NC_000001.11:241497926:A:T p.(Asn478Lys) NC_000001.11:241497926:A:T p.(Asn478Lys) NC_000001.11:241497926:A:T Identity +NM_024675.4:c.1295A>G NP_078951.2:p.His432Arg NC_000016.10:23635250:T:C p.(His432Arg) NC_000016.10:23635250:T:C p.(His432Arg) NC_000016.10:23635250:T:C Identity +NM_000179.3:c.4070_*5del NP_000170.1:p.Ile1357fs NC_000002.12:47806843:TGATTAAGGAATTATAGACTGA:TGA p.(Ile1357ThrfsTer8) NC_000002.12:47806843:TGATTAAGGAATTATAGACTGA:TGA p.(Ile1357ThrfsTer8) NC_000002.12:47806846:TTAAGGAATTATAGACTGA: Analogous +NM_001190458.2:c.3142G>A NP_001177387.1:p.Asp1048Asn NC_000009.12:406980:G:A p.(Asp1048Asn) NC_000009.12:406980:G:A p.(Asp1048Asn) NC_000009.12:406980:G:A Identity +NM_000302.4:c.2099A>G NP_000293.2:p.His700Arg NC_000001.11:11974722:A:G p.(His700Arg) NC_000001.11:11974722:A:G p.(His700Arg) NC_000001.11:11974722:A:G Identity +NM_000535.7:c.718A>T NP_000526.2:p.Ile240Phe NC_000007.14:5997410:T:A p.(Ile240Phe) NC_000007.14:5997410:T:A p.(Ile240Phe) NC_000007.14:5997410:T:A Identity +NM_000016.6:c.397ATT[2] NP_000007.1:p.Ile135del NC_000001.11:75734798:TATTATTATT:TATTATT p.(Ile135del) NC_000001.11:75734799:A:ATTATT ERR:Parse ERR:Parse Identity +NM_021942.6:c.2306T>C NP_068761.4:p.Met769Thr NC_000004.12:183693656:T:C p.(Met769Thr) NC_000004.12:183693656:T:C p.(Met769Thr) NC_000004.12:183693656:T:C Identity +NM_001099679.2:c.377C>T NP_001093149.1:p.Ala126Val NC_000009.12:116698118:C:T p.(Ala126Val) NC_000009.12:116698118:C:T p.(Ala126Val) NC_000009.12:116698118:C:T Identity +NM_000445.5:c.12866T>C NP_000436.2:p.Val4289Ala NC_000008.11:143917035:A:G p.(Val4289Ala) NC_000008.11:143917035:A:G p.(Val4289Ala) NC_000008.11:143917035:A:G Identity +NM_024529.5:c.1249A>C NP_078805.3:p.Thr417Pro NC_000001.11:193233086:A:C p.(Thr417Pro) NC_000001.11:193233086:A:C p.(Thr417Pro) NC_000001.11:193233086:A:C Identity +NM_001130455.2:c.2054G>A NP_001123927.1:p.Arg685Gln NC_000002.12:71553926:G:A p.(Arg685Gln) NC_000002.12:71553926:G:A p.(Arg685Gln) NC_000002.12:71553926:G:A Identity +NM_001128610.3:c.1531G>C NP_001122082.1:p.Glu511Gln NC_000015.10:50481792:G:C p.(Glu511Gln) NC_000015.10:50481792:G:C p.(Glu511Gln) NC_000015.10:50481792:G:C Identity +NM_001018037.2:c.4381dup NP_001018047.1:p.Ala1461fs NC_000009.12:77315337:G:GG p.(Ala1461GlyfsTer24) NC_000009.12:77315337:G:GG p.(Ala1461GlyfsTer24) ERR:SPDI Analogous +NM_001385678.1:c.655G>A NP_001372607.1:p.Asp219Asn NC_000019.10:4817680:C:T p.(Asp219Asn) NC_000019.10:4817680:C:T p.(Asp219Asn) NC_000019.10:4817680:C:T Identity +NM_000751.3:c.128G>A NP_000742.1:p.Arg43Gln NC_000002.12:232526603:G:A p.(Arg43Gln) NC_000002.12:232526603:G:A p.(Arg43Gln) NC_000002.12:232526603:G:A Identity +NM_001999.4:c.230G>T NP_001990.2:p.Arg77Leu NC_000005.10:128537373:C:A p.(Arg77Leu) NC_000005.10:128537373:C:A p.(Arg77Leu) NC_000005.10:128537373:C:A Identity +NM_000118.4:c.1274C>A NP_000109.1:p.Ala425Glu NC_000009.12:127819658:G:T p.(Ala425Glu) NC_000009.12:127819658:G:T p.(Ala425Glu) NC_000009.12:127819658:G:T Identity +LRG_1203t1:c.2380G>A LRG_1203p1:p.Asp794Asn NC_000002.12:9490271:C:T ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found ERR:AlignmentMapper(tx_ac=LRG_1203t1, alt_ac=LRG_1203t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1203t1, alt_ac=LRG_1203t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found +NM_000245.4:c.724A>G NP_000236.2:p.Arg242Gly NC_000007.14:116699807:A:G p.(Arg242Gly) NC_000007.14:116699807:A:G p.(Arg242Gly) NC_000007.14:116699807:A:G Identity +NM_001110792.2:c.107A>G NP_001104262.1:p.Lys36Arg NC_000023.11:154032512:T:C p.(Lys36Arg) NC_000023.11:154032512:T:C p.(Lys36Arg) NC_000023.11:154032512:T:C Identity +NM_000334.4:c.4705G>A NP_000325.4:p.Gly1569Ser NC_000017.11:63941576:C:T p.(Gly1569Ser) NC_000017.11:63941576:C:T p.(Gly1569Ser) NC_000017.11:63941576:C:T Identity +NM_001099922.3:c.1895C>G NP_001093392.1:p.Thr632Arg NC_000023.11:111726973:C:G p.(Thr632Arg) NC_000023.11:111726973:C:G p.(Thr632Arg) NC_000023.11:111726973:C:G Identity +NM_000156.6:c.220G>A NP_000147.1:p.Ala74Thr NC_000019.10:1399899:C:T p.(Ala74Thr) NC_000019.10:1399899:C:T p.(Ala74Thr) NC_000019.10:1399899:C:T Identity +NM_025099.6:c.3301C>A NP_079375.3:p.Pro1101Thr NC_000017.11:8228812:G:T p.(Pro1101Thr) NC_000017.11:8228812:G:T p.(Pro1101Thr) NC_000017.11:8228812:G:T Identity +NM_000081.4:c.2438G>A NP_000072.2:p.Arg813Gln NC_000001.11:235806697:C:T p.(Arg813Gln) NC_000001.11:235806697:C:T p.(Arg813Gln) NC_000001.11:235806697:C:T Identity +NM_005677.4:c.61G>A NP_005668.2:p.Val21Met NC_000003.12:15521564:C:T p.(Val21Met) NC_000003.12:15521564:C:T p.(Val21Met) NC_000003.12:15521564:C:T Identity +NM_004370.6:c.3592G>A NP_004361.3:p.Ala1198Thr NC_000006.12:75152455:C:T p.(Ala1198Thr) NC_000006.12:75152455:C:T p.(Ala1198Thr) NC_000006.12:75152455:C:T Identity +NM_001353765.2:c.1333G>C NP_001340694.1:p.Glu445Gln NC_000002.12:29193549:C:G p.(Glu445Gln) NC_000002.12:29193549:C:G p.(Glu445Gln) NC_000002.12:29193549:C:G Identity +NM_006158.5:c.1528G>A NP_006149.2:p.Glu510Lys NC_000008.11:24952913:C:T p.(Glu510Lys) NC_000008.11:24952913:C:T p.(Glu510Lys) NC_000008.11:24952913:C:T Identity +NM_003036.4:c.493G>A NP_003027.1:p.Gly165Ser NC_000001.11:2229258:G:A p.(Gly165Ser) NC_000001.11:2229258:G:A p.(Gly165Ser) NC_000001.11:2229258:G:A Identity +NM_000257.4:c.1580C>T NP_000248.2:p.Pro527Leu NC_000014.9:23427892:G:A p.(Pro527Leu) NC_000014.9:23427892:G:A p.(Pro527Leu) NC_000014.9:23427892:G:A Identity +NM_001204269.2:c.282_283del NP_001191198.1:p.Gly96fs NC_000001.11:110604499:CT: p.(Gly96ProfsTer15) NC_000001.11:110604499:CT: p.(Gly96ProfsTer15) NC_000001.11:110604499:CT: Analogous +NM_000135.4:c.4244T>G NP_000126.2:p.Phe1415Cys NC_000016.10:89738897:A:C p.(Phe1415Cys) NC_000016.10:89738897:A:C p.(Phe1415Cys) NC_000016.10:89738897:A:C Identity +NM_001145265.2:c.715C>G NP_001138737.1:p.Leu239Val NC_000011.10:45810993:C:G p.(Leu239Val) NC_000011.10:45810993:C:G p.(Leu239Val) NC_000011.10:45810993:C:G Identity +NM_000020.3:c.655G>C NP_000011.2:p.Gly219Arg NC_000012.12:51914467:G:C p.(Gly219Arg) NC_000012.12:51914467:G:C p.(Gly219Arg) NC_000012.12:51914467:G:C Identity +NM_000628.5:c.332C>G NP_000619.3:p.Thr111Ser NC_000021.9:33279751:C:G p.(Thr111Ser) NC_000021.9:33279751:C:G p.(Thr111Ser) NC_000021.9:33279751:C:G Identity +NM_001290307.3:c.38G>T NP_001277236.1:p.Trp13Leu NC_000005.10:138781961:G:T p.(Trp13Leu) NC_000005.10:138781961:G:T p.(Trp13Leu) NC_000005.10:138781961:G:T Identity +NM_000059.4:c.9221T>G NP_000050.3:p.Leu3074Arg NC_000013.11:32380109:T:G p.(Leu3074Arg) NC_000013.11:32380109:T:G p.(Leu3074Arg) NC_000013.11:32380109:T:G Identity +NM_017980.5:c.44G>A NP_060450.2:p.Arg15Gln NC_000002.12:127664344:C:T p.(Arg15Gln) NC_000002.12:127664344:C:T p.(Arg15Gln) NC_000002.12:127664344:C:T Identity +NM_017570.5:c.1972C>T NP_060040.1:p.Arg658Trp NC_000008.11:144056395:G:A p.(Arg658Trp) NC_000008.11:144056395:G:A p.(Arg658Trp) NC_000008.11:144056395:G:A Identity +NM_002439.5:c.1922T>C NP_002430.3:p.Ile641Thr NC_000005.10:80767957:T:C p.(Ile641Thr) NC_000005.10:80767957:T:C p.(Ile641Thr) NC_000005.10:80767957:T:C Identity +NM_001376.5:c.12047C>G NP_001367.2:p.Ser4016Cys NC_000014.9:102041678:C:G p.(Ser4016Cys) NC_000014.9:102041678:C:G p.(Ser4016Cys) NC_000014.9:102041678:C:G Identity +LRG_492t1:c.484G>T LRG_492p1:p.Gly162Cys NC_000014.9:95130146:C:A ERR:Data provider error: ValueError: Transcript LRG_492t1 not found ERR:Data provider error: ValueError: Transcript LRG_492t1 not found ERR:AlignmentMapper(tx_ac=LRG_492t1, alt_ac=LRG_492t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_492t1, alt_ac=LRG_492t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_492t1 not found +NM_001159508.3:c.153G>A NP_001152980.2:p.Trp51Ter NC_000015.10:40407946:G:A p.(Trp51Ter) NC_000015.10:40407946:G:A p.(Trp51Ter) NC_000015.10:40407946:G:A Identity +NM_001007468.3:c.235G>T NP_001007469.1:p.Val79Leu NC_000022.11:23793587:G:T p.(Val79Leu) NC_000022.11:23793587:G:T p.(Val79Leu) NC_000022.11:23793587:G:T Identity +NM_001347827.2:c.1352A>C NP_001334756.1:p.Lys451Thr NC_000004.12:54272507:A:C p.(Lys451Thr) NC_000004.12:54272507:A:C p.(Lys451Thr) NC_000004.12:54272507:A:C Identity +NM_000028.3:c.1421C>G NP_000019.2:p.Pro474Arg NC_000001.11:99876594:C:G p.(Pro474Arg) NC_000001.11:99876594:C:G p.(Pro474Arg) NC_000001.11:99876594:C:G Identity +NM_003482.4:c.12626C>T NP_003473.3:p.Pro4209Leu NC_000012.12:49032078:G:A p.(Pro4209Leu) NC_000012.12:49032078:G:A p.(Pro4209Leu) NC_000012.12:49032078:G:A Identity +NM_032444.4:c.1824G>T NP_115820.2:p.Glu608Asp NC_000016.10:3596252:C:A p.(Glu608Asp) NC_000016.10:3596252:C:A p.(Glu608Asp) NC_000016.10:3596252:C:A Identity +NM_001043351.2:c.554A>T NP_001036816.1:p.Tyr185Phe NC_000001.11:154170688:T:A p.(Tyr185Phe) NC_000001.11:154170688:T:A p.(Tyr185Phe) NC_000001.11:154170688:T:A Identity +NM_001293273.2:c.952G>A NP_001280202.1:p.Ala318Thr NC_000003.12:183039099:C:T p.(Ala318Thr) NC_000003.12:183039099:C:T p.(Ala318Thr) NC_000003.12:183039099:C:T Identity +NM_000136.3:c.507del NP_000127.2:p.Phe169fs NC_000009.12:95171092:AAA:AA p.(Phe169LeufsTer25) NC_000009.12:95171092:AAA:AA p.(Phe169LeufsTer25) NC_000009.12:95171092:A: Analogous +NM_002439.5:c.2441T>G NP_002430.3:p.Phe814Cys NC_000005.10:80787569:T:G p.(Phe814Cys) NC_000005.10:80787569:T:G p.(Phe814Cys) NC_000005.10:80787569:T:G Identity +NM_006231.4:c.3626C>T NP_006222.2:p.Ala1209Val NC_000012.12:132649845:G:A p.(Ala1209Val) NC_000012.12:132649845:G:A p.(Ala1209Val) NC_000012.12:132649845:G:A Identity +NM_002878.4:c.243_244insGG NP_002869.3:p.Leu82fs NC_000017.11:35118520::CC p.(Leu82GlyfsTer22) NC_000017.11:35118519:G:CC p.(Leu82GlyfsTer22) NC_000017.11:35118520:GG:CC Analogous +NM_014141.6:c.2114C>T NP_054860.1:p.Thr705Ile NC_000007.14:147903579:C:T p.(Thr705Ile) NC_000007.14:147903579:C:T p.(Thr705Ile) NC_000007.14:147903579:C:T Identity +NM_001172509.2:c.638A>G NP_001165980.1:p.Asn213Ser NC_000002.12:199368666:T:C p.(Asn213Ser) NC_000002.12:199368666:T:C p.(Asn213Ser) NC_000002.12:199368666:T:C Identity +NM_000033.4:c.386C>A NP_000024.2:p.Ala129Asp NC_000023.11:153725651:C:A p.(Ala129Asp) NC_000023.11:153725651:C:A p.(Ala129Asp) NC_000023.11:153725651:C:A Identity +NM_000143.4:c.844G>C NP_000134.2:p.Gly282Arg NC_000001.11:241506062:C:G p.(Gly282Arg) NC_000001.11:241506062:C:G p.(Gly282Arg) NC_000001.11:241506062:C:G Identity +NM_001282225.2:c.377G>A NP_001269154.1:p.Arg126Lys NC_000022.11:17207235:C:T p.(Arg126Lys) NC_000022.11:17207235:C:T p.(Arg126Lys) NC_000022.11:17207235:C:T Identity +NM_003924.4:c.479C>G NP_003915.2:p.Ala160Gly NC_000004.12:41746272:G:C p.(Ala160Gly) NC_000004.12:41746272:G:C p.(Ala160Gly) NC_000004.12:41746272:G:C Identity +NM_000051.4:c.2534del NP_000042.3:p.Asn845fs NC_000011.10:108267235:AAA:AA p.(Asn845IlefsTer2) NC_000011.10:108267235:AAA:AA p.(Asn845IlefsTer2) NC_000011.10:108267237:A: Analogous +NM_000051.4:c.2819A>C NP_000042.3:p.Lys940Thr NC_000011.10:108268589:A:C p.(Lys940Thr) NC_000011.10:108268589:A:C p.(Lys940Thr) NC_000011.10:108268589:A:C Identity +NM_015180.6:c.20524C>T NP_055995.4:p.Leu6842Phe NC_000014.9:64225391:C:T p.(Leu6842Phe) NC_000014.9:64225391:C:T p.(Leu6842Phe) NC_000014.9:64225391:C:T Identity +NM_000426.4:c.1756_1757delinsCT NP_000417.3:p.Ala586Leu NC_000006.12:129192826:GC:CT p.(Ala586Leu) NC_000006.12:129192826:GC:CT p.(Ala586Leu) NC_000006.12:129192826:GC:CT Identity +NM_001256545.2:c.916C>T NP_001243474.1:p.Arg306Trp NC_000005.10:127402680:C:T p.(Arg306Trp) NC_000005.10:127402680:C:T p.(Arg306Trp) NC_000005.10:127402680:C:T Identity +NM_015450.3:c.188G>C NP_056265.2:p.Ser63Thr NC_000007.14:124870977:C:G p.(Ser63Thr) NC_000007.14:124870977:C:G p.(Ser63Thr) NC_000007.14:124870977:C:G Identity +NM_001164716.1:c.1297A>T NP_001158188.1:p.Lys433Ter NC_000011.10:64752461:T:A p.(Lys433Ter) NC_000011.10:64752461:T:A p.(Lys433Ter) NC_000011.10:64752461:T:A Identity +NM_000256.3:c.440del NP_000247.2:p.Pro147fs NC_000011.10:47350078:GGGG:GGG p.(Pro147LeufsTer12) NC_000011.10:47350078:GGGG:GGG p.(Pro147LeufsTer12) NC_000011.10:47350078:G: Analogous +NM_001243776.2:c.674T>G NP_001230705.1:p.Leu225Trp NC_000011.10:95821871:T:G p.(Leu225Trp) NC_000011.10:95821871:T:G p.(Leu225Trp) NC_000011.10:95821871:T:G Identity +NM_016938.5:c.1174del NP_058634.4:p.Ile392fs NC_000011.10:65867075:TTT:TT p.(Ile392SerfsTer14) NC_000011.10:65867075:TTT:TT p.(Ile392SerfsTer14) NC_000011.10:65867075:T: Analogous +NM_000465.4:c.313A>C NP_000456.2:p.Ile105Leu NC_000002.12:214792347:T:G p.(Ile105Leu) NC_000002.12:214792347:T:G p.(Ile105Leu) NC_000002.12:214792347:T:G Identity +NM_001206927.2:c.8792C>G NP_001193856.1:p.Thr2931Ser NC_000006.12:38896076:C:G p.(Thr2931Ser) NC_000006.12:38896076:C:G p.(Thr2931Ser) NC_000006.12:38896076:C:G Identity +NM_000551.4:c.590A>C NP_000542.1:p.Asp197Ala NC_000003.12:10149912:A:C p.(Asp197Ala) NC_000003.12:10149912:A:C p.(Asp197Ala) NC_000003.12:10149912:A:C Identity +NM_005732.4:c.3775_3788del NP_005723.2:p.Gln1259fs NC_000005.10:132642199:CAGCGTAACTTCCA: p.(Gln1259AlafsTer7) NC_000005.10:132642199:CAGCGTAACTTCCA: p.(Gln1259AlafsTer7) NC_000005.10:132642199:CAGCGTAACTTCCA: Analogous +LRG_402t1:c.14224C>T LRG_402p1:p.His4742Tyr NC_000001.11:237806208:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001128844.3:c.129G>A NP_001122316.1:p.Met43Ile NC_000019.10:10984279:G:A p.(Met43Ile) NC_000019.10:10984279:G:A p.(Met43Ile) NC_000019.10:10984279:G:A Identity +NM_001122606.1:c.1015G>C NP_001116078.1:p.Val339Leu NC_000023.11:120441807:C:G p.(Val339Leu) NC_000023.11:120441807:C:G p.(Val339Leu) NC_000023.11:120441807:C:G Identity +NM_001814.6:c.953A>G NP_001805.4:p.Glu318Gly NC_000011.10:88294444:T:C p.(Glu318Gly) NC_000011.10:88294444:T:C p.(Glu318Gly) NC_000011.10:88294444:T:C Identity +NM_001144769.5:c.2201C>T NP_001138241.1:p.Thr734Ile NC_000006.12:56640332:G:A p.(Thr734Ile) NC_000006.12:56640332:G:A p.(Thr734Ile) NC_000006.12:56640332:G:A Identity +NM_001199107.2:c.1501G>A NP_001186036.1:p.Gly501Arg NC_000016.10:2500465:G:A p.(Gly501Arg) NC_000016.10:2500465:G:A p.(Gly501Arg) NC_000016.10:2500465:G:A Identity +NM_152490.5:c.1468C>T NP_689703.1:p.Arg490Trp NC_000001.11:235450240:G:A p.(Arg490Trp) NC_000001.11:235450240:G:A p.(Arg490Trp) NC_000001.11:235450240:G:A Identity +NM_007254.4:c.1558G>A NP_009185.2:p.Glu520Lys NC_000019.10:49861255:C:T p.(Glu520Lys) NC_000019.10:49861255:C:T p.(Glu520Lys) NC_000019.10:49861255:C:T Identity +NM_000109.4:c.5918C>T NP_000100.3:p.Thr1973Met NC_000023.11:32310256:G:A p.(Thr1973Met) NC_000023.11:32310256:G:A p.(Thr1973Met) NC_000023.11:32310256:G:A Identity +NM_001110556.2:c.7381G>T NP_001104026.1:p.Ala2461Ser NC_000023.11:154349819:C:A p.(Ala2461Ser) NC_000023.11:154349819:C:A p.(Ala2461Ser) NC_000023.11:154349819:C:A Identity +NM_001256182.2:c.5786G>A NP_001243111.1:p.Ser1929Asn NC_000016.10:89280755:C:T p.(Ser1929Asn) NC_000016.10:89280755:C:T p.(Ser1929Asn) NC_000016.10:89280755:C:T Identity +NM_001305275.2:c.3056C>T NP_001292204.1:p.Pro1019Leu NC_000001.11:1046540:C:T p.(Pro1019Leu) NC_000001.11:1046540:C:T p.(Pro1019Leu) NC_000001.11:1046540:C:T Identity +NM_003482.4:c.6991dup NP_003473.3:p.Leu2331fs NC_000012.12:49040778:GGGGGG:GGGGGGG p.(Leu2331ProfsTer46) NC_000012.12:49040778:GGGGGG:GGGGGGG p.(Leu2331ProfsTer46) ERR:SPDI Analogous +NM_001134363.3:c.3571C>A NP_001127835.2:p.Gln1191Lys NC_000010.11:110831179:C:A p.(Gln1191Lys) NC_000010.11:110831179:C:A p.(Gln1191Lys) NC_000010.11:110831179:C:A Identity +NM_001378355.1:c.617C>T NP_001365284.1:p.Pro206Leu NC_000019.10:49829876:C:T p.(Pro206Leu) NC_000019.10:49829876:C:T p.(Pro206Leu) NC_000019.10:49829876:C:T Identity +NM_001378120.1:c.4519A>G NP_001365049.1:p.Met1507Val NC_000002.12:148490150:A:G p.(Met1507Val) NC_000002.12:148490150:A:G p.(Met1507Val) NC_000002.12:148490150:A:G Identity +NM_000535.7:c.2228T>C NP_000526.2:p.Leu743Pro NC_000007.14:5978642:A:G p.(Leu743Pro) NC_000007.14:5978642:A:G p.(Leu743Pro) NC_000007.14:5978642:A:G Identity +NM_001146289.2:c.1856del NP_001139761.1:p.Asn619fs NC_000001.11:42747780:TTT:TT p.(Asn619MetfsTer19) NC_000001.11:42747780:TTT:TT p.(Asn619MetfsTer19) NC_000001.11:42747780:T: Analogous +NM_032383.5:c.403del NP_115759.2:p.Ala135fs NC_000003.12:149140187:GG:G p.(Ala135ProfsTer10) NC_000003.12:149140187:GG:G p.(Ala135ProfsTer10) NC_000003.12:149140188:G: Analogous +NM_000038.6:c.121G>T NP_000029.2:p.Ala41Ser NC_000005.10:112755010:G:T p.(Ala41Ser) NC_000005.10:112755010:G:T p.(Ala41Ser) NC_000005.10:112755010:G:T Identity +NM_001206524.2:c.620C>T NP_001193453.1:p.Ser207Leu NC_000002.12:201195883:C:T p.(Ser207Leu) NC_000002.12:201195883:C:T p.(Ser207Leu) NC_000002.12:201195883:C:T Identity +NM_001354263.2:c.2758G>A NP_001341192.1:p.Ala920Thr NC_000009.12:137811526:G:A p.(Ala920Thr) NC_000009.12:137811526:G:A p.(Ala920Thr) NC_000009.12:137811526:G:A Identity +NM_002180.3:c.350C>T NP_002171.2:p.Ala117Val NC_000011.10:68908237:C:T p.(Ala117Val) NC_000011.10:68908237:C:T p.(Ala117Val) NC_000011.10:68908237:C:T Identity +NM_001127487.2:c.6612C>G NP_001120959.1:p.Ile2204Met NC_000007.14:128854199:C:G p.(Ile2204Met) NC_000007.14:128854199:C:G p.(Ile2204Met) NC_000007.14:128854199:C:G Identity +NM_001256850.1:c.96194T>C NP_001243779.1:p.Val32065Ala NC_000002.12:178535497:A:G p.(Val32065Ala) NC_000002.12:178535497:A:G p.(Val32065Ala) NC_000002.12:178535497:A:G Identity +NM_001290307.3:c.733T>C NP_001277236.1:p.Tyr245His NC_000005.10:138824673:T:C p.(Tyr245His) NC_000005.10:138824673:T:C p.(Tyr245His) NC_000005.10:138824673:T:C Identity +NM_001304418.3:c.1484G>T NP_001291347.1:p.Arg495Leu NC_000003.12:69118870:C:A p.(Arg495Leu) NC_000003.12:69118870:C:A p.(Arg495Leu) NC_000003.12:69118870:C:A Identity +NM_000553.6:c.2825G>A NP_000544.2:p.Arg942Lys NC_000008.11:31124999:G:A p.(Arg942Lys) NC_000008.11:31124999:G:A p.(Arg942Lys) NC_000008.11:31124999:G:A Identity +NM_001103.4:c.508A>C NP_001094.1:p.Asn170His NC_000001.11:236725991:A:C p.(Asn170His) NC_000001.11:236725991:A:C p.(Asn170His) NC_000001.11:236725991:A:C Identity +NM_000433.4:c.244T>A NP_000424.2:p.Tyr82Asn NC_000001.11:183586907:A:T p.(Tyr82Asn) NC_000001.11:183586907:A:T p.(Tyr82Asn) NC_000001.11:183586907:A:T Identity +NM_001039885.3:c.316C>T NP_001034974.1:p.Pro106Ser NC_000019.10:46755765:C:T p.(Pro106Ser) NC_000019.10:46755765:C:T p.(Pro106Ser) NC_000019.10:46755765:C:T Identity +NM_000251.3:c.658G>C NP_000242.1:p.Gly220Arg NC_000002.12:47412425:G:C p.(Gly220Arg) NC_000002.12:47412425:G:C p.(Gly220Arg) NC_000002.12:47412425:G:C Identity +NM_000070.3:c.509dup NP_000061.1:p.Tyr170Ter NC_000015.10:42387762:A:AA p.(Tyr170Ter) NC_000015.10:42387762:A:AA p.(Tyr170Ter) ERR:SPDI Identity +NM_000051.4:c.868C>A NP_000042.3:p.His290Asn NC_000011.10:108244992:C:A p.(His290Asn) NC_000011.10:108244992:C:A p.(His290Asn) NC_000011.10:108244992:C:A Identity +NM_001130438.3:c.5309G>A NP_001123910.1:p.Arg1770His NC_000009.12:128615791:G:A p.(Arg1770His) NC_000009.12:128615791:G:A p.(Arg1770His) NC_000009.12:128615791:G:A Identity +NM_004656.4:c.639dup NP_004647.1:p.Ile214fs NC_000003.12:52406848:A:AA p.(Ile214TyrfsTer29) NC_000003.12:52406848:A:AA p.(Ile214TyrfsTer29) ERR:SPDI Analogous +NM_004304.5:c.1219A>C NP_004295.2:p.Ile407Leu NC_000002.12:29383794:T:G p.(Ile407Leu) NC_000002.12:29383794:T:G p.(Ile407Leu) NC_000002.12:29383794:T:G Identity +NM_000264.5:c.3565G>C NP_000255.2:p.Gly1189Arg NC_000009.12:95449307:C:G p.(Gly1189Arg) NC_000009.12:95449307:C:G p.(Gly1189Arg) NC_000009.12:95449307:C:G Identity +NM_001195573.1:c.2587C>T NP_001182502.1:p.Pro863Ser NC_000014.9:95107942:G:A p.(Pro863Ser) NC_000014.9:95107942:G:A p.(Pro863Ser) NC_000014.9:95107942:G:A Identity +NM_001290020.2:c.2192G>A NP_001276949.1:p.Arg731Gln NC_000010.11:27936785:C:T p.(Arg731Gln) NC_000010.11:27936785:C:T p.(Arg731Gln) NC_000010.11:27936785:C:T Identity +NM_004204.5:c.65G>A NP_004195.2:p.Arg22Gln NC_000016.10:574138:G:A p.(Arg22Gln) NC_000016.10:574138:G:A p.(Arg22Gln) NC_000016.10:574138:G:A Identity +NM_001160227.2:c.3186G>C NP_001153699.1:p.Gln1062His NC_000015.10:44610944:C:G p.(Gln1062His) NC_000015.10:44610944:C:G p.(Gln1062His) NC_000015.10:44610944:C:G Identity +NM_002103.5:c.314G>A NP_002094.2:p.Arg105His NC_000019.10:48987371:C:T p.(Arg105His) NC_000019.10:48987371:C:T p.(Arg105His) NC_000019.10:48987371:C:T Identity +NM_001164277.2:c.170C>A NP_001157749.1:p.Ser57Ter NC_000011.10:119028404:G:T p.(Ser57Ter) NC_000011.10:119028404:G:T p.(Ser57Ter) NC_000011.10:119028404:G:T Identity +NM_001128846.2:c.4531G>A NP_001122318.1:p.Glu1511Lys NC_000019.10:11058877:G:A p.(Glu1511Lys) NC_000019.10:11058877:G:A p.(Glu1511Lys) NC_000019.10:11058877:G:A Identity +NM_001105206.3:c.1522G>A NP_001098676.2:p.Ala508Thr NC_000006.12:112172639:C:T p.(Ala508Thr) NC_000006.12:112172639:C:T p.(Ala508Thr) NC_000006.12:112172639:C:T Identity +NM_003803.4:c.2054G>A NP_003794.3:p.Arg685Gln NC_000018.10:3135701:C:T p.(Arg685Gln) NC_000018.10:3135701:C:T p.(Arg685Gln) NC_000018.10:3135701:C:T Identity +NM_001363813.1:c.1258C>A NP_001350742.1:p.Gln420Lys NC_000017.11:65537777:G:T p.(Gln420Lys) NC_000017.11:65537777:G:T p.(Gln420Lys) NC_000017.11:65537777:G:T Identity +NM_001136472.2:c.236T>C NP_001129944.1:p.Val79Ala NC_000016.10:11553673:A:G p.(Val79Ala) NC_000016.10:11553673:A:G p.(Val79Ala) NC_000016.10:11553673:A:G Identity +NM_001005505.3:c.2694C>A NP_001005505.1:p.Asn898Lys NC_000003.12:50366281:G:T p.(Asn898Lys) NC_000003.12:50366281:G:T p.(Asn898Lys) NC_000003.12:50366281:G:T Identity +NM_001005407.2:c.5978C>T NP_001005407.1:p.Ser1993Phe NC_000016.10:1219077:C:T p.(Ser1993Phe) NC_000016.10:1219077:C:T p.(Ser1993Phe) NC_000016.10:1219077:C:T Identity +NM_001130455.2:c.1871del NP_001123927.1:p.Lys624fs NC_000002.12:71553124:AA:A p.(Lys624SerfsTer4) NC_000002.12:71553124:AA:A p.(Lys624SerfsTer4) NC_000002.12:71553125:A: Analogous +NM_000535.7:c.1684T>C NP_000526.2:p.Phe562Leu NC_000007.14:5987080:A:G p.(Phe562Leu) NC_000007.14:5987080:A:G p.(Phe562Leu) NC_000007.14:5987080:A:G Identity +NM_001024688.3:c.485T>C NP_001019859.1:p.Phe162Ser NC_000008.11:89970528:A:G p.(Phe162Ser) NC_000008.11:89970528:A:G p.(Phe162Ser) NC_000008.11:89970528:A:G Identity +NM_000069.3:c.4170C>G NP_000060.2:p.Asp1390Glu NC_000001.11:201050459:G:C p.(Asp1390Glu) NC_000001.11:201050459:G:C p.(Asp1390Glu) NC_000001.11:201050459:G:C Identity +NM_000321.3:c.2239G>A NP_000312.2:p.Glu747Lys NC_000013.11:48465024:G:A p.(Glu747Lys) NC_000013.11:48465024:G:A p.(Glu747Lys) NC_000013.11:48465024:G:A Identity +NM_000520.6:c.672G>T NP_000511.2:p.Lys224Asn NC_000015.10:72351132:C:A p.(Lys224Asn) NC_000015.10:72351132:C:A p.(Lys224Asn) NC_000015.10:72351132:C:A Identity +LRG_144t1:c.995G>A LRG_144p1:p.Arg332Gln NC_000001.11:36472239:C:T ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_004204.5:c.874C>G NP_004195.2:p.Leu292Val NC_000016.10:576185:C:G p.(Leu292Val) NC_000016.10:576185:C:G p.(Leu292Val) NC_000016.10:576185:C:G Identity +NM_181882.3:c.4017C>A NP_870998.2:p.Ser1339Arg NC_000019.10:40394334:G:T p.(Ser1339Arg) NC_000019.10:40394334:G:T p.(Ser1339Arg) NC_000019.10:40394334:G:T Identity +NM_001345856.2:c.2281C>G NP_001332785.1:p.Gln761Glu NC_000004.12:123090648:C:G p.(Gln761Glu) NC_000004.12:123090648:C:G p.(Gln761Glu) NC_000004.12:123090648:C:G Identity +NM_001081640.2:c.4856C>G NP_001075109.1:p.Ala1619Gly NC_000008.11:47882017:G:C p.(Ala1619Gly) NC_000008.11:47882017:G:C p.(Ala1619Gly) NC_000008.11:47882017:G:C Identity +NM_001127487.2:c.6494G>A NP_001120959.1:p.Gly2165Asp NC_000007.14:128854081:G:A p.(Gly2165Asp) NC_000007.14:128854081:G:A p.(Gly2165Asp) NC_000007.14:128854081:G:A Identity +NM_025099.6:c.139A>G NP_079375.3:p.Lys47Glu NC_000017.11:8243042:T:C p.(Lys47Glu) NC_000017.11:8243042:T:C p.(Lys47Glu) NC_000017.11:8243042:T:C Identity +NM_001207000.1:c.326G>C NP_001193929.1:p.Arg109Pro NC_000004.12:82429364:C:G p.(Arg109Pro) NC_000004.12:82429364:C:G p.(Arg109Pro) NC_000004.12:82429364:C:G Identity +NM_000314.8:c.820T>C NP_000305.3:p.Trp274Arg NC_000010.11:87960911:T:C p.(Trp274Arg) NC_000010.11:87960911:T:C p.(Trp274Arg) NC_000010.11:87960911:T:C Identity +NM_001976.5:c.296G>A NP_001967.3:p.Gly99Glu NC_000017.11:4953326:G:A p.(Gly99Glu) NC_000017.11:4953326:G:A p.(Gly99Glu) NC_000017.11:4953326:G:A Identity +NM_001145661.2:c.1090G>A NP_001139133.1:p.Ala364Thr NC_000003.12:128481871:C:T p.(Ala364Thr) NC_000003.12:128481871:C:T p.(Ala364Thr) NC_000003.12:128481871:C:T Identity +NM_001365999.1:c.3443G>A NP_001352928.1:p.Arg1148His NC_000001.11:43427289:G:A p.(Arg1148His) NC_000001.11:43427289:G:A p.(Arg1148His) NC_000001.11:43427289:G:A Identity +NM_139076.3:c.320A>T NP_620775.2:p.Asp107Val NC_000004.12:83470358:T:A p.(Asp107Val) NC_000004.12:83470358:T:A p.(Asp107Val) NC_000004.12:83470358:T:A Identity +NM_001165963.4:c.725A>T NP_001159435.1:p.Gln242Leu NC_000002.12:166051957:T:A p.(Gln242Leu) NC_000002.12:166051957:T:A p.(Gln242Leu) NC_000002.12:166051957:T:A Identity +LRG_1314t1:c.567G>T LRG_1314p1:p.Gln189His NC_000003.12:3144668:G:T ERR:Data provider error: ValueError: Transcript LRG_1314t1 not found ERR:Data provider error: ValueError: Transcript LRG_1314t1 not found ERR:AlignmentMapper(tx_ac=LRG_1314t1, alt_ac=LRG_1314t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1314t1, alt_ac=LRG_1314t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1314t1 not found +NM_000152.5:c.2122C>A NP_000143.2:p.His708Asn NC_000017.11:80113298:C:A p.(His708Asn) NC_000017.11:80113298:C:A p.(His708Asn) NC_000017.11:80113298:C:A Identity +NM_001323956.2:c.488C>T NP_001310885.1:p.Ser163Leu NC_000020.11:422206:C:T p.(Ser163Leu) NC_000020.11:422206:C:T p.(Ser163Leu) NC_000020.11:422206:C:T Identity +NM_001281463.1:c.3169A>G NP_001268392.1:p.Thr1057Ala NC_000023.11:53382555:T:C p.(Thr1057Ala) NC_000023.11:53382555:T:C p.(Thr1057Ala) NC_000023.11:53382555:T:C Identity +NM_001127487.2:c.4069G>A NP_001120959.1:p.Gly1357Arg NC_000007.14:128846404:G:A p.(Gly1357Arg) NC_000007.14:128846404:G:A p.(Gly1357Arg) NC_000007.14:128846404:G:A Identity +NM_033087.4:c.314C>G NP_149078.1:p.Ala105Gly NC_000009.12:99221580:G:C p.(Ala105Gly) NC_000009.12:99221580:G:C p.(Ala105Gly) NC_000009.12:99221580:G:C Identity +NM_001199917.2:c.1219T>C NP_001186846.1:p.Phe407Leu NC_000006.12:83174480:A:G p.(Phe407Leu) NC_000006.12:83174480:A:G p.(Phe407Leu) NC_000006.12:83174480:A:G Identity +NM_001363813.1:c.772A>C NP_001350742.1:p.Thr258Pro NC_000017.11:65557848:T:G p.(Thr258Pro) NC_000017.11:65557848:T:G p.(Thr258Pro) NC_000017.11:65557848:T:G Identity +NM_000038.6:c.156del NP_000029.2:p.Gly53fs NC_000005.10:112766344:AA:A p.(Gly53GlufsTer17) NC_000005.10:112766344:AA:A p.(Gly53GlufsTer17) NC_000005.10:112766345:A: Analogous +NM_001303238.2:c.1844G>A NP_001290167.1:p.Arg615His NC_000021.9:44888721:C:T p.(Arg615His) NC_000021.9:44888721:C:T p.(Arg615His) NC_000021.9:44888721:C:T Identity +NM_001324281.3:c.3G>C NP_001311210.1:p.Met1Ile NC_000007.14:2958503:C:G p.(Met1Ile) NC_000007.14:2958503:C:G p.Met1? NC_000007.14:2958503:C:G Identity +LRG_1366t1:c.2T>A LRG_1366p1:p.Met1Lys NC_000016.10:2047821:A:T ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found +NM_004369.4:c.661G>A NP_004360.2:p.Val221Met NC_000002.12:237394634:C:T p.(Val221Met) NC_000002.12:237394634:C:T p.(Val221Met) NC_000002.12:237394634:C:T Identity +LRG_1317t1:c.2925A>C LRG_1317p1:p.Lys975Asn NC_000002.12:32224622:T:G ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found +NM_001354263.2:c.2900C>T NP_001341192.1:p.Thr967Met NC_000009.12:137813058:C:T p.(Thr967Met) NC_000009.12:137813058:C:T p.(Thr967Met) NC_000009.12:137813058:C:T Identity +NM_006158.5:c.1016A>C NP_006149.2:p.Lys339Thr NC_000008.11:24955499:T:G p.(Lys339Thr) NC_000008.11:24955499:T:G p.(Lys339Thr) NC_000008.11:24955499:T:G Identity +NM_004281.4:c.1243G>T NP_004272.2:p.Ala415Ser NC_000010.11:119676796:G:T p.(Ala415Ser) NC_000010.11:119676796:G:T p.(Ala415Ser) NC_000010.11:119676796:G:T Identity +LRG_1319t1:c.472G>T LRG_1319p1:p.Ala158Ser NC_000001.11:1212103:C:A ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1319t1, alt_ac=LRG_1319t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1319t1 not found +NM_001005407.2:c.2272A>G NP_001005407.1:p.Ser758Gly NC_000016.10:1204278:A:G p.(Ser758Gly) NC_000016.10:1204278:A:G p.(Ser758Gly) NC_000016.10:1204278:A:G Identity +NM_001135659.3:c.4214G>T NP_001129131.1:p.Arg1405Ile NC_000002.12:50053304:C:A p.(Arg1405Ile) NC_000002.12:50053304:C:A p.(Arg1405Ile) NC_000002.12:50053304:C:A Identity +LRG_1308t1:c.49G>A LRG_1308p1:p.Gly17Arg NC_000005.10:139481655:C:T ERR:Data provider error: ValueError: Transcript LRG_1308t1 not found ERR:Data provider error: ValueError: Transcript LRG_1308t1 not found ERR:AlignmentMapper(tx_ac=LRG_1308t1, alt_ac=LRG_1308t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1308t1, alt_ac=LRG_1308t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1308t1 not found +NM_000384.3:c.1554G>C NP_000375.3:p.Lys518Asn NC_000002.12:21029701:C:G p.(Lys518Asn) NC_000002.12:21029701:C:G p.(Lys518Asn) NC_000002.12:21029701:C:G Identity +NM_001407936.1:c.1893del NP_001394865.1:p.Glu631fs NC_000017.11:43093370:TT:T p.(Glu631AspfsTer16) NC_000017.11:43093370:TT:T p.(Glu631AspfsTer16) NC_000017.11:43093370:T: Analogous +NM_001161520.2:c.1903A>G NP_001154992.2:p.Lys635Glu NC_000007.14:107236637:T:C p.(Lys635Glu) NC_000007.14:107236637:T:C p.(Lys635Glu) NC_000007.14:107236637:T:C Identity +NM_001035512.3:c.199G>A NP_001030589.1:p.Glu67Lys NC_000001.11:161356735:G:A p.(Glu67Lys) NC_000001.11:161356735:G:A p.(Glu67Lys) NC_000001.11:161356735:G:A Identity +NM_001007792.1:c.533G>A NP_001007793.1:p.Gly178Glu NC_000001.11:156868552:G:A p.(Gly178Glu) NC_000001.11:156868552:G:A p.(Gly178Glu) NC_000001.11:156868552:G:A Identity +NM_006612.6:c.1115G>A NP_006603.2:p.Arg372Gln NC_000017.11:5004949:G:A p.(Arg372Gln) NC_000017.11:5004949:G:A p.(Arg372Gln) NC_000017.11:5004949:G:A Identity +LRG_1334t1:c.950C>T LRG_1334p1:p.Thr317Ile NC_000004.12:2829855:C:T ERR:Data provider error: ValueError: Transcript LRG_1334t1 not found ERR:Data provider error: ValueError: Transcript LRG_1334t1 not found ERR:AlignmentMapper(tx_ac=LRG_1334t1, alt_ac=LRG_1334t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1334t1, alt_ac=LRG_1334t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1334t1 not found +NM_000323.2:c.2209A>C NP_000314.1:p.Lys737Gln NC_000010.11:43116655:A:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001127178.3:c.2569C>T NP_001120650.1:p.Gln857Ter NC_000004.12:530742:C:T p.(Gln857Ter) NC_000004.12:530742:C:T p.(Gln857Ter) NC_000004.12:530742:C:T Identity +NM_006231.4:c.1718G>A NP_006222.2:p.Arg573Gln NC_000012.12:132672290:C:T p.(Arg573Gln) NC_000012.12:132672290:C:T p.(Arg573Gln) NC_000012.12:132672290:C:T Identity +NM_001349253.2:c.3132C>A NP_001336182.1:p.Asn1044Lys NC_000003.12:38883319:G:T p.(Asn1044Lys) NC_000003.12:38883319:G:T p.(Asn1044Lys) NC_000003.12:38883319:G:T Identity +NM_001042663.3:c.2686C>T NP_001036128.2:p.Arg896Cys NC_000001.11:6468260:G:A p.(Arg896Cys) NC_000001.11:6468260:G:A p.(Arg896Cys) NC_000001.11:6468260:G:A Identity +NM_002506.3:c.109T>C NP_002497.2:p.Trp37Arg NC_000001.11:115286686:A:G p.(Trp37Arg) NC_000001.11:115286686:A:G p.(Trp37Arg) NC_000001.11:115286686:A:G Identity +NM_183075.3:c.471del NP_898898.1:p.Ile158fs NC_000004.12:107932112:CC:C p.(Ile158SerfsTer2) NC_000004.12:107932112:CC:C p.(Ile158SerfsTer2) NC_000004.12:107932113:C: Analogous +NM_000093.5:c.4487A>G NP_000084.3:p.Glu1496Gly NC_000009.12:134820155:A:G p.(Glu1496Gly) NC_000009.12:134820155:A:G p.(Glu1496Gly) NC_000009.12:134820155:A:G Identity +NM_001040633.2:c.326C>G NP_001035723.1:p.Ser109Cys NC_000007.14:151781159:G:C p.(Ser109Cys) NC_000007.14:151781159:G:C p.(Ser109Cys) NC_000007.14:151781159:G:C Identity +NM_001135242.2:c.776T>C NP_001128714.1:p.Val259Ala NC_000008.11:133247905:A:G p.(Val259Ala) NC_000008.11:133247905:A:G p.(Val259Ala) NC_000008.11:133247905:A:G Identity +NM_152594.3:c.401C>G NP_689807.1:p.Ala134Gly NC_000015.10:38324786:C:G p.(Ala134Gly) NC_000015.10:38324786:C:G p.(Ala134Gly) NC_000015.10:38324786:C:G Identity +NM_173354.5:c.232A>T NP_775490.2:p.Met78Leu NC_000021.9:43425447:T:A p.(Met78Leu) NC_000021.9:43425447:T:A p.(Met78Leu) NC_000021.9:43425447:T:A Identity +NM_000038.6:c.2999A>G NP_000029.2:p.Tyr1000Cys NC_000005.10:112838592:A:G p.(Tyr1000Cys) NC_000005.10:112838592:A:G p.(Tyr1000Cys) NC_000005.10:112838592:A:G Identity +NM_001289905.2:c.2381T>A NP_001276834.1:p.Leu794His NC_000022.11:17109701:T:A p.(Leu794His) NC_000022.11:17109701:T:A p.(Leu794His) NC_000022.11:17109701:T:A Identity +NM_001201484.2:c.1513G>A NP_001188413.1:p.Val505Met NC_000009.12:35090555:C:T p.(Val505Met) NC_000009.12:35090555:C:T p.(Val505Met) NC_000009.12:35090555:C:T Identity +NM_052874.5:c.841T>C NP_443106.1:p.Ser281Pro NC_000016.10:30992846:A:G p.(Ser281Pro) NC_000016.10:30992846:A:G p.(Ser281Pro) NC_000016.10:30992846:A:G Identity +NM_152383.5:c.2066A>G NP_689596.4:p.Tyr689Cys NC_000002.12:232333894:A:G p.(Tyr689Cys) NC_000002.12:232333894:A:G p.(Tyr689Cys) NC_000002.12:232333894:A:G Identity +NM_000388.4:c.2054G>C NP_000379.3:p.Gly685Ala NC_000003.12:122284007:G:C p.(Gly685Ala) NC_000003.12:122284007:G:C p.(Gly685Ala) NC_000003.12:122284007:G:C Identity +NM_001256850.1:c.97279C>T NP_001243779.1:p.Leu32427Phe NC_000002.12:178534412:G:A p.(Leu32427Phe) NC_000002.12:178534412:G:A p.(Leu32427Phe) NC_000002.12:178534412:G:A Identity +NM_001114382.3:c.3683del NP_001107854.1:p.Leu1228fs NC_000016.10:2081666:T: p.(Leu1228ArgfsTer74) NC_000016.10:2081666:T: p.(Leu1228ArgfsTer74) NC_000016.10:2081666:T: Analogous +NM_014908.4:c.914C>G NP_055723.1:p.Ser305Cys NC_000009.12:128946389:G:C p.(Ser305Cys) NC_000009.12:128946389:G:C p.(Ser305Cys) NC_000009.12:128946389:G:C Identity +NM_001172420.2:c.653C>A NP_001165891.1:p.Thr218Asn NC_000006.12:52452823:C:A p.(Thr218Asn) NC_000006.12:52452823:C:A p.(Thr218Asn) NC_000006.12:52452823:C:A Identity +NM_006393.3:c.1933G>A NP_006384.1:p.Val645Ile NC_000010.11:20823236:C:T p.(Val645Ile) NC_000010.11:20823236:C:T p.(Val645Ile) NC_000010.11:20823236:C:T Identity +NM_015180.6:c.12194T>C NP_055995.4:p.Leu4065Pro NC_000014.9:64098033:T:C p.(Leu4065Pro) NC_000014.9:64098033:T:C p.(Leu4065Pro) NC_000014.9:64098033:T:C Identity +NM_001293557.2:c.938C>G NP_001280486.1:p.Ala313Gly NC_000016.10:50710929:C:G p.(Ala313Gly) NC_000016.10:50710929:C:G p.(Ala313Gly) NC_000016.10:50710929:C:G Identity +NM_001081640.2:c.3547T>C NP_001075109.1:p.Cys1183Arg NC_000008.11:47897211:A:G p.(Cys1183Arg) NC_000008.11:47897211:A:G p.(Cys1183Arg) NC_000008.11:47897211:A:G Identity +NM_000138.5:c.2414G>A NP_000129.3:p.Cys805Tyr NC_000015.10:48496104:C:T p.(Cys805Tyr) NC_000015.10:48496104:C:T p.(Cys805Tyr) NC_000015.10:48496104:C:T Identity +NM_001127897.4:c.1886C>T NP_001121369.1:p.Pro629Leu NC_000016.10:53652800:G:A p.(Pro629Leu) NC_000016.10:53652800:G:A p.(Pro629Leu) NC_000016.10:53652800:G:A Identity +NM_001330540.2:c.317T>C NP_001317469.1:p.Val106Ala NC_000001.11:45508853:T:C p.(Val106Ala) NC_000001.11:45508853:T:C p.(Val106Ala) NC_000001.11:45508853:T:C Identity +LRG_402t1:c.13067C>T LRG_402p1:p.Ala4356Val NC_000001.11:237784778:C:T ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001005609.2:c.181T>A NP_001005609.1:p.Tyr61Asn NC_000023.11:69616488:T:A p.(Tyr61Asn) NC_000023.11:69616488:T:A p.(Tyr61Asn) NC_000023.11:69616488:T:A Identity +NM_000503.6:c.1418_1421del NP_000494.2:p.Ala473fs NC_000008.11:71215667:AGGG: p.(Ala473GlyfsTer6) NC_000008.11:71215667:AGGG: p.(Ala473GlyfsTer6) NC_000008.11:71215667:AGGG: Analogous +NM_001354267.2:c.4226T>A NP_001341196.1:p.Met1409Lys NC_000004.12:113350234:T:A p.(Met1409Lys) NC_000004.12:113350234:T:A p.(Met1409Lys) NC_000004.12:113350234:T:A Identity +NM_000038.6:c.5372A>C NP_000029.2:p.Lys1791Thr NC_000005.10:112840965:A:C p.(Lys1791Thr) NC_000005.10:112840965:A:C p.(Lys1791Thr) NC_000005.10:112840965:A:C Identity +NM_001347827.2:c.1493C>T NP_001334756.1:p.Ala498Val NC_000004.12:54273664:C:T p.(Ala498Val) NC_000004.12:54273664:C:T p.(Ala498Val) NC_000004.12:54273664:C:T Identity +NM_001290307.3:c.1390G>T NP_001277236.1:p.Val464Phe NC_000005.10:138917741:G:T p.(Val464Phe) NC_000005.10:138917741:G:T p.(Val464Phe) NC_000005.10:138917741:G:T Identity +NM_001145527.2:c.1412C>T NP_001138999.1:p.Thr471Met NC_000009.12:137757921:C:T p.(Thr471Met) NC_000009.12:137757921:C:T p.(Thr471Met) NC_000009.12:137757921:C:T Identity +NM_000404.4:c.163del NP_000395.3:p.Ile55fs NC_000003.12:33072625:T: p.(Ile55PhefsTer16) NC_000003.12:33072625:T: p.(Ile55PhefsTer16) NC_000003.12:33072625:T: Analogous +NM_000179.3:c.2660T>G NP_000170.1:p.Leu887Arg NC_000002.12:47800642:T:G p.(Leu887Arg) NC_000002.12:47800642:T:G p.(Leu887Arg) NC_000002.12:47800642:T:G Identity +NM_001848.3:c.887G>T NP_001839.2:p.Gly296Val NC_000021.9:45989635:G:T p.(Gly296Val) NC_000021.9:45989635:G:T p.(Gly296Val) NC_000021.9:45989635:G:T Identity +LRG_1226t1:c.1061G>A LRG_1226p1:p.Gly354Asp NC_000002.12:74462727:C:T ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1226t1, alt_ac=LRG_1226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1226t1 not found +NM_000038.6:c.8218C>A NP_000029.2:p.Pro2740Thr NC_000005.10:112843811:C:A p.(Pro2740Thr) NC_000005.10:112843811:C:A p.(Pro2740Thr) NC_000005.10:112843811:C:A Identity +NM_001276695.3:c.263C>A NP_001263624.1:p.Ser88Tyr NC_000017.11:7675231:G:T p.(Ser88Tyr) NC_000017.11:7675231:G:T p.(Ser88Tyr) NC_000017.11:7675231:G:T Identity +NM_014141.6:c.3897G>C NP_054860.1:p.Lys1299Asn NC_000007.14:148415516:G:C p.(Lys1299Asn) NC_000007.14:148415516:G:C p.(Lys1299Asn) NC_000007.14:148415516:G:C Identity +NM_001204255.2:c.873C>G NP_001191184.1:p.Ile291Met NC_000004.12:76163320:G:C p.(Ile291Met) NC_000004.12:76163320:G:C p.(Ile291Met) NC_000004.12:76163320:G:C Identity +NM_001160302.2:c.3755C>T NP_001153774.1:p.Ala1252Val NC_000021.9:32639019:G:A p.(Ala1252Val) NC_000021.9:32639019:G:A p.(Ala1252Val) NC_000021.9:32639019:G:A Identity +LRG_785t1:c.2788G>T LRG_785p1:p.Ala930Ser NC_000019.10:50415793:G:T ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_785t1 not found +NM_006393.3:c.241G>A NP_006384.1:p.Gly81Ser NC_000010.11:20889861:C:T p.(Gly81Ser) NC_000010.11:20889861:C:T p.(Gly81Ser) NC_000010.11:20889861:C:T Identity +NM_001244008.2:c.424G>A NP_001230937.1:p.Val142Met NC_000002.12:240787255:C:T p.(Val142Met) NC_000002.12:240787255:C:T p.(Val142Met) NC_000002.12:240787255:C:T Identity +NM_001190720.3:c.508A>G NP_001177649.2:p.Lys170Glu NC_000008.11:42314328:A:G p.(Lys170Glu) NC_000008.11:42314328:A:G p.(Lys170Glu) NC_000008.11:42314328:A:G Identity +NM_001308276.2:c.1453C>T NP_001295205.1:p.Arg485Cys NC_000010.11:93797725:C:T p.(Arg485Cys) NC_000010.11:93797725:C:T p.(Arg485Cys) NC_000010.11:93797725:C:T Identity +NM_001286075.2:c.2087C>A NP_001273004.1:p.Pro696His NC_000016.10:28902323:C:A p.(Pro696His) NC_000016.10:28902323:C:A p.(Pro696His) NC_000016.10:28902323:C:A Identity +NM_000257.4:c.4199C>A NP_000248.2:p.Ala1400Asp NC_000014.9:23417656:G:T p.(Ala1400Asp) NC_000014.9:23417656:G:T p.(Ala1400Asp) NC_000014.9:23417656:G:T Identity +NM_001099679.2:c.479T>G NP_001093149.1:p.Met160Arg NC_000009.12:116698220:T:G p.(Met160Arg) NC_000009.12:116698220:T:G p.(Met160Arg) NC_000009.12:116698220:T:G Identity +NM_000051.4:c.4367G>A NP_000042.3:p.Gly1456Asp NC_000011.10:108289731:G:A p.(Gly1456Asp) NC_000011.10:108289731:G:A p.(Gly1456Asp) NC_000011.10:108289731:G:A Identity +NM_001386339.1:c.4949G>A NP_001373268.1:p.Arg1650Gln NC_000011.10:9789187:C:T p.(Arg1650Gln) NC_000011.10:9789187:C:T p.(Arg1650Gln) NC_000011.10:9789187:C:T Identity +NM_001365536.1:c.4066G>T NP_001352465.1:p.Gly1356Trp NC_000002.12:166228830:C:A p.(Gly1356Trp) NC_000002.12:166228830:C:A p.(Gly1356Trp) NC_000002.12:166228830:C:A Identity +LRG_1076t1:c.323del LRG_1076p1:p.Phe108fs NC_000011.10:119089737:TT:T ERR:Data provider error: ValueError: Transcript LRG_1076t1 not found ERR:Data provider error: ValueError: Transcript LRG_1076t1 not found ERR:AlignmentMapper(tx_ac=LRG_1076t1, alt_ac=LRG_1076t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1076t1, alt_ac=LRG_1076t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1076t1 not found +NM_001122606.1:c.416A>T NP_001116078.1:p.Glu139Val NC_000023.11:120449109:T:A p.(Glu139Val) NC_000023.11:120449109:T:A p.(Glu139Val) NC_000023.11:120449109:T:A Identity +NM_003334.4:c.2584A>G NP_003325.2:p.Ile862Val NC_000023.11:47212800:A:G p.(Ile862Val) NC_000023.11:47212800:A:G p.(Ile862Val) NC_000023.11:47212800:A:G Identity +NM_001375808.2:c.1133C>T NP_001362737.1:p.Pro378Leu NC_000018.10:2937726:G:A p.(Pro378Leu) NC_000018.10:2937726:G:A p.(Pro378Leu) NC_000018.10:2937726:G:A Identity +NM_000257.4:c.4440G>T NP_000248.2:p.Glu1480Asp NC_000014.9:23417231:C:A p.(Glu1480Asp) NC_000014.9:23417231:C:A p.(Glu1480Asp) NC_000014.9:23417231:C:A Identity +NM_001290020.2:c.3113C>G NP_001276949.1:p.Thr1038Arg NC_000010.11:27812533:G:C p.(Thr1038Arg) NC_000010.11:27812533:G:C p.(Thr1038Arg) NC_000010.11:27812533:G:C Identity +NM_152468.5:c.693G>C NP_689681.2:p.Lys231Asn NC_000017.11:78133876:G:C p.(Lys231Asn) NC_000017.11:78133876:G:C p.(Lys231Asn) NC_000017.11:78133876:G:C Identity +NM_001271999.2:c.5774A>C NP_001258928.1:p.Tyr1925Ser NC_000001.11:62475860:T:G p.(Tyr1925Ser) NC_000001.11:62475860:T:G p.(Tyr1925Ser) NC_000001.11:62475860:T:G Identity +NM_001285829.2:c.22C>T NP_001272758.1:p.Pro8Ser NC_000019.10:33302035:G:A p.(Pro8Ser) NC_000019.10:33302035:G:A p.(Pro8Ser) NC_000019.10:33302035:G:A Identity +NM_001349253.2:c.1602G>T NP_001336182.1:p.Lys534Asn NC_000003.12:38905192:C:A p.(Lys534Asn) NC_000003.12:38905192:C:A p.(Lys534Asn) NC_000003.12:38905192:C:A Identity +LRG_1366t1:c.583G>A LRG_1366p1:p.Asp195Asn NC_000016.10:2043668:C:T ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found +NM_001369.3:c.7831T>C NP_001360.1:p.Cys2611Arg NC_000005.10:13807646:A:G p.(Cys2611Arg) NC_000005.10:13807646:A:G p.(Cys2611Arg) NC_000005.10:13807646:A:G Identity +NM_001042572.3:c.486A>C NP_001036037.1:p.Gln162His NC_000015.10:92937559:A:C p.(Gln162His) NC_000015.10:92937559:A:C p.(Gln162His) NC_000015.10:92937559:A:C Identity +NM_005045.4:c.3607G>A NP_005036.2:p.Val1203Met NC_000007.14:103594424:C:T p.(Val1203Met) NC_000007.14:103594424:C:T p.(Val1203Met) NC_000007.14:103594424:C:T Identity +NM_000090.4:c.242T>C NP_000081.2:p.Phe81Ser NC_000002.12:188984921:T:C p.(Phe81Ser) NC_000002.12:188984921:T:C p.(Phe81Ser) NC_000002.12:188984921:T:C Identity +NM_000195.5:c.551_552del NP_000186.2:p.Ile184fs NC_000010.11:98431246:TAT:T p.(Ile184ArgfsTer39) NC_000010.11:98431246:TAT:T p.(Ile184ArgfsTer39) NC_000010.11:98431246:TA: Analogous +NM_006939.4:c.2969A>G NP_008870.2:p.Glu990Gly NC_000014.9:50134228:T:C p.(Glu990Gly) NC_000014.9:50134228:T:C p.(Glu990Gly) NC_000014.9:50134228:T:C Identity +NM_001081640.2:c.11851A>G NP_001075109.1:p.Ser3951Gly NC_000008.11:47777783:T:C p.(Ser3951Gly) NC_000008.11:47777783:T:C p.(Ser3951Gly) NC_000008.11:47777783:T:C Identity +LRG_1327t1:c.1060G>A LRG_1327p1:p.Val354Ile NC_000003.12:53186000:G:A ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1327t1, alt_ac=LRG_1327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1327t1 not found +NM_001723.7:c.5912A>G NP_001714.1:p.Asp1971Gly NC_000006.12:56618121:T:C p.(Asp1971Gly) NC_000006.12:56618121:T:C p.(Asp1971Gly) NC_000006.12:56618121:T:C Identity +NM_001354897.2:c.3780A>T NP_001341826.1:p.Lys1260Asn NC_000005.10:112839343:A:T p.(Lys1260Asn) NC_000005.10:112839343:A:T p.(Lys1260Asn) NC_000005.10:112839343:A:T Identity +NM_000038.6:c.2616_2617inv NP_000029.2:p.Ser873Thr NC_000005.10:112838209:TT:AA p.(Ser873Thr) NC_000005.10:112838209:TT:AA p.(Ser873Thr) ERR:SPDI Identity +NM_000153.4:c.94C>A NP_000144.2:p.Leu32Met NC_000014.9:87993070:G:T p.(Leu32Met) NC_000014.9:87993070:G:T p.(Leu32Met) NC_000014.9:87993070:G:T Identity +NM_001062.4:c.776A>G NP_001053.2:p.Asn259Ser NC_000011.10:59856029:T:C p.(Asn259Ser) NC_000011.10:59856029:T:C p.(Asn259Ser) NC_000011.10:59856029:T:C Identity +NM_001206927.2:c.5222T>C NP_001193856.1:p.Ile1741Thr NC_000006.12:38850272:T:C p.(Ile1741Thr) NC_000006.12:38850272:T:C p.(Ile1741Thr) NC_000006.12:38850272:T:C Identity +NM_001354895.2:c.1057C>A NP_001341824.1:p.Leu353Ile NC_000005.10:112819088:C:A p.(Leu353Ile) NC_000005.10:112819088:C:A p.(Leu353Ile) NC_000005.10:112819088:C:A Identity +NM_001034850.3:c.428G>A NP_001030022.1:p.Gly143Asp NC_000005.10:16565792:C:T p.(Gly143Asp) NC_000005.10:16565792:C:T p.(Gly143Asp) NC_000005.10:16565792:C:T Identity +NM_001256213.2:c.1505A>G NP_001243142.1:p.Asn502Ser NC_000019.10:41978763:T:C p.(Asn502Ser) NC_000019.10:41978763:T:C p.(Asn502Ser) NC_000019.10:41978763:T:C Identity +NM_000920.4:c.2227A>G NP_000911.2:p.Met743Val NC_000011.10:66850919:T:C p.(Met743Val) NC_000011.10:66850919:T:C p.(Met743Val) NC_000011.10:66850919:T:C Identity +LRG_144t1:c.2564A>G LRG_144p1:p.His855Arg NC_000001.11:36466384:T:C ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:Data provider error: ValueError: Transcript LRG_144t1 not found ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_144t1, alt_ac=LRG_144t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_144t1 not found +NM_033071.5:c.2782C>T NP_149062.2:p.His928Tyr NC_000006.12:152455556:G:A p.(His928Tyr) NC_000006.12:152455556:G:A p.(His928Tyr) NC_000006.12:152455556:G:A Identity +NM_001211.6:c.2901A>T NP_001202.5:p.Glu967Asp NC_000015.10:40218505:A:T p.(Glu967Asp) NC_000015.10:40218505:A:T p.(Glu967Asp) NC_000015.10:40218505:A:T Identity +NM_001081640.2:c.4664A>G NP_001075109.1:p.His1555Arg NC_000008.11:47886055:T:C p.(His1555Arg) NC_000008.11:47886055:T:C p.(His1555Arg) NC_000008.11:47886055:T:C Identity +NM_002334.4:c.5669A>G NP_002325.2:p.Asp1890Gly NC_000011.10:46859031:T:C p.(Asp1890Gly) NC_000011.10:46859031:T:C p.(Asp1890Gly) NC_000011.10:46859031:T:C Identity +NM_001363813.1:c.270C>G NP_001350742.1:p.Asp90Glu NC_000017.11:65558350:G:C p.(Asp90Glu) NC_000017.11:65558350:G:C p.(Asp90Glu) NC_000017.11:65558350:G:C Identity +NM_000059.4:c.8213C>T NP_000050.3:p.Ala2738Val NC_000013.11:32363414:C:T p.(Ala2738Val) NC_000013.11:32363414:C:T p.(Ala2738Val) NC_000013.11:32363414:C:T Identity +NM_000038.6:c.3811T>C NP_000029.2:p.Phe1271Leu NC_000005.10:112839404:T:C p.(Phe1271Leu) NC_000005.10:112839404:T:C p.(Phe1271Leu) NC_000005.10:112839404:T:C Identity +NM_001353765.2:c.1223T>C NP_001340694.1:p.Val408Ala NC_000002.12:29193659:A:G p.(Val408Ala) NC_000002.12:29193659:A:G p.(Val408Ala) NC_000002.12:29193659:A:G Identity +NM_001365536.1:c.2834T>C NP_001352465.1:p.Leu945Pro NC_000002.12:166277022:A:G p.(Leu945Pro) NC_000002.12:166277022:A:G p.(Leu945Pro) NC_000002.12:166277022:A:G Identity +LRG_1234t1:c.6889G>C LRG_1234p1:p.Gly2297Arg NC_000018.10:45860223:C:G ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1234t1, alt_ac=LRG_1234t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1234t1 not found +NM_005159.5:c.892A>G NP_005150.1:p.Asn298Asp NC_000015.10:34791211:T:C p.(Asn298Asp) NC_000015.10:34791211:T:C p.(Asn298Asp) NC_000015.10:34791211:T:C Identity +NM_001166136.2:c.3120G>C NP_001159608.1:p.Gln1040His NC_000004.12:5574684:C:G p.(Gln1040His) NC_000004.12:5574684:C:G p.(Gln1040His) NC_000004.12:5574684:C:G Identity +NM_001127698.2:c.1660G>A NP_001121170.1:p.Glu554Lys NC_000005.10:148108804:G:A p.(Glu554Lys) NC_000005.10:148108804:G:A p.(Glu554Lys) NC_000005.10:148108804:G:A Identity +NM_001330174.3:c.862G>A NP_001317103.1:p.Gly288Arg NC_000010.11:123053099:G:A p.(Gly288Arg) NC_000010.11:123053099:G:A p.(Gly288Arg) NC_000010.11:123053099:G:A Identity +NM_000191.3:c.218C>A NP_000182.2:p.Thr73Asn NC_000001.11:23817509:G:T p.(Thr73Asn) NC_000001.11:23817509:G:T p.(Thr73Asn) NC_000001.11:23817509:G:T Identity +NM_021942.6:c.1055A>G NP_068761.4:p.Gln352Arg NC_000004.12:183680208:A:G p.(Gln352Arg) NC_000004.12:183680208:A:G p.(Gln352Arg) NC_000004.12:183680208:A:G Identity +NM_000093.5:c.4927C>T NP_000084.3:p.Gln1643Ter NC_000009.12:134824827:C:T p.(Gln1643Ter) NC_000009.12:134824827:C:T p.(Gln1643Ter) NC_000009.12:134824827:C:T Identity +NM_138694.4:c.11478C>G NP_619639.3:p.His3826Gln NC_000006.12:51638876:G:C p.(His3826Gln) NC_000006.12:51638876:G:C p.(His3826Gln) NC_000006.12:51638876:G:C Identity +NM_000384.3:c.7843C>T NP_000375.3:p.Pro2615Ser NC_000002.12:21009024:G:A p.(Pro2615Ser) NC_000002.12:21009024:G:A p.(Pro2615Ser) NC_000002.12:21009024:G:A Identity +NM_000143.4:c.1435G>T NP_000134.2:p.Gly479Ter NC_000001.11:241497925:C:A p.(Gly479Ter) NC_000001.11:241497925:C:A p.(Gly479Ter) NC_000001.11:241497925:C:A Identity +NM_000264.5:c.173C>T NP_000255.2:p.Ala58Val NC_000009.12:95508188:G:A p.(Ala58Val) NC_000009.12:95508188:G:A p.(Ala58Val) NC_000009.12:95508188:G:A Identity +NM_001321135.2:c.911C>T NP_001308064.1:p.Ser304Leu NC_000015.10:77035545:C:T p.(Ser304Leu) NC_000015.10:77035545:C:T p.(Ser304Leu) NC_000015.10:77035545:C:T Identity +NM_001289078.2:c.1082T>C NP_001276007.1:p.Val361Ala NC_000010.11:14909059:A:G p.(Val361Ala) NC_000010.11:14909059:A:G p.(Val361Ala) NC_000010.11:14909059:A:G Identity +NM_001304481.2:c.2350A>G NP_001291410.1:p.Met784Val NC_000012.12:32640326:A:G p.(Met784Val) NC_000012.12:32640326:A:G p.(Met784Val) NC_000012.12:32640326:A:G Identity +NM_000411.8:c.710T>G NP_000402.3:p.Leu237Arg NC_000021.9:36936734:A:C p.(Leu237Arg) NC_000021.9:36936734:A:C p.(Leu237Arg) NC_000021.9:36936734:A:C Identity +NM_000020.3:c.1190A>T NP_000011.2:p.Asp397Val NC_000012.12:51916176:A:T p.(Asp397Val) NC_000012.12:51916176:A:T p.(Asp397Val) NC_000012.12:51916176:A:T Identity +NM_000368.5:c.2360del NP_000359.1:p.Glu787fs NC_000009.12:132902635:T: p.(Glu787GlyfsTer20) NC_000009.12:132902635:T: p.(Glu787GlyfsTer20) NC_000009.12:132902635:T: Analogous +NM_000169.3:c.695T>C NP_000160.1:p.Ile232Thr NC_000023.11:101398890:A:G p.(Ile232Thr) NC_000023.11:101398890:A:G p.(Ile232Thr) NC_000023.11:101398890:A:G Identity +LRG_1366t1:c.434G>T LRG_1366p1:p.Arg145Leu NC_000016.10:2044720:C:A ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1366t1, alt_ac=LRG_1366t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1366t1 not found +NM_000138.5:c.5679T>G NP_000129.3:p.Asn1893Lys NC_000015.10:48446814:A:C p.(Asn1893Lys) NC_000015.10:48446814:A:C p.(Asn1893Lys) NC_000015.10:48446814:A:C Identity +NM_183075.3:c.1033_1034del NP_898898.1:p.Ile345fs NC_000004.12:107945508:TATAT:TAT p.(Ile345HisfsTer10) NC_000004.12:107945508:TATAT:TAT p.(Ile345HisfsTer10) NC_000004.12:107945511:AT: Analogous +NM_012222.3:c.1075G>A NP_036354.1:p.Ala359Thr NC_000001.11:45331762:C:T p.(Ala359Thr) NC_000001.11:45331762:C:T p.(Ala359Thr) NC_000001.11:45331762:C:T Identity +NM_001276289.2:c.1031C>T NP_001263218.1:p.Pro344Leu NC_000017.11:68530333:C:T p.(Pro344Leu) NC_000017.11:68530333:C:T p.(Pro344Leu) NC_000017.11:68530333:C:T Identity +LRG_1347t1:c.292C>A LRG_1347p1:p.His98Asn NC_000010.11:102396951:C:A ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found ERR:AlignmentMapper(tx_ac=LRG_1347t1, alt_ac=LRG_1347t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1347t1, alt_ac=LRG_1347t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found +NM_153240.5:c.1087_1090del NP_694972.3:p.Val363fs NC_000003.12:132713153:TAACTAA:TAA p.(Val363PhefsTer6) NC_000003.12:132713153:TAACTAA:TAA p.(Val363PhefsTer6) NC_000003.12:132713153:TAAC: Analogous +NM_001256182.2:c.5682dup NP_001243111.1:p.Arg1895fs NC_000016.10:89280859:GGGGG:GGGGGG p.(Arg1895GlnfsTer55) NC_000016.10:89280859:GGGGG:GGGGGG p.(Arg1895GlnfsTer55) ERR:SPDI Analogous +NM_001287424.2:c.214G>A NP_001274353.1:p.Ala72Thr NC_000019.10:33302305:C:T p.(Ala72Thr) NC_000019.10:33302305:C:T p.(Ala72Thr) NC_000019.10:33302305:C:T Identity +LRG_856t1:c.1765A>G LRG_856p1:p.Lys589Glu NC_000022.11:33283313:T:C ERR:Data provider error: ValueError: Transcript LRG_856t1 not found ERR:Data provider error: ValueError: Transcript LRG_856t1 not found ERR:AlignmentMapper(tx_ac=LRG_856t1, alt_ac=LRG_856t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_856t1, alt_ac=LRG_856t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_856t1 not found +NM_001199579.2:c.1412G>A NP_001186508.1:p.Arg471Gln NC_000022.11:38740273:C:T p.(Arg471Gln) NC_000022.11:38740273:C:T p.(Arg471Gln) NC_000022.11:38740273:C:T Identity +NM_001130823.3:c.1642G>A NP_001124295.1:p.Glu548Lys NC_000019.10:10154906:C:T p.(Glu548Lys) NC_000019.10:10154906:C:T p.(Glu548Lys) NC_000019.10:10154906:C:T Identity +NM_001558.4:c.16G>C NP_001549.2:p.Val6Leu NC_000011.10:117986482:G:C p.(Val6Leu) NC_000011.10:117986482:G:C p.(Val6Leu) NC_000011.10:117986482:G:C Identity +NM_001346599.2:c.1466T>C NP_001333528.1:p.Leu489Pro NC_000007.14:105563760:T:C p.(Leu489Pro) NC_000007.14:105563760:T:C p.(Leu489Pro) NC_000007.14:105563760:T:C Identity +NM_001308379.2:c.1255G>A NP_001295308.1:p.Glu419Lys NC_000003.12:50341462:C:T p.(Glu419Lys) NC_000003.12:50341462:C:T p.(Glu419Lys) NC_000003.12:50341462:C:T Identity +NM_175629.2:c.1490G>C NP_783328.1:p.Cys497Ser NC_000002.12:25245316:C:G p.(Cys497Ser) NC_000002.12:25245316:C:G p.(Cys497Ser) NC_000002.12:25245316:C:G Identity +NM_012327.6:c.2237T>G NP_036459.1:p.Ile746Arg NC_000018.10:62090521:A:C p.(Ile746Arg) NC_000018.10:62090521:A:C p.(Ile746Arg) NC_000018.10:62090521:A:C Identity +NM_001364440.2:c.1035A>G NP_001351369.1:p.Ile345Met NC_000005.10:7885831:A:G p.(Ile345Met) NC_000005.10:7885831:A:G p.(Ile345Met) NC_000005.10:7885831:A:G Identity +NM_001100.4:c.659A>T NP_001091.1:p.Tyr220Phe NC_000001.11:229432142:T:A p.(Tyr220Phe) NC_000001.11:229432142:T:A p.(Tyr220Phe) NC_000001.11:229432142:T:A Identity +NM_001378454.1:c.8763C>A NP_001365383.1:p.Cys2921Ter NC_000002.12:73490721:C:A p.(Cys2921Ter) NC_000002.12:73490721:C:A p.(Cys2921Ter) NC_000002.12:73490721:C:A Identity +NM_001256849.1:c.3125C>A NP_001243778.1:p.Ser1042Tyr NC_000019.10:50417175:C:A p.(Ser1042Tyr) NC_000019.10:50417175:C:A p.(Ser1042Tyr) NC_000019.10:50417175:C:A Identity +NM_024675.4:c.2855A>T NP_078951.2:p.Asp952Val NC_000016.10:23623109:T:A p.(Asp952Val) NC_000016.10:23623109:T:A p.(Asp952Val) NC_000016.10:23623109:T:A Identity +NM_145046.5:c.641C>T NP_659483.2:p.Ser214Leu NC_000019.10:16483966:G:A p.(Ser214Leu) NC_000019.10:16483966:G:A p.(Ser214Leu) NC_000019.10:16483966:G:A Identity +NM_007254.4:c.430A>G NP_009185.2:p.Asn144Asp NC_000019.10:49865194:T:C p.(Asn144Asp) NC_000019.10:49865194:T:C p.(Asn144Asp) NC_000019.10:49865194:T:C Identity +NM_017950.4:c.3290G>A NP_060420.2:p.Arg1097His NC_000017.11:80099635:G:A p.(Arg1097His) NC_000017.11:80099635:G:A p.(Arg1097His) NC_000017.11:80099635:G:A Identity +NM_001540.5:c.398A>G NP_001531.1:p.Tyr133Cys NC_000007.14:76303834:A:G p.(Tyr133Cys) NC_000007.14:76303834:A:G p.(Tyr133Cys) NC_000007.14:76303834:A:G Identity +NM_001285829.2:c.266T>C NP_001272758.1:p.Phe89Ser NC_000019.10:33301791:A:G p.(Phe89Ser) NC_000019.10:33301791:A:G p.(Phe89Ser) NC_000019.10:33301791:A:G Identity +NM_001369.3:c.3302T>C NP_001360.1:p.Val1101Ala NC_000005.10:13876777:A:G p.(Val1101Ala) NC_000005.10:13876777:A:G p.(Val1101Ala) NC_000005.10:13876777:A:G Identity +NM_001193306.2:c.205G>A NP_001180235.1:p.Val69Met NC_000019.10:51746789:C:T p.(Val69Met) NC_000019.10:51746789:C:T p.(Val69Met) NC_000019.10:51746789:C:T Identity +NM_001365999.1:c.7013G>A NP_001352928.1:p.Arg2338His NC_000001.11:43439739:G:A p.(Arg2338His) NC_000001.11:43439739:G:A p.(Arg2338His) NC_000001.11:43439739:G:A Identity +LRG_1203t1:c.536A>G LRG_1203p1:p.Gln179Arg NC_000002.12:9527868:T:C ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found ERR:AlignmentMapper(tx_ac=LRG_1203t1, alt_ac=LRG_1203t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1203t1, alt_ac=LRG_1203t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1203t1 not found +NM_001174098.2:c.719T>G NP_001167569.1:p.Phe240Cys NC_000010.11:71356188:T:G p.(Phe240Cys) NC_000010.11:71356188:T:G p.(Phe240Cys) NC_000010.11:71356188:T:G Identity +NM_001318194.2:c.116G>C NP_001305123.1:p.Arg39Pro NC_000016.10:2044708:C:G p.(Arg39Pro) NC_000016.10:2044708:C:G p.(Arg39Pro) NC_000016.10:2044708:C:G Identity +NM_001330758.2:c.1191G>C NP_001317687.1:p.Lys397Asn NC_000005.10:235269:G:C p.(Lys397Asn) NC_000005.10:235269:G:C p.(Lys397Asn) NC_000005.10:235269:G:C Identity +NM_015509.4:c.727A>G NP_056324.2:p.Thr243Ala NC_000012.12:8095650:A:G p.(Thr243Ala) NC_000012.12:8095650:A:G p.(Thr243Ala) NC_000012.12:8095650:A:G Identity +NM_024675.4:c.2749G>A NP_078951.2:p.Val917Ile NC_000016.10:23624093:C:T p.(Val917Ile) NC_000016.10:23624093:C:T p.(Val917Ile) NC_000016.10:23624093:C:T Identity +NM_001407863.1:c.4547T>G NP_001394792.1:p.Leu1516Arg NC_000017.11:43074332:A:C p.(Leu1516Arg) NC_000017.11:43074332:A:C p.(Leu1516Arg) NC_000017.11:43074332:A:C Identity +NM_058216.3:c.911G>T NP_478123.1:p.Ser304Ile NC_000017.11:58724045:G:T p.(Ser304Ile) NC_000017.11:58724045:G:T p.(Ser304Ile) NC_000017.11:58724045:G:T Identity +NM_001276696.3:c.20C>A NP_001263625.1:p.Ser7Tyr NC_000017.11:7676231:G:T p.(Ser7Tyr) NC_000017.11:7676231:G:T p.(Ser7Tyr) NC_000017.11:7676231:G:T Identity +NM_024675.4:c.1948G>A NP_078951.2:p.Glu650Lys NC_000016.10:23630205:C:T p.(Glu650Lys) NC_000016.10:23630205:C:T p.(Glu650Lys) NC_000016.10:23630205:C:T Identity +NM_000546.6:c.133C>G NP_000537.3:p.Leu45Val NC_000017.11:7676235:G:C p.(Leu45Val) NC_000017.11:7676235:G:C p.(Leu45Val) NC_000017.11:7676235:G:C Identity +NM_004370.6:c.5335C>T NP_004361.3:p.Arg1779Cys NC_000006.12:75137495:G:A p.(Arg1779Cys) NC_000006.12:75137495:G:A p.(Arg1779Cys) NC_000006.12:75137495:G:A Identity +NM_000264.5:c.3929G>A NP_000255.2:p.Gly1310Asp NC_000009.12:95447326:C:T p.(Gly1310Asp) NC_000009.12:95447326:C:T p.(Gly1310Asp) NC_000009.12:95447326:C:T Identity +NM_001144769.5:c.7031A>G NP_001138241.1:p.His2344Arg NC_000006.12:56572912:T:C p.(His2344Arg) NC_000006.12:56572912:T:C p.(His2344Arg) NC_000006.12:56572912:T:C Identity +NM_000245.4:c.1912A>T NP_000236.2:p.Ile638Leu NC_000007.14:116757485:A:T p.(Ile638Leu) NC_000007.14:116757485:A:T p.(Ile638Leu) NC_000007.14:116757485:A:T Identity +NM_139058.3:c.586G>C NP_620689.1:p.Gly196Arg NC_000023.11:25013408:C:G p.(Gly196Arg) NC_000023.11:25013408:C:G p.(Gly196Arg) NC_000023.11:25013408:C:G Identity +NM_001193640.2:c.2701C>T NP_001180569.1:p.Gln901Ter NC_000001.11:197434899:C:T p.(Gln901Ter) NC_000001.11:197434899:C:T p.(Gln901Ter) NC_000001.11:197434899:C:T Identity +NM_000038.6:c.104C>A NP_000029.2:p.Thr35Lys NC_000005.10:112754993:C:A p.(Thr35Lys) NC_000005.10:112754993:C:A p.(Thr35Lys) NC_000005.10:112754993:C:A Identity +NM_145045.5:c.659C>T NP_659482.3:p.Ala220Val NC_000019.10:11426737:G:A p.(Ala220Val) NC_000019.10:11426737:G:A p.(Ala220Val) NC_000019.10:11426737:G:A Identity +NM_000059.4:c.4220A>G NP_000050.3:p.Glu1407Gly NC_000013.11:32338574:A:G p.(Glu1407Gly) NC_000013.11:32338574:A:G p.(Glu1407Gly) NC_000013.11:32338574:A:G Identity +NM_006231.4:c.3812G>C NP_006222.2:p.Trp1271Ser NC_000012.12:132649498:C:G p.(Trp1271Ser) NC_000012.12:132649498:C:G p.(Trp1271Ser) NC_000012.12:132649498:C:G Identity +NM_000245.4:c.965T>C NP_000236.2:p.Val322Ala NC_000007.14:116700048:T:C p.(Val322Ala) NC_000007.14:116700048:T:C p.(Val322Ala) NC_000007.14:116700048:T:C Identity +NM_001005407.2:c.356T>C NP_001005407.1:p.Met119Thr NC_000016.10:1195027:T:C p.(Met119Thr) NC_000016.10:1195027:T:C p.(Met119Thr) NC_000016.10:1195027:T:C Identity +NM_000028.3:c.1615A>G NP_000019.2:p.Met539Val NC_000001.11:99879925:A:G p.(Met539Val) NC_000001.11:99879925:A:G p.(Met539Val) NC_000001.11:99879925:A:G Identity +NM_000335.5:c.3570G>A NP_000326.2:p.Trp1190Ter NC_000003.12:38575389:C:T p.(Trp1190Ter) NC_000003.12:38575389:C:T p.(Trp1190Ter) NC_000003.12:38575389:C:T Identity +NM_000433.4:c.692C>T NP_000424.2:p.Pro231Leu NC_000001.11:183569162:G:A p.(Pro231Leu) NC_000001.11:183569162:G:A p.(Pro231Leu) NC_000001.11:183569162:G:A Identity +LRG_1336t1:c.2317A>C LRG_1336p1:p.Ser773Arg NC_000001.11:160296095:T:G ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found ERR:AlignmentMapper(tx_ac=LRG_1336t1, alt_ac=LRG_1336t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1336t1, alt_ac=LRG_1336t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found +NM_001144769.5:c.6927G>T NP_001138241.1:p.Met2309Ile NC_000006.12:56573016:C:A p.(Met2309Ile) NC_000006.12:56573016:C:A p.(Met2309Ile) NC_000006.12:56573016:C:A Identity +NM_000059.4:c.6455C>G NP_000050.3:p.Ser2152Cys NC_000013.11:32340809:C:G p.(Ser2152Cys) NC_000013.11:32340809:C:G p.(Ser2152Cys) NC_000013.11:32340809:C:G Identity +NM_001285829.2:c.187C>A NP_001272758.1:p.Gln63Lys NC_000019.10:33301870:G:T p.(Gln63Lys) NC_000019.10:33301870:G:T p.(Gln63Lys) NC_000019.10:33301870:G:T Identity +NM_001277971.2:c.76A>C NP_001264900.1:p.Ile26Leu NC_000008.11:43103623:A:C p.(Ile26Leu) NC_000008.11:43103623:A:C p.(Ile26Leu) NC_000008.11:43103623:A:C Identity +NM_001127487.2:c.1492A>G NP_001120959.1:p.Lys498Glu NC_000007.14:128840102:A:G p.(Lys498Glu) NC_000007.14:128840102:A:G p.(Lys498Glu) NC_000007.14:128840102:A:G Identity +NM_001195573.1:c.4056C>G NP_001182502.1:p.Ser1352Arg NC_000014.9:95099929:G:C p.(Ser1352Arg) NC_000014.9:95099929:G:C p.(Ser1352Arg) NC_000014.9:95099929:G:C Identity +NM_000170.3:c.1762G>C NP_000161.2:p.Ala588Pro NC_000009.12:6587228:C:G p.(Ala588Pro) NC_000009.12:6587228:C:G p.(Ala588Pro) NC_000009.12:6587228:C:G Identity +NM_001145103.2:c.85G>A NP_001138575.1:p.Gly29Ser NC_000015.10:67164904:G:A p.(Gly29Ser) NC_000015.10:67164904:G:A p.(Gly29Ser) NC_000015.10:67164904:G:A Identity +NM_001185015.2:c.1274G>A NP_001171944.1:p.Cys425Tyr NC_000002.12:230186016:C:T p.(Cys425Tyr) NC_000002.12:230186016:C:T p.(Cys425Tyr) NC_000002.12:230186016:C:T Identity +NM_001293557.2:c.1A>G NP_001280486.1:p.Met1Val NC_000016.10:50699495:A:G p.(Met1Val) NC_000016.10:50699495:A:G p.Met1? NC_000016.10:50699495:A:G Identity +NM_001105243.2:c.617T>G NP_001098713.1:p.Phe206Cys NC_000023.11:100407980:A:C p.(Phe206Cys) NC_000023.11:100407980:A:C p.(Phe206Cys) NC_000023.11:100407980:A:C Identity +NM_001008844.3:c.5549A>C NP_001008844.1:p.Lys1850Thr NC_000006.12:7584607:A:C p.(Lys1850Thr) NC_000006.12:7584607:A:C p.(Lys1850Thr) NC_000006.12:7584607:A:C Identity +NM_003803.4:c.607A>G NP_003794.3:p.Thr203Ala NC_000018.10:3188911:T:C p.(Thr203Ala) NC_000018.10:3188911:T:C p.(Thr203Ala) NC_000018.10:3188911:T:C Identity +NM_001243766.2:c.7G>T NP_001230695.2:p.Asp3Tyr NC_000001.11:46197814:C:A p.(Asp3Tyr) NC_000001.11:46197814:C:A p.(Asp3Tyr) NC_000001.11:46197814:C:A Identity +NM_000138.5:c.6916C>T NP_000129.3:p.Arg2306Cys NC_000015.10:48428426:G:A p.(Arg2306Cys) NC_000015.10:48428426:G:A p.(Arg2306Cys) NC_000015.10:48428426:G:A Identity +NM_000663.5:c.64_66del NP_000654.2:p.Val22del NC_000016.10:8735800:TGGTG:TG p.(Val22del) NC_000016.10:8735800:TGGTG:TG p.(Val22del) NC_000016.10:8735802:GTG: Identity +NM_001036.6:c.7309C>T NP_001027.3:p.His2437Tyr NC_000015.10:33731578:C:T p.(His2437Tyr) NC_000015.10:33731578:C:T p.(His2437Tyr) NC_000015.10:33731578:C:T Identity +NM_002876.4:c.8G>A NP_002867.1:p.Gly3Glu NC_000017.11:58692650:G:A p.(Gly3Glu) NC_000017.11:58692650:G:A p.(Gly3Glu) NC_000017.11:58692650:G:A Identity +NM_001407954.1:c.2863A>T NP_001394883.1:p.Asn955Tyr NC_000017.11:43092331:T:A p.(Asn955Tyr) NC_000017.11:43092331:T:A p.(Asn955Tyr) NC_000017.11:43092331:T:A Identity +NM_001039476.3:c.665G>A NP_001034565.1:p.Arg222Gln NC_000016.10:89861:C:T p.(Arg222Gln) NC_000016.10:89861:C:T p.(Arg222Gln) NC_000016.10:89861:C:T Identity +NM_001081640.2:c.5321T>G NP_001075109.1:p.Met1774Arg NC_000008.11:47877765:A:C p.(Met1774Arg) NC_000008.11:47877765:A:C p.(Met1774Arg) NC_000008.11:47877765:A:C Identity +NM_000492.4:c.3473G>A NP_000483.3:p.Arg1158Gln NC_000007.14:117627525:G:A p.(Arg1158Gln) NC_000007.14:117627525:G:A p.(Arg1158Gln) NC_000007.14:117627525:G:A Identity +NM_000179.3:c.1843T>C NP_000170.1:p.Cys615Arg NC_000002.12:47799825:T:C p.(Cys615Arg) NC_000002.12:47799825:T:C p.(Cys615Arg) NC_000002.12:47799825:T:C Identity +NM_000215.4:c.2619G>T NP_000206.2:p.Gln873His NC_000019.10:17832579:C:A p.(Gln873His) NC_000019.10:17832579:C:A p.(Gln873His) NC_000019.10:17832579:C:A Identity +LRG_504t1:c.877G>A LRG_504p1:p.Val293Ile NC_000001.11:241506029:C:T ERR:Data provider error: ValueError: Transcript LRG_504t1 not found ERR:Data provider error: ValueError: Transcript LRG_504t1 not found ERR:AlignmentMapper(tx_ac=LRG_504t1, alt_ac=LRG_504t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_504t1, alt_ac=LRG_504t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_504t1 not found +NM_001008540.2:c.490G>A NP_001008540.1:p.Val164Ile NC_000002.12:136115449:C:T p.(Val164Ile) NC_000002.12:136115449:C:T p.(Val164Ile) NC_000002.12:136115449:C:T Identity +NM_001036.6:c.5219A>G NP_001027.3:p.Asp1740Gly NC_000015.10:33662748:A:G p.(Asp1740Gly) NC_000015.10:33662748:A:G p.(Asp1740Gly) NC_000015.10:33662748:A:G Identity +NM_001271999.2:c.4675A>T NP_001258928.1:p.Ile1559Leu NC_000001.11:62504691:T:A p.(Ile1559Leu) NC_000001.11:62504691:T:A p.(Ile1559Leu) NC_000001.11:62504691:T:A Identity +NM_001173479.2:c.608T>C NP_001166950.1:p.Leu203Pro NC_000023.11:63678366:A:G p.(Leu203Pro) NC_000023.11:63678366:A:G p.(Leu203Pro) NC_000023.11:63678366:A:G Identity +NM_000368.5:c.779C>T NP_000359.1:p.Ala260Val NC_000009.12:132912415:G:A p.(Ala260Val) NC_000009.12:132912415:G:A p.(Ala260Val) NC_000009.12:132912415:G:A Identity +NM_001135040.3:c.2823T>G NP_001128512.1:p.Ile941Met NC_000002.12:74365895:A:C p.(Ile941Met) NC_000002.12:74365895:A:C p.(Ile941Met) NC_000002.12:74365895:A:C Identity +NM_015139.3:c.836A>G NP_055954.1:p.Tyr279Cys NC_000001.11:67020408:T:C p.(Tyr279Cys) NC_000001.11:67020408:T:C p.(Tyr279Cys) NC_000001.11:67020408:T:C Identity +NM_001014431.2:c.745C>T NP_001014431.1:p.Arg249Trp NC_000014.9:104773537:G:A p.(Arg249Trp) NC_000014.9:104773537:G:A p.(Arg249Trp) NC_000014.9:104773537:G:A Identity +NM_000920.4:c.440G>A NP_000911.2:p.Arg147His NC_000011.10:66871361:C:T p.(Arg147His) NC_000011.10:66871361:C:T p.(Arg147His) NC_000011.10:66871361:C:T Identity +NM_001031714.4:c.3590C>T NP_001026884.3:p.Ala1197Val NC_000014.9:104714751:C:T p.(Ala1197Val) NC_000014.9:104714751:C:T p.(Ala1197Val) NC_000014.9:104714751:C:T Identity +NM_005677.4:c.116G>T NP_005668.2:p.Ser39Ile NC_000003.12:15489627:C:A p.(Ser39Ile) NC_000003.12:15489627:C:A p.(Ser39Ile) NC_000003.12:15489627:C:A Identity +NM_030793.5:c.1996G>A NP_110420.3:p.Glu666Lys NC_000005.10:148427289:G:A p.(Glu666Lys) NC_000005.10:148427289:G:A p.(Glu666Lys) NC_000005.10:148427289:G:A Identity +NM_002439.5:c.3368C>G NP_002430.3:p.Thr1123Arg NC_000005.10:80875815:C:G p.(Thr1123Arg) NC_000005.10:80875815:C:G p.(Thr1123Arg) NC_000005.10:80875815:C:G Identity +NM_002439.5:c.212T>C NP_002430.3:p.Phe71Ser NC_000005.10:80654938:T:C p.(Phe71Ser) NC_000005.10:80654938:T:C p.(Phe71Ser) NC_000005.10:80654938:T:C Identity +NM_004304.5:c.709_711del NP_004295.2:p.Ser237del NC_000002.12:29717653:AGAAG:AG p.(Ser237del) NC_000002.12:29717653:AGAAG:AG p.(Ser237del) NC_000002.12:29717653:AGA: Identity +NM_001166292.2:c.2361C>G NP_001159764.1:p.Asn787Lys NC_000001.11:44827411:G:C p.(Asn787Lys) NC_000001.11:44827411:G:C p.(Asn787Lys) NC_000001.11:44827411:G:C Identity +NM_001083606.3:c.3490_3491delinsTT NP_001077075.1:p.Pro1164Phe NC_000009.12:95447311:GG:AA p.(Pro1164Phe) NC_000009.12:95447311:GG:AA p.(Pro1164Phe) NC_000009.12:95447311:GG:AA Identity +NM_000553.6:c.1609G>T NP_000544.2:p.Val537Phe NC_000008.11:31088921:G:T p.(Val537Phe) NC_000008.11:31088921:G:T p.(Val537Phe) NC_000008.11:31088921:G:T Identity +LRG_1191t1:c.238A>T LRG_1191p1:p.Lys80Ter NC_000020.11:10672849:T:A ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1191t1, alt_ac=LRG_1191t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1191t1 not found +NM_001849.4:c.1447C>T NP_001840.3:p.Pro483Ser NC_000021.9:46121111:C:T p.(Pro483Ser) NC_000021.9:46121111:C:T p.(Pro483Ser) NC_000021.9:46121111:C:T Identity +NM_006231.4:c.4018A>G NP_006222.2:p.Ser1340Gly NC_000012.12:132649059:T:C p.(Ser1340Gly) NC_000012.12:132649059:T:C p.(Ser1340Gly) NC_000012.12:132649059:T:C Identity +NM_000152.5:c.1943G>T NP_000143.2:p.Gly648Val NC_000017.11:80112929:G:T p.(Gly648Val) NC_000017.11:80112929:G:T p.(Gly648Val) NC_000017.11:80112929:G:T Identity +NM_024675.4:c.2623A>G NP_078951.2:p.Met875Val NC_000016.10:23626360:T:C p.(Met875Val) NC_000016.10:23626360:T:C p.(Met875Val) NC_000016.10:23626360:T:C Identity +NM_001165963.4:c.2860G>C NP_001159435.1:p.Glu954Gln NC_000002.12:166037861:C:G p.(Glu954Gln) NC_000002.12:166037861:C:G p.(Glu954Gln) NC_000002.12:166037861:C:G Identity +NM_001164507.2:c.18542T>C NP_001157979.2:p.Ile6181Thr NC_000002.12:151563859:A:G p.(Ile6181Thr) NC_000002.12:151563859:A:G p.(Ile6181Thr) NC_000002.12:151563859:A:G Identity +LRG_1336t1:c.509A>G LRG_1336p1:p.Lys170Arg NC_000001.11:160325639:T:C ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found ERR:AlignmentMapper(tx_ac=LRG_1336t1, alt_ac=LRG_1336t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1336t1, alt_ac=LRG_1336t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1336t1 not found +LRG_1222t1:c.307G>A LRG_1222p1:p.Ala103Thr NC_000017.11:45289254:C:T ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found ERR:AlignmentMapper(tx_ac=LRG_1222t1, alt_ac=LRG_1222t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1222t1, alt_ac=LRG_1222t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1222t1 not found +NM_001289807.1:c.287A>G NP_001276736.1:p.Asp96Gly NC_000011.10:111910363:T:C p.(Asp96Gly) NC_000011.10:111910363:T:C p.(Asp96Gly) NC_000011.10:111910363:T:C Identity +NM_001048171.2:c.916C>T NP_001041636.2:p.Pro306Ser NC_000001.11:45331846:G:A p.(Pro306Ser) NC_000001.11:45331846:G:A p.(Pro306Ser) NC_000001.11:45331846:G:A Identity +NM_001166280.2:c.433A>G NP_001159752.1:p.Met145Val NC_000009.12:110695476:A:G p.(Met145Val) NC_000009.12:110695476:A:G p.(Met145Val) NC_000009.12:110695476:A:G Identity +NM_000246.4:c.2758T>C NP_000237.2:p.Phe920Leu NC_000016.10:10909128:T:C p.(Phe920Leu) NC_000016.10:10909128:T:C p.(Phe920Leu) NC_000016.10:10909128:T:C Identity +NM_000179.3:c.2668G>A NP_000170.1:p.Val890Ile NC_000002.12:47800650:G:A p.(Val890Ile) NC_000002.12:47800650:G:A p.(Val890Ile) NC_000002.12:47800650:G:A Identity +NM_001172509.2:c.1195C>T NP_001165980.1:p.Arg399Cys NC_000002.12:199328888:G:A p.(Arg399Cys) NC_000002.12:199328888:G:A p.(Arg399Cys) NC_000002.12:199328888:G:A Identity +NM_001130823.3:c.1196A>G NP_001124295.1:p.Asn399Ser NC_000019.10:10159741:T:C p.(Asn399Ser) NC_000019.10:10159741:T:C p.(Asn399Ser) NC_000019.10:10159741:T:C Identity +NM_001079821.3:c.1478A>G NP_001073289.2:p.Gln493Arg NC_000001.11:247424926:A:G p.(Gln493Arg) NC_000001.11:247424926:A:G p.(Gln493Arg) NC_000001.11:247424926:A:G Identity +NM_001024688.3:c.1007C>A NP_001019859.1:p.Ser336Ter NC_000008.11:89955426:G:T p.(Ser336Ter) NC_000008.11:89955426:G:T p.(Ser336Ter) NC_000008.11:89955426:G:T Identity +NM_001366624.2:c.430T>C NP_001353553.1:p.Cys144Arg NC_000013.11:76995991:T:C p.(Cys144Arg) NC_000013.11:76995991:T:C p.(Cys144Arg) NC_000013.11:76995991:T:C Identity +NM_000435.3:c.1066G>A NP_000426.2:p.Val356Ile NC_000019.10:15189398:C:T p.(Val356Ile) NC_000019.10:15189398:C:T p.(Val356Ile) NC_000019.10:15189398:C:T Identity +NM_001199107.2:c.1426G>A NP_001186036.1:p.Ala476Thr NC_000016.10:2500390:G:A p.(Ala476Thr) NC_000016.10:2500390:G:A p.(Ala476Thr) NC_000016.10:2500390:G:A Identity +NM_001252678.2:c.110G>A NP_001239607.1:p.Gly37Glu NC_000015.10:72727977:G:A p.(Gly37Glu) NC_000015.10:72727977:G:A p.(Gly37Glu) NC_000015.10:72727977:G:A Identity +NM_000426.4:c.6207C>A NP_000417.3:p.Tyr2069Ter NC_000006.12:129440936:C:A p.(Tyr2069Ter) NC_000006.12:129440936:C:A p.(Tyr2069Ter) NC_000006.12:129440936:C:A Identity +NM_001165963.4:c.2486A>T NP_001159435.1:p.Gln829Leu NC_000002.12:166039525:T:A p.(Gln829Leu) NC_000002.12:166039525:T:A p.(Gln829Leu) NC_000002.12:166039525:T:A Identity +NM_004329.3:c.1096A>C NP_004320.2:p.Lys366Gln NC_000010.11:86919398:A:C p.(Lys366Gln) NC_000010.11:86919398:A:C p.(Lys366Gln) NC_000010.11:86919398:A:C Identity +NM_001354263.2:c.3354G>C NP_001341192.1:p.Arg1118Ser NC_000009.12:137817438:G:C p.(Arg1118Ser) NC_000009.12:137817438:G:C p.(Arg1118Ser) NC_000009.12:137817438:G:C Identity +NM_000051.4:c.1304T>G NP_000042.3:p.Leu435Ter NC_000011.10:108250768:T:G p.(Leu435Ter) NC_000011.10:108250768:T:G p.(Leu435Ter) NC_000011.10:108250768:T:G Identity +NM_001290307.3:c.1368G>C NP_001277236.1:p.Gln456His NC_000005.10:138904419:G:C p.(Gln456His) NC_000005.10:138904419:G:C p.(Gln456His) NC_000005.10:138904419:G:C Identity +LRG_1235t1:c.2857G>A LRG_1235p1:p.Asp953Asn NC_000002.12:162267519:C:T ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1235t1, alt_ac=LRG_1235t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1235t1 not found +NM_001256850.1:c.97826C>A NP_001243779.1:p.Thr32609Lys NC_000002.12:178533865:G:T p.(Thr32609Lys) NC_000002.12:178533865:G:T p.(Thr32609Lys) NC_000002.12:178533865:G:T Identity +NM_001407128.1:c.410dup NP_001394057.1:p.Pro138Alafs NC_000003.12:30650379:AAAAAAAAAA:AAAAAAAAAAA p.(Pro138AlafsTer3) NC_000003.12:30650379:AAAAAAAAAA:AAAAAAAAAAA p.(Pro138AlafsTer3) ERR:SPDI Analogous +NM_002506.3:c.145C>T NP_002497.2:p.Arg49Cys NC_000001.11:115286650:G:A p.(Arg49Cys) NC_000001.11:115286650:G:A p.(Arg49Cys) NC_000001.11:115286650:G:A Identity +NM_001282625.2:c.191C>A NP_001269554.1:p.Thr64Asn NC_000001.11:156115108:C:A p.(Thr64Asn) NC_000001.11:156115108:C:A p.(Thr64Asn) NC_000001.11:156115108:C:A Identity +NM_032957.5:c.448A>G NP_116575.3:p.Thr150Ala NC_000020.11:63662525:A:G p.(Thr150Ala) NC_000020.11:63662525:A:G p.(Thr150Ala) NC_000020.11:63662525:A:G Identity +NM_012327.6:c.781T>A NP_036459.1:p.Ser261Thr NC_000018.10:62146994:A:T p.(Ser261Thr) NC_000018.10:62146994:A:T p.(Ser261Thr) NC_000018.10:62146994:A:T Identity +NM_013382.7:c.346C>T NP_037514.2:p.Leu116Phe NC_000014.9:77306428:G:A p.(Leu116Phe) NC_000014.9:77306428:G:A p.(Leu116Phe) NC_000014.9:77306428:G:A Identity +NM_001160147.2:c.184G>A NP_001153619.1:p.Glu62Lys NC_000014.9:53152914:C:T p.(Glu62Lys) NC_000014.9:53152914:C:T p.(Glu62Lys) NC_000014.9:53152914:C:T Identity +NM_001378120.1:c.19T>C NP_001365049.1:p.Cys7Arg NC_000002.12:148458776:T:C p.(Cys7Arg) NC_000002.12:148458776:T:C p.(Cys7Arg) NC_000002.12:148458776:T:C Identity +NM_001349253.2:c.1621G>A NP_001336182.1:p.Glu541Lys NC_000003.12:38904085:C:T p.(Glu541Lys) NC_000003.12:38904085:C:T p.(Glu541Lys) NC_000003.12:38904085:C:T Identity +NM_024529.5:c.467G>A NP_078805.3:p.Arg156His NC_000001.11:193138127:G:A p.(Arg156His) NC_000001.11:193138127:G:A p.(Arg156His) NC_000001.11:193138127:G:A Identity +NM_015180.6:c.18085A>G NP_055995.4:p.Lys6029Glu NC_000014.9:64202846:A:G p.(Lys6029Glu) NC_000014.9:64202846:A:G p.(Lys6029Glu) NC_000014.9:64202846:A:G Identity +NM_001377486.1:c.855G>C NP_001364415.1:p.Glu285Asp NC_000016.10:81365469:G:C p.(Glu285Asp) NC_000016.10:81365469:G:C p.(Glu285Asp) NC_000016.10:81365469:G:C Identity +NM_024642.5:c.11G>A NP_078918.3:p.Arg4His NC_000009.12:98807708:G:A p.(Arg4His) NC_000009.12:98807708:G:A p.(Arg4His) NC_000009.12:98807708:G:A Identity +NM_001035511.3:c.13T>A NP_001030588.1:p.Leu5Met NC_000001.11:161314417:T:A p.(Leu5Met) NC_000001.11:161314417:T:A p.(Leu5Met) NC_000001.11:161314417:T:A Identity +NM_001126132.3:c.139G>A NP_001119604.1:p.Val47Met NC_000019.10:55141909:C:T p.(Val47Met) NC_000019.10:55141909:C:T p.(Val47Met) NC_000019.10:55141909:C:T Identity +NM_001008844.3:c.3565G>A NP_001008844.1:p.Glu1189Lys NC_000006.12:7579754:G:A p.(Glu1189Lys) NC_000006.12:7579754:G:A p.(Glu1189Lys) NC_000006.12:7579754:G:A Identity +NM_000252.3:c.233A>T NP_000243.1:p.Asp78Val NC_000023.11:150614589:A:T p.(Asp78Val) NC_000023.11:150614589:A:T p.(Asp78Val) NC_000023.11:150614589:A:T Identity +NM_004656.4:c.898_917del NP_004647.1:p.Arg300fs NC_000003.12:52405778:TCAGAGGCTGCAGGGGCCCT: p.(Arg300GlyfsTer91) NC_000003.12:52405778:TCAGAGGCTGCAGGGGCCCT: p.(Arg300GlyfsTer91) NC_000003.12:52405778:TCAGAGGCTGCAGGGGCCCT: Analogous +NM_001258395.2:c.473C>T NP_001245324.1:p.Ala158Val NC_000017.11:44902560:C:T p.(Ala158Val) NC_000017.11:44902560:C:T p.(Ala158Val) NC_000017.11:44902560:C:T Identity +NM_001363813.1:c.566T>A NP_001350742.1:p.Met189Lys NC_000017.11:65558054:A:T p.(Met189Lys) NC_000017.11:65558054:A:T p.(Met189Lys) NC_000017.11:65558054:A:T Identity +NM_000059.4:c.5312G>C NP_000050.3:p.Gly1771Ala NC_000013.11:32339666:G:C p.(Gly1771Ala) NC_000013.11:32339666:G:C p.(Gly1771Ala) NC_000013.11:32339666:G:C Identity +NM_001173479.2:c.459G>A NP_001166950.1:p.Met153Ile NC_000023.11:63678515:C:T p.(Met153Ile) NC_000023.11:63678515:C:T p.(Met153Ile) NC_000023.11:63678515:C:T Identity +NM_001257281.2:c.700A>G NP_001244210.1:p.Lys234Glu NC_000002.12:232130716:A:G p.(Lys234Glu) NC_000002.12:232130716:A:G p.(Lys234Glu) NC_000002.12:232130716:A:G Identity +NM_000081.4:c.8438C>A NP_000072.2:p.Thr2813Lys NC_000001.11:235734579:G:T p.(Thr2813Lys) NC_000001.11:235734579:G:T p.(Thr2813Lys) NC_000001.11:235734579:G:T Identity +NM_001844.5:c.719G>A NP_001835.3:p.Gly240Asp NC_000012.12:47995297:C:T p.(Gly240Asp) NC_000012.12:47995297:C:T p.(Gly240Asp) NC_000012.12:47995297:C:T Identity +NM_001127487.2:c.1861_1885dup NP_001120959.1:p.Arg629fs NC_000007.14:128841215:CAAGGGGGATGGCTCCTGCGATGTGC:CAAGGGGGATGGCTCCTGCGATGTGCAAGGGGGATGGCTCCTGCGATGTGC p.(Arg629GlnfsTer25) NC_000007.14:128841215:CAAGGGGGATGGCTCCTGCGATGTGC:CAAGGGGGATGGCTCCTGCGATGTGCAAGGGGGATGGCTCCTGCGATGTGC p.(Arg629GlnfsTer25) ERR:SPDI Analogous +NM_001145152.2:c.1087G>T NP_001138624.1:p.Ala363Ser NC_000008.11:17286394:G:T p.(Ala363Ser) NC_000008.11:17286394:G:T p.(Ala363Ser) NC_000008.11:17286394:G:T Identity +NM_015164.4:c.754G>A NP_055979.2:p.Ala252Thr NC_000001.11:15725357:G:A p.(Ala252Thr) NC_000001.11:15725357:G:A p.(Ala252Thr) NC_000001.11:15725357:G:A Identity +NM_000137.4:c.407A>G NP_000128.1:p.Asn136Ser NC_000015.10:80162287:A:G p.(Asn136Ser) NC_000015.10:80162287:A:G p.(Asn136Ser) NC_000015.10:80162287:A:G Identity +NM_001204824.2:c.487G>A NP_001191753.1:p.Glu163Lys NC_000008.11:132175538:C:T p.(Glu163Lys) NC_000008.11:132175538:C:T p.(Glu163Lys) NC_000008.11:132175538:C:T Identity +NM_001083962.2:c.224C>T NP_001077431.1:p.Thr75Ile NC_000018.10:55461098:G:A p.(Thr75Ile) NC_000018.10:55461098:G:A p.(Thr75Ile) NC_000018.10:55461098:G:A Identity +NM_001350879.1:c.371C>T NP_001337808.1:p.Thr124Ile NC_000007.14:144591552:G:A p.(Thr124Ile) NC_000007.14:144591552:G:A p.(Thr124Ile) NC_000007.14:144591552:G:A Identity +NM_001370085.1:c.601G>A NP_001357014.1:p.Gly201Arg NC_000020.11:763969:C:T p.(Gly201Arg) NC_000020.11:763969:C:T p.(Gly201Arg) NC_000020.11:763969:C:T Identity +NM_000360.4:c.32C>A NP_000351.2:p.Ala11Asp NC_000011.10:2171754:G:T p.(Ala11Asp) NC_000011.10:2171754:G:T p.(Ala11Asp) NC_000011.10:2171754:G:T Identity +NM_001282948.2:c.6887C>T NP_001269877.1:p.Thr2296Ile NC_000010.11:63168534:G:A p.(Thr2296Ile) NC_000010.11:63168534:G:A p.(Thr2296Ile) NC_000010.11:63168534:G:A Identity +NM_000548.5:c.1239A>T NP_000539.2:p.Arg413Ser NC_000016.10:2061989:A:T p.(Arg413Ser) NC_000016.10:2061989:A:T p.(Arg413Ser) NC_000016.10:2061989:A:T Identity +NM_001195573.1:c.4405C>T NP_001182502.1:p.Leu1469Phe NC_000014.9:95096514:G:A p.(Leu1469Phe) NC_000014.9:95096514:G:A p.(Leu1469Phe) NC_000014.9:95096514:G:A Identity +NM_000465.4:c.76A>C NP_000456.2:p.Met26Leu NC_000002.12:214809493:T:G p.(Met26Leu) NC_000002.12:214809493:T:G p.(Met26Leu) NC_000002.12:214809493:T:G Identity +LRG_1313t1:c.911T>A LRG_1313p1:p.Val304Glu NC_000011.10:613531:A:T ERR:Data provider error: ValueError: Transcript LRG_1313t1 not found ERR:Data provider error: ValueError: Transcript LRG_1313t1 not found ERR:AlignmentMapper(tx_ac=LRG_1313t1, alt_ac=LRG_1313t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1313t1, alt_ac=LRG_1313t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1313t1 not found +NM_001110556.2:c.2614G>A NP_001104026.1:p.Ala872Thr NC_000023.11:154362283:C:T p.(Ala872Thr) NC_000023.11:154362283:C:T p.(Ala872Thr) NC_000023.11:154362283:C:T Identity +NM_001244008.2:c.3935C>A NP_001230937.1:p.Ser1312Tyr NC_000002.12:240737134:G:T p.(Ser1312Tyr) NC_000002.12:240737134:G:T p.(Ser1312Tyr) NC_000002.12:240737134:G:T Identity +NM_000135.4:c.86G>T NP_000126.2:p.Arg29Met NC_000016.10:89815979:C:A p.(Arg29Met) NC_000016.10:89815979:C:A p.(Arg29Met) NC_000016.10:89815979:C:A Identity +NM_001005407.2:c.5114CCA[1] NP_001005407.1:p.Thr1706del NC_000016.10:1215333:CCACCA:CCA p.(Thr1706del) NC_000016.10:1215333:C:CCA ERR:Parse ERR:Parse Identity +NM_001305275.2:c.2696C>T NP_001292204.1:p.Ala899Val NC_000001.11:1045978:C:T p.(Ala899Val) NC_000001.11:1045978:C:T p.(Ala899Val) NC_000001.11:1045978:C:T Identity +NM_000109.4:c.3246G>T NP_000100.3:p.Gln1082His NC_000023.11:32464591:C:A p.(Gln1082His) NC_000023.11:32464591:C:A p.(Gln1082His) NC_000023.11:32464591:C:A Identity +NM_004104.5:c.6539G>A NP_004095.4:p.Arg2180Gln NC_000017.11:82081219:C:T p.(Arg2180Gln) NC_000017.11:82081219:C:T p.(Arg2180Gln) NC_000017.11:82081219:C:T Identity +NM_001305275.2:c.4200C>G NP_001292204.1:p.Phe1400Leu NC_000001.11:1048960:C:G p.(Phe1400Leu) NC_000001.11:1048960:C:G p.(Phe1400Leu) NC_000001.11:1048960:C:G Identity +NM_000309.5:c.454C>T NP_000300.1:p.Arg152Cys NC_000001.11:161168109:C:T p.(Arg152Cys) NC_000001.11:161168109:C:T p.(Arg152Cys) NC_000001.11:161168109:C:T Identity +NM_000038.6:c.3877dup NP_000029.2:p.Thr1293fs NC_000005.10:112839470:A:AA p.(Thr1293AsnfsTer8) NC_000005.10:112839470:A:AA p.(Thr1293AsnfsTer8) ERR:SPDI Analogous +NM_001353229.2:c.1494del NP_001340158.1:p.Thr499fs NC_000017.11:17215082:GGGG:GGG p.(Thr499ProfsTer3) NC_000017.11:17215082:GGGG:GGG p.(Thr499ProfsTer3) NC_000017.11:17215082:G: Analogous +NM_001330174.3:c.859A>G NP_001317103.1:p.Met287Val NC_000010.11:123053096:A:G p.(Met287Val) NC_000010.11:123053096:A:G p.(Met287Val) NC_000010.11:123053096:A:G Identity +NM_001316690.1:c.702C>G NP_001303619.1:p.His234Gln NC_000008.11:60742133:C:G p.(His234Gln) NC_000008.11:60742133:C:G p.(His234Gln) NC_000008.11:60742133:C:G Identity +LRG_1317t1:c.2713G>A LRG_1317p1:p.Glu905Lys NC_000002.12:32235469:C:T ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1317t1, alt_ac=LRG_1317t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1317t1 not found +NM_004370.6:c.2798G>A NP_004361.3:p.Arg933His NC_000006.12:75165691:C:T p.(Arg933His) NC_000006.12:75165691:C:T p.(Arg933His) NC_000006.12:75165691:C:T Identity +NM_000965.5:c.851C>T NP_000956.2:p.Thr284Ile NC_000003.12:25593566:C:T p.(Thr284Ile) NC_000003.12:25593566:C:T p.(Thr284Ile) NC_000003.12:25593566:C:T Identity +NM_001605.3:c.1420C>T NP_001596.2:p.Arg474Trp NC_000016.10:70265029:G:A p.(Arg474Trp) NC_000016.10:70265029:G:A p.(Arg474Trp) NC_000016.10:70265029:G:A Identity +NM_001160302.2:c.768C>G NP_001153774.1:p.Phe256Leu NC_000021.9:32694248:G:C p.(Phe256Leu) NC_000021.9:32694248:G:C p.(Phe256Leu) NC_000021.9:32694248:G:C Identity +NM_001407752.1:c.2888C>T NP_001394681.1:p.Pro963Leu NC_000017.11:43092501:G:A p.(Pro963Leu) NC_000017.11:43092501:G:A p.(Pro963Leu) NC_000017.11:43092501:G:A Identity +NM_006158.5:c.1196G>A NP_006149.2:p.Arg399Gln NC_000008.11:24953768:C:T p.(Arg399Gln) NC_000008.11:24953768:C:T p.(Arg399Gln) NC_000008.11:24953768:C:T Identity +NM_001322902.2:c.503G>A NP_001309831.1:p.Gly168Asp NC_000020.11:10299362:G:A p.(Gly168Asp) NC_000020.11:10299362:G:A p.(Gly168Asp) NC_000020.11:10299362:G:A Identity +NM_000136.3:c.1430_1431del NP_000127.2:p.Thr477fs NC_000009.12:95107167:TGTGT:TGT p.(Thr477ArgfsTer40) NC_000009.12:95107167:TGTGT:TGT p.(Thr477ArgfsTer40) NC_000009.12:95107167:TG: Analogous +NM_001080.3:c.621del NP_001071.1:p.Ser208fs NC_000006.12:24504876:CCCC:CCC p.(Ser208ValfsTer3) NC_000006.12:24504876:CCCC:CCC p.(Ser208ValfsTer3) NC_000006.12:24504879:C: Analogous +NM_000109.4:c.139G>A NP_000100.3:p.Glu47Lys NC_000023.11:32849750:C:T p.(Glu47Lys) NC_000023.11:32849750:C:T p.(Glu47Lys) NC_000023.11:32849750:C:T Identity +NM_000245.4:c.50C>T NP_000236.2:p.Thr17Ile NC_000007.14:116699133:C:T p.(Thr17Ile) NC_000007.14:116699133:C:T p.(Thr17Ile) NC_000007.14:116699133:C:T Identity +NM_001040113.2:c.4081G>A NP_001035202.1:p.Glu1361Lys NC_000016.10:15724702:C:T p.(Glu1361Lys) NC_000016.10:15724702:C:T p.(Glu1361Lys) NC_000016.10:15724702:C:T Identity +NM_001127487.2:c.5795T>G NP_001120959.1:p.Val1932Gly NC_000007.14:128852641:T:G p.(Val1932Gly) NC_000007.14:128852641:T:G p.(Val1932Gly) NC_000007.14:128852641:T:G Identity +NM_024589.3:c.308G>A NP_078865.1:p.Arg103Gln NC_000016.10:4800525:C:T p.(Arg103Gln) NC_000016.10:4800525:C:T p.(Arg103Gln) NC_000016.10:4800525:C:T Identity +LRG_1221t1:c.1666_1668del LRG_1221p1:p.Glu556del NC_000018.10:58741926:GAG: ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found ERR:AlignmentMapper(tx_ac=LRG_1221t1, alt_ac=LRG_1221t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1221t1, alt_ac=LRG_1221t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1221t1 not found +NM_001148.6:c.10453G>A NP_001139.3:p.Ala3485Thr NC_000004.12:113359070:G:A p.(Ala3485Thr) NC_000004.12:113359070:G:A p.(Ala3485Thr) NC_000004.12:113359070:G:A Identity +NM_002292.4:c.2336G>A NP_002283.3:p.Gly779Asp NC_000003.12:49125974:C:T p.(Gly779Asp) NC_000003.12:49125974:C:T p.(Gly779Asp) NC_000003.12:49125974:C:T Identity +NM_001128844.3:c.4067G>A NP_001122316.1:p.Arg1356Gln NC_000019.10:11035028:G:A p.(Arg1356Gln) NC_000019.10:11035028:G:A p.(Arg1356Gln) NC_000019.10:11035028:G:A Identity +NM_000465.4:c.868G>A NP_000456.2:p.Asp290Asn NC_000002.12:214781005:C:T p.(Asp290Asn) NC_000002.12:214781005:C:T p.(Asp290Asn) NC_000002.12:214781005:C:T Identity +NM_001271620.2:c.3005A>C NP_001258549.1:p.Lys1002Thr NC_000016.10:49635966:T:G p.(Lys1002Thr) NC_000016.10:49635966:T:G p.(Lys1002Thr) NC_000016.10:49635966:T:G Identity +NM_001003800.2:c.1195C>T NP_001003800.1:p.Arg399Cys NC_000009.12:92719449:G:A p.(Arg399Cys) NC_000009.12:92719449:G:A p.(Arg399Cys) NC_000009.12:92719449:G:A Identity +NM_000051.4:c.3250C>T NP_000042.3:p.Gln1084Ter NC_000011.10:108272817:C:T p.(Gln1084Ter) NC_000011.10:108272817:C:T p.(Gln1084Ter) NC_000011.10:108272817:C:T Identity +NM_004204.5:c.527T>C NP_004195.2:p.Phe176Ser NC_000016.10:574600:T:C p.(Phe176Ser) NC_000016.10:574600:T:C p.(Phe176Ser) NC_000016.10:574600:T:C Identity +NM_001130455.2:c.5062T>C NP_001123927.1:p.Ser1688Pro NC_000002.12:71665162:T:C p.(Ser1688Pro) NC_000002.12:71665162:T:C p.(Ser1688Pro) NC_000002.12:71665162:T:C Identity +NM_033087.4:c.346C>G NP_149078.1:p.Gln116Glu NC_000009.12:99221548:G:C p.(Gln116Glu) NC_000009.12:99221548:G:C p.(Gln116Glu) NC_000009.12:99221548:G:C Identity +NM_015346.4:c.4492A>C NP_056161.2:p.Ile1498Leu NC_000014.9:67781409:T:G p.(Ile1498Leu) NC_000014.9:67781409:T:G p.(Ile1498Leu) NC_000014.9:67781409:T:G Identity +NM_001318194.2:c.61_62del NP_001305123.1:p.Ser21fs NC_000016.10:2044762:GAGAG:GAG p.(Ser21GlnfsTer30) NC_000016.10:2044762:GAGAG:GAG p.(Ser21GlnfsTer30) NC_000016.10:2044762:GA: Analogous +NM_006231.4:c.1791A>C NP_006222.2:p.Glu597Asp NC_000012.12:132672217:T:G p.(Glu597Asp) NC_000012.12:132672217:T:G p.(Glu597Asp) NC_000012.12:132672217:T:G Identity +NM_004260.4:c.2244G>A NP_004251.4:p.Met748Ile NC_000008.11:144513436:C:T p.(Met748Ile) NC_000008.11:144513436:C:T p.(Met748Ile) NC_000008.11:144513436:C:T Identity +NM_001042437.2:c.671G>A NP_001035902.1:p.Gly224Asp NC_000002.12:85846485:C:T p.(Gly224Asp) NC_000002.12:85846485:C:T p.(Gly224Asp) NC_000002.12:85846485:C:T Identity +NM_020247.5:c.1625_1626del NP_064632.2:p.Ile542fs NC_000001.11:226985304:ATA:A p.(Ile542ArgfsTer31) NC_000001.11:226985304:ATA:A p.(Ile542ArgfsTer31) NC_000001.11:226985305:TA: Analogous +NM_001453.3:c.361G>A NP_001444.2:p.Gly121Ser NC_000006.12:1610805:G:A p.(Gly121Ser) NC_000006.12:1610805:G:A p.(Gly121Ser) NC_000006.12:1610805:G:A Identity +NM_004329.3:c.495T>G NP_004320.2:p.Ile165Met NC_000010.11:86900090:T:G p.(Ile165Met) NC_000010.11:86900090:T:G p.(Ile165Met) NC_000010.11:86900090:T:G Identity +NM_001164507.2:c.9620G>T NP_001157979.2:p.Arg3207Leu NC_000002.12:151630817:C:A p.(Arg3207Leu) NC_000002.12:151630817:C:A p.(Arg3207Leu) NC_000002.12:151630817:C:A Identity +NM_001165962.2:c.520G>T NP_001159434.1:p.Glu174Ter NC_000017.11:13013245:C:A p.(Glu174Ter) NC_000017.11:13013245:C:A p.(Glu174Ter) NC_000017.11:13013245:C:A Identity +NM_001024218.2:c.1667A>G NP_001019389.1:p.Asn556Ser NC_000014.9:67143378:A:G p.(Asn556Ser) NC_000014.9:67143378:A:G p.(Asn556Ser) NC_000014.9:67143378:A:G Identity +NM_001256317.3:c.497G>A NP_001243246.1:p.Arg166Gln NC_000021.9:42385483:C:T p.(Arg166Gln) NC_000021.9:42385483:C:T p.(Arg166Gln) NC_000021.9:42385483:C:T Identity +NM_001282164.2:c.841C>T NP_001269093.1:p.Arg281Cys NC_000012.12:132621291:C:T p.(Arg281Cys) NC_000012.12:132621291:C:T p.(Arg281Cys) NC_000012.12:132621291:C:T Identity +NM_001363823.2:c.286del NP_001350752.1:p.Ala96fs NC_000002.12:32064116:G: p.(Ala96ArgfsTer64) NC_000002.12:32064116:G: p.(Ala96ArgfsTer64) NC_000002.12:32064116:G: Analogous +NM_001172509.2:c.1826del NP_001165980.1:p.Asp609fs NC_000002.12:199272586:T: p.(Asp609AlafsTer15) NC_000002.12:199272586:T: p.(Asp609AlafsTer15) NC_000002.12:199272586:T: Analogous +NM_001098209.2:c.2273del NP_001091679.1:p.His758fs NC_000003.12:41239268:A: p.(His758LeufsTer33) NC_000003.12:41239268:A: p.(His758LeufsTer33) NC_000003.12:41239268:A: Analogous +NM_000019.4:c.395C>G NP_000010.1:p.Ala132Gly NC_000011.10:108135201:C:G p.(Ala132Gly) NC_000011.10:108135201:C:G p.(Ala132Gly) NC_000011.10:108135201:C:G Identity +NM_001080463.2:c.3262dup NP_001073932.1:p.Ile1088fs NC_000011.10:103153461:AAAAAAA:AAAAAAAA p.(Ile1088AsnfsTer2) NC_000011.10:103153461:AAAAAAA:AAAAAAAA p.(Ile1088AsnfsTer2) ERR:SPDI Analogous +NM_001145527.2:c.1117G>A NP_001138999.1:p.Glu373Lys NC_000009.12:137744036:G:A p.(Glu373Lys) NC_000009.12:137744036:G:A p.(Glu373Lys) NC_000009.12:137744036:G:A Identity +NM_004044.7:c.406G>A NP_004035.2:p.Ala136Thr NC_000002.12:215326012:G:A p.(Ala136Thr) NC_000002.12:215326012:G:A p.(Ala136Thr) NC_000002.12:215326012:G:A Identity +NM_001102.4:c.970A>G NP_001093.1:p.Lys324Glu NC_000014.9:68892168:T:C p.(Lys324Glu) NC_000014.9:68892168:T:C p.(Lys324Glu) NC_000014.9:68892168:T:C Identity +NM_001308211.1:c.1522G>A NP_001295140.1:p.Glu508Lys NC_000016.10:23525209:C:T p.(Glu508Lys) NC_000016.10:23525209:C:T p.(Glu508Lys) NC_000016.10:23525209:C:T Identity +NM_001256850.1:c.2426C>G NP_001243779.1:p.Pro809Arg NC_000002.12:178785686:G:C p.(Pro809Arg) NC_000002.12:178785686:G:C p.(Pro809Arg) NC_000002.12:178785686:G:C Identity +NM_001362843.2:c.4154C>T NP_001349772.1:p.Thr1385Ile NC_000022.11:41169561:C:T p.(Thr1385Ile) NC_000022.11:41169561:C:T p.(Thr1385Ile) NC_000022.11:41169561:C:T Identity +NM_001042544.1:c.3190G>A NP_001036009.1:p.Val1064Met NC_000019.10:40617143:G:A p.(Val1064Met) NC_000019.10:40617143:G:A p.(Val1064Met) NC_000019.10:40617143:G:A Identity +NM_001145472.3:c.2735A>G NP_001138944.1:p.Glu912Gly NC_000018.10:46485132:T:C p.(Glu912Gly) NC_000018.10:46485132:T:C p.(Glu912Gly) NC_000018.10:46485132:T:C Identity +NM_001256850.1:c.35142A>T NP_001243779.1:p.Lys11714Asn NC_000002.12:178650796:T:A p.(Lys11714Asn) NC_000002.12:178650796:T:A p.(Lys11714Asn) NC_000002.12:178650796:T:A Identity +NM_001164507.2:c.25174G>A NP_001157979.2:p.Glu8392Lys NC_000002.12:151490494:C:T p.(Glu8392Lys) NC_000002.12:151490494:C:T p.(Glu8392Lys) NC_000002.12:151490494:C:T Identity +NM_001363260.1:c.240del NP_001350189.1:p.Ser81fs NC_000008.11:95263689:GGG:GG p.(Ser81LeufsTer3) NC_000008.11:95263689:GGG:GG p.(Ser81LeufsTer3) NC_000008.11:95263689:G: Analogous +NM_001320665.2:c.210_213del NP_001307594.1:p.Ile70fs NC_000015.10:72712292:CTATCTAT:CTAT p.(Ile70MetfsTer5) NC_000015.10:72712292:CTATCTAT:CTAT p.(Ile70MetfsTer5) NC_000015.10:72712296:CTAT: Analogous +NM_016239.4:c.515T>C NP_057323.3:p.Leu172Pro NC_000017.11:18119314:T:C p.(Leu172Pro) NC_000017.11:18119314:T:C p.(Leu172Pro) NC_000017.11:18119314:T:C Identity +NM_001161683.2:c.164A>G NP_001155155.1:p.Asp55Gly NC_000016.10:21687413:A:G p.(Asp55Gly) NC_000016.10:21687413:A:G p.(Asp55Gly) NC_000016.10:21687413:A:G Identity +NM_000138.5:c.5678A>G NP_000129.3:p.Asn1893Ser NC_000015.10:48446815:T:C p.(Asn1893Ser) NC_000015.10:48446815:T:C p.(Asn1893Ser) NC_000015.10:48446815:T:C Identity +NM_001350748.2:c.3109C>T NP_001337677.1:p.Arg1037Ter NC_000013.11:101103206:G:A p.(Arg1037Ter) NC_000013.11:101103206:G:A p.(Arg1037Ter) NC_000013.11:101103206:G:A Identity +NM_206933.4:c.6724G>A NP_996816.3:p.Glu2242Lys NC_000001.11:215993100:C:T p.(Glu2242Lys) NC_000001.11:215993100:C:T p.(Glu2242Lys) NC_000001.11:215993100:C:T Identity +NM_001319683.2:c.1313del NP_001306612.1:p.Leu438fs NC_000001.11:92263676:AAA:AA p.(Leu438TrpfsTer24) NC_000001.11:92263676:AAA:AA p.(Leu438TrpfsTer24) NC_000001.11:92263676:A: Analogous +LRG_778t1:c.1571C>A LRG_778p1:p.Thr524Lys NC_000015.10:48513565:G:T ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:Data provider error: ValueError: Transcript LRG_778t1 not found ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_778t1, alt_ac=LRG_778t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_778t1 not found +NM_024539.3:c.553G>A NP_078815.3:p.Val185Ile NC_000023.11:106773058:G:A p.(Val185Ile) NC_000023.11:106773058:G:A p.(Val185Ile) NC_000023.11:106773058:G:A Identity +NM_000033.4:c.2043C>G NP_000024.2:p.Phe681Leu NC_000023.11:153743539:C:G p.(Phe681Leu) NC_000023.11:153743539:C:G p.(Phe681Leu) NC_000023.11:153743539:C:G Identity +NM_000256.3:c.3142C>A NP_000247.2:p.Arg1048Ser NC_000011.10:47333604:G:T p.(Arg1048Ser) NC_000011.10:47333604:G:T p.(Arg1048Ser) NC_000011.10:47333604:G:T Identity +NM_000256.3:c.3256T>C NP_000247.2:p.Trp1086Arg NC_000011.10:47333267:A:G p.(Trp1086Arg) NC_000011.10:47333267:A:G p.(Trp1086Arg) NC_000011.10:47333267:A:G Identity +NM_001257374.3:c.1714T>C NP_001244303.1:p.Cys572Arg NC_000001.11:156139827:T:C p.(Cys572Arg) NC_000001.11:156139827:T:C p.(Cys572Arg) NC_000001.11:156139827:T:C Identity +NM_000527.5:c.684G>T NP_000518.1:p.Glu228Asp NC_000019.10:11105589:G:T p.(Glu228Asp) NC_000019.10:11105589:G:T p.(Glu228Asp) NC_000019.10:11105589:G:T Identity +NM_001146312.3:c.684dup NP_001139784.1:p.Ser229fs NC_000017.11:12739288:CCCCCCC:CCCCCCCC p.(Ser229GlnfsTer17) NC_000017.11:12739288:CCCCCCC:CCCCCCCC p.(Ser229GlnfsTer17) ERR:SPDI Analogous +NM_057176.3:c.842C>T NP_476517.1:p.Ser281Leu NC_000001.11:55008506:C:T p.(Ser281Leu) NC_000001.11:55008506:C:T p.(Ser281Leu) NC_000001.11:55008506:C:T Identity +NM_017780.4:c.5514G>A NP_060250.2:p.Met1838Ile NC_000008.11:60850601:G:A p.(Met1838Ile) NC_000008.11:60850601:G:A p.(Met1838Ile) NC_000008.11:60850601:G:A Identity +NM_017433.5:c.2039A>C NP_059129.3:p.Lys680Thr NC_000010.11:26125532:A:C p.(Lys680Thr) NC_000010.11:26125532:A:C p.(Lys680Thr) NC_000010.11:26125532:A:C Identity +NM_004855.5:c.212G>A NP_004846.4:p.Arg71Gln NC_000015.10:55320322:G:A p.(Arg71Gln) NC_000015.10:55320322:G:A p.(Arg71Gln) NC_000015.10:55320322:G:A Identity +NM_001291088.2:c.8645G>A NP_001278017.1:p.Arg2882Gln NC_000019.10:37885025:C:T p.(Arg2882Gln) NC_000019.10:37885025:C:T p.(Arg2882Gln) NC_000019.10:37885025:C:T Identity +NM_001037343.2:c.1768G>A NP_001032420.1:p.Glu590Lys NC_000023.11:18604691:G:A p.(Glu590Lys) NC_000023.11:18604691:G:A p.(Glu590Lys) NC_000023.11:18604691:G:A Identity +NM_001243900.3:c.2371C>G NP_001230829.1:p.Arg791Gly NC_000002.12:241239741:G:C p.(Arg791Gly) NC_000002.12:241239741:G:C p.(Arg791Gly) NC_000002.12:241239741:G:C Identity +NM_001190274.2:c.1576G>A NP_001177203.1:p.Ala526Thr NC_000002.12:47823182:C:T p.(Ala526Thr) NC_000002.12:47823182:C:T p.(Ala526Thr) NC_000002.12:47823182:C:T Identity +NM_032119.4:c.8620C>T NP_115495.3:p.Gln2874Ter NC_000005.10:90706283:C:T p.(Gln2874Ter) NC_000005.10:90706283:C:T p.(Gln2874Ter) NC_000005.10:90706283:C:T Identity +NM_001379210.1:c.122G>A NP_001366139.1:p.Ser41Asn NC_000003.12:66236631:G:A p.(Ser41Asn) NC_000003.12:66236631:G:A p.(Ser41Asn) NC_000003.12:66236631:G:A Identity +NM_000091.5:c.136G>A NP_000082.2:p.Gly46Arg NC_000002.12:227238015:G:A p.(Gly46Arg) NC_000002.12:227238015:G:A p.(Gly46Arg) NC_000002.12:227238015:G:A Identity +NM_001102.4:c.2157G>C NP_001093.1:p.Gln719His NC_000014.9:68880084:C:G p.(Gln719His) NC_000014.9:68880084:C:G p.(Gln719His) NC_000014.9:68880084:C:G Identity +NM_001330504.2:c.817G>A NP_001317433.1:p.Gly273Arg NC_000016.10:5082635:G:A p.(Gly273Arg) NC_000016.10:5082635:G:A p.(Gly273Arg) NC_000016.10:5082635:G:A Identity +NM_031407.7:c.659C>T NP_113584.3:p.Thr220Ile NC_000023.11:53631600:G:A p.(Thr220Ile) NC_000023.11:53631600:G:A p.(Thr220Ile) NC_000023.11:53631600:G:A Identity +NM_001042529.3:c.1064C>T NP_001035994.1:p.Pro355Leu NC_000017.11:42564724:C:T p.(Pro355Leu) NC_000017.11:42564724:C:T p.(Pro355Leu) NC_000017.11:42564724:C:T Identity +NM_001329906.2:c.156dup NP_001316835.1:p.Thr53fs NC_000010.11:70435621:GGGGGG:GGGGGGG p.(Thr53HisfsTer92) NC_000010.11:70435621:GGGGGG:GGGGGGG p.(Thr53HisfsTer92) ERR:SPDI Analogous +NM_001306219.3:c.1496G>T NP_001293148.1:p.Cys499Phe NC_000015.10:57282471:G:T p.(Cys499Phe) NC_000015.10:57282471:G:T p.(Cys499Phe) NC_000015.10:57282471:G:T Identity +NM_001103.4:c.431A>T NP_001094.1:p.Gln144Leu NC_000001.11:236720173:A:T p.(Gln144Leu) NC_000001.11:236720173:A:T p.(Gln144Leu) NC_000001.11:236720173:A:T Identity +NM_006361.6:c.493C>T NP_006352.2:p.Pro165Ser NC_000017.11:48728100:G:A p.(Pro165Ser) NC_000017.11:48728100:G:A p.(Pro165Ser) NC_000017.11:48728100:G:A Identity +NM_006361.6:c.532del NP_006352.2:p.Trp178fs NC_000017.11:48728061:A: p.(Trp178GlyfsTer101) NC_000017.11:48728061:A: p.(Trp178GlyfsTer101) NC_000017.11:48728061:A: Analogous +NM_000388.4:c.1169C>G NP_000379.3:p.Ala390Gly NC_000003.12:122262203:C:G p.(Ala390Gly) NC_000003.12:122262203:C:G p.(Ala390Gly) NC_000003.12:122262203:C:G Identity +NM_004958.4:c.3349C>T NP_004949.1:p.Pro1117Ser NC_000001.11:11212844:G:A p.(Pro1117Ser) NC_000001.11:11212844:G:A p.(Pro1117Ser) NC_000001.11:11212844:G:A Identity +NM_001098268.2:c.712A>G NP_001091738.1:p.Ile238Val NC_000013.11:108210556:T:C p.(Ile238Val) NC_000013.11:108210556:T:C p.(Ile238Val) NC_000013.11:108210556:T:C Identity +NM_002471.4:c.2500C>T NP_002462.2:p.Leu834Phe NC_000014.9:23394252:G:A p.(Leu834Phe) NC_000014.9:23394252:G:A p.(Leu834Phe) NC_000014.9:23394252:G:A Identity +NM_000527.5:c.625T>G NP_000518.1:p.Cys209Gly NC_000019.10:11105530:T:G p.(Cys209Gly) NC_000019.10:11105530:T:G p.(Cys209Gly) NC_000019.10:11105530:T:G Identity +NM_001018113.3:c.195dup NP_001018123.1:p.Thr66fs NC_000023.11:14865315:AAAAAA:AAAAAAA p.(Thr66TyrfsTer25) NC_000023.11:14865315:AAAAAA:AAAAAAA p.(Thr66TyrfsTer25) ERR:SPDI Analogous +NM_001943.5:c.882dup NP_001934.2:p.Val295fs NC_000018.10:31524752:AAAA:AAAAA p.(Val295SerfsTer6) NC_000018.10:31524752:AAAA:AAAAA p.(Val295SerfsTer6) ERR:SPDI Analogous +NM_000492.4:c.598T>G NP_000483.3:p.Phe200Val NC_000007.14:117535265:T:G p.(Phe200Val) NC_000007.14:117535265:T:G p.(Phe200Val) NC_000007.14:117535265:T:G Identity +NM_000395.3:c.2119G>A NP_000386.1:p.Val707Met NC_000022.11:36937926:G:A p.(Val707Met) NC_000022.11:36937926:G:A p.(Val707Met) NC_000022.11:36937926:G:A Identity +NM_000814.6:c.847G>A NP_000805.1:p.Val283Met NC_000015.10:26561164:C:T p.(Val283Met) NC_000015.10:26561164:C:T p.(Val283Met) NC_000015.10:26561164:C:T Identity +NM_001178032.3:c.343C>T NP_001171503.1:p.Gln115Ter NC_000023.11:64919190:G:A p.(Gln115Ter) NC_000023.11:64919190:G:A p.(Gln115Ter) NC_000023.11:64919190:G:A Identity +NM_001284333.3:c.2173C>T NP_001271262.1:p.Arg725Ter NC_000017.11:62612418:C:T p.(Arg725Ter) NC_000017.11:62612418:C:T p.(Arg725Ter) NC_000017.11:62612418:C:T Identity +NM_001256850.1:c.28354T>C NP_001243779.1:p.Tyr9452His NC_000002.12:178706568:A:G p.(Tyr9452His) NC_000002.12:178706568:A:G p.(Tyr9452His) NC_000002.12:178706568:A:G Identity +NM_001301035.2:c.1075G>A NP_001287964.1:p.Glu359Lys NC_000019.10:42248811:C:T p.(Glu359Lys) NC_000019.10:42248811:C:T p.(Glu359Lys) NC_000019.10:42248811:C:T Identity +NM_001111322.2:c.892C>T NP_001104792.1:p.Leu298Phe NC_000012.12:113174918:G:A p.(Leu298Phe) NC_000012.12:113174918:G:A p.(Leu298Phe) NC_000012.12:113174918:G:A Identity +NM_001195573.1:c.1329_1344del NP_001182502.1:p.Cys443fs NC_000014.9:95124227:CACAAAAATAATTCCGCACAAAA:CACAAAA p.(Cys443TrpfsTer10) NC_000014.9:95124227:CACAAAAATAATTCCGCACAAAA:CACAAAA p.(Cys443TrpfsTer10) NC_000014.9:95124227:CACAAAAATAATTCCG: Analogous +NM_006361.6:c.48A>T NP_006352.2:p.Glu16Asp NC_000017.11:48728545:T:A p.(Glu16Asp) NC_000017.11:48728545:T:A p.(Glu16Asp) NC_000017.11:48728545:T:A Identity +NM_006361.6:c.522_523insT NP_006352.2:p.Ala175fs NC_000017.11:48728071::A p.(Ala175CysfsTer35) NC_000017.11:48728070:C:A p.(Ala175CysfsTer35) NC_000017.11:48728071:CG:A Analogous +NM_006361.6:c.657dup NP_006352.2:p.Arg220fs NC_000017.11:48726987:TTT:TTTT p.(Arg220ThrfsTer19) NC_000017.11:48726987:TTT:TTTT p.(Arg220ThrfsTer19) ERR:SPDI Analogous +NM_006361.6:c.725C>A NP_006352.2:p.Thr242Asn NC_000017.11:48726919:G:T p.(Thr242Asn) NC_000017.11:48726919:G:T p.(Thr242Asn) NC_000017.11:48726919:G:T Identity +NM_001083961.2:c.2788C>T NP_001077430.1:p.Gln930Ter NC_000019.10:36100795:C:T p.(Gln930Ter) NC_000019.10:36100795:C:T p.(Gln930Ter) NC_000019.10:36100795:C:T Identity +NM_001007226.1:c.469del NP_001007227.1:p.Leu157fs NC_000017.11:49618991:GGG:GG p.(Leu157SerfsTer5) NC_000017.11:49618991:GGG:GG p.(Leu157SerfsTer5) NC_000017.11:49618991:G: Analogous +NM_000802.3:c.440G>A NP_000793.1:p.Arg147His NC_000011.10:72195693:G:A p.(Arg147His) NC_000011.10:72195693:G:A p.(Arg147His) NC_000011.10:72195693:G:A Identity +NM_012293.3:c.2569del NP_036425.1:p.Cys857fs NC_000002.12:1649210:A: p.(Cys857AlafsTer5) NC_000002.12:1649210:A: p.(Cys857AlafsTer5) NC_000002.12:1649210:A: Analogous +NM_022662.4:c.1778dup NP_073153.1:p.Asn593fs NC_000002.12:111825364:G:A p.(Asn593LysfsTer9) NC_000002.12:111847737:TT:TTT p.(Asn593LysfsTer9) ERR:SPDI Analogous +NM_001139466.1:c.1510C>T NP_001132938.1:p.His504Tyr NC_000023.11:9711680:C:T p.(His504Tyr) NC_000023.11:9711680:C:T p.(His504Tyr) NC_000023.11:9711680:C:T Identity +NM_000937.5:c.2098C>T NP_000928.1:p.Gln700Ter NC_000017.11:7501335:C:T p.(Gln700Ter) NC_000017.11:7501335:C:T p.(Gln700Ter) NC_000017.11:7501335:C:T Identity +NM_004444.5:c.2173G>A NP_004435.3:p.Ala725Thr NC_000007.14:100807525:C:T p.(Ala725Thr) NC_000007.14:100807525:C:T p.(Ala725Thr) NC_000007.14:100807525:C:T Identity +NM_000294.3:c.661G>A NP_000285.1:p.Val221Met NC_000016.10:30756379:G:A p.(Val221Met) NC_000016.10:30756379:G:A p.(Val221Met) NC_000016.10:30756379:G:A Identity +NM_001289396.2:c.2361C>A NP_001276325.1:p.Asn787Lys NC_000009.12:2083358:C:A p.(Asn787Lys) NC_000009.12:2083358:C:A p.(Asn787Lys) NC_000009.12:2083358:C:A Identity +NM_001844.5:c.1129G>A NP_001835.3:p.Ala377Thr NC_000012.12:47987702:C:T p.(Ala377Thr) NC_000012.12:47987702:C:T p.(Ala377Thr) NC_000012.12:47987702:C:T Identity +NM_001160227.2:c.2377G>A NP_001153699.1:p.Val793Met NC_000015.10:44622286:C:T p.(Val793Met) NC_000015.10:44622286:C:T p.(Val793Met) NC_000015.10:44622286:C:T Identity +NM_020435.4:c.445G>A NP_065168.2:p.Gly149Ser NC_000001.11:228158202:G:A p.(Gly149Ser) NC_000001.11:228158202:G:A p.(Gly149Ser) NC_000001.11:228158202:G:A Identity +NM_001256944.2:c.1537C>T NP_001243873.1:p.Pro513Ser NC_000023.11:10213922:C:T p.(Pro513Ser) NC_000023.11:10213922:C:T p.(Pro513Ser) NC_000023.11:10213922:C:T Identity +NM_003705.5:c.1706G>A NP_003696.2:p.Arg569Gln NC_000002.12:171787826:C:T p.(Arg569Gln) NC_000002.12:171787826:C:T p.(Arg569Gln) NC_000002.12:171787826:C:T Identity +NM_178170.3:c.1039G>A NP_835464.1:p.Val347Ile NC_000017.11:28737967:G:A p.(Val347Ile) NC_000017.11:28737967:G:A p.(Val347Ile) NC_000017.11:28737967:G:A Identity +NM_014681.6:c.466C>T NP_055496.2:p.Gln156Ter NC_000019.10:47353495:C:T p.(Gln156Ter) NC_000019.10:47353495:C:T p.(Gln156Ter) NC_000019.10:47353495:C:T Identity +NM_000095.3:c.763T>C NP_000086.2:p.Cys255Arg NC_000019.10:18788513:A:G p.(Cys255Arg) NC_000019.10:18788513:A:G p.(Cys255Arg) NC_000019.10:18788513:A:G Identity +NM_001318502.2:c.976G>A NP_001305431.1:p.Glu326Lys NC_000009.12:136434094:C:T p.(Glu326Lys) NC_000009.12:136434094:C:T p.(Glu326Lys) NC_000009.12:136434094:C:T Identity +NM_001256267.2:c.2093A>G NP_001243196.1:p.Asn698Ser NC_000010.11:68174184:A:G p.(Asn698Ser) NC_000010.11:68174184:A:G p.(Asn698Ser) NC_000010.11:68174184:A:G Identity +NM_000834.5:c.3796C>T NP_000825.2:p.Pro1266Ser NC_000012.12:13563441:G:A p.(Pro1266Ser) NC_000012.12:13563441:G:A p.(Pro1266Ser) NC_000012.12:13563441:G:A Identity +NM_001290307.3:c.1310C>T NP_001277236.1:p.Ala437Val NC_000005.10:138904361:C:T p.(Ala437Val) NC_000005.10:138904361:C:T p.(Ala437Val) NC_000005.10:138904361:C:T Identity +NM_001042544.1:c.4409G>A NP_001036009.1:p.Arg1470His NC_000019.10:40627196:G:A p.(Arg1470His) NC_000019.10:40627196:G:A p.(Arg1470His) NC_000019.10:40627196:G:A Identity +NM_001256850.1:c.29503C>T NP_001243779.1:p.Arg9835Trp NC_000002.12:178702224:G:A p.(Arg9835Trp) NC_000002.12:178702224:G:A p.(Arg9835Trp) NC_000002.12:178702224:G:A Identity +NM_001042494.2:c.962G>A NP_001035959.1:p.Arg321His NC_000015.10:34252363:C:T p.(Arg321His) NC_000015.10:34252363:C:T p.(Arg321His) NC_000015.10:34252363:C:T Identity +NM_001271938.2:c.4781G>A NP_001258867.1:p.Arg1594His NC_000019.10:42356931:G:A p.(Arg1594His) NC_000019.10:42356931:G:A p.(Arg1594His) NC_000019.10:42356931:G:A Identity +NM_139125.4:c.1552G>A NP_624302.1:p.Val518Ile NC_000003.12:187236318:C:T p.(Val518Ile) NC_000003.12:187236318:C:T p.(Val518Ile) NC_000003.12:187236318:C:T Identity +NM_001354511.2:c.151G>T NP_001341440.1:p.Glu51Ter NC_000015.10:25375614:C:A p.(Glu51Ter) NC_000015.10:25375614:C:A p.(Glu51Ter) NC_000015.10:25375614:C:A Identity +NM_001378183.1:c.911A>G NP_001365112.1:p.Tyr304Cys NC_000018.10:10855358:T:C p.(Tyr304Cys) NC_000018.10:10855358:T:C p.(Tyr304Cys) NC_000018.10:10855358:T:C Identity +NM_025074.7:c.9446C>T NP_079350.5:p.Thr3149Met NC_000004.12:78507549:C:T p.(Thr3149Met) NC_000004.12:78507549:C:T p.(Thr3149Met) NC_000004.12:78507549:C:T Identity +NM_001142929.2:c.769C>T NP_001136401.2:p.Arg257Trp NC_000010.11:49646515:C:T p.(Arg257Trp) NC_000010.11:49646515:C:T p.(Arg257Trp) NC_000010.11:49646515:C:T Identity +NM_005208.5:c.89C>T NP_005199.2:p.Pro30Leu NC_000017.11:29249198:C:T p.(Pro30Leu) NC_000017.11:29249198:C:T p.(Pro30Leu) NC_000017.11:29249198:C:T Identity +NM_024989.4:c.187G>A NP_079265.2:p.Ala63Thr NC_000002.12:196920110:C:T p.(Ala63Thr) NC_000002.12:196920110:C:T p.(Ala63Thr) NC_000002.12:196920110:C:T Identity +NM_001286074.2:c.2557T>G NP_001273003.2:p.Phe853Val NC_000023.11:71388365:T:G p.(Phe853Val) NC_000023.11:71388365:T:G p.(Phe853Val) NC_000023.11:71388365:T:G Identity +NM_006035.4:c.2612T>C NP_006026.3:p.Leu871Pro NC_000014.9:102964615:A:G p.(Leu871Pro) NC_000014.9:102964615:A:G p.(Leu871Pro) NC_000014.9:102964615:A:G Identity +NM_001256850.1:c.7876C>T NP_001243779.1:p.Leu2626Phe NC_000002.12:178771450:G:A p.(Leu2626Phe) NC_000002.12:178771450:G:A p.(Leu2626Phe) NC_000002.12:178771450:G:A Identity +NM_000068.4:c.2179G>A NP_000059.3:p.Glu727Lys NC_000019.10:13303541:C:T p.(Glu727Lys) NC_000019.10:13303541:C:T p.(Glu727Lys) NC_000019.10:13303541:C:T Identity +NM_001256850.1:c.56767G>A NP_001243779.1:p.Val18923Ile NC_000002.12:178590034:C:T p.(Val18923Ile) NC_000002.12:178590034:C:T p.(Val18923Ile) NC_000002.12:178590034:C:T Identity +NM_000755.5:c.830G>A NP_000746.3:p.Arg277His NC_000009.12:129100664:C:T p.(Arg277His) NC_000009.12:129100664:C:T p.(Arg277His) NC_000009.12:129100664:C:T Identity +NM_001080115.2:c.451G>A NP_001073584.1:p.Ala151Thr NC_000010.11:86681564:G:A p.(Ala151Thr) NC_000010.11:86681564:G:A p.(Ala151Thr) NC_000010.11:86681564:G:A Identity +NM_014704.4:c.490G>T NP_055519.1:p.Ala164Ser NC_000001.11:3844982:C:A p.(Ala164Ser) NC_000001.11:3844982:C:A p.(Ala164Ser) NC_000001.11:3844982:C:A Identity +NM_001185039.2:c.383A>G NP_001171968.1:p.Asn128Ser NC_000017.11:75957499:T:C p.(Asn128Ser) NC_000017.11:75957499:T:C p.(Asn128Ser) NC_000017.11:75957499:T:C Identity +NM_000418.4:c.812G>A NP_000409.1:p.Arg271His NC_000016.10:27358956:G:A p.(Arg271His) NC_000016.10:27358956:G:A p.(Arg271His) NC_000016.10:27358956:G:A Identity +NM_001079846.1:c.2303T>G NP_001073315.1:p.Met768Arg NC_000016.10:3773796:A:C p.(Met768Arg) NC_000016.10:3773796:A:C p.(Met768Arg) NC_000016.10:3773796:A:C Identity +NM_000323.2:c.1753T>C NP_000314.1:p.Cys585Arg NC_000010.11:43112956:T:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_003190.5:c.623G>A NP_003181.3:p.Arg208His NC_000006.12:33305233:C:T p.(Arg208His) NC_000006.12:33305233:C:T p.(Arg208His) NC_000006.12:33305233:C:T Identity +NM_001381939.1:c.1297C>T NP_001368868.1:p.Arg433Cys NC_000006.12:169237627:G:A p.(Arg433Cys) NC_000006.12:169237627:G:A p.(Arg433Cys) NC_000006.12:169237627:G:A Identity +NM_001367759.1:c.1974G>C NP_001354688.1:p.Glu658Asp NC_000006.12:121255371:C:G p.(Glu658Asp) NC_000006.12:121255371:C:G p.(Glu658Asp) NC_000006.12:121255371:C:G Identity +NM_001128602.2:c.736C>T NP_001122074.1:p.Arg246Ter NC_000015.10:38512895:G:A p.(Arg246Ter) NC_000015.10:38512895:G:A p.(Arg246Ter) NC_000015.10:38512895:G:A Identity +NM_000019.4:c.2T>C NP_000010.1:p.Met1Thr NC_000011.10:108121607:T:C p.(Met1Thr) NC_000011.10:108121607:T:C p.Met1? NC_000011.10:108121607:T:C Identity +NM_001081.4:c.10002G>C NP_001072.2:p.Gln3334His NC_000010.11:16840359:C:G p.(Gln3334His) NC_000010.11:16840359:C:G p.(Gln3334His) NC_000010.11:16840359:C:G Identity +NM_016204.4:c.652G>A NP_057288.1:p.Asp218Asn NC_000010.11:47325145:G:A p.(Asp218Asn) NC_000010.11:47325145:G:A p.(Asp218Asn) NC_000010.11:47325145:G:A Identity +NM_001079668.3:c.190C>A NP_001073136.1:p.Leu64Ile NC_000014.9:36519257:G:T p.(Leu64Ile) NC_000014.9:36519257:G:T p.(Leu64Ile) NC_000014.9:36519257:G:T Identity +NM_001191057.4:c.1979G>A NP_001177986.1:p.Arg660His NC_000007.14:31753534:C:T p.(Arg660His) NC_000007.14:31753534:C:T p.(Arg660His) NC_000007.14:31753534:C:T Identity +NM_016239.4:c.1261C>T NP_057323.3:p.Pro421Ser NC_000017.11:18120060:C:T p.(Pro421Ser) NC_000017.11:18120060:C:T p.(Pro421Ser) NC_000017.11:18120060:C:T Identity +NM_000260.4:c.5263G>A NP_000251.3:p.Ala1755Thr NC_000011.10:77203153:G:A p.(Ala1755Thr) NC_000011.10:77203153:G:A p.(Ala1755Thr) NC_000011.10:77203153:G:A Identity +NM_032229.3:c.1555T>C NP_115605.2:p.Trp519Arg NC_000013.11:85794953:A:G p.(Trp519Arg) NC_000013.11:85794953:A:G p.(Trp519Arg) NC_000013.11:85794953:A:G Identity +NM_000171.4:c.403del NP_000162.2:p.His135fs NC_000005.10:151859857:GGG:GG p.(His135ThrfsTer12) NC_000005.10:151859857:GGG:GG p.(His135ThrfsTer12) NC_000005.10:151859857:G: Analogous +NM_005252.4:c.528G>C NP_005243.1:p.Lys176Asn NC_000014.9:75280808:G:C p.(Lys176Asn) NC_000014.9:75280808:G:C p.(Lys176Asn) NC_000014.9:75280808:G:C Identity +NM_015409.5:c.3469G>A NP_056224.3:p.Val1157Ile NC_000012.12:132013035:G:A p.(Val1157Ile) NC_000012.12:132013035:G:A p.(Val1157Ile) NC_000012.12:132013035:G:A Identity +NM_000901.5:c.767A>G NP_000892.2:p.Asn256Ser NC_000004.12:148436093:T:C p.(Asn256Ser) NC_000004.12:148436093:T:C p.(Asn256Ser) NC_000004.12:148436093:T:C Identity +NM_012213.3:c.686G>A NP_036345.2:p.Arg229His NC_000016.10:83908169:G:A p.(Arg229His) NC_000016.10:83908169:G:A p.(Arg229His) NC_000016.10:83908169:G:A Identity +NM_032184.2:c.1279G>A NP_115560.1:p.Glu427Lys NC_000001.11:85190218:C:T p.(Glu427Lys) NC_000001.11:85190218:C:T p.(Glu427Lys) NC_000001.11:85190218:C:T Identity +NM_020820.4:c.4456G>T NP_065871.3:p.Ala1486Ser NC_000020.11:48632346:C:A p.(Ala1486Ser) NC_000020.11:48632346:C:A p.(Ala1486Ser) NC_000020.11:48632346:C:A Identity +NM_024577.4:c.254A>T NP_078853.2:p.Asp85Val NC_000005.10:149047886:T:A p.(Asp85Val) NC_000005.10:149047886:T:A p.(Asp85Val) NC_000005.10:149047886:T:A Identity +NM_001081676.2:c.2847C>A NP_001075145.1:p.Asp949Glu NC_000002.12:165128029:G:T p.(Asp949Glu) NC_000002.12:165128029:G:T p.(Asp949Glu) NC_000002.12:165128029:G:T Identity +NM_018897.3:c.8464G>A NP_061720.2:p.Gly2822Arg NC_000002.12:195855941:C:T p.(Gly2822Arg) NC_000002.12:195855941:C:T p.(Gly2822Arg) NC_000002.12:195855941:C:T Identity +NM_001164665.2:c.1399G>A NP_001158137.1:p.Val467Ile NC_000007.14:138918226:C:T p.(Val467Ile) NC_000007.14:138918226:C:T p.(Val467Ile) NC_000007.14:138918226:C:T Identity +NM_001278669.2:c.104G>A NP_001265598.1:p.Gly35Asp NC_000018.10:79396327:G:A p.(Gly35Asp) NC_000018.10:79396327:G:A p.(Gly35Asp) NC_000018.10:79396327:G:A Identity +NM_005876.5:c.4019G>A NP_005867.3:p.Arg1340Gln NC_000002.12:219472967:G:A p.(Arg1340Gln) NC_000002.12:219472967:G:A p.(Arg1340Gln) NC_000002.12:219472967:G:A Identity +NM_033125.4:c.1294G>A NP_149116.2:p.Val432Ile NC_000006.12:110438736:C:T p.(Val432Ile) NC_000006.12:110438736:C:T p.(Val432Ile) NC_000006.12:110438736:C:T Identity +NM_000384.3:c.149G>A NP_000375.3:p.Arg50Gln NC_000002.12:21042448:C:T p.(Arg50Gln) NC_000002.12:21042448:C:T p.(Arg50Gln) NC_000002.12:21042448:C:T Identity +NM_001278939.2:c.1391T>C NP_001265868.1:p.Val464Ala NC_000007.14:74057414:T:C p.(Val464Ala) NC_000007.14:74057414:T:C p.(Val464Ala) NC_000007.14:74057414:T:C Identity +NM_001099922.3:c.857A>G NP_001093392.1:p.Lys286Arg NC_000023.11:111711696:A:G p.(Lys286Arg) NC_000023.11:111711696:A:G p.(Lys286Arg) NC_000023.11:111711696:A:G Identity +NM_001350162.2:c.7297G>A NP_001337091.1:p.Glu2433Lys NC_000008.11:30842869:C:T p.(Glu2433Lys) NC_000008.11:30842869:C:T p.(Glu2433Lys) NC_000008.11:30842869:C:T Identity +NM_001300899.2:c.2562T>A NP_001287828.1:p.Asn854Lys NC_000006.12:75886897:T:A p.(Asn854Lys) NC_000006.12:75886897:T:A p.(Asn854Lys) NC_000006.12:75886897:T:A Identity +NM_001008844.3:c.800A>C NP_001008844.1:p.Asp267Ala NC_000006.12:7565380:A:C p.(Asp267Ala) NC_000006.12:7565380:A:C p.(Asp267Ala) NC_000006.12:7565380:A:C Identity +LRG_1353t1:c.1784C>A LRG_1353p1:p.Ala595Asp NC_000003.12:45513157:C:A ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found ERR:AlignmentMapper(tx_ac=LRG_1353t1, alt_ac=LRG_1353t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1353t1, alt_ac=LRG_1353t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1353t1 not found +NM_153212.3:c.371G>A NP_694944.1:p.Arg124Gln NC_000001.11:34761624:G:A p.(Arg124Gln) NC_000001.11:34761624:G:A p.(Arg124Gln) NC_000001.11:34761624:G:A Identity +NM_004870.4:c.652G>T NP_004861.2:p.Val218Leu NC_000017.11:7587458:G:T p.(Val218Leu) NC_000017.11:7587458:G:T p.(Val218Leu) NC_000017.11:7587458:G:T Identity +NM_005859.5:c.503T>C NP_005850.1:p.Leu168Pro NC_000005.10:140114683:T:C p.(Leu168Pro) NC_000005.10:140114683:T:C p.(Leu168Pro) NC_000005.10:140114683:T:C Identity +NM_014640.5:c.413C>T NP_055455.3:p.Ser138Leu NC_000002.12:218738088:C:T p.(Ser138Leu) NC_000002.12:218738088:C:T p.(Ser138Leu) NC_000002.12:218738088:C:T Identity +NM_006361.6:c.631dup NP_006352.2:p.Cys211fs NC_000017.11:48727013:A:AA p.(Cys211LeufsTer28) NC_000017.11:48727013:A:AA p.(Cys211LeufsTer28) ERR:SPDI Analogous +NM_000216.4:c.1921G>A NP_000207.2:p.Gly641Arg NC_000023.11:8534381:C:T p.(Gly641Arg) NC_000023.11:8534381:C:T p.(Gly641Arg) NC_000023.11:8534381:C:T Identity +NM_002292.4:c.703C>T NP_002283.3:p.Arg235Trp NC_000003.12:49131387:G:A p.(Arg235Trp) NC_000003.12:49131387:G:A p.(Arg235Trp) NC_000003.12:49131387:G:A Identity +NM_001164507.2:c.22108C>G NP_001157979.2:p.Pro7370Ala NC_000002.12:151526010:G:C p.(Pro7370Ala) NC_000002.12:151526010:G:C p.(Pro7370Ala) NC_000002.12:151526010:G:C Identity +NM_002335.4:c.518C>T NP_002326.2:p.Thr173Met NC_000011.10:68357678:C:T p.(Thr173Met) NC_000011.10:68357678:C:T p.(Thr173Met) NC_000011.10:68357678:C:T Identity +NM_000243.3:c.1770G>A NP_000234.1:p.Leu590= NC_000016.10:3243881:C:T p.(Leu590=) NC_000016.10:3243881:C:T p.(Leu590=) NC_000016.10:3243881:C:T Identity +NM_144651.5:c.1213G>A NP_653252.4:p.Gly405Ser NC_000008.11:51453554:C:T p.(Gly405Ser) NC_000008.11:51453554:C:T p.(Gly405Ser) NC_000008.11:51453554:C:T Identity +NM_000024.6:c.206A>G NP_000015.2:p.Asn69Ser NC_000005.10:148827036:A:G p.(Asn69Ser) NC_000005.10:148827036:A:G p.(Asn69Ser) NC_000005.10:148827036:A:G Identity +NM_001033024.2:c.1298G>A NP_001028196.1:p.Gly433Asp NC_000022.11:32498495:G:A p.(Gly433Asp) NC_000022.11:32498495:G:A p.(Gly433Asp) NC_000022.11:32498495:G:A Identity +NM_001256182.2:c.6560C>T NP_001243111.1:p.Pro2187Leu NC_000016.10:89279981:G:A p.(Pro2187Leu) NC_000016.10:89279981:G:A p.(Pro2187Leu) NC_000016.10:89279981:G:A Identity +NM_001330540.2:c.287G>A NP_001317469.1:p.Arg96Gln NC_000001.11:45508823:G:A p.(Arg96Gln) NC_000001.11:45508823:G:A p.(Arg96Gln) NC_000001.11:45508823:G:A Identity +NM_139125.4:c.2179G>A NP_624302.1:p.Glu727Lys NC_000003.12:187235691:C:T p.(Glu727Lys) NC_000003.12:187235691:C:T p.(Glu727Lys) NC_000003.12:187235691:C:T Identity +NM_001350914.2:c.381T>C NP_001337843.1:p.Asp127= NC_000007.14:158876636:T:C p.(Asp127=) NC_000007.14:158876636:T:C p.(Asp127=) NC_000007.14:158876636:T:C Identity +NM_001080556.2:c.584G>A NP_001074025.1:p.Gly195Asp NC_000017.11:9608152:G:A p.(Gly195Asp) NC_000017.11:9608152:G:A p.(Gly195Asp) NC_000017.11:9608152:G:A Identity +NM_001350914.2:c.2072C>T NP_001337843.1:p.Thr691Met NC_000007.14:158923685:C:T p.(Thr691Met) NC_000007.14:158923685:C:T p.(Thr691Met) NC_000007.14:158923685:C:T Identity +NM_006361.6:c.742A>C NP_006352.2:p.Lys248Gln NC_000017.11:48726902:T:G p.(Lys248Gln) NC_000017.11:48726902:T:G p.(Lys248Gln) NC_000017.11:48726902:T:G Identity +NM_001379150.1:c.1772dup NP_001366079.1:p.Lys592fs NC_000023.11:108734572:CCCCCCCC:CCCCCCCCC p.(Lys592GlnfsTer12) NC_000023.11:108734572:CCCCCCCC:CCCCCCCCC p.(Lys592GlnfsTer12) ERR:SPDI Analogous +NM_001194937.2:c.3952A>G NP_001181866.1:p.Ser1318Gly NC_000001.11:151405055:T:C p.(Ser1318Gly) NC_000001.11:151405055:T:C p.(Ser1318Gly) NC_000001.11:151405055:T:C Identity +NM_001001483.3:c.820G>A NP_001001483.1:p.Ala274Thr NC_000011.10:19163403:G:A p.(Ala274Thr) NC_000011.10:19163403:G:A p.(Ala274Thr) NC_000011.10:19163403:G:A Identity +NM_001378092.1:c.1465C>A NP_001365021.1:p.His489Asn NC_000011.10:70149726:C:A p.(His489Asn) NC_000011.10:70149726:C:A p.(His489Asn) NC_000011.10:70149726:C:A Identity +NM_001256850.1:c.82363A>G NP_001243779.1:p.Thr27455Ala NC_000002.12:178558067:T:C p.(Thr27455Ala) NC_000002.12:178558067:T:C p.(Thr27455Ala) NC_000002.12:178558067:T:C Identity +NM_014641.3:c.1756T>G NP_055456.2:p.Ser586Ala NC_000006.12:30712185:A:C p.(Ser586Ala) NC_000006.12:30712185:A:C p.(Ser586Ala) NC_000006.12:30712185:A:C Identity +NM_001384739.1:c.1246C>T NP_001371668.1:p.Arg416Cys NC_000007.14:2712695:C:T p.(Arg416Cys) NC_000007.14:2712695:C:T p.(Arg416Cys) NC_000007.14:2712695:C:T Identity +NM_001271938.2:c.281C>T NP_001258867.1:p.Pro94Leu NC_000019.10:42333697:C:T p.(Pro94Leu) NC_000019.10:42333697:C:T p.(Pro94Leu) NC_000019.10:42333697:C:T Identity +NM_000322.5:c.483C>G NP_000313.2:p.Ile161Met NC_000006.12:42721851:G:C p.(Ile161Met) NC_000006.12:42721851:G:C p.(Ile161Met) NC_000006.12:42721851:G:C Identity +NM_001318804.1:c.868C>A NP_001305733.1:p.Gln290Lys NC_000011.10:66424387:C:A p.(Gln290Lys) NC_000011.10:66424387:C:A p.(Gln290Lys) NC_000011.10:66424387:C:A Identity +NM_016148.5:c.5420C>T NP_057232.2:p.Pro1807Leu NC_000019.10:50666539:G:A p.(Pro1807Leu) NC_000019.10:50666539:G:A p.(Pro1807Leu) NC_000019.10:50666539:G:A Identity +NM_006877.4:c.970_973dup NP_006868.3:p.Lys325fs NC_000006.12:16295116:ACTCA:ACTCACTCA p.(Lys325ThrfsTer57) NC_000006.12:16295116:ACTCA:ACTCACTCA p.(Lys325ThrfsTer57) ERR:SPDI Analogous +NM_000718.4:c.3673A>G NP_000709.1:p.Ile1225Val NC_000009.12:138049277:A:G p.(Ile1225Val) NC_000009.12:138049277:A:G p.(Ile1225Val) NC_000009.12:138049277:A:G Identity +NM_175053.4:c.1175G>A NP_778223.2:p.Arg392Gln NC_000012.12:52568348:C:T p.(Arg392Gln) NC_000012.12:52568348:C:T p.(Arg392Gln) NC_000012.12:52568348:C:T Identity +NM_207363.3:c.4763G>A NP_997246.2:p.Arg1588Gln NC_000002.12:132782047:C:T p.(Arg1588Gln) NC_000002.12:132782047:C:T p.(Arg1588Gln) NC_000002.12:132782047:C:T Identity +NM_001363711.2:c.3055A>G NP_001350640.1:p.Met1019Val NC_000015.10:45100178:T:C p.(Met1019Val) NC_000015.10:45100178:T:C p.(Met1019Val) NC_000015.10:45100178:T:C Identity +NM_004444.5:c.2621T>C NP_004435.3:p.Leu874Pro NC_000007.14:100805557:A:G p.(Leu874Pro) NC_000007.14:100805557:A:G p.(Leu874Pro) NC_000007.14:100805557:A:G Identity +NM_001256850.1:c.54533C>T NP_001243779.1:p.Thr18178Ile NC_000002.12:178592548:G:A p.(Thr18178Ile) NC_000002.12:178592548:G:A p.(Thr18178Ile) NC_000002.12:178592548:G:A Identity +NM_001256850.1:c.52433A>T NP_001243779.1:p.Lys17478Met NC_000002.12:178597725:T:A p.(Lys17478Met) NC_000002.12:178597725:T:A p.(Lys17478Met) NC_000002.12:178597725:T:A Identity +NM_001379291.1:c.3978G>T NP_001366220.1:p.Glu1326Asp NC_000019.10:15238784:C:A p.(Glu1326Asp) NC_000019.10:15238784:C:A p.(Glu1326Asp) NC_000019.10:15238784:C:A Identity +NM_001130916.3:c.532C>T NP_001124388.1:p.Arg178Cys NC_000009.12:99138046:C:T p.(Arg178Cys) NC_000009.12:99138046:C:T p.(Arg178Cys) NC_000009.12:99138046:C:T Identity +NM_001075098.4:c.377G>A NP_001068566.1:p.Gly126Asp NC_000006.12:39925718:C:T p.(Gly126Asp) NC_000006.12:39925718:C:T p.(Gly126Asp) NC_000006.12:39925718:C:T Identity +NM_001005388.3:c.476C>T NP_001005388.2:p.Thr159Met NC_000001.11:204954891:C:T p.(Thr159Met) NC_000001.11:204954891:C:T p.(Thr159Met) NC_000001.11:204954891:C:T Identity +NM_001144763.2:c.4888G>A NP_001138235.1:p.Val1630Ile NC_000011.10:108510390:C:T p.(Val1630Ile) NC_000011.10:108510390:C:T p.(Val1630Ile) NC_000011.10:108510390:C:T Identity +NM_001080472.4:c.39dup NP_001073941.1:p.Thr14fs NC_000020.11:44311109:CCCCC:CCCCCC p.(Thr14AspfsTer138) NC_000020.11:44311109:CCCCC:CCCCCC p.(Thr14AspfsTer138) ERR:SPDI Analogous +NM_001330353.2:c.287C>G NP_001317282.1:p.Thr96Ser NC_000002.12:98610780:C:G p.(Thr96Ser) NC_000002.12:98610780:C:G p.(Thr96Ser) NC_000002.12:98610780:C:G Identity +NM_001256850.1:c.34622A>G NP_001243779.1:p.Lys11541Arg NC_000002.12:178652331:T:C p.(Lys11541Arg) NC_000002.12:178652331:T:C p.(Lys11541Arg) NC_000002.12:178652331:T:C Identity +NM_001256850.1:c.31750G>C NP_001243779.1:p.Glu10584Gln NC_000002.12:178684350:C:G p.(Glu10584Gln) NC_000002.12:178684350:C:G p.(Glu10584Gln) NC_000002.12:178684350:C:G Identity +NM_022042.4:c.2007C>G NP_071325.2:p.Asp669Glu NC_000004.12:988931:G:C p.(Asp669Glu) NC_000004.12:988931:G:C p.(Asp669Glu) NC_000004.12:988931:G:C Identity +NM_001007226.1:c.456del NP_001007227.1:p.Asp152fs NC_000017.11:49619004:A: p.(Asp152GlufsTer10) NC_000017.11:49619004:A: p.(Asp152GlufsTer10) NC_000017.11:49619004:A: Analogous +NM_001007226.1:c.285dup NP_001007227.1:p.Ser96fs NC_000017.11:49619300:C:CC p.(Ser96GlufsTer2) NC_000017.11:49619300:C:CC p.(Ser96GlufsTer2) ERR:SPDI Analogous +NM_020406.4:c.622T>G NP_065139.2:p.Phe208Val NC_000019.10:43360266:T:G p.(Phe208Val) NC_000019.10:43360266:T:G p.(Phe208Val) NC_000019.10:43360266:T:G Identity +NM_001282143.2:c.77G>A NP_001269072.1:p.Arg26His NC_000011.10:119172361:G:A p.(Arg26His) NC_000011.10:119172361:G:A p.(Arg26His) NC_000011.10:119172361:G:A Identity +NM_000707.5:c.559T>C NP_000698.1:p.Trp187Arg NC_000001.11:206116331:A:G p.(Trp187Arg) NC_000001.11:206116331:A:G p.(Trp187Arg) NC_000001.11:206116331:A:G Identity +NM_001128929.3:c.1424C>T NP_001122401.1:p.Pro475Leu NC_000003.12:77558087:C:T p.(Pro475Leu) NC_000003.12:77558087:C:T p.(Pro475Leu) NC_000003.12:77558087:C:T Identity +NM_000175.5:c.317G>A NP_000166.2:p.Arg106Gln NC_000019.10:34368616:G:A p.(Arg106Gln) NC_000019.10:34368616:G:A p.(Arg106Gln) NC_000019.10:34368616:G:A Identity +NM_001256850.1:c.82234A>G NP_001243779.1:p.Thr27412Ala NC_000002.12:178558196:T:C p.(Thr27412Ala) NC_000002.12:178558196:T:C p.(Thr27412Ala) NC_000002.12:178558196:T:C Identity +NM_001388404.1:c.959A>C NP_001375333.1:p.Asp320Ala NC_000001.11:226736499:T:G p.(Asp320Ala) NC_000001.11:226736499:T:G p.(Asp320Ala) NC_000001.11:226736499:T:G Identity +NM_001042467.3:c.811G>A NP_001035932.1:p.Gly271Ser NC_000002.12:237525735:G:A p.(Gly271Ser) NC_000002.12:237525735:G:A p.(Gly271Ser) NC_000002.12:237525735:G:A Identity +NM_001291980.2:c.1568C>T NP_001278909.1:p.Ser523Phe NC_000005.10:177095673:C:T p.(Ser523Phe) NC_000005.10:177095673:C:T p.(Ser523Phe) NC_000005.10:177095673:C:T Identity +NM_001244937.3:c.2443G>C NP_001231866.1:p.Glu815Gln NC_000003.12:49896400:C:G p.(Glu815Gln) NC_000003.12:49896400:C:G p.(Glu815Gln) NC_000003.12:49896400:C:G Identity +NM_001350162.2:c.5296C>A NP_001337091.1:p.Leu1766Ile NC_000008.11:30844870:G:T p.(Leu1766Ile) NC_000008.11:30844870:G:T p.(Leu1766Ile) NC_000008.11:30844870:G:T Identity +NM_001329953.2:c.497A>G NP_001316882.1:p.Lys166Arg NC_000006.12:143862213:A:G p.(Lys166Arg) NC_000006.12:143862213:A:G p.(Lys166Arg) NC_000006.12:143862213:A:G Identity +NM_024637.5:c.713C>G NP_078913.3:p.Pro238Arg NC_000007.14:100160675:G:C p.(Pro238Arg) NC_000007.14:100160675:G:C p.(Pro238Arg) NC_000007.14:100160675:G:C Identity +NM_002473.6:c.2290C>T NP_002464.1:p.Arg764Cys NC_000022.11:36304094:G:A p.(Arg764Cys) NC_000022.11:36304094:G:A p.(Arg764Cys) NC_000022.11:36304094:G:A Identity +NM_000138.5:c.5093del NP_000129.3:p.Asn1698fs NC_000015.10:48463212:TTT:TT p.(Asn1698ThrfsTer17) NC_000015.10:48463212:TTT:TT p.(Asn1698ThrfsTer17) NC_000015.10:48463212:T: Analogous +NM_025114.4:c.2456A>T NP_079390.3:p.Gln819Leu NC_000012.12:88109092:T:A p.(Gln819Leu) NC_000012.12:88109092:T:A p.(Gln819Leu) NC_000012.12:88109092:T:A Identity +NM_025009.5:c.2115G>T NP_079285.2:p.Glu705Asp NC_000004.12:55999406:G:T p.(Glu705Asp) NC_000004.12:55999406:G:T p.(Glu705Asp) NC_000004.12:55999406:G:T Identity +NM_001378183.1:c.2683T>A NP_001365112.1:p.Tyr895Asn NC_000018.10:10773513:A:T p.(Tyr895Asn) NC_000018.10:10773513:A:T p.(Tyr895Asn) NC_000018.10:10773513:A:T Identity +NM_001365951.3:c.3020G>A NP_001352880.1:p.Arg1007His NC_000001.11:10334614:G:A p.(Arg1007His) NC_000001.11:10334614:G:A p.(Arg1007His) NC_000001.11:10334614:G:A Identity +NM_001039111.3:c.2450G>A NP_001034200.1:p.Arg817Gln NC_000003.12:32891653:G:A p.(Arg817Gln) NC_000003.12:32891653:G:A p.(Arg817Gln) NC_000003.12:32891653:G:A Identity +NM_001371986.1:c.520C>T NP_001358915.1:p.Arg174Ter NC_000002.12:209777478:C:T p.(Arg174Ter) NC_000002.12:209777478:C:T p.(Arg174Ter) NC_000002.12:209777478:C:T Identity +NM_001146289.2:c.1980dup NP_001139761.1:p.Val661fs NC_000001.11:42747346:T:TT p.(Val661SerfsTer41) NC_000001.11:42747346:T:TT p.(Val661SerfsTer41) ERR:SPDI Analogous +NM_001201457.2:c.4297G>A NP_001188386.1:p.Glu1433Lys NC_000017.11:58559560:C:T p.(Glu1433Lys) NC_000017.11:58559560:C:T p.(Glu1433Lys) NC_000017.11:58559560:C:T Identity +NM_001127493.3:c.2128C>A NP_001120965.1:p.Pro710Thr NC_000004.12:113288399:C:A p.(Pro710Thr) NC_000004.12:113288399:C:A p.(Pro710Thr) NC_000004.12:113288399:C:A Identity +NM_005562.3:c.2420G>A NP_005553.2:p.Ser807Asn NC_000001.11:183235693:G:A p.(Ser807Asn) NC_000001.11:183235693:G:A p.(Ser807Asn) NC_000001.11:183235693:G:A Identity +NM_001364858.1:c.128TCT[1] NP_001351787.1:p.Phe44del NC_000007.14:4783770:CTTCTTCT:CTTCT p.(Phe44del) NC_000007.14:4783772:T:TCT ERR:Parse ERR:Parse Identity +NM_001369.3:c.2047C>T NP_001360.1:p.Arg683Trp NC_000005.10:13901256:G:A p.(Arg683Trp) NC_000005.10:13901256:G:A p.(Arg683Trp) NC_000005.10:13901256:G:A Identity +NM_000138.5:c.6943A>G NP_000129.3:p.Thr2315Ala NC_000015.10:48428399:T:C p.(Thr2315Ala) NC_000015.10:48428399:T:C p.(Thr2315Ala) NC_000015.10:48428399:T:C Identity +NM_003105.6:c.5765A>C NP_003096.2:p.Tyr1922Ser NC_000011.10:121619792:A:C p.(Tyr1922Ser) NC_000011.10:121619792:A:C p.(Tyr1922Ser) NC_000011.10:121619792:A:C Identity +NM_000940.3:c.5G>A NP_000931.1:p.Gly2Glu NC_000007.14:95396345:C:T p.(Gly2Glu) NC_000007.14:95396345:C:T p.(Gly2Glu) NC_000007.14:95396345:C:T Identity +NM_001173523.2:c.2228C>T NP_001166994.1:p.Thr743Ile NC_000004.12:30723649:C:T p.(Thr743Ile) NC_000004.12:30723649:C:T p.(Thr743Ile) NC_000004.12:30723649:C:T Identity +NM_004342.7:c.1246A>G NP_004333.1:p.Ile416Val NC_000007.14:134958239:A:G p.(Ile416Val) NC_000007.14:134958239:A:G p.(Ile416Val) NC_000007.14:134958239:A:G Identity +NM_001320759.2:c.2032A>G NP_001307688.1:p.Asn678Asp NC_000017.11:18278184:T:C p.(Asn678Asp) NC_000017.11:18278184:T:C p.(Asn678Asp) NC_000017.11:18278184:T:C Identity +NM_014757.5:c.569G>A NP_055572.1:p.Arg190His NC_000005.10:179765578:G:A p.(Arg190His) NC_000005.10:179765578:G:A p.(Arg190His) NC_000005.10:179765578:G:A Identity +NM_001042704.2:c.935C>T NP_001036169.1:p.Thr312Ile NC_000001.11:16028085:C:T p.(Thr312Ile) NC_000001.11:16028085:C:T p.(Thr312Ile) NC_000001.11:16028085:C:T Identity +NM_001369906.1:c.256C>T NP_001356835.1:p.Arg86Trp NC_000022.11:23575035:G:A p.(Arg86Trp) NC_000022.11:23575035:G:A p.(Arg86Trp) NC_000022.11:23575035:G:A Identity +NM_018557.3:c.6436G>T NP_061027.2:p.Val2146Phe NC_000002.12:140700612:C:A p.(Val2146Phe) NC_000002.12:140700612:C:A p.(Val2146Phe) NC_000002.12:140700612:C:A Identity +NM_001276700.2:c.1549G>A NP_001263629.1:p.Gly517Arg NC_000011.10:281282:G:A p.(Gly517Arg) NC_000011.10:281282:G:A p.(Gly517Arg) NC_000011.10:281282:G:A Identity +NM_001276713.2:c.1483C>G NP_001263642.1:p.Leu495Val NC_000005.10:75669340:C:G p.(Leu495Val) NC_000005.10:75669340:C:G p.(Leu495Val) NC_000005.10:75669340:C:G Identity +NM_001522.3:c.220G>C NP_001513.2:p.Val74Leu NC_000023.11:109475716:C:G p.(Val74Leu) NC_000023.11:109475716:C:G p.(Val74Leu) NC_000023.11:109475716:C:G Identity +NM_001256850.1:c.13190G>A NP_001243779.1:p.Gly4397Asp NC_000002.12:178738311:C:T p.(Gly4397Asp) NC_000002.12:178738311:C:T p.(Gly4397Asp) NC_000002.12:178738311:C:T Identity +NM_002253.4:c.2022G>C NP_002244.1:p.Glu674Asp NC_000004.12:55102473:C:G p.(Glu674Asp) NC_000004.12:55102473:C:G p.(Glu674Asp) NC_000004.12:55102473:C:G Identity +NM_006361.6:c.105C>A NP_006352.2:p.Ser35Arg NC_000017.11:48728488:G:T p.(Ser35Arg) NC_000017.11:48728488:G:T p.(Ser35Arg) NC_000017.11:48728488:G:T Identity +NM_006361.6:c.188G>T NP_006352.2:p.Cys63Phe NC_000017.11:48728405:C:A p.(Cys63Phe) NC_000017.11:48728405:C:A p.(Cys63Phe) NC_000017.11:48728405:C:A Identity +NM_001127231.3:c.3476G>A NP_001120703.1:p.Ser1159Asn NC_000007.14:70790763:G:A p.(Ser1159Asn) NC_000007.14:70790763:G:A p.(Ser1159Asn) NC_000007.14:70790763:G:A Identity +NM_006361.6:c.678del NP_006352.2:p.Gln227fs NC_000017.11:48726966:CCCC:CCC p.(Gln227SerfsTer52) NC_000017.11:48726966:CCCC:CCC p.(Gln227SerfsTer52) NC_000017.11:48726966:C: Analogous +NM_006361.6:c.706del NP_006352.2:p.Ala236fs NC_000017.11:48726938:C: p.(Ala236ArgfsTer43) NC_000017.11:48726938:C: p.(Ala236ArgfsTer43) NC_000017.11:48726938:C: Analogous +NM_001164507.2:c.20896C>T NP_001157979.2:p.Arg6966Cys NC_000002.12:151538240:G:A p.(Arg6966Cys) NC_000002.12:151538240:G:A p.(Arg6966Cys) NC_000002.12:151538240:G:A Identity +NM_012414.4:c.3616G>T NP_036546.2:p.Asp1206Tyr NC_000001.11:220153996:C:A p.(Asp1206Tyr) NC_000001.11:220153996:C:A p.(Asp1206Tyr) NC_000001.11:220153996:C:A Identity +NM_001142298.2:c.76C>T NP_001135770.1:p.Arg26Cys NC_000005.10:179823883:C:T p.(Arg26Cys) NC_000005.10:179823883:C:T p.(Arg26Cys) NC_000005.10:179823883:C:T Identity +NM_032409.3:c.1481C>T NP_115785.1:p.Ala494Val NC_000001.11:20649223:C:T p.(Ala494Val) NC_000001.11:20649223:C:T p.(Ala494Val) NC_000001.11:20649223:C:T Identity +NM_020732.3:c.2190del NP_065783.3:p.Ser730fs NC_000006.12:157084813:C: ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:Data provider error: ValueError: Transcript NM_020732.3 not found ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020732.3, alt_ac=NM_020732.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020732.3 not found +NM_017633.3:c.64C>G NP_060103.2:p.Pro22Ala NC_000006.12:81752077:G:C p.(Pro22Ala) NC_000006.12:81752077:G:C p.(Pro22Ala) NC_000006.12:81752077:G:C Identity +NM_001114120.3:c.1459T>A NP_001107592.1:p.Ser487Thr NC_000001.11:68482348:A:T p.(Ser487Thr) NC_000001.11:68482348:A:T p.(Ser487Thr) NC_000001.11:68482348:A:T Identity +NM_001368263.1:c.1607C>T NP_001355192.1:p.Pro536Leu NC_000003.12:45496357:C:T p.(Pro536Leu) NC_000003.12:45496357:C:T p.(Pro536Leu) NC_000003.12:45496357:C:T Identity +NM_001256850.1:c.91889A>G NP_001243779.1:p.Glu30630Gly NC_000002.12:178543160:T:C p.(Glu30630Gly) NC_000002.12:178543160:T:C p.(Glu30630Gly) NC_000002.12:178543160:T:C Identity +NM_001142784.3:c.343C>T NP_001136256.1:p.Arg115Cys NC_000009.12:34657045:C:T p.(Arg115Cys) NC_000009.12:34657045:C:T p.(Arg115Cys) NC_000009.12:34657045:C:T Identity +NM_001164239.2:c.1564T>A NP_001157711.1:p.Phe522Ile NC_000006.12:30660042:A:T p.(Phe522Ile) NC_000006.12:30660042:A:T p.(Phe522Ile) NC_000006.12:30660042:A:T Identity +NM_001171083.2:c.1031C>T NP_001164554.1:p.Pro344Leu NC_000002.12:130156103:G:A p.(Pro344Leu) NC_000002.12:130156103:G:A p.(Pro344Leu) NC_000002.12:130156103:G:A Identity +NM_001164507.2:c.24238dup NP_001157979.2:p.Thr8080fs NC_000002.12:151497687:TT:TTT p.(Thr8080AsnfsTer20) NC_000002.12:151497687:TT:TTT p.(Thr8080AsnfsTer20) ERR:SPDI Analogous +NM_000116.5:c.811C>T NP_000107.1:p.Gln271Ter NC_000023.11:154420935:C:T p.(Gln271Ter) NC_000023.11:154420935:C:T p.(Gln271Ter) NC_000023.11:154420935:C:T Identity +NM_000682.7:c.943G>A NP_000673.2:p.Val315Met NC_000002.12:96115206:C:T p.(Val315Met) NC_000002.12:96115206:C:T p.(Val315Met) NC_000002.12:96115206:C:T Identity +NM_000369.5:c.1783G>A NP_000360.2:p.Val595Ile NC_000014.9:81143840:G:A p.(Val595Ile) NC_000014.9:81143840:G:A p.(Val595Ile) NC_000014.9:81143840:G:A Identity +NM_004994.3:c.70C>T NP_004985.2:p.Arg24Cys NC_000020.11:46008995:C:T p.(Arg24Cys) NC_000020.11:46008995:C:T p.(Arg24Cys) NC_000020.11:46008995:C:T Identity +NM_001308319.2:c.8128A>G NP_001295248.1:p.Met2710Val NC_000016.10:53324328:A:G p.(Met2710Val) NC_000016.10:53324328:A:G p.(Met2710Val) NC_000016.10:53324328:A:G Identity +NM_001001344.3:c.197C>T NP_001001344.1:p.Ser66Leu NC_000023.11:153536443:C:T p.(Ser66Leu) NC_000023.11:153536443:C:T p.(Ser66Leu) NC_000023.11:153536443:C:T Identity +NM_001329126.2:c.4828A>G NP_001316055.1:p.Ile1610Val NC_000003.12:132503309:A:G p.(Ile1610Val) NC_000003.12:132503309:A:G p.(Ile1610Val) NC_000003.12:132503309:A:G Identity +NM_001164496.2:c.3755C>A NP_001157968.1:p.Pro1252His NC_000003.12:113330528:G:T p.(Pro1252His) NC_000003.12:113330528:G:T p.(Pro1252His) NC_000003.12:113330528:G:T Identity +NM_001178096.2:c.487C>T NP_001171567.1:p.Arg163Trp NC_000001.11:94533193:G:A p.(Arg163Trp) NC_000001.11:94533193:G:A p.(Arg163Trp) NC_000001.11:94533193:G:A Identity +NM_001572.5:c.760A>G NP_001563.2:p.Thr254Ala NC_000011.10:613956:T:C p.(Thr254Ala) NC_000011.10:613956:T:C p.(Thr254Ala) NC_000011.10:613956:T:C Identity +NM_001165412.2:c.1842G>T NP_001158884.1:p.Leu614Phe NC_000004.12:102606587:G:T p.(Leu614Phe) NC_000004.12:102606587:G:T p.(Leu614Phe) NC_000004.12:102606587:G:T Identity +NM_020120.4:c.2006C>T NP_064505.1:p.Ala669Val NC_000002.12:128145956:C:T p.(Ala669Val) NC_000002.12:128145956:C:T p.(Ala669Val) NC_000002.12:128145956:C:T Identity +NM_031476.4:c.432C>A NP_113664.1:p.Ser144Arg NC_000016.10:84849456:C:A p.(Ser144Arg) NC_000016.10:84849456:C:A p.(Ser144Arg) NC_000016.10:84849456:C:A Identity +NM_002241.5:c.755C>G NP_002232.2:p.Pro252Arg NC_000001.11:160041777:G:C p.(Pro252Arg) NC_000001.11:160041777:G:C p.(Pro252Arg) NC_000001.11:160041777:G:C Identity +NM_001079846.1:c.2740_2749dup NP_001073315.1:p.Gln917fs NC_000016.10:3770586:GGGCGTGCAC:GGGCGTGCACGGGCGTGCAC p.(Gln917ArgfsTer18) NC_000016.10:3770586:GGGCGTGCAC:GGGCGTGCACGGGCGTGCAC p.(Gln917ArgfsTer18) ERR:SPDI Analogous +NM_000235.4:c.158T>G NP_000226.2:p.Val53Gly NC_000010.11:89245746:A:C p.(Val53Gly) NC_000010.11:89245746:A:C p.(Val53Gly) NC_000010.11:89245746:A:C Identity +NM_001081.4:c.9125A>G NP_001072.2:p.Asn3042Ser NC_000010.11:16874484:T:C p.(Asn3042Ser) NC_000010.11:16874484:T:C p.(Asn3042Ser) NC_000010.11:16874484:T:C Identity +NM_001128126.3:c.154T>C NP_001121598.1:p.Tyr52His NC_000014.9:31069857:T:C p.(Tyr52His) NC_000014.9:31069857:T:C p.(Tyr52His) NC_000014.9:31069857:T:C Identity +NM_000133.4:c.8G>A NP_000124.1:p.Arg3His NC_000023.11:139530771:G:A p.(Arg3His) NC_000023.11:139530771:G:A p.(Arg3His) NC_000023.11:139530771:G:A Identity +NM_001290020.2:c.2983G>A NP_001276949.1:p.Asp995Asn NC_000010.11:27860662:C:T p.(Asp995Asn) NC_000010.11:27860662:C:T p.(Asp995Asn) NC_000010.11:27860662:C:T Identity +NM_014845.6:c.401A>C NP_055660.1:p.Tyr134Ser NC_000006.12:109727219:A:C p.(Tyr134Ser) NC_000006.12:109727219:A:C p.(Tyr134Ser) NC_000006.12:109727219:A:C Identity +NM_001184.4:c.3433A>G NP_001175.2:p.Ile1145Val NC_000003.12:142542681:T:C p.(Ile1145Val) NC_000003.12:142542681:T:C p.(Ile1145Val) NC_000003.12:142542681:T:C Identity +NM_001081.4:c.9206C>T NP_001072.2:p.Thr3069Ile NC_000010.11:16874403:G:A p.(Thr3069Ile) NC_000010.11:16874403:G:A p.(Thr3069Ile) NC_000010.11:16874403:G:A Identity +NM_001005373.4:c.1406G>A NP_001005373.1:p.Arg469Gln NC_000009.12:127489501:G:A p.(Arg469Gln) NC_000009.12:127489501:G:A p.(Arg469Gln) NC_000009.12:127489501:G:A Identity +NM_000384.3:c.2411G>A NP_000375.3:p.Arg804His NC_000002.12:21024957:C:T p.(Arg804His) NC_000002.12:21024957:C:T p.(Arg804His) NC_000002.12:21024957:C:T Identity +NM_001281428.2:c.1889C>T NP_001268357.1:p.Ala630Val NC_000009.12:34517342:C:T p.(Ala630Val) NC_000009.12:34517342:C:T p.(Ala630Val) NC_000009.12:34517342:C:T Identity +NM_001195227.2:c.1442C>G NP_001182156.1:p.Ser481Cys NC_000019.10:49182755:C:G p.(Ser481Cys) NC_000019.10:49182755:C:G p.(Ser481Cys) NC_000019.10:49182755:C:G Identity +NM_025014.2:c.601G>C NP_079290.1:p.Asp201His NC_000017.11:8312639:G:C p.(Asp201His) NC_000017.11:8312639:G:C p.(Asp201His) NC_000017.11:8312639:G:C Identity +NM_001378355.1:c.275A>T NP_001365284.1:p.Tyr92Phe NC_000019.10:49819265:A:T p.(Tyr92Phe) NC_000019.10:49819265:A:T p.(Tyr92Phe) NC_000019.10:49819265:A:T Identity +NM_001142348.2:c.238G>A NP_001135820.1:p.Gly80Ser NC_000011.10:118137073:C:T p.(Gly80Ser) NC_000011.10:118137073:C:T p.(Gly80Ser) NC_000011.10:118137073:C:T Identity +NM_001184985.2:c.490C>T NP_001171914.1:p.Arg164Cys NC_000012.12:754054:C:T p.(Arg164Cys) NC_000012.12:754054:C:T p.(Arg164Cys) NC_000012.12:754054:C:T Identity +NM_001286075.2:c.1391C>T NP_001273004.1:p.Thr464Met NC_000016.10:28900581:C:T p.(Thr464Met) NC_000016.10:28900581:C:T p.(Thr464Met) NC_000016.10:28900581:C:T Identity +NM_001164507.2:c.8063A>G NP_001157979.2:p.His2688Arg NC_000002.12:151643246:T:C p.(His2688Arg) NC_000002.12:151643246:T:C p.(His2688Arg) NC_000002.12:151643246:T:C Identity +NM_022168.4:c.2962G>T NP_071451.2:p.Val988Leu NC_000002.12:162267315:C:A p.(Val988Leu) NC_000002.12:162267315:C:A p.(Val988Leu) NC_000002.12:162267315:C:A Identity +NM_001031714.4:c.2498T>C NP_001026884.3:p.Leu833Pro NC_000014.9:104712440:T:C p.(Leu833Pro) NC_000014.9:104712440:T:C p.(Leu833Pro) NC_000014.9:104712440:T:C Identity +NM_015512.5:c.8630A>T NP_056327.4:p.Asp2877Val NC_000003.12:52386163:A:T p.(Asp2877Val) NC_000003.12:52386163:A:T p.(Asp2877Val) NC_000003.12:52386163:A:T Identity +NM_005357.4:c.1491A>T NP_005348.2:p.Lys497Asn NC_000019.10:42408250:T:A p.(Lys497Asn) NC_000019.10:42408250:T:A p.(Lys497Asn) NC_000019.10:42408250:T:A Identity +NM_001160306.2:c.4448_4450del NP_001153778.1:p.Phe1483del NC_000021.9:32631125:AGAAG:AG p.(Phe1483del) NC_000021.9:32631125:AGAAG:AG p.(Phe1483del) NC_000021.9:32631125:AGA: Identity +NM_001018088.3:c.7276G>A NP_001018098.1:p.Val2426Ile NC_000015.10:61920267:C:T p.(Val2426Ile) NC_000015.10:61920267:C:T p.(Val2426Ile) NC_000015.10:61920267:C:T Identity +NM_004354.3:c.83A>G NP_004345.1:p.Glu28Gly NC_000004.12:77158614:A:G p.(Glu28Gly) NC_000004.12:77158614:A:G p.(Glu28Gly) NC_000004.12:77158614:A:G Identity +NM_000233.4:c.1169A>G NP_000224.2:p.Lys390Arg NC_000002.12:48688627:T:C p.(Lys390Arg) NC_000002.12:48688627:T:C p.(Lys390Arg) NC_000002.12:48688627:T:C Identity +NM_000927.5:c.781A>G NP_000918.2:p.Ile261Val NC_000007.14:87561308:T:C p.(Ile261Val) NC_000007.14:87561308:T:C p.(Ile261Val) NC_000007.14:87561308:T:C Identity +NM_006901.4:c.5300G>A NP_008832.2:p.Gly1767Glu NC_000015.10:71883691:C:T p.(Gly1767Glu) NC_000015.10:71883691:C:T p.(Gly1767Glu) NC_000015.10:71883691:C:T Identity +NM_016052.4:c.816del NP_057136.2:p.Ser272fs NC_000001.11:218331057:C: p.(Ser272ArgfsTer15) NC_000001.11:218331057:C: p.(Ser272ArgfsTer15) NC_000001.11:218331057:C: Analogous +NM_001204171.2:c.22G>A NP_001191100.1:p.Ala8Thr NC_000001.11:204525539:G:A p.(Ala8Thr) NC_000001.11:204525539:G:A p.(Ala8Thr) NC_000001.11:204525539:G:A Identity +NM_001261406.2:c.278T>G NP_001248335.1:p.Phe93Cys NC_000009.12:13224488:A:C p.(Phe93Cys) NC_000009.12:13224488:A:C p.(Phe93Cys) NC_000009.12:13224488:A:C Identity +NM_001142864.4:c.5694G>C NP_001136336.2:p.Glu1898Asp NC_000016.10:88720722:C:G p.(Glu1898Asp) NC_000016.10:88720722:C:G p.(Glu1898Asp) NC_000016.10:88720722:C:G Identity +NM_003235.5:c.4537G>T NP_003226.4:p.Asp1513Tyr NC_000008.11:132923345:G:T p.(Asp1513Tyr) NC_000008.11:132923345:G:T p.(Asp1513Tyr) NC_000008.11:132923345:G:T Identity +NM_001394547.1:c.2812T>G NP_001381476.1:p.Ser938Ala NC_000015.10:62717623:T:G p.(Ser938Ala) NC_000015.10:62717623:T:G p.(Ser938Ala) NC_000015.10:62717623:T:G Identity +NM_021942.6:c.3342C>G NP_068761.4:p.Thr1114= NC_000004.12:183708558:C:G p.(Thr1114=) NC_000004.12:183708558:C:G p.(Thr1114=) NC_000004.12:183708558:C:G Identity +NM_033225.6:c.5344C>A NP_150094.5:p.Gln1782Lys NC_000008.11:3189965:G:T p.(Gln1782Lys) NC_000008.11:3189965:G:T p.(Gln1782Lys) NC_000008.11:3189965:G:T Identity +NM_001351444.2:c.4304T>C NP_001338373.1:p.Leu1435Ser NC_000006.12:87258352:T:C p.(Leu1435Ser) NC_000006.12:87258352:T:C p.(Leu1435Ser) NC_000006.12:87258352:T:C Identity +NM_001199865.2:c.3065A>G NP_001186794.1:p.His1022Arg NC_000020.11:16378936:T:C p.(His1022Arg) NC_000020.11:16378936:T:C p.(His1022Arg) NC_000020.11:16378936:T:C Identity +NM_001008496.3:c.517C>T NP_001008496.2:p.Arg173Cys NC_000022.11:24756543:G:A p.(Arg173Cys) NC_000022.11:24756543:G:A p.(Arg173Cys) NC_000022.11:24756543:G:A Identity +NM_001347997.2:c.577A>G NP_001334926.1:p.Thr193Ala NC_000009.12:106924488:A:G p.(Thr193Ala) NC_000009.12:106924488:A:G p.(Thr193Ala) NC_000009.12:106924488:A:G Identity +NM_001130955.2:c.344C>A NP_001124427.2:p.Pro115Gln NC_000019.10:7440445:C:A p.(Pro115Gln) NC_000019.10:7440445:C:A p.(Pro115Gln) NC_000019.10:7440445:C:A Identity +NM_004701.4:c.299T>C NP_004692.1:p.Met100Thr NC_000015.10:59114474:T:C p.(Met100Thr) NC_000015.10:59114474:T:C p.(Met100Thr) NC_000015.10:59114474:T:C Identity +NM_178434.3:c.256C>T NP_848521.1:p.Arg86Cys NC_000001.11:152600986:C:T p.(Arg86Cys) NC_000001.11:152600986:C:T p.(Arg86Cys) NC_000001.11:152600986:C:T Identity +NM_001363711.2:c.700C>T NP_001350640.1:p.Pro234Ser NC_000015.10:45111398:G:A p.(Pro234Ser) NC_000015.10:45111398:G:A p.(Pro234Ser) NC_000015.10:45111398:G:A Identity +NM_012096.3:c.1002C>G NP_036228.1:p.Asp334Glu NC_000003.12:57249497:C:G p.(Asp334Glu) NC_000003.12:57249497:C:G p.(Asp334Glu) NC_000003.12:57249497:C:G Identity +NM_001164665.2:c.3052A>T NP_001158137.1:p.Ile1018Leu NC_000007.14:138911238:T:A p.(Ile1018Leu) NC_000007.14:138911238:T:A p.(Ile1018Leu) NC_000007.14:138911238:T:A Identity +NM_145292.4:c.538G>T NP_660335.2:p.Asp180Tyr NC_000007.14:151987160:G:T p.(Asp180Tyr) NC_000007.14:151987160:G:T p.(Asp180Tyr) NC_000007.14:151987160:G:T Identity +NM_001085377.2:c.2143G>C NP_001078846.2:p.Gly715Arg NC_000005.10:113064053:C:G p.(Gly715Arg) NC_000005.10:113064053:C:G p.(Gly715Arg) NC_000005.10:113064053:C:G Identity +NM_001345887.2:c.1102G>A NP_001332816.1:p.Ala368Thr NC_000010.11:99330488:G:A p.(Ala368Thr) NC_000010.11:99330488:G:A p.(Ala368Thr) NC_000010.11:99330488:G:A Identity +NM_001286365.2:c.310C>T NP_001273294.1:p.Arg104Trp NC_000001.11:36171233:C:T p.(Arg104Trp) NC_000001.11:36171233:C:T p.(Arg104Trp) NC_000001.11:36171233:C:T Identity +NM_001303012.2:c.394G>A NP_001289941.1:p.Asp132Asn NC_000001.11:2479936:G:A p.(Asp132Asn) NC_000001.11:2479936:G:A p.(Asp132Asn) NC_000001.11:2479936:G:A Identity +NM_001306193.2:c.1543C>T NP_001293122.1:p.Pro515Ser NC_000023.11:132078428:G:A p.(Pro515Ser) NC_000023.11:132078428:G:A p.(Pro515Ser) NC_000023.11:132078428:G:A Identity +NM_001320395.1:c.38A>G NP_001307324.1:p.Lys13Arg NC_000003.12:101574252:A:G p.(Lys13Arg) NC_000003.12:101574252:A:G p.(Lys13Arg) NC_000003.12:101574252:A:G Identity +NM_001284292.2:c.3127G>A NP_001271221.2:p.Glu1043Lys NC_000015.10:34357134:G:A p.(Glu1043Lys) NC_000015.10:34357134:G:A p.(Glu1043Lys) NC_000015.10:34357134:G:A Identity +NM_002976.4:c.4928G>A NP_002967.2:p.Arg1643Gln NC_000002.12:166405700:C:T p.(Arg1643Gln) NC_000002.12:166405700:C:T p.(Arg1643Gln) NC_000002.12:166405700:C:T Identity +NM_000751.3:c.480C>T NP_000742.1:p.Phe160= NC_000002.12:232528626:C:T p.(Phe160=) NC_000002.12:232528626:C:T p.(Phe160=) NC_000002.12:232528626:C:T Identity +NM_001146094.2:c.557C>A NP_001139566.1:p.Ser186Tyr NC_000015.10:30905219:C:A p.(Ser186Tyr) NC_000015.10:30905219:C:A p.(Ser186Tyr) NC_000015.10:30905219:C:A Identity +NM_182985.5:c.34G>A NP_892030.3:p.Asp12Asn NC_000015.10:44754926:G:A p.(Asp12Asn) NC_000015.10:44754926:G:A p.(Asp12Asn) NC_000015.10:44754926:G:A Identity +NM_000547.6:c.1082G>T NP_000538.3:p.Arg361Leu NC_000002.12:1477347:G:T p.(Arg361Leu) NC_000002.12:1477347:G:T p.(Arg361Leu) NC_000002.12:1477347:G:T Identity +NM_001378477.3:c.758C>T NP_001365406.2:p.Thr253Met NC_000023.11:41474225:C:T p.(Thr253Met) NC_000023.11:41474225:C:T p.(Thr253Met) NC_000023.11:41474225:C:T Identity +NM_001145260.2:c.1532C>T NP_001138732.1:p.Ser511Leu NC_000010.11:46010436:G:A p.(Ser511Leu) NC_000010.11:46010436:G:A p.(Ser511Leu) NC_000010.11:46010436:G:A Identity +NM_173481.4:c.702C>G NP_775752.1:p.Phe234Leu NC_000019.10:757647:C:G p.(Phe234Leu) NC_000019.10:757647:C:G p.(Phe234Leu) NC_000019.10:757647:C:G Identity +NM_001306193.2:c.1513C>G NP_001293122.1:p.His505Asp NC_000023.11:132078458:G:C p.(His505Asp) NC_000023.11:132078458:G:C p.(His505Asp) NC_000023.11:132078458:G:C Identity +NM_017539.2:c.1685C>T NP_060009.1:p.Ala562Val NC_000016.10:21120753:G:A p.(Ala562Val) NC_000016.10:21120753:G:A p.(Ala562Val) NC_000016.10:21120753:G:A Identity +NM_001375323.1:c.1625A>T NP_001362252.1:p.Asp542Val NC_000006.12:144793872:A:T p.(Asp542Val) NC_000006.12:144793872:A:T p.(Asp542Val) NC_000006.12:144793872:A:T Identity +NM_022166.4:c.1742C>T NP_071449.1:p.Pro581Leu NC_000016.10:17138376:G:A p.(Pro581Leu) NC_000016.10:17138376:G:A p.(Pro581Leu) NC_000016.10:17138376:G:A Identity +NM_152783.5:c.76C>T NP_689996.4:p.Arg26Trp NC_000002.12:241735299:C:T p.(Arg26Trp) NC_000002.12:241735299:C:T p.(Arg26Trp) NC_000002.12:241735299:C:T Identity +NM_002169.3:c.343C>T NP_002160.1:p.Gln115Ter NC_000009.12:21304913:G:A p.(Gln115Ter) NC_000009.12:21304913:G:A p.(Gln115Ter) NC_000009.12:21304913:G:A Identity +NM_000301.5:c.2087G>A NP_000292.1:p.Arg696Gln NC_000006.12:160741378:G:A p.(Arg696Gln) NC_000006.12:160741378:G:A p.(Arg696Gln) NC_000006.12:160741378:G:A Identity +NM_001080495.3:c.8119G>A NP_001073964.2:p.Ala2707Thr NC_000007.14:5312771:C:T p.(Ala2707Thr) NC_000007.14:5312771:C:T p.(Ala2707Thr) NC_000007.14:5312771:C:T Identity +NM_007118.4:c.2480G>A NP_009049.2:p.Arg827His NC_000005.10:14363819:G:A p.(Arg827His) NC_000005.10:14363819:G:A p.(Arg827His) NC_000005.10:14363819:G:A Identity +NM_001366010.2:c.2369A>G NP_001352939.1:p.Tyr790Cys NC_000001.11:227081003:T:C p.(Tyr790Cys) NC_000001.11:227081003:T:C p.(Tyr790Cys) NC_000001.11:227081003:T:C Identity +NM_000170.3:c.190G>A NP_000161.2:p.Ala64Thr NC_000009.12:6645309:C:T p.(Ala64Thr) NC_000009.12:6645309:C:T p.(Ala64Thr) NC_000009.12:6645309:C:T Identity +NM_022361.5:c.395G>A NP_071756.2:p.Ser132Asn NC_000006.12:105161514:C:T p.(Ser132Asn) NC_000006.12:105161514:C:T p.(Ser132Asn) NC_000006.12:105161514:C:T Identity +NM_001139490.1:c.778G>A NP_001132962.1:p.Glu260Lys NC_000002.12:238329204:G:A p.(Glu260Lys) NC_000002.12:238329204:G:A p.(Glu260Lys) NC_000002.12:238329204:G:A Identity +NM_001042403.3:c.1087G>A NP_001035862.1:p.Gly363Ser NC_000012.12:95533169:C:T p.(Gly363Ser) NC_000012.12:95533169:C:T p.(Gly363Ser) NC_000012.12:95533169:C:T Identity +NM_152577.4:c.98T>A NP_689790.1:p.Ile33Asn NC_000023.11:22273088:T:A p.(Ile33Asn) NC_000023.11:22273088:T:A p.(Ile33Asn) NC_000023.11:22273088:T:A Identity +NM_001098623.2:c.8137G>A NP_001092093.2:p.Ala2713Thr NC_000001.11:228280735:G:A p.(Ala2713Thr) NC_000001.11:228280735:G:A p.(Ala2713Thr) NC_000001.11:228280735:G:A Identity +NM_001130053.5:c.805G>A NP_001123525.3:p.Glu269Lys NC_000008.11:143589276:C:T p.(Glu269Lys) NC_000008.11:143589276:C:T p.(Glu269Lys) NC_000008.11:143589276:C:T Identity +NM_001363910.2:c.2333C>T NP_001350839.1:p.Ala778Val NC_000002.12:209694514:C:T p.(Ala778Val) NC_000002.12:209694514:C:T p.(Ala778Val) NC_000002.12:209694514:C:T Identity +NM_000177.5:c.2003G>T NP_000168.1:p.Arg668Leu NC_000009.12:121328977:G:T p.(Arg668Leu) NC_000009.12:121328977:G:T p.(Arg668Leu) NC_000009.12:121328977:G:T Identity +NM_001290321.3:c.1351C>A NP_001277250.1:p.Pro451Thr NC_000005.10:119133166:C:A p.(Pro451Thr) NC_000005.10:119133166:C:A p.(Pro451Thr) NC_000005.10:119133166:C:A Identity +NM_001276264.2:c.398G>T NP_001263193.1:p.Arg133Leu NC_000015.10:45120747:C:A p.(Arg133Leu) NC_000015.10:45120747:C:A p.(Arg133Leu) NC_000015.10:45120747:C:A Identity +NM_001140.5:c.268G>C NP_001131.3:p.Asp90His NC_000017.11:4639498:C:G p.(Asp90His) NC_000017.11:4639498:C:G p.(Asp90His) NC_000017.11:4639498:C:G Identity +NM_004297.4:c.97C>T NP_004288.1:p.Arg33Cys NC_000009.12:77647696:G:A p.(Arg33Cys) NC_000009.12:77647696:G:A p.(Arg33Cys) NC_000009.12:77647696:G:A Identity +NM_001256182.2:c.6760G>A NP_001243111.1:p.Gly2254Arg NC_000016.10:89279781:C:T p.(Gly2254Arg) NC_000016.10:89279781:C:T p.(Gly2254Arg) NC_000016.10:89279781:C:T Identity +NM_001166160.2:c.3776G>A NP_001159632.1:p.Arg1259Gln NC_000007.14:95288581:G:A p.(Arg1259Gln) NC_000007.14:95288581:G:A p.(Arg1259Gln) NC_000007.14:95288581:G:A Identity +NM_005401.5:c.1253G>A NP_005392.2:p.Ser418Asn NC_000001.11:214384601:C:T p.(Ser418Asn) NC_000001.11:214384601:C:T p.(Ser418Asn) NC_000001.11:214384601:C:T Identity +NM_001168374.2:c.2081G>A NP_001161846.1:p.Ser694Asn NC_000006.12:24568812:C:T p.(Ser694Asn) NC_000006.12:24568812:C:T p.(Ser694Asn) NC_000006.12:24568812:C:T Identity +NM_001281987.3:c.745C>G NP_001268916.1:p.Leu249Val NC_000001.11:31814588:G:C p.(Leu249Val) NC_000001.11:31814588:G:C p.(Leu249Val) NC_000001.11:31814588:G:C Identity +NM_005245.4:c.5384G>A NP_005236.2:p.Arg1795Gln NC_000004.12:186621201:C:T p.(Arg1795Gln) NC_000004.12:186621201:C:T p.(Arg1795Gln) NC_000004.12:186621201:C:T Identity +NM_017831.4:c.493C>T NP_060301.2:p.Arg165Trp NC_000018.10:32045720:C:T p.(Arg165Trp) NC_000018.10:32045720:C:T p.(Arg165Trp) NC_000018.10:32045720:C:T Identity +NM_001100397.2:c.490T>C NP_001093867.1:p.Cys164Arg NC_000002.12:172967361:T:C p.(Cys164Arg) NC_000002.12:172967361:T:C p.(Cys164Arg) NC_000002.12:172967361:T:C Identity +NM_001282983.2:c.1357C>A NP_001269912.1:p.Pro453Thr NC_000002.12:241441501:C:A p.(Pro453Thr) NC_000002.12:241441501:C:A p.(Pro453Thr) NC_000002.12:241441501:C:A Identity +NM_001364903.1:c.558C>A NP_001351832.1:p.Phe186Leu NC_000001.11:98695627:C:A p.(Phe186Leu) NC_000001.11:98695627:C:A p.(Phe186Leu) NC_000001.11:98695627:C:A Identity +NM_007053.4:c.250G>A NP_008984.1:p.Gly84Arg NC_000001.11:145730919:G:A p.(Gly84Arg) NC_000001.11:145730919:G:A p.(Gly84Arg) NC_000001.11:145730919:G:A Identity +NM_001199687.3:c.334C>T NP_001186616.2:p.Pro112Ser NC_000023.11:66604438:G:A p.(Pro112Ser) NC_000023.11:66604438:G:A p.(Pro112Ser) NC_000023.11:66604438:G:A Identity +NM_001080495.3:c.6818C>T NP_001073964.2:p.Pro2273Leu NC_000007.14:5315999:G:A p.(Pro2273Leu) NC_000007.14:5315999:G:A p.(Pro2273Leu) NC_000007.14:5315999:G:A Identity +NM_152701.5:c.14521A>G NP_689914.3:p.Ile4841Val NC_000007.14:48587168:A:G p.(Ile4841Val) NC_000007.14:48587168:A:G p.(Ile4841Val) NC_000007.14:48587168:A:G Identity +NM_001077.4:c.1139G>A NP_001068.1:p.Gly380Asp NC_000004.12:68550850:C:T p.(Gly380Asp) NC_000004.12:68550850:C:T p.(Gly380Asp) NC_000004.12:68550850:C:T Identity +NM_005401.5:c.2002C>T NP_005392.2:p.Arg668Cys NC_000001.11:214383852:G:A p.(Arg668Cys) NC_000001.11:214383852:G:A p.(Arg668Cys) NC_000001.11:214383852:G:A Identity +NM_004514.4:c.1899G>C NP_004505.2:p.Lys633Asn NC_000017.11:82601414:G:C p.(Lys633Asn) NC_000017.11:82601414:G:C p.(Lys633Asn) NC_000017.11:82601414:G:C Identity +NM_001172567.2:c.647T>C NP_001166038.2:p.Leu216Ser NC_000003.12:38140570:T:C p.(Leu216Ser) NC_000003.12:38140570:T:C p.(Leu216Ser) NC_000003.12:38140570:T:C Identity +NM_031935.3:c.11206G>A NP_114141.2:p.Ala3736Thr NC_000001.11:186114052:G:A p.(Ala3736Thr) NC_000001.11:186114052:G:A p.(Ala3736Thr) NC_000001.11:186114052:G:A Identity +NM_173689.7:c.278G>A NP_775960.4:p.Arg93His NC_000009.12:123363047:G:A p.(Arg93His) NC_000009.12:123363047:G:A p.(Arg93His) NC_000009.12:123363047:G:A Identity +NM_003107.3:c.82C>G NP_003098.1:p.Leu28Val NC_000006.12:21594615:C:G p.(Leu28Val) NC_000006.12:21594615:C:G p.(Leu28Val) NC_000006.12:21594615:C:G Identity +NM_004327.4:c.497G>A NP_004318.3:p.Gly166Asp NC_000022.11:23181456:G:A p.(Gly166Asp) NC_000022.11:23181456:G:A p.(Gly166Asp) NC_000022.11:23181456:G:A Identity +NM_018897.3:c.8483T>C NP_061720.2:p.Met2828Thr NC_000002.12:195855922:A:G p.(Met2828Thr) NC_000002.12:195855922:A:G p.(Met2828Thr) NC_000002.12:195855922:A:G Identity +NM_001272049.2:c.1313G>A NP_001258978.1:p.Arg438Gln NC_000016.10:3664370:C:T p.(Arg438Gln) NC_000016.10:3664370:C:T p.(Arg438Gln) NC_000016.10:3664370:C:T Identity +NM_001098398.2:c.2510G>A NP_001091868.1:p.Gly837Glu NC_000001.11:160294850:C:T p.(Gly837Glu) NC_000001.11:160294850:C:T p.(Gly837Glu) NC_000001.11:160294850:C:T Identity +NM_001010888.4:c.326A>G NP_001010888.3:p.Gln109Arg NC_000023.11:65489126:A:G p.(Gln109Arg) NC_000023.11:65489126:A:G p.(Gln109Arg) NC_000023.11:65489126:A:G Identity +NM_002819.5:c.517G>A NP_002810.1:p.Ala173Thr NC_000019.10:804612:G:A p.(Ala173Thr) NC_000019.10:804612:G:A p.(Ala173Thr) NC_000019.10:804612:G:A Identity +NM_000875.5:c.3847G>A NP_000866.1:p.Glu1283Lys NC_000015.10:98957184:G:A p.(Glu1283Lys) NC_000015.10:98957184:G:A p.(Glu1283Lys) NC_000015.10:98957184:G:A Identity +NM_001365079.1:c.2707C>T NP_001352008.1:p.Arg903Cys NC_000010.11:103602153:G:A p.(Arg903Cys) NC_000010.11:103602153:G:A p.(Arg903Cys) NC_000010.11:103602153:G:A Identity +NM_014272.5:c.653G>A NP_055087.2:p.Arg218His NC_000015.10:78796755:C:T p.(Arg218His) NC_000015.10:78796755:C:T p.(Arg218His) NC_000015.10:78796755:C:T Identity +NM_004946.3:c.2939T>C NP_004937.1:p.Ile980Thr NC_000005.10:169985867:T:C p.(Ile980Thr) NC_000005.10:169985867:T:C p.(Ile980Thr) NC_000005.10:169985867:T:C Identity +NM_139057.4:c.2150C>T NP_620688.2:p.Ser717Leu NC_000015.10:100054041:G:A p.(Ser717Leu) NC_000015.10:100054041:G:A p.(Ser717Leu) NC_000015.10:100054041:G:A Identity +NM_002429.6:c.1450G>A NP_002420.1:p.Gly484Arg NC_000012.12:55837112:C:T p.(Gly484Arg) NC_000012.12:55837112:C:T p.(Gly484Arg) NC_000012.12:55837112:C:T Identity +NM_001199149.2:c.1312G>T NP_001186078.1:p.Val438Leu NC_000003.12:46445349:C:A p.(Val438Leu) NC_000003.12:46445349:C:A p.(Val438Leu) NC_000003.12:46445349:C:A Identity +NM_001078645.3:c.113A>G NP_001072113.1:p.Gln38Arg NC_000013.11:114236807:A:G p.(Gln38Arg) NC_000013.11:114236807:A:G p.(Gln38Arg) NC_000013.11:114236807:A:G Identity +NM_001142459.2:c.886C>T NP_001135931.2:p.Arg296Ter NC_000007.14:151181156:G:A p.(Arg296Ter) NC_000007.14:151181156:G:A p.(Arg296Ter) NC_000007.14:151181156:G:A Identity +NM_020822.3:c.173A>G NP_065873.2:p.Asp58Gly NC_000009.12:135714638:A:G p.(Asp58Gly) NC_000009.12:135714638:A:G p.(Asp58Gly) NC_000009.12:135714638:A:G Identity +NM_001301110.2:c.4673T>C NP_001288039.1:p.Met1558Thr NC_000015.10:84031350:T:C p.(Met1558Thr) NC_000015.10:84031350:T:C p.(Met1558Thr) NC_000015.10:84031350:T:C Identity +NM_001365819.1:c.1061C>T NP_001352748.1:p.Pro354Leu NC_000022.11:50465793:G:A p.(Pro354Leu) NC_000022.11:50465793:G:A p.(Pro354Leu) NC_000022.11:50465793:G:A Identity +NM_153676.4:c.1495G>A NP_710142.1:p.Glu499Lys NC_000011.10:17510439:C:T p.(Glu499Lys) NC_000011.10:17510439:C:T p.(Glu499Lys) NC_000011.10:17510439:C:T Identity +NM_144666.3:c.4072C>T NP_653267.2:p.Arg1358Cys NC_000011.10:6545010:C:T p.(Arg1358Cys) NC_000011.10:6545010:C:T p.(Arg1358Cys) NC_000011.10:6545010:C:T Identity +NM_001127715.4:c.3236A>T NP_001121187.1:p.Gln1079Leu NC_000006.12:147382819:A:T p.(Gln1079Leu) NC_000006.12:147382819:A:T p.(Gln1079Leu) NC_000006.12:147382819:A:T Identity +NM_000054.7:c.542G>A NP_000045.1:p.Arg181His NC_000023.11:153906047:G:A p.(Arg181His) NC_000023.11:153906047:G:A p.(Arg181His) NC_000023.11:153906047:G:A Identity +NM_030787.4:c.1561T>A NP_110414.1:p.Leu521Ile NC_000001.11:197008533:T:A p.(Leu521Ile) NC_000001.11:197008533:T:A p.(Leu521Ile) NC_000001.11:197008533:T:A Identity +NM_022802.3:c.1238A>C NP_073713.2:p.His413Pro NC_000010.11:125026521:T:G p.(His413Pro) NC_000010.11:125026521:T:G p.(His413Pro) NC_000010.11:125026521:T:G Identity +NM_001371097.1:c.1679T>C NP_001358026.1:p.Val560Ala NC_000012.12:20883598:T:C p.(Val560Ala) NC_000012.12:20883598:T:C p.(Val560Ala) NC_000012.12:20883598:T:C Identity +NM_001271440.2:c.505G>A NP_001258369.1:p.Glu169Lys NC_000021.9:44331882:C:T p.(Glu169Lys) NC_000021.9:44331882:C:T p.(Glu169Lys) NC_000021.9:44331882:C:T Identity +NM_002310.6:c.1417T>C NP_002301.1:p.Ser473Pro NC_000005.10:38503995:A:G p.(Ser473Pro) NC_000005.10:38503995:A:G p.(Ser473Pro) NC_000005.10:38503995:A:G Identity +NM_000839.5:c.1316A>G NP_000830.2:p.Asn439Ser NC_000003.12:51715088:A:G p.(Asn439Ser) NC_000003.12:51715088:A:G p.(Asn439Ser) NC_000003.12:51715088:A:G Identity +NM_015691.5:c.2057G>A NP_056506.3:p.Arg686His NC_000023.11:10122669:G:A ERR:TranscriptMismatch:expected G, found T at transcript indices 2381..2382 NC_000023.11:10122672:T:A ERR:NM_015691.5:c.2057G>A: Variant reference (G) does not agree with reference sequence (T) ERR:NM_015691.5:c.2057G>A: Variant reference (G) does not agree with reference sequence (T) Unknown +NM_000037.4:c.2830G>A NP_000028.3:p.Ala944Thr NC_000008.11:41696492:C:T p.(Ala944Thr) NC_000008.11:41696492:C:T p.(Ala944Thr) NC_000008.11:41696492:C:T Identity +NM_001306089.2:c.1808G>A NP_001293018.1:p.Arg603His NC_000018.10:76899135:G:A p.(Arg603His) NC_000018.10:76899135:G:A p.(Arg603His) NC_000018.10:76899135:G:A Identity +NM_001195733.2:c.1703C>T NP_001182662.1:p.Ala568Val NC_000019.10:3641788:G:A p.(Ala568Val) NC_000019.10:3641788:G:A p.(Ala568Val) NC_000019.10:3641788:G:A Identity +NM_000828.5:c.1772G>A NP_000819.4:p.Arg591His NC_000023.11:123417672:G:A p.(Arg591His) NC_000023.11:123417672:G:A p.(Arg591His) NC_000023.11:123417672:G:A Identity +NM_001005388.3:c.1601G>A NP_001005388.2:p.Arg534Lys NC_000001.11:204975312:G:A p.(Arg534Lys) NC_000001.11:204975312:G:A p.(Arg534Lys) NC_000001.11:204975312:G:A Identity +NM_001190799.2:c.2387C>T NP_001177728.1:p.Thr796Met NC_000004.12:127893801:C:T p.(Thr796Met) NC_000004.12:127893801:C:T p.(Thr796Met) NC_000004.12:127893801:C:T Identity +NM_001135629.3:c.1499A>G NP_001129101.1:p.Tyr500Cys NC_000002.12:48491069:A:G p.(Tyr500Cys) NC_000002.12:48491069:A:G p.(Tyr500Cys) NC_000002.12:48491069:A:G Identity +NM_005559.4:c.8903C>T NP_005550.2:p.Thr2968Ile NC_000018.10:6943343:G:A p.(Thr2968Ile) NC_000018.10:6943343:G:A p.(Thr2968Ile) NC_000018.10:6943343:G:A Identity +NM_001142800.2:c.5629C>T NP_001136272.1:p.Arg1877Trp NC_000006.12:64590237:G:A p.(Arg1877Trp) NC_000006.12:64590237:G:A p.(Arg1877Trp) NC_000006.12:64590237:G:A Identity +NM_152468.5:c.917_918delinsTT NP_689681.2:p.Asn306Ile NC_000017.11:78134493:AC:TT p.(Asn306Ile) NC_000017.11:78134493:AC:TT p.(Asn306Ile) NC_000017.11:78134493:AC:TT Identity +NM_001256071.3:c.14677G>C NP_001243000.2:p.Glu4893Gln NC_000017.11:80386386:G:C p.(Glu4893Gln) NC_000017.11:80386386:G:C p.(Glu4893Gln) NC_000017.11:80386386:G:C Identity +NM_001195573.1:c.5453A>G NP_001182502.1:p.Glu1818Gly NC_000014.9:95090650:T:C p.(Glu1818Gly) NC_000014.9:95090650:T:C p.(Glu1818Gly) NC_000014.9:95090650:T:C Identity +NM_000490.5:c.319G>A NP_000481.2:p.Asp107Asn NC_000020.11:3082979:C:T p.(Asp107Asn) NC_000020.11:3082979:C:T p.(Asp107Asn) NC_000020.11:3082979:C:T Identity +NM_001314052.2:c.122A>G NP_001300981.1:p.Asn41Ser NC_000009.12:107488933:T:C p.(Asn41Ser) NC_000009.12:107488933:T:C p.(Asn41Ser) NC_000009.12:107488933:T:C Identity +NM_001112808.3:c.2213C>T NP_001106279.3:p.Thr738Met NC_000001.11:74439520:C:T p.(Thr738Met) NC_000001.11:74439520:C:T p.(Thr738Met) NC_000001.11:74439520:C:T Identity +NM_001202.6:c.502G>C NP_001193.2:p.Gly168Arg NC_000014.9:53950756:C:G p.(Gly168Arg) NC_000014.9:53950756:C:G p.(Gly168Arg) NC_000014.9:53950756:C:G Identity +NM_001099922.3:c.1183A>C NP_001093392.1:p.Asn395His NC_000023.11:111718206:A:C p.(Asn395His) NC_000023.11:111718206:A:C p.(Asn395His) NC_000023.11:111718206:A:C Identity +NM_001142685.2:c.4438G>A NP_001136157.1:p.Asp1480Asn NC_000011.10:128970732:C:T p.(Asp1480Asn) NC_000011.10:128970732:C:T p.(Asp1480Asn) NC_000011.10:128970732:C:T Identity +NM_000665.5:c.266G>A NP_000656.1:p.Gly89Glu NC_000007.14:100893966:C:T p.(Gly89Glu) NC_000007.14:100893966:C:T p.(Gly89Glu) NC_000007.14:100893966:C:T Identity +NM_015425.6:c.1097C>T NP_056240.2:p.Ser366Phe NC_000002.12:86078273:G:A p.(Ser366Phe) NC_000002.12:86078273:G:A p.(Ser366Phe) NC_000002.12:86078273:G:A Identity +NM_001323407.2:c.202C>T NP_001310336.1:p.Arg68Trp NC_000020.11:1135220:C:T p.(Arg68Trp) NC_000020.11:1135220:C:T p.(Arg68Trp) NC_000020.11:1135220:C:T Identity +NM_000934.4:c.412G>A NP_000925.2:p.Ala138Thr NC_000017.11:1747062:G:A p.(Ala138Thr) NC_000017.11:1747062:G:A p.(Ala138Thr) NC_000017.11:1747062:G:A Identity +NM_001130955.2:c.3302C>T NP_001124427.2:p.Pro1101Leu NC_000019.10:7470239:C:T p.(Pro1101Leu) NC_000019.10:7470239:C:T p.(Pro1101Leu) NC_000019.10:7470239:C:T Identity +NM_001291824.2:c.466C>T NP_001278753.1:p.Arg156Trp NC_000022.11:39968047:C:T p.(Arg156Trp) NC_000022.11:39968047:C:T p.(Arg156Trp) NC_000022.11:39968047:C:T Identity +NM_001330552.2:c.3311G>A NP_001317481.1:p.Arg1104His NC_000016.10:57046613:G:A p.(Arg1104His) NC_000016.10:57046613:G:A p.(Arg1104His) NC_000016.10:57046613:G:A Identity +NM_001346445.2:c.5699G>C NP_001333374.1:p.Cys1900Ser NC_000011.10:62528717:C:G p.(Cys1900Ser) NC_000011.10:62528717:C:G p.(Cys1900Ser) NC_000011.10:62528717:C:G Identity +NM_001346445.2:c.5333C>T NP_001333374.1:p.Ala1778Val NC_000011.10:62529083:G:A p.(Ala1778Val) NC_000011.10:62529083:G:A p.(Ala1778Val) NC_000011.10:62529083:G:A Identity +NM_001289135.3:c.3208G>C NP_001276064.1:p.Asp1070His NC_000004.12:20595733:G:C p.(Asp1070His) NC_000004.12:20595733:G:C p.(Asp1070His) NC_000004.12:20595733:G:C Identity +NM_005775.5:c.812T>C NP_005766.3:p.Ile271Thr NC_000008.11:22564516:T:C p.(Ile271Thr) NC_000008.11:22564516:T:C p.(Ile271Thr) NC_000008.11:22564516:T:C Identity +NM_001032394.3:c.1267G>A NP_001027566.2:p.Val423Ile NC_000006.12:142392989:G:A p.(Val423Ile) NC_000006.12:142392989:G:A p.(Val423Ile) NC_000006.12:142392989:G:A Identity +NM_007118.4:c.7442A>T NP_009049.2:p.Lys2481Met NC_000005.10:14488069:A:T p.(Lys2481Met) NC_000005.10:14488069:A:T p.(Lys2481Met) NC_000005.10:14488069:A:T Identity +NM_000428.3:c.208A>G NP_000419.1:p.Ser70Gly NC_000014.9:74611736:T:C p.(Ser70Gly) NC_000014.9:74611736:T:C p.(Ser70Gly) NC_000014.9:74611736:T:C Identity +NM_000336.3:c.1190G>T NP_000327.2:p.Arg397Leu NC_000016.10:23375774:G:T p.(Arg397Leu) NC_000016.10:23375774:G:T p.(Arg397Leu) NC_000016.10:23375774:G:T Identity +NM_178857.6:c.389G>A NP_849188.4:p.Arg130Gln NC_000008.11:10622812:C:T p.(Arg130Gln) NC_000008.11:10622812:C:T p.(Arg130Gln) NC_000008.11:10622812:C:T Identity +NM_001190807.3:c.25G>T NP_001177736.1:p.Val9Leu NC_000018.10:74291850:C:A p.(Val9Leu) NC_000018.10:74291850:C:A p.(Val9Leu) NC_000018.10:74291850:C:A Identity +NM_001350001.2:c.3424G>A NP_001336930.1:p.Asp1142Asn NC_000010.11:30026309:C:T p.(Asp1142Asn) NC_000010.11:30026309:C:T p.(Asp1142Asn) NC_000010.11:30026309:C:T Identity +NM_001204813.2:c.76G>T NP_001191742.1:p.Ala26Ser NC_000006.12:85450214:G:T p.(Ala26Ser) NC_000006.12:85450214:G:T p.(Ala26Ser) NC_000006.12:85450214:G:T Identity +NM_001145795.2:c.269C>A NP_001139267.1:p.Pro90His NC_000016.10:28866362:C:A p.(Pro90His) NC_000016.10:28866362:C:A p.(Pro90His) NC_000016.10:28866362:C:A Identity +NM_001330417.2:c.2539A>T NP_001317346.2:p.Ile847Leu NC_000017.11:61874955:T:A p.(Ile847Leu) NC_000017.11:61874955:T:A p.(Ile847Leu) NC_000017.11:61874955:T:A Identity +NM_001198810.2:c.1014G>C NP_001185739.1:p.Glu338Asp NC_000011.10:57491719:C:G p.(Glu338Asp) NC_000011.10:57491719:C:G p.(Glu338Asp) NC_000011.10:57491719:C:G Identity +NM_000382.3:c.119A>G NP_000373.1:p.Asp40Gly NC_000017.11:19649089:A:G p.(Asp40Gly) NC_000017.11:19649089:A:G p.(Asp40Gly) NC_000017.11:19649089:A:G Identity +NM_001286577.2:c.131C>A NP_001273506.1:p.Thr44Asn NC_000011.10:74168537:G:T p.(Thr44Asn) NC_000011.10:74168537:G:T p.(Thr44Asn) NC_000011.10:74168537:G:T Identity +NM_000182.5:c.1947T>A NP_000173.2:p.Asn649Lys NC_000002.12:26192362:A:T p.(Asn649Lys) NC_000002.12:26192362:A:T p.(Asn649Lys) NC_000002.12:26192362:A:T Identity +NM_002250.3:c.447A>C NP_002241.1:p.Glu149Asp NC_000019.10:43774427:T:G p.(Glu149Asp) NC_000019.10:43774427:T:G p.(Glu149Asp) NC_000019.10:43774427:T:G Identity +NM_001394962.1:c.2894G>A NP_001381891.1:p.Arg965Gln NC_000023.11:119087807:C:T p.(Arg965Gln) NC_000023.11:119087807:C:T p.(Arg965Gln) NC_000023.11:119087807:C:T Identity +NM_001308267.2:c.991G>A NP_001295196.1:p.Ala331Thr NC_000007.14:158138320:C:T p.(Ala331Thr) NC_000007.14:158138320:C:T p.(Ala331Thr) NC_000007.14:158138320:C:T Identity +NM_000319.5:c.658C>T NP_000310.2:p.Arg220Trp NC_000012.12:7202255:C:T p.(Arg220Trp) NC_000012.12:7202255:C:T p.(Arg220Trp) NC_000012.12:7202255:C:T Identity +NM_000084.5:c.1970C>G NP_000075.1:p.Thr657Ser NC_000023.11:50090705:C:G p.(Thr657Ser) NC_000023.11:50090705:C:G p.(Thr657Ser) NC_000023.11:50090705:C:G Identity +NM_014503.3:c.6517A>G NP_055318.2:p.Arg2173Gly NC_000012.12:101369852:A:G p.(Arg2173Gly) NC_000012.12:101369852:A:G p.(Arg2173Gly) NC_000012.12:101369852:A:G Identity +NM_001286734.2:c.4363A>G NP_001273663.1:p.Lys1455Glu NC_000004.12:103145656:T:C p.(Lys1455Glu) NC_000004.12:103145656:T:C p.(Lys1455Glu) NC_000004.12:103145656:T:C Identity +NM_001251882.2:c.254A>G NP_001238811.1:p.Asp85Gly NC_000003.12:42525970:A:G p.(Asp85Gly) NC_000003.12:42525970:A:G p.(Asp85Gly) NC_000003.12:42525970:A:G Identity +NM_015559.3:c.927C>A NP_056374.2:p.Asn309Lys NC_000018.10:44950266:C:A p.(Asn309Lys) NC_000018.10:44950266:C:A p.(Asn309Lys) NC_000018.10:44950266:C:A Identity +NM_007209.4:c.301A>C NP_009140.1:p.Asn101His NC_000009.12:124857988:T:G p.(Asn101His) NC_000009.12:124857988:T:G p.(Asn101His) NC_000009.12:124857988:T:G Identity +NM_002472.3:c.4235C>T NP_002463.2:p.Ala1412Val NC_000017.11:10396929:G:A p.(Ala1412Val) NC_000017.11:10396929:G:A p.(Ala1412Val) NC_000017.11:10396929:G:A Identity +NM_001288607.2:c.622G>A NP_001275536.1:p.Gly208Ser NC_000001.11:150553612:G:A p.(Gly208Ser) NC_000001.11:150553612:G:A p.(Gly208Ser) NC_000001.11:150553612:G:A Identity +NM_001083.4:c.1922T>C NP_001074.2:p.Leu641Pro NC_000004.12:119519122:A:G p.(Leu641Pro) NC_000004.12:119519122:A:G p.(Leu641Pro) NC_000004.12:119519122:A:G Identity +NM_001286431.2:c.4043A>G NP_001273360.1:p.Gln1348Arg NC_000006.12:111374077:T:C p.(Gln1348Arg) NC_000006.12:111374077:T:C p.(Gln1348Arg) NC_000006.12:111374077:T:C Identity +NM_001114974.2:c.525C>A NP_001108446.1:p.Phe175Leu NC_000017.11:4592965:C:A p.(Phe175Leu) NC_000017.11:4592965:C:A p.(Phe175Leu) NC_000017.11:4592965:C:A Identity +NM_001258012.4:c.1001C>T NP_001244941.2:p.Ala334Val NC_000017.11:74864277:G:A p.(Ala334Val) NC_000017.11:74864277:G:A p.(Ala334Val) NC_000017.11:74864277:G:A Identity +NM_001349370.3:c.3294A>C NP_001336299.1:p.Glu1098Asp NC_000003.12:47121209:T:G p.(Glu1098Asp) NC_000003.12:47121209:T:G p.(Glu1098Asp) NC_000003.12:47121209:T:G Identity +NM_001256876.3:c.1988T>C NP_001243805.1:p.Met663Thr NC_000009.12:712753:T:C p.(Met663Thr) NC_000009.12:712753:T:C p.(Met663Thr) NC_000009.12:712753:T:C Identity +NM_001145845.2:c.2657G>A NP_001139317.1:p.Arg886His NC_000003.12:78651778:C:T p.(Arg886His) NC_000003.12:78651778:C:T p.(Arg886His) NC_000003.12:78651778:C:T Identity +NM_001164665.2:c.2710G>A NP_001158137.1:p.Ala904Thr NC_000007.14:138916915:C:T p.(Ala904Thr) NC_000007.14:138916915:C:T p.(Ala904Thr) NC_000007.14:138916915:C:T Identity +NM_006269.2:c.6167G>A NP_006260.1:p.Gly2056Asp NC_000008.11:54630048:G:A p.(Gly2056Asp) NC_000008.11:54630048:G:A p.(Gly2056Asp) NC_000008.11:54630048:G:A Identity +NM_001184808.2:c.304G>A NP_001171737.1:p.Asp102Asn NC_000023.11:150777455:C:T p.(Asp102Asn) NC_000023.11:150777455:C:T p.(Asp102Asn) NC_000023.11:150777455:C:T Identity +NM_001127396.3:c.944C>T NP_001120868.1:p.Thr315Met NC_000019.10:7642815:C:T p.(Thr315Met) NC_000019.10:7642815:C:T p.(Thr315Met) NC_000019.10:7642815:C:T Identity +NM_001937.5:c.248G>T NP_001928.2:p.Ser83Ile NC_000001.11:168728926:C:A p.(Ser83Ile) NC_000001.11:168728926:C:A p.(Ser83Ile) NC_000001.11:168728926:C:A Identity +NM_001318.4:c.103A>G NP_001309.3:p.Thr35Ala NC_000017.11:63910247:T:C p.(Thr35Ala) NC_000017.11:63910247:T:C p.(Thr35Ala) NC_000017.11:63910247:T:C Identity +NM_002062.5:c.131G>A NP_002053.3:p.Arg44His NC_000006.12:39056448:G:A p.(Arg44His) NC_000006.12:39056448:G:A p.(Arg44His) NC_000006.12:39056448:G:A Identity +NM_000495.5:c.4994C>T NP_000486.1:p.Thr1665Met NC_000023.11:108696313:C:T p.(Thr1665Met) NC_000023.11:108696313:C:T p.(Thr1665Met) NC_000023.11:108696313:C:T Identity +NM_001372.4:c.8467C>A NP_001363.2:p.Leu2823Met NC_000017.11:11807777:C:A p.(Leu2823Met) NC_000017.11:11807777:C:A p.(Leu2823Met) NC_000017.11:11807777:C:A Identity +NM_001256560.2:c.692A>G NP_001243489.1:p.Tyr231Cys NC_000003.12:58193361:T:C p.(Tyr231Cys) NC_000003.12:58193361:T:C p.(Tyr231Cys) NC_000003.12:58193361:T:C Identity +NM_001206955.2:c.556A>C NP_001193884.1:p.Lys186Gln NC_000003.12:2866852:A:C p.(Lys186Gln) NC_000003.12:2866852:A:C p.(Lys186Gln) NC_000003.12:2866852:A:C Identity +NM_032279.4:c.1745G>C NP_115655.2:p.Cys582Ser NC_000003.12:193457394:C:G p.(Cys582Ser) NC_000003.12:193457394:C:G p.(Cys582Ser) NC_000003.12:193457394:C:G Identity +NM_002852.4:c.1079G>A NP_002843.2:p.Arg360Gln NC_000003.12:157442911:G:A p.(Arg360Gln) NC_000003.12:157442911:G:A p.(Arg360Gln) NC_000003.12:157442911:G:A Identity +NM_005247.4:c.629G>A NP_005238.1:p.Arg210Gln NC_000011.10:69810395:C:T p.(Arg210Gln) NC_000011.10:69810395:C:T p.(Arg210Gln) NC_000011.10:69810395:C:T Identity +NM_001304763.2:c.1969C>T NP_001291692.1:p.Leu657Phe NC_000001.11:151288259:C:T p.(Leu657Phe) NC_000001.11:151288259:C:T p.(Leu657Phe) NC_000001.11:151288259:C:T Identity +NM_024312.5:c.1750C>A NP_077288.2:p.Pro584Thr NC_000012.12:101765166:G:T p.(Pro584Thr) NC_000012.12:101765166:G:T p.(Pro584Thr) NC_000012.12:101765166:G:T Identity +NM_001032394.3:c.85A>G NP_001027566.2:p.Met29Val NC_000006.12:142309625:A:G p.(Met29Val) NC_000006.12:142309625:A:G p.(Met29Val) NC_000006.12:142309625:A:G Identity +NM_001286431.2:c.4054G>A NP_001273360.1:p.Val1352Met NC_000006.12:111374066:C:T p.(Val1352Met) NC_000006.12:111374066:C:T p.(Val1352Met) NC_000006.12:111374066:C:T Identity +NM_001287491.2:c.2135G>A NP_001274420.1:p.Arg712Gln NC_000002.12:74048051:G:A p.(Arg712Gln) NC_000002.12:74048051:G:A p.(Arg712Gln) NC_000002.12:74048051:G:A Identity +NM_001039112.2:c.2414C>T NP_001034201.2:p.Ser805Phe NC_000008.11:124035403:C:T p.(Ser805Phe) NC_000008.11:124035403:C:T p.(Ser805Phe) NC_000008.11:124035403:C:T Identity +NM_001164749.2:c.2117G>A NP_001158221.1:p.Gly706Glu NC_000014.9:33800423:G:A p.(Gly706Glu) NC_000014.9:33800423:G:A p.(Gly706Glu) NC_000014.9:33800423:G:A Identity +NM_001199.4:c.2141G>A NP_001190.1:p.Arg714His NC_000008.11:22201150:G:A p.(Arg714His) NC_000008.11:22201150:G:A p.(Arg714His) NC_000008.11:22201150:G:A Identity +NM_001289000.2:c.844G>A NP_001275929.1:p.Gly282Ser NC_000022.11:37086411:C:T p.(Gly282Ser) NC_000022.11:37086411:C:T p.(Gly282Ser) NC_000022.11:37086411:C:T Identity +NM_001190458.2:c.893C>T NP_001177387.1:p.Thr298Met NC_000009.12:332449:C:T p.(Thr298Met) NC_000009.12:332449:C:T p.(Thr298Met) NC_000009.12:332449:C:T Identity +NM_001288951.2:c.2516C>T NP_001275880.1:p.Ala839Val NC_000002.12:47073789:C:T p.(Ala839Val) NC_000002.12:47073789:C:T p.(Ala839Val) NC_000002.12:47073789:C:T Identity +NM_001394547.1:c.3428C>T NP_001381476.1:p.Ser1143Leu NC_000015.10:62736946:C:T p.(Ser1143Leu) NC_000015.10:62736946:C:T p.(Ser1143Leu) NC_000015.10:62736946:C:T Identity +NM_001080479.3:c.1952A>G NP_001073948.2:p.Asn651Ser NC_000005.10:73858123:A:G p.(Asn651Ser) NC_000005.10:73858123:A:G p.(Asn651Ser) NC_000005.10:73858123:A:G Identity +NM_001363734.1:c.4060C>G NP_001350663.1:p.Arg1354Gly NC_000020.11:32436954:C:G p.(Arg1354Gly) NC_000020.11:32436954:C:G p.(Arg1354Gly) NC_000020.11:32436954:C:G Identity +NM_001289135.3:c.4255C>A NP_001276064.1:p.His1419Asn NC_000004.12:20617568:C:A p.(His1419Asn) NC_000004.12:20617568:C:A p.(His1419Asn) NC_000004.12:20617568:C:A Identity +NM_173354.5:c.2227G>A NP_775490.2:p.Ala743Thr NC_000021.9:43416866:C:T p.(Ala743Thr) NC_000021.9:43416866:C:T p.(Ala743Thr) NC_000021.9:43416866:C:T Identity +NM_175882.3:c.263C>T NP_787078.2:p.Pro88Leu NC_000017.11:45845168:C:T p.(Pro88Leu) NC_000017.11:45845168:C:T p.(Pro88Leu) NC_000017.11:45845168:C:T Identity +NM_001010923.3:c.1751C>T NP_001010923.1:p.Ser584Phe NC_000006.12:127812889:G:A p.(Ser584Phe) NC_000006.12:127812889:G:A p.(Ser584Phe) NC_000006.12:127812889:G:A Identity +NM_001032280.3:c.463C>G NP_001027451.1:p.His155Asp NC_000006.12:10406843:G:C p.(His155Asp) NC_000006.12:10406843:G:C p.(His155Asp) NC_000006.12:10406843:G:C Identity +NM_019066.5:c.3721G>A NP_061939.3:p.Gly1241Ser NC_000015.10:23644021:C:T p.(Gly1241Ser) NC_000015.10:23644021:C:T p.(Gly1241Ser) NC_000015.10:23644021:C:T Identity +NM_001007022.4:c.882A>T NP_001007023.2:p.Glu294Asp NC_000001.11:86372468:T:A p.(Glu294Asp) NC_000001.11:86372468:T:A p.(Glu294Asp) NC_000001.11:86372468:T:A Identity +NM_012114.3:c.536G>A NP_036246.1:p.Arg179Gln NC_000019.10:15055444:G:A p.(Arg179Gln) NC_000019.10:15055444:G:A p.(Arg179Gln) NC_000019.10:15055444:G:A Identity +NM_001303419.1:c.1015A>G NP_001290348.1:p.Thr339Ala NC_000004.12:188091746:T:C p.(Thr339Ala) NC_000004.12:188091746:T:C p.(Thr339Ala) NC_000004.12:188091746:T:C Identity +NM_000930.5:c.614C>A NP_000921.1:p.Thr205Asn NC_000008.11:42185097:G:T p.(Thr205Asn) NC_000008.11:42185097:G:T p.(Thr205Asn) NC_000008.11:42185097:G:T Identity +NM_001351377.2:c.551T>C NP_001338306.1:p.Val184Ala NC_000003.12:39184943:A:G p.(Val184Ala) NC_000003.12:39184943:A:G p.(Val184Ala) NC_000003.12:39184943:A:G Identity +NM_001253387.2:c.1658G>A NP_001240316.1:p.Ser553Asn NC_000003.12:366069:G:A p.(Ser553Asn) NC_000003.12:366069:G:A p.(Ser553Asn) NC_000003.12:366069:G:A Identity +NM_001005752.2:c.187G>A NP_001005752.1:p.Val63Ile NC_000001.11:34784948:G:A p.(Val63Ile) NC_000001.11:34784948:G:A p.(Val63Ile) NC_000001.11:34784948:G:A Identity +NM_000561.4:c.475C>G NP_000552.2:p.Leu159Val NC_000001.11:109690471:C:G p.(Leu159Val) NC_000001.11:109690471:C:G p.(Leu159Val) NC_000001.11:109690471:C:G Identity +NM_017613.4:c.1466A>G NP_060083.1:p.Lys489Arg NC_000021.9:33579446:T:C p.(Lys489Arg) NC_000021.9:33579446:T:C p.(Lys489Arg) NC_000021.9:33579446:T:C Identity +NM_001163435.3:c.1467G>C NP_001156907.2:p.Lys489Asn NC_000004.12:106233632:C:G p.(Lys489Asn) NC_000004.12:106233632:C:G p.(Lys489Asn) NC_000004.12:106233632:C:G Identity +NM_004525.3:c.1502G>A NP_004516.2:p.Arg501Gln NC_000002.12:169279434:C:T p.(Arg501Gln) NC_000002.12:169279434:C:T p.(Arg501Gln) NC_000002.12:169279434:C:T Identity +NM_003578.4:c.1250G>A NP_003569.1:p.Arg417Gln NC_000012.12:53123093:G:A p.(Arg417Gln) NC_000012.12:53123093:G:A p.(Arg417Gln) NC_000012.12:53123093:G:A Identity +NM_001008221.1:c.920C>T NP_001008222.1:p.Ala307Val NC_000001.11:103660400:C:T p.(Ala307Val) NC_000001.11:103660400:C:T p.(Ala307Val) NC_000001.11:103660400:C:T Identity +NM_004334.3:c.370C>T NP_004325.2:p.Arg124Cys NC_000004.12:15707564:C:T p.(Arg124Cys) NC_000004.12:15707564:C:T p.(Arg124Cys) NC_000004.12:15707564:C:T Identity +NM_015057.5:c.2055G>C NP_055872.4:p.Gln685His NC_000013.11:77257791:C:G p.(Gln685His) NC_000013.11:77257791:C:G p.(Gln685His) NC_000013.11:77257791:C:G Identity +NM_001171930.2:c.3352G>A NP_001165401.1:p.Gly1118Ser NC_000010.11:71712795:G:A p.(Gly1118Ser) NC_000010.11:71712795:G:A p.(Gly1118Ser) NC_000010.11:71712795:G:A Identity +NM_001291411.2:c.539A>G NP_001278340.2:p.Asn180Ser NC_000021.9:33549769:A:G p.(Asn180Ser) NC_000021.9:33549769:A:G p.(Asn180Ser) NC_000021.9:33549769:A:G Identity +NM_052843.4:c.19703C>T NP_443075.3:p.Thr6568Met NC_000001.11:228360594:C:T p.(Thr6568Met) NC_000001.11:228360594:C:T p.(Thr6568Met) NC_000001.11:228360594:C:T Identity +NM_001256196.2:c.1743G>C NP_001243125.1:p.Glu581Asp NC_000023.11:47571369:G:C p.(Glu581Asp) NC_000023.11:47571369:G:C p.(Glu581Asp) NC_000023.11:47571369:G:C Identity +NM_001145845.2:c.3352G>A NP_001139317.1:p.Val1118Met NC_000003.12:78627543:C:T p.(Val1118Met) NC_000003.12:78627543:C:T p.(Val1118Met) NC_000003.12:78627543:C:T Identity +NM_001304840.3:c.908G>A NP_001291769.1:p.Arg303Gln NC_000002.12:196318913:C:T p.(Arg303Gln) NC_000002.12:196318913:C:T p.(Arg303Gln) NC_000002.12:196318913:C:T Identity +NM_001282541.2:c.536C>T NP_001269470.1:p.Thr179Ile NC_000001.11:114860746:C:T p.(Thr179Ile) NC_000001.11:114860746:C:T p.(Thr179Ile) NC_000001.11:114860746:C:T Identity +NM_001102401.4:c.310G>A NP_001095871.1:p.Asp104Asn NC_000008.11:33512303:C:T p.(Asp104Asn) NC_000008.11:33512303:C:T p.(Asp104Asn) NC_000008.11:33512303:C:T Identity +NM_001350162.2:c.9474G>A NP_001337091.1:p.Trp3158Ter NC_000008.11:30836809:C:T p.(Trp3158Ter) NC_000008.11:30836809:C:T p.(Trp3158Ter) NC_000008.11:30836809:C:T Identity +NM_000059.4:c.10146del NP_000050.3:p.Lys3383fs NC_000013.11:32398658:G: p.(Lys3383AsnfsTer8) NC_000013.11:32398658:G: p.(Lys3383AsnfsTer8) NC_000013.11:32398658:G: Analogous +NM_001142605.2:c.2450G>A NP_001136077.1:p.Arg817Lys NC_000017.11:44853301:C:T p.(Arg817Lys) NC_000017.11:44853301:C:T p.(Arg817Lys) NC_000017.11:44853301:C:T Identity +NM_001003698.4:c.1375A>G NP_001003698.1:p.Ile459Val NC_000006.12:7229473:A:G p.(Ile459Val) NC_000006.12:7229473:A:G p.(Ile459Val) NC_000006.12:7229473:A:G Identity +NM_001136139.4:c.898A>G NP_001129611.1:p.Thr300Ala NC_000019.10:1621894:T:C p.(Thr300Ala) NC_000019.10:1621894:T:C p.(Thr300Ala) NC_000019.10:1621894:T:C Identity +NM_001039570.3:c.988G>A NP_001034659.2:p.Glu330Lys NC_000022.11:29138646:G:A p.(Glu330Lys) NC_000022.11:29138646:G:A p.(Glu330Lys) NC_000022.11:29138646:G:A Identity +NM_001374299.1:c.3638C>T NP_001361228.1:p.Thr1213Ile NC_000009.12:92210882:G:A p.(Thr1213Ile) NC_000009.12:92210882:G:A p.(Thr1213Ile) NC_000009.12:92210882:G:A Identity +NM_001293306.2:c.5786A>T NP_001280235.2:p.Asp1929Val NC_000003.12:38697430:T:A p.(Asp1929Val) NC_000003.12:38697430:T:A p.(Asp1929Val) NC_000003.12:38697430:T:A Identity +NM_001033117.3:c.2471G>A NP_001028289.1:p.Gly824Glu NC_000003.12:8992920:C:T p.(Gly824Glu) NC_000003.12:8992920:C:T p.(Gly824Glu) NC_000003.12:8992920:C:T Identity +NM_001330069.2:c.316C>T NP_001316998.1:p.His106Tyr NC_000014.9:29725622:G:A p.(His106Tyr) NC_000014.9:29725622:G:A p.(His106Tyr) NC_000014.9:29725622:G:A Identity +NM_032790.4:c.124G>A NP_116179.2:p.Ala42Thr NC_000012.12:121626870:G:A p.(Ala42Thr) NW_018654719.1:32641:G:A p.(Ala42Thr) NC_000012.12:32641:T:A Identity +NM_000206.3:c.86C>T NP_000197.1:p.Thr29Met NC_000023.11:71111453:G:A p.(Thr29Met) NC_000023.11:71111453:G:A p.(Thr29Met) NC_000023.11:71111453:G:A Identity +NM_018727.5:c.863T>G NP_061197.4:p.Val288Gly NC_000017.11:3589987:A:C p.(Val288Gly) NC_000017.11:3589987:A:C p.(Val288Gly) NC_000017.11:3589987:A:C Identity +NM_000548.5:c.1931G>A NP_000539.2:p.Cys644Tyr NC_000016.10:2071600:G:A p.(Cys644Tyr) NC_000016.10:2071600:G:A p.(Cys644Tyr) NC_000016.10:2071600:G:A Identity +NM_002296.4:c.271C>T NP_002287.2:p.Pro91Ser NC_000001.11:225422171:G:A p.(Pro91Ser) NC_000001.11:225422171:G:A p.(Pro91Ser) NC_000001.11:225422171:G:A Identity +NM_001273.5:c.414G>T NP_001264.2:p.Glu138Asp NC_000012.12:6601983:C:A p.(Glu138Asp) NC_000012.12:6601983:C:A p.(Glu138Asp) NC_000012.12:6601983:C:A Identity +NM_001193431.3:c.1514C>G NP_001180360.2:p.Ser505Cys NC_000001.11:113837885:G:C p.(Ser505Cys) NC_000001.11:113837885:G:C p.(Ser505Cys) NC_000001.11:113837885:G:C Identity +NM_003334.4:c.2368T>C NP_003325.2:p.Phe790Leu NC_000023.11:47211128:T:C p.(Phe790Leu) NC_000023.11:47211128:T:C p.(Phe790Leu) NC_000023.11:47211128:T:C Identity +NM_001311193.2:c.490G>A NP_001298122.2:p.Val164Ile NC_000001.11:186932873:G:A p.(Val164Ile) NC_000001.11:186932873:G:A p.(Val164Ile) NC_000001.11:186932873:G:A Identity +NM_001270476.2:c.1105C>T NP_001257405.1:p.Pro369Ser NC_000006.12:43010883:C:T p.(Pro369Ser) NC_000006.12:43010883:C:T p.(Pro369Ser) NC_000006.12:43010883:C:T Identity +NM_000460.4:c.516C>T NP_000451.1:p.Cys172= NC_000003.12:184373058:G:A p.(Cys172=) NC_000003.12:184373058:G:A p.(Cys172=) NC_000003.12:184373058:G:A Identity +NM_001195283.2:c.55C>G NP_001182212.1:p.Leu19Val NC_000014.9:75622078:C:G p.(Leu19Val) NC_000014.9:75622078:C:G p.(Leu19Val) NC_000014.9:75622078:C:G Identity +NM_002661.5:c.2032G>A NP_002652.2:p.Asp678Asn NC_000016.10:81912693:G:A p.(Asp678Asn) NC_000016.10:81912693:G:A p.(Asp678Asn) NC_000016.10:81912693:G:A Identity +NM_001040113.2:c.4550A>G NP_001035202.1:p.Lys1517Arg NC_000016.10:15721470:T:C p.(Lys1517Arg) NC_000016.10:15721470:T:C p.(Lys1517Arg) NC_000016.10:15721470:T:C Identity +NM_001080421.3:c.452T>C NP_001073890.2:p.Met151Thr NC_000019.10:17668132:A:G p.(Met151Thr) NC_000019.10:17668132:A:G p.(Met151Thr) NC_000019.10:17668132:A:G Identity +NM_000475.5:c.600C>G NP_000466.2:p.Cys200Trp NC_000023.11:30308763:G:C p.(Cys200Trp) NC_000023.11:30308763:G:C p.(Cys200Trp) NC_000023.11:30308763:G:C Identity +NM_006939.4:c.599A>G NP_008870.2:p.Tyr200Cys NC_000014.9:50188611:T:C p.(Tyr200Cys) NC_000014.9:50188611:T:C p.(Tyr200Cys) NC_000014.9:50188611:T:C Identity +NM_001206955.2:c.1701A>C NP_001193884.1:p.Gln567His NC_000003.12:3030892:A:C p.(Gln567His) NC_000003.12:3030892:A:C p.(Gln567His) NC_000003.12:3030892:A:C Identity +NM_002238.4:c.2195G>A NP_002229.1:p.Arg732Gln NC_000001.11:210683974:C:T p.(Arg732Gln) NC_000001.11:210683974:C:T p.(Arg732Gln) NC_000001.11:210683974:C:T Identity +NM_001171653.2:c.1168C>A NP_001165124.1:p.Pro390Thr NC_000002.12:144399946:G:T p.(Pro390Thr) NC_000002.12:144399946:G:T p.(Pro390Thr) NC_000002.12:144399946:G:T Identity +NM_001145412.3:c.608A>G NP_001138884.1:p.Lys203Arg NC_000002.12:177231946:T:C p.(Lys203Arg) NC_000002.12:177231946:T:C p.(Lys203Arg) NC_000002.12:177231946:T:C Identity +NM_145243.5:c.205C>T NP_660286.1:p.His69Tyr NC_000001.11:58539089:G:A p.(His69Tyr) NC_000001.11:58539089:G:A p.(His69Tyr) NC_000001.11:58539089:G:A Identity +NM_001123066.4:c.1102G>A NP_001116538.2:p.Val368Ile NC_000017.11:45983905:G:A p.(Val368Ile) NC_000017.11:45983905:G:A p.(Val368Ile) NC_000017.11:45983905:G:A Identity +NM_005140.3:c.635G>A NP_005131.1:p.Arg212Gln NC_000023.11:151743137:G:A p.(Arg212Gln) NC_000023.11:151743137:G:A p.(Arg212Gln) NC_000023.11:151743137:G:A Identity +NM_001293640.2:c.49G>A NP_001280569.1:p.Asp17Asn NC_000012.12:105107848:G:A p.(Asp17Asn) NC_000012.12:105107848:G:A p.(Asp17Asn) NC_000012.12:105107848:G:A Identity +NM_000227.6:c.76C>A NP_000218.3:p.Leu26Met NC_000018.10:23873119:C:A p.(Leu26Met) NC_000018.10:23873119:C:A p.(Leu26Met) NC_000018.10:23873119:C:A Identity +NM_001173482.1:c.27C>G NP_001166953.1:p.Asp9Glu NC_000003.12:3179660:G:C p.(Asp9Glu) NC_000003.12:3179660:G:C p.(Asp9Glu) NC_000003.12:3179660:G:C Identity +NM_001283009.2:c.3038C>T NP_001269938.1:p.Ala1013Val NC_000020.11:63694416:C:T p.(Ala1013Val) NC_000020.11:63694416:C:T p.(Ala1013Val) NC_000020.11:63694416:C:T Identity +NM_001173514.2:c.176G>A NP_001166985.1:p.Arg59Gln NC_000019.10:35907465:C:T p.(Arg59Gln) NC_000019.10:35907465:C:T p.(Arg59Gln) NC_000019.10:35907465:C:T Identity +NM_001142800.2:c.5233G>A NP_001136272.1:p.Asp1745Asn NC_000006.12:64590633:C:T p.(Asp1745Asn) NC_000006.12:64590633:C:T p.(Asp1745Asn) NC_000006.12:64590633:C:T Identity +NM_001177316.2:c.493G>A NP_001170787.2:p.Val165Ile NC_000009.12:137233047:G:A p.(Val165Ile) NC_000009.12:137233047:G:A p.(Val165Ile) NC_000009.12:137233047:G:A Identity +NM_001164549.2:c.1641C>G NP_001158021.1:p.Cys547Trp NC_000001.11:231771076:C:G p.(Cys547Trp) NC_000001.11:231771076:C:G p.(Cys547Trp) NC_000001.11:231771076:C:G Identity +NM_014804.3:c.476A>C NP_055619.2:p.His159Pro NC_000017.11:6628358:T:G p.(His159Pro) NC_000017.11:6628358:T:G p.(His159Pro) NC_000017.11:6628358:T:G Identity +NM_001308006.2:c.671C>G NP_001294935.1:p.Thr224Ser NC_000018.10:49581513:C:G p.(Thr224Ser) NC_000018.10:49581513:C:G p.(Thr224Ser) NC_000018.10:49581513:C:G Identity +NM_001243079.2:c.994A>G NP_001230008.1:p.Met332Val NC_000019.10:1535232:A:G p.(Met332Val) NC_000019.10:1535232:A:G p.(Met332Val) NC_000019.10:1535232:A:G Identity +NM_001364517.2:c.376A>G NP_001351446.1:p.Ile126Val NC_000005.10:160413972:T:C p.(Ile126Val) NC_000005.10:160413972:T:C p.(Ile126Val) NC_000005.10:160413972:T:C Identity +NM_016941.4:c.1388G>T NP_058637.1:p.Arg463Leu NC_000019.10:39507332:G:T p.(Arg463Leu) NC_000019.10:39507332:G:T p.(Arg463Leu) NC_000019.10:39507332:G:T Identity +NM_000834.5:c.3881A>C NP_000825.2:p.Asn1294Thr NC_000012.12:13563356:T:G p.(Asn1294Thr) NC_000012.12:13563356:T:G p.(Asn1294Thr) NC_000012.12:13563356:T:G Identity +NM_001039375.3:c.583A>C NP_001034464.1:p.Asn195His NC_000020.11:13801632:A:C p.(Asn195His) NC_000020.11:13801632:A:C p.(Asn195His) NC_000020.11:13801632:A:C Identity +NM_014423.4:c.830G>C NP_055238.1:p.Ser277Thr NC_000005.10:132934234:C:G p.(Ser277Thr) NC_000005.10:132934234:C:G p.(Ser277Thr) NC_000005.10:132934234:C:G Identity +NM_001083926.2:c.385A>G NP_001077395.1:p.Met129Val NC_000011.10:62357037:A:G p.(Met129Val) NC_000011.10:62357037:A:G p.(Met129Val) NC_000011.10:62357037:A:G Identity +NM_001286365.2:c.542G>A NP_001273294.1:p.Arg181Gln NC_000001.11:36172544:G:A p.(Arg181Gln) NC_000001.11:36172544:G:A p.(Arg181Gln) NC_000001.11:36172544:G:A Identity +NM_001285549.2:c.1844G>A NP_001272478.1:p.Arg615His NC_000002.12:206306377:G:A p.(Arg615His) NC_000002.12:206306377:G:A p.(Arg615His) NC_000002.12:206306377:G:A Identity +NM_145290.4:c.3662G>A NP_660333.2:p.Arg1221Gln NC_000004.12:22388008:C:T p.(Arg1221Gln) NC_000004.12:22388008:C:T p.(Arg1221Gln) NC_000004.12:22388008:C:T Identity +NM_001304817.2:c.284C>T NP_001291746.1:p.Thr95Ile NC_000001.11:156346887:C:T p.(Thr95Ile) NC_000001.11:156346887:C:T p.(Thr95Ile) NC_000001.11:156346887:C:T Identity +NM_001135163.1:c.1094C>G NP_001128635.1:p.Ala365Gly NC_000019.10:49959040:G:C p.(Ala365Gly) NC_000019.10:49959040:G:C p.(Ala365Gly) NC_000019.10:49959040:G:C Identity +NM_019078.2:c.745G>C NP_061951.1:p.Val249Leu NC_000002.12:233713735:G:C p.(Val249Leu) NC_000002.12:233713735:G:C p.(Val249Leu) NC_000002.12:233713735:G:C Identity +NM_032888.4:c.1030T>A NP_116277.2:p.Ser344Thr NC_000009.12:114168584:T:A p.(Ser344Thr) NC_000009.12:114168584:T:A p.(Ser344Thr) NC_000009.12:114168584:T:A Identity +NM_001293557.2:c.2586A>C NP_001280486.1:p.Gln862His NC_000016.10:50719960:A:C p.(Gln862His) NC_000016.10:50719960:A:C p.(Gln862His) NC_000016.10:50719960:A:C Identity +NM_001005407.2:c.3617C>T NP_001005407.1:p.Pro1206Leu NC_000016.10:1209284:C:T p.(Pro1206Leu) NC_000016.10:1209284:C:T p.(Pro1206Leu) NC_000016.10:1209284:C:T Identity +NM_001349370.3:c.1165C>T NP_001336299.1:p.Arg389Cys NC_000003.12:47123338:G:A p.(Arg389Cys) NC_000003.12:47123338:G:A p.(Arg389Cys) NC_000003.12:47123338:G:A Identity +NM_001290332.2:c.388T>A NP_001277261.2:p.Phe130Ile NC_000011.10:1835969:T:A p.(Phe130Ile) NC_000011.10:1835969:T:A p.(Phe130Ile) NC_000011.10:1835969:T:A Identity +NM_001297658.2:c.371G>A NP_001284587.1:p.Arg124Gln NC_000011.10:2403003:G:A p.(Arg124Gln) NC_000011.10:2403003:G:A p.(Arg124Gln) NC_000011.10:2403003:G:A Identity +NM_001320198.2:c.979C>T NP_001307127.1:p.Arg327Cys NC_000012.12:52305740:C:T p.(Arg327Cys) NC_000012.12:52305740:C:T p.(Arg327Cys) NC_000012.12:52305740:C:T Identity +NM_014681.6:c.1246G>A NP_055496.2:p.Ala416Thr NC_000019.10:47358093:G:A p.(Ala416Thr) NC_000019.10:47358093:G:A p.(Ala416Thr) NC_000019.10:47358093:G:A Identity +NM_000092.5:c.8C>T NP_000083.3:p.Ser3Phe NC_000002.12:227147475:G:A p.(Ser3Phe) NC_000002.12:227147475:G:A p.(Ser3Phe) NC_000002.12:227147475:G:A Identity +NM_000014.6:c.782C>T NP_000005.3:p.Pro261Leu NC_000012.12:9107620:G:A p.(Pro261Leu) NC_000012.12:9107620:G:A p.(Pro261Leu) NC_000012.12:9107620:G:A Identity +NM_001282356.2:c.1045C>T NP_001269285.1:p.Leu349Phe NC_000008.11:91343370:C:T p.(Leu349Phe) NC_000008.11:91343370:C:T p.(Leu349Phe) NC_000008.11:91343370:C:T Identity +NM_001127505.3:c.310G>A NP_001120977.1:p.Gly104Ser NC_000008.11:18067273:C:T p.(Gly104Ser) NC_000008.11:18067273:C:T p.(Gly104Ser) NC_000008.11:18067273:C:T Identity +NM_030793.5:c.1958A>G NP_110420.3:p.Asn653Ser NC_000005.10:148427251:A:G p.(Asn653Ser) NC_000005.10:148427251:A:G p.(Asn653Ser) NC_000005.10:148427251:A:G Identity +NM_014439.4:c.454C>T NP_055254.2:p.Arg152Trp NC_000002.12:112918605:C:T p.(Arg152Trp) NC_000002.12:112918605:C:T p.(Arg152Trp) NC_000002.12:112918605:C:T Identity +NM_000835.6:c.140G>A NP_000826.2:p.Arg47His NC_000017.11:74854952:C:T p.(Arg47His) NC_000017.11:74854952:C:T p.(Arg47His) NC_000017.11:74854952:C:T Identity +NM_001794.5:c.97G>A NP_001785.2:p.Ala33Thr NC_000020.11:61254864:G:A p.(Ala33Thr) NC_000020.11:61254864:G:A p.(Ala33Thr) NC_000020.11:61254864:G:A Identity +NM_019120.5:c.2299C>T NP_061993.3:p.Leu767Phe NC_000005.10:141180332:C:T p.(Leu767Phe) NC_000005.10:141180332:C:T p.(Leu767Phe) NC_000005.10:141180332:C:T Identity +NM_017564.10:c.1521G>T NP_060034.9:p.Lys507Asn NC_000012.12:103654667:G:T p.(Lys507Asn) NC_000012.12:103654667:G:T p.(Lys507Asn) NC_000012.12:103654667:G:T Identity +NM_006903.4:c.53T>G NP_008834.3:p.Leu18Arg NC_000004.12:105473997:A:C p.(Leu18Arg) NC_000004.12:105473997:A:C p.(Leu18Arg) NC_000004.12:105473997:A:C Identity +NM_000094.4:c.2600C>T NP_000085.1:p.Pro867Leu NC_000003.12:48588391:G:A p.(Pro867Leu) NC_000003.12:48588391:G:A p.(Pro867Leu) NC_000003.12:48588391:G:A Identity +NM_001374769.1:c.1864T>C NP_001361698.1:p.Ser622Pro NC_000006.12:100390797:A:G p.(Ser622Pro) NC_000006.12:100390797:A:G p.(Ser622Pro) NC_000006.12:100390797:A:G Identity +NM_001271440.2:c.1A>G NP_001258369.1:p.Met1Val NC_000021.9:44339193:T:C p.(Met1Val) NC_000021.9:44339193:T:C p.Met1? NC_000021.9:44339193:T:C Identity +NM_022160.3:c.7C>T NP_071443.2:p.Arg3Trp NC_000009.12:22447071:C:T p.(Arg3Trp) NC_000009.12:22447071:C:T p.(Arg3Trp) NC_000009.12:22447071:C:T Identity +NM_001352252.2:c.662T>G NP_001339181.1:p.Leu221Trp NC_000013.11:110642489:A:C p.(Leu221Trp) NC_000013.11:110642489:A:C p.(Leu221Trp) NC_000013.11:110642489:A:C Identity +NM_030780.5:c.899A>G NP_110407.2:p.Tyr300Cys NC_000008.11:103400459:T:C p.(Tyr300Cys) NC_000008.11:103400459:T:C p.(Tyr300Cys) NC_000008.11:103400459:T:C Identity +NM_000922.4:c.3274G>C NP_000913.2:p.Glu1092Gln NC_000011.10:14869594:G:C p.(Glu1092Gln) NC_000011.10:14869594:G:C p.(Glu1092Gln) NC_000011.10:14869594:G:C Identity +NM_003718.5:c.2027G>A NP_003709.3:p.Ser676Asn NC_000007.14:39997648:G:A p.(Ser676Asn) NC_000007.14:39997648:G:A p.(Ser676Asn) NC_000007.14:39997648:G:A Identity +NM_000053.4:c.1883A>G NP_000044.2:p.His628Arg NC_000013.11:51961899:T:C p.(His628Arg) NC_000013.11:51961899:T:C p.(His628Arg) NC_000013.11:51961899:T:C Identity +NM_017839.5:c.382G>A NP_060309.2:p.Val128Ile NC_000016.10:55528446:G:A p.(Val128Ile) NC_000016.10:55528446:G:A p.(Val128Ile) NC_000016.10:55528446:G:A Identity +NM_015325.3:c.5086C>A NP_056140.1:p.Pro1696Thr NC_000005.10:5464419:C:A p.(Pro1696Thr) NC_000005.10:5464419:C:A p.(Pro1696Thr) NC_000005.10:5464419:C:A Identity +NM_007039.4:c.1800C>G NP_008970.2:p.His600Gln NC_000014.9:88479630:G:C p.(His600Gln) NC_000014.9:88479630:G:C p.(His600Gln) NC_000014.9:88479630:G:C Identity +NM_007050.6:c.2797G>C NP_008981.4:p.Val933Leu NC_000020.11:42128803:C:G p.(Val933Leu) NC_000020.11:42128803:C:G p.(Val933Leu) NC_000020.11:42128803:C:G Identity +NM_022748.12:c.3887C>T NP_073585.8:p.Thr1296Met NC_000007.14:47291995:G:A p.(Thr1296Met) NC_000007.14:47291995:G:A p.(Thr1296Met) NC_000007.14:47291995:G:A Identity +NM_001351530.2:c.1087C>G NP_001338459.1:p.Gln363Glu NC_000003.12:58866571:G:C p.(Gln363Glu) NC_000003.12:58866571:G:C p.(Gln363Glu) NC_000003.12:58866571:G:C Identity +NM_001184900.3:c.916G>A NP_001171829.1:p.Ala306Thr NC_000019.10:48230556:C:T p.(Ala306Thr) NC_000019.10:48230556:C:T p.(Ala306Thr) NC_000019.10:48230556:C:T Identity +NM_001271933.2:c.2030G>A NP_001258862.1:p.Arg677Gln NC_000011.10:117390862:G:A p.(Arg677Gln) NC_000011.10:117390862:G:A p.(Arg677Gln) NC_000011.10:117390862:G:A Identity +NM_001378414.1:c.1168G>A NP_001365343.1:p.Gly390Ser NC_000002.12:239134370:C:T p.(Gly390Ser) NC_000002.12:239134370:C:T p.(Gly390Ser) NC_000002.12:239134370:C:T Identity +NM_001014797.3:c.1919G>A NP_001014797.1:p.Arg640Gln NC_000010.11:77027831:C:T p.(Arg640Gln) NC_000010.11:77027831:C:T p.(Arg640Gln) NC_000010.11:77027831:C:T Identity +NM_017429.3:c.1415G>C NP_059125.2:p.Gly472Ala NC_000016.10:81290347:G:C p.(Gly472Ala) NC_000016.10:81290347:G:C p.(Gly472Ala) NC_000016.10:81290347:G:C Identity +NM_006685.4:c.155dup NP_006676.1:p.Pro53fs NC_000004.12:70389761:CC:CCC p.(Pro53ThrfsTer35) NC_000004.12:70389761:CC:CCC p.(Pro53ThrfsTer35) ERR:SPDI Analogous +NM_001130955.2:c.2867C>T NP_001124427.2:p.Ala956Val NC_000019.10:7468936:C:T p.(Ala956Val) NC_000019.10:7468936:C:T p.(Ala956Val) NC_000019.10:7468936:C:T Identity +NM_001100176.2:c.1963G>A NP_001093646.1:p.Glu655Lys NC_000019.10:12763568:C:T p.(Glu655Lys) NC_000019.10:12763568:C:T p.(Glu655Lys) NC_000019.10:12763568:C:T Identity +NM_001010898.4:c.424A>G NP_001010898.1:p.Ile142Val NC_000001.11:110172196:A:G p.(Ile142Val) NC_000001.11:110172196:A:G p.(Ile142Val) NC_000001.11:110172196:A:G Identity +NM_173689.7:c.883G>T NP_775960.4:p.Ala295Ser NC_000009.12:123367299:G:T p.(Ala295Ser) NC_000009.12:123367299:G:T p.(Ala295Ser) NC_000009.12:123367299:G:T Identity +NM_001384125.1:c.3845A>G NP_001371054.1:p.Glu1282Gly NC_000004.12:122239526:A:G p.(Glu1282Gly) NC_000004.12:122239526:A:G p.(Glu1282Gly) NC_000004.12:122239526:A:G Identity +NM_002562.6:c.920G>A NP_002553.3:p.Arg307Gln NC_000012.12:121175425:G:A p.(Arg307Gln) NC_000012.12:121175425:G:A p.(Arg307Gln) NC_000012.12:121175425:G:A Identity +NM_001146115.2:c.2264C>T NP_001139587.1:p.Pro755Leu NC_000021.9:46545959:C:T p.(Pro755Leu) NC_000021.9:46545959:C:T p.(Pro755Leu) NC_000021.9:46545959:C:T Identity +NM_001008743.3:c.607G>A NP_001008743.1:p.Glu203Lys NC_000002.12:108258813:G:A p.(Glu203Lys) NC_000002.12:108258813:G:A p.(Glu203Lys) NC_000002.12:108258813:G:A Identity +NM_001005407.2:c.3091G>A NP_001005407.1:p.Glu1031Lys NC_000016.10:1207796:G:A p.(Glu1031Lys) NC_000016.10:1207796:G:A p.(Glu1031Lys) NC_000016.10:1207796:G:A Identity +NM_002441.5:c.1738T>G NP_002432.1:p.Cys580Gly NC_000006.12:31760141:T:G p.(Cys580Gly) NC_000006.12:31760141:T:G p.(Cys580Gly) NC_000006.12:31760141:T:G Identity +NM_001009921.3:c.4115G>A NP_001009921.1:p.Arg1372His NC_000003.12:185048536:G:A p.(Arg1372His) NC_000003.12:185048536:G:A p.(Arg1372His) NC_000003.12:185048536:G:A Identity +NM_014510.3:c.962A>G NP_055325.2:p.His321Arg NC_000007.14:83155678:T:C p.(His321Arg) NC_000007.14:83155678:T:C p.(His321Arg) NC_000007.14:83155678:T:C Identity +NM_001371223.1:c.3649G>A NP_001358152.1:p.Val1217Ile NC_000009.12:37745680:G:A p.(Val1217Ile) NC_000009.12:37745680:G:A p.(Val1217Ile) NC_000009.12:37745680:G:A Identity +NM_002508.3:c.3487C>G NP_002499.2:p.Leu1163Val NC_000001.11:235979843:G:C p.(Leu1163Val) NC_000001.11:235979843:G:C p.(Leu1163Val) NC_000001.11:235979843:G:C Identity +NM_005554.4:c.628C>A NP_005545.1:p.Leu210Met NC_000012.12:52491648:G:T p.(Leu210Met) NC_000012.12:52491648:G:T p.(Leu210Met) NC_000012.12:52491648:G:T Identity +NM_001318245.2:c.1580C>T NP_001305174.1:p.Ala527Val NC_000022.11:25770871:C:T p.(Ala527Val) NC_000022.11:25770871:C:T p.(Ala527Val) NC_000022.11:25770871:C:T Identity +NM_001351018.2:c.241A>C NP_001337947.1:p.Ile81Leu NC_000012.12:122263593:T:G p.(Ile81Leu) NC_000012.12:122263593:T:G p.(Ile81Leu) NC_000012.12:122263593:T:G Identity +NM_001039476.3:c.115C>T NP_001034565.1:p.Arg39Trp NC_000016.10:100486:G:A p.(Arg39Trp) NC_000016.10:100486:G:A p.(Arg39Trp) NC_000016.10:100486:G:A Identity +NM_001271933.2:c.1700C>T NP_001258862.1:p.Ala567Val NC_000011.10:117382908:C:T p.(Ala567Val) NC_000011.10:117382908:C:T p.(Ala567Val) NC_000011.10:117382908:C:T Identity +NM_000909.6:c.1121A>C NP_000900.1:p.Lys374Thr NC_000004.12:163325336:T:G p.(Lys374Thr) NC_000004.12:163325336:T:G p.(Lys374Thr) NC_000004.12:163325336:T:G Identity +NM_001290341.2:c.211G>A NP_001277270.1:p.Val71Ile NC_000015.10:100490926:C:T p.(Val71Ile) NC_000015.10:100490926:C:T p.(Val71Ile) NC_000015.10:100490926:C:T Identity +NM_001146312.3:c.226G>A NP_001139784.1:p.Asp76Asn NC_000017.11:12717393:G:A p.(Asp76Asn) NC_000017.11:12717393:G:A p.(Asp76Asn) NC_000017.11:12717393:G:A Identity +NM_001330183.2:c.829G>A NP_001317112.1:p.Val277Ile NC_000017.11:35259518:G:A p.(Val277Ile) NC_000017.11:35259518:G:A p.(Val277Ile) NC_000017.11:35259518:G:A Identity +NM_024936.3:c.1145C>T NP_079212.2:p.Pro382Leu NC_000004.12:25362236:C:T p.(Pro382Leu) NC_000004.12:25362236:C:T p.(Pro382Leu) NC_000004.12:25362236:C:T Identity +NM_001308150.2:c.1086T>G NP_001295079.1:p.Phe362Leu NC_000005.10:151479415:T:G p.(Phe362Leu) NC_000005.10:151479415:T:G p.(Phe362Leu) NC_000005.10:151479415:T:G Identity +NM_033400.3:c.5006C>T NP_207646.2:p.Ala1669Val NC_000014.9:23524935:G:A p.(Ala1669Val) NC_000014.9:23524935:G:A p.(Ala1669Val) NC_000014.9:23524935:G:A Identity +NM_001206955.2:c.1759G>T NP_001193884.1:p.Ala587Ser NC_000003.12:3030950:G:T p.(Ala587Ser) NC_000003.12:3030950:G:T p.(Ala587Ser) NC_000003.12:3030950:G:T Identity +NM_017584.6:c.329A>G NP_060054.4:p.His110Arg NC_000022.11:50488036:A:G p.(His110Arg) NC_000022.11:50488036:A:G p.(His110Arg) NC_000022.11:50488036:A:G Identity +NM_181776.3:c.911C>T NP_861441.2:p.Ser304Phe NC_000005.10:151325384:G:A p.(Ser304Phe) NC_000005.10:151325384:G:A p.(Ser304Phe) NC_000005.10:151325384:G:A Identity +NM_031313.3:c.280C>T NP_112603.2:p.Pro94Ser NC_000002.12:232407380:C:T p.(Pro94Ser) NC_000002.12:232407380:C:T p.(Pro94Ser) NC_000002.12:232407380:C:T Identity +NM_001319111.2:c.29G>A NP_001306040.1:p.Gly10Glu NC_000003.12:113013347:C:T p.(Gly10Glu) NC_000003.12:113013347:C:T p.(Gly10Glu) NC_000003.12:113013347:C:T Identity +NM_007038.5:c.928C>T NP_008969.2:p.His310Tyr NC_000021.9:26965463:G:A p.(His310Tyr) NC_000021.9:26965463:G:A p.(His310Tyr) NC_000021.9:26965463:G:A Identity +NM_002034.2:c.1013C>T NP_002025.2:p.Thr338Met NC_000019.10:5866712:G:A p.(Thr338Met) NC_000019.10:5866712:G:A p.(Thr338Met) NC_000019.10:5866712:G:A Identity +NM_001277731.2:c.1321C>T NP_001264660.1:p.Arg441Trp NC_000017.11:42852663:C:T p.(Arg441Trp) NC_000017.11:42852663:C:T p.(Arg441Trp) NC_000017.11:42852663:C:T Identity +NM_001128608.2:c.2666C>T NP_001122080.1:p.Ser889Leu NC_000015.10:41820997:C:T p.(Ser889Leu) NC_000015.10:41820997:C:T p.(Ser889Leu) NC_000015.10:41820997:C:T Identity +NM_001172435.2:c.2821C>G NP_001165906.1:p.Pro941Ala NC_000002.12:135168634:C:G p.(Pro941Ala) NC_000002.12:135168634:C:G p.(Pro941Ala) NC_000002.12:135168634:C:G Identity +NM_001317163.2:c.3947G>A NP_001304092.1:p.Ser1316Asn NC_000009.12:120974866:C:T p.(Ser1316Asn) NC_000009.12:120974866:C:T p.(Ser1316Asn) NC_000009.12:120974866:C:T Identity +NM_001164496.2:c.3942T>A NP_001157968.1:p.Asp1314Glu NC_000003.12:113330341:A:T p.(Asp1314Glu) NC_000003.12:113330341:A:T p.(Asp1314Glu) NC_000003.12:113330341:A:T Identity +NM_001032281.4:c.440C>A NP_001027452.1:p.Thr147Lys NC_000002.12:187484905:G:T p.(Thr147Lys) NC_000002.12:187484905:G:T p.(Thr147Lys) NC_000002.12:187484905:G:T Identity +NM_001392019.1:c.1567G>A NP_001378948.1:p.Gly523Arg NC_000003.12:52802516:G:A p.(Gly523Arg) NC_000003.12:52802516:G:A p.(Gly523Arg) NC_000003.12:52802516:G:A Identity +NM_153209.4:c.1115G>A NP_694941.2:p.Arg372Gln NC_000017.11:74349250:G:A p.(Arg372Gln) NC_000017.11:74349250:G:A p.(Arg372Gln) NC_000017.11:74349250:G:A Identity +NM_001281739.3:c.2705G>A NP_001268668.1:p.Arg902Gln NC_000018.10:36718578:G:A p.(Arg902Gln) NC_000018.10:36718578:G:A p.(Arg902Gln) NC_000018.10:36718578:G:A Identity +NM_017554.3:c.4538C>T NP_060024.2:p.Ala1513Val NC_000003.12:122718688:C:T p.(Ala1513Val) NC_000003.12:122718688:C:T p.(Ala1513Val) NC_000003.12:122718688:C:T Identity +NM_005245.4:c.6054C>A NP_005236.2:p.Asn2018Lys NC_000004.12:186620531:G:T p.(Asn2018Lys) NC_000004.12:186620531:G:T p.(Asn2018Lys) NC_000004.12:186620531:G:T Identity +NM_182924.4:c.1988G>A NP_891554.1:p.Arg663His NC_000007.14:1438973:C:T p.(Arg663His) NC_000007.14:1438973:C:T p.(Arg663His) NC_000007.14:1438973:C:T Identity +NM_001289395.2:c.1138G>A NP_001276324.1:p.Glu380Lys NC_000006.12:35503584:C:T p.(Glu380Lys) NC_000006.12:35503584:C:T p.(Glu380Lys) NC_000006.12:35503584:C:T Identity +NM_016343.4:c.5924C>T NP_057427.3:p.Thr1975Met NC_000001.11:214645493:C:T p.(Thr1975Met) NC_000001.11:214645493:C:T p.(Thr1975Met) NC_000001.11:214645493:C:T Identity +NM_001135196.2:c.1565T>G NP_001128668.1:p.Val522Gly NC_000010.11:49324109:T:G p.(Val522Gly) NC_000010.11:49324109:T:G p.(Val522Gly) NC_000010.11:49324109:T:G Identity +NM_018727.5:c.1767C>G NP_061197.4:p.Phe589Leu NC_000017.11:3577138:G:C p.(Phe589Leu) NC_000017.11:3577138:G:C p.(Phe589Leu) NC_000017.11:3577138:G:C Identity +NM_000787.4:c.985C>T NP_000778.3:p.Arg329Cys NC_000009.12:133644280:C:T p.(Arg329Cys) NC_000009.12:133644280:C:T p.(Arg329Cys) NC_000009.12:133644280:C:T Identity +NM_001317902.2:c.88A>G NP_001304831.1:p.Lys30Glu NC_000008.11:55786264:A:G p.(Lys30Glu) NC_000008.11:55786264:A:G p.(Lys30Glu) NC_000008.11:55786264:A:G Identity +NM_001160167.2:c.8G>A NP_001153639.1:p.Arg3His NC_000011.10:36401128:G:A p.(Arg3His) NC_000011.10:36401128:G:A p.(Arg3His) NC_000011.10:36401128:G:A Identity +NM_000066.4:c.1144G>T NP_000057.3:p.Asp382Tyr NC_000001.11:56943785:C:A p.(Asp382Tyr) NC_000001.11:56943785:C:A p.(Asp382Tyr) NC_000001.11:56943785:C:A Identity +NM_001308045.2:c.1049G>A NP_001294974.1:p.Gly350Asp NC_000003.12:196886229:G:A p.(Gly350Asp) NC_000003.12:196886229:G:A p.(Gly350Asp) NC_000003.12:196886229:G:A Identity +NM_001168647.3:c.2893G>A NP_001162118.1:p.Asp965Asn NC_000023.11:21652398:G:A p.(Asp965Asn) NC_000023.11:21652398:G:A p.(Asp965Asn) NC_000023.11:21652398:G:A Identity +NM_001351693.2:c.2688G>T NP_001338622.1:p.Leu896Phe NC_000019.10:39423997:G:T p.(Leu896Phe) NC_000019.10:39423997:G:T p.(Leu896Phe) NC_000019.10:39423997:G:T Identity +NM_001177599.2:c.349G>A NP_001171070.1:p.Ala117Thr NC_000003.12:67528199:C:T p.(Ala117Thr) NC_000003.12:67528199:C:T p.(Ala117Thr) NC_000003.12:67528199:C:T Identity +NM_001242309.1:c.2562C>G NP_001229238.1:p.Ile854Met NC_000010.11:3138964:G:C p.(Ile854Met) NC_000010.11:3138964:G:C p.(Ile854Met) NC_000010.11:3138964:G:C Identity +NM_001004065.4:c.326C>T NP_001004065.2:p.Pro109Leu NC_000009.12:110136295:C:T p.(Pro109Leu) NC_000009.12:110136295:C:T p.(Pro109Leu) NC_000009.12:110136295:C:T Identity +NM_015001.3:c.7657A>G NP_055816.2:p.Ser2553Gly NC_000001.11:15933896:A:G p.(Ser2553Gly) NC_000001.11:15933896:A:G p.(Ser2553Gly) NC_000001.11:15933896:A:G Identity +NM_152701.5:c.3460T>G NP_689914.3:p.Trp1154Gly NC_000007.14:48273125:T:G p.(Trp1154Gly) NC_000007.14:48273125:T:G p.(Trp1154Gly) NC_000007.14:48273125:T:G Identity +NM_001242902.2:c.988A>G NP_001229831.1:p.Ser330Gly NC_000017.11:57106451:A:G ERR:Data provider error: ValueError: Transcript NM_001242902.2 not found ERR:Data provider error: ValueError: Transcript NM_001242902.2 not found ERR:AlignmentMapper(tx_ac=NM_001242902.2, alt_ac=NM_001242902.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001242902.2, alt_ac=NM_001242902.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001242902.2 not found +NM_001297592.2:c.3057G>C NP_001284521.1:p.Trp1019Cys NC_000004.12:25757711:C:G p.(Trp1019Cys) NC_000004.12:25757711:C:G p.(Trp1019Cys) NC_000004.12:25757711:C:G Identity +NM_182632.3:c.949A>G NP_872438.2:p.Asn317Asp NC_000005.10:1240633:A:G p.(Asn317Asp) NC_000005.10:1240633:A:G p.(Asn317Asp) NC_000005.10:1240633:A:G Identity +NM_001141973.3:c.3190G>A NP_001135445.1:p.Ala1064Thr NC_000001.11:16986834:C:T p.(Ala1064Thr) NC_000001.11:16986834:C:T p.(Ala1064Thr) NC_000001.11:16986834:C:T Identity +NM_001017922.2:c.11C>T NP_001017922.1:p.Ala4Val NC_000001.11:42830458:C:T p.(Ala4Val) NC_000001.11:42830458:C:T p.(Ala4Val) NC_000001.11:42830458:C:T Identity +NM_001349178.2:c.1042A>G NP_001336107.1:p.Asn348Asp NC_000003.12:38376153:A:G p.(Asn348Asp) NC_000003.12:38376153:A:G p.(Asn348Asp) NC_000003.12:38376153:A:G Identity +NM_001323505.2:c.1162G>A NP_001310434.1:p.Glu388Lys NC_000005.10:38904379:G:A p.(Glu388Lys) NC_000005.10:38904379:G:A p.(Glu388Lys) NC_000005.10:38904379:G:A Identity +NM_004666.3:c.974C>A NP_004657.2:p.Ala325Glu NC_000006.12:132692436:G:T p.(Ala325Glu) NC_000006.12:132692436:G:T p.(Ala325Glu) NC_000006.12:132692436:G:T Identity +NM_138295.5:c.6113C>G NP_612152.1:p.Thr2038Ser NC_000007.14:47834980:G:C p.(Thr2038Ser) NC_000007.14:47834980:G:C p.(Thr2038Ser) NC_000007.14:47834980:G:C Identity +NM_001304514.2:c.1546G>A NP_001291443.1:p.Asp516Asn NC_000007.14:152121638:G:A p.(Asp516Asn) NC_000007.14:152121638:G:A p.(Asp516Asn) NC_000007.14:152121638:G:A Identity +NM_001252274.3:c.164C>T NP_001239203.2:p.Ala55Val NC_000004.12:69647480:G:A p.(Ala55Val) NC_000004.12:69647480:G:A p.(Ala55Val) NC_000004.12:69647480:G:A Identity +NM_173689.7:c.1828C>T NP_775960.4:p.Arg610Trp NC_000009.12:123370880:C:T p.(Arg610Trp) NC_000009.12:123370880:C:T p.(Arg610Trp) NC_000009.12:123370880:C:T Identity +NM_001130103.2:c.451G>A NP_001123575.1:p.Ala151Thr NC_000010.11:69880517:G:A p.(Ala151Thr) NC_000010.11:69880517:G:A p.(Ala151Thr) NC_000010.11:69880517:G:A Identity +NM_022902.5:c.1448G>A NP_075053.2:p.Arg483Gln NC_000005.10:69118506:G:A p.(Arg483Gln) NC_000005.10:69118506:G:A p.(Arg483Gln) NC_000005.10:69118506:G:A Identity +NM_005363.5:c.343A>G NP_005354.1:p.Lys115Glu NC_000023.11:152767307:T:C p.(Lys115Glu) NC_000023.11:152767307:T:C p.(Lys115Glu) NC_000023.11:152767307:T:C Identity +NM_001105556.3:c.331T>C NP_001099026.1:p.Phe111Leu NC_000001.11:27879738:T:C p.(Phe111Leu) NC_000001.11:27879738:T:C p.(Phe111Leu) NC_000001.11:27879738:T:C Identity +NM_138441.3:c.50C>G NP_612450.2:p.Ala17Gly NC_000006.12:73452131:G:C p.(Ala17Gly) NC_000006.12:73452131:G:C p.(Ala17Gly) NC_000006.12:73452131:G:C Identity +NM_000428.3:c.4286G>A NP_000419.1:p.Arg1429Gln NC_000014.9:74505065:C:T p.(Arg1429Gln) NC_000014.9:74505065:C:T p.(Arg1429Gln) NC_000014.9:74505065:C:T Identity +NM_000680.4:c.460T>G NP_000671.2:p.Ser154Ala NC_000008.11:26864509:A:C p.(Ser154Ala) NC_000008.11:26864509:A:C p.(Ser154Ala) NC_000008.11:26864509:A:C Identity +NM_153610.5:c.10729A>G NP_705838.3:p.Ile3577Val NC_000005.10:79743916:A:G p.(Ile3577Val) NC_000005.10:79743916:A:G p.(Ile3577Val) NC_000005.10:79743916:A:G Identity +NM_000888.5:c.156A>G NP_000879.2:p.Pro52= NC_000002.12:160196405:T:C p.(Pro52=) NC_000002.12:160196405:T:C p.(Pro52=) NC_000002.12:160196405:T:C Identity +NM_144651.5:c.3398C>T NP_653252.4:p.Ala1133Val NC_000008.11:51408225:G:A p.(Ala1133Val) NC_000008.11:51408225:G:A p.(Ala1133Val) NC_000008.11:51408225:G:A Identity +NM_001008701.3:c.1273A>T NP_001008701.1:p.Thr425Ser NC_000019.10:14161563:T:A p.(Thr425Ser) NC_000019.10:14161563:T:A p.(Thr425Ser) NC_000019.10:14161563:T:A Identity +NM_001297573.2:c.1568A>G NP_001284502.1:p.Asn523Ser NC_000006.12:42264770:T:C p.(Asn523Ser) NC_000006.12:42264770:T:C p.(Asn523Ser) NC_000006.12:42264770:T:C Identity +NM_001079843.3:c.176C>T NP_001073312.1:p.Ser59Leu NC_000001.11:10665411:G:A p.(Ser59Leu) NC_000001.11:10665411:G:A p.(Ser59Leu) NC_000001.11:10665411:G:A Identity +NM_001408.3:c.7649G>A NP_001399.1:p.Arg2550Gln NC_000001.11:109271268:G:A p.(Arg2550Gln) NC_000001.11:109271268:G:A p.(Arg2550Gln) NC_000001.11:109271268:G:A Identity +NM_001323916.2:c.1684G>C NP_001310845.1:p.Gly562Arg NC_000004.12:158868250:G:C p.(Gly562Arg) NC_000004.12:158868250:G:C p.(Gly562Arg) NC_000004.12:158868250:G:C Identity +NM_152657.4:c.593C>T NP_689870.3:p.Pro198Leu NC_000019.10:38386668:G:A p.(Pro198Leu) NC_000019.10:38386668:G:A p.(Pro198Leu) NC_000019.10:38386668:G:A Identity +NM_021076.4:c.1723C>T NP_066554.2:p.Pro575Ser NC_000022.11:29489362:C:T p.(Pro575Ser) NC_000022.11:29489362:C:T p.(Pro575Ser) NC_000022.11:29489362:C:T Identity +NM_001282738.2:c.1520G>C NP_001269667.1:p.Ser507Thr NC_000022.11:30893489:G:C p.(Ser507Thr) NC_000022.11:30893489:G:C p.(Ser507Thr) NC_000022.11:30893489:G:C Identity +NM_001352265.2:c.619G>A NP_001339194.1:p.Val207Ile NC_000019.10:16157231:G:A p.(Val207Ile) NC_000019.10:16157231:G:A p.(Val207Ile) NC_000019.10:16157231:G:A Identity +NM_002337.4:c.595A>G NP_002328.1:p.Ile199Val NC_000004.12:3518189:T:C p.(Ile199Val) NC_000004.12:3518189:T:C p.(Ile199Val) NC_000004.12:3518189:T:C Identity +NM_001015880.2:c.841A>T NP_001015880.1:p.Met281Leu NC_000010.11:87715818:A:T p.(Met281Leu) NC_000010.11:87715818:A:T p.(Met281Leu) NC_000010.11:87715818:A:T Identity +NM_004274.5:c.1672A>G NP_004265.3:p.Asn558Asp NC_000014.9:32546324:A:G p.(Asn558Asp) NC_000014.9:32546324:A:G p.(Asn558Asp) NC_000014.9:32546324:A:G Identity +NM_001033053.3:c.3217C>T NP_001028225.1:p.His1073Tyr NC_000017.11:5532912:G:A p.(His1073Tyr) NC_000017.11:5532912:G:A p.(His1073Tyr) NC_000017.11:5532912:G:A Identity +NM_001005498.4:c.392G>A NP_001005498.2:p.Arg131His NC_000017.11:76479157:C:T p.(Arg131His) NC_000017.11:76479157:C:T p.(Arg131His) NC_000017.11:76479157:C:T Identity +NM_001388404.1:c.591C>A NP_001375333.1:p.Ser197Arg NC_000001.11:226736867:G:T p.(Ser197Arg) NC_000001.11:226736867:G:T p.(Ser197Arg) NC_000001.11:226736867:G:T Identity +NM_001033028.3:c.1414G>A NP_001028200.1:p.Gly472Ser NC_000015.10:22882980:C:T p.(Gly472Ser) NC_000015.10:22882980:C:T p.(Gly472Ser) NC_000015.10:22882980:C:T Identity +NM_000354.6:c.1242A>C NP_000345.2:p.Glu414Asp NC_000023.11:106033505:T:G p.(Glu414Asp) NC_000023.11:106033505:T:G p.(Glu414Asp) NC_000023.11:106033505:T:G Identity +NM_005791.3:c.122C>A NP_005782.1:p.Ser41Tyr NC_000002.12:71132929:C:A p.(Ser41Tyr) NC_000002.12:71132929:C:A p.(Ser41Tyr) NC_000002.12:71132929:C:A Identity +NM_007136.4:c.694del NP_009067.2:p.Leu232fs NC_000003.12:114236380:GGG:GG p.(Leu232SerfsTer46) NC_000003.12:114236380:GGG:GG p.(Leu232SerfsTer46) NC_000003.12:114236380:G: Analogous +NM_001330751.2:c.1328T>C NP_001317680.1:p.Leu443Ser NC_000004.12:23814169:A:G p.(Leu443Ser) NC_000004.12:23814169:A:G p.(Leu443Ser) NC_000004.12:23814169:A:G Identity +NM_001242350.3:c.50C>A NP_001229279.2:p.Thr17Asn NC_000006.12:132757833:G:T p.(Thr17Asn) NC_000006.12:132757833:G:T p.(Thr17Asn) NC_000006.12:132757833:G:T Identity +NM_001284351.3:c.1672G>A NP_001271280.1:p.Val558Met NC_000005.10:477392:C:T p.(Val558Met) NC_000005.10:477392:C:T p.(Val558Met) NC_000005.10:477392:C:T Identity +NM_001141979.3:c.2111A>G NP_001135451.1:p.Gln704Arg NC_000015.10:43456496:T:C p.(Gln704Arg) NC_000015.10:43456496:T:C p.(Gln704Arg) NC_000015.10:43456496:T:C Identity +NM_001284497.2:c.701G>A NP_001271426.1:p.Arg234Gln NC_000016.10:261506:G:A p.(Arg234Gln) NC_000016.10:261506:G:A p.(Arg234Gln) NC_000016.10:261506:G:A Identity +NM_005618.4:c.1330G>A NP_005609.3:p.Val444Met NC_000006.12:170283948:C:T p.(Val444Met) NC_000006.12:170283948:C:T p.(Val444Met) NC_000006.12:170283948:C:T Identity +NM_145292.4:c.586G>A NP_660335.2:p.Val196Ile NC_000007.14:151987208:G:A p.(Val196Ile) NC_000007.14:151987208:G:A p.(Val196Ile) NC_000007.14:151987208:G:A Identity +NM_020884.7:c.5056T>A NP_065935.4:p.Ser1686Thr NC_000020.11:35000566:T:A p.(Ser1686Thr) NC_000020.11:35000566:T:A p.(Ser1686Thr) NC_000020.11:35000566:T:A Identity +NM_052876.4:c.1462G>A NP_443108.1:p.Ala488Thr NC_000019.10:13138283:G:A p.(Ala488Thr) NC_000019.10:13138283:G:A p.(Ala488Thr) NC_000019.10:13138283:G:A Identity +NM_005618.4:c.1564G>A NP_005609.3:p.Glu522Lys NC_000006.12:170283714:C:T p.(Glu522Lys) NC_000006.12:170283714:C:T p.(Glu522Lys) NC_000006.12:170283714:C:T Identity +NM_001145036.2:c.1532C>G NP_001138508.1:p.Thr511Ser NC_000001.11:230687085:C:G p.(Thr511Ser) NC_000001.11:230687085:C:G p.(Thr511Ser) NC_000001.11:230687085:C:G Identity +NM_001317172.2:c.218A>T NP_001304101.2:p.Gln73Leu NC_000014.9:100729021:A:T p.(Gln73Leu) NC_000014.9:100729021:A:T p.(Gln73Leu) NC_000014.9:100729021:A:T Identity +NM_001278613.2:c.91C>T NP_001265542.1:p.Leu31Phe NC_000005.10:141869428:G:A p.(Leu31Phe) NC_000005.10:141869428:G:A p.(Leu31Phe) NC_000005.10:141869428:G:A Identity +NM_001062.4:c.1000A>G NP_001053.2:p.Ile334Val NC_000011.10:59854772:T:C p.(Ile334Val) NC_000011.10:59854772:T:C p.(Ile334Val) NC_000011.10:59854772:T:C Identity +NM_001134437.2:c.2809C>T NP_001127909.1:p.Arg937Trp NC_000003.12:111954013:C:T p.(Arg937Trp) NC_000003.12:111954013:C:T p.(Arg937Trp) NC_000003.12:111954013:C:T Identity +NM_001134453.3:c.236C>T NP_001127925.1:p.Ser79Leu NC_000018.10:31388385:C:T p.(Ser79Leu) NC_000018.10:31388385:C:T p.(Ser79Leu) NC_000018.10:31388385:C:T Identity +NM_001363711.2:c.3367G>A NP_001350640.1:p.Ala1123Thr NC_000015.10:45099709:C:T p.(Ala1123Thr) NC_000015.10:45099709:C:T p.(Ala1123Thr) NC_000015.10:45099709:C:T Identity +NM_000919.4:c.92T>A NP_000910.2:p.Phe31Tyr NC_000005.10:102867274:T:A p.(Phe31Tyr) NC_000005.10:102867274:T:A p.(Phe31Tyr) NC_000005.10:102867274:T:A Identity +NM_000781.3:c.535G>A NP_000772.2:p.Val179Ile NC_000015.10:74345133:C:T p.(Val179Ile) NC_000015.10:74345133:C:T p.(Val179Ile) NC_000015.10:74345133:C:T Identity +NM_201269.3:c.1696A>T NP_958357.1:p.Thr566Ser NC_000001.11:90939657:T:A p.(Thr566Ser) NC_000001.11:90939657:T:A p.(Thr566Ser) NC_000001.11:90939657:T:A Identity +NM_001368172.1:c.28G>A NP_001355101.1:p.Gly10Arg NC_000006.12:110413434:C:T p.(Gly10Arg) NC_000006.12:110413434:C:T p.(Gly10Arg) NC_000006.12:110413434:C:T Identity +NM_005564.5:c.26G>T NP_005555.2:p.Gly9Val NC_000009.12:128149550:G:T p.(Gly9Val) NC_000009.12:128149550:G:T p.(Gly9Val) NC_000009.12:128149550:G:T Identity +NM_000085.5:c.310G>A NP_000076.2:p.Val104Ile NC_000001.11:16046614:G:A p.(Val104Ile) NC_000001.11:16046614:G:A p.(Val104Ile) NC_000001.11:16046614:G:A Identity +NM_015909.4:c.3755C>A NP_056993.2:p.Ser1252Tyr NC_000002.12:15366641:G:T p.(Ser1252Tyr) NC_000002.12:15366641:G:T p.(Ser1252Tyr) NC_000002.12:15366641:G:T Identity +NM_032494.3:c.194A>G NP_115883.2:p.His65Arg NC_000002.12:112238490:T:C p.(His65Arg) NC_000002.12:112238490:T:C p.(His65Arg) NC_000002.12:112238490:T:C Identity +NM_015721.3:c.1504A>G NP_056536.2:p.Ile502Val NC_000017.11:746538:T:C p.(Ile502Val) NC_000017.11:746538:T:C p.(Ile502Val) NC_000017.11:746538:T:C Identity +NM_001320350.2:c.4256A>G NP_001307279.2:p.Lys1419Arg NC_000021.9:44437105:A:G p.(Lys1419Arg) NC_000021.9:44437105:A:G p.(Lys1419Arg) NC_000021.9:44437105:A:G Identity +NM_001146726.2:c.536C>T NP_001140198.1:p.Thr179Ile NC_000005.10:156951654:G:A p.(Thr179Ile) NC_000005.10:156951654:G:A p.(Thr179Ile) NC_000005.10:156951654:G:A Identity +NM_003979.4:c.71C>G NP_003970.1:p.Ala24Gly NC_000012.12:12908319:C:G p.(Ala24Gly) NC_000012.12:12908319:C:G p.(Ala24Gly) NC_000012.12:12908319:C:G Identity +NM_080552.3:c.1267A>G NP_542119.1:p.Ser423Gly NC_000020.11:38728327:A:G p.(Ser423Gly) NC_000020.11:38728327:A:G p.(Ser423Gly) NC_000020.11:38728327:A:G Identity +NM_001362819.2:c.320C>T NP_001349748.1:p.Ala107Val NC_000008.11:18872444:G:A p.(Ala107Val) NC_000008.11:18872444:G:A p.(Ala107Val) NC_000008.11:18872444:G:A Identity +NM_152640.5:c.1151G>A NP_689853.3:p.Arg384His NC_000012.12:1952788:C:T p.(Arg384His) NC_000012.12:1952788:C:T p.(Arg384His) NC_000012.12:1952788:C:T Identity +NM_031949.5:c.605T>C NP_114155.4:p.Leu202Pro NC_000006.12:167340504:T:C p.(Leu202Pro) NC_000006.12:167340504:T:C p.(Leu202Pro) NC_000006.12:167340504:T:C Identity +NM_024122.5:c.496T>G NP_077027.1:p.Leu166Val NC_000023.11:23856366:A:C p.(Leu166Val) NC_000023.11:23856366:A:C p.(Leu166Val) NC_000023.11:23856366:A:C Identity +NM_032538.3:c.1838C>T NP_115927.1:p.Pro613Leu NC_000006.12:43263201:C:T p.(Pro613Leu) NC_000006.12:43263201:C:T p.(Pro613Leu) NC_000006.12:43263201:C:T Identity +NM_033198.4:c.758G>A NP_149975.1:p.Arg253His NC_000017.11:28560109:C:T p.(Arg253His) NC_000017.11:28560109:C:T p.(Arg253His) NC_000017.11:28560109:C:T Identity +NM_001161630.1:c.1142G>A NP_001155102.1:p.Cys381Tyr NC_000011.10:95026698:G:A p.(Cys381Tyr) NC_000011.10:95026698:G:A p.(Cys381Tyr) NC_000011.10:95026698:G:A Identity +NM_001326358.2:c.2352C>G NP_001313287.1:p.Ile784Met NC_000016.10:77295060:G:C p.(Ile784Met) NC_000016.10:77295060:G:C p.(Ile784Met) NC_000016.10:77295060:G:C Identity +NM_001304361.2:c.427A>G NP_001291290.1:p.Ser143Gly NC_000002.12:112756448:T:C p.(Ser143Gly) NC_000002.12:112756448:T:C p.(Ser143Gly) NC_000002.12:112756448:T:C Identity +NM_000594.4:c.251C>T NP_000585.2:p.Pro84Leu NC_000006.12:31576784:C:T p.(Pro84Leu) NC_000006.12:31576784:C:T p.(Pro84Leu) NC_000006.12:31576784:C:T Identity +NM_138295.5:c.7180A>G NP_612152.1:p.Arg2394Gly NC_000007.14:47813286:T:C p.(Arg2394Gly) NC_000007.14:47813286:T:C p.(Arg2394Gly) NC_000007.14:47813286:T:C Identity +NM_001944.3:c.1723C>T NP_001935.2:p.Arg575Trp NC_000018.10:31469174:C:T p.(Arg575Trp) NC_000018.10:31469174:C:T p.(Arg575Trp) NC_000018.10:31469174:C:T Identity +NM_001297755.2:c.53A>G NP_001284684.2:p.Asn18Ser NC_000004.12:83455640:T:C p.(Asn18Ser) NC_000004.12:83455640:T:C p.(Asn18Ser) NC_000004.12:83455640:T:C Identity +NM_001350039.2:c.58T>C NP_001336968.1:p.Trp20Arg NC_000022.11:40401642:T:C p.(Trp20Arg) NC_000022.11:40401642:T:C p.(Trp20Arg) NC_000022.11:40401642:T:C Identity +NM_001145271.2:c.5T>C NP_001138743.1:p.Ile2Thr NC_000008.11:24393295:T:C p.(Ile2Thr) NC_000008.11:24393295:T:C p.(Ile2Thr) NC_000008.11:24393295:T:C Identity +NM_004701.4:c.1184T>C NP_004692.1:p.Ile395Thr NC_000015.10:59124863:T:C p.(Ile395Thr) NC_000015.10:59124863:T:C p.(Ile395Thr) NC_000015.10:59124863:T:C Identity +NM_003489.4:c.109G>A NP_003480.2:p.Val37Ile NC_000021.9:14968083:C:T p.(Val37Ile) NC_000021.9:14968083:C:T p.(Val37Ile) NC_000021.9:14968083:C:T Identity +NM_014258.4:c.3023C>T NP_055073.2:p.Pro1008Leu NC_000020.11:59877511:G:A p.(Pro1008Leu) NC_000020.11:59877511:G:A p.(Pro1008Leu) NC_000020.11:59877511:G:A Identity +NM_022161.4:c.610C>T NP_071444.1:p.Pro204Ser NC_000020.11:63239193:C:T p.(Pro204Ser) NC_000020.11:63239193:C:T p.(Pro204Ser) NC_000020.11:63239193:C:T Identity +NM_001144951.2:c.667A>G NP_001138423.1:p.Thr223Ala NC_000003.12:52292396:A:G p.(Thr223Ala) NC_000003.12:52292396:A:G p.(Thr223Ala) NC_000003.12:52292396:A:G Identity +NM_002472.3:c.143C>T NP_002463.2:p.Ser48Phe NC_000017.11:10420084:G:A p.(Ser48Phe) NC_000017.11:10420084:G:A p.(Ser48Phe) NC_000017.11:10420084:G:A Identity +NM_001376857.1:c.1542C>G NP_001363786.1:p.Ser514Arg NC_000001.11:32195095:C:G p.(Ser514Arg) NC_000001.11:32195095:C:G p.(Ser514Arg) NC_000001.11:32195095:C:G Identity +NM_001030015.3:c.1364G>A NP_001025186.1:p.Gly455Asp NC_000010.11:86663734:G:A p.(Gly455Asp) NC_000010.11:86663734:G:A p.(Gly455Asp) NC_000010.11:86663734:G:A Identity +NM_003393.4:c.1002C>A NP_003384.2:p.Ser334Arg NC_000010.11:100482761:C:A p.(Ser334Arg) NC_000010.11:100482761:C:A p.(Ser334Arg) NC_000010.11:100482761:C:A Identity +NM_001367759.1:c.3662C>T NP_001354688.1:p.Thr1221Ile NC_000006.12:121090967:G:A p.(Thr1221Ile) NC_000006.12:121090967:G:A p.(Thr1221Ile) NC_000006.12:121090967:G:A Identity +NM_001284271.2:c.899A>G NP_001271200.1:p.Asp300Gly NC_000006.12:100805782:T:C p.(Asp300Gly) NC_000006.12:100805782:T:C p.(Asp300Gly) NC_000006.12:100805782:T:C Identity +NM_001286561.2:c.5917C>T NP_001273490.1:p.Arg1973Cys NC_000011.10:72004686:G:A p.(Arg1973Cys) NC_000011.10:72004686:G:A p.(Arg1973Cys) NC_000011.10:72004686:G:A Identity +NM_006039.5:c.4291G>A NP_006030.2:p.Ala1431Thr NC_000017.11:62692301:G:A p.(Ala1431Thr) NC_000017.11:62692301:G:A p.(Ala1431Thr) NC_000017.11:62692301:G:A Identity +NM_001042681.2:c.215C>T NP_001036146.1:p.Thr72Met NC_000001.11:8656082:G:A p.(Thr72Met) NC_000001.11:8656082:G:A p.(Thr72Met) NC_000001.11:8656082:G:A Identity +NM_001261408.2:c.628G>A NP_001248337.1:p.Glu210Lys NC_000001.11:93589277:C:T p.(Glu210Lys) NC_000001.11:93589277:C:T p.(Glu210Lys) NC_000001.11:93589277:C:T Identity +NM_001286838.1:c.1933G>A NP_001273767.1:p.Val645Ile NC_000004.12:93626292:G:A p.(Val645Ile) NC_000004.12:93626292:G:A p.(Val645Ile) NC_000004.12:93626292:G:A Identity +NM_153610.5:c.440G>A NP_705838.3:p.Arg147Gln NC_000005.10:79729204:G:A p.(Arg147Gln) NC_000005.10:79729204:G:A p.(Arg147Gln) NC_000005.10:79729204:G:A Identity +NM_001172698.2:c.1382C>T NP_001166169.1:p.Ser461Leu NC_000005.10:149833571:C:T p.(Ser461Leu) NC_000005.10:149833571:C:T p.(Ser461Leu) NC_000005.10:149833571:C:T Identity +NM_001289861.2:c.3089C>T NP_001276790.1:p.Thr1030Ile NC_000001.11:7830092:C:T p.(Thr1030Ile) NC_000001.11:7830092:C:T p.(Thr1030Ile) NC_000001.11:7830092:C:T Identity +NM_001378125.1:c.13381G>A NP_001365054.1:p.Val4461Ile NC_000002.12:32593942:G:A p.(Val4461Ile) NC_000002.12:32593942:G:A p.(Val4461Ile) NC_000002.12:32593942:G:A Identity +NM_004104.5:c.5737G>A NP_004095.4:p.Val1913Met NC_000017.11:82082943:C:T p.(Val1913Met) NC_000017.11:82082943:C:T p.(Val1913Met) NC_000017.11:82082943:C:T Identity +NM_000721.4:c.2588G>A NP_000712.2:p.Arg863Gln NC_000001.11:181732673:G:A p.(Arg863Gln) NC_000001.11:181732673:G:A p.(Arg863Gln) NC_000001.11:181732673:G:A Identity +NM_002114.4:c.6884C>T NP_002105.3:p.Ser2295Phe NC_000006.12:12161834:C:T p.(Ser2295Phe) NC_000006.12:12161834:C:T p.(Ser2295Phe) NC_000006.12:12161834:C:T Identity +NM_001162499.2:c.3082C>T NP_001155971.1:p.Arg1028Cys NC_000003.12:12825510:C:T p.(Arg1028Cys) NC_000003.12:12825510:C:T p.(Arg1028Cys) NC_000003.12:12825510:C:T Identity +NM_001013406.2:c.235A>G NP_001013424.1:p.Ile79Val NC_000007.14:92241019:T:C p.(Ile79Val) NC_000007.14:92241019:T:C p.(Ile79Val) NC_000007.14:92241019:T:C Identity +NM_001261456.2:c.586C>A NP_001248385.1:p.Pro196Thr NC_000001.11:160813766:C:A p.(Pro196Thr) NC_000001.11:160813766:C:A p.(Pro196Thr) NC_000001.11:160813766:C:A Identity +NM_001134382.3:c.3250G>A NP_001127854.1:p.Val1084Met NC_000003.12:12901077:C:T p.(Val1084Met) NC_000003.12:12901077:C:T p.(Val1084Met) NC_000003.12:12901077:C:T Identity +NM_014208.3:c.802G>T NP_055023.2:p.Gly268Trp NC_000004.12:87612987:G:T p.(Gly268Trp) NC_000004.12:87612987:G:T p.(Gly268Trp) NC_000004.12:87612987:G:T Identity +NM_001256876.3:c.346A>G NP_001243805.1:p.Thr116Ala NC_000009.12:711111:A:G p.(Thr116Ala) NC_000009.12:711111:A:G p.(Thr116Ala) NC_000009.12:711111:A:G Identity +NM_001346445.2:c.8417G>A NP_001333374.1:p.Cys2806Tyr NC_000011.10:62525999:C:T p.(Cys2806Tyr) NC_000011.10:62525999:C:T p.(Cys2806Tyr) NC_000011.10:62525999:C:T Identity +NM_139057.4:c.2171G>A NP_620688.2:p.Ser724Asn NC_000015.10:100054020:C:T p.(Ser724Asn) NC_000015.10:100054020:C:T p.(Ser724Asn) NC_000015.10:100054020:C:T Identity +NM_001281520.2:c.548A>G NP_001268449.1:p.Asn183Ser NC_000020.11:5957186:A:G p.(Asn183Ser) NC_000020.11:5957186:A:G p.(Asn183Ser) NC_000020.11:5957186:A:G Identity +NM_005560.6:c.10093A>G NP_005551.3:p.Ser3365Gly NC_000020.11:62311089:T:C p.(Ser3365Gly) NC_000020.11:62311089:T:C p.(Ser3365Gly) NC_000020.11:62311089:T:C Identity +NM_002160.4:c.2207A>G NP_002151.2:p.Asp736Gly NC_000009.12:115082731:T:C p.(Asp736Gly) NC_000009.12:115082731:T:C p.(Asp736Gly) NC_000009.12:115082731:T:C Identity +NM_019016.3:c.343G>A NP_061889.2:p.Ala115Thr NC_000017.11:40703350:C:T p.(Ala115Thr) NC_000017.11:40703350:C:T p.(Ala115Thr) NC_000017.11:40703350:C:T Identity +NM_005559.4:c.5794C>G NP_005550.2:p.Leu1932Val NC_000018.10:6983100:G:C p.(Leu1932Val) NC_000018.10:6983100:G:C p.(Leu1932Val) NC_000018.10:6983100:G:C Identity +NM_000160.5:c.1372G>C NP_000151.1:p.Asp458His NC_000017.11:81813626:G:C p.(Asp458His) NC_000017.11:81813626:G:C p.(Asp458His) NC_000017.11:81813626:G:C Identity +NM_001256421.1:c.184A>G NP_001243350.1:p.Ile62Val NC_000004.12:83544577:A:G p.(Ile62Val) NC_000004.12:83544577:A:G p.(Ile62Val) NC_000004.12:83544577:A:G Identity +NM_001367562.3:c.335C>T NP_001354491.2:p.Ala112Val NC_000007.14:75979556:C:T p.(Ala112Val) NC_000007.14:75979556:C:T p.(Ala112Val) NC_000007.14:75979556:C:T Identity +NM_025048.4:c.288C>G NP_079324.2:p.Ser96Arg NC_000006.12:47024206:G:C p.(Ser96Arg) NC_000006.12:47024206:G:C p.(Ser96Arg) NC_000006.12:47024206:G:C Identity +NM_001290321.3:c.3319G>T NP_001277250.1:p.Asp1107Tyr NC_000005.10:119149145:G:T p.(Asp1107Tyr) NC_000005.10:119149145:G:T p.(Asp1107Tyr) NC_000005.10:119149145:G:T Identity +NM_001143836.3:c.1288C>T NP_001137308.2:p.Arg430Cys NC_000011.10:89340100:G:A p.(Arg430Cys) NC_000011.10:89340100:G:A p.(Arg430Cys) NC_000011.10:89340100:G:A Identity +NM_014510.3:c.3669A>T NP_055325.2:p.Glu1223Asp NC_000007.14:82966118:T:A p.(Glu1223Asp) NC_000007.14:82966118:T:A p.(Glu1223Asp) NC_000007.14:82966118:T:A Identity +NM_004770.3:c.1970A>G NP_004761.2:p.Glu657Gly NC_000008.11:72937324:A:G p.(Glu657Gly) NC_000008.11:72937324:A:G p.(Glu657Gly) NC_000008.11:72937324:A:G Identity +NM_001256568.2:c.506G>A NP_001243497.2:p.Arg169His NC_000011.10:7628299:G:A p.(Arg169His) NC_000011.10:7628299:G:A p.(Arg169His) NC_000011.10:7628299:G:A Identity +NM_005161.6:c.898G>A NP_005152.1:p.Val300Ile NC_000011.10:57236106:C:T p.(Val300Ile) NC_000011.10:57236106:C:T p.(Val300Ile) NC_000011.10:57236106:C:T Identity +NM_001039886.4:c.402G>C NP_001034975.2:p.Lys134Asn NC_000019.10:52553317:G:C p.(Lys134Asn) NC_000019.10:52553317:G:C p.(Lys134Asn) NC_000019.10:52553317:G:C Identity +NM_002705.5:c.2054C>G NP_002696.4:p.Thr685Arg NC_000016.10:4890835:G:C p.(Thr685Arg) NC_000016.10:4890835:G:C p.(Thr685Arg) NC_000016.10:4890835:G:C Identity +NM_000797.4:c.31G>C NP_000788.2:p.Gly11Arg NC_000011.10:637334:G:C p.(Gly11Arg) NC_000011.10:637334:G:C p.(Gly11Arg) NC_000011.10:637334:G:C Identity +NM_001014986.3:c.478C>G NP_001014986.1:p.Pro160Ala NC_000011.10:49192827:G:C p.(Pro160Ala) NC_000011.10:49192827:G:C p.(Pro160Ala) NC_000011.10:49192827:G:C Identity +NM_001017526.2:c.1049G>T NP_001017526.1:p.Arg350Leu NC_000022.11:44859808:G:T p.(Arg350Leu) NC_000022.11:44859808:G:T p.(Arg350Leu) NC_000022.11:44859808:G:T Identity +NM_001113182.3:c.712C>T NP_001106653.1:p.Leu238Phe NC_000006.12:32976350:C:T p.(Leu238Phe) NC_000006.12:32976350:C:T p.(Leu238Phe) NC_000006.12:32976350:C:T Identity +NM_001085458.2:c.1390C>T NP_001078927.1:p.Arg464Cys NC_000011.10:57802165:C:T p.(Arg464Cys) NC_000011.10:57802165:C:T p.(Arg464Cys) NC_000011.10:57802165:C:T Identity +NM_001374294.1:c.214G>A NP_001361223.1:p.Ala72Thr NC_000002.12:219501550:G:A p.(Ala72Thr) NC_000002.12:219501550:G:A p.(Ala72Thr) NC_000002.12:219501550:G:A Identity +NM_015325.3:c.4964C>T NP_056140.1:p.Ser1655Leu NC_000005.10:5464297:C:T p.(Ser1655Leu) NC_000005.10:5464297:C:T p.(Ser1655Leu) NC_000005.10:5464297:C:T Identity +NM_015721.3:c.2346C>G NP_056536.2:p.Phe782Leu NC_000017.11:745696:G:C p.(Phe782Leu) NC_000017.11:745696:G:C p.(Phe782Leu) NC_000017.11:745696:G:C Identity +NM_001141973.3:c.3475C>A NP_001135445.1:p.Arg1159= NC_000001.11:16986273:G:T p.(Arg1159=) NC_000001.11:16986273:G:T p.(Arg1159=) NC_000001.11:16986273:G:T Identity +NM_001252119.2:c.2054C>G NP_001239048.1:p.Thr685Arg NC_000002.12:241126860:G:C p.(Thr685Arg) NC_000002.12:241126860:G:C p.(Thr685Arg) NC_000002.12:241126860:G:C Identity +NM_144563.3:c.106C>A NP_653164.2:p.Leu36Ile NC_000002.12:88691803:C:A p.(Leu36Ile) NC_000002.12:88691803:C:A p.(Leu36Ile) NC_000002.12:88691803:C:A Identity +NM_001130053.5:c.205G>A NP_001123525.3:p.Gly69Ser NC_000008.11:143589876:C:T p.(Gly69Ser) NC_000008.11:143589876:C:T p.(Gly69Ser) NC_000008.11:143589876:C:T Identity +NM_001098816.3:c.7729G>T NP_001092286.2:p.Gly2577Cys NC_000011.10:78658638:C:A p.(Gly2577Cys) NC_000011.10:78658638:C:A p.(Gly2577Cys) NC_000011.10:78658638:C:A Identity +NM_000578.4:c.1328T>C NP_000569.3:p.Val443Ala NC_000002.12:218394132:T:C p.(Val443Ala) NC_000002.12:218394132:T:C p.(Val443Ala) NC_000002.12:218394132:T:C Identity +NM_002772.3:c.2704C>G NP_002763.3:p.Gln902Glu NC_000021.9:18279023:G:C p.(Gln902Glu) NC_000021.9:18279023:G:C p.(Gln902Glu) NC_000021.9:18279023:G:C Identity +NM_018414.5:c.619A>C NP_060884.1:p.Thr207Pro NC_000017.11:76629223:T:G p.(Thr207Pro) NC_000017.11:76629223:T:G p.(Thr207Pro) NC_000017.11:76629223:T:G Identity +NM_001371695.1:c.1198G>A NP_001358624.1:p.Glu400Lys NC_000002.12:203296498:G:A p.(Glu400Lys) NC_000002.12:203296498:G:A p.(Glu400Lys) NC_000002.12:203296498:G:A Identity +NM_001289861.2:c.3497G>C NP_001276790.1:p.Cys1166Ser NC_000001.11:7842675:G:C p.(Cys1166Ser) NC_000001.11:7842675:G:C p.(Cys1166Ser) NC_000001.11:7842675:G:C Identity +NM_001198665.2:c.3637T>A NP_001185594.1:p.Tyr1213Asn NC_000011.10:120478316:T:A p.(Tyr1213Asn) NC_000011.10:120478316:T:A p.(Tyr1213Asn) NC_000011.10:120478316:T:A Identity +NM_001167671.3:c.1717G>A NP_001161143.1:p.Gly573Ser NC_000003.12:188874356:G:A p.(Gly573Ser) NC_000003.12:188874356:G:A p.(Gly573Ser) NC_000003.12:188874356:G:A Identity +NM_001130053.5:c.347C>T NP_001123525.3:p.Ser116Leu NC_000008.11:143589734:G:A p.(Ser116Leu) NC_000008.11:143589734:G:A p.(Ser116Leu) NC_000008.11:143589734:G:A Identity +NM_001098816.3:c.7913G>A NP_001092286.2:p.Arg2638Gln NC_000011.10:78658454:C:T p.(Arg2638Gln) NC_000011.10:78658454:C:T p.(Arg2638Gln) NC_000011.10:78658454:C:T Identity +NM_001320424.1:c.371G>C NP_001307353.1:p.Trp124Ser NC_000014.9:104743103:G:C p.(Trp124Ser) NC_000014.9:104743103:G:C p.(Trp124Ser) NC_000014.9:104743103:G:C Identity +NM_001321207.2:c.1164A>C NP_001308136.1:p.Gln388His NC_000017.11:31993272:A:C p.(Gln388His) NC_000017.11:31993272:A:C p.(Gln388His) NC_000017.11:31993272:A:C Identity +NM_001356505.2:c.679C>T NP_001343434.1:p.Arg227Cys NC_000001.11:177961697:G:A p.(Arg227Cys) NC_000001.11:177961697:G:A p.(Arg227Cys) NC_000001.11:177961697:G:A Identity +NM_001129908.3:c.616G>C NP_001123380.2:p.Ala206Pro NC_000003.12:43032878:G:C p.(Ala206Pro) NC_000003.12:43032878:G:C p.(Ala206Pro) NC_000003.12:43032878:G:C Identity +NM_001144763.2:c.3212T>C NP_001138235.1:p.Met1071Thr NC_000011.10:108512066:A:G p.(Met1071Thr) NC_000011.10:108512066:A:G p.(Met1071Thr) NC_000011.10:108512066:A:G Identity +NM_020700.2:c.613A>C NP_065751.1:p.Thr205Pro NC_000012.12:62801958:T:G p.(Thr205Pro) NC_000012.12:62801958:T:G p.(Thr205Pro) NC_000012.12:62801958:T:G Identity +NM_001083617.2:c.4351A>G NP_001077086.1:p.Met1451Val NC_000008.11:52636055:T:C p.(Met1451Val) NC_000008.11:52636055:T:C p.(Met1451Val) NC_000008.11:52636055:T:C Identity +NM_032178.3:c.70G>A NP_115554.2:p.Val24Met NC_000016.10:68310856:C:T p.(Val24Met) NC_000016.10:68310856:C:T p.(Val24Met) NC_000016.10:68310856:C:T Identity +NM_030928.4:c.248C>T NP_112190.2:p.Pro83Leu NC_000016.10:88804563:C:T p.(Pro83Leu) NC_000016.10:88804563:C:T p.(Pro83Leu) NC_000016.10:88804563:C:T Identity +NM_005251.3:c.566C>A NP_005242.1:p.Ala189Glu NC_000016.10:86567900:C:A p.(Ala189Glu) NC_000016.10:86567900:C:A p.(Ala189Glu) NC_000016.10:86567900:C:A Identity +NM_014452.5:c.1159G>A NP_055267.1:p.Ala387Thr NC_000006.12:47284021:C:T p.(Ala387Thr) NC_000006.12:47284021:C:T p.(Ala387Thr) NC_000006.12:47284021:C:T Identity +NM_003764.4:c.221C>T NP_003755.2:p.Thr74Met NC_000006.12:144186847:C:T p.(Thr74Met) NC_000006.12:144186847:C:T p.(Thr74Met) NC_000006.12:144186847:C:T Identity +NM_001145923.2:c.2552A>G NP_001139395.1:p.Asn851Ser NC_000015.10:76434098:T:C p.(Asn851Ser) NC_000015.10:76434098:T:C p.(Asn851Ser) NC_000015.10:76434098:T:C Identity +NM_001005174.3:c.683T>C NP_001005174.1:p.Met228Thr NC_000011.10:5821017:T:C p.(Met228Thr) NC_000011.10:5821017:T:C p.(Met228Thr) NC_000011.10:5821017:T:C Identity +NM_176822.4:c.1294G>T NP_789792.1:p.Ala432Ser NC_000011.10:7043319:G:T p.(Ala432Ser) NC_000011.10:7043319:G:T p.(Ala432Ser) NC_000011.10:7043319:G:T Identity +NM_018130.3:c.401G>A NP_060600.2:p.Cys134Tyr NC_000003.12:72841129:C:T p.(Cys134Tyr) NC_000003.12:72841129:C:T p.(Cys134Tyr) NC_000003.12:72841129:C:T Identity +NM_001165412.2:c.1466C>T NP_001158884.1:p.Thr489Ile NC_000004.12:102596305:C:T p.(Thr489Ile) NC_000004.12:102596305:C:T p.(Thr489Ile) NC_000004.12:102596305:C:T Identity +NM_033395.2:c.4739G>A NP_203753.1:p.Arg1580His NC_000011.10:93699650:G:A p.(Arg1580His) NC_000011.10:93699650:G:A p.(Arg1580His) NC_000011.10:93699650:G:A Identity +NM_148959.4:c.406G>T NP_683762.2:p.Val136Leu NC_000006.12:656538:C:A p.(Val136Leu) NC_000006.12:656538:C:A p.(Val136Leu) NC_000006.12:656538:C:A Identity +NM_001077196.2:c.493G>A NP_001070664.1:p.Asp165Asn NC_000002.12:177728135:C:T p.(Asp165Asn) NC_000002.12:177728135:C:T p.(Asp165Asn) NC_000002.12:177728135:C:T Identity +NM_001113511.2:c.654G>C NP_001106983.1:p.Glu218Asp NC_000013.11:111217800:G:C p.(Glu218Asp) NC_000013.11:111217800:G:C p.(Glu218Asp) NC_000013.11:111217800:G:C Identity +NM_001287491.2:c.1934C>T NP_001274420.1:p.Pro645Leu NC_000002.12:74047850:C:T p.(Pro645Leu) NC_000002.12:74047850:C:T p.(Pro645Leu) NC_000002.12:74047850:C:T Identity +NM_001379245.1:c.5322A>C NP_001366174.1:p.Gln1774His NC_000013.11:35196266:A:C p.(Gln1774His) NC_000013.11:35196266:A:C p.(Gln1774His) NC_000013.11:35196266:A:C Identity +NM_001379245.1:c.5323G>A NP_001366174.1:p.Ala1775Thr NC_000013.11:35196267:G:A p.(Ala1775Thr) NC_000013.11:35196267:G:A p.(Ala1775Thr) NC_000013.11:35196267:G:A Identity +NM_001017403.2:c.1010G>A NP_001017403.1:p.Arg337His NC_000001.11:202304569:G:A p.(Arg337His) NC_000001.11:202304569:G:A p.(Arg337His) NC_000001.11:202304569:G:A Identity +NM_001191057.4:c.1904G>A NP_001177986.1:p.Arg635His NC_000007.14:31775719:C:T p.(Arg635His) NC_000007.14:31775719:C:T p.(Arg635His) NC_000007.14:31775719:C:T Identity +NM_005392.4:c.1345G>A NP_005383.3:p.Val449Ile NC_000009.12:93660206:G:A p.(Val449Ile) NC_000009.12:93660206:G:A p.(Val449Ile) NC_000009.12:93660206:G:A Identity +NM_007184.4:c.2014G>A NP_009115.3:p.Glu672Lys NC_000003.12:52487505:G:A p.(Glu672Lys) NC_000003.12:52487505:G:A p.(Glu672Lys) NC_000003.12:52487505:G:A Identity +NM_152424.4:c.742C>A NP_689637.3:p.Pro248Thr NC_000023.11:64192544:G:T p.(Pro248Thr) NC_000023.11:64192544:G:T p.(Pro248Thr) NC_000023.11:64192544:G:T Identity +NM_002458.3:c.1887C>A NP_002449.2:p.Asn629Lys NC_000011.10:1232492:C:A p.(Asn629Lys) NC_000011.10:1232492:C:A p.(Asn629Lys) NC_000011.10:1232492:C:A Identity +NM_153676.4:c.1868C>A NP_710142.1:p.Pro623His NC_000011.10:17509500:G:T p.(Pro623His) NC_000011.10:17509500:G:T p.(Pro623His) NC_000011.10:17509500:G:T Identity +NM_001080414.4:c.6043G>A NP_001073883.2:p.Gly2015Ser NC_000014.9:91272668:C:T p.(Gly2015Ser) NC_000014.9:91272668:C:T p.(Gly2015Ser) NC_000014.9:91272668:C:T Identity +NM_001288951.2:c.556C>T NP_001275880.1:p.Arg186Cys NC_000002.12:46975010:C:T p.(Arg186Cys) NC_000002.12:46975010:C:T p.(Arg186Cys) NC_000002.12:46975010:C:T Identity +NM_000085.5:c.1570G>A NP_000076.2:p.Val524Ile NC_000001.11:16052358:G:A p.(Val524Ile) NC_000001.11:16052358:G:A p.(Val524Ile) NC_000001.11:16052358:G:A Identity +NM_014510.3:c.1670C>T NP_055325.2:p.Pro557Leu NC_000007.14:83154970:G:A p.(Pro557Leu) NC_000007.14:83154970:G:A p.(Pro557Leu) NC_000007.14:83154970:G:A Identity +NM_001185099.2:c.1387G>A NP_001172028.1:p.Gly463Arg NC_000019.10:35341485:G:A p.(Gly463Arg) NC_000019.10:35341485:G:A p.(Gly463Arg) NC_000019.10:35341485:G:A Identity +NM_001005407.2:c.2216G>A NP_001005407.1:p.Arg739His NC_000016.10:1204222:G:A p.(Arg739His) NC_000016.10:1204222:G:A p.(Arg739His) NC_000016.10:1204222:G:A Identity +NM_001145265.2:c.91G>A NP_001138737.1:p.Val31Met NC_000011.10:45805930:G:A p.(Val31Met) NC_000011.10:45805930:G:A p.(Val31Met) NC_000011.10:45805930:G:A Identity +NM_000356.4:c.1130C>T NP_000347.2:p.Ala377Val NC_000005.10:150375035:C:T p.(Ala377Val) NC_000005.10:150375035:C:T p.(Ala377Val) NC_000005.10:150375035:C:T Identity +NM_000246.4:c.460G>A NP_000237.2:p.Asp154Asn NC_000016.10:10901536:G:A p.(Asp154Asn) NC_000016.10:10901536:G:A p.(Asp154Asn) NC_000016.10:10901536:G:A Identity +NM_005363.5:c.421G>A NP_005354.1:p.Gly141Arg NC_000023.11:152767229:C:T p.(Gly141Arg) NC_000023.11:152767229:C:T p.(Gly141Arg) NC_000023.11:152767229:C:T Identity +NM_001042473.4:c.317G>A NP_001035938.1:p.Arg106His NC_000010.11:27223405:C:T p.(Arg106His) NC_000010.11:27223405:C:T p.(Arg106His) NC_000010.11:27223405:C:T Identity +NM_000835.6:c.1468G>A NP_000826.2:p.Val490Ile NC_000017.11:74850228:C:T p.(Val490Ile) NC_000017.11:74850228:C:T p.(Val490Ile) NC_000017.11:74850228:C:T Identity +NM_001286563.3:c.837T>A NP_001273492.1:p.Asp279Glu NC_000011.10:123605399:T:A p.(Asp279Glu) NC_000011.10:123605399:T:A p.(Asp279Glu) NC_000011.10:123605399:T:A Identity +NM_001242875.3:c.1667G>C NP_001229804.1:p.Ser556Thr NC_000018.10:36158841:G:C p.(Ser556Thr) NC_000018.10:36158841:G:C p.(Ser556Thr) NC_000018.10:36158841:G:C Identity +NM_001048218.2:c.2107C>T NP_001041683.1:p.Arg703Trp NC_000011.10:65538092:C:T p.(Arg703Trp) NC_000011.10:65538092:C:T p.(Arg703Trp) NC_000011.10:65538092:C:T Identity +NM_153610.5:c.103G>A NP_705838.3:p.Glu35Lys NC_000005.10:79690009:G:A p.(Glu35Lys) NC_000005.10:79690009:G:A p.(Glu35Lys) NC_000005.10:79690009:G:A Identity +NM_001454.4:c.901G>T NP_001445.2:p.Glu301Ter NC_000017.11:76137717:C:A p.(Glu301Ter) NC_000017.11:76137717:C:A p.(Glu301Ter) NC_000017.11:76137717:C:A Identity +NM_019090.3:c.1310C>T NP_061963.3:p.Ser437Phe NC_000001.11:232806758:C:T p.(Ser437Phe) NC_000001.11:232806758:C:T p.(Ser437Phe) NC_000001.11:232806758:C:T Identity +NM_001199207.2:c.721C>T NP_001186136.1:p.Arg241Trp NC_000007.14:74519427:C:T p.(Arg241Trp) NC_000007.14:74519427:C:T p.(Arg241Trp) NC_000007.14:74519427:C:T Identity +NM_138295.5:c.6170G>A NP_612152.1:p.Arg2057His NC_000007.14:47834342:C:T p.(Arg2057His) NC_000007.14:47834342:C:T p.(Arg2057His) NC_000007.14:47834342:C:T Identity +NM_004813.4:c.635C>G NP_004804.2:p.Pro212Arg NC_000011.10:45914374:G:C p.(Pro212Arg) NC_000011.10:45914374:G:C p.(Pro212Arg) NC_000011.10:45914374:G:C Identity +NM_000312.4:c.300G>A NP_000303.1:p.Pro100= NC_000002.12:127423070:G:A p.(Pro100=) NC_000002.12:127423070:G:A p.(Pro100=) NC_000002.12:127423070:G:A Identity +NM_001003937.3:c.2T>C NP_001003937.2:p.Met1Thr NC_000002.12:54256149:A:G p.(Met1Thr) NC_000002.12:54256149:A:G p.Met1? NC_000002.12:54256149:A:G Identity +NM_000204.5:c.548A>G NP_000195.3:p.His183Arg NC_000004.12:109761626:T:C p.(His183Arg) NC_000004.12:109761626:T:C p.(His183Arg) NC_000004.12:109761626:T:C Identity +NM_001197104.2:c.9904G>A NP_001184033.1:p.Ala3302Thr NC_000011.10:118505795:G:A p.(Ala3302Thr) NC_000011.10:118505795:G:A p.(Ala3302Thr) NC_000011.10:118505795:G:A Identity +NM_000435.3:c.283A>C NP_000426.2:p.Ser95Arg NC_000019.10:15192433:T:G p.(Ser95Arg) NC_000019.10:15192433:T:G p.(Ser95Arg) NC_000019.10:15192433:T:G Identity +NM_001127708.3:c.3016_3017del NP_001121180.2:p.Lys1006fs NC_000001.11:186308856:AAA:A p.(Lys1006AspfsTer33) NC_000001.11:186308856:AAA:A p.(Lys1006AspfsTer33) NC_000001.11:186308857:AA: Analogous +NM_000059.4:c.3665C>G NP_000050.3:p.Ala1222Gly NC_000013.11:32338019:C:G p.(Ala1222Gly) NC_000013.11:32338019:C:G p.(Ala1222Gly) NC_000013.11:32338019:C:G Identity +NM_001029939.4:c.1979G>A NP_001025110.2:p.Arg660Lys NC_000008.11:134601703:C:T p.(Arg660Lys) NC_000008.11:134601703:C:T p.(Arg660Lys) NC_000008.11:134601703:C:T Identity +NM_005560.6:c.7118G>A NP_005551.3:p.Arg2373Gln NC_000020.11:62318574:C:T p.(Arg2373Gln) NC_000020.11:62318574:C:T p.(Arg2373Gln) NC_000020.11:62318574:C:T Identity +NM_025179.4:c.137G>A NP_079455.3:p.Arg46His NC_000001.11:208217785:C:T p.(Arg46His) NC_000001.11:208217785:C:T p.(Arg46His) NC_000001.11:208217785:C:T Identity +NM_001080541.3:c.3733G>C NP_001074010.2:p.Glu1245Gln NC_000015.10:41729238:G:C p.(Glu1245Gln) NC_000015.10:41729238:G:C p.(Glu1245Gln) NC_000015.10:41729238:G:C Identity +NM_007254.4:c.1541_1548dup NP_009185.2:p.Gln517fs NC_000019.10:49861265:GCAGTACAGC:GCAGTACAGCAGTACAGC p.(Gln517CysfsTer?) NC_000019.10:49861265:GCAGTACAGC:GCAGTACAGCAGTACAGC p.(Gln517CysfsTer?) ERR:SPDI Analogous +NM_000350.3:c.6007A>T NP_000341.2:p.Ile2003Phe NC_000001.11:94005580:T:A p.(Ile2003Phe) NC_000001.11:94005580:T:A p.(Ile2003Phe) NC_000001.11:94005580:T:A Identity +NM_052905.4:c.328C>G NP_443137.2:p.Leu110Val NC_000002.12:152549065:C:G p.(Leu110Val) NC_000002.12:152549065:C:G p.(Leu110Val) NC_000002.12:152549065:C:G Identity +NM_001085411.3:c.438A>C NP_001078880.1:p.Glu146Asp NC_000005.10:36226514:T:G p.(Glu146Asp) NC_000005.10:36226514:T:G p.(Glu146Asp) NC_000005.10:36226514:T:G Identity +NM_001368887.2:c.365C>G NP_001355816.1:p.Ser122Ter NC_000011.10:31800848:G:C p.(Ser122Ter) NC_000011.10:31800848:G:C p.(Ser122Ter) NC_000011.10:31800848:G:C Identity +NM_001110556.2:c.6479G>A NP_001104026.1:p.Cys2160Tyr NC_000023.11:154352575:C:T p.(Cys2160Tyr) NC_000023.11:154352575:C:T p.(Cys2160Tyr) NC_000023.11:154352575:C:T Identity +NM_206933.4:c.12712T>C NP_996816.3:p.Tyr4238His NC_000001.11:215675198:A:G p.(Tyr4238His) NC_000001.11:215675198:A:G p.(Tyr4238His) NC_000001.11:215675198:A:G Identity +NM_033109.5:c.526G>A NP_149100.2:p.Ala176Thr NC_000002.12:55680750:C:T p.(Ala176Thr) NC_000002.12:55680750:C:T p.(Ala176Thr) NC_000002.12:55680750:C:T Identity +NM_001165963.4:c.4539dup NP_001159435.1:p.Leu1514fs NC_000002.12:165996054:TTTTTT:TTTTTTT p.(Leu1514IlefsTer23) NC_000002.12:165996054:TTTTTT:TTTTTTT p.(Leu1514IlefsTer23) ERR:SPDI Analogous +NM_001165963.4:c.3531_3534dup NP_001159435.1:p.Ala1179fs NC_000002.12:166015622:TTCT:TTCTTTCT p.(Ala1179ArgfsTer6) NC_000002.12:166015622:TTCT:TTCTTTCT p.(Ala1179ArgfsTer6) ERR:SPDI Analogous +NM_001122633.3:c.2548C>G NP_001116105.2:p.Arg850Gly NC_000002.12:210612272:C:G p.(Arg850Gly) NC_000002.12:210612272:C:G p.(Arg850Gly) NC_000002.12:210612272:C:G Identity +NM_001177984.3:c.3384C>A NP_001171455.1:p.Asp1128Glu NC_000012.12:51769878:C:A p.(Asp1128Glu) NC_000012.12:51769878:C:A p.(Asp1128Glu) NC_000012.12:51769878:C:A Identity +NM_006121.4:c.651G>C NP_006112.3:p.Gln217His NC_000012.12:52678696:C:G p.(Gln217His) NC_000012.12:52678696:C:G p.(Gln217His) NC_000012.12:52678696:C:G Identity +NM_001113491.2:c.148C>G NP_001106963.1:p.Pro50Ala NC_000017.11:77402129:C:G p.(Pro50Ala) NC_000017.11:77402129:C:G p.(Pro50Ala) NC_000017.11:77402129:C:G Identity +NM_000806.5:c.1268C>T NP_000797.2:p.Ser423Leu NC_000005.10:161897318:C:T p.(Ser423Leu) NC_000005.10:161897318:C:T p.(Ser423Leu) NC_000005.10:161897318:C:T Identity +NM_000493.4:c.1771T>G NP_000484.2:p.Cys591Gly NC_000006.12:116120344:A:C p.(Cys591Gly) NC_000006.12:116120344:A:C p.(Cys591Gly) NC_000006.12:116120344:A:C Identity +NM_001145661.2:c.831del NP_001139133.1:p.Phe278fs NC_000003.12:128485766:G: p.(Phe278SerfsTer48) NC_000003.12:128485766:G: p.(Phe278SerfsTer48) NC_000003.12:128485766:G: Analogous +NM_001384732.1:c.3104G>C NP_001371661.1:p.Gly1035Ala NC_000005.10:37206241:C:G p.(Gly1035Ala) NC_000005.10:37206241:C:G p.(Gly1035Ala) NC_000005.10:37206241:C:G Identity +NM_000038.6:c.5222T>G NP_000029.2:p.Phe1741Cys NC_000005.10:112840815:T:G p.(Phe1741Cys) NC_000005.10:112840815:T:G p.(Phe1741Cys) NC_000005.10:112840815:T:G Identity +NM_005359.6:c.823C>G NP_005350.1:p.Pro275Ala NC_000018.10:51058374:C:G p.(Pro275Ala) NC_000018.10:51058374:C:G p.(Pro275Ala) NC_000018.10:51058374:C:G Identity +NM_001354609.2:c.644C>T NP_001341538.1:p.Ser215Phe NC_000007.14:140808026:G:A p.(Ser215Phe) NC_000007.14:140808026:G:A p.(Ser215Phe) NC_000007.14:140808026:G:A Identity +NM_017780.4:c.5914dup NP_060250.2:p.Ala1972fs NC_000008.11:60852515:GG:GGG p.(Ala1972GlyfsTer2) NC_000008.11:60852515:GG:GGG p.(Ala1972GlyfsTer2) ERR:SPDI Analogous +NM_000136.3:c.1065C>A NP_000127.2:p.Asp355Glu NC_000009.12:95117321:G:T p.(Asp355Glu) NC_000009.12:95117321:G:T p.(Asp355Glu) NC_000009.12:95117321:G:T Identity +NM_139125.4:c.1927G>A NP_624302.1:p.Val643Ile NC_000003.12:187235943:C:T p.(Val643Ile) NC_000003.12:187235943:C:T p.(Val643Ile) NC_000003.12:187235943:C:T Identity +NM_001304482.2:c.634T>G NP_001291411.1:p.Leu212Val NC_000003.12:47407704:T:G p.(Leu212Val) NC_000003.12:47407704:T:G p.(Leu212Val) NC_000003.12:47407704:T:G Identity +NM_002907.4:c.1817G>T NP_002898.2:p.Cys606Phe NC_000012.12:21470326:C:A p.(Cys606Phe) NC_000012.12:21470326:C:A p.(Cys606Phe) NC_000012.12:21470326:C:A Identity +NM_001111.5:c.638del NP_001102.3:p.Pro213fs NC_000001.11:154602003:GG:G p.(Pro213GlnfsTer48) NC_000001.11:154602003:GG:G p.(Pro213GlnfsTer48) NC_000001.11:154602003:G: Analogous +NM_001256182.2:c.6085G>A NP_001243111.1:p.Val2029Ile NC_000016.10:89280456:C:T p.(Val2029Ile) NC_000016.10:89280456:C:T p.(Val2029Ile) NC_000016.10:89280456:C:T Identity +NM_001776.6:c.770_771del NP_001767.3:p.Gly257fs NC_000010.11:95845551:GGG:G p.(Gly257GlufsTer18) NC_000010.11:95845551:GGG:G p.(Gly257GlufsTer18) NC_000010.11:95845552:GG: Analogous +NM_001243251.2:c.572G>A NP_001230180.1:p.Arg191His NC_000011.10:78443669:C:T p.(Arg191His) NC_000011.10:78443669:C:T p.(Arg191His) NC_000011.10:78443669:C:T Identity +NM_000051.4:c.1243A>T NP_000042.3:p.Ile415Phe NC_000011.10:108250707:A:T p.(Ile415Phe) NC_000011.10:108250707:A:T p.(Ile415Phe) NC_000011.10:108250707:A:T Identity +NM_001077350.3:c.301C>T NP_001070818.1:p.Gln101Ter NC_000016.10:119142:G:A p.(Gln101Ter) NC_000016.10:119142:G:A p.(Gln101Ter) NC_000016.10:119142:G:A Identity +NM_032444.4:c.4391_4403del NP_115820.2:p.Ser1464fs NC_000016.10:3589234:CGACAGTCACGGC: p.(Ser1464ThrfsTer39) NC_000016.10:3589234:CGACAGTCACGGC: p.(Ser1464ThrfsTer39) NC_000016.10:3589234:CGACAGTCACGGC: Analogous +NM_001288653.2:c.3398T>G NP_001275582.1:p.Ile1133Ser NC_000017.11:59681782:T:G p.(Ile1133Ser) NC_000017.11:59681782:T:G p.(Ile1133Ser) NC_000017.11:59681782:T:G Identity +NM_001378454.1:c.2326C>T NP_001365383.1:p.Gln776Ter NC_000002.12:73448852:C:T p.(Gln776Ter) NC_000002.12:73448852:C:T p.(Gln776Ter) NC_000002.12:73448852:C:T Identity +NM_001363734.1:c.1243_1244dup NP_001350663.1:p.Glu416fs NC_000020.11:32433623:CT:CTCT p.(Glu416TrpfsTer227) NC_000020.11:32433623:CT:CTCT p.(Glu416TrpfsTer227) ERR:SPDI Analogous +NM_001037343.2:c.1742dup NP_001032420.1:p.His581fs NC_000023.11:18604665:A:AA p.(His581GlnfsTer30) NC_000023.11:18604665:A:AA p.(His581GlnfsTer30) ERR:SPDI Analogous +NM_000028.3:c.921delC NP_000019.2:p.Asn307Lysfs NC_000001.11:99870831:C: p.(Asn307LysfsTer18) NC_000001.11:99870831:C: p.(Asn307LysfsTer18) NC_000001.11:99870831:C: Analogous +NM_001329630.2:c.2077G>A NP_001316559.1:p.Val693Ile NC_000011.10:16803051:C:T p.(Val693Ile) NC_000011.10:16803051:C:T p.(Val693Ile) NC_000011.10:16803051:C:T Identity +NM_001193307.2:c.257C>T NP_001180236.1:p.Ser86Phe NC_000007.14:93105840:G:A p.(Ser86Phe) NC_000007.14:93105840:G:A p.(Ser86Phe) NC_000007.14:93105840:G:A Identity +NM_001352017.2:c.700C>T NP_001338946.1:p.Arg234Trp NC_000016.10:869947:G:A p.(Arg234Trp) NC_000016.10:869947:G:A p.(Arg234Trp) NC_000016.10:869947:G:A Identity +NM_001368928.2:c.66_75del NP_001355857.1:p.Asp23fs NC_000011.10:31802769:GGTGGAGTCCGG:GG p.(Asp23GlyfsTer5) NC_000011.10:31802769:GGTGGAGTCCGG:GG p.(Asp23GlyfsTer5) NC_000011.10:31802769:GGTGGAGTCC: Analogous +NM_000280.3:c.1252_1261delTGGCCAAGAT NP_000271.1:p.Trp418Tyrfs NC_000011.10:31789940:AATCTTGGCCA:A ERR:Data provider error: ValueError: Transcript NM_000280.3 not found ERR:Data provider error: ValueError: Transcript NM_000280.3 not found ERR:AlignmentMapper(tx_ac=NM_000280.3, alt_ac=NM_000280.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000280.3, alt_ac=NM_000280.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000280.3 not found +NM_000098.3:c.416C>T NP_000089.1:p.Pro139Leu NC_000001.11:53210089:C:T p.(Pro139Leu) NC_000001.11:53210089:C:T p.(Pro139Leu) NC_000001.11:53210089:C:T Identity +NM_001012727.2:c.335del NP_001012745.1:p.Pro112fs NC_000009.12:136677117:GG:G p.(Pro112ArgfsTer39) NC_000009.12:136677117:GG:G p.(Pro112ArgfsTer39) NC_000009.12:136677117:G: Analogous +NM_001069.3:c.1178C>T NP_001060.1:p.Ala393Val NC_000006.12:3154022:G:A p.(Ala393Val) NC_000006.12:3154022:G:A p.(Ala393Val) NC_000006.12:3154022:G:A Identity +NM_001354663.2:c.754T>G NP_001341592.1:p.Cys252Gly NC_000003.12:193643031:T:G p.(Cys252Gly) NC_000003.12:193643031:T:G p.(Cys252Gly) NC_000003.12:193643031:T:G Identity +NM_000255.4:c.1315T>G NP_000246.2:p.Tyr439Asp NC_000006.12:49451482:A:C p.(Tyr439Asp) NC_000006.12:49451482:A:C p.(Tyr439Asp) NC_000006.12:49451482:A:C Identity +NM_001099400.2:c.793C>T NP_001092870.1:p.Gln265Ter NC_000007.14:94603321:G:A p.(Gln265Ter) NC_000007.14:94603321:G:A p.(Gln265Ter) NC_000007.14:94603321:G:A Identity +NM_001005373.4:c.1037_1040del NP_001005373.1:p.Asn346fs NC_000009.12:127479969:CAATCA:CA p.(Asn346ArgfsTer10) NC_000009.12:127479969:CAATCA:CA p.(Asn346ArgfsTer10) NC_000009.12:127479971:ATCA: Analogous +NM_001305275.2:c.1534G>A NP_001292204.1:p.Ala512Thr NC_000001.11:1043387:G:A p.(Ala512Thr) NC_000001.11:1043387:G:A p.(Ala512Thr) NC_000001.11:1043387:G:A Identity +NM_001127660.2:c.373G>A NP_001121132.1:p.Gly125Arg NC_000001.11:11996216:G:A p.(Gly125Arg) NC_000001.11:11996216:G:A p.(Gly125Arg) NC_000001.11:11996216:G:A Identity +NM_000448.3:c.360_367del NP_000439.2:p.Asp121fs NC_000011.10:36573659:GAGCTGATGAGC:GAGC p.(Asp121GlnfsTer13) NC_000011.10:36573659:GAGCTGATGAGC:GAGC p.(Asp121GlnfsTer13) NC_000011.10:36573663:TGATGAGC: Analogous +NM_000834.5:c.2081A>G NP_000825.2:p.Asn694Ser NC_000012.12:13571893:T:C p.(Asn694Ser) NC_000012.12:13571893:T:C p.(Asn694Ser) NC_000012.12:13571893:T:C Identity +NM_000138.5:c.4048T>G NP_000129.3:p.Cys1350Gly NC_000015.10:48474566:A:C p.(Cys1350Gly) NC_000015.10:48474566:A:C p.(Cys1350Gly) NC_000015.10:48474566:A:C Identity +NM_000162.5:c.1123T>C NP_000153.1:p.Ser375Pro NC_000007.14:44145626:A:G p.(Ser375Pro) NC_000007.14:44145626:A:G p.(Ser375Pro) NC_000007.14:44145626:A:G Identity +NM_004518.6:c.1957G>A NP_004509.2:p.Asp653Asn NC_000020.11:63407221:C:T p.(Asp653Asn) NC_000020.11:63407221:C:T p.(Asp653Asn) NC_000020.11:63407221:C:T Identity +NM_001114636.2:c.793G>C NP_001108108.1:p.Val265Leu NC_000002.12:58163071:C:G p.(Val265Leu) NC_000002.12:58163071:C:G p.(Val265Leu) NC_000002.12:58163071:C:G Identity +NM_001145026.2:c.2489T>C NP_001138498.1:p.Val830Ala NC_000012.12:80506601:T:C p.(Val830Ala) NC_000012.12:80506601:T:C p.(Val830Ala) NC_000012.12:80506601:T:C Identity +NM_005859.5:c.449_456del NP_005850.1:p.Arg150fs NC_000005.10:140114628:CGCGAGAAC:C p.(Arg150ProfsTer48) NC_000005.10:140114628:CGCGAGAAC:C p.(Arg150ProfsTer48) NC_000005.10:140114629:GCGAGAAC: Analogous +NM_001122955.4:c.419C>G NP_001116427.1:p.Ser140Cys NC_000011.10:62702534:G:C p.(Ser140Cys) NC_000011.10:62702534:G:C p.(Ser140Cys) NC_000011.10:62702534:G:C Identity +NM_015180.6:c.14801A>G NP_055995.4:p.His4934Arg NC_000014.9:64137940:A:G p.(His4934Arg) NC_000014.9:64137940:A:G p.(His4934Arg) NC_000014.9:64137940:A:G Identity +NM_000109.4:c.8254C>T NP_000100.3:p.Gln2752Ter NC_000023.11:31507392:G:A p.(Gln2752Ter) NC_000023.11:31507392:G:A p.(Gln2752Ter) NC_000023.11:31507392:G:A Identity +NM_000245.4:c.410A>G NP_000236.2:p.Asn137Ser NC_000007.14:116699493:A:G p.(Asn137Ser) NC_000007.14:116699493:A:G p.(Asn137Ser) NC_000007.14:116699493:A:G Identity +NM_001354609.2:c.1750C>T NP_001341538.1:p.Leu584Phe NC_000007.14:140753384:G:A p.(Leu584Phe) NC_000007.14:140753384:G:A p.(Leu584Phe) NC_000007.14:140753384:G:A Identity +NM_001378496.1:c.5G>C NP_001365425.1:p.Arg2Thr NC_000009.12:33167164:C:G p.(Arg2Thr) NC_000009.12:33167164:C:G p.(Arg2Thr) NC_000009.12:33167164:C:G Identity +NM_018682.4:c.167del NP_061152.3:p.Tyr56fs NC_000007.14:105062258:A: p.(Tyr56SerfsTer34) NC_000007.14:105062258:A: p.(Tyr56SerfsTer34) NC_000007.14:105062258:A: Analogous +NM_001110792.2:c.553C>A NP_001104262.1:p.Pro185Thr NC_000023.11:154031310:G:T p.(Pro185Thr) NC_000023.11:154031310:G:T p.(Pro185Thr) NC_000023.11:154031310:G:T Identity +NM_001134335.2:c.1339A>G NP_001127807.1:p.Ile447Val NC_000007.14:6029022:T:C p.(Ile447Val) NC_000007.14:6029022:T:C p.(Ile447Val) NC_000007.14:6029022:T:C Identity +NM_017825.3:c.169_170del NP_060295.1:p.Leu58fs NC_000001.11:36089070:AGAG:AG p.(Leu58GlyfsTer10) NC_000001.11:36089070:AGAG:AG p.(Leu58GlyfsTer10) NC_000001.11:36089072:AG: Analogous +NM_001083116.3:c.160C>T NP_001076585.1:p.Arg54Cys NC_000010.11:70600742:G:A p.(Arg54Cys) NC_000010.11:70600742:G:A p.(Arg54Cys) NC_000010.11:70600742:G:A Identity +NM_001166102.2:c.1180dup NP_001159574.1:p.Asp394fs NC_000011.10:67612158:GGGGGG:GGGGGGG p.(Asp394GlyfsTer27) NC_000011.10:67612158:GGGGGG:GGGGGGG p.(Asp394GlyfsTer27) ERR:SPDI Analogous +NM_001330343.2:c.417G>T NP_001317272.1:p.Met139Ile NC_000012.12:8605224:C:A p.(Met139Ile) NC_000012.12:8605224:C:A p.(Met139Ile) NC_000012.12:8605224:C:A Identity +NM_000388.4:c.1913dup NP_000379.3:p.Asn639fs NC_000003.12:122283866:G:GG p.(Asn639GlnfsTer69) NC_000003.12:122283866:G:GG p.(Asn639GlnfsTer69) ERR:SPDI Analogous +NM_022124.6:c.5476C>T NP_071407.4:p.Arg1826Trp NC_000010.11:71784393:C:T p.(Arg1826Trp) NC_000010.11:71784393:C:T p.(Arg1826Trp) NC_000010.11:71784393:C:T Identity +NM_000085.5:c.1325A>G NP_000076.2:p.Glu442Gly NC_000001.11:16051736:A:G p.(Glu442Gly) NC_000001.11:16051736:A:G p.(Glu442Gly) NC_000001.11:16051736:A:G Identity +NM_000500.9:c.60G>A NP_000491.4:p.Trp20Ter NC_000006.12:32038481:G:A p.(Trp20Ter) NC_000006.12:32038481:G:A p.(Trp20Ter) NC_000006.12:32038481:G:A Identity +NM_001330345.2:c.528C>A NP_001317274.1:p.Asp176Glu NC_000011.10:94380766:G:T p.(Asp176Glu) NC_000011.10:94380766:G:T p.(Asp176Glu) NC_000011.10:94380766:G:T Identity +NM_000530.8:c.254G>C NP_000521.2:p.Gly85Ala NC_000001.11:161306901:C:G p.(Gly85Ala) NC_000001.11:161306901:C:G p.(Gly85Ala) NC_000001.11:161306901:C:G Identity +NM_006946.4:c.5991_5992del NP_008877.2:p.Glu1997fs NC_000011.10:66689137:TCTC:TC p.(Glu1997AspfsTer3) NC_000011.10:66689137:TCTC:TC p.(Glu1997AspfsTer3) NC_000011.10:66689137:TC: Analogous +NM_003482.4:c.3238G>C NP_003473.3:p.Glu1080Gln NC_000012.12:49050349:C:G p.(Glu1080Gln) NC_000012.12:49050349:C:G p.(Glu1080Gln) NC_000012.12:49050349:C:G Identity +NM_015560.3:c.112C>T NP_056375.2:p.Arg38Ter NC_000003.12:193614801:C:T p.(Arg38Ter) NC_000003.12:193614801:C:T p.(Arg38Ter) NC_000003.12:193614801:C:T Identity +NM_001097577.3:c.94C>T NP_001091046.1:p.His32Tyr NC_000014.9:20693657:C:T p.(His32Tyr) NC_000014.9:20693657:C:T p.(His32Tyr) NC_000014.9:20693657:C:T Identity +NM_000135.4:c.236_239del NP_000126.2:p.Asp79fs NC_000016.10:89814563:CAGTCA:CA p.(Asp79ValfsTer15) NC_000016.10:89814563:CAGTCA:CA p.(Asp79ValfsTer15) NC_000016.10:89814563:CAGT: Analogous +NM_001190918.2:c.425G>T NP_001177847.1:p.Arg142Leu NC_000017.11:40084663:G:T p.(Arg142Leu) NC_000017.11:40084663:G:T p.(Arg142Leu) NC_000017.11:40084663:G:T Identity +NM_000151.4:c.526C>T NP_000142.2:p.His176Tyr NC_000017.11:42909381:C:T p.(His176Tyr) NC_000017.11:42909381:C:T p.(His176Tyr) NC_000017.11:42909381:C:T Identity +NM_001378609.3:c.2986G>A NP_001365538.2:p.Asp996Asn NC_000012.12:80296883:G:A p.(Asp996Asn) NC_000012.12:80296883:G:A p.(Asp996Asn) NC_000012.12:80296883:G:A Identity +NM_000814.6:c.860C>A NP_000805.1:p.Thr287Lys NC_000015.10:26561151:G:T p.(Thr287Lys) NC_000015.10:26561151:G:T p.(Thr287Lys) NC_000015.10:26561151:G:T Identity +NM_000070.3:c.859A>C NP_000061.1:p.Ile287Leu NC_000015.10:42390009:A:C p.(Ile287Leu) NC_000015.10:42390009:A:C p.(Ile287Leu) NC_000015.10:42390009:A:C Identity +NM_001363734.1:c.3277G>A NP_001350663.1:p.Gly1093Ser NC_000020.11:32436171:G:A p.(Gly1093Ser) NC_000020.11:32436171:G:A p.(Gly1093Ser) NC_000020.11:32436171:G:A Identity +NM_000444.6:c.101del NP_000435.3:p.Gly34fs NC_000023.11:22033103:GGG:GG p.(Gly34AlafsTer6) NC_000023.11:22033103:GGG:GG p.(Gly34AlafsTer6) NC_000023.11:22033105:G: Analogous +NM_000444.6:c.2236T>C NP_000435.3:p.Cys746Arg NC_000023.11:22247938:T:C p.(Cys746Arg) NC_000023.11:22247938:T:C p.(Cys746Arg) NC_000023.11:22247938:T:C Identity +NM_000109.4:c.8722del NP_000100.3:p.Glu2908fs NC_000023.11:31478296:CCC:CC p.(Glu2908LysfsTer3) NC_000023.11:31478296:CCC:CC p.(Glu2908LysfsTer3) NC_000023.11:31478296:C: Analogous +NM_001351527.2:c.3601A>T NP_001338456.1:p.Ile1201Phe NC_000009.12:132327996:T:A p.(Ile1201Phe) NC_000009.12:132327996:T:A p.(Ile1201Phe) NC_000009.12:132327996:T:A Identity +NM_001254734.2:c.621C>A NP_001241663.1:p.Asp207Glu NC_000020.11:2397994:C:A p.(Asp207Glu) NC_000020.11:2397994:C:A p.(Asp207Glu) NC_000020.11:2397994:C:A Identity +NM_004463.3:c.386G>A NP_004454.2:p.Gly129Asp NC_000023.11:54471408:C:T p.(Gly129Asp) NC_000023.11:54471408:C:T p.(Gly129Asp) NC_000023.11:54471408:C:T Identity +NM_001281295.2:c.148T>C NP_001268224.1:p.Ser50Pro NC_000002.12:74640127:A:G p.(Ser50Pro) NC_000002.12:74640127:A:G p.(Ser50Pro) NC_000002.12:74640127:A:G Identity +NM_003803.4:c.3260G>A NP_003794.3:p.Trp1087Ter NC_000018.10:3116373:C:T p.(Trp1087Ter) NC_000018.10:3116373:C:T p.(Trp1087Ter) NC_000018.10:3116373:C:T Identity +NM_006516.4:c.410_411del NP_006507.2:p.Thr137fs NC_000001.11:42930730:TGTG:TG p.(Thr137ArgfsTer9) NC_000001.11:42930730:TGTG:TG p.(Thr137ArgfsTer9) NC_000001.11:42930730:TG: Analogous +NM_006623.4:c.1492T>C NP_006614.2:p.Ser498Pro NC_000001.11:119743929:T:C p.(Ser498Pro) NC_000001.11:119743929:T:C p.(Ser498Pro) NC_000001.11:119743929:T:C Identity +NM_001364858.1:c.1547A>C NP_001351787.1:p.Glu516Ala NC_000007.14:4790748:A:C p.(Glu516Ala) NC_000007.14:4790748:A:C p.(Glu516Ala) NC_000007.14:4790748:A:C Identity +NM_002775.5:c.884G>A NP_002766.1:p.Gly295Glu NC_000010.11:122506796:G:A p.(Gly295Glu) NC_000010.11:122506796:G:A p.(Gly295Glu) NC_000010.11:122506796:G:A Identity +NM_000388.4:c.1664T>C NP_000379.3:p.Ile555Thr NC_000003.12:122282167:T:C p.(Ile555Thr) NC_000003.12:122282167:T:C p.(Ile555Thr) NC_000003.12:122282167:T:C Identity +NM_000081.4:c.9958C>T NP_000072.2:p.Arg3320Trp NC_000001.11:235709275:G:A p.(Arg3320Trp) NC_000001.11:235709275:G:A p.(Arg3320Trp) NC_000001.11:235709275:G:A Identity +NM_006393.3:c.1640G>A NP_006384.1:p.Arg547Gln NC_000010.11:20831226:C:T p.(Arg547Gln) NC_000010.11:20831226:C:T p.(Arg547Gln) NC_000010.11:20831226:C:T Identity +NM_000260.4:c.5291A>G NP_000251.3:p.Glu1764Gly NC_000011.10:77203181:A:G p.(Glu1764Gly) NC_000011.10:77203181:A:G p.(Glu1764Gly) NC_000011.10:77203181:A:G Identity +NM_001145770.3:c.1781G>A NP_001139242.1:p.Arg594His NC_000016.10:57661812:G:A p.(Arg594His) NC_000016.10:57661812:G:A p.(Arg594His) NC_000016.10:57661812:G:A Identity +NM_003482.4:c.8789C>T NP_003473.3:p.Pro2930Leu NC_000012.12:49038566:G:A p.(Pro2930Leu) NC_000012.12:49038566:G:A p.(Pro2930Leu) NC_000012.12:49038566:G:A Identity +NM_005188.4:c.1804G>T NP_005179.2:p.Ala602Ser NC_000011.10:119285428:G:T p.(Ala602Ser) NC_000011.10:119285428:G:T p.(Ala602Ser) NC_000011.10:119285428:G:T Identity +NM_001184985.2:c.6106G>A NP_001171914.1:p.Glu2036Lys NC_000012.12:887265:G:A p.(Glu2036Lys) NC_000012.12:887265:G:A p.(Glu2036Lys) NC_000012.12:887265:G:A Identity +NM_000834.5:c.3040C>A NP_000825.2:p.Gln1014Lys NC_000012.12:13564197:G:T p.(Gln1014Lys) NC_000012.12:13564197:G:T p.(Gln1014Lys) NC_000012.12:13564197:G:T Identity +NM_025114.4:c.3338A>C NP_079390.3:p.Lys1113Thr NC_000012.12:88092803:T:G p.(Lys1113Thr) NC_000012.12:88092803:T:G p.(Lys1113Thr) NC_000012.12:88092803:T:G Identity +NM_000296.4:c.11255G>C NP_000287.4:p.Arg3752Pro NC_000016.10:2092490:C:G p.(Arg3752Pro) NC_000016.10:2092490:C:G p.(Arg3752Pro) NC_000016.10:2092490:C:G Identity +NM_001100913.3:c.1577C>T NP_001094383.2:p.Ala526Val NC_000014.9:105382864:C:T p.(Ala526Val) NC_000014.9:105382864:C:T p.(Ala526Val) NC_000014.9:105382864:C:T Identity +NM_004667.6:c.4723G>A NP_004658.3:p.Glu1575Lys NC_000015.10:28230452:C:T p.(Glu1575Lys) NC_000015.10:28230452:C:T p.(Glu1575Lys) NC_000015.10:28230452:C:T Identity +NM_001351527.2:c.6029A>G NP_001338456.1:p.Asn2010Ser NC_000009.12:132295948:T:C p.(Asn2010Ser) NC_000009.12:132295948:T:C p.(Asn2010Ser) NC_000009.12:132295948:T:C Identity +NM_001048166.1:c.653T>G NP_001041631.1:p.Leu218Trp NC_000001.11:47299952:A:C p.(Leu218Trp) NC_000001.11:47299952:A:C p.(Leu218Trp) NC_000001.11:47299952:A:C Identity +NM_002160.4:c.6499G>A NP_002151.2:p.Val2167Ile NC_000009.12:115021263:C:T p.(Val2167Ile) NC_000009.12:115021263:C:T p.(Val2167Ile) NC_000009.12:115021263:C:T Identity +NM_001256850.1:c.98705C>T NP_001243779.1:p.Pro32902Leu NC_000002.12:178532986:G:A p.(Pro32902Leu) NC_000002.12:178532986:G:A p.(Pro32902Leu) NC_000002.12:178532986:G:A Identity +NM_024867.4:c.13del NP_079143.3:p.Leu5fs NC_000005.10:35618008:CC:C p.(Leu5CysfsTer9) NC_000005.10:35618008:CC:C p.(Leu5CysfsTer9) NC_000005.10:35618009:C: Analogous +NM_206933.4:c.7297G>A NP_996816.3:p.Gly2433Arg NC_000001.11:215934618:C:T p.(Gly2433Arg) NC_000001.11:215934618:C:T p.(Gly2433Arg) NC_000001.11:215934618:C:T Identity +NM_001014797.3:c.2840T>C NP_001014797.1:p.Ile947Thr NC_000010.11:76914949:A:G p.(Ile947Thr) NC_000010.11:76914949:A:G p.(Ile947Thr) NC_000010.11:76914949:A:G Identity +NM_000391.4:c.859A>G NP_000382.3:p.Ile287Val NC_000011.10:6616687:T:C p.(Ile287Val) NC_000011.10:6616687:T:C p.(Ile287Val) NC_000011.10:6616687:T:C Identity +NM_001184751.2:c.1007G>A NP_001171680.1:p.Gly336Glu NC_000011.10:46704730:G:A p.(Gly336Glu) NC_000011.10:46704730:G:A p.(Gly336Glu) NC_000011.10:46704730:G:A Identity +NM_032782.5:c.830C>T NP_116171.3:p.Pro277Leu NC_000005.10:157087177:G:A p.(Pro277Leu) NC_000005.10:157087177:G:A p.(Pro277Leu) NC_000005.10:157087177:G:A Identity +NM_001105247.2:c.1223A>G NP_001098717.1:p.Gln408Arg NC_000016.10:31462769:A:G p.(Gln408Arg) NC_000016.10:31462769:A:G p.(Gln408Arg) NC_000016.10:31462769:A:G Identity +NM_007127.3:c.772G>C NP_009058.2:p.Val258Leu NC_000002.12:218429597:G:C p.(Val258Leu) NC_000002.12:218429597:G:C p.(Val258Leu) NC_000002.12:218429597:G:C Identity +NM_001378068.1:c.2044A>G NP_001364997.1:p.Thr682Ala NC_000002.12:189707070:A:G p.(Thr682Ala) NC_000002.12:189707070:A:G p.(Thr682Ala) NC_000002.12:189707070:A:G Identity +NM_001347839.2:c.4061G>A NP_001334768.1:p.Arg1354Lys NC_000012.12:45852183:G:A p.(Arg1354Lys) NC_000012.12:45852183:G:A p.(Arg1354Lys) NC_000012.12:45852183:G:A Identity +NM_001354705.2:c.1918G>C NP_001341634.1:p.Asp640His NC_000012.12:57576364:G:C p.(Asp640His) NC_000012.12:57576364:G:C p.(Asp640His) NC_000012.12:57576364:G:C Identity +NM_001002019.3:c.563A>G NP_001002019.1:p.Asp188Gly NC_000012.12:131941393:A:G p.(Asp188Gly) NC_000012.12:131941393:A:G p.(Asp188Gly) NC_000012.12:131941393:A:G Identity +NM_015368.4:c.465G>C NP_056183.2:p.Lys155Asn NC_000011.10:94178511:G:C p.(Lys155Asn) NC_000011.10:94178511:G:C p.(Lys155Asn) NC_000011.10:94178511:G:C Identity +NM_015362.5:c.641G>A NP_056177.4:p.Gly214Glu NC_000017.11:7258636:G:A p.(Gly214Glu) NC_000017.11:7258636:G:A p.(Gly214Glu) NC_000017.11:7258636:G:A Identity +NM_001370.2:c.7609G>C NP_001361.1:p.Glu2537Gln NC_000002.12:84697658:G:C p.(Glu2537Gln) NC_000002.12:84697658:G:C p.(Glu2537Gln) NC_000002.12:84697658:G:C Identity +NM_001258392.3:c.1475C>G NP_001245321.1:p.Ala492Gly NC_000011.10:72295502:G:C p.(Ala492Gly) NC_000011.10:72295502:G:C p.(Ala492Gly) NC_000011.10:72295502:G:C Identity +NM_005189.3:c.577C>A NP_005180.1:p.Leu193Met NC_000017.11:79784019:C:A p.(Leu193Met) NC_000017.11:79784019:C:A p.(Leu193Met) NC_000017.11:79784019:C:A Identity +NM_001256748.3:c.71C>T NP_001243677.1:p.Pro24Leu NC_000003.12:8635814:G:A p.(Pro24Leu) NC_000003.12:8635814:G:A p.(Pro24Leu) NC_000003.12:8635814:G:A Identity +NM_004104.5:c.5080C>T NP_004095.4:p.Arg1694Cys NC_000017.11:82083992:G:A p.(Arg1694Cys) NC_000017.11:82083992:G:A p.(Arg1694Cys) NC_000017.11:82083992:G:A Identity +NM_001165136.2:c.2861C>A NP_001158608.1:p.Ser954Tyr NC_000004.12:88442359:C:A p.(Ser954Tyr) NC_000004.12:88442359:C:A p.(Ser954Tyr) NC_000004.12:88442359:C:A Identity +NM_001109974.3:c.1742C>T NP_001103444.1:p.Ala581Val NC_000005.10:150650016:C:T p.(Ala581Val) NC_000005.10:150650016:C:T p.(Ala581Val) NC_000005.10:150650016:C:T Identity +NM_001317902.2:c.199A>G NP_001304831.1:p.Ile67Val NC_000008.11:55786375:A:G p.(Ile67Val) NC_000008.11:55786375:A:G p.(Ile67Val) NC_000008.11:55786375:A:G Identity +NM_003489.4:c.2750C>T NP_003480.2:p.Ser917Leu NC_000021.9:14965442:G:A p.(Ser917Leu) NC_000021.9:14965442:G:A p.(Ser917Leu) NC_000021.9:14965442:G:A Identity +NM_001304361.2:c.1691G>A NP_001291290.1:p.Arg564His NC_000002.12:112738874:C:T p.(Arg564His) NC_000002.12:112738874:C:T p.(Arg564His) NC_000002.12:112738874:C:T Identity +NM_001199037.2:c.271G>A NP_001185966.1:p.Asp91Asn NC_000001.11:31424739:G:A p.(Asp91Asn) NC_000001.11:31424739:G:A p.(Asp91Asn) NC_000001.11:31424739:G:A Identity +NM_006264.3:c.2594A>G NP_006255.1:p.His865Arg NC_000004.12:86745071:A:G p.(His865Arg) NC_000004.12:86745071:A:G p.(His865Arg) NC_000004.12:86745071:A:G Identity +NM_001256106.3:c.1865G>A NP_001243035.1:p.Arg622His NC_000001.11:117018407:G:A p.(Arg622His) NC_000001.11:117018407:G:A p.(Arg622His) NC_000001.11:117018407:G:A Identity +NM_015114.3:c.1276G>A NP_055929.1:p.Asp426Asn NC_000012.12:132743230:C:T p.(Asp426Asn) NC_000012.12:132743230:C:T p.(Asp426Asn) NC_000012.12:132743230:C:T Identity +NM_000275.3:c.2500G>A NP_000266.2:p.Val834Met NC_000015.10:27755404:C:T p.(Val834Met) NC_000015.10:27755404:C:T p.(Val834Met) NC_000015.10:27755404:C:T Identity +NM_001242929.2:c.181T>G NP_001229858.1:p.Cys61Gly NC_000016.10:4724820:A:C p.(Cys61Gly) NC_000016.10:4724820:A:C p.(Cys61Gly) NC_000016.10:4724820:A:C Identity +NM_005932.4:c.671A>G NP_005923.3:p.Asn224Ser NC_000013.11:23870127:T:C p.(Asn224Ser) NC_000013.11:23870127:T:C p.(Asn224Ser) NC_000013.11:23870127:T:C Identity +NM_001319100.2:c.1100T>A NP_001306029.1:p.Phe367Tyr NC_000002.12:65072195:T:A p.(Phe367Tyr) NC_000002.12:65072195:T:A p.(Phe367Tyr) NC_000002.12:65072195:T:A Identity +NM_005038.3:c.529G>A NP_005029.1:p.Val177Ile NC_000004.12:158715677:C:T p.(Val177Ile) NC_000004.12:158715677:C:T p.(Val177Ile) NC_000004.12:158715677:C:T Identity +NM_001807.6:c.965A>G NP_001798.3:p.Asn322Ser NC_000009.12:133068740:A:G p.(Asn322Ser) NC_000009.12:133068740:A:G p.(Asn322Ser) NC_000009.12:133068740:A:G Identity +NM_001098503.2:c.1352A>G NP_001091973.1:p.His451Arg NC_000011.10:48128037:A:G p.(His451Arg) NC_000011.10:48128037:A:G p.(His451Arg) NC_000011.10:48128037:A:G Identity +NM_021978.4:c.1048A>G NP_068813.1:p.Thr350Ala NC_000011.10:130194671:A:G p.(Thr350Ala) NC_000011.10:130194671:A:G p.(Thr350Ala) NC_000011.10:130194671:A:G Identity +NM_001204366.2:c.277T>C NP_001191295.1:p.Tyr93His NC_000004.12:139703501:T:C p.(Tyr93His) NC_000004.12:139703501:T:C p.(Tyr93His) NC_000004.12:139703501:T:C Identity +NM_003786.4:c.2768G>A NP_003777.2:p.Arg923Gln NC_000017.11:50675683:G:A p.(Arg923Gln) NC_000017.11:50675683:G:A p.(Arg923Gln) NC_000017.11:50675683:G:A Identity +NM_001351444.2:c.6866G>A NP_001338373.1:p.Arg2289Gln NC_000006.12:87260914:G:A p.(Arg2289Gln) NC_000006.12:87260914:G:A p.(Arg2289Gln) NC_000006.12:87260914:G:A Identity +NM_001376131.1:c.3292A>T NP_001363060.1:p.Asn1098Tyr NC_000001.11:92180974:A:T p.(Asn1098Tyr) NC_000001.11:92180974:A:T p.(Asn1098Tyr) NC_000001.11:92180974:A:T Identity +NM_001139456.2:c.985G>A NP_001132928.1:p.Glu329Lys NC_000007.14:138628241:C:T p.(Glu329Lys) NC_000007.14:138628241:C:T p.(Glu329Lys) NC_000007.14:138628241:C:T Identity +NM_001145472.3:c.1857G>C NP_001138944.1:p.Trp619Cys NC_000018.10:46521177:C:G p.(Trp619Cys) NC_000018.10:46521177:C:G p.(Trp619Cys) NC_000018.10:46521177:C:G Identity +NM_007255.3:c.697C>T NP_009186.1:p.Arg233Trp NC_000005.10:177608595:C:T p.(Arg233Trp) NC_000005.10:177608595:C:T p.(Arg233Trp) NC_000005.10:177608595:C:T Identity +NM_000070.3:c.329G>A NP_000061.1:p.Arg110Gln NC_000015.10:42384501:G:A p.(Arg110Gln) NC_000015.10:42384501:G:A p.(Arg110Gln) NC_000015.10:42384501:G:A Identity +NM_001319218.2:c.179G>A NP_001306147.1:p.Arg60Gln NC_000001.11:18889431:C:T p.(Arg60Gln) NC_000001.11:18889431:C:T p.(Arg60Gln) NC_000001.11:18889431:C:T Identity +NM_000280.6:c.163A>T NP_000271.1:p.Lys55Ter NC_000011.10:31801754:T:A p.(Lys55Ter) NC_000011.10:31801754:T:A p.(Lys55Ter) NC_000011.10:31801754:T:A Identity +NM_001145661.2:c.655dup NP_001139133.1:p.Glu219fs NC_000003.12:128485942:CC:CCC p.(Glu219GlyfsTer63) NC_000003.12:128485942:CC:CCC p.(Glu219GlyfsTer63) ERR:SPDI Analogous +NM_000257.4:c.1858_1859del NP_000248.2:p.Leu620fs NC_000014.9:23427613:AG: p.(Leu620ValfsTer8) NC_000014.9:23427613:AG: p.(Leu620ValfsTer8) NC_000014.9:23427613:AG: Analogous +NM_001162383.2:c.382G>A NP_001155855.1:p.Asp128Asn NC_000001.11:155965718:C:T p.(Asp128Asn) NC_000001.11:155965718:C:T p.(Asp128Asn) NC_000001.11:155965718:C:T Identity +NM_000384.3:c.12929T>C NP_000375.3:p.Ile4310Thr NC_000002.12:21002492:A:G p.(Ile4310Thr) NC_000002.12:21002492:A:G p.(Ile4310Thr) NC_000002.12:21002492:A:G Identity +NM_000492.4:c.892A>T NP_000483.3:p.Lys298Ter NC_000007.14:117540121:A:T p.(Lys298Ter) NC_000007.14:117540121:A:T p.(Lys298Ter) NC_000007.14:117540121:A:T Identity +NM_000535.7:c.1769T>C NP_000526.2:p.Ile590Thr NC_000007.14:5986995:A:G p.(Ile590Thr) NC_000007.14:5986995:A:G p.(Ile590Thr) NC_000007.14:5986995:A:G Identity +NM_001318314.2:c.13A>G NP_001305243.1:p.Arg5Gly NC_000022.11:28742107:A:G p.(Arg5Gly) NC_000022.11:28742107:A:G p.(Arg5Gly) NC_000022.11:28742107:A:G Identity +NM_206933.4:c.7932G>A NP_996816.3:p.Trp2644Ter NC_000001.11:215888716:C:T p.(Trp2644Ter) NC_000001.11:215888716:C:T p.(Trp2644Ter) NC_000001.11:215888716:C:T Identity +NM_020247.5:c.1358del NP_064632.2:p.Leu453fs NC_000001.11:226984194:T: p.(Leu453ArgfsTer24) NC_000001.11:226984194:T: p.(Leu453ArgfsTer24) NC_000001.11:226984194:T: Analogous +NM_001363823.2:c.1466_1467del NP_001350752.1:p.Gln489fs NC_000002.12:32137163:AA: p.(Gln489ArgfsTer3) NC_000002.12:32137163:AA: p.(Gln489ArgfsTer3) NC_000002.12:32137163:AA: Analogous +NM_001136193.2:c.1865A>G NP_001129665.1:p.Asp622Gly NC_000002.12:206788869:A:G p.(Asp622Gly) NC_000002.12:206788869:A:G p.(Asp622Gly) NC_000002.12:206788869:A:G Identity +NM_000060.4:c.322A>G NP_000051.1:p.Ile108Val NC_000003.12:15641919:A:G ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_001363577.2:c.1000G>C NP_001350506.1:p.Ala334Pro NC_000004.12:26430439:G:C p.(Ala334Pro) NC_000004.12:26430439:G:C p.(Ala334Pro) NC_000004.12:26430439:G:C Identity +NM_001142800.2:c.8590G>T NP_001136272.1:p.Gly2864Ter NC_000006.12:63721440:C:A p.(Gly2864Ter) NC_000006.12:63721440:C:A p.(Gly2864Ter) NC_000006.12:63721440:C:A Identity +NM_000155.4:c.895G>A NP_000146.2:p.Gly299Ser NC_000009.12:34649071:G:A p.(Gly299Ser) NC_000009.12:34649071:G:A p.(Gly299Ser) NC_000009.12:34649071:G:A Identity +NM_001177316.2:c.940G>A NP_001170787.2:p.Ala314Thr NC_000009.12:137234122:G:A p.(Ala314Thr) NC_000009.12:137234122:G:A p.(Ala314Thr) NC_000009.12:137234122:G:A Identity +LRG_1347t1:c.2146G>T LRG_1347p1:p.Asp716Tyr NC_000010.11:102401253:G:T ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found ERR:AlignmentMapper(tx_ac=LRG_1347t1, alt_ac=LRG_1347t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1347t1, alt_ac=LRG_1347t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1347t1 not found +NM_001243776.2:c.1315A>G NP_001230705.1:p.Arg439Gly NC_000011.10:95831094:A:G p.(Arg439Gly) NC_000011.10:95831094:A:G p.(Arg439Gly) NC_000011.10:95831094:A:G Identity +NM_001197104.2:c.4429CGT[1] NP_001184033.1:p.Arg1478del NC_000011.10:118488707:GTCGTCGT:GTCGT p.(Arg1478del) NC_000011.10:118488709:C:CGT ERR:Parse ERR:Parse Identity +NM_003482.4:c.14529G>T NP_003473.3:p.Lys4843Asn NC_000012.12:49027916:C:A p.(Lys4843Asn) NC_000012.12:49027916:C:A p.(Lys4843Asn) NC_000012.12:49027916:C:A Identity +NM_001162497.3:c.341_344del NP_001155969.1:p.Arg114fs NC_000013.11:48412079:AATC: p.(Arg114LeufsTer13) NC_000013.11:48412079:AATC: p.(Arg114LeufsTer13) NC_000013.11:48412079:AATC: Analogous +NM_000548.5:c.2501C>G NP_000539.2:p.Ser834Ter NC_000016.10:2074344:C:G p.(Ser834Ter) NC_000016.10:2074344:C:G p.(Ser834Ter) NC_000016.10:2074344:C:G Identity +NM_006662.3:c.2752A>C NP_006653.2:p.Thr918Pro NC_000016.10:30716413:A:C p.(Thr918Pro) NC_000016.10:30716413:A:C p.(Thr918Pro) NC_000016.10:30716413:A:C Identity +NM_000180.4:c.1672G>A NP_000171.1:p.Asp558Asn NC_000017.11:8009508:G:A p.(Asp558Asn) NC_000017.11:8009508:G:A p.(Asp558Asn) NC_000017.11:8009508:G:A Identity +NM_000268.4:c.745_752del NP_000259.1:p.Arg249fs NC_000022.11:29661271:ACAGACTGAC:AC p.(Arg249ProfsTer9) NC_000022.11:29661271:ACAGACTGAC:AC p.(Arg249ProfsTer9) NC_000022.11:29661273:AGACTGAC: Analogous +NM_001362843.2:c.3629dup NP_001349772.1:p.Asn1210fs NC_000022.11:41162752:AAAAAA:AAAAAAA p.(Asn1210LysfsTer2) NC_000022.11:41162752:AAAAAA:AAAAAAA p.(Asn1210LysfsTer2) ERR:SPDI Analogous +NM_001362843.2:c.3671G>A NP_001349772.1:p.Cys1224Tyr NC_000022.11:41164072:G:A p.(Cys1224Tyr) NC_000022.11:41164072:G:A p.(Cys1224Tyr) NC_000022.11:41164072:G:A Identity +NM_000109.4:c.10609_10610dup NP_000100.3:p.Met3537fs NC_000023.11:31147437:AT:ATAT p.(Met3537IlefsTer2) NC_000023.11:31147437:AT:ATAT p.(Met3537IlefsTer2) ERR:SPDI Analogous +NM_001195248.2:c.686del NP_001182177.2:p.Thr229fs NC_000009.12:32984714:G: p.(Thr229MetfsTer6) NC_000009.12:32984714:G: p.(Thr229MetfsTer6) NC_000009.12:32984714:G: Analogous +NM_000435.3:c.1051C>A NP_000426.2:p.Leu351Met NC_000019.10:15189413:G:T p.(Leu351Met) NC_000019.10:15189413:G:T p.(Leu351Met) NC_000019.10:15189413:G:T Identity +NM_000083.3:c.2108G>C NP_000074.3:p.Gly703Ala NC_000007.14:143345697:G:C p.(Gly703Ala) NC_000007.14:143345697:G:C p.(Gly703Ala) NC_000007.14:143345697:G:C Identity +NM_001927.4:c.322G>T NP_001918.3:p.Glu108Ter NC_000002.12:219418783:G:T p.(Glu108Ter) NC_000002.12:219418783:G:T p.(Glu108Ter) NC_000002.12:219418783:G:T Identity +NM_001378969.1:c.1427A>G NP_001365898.1:p.His476Arg NC_000001.11:111780258:T:C p.(His476Arg) NC_000001.11:111780258:T:C p.(His476Arg) NC_000001.11:111780258:T:C Identity +NM_000296.4:c.2109C>A NP_000287.4:p.His703Gln NC_000016.10:2114913:G:T p.(His703Gln) NC_000016.10:2114913:G:T p.(His703Gln) NC_000016.10:2114913:G:T Identity +NM_001144881.2:c.626G>A NP_001138353.1:p.Arg209His NC_000012.12:42466342:C:T p.(Arg209His) NC_000012.12:42466342:C:T p.(Arg209His) NC_000012.12:42466342:C:T Identity +NM_006946.4:c.4374G>T NP_008877.2:p.Glu1458Asp NC_000011.10:66694267:C:A p.(Glu1458Asp) NC_000011.10:66694267:C:A p.(Glu1458Asp) NC_000011.10:66694267:C:A Identity +NM_020451.3:c.1249C>T NP_065184.2:p.Arg417Cys NC_000001.11:25811846:C:T p.(Arg417Cys) NC_000001.11:25811846:C:T p.? NC_000001.11:25811846:C:T Identity +NM_033071.5:c.14677G>A NP_149062.2:p.Glu4893Lys NC_000006.12:152329794:C:T p.(Glu4893Lys) NC_000006.12:152329794:C:T p.(Glu4893Lys) NC_000006.12:152329794:C:T Identity +NM_173500.4:c.452G>A NP_775771.3:p.Arg151His NC_000015.10:42828012:C:T p.(Arg151His) NC_000015.10:42828012:C:T p.(Arg151His) NC_000015.10:42828012:C:T Identity +NM_001272037.2:c.1126C>T NP_001258966.1:p.Arg376Trp NC_000021.9:44525658:G:A p.(Arg376Trp) NC_000021.9:44525658:G:A p.(Arg376Trp) NC_000021.9:44525658:G:A Identity +NM_001256850.1:c.14948C>T NP_001243779.1:p.Pro4983Leu NC_000002.12:178733393:G:A p.(Pro4983Leu) NC_000002.12:178733393:G:A p.(Pro4983Leu) NC_000002.12:178733393:G:A Identity +NM_001321541.2:c.110T>C NP_001308470.1:p.Met37Thr NC_000001.11:224189603:T:C p.(Met37Thr) NC_000001.11:224189603:T:C p.(Met37Thr) NC_000001.11:224189603:T:C Identity +NM_002858.4:c.1382T>A NP_002849.1:p.Phe461Tyr NC_000001.11:94491242:T:A p.(Phe461Tyr) NC_000001.11:94491242:T:A p.(Phe461Tyr) NC_000001.11:94491242:T:A Identity +NM_001256336.3:c.2386G>A NP_001243265.1:p.Val796Met NC_000001.11:147295500:G:A p.(Val796Met) NC_000001.11:147295500:G:A p.(Val796Met) NC_000001.11:147295500:G:A Identity +NM_002238.4:c.9G>A NP_002229.1:p.Met3Ile NC_000001.11:211133936:C:T p.(Met3Ile) NC_000001.11:211133936:C:T p.(Met3Ile) NC_000001.11:211133936:C:T Identity +NM_001422628.1:c.422C>A NP_001409557.1:p.Pro141His NC_000001.11:236482488:C:A p.(Pro141His) NC_000001.11:236482488:C:A p.(Pro141His) NC_000001.11:236482488:C:A Identity +NM_001035.3:c.13320A>T NP_001026.2:p.Glu4440Asp NC_000001.11:237786027:A:T p.(Glu4440Asp) NC_000001.11:237786027:A:T p.(Glu4440Asp) NC_000001.11:237786027:A:T Identity +NM_213649.2:c.410C>T NP_998814.1:p.Pro137Leu NC_000010.11:119158012:G:A p.(Pro137Leu) NC_000010.11:119158012:G:A p.(Pro137Leu) NC_000010.11:119158012:G:A Identity +NM_001042780.3:c.611T>C NP_001036245.1:p.Ile204Thr NC_000011.10:1934872:T:C p.(Ile204Thr) NC_000011.10:1934872:T:C p.(Ile204Thr) NC_000011.10:1934872:T:C Identity +NM_001128225.3:c.572C>T NP_001121697.2:p.Ala191Val NC_000011.10:47413433:C:T p.(Ala191Val) NC_000011.10:47413433:C:T p.(Ala191Val) NC_000011.10:47413433:C:T Identity +NM_032193.4:c.227C>T NP_115569.2:p.Pro76Leu NC_000011.10:65720362:G:A p.(Pro76Leu) NC_000011.10:65720362:G:A p.(Pro76Leu) NC_000011.10:65720362:G:A Identity +NM_001291902.2:c.1703T>A NP_001278831.1:p.Leu568Gln NC_000011.10:68425995:T:A p.(Leu568Gln) NC_000011.10:68425995:T:A p.(Leu568Gln) NC_000011.10:68425995:T:A Identity +NM_001197104.2:c.4177dup NP_001184033.1:p.Ile1393fs NC_000011.10:118484267:AAAAAA:AAAAAAA p.(Ile1393AsnfsTer14) NC_000011.10:118484267:AAAAAA:AAAAAAA p.(Ile1393AsnfsTer14) ERR:SPDI Analogous +NM_001042399.2:c.1684C>T NP_001035858.1:p.Arg562Ter NC_000012.12:94331722:G:A p.(Arg562Ter) NC_000012.12:94331722:G:A p.(Arg562Ter) NC_000012.12:94331722:G:A Identity +NM_001376.5:c.7570G>C NP_001367.2:p.Val2524Leu NC_000014.9:102016444:G:C p.(Val2524Leu) NC_000014.9:102016444:G:C p.(Val2524Leu) NC_000014.9:102016444:G:C Identity +NM_001306219.3:c.1321C>T NP_001293148.1:p.Arg441Cys NC_000015.10:57273114:C:T p.(Arg441Cys) NC_000015.10:57273114:C:T p.(Arg441Cys) NC_000015.10:57273114:C:T Identity +NM_001005407.2:c.3352C>A NP_001005407.1:p.Gln1118Lys NC_000016.10:1208209:C:A p.(Gln1118Lys) NC_000016.10:1208209:C:A p.(Gln1118Lys) NC_000016.10:1208209:C:A Identity +NM_001605.3:c.988C>T NP_001596.2:p.Arg330Ter NC_000016.10:70268353:G:A p.(Arg330Ter) NC_000016.10:70268353:G:A p.(Arg330Ter) NC_000016.10:70268353:G:A Identity +NM_001271.4:c.4144G>A NP_001262.3:p.Gly1382Ser NC_000015.10:93002182:G:A p.(Gly1382Ser) NC_000015.10:93002182:G:A p.(Gly1382Ser) NC_000015.10:93002182:G:A Identity +NM_000166.6:c.783_784del NP_000157.1:p.Ile262fs NC_000023.11:71224488:ACA:A p.(Ile262ThrfsTer13) NC_000023.11:71224488:ACA:A p.(Ile262ThrfsTer13) NC_000023.11:71224489:CA: Analogous +NM_002755.4:c.53C>G NP_002746.1:p.Ser18Cys NC_000015.10:66387399:C:G p.(Ser18Cys) NC_000015.10:66387399:C:G p.(Ser18Cys) NC_000015.10:66387399:C:G Identity +NM_001130690.3:c.652C>T NP_001124162.1:p.Arg218Trp NC_000006.12:165433014:G:A p.(Arg218Trp) NC_000006.12:165433014:G:A p.(Arg218Trp) NC_000006.12:165433014:G:A Identity +NM_001318163.1:c.99_100del NP_001305092.1:p.Lys34fs NC_000007.14:105508412:TCT:T p.(Lys34AlafsTer16) NC_000007.14:105508412:TCT:T p.(Lys34AlafsTer16) NC_000007.14:105508412:TC: Analogous +NM_001293212.2:c.508C>T NP_001280141.1:p.Leu170Phe NC_000006.12:30723509:C:T p.(Leu170Phe) NC_000006.12:30723509:C:T p.(Leu170Phe) NC_000006.12:30723509:C:T Identity +NM_001199642.1:c.1021A>G NP_001186571.1:p.Lys341Glu NC_000003.12:123325338:T:C p.(Lys341Glu) NC_000003.12:123325338:T:C p.(Lys341Glu) NC_000003.12:123325338:T:C Identity +NM_001080517.3:c.2154del NP_001073986.1:p.Val719fs NC_000003.12:9448437:T: p.(Val719LeufsTer18) NC_000003.12:9448437:T: p.(Val719LeufsTer18) NC_000003.12:9448437:T: Analogous +NM_001363734.1:c.1853dup NP_001350663.1:p.Gly619fs NC_000020.11:32434744:GGGG:GGGGG p.(Gly619ArgfsTer38) NC_000020.11:32434744:GGGG:GGGGG p.(Gly619ArgfsTer38) ERR:SPDI Analogous +NM_001110556.2:c.6445C>T NP_001104026.1:p.Arg2149Trp NC_000023.11:154352609:G:A p.(Arg2149Trp) NC_000023.11:154352609:G:A p.(Arg2149Trp) NC_000023.11:154352609:G:A Identity +NM_024675.4:c.2302T>C NP_078951.2:p.Cys768Arg NC_000016.10:23629851:A:G p.(Cys768Arg) NC_000016.10:23629851:A:G p.(Cys768Arg) NC_000016.10:23629851:A:G Identity +NM_001286075.2:c.52C>T NP_001273004.1:p.Arg18Trp NC_000016.10:28882552:C:T p.(Arg18Trp) NC_000016.10:28882552:C:T p.(Arg18Trp) NC_000016.10:28882552:C:T Identity +NM_001330661.1:c.1162T>G NP_001317590.1:p.Tyr388Asp NC_000023.11:137569002:T:G p.(Tyr388Asp) NC_000023.11:137569002:T:G p.(Tyr388Asp) NC_000023.11:137569002:T:G Identity +NM_022166.4:c.1216C>T NP_071449.1:p.Arg406Trp NC_000016.10:17198284:G:A p.(Arg406Trp) NC_000016.10:17198284:G:A p.(Arg406Trp) NC_000016.10:17198284:G:A Identity +NM_001127617.2:c.902_904del NP_001121089.1:p.Ser301del NC_000016.10:30069929:CTCCT:CT p.(Ser301del) NC_000016.10:30069929:CTCCT:CT p.(Ser301del) NC_000016.10:30069931:CCT: Identity +NM_000271.5:c.579G>A NP_000262.2:p.Met193Ile NC_000018.10:23561411:C:T p.(Met193Ile) NC_000018.10:23561411:C:T p.(Met193Ile) NC_000018.10:23561411:C:T Identity +NM_016373.4:c.287A>G NP_057457.1:p.Asp96Gly NC_000016.10:78115031:A:G p.(Asp96Gly) NC_000016.10:78115031:A:G p.(Asp96Gly) NC_000016.10:78115031:A:G Identity +NM_003119.4:c.2271G>A NP_003110.1:p.Met757Ile NC_000016.10:89556975:G:A p.(Met757Ile) NC_000016.10:89556975:G:A p.(Met757Ile) NC_000016.10:89556975:G:A Identity +NM_033198.4:c.689C>T NP_149975.1:p.Thr230Ile NC_000017.11:28560178:G:A p.(Thr230Ile) NC_000017.11:28560178:G:A p.(Thr230Ile) NC_000017.11:28560178:G:A Identity +NM_021939.4:c.595G>A NP_068758.3:p.Gly199Ser NC_000017.11:41818394:G:A p.(Gly199Ser) NC_000017.11:41818394:G:A p.(Gly199Ser) NC_000017.11:41818394:G:A Identity +NM_030928.4:c.1348C>T NP_112190.2:p.Arg450Cys NC_000016.10:88807352:C:T p.(Arg450Cys) NC_000016.10:88807352:C:T p.(Arg450Cys) NC_000016.10:88807352:C:T Identity +NM_001318509.2:c.979C>G NP_001305438.1:p.Leu327Val NC_000023.11:109678061:G:C p.(Leu327Val) NC_000023.11:109678061:G:C p.(Leu327Val) NC_000023.11:109678061:G:C Identity +NM_000296.4:c.6557G>T NP_000287.4:p.Arg2186Leu NC_000016.10:2108609:C:A p.(Arg2186Leu) NC_000016.10:2108609:C:A p.(Arg2186Leu) NC_000016.10:2108609:C:A Identity +NM_001293557.2:c.347G>A NP_001280486.1:p.Arg116Lys NC_000016.10:50699841:G:A p.(Arg116Lys) NC_000016.10:50699841:G:A p.(Arg116Lys) NC_000016.10:50699841:G:A Identity +NM_001164766.2:c.3431C>T NP_001158238.1:p.Pro1144Leu NC_000016.10:72796508:G:A p.(Pro1144Leu) NC_000016.10:72796508:G:A p.(Pro1144Leu) NC_000016.10:72796508:G:A Identity +NM_015909.4:c.4295T>C NP_056993.2:p.Val1432Ala NC_000002.12:15330649:A:G p.(Val1432Ala) NC_000002.12:15330649:A:G p.(Val1432Ala) NC_000002.12:15330649:A:G Identity +NM_000182.5:c.2281T>C NP_000173.2:p.Phe761Leu NC_000002.12:26191260:A:G p.(Phe761Leu) NC_000002.12:26191260:A:G p.(Phe761Leu) NC_000002.12:26191260:A:G Identity +NM_018153.3:c.854T>A NP_060623.2:p.Ile285Asn NC_000002.12:69123067:T:A p.(Ile285Asn) NC_000002.12:69123067:T:A p.(Ile285Asn) NC_000002.12:69123067:T:A Identity +NM_014014.5:c.583A>G NP_054733.2:p.Ile195Val NC_000002.12:96301044:T:C p.(Ile195Val) NC_000002.12:96301044:T:C p.(Ile195Val) NC_000002.12:96301044:T:C Identity +NM_001172435.2:c.2421C>G NP_001165906.1:p.Ile807Met NC_000002.12:135162781:C:G p.(Ile807Met) NC_000002.12:135162781:C:G p.(Ile807Met) NC_000002.12:135162781:C:G Identity +NM_001178015.2:c.980C>T NP_001171486.1:p.Pro327Leu NC_000002.12:161879161:C:T p.(Pro327Leu) NC_000002.12:161879161:C:T p.(Pro327Leu) NC_000002.12:161879161:C:T Identity +NM_001256849.1:c.452C>T NP_001243778.1:p.Pro151Leu NC_000019.10:50401912:C:T p.(Pro151Leu) NC_000019.10:50401912:C:T p.(Pro151Leu) NC_000019.10:50401912:C:T Identity +NM_001306079.2:c.1486C>T NP_001293008.1:p.Arg496Trp NC_000002.12:27225108:C:T p.(Arg496Trp) NC_000002.12:27225108:C:T p.(Arg496Trp) NC_000002.12:27225108:C:T Identity +NM_001201543.2:c.1602G>T NP_001188472.1:p.Lys534Asn NC_000002.12:61838686:C:A p.(Lys534Asn) NC_000002.12:61838686:C:A p.(Lys534Asn) NC_000002.12:61838686:C:A Identity +NM_001165963.4:c.1546G>A NP_001159435.1:p.Asp516Asn NC_000002.12:166045158:C:T p.(Asp516Asn) NC_000002.12:166045158:C:T p.(Asp516Asn) NC_000002.12:166045158:C:T Identity +NM_003742.4:c.2617G>A NP_003733.2:p.Gly873Ser NC_000002.12:168936426:C:T p.(Gly873Ser) NC_000002.12:168936426:C:T p.(Gly873Ser) NC_000002.12:168936426:C:T Identity +NM_003742.4:c.640G>A NP_003733.2:p.Ala214Thr NC_000002.12:168993853:C:T p.(Ala214Thr) NC_000002.12:168993853:C:T p.(Ala214Thr) NC_000002.12:168993853:C:T Identity +NM_005876.5:c.1402C>T NP_005867.3:p.Arg468Cys NC_000002.12:219448559:C:T p.(Arg468Cys) NC_000002.12:219448559:C:T p.(Arg468Cys) NC_000002.12:219448559:C:T Identity +NM_173628.4:c.5859C>A NP_775899.3:p.Tyr1953Ter NC_000017.11:78495918:G:T p.(Tyr1953Ter) NC_000017.11:78495918:G:T p.(Tyr1953Ter) NC_000017.11:78495918:G:T Identity +NM_173628.4:c.5491A>G NP_775899.3:p.Ile1831Val NC_000017.11:78500453:T:C p.(Ile1831Val) NC_000017.11:78500453:T:C p.(Ile1831Val) NC_000017.11:78500453:T:C Identity +NM_001160302.2:c.2038A>G NP_001153774.1:p.Thr680Ala NC_000021.9:32666049:T:C p.(Thr680Ala) NC_000021.9:32666049:T:C p.(Thr680Ala) NC_000021.9:32666049:T:C Identity +NM_001407.3:c.8885C>G NP_001398.2:p.Pro2962Arg NC_000003.12:48641463:G:C p.(Pro2962Arg) NC_000003.12:48641463:G:C p.(Pro2962Arg) NC_000003.12:48641463:G:C Identity +NM_001291411.2:c.3299A>G NP_001278340.2:p.Asp1100Gly NC_000021.9:33552529:A:G p.(Asp1100Gly) NC_000021.9:33552529:A:G p.(Asp1100Gly) NC_000021.9:33552529:A:G Identity +NM_000308.4:c.359T>C NP_000299.3:p.Ile120Thr NC_000020.11:45892398:T:C p.(Ile120Thr) NC_000020.11:45892398:T:C p.(Ile120Thr) NC_000020.11:45892398:T:C Identity +NM_001080517.3:c.3958T>C NP_001073986.1:p.Tyr1320His NC_000003.12:9475719:T:C p.(Tyr1320His) NC_000003.12:9475719:T:C p.(Tyr1320His) NC_000003.12:9475719:T:C Identity +NM_001371656.1:c.502C>A NP_001358585.1:p.His168Asn NC_000006.12:156778181:C:A p.(His168Asn) NC_000006.12:156778181:C:A p.(His168Asn) NC_000006.12:156778181:C:A Identity +NM_001164665.2:c.4989T>G NP_001158137.1:p.Tyr1663Ter NC_000007.14:138861396:A:C p.(Tyr1663Ter) NC_000007.14:138861396:A:C p.(Tyr1663Ter) NC_000007.14:138861396:A:C Identity +NM_001256850.1:c.55892C>T NP_001243779.1:p.Pro18631Leu NC_000002.12:178590909:G:A p.(Pro18631Leu) NC_000002.12:178590909:G:A p.(Pro18631Leu) NC_000002.12:178590909:G:A Identity +NM_001267550.2:c.10382T>G NP_001254479.2:p.Leu3461Arg NC_000002.12:178757837:A:C p.(Leu3461Arg) NC_000002.12:178757837:A:C p.(Leu3461Arg) NC_000002.12:178757837:A:C Identity +NM_001173431.2:c.3236A>T NP_001166902.1:p.Glu1079Val NC_000002.12:219558449:T:A p.(Glu1079Val) NC_000002.12:219558449:T:A p.(Glu1079Val) NC_000002.12:219558449:T:A Identity +NM_000521.4:c.1667T>C NP_000512.2:p.Met556Thr NC_000005.10:74721170:T:C p.(Met556Thr) NC_000005.10:74721170:T:C p.(Met556Thr) NC_000005.10:74721170:T:C Identity +NM_001999.4:c.313C>T NP_001990.2:p.Pro105Ser NC_000005.10:128536425:G:A p.(Pro105Ser) NC_000005.10:128536425:G:A p.(Pro105Ser) NC_000005.10:128536425:G:A Identity +NM_001318809.2:c.788del NP_001305738.1:p.Leu263fs NC_000006.12:13306404:A: p.(Leu263ArgfsTer13) NC_000006.12:13306404:A: p.(Leu263ArgfsTer13) NC_000006.12:13306404:A: Analogous +NM_000377.3:c.1374del NP_000368.1:p.Pro459fs NC_000023.11:48689354:A: p.(Pro459HisfsTer12) NC_000023.11:48689354:A: p.(Pro459HisfsTer12) NC_000023.11:48689354:A: Analogous +NM_003906.5:c.2867G>A NP_003897.2:p.Arg956Lys NC_000021.9:46266088:C:T p.(Arg956Lys) NC_000021.9:46266088:C:T p.(Arg956Lys) NC_000021.9:46266088:C:T Identity +NM_001315529.2:c.594G>C NP_001302458.1:p.Glu198Asp NC_000021.9:46346969:G:C p.(Glu198Asp) NC_000021.9:46346969:G:C p.(Glu198Asp) NC_000021.9:46346969:G:C Identity +NM_002430.3:c.3903G>A NP_002421.3:p.Trp1301Ter NC_000022.11:27750974:C:T p.(Trp1301Ter) NC_000022.11:27750974:C:T p.(Trp1301Ter) NC_000022.11:27750974:C:T Identity +NM_001098.3:c.2173dup NP_001089.1:p.Thr725fs NC_000022.11:41527986:A:AA p.(Thr725AsnfsTer40) NC_000022.11:41527986:A:AA p.(Thr725AsnfsTer40) ERR:SPDI Analogous +NM_001365819.1:c.4418T>C NP_001352748.1:p.Leu1473Pro NC_000022.11:50455284:A:G p.(Leu1473Pro) NC_000022.11:50455284:A:G p.(Leu1473Pro) NC_000022.11:50455284:A:G Identity +NM_020529.3:c.91G>A NP_065390.1:p.Asp31Asn NC_000014.9:35404553:C:T p.(Asp31Asn) NC_000014.9:35404553:C:T p.(Asp31Asn) NC_000014.9:35404553:C:T Identity +NM_001377523.1:c.1531G>A NP_001364452.1:p.Glu511Lys NC_000014.9:21345132:G:A p.(Glu511Lys) NC_000014.9:21345132:G:A p.(Glu511Lys) NC_000014.9:21345132:G:A Identity +NM_000253.4:c.2634C>G NP_000244.2:p.Cys878Trp NC_000004.12:99622796:C:G p.(Cys878Trp) NC_000004.12:99622796:C:G p.(Cys878Trp) NC_000004.12:99622796:C:G Identity +NM_001165412.2:c.304A>G NP_001158884.1:p.Asn102Asp NC_000004.12:102567034:A:G p.(Asn102Asp) NC_000004.12:102567034:A:G p.(Asn102Asp) NC_000004.12:102567034:A:G Identity +NM_001300823.2:c.746A>G NP_001287752.1:p.Lys249Arg NC_000004.12:120816478:T:C p.(Lys249Arg) NC_000004.12:120816478:T:C p.(Lys249Arg) NC_000004.12:120816478:T:C Identity +NM_001151.4:c.455G>T NP_001142.2:p.Arg152Leu NC_000004.12:185145106:G:T p.(Arg152Leu) NC_000004.12:185145106:G:T p.(Arg152Leu) NC_000004.12:185145106:G:T Identity +NM_001167595.2:c.603G>A NP_001161067.1:p.Leu201= NC_000005.10:33998776:C:T p.(Leu201=) NC_000005.10:33998776:C:T p.(Leu201=) NC_000005.10:33998776:C:T Identity +NM_000055.4:c.352G>T NP_000046.1:p.Glu118Ter NC_000003.12:165830681:C:A p.(Glu118Ter) NC_000003.12:165830681:C:A p.(Glu118Ter) NC_000003.12:165830681:C:A Identity +NM_001035003.2:c.16A>T NP_001030175.1:p.Lys6Ter NC_000004.12:21697421:T:A p.(Lys6Ter) NC_000004.12:21697421:T:A p.(Lys6Ter) NC_000004.12:21697421:T:A Identity +NM_001271946.2:c.3386C>A NP_001258875.2:p.Pro1129Gln NC_000005.10:168685876:G:T p.(Pro1129Gln) NC_000005.10:168685876:G:T p.(Pro1129Gln) NC_000005.10:168685876:G:T Identity +NM_005338.7:c.2450T>C NP_005329.3:p.Leu817Ser NC_000007.14:75547769:A:G p.(Leu817Ser) NC_000007.14:75547769:A:G p.(Leu817Ser) NC_000007.14:75547769:A:G Identity +NM_001025366.3:c.19_22dup NP_001020537.2:p.Thr8fs NC_000006.12:43770712:GACAGACAGACAGACA:GACAGACAGACAGACAGACA p.(Thr8ArgfsTer78) NC_000006.12:43770712:GACAGACAGACAGACA:GACAGACAGACAGACAGACA p.(Thr8ArgfsTer78) ERR:SPDI Analogous +NM_000132.4:c.1439T>C NP_000123.1:p.Leu480Pro NC_000023.11:154965973:A:G p.(Leu480Pro) NC_000023.11:154965973:A:G p.(Leu480Pro) NC_000023.11:154965973:A:G Identity +NM_001029883.3:c.1114G>A NP_001025054.1:p.Asp372Asn NC_000002.12:29073147:C:T p.(Asp372Asn) NC_000002.12:29073147:C:T p.(Asp372Asn) NC_000002.12:29073147:C:T Identity +NM_033071.5:c.2891A>G NP_149062.2:p.Glu964Gly NC_000006.12:152455447:T:C p.(Glu964Gly) NC_000006.12:152455447:T:C p.(Glu964Gly) NC_000006.12:152455447:T:C Identity +NM_014510.3:c.7313T>C NP_055325.2:p.Leu2438Pro NC_000007.14:82953639:A:G p.(Leu2438Pro) NC_000007.14:82953639:A:G p.(Leu2438Pro) NC_000007.14:82953639:A:G Identity +NM_000113.3:c.518A>G NP_000104.1:p.Asp173Gly NC_000009.12:129818846:T:C p.(Asp173Gly) NC_000009.12:129818846:T:C p.(Asp173Gly) NC_000009.12:129818846:T:C Identity +NM_001110792.2:c.1219A>G NP_001104262.1:p.Ser407Gly NC_000023.11:154030644:T:C p.(Ser407Gly) NC_000023.11:154030644:T:C p.(Ser407Gly) NC_000023.11:154030644:T:C Identity +NM_001322042.2:c.2368C>T NP_001308971.2:p.Pro790Ser NC_000008.11:6621606:C:T p.(Pro790Ser) NC_000008.11:6621606:C:T p.(Pro790Ser) NC_000008.11:6621606:C:T Identity +NM_000133.4:c.803G>T NP_000124.1:p.Cys268Phe NC_000023.11:139560819:G:T p.(Cys268Phe) NC_000023.11:139560819:G:T p.(Cys268Phe) NC_000023.11:139560819:G:T Identity +NM_006796.3:c.1846T>C NP_006787.2:p.Tyr616His NC_000018.10:12340334:A:G p.(Tyr616His) NC_000018.10:12340334:A:G p.(Tyr616His) NC_000018.10:12340334:A:G Identity +NM_000373.4:c.870dup NP_000364.1:p.Thr291fs NC_000003.12:124738123:TTTT:TTTTT p.(Thr291TyrfsTer16) NC_000003.12:124738123:TTTT:TTTTT p.(Thr291TyrfsTer16) ERR:SPDI Analogous +NM_000256.3:c.3476_3477insATTT NP_000247.2:p.Phe1159fs NC_000011.10:47332827:AA:AAATAA p.(Phe1159LeufsTer11) NC_000011.10:47332826:A:AAAT p.(Phe1159LeufsTer11) NC_000011.10:47332827:AA:AAAT Analogous +NM_001605.3:c.1429G>A NP_001596.2:p.Gly477Ser NC_000016.10:70265020:C:T p.(Gly477Ser) NC_000016.10:70265020:C:T p.(Gly477Ser) NC_000016.10:70265020:C:T Identity +NM_001031834.1:c.69G>C NP_001027004.1:p.Arg23Ser NC_000023.11:102937386:G:C p.(Arg23Ser) NC_000023.11:102937386:G:C p.(Arg23Ser) NC_000023.11:102937386:G:C Identity +NM_001130823.3:c.2092A>T NP_001124295.1:p.Ser698Cys NC_000019.10:10151774:T:A p.(Ser698Cys) NC_000019.10:10151774:T:A p.(Ser698Cys) NC_000019.10:10151774:T:A Identity +NM_001146282.2:c.674G>A NP_001139754.1:p.Gly225Asp NC_000014.9:35013836:G:A p.(Gly225Asp) NC_000014.9:35013836:G:A p.(Gly225Asp) NC_000014.9:35013836:G:A Identity +NM_000132.4:c.6638C>T NP_000123.1:p.Ser2213Phe NC_000023.11:154861802:G:A p.(Ser2213Phe) NC_000023.11:154861802:G:A p.(Ser2213Phe) NC_000023.11:154861802:G:A Identity +NM_014014.5:c.4036G>A NP_054733.2:p.Val1346Met NC_000002.12:96285307:C:T p.(Val1346Met) NC_000002.12:96285307:C:T p.(Val1346Met) NC_000002.12:96285307:C:T Identity +NM_003126.4:c.3397C>T NP_003117.2:p.Arg1133Trp NC_000001.11:158651446:G:A p.(Arg1133Trp) NC_000001.11:158651446:G:A p.(Arg1133Trp) NC_000001.11:158651446:G:A Identity +NM_001024858.4:c.6061G>C NP_001020029.1:p.Ala2021Pro NC_000014.9:64767820:C:G p.(Ala2021Pro) NC_000014.9:64767820:C:G p.(Ala2021Pro) NC_000014.9:64767820:C:G Identity +NM_000539.3:c.563G>A NP_000530.1:p.Gly188Glu NC_000003.12:129532282:G:A p.(Gly188Glu) NC_000003.12:129532282:G:A p.(Gly188Glu) NC_000003.12:129532282:G:A Identity +NM_000175.5:c.572A>G NP_000166.2:p.His191Arg NC_000019.10:34377819:A:G p.(His191Arg) NC_000019.10:34377819:A:G p.(His191Arg) NC_000019.10:34377819:A:G Identity +NM_000517.6:c.24G>T NP_000508.1:p.Lys8Asn NC_000016.10:172935:G:T p.(Lys8Asn) NC_000016.10:172935:G:T p.(Lys8Asn) NC_000016.10:172935:G:T Identity +NM_006371.5:c.353G>A NP_006362.1:p.Cys118Tyr NC_000003.12:33114429:G:A p.(Cys118Tyr) NC_000003.12:33114429:G:A p.(Cys118Tyr) NC_000003.12:33114429:G:A Identity +NM_000138.5:c.6071G>A NP_000129.3:p.Cys2024Tyr NC_000015.10:48441812:C:T p.(Cys2024Tyr) NC_000015.10:48441812:C:T p.(Cys2024Tyr) NC_000015.10:48441812:C:T Identity +NM_000402.4:c.1111G>A NP_000393.4:p.Val371Ile NC_000023.11:154532971:C:T p.(Val371Ile) NC_000023.11:154532971:C:T p.(Val371Ile) NC_000023.11:154532971:C:T Identity +NM_006308.3:c.316G>A NP_006299.1:p.Glu106Lys NC_000005.10:54456104:G:A p.(Glu106Lys) NC_000005.10:54456104:G:A p.(Glu106Lys) NC_000005.10:54456104:G:A Identity +NM_001166005.2:c.2021G>A NP_001159477.1:p.Ser674Asn NC_000001.11:29064994:G:A p.(Ser674Asn) NC_000001.11:29064994:G:A p.(Ser674Asn) NC_000001.11:29064994:G:A Identity +NM_001077186.2:c.2552A>G NP_001070654.1:p.Tyr851Cys NC_000019.10:50263376:A:G p.(Tyr851Cys) NC_000019.10:50263376:A:G p.(Tyr851Cys) NC_000019.10:50263376:A:G Identity +NM_000132.4:c.5301C>A NP_000123.1:p.Tyr1767Ter NC_000023.11:154906491:G:T p.(Tyr1767Ter) NC_000023.11:154906491:G:T p.(Tyr1767Ter) NC_000023.11:154906491:G:T Identity +NM_000435.3:c.2209G>A NP_000426.2:p.Ala737Thr NC_000019.10:15185343:C:T p.(Ala737Thr) NC_000019.10:15185343:C:T p.(Ala737Thr) NC_000019.10:15185343:C:T Identity +NM_000133.4:c.947T>C NP_000124.1:p.Ile316Thr NC_000023.11:139561631:T:C p.(Ile316Thr) NC_000023.11:139561631:T:C p.(Ile316Thr) NC_000023.11:139561631:T:C Identity +NM_000371.4:c.47T>A NP_000362.1:p.Phe16Tyr NC_000018.10:31591948:T:A p.(Phe16Tyr) NC_000018.10:31591948:T:A p.(Phe16Tyr) NC_000018.10:31591948:T:A Identity +NM_000180.4:c.1992T>G NP_000171.1:p.His664Gln NC_000017.11:8012484:T:G p.(His664Gln) NC_000017.11:8012484:T:G p.(His664Gln) NC_000017.11:8012484:T:G Identity +NM_001142864.4:c.5068C>T NP_001136336.2:p.Leu1690Phe NC_000016.10:88721953:G:A p.(Leu1690Phe) NC_000016.10:88721953:G:A p.(Leu1690Phe) NC_000016.10:88721953:G:A Identity +NM_025114.4:c.5788A>T NP_079390.3:p.Lys1930Ter NC_000012.12:88071847:T:A p.(Lys1930Ter) NC_000012.12:88071847:T:A p.(Lys1930Ter) NC_000012.12:88071847:T:A Identity +NM_001193640.2:c.1508G>T NP_001180569.1:p.Gly503Val NC_000001.11:197421671:G:T p.(Gly503Val) NC_000001.11:197421671:G:T p.(Gly503Val) NC_000001.11:197421671:G:T Identity +NM_005530.3:c.911C>A NP_005521.1:p.Pro304His NC_000015.10:78166195:C:A p.(Pro304His) NC_000015.10:78166195:C:A p.(Pro304His) NC_000015.10:78166195:C:A Identity +NM_000296.4:c.8087T>C NP_000287.4:p.Leu2696Pro NC_000016.10:2104571:A:G p.(Leu2696Pro) NC_000016.10:2104571:A:G p.(Leu2696Pro) NC_000016.10:2104571:A:G Identity +NM_001308164.2:c.1015C>G NP_001295093.1:p.Pro339Ala NC_000003.12:158653426:C:G p.(Pro339Ala) NC_000003.12:158653426:C:G p.(Pro339Ala) NC_000003.12:158653426:C:G Identity +NM_000091.5:c.680G>A NP_000082.2:p.Gly227Glu NC_000002.12:227253329:G:A p.(Gly227Glu) NC_000002.12:227253329:G:A p.(Gly227Glu) NC_000002.12:227253329:G:A Identity +NM_001375397.1:c.964C>G NP_001362326.1:p.Pro322Ala NC_000006.12:53013849:G:C p.(Pro322Ala) NC_000006.12:53013849:G:C p.(Pro322Ala) NC_000006.12:53013849:G:C Identity +NM_001252020.2:c.2684G>A NP_001238949.1:p.Trp895Ter NC_000015.10:31035612:C:T p.(Trp895Ter) NC_000015.10:31035612:C:T p.(Trp895Ter) NC_000015.10:31035612:C:T Identity +NM_000283.4:c.428C>A NP_000274.3:p.Ala143Asp NC_000004.12:626053:C:A p.(Ala143Asp) NC_000004.12:626053:C:A p.(Ala143Asp) NC_000004.12:626053:C:A Identity +NM_002900.3:c.3379C>T NP_002891.1:p.Gln1127Ter NC_000010.11:47355508:C:T p.(Gln1127Ter) NC_000010.11:47355508:C:T p.(Gln1127Ter) NC_000010.11:47355508:C:T Identity +NM_000350.3:c.6386G>A NP_000341.2:p.Ser2129Asn NC_000001.11:94001001:C:T p.(Ser2129Asn) NC_000001.11:94001001:C:T p.(Ser2129Asn) NC_000001.11:94001001:C:T Identity +NM_001321207.2:c.1738T>C NP_001308136.1:p.Phe580Leu NC_000017.11:31996809:T:C p.(Phe580Leu) NC_000017.11:31996809:T:C p.(Phe580Leu) NC_000017.11:31996809:T:C Identity +NM_001131005.2:c.65C>G NP_001124477.1:p.Thr22Arg NC_000005.10:88804790:G:C p.(Thr22Arg) NC_000005.10:88804790:G:C p.(Thr22Arg) NC_000005.10:88804790:G:C Identity +NM_001204.7:c.823dup NP_001195.2:p.Tyr275fs NC_000002.12:202519022:T:TT p.(Tyr275LeufsTer23) NC_000002.12:202519022:T:TT p.(Tyr275LeufsTer23) ERR:SPDI Analogous +NM_002430.3:c.3817C>T NP_002421.3:p.Gln1273Ter NC_000022.11:27751060:G:A p.(Gln1273Ter) NC_000022.11:27751060:G:A p.(Gln1273Ter) NC_000022.11:27751060:G:A Identity +NM_022168.4:c.1347C>G NP_071451.2:p.Asn449Lys NC_000002.12:162281504:G:C p.(Asn449Lys) NC_000002.12:162281504:G:C p.(Asn449Lys) NC_000002.12:162281504:G:C Identity +NM_002430.3:c.3846_3849del NP_002421.3:p.Val1283fs NC_000022.11:27751028:GACAGACAG:GACAG p.(Val1283ThrfsTer36) NC_000022.11:27751028:GACAGACAG:GACAG p.(Val1283ThrfsTer36) NC_000022.11:27751028:GACA: Analogous +NM_000283.4:c.2003A>G NP_000274.3:p.Asp668Gly NC_000004.12:663851:A:G p.(Asp668Gly) NC_000004.12:663851:A:G p.(Asp668Gly) NC_000004.12:663851:A:G Identity +NM_206933.4:c.15063_15081delinsGC NP_996816.3:p.Thr5022fs NC_000001.11:215634674:CTTTTTCCCAGGAGTTGTT:GC p.(Thr5022SerfsTer150) NC_000001.11:215634672:TTCTTTTTCCCAGGAGTTGTT:TTGC p.(Thr5022GlnfsTer150) NC_000001.11:215634674:CTTTTTCCCAGGAGTTGTT:GC Analogous +NM_001033054.3:c.34dup NP_001028226.1:p.Val12fs NC_000017.11:6435070:CCCC:CCCCC p.(Val12GlyfsTer32) NC_000017.11:6435070:CCCC:CCCCC p.(Val12GlyfsTer32) ERR:SPDI Analogous +NM_001193640.2:c.1797T>A NP_001180569.1:p.Tyr599Ter NC_000001.11:197427457:T:A p.(Tyr599Ter) NC_000001.11:197427457:T:A p.(Tyr599Ter) NC_000001.11:197427457:T:A Identity +NM_001145847.2:c.2387dup NP_001139319.1:p.Leu796fs NC_000004.12:15980496:AAAAA:AAAAAA p.(Leu796PhefsTer13) NC_000004.12:15980496:AAAAA:AAAAAA p.(Leu796PhefsTer13) ERR:SPDI Analogous +NM_000435.3:c.2126G>A NP_000426.2:p.Cys709Tyr NC_000019.10:15185504:C:T p.(Cys709Tyr) NC_000019.10:15185504:C:T p.(Cys709Tyr) NC_000019.10:15185504:C:T Identity +NM_001204.7:c.2426dup NP_001195.2:p.Ala810fs NC_000002.12:202556090:T:TT p.(Ala810GlyfsTer3) NC_000002.12:202556090:T:TT p.(Ala810GlyfsTer3) ERR:SPDI Analogous +NM_001321120.2:c.40_49del NP_001308049.1:p.Phe14fs NC_000017.11:61456527:CCTTCCGGGCCC:CC p.(Phe14ArgfsTer28) NC_000017.11:61456527:CCTTCCGGGCCC:CC p.(Phe14ArgfsTer28) NC_000017.11:61456529:TTCCGGGCCC: Analogous +NM_015072.5:c.630C>A NP_055887.3:p.Tyr210Ter NC_000014.9:75707061:C:A p.(Tyr210Ter) NC_000014.9:75707061:C:A p.(Tyr210Ter) NC_000014.9:75707061:C:A Identity +NM_001378454.1:c.7786C>T NP_001365383.1:p.Gln2596Ter NC_000002.12:73489744:C:T p.(Gln2596Ter) NC_000002.12:73489744:C:T p.(Gln2596Ter) NC_000002.12:73489744:C:T Identity +NM_001330540.2:c.455dup NP_001317469.1:p.Thr153fs NC_000001.11:45508991:T:TT p.(Thr153AspfsTer35) NC_000001.11:45508991:T:TT p.(Thr153AspfsTer35) ERR:SPDI Analogous +NM_000443.4:c.2882_2883del NP_000434.1:p.Tyr961fs NC_000007.14:87411933:ATAT:AT p.(Tyr961SerfsTer38) NC_000007.14:87411933:ATAT:AT p.(Tyr961SerfsTer38) NC_000007.14:87411933:AT: Analogous +NM_001199107.2:c.901C>T NP_001186036.1:p.Gln301Ter NC_000016.10:2497048:C:T p.(Gln301Ter) NC_000016.10:2497048:C:T p.(Gln301Ter) NC_000016.10:2497048:C:T Identity +NM_016247.4:c.634del NP_057331.2:p.Ser212fs NC_000003.12:101275694:A: p.(Ser212GlnfsTer19) NC_000003.12:101275694:A: p.(Ser212GlnfsTer19) NC_000003.12:101275694:A: Analogous +NM_001394963.1:c.1869dup NP_001381892.1:p.His624fs NC_000003.12:27284881:A:AA p.(His624SerfsTer5) NC_000003.12:27284881:A:AA p.(His624SerfsTer5) ERR:SPDI Analogous +NM_000288.4:c.538_539del NP_000279.1:p.Leu180fs NC_000006.12:136866635:CTCT:CT p.(Leu180GlufsTer25) NC_000006.12:136866635:CTCT:CT p.(Leu180GlufsTer25) NC_000006.12:136866637:CT: Analogous +NM_153334.7:c.2045C>T NP_699165.3:p.Ala682Val NC_000022.11:20425945:G:A p.(Ala682Val) NC_000022.11:20425945:G:A p.(Ala682Val) NC_000022.11:20425945:G:A Identity +NM_001242795.2:c.1094A>G NP_001229724.1:p.His365Arg NC_000016.10:56833331:A:G p.(His365Arg) NC_000016.10:56833331:A:G p.(His365Arg) NC_000016.10:56833331:A:G Identity +NM_001127671.2:c.274C>T NP_001121143.1:p.Gln92Ter NC_000005.10:38527277:G:A p.(Gln92Ter) NC_000005.10:38527277:G:A p.(Gln92Ter) NC_000005.10:38527277:G:A Identity +NM_022095.4:c.3589C>T NP_071378.1:p.Gln1197Ter NC_000020.11:45949967:G:A p.(Gln1197Ter) NC_000020.11:45949967:G:A p.(Gln1197Ter) NC_000020.11:45949967:G:A Identity +NM_000260.4:c.1085_1086del NP_000251.3:p.Asn362fs NC_000011.10:77160166:AC: p.(Asn362ThrfsTer10) NC_000011.10:77160166:AC: p.(Asn362ThrfsTer10) NC_000011.10:77160166:AC: Analogous +NM_001254.4:c.206A>G NP_001245.1:p.His69Arg NC_000017.11:40291084:A:G p.(His69Arg) NC_000017.11:40291084:A:G p.(His69Arg) NC_000017.11:40291084:A:G Identity +NM_138694.4:c.5441dup NP_619639.3:p.His1814fs NC_000006.12:52017568:T:TT p.(His1814GlnfsTer7) NC_000006.12:52017568:T:TT p.(His1814GlnfsTer7) ERR:SPDI Analogous +NM_000441.2:c.1922del NP_000432.1:p.Asn641fs NC_000007.14:107701943:AA:A p.(Asn641ThrfsTer8) NC_000007.14:107701943:AA:A p.(Asn641ThrfsTer8) NC_000007.14:107701944:A: Analogous +NM_000466.3:c.1126del NP_000457.1:p.Glu376fs NC_000007.14:92517388:C: p.(Glu376LysfsTer11) NC_000007.14:92517388:C: p.(Glu376LysfsTer11) NC_000007.14:92517388:C: Analogous +NM_020964.3:c.2941G>A NP_066015.2:p.Asp981Asn NC_000018.10:45922497:C:T p.(Asp981Asn) NC_000018.10:45922497:C:T p.(Asp981Asn) NC_000018.10:45922497:C:T Identity +NM_003482.4:c.14867del NP_003473.3:p.Pro4956fs NC_000012.12:49027098:GGGG:GGG p.(Pro4956LeufsTer39) NC_000012.12:49027098:GGGG:GGG p.(Pro4956LeufsTer39) NC_000012.12:49027098:G: Analogous +NM_001165963.4:c.2295del NP_001159435.1:p.Met766fs NC_000002.12:166041350:C: p.(Met766TrpfsTer15) NC_000002.12:166041350:C: p.(Met766TrpfsTer15) NC_000002.12:166041350:C: Analogous +NM_015192.4:c.664C>T NP_056007.1:p.Arg222Ter NC_000020.11:8657252:C:T p.(Arg222Ter) NC_000020.11:8657252:C:T p.(Arg222Ter) NC_000020.11:8657252:C:T Identity +NM_001377456.1:c.685T>C NP_001364385.1:p.Tyr229His NC_000016.10:56506151:A:G p.(Tyr229His) NC_000016.10:56506151:A:G p.(Tyr229His) NC_000016.10:56506151:A:G Identity +NM_001042681.2:c.707A>G NP_001036146.1:p.Tyr236Cys NC_000001.11:8556492:T:C p.(Tyr236Cys) NC_000001.11:8556492:T:C p.(Tyr236Cys) NC_000001.11:8556492:T:C Identity +NM_001288715.1:c.1372_1373insGG NP_001275644.1:p.Asp458fs NC_000005.10:11236806:C:CCC p.(Asp458GlyfsTer8) NC_000005.10:11236805:T:CC p.(Asp458GlyfsTer8) NC_000005.10:11236806:TC:CC Analogous +NM_002016.2:c.63del NP_002007.1:p.Asp22fs NC_000001.11:152315393:TTTTTTT:TTTTTT p.(Asp22IlefsTer7) NC_000001.11:152315393:TTTTTTT:TTTTTT p.(Asp22IlefsTer7) NC_000001.11:152315393:T: Analogous +NM_001372044.2:c.4160_4161del NP_001358973.1:p.Glu1387fs NC_000022.11:50721765:AGAG:AG p.(Gly1387AlafsTer19) NC_000022.11:50721806:GC: p.(Gly1387AlafsTer19) NC_000022.11:50721806:GC: Analogous +NM_001145293.2:c.798del NP_001138765.1:p.Ser267fs NC_000003.12:25739659:GGG:GG p.(Ser267ValfsTer5) NC_000003.12:25739659:GGG:GG p.(Ser267ValfsTer5) NC_000003.12:25739659:G: Analogous +NM_000091.5:c.3644G>A NP_000082.2:p.Arg1215Gln NC_000002.12:227297751:G:A p.(Arg1215Gln) NC_000002.12:227297751:G:A p.(Arg1215Gln) NC_000002.12:227297751:G:A Identity +NM_001354723.2:c.459_476dup NP_001341652.1:p.Trp159Ter NC_000003.12:10142879:GAAGAGCCGACCGTGTGTG:GAAGAGCCGACCGTGTGTGAAGAGCCGACCGTGTGTG p.(Trp159Ter) NC_000003.12:10142879:GAAGAGCCGACCGTGTGTG:GAAGAGCCGACCGTGTGTGAAGAGCCGACCGTGTGTG p.(Trp159Ter) ERR:SPDI Identity +NM_003970.4:c.621C>G NP_003961.3:p.Ser207Arg NC_000008.11:2059212:C:G p.(Ser207Arg) NC_000008.11:2059212:C:G p.(Ser207Arg) NC_000008.11:2059212:C:G Identity +NM_001362843.2:c.3407dup NP_001349772.1:p.Tyr1136Ter NC_000022.11:41157391:A:AA p.(Tyr1136Ter) NC_000022.11:41157391:A:AA p.(Tyr1136Ter) ERR:SPDI Identity +NM_020971.3:c.6433G>A NP_066022.2:p.Ala2145Thr NC_000019.10:40567758:G:A p.(Ala2145Thr) NC_000019.10:40567758:G:A p.(Ala2145Thr) NC_000019.10:40567758:G:A Identity +NM_001206999.2:c.2777A>C NP_001193928.1:p.Gln926Pro NC_000012.12:119752176:T:G p.(Gln926Pro) NC_000012.12:119752176:T:G p.(Gln926Pro) NC_000012.12:119752176:T:G Identity +NM_002332.3:c.13559C>G NP_002323.2:p.Ser4520Cys NC_000012.12:57212478:C:G p.(Ser4520Cys) NC_000012.12:57212478:C:G p.(Ser4520Cys) NC_000012.12:57212478:C:G Identity +NM_001277269.2:c.2239C>A NP_001264198.1:p.Pro747Thr NC_000011.10:17573199:C:A p.(Pro747Thr) NC_000011.10:17573199:C:A p.(Pro747Thr) NC_000011.10:17573199:C:A Identity +NM_001145288.2:c.27_30del NP_001138760.1:p.Phe9fs NC_000012.12:100357417:CAAA: p.(Phe9LeufsTer5) NC_000012.12:100357417:CAAA: p.(Phe9LeufsTer5) NC_000012.12:100357417:CAAA: Analogous +NM_012079.6:c.5del NP_036211.2:p.Gly2fs NC_000008.11:144326631:CCC:CC p.(Gly2AlafsTer65) NC_000008.11:144326631:CCC:CC p.(Gly2AlafsTer65) NC_000008.11:144326631:C: Analogous +NM_212552.3:c.220_222del NP_997717.2:p.Glu74del NC_000002.12:74142307:CTCCT:CT p.(Glu74del) NC_000002.12:74142307:CTCCT:CT p.(Glu74del) NC_000002.12:74142307:CTC: Identity +NM_001378454.1:c.2617C>T NP_001365383.1:p.Gln873Ter NC_000002.12:73449143:C:T p.(Gln873Ter) NC_000002.12:73449143:C:T p.(Gln873Ter) NC_000002.12:73449143:C:T Identity +NM_016580.4:c.669dup NP_057664.1:p.Lys224fs NC_000005.10:141957182:GGGGGGG:GGGGGGGG p.(Lys224GlnfsTer16) NC_000005.10:141957182:GGGGGGG:GGGGGGGG p.(Lys224GlnfsTer16) ERR:SPDI Analogous +NM_001363725.2:c.2018del NP_001350654.1:p.Pro673fs NC_000006.12:157200737:CCCCC:CCCC p.(Pro673GlnfsTer65) NC_000006.12:157200737:CCCCC:CCCC p.(Pro673GlnfsTer65) NC_000006.12:157200741:C: Analogous +NM_152424.4:c.1100_1101insC NP_689637.3:p.Gly368fs NC_000023.11:64192186::G p.(Gly368ArgfsTer10) NC_000023.11:64192185:T:G p.(Gly368ArgfsTer10) NC_000023.11:64192186:TC:G Analogous +NM_001349608.2:c.4013_4014del NP_001336537.1:p.Glu1338fs NC_000001.11:7738398:AGAGAG:AGAG p.(Glu1338GlyfsTer11) NC_000001.11:7738398:AGAGAG:AGAG p.(Glu1338GlyfsTer11) NC_000001.11:7738402:AG: Analogous +NM_006516.4:c.178del NP_006507.2:p.Thr60fs NC_000001.11:42931142:T: p.(Thr60ArgfsTer18) NC_000001.11:42931142:T: p.(Thr60ArgfsTer18) NC_000001.11:42931142:T: Analogous +NM_005249.5:c.526_529dup NP_005240.3:p.Gly177fs NC_000014.9:28767803:GAACG:GAACGAACG p.(Gly177GlufsTer279) NC_000014.9:28767803:GAACG:GAACGAACG p.(Gly177GlufsTer279) ERR:SPDI Analogous +NM_001111125.3:c.4255dup NP_001104595.1:p.His1419fs NC_000023.11:53234430:GGGGG:GGGGGG p.(His1419ProfsTer188) NC_000023.11:53234430:GGGGG:GGGGGG p.(His1419ProfsTer188) ERR:SPDI Analogous +NM_004949.5:c.123del NP_004940.1:p.Lys42fs NC_000018.10:31093589:GG:G p.(Lys42AsnfsTer2) NC_000018.10:31093589:GG:G p.(Lys42AsnfsTer2) NC_000018.10:31093589:G: Analogous +LRG_843t1:c.49_62del LRG_843p1:p.Thr17fs NC_000023.11:100408535:GCGGCAGCCTGCGT: ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:Data provider error: ValueError: Transcript LRG_843t1 not found ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_843t1, alt_ac=LRG_843t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_843t1 not found +NM_000390.4:c.42_47delinsGGGAA NP_000381.1:p.Ile14fs NC_000023.11:86047485:GTCCCT:TTCCC p.(Ile14MetfsTer46) NC_000023.11:86047485:GTCCCT:TTCCC p.(Ile14MetfsTer46) NC_000023.11:86047485:GTCCCT:TTCCC Analogous +NM_014727.3:c.648_649insA NP_055542.1:p.Arg217fs NC_000019.10:35719995::A p.(Arg217ThrfsTer35) NC_000019.10:35719994:C:A p.(Arg217ThrfsTer35) NC_000019.10:35719995:CC:A Analogous +NM_001193455.2:c.247_251del NP_001180384.1:p.Tyr83fs NC_000005.10:6632601:TTGTA: p.(Tyr83LysfsTer4) NC_000005.10:6632601:TTGTA: p.(Tyr83LysfsTer4) NC_000005.10:6632601:TTGTA: Analogous +NM_001256182.2:c.2536del NP_001243111.1:p.Ser846fs NC_000016.10:89284005:A: p.(Ser846ProfsTer17) NC_000016.10:89284005:A: p.(Ser846ProfsTer17) NC_000016.10:89284005:A: Analogous +NM_001322151.2:c.60del NP_001309080.1:p.Leu21fs NC_000015.10:56919972:A: p.(Leu21TrpfsTer66) NC_000015.10:56919972:A: p.(Leu21TrpfsTer66) NC_000015.10:56919972:A: Analogous +NM_000427.3:c.673dup NP_000418.2:p.Tyr225fs NC_000001.11:153261620:TT:TTT p.(Tyr225LeufsTer111) NC_000001.11:153261620:TT:TTT p.(Tyr225LeufsTer111) ERR:SPDI Analogous +NM_001304815.2:c.2954delinsTGTCCCCAGAACCT NP_001291744.1:p.Glu985fs NC_000019.10:42287014:A:TGTCCCCAGAACCT p.(Glu985ValfsTer12) NC_000019.10:42287014:A:TGTCCCCAGAACCT p.(Glu985ValfsTer12) NC_000019.10:42287014:A:TGTCCCCAGAACCT Analogous +NM_025114.4:c.5580del NP_079390.3:p.Leu1861fs NC_000012.12:88077702:T: p.(Leu1861TyrfsTer6) NC_000012.12:88077702:T: p.(Leu1861TyrfsTer6) NC_000012.12:88077702:T: Analogous +NM_001127366.3:c.616dup NP_001120838.1:p.Ile206fs NC_000002.12:222232250:T:TT p.(Ile206AsnfsTer2) NC_000002.12:222232250:T:TT p.(Ile206AsnfsTer2) ERR:SPDI Analogous +NM_001256182.2:c.7114dup NP_001243111.1:p.Arg2372fs NC_000016.10:89279427:GGG:GGGG p.(Arg2372ProfsTer160) NC_000016.10:89279427:GGG:GGGG p.(Arg2372ProfsTer160) ERR:SPDI Analogous +NM_001243251.2:c.625C>T NP_001230180.1:p.Arg209Ter NC_000011.10:78436797:G:A p.(Arg209Ter) NC_000011.10:78436797:G:A p.(Arg209Ter) NC_000011.10:78436797:G:A Identity +NM_014208.3:c.2525del NP_055023.2:p.Ser842fs NC_000004.12:87615186:G: p.(Ser842ThrfsTer472) NC_000004.12:87615186:G: p.(Ser842ThrfsTer472) NC_000004.12:87615186:G: Analogous +NM_000179.3:c.103G>T NP_000170.1:p.Ala35Ser NC_000002.12:47783335:G:T p.(Ala35Ser) NC_000002.12:47783335:G:T p.(Ala35Ser) NC_000002.12:47783335:G:T Identity +NM_001048171.2:c.1040G>A NP_001041636.2:p.Cys347Tyr NC_000001.11:45331722:C:T p.(Cys347Tyr) NC_000001.11:45331722:C:T p.(Cys347Tyr) NC_000001.11:45331722:C:T Identity +NM_130466.4:c.730C>T NP_569733.2:p.Gln244Ter NC_000012.12:109497833:C:T p.(Gln244Ter) NC_000012.12:109497833:C:T p.(Gln244Ter) NC_000012.12:109497833:C:T Identity +NM_000545.8:c.864delinsCC NP_000536.6:p.Gly292fs NC_000012.12:120994313:G:CC p.(Gly292ArgfsTer25) NC_000012.12:120994311:GGG:GGCC p.(Gly292ArgfsTer25) NC_000012.12:120994313:G:CC Analogous +NM_001318827.2:c.1198G>C NP_001305756.1:p.Ala400Pro NC_000016.10:2062547:G:C p.(Ala400Pro) NC_000016.10:2062547:G:C p.(Ala400Pro) NC_000016.10:2062547:G:C Identity +NM_024642.5:c.1310A>G NP_078918.3:p.His437Arg NC_000009.12:98840098:A:G p.(His437Arg) NC_000009.12:98840098:A:G p.(His437Arg) NC_000009.12:98840098:A:G Identity +NM_001193465.2:c.608_611dup NP_001180394.1:p.Met205fs NC_000017.11:46171532:CCCCCC:CCCCCCCCCC p.(Met205GlyfsTer10) NC_000017.11:46171532:CCCCCC:CCCCCCCCCC p.(Met205GlyfsTer10) ERR:SPDI Analogous +NM_006734.4:c.3188dup NP_006725.3:p.Ala1064fs NC_000006.12:142771550:CCC:CCCC p.(Ala1064SerfsTer122) NC_000006.12:142771550:CCC:CCCC p.(Ala1064SerfsTer122) ERR:SPDI Analogous +NM_000280.6:c.1200del NP_000271.1:p.Val401fs NC_000011.10:31790002:A: p.(Val401CysfsTer124) NC_000011.10:31790002:A: p.(Val401CysfsTer124) NC_000011.10:31790002:A: Analogous +NM_001278055.2:c.7899del NP_001264984.1:p.His2634fs NC_000013.11:23335535:AAA:AA p.(His2634MetfsTer4) NC_000013.11:23335535:AAA:AA p.(His2634MetfsTer4) NC_000013.11:23335535:A: Analogous +NM_001256182.2:c.6165del NP_001243111.1:p.Tyr2056fs NC_000016.10:89280376:GGG:GG p.(Tyr2056ThrfsTer31) NC_000016.10:89280376:GGG:GG p.(Tyr2056ThrfsTer31) NC_000016.10:89280376:G: Analogous +NM_001099400.2:c.546del NP_001092870.1:p.Gly185fs NC_000007.14:94618873:G: p.(Gly185AlafsTer3) NC_000007.14:94618873:G: p.(Gly185AlafsTer3) NC_000007.14:94618873:G: Analogous +NM_001029882.3:c.1289del NP_001025053.1:p.Pro430fs NC_000001.11:27550826:GGGGG:GGGG p.(Pro430HisfsTer22) NC_000001.11:27550826:GGGGG:GGGG p.(Pro430HisfsTer22) NC_000001.11:27550826:G: Analogous +NM_004518.6:c.1796del NP_004509.2:p.Glu599fs NC_000020.11:63408419:T: p.(Glu599GlyfsTer15) NC_000020.11:63408419:T: p.(Glu599GlyfsTer15) NC_000020.11:63408419:T: Analogous +NM_001291415.2:c.2067_2074del NP_001278344.1:p.Asn690fs NC_000023.11:45063804:TAACTCCA: p.(Asn690SerfsTer15) NC_000023.11:45063804:TAACTCCA: p.(Asn690SerfsTer15) NC_000023.11:45063804:TAACTCCA: Analogous +NM_005732.4:c.1361A>C NP_005723.2:p.Gln454Pro NC_000005.10:132589745:A:C p.(Gln454Pro) NC_000005.10:132589745:A:C p.(Gln454Pro) NC_000005.10:132589745:A:C Identity +NM_000308.4:c.735del NP_000299.3:p.Lys245fs NC_000020.11:45894029:G: p.(Lys245AsnfsTer13) NC_000020.11:45894029:G: p.(Lys245AsnfsTer13) NC_000020.11:45894029:G: Analogous +NM_001127231.3:c.2271dup NP_001120703.1:p.Ser758fs NC_000007.14:70787239:CCCC:CCCCC p.(Ser758GlnfsTer6) NC_000007.14:70787239:CCCC:CCCCC p.(Ser758GlnfsTer6) ERR:SPDI Analogous +NM_000238.4:c.2779_2786dup NP_000229.1:p.Glu929fs NC_000007.14:150947784:TCCCCCCA:TCCCCCCATCCCCCCA p.(Glu929AspfsTer48) NC_000007.14:150947784:TCCCCCCA:TCCCCCCATCCCCCCA p.(Glu929AspfsTer48) ERR:SPDI Analogous +NM_000516.7:c.801_802dup NP_000507.1:p.Glu268fs NC_000020.11:58909765:GG:GGGG p.(Glu268GlyfsTer4) NC_000020.11:58909765:GG:GGGG p.(Glu268GlyfsTer4) ERR:SPDI Analogous +NM_001321120.2:c.636del NP_001308049.1:p.Ala213fs NC_000017.11:61478712:T: p.(Ala213LeufsTer15) NC_000017.11:61478712:T: p.(Ala213LeufsTer15) NC_000017.11:61478712:T: Analogous +NM_001317184.2:c.1364T>G NP_001304113.1:p.Phe455Cys NC_000016.10:68815740:T:G p.(Phe455Cys) NC_000016.10:68815740:T:G p.(Phe455Cys) NC_000016.10:68815740:T:G Identity +NM_001290187.2:c.742T>C NP_001277116.1:p.Cys248Arg NC_000007.14:149722823:T:C p.(Cys248Arg) NC_000007.14:149722823:T:C p.(Cys248Arg) NC_000007.14:149722823:T:C Identity +NM_000245.4:c.1699A>G NP_000236.2:p.Lys567Glu NC_000007.14:116741022:A:G p.(Lys567Glu) NC_000007.14:116741022:A:G p.(Lys567Glu) NC_000007.14:116741022:A:G Identity +NM_024675.4:c.1688A>C NP_078951.2:p.Lys563Thr NC_000016.10:23630465:T:G p.(Lys563Thr) NC_000016.10:23630465:T:G p.(Lys563Thr) NC_000016.10:23630465:T:G Identity +NM_000548.5:c.1306C>A NP_000539.2:p.Pro436Thr NC_000016.10:2062544:C:A p.(Pro436Thr) NC_000016.10:2062544:C:A p.(Pro436Thr) NC_000016.10:2062544:C:A Identity +NM_000136.3:c.1151A>G NP_000127.2:p.His384Arg NC_000009.12:95114631:T:C p.(His384Arg) NC_000009.12:95114631:T:C p.(His384Arg) NC_000009.12:95114631:T:C Identity +NM_003079.5:c.1226A>G NP_003070.3:p.Lys409Arg NC_000017.11:40628794:T:C p.(Lys409Arg) NC_000017.11:40628794:T:C p.(Lys409Arg) NC_000017.11:40628794:T:C Identity +NM_000038.6:c.1703G>A NP_000029.2:p.Ser568Asn NC_000005.10:112828931:G:A p.(Ser568Asn) NC_000005.10:112828931:G:A p.(Ser568Asn) NC_000005.10:112828931:G:A Identity +NM_000321.3:c.175_177delinsCCT NP_000312.2:p.Ala59Pro NC_000013.11:48307316:GCA:CCT p.(Ala59Pro) NC_000013.11:48307316:GCA:CCT p.(Ala59Pro) NC_000013.11:48307316:GCA:CCT Identity +NM_000251.3:c.1792_1796del NP_000242.1:p.Val598fs NC_000002.12:47475055:TGTGTT:T p.(Val598SerfsTer44) NC_000002.12:47475055:TGTGTT:T p.(Val598SerfsTer44) NC_000002.12:47475056:GTGTT: Analogous +NM_001407571.1:c.1625G>T NP_001394500.1:p.Arg542Met NC_000017.11:43093692:C:A p.(Arg542Met) NC_000017.11:43093692:C:A p.(Arg542Met) NC_000017.11:43093692:C:A Identity +NM_000548.5:c.1840G>A NP_000539.2:p.Ala614Thr NC_000016.10:2071509:G:A p.(Ala614Thr) NC_000016.10:2071509:G:A p.(Ala614Thr) NC_000016.10:2071509:G:A Identity +NM_001128844.3:c.1426C>A NP_001122316.1:p.Leu476Ile NC_000019.10:10994833:C:A p.(Leu476Ile) NC_000019.10:10994833:C:A p.(Leu476Ile) NC_000019.10:10994833:C:A Identity +NM_001294332.2:c.149C>T NP_001281261.1:p.Ser50Phe NC_000005.10:223566:C:T p.(Ser50Phe) NC_000005.10:223566:C:T p.(Ser50Phe) NC_000005.10:223566:C:T Identity +NM_024675.4:c.1349del NP_078951.2:p.Asn450fs NC_000016.10:23635196:TTTTT:TTTT p.(Asn450IlefsTer2) NC_000016.10:23635196:TTTTT:TTTT p.(Asn450IlefsTer2) NC_000016.10:23635196:T: Analogous +NM_001354898.2:c.1256A>C NP_001341827.1:p.His419Pro NC_000005.10:112821913:A:C p.(His419Pro) NC_000005.10:112821913:A:C p.(His419Pro) NC_000005.10:112821913:A:C Identity +NM_000465.4:c.1331T>G NP_000456.2:p.Val444Gly NC_000002.12:214769295:A:C p.(Val444Gly) NC_000002.12:214769295:A:C p.(Val444Gly) NC_000002.12:214769295:A:C Identity +NM_032043.3:c.1394G>A NP_114432.2:p.Cys465Tyr NC_000017.11:61793675:C:T p.(Cys465Tyr) NC_000017.11:61793675:C:T p.(Cys465Tyr) NC_000017.11:61793675:C:T Identity +NM_000245.4:c.1577G>A NP_000236.2:p.Cys526Tyr NC_000007.14:116740900:G:A p.(Cys526Tyr) NC_000007.14:116740900:G:A p.(Cys526Tyr) NC_000007.14:116740900:G:A Identity +NM_003000.3:c.16_18delinsTCA NP_002991.2:p.Ala6Ser NC_000001.11:17054001:GGC:TGA p.(Ala6Ser) NC_000001.11:17054001:GGC:TGA p.(Ala6Ser) NC_000001.11:17054001:GGC:TGA Identity +NM_024642.5:c.1637A>G NP_078918.3:p.Lys546Arg NC_000009.12:98848982:A:G p.(Lys546Arg) NC_000009.12:98848982:A:G p.(Lys546Arg) NC_000009.12:98848982:A:G Identity +NM_000546.6:c.193A>G NP_000537.3:p.Arg65Gly NC_000017.11:7676175:T:C p.(Arg65Gly) NC_000017.11:7676175:T:C p.(Arg65Gly) NC_000017.11:7676175:T:C Identity +NM_000492.4:c.1258A>G NP_000483.3:p.Lys420Glu NC_000007.14:117548688:A:G p.(Lys420Glu) NC_000007.14:117548688:A:G p.(Lys420Glu) NC_000007.14:117548688:A:G Identity +NM_000455.5:c.1262G>A NP_000446.1:p.Ser421Asn NC_000019.10:1226606:G:A p.(Ser421Asn) NC_000019.10:1226606:G:A p.(Ser421Asn) NC_000019.10:1226606:G:A Identity +NM_000455.5:c.1277G>A NP_000446.1:p.Arg426Gln NC_000019.10:1226621:G:A p.(Arg426Gln) NC_000019.10:1226621:G:A p.(Arg426Gln) NC_000019.10:1226621:G:A Identity +NM_001042594.2:c.912del NP_001036059.1:p.Val305fs NC_000007.14:124841036:T: p.(Val305PhefsTer4) NC_000007.14:124841036:T: p.(Val305PhefsTer4) NC_000007.14:124841036:T: Analogous +NM_032043.3:c.1462_1465del NP_114432.2:p.Pro488fs NC_000017.11:61793604:TGGG: p.(Pro488PhefsTer37) NC_000017.11:61793604:TGGG: p.(Pro488PhefsTer37) NC_000017.11:61793604:TGGG: Analogous +NM_000245.4:c.146A>C NP_000236.2:p.Glu49Ala NC_000007.14:116699229:A:C p.(Glu49Ala) NC_000007.14:116699229:A:C p.(Glu49Ala) NC_000007.14:116699229:A:C Identity +NM_000143.4:c.167C>G NP_000134.2:p.Thr56Ser NC_000001.11:241517281:G:C p.(Thr56Ser) NC_000001.11:241517281:G:C p.(Thr56Ser) NC_000001.11:241517281:G:C Identity +NM_004329.3:c.202C>A NP_004320.2:p.Pro68Thr NC_000010.11:86890195:C:A p.(Pro68Thr) NC_000010.11:86890195:C:A p.(Pro68Thr) NC_000010.11:86890195:C:A Identity +NM_001128844.3:c.2127T>G NP_001122316.1:p.Asn709Lys NC_000019.10:11010383:T:G p.(Asn709Lys) NC_000019.10:11010383:T:G p.(Asn709Lys) NC_000019.10:11010383:T:G Identity +NM_000535.7:c.1826T>C NP_000526.2:p.Val609Ala NC_000007.14:5986938:A:G p.(Val609Ala) NC_000007.14:5986938:A:G p.(Val609Ala) NC_000007.14:5986938:A:G Identity +NM_000251.3:c.2245G>T NP_000242.1:p.Glu749Ter NC_000002.12:47478305:G:T p.(Glu749Ter) NC_000002.12:47478305:G:T p.(Glu749Ter) NC_000002.12:47478305:G:T Identity +NM_000249.4:c.2254G>C NP_000240.1:p.Val752Leu NC_000003.12:37050635:G:C p.(Val752Leu) NC_000003.12:37050635:G:C p.(Val752Leu) NC_000003.12:37050635:G:C Identity +NM_000323.2:c.2254T>G NP_000314.1:p.Tyr752Asp NC_000010.11:43116700:T:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000038.6:c.2304C>A NP_000029.2:p.His768Gln NC_000005.10:112837897:C:A p.(His768Gln) NC_000005.10:112837897:C:A p.(His768Gln) NC_000005.10:112837897:C:A Identity +NM_001195573.1:c.2297A>G NP_001182502.1:p.Gln766Arg NC_000014.9:95108462:T:C p.(Gln766Arg) NC_000014.9:95108462:T:C p.(Gln766Arg) NC_000014.9:95108462:T:C Identity +NM_005732.4:c.1953del NP_005723.2:p.Lys651fs NC_000005.10:132595023:AAAAA:AAAA p.(Lys651AsnfsTer23) NC_000005.10:132595023:AAAAA:AAAA p.(Lys651AsnfsTer23) NC_000005.10:132595027:A: Analogous +NM_032043.3:c.1987dup NP_114432.2:p.Thr663fs NC_000017.11:61776510:T:TT p.(Thr663AsnfsTer6) NC_000017.11:61776510:T:TT p.(Thr663AsnfsTer6) ERR:SPDI Analogous +NM_001290307.3:c.1994C>T NP_001277236.1:p.Ala665Val NC_000005.10:138929339:C:T p.(Ala665Val) NC_000005.10:138929339:C:T p.(Ala665Val) NC_000005.10:138929339:C:T Identity +NM_000548.5:c.2003G>A NP_000539.2:p.Gly668Glu NC_000016.10:2071839:G:A p.(Gly668Glu) NC_000016.10:2071839:G:A p.(Gly668Glu) NC_000016.10:2071839:G:A Identity +NM_000249.4:c.2001C>A NP_000240.1:p.Asp667Glu NC_000003.12:37048914:C:A p.(Asp667Glu) NC_000003.12:37048914:C:A p.(Asp667Glu) NC_000003.12:37048914:C:A Identity +NM_005732.4:c.2036C>T NP_005723.2:p.Ser679Leu NC_000005.10:132595638:C:T p.(Ser679Leu) NC_000005.10:132595638:C:T p.(Ser679Leu) NC_000005.10:132595638:C:T Identity +NM_000465.4:c.2030T>G NP_000456.2:p.Phe677Cys NC_000002.12:214728979:A:C p.(Phe677Cys) NC_000002.12:214728979:A:C p.(Phe677Cys) NC_000002.12:214728979:A:C Identity +NM_000321.3:c.233G>C NP_000312.2:p.Trp78Ser NC_000013.11:48307374:G:C p.(Trp78Ser) NC_000013.11:48307374:G:C p.(Trp78Ser) NC_000013.11:48307374:G:C Identity +NM_000057.4:c.2350T>A NP_000048.1:p.Tyr784Asn NC_000015.10:90769174:T:A p.(Tyr784Asn) NC_000015.10:90769174:T:A p.(Tyr784Asn) NC_000015.10:90769174:T:A Identity +NM_032043.3:c.2395C>G NP_114432.2:p.Gln799Glu NC_000017.11:61716047:G:C p.(Gln799Glu) NC_000017.11:61716047:G:C p.(Gln799Glu) NC_000017.11:61716047:G:C Identity +NM_000251.3:c.2427G>C NP_000242.1:p.Glu809Asp NC_000002.12:47478487:G:C p.(Glu809Asp) NC_000002.12:47478487:G:C p.(Glu809Asp) NC_000002.12:47478487:G:C Identity +NM_001162427.2:c.1470C>G NP_001155899.1:p.Asp490Glu NC_000009.12:132905954:G:C p.(Asp490Glu) NC_000009.12:132905954:G:C p.(Asp490Glu) NC_000009.12:132905954:G:C Identity +NM_000179.3:c.1627A>G NP_000170.1:p.Lys543Glu NC_000002.12:47799609:A:G p.(Lys543Glu) NC_000002.12:47799609:A:G p.(Lys543Glu) NC_000002.12:47799609:A:G Identity +NM_000264.5:c.1669A>G NP_000255.2:p.Thr557Ala NC_000009.12:95476092:T:C p.(Thr557Ala) NC_000009.12:95476092:T:C p.(Thr557Ala) NC_000009.12:95476092:T:C Identity +NM_000143.4:c.167C>T NP_000134.2:p.Thr56Ile NC_000001.11:241517281:G:A p.(Thr56Ile) NC_000001.11:241517281:G:A p.(Thr56Ile) NC_000001.11:241517281:G:A Identity +NM_000245.4:c.16G>T NP_000236.2:p.Val6Leu NC_000007.14:116699099:G:T p.(Val6Leu) NC_000007.14:116699099:G:T p.(Val6Leu) NC_000007.14:116699099:G:T Identity +NM_000268.4:c.1721A>G NP_000259.1:p.His574Arg NC_000022.11:29681584:A:G p.(His574Arg) NC_000022.11:29681584:A:G p.(His574Arg) NC_000022.11:29681584:A:G Identity +NM_002439.5:c.215C>T NP_002430.3:p.Pro72Leu NC_000005.10:80654941:C:T p.(Pro72Leu) NC_000005.10:80654941:C:T p.(Pro72Leu) NC_000005.10:80654941:C:T Identity +NM_005732.4:c.2660T>C NP_005723.2:p.Leu887Pro NC_000005.10:132604940:T:C p.(Leu887Pro) NC_000005.10:132604940:T:C p.(Leu887Pro) NC_000005.10:132604940:T:C Identity +NM_001195573.1:c.2707T>A NP_001182502.1:p.Ser903Thr NC_000014.9:95107704:A:T p.(Ser903Thr) NC_000014.9:95107704:A:T p.(Ser903Thr) NC_000014.9:95107704:A:T Identity +NM_001035511.3:c.146A>C NP_001030588.1:p.Asn49Thr NC_000001.11:161328463:A:C p.(Asn49Thr) NC_000001.11:161328463:A:C p.(Asn49Thr) NC_000001.11:161328463:A:C Identity +NM_006361.6:c.153G>T NP_006352.2:p.Leu51Phe NC_000017.11:48728440:C:A p.(Leu51Phe) NC_000017.11:48728440:C:A p.(Leu51Phe) NC_000017.11:48728440:C:A Identity +NM_001353229.2:c.176G>T NP_001340158.1:p.Arg59Leu NC_000017.11:17227961:C:A p.(Arg59Leu) NC_000017.11:17227961:C:A p.(Arg59Leu) NC_000017.11:17227961:C:A Identity +NM_000251.3:c.178A>G NP_000242.1:p.Thr60Ala NC_000002.12:47403368:A:G p.(Thr60Ala) NC_000002.12:47403368:A:G p.(Thr60Ala) NC_000002.12:47403368:A:G Identity +NM_000179.3:c.1862dup NP_000170.1:p.Ile622fs NC_000002.12:47799844:T:TT p.(Ile622AspfsTer18) NC_000002.12:47799844:T:TT p.(Ile622AspfsTer18) ERR:SPDI Analogous +NM_000548.5:c.2719G>A NP_000539.2:p.Asp907Asn NC_000016.10:2076146:G:A p.(Asp907Asn) NC_000016.10:2076146:G:A p.(Asp907Asn) NC_000016.10:2076146:G:A Identity +NM_000264.5:c.2851G>T NP_000255.2:p.Asp951Tyr NC_000009.12:95459635:C:A p.(Asp951Tyr) NC_000009.12:95459635:C:A p.(Asp951Tyr) NC_000009.12:95459635:C:A Identity +NM_024675.4:c.2296T>C NP_078951.2:p.Ser766Pro NC_000016.10:23629857:A:G p.(Ser766Pro) NC_000016.10:23629857:A:G p.(Ser766Pro) NC_000016.10:23629857:A:G Identity +NM_002876.4:c.240G>T NP_002867.1:p.Glu80Asp NC_000017.11:58695024:G:T p.(Glu80Asp) NC_000017.11:58695024:G:T p.(Glu80Asp) NC_000017.11:58695024:G:T Identity +NM_024675.4:c.2468T>C NP_078951.2:p.Leu823Pro NC_000016.10:23629685:A:G p.(Leu823Pro) NC_000016.10:23629685:A:G p.(Leu823Pro) NC_000016.10:23629685:A:G Identity +NM_000314.8:c.1036T>G NP_000305.3:p.Tyr346Asp NC_000010.11:87965295:T:G p.(Tyr346Asp) NC_000010.11:87965295:T:G p.(Tyr346Asp) NC_000010.11:87965295:T:G Identity +NM_024675.4:c.1070C>T NP_078951.2:p.Ser357Phe NC_000016.10:23635475:G:A p.(Ser357Phe) NC_000016.10:23635475:G:A p.(Ser357Phe) NC_000016.10:23635475:G:A Identity +NM_001048171.2:c.1042G>C NP_001041636.2:p.Val348Leu NC_000001.11:45331720:C:G p.(Val348Leu) NC_000001.11:45331720:C:G p.(Val348Leu) NC_000001.11:45331720:C:G Identity +NM_000323.2:c.2519A>G NP_000314.1:p.His840Arg NC_000010.11:43119656:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_002876.4:c.259G>A NP_002867.1:p.Ala87Thr NC_000017.11:58695043:G:A p.(Ala87Thr) NC_000017.11:58695043:G:A p.(Ala87Thr) NC_000017.11:58695043:G:A Identity +NM_002439.5:c.2965A>G NP_002430.3:p.Ile989Val NC_000005.10:80854280:A:G p.(Ile989Val) NC_000005.10:80854280:A:G p.(Ile989Val) NC_000005.10:80854280:A:G Identity +NM_000038.6:c.8411A>G NP_000029.2:p.Gln2804Arg NC_000005.10:112844004:A:G p.(Gln2804Arg) NC_000005.10:112844004:A:G p.(Gln2804Arg) NC_000005.10:112844004:A:G Identity +NM_003924.4:c.842C>A NP_003915.2:p.Thr281Asn NC_000004.12:41745909:G:T p.(Thr281Asn) NC_000004.12:41745909:G:T p.(Thr281Asn) NC_000004.12:41745909:G:T Identity +NM_032043.3:c.298A>G NP_114432.2:p.Met100Val NC_000017.11:61857138:T:C p.(Met100Val) NC_000017.11:61857138:T:C p.(Met100Val) NC_000017.11:61857138:T:C Identity +NM_001317184.2:c.1394G>T NP_001304113.1:p.Trp465Leu NC_000016.10:68819290:G:T p.(Trp465Leu) NC_000016.10:68819290:G:T p.(Trp465Leu) NC_000016.10:68819290:G:T Identity +NM_000051.4:c.274A>G NP_000042.3:p.Lys92Glu NC_000011.10:108229265:A:G p.(Lys92Glu) NC_000011.10:108229265:A:G p.(Lys92Glu) NC_000011.10:108229265:A:G Identity +NM_000264.5:c.2110A>G NP_000255.2:p.Ser704Gly NC_000009.12:95468890:T:C p.(Ser704Gly) NC_000009.12:95468890:T:C p.(Ser704Gly) NC_000009.12:95468890:T:C Identity +NM_001407952.1:c.1885G>A NP_001394881.1:p.Val629Met NC_000017.11:43093312:C:T p.(Val629Met) NC_000017.11:43093312:C:T p.(Val629Met) NC_000017.11:43093312:C:T Identity +NM_000179.3:c.3148G>A NP_000170.1:p.Ala1050Thr NC_000002.12:47801130:G:A p.(Ala1050Thr) NC_000002.12:47801130:G:A p.(Ala1050Thr) NC_000002.12:47801130:G:A Identity +NM_000059.4:c.3150del NP_000050.3:p.Leu1051fs NC_000013.11:32337503:CC:C p.(Leu1051TrpfsTer3) NC_000013.11:32337503:CC:C p.(Leu1051TrpfsTer3) NC_000013.11:32337504:C: Analogous +NM_024675.4:c.3170_3175delinsAATCA NP_078951.2:p.Ala1057fs NC_000016.10:23614029:CTGAAG:TGATT p.(Ala1057GlufsTer18) NC_000016.10:23614029:CTGAAGCT:CTTGATT p.(Ala1057GlufsTer18) NC_000016.10:23614029:CTGAAG:TGATT Analogous +NM_001407571.1:c.2983G>A NP_001394500.1:p.Glu995Lys NC_000017.11:43092334:C:T p.(Glu995Lys) NC_000017.11:43092334:C:T p.(Glu995Lys) NC_000017.11:43092334:C:T Identity +NM_005732.4:c.1073A>T NP_005723.2:p.Asp358Val NC_000005.10:132588707:A:T p.(Asp358Val) NC_000005.10:132588707:A:T p.(Asp358Val) NC_000005.10:132588707:A:T Identity +NM_001353229.2:c.1162A>G NP_001340158.1:p.Met388Val NC_000017.11:17217136:T:C p.(Met388Val) NC_000017.11:17217136:T:C p.(Met388Val) NC_000017.11:17217136:T:C Identity +NM_001193304.3:c.98C>T NP_001180233.1:p.Ser33Leu NC_000002.12:96265283:G:A p.(Ser33Leu) NC_000002.12:96265283:G:A p.(Ser33Leu) NC_000002.12:96265283:G:A Identity +NM_000455.5:c.990C>A NP_000446.1:p.Asp330Glu NC_000019.10:1223053:C:A p.(Asp330Glu) NC_000019.10:1223053:C:A p.(Asp330Glu) NC_000019.10:1223053:C:A Identity +NM_000249.4:c.99A>C NP_000240.1:p.Lys33Asn NC_000003.12:36993645:A:C p.(Lys33Asn) NC_000003.12:36993645:A:C p.(Lys33Asn) NC_000003.12:36993645:A:C Identity +NM_000251.3:c.2258G>A NP_000242.1:p.Gly753Glu NC_000002.12:47478318:G:A p.(Gly753Glu) NC_000002.12:47478318:G:A p.(Gly753Glu) NC_000002.12:47478318:G:A Identity +NM_000038.6:c.2303_2304insT NP_000029.2:p.Ser770fs NC_000005.10:112837897::T p.(Ser770IlefsTer5) NC_000005.10:112837896:A:T p.(Ser770IlefsTer5) NC_000005.10:112837897:AC:T Analogous +NM_024675.4:c.3361G>A NP_078951.2:p.Gly1121Ser NC_000016.10:23603658:C:T p.(Gly1121Ser) NC_000016.10:23603658:C:T p.(Gly1121Ser) NC_000016.10:23603658:C:T Identity +NM_001276289.2:c.250C>T NP_001263218.1:p.Pro84Ser NC_000017.11:68522827:C:T p.(Pro84Ser) NC_000017.11:68522827:C:T p.(Pro84Ser) NC_000017.11:68522827:C:T Identity +NM_001195573.1:c.256_257del NP_001182502.1:p.Arg86fs NC_000014.9:95132564:CT: p.(Arg86GlyfsTer58) NC_000014.9:95132564:CT: p.(Arg86GlyfsTer58) NC_000014.9:95132564:CT: Analogous +NM_001048171.2:c.282C>A NP_001041636.2:p.Asp94Glu NC_000001.11:45333306:G:T p.(Asp94Glu) NC_000001.11:45333306:G:T p.(Asp94Glu) NC_000001.11:45333306:G:T Identity +NM_001347827.2:c.373G>T NP_001334756.1:p.Asp125Tyr NC_000004.12:54263671:G:T p.(Asp125Tyr) NC_000004.12:54263671:G:T p.(Asp125Tyr) NC_000004.12:54263671:G:T Identity +NM_002439.5:c.29G>C NP_002430.3:p.Gly10Ala NC_000005.10:80654755:G:C p.(Gly10Ala) NC_000005.10:80654755:G:C p.(Gly10Ala) NC_000005.10:80654755:G:C Identity +NM_000551.4:c.271T>C NP_000542.1:p.Phe91Leu NC_000003.12:10142117:T:C p.(Phe91Leu) NC_000003.12:10142117:T:C p.(Phe91Leu) NC_000003.12:10142117:T:C Identity +NM_000057.4:c.2732A>G NP_000048.1:p.Asp911Gly NC_000015.10:90784989:A:G p.(Asp911Gly) NC_000015.10:90784989:A:G p.(Asp911Gly) NC_000015.10:90784989:A:G Identity +NM_005732.4:c.2755T>A NP_005723.2:p.Leu919Met NC_000005.10:132608650:T:A p.(Leu919Met) NC_000005.10:132608650:T:A p.(Leu919Met) NC_000005.10:132608650:T:A Identity +NM_000268.4:c.281T>G NP_000259.1:p.Phe94Cys NC_000022.11:29639129:T:G p.(Phe94Cys) NC_000022.11:29639129:T:G p.(Phe94Cys) NC_000022.11:29639129:T:G Identity +NM_024675.4:c.1814C>G NP_078951.2:p.Ser605Cys NC_000016.10:23630339:G:C p.(Ser605Cys) NC_000016.10:23630339:G:C p.(Ser605Cys) NC_000016.10:23630339:G:C Identity +NM_004655.4:c.1879G>A NP_004646.3:p.Glu627Lys NC_000017.11:65536896:C:T p.(Glu627Lys) NC_000017.11:65536896:C:T p.(Glu627Lys) NC_000017.11:65536896:C:T Identity +NM_001193304.3:c.380G>A NP_001180233.1:p.Arg127His NC_000002.12:96254861:C:T p.(Arg127His) NC_000002.12:96254861:C:T p.(Arg127His) NC_000002.12:96254861:C:T Identity +NM_000548.5:c.3898A>G NP_000539.2:p.Met1300Val NC_000016.10:2083708:A:G p.(Met1300Val) NC_000016.10:2083708:A:G p.(Met1300Val) NC_000016.10:2083708:A:G Identity +NM_001407661.1:c.3852C>A NP_001394590.1:p.Asn1284Lys NC_000017.11:43091597:G:T p.(Asn1284Lys) NC_000017.11:43091597:G:T p.(Asn1284Lys) NC_000017.11:43091597:G:T Identity +NM_000051.4:c.3972T>A NP_000042.3:p.Ser1324Arg NC_000011.10:108284451:T:A p.(Ser1324Arg) NC_000011.10:108284451:T:A p.(Ser1324Arg) NC_000011.10:108284451:T:A Identity +NM_001330347.2:c.910G>A NP_001317276.1:p.Val304Met NC_000011.10:94470577:C:T p.(Val304Met) NC_000011.10:94470577:C:T p.(Val304Met) NC_000011.10:94470577:C:T Identity +NM_000059.4:c.910G>T NP_000050.3:p.Glu304Ter NC_000013.11:32332387:G:T p.(Glu304Ter) NC_000013.11:32332387:G:T p.(Glu304Ter) NC_000013.11:32332387:G:T Identity +NM_000368.5:c.931C>A NP_000359.1:p.Pro311Thr NC_000009.12:132911550:G:T p.(Pro311Thr) NC_000009.12:132911550:G:T p.(Pro311Thr) NC_000009.12:132911550:G:T Identity +NM_000535.7:c.933C>G NP_000526.2:p.His311Gln NC_000007.14:5992027:G:C p.(His311Gln) NC_000007.14:5992027:G:C p.(His311Gln) NC_000007.14:5992027:G:C Identity +NM_032043.3:c.3215C>T NP_114432.2:p.Thr1072Ile NC_000017.11:61683830:G:A p.(Thr1072Ile) NC_000017.11:61683830:G:A p.(Thr1072Ile) NC_000017.11:61683830:G:A Identity +NM_001195573.1:c.1996A>G NP_001182502.1:p.Thr666Ala NC_000014.9:95113135:T:C p.(Thr666Ala) NC_000014.9:95113135:T:C p.(Thr666Ala) NC_000014.9:95113135:T:C Identity +NM_000535.7:c.2004A>G NP_000526.2:p.Ile668Met NC_000007.14:5986760:T:C p.(Ile668Met) NC_000007.14:5986760:T:C p.(Ile668Met) NC_000007.14:5986760:T:C Identity +NM_001276504.2:c.92G>C NP_001263433.1:p.Arg31Thr NC_000011.10:112088905:G:C p.(Arg31Thr) NC_000011.10:112088905:G:C p.(Arg31Thr) NC_000011.10:112088905:G:C Identity +NM_005732.4:c.979C>G NP_005723.2:p.Arg327Gly NC_000005.10:132588016:C:G p.(Arg327Gly) NC_000005.10:132588016:C:G p.(Arg327Gly) NC_000005.10:132588016:C:G Identity +NM_000136.3:c.338G>A NP_000127.2:p.Trp113Ter NC_000009.12:95240655:C:T p.(Trp113Ter) NC_000009.12:95240655:C:T p.(Trp113Ter) NC_000009.12:95240655:C:T Identity +NM_000535.7:c.296C>G NP_000526.2:p.Thr99Ser NC_000007.14:6003746:G:C p.(Thr99Ser) NC_000007.14:6003746:G:C p.(Thr99Ser) NC_000007.14:6003746:G:C Identity +NM_032043.3:c.844A>T NP_114432.2:p.Thr282Ser NC_000017.11:61808540:T:A p.(Thr282Ser) NC_000017.11:61808540:T:A p.(Thr282Ser) NC_000017.11:61808540:T:A Identity +NM_000251.3:c.2220_2223dup NP_000242.1:p.Asp742fs NC_000002.12:47478280:CAAA:CAAACAAA p.(Asp742GlnfsTer9) NC_000002.12:47478280:CAAA:CAAACAAA p.(Asp742GlnfsTer9) ERR:SPDI Analogous +NM_024642.5:c.344GCC[1] NP_078918.3:p.Arg116del NC_000009.12:98808039:CCGCCGCC:CCGCC p.(Arg116del) NC_000009.12:98808041:G:GCC ERR:Parse ERR:Parse Identity +NM_001128844.3:c.3559C>T NP_001122316.1:p.Gln1187Ter NC_000019.10:11033301:C:T p.(Gln1187Ter) NC_000019.10:11033301:C:T p.(Gln1187Ter) NC_000019.10:11033301:C:T Identity +NM_000057.4:c.880G>A NP_000048.1:p.Asp294Asn NC_000015.10:90751866:G:A p.(Asp294Asn) NC_000015.10:90751866:G:A p.(Asp294Asn) NC_000015.10:90751866:G:A Identity +NM_017841.4:c.235A>G NP_060311.1:p.Met79Val NC_000011.10:61437822:A:G p.(Met79Val) NC_000011.10:61437822:A:G p.(Met79Val) NC_000011.10:61437822:A:G Identity +NM_000179.3:c.2430_2440del NP_000170.1:p.Leu811fs NC_000002.12:47800409:AGAGCTTCTAAAGA:AGA p.(Leu811AlafsTer5) NC_000002.12:47800409:AGAGCTTCTAAAGA:AGA p.(Leu811AlafsTer5) NC_000002.12:47800412:GCTTCTAAAGA: Analogous +NM_000051.4:c.3648T>G NP_000042.3:p.Tyr1216Ter NC_000011.10:108282780:T:G p.(Tyr1216Ter) NC_000011.10:108282780:T:G p.(Tyr1216Ter) NC_000011.10:108282780:T:G Identity +NM_003000.3:c.365A>G NP_002991.2:p.Asn122Ser NC_000001.11:17028657:T:C p.(Asn122Ser) NC_000001.11:17028657:T:C p.(Asn122Ser) NC_000001.11:17028657:T:C Identity +NM_000057.4:c.3743A>G NP_000048.1:p.Lys1248Arg NC_000015.10:90804350:A:G p.(Lys1248Arg) NC_000015.10:90804350:A:G p.(Lys1248Arg) NC_000015.10:90804350:A:G Identity +NM_000051.4:c.3829G>C NP_000042.3:p.Glu1277Gln NC_000011.10:108284308:G:C p.(Glu1277Gln) NC_000011.10:108284308:G:C p.(Glu1277Gln) NC_000011.10:108284308:G:C Identity +NM_000059.4:c.253G>A NP_000050.3:p.Gly85Arg NC_000013.11:32319261:G:A p.(Gly85Arg) NC_000013.11:32319261:G:A p.(Gly85Arg) NC_000013.11:32319261:G:A Identity +NM_000051.4:c.2545G>T NP_000042.3:p.Val849Leu NC_000011.10:108267248:G:T p.(Val849Leu) NC_000011.10:108267248:G:T p.(Val849Leu) NC_000011.10:108267248:G:T Identity +NM_000038.6:c.2635C>G NP_000029.2:p.Gln879Glu NC_000005.10:112838228:C:G p.(Gln879Glu) NC_000005.10:112838228:C:G p.(Gln879Glu) NC_000005.10:112838228:C:G Identity +NM_000264.5:c.899C>T NP_000255.2:p.Ala300Val NC_000009.12:95480435:G:A p.(Ala300Val) NC_000009.12:95480435:G:A p.(Ala300Val) NC_000009.12:95480435:G:A Identity +NM_000057.4:c.3137G>T NP_000048.1:p.Gly1046Val NC_000015.10:90794283:G:T p.(Gly1046Val) NC_000015.10:90794283:G:T p.(Gly1046Val) NC_000015.10:90794283:G:T Identity +NM_001128844.3:c.316A>G NP_001122316.1:p.Met106Val NC_000019.10:10985365:A:G p.(Met106Val) NC_000019.10:10985365:A:G p.(Met106Val) NC_000019.10:10985365:A:G Identity +NM_000251.3:c.2746A>C NP_000242.1:p.Ile916Leu NC_000002.12:47482889:A:C p.(Ile916Leu) NC_000002.12:47482889:A:C p.(Ile916Leu) NC_000002.12:47482889:A:C Identity +NM_001024688.3:c.31T>G NP_001019859.1:p.Ser11Ala NC_000008.11:89981417:A:C p.(Ser11Ala) NC_000008.11:89981417:A:C p.(Ser11Ala) NC_000008.11:89981417:A:C Identity +NM_001407571.1:c.2648del NP_001394500.1:p.Leu883fs NC_000017.11:43092669:A: p.(Leu883HisfsTer46) NC_000017.11:43092669:A: p.(Leu883HisfsTer46) NC_000017.11:43092669:A: Analogous +NM_000059.4:c.954A>C NP_000050.3:p.Lys318Asn NC_000013.11:32332431:A:C p.(Lys318Asn) NC_000013.11:32332431:A:C p.(Lys318Asn) NC_000013.11:32332431:A:C Identity +NM_000051.4:c.1084A>G NP_000042.3:p.Arg362Gly NC_000011.10:108248950:A:G p.(Arg362Gly) NC_000011.10:108248950:A:G p.(Arg362Gly) NC_000011.10:108248950:A:G Identity +NM_000179.3:c.109G>C NP_000170.1:p.Ala37Pro NC_000002.12:47783341:G:C p.(Ala37Pro) NC_000002.12:47783341:G:C p.(Ala37Pro) NC_000002.12:47783341:G:C Identity +NM_000059.4:c.9911G>C NP_000050.3:p.Cys3304Ser NC_000013.11:32398423:G:C p.(Cys3304Ser) NC_000013.11:32398423:G:C p.(Cys3304Ser) NC_000013.11:32398423:G:C Identity +NM_000264.5:c.3325G>A NP_000255.2:p.Gly1109Ser NC_000009.12:95453601:C:T p.(Gly1109Ser) NC_000009.12:95453601:C:T p.(Gly1109Ser) NC_000009.12:95453601:C:T Identity +NM_005732.4:c.2952del NP_005723.2:p.Ile984fs NC_000005.10:132609311:A: p.(Ile984MetfsTer4) NC_000005.10:132609311:A: p.(Ile984MetfsTer4) NC_000005.10:132609311:A: Analogous +NM_006361.6:c.847A>G NP_006352.2:p.Thr283Ala NC_000017.11:48726797:T:C p.(Thr283Ala) NC_000017.11:48726797:T:C p.(Thr283Ala) NC_000017.11:48726797:T:C Identity +NM_000548.5:c.3505G>A NP_000539.2:p.Ala1169Thr NC_000016.10:2080271:G:A p.(Ala1169Thr) NC_000016.10:2080271:G:A p.(Ala1169Thr) NC_000016.10:2080271:G:A Identity +NM_000548.5:c.355C>T NP_000539.2:p.Leu119Phe NC_000016.10:2054313:C:T p.(Leu119Phe) NC_000016.10:2054313:C:T p.(Leu119Phe) NC_000016.10:2054313:C:T Identity +NM_005732.4:c.3007C>T NP_005723.2:p.Leu1003Phe NC_000005.10:132609366:C:T p.(Leu1003Phe) NC_000005.10:132609366:C:T p.(Leu1003Phe) NC_000005.10:132609366:C:T Identity +NM_005732.4:c.3055C>T NP_005723.2:p.Gln1019Ter NC_000005.10:132616020:C:T p.(Gln1019Ter) NC_000005.10:132616020:C:T p.(Gln1019Ter) NC_000005.10:132616020:C:T Identity +NM_000051.4:c.886A>G NP_000042.3:p.Lys296Glu NC_000011.10:108245010:A:G p.(Lys296Glu) NC_000011.10:108245010:A:G p.(Lys296Glu) NC_000011.10:108245010:A:G Identity +NM_001330758.2:c.382A>G NP_001317687.1:p.Lys128Glu NC_000005.10:225487:A:G p.(Lys128Glu) NC_000005.10:225487:A:G p.(Lys128Glu) NC_000005.10:225487:A:G Identity +NM_006231.4:c.3844C>T NP_006222.2:p.Gln1282Ter NC_000012.12:132649466:G:A p.(Gln1282Ter) NC_000012.12:132649466:G:A p.(Gln1282Ter) NC_000012.12:132649466:G:A Identity +NM_000455.5:c.388G>T NP_000446.1:p.Glu130Ter NC_000019.10:1219336:G:T p.(Glu130Ter) NC_000019.10:1219336:G:T p.(Glu130Ter) NC_000019.10:1219336:G:T Identity +NM_000249.4:c.38A>G NP_000240.1:p.Glu13Gly NC_000003.12:36993584:A:G p.(Glu13Gly) NC_000003.12:36993584:A:G p.(Glu13Gly) NC_000003.12:36993584:A:G Identity +NM_024675.4:c.918T>G NP_078951.2:p.Asn306Lys NC_000016.10:23635627:A:C p.(Asn306Lys) NC_000016.10:23635627:A:C p.(Asn306Lys) NC_000016.10:23635627:A:C Identity +NM_001128844.3:c.3962T>G NP_001122316.1:p.Leu1321Arg NC_000019.10:11034923:T:G p.(Leu1321Arg) NC_000019.10:11034923:T:G p.(Leu1321Arg) NC_000019.10:11034923:T:G Identity +NM_001347828.2:c.3305G>A NP_001334757.1:p.Gly1102Asp NC_000004.12:54295231:G:A p.(Gly1102Asp) NC_000004.12:54295231:G:A p.(Gly1102Asp) NC_000004.12:54295231:G:A Identity +NM_000179.3:c.3450A>T NP_000170.1:p.Leu1150Phe NC_000002.12:47804920:A:T p.(Leu1150Phe) NC_000002.12:47804920:A:T p.(Leu1150Phe) NC_000002.12:47804920:A:T Identity +NM_017841.4:c.352A>G NP_060311.1:p.Ile118Val NC_000011.10:61438094:A:G p.(Ile118Val) NC_000011.10:61438094:A:G p.(Ile118Val) NC_000011.10:61438094:A:G Identity +NM_000179.3:c.3585T>G NP_000170.1:p.Ser1195Arg NC_000002.12:47805645:T:G p.(Ser1195Arg) NC_000002.12:47805645:T:G p.(Ser1195Arg) NC_000002.12:47805645:T:G Identity +NM_001195573.1:c.382G>C NP_001182502.1:p.Glu128Gln NC_000014.9:95131564:C:G p.(Glu128Gln) NC_000014.9:95131564:C:G p.(Glu128Gln) NC_000014.9:95131564:C:G Identity +NM_000057.4:c.3946G>A NP_000048.1:p.Asp1316Asn NC_000015.10:90811275:G:A p.(Asp1316Asn) NC_000015.10:90811275:G:A p.(Asp1316Asn) NC_000015.10:90811275:G:A Identity +NM_000038.6:c.4031C>T NP_000029.2:p.Ser1344Leu NC_000005.10:112839624:C:T p.(Ser1344Leu) NC_000005.10:112839624:C:T p.(Ser1344Leu) NC_000005.10:112839624:C:T Identity +NM_001407571.1:c.3821A>T NP_001394500.1:p.Glu1274Val NC_000017.11:43091496:T:A p.(Glu1274Val) NC_000017.11:43091496:T:A p.(Glu1274Val) NC_000017.11:43091496:T:A Identity +NM_005732.4:c.407T>C NP_005723.2:p.Ile136Thr NC_000005.10:132579357:T:C p.(Ile136Thr) NC_000005.10:132579357:T:C p.(Ile136Thr) NC_000005.10:132579357:T:C Identity +NM_000038.6:c.4117C>A NP_000029.2:p.Pro1373Thr NC_000005.10:112839710:C:A p.(Pro1373Thr) NC_000005.10:112839710:C:A p.(Pro1373Thr) NC_000005.10:112839710:C:A Identity +NM_000179.3:c.3996_3997dup NP_000170.1:p.Phe1333fs NC_000002.12:47806644:TAT:TATAT p.(Phe1333TyrfsTer14) NC_000002.12:47806644:TAT:TATAT p.(Phe1333TyrfsTer14) ERR:SPDI Analogous +NM_004329.3:c.401T>C NP_004320.2:p.Leu134Ser NC_000010.11:86899860:T:C p.(Leu134Ser) NC_000010.11:86899860:T:C p.(Leu134Ser) NC_000010.11:86899860:T:C Identity +NM_001407852.1:c.3944A>T NP_001394781.1:p.Asp1315Val NC_000017.11:43091445:T:A p.(Asp1315Val) NC_000017.11:43091445:T:A p.(Asp1315Val) NC_000017.11:43091445:T:A Identity +NM_000059.4:c.4169T>G NP_000050.3:p.Leu1390Trp NC_000013.11:32338523:T:G p.(Leu1390Trp) NC_000013.11:32338523:T:G p.(Leu1390Trp) NC_000013.11:32338523:T:G Identity +NM_000059.4:c.4545G>C NP_000050.3:p.Lys1515Asn NC_000013.11:32338899:G:C p.(Lys1515Asn) NC_000013.11:32338899:G:C p.(Lys1515Asn) NC_000013.11:32338899:G:C Identity +NM_000059.4:c.4597A>C NP_000050.3:p.Lys1533Gln NC_000013.11:32338951:A:C p.(Lys1533Gln) NC_000013.11:32338951:A:C p.(Lys1533Gln) NC_000013.11:32338951:A:C Identity +NM_001408419.1:c.1345_1346delGGinsAA NP_001395348.1:p.Gly449Asn NC_000017.11:43071141:CC:TT p.(Gly449Asn) NC_000017.11:43071141:CC:TT p.(Gly449Asn) NC_000017.11:43071141:CC:TT Identity +NM_032043.3:c.457G>A NP_114432.2:p.Asp153Asn NC_000017.11:61849178:C:T p.(Asp153Asn) NC_000017.11:61849178:C:T p.(Asp153Asn) NC_000017.11:61849178:C:T Identity +NM_000546.6:c.438G>T NP_000537.3:p.Trp146Cys NC_000017.11:7675173:C:A p.(Trp146Cys) NC_000017.11:7675173:C:A p.(Trp146Cys) NC_000017.11:7675173:C:A Identity +NM_024675.4:c.481_482del NP_078951.2:p.Asp161fs NC_000016.10:23636063:TCTCTCTC:TCTCTC p.(Asp161LeufsTer6) NC_000016.10:23636063:TCTCTCTC:TCTCTC p.(Asp161LeufsTer6) NC_000016.10:23636063:TC: Analogous +NM_001406774.1:c.338C>T NP_001393703.1:p.Thr113Ile NC_000010.11:43102470:C:T p.(Thr113Ile) NC_000010.11:43102470:C:T p.(Thr113Ile) NC_000010.11:43102470:C:T Identity +NM_000179.3:c.469A>C NP_000170.1:p.Lys157Gln NC_000002.12:47795904:A:C p.(Lys157Gln) NC_000002.12:47795904:A:C p.(Lys157Gln) NC_000002.12:47795904:A:C Identity +NM_001353229.2:c.571A>G NP_001340158.1:p.Ile191Val NC_000017.11:17224022:T:C p.(Ile191Val) NC_000017.11:17224022:T:C p.(Ile191Val) NC_000017.11:17224022:T:C Identity +NM_001195573.1:c.5308G>A NP_001182502.1:p.Asp1770Asn NC_000014.9:95093943:C:T p.(Asp1770Asn) NC_000014.9:95093943:C:T p.(Asp1770Asn) NC_000014.9:95093943:C:T Identity +NM_000038.6:c.5141A>G NP_000029.2:p.Asp1714Gly NC_000005.10:112840734:A:G p.(Asp1714Gly) NC_000005.10:112840734:A:G p.(Asp1714Gly) NC_000005.10:112840734:A:G Identity +NM_000059.4:c.5371A>G NP_000050.3:p.Ile1791Val NC_000013.11:32339725:A:G p.(Ile1791Val) NC_000013.11:32339725:A:G p.(Ile1791Val) NC_000013.11:32339725:A:G Identity +NM_000059.4:c.5561T>C NP_000050.3:p.Val1854Ala NC_000013.11:32339915:T:C p.(Val1854Ala) NC_000013.11:32339915:T:C p.(Val1854Ala) NC_000013.11:32339915:T:C Identity +NM_000249.4:c.55A>C NP_000240.1:p.Ile19Leu NC_000003.12:36993601:A:C p.(Ile19Leu) NC_000003.12:36993601:A:C p.(Ile19Leu) NC_000003.12:36993601:A:C Identity +NM_005359.6:c.572C>T NP_005350.1:p.Ser191Leu NC_000018.10:51054897:C:T p.(Ser191Leu) NC_000018.10:51054897:C:T p.(Ser191Leu) NC_000018.10:51054897:C:T Identity +NM_001271282.3:c.5509A>G NP_001258211.1:p.Met1837Val NC_000014.9:95091220:T:C p.(Met1837Val) NC_000014.9:95091220:T:C p.(Met1837Val) NC_000014.9:95091220:T:C Identity +NM_001195573.1:c.5379A>G NP_001182502.1:p.Gln1793= NC_000014.9:95091094:T:C p.(Gln1793=) NC_000014.9:95091094:T:C p.(Gln1793=) NC_000014.9:95091094:T:C Identity +NM_001195573.1:c.5188G>C NP_001182502.1:p.Gly1730Arg NC_000014.9:95094063:C:G p.(Gly1730Arg) NC_000014.9:95094063:C:G p.(Gly1730Arg) NC_000014.9:95094063:C:G Identity +NM_000059.4:c.5675del NP_000050.3:p.Gly1892fs NC_000013.11:32340028:GG:G p.(Gly1892ValfsTer17) NC_000013.11:32340028:GG:G p.(Gly1892ValfsTer17) NC_000013.11:32340029:G: Analogous +NM_001024688.3:c.310T>A NP_001019859.1:p.Ser104Thr NC_000008.11:89978247:A:T p.(Ser104Thr) NC_000008.11:89978247:A:T p.(Ser104Thr) NC_000008.11:89978247:A:T Identity +NM_000059.4:c.6151_6152del NP_000050.3:p.Asn2051fs NC_000013.11:32340504:AAA:A p.(Asn2051PhefsTer8) NC_000013.11:32340504:AAA:A p.(Asn2051PhefsTer8) NC_000013.11:32340505:AA: Analogous +NM_001195573.1:c.574C>T NP_001182502.1:p.Leu192Phe NC_000014.9:95129631:G:A p.(Leu192Phe) NC_000014.9:95129631:G:A p.(Leu192Phe) NC_000014.9:95129631:G:A Identity +NM_001317184.2:c.577A>G NP_001304113.1:p.Thr193Ala NC_000016.10:68808737:A:G p.(Thr193Ala) NC_000016.10:68808737:A:G p.(Thr193Ala) NC_000016.10:68808737:A:G Identity +NM_000546.6:c.579T>A NP_000537.3:p.His193Gln NC_000017.11:7674951:A:T p.(His193Gln) NC_000017.11:7674951:A:T p.(His193Gln) NC_000017.11:7674951:A:T Identity +NM_000249.4:c.589C>G NP_000240.1:p.Gln197Glu NC_000003.12:37012010:C:G p.(Gln197Glu) NC_000003.12:37012010:C:G p.(Gln197Glu) NC_000003.12:37012010:C:G Identity +NM_001193304.3:c.626A>T NP_001180233.1:p.Glu209Val NC_000002.12:96253898:T:A p.(Glu209Val) NC_000002.12:96253898:T:A p.(Glu209Val) NC_000002.12:96253898:T:A Identity +NM_004329.3:c.658T>C NP_004320.2:p.Ser220Pro NC_000010.11:86912366:T:C p.(Ser220Pro) NC_000010.11:86912366:T:C p.(Ser220Pro) NC_000010.11:86912366:T:C Identity +NM_000051.4:c.635T>C NP_000042.3:p.Phe212Ser NC_000011.10:108244090:T:C p.(Phe212Ser) NC_000011.10:108244090:T:C p.(Phe212Ser) NC_000011.10:108244090:T:C Identity +NM_001290307.3:c.652G>A NP_001277236.1:p.Val218Ile NC_000005.10:138824592:G:A p.(Val218Ile) NC_000005.10:138824592:G:A p.(Val218Ile) NC_000005.10:138824592:G:A Identity +NM_000057.4:c.61C>G NP_000048.1:p.Leu21Val NC_000015.10:90747452:C:G p.(Leu21Val) NC_000015.10:90747452:C:G p.(Leu21Val) NC_000015.10:90747452:C:G Identity +NM_000314.8:c.637C>T NP_000305.3:p.Pro213Ser NC_000010.11:87957854:C:T p.(Pro213Ser) NC_000010.11:87957854:C:T p.(Pro213Ser) NC_000010.11:87957854:C:T Identity +NM_000136.3:c.677C>A NP_000127.2:p.Ala226Asp NC_000009.12:95149931:G:T p.(Ala226Asp) NC_000009.12:95149931:G:T p.(Ala226Asp) NC_000009.12:95149931:G:T Identity +NM_003000.3:c.688dup NP_002991.2:p.Arg230fs NC_000001.11:17022684:G:GG p.(Arg230ProfsTer26) NC_000001.11:17022684:G:GG p.(Arg230ProfsTer26) ERR:SPDI Analogous +NM_006361.6:c.691C>A NP_006352.2:p.Leu231Met NC_000017.11:48726953:G:T p.(Leu231Met) NC_000017.11:48726953:G:T p.(Leu231Met) NC_000017.11:48726953:G:T Identity +NM_001195573.1:c.698A>G NP_001182502.1:p.Asn233Ser NC_000014.9:95129507:T:C p.(Asn233Ser) NC_000014.9:95129507:T:C p.(Asn233Ser) NC_000014.9:95129507:T:C Identity +NM_001142571.2:c.741G>A NP_001136043.1:p.Met247Ile NC_000017.11:35103310:C:T p.(Met247Ile) NC_000017.11:35103310:C:T p.(Met247Ile) NC_000017.11:35103310:C:T Identity +NM_000455.5:c.715T>G NP_000446.1:p.Trp239Gly NC_000019.10:1220697:T:G p.(Trp239Gly) NC_000019.10:1220697:T:G p.(Trp239Gly) NC_000019.10:1220697:T:G Identity +NM_000535.7:c.730del NP_000526.2:p.Gln244fs NC_000007.14:5997398:G: p.(Gln244SerfsTer14) NC_000007.14:5997398:G: p.(Gln244SerfsTer14) NC_000007.14:5997398:G: Analogous +NM_001302959.2:c.547C>G NP_001289888.1:p.Leu183Val NC_000011.10:67490393:C:G p.(Leu183Val) NC_000011.10:67490393:C:G p.(Leu183Val) NC_000011.10:67490393:C:G Identity +NM_001294332.2:c.592C>T NP_001281261.1:p.Arg198Cys NC_000005.10:228298:C:T p.(Arg198Cys) NC_000005.10:228298:C:T p.(Arg198Cys) NC_000005.10:228298:C:T Identity +NM_000136.3:c.729G>A NP_000127.2:p.Trp243Ter NC_000009.12:95135459:C:T p.(Trp243Ter) NC_000009.12:95135459:C:T p.(Trp243Ter) NC_000009.12:95135459:C:T Identity +NM_000038.6:c.7322C>T NP_000029.2:p.Ser2441Leu NC_000005.10:112842915:C:T p.(Ser2441Leu) NC_000005.10:112842915:C:T p.(Ser2441Leu) NC_000005.10:112842915:C:T Identity +NM_001406764.1:c.619C>T NP_001393693.1:p.Arg207Cys NC_000010.11:43105073:C:T p.(Arg207Cys) NC_000010.11:43105073:C:T p.(Arg207Cys) NC_000010.11:43105073:C:T Identity +NM_000249.4:c.787A>C NP_000240.1:p.Asn263His NC_000003.12:37014540:A:C p.(Asn263His) NC_000003.12:37014540:A:C p.(Asn263His) NC_000003.12:37014540:A:C Identity +NM_004329.3:c.745T>C NP_004320.2:p.Trp249Arg NC_000010.11:86917202:T:C p.(Trp249Arg) NC_000010.11:86917202:T:C p.(Trp249Arg) NC_000010.11:86917202:T:C Identity +NM_032043.3:c.763C>G NP_114432.2:p.Gln255Glu NC_000017.11:61808621:G:C p.(Gln255Glu) NC_000017.11:61808621:G:C p.(Gln255Glu) NC_000017.11:61808621:G:C Identity +NM_001178133.2:c.776T>C NP_001171604.1:p.Ile259Thr NC_000010.11:102597158:T:C p.(Ile259Thr) NC_000010.11:102597158:T:C p.(Ile259Thr) NC_000010.11:102597158:T:C Identity +NM_000038.6:c.7867A>T NP_000029.2:p.Thr2623Ser NC_000005.10:112843460:A:T p.(Thr2623Ser) NC_000005.10:112843460:A:T p.(Thr2623Ser) NC_000005.10:112843460:A:T Identity +NM_000059.4:c.7701T>A NP_000050.3:p.Tyr2567Ter NC_000013.11:32357824:T:A p.(Tyr2567Ter) NC_000013.11:32357824:T:A p.(Tyr2567Ter) NC_000013.11:32357824:T:A Identity +NM_001302959.2:c.627C>T NP_001289888.1:p.Tyr209= NC_000011.10:67490803:C:T p.(Tyr209=) NC_000011.10:67490803:C:T p.(Tyr209=) NC_000011.10:67490803:C:T Identity +NM_001362843.2:c.3360_3361del NP_001349772.1:p.Glu1121fs NC_000022.11:41157344:TG: p.(Glu1121GlyfsTer3) NC_000022.11:41157344:TG: p.(Glu1121GlyfsTer3) NC_000022.11:41157344:TG: Analogous +NM_002180.3:c.2365C>A NP_002171.2:p.Pro789Thr NC_000011.10:68936844:C:A p.(Pro789Thr) NC_000011.10:68936844:C:A p.(Pro789Thr) NC_000011.10:68936844:C:A Identity +NM_001289396.2:c.1600G>A NP_001276325.1:p.Asp534Asn NC_000009.12:2060893:G:A p.(Asp534Asn) NC_000009.12:2060893:G:A p.(Asp534Asn) NC_000009.12:2060893:G:A Identity +NM_001289396.2:c.2786A>T NP_001276325.1:p.Glu929Val NC_000009.12:2088515:A:T p.(Glu929Val) NC_000009.12:2088515:A:T p.(Glu929Val) NC_000009.12:2088515:A:T Identity +NM_000264.5:c.812_814del NP_000255.2:p.Ile271del NC_000009.12:95480520:TTATT:TT p.(Ile271del) NC_000009.12:95480520:TTATT:TT p.(Ile271del) NC_000009.12:95480520:TTA: Identity +NM_000038.6:c.8276G>T NP_000029.2:p.Arg2759Leu NC_000005.10:112843869:G:T p.(Arg2759Leu) NC_000005.10:112843869:G:T p.(Arg2759Leu) NC_000005.10:112843869:G:T Identity +NM_001384880.1:c.859T>G NP_001371809.1:p.Tyr287Asp NC_000002.12:190995145:A:C p.(Tyr287Asp) NC_000002.12:190995145:A:C p.(Tyr287Asp) NC_000002.12:190995145:A:C Identity +NM_032888.4:c.3056C>A NP_116277.2:p.Pro1019His NC_000009.12:114252614:C:A p.(Pro1019His) NC_000009.12:114252614:C:A p.(Pro1019His) NC_000009.12:114252614:C:A Identity +NM_001178098.2:c.178C>T NP_001171569.1:p.Pro60Ser NC_000016.10:28932434:C:T p.(Pro60Ser) NC_000016.10:28932434:C:T p.(Pro60Ser) NC_000016.10:28932434:C:T Identity +NM_000474.4:c.397A>T NP_000465.1:p.Lys133Ter NC_000007.14:19116924:T:A p.(Lys133Ter) NC_000007.14:19116924:T:A p.(Lys133Ter) NC_000007.14:19116924:T:A Identity +NM_001135820.2:c.2955G>A NP_001129292.1:p.Trp985Ter NC_000009.12:71704644:C:T p.(Trp985Ter) NC_000009.12:71704644:C:T p.(Trp985Ter) NC_000009.12:71704644:C:T Identity +NM_001286577.2:c.185G>C NP_001273506.1:p.Arg62Pro NC_000011.10:74168483:C:G p.(Arg62Pro) NC_000011.10:74168483:C:G p.(Arg62Pro) NC_000011.10:74168483:C:G Identity +NM_001177984.3:c.3295G>A NP_001171455.1:p.Ala1099Thr NC_000012.12:51769257:G:A p.(Ala1099Thr) NC_000012.12:51769257:G:A p.(Ala1099Thr) NC_000012.12:51769257:G:A Identity +NM_001168370.2:c.3084G>A NP_001161842.2:p.Trp1028Ter NC_000006.12:43045276:C:T p.(Trp1028Ter) NC_000006.12:43045276:C:T p.(Trp1028Ter) NC_000006.12:43045276:C:T Identity +NM_001135.4:c.37del NP_001126.3:p.Val13fs NC_000015.10:88836240:GGG:GG p.(Val13SerfsTer8) NC_000015.10:88836240:GGG:GG p.(Val13SerfsTer8) NC_000015.10:88836242:G: Analogous +NM_001074.4:c.795G>C NP_001065.2:p.Gln265His NC_000004.12:69098612:G:C p.(Gln265His) NC_000004.12:69098612:G:C p.(Gln265His) NC_000004.12:69098612:G:C Identity +NM_000927.5:c.468G>A NP_000918.2:p.Met156Ile NC_000007.14:87566846:C:T p.(Met156Ile) NC_000007.14:87566846:C:T p.(Met156Ile) NC_000007.14:87566846:C:T Identity +NM_000927.5:c.2234C>T NP_000918.2:p.Pro745Leu NC_000007.14:87541441:G:A p.(Pro745Leu) NC_000007.14:87541441:G:A p.(Pro745Leu) NC_000007.14:87541441:G:A Identity +NM_001008505.2:c.1183del NP_001008505.2:p.Leu395fs NC_000006.12:154093285:CCC:CC p.(Leu395CysfsTer6) NC_000006.12:154093285:CCC:CC p.(Leu395CysfsTer6) NC_000006.12:154093287:C: Analogous +NM_000927.5:c.1792A>G NP_000918.2:p.Ile598Val NC_000007.14:87545957:T:C p.(Ile598Val) NC_000007.14:87545957:T:C p.(Ile598Val) NC_000007.14:87545957:T:C Identity +LRG_1007t2:c.757T>G LRG_1007p2:p.Cys253Gly NC_000006.12:154091064:T:G ERR:Data provider error: ValueError: Transcript LRG_1007t2 not found ERR:Data provider error: ValueError: Transcript LRG_1007t2 not found ERR:AlignmentMapper(tx_ac=LRG_1007t2, alt_ac=LRG_1007t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1007t2, alt_ac=LRG_1007t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1007t2 not found +NM_001348945.2:c.578C>T NP_001335874.1:p.Ala193Val NC_000007.14:87566946:G:A p.(Ala193Val) NC_000007.14:87566946:G:A p.(Ala193Val) NC_000007.14:87566946:G:A Identity +NM_000106.6:c.1094G>A NP_000097.3:p.Arg365His NC_000022.11:42127525:C:T p.(Arg365His) NC_000022.11:42127525:C:T p.(Arg365His) NC_000022.11:42127525:C:T Identity +NM_001074.4:c.1000A>T NP_001065.2:p.Lys334Ter NC_000004.12:69102935:A:T p.(Lys334Ter) NC_000004.12:69102935:A:T p.(Lys334Ter) NC_000004.12:69102935:A:T Identity +NM_000106.6:c.574G>A NP_000097.3:p.Gly192Arg NC_000022.11:42128875:C:T p.(Gly192Arg) NC_000022.11:42128875:C:T p.(Gly192Arg) NC_000022.11:42128875:C:T Identity +NM_000927.5:c.185G>T NP_000918.2:p.Gly62Val NC_000007.14:87585612:C:A p.(Gly62Val) NC_000007.14:87585612:C:A p.(Gly62Val) NC_000007.14:87585612:C:A Identity +NM_000927.5:c.1161T>A NP_000918.2:p.Asn387Lys NC_000007.14:87550530:A:T p.(Asn387Lys) NC_000007.14:87550530:A:T p.(Asn387Lys) NC_000007.14:87550530:A:T Identity +NM_000927.5:c.3373T>A NP_000918.2:p.Cys1125Ser NC_000007.14:87509390:A:T p.(Cys1125Ser) NC_000007.14:87509390:A:T p.(Cys1125Ser) NC_000007.14:87509390:A:T Identity +NM_000106.6:c.271C>A NP_000097.3:p.Leu91Met NC_000022.11:42129818:G:T p.(Leu91Met) NC_000022.11:42129818:G:T p.(Leu91Met) NC_000022.11:42129818:G:T Identity +NM_001282512.3:c.12G>A NP_001269441.1:p.Met4Ile NC_000022.11:19941791:C:T p.(Met4Ile) NC_000022.11:19941791:C:T p.(Met4Ile) NC_000022.11:19941791:C:T Identity +NM_001256850.1:c.43503T>A NP_001243779.1:p.Tyr14501Ter NC_000002.12:178615674:A:T p.(Tyr14501Ter) NC_000002.12:178615674:A:T p.(Tyr14501Ter) NC_000002.12:178615674:A:T Identity +NM_001244008.2:c.4554C>G NP_001230937.1:p.Ser1518Arg NC_000002.12:240722566:G:C p.(Ser1518Arg) NC_000002.12:240722566:G:C p.(Ser1518Arg) NC_000002.12:240722566:G:C Identity +NM_000296.4:c.11045dup NP_000287.4:p.Thr3683fs NC_000016.10:2093061:A:AA p.(Thr3683AspfsTer38) NC_000016.10:2093061:A:AA p.(Thr3683AspfsTer38) ERR:SPDI Analogous +NM_000064.4:c.2061dup NP_000055.2:p.Lys688fs NC_000019.10:6707259:GGGG:GGGGG p.(Lys688GlnfsTer63) NC_000019.10:6707259:GGGG:GGGGG p.(Lys688GlnfsTer63) ERR:SPDI Analogous +NM_000754.4:c.704G>A NP_000745.1:p.Gly235Glu NC_000022.11:19968623:G:A p.(Gly235Glu) NC_000022.11:19968623:G:A p.(Gly235Glu) NC_000022.11:19968623:G:A Identity +NM_000754.4:c.623G>A NP_000745.1:p.Gly208Asp NC_000022.11:19968542:G:A p.(Gly208Asp) NC_000022.11:19968542:G:A p.(Gly208Asp) NC_000022.11:19968542:G:A Identity +NM_024675.4:c.2540C>T NP_078951.2:p.Ser847Phe NC_000016.10:23629249:G:A p.(Ser847Phe) NC_000016.10:23629249:G:A p.(Ser847Phe) NC_000016.10:23629249:G:A Identity +NM_001318054.2:c.169_188del NP_001304983.1:p.Ser57fs NC_000011.10:533301:GGGTCCCGGGGGGTCCCAGAGGGTCCCGG:GGGTCCCGG p.(Ser57MetfsTer2) NC_000011.10:533301:GGGTCCCGGGGGGTCCCAGAGGGTCCCGG:GGGTCCCGG p.(Ser57MetfsTer2) NC_000011.10:533301:GGGTCCCGGGGGGTCCCAGA: Analogous +NM_024675.4:c.1245C>A NP_078951.2:p.Ser415Arg NC_000016.10:23635300:G:T p.(Ser415Arg) NC_000016.10:23635300:G:T p.(Ser415Arg) NC_000016.10:23635300:G:T Identity +NM_024675.4:c.1285delinsTC NP_078951.2:p.Ile429fs NC_000016.10:23635260:T:GA p.(Ile429SerfsTer13) NC_000016.10:23635260:T:GA p.(Ile429SerfsTer13) NC_000016.10:23635260:T:GA Analogous +NM_024675.4:c.2941A>G NP_078951.2:p.Ser981Gly NC_000016.10:23623023:T:C p.(Ser981Gly) NC_000016.10:23623023:T:C p.(Ser981Gly) NC_000016.10:23623023:T:C Identity +NM_001308133.2:c.2447_2450del NP_001295062.1:p.Gln816fs NC_000014.9:45175274:AAACAAAC:AAAC p.(Gln816LeufsTer11) NC_000014.9:45175274:AAACAAAC:AAAC p.(Gln816LeufsTer11) NC_000014.9:45175278:AAAC: Analogous +NM_001308133.2:c.3853C>T NP_001295062.1:p.Pro1285Ser NC_000014.9:45176684:C:T p.(Pro1285Ser) NC_000014.9:45176684:C:T p.(Pro1285Ser) NC_000014.9:45176684:C:T Identity +NM_001363676.1:c.236G>A NP_001350605.1:p.Gly79Asp NC_000007.14:157367372:G:A p.(Gly79Asp) NC_000007.14:157367372:G:A p.(Gly79Asp) NC_000007.14:157367372:G:A Identity +NM_000348.4:c.100G>C NP_000339.2:p.Gly34Arg NC_000002.12:31580800:C:G p.(Gly34Arg) NC_000002.12:31580800:C:G p.(Gly34Arg) NC_000002.12:31580800:C:G Identity +NM_000495.5:c.4731_4732del NP_000486.1:p.His1577fs NC_000023.11:108694846:CACA:CA p.(His1577GlnfsTer62) NC_000023.11:108694846:CACA:CA p.(His1577GlnfsTer62) NC_000023.11:108694848:CA: Analogous +NM_000296.4:c.1084G>A NP_000287.4:p.Val362Met NC_000016.10:2117907:C:T p.(Val362Met) NC_000016.10:2117907:C:T p.(Val362Met) NC_000016.10:2117907:C:T Identity +NM_001177316.2:c.897C>G NP_001170787.2:p.Asn299Lys NC_000009.12:137233912:C:G p.(Asn299Lys) NC_000009.12:137233912:C:G p.(Asn299Lys) NC_000009.12:137233912:C:G Identity +NM_000282.4:c.446del NP_000273.2:p.Asn149fs NC_000013.11:100157314:AAAA:AAA p.(Asn149ThrfsTer35) NC_000013.11:100157314:AAAA:AAA p.(Asn149ThrfsTer35) NC_000013.11:100157317:A: Analogous +NM_000352.6:c.4325A>T NP_000343.2:p.Glu1442Val NC_000011.10:17395257:T:A p.(Glu1442Val) NC_000011.10:17395257:T:A p.(Glu1442Val) NC_000011.10:17395257:T:A Identity +NM_006772.3:c.3962C>A NP_006763.2:p.Pro1321Gln NC_000006.12:33451835:C:A p.(Pro1321Gln) NC_000006.12:33451835:C:A p.(Pro1321Gln) NC_000006.12:33451835:C:A Identity +NM_173354.5:c.424G>C NP_775490.2:p.Asp142His NC_000021.9:43421712:C:G p.(Asp142His) NC_000021.9:43421712:C:G p.(Asp142His) NC_000021.9:43421712:C:G Identity +NM_007118.4:c.3895G>A NP_009049.2:p.Glu1299Lys NC_000005.10:14388625:G:A p.(Glu1299Lys) NC_000005.10:14388625:G:A p.(Glu1299Lys) NC_000005.10:14388625:G:A Identity +NM_000832.7:c.992C>T NP_000823.4:p.Ala331Val NC_000009.12:137158401:C:T p.(Ala331Val) NC_000009.12:137158401:C:T p.(Ala331Val) NC_000009.12:137158401:C:T Identity +NM_001130438.3:c.7073G>A NP_001123910.1:p.Arg2358His NC_000009.12:128632630:G:A p.(Arg2358His) NC_000009.12:128632630:G:A p.(Arg2358His) NC_000009.12:128632630:G:A Identity +NM_004975.4:c.1724G>A NP_004966.1:p.Arg575His NC_000020.11:49373835:C:T p.(Arg575His) NC_000020.11:49373835:C:T p.(Arg575His) NC_000020.11:49373835:C:T Identity +NM_001005336.3:c.1889T>C NP_001005336.1:p.Val630Ala NC_000009.12:128247481:T:C p.(Val630Ala) NC_000009.12:128247481:T:C p.(Val630Ala) NC_000009.12:128247481:T:C Identity +NM_001143821.3:c.2720T>G NP_001137293.2:p.Val907Gly NC_000012.12:19353907:T:G p.(Val907Gly) NC_000012.12:19353907:T:G p.(Val907Gly) NC_000012.12:19353907:T:G Identity +NM_006772.3:c.2215G>T NP_006763.2:p.Glu739Ter NC_000006.12:33441679:G:T p.(Glu739Ter) NC_000006.12:33441679:G:T p.(Glu739Ter) NC_000006.12:33441679:G:T Identity +NM_001257281.2:c.1468A>G NP_001244210.1:p.Thr490Ala NC_000002.12:232263248:A:G p.(Thr490Ala) NC_000002.12:232263248:A:G p.(Thr490Ala) NC_000002.12:232263248:A:G Identity +NM_000143.4:c.1474C>G NP_000134.2:p.Leu492Val NC_000001.11:241497886:G:C p.(Leu492Val) NC_000001.11:241497886:G:C p.(Leu492Val) NC_000001.11:241497886:G:C Identity +NM_001378120.1:c.1700A>G NP_001365049.1:p.Asn567Ser NC_000002.12:148469642:A:G p.(Asn567Ser) NC_000002.12:148469642:A:G p.(Asn567Ser) NC_000002.12:148469642:A:G Identity +NM_005458.8:c.1924C>T NP_005449.5:p.Arg642Cys NC_000009.12:98311174:G:A p.(Arg642Cys) NC_000009.12:98311174:G:A p.(Arg642Cys) NC_000009.12:98311174:G:A Identity +NM_001348250.2:c.1000G>T NP_001335179.1:p.Ala334Ser NC_000003.12:11026280:G:T p.(Ala334Ser) NC_000003.12:11026280:G:T p.(Ala334Ser) NC_000003.12:11026280:G:T Identity +NM_001378120.1:c.2648T>C NP_001365049.1:p.Leu883Pro NC_000002.12:148483238:T:C p.(Leu883Pro) NC_000002.12:148483238:T:C p.(Leu883Pro) NC_000002.12:148483238:T:C Identity +NM_001165963.4:c.2095G>A NP_001159435.1:p.Val699Ile NC_000002.12:166042372:C:T p.(Val699Ile) NC_000002.12:166042372:C:T p.(Val699Ile) NC_000002.12:166042372:C:T Identity +NM_001008537.3:c.4492A>G NP_001008537.1:p.Thr1498Ala NC_000023.11:74739463:T:C p.(Thr1498Ala) NC_000023.11:74739463:T:C p.(Thr1498Ala) NC_000023.11:74739463:T:C Identity +NM_145038.5:c.1825G>A NP_659475.2:p.Glu609Lys NC_000002.12:26453454:G:A p.(Glu609Lys) NC_000002.12:26453454:G:A p.(Glu609Lys) NC_000002.12:26453454:G:A Identity +NM_000378.6:c.763A>C NP_000369.4:p.Met255Leu NC_000011.10:32428517:T:G p.(Met255Leu) NC_000011.10:32428517:T:G p.(Met255Leu) NC_000011.10:32428517:T:G Identity +NM_000245.4:c.1958_1960del NP_000236.2:p.Ser653del NC_000007.14:116757529:CTCCT:CT p.(Ser653del) NC_000007.14:116757529:CTCCT:CT p.(Ser653del) NC_000007.14:116757531:CCT: Identity +NM_000832.7:c.2414del NP_000823.4:p.Pro805fs NC_000009.12:137163635:CCCC:CCC p.(Pro805LeufsTer16) NC_000009.12:137163635:CCCC:CCC p.(Pro805LeufsTer16) NC_000009.12:137163638:C: Analogous +NM_000038.6:c.2774G>A NP_000029.2:p.Ser925Asn NC_000005.10:112838367:G:A p.(Ser925Asn) NC_000005.10:112838367:G:A p.(Ser925Asn) NC_000005.10:112838367:G:A Identity +NM_001024688.3:c.1665A>G NP_001019859.1:p.Ile555Met NC_000008.11:89947826:T:C p.(Ile555Met) NC_000008.11:89947826:T:C p.(Ile555Met) NC_000008.11:89947826:T:C Identity +NM_001177984.3:c.1969T>G NP_001171455.1:p.Ser657Ala NC_000012.12:51721878:T:G p.(Ser657Ala) NC_000012.12:51721878:T:G p.(Ser657Ala) NC_000012.12:51721878:T:G Identity +NM_000377.3:c.1405dup NP_000368.1:p.Ala469fs NC_000023.11:48689381:GGGGG:GGGGGG p.(Ala469GlyfsTer26) NC_000023.11:48689381:GGGGG:GGGGGG p.(Ala469GlyfsTer26) ERR:SPDI Analogous +NM_001160227.2:c.3584A>G NP_001153699.1:p.Glu1195Gly NC_000015.10:44600568:T:C p.(Glu1195Gly) NC_000015.10:44600568:T:C p.(Glu1195Gly) NC_000015.10:44600568:T:C Identity +NM_001172631.3:c.1334A>G NP_001166102.1:p.Asn445Ser NC_000014.9:102432044:A:G p.(Asn445Ser) NC_000014.9:102432044:A:G p.(Asn445Ser) NC_000014.9:102432044:A:G Identity +NM_001134670.2:c.343G>A NP_001128142.1:p.Ala115Thr NC_000010.11:97601987:G:A p.(Ala115Thr) NC_000010.11:97601987:G:A p.(Ala115Thr) NC_000010.11:97601987:G:A Identity +NM_001244008.2:c.3287G>A NP_001230937.1:p.Arg1096His NC_000002.12:240745824:C:T p.(Arg1096His) NC_000002.12:240745824:C:T p.(Arg1096His) NC_000002.12:240745824:C:T Identity +NM_000548.5:c.4803dup NP_000539.2:p.Glu1602Ter NC_000016.10:2086332:T:TT p.(Glu1602Ter) NC_000016.10:2086332:T:TT p.(Glu1602Ter) ERR:SPDI Identity +NM_001354609.2:c.181A>G NP_001341538.1:p.Ile61Val NC_000007.14:140850169:T:C p.(Ile61Val) NC_000007.14:140850169:T:C p.(Ile61Val) NC_000007.14:140850169:T:C Identity +NM_001282948.2:c.2258C>T NP_001269877.1:p.Pro753Leu NC_000010.11:63209125:G:A p.(Pro753Leu) NC_000010.11:63209125:G:A p.(Pro753Leu) NC_000010.11:63209125:G:A Identity +NM_001257970.1:c.26C>G NP_001244899.1:p.Ser9Cys NC_000017.11:80181463:C:G p.(Ser9Cys) NC_000017.11:80181463:C:G p.(Ser9Cys) NC_000017.11:80181463:C:G Identity +NM_000530.8:c.401A>C NP_000521.2:p.Asp134Ala NC_000001.11:161306754:T:G p.(Asp134Ala) NC_000001.11:161306754:T:G p.(Asp134Ala) NC_000001.11:161306754:T:G Identity +NM_002439.5:c.3349C>T NP_002430.3:p.Gln1117Ter NC_000005.10:80875796:C:T p.(Gln1117Ter) NC_000005.10:80875796:C:T p.(Gln1117Ter) NC_000005.10:80875796:C:T Identity +NM_000158.4:c.1386C>G NP_000149.4:p.Tyr462Ter NC_000003.12:81581224:G:C p.(Tyr462Ter) NC_000003.12:81581224:G:C p.(Tyr462Ter) NC_000003.12:81581224:G:C Identity +NM_173354.5:c.118G>A NP_775490.2:p.Val40Met NC_000021.9:43426060:C:T p.(Val40Met) NC_000021.9:43426060:C:T p.(Val40Met) NC_000021.9:43426060:C:T Identity +NM_000179.3:c.3916_3920dup NP_000170.1:p.Asn1307fs NC_000002.12:47806565:GCTAA:GCTAAGCTAA p.(Asn1307LysfsTer22) NC_000002.12:47806565:GCTAA:GCTAAGCTAA p.(Asn1307LysfsTer22) ERR:SPDI Analogous +NM_144573.4:c.55C>T NP_653174.3:p.Pro19Ser NC_000001.11:77917592:C:T p.(Pro19Ser) NC_000001.11:77917592:C:T p.(Pro19Ser) NC_000001.11:77917592:C:T Identity +NM_001008537.3:c.635C>G NP_001008537.1:p.Ser212Ter NC_000023.11:74743921:G:C p.(Ser212Ter) NC_000023.11:74743921:G:C p.(Ser212Ter) NC_000023.11:74743921:G:C Identity +NM_002334.4:c.1097C>T NP_002325.2:p.Ala366Val NC_000011.10:46895969:G:A p.(Ala366Val) NC_000011.10:46895969:G:A p.(Ala366Val) NC_000011.10:46895969:G:A Identity +NM_032974.5:c.786C>G NP_116756.2:p.Asn262Lys NC_000002.12:201205945:C:G p.(Asn262Lys) NC_000002.12:201205945:C:G p.(Asn262Lys) NC_000002.12:201205945:C:G Identity +NM_000843.4:c.2029C>T NP_000834.2:p.Arg677Cys NC_000005.10:178986224:G:A p.(Arg677Cys) NC_000005.10:178986224:G:A p.(Arg677Cys) NC_000005.10:178986224:G:A Identity +NM_000334.4:c.4540G>A NP_000325.4:p.Asp1514Asn NC_000017.11:63941741:C:T p.(Asp1514Asn) NC_000017.11:63941741:C:T p.(Asp1514Asn) NC_000017.11:63941741:C:T Identity +NM_025114.4:c.2252G>A NP_079390.3:p.Arg751Gln NC_000012.12:88111316:C:T p.(Arg751Gln) NC_000012.12:88111316:C:T p.(Arg751Gln) NC_000012.12:88111316:C:T Identity +NM_000256.3:c.210A>C NP_000247.2:p.Glu70Asp NC_000011.10:47351320:T:G p.(Glu70Asp) NC_000011.10:47351320:T:G p.(Glu70Asp) NC_000011.10:47351320:T:G Identity +NM_152383.5:c.2635C>A NP_689596.4:p.Pro879Thr NC_000002.12:232336606:C:A p.(Pro879Thr) NC_000002.12:232336606:C:A p.(Pro879Thr) NC_000002.12:232336606:C:A Identity +NM_001199138.2:c.2263C>A NP_001186067.1:p.Leu755Met NC_000002.12:32241119:G:T p.(Leu755Met) NC_000002.12:32241119:G:T p.(Leu755Met) NC_000002.12:32241119:G:T Identity +NM_004260.4:c.734T>G NP_004251.4:p.Val245Gly NC_000008.11:144516384:A:C p.(Val245Gly) NC_000008.11:144516384:A:C p.(Val245Gly) NC_000008.11:144516384:A:C Identity +NM_025099.6:c.883C>T NP_079375.3:p.Arg295Cys NC_000017.11:8236251:G:A p.(Arg295Cys) NC_000017.11:8236251:G:A p.(Arg295Cys) NC_000017.11:8236251:G:A Identity +NM_000445.5:c.9166G>A NP_000436.2:p.Val3056Ile NC_000008.11:143920735:C:T p.(Val3056Ile) NC_000008.11:143920735:C:T p.(Val3056Ile) NC_000008.11:143920735:C:T Identity +NM_001165928.4:c.2600C>T NP_001159400.3:p.Pro867Leu NC_000003.12:49533110:C:T p.(Pro867Leu) NC_000003.12:49533110:C:T p.(Pro867Leu) NC_000003.12:49533110:C:T Identity +NM_004304.5:c.2458G>A NP_004295.2:p.Gly820Arg NC_000002.12:29233593:C:T p.(Gly820Arg) NC_000002.12:29233593:C:T p.(Gly820Arg) NC_000002.12:29233593:C:T Identity +NM_001081640.2:c.7474G>C NP_001075109.1:p.Asp2492His NC_000008.11:47839226:C:G p.(Asp2492His) NC_000008.11:47839226:C:G p.(Asp2492His) NC_000008.11:47839226:C:G Identity +NM_206933.4:c.9093C>G NP_996816.3:p.Ile3031Met NC_000001.11:215844458:G:C p.(Ile3031Met) NC_000001.11:215844458:G:C p.(Ile3031Met) NC_000001.11:215844458:G:C Identity +NM_001008540.2:c.968_969del NP_001008540.1:p.Ser323fs NC_000002.12:136114970:AGAG:AG p.(Ser323CysfsTer24) NC_000002.12:136114970:AGAG:AG p.(Ser323CysfsTer24) NC_000002.12:136114970:AG: Analogous +NM_017780.4:c.6670G>A NP_060250.2:p.Gly2224Ser NC_000008.11:60853394:G:A p.(Gly2224Ser) NC_000008.11:60853394:G:A p.(Gly2224Ser) NC_000008.11:60853394:G:A Identity +NM_000076.2:c.536C>T NP_000067.1:p.Ala179Val NC_000011.10:2884953:G:A p.(Ala179Val) NC_000011.10:2884953:G:A p.(Ala179Val) NC_000011.10:2884953:G:A Identity +NM_006231.4:c.1968C>A NP_006222.2:p.Phe656Leu NC_000012.12:132668692:G:T p.(Phe656Leu) NC_000012.12:132668692:G:T p.(Phe656Leu) NC_000012.12:132668692:G:T Identity +NM_000138.5:c.2290G>A NP_000129.3:p.Val764Ile NC_000015.10:48497268:C:T p.(Val764Ile) NC_000015.10:48497268:C:T p.(Val764Ile) NC_000015.10:48497268:C:T Identity +NM_000057.4:c.2519A>C NP_000048.1:p.Asp840Ala NC_000015.10:90769549:A:C p.(Asp840Ala) NC_000015.10:90769549:A:C p.(Asp840Ala) NC_000015.10:90769549:A:C Identity +NM_000257.4:c.1159C>G NP_000248.2:p.Leu387Val NC_000014.9:23429326:G:C p.(Leu387Val) NC_000014.9:23429326:G:C p.(Leu387Val) NC_000014.9:23429326:G:C Identity +NM_032043.3:c.73C>T NP_114432.2:p.Gln25Ter NC_000017.11:61861466:G:A p.(Gln25Ter) NC_000017.11:61861466:G:A p.(Gln25Ter) NC_000017.11:61861466:G:A Identity +NM_000404.4:c.1468_1470del NP_000395.3:p.Asn490del NC_000003.12:33016717:GTTG:G p.(Asn490del) NC_000003.12:33016717:GTTG:G p.(Asn490del) NC_000003.12:33016717:GTT: Identity +NM_000545.8:c.872C>A NP_000536.6:p.Pro291Gln NC_000012.12:120994321:C:A p.(Pro291Gln) NC_000012.12:120994321:C:A p.(Pro291Gln) NC_000012.12:120994321:C:A Identity +NM_001040142.2:c.1490G>A NP_001035232.1:p.Ser497Asn NC_000002.12:165315576:G:A p.(Ser497Asn) NC_000002.12:165315576:G:A p.(Ser497Asn) NC_000002.12:165315576:G:A Identity +NM_002439.5:c.2537A>C NP_002430.3:p.Tyr846Ser NC_000005.10:80787665:A:C p.(Tyr846Ser) NC_000005.10:80787665:A:C p.(Tyr846Ser) NC_000005.10:80787665:A:C Identity +NM_000038.6:c.4398del NP_000029.2:p.Pro1467fs NC_000005.10:112839991:A: p.(Pro1467LeufsTer6) NC_000005.10:112839991:A: p.(Pro1467LeufsTer6) NC_000005.10:112839991:A: Analogous +NM_002876.4:c.73G>T NP_002867.1:p.Val25Leu NC_000017.11:58692715:G:T p.(Val25Leu) NC_000017.11:58692715:G:T p.(Val25Leu) NC_000017.11:58692715:G:T Identity +NM_000540.3:c.12487del NP_000531.2:p.Leu4163fs NC_000019.10:38561315:CC:C p.(Leu4163TrpfsTer47) NC_000019.10:38561315:CC:C p.(Leu4163TrpfsTer47) NC_000019.10:38561316:C: Analogous +NM_000816.3:c.49C>G NP_000807.2:p.Pro17Ala NC_000005.10:162068047:C:G p.(Pro17Ala) NC_000005.10:162068047:C:G p.(Pro17Ala) NC_000005.10:162068047:C:G Identity +NM_000245.4:c.3859G>A NP_000236.2:p.Val1287Ile NC_000007.14:116795714:G:A p.(Val1287Ile) NC_000007.14:116795714:G:A p.(Val1287Ile) NC_000007.14:116795714:G:A Identity +NM_001178129.2:c.140T>A NP_001171600.1:p.Met47Lys NC_000007.14:83469258:A:T p.(Met47Lys) NC_000007.14:83469258:A:T p.(Met47Lys) NC_000007.14:83469258:A:T Identity +NM_002838.5:c.3304C>T NP_002829.3:p.Arg1102Cys NC_000001.11:198752344:C:T p.(Arg1102Cys) NC_000001.11:198752344:C:T p.(Arg1102Cys) NC_000001.11:198752344:C:T Identity +NM_000548.5:c.1757T>C NP_000539.2:p.Val586Ala NC_000016.10:2070495:T:C p.(Val586Ala) NC_000016.10:2070495:T:C p.(Val586Ala) NC_000016.10:2070495:T:C Identity +NM_001272003.2:c.2314T>C NP_001258932.1:p.Phe772Leu NC_000009.12:135777436:T:C p.(Phe772Leu) NC_000009.12:135777436:T:C p.(Phe772Leu) NC_000009.12:135777436:T:C Identity +NM_000081.4:c.1111C>G NP_000072.2:p.Pro371Ala NC_000001.11:235809706:G:C p.(Pro371Ala) NC_000001.11:235809706:G:C p.(Pro371Ala) NC_000001.11:235809706:G:C Identity +NM_001134363.3:c.1765C>T NP_001127835.2:p.Arg589Trp NC_000010.11:110799882:C:T p.(Arg589Trp) NC_000010.11:110799882:C:T p.(Arg589Trp) NC_000010.11:110799882:C:T Identity +NM_000245.4:c.2786A>G NP_000236.2:p.Gln929Arg NC_000007.14:116771552:A:G p.(Gln929Arg) NC_000007.14:116771552:A:G p.(Gln929Arg) NC_000007.14:116771552:A:G Identity +NM_001363691.2:c.470G>A NP_001350620.1:p.Arg157His NC_000001.11:113911439:G:A p.(Arg157His) NC_000001.11:113911439:G:A p.(Arg157His) NC_000001.11:113911439:G:A Identity +NM_001943.5:c.3205A>G NP_001934.2:p.Met1069Val NC_000018.10:31546590:A:G p.(Met1069Val) NC_000018.10:31546590:A:G p.(Met1069Val) NC_000018.10:31546590:A:G Identity +NM_001365999.1:c.1213G>C NP_001352928.1:p.Val405Leu NC_000001.11:43420274:G:C p.(Val405Leu) NC_000001.11:43420274:G:C p.(Val405Leu) NC_000001.11:43420274:G:C Identity +NM_015512.5:c.6788A>G NP_056327.4:p.Asn2263Ser NC_000003.12:52372347:A:G p.(Asn2263Ser) NC_000003.12:52372347:A:G p.(Asn2263Ser) NC_000003.12:52372347:A:G Identity +NM_000179.3:c.3640G>C NP_000170.1:p.Glu1214Gln NC_000002.12:47805700:G:C p.(Glu1214Gln) NC_000002.12:47805700:G:C p.(Glu1214Gln) NC_000002.12:47805700:G:C Identity +NM_001999.4:c.3984A>T NP_001990.2:p.Glu1328Asp NC_000005.10:128334833:T:A p.(Glu1328Asp) NC_000005.10:128334833:T:A p.(Glu1328Asp) NC_000005.10:128334833:T:A Identity +NM_000364.4:c.650A>T NP_000355.2:p.Lys217Met NC_000001.11:201361972:T:A p.(Lys217Met) NC_000001.11:201361972:T:A p.(Lys217Met) NC_000001.11:201361972:T:A Identity +NM_001048171.2:c.1441A>G NP_001041636.2:p.Lys481Glu NC_000001.11:45329430:T:C p.(Lys481Glu) NC_000001.11:45329430:T:C p.(Lys481Glu) NC_000001.11:45329430:T:C Identity +NM_015295.3:c.3716G>A NP_056110.2:p.Arg1239His NC_000018.10:2743842:G:A p.(Arg1239His) NC_000018.10:2743842:G:A p.(Arg1239His) NC_000018.10:2743842:G:A Identity +NM_000255.4:c.322del NP_000246.2:p.Arg108fs NC_000006.12:49459144:GG:G p.(Arg108AlafsTer72) NC_000006.12:49459144:GG:G p.(Arg108AlafsTer72) NC_000006.12:49459144:G: Analogous +NM_000245.4:c.1626C>A NP_000236.2:p.His542Gln NC_000007.14:116740949:C:A p.(His542Gln) NC_000007.14:116740949:C:A p.(His542Gln) NC_000007.14:116740949:C:A Identity +NM_000297.4:c.2837C>T NP_000288.1:p.Pro946Leu NC_000004.12:88075623:C:T p.(Pro946Leu) NC_000004.12:88075623:C:T p.(Pro946Leu) NC_000004.12:88075623:C:T Identity +NM_001040108.2:c.3331C>T NP_001035197.1:p.Leu1111Phe NC_000014.9:75042426:G:A p.(Leu1111Phe) NC_000014.9:75042426:G:A p.(Leu1111Phe) NC_000014.9:75042426:G:A Identity +NM_017890.5:c.2536C>G NP_060360.3:p.Leu846Val NC_000008.11:99274217:C:G p.(Leu846Val) NC_000008.11:99274217:C:G p.(Leu846Val) NC_000008.11:99274217:C:G Identity +NM_014714.4:c.2432G>T NP_055529.2:p.Cys811Phe NC_000016.10:1526763:C:A p.(Cys811Phe) NC_000016.10:1526763:C:A p.(Cys811Phe) NC_000016.10:1526763:C:A Identity +NM_001282948.2:c.4399A>C NP_001269877.1:p.Thr1467Pro NC_000010.11:63206723:T:G p.(Thr1467Pro) NC_000010.11:63206723:T:G p.(Thr1467Pro) NC_000010.11:63206723:T:G Identity +NM_000355.4:c.1229C>G NP_000346.2:p.Ala410Gly NC_000022.11:30626465:C:G p.(Ala410Gly) NC_000022.11:30626465:C:G p.(Ala410Gly) NC_000022.11:30626465:C:G Identity +NM_000350.3:c.2311A>T NP_000341.2:p.Thr771Ser NC_000001.11:94056671:T:A p.(Thr771Ser) NC_000001.11:94056671:T:A p.(Thr771Ser) NC_000001.11:94056671:T:A Identity +NM_001319074.4:c.209G>A NP_001306003.2:p.Arg70His NC_000019.10:3771533:C:T p.(Arg70His) NC_000019.10:3771533:C:T p.(Arg70His) NC_000019.10:3771533:C:T Identity +NM_000057.4:c.2539A>C NP_000048.1:p.Ile847Leu NC_000015.10:90769569:A:C p.(Ile847Leu) NC_000015.10:90769569:A:C p.(Ile847Leu) NC_000015.10:90769569:A:C Identity +NM_000051.4:c.342G>C NP_000042.3:p.Arg114Ser NC_000011.10:108235679:G:C p.(Arg114Ser) NC_000011.10:108235679:G:C p.(Arg114Ser) NC_000011.10:108235679:G:C Identity +NM_014141.6:c.2734G>A NP_054860.1:p.Gly912Ser NC_000007.14:148147669:G:A p.(Gly912Ser) NC_000007.14:148147669:G:A p.(Gly912Ser) NC_000007.14:148147669:G:A Identity +NM_000628.5:c.120G>A NP_000619.3:p.Trp40Ter NC_000021.9:33268463:G:A p.(Trp40Ter) NC_000021.9:33268463:G:A p.(Trp40Ter) NC_000021.9:33268463:G:A Identity +NM_000038.6:c.3449A>T NP_000029.2:p.Glu1150Val NC_000005.10:112839042:A:T p.(Glu1150Val) NC_000005.10:112839042:A:T p.(Glu1150Val) NC_000005.10:112839042:A:T Identity +NM_001080115.2:c.944G>A NP_001073584.1:p.Arg315His NC_000010.11:86699324:G:A p.(Arg315His) NC_000010.11:86699324:G:A p.(Arg315His) NC_000010.11:86699324:G:A Identity +NM_001330588.2:c.3349C>A NP_001317517.1:p.Pro1117Thr NC_000013.11:102664902:C:A p.(Pro1117Thr) NC_000013.11:102664902:C:A p.(Pro1117Thr) NC_000013.11:102664902:C:A Identity +NM_006231.4:c.5318G>A NP_006222.2:p.Gly1773Asp NC_000012.12:132641706:C:T p.(Gly1773Asp) NC_000012.12:132641706:C:T p.(Gly1773Asp) NC_000012.12:132641706:C:T Identity +NM_001184985.2:c.2852C>T NP_001171914.1:p.Ala951Val NC_000012.12:868577:C:T p.(Ala951Val) NC_000012.12:868577:C:T p.(Ala951Val) NC_000012.12:868577:C:T Identity +NM_000445.5:c.4476G>C NP_000436.2:p.Glu1492Asp NC_000008.11:143925533:C:G p.(Glu1492Asp) NC_000008.11:143925533:C:G p.(Glu1492Asp) NC_000008.11:143925533:C:G Identity +NM_001362949.2:c.1299G>T NP_001349878.1:p.Gln433His NC_000022.11:33316236:C:A p.(Gln433His) NC_000022.11:33316236:C:A p.(Gln433His) NC_000022.11:33316236:C:A Identity +NM_001272073.2:c.2177C>A NP_001259002.1:p.Pro726His NC_000003.12:49098058:G:T p.(Pro726His) NC_000003.12:49098058:G:T p.(Pro726His) NC_000003.12:49098058:G:T Identity +NM_002500.5:c.260A>G NP_002491.3:p.Lys87Arg NC_000002.12:181678600:T:C p.(Lys87Arg) NC_000002.12:181678600:T:C p.(Lys87Arg) NC_000002.12:181678600:T:C Identity +NM_001277115.2:c.7324A>C NP_001264044.1:p.Lys2442Gln NC_000007.14:21725867:A:C p.(Lys2442Gln) NC_000007.14:21725867:A:C p.(Lys2442Gln) NC_000007.14:21725867:A:C Identity +NM_000489.6:c.2348G>C NP_000480.3:p.Ser783Thr NC_000023.11:77682907:C:G p.(Ser783Thr) NC_000023.11:77682907:C:G p.(Ser783Thr) NC_000023.11:77682907:C:G Identity +NM_002180.3:c.2359C>T NP_002171.2:p.Pro787Ser NC_000011.10:68936838:C:T p.(Pro787Ser) NC_000011.10:68936838:C:T p.(Pro787Ser) NC_000011.10:68936838:C:T Identity +NM_001130438.3:c.5264A>G NP_001123910.1:p.Lys1755Arg NC_000009.12:128615746:A:G p.(Lys1755Arg) NC_000009.12:128615746:A:G p.(Lys1755Arg) NC_000009.12:128615746:A:G Identity +NM_001252020.2:c.992C>T NP_001238949.1:p.Ala331Val NC_000015.10:31063141:G:A p.(Ala331Val) NC_000015.10:31063141:G:A p.(Ala331Val) NC_000015.10:31063141:G:A Identity +NM_001169122.2:c.1139C>T NP_001162593.1:p.Ser380Phe NC_000023.11:148843408:C:T p.(Ser380Phe) NC_000023.11:148843408:C:T p.(Ser380Phe) NC_000023.11:148843408:C:T Identity +NM_000541.5:c.154G>C NP_000532.2:p.Asp52His NC_000002.12:233318767:G:C p.(Asp52His) NC_000002.12:233318767:G:C p.(Asp52His) NC_000002.12:233318767:G:C Identity +NM_000744.7:c.1183A>G NP_000735.1:p.Thr395Ala NC_000020.11:63350227:T:C p.(Thr395Ala) NC_000020.11:63350227:T:C p.(Thr395Ala) NC_000020.11:63350227:T:C Identity +NM_000268.4:c.1038G>T NP_000259.1:p.Arg346Ser NC_000022.11:29671863:G:T p.(Arg346Ser) NC_000022.11:29671863:G:T p.(Arg346Ser) NC_000022.11:29671863:G:T Identity +NM_001114636.2:c.676C>T NP_001108108.1:p.Arg226Trp NC_000002.12:58165753:G:A p.(Arg226Trp) NC_000002.12:58165753:G:A p.(Arg226Trp) NC_000002.12:58165753:G:A Identity +NM_003373.4:c.664G>T NP_003364.1:p.Gly222Cys NC_000010.11:74074783:G:T p.(Gly222Cys) NC_000010.11:74074783:G:T p.(Gly222Cys) NC_000010.11:74074783:G:T Identity +NM_025114.4:c.4268G>A NP_079390.3:p.Arg1423His NC_000012.12:88086424:C:T p.(Arg1423His) NC_000012.12:88086424:C:T p.(Arg1423His) NC_000012.12:88086424:C:T Identity +NM_000544.3:c.661A>G NP_000535.3:p.Ile221Val NC_000006.12:32835720:T:C p.(Ile221Val) NT_167244.2:4140586:T:C p.(Ile221Val) NC_000006.12:4140586:T:C Identity +NM_000215.4:c.136G>A NP_000206.2:p.Gly46Arg NC_000019.10:17844281:C:T p.(Gly46Arg) NC_000019.10:17844281:C:T p.(Gly46Arg) NC_000019.10:17844281:C:T Identity +NM_001278055.2:c.6019G>T NP_001264984.1:p.Ala2007Ser NC_000013.11:23337415:C:A p.(Ala2007Ser) NC_000013.11:23337415:C:A p.(Ala2007Ser) NC_000013.11:23337415:C:A Identity +NM_001256850.1:c.98369C>G NP_001243779.1:p.Thr32790Arg NC_000002.12:178533322:G:C p.(Thr32790Arg) NC_000002.12:178533322:G:C p.(Thr32790Arg) NC_000002.12:178533322:G:C Identity +NM_001099400.2:c.1003C>T NP_001092870.1:p.Leu335Phe NC_000007.14:94600679:G:A p.(Leu335Phe) NC_000007.14:94600679:G:A p.(Leu335Phe) NC_000007.14:94600679:G:A Identity +NM_001377948.1:c.1433C>A NP_001364877.1:p.Thr478Asn NC_000014.9:21325969:C:A p.(Thr478Asn) NC_000014.9:21325969:C:A p.(Thr478Asn) NC_000014.9:21325969:C:A Identity +NM_001134830.2:c.1889del NP_001128302.1:p.Ser630fs NC_000006.12:135442604:C: p.(Ser630ThrfsTer18) NC_000006.12:135442604:C: p.(Ser630ThrfsTer18) NC_000006.12:135442604:C: Analogous +NM_001382361.1:c.608C>T NP_001369290.1:p.Pro203Leu NC_000011.10:64211367:C:T p.(Pro203Leu) NC_000011.10:64211367:C:T p.(Pro203Leu) NC_000011.10:64211367:C:T Identity +NM_000086.2:c.397A>G NP_000077.1:p.Ile133Val NC_000016.10:28487518:T:C p.(Ile133Val) NC_000016.10:28487518:T:C p.(Ile133Val) NC_000016.10:28487518:T:C Identity +NM_014908.4:c.489G>T NP_055723.1:p.Glu163Asp NC_000009.12:128946814:C:A p.(Glu163Asp) NC_000009.12:128946814:C:A p.(Glu163Asp) NC_000009.12:128946814:C:A Identity +NM_021620.4:c.113C>T NP_067633.2:p.Ser38Leu NC_000006.12:99607146:C:T p.(Ser38Leu) NC_000006.12:99607146:C:T p.(Ser38Leu) NC_000006.12:99607146:C:T Identity +NM_000152.5:c.759del NP_000143.2:p.Ser254fs NC_000017.11:80107620:CCC:CC p.(Ser254ArgfsTer14) NC_000017.11:80107620:CCC:CC p.(Ser254ArgfsTer14) NC_000017.11:80107622:C: Analogous +NM_006267.5:c.4084T>C NP_006258.3:p.Ser1362Pro NC_000002.12:108764622:T:C p.(Ser1362Pro) NC_000002.12:108764622:T:C p.(Ser1362Pro) NC_000002.12:108764622:T:C Identity +NM_001848.3:c.1489G>A NP_001839.2:p.Gly497Arg NC_000021.9:45997726:G:A p.(Gly497Arg) NC_000021.9:45997726:G:A p.(Gly497Arg) NC_000021.9:45997726:G:A Identity +NM_001148.6:c.5047C>A NP_001139.3:p.Pro1683Thr NC_000004.12:113353664:C:A p.(Pro1683Thr) NC_000004.12:113353664:C:A p.(Pro1683Thr) NC_000004.12:113353664:C:A Identity +NM_003680.4:c.1227C>A NP_003671.1:p.Phe409Leu NC_000001.11:32780191:G:T p.(Phe409Leu) NC_000001.11:32780191:G:T p.(Phe409Leu) NC_000001.11:32780191:G:T Identity +NM_213655.5:c.2278C>T NP_998820.3:p.Pro760Ser NC_000012.12:865247:C:T p.(Pro760Ser) NC_000012.12:865247:C:T p.(Pro760Ser) NC_000012.12:865247:C:T Identity +NM_004370.6:c.3634C>T NP_004361.3:p.Arg1212Trp NC_000006.12:75152413:G:A p.(Arg1212Trp) NC_000006.12:75152413:G:A p.(Arg1212Trp) NC_000006.12:75152413:G:A Identity +NM_001256850.1:c.96706C>T NP_001243779.1:p.His32236Tyr NC_000002.12:178534985:G:A p.(His32236Tyr) NC_000002.12:178534985:G:A p.(His32236Tyr) NC_000002.12:178534985:G:A Identity +NM_015072.5:c.3785T>C NP_055887.3:p.Leu1262Pro NC_000014.9:75902185:T:C p.(Leu1262Pro) NC_000014.9:75902185:T:C p.(Leu1262Pro) NC_000014.9:75902185:T:C Identity +NM_000815.5:c.649A>T NP_000806.2:p.Thr217Ser NC_000001.11:2028249:A:T p.(Thr217Ser) NC_000001.11:2028249:A:T p.(Thr217Ser) NC_000001.11:2028249:A:T Identity +NM_001286130.2:c.2587G>A NP_001273059.1:p.Val863Ile NC_000016.10:57904762:C:T p.(Val863Ile) NC_000016.10:57904762:C:T p.(Val863Ile) NC_000016.10:57904762:C:T Identity +NM_015180.6:c.20033C>T NP_055995.4:p.Ala6678Val NC_000014.9:64221615:C:T p.(Ala6678Val) NC_000014.9:64221615:C:T p.(Ala6678Val) NC_000014.9:64221615:C:T Identity +NM_004260.4:c.677C>G NP_004251.4:p.Ala226Gly NC_000008.11:144516441:G:C p.(Ala226Gly) NC_000008.11:144516441:G:C p.(Ala226Gly) NC_000008.11:144516441:G:C Identity +NM_001048171.2:c.340G>A NP_001041636.2:p.Val114Ile NC_000001.11:45333134:C:T p.(Val114Ile) NC_000001.11:45333134:C:T p.(Val114Ile) NC_000001.11:45333134:C:T Identity +NM_001081676.2:c.4444A>G NP_001075145.1:p.Ser1482Gly NC_000002.12:165092469:T:C p.(Ser1482Gly) NC_000002.12:165092469:T:C p.(Ser1482Gly) NC_000002.12:165092469:T:C Identity +NM_015243.3:c.2243A>G NP_056058.2:p.Asp748Gly NC_000008.11:99170072:A:G p.(Asp748Gly) NC_000008.11:99170072:A:G p.(Asp748Gly) NC_000008.11:99170072:A:G Identity +NM_001002019.3:c.879_880del NP_001002019.1:p.Lys294fs NC_000012.12:131941706:AGAGA:AGA p.(Lys294GlyfsTer32) NC_000012.12:131941706:AGAGA:AGA p.(Lys294GlyfsTer32) NC_000012.12:131941709:GA: Analogous +NM_006036.4:c.1187A>T NP_006027.2:p.Asp396Val NC_000002.12:44332624:T:A p.(Asp396Val) NC_000002.12:44332624:T:A p.(Asp396Val) NC_000002.12:44332624:T:A Identity +NM_000813.3:c.1396A>G NP_000804.1:p.Ile466Val NC_000005.10:161294109:T:C p.(Ile466Val) NC_000005.10:161294109:T:C p.(Ile466Val) NC_000005.10:161294109:T:C Identity +NM_032043.3:c.3181A>C NP_114432.2:p.Asn1061His NC_000017.11:61683864:T:G p.(Asn1061His) NC_000017.11:61683864:T:G p.(Asn1061His) NC_000017.11:61683864:T:G Identity +NM_001317184.2:c.1503_1504insCG NP_001304113.1:p.Ala502fs NC_000016.10:68819400::CG p.(Ala502ArgfsTer3) NC_000016.10:68819399:A:CG p.(Ala502ArgfsTer3) NC_000016.10:68819400:AG:CG Analogous +NM_000489.6:c.5751A>T NP_000480.3:p.Glu1917Asp NC_000023.11:77599766:T:A p.(Glu1917Asp) NC_000023.11:77599766:T:A p.(Glu1917Asp) NC_000023.11:77599766:T:A Identity +NM_000268.4:c.785G>A NP_000259.1:p.Arg262Gln NC_000022.11:29661313:G:A p.(Arg262Gln) NC_000022.11:29661313:G:A p.(Arg262Gln) NC_000022.11:29661313:G:A Identity +NM_000293.3:c.1120A>G NP_000284.1:p.Ile374Val NC_000016.10:47593550:A:G p.(Ile374Val) NC_000016.10:47593550:A:G p.(Ile374Val) NC_000016.10:47593550:A:G Identity +NM_001145661.2:c.1205A>G NP_001139133.1:p.Asn402Ser NC_000003.12:128481256:T:C p.(Asn402Ser) NC_000003.12:128481256:T:C p.(Asn402Ser) NC_000003.12:128481256:T:C Identity +NM_000388.4:c.1622A>C NP_000379.3:p.Asn541Thr NC_000003.12:122282125:A:C p.(Asn541Thr) NC_000003.12:122282125:A:C p.(Asn541Thr) NC_000003.12:122282125:A:C Identity +NM_000180.4:c.1984G>A NP_000171.1:p.Val662Met NC_000017.11:8012476:G:A p.(Val662Met) NC_000017.11:8012476:G:A p.(Val662Met) NC_000017.11:8012476:G:A Identity +NM_000083.3:c.2363A>C NP_000074.3:p.Gln788Pro NC_000007.14:143346656:A:C p.(Gln788Pro) NC_000007.14:143346656:A:C p.(Gln788Pro) NC_000007.14:143346656:A:C Identity +NM_004304.5:c.914A>G NP_004295.2:p.Asp305Gly NC_000002.12:29694887:T:C p.(Asp305Gly) NC_000002.12:29694887:T:C p.(Asp305Gly) NC_000002.12:29694887:T:C Identity +NM_000222.3:c.1276C>G NP_000213.1:p.Leu426Val NC_000004.12:54723627:C:G p.(Leu426Val) NC_000004.12:54723627:C:G p.(Leu426Val) NC_000004.12:54723627:C:G Identity +NM_001161705.2:c.523C>T NP_001155177.1:p.Gln175Ter NC_000020.11:17498877:G:A p.(Gln175Ter) NC_000020.11:17498877:G:A p.(Gln175Ter) NC_000020.11:17498877:G:A Identity +NM_005732.4:c.1592A>C NP_005723.2:p.His531Pro NC_000005.10:132591362:A:C p.(His531Pro) NC_000005.10:132591362:A:C p.(His531Pro) NC_000005.10:132591362:A:C Identity +NM_001286256.2:c.53G>C NP_001273185.1:p.Gly18Ala NC_000012.12:57249204:C:G p.(Gly18Ala) NC_000012.12:57249204:C:G p.(Gly18Ala) NC_000012.12:57249204:C:G Identity +NM_001354263.2:c.3511G>A NP_001341192.1:p.Asp1171Asn NC_000009.12:137818129:G:A p.(Asp1171Asn) NC_000009.12:137818129:G:A p.(Asp1171Asn) NC_000009.12:137818129:G:A Identity +NM_001080116.1:c.643G>A NP_001073585.1:p.Glu215Lys NC_000010.11:86691989:G:A p.(Glu215Lys) NC_000010.11:86691989:G:A p.(Glu215Lys) NC_000010.11:86691989:G:A Identity +NM_001253815.2:c.245G>A NP_001240744.1:p.Arg82Gln NC_000008.11:144359736:G:A p.(Arg82Gln) NC_000008.11:144359736:G:A p.(Arg82Gln) NC_000008.11:144359736:G:A Identity +NM_001048171.2:c.1420C>A NP_001041636.2:p.Pro474Thr NC_000001.11:45330529:G:T p.(Pro474Thr) NC_000001.11:45330529:G:T p.(Pro474Thr) NC_000001.11:45330529:G:T Identity +NM_001006657.2:c.2969G>A NP_001006658.1:p.Arg990Gln NC_000002.12:19931296:C:T p.(Arg990Gln) NC_000002.12:19931296:C:T p.(Arg990Gln) NC_000002.12:19931296:C:T Identity +NM_019098.5:c.82G>A NP_061971.3:p.Glu28Lys NC_000008.11:86743545:C:T p.(Glu28Lys) NC_000008.11:86743545:C:T p.(Glu28Lys) NC_000008.11:86743545:C:T Identity +NM_000026.4:c.1235C>T NP_000017.1:p.Ser412Phe NC_000022.11:40364922:C:T p.(Ser412Phe) NC_000022.11:40364922:C:T p.(Ser412Phe) NC_000022.11:40364922:C:T Identity +NM_000249.4:c.425G>T NP_000240.1:p.Cys142Phe NC_000003.12:37007034:G:T p.(Cys142Phe) NC_000003.12:37007034:G:T p.(Cys142Phe) NC_000003.12:37007034:G:T Identity +NM_001297644.1:c.908_910del NP_001284573.1:p.Gly303del NC_000005.10:64804353:AGGAG:AG p.(Gly303del) NC_000005.10:64804353:AGGAG:AG p.(Gly303del) NC_000005.10:64804355:GAG: Identity +NM_000057.4:c.2983T>A NP_000048.1:p.Tyr995Asn NC_000015.10:90790807:T:A p.(Tyr995Asn) NC_000015.10:90790807:T:A p.(Tyr995Asn) NC_000015.10:90790807:T:A Identity +NM_001105243.2:c.471dup NP_001098713.1:p.Ser158fs NC_000023.11:100408126:G:GG p.(Ser158LeufsTer68) NC_000023.11:100408126:G:GG p.(Ser158LeufsTer68) ERR:SPDI Analogous +NM_004260.4:c.1804G>T NP_004251.4:p.Ala602Ser NC_000008.11:144514262:C:A p.(Ala602Ser) NC_000008.11:144514262:C:A p.(Ala602Ser) NC_000008.11:144514262:C:A Identity +NM_001277115.2:c.12269G>T NP_001264044.1:p.Cys4090Phe NC_000007.14:21880774:G:T p.(Cys4090Phe) NC_000007.14:21880774:G:T p.(Cys4090Phe) NC_000007.14:21880774:G:T Identity +NM_001204824.2:c.1528C>A NP_001191753.1:p.Gln510Lys NC_000008.11:132129992:G:T p.(Gln510Lys) NC_000008.11:132129992:G:T p.(Gln510Lys) NC_000008.11:132129992:G:T Identity +NM_000833.5:c.1970A>C NP_000824.1:p.Glu657Ala NC_000016.10:9829459:T:G p.(Glu657Ala) NC_000016.10:9829459:T:G p.(Glu657Ala) NC_000016.10:9829459:T:G Identity +NM_000020.3:c.1133C>G NP_000011.2:p.Pro378Arg NC_000012.12:51916119:C:G p.(Pro378Arg) NC_000012.12:51916119:C:G p.(Pro378Arg) NC_000012.12:51916119:C:G Identity +NM_001134363.3:c.321G>C NP_001127835.2:p.Gln107His NC_000010.11:110780929:G:C p.(Gln107His) NC_000010.11:110780929:G:C p.(Gln107His) NC_000010.11:110780929:G:C Identity +NM_000323.2:c.1631G>A NP_000314.1:p.Arg544Lys NC_000010.11:43112206:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001318193.2:c.646C>T NP_001305122.2:p.Leu216Phe NC_000016.10:2040021:G:A p.(Leu216Phe) NC_000016.10:2040021:G:A p.(Leu216Phe) NC_000016.10:2040021:G:A Identity +NM_020964.3:c.4250A>C NP_066015.2:p.Gln1417Pro NC_000018.10:45908036:T:G p.(Gln1417Pro) NC_000018.10:45908036:T:G p.(Gln1417Pro) NC_000018.10:45908036:T:G Identity +NM_017780.4:c.1966C>T NP_060250.2:p.Pro656Ser NC_000008.11:60781299:C:T p.(Pro656Ser) NC_000008.11:60781299:C:T p.(Pro656Ser) NC_000008.11:60781299:C:T Identity +NM_000069.3:c.2055G>C NP_000060.2:p.Lys685Asn NC_000001.11:201074513:C:G p.(Lys685Asn) NC_000001.11:201074513:C:G p.(Lys685Asn) NC_000001.11:201074513:C:G Identity +NM_001256850.1:c.75202_75203dup NP_001243779.1:p.Asp25069fs NC_000002.12:178566005:AT:ATAT p.(Asp25069LeufsTer11) NC_000002.12:178566005:AT:ATAT p.(Asp25069LeufsTer11) ERR:SPDI Analogous +NM_000057.4:c.3533A>C NP_000048.1:p.Gln1178Pro NC_000015.10:90803694:A:C p.(Gln1178Pro) NC_000015.10:90803694:A:C p.(Gln1178Pro) NC_000015.10:90803694:A:C Identity +NM_001035.3:c.1196T>C NP_001026.2:p.Met399Thr NC_000001.11:237445425:T:C p.(Met399Thr) NC_000001.11:237445425:T:C p.(Met399Thr) NC_000001.11:237445425:T:C Identity +NM_002661.5:c.3001C>T NP_002652.2:p.Arg1001Cys NC_000016.10:81936326:C:T p.(Arg1001Cys) NC_000016.10:81936326:C:T p.(Arg1001Cys) NC_000016.10:81936326:C:T Identity +NM_001165928.4:c.643C>T NP_001159400.3:p.Arg215Trp NC_000003.12:49531153:C:T p.(Arg215Trp) NC_000003.12:49531153:C:T p.(Arg215Trp) NC_000003.12:49531153:C:T Identity +NM_000059.4:c.10199G>A NP_000050.3:p.Ser3400Asn NC_000013.11:32398711:G:A p.(Ser3400Asn) NC_000013.11:32398711:G:A p.(Ser3400Asn) NC_000013.11:32398711:G:A Identity +NM_003320.5:c.523G>A NP_003311.2:p.Gly175Ser NC_000011.10:8094149:G:A p.(Gly175Ser) NC_000011.10:8094149:G:A p.(Gly175Ser) NC_000011.10:8094149:G:A Identity +NM_001353960.2:c.2085del NP_001340889.1:p.Glu696fs NC_000002.12:166042295:T: p.(Glu696LysfsTer22) NC_000002.12:166042295:T: p.(Glu696LysfsTer22) NC_000002.12:166042295:T: Analogous +NM_015164.4:c.1325C>G NP_055979.2:p.Pro442Arg NC_000001.11:15727396:C:G p.(Pro442Arg) NC_000001.11:15727396:C:G p.(Pro442Arg) NC_000001.11:15727396:C:G Identity +NM_001135599.4:c.59G>A NP_001129071.1:p.Ser20Asn NC_000001.11:218346759:G:A p.(Ser20Asn) NC_000001.11:218346759:G:A p.(Ser20Asn) NC_000001.11:218346759:G:A Identity +NM_000548.5:c.1787T>A NP_000539.2:p.Leu596His NC_000016.10:2070525:T:A p.(Leu596His) NC_000016.10:2070525:T:A p.(Leu596His) NC_000016.10:2070525:T:A Identity +NM_000218.3:c.1809C>A NP_000209.2:p.Asp603Glu NC_000011.10:2847780:C:A p.(Asp603Glu) NC_000011.10:2847780:C:A p.(Asp603Glu) NC_000011.10:2847780:C:A Identity +NM_000068.4:c.2369del NP_000059.3:p.Leu790fs NC_000019.10:13299275:AA:A p.(Leu790CysfsTer30) NC_000019.10:13299275:AA:A p.(Leu790CysfsTer30) NC_000019.10:13299275:A: Analogous +NM_000179.3:c.2911_2913del NP_000170.1:p.Gly971del NC_000002.12:47800891:GGGGG:GG p.(Gly971del) NC_000002.12:47800891:GGGGG:GG p.(Gly971del) NC_000002.12:47800893:GGG: Identity +NM_001283009.2:c.3900G>T NP_001269938.1:p.Gln1300His NC_000020.11:63695854:G:T p.(Gln1300His) NC_000020.11:63695854:G:T p.(Gln1300His) NC_000020.11:63695854:G:T Identity +NM_006231.4:c.1974G>T NP_006222.2:p.Lys658Asn NC_000012.12:132668686:C:A p.(Lys658Asn) NC_000012.12:132668686:C:A p.(Lys658Asn) NC_000012.12:132668686:C:A Identity +NM_001035.3:c.1643G>A NP_001026.2:p.Cys548Tyr NC_000001.11:237469121:G:A p.(Cys548Tyr) NC_000001.11:237469121:G:A p.(Cys548Tyr) NC_000001.11:237469121:G:A Identity +NM_001301738.2:c.814G>A NP_001288667.1:p.Gly272Ser NC_000005.10:139476399:C:T p.(Gly272Ser) NC_000005.10:139476399:C:T p.(Gly272Ser) NC_000005.10:139476399:C:T Identity +NM_017780.4:c.4738G>T NP_060250.2:p.Glu1580Ter NC_000008.11:60841939:G:T p.(Glu1580Ter) NC_000008.11:60841939:G:T p.(Glu1580Ter) NC_000008.11:60841939:G:T Identity +NM_001204824.2:c.1159C>G NP_001191753.1:p.Pro387Ala NC_000008.11:132140124:G:C p.(Pro387Ala) NC_000008.11:132140124:G:C p.(Pro387Ala) NC_000008.11:132140124:G:C Identity +NM_000051.4:c.3254T>C NP_000042.3:p.Val1085Ala NC_000011.10:108272821:T:C p.(Val1085Ala) NC_000011.10:108272821:T:C p.(Val1085Ala) NC_000011.10:108272821:T:C Identity +NM_001318832.2:c.4559C>A NP_001305761.1:p.Thr1520Lys NC_000016.10:2086256:C:A p.(Thr1520Lys) NC_000016.10:2086256:C:A p.(Thr1520Lys) NC_000016.10:2086256:C:A Identity +NM_001135659.3:c.1931G>A NP_001129131.1:p.Ser644Asn NC_000002.12:50538584:C:T p.(Ser644Asn) NC_000002.12:50538584:C:T p.(Ser644Asn) NC_000002.12:50538584:C:T Identity +NM_001127178.3:c.58A>G NP_001120650.1:p.Ile20Val NC_000004.12:499392:A:G p.(Ile20Val) NC_000004.12:499392:A:G p.(Ile20Val) NC_000004.12:499392:A:G Identity +NM_017838.4:c.335C>T NP_060308.1:p.Thr112Met NC_000005.10:178150888:G:A p.(Thr112Met) NC_000005.10:178150888:G:A p.(Thr112Met) NC_000005.10:178150888:G:A Identity +NM_006231.4:c.14G>A NP_006222.2:p.Ser5Asn NC_000012.12:132687301:C:T p.(Ser5Asn) NC_000012.12:132687301:C:T p.(Ser5Asn) NC_000012.12:132687301:C:T Identity +NM_000360.4:c.394G>A NP_000351.2:p.Val132Met NC_000011.10:2168583:C:T p.(Val132Met) NC_000011.10:2168583:C:T p.(Val132Met) NC_000011.10:2168583:C:T Identity +NM_001166108.2:c.2182G>C NP_001159580.1:p.Glu728Gln NC_000004.12:168894659:G:C p.(Glu728Gln) NC_000004.12:168894659:G:C p.(Glu728Gln) NC_000004.12:168894659:G:C Identity +NM_001363813.1:c.2303G>A NP_001350742.1:p.Gly768Asp NC_000017.11:65530009:C:T p.(Gly768Asp) NC_000017.11:65530009:C:T p.(Gly768Asp) NC_000017.11:65530009:C:T Identity +NM_001142463.3:c.64T>G NP_001135935.1:p.Leu22Val NC_000023.11:154764945:T:G p.(Leu22Val) NC_000023.11:154764945:T:G p.(Leu22Val) NC_000023.11:154764945:T:G Identity +NM_001270459.2:c.883G>A NP_001257388.1:p.Asp295Asn NC_000001.11:43920862:G:A p.(Asp295Asn) NC_000001.11:43920862:G:A p.(Asp295Asn) NC_000001.11:43920862:G:A Identity +NM_001386339.1:c.2101G>A NP_001373268.1:p.Asp701Asn NC_000011.10:9856719:C:T p.(Asp701Asn) NC_000011.10:9856719:C:T p.(Asp701Asn) NC_000011.10:9856719:C:T Identity +NM_006204.4:c.430G>T NP_006195.3:p.Gly144Cys NC_000010.11:93613154:G:T p.(Gly144Cys) NC_000010.11:93613154:G:T p.(Gly144Cys) NC_000010.11:93613154:G:T Identity +NM_001244008.2:c.4337G>T NP_001230937.1:p.Arg1446Leu NC_000002.12:240723539:C:A p.(Arg1446Leu) NC_000002.12:240723539:C:A p.(Arg1446Leu) NC_000002.12:240723539:C:A Identity +NM_000051.4:c.4762T>C NP_000042.3:p.Phe1588Leu NC_000011.10:108293462:T:C p.(Phe1588Leu) NC_000011.10:108293462:T:C p.(Phe1588Leu) NC_000011.10:108293462:T:C Identity +NM_004656.4:c.589G>A NP_004647.1:p.Gly197Arg NC_000003.12:52406898:C:T p.(Gly197Arg) NC_000003.12:52406898:C:T p.(Gly197Arg) NC_000003.12:52406898:C:T Identity +NM_001199777.2:c.457A>G NP_001186706.1:p.Asn153Asp NC_000012.12:89471706:T:C p.(Asn153Asp) NC_000012.12:89471706:T:C p.(Asn153Asp) NC_000012.12:89471706:T:C Identity +NM_001142800.2:c.3509G>A NP_001136272.1:p.Cys1170Tyr NC_000006.12:64626179:C:T p.(Cys1170Tyr) NC_000006.12:64626179:C:T p.(Cys1170Tyr) NC_000006.12:64626179:C:T Identity +NM_000222.3:c.2630C>T NP_000213.1:p.Ser877Phe NC_000004.12:54736753:C:T p.(Ser877Phe) NC_000004.12:54736753:C:T p.(Ser877Phe) NC_000004.12:54736753:C:T Identity +NM_001127214.4:c.1602dup NP_001120686.1:p.Glu535fs NC_000016.10:89146035:AAA:AAAA p.(Glu535ArgfsTer31) NC_000016.10:89146035:AAA:AAAA p.(Glu535ArgfsTer31) ERR:SPDI Analogous +NM_000393.5:c.1972C>T NP_000384.2:p.Pro658Ser NC_000002.12:189062869:G:A p.(Pro658Ser) NC_000002.12:189062869:G:A p.(Pro658Ser) NC_000002.12:189062869:G:A Identity +NM_000335.5:c.6024C>G NP_000326.2:p.Asp2008Glu NC_000003.12:38550344:G:C p.(Asp2008Glu) NC_000003.12:38550344:G:C p.(Asp2008Glu) NC_000003.12:38550344:G:C Identity +NM_000127.3:c.1677_1678insTGTCATCACAGAC NP_000118.2:p.Ala560fs NC_000008.11:117812916:GTCTGTGATGA:GTCTGTGATGACAGTCTGTGATGA p.(Ala560CysfsTer10) NC_000008.11:117812915:C:GTCTGTGATGACA p.(Ala560CysfsTer10) NC_000008.11:117812916:CG:GTCTGTGATGACA Analogous +NM_001160227.2:c.4873C>T NP_001153699.1:p.Leu1625Phe NC_000015.10:44589284:G:A p.(Leu1625Phe) NC_000015.10:44589284:G:A p.(Leu1625Phe) NC_000015.10:44589284:G:A Identity +NM_014014.5:c.3169G>A NP_054733.2:p.Ala1057Thr NC_000002.12:96289041:C:T p.(Ala1057Thr) NC_000002.12:96289041:C:T p.(Ala1057Thr) NC_000002.12:96289041:C:T Identity +NM_025014.2:c.386C>T NP_079290.1:p.Thr129Met NC_000017.11:8312424:C:T p.(Thr129Met) NC_000017.11:8312424:C:T p.(Thr129Met) NC_000017.11:8312424:C:T Identity +NM_001080124.2:c.770C>G NP_001073593.1:p.Thr257Arg NC_000002.12:201284827:C:G p.(Thr257Arg) NC_000002.12:201284827:C:G p.(Thr257Arg) NC_000002.12:201284827:C:G Identity +NM_000166.6:c.199C>T NP_000157.1:p.Gln67Ter NC_000023.11:71223905:C:T p.(Gln67Ter) NC_000023.11:71223905:C:T p.(Gln67Ter) NC_000023.11:71223905:C:T Identity +NM_001171930.2:c.2255del NP_001165401.1:p.Gly752fs NC_000010.11:71694220:GGGGG:GGGG p.(Gly752ValfsTer13) NC_000010.11:71694220:GGGGG:GGGG p.(Gly752ValfsTer13) NC_000010.11:71694224:G: Analogous +NM_003718.5:c.3182G>A NP_003709.3:p.Gly1061Asp NC_000007.14:40088277:G:A p.(Gly1061Asp) NC_000007.14:40088277:G:A p.(Gly1061Asp) NC_000007.14:40088277:G:A Identity +NM_001136536.5:c.990del NP_001130008.2:p.Phe330fs NC_000004.12:36308254:TTTT:TTT p.(Phe330LeufsTer2) NC_000004.12:36308254:TTTT:TTT p.(Phe330LeufsTer2) NC_000004.12:36308257:T: Analogous +NM_001171930.2:c.997A>T NP_001165401.1:p.Thr333Ser NC_000010.11:71617255:A:T p.(Thr333Ser) NC_000010.11:71617255:A:T p.(Thr333Ser) NC_000010.11:71617255:A:T Identity +NM_001165928.4:c.2116A>G NP_001159400.3:p.Thr706Ala NC_000003.12:49532626:A:G p.(Thr706Ala) NC_000003.12:49532626:A:G p.(Thr706Ala) NC_000003.12:49532626:A:G Identity +NM_001077494.3:c.1214C>T NP_001070962.1:p.Ala405Val NC_000010.11:102399383:C:T p.(Ala405Val) NC_000010.11:102399383:C:T p.(Ala405Val) NC_000010.11:102399383:C:T Identity +NM_000409.5:c.205G>C NP_000400.2:p.Gly69Arg NC_000006.12:42178282:G:C p.(Gly69Arg) NC_000006.12:42178282:G:C p.(Gly69Arg) NC_000006.12:42178282:G:C Identity +NM_000268.4:c.566C>T NP_000259.1:p.Thr189Ile NC_000022.11:29655642:C:T p.(Thr189Ile) NC_000022.11:29655642:C:T p.(Thr189Ile) NC_000022.11:29655642:C:T Identity +NM_001081640.2:c.8258G>A NP_001075109.1:p.Arg2753Gln NC_000008.11:47831820:C:T p.(Arg2753Gln) NC_000008.11:47831820:C:T p.(Arg2753Gln) NC_000008.11:47831820:C:T Identity +NM_000350.3:c.156T>G NP_000341.2:p.His52Gln NC_000001.11:94112976:A:C p.(His52Gln) NC_000001.11:94112976:A:C p.(His52Gln) NC_000001.11:94112976:A:C Identity +NM_001848.3:c.973C>T NP_001839.2:p.Arg325Cys NC_000021.9:45990392:C:T p.(Arg325Cys) NC_000021.9:45990392:C:T p.(Arg325Cys) NC_000021.9:45990392:C:T Identity +NM_001144996.2:c.1151T>C NP_001138468.1:p.Met384Thr NC_000012.12:55698435:A:G p.(Met384Thr) NC_000012.12:55698435:A:G p.(Met384Thr) NC_000012.12:55698435:A:G Identity +NM_000059.4:c.6604G>C NP_000050.3:p.Asp2202His NC_000013.11:32340958:G:C p.(Asp2202His) NC_000013.11:32340958:G:C p.(Asp2202His) NC_000013.11:32340958:G:C Identity +NM_001257281.2:c.1214A>G NP_001244210.1:p.Lys405Arg NC_000002.12:232238541:A:G p.(Lys405Arg) NC_000002.12:232238541:A:G p.(Lys405Arg) NC_000002.12:232238541:A:G Identity +NM_006231.4:c.233T>G NP_006222.2:p.Leu78Ter NC_000012.12:132680658:A:C p.(Leu78Ter) NC_000012.12:132680658:A:C p.(Leu78Ter) NC_000012.12:132680658:A:C Identity +NM_001031714.4:c.997A>G NP_001026884.3:p.Thr333Ala NC_000014.9:104707263:A:G p.(Thr333Ala) NC_000014.9:104707263:A:G p.(Thr333Ala) NC_000014.9:104707263:A:G Identity +NM_003079.5:c.893A>G NP_003070.3:p.Lys298Arg NC_000017.11:40630847:T:C p.(Lys298Arg) NC_000017.11:40630847:T:C p.(Lys298Arg) NC_000017.11:40630847:T:C Identity +NM_006922.4:c.1934A>C NP_008853.3:p.His645Pro NC_000002.12:165140735:T:G p.(His645Pro) NC_000002.12:165140735:T:G p.(His645Pro) NC_000002.12:165140735:T:G Identity +NM_000264.5:c.4202A>G NP_000255.2:p.Tyr1401Cys NC_000009.12:95447053:T:C p.(Tyr1401Cys) NC_000009.12:95447053:T:C p.(Tyr1401Cys) NC_000009.12:95447053:T:C Identity +NM_001145527.2:c.1601C>T NP_001138999.1:p.Thr534Ile NC_000009.12:137762773:C:T p.(Thr534Ile) NC_000009.12:137762773:C:T p.(Thr534Ile) NC_000009.12:137762773:C:T Identity +NM_001363147.1:c.562C>T NP_001350076.1:p.Arg188Ter NC_000005.10:71604405:C:T p.(Arg188Ter) NC_000005.10:71604405:C:T p.(Arg188Ter) NC_000005.10:71604405:C:T Identity +NM_032043.3:c.2938G>C NP_114432.2:p.Ala980Pro NC_000017.11:61684107:C:G p.(Ala980Pro) NC_000017.11:61684107:C:G p.(Ala980Pro) NC_000017.11:61684107:C:G Identity +NM_000548.5:c.1636G>T NP_000539.2:p.Glu546Ter NC_000016.10:2065554:G:T p.(Glu546Ter) NC_000016.10:2065554:G:T p.(Glu546Ter) NC_000016.10:2065554:G:T Identity +NM_001040875.4:c.688A>C NP_001035808.1:p.Asn230His NC_000008.11:74364181:A:C p.(Asn230His) NC_000008.11:74364181:A:C p.(Asn230His) NC_000008.11:74364181:A:C Identity +NM_006939.4:c.811A>G NP_008870.2:p.Ser271Gly NC_000014.9:50182509:T:C p.(Ser271Gly) NC_000014.9:50182509:T:C p.(Ser271Gly) NC_000014.9:50182509:T:C Identity +NM_001301834.1:c.247C>T NP_001288763.1:p.Arg83Cys NC_000012.12:6945787:C:T p.(Arg83Cys) NC_000012.12:6945787:C:T p.(Arg83Cys) NC_000012.12:6945787:C:T Identity +NM_001204255.2:c.256G>A NP_001191184.1:p.Val86Met NC_000004.12:76195725:C:T p.(Val86Met) NC_000004.12:76195725:C:T p.(Val86Met) NC_000004.12:76195725:C:T Identity +NM_001288951.2:c.2297C>G NP_001275880.1:p.Pro766Arg NC_000002.12:47060840:C:G p.(Pro766Arg) NC_000002.12:47060840:C:G p.(Pro766Arg) NC_000002.12:47060840:C:G Identity +NM_001256896.2:c.26C>A NP_001243825.1:p.Pro9His NC_000004.12:3492941:C:A p.(Pro9His) NC_000004.12:3492941:C:A p.(Pro9His) NC_000004.12:3492941:C:A Identity +NM_000118.4:c.278G>A NP_000109.1:p.Arg93Gln NC_000009.12:127829768:C:T p.(Arg93Gln) NC_000009.12:127829768:C:T p.(Arg93Gln) NC_000009.12:127829768:C:T Identity +NM_015512.5:c.1092C>G NP_056327.4:p.Cys364Trp NC_000003.12:52332199:C:G p.(Cys364Trp) NC_000003.12:52332199:C:G p.(Cys364Trp) NC_000003.12:52332199:C:G Identity +NM_000238.4:c.2482T>C NP_000229.1:p.Cys828Arg NC_000007.14:150948965:A:G p.(Cys828Arg) NC_000007.14:150948965:A:G p.(Cys828Arg) NC_000007.14:150948965:A:G Identity +NM_004958.4:c.3214C>T NP_004949.1:p.Pro1072Ser NC_000001.11:11213469:G:A p.(Pro1072Ser) NC_000001.11:11213469:G:A p.(Pro1072Ser) NC_000001.11:11213469:G:A Identity +NM_001257374.3:c.1270del NP_001244303.1:p.Glu424fs NC_000001.11:156137226:GGGG:GGG p.(Glu424LysfsTer12) NC_000001.11:156137226:GGGG:GGG p.(Glu424LysfsTer12) NC_000001.11:156137229:G: Analogous +NM_000222.3:c.164G>A NP_000213.1:p.Arg55Lys NC_000004.12:54695607:G:A p.(Arg55Lys) NC_000004.12:54695607:G:A p.(Arg55Lys) NC_000004.12:54695607:G:A Identity +NM_001211.6:c.868C>A NP_001202.5:p.Pro290Thr NC_000015.10:40185280:C:A p.(Pro290Thr) NC_000015.10:40185280:C:A p.(Pro290Thr) NC_000015.10:40185280:C:A Identity +NM_024675.4:c.1553C>A NP_078951.2:p.Ser518Ter NC_000016.10:23634992:G:T p.(Ser518Ter) NC_000016.10:23634992:G:T p.(Ser518Ter) NC_000016.10:23634992:G:T Identity +NM_000445.5:c.3814C>T NP_000436.2:p.Arg1272Trp NC_000008.11:143927432:G:A p.(Arg1272Trp) NC_000008.11:143927432:G:A p.(Arg1272Trp) NC_000008.11:143927432:G:A Identity +NM_001184985.2:c.2665C>G NP_001171914.1:p.Gln889Glu NC_000012.12:868390:C:G p.(Gln889Glu) NC_000012.12:868390:C:G p.(Gln889Glu) NC_000012.12:868390:C:G Identity +NM_001083926.2:c.191G>A NP_001077395.1:p.Gly64Asp NC_000011.10:62356324:G:A p.(Gly64Asp) NC_000011.10:62356324:G:A p.(Gly64Asp) NC_000011.10:62356324:G:A Identity +NM_000257.4:c.4532A>T NP_000248.2:p.Asp1511Val NC_000014.9:23416979:T:A p.(Asp1511Val) NC_000014.9:23416979:T:A p.(Asp1511Val) NC_000014.9:23416979:T:A Identity +NM_138694.4:c.2695A>G NP_619639.3:p.Thr899Ala NC_000006.12:52044985:T:C p.(Thr899Ala) NC_000006.12:52044985:T:C p.(Thr899Ala) NC_000006.12:52044985:T:C Identity +NM_001308133.2:c.3390C>G NP_001295062.1:p.Ser1130Arg NC_000014.9:45176221:C:G p.(Ser1130Arg) NC_000014.9:45176221:C:G p.(Ser1130Arg) NC_000014.9:45176221:C:G Identity +NM_001256850.1:c.99175C>A NP_001243779.1:p.Pro33059Thr NC_000002.12:178532516:G:T p.(Pro33059Thr) NC_000002.12:178532516:G:T p.(Pro33059Thr) NC_000002.12:178532516:G:T Identity +NM_001277115.2:c.8627T>G NP_001264044.1:p.Val2876Gly NC_000007.14:21748695:T:G p.(Val2876Gly) NC_000007.14:21748695:T:G p.(Val2876Gly) NC_000007.14:21748695:T:G Identity +NM_000264.5:c.2346del NP_000255.2:p.Arg783fs NC_000009.12:95467329:A: p.(Arg783GlyfsTer23) NC_000009.12:95467329:A: p.(Arg783GlyfsTer23) NC_000009.12:95467329:A: Analogous +NM_001081640.2:c.4322C>T NP_001075109.1:p.Ala1441Val NC_000008.11:47888608:G:A p.(Ala1441Val) NC_000008.11:47888608:G:A p.(Ala1441Val) NC_000008.11:47888608:G:A Identity +NM_001305242.2:c.245A>G NP_001292171.1:p.Asn82Ser NC_000001.11:95064908:T:C p.(Asn82Ser) NC_000001.11:95064908:T:C p.(Asn82Ser) NC_000001.11:95064908:T:C Identity +NM_001290307.3:c.1852G>A NP_001277236.1:p.Val618Ile NC_000005.10:138925359:G:A p.(Val618Ile) NC_000005.10:138925359:G:A p.(Val618Ile) NC_000005.10:138925359:G:A Identity +NM_000195.5:c.820dup NP_000186.2:p.Trp274fs NC_000010.11:98429837:A:AA p.(Trp274LeufsTer25) NC_000010.11:98429837:A:AA p.(Trp274LeufsTer25) ERR:SPDI Analogous +NM_000444.6:c.457dup NP_000435.3:p.Ala153fs NC_000023.11:22077495:G:GG p.(Ala153GlyfsTer19) NC_000023.11:22077495:G:GG p.(Ala153GlyfsTer19) ERR:SPDI Analogous +NM_001127384.3:c.1628G>A NP_001120856.1:p.Arg543Gln NC_000010.11:66379255:C:T p.(Arg543Gln) NC_000010.11:66379255:C:T p.(Arg543Gln) NC_000010.11:66379255:C:T Identity +NM_020949.3:c.1570G>T NP_066000.2:p.Glu524Ter NC_000003.12:170480711:C:A p.(Glu524Ter) NC_000003.12:170480711:C:A p.(Glu524Ter) NC_000003.12:170480711:C:A Identity +NM_000091.5:c.1407del NP_000082.2:p.Gly470fs NC_000002.12:227266505:AAA:AA p.(Gly470GlufsTer28) NC_000002.12:227266505:AAA:AA p.(Gly470GlufsTer28) NC_000002.12:227266507:A: Analogous +NM_001281303.2:c.131dup NP_001268232.1:p.Tyr44Ter NC_000009.12:92112488:T:TT p.(Tyr44Ter) NC_000009.12:92112488:T:TT p.(Tyr44Ter) ERR:SPDI Identity +NM_001127500.3:c.3844T>C NP_001120972.1:p.Ser1282Pro NC_000007.14:116783460:T:C p.(Ser1282Pro) NC_000007.14:116783460:T:C p.(Ser1282Pro) NC_000007.14:116783460:T:C Identity +NM_001256850.1:c.63755A>G NP_001243779.1:p.His21252Arg NC_000002.12:178577747:T:C p.(His21252Arg) NC_000002.12:178577747:T:C p.(His21252Arg) NC_000002.12:178577747:T:C Identity +NM_000038.6:c.4145_4155del NP_000029.2:p.Leu1382fs NC_000005.10:112839737:CTCATGTTTAGC:C p.(Leu1382GlnfsTer9) NC_000005.10:112839737:CTCATGTTTAGC:C p.(Leu1382GlnfsTer9) NC_000005.10:112839738:TCATGTTTAGC: Analogous +NM_000321.3:c.1412A>G NP_000312.2:p.Gln471Arg NC_000013.11:48380074:A:G p.(Gln471Arg) NC_000013.11:48380074:A:G p.(Gln471Arg) NC_000013.11:48380074:A:G Identity +NM_000744.7:c.602T>G NP_000735.1:p.Leu201Arg NC_000020.11:63350808:A:C p.(Leu201Arg) NC_000020.11:63350808:A:C p.(Leu201Arg) NC_000020.11:63350808:A:C Identity +NM_000245.4:c.3035T>C NP_000236.2:p.Phe1012Ser NC_000007.14:116774886:T:C p.(Phe1012Ser) NC_000007.14:116774886:T:C p.(Phe1012Ser) NC_000007.14:116774886:T:C Identity +NM_002180.3:c.2189G>A NP_002171.2:p.Arg730Gln NC_000011.10:68936668:G:A p.(Arg730Gln) NC_000011.10:68936668:G:A p.(Arg730Gln) NC_000011.10:68936668:G:A Identity +NM_001164617.2:c.1771A>G NP_001158089.1:p.Met591Val NC_000023.11:133536164:T:C p.(Met591Val) NC_000023.11:133536164:T:C p.(Met591Val) NC_000023.11:133536164:T:C Identity +NM_004646.4:c.1235del NP_004637.1:p.Gly412fs NC_000019.10:35848332:CC:C p.(Gly412ValfsTer2) NC_000019.10:35848332:CC:C p.(Gly412ValfsTer2) NC_000019.10:35848332:C: Analogous +NM_001081676.2:c.262A>G NP_001075145.1:p.Lys88Glu NC_000002.12:165176132:T:C p.(Lys88Glu) NC_000002.12:165176132:T:C p.(Lys88Glu) NC_000002.12:165176132:T:C Identity +NM_012327.6:c.2441_2442del NP_036459.1:p.Ser814fs NC_000018.10:62084590:AGAG:AG p.(Ser814CysfsTer33) NC_000018.10:62084590:AGAG:AG p.(Ser814CysfsTer33) NC_000018.10:62084590:AG: Analogous +NM_006269.2:c.3479C>T NP_006260.1:p.Thr1160Ile NC_000008.11:54627360:C:T p.(Thr1160Ile) NC_000008.11:54627360:C:T p.(Thr1160Ile) NC_000008.11:54627360:C:T Identity +NM_001257281.2:c.164C>T NP_001244210.1:p.Ser55Phe NC_000002.12:232015624:C:T p.(Ser55Phe) NC_000002.12:232015624:C:T p.(Ser55Phe) NC_000002.12:232015624:C:T Identity +NM_000362.5:c.113C>G NP_000353.1:p.Ser38Cys NC_000022.11:32802113:C:G p.(Ser38Cys) NC_000022.11:32802113:C:G p.(Ser38Cys) NC_000022.11:32802113:C:G Identity +NM_000152.5:c.1000G>A NP_000143.2:p.Gly334Ser NC_000017.11:80108333:G:A p.(Gly334Ser) NC_000017.11:80108333:G:A p.(Gly334Ser) NC_000017.11:80108333:G:A Identity +NM_000028.3:c.1042G>A NP_000019.2:p.Val348Ile NC_000001.11:99874769:G:A p.(Val348Ile) NC_000001.11:99874769:G:A p.(Val348Ile) NC_000001.11:99874769:G:A Identity +NM_001316690.1:c.124C>T NP_001303619.1:p.Pro42Ser NC_000008.11:60741555:C:T p.(Pro42Ser) NC_000008.11:60741555:C:T p.(Pro42Ser) NC_000008.11:60741555:C:T Identity +NM_002691.4:c.130A>G NP_002682.2:p.Met44Val NC_000019.10:50398980:A:G p.(Met44Val) NC_000019.10:50398980:A:G p.(Met44Val) NC_000019.10:50398980:A:G Identity +NM_001127649.3:c.334G>C NP_001121121.1:p.Val112Leu NC_000022.11:18079976:G:C p.(Val112Leu) NC_000022.11:18079976:G:C p.(Val112Leu) NC_000022.11:18079976:G:C Identity +NM_001164665.2:c.238G>A NP_001158137.1:p.Val80Met NC_000007.14:138919387:C:T p.(Val80Met) NC_000007.14:138919387:C:T p.(Val80Met) NC_000007.14:138919387:C:T Identity +NM_001305275.2:c.4138C>T NP_001292204.1:p.Arg1380Cys NC_000001.11:1048898:C:T p.(Arg1380Cys) NC_000001.11:1048898:C:T p.(Arg1380Cys) NC_000001.11:1048898:C:T Identity +NM_024649.5:c.509A>G NP_078925.3:p.Gln170Arg NC_000011.10:66515721:A:G p.(Gln170Arg) NC_000011.10:66515721:A:G p.(Gln170Arg) NC_000011.10:66515721:A:G Identity +NM_001077182.3:c.1065GAA[2] NP_001070650.1:p.Lys357del NC_000017.11:81536226:GAAGAAGAA:GAAGAA p.(Lys357del) NC_000017.11:81536226:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_000378.6:c.296T>A NP_000369.4:p.Leu99Gln NC_000011.10:32435064:A:T p.(Leu99Gln) NC_000011.10:32435064:A:T p.(Leu99Gln) NC_000011.10:32435064:A:T Identity +NM_001407571.1:c.3473T>A NP_001394500.1:p.Leu1158Ter NC_000017.11:43091844:A:T p.(Leu1158Ter) NC_000017.11:43091844:A:T p.(Leu1158Ter) NC_000017.11:43091844:A:T Identity +NM_001258395.2:c.353A>C NP_001245324.1:p.Glu118Ala NC_000017.11:44902440:A:C p.(Glu118Ala) NC_000017.11:44902440:A:C p.(Glu118Ala) NC_000017.11:44902440:A:C Identity +NM_001277115.2:c.7124G>A NP_001264044.1:p.Ser2375Asn NC_000007.14:21717914:G:A p.(Ser2375Asn) NC_000007.14:21717914:G:A p.(Ser2375Asn) NC_000007.14:21717914:G:A Identity +NM_002439.5:c.3050T>C NP_002430.3:p.Leu1017Pro NC_000005.10:80864861:T:C p.(Leu1017Pro) NC_000005.10:80864861:T:C p.(Leu1017Pro) NC_000005.10:80864861:T:C Identity +NM_001035.3:c.103C>G NP_001026.2:p.Leu35Val NC_000001.11:237270550:C:G p.(Leu35Val) NC_000001.11:237270550:C:G p.(Leu35Val) NC_000001.11:237270550:C:G Identity +NM_001127396.3:c.640C>T NP_001120868.1:p.Pro214Ser NC_000019.10:7642103:C:T p.(Pro214Ser) NC_000019.10:7642103:C:T p.(Pro214Ser) NC_000019.10:7642103:C:T Identity +NM_001122752.2:c.917T>C NP_001116224.1:p.Val306Ala NC_000003.12:167807278:T:C p.(Val306Ala) NC_000003.12:167807278:T:C p.(Val306Ala) NC_000003.12:167807278:T:C Identity +NM_001160227.2:c.2129T>C NP_001153699.1:p.Ile710Thr NC_000015.10:44626445:A:G p.(Ile710Thr) NC_000015.10:44626445:A:G p.(Ile710Thr) NC_000015.10:44626445:A:G Identity +NM_001382361.1:c.731G>A NP_001369290.1:p.Gly244Glu NC_000011.10:64211691:G:A p.(Gly244Glu) NC_000011.10:64211691:G:A p.(Gly244Glu) NC_000011.10:64211691:G:A Identity +NM_004064.5:c.236T>G NP_004055.1:p.Val79Gly NC_000012.12:12718074:T:G p.(Val79Gly) NC_000012.12:12718074:T:G p.(Val79Gly) NC_000012.12:12718074:T:G Identity +NM_001271466.4:c.676A>G NP_001258395.2:p.Thr226Ala NC_000002.12:231235276:A:G p.(Thr226Ala) NC_000002.12:231235276:A:G p.(Thr226Ala) NC_000002.12:231235276:A:G Identity +NM_001318502.2:c.1373G>A NP_001305431.1:p.Arg458His NC_000009.12:136432489:C:T p.(Arg458His) NC_000009.12:136432489:C:T p.(Arg458His) NC_000009.12:136432489:C:T Identity +NM_001282948.2:c.6161A>C NP_001269877.1:p.Lys2054Thr NC_000010.11:63186246:T:G p.(Lys2054Thr) NC_000010.11:63186246:T:G p.(Lys2054Thr) NC_000010.11:63186246:T:G Identity +NM_001317184.2:c.613T>C NP_001304113.1:p.Phe205Leu NC_000016.10:68808773:T:C p.(Phe205Leu) NC_000016.10:68808773:T:C p.(Phe205Leu) NC_000016.10:68808773:T:C Identity +NM_001171930.2:c.3248C>T NP_001165401.1:p.Thr1083Met NC_000010.11:71712691:C:T p.(Thr1083Met) NC_000010.11:71712691:C:T p.(Thr1083Met) NC_000010.11:71712691:C:T Identity +NM_001318193.2:c.5C>T NP_001305122.2:p.Thr2Ile NC_000016.10:2047818:G:A p.(Thr2Ile) NC_000016.10:2047818:G:A p.(Thr2Ile) NC_000016.10:2047818:G:A Identity +NM_001040108.2:c.3781C>T NP_001035197.1:p.Pro1261Ser NC_000014.9:75032113:G:A p.(Pro1261Ser) NC_000014.9:75032113:G:A p.(Pro1261Ser) NC_000014.9:75032113:G:A Identity +NM_001346897.2:c.1154C>A NP_001333826.1:p.Thr385Asn NC_000007.14:55157743:C:A p.(Thr385Asn) NC_000007.14:55157743:C:A p.(Thr385Asn) NC_000007.14:55157743:C:A Identity +NM_004415.4:c.1115T>C NP_004406.2:p.Leu372Pro NC_000006.12:7567423:T:C p.(Leu372Pro) NC_000006.12:7567423:T:C p.(Leu372Pro) NC_000006.12:7567423:T:C Identity +NM_024649.5:c.478C>T NP_078925.3:p.Arg160Trp NC_000011.10:66515584:C:T p.(Arg160Trp) NC_000011.10:66515584:C:T p.(Arg160Trp) NC_000011.10:66515584:C:T Identity +NM_005477.3:c.2470A>G NP_005468.1:p.Arg824Gly NC_000015.10:73323622:T:C p.(Arg824Gly) NC_000015.10:73323622:T:C p.(Arg824Gly) NC_000015.10:73323622:T:C Identity +NM_000059.4:c.517G>A NP_000050.3:p.Gly173Ser NC_000013.11:32326498:G:A p.(Gly173Ser) NC_000013.11:32326498:G:A p.(Gly173Ser) NC_000013.11:32326498:G:A Identity +NM_001844.5:c.3376G>A NP_001835.3:p.Glu1126Lys NC_000012.12:47976870:C:T p.(Glu1126Lys) NC_000012.12:47976870:C:T p.(Glu1126Lys) NC_000012.12:47976870:C:T Identity +NM_001369.3:c.11438G>A NP_001360.1:p.Arg3813Gln NC_000005.10:13737268:C:T p.(Arg3813Gln) NC_000005.10:13737268:C:T p.(Arg3813Gln) NC_000005.10:13737268:C:T Identity +NM_001126105.3:c.1150T>C NP_001119577.1:p.Tyr384His NC_000014.9:22774448:A:G p.(Tyr384His) NC_000014.9:22774448:A:G p.(Tyr384His) NC_000014.9:22774448:A:G Identity +NM_001193306.2:c.713G>A NP_001180235.1:p.Arg238His NC_000019.10:51746281:C:T p.(Arg238His) NC_000019.10:51746281:C:T p.(Arg238His) NC_000019.10:51746281:C:T Identity +NM_014003.4:c.890G>T NP_054722.2:p.Arg297Leu NC_000016.10:72099209:G:T p.(Arg297Leu) NC_000016.10:72099209:G:T p.(Arg297Leu) NC_000016.10:72099209:G:T Identity +NM_000256.3:c.2441A>G NP_000247.2:p.Lys814Arg NC_000011.10:47337551:T:C p.(Lys814Arg) NC_000011.10:47337551:T:C p.(Lys814Arg) NC_000011.10:47337551:T:C Identity +NM_001278590.2:c.920G>A NP_001265519.1:p.Arg307His NC_000004.12:39473193:G:A p.(Arg307His) NC_000004.12:39473193:G:A p.(Arg307His) NC_000004.12:39473193:G:A Identity +NM_000081.4:c.2317G>A NP_000072.2:p.Val773Met NC_000001.11:235808500:C:T p.(Val773Met) NC_000001.11:235808500:C:T p.(Val773Met) NC_000001.11:235808500:C:T Identity +NM_000159.4:c.1045G>A NP_000150.1:p.Ala349Thr NC_000019.10:12897390:G:A p.(Ala349Thr) NC_000019.10:12897390:G:A p.(Ala349Thr) NC_000019.10:12897390:G:A Identity +NM_021798.4:c.1013C>T NP_068570.1:p.Ala338Val NC_000016.10:27448678:C:T p.(Ala338Val) NC_000016.10:27448678:C:T p.(Ala338Val) NC_000016.10:27448678:C:T Identity +NM_000038.6:c.875dup NP_000029.2:p.Leu292fs NC_000005.10:112815531:TTTT:TTTTT p.(Leu292PhefsTer4) NC_000005.10:112815531:TTTT:TTTTT p.(Leu292PhefsTer4) ERR:SPDI Analogous +NM_001369906.1:c.224G>A NP_001356835.1:p.Arg75His NC_000022.11:23575067:C:T p.(Arg75His) NC_000022.11:23575067:C:T p.(Arg75His) NC_000022.11:23575067:C:T Identity +NM_001098268.2:c.689A>T NP_001091738.1:p.Asp230Val NC_000013.11:108210579:T:A p.(Asp230Val) NC_000013.11:108210579:T:A p.(Asp230Val) NC_000013.11:108210579:T:A Identity +NM_012186.3:c.487C>T NP_036318.1:p.Arg163Cys NC_000001.11:47416801:C:T p.(Arg163Cys) NC_000001.11:47416801:C:T p.(Arg163Cys) NC_000001.11:47416801:C:T Identity +NM_001110792.2:c.290G>A NP_001104262.1:p.Arg97His NC_000023.11:154032329:C:T p.(Arg97His) NC_000023.11:154032329:C:T p.(Arg97His) NC_000023.11:154032329:C:T Identity +NM_021798.4:c.1562G>A NP_068570.1:p.Arg521His NC_000016.10:27449227:G:A p.(Arg521His) NC_000016.10:27449227:G:A p.(Arg521His) NC_000016.10:27449227:G:A Identity +NM_001256849.1:c.2414G>C NP_001243778.1:p.Ser805Thr NC_000019.10:50414839:G:C p.(Ser805Thr) NC_000019.10:50414839:G:C p.(Ser805Thr) NC_000019.10:50414839:G:C Identity +NM_001317924.2:c.426C>G NP_001304853.1:p.Asp142Glu NC_000004.12:39214615:C:G p.(Asp142Glu) NC_000004.12:39214615:C:G p.(Asp142Glu) NC_000004.12:39214615:C:G Identity +NM_004260.4:c.2525T>C NP_004251.4:p.Val842Ala NC_000008.11:144513076:A:G p.(Val842Ala) NC_000008.11:144513076:A:G p.(Val842Ala) NC_000008.11:144513076:A:G Identity +NM_001005505.3:c.1051C>T NP_001005505.1:p.Arg351Cys NC_000003.12:50379532:G:A p.(Arg351Cys) NC_000003.12:50379532:G:A p.(Arg351Cys) NC_000003.12:50379532:G:A Identity +NM_014845.6:c.1999T>C NP_055660.1:p.Tyr667His NC_000006.12:109786351:T:C p.(Tyr667His) NC_000006.12:109786351:T:C p.(Tyr667His) NC_000006.12:109786351:T:C Identity +NM_001320412.2:c.61G>A NP_001307341.1:p.Asp21Asn NC_000021.9:46154325:C:T p.(Asp21Asn) NC_000021.9:46154325:C:T p.(Asp21Asn) NC_000021.9:46154325:C:T Identity +NM_001033054.3:c.841G>C NP_001028226.1:p.Ala281Pro NC_000017.11:6425584:C:G p.(Ala281Pro) NC_000017.11:6425584:C:G p.(Ala281Pro) NC_000017.11:6425584:C:G Identity +NM_000166.6:c.491G>T NP_000157.1:p.Arg164Leu NC_000023.11:71224197:G:T p.(Arg164Leu) NC_000023.11:71224197:G:T p.(Arg164Leu) NC_000023.11:71224197:G:T Identity +NM_001605.3:c.1012A>G NP_001596.2:p.Lys338Glu NC_000016.10:70268329:T:C p.(Lys338Glu) NC_000016.10:70268329:T:C p.(Lys338Glu) NC_000016.10:70268329:T:C Identity +NM_001034850.3:c.230T>C NP_001030022.1:p.Leu77Pro NC_000005.10:16616741:A:G p.(Leu77Pro) NC_000005.10:16616741:A:G p.(Leu77Pro) NC_000005.10:16616741:A:G Identity +NM_000548.5:c.3310C>A NP_000539.2:p.Gln1104Lys NC_000016.10:2079581:C:A p.(Gln1104Lys) NC_000016.10:2079581:C:A p.(Gln1104Lys) NC_000016.10:2079581:C:A Identity +NM_000043.6:c.617del NP_000034.1:p.Asn206fs NC_000010.11:89012043:AAAA:AAA p.(Asn206ThrfsTer10) NC_000010.11:89012043:AAAA:AAA p.(Asn206ThrfsTer10) NC_000010.11:89012046:A: Analogous +NM_015102.5:c.1147C>G NP_055917.1:p.Leu383Val NC_000001.11:5933301:G:C p.(Leu383Val) NC_000001.11:5933301:G:C p.(Leu383Val) NC_000001.11:5933301:G:C Identity +NM_000076.2:c.130C>T NP_000067.1:p.Arg44Cys NC_000011.10:2885359:G:A p.(Arg44Cys) NC_000011.10:2885359:G:A p.(Arg44Cys) NC_000011.10:2885359:G:A Identity +NM_000249.4:c.1693A>G NP_000240.1:p.Ile565Val NC_000003.12:37042292:A:G p.(Ile565Val) NC_000003.12:37042292:A:G p.(Ile565Val) NC_000003.12:37042292:A:G Identity +NM_002439.5:c.1310A>G NP_002430.3:p.Glu437Gly NC_000005.10:80679062:A:G p.(Glu437Gly) NC_000005.10:80679062:A:G p.(Glu437Gly) NC_000005.10:80679062:A:G Identity +NM_003000.3:c.35G>A NP_002991.2:p.Arg12Gln NC_000001.11:17053984:C:T p.(Arg12Gln) NC_000001.11:17053984:C:T p.(Arg12Gln) NC_000001.11:17053984:C:T Identity +NM_001256850.1:c.100318G>A NP_001243779.1:p.Glu33440Lys NC_000002.12:178531373:C:T p.(Glu33440Lys) NC_000002.12:178531373:C:T p.(Glu33440Lys) NC_000002.12:178531373:C:T Identity +NM_001316772.1:c.1903C>G NP_001303701.1:p.Arg635Gly NC_000007.14:30632407:C:G p.(Arg635Gly) NC_000007.14:30632407:C:G p.(Arg635Gly) NC_000007.14:30632407:C:G Identity +NM_001166108.2:c.2056C>T NP_001159580.1:p.Arg686Ter NC_000004.12:168891012:C:T p.(Arg686Ter) NC_000004.12:168891012:C:T p.(Arg686Ter) NC_000004.12:168891012:C:T Identity +NM_005732.4:c.3070T>A NP_005723.2:p.Leu1024Ile NC_000005.10:132616035:T:A p.(Leu1024Ile) NC_000005.10:132616035:T:A p.(Leu1024Ile) NC_000005.10:132616035:T:A Identity +NM_001141973.3:c.1090C>G NP_001135445.1:p.His364Asp NC_000001.11:16997109:G:C p.(His364Asp) NC_000001.11:16997109:G:C p.(His364Asp) NC_000001.11:16997109:G:C Identity +NM_000455.5:c.607C>G NP_000446.1:p.Pro203Ala NC_000019.10:1220589:C:G p.(Pro203Ala) NC_000019.10:1220589:C:G p.(Pro203Ala) NC_000019.10:1220589:C:G Identity +NM_001375808.2:c.496A>G NP_001362737.1:p.Ser166Gly NC_000018.10:2951148:T:C p.(Ser166Gly) NC_000018.10:2951148:T:C p.(Ser166Gly) NC_000018.10:2951148:T:C Identity +NM_000059.4:c.372G>A NP_000050.3:p.Met124Ile NC_000013.11:32325130:G:A p.(Met124Ile) NC_000013.11:32325130:G:A p.(Met124Ile) NC_000013.11:32325130:G:A Identity +NM_001134477.3:c.734C>T NP_001127949.1:p.Ala245Val NC_000016.10:14593301:G:A p.(Ala245Val) NC_000016.10:14593301:G:A p.(Ala245Val) NC_000016.10:14593301:G:A Identity +NM_001370233.1:c.292G>A NP_001357162.1:p.Ala98Thr NC_000019.10:19197205:G:A p.(Ala98Thr) NC_000019.10:19197205:G:A p.(Ala98Thr) NC_000019.10:19197205:G:A Identity +NM_001159699.2:c.644_650dup NP_001153171.1:p.Ala218fs NC_000023.11:136208547:CGTTTCAC:CGTTTCACGTTTCAC p.(Ala218PhefsTer34) NC_000023.11:136208547:CGTTTCAC:CGTTTCACGTTTCAC p.(Ala218PhefsTer34) ERR:SPDI Analogous +NM_000088.4:c.1305del NP_000079.2:p.Glu435fs NC_000017.11:50195094:TT:T p.(Glu435AspfsTer106) NC_000017.11:50195094:TT:T p.(Glu435AspfsTer106) NC_000017.11:50195094:T: Analogous +NM_001039885.3:c.125C>G NP_001034974.1:p.Ala42Gly NC_000019.10:46755574:C:G p.(Ala42Gly) NC_000019.10:46755574:C:G p.(Ala42Gly) NC_000019.10:46755574:C:G Identity +NM_002471.4:c.5488G>A NP_002462.2:p.Ala1830Thr NC_000014.9:23384518:C:T p.(Ala1830Thr) NC_000014.9:23384518:C:T p.(Ala1830Thr) NC_000014.9:23384518:C:T Identity +NM_002907.4:c.1876_1877delinsGC NP_002898.2:p.Lys626Ala NC_000012.12:21470266:TT:GC p.(Lys626Ala) NC_000012.12:21470266:TT:GC p.(Lys626Ala) NC_000012.12:21470266:TT:GC Identity +NM_001363729.2:c.1094C>A NP_001350658.1:p.Thr365Asn NC_000020.11:36912520:G:T p.(Thr365Asn) NC_000020.11:36912520:G:T p.(Thr365Asn) NC_000020.11:36912520:G:T Identity +NM_000057.4:c.1214A>G NP_000048.1:p.Asn405Ser NC_000015.10:90760272:A:G p.(Asn405Ser) NC_000015.10:90760272:A:G p.(Asn405Ser) NC_000015.10:90760272:A:G Identity +NM_014000.3:c.2747C>T NP_054706.1:p.Pro916Leu NC_000010.11:74111909:C:T p.(Pro916Leu) NC_000010.11:74111909:C:T p.(Pro916Leu) NC_000010.11:74111909:C:T Identity +NM_173354.5:c.1888G>A NP_775490.2:p.Ala630Thr NC_000021.9:43417630:C:T p.(Ala630Thr) NC_000021.9:43417630:C:T p.(Ala630Thr) NC_000021.9:43417630:C:T Identity +NM_001243766.2:c.36del NP_001230695.2:p.Phe13fs NC_000001.11:46197785:GGG:GG p.(Phe13LeufsTer17) NC_000001.11:46197785:GGG:GG p.(Phe13LeufsTer17) NC_000001.11:46197785:G: Analogous +NM_021147.5:c.208G>A NP_066970.3:p.Gly70Ser NC_000005.10:55233315:C:T p.(Gly70Ser) NC_000005.10:55233315:C:T p.(Gly70Ser) NC_000005.10:55233315:C:T Identity +NM_001352773.2:c.1378C>T NP_001339702.1:p.Arg460Cys NC_000017.11:41763101:G:A p.(Arg460Cys) NC_000017.11:41763101:G:A p.(Arg460Cys) NC_000017.11:41763101:G:A Identity +NM_000138.5:c.465del NP_000129.3:p.Asn156fs NC_000015.10:48596355:G: p.(Asn156MetfsTer34) NC_000015.10:48596355:G: p.(Asn156MetfsTer34) NC_000015.10:48596355:G: Analogous +NM_001134363.3:c.3097G>A NP_001127835.2:p.Glu1033Lys NC_000010.11:110821715:G:A p.(Glu1033Lys) NC_000010.11:110821715:G:A p.(Glu1033Lys) NC_000010.11:110821715:G:A Identity +NM_001849.4:c.1912G>A NP_001840.3:p.Val638Ile NC_000021.9:46125559:G:A p.(Val638Ile) NC_000021.9:46125559:G:A p.(Val638Ile) NC_000021.9:46125559:G:A Identity +NM_173354.5:c.1989A>C NP_775490.2:p.Leu663Phe NC_000021.9:43417104:T:G p.(Leu663Phe) NC_000021.9:43417104:T:G p.(Leu663Phe) NC_000021.9:43417104:T:G Identity +NM_004329.3:c.592G>A NP_004320.2:p.Ala198Thr NC_000010.11:86912300:G:A p.(Ala198Thr) NC_000010.11:86912300:G:A p.(Ala198Thr) NC_000010.11:86912300:G:A Identity +NM_001142275.1:c.703G>A NP_001135747.1:p.Val235Met NC_000015.10:22824176:G:A p.(Val235Met) NC_000015.10:22824176:G:A p.(Val235Met) NC_000015.10:22824176:G:A Identity +NM_000161.3:c.473del NP_000152.1:p.Pro158fs NC_000014.9:54859716:GG:G p.(Pro158LeufsTer15) NC_000014.9:54859716:GG:G p.(Pro158LeufsTer15) NC_000014.9:54859716:G: Analogous +NM_020964.3:c.7156G>T NP_066015.2:p.Glu2386Ter NC_000018.10:45858635:C:A p.(Glu2386Ter) NC_000018.10:45858635:C:A p.(Glu2386Ter) NC_000018.10:45858635:C:A Identity +NM_001572.5:c.1406G>A NP_001563.2:p.Gly469Asp NC_000011.10:612750:C:T p.(Gly469Asp) NC_000011.10:612750:C:T p.(Gly469Asp) NC_000011.10:612750:C:T Identity +NM_001136029.4:c.3704C>G NP_001129501.1:p.Ser1235Cys NC_000022.11:31876190:C:G p.(Ser1235Cys) NC_000022.11:31876190:C:G p.(Ser1235Cys) NC_000022.11:31876190:C:G Identity +NM_001040108.2:c.1436C>T NP_001035197.1:p.Ser479Leu NC_000014.9:75048219:G:A p.(Ser479Leu) NC_000014.9:75048219:G:A p.(Ser479Leu) NC_000014.9:75048219:G:A Identity +NM_001127207.2:c.1031A>G NP_001120679.1:p.Glu344Gly NC_000002.12:216420466:A:G p.(Glu344Gly) NC_000002.12:216420466:A:G p.(Glu344Gly) NC_000002.12:216420466:A:G Identity +NM_001034850.3:c.595C>G NP_001030022.1:p.Leu199Val NC_000005.10:16481083:G:C p.(Leu199Val) NC_000005.10:16481083:G:C p.(Leu199Val) NC_000005.10:16481083:G:C Identity +NM_001256849.1:c.1A>G NP_001243778.1:p.Met1Val NC_000019.10:50398851:A:G p.(Met1Val) NC_000019.10:50398851:A:G p.Met1? NC_000019.10:50398851:A:G Identity +NM_020964.3:c.5648C>T NP_066015.2:p.Ala1883Val NC_000018.10:45880093:G:A p.(Ala1883Val) NC_000018.10:45880093:G:A p.(Ala1883Val) NC_000018.10:45880093:G:A Identity +NM_005562.3:c.2244C>G NP_005553.2:p.Tyr748Ter NC_000001.11:183234389:C:G p.(Tyr748Ter) NC_000001.11:183234389:C:G p.(Tyr748Ter) NC_000001.11:183234389:C:G Identity +NM_020461.4:c.4952C>T NP_065194.3:p.Thr1651Ile NC_000022.11:50218489:G:A p.(Thr1651Ile) NC_000022.11:50218489:G:A p.(Thr1651Ile) NC_000022.11:50218489:G:A Identity +NM_000151.4:c.626A>G NP_000142.2:p.Tyr209Cys NC_000017.11:42910977:A:G p.(Tyr209Cys) NC_000017.11:42910977:A:G p.(Tyr209Cys) NC_000017.11:42910977:A:G Identity +LRG_1389t1:c.5348A>T LRG_1389p1:p.Asp1783Val NC_000012.12:51806833:A:T ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found +NM_001316327.2:c.1957G>A NP_001303256.1:p.Asp653Asn NC_000003.12:53192191:G:A p.(Asp653Asn) NC_000003.12:53192191:G:A p.(Asp653Asn) NC_000003.12:53192191:G:A Identity +NM_001042663.3:c.890_891del NP_001036128.2:p.Thr297fs NC_000001.11:6473265:GG: p.(Thr297LysfsTer37) NC_000001.11:6473265:GG: p.(Thr297LysfsTer37) NC_000001.11:6473265:GG: Analogous +NM_001040875.4:c.835A>G NP_001035808.1:p.Met279Val NC_000008.11:74364328:A:G p.(Met279Val) NC_000008.11:74364328:A:G p.(Met279Val) NC_000008.11:74364328:A:G Identity +NM_152393.4:c.1439T>C NP_689606.2:p.Met480Thr NC_000003.12:42688885:T:C p.(Met480Thr) NC_000003.12:42688885:T:C p.(Met480Thr) NC_000003.12:42688885:T:C Identity +NM_001256850.1:c.82453_82460dup NP_001243779.1:p.Phe27488fs NC_000002.12:178557970:GCTTTGGT:GCTTTGGTGCTTTGGT p.(Phe27488ProfsTer10) NC_000002.12:178557970:GCTTTGGT:GCTTTGGTGCTTTGGT p.(Phe27488ProfsTer10) ERR:SPDI Analogous +NM_001042399.2:c.2098G>A NP_001035858.1:p.Gly700Arg NC_000012.12:94308820:C:T p.(Gly700Arg) NC_000012.12:94308820:C:T p.(Gly700Arg) NC_000012.12:94308820:C:T Identity +NM_001204269.2:c.782T>C NP_001191198.1:p.Val261Ala NC_000001.11:110604000:A:G p.(Val261Ala) NC_000001.11:110604000:A:G p.(Val261Ala) NC_000001.11:110604000:A:G Identity +NM_001257374.3:c.35A>G NP_001244303.1:p.Glu12Gly NC_000001.11:156130630:A:G p.(Glu12Gly) NC_000001.11:156130630:A:G p.(Glu12Gly) NC_000001.11:156130630:A:G Identity +NM_001318193.2:c.379A>T NP_001305122.2:p.Thr127Ser NC_000016.10:2043701:T:A p.(Thr127Ser) NC_000016.10:2043701:T:A p.(Thr127Ser) NC_000016.10:2043701:T:A Identity +NM_005732.4:c.1871G>A NP_005723.2:p.Ser624Asn NC_000005.10:132594945:G:A p.(Ser624Asn) NC_000005.10:132594945:G:A p.(Ser624Asn) NC_000005.10:132594945:G:A Identity +NM_001062.4:c.1177T>C NP_001053.2:p.Cys393Arg NC_000011.10:59853265:A:G p.(Cys393Arg) NC_000011.10:59853265:A:G p.(Cys393Arg) NC_000011.10:59853265:A:G Identity +NM_006950.3:c.169G>A NP_008881.2:p.Val57Ile NC_000023.11:47619559:C:T p.(Val57Ile) NC_000023.11:47619559:C:T p.(Val57Ile) NC_000023.11:47619559:C:T Identity +NM_001278727.2:c.688A>G NP_001265656.1:p.Ser230Gly NC_000019.10:19201689:A:G p.(Ser230Gly) NC_000019.10:19201689:A:G p.(Ser230Gly) NC_000019.10:19201689:A:G Identity +NM_001365536.1:c.5763C>G NP_001352465.1:p.Asp1921Glu NC_000002.12:166198875:G:C p.(Asp1921Glu) NC_000002.12:166198875:G:C p.(Asp1921Glu) NC_000002.12:166198875:G:C Identity +NM_001365999.1:c.5494G>A NP_001352928.1:p.Val1832Ile NC_000001.11:43432567:G:A p.(Val1832Ile) NC_000001.11:43432567:G:A p.(Val1832Ile) NC_000001.11:43432567:G:A Identity +NM_033071.5:c.1265G>A NP_149062.2:p.Gly422Asp NC_000006.12:152483190:C:T p.(Gly422Asp) NC_000006.12:152483190:C:T p.(Gly422Asp) NC_000006.12:152483190:C:T Identity +NM_006343.3:c.2159T>C NP_006334.2:p.Leu720Pro NC_000002.12:112019491:T:C p.(Leu720Pro) NC_000002.12:112019491:T:C p.(Leu720Pro) NC_000002.12:112019491:T:C Identity +NM_000540.3:c.1955C>T NP_000531.2:p.Ala652Val NC_000019.10:38458079:C:T p.(Ala652Val) NC_000019.10:38458079:C:T p.(Ala652Val) NC_000019.10:38458079:C:T Identity +NM_000018.4:c.1881G>C NP_000009.1:p.Gln627His NC_000017.11:7225009:G:C p.(Gln627His) NC_000017.11:7225009:G:C p.(Gln627His) NC_000017.11:7225009:G:C Identity +NM_000214.3:c.2172_2173dup NP_000205.1:p.Asp725fs NC_000020.11:10645196:CCCCC:CCCCCCC p.(Asp725GlyfsTer19) NC_000020.11:10645196:CCCCC:CCCCCCC p.(Asp725GlyfsTer19) ERR:SPDI Analogous +NM_001098802.3:c.614T>C NP_001092272.1:p.Met205Thr NC_000009.12:78243471:T:C p.(Met205Thr) NC_000009.12:78243471:T:C p.(Met205Thr) NC_000009.12:78243471:T:C Identity +NM_001304481.2:c.1961A>G NP_001291410.1:p.Lys654Arg NC_000012.12:32625723:A:G p.(Lys654Arg) NC_000012.12:32625723:A:G p.(Lys654Arg) NC_000012.12:32625723:A:G Identity +NM_001291593.2:c.40G>A NP_001278522.1:p.Gly14Ser NC_000001.11:5927683:C:T p.(Gly14Ser) NC_000001.11:5927683:C:T p.(Gly14Ser) NC_000001.11:5927683:C:T Identity +NM_004369.4:c.4405G>A NP_004360.2:p.Gly1469Ser NC_000002.12:237369057:C:T p.(Gly1469Ser) NC_000002.12:237369057:C:T p.(Gly1469Ser) NC_000002.12:237369057:C:T Identity +NM_001165963.4:c.788T>C NP_001159435.1:p.Leu263Pro NC_000002.12:166051894:A:G p.(Leu263Pro) NC_000002.12:166051894:A:G p.(Leu263Pro) NC_000002.12:166051894:A:G Identity +NM_000744.7:c.220A>C NP_000735.1:p.Ile74Leu NC_000020.11:63359555:T:G p.(Ile74Leu) NC_000020.11:63359555:T:G p.(Ile74Leu) NC_000020.11:63359555:T:G Identity +NM_000553.6:c.3749A>G NP_000544.2:p.Asn1250Ser NC_000008.11:31154684:A:G p.(Asn1250Ser) NC_000008.11:31154684:A:G p.(Asn1250Ser) NC_000008.11:31154684:A:G Identity +NM_000816.3:c.1115A>G NP_000807.2:p.Lys372Arg NC_000005.10:162149299:A:G p.(Lys372Arg) NC_000005.10:162149299:A:G p.(Lys372Arg) NC_000005.10:162149299:A:G Identity +NM_001184985.2:c.2316C>G NP_001171914.1:p.His772Gln NC_000012.12:868041:C:G p.(His772Gln) NC_000012.12:868041:C:G p.(His772Gln) NC_000012.12:868041:C:G Identity +NM_001326358.2:c.1909C>A NP_001313287.1:p.Pro637Thr NC_000016.10:77319955:G:T p.(Pro637Thr) NC_000016.10:77319955:G:T p.(Pro637Thr) NC_000016.10:77319955:G:T Identity +NM_001079.4:c.1094A>G NP_001070.2:p.Asp365Gly NC_000002.12:97735260:A:G p.(Asp365Gly) NC_000002.12:97735260:A:G p.(Asp365Gly) NC_000002.12:97735260:A:G Identity +NM_005732.4:c.561A>T NP_005723.2:p.Lys187Asn NC_000005.10:132579870:A:T p.(Lys187Asn) NC_000005.10:132579870:A:T p.(Lys187Asn) NC_000005.10:132579870:A:T Identity +NM_014714.4:c.2303G>A NP_055529.2:p.Cys768Tyr NC_000016.10:1558030:C:T p.(Cys768Tyr) NC_000016.10:1558030:C:T p.(Cys768Tyr) NC_000016.10:1558030:C:T Identity +NM_001134477.3:c.988A>G NP_001127949.1:p.Ile330Val NC_000016.10:14582201:T:C p.(Ile330Val) NC_000016.10:14582201:T:C p.(Ile330Val) NC_000016.10:14582201:T:C Identity +NM_000687.4:c.985C>T NP_000678.1:p.Arg329Trp NC_000020.11:34285621:G:A p.(Arg329Trp) NC_000020.11:34285621:G:A p.(Arg329Trp) NC_000020.11:34285621:G:A Identity +NM_001303256.3:c.2203A>G NP_001290185.1:p.Ser735Gly NC_000022.11:30934181:T:C p.(Ser735Gly) NC_000022.11:30934181:T:C p.(Ser735Gly) NC_000022.11:30934181:T:C Identity +NM_001184985.2:c.5144C>A NP_001171914.1:p.Ala1715Glu NC_000012.12:885167:C:A p.(Ala1715Glu) NC_000012.12:885167:C:A p.(Ala1715Glu) NC_000012.12:885167:C:A Identity +NM_001365999.1:c.7642A>G NP_001352928.1:p.Met2548Val NC_000001.11:43441717:A:G p.(Met2548Val) NC_000001.11:43441717:A:G p.(Met2548Val) NC_000001.11:43441717:A:G Identity +LRG_1228t1:c.392G>A LRG_1228p1:p.Arg131His NC_000003.12:9893216:G:A ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found ERR:AlignmentMapper(tx_ac=LRG_1228t1, alt_ac=LRG_1228t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1228t1, alt_ac=LRG_1228t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1228t1 not found +NM_006231.4:c.104T>A NP_006222.2:p.Leu35Gln NC_000012.12:132681237:A:T p.(Leu35Gln) NC_000012.12:132681237:A:T p.(Leu35Gln) NC_000012.12:132681237:A:T Identity +NM_005732.4:c.1311_1312del NP_005723.2:p.Gly438fs NC_000005.10:132589695:TG: p.(Gly438ThrfsTer6) NC_000005.10:132589695:TG: p.(Gly438ThrfsTer6) NC_000005.10:132589695:TG: Analogous +NM_000286.3:c.31del NP_000277.1:p.Ala11fs NC_000017.11:35577990:C: p.(Ala11LeufsTer14) NC_000017.11:35577990:C: p.(Ala11LeufsTer14) NC_000017.11:35577990:C: Analogous +NM_000051.4:c.4336G>A NP_000042.3:p.Val1446Ile NC_000011.10:108289700:G:A p.(Val1446Ile) NC_000011.10:108289700:G:A p.(Val1446Ile) NC_000011.10:108289700:G:A Identity +NM_001271999.2:c.5750G>T NP_001258928.1:p.Arg1917Ile NC_000001.11:62475884:C:A p.(Arg1917Ile) NC_000001.11:62475884:C:A p.(Arg1917Ile) NC_000001.11:62475884:C:A Identity +NM_001136037.4:c.735_738del NP_001129509.2:p.Cys246fs NC_000002.12:127640976:ACAGACA:ACA p.(Cys246ProfsTer39) NC_000002.12:127640976:ACAGACA:ACA p.(Cys246ProfsTer39) NC_000002.12:127640976:ACAG: Analogous +NM_001036.6:c.13802T>C NP_001027.3:p.Leu4601Pro NC_000015.10:33854390:T:C p.(Leu4601Pro) NC_000015.10:33854390:T:C p.(Leu4601Pro) NC_000015.10:33854390:T:C Identity +NM_005506.4:c.638A>C NP_005497.1:p.Tyr213Ser NC_000004.12:76176502:T:G p.(Tyr213Ser) NC_000004.12:76176502:T:G p.(Tyr213Ser) NC_000004.12:76176502:T:G Identity +NM_001256053.2:c.1866del NP_001242982.1:p.Thr623fs NC_000010.11:27046468:CC:C p.(Thr623ProfsTer6) NC_000010.11:27046468:CC:C p.(Thr623ProfsTer6) NC_000010.11:27046468:C: Analogous +NM_006267.5:c.5180A>G NP_006258.3:p.Gln1727Arg NC_000002.12:108765718:A:G p.(Gln1727Arg) NC_000002.12:108765718:A:G p.(Gln1727Arg) NC_000002.12:108765718:A:G Identity +NM_001033855.3:c.1445C>A NP_001029027.1:p.Ala482Asp NC_000010.11:14909041:G:T p.(Ala482Asp) NC_000010.11:14909041:G:T p.(Ala482Asp) NC_000010.11:14909041:G:T Identity +NM_001160227.2:c.1103A>G NP_001153699.1:p.His368Arg NC_000015.10:44651843:T:C p.(His368Arg) NC_000015.10:44651843:T:C p.(His368Arg) NC_000015.10:44651843:T:C Identity +NM_006231.4:c.1321C>T NP_006222.2:p.Pro441Ser NC_000012.12:132673612:G:A p.(Pro441Ser) NC_000012.12:132673612:G:A p.(Pro441Ser) NC_000012.12:132673612:G:A Identity +NM_000416.3:c.92C>G NP_000407.1:p.Thr31Arg NC_000006.12:137207070:G:C p.(Thr31Arg) NC_000006.12:137207070:G:C p.(Thr31Arg) NC_000006.12:137207070:G:C Identity +NM_001271769.2:c.689A>T NP_001258698.1:p.Asp230Val NC_000005.10:78181612:T:A p.(Asp230Val) NC_000005.10:78181612:T:A p.(Asp230Val) NC_000005.10:78181612:T:A Identity +NM_001128844.3:c.2418C>A NP_001122316.1:p.Phe806Leu NC_000019.10:11013091:C:A p.(Phe806Leu) NC_000019.10:11013091:C:A p.(Phe806Leu) NC_000019.10:11013091:C:A Identity +NM_000540.3:c.9413C>T NP_000531.2:p.Pro3138Leu NC_000019.10:38512423:C:T p.(Pro3138Leu) NC_000019.10:38512423:C:T p.(Pro3138Leu) NC_000019.10:38512423:C:T Identity +NM_002838.5:c.3189A>T NP_002829.3:p.Glu1063Asp NC_000001.11:198750607:A:T p.(Glu1063Asp) NC_000001.11:198750607:A:T p.(Glu1063Asp) NC_000001.11:198750607:A:T Identity +NM_001365999.1:c.5197C>T NP_001352928.1:p.Arg1733Cys NC_000001.11:43431823:C:T p.(Arg1733Cys) NC_000001.11:43431823:C:T p.(Arg1733Cys) NC_000001.11:43431823:C:T Identity +NM_001256442.2:c.865G>A NP_001243371.1:p.Ala289Thr NC_000016.10:29813918:G:A p.(Ala289Thr) NC_000016.10:29813918:G:A p.(Ala289Thr) NC_000016.10:29813918:G:A Identity +NM_006343.3:c.2053T>C NP_006334.2:p.Tyr685His NC_000002.12:112010039:T:C p.(Tyr685His) NC_000002.12:112010039:T:C p.(Tyr685His) NC_000002.12:112010039:T:C Identity +NM_024589.3:c.523G>A NP_078865.1:p.Gly175Ser NC_000016.10:4798576:C:T p.(Gly175Ser) NC_000016.10:4798576:C:T p.(Gly175Ser) NC_000016.10:4798576:C:T Identity +NM_001305275.2:c.6058C>T NP_001292204.1:p.Pro2020Ser NC_000001.11:1054831:C:T p.(Pro2020Ser) NC_000001.11:1054831:C:T p.(Pro2020Ser) NC_000001.11:1054831:C:T Identity +NM_000122.2:c.32A>T NP_000113.1:p.Lys11Met NC_000002.12:127293714:T:A p.(Lys11Met) NC_000002.12:127293714:T:A p.(Lys11Met) NC_000002.12:127293714:T:A Identity +NM_001290307.3:c.676C>G NP_001277236.1:p.Gln226Glu NC_000005.10:138824616:C:G p.(Gln226Glu) NC_000005.10:138824616:C:G p.(Gln226Glu) NC_000005.10:138824616:C:G Identity +NM_000038.6:c.5293T>G NP_000029.2:p.Leu1765Val NC_000005.10:112840886:T:G p.(Leu1765Val) NC_000005.10:112840886:T:G p.(Leu1765Val) NC_000005.10:112840886:T:G Identity +NM_001190918.2:c.641C>G NP_001177847.1:p.Ala214Gly NC_000017.11:40086770:C:G p.(Ala214Gly) NC_000017.11:40086770:C:G p.(Ala214Gly) NC_000017.11:40086770:C:G Identity +NM_001127207.2:c.2389G>A NP_001120679.1:p.Asp797Asn NC_000002.12:216475412:G:A p.(Asp797Asn) NC_000002.12:216475412:G:A p.(Asp797Asn) NC_000002.12:216475412:G:A Identity +NM_001005360.3:c.376T>G NP_001005360.1:p.Ser126Ala NC_000019.10:10772618:T:G p.(Ser126Ala) NC_000019.10:10772618:T:G p.(Ser126Ala) NC_000019.10:10772618:T:G Identity +NM_000138.5:c.962C>T NP_000129.3:p.Thr321Ile NC_000015.10:48526155:G:A p.(Thr321Ile) NC_000015.10:48526155:G:A p.(Thr321Ile) NC_000015.10:48526155:G:A Identity +NM_001305275.2:c.5152C>A NP_001292204.1:p.Pro1718Thr NC_000001.11:1050735:C:A p.(Pro1718Thr) NC_000001.11:1050735:C:A p.(Pro1718Thr) NC_000001.11:1050735:C:A Identity +NM_000553.6:c.1070A>G NP_000544.2:p.His357Arg NC_000008.11:31081096:A:G p.(His357Arg) NC_000008.11:31081096:A:G p.(His357Arg) NC_000008.11:31081096:A:G Identity +NM_000492.4:c.1981A>G NP_000483.3:p.Ile661Val NC_000007.14:117592147:A:G p.(Ile661Val) NC_000007.14:117592147:A:G p.(Ile661Val) NC_000007.14:117592147:A:G Identity +NM_001318360.2:c.251T>C NP_001305289.1:p.Val84Ala NC_000009.12:108919308:A:G p.(Val84Ala) NC_000009.12:108919308:A:G p.(Val84Ala) NC_000009.12:108919308:A:G Identity +NM_206933.4:c.5980G>A NP_996816.3:p.Glu1994Lys NC_000001.11:216070169:C:T p.(Glu1994Lys) NC_000001.11:216070169:C:T p.(Glu1994Lys) NC_000001.11:216070169:C:T Identity +NM_001257158.2:c.821A>G NP_001244087.1:p.Gln274Arg NC_000007.14:130398975:T:C p.(Gln274Arg) NC_000007.14:130398975:T:C p.(Gln274Arg) NC_000007.14:130398975:T:C Identity +NM_001127487.2:c.2782T>A NP_001120959.1:p.Tyr928Asn NC_000007.14:128843547:T:A p.(Tyr928Asn) NC_000007.14:128843547:T:A p.(Tyr928Asn) NC_000007.14:128843547:T:A Identity +NM_000059.4:c.7336A>G NP_000050.3:p.Lys2446Glu NC_000013.11:32355188:A:G p.(Lys2446Glu) NC_000013.11:32355188:A:G p.(Lys2446Glu) NC_000013.11:32355188:A:G Identity +NM_001040875.4:c.668A>G NP_001035808.1:p.Lys223Arg NC_000008.11:74364161:A:G p.(Lys223Arg) NC_000008.11:74364161:A:G p.(Lys223Arg) NC_000008.11:74364161:A:G Identity +NM_001318193.2:c.608A>T NP_001305122.2:p.Glu203Val NC_000016.10:2040144:T:A p.(Glu203Val) NC_000016.10:2040144:T:A p.(Glu203Val) NC_000016.10:2040144:T:A Identity +NM_001367671.1:c.29C>T NP_001354600.1:p.Thr10Met NC_000007.14:838898:C:T p.(Thr10Met) NC_000007.14:838898:C:T p.(Thr10Met) NC_000007.14:838898:C:T Identity +NM_001363260.1:c.17A>G NP_001350189.1:p.Asp6Gly NC_000008.11:95269172:T:C p.(Asp6Gly) NC_000008.11:95269172:T:C p.(Asp6Gly) NC_000008.11:95269172:T:C Identity +NM_002838.5:c.2078G>A NP_002829.3:p.Arg693His NC_000001.11:198732491:G:A p.(Arg693His) NC_000001.11:198732491:G:A p.(Arg693His) NC_000001.11:198732491:G:A Identity +NM_000350.3:c.2020A>G NP_000341.2:p.Ile674Val NC_000001.11:94060676:T:C p.(Ile674Val) NC_000001.11:94060676:T:C p.(Ile674Val) NC_000001.11:94060676:T:C Identity +NM_000384.3:c.2407G>A NP_000375.3:p.Ala803Thr NC_000002.12:21024961:C:T p.(Ala803Thr) NC_000002.12:21024961:C:T p.(Ala803Thr) NC_000002.12:21024961:C:T Identity +NM_000368.5:c.1244C>T NP_000359.1:p.Thr415Ile NC_000009.12:132910589:G:A p.(Thr415Ile) NC_000009.12:132910589:G:A p.(Thr415Ile) NC_000009.12:132910589:G:A Identity +NM_001318832.2:c.497_499del NP_001305761.1:p.Tyr166del NC_000016.10:2054420:CTACT:CT p.(Tyr166del) NC_000016.10:2054420:CTACT:CT p.(Tyr166del) NC_000016.10:2054422:ACT: Identity +NM_001127897.4:c.3318_3319dup NP_001121369.1:p.Pro1107fs NC_000016.10:53619081:GTGT:GTGTGT p.(Pro1107HisfsTer21) NC_000016.10:53619081:GTGT:GTGTGT p.(Pro1107HisfsTer21) ERR:SPDI Analogous +NM_000411.8:c.2126C>T NP_000402.3:p.Pro709Leu NC_000021.9:36754300:G:A p.(Pro709Leu) NC_000021.9:36754300:G:A p.(Pro709Leu) NC_000021.9:36754300:G:A Identity +NM_206933.4:c.10478G>T NP_996816.3:p.Arg3493Ile NC_000001.11:215782844:C:A p.(Arg3493Ile) NC_000001.11:215782844:C:A p.(Arg3493Ile) NC_000001.11:215782844:C:A Identity +NM_014003.4:c.3550C>T NP_054722.2:p.Arg1184Ter NC_000016.10:72111027:C:T p.(Arg1184Ter) NC_000016.10:72111027:C:T p.(Arg1184Ter) NC_000016.10:72111027:C:T Identity +NM_001289905.2:c.2307G>C NP_001276834.1:p.Gln769His NC_000022.11:17109627:G:C p.(Gln769His) NC_000022.11:17109627:G:C p.(Gln769His) NC_000022.11:17109627:G:C Identity +NM_001165962.2:c.1904G>A NP_001159434.1:p.Arg635Gln NC_000017.11:12994768:C:T p.(Arg635Gln) NC_000017.11:12994768:C:T p.(Arg635Gln) NC_000017.11:12994768:C:T Identity +NM_000038.6:c.3466G>T NP_000029.2:p.Glu1156Ter NC_000005.10:112839059:G:T p.(Glu1156Ter) NC_000005.10:112839059:G:T p.(Glu1156Ter) NC_000005.10:112839059:G:T Identity +NM_016616.5:c.468T>A NP_057700.3:p.Ser156Arg NC_000007.14:37864360:T:A p.(Ser156Arg) NC_000007.14:37864360:T:A p.(Ser156Arg) NC_000007.14:37864360:T:A Identity +NM_000179.3:c.1771C>G NP_000170.1:p.Pro591Ala NC_000002.12:47799753:C:G p.(Pro591Ala) NC_000002.12:47799753:C:G p.(Pro591Ala) NC_000002.12:47799753:C:G Identity +NM_006036.4:c.805A>G NP_006027.2:p.Ile269Val NC_000002.12:44339310:T:C p.(Ile269Val) NC_000002.12:44339310:T:C p.(Ile269Val) NC_000002.12:44339310:T:C Identity +NM_001330540.2:c.446G>A NP_001317469.1:p.Arg149Gln NC_000001.11:45508982:G:A p.(Arg149Gln) NC_000001.11:45508982:G:A p.(Arg149Gln) NC_000001.11:45508982:G:A Identity +NM_012327.6:c.2528T>C NP_036459.1:p.Met843Thr NC_000018.10:62082720:A:G p.(Met843Thr) NC_000018.10:62082720:A:G p.(Met843Thr) NC_000018.10:62082720:A:G Identity +NM_001134363.3:c.418C>A NP_001127835.2:p.Pro140Thr NC_000010.11:110781026:C:A p.(Pro140Thr) NC_000010.11:110781026:C:A p.(Pro140Thr) NC_000010.11:110781026:C:A Identity +NM_001267727.2:c.701dup NP_001254656.1:p.Ser235fs NC_000017.11:68356800:C:CC p.(Ser235LysfsTer54) NC_000017.11:68356800:C:CC p.(Ser235LysfsTer54) ERR:SPDI Analogous +NM_001164313.2:c.855G>T NP_001157785.1:p.Arg285Ser NC_000006.12:109481171:C:A p.(Arg285Ser) NC_000006.12:109481171:C:A p.(Arg285Ser) NC_000006.12:109481171:C:A Identity +NM_001040108.2:c.2929T>G NP_001035197.1:p.Ser977Ala NC_000014.9:75046726:A:C p.(Ser977Ala) NC_000014.9:75046726:A:C p.(Ser977Ala) NC_000014.9:75046726:A:C Identity +NM_001166111.2:c.1495C>T NP_001159583.1:p.Arg499Cys NC_000019.10:7542865:C:T p.(Arg499Cys) NC_000019.10:7542865:C:T p.(Arg499Cys) NC_000019.10:7542865:C:T Identity +NM_000203.5:c.649C>T NP_000194.2:p.Arg217Trp NC_000004.12:1001737:C:T p.(Arg217Trp) NC_000004.12:1001737:C:T p.(Arg217Trp) NC_000004.12:1001737:C:T Identity +NM_000512.5:c.1192del NP_000503.1:p.His398fs NC_000016.10:88824816:G: p.(His398ThrfsTer43) NC_000016.10:88824816:G: p.(His398ThrfsTer43) NC_000016.10:88824816:G: Analogous +NM_001377295.2:c.341T>C NP_001364224.1:p.Ile114Thr NC_000001.11:109608750:A:G p.(Ile114Thr) NC_000001.11:109608750:A:G p.(Ile114Thr) NC_000001.11:109608750:A:G Identity +NM_001184985.2:c.3092C>A NP_001171914.1:p.Thr1031Asn NC_000012.12:868817:C:A p.(Thr1031Asn) NC_000012.12:868817:C:A p.(Thr1031Asn) NC_000012.12:868817:C:A Identity +NM_032119.4:c.6844A>G NP_115495.3:p.Thr2282Ala NC_000005.10:90690933:A:G p.(Thr2282Ala) NC_000005.10:90690933:A:G p.(Thr2282Ala) NC_000005.10:90690933:A:G Identity +NM_000264.5:c.2148dup NP_000255.2:p.Asp717fs NC_000009.12:95468852:GG:GGG p.(Asp717ArgfsTer21) NC_000009.12:95468852:GG:GGG p.(Asp717ArgfsTer21) ERR:SPDI Analogous +NM_000076.2:c.541G>A NP_000067.1:p.Ala181Thr NC_000011.10:2884948:C:T p.(Ala181Thr) NC_000011.10:2884948:C:T p.(Ala181Thr) NC_000011.10:2884948:C:T Identity +NM_000016.6:c.333_345del NP_000007.1:p.Glu111fs NC_000001.11:75733571:GAATTGGCTTATGGA:GA p.(Glu111AspfsTer35) NC_000001.11:75733571:GAATTGGCTTATGGA:GA p.(Glu111AspfsTer35) NC_000001.11:75733573:ATTGGCTTATGGA: Analogous +NM_001211.6:c.1247G>T NP_001202.5:p.Arg416Leu NC_000015.10:40196732:G:T p.(Arg416Leu) NC_000015.10:40196732:G:T p.(Arg416Leu) NC_000015.10:40196732:G:T Identity +NM_152383.5:c.1903A>G NP_689596.4:p.Ser635Gly NC_000002.12:232329975:A:G p.(Ser635Gly) NC_000002.12:232329975:A:G p.(Ser635Gly) NC_000002.12:232329975:A:G Identity +NM_000268.4:c.85A>G NP_000259.1:p.Met29Val NC_000022.11:29604082:A:G p.(Met29Val) NC_000022.11:29604082:A:G p.(Met29Val) NC_000022.11:29604082:A:G Identity +NM_000362.5:c.517G>A NP_000353.1:p.Gly173Ser NC_000022.11:32859257:G:A p.(Gly173Ser) NC_000022.11:32859257:G:A p.(Gly173Ser) NC_000022.11:32859257:G:A Identity +NM_001346083.2:c.731G>A NP_001333012.1:p.Arg244Gln NC_000001.11:205059615:G:A p.(Arg244Gln) NC_000001.11:205059615:G:A p.(Arg244Gln) NC_000001.11:205059615:G:A Identity +NM_006231.4:c.1314G>C NP_006222.2:p.Glu438Asp NC_000012.12:132673619:C:G p.(Glu438Asp) NC_000012.12:132673619:C:G p.(Glu438Asp) NC_000012.12:132673619:C:G Identity +NM_001195573.1:c.3113G>T NP_001182502.1:p.Cys1038Phe NC_000014.9:95105226:C:A p.(Cys1038Phe) NC_000014.9:95105226:C:A p.(Cys1038Phe) NC_000014.9:95105226:C:A Identity +NM_032119.4:c.5156C>T NP_115495.3:p.Ala1719Val NC_000005.10:90675287:C:T p.(Ala1719Val) NC_000005.10:90675287:C:T p.(Ala1719Val) NC_000005.10:90675287:C:T Identity +NM_001329556.3:c.340G>A NP_001316485.1:p.Val114Met NC_000019.10:1495598:G:A p.(Val114Met) NC_000019.10:1495598:G:A p.(Val114Met) NC_000019.10:1495598:G:A Identity +NM_001018038.3:c.3157C>T NP_001018048.1:p.Gln1053Ter NC_000009.12:77283392:C:T p.(Gln1053Ter) NC_000009.12:77283392:C:T p.(Gln1053Ter) NC_000009.12:77283392:C:T Identity +NM_001081955.3:c.709A>T NP_001075424.1:p.Thr237Ser NC_000017.11:65190207:A:T p.(Thr237Ser) NC_000017.11:65190207:A:T p.(Thr237Ser) NC_000017.11:65190207:A:T Identity +NM_001378454.1:c.5172G>C NP_001365383.1:p.Gln1724His NC_000002.12:73451698:G:C p.(Gln1724His) NC_000002.12:73451698:G:C p.(Gln1724His) NC_000002.12:73451698:G:C Identity +NM_015662.3:c.1523G>A NP_056477.1:p.Arg508His NC_000002.12:27472250:C:T p.(Arg508His) NC_000002.12:27472250:C:T p.(Arg508His) NC_000002.12:27472250:C:T Identity +NM_005188.4:c.2485C>T NP_005179.2:p.Arg829Trp NC_000011.10:119299544:C:T p.(Arg829Trp) NC_000011.10:119299544:C:T p.(Arg829Trp) NC_000011.10:119299544:C:T Identity +NM_001122606.1:c.1037del NP_001116078.1:p.Asn346fs NC_000023.11:120441785:TTT:TT p.(Asn346IlefsTer5) NC_000023.11:120441785:TTT:TT p.(Asn346IlefsTer5) NC_000023.11:120441785:T: Analogous +NM_006343.3:c.2621del NP_006334.2:p.Asn874fs NC_000002.12:112028483:AA:A p.(Asn874IlefsTer22) NC_000002.12:112028483:AA:A p.(Asn874IlefsTer22) NC_000002.12:112028484:A: Analogous +NM_000059.4:c.4135C>T NP_000050.3:p.Gln1379Ter NC_000013.11:32338489:C:T p.(Gln1379Ter) NC_000013.11:32338489:C:T p.(Gln1379Ter) NC_000013.11:32338489:C:T Identity +NM_181882.3:c.2939C>A NP_870998.2:p.Ala980Asp NC_000019.10:40395412:G:T p.(Ala980Asp) NC_000019.10:40395412:G:T p.(Ala980Asp) NC_000019.10:40395412:G:T Identity +NM_002439.5:c.1870G>A NP_002430.3:p.Gly624Arg NC_000005.10:80761651:G:A p.(Gly624Arg) NC_000005.10:80761651:G:A p.(Gly624Arg) NC_000005.10:80761651:G:A Identity +NM_001198842.2:c.908A>G NP_001185771.1:p.Glu303Gly NC_000012.12:69597221:A:G p.(Glu303Gly) NC_000012.12:69597221:A:G p.(Glu303Gly) NC_000012.12:69597221:A:G Identity +NM_001172810.3:c.433G>T NP_001166281.1:p.Glu145Ter NC_000017.11:74287063:G:T p.(Glu145Ter) NC_000017.11:74287063:G:T p.(Glu145Ter) NC_000017.11:74287063:G:T Identity +NM_001098268.2:c.911C>T NP_001091738.1:p.Ala304Val NC_000013.11:108210357:G:A p.(Ala304Val) NC_000013.11:108210357:G:A p.(Ala304Val) NC_000013.11:108210357:G:A Identity +NM_004518.6:c.119T>C NP_004509.2:p.Leu40Pro NC_000020.11:63472344:A:G p.(Leu40Pro) NC_000020.11:63472344:A:G p.(Leu40Pro) NC_000020.11:63472344:A:G Identity +NM_002900.3:c.1848C>G NP_002891.1:p.Ile616Met NC_000010.11:47350331:C:G p.(Ile616Met) NC_000010.11:47350331:C:G p.(Ile616Met) NC_000010.11:47350331:C:G Identity +NM_000143.4:c.1324A>G NP_000134.2:p.Thr442Ala NC_000001.11:241500502:T:C p.(Thr442Ala) NC_000001.11:241500502:T:C p.(Thr442Ala) NC_000001.11:241500502:T:C Identity +NM_000548.5:c.2707C>T NP_000539.2:p.Pro903Ser NC_000016.10:2076134:C:T p.(Pro903Ser) NC_000016.10:2076134:C:T p.(Pro903Ser) NC_000016.10:2076134:C:T Identity +NM_000245.4:c.2333A>C NP_000236.2:p.Asn778Thr NC_000007.14:116759458:A:C p.(Asn778Thr) NC_000007.14:116759458:A:C p.(Asn778Thr) NC_000007.14:116759458:A:C Identity +NM_001106.4:c.553G>C NP_001097.2:p.Val185Leu NC_000003.12:38478404:G:C p.(Val185Leu) NC_000003.12:38478404:G:C p.(Val185Leu) NC_000003.12:38478404:G:C Identity +NM_001330723.2:c.213C>G NP_001317652.1:p.Asn71Lys NC_000001.11:151612413:C:G p.(Asn71Lys) NC_000001.11:151612413:C:G p.(Asn71Lys) NC_000001.11:151612413:C:G Identity +NM_006231.4:c.6400G>A NP_006222.2:p.Asp2134Asn NC_000012.12:132626247:C:T p.(Asp2134Asn) NC_000012.12:132626247:C:T p.(Asp2134Asn) NC_000012.12:132626247:C:T Identity +NM_014845.6:c.175A>G NP_055660.1:p.Thr59Ala NC_000006.12:109716453:A:G p.(Thr59Ala) NC_000006.12:109716453:A:G p.(Thr59Ala) NC_000006.12:109716453:A:G Identity +NM_001142763.2:c.2015C>T NP_001136235.1:p.Thr672Met NC_000010.11:54079421:G:A p.(Thr672Met) NC_000010.11:54079421:G:A p.(Thr672Met) NC_000010.11:54079421:G:A Identity +NM_001293273.2:c.51G>A NP_001280202.1:p.Met17Ile NC_000003.12:183086781:C:T p.(Met17Ile) NC_000003.12:183086781:C:T p.(Met17Ile) NC_000003.12:183086781:C:T Identity +NM_013382.7:c.1433A>G NP_037514.2:p.His478Arg NC_000014.9:77285531:T:C p.(His478Arg) NC_000014.9:77285531:T:C p.(His478Arg) NC_000014.9:77285531:T:C Identity +NM_004329.3:c.797C>T NP_004320.2:p.Thr266Ile NC_000010.11:86917254:C:T p.(Thr266Ile) NC_000010.11:86917254:C:T p.(Thr266Ile) NC_000010.11:86917254:C:T Identity +NM_014334.4:c.512G>T NP_055149.3:p.Arg171Leu NC_000009.12:109141539:C:A p.(Arg171Leu) NC_000009.12:109141539:C:A p.(Arg171Leu) NC_000009.12:109141539:C:A Identity +NM_001330588.2:c.3781G>A NP_001317517.1:p.Val1261Ile NC_000013.11:102678307:G:A p.(Val1261Ile) NC_000013.11:102678307:G:A p.(Val1261Ile) NC_000013.11:102678307:G:A Identity +NM_020461.4:c.2093T>C NP_065194.3:p.Leu698Ser NC_000022.11:50224392:A:G p.(Leu698Ser) NC_000022.11:50224392:A:G p.(Leu698Ser) NC_000022.11:50224392:A:G Identity +NM_001103.4:c.1313G>A NP_001094.1:p.Arg438Gln NC_000001.11:236744682:G:A p.(Arg438Gln) NC_000001.11:236744682:G:A p.(Arg438Gln) NC_000001.11:236744682:G:A Identity +NM_001377273.1:c.2950C>T NP_001364202.1:p.Arg984Cys NC_000012.12:21845748:G:A p.(Arg984Cys) NC_000012.12:21845748:G:A p.(Arg984Cys) NC_000012.12:21845748:G:A Identity +NM_001079821.3:c.1217T>C NP_001073289.2:p.Met406Thr NC_000001.11:247424665:T:C p.(Met406Thr) NC_000001.11:247424665:T:C p.(Met406Thr) NC_000001.11:247424665:T:C Identity +NM_001164507.2:c.18008C>G NP_001157979.2:p.Pro6003Arg NC_000002.12:151567315:G:C p.(Pro6003Arg) NC_000002.12:151567315:G:C p.(Pro6003Arg) NC_000002.12:151567315:G:C Identity +NM_001178129.2:c.267T>A NP_001171600.1:p.Tyr89Ter NC_000007.14:83466490:A:T p.(Tyr89Ter) NC_000007.14:83466490:A:T p.(Tyr89Ter) NC_000007.14:83466490:A:T Identity +NM_006231.4:c.2097C>G NP_006222.2:p.Phe699Leu NC_000012.12:132668431:G:C p.(Phe699Leu) NC_000012.12:132668431:G:C p.(Phe699Leu) NC_000012.12:132668431:G:C Identity +NM_014141.6:c.2348A>C NP_054860.1:p.Lys783Thr NC_000007.14:147977953:A:C p.(Lys783Thr) NC_000007.14:147977953:A:C p.(Lys783Thr) NC_000007.14:147977953:A:C Identity +NM_001172420.2:c.1352C>G NP_001165891.1:p.Thr451Ser NC_000006.12:52479166:C:G p.(Thr451Ser) NC_000006.12:52479166:C:G p.(Thr451Ser) NC_000006.12:52479166:C:G Identity +NM_000243.3:c.548C>T NP_000234.1:p.Pro183Leu NC_000016.10:3254519:G:A p.(Pro183Leu) NC_000016.10:3254519:G:A p.(Pro183Leu) NC_000016.10:3254519:G:A Identity +NM_004260.4:c.754C>T NP_004251.4:p.Pro252Ser NC_000008.11:144516364:G:A p.(Pro252Ser) NC_000008.11:144516364:G:A p.(Pro252Ser) NC_000008.11:144516364:G:A Identity +NM_005732.4:c.2947G>A NP_005723.2:p.Val983Ile NC_000005.10:132609306:G:A p.(Val983Ile) NC_000005.10:132609306:G:A p.(Val983Ile) NC_000005.10:132609306:G:A Identity +NM_002641.4:c.242G>A NP_002632.1:p.Arg81His NC_000023.11:15331688:C:T p.(Arg81His) NC_000023.11:15331688:C:T p.(Arg81His) NC_000023.11:15331688:C:T Identity +NM_001321309.2:c.1858C>G NP_001308238.1:p.Leu620Val NC_000003.12:123707757:G:C p.(Leu620Val) NC_000003.12:123707757:G:C p.(Leu620Val) NC_000003.12:123707757:G:C Identity +NM_024334.3:c.355G>A NP_077310.1:p.Val119Met NC_000003.12:14131636:G:A p.(Val119Met) NC_000003.12:14131636:G:A p.(Val119Met) NC_000003.12:14131636:G:A Identity +NM_001271620.2:c.1487C>G NP_001258549.1:p.Thr496Arg NC_000016.10:49637484:G:C p.(Thr496Arg) NC_000016.10:49637484:G:C p.(Thr496Arg) NC_000016.10:49637484:G:C Identity +NM_000138.5:c.208G>A NP_000129.3:p.Gly70Arg NC_000015.10:48613048:C:T p.(Gly70Arg) NC_000015.10:48613048:C:T p.(Gly70Arg) NC_000015.10:48613048:C:T Identity +NM_002876.4:c.362C>T NP_002867.1:p.Thr121Ile NC_000017.11:58695146:C:T p.(Thr121Ile) NC_000017.11:58695146:C:T p.(Thr121Ile) NC_000017.11:58695146:C:T Identity +NM_000079.4:c.137G>A NP_000070.1:p.Arg46His NC_000002.12:174759539:C:T p.(Arg46His) NC_000002.12:174759539:C:T p.(Arg46His) NC_000002.12:174759539:C:T Identity +NM_000051.4:c.76_79del NP_000042.3:p.Glu26fs NC_000011.10:108227778:GAAG: p.(Glu26LeufsTer7) NC_000011.10:108227778:GAAG: p.(Glu26LeufsTer7) NC_000011.10:108227778:GAAG: Analogous +NM_000033.4:c.938T>A NP_000024.2:p.Leu313Gln NC_000023.11:153729268:T:A p.(Leu313Gln) NC_000023.11:153729268:T:A p.(Leu313Gln) NC_000023.11:153729268:T:A Identity +NM_001346897.2:c.1765G>A NP_001333826.1:p.Glu589Lys NC_000007.14:55171193:G:A p.(Glu589Lys) NC_000007.14:55171193:G:A p.(Glu589Lys) NC_000007.14:55171193:G:A Identity +NM_000271.5:c.3183A>G NP_000262.2:p.Ile1061Met NC_000018.10:23536734:T:C p.(Ile1061Met) NC_000018.10:23536734:T:C p.(Ile1061Met) NC_000018.10:23536734:T:C Identity +NM_001558.4:c.824C>T NP_001549.2:p.Pro275Leu NC_000011.10:117998727:C:T p.(Pro275Leu) NC_000011.10:117998727:C:T p.(Pro275Leu) NC_000011.10:117998727:C:T Identity +NM_001195573.1:c.2426C>T NP_001182502.1:p.Pro809Leu NC_000014.9:95108333:G:A p.(Pro809Leu) NC_000014.9:95108333:G:A p.(Pro809Leu) NC_000014.9:95108333:G:A Identity +NM_001195302.2:c.20T>C NP_001182231.1:p.Val7Ala NC_000016.10:58001502:T:C p.(Val7Ala) NC_000016.10:58001502:T:C p.(Val7Ala) NC_000016.10:58001502:T:C Identity +NM_004518.6:c.777C>A NP_004509.2:p.Asp259Glu NC_000020.11:63442444:G:T p.(Asp259Glu) NC_000020.11:63442444:G:T p.(Asp259Glu) NC_000020.11:63442444:G:T Identity +NM_000051.4:c.2262del NP_000042.3:p.Gln754fs NC_000011.10:108257490:AA:A p.(Gln754HisfsTer23) NC_000011.10:108257490:AA:A p.(Gln754HisfsTer23) NC_000011.10:108257491:A: Analogous +NM_005027.4:c.145C>T NP_005018.2:p.Arg49Cys NC_000019.10:18156023:C:T p.(Arg49Cys) NC_000019.10:18156023:C:T p.(Arg49Cys) NC_000019.10:18156023:C:T Identity +NM_001308276.2:c.1247C>T NP_001295205.1:p.Ser416Leu NC_000010.11:93797519:C:T p.(Ser416Leu) NC_000010.11:93797519:C:T p.(Ser416Leu) NC_000010.11:93797519:C:T Identity +NM_000251.3:c.208G>T NP_000242.1:p.Ala70Ser NC_000002.12:47403398:G:T p.(Ala70Ser) NC_000002.12:47403398:G:T p.(Ala70Ser) NC_000002.12:47403398:G:T Identity +NM_001008844.3:c.889G>C NP_001008844.1:p.Asp297His NC_000006.12:7565469:G:C p.(Asp297His) NC_000006.12:7565469:G:C p.(Asp297His) NC_000006.12:7565469:G:C Identity +NM_000179.3:c.1271T>C NP_000170.1:p.Val424Ala NC_000002.12:47799253:T:C p.(Val424Ala) NC_000002.12:47799253:T:C p.(Val424Ala) NC_000002.12:47799253:T:C Identity +NM_001377273.1:c.1013T>C NP_001364202.1:p.Ile338Thr NC_000012.12:21910976:A:G p.(Ile338Thr) NC_000012.12:21910976:A:G p.(Ile338Thr) NC_000012.12:21910976:A:G Identity +NM_006204.4:c.767A>T NP_006195.3:p.Asp256Val NC_000010.11:93621974:A:T p.(Asp256Val) NC_000010.11:93621974:A:T p.(Asp256Val) NC_000010.11:93621974:A:T Identity +NM_001318219.1:c.3719A>T NP_001305148.1:p.Glu1240Val NC_000020.11:35503983:A:T p.(Glu1240Val) NC_000020.11:35503983:A:T p.(Glu1240Val) NC_000020.11:35503983:A:T Identity +NM_001330358.2:c.986_987del NP_001317287.1:p.Lys329fs NC_000001.11:11795264:TTT:T p.(Lys329ArgfsTer53) NC_000001.11:11795264:TTT:T p.(Lys329ArgfsTer53) NC_000001.11:11795264:TT: Analogous +NM_001345856.2:c.2480C>G NP_001332785.1:p.Thr827Ser NC_000004.12:123256157:C:G p.(Thr827Ser) NC_000004.12:123256157:C:G p.(Thr827Ser) NC_000004.12:123256157:C:G Identity +NM_001174098.2:c.743A>G NP_001167569.1:p.Tyr248Cys NC_000010.11:71356212:A:G p.(Tyr248Cys) NC_000010.11:71356212:A:G p.(Tyr248Cys) NC_000010.11:71356212:A:G Identity +NM_001014431.2:c.340GAG[3] NP_001014431.1:p.Glu117del NC_000014.9:104775735:CTCCTCCTCCTCCT:CTCCTCCTCCT p.(Glu117del) NC_000014.9:104775746:C:CTCCTCCTC ERR:Parse ERR:Parse Identity +NM_001308379.2:c.477G>T NP_001295308.1:p.Glu159Asp NC_000003.12:50343339:C:A p.(Glu159Asp) NC_000003.12:50343339:C:A p.(Glu159Asp) NC_000003.12:50343339:C:A Identity +NM_001365536.1:c.304G>T NP_001352465.1:p.Ala102Ser NC_000002.12:166307028:C:A p.(Ala102Ser) NC_000002.12:166307028:C:A p.(Ala102Ser) NC_000002.12:166307028:C:A Identity +NM_005236.3:c.1304T>G NP_005227.1:p.Leu435Arg NC_000016.10:13935235:T:G p.(Leu435Arg) NC_000016.10:13935235:T:G p.(Leu435Arg) NC_000016.10:13935235:T:G Identity +NM_000191.3:c.766G>A NP_000182.2:p.Val256Met NC_000001.11:23804509:C:T p.(Val256Met) NC_000001.11:23804509:C:T p.(Val256Met) NC_000001.11:23804509:C:T Identity +NM_001142298.2:c.1064C>T NP_001135770.1:p.Pro355Leu NC_000005.10:179836585:C:T p.(Pro355Leu) NC_000005.10:179836585:C:T p.(Pro355Leu) NC_000005.10:179836585:C:T Identity +NM_001035507.3:c.1109A>G NP_001030584.1:p.Asn370Ser NC_000002.12:27055881:A:G p.(Asn370Ser) NC_000002.12:27055881:A:G p.(Asn370Ser) NC_000002.12:27055881:A:G Identity +NM_001148.6:c.7412G>A NP_001139.3:p.Ser2471Asn NC_000004.12:113356029:G:A p.(Ser2471Asn) NC_000004.12:113356029:G:A p.(Ser2471Asn) NC_000004.12:113356029:G:A Identity +NM_006612.6:c.385C>T NP_006603.2:p.Arg129Cys NC_000017.11:5002079:C:T p.(Arg129Cys) NC_000017.11:5002079:C:T p.(Arg129Cys) NC_000017.11:5002079:C:T Identity +NM_001130067.2:c.1370T>A NP_001123539.1:p.Met457Lys NC_000004.12:153295976:T:A p.(Met457Lys) NC_000004.12:153295976:T:A p.(Met457Lys) NC_000004.12:153295976:T:A Identity +NM_001023570.4:c.1240C>G NP_001018864.2:p.Leu414Val NC_000003.12:121788321:G:C p.(Leu414Val) NC_000003.12:121788321:G:C p.(Leu414Val) NC_000003.12:121788321:G:C Identity +NM_001352253.3:c.38C>T NP_001339182.1:p.Pro13Leu NC_000013.11:110706055:G:A p.(Pro13Leu) NC_000013.11:110706055:G:A p.(Pro13Leu) NC_000013.11:110706055:G:A Identity +NM_001110556.2:c.3763A>G NP_001104026.1:p.Thr1255Ala NC_000023.11:154360031:T:C p.(Thr1255Ala) NC_000023.11:154360031:T:C p.(Thr1255Ala) NC_000023.11:154360031:T:C Identity +NM_001349253.2:c.5107A>G NP_001336182.1:p.Met1703Val NC_000003.12:38846962:T:C p.(Met1703Val) NC_000003.12:38846962:T:C p.(Met1703Val) NC_000003.12:38846962:T:C Identity +NM_000553.6:c.2078C>T NP_000544.2:p.Ala693Val NC_000008.11:31100944:C:T p.(Ala693Val) NC_000008.11:31100944:C:T p.(Ala693Val) NC_000008.11:31100944:C:T Identity +NM_001369.3:c.5692G>A NP_001360.1:p.Asp1898Asn NC_000005.10:13840922:C:T p.(Asp1898Asn) NC_000005.10:13840922:C:T p.(Asp1898Asn) NC_000005.10:13840922:C:T Identity +NM_001172696.2:c.971_972del NP_001166167.1:p.Gln324fs NC_000012.12:57796512:AG: p.(Gln324ArgfsTer11) NC_000012.12:57796512:AG: p.(Gln324ArgfsTer11) NC_000012.12:57796512:AG: Analogous +NM_001111034.3:c.277G>A NP_001104504.1:p.Val93Ile NC_000019.10:11576827:C:T p.(Val93Ile) NC_000019.10:11576827:C:T p.(Val93Ile) NC_000019.10:11576827:C:T Identity +NM_006270.5:c.147C>A NP_006261.1:p.Phe49Leu NC_000019.10:49639951:G:T p.(Phe49Leu) NC_000019.10:49639951:G:T p.(Phe49Leu) NC_000019.10:49639951:G:T Identity +NM_000137.4:c.678T>G NP_000128.1:p.Phe226Leu NC_000015.10:80172219:T:G p.(Phe226Leu) NC_000015.10:80172219:T:G p.(Phe226Leu) NC_000015.10:80172219:T:G Identity +NM_001190458.2:c.3007C>A NP_001177387.1:p.His1003Asn NC_000009.12:404989:C:A p.(His1003Asn) NC_000009.12:404989:C:A p.(His1003Asn) NC_000009.12:404989:C:A Identity +NM_000833.5:c.2686A>G NP_000824.1:p.Lys896Glu NC_000016.10:9764857:T:C p.(Lys896Glu) NC_000016.10:9764857:T:C p.(Lys896Glu) NC_000016.10:9764857:T:C Identity +NM_006612.6:c.1852C>T NP_006603.2:p.Pro618Ser NC_000017.11:5020592:C:T p.(Pro618Ser) NC_000017.11:5020592:C:T p.(Pro618Ser) NC_000017.11:5020592:C:T Identity +NM_001136029.4:c.3758C>T NP_001129501.1:p.Thr1253Met NC_000022.11:31876244:C:T p.(Thr1253Met) NC_000022.11:31876244:C:T p.(Thr1253Met) NC_000022.11:31876244:C:T Identity +NM_002907.4:c.1652T>G NP_002898.2:p.Ile551Arg NC_000012.12:21471442:A:C p.(Ile551Arg) NC_000012.12:21471442:A:C p.(Ile551Arg) NC_000012.12:21471442:A:C Identity +NM_001271.4:c.2977A>G NP_001262.3:p.Met993Val NC_000015.10:92981367:A:G p.(Met993Val) NC_000015.10:92981367:A:G p.(Met993Val) NC_000015.10:92981367:A:G Identity +NM_022114.4:c.3436G>A NP_071397.3:p.Ala1146Thr NC_000001.11:3431022:G:A p.(Ala1146Thr) NC_000001.11:3431022:G:A p.(Ala1146Thr) NC_000001.11:3431022:G:A Identity +NM_014334.4:c.145G>C NP_055149.3:p.Asp49His NC_000009.12:109166993:C:G p.(Asp49His) NC_000009.12:109166993:C:G p.(Asp49His) NC_000009.12:109166993:C:G Identity +NM_001317184.2:c.1656CAT[1] NP_001304113.1:p.Ile554del NC_000016.10:68822127:CATCAT:CAT p.(Ile554del) NC_000016.10:68822127:C:CAT ERR:Parse ERR:Parse Identity +NM_000092.5:c.748C>T NP_000083.3:p.Gln250Ter NC_000002.12:227104039:G:A p.(Gln250Ter) NC_000002.12:227104039:G:A p.(Gln250Ter) NC_000002.12:227104039:G:A Identity +NM_001277155.3:c.341C>G NP_001264084.1:p.Thr114Ser NC_000001.11:235494722:G:C p.(Thr114Ser) NC_000001.11:235494722:G:C p.(Thr114Ser) NC_000001.11:235494722:G:C Identity +NM_001165963.4:c.4598T>A NP_001159435.1:p.Met1533Lys NC_000002.12:165994399:A:T p.(Met1533Lys) NC_000002.12:165994399:A:T p.(Met1533Lys) NC_000002.12:165994399:A:T Identity +NM_000335.5:c.5491C>A NP_000326.2:p.Gln1831Lys NC_000003.12:38550877:G:T p.(Gln1831Lys) NC_000003.12:38550877:G:T p.(Gln1831Lys) NC_000003.12:38550877:G:T Identity +NM_001166114.2:c.2929G>A NP_001159586.1:p.Gly977Arg NC_000019.10:7555359:G:A p.(Gly977Arg) NC_000019.10:7555359:G:A p.(Gly977Arg) NC_000019.10:7555359:G:A Identity +NM_000334.4:c.1595A>G NP_000325.4:p.Asp532Gly NC_000017.11:63963682:T:C p.(Asp532Gly) NC_000017.11:63963682:T:C p.(Asp532Gly) NC_000017.11:63963682:T:C Identity +NM_001029883.3:c.1697AGG[3] NP_001025054.1:p.Glu569del NC_000002.12:29072553:CCTCCTCCTCCTC:CCTCCTCCTC p.(Glu569del) NC_000002.12:29072564:T:CCTCCTCCT ERR:Parse ERR:Parse Identity +NM_014855.3:c.379G>C NP_055670.1:p.Glu127Gln NC_000007.14:4783327:G:C p.(Glu127Gln) NC_000007.14:4783327:G:C p.(Glu127Gln) NC_000007.14:4783327:G:C Identity +NM_001927.4:c.62C>A NP_001918.3:p.Ala21Asp NC_000002.12:219418523:C:A p.(Ala21Asp) NC_000002.12:219418523:C:A p.(Ala21Asp) NC_000002.12:219418523:C:A Identity +NM_002230.4:c.646C>T NP_002221.1:p.Arg216Trp NC_000017.11:41769029:G:A p.(Arg216Trp) NC_000017.11:41769029:G:A p.(Arg216Trp) NC_000017.11:41769029:G:A Identity +NM_001079812.3:c.88G>A NP_001073280.1:p.Gly30Ser NC_000005.10:141618826:C:T p.(Gly30Ser) NC_000005.10:141618826:C:T p.(Gly30Ser) NC_000005.10:141618826:C:T Identity +NM_001033054.3:c.442C>G NP_001028226.1:p.Leu148Val NC_000017.11:6426891:G:C p.(Leu148Val) NC_000017.11:6426891:G:C p.(Leu148Val) NC_000017.11:6426891:G:C Identity +NM_001407571.1:c.2761del NP_001394500.1:p.Thr921fs NC_000017.11:43092556:TTTT:TTT p.(Thr921LeufsTer8) NC_000017.11:43092556:TTTT:TTT p.(Thr921LeufsTer8) NC_000017.11:43092556:T: Analogous +NM_001142800.2:c.4199C>A NP_001136272.1:p.Ser1400Ter NC_000006.12:64591667:G:T p.(Ser1400Ter) NC_000006.12:64591667:G:T p.(Ser1400Ter) NC_000006.12:64591667:G:T Identity +NM_024675.4:c.2922G>C NP_078951.2:p.Lys974Asn NC_000016.10:23623042:C:G p.(Lys974Asn) NC_000016.10:23623042:C:G p.(Lys974Asn) NC_000016.10:23623042:C:G Identity +NM_001126105.3:c.896C>G NP_001119577.1:p.Thr299Ser NC_000014.9:22775934:G:C p.(Thr299Ser) NC_000014.9:22775934:G:C p.(Thr299Ser) NC_000014.9:22775934:G:C Identity +NM_001098268.2:c.95G>T NP_001091738.1:p.Arg32Leu NC_000013.11:108211173:C:A p.(Arg32Leu) NC_000013.11:108211173:C:A p.(Arg32Leu) NC_000013.11:108211173:C:A Identity +NM_014365.3:c.526A>G NP_055180.1:p.Thr176Ala NC_000012.12:119193792:A:G p.(Thr176Ala) NC_000012.12:119193792:A:G p.(Thr176Ala) NC_000012.12:119193792:A:G Identity +NM_001035512.3:c.145dup NP_001030589.1:p.Ser49fs NC_000001.11:161356681:T:TT p.(Ser49PhefsTer15) NC_000001.11:161356681:T:TT p.(Ser49PhefsTer15) ERR:SPDI Analogous +NM_001252650.2:c.580G>T NP_001239579.1:p.Ala194Ser NC_000014.9:67685078:C:A p.(Ala194Ser) NC_000014.9:67685078:C:A p.(Ala194Ser) NC_000014.9:67685078:C:A Identity +NM_000387.6:c.88C>T NP_000378.1:p.Pro30Ser NC_000003.12:48898706:G:A p.(Pro30Ser) NC_000003.12:48898706:G:A p.(Pro30Ser) NC_000003.12:48898706:G:A Identity +NM_000038.6:c.1972_1973delinsAT NP_000029.2:p.Glu658Met NC_000005.10:112837565:GA:AT p.(Glu658Met) NC_000005.10:112837565:GA:AT p.(Glu658Met) NC_000005.10:112837565:GA:AT Identity +NM_145290.4:c.3721G>A NP_660333.2:p.Asp1241Asn NC_000004.12:22387949:C:T p.(Asp1241Asn) NC_000004.12:22387949:C:T p.(Asp1241Asn) NC_000004.12:22387949:C:T Identity +NM_001288951.2:c.2456dup NP_001275880.1:p.Ser820fs NC_000002.12:47073728:AA:AAA p.(Ser820GlufsTer9) NC_000002.12:47073728:AA:AAA p.(Ser820GlufsTer9) ERR:SPDI Analogous +NM_015512.5:c.2542C>T NP_056327.4:p.Arg848Cys NC_000003.12:52350003:C:T p.(Arg848Cys) NC_000003.12:52350003:C:T p.(Arg848Cys) NC_000003.12:52350003:C:T Identity +NM_000445.5:c.13586G>A NP_000436.2:p.Arg4529His NC_000008.11:143916315:C:T p.(Arg4529His) NC_000008.11:143916315:C:T p.(Arg4529His) NC_000008.11:143916315:C:T Identity +NM_014845.6:c.266C>T NP_055660.1:p.Ala89Val NC_000006.12:109716544:C:T p.(Ala89Val) NC_000006.12:109716544:C:T p.(Ala89Val) NC_000006.12:109716544:C:T Identity +NM_006231.4:c.2599G>C NP_006222.2:p.Val867Leu NC_000012.12:132664110:C:G p.(Val867Leu) NC_000012.12:132664110:C:G p.(Val867Leu) NC_000012.12:132664110:C:G Identity +NM_001199107.2:c.1075G>C NP_001186036.1:p.Glu359Gln NC_000016.10:2498328:G:C p.(Glu359Gln) NC_000016.10:2498328:G:C p.(Glu359Gln) NC_000016.10:2498328:G:C Identity +NM_001349253.2:c.1525C>T NP_001336182.1:p.His509Tyr NC_000003.12:38905269:G:A p.(His509Tyr) NC_000003.12:38905269:G:A p.(His509Tyr) NC_000003.12:38905269:G:A Identity +NM_001352253.3:c.71C>T NP_001339182.1:p.Ala24Val NC_000013.11:110706022:G:A p.(Ala24Val) NC_000013.11:110706022:G:A p.(Ala24Val) NC_000013.11:110706022:G:A Identity +NM_021620.4:c.1151G>C NP_067633.2:p.Gly384Ala NC_000006.12:99613785:G:C p.(Gly384Ala) NC_000006.12:99613785:G:C p.(Gly384Ala) NC_000006.12:99613785:G:C Identity +NM_001201459.2:c.826C>T NP_001188388.1:p.Arg276Cys NC_000002.12:27378158:G:A p.(Arg276Cys) NC_000002.12:27378158:G:A p.(Arg276Cys) NC_000002.12:27378158:G:A Identity +NM_000350.3:c.5642C>T NP_000341.2:p.Ala1881Val NC_000001.11:94010871:G:A p.(Ala1881Val) NC_000001.11:94010871:G:A p.(Ala1881Val) NC_000001.11:94010871:G:A Identity +NM_001134363.3:c.2182G>T NP_001127835.2:p.Glu728Ter NC_000010.11:110812578:G:T p.(Glu728Ter) NC_000010.11:110812578:G:T p.(Glu728Ter) NC_000010.11:110812578:G:T Identity +NM_000172.4:c.547A>C NP_000163.2:p.Thr183Pro NC_000003.12:50193849:A:C p.(Thr183Pro) NC_000003.12:50193849:A:C p.(Thr183Pro) NC_000003.12:50193849:A:C Identity +NM_004370.6:c.3485A>C NP_004361.3:p.Asp1162Ala NC_000006.12:75154495:T:G p.(Asp1162Ala) NC_000006.12:75154495:T:G p.(Asp1162Ala) NC_000006.12:75154495:T:G Identity +NM_001370528.1:c.1175C>A NP_001357457.1:p.Pro392His NC_000003.12:64147314:G:T p.(Pro392His) NC_000003.12:64147314:G:T p.(Pro392His) NC_000003.12:64147314:G:T Identity +NM_001348045.3:c.927G>C NP_001334974.1:p.Glu309Asp NC_000007.14:33344597:G:C p.(Glu309Asp) NC_000007.14:33344597:G:C p.(Glu309Asp) NC_000007.14:33344597:G:C Identity +NM_001271938.2:c.8466_8467delinsAG NP_001258867.1:p.Ser2823Gly NC_000019.10:42376702:CA:AG p.(Ser2823Gly) NC_000019.10:42376702:CA:AG p.(Ser2823Gly) NC_000019.10:42376702:CA:AG Identity +NM_001130823.3:c.4424A>G NP_001124295.1:p.His1475Arg NC_000019.10:10137149:T:C p.(His1475Arg) NC_000019.10:10137149:T:C p.(His1475Arg) NC_000019.10:10137149:T:C Identity +NM_032790.4:c.14C>T NP_116179.2:p.Pro5Leu NC_000012.12:121626755:C:T p.(Pro5Leu) NW_018654719.1:32531:C:T p.(Pro5Leu) NC_000012.12:32531:T:T Identity +NM_000051.4:c.3752G>T NP_000042.3:p.Cys1251Phe NC_000011.10:108284231:G:T p.(Cys1251Phe) NC_000011.10:108284231:G:T p.(Cys1251Phe) NC_000011.10:108284231:G:T Identity +NM_001014794.3:c.7G>C NP_001014794.1:p.Asp3His NC_000011.10:6604277:G:C p.(Asp3His) NC_000011.10:6604277:G:C p.(Asp3His) NC_000011.10:6604277:G:C Identity +NM_152383.5:c.2149G>A NP_689596.4:p.Ala717Thr NC_000002.12:232333977:G:A p.(Ala717Thr) NC_000002.12:232333977:G:A p.(Ala717Thr) NC_000002.12:232333977:G:A Identity +NM_001308133.2:c.2500_2502del NP_001295062.1:p.Glu834del NC_000014.9:45175329:AAGAA:AA p.(Glu834del) NC_000014.9:45175329:AAGAA:AA p.(Glu834del) NC_000014.9:45175331:GAA: Identity +NM_001364171.2:c.1313G>A NP_001351100.1:p.Ser438Asn NC_000019.10:48298267:C:T p.(Ser438Asn) NC_000019.10:48298267:C:T p.(Ser438Asn) NC_000019.10:48298267:C:T Identity +NM_000135.4:c.703C>T NP_000126.2:p.Leu235Phe NC_000016.10:89805285:G:A p.(Leu235Phe) NC_000016.10:89805285:G:A p.(Leu235Phe) NC_000016.10:89805285:G:A Identity +NM_001321135.2:c.1126G>A NP_001308064.1:p.Gly376Ser NC_000015.10:77037107:G:A p.(Gly376Ser) NC_000015.10:77037107:G:A p.(Gly376Ser) NC_000015.10:77037107:G:A Identity +NM_001301226.2:c.464C>T NP_001288155.1:p.Ala155Val NC_000009.12:35685461:G:A p.(Ala155Val) NC_000009.12:35685461:G:A p.(Ala155Val) NC_000009.12:35685461:G:A Identity +NM_001111125.3:c.590G>T NP_001104595.1:p.Arg197Leu NC_000023.11:53320533:C:A p.(Arg197Leu) NC_000023.11:53320533:C:A p.(Arg197Leu) NC_000023.11:53320533:C:A Identity +NM_016373.4:c.82A>C NP_057457.1:p.Lys28Gln NC_000016.10:78099859:A:C p.(Lys28Gln) NC_000016.10:78099859:A:C p.(Lys28Gln) NC_000016.10:78099859:A:C Identity +NM_001131005.2:c.958del NP_001124477.1:p.Leu320fs NC_000005.10:88728604:GG:G p.(Leu320CysfsTer18) NC_000005.10:88728604:GG:G p.(Leu320CysfsTer18) NC_000005.10:88728604:G: Analogous +NM_000548.5:c.3193A>C NP_000539.2:p.Lys1065Gln NC_000016.10:2079336:A:C p.(Lys1065Gln) NC_000016.10:2079336:A:C p.(Lys1065Gln) NC_000016.10:2079336:A:C Identity +NM_004104.5:c.7342G>A NP_004095.4:p.Ala2448Thr NC_000017.11:82079412:C:T p.(Ala2448Thr) NC_000017.11:82079412:C:T p.(Ala2448Thr) NC_000017.11:82079412:C:T Identity +NM_000243.3:c.94A>T NP_000234.1:p.Ser32Cys NC_000016.10:3256493:T:A p.(Ser32Cys) NC_000016.10:3256493:T:A p.(Ser32Cys) NC_000016.10:3256493:T:A Identity +NM_001377322.1:c.613A>G NP_001364251.1:p.Met205Val NC_000010.11:20809814:T:C p.(Met205Val) NC_000010.11:20809814:T:C p.(Met205Val) NC_000010.11:20809814:T:C Identity +NM_000495.5:c.4829C>A NP_000486.1:p.Ser1610Ter NC_000023.11:108695291:C:A p.(Ser1610Ter) NC_000023.11:108695291:C:A p.(Ser1610Ter) NC_000023.11:108695291:C:A Identity +NM_005419.4:c.1061A>G NP_005410.1:p.Asn354Ser NC_000012.12:56350861:T:C p.(Asn354Ser) NC_000012.12:56350861:T:C p.(Asn354Ser) NC_000012.12:56350861:T:C Identity +NM_006231.4:c.5934C>A NP_006222.2:p.Asn1978Lys NC_000012.12:132634255:G:T p.(Asn1978Lys) NC_000012.12:132634255:G:T p.(Asn1978Lys) NC_000012.12:132634255:G:T Identity +NM_001005336.3:c.2474C>T NP_001005336.1:p.Pro825Leu NC_000009.12:128250879:C:T p.(Pro825Leu) NC_000009.12:128250879:C:T p.(Pro825Leu) NC_000009.12:128250879:C:T Identity +NM_001130438.3:c.3194G>A NP_001123910.1:p.Arg1065His NC_000009.12:128593020:G:A p.(Arg1065His) NC_000009.12:128593020:G:A p.(Arg1065His) NC_000009.12:128593020:G:A Identity +NM_017617.5:c.5333C>G NP_060087.3:p.Ala1778Gly NC_000009.12:136502322:G:C p.(Ala1778Gly) NC_000009.12:136502322:G:C p.(Ala1778Gly) NC_000009.12:136502322:G:C Identity +NM_000051.4:c.5207G>A NP_000042.3:p.Cys1736Tyr NC_000011.10:108301676:G:A p.(Cys1736Tyr) NC_000011.10:108301676:G:A p.(Cys1736Tyr) NC_000011.10:108301676:G:A Identity +NM_004304.5:c.1635C>G NP_004295.2:p.Ser545Arg NC_000002.12:29318315:G:C p.(Ser545Arg) NC_000002.12:29318315:G:C p.(Ser545Arg) NC_000002.12:29318315:G:C Identity +NM_001134830.2:c.562T>A NP_001128302.1:p.Leu188Met NC_000006.12:135466000:A:T p.(Leu188Met) NC_000006.12:135466000:A:T p.(Leu188Met) NC_000006.12:135466000:A:T Identity +NM_000553.6:c.3718GAA[1] NP_000544.2:p.Glu1241del NC_000008.11:31154651:AAGAAGAA:AAGAA p.(Glu1241del) NC_000008.11:31154653:G:GAA ERR:Parse ERR:Parse Identity +NM_001267727.2:c.195T>A NP_001254656.1:p.Asp65Glu NC_000017.11:68307687:T:A p.(Asp65Glu) NC_000017.11:68307687:T:A p.(Asp65Glu) NC_000017.11:68307687:T:A Identity +NM_152443.3:c.569G>A NP_689656.2:p.Ser190Asn NC_000014.9:67727100:G:A p.(Ser190Asn) NC_000014.9:67727100:G:A p.(Ser190Asn) NC_000014.9:67727100:G:A Identity +NM_001110556.2:c.7768CTG[1] NP_001104026.1:p.Leu2591del NC_000023.11:154349019:CAGCAGCA:CAGCA p.(Leu2591del) NC_000023.11:154349024:G:CAG ERR:Parse ERR:Parse Identity +NM_002878.4:c.221A>G NP_002869.3:p.Glu74Gly NC_000017.11:35118542:T:C p.(Glu74Gly) NC_000017.11:35118542:T:C p.(Glu74Gly) NC_000017.11:35118542:T:C Identity +NM_015335.5:c.1127T>G NP_056150.1:p.Met376Arg NC_000012.12:116015156:A:C p.(Met376Arg) NC_000012.12:116015156:A:C p.(Met376Arg) NC_000012.12:116015156:A:C Identity +NM_000059.4:c.3521G>T NP_000050.3:p.Gly1174Val NC_000013.11:32337875:G:T p.(Gly1174Val) NC_000013.11:32337875:G:T p.(Gly1174Val) NC_000013.11:32337875:G:T Identity +NM_000143.4:c.644A>T NP_000134.2:p.His215Leu NC_000001.11:241508696:T:A p.(His215Leu) NC_000001.11:241508696:T:A p.(His215Leu) NC_000001.11:241508696:T:A Identity +NM_001354598.3:c.870del NP_001341527.2:p.Pro291fs NC_000015.10:40414968:GGGGGG:GGGGG p.(Pro291LeufsTer18) NC_000015.10:40414968:GGGGGG:GGGGG p.(Pro291LeufsTer18) NC_000015.10:40414973:G: Analogous +NM_001330723.2:c.1025A>G NP_001317652.1:p.Tyr342Cys NC_000001.11:151668510:A:G p.(Tyr342Cys) NC_000001.11:151668510:A:G p.(Tyr342Cys) NC_000001.11:151668510:A:G Identity +NM_005458.8:c.890C>G NP_005449.5:p.Ala297Gly NC_000009.12:98473254:G:C p.(Ala297Gly) NC_000009.12:98473254:G:C p.(Ala297Gly) NC_000009.12:98473254:G:C Identity +NM_001193465.2:c.406G>C NP_001180394.1:p.Glu136Gln NC_000017.11:46171737:C:G p.(Glu136Gln) NC_000017.11:46171737:C:G p.(Glu136Gln) NC_000017.11:46171737:C:G Identity +NM_000548.5:c.4952del NP_000539.2:p.Asn1651fs NC_000016.10:2086832:AA:A p.(Asn1651MetfsTer21) NC_000016.10:2086832:AA:A p.(Asn1651MetfsTer21) NC_000016.10:2086833:A: Analogous +NM_025099.6:c.855A>C NP_079375.3:p.Glu285Asp NC_000017.11:8236279:T:G p.(Glu285Asp) NC_000017.11:8236279:T:G p.(Glu285Asp) NC_000017.11:8236279:T:G Identity +NM_001164507.2:c.1333C>T NP_001157979.2:p.His445Tyr NC_000002.12:151697381:G:A p.(His445Tyr) NC_000002.12:151697381:G:A p.(His445Tyr) NC_000002.12:151697381:G:A Identity +NM_032043.3:c.2962T>C NP_114432.2:p.Ser988Pro NC_000017.11:61684083:A:G p.(Ser988Pro) NC_000017.11:61684083:A:G p.(Ser988Pro) NC_000017.11:61684083:A:G Identity +NM_001257281.2:c.1459C>A NP_001244210.1:p.Arg487Ser NC_000002.12:232263239:C:A p.(Arg487Ser) NC_000002.12:232263239:C:A p.(Arg487Ser) NC_000002.12:232263239:C:A Identity +NM_001035.3:c.6192G>T NP_001026.2:p.Glu2064Asp NC_000001.11:237627831:G:T p.(Glu2064Asp) NC_000001.11:237627831:G:T p.(Glu2064Asp) NC_000001.11:237627831:G:T Identity +NM_000059.4:c.3396dup NP_000050.3:p.Pro1133fs NC_000013.11:32337747:AAAA:AAAAA p.(Pro1133ThrfsTer11) NC_000013.11:32337747:AAAA:AAAAA p.(Pro1133ThrfsTer11) ERR:SPDI Analogous +LRG_1287t1:c.1243A>T LRG_1287p1:p.Ile415Leu NC_000007.14:83400150:T:A ERR:Data provider error: ValueError: Transcript LRG_1287t1 not found ERR:Data provider error: ValueError: Transcript LRG_1287t1 not found ERR:AlignmentMapper(tx_ac=LRG_1287t1, alt_ac=LRG_1287t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1287t1, alt_ac=LRG_1287t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1287t1 not found +NM_000059.4:c.7525A>G NP_000050.3:p.Ser2509Gly NC_000013.11:32356516:A:G p.(Ser2509Gly) NC_000013.11:32356516:A:G p.(Ser2509Gly) NC_000013.11:32356516:A:G Identity +NM_004518.6:c.2464G>A NP_004509.2:p.Gly822Arg NC_000020.11:63406714:C:T p.(Gly822Arg) NC_000020.11:63406714:C:T p.(Gly822Arg) NC_000020.11:63406714:C:T Identity +NM_000028.3:c.3184G>T NP_000019.2:p.Ala1062Ser NC_000001.11:99892531:G:T p.(Ala1062Ser) NC_000001.11:99892531:G:T p.(Ala1062Ser) NC_000001.11:99892531:G:T Identity +NM_001042529.3:c.1520G>C NP_001035994.1:p.Ser507Thr NC_000017.11:42565692:G:C p.(Ser507Thr) NC_000017.11:42565692:G:C p.(Ser507Thr) NC_000017.11:42565692:G:C Identity +NM_000081.4:c.427A>C NP_000072.2:p.Ser143Arg NC_000001.11:235810390:T:G p.(Ser143Arg) NC_000001.11:235810390:T:G p.(Ser143Arg) NC_000001.11:235810390:T:G Identity +NM_004304.5:c.334G>A NP_004295.2:p.Ala112Thr NC_000002.12:29920325:C:T p.(Ala112Thr) NC_000002.12:29920325:C:T p.(Ala112Thr) NC_000002.12:29920325:C:T Identity +NM_001293306.2:c.151C>G NP_001280235.2:p.Pro51Ala NC_000003.12:38793859:G:C p.(Pro51Ala) NC_000003.12:38793859:G:C p.(Pro51Ala) NC_000003.12:38793859:G:C Identity +NM_000059.4:c.7349A>G NP_000050.3:p.Asn2450Ser NC_000013.11:32355201:A:G p.(Asn2450Ser) NC_000013.11:32355201:A:G p.(Asn2450Ser) NC_000013.11:32355201:A:G Identity +NM_000203.5:c.164dup NP_000194.2:p.Leu56fs NC_000004.12:987808:CCCCCC:CCCCCCC p.(Leu56AlafsTer7) NC_000004.12:987808:CCCCCC:CCCCCCC p.(Leu56AlafsTer7) ERR:SPDI Analogous +NM_005045.4:c.4840A>G NP_005036.2:p.Ile1614Val NC_000007.14:103566319:T:C p.(Ile1614Val) NC_000007.14:103566319:T:C p.(Ile1614Val) NC_000007.14:103566319:T:C Identity +NM_001142800.2:c.3446G>A NP_001136272.1:p.Cys1149Tyr NC_000006.12:64626242:C:T p.(Cys1149Tyr) NC_000006.12:64626242:C:T p.(Cys1149Tyr) NC_000006.12:64626242:C:T Identity +NM_001035.3:c.5635G>A NP_001026.2:p.Gly1879Ser NC_000001.11:237614762:G:A p.(Gly1879Ser) NC_000001.11:237614762:G:A p.(Gly1879Ser) NC_000001.11:237614762:G:A Identity +NM_000426.4:c.6277G>A NP_000417.3:p.Ala2093Thr NC_000006.12:129445668:G:A p.(Ala2093Thr) NC_000006.12:129445668:G:A p.(Ala2093Thr) NC_000006.12:129445668:G:A Identity +NM_000462.5:c.1577A>G NP_000453.2:p.Lys526Arg NC_000015.10:25370605:T:C p.(Lys526Arg) NC_000015.10:25370605:T:C p.(Lys526Arg) NC_000015.10:25370605:T:C Identity +NM_006767.4:c.1856G>A NP_006758.2:p.Arg619His NC_000022.11:20994939:G:A p.(Arg619His) NC_000022.11:20994939:G:A p.(Arg619His) NC_000022.11:20994939:G:A Identity +NM_001376.5:c.10887C>G NP_001367.2:p.Phe3629Leu NC_000014.9:102036620:C:G p.(Phe3629Leu) NC_000014.9:102036620:C:G p.(Phe3629Leu) NC_000014.9:102036620:C:G Identity +NM_015072.5:c.3393del NP_055887.3:p.Val1133fs NC_000014.9:75863732:A: p.(Val1133TrpfsTer58) NC_000014.9:75863732:A: p.(Val1133TrpfsTer58) NC_000014.9:75863732:A: Analogous +NM_001256849.1:c.244C>T NP_001243778.1:p.Pro82Ser NC_000019.10:50399411:C:T p.(Pro82Ser) NC_000019.10:50399411:C:T p.(Pro82Ser) NC_000019.10:50399411:C:T Identity +NM_000089.4:c.2969C>A NP_000080.2:p.Ala990Asp NC_000007.14:94426022:C:A p.(Ala990Asp) NC_000007.14:94426022:C:A p.(Ala990Asp) NC_000007.14:94426022:C:A Identity +NM_001369.3:c.13609G>T NP_001360.1:p.Gly4537Cys NC_000005.10:13700753:C:A p.(Gly4537Cys) NC_000005.10:13700753:C:A p.(Gly4537Cys) NC_000005.10:13700753:C:A Identity +NM_006445.4:c.5548C>T NP_006436.3:p.Arg1850Ter NC_000017.11:1656718:G:A p.(Arg1850Ter) NC_000017.11:1656718:G:A p.(Arg1850Ter) NC_000017.11:1656718:G:A Identity +NM_001031681.3:c.841dup NP_001026851.2:p.Tyr281fs NC_000017.11:3658163:T:TT p.(Tyr281LeufsTer15) NC_000017.11:3658163:T:TT p.(Tyr281LeufsTer15) ERR:SPDI Analogous +NM_001144769.5:c.2667A>C NP_001138241.1:p.Glu889Asp NC_000006.12:56639542:T:G p.(Glu889Asp) NC_000006.12:56639542:T:G p.(Glu889Asp) NC_000006.12:56639542:T:G Identity +NM_001272003.2:c.2243C>T NP_001258932.1:p.Ala748Val NC_000009.12:135777365:C:T p.(Ala748Val) NC_000009.12:135777365:C:T p.(Ala748Val) NC_000009.12:135777365:C:T Identity +NM_001256213.2:c.1597G>A NP_001243142.1:p.Glu533Lys NC_000019.10:41978671:C:T p.(Glu533Lys) NC_000019.10:41978671:C:T p.(Glu533Lys) NC_000019.10:41978671:C:T Identity +NM_001258040.3:c.1273A>G NP_001244969.1:p.Ile425Val NC_000005.10:140674743:T:C p.(Ile425Val) NC_000005.10:140674743:T:C p.(Ile425Val) NC_000005.10:140674743:T:C Identity +NM_001005242.3:c.144_165del NP_001005242.2:p.Gln49fs NC_000012.12:32896566:CCGCAGGCTCTTGACTGTCTGGCCGC:CCGC p.(Gln49SerfsTer56) NC_000012.12:32896566:CCGCAGGCTCTTGACTGTCTGGCCGC:CCGC p.(Gln49SerfsTer56) NC_000012.12:32896566:CCGCAGGCTCTTGACTGTCTGG: Analogous +NM_001199138.2:c.1978A>G NP_001186067.1:p.Arg660Gly NC_000002.12:32249885:T:C p.(Arg660Gly) NC_000002.12:32249885:T:C p.(Arg660Gly) NC_000002.12:32249885:T:C Identity +NM_001377260.1:c.202G>C NP_001364189.1:p.Gly68Arg NC_000001.11:231421686:C:G p.(Gly68Arg) NC_000001.11:231421686:C:G p.(Gly68Arg) NC_000001.11:231421686:C:G Identity +NM_032444.4:c.2612C>T NP_115820.2:p.Ala871Val NC_000016.10:3591025:G:A p.(Ala871Val) NC_000016.10:3591025:G:A p.(Ala871Val) NC_000016.10:3591025:G:A Identity +NM_001142800.2:c.5189G>A NP_001136272.1:p.Gly1730Glu NC_000006.12:64590677:C:T p.(Gly1730Glu) NC_000006.12:64590677:C:T p.(Gly1730Glu) NC_000006.12:64590677:C:T Identity +NM_001287489.2:c.4484G>A NP_001274418.1:p.Arg1495Gln NC_000002.12:26466729:C:T p.(Arg1495Gln) NC_000002.12:26466729:C:T p.(Arg1495Gln) NC_000002.12:26466729:C:T Identity +NM_000323.2:c.1588G>C NP_000314.1:p.Glu530Gln NC_000010.11:43112163:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001144881.2:c.977G>A NP_001138353.1:p.Arg326Gln NC_000012.12:42465056:C:T p.(Arg326Gln) NC_000012.12:42465056:C:T p.(Arg326Gln) NC_000012.12:42465056:C:T Identity +NM_032444.4:c.4333C>G NP_115820.2:p.Arg1445Gly NC_000016.10:3589304:G:C p.(Arg1445Gly) NC_000016.10:3589304:G:C p.(Arg1445Gly) NC_000016.10:3589304:G:C Identity +NM_001304418.3:c.1657G>A NP_001291347.1:p.Val553Met NC_000003.12:69109120:C:T p.(Val553Met) NC_000003.12:69109120:C:T p.(Val553Met) NC_000003.12:69109120:C:T Identity +NM_181882.3:c.2185C>T NP_870998.2:p.Leu729Phe NC_000019.10:40396166:G:A p.(Leu729Phe) NC_000019.10:40396166:G:A p.(Leu729Phe) NC_000019.10:40396166:G:A Identity +NM_001258392.3:c.193G>T NP_001245321.1:p.Gly65Ter NC_000011.10:72434281:C:A p.(Gly65Ter) NC_000011.10:72434281:C:A p.(Gly65Ter) NC_000011.10:72434281:C:A Identity +NM_000038.6:c.6433G>A NP_000029.2:p.Gly2145Arg NC_000005.10:112842026:G:A p.(Gly2145Arg) NC_000005.10:112842026:G:A p.(Gly2145Arg) NC_000005.10:112842026:G:A Identity +NM_001160227.2:c.4822C>T NP_001153699.1:p.Leu1608Phe NC_000015.10:44589335:G:A p.(Leu1608Phe) NC_000015.10:44589335:G:A p.(Leu1608Phe) NC_000015.10:44589335:G:A Identity +NM_000244.4:c.148G>A NP_000235.3:p.Val50Ile NC_000011.10:64809961:C:T p.(Val50Ile) NC_000011.10:64809961:C:T p.(Val50Ile) NC_000011.10:64809961:C:T Identity +NM_001346897.2:c.1904G>A NP_001333826.1:p.Arg635Gln NC_000007.14:55173101:G:A p.(Arg635Gln) NC_000007.14:55173101:G:A p.(Arg635Gln) NC_000007.14:55173101:G:A Identity +NM_001135040.3:c.2243G>A NP_001128512.1:p.Arg748His NC_000002.12:74367057:C:T p.(Arg748His) NC_000002.12:74367057:C:T p.(Arg748His) NC_000002.12:74367057:C:T Identity +NM_001083885.3:c.1469G>A NP_001077354.2:p.Arg490Gln NC_000009.12:114402859:C:T p.(Arg490Gln) NC_000009.12:114402859:C:T p.(Arg490Gln) NC_000009.12:114402859:C:T Identity +NM_020964.3:c.3034G>A NP_066015.2:p.Ala1012Thr NC_000018.10:45922404:C:T p.(Ala1012Thr) NC_000018.10:45922404:C:T p.(Ala1012Thr) NC_000018.10:45922404:C:T Identity +NM_001193306.2:c.570G>C NP_001180235.1:p.Arg190Ser NC_000019.10:51746424:C:G p.(Arg190Ser) NC_000019.10:51746424:C:G p.(Arg190Ser) NC_000019.10:51746424:C:G Identity +NM_004565.3:c.816GTC[1] NP_004556.1:p.Ser275del NC_000001.11:10629667:CGTCGTC:CGTC p.(Ser275del) NC_000001.11:10629668:G:GTC ERR:Parse ERR:Parse Identity +NM_000548.5:c.322dup NP_000539.2:p.Ile108fs NC_000016.10:2053437:A:AA p.(Ile108AsnfsTer18) NC_000016.10:2053437:A:AA p.(Ile108AsnfsTer18) ERR:SPDI Analogous +NM_001301834.1:c.193G>C NP_001288763.1:p.Val65Leu NC_000012.12:6944615:G:C p.(Val65Leu) NC_000012.12:6944615:G:C p.(Val65Leu) NC_000012.12:6944615:G:C Identity +NM_001164507.2:c.13420C>T NP_001157979.2:p.Arg4474Ter NC_000002.12:151601956:G:A p.(Arg4474Ter) NC_000002.12:151601956:G:A p.(Arg4474Ter) NC_000002.12:151601956:G:A Identity +NM_001256850.1:c.68869G>T NP_001243779.1:p.Glu22957Ter NC_000002.12:178572339:C:A p.(Glu22957Ter) NC_000002.12:178572339:C:A p.(Glu22957Ter) NC_000002.12:178572339:C:A Identity +NM_001353765.2:c.1486G>A NP_001340694.1:p.Ala496Thr NC_000002.12:29193396:C:T p.(Ala496Thr) NC_000002.12:29193396:C:T p.(Ala496Thr) NC_000002.12:29193396:C:T Identity +NM_000314.8:c.1091C>G NP_000305.3:p.Ser364Cys NC_000010.11:87965350:C:G p.(Ser364Cys) NC_000010.11:87965350:C:G p.(Ser364Cys) NC_000010.11:87965350:C:G Identity +NM_000179.3:c.3434G>A NP_000170.1:p.Arg1145Lys NC_000002.12:47803680:G:A p.(Arg1145Lys) NC_000002.12:47803680:G:A p.(Arg1145Lys) NC_000002.12:47803680:G:A Identity +NM_001346599.2:c.658G>A NP_001333528.1:p.Ala220Thr NC_000007.14:105548605:G:A p.(Ala220Thr) NC_000007.14:105548605:G:A p.(Ala220Thr) NC_000007.14:105548605:G:A Identity +NM_001278172.3:c.19A>C NP_001265101.1:p.Arg7= NC_000001.11:161314423:A:C p.(Arg7=) NC_000001.11:161314423:A:C p.(Arg7=) NC_000001.11:161314423:A:C Identity +NM_001271999.2:c.3057G>T NP_001258928.1:p.Met1019Ile NC_000001.11:62539880:C:A p.(Met1019Ile) NC_000001.11:62539880:C:A p.(Met1019Ile) NC_000001.11:62539880:C:A Identity +NM_000388.4:c.2559C>G NP_000379.3:p.Phe853Leu NC_000003.12:122284512:C:G p.(Phe853Leu) NC_000003.12:122284512:C:G p.(Phe853Leu) NC_000003.12:122284512:C:G Identity +NM_001346897.2:c.2728G>A NP_001333826.1:p.Ala910Thr NC_000007.14:55200329:G:A p.(Ala910Thr) NC_000007.14:55200329:G:A p.(Ala910Thr) NC_000007.14:55200329:G:A Identity +NM_000179.3:c.524del NP_000170.1:p.Ala175fs NC_000002.12:47795959:C: p.(Ala175GlufsTer9) NC_000002.12:47795959:C: p.(Ala175GlufsTer9) NC_000002.12:47795959:C: Analogous +NM_001290048.2:c.101A>G NP_001276977.1:p.Gln34Arg NC_000011.10:63659143:T:C p.(Gln34Arg) NC_000011.10:63659143:T:C p.(Gln34Arg) NC_000011.10:63659143:T:C Identity +NM_004104.5:c.4159C>T NP_004095.4:p.Arg1387Cys NC_000017.11:82085365:G:A p.(Arg1387Cys) NC_000017.11:82085365:G:A p.(Arg1387Cys) NC_000017.11:82085365:G:A Identity +NM_152383.5:c.2188G>A NP_689596.4:p.Asp730Asn NC_000002.12:232334397:G:A p.(Asp730Asn) NC_000002.12:232334397:G:A p.(Asp730Asn) NC_000002.12:232334397:G:A Identity +NM_001005505.3:c.2216G>A NP_001005505.1:p.Arg739Lys NC_000003.12:50367829:C:T p.(Arg739Lys) NC_000003.12:50367829:C:T p.(Arg739Lys) NC_000003.12:50367829:C:T Identity +NM_133497.4:c.581A>G NP_598004.1:p.Tyr194Cys NC_000009.12:2718319:A:G p.(Tyr194Cys) NC_000009.12:2718319:A:G p.(Tyr194Cys) NC_000009.12:2718319:A:G Identity +NM_001130438.3:c.7376G>A NP_001123910.1:p.Arg2459His NC_000009.12:128633275:G:A p.(Arg2459His) NC_000009.12:128633275:G:A p.(Arg2459His) NC_000009.12:128633275:G:A Identity +NM_000152.5:c.1317G>A NP_000143.2:p.Met439Ile NC_000017.11:80108818:G:A p.(Met439Ile) NC_000017.11:80108818:G:A p.(Met439Ile) NC_000017.11:80108818:G:A Identity +NM_000179.3:c.688del NP_000170.1:p.Glu230fs NC_000002.12:47798669:GG:G p.(Glu230LysfsTer16) NC_000002.12:47798669:GG:G p.(Glu230LysfsTer16) NC_000002.12:47798670:G: Analogous +NM_001127198.5:c.1283T>C NP_001120670.1:p.Leu428Pro NC_000017.11:78121655:A:G p.(Leu428Pro) NC_000017.11:78121655:A:G p.(Leu428Pro) NC_000017.11:78121655:A:G Identity +NM_005188.4:c.265C>T NP_005179.2:p.Pro89Ser NC_000011.10:119232516:C:T p.(Pro89Ser) NC_000011.10:119232516:C:T p.(Pro89Ser) NC_000011.10:119232516:C:T Identity +NM_003384.3:c.560A>G NP_003375.1:p.Tyr187Cys NC_000014.9:96853149:A:G p.(Tyr187Cys) NC_000014.9:96853149:A:G p.(Tyr187Cys) NC_000014.9:96853149:A:G Identity +NM_001065.4:c.997C>T NP_001056.1:p.Pro333Ser NC_000012.12:6329837:G:A p.(Pro333Ser) NC_000012.12:6329837:G:A p.(Pro333Ser) NC_000012.12:6329837:G:A Identity +NM_001164665.2:c.5440G>C NP_001158137.1:p.Gly1814Arg NC_000007.14:138844328:C:G p.(Gly1814Arg) NC_000007.14:138844328:C:G p.(Gly1814Arg) NC_000007.14:138844328:C:G Identity +NM_001195263.2:c.1432G>A NP_001182192.1:p.Gly478Arg NC_000010.11:101018188:C:T p.(Gly478Arg) NC_000010.11:101018188:C:T p.(Gly478Arg) NC_000010.11:101018188:C:T Identity +NM_001364858.1:c.676G>A NP_001351787.1:p.Ala226Thr NC_000007.14:4786260:G:A p.(Ala226Thr) NC_000007.14:4786260:G:A p.(Ala226Thr) NC_000007.14:4786260:G:A Identity +NM_001182.5:c.647T>C NP_001173.2:p.Leu216Pro NC_000005.10:126577081:A:G p.(Leu216Pro) NC_000005.10:126577081:A:G p.(Leu216Pro) NC_000005.10:126577081:A:G Identity +NM_004369.4:c.5544C>A NP_004360.2:p.Asp1848Glu NC_000002.12:237365991:G:T p.(Asp1848Glu) NC_000002.12:237365991:G:T p.(Asp1848Glu) NC_000002.12:237365991:G:T Identity +NM_148919.4:c.137G>A NP_683720.2:p.Arg46Gln NC_000006.12:32843859:C:T p.(Arg46Gln) NC_000006.12:32843859:C:T p.(Arg46Gln) NC_000006.12:32843859:C:T Identity +NM_000462.5:c.1076G>A NP_000453.2:p.Arg359Gln NC_000015.10:25371106:C:T p.(Arg359Gln) NC_000015.10:25371106:C:T p.(Arg359Gln) NC_000015.10:25371106:C:T Identity +NM_201550.4:c.809_812del NP_963844.2:p.Pro270fs NC_000012.12:69610026:AGAG: p.(Pro270HisfsTer60) NC_000012.12:69610026:AGAG: p.(Pro270HisfsTer60) NC_000012.12:69610026:AGAG: Analogous +NM_000744.7:c.1574A>G NP_000735.1:p.Gln525Arg NC_000020.11:63349836:T:C p.(Gln525Arg) NC_000020.11:63349836:T:C p.(Gln525Arg) NC_000020.11:63349836:T:C Identity +NM_001258384.3:c.539G>A NP_001245313.1:p.Arg180Lys NC_000020.11:2660582:C:T p.(Arg180Lys) NC_000020.11:2660582:C:T p.(Arg180Lys) NC_000020.11:2660582:C:T Identity +NM_001256267.2:c.3433A>C NP_001243196.1:p.Lys1145Gln NC_000010.11:68199514:A:C p.(Lys1145Gln) NC_000010.11:68199514:A:C p.(Lys1145Gln) NC_000010.11:68199514:A:C Identity +NM_001276504.2:c.322G>A NP_001263433.1:p.Val108Met NC_000011.10:112094928:G:A p.(Val108Met) NC_000011.10:112094928:G:A p.(Val108Met) NC_000011.10:112094928:G:A Identity +NM_005732.4:c.2356A>G NP_005723.2:p.Lys786Glu NC_000005.10:132603447:A:G p.(Lys786Glu) NC_000005.10:132603447:A:G p.(Lys786Glu) NC_000005.10:132603447:A:G Identity +NM_001102564.3:c.29A>G NP_001096034.1:p.Glu10Gly NC_000014.9:75985814:A:G p.(Glu10Gly) NC_000014.9:75985814:A:G p.(Glu10Gly) NC_000014.9:75985814:A:G Identity +NM_006939.4:c.3114A>G NP_008870.2:p.Ile1038Met NC_000014.9:50130723:T:C p.(Ile1038Met) NC_000014.9:50130723:T:C p.(Ile1038Met) NC_000014.9:50130723:T:C Identity +NM_001308133.2:c.4135T>G NP_001295062.1:p.Ser1379Ala NC_000014.9:45176966:T:G p.(Ser1379Ala) NC_000014.9:45176966:T:G p.(Ser1379Ala) NC_000014.9:45176966:T:G Identity +NM_001277961.3:c.1447G>A NP_001264890.1:p.Glu483Lys NC_000011.10:4083470:G:A p.(Glu483Lys) NC_000011.10:4083470:G:A p.(Glu483Lys) NC_000011.10:4083470:G:A Identity +NM_001142800.2:c.455T>C NP_001136272.1:p.Met152Thr NC_000006.12:65494955:A:G p.(Met152Thr) NC_000006.12:65494955:A:G p.(Met152Thr) NC_000006.12:65494955:A:G Identity +NM_001122955.4:c.1097C>G NP_001116427.1:p.Thr366Ser NC_000011.10:62690842:G:C p.(Thr366Ser) NC_000011.10:62690842:G:C p.(Thr366Ser) NC_000011.10:62690842:G:C Identity +NM_001164507.2:c.18096G>A NP_001157979.2:p.Met6032Ile NC_000002.12:151567227:C:T p.(Met6032Ile) NC_000002.12:151567227:C:T p.(Met6032Ile) NC_000002.12:151567227:C:T Identity +NM_001013406.2:c.695del NP_001013424.1:p.Pro232fs NC_000007.14:92235436:GGG:GG p.(Pro232LeufsTer13) NC_000007.14:92235436:GGG:GG p.(Pro232LeufsTer13) NC_000007.14:92235436:G: Analogous +NM_000069.3:c.5480T>A NP_000060.2:p.Ile1827Asn NC_000001.11:201039972:A:T p.(Ile1827Asn) NC_000001.11:201039972:A:T p.(Ile1827Asn) NC_000001.11:201039972:A:T Identity +NM_001308258.2:c.890C>A NP_001295187.1:p.Ser297Ter NC_000003.12:149153632:C:A p.(Ser297Ter) NC_000003.12:149153632:C:A p.(Ser297Ter) NC_000003.12:149153632:C:A Identity +NM_001352773.2:c.545C>A NP_001339702.1:p.Ser182Ter NC_000017.11:41769130:G:T p.(Ser182Ter) NC_000017.11:41769130:G:T p.(Ser182Ter) NC_000017.11:41769130:G:T Identity +NM_001145527.2:c.2338G>A NP_001138999.1:p.Ala780Thr NC_000009.12:137782352:G:A p.(Ala780Thr) NC_000009.12:137782352:G:A p.(Ala780Thr) NC_000009.12:137782352:G:A Identity +NM_001114094.2:c.857C>A NP_001107566.1:p.Pro286His NC_000010.11:96204064:G:T p.(Pro286His) NC_000010.11:96204064:G:T p.(Pro286His) NC_000010.11:96204064:G:T Identity +NM_001130981.2:c.3753T>A NP_001124453.1:p.Tyr1251Ter NC_000002.12:71598744:T:A p.(Tyr1251Ter) NC_000002.12:71598744:T:A p.(Tyr1251Ter) NC_000002.12:71598744:T:A Identity +NM_000350.3:c.4136T>C NP_000341.2:p.Leu1379Pro NC_000001.11:94031112:A:G p.(Leu1379Pro) NC_000001.11:94031112:A:G p.(Leu1379Pro) NC_000001.11:94031112:A:G Identity +NM_001174150.2:c.938A>C NP_001167621.1:p.Glu313Ala NC_000003.12:94043153:A:C p.(Glu313Ala) NC_000003.12:94043153:A:C p.(Glu313Ala) NC_000003.12:94043153:A:C Identity +NM_153240.5:c.146C>T NP_694972.3:p.Ala49Val NC_000003.12:132722209:G:A p.(Ala49Val) NC_000003.12:132722209:G:A p.(Ala49Val) NC_000003.12:132722209:G:A Identity +NM_001195263.2:c.2786A>G NP_001182192.1:p.Asp929Gly NC_000010.11:101008782:T:C p.(Asp929Gly) NC_000010.11:101008782:T:C p.(Asp929Gly) NC_000010.11:101008782:T:C Identity +NM_001008537.3:c.875A>G NP_001008537.1:p.Asp292Gly NC_000023.11:74743681:T:C p.(Asp292Gly) NC_000023.11:74743681:T:C p.(Asp292Gly) NC_000023.11:74743681:T:C Identity +NM_001164617.2:c.1382G>A NP_001158089.1:p.Arg461Lys NC_000023.11:133661829:C:T p.(Arg461Lys) NC_000023.11:133661829:C:T p.(Arg461Lys) NC_000023.11:133661829:C:T Identity +NM_000094.4:c.6528del NP_000085.1:p.Gly2177fs NC_000003.12:48573863:A: p.(Gly2177AlafsTer29) NC_000003.12:48573863:A: p.(Gly2177AlafsTer29) NC_000003.12:48573863:A: Analogous +NM_001244644.2:c.145A>G NP_001231573.1:p.Lys49Glu NC_000003.12:87245854:A:G p.(Lys49Glu) NC_000003.12:87245854:A:G p.(Lys49Glu) NC_000003.12:87245854:A:G Identity +NM_001160227.2:c.1570G>A NP_001153699.1:p.Gly524Arg NC_000015.10:44648897:C:T p.(Gly524Arg) NC_000015.10:44648897:C:T p.(Gly524Arg) NC_000015.10:44648897:C:T Identity +NM_015180.6:c.3696TCT[1] NP_055995.4:p.Leu1234del NC_000014.9:64001988:CTTCTTCT:CTTCT p.(Leu1234del) NC_000014.9:64001990:T:TCT ERR:Parse ERR:Parse Identity +NM_001291593.2:c.1327G>A NP_001278522.1:p.Ala443Thr NC_000001.11:5875051:C:T p.(Ala443Thr) NC_000001.11:5875051:C:T p.(Ala443Thr) NC_000001.11:5875051:C:T Identity +NM_001127713.1:c.1355T>C NP_001121185.1:p.Phe452Ser NC_000014.9:50628265:T:C p.(Phe452Ser) NC_000014.9:50628265:T:C p.(Phe452Ser) NC_000014.9:50628265:T:C Identity +NM_001318360.2:c.3485T>C NP_001305289.1:p.Leu1162Pro NC_000009.12:108878022:A:G p.(Leu1162Pro) NC_000009.12:108878022:A:G p.(Leu1162Pro) NC_000009.12:108878022:A:G Identity +NM_003924.4:c.925G>A NP_003915.2:p.Val309Met NC_000004.12:41745826:C:T p.(Val309Met) NC_000004.12:41745826:C:T p.(Val309Met) NC_000004.12:41745826:C:T Identity +NM_001313726.2:c.999C>G NP_001300655.1:p.Asp333Glu NC_000011.10:26531282:C:G p.(Asp333Glu) NC_000011.10:26531282:C:G p.(Asp333Glu) NC_000011.10:26531282:C:G Identity +NM_004369.4:c.8863C>T NP_004360.2:p.Pro2955Ser NC_000002.12:237336236:G:A p.(Pro2955Ser) NC_000002.12:237336236:G:A p.(Pro2955Ser) NC_000002.12:237336236:G:A Identity +NM_001256534.2:c.954C>G NP_001243463.1:p.Asp318Glu NC_000022.11:19176132:G:C p.(Asp318Glu) NC_000022.11:19176132:G:C p.(Asp318Glu) NC_000022.11:19176132:G:C Identity +NM_002439.5:c.11G>A NP_002430.3:p.Arg4Gln NC_000005.10:80654737:G:A p.(Arg4Gln) NC_000005.10:80654737:G:A p.(Arg4Gln) NC_000005.10:80654737:G:A Identity +NM_005027.4:c.107C>T NP_005018.2:p.Ala36Val NC_000019.10:18155985:C:T p.(Ala36Val) NC_000019.10:18155985:C:T p.(Ala36Val) NC_000019.10:18155985:C:T Identity +NM_001243925.2:c.203A>G NP_001230854.1:p.Gln68Arg NC_000003.12:50617767:A:G p.(Gln68Arg) NC_000003.12:50617767:A:G p.(Gln68Arg) NC_000003.12:50617767:A:G Identity +NM_001363823.2:c.1782C>G NP_001350752.1:p.Ser594Arg NC_000002.12:32154429:C:G p.(Ser594Arg) NC_000002.12:32154429:C:G p.(Ser594Arg) NC_000002.12:32154429:C:G Identity +NM_001083885.3:c.754C>T NP_001077354.2:p.Pro252Ser NC_000009.12:114406687:G:A p.(Pro252Ser) NC_000009.12:114406687:G:A p.(Pro252Ser) NC_000009.12:114406687:G:A Identity +NM_005359.6:c.1196T>A NP_005350.1:p.Val399Asp NC_000018.10:51067074:T:A p.(Val399Asp) NC_000018.10:51067074:T:A p.(Val399Asp) NC_000018.10:51067074:T:A Identity +NM_001258040.3:c.677G>T NP_001244969.1:p.Arg226Leu NC_000005.10:140677352:C:A p.(Arg226Leu) NC_000005.10:140677352:C:A p.(Arg226Leu) NC_000005.10:140677352:C:A Identity +NM_001036.6:c.5407G>A NP_001027.3:p.Val1803Ile NC_000015.10:33662936:G:A p.(Val1803Ile) NC_000015.10:33662936:G:A p.(Val1803Ile) NC_000015.10:33662936:G:A Identity +NM_001370528.1:c.649A>G NP_001357457.1:p.Met217Val NC_000003.12:64153319:T:C p.(Met217Val) NC_000003.12:64153319:T:C p.(Met217Val) NC_000003.12:64153319:T:C Identity +NM_172364.5:c.700T>C NP_758952.4:p.Phe234Leu NC_000012.12:1907520:A:G p.(Phe234Leu) NC_000012.12:1907520:A:G p.(Phe234Leu) NC_000012.12:1907520:A:G Identity +NM_017617.5:c.3040A>T NP_060087.3:p.Thr1014Ser NC_000009.12:136509000:T:A p.(Thr1014Ser) NC_000009.12:136509000:T:A p.(Thr1014Ser) NC_000009.12:136509000:T:A Identity +NM_002439.5:c.1417dup NP_002430.3:p.Thr473fs NC_000005.10:80725528:A:AA p.(Thr473AsnfsTer10) NC_000005.10:80725528:A:AA p.(Thr473AsnfsTer10) ERR:SPDI Analogous +NM_001127487.2:c.6275C>G NP_001120959.1:p.Thr2092Ser NC_000007.14:128853726:C:G p.(Thr2092Ser) NC_000007.14:128853726:C:G p.(Thr2092Ser) NC_000007.14:128853726:C:G Identity +NM_001256849.1:c.2182A>C NP_001243778.1:p.Ile728Leu NC_000019.10:50413452:A:C p.(Ile728Leu) NC_000019.10:50413452:A:C p.(Ile728Leu) NC_000019.10:50413452:A:C Identity +NM_001195794.1:c.92C>G NP_001182723.1:p.Pro31Arg NC_000003.12:150972616:G:C p.(Pro31Arg) NC_000003.12:150972616:G:C p.(Pro31Arg) NC_000003.12:150972616:G:C Identity +NM_001353229.2:c.1549G>A NP_001340158.1:p.Val517Met NC_000017.11:17215027:C:T p.(Val517Met) NC_000017.11:17215027:C:T p.(Val517Met) NC_000017.11:17215027:C:T Identity +NM_006493.4:c.965_968del NP_006484.2:p.Tyr322fs NC_000013.11:77000855:TATTT:T p.(Tyr322CysfsTer12) NC_000013.11:77000855:TATTT:T p.(Tyr322CysfsTer12) NC_000013.11:77000856:ATTT: Analogous +NM_001178133.2:c.673A>T NP_001171604.1:p.Thr225Ser NC_000010.11:102593710:A:T p.(Thr225Ser) NC_000010.11:102593710:A:T p.(Thr225Ser) NC_000010.11:102593710:A:T Identity +NM_130468.4:c.743G>C NP_569735.1:p.Gly248Ala NC_000015.10:40471955:G:C p.(Gly248Ala) NC_000015.10:40471955:G:C p.(Gly248Ala) NC_000015.10:40471955:G:C Identity +NM_006397.3:c.427G>A NP_006388.2:p.Val143Ile NC_000019.10:12810085:G:A p.(Val143Ile) NC_000019.10:12810085:G:A p.(Val143Ile) NC_000019.10:12810085:G:A Identity +NM_001163022.3:c.10G>A NP_001156494.1:p.Glu4Lys NC_000020.11:21145567:G:A p.(Glu4Lys) NC_000020.11:21145567:G:A p.(Glu4Lys) NC_000020.11:21145567:G:A Identity +NM_012463.4:c.2554G>A NP_036595.2:p.Asp852Asn NC_000012.12:123758014:G:A p.(Asp852Asn) NC_000012.12:123758014:G:A p.(Asp852Asn) NC_000012.12:123758014:G:A Identity +NM_001164507.2:c.20360C>T NP_001157979.2:p.Thr6787Ile NC_000002.12:151547435:G:A p.(Thr6787Ile) NC_000002.12:151547435:G:A p.(Thr6787Ile) NC_000002.12:151547435:G:A Identity +NM_001135242.2:c.201G>A NP_001128714.1:p.Met67Ile NC_000008.11:133264550:C:T p.(Met67Ile) NC_000008.11:133264550:C:T p.(Met67Ile) NC_000008.11:133264550:C:T Identity +NM_001318381.2:c.145C>A NP_001305310.1:p.Gln49Lys NC_000009.12:100226220:C:A p.(Gln49Lys) NC_000009.12:100226220:C:A p.(Gln49Lys) NC_000009.12:100226220:C:A Identity +NM_020451.3:c.276C>A NP_065184.2:p.Phe92Leu NC_000001.11:25801134:C:A p.(Phe92Leu) NC_000001.11:25801134:C:A p.? NC_000001.11:25801134:C:A Identity +NM_001303249.3:c.634G>T NP_001290178.1:p.Val212Leu NC_000005.10:110756714:G:T p.(Val212Leu) NC_000005.10:110756714:G:T p.(Val212Leu) NC_000005.10:110756714:G:T Identity +NM_004975.4:c.1015G>C NP_004966.1:p.Ala339Pro NC_000020.11:49374544:C:G p.(Ala339Pro) NC_000020.11:49374544:C:G p.(Ala339Pro) NC_000020.11:49374544:C:G Identity +NM_017890.5:c.4633C>T NP_060360.3:p.Pro1545Ser NC_000008.11:99511436:C:T p.(Pro1545Ser) NC_000008.11:99511436:C:T p.(Pro1545Ser) NC_000008.11:99511436:C:T Identity +NM_001164507.2:c.21198_21199del NP_001157979.2:p.Tyr7067fs NC_000002.12:151537139:AGAGAG:AGAG p.(Tyr7067GlnfsTer4) NC_000002.12:151537139:AGAGAG:AGAG p.(Tyr7067GlnfsTer4) NC_000002.12:151537139:AG: Analogous +NM_000256.3:c.2113A>G NP_000247.2:p.Thr705Ala NC_000011.10:47339358:T:C p.(Thr705Ala) NC_000011.10:47339358:T:C p.(Thr705Ala) NC_000011.10:47339358:T:C Identity +NM_001165963.4:c.1133T>C NP_001159435.1:p.Leu378Pro NC_000002.12:166047663:A:G p.(Leu378Pro) NC_000002.12:166047663:A:G p.(Leu378Pro) NC_000002.12:166047663:A:G Identity +NM_001042594.2:c.1018_1021delinsTTTTT NP_001036059.1:p.Asn340fs NC_000007.14:124835369:TATT:AAAAA p.(Asn340PhefsTer34) NC_000007.14:124835369:TATT:AAAAA p.(Asn340PhefsTer34) NC_000007.14:124835369:TATT:AAAAA Analogous +NM_000257.4:c.3251A>T NP_000248.2:p.Asp1084Val NC_000014.9:23421042:T:A p.(Asp1084Val) NC_000014.9:23421042:T:A p.(Asp1084Val) NC_000014.9:23421042:T:A Identity +NM_001014794.3:c.428C>T NP_001014794.1:p.Pro143Leu NC_000011.10:6608769:C:T p.(Pro143Leu) NC_000011.10:6608769:C:T p.(Pro143Leu) NC_000011.10:6608769:C:T Identity +NM_001384880.1:c.1106T>G NP_001371809.1:p.Val369Gly NC_000002.12:190986908:A:C p.(Val369Gly) NC_000002.12:190986908:A:C p.(Val369Gly) NC_000002.12:190986908:A:C Identity +NM_000017.4:c.514dup NP_000008.1:p.Ala172fs NC_000012.12:120737875:GGG:GGGG p.(Ala172GlyfsTer73) NC_000012.12:120737875:GGG:GGGG p.(Ala172GlyfsTer73) ERR:SPDI Analogous +NM_000057.4:c.3481A>G NP_000048.1:p.Ile1161Val NC_000015.10:90803642:A:G p.(Ile1161Val) NC_000015.10:90803642:A:G p.(Ile1161Val) NC_000015.10:90803642:A:G Identity +NM_001363671.2:c.1360G>A NP_001350600.1:p.Asp454Asn NC_000007.14:100106858:G:A p.(Asp454Asn) NC_000007.14:100106858:G:A p.(Asp454Asn) NC_000007.14:100106858:G:A Identity +NM_000426.4:c.4310A>T NP_000417.3:p.Gln1437Leu NC_000006.12:129328410:A:T p.(Gln1437Leu) NC_000006.12:129328410:A:T p.(Gln1437Leu) NC_000006.12:129328410:A:T Identity +NM_001848.3:c.1570T>C NP_001839.2:p.Phe524Leu NC_000021.9:45998165:T:C p.(Phe524Leu) NC_000021.9:45998165:T:C p.(Phe524Leu) NC_000021.9:45998165:T:C Identity +NM_001100112.2:c.4691T>C NP_001093582.1:p.Ile1564Thr NC_000017.11:10525036:A:G p.(Ile1564Thr) NC_000017.11:10525036:A:G p.(Ile1564Thr) NC_000017.11:10525036:A:G Identity +NM_024589.3:c.392A>C NP_078865.1:p.Asp131Ala NC_000016.10:4799725:T:G p.(Asp131Ala) NC_000016.10:4799725:T:G p.(Asp131Ala) NC_000016.10:4799725:T:G Identity +NM_000218.3:c.919G>T NP_000209.2:p.Val307Leu NC_000011.10:2572983:G:T p.(Val307Leu) NC_000011.10:2572983:G:T p.(Val307Leu) NC_000011.10:2572983:G:T Identity +NM_000059.4:c.3688T>C NP_000050.3:p.Ser1230Pro NC_000013.11:32338042:T:C p.(Ser1230Pro) NC_000013.11:32338042:T:C p.(Ser1230Pro) NC_000013.11:32338042:T:C Identity +NM_000465.4:c.572T>C NP_000456.2:p.Val191Ala NC_000002.12:214781301:A:G p.(Val191Ala) NC_000002.12:214781301:A:G p.(Val191Ala) NC_000002.12:214781301:A:G Identity +NM_001005373.4:c.1815del NP_001005373.1:p.Asp607fs NC_000009.12:127496079:A: p.(Asp607ThrfsTer33) NC_000009.12:127496079:A: p.(Asp607ThrfsTer33) NC_000009.12:127496079:A: Analogous +NM_004990.4:c.986C>A NP_004981.2:p.Pro329His NC_000012.12:57498517:C:A p.(Pro329His) NC_000012.12:57498517:C:A p.(Pro329His) NC_000012.12:57498517:C:A Identity +NM_000057.4:c.796A>G NP_000048.1:p.Arg266Gly NC_000015.10:90750063:A:G p.(Arg266Gly) NC_000015.10:90750063:A:G p.(Arg266Gly) NC_000015.10:90750063:A:G Identity +NM_001098.3:c.950A>G NP_001089.1:p.Asn317Ser NC_000022.11:41518489:A:G p.(Asn317Ser) NC_000022.11:41518489:A:G p.(Asn317Ser) NC_000022.11:41518489:A:G Identity +NM_000832.7:c.421G>A NP_000823.4:p.Val141Met NC_000009.12:137145752:G:A p.(Val141Met) NC_000009.12:137145752:G:A p.(Val141Met) NC_000009.12:137145752:G:A Identity +NM_001079878.2:c.340G>T NP_001073347.1:p.Glu114Ter NC_000002.12:98380298:G:T p.(Glu114Ter) NC_000002.12:98380298:G:T p.(Glu114Ter) NC_000002.12:98380298:G:T Identity +NM_000378.6:c.50C>T NP_000369.4:p.Pro17Leu NC_000011.10:32435310:G:A p.(Pro17Leu) NC_000011.10:32435310:G:A p.(Pro17Leu) NC_000011.10:32435310:G:A Identity +NM_001308093.3:c.747C>A NP_001295022.1:p.Asn249Lys NC_000008.11:11749045:C:A p.(Asn249Lys) NC_000008.11:11749045:C:A p.(Asn249Lys) NC_000008.11:11749045:C:A Identity +NM_001042692.3:c.1474A>C NP_001036157.1:p.Asn492His NC_000002.12:63174796:T:G p.(Asn492His) NC_000002.12:63174796:T:G p.(Asn492His) NC_000002.12:63174796:T:G Identity +NM_002661.5:c.3149C>T NP_002652.2:p.Pro1050Leu NC_000016.10:81937853:C:T p.(Pro1050Leu) NC_000016.10:81937853:C:T p.(Pro1050Leu) NC_000016.10:81937853:C:T Identity +NM_000051.4:c.3241A>G NP_000042.3:p.Asn1081Asp NC_000011.10:108272808:A:G p.(Asn1081Asp) NC_000011.10:108272808:A:G p.(Asn1081Asp) NC_000011.10:108272808:A:G Identity +NM_001318381.2:c.385_386del NP_001305310.1:p.Leu129fs NC_000009.12:100240114:CTCT:CT p.(Leu129SerfsTer6) NC_000009.12:100240114:CTCT:CT p.(Leu129SerfsTer6) NC_000009.12:100240116:CT: Analogous +NM_032444.4:c.3492A>C NP_115820.2:p.Glu1164Asp NC_000016.10:3590145:T:G p.(Glu1164Asp) NC_000016.10:3590145:T:G p.(Glu1164Asp) NC_000016.10:3590145:T:G Identity +NM_001164507.2:c.12648C>G NP_001157979.2:p.Tyr4216Ter NC_000002.12:151606704:G:C p.(Tyr4216Ter) NC_000002.12:151606704:G:C p.(Tyr4216Ter) NC_000002.12:151606704:G:C Identity +NM_001127461.3:c.1643G>A NP_001120933.2:p.Arg548His NC_000001.11:247425091:G:A p.(Arg548His) NC_000001.11:247425091:G:A p.(Arg548His) NC_000001.11:247425091:G:A Identity +NM_000350.3:c.4223G>A NP_000341.2:p.Trp1408Ter NC_000001.11:94031025:C:T p.(Trp1408Ter) NC_000001.11:94031025:C:T p.(Trp1408Ter) NC_000001.11:94031025:C:T Identity +NM_022168.4:c.2392A>G NP_071451.2:p.Ile798Val NC_000002.12:162273856:T:C p.(Ile798Val) NC_000002.12:162273856:T:C p.(Ile798Val) NC_000002.12:162273856:T:C Identity +NM_001128844.3:c.365C>A NP_001122316.1:p.Ser122Ter NC_000019.10:10986197:C:A p.(Ser122Ter) NC_000019.10:10986197:C:A p.(Ser122Ter) NC_000019.10:10986197:C:A Identity +NM_004104.5:c.5927G>A NP_004095.4:p.Arg1976Lys NC_000017.11:82082406:C:T p.(Arg1976Lys) NC_000017.11:82082406:C:T p.(Arg1976Lys) NC_000017.11:82082406:C:T Identity +NM_000038.6:c.3725A>T NP_000029.2:p.Gln1242Leu NC_000005.10:112839318:A:T p.(Gln1242Leu) NC_000005.10:112839318:A:T p.(Gln1242Leu) NC_000005.10:112839318:A:T Identity +NM_001082575.3:c.646A>G NP_001076044.1:p.Thr216Ala NC_000017.11:79097400:T:C p.(Thr216Ala) NC_000017.11:79097400:T:C p.(Thr216Ala) NC_000017.11:79097400:T:C Identity +NM_001282225.2:c.1397_1403del NP_001269154.1:p.Lys466fs NC_000022.11:17181858:TCAGCCTTCA:TCA p.(Lys466ThrfsTer2) NC_000022.11:17181858:TCAGCCTTCA:TCA p.(Lys466ThrfsTer2) NC_000022.11:17181858:TCAGCCT: Analogous +NM_001276503.2:c.91A>G NP_001263432.1:p.Ile31Val NC_000011.10:112087894:A:G p.(Ile31Val) NC_000011.10:112087894:A:G p.(Ile31Val) NC_000011.10:112087894:A:G Identity +NM_000390.4:c.126C>G NP_000381.1:p.Tyr42Ter NC_000023.11:85981799:G:C p.(Tyr42Ter) NC_000023.11:85981799:G:C p.(Tyr42Ter) NC_000023.11:85981799:G:C Identity +NM_025114.4:c.4088G>A NP_079390.3:p.Arg1363Gln NC_000012.12:88087885:C:T p.(Arg1363Gln) NC_000012.12:88087885:C:T p.(Arg1363Gln) NC_000012.12:88087885:C:T Identity +NM_001082486.2:c.1063C>T NP_001075955.2:p.Pro355Ser NC_000016.10:67658128:G:A p.(Pro355Ser) NC_000016.10:67658128:G:A p.(Pro355Ser) NC_000016.10:67658128:G:A Identity +NM_000138.5:c.52G>C NP_000129.3:p.Ala18Pro NC_000015.10:48644717:C:G p.(Ala18Pro) NC_000015.10:48644717:C:G p.(Ala18Pro) NC_000015.10:48644717:C:G Identity +NM_000399.5:c.428C>A NP_000390.2:p.Pro143Gln NC_000010.11:62814209:G:T p.(Pro143Gln) NC_000010.11:62814209:G:T p.(Pro143Gln) NC_000010.11:62814209:G:T Identity +NM_001164507.2:c.7892G>A NP_001157979.2:p.Trp2631Ter NC_000002.12:151643881:C:T p.(Trp2631Ter) NC_000002.12:151643881:C:T p.(Trp2631Ter) NC_000002.12:151643881:C:T Identity +NM_021072.4:c.477C>G NP_066550.2:p.Ile159Met NC_000005.10:45645556:G:C p.(Ile159Met) NC_000005.10:45645556:G:C p.(Ile159Met) NC_000005.10:45645556:G:C Identity +NM_000322.5:c.237dup NP_000313.2:p.Lys80fs NC_000006.12:42722097:CCC:CCCC p.(Lys80GlufsTer97) NC_000006.12:42722097:CCC:CCCC p.(Lys80GlufsTer97) ERR:SPDI Analogous +NM_001362949.2:c.569T>A NP_001349878.1:p.Met190Lys NC_000022.11:33604480:A:T p.(Met190Lys) NC_000022.11:33604480:A:T p.(Met190Lys) NC_000022.11:33604480:A:T Identity +NM_004656.4:c.2110G>T NP_004647.1:p.Val704Phe NC_000003.12:52402367:C:A p.(Val704Phe) NC_000003.12:52402367:C:A p.(Val704Phe) NC_000003.12:52402367:C:A Identity +NM_032806.6:c.538C>T NP_116195.2:p.Arg180Trp NC_000003.12:43080893:G:A p.(Arg180Trp) NC_000003.12:43080893:G:A p.(Arg180Trp) NC_000003.12:43080893:G:A Identity +NM_001164507.2:c.18948T>A NP_001157979.2:p.Asp6316Glu NC_000002.12:151562157:A:T p.(Asp6316Glu) NC_000002.12:151562157:A:T p.(Asp6316Glu) NC_000002.12:151562157:A:T Identity +NM_001040113.2:c.882G>A NP_001035202.1:p.Met294Ile NC_000016.10:15776105:C:T p.(Met294Ile) NC_000016.10:15776105:C:T p.(Met294Ile) NC_000016.10:15776105:C:T Identity +NM_000245.4:c.2284G>A NP_000236.2:p.Gly762Ser NC_000007.14:116759409:G:A p.(Gly762Ser) NC_000007.14:116759409:G:A p.(Gly762Ser) NC_000007.14:116759409:G:A Identity +NM_006397.3:c.839G>A NP_006388.2:p.Arg280His NC_000019.10:12813404:G:A p.(Arg280His) NC_000019.10:12813404:G:A p.(Arg280His) NC_000019.10:12813404:G:A Identity +NM_001354723.2:c.373del NP_001341652.1:p.Val125fs NC_000003.12:10142794:G: p.(Val125SerfsTer14) NC_000003.12:10142794:G: p.(Val125SerfsTer14) NC_000003.12:10142794:G: Analogous +NM_004260.4:c.1024T>C NP_004251.4:p.Phe342Leu NC_000008.11:144516094:A:G p.(Phe342Leu) NC_000008.11:144516094:A:G p.(Phe342Leu) NC_000008.11:144516094:A:G Identity +NM_133497.4:c.451T>C NP_598004.1:p.Phe151Leu NC_000009.12:2718189:T:C p.(Phe151Leu) NC_000009.12:2718189:T:C p.(Phe151Leu) NC_000009.12:2718189:T:C Identity +NM_001278055.2:c.157A>G NP_001264984.1:p.Ile53Val NC_000013.11:23358340:T:C p.(Ile53Val) NC_000013.11:23358340:T:C p.(Ile53Val) NC_000013.11:23358340:T:C Identity +NM_001378454.1:c.5867C>A NP_001365383.1:p.Pro1956Gln NC_000002.12:73452393:C:A p.(Pro1956Gln) NC_000002.12:73452393:C:A p.(Pro1956Gln) NC_000002.12:73452393:C:A Identity +NM_001008844.3:c.5792T>C NP_001008844.1:p.Ile1931Thr NC_000006.12:7584850:T:C p.(Ile1931Thr) NC_000006.12:7584850:T:C p.(Ile1931Thr) NC_000006.12:7584850:T:C Identity +NM_198586.3:c.1091C>A NP_940988.2:p.Ser364Ter NC_000006.12:18121515:G:T p.(Ser364Ter) NC_000006.12:18121515:G:T p.(Ser364Ter) NC_000006.12:18121515:G:T Identity +NM_001136536.5:c.1461del NP_001130008.2:p.Lys487fs NC_000004.12:36316474:AAA:AA p.(Lys487AsnfsTer8) NC_000004.12:36316474:AAA:AA p.(Lys487AsnfsTer8) NC_000004.12:36316476:A: Analogous +NM_001318194.2:c.86CGG[1] NP_001305123.1:p.Ala30del NC_000016.10:2044733:CCGCCG:CCG p.(Ala30del) NC_000016.10:2044738:G:CCG ERR:Parse ERR:Parse Identity +NM_001407875.1:c.2395C>G NP_001394804.1:p.Gln799Glu NC_000017.11:43092931:G:C p.(Gln799Glu) NC_000017.11:43092931:G:C p.(Gln799Glu) NC_000017.11:43092931:G:C Identity +NM_001142800.2:c.7591A>G NP_001136272.1:p.Lys2531Glu NC_000006.12:63788236:T:C p.(Lys2531Glu) NC_000006.12:63788236:T:C p.(Lys2531Glu) NC_000006.12:63788236:T:C Identity +NM_000401.3:c.1304C>A NP_000392.3:p.Ser435Ter NC_000011.10:44171641:C:A p.(Ser435Ter) NC_000011.10:44171641:C:A p.(Ser435Ter) NC_000011.10:44171641:C:A Identity +NM_000137.4:c.221del NP_000128.1:p.Gly74fs NC_000015.10:80159781:GGG:GG p.(Gly74ValfsTer18) NC_000015.10:80159781:GGG:GG p.(Gly74ValfsTer18) NC_000015.10:80159783:G: Analogous +NM_001364858.1:c.1780C>T NP_001351787.1:p.Arg594Trp NC_000007.14:4791208:C:T p.(Arg594Trp) NC_000007.14:4791208:C:T p.(Arg594Trp) NC_000007.14:4791208:C:T Identity +NM_000816.3:c.890A>G NP_000807.2:p.Asn297Ser NC_000005.10:162142283:A:G p.(Asn297Ser) NC_000005.10:162142283:A:G p.(Asn297Ser) NC_000005.10:162142283:A:G Identity +NM_001365536.1:c.4174G>A NP_001352465.1:p.Val1392Ile NC_000002.12:166228722:C:T p.(Val1392Ile) NC_000002.12:166228722:C:T p.(Val1392Ile) NC_000002.12:166228722:C:T Identity +NM_001289156.2:c.1043T>C NP_001276085.1:p.Ile348Thr NC_000015.10:74897650:T:C p.(Ile348Thr) NC_000015.10:74897650:T:C p.(Ile348Thr) NC_000015.10:74897650:T:C Identity +NM_000053.4:c.2512A>G NP_000044.2:p.Lys838Glu NC_000013.11:51950334:T:C p.(Lys838Glu) NC_000013.11:51950334:T:C p.(Lys838Glu) NC_000013.11:51950334:T:C Identity +NM_001244710.2:c.670A>G NP_001231639.1:p.Ile224Val NC_000002.12:69354503:T:C p.(Ile224Val) NC_000002.12:69354503:T:C p.(Ile224Val) NC_000002.12:69354503:T:C Identity +NM_001135659.3:c.59T>G NP_001129131.1:p.Leu20Arg NC_000002.12:51028214:A:C p.(Leu20Arg) NC_000002.12:51028214:A:C p.(Leu20Arg) NC_000002.12:51028214:A:C Identity +NM_000253.4:c.1564A>G NP_000244.2:p.Lys522Glu NC_000004.12:99608771:A:G p.(Lys522Glu) NC_000004.12:99608771:A:G p.(Lys522Glu) NC_000004.12:99608771:A:G Identity +NM_000028.3:c.595C>T NP_000019.2:p.Gln199Ter NC_000001.11:99864519:C:T p.(Gln199Ter) NC_000001.11:99864519:C:T p.(Gln199Ter) NC_000001.11:99864519:C:T Identity +NM_000232.5:c.2T>C NP_000223.1:p.Met1Thr NC_000004.12:52038257:A:G p.(Met1Thr) NC_000004.12:52038257:A:G p.Met1? NC_000004.12:52038257:A:G Identity +NM_000244.4:c.1423C>G NP_000235.3:p.Pro475Ala NC_000011.10:64804758:G:C p.(Pro475Ala) NC_000011.10:64804758:G:C p.(Pro475Ala) NC_000011.10:64804758:G:C Identity +NM_001099400.2:c.59G>A NP_001092870.1:p.Arg20Gln NC_000007.14:94656039:C:T p.(Arg20Gln) NC_000007.14:94656039:C:T p.(Arg20Gln) NC_000007.14:94656039:C:T Identity +NM_000540.3:c.8516C>G NP_000531.2:p.Thr2839Arg NC_000019.10:38505920:C:G p.(Thr2839Arg) NC_000019.10:38505920:C:G p.(Thr2839Arg) NC_000019.10:38505920:C:G Identity +NM_000135.4:c.2641C>T NP_000126.2:p.Gln881Ter NC_000016.10:89765026:G:A p.(Gln881Ter) NC_000016.10:89765026:G:A p.(Gln881Ter) NC_000016.10:89765026:G:A Identity +NM_000321.3:c.1567_1568dup NP_000312.2:p.Leu523fs NC_000013.11:48381313:TTT:TTTTT p.(Leu523PhefsTer2) NC_000013.11:48381313:TTT:TTTTT p.(Leu523PhefsTer2) ERR:SPDI Analogous +NM_000245.4:c.2417T>C NP_000236.2:p.Leu806Pro NC_000007.14:116763101:T:C p.(Leu806Pro) NC_000007.14:116763101:T:C p.(Leu806Pro) NC_000007.14:116763101:T:C Identity +NM_004946.3:c.2485G>T NP_004937.1:p.Val829Leu NC_000005.10:169761555:G:T p.(Val829Leu) NC_000005.10:169761555:G:T p.(Val829Leu) NC_000005.10:169761555:G:T Identity +NM_017890.5:c.7442T>C NP_060360.3:p.Val2481Ala NC_000008.11:99776893:T:C p.(Val2481Ala) NC_000008.11:99776893:T:C p.(Val2481Ala) NC_000008.11:99776893:T:C Identity +NM_000264.5:c.1897A>G NP_000255.2:p.Thr633Ala NC_000009.12:95469103:T:C p.(Thr633Ala) NC_000009.12:95469103:T:C p.(Thr633Ala) NC_000009.12:95469103:T:C Identity +NM_000268.4:c.1065G>C NP_000259.1:p.Glu355Asp NC_000022.11:29671890:G:C p.(Glu355Asp) NC_000022.11:29671890:G:C p.(Glu355Asp) NC_000022.11:29671890:G:C Identity +NM_000257.4:c.4459G>T NP_000248.2:p.Ala1487Ser NC_000014.9:23417212:C:A p.(Ala1487Ser) NC_000014.9:23417212:C:A p.(Ala1487Ser) NC_000014.9:23417212:C:A Identity +NM_001039348.3:c.1420G>C NP_001034437.1:p.Gly474Arg NC_000002.12:55867134:C:G p.(Gly474Arg) NC_000002.12:55867134:C:G p.(Gly474Arg) NC_000002.12:55867134:C:G Identity +NM_001256850.1:c.1128G>A NP_001243779.1:p.Trp376Ter NC_000002.12:178795038:C:T p.(Trp376Ter) NC_000002.12:178795038:C:T p.(Trp376Ter) NC_000002.12:178795038:C:T Identity +NM_000038.6:c.421A>G NP_000029.2:p.Arg141Gly NC_000005.10:112767388:A:G p.(Arg141Gly) NC_000005.10:112767388:A:G p.(Arg141Gly) NC_000005.10:112767388:A:G Identity +NM_007248.5:c.905C>G NP_009179.2:p.Pro302Arg NC_000003.12:48467589:C:G p.(Pro302Arg) NC_000003.12:48467589:C:G p.(Pro302Arg) NC_000003.12:48467589:C:G Identity +NM_001318193.2:c.232G>A NP_001305122.2:p.Val78Ile NC_000016.10:2046249:C:T p.(Val78Ile) NC_000016.10:2046249:C:T p.(Val78Ile) NC_000016.10:2046249:C:T Identity +NM_001301012.2:c.536A>G NP_001287941.1:p.Gln179Arg NC_000006.12:133462737:A:G p.(Gln179Arg) NC_000006.12:133462737:A:G p.(Gln179Arg) NC_000006.12:133462737:A:G Identity +NM_001386339.1:c.2318C>T NP_001373268.1:p.Ala773Val NC_000011.10:9856502:G:A p.(Ala773Val) NC_000011.10:9856502:G:A p.(Ala773Val) NC_000011.10:9856502:G:A Identity +NM_004260.4:c.3196G>A NP_004251.4:p.Ala1066Thr NC_000008.11:144512183:C:T p.(Ala1066Thr) NC_000008.11:144512183:C:T p.(Ala1066Thr) NC_000008.11:144512183:C:T Identity +NM_000323.2:c.978G>C NP_000314.1:p.Gln326His NC_000010.11:43106485:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000540.3:c.12797G>A NP_000531.2:p.Gly4266Asp NC_000019.10:38565130:G:A p.(Gly4266Asp) NC_000019.10:38565130:G:A p.(Gly4266Asp) NC_000019.10:38565130:G:A Identity +NM_001211.6:c.2658G>T NP_001202.5:p.Arg886Ser NC_000015.10:40213453:G:T p.(Arg886Ser) NC_000015.10:40213453:G:T p.(Arg886Ser) NC_000015.10:40213453:G:T Identity +NM_014244.5:c.295G>A NP_055059.2:p.Gly99Arg NC_000005.10:179344005:C:T p.(Gly99Arg) NC_000005.10:179344005:C:T p.(Gly99Arg) NC_000005.10:179344005:C:T Identity +NM_001318381.2:c.968T>C NP_001305310.1:p.Val323Ala NC_000009.12:100252927:T:C p.(Val323Ala) NC_000009.12:100252927:T:C p.(Val323Ala) NC_000009.12:100252927:T:C Identity +NM_001082486.2:c.767C>T NP_001075955.2:p.Pro256Leu NC_000016.10:67658616:G:A p.(Pro256Leu) NC_000016.10:67658616:G:A p.(Pro256Leu) NC_000016.10:67658616:G:A Identity +NM_153240.5:c.1032T>A NP_694972.3:p.Asp344Glu NC_000003.12:132713211:A:T p.(Asp344Glu) NC_000003.12:132713211:A:T p.(Asp344Glu) NC_000003.12:132713211:A:T Identity +NM_001723.7:c.4303T>G NP_001714.1:p.Ser1435Ala NC_000006.12:56619730:A:C p.(Ser1435Ala) NC_000006.12:56619730:A:C p.(Ser1435Ala) NC_000006.12:56619730:A:C Identity +NM_001145152.2:c.221C>A NP_001138624.1:p.Thr74Asn NC_000008.11:17268352:C:A p.(Thr74Asn) NC_000008.11:17268352:C:A p.(Thr74Asn) NC_000008.11:17268352:C:A Identity +NM_000093.5:c.592A>G NP_000084.3:p.Met198Val NC_000009.12:134701270:A:G p.(Met198Val) NC_000009.12:134701270:A:G p.(Met198Val) NC_000009.12:134701270:A:G Identity +NM_001346897.2:c.1318G>A NP_001333826.1:p.Gly440Ser NC_000007.14:55160292:G:A p.(Gly440Ser) NC_000007.14:55160292:G:A p.(Gly440Ser) NC_000007.14:55160292:G:A Identity +NM_001127660.2:c.690G>C NP_001121132.1:p.Glu230Asp NC_000001.11:11998859:G:C p.(Glu230Asp) NC_000001.11:11998859:G:C p.(Glu230Asp) NC_000001.11:11998859:G:C Identity +NM_001178133.2:c.233G>A NP_001171604.1:p.Gly78Glu NC_000010.11:102509218:G:A p.(Gly78Glu) NC_000010.11:102509218:G:A p.(Gly78Glu) NC_000010.11:102509218:G:A Identity +NM_000143.4:c.880G>A NP_000134.2:p.Ala294Thr NC_000001.11:241506026:C:T p.(Ala294Thr) NC_000001.11:241506026:C:T p.(Ala294Thr) NC_000001.11:241506026:C:T Identity +NM_001195573.1:c.3650A>G NP_001182502.1:p.Tyr1217Cys NC_000014.9:95103745:T:C p.(Tyr1217Cys) NC_000014.9:95103745:T:C p.(Tyr1217Cys) NC_000014.9:95103745:T:C Identity +NM_001184985.2:c.131C>T NP_001171914.1:p.Ala44Val NC_000012.12:753695:C:T p.(Ala44Val) NC_000012.12:753695:C:T p.(Ala44Val) NC_000012.12:753695:C:T Identity +NM_000445.5:c.8690G>A NP_000436.2:p.Arg2897His NC_000008.11:143921211:C:T p.(Arg2897His) NC_000008.11:143921211:C:T p.(Arg2897His) NC_000008.11:143921211:C:T Identity +NM_000350.3:c.2626C>T NP_000341.2:p.Gln876Ter NC_000001.11:94051659:G:A p.(Gln876Ter) NC_000001.11:94051659:G:A p.(Gln876Ter) NC_000001.11:94051659:G:A Identity +NM_001001890.3:c.741A>T NP_001001890.1:p.Gln247His NC_000021.9:34799445:T:A p.(Gln247His) NC_000021.9:34799445:T:A p.(Gln247His) NC_000021.9:34799445:T:A Identity +NM_015192.4:c.2286G>T NP_056007.1:p.Leu762Phe NC_000020.11:8739337:G:T p.(Leu762Phe) NC_000020.11:8739337:G:T p.(Leu762Phe) NC_000020.11:8739337:G:T Identity +NM_000033.4:c.254G>C NP_000024.2:p.Arg85Pro NC_000023.11:153725519:G:C p.(Arg85Pro) NC_000023.11:153725519:G:C p.(Arg85Pro) NC_000023.11:153725519:G:C Identity +NM_000368.5:c.1581G>C NP_000359.1:p.Gln527His NC_000009.12:132905996:C:G p.(Gln527His) NC_000009.12:132905996:C:G p.(Gln527His) NC_000009.12:132905996:C:G Identity +NM_001018115.3:c.2730G>T NP_001018125.1:p.Lys910Asn NC_000003.12:10074543:G:T p.(Lys910Asn) NC_000003.12:10074543:G:T p.(Lys910Asn) NC_000003.12:10074543:G:T Identity +NM_015180.6:c.3829C>T NP_055995.4:p.Arg1277Cys NC_000014.9:64002761:C:T p.(Arg1277Cys) NC_000014.9:64002761:C:T p.(Arg1277Cys) NC_000014.9:64002761:C:T Identity +NM_000492.4:c.1310G>A NP_000483.3:p.Gly437Asp NC_000007.14:117548740:G:A p.(Gly437Asp) NC_000007.14:117548740:G:A p.(Gly437Asp) NC_000007.14:117548740:G:A Identity +NM_001271999.2:c.4840A>G NP_001258928.1:p.Ile1614Val NC_000001.11:62496394:T:C p.(Ile1614Val) NC_000001.11:62496394:T:C p.(Ile1614Val) NC_000001.11:62496394:T:C Identity +NM_001036.6:c.6769G>A NP_001027.3:p.Asp2257Asn NC_000015.10:33722863:G:A p.(Asp2257Asn) NC_000015.10:33722863:G:A p.(Asp2257Asn) NC_000015.10:33722863:G:A Identity +NM_000323.2:c.817C>A NP_000314.1:p.Pro273Thr NC_000010.11:43105142:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_003924.4:c.167G>T NP_003915.2:p.Gly56Val NC_000004.12:41748443:C:A p.(Gly56Val) NC_000004.12:41748443:C:A p.(Gly56Val) NC_000004.12:41748443:C:A Identity +NM_001363813.1:c.986G>C NP_001350742.1:p.Ser329Thr NC_000017.11:65541527:C:G p.(Ser329Thr) NC_000017.11:65541527:C:G p.(Ser329Thr) NC_000017.11:65541527:C:G Identity +NM_001281737.2:c.344C>T NP_001268666.1:p.Pro115Leu NC_000004.12:158684670:C:T p.(Pro115Leu) NC_000004.12:158684670:C:T p.(Pro115Leu) NC_000004.12:158684670:C:T Identity +NM_001365999.1:c.5146C>T NP_001352928.1:p.Gln1716Ter NC_000001.11:43431772:C:T p.(Gln1716Ter) NC_000001.11:43431772:C:T p.(Gln1716Ter) NC_000001.11:43431772:C:T Identity +NM_001371590.2:c.443T>A NP_001358519.1:p.Leu148His NC_000004.12:127939972:A:T p.(Leu148His) NC_000004.12:127939972:A:T p.(Leu148His) NC_000004.12:127939972:A:T Identity +NM_001164507.2:c.5977dup NP_001157979.2:p.Tyr1993fs NC_000002.12:151659162:A:AA p.(Tyr1993LeufsTer8) NC_000002.12:151659162:A:AA p.(Tyr1993LeufsTer8) ERR:SPDI Analogous +NM_001308133.2:c.1801C>T NP_001295062.1:p.Arg601Ter NC_000014.9:45167039:C:T p.(Arg601Ter) NC_000014.9:45167039:C:T p.(Arg601Ter) NC_000014.9:45167039:C:T Identity +NM_032043.3:c.25A>G NP_114432.2:p.Thr9Ala NC_000017.11:61861514:T:C p.(Thr9Ala) NC_000017.11:61861514:T:C p.(Thr9Ala) NC_000017.11:61861514:T:C Identity +NM_001318193.2:c.336C>G NP_001305122.2:p.Asp112Glu NC_000016.10:2046145:G:C p.(Asp112Glu) NC_000016.10:2046145:G:C p.(Asp112Glu) NC_000016.10:2046145:G:C Identity +NM_000171.4:c.1154C>A NP_000162.2:p.Ala385Asp NC_000005.10:151822868:G:T p.(Ala385Asp) NC_000005.10:151822868:G:T p.(Ala385Asp) NC_000005.10:151822868:G:T Identity +NM_001353229.2:c.234G>C NP_001340158.1:p.Lys78Asn NC_000017.11:17227903:C:G p.(Lys78Asn) NC_000017.11:17227903:C:G p.(Lys78Asn) NC_000017.11:17227903:C:G Identity +NM_001308133.2:c.5063C>A NP_001295062.1:p.Ala1688Glu NC_000014.9:45189162:C:A p.(Ala1688Glu) NC_000014.9:45189162:C:A p.(Ala1688Glu) NC_000014.9:45189162:C:A Identity +NM_001164507.2:c.24158T>C NP_001157979.2:p.Ile8053Thr NC_000002.12:151498308:A:G p.(Ile8053Thr) NC_000002.12:151498308:A:G p.(Ile8053Thr) NC_000002.12:151498308:A:G Identity +NM_002234.4:c.1153G>C NP_002225.2:p.Gly385Arg NC_000012.12:5045299:G:C p.(Gly385Arg) NC_000012.12:5045299:G:C p.(Gly385Arg) NC_000012.12:5045299:G:C Identity +NM_001303249.3:c.955G>A NP_001290178.1:p.Ala319Thr NC_000005.10:110761722:G:A p.(Ala319Thr) NC_000005.10:110761722:G:A p.(Ala319Thr) NC_000005.10:110761722:G:A Identity +NM_032043.3:c.529G>C NP_114432.2:p.Gly177Arg NC_000017.11:61847198:C:G p.(Gly177Arg) NC_000017.11:61847198:C:G p.(Gly177Arg) NC_000017.11:61847198:C:G Identity +NM_002900.3:c.3157G>A NP_002891.1:p.Gly1053Ser NC_000010.11:47353426:G:A p.(Gly1053Ser) NC_000010.11:47353426:G:A p.(Gly1053Ser) NC_000010.11:47353426:G:A Identity +NM_000070.3:c.397G>A NP_000061.1:p.Ala133Thr NC_000015.10:42386183:G:A p.(Ala133Thr) NC_000015.10:42386183:G:A p.(Ala133Thr) NC_000015.10:42386183:G:A Identity +NM_005477.3:c.697A>T NP_005468.1:p.Met233Leu NC_000015.10:73367573:T:A p.(Met233Leu) NC_000015.10:73367573:T:A p.(Met233Leu) NC_000015.10:73367573:T:A Identity +NM_033100.4:c.2301C>A NP_149091.1:p.Phe767Leu NC_000010.11:84214341:C:A p.(Phe767Leu) NC_000010.11:84214341:C:A p.(Phe767Leu) NC_000010.11:84214341:C:A Identity +NM_001127698.2:c.1681G>A NP_001121170.1:p.Glu561Lys NC_000005.10:148108825:G:A p.(Glu561Lys) NC_000005.10:148108825:G:A p.(Glu561Lys) NC_000005.10:148108825:G:A Identity +NM_001363147.1:c.226A>T NP_001350076.1:p.Ile76Leu NC_000005.10:71596308:A:T p.(Ile76Leu) NC_000005.10:71596308:A:T p.(Ile76Leu) NC_000005.10:71596308:A:T Identity +NM_001318856.2:c.232G>A NP_001305785.1:p.Ala78Thr NC_000006.12:42962856:G:A p.(Ala78Thr) NC_000006.12:42962856:G:A p.(Ala78Thr) NC_000006.12:42962856:G:A Identity +NM_000214.3:c.292T>C NP_000205.1:p.Ser98Pro NC_000020.11:10672795:A:G p.(Ser98Pro) NC_000020.11:10672795:A:G p.(Ser98Pro) NC_000020.11:10672795:A:G Identity +NM_001365951.3:c.2959G>A NP_001352880.1:p.Val987Met NC_000001.11:10334553:G:A p.(Val987Met) NC_000001.11:10334553:G:A p.(Val987Met) NC_000001.11:10334553:G:A Identity +NM_001007468.3:c.519G>T NP_001007469.1:p.Gln173His NC_000022.11:23803339:G:T p.(Gln173His) NC_000022.11:23803339:G:T p.(Gln173His) NC_000022.11:23803339:G:T Identity +NM_020461.4:c.551C>T NP_065194.3:p.Ala184Val NC_000022.11:50243908:G:A p.(Ala184Val) NC_000022.11:50243908:G:A p.(Ala184Val) NC_000022.11:50243908:G:A Identity +NM_000051.4:c.5585T>C NP_000042.3:p.Leu1862Pro NC_000011.10:108304762:T:C p.(Leu1862Pro) NC_000011.10:108304762:T:C p.(Leu1862Pro) NC_000011.10:108304762:T:C Identity +NM_002876.4:c.337G>C NP_002867.1:p.Gly113Arg NC_000017.11:58695121:G:C p.(Gly113Arg) NC_000017.11:58695121:G:C p.(Gly113Arg) NC_000017.11:58695121:G:C Identity +NM_004104.5:c.6829G>A NP_004095.4:p.Ala2277Thr NC_000017.11:82080587:C:T p.(Ala2277Thr) NC_000017.11:82080587:C:T p.(Ala2277Thr) NC_000017.11:82080587:C:T Identity +NM_001256849.1:c.3091C>T NP_001243778.1:p.Pro1031Ser NC_000019.10:50417067:C:T p.(Pro1031Ser) NC_000019.10:50417067:C:T p.(Pro1031Ser) NC_000019.10:50417067:C:T Identity +NM_000118.4:c.1759C>T NP_000109.1:p.Leu587Phe NC_000009.12:127816035:G:A p.(Leu587Phe) NC_000009.12:127816035:G:A p.(Leu587Phe) NC_000009.12:127816035:G:A Identity +NM_015192.4:c.3074A>G NP_056007.1:p.Tyr1025Cys NC_000020.11:8774681:A:G p.(Tyr1025Cys) NC_000020.11:8774681:A:G p.(Tyr1025Cys) NC_000020.11:8774681:A:G Identity +NM_022041.4:c.295G>A NP_071324.1:p.Glu99Lys NC_000016.10:81354416:G:A p.(Glu99Lys) NC_000016.10:81354416:G:A p.(Glu99Lys) NC_000016.10:81354416:G:A Identity +NM_005045.4:c.1556T>C NP_005036.2:p.Val519Ala NC_000007.14:103652757:A:G p.(Val519Ala) NC_000007.14:103652757:A:G p.(Val519Ala) NC_000007.14:103652757:A:G Identity +NM_194318.4:c.764C>A NP_919299.3:p.Ser255Tyr NC_000013.11:31274611:C:A p.(Ser255Tyr) NC_000013.11:31274611:C:A p.(Ser255Tyr) NC_000013.11:31274611:C:A Identity +NM_001159699.2:c.137A>G NP_001153171.1:p.Lys46Arg NC_000023.11:136206520:A:G p.(Lys46Arg) NC_000023.11:136206520:A:G p.(Lys46Arg) NC_000023.11:136206520:A:G Identity +NM_001386339.1:c.1408C>A NP_001373268.1:p.Pro470Thr NC_000011.10:9968532:G:T p.(Pro470Thr) NC_000011.10:9968532:G:T p.(Pro470Thr) NC_000011.10:9968532:G:T Identity +NM_004260.4:c.1199A>C NP_004251.4:p.Lys400Thr NC_000008.11:144515822:T:G p.(Lys400Thr) NC_000008.11:144515822:T:G p.(Lys400Thr) NC_000008.11:144515822:T:G Identity +NM_000260.4:c.37G>C NP_000251.3:p.Asp13His NC_000011.10:77142726:G:C p.(Asp13His) NC_000011.10:77142726:G:C p.(Asp13His) NC_000011.10:77142726:G:C Identity +NM_001006658.3:c.1559G>A NP_001006659.1:p.Arg520His NC_000001.11:207471487:G:A p.(Arg520His) NC_000001.11:207471487:G:A p.(Arg520His) NC_000001.11:207471487:G:A Identity +NM_032444.4:c.2499G>T NP_115820.2:p.Leu833Phe NC_000016.10:3591138:C:A p.(Leu833Phe) NC_000016.10:3591138:C:A p.(Leu833Phe) NC_000016.10:3591138:C:A Identity +NM_001008222.3:c.925A>G NP_001008223.1:p.Ser309Gly NC_000023.11:129810957:T:C p.(Ser309Gly) NC_000023.11:129810957:T:C p.(Ser309Gly) NC_000023.11:129810957:T:C Identity +NM_022168.4:c.643G>A NP_071451.2:p.Val215Ile NC_000002.12:162306834:C:T p.(Val215Ile) NC_000002.12:162306834:C:T p.(Val215Ile) NC_000002.12:162306834:C:T Identity +NM_001302946.2:c.838T>G NP_001289875.2:p.Phe280Val NC_000003.12:3147544:T:G p.(Phe280Val) NC_000003.12:3147544:T:G p.(Phe280Val) NC_000003.12:3147544:T:G Identity +NM_014704.4:c.1550T>C NP_055519.1:p.Leu517Pro NC_000001.11:3833970:A:G p.(Leu517Pro) NC_000001.11:3833970:A:G p.(Leu517Pro) NC_000001.11:3833970:A:G Identity +NM_001005862.3:c.275C>T NP_001005862.1:p.Pro92Leu NC_000017.11:39708459:C:T p.(Pro92Leu) NC_000017.11:39708459:C:T p.(Pro92Leu) NC_000017.11:39708459:C:T Identity +NM_001081676.2:c.5809C>A NP_001075145.1:p.Pro1937Thr NC_000002.12:165090196:G:T p.(Pro1937Thr) NC_000002.12:165090196:G:T p.(Pro1937Thr) NC_000002.12:165090196:G:T Identity +NM_024675.4:c.3126del NP_078951.2:p.Gly1043fs NC_000016.10:23614078:A: p.(Gly1043ValfsTer4) NC_000016.10:23614078:A: p.(Gly1043ValfsTer4) NC_000016.10:23614078:A: Analogous +NM_001353229.2:c.1108_1109del NP_001340158.1:p.Met370fs NC_000017.11:17219025:AT: p.(Met370GlufsTer37) NC_000017.11:17219025:AT: p.(Met370GlufsTer37) NC_000017.11:17219025:AT: Analogous +NM_001164507.2:c.7387A>T NP_001157979.2:p.Met2463Leu NC_000002.12:151650219:T:A p.(Met2463Leu) NC_000002.12:151650219:T:A p.(Met2463Leu) NC_000002.12:151650219:T:A Identity +NM_001375808.2:c.1957G>A NP_001362737.1:p.Asp653Asn NC_000018.10:2924527:C:T p.(Asp653Asn) NC_000018.10:2924527:C:T p.(Asp653Asn) NC_000018.10:2924527:C:T Identity +NM_000051.4:c.3244C>G NP_000042.3:p.His1082Asp NC_000011.10:108272811:C:G p.(His1082Asp) NC_000011.10:108272811:C:G p.(His1082Asp) NC_000011.10:108272811:C:G Identity +NM_000444.6:c.1109T>G NP_000435.3:p.Met370Arg NC_000023.11:22111495:T:G p.(Met370Arg) NC_000023.11:22111495:T:G p.(Met370Arg) NC_000023.11:22111495:T:G Identity +NM_001127178.3:c.228G>T NP_001120650.1:p.Leu76Phe NC_000004.12:500468:G:T p.(Leu76Phe) NC_000004.12:500468:G:T p.(Leu76Phe) NC_000004.12:500468:G:T Identity +NM_002246.3:c.1067C>A NP_002237.1:p.Thr356Lys NC_000002.12:26728449:C:A p.(Thr356Lys) NC_000002.12:26728449:C:A p.(Thr356Lys) NC_000002.12:26728449:C:A Identity +NM_001184985.2:c.3038G>A NP_001171914.1:p.Gly1013Asp NC_000012.12:868763:G:A p.(Gly1013Asp) NC_000012.12:868763:G:A p.(Gly1013Asp) NC_000012.12:868763:G:A Identity +NM_000051.4:c.1689G>T NP_000042.3:p.Met563Ile NC_000011.10:108251917:G:T p.(Met563Ile) NC_000011.10:108251917:G:T p.(Met563Ile) NC_000011.10:108251917:G:T Identity +NM_001330660.2:c.17C>A NP_001317589.1:p.Pro6Gln NC_000009.12:35748687:G:T p.(Pro6Gln) NC_000009.12:35748687:G:T p.(Pro6Gln) NC_000009.12:35748687:G:T Identity +NM_000465.4:c.506T>A NP_000456.2:p.Ile169Lys NC_000002.12:214781367:A:T p.(Ile169Lys) NC_000002.12:214781367:A:T p.(Ile169Lys) NC_000002.12:214781367:A:T Identity +NM_002292.4:c.2432G>A NP_002283.3:p.Arg811His NC_000003.12:49125802:C:T p.(Arg811His) NC_000003.12:49125802:C:T p.(Arg811His) NC_000003.12:49125802:C:T Identity +NM_000548.5:c.4760G>A NP_000539.2:p.Cys1587Tyr NC_000016.10:2086289:G:A p.(Cys1587Tyr) NC_000016.10:2086289:G:A p.(Cys1587Tyr) NC_000016.10:2086289:G:A Identity +NM_001182.5:c.832G>T NP_001173.2:p.Val278Leu NC_000005.10:126568297:C:A p.(Val278Leu) NC_000005.10:126568297:C:A p.(Val278Leu) NC_000005.10:126568297:C:A Identity +NM_001190787.3:c.1154G>T NP_001177716.1:p.Ser385Ile NC_000005.10:55220369:C:A p.(Ser385Ile) NC_000005.10:55220369:C:A p.(Ser385Ile) NC_000005.10:55220369:C:A Identity +NM_000075.4:c.107G>C NP_000066.1:p.Ser36Thr NC_000012.12:57751610:C:G p.(Ser36Thr) NC_000012.12:57751610:C:G p.(Ser36Thr) NC_000012.12:57751610:C:G Identity +NM_001143838.3:c.1172T>C NP_001137310.1:p.Phe391Ser NC_000017.11:6693146:A:G p.(Phe391Ser) NC_000017.11:6693146:A:G p.(Phe391Ser) NC_000017.11:6693146:A:G Identity +NM_006231.4:c.4180G>T NP_006222.2:p.Val1394Phe NC_000012.12:132643946:C:A p.(Val1394Phe) NC_000012.12:132643946:C:A p.(Val1394Phe) NC_000012.12:132643946:C:A Identity +NM_020949.3:c.1976C>T NP_066000.2:p.Ala659Val NC_000003.12:170480305:G:A p.(Ala659Val) NC_000003.12:170480305:G:A p.(Ala659Val) NC_000003.12:170480305:G:A Identity +NM_001079802.2:c.711C>G NP_001073270.1:p.His237Gln NC_000009.12:105607881:C:G p.(His237Gln) NC_000009.12:105607881:C:G p.(His237Gln) NC_000009.12:105607881:C:G Identity +NM_006218.4:c.1501T>A NP_006209.2:p.Ser501Thr NC_000003.12:179210526:T:A p.(Ser501Thr) NC_000003.12:179210526:T:A p.(Ser501Thr) NC_000003.12:179210526:T:A Identity +NM_001407688.1:c.4685T>C NP_001394617.1:p.Leu1562Ser NC_000017.11:43071099:A:G p.(Leu1562Ser) NC_000017.11:43071099:A:G p.(Leu1562Ser) NC_000017.11:43071099:A:G Identity +NM_000245.4:c.3446G>C NP_000236.2:p.Ser1149Thr NC_000007.14:116778880:G:C p.(Ser1149Thr) NC_000007.14:116778880:G:C p.(Ser1149Thr) NC_000007.14:116778880:G:C Identity +NM_000076.2:c.794A>G NP_000067.1:p.Lys265Arg NC_000011.10:2884695:T:C p.(Lys265Arg) NC_000011.10:2884695:T:C p.(Lys265Arg) NC_000011.10:2884695:T:C Identity +NM_006343.3:c.1513A>G NP_006334.2:p.Ile505Val NC_000002.12:111997384:A:G p.(Ile505Val) NC_000002.12:111997384:A:G p.(Ile505Val) NC_000002.12:111997384:A:G Identity +NM_005120.3:c.76C>G NP_005111.2:p.Pro26Ala NC_000023.11:71118829:C:G p.(Pro26Ala) NC_000023.11:71118829:C:G p.(Pro26Ala) NC_000023.11:71118829:C:G Identity +NM_001365684.2:c.5447G>A NP_001352613.2:p.Arg1816His NC_000005.10:177292014:G:A p.(Arg1816His) NC_000005.10:177292014:G:A p.(Arg1816His) NC_000005.10:177292014:G:A Identity +NM_006218.4:c.1345C>T NP_006209.2:p.Pro449Ser NC_000003.12:179210278:C:T p.(Pro449Ser) NC_000003.12:179210278:C:T p.(Pro449Ser) NC_000003.12:179210278:C:T Identity +NM_001256213.2:c.307A>G NP_001243142.1:p.Ile103Val NC_000019.10:41988018:T:C p.(Ile103Val) NC_000019.10:41988018:T:C p.(Ile103Val) NC_000019.10:41988018:T:C Identity +NM_001354689.3:c.1673T>C NP_001341618.1:p.Leu558Ser NC_000003.12:12585176:A:G p.(Leu558Ser) NC_000003.12:12585176:A:G p.(Leu558Ser) NC_000003.12:12585176:A:G Identity +NM_001352773.2:c.2021A>G NP_001339702.1:p.Lys674Arg NC_000017.11:41757439:T:C p.(Lys674Arg) NC_000017.11:41757439:T:C p.(Lys674Arg) NC_000017.11:41757439:T:C Identity +NM_001305005.3:c.1556C>G NP_001291934.1:p.Ala519Gly NC_000002.12:108010673:C:G p.(Ala519Gly) NC_000002.12:108010673:C:G p.(Ala519Gly) NC_000002.12:108010673:C:G Identity +NM_000329.3:c.113T>G NP_000320.1:p.Leu38Arg NC_000001.11:68446841:A:C p.(Leu38Arg) NC_000001.11:68446841:A:C p.(Leu38Arg) NC_000001.11:68446841:A:C Identity +NM_001122769.3:c.1794del NP_001116241.1:p.Glu599fs NC_000006.12:79487303:TTTT:TTT p.(Glu599ArgfsTer6) NC_000006.12:79487303:TTTT:TTT p.(Glu599ArgfsTer6) NC_000006.12:79487303:T: Analogous +NM_206933.4:c.7468del NP_996816.3:p.Ser2490fs NC_000001.11:215900200:AA:A p.(Ser2490LeufsTer4) NC_000001.11:215900200:AA:A p.(Ser2490LeufsTer4) NC_000001.11:215900200:A: Analogous +NM_000350.3:c.1726G>C NP_000341.2:p.Asp576His NC_000001.11:94063145:C:G p.(Asp576His) NC_000001.11:94063145:C:G p.(Asp576His) NC_000001.11:94063145:C:G Identity +NM_016247.4:c.3233G>A NP_057331.2:p.Arg1078Lys NC_000003.12:101232780:C:T p.(Arg1078Lys) NC_000003.12:101232780:C:T p.(Arg1078Lys) NC_000003.12:101232780:C:T Identity +NM_001293306.2:c.5476G>A NP_001280235.2:p.Glu1826Lys NC_000003.12:38697740:C:T p.(Glu1826Lys) NC_000003.12:38697740:C:T p.(Glu1826Lys) NC_000003.12:38697740:C:T Identity +NM_000350.3:c.4468T>G NP_000341.2:p.Cys1490Gly NC_000001.11:94029515:A:C p.(Cys1490Gly) NC_000001.11:94029515:A:C p.(Cys1490Gly) NC_000001.11:94029515:A:C Identity +NM_001318502.2:c.1505C>T NP_001305431.1:p.Ala502Val NC_000009.12:136431864:G:A p.(Ala502Val) NC_000009.12:136431864:G:A p.(Ala502Val) NC_000009.12:136431864:G:A Identity +NM_003322.6:c.246_247del NP_003313.3:p.Pro84fs NC_000006.12:35511749:CCC:C p.(Pro84AlafsTer89) NC_000006.12:35511749:CCC:C p.(Pro84AlafsTer89) NC_000006.12:35511749:CC: Analogous +NM_000328.3:c.198G>C NP_000319.1:p.Gln66His NC_000023.11:38322901:C:G p.(Gln66His) NC_000023.11:38322901:C:G p.(Gln66His) NC_000023.11:38322901:C:G Identity +NM_001034853.2:c.2409del NP_001030025.1:p.Arg804fs NC_000023.11:38286589:CCCC:CCC p.(Arg804GlufsTer11) NC_000023.11:38286589:CCCC:CCC p.(Arg804GlufsTer11) NC_000023.11:38286589:C: Analogous +NM_000322.5:c.246C>A NP_000313.2:p.Cys82Ter NC_000006.12:42722088:G:T p.(Cys82Ter) NC_000006.12:42722088:G:T p.(Cys82Ter) NC_000006.12:42722088:G:T Identity +NM_004523.4:c.1134T>G NP_004514.2:p.Tyr378Ter NC_000010.11:92621389:T:G p.(Tyr378Ter) NC_000010.11:92621389:T:G p.(Tyr378Ter) NC_000010.11:92621389:T:G Identity +NM_014714.4:c.3581A>G NP_055529.2:p.Gln1194Arg NC_000016.10:1520680:T:C p.(Gln1194Arg) NC_000016.10:1520680:T:C p.(Gln1194Arg) NC_000016.10:1520680:T:C Identity +NM_001034853.2:c.2937_2953del NP_001030025.1:p.Glu980fs NC_000023.11:38286045:CCTCCTCTTCCCCCTCCCCT:CCT p.(Glu980ArgfsTer93) NC_000023.11:38286045:CCTCCTCTTCCCCCTCCCCT:CCT p.(Glu980ArgfsTer93) NC_000023.11:38286045:CCTCCTCTTCCCCCTCC: Analogous +NM_080679.3:c.2754del NP_542410.2:p.Gly920fs NC_000006.12:33171787:T: p.(Gly920AspfsTer318) NC_000006.12:33171787:T: p.(Gly920AspfsTer318) NC_000006.12:33171787:T: Analogous +NM_206933.4:c.12359G>A NP_996816.3:p.Arg4120His NC_000001.11:215675551:C:T p.(Arg4120His) NC_000001.11:215675551:C:T p.(Arg4120His) NC_000001.11:215675551:C:T Identity +NM_000350.3:c.3022T>C NP_000341.2:p.Cys1008Arg NC_000001.11:94044640:A:G p.(Cys1008Arg) NC_000001.11:94044640:A:G p.(Cys1008Arg) NC_000001.11:94044640:A:G Identity +NM_007123.6:c.263G>T NP_009054.6:p.Cys88Phe NC_000001.11:216422073:C:A p.(Cys88Phe) NC_000001.11:216422073:C:A p.(Cys88Phe) NC_000001.11:216422073:C:A Identity +NM_001288781.1:c.325A>G NP_001275710.1:p.Ile109Val NC_000014.9:88841061:A:G p.(Ile109Val) NC_000014.9:88841061:A:G p.(Ile109Val) NC_000014.9:88841061:A:G Identity +NM_014014.5:c.1783A>G NP_054733.2:p.Ile595Val NC_000002.12:96295546:T:C p.(Ile595Val) NC_000002.12:96295546:T:C p.(Ile595Val) NC_000002.12:96295546:T:C Identity +NM_000283.4:c.315del NP_000274.3:p.Glu105fs NC_000004.12:625940:G: p.(Glu105AspfsTer45) NC_000004.12:625940:G: p.(Glu105AspfsTer45) NC_000004.12:625940:G: Analogous +NM_000883.4:c.862C>T NP_000874.2:p.Arg288Cys NC_000007.14:128400106:G:A p.(Arg288Cys) NC_000007.14:128400106:G:A p.(Arg288Cys) NC_000007.14:128400106:G:A Identity +NM_000539.3:c.31G>A NP_000530.1:p.Val11Met NC_000003.12:129528763:G:A p.(Val11Met) NC_000003.12:129528763:G:A p.(Val11Met) NC_000003.12:129528763:G:A Identity +NM_001034853.2:c.2360_2362del NP_001030025.1:p.Gly787del NC_000023.11:38286636:CTCCT:CT p.(Gly787del) NC_000023.11:38286636:CTCCT:CT p.(Gly787del) NC_000023.11:38286636:CTC: Identity +NM_001034853.2:c.2234_2237del NP_001030025.1:p.Arg745fs NC_000023.11:38286761:TCTCT:T p.(Arg745LysfsTer69) NC_000023.11:38286761:TCTCT:T p.(Arg745LysfsTer69) NC_000023.11:38286761:TCTC: Analogous +NM_206933.4:c.5959T>A NP_996816.3:p.Tyr1987Asn NC_000001.11:216070190:A:T p.(Tyr1987Asn) NC_000001.11:216070190:A:T p.(Tyr1987Asn) NC_000001.11:216070190:A:T Identity +NM_002900.3:c.3452C>T NP_002891.1:p.Ala1151Val NC_000010.11:47357164:C:T p.(Ala1151Val) NC_000010.11:47357164:C:T p.(Ala1151Val) NC_000010.11:47357164:C:T Identity +NM_000883.4:c.809_810delinsGT NP_000874.2:p.Leu270Arg NC_000007.14:128400158:CA:AC p.(Leu270Arg) NC_000007.14:128400158:CA:AC p.(Leu270Arg) NC_000007.14:128400158:CA:AC Identity +NM_001384158.1:c.1457A>T NP_001371087.1:p.Gln486Leu NC_000014.9:91870236:T:A p.(Gln486Leu) NC_000014.9:91870236:T:A p.(Gln486Leu) NC_000014.9:91870236:T:A Identity +NM_000350.3:c.6094C>T NP_000341.2:p.His2032Tyr NC_000001.11:94005493:G:A p.(His2032Tyr) NC_000001.11:94005493:G:A p.(His2032Tyr) NC_000001.11:94005493:G:A Identity +NM_000180.4:c.2860C>G NP_000171.1:p.Leu954Val NC_000017.11:8015417:C:G p.(Leu954Val) NC_000017.11:8015417:C:G p.(Leu954Val) NC_000017.11:8015417:C:G Identity +NM_000883.4:c.943A>T NP_000874.2:p.Asn315Tyr NC_000007.14:128398544:T:A p.(Asn315Tyr) NC_000007.14:128398544:T:A p.(Asn315Tyr) NC_000007.14:128398544:T:A Identity +NM_014014.5:c.3688A>G NP_054733.2:p.Ser1230Gly NC_000002.12:96286828:T:C p.(Ser1230Gly) NC_000002.12:96286828:T:C p.(Ser1230Gly) NC_000002.12:96286828:T:C Identity +NM_016247.4:c.1739T>G NP_057331.2:p.Leu580Ter NC_000003.12:101244591:A:C p.(Leu580Ter) NC_000003.12:101244591:A:C p.(Leu580Ter) NC_000003.12:101244591:A:C Identity +NM_004523.4:c.2729dup NP_004514.2:p.Asn910fs NC_000010.11:92648391:AA:AAA p.(Asn910LysfsTer33) NC_000010.11:92648391:AA:AAA p.(Asn910LysfsTer33) ERR:SPDI Analogous +NM_206933.4:c.9944A>G NP_996816.3:p.Tyr3315Cys NC_000001.11:215798920:T:C p.(Tyr3315Cys) NC_000001.11:215798920:T:C p.(Tyr3315Cys) NC_000001.11:215798920:T:C Identity +NM_000328.3:c.327dup NP_000319.1:p.Ala110fs NC_000023.11:38318970:A:AA p.(Ala110CysfsTer6) NC_000023.11:38318970:A:AA p.(Ala110CysfsTer6) ERR:SPDI Analogous +NM_001034853.2:c.2601_2602del NP_001030025.1:p.Glu868fs NC_000023.11:38286396:CCCC:CC p.(Glu868GlyfsTer210) NC_000023.11:38286396:CCCC:CC p.(Glu868GlyfsTer210) NC_000023.11:38286396:CC: Analogous +NM_014014.5:c.2044C>T NP_054733.2:p.Pro682Ser NC_000002.12:96293087:G:A p.(Pro682Ser) NC_000002.12:96293087:G:A p.(Pro682Ser) NC_000002.12:96293087:G:A Identity +NM_000843.4:c.2624C>A NP_000834.2:p.Ala875Asp NC_000005.10:178981666:G:T p.(Ala875Asp) NC_000005.10:178981666:G:T p.(Ala875Asp) NC_000005.10:178981666:G:T Identity +NM_001098802.3:c.211del NP_001092272.1:p.Val71fs NC_000009.12:78236559:GG:G p.(Val71SerfsTer18) NC_000009.12:78236559:GG:G p.(Val71SerfsTer18) NC_000009.12:78236560:G: Analogous +NM_001178007.2:c.789C>A NP_001171478.1:p.Tyr263Ter NC_000004.12:122742680:C:A p.(Tyr263Ter) NC_000004.12:122742680:C:A p.(Tyr263Ter) NC_000004.12:122742680:C:A Identity +NM_006445.4:c.6901C>T NP_006436.3:p.Pro2301Ser NC_000017.11:1650908:G:A p.(Pro2301Ser) NC_000017.11:1650908:G:A p.(Pro2301Ser) NC_000017.11:1650908:G:A Identity +NM_206933.4:c.12409del NP_996816.3:p.Arg4137fs NC_000001.11:215675501:T: p.(Arg4137GlufsTer30) NC_000001.11:215675501:T: p.(Arg4137GlufsTer30) NC_000001.11:215675501:T: Analogous +NM_016247.4:c.819T>G NP_057331.2:p.Phe273Leu NC_000003.12:101273589:A:C p.(Phe273Leu) NC_000003.12:101273589:A:C p.(Phe273Leu) NC_000003.12:101273589:A:C Identity +NM_012469.4:c.541C>G NP_036601.2:p.Pro181Ala NC_000020.11:63995017:C:G p.(Pro181Ala) NC_000020.11:63995017:C:G p.(Pro181Ala) NC_000020.11:63995017:C:G Identity +NM_000390.4:c.535dup NP_000381.1:p.Glu179fs NC_000023.11:85963831:C:CC p.(Glu179GlyfsTer5) NC_000023.11:85963831:C:CC p.(Glu179GlyfsTer5) ERR:SPDI Analogous +NM_206933.4:c.12581G>A NP_996816.3:p.Cys4194Tyr NC_000001.11:215675329:C:T p.(Cys4194Tyr) NC_000001.11:215675329:C:T p.(Cys4194Tyr) NC_000001.11:215675329:C:T Identity +NM_000554.6:c.378A>C NP_000545.1:p.Arg126Ser NC_000019.10:47839444:A:C p.(Arg126Ser) NC_000019.10:47839444:A:C p.(Arg126Ser) NC_000019.10:47839444:A:C Identity +NM_178857.6:c.955G>A NP_849188.4:p.Gly319Ser NC_000008.11:10613142:C:T p.(Gly319Ser) NC_000008.11:10613142:C:T p.(Gly319Ser) NC_000008.11:10613142:C:T Identity +NM_001193640.2:c.2765G>A NP_001180569.1:p.Trp922Ter NC_000001.11:197434963:G:A p.(Trp922Ter) NC_000001.11:197434963:G:A p.(Trp922Ter) NC_000001.11:197434963:G:A Identity +NM_000518.5:c.85del NP_000509.1:p.Leu29fs NC_000011.10:5226936:GGG:GG p.(Leu29TrpfsTer33) NC_000011.10:5226936:GGG:GG p.(Leu29TrpfsTer33) NC_000011.10:5226936:G: Analogous +NM_052844.4:c.1340_1341delinsTA NP_443076.2:p.Arg447Leu NC_000009.12:128634256:CC:TA p.(Arg447Leu) NC_000009.12:128634256:CC:TA p.(Arg447Leu) NC_000009.12:128634256:CC:TA Identity +NM_001130455.2:c.6144del NP_001123927.1:p.Ile2049fs NC_000002.12:71682613:C: p.(Ile2049SerfsTer26) NC_000002.12:71682613:C: p.(Ile2049SerfsTer26) NC_000002.12:71682613:C: Analogous +LRG_398t1:c.2391C>A LRG_398p1:p.Tyr797Ter NC_000012.12:32796206:G:T ERR:Data provider error: ValueError: Transcript LRG_398t1 not found ERR:Data provider error: ValueError: Transcript LRG_398t1 not found ERR:AlignmentMapper(tx_ac=LRG_398t1, alt_ac=LRG_398t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_398t1, alt_ac=LRG_398t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_398t1 not found +NM_001130518.2:c.1151C>G NP_001123990.1:p.Pro384Arg NC_000008.11:19418731:G:C p.(Pro384Arg) NC_000008.11:19418731:G:C p.(Pro384Arg) NC_000008.11:19418731:G:C Identity +NM_001350236.2:c.939G>C NP_001337165.1:p.Glu313Asp NC_000011.10:126345516:G:C p.(Glu313Asp) NC_000011.10:126345516:G:C p.(Glu313Asp) NC_000011.10:126345516:G:C Identity +NM_001128431.4:c.508C>G NP_001121903.1:p.Leu170Val NC_000008.11:22412086:C:G p.(Leu170Val) NC_000008.11:22412086:C:G p.(Leu170Val) NC_000008.11:22412086:C:G Identity +NM_001372044.2:c.2962_2996del NP_001358973.1:p.Thr988fs NC_000022.11:50720561:CCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCC:CCGCGGCC p.(Gly988GlnfsTer358) NC_000022.11:50720608:GGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTT: p.(Gly988GlnfsTer358) NC_000022.11:50720608:GGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTT: Analogous +NM_002764.4:c.395C>T NP_002755.1:p.Ser132Phe NC_000023.11:107640989:C:T p.(Ser132Phe) NC_000023.11:107640989:C:T p.(Ser132Phe) NC_000023.11:107640989:C:T Identity +NM_001321080.2:c.862C>T NP_001308009.1:p.Arg288Ter NC_000006.12:104791583:G:A p.(Arg288Ter) NC_000006.12:104791583:G:A p.(Arg288Ter) NC_000006.12:104791583:G:A Identity +NM_000204.5:c.877T>C NP_000195.3:p.Cys293Arg NC_000004.12:109760275:A:G p.(Cys293Arg) NC_000004.12:109760275:A:G p.(Cys293Arg) NC_000004.12:109760275:A:G Identity +NM_000186.4:c.1612G>C NP_000177.2:p.Asp538His NC_000001.11:196715684:G:C p.(Asp538His) NC_000001.11:196715684:G:C p.(Asp538His) NC_000001.11:196715684:G:C Identity +NM_001126335.2:c.857C>T NP_001119807.1:p.Ser286Phe NC_000019.10:32859856:G:A p.(Ser286Phe) NC_000019.10:32859856:G:A p.(Ser286Phe) NC_000019.10:32859856:G:A Identity +NM_001271885.2:c.347G>A NP_001258814.1:p.Gly116Asp NC_000015.10:67208602:C:T p.(Gly116Asp) NC_000015.10:67208602:C:T p.(Gly116Asp) NC_000015.10:67208602:C:T Identity +NM_001372044.2:c.4657G>A NP_001358973.1:p.Val1553Met NC_000022.11:50722264:G:A ERR:TranscriptMismatch:expected G, found C at transcript indices 5026..5027 NC_000022.11:50722303:C:A ERR:NM_001372044.2:c.4657G>A: Variant reference (G) does not agree with reference sequence (C) ERR:NM_001372044.2:c.4657G>A: Variant reference (G) does not agree with reference sequence (C) Unknown +NM_001172477.1:c.837G>T NP_001165948.1:p.Trp279Cys NC_000008.11:102218876:C:A p.(Trp279Cys) NC_000008.11:102218876:C:A p.(Trp279Cys) NC_000008.11:102218876:C:A Identity +NM_000390.4:c.645del NP_000381.1:p.Thr216fs NC_000023.11:85963721:AA:A p.(Thr216LeufsTer16) NC_000023.11:85963721:AA:A p.(Thr216LeufsTer16) NC_000023.11:85963721:A: Analogous +NM_015662.3:c.2155C>T NP_056477.1:p.His719Tyr NC_000002.12:27461796:G:A p.(His719Tyr) NC_000002.12:27461796:G:A p.(His719Tyr) NC_000002.12:27461796:G:A Identity +NM_003924.4:c.234C>G NP_003915.2:p.Tyr78Ter NC_000004.12:41748376:G:C p.(Tyr78Ter) NC_000004.12:41748376:G:C p.(Tyr78Ter) NC_000004.12:41748376:G:C Identity +NM_001350334.2:c.424C>T NP_001337263.1:p.Gln142Ter NC_000021.9:32602312:G:A p.(Gln142Ter) NC_000021.9:32602312:G:A p.(Gln142Ter) NC_000021.9:32602312:G:A Identity +NM_001451.3:c.950del NP_001442.2:p.Asn317fs NC_000016.10:86511517:AA:A p.(Asn317ThrfsTer62) NC_000016.10:86511517:AA:A p.(Asn317ThrfsTer62) NC_000016.10:86511518:A: Analogous +NM_000531.6:c.568dup NP_000522.3:p.Thr190fs NC_000023.11:38403644:A:AA p.(Thr190AsnfsTer35) NC_000023.11:38403644:A:AA p.(Thr190AsnfsTer35) ERR:SPDI Analogous +NM_001018115.3:c.2204G>A NP_001018125.1:p.Arg735Gln NC_000003.12:10065428:G:A p.(Arg735Gln) NC_000003.12:10065428:G:A p.(Arg735Gln) NC_000003.12:10065428:G:A Identity +NM_000297.4:c.2819G>A NP_000288.1:p.Arg940His NC_000004.12:88075605:G:A p.(Arg940His) NC_000004.12:88075605:G:A p.(Arg940His) NC_000004.12:88075605:G:A Identity +NM_007118.4:c.2570A>G NP_009049.2:p.Asn857Ser NC_000005.10:14363909:A:G p.(Asn857Ser) NC_000005.10:14363909:A:G p.(Asn857Ser) NC_000005.10:14363909:A:G Identity +NM_000634.3:c.1003C>T NP_000625.1:p.Arg335Cys NC_000002.12:218164208:G:A p.(Arg335Cys) NC_000002.12:218164208:G:A p.(Arg335Cys) NC_000002.12:218164208:G:A Identity +NM_000495.5:c.1799G>T NP_000486.1:p.Gly600Val NC_000023.11:108598720:G:T p.(Gly600Val) NC_000023.11:108598720:G:T p.(Gly600Val) NC_000023.11:108598720:G:T Identity +NM_001089.3:c.1408A>C NP_001080.2:p.Met470Leu NC_000016.10:2304027:T:G p.(Met470Leu) NC_000016.10:2304027:T:G p.(Met470Leu) NC_000016.10:2304027:T:G Identity +NM_001130518.2:c.1294G>T NP_001123990.1:p.Asp432Tyr NC_000008.11:19408627:C:A p.(Asp432Tyr) NC_000008.11:19408627:C:A p.(Asp432Tyr) NC_000008.11:19408627:C:A Identity +NM_001308164.2:c.806G>A NP_001295093.1:p.Arg269Gln NC_000003.12:158652154:G:A p.(Arg269Gln) NC_000003.12:158652154:G:A p.(Arg269Gln) NC_000003.12:158652154:G:A Identity +NM_000540.3:c.4715T>C NP_000531.2:p.Met1572Thr NC_000019.10:38483296:T:C p.(Met1572Thr) NC_000019.10:38483296:T:C p.(Met1572Thr) NC_000019.10:38483296:T:C Identity +NM_001386339.1:c.3389C>G NP_001373268.1:p.Ser1130Cys NC_000011.10:9839563:G:C p.(Ser1130Cys) NC_000011.10:9839563:G:C p.(Ser1130Cys) NC_000011.10:9839563:G:C Identity +NM_207361.6:c.3937G>T NP_997244.4:p.Glu1313Ter NC_000013.11:38691280:G:T p.(Glu1313Ter) NC_000013.11:38691280:G:T p.(Glu1313Ter) NC_000013.11:38691280:G:T Identity +NM_002180.3:c.647C>A NP_002171.2:p.Pro216His NC_000011.10:68911538:C:A p.(Pro216His) NC_000011.10:68911538:C:A p.(Pro216His) NC_000011.10:68911538:C:A Identity +NM_000260.4:c.1094A>C NP_000251.3:p.Asp365Ala NC_000011.10:77160175:A:C p.(Asp365Ala) NC_000011.10:77160175:A:C p.(Asp365Ala) NC_000011.10:77160175:A:C Identity +NM_001378414.1:c.989C>T NP_001365343.1:p.Ala330Val NC_000002.12:239134632:G:A p.(Ala330Val) NC_000002.12:239134632:G:A p.(Ala330Val) NC_000002.12:239134632:G:A Identity +NM_001363725.2:c.2330C>T NP_001350654.1:p.Ala777Val NC_000006.12:157201053:C:T p.(Ala777Val) NC_000006.12:157201053:C:T p.(Ala777Val) NC_000006.12:157201053:C:T Identity +NM_001244710.2:c.1482G>C NP_001231639.1:p.Lys494Asn NC_000002.12:69337897:C:G p.(Lys494Asn) NC_000002.12:69337897:C:G p.(Lys494Asn) NC_000002.12:69337897:C:G Identity +NM_001197104.2:c.3497A>C NP_001184033.1:p.Asp1166Ala NC_000011.10:118478128:A:C p.(Asp1166Ala) NC_000011.10:118478128:A:C p.(Asp1166Ala) NC_000011.10:118478128:A:C Identity +NM_015180.6:c.20608C>T NP_055995.4:p.Arg6870Trp NC_000014.9:64225475:C:T p.(Arg6870Trp) NC_000014.9:64225475:C:T p.(Arg6870Trp) NC_000014.9:64225475:C:T Identity +NM_000834.5:c.4050CAA[2] NP_000825.2:p.Asn1352del NC_000012.12:13563179:TTGTTGTTG:TTGTTG p.(Asn1352del) NC_000012.12:13563187:G:TTGTTG ERR:Parse ERR:Parse Identity +NM_001079821.3:c.992G>A NP_001073289.2:p.Ser331Asn NC_000001.11:247424440:G:A p.(Ser331Asn) NC_000001.11:247424440:G:A p.(Ser331Asn) NC_000001.11:247424440:G:A Identity +NM_001260.3:c.599G>A NP_001251.1:p.Arg200Gln NC_000013.11:26385294:G:A p.(Arg200Gln) NC_000013.11:26385294:G:A p.(Arg200Gln) NC_000013.11:26385294:G:A Identity +NM_080679.3:c.4117G>A NP_542410.2:p.Gly1373Arg NC_000006.12:33165974:C:T p.(Gly1373Arg) NC_000006.12:33165974:C:T p.(Gly1373Arg) NC_000006.12:33165974:C:T Identity +NM_000548.5:c.5330C>A NP_000539.2:p.Pro1777His NC_000016.10:2088515:C:A p.(Pro1777His) NC_000016.10:2088515:C:A p.(Pro1777His) NC_000016.10:2088515:C:A Identity +NM_001004426.3:c.1465C>T NP_001004426.1:p.Arg489Cys NC_000022.11:38120873:G:A p.(Arg489Cys) NC_000022.11:38120873:G:A p.(Arg489Cys) NC_000022.11:38120873:G:A Identity +NM_133261.3:c.662C>T NP_573568.1:p.Thr221Ile NC_000019.10:3589511:C:T p.(Thr221Ile) NC_000019.10:3589511:C:T p.(Thr221Ile) NC_000019.10:3589511:C:T Identity +NM_001080517.3:c.2755A>G NP_001073986.1:p.Lys919Glu NC_000003.12:9470488:A:G p.(Lys919Glu) NC_000003.12:9470488:A:G p.(Lys919Glu) NC_000003.12:9470488:A:G Identity +NM_001306177.2:c.1087del NP_001293106.1:p.Glu363fs NC_000023.11:136681898:C: p.(Glu363LysfsTer27) NC_000023.11:136681898:C: p.(Glu363LysfsTer27) NC_000023.11:136681898:C: Analogous +NM_000313.4:c.1774A>C NP_000304.2:p.Ile592Leu NC_000003.12:93877061:T:G p.(Ile592Leu) NC_000003.12:93877061:T:G p.(Ile592Leu) NC_000003.12:93877061:T:G Identity +NM_001304815.2:c.4055T>A NP_001291744.1:p.Ile1352Asn NC_000019.10:42289373:T:A p.(Ile1352Asn) NC_000019.10:42289373:T:A p.(Ile1352Asn) NC_000019.10:42289373:T:A Identity +NM_001271938.2:c.4363G>A NP_001258867.1:p.Ala1455Thr NC_000019.10:42355975:G:A p.(Ala1455Thr) NC_000019.10:42355975:G:A p.(Ala1455Thr) NC_000019.10:42355975:G:A Identity +NM_000089.4:c.1081G>T NP_000080.2:p.Gly361Cys NC_000007.14:94410286:G:T p.(Gly361Cys) NC_000007.14:94410286:G:T p.(Gly361Cys) NC_000007.14:94410286:G:T Identity +NM_000495.5:c.4803G>C NP_000486.1:p.Met1601Ile NC_000023.11:108694920:G:C p.(Met1601Ile) NC_000023.11:108694920:G:C p.(Met1601Ile) NC_000023.11:108694920:G:C Identity +NM_001267782.2:c.239C>T NP_001254711.1:p.Thr80Met NC_000011.10:46547251:G:A p.(Thr80Met) NC_000011.10:46547251:G:A p.(Thr80Met) NC_000011.10:46547251:G:A Identity +NM_000518.5:c.24dup NP_000509.1:p.Lys9fs NC_000011.10:5226997:C:CC p.(Lys9GlufsTer15) NC_000011.10:5226997:C:CC p.(Lys9GlufsTer15) ERR:SPDI Analogous +NM_001040142.2:c.2217G>A NP_001035232.1:p.Trp739Ter NC_000002.12:165331396:G:A p.(Trp739Ter) NC_000002.12:165331396:G:A p.(Trp739Ter) NC_000002.12:165331396:G:A Identity +NM_000296.4:c.1193C>T NP_000287.4:p.Pro398Leu NC_000016.10:2117798:G:A p.(Pro398Leu) NC_000016.10:2117798:G:A p.(Pro398Leu) NC_000016.10:2117798:G:A Identity +NM_001165963.4:c.2710T>G NP_001159435.1:p.Phe904Val NC_000002.12:166038011:A:C p.(Phe904Val) NC_000002.12:166038011:A:C p.(Phe904Val) NC_000002.12:166038011:A:C Identity +NM_000350.3:c.3533G>A NP_000341.2:p.Ser1178Asn NC_000001.11:94040116:C:T p.(Ser1178Asn) NC_000001.11:94040116:C:T p.(Ser1178Asn) NC_000001.11:94040116:C:T Identity +NM_001316767.2:c.406G>A NP_001303696.1:p.Val136Ile NC_000001.11:146018273:C:T p.(Val136Ile) NC_000001.11:146018273:C:T p.(Val136Ile) NC_000001.11:146018273:C:T Identity +NM_031935.3:c.15366C>A NP_114141.2:p.His5122Gln NC_000001.11:186166229:C:A p.(His5122Gln) NC_000001.11:186166229:C:A p.(His5122Gln) NC_000001.11:186166229:C:A Identity +NM_001291593.2:c.808G>A NP_001278522.1:p.Glu270Lys NC_000001.11:5887423:C:T p.(Glu270Lys) NC_000001.11:5887423:C:T p.(Glu270Lys) NC_000001.11:5887423:C:T Identity +NM_001852.4:c.820G>A NP_001843.1:p.Gly274Ser NC_000001.11:40309963:C:T p.(Gly274Ser) NC_000001.11:40309963:C:T p.(Gly274Ser) NC_000001.11:40309963:C:T Identity +NM_001206846.2:c.1267C>G NP_001193775.1:p.Pro423Ala NC_000001.11:197142984:G:C p.(Pro423Ala) NC_000001.11:197142984:G:C p.(Pro423Ala) NC_000001.11:197142984:G:C Identity +NM_005266.7:c.1057T>G NP_005257.2:p.Ser353Ala NC_000001.11:147758181:A:C p.(Ser353Ala) NC_000001.11:147758181:A:C p.(Ser353Ala) NC_000001.11:147758181:A:C Identity +NM_001852.4:c.185C>T NP_001843.1:p.Pro62Leu NC_000001.11:40314352:G:A p.(Pro62Leu) NC_000001.11:40314352:G:A p.(Pro62Leu) NC_000001.11:40314352:G:A Identity +NM_000350.3:c.140C>T NP_000341.2:p.Pro47Leu NC_000001.11:94112992:G:A p.(Pro47Leu) NC_000001.11:94112992:G:A p.(Pro47Leu) NC_000001.11:94112992:G:A Identity +NM_001323541.2:c.29T>C NP_001310470.1:p.Val10Ala NC_000010.11:101676406:A:G p.(Val10Ala) NC_000010.11:101676406:A:G p.(Val10Ala) NC_000010.11:101676406:A:G Identity +NM_000501.4:c.35G>T NP_000492.2:p.Gly12Val NC_000007.14:74028221:G:T p.(Gly12Val) NC_000007.14:74028221:G:T p.(Gly12Val) NC_000007.14:74028221:G:T Identity +NM_000431.4:c.29C>T NP_000422.1:p.Ala10Val NC_000012.12:109574850:C:T p.(Ala10Val) NC_000012.12:109574850:C:T p.(Ala10Val) NC_000012.12:109574850:C:T Identity +NM_004463.3:c.679del NP_004454.2:p.Ser227fs NC_000023.11:54470437:A: p.(Ser227ArgfsTer133) NC_000023.11:54470437:A: p.(Ser227ArgfsTer133) NC_000023.11:54470437:A: Analogous +NM_001105243.2:c.820_847del NP_001098713.1:p.Val274fs NC_000023.11:100407750:CGTTGACGTAGCCATAGAAGGAGTAGACC:C p.(Val274ThrfsTer22) NC_000023.11:100407750:CGTTGACGTAGCCATAGAAGGAGTAGACC:C p.(Val274ThrfsTer22) NC_000023.11:100407750:CGTTGACGTAGCCATAGAAGGAGTAGAC: Analogous +NM_014918.5:c.2159A>T NP_055733.2:p.Asp720Val NC_000015.10:101177637:T:A p.(Asp720Val) NC_000015.10:101177637:T:A p.(Asp720Val) NC_000015.10:101177637:T:A Identity +NM_007055.4:c.2081G>A NP_008986.2:p.Arg694His NC_000010.11:78004881:C:T p.(Arg694His) NC_000010.11:78004881:C:T p.(Arg694His) NC_000010.11:78004881:C:T Identity +NM_000256.3:c.1991G>T NP_000247.2:p.Gly664Val NC_000011.10:47339726:C:A p.(Gly664Val) NC_000011.10:47339726:C:A p.(Gly664Val) NC_000011.10:47339726:C:A Identity +NM_000277.3:c.442G>C NP_000268.1:p.Gly148Arg NC_000012.12:102866662:C:G p.(Gly148Arg) NC_000012.12:102866662:C:G p.(Gly148Arg) NC_000012.12:102866662:C:G Identity +NM_000742.4:c.787C>T NP_000733.2:p.Arg263Trp NC_000008.11:27463655:G:A p.(Arg263Trp) NC_000008.11:27463655:G:A p.(Arg263Trp) NC_000008.11:27463655:G:A Identity +NM_004519.4:c.101C>A NP_004510.1:p.Ala34Glu NC_000008.11:132480431:G:T p.(Ala34Glu) NC_000008.11:132480431:G:T p.(Ala34Glu) NC_000008.11:132480431:G:T Identity +NM_000495.5:c.1120G>A NP_000486.1:p.Gly374Arg NC_000023.11:108586701:G:A p.(Gly374Arg) NC_000023.11:108586701:G:A p.(Gly374Arg) NC_000023.11:108586701:G:A Identity +NM_006208.3:c.2376T>A NP_006199.2:p.Asn792Lys NC_000006.12:131884994:T:A p.(Asn792Lys) NC_000006.12:131884994:T:A p.(Asn792Lys) NC_000006.12:131884994:T:A Identity +NM_001282625.2:c.62T>C NP_001269554.1:p.Leu21Pro NC_000001.11:156114979:T:C p.(Leu21Pro) NC_000001.11:156114979:T:C p.(Leu21Pro) NC_000001.11:156114979:T:C Identity +NM_001182.5:c.1292C>T NP_001173.2:p.Pro431Leu NC_000005.10:126552045:G:A p.(Pro431Leu) NC_000005.10:126552045:G:A p.(Pro431Leu) NC_000005.10:126552045:G:A Identity +NM_001365276.2:c.9727G>A NP_001352205.1:p.Val3243Met NC_000006.12:32049299:C:T p.(Val3243Met) NC_000006.12:32049299:C:T p.(Val3243Met) NC_000006.12:32049299:C:T Identity +NM_001294335.2:c.1012T>C NP_001281264.1:p.Ser338Pro NC_000001.11:31744267:A:G p.(Ser338Pro) NC_000001.11:31744267:A:G p.(Ser338Pro) NC_000001.11:31744267:A:G Identity +NM_006915.3:c.299dup NP_008846.2:p.Phe101fs NC_000023.11:46853671:T:TT p.(Phe101ValfsTer23) NC_000023.11:46853671:T:TT p.(Phe101ValfsTer23) ERR:SPDI Analogous +NM_001316329.2:c.409A>T NP_001303258.1:p.Asn137Tyr NC_000019.10:53889896:A:T p.(Asn137Tyr) NC_000019.10:53889896:A:T p.(Asn137Tyr) NC_000019.10:53889896:A:T Identity +NM_001101.5:c.583G>A NP_001092.1:p.Glu195Lys NC_000007.14:5528499:C:T p.(Glu195Lys) NC_000007.14:5528499:C:T p.(Glu195Lys) NC_000007.14:5528499:C:T Identity +NM_004958.4:c.5072C>G NP_004949.1:p.Thr1691Arg NC_000001.11:11139361:G:C p.(Thr1691Arg) NC_000001.11:11139361:G:C p.(Thr1691Arg) NC_000001.11:11139361:G:C Identity +NM_000480.3:c.1596T>G NP_000471.1:p.Phe532Leu NC_000011.10:10500096:T:G p.(Phe532Leu) NC_000011.10:10500096:T:G p.(Phe532Leu) NC_000011.10:10500096:T:G Identity +NM_001297764.2:c.866G>A NP_001284693.1:p.Arg289Gln NC_000011.10:17522879:C:T p.(Arg289Gln) NC_000011.10:17522879:C:T p.(Arg289Gln) NC_000011.10:17522879:C:T Identity +NM_000102.4:c.412G>A NP_000093.1:p.Gly138Ser NC_000010.11:102835277:C:T p.(Gly138Ser) NC_000010.11:102835277:C:T p.(Gly138Ser) NC_000010.11:102835277:C:T Identity +NM_003730.6:c.233C>A NP_003721.2:p.Ser78Ter NC_000006.12:166946709:G:T p.(Ser78Ter) NC_000006.12:166946709:G:T p.(Ser78Ter) NC_000006.12:166946709:G:T Identity +NM_001142763.2:c.1658T>G NP_001136235.1:p.Ile553Ser NC_000010.11:54153240:A:C p.(Ile553Ser) NC_000010.11:54153240:A:C p.(Ile553Ser) NC_000010.11:54153240:A:C Identity +NM_001197181.2:c.940A>T NP_001184110.1:p.Thr314Ser NC_000016.10:89935606:A:T p.(Thr314Ser) NC_000016.10:89935606:A:T p.(Thr314Ser) NC_000016.10:89935606:A:T Identity +NM_005419.4:c.948del NP_005410.1:p.Phe316fs NC_000012.12:56351183:AAA:AA p.(Phe316LeufsTer3) NC_000012.12:56351183:AAA:AA p.(Phe316LeufsTer3) NC_000012.12:56351183:A: Analogous +NM_015629.4:c.1110_1117dup NP_056444.3:p.Lys373fs NC_000019.10:54128336:CGGAGATCCGGA:CGGAGATCCGGAGATCCGGA p.(Lys373ArgfsTer9) NC_000019.10:54128336:CGGAGATCCGGA:CGGAGATCCGGAGATCCGGA p.(Lys373ArgfsTer9) ERR:SPDI Analogous +NM_001362949.2:c.728C>G NP_001349878.1:p.Thr243Arg NC_000022.11:33564906:G:C p.(Thr243Arg) NC_000022.11:33564906:G:C p.(Thr243Arg) NC_000022.11:33564906:G:C Identity +NM_006265.3:c.428T>C NP_006256.1:p.Ile143Thr NC_000008.11:116858404:A:G p.(Ile143Thr) NC_000008.11:116858404:A:G p.(Ile143Thr) NC_000008.11:116858404:A:G Identity +NM_001184772.3:c.2548G>A NP_001171701.1:p.Gly850Arg NC_000023.11:130015319:G:A p.(Gly850Arg) NC_000023.11:130015319:G:A p.(Gly850Arg) NC_000023.11:130015319:G:A Identity +NM_001256850.1:c.100597del NP_001243779.1:p.Arg33533fs NC_000002.12:178531094:GGG:GG p.(Arg33533AlafsTer4) NC_000002.12:178531094:GGG:GG p.(Arg33533AlafsTer4) NC_000002.12:178531094:G: Analogous +NM_000360.4:c.244C>G NP_000351.2:p.Leu82Val NC_000011.10:2169717:G:C p.(Leu82Val) NC_000011.10:2169717:G:C p.(Leu82Val) NC_000011.10:2169717:G:C Identity +NM_006755.2:c.706G>A NP_006746.1:p.Ala236Thr NC_000011.10:763814:G:A p.(Ala236Thr) NC_000011.10:763814:G:A p.(Ala236Thr) NC_000011.10:763814:G:A Identity +NM_020638.3:c.457C>G NP_065689.1:p.Pro153Ala NC_000012.12:4370641:G:C p.(Pro153Ala) NC_000012.12:4370641:G:C p.(Pro153Ala) NC_000012.12:4370641:G:C Identity +NM_002547.3:c.148A>G NP_002538.1:p.Met50Val NC_000023.11:68432872:T:C p.(Met50Val) NC_000023.11:68432872:T:C p.(Met50Val) NC_000023.11:68432872:T:C Identity +NM_001006657.2:c.707G>A NP_001006658.1:p.Cys236Tyr NC_000002.12:19974496:C:T p.(Cys236Tyr) NC_000002.12:19974496:C:T p.(Cys236Tyr) NC_000002.12:19974496:C:T Identity +NM_032119.4:c.1608C>A NP_115495.3:p.Tyr536Ter NC_000005.10:90629307:C:A p.(Tyr536Ter) NC_000005.10:90629307:C:A p.(Tyr536Ter) NC_000005.10:90629307:C:A Identity +NM_005898.5:c.1948G>A NP_005889.3:p.Gly650Ser NC_000011.10:34097242:G:A p.(Gly650Ser) NC_000011.10:34097242:G:A p.(Gly650Ser) NC_000011.10:34097242:G:A Identity +NM_001079812.3:c.2874dup NP_001073280.1:p.Arg959fs NC_000005.10:141528818:T:TT p.(Arg959ThrfsTer2) NC_000005.10:141528818:T:TT p.(Arg959ThrfsTer2) ERR:SPDI Analogous +NM_000068.4:c.3530C>G NP_000059.3:p.Ala1177Gly NC_000019.10:13286537:G:C p.(Ala1177Gly) NC_000019.10:13286537:G:C p.(Ala1177Gly) NC_000019.10:13286537:G:C Identity +NM_030943.4:c.206T>A NP_112205.2:p.Met69Lys NC_000014.9:102923977:T:A p.(Met69Lys) NC_000014.9:102923977:T:A p.(Met69Lys) NC_000014.9:102923977:T:A Identity +NM_001097577.3:c.324dup NP_001091046.1:p.Gly109fs NC_000014.9:20693887:T:TT p.(Gly109TrpfsTer24) NC_000014.9:20693887:T:TT p.(Gly109TrpfsTer24) ERR:SPDI Analogous +NM_001035.3:c.10853A>G NP_001026.2:p.Asn3618Ser NC_000001.11:237730273:A:G p.(Asn3618Ser) NC_000001.11:237730273:A:G p.(Asn3618Ser) NC_000001.11:237730273:A:G Identity +NM_001048166.1:c.3491A>T NP_001041631.1:p.Gln1164Leu NC_000001.11:47251511:T:A p.(Gln1164Leu) NC_000001.11:47251511:T:A p.(Gln1164Leu) NC_000001.11:47251511:T:A Identity +NM_006610.4:c.437C>T NP_006601.2:p.Pro146Leu NC_000001.11:11045514:G:A p.(Pro146Leu) NC_000001.11:11045514:G:A p.(Pro146Leu) NC_000001.11:11045514:G:A Identity +NM_000081.4:c.1766A>G NP_000072.2:p.Lys589Arg NC_000001.11:235809051:T:C p.(Lys589Arg) NC_000001.11:235809051:T:C p.(Lys589Arg) NC_000001.11:235809051:T:C Identity +NM_000110.4:c.1228C>T NP_000101.2:p.Arg410Trp NC_000001.11:97573870:G:A p.(Arg410Trp) NC_000001.11:97573870:G:A p.(Arg410Trp) NC_000001.11:97573870:G:A Identity +NM_001288607.2:c.1130C>A NP_001275536.1:p.Ala377Glu NC_000001.11:150554120:C:A p.(Ala377Glu) NC_000001.11:150554120:C:A p.(Ala377Glu) NC_000001.11:150554120:C:A Identity +NM_000350.3:c.6805C>T NP_000341.2:p.Arg2269Ter NC_000001.11:93996119:G:A p.(Arg2269Ter) NC_000001.11:93996119:G:A p.(Arg2269Ter) NC_000001.11:93996119:G:A Identity +NM_001288607.2:c.2194C>T NP_001275536.1:p.Arg732Trp NC_000001.11:150558077:C:T p.(Arg732Trp) NC_000001.11:150558077:C:T p.(Arg732Trp) NC_000001.11:150558077:C:T Identity +NM_031935.3:c.1655C>A NP_114141.2:p.Thr552Asn NC_000001.11:185933650:C:A p.(Thr552Asn) NC_000001.11:185933650:C:A p.(Thr552Asn) NC_000001.11:185933650:C:A Identity +NM_000299.4:c.1805G>A NP_000290.2:p.Arg602His NC_000001.11:201324488:G:A p.(Arg602His) NC_000001.11:201324488:G:A p.(Arg602His) NC_000001.11:201324488:G:A Identity +NM_001177428.1:c.502G>A NP_001170899.1:p.Gly168Arg NC_000012.12:109808352:C:T p.(Gly168Arg) NC_000012.12:109808352:C:T p.(Gly168Arg) NC_000012.12:109808352:C:T Identity +NM_015180.6:c.8890C>T NP_055995.4:p.Arg2964Cys NC_000014.9:64052802:C:T p.(Arg2964Cys) NC_000014.9:64052802:C:T p.(Arg2964Cys) NC_000014.9:64052802:C:T Identity +NM_021044.4:c.656T>G NP_066382.1:p.Leu219Arg NC_000012.12:49090393:A:C p.(Leu219Arg) NC_000012.12:49090393:A:C p.(Leu219Arg) NC_000012.12:49090393:A:C Identity +NM_015180.6:c.20312A>G NP_055995.4:p.Gln6771Arg NC_000014.9:64223378:A:G p.(Gln6771Arg) NC_000014.9:64223378:A:G p.(Gln6771Arg) NC_000014.9:64223378:A:G Identity +NM_001083908.2:c.1568C>T NP_001077377.1:p.Pro523Leu NC_000014.9:49633581:G:A p.(Pro523Leu) NC_000014.9:49633581:G:A p.(Pro523Leu) NC_000014.9:49633581:G:A Identity +NM_207361.6:c.3908C>T NP_997244.4:p.Thr1303Met NC_000013.11:38691251:C:T p.(Thr1303Met) NC_000013.11:38691251:C:T p.(Thr1303Met) NC_000013.11:38691251:C:T Identity +NM_001167614.2:c.1099C>T NP_001161086.1:p.Leu367Phe NC_000012.12:65170694:C:T p.(Leu367Phe) NC_000012.12:65170694:C:T p.(Leu367Phe) NC_000012.12:65170694:C:T Identity +NM_000192.3:c.1135A>T NP_000183.2:p.Met379Leu NC_000012.12:114355953:T:A p.(Met379Leu) NC_000012.12:114355953:T:A p.(Met379Leu) NC_000012.12:114355953:T:A Identity +NM_000217.3:c.212G>A NP_000208.2:p.Arg71His NC_000012.12:4911589:G:A p.(Arg71His) NC_000012.12:4911589:G:A p.(Arg71His) NC_000012.12:4911589:G:A Identity +NM_001083908.2:c.1147G>A NP_001077377.1:p.Ala383Thr NC_000014.9:49634002:C:T p.(Ala383Thr) NC_000014.9:49634002:C:T p.(Ala383Thr) NC_000014.9:49634002:C:T Identity +NM_144508.5:c.2315T>C NP_653091.3:p.Ile772Thr NC_000015.10:40622578:T:C p.(Ile772Thr) NC_000015.10:40622578:T:C p.(Ile772Thr) NC_000015.10:40622578:T:C Identity +NM_001363711.2:c.4409G>A NP_001350640.1:p.Arg1470Gln NC_000015.10:45094677:C:T p.(Arg1470Gln) NC_000015.10:45094677:C:T p.(Arg1470Gln) NC_000015.10:45094677:C:T Identity +NM_001348729.2:c.1047T>G NP_001335658.1:p.Ile349Met NC_000002.12:8796824:A:C p.(Ile349Met) NC_000002.12:8796824:A:C p.(Ile349Met) NC_000002.12:8796824:A:C Identity +NM_000361.3:c.943C>T NP_000352.1:p.Arg315Trp NC_000020.11:23048561:G:A p.(Arg315Trp) NC_000020.11:23048561:G:A p.(Arg315Trp) NC_000020.11:23048561:G:A Identity +NM_001017423.2:c.1387G>A NP_001017423.1:p.Glu463Lys NC_000010.11:95621104:C:T p.(Glu463Lys) NC_000010.11:95621104:C:T p.(Glu463Lys) NC_000010.11:95621104:C:T Identity +NM_001126131.2:c.899C>T NP_001119603.1:p.Ala300Val NC_000015.10:89329066:G:A p.(Ala300Val) NC_000015.10:89329066:G:A p.(Ala300Val) NC_000015.10:89329066:G:A Identity +LRG_664t1:c.1346T>G LRG_664p1:p.Ile449Ser NC_000007.14:45076004:T:G ERR:Data provider error: ValueError: Transcript LRG_664t1 not found ERR:Data provider error: ValueError: Transcript LRG_664t1 not found ERR:AlignmentMapper(tx_ac=LRG_664t1, alt_ac=LRG_664t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_664t1, alt_ac=LRG_664t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_664t1 not found +NM_003995.4:c.748del NP_003986.2:p.Tyr250fs NC_000009.12:35793976:TT:T p.(Tyr250MetfsTer46) NC_000009.12:35793976:TT:T p.(Tyr250MetfsTer46) NC_000009.12:35793977:T: Analogous +NM_001347701.2:c.130C>T NP_001334630.1:p.Arg44Ter NC_000006.12:152176496:G:A p.(Arg44Ter) NC_000006.12:152176496:G:A p.(Arg44Ter) NC_000006.12:152176496:G:A Identity +NM_006295.3:c.3622C>T NP_006286.1:p.Arg1208Ter NC_000006.12:31779070:G:A p.(Arg1208Ter) NC_000006.12:31779070:G:A p.(Arg1208Ter) NC_000006.12:31779070:G:A Identity +NM_001033604.2:c.1540A>G NP_001028776.1:p.Thr514Ala NC_000007.14:33357946:A:G p.(Thr514Ala) NC_000007.14:33357946:A:G p.(Thr514Ala) NC_000007.14:33357946:A:G Identity +NM_001127505.3:c.166G>C NP_001120977.1:p.Gly56Arg NC_000008.11:18075547:C:G p.(Gly56Arg) NC_000008.11:18075547:C:G p.(Gly56Arg) NC_000008.11:18075547:C:G Identity +NM_004565.3:c.888G>T NP_004556.1:p.Gln296His NC_000001.11:10629740:G:T p.(Gln296His) NC_000001.11:10629740:G:T p.(Gln296His) NC_000001.11:10629740:G:T Identity +NM_000488.4:c.47T>C NP_000479.1:p.Val16Ala NC_000001.11:173914913:A:G p.(Val16Ala) NC_000001.11:173914913:A:G p.(Val16Ala) NC_000001.11:173914913:A:G Identity +NM_001363850.1:c.734A>G NP_001350779.1:p.Tyr245Cys NC_000016.10:89526443:A:G p.(Tyr245Cys) NC_000016.10:89526443:A:G p.(Tyr245Cys) NC_000016.10:89526443:A:G Identity +NM_015346.4:c.5787G>T NP_056161.2:p.Glu1929Asp NC_000014.9:67767706:C:A p.(Glu1929Asp) NC_000014.9:67767706:C:A p.(Glu1929Asp) NC_000014.9:67767706:C:A Identity +NM_001039958.2:c.682G>A NP_001035047.1:p.Gly228Arg NC_000015.10:89777038:G:A p.(Gly228Arg) NC_000015.10:89777038:G:A p.(Gly228Arg) NC_000015.10:89777038:G:A Identity +NM_001206846.2:c.2042C>T NP_001193775.1:p.Pro681Leu NC_000001.11:197135226:G:A p.(Pro681Leu) NC_000001.11:197135226:G:A p.(Pro681Leu) NC_000001.11:197135226:G:A Identity +NM_001197104.2:c.6142T>G NP_001184033.1:p.Phe2048Val NC_000011.10:118499896:T:G p.(Phe2048Val) NC_000011.10:118499896:T:G p.(Phe2048Val) NC_000011.10:118499896:T:G Identity +NM_000261.2:c.878C>A NP_000252.1:p.Thr293Lys NC_000001.11:171636561:G:T p.(Thr293Lys) NC_000001.11:171636561:G:T p.(Thr293Lys) NC_000001.11:171636561:G:T Identity +NM_000494.4:c.898A>G NP_000485.3:p.Thr300Ala NC_000010.11:104062269:T:C p.(Thr300Ala) NC_000010.11:104062269:T:C p.(Thr300Ala) NC_000010.11:104062269:T:C Identity +NM_001368265.1:c.233T>G NP_001355194.1:p.Val78Gly NC_000010.11:25954937:T:G p.(Val78Gly) NC_000010.11:25954937:T:G p.(Val78Gly) NC_000010.11:25954937:T:G Identity +NM_022370.4:c.1808G>A NP_071765.2:p.Arg603His NC_000011.10:124874092:G:A p.(Arg603His) NC_000011.10:124874092:G:A p.(Arg603His) NC_000011.10:124874092:G:A Identity +NM_000448.3:c.486T>A NP_000439.2:p.Asp162Glu NC_000011.10:36573789:T:A p.(Asp162Glu) NC_000011.10:36573789:T:A p.(Asp162Glu) NC_000011.10:36573789:T:A Identity +NM_000375.3:c.169G>A NP_000366.1:p.Gly57Arg NC_000010.11:125815108:C:T p.(Gly57Arg) NC_000010.11:125815108:C:T p.(Gly57Arg) NC_000010.11:125815108:C:T Identity +NM_002900.3:c.2497C>A NP_002891.1:p.Arg833Ser NC_000010.11:47350980:C:A p.(Arg833Ser) NC_000010.11:47350980:C:A p.(Arg833Ser) NC_000010.11:47350980:C:A Identity +NM_001017423.2:c.1734C>G NP_001017423.1:p.Ser578Arg NC_000010.11:95614026:G:C p.(Ser578Arg) NC_000010.11:95614026:G:C p.(Ser578Arg) NC_000010.11:95614026:G:C Identity +LRG_385t2:c.677G>A LRG_385p2:p.Arg226His NC_000010.11:86692023:G:A ERR:Data provider error: ValueError: Transcript LRG_385t2 not found ERR:Data provider error: ValueError: Transcript LRG_385t2 not found ERR:AlignmentMapper(tx_ac=LRG_385t2, alt_ac=LRG_385t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_385t2, alt_ac=LRG_385t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_385t2 not found +NM_014384.3:c.1147G>A NP_055199.1:p.Ala383Thr NC_000011.10:134262573:G:A p.(Ala383Thr) NC_000011.10:134262573:G:A p.(Ala383Thr) NC_000011.10:134262573:G:A Identity +NM_000017.4:c.508G>T NP_000008.1:p.Ala170Ser NC_000012.12:120737871:G:T p.(Ala170Ser) NC_000012.12:120737871:G:T p.(Ala170Ser) NC_000012.12:120737871:G:T Identity +LRG_247t1:c.5294G>C LRG_247p1:p.Gly1765Ala NC_000012.12:887233:G:C ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_247t1 not found +NM_001288607.2:c.1000C>G NP_001275536.1:p.His334Asp NC_000001.11:150553990:C:G p.(His334Asp) NC_000001.11:150553990:C:G p.(His334Asp) NC_000001.11:150553990:C:G Identity +NM_006610.4:c.446C>T NP_006601.2:p.Ala149Val NC_000001.11:11045505:G:A p.(Ala149Val) NC_000001.11:11045505:G:A p.(Ala149Val) NC_000001.11:11045505:G:A Identity +NM_000098.3:c.91C>T NP_000089.1:p.Pro31Ser NC_000001.11:53197033:C:T p.(Pro31Ser) NC_000001.11:53197033:C:T p.(Pro31Ser) NC_000001.11:53197033:C:T Identity +NM_000299.4:c.919G>T NP_000290.2:p.Ala307Ser NC_000001.11:201317643:G:T p.(Ala307Ser) NC_000001.11:201317643:G:T p.(Ala307Ser) NC_000001.11:201317643:G:T Identity +NM_001329090.2:c.1259G>A NP_001316019.1:p.Arg420His NC_000001.11:16135661:C:T p.(Arg420His) NC_000001.11:16135661:C:T p.(Arg420His) NC_000001.11:16135661:C:T Identity +NM_003126.4:c.3109G>A NP_003117.2:p.Asp1037Asn NC_000001.11:158653352:C:T p.(Asp1037Asn) NC_000001.11:158653352:C:T p.(Asp1037Asn) NC_000001.11:158653352:C:T Identity +NM_000702.4:c.2015C>T NP_000693.1:p.Ser672Leu NC_000001.11:160135194:C:T p.(Ser672Leu) NC_000001.11:160135194:C:T p.(Ser672Leu) NC_000001.11:160135194:C:T Identity +NM_007272.3:c.485G>A NP_009203.2:p.Arg162His NC_000001.11:15443546:G:A p.(Arg162His) NC_000001.11:15443546:G:A p.(Arg162His) NC_000001.11:15443546:G:A Identity +NM_031935.3:c.11797A>T NP_114141.2:p.Asn3933Tyr NC_000001.11:186117571:A:T p.(Asn3933Tyr) NC_000001.11:186117571:A:T p.(Asn3933Tyr) NC_000001.11:186117571:A:T Identity +NM_001291860.2:c.10099C>T NP_001278789.1:p.Arg3367Trp NC_000001.11:21838878:G:A p.(Arg3367Trp) NC_000001.11:21838878:G:A p.(Arg3367Trp) NC_000001.11:21838878:G:A Identity +NM_198578.4:c.1655G>A NP_940980.4:p.Arg552Lys NC_000012.12:40263899:G:A p.(Arg552Lys) NC_000012.12:40263899:G:A p.(Arg552Lys) NC_000012.12:40263899:G:A Identity +NM_198578.4:c.5828G>A NP_940980.4:p.Arg1943Gln NC_000012.12:40335036:G:A p.(Arg1943Gln) NC_000012.12:40335036:G:A p.(Arg1943Gln) NC_000012.12:40335036:G:A Identity +NM_001177431.1:c.710G>A NP_001170902.1:p.Arg237His NC_000012.12:109800658:C:T p.(Arg237His) NC_000012.12:109800658:C:T p.(Arg237His) NC_000012.12:109800658:C:T Identity +NM_005691.4:c.4519G>T NP_005682.2:p.Val1507Phe NC_000012.12:21805304:C:A p.(Val1507Phe) NC_000012.12:21805304:C:A p.(Val1507Phe) NC_000012.12:21805304:C:A Identity +NM_000431.4:c.178C>T NP_000422.1:p.Arg60Trp NC_000012.12:109576096:C:T p.(Arg60Trp) NC_000012.12:109576096:C:T p.(Arg60Trp) NC_000012.12:109576096:C:T Identity +NM_000260.4:c.5018T>A NP_000251.3:p.Val1673Asp NC_000011.10:77201612:T:A p.(Val1673Asp) NC_000011.10:77201612:T:A p.(Val1673Asp) NC_000011.10:77201612:T:A Identity +NM_001082537.3:c.343G>A NP_001076006.1:p.Gly115Ser NC_000012.12:110626362:G:A p.(Gly115Ser) NC_000012.12:110626362:G:A p.(Gly115Ser) NC_000012.12:110626362:G:A Identity +NM_000137.4:c.89C>T NP_000128.1:p.Pro30Leu NC_000015.10:80158066:C:T p.(Pro30Leu) NC_000015.10:80158066:C:T p.(Pro30Leu) NC_000015.10:80158066:C:T Identity +NM_000350.3:c.5018T>C NP_000341.2:p.Val1673Ala NC_000001.11:94021239:A:G p.(Val1673Ala) NC_000001.11:94021239:A:G p.(Val1673Ala) NC_000001.11:94021239:A:G Identity +NM_000186.4:c.33G>T NP_000177.2:p.Met11Ile NC_000001.11:196652149:G:T p.(Met11Ile) NC_000001.11:196652149:G:T p.(Met11Ile) NC_000001.11:196652149:G:T Identity +NM_020312.4:c.679A>G NP_064708.1:p.Met227Val NC_000016.10:57458317:A:G p.(Met227Val) NC_000016.10:57458317:A:G p.(Met227Val) NC_000016.10:57458317:A:G Identity +NM_001048166.1:c.460C>A NP_001041631.1:p.Gln154Lys NC_000001.11:47300145:G:T p.(Gln154Lys) NC_000001.11:47300145:G:T p.(Gln154Lys) NC_000001.11:47300145:G:T Identity +NM_000494.4:c.1751G>A NP_000485.3:p.Arg584Gln NC_000010.11:104054111:C:T p.(Arg584Gln) NC_000010.11:104054111:C:T p.(Arg584Gln) NC_000010.11:104054111:C:T Identity +NM_001080463.2:c.2828A>G NP_001073932.1:p.His943Arg NC_000011.10:103148498:A:G p.(His943Arg) NC_000011.10:103148498:A:G p.(His943Arg) NC_000011.10:103148498:A:G Identity +NM_032444.4:c.3068C>A NP_115820.2:p.Ala1023Asp NC_000016.10:3590569:G:T p.(Ala1023Asp) NC_000016.10:3590569:G:T p.(Ala1023Asp) NC_000016.10:3590569:G:T Identity +NM_001289148.1:c.427C>A NP_001276077.1:p.Gln143Lys NC_000015.10:91007563:G:T p.(Gln143Lys) NC_000015.10:91007563:G:T p.(Gln143Lys) NC_000015.10:91007563:G:T Identity +NM_053054.4:c.1457T>A NP_444282.3:p.Ile486Lys NC_000011.10:66021851:A:T p.(Ile486Lys) NC_000011.10:66021851:A:T p.(Ile486Lys) NC_000011.10:66021851:A:T Identity +NM_000039.3:c.677C>T NP_000030.1:p.Thr226Met NC_000011.10:116835934:G:A p.(Thr226Met) NC_000011.10:116835934:G:A p.(Thr226Met) NC_000011.10:116835934:G:A Identity +NM_001407240.1:c.1856T>A NP_001394169.1:p.Val619Glu NC_000001.11:55061425:T:A p.(Val619Glu) NC_000001.11:55061425:T:A p.(Val619Glu) NC_000001.11:55061425:T:A Identity +NM_001329090.2:c.800C>T NP_001316019.1:p.Ala267Val NC_000001.11:16138291:G:A p.(Ala267Val) NC_000001.11:16138291:G:A p.(Ala267Val) NC_000001.11:16138291:G:A Identity +NM_001190818.2:c.1196G>A NP_001177747.1:p.Gly399Asp NC_000001.11:52388628:C:T p.(Gly399Asp) NC_000001.11:52388628:C:T p.(Gly399Asp) NC_000001.11:52388628:C:T Identity +NM_001368911.2:c.1435T>G NP_001355840.1:p.Leu479Val NC_000011.10:31789661:A:C p.(Leu479Val) NC_000011.10:31789661:A:C p.(Leu479Val) NC_000011.10:31789661:A:C Identity +NM_001008211.1:c.867G>C NP_001008212.1:p.Glu289Asp NC_000010.11:13122471:G:C p.(Glu289Asp) NC_000010.11:13122471:G:C p.(Glu289Asp) NC_000010.11:13122471:G:C Identity +NM_053054.4:c.1270T>C NP_444282.3:p.Trp424Arg NC_000011.10:66023007:A:G p.(Trp424Arg) NC_000011.10:66023007:A:G p.(Trp424Arg) NC_000011.10:66023007:A:G Identity +NM_001080463.2:c.4718A>C NP_001073932.1:p.Gln1573Pro NC_000011.10:103166003:A:C p.(Gln1573Pro) NC_000011.10:103166003:A:C p.(Gln1573Pro) NC_000011.10:103166003:A:C Identity +NM_002334.4:c.2482A>G NP_002325.2:p.Asn828Asp NC_000011.10:46886114:T:C p.(Asn828Asp) NC_000011.10:46886114:T:C p.(Asn828Asp) NC_000011.10:46886114:T:C Identity +NM_001081.4:c.4633A>C NP_001072.2:p.Asn1545His NC_000010.11:16982545:T:G p.(Asn1545His) NC_000010.11:16982545:T:G p.(Asn1545His) NC_000010.11:16982545:T:G Identity +NM_003373.4:c.1472T>C NP_003364.1:p.Val491Ala NC_000010.11:74094389:T:C p.(Val491Ala) NC_000010.11:74094389:T:C p.(Val491Ala) NC_000010.11:74094389:T:C Identity +NM_001252020.2:c.4745T>C NP_001238949.1:p.Leu1582Ser NC_000015.10:31002005:A:G p.(Leu1582Ser) NC_000015.10:31002005:A:G p.(Leu1582Ser) NC_000015.10:31002005:A:G Identity +NM_000352.6:c.4366A>G NP_000343.2:p.Ile1456Val NC_000011.10:17395216:T:C p.(Ile1456Val) NC_000011.10:17395216:T:C p.(Ile1456Val) NC_000011.10:17395216:T:C Identity +NM_000242.3:c.109G>T NP_000233.1:p.Ala37Ser NC_000010.11:52771526:C:A p.(Ala37Ser) NC_000010.11:52771526:C:A p.(Ala37Ser) NC_000010.11:52771526:C:A Identity +NM_005445.4:c.929A>G NP_005436.1:p.Lys310Arg NC_000010.11:110583507:A:G p.(Lys310Arg) NC_000010.11:110583507:A:G p.(Lys310Arg) NC_000010.11:110583507:A:G Identity +NM_002900.3:c.1294G>C NP_002891.1:p.Val432Leu NC_000010.11:47349777:G:C p.(Val432Leu) NC_000010.11:47349777:G:C p.(Val432Leu) NC_000010.11:47349777:G:C Identity +NM_001081.4:c.10742C>T NP_001072.2:p.Ser3581Phe NC_000010.11:16828826:G:A p.(Ser3581Phe) NC_000010.11:16828826:G:A p.(Ser3581Phe) NC_000010.11:16828826:G:A Identity +NM_000274.4:c.1261A>G NP_000265.1:p.Lys421Glu NC_000010.11:124398000:T:C p.(Lys421Glu) NC_000010.11:124398000:T:C p.(Lys421Glu) NC_000010.11:124398000:T:C Identity +NM_001288989.2:c.713T>C NP_001275918.1:p.Met238Thr NC_000010.11:94031758:T:C p.(Met238Thr) NC_000010.11:94031758:T:C p.(Met238Thr) NC_000010.11:94031758:T:C Identity +NM_006204.4:c.413T>C NP_006195.3:p.Leu138Ser NC_000010.11:93613137:T:C p.(Leu138Ser) NC_000010.11:93613137:T:C p.(Leu138Ser) NC_000010.11:93613137:T:C Identity +NM_025114.4:c.3709C>T NP_079390.3:p.Arg1237Cys NC_000012.12:88089351:G:A p.(Arg1237Cys) NC_000012.12:88089351:G:A p.(Arg1237Cys) NC_000012.12:88089351:G:A Identity +NM_001142294.2:c.123A>C NP_001135766.1:p.Glu41Asp NC_000013.11:36335707:T:G p.(Glu41Asp) NC_000013.11:36335707:T:G p.(Glu41Asp) NC_000013.11:36335707:T:G Identity +NM_001126105.3:c.1012G>A NP_001119577.1:p.Gly338Ser NC_000014.9:22775526:C:T p.(Gly338Ser) NC_000014.9:22775526:C:T p.(Gly338Ser) NC_000014.9:22775526:C:T Identity +NM_001145307.5:c.230A>G NP_001138779.1:p.His77Arg NC_000011.10:72093642:A:G p.(His77Arg) NC_000011.10:72093642:A:G p.(His77Arg) NC_000011.10:72093642:A:G Identity +NM_000123.4:c.76A>G NP_000114.3:p.Ile26Val NC_000013.11:102846341:A:G p.(Ile26Val) NC_000013.11:102846341:A:G p.(Ile26Val) NC_000013.11:102846341:A:G Identity +NM_025152.3:c.71C>T NP_079428.2:p.Pro24Leu NC_000014.9:31561509:C:T p.(Pro24Leu) NC_000014.9:31561509:C:T p.(Pro24Leu) NC_000014.9:31561509:C:T Identity +NM_018451.5:c.3159G>T NP_060921.3:p.Trp1053Cys NC_000013.11:24892699:C:A p.(Trp1053Cys) NC_000013.11:24892699:C:A p.(Trp1053Cys) NC_000013.11:24892699:C:A Identity +NM_015180.6:c.11956G>A NP_055995.4:p.Glu3986Lys NC_000014.9:64091027:G:A p.(Glu3986Lys) NC_000014.9:64091027:G:A p.(Glu3986Lys) NC_000014.9:64091027:G:A Identity +NM_001845.6:c.4928A>G NP_001836.3:p.Lys1643Arg NC_000013.11:110152333:T:C p.(Lys1643Arg) NC_000013.11:110152333:T:C p.(Lys1643Arg) NC_000013.11:110152333:T:C Identity +NM_001278055.2:c.7547C>T NP_001264984.1:p.Pro2516Leu NC_000013.11:23335887:G:A p.(Pro2516Leu) NC_000013.11:23335887:G:A p.(Pro2516Leu) NC_000013.11:23335887:G:A Identity +NM_001005242.3:c.1602A>T NP_001005242.2:p.Arg534Ser NC_000012.12:32824116:T:A p.(Arg534Ser) NC_000012.12:32824116:T:A p.(Arg534Ser) NC_000012.12:32824116:T:A Identity +NM_001145288.2:c.1181G>T NP_001138760.1:p.Arg394Leu NC_000012.12:100418061:G:T p.(Arg394Leu) NC_000012.12:100418061:G:T p.(Arg394Leu) NC_000012.12:100418061:G:T Identity +NM_052845.4:c.68G>A NP_443077.1:p.Gly23Asp NC_000012.12:109573412:C:T p.(Gly23Asp) NC_000012.12:109573412:C:T p.(Gly23Asp) NC_000012.12:109573412:C:T Identity +NM_001330343.2:c.539G>A NP_001317272.1:p.Arg180Gln NC_000012.12:8604311:C:T p.(Arg180Gln) NC_000012.12:8604311:C:T p.(Arg180Gln) NC_000012.12:8604311:C:T Identity +NM_000359.3:c.719G>A NP_000350.1:p.Arg240His NC_000014.9:24260487:C:T p.(Arg240His) NC_000014.9:24260487:C:T p.(Arg240His) NC_000014.9:24260487:C:T Identity +NM_001110219.3:c.311G>A NP_001103689.1:p.Arg104His NC_000013.11:20223169:C:T p.(Arg104His) NC_000013.11:20223169:C:T p.(Arg104His) NC_000013.11:20223169:C:T Identity +NM_032444.4:c.244A>G NP_115820.2:p.Asn82Asp NC_000016.10:3608720:T:C p.(Asn82Asp) NC_000016.10:3608720:T:C p.(Asn82Asp) NC_000016.10:3608720:T:C Identity +NM_014321.4:c.592C>T NP_055136.1:p.Arg198Trp NC_000016.10:46696045:C:T p.(Arg198Trp) NC_000016.10:46696045:C:T p.(Arg198Trp) NC_000016.10:46696045:C:T Identity +NM_021615.5:c.7C>A NP_067628.1:p.Leu3Met NC_000016.10:75479821:G:T p.(Leu3Met) NC_000016.10:75479821:G:T p.(Leu3Met) NC_000016.10:75479821:G:T Identity +NM_001384158.1:c.1364G>A NP_001371087.1:p.Arg455Gln NC_000014.9:91870329:C:T p.(Arg455Gln) NC_000014.9:91870329:C:T p.(Arg455Gln) NC_000014.9:91870329:C:T Identity +NM_000135.4:c.1408C>G NP_000126.2:p.Leu470Val NC_000016.10:89784915:G:C p.(Leu470Val) NC_000016.10:89784915:G:C p.(Leu470Val) NC_000016.10:89784915:G:C Identity +NM_000070.3:c.2058C>G NP_000061.1:p.Asp686Glu NC_000015.10:42409937:C:G p.(Asp686Glu) NC_000015.10:42409937:C:G p.(Asp686Glu) NC_000015.10:42409937:C:G Identity +NM_000423.3:c.1147G>A NP_000414.2:p.Gly383Arg NC_000012.12:52647830:C:T p.(Gly383Arg) NC_000012.12:52647830:C:T p.(Gly383Arg) NC_000012.12:52647830:C:T Identity +NM_000059.4:c.844C>G NP_000050.3:p.His282Asp NC_000013.11:32332321:C:G p.(His282Asp) NC_000013.11:32332321:C:G p.(His282Asp) NC_000013.11:32332321:C:G Identity +NM_001191060.2:c.959A>G NP_001177989.1:p.Asp320Gly NC_000011.10:791927:T:C p.(Asp320Gly) NC_000011.10:791927:T:C p.(Asp320Gly) NC_000011.10:791927:T:C Identity +NM_001145288.2:c.110A>G NP_001138760.1:p.Asp37Gly NC_000012.12:100380708:A:G p.(Asp37Gly) NC_000012.12:100380708:A:G p.(Asp37Gly) NC_000012.12:100380708:A:G Identity +NM_001376.5:c.13151C>T NP_001367.2:p.Ala4384Val NC_000014.9:102047960:C:T p.(Ala4384Val) NC_000014.9:102047960:C:T p.(Ala4384Val) NC_000014.9:102047960:C:T Identity +NM_032444.4:c.2077G>A NP_115820.2:p.Val693Ile NC_000016.10:3594535:C:T p.(Val693Ile) NC_000016.10:3594535:C:T p.(Val693Ile) NC_000016.10:3594535:C:T Identity +NM_173500.4:c.1499G>T NP_775771.3:p.Arg500Leu NC_000015.10:42775633:C:A p.(Arg500Leu) NC_000015.10:42775633:C:A p.(Arg500Leu) NC_000015.10:42775633:C:A Identity +NM_002472.3:c.1150G>A NP_002463.2:p.Ala384Thr NC_000017.11:10412725:C:T p.(Ala384Thr) NC_000017.11:10412725:C:T p.(Ala384Thr) NC_000017.11:10412725:C:T Identity +NM_001160227.2:c.3148C>T NP_001153699.1:p.Pro1050Ser NC_000015.10:44610982:G:A p.(Pro1050Ser) NC_000015.10:44610982:G:A p.(Pro1050Ser) NC_000015.10:44610982:G:A Identity +NM_000138.5:c.5429A>T NP_000129.3:p.Asp1810Val NC_000015.10:48452677:T:A p.(Asp1810Val) NC_000015.10:48452677:T:A p.(Asp1810Val) NC_000015.10:48452677:T:A Identity +NM_001113378.2:c.3443T>G NP_001106849.1:p.Leu1148Arg NC_000015.10:89306099:T:G p.(Leu1148Arg) NC_000015.10:89306099:T:G p.(Leu1148Arg) NC_000015.10:89306099:T:G Identity +NM_001145770.3:c.685G>A NP_001139242.1:p.Glu229Lys NC_000016.10:57654049:G:A p.(Glu229Lys) NC_000016.10:57654049:G:A p.(Glu229Lys) NC_000016.10:57654049:G:A Identity +NM_001089.3:c.1960C>G NP_001080.2:p.Leu654Val NC_000016.10:2297857:G:C p.(Leu654Val) NC_000016.10:2297857:G:C p.(Leu654Val) NC_000016.10:2297857:G:C Identity +NM_001142275.1:c.17T>C NP_001135747.1:p.Ile6Thr NC_000015.10:22812177:T:C p.(Ile6Thr) NC_000015.10:22812177:T:C p.(Ile6Thr) NC_000015.10:22812177:T:C Identity +NM_001127897.4:c.639C>A NP_001121369.1:p.Asn213Lys NC_000016.10:53686569:G:T p.(Asn213Lys) NC_000016.10:53686569:G:T p.(Asn213Lys) NC_000016.10:53686569:G:T Identity +NM_032444.4:c.4892C>T NP_115820.2:p.Ser1631Phe NC_000016.10:3583357:G:A p.(Ser1631Phe) NC_000016.10:3583357:G:A p.(Ser1631Phe) NC_000016.10:3583357:G:A Identity +NM_032444.4:c.3872C>T NP_115820.2:p.Thr1291Met NC_000016.10:3589765:G:A p.(Thr1291Met) NC_000016.10:3589765:G:A p.(Thr1291Met) NC_000016.10:3589765:G:A Identity +NM_015346.4:c.3973C>T NP_056161.2:p.Pro1325Ser NC_000014.9:67783178:G:A p.(Pro1325Ser) NC_000014.9:67783178:G:A p.(Pro1325Ser) NC_000014.9:67783178:G:A Identity +NM_001142617.2:c.608A>G NP_001136089.1:p.Tyr203Cys NC_000015.10:74193911:T:C p.(Tyr203Cys) NC_000015.10:74193911:T:C p.(Tyr203Cys) NC_000015.10:74193911:T:C Identity +NM_001145770.3:c.1646G>A NP_001139242.1:p.Gly549Asp NC_000016.10:57660857:G:A p.(Gly549Asp) NC_000016.10:57660857:G:A p.(Gly549Asp) NC_000016.10:57660857:G:A Identity +NM_001278593.2:c.151T>C NP_001265522.1:p.Ser51Pro NC_000014.9:74072571:A:G p.(Ser51Pro) NC_000014.9:74072571:A:G p.(Ser51Pro) NC_000014.9:74072571:A:G Identity +NM_001363711.2:c.959T>C NP_001350640.1:p.Leu320Pro NC_000015.10:45110508:A:G p.(Leu320Pro) NC_000015.10:45110508:A:G p.(Leu320Pro) NC_000015.10:45110508:A:G Identity +NM_015346.4:c.3932G>A NP_056161.2:p.Arg1311His NC_000014.9:67783219:C:T p.(Arg1311His) NC_000014.9:67783219:C:T p.(Arg1311His) NC_000014.9:67783219:C:T Identity +NM_001113378.2:c.1052A>T NP_001106849.1:p.Gln351Leu NC_000015.10:89274243:A:T p.(Gln351Leu) NC_000015.10:89274243:A:T p.(Gln351Leu) NC_000015.10:89274243:A:T Identity +NM_001114331.3:c.766C>T NP_001107803.1:p.Arg256Cys NC_000016.10:1456190:G:A p.(Arg256Cys) NC_000016.10:1456190:G:A p.(Arg256Cys) NC_000016.10:1456190:G:A Identity +NM_139057.4:c.3164C>T NP_620688.2:p.Thr1055Met NC_000015.10:99974525:G:A p.(Thr1055Met) NC_000015.10:99974525:G:A p.(Thr1055Met) NC_000015.10:99974525:G:A Identity +NM_139057.4:c.2431G>C NP_620688.2:p.Gly811Arg NC_000015.10:100051595:C:G p.(Gly811Arg) NC_000015.10:100051595:C:G p.(Gly811Arg) NC_000015.10:100051595:C:G Identity +NM_002472.3:c.4147A>G NP_002463.2:p.Ile1383Val NC_000017.11:10398474:T:C p.(Ile1383Val) NC_000017.11:10398474:T:C p.(Ile1383Val) NC_000017.11:10398474:T:C Identity +NM_000119.3:c.950G>A NP_000110.2:p.Arg317His NC_000015.10:43208747:C:T p.(Arg317His) NC_000015.10:43208747:C:T p.(Arg317His) NC_000015.10:43208747:C:T Identity +NM_000339.3:c.1513C>A NP_000330.3:p.Pro505Thr NC_000016.10:56880198:C:A p.(Pro505Thr) NC_000016.10:56880198:C:A p.(Pro505Thr) NC_000016.10:56880198:C:A Identity +NM_004245.4:c.263A>G NP_004236.1:p.Gln88Arg NC_000015.10:43256613:T:C p.(Gln88Arg) NC_000015.10:43256613:T:C p.(Gln88Arg) NC_000015.10:43256613:T:C Identity +NM_001040113.2:c.5176A>C NP_001035202.1:p.Ser1726Arg NC_000016.10:15719235:T:G p.(Ser1726Arg) NC_000016.10:15719235:T:G p.(Ser1726Arg) NC_000016.10:15719235:T:G Identity +NM_153603.4:c.386A>G NP_705831.1:p.Asp129Gly NC_000016.10:23445096:T:C p.(Asp129Gly) NC_000016.10:23445096:T:C p.(Asp129Gly) NC_000016.10:23445096:T:C Identity +NM_000236.3:c.403C>T NP_000227.2:p.Arg135Cys NC_000015.10:58541913:C:T p.(Arg135Cys) NC_000015.10:58541913:C:T p.(Arg135Cys) NC_000015.10:58541913:C:T Identity +NM_001289156.2:c.752A>G NP_001276085.1:p.Lys251Arg NC_000015.10:74897067:A:G p.(Lys251Arg) NC_000015.10:74897067:A:G p.(Lys251Arg) NC_000015.10:74897067:A:G Identity +NM_003331.5:c.370C>T NP_003322.3:p.Arg124Cys NC_000019.10:10368149:G:A p.(Arg124Cys) NC_000019.10:10368149:G:A p.(Arg124Cys) NC_000019.10:10368149:G:A Identity +NM_002470.4:c.5231A>G NP_002461.2:p.Asp1744Gly NC_000017.11:10631665:T:C p.(Asp1744Gly) NC_000017.11:10631665:T:C p.(Asp1744Gly) NC_000017.11:10631665:T:C Identity +NM_015346.4:c.6905A>G NP_056161.2:p.Tyr2302Cys NC_000014.9:67755131:T:C p.(Tyr2302Cys) NC_000014.9:67755131:T:C p.(Tyr2302Cys) NC_000014.9:67755131:T:C Identity +NM_001004334.4:c.4073T>G NP_001004334.3:p.Val1358Gly NC_000017.11:38329495:A:C p.(Val1358Gly) NC_000017.11:38329495:A:C p.(Val1358Gly) NC_000017.11:38329495:A:C Identity +NM_001080467.3:c.5269G>A NP_001073936.1:p.Ala1757Thr NC_000018.10:49836754:C:T p.(Ala1757Thr) NC_000018.10:49836754:C:T p.(Ala1757Thr) NC_000018.10:49836754:C:T Identity +NM_000527.5:c.121T>A NP_000518.1:p.Ser41Thr NC_000019.10:11100275:T:A p.(Ser41Thr) NC_000019.10:11100275:T:A p.(Ser41Thr) NC_000019.10:11100275:T:A Identity +NM_000342.4:c.697C>T NP_000333.1:p.Arg233Cys NC_000017.11:44259341:G:A p.(Arg233Cys) NC_000017.11:44259341:G:A p.(Arg233Cys) NC_000017.11:44259341:G:A Identity +NM_016239.4:c.4507G>T NP_057323.3:p.Val1503Leu NC_000017.11:18135734:G:T p.(Val1503Leu) NC_000017.11:18135734:G:T p.(Val1503Leu) NC_000017.11:18135734:G:T Identity +NM_000515.5:c.124C>T NP_000506.2:p.Arg42Cys NC_000017.11:63918392:G:A p.(Arg42Cys) NC_000017.11:63918392:G:A p.(Arg42Cys) NC_000017.11:63918392:G:A Identity +NM_002470.4:c.509G>A NP_002461.2:p.Arg170His NC_000017.11:10650397:C:T p.(Arg170His) NC_000017.11:10650397:C:T p.(Arg170His) NC_000017.11:10650397:C:T Identity +NM_182894.3:c.505G>A NP_878314.1:p.Glu169Lys NC_000014.9:74245213:G:A p.(Glu169Lys) NC_000014.9:74245213:G:A p.(Glu169Lys) NC_000014.9:74245213:G:A Identity +NM_138477.4:c.701G>A NP_612486.2:p.Ser234Asn NC_000015.10:42735946:C:T p.(Ser234Asn) NC_000015.10:42735946:C:T p.(Ser234Asn) NC_000015.10:42735946:C:T Identity +NM_001004334.4:c.6169G>A NP_001004334.3:p.Val2057Met NC_000017.11:38327399:C:T p.(Val2057Met) NC_000017.11:38327399:C:T p.(Val2057Met) NC_000017.11:38327399:C:T Identity +NM_003331.5:c.1444C>T NP_003322.3:p.Arg482Cys NC_000019.10:10362580:G:A p.(Arg482Cys) NC_000019.10:10362580:G:A p.(Arg482Cys) NC_000019.10:10362580:G:A Identity +NM_006445.4:c.3305C>A NP_006436.3:p.Thr1102Lys NC_000017.11:1673886:G:T p.(Thr1102Lys) NC_000017.11:1673886:G:T p.(Thr1102Lys) NC_000017.11:1673886:G:T Identity +NM_001321299.2:c.1673C>T NP_001308228.1:p.Pro558Leu NC_000017.11:42795101:C:T p.(Pro558Leu) NC_000017.11:42795101:C:T p.(Pro558Leu) NC_000017.11:42795101:C:T Identity +NM_000435.3:c.3751G>C NP_000426.2:p.Glu1251Gln NC_000019.10:15178908:C:G p.(Glu1251Gln) NC_000019.10:15178908:C:G p.(Glu1251Gln) NC_000019.10:15178908:C:G Identity +NM_000095.3:c.235C>A NP_000086.2:p.Arg79Ser NC_000019.10:18790096:G:T p.(Arg79Ser) NC_000019.10:18790096:G:T p.(Arg79Ser) NC_000019.10:18790096:G:T Identity +NM_000789.4:c.1655G>A NP_000780.1:p.Gly552Asp NC_000017.11:63483916:G:A p.(Gly552Asp) NC_000017.11:63483916:G:A p.(Gly552Asp) NC_000017.11:63483916:G:A Identity +NM_000789.4:c.1681C>T NP_000780.1:p.Arg561Trp NC_000017.11:63483942:C:T p.(Arg561Trp) NC_000017.11:63483942:C:T p.(Arg561Trp) NC_000017.11:63483942:C:T Identity +NM_207346.3:c.16G>C NP_997229.2:p.Glu6Gln NC_000017.11:75516575:G:C p.(Glu6Gln) NC_000017.11:75516575:G:C p.(Glu6Gln) NC_000017.11:75516575:G:C Identity +NM_000789.4:c.1756A>G NP_000780.1:p.Lys586Glu NC_000017.11:63484375:A:G p.(Lys586Glu) NC_000017.11:63484375:A:G p.(Lys586Glu) NC_000017.11:63484375:A:G Identity +NM_001369369.1:c.64G>A NP_001356298.1:p.Glu22Lys NC_000017.11:28524032:G:A p.(Glu22Lys) NC_000017.11:28524032:G:A p.(Glu22Lys) NC_000017.11:28524032:G:A Identity +NM_002470.4:c.2716T>A NP_002461.2:p.Cys906Ser NC_000017.11:10639768:A:T p.(Cys906Ser) NC_000017.11:10639768:A:T p.(Cys906Ser) NC_000017.11:10639768:A:T Identity +NM_001145472.3:c.563C>T NP_001138944.1:p.Thr188Met NC_000018.10:46541792:G:A p.(Thr188Met) NC_000018.10:46541792:G:A p.(Thr188Met) NC_000018.10:46541792:G:A Identity +NM_000540.3:c.9581T>C NP_000531.2:p.Leu3194Pro NC_000019.10:38516112:T:C p.(Leu3194Pro) NC_000019.10:38516112:T:C p.(Leu3194Pro) NC_000019.10:38516112:T:C Identity +NM_000717.5:c.162C>G NP_000708.1:p.Ile54Met NC_000017.11:60156608:C:G p.(Ile54Met) NC_000017.11:60156608:C:G p.(Ile54Met) NC_000017.11:60156608:C:G Identity +NM_021939.4:c.1382C>T NP_068758.3:p.Ala461Val NC_000017.11:41821071:C:T p.(Ala461Val) NC_000017.11:41821071:C:T p.(Ala461Val) NC_000017.11:41821071:C:T Identity +NM_000095.3:c.1621C>G NP_000086.2:p.Pro541Ala NC_000019.10:18785719:G:C p.(Pro541Ala) NC_000019.10:18785719:G:C p.(Pro541Ala) NC_000019.10:18785719:G:C Identity +NM_000226.4:c.212A>G NP_000217.2:p.Tyr71Cys NC_000017.11:41571780:T:C p.(Tyr71Cys) NC_000017.11:41571780:T:C p.(Tyr71Cys) NC_000017.11:41571780:T:C Identity +NM_001256850.1:c.40730G>A NP_001243779.1:p.Arg13577Gln NC_000002.12:178620956:C:T p.(Arg13577Gln) NC_000002.12:178620956:C:T p.(Arg13577Gln) NC_000002.12:178620956:C:T Identity +NM_001177716.2:c.1435G>A NP_001171187.1:p.Ala479Thr NC_000002.12:10052453:G:A p.(Ala479Thr) NC_000002.12:10052453:G:A p.(Ala479Thr) NC_000002.12:10052453:G:A Identity +NM_001256850.1:c.27234C>G NP_001243779.1:p.Asn9078Lys NC_000002.12:178710911:G:C p.(Asn9078Lys) NC_000002.12:178710911:G:C p.(Asn9078Lys) NC_000002.12:178710911:G:C Identity +NM_000547.6:c.266G>A NP_000538.3:p.Arg89Gln NC_000002.12:1433523:G:A p.(Arg89Gln) NC_000002.12:1433523:G:A p.(Arg89Gln) NC_000002.12:1433523:G:A Identity +NM_006186.4:c.1588A>C NP_006177.1:p.Lys530Gln NC_000002.12:156325952:T:G p.(Lys530Gln) NC_000002.12:156325952:T:G p.(Lys530Gln) NC_000002.12:156325952:T:G Identity +NM_000152.5:c.1427T>C NP_000143.2:p.Leu476Pro NC_000017.11:80110044:T:C p.(Leu476Pro) NC_000017.11:80110044:T:C p.(Leu476Pro) NC_000017.11:80110044:T:C Identity +NM_178170.3:c.2068G>A NP_835464.1:p.Val690Ile NC_000017.11:28741975:G:A p.(Val690Ile) NC_000017.11:28741975:G:A p.(Val690Ile) NC_000017.11:28741975:G:A Identity +NM_001134453.3:c.1199G>A NP_001127925.1:p.Gly400Glu NC_000018.10:31399464:G:A p.(Gly400Glu) NC_000018.10:31399464:G:A p.(Gly400Glu) NC_000018.10:31399464:G:A Identity +NM_001352773.2:c.1705A>C NP_001339702.1:p.Ile569Leu NC_000017.11:41758466:T:G p.(Ile569Leu) NC_000017.11:41758466:T:G p.(Ile569Leu) NC_000017.11:41758466:T:G Identity +NM_003331.5:c.493G>A NP_003322.3:p.Ala165Thr NC_000019.10:10366552:C:T p.(Ala165Thr) NC_000019.10:10366552:C:T p.(Ala165Thr) NC_000019.10:10366552:C:T Identity +NM_005570.4:c.1411C>T NP_005561.1:p.Pro471Ser NC_000018.10:59331502:G:A p.(Pro471Ser) NC_000018.10:59331502:G:A p.(Pro471Ser) NC_000018.10:59331502:G:A Identity +NM_003331.5:c.2023G>A NP_003322.3:p.Gly675Ser NC_000019.10:10361534:C:T p.(Gly675Ser) NC_000019.10:10361534:C:T p.(Gly675Ser) NC_000019.10:10361534:C:T Identity +NM_145691.4:c.113G>T NP_663729.1:p.Arg38Leu NC_000017.11:18038900:C:A p.(Arg38Leu) NC_000017.11:18038900:C:A p.(Arg38Leu) NC_000017.11:18038900:C:A Identity +NM_000528.4:c.2731G>A NP_000519.2:p.Glu911Lys NC_000019.10:12647531:C:T p.(Glu911Lys) NC_000019.10:12647531:C:T p.(Glu911Lys) NC_000019.10:12647531:C:T Identity +NM_000121.4:c.610G>C NP_000112.1:p.Glu204Gln NC_000019.10:11381184:C:G p.(Glu204Gln) NC_000019.10:11381184:C:G p.(Glu204Gln) NC_000019.10:11381184:C:G Identity +NM_199242.3:c.3080G>C NP_954712.1:p.Gly1027Ala NC_000017.11:75828857:C:G p.(Gly1027Ala) NC_000017.11:75828857:C:G p.(Gly1027Ala) NC_000017.11:75828857:C:G Identity +NM_016239.4:c.7180C>G NP_057323.3:p.Leu2394Val NC_000017.11:18149547:C:G p.(Leu2394Val) NC_000017.11:18149547:C:G p.(Leu2394Val) NC_000017.11:18149547:C:G Identity +NM_001363602.2:c.5C>T NP_001350531.1:p.Ala2Val NC_000019.10:1383930:C:T p.(Ala2Val) NC_000019.10:1383930:C:T p.(Ala2Val) NC_000019.10:1383930:C:T Identity +NM_000226.4:c.578G>A NP_000217.2:p.Gly193Glu NC_000017.11:41571414:C:T p.(Gly193Glu) NC_000017.11:41571414:C:T p.(Gly193Glu) NC_000017.11:41571414:C:T Identity +NM_018081.2:c.1268C>T NP_060551.2:p.Pro423Leu NC_000017.11:7702845:C:T p.(Pro423Leu) NC_000017.11:7702845:C:T p.(Pro423Leu) NC_000017.11:7702845:C:T Identity +NM_000212.3:c.1157G>A NP_000203.2:p.Arg386His NC_000017.11:47290984:G:A p.(Arg386His) NC_000017.11:47290984:G:A p.(Arg386His) NC_000017.11:47290984:G:A Identity +NM_001077620.3:c.85G>C NP_001071088.1:p.Asp29His NC_000017.11:76540514:G:C p.(Asp29His) NC_000017.11:76540514:G:C p.(Asp29His) NC_000017.11:76540514:G:C Identity +NM_001080467.3:c.2966G>A NP_001073936.1:p.Arg989His NC_000018.10:49895019:C:T p.(Arg989His) NC_000018.10:49895019:C:T p.(Arg989His) NC_000018.10:49895019:C:T Identity +NM_000263.4:c.2026C>T NP_000254.2:p.Arg676Trp NC_000017.11:42544031:C:T p.(Arg676Trp) NC_000017.11:42544031:C:T p.(Arg676Trp) NC_000017.11:42544031:C:T Identity +NM_000342.4:c.2716G>C NP_000333.1:p.Glu906Gln NC_000017.11:44250477:C:G p.(Glu906Gln) NC_000017.11:44250477:C:G p.(Glu906Gln) NC_000017.11:44250477:C:G Identity +NM_000121.4:c.335C>T NP_000112.1:p.Ala112Val NC_000019.10:11382021:G:A p.(Ala112Val) NC_000019.10:11382021:G:A p.(Ala112Val) NC_000019.10:11382021:G:A Identity +NM_000154.2:c.1117G>A NP_000145.1:p.Gly373Ser NC_000017.11:75758117:C:T p.(Gly373Ser) NC_000017.11:75758117:C:T p.(Gly373Ser) NC_000017.11:75758117:C:T Identity +NM_001256850.1:c.84031G>A NP_001243779.1:p.Val28011Ile NC_000002.12:178554156:C:T p.(Val28011Ile) NC_000002.12:178554156:C:T p.(Val28011Ile) NC_000002.12:178554156:C:T Identity +NM_001040142.2:c.5677T>A NP_001035232.1:p.Tyr1893Asn NC_000002.12:165389482:T:A p.(Tyr1893Asn) NC_000002.12:165389482:T:A p.(Tyr1893Asn) NC_000002.12:165389482:T:A Identity +NM_000817.3:c.933A>G NP_000808.2:p.Ile311Met NC_000002.12:170845770:A:G p.(Ile311Met) NC_000002.12:170845770:A:G p.(Ile311Met) NC_000002.12:170845770:A:G Identity +NM_001256850.1:c.39016G>C NP_001243779.1:p.Ala13006Pro NC_000002.12:178631108:C:G p.(Ala13006Pro) NC_000002.12:178631108:C:G p.(Ala13006Pro) NC_000002.12:178631108:C:G Identity +NM_004525.3:c.4733G>T NP_004516.2:p.Arg1578Leu NC_000002.12:169236026:C:A p.(Arg1578Leu) NC_000002.12:169236026:C:A p.(Arg1578Leu) NC_000002.12:169236026:C:A Identity +NM_001105.5:c.484G>A NP_001096.1:p.Val162Met NC_000002.12:157778189:C:T p.(Val162Met) NC_000002.12:157778189:C:T p.(Val162Met) NC_000002.12:157778189:C:T Identity +NM_001077186.2:c.2500C>T NP_001070654.1:p.Arg834Cys NC_000019.10:50263324:C:T p.(Arg834Cys) NC_000019.10:50263324:C:T p.(Arg834Cys) NC_000019.10:50263324:C:T Identity +NM_001195227.2:c.3110G>A NP_001182156.1:p.Cys1037Tyr NC_000019.10:49211173:G:A p.(Cys1037Tyr) NC_000019.10:49211173:G:A p.(Cys1037Tyr) NC_000019.10:49211173:G:A Identity +NM_001145901.2:c.1298G>A NP_001139373.1:p.Arg433His NC_000019.10:38916091:C:T p.(Arg433His) NC_000019.10:38916091:C:T p.(Arg433His) NC_000019.10:38916091:C:T Identity +NM_002299.4:c.2293C>A NP_002290.2:p.Leu765Ile NC_000002.12:135812370:G:T p.(Leu765Ile) NC_000002.12:135812370:G:T p.(Leu765Ile) NC_000002.12:135812370:G:T Identity +NM_001256850.1:c.74183T>C NP_001243779.1:p.Val24728Ala NC_000002.12:178567025:A:G p.(Val24728Ala) NC_000002.12:178567025:A:G p.(Val24728Ala) NC_000002.12:178567025:A:G Identity +NM_001015878.2:c.689A>G NP_001015878.1:p.Tyr230Cys NC_000019.10:57234987:A:G p.(Tyr230Cys) NC_000019.10:57234987:A:G p.(Tyr230Cys) NC_000019.10:57234987:A:G Identity +NM_001193503.2:c.11A>C NP_001180432.1:p.Gln4Pro NC_000017.11:4951839:A:C p.(Gln4Pro) NC_000017.11:4951839:A:C p.(Gln4Pro) NC_000017.11:4951839:A:C Identity +NM_001319074.4:c.446A>G NP_001306003.2:p.His149Arg NC_000019.10:3770729:T:C p.(His149Arg) NC_000019.10:3770729:T:C p.(His149Arg) NC_000019.10:3770729:T:C Identity +NM_001365536.1:c.4099C>T NP_001352465.1:p.Arg1367Cys NC_000002.12:166228797:G:A p.(Arg1367Cys) NC_000002.12:166228797:G:A p.(Arg1367Cys) NC_000002.12:166228797:G:A Identity +NM_004525.3:c.5983A>C NP_004516.2:p.Ile1995Leu NC_000002.12:169213713:T:G p.(Ile1995Leu) NC_000002.12:169213713:T:G p.(Ile1995Leu) NC_000002.12:169213713:T:G Identity +NM_001256850.1:c.30759G>C NP_001243779.1:p.Glu10253Asp NC_000002.12:178692067:C:G p.(Glu10253Asp) NC_000002.12:178692067:C:G p.(Glu10253Asp) NC_000002.12:178692067:C:G Identity +NM_004525.3:c.1921G>C NP_004516.2:p.Ala641Pro NC_000002.12:169275089:C:G p.(Ala641Pro) NC_000002.12:169275089:C:G p.(Ala641Pro) NC_000002.12:169275089:C:G Identity +NM_001077186.2:c.3874C>T NP_001070654.1:p.Arg1292Trp NC_000019.10:50278229:C:T p.(Arg1292Trp) NC_000019.10:50278229:C:T p.(Arg1292Trp) NC_000019.10:50278229:C:T Identity +NM_001256850.1:c.25061C>T NP_001243779.1:p.Pro8354Leu NC_000002.12:178715173:G:A p.(Pro8354Leu) NC_000002.12:178715173:G:A p.(Pro8354Leu) NC_000002.12:178715173:G:A Identity +NM_001256850.1:c.44260A>G NP_001243779.1:p.Ser14754Gly NC_000002.12:178614213:T:C p.(Ser14754Gly) NC_000002.12:178614213:T:C p.(Ser14754Gly) NC_000002.12:178614213:T:C Identity +NM_000208.4:c.3844A>G NP_000199.2:p.Thr1282Ala NC_000019.10:7117360:T:C p.(Thr1282Ala) NC_000019.10:7117360:T:C p.(Thr1282Ala) NC_000019.10:7117360:T:C Identity +NM_001256850.1:c.55921G>C NP_001243779.1:p.Asp18641His NC_000002.12:178590880:C:G p.(Asp18641His) NC_000002.12:178590880:C:G p.(Asp18641His) NC_000002.12:178590880:C:G Identity +NM_000541.5:c.269C>G NP_000532.2:p.Ser90Cys NC_000002.12:233320716:C:G p.(Ser90Cys) NC_000002.12:233320716:C:G p.(Ser90Cys) NC_000002.12:233320716:C:G Identity +NM_014585.6:c.646A>G NP_055400.1:p.Met216Val NC_000002.12:189565467:T:C p.(Met216Val) NC_000002.12:189565467:T:C p.(Met216Val) NC_000002.12:189565467:T:C Identity +NM_001315529.2:c.2191G>T NP_001302458.1:p.Gly731Trp NC_000021.9:46363869:G:T p.(Gly731Trp) NC_000021.9:46363869:G:T p.(Gly731Trp) NC_000021.9:46363869:G:T Identity +NM_001201543.2:c.1018A>G NP_001188472.1:p.Lys340Glu NC_000002.12:61839985:T:C p.(Lys340Glu) NC_000002.12:61839985:T:C p.(Lys340Glu) NC_000002.12:61839985:T:C Identity +NM_000071.3:c.349A>T NP_000062.1:p.Ser117Cys NC_000021.9:43066344:T:A p.(Ser117Cys) NC_000021.9:43066344:T:A p.(Ser117Cys) NC_000021.9:43066344:T:A Identity +NM_001367281.1:c.1058C>T NP_001354210.1:p.Pro353Leu NC_000002.12:85658799:G:A p.(Pro353Leu) NC_000002.12:85658799:G:A p.(Pro353Leu) NC_000002.12:85658799:G:A Identity +NM_001135659.3:c.524G>A NP_001129131.1:p.Arg175Lys NC_000002.12:51027749:C:T p.(Arg175Lys) NC_000002.12:51027749:C:T p.(Arg175Lys) NC_000002.12:51027749:C:T Identity +NM_000379.4:c.2728A>G NP_000370.2:p.Thr910Ala NC_000002.12:31350126:T:C p.(Thr910Ala) NC_000002.12:31350126:T:C p.(Thr910Ala) NC_000002.12:31350126:T:C Identity +NM_000092.5:c.228T>G NP_000083.3:p.Ile76Met NC_000002.12:227121112:A:C p.(Ile76Met) NC_000002.12:227121112:A:C p.(Ile76Met) NC_000002.12:227121112:A:C Identity +NM_002591.4:c.1553G>A NP_002582.3:p.Arg518Gln NC_000020.11:57565487:G:A p.(Arg518Gln) NC_000020.11:57565487:G:A p.(Arg518Gln) NC_000020.11:57565487:G:A Identity +NM_001315529.2:c.8659C>G NP_001302458.1:p.Leu2887Val NC_000021.9:46438313:C:G p.(Leu2887Val) NC_000021.9:46438313:C:G p.(Leu2887Val) NC_000021.9:46438313:C:G Identity +NM_004369.4:c.2401G>A NP_004360.2:p.Asp801Asn NC_000002.12:237378731:C:T p.(Asp801Asn) NC_000002.12:237378731:C:T p.(Asp801Asn) NC_000002.12:237378731:C:T Identity +NM_000316.3:c.449G>A NP_000307.1:p.Arg150His NC_000003.12:46898097:G:A p.(Arg150His) NC_000003.12:46898097:G:A p.(Arg150His) NC_000003.12:46898097:G:A Identity +NM_000335.5:c.5485C>A NP_000326.2:p.Pro1829Thr NC_000003.12:38550883:G:T p.(Pro1829Thr) NC_000003.12:38550883:G:T p.(Pro1829Thr) NC_000003.12:38550883:G:T Identity +NM_020208.4:c.74T>C NP_064593.1:p.Leu25Pro NC_000003.12:45796345:A:G p.(Leu25Pro) NC_000003.12:45796345:A:G p.(Leu25Pro) NC_000003.12:45796345:A:G Identity +NM_003466.4:c.1009T>G NP_003457.1:p.Ser337Ala NC_000002.12:113235471:A:C p.(Ser337Ala) NC_000002.12:113235471:A:C p.(Ser337Ala) NC_000002.12:113235471:A:C Identity +NM_000379.4:c.3662A>G NP_000370.2:p.His1221Arg NC_000002.12:31339600:T:C p.(His1221Arg) NC_000002.12:31339600:T:C p.(His1221Arg) NC_000002.12:31339600:T:C Identity +NM_000379.4:c.3562A>C NP_000370.2:p.Asn1188His NC_000002.12:31341351:T:G p.(Asn1188His) NC_000002.12:31341351:T:G p.(Asn1188His) NC_000002.12:31341351:T:G Identity +NM_144773.4:c.1111G>C NP_658986.1:p.Gly371Arg NC_000020.11:5302083:C:G p.(Gly371Arg) NC_000020.11:5302083:C:G p.(Gly371Arg) NC_000020.11:5302083:C:G Identity +NM_030777.4:c.173C>T NP_110404.1:p.Ala58Val NC_000020.11:46725208:C:T p.(Ala58Val) NC_000020.11:46725208:C:T p.(Ala58Val) NC_000020.11:46725208:C:T Identity +NM_001136193.2:c.683A>C NP_001129665.1:p.Gln228Pro NC_000002.12:206767375:A:C p.(Gln228Pro) NC_000002.12:206767375:A:C p.(Gln228Pro) NC_000002.12:206767375:A:C Identity +NM_032601.4:c.440A>G NP_115990.3:p.Glu147Gly NC_000002.12:71110060:T:C p.(Glu147Gly) NC_000002.12:71110060:T:C p.(Glu147Gly) NC_000002.12:71110060:T:C Identity +NM_198994.3:c.2065C>T NP_945345.2:p.Pro689Ser NC_000020.11:2432586:C:T p.(Pro689Ser) NC_000020.11:2432586:C:T p.(Pro689Ser) NC_000020.11:2432586:C:T Identity +NM_001042472.3:c.718G>A NP_001035937.1:p.Val240Met NC_000020.11:25309476:C:T p.(Val240Met) NC_000020.11:25309476:C:T p.(Val240Met) NC_000020.11:25309476:C:T Identity +NM_001127207.2:c.748G>C NP_001120679.1:p.Val250Leu NC_000002.12:216415451:G:C p.(Val250Leu) NC_000002.12:216415451:G:C p.(Val250Leu) NC_000002.12:216415451:G:C Identity +NM_015040.4:c.3804G>C NP_055855.2:p.Gln1268His NC_000002.12:208330534:G:C p.(Gln1268His) NC_000002.12:208330534:G:C p.(Gln1268His) NC_000002.12:208330534:G:C Identity +NM_001079818.3:c.3157C>G NP_001073286.1:p.Arg1053Gly NC_000002.12:172504132:C:G p.(Arg1053Gly) NC_000002.12:172504132:C:G p.(Arg1053Gly) NC_000002.12:172504132:C:G Identity +NM_001166111.2:c.3668A>G NP_001159583.1:p.Tyr1223Cys NC_000019.10:7559089:A:G p.(Tyr1223Cys) NC_000019.10:7559089:A:G p.(Tyr1223Cys) NC_000019.10:7559089:A:G Identity +NM_000400.4:c.1339G>A NP_000391.1:p.Val447Ile NC_000019.10:45357511:C:T p.(Val447Ile) NC_000019.10:45357511:C:T p.(Val447Ile) NC_000019.10:45357511:C:T Identity +NM_000122.2:c.1411G>A NP_000113.1:p.Val471Ile NC_000002.12:127280562:C:T p.(Val471Ile) NC_000002.12:127280562:C:T p.(Val471Ile) NC_000002.12:127280562:C:T Identity +NM_000027.4:c.28C>G NP_000018.2:p.Leu10Val NC_000004.12:177442347:G:C p.(Leu10Val) NC_000004.12:177442347:G:C p.(Leu10Val) NC_000004.12:177442347:G:C Identity +NM_001302456.2:c.577T>C NP_001289385.1:p.Ter193Gln NC_000020.11:59324364:T:C p.(Ter193GlnextTer61) NC_000020.11:59324364:T:C p.(Ter193GlnextTer61) NC_000020.11:59324364:T:C Analogous +NM_017671.5:c.1384G>A NP_060141.3:p.Ala462Thr NC_000020.11:6085274:C:T p.(Ala462Thr) NC_000020.11:6085274:C:T p.(Ala462Thr) NC_000020.11:6085274:C:T Identity +NM_001849.4:c.300C>G NP_001840.3:p.His100Gln NC_000021.9:46112162:C:G p.(His100Gln) NC_000021.9:46112162:C:G p.(His100Gln) NC_000021.9:46112162:C:G Identity +NM_000484.4:c.881A>G NP_000475.1:p.Gln294Arg NC_000021.9:26000166:T:C p.(Gln294Arg) NC_000021.9:26000166:T:C p.(Gln294Arg) NC_000021.9:26000166:T:C Identity +NM_015657.4:c.4895G>A NP_056472.2:p.Arg1632Gln NC_000002.12:214966882:C:T p.(Arg1632Gln) NC_000002.12:214966882:C:T p.(Arg1632Gln) NC_000002.12:214966882:C:T Identity +NM_001357321.2:c.743C>T NP_001344250.1:p.Ala248Val NC_000002.12:43852646:C:T p.(Ala248Val) NC_000002.12:43852646:C:T p.(Ala248Val) NC_000002.12:43852646:C:T Identity +NM_000030.3:c.491A>T NP_000021.1:p.Gln164Leu NC_000002.12:240871415:A:T p.(Gln164Leu) NC_000002.12:240871415:A:T p.(Gln164Leu) NC_000002.12:240871415:A:T Identity +NM_000094.4:c.7124T>A NP_000085.1:p.Val2375Asp NC_000003.12:48571140:A:T p.(Val2375Asp) NC_000003.12:48571140:A:T p.(Val2375Asp) NC_000003.12:48571140:A:T Identity +NM_000174.5:c.131C>T NP_000165.1:p.Thr44Met NC_000003.12:129061869:C:T p.(Thr44Met) NC_000003.12:129061869:C:T p.(Thr44Met) NC_000003.12:129061869:C:T Identity +NM_015657.4:c.4427C>T NP_056472.2:p.Ala1476Val NC_000002.12:214975784:G:A p.(Ala1476Val) NC_000002.12:214975784:G:A p.(Ala1476Val) NC_000002.12:214975784:G:A Identity +NM_000541.5:c.793A>G NP_000532.2:p.Met265Val NC_000002.12:233331698:A:G p.(Met265Val) NC_000002.12:233331698:A:G p.(Met265Val) NC_000002.12:233331698:A:G Identity +NM_144773.4:c.506C>T NP_658986.1:p.Thr169Met NC_000020.11:5302688:G:A p.(Thr169Met) NC_000020.11:5302688:G:A p.(Thr169Met) NC_000020.11:5302688:G:A Identity +NM_017671.5:c.1115T>G NP_060141.3:p.Leu372Arg NC_000020.11:6094962:A:C p.(Leu372Arg) NC_000020.11:6094962:A:C p.(Leu372Arg) NC_000020.11:6094962:A:C Identity +NM_025225.3:c.484G>A NP_079501.2:p.Val162Met NC_000022.11:43928886:G:A p.(Val162Met) NC_000022.11:43928886:G:A p.(Val162Met) NC_000022.11:43928886:G:A Identity +NM_001184.4:c.7864T>C NP_001175.2:p.Tyr2622His NC_000003.12:142449499:A:G p.(Tyr2622His) NC_000003.12:142449499:A:G p.(Tyr2622His) NC_000003.12:142449499:A:G Identity +NM_016955.4:c.1257C>G NP_058651.3:p.Phe419Leu NC_000004.12:25124179:G:C p.(Phe419Leu) NC_000004.12:25124179:G:C p.(Phe419Leu) NC_000004.12:25124179:G:C Identity +NM_001145392.2:c.1255A>C NP_001138864.1:p.Met419Leu NC_000003.12:12531575:A:C p.(Met419Leu) NC_000003.12:12531575:A:C p.(Met419Leu) NC_000003.12:12531575:A:C Identity +NM_001164317.2:c.187T>C NP_001157789.1:p.Tyr63His NC_000003.12:58008750:T:C p.(Tyr63His) NC_000003.12:58008750:T:C p.(Tyr63His) NC_000003.12:58008750:T:C Identity +NM_000509.6:c.124G>A NP_000500.2:p.Gly42Ser NC_000004.12:154612200:C:T p.(Gly42Ser) NC_000004.12:154612200:C:T p.(Gly42Ser) NC_000004.12:154612200:C:T Identity +NM_000532.5:c.167A>G NP_000523.2:p.Asp56Gly NC_000003.12:136250541:A:G p.(Asp56Gly) NC_000003.12:136250541:A:G p.(Asp56Gly) NC_000003.12:136250541:A:G Identity +NM_001006941.2:c.827C>G NP_001006942.1:p.Ser276Cys NC_000003.12:184243591:G:C p.(Ser276Cys) NC_000003.12:184243591:G:C p.(Ser276Cys) NC_000003.12:184243591:G:C Identity +NM_000094.4:c.1043G>T NP_000085.1:p.Arg348Leu NC_000003.12:48592400:C:A p.(Arg348Leu) NC_000003.12:48592400:C:A p.(Arg348Leu) NC_000003.12:48592400:C:A Identity +NM_001376481.1:c.493T>C NP_001363410.1:p.Ser165Pro NC_000022.11:50076842:A:G p.(Ser165Pro) NC_000022.11:50076842:A:G p.(Ser165Pro) NC_000022.11:50076842:A:G Identity +NM_001190241.2:c.1627C>T NP_001177170.1:p.Leu543Phe NC_000003.12:160277366:G:A p.(Leu543Phe) NC_000003.12:160277366:G:A p.(Leu543Phe) NC_000003.12:160277366:G:A Identity +NM_181426.2:c.551A>C NP_852091.1:p.Glu184Ala NC_000003.12:180659734:T:G p.(Glu184Ala) NC_000003.12:180659734:T:G p.(Glu184Ala) NC_000003.12:180659734:T:G Identity +NM_001313915.2:c.1273A>C NP_001300844.1:p.Ser425Arg NC_000002.12:88583466:T:G p.(Ser425Arg) NC_000002.12:88583466:T:G p.(Ser425Arg) NC_000002.12:88583466:T:G Identity +NM_001315529.2:c.7214C>T NP_001302458.1:p.Ala2405Val NC_000021.9:46428467:C:T p.(Ala2405Val) NC_000021.9:46428467:C:T p.(Ala2405Val) NC_000021.9:46428467:C:T Identity +NM_001289000.2:c.1651G>A NP_001275929.1:p.Gly551Ser NC_000022.11:37070936:C:T p.(Gly551Ser) NC_000022.11:37070936:C:T p.(Gly551Ser) NC_000022.11:37070936:C:T Identity +NM_001114978.2:c.688G>C NP_001108450.1:p.Val230Leu NC_000003.12:189864339:G:C p.(Val230Leu) NC_000003.12:189864339:G:C p.(Val230Leu) NC_000003.12:189864339:G:C Identity +NM_000463.3:c.361G>C NP_000454.1:p.Ala121Pro NC_000002.12:233760647:G:C p.(Ala121Pro) NC_000002.12:233760647:G:C p.(Ala121Pro) NC_000002.12:233760647:G:C Identity +NM_001146077.2:c.578C>T NP_001139549.1:p.Pro193Leu NC_000021.9:36461117:G:A p.(Pro193Leu) NC_000021.9:36461117:G:A p.(Pro193Leu) NC_000021.9:36461117:G:A Identity +NM_001199981.2:c.1417G>T NP_001186910.1:p.Asp473Tyr NC_000002.12:206132972:C:A p.(Asp473Tyr) NC_000002.12:206132972:C:A p.(Asp473Tyr) NC_000002.12:206132972:C:A Identity +NM_032119.4:c.8068A>G NP_115495.3:p.Thr2690Ala NC_000005.10:90697058:A:G p.(Thr2690Ala) NC_000005.10:90697058:A:G p.(Thr2690Ala) NC_000005.10:90697058:A:G Identity +NM_001104631.2:c.781C>A NP_001098101.1:p.Pro261Thr NC_000005.10:59180621:G:T p.(Pro261Thr) NC_000005.10:59180621:G:T p.(Pro261Thr) NC_000005.10:59180621:G:T Identity +NM_000426.4:c.1652G>A NP_000417.3:p.Arg551His NC_000006.12:129192722:G:A p.(Arg551His) NC_000006.12:129192722:G:A p.(Arg551His) NC_000006.12:129192722:G:A Identity +NM_001127207.2:c.1160G>A NP_001120679.1:p.Arg387His NC_000002.12:216428607:G:A p.(Arg387His) NC_000002.12:216428607:G:A p.(Arg387His) NC_000002.12:216428607:G:A Identity +NM_015311.3:c.5245G>A NP_056126.1:p.Gly1749Arg NC_000002.12:219552598:C:T p.(Gly1749Arg) NC_000002.12:219552598:C:T p.(Gly1749Arg) NC_000002.12:219552598:C:T Identity +NM_000343.4:c.1232C>T NP_000334.1:p.Ala411Val NC_000022.11:32091713:C:T p.(Ala411Val) NC_000022.11:32091713:C:T p.(Ala411Val) NC_000022.11:32091713:C:T Identity +NM_001145847.2:c.2023C>G NP_001139319.1:p.Arg675Gly NC_000004.12:15989757:G:C p.(Arg675Gly) NC_000004.12:15989757:G:C p.(Arg675Gly) NC_000004.12:15989757:G:C Identity +NM_016247.4:c.745C>T NP_057331.2:p.Leu249Phe NC_000003.12:101273663:G:A p.(Leu249Phe) NC_000003.12:101273663:G:A p.(Leu249Phe) NC_000003.12:101273663:G:A Identity +NM_002203.4:c.171T>A NP_002194.2:p.Asn57Lys NC_000005.10:53026853:T:A p.(Asn57Lys) NC_000005.10:53026853:T:A p.(Asn57Lys) NC_000005.10:53026853:T:A Identity +NM_000063.6:c.1109C>T NP_000054.2:p.Ala370Val NC_000006.12:31937438:C:T p.(Ala370Val) NC_000006.12:31937438:C:T p.(Ala370Val) NC_000006.12:31937438:C:T Identity +NM_001363147.1:c.58C>T NP_001350076.1:p.Pro20Ser NC_000005.10:71587482:C:T p.(Pro20Ser) NC_000005.10:71587482:C:T p.(Pro20Ser) NC_000005.10:71587482:C:T Identity +NM_032119.4:c.2301G>T NP_115495.3:p.Leu767Phe NC_000005.10:90642695:G:T p.(Leu767Phe) NC_000005.10:90642695:G:T p.(Leu767Phe) NC_000005.10:90642695:G:T Identity +NM_000203.5:c.806C>G NP_000194.2:p.Ser269Cys NC_000004.12:1001994:C:G p.(Ser269Cys) NC_000004.12:1001994:C:G p.(Ser269Cys) NC_000004.12:1001994:C:G Identity +NM_001136193.2:c.1630G>A NP_001129665.1:p.Asp544Asn NC_000002.12:206787971:G:A p.(Asp544Asn) NC_000002.12:206787971:G:A p.(Asp544Asn) NC_000002.12:206787971:G:A Identity +NM_001164317.2:c.4966G>A NP_001157789.1:p.Ala1656Thr NC_000003.12:58138292:G:A p.(Ala1656Thr) NC_000003.12:58138292:G:A p.(Ala1656Thr) NC_000003.12:58138292:G:A Identity +NM_000104.4:c.809A>G NP_000095.2:p.Asn270Ser NC_000002.12:38074579:T:C p.(Asn270Ser) NC_000002.12:38074579:T:C p.(Asn270Ser) NC_000002.12:38074579:T:C Identity +NM_001178130.3:c.1684G>C NP_001171601.1:p.Val562Leu NC_000004.12:109969078:G:C p.(Val562Leu) NC_000004.12:109969078:G:C p.(Val562Leu) NC_000004.12:109969078:G:C Identity +LRG_427t2:c.9700G>C LRG_427p2:p.Glu3234Gln NC_000006.12:152369099:C:G ERR:Data provider error: ValueError: Transcript LRG_427t2 not found ERR:Data provider error: ValueError: Transcript LRG_427t2 not found ERR:AlignmentMapper(tx_ac=LRG_427t2, alt_ac=LRG_427t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_427t2, alt_ac=LRG_427t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_427t2 not found +NM_004752.4:c.1342A>G NP_004743.1:p.Met448Val NC_000006.12:10874173:T:C p.(Met448Val) NC_000006.12:10874173:T:C p.(Met448Val) NC_000006.12:10874173:T:C Identity +NM_000440.3:c.367G>A NP_000431.2:p.Asp123Asn NC_000005.10:149944306:C:T p.(Asp123Asn) NC_000005.10:149944306:C:T p.(Asp123Asn) NC_000005.10:149944306:C:T Identity +NM_001384732.1:c.190G>T NP_001371661.1:p.Val64Phe NC_000005.10:37245736:C:A p.(Val64Phe) NC_000005.10:37245736:C:A p.(Val64Phe) NC_000005.10:37245736:C:A Identity +NM_001166136.2:c.450C>G NP_001159608.1:p.Ser150Arg NC_000004.12:5689172:G:C p.(Ser150Arg) NC_000004.12:5689172:G:C p.(Ser150Arg) NC_000004.12:5689172:G:C Identity +NM_000440.3:c.2252C>T NP_000431.2:p.Thr751Met NC_000005.10:149867746:G:A p.(Thr751Met) NC_000005.10:149867746:G:A p.(Thr751Met) NC_000005.10:149867746:G:A Identity +LRG_427t2:c.24166A>T LRG_427p2:p.Met8056Leu NC_000006.12:152151623:T:A ERR:Data provider error: ValueError: Transcript LRG_427t2 not found ERR:Data provider error: ValueError: Transcript LRG_427t2 not found ERR:AlignmentMapper(tx_ac=LRG_427t2, alt_ac=LRG_427t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_427t2, alt_ac=LRG_427t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_427t2 not found +NM_000426.4:c.6183C>A NP_000417.3:p.Asn2061Lys NC_000006.12:129440912:C:A p.(Asn2061Lys) NC_000006.12:129440912:C:A p.(Asn2061Lys) NC_000006.12:129440912:C:A Identity +NM_006953.4:c.361G>T NP_008884.1:p.Asp121Tyr NC_000022.11:45287323:G:T p.(Asp121Tyr) NC_000022.11:45287323:G:T p.(Asp121Tyr) NC_000022.11:45287323:G:T Identity +NM_000174.5:c.236C>T NP_000165.1:p.Thr79Ile NC_000003.12:129061974:C:T p.(Thr79Ile) NC_000003.12:129061974:C:T p.(Thr79Ile) NC_000003.12:129061974:C:T Identity +NM_001079878.2:c.373G>A NP_001073347.1:p.Glu125Lys NC_000002.12:98380331:G:A p.(Glu125Lys) NC_000002.12:98380331:G:A p.(Glu125Lys) NC_000002.12:98380331:G:A Identity +NM_001382394.1:c.649A>G NP_001369323.1:p.Lys217Glu NC_000002.12:39054663:T:C p.(Lys217Glu) NC_000002.12:39054663:T:C p.(Lys217Glu) NC_000002.12:39054663:T:C Identity +NM_014014.5:c.2122G>A NP_054733.2:p.Val708Ile NC_000002.12:96293009:C:T p.(Val708Ile) NC_000002.12:96293009:C:T p.(Val708Ile) NC_000002.12:96293009:C:T Identity +NM_001347701.2:c.272A>G NP_001334630.1:p.Gln91Arg NC_000006.12:152164286:T:C p.(Gln91Arg) NC_000006.12:152164286:T:C p.(Gln91Arg) NC_000006.12:152164286:T:C Identity +NM_001034850.3:c.94G>C NP_001030022.1:p.Ala32Pro NC_000005.10:16616877:C:G p.(Ala32Pro) NC_000005.10:16616877:C:G p.(Ala32Pro) NC_000005.10:16616877:C:G Identity +NM_032119.4:c.4118C>T NP_115495.3:p.Ala1373Val NC_000005.10:90653691:C:T p.(Ala1373Val) NC_000005.10:90653691:C:T p.(Ala1373Val) NC_000005.10:90653691:C:T Identity +NM_001127698.2:c.1772T>C NP_001121170.1:p.Leu591Pro NC_000005.10:148111846:T:C p.(Leu591Pro) NC_000005.10:148111846:T:C p.(Leu591Pro) NC_000005.10:148111846:T:C Identity +NM_001384880.1:c.1484A>G NP_001371809.1:p.Asn495Ser NC_000002.12:190982420:T:C p.(Asn495Ser) NC_000002.12:190982420:T:C p.(Asn495Ser) NC_000002.12:190982420:T:C Identity +NM_000183.3:c.994A>G NP_000174.1:p.Lys332Glu NC_000002.12:26282904:A:G p.(Lys332Glu) NC_000002.12:26282904:A:G p.(Lys332Glu) NC_000002.12:26282904:A:G Identity +NM_001199981.2:c.70A>G NP_001186910.1:p.Thr24Ala NC_000002.12:206152501:T:C p.(Thr24Ala) NC_000002.12:206152501:T:C p.(Thr24Ala) NC_000002.12:206152501:T:C Identity +NM_000404.4:c.1568A>G NP_000395.3:p.His523Arg NC_000003.12:33014221:T:C p.(His523Arg) NC_000003.12:33014221:T:C p.(His523Arg) NC_000003.12:33014221:T:C Identity +NM_032119.4:c.6772A>G NP_115495.3:p.Ile2258Val NC_000005.10:90690861:A:G p.(Ile2258Val) NC_000005.10:90690861:A:G p.(Ile2258Val) NC_000005.10:90690861:A:G Identity +NM_001289395.2:c.1010G>A NP_001276324.1:p.Arg337His NC_000006.12:35503791:C:T p.(Arg337His) NC_000006.12:35503791:C:T p.(Arg337His) NC_000006.12:35503791:C:T Identity +NM_138694.4:c.4265G>A NP_619639.3:p.Arg1422Gln NC_000006.12:52025544:C:T p.(Arg1422Gln) NC_000006.12:52025544:C:T p.(Arg1422Gln) NC_000006.12:52025544:C:T Identity +NM_015243.3:c.2038A>G NP_056058.2:p.Thr680Ala NC_000008.11:99156572:A:G p.(Thr680Ala) NC_000008.11:99156572:A:G p.(Thr680Ala) NC_000008.11:99156572:A:G Identity +NM_000287.4:c.49C>A NP_000278.3:p.Pro17Thr NC_000006.12:42979101:G:T p.(Pro17Thr) NC_000006.12:42979101:G:T p.(Pro17Thr) NC_000006.12:42979101:G:T Identity +NM_000048.4:c.29G>A NP_000039.2:p.Gly10Asp NC_000007.14:66081818:G:A p.(Gly10Asp) NC_000007.14:66081818:G:A p.(Gly10Asp) NC_000007.14:66081818:G:A Identity +NM_001148.6:c.8072C>T NP_001139.3:p.Pro2691Leu NC_000004.12:113356689:C:T p.(Pro2691Leu) NC_000004.12:113356689:C:T p.(Pro2691Leu) NC_000004.12:113356689:C:T Identity +NM_001289000.2:c.1309C>G NP_001275929.1:p.Arg437Gly NC_000022.11:37075167:G:C p.(Arg437Gly) NC_000022.11:37075167:G:C p.(Arg437Gly) NC_000022.11:37075167:G:C Identity +NM_001164317.2:c.6794G>C NP_001157789.1:p.Ser2265Thr NC_000003.12:58154856:G:C p.(Ser2265Thr) NC_000003.12:58154856:G:C p.(Ser2265Thr) NC_000003.12:58154856:G:C Identity +NM_033159.4:c.1290G>C NP_149349.2:p.Glu430Asp NC_000003.12:50300500:C:G p.(Glu430Asp) NC_000003.12:50300500:C:G p.(Glu430Asp) NC_000003.12:50300500:C:G Identity +NM_015384.5:c.2864A>C NP_056199.2:p.Asn955Thr NC_000005.10:36986043:A:C p.(Asn955Thr) NC_000005.10:36986043:A:C p.(Asn955Thr) NC_000005.10:36986043:A:C Identity +NM_001145717.1:c.92C>T NP_001139189.2:p.Ala31Val NC_000006.12:36270550:C:T p.(Ala31Val) NC_000006.12:36270550:C:T p.(Ala31Val) NC_000006.12:36270550:C:T Identity +NM_003235.5:c.4151A>G NP_003226.4:p.His1384Arg NC_000008.11:132911524:A:G p.(His1384Arg) NC_000008.11:132911524:A:G p.(His1384Arg) NC_000008.11:132911524:A:G Identity +NM_000316.3:c.1330G>A NP_000307.1:p.Glu444Lys NC_000003.12:46902643:G:A p.(Glu444Lys) NC_000003.12:46902643:G:A p.(Glu444Lys) NC_000003.12:46902643:G:A Identity +NM_000387.6:c.424G>A NP_000378.1:p.Ala142Thr NC_000003.12:48862652:C:T p.(Ala142Thr) NC_000003.12:48862652:C:T p.(Ala142Thr) NC_000003.12:48862652:C:T Identity +NM_000316.3:c.1732C>T NP_000307.1:p.Pro578Ser NC_000003.12:46903605:C:T p.(Pro578Ser) NC_000003.12:46903605:C:T p.(Pro578Ser) NC_000003.12:46903605:C:T Identity +NM_001365116.2:c.1660G>A NP_001352045.1:p.Ala554Thr NC_000003.12:46995496:G:A p.(Ala554Thr) NC_000003.12:46995496:G:A p.(Ala554Thr) NC_000003.12:46995496:G:A Identity +NM_000258.3:c.70G>A NP_000249.1:p.Ala24Thr NC_000003.12:46863320:C:T p.(Ala24Thr) NC_000003.12:46863320:C:T p.(Ala24Thr) NC_000003.12:46863320:C:T Identity +NM_000097.7:c.766A>G NP_000088.3:p.Thr256Ala NC_000003.12:98590676:T:C p.(Thr256Ala) NC_000003.12:98590676:T:C p.(Thr256Ala) NC_000003.12:98590676:T:C Identity +NM_000283.4:c.110A>G NP_000274.3:p.Glu37Gly NC_000004.12:625735:A:G p.(Glu37Gly) NC_000004.12:625735:A:G p.(Glu37Gly) NC_000004.12:625735:A:G Identity +NM_017890.5:c.5065G>A NP_060360.3:p.Val1689Ile NC_000008.11:99575697:G:A p.(Val1689Ile) NC_000008.11:99575697:G:A p.(Val1689Ile) NC_000008.11:99575697:G:A Identity +NM_000255.4:c.1963C>T NP_000246.2:p.Arg655Cys NC_000006.12:49435616:G:A p.(Arg655Cys) NC_000006.12:49435616:G:A p.(Arg655Cys) NC_000006.12:49435616:G:A Identity +NM_001280541.2:c.3035A>G NP_001267470.1:p.Tyr1012Cys NC_000003.12:129514456:A:G p.(Tyr1012Cys) NC_000003.12:129514456:A:G p.(Tyr1012Cys) NC_000003.12:129514456:A:G Identity +NM_005198.5:c.512T>C NP_005189.2:p.Met171Thr NC_000022.11:50581488:A:G p.(Met171Thr) NC_000022.11:50581488:A:G p.(Met171Thr) NC_000022.11:50581488:A:G Identity +NM_001365116.2:c.256G>A NP_001352045.1:p.Glu86Lys NC_000003.12:46989091:G:A p.(Glu86Lys) NC_000003.12:46989091:G:A p.(Glu86Lys) NC_000003.12:46989091:G:A Identity +NM_000343.4:c.1866G>C NP_000334.1:p.Glu622Asp NC_000022.11:32110083:G:C p.(Glu622Asp) NC_000022.11:32110083:G:C p.(Glu622Asp) NC_000022.11:32110083:G:C Identity +NM_000823.4:c.151A>G NP_000814.2:p.Thr51Ala NC_000007.14:30968926:A:G p.(Thr51Ala) NC_000007.14:30968926:A:G p.(Thr51Ala) NC_000007.14:30968926:A:G Identity +NM_017767.3:c.360G>C NP_060237.3:p.Gln120His NC_000008.11:144415848:C:G p.(Gln120His) NC_000008.11:144415848:C:G p.(Gln120His) NC_000008.11:144415848:C:G Identity +NM_017890.5:c.7310C>G NP_060360.3:p.Ala2437Gly NC_000008.11:99766957:C:G p.(Ala2437Gly) NC_000008.11:99766957:C:G p.(Ala2437Gly) NC_000008.11:99766957:C:G Identity +NM_006158.5:c.339G>C NP_006149.2:p.Gln113His NC_000008.11:24956176:C:G p.(Gln113His) NC_000008.11:24956176:C:G p.(Gln113His) NC_000008.11:24956176:C:G Identity +NM_001079911.3:c.1486G>A NP_001073380.1:p.Gly496Ser NC_000004.12:87663311:G:A p.(Gly496Ser) NC_000004.12:87663311:G:A p.(Gly496Ser) NC_000004.12:87663311:G:A Identity +NM_000477.7:c.248C>T NP_000468.1:p.Ala83Val NC_000004.12:73406738:C:T p.(Ala83Val) NC_000004.12:73406738:C:T p.(Ala83Val) NC_000004.12:73406738:C:T Identity +NM_000038.6:c.3901A>T NP_000029.2:p.Thr1301Ser NC_000005.10:112839494:A:T p.(Thr1301Ser) NC_000005.10:112839494:A:T p.(Thr1301Ser) NC_000005.10:112839494:A:T Identity +NM_006929.5:c.2464C>G NP_008860.4:p.Gln822Glu NC_000006.12:31967126:C:G p.(Gln822Glu) NC_000006.12:31967126:C:G p.(Gln822Glu) NC_000006.12:31967126:C:G Identity +NM_025074.7:c.10724T>C NP_079350.5:p.Ile3575Thr NC_000004.12:78522723:T:C p.(Ile3575Thr) NC_000004.12:78522723:T:C p.(Ile3575Thr) NC_000004.12:78522723:T:C Identity +NM_001010892.3:c.287C>T NP_001010892.1:p.Pro96Leu NC_000006.12:116616909:C:T p.(Pro96Leu) NC_000006.12:116616909:C:T p.(Pro96Leu) NC_000006.12:116616909:C:T Identity +NM_001127493.3:c.2065G>A NP_001120965.1:p.Val689Ile NC_000004.12:113287652:G:A p.(Val689Ile) NC_000004.12:113287652:G:A p.(Val689Ile) NC_000004.12:113287652:G:A Identity +NM_005908.4:c.1921C>T NP_005899.3:p.Arg641Cys NC_000004.12:102639805:G:A p.(Arg641Cys) NC_000004.12:102639805:G:A p.(Arg641Cys) NC_000004.12:102639805:G:A Identity +NM_031955.6:c.205A>G NP_114161.3:p.Ile69Val NC_000003.12:173117526:T:C p.(Ile69Val) NC_000003.12:173117526:T:C p.(Ile69Val) NC_000003.12:173117526:T:C Identity +NM_001018115.3:c.2176T>A NP_001018125.1:p.Ser726Thr NC_000003.12:10065400:T:A p.(Ser726Thr) NC_000003.12:10065400:T:A p.(Ser726Thr) NC_000003.12:10065400:T:A Identity +NM_001190241.2:c.244G>A NP_001177170.1:p.Gly82Ser NC_000003.12:160356134:C:T p.(Gly82Ser) NC_000003.12:160356134:C:T p.(Gly82Ser) NC_000003.12:160356134:C:T Identity +NM_001063.4:c.215C>T NP_001054.2:p.Ala72Val NC_000003.12:133748582:C:T p.(Ala72Val) NC_000003.12:133748582:C:T p.(Ala72Val) NC_000003.12:133748582:C:T Identity +NM_000532.5:c.182G>A NP_000523.2:p.Arg61Gln NC_000003.12:136250556:G:A p.(Arg61Gln) NC_000003.12:136250556:G:A p.(Arg61Gln) NC_000003.12:136250556:G:A Identity +NM_001280541.2:c.2860C>G NP_001267470.1:p.His954Asp NC_000003.12:129507756:C:G p.(His954Asp) NC_000003.12:129507756:C:G p.(His954Asp) NC_000003.12:129507756:C:G Identity +NM_002292.4:c.310C>T NP_002283.3:p.His104Tyr NC_000003.12:49132344:G:A p.(His104Tyr) NC_000003.12:49132344:G:A p.(His104Tyr) NC_000003.12:49132344:G:A Identity +NM_000128.4:c.1219A>G NP_000119.1:p.Thr407Ala NC_000004.12:186284174:A:G p.(Thr407Ala) NC_000004.12:186284174:A:G p.(Thr407Ala) NC_000004.12:186284174:A:G Identity +NM_003880.4:c.535T>G NP_003871.1:p.Cys179Gly NC_000006.12:112064942:T:G p.(Cys179Gly) NC_000006.12:112064942:T:G p.(Cys179Gly) NC_000006.12:112064942:T:G Identity +NM_000112.4:c.1633C>T NP_000103.2:p.Arg545Cys NC_000005.10:149981225:C:T p.(Arg545Cys) NC_000005.10:149981225:C:T p.(Arg545Cys) NC_000005.10:149981225:C:T Identity +NM_002546.4:c.332G>A NP_002537.3:p.Arg111His NC_000008.11:118932998:C:T p.(Arg111His) NC_000008.11:118932998:C:T p.(Arg111His) NC_000008.11:118932998:C:T Identity +NM_001142800.2:c.583A>C NP_001136272.1:p.Ser195Arg NC_000006.12:65494827:T:G p.(Ser195Arg) NC_000006.12:65494827:T:G p.(Ser195Arg) NC_000006.12:65494827:T:G Identity +NM_001167607.3:c.463C>A NP_001161079.1:p.Pro155Thr NC_000005.10:151267541:C:A p.(Pro155Thr) NC_000005.10:151267541:C:A p.(Pro155Thr) NC_000005.10:151267541:C:A Identity +NM_174889.5:c.136A>G NP_777549.1:p.Ile46Val NC_000005.10:61073132:A:G p.(Ile46Val) NC_000005.10:61073132:A:G p.(Ile46Val) NC_000005.10:61073132:A:G Identity +NM_000440.3:c.1776G>A NP_000431.2:p.Met592Ile NC_000005.10:149886326:C:T p.(Met592Ile) NC_000005.10:149886326:C:T p.(Met592Ile) NC_000005.10:149886326:C:T Identity +NM_000322.5:c.346G>T NP_000313.2:p.Ala116Ser NC_000006.12:42721988:C:A p.(Ala116Ser) NC_000006.12:42721988:C:A p.(Ala116Ser) NC_000006.12:42721988:C:A Identity +NM_001168370.2:c.1553G>A NP_001161842.2:p.Cys518Tyr NC_000006.12:43050074:C:T p.(Cys518Tyr) NC_000006.12:43050074:C:T p.(Cys518Tyr) NC_000006.12:43050074:C:T Identity +NM_012120.3:c.757A>G NP_036252.1:p.Lys253Glu NC_000006.12:47576550:A:G p.(Lys253Glu) NC_000006.12:47576550:A:G p.(Lys253Glu) NC_000006.12:47576550:A:G Identity +NM_017780.4:c.7468T>C NP_060250.2:p.Ser2490Pro NC_000008.11:60856747:T:C p.(Ser2490Pro) NC_000008.11:60856747:T:C p.(Ser2490Pro) NC_000008.11:60856747:T:C Identity +NM_001364858.1:c.67C>T NP_001351787.1:p.Arg23Trp NC_000007.14:4783711:C:T p.(Arg23Trp) NC_000007.14:4783711:C:T p.(Arg23Trp) NC_000007.14:4783711:C:T Identity +NM_001277115.2:c.13303G>T NP_001264044.1:p.Gly4435Cys NC_000007.14:21900119:G:T p.(Gly4435Cys) NC_000007.14:21900119:G:T p.(Gly4435Cys) NC_000007.14:21900119:G:T Identity +NM_000441.2:c.2078C>T NP_000432.1:p.Ala693Val NC_000007.14:107704373:C:T p.(Ala693Val) NC_000007.14:107704373:C:T p.(Ala693Val) NC_000007.14:107704373:C:T Identity +NM_001167595.2:c.1001C>T NP_001161067.1:p.Thr334Ile NC_000005.10:33989240:G:A p.(Thr334Ile) NC_000005.10:33989240:G:A p.(Thr334Ile) NC_000005.10:33989240:G:A Identity +NM_000501.4:c.710G>C NP_000492.2:p.Gly237Ala NC_000007.14:74048165:G:C p.(Gly237Ala) NC_000007.14:74048165:G:C p.(Gly237Ala) NC_000007.14:74048165:G:C Identity +NM_001330465.2:c.1039G>A NP_001317394.1:p.Val347Met NC_000008.11:11563049:G:A p.(Val347Met) NC_000008.11:11563049:G:A p.(Val347Met) NC_000008.11:11563049:G:A Identity +NM_000498.3:c.449C>T NP_000489.3:p.Ser150Leu NC_000008.11:142915191:G:A p.(Ser150Leu) NC_000008.11:142915191:G:A p.(Ser150Leu) NC_000008.11:142915191:G:A Identity +NM_001017995.3:c.274G>A NP_001017995.1:p.Val92Ile NC_000005.10:172394597:C:T p.(Val92Ile) NC_000005.10:172394597:C:T p.(Val92Ile) NC_000005.10:172394597:C:T Identity +NM_001127698.2:c.493C>T NP_001121170.1:p.Arg165Trp NC_000005.10:148089511:C:T p.(Arg165Trp) NC_000005.10:148089511:C:T p.(Arg165Trp) NC_000005.10:148089511:C:T Identity +NM_001104631.2:c.1274A>C NP_001098101.1:p.His425Pro NC_000005.10:58990816:T:G p.(His425Pro) NC_000005.10:58990816:T:G p.(His425Pro) NC_000005.10:58990816:T:G Identity +NM_001145853.1:c.2225G>A NP_001139325.1:p.Cys742Tyr NC_000004.12:6302019:G:A p.(Cys742Tyr) NC_000004.12:6302019:G:A p.(Cys742Tyr) NC_000004.12:6302019:G:A Identity +NM_001098484.3:c.2040C>A NP_001091954.1:p.Asn680Lys NC_000004.12:71497565:C:A p.(Asn680Lys) NC_000004.12:71497565:C:A p.(Asn680Lys) NC_000004.12:71497565:C:A Identity +NM_005419.4:c.443G>A NP_005410.1:p.Arg148Gln NC_000012.12:56355470:C:T p.(Arg148Gln) NC_000012.12:56355470:C:T p.(Arg148Gln) NC_000012.12:56355470:C:T Identity +NM_032119.4:c.5674C>T NP_115495.3:p.His1892Tyr NC_000005.10:90683594:C:T p.(His1892Tyr) NC_000005.10:90683594:C:T p.(His1892Tyr) NC_000005.10:90683594:C:T Identity +NM_020745.4:c.2701C>G NP_065796.2:p.Arg901Gly NC_000006.12:44301247:G:C p.(Arg901Gly) NC_000006.12:44301247:G:C p.(Arg901Gly) NC_000006.12:44301247:G:C Identity +NM_001363466.2:c.379A>T NP_001350395.1:p.Ile127Phe NC_000007.14:22977375:T:A p.(Ile127Phe) NC_000007.14:22977375:T:A p.(Ile127Phe) NC_000007.14:22977375:T:A Identity +NM_005045.4:c.9095T>C NP_005036.2:p.Val3032Ala NC_000007.14:103496623:A:G p.(Val3032Ala) NC_000007.14:103496623:A:G p.(Val3032Ala) NC_000007.14:103496623:A:G Identity +NM_003235.5:c.8203G>A NP_003226.4:p.Gly2735Arg NC_000008.11:133134689:G:A p.(Gly2735Arg) NC_000008.11:133134689:G:A p.(Gly2735Arg) NC_000008.11:133134689:G:A Identity +NM_000072.3:c.1163A>T NP_000063.2:p.Gln388Leu NC_000007.14:80672806:A:T p.(Gln388Leu) NC_000007.14:80672806:A:T p.(Gln388Leu) NC_000007.14:80672806:A:T Identity +NM_003923.3:c.224A>G NP_003914.1:p.Glu75Gly NC_000008.11:144475211:T:C p.(Glu75Gly) NC_000008.11:144475211:T:C p.(Glu75Gly) NC_000008.11:144475211:T:C Identity +NM_000083.3:c.1598C>G NP_000074.3:p.Thr533Ser NC_000007.14:143341943:C:G p.(Thr533Ser) NC_000007.14:143341943:C:G p.(Thr533Ser) NC_000007.14:143341943:C:G Identity +NM_000443.4:c.109G>T NP_000434.1:p.Val37Leu NC_000007.14:87472646:C:A p.(Val37Leu) NC_000007.14:87472646:C:A p.(Val37Leu) NC_000007.14:87472646:C:A Identity +NM_001277115.2:c.3545G>A NP_001264044.1:p.Arg1182Gln NC_000007.14:21601514:G:A p.(Arg1182Gln) NC_000007.14:21601514:G:A p.(Arg1182Gln) NC_000007.14:21601514:G:A Identity +NM_001080413.3:c.1447C>G NP_001073882.3:p.Pro483Ala NC_000007.14:144398971:G:C p.(Pro483Ala) NC_000007.14:144398971:G:C p.(Pro483Ala) NC_000007.14:144398971:G:C Identity +NM_001168370.2:c.268G>A NP_001161842.2:p.Gly90Arg NC_000006.12:43052520:C:T p.(Gly90Arg) NC_000006.12:43052520:C:T p.(Gly90Arg) NC_000006.12:43052520:C:T Identity +NM_017780.4:c.1856A>G NP_060250.2:p.Asp619Gly NC_000008.11:60781189:A:G p.(Asp619Gly) NC_000008.11:60781189:A:G p.(Asp619Gly) NC_000008.11:60781189:A:G Identity +NM_019098.5:c.2087G>A NP_061971.3:p.Arg696Gln NC_000008.11:86578704:C:T p.(Arg696Gln) NC_000008.11:86578704:C:T p.(Arg696Gln) NC_000008.11:86578704:C:T Identity +NM_015243.3:c.1668A>T NP_056058.2:p.Gln556His NC_000008.11:99142989:A:T p.(Gln556His) NC_000008.11:99142989:A:T p.(Gln556His) NC_000008.11:99142989:A:T Identity +NM_001350420.2:c.1663G>A NP_001337349.1:p.Ala555Thr NC_000006.12:72290712:G:A p.(Ala555Thr) NC_000006.12:72290712:G:A p.(Ala555Thr) NC_000006.12:72290712:G:A Identity +NM_001351527.2:c.5809G>T NP_001338456.1:p.Asp1937Tyr NC_000009.12:132297026:C:A p.(Asp1937Tyr) NC_000009.12:132297026:C:A p.(Asp1937Tyr) NC_000009.12:132297026:C:A Identity +NM_001351527.2:c.2698A>G NP_001338456.1:p.Thr900Ala NC_000009.12:132328899:T:C p.(Thr900Ala) NC_000009.12:132328899:T:C p.(Thr900Ala) NC_000009.12:132328899:T:C Identity +NM_001145320.2:c.541G>A NP_001138792.1:p.Val181Met NC_000009.12:133540725:G:A p.(Val181Met) NC_000009.12:133540725:G:A p.(Val181Met) NC_000009.12:133540725:G:A Identity +NM_001190458.2:c.2354A>G NP_001177387.1:p.His785Arg NC_000009.12:379887:A:G p.(His785Arg) NC_000009.12:379887:A:G p.(His785Arg) NC_000009.12:379887:A:G Identity +NM_001011649.3:c.4165A>T NP_001011649.1:p.Ser1389Cys NC_000009.12:120419799:T:A p.(Ser1389Cys) NC_000009.12:120419799:T:A p.(Ser1389Cys) NC_000009.12:120419799:T:A Identity +NM_001351527.2:c.5403A>C NP_001338456.1:p.Lys1801Asn NC_000009.12:132300774:T:G p.(Lys1801Asn) NC_000009.12:132300774:T:G p.(Lys1801Asn) NC_000009.12:132300774:T:G Identity +NM_000109.4:c.7060C>T NP_000100.3:p.Pro2354Ser NC_000023.11:31875201:G:A p.(Pro2354Ser) NC_000023.11:31875201:G:A p.(Pro2354Ser) NC_000023.11:31875201:G:A Identity +NM_001379081.2:c.2450G>A NP_001366010.1:p.Arg817Gln NC_000009.12:14819329:C:T p.(Arg817Gln) NC_000009.12:14819329:C:T p.(Arg817Gln) NC_000009.12:14819329:C:T Identity +NM_001042413.2:c.2494A>G NP_001035878.1:p.Lys832Glu NC_000009.12:3829471:T:C p.(Lys832Glu) NC_000009.12:3829471:T:C p.(Lys832Glu) NC_000009.12:3829471:T:C Identity +NM_133497.4:c.1607A>G NP_598004.1:p.Asn536Ser NC_000009.12:2729695:A:G p.(Asn536Ser) NC_000009.12:2729695:A:G p.(Asn536Ser) NC_000009.12:2729695:A:G Identity +NM_000402.4:c.1570G>A NP_000393.4:p.Glu524Lys NC_000023.11:154532067:C:T p.(Glu524Lys) NC_000023.11:154532067:C:T p.(Glu524Lys) NC_000023.11:154532067:C:T Identity +NM_001315529.2:c.253del NP_001302458.1:p.His85fs NC_000021.9:46334734:CC:C p.(His85ThrfsTer50) NC_000021.9:46334734:CC:C p.(His85ThrfsTer50) NC_000021.9:46334735:C: Analogous +NM_198386.3:c.3200G>A NP_938200.1:p.Arg1067His NC_000017.11:50596864:G:A p.(Arg1067His) NC_000017.11:50596864:G:A p.(Arg1067His) NC_000017.11:50596864:G:A Identity +NM_000876.4:c.52_58del NP_000867.3:p.Arg18fs NC_000006.12:159969289:CCGCCCGCCGCCCGC:CCGCCCGC p.(Arg18SerfsTer69) NC_000006.12:159969289:CCGCCCGCCGCCCGC:CCGCCCGC p.(Arg18SerfsTer69) NC_000006.12:159969297:CGCCCGC: Analogous +NM_000256.3:c.280G>T NP_000247.2:p.Val94Phe NC_000011.10:47351250:C:A p.(Val94Phe) NC_000011.10:47351250:C:A p.(Val94Phe) NC_000011.10:47351250:C:A Identity +NM_006269.2:c.4379G>T NP_006260.1:p.Arg1460Ile NC_000008.11:54628260:G:T p.(Arg1460Ile) NC_000008.11:54628260:G:T p.(Arg1460Ile) NC_000008.11:54628260:G:T Identity +NM_000118.4:c.766C>T NP_000109.1:p.Pro256Ser NC_000009.12:127825280:G:A p.(Pro256Ser) NC_000009.12:127825280:G:A p.(Pro256Ser) NC_000009.12:127825280:G:A Identity +NM_001018037.2:c.2693T>C NP_001018047.1:p.Val898Ala NC_000009.12:77276089:T:C p.(Val898Ala) NC_000009.12:77276089:T:C p.(Val898Ala) NC_000009.12:77276089:T:C Identity +NM_001289396.2:c.4736G>A NP_001276325.1:p.Arg1579His NC_000009.12:2191406:G:A p.(Arg1579His) NC_000009.12:2191406:G:A p.(Arg1579His) NC_000009.12:2191406:G:A Identity +NM_001190458.2:c.1479C>A NP_001177387.1:p.Asn493Lys NC_000009.12:368020:C:A p.(Asn493Lys) NC_000009.12:368020:C:A p.(Asn493Lys) NC_000009.12:368020:C:A Identity +NM_133497.4:c.707T>G NP_598004.1:p.Met236Arg NC_000009.12:2718445:T:G p.(Met236Arg) NC_000009.12:2718445:T:G p.(Met236Arg) NC_000009.12:2718445:T:G Identity +NM_001256054.3:c.703G>A NP_001242983.1:p.Val235Ile NC_000009.12:27560261:C:T p.(Val235Ile) NC_000009.12:27560261:C:T p.(Val235Ile) NC_000009.12:27560261:C:T Identity +NM_014989.7:c.1297A>G NP_055804.2:p.Thr433Ala NC_000006.12:72182767:A:G p.(Thr433Ala) NC_000006.12:72182767:A:G p.(Thr433Ala) NC_000006.12:72182767:A:G Identity +NM_178857.6:c.4028A>T NP_849188.4:p.Glu1343Val NC_000008.11:10610069:T:A p.(Glu1343Val) NC_000008.11:10610069:T:A p.(Glu1343Val) NC_000008.11:10610069:T:A Identity +NM_001127505.3:c.1126G>A NP_001120977.1:p.Glu376Lys NC_000008.11:18057577:C:T p.(Glu376Lys) NC_000008.11:18057577:C:T p.(Glu376Lys) NC_000008.11:18057577:C:T Identity +NM_001190458.2:c.5372G>A NP_001177387.1:p.Arg1791Gln NC_000009.12:446460:G:A p.(Arg1791Gln) NC_000009.12:446460:G:A p.(Arg1791Gln) NC_000009.12:446460:G:A Identity +NM_001011649.3:c.383C>T NP_001011649.1:p.Ser128Phe NC_000009.12:120545713:G:A p.(Ser128Phe) NC_000009.12:120545713:G:A p.(Ser128Phe) NC_000009.12:120545713:G:A Identity +NM_001018037.2:c.3900A>G NP_001018047.1:p.Ile1300Met NC_000009.12:77308000:A:G p.(Ile1300Met) NC_000009.12:77308000:A:G p.(Ile1300Met) NC_000009.12:77308000:A:G Identity +NM_001001557.4:c.955G>A NP_001001557.1:p.Ala319Thr NC_000008.11:96144975:C:T p.(Ala319Thr) NC_000008.11:96144975:C:T p.(Ala319Thr) NC_000008.11:96144975:C:T Identity +NM_001083885.3:c.1463C>T NP_001077354.2:p.Thr488Met NC_000009.12:114402865:G:A p.(Thr488Met) NC_000009.12:114402865:G:A p.(Thr488Met) NC_000009.12:114402865:G:A Identity +NM_001351527.2:c.7648A>G NP_001338456.1:p.Lys2550Glu NC_000009.12:132264624:T:C p.(Lys2550Glu) NC_000009.12:132264624:T:C p.(Lys2550Glu) NC_000009.12:132264624:T:C Identity +NM_001018037.2:c.5039G>T NP_001018047.1:p.Gly1680Val NC_000009.12:77318433:G:T p.(Gly1680Val) NC_000009.12:77318433:G:T p.(Gly1680Val) NC_000009.12:77318433:G:T Identity +NM_000054.7:c.742C>T NP_000045.1:p.Arg248Cys NC_000023.11:153906247:C:T p.(Arg248Cys) NC_000023.11:153906247:C:T p.(Arg248Cys) NC_000023.11:153906247:C:T Identity +NM_001177704.3:c.292C>A NP_001171175.1:p.Leu98Ile NC_000009.12:14775961:G:T p.(Leu98Ile) NC_000009.12:14775961:G:T p.(Leu98Ile) NC_000009.12:14775961:G:T Identity +NM_000132.4:c.793A>G NP_000123.1:p.Ile265Val NC_000023.11:154969546:T:C p.(Ile265Val) NC_000023.11:154969546:T:C p.(Ile265Val) NC_000023.11:154969546:T:C Identity +NM_007055.4:c.1681C>G NP_008986.2:p.Arg561Gly NC_000010.11:78009952:G:C p.(Arg561Gly) NC_000010.11:78009952:G:C p.(Arg561Gly) NC_000010.11:78009952:G:C Identity +NM_194302.4:c.3893A>T NP_919278.2:p.His1298Leu NC_000002.12:219013322:T:A p.(His1298Leu) NC_000002.12:219013322:T:A p.(His1298Leu) NC_000002.12:219013322:T:A Identity +NM_001015051.4:c.278T>A NP_001015051.3:p.Leu93Ter NC_000006.12:45422811:T:A p.(Leu93Ter) NC_000006.12:45422811:T:A p.(Leu93Ter) NC_000006.12:45422811:T:A Identity +NM_000155.4:c.936C>G NP_000146.2:p.Asn312Lys NC_000009.12:34649440:C:G p.(Asn312Lys) NC_000009.12:34649440:C:G p.(Asn312Lys) NC_000009.12:34649440:C:G Identity +NM_000459.5:c.2125C>A NP_000450.3:p.Gln709Lys NC_000009.12:27203034:C:A p.(Gln709Lys) NC_000009.12:27203034:C:A p.(Gln709Lys) NC_000009.12:27203034:C:A Identity +NM_052813.5:c.515G>A NP_434700.2:p.Ser172Asn NC_000009.12:136370952:C:T p.(Ser172Asn) NC_000009.12:136370952:C:T p.(Ser172Asn) NC_000009.12:136370952:C:T Identity +NM_000061.3:c.100G>A NP_000052.1:p.Val34Met NC_000023.11:101375184:C:T p.(Val34Met) NC_000023.11:101375184:C:T p.(Val34Met) NC_000023.11:101375184:C:T Identity +NM_016035.5:c.458C>T NP_057119.3:p.Ala153Val NC_000009.12:128332207:C:T p.(Ala153Val) NC_000009.12:128332207:C:T p.(Ala153Val) NC_000009.12:128332207:C:T Identity +NM_001321309.2:c.3577G>A NP_001308238.1:p.Glu1193Lys NC_000003.12:123657308:C:T p.(Glu1193Lys) NC_000003.12:123657308:C:T p.(Glu1193Lys) NC_000003.12:123657308:C:T Identity +NM_001302884.2:c.2816G>A NP_001289813.1:p.Arg939Gln NC_000009.12:97487293:G:A p.(Arg939Gln) NC_000009.12:97487293:G:A p.(Arg939Gln) NC_000009.12:97487293:G:A Identity +NM_001099679.2:c.1840G>A NP_001093149.1:p.Glu614Lys NC_000009.12:116699581:G:A p.(Glu614Lys) NC_000009.12:116699581:G:A p.(Glu614Lys) NC_000009.12:116699581:G:A Identity +NM_017547.4:c.184G>A NP_060017.1:p.Glu62Lys NC_000011.10:126271534:G:A p.(Glu62Lys) NC_000011.10:126271534:G:A p.(Glu62Lys) NC_000011.10:126271534:G:A Identity +NM_004990.4:c.1427C>A NP_004981.2:p.Pro476His NC_000012.12:57511755:C:A p.(Pro476His) NC_000012.12:57511755:C:A p.(Pro476His) NC_000012.12:57511755:C:A Identity +NM_181882.3:c.1797A>T NP_870998.2:p.Lys599Asn NC_000019.10:40396554:T:A p.(Lys599Asn) NC_000019.10:40396554:T:A p.(Lys599Asn) NC_000019.10:40396554:T:A Identity +NM_181882.3:c.2173C>T NP_870998.2:p.Pro725Ser NC_000019.10:40396178:G:A p.(Pro725Ser) NC_000019.10:40396178:G:A p.(Pro725Ser) NC_000019.10:40396178:G:A Identity +NM_024577.4:c.1096A>G NP_078853.2:p.Thr366Ala NC_000005.10:149031592:T:C p.(Thr366Ala) NC_000005.10:149031592:T:C p.(Thr366Ala) NC_000005.10:149031592:T:C Identity +NM_001365536.1:c.5858C>T NP_001352465.1:p.Thr1953Ile NC_000002.12:166198780:G:A p.(Thr1953Ile) NC_000002.12:166198780:G:A p.(Thr1953Ile) NC_000002.12:166198780:G:A Identity +NM_030662.4:c.841C>T NP_109587.1:p.Arg281Trp NC_000019.10:4099278:G:A p.(Arg281Trp) NC_000019.10:4099278:G:A p.(Arg281Trp) NC_000019.10:4099278:G:A Identity +NM_001306090.2:c.922_923del NP_001293019.1:p.Glu308fs NC_000004.12:5745323:GA: p.(Glu308ThrfsTer5) NC_000004.12:5745323:GA: p.(Glu308ThrfsTer5) NC_000004.12:5745323:GA: Analogous +NM_000356.4:c.3907G>T NP_000347.2:p.Glu1303Ter NC_000005.10:150396637:G:T p.(Glu1303Ter) NC_000005.10:150396637:G:T p.(Glu1303Ter) NC_000005.10:150396637:G:T Identity +NM_001317184.2:c.1907A>G NP_001304113.1:p.Lys636Arg NC_000016.10:68823551:A:G p.(Lys636Arg) NC_000016.10:68823551:A:G p.(Lys636Arg) NC_000016.10:68823551:A:G Identity +NM_016599.5:c.591del NP_057683.1:p.Ala198fs NC_000004.12:119185991:AAAAA:AAAA p.(Ala198HisfsTer17) NC_000004.12:119185991:AAAAA:AAAA p.(Ala198HisfsTer17) NC_000004.12:119185995:A: Analogous +NM_001282237.2:c.1471C>T NP_001269166.1:p.Leu491Phe NC_000014.9:99175361:G:A p.(Leu491Phe) NC_000014.9:99175361:G:A p.(Leu491Phe) NC_000014.9:99175361:G:A Identity +NM_032634.4:c.1851_1866del NP_116023.2:p.Asn617fs NC_000009.12:35092020:CAGGGCATATGCACCA: p.(Asn617LysfsTer13) NC_000009.12:35092020:CAGGGCATATGCACCA: p.(Asn617LysfsTer13) NC_000009.12:35092020:CAGGGCATATGCACCA: Analogous +NM_001282161.2:c.85G>A NP_001269090.1:p.Glu29Lys NC_000023.11:119581538:G:A p.(Glu29Lys) NC_000023.11:119581538:G:A p.(Glu29Lys) NC_000023.11:119581538:G:A Identity +NM_001256850.1:c.93634A>G NP_001243779.1:p.Thr31212Ala NC_000002.12:178539507:T:C p.(Thr31212Ala) NC_000002.12:178539507:T:C p.(Thr31212Ala) NC_000002.12:178539507:T:C Identity +NM_053025.4:c.523G>A NP_444253.3:p.Gly175Arg NC_000003.12:123738961:C:T p.(Gly175Arg) NC_000003.12:123738961:C:T p.(Gly175Arg) NC_000003.12:123738961:C:T Identity +NM_024334.3:c.1123T>C NP_077310.1:p.Trp375Arg NC_000003.12:14141714:T:C p.(Trp375Arg) NC_000003.12:14141714:T:C p.(Trp375Arg) NC_000003.12:14141714:T:C Identity +NM_000090.4:c.4384C>T NP_000081.2:p.Pro1462Ser NC_000002.12:189011756:C:T p.(Pro1462Ser) NC_000002.12:189011756:C:T p.(Pro1462Ser) NC_000002.12:189011756:C:T Identity +NM_001040142.2:c.5438T>C NP_001035232.1:p.Ile1813Thr NC_000002.12:165389243:T:C p.(Ile1813Thr) NC_000002.12:165389243:T:C p.(Ile1813Thr) NC_000002.12:165389243:T:C Identity +NM_001291285.3:c.4543G>A NP_001278214.1:p.Val1515Met NC_000004.12:125320953:G:A p.(Val1515Met) NC_000004.12:125320953:G:A p.(Val1515Met) NC_000004.12:125320953:G:A Identity +NM_001371533.1:c.222T>G NP_001358462.1:p.Ile74Met NC_000014.9:65615995:T:G p.(Ile74Met) NC_000014.9:65615995:T:G p.(Ile74Met) NC_000014.9:65615995:T:G Identity +NM_001367624.2:c.4731G>C NP_001354553.1:p.Arg1577Ser NC_000016.10:88432200:G:C p.(Arg1577Ser) NC_000016.10:88432200:G:C p.(Arg1577Ser) NC_000016.10:88432200:G:C Identity +NM_001098.3:c.2011C>T NP_001089.1:p.Arg671Trp NC_000022.11:41527344:C:T p.(Arg671Trp) NC_000022.11:41527344:C:T p.(Arg671Trp) NC_000022.11:41527344:C:T Identity +NM_001284214.2:c.878A>C NP_001271143.1:p.Gln293Pro NC_000002.12:229858920:T:G p.(Gln293Pro) NC_000002.12:229858920:T:G p.(Gln293Pro) NC_000002.12:229858920:T:G Identity +NM_001198532.1:c.1462C>G NP_001185461.1:p.Gln488Glu NC_000008.11:106706979:C:G p.(Gln488Glu) NC_000008.11:106706979:C:G p.(Gln488Glu) NC_000008.11:106706979:C:G Identity +NM_198317.3:c.1682C>A NP_938073.1:p.Ala561Glu NC_000001.11:964511:C:A p.(Ala561Glu) NC_000001.11:964511:C:A p.(Ala561Glu) NC_000001.11:964511:C:A Identity +NM_199242.3:c.2206C>A NP_954712.1:p.Gln736Lys NC_000017.11:75834416:G:T p.(Gln736Lys) NC_000017.11:75834416:G:T p.(Gln736Lys) NC_000017.11:75834416:G:T Identity +NM_000214.3:c.3245_3257del NP_000205.1:p.Ile1082fs NC_000020.11:10639897:ACCAAGCAACAGA: p.(Ile1082ArgfsTer34) NC_000020.11:10639897:ACCAAGCAACAGA: p.(Ile1082ArgfsTer34) NC_000020.11:10639897:ACCAAGCAACAGA: Analogous +NM_001131005.2:c.793A>G NP_001124477.1:p.Met265Val NC_000005.10:88731739:T:C p.(Met265Val) NC_000005.10:88731739:T:C p.(Met265Val) NC_000005.10:88731739:T:C Identity +NM_001331010.2:c.4366C>T NP_001317939.1:p.Arg1456Cys NC_000021.9:33882281:C:T p.(Arg1456Cys) NC_000021.9:33882281:C:T p.(Arg1456Cys) NC_000021.9:33882281:C:T Identity +NM_207361.6:c.399del NP_997244.4:p.Gly134fs NC_000013.11:38687742:T: p.(Gly134AlafsTer31) NC_000013.11:38687742:T: p.(Gly134AlafsTer31) NC_000013.11:38687742:T: Analogous +NM_001035507.3:c.313_319del NP_001030584.1:p.Gly105fs NC_000002.12:27053497:GGGCATGG:G p.(Gly105ProfsTer24) NC_000002.12:27053497:GGGCATGG:G p.(Gly105ProfsTer24) NC_000002.12:27053498:GGCATGG: Analogous +NM_004990.4:c.1430A>G NP_004981.2:p.Asn477Ser NC_000012.12:57511758:A:G p.(Asn477Ser) NC_000012.12:57511758:A:G p.(Asn477Ser) NC_000012.12:57511758:A:G Identity +NM_000166.6:c.72G>C NP_000157.1:p.Trp24Cys NC_000023.11:71223778:G:C p.(Trp24Cys) NC_000023.11:71223778:G:C p.(Trp24Cys) NC_000023.11:71223778:G:C Identity +NM_181882.3:c.1206G>T NP_870998.2:p.Glu402Asp NC_000019.10:40397145:C:A p.(Glu402Asp) NC_000019.10:40397145:C:A p.(Glu402Asp) NC_000019.10:40397145:C:A Identity +NM_002711.4:c.1835G>A NP_002702.2:p.Gly612Glu NC_000007.14:113879256:C:T p.(Gly612Glu) NC_000007.14:113879256:C:T p.(Gly612Glu) NC_000007.14:113879256:C:T Identity +NM_000350.3:c.2304C>G NP_000341.2:p.Ile768Met NC_000001.11:94056678:G:C p.(Ile768Met) NC_000001.11:94056678:G:C p.(Ile768Met) NC_000001.11:94056678:G:C Identity +NM_002745.5:c.968C>G NP_002736.3:p.Pro323Arg NC_000022.11:21769318:G:C p.(Pro323Arg) NC_000022.11:21769318:G:C p.(Pro323Arg) NC_000022.11:21769318:G:C Identity +NM_024649.5:c.363C>A NP_078925.3:p.Tyr121Ter NC_000011.10:66514608:C:A p.(Tyr121Ter) NC_000011.10:66514608:C:A p.(Tyr121Ter) NC_000011.10:66514608:C:A Identity +NM_015354.3:c.1890G>A NP_056169.1:p.Trp630Ter NC_000009.12:128983478:G:A p.(Trp630Ter) NC_000009.12:128983478:G:A p.(Trp630Ter) NC_000009.12:128983478:G:A Identity +NM_001346765.2:c.1710G>T NP_001333694.1:p.Gln570His NC_000017.11:29120669:C:A p.(Gln570His) NC_000017.11:29120669:C:A p.(Gln570His) NC_000017.11:29120669:C:A Identity +NM_001135242.2:c.637C>A NP_001128714.1:p.Gln213Lys NC_000008.11:133250500:G:T p.(Gln213Lys) NC_000008.11:133250500:G:T p.(Gln213Lys) NC_000008.11:133250500:G:T Identity +NM_002180.3:c.1448A>T NP_002171.2:p.Glu483Val NC_000011.10:68933823:A:T p.(Glu483Val) NC_000011.10:68933823:A:T p.(Glu483Val) NC_000011.10:68933823:A:T Identity +NM_001281303.2:c.100T>G NP_001268232.1:p.Trp34Gly NC_000009.12:92112519:A:C p.(Trp34Gly) NC_000009.12:92112519:A:C p.(Trp34Gly) NC_000009.12:92112519:A:C Identity +NM_001184772.3:c.4054G>C NP_001171701.1:p.Glu1352Gln NC_000023.11:130025354:G:C p.(Glu1352Gln) NC_000023.11:130025354:G:C p.(Glu1352Gln) NC_000023.11:130025354:G:C Identity +NM_006158.5:c.1193C>A NP_006149.2:p.Thr398Asn NC_000008.11:24953771:G:T p.(Thr398Asn) NC_000008.11:24953771:G:T p.(Thr398Asn) NC_000008.11:24953771:G:T Identity +NM_024577.4:c.1583C>T NP_078853.2:p.Ala528Val NC_000005.10:149028148:G:A p.(Ala528Val) NC_000005.10:149028148:G:A p.(Ala528Val) NC_000005.10:149028148:G:A Identity +NM_002180.3:c.185G>A NP_002171.2:p.Arg62Gln NC_000011.10:68906166:G:A p.(Arg62Gln) NC_000011.10:68906166:G:A p.(Arg62Gln) NC_000011.10:68906166:G:A Identity +NM_004990.4:c.1873C>T NP_004981.2:p.Arg625Trp NC_000012.12:57512869:C:T p.(Arg625Trp) NC_000012.12:57512869:C:T p.(Arg625Trp) NC_000012.12:57512869:C:T Identity +NM_004637.6:c.331A>G NP_004628.4:p.Ser111Gly NC_000003.12:128806521:A:G p.(Ser111Gly) NC_000003.12:128806521:A:G p.(Ser111Gly) NC_000003.12:128806521:A:G Identity +NM_001281303.2:c.640A>C NP_001268232.1:p.Met214Leu NC_000009.12:92059228:T:G p.(Met214Leu) NC_000009.12:92059228:T:G p.(Met214Leu) NC_000009.12:92059228:T:G Identity +NM_000208.4:c.224A>G NP_000199.2:p.Asp75Gly NC_000019.10:7267772:T:C p.(Asp75Gly) NC_000019.10:7267772:T:C p.(Asp75Gly) NC_000019.10:7267772:T:C Identity +NM_002303.6:c.2918C>A NP_002294.2:p.Thr973Asn NC_000001.11:65636434:C:A p.(Thr973Asn) NC_000001.11:65636434:C:A p.(Thr973Asn) NC_000001.11:65636434:C:A Identity +NM_000296.4:c.11291_11310del NP_000287.4:p.Pro3764fs NC_000016.10:2092144:CGAGCACGTGTGGACCCTGG: p.(Pro3764ArgfsTer44) NC_000016.10:2092144:CGAGCACGTGTGGACCCTGG: p.(Pro3764ArgfsTer44) NC_000016.10:2092144:CGAGCACGTGTGGACCCTGG: Analogous +NM_000088.4:c.2182G>T NP_000079.2:p.Gly728Ter NC_000017.11:50191435:C:A p.(Gly728Ter) NC_000017.11:50191435:C:A p.(Gly728Ter) NC_000017.11:50191435:C:A Identity +NM_001378974.1:c.1150C>T NP_001365903.1:p.Arg384Trp NC_000005.10:171876355:G:A p.(Arg384Trp) NC_000005.10:171876355:G:A p.(Arg384Trp) NC_000005.10:171876355:G:A Identity +NM_000251.3:c.98_99del NP_000242.1:p.Thr33fs NC_000002.12:47403286:CACA:CA p.(Thr33SerfsTer48) NC_000002.12:47403286:CACA:CA p.(Thr33SerfsTer48) NC_000002.12:47403288:CA: Analogous +NM_152726.3:c.786_787del NP_689939.1:p.Glu262fs NC_000013.11:21503071:TCTCT:TCT p.(Glu262AspfsTer11) NC_000013.11:21503071:TCTCT:TCT p.(Glu262AspfsTer11) NC_000013.11:21503071:TC: Analogous +NM_002745.5:c.238C>T NP_002736.3:p.His80Tyr NC_000022.11:21807727:G:A p.(His80Tyr) NC_000022.11:21807727:G:A p.(His80Tyr) NC_000022.11:21807727:G:A Identity +NM_001407981.1:c.656A>T NP_001394910.1:p.Asp219Val NC_000017.11:43095859:T:A p.(Asp219Val) NC_000017.11:43095859:T:A p.(Asp219Val) NC_000017.11:43095859:T:A Identity +NM_001244808.3:c.659dup NP_001231737.1:p.Gln221fs NC_000003.12:71046946:G:GG p.(Gln221SerfsTer74) NC_000003.12:71046946:G:GG p.(Gln221SerfsTer74) ERR:SPDI Analogous +NM_001008844.3:c.6359C>A NP_001008844.1:p.Pro2120Gln NC_000006.12:7585417:C:A p.(Pro2120Gln) NC_000006.12:7585417:C:A p.(Pro2120Gln) NC_000006.12:7585417:C:A Identity +NM_001293190.2:c.736T>G NP_001280119.1:p.Ser246Ala NC_000001.11:45332403:A:C p.(Ser246Ala) NC_000001.11:45332403:A:C p.(Ser246Ala) NC_000001.11:45332403:A:C Identity +NM_000384.3:c.6001A>G NP_000375.3:p.Thr2001Ala NC_000002.12:21010866:T:C p.(Thr2001Ala) NC_000002.12:21010866:T:C p.(Thr2001Ala) NC_000002.12:21010866:T:C Identity +NM_004949.5:c.2525A>G NP_004940.1:p.His842Arg NC_000018.10:31068327:T:C p.(His842Arg) NC_000018.10:31068327:T:C p.(His842Arg) NC_000018.10:31068327:T:C Identity +NM_000059.4:c.4676T>C NP_000050.3:p.Phe1559Ser NC_000013.11:32339030:T:C p.(Phe1559Ser) NC_000013.11:32339030:T:C p.(Phe1559Ser) NC_000013.11:32339030:T:C Identity +NM_001145102.2:c.130G>A NP_001138574.1:p.Glu44Lys NC_000015.10:67165296:G:A p.(Glu44Lys) NC_000015.10:67165296:G:A p.(Glu44Lys) NC_000015.10:67165296:G:A Identity +NM_000535.7:c.67G>C NP_000526.2:p.Val23Leu NC_000007.14:6005987:C:G p.(Val23Leu) NC_000007.14:6005987:C:G p.(Val23Leu) NC_000007.14:6005987:C:G Identity +NM_000238.4:c.1391T>C NP_000229.1:p.Ile464Thr NC_000007.14:150952590:A:G p.(Ile464Thr) NC_000007.14:150952590:A:G p.(Ile464Thr) NC_000007.14:150952590:A:G Identity +NM_174936.4:c.513C>A NP_777596.2:p.Tyr171Ter NC_000001.11:55046635:C:A p.(Tyr171Ter) NC_000001.11:55046635:C:A p.(Tyr171Ter) NC_000001.11:55046635:C:A Identity +NM_001008844.3:c.2743A>T NP_001008844.1:p.Met915Leu NC_000006.12:7576405:A:T p.(Met915Leu) NC_000006.12:7576405:A:T p.(Met915Leu) NC_000006.12:7576405:A:T Identity +NM_000251.3:c.881T>C NP_000242.1:p.Phe294Ser NC_000002.12:47414356:T:C p.(Phe294Ser) NC_000002.12:47414356:T:C p.(Phe294Ser) NC_000002.12:47414356:T:C Identity +NM_004949.5:c.2438A>C NP_004940.1:p.His813Pro NC_000018.10:31068963:T:G p.(His813Pro) NC_000018.10:31068963:T:G p.(His813Pro) NC_000018.10:31068963:T:G Identity +NM_000243.3:c.1501C>T NP_000234.1:p.Arg501Cys NC_000016.10:3247101:G:A p.(Arg501Cys) NC_000016.10:3247101:G:A p.(Arg501Cys) NC_000016.10:3247101:G:A Identity +NM_000038.6:c.5702C>T NP_000029.2:p.Thr1901Ile NC_000005.10:112841295:C:T p.(Thr1901Ile) NC_000005.10:112841295:C:T p.(Thr1901Ile) NC_000005.10:112841295:C:T Identity +NM_000138.5:c.121C>G NP_000129.3:p.Arg41Gly NC_000015.10:48644648:G:C p.(Arg41Gly) NC_000015.10:48644648:G:C p.(Arg41Gly) NC_000015.10:48644648:G:C Identity +NM_000456.3:c.1040T>C NP_000447.2:p.Leu347Pro NC_000012.12:56004428:T:C p.(Leu347Pro) NC_000012.12:56004428:T:C p.(Leu347Pro) NC_000012.12:56004428:T:C Identity +NM_000489.6:c.1212G>C NP_000480.3:p.Lys404Asn NC_000023.11:77684043:C:G p.(Lys404Asn) NC_000023.11:77684043:C:G p.(Lys404Asn) NC_000023.11:77684043:C:G Identity +NM_001008844.3:c.685G>A NP_001008844.1:p.Gly229Ser NC_000006.12:7562738:G:A p.(Gly229Ser) NC_000006.12:7562738:G:A p.(Gly229Ser) NC_000006.12:7562738:G:A Identity +NM_001008844.3:c.34A>C NP_001008844.1:p.Asn12His NC_000006.12:7541948:A:C p.(Asn12His) NC_000006.12:7541948:A:C p.(Asn12His) NC_000006.12:7541948:A:C Identity +NM_024675.4:c.1237A>G NP_078951.2:p.Thr413Ala NC_000016.10:23635308:T:C p.(Thr413Ala) NC_000016.10:23635308:T:C p.(Thr413Ala) NC_000016.10:23635308:T:C Identity +NM_001407240.1:c.1634G>A NP_001394169.1:p.Gly545Glu NC_000001.11:55059492:G:A p.(Gly545Glu) NC_000001.11:55059492:G:A p.(Gly545Glu) NC_000001.11:55059492:G:A Identity +NM_000335.5:c.2721G>A NP_000326.2:p.Met907Ile NC_000003.12:38585756:C:T p.(Met907Ile) NC_000003.12:38585756:C:T p.(Met907Ile) NC_000003.12:38585756:C:T Identity +NM_000179.3:c.1011G>T NP_000170.1:p.Leu337Phe NC_000002.12:47798993:G:T p.(Leu337Phe) NC_000002.12:47798993:G:T p.(Leu337Phe) NC_000002.12:47798993:G:T Identity +NM_000335.5:c.5753G>A NP_000326.2:p.Arg1918His NC_000003.12:38550615:C:T p.(Arg1918His) NC_000003.12:38550615:C:T p.(Arg1918His) NC_000003.12:38550615:C:T Identity +NM_000138.5:c.2464A>G NP_000129.3:p.Lys822Glu NC_000015.10:48495543:T:C p.(Lys822Glu) NC_000015.10:48495543:T:C p.(Lys822Glu) NC_000015.10:48495543:T:C Identity +NM_000257.4:c.5689C>T NP_000248.2:p.Arg1897Cys NC_000014.9:23413859:G:A p.(Arg1897Cys) NC_000014.9:23413859:G:A p.(Arg1897Cys) NC_000014.9:23413859:G:A Identity +NM_001008844.3:c.5987C>T NP_001008844.1:p.Thr1996Ile NC_000006.12:7585045:C:T p.(Thr1996Ile) NC_000006.12:7585045:C:T p.(Thr1996Ile) NC_000006.12:7585045:C:T Identity +NM_004329.3:c.281C>T NP_004320.2:p.Thr94Ile NC_000010.11:86892176:C:T p.(Thr94Ile) NC_000010.11:86892176:C:T p.(Thr94Ile) NC_000010.11:86892176:C:T Identity +NM_000138.5:c.7181G>A NP_000129.3:p.Arg2394Gln NC_000015.10:48427589:C:T p.(Arg2394Gln) NC_000015.10:48427589:C:T p.(Arg2394Gln) NC_000015.10:48427589:C:T Identity +NM_000138.5:c.463C>T NP_000129.3:p.Leu155Phe NC_000015.10:48596357:G:A p.(Leu155Phe) NC_000015.10:48596357:G:A p.(Leu155Phe) NC_000015.10:48596357:G:A Identity +NM_001407571.1:c.1945G>C NP_001394500.1:p.Glu649Gln NC_000017.11:43093372:C:G p.(Glu649Gln) NC_000017.11:43093372:C:G p.(Glu649Gln) NC_000017.11:43093372:C:G Identity +NM_004656.4:c.1340T>C NP_004647.1:p.Val447Ala NC_000003.12:52403804:A:G p.(Val447Ala) NC_000003.12:52403804:A:G p.(Val447Ala) NC_000003.12:52403804:A:G Identity +NM_000384.3:c.1325T>G NP_000375.3:p.Leu442Trp NC_000002.12:21032380:A:C p.(Leu442Trp) NC_000002.12:21032380:A:C p.(Leu442Trp) NC_000002.12:21032380:A:C Identity +NM_001257374.3:c.1481A>G NP_001244303.1:p.Gln494Arg NC_000001.11:156138605:A:G p.(Gln494Arg) NC_000001.11:156138605:A:G p.(Gln494Arg) NC_000001.11:156138605:A:G Identity +NM_000051.4:c.5399A>G NP_000042.3:p.Glu1800Gly NC_000011.10:108302931:A:G p.(Glu1800Gly) NC_000011.10:108302931:A:G p.(Glu1800Gly) NC_000011.10:108302931:A:G Identity +NM_001008844.3:c.4010A>T NP_001008844.1:p.Gln1337Leu NC_000006.12:7583068:A:T p.(Gln1337Leu) NC_000006.12:7583068:A:T p.(Gln1337Leu) NC_000006.12:7583068:A:T Identity +NM_000059.4:c.6722C>G NP_000050.3:p.Thr2241Arg NC_000013.11:32341076:C:G p.(Thr2241Arg) NC_000013.11:32341076:C:G p.(Thr2241Arg) NC_000013.11:32341076:C:G Identity +NM_000038.6:c.7226del NP_000029.2:p.Gly2409fs NC_000005.10:112842818:GG:G p.(Gly2409GlufsTer6) NC_000005.10:112842818:GG:G p.(Gly2409GlufsTer6) NC_000005.10:112842819:G: Analogous +NM_000384.3:c.8198T>C NP_000375.3:p.Val2733Ala NC_000002.12:21008669:A:G p.(Val2733Ala) NC_000002.12:21008669:A:G p.(Val2733Ala) NC_000002.12:21008669:A:G Identity +NM_000251.3:c.1408G>T NP_000242.1:p.Val470Leu NC_000002.12:47463051:G:T p.(Val470Leu) NC_000002.12:47463051:G:T p.(Val470Leu) NC_000002.12:47463051:G:T Identity +NM_000038.6:c.3169G>A NP_000029.2:p.Glu1057Lys NC_000005.10:112838762:G:A p.(Glu1057Lys) NC_000005.10:112838762:G:A p.(Glu1057Lys) NC_000005.10:112838762:G:A Identity +NM_001040113.2:c.4706A>G NP_001035202.1:p.Lys1569Arg NC_000016.10:15720944:T:C p.(Lys1569Arg) NC_000016.10:15720944:T:C p.(Lys1569Arg) NC_000016.10:15720944:T:C Identity +NM_024675.4:c.50dup NP_078951.2:p.Leu17fs NC_000016.10:23638127:AA:AAA p.(Leu17PhefsTer26) NC_000016.10:23638127:AA:AAA p.(Leu17PhefsTer26) ERR:SPDI Analogous +NM_174936.4:c.503C>G NP_777596.2:p.Ala168Gly NC_000001.11:55046625:C:G p.(Ala168Gly) NC_000001.11:55046625:C:G p.(Ala168Gly) NC_000001.11:55046625:C:G Identity +NM_174936.4:c.421G>A NP_777596.2:p.Asp141Asn NC_000001.11:55046543:G:A p.(Asp141Asn) NC_000001.11:55046543:G:A p.(Asp141Asn) NC_000001.11:55046543:G:A Identity +NM_000038.6:c.5791T>C NP_000029.2:p.Ser1931Pro NC_000005.10:112841384:T:C p.(Ser1931Pro) NC_000005.10:112841384:T:C p.(Ser1931Pro) NC_000005.10:112841384:T:C Identity +NM_000138.5:c.4609G>T NP_000129.3:p.Asp1537Tyr NC_000015.10:48468075:C:A p.(Asp1537Tyr) NC_000015.10:48468075:C:A p.(Asp1537Tyr) NC_000015.10:48468075:C:A Identity +NM_004949.5:c.662A>G NP_004940.1:p.Tyr221Cys NC_000018.10:31087781:T:C p.(Tyr221Cys) NC_000018.10:31087781:T:C p.(Tyr221Cys) NC_000018.10:31087781:T:C Identity +NM_000051.4:c.84_85del NP_000042.3:p.Lys29fs NC_000011.10:108227784:GAGA:GA p.(Lys29IlefsTer2) NC_000011.10:108227784:GAGA:GA p.(Lys29IlefsTer2) NC_000011.10:108227786:GA: Analogous +NM_005902.4:c.170C>A NP_005893.1:p.Thr57Lys NC_000015.10:67066323:C:A p.(Thr57Lys) NC_000015.10:67066323:C:A p.(Thr57Lys) NC_000015.10:67066323:C:A Identity +NM_001317184.2:c.128G>T NP_001304113.1:p.Arg43Leu NC_000016.10:68738375:G:T p.(Arg43Leu) NC_000016.10:68738375:G:T p.(Arg43Leu) NC_000016.10:68738375:G:T Identity +NM_001035.3:c.4886C>A NP_001026.2:p.Ser1629Tyr NC_000001.11:237610963:C:A p.(Ser1629Tyr) NC_000001.11:237610963:C:A p.(Ser1629Tyr) NC_000001.11:237610963:C:A Identity +NM_000335.5:c.2167A>G NP_000326.2:p.Ile723Val NC_000003.12:38597823:T:C p.(Ile723Val) NC_000003.12:38597823:T:C p.(Ile723Val) NC_000003.12:38597823:T:C Identity +NM_000384.3:c.10809T>G NP_000375.3:p.His3603Gln NC_000002.12:21006058:A:C p.(His3603Gln) NC_000002.12:21006058:A:C p.(His3603Gln) NC_000002.12:21006058:A:C Identity +NM_000432.4:c.298C>G NP_000423.2:p.Leu100Val NC_000012.12:110913300:G:C p.(Leu100Val) NC_000012.12:110913300:G:C p.(Leu100Val) NC_000012.12:110913300:G:C Identity +NM_024334.3:c.109T>C NP_077310.1:p.Phe37Leu NC_000003.12:14129507:T:C p.(Phe37Leu) NC_000003.12:14129507:T:C p.(Phe37Leu) NC_000003.12:14129507:T:C Identity +NM_001035.3:c.12676C>T NP_001026.2:p.Pro4226Ser NC_000001.11:237784387:C:T p.(Pro4226Ser) NC_000001.11:237784387:C:T p.(Pro4226Ser) NC_000001.11:237784387:C:T Identity +NM_001035.3:c.7912C>T NP_001026.2:p.Leu2638Phe NC_000001.11:237654360:C:T p.(Leu2638Phe) NC_000001.11:237654360:C:T p.(Leu2638Phe) NC_000001.11:237654360:C:T Identity +NM_001040633.2:c.581C>T NP_001035723.1:p.Ala194Val NC_000007.14:151632109:G:A p.(Ala194Val) NC_000007.14:151632109:G:A p.(Ala194Val) NC_000007.14:151632109:G:A Identity +NM_001008844.3:c.67G>A NP_001008844.1:p.Gly23Ser NC_000006.12:7541981:G:A p.(Gly23Ser) NC_000006.12:7541981:G:A p.(Gly23Ser) NC_000006.12:7541981:G:A Identity +NM_004949.5:c.1759C>A NP_004940.1:p.Pro587Thr NC_000018.10:31074811:G:T p.(Pro587Thr) NC_000018.10:31074811:G:T p.(Pro587Thr) NC_000018.10:31074811:G:T Identity +NM_004415.4:c.5032G>A NP_004406.2:p.Ala1678Thr NC_000006.12:7581221:G:A p.(Ala1678Thr) NC_000006.12:7581221:G:A p.(Ala1678Thr) NC_000006.12:7581221:G:A Identity +NM_001005242.3:c.1597AGA[1] NP_001005242.2:p.Arg534del NC_000012.12:32824116:TCTTCT:TCT p.(Arg534del) NC_000012.12:32824121:T:TCT ERR:Parse ERR:Parse Identity +NM_000384.3:c.5636T>G NP_000375.3:p.Ile1879Ser NC_000002.12:21011231:A:C p.(Ile1879Ser) NC_000002.12:21011231:A:C p.(Ile1879Ser) NC_000002.12:21011231:A:C Identity +NM_004949.5:c.1786G>A NP_004940.1:p.Ala596Thr NC_000018.10:31074784:C:T p.(Ala596Thr) NC_000018.10:31074784:C:T p.(Ala596Thr) NC_000018.10:31074784:C:T Identity +NM_001005242.3:c.1128dup NP_001005242.2:p.Ile377fs NC_000012.12:32868968:G:GG p.(Ile377HisfsTer10) NC_000012.12:32868968:G:GG p.(Ile377HisfsTer10) ERR:SPDI Analogous +NM_001407628.1:c.277_279delTTTinsCC NP_001394557.1:p.Phe93Profs NC_000017.11:43104889:AAA:GG p.(Phe93ProfsTer26) NC_000017.11:43104889:AAAA:AGG p.(Phe93ProfsTer26) NC_000017.11:43104889:AAA:GG Analogous +NM_001035.3:c.1573T>G NP_001026.2:p.Ser525Ala NC_000001.11:237456695:T:G p.(Ser525Ala) NC_000001.11:237456695:T:G p.(Ser525Ala) NC_000001.11:237456695:T:G Identity +NM_000465.4:c.919T>C NP_000456.2:p.Tyr307His NC_000002.12:214780954:A:G p.(Tyr307His) NC_000002.12:214780954:A:G p.(Tyr307His) NC_000002.12:214780954:A:G Identity +NM_001040113.2:c.5512G>A NP_001035202.1:p.Glu1838Lys NC_000016.10:15717152:C:T p.(Glu1838Lys) NC_000016.10:15717152:C:T p.(Glu1838Lys) NC_000016.10:15717152:C:T Identity +NM_001407240.1:c.1687G>A NP_001394169.1:p.Ala563Thr NC_000001.11:55059545:G:A p.(Ala563Thr) NC_000001.11:55059545:G:A p.(Ala563Thr) NC_000001.11:55059545:G:A Identity +NM_000256.3:c.362C>A NP_000247.2:p.Pro121Gln NC_000011.10:47350545:G:T p.(Pro121Gln) NC_000011.10:47350545:G:T p.(Pro121Gln) NC_000011.10:47350545:G:T Identity +NM_000179.3:c.1574G>C NP_000170.1:p.Ser525Thr NC_000002.12:47799556:G:C p.(Ser525Thr) NC_000002.12:47799556:G:C p.(Ser525Thr) NC_000002.12:47799556:G:C Identity +NM_000051.4:c.4772T>G NP_000042.3:p.Leu1591Trp NC_000011.10:108293472:T:G p.(Leu1591Trp) NC_000011.10:108293472:T:G p.(Leu1591Trp) NC_000011.10:108293472:T:G Identity +NM_001040113.2:c.4531C>T NP_001035202.1:p.Arg1511Trp NC_000016.10:15721489:G:A p.(Arg1511Trp) NC_000016.10:15721489:G:A p.(Arg1511Trp) NC_000016.10:15721489:G:A Identity +NM_000384.3:c.7355G>C NP_000375.3:p.Gly2452Ala NC_000002.12:21009512:C:G p.(Gly2452Ala) NC_000002.12:21009512:C:G p.(Gly2452Ala) NC_000002.12:21009512:C:G Identity +NM_000465.4:c.582G>T NP_000456.2:p.Arg194Ser NC_000002.12:214781291:C:A p.(Arg194Ser) NC_000002.12:214781291:C:A p.(Arg194Ser) NC_000002.12:214781291:C:A Identity +NM_001293192.2:c.1000C>G NP_001280121.1:p.Gln334Glu NC_000001.11:45331297:G:C p.(Gln334Glu) NC_000001.11:45331297:G:C p.(Gln334Glu) NC_000001.11:45331297:G:C Identity +NM_001035.3:c.12116G>T NP_001026.2:p.Gly4039Val NC_000001.11:237783827:G:T p.(Gly4039Val) NC_000001.11:237783827:G:T p.(Gly4039Val) NC_000001.11:237783827:G:T Identity +NM_000535.7:c.1615G>T NP_000526.2:p.Ala539Ser NC_000007.14:5987149:C:A p.(Ala539Ser) NC_000007.14:5987149:C:A p.(Ala539Ser) NC_000007.14:5987149:C:A Identity +NM_000527.5:c.694G>A NP_000518.1:p.Ala232Thr NC_000019.10:11105599:G:A p.(Ala232Thr) NC_000019.10:11105599:G:A p.(Ala232Thr) NC_000019.10:11105599:G:A Identity +NM_000251.3:c.1337A>C NP_000242.1:p.Asp446Ala NC_000002.12:47445607:A:C p.(Asp446Ala) NC_000002.12:47445607:A:C p.(Asp446Ala) NC_000002.12:47445607:A:C Identity +NM_000257.4:c.5639G>A NP_000248.2:p.Arg1880His NC_000014.9:23414022:C:T p.(Arg1880His) NC_000014.9:23414022:C:T p.(Arg1880His) NC_000014.9:23414022:C:T Identity +NM_000038.6:c.302G>T NP_000029.2:p.Gly101Val NC_000005.10:112767269:G:T p.(Gly101Val) NC_000005.10:112767269:G:T p.(Gly101Val) NC_000005.10:112767269:G:T Identity +NM_000038.6:c.3026A>G NP_000029.2:p.His1009Arg NC_000005.10:112838619:A:G p.(His1009Arg) NC_000005.10:112838619:A:G p.(His1009Arg) NC_000005.10:112838619:A:G Identity +NM_001040113.2:c.5489T>C NP_001035202.1:p.Ile1830Thr NC_000016.10:15717175:A:G p.(Ile1830Thr) NC_000016.10:15717175:A:G p.(Ile1830Thr) NC_000016.10:15717175:A:G Identity +NM_024675.4:c.2732C>G NP_078951.2:p.Thr911Ser NC_000016.10:23626251:G:C p.(Thr911Ser) NC_000016.10:23626251:G:C p.(Thr911Ser) NC_000016.10:23626251:G:C Identity +NM_000218.3:c.898G>T NP_000209.2:p.Ala300Ser NC_000011.10:2572962:G:T p.(Ala300Ser) NC_000011.10:2572962:G:T p.(Ala300Ser) NC_000011.10:2572962:G:T Identity +NM_000251.3:c.2624T>G NP_000242.1:p.Leu875Arg NC_000002.12:47480860:T:G p.(Leu875Arg) NC_000002.12:47480860:T:G p.(Leu875Arg) NC_000002.12:47480860:T:G Identity +NM_000256.3:c.236A>G NP_000247.2:p.Tyr79Cys NC_000011.10:47351294:T:C p.(Tyr79Cys) NC_000011.10:47351294:T:C p.(Tyr79Cys) NC_000011.10:47351294:T:C Identity +NM_000169.3:c.1093T>G NP_000160.1:p.Tyr365Asp NC_000023.11:101398005:A:C p.(Tyr365Asp) NC_000023.11:101398005:A:C p.(Tyr365Asp) NC_000023.11:101398005:A:C Identity +NM_000038.6:c.6617A>G NP_000029.2:p.Asn2206Ser NC_000005.10:112842210:A:G p.(Asn2206Ser) NC_000005.10:112842210:A:G p.(Asn2206Ser) NC_000005.10:112842210:A:G Identity +NM_001943.5:c.1019T>C NP_001934.2:p.Val340Ala NC_000018.10:31530990:T:C p.(Val340Ala) NC_000018.10:31530990:T:C p.(Val340Ala) NC_000018.10:31530990:T:C Identity +NM_000384.3:c.319C>T NP_000375.3:p.Pro107Ser NC_000002.12:21041001:G:A p.(Pro107Ser) NC_000002.12:21041001:G:A p.(Pro107Ser) NC_000002.12:21041001:G:A Identity +NM_000138.5:c.4277G>C NP_000129.3:p.Gly1426Ala NC_000015.10:48472609:C:G p.(Gly1426Ala) NC_000015.10:48472609:C:G p.(Gly1426Ala) NC_000015.10:48472609:C:G Identity +NM_000384.3:c.6530A>C NP_000375.3:p.Tyr2177Ser NC_000002.12:21010337:T:G p.(Tyr2177Ser) NC_000002.12:21010337:T:G p.(Tyr2177Ser) NC_000002.12:21010337:T:G Identity +NM_000384.3:c.13130T>C NP_000375.3:p.Ile4377Thr NC_000002.12:21002291:A:G p.(Ile4377Thr) NC_000002.12:21002291:A:G p.(Ile4377Thr) NC_000002.12:21002291:A:G Identity +NM_001040113.2:c.5290G>T NP_001035202.1:p.Asp1764Tyr NC_000016.10:15718340:C:A p.(Asp1764Tyr) NC_000016.10:15718340:C:A p.(Asp1764Tyr) NC_000016.10:15718340:C:A Identity +NM_001005242.3:c.2071C>G NP_001005242.2:p.Arg691Gly NC_000012.12:32802498:G:C p.(Arg691Gly) NC_000012.12:32802498:G:C p.(Arg691Gly) NC_000012.12:32802498:G:C Identity +NM_000090.4:c.2134C>T NP_000081.2:p.Pro712Ser NC_000002.12:188999481:C:T p.(Pro712Ser) NC_000002.12:188999481:C:T p.(Pro712Ser) NC_000002.12:188999481:C:T Identity +NM_000256.3:c.252_262del NP_000247.2:p.Ser85fs NC_000011.10:47351268:CCTTGGAGGAGCC:CC p.(Ser85GlnfsTer24) NC_000011.10:47351268:CCTTGGAGGAGCC:CC p.(Ser85GlnfsTer24) NC_000011.10:47351268:CCTTGGAGGAG: Analogous +NM_001024847.3:c.715G>A NP_001020018.1:p.Glu239Lys NC_000003.12:30671822:G:A p.(Glu239Lys) NC_000003.12:30671822:G:A p.(Glu239Lys) NC_000003.12:30671822:G:A Identity +NM_000179.3:c.350G>C NP_000170.1:p.Gly117Ala NC_000002.12:47791015:G:C p.(Gly117Ala) NC_000002.12:47791015:G:C p.(Gly117Ala) NC_000002.12:47791015:G:C Identity +NM_001035.3:c.5602C>A NP_001026.2:p.Leu1868Ile NC_000001.11:237614729:C:A p.(Leu1868Ile) NC_000001.11:237614729:C:A p.(Leu1868Ile) NC_000001.11:237614729:C:A Identity +NM_001040113.2:c.4342dup NP_001035202.1:p.Gln1448fs NC_000016.10:15724204:G:GG p.(Gln1448ProfsTer14) NC_000016.10:15724204:G:GG p.(Gln1448ProfsTer14) ERR:SPDI Analogous +NM_024675.4:c.33_36dup NP_078951.2:p.Glu13Ter NC_000016.10:23641121:CTCAC:CTCACTCAC p.(Glu13Ter) NC_000016.10:23641121:CTCAC:CTCACTCAC p.(Glu13Ter) ERR:SPDI Identity +NM_001407240.1:c.971T>C NP_001394169.1:p.Leu324Pro NC_000001.11:55056040:T:C p.(Leu324Pro) NC_000001.11:55056040:T:C p.(Leu324Pro) NC_000001.11:55056040:T:C Identity +NM_000258.3:c.80C>G NP_000249.1:p.Pro27Arg NC_000003.12:46863310:G:C p.(Pro27Arg) NC_000003.12:46863310:G:C p.(Pro27Arg) NC_000003.12:46863310:G:C Identity +NM_000038.6:c.5404G>A NP_000029.2:p.Glu1802Lys NC_000005.10:112840997:G:A p.(Glu1802Lys) NC_000005.10:112840997:G:A p.(Glu1802Lys) NC_000005.10:112840997:G:A Identity +NM_001408447.1:c.1186T>C NP_001395376.1:p.Ser396Pro NC_000017.11:43074381:A:G p.(Ser396Pro) NC_000017.11:43074381:A:G p.(Ser396Pro) NC_000017.11:43074381:A:G Identity +NM_000384.3:c.7559G>A NP_000375.3:p.Arg2520Gln NC_000002.12:21009308:C:T p.(Arg2520Gln) NC_000002.12:21009308:C:T p.(Arg2520Gln) NC_000002.12:21009308:C:T Identity +NM_001018007.2:c.168G>C NP_001018007.1:p.Glu56Asp NC_000015.10:63043758:G:C p.(Glu56Asp) NC_000015.10:63043758:G:C p.(Glu56Asp) NC_000015.10:63043758:G:C Identity +NM_000218.3:c.1252G>A NP_000209.2:p.Val418Ile NC_000011.10:2588712:G:A p.(Val418Ile) NC_000011.10:2588712:G:A p.(Val418Ile) NC_000011.10:2588712:G:A Identity +NM_000051.4:c.1677A>G NP_000042.3:p.Ile559Met NC_000011.10:108251905:A:G p.(Ile559Met) NC_000011.10:108251905:A:G p.(Ile559Met) NC_000011.10:108251905:A:G Identity +NM_004656.4:c.1741G>T NP_004647.1:p.Gly581Cys NC_000003.12:52403286:C:A p.(Gly581Cys) NC_000003.12:52403286:C:A p.(Gly581Cys) NC_000003.12:52403286:C:A Identity +NM_000384.3:c.13319T>C NP_000375.3:p.Val4440Ala NC_000002.12:21002102:A:G p.(Val4440Ala) NC_000002.12:21002102:A:G p.(Val4440Ala) NC_000002.12:21002102:A:G Identity +NM_004329.3:c.1281G>T NP_004320.2:p.Met427Ile NC_000010.11:86921633:G:T p.(Met427Ile) NC_000010.11:86921633:G:T p.(Met427Ile) NC_000010.11:86921633:G:T Identity +NM_000090.4:c.3745A>G NP_000081.2:p.Ile1249Val NC_000002.12:189009142:A:G p.(Ile1249Val) NC_000002.12:189009142:A:G p.(Ile1249Val) NC_000002.12:189009142:A:G Identity +NM_000090.4:c.3676G>A NP_000081.2:p.Asp1226Asn NC_000002.12:189009073:G:A p.(Asp1226Asn) NC_000002.12:189009073:G:A p.(Asp1226Asn) NC_000002.12:189009073:G:A Identity +NM_000059.4:c.586A>G NP_000050.3:p.Ser196Gly NC_000013.11:32326567:A:G p.(Ser196Gly) NC_000013.11:32326567:A:G p.(Ser196Gly) NC_000013.11:32326567:A:G Identity +NM_174936.4:c.1333C>T NP_777596.2:p.Pro445Ser NC_000001.11:55058187:C:T p.(Pro445Ser) NC_000001.11:55058187:C:T p.(Pro445Ser) NC_000001.11:55058187:C:T Identity +NM_000090.4:c.2633G>A NP_000081.2:p.Arg878His NC_000002.12:189003758:G:A p.(Arg878His) NC_000002.12:189003758:G:A p.(Arg878His) NC_000002.12:189003758:G:A Identity +NM_000455.5:c.997C>T NP_000446.1:p.Arg333Cys NC_000019.10:1223060:C:T p.(Arg333Cys) NC_000019.10:1223060:C:T p.(Arg333Cys) NC_000019.10:1223060:C:T Identity +NM_001008844.3:c.5846G>A NP_001008844.1:p.Arg1949Gln NC_000006.12:7584904:G:A p.(Arg1949Gln) NC_000006.12:7584904:G:A p.(Arg1949Gln) NC_000006.12:7584904:G:A Identity +NM_000335.5:c.193C>T NP_000326.2:p.Pro65Ser NC_000003.12:38633114:G:A p.(Pro65Ser) NC_000003.12:38633114:G:A p.(Pro65Ser) NC_000003.12:38633114:G:A Identity +NM_000432.4:c.34G>A NP_000423.2:p.Gly12Ser NC_000012.12:110919162:C:T p.(Gly12Ser) NC_000012.12:110919162:C:T p.(Gly12Ser) NC_000012.12:110919162:C:T Identity +NM_001407571.1:c.3712A>G NP_001394500.1:p.Asn1238Asp NC_000017.11:43091605:T:C p.(Asn1238Asp) NC_000017.11:43091605:T:C p.(Asn1238Asp) NC_000017.11:43091605:T:C Identity +NM_000038.6:c.7565C>T NP_000029.2:p.Pro2522Leu NC_000005.10:112843158:C:T p.(Pro2522Leu) NC_000005.10:112843158:C:T p.(Pro2522Leu) NC_000005.10:112843158:C:T Identity +NM_000251.3:c.1383T>A NP_000242.1:p.Asp461Glu NC_000002.12:47445653:T:A p.(Asp461Glu) NC_000002.12:47445653:T:A p.(Asp461Glu) NC_000002.12:47445653:T:A Identity +NM_000053.4:c.3637G>A NP_000044.2:p.Gly1213Ser NC_000013.11:51939112:C:T p.(Gly1213Ser) NC_000013.11:51939112:C:T p.(Gly1213Ser) NC_000013.11:51939112:C:T Identity +NM_000179.3:c.1940T>A NP_000170.1:p.Leu647Gln NC_000002.12:47799922:T:A p.(Leu647Gln) NC_000002.12:47799922:T:A p.(Leu647Gln) NC_000002.12:47799922:T:A Identity +NM_001035.3:c.10468G>T NP_001026.2:p.Ala3490Ser NC_000001.11:237717341:G:T p.(Ala3490Ser) NC_000001.11:237717341:G:T p.(Ala3490Ser) NC_000001.11:237717341:G:T Identity +NM_001394998.1:c.3418C>T NP_001381927.1:p.Arg1140Ter NC_000017.11:63405207:C:T p.(Arg1140Ter) NC_000017.11:63405207:C:T p.(Arg1140Ter) NC_000017.11:63405207:C:T Identity +NM_000384.3:c.11279C>T NP_000375.3:p.Ser3760Leu NC_000002.12:21005588:G:A p.(Ser3760Leu) NC_000002.12:21005588:G:A p.(Ser3760Leu) NC_000002.12:21005588:G:A Identity +NM_000059.4:c.3014T>C NP_000050.3:p.Phe1005Ser NC_000013.11:32337368:T:C p.(Phe1005Ser) NC_000013.11:32337368:T:C p.(Phe1005Ser) NC_000013.11:32337368:T:C Identity +NM_174936.4:c.188C>T NP_777596.2:p.Thr63Ile NC_000001.11:55040024:C:T p.(Thr63Ile) NC_000001.11:55040024:C:T p.(Thr63Ile) NC_000001.11:55040024:C:T Identity +NM_004656.4:c.217G>A NP_004647.1:p.Asp73Asn NC_000003.12:52408511:C:T p.(Asp73Asn) NC_000003.12:52408511:C:T p.(Asp73Asn) NC_000003.12:52408511:C:T Identity +NM_004329.3:c.949C>G NP_004320.2:p.Leu317Val NC_000010.11:86919251:C:G p.(Leu317Val) NC_000010.11:86919251:C:G p.(Leu317Val) NC_000010.11:86919251:C:G Identity +NM_001005242.3:c.2200A>G NP_001005242.2:p.Ile734Val NC_000012.12:32796265:T:C p.(Ile734Val) NC_000012.12:32796265:T:C p.(Ile734Val) NC_000012.12:32796265:T:C Identity +NM_174936.4:c.173A>G NP_777596.2:p.His58Arg NC_000001.11:55040009:A:G p.(His58Arg) NC_000001.11:55040009:A:G p.(His58Arg) NC_000001.11:55040009:A:G Identity +NM_001161529.2:c.1118A>T NP_001155001.1:p.Glu373Val NC_000024.10:1305519:A:T p.(Glu373Val) NC_000023.11:1305519:A:T p.(Glu373Val) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Identity +NM_001008844.3:c.506G>C NP_001008844.1:p.Gly169Ala NC_000006.12:7559308:G:C p.(Gly169Ala) NC_000006.12:7559308:G:C p.(Gly169Ala) NC_000006.12:7559308:G:C Identity +NM_024334.3:c.193G>T NP_077310.1:p.Ala65Ser NC_000003.12:14130851:G:T p.(Ala65Ser) NC_000003.12:14130851:G:T p.(Ala65Ser) NC_000003.12:14130851:G:T Identity +NM_001008844.3:c.2326G>A NP_001008844.1:p.Ala776Thr NC_000006.12:7574684:G:A p.(Ala776Thr) NC_000006.12:7574684:G:A p.(Ala776Thr) NC_000006.12:7574684:G:A Identity +NM_003242.6:c.188A>G NP_003233.4:p.Asn63Ser NC_000003.12:30644839:A:G p.(Asn63Ser) NC_000003.12:30644839:A:G p.(Asn63Ser) NC_000003.12:30644839:A:G Identity +NM_001943.5:c.2558A>G NP_001934.2:p.Gln853Arg NC_000018.10:31545943:A:G p.(Gln853Arg) NC_000018.10:31545943:A:G p.(Gln853Arg) NC_000018.10:31545943:A:G Identity +NM_004415.4:c.5227A>G NP_004406.2:p.Ser1743Gly NC_000006.12:7581416:A:G p.(Ser1743Gly) NC_000006.12:7581416:A:G p.(Ser1743Gly) NC_000006.12:7581416:A:G Identity +NM_001035.3:c.13078T>C NP_001026.2:p.Ser4360Pro NC_000001.11:237784789:T:C p.(Ser4360Pro) NC_000001.11:237784789:T:C p.(Ser4360Pro) NC_000001.11:237784789:T:C Identity +NM_001008844.3:c.6443C>T NP_001008844.1:p.Thr2148Ile NC_000006.12:7585501:C:T p.(Thr2148Ile) NC_000006.12:7585501:C:T p.(Thr2148Ile) NC_000006.12:7585501:C:T Identity +NM_001141945.3:c.574A>G NP_001135417.1:p.Met192Val NC_000010.11:88941270:T:C p.(Met192Val) NC_000010.11:88941270:T:C p.(Met192Val) NC_000010.11:88941270:T:C Identity +NM_021922.3:c.1463C>G NP_068741.1:p.Ala488Gly NC_000006.12:35462867:C:G p.(Ala488Gly) NC_000006.12:35462867:C:G p.(Ala488Gly) NC_000006.12:35462867:C:G Identity +NM_001126131.2:c.1685G>A NP_001119603.1:p.Arg562Gln NC_000015.10:89326638:C:T p.(Arg562Gln) NC_000015.10:89326638:C:T p.(Arg562Gln) NC_000015.10:89326638:C:T Identity +NM_001130916.3:c.980T>C NP_001124388.1:p.Met327Thr NC_000009.12:99146564:T:C p.(Met327Thr) NC_000009.12:99146564:T:C p.(Met327Thr) NC_000009.12:99146564:T:C Identity +NM_004949.5:c.1796C>G NP_004940.1:p.Pro599Arg NC_000018.10:31074774:G:C p.(Pro599Arg) NC_000018.10:31074774:G:C p.(Pro599Arg) NC_000018.10:31074774:G:C Identity +NM_000051.4:c.2758G>T NP_000042.3:p.Ala920Ser NC_000011.10:108268528:G:T p.(Ala920Ser) NC_000011.10:108268528:G:T p.(Ala920Ser) NC_000011.10:108268528:G:T Identity +NM_000059.4:c.6092C>A NP_000050.3:p.Thr2031Asn NC_000013.11:32340446:C:A p.(Thr2031Asn) NC_000013.11:32340446:C:A p.(Thr2031Asn) NC_000013.11:32340446:C:A Identity +NM_000335.5:c.246C>A NP_000326.2:p.Asp82Glu NC_000003.12:38633061:G:T p.(Asp82Glu) NC_000003.12:38633061:G:T p.(Asp82Glu) NC_000003.12:38633061:G:T Identity +NM_016239.4:c.3122C>A NP_057323.3:p.Pro1041His NC_000017.11:18121921:C:A p.(Pro1041His) NC_000017.11:18121921:C:A p.(Pro1041His) NC_000017.11:18121921:C:A Identity +NM_001319211.2:c.1601C>T NP_001306140.1:p.Pro534Leu NC_000001.11:100499281:C:T p.(Pro534Leu) NC_000001.11:100499281:C:T p.(Pro534Leu) NC_000001.11:100499281:C:T Identity +NM_006767.4:c.689A>C NP_006758.2:p.Asn230Thr NC_000022.11:20990422:A:C p.(Asn230Thr) NC_000022.11:20990422:A:C p.(Asn230Thr) NC_000022.11:20990422:A:C Identity +NM_015114.3:c.1870C>T NP_055929.1:p.Arg624Ter NC_000012.12:132734405:G:A p.(Arg624Ter) NC_000012.12:132734405:G:A p.(Arg624Ter) NC_000012.12:132734405:G:A Identity +NM_001290253.2:c.109G>T NP_001277182.1:p.Gly37Cys NC_000007.14:154052928:G:T p.(Gly37Cys) NC_000007.14:154052928:G:T p.(Gly37Cys) NC_000007.14:154052928:G:T Identity +NM_012318.3:c.1261A>T NP_036450.1:p.Met421Leu NC_000004.12:1823714:T:A p.(Met421Leu) NC_000004.12:1823714:T:A p.(Met421Leu) NC_000004.12:1823714:T:A Identity +NM_001008844.3:c.26C>A NP_001008844.1:p.Pro9Gln NC_000006.12:7541940:C:A p.(Pro9Gln) NC_000006.12:7541940:C:A p.(Pro9Gln) NC_000006.12:7541940:C:A Identity +NM_001035.3:c.13401_13410dup NP_001026.2:p.Gly4471fs NC_000001.11:237788057:ACACACAGATAC:ACACACAGATACACACAGATAC p.(Gly4471ThrfsTer54) NC_000001.11:237788057:ACACACAGATAC:ACACACAGATACACACAGATAC p.(Gly4471ThrfsTer54) ERR:SPDI Analogous +NM_024334.3:c.788_789del NP_077310.1:p.Val263fs NC_000003.12:14135811:TGTG:TG p.(Val263AspfsTer7) NC_000003.12:14135811:TGTG:TG p.(Val263AspfsTer7) NC_000003.12:14135813:TG: Analogous +NM_000314.8:c.653G>C NP_000305.3:p.Cys218Ser NC_000010.11:87957870:G:C p.(Cys218Ser) NC_000010.11:87957870:G:C p.(Cys218Ser) NC_000010.11:87957870:G:C Identity +NM_000038.6:c.1322C>T NP_000029.2:p.Pro441Leu NC_000005.10:112821904:C:T p.(Pro441Leu) NC_000005.10:112821904:C:T p.(Pro441Leu) NC_000005.10:112821904:C:T Identity +NM_030665.4:c.3760A>G NP_109590.3:p.Asn1254Asp NC_000017.11:17796707:A:G p.(Asn1254Asp) NC_000017.11:17796707:A:G p.(Asn1254Asp) NC_000017.11:17796707:A:G Identity +NM_005359.6:c.616T>G NP_005350.1:p.Ser206Ala NC_000018.10:51054941:T:G p.(Ser206Ala) NC_000018.10:51054941:T:G p.(Ser206Ala) NC_000018.10:51054941:T:G Identity +NM_000179.3:c.2254G>A NP_000170.1:p.Gly752Ser NC_000002.12:47800236:G:A p.(Gly752Ser) NC_000002.12:47800236:G:A p.(Gly752Ser) NC_000002.12:47800236:G:A Identity +NM_000179.3:c.1825C>G NP_000170.1:p.Leu609Val NC_000002.12:47799807:C:G p.(Leu609Val) NC_000002.12:47799807:C:G p.(Leu609Val) NC_000002.12:47799807:C:G Identity +NM_000038.6:c.6424A>C NP_000029.2:p.Ile2142Leu NC_000005.10:112842017:A:C p.(Ile2142Leu) NC_000005.10:112842017:A:C p.(Ile2142Leu) NC_000005.10:112842017:A:C Identity +NM_000052.7:c.4469dup NP_000043.4:p.Asp1491fs NC_000023.11:78046533:GGG:GGGG p.(Asp1491ArgfsTer6) NC_000023.11:78046533:GGG:GGGG p.(Asp1491ArgfsTer6) ERR:SPDI Analogous +NM_001098802.3:c.1604T>G NP_001092272.1:p.Phe535Cys NC_000009.12:78264291:T:G p.(Phe535Cys) NC_000009.12:78264291:T:G p.(Phe535Cys) NC_000009.12:78264291:T:G Identity +NM_000059.4:c.1429C>T NP_000050.3:p.His477Tyr NC_000013.11:32332906:C:T p.(His477Tyr) NC_000013.11:32332906:C:T p.(His477Tyr) NC_000013.11:32332906:C:T Identity +NM_001035.3:c.10982T>C NP_001026.2:p.Val3661Ala NC_000001.11:237732091:T:C p.(Val3661Ala) NC_000001.11:237732091:T:C p.(Val3661Ala) NC_000001.11:237732091:T:C Identity +NM_174936.4:c.375G>C NP_777596.2:p.Lys125Asn NC_000001.11:55044009:G:C p.(Lys125Asn) NC_000001.11:55044009:G:C p.(Lys125Asn) NC_000001.11:55044009:G:C Identity +NM_000090.4:c.3869T>C NP_000081.2:p.Ile1290Thr NC_000002.12:189010222:T:C p.(Ile1290Thr) NC_000002.12:189010222:T:C p.(Ile1290Thr) NC_000002.12:189010222:T:C Identity +NM_000179.3:c.710G>T NP_000170.1:p.Gly237Val NC_000002.12:47798692:G:T p.(Gly237Val) NC_000002.12:47798692:G:T p.(Gly237Val) NC_000002.12:47798692:G:T Identity +NM_003124.5:c.610G>C NP_003115.1:p.Asp204His NC_000002.12:72891360:G:C p.(Asp204His) NC_000002.12:72891360:G:C p.(Asp204His) NC_000002.12:72891360:G:C Identity +NM_001308007.2:c.73A>G NP_001294936.1:p.Ser25Gly NC_000011.10:86245301:A:G p.(Ser25Gly) NC_000011.10:86245301:A:G p.(Ser25Gly) NC_000011.10:86245301:A:G Identity +NM_000179.3:c.564T>G NP_000170.1:p.Ile188Met NC_000002.12:47795999:T:G p.(Ile188Met) NC_000002.12:47795999:T:G p.(Ile188Met) NC_000002.12:47795999:T:G Identity +NM_000238.4:c.2746G>A NP_000229.1:p.Gly916Arg NC_000007.14:150947824:C:T p.(Gly916Arg) NC_000007.14:150947824:C:T p.(Gly916Arg) NC_000007.14:150947824:C:T Identity +NM_004949.5:c.1862G>T NP_004940.1:p.Arg621Ile NC_000018.10:31074708:C:A p.(Arg621Ile) NC_000018.10:31074708:C:A p.(Arg621Ile) NC_000018.10:31074708:C:A Identity +NM_001306210.2:c.415T>G NP_001293139.1:p.Cys139Gly NC_000009.12:99132567:T:G p.(Cys139Gly) NC_000009.12:99132567:T:G p.(Cys139Gly) NC_000009.12:99132567:T:G Identity +NM_001142649.2:c.454A>G NP_001136121.1:p.Ile152Val NC_000011.10:22227394:A:G p.(Ile152Val) NC_000011.10:22227394:A:G p.(Ile152Val) NC_000011.10:22227394:A:G Identity +NM_001301226.2:c.28A>T NP_001288155.1:p.Met10Leu NC_000009.12:35689789:T:A p.(Met10Leu) NC_000009.12:35689789:T:A p.(Met10Leu) NC_000009.12:35689789:T:A Identity +NM_001206729.2:c.1241A>G NP_001193658.1:p.Tyr414Cys NC_000001.11:243545519:T:C p.(Tyr414Cys) NC_000001.11:243545519:T:C p.(Tyr414Cys) NC_000001.11:243545519:T:C Identity +NM_001035.3:c.8528T>C NP_001026.2:p.Met2843Thr NC_000001.11:237667895:T:C p.(Met2843Thr) NC_000001.11:237667895:T:C p.(Met2843Thr) NC_000001.11:237667895:T:C Identity +NM_001407240.1:c.652G>T NP_001394169.1:p.Gly218Cys NC_000001.11:55052282:G:T p.(Gly218Cys) NC_000001.11:55052282:G:T p.(Gly218Cys) NC_000001.11:55052282:G:T Identity +NM_001282625.2:c.202G>A NP_001269554.1:p.Glu68Lys NC_000001.11:156115119:G:A p.(Glu68Lys) NC_000001.11:156115119:G:A p.(Glu68Lys) NC_000001.11:156115119:G:A Identity +NM_032043.3:c.3504A>C NP_114432.2:p.Lys1168Asn NC_000017.11:61683541:T:G p.(Lys1168Asn) NC_000017.11:61683541:T:G p.(Lys1168Asn) NC_000017.11:61683541:T:G Identity +NM_024675.4:c.1946A>C NP_078951.2:p.Lys649Thr NC_000016.10:23630207:T:G p.(Lys649Thr) NC_000016.10:23630207:T:G p.(Lys649Thr) NC_000016.10:23630207:T:G Identity +NM_032043.3:c.1133G>T NP_114432.2:p.Arg378Met NC_000017.11:61801259:C:A p.(Arg378Met) NC_000017.11:61801259:C:A p.(Arg378Met) NC_000017.11:61801259:C:A Identity +NM_000038.6:c.3271C>T NP_000029.2:p.Pro1091Ser NC_000005.10:112838864:C:T p.(Pro1091Ser) NC_000005.10:112838864:C:T p.(Pro1091Ser) NC_000005.10:112838864:C:T Identity +LRG_292t1:c.3539G>C LRG_292p1:p.Ser1180Thr NC_000017.11:43091991:C:G ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_000038.6:c.4382A>G NP_000029.2:p.Glu1461Gly NC_000005.10:112839975:A:G p.(Glu1461Gly) NC_000005.10:112839975:A:G p.(Glu1461Gly) NC_000005.10:112839975:A:G Identity +NM_001099404.2:c.697A>T NP_001092874.1:p.Ile233Phe NC_000003.12:38613980:T:A p.(Ile233Phe) NC_000003.12:38613980:T:A p.(Ile233Phe) NC_000003.12:38613980:T:A Identity +NM_001079846.1:c.62G>A NP_001073315.1:p.Gly21Asp NC_000016.10:3879854:C:T p.(Gly21Asp) NC_000016.10:3879854:C:T p.(Gly21Asp) NC_000016.10:3879854:C:T Identity +NM_000346.4:c.710dup NP_000337.1:p.Pro238fs NC_000017.11:72123563:CCCC:CCCCC p.(Pro238ThrfsTer14) NC_000017.11:72123563:CCCC:CCCCC p.(Pro238ThrfsTer14) ERR:SPDI Analogous +NM_198578.4:c.7475G>T NP_940980.4:p.Cys2492Phe NC_000012.12:40367655:G:T p.(Cys2492Phe) NC_000012.12:40367655:G:T p.(Cys2492Phe) NC_000012.12:40367655:G:T Identity +NM_001308275.2:c.275C>T NP_001295204.1:p.Ser92Leu NC_000010.11:93758818:C:T p.(Ser92Leu) NC_000010.11:93758818:C:T p.(Ser92Leu) NC_000010.11:93758818:C:T Identity +NM_006445.4:c.1208C>T NP_006436.3:p.Ala403Val NC_000017.11:1679689:G:A p.(Ala403Val) NC_000017.11:1679689:G:A p.(Ala403Val) NC_000017.11:1679689:G:A Identity +NM_001407240.1:c.1242C>A NP_001394169.1:p.Ser414Arg NC_000001.11:55057452:C:A p.(Ser414Arg) NC_000001.11:55057452:C:A p.(Ser414Arg) NC_000001.11:55057452:C:A Identity +NM_001040113.2:c.506G>A NP_001035202.1:p.Arg169Gln NC_000016.10:15798683:C:T p.(Arg169Gln) NC_000016.10:15798683:C:T p.(Arg169Gln) NC_000016.10:15798683:C:T Identity +NM_000059.4:c.6350G>C NP_000050.3:p.Cys2117Ser NC_000013.11:32340704:G:C p.(Cys2117Ser) NC_000013.11:32340704:G:C p.(Cys2117Ser) NC_000013.11:32340704:G:C Identity +NM_001407240.1:c.1015A>G NP_001394169.1:p.Asn339Asp NC_000001.11:55056084:A:G p.(Asn339Asp) NC_000001.11:55056084:A:G p.(Asn339Asp) NC_000001.11:55056084:A:G Identity +NM_000256.3:c.779T>C NP_000247.2:p.Met260Thr NC_000011.10:47347898:A:G p.(Met260Thr) NC_000011.10:47347898:A:G p.(Met260Thr) NC_000011.10:47347898:A:G Identity +NM_001008844.3:c.3616T>C NP_001008844.1:p.Cys1206Arg NC_000006.12:7582674:T:C p.(Cys1206Arg) NC_000006.12:7582674:T:C p.(Cys1206Arg) NC_000006.12:7582674:T:C Identity +NM_000256.3:c.449C>T NP_000247.2:p.Pro150Leu NC_000011.10:47350069:G:A p.(Pro150Leu) NC_000011.10:47350069:G:A p.(Pro150Leu) NC_000011.10:47350069:G:A Identity +NM_024675.4:c.317C>G NP_078951.2:p.Ser106Cys NC_000016.10:23636228:G:C p.(Ser106Cys) NC_000016.10:23636228:G:C p.(Ser106Cys) NC_000016.10:23636228:G:C Identity +NM_001035.3:c.4531G>T NP_001026.2:p.Val1511Leu NC_000001.11:237595591:G:T p.(Val1511Leu) NC_000001.11:237595591:G:T p.(Val1511Leu) NC_000001.11:237595591:G:T Identity +NM_000363.5:c.362A>T NP_000354.4:p.Asn121Ile NC_000019.10:55154750:T:A p.(Asn121Ile) NC_000019.10:55154750:T:A p.(Asn121Ile) NC_000019.10:55154750:T:A Identity +NM_004949.5:c.28T>C NP_004940.1:p.Trp10Arg NC_000018.10:31101943:A:G p.(Trp10Arg) NC_000018.10:31101943:A:G p.(Trp10Arg) NC_000018.10:31101943:A:G Identity +NM_138694.4:c.126del NP_619639.3:p.Phe42fs NC_000006.12:52083181:AAAAA:AAAA p.(Phe42LeufsTer22) NC_000006.12:52083181:AAAAA:AAAA p.(Phe42LeufsTer22) NC_000006.12:52083181:A: Analogous +NM_000038.6:c.5579A>C NP_000029.2:p.Asp1860Ala NC_000005.10:112841172:A:C p.(Asp1860Ala) NC_000005.10:112841172:A:C p.(Asp1860Ala) NC_000005.10:112841172:A:C Identity +NM_000179.3:c.2363T>C NP_000170.1:p.Ile788Thr NC_000002.12:47800345:T:C p.(Ile788Thr) NC_000002.12:47800345:T:C p.(Ile788Thr) NC_000002.12:47800345:T:C Identity +NM_001040113.2:c.4964G>A NP_001035202.1:p.Arg1655His NC_000016.10:15720160:C:T p.(Arg1655His) NC_000016.10:15720160:C:T p.(Arg1655His) NC_000016.10:15720160:C:T Identity +NM_000335.5:c.3305C>T NP_000326.2:p.Ser1102Phe NC_000003.12:38579415:G:A p.(Ser1102Phe) NC_000003.12:38579415:G:A p.(Ser1102Phe) NC_000003.12:38579415:G:A Identity +NM_001347721.2:c.1015G>T NP_001334650.1:p.Gly339Trp NC_000021.9:37493106:G:T p.(Gly339Trp) NC_000021.9:37493106:G:T p.(Gly339Trp) NC_000021.9:37493106:G:T Identity +NM_001365276.2:c.5103C>A NP_001352205.1:p.Phe1701Leu NC_000006.12:32070301:G:T p.(Phe1701Leu) NC_000006.12:32070301:G:T p.(Phe1701Leu) NC_000006.12:32070301:G:T Identity +NM_000109.4:c.6865C>T NP_000100.3:p.Gln2289Ter NC_000023.11:31929618:G:A p.(Gln2289Ter) NC_000023.11:31929618:G:A p.(Gln2289Ter) NC_000023.11:31929618:G:A Identity +NM_004329.3:c.476C>T NP_004320.2:p.Ser159Phe NC_000010.11:86900071:C:T p.(Ser159Phe) NC_000010.11:86900071:C:T p.(Ser159Phe) NC_000010.11:86900071:C:T Identity +NM_001005242.3:c.980G>C NP_001005242.2:p.Gly327Ala NC_000012.12:32877899:C:G p.(Gly327Ala) NC_000012.12:32877899:C:G p.(Gly327Ala) NC_000012.12:32877899:C:G Identity +NM_005359.6:c.1198A>G NP_005350.1:p.Arg400Gly NC_000018.10:51067076:A:G p.(Arg400Gly) NC_000018.10:51067076:A:G p.(Arg400Gly) NC_000018.10:51067076:A:G Identity +NM_000335.5:c.2846C>T NP_000326.2:p.Ala949Val NC_000003.12:38581312:G:A p.(Ala949Val) NC_000003.12:38581312:G:A p.(Ala949Val) NC_000003.12:38581312:G:A Identity +NM_000090.4:c.3940C>T NP_000081.2:p.His1314Tyr NC_000002.12:189010293:C:T p.(His1314Tyr) NC_000002.12:189010293:C:T p.(His1314Tyr) NC_000002.12:189010293:C:T Identity +NM_000218.3:c.1415T>C NP_000209.2:p.Leu472Pro NC_000011.10:2661981:T:C p.(Leu472Pro) NC_000011.10:2661981:T:C p.(Leu472Pro) NC_000011.10:2661981:T:C Identity +NM_001035.3:c.4801A>G NP_001026.2:p.Asn1601Asp NC_000001.11:237610878:A:G p.(Asn1601Asp) NC_000001.11:237610878:A:G p.(Asn1601Asp) NC_000001.11:237610878:A:G Identity +NM_000018.4:c.808C>T NP_000009.1:p.Pro270Ser NC_000017.11:7222231:C:T p.(Pro270Ser) NC_000017.11:7222231:C:T p.(Pro270Ser) NC_000017.11:7222231:C:T Identity +NM_000018.4:c.1896dup NP_000009.1:p.Asn633fs NC_000017.11:7225024:C:CC p.(Asn633GlnfsTer57) NC_000017.11:7225024:C:CC p.(Asn633GlnfsTer57) ERR:SPDI Analogous +NM_174936.4:c.1334C>A NP_777596.2:p.Pro445His NC_000001.11:55058188:C:A p.(Pro445His) NC_000001.11:55058188:C:A p.(Pro445His) NC_000001.11:55058188:C:A Identity +NM_000038.6:c.4805C>T NP_000029.2:p.Pro1602Leu NC_000005.10:112840398:C:T p.(Pro1602Leu) NC_000005.10:112840398:C:T p.(Pro1602Leu) NC_000005.10:112840398:C:T Identity +NM_000249.4:c.980A>C NP_000240.1:p.Gln327Pro NC_000003.12:37020404:A:C p.(Gln327Pro) NC_000003.12:37020404:A:C p.(Gln327Pro) NC_000003.12:37020404:A:C Identity +NM_001317184.2:c.710C>G NP_001304113.1:p.Ser237Cys NC_000016.10:68810218:C:G p.(Ser237Cys) NC_000016.10:68810218:C:G p.(Ser237Cys) NC_000016.10:68810218:C:G Identity +NM_000251.3:c.2458G>A NP_000242.1:p.Gly820Ser NC_000002.12:47478518:G:A p.(Gly820Ser) NC_000002.12:47478518:G:A p.(Gly820Ser) NC_000002.12:47478518:G:A Identity +NM_000335.5:c.98C>T NP_000326.2:p.Ala33Val NC_000003.12:38633209:G:A p.(Ala33Val) NC_000003.12:38633209:G:A p.(Ala33Val) NC_000003.12:38633209:G:A Identity +NM_000384.3:c.9868G>A NP_000375.3:p.Val3290Ile NC_000002.12:21006999:C:T p.(Val3290Ile) NC_000002.12:21006999:C:T p.(Val3290Ile) NC_000002.12:21006999:C:T Identity +NM_000384.3:c.6034C>T NP_000375.3:p.Arg2012Ter NC_000002.12:21010833:G:A p.(Arg2012Ter) NC_000002.12:21010833:G:A p.(Arg2012Ter) NC_000002.12:21010833:G:A Identity +NM_001008844.3:c.5870A>T NP_001008844.1:p.Gln1957Leu NC_000006.12:7584928:A:T p.(Gln1957Leu) NC_000006.12:7584928:A:T p.(Gln1957Leu) NC_000006.12:7584928:A:T Identity +NM_001407571.1:c.1792A>G NP_001394500.1:p.Met598Val NC_000017.11:43093525:T:C p.(Met598Val) NC_000017.11:43093525:T:C p.(Met598Val) NC_000017.11:43093525:T:C Identity +NM_001001523.2:c.517G>A NP_001001523.1:p.Gly173Arg NC_000001.11:151815143:C:T p.(Gly173Arg) NC_000001.11:151815143:C:T p.(Gly173Arg) NC_000001.11:151815143:C:T Identity +NM_174936.4:c.289C>T NP_777596.2:p.Arg97Cys NC_000001.11:55043923:C:T p.(Arg97Cys) NC_000001.11:55043923:C:T p.(Arg97Cys) NC_000001.11:55043923:C:T Identity +NM_000465.4:c.1752G>T NP_000456.2:p.Met584Ile NC_000002.12:214745779:C:A p.(Met584Ile) NC_000002.12:214745779:C:A p.(Met584Ile) NC_000002.12:214745779:C:A Identity +NM_001130916.3:c.193G>A NP_001124388.1:p.Val65Ile NC_000009.12:99128949:G:A p.(Val65Ile) NC_000009.12:99128949:G:A p.(Val65Ile) NC_000009.12:99128949:G:A Identity +NM_000527.5:c.760C>G NP_000518.1:p.Gln254Glu NC_000019.10:11106629:C:G p.(Gln254Glu) NC_000019.10:11106629:C:G p.(Gln254Glu) NC_000019.10:11106629:C:G Identity +NM_001024847.3:c.1448C>T NP_001020018.1:p.Thr483Ile NC_000003.12:30674222:C:T p.(Thr483Ile) NC_000003.12:30674222:C:T p.(Thr483Ile) NC_000003.12:30674222:C:T Identity +NM_004949.5:c.1673C>T NP_004940.1:p.Thr558Ile NC_000018.10:31074897:G:A p.(Thr558Ile) NC_000018.10:31074897:G:A p.(Thr558Ile) NC_000018.10:31074897:G:A Identity +NM_000169.3:c.688G>A NP_000160.1:p.Ala230Thr NC_000023.11:101398897:C:T p.(Ala230Thr) NC_000023.11:101398897:C:T p.(Ala230Thr) NC_000023.11:101398897:C:T Identity +NM_001008844.3:c.6189C>A NP_001008844.1:p.His2063Gln NC_000006.12:7585247:C:A p.(His2063Gln) NC_000006.12:7585247:C:A p.(His2063Gln) NC_000006.12:7585247:C:A Identity +NM_000238.4:c.2792C>G NP_000229.1:p.Pro931Arg NC_000007.14:150947778:G:C p.(Pro931Arg) NC_000007.14:150947778:G:C p.(Pro931Arg) NC_000007.14:150947778:G:C Identity +NM_001003800.2:c.1273T>C NP_001003800.1:p.Tyr425His NC_000009.12:92719371:A:G p.(Tyr425His) NC_000009.12:92719371:A:G p.(Tyr425His) NC_000009.12:92719371:A:G Identity +NM_004565.3:c.382A>G NP_004556.1:p.Lys128Glu NC_000001.11:10618414:A:G p.(Lys128Glu) NC_000001.11:10618414:A:G p.(Lys128Glu) NC_000001.11:10618414:A:G Identity +NM_000093.5:c.1130C>A NP_000084.3:p.Pro377His NC_000009.12:134730440:C:A p.(Pro377His) NC_000009.12:134730440:C:A p.(Pro377His) NC_000009.12:134730440:C:A Identity +NM_000180.4:c.1094G>A NP_000171.1:p.Arg365Gln NC_000017.11:8006429:G:A p.(Arg365Gln) NC_000017.11:8006429:G:A p.(Arg365Gln) NC_000017.11:8006429:G:A Identity +NM_000169.3:c.1072G>T NP_000160.1:p.Glu358Ter NC_000023.11:101398026:C:A p.(Glu358Ter) NC_000023.11:101398026:C:A p.(Glu358Ter) NC_000023.11:101398026:C:A Identity +NM_001378454.1:c.2199T>A NP_001365383.1:p.Ser733Arg NC_000002.12:73448725:T:A p.(Ser733Arg) NC_000002.12:73448725:T:A p.(Ser733Arg) NC_000002.12:73448725:T:A Identity +NM_001129765.2:c.901T>A NP_001123237.1:p.Tyr301Asn NC_000023.11:152868894:T:A p.(Tyr301Asn) NC_000023.11:152868894:T:A p.(Tyr301Asn) NC_000023.11:152868894:T:A Identity +NM_004949.5:c.946A>T NP_004940.1:p.Ile316Phe NC_000018.10:31083056:T:A p.(Ile316Phe) NC_000018.10:31083056:T:A p.(Ile316Phe) NC_000018.10:31083056:T:A Identity +NM_000527.5:c.1522A>T NP_000518.1:p.Arg508Trp NC_000019.10:11113697:A:T p.(Arg508Trp) NC_000019.10:11113697:A:T p.(Arg508Trp) NC_000019.10:11113697:A:T Identity +NM_000090.4:c.2362C>T NP_000081.2:p.Pro788Ser NC_000002.12:189001559:C:T p.(Pro788Ser) NC_000002.12:189001559:C:T p.(Pro788Ser) NC_000002.12:189001559:C:T Identity +NM_001165963.4:c.3106_3107del NP_001159435.1:p.Gln1036fs NC_000002.12:166036369:TGT:T p.(Gln1036ValfsTer4) NC_000002.12:166036369:TGT:T p.(Gln1036ValfsTer4) NC_000002.12:166036369:TG: Analogous +NM_001199427.2:c.269C>T NP_001186356.1:p.Ala90Val NC_000014.9:102871939:C:T p.(Ala90Val) NC_000014.9:102871939:C:T p.(Ala90Val) NC_000014.9:102871939:C:T Identity +NM_001204798.2:c.1436C>G NP_001191727.1:p.Ala479Gly NC_000007.14:150950109:G:C p.(Ala479Gly) NC_000007.14:150950109:G:C p.(Ala479Gly) NC_000007.14:150950109:G:C Identity +NM_001943.5:c.862G>C NP_001934.2:p.Val288Leu NC_000018.10:31524735:G:C p.(Val288Leu) NC_000018.10:31524735:G:C p.(Val288Leu) NC_000018.10:31524735:G:C Identity +NM_001005242.3:c.367T>C NP_001005242.2:p.Trp123Arg NC_000012.12:32878512:A:G p.(Trp123Arg) NC_000012.12:32878512:A:G p.(Trp123Arg) NC_000012.12:32878512:A:G Identity +NM_001008844.3:c.1226T>C NP_001008844.1:p.Met409Thr NC_000006.12:7567865:T:C p.(Met409Thr) NC_000006.12:7567865:T:C p.(Met409Thr) NC_000006.12:7567865:T:C Identity +NM_001319034.2:c.4021C>T NP_001305963.1:p.Arg1341Cys NC_000006.12:7580210:C:T p.(Arg1341Cys) NC_000006.12:7580210:C:T p.(Arg1341Cys) NC_000006.12:7580210:C:T Identity +NM_000138.5:c.3709A>G NP_000129.3:p.Thr1237Ala NC_000015.10:48485376:T:C p.(Thr1237Ala) NC_000015.10:48485376:T:C p.(Thr1237Ala) NC_000015.10:48485376:T:C Identity +NM_000277.3:c.1161C>A NP_000268.1:p.Tyr387Ter NC_000012.12:102843683:G:T p.(Tyr387Ter) NC_000012.12:102843683:G:T p.(Tyr387Ter) NC_000012.12:102843683:G:T Identity +NM_000492.4:c.2752A>G NP_000483.3:p.Ile918Val NC_000007.14:117603625:A:G p.(Ile918Val) NC_000007.14:117603625:A:G p.(Ile918Val) NC_000007.14:117603625:A:G Identity +NM_000535.7:c.1911_1912delinsAT NP_000526.2:p.Gln638Ter NC_000007.14:5986852:GC:AT p.(Gln638Ter) NC_000007.14:5986852:GC:AT p.(Gln638Ter) NC_000007.14:5986852:GC:AT Identity +NM_001081676.2:c.4835T>C NP_001075145.1:p.Leu1612Pro NC_000002.12:165091170:A:G p.(Leu1612Pro) NC_000002.12:165091170:A:G p.(Leu1612Pro) NC_000002.12:165091170:A:G Identity +NM_001039885.3:c.569G>A NP_001034974.1:p.Arg190His NC_000019.10:46756018:G:A p.(Arg190His) NC_000019.10:46756018:G:A p.(Arg190His) NC_000019.10:46756018:G:A Identity +NM_001040142.2:c.3630C>G NP_001035232.1:p.Phe1210Leu NC_000002.12:165367325:C:G p.(Phe1210Leu) NC_000002.12:165367325:C:G p.(Phe1210Leu) NC_000002.12:165367325:C:G Identity +NM_024334.3:c.1019T>G NP_077310.1:p.Phe340Cys NC_000003.12:14141610:T:G p.(Phe340Cys) NC_000003.12:14141610:T:G p.(Phe340Cys) NC_000003.12:14141610:T:G Identity +NM_000057.4:c.3451C>T NP_000048.1:p.Leu1151Phe NC_000015.10:90803612:C:T p.(Leu1151Phe) NC_000015.10:90803612:C:T p.(Leu1151Phe) NC_000015.10:90803612:C:T Identity +NM_001165963.4:c.4324G>T NP_001159435.1:p.Val1442Phe NC_000002.12:165999736:C:A p.(Val1442Phe) NC_000002.12:165999736:C:A p.(Val1442Phe) NC_000002.12:165999736:C:A Identity +NM_004429.5:c.24G>A NP_004420.1:p.Trp8Ter NC_000023.11:68829799:G:A p.(Trp8Ter) NC_000023.11:68829799:G:A p.(Trp8Ter) NC_000023.11:68829799:G:A Identity +NM_003188.4:c.143G>A NP_003179.1:p.Gly48Glu NC_000006.12:90571784:C:T p.(Gly48Glu) NC_000006.12:90571784:C:T p.(Gly48Glu) NC_000006.12:90571784:C:T Identity +NM_000077.5:c.437A>T NP_000068.1:p.Asp146Val NC_000009.12:21970921:T:A p.(Asp146Val) NC_000009.12:21970921:T:A p.(Asp146Val) NC_000009.12:21970921:T:A Identity +NM_000535.7:c.659G>T NP_000526.2:p.Ser220Ile NC_000007.14:5999153:C:A p.(Ser220Ile) NC_000007.14:5999153:C:A p.(Ser220Ile) NC_000007.14:5999153:C:A Identity +NM_001040114.2:c.5810G>A NP_001035203.1:p.Arg1937Gln NC_000016.10:15704120:C:T p.(Arg1937Gln) NC_000016.10:15704120:C:T p.(Arg1937Gln) NC_000016.10:15704120:C:T Identity +NM_000335.5:c.1182G>A NP_000326.2:p.Met394Ile NC_000003.12:38606106:C:T p.(Met394Ile) NC_000003.12:38606106:C:T p.(Met394Ile) NC_000003.12:38606106:C:T Identity +NM_001042663.3:c.2530C>T NP_001036128.2:p.Pro844Ser NC_000001.11:6468416:G:A p.(Pro844Ser) NC_000001.11:6468416:G:A p.(Pro844Ser) NC_000001.11:6468416:G:A Identity +NM_000548.5:c.1133_1136dup NP_000539.2:p.Glu379fs NC_000016.10:2061883:CGGA:CGGACGGA p.(Glu379AspfsTer9) NC_000016.10:2061883:CGGA:CGGACGGA p.(Glu379AspfsTer9) ERR:SPDI Analogous +NM_021922.3:c.91C>T NP_068741.1:p.Gln31Ter NC_000006.12:35452635:C:T p.(Gln31Ter) NC_000006.12:35452635:C:T p.(Gln31Ter) NC_000006.12:35452635:C:T Identity +NM_000946.3:c.873G>T NP_000937.1:p.Trp291Cys NC_000012.12:56741543:C:A p.(Trp291Cys) NC_000012.12:56741543:C:A p.(Trp291Cys) NC_000012.12:56741543:C:A Identity +NM_001369512.1:c.1981G>T NP_001356441.1:p.Asp661Tyr NC_000017.11:42322401:C:A p.(Asp661Tyr) NC_000017.11:42322401:C:A p.(Asp661Tyr) NC_000017.11:42322401:C:A Identity +NM_000249.4:c.1918C>G NP_000240.1:p.Pro640Ala NC_000003.12:37048537:C:G p.(Pro640Ala) NC_000003.12:37048537:C:G p.(Pro640Ala) NC_000003.12:37048537:C:G Identity +NM_000492.4:c.1219G>A NP_000483.3:p.Glu407Lys NC_000007.14:117548649:G:A p.(Glu407Lys) NC_000007.14:117548649:G:A p.(Glu407Lys) NC_000007.14:117548649:G:A Identity +NM_001195573.1:c.1933C>T NP_001182502.1:p.Pro645Ser NC_000014.9:95113198:G:A p.(Pro645Ser) NC_000014.9:95113198:G:A p.(Pro645Ser) NC_000014.9:95113198:G:A Identity +NM_001142800.2:c.8189A>G NP_001136272.1:p.Asp2730Gly NC_000006.12:63726562:T:C p.(Asp2730Gly) NC_000006.12:63726562:T:C p.(Asp2730Gly) NC_000006.12:63726562:T:C Identity +NM_001277269.2:c.170C>T NP_001264198.1:p.Ala57Val NC_000011.10:17547541:C:T p.(Ala57Val) NC_000011.10:17547541:C:T p.(Ala57Val) NC_000011.10:17547541:C:T Identity +NM_000140.5:c.47del NP_000131.2:p.Gly16fs NC_000018.10:57586573:CCC:CC p.(Gly16AlafsTer57) NC_000018.10:57586573:CCC:CC p.(Gly16AlafsTer57) NC_000018.10:57586573:C: Analogous +NM_000203.5:c.1877G>A NP_000194.2:p.Trp626Ter NC_000004.12:1004307:G:A p.(Trp626Ter) NC_000004.12:1004307:G:A p.(Trp626Ter) NC_000004.12:1004307:G:A Identity +NM_000526.5:c.907G>A NP_000517.3:p.Glu303Lys NC_000017.11:41583779:C:T p.(Glu303Lys) NC_000017.11:41583779:C:T p.(Glu303Lys) NC_000017.11:41583779:C:T Identity +NM_001024218.2:c.949C>T NP_001019389.1:p.Arg317Cys NC_000014.9:67058689:C:T p.(Arg317Cys) NC_000014.9:67058689:C:T p.(Arg317Cys) NC_000014.9:67058689:C:T Identity +NM_001195248.2:c.46C>T NP_001182177.2:p.Arg16Ter NC_000009.12:32989845:G:A p.(Arg16Ter) NC_000009.12:32989845:G:A p.(Arg16Ter) NC_000009.12:32989845:G:A Identity +NM_001297549.2:c.2522A>G NP_001284478.1:p.Gln841Arg NC_000019.10:18862040:A:G p.(Gln841Arg) NC_000019.10:18862040:A:G p.(Gln841Arg) NC_000019.10:18862040:A:G Identity +NM_000181.4:c.323C>T NP_000172.2:p.Pro108Leu NC_000007.14:65980296:G:A p.(Pro108Leu) NC_000007.14:65980296:G:A p.(Pro108Leu) NC_000007.14:65980296:G:A Identity +NM_001271520.2:c.623T>C NP_001258449.1:p.Phe208Ser NC_000010.11:77636761:A:G p.(Phe208Ser) NC_000010.11:77636761:A:G p.(Phe208Ser) NC_000010.11:77636761:A:G Identity +NM_006445.4:c.809A>G NP_006436.3:p.Asn270Ser NC_000017.11:1681534:T:C p.(Asn270Ser) NC_000017.11:1681534:T:C p.(Asn270Ser) NC_000017.11:1681534:T:C Identity +NM_002487.3:c.212A>G NP_002478.1:p.Gln71Arg NC_000015.10:23687005:T:C p.(Gln71Arg) NC_000015.10:23687005:T:C p.(Gln71Arg) NC_000015.10:23687005:T:C Identity +NM_001144951.2:c.112G>A NP_001138423.1:p.Ala38Thr NC_000003.12:52290453:G:A p.(Ala38Thr) NC_000003.12:52290453:G:A p.(Ala38Thr) NC_000003.12:52290453:G:A Identity +NM_001130438.3:c.3196A>G NP_001123910.1:p.Met1066Val NC_000009.12:128593022:A:G p.(Met1066Val) NC_000009.12:128593022:A:G p.(Met1066Val) NC_000009.12:128593022:A:G Identity +NM_001111125.3:c.956del NP_001104595.1:p.Leu319fs NC_000023.11:53255842:A: p.(Leu319HisfsTer28) NC_000023.11:53255842:A: p.(Leu319HisfsTer28) NC_000023.11:53255842:A: Analogous +NM_007371.4:c.1149G>A NP_031397.1:p.Met383Ile NC_000009.12:134045358:C:T p.(Met383Ile) NC_000009.12:134045358:C:T p.(Met383Ile) NC_000009.12:134045358:C:T Identity +NM_001282489.3:c.908C>G NP_001269418.1:p.Ala303Gly NC_000017.11:74919618:G:C p.(Ala303Gly) NC_000017.11:74919618:G:C p.(Ala303Gly) NC_000017.11:74919618:G:C Identity +NM_001317195.3:c.2087del NP_001304124.1:p.Asp696fs NC_000016.10:68695338:A: p.(Asp696AlafsTer63) NC_000016.10:68695338:A: p.(Asp696AlafsTer63) NC_000016.10:68695338:A: Analogous +NM_006371.5:c.988G>A NP_006362.1:p.Val330Ile NC_000003.12:33132619:G:A p.(Val330Ile) NC_000003.12:33132619:G:A p.(Val330Ile) NC_000003.12:33132619:G:A Identity +NM_001112808.3:c.2460dup NP_001106279.3:p.Glu821fs NC_000001.11:74489223:A:AA p.(Glu821ArgfsTer8) NC_000001.11:74489223:A:AA p.(Glu821ArgfsTer8) ERR:SPDI Analogous +NM_001313726.2:c.2065C>T NP_001300655.1:p.Arg689Ter NC_000011.10:26634211:C:T p.(Arg689Ter) NC_000011.10:26634211:C:T p.(Arg689Ter) NC_000011.10:26634211:C:T Identity +NM_000384.3:c.2089T>G NP_000375.3:p.Phe697Val NC_000002.12:21026942:A:C p.(Phe697Val) NC_000002.12:21026942:A:C p.(Phe697Val) NC_000002.12:21026942:A:C Identity +NM_000364.4:c.46C>A NP_000355.2:p.Gln16Lys NC_000001.11:201372150:G:T p.(Gln16Lys) NC_000001.11:201372150:G:T p.(Gln16Lys) NC_000001.11:201372150:G:T Identity +NM_004608.4:c.1277G>T NP_004599.2:p.Gly426Val NC_000016.10:30086258:C:A p.(Gly426Val) NC_000016.10:30086258:C:A p.(Gly426Val) NC_000016.10:30086258:C:A Identity +NM_001079846.1:c.2391G>T NP_001073315.1:p.Met797Ile NC_000016.10:3770944:C:A p.(Met797Ile) NC_000016.10:3770944:C:A p.(Met797Ile) NC_000016.10:3770944:C:A Identity +NM_001323541.2:c.947_953dup NP_001310470.1:p.His318fs NC_000010.11:101611315:TGGAGGTTG:TGGAGGTTGGAGGTTG p.(His318GlnfsTer92) NC_000010.11:101611315:TGGAGGTTG:TGGAGGTTGGAGGTTG p.(His318GlnfsTer92) ERR:SPDI Analogous +NM_001008844.3:c.621G>A NP_001008844.1:p.Trp207Ter NC_000006.12:7562674:G:A p.(Trp207Ter) NC_000006.12:7562674:G:A p.(Trp207Ter) NC_000006.12:7562674:G:A Identity +NM_001288705.3:c.349G>A NP_001275634.1:p.Val117Met NC_000005.10:150080294:C:T p.(Val117Met) NC_000005.10:150080294:C:T p.(Val117Met) NC_000005.10:150080294:C:T Identity +NM_001270.4:c.2848A>G NP_001261.2:p.Thr950Ala NC_000005.10:98881993:T:C p.(Thr950Ala) NC_000005.10:98881993:T:C p.(Thr950Ala) NC_000005.10:98881993:T:C Identity +NM_001184992.2:c.20G>C NP_001171921.1:p.Gly7Ala NC_000017.11:30971092:G:C p.(Gly7Ala) NC_000017.11:30971092:G:C p.(Gly7Ala) NC_000017.11:30971092:G:C Identity +NM_001195227.2:c.588T>A NP_001182156.1:p.Asn196Lys NC_000019.10:49168398:T:A p.(Asn196Lys) NC_000019.10:49168398:T:A p.(Asn196Lys) NC_000019.10:49168398:T:A Identity +NM_000296.4:c.8009A>G NP_000287.4:p.Gln2670Arg NC_000016.10:2105328:T:C p.(Gln2670Arg) NC_000016.10:2105328:T:C p.(Gln2670Arg) NC_000016.10:2105328:T:C Identity +NM_001039885.3:c.1366G>A NP_001034974.1:p.Gly456Ser NC_000019.10:46756815:G:A p.(Gly456Ser) NC_000019.10:46756815:G:A p.(Gly456Ser) NC_000019.10:46756815:G:A Identity +NM_001244008.2:c.393C>A NP_001230937.1:p.Asn131Lys NC_000002.12:240787286:G:T p.(Asn131Lys) NC_000002.12:240787286:G:T p.(Asn131Lys) NC_000002.12:240787286:G:T Identity +NM_006445.4:c.104G>T NP_006436.3:p.Arg35Leu NC_000017.11:1683697:C:A p.(Arg35Leu) NC_000017.11:1683697:C:A p.(Arg35Leu) NC_000017.11:1683697:C:A Identity +NM_004646.4:c.2708T>C NP_004637.1:p.Leu903Pro NC_000019.10:35841821:A:G p.(Leu903Pro) NC_000019.10:35841821:A:G p.(Leu903Pro) NC_000019.10:35841821:A:G Identity +NM_000172.4:c.259C>T NP_000163.2:p.Leu87Phe NC_000003.12:50193373:C:T p.(Leu87Phe) NC_000003.12:50193373:C:T p.(Leu87Phe) NC_000003.12:50193373:C:T Identity +NM_017934.7:c.631G>A NP_060404.4:p.Ala211Thr NC_000006.12:79026133:C:T p.(Ala211Thr) NC_000006.12:79026133:C:T p.(Ala211Thr) NC_000006.12:79026133:C:T Identity +NM_001105243.2:c.1036A>G NP_001098713.1:p.Ile346Val NC_000023.11:100407561:T:C p.(Ile346Val) NC_000023.11:100407561:T:C p.(Ile346Val) NC_000023.11:100407561:T:C Identity +NM_001304811.2:c.1200_1201insGT NP_001291740.1:p.Lys401fs NC_000012.12:4505342:A:ACA p.(Lys401ValfsTer9) NC_000012.12:4505341:T:AC p.(Lys401ValfsTer9) NC_000012.12:4505342:TA:AC Analogous +NM_001184824.4:c.1339C>T NP_001171753.1:p.Arg447Trp NC_000016.10:68352322:C:T p.(Arg447Trp) NC_000016.10:68352322:C:T p.(Arg447Trp) NC_000016.10:68352322:C:T Identity +NM_001177984.3:c.4924G>A NP_001171455.1:p.Asp1642Asn NC_000012.12:51806532:G:A p.(Asp1642Asn) NC_000012.12:51806532:G:A p.(Asp1642Asn) NC_000012.12:51806532:G:A Identity +NM_001184720.2:c.904G>C NP_001171649.1:p.Glu302Gln NC_000003.12:149026834:G:C p.(Glu302Gln) NC_000003.12:149026834:G:C p.(Glu302Gln) NC_000003.12:149026834:G:C Identity +NM_001282164.2:c.803G>C NP_001269093.1:p.Arg268Thr NC_000012.12:132621130:G:C p.(Arg268Thr) NC_000012.12:132621130:G:C p.(Arg268Thr) NC_000012.12:132621130:G:C Identity +NM_000044.6:c.188A>T NP_000035.2:p.Gln63Leu NC_000023.11:67545333:A:T p.(Gln63Leu) NC_000023.11:67545333:A:T p.(Gln63Leu) NC_000023.11:67545333:A:T Identity +NM_002860.4:c.2159T>C NP_002851.2:p.Phe720Ser NC_000010.11:95610243:A:G p.(Phe720Ser) NC_000010.11:95610243:A:G p.(Phe720Ser) NC_000010.11:95610243:A:G Identity +NM_001354609.2:c.789_790del NP_001341538.1:p.Cys264fs NC_000007.14:140801481:AT: p.(Cys264TrpfsTer3) NC_000007.14:140801481:AT: p.(Cys264TrpfsTer3) NC_000007.14:140801481:AT: Analogous +NM_001172745.3:c.716A>G NP_001166216.1:p.Asp239Gly NC_000020.11:18525813:A:G p.(Asp239Gly) NC_000020.11:18525813:A:G p.(Asp239Gly) NC_000020.11:18525813:A:G Identity +NM_001160130.2:c.49T>C NP_001153602.1:p.Trp17Arg NC_000006.12:72622237:T:C p.(Trp17Arg) NC_000006.12:72622237:T:C p.(Trp17Arg) NC_000006.12:72622237:T:C Identity +LRG_386t1:c.3785C>T LRG_386p1:p.Ala1262Val NC_000011.10:47332100:G:A ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_181672.3:c.2636C>T NP_858058.1:p.Pro879Leu NC_000023.11:71567545:C:T p.(Pro879Leu) NC_000023.11:71567545:C:T p.(Pro879Leu) NC_000023.11:71567545:C:T Identity +NM_000277.3:c.896T>C NP_000268.1:p.Phe299Ser NC_000012.12:102851702:A:G p.(Phe299Ser) NC_000012.12:102851702:A:G p.(Phe299Ser) NC_000012.12:102851702:A:G Identity +NM_004975.4:c.605C>G NP_004966.1:p.Ser202Cys NC_000020.11:49374954:G:C p.(Ser202Cys) NC_000020.11:49374954:G:C p.(Ser202Cys) NC_000020.11:49374954:G:C Identity +NM_001130081.3:c.1238T>C NP_001123553.1:p.Val413Ala NC_000003.12:171692431:A:G p.(Val413Ala) NC_000003.12:171692431:A:G p.(Val413Ala) NC_000003.12:171692431:A:G Identity +NM_000179.3:c.2288A>C NP_000170.1:p.Asp763Ala NC_000002.12:47800270:A:C p.(Asp763Ala) NC_000002.12:47800270:A:C p.(Asp763Ala) NC_000002.12:47800270:A:C Identity +NM_001195573.1:c.5138A>C NP_001182502.1:p.Asp1713Ala NC_000014.9:95094113:T:G p.(Asp1713Ala) NC_000014.9:95094113:T:G p.(Asp1713Ala) NC_000014.9:95094113:T:G Identity +NM_001195573.1:c.3143G>A NP_001182502.1:p.Trp1048Ter NC_000014.9:95105196:C:T p.(Trp1048Ter) NC_000014.9:95105196:C:T p.(Trp1048Ter) NC_000014.9:95105196:C:T Identity +NM_001407849.1:c.1526_1530del NP_001394778.1:p.Thr509fs NC_000017.11:43093856:TTTTGTTTT:TTTT p.(Thr509ArgfsTer2) NC_000017.11:43093856:TTTTGTTTT:TTTT p.(Thr509ArgfsTer2) NC_000017.11:43093856:TTTTG: Analogous +NM_001164716.1:c.263A>C NP_001158188.1:p.Gln88Pro NC_000011.10:64758246:T:G p.(Gln88Pro) NC_000011.10:64758246:T:G p.(Gln88Pro) NC_000011.10:64758246:T:G Identity +NM_006950.3:c.1258C>T NP_008881.2:p.Arg420Trp NC_000023.11:47575174:G:A p.(Arg420Trp) NC_000023.11:47575174:G:A p.(Arg420Trp) NC_000023.11:47575174:G:A Identity +NM_000426.4:c.5296G>T NP_000417.3:p.Glu1766Ter NC_000006.12:129393105:G:T p.(Glu1766Ter) NC_000006.12:129393105:G:T p.(Glu1766Ter) NC_000006.12:129393105:G:T Identity +NM_001080453.3:c.3133dup NP_001073922.2:p.Thr1045fs NC_000007.14:1485312:T:TT p.(Thr1045AsnfsTer15) NC_000007.14:1485312:T:TT p.(Thr1045AsnfsTer15) ERR:SPDI Analogous +NM_000093.5:c.3060del NP_000084.3:p.Gly1021fs NC_000009.12:134802940:T: p.(Gly1021AspfsTer53) NC_000009.12:134802940:T: p.(Gly1021AspfsTer53) NC_000009.12:134802940:T: Analogous +NM_001330495.2:c.88G>C NP_001317424.1:p.Asp30His NC_000023.11:63724569:C:G p.(Asp30His) NC_000023.11:63724569:C:G p.(Asp30His) NC_000023.11:63724569:C:G Identity +NM_001144881.2:c.1568G>A NP_001138353.1:p.Cys523Tyr NC_000012.12:42464465:C:T p.(Cys523Tyr) NC_000012.12:42464465:C:T p.(Cys523Tyr) NC_000012.12:42464465:C:T Identity +NM_001256468.2:c.390G>T NP_001243397.1:p.Glu130Asp NC_000010.11:74843246:G:T p.(Glu130Asp) NC_000010.11:74843246:G:T p.(Glu130Asp) NC_000010.11:74843246:G:T Identity +NM_001040113.2:c.1514A>T NP_001035202.1:p.Glu505Val NC_000016.10:15757908:T:A p.(Glu505Val) NC_000016.10:15757908:T:A p.(Glu505Val) NC_000016.10:15757908:T:A Identity +NM_000720.4:c.5966C>A NP_000711.1:p.Ala1989Asp NC_000003.12:53810011:C:A p.(Ala1989Asp) NC_000003.12:53810011:C:A p.(Ala1989Asp) NC_000003.12:53810011:C:A Identity +NM_001110792.2:c.1172C>T NP_001104262.1:p.Pro391Leu NC_000023.11:154030691:G:A p.(Pro391Leu) NC_000023.11:154030691:G:A p.(Pro391Leu) NC_000023.11:154030691:G:A Identity +NM_206933.4:c.6536A>G NP_996816.3:p.Tyr2179Cys NC_000001.11:215999007:T:C p.(Tyr2179Cys) NC_000001.11:215999007:T:C p.(Tyr2179Cys) NC_000001.11:215999007:T:C Identity +NM_001164665.2:c.4195A>G NP_001158137.1:p.Lys1399Glu NC_000007.14:138881421:T:C p.(Lys1399Glu) NC_000007.14:138881421:T:C p.(Lys1399Glu) NC_000007.14:138881421:T:C Identity +NM_001130823.3:c.3659C>T NP_001124295.1:p.Thr1220Ile NC_000019.10:10140192:G:A p.(Thr1220Ile) NC_000019.10:10140192:G:A p.(Thr1220Ile) NC_000019.10:10140192:G:A Identity +NM_015384.5:c.3534_3535del NP_056199.2:p.Lys1179fs NC_000005.10:37000846:AGA:A p.(Lys1179GlufsTer6) NC_000005.10:37000846:AGA:A p.(Lys1179GlufsTer6) NC_000005.10:37000847:GA: Analogous +NM_001166419.2:c.182T>G NP_001159891.1:p.Val61Gly NC_000023.11:72568866:A:C p.(Val61Gly) NC_000023.11:72568866:A:C p.(Val61Gly) NC_000023.11:72568866:A:C Identity +NM_000152.5:c.461G>A NP_000143.2:p.Arg154His NC_000017.11:80105046:G:A p.(Arg154His) NC_000017.11:80105046:G:A p.(Arg154His) NC_000017.11:80105046:G:A Identity +NM_004260.4:c.3461A>G NP_004251.4:p.Lys1154Arg NC_000008.11:144511721:T:C p.(Lys1154Arg) NC_000008.11:144511721:T:C p.(Lys1154Arg) NC_000008.11:144511721:T:C Identity +NM_001128225.3:c.1108G>A NP_001121697.2:p.Val370Met NC_000011.10:47415354:G:A p.(Val370Met) NC_000011.10:47415354:G:A p.(Val370Met) NC_000011.10:47415354:G:A Identity +NM_000018.4:c.896A>T NP_000009.1:p.Lys299Met NC_000017.11:7222683:A:T p.(Lys299Met) NC_000017.11:7222683:A:T p.(Lys299Met) NC_000017.11:7222683:A:T Identity +NM_000018.4:c.1039del NP_000009.1:p.Ala347fs NC_000017.11:7222825:GG:G p.(Ala347ProfsTer6) NC_000017.11:7222825:GG:G p.(Ala347ProfsTer6) NC_000017.11:7222826:G: Analogous +NM_000018.4:c.491T>G NP_000009.1:p.Val164Gly NC_000017.11:7221550:T:G p.(Val164Gly) NC_000017.11:7221550:T:G p.(Val164Gly) NC_000017.11:7221550:T:G Identity +NM_000243.3:c.686T>G NP_000234.1:p.Phe229Cys NC_000016.10:3254381:A:C p.(Phe229Cys) NC_000016.10:3254381:A:C p.(Phe229Cys) NC_000016.10:3254381:A:C Identity +NM_000492.4:c.1762G>A NP_000483.3:p.Glu588Lys NC_000007.14:117590434:G:A p.(Glu588Lys) NC_000007.14:117590434:G:A p.(Glu588Lys) NC_000007.14:117590434:G:A Identity +NM_005502.4:c.3215G>A NP_005493.2:p.Trp1072Ter NC_000009.12:104819611:C:T p.(Trp1072Ter) NC_000009.12:104819611:C:T p.(Trp1072Ter) NC_000009.12:104819611:C:T Identity +NM_000531.6:c.128T>C NP_000522.3:p.Leu43Pro NC_000023.11:38367340:T:C p.(Leu43Pro) NC_000023.11:38367340:T:C p.(Leu43Pro) NC_000023.11:38367340:T:C Identity +NM_001377289.1:c.1504C>T NP_001364218.1:p.Arg502Trp NC_000006.12:70234849:G:A p.(Arg502Trp) NC_000006.12:70234849:G:A p.(Arg502Trp) NC_000006.12:70234849:G:A Identity +NM_001195263.2:c.292G>A NP_001182192.1:p.Gly98Ser NC_000010.11:101024002:C:T p.(Gly98Ser) NC_000010.11:101024002:C:T p.(Gly98Ser) NC_000010.11:101024002:C:T Identity +NM_001114107.5:c.520G>A NP_001107579.1:p.Glu174Lys NC_000004.12:185506650:C:T p.(Glu174Lys) NC_000004.12:185506650:C:T p.(Glu174Lys) NC_000004.12:185506650:C:T Identity +NM_001252020.2:c.3958G>C NP_001238949.1:p.Glu1320Gln NC_000015.10:31002792:C:G p.(Glu1320Gln) NC_000015.10:31002792:C:G p.(Glu1320Gln) NC_000015.10:31002792:C:G Identity +NM_000532.5:c.876C>G NP_000523.2:p.His292Gln NC_000003.12:136298063:C:G p.(His292Gln) NC_000003.12:136298063:C:G p.(His292Gln) NC_000003.12:136298063:C:G Identity +NM_001193300.2:c.95G>C NP_001180229.1:p.Gly32Ala NC_000001.11:156154672:G:C p.(Gly32Ala) NC_000001.11:156154672:G:C p.(Gly32Ala) NC_000001.11:156154672:G:C Identity +NM_001377948.1:c.728C>G NP_001364877.1:p.Ser243Trp NC_000014.9:21324656:C:G p.(Ser243Trp) NC_000014.9:21324656:C:G p.(Ser243Trp) NC_000014.9:21324656:C:G Identity +NM_000089.4:c.343G>A NP_000080.2:p.Gly115Arg NC_000007.14:94404710:G:A p.(Gly115Arg) NC_000007.14:94404710:G:A p.(Gly115Arg) NC_000007.14:94404710:G:A Identity +NM_000059.4:c.9461A>G NP_000050.3:p.His3154Arg NC_000013.11:32394892:A:G p.(His3154Arg) NC_000013.11:32394892:A:G p.(His3154Arg) NC_000013.11:32394892:A:G Identity +NM_001008537.3:c.3524C>A NP_001008537.1:p.Ser1175Ter NC_000023.11:74741032:G:T p.(Ser1175Ter) NC_000023.11:74741032:G:T p.(Ser1175Ter) NC_000023.11:74741032:G:T Identity +NM_000251.3:c.1559G>A NP_000242.1:p.Gly520Glu NC_000002.12:47466705:G:A p.(Gly520Glu) NC_000002.12:47466705:G:A p.(Gly520Glu) NC_000002.12:47466705:G:A Identity +NM_001165966.2:c.592G>A NP_001159438.1:p.Ala198Thr NC_000017.11:6478623:C:T p.(Ala198Thr) NC_000017.11:6478623:C:T p.(Ala198Thr) NC_000017.11:6478623:C:T Identity +NM_000018.4:c.746G>A NP_000009.1:p.Trp249Ter NC_000017.11:7222074:G:A p.(Trp249Ter) NC_000017.11:7222074:G:A p.(Trp249Ter) NC_000017.11:7222074:G:A Identity +NM_000152.5:c.2161del NP_000143.2:p.Glu721fs NC_000017.11:80113333:GGGGG:GGGG p.(Glu721ArgfsTer43) NC_000017.11:80113333:GGGGG:GGGG p.(Glu721ArgfsTer43) NC_000017.11:80113337:G: Analogous +NM_001257374.3:c.214C>T NP_001244303.1:p.Gln72Ter NC_000001.11:156134438:C:T p.(Gln72Ter) NC_000001.11:156134438:C:T p.(Gln72Ter) NC_000001.11:156134438:C:T Identity +NM_000409.5:c.256G>T NP_000400.2:p.Gly86Trp NC_000006.12:42178333:G:T p.(Gly86Trp) NC_000006.12:42178333:G:T p.(Gly86Trp) NC_000006.12:42178333:G:T Identity +NM_001308133.2:c.3364A>G NP_001295062.1:p.Ser1122Gly NC_000014.9:45176195:A:G p.(Ser1122Gly) NC_000014.9:45176195:A:G p.(Ser1122Gly) NC_000014.9:45176195:A:G Identity +NM_006767.4:c.524G>T NP_006758.2:p.Arg175Met NC_000022.11:20988802:G:T p.(Arg175Met) NC_000022.11:20988802:G:T p.(Arg175Met) NC_000022.11:20988802:G:T Identity +NM_000051.4:c.2114dup NP_000042.3:p.Tyr705Ter NC_000011.10:108254028:A:AA p.(Tyr705Ter) NC_000011.10:108254028:A:AA p.(Tyr705Ter) ERR:SPDI Identity +NM_007348.4:c.1508A>G NP_031374.2:p.Asn503Ser NC_000001.11:161853297:A:G p.(Asn503Ser) NC_000001.11:161853297:A:G p.(Asn503Ser) NC_000001.11:161853297:A:G Identity +NM_001203247.2:c.398A>G NP_001190176.1:p.Tyr133Cys NC_000007.14:148829813:T:C p.(Tyr133Cys) NC_000007.14:148829813:T:C p.(Tyr133Cys) NC_000007.14:148829813:T:C Identity +NM_000136.3:c.1321_1322del NP_000127.2:p.Gln441fs NC_000009.12:95111469:TGTG:TG p.(Gln441AspfsTer76) NC_000009.12:95111469:TGTG:TG p.(Gln441AspfsTer76) NC_000009.12:95111469:TG: Analogous +NM_000038.6:c.1391dup NP_000029.2:p.His464fs NC_000005.10:112821973:A:AA p.(His464GlnfsTer5) NC_000005.10:112821973:A:AA p.(His464GlnfsTer5) ERR:SPDI Analogous +NM_001329556.3:c.91G>A NP_001316485.1:p.Val31Met NC_000019.10:1491359:G:A p.(Val31Met) NC_000019.10:1491359:G:A p.(Val31Met) NC_000019.10:1491359:G:A Identity +NM_001034850.3:c.703T>A NP_001030022.1:p.Cys235Ser NC_000005.10:16478954:A:T p.(Cys235Ser) NC_000005.10:16478954:A:T p.(Cys235Ser) NC_000005.10:16478954:A:T Identity +NM_000081.4:c.3392A>G NP_000072.2:p.Gln1131Arg NC_000001.11:235805743:T:C p.(Gln1131Arg) NC_000001.11:235805743:T:C p.(Gln1131Arg) NC_000001.11:235805743:T:C Identity +NM_000135.4:c.2716G>A NP_000126.2:p.Ala906Thr NC_000016.10:89764951:C:T p.(Ala906Thr) NC_000016.10:89764951:C:T p.(Ala906Thr) NC_000016.10:89764951:C:T Identity +NM_005359.6:c.635C>T NP_005350.1:p.Ala212Val NC_000018.10:51054960:C:T p.(Ala212Val) NC_000018.10:51054960:C:T p.(Ala212Val) NC_000018.10:51054960:C:T Identity +NM_000445.5:c.6457C>G NP_000436.2:p.Gln2153Glu NC_000008.11:143923552:G:C p.(Gln2153Glu) NC_000008.11:143923552:G:C p.(Gln2153Glu) NC_000008.11:143923552:G:C Identity +NM_000553.6:c.4116_4118del NP_000544.2:p.Arg1373del NC_000008.11:31167152:AGGAG:AG p.(Arg1373del) NC_000008.11:31167152:AGGAG:AG p.(Arg1373del) NC_000008.11:31167154:GAG: Identity +NM_000268.4:c.222G>T NP_000259.1:p.Trp74Cys NC_000022.11:29636857:G:T p.(Trp74Cys) NC_000022.11:29636857:G:T p.(Trp74Cys) NC_000022.11:29636857:G:T Identity +NM_001754.5:c.23A>G NP_001745.2:p.Glu8Gly NC_000021.9:35048876:T:C p.(Glu8Gly) NC_000021.9:35048876:T:C p.(Glu8Gly) NC_000021.9:35048876:T:C Identity +NM_001195573.1:c.3764G>A NP_001182502.1:p.Ser1255Asn NC_000014.9:95103631:C:T p.(Ser1255Asn) NC_000014.9:95103631:C:T p.(Ser1255Asn) NC_000014.9:95103631:C:T Identity +NM_000179.3:c.3608A>G NP_000170.1:p.His1203Arg NC_000002.12:47805668:A:G p.(His1203Arg) NC_000002.12:47805668:A:G p.(His1203Arg) NC_000002.12:47805668:A:G Identity +NM_001271.4:c.3614G>A NP_001262.3:p.Arg1205Lys NC_000015.10:92996974:G:A p.(Arg1205Lys) NC_000015.10:92996974:G:A p.(Arg1205Lys) NC_000015.10:92996974:G:A Identity +NM_001352252.2:c.251G>A NP_001339181.1:p.Arg84Gln NC_000013.11:110651050:C:T p.(Arg84Gln) NC_000013.11:110651050:C:T p.(Arg84Gln) NC_000013.11:110651050:C:T Identity +NM_001291902.2:c.247AAC[1] NP_001278831.1:p.Asn84del NC_000011.10:68406711:AACAAC:AAC p.(Asn84del) NC_000011.10:68406711:A:AAC ERR:Parse ERR:Parse Identity +NM_014141.6:c.1073C>T NP_054860.1:p.Pro358Leu NC_000007.14:147128825:C:T p.(Pro358Leu) NC_000007.14:147128825:C:T p.(Pro358Leu) NC_000007.14:147128825:C:T Identity +NM_001407860.1:c.4370A>T NP_001394789.1:p.Gln1457Leu NC_000017.11:43076598:T:A p.(Gln1457Leu) NC_000017.11:43076598:T:A p.(Gln1457Leu) NC_000017.11:43076598:T:A Identity +NM_001101417.4:c.32C>T NP_001094887.1:p.Pro11Leu NC_000007.14:16421290:G:A p.(Pro11Leu) NC_000007.14:16421290:G:A p.(Pro11Leu) NC_000007.14:16421290:G:A Identity +NM_001127892.2:c.129del NP_001121364.1:p.Ser44fs NC_000016.10:51141801:GG:G p.(Ser44AlafsTer42) NC_000016.10:51141801:GG:G p.(Ser44AlafsTer42) NC_000016.10:51141801:G: Analogous +NM_003924.4:c.725C>T NP_003915.2:p.Ala242Val NC_000004.12:41746026:G:A p.(Ala242Val) NC_000004.12:41746026:G:A p.(Ala242Val) NC_000004.12:41746026:G:A Identity +NM_004369.4:c.6901G>T NP_004360.2:p.Val2301Phe NC_000002.12:237348641:C:A p.(Val2301Phe) NC_000002.12:237348641:C:A p.(Val2301Phe) NC_000002.12:237348641:C:A Identity +NM_001160227.2:c.3749T>C NP_001153699.1:p.Ile1250Thr NC_000015.10:44598773:A:G p.(Ile1250Thr) NC_000015.10:44598773:A:G p.(Ile1250Thr) NC_000015.10:44598773:A:G Identity +NM_001384165.1:c.119del NP_001371094.1:p.Leu40fs NC_000017.11:44075012:TTTT:TTT p.(Leu40TrpfsTer11) NC_000017.11:44075012:TTTT:TTT p.(Leu40TrpfsTer11) NC_000017.11:44075015:T: Analogous +NM_001160227.2:c.6119G>T NP_001153699.1:p.Ser2040Ile NC_000015.10:44570543:C:A p.(Ser2040Ile) NC_000015.10:44570543:C:A p.(Ser2040Ile) NC_000015.10:44570543:C:A Identity +NM_001999.4:c.3260G>A NP_001990.2:p.Gly1087Glu NC_000005.10:128344467:C:T p.(Gly1087Glu) NC_000005.10:128344467:C:T p.(Gly1087Glu) NC_000005.10:128344467:C:T Identity +NM_001164665.2:c.697C>T NP_001158137.1:p.Arg233Trp NC_000007.14:138918928:G:A p.(Arg233Trp) NC_000007.14:138918928:G:A p.(Arg233Trp) NC_000007.14:138918928:G:A Identity +NM_000593.6:c.302C>T NP_000584.3:p.Ala101Val NC_000006.12:32853334:G:A p.(Ala101Val) NC_000006.12:32853334:G:A p.(Ala101Val) NC_000006.12:32853334:G:A Identity +NM_014252.4:c.32T>C NP_055067.1:p.Ile11Thr NC_000013.11:40793257:T:C p.(Ile11Thr) NC_000013.11:40793257:T:C p.(Ile11Thr) NC_000013.11:40793257:T:C Identity +NM_014141.6:c.3671T>A NP_054860.1:p.Met1224Lys NC_000007.14:148383843:T:A p.(Met1224Lys) NC_000007.14:148383843:T:A p.(Met1224Lys) NC_000007.14:148383843:T:A Identity +NM_002180.3:c.922A>C NP_002171.2:p.Lys308Gln NC_000011.10:68917744:A:C p.(Lys308Gln) NC_000011.10:68917744:A:C p.(Lys308Gln) NC_000011.10:68917744:A:C Identity +NM_001134477.3:c.167C>G NP_001127949.1:p.Ala56Gly NC_000016.10:14617627:G:C p.(Ala56Gly) NC_000016.10:14617627:G:C p.(Ala56Gly) NC_000016.10:14617627:G:C Identity +NM_000138.5:c.8032dup NP_000129.3:p.Tyr2678fs NC_000015.10:48415554:AA:AAA p.(Tyr2678LeufsTer27) NC_000015.10:48415554:AA:AAA p.(Tyr2678LeufsTer27) ERR:SPDI Analogous +NM_001271620.2:c.644C>T NP_001258549.1:p.Thr215Met NC_000016.10:49638327:G:A p.(Thr215Met) NC_000016.10:49638327:G:A p.(Thr215Met) NC_000016.10:49638327:G:A Identity +NM_000553.6:c.896dup NP_000544.2:p.Ile300fs NC_000008.11:31080922:T:TT p.(Ile300AsnfsTer5) NC_000008.11:31080922:T:TT p.(Ile300AsnfsTer5) ERR:SPDI Analogous +NM_000377.3:c.256C>T NP_000368.1:p.Arg86Cys NC_000023.11:48684405:C:T p.(Arg86Cys) NC_000023.11:48684405:C:T p.(Arg86Cys) NC_000023.11:48684405:C:T Identity +NM_001363813.1:c.2188C>T NP_001350742.1:p.Leu730Phe NC_000017.11:65533933:G:A p.(Leu730Phe) NC_000017.11:65533933:G:A p.(Leu730Phe) NC_000017.11:65533933:G:A Identity +NM_024685.4:c.92C>T NP_078961.3:p.Pro31Leu NC_000012.12:76348266:G:A p.(Pro31Leu) NC_000012.12:76348266:G:A p.(Pro31Leu) NC_000012.12:76348266:G:A Identity +NM_017617.5:c.6397C>A NP_060087.3:p.Pro2133Thr NC_000009.12:136497341:G:T p.(Pro2133Thr) NC_000009.12:136497341:G:T p.(Pro2133Thr) NC_000009.12:136497341:G:T Identity +NM_032043.3:c.677G>A NP_114432.2:p.Ser226Asn NC_000017.11:61808707:C:T p.(Ser226Asn) NC_000017.11:61808707:C:T p.(Ser226Asn) NC_000017.11:61808707:C:T Identity +NM_000260.4:c.3424A>G NP_000251.3:p.Met1142Val NC_000011.10:77184635:A:G p.(Met1142Val) NC_000011.10:77184635:A:G p.(Met1142Val) NC_000011.10:77184635:A:G Identity +NM_001005505.3:c.1672G>T NP_001005505.1:p.Val558Leu NC_000003.12:50376142:C:A p.(Val558Leu) NC_000003.12:50376142:C:A p.(Val558Leu) NC_000003.12:50376142:C:A Identity +NM_006231.4:c.305C>T NP_006222.2:p.Pro102Leu NC_000012.12:132680202:G:A p.(Pro102Leu) NC_000012.12:132680202:G:A p.(Pro102Leu) NC_000012.12:132680202:G:A Identity +NM_001385640.1:c.1255C>G NP_001372569.1:p.Leu419Val NC_000001.11:941199:C:G p.(Leu419Val) NC_000001.11:941199:C:G p.(Leu419Val) NC_000001.11:941199:C:G Identity +NM_001271933.2:c.3493C>T NP_001258862.1:p.Arg1165Cys NC_000011.10:117397295:C:T p.(Arg1165Cys) NC_000011.10:117397295:C:T p.(Arg1165Cys) NC_000011.10:117397295:C:T Identity +NM_001378454.1:c.6204_6208del NP_001365383.1:p.Ser2068fs NC_000002.12:73452726:AAAGTAAAG:AAAG p.(Ser2068ArgfsTer10) NC_000002.12:73452726:AAAGTAAAG:AAAG p.(Ser2068ArgfsTer10) NC_000002.12:73452730:TAAAG: Analogous +NM_001251987.2:c.839G>A NP_001238916.1:p.Gly280Glu NC_000006.12:123497206:C:T p.(Gly280Glu) NC_000006.12:123497206:C:T p.(Gly280Glu) NC_000006.12:123497206:C:T Identity +NM_001164507.2:c.18374A>G NP_001157979.2:p.Tyr6125Cys NC_000002.12:151565140:T:C p.(Tyr6125Cys) NC_000002.12:151565140:T:C p.(Tyr6125Cys) NC_000002.12:151565140:T:C Identity +NM_001330723.2:c.1571G>A NP_001317652.1:p.Arg524Lys NC_000001.11:151693475:G:A p.(Arg524Lys) NC_000001.11:151693475:G:A p.(Arg524Lys) NC_000001.11:151693475:G:A Identity +NM_004204.5:c.82A>T NP_004195.2:p.Ser28Cys NC_000016.10:574155:A:T p.(Ser28Cys) NC_000016.10:574155:A:T p.(Ser28Cys) NC_000016.10:574155:A:T Identity +NM_001377214.1:c.605A>G NP_001364143.1:p.Asn202Ser NC_000011.10:14880185:T:C p.(Asn202Ser) NC_000011.10:14880185:T:C p.(Asn202Ser) NC_000011.10:14880185:T:C Identity +NM_000353.3:c.401A>G NP_000344.1:p.Glu134Gly NC_000016.10:71573545:T:C p.(Glu134Gly) NC_000016.10:71573545:T:C p.(Glu134Gly) NC_000016.10:71573545:T:C Identity +NM_001136029.4:c.3398T>C NP_001129501.1:p.Phe1133Ser NC_000022.11:31870683:T:C p.(Phe1133Ser) NC_000022.11:31870683:T:C p.(Phe1133Ser) NC_000022.11:31870683:T:C Identity +NM_002439.5:c.2521G>A NP_002430.3:p.Ala841Thr NC_000005.10:80787649:G:A p.(Ala841Thr) NC_000005.10:80787649:G:A p.(Ala841Thr) NC_000005.10:80787649:G:A Identity +NM_001142800.2:c.4817C>A NP_001136272.1:p.Thr1606Asn NC_000006.12:64591049:G:T p.(Thr1606Asn) NC_000006.12:64591049:G:T p.(Thr1606Asn) NC_000006.12:64591049:G:T Identity +NM_003803.4:c.92G>A NP_003794.3:p.Arg31Gln NC_000018.10:3215131:C:T p.(Arg31Gln) NC_000018.10:3215131:C:T p.(Arg31Gln) NC_000018.10:3215131:C:T Identity +NM_001378454.1:c.2038C>T NP_001365383.1:p.Arg680Ter NC_000002.12:73448564:C:T p.(Arg680Ter) NC_000002.12:73448564:C:T p.(Arg680Ter) NC_000002.12:73448564:C:T Identity +NM_000323.2:c.2297C>T NP_000314.1:p.Pro766Leu NC_000010.11:43118384:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001193304.3:c.674A>G NP_001180233.1:p.Glu225Gly NC_000002.12:96253850:T:C p.(Glu225Gly) NC_000002.12:96253850:T:C p.(Glu225Gly) NC_000002.12:96253850:T:C Identity +NM_002439.5:c.2753T>C NP_002430.3:p.Ile918Thr NC_000005.10:80813680:T:C p.(Ile918Thr) NC_000005.10:80813680:T:C p.(Ile918Thr) NC_000005.10:80813680:T:C Identity +NM_006269.2:c.3509T>C NP_006260.1:p.Ile1170Thr NC_000008.11:54627390:T:C p.(Ile1170Thr) NC_000008.11:54627390:T:C p.(Ile1170Thr) NC_000008.11:54627390:T:C Identity +NM_006785.4:c.1321del NP_006776.1:p.Cys441fs NC_000018.10:58733494:T: p.(Cys441ValfsTer6) NC_000018.10:58733494:T: p.(Cys441ValfsTer6) NC_000018.10:58733494:T: Analogous +NM_001165963.4:c.4181_4182del NP_001159435.1:p.Thr1394fs NC_000002.12:166002573:AG: p.(Thr1394ArgfsTer10) NC_000002.12:166002573:AG: p.(Thr1394ArgfsTer10) NC_000002.12:166002573:AG: Analogous +NM_003816.3:c.1784G>C NP_003807.1:p.Ser595Thr NC_000008.11:39077313:G:C p.(Ser595Thr) NC_000008.11:39077313:G:C p.(Ser595Thr) NC_000008.11:39077313:G:C Identity +NM_001167961.2:c.188C>T NP_001161433.1:p.Thr63Ile NC_000007.14:66633317:C:T p.(Thr63Ile) NC_000007.14:66633317:C:T p.(Thr63Ile) NC_000007.14:66633317:C:T Identity +NM_000069.3:c.3143A>G NP_000060.2:p.Tyr1048Cys NC_000001.11:201061378:T:C p.(Tyr1048Cys) NC_000001.11:201061378:T:C p.(Tyr1048Cys) NC_000001.11:201061378:T:C Identity +NM_001195263.2:c.926G>C NP_001182192.1:p.Arg309Pro NC_000010.11:101020619:C:G p.(Arg309Pro) NC_000010.11:101020619:C:G p.(Arg309Pro) NC_000010.11:101020619:C:G Identity +NM_001278590.2:c.650G>A NP_001265519.1:p.Arg217His NC_000004.12:39470059:G:A p.(Arg217His) NC_000004.12:39470059:G:A p.(Arg217His) NC_000004.12:39470059:G:A Identity +NM_002180.3:c.1699T>G NP_002171.2:p.Phe567Val NC_000011.10:68935364:T:G p.(Phe567Val) NC_000011.10:68935364:T:G p.(Phe567Val) NC_000011.10:68935364:T:G Identity +NM_002185.5:c.178G>A NP_002176.2:p.Glu60Lys NC_000005.10:35860946:G:A p.(Glu60Lys) NC_000005.10:35860946:G:A p.(Glu60Lys) NC_000005.10:35860946:G:A Identity +NM_001164688.2:c.140G>A NP_001158160.1:p.Arg47His NC_000001.11:211481275:C:T p.(Arg47His) NC_000001.11:211481275:C:T p.(Arg47His) NC_000001.11:211481275:C:T Identity +NM_001282625.2:c.115A>C NP_001269554.1:p.Asn39His NC_000001.11:156115032:A:C p.(Asn39His) NC_000001.11:156115032:A:C p.(Asn39His) NC_000001.11:156115032:A:C Identity +NM_024675.4:c.452A>T NP_078951.2:p.Gln151Leu NC_000016.10:23636093:T:A p.(Gln151Leu) NC_000016.10:23636093:T:A p.(Gln151Leu) NC_000016.10:23636093:T:A Identity +NM_152424.4:c.1441del NP_689637.3:p.Asp481fs NC_000023.11:64191845:CC:C p.(Asp481MetfsTer60) NC_000023.11:64191845:CC:C p.(Asp481MetfsTer60) NC_000023.11:64191845:C: Analogous +NM_000286.3:c.203T>A NP_000277.1:p.Leu68His NC_000017.11:35577514:A:T p.(Leu68His) NC_000017.11:35577514:A:T p.(Leu68His) NC_000017.11:35577514:A:T Identity +NM_001122955.4:c.1313C>T NP_001116427.1:p.Pro438Leu NC_000011.10:62690442:G:A p.(Pro438Leu) NC_000011.10:62690442:G:A p.(Pro438Leu) NC_000011.10:62690442:G:A Identity +NM_000553.6:c.2990A>G NP_000544.2:p.Gln997Arg NC_000008.11:31141451:A:G p.(Gln997Arg) NC_000008.11:31141451:A:G p.(Gln997Arg) NC_000008.11:31141451:A:G Identity +NM_000222.3:c.1681GAG[1] NP_000213.1:p.Glu562del NC_000004.12:54727448:GAGGAG:GAG p.(Glu562del) NC_000004.12:54727448:G:GAG ERR:Parse ERR:Parse Identity +NM_001012331.2:c.164C>A NP_001012331.1:p.Ala55Asp NC_000001.11:156861097:C:A p.(Ala55Asp) NC_000001.11:156861097:C:A p.(Ala55Asp) NC_000001.11:156861097:C:A Identity +NM_001166111.2:c.293del NP_001159583.1:p.Phe98fs NC_000019.10:7536222:TT:T p.(Phe98SerfsTer38) NC_000019.10:7536222:TT:T p.(Phe98SerfsTer38) NC_000019.10:7536223:T: Analogous +NM_006231.4:c.202C>T NP_006222.2:p.Pro68Ser NC_000012.12:132681139:G:A p.(Pro68Ser) NC_000012.12:132681139:G:A p.(Pro68Ser) NC_000012.12:132681139:G:A Identity +NM_002661.5:c.2228A>G NP_002652.2:p.Tyr743Cys NC_000016.10:81919656:A:G p.(Tyr743Cys) NC_000016.10:81919656:A:G p.(Tyr743Cys) NC_000016.10:81919656:A:G Identity +NM_004369.4:c.3325G>A NP_004360.2:p.Gly1109Arg NC_000002.12:237374765:C:T p.(Gly1109Arg) NC_000002.12:237374765:C:T p.(Gly1109Arg) NC_000002.12:237374765:C:T Identity +NM_004369.4:c.6156G>T NP_004360.2:p.Lys2052Asn NC_000002.12:237361738:C:A p.(Lys2052Asn) NC_000002.12:237361738:C:A p.(Lys2052Asn) NC_000002.12:237361738:C:A Identity +NM_001130846.4:c.215G>A NP_001124318.2:p.Gly72Asp NC_000023.11:130136117:C:T p.(Gly72Asp) NC_000023.11:130136117:C:T p.(Gly72Asp) NC_000023.11:130136117:C:T Identity +NM_001621.5:c.2540del NP_001612.1:p.Phe847fs NC_000007.14:17343055:TT:T p.(Phe847SerfsTer56) NC_000007.14:17343055:TT:T p.(Phe847SerfsTer56) NC_000007.14:17343056:T: Analogous +NM_000051.4:c.3292C>T NP_000042.3:p.Gln1098Ter NC_000011.10:108279497:C:T p.(Gln1098Ter) NC_000011.10:108279497:C:T p.(Gln1098Ter) NC_000011.10:108279497:C:T Identity +NM_022114.4:c.1047dup NP_071397.3:p.Ser350fs NC_000001.11:3405505:CCCC:CCCCC p.(Ser350GlnfsTer48) NC_000001.11:3405505:CCCC:CCCCC p.(Ser350GlnfsTer48) ERR:SPDI Analogous +NM_001297644.1:c.140C>A NP_001284573.1:p.Ala47Asp NC_000005.10:64781920:C:A p.(Ala47Asp) NC_000005.10:64781920:C:A p.(Ala47Asp) NC_000005.10:64781920:C:A Identity +NM_001029883.3:c.1601G>T NP_001025054.1:p.Ser534Ile NC_000002.12:29072660:C:A p.(Ser534Ile) NC_000002.12:29072660:C:A p.(Ser534Ile) NC_000002.12:29072660:C:A Identity +NM_003809.3:c.596C>T NP_003800.1:p.Ala199Val NC_000017.11:7557195:C:T p.(Ala199Val) NC_000017.11:7557195:C:T p.(Ala199Val) NC_000017.11:7557195:C:T Identity +NM_001288951.2:c.1429A>T NP_001275880.1:p.Ser477Cys NC_000002.12:47021897:A:T p.(Ser477Cys) NC_000002.12:47021897:A:T p.(Ser477Cys) NC_000002.12:47021897:A:T Identity +NM_015164.4:c.1405G>A NP_055979.2:p.Val469Ile NC_000001.11:15727476:G:A p.(Val469Ile) NC_000001.11:15727476:G:A p.(Val469Ile) NC_000001.11:15727476:G:A Identity +NM_000050.4:c.574G>A NP_000041.2:p.Ala192Thr NC_000009.12:130471491:G:A p.(Ala192Thr) NC_000009.12:130471491:G:A p.(Ala192Thr) NC_000009.12:130471491:G:A Identity +NM_001353765.2:c.95G>A NP_001340694.1:p.Gly32Asp NC_000002.12:29223401:C:T p.(Gly32Asp) NC_000002.12:29223401:C:T p.(Gly32Asp) NC_000002.12:29223401:C:T Identity +NM_004304.5:c.365C>G NP_004295.2:p.Thr122Arg NC_000002.12:29920294:G:C p.(Thr122Arg) NC_000002.12:29920294:G:C p.(Thr122Arg) NC_000002.12:29920294:G:C Identity +NM_001199427.2:c.188C>T NP_001186356.1:p.Pro63Leu NC_000014.9:102870388:C:T p.(Pro63Leu) NC_000014.9:102870388:C:T p.(Pro63Leu) NC_000014.9:102870388:C:T Identity +NM_139058.3:c.625G>A NP_620689.1:p.Gly209Ser NC_000023.11:25013369:C:T p.(Gly209Ser) NC_000023.11:25013369:C:T p.(Gly209Ser) NC_000023.11:25013369:C:T Identity +NM_007272.3:c.238C>T NP_009203.2:p.Arg80Trp NC_000001.11:15442453:C:T p.(Arg80Trp) NC_000001.11:15442453:C:T p.(Arg80Trp) NC_000001.11:15442453:C:T Identity +NM_000109.4:c.952G>T NP_000100.3:p.Glu318Ter NC_000023.11:32645136:C:A p.(Glu318Ter) NC_000023.11:32645136:C:A p.(Glu318Ter) NC_000023.11:32645136:C:A Identity +NM_001148.6:c.10348A>G NP_001139.3:p.Thr3450Ala NC_000004.12:113358965:A:G p.(Thr3450Ala) NC_000004.12:113358965:A:G p.(Thr3450Ala) NC_000004.12:113358965:A:G Identity +NM_000551.4:c.596A>T NP_000542.1:p.Glu199Val NC_000003.12:10149918:A:T p.(Glu199Val) NC_000003.12:10149918:A:T p.(Glu199Val) NC_000003.12:10149918:A:T Identity +NM_020184.4:c.542C>T NP_064569.3:p.Pro181Leu NC_000002.12:96761540:C:T p.(Pro181Leu) NC_000002.12:96761540:C:T p.(Pro181Leu) NC_000002.12:96761540:C:T Identity +NM_001105206.3:c.205G>T NP_001098676.2:p.Ala69Ser NC_000006.12:112216459:C:A p.(Ala69Ser) NC_000006.12:112216459:C:A p.(Ala69Ser) NC_000006.12:112216459:C:A Identity +NM_001369.3:c.13540T>C NP_001360.1:p.Cys4514Arg NC_000005.10:13700822:A:G p.(Cys4514Arg) NC_000005.10:13700822:A:G p.(Cys4514Arg) NC_000005.10:13700822:A:G Identity +NM_199355.4:c.515G>A NP_955387.1:p.Arg172Gln NC_000016.10:77367703:C:T p.(Arg172Gln) NC_000016.10:77367703:C:T p.(Arg172Gln) NC_000016.10:77367703:C:T Identity +NM_032119.4:c.18852G>T NP_115495.3:p.Glu6284Asp NC_000005.10:91163830:G:T p.(Glu6284Asp) NC_000005.10:91163830:G:T p.(Glu6284Asp) NC_000005.10:91163830:G:T Identity +NM_005732.4:c.419T>C NP_005723.2:p.Met140Thr NC_000005.10:132579369:T:C p.(Met140Thr) NC_000005.10:132579369:T:C p.(Met140Thr) NC_000005.10:132579369:T:C Identity +NM_001177984.3:c.5473C>T NP_001171455.1:p.Arg1825Trp NC_000012.12:51807081:C:T p.(Arg1825Trp) NC_000012.12:51807081:C:T p.(Arg1825Trp) NC_000012.12:51807081:C:T Identity +NM_000527.5:c.1993A>T NP_000518.1:p.Asn665Tyr NC_000019.10:11120374:A:T p.(Asn665Tyr) NC_000019.10:11120374:A:T p.(Asn665Tyr) NC_000019.10:11120374:A:T Identity +NM_000548.5:c.688T>A NP_000539.2:p.Cys230Ser NC_000016.10:2056682:T:A p.(Cys230Ser) NC_000016.10:2056682:T:A p.(Cys230Ser) NC_000016.10:2056682:T:A Identity +NM_198586.3:c.424G>C NP_940988.2:p.Val142Leu NC_000006.12:18122182:C:G p.(Val142Leu) NC_000006.12:18122182:C:G p.(Val142Leu) NC_000006.12:18122182:C:G Identity +NM_001293306.2:c.4435A>G NP_001280235.2:p.Ile1479Val NC_000003.12:38702057:T:C p.(Ile1479Val) NC_000003.12:38702057:T:C p.(Ile1479Val) NC_000003.12:38702057:T:C Identity +NM_020184.4:c.2170C>T NP_064569.3:p.Arg724Cys NC_000002.12:96809358:C:T p.(Arg724Cys) NC_000002.12:96809358:C:T p.(Arg724Cys) NC_000002.12:96809358:C:T Identity +NM_005419.4:c.1922T>C NP_005410.1:p.Leu641Pro NC_000012.12:56346563:A:G p.(Leu641Pro) NC_000012.12:56346563:A:G p.(Leu641Pro) NC_000012.12:56346563:A:G Identity +NM_000445.5:c.2641G>T NP_000436.2:p.Val881Leu NC_000008.11:143930195:C:A p.(Val881Leu) NC_000008.11:143930195:C:A p.(Val881Leu) NC_000008.11:143930195:C:A Identity +NM_001127198.5:c.481C>T NP_001120670.1:p.Arg161Trp NC_000017.11:78125212:G:A p.(Arg161Trp) NC_000017.11:78125212:G:A p.(Arg161Trp) NC_000017.11:78125212:G:A Identity +NM_001319034.2:c.4002T>G NP_001305963.1:p.Phe1334Leu NC_000006.12:7580191:T:G p.(Phe1334Leu) NC_000006.12:7580191:T:G p.(Phe1334Leu) NC_000006.12:7580191:T:G Identity +NM_001257281.2:c.926A>G NP_001244210.1:p.Lys309Arg NC_000002.12:232136694:A:G p.(Lys309Arg) NC_000002.12:232136694:A:G p.(Lys309Arg) NC_000002.12:232136694:A:G Identity +NM_001353765.2:c.1343C>T NP_001340694.1:p.Thr448Ile NC_000002.12:29193539:G:A p.(Thr448Ile) NC_000002.12:29193539:G:A p.(Thr448Ile) NC_000002.12:29193539:G:A Identity +NM_001081640.2:c.2264C>T NP_001075109.1:p.Ala755Val NC_000008.11:47927348:G:A p.(Ala755Val) NC_000008.11:47927348:G:A p.(Ala755Val) NC_000008.11:47927348:G:A Identity +NM_005732.4:c.212A>T NP_005723.2:p.Lys71Met NC_000005.10:132559365:A:T p.(Lys71Met) NC_000005.10:132559365:A:T p.(Lys71Met) NC_000005.10:132559365:A:T Identity +NM_001621.5:c.145C>T NP_001612.1:p.Arg49Cys NC_000007.14:17310014:C:T p.(Arg49Cys) NC_000007.14:17310014:C:T p.(Arg49Cys) NC_000007.14:17310014:C:T Identity +NM_015662.3:c.1354G>A NP_056477.1:p.Gly452Arg NC_000002.12:27476697:C:T p.(Gly452Arg) NC_000002.12:27476697:C:T p.(Gly452Arg) NC_000002.12:27476697:C:T Identity +NM_001006658.3:c.1084G>A NP_001006659.1:p.Val362Ile NC_000001.11:207469960:G:A p.(Val362Ile) NC_000001.11:207469960:G:A p.(Val362Ile) NC_000001.11:207469960:G:A Identity +NM_000264.5:c.3614T>A NP_000255.2:p.Val1205Asp NC_000009.12:95449258:A:T p.(Val1205Asp) NC_000009.12:95449258:A:T p.(Val1205Asp) NC_000009.12:95449258:A:T Identity +NM_014141.6:c.2231A>G NP_054860.1:p.Asn744Ser NC_000007.14:147903696:A:G p.(Asn744Ser) NC_000007.14:147903696:A:G p.(Asn744Ser) NC_000007.14:147903696:A:G Identity +NM_001099403.2:c.1173G>T NP_001092873.1:p.Lys391Asn NC_000004.12:80202634:G:T p.(Lys391Asn) NC_000004.12:80202634:G:T p.(Lys391Asn) NC_000004.12:80202634:G:T Identity +NM_001365536.1:c.5376T>A NP_001352465.1:p.Asp1792Glu NC_000002.12:166199262:A:T p.(Asp1792Glu) NC_000002.12:166199262:A:T p.(Asp1792Glu) NC_000002.12:166199262:A:T Identity +NM_000813.3:c.758C>G NP_000804.1:p.Ser253Cys NC_000005.10:161334825:G:C p.(Ser253Cys) NC_000005.10:161334825:G:C p.(Ser253Cys) NC_000005.10:161334825:G:C Identity +NM_002661.5:c.265C>T NP_002652.2:p.Arg89Cys NC_000016.10:81854514:C:T p.(Arg89Cys) NC_000016.10:81854514:C:T p.(Arg89Cys) NC_000016.10:81854514:C:T Identity +NM_001293557.2:c.2407C>T NP_001280486.1:p.Arg803Ter NC_000016.10:50716611:C:T p.(Arg803Ter) NC_000016.10:50716611:C:T p.(Arg803Ter) NC_000016.10:50716611:C:T Identity +NM_006231.4:c.782A>G NP_006222.2:p.Asp261Gly NC_000012.12:132677381:T:C p.(Asp261Gly) NC_000012.12:132677381:T:C p.(Asp261Gly) NC_000012.12:132677381:T:C Identity +NM_000368.5:c.1446A>G NP_000359.1:p.Ile482Met NC_000009.12:132906131:T:C p.(Ile482Met) NC_000009.12:132906131:T:C p.(Ile482Met) NC_000009.12:132906131:T:C Identity +NM_001844.5:c.1841C>T NP_001835.3:p.Pro614Leu NC_000012.12:47984591:G:A p.(Pro614Leu) NC_000012.12:47984591:G:A p.(Pro614Leu) NC_000012.12:47984591:G:A Identity +NM_001136029.4:c.3143A>C NP_001129501.1:p.Gln1048Pro NC_000022.11:31857458:A:C p.(Gln1048Pro) NC_000022.11:31857458:A:C p.(Gln1048Pro) NC_000022.11:31857458:A:C Identity +NM_007348.4:c.1493GAA[1] NP_031374.2:p.Arg499del NC_000001.11:161853280:AAGAAGAA:AAGAA p.(Arg499del) NC_000001.11:161853282:G:GAA ERR:Parse ERR:Parse Identity +NM_001190720.3:c.748A>G NP_001177649.2:p.Ile250Val NC_000008.11:42316718:A:G p.(Ile250Val) NC_000008.11:42316718:A:G p.(Ile250Val) NC_000008.11:42316718:A:G Identity +NM_007118.4:c.5297C>G NP_009049.2:p.Pro1766Arg NC_000005.10:14461111:C:G p.(Pro1766Arg) NC_000005.10:14461111:C:G p.(Pro1766Arg) NC_000005.10:14461111:C:G Identity +NM_001330723.2:c.857C>A NP_001317652.1:p.Thr286Lys NC_000001.11:151662220:C:A p.(Thr286Lys) NC_000001.11:151662220:C:A p.(Thr286Lys) NC_000001.11:151662220:C:A Identity +NM_015662.3:c.3877A>G NP_056477.1:p.Ser1293Gly NC_000002.12:27453457:T:C p.(Ser1293Gly) NC_000002.12:27453457:T:C p.(Ser1293Gly) NC_000002.12:27453457:T:C Identity +NM_001346897.2:c.2158G>A NP_001333826.1:p.Val720Met NC_000007.14:55181301:G:A p.(Val720Met) NC_000007.14:55181301:G:A p.(Val720Met) NC_000007.14:55181301:G:A Identity +NM_001256850.1:c.101492A>C NP_001243779.1:p.Lys33831Thr NC_000002.12:178530075:T:G p.(Lys33831Thr) NC_000002.12:178530075:T:G p.(Lys33831Thr) NC_000002.12:178530075:T:G Identity +NM_001042537.2:c.80C>A NP_001036002.1:p.Pro27His NC_000023.11:135985581:C:A p.(Pro27His) NC_000023.11:135985581:C:A p.(Pro27His) NC_000023.11:135985581:C:A Identity +NM_033071.5:c.4640C>A NP_149062.2:p.Ala1547Glu NC_000006.12:152430551:G:T p.(Ala1547Glu) NC_000006.12:152430551:G:T p.(Ala1547Glu) NC_000006.12:152430551:G:T Identity +NM_005431.2:c.565C>A NP_005422.1:p.Leu189Met NC_000007.14:152648919:G:T p.(Leu189Met) NC_000007.14:152648919:G:T p.(Leu189Met) NC_000007.14:152648919:G:T Identity +NM_000742.4:c.688G>A NP_000733.2:p.Glu230Lys NC_000008.11:27463754:C:T p.(Glu230Lys) NC_000008.11:27463754:C:T p.(Glu230Lys) NC_000008.11:27463754:C:T Identity +NM_000214.3:c.442C>T NP_000205.1:p.Pro148Ser NC_000020.11:10658719:G:A p.(Pro148Ser) NC_000020.11:10658719:G:A p.(Pro148Ser) NC_000020.11:10658719:G:A Identity +NM_001131015.2:c.1463_1465del NP_001124487.1:p.Ala488del NC_000009.12:128177750:CGGCG:CG p.(Ala488del) NC_000009.12:128177750:CGGCG:CG p.(Ala488del) NC_000009.12:128177750:CGG: Identity +NM_025137.4:c.6092G>A NP_079413.3:p.Arg2031Gln NC_000015.10:44573659:C:T p.(Arg2031Gln) NC_000015.10:44573659:C:T p.(Arg2031Gln) NC_000015.10:44573659:C:T Identity +NM_002439.5:c.1867A>G NP_002430.3:p.Arg623Gly NC_000005.10:80761648:A:G p.(Arg623Gly) NC_000005.10:80761648:A:G p.(Arg623Gly) NC_000005.10:80761648:A:G Identity +NM_000748.3:c.1415T>C NP_000739.1:p.Phe472Ser NC_000001.11:154575837:T:C p.(Phe472Ser) NC_000001.11:154575837:T:C p.(Phe472Ser) NC_000001.11:154575837:T:C Identity +NM_000388.4:c.3118C>G NP_000379.3:p.Gln1040Glu NC_000003.12:122285071:C:G p.(Gln1040Glu) NC_000003.12:122285071:C:G p.(Gln1040Glu) NC_000003.12:122285071:C:G Identity +NM_001276378.2:c.670G>A NP_001263307.1:p.Ala224Thr NC_000003.12:45828494:C:T p.(Ala224Thr) NC_000003.12:45828494:C:T p.(Ala224Thr) NC_000003.12:45828494:C:T Identity +NM_001350234.2:c.965C>T NP_001337163.1:p.Pro322Leu NC_000001.11:9717570:C:T p.(Pro322Leu) NC_000001.11:9717570:C:T p.(Pro322Leu) NC_000001.11:9717570:C:T Identity +NM_001271769.2:c.2335T>C NP_001258698.1:p.Ser779Pro NC_000005.10:78089487:A:G p.(Ser779Pro) NC_000005.10:78089487:A:G p.(Ser779Pro) NC_000005.10:78089487:A:G Identity +NM_001195573.1:c.5407del NP_001182502.1:p.Cys1803fs NC_000014.9:95091066:AA:A p.(Cys1803AlafsTer2) NC_000014.9:95091066:AA:A p.(Cys1803AlafsTer2) NC_000014.9:95091066:A: Analogous +NM_001365536.1:c.4522A>G NP_001352465.1:p.Ile1508Val NC_000002.12:166204206:T:C p.(Ile1508Val) NC_000002.12:166204206:T:C p.(Ile1508Val) NC_000002.12:166204206:T:C Identity +NM_000026.4:c.919C>T NP_000017.1:p.Leu307Phe NC_000022.11:40361543:C:T p.(Leu307Phe) NC_000022.11:40361543:C:T p.(Leu307Phe) NC_000022.11:40361543:C:T Identity +NM_001300895.3:c.300G>A NP_001287824.1:p.Met100Ile NC_000011.10:67457645:G:A p.(Met100Ile) NC_000011.10:67457645:G:A p.(Met100Ile) NC_000011.10:67457645:G:A Identity +NM_001365999.1:c.4664C>G NP_001352928.1:p.Pro1555Arg NC_000001.11:43430678:C:G p.(Pro1555Arg) NC_000001.11:43430678:C:G p.(Pro1555Arg) NC_000001.11:43430678:C:G Identity +NM_001349370.3:c.3343G>A NP_001336299.1:p.Glu1115Lys NC_000003.12:47121160:C:T p.(Glu1115Lys) NC_000003.12:47121160:C:T p.(Glu1115Lys) NC_000003.12:47121160:C:T Identity +NM_032043.3:c.985C>T NP_114432.2:p.Gln329Ter NC_000017.11:61801407:G:A p.(Gln329Ter) NC_000017.11:61801407:G:A p.(Gln329Ter) NC_000017.11:61801407:G:A Identity +NM_000742.4:c.472A>G NP_000733.2:p.Thr158Ala NC_000008.11:27463970:T:C p.(Thr158Ala) NC_000008.11:27463970:T:C p.(Thr158Ala) NC_000008.11:27463970:T:C Identity +NM_001164507.2:c.19929C>G NP_001157979.2:p.Tyr6643Ter NC_000002.12:151551752:G:C p.(Tyr6643Ter) NC_000002.12:151551752:G:C p.(Tyr6643Ter) NC_000002.12:151551752:G:C Identity +NM_017890.5:c.9267G>C NP_060360.3:p.Gln3089His NC_000008.11:99823839:G:C p.(Gln3089His) NC_000008.11:99823839:G:C p.(Gln3089His) NC_000008.11:99823839:G:C Identity +NM_001048210.3:c.1634C>T NP_001041675.1:p.Pro545Leu NC_000001.11:108934691:G:A p.(Pro545Leu) NC_000001.11:108934691:G:A p.(Pro545Leu) NC_000001.11:108934691:G:A Identity +NM_025014.2:c.689G>A NP_079290.1:p.Gly230Asp NC_000017.11:8313008:G:A p.(Gly230Asp) NC_000017.11:8313008:G:A p.(Gly230Asp) NC_000017.11:8313008:G:A Identity +NM_001308133.2:c.1946A>G NP_001295062.1:p.Lys649Arg NC_000014.9:45170609:A:G p.(Lys649Arg) NC_000014.9:45170609:A:G p.(Lys649Arg) NC_000014.9:45170609:A:G Identity +NM_001142333.2:c.146C>T NP_001135805.1:p.Ala49Val NC_000016.10:7518264:C:T p.(Ala49Val) NC_000016.10:7518264:C:T p.(Ala49Val) NC_000016.10:7518264:C:T Identity +NM_030793.5:c.2275G>A NP_110420.3:p.Asp759Asn NC_000005.10:148427568:G:A p.(Asp759Asn) NC_000005.10:148427568:G:A p.(Asp759Asn) NC_000005.10:148427568:G:A Identity +NM_001164507.2:c.3473_3488del NP_001157979.2:p.Asn1158fs NC_000002.12:151677954:TGCTTATAGTTGACATTGCT:TGCT p.(Asn1158IlefsTer21) NC_000002.12:151677954:TGCTTATAGTTGACATTGCT:TGCT p.(Asn1158IlefsTer21) NC_000002.12:151677954:TGCTTATAGTTGACAT: Analogous +NM_024649.5:c.175C>G NP_078925.3:p.Leu59Val NC_000011.10:66514420:C:G p.(Leu59Val) NC_000011.10:66514420:C:G p.(Leu59Val) NC_000011.10:66514420:C:G Identity +NM_000215.4:c.3094G>A NP_000206.2:p.Ala1032Thr NC_000019.10:17830504:C:T p.(Ala1032Thr) NC_000019.10:17830504:C:T p.(Ala1032Thr) NC_000019.10:17830504:C:T Identity +NM_014244.5:c.789C>G NP_055059.2:p.Asp263Glu NC_000005.10:179207614:G:C p.(Asp263Glu) NC_000005.10:179207614:G:C p.(Asp263Glu) NC_000005.10:179207614:G:C Identity +NM_001270523.2:c.427G>A NP_001257452.1:p.Ala143Thr NC_000014.9:56802177:C:T p.(Ala143Thr) NC_000014.9:56802177:C:T p.(Ala143Thr) NC_000014.9:56802177:C:T Identity +NM_001012301.4:c.64T>C NP_001012301.1:p.Trp22Arg NC_000005.10:150302309:A:G p.(Trp22Arg) NC_000005.10:150302309:A:G p.(Trp22Arg) NC_000005.10:150302309:A:G Identity +NM_000038.6:c.8068G>T NP_000029.2:p.Ala2690Ser NC_000005.10:112843661:G:T p.(Ala2690Ser) NC_000005.10:112843661:G:T p.(Ala2690Ser) NC_000005.10:112843661:G:T Identity +NM_001385640.1:c.2117A>C NP_001372569.1:p.Lys706Thr NC_000001.11:943312:A:C p.(Lys706Thr) NC_000001.11:943312:A:C p.(Lys706Thr) NC_000001.11:943312:A:C Identity +NM_003924.4:c.172C>T NP_003915.2:p.Pro58Ser NC_000004.12:41748438:G:A p.(Pro58Ser) NC_000004.12:41748438:G:A p.(Pro58Ser) NC_000004.12:41748438:G:A Identity +NM_001164665.2:c.1885A>G NP_001158137.1:p.Thr629Ala NC_000007.14:138917740:T:C p.(Thr629Ala) NC_000007.14:138917740:T:C p.(Thr629Ala) NC_000007.14:138917740:T:C Identity +NM_003126.4:c.4201C>T NP_003117.2:p.Gln1401Ter NC_000001.11:158644389:G:A p.(Gln1401Ter) NC_000001.11:158644389:G:A p.(Gln1401Ter) NC_000001.11:158644389:G:A Identity +NM_000136.3:c.485G>C NP_000127.2:p.Arg162Thr NC_000009.12:95171114:C:G p.(Arg162Thr) NC_000009.12:95171114:C:G p.(Arg162Thr) NC_000009.12:95171114:C:G Identity +NM_000081.4:c.6065C>T NP_000072.2:p.Pro2022Leu NC_000001.11:235766134:G:A p.(Pro2022Leu) NC_000001.11:235766134:G:A p.(Pro2022Leu) NC_000001.11:235766134:G:A Identity +NM_000098.3:c.1862T>C NP_000089.1:p.Ile621Thr NC_000001.11:53213479:T:C p.(Ile621Thr) NC_000001.11:53213479:T:C p.(Ile621Thr) NC_000001.11:53213479:T:C Identity +NM_173354.5:c.826C>T NP_775490.2:p.Arg276Trp NC_000021.9:43420379:G:A p.(Arg276Trp) NC_000021.9:43420379:G:A p.(Arg276Trp) NC_000021.9:43420379:G:A Identity +NM_001035.3:c.3698A>G NP_001026.2:p.Gln1233Arg NC_000001.11:237589891:A:G p.(Gln1233Arg) NC_000001.11:237589891:A:G p.(Gln1233Arg) NC_000001.11:237589891:A:G Identity +NM_000350.3:c.4823A>G NP_000341.2:p.His1608Arg NC_000001.11:94021664:T:C p.(His1608Arg) NC_000001.11:94021664:T:C p.(His1608Arg) NC_000001.11:94021664:T:C Identity +NM_001318219.1:c.2128G>A NP_001305148.1:p.Glu710Lys NC_000020.11:35502392:G:A p.(Glu710Lys) NC_000020.11:35502392:G:A p.(Glu710Lys) NC_000020.11:35502392:G:A Identity +NM_001190458.2:c.1445G>C NP_001177387.1:p.Arg482Pro NC_000009.12:340290:G:C p.(Arg482Pro) NC_000009.12:340290:G:C p.(Arg482Pro) NC_000009.12:340290:G:C Identity +NM_001352253.3:c.269A>G NP_001339182.1:p.His90Arg NC_000013.11:110705526:T:C p.(His90Arg) NC_000013.11:110705526:T:C p.(His90Arg) NC_000013.11:110705526:T:C Identity +NM_001377289.1:c.2012C>G NP_001364218.1:p.Ala671Gly NC_000006.12:70216951:G:C p.(Ala671Gly) NC_000006.12:70216951:G:C p.(Ala671Gly) NC_000006.12:70216951:G:C Identity +NM_000180.4:c.2395_2398dup NP_000171.1:p.His800fs NC_000017.11:8014010:GACC:GACCGACC p.(His800ArgfsTer20) NC_000017.11:8014010:GACC:GACCGACC p.(His800ArgfsTer20) ERR:SPDI Analogous +NM_000246.4:c.3106G>T NP_000237.2:p.Ala1036Ser NC_000016.10:10918482:G:T p.(Ala1036Ser) NC_000016.10:10918482:G:T p.(Ala1036Ser) NC_000016.10:10918482:G:T Identity +NM_005530.3:c.467T>C NP_005521.1:p.Ile156Thr NC_000015.10:78161757:T:C p.(Ile156Thr) NC_000015.10:78161757:T:C p.(Ile156Thr) NC_000015.10:78161757:T:C Identity +NM_001145661.2:c.1024dup NP_001139133.1:p.Ala342fs NC_000003.12:128481937:C:CC p.(Ala342GlyfsTer42) NC_000003.12:128481937:C:CC p.(Ala342GlyfsTer42) ERR:SPDI Analogous +NM_001079802.2:c.305A>G NP_001073270.1:p.Lys102Arg NC_000009.12:105601283:A:G p.(Lys102Arg) NC_000009.12:105601283:A:G p.(Lys102Arg) NC_000009.12:105601283:A:G Identity +NM_001376.5:c.2294T>C NP_001367.2:p.Val765Ala NC_000014.9:101986518:T:C p.(Val765Ala) NC_000014.9:101986518:T:C p.(Val765Ala) NC_000014.9:101986518:T:C Identity +NM_001354768.3:c.589C>T NP_001341697.1:p.Gln197Ter NC_000014.9:24081360:G:A p.(Gln197Ter) NC_000014.9:24081360:G:A p.(Gln197Ter) NC_000014.9:24081360:G:A Identity +NM_006343.3:c.1238A>T NP_006334.2:p.Gln413Leu NC_000002.12:111982934:A:T p.(Gln413Leu) NC_000002.12:111982934:A:T p.(Gln413Leu) NC_000002.12:111982934:A:T Identity +NM_020461.4:c.4253A>C NP_065194.3:p.Tyr1418Ser NC_000022.11:50219705:T:G p.(Tyr1418Ser) NC_000022.11:50219705:T:G p.(Tyr1418Ser) NC_000022.11:50219705:T:G Identity +NM_001032221.6:c.1656C>A NP_001027392.1:p.Cys552Ter NC_000009.12:127682513:C:A p.(Cys552Ter) NC_000009.12:127682513:C:A p.(Cys552Ter) NC_000009.12:127682513:C:A Identity +NM_001127487.2:c.1609T>G NP_001120959.1:p.Tyr537Asp NC_000007.14:128840606:T:G p.(Tyr537Asp) NC_000007.14:128840606:T:G p.(Tyr537Asp) NC_000007.14:128840606:T:G Identity +NM_000748.3:c.306G>A NP_000739.1:p.Met102Ile NC_000001.11:154570307:G:A p.(Met102Ile) NC_000001.11:154570307:G:A p.(Met102Ile) NC_000001.11:154570307:G:A Identity +NM_000535.7:c.2174C>A NP_000526.2:p.Ala725Glu NC_000007.14:5982823:G:T p.(Ala725Glu) NC_000007.14:5982823:G:T p.(Ala725Glu) NC_000007.14:5982823:G:T Identity +NM_000089.4:c.2465G>A NP_000080.2:p.Arg822His NC_000007.14:94423017:G:A p.(Arg822His) NC_000007.14:94423017:G:A p.(Arg822His) NC_000007.14:94423017:G:A Identity +NM_001136037.4:c.255C>G NP_001129509.2:p.Tyr85Ter NC_000002.12:127654878:G:C p.(Tyr85Ter) NC_000002.12:127654878:G:C p.(Tyr85Ter) NC_000002.12:127654878:G:C Identity +NM_001171653.2:c.1019C>T NP_001165124.1:p.Ser340Leu NC_000002.12:144400095:G:A p.(Ser340Leu) NC_000002.12:144400095:G:A p.(Ser340Leu) NC_000002.12:144400095:G:A Identity +NM_001317184.2:c.1835del NP_001304113.1:p.Gln612fs NC_000016.10:68823479:A: p.(Gln612ArgfsTer6) NC_000016.10:68823479:A: p.(Gln612ArgfsTer6) NC_000016.10:68823479:A: Analogous +NM_001288574.2:c.1617del NP_001275503.1:p.Phe539fs NC_000008.11:71211218:AAA:AA p.(Phe539LeufsTer10) NC_000008.11:71211218:AAA:AA p.(Phe539LeufsTer10) NC_000008.11:71211218:A: Analogous +NM_001256850.1:c.62147_62148insTGTGACTGTATCCAGATAC NP_001243779.1:p.Pro20717fs NC_000002.12:178580216:G:GTATCTGGATACAGTCACAG p.(Pro20717ValfsTer13) NC_000002.12:178580215:T:GTATCTGGATACAGTCACA p.(Pro20717ValfsTer13) NC_000002.12:178580216:TG:GTATCTGGATACAGTCACA Analogous +NM_000445.5:c.2338C>T NP_000436.2:p.Arg780Cys NC_000008.11:143931580:G:A p.(Arg780Cys) NC_000008.11:143931580:G:A p.(Arg780Cys) NC_000008.11:143931580:G:A Identity +NM_001286130.2:c.1607C>T NP_001273059.1:p.Thr536Ile NC_000016.10:57923290:G:A p.(Thr536Ile) NC_000016.10:57923290:G:A p.(Thr536Ile) NC_000016.10:57923290:G:A Identity +NM_000059.4:c.3550G>A NP_000050.3:p.Gly1184Ser NC_000013.11:32337904:G:A p.(Gly1184Ser) NC_000013.11:32337904:G:A p.(Gly1184Ser) NC_000013.11:32337904:G:A Identity +NM_001048171.2:c.1084G>T NP_001041636.2:p.Val362Leu NC_000001.11:45331678:C:A p.(Val362Leu) NC_000001.11:45331678:C:A p.(Val362Leu) NC_000001.11:45331678:C:A Identity +NM_000059.4:c.5281G>A NP_000050.3:p.Gly1761Arg NC_000013.11:32339635:G:A p.(Gly1761Arg) NC_000013.11:32339635:G:A p.(Gly1761Arg) NC_000013.11:32339635:G:A Identity +NM_003705.5:c.182C>T NP_003696.2:p.Ala61Val NC_000002.12:171868707:G:A p.(Ala61Val) NC_000002.12:171868707:G:A p.(Ala61Val) NC_000002.12:171868707:G:A Identity +NM_004268.5:c.589C>T NP_004259.3:p.Arg197Ter NC_000011.10:93790744:C:T p.(Arg197Ter) NC_000011.10:93790744:C:T p.(Arg197Ter) NC_000011.10:93790744:C:T Identity +NM_000098.3:c.65G>A NP_000089.1:p.Ser22Asn NC_000001.11:53197007:G:A p.(Ser22Asn) NC_000001.11:53197007:G:A p.(Ser22Asn) NC_000001.11:53197007:G:A Identity +NM_182919.4:c.665G>A NP_891549.1:p.Arg222His NC_000019.10:4817712:C:T p.(Arg222His) NC_000019.10:4817712:C:T p.(Arg222His) NC_000019.10:4817712:C:T Identity +NM_015512.5:c.7774C>G NP_056327.4:p.Arg2592Gly NC_000003.12:52381804:C:G p.(Arg2592Gly) NC_000003.12:52381804:C:G p.(Arg2592Gly) NC_000003.12:52381804:C:G Identity +NM_000093.5:c.1100C>T NP_000084.3:p.Pro367Leu NC_000009.12:134730410:C:T p.(Pro367Leu) NC_000009.12:134730410:C:T p.(Pro367Leu) NC_000009.12:134730410:C:T Identity +NM_001322252.2:c.157C>T NP_001309181.1:p.Pro53Ser NC_000010.11:63465505:G:A p.(Pro53Ser) NC_000010.11:63465505:G:A p.(Pro53Ser) NC_000010.11:63465505:G:A Identity +NM_001282948.2:c.4955C>T NP_001269877.1:p.Ala1652Val NC_000010.11:63197553:G:A p.(Ala1652Val) NC_000010.11:63197553:G:A p.(Ala1652Val) NC_000010.11:63197553:G:A Identity +NM_001172417.1:c.139C>T NP_001165888.1:p.Pro47Ser NC_000002.12:232770983:G:A p.(Pro47Ser) NC_000002.12:232770983:G:A p.(Pro47Ser) NC_000002.12:232770983:G:A Identity +NM_017890.5:c.3354G>T NP_060360.3:p.Leu1118Phe NC_000008.11:99442543:G:T p.(Leu1118Phe) NC_000008.11:99442543:G:T p.(Leu1118Phe) NC_000008.11:99442543:G:T Identity +NM_000319.5:c.550T>C NP_000310.2:p.Trp184Arg NC_000012.12:7199111:T:C p.(Trp184Arg) NC_000012.12:7199111:T:C p.(Trp184Arg) NC_000012.12:7199111:T:C Identity +NM_017841.4:c.222C>G NP_060311.1:p.Ser74Arg NC_000011.10:61437809:C:G p.(Ser74Arg) NC_000011.10:61437809:C:G p.(Ser74Arg) NC_000011.10:61437809:C:G Identity +NM_013444.4:c.1714G>A NP_038472.2:p.Ala572Thr NC_000023.11:56565586:G:A p.(Ala572Thr) NC_000023.11:56565586:G:A p.(Ala572Thr) NC_000023.11:56565586:G:A Identity +NM_000553.6:c.3114G>A NP_000544.2:p.Met1038Ile NC_000008.11:31141575:G:A p.(Met1038Ile) NC_000008.11:31141575:G:A p.(Met1038Ile) NC_000008.11:31141575:G:A Identity +NM_001267623.2:c.299T>G NP_001254552.1:p.Val100Gly NC_000020.11:3221850:T:G p.(Val100Gly) NC_000020.11:3221850:T:G p.(Val100Gly) NC_000020.11:3221850:T:G Identity +NM_018129.4:c.736A>G NP_060599.1:p.Met246Val NC_000017.11:47946731:A:G p.(Met246Val) NC_000017.11:47946731:A:G p.(Met246Val) NC_000017.11:47946731:A:G Identity +NM_033071.5:c.8905G>C NP_149062.2:p.Val2969Leu NC_000006.12:152381130:C:G p.(Val2969Leu) NC_000006.12:152381130:C:G p.(Val2969Leu) NC_000006.12:152381130:C:G Identity +NM_000364.4:c.610A>G NP_000355.2:p.Lys204Glu NC_000001.11:201362012:T:C p.(Lys204Glu) NC_000001.11:201362012:T:C p.(Lys204Glu) NC_000001.11:201362012:T:C Identity +NM_014714.4:c.2119C>T NP_055529.2:p.Leu707Phe NC_000016.10:1562064:G:A p.(Leu707Phe) NC_000016.10:1562064:G:A p.(Leu707Phe) NC_000016.10:1562064:G:A Identity +NM_003924.4:c.564G>C NP_003915.2:p.Lys188Asn NC_000004.12:41746187:C:G p.(Lys188Asn) NC_000004.12:41746187:C:G p.(Lys188Asn) NC_000004.12:41746187:C:G Identity +NM_000388.4:c.1951T>C NP_000379.3:p.Ser651Pro NC_000003.12:122283904:T:C p.(Ser651Pro) NC_000003.12:122283904:T:C p.(Ser651Pro) NC_000003.12:122283904:T:C Identity +NM_000057.4:c.601A>G NP_000048.1:p.Thr201Ala NC_000015.10:90749868:A:G p.(Thr201Ala) NC_000015.10:90749868:A:G p.(Thr201Ala) NC_000015.10:90749868:A:G Identity +NM_007272.3:c.618T>A NP_009203.2:p.Asp206Glu NC_000001.11:15444729:T:A p.(Asp206Glu) NC_000001.11:15444729:T:A p.(Asp206Glu) NC_000001.11:15444729:T:A Identity +NM_001190799.2:c.1158G>C NP_001177728.1:p.Glu386Asp NC_000004.12:127886623:G:C p.(Glu386Asp) NC_000004.12:127886623:G:C p.(Glu386Asp) NC_000004.12:127886623:G:C Identity +NM_001164281.3:c.518G>A NP_001157753.1:p.Gly173Asp NC_000006.12:111591568:C:T p.(Gly173Asp) NC_000006.12:111591568:C:T p.(Gly173Asp) NC_000006.12:111591568:C:T Identity +NM_001005505.3:c.1249C>G NP_001005505.1:p.Pro417Ala NC_000003.12:50379102:G:C p.(Pro417Ala) NC_000003.12:50379102:G:C p.(Pro417Ala) NC_000003.12:50379102:G:C Identity +NM_006231.4:c.4250A>T NP_006222.2:p.Glu1417Val NC_000012.12:132643876:T:A p.(Glu1417Val) NC_000012.12:132643876:T:A p.(Glu1417Val) NC_000012.12:132643876:T:A Identity +NM_001349608.2:c.1824_1825del NP_001336537.1:p.Gly610fs NC_000001.11:7664460:TG: p.(Gly610HisfsTer76) NC_000001.11:7664460:TG: p.(Gly610HisfsTer76) NC_000001.11:7664460:TG: Analogous +NM_000329.3:c.400_402del NP_000320.1:p.Val134del NC_000001.11:68444623:AACAA:AA p.(Val134del) NC_000001.11:68444623:AACAA:AA p.(Val134del) NC_000001.11:68444623:AAC: Identity +NM_001136029.4:c.2799G>A NP_001129501.1:p.Trp933Ter NC_000022.11:31845041:G:A p.(Trp933Ter) NC_000022.11:31845041:G:A p.(Trp933Ter) NC_000022.11:31845041:G:A Identity +NM_000366.6:c.416A>G NP_000357.3:p.Glu139Gly NC_000015.10:63059603:A:G p.(Glu139Gly) NC_000015.10:63059603:A:G p.(Glu139Gly) NC_000015.10:63059603:A:G Identity +NM_004387.4:c.706C>T NP_004378.1:p.Pro236Ser NC_000005.10:173232837:G:A p.(Pro236Ser) NC_000005.10:173232837:G:A p.(Pro236Ser) NC_000005.10:173232837:G:A Identity +NM_000444.6:c.1021del NP_000435.3:p.Val341fs NC_000023.11:22099091:GG:G p.(Val341SerfsTer14) NC_000023.11:22099091:GG:G p.(Val341SerfsTer14) NC_000023.11:22099092:G: Analogous +NM_001145293.2:c.1394C>T NP_001138765.1:p.Pro465Leu NC_000003.12:25729295:G:A p.(Pro465Leu) NC_000003.12:25729295:G:A p.(Pro465Leu) NC_000003.12:25729295:G:A Identity +NM_001164716.1:c.1267del NP_001158188.1:p.Asp423fs NC_000011.10:64752491:CC:C p.(Asp423ThrfsTer28) NC_000011.10:64752491:CC:C p.(Asp423ThrfsTer28) NC_000011.10:64752491:C: Analogous +NM_001098802.3:c.635G>A NP_001092272.1:p.Trp212Ter NC_000009.12:78243492:G:A p.(Trp212Ter) NC_000009.12:78243492:G:A p.(Trp212Ter) NC_000009.12:78243492:G:A Identity +NM_000138.5:c.6359G>T NP_000129.3:p.Gly2120Val NC_000015.10:48437341:C:A p.(Gly2120Val) NC_000015.10:48437341:C:A p.(Gly2120Val) NC_000015.10:48437341:C:A Identity +NM_000533.5:c.157A>C NP_000524.3:p.Lys53Gln NC_000023.11:103785733:A:C p.(Lys53Gln) NC_000023.11:103785733:A:C p.(Lys53Gln) NC_000023.11:103785733:A:C Identity +NM_000091.5:c.3119_3120del NP_000082.2:p.Arg1040fs NC_000002.12:227290793:AGA:A p.(Arg1040ThrfsTer13) NC_000002.12:227290793:AGA:A p.(Arg1040ThrfsTer13) NC_000002.12:227290794:GA: Analogous +NM_000465.4:c.1278_1279del NP_000456.2:p.His426fs NC_000002.12:214780594:TAT:T p.(His426GlnfsTer12) NC_000002.12:214780594:TAT:T p.(His426GlnfsTer12) NC_000002.12:214780594:TA: Analogous +NM_000384.3:c.5618C>T NP_000375.3:p.Ala1873Val NC_000002.12:21011249:G:A p.(Ala1873Val) NC_000002.12:21011249:G:A p.(Ala1873Val) NC_000002.12:21011249:G:A Identity +NM_001271.4:c.3697C>T NP_001262.3:p.His1233Tyr NC_000015.10:92997057:C:T p.(His1233Tyr) NC_000015.10:92997057:C:T p.(His1233Tyr) NC_000015.10:92997057:C:T Identity +NM_006393.3:c.765_766delinsAA NP_006384.1:p.Gln256Lys NC_000010.11:20859744:GC:TT p.(Gln256Lys) NC_000010.11:20859744:GC:TT p.(Gln256Lys) NC_000010.11:20859744:GC:TT Identity +NM_000445.5:c.11492T>C NP_000436.2:p.Leu3831Pro NC_000008.11:143918409:A:G p.(Leu3831Pro) NC_000008.11:143918409:A:G p.(Leu3831Pro) NC_000008.11:143918409:A:G Identity +NM_004260.4:c.2357T>G NP_004251.4:p.Val786Gly NC_000008.11:144513323:A:C p.(Val786Gly) NC_000008.11:144513323:A:C p.(Val786Gly) NC_000008.11:144513323:A:C Identity +NM_000059.4:c.4579G>C NP_000050.3:p.Ala1527Pro NC_000013.11:32338933:G:C p.(Ala1527Pro) NC_000013.11:32338933:G:C p.(Ala1527Pro) NC_000013.11:32338933:G:C Identity +NM_032806.6:c.109G>A NP_116195.2:p.Ala37Thr NC_000003.12:43081322:C:T p.(Ala37Thr) NC_000003.12:43081322:C:T p.(Ala37Thr) NC_000003.12:43081322:C:T Identity +NM_000264.5:c.2285G>A NP_000255.2:p.Gly762Glu NC_000009.12:95467390:C:T p.(Gly762Glu) NC_000009.12:95467390:C:T p.(Gly762Glu) NC_000009.12:95467390:C:T Identity +NM_001271.4:c.5366C>T NP_001262.3:p.Ser1789Leu NC_000015.10:93024583:C:T p.(Ser1789Leu) NC_000015.10:93024583:C:T p.(Ser1789Leu) NC_000015.10:93024583:C:T Identity +NM_002334.4:c.5500G>C NP_002325.2:p.Gly1834Arg NC_000011.10:46859200:C:G p.(Gly1834Arg) NC_000011.10:46859200:C:G p.(Gly1834Arg) NC_000011.10:46859200:C:G Identity +NM_001127384.3:c.2494A>T NP_001120856.1:p.Ile832Phe NC_000010.11:65920523:T:A p.(Ile832Phe) NC_000010.11:65920523:T:A p.(Ile832Phe) NC_000010.11:65920523:T:A Identity +NM_001351527.2:c.2261C>G NP_001338456.1:p.Ala754Gly NC_000009.12:132329336:G:C p.(Ala754Gly) NC_000009.12:132329336:G:C p.(Ala754Gly) NC_000009.12:132329336:G:C Identity +NM_015512.5:c.5584G>C NP_056327.4:p.Gly1862Arg NC_000003.12:52366521:G:C p.(Gly1862Arg) NC_000003.12:52366521:G:C p.(Gly1862Arg) NC_000003.12:52366521:G:C Identity +NM_001382235.1:c.767G>T NP_001369164.1:p.Gly256Val NC_000020.11:63442454:C:A p.(Gly256Val) NC_000020.11:63442454:C:A p.(Gly256Val) NC_000020.11:63442454:C:A Identity +NM_001130955.2:c.1935_1944del NP_001124427.2:p.Cys645fs NC_000019.10:7463839:CTGCAGGCAGCTG:CTG p.(Cys645TrpfsTer62) NC_000019.10:7463839:CTGCAGGCAGCTG:CTG p.(Cys645TrpfsTer62) NC_000019.10:7463842:CAGGCAGCTG: Analogous +NM_015512.5:c.5105G>A NP_056327.4:p.Arg1702Gln NC_000003.12:52363004:G:A p.(Arg1702Gln) NC_000003.12:52363004:G:A p.(Arg1702Gln) NC_000003.12:52363004:G:A Identity +NM_001005373.4:c.368T>C NP_001005373.1:p.Ile123Thr NC_000009.12:127461218:T:C p.(Ile123Thr) NC_000009.12:127461218:T:C p.(Ile123Thr) NC_000009.12:127461218:T:C Identity +NM_000156.6:c.3G>A NP_000147.1:p.Met1Ile NC_000019.10:1401473:C:T p.(Met1Ile) NC_000019.10:1401473:C:T p.Met1? NC_000019.10:1401473:C:T Identity +NM_198525.3:c.3778dup NP_940927.2:p.Arg1260fs NC_000015.10:89628672:GGGGGG:GGGGGGG p.(Arg1260ProfsTer26) NC_000015.10:89628672:GGGGGG:GGGGGGG p.(Arg1260ProfsTer26) ERR:SPDI Analogous +NM_000455.5:c.460C>T NP_000446.1:p.His154Tyr NC_000019.10:1219408:C:T p.(His154Tyr) NC_000019.10:1219408:C:T p.(His154Tyr) NC_000019.10:1219408:C:T Identity +NM_000416.3:c.1155C>G NP_000407.1:p.Asn385Lys NC_000006.12:137198345:G:C p.(Asn385Lys) NC_000006.12:137198345:G:C p.(Asn385Lys) NC_000006.12:137198345:G:C Identity +NM_001277126.2:c.1546A>G NP_001264055.1:p.Ser516Gly NC_000019.10:53810112:T:C p.(Ser516Gly) NC_000019.10:53810112:T:C p.(Ser516Gly) NC_000019.10:53810112:T:C Identity +NM_000089.4:c.2296G>C NP_000080.2:p.Gly766Arg NC_000007.14:94421008:G:C p.(Gly766Arg) NC_000007.14:94421008:G:C p.(Gly766Arg) NC_000007.14:94421008:G:C Identity +NM_001371411.1:c.193G>C NP_001358340.1:p.Val65Leu NC_000002.12:227699521:C:G p.(Val65Leu) NC_000002.12:227699521:C:G p.(Val65Leu) NC_000002.12:227699521:C:G Identity +NM_000143.4:c.691A>G NP_000134.2:p.Ile231Val NC_000001.11:241508649:T:C p.(Ile231Val) NC_000001.11:241508649:T:C p.(Ile231Val) NC_000001.11:241508649:T:C Identity +NM_000038.6:c.3166A>C NP_000029.2:p.Ile1056Leu NC_000005.10:112838759:A:C p.(Ile1056Leu) NC_000005.10:112838759:A:C p.(Ile1056Leu) NC_000005.10:112838759:A:C Identity +NM_001312673.2:c.996del NP_001299602.1:p.Ser333fs NC_000003.12:196238795:GGGGG:GGGG p.(Ser333LeufsTer164) NC_000003.12:196238795:GGGGG:GGGG p.(Ser333LeufsTer164) NC_000003.12:196238795:G: Analogous +NM_001363864.1:c.5C>G NP_001350793.1:p.Ser2Cys NC_000002.12:60553265:G:C p.(Ser2Cys) NC_000002.12:60553265:G:C p.(Ser2Cys) NC_000002.12:60553265:G:C Identity +NM_001605.3:c.2218G>A NP_001596.2:p.Val740Met NC_000016.10:70255795:C:T p.(Val740Met) NC_000016.10:70255795:C:T p.(Val740Met) NC_000016.10:70255795:C:T Identity +NM_001037537.2:c.460G>A NP_001032626.1:p.Asp154Asn NC_000010.11:13283757:C:T p.(Asp154Asn) NC_000010.11:13283757:C:T p.(Asp154Asn) NC_000010.11:13283757:C:T Identity +NM_000153.4:c.1887del NP_000144.2:p.Trp629fs NC_000014.9:87939928:CC:C p.(Trp629CysfsTer6) NC_000014.9:87939928:CC:C p.(Trp629CysfsTer6) NC_000014.9:87939928:C: Analogous +NM_001172420.2:c.959G>A NP_001165891.1:p.Gly320Glu NC_000006.12:52464993:G:A p.(Gly320Glu) NC_000006.12:52464993:G:A p.(Gly320Glu) NC_000006.12:52464993:G:A Identity +NM_001142301.1:c.288T>G NP_001135773.1:p.Phe96Leu NC_000008.11:93765429:T:G p.(Phe96Leu) NC_000008.11:93765429:T:G p.(Phe96Leu) NC_000008.11:93765429:T:G Identity +NM_000051.4:c.1972G>C NP_000042.3:p.Asp658His NC_000011.10:108253886:G:C p.(Asp658His) NC_000011.10:108253886:G:C p.(Asp658His) NC_000011.10:108253886:G:C Identity +NM_000251.3:c.1702A>G NP_000242.1:p.Thr568Ala NC_000002.12:47471004:A:G p.(Thr568Ala) NC_000002.12:47471004:A:G p.(Thr568Ala) NC_000002.12:47471004:A:G Identity +NM_001195263.2:c.1673G>A NP_001182192.1:p.Arg558Gln NC_000010.11:101015711:C:T p.(Arg558Gln) NC_000010.11:101015711:C:T p.(Arg558Gln) NC_000010.11:101015711:C:T Identity +NM_001377291.1:c.309T>A NP_001364220.1:p.Tyr103Ter NC_000006.12:70294553:A:T p.(Tyr103Ter) NC_000006.12:70294553:A:T p.(Tyr103Ter) NC_000006.12:70294553:A:T Identity +NM_001190458.2:c.2453C>T NP_001177387.1:p.Thr818Ile NC_000009.12:382563:C:T p.(Thr818Ile) NC_000009.12:382563:C:T p.(Thr818Ile) NC_000009.12:382563:C:T Identity +NM_000551.4:c.276C>G NP_000542.1:p.Asp92Glu NC_000003.12:10142122:C:G p.(Asp92Glu) NC_000003.12:10142122:C:G p.(Asp92Glu) NC_000003.12:10142122:C:G Identity +NM_020461.4:c.1225C>T NP_065194.3:p.Arg409Cys NC_000022.11:50229468:G:A p.(Arg409Cys) NC_000022.11:50229468:G:A p.(Arg409Cys) NC_000022.11:50229468:G:A Identity +NM_001346897.2:c.1895G>A NP_001333826.1:p.Arg632His NC_000007.14:55173092:G:A p.(Arg632His) NC_000007.14:55173092:G:A p.(Arg632His) NC_000007.14:55173092:G:A Identity +NM_000535.7:c.2041C>T NP_000526.2:p.Gln681Ter NC_000007.14:5982956:G:A p.(Gln681Ter) NC_000007.14:5982956:G:A p.(Gln681Ter) NC_000007.14:5982956:G:A Identity +NM_000059.4:c.3729_3732del NP_000050.3:p.Asp1243fs NC_000013.11:32338083:TATT: p.(Asp1243GlufsTer15) NC_000013.11:32338083:TATT: p.(Asp1243GlufsTer15) NC_000013.11:32338083:TATT: Analogous +NM_000211.5:c.1835G>T NP_000202.3:p.Cys612Phe NC_000021.9:44889317:C:A p.(Cys612Phe) NC_000021.9:44889317:C:A p.(Cys612Phe) NC_000021.9:44889317:C:A Identity +NM_001352300.2:c.962C>G NP_001339229.1:p.Thr321Ser NC_000022.11:19883445:G:C p.(Thr321Ser) NC_000022.11:19883445:G:C p.? NC_000022.11:19883445:G:C Identity +NM_000520.6:c.1039G>T NP_000511.2:p.Asp347Tyr NC_000015.10:72348081:C:A p.(Asp347Tyr) NC_000015.10:72348081:C:A p.(Asp347Tyr) NC_000015.10:72348081:C:A Identity +NM_139318.5:c.2024T>C NP_647479.2:p.Ile675Thr NC_000014.9:62708450:A:G p.(Ile675Thr) NC_000014.9:62708450:A:G p.(Ile675Thr) NC_000014.9:62708450:A:G Identity +NM_006231.4:c.152A>G NP_006222.2:p.Glu51Gly NC_000012.12:132681189:T:C p.(Glu51Gly) NC_000012.12:132681189:T:C p.(Glu51Gly) NC_000012.12:132681189:T:C Identity +NM_000553.6:c.1820T>C NP_000544.2:p.Leu607Pro NC_000008.11:31090932:T:C p.(Leu607Pro) NC_000008.11:31090932:T:C p.(Leu607Pro) NC_000008.11:31090932:T:C Identity +NM_024529.5:c.1105A>G NP_078805.3:p.Thr369Ala NC_000001.11:193212427:A:G p.(Thr369Ala) NC_000001.11:193212427:A:G p.(Thr369Ala) NC_000001.11:193212427:A:G Identity +NM_000272.5:c.231C>G NP_000263.2:p.Asn77Lys NC_000002.12:110178520:G:C p.(Asn77Lys) NC_000002.12:110178520:G:C p.(Asn77Lys) NC_000002.12:110178520:G:C Identity +NM_005431.2:c.29C>T NP_005422.1:p.Ser10Phe NC_000007.14:152676050:G:A p.(Ser10Phe) NC_000007.14:152676050:G:A p.(Ser10Phe) NC_000007.14:152676050:G:A Identity +NM_001363823.2:c.1387G>A NP_001350752.1:p.Glu463Lys NC_000002.12:32136944:G:A p.(Glu463Lys) NC_000002.12:32136944:G:A p.(Glu463Lys) NC_000002.12:32136944:G:A Identity +NM_000535.7:c.422G>A NP_000526.2:p.Gly141Glu NC_000007.14:6002567:C:T p.(Gly141Glu) NC_000007.14:6002567:C:T p.(Gly141Glu) NC_000007.14:6002567:C:T Identity +NM_001252020.2:c.1201G>T NP_001238949.1:p.Ala401Ser NC_000015.10:31061453:C:A p.(Ala401Ser) NC_000015.10:31061453:C:A p.(Ala401Ser) NC_000015.10:31061453:C:A Identity +NM_001160227.2:c.6004A>G NP_001153699.1:p.Thr2002Ala NC_000015.10:44572682:T:C p.(Thr2002Ala) NC_000015.10:44572682:T:C p.(Thr2002Ala) NC_000015.10:44572682:T:C Identity +NM_000426.4:c.5968G>T NP_000417.3:p.Glu1990Ter NC_000006.12:129427853:G:T p.(Glu1990Ter) NC_000006.12:129427853:G:T p.(Glu1990Ter) NC_000006.12:129427853:G:T Identity +NM_001065.4:c.949C>T NP_001056.1:p.Pro317Ser NC_000012.12:6329885:G:A p.(Pro317Ser) NC_000012.12:6329885:G:A p.(Pro317Ser) NC_000012.12:6329885:G:A Identity +NM_033124.5:c.147GGA[1] NP_149115.2:p.Glu51del NC_000012.12:48904958:AGGAGGA:AGGA p.(Glu51del) NC_000012.12:48904959:G:GGA ERR:Parse ERR:Parse Identity +NM_000137.4:c.1025dup NP_000128.1:p.Asp344fs NC_000015.10:80180186:CC:CCC p.(Asp344GlyfsTer46) NC_000015.10:80180186:CC:CCC p.(Asp344GlyfsTer46) ERR:SPDI Analogous +NM_004260.4:c.1860C>A NP_004251.4:p.Cys620Ter NC_000008.11:144514206:G:T p.(Cys620Ter) NC_000008.11:144514206:G:T p.(Cys620Ter) NC_000008.11:144514206:G:T Identity +NM_000038.6:c.5932G>A NP_000029.2:p.Glu1978Lys NC_000005.10:112841525:G:A p.(Glu1978Lys) NC_000005.10:112841525:G:A p.(Glu1978Lys) NC_000005.10:112841525:G:A Identity +NM_001407957.1:c.92A>T NP_001394886.1:p.Tyr31Phe NC_000017.11:43104260:T:A p.(Tyr31Phe) NC_000017.11:43104260:T:A p.(Tyr31Phe) NC_000017.11:43104260:T:A Identity +NM_000023.4:c.1159C>T NP_000014.1:p.His387Tyr NC_000017.11:50175431:C:T p.(His387Tyr) NC_000017.11:50175431:C:T p.(His387Tyr) NC_000017.11:50175431:C:T Identity +NM_000548.5:c.3781G>A NP_000539.2:p.Ala1261Thr NC_000016.10:2081764:G:A p.(Ala1261Thr) NC_000016.10:2081764:G:A p.(Ala1261Thr) NC_000016.10:2081764:G:A Identity +NM_012463.4:c.1118A>G NP_036595.2:p.Asn373Ser NC_000012.12:123743863:A:G p.(Asn373Ser) NC_000012.12:123743863:A:G p.(Asn373Ser) NC_000012.12:123743863:A:G Identity +NM_000388.4:c.2581C>G NP_000379.3:p.Leu861Val NC_000003.12:122284534:C:G p.(Leu861Val) NC_000003.12:122284534:C:G p.(Leu861Val) NC_000003.12:122284534:C:G Identity +NM_002907.4:c.583G>T NP_002898.2:p.Ala195Ser NC_000012.12:21483492:C:A p.(Ala195Ser) NC_000012.12:21483492:C:A p.(Ala195Ser) NC_000012.12:21483492:C:A Identity +NM_001374425.1:c.28dup NP_001361354.1:p.Glu10fs NC_000001.11:2412474:CC:CCC p.(Glu10GlyfsTer41) NC_000001.11:2412474:CC:CCC p.(Glu10GlyfsTer41) ERR:SPDI Analogous +NM_000102.4:c.1085G>A NP_000093.1:p.Arg362His NC_000010.11:102832564:C:T p.(Arg362His) NC_000010.11:102832564:C:T p.(Arg362His) NC_000010.11:102832564:C:T Identity +NM_001006658.3:c.2018C>G NP_001006659.1:p.Thr673Arg NC_000001.11:207473583:C:G p.(Thr673Arg) NC_000001.11:207473583:C:G p.(Thr673Arg) NC_000001.11:207473583:C:G Identity +NM_000426.4:c.6554A>G NP_000417.3:p.Tyr2185Cys NC_000006.12:129453111:A:G p.(Tyr2185Cys) NC_000006.12:129453111:A:G p.(Tyr2185Cys) NC_000006.12:129453111:A:G Identity +NM_020766.3:c.1804C>T NP_065817.2:p.Arg602Ter NC_000023.11:100406793:G:A p.(Arg602Ter) NC_000023.11:100406793:G:A p.(Arg602Ter) NC_000023.11:100406793:G:A Identity +NM_001304481.2:c.451_453CTC[1] NP_001291410.1:p.Leu152Profs NC_000012.12:32582062:CTCCTC:CTC p.(Leu152del) NC_000012.12:32582062:CTC:CTC ERR:Parse ERR:Parse Different +NM_015202.5:c.1730G>A NP_056017.4:p.Trp577Ter NC_000016.10:27721681:G:A p.(Trp577Ter) NC_000016.10:27721681:G:A p.(Trp577Ter) NC_000016.10:27721681:G:A Identity +NM_001316772.1:c.602C>A NP_001303701.1:p.Ala201Glu NC_000007.14:30609612:C:A p.(Ala201Glu) NC_000007.14:30609612:C:A p.(Ala201Glu) NC_000007.14:30609612:C:A Identity +NM_003276.2:c.1861A>G NP_003267.1:p.Thr621Ala NC_000012.12:98534117:A:G p.(Thr621Ala) NC_000012.12:98534117:A:G p.(Thr621Ala) NC_000012.12:98534117:A:G Identity +NM_001376.5:c.11806G>T NP_001367.2:p.Val3936Leu NC_000014.9:102040350:G:T p.(Val3936Leu) NC_000014.9:102040350:G:T p.(Val3936Leu) NC_000014.9:102040350:G:T Identity +NM_012327.6:c.2264G>A NP_036459.1:p.Gly755Asp NC_000018.10:62090494:C:T p.(Gly755Asp) NC_000018.10:62090494:C:T p.(Gly755Asp) NC_000018.10:62090494:C:T Identity +NM_206933.4:c.5645G>A NP_996816.3:p.Gly1882Asp NC_000001.11:216073227:C:T p.(Gly1882Asp) NC_000001.11:216073227:C:T p.(Gly1882Asp) NC_000001.11:216073227:C:T Identity +NM_000179.3:c.962C>T NP_000170.1:p.Ser321Leu NC_000002.12:47798944:C:T p.(Ser321Leu) NC_000002.12:47798944:C:T p.(Ser321Leu) NC_000002.12:47798944:C:T Identity +NM_001130066.2:c.2882C>A NP_001123538.1:p.Thr961Asn NC_000006.12:33443475:C:A p.(Thr961Asn) NC_000006.12:33443475:C:A p.(Thr961Asn) NC_000006.12:33443475:C:A Identity +NM_030943.4:c.1036A>T NP_112205.2:p.Met346Leu NC_000014.9:102930193:A:T p.(Met346Leu) NC_000014.9:102930193:A:T p.(Met346Leu) NC_000014.9:102930193:A:T Identity +NM_000222.3:c.1946A>G NP_000213.1:p.Asn649Ser NC_000004.12:54728076:A:G p.(Asn649Ser) NC_000004.12:54728076:A:G p.(Asn649Ser) NC_000004.12:54728076:A:G Identity +NM_001346599.2:c.92A>G NP_001333528.1:p.Asn31Ser NC_000007.14:105542459:A:G p.(Asn31Ser) NC_000007.14:105542459:A:G p.(Asn31Ser) NC_000007.14:105542459:A:G Identity +NM_004260.4:c.941C>T NP_004251.4:p.Pro314Leu NC_000008.11:144516177:G:A p.(Pro314Leu) NC_000008.11:144516177:G:A p.(Pro314Leu) NC_000008.11:144516177:G:A Identity +NM_000334.4:c.147G>C NP_000325.4:p.Glu49Asp NC_000017.11:63972694:C:G p.(Glu49Asp) NC_000017.11:63972694:C:G p.(Glu49Asp) NC_000017.11:63972694:C:G Identity +NM_181882.3:c.407AGA[3] NP_870998.2:p.Lys139del NC_000019.10:40397933:TCTTCTTCTTCTTC:TCTTCTTCTTC p.(Lys139del) NC_000019.10:40397944:T:TCTTCTTCT ERR:Parse ERR:Parse Identity +NM_000180.4:c.431G>T NP_000171.1:p.Gly144Val NC_000017.11:8003477:G:T p.(Gly144Val) NC_000017.11:8003477:G:T p.(Gly144Val) NC_000017.11:8003477:G:T Identity +NM_001282205.2:c.208C>T NP_001269134.1:p.Pro70Ser NC_000009.12:34637363:G:A p.(Pro70Ser) NC_000009.12:34637363:G:A p.(Pro70Ser) NC_000009.12:34637363:G:A Identity +NM_003320.5:c.1402C>T NP_003311.2:p.Arg468Cys NC_000011.10:8100846:C:T p.(Arg468Cys) NC_000011.10:8100846:C:T p.(Arg468Cys) NC_000011.10:8100846:C:T Identity +NM_001164673.2:c.36G>T NP_001158145.1:p.Lys12Asn NC_000004.12:3463410:G:T p.(Lys12Asn) NC_000004.12:3463410:G:T p.(Lys12Asn) NC_000004.12:3463410:G:T Identity +NM_015243.3:c.547G>T NP_056058.2:p.Glu183Ter NC_000008.11:99103086:G:T p.(Glu183Ter) NC_000008.11:99103086:G:T p.(Glu183Ter) NC_000008.11:99103086:G:T Identity +NM_001166111.2:c.175C>T NP_001159583.1:p.Leu59Phe NC_000019.10:7535935:C:T p.(Leu59Phe) NC_000019.10:7535935:C:T p.(Leu59Phe) NC_000019.10:7535935:C:T Identity +NM_152383.5:c.2300C>T NP_689596.4:p.Pro767Leu NC_000002.12:232334640:C:T p.(Pro767Leu) NC_000002.12:232334640:C:T p.(Pro767Leu) NC_000002.12:232334640:C:T Identity +NM_006231.4:c.4115T>C NP_006222.2:p.Val1372Ala NC_000012.12:132648962:A:G p.(Val1372Ala) NC_000012.12:132648962:A:G p.(Val1372Ala) NC_000012.12:132648962:A:G Identity +NM_001363813.1:c.145A>C NP_001350742.1:p.Met49Leu NC_000017.11:65558475:T:G p.(Met49Leu) NC_000017.11:65558475:T:G p.(Met49Leu) NC_000017.11:65558475:T:G Identity +NM_005732.4:c.3269A>G NP_005723.2:p.Lys1090Arg NC_000005.10:132618173:A:G p.(Lys1090Arg) NC_000005.10:132618173:A:G p.(Lys1090Arg) NC_000005.10:132618173:A:G Identity +NM_004329.3:c.954dup NP_004320.2:p.Asp319Ter NC_000010.11:86919256:T:TT p.(Asp319Ter) NC_000010.11:86919256:T:TT p.(Asp319Ter) ERR:SPDI Identity +NM_002234.4:c.1573C>T NP_002225.2:p.Arg525Trp NC_000012.12:5045719:C:T p.(Arg525Trp) NC_000012.12:5045719:C:T p.(Arg525Trp) NC_000012.12:5045719:C:T Identity +NM_000244.4:c.1226T>A NP_000235.3:p.Leu409His NC_000011.10:64805172:A:T p.(Leu409His) NC_000011.10:64805172:A:T p.(Leu409His) NC_000011.10:64805172:A:T Identity +NM_001128425.2:c.191C>A NP_001121897.1:p.Ala64Asp NC_000001.11:45333569:G:T p.(Ala64Asp) NC_000001.11:45333569:G:T p.(Ala64Asp) NC_000001.11:45333569:G:T Identity +NM_025114.4:c.3013G>C NP_079390.3:p.Glu1005Gln NC_000012.12:88096977:C:G p.(Glu1005Gln) NC_000012.12:88096977:C:G p.(Glu1005Gln) NC_000012.12:88096977:C:G Identity +NM_001036.6:c.840G>A NP_001027.3:p.Trp280Ter NC_000015.10:33550183:G:A p.(Trp280Ter) NC_000015.10:33550183:G:A p.(Trp280Ter) NC_000015.10:33550183:G:A Identity +NM_000143.4:c.410C>T NP_000134.2:p.Pro137Leu NC_000001.11:241512111:G:A p.(Pro137Leu) NC_000001.11:241512111:G:A p.(Pro137Leu) NC_000001.11:241512111:G:A Identity +NM_001099922.3:c.2726C>A NP_001093392.1:p.Ser909Tyr NC_000023.11:111744697:C:A p.(Ser909Tyr) NC_000023.11:111744697:C:A p.(Ser909Tyr) NC_000023.11:111744697:C:A Identity +NM_000709.4:c.1313_1319del NP_000700.1:p.Tyr438fs NC_000019.10:41424578:CACTACCCACT:CACT p.(Tyr438TrpfsTer45) NC_000019.10:41424578:CACTACCCACT:CACT p.(Tyr438TrpfsTer45) NC_000019.10:41424582:ACCCACT: Analogous +NM_000323.2:c.1963T>G NP_000314.1:p.Phe655Val NC_000010.11:43114562:T:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000264.5:c.3805G>T NP_000255.2:p.Val1269Leu NC_000009.12:95447450:C:A p.(Val1269Leu) NC_000009.12:95447450:C:A p.(Val1269Leu) NC_000009.12:95447450:C:A Identity +NM_001376.5:c.10213A>G NP_001367.2:p.Met3405Val NC_000014.9:102033283:A:G p.(Met3405Val) NC_000014.9:102033283:A:G p.(Met3405Val) NC_000014.9:102033283:A:G Identity +NM_000335.5:c.2835C>A NP_000326.2:p.Asp945Glu NC_000003.12:38581323:G:T p.(Asp945Glu) NC_000003.12:38581323:G:T p.(Asp945Glu) NC_000003.12:38581323:G:T Identity +NM_001283009.2:c.3278A>G NP_001269938.1:p.Asp1093Gly NC_000020.11:63694908:A:G p.(Asp1093Gly) NC_000020.11:63694908:A:G p.(Asp1093Gly) NC_000020.11:63694908:A:G Identity +NM_001374321.1:c.1561A>G NP_001361250.1:p.Met521Val NC_000008.11:100220303:A:G p.(Met521Val) NC_000008.11:100220303:A:G p.(Met521Val) NC_000008.11:100220303:A:G Identity +NM_004656.4:c.212T>C NP_004647.1:p.Val71Ala NC_000003.12:52408516:A:G p.(Val71Ala) NC_000003.12:52408516:A:G p.(Val71Ala) NC_000003.12:52408516:A:G Identity +NM_001145527.2:c.2110C>T NP_001138999.1:p.Leu704Phe NC_000009.12:137777972:C:T p.(Leu704Phe) NC_000009.12:137777972:C:T p.(Leu704Phe) NC_000009.12:137777972:C:T Identity +NM_020964.3:c.3280G>A NP_066015.2:p.Gly1094Ser NC_000018.10:45916541:C:T p.(Gly1094Ser) NC_000018.10:45916541:C:T p.(Gly1094Ser) NC_000018.10:45916541:C:T Identity +NM_001256850.1:c.74994del NP_001243779.1:p.Ile24998fs NC_000002.12:178566214:AA:A p.(Ile24998MetfsTer5) NC_000002.12:178566214:AA:A p.(Ile24998MetfsTer5) NC_000002.12:178566214:A: Analogous +NM_017617.5:c.677C>T NP_060087.3:p.Pro226Leu NC_000009.12:136522914:G:A p.(Pro226Leu) NC_000009.12:136522914:G:A p.(Pro226Leu) NC_000009.12:136522914:G:A Identity +NM_024675.4:c.2320A>C NP_078951.2:p.Lys774Gln NC_000016.10:23629833:T:G p.(Lys774Gln) NC_000016.10:23629833:T:G p.(Lys774Gln) NC_000016.10:23629833:T:G Identity +NM_000118.4:c.750_766del17 NP_000109.1:p.Leu251Profs NC_000009.12:127825278:GGGACCCTGCAGGATGAGG:GG p.(Leu251ProfsTer77) NC_000009.12:127825278:GGGACCCTGCAGGATGAGG:GG p.(Leu251ProfsTer77) NC_000009.12:127825280:GACCCTGCAGGATGAGG: Analogous +NM_021942.6:c.211T>C NP_068761.4:p.Ser71Pro NC_000004.12:183666262:T:C p.(Ser71Pro) NC_000004.12:183666262:T:C p.(Ser71Pro) NC_000004.12:183666262:T:C Identity +NM_001206927.2:c.4976C>T NP_001193856.1:p.Thr1659Ile NC_000006.12:38845703:C:T p.(Thr1659Ile) NC_000006.12:38845703:C:T p.(Thr1659Ile) NC_000006.12:38845703:C:T Identity +NM_004370.6:c.4713T>A NP_004361.3:p.Asp1571Glu NC_000006.12:75143365:A:T p.(Asp1571Glu) NC_000006.12:75143365:A:T p.(Asp1571Glu) NC_000006.12:75143365:A:T Identity +NM_003803.4:c.5002G>A NP_003794.3:p.Glu1668Lys NC_000018.10:3067317:C:T p.(Glu1668Lys) NC_000018.10:3067317:C:T p.(Glu1668Lys) NC_000018.10:3067317:C:T Identity +NM_001321268.2:c.935G>T NP_001308197.1:p.Arg312Leu NC_000017.11:58206326:C:A p.(Arg312Leu) NC_000017.11:58206326:C:A p.(Arg312Leu) NC_000017.11:58206326:C:A Identity +NM_000051.4:c.1646G>A NP_000042.3:p.Ser549Asn NC_000011.10:108251874:G:A p.(Ser549Asn) NC_000011.10:108251874:G:A p.(Ser549Asn) NC_000011.10:108251874:G:A Identity +NM_133436.3:c.1165G>T NP_597680.2:p.Glu389Ter NC_000007.14:97854652:C:A p.(Glu389Ter) NC_000007.14:97854652:C:A p.(Glu389Ter) NC_000007.14:97854652:C:A Identity +NM_004370.6:c.2173G>A NP_004361.3:p.Ala725Thr NC_000006.12:75177926:C:T p.(Ala725Thr) NC_000006.12:75177926:C:T p.(Ala725Thr) NC_000006.12:75177926:C:T Identity +NM_001161587.2:c.114C>G NP_001155059.1:p.Asn38Lys NC_000019.10:48992998:G:C p.(Asn38Lys) NC_000019.10:48992998:G:C p.(Asn38Lys) NC_000019.10:48992998:G:C Identity +NM_001308133.2:c.1315A>T NP_001295062.1:p.Asn439Tyr NC_000014.9:45155455:A:T p.(Asn439Tyr) NC_000014.9:45155455:A:T p.(Asn439Tyr) NC_000014.9:45155455:A:T Identity +NM_001031737.3:c.341C>G NP_001026907.2:p.Pro114Arg NC_000016.10:725506:G:C p.(Pro114Arg) NC_000016.10:725506:G:C p.(Pro114Arg) NC_000016.10:725506:G:C Identity +NM_001317799.2:c.418del NP_001304728.1:p.Ala140fs NC_000004.12:122929170:GG:G p.(Ala140LeufsTer8) NC_000004.12:122929170:GG:G p.(Ala140LeufsTer8) NC_000004.12:122929171:G: Analogous +NM_001386339.1:c.61G>A NP_001373268.1:p.Gly21Arg NC_000011.10:10193981:C:T p.(Gly21Arg) NC_000011.10:10193981:C:T p.(Gly21Arg) NC_000011.10:10193981:C:T Identity +NM_001184985.2:c.3401A>G NP_001171914.1:p.Gln1134Arg NC_000012.12:871286:A:G p.(Gln1134Arg) NC_000012.12:871286:A:G p.(Gln1134Arg) NC_000012.12:871286:A:G Identity +NM_001290020.2:c.2191C>T NP_001276949.1:p.Arg731Trp NC_000010.11:27936786:G:A p.(Arg731Trp) NC_000010.11:27936786:G:A p.(Arg731Trp) NC_000010.11:27936786:G:A Identity +NM_000143.4:c.980C>T NP_000134.2:p.Ala327Val NC_000001.11:241504169:G:A p.(Ala327Val) NC_000001.11:241504169:G:A p.(Ala327Val) NC_000001.11:241504169:G:A Identity +NM_001276503.2:c.20T>G NP_001263432.1:p.Leu7Arg NC_000011.10:112086926:T:G p.(Leu7Arg) NC_000011.10:112086926:T:G p.(Leu7Arg) NC_000011.10:112086926:T:G Identity +NM_000089.4:c.3124G>A NP_000080.2:p.Gly1042Ser NC_000007.14:94427025:G:A p.(Gly1042Ser) NC_000007.14:94427025:G:A p.(Gly1042Ser) NC_000007.14:94427025:G:A Identity +NM_001293557.2:c.1379T>A NP_001280486.1:p.Val460Asp NC_000016.10:50711370:T:A p.(Val460Asp) NC_000016.10:50711370:T:A p.(Val460Asp) NC_000016.10:50711370:T:A Identity +NM_000368.5:c.2106dup NP_000359.1:p.Leu703fs NC_000009.12:132903752:T:TT p.(Leu703ThrfsTer3) NC_000009.12:132903752:T:TT p.(Leu703ThrfsTer3) ERR:SPDI Analogous +NM_007254.4:c.1480G>T NP_009185.2:p.Gly494Cys NC_000019.10:49861333:C:A p.(Gly494Cys) NC_000019.10:49861333:C:A p.(Gly494Cys) NC_000019.10:49861333:C:A Identity +NM_001048171.2:c.823G>A NP_001041636.2:p.Glu275Lys NC_000001.11:45332191:C:T p.(Glu275Lys) NC_000001.11:45332191:C:T p.(Glu275Lys) NC_000001.11:45332191:C:T Identity +NM_001293196.2:c.258G>C NP_001280125.1:p.Glu86Asp NC_000001.11:45332645:C:G p.(Glu86Asp) NC_000001.11:45332645:C:G p.(Glu86Asp) NC_000001.11:45332645:C:G Identity +NM_001377523.1:c.463G>T NP_001364452.1:p.Ala155Ser NC_000014.9:21321327:G:T p.(Ala155Ser) NC_000014.9:21321327:G:T p.(Ala155Ser) NC_000014.9:21321327:G:T Identity +NM_001369.3:c.12785G>A NP_001360.1:p.Arg4262Lys NC_000005.10:13716610:C:T p.(Arg4262Lys) NC_000005.10:13716610:C:T p.(Arg4262Lys) NC_000005.10:13716610:C:T Identity +NM_000244.4:c.274C>G NP_000235.3:p.Arg92Gly NC_000011.10:64809835:G:C p.(Arg92Gly) NC_000011.10:64809835:G:C p.(Arg92Gly) NC_000011.10:64809835:G:C Identity +NM_001081640.2:c.3542C>G NP_001075109.1:p.Thr1181Arg NC_000008.11:47897216:G:C p.(Thr1181Arg) NC_000008.11:47897216:G:C p.(Thr1181Arg) NC_000008.11:47897216:G:C Identity +NM_001347827.2:c.269C>G NP_001334756.1:p.Ala90Gly NC_000004.12:54261313:C:G p.(Ala90Gly) NC_000004.12:54261313:C:G p.(Ala90Gly) NC_000004.12:54261313:C:G Identity +NM_000038.6:c.7813C>G NP_000029.2:p.Gln2605Glu NC_000005.10:112843406:C:G p.(Gln2605Glu) NC_000005.10:112843406:C:G p.(Gln2605Glu) NC_000005.10:112843406:C:G Identity +NM_001272003.2:c.3579C>G NP_001258932.1:p.Ser1193Arg NC_000009.12:135792103:C:G p.(Ser1193Arg) NC_000009.12:135792103:C:G p.(Ser1193Arg) NC_000009.12:135792103:C:G Identity +NM_000335.5:c.3925C>T NP_000326.2:p.Pro1309Ser NC_000003.12:38562449:G:A p.(Pro1309Ser) NC_000003.12:38562449:G:A p.(Pro1309Ser) NC_000003.12:38562449:G:A Identity +NM_000033.4:c.1568T>C NP_000024.2:p.Leu523Pro NC_000023.11:153740170:T:C p.(Leu523Pro) NC_000023.11:153740170:T:C p.(Leu523Pro) NC_000023.11:153740170:T:C Identity +NM_001193640.2:c.3600C>G NP_001180569.1:p.Cys1200Trp NC_000001.11:197442222:C:G p.(Cys1200Trp) NC_000001.11:197442222:C:G p.(Cys1200Trp) NC_000001.11:197442222:C:G Identity +NM_000548.5:c.2639A>G NP_000539.2:p.Lys880Arg NC_000016.10:2075891:A:G p.(Lys880Arg) NC_000016.10:2075891:A:G p.(Lys880Arg) NC_000016.10:2075891:A:G Identity +NM_021942.6:c.1198G>A NP_068761.4:p.Gly400Arg NC_000004.12:183682815:G:A p.(Gly400Arg) NC_000004.12:183682815:G:A p.(Gly400Arg) NC_000004.12:183682815:G:A Identity +NM_001142763.2:c.1827A>C NP_001136235.1:p.Glu609Asp NC_000010.11:54132979:T:G p.(Glu609Asp) NC_000010.11:54132979:T:G p.(Glu609Asp) NC_000010.11:54132979:T:G Identity +NM_001281428.2:c.658C>T NP_001268357.1:p.Pro220Ser NC_000009.12:34491518:C:T p.(Pro220Ser) NC_000009.12:34491518:C:T p.(Pro220Ser) NC_000009.12:34491518:C:T Identity +NM_001134363.3:c.901del NP_001127835.2:p.Ala301fs NC_000010.11:110781508:GG:G p.(Ala301LeufsTer4) NC_000010.11:110781508:GG:G p.(Ala301LeufsTer4) NC_000010.11:110781509:G: Analogous +NM_001171933.1:c.1179C>G NP_001165404.1:p.Tyr393Ter NC_000010.11:71805831:C:G p.(Tyr393Ter) NC_000010.11:71805831:C:G p.(Tyr393Ter) NC_000010.11:71805831:C:G Identity +NM_005732.4:c.3482A>G NP_005723.2:p.Glu1161Gly NC_000005.10:132638086:A:G p.(Glu1161Gly) NC_000005.10:132638086:A:G p.(Glu1161Gly) NC_000005.10:132638086:A:G Identity +NM_001276289.2:c.554A>G NP_001263218.1:p.Tyr185Cys NC_000017.11:68525757:A:G p.(Tyr185Cys) NC_000017.11:68525757:A:G p.(Tyr185Cys) NC_000017.11:68525757:A:G Identity +NM_001031726.4:c.211_212dup NP_001026896.3:p.Pro72fs NC_000019.10:29702925:TT:TTTT p.(Pro72SerfsTer7) NC_000019.10:29702925:TT:TTTT p.(Pro72SerfsTer7) ERR:SPDI Analogous +NM_001256849.1:c.558dup NP_001243778.1:p.Val187fs NC_000019.10:50402091:CC:CCC p.(Val187ArgfsTer65) NC_000019.10:50402091:CC:CCC p.(Val187ArgfsTer65) ERR:SPDI Analogous +NM_001006658.3:c.1321C>A NP_001006659.1:p.Pro441Thr NC_000001.11:207470834:C:A p.(Pro441Thr) NC_000001.11:207470834:C:A p.(Pro441Thr) NC_000001.11:207470834:C:A Identity +NM_032119.4:c.8469T>G NP_115495.3:p.His2823Gln NC_000005.10:90705481:T:G p.(His2823Gln) NC_000005.10:90705481:T:G p.(His2823Gln) NC_000005.10:90705481:T:G Identity +NM_001326358.2:c.1594G>T NP_001313287.1:p.Gly532Ter NC_000016.10:77322388:C:A p.(Gly532Ter) NC_000016.10:77322388:C:A p.(Gly532Ter) NC_000016.10:77322388:C:A Identity +NM_001256213.2:c.752T>C NP_001243142.1:p.Val251Ala NC_000019.10:41985310:A:G p.(Val251Ala) NC_000019.10:41985310:A:G p.(Val251Ala) NC_000019.10:41985310:A:G Identity +NM_000038.6:c.1873C>A NP_000029.2:p.Gln625Lys NC_000005.10:112835079:C:A p.(Gln625Lys) NC_000005.10:112835079:C:A p.(Gln625Lys) NC_000005.10:112835079:C:A Identity +NM_001195573.1:c.3365G>A NP_001182502.1:p.Cys1122Tyr NC_000014.9:95104030:C:T p.(Cys1122Tyr) NC_000014.9:95104030:C:T p.(Cys1122Tyr) NC_000014.9:95104030:C:T Identity +NM_000101.4:c.574G>C NP_000092.2:p.Asp192His NC_000016.10:88643366:C:G p.(Asp192His) NC_000016.10:88643366:C:G p.(Asp192His) NC_000016.10:88643366:C:G Identity +NM_002180.3:c.2821C>T NP_002171.2:p.Arg941Trp NC_000011.10:68939569:C:T p.(Arg941Trp) NC_000011.10:68939569:C:T p.(Arg941Trp) NC_000011.10:68939569:C:T Identity +NM_001042498.3:c.841G>A NP_001035963.1:p.Gly281Ser NC_000023.11:48905067:C:T p.(Gly281Ser) NC_000023.11:48905067:C:T p.(Gly281Ser) NC_000023.11:48905067:C:T Identity +NM_005045.4:c.6869G>A NP_005036.2:p.Arg2290His NC_000007.14:103540257:C:T p.(Arg2290His) NC_000007.14:103540257:C:T p.(Arg2290His) NC_000007.14:103540257:C:T Identity +NM_001354966.2:c.215T>C NP_001341895.1:p.Leu72Pro NC_000005.10:147824685:A:G p.(Leu72Pro) NC_000005.10:147824685:A:G p.(Leu72Pro) NC_000005.10:147824685:A:G Identity +NM_004656.4:c.1444T>G NP_004647.1:p.Ser482Ala NC_000003.12:52403700:A:C p.(Ser482Ala) NC_000003.12:52403700:A:C p.(Ser482Ala) NC_000003.12:52403700:A:C Identity +NM_001184.4:c.4463C>T NP_001175.2:p.Ala1488Val NC_000003.12:142515434:G:A p.(Ala1488Val) NC_000003.12:142515434:G:A p.(Ala1488Val) NC_000003.12:142515434:G:A Identity +NM_001081676.2:c.5393T>C NP_001075145.1:p.Ile1798Thr NC_000002.12:165090612:A:G p.(Ile1798Thr) NC_000002.12:165090612:A:G p.(Ile1798Thr) NC_000002.12:165090612:A:G Identity +NM_000321.3:c.1915C>T NP_000312.2:p.Gln639Ter NC_000013.11:48456303:C:T p.(Gln639Ter) NC_000013.11:48456303:C:T p.(Gln639Ter) NC_000013.11:48456303:C:T Identity +NM_001136033.3:c.965G>C NP_001129505.1:p.Gly322Ala NC_000008.11:143817380:C:G p.(Gly322Ala) NC_000008.11:143817380:C:G p.(Gly322Ala) NC_000008.11:143817380:C:G Identity +NM_198506.5:c.1675G>A NP_940908.3:p.Val559Met NC_000004.12:109870423:G:A p.(Val559Met) NC_000004.12:109870423:G:A p.(Val559Met) NC_000004.12:109870423:G:A Identity +NM_001126131.2:c.713A>G NP_001119603.1:p.Gln238Arg NC_000015.10:89330222:T:C p.(Gln238Arg) NC_000015.10:89330222:T:C p.(Gln238Arg) NC_000015.10:89330222:T:C Identity +NM_000089.4:c.1573G>T NP_000080.2:p.Asp525Tyr NC_000007.14:94413704:G:T p.(Asp525Tyr) NC_000007.14:94413704:G:T p.(Asp525Tyr) NC_000007.14:94413704:G:T Identity +NM_000136.3:c.1513G>T NP_000127.2:p.Ala505Ser NC_000009.12:95107085:C:A p.(Ala505Ser) NC_000009.12:95107085:C:A p.(Ala505Ser) NC_000009.12:95107085:C:A Identity +NM_001081640.2:c.4371G>T NP_001075109.1:p.Gln1457His NC_000008.11:47888559:C:A p.(Gln1457His) NC_000008.11:47888559:C:A p.(Gln1457His) NC_000008.11:47888559:C:A Identity +NM_001042663.3:c.533A>G NP_001036128.2:p.His178Arg NC_000001.11:6474467:T:C p.(His178Arg) NC_000001.11:6474467:T:C p.(His178Arg) NC_000001.11:6474467:T:C Identity +NM_004975.4:c.1960A>T NP_004966.1:p.Ile654Phe NC_000020.11:49373599:T:A p.(Ile654Phe) NC_000020.11:49373599:T:A p.(Ile654Phe) NC_000020.11:49373599:T:A Identity +NM_181882.3:c.3698C>T NP_870998.2:p.Ala1233Val NC_000019.10:40394653:G:A p.(Ala1233Val) NC_000019.10:40394653:G:A p.(Ala1233Val) NC_000019.10:40394653:G:A Identity +NM_001042385.2:c.1920A>C NP_001035844.1:p.Gln640His NC_000002.12:44321433:T:G p.(Gln640His) NC_000002.12:44321433:T:G p.(Gln640His) NC_000002.12:44321433:T:G Identity +NM_000245.4:c.3231T>G NP_000236.2:p.Ile1077Met NC_000007.14:116775082:T:G p.(Ile1077Met) NC_000007.14:116775082:T:G p.(Ile1077Met) NC_000007.14:116775082:T:G Identity +NM_000109.4:c.4821G>C NP_000100.3:p.Lys1607Asn NC_000023.11:32380509:C:G p.(Lys1607Asn) NC_000023.11:32380509:C:G p.(Lys1607Asn) NC_000023.11:32380509:C:G Identity +NM_000179.3:c.487G>T NP_000170.1:p.Gly163Cys NC_000002.12:47795922:G:T p.(Gly163Cys) NC_000002.12:47795922:G:T p.(Gly163Cys) NC_000002.12:47795922:G:T Identity +NM_000465.4:c.1813A>G NP_000456.2:p.Thr605Ala NC_000002.12:214745156:T:C p.(Thr605Ala) NC_000002.12:214745156:T:C p.(Thr605Ala) NC_000002.12:214745156:T:C Identity +NM_006231.4:c.3988C>T NP_006222.2:p.Pro1330Ser NC_000012.12:132649322:G:A p.(Pro1330Ser) NC_000012.12:132649322:G:A p.(Pro1330Ser) NC_000012.12:132649322:G:A Identity +NM_002439.5:c.2194G>A NP_002430.3:p.Glu732Lys NC_000005.10:80768943:G:A p.(Glu732Lys) NC_000005.10:80768943:G:A p.(Glu732Lys) NC_000005.10:80768943:G:A Identity +NM_000813.3:c.860C>T NP_000804.1:p.Thr287Ile NC_000005.10:161331099:G:A p.(Thr287Ile) NC_000005.10:161331099:G:A p.(Thr287Ile) NC_000005.10:161331099:G:A Identity +NM_000383.4:c.1214C>T NP_000374.1:p.Pro405Leu NC_000021.9:44293110:C:T p.(Pro405Leu) NC_000021.9:44293110:C:T p.(Pro405Leu) NC_000021.9:44293110:C:T Identity +NM_001369512.1:c.1241G>C NP_001356441.1:p.Arg414Thr NC_000017.11:42329449:C:G p.(Arg414Thr) NC_000017.11:42329449:C:G p.(Arg414Thr) NC_000017.11:42329449:C:G Identity +NM_012281.3:c.33T>G NP_036413.1:p.Phe11Leu NC_000007.14:120274664:T:G p.(Phe11Leu) NC_000007.14:120274664:T:G p.(Phe11Leu) NC_000007.14:120274664:T:G Identity +NM_001999.4:c.3484T>C NP_001990.2:p.Cys1162Arg NC_000005.10:128338110:A:G p.(Cys1162Arg) NC_000005.10:128338110:A:G p.(Cys1162Arg) NC_000005.10:128338110:A:G Identity +NM_139318.5:c.15G>C NP_647479.2:p.Lys5Asn NC_000014.9:63045171:C:G p.(Lys5Asn) NC_000014.9:63045171:C:G p.(Lys5Asn) NC_000014.9:63045171:C:G Identity +NM_001008537.3:c.4235G>T NP_001008537.1:p.Arg1412Leu NC_000023.11:74740321:C:A p.(Arg1412Leu) NC_000023.11:74740321:C:A p.(Arg1412Leu) NC_000023.11:74740321:C:A Identity +NM_003362.4:c.812C>T NP_003353.1:p.Pro271Leu NC_000012.12:109109865:C:T p.(Pro271Leu) NC_000012.12:109109865:C:T p.(Pro271Leu) NC_000012.12:109109865:C:T Identity +NM_000238.4:c.134A>C NP_000229.1:p.Asn45Thr NC_000007.14:150974883:T:G p.(Asn45Thr) NC_000007.14:150974883:T:G p.(Asn45Thr) NC_000007.14:150974883:T:G Identity +NM_020376.4:c.617G>A NP_065109.1:p.Arg206Gln NC_000011.10:822526:G:A p.(Arg206Gln) NC_000011.10:822526:G:A p.(Arg206Gln) NC_000011.10:822526:G:A Identity +NM_001003786.3:c.952T>C NP_001003786.1:p.Phe318Leu NC_000017.11:63704377:A:G p.(Phe318Leu) NC_000017.11:63704377:A:G p.(Phe318Leu) NC_000017.11:63704377:A:G Identity +NM_005045.4:c.4435G>A NP_005036.2:p.Asp1479Asn NC_000007.14:103574167:C:T p.(Asp1479Asn) NC_000007.14:103574167:C:T p.(Asp1479Asn) NC_000007.14:103574167:C:T Identity +NM_014467.3:c.370G>A NP_055282.1:p.Ala124Thr NC_000023.11:100664787:G:A p.(Ala124Thr) NC_000023.11:100664787:G:A p.(Ala124Thr) NC_000023.11:100664787:G:A Identity +NM_007254.4:c.826G>C NP_009185.2:p.Gly276Arg NC_000019.10:49862728:C:G p.(Gly276Arg) NC_000019.10:49862728:C:G p.(Gly276Arg) NC_000019.10:49862728:C:G Identity +NM_000051.4:c.888A>C NP_000042.3:p.Lys296Asn NC_000011.10:108245012:A:C p.(Lys296Asn) NC_000011.10:108245012:A:C p.(Lys296Asn) NC_000011.10:108245012:A:C Identity +NM_001605.3:c.848T>C NP_001596.2:p.Val283Ala NC_000016.10:70269731:A:G p.(Val283Ala) NC_000016.10:70269731:A:G p.(Val283Ala) NC_000016.10:70269731:A:G Identity +NM_001144881.2:c.707G>T NP_001138353.1:p.Arg236Leu NC_000012.12:42466261:C:A p.(Arg236Leu) NC_000012.12:42466261:C:A p.(Arg236Leu) NC_000012.12:42466261:C:A Identity +NM_001369.3:c.12813G>A NP_001360.1:p.Trp4271Ter NC_000005.10:13716582:C:T p.(Trp4271Ter) NC_000005.10:13716582:C:T p.(Trp4271Ter) NC_000005.10:13716582:C:T Identity +NM_001005505.3:c.2095A>G NP_001005505.1:p.Lys699Glu NC_000003.12:50368185:T:C p.(Lys699Glu) NC_000003.12:50368185:T:C p.(Lys699Glu) NC_000003.12:50368185:T:C Identity +NM_001330540.2:c.335T>C NP_001317469.1:p.Ile112Thr NC_000001.11:45508871:T:C p.(Ile112Thr) NC_000001.11:45508871:T:C p.(Ile112Thr) NC_000001.11:45508871:T:C Identity +NM_000211.5:c.634A>G NP_000202.3:p.Asn212Asp NC_000021.9:44901598:T:C p.(Asn212Asp) NC_000021.9:44901598:T:C p.(Asn212Asp) NC_000021.9:44901598:T:C Identity +NM_004329.3:c.1505A>C NP_004320.2:p.Glu502Ala NC_000010.11:86923624:A:C p.(Glu502Ala) NC_000010.11:86923624:A:C p.(Glu502Ala) NC_000010.11:86923624:A:C Identity +NM_001127698.2:c.3118T>G NP_001121170.1:p.Leu1040Val NC_000005.10:148131321:T:G p.(Leu1040Val) NC_000005.10:148131321:T:G p.(Leu1040Val) NC_000005.10:148131321:T:G Identity +NM_001172309.2:c.896C>G NP_001165780.1:p.Thr299Arg NC_000001.11:77933315:C:G p.(Thr299Arg) NC_000001.11:77933315:C:G p.(Thr299Arg) NC_000001.11:77933315:C:G Identity +NM_004260.4:c.722C>T NP_004251.4:p.Ala241Val NC_000008.11:144516396:G:A p.(Ala241Val) NC_000008.11:144516396:G:A p.(Ala241Val) NC_000008.11:144516396:G:A Identity +NM_000083.3:c.1814T>C NP_000074.3:p.Val605Ala NC_000007.14:143342388:T:C p.(Val605Ala) NC_000007.14:143342388:T:C p.(Val605Ala) NC_000007.14:143342388:T:C Identity +NM_000577.5:c.115G>T NP_000568.1:p.Ala39Ser NC_000002.12:113129627:G:T p.(Ala39Ser) NC_000002.12:113129627:G:T p.(Ala39Ser) NC_000002.12:113129627:G:T Identity +NM_000628.5:c.20G>A NP_000619.3:p.Ser7Asn NC_000021.9:33266484:G:A p.(Ser7Asn) NC_000021.9:33266484:G:A p.(Ser7Asn) NC_000021.9:33266484:G:A Identity +NM_004304.5:c.775C>A NP_004295.2:p.Arg259Ser NC_000002.12:29717589:G:T p.(Arg259Ser) NC_000002.12:29717589:G:T p.(Arg259Ser) NC_000002.12:29717589:G:T Identity +NM_015180.6:c.4799A>C NP_055995.4:p.Asn1600Thr NC_000014.9:64016542:A:C p.(Asn1600Thr) NC_000014.9:64016542:A:C p.(Asn1600Thr) NC_000014.9:64016542:A:C Identity +NM_001257374.3:c.811G>A NP_001244303.1:p.Glu271Lys NC_000001.11:156136110:G:A p.(Glu271Lys) NC_000001.11:156136110:G:A p.(Glu271Lys) NC_000001.11:156136110:G:A Identity +NM_001256850.1:c.100562G>C NP_001243779.1:p.Trp33521Ser NC_000002.12:178531129:C:G p.(Trp33521Ser) NC_000002.12:178531129:C:G p.(Trp33521Ser) NC_000002.12:178531129:C:G Identity +NM_003373.4:c.1816A>G NP_003364.1:p.Ile606Val NC_000010.11:74097275:A:G p.(Ile606Val) NC_000010.11:74097275:A:G p.(Ile606Val) NC_000010.11:74097275:A:G Identity +NM_001277115.2:c.6706G>C NP_001264044.1:p.Gly2236Arg NC_000007.14:21710574:G:C p.(Gly2236Arg) NC_000007.14:21710574:G:C p.(Gly2236Arg) NC_000007.14:21710574:G:C Identity +NM_000088.4:c.4237G>A NP_000079.2:p.Asp1413Asn NC_000017.11:50185788:C:T p.(Asp1413Asn) NC_000017.11:50185788:C:T p.(Asp1413Asn) NC_000017.11:50185788:C:T Identity +NM_001330588.2:c.1291A>G NP_001317517.1:p.Ile431Val NC_000013.11:102633995:A:G p.(Ile431Val) NC_000013.11:102633995:A:G p.(Ile431Val) NC_000013.11:102633995:A:G Identity +NM_000146.4:c.466G>A NP_000137.2:p.Gly156Ser NC_000019.10:48966672:G:A p.(Gly156Ser) NC_000019.10:48966672:G:A p.(Gly156Ser) NC_000019.10:48966672:G:A Identity +NM_000377.3:c.1316G>C NP_000368.1:p.Arg439Pro NC_000023.11:48689043:G:C p.(Arg439Pro) NC_000023.11:48689043:G:C p.(Arg439Pro) NC_000023.11:48689043:G:C Identity +NM_000068.4:c.589G>A NP_000059.3:p.Val197Ile NC_000019.10:13371729:C:T p.(Val197Ile) NC_000019.10:13371729:C:T p.(Val197Ile) NC_000019.10:13371729:C:T Identity +NM_016204.4:c.314C>T NP_057288.1:p.Ala105Val NC_000010.11:47322981:C:T p.(Ala105Val) NC_000010.11:47322981:C:T p.(Ala105Val) NC_000010.11:47322981:C:T Identity +NM_003907.3:c.1459G>A NP_003898.2:p.Glu487Lys NC_000003.12:184142515:G:A p.(Glu487Lys) NC_000003.12:184142515:G:A p.(Glu487Lys) NC_000003.12:184142515:G:A Identity +NM_001018041.2:c.149G>T NP_001018051.1:p.Gly50Val NC_000006.12:145735349:C:A p.(Gly50Val) NC_000006.12:145735349:C:A p.(Gly50Val) NC_000006.12:145735349:C:A Identity +NM_003816.3:c.2116A>G NP_003807.1:p.Ile706Val NC_000008.11:39090093:A:G p.(Ile706Val) NC_000008.11:39090093:A:G p.(Ile706Val) NC_000008.11:39090093:A:G Identity +NM_001308258.2:c.960dup NP_001295187.1:p.Trp321fs NC_000003.12:149155158:GGG:GGGG p.(Trp321ValfsTer22) NC_000003.12:149155158:GGG:GGGG p.(Trp321ValfsTer22) ERR:SPDI Analogous +NM_001032221.6:c.214G>A NP_001027392.1:p.Glu72Lys NC_000009.12:127658418:G:A p.(Glu72Lys) NC_000009.12:127658418:G:A p.(Glu72Lys) NC_000009.12:127658418:G:A Identity +NM_001278237.2:c.286G>A NP_001265166.1:p.Val96Met NC_000012.12:63808825:G:A p.(Val96Met) NC_000012.12:63808825:G:A p.(Val96Met) NC_000012.12:63808825:G:A Identity +NM_001347828.2:c.2417T>A NP_001334757.1:p.Leu806His NC_000004.12:54285388:T:A p.(Leu806His) NC_000004.12:54285388:T:A p.(Leu806His) NC_000004.12:54285388:T:A Identity +NM_000245.4:c.3353T>C NP_000236.2:p.Ile1118Thr NC_000007.14:116778787:T:C p.(Ile1118Thr) NC_000007.14:116778787:T:C p.(Ile1118Thr) NC_000007.14:116778787:T:C Identity +NM_000076.2:c.563C>T NP_000067.1:p.Pro188Leu NC_000011.10:2884926:G:A p.(Pro188Leu) NC_000011.10:2884926:G:A p.(Pro188Leu) NC_000011.10:2884926:G:A Identity +NM_001605.3:c.443C>T NP_001596.2:p.Ala148Val NC_000016.10:70276521:G:A p.(Ala148Val) NC_000016.10:70276521:G:A p.(Ala148Val) NC_000016.10:70276521:G:A Identity +NM_001407960.1:c.3296T>C NP_001394889.1:p.Phe1099Ser NC_000017.11:43091853:A:G p.(Phe1099Ser) NC_000017.11:43091853:A:G p.(Phe1099Ser) NC_000017.11:43091853:A:G Identity +NM_032444.4:c.2978A>G NP_115820.2:p.Glu993Gly NC_000016.10:3590659:T:C p.(Glu993Gly) NC_000016.10:3590659:T:C p.(Glu993Gly) NC_000016.10:3590659:T:C Identity +NM_032043.3:c.2675T>A NP_114432.2:p.Leu892His NC_000017.11:61686065:A:T p.(Leu892His) NC_000017.11:61686065:A:T p.(Leu892His) NC_000017.11:61686065:A:T Identity +NM_001184985.2:c.7783G>T NP_001171914.1:p.Ala2595Ser NC_000012.12:908645:G:T p.(Ala2595Ser) NC_000012.12:908645:G:T p.(Ala2595Ser) NC_000012.12:908645:G:T Identity +NM_001172509.2:c.426G>A NP_001165980.1:p.Met142Ile NC_000002.12:199381740:C:T p.(Met142Ile) NC_000002.12:199381740:C:T p.(Met142Ile) NC_000002.12:199381740:C:T Identity +NM_015243.3:c.2338A>C NP_056058.2:p.Lys780Gln NC_000008.11:99192879:A:C p.(Lys780Gln) NC_000008.11:99192879:A:C p.(Lys780Gln) NC_000008.11:99192879:A:C Identity +NM_001349370.3:c.1487G>A NP_001336299.1:p.Arg496Gln NC_000003.12:47123016:C:T p.(Arg496Gln) NC_000003.12:47123016:C:T p.(Arg496Gln) NC_000003.12:47123016:C:T Identity +NM_002439.5:c.1819G>A NP_002430.3:p.Val607Met NC_000005.10:80761600:G:A p.(Val607Met) NC_000005.10:80761600:G:A p.(Val607Met) NC_000005.10:80761600:G:A Identity +NM_005419.4:c.429T>A NP_005410.1:p.His143Gln NC_000012.12:56355484:A:T p.(His143Gln) NC_000012.12:56355484:A:T p.(His143Gln) NC_000012.12:56355484:A:T Identity +NM_001849.4:c.694A>G NP_001840.3:p.Asn232Asp NC_000021.9:46112556:A:G p.(Asn232Asp) NC_000021.9:46112556:A:G p.(Asn232Asp) NC_000021.9:46112556:A:G Identity +NM_002439.5:c.3265A>T NP_002430.3:p.Lys1089Ter NC_000005.10:80873249:A:T p.(Lys1089Ter) NC_000005.10:80873249:A:T p.(Lys1089Ter) NC_000005.10:80873249:A:T Identity +NM_152309.3:c.1039G>A NP_689522.2:p.Gly347Arg NC_000010.11:96648804:C:T p.(Gly347Arg) NC_000010.11:96648804:C:T p.(Gly347Arg) NC_000010.11:96648804:C:T Identity +NM_001040142.2:c.3943A>G NP_001035232.1:p.Arg1315Gly NC_000002.12:165373317:A:G p.(Arg1315Gly) NC_000002.12:165373317:A:G p.(Arg1315Gly) NC_000002.12:165373317:A:G Identity +NM_022168.4:c.1666G>A NP_071451.2:p.Glu556Lys NC_000002.12:162278303:C:T p.(Glu556Lys) NC_000002.12:162278303:C:T p.(Glu556Lys) NC_000002.12:162278303:C:T Identity +NM_000057.4:c.2122G>A NP_000048.1:p.Gly708Arg NC_000015.10:90765342:G:A p.(Gly708Arg) NC_000015.10:90765342:G:A p.(Gly708Arg) NC_000015.10:90765342:G:A Identity +NM_001144964.1:c.2258G>T NP_001138436.1:p.Cys753Phe NC_000018.10:58389157:G:T p.(Cys753Phe) NC_000018.10:58389157:G:T p.(Cys753Phe) NC_000018.10:58389157:G:T Identity +NM_001204255.2:c.743A>C NP_001191184.1:p.Lys248Thr NC_000004.12:76168417:T:G p.(Lys248Thr) NC_000004.12:76168417:T:G p.(Lys248Thr) NC_000004.12:76168417:T:G Identity +NM_001111034.3:c.694G>A NP_001104504.1:p.Gly232Arg NC_000019.10:11576283:C:T p.(Gly232Arg) NC_000019.10:11576283:C:T p.(Gly232Arg) NC_000019.10:11576283:C:T Identity +NM_001256442.2:c.569G>C NP_001243371.1:p.Gly190Ala NC_000016.10:29813622:G:C p.(Gly190Ala) NC_000016.10:29813622:G:C p.(Gly190Ala) NC_000016.10:29813622:G:C Identity +NM_001077183.3:c.3413A>G NP_001070651.1:p.Asn1138Ser NC_000016.10:2080311:A:G p.(Asn1138Ser) NC_000016.10:2080311:A:G p.(Asn1138Ser) NC_000016.10:2080311:A:G Identity +NM_001171653.2:c.1807G>A NP_001165124.1:p.Val603Ile NC_000002.12:144399307:C:T p.(Val603Ile) NC_000002.12:144399307:C:T p.(Val603Ile) NC_000002.12:144399307:C:T Identity +NM_001167579.2:c.909G>T NP_001161051.1:p.Gln303His NC_000005.10:177388344:G:T p.(Gln303His) NC_000005.10:177388344:G:T p.(Gln303His) NC_000005.10:177388344:G:T Identity +NM_000101.4:c.452C>T NP_000092.2:p.Pro151Leu NC_000016.10:88643488:G:A p.(Pro151Leu) NC_000016.10:88643488:G:A p.(Pro151Leu) NC_000016.10:88643488:G:A Identity +NM_032888.4:c.1060C>T NP_116277.2:p.Gln354Ter NC_000009.12:114168614:C:T p.(Gln354Ter) NC_000009.12:114168614:C:T p.(Gln354Ter) NC_000009.12:114168614:C:T Identity +NM_058216.3:c.740C>T NP_478123.1:p.Pro247Leu NC_000017.11:58709892:C:T p.(Pro247Leu) NC_000017.11:58709892:C:T p.(Pro247Leu) NC_000017.11:58709892:C:T Identity +NM_000222.3:c.316T>G NP_000213.1:p.Ser106Ala NC_000004.12:54695759:T:G p.(Ser106Ala) NC_000004.12:54695759:T:G p.(Ser106Ala) NC_000004.12:54695759:T:G Identity +NM_000249.4:c.520G>A NP_000240.1:p.Gly174Arg NC_000003.12:37008879:G:A p.(Gly174Arg) NC_000003.12:37008879:G:A p.(Gly174Arg) NC_000003.12:37008879:G:A Identity +NM_000081.4:c.9185C>A NP_000072.2:p.Pro3062Gln NC_000001.11:235724157:G:T p.(Pro3062Gln) NC_000001.11:235724157:G:T p.(Pro3062Gln) NC_000001.11:235724157:G:T Identity +NM_001160306.2:c.4373G>A NP_001153778.1:p.Gly1458Asp NC_000021.9:32631202:C:T p.(Gly1458Asp) NC_000021.9:32631202:C:T p.(Gly1458Asp) NC_000021.9:32631202:C:T Identity +NM_002661.5:c.1279G>A NP_002652.2:p.Asp427Asn NC_000016.10:81900696:G:A p.(Asp427Asn) NC_000016.10:81900696:G:A p.(Asp427Asn) NC_000016.10:81900696:G:A Identity +NM_001330609.2:c.245G>A NP_001317538.1:p.Arg82Lys NC_000008.11:125078759:C:T p.(Arg82Lys) NC_000008.11:125078759:C:T p.(Arg82Lys) NC_000008.11:125078759:C:T Identity +NM_006393.3:c.2308A>G NP_006384.1:p.Met770Val NC_000010.11:20813976:T:C p.(Met770Val) NC_000010.11:20813976:T:C p.(Met770Val) NC_000010.11:20813976:T:C Identity +NM_001160227.2:c.1142T>G NP_001153699.1:p.Val381Gly NC_000015.10:44651804:A:C p.(Val381Gly) NC_000015.10:44651804:A:C p.(Val381Gly) NC_000015.10:44651804:A:C Identity +NM_000138.5:c.4745del NP_000129.3:p.Thr1582fs NC_000015.10:48467939:G: p.(Thr1582AsnfsTer58) NC_000015.10:48467939:G: p.(Thr1582AsnfsTer58) NC_000015.10:48467939:G: Analogous +NM_001364683.1:c.718C>A NP_001351612.1:p.His240Asn NC_000001.11:154169329:G:T p.(His240Asn) NC_000001.11:154169329:G:T p.(His240Asn) NC_000001.11:154169329:G:T Identity +NM_000391.4:c.1099T>C NP_000382.3:p.Ser367Pro NC_000011.10:6616050:A:G p.(Ser367Pro) NC_000011.10:6616050:A:G p.(Ser367Pro) NC_000011.10:6616050:A:G Identity +NM_000051.4:c.5591C>T NP_000042.3:p.Thr1864Ile NC_000011.10:108304768:C:T p.(Thr1864Ile) NC_000011.10:108304768:C:T p.(Thr1864Ile) NC_000011.10:108304768:C:T Identity +NM_006231.4:c.2489_2493del NP_006222.2:p.Glu830fs NC_000012.12:132664437:CATCTC:C p.(Glu830GlyfsTer77) NC_000012.12:132664437:CATCTC:C p.(Glu830GlyfsTer77) NC_000012.12:132664437:CATCT: Analogous +NM_004281.4:c.233C>T NP_004272.2:p.Pro78Leu NC_000010.11:119669902:C:T p.(Pro78Leu) NC_000010.11:119669902:C:T p.(Pro78Leu) NC_000010.11:119669902:C:T Identity +NM_001207055.2:c.1652T>C NP_001193984.1:p.Val551Ala NC_000020.11:32800230:T:C p.(Val551Ala) NC_000020.11:32800230:T:C p.(Val551Ala) NC_000020.11:32800230:T:C Identity +NM_001165963.4:c.3863A>C NP_001159435.1:p.Asp1288Ala NC_000002.12:166012124:T:G p.(Asp1288Ala) NC_000002.12:166012124:T:G p.(Asp1288Ala) NC_000002.12:166012124:T:G Identity +NM_002241.5:c.304C>A NP_002232.2:p.Pro102Thr NC_000001.11:160042228:G:T p.(Pro102Thr) NC_000001.11:160042228:G:T p.(Pro102Thr) NC_000001.11:160042228:G:T Identity +NM_001005407.2:c.4196G>A NP_001005407.1:p.Arg1399His NC_000016.10:1210943:G:A p.(Arg1399His) NC_000016.10:1210943:G:A p.(Arg1399His) NC_000016.10:1210943:G:A Identity +NM_001145661.2:c.1102C>G NP_001139133.1:p.Pro368Ala NC_000003.12:128481859:G:C p.(Pro368Ala) NC_000003.12:128481859:G:C p.(Pro368Ala) NC_000003.12:128481859:G:C Identity +NM_016247.4:c.1276_1277insC NP_057331.2:p.Glu426fs NC_000003.12:101246068::G p.(Glu426AlafsTer11) NC_000003.12:101246067:T:G p.(Glu426AlafsTer11) NC_000003.12:101246068:TC:G Analogous +NM_001130955.2:c.1855G>A NP_001124427.2:p.Asp619Asn NC_000019.10:7462279:G:A p.(Asp619Asn) NC_000019.10:7462279:G:A p.(Asp619Asn) NC_000019.10:7462279:G:A Identity +NM_000397.4:c.867G>T NP_000388.2:p.Trp289Cys NC_000023.11:37801317:G:T p.(Trp289Cys) NC_000023.11:37801317:G:T p.(Trp289Cys) NC_000023.11:37801317:G:T Identity +NM_001134363.3:c.3612G>T NP_001127835.2:p.Glu1204Asp NC_000010.11:110835905:G:T p.(Glu1204Asp) NC_000010.11:110835905:G:T p.(Glu1204Asp) NC_000010.11:110835905:G:T Identity +NM_005911.6:c.8G>A NP_005902.1:p.Gly3Glu NC_000002.12:85539294:G:A p.(Gly3Glu) NC_000002.12:85539294:G:A p.(Gly3Glu) NC_000002.12:85539294:G:A Identity +NM_001128227.3:c.2186T>C NP_001121699.1:p.Val729Ala NC_000009.12:36217440:A:G p.(Val729Ala) NC_000009.12:36217440:A:G p.(Val729Ala) NC_000009.12:36217440:A:G Identity +NM_000127.3:c.698del NP_000118.2:p.Ser233fs NC_000008.11:118110348:G: p.(Ser233LeufsTer19) NC_000008.11:118110348:G: p.(Ser233LeufsTer19) NC_000008.11:118110348:G: Analogous +NM_021147.5:c.482T>C NP_066970.3:p.Leu161Pro NC_000005.10:55232445:A:G p.(Leu161Pro) NC_000005.10:55232445:A:G p.(Leu161Pro) NC_000005.10:55232445:A:G Identity +NM_001160302.2:c.1846C>A NP_001153774.1:p.Gln616Lys NC_000021.9:32666538:G:T p.(Gln616Lys) NC_000021.9:32666538:G:T p.(Gln616Lys) NC_000021.9:32666538:G:T Identity +NM_001308275.2:c.308T>C NP_001295204.1:p.Phe103Ser NC_000010.11:93777398:T:C p.(Phe103Ser) NC_000010.11:93777398:T:C p.(Phe103Ser) NC_000010.11:93777398:T:C Identity +NM_206933.4:c.10208G>A NP_996816.3:p.Cys3403Tyr NC_000001.11:215786848:C:T p.(Cys3403Tyr) NC_000001.11:215786848:C:T p.(Cys3403Tyr) NC_000001.11:215786848:C:T Identity +NM_000057.4:c.1526C>T NP_000048.1:p.Pro509Leu NC_000015.10:90760898:C:T p.(Pro509Leu) NC_000015.10:90760898:C:T p.(Pro509Leu) NC_000015.10:90760898:C:T Identity +NM_006269.2:c.4783C>T NP_006260.1:p.Arg1595Trp NC_000008.11:54628664:C:T p.(Arg1595Trp) NC_000008.11:54628664:C:T p.(Arg1595Trp) NC_000008.11:54628664:C:T Identity +NM_000017.4:c.856G>A NP_000008.1:p.Ala286Thr NC_000012.12:120738592:G:A p.(Ala286Thr) NC_000012.12:120738592:G:A p.(Ala286Thr) NC_000012.12:120738592:G:A Identity +NM_001286075.2:c.1195C>T NP_001273004.1:p.Arg399Cys NC_000016.10:28898256:C:T p.(Arg399Cys) NC_000016.10:28898256:C:T p.(Arg399Cys) NC_000016.10:28898256:C:T Identity +NM_000593.6:c.808C>T NP_000584.3:p.Arg270Cys NC_000006.12:32852144:G:A p.(Arg270Cys) NC_000006.12:32852144:G:A p.(Arg270Cys) NC_000006.12:32852144:G:A Identity +NM_001001890.3:c.835C>T NP_001001890.1:p.Arg279Cys NC_000021.9:34799351:G:A p.(Arg279Cys) NC_000021.9:34799351:G:A p.(Arg279Cys) NC_000021.9:34799351:G:A Identity +NM_015662.3:c.2050G>A NP_056477.1:p.Val684Ile NC_000002.12:27462765:C:T p.(Val684Ile) NC_000002.12:27462765:C:T p.(Val684Ile) NC_000002.12:27462765:C:T Identity +NM_000548.5:c.4133C>G NP_000539.2:p.Pro1378Arg NC_000016.10:2084354:C:G p.(Pro1378Arg) NC_000016.10:2084354:C:G p.(Pro1378Arg) NC_000016.10:2084354:C:G Identity +NM_001256850.1:c.82929G>A NP_001243779.1:p.Trp27643Ter NC_000002.12:178557409:C:T p.(Trp27643Ter) NC_000002.12:178557409:C:T p.(Trp27643Ter) NC_000002.12:178557409:C:T Identity +NM_005359.6:c.793A>G NP_005350.1:p.Thr265Ala NC_000018.10:51058344:A:G p.(Thr265Ala) NC_000018.10:51058344:A:G p.(Thr265Ala) NC_000018.10:51058344:A:G Identity +NM_001037631.3:c.255T>G NP_001032720.1:p.Cys85Trp NC_000002.12:203870730:T:G p.(Cys85Trp) NC_000002.12:203870730:T:G p.(Cys85Trp) NC_000002.12:203870730:T:G Identity +NM_001126054.3:c.1076C>T NP_001119526.1:p.Ala359Val NC_000023.11:41609982:G:A p.(Ala359Val) NC_000023.11:41609982:G:A p.(Ala359Val) NC_000023.11:41609982:G:A Identity +NM_000548.5:c.4247C>T NP_000539.2:p.Ala1416Val NC_000016.10:2084468:C:T p.(Ala1416Val) NC_000016.10:2084468:C:T p.(Ala1416Val) NC_000016.10:2084468:C:T Identity +NM_001164617.2:c.520C>A NP_001158089.1:p.Leu174Met NC_000023.11:133753993:G:T p.(Leu174Met) NC_000023.11:133753993:G:T p.(Leu174Met) NC_000023.11:133753993:G:T Identity +NM_000334.4:c.2900C>T NP_000325.4:p.Thr967Ile NC_000017.11:63949481:G:A p.(Thr967Ile) NC_000017.11:63949481:G:A p.(Thr967Ile) NC_000017.11:63949481:G:A Identity +NM_001024688.3:c.421A>C NP_001019859.1:p.Lys141Gln NC_000008.11:89971207:T:G p.(Lys141Gln) NC_000008.11:89971207:T:G p.(Lys141Gln) NC_000008.11:89971207:T:G Identity +NM_001122752.2:c.862G>A NP_001116224.1:p.Val288Ile NC_000003.12:167794804:G:A p.(Val288Ile) NC_000003.12:167794804:G:A p.(Val288Ile) NC_000003.12:167794804:G:A Identity +NM_000038.6:c.6656C>T NP_000029.2:p.Ala2219Val NC_000005.10:112842249:C:T p.(Ala2219Val) NC_000005.10:112842249:C:T p.(Ala2219Val) NC_000005.10:112842249:C:T Identity +NM_001080522.2:c.2736G>C NP_001073991.2:p.Arg912Ser NC_000004.12:15557413:G:C p.(Arg912Ser) NC_000004.12:15557413:G:C p.(Arg912Ser) NC_000004.12:15557413:G:C Identity +NM_032119.4:c.16123_16124del NP_115495.3:p.Gln5375fs NC_000005.10:90815662:CA: p.(Gln5375GlufsTer27) NC_000005.10:90815662:CA: p.(Gln5375GlufsTer27) NC_000005.10:90815662:CA: Analogous +NM_000166.6:c.527C>T NP_000157.1:p.Thr176Ile NC_000023.11:71224233:C:T p.(Thr176Ile) NC_000023.11:71224233:C:T p.(Thr176Ile) NC_000023.11:71224233:C:T Identity +NM_001081676.2:c.1027G>T NP_001075145.1:p.Ala343Ser NC_000002.12:165162311:C:A p.(Ala343Ser) NC_000002.12:165162311:C:A p.(Ala343Ser) NC_000002.12:165162311:C:A Identity +NM_001098802.3:c.293C>G NP_001092272.1:p.Ala98Gly NC_000009.12:78240061:C:G p.(Ala98Gly) NC_000009.12:78240061:C:G p.(Ala98Gly) NC_000009.12:78240061:C:G Identity +NM_003880.4:c.714T>A NP_003871.1:p.Cys238Ter NC_000006.12:112068328:T:A p.(Cys238Ter) NC_000006.12:112068328:T:A p.(Cys238Ter) NC_000006.12:112068328:T:A Identity +NM_206933.4:c.8332C>T NP_996816.3:p.Gln2778Ter NC_000001.11:215878989:G:A p.(Gln2778Ter) NC_000001.11:215878989:G:A p.(Gln2778Ter) NC_000001.11:215878989:G:A Identity +NM_001174150.2:c.64G>A NP_001167621.1:p.Val22Met NC_000003.12:93995877:G:A p.(Val22Met) NC_000003.12:93995877:G:A p.(Val22Met) NC_000003.12:93995877:G:A Identity +NM_002187.3:c.200A>C NP_002178.2:p.Glu67Ala NC_000005.10:159323217:T:G p.(Glu67Ala) NC_000005.10:159323217:T:G p.(Glu67Ala) NC_000005.10:159323217:T:G Identity +NM_012193.4:c.811G>T NP_036325.2:p.Val271Phe NC_000011.10:86951944:C:A p.(Val271Phe) NC_000011.10:86951944:C:A p.(Val271Phe) NC_000011.10:86951944:C:A Identity +NM_000444.6:c.2140del NP_000435.3:p.Gln714fs NC_000023.11:22245401:C: p.(Gln714SerfsTer26) NC_000023.11:22245401:C: p.(Gln714SerfsTer26) NC_000023.11:22245401:C: Analogous +NM_001291902.2:c.2273A>G NP_001278831.1:p.Asn758Ser NC_000011.10:68436903:A:G p.(Asn758Ser) NC_000011.10:68436903:A:G p.(Asn758Ser) NC_000011.10:68436903:A:G Identity +NM_001100.4:c.49G>A NP_001091.1:p.Gly17Ser NC_000001.11:229433066:C:T p.(Gly17Ser) NC_000001.11:229433066:C:T p.(Gly17Ser) NC_000001.11:229433066:C:T Identity +NM_005732.4:c.2819C>T NP_005723.2:p.Ala940Val NC_000005.10:132608714:C:T p.(Ala940Val) NC_000005.10:132608714:C:T p.(Ala940Val) NC_000005.10:132608714:C:T Identity +NM_001301012.2:c.425G>A NP_001287941.1:p.Gly142Asp NC_000006.12:133462626:G:A p.(Gly142Asp) NC_000006.12:133462626:G:A p.(Gly142Asp) NC_000006.12:133462626:G:A Identity +NM_000179.3:c.2344C>A NP_000170.1:p.Leu782Ile NC_000002.12:47800326:C:A p.(Leu782Ile) NC_000002.12:47800326:C:A p.(Leu782Ile) NC_000002.12:47800326:C:A Identity +NM_000098.3:c.1244_1245del NP_000089.1:p.Leu415fs NC_000001.11:53210916:CTC:C p.(Leu415GlnfsTer6) NC_000001.11:53210916:CTC:C p.(Leu415GlnfsTer6) NC_000001.11:53210917:TC: Analogous +NM_005055.5:c.11dup NP_005046.2:p.Asp4fs NC_000011.10:47448953:T:TT p.(Asp4GlufsTer154) NC_000011.10:47448953:T:TT p.(Asp4GlufsTer154) ERR:SPDI Analogous +NM_001083116.3:c.791T>C NP_001076585.1:p.Val264Ala NC_000010.11:70598929:A:G p.(Val264Ala) NC_000010.11:70598929:A:G p.(Val264Ala) NC_000010.11:70598929:A:G Identity +NM_001001523.2:c.344C>A NP_001001523.1:p.Thr115Asn NC_000001.11:151815316:G:T p.(Thr115Asn) NC_000001.11:151815316:G:T p.(Thr115Asn) NC_000001.11:151815316:G:T Identity +NM_004064.5:c.445G>T NP_004055.1:p.Ala149Ser NC_000012.12:12718283:G:T p.(Ala149Ser) NC_000012.12:12718283:G:T p.(Ala149Ser) NC_000012.12:12718283:G:T Identity +NM_000081.4:c.2192A>G NP_000072.2:p.Tyr731Cys NC_000001.11:235808625:T:C p.(Tyr731Cys) NC_000001.11:235808625:T:C p.(Tyr731Cys) NC_000001.11:235808625:T:C Identity +NM_001036.6:c.5398C>A NP_001027.3:p.Pro1800Thr NC_000015.10:33662927:C:A p.(Pro1800Thr) NC_000015.10:33662927:C:A p.(Pro1800Thr) NC_000015.10:33662927:C:A Identity +NM_001195227.2:c.298G>T NP_001182156.1:p.Ala100Ser NC_000019.10:49167946:G:T p.(Ala100Ser) NC_000019.10:49167946:G:T p.(Ala100Ser) NC_000019.10:49167946:G:T Identity +NM_001363813.1:c.639_641del NP_001350742.1:p.Gly214del NC_000017.11:65557979:CCCCC:CC p.(Gly214del) NC_000017.11:65557979:CCCCC:CC p.(Gly214del) NC_000017.11:65557979:CCC: Identity +NM_001145715.3:c.965T>C NP_001139187.1:p.Ile322Thr NC_000007.14:99185097:A:G p.(Ile322Thr) NC_000007.14:99185097:A:G p.(Ile322Thr) NC_000007.14:99185097:A:G Identity +NM_006231.4:c.4454G>T NP_006222.2:p.Arg1485Leu NC_000012.12:132643320:C:A p.(Arg1485Leu) NC_000012.12:132643320:C:A p.(Arg1485Leu) NC_000012.12:132643320:C:A Identity +NM_001363813.1:c.1670G>T NP_001350742.1:p.Ser557Ile NC_000017.11:65537365:C:A p.(Ser557Ile) NC_000017.11:65537365:C:A p.(Ser557Ile) NC_000017.11:65537365:C:A Identity +NM_004998.4:c.487C>T NP_004989.2:p.Arg163Trp NC_000015.10:59231724:G:A p.(Arg163Trp) NC_000015.10:59231724:G:A p.(Arg163Trp) NC_000015.10:59231724:G:A Identity +NM_001142279.2:c.343C>G NP_001135751.1:p.Gln115Glu NC_000013.11:50934905:C:G p.(Gln115Glu) NC_000013.11:50934905:C:G p.(Gln115Glu) NC_000013.11:50934905:C:G Identity +NM_001352500.2:c.1264C>T NP_001339429.1:p.Arg422Cys NC_000013.11:49541735:G:A p.(Arg422Cys) NC_000013.11:49541735:G:A p.(Arg422Cys) NC_000013.11:49541735:G:A Identity +NM_001098802.3:c.2002A>G NP_001092272.1:p.Arg668Gly NC_000009.12:78266594:A:G p.(Arg668Gly) NC_000009.12:78266594:A:G p.(Arg668Gly) NC_000009.12:78266594:A:G Identity +NM_001145847.2:c.1898C>T NP_001139319.1:p.Pro633Leu NC_000004.12:15991279:G:A p.(Pro633Leu) NC_000004.12:15991279:G:A p.(Pro633Leu) NC_000004.12:15991279:G:A Identity +NM_001321851.1:c.1490A>T NP_001308780.1:p.Glu497Val NC_000014.9:92007673:T:A p.(Glu497Val) NC_000014.9:92007673:T:A p.(Glu497Val) NC_000014.9:92007673:T:A Identity +NM_006269.2:c.4793G>A NP_006260.1:p.Ser1598Asn NC_000008.11:54628674:G:A p.(Ser1598Asn) NC_000008.11:54628674:G:A p.(Ser1598Asn) NC_000008.11:54628674:G:A Identity +NM_001267578.2:c.1213C>T NP_001254507.1:p.Arg405Trp NC_000001.11:179917696:C:T p.(Arg405Trp) NC_000001.11:179917696:C:T p.(Arg405Trp) NC_000001.11:179917696:C:T Identity +NM_001363823.2:c.1445T>C NP_001350752.1:p.Met482Thr NC_000002.12:32137142:T:C p.(Met482Thr) NC_000002.12:32137142:T:C p.(Met482Thr) NC_000002.12:32137142:T:C Identity +NM_024675.4:c.604C>G NP_078951.2:p.Leu202Val NC_000016.10:23635941:G:C p.(Leu202Val) NC_000016.10:23635941:G:C p.(Leu202Val) NC_000016.10:23635941:G:C Identity +NM_000355.4:c.857C>T NP_000346.2:p.Ala286Val NC_000022.11:30615703:C:T p.(Ala286Val) NC_000022.11:30615703:C:T p.(Ala286Val) NC_000022.11:30615703:C:T Identity +NM_000214.3:c.347A>T NP_000205.1:p.Asp116Val NC_000020.11:10672740:T:A p.(Asp116Val) NC_000020.11:10672740:T:A p.(Asp116Val) NC_000020.11:10672740:T:A Identity +NM_001256850.1:c.102158T>C NP_001243779.1:p.Leu34053Pro NC_000002.12:178528669:A:G p.(Leu34053Pro) NC_000002.12:178528669:A:G p.(Leu34053Pro) NC_000002.12:178528669:A:G Identity +NM_001035.3:c.9669G>C NP_001026.2:p.Glu3223Asp NC_000001.11:237707036:G:C p.(Glu3223Asp) NC_000001.11:237707036:G:C p.(Glu3223Asp) NC_000001.11:237707036:G:C Identity +NM_000143.4:c.1119C>A NP_000134.2:p.Asn373Lys NC_000001.11:241502559:G:T p.(Asn373Lys) NC_000001.11:241502559:G:T p.(Asn373Lys) NC_000001.11:241502559:G:T Identity +NM_000258.3:c.241C>T NP_000249.1:p.Arg81Trp NC_000003.12:46860741:G:A p.(Arg81Trp) NC_000003.12:46860741:G:A p.(Arg81Trp) NC_000003.12:46860741:G:A Identity +NM_001029883.3:c.3160C>T NP_001025054.1:p.Pro1054Ser NC_000002.12:29071101:G:A p.(Pro1054Ser) NC_000002.12:29071101:G:A p.(Pro1054Ser) NC_000002.12:29071101:G:A Identity +NM_001958.5:c.400C>T NP_001949.1:p.Arg134Trp NC_000020.11:63495025:G:A p.(Arg134Trp) NC_000020.11:63495025:G:A p.(Arg134Trp) NC_000020.11:63495025:G:A Identity +NM_001318360.2:c.1013A>C NP_001305289.1:p.Lys338Thr NC_000009.12:108911014:T:G p.(Lys338Thr) NC_000009.12:108911014:T:G p.(Lys338Thr) NC_000009.12:108911014:T:G Identity +NM_001135242.2:c.176T>C NP_001128714.1:p.Ile59Thr NC_000008.11:133264575:A:G p.(Ile59Thr) NC_000008.11:133264575:A:G p.(Ile59Thr) NC_000008.11:133264575:A:G Identity +NM_000222.3:c.1675G>T NP_000213.1:p.Val559Phe NC_000004.12:54727442:G:T p.(Val559Phe) NC_000004.12:54727442:G:T p.(Val559Phe) NC_000004.12:54727442:G:T Identity +NM_206933.4:c.14807C>A NP_996816.3:p.Ala4936Asp NC_000001.11:215640718:G:T p.(Ala4936Asp) NC_000001.11:215640718:G:T p.(Ala4936Asp) NC_000001.11:215640718:G:T Identity +NM_000244.4:c.1742A>C NP_000235.3:p.Lys581Thr NC_000011.10:64804439:T:G p.(Lys581Thr) NC_000011.10:64804439:T:G p.(Lys581Thr) NC_000011.10:64804439:T:G Identity +NM_000051.4:c.1432T>C NP_000042.3:p.Ser478Pro NC_000011.10:108250896:T:C p.(Ser478Pro) NC_000011.10:108250896:T:C p.(Ser478Pro) NC_000011.10:108250896:T:C Identity +NM_000028.3:c.235A>G NP_000019.2:p.Lys79Glu NC_000001.11:99861654:A:G p.(Lys79Glu) NC_000001.11:99861654:A:G p.(Lys79Glu) NC_000001.11:99861654:A:G Identity +NM_001367916.1:c.958A>G NP_001354845.1:p.Ile320Val NC_000023.11:77830838:T:C p.(Ile320Val) NC_000023.11:77830838:T:C p.(Ile320Val) NC_000023.11:77830838:T:C Identity +NM_014714.4:c.1322G>A NP_055529.2:p.Arg441His NC_000016.10:1584253:C:T p.(Arg441His) NC_000016.10:1584253:C:T p.(Arg441His) NC_000016.10:1584253:C:T Identity +NM_001166107.1:c.956A>G NP_001159579.1:p.Gln319Arg NC_000001.11:119755531:T:C p.(Gln319Arg) NC_000001.11:119755531:T:C p.(Gln319Arg) NC_000001.11:119755531:T:C Identity +NM_000076.2:c.440C>A NP_000067.1:p.Thr147Asn NC_000011.10:2885049:G:T p.(Thr147Asn) NC_000011.10:2885049:G:T p.(Thr147Asn) NC_000011.10:2885049:G:T Identity +NM_000171.4:c.22C>T NP_000162.2:p.Arg8Ter NC_000005.10:151924527:G:A p.(Arg8Ter) NC_000005.10:151924527:G:A p.(Arg8Ter) NC_000005.10:151924527:G:A Identity +NM_001257281.2:c.500A>G NP_001244210.1:p.Glu167Gly NC_000002.12:232087619:A:G p.(Glu167Gly) NC_000002.12:232087619:A:G p.(Glu167Gly) NC_000002.12:232087619:A:G Identity +NM_001136536.5:c.364G>C NP_001130008.2:p.Val122Leu NC_000004.12:36293540:G:C p.(Val122Leu) NC_000004.12:36293540:G:C p.(Val122Leu) NC_000004.12:36293540:G:C Identity +NM_001142800.2:c.3069C>G NP_001136272.1:p.Ile1023Met NC_000006.12:64822745:G:C p.(Ile1023Met) NC_000006.12:64822745:G:C p.(Ile1023Met) NC_000006.12:64822745:G:C Identity +NM_001134418.2:c.1501C>T NP_001127890.1:p.Gln501Ter NC_000003.12:189957994:G:A p.(Gln501Ter) NC_000003.12:189957994:G:A p.(Gln501Ter) NC_000003.12:189957994:G:A Identity +NM_000179.3:c.1067G>A NP_000170.1:p.Gly356Asp NC_000002.12:47799049:G:A p.(Gly356Asp) NC_000002.12:47799049:G:A p.(Gly356Asp) NC_000002.12:47799049:G:A Identity +NM_000271.5:c.1903_1906dup NP_000262.2:p.Ser636fs NC_000018.10:23545000:AAATA:AAATAAATA p.(Ser636TyrfsTer54) NC_000018.10:23545000:AAATA:AAATAAATA p.(Ser636TyrfsTer54) ERR:SPDI Analogous +NM_001127178.3:c.1573G>C NP_001120650.1:p.Val525Leu NC_000004.12:521899:G:C p.(Val525Leu) NC_000004.12:521899:G:C p.(Val525Leu) NC_000004.12:521899:G:C Identity +NM_001558.4:c.943G>A NP_001549.2:p.Gly315Ser NC_000011.10:117998846:G:A p.(Gly315Ser) NC_000011.10:117998846:G:A p.(Gly315Ser) NC_000011.10:117998846:G:A Identity +NM_001346897.2:c.2977C>G NP_001333826.1:p.Leu993Val NC_000007.14:55201352:C:G p.(Leu993Val) NC_000007.14:55201352:C:G p.(Leu993Val) NC_000007.14:55201352:C:G Identity +NM_032043.3:c.2720C>T NP_114432.2:p.Ser907Phe NC_000017.11:61686020:G:A p.(Ser907Phe) NC_000017.11:61686020:G:A p.(Ser907Phe) NC_000017.11:61686020:G:A Identity +NM_015102.5:c.1264G>C NP_055917.1:p.Val422Leu NC_000001.11:5933184:C:G p.(Val422Leu) NC_000001.11:5933184:C:G p.(Val422Leu) NC_000001.11:5933184:C:G Identity +NM_014365.3:c.311G>A NP_055180.1:p.Ser104Asn NC_000012.12:119179622:G:A p.(Ser104Asn) NC_000012.12:119179622:G:A p.(Ser104Asn) NC_000012.12:119179622:G:A Identity +NM_003373.4:c.1792G>C NP_003364.1:p.Val598Leu NC_000010.11:74097251:G:C p.(Val598Leu) NC_000010.11:74097251:G:C p.(Val598Leu) NC_000010.11:74097251:G:C Identity +NM_020451.3:c.643del NP_065184.2:p.Gln215fs NC_000001.11:25808683:CC:C p.(Gln215ArgfsTer14) NC_000001.11:25808683:CC:C p.? NC_000001.11:25808684:C: Analogous +NM_005477.3:c.1600G>A NP_005468.1:p.Val534Met NC_000015.10:73325434:C:T p.(Val534Met) NC_000015.10:73325434:C:T p.(Val534Met) NC_000015.10:73325434:C:T Identity +NM_001369369.1:c.161A>G NP_001356298.1:p.Asp54Gly NC_000017.11:28524539:A:G p.(Asp54Gly) NC_000017.11:28524539:A:G p.(Asp54Gly) NC_000017.11:28524539:A:G Identity +NM_000118.4:c.673delC NP_000109.1:p.Pro225Argfs NC_000009.12:127825709:GG:G p.(Pro225ArgfsTer10) NC_000009.12:127825709:GG:G p.(Pro225ArgfsTer10) NC_000009.12:127825710:G: Analogous +NM_017890.5:c.5034del NP_060360.3:p.His1679fs NC_000008.11:99575665:GG:G p.(His1679IlefsTer8) NC_000008.11:99575665:GG:G p.(His1679IlefsTer8) NC_000008.11:99575666:G: Analogous +NM_000748.3:c.1375G>A NP_000739.1:p.Asp459Asn NC_000001.11:154575797:G:A p.(Asp459Asn) NC_000001.11:154575797:G:A p.(Asp459Asn) NC_000001.11:154575797:G:A Identity +NM_000719.7:c.5714A>G NP_000710.5:p.Lys1905Arg NC_000012.12:2686198:A:G p.(Lys1905Arg) NC_000012.12:2686198:A:G p.(Lys1905Arg) NC_000012.12:2686198:A:G Identity +NM_012193.4:c.1057G>C NP_036325.2:p.Ala353Pro NC_000011.10:86951698:C:G p.(Ala353Pro) NC_000011.10:86951698:C:G p.(Ala353Pro) NC_000011.10:86951698:C:G Identity +NM_000546.6:c.794T>A NP_000537.3:p.Leu265Gln NC_000017.11:7673825:A:T p.(Leu265Gln) NC_000017.11:7673825:A:T p.(Leu265Gln) NC_000017.11:7673825:A:T Identity +NM_000059.4:c.9445A>C NP_000050.3:p.Ser3149Arg NC_000013.11:32394876:A:C p.(Ser3149Arg) NC_000013.11:32394876:A:C p.(Ser3149Arg) NC_000013.11:32394876:A:C Identity +NM_001378444.1:c.1520A>G NP_001365373.1:p.Glu507Gly NC_000002.12:230177625:T:C p.(Glu507Gly) NC_000002.12:230177625:T:C p.(Glu507Gly) NC_000002.12:230177625:T:C Identity +NM_030930.4:c.226G>A NP_112192.2:p.Gly76Ser NC_000011.10:68003668:C:T p.(Gly76Ser) NC_000011.10:68003668:C:T p.(Gly76Ser) NC_000011.10:68003668:C:T Identity +NM_000260.4:c.1771C>T NP_000251.3:p.Gln591Ter NC_000011.10:77166135:C:T p.(Gln591Ter) NC_000011.10:77166135:C:T p.(Gln591Ter) NC_000011.10:77166135:C:T Identity +NM_004260.4:c.2405_2409dup NP_004251.4:p.Arg804fs NC_000008.11:144513271:GCCCA:GCCCAGCCCA p.(Arg804TrpfsTer41) NC_000008.11:144513271:GCCCA:GCCCAGCCCA p.(Arg804TrpfsTer41) ERR:SPDI Analogous +NM_002335.4:c.1300G>A NP_002326.2:p.Asp434Asn NC_000011.10:68386599:G:A p.(Asp434Asn) NC_000011.10:68386599:G:A p.(Asp434Asn) NC_000011.10:68386599:G:A Identity +NM_014003.4:c.2823_2830del NP_054722.2:p.Thr942fs NC_000016.10:72107656:CTACCGGGC:C p.(Thr942AlafsTer20) NC_000016.10:72107656:CTACCGGGC:C p.(Thr942AlafsTer20) NC_000016.10:72107657:TACCGGGC: Analogous +NM_001407571.1:c.1632_1633del NP_001394500.1:p.Ser545fs NC_000017.11:43093684:AA: p.(Ser545TyrfsTer8) NC_000017.11:43093684:AA: p.(Ser545TyrfsTer8) NC_000017.11:43093684:AA: Analogous +NM_001283009.2:c.1294C>T NP_001269938.1:p.Arg432Trp NC_000020.11:63685817:C:T p.(Arg432Trp) NC_000020.11:63685817:C:T p.(Arg432Trp) NC_000020.11:63685817:C:T Identity +NM_138694.4:c.5885T>G NP_619639.3:p.Ile1962Ser NC_000006.12:51959892:A:C p.(Ile1962Ser) NC_000006.12:51959892:A:C p.(Ile1962Ser) NC_000006.12:51959892:A:C Identity +NM_000214.3:c.2990C>G NP_000205.1:p.Ser997Ter NC_000020.11:10641170:G:C p.(Ser997Ter) NC_000020.11:10641170:G:C p.(Ser997Ter) NC_000020.11:10641170:G:C Identity +NM_002900.3:c.779G>A NP_002891.1:p.Gly260Glu NC_000010.11:47349262:G:A p.(Gly260Glu) NC_000010.11:47349262:G:A p.(Gly260Glu) NC_000010.11:47349262:G:A Identity +NM_000027.4:c.390G>C NP_000018.2:p.Glu130Asp NC_000004.12:177439579:C:G p.(Glu130Asp) NC_000004.12:177439579:C:G p.(Glu130Asp) NC_000004.12:177439579:C:G Identity +NM_001099922.3:c.3347A>G NP_001093392.1:p.Asn1116Ser NC_000023.11:111759931:A:G p.(Asn1116Ser) NC_000023.11:111759931:A:G p.(Asn1116Ser) NC_000023.11:111759931:A:G Identity +NM_000747.3:c.61G>A NP_000738.2:p.Val21Ile NC_000017.11:7445271:G:A p.(Val21Ile) NC_000017.11:7445271:G:A p.(Val21Ile) NC_000017.11:7445271:G:A Identity +NM_001290553.2:c.127G>A NP_001277482.1:p.Ala43Thr NC_000001.11:202950943:C:T p.(Ala43Thr) NC_000001.11:202950943:C:T p.(Ala43Thr) NC_000001.11:202950943:C:T Identity +NM_000376.3:c.257A>G NP_000367.1:p.Asp86Gly NC_000012.12:47865066:T:C p.(Asp86Gly) NC_000012.12:47865066:T:C p.(Asp86Gly) NC_000012.12:47865066:T:C Identity +NM_001177984.3:c.3129C>G NP_001171455.1:p.Asn1043Lys NC_000012.12:51769091:C:G p.(Asn1043Lys) NC_000012.12:51769091:C:G p.(Asn1043Lys) NC_000012.12:51769091:C:G Identity +NM_000444.6:c.1853T>G NP_000435.3:p.Met618Arg NC_000023.11:22221696:T:G p.(Met618Arg) NC_000023.11:22221696:T:G p.(Met618Arg) NC_000023.11:22221696:T:G Identity +NM_000548.5:c.1764G>C NP_000539.2:p.Glu588Asp NC_000016.10:2070502:G:C p.(Glu588Asp) NC_000016.10:2070502:G:C p.(Glu588Asp) NC_000016.10:2070502:G:C Identity +NM_000388.4:c.1999TTC[1] NP_000379.3:p.Phe668del NC_000003.12:122283952:TTCTTC:TTC p.(Phe668del) NC_000003.12:122283952:T:TTC ERR:Parse ERR:Parse Identity +NM_001037811.2:c.488T>C NP_001032900.1:p.Val163Ala NC_000023.11:53431904:A:G p.(Val163Ala) NC_000023.11:53431904:A:G p.(Val163Ala) NC_000023.11:53431904:A:G Identity +NM_001282424.3:c.1135A>G NP_001269353.2:p.Ile379Val NC_000012.12:8854144:A:G p.(Ile379Val) NC_000012.12:8854144:A:G p.(Ile379Val) NC_000012.12:8854144:A:G Identity +NM_001164673.2:c.678G>A NP_001158145.1:p.Ala226= NC_000004.12:3489712:G:A p.(Ala226=) NC_000004.12:3489712:G:A p.(Ala226=) NC_000004.12:3489712:G:A Identity +NM_000093.5:c.2726G>A NP_000084.3:p.Arg909Gln NC_000009.12:134795106:G:A p.(Arg909Gln) NC_000009.12:134795106:G:A p.(Arg909Gln) NC_000009.12:134795106:G:A Identity +NM_003824.4:c.248A>G NP_003815.1:p.Glu83Gly NC_000011.10:70203706:A:G p.(Glu83Gly) NC_000011.10:70203706:A:G p.(Glu83Gly) NC_000011.10:70203706:A:G Identity +NM_002838.5:c.3400C>G NP_002829.3:p.Pro1134Ala NC_000001.11:198752662:C:G p.(Pro1134Ala) NC_000001.11:198752662:C:G p.(Pro1134Ala) NC_000001.11:198752662:C:G Identity +NM_001077269.1:c.811G>A NP_001070737.1:p.Val271Met NC_000002.12:174571993:C:T p.(Val271Met) NC_000002.12:174571993:C:T p.(Val271Met) NC_000002.12:174571993:C:T Identity +NM_001018113.3:c.508A>G NP_001018123.1:p.Ile170Val NC_000023.11:14865002:T:C p.(Ile170Val) NC_000023.11:14865002:T:C p.(Ile170Val) NC_000023.11:14865002:T:C Identity +NM_004304.5:c.2217C>A NP_004295.2:p.Tyr739Ter NC_000002.12:29239817:G:T p.(Tyr739Ter) NC_000002.12:29239817:G:T p.(Tyr739Ter) NC_000002.12:29239817:G:T Identity +NM_001286130.2:c.2314C>T NP_001273059.1:p.Arg772Cys NC_000016.10:57912966:G:A p.(Arg772Cys) NC_000016.10:57912966:G:A p.(Arg772Cys) NC_000016.10:57912966:G:A Identity +NM_001271933.2:c.2528G>A NP_001258862.1:p.Arg843His NC_000011.10:117393028:G:A p.(Arg843His) NC_000011.10:117393028:G:A p.(Arg843His) NC_000011.10:117393028:G:A Identity +NM_032119.4:c.1048_1049dup NP_115495.3:p.Ile351fs NC_000005.10:90627583:ACAC:ACACAC p.(Ile351ProfsTer14) NC_000005.10:90627583:ACAC:ACACAC p.(Ile351ProfsTer14) ERR:SPDI Analogous +NM_001190458.2:c.2732G>A NP_001177387.1:p.Arg911His NC_000009.12:396845:G:A p.(Arg911His) NC_000009.12:396845:G:A p.(Arg911His) NC_000009.12:396845:G:A Identity +NM_001024688.3:c.1270C>T NP_001019859.1:p.Gln424Ter NC_000008.11:89953572:G:A p.(Gln424Ter) NC_000008.11:89953572:G:A p.(Gln424Ter) NC_000008.11:89953572:G:A Identity +NM_001099403.2:c.740C>G NP_001092873.1:p.Ser247Cys NC_000004.12:80202201:C:G p.(Ser247Cys) NC_000004.12:80202201:C:G p.(Ser247Cys) NC_000004.12:80202201:C:G Identity +NM_001291902.2:c.1483G>A NP_001278831.1:p.Ala495Thr NC_000011.10:68423686:G:A p.(Ala495Thr) NC_000011.10:68423686:G:A p.(Ala495Thr) NC_000011.10:68423686:G:A Identity +NM_006231.4:c.3277G>T NP_006222.2:p.Ala1093Ser NC_000012.12:132657968:C:A p.(Ala1093Ser) NC_000012.12:132657968:C:A p.(Ala1093Ser) NC_000012.12:132657968:C:A Identity +NM_001282708.1:c.629G>A NP_001269637.1:p.Arg210Gln NC_000009.12:130703086:G:A p.(Arg210Gln) NC_000009.12:130703086:G:A p.(Arg210Gln) NC_000009.12:130703086:G:A Identity +NM_000191.3:c.409A>G NP_000182.2:p.Lys137Glu NC_000001.11:23814277:T:C p.(Lys137Glu) NC_000001.11:23814277:T:C p.(Lys137Glu) NC_000001.11:23814277:T:C Identity +NM_002876.4:c.139A>G NP_002867.1:p.Ser47Gly NC_000017.11:58692781:A:G p.(Ser47Gly) NC_000017.11:58692781:A:G p.(Ser47Gly) NC_000017.11:58692781:A:G Identity +NM_000257.4:c.2631G>A NP_000248.2:p.Met877Ile NC_000014.9:23424816:C:T p.(Met877Ile) NC_000014.9:23424816:C:T p.(Met877Ile) NC_000014.9:23424816:C:T Identity +NM_000026.4:c.370C>A NP_000017.1:p.Leu124Ile NC_000022.11:40353084:C:A p.(Leu124Ile) NC_000022.11:40353084:C:A p.(Leu124Ile) NC_000022.11:40353084:C:A Identity +NM_001301738.2:c.589C>T NP_001288667.1:p.Arg197Trp NC_000005.10:139478439:G:A p.(Arg197Trp) NC_000005.10:139478439:G:A p.(Arg197Trp) NC_000005.10:139478439:G:A Identity +NM_021831.6:c.2458C>G NP_068603.4:p.Leu820Val NC_000002.12:27069674:C:G p.(Leu820Val) NC_000002.12:27069674:C:G p.(Leu820Val) NC_000002.12:27069674:C:G Identity +NM_001006658.3:c.3097G>C NP_001006659.1:p.Ala1033Pro NC_000001.11:207479264:G:C p.(Ala1033Pro) NC_000001.11:207479264:G:C p.(Ala1033Pro) NC_000001.11:207479264:G:C Identity +NM_000448.3:c.1630C>A NP_000439.2:p.Leu544Ile NC_000011.10:36574933:C:A p.(Leu544Ile) NC_000011.10:36574933:C:A p.(Leu544Ile) NC_000011.10:36574933:C:A Identity +NM_001288951.2:c.1600G>A NP_001275880.1:p.Val534Ile NC_000002.12:47024317:G:A p.(Val534Ile) NC_000002.12:47024317:G:A p.(Val534Ile) NC_000002.12:47024317:G:A Identity +NM_004260.4:c.1187_1188del NP_004251.4:p.Thr396fs NC_000008.11:144515833:TGTG:TG p.(Thr396SerfsTer26) NC_000008.11:144515833:TGTG:TG p.(Thr396SerfsTer26) NC_000008.11:144515833:TG: Analogous +NM_001458.5:c.5272C>G NP_001449.3:p.Arg1758Gly NC_000007.14:128850047:C:G p.(Arg1758Gly) NC_000007.14:128850047:C:G p.(Arg1758Gly) NC_000007.14:128850047:C:G Identity +NM_001171653.2:c.199A>C NP_001165124.1:p.Asn67His NC_000002.12:144429900:T:G p.(Asn67His) NC_000002.12:144429900:T:G p.(Asn67His) NC_000002.12:144429900:T:G Identity +NM_145290.4:c.2926A>G NP_660333.2:p.Met976Val NC_000004.12:22388744:T:C p.(Met976Val) NC_000004.12:22388744:T:C p.(Met976Val) NC_000004.12:22388744:T:C Identity +NM_001271999.2:c.874G>A NP_001258928.1:p.Glu292Lys NC_000001.11:62636547:C:T p.(Glu292Lys) NC_000001.11:62636547:C:T p.(Glu292Lys) NC_000001.11:62636547:C:T Identity +NM_024675.4:c.1227T>A NP_078951.2:p.Tyr409Ter NC_000016.10:23635318:A:T p.(Tyr409Ter) NC_000016.10:23635318:A:T p.(Tyr409Ter) NC_000016.10:23635318:A:T Identity +NM_001256849.1:c.1150T>A NP_001243778.1:p.Phe384Ile NC_000019.10:50403504:T:A p.(Phe384Ile) NC_000019.10:50403504:T:A p.(Phe384Ile) NC_000019.10:50403504:T:A Identity +NM_012281.3:c.704C>T NP_036413.1:p.Ala235Val NC_000007.14:120275335:C:T p.(Ala235Val) NC_000007.14:120275335:C:T p.(Ala235Val) NC_000007.14:120275335:C:T Identity +NM_000135.4:c.493T>A NP_000126.2:p.Ser165Thr NC_000016.10:89810735:A:T p.(Ser165Thr) NC_000016.10:89810735:A:T p.(Ser165Thr) NC_000016.10:89810735:A:T Identity +NM_001165963.4:c.602C>T NP_001159435.1:p.Ala201Val NC_000002.12:166054637:G:A p.(Ala201Val) NC_000002.12:166054637:G:A p.(Ala201Val) NC_000002.12:166054637:G:A Identity +NM_001288739.2:c.2537G>C NP_001275668.1:p.Arg846Pro NC_000009.12:128254655:G:C p.(Arg846Pro) NC_000009.12:128254655:G:C p.(Arg846Pro) NC_000009.12:128254655:G:C Identity +NM_000368.5:c.2272C>A NP_000359.1:p.Gln758Lys NC_000009.12:132902723:G:T p.(Gln758Lys) NC_000009.12:132902723:G:T p.(Gln758Lys) NC_000009.12:132902723:G:T Identity +NM_000051.4:c.2141C>G NP_000042.3:p.Thr714Ser NC_000011.10:108256230:C:G p.(Thr714Ser) NC_000011.10:108256230:C:G p.(Thr714Ser) NC_000011.10:108256230:C:G Identity +NM_004204.5:c.638_639delinsTT NP_004195.2:p.Cys213Phe NC_000016.10:574711:GC:TT p.(Cys213Phe) NC_000016.10:574711:GC:TT p.(Cys213Phe) NC_000016.10:574711:GC:TT Identity +NM_015295.3:c.5782A>G NP_056110.2:p.Ser1928Gly NC_000018.10:2796010:A:G p.(Ser1928Gly) NC_000018.10:2796010:A:G p.(Ser1928Gly) NC_000018.10:2796010:A:G Identity +NM_001164097.2:c.3815_3817del NP_001157569.1:p.Gly1272del NC_000005.10:83539776:AGGAG:AG p.(Gly1272del) NC_000005.10:83539776:AGGAG:AG p.(Gly1272del) NC_000005.10:83539778:GAG: Identity +NM_001365536.1:c.4040T>C NP_001352465.1:p.Phe1347Ser NC_000002.12:166228856:A:G p.(Phe1347Ser) NC_000002.12:166228856:A:G p.(Phe1347Ser) NC_000002.12:166228856:A:G Identity +NM_000180.4:c.2576C>T NP_000171.1:p.Pro859Leu NC_000017.11:8014763:C:T p.(Pro859Leu) NC_000017.11:8014763:C:T p.(Pro859Leu) NC_000017.11:8014763:C:T Identity +NM_152384.3:c.303dup NP_689597.1:p.Asn102Ter NC_000002.12:169488030:T:TT p.(Asn102Ter) NC_000002.12:169488030:T:TT p.(Asn102Ter) ERR:SPDI Identity +NM_001286130.2:c.1922G>A NP_001273059.1:p.Ser641Asn NC_000016.10:57919115:C:T p.(Ser641Asn) NC_000016.10:57919115:C:T p.(Ser641Asn) NC_000016.10:57919115:C:T Identity +NM_001365951.3:c.3760G>A NP_001352880.1:p.Val1254Ile NC_000001.11:10345915:G:A p.(Val1254Ile) NC_000001.11:10345915:G:A p.(Val1254Ile) NC_000001.11:10345915:G:A Identity +NM_000553.6:c.2150G>A NP_000544.2:p.Cys717Tyr NC_000008.11:31111675:G:A p.(Cys717Tyr) NC_000008.11:31111675:G:A p.(Cys717Tyr) NC_000008.11:31111675:G:A Identity +NM_000143.4:c.905G>A NP_000134.2:p.Gly302Asp NC_000001.11:241504244:C:T p.(Gly302Asp) NC_000001.11:241504244:C:T p.(Gly302Asp) NC_000001.11:241504244:C:T Identity +NM_001164665.2:c.5412G>A NP_001158137.1:p.Met1804Ile NC_000007.14:138844356:C:T p.(Met1804Ile) NC_000007.14:138844356:C:T p.(Met1804Ile) NC_000007.14:138844356:C:T Identity +NM_021620.4:c.847G>C NP_067633.2:p.Gly283Arg NC_000006.12:99613481:G:C p.(Gly283Arg) NC_000006.12:99613481:G:C p.(Gly283Arg) NC_000006.12:99613481:G:C Identity +NM_001144996.2:c.446G>A NP_001138468.1:p.Arg149Gln NC_000012.12:55701122:C:T p.(Arg149Gln) NC_000012.12:55701122:C:T p.(Arg149Gln) NC_000012.12:55701122:C:T Identity +NM_001369.3:c.5171C>T NP_001360.1:p.Ala1724Val NC_000005.10:13844936:G:A p.(Ala1724Val) NC_000005.10:13844936:G:A p.(Ala1724Val) NC_000005.10:13844936:G:A Identity +NM_001190787.3:c.8C>A NP_001177716.1:p.Ala3Glu NC_000005.10:55227130:G:T p.(Ala3Glu) NC_000005.10:55227130:G:T p.(Ala3Glu) NC_000005.10:55227130:G:T Identity +NM_000124.4:c.3661C>T NP_000115.1:p.Arg1221Ter NC_000010.11:49470298:G:A p.(Arg1221Ter) NC_000010.11:49470298:G:A p.(Arg1221Ter) NC_000010.11:49470298:G:A Identity +NM_000020.3:c.336del NP_000011.2:p.Gln112fs NC_000012.12:51913580:G: p.(Gln112HisfsTer10) NC_000012.12:51913580:G: p.(Gln112HisfsTer10) NC_000012.12:51913580:G: Analogous +NM_001003694.2:c.713G>A NP_001003694.1:p.Ser238Asn NC_000003.12:9739111:G:A p.(Ser238Asn) NC_000003.12:9739111:G:A p.(Ser238Asn) NC_000003.12:9739111:G:A Identity +NM_000843.4:c.2233G>A NP_000834.2:p.Asp745Asn NC_000005.10:178983112:C:T p.(Asp745Asn) NC_000005.10:178983112:C:T p.(Asp745Asn) NC_000005.10:178983112:C:T Identity +NM_000030.3:c.70C>A NP_000021.1:p.Leu24Ile NC_000002.12:240868934:C:A p.(Leu24Ile) NC_000002.12:240868934:C:A p.(Leu24Ile) NC_000002.12:240868934:C:A Identity +NM_000843.4:c.1118del NP_000834.2:p.Gly373fs NC_000005.10:178989299:CC:C p.(Gly373ValfsTer32) NC_000005.10:178989299:CC:C p.(Gly373ValfsTer32) NC_000005.10:178989299:C: Analogous +NM_000350.3:c.4859A>T NP_000341.2:p.Asn1620Ile NC_000001.11:94021398:T:A p.(Asn1620Ile) NC_000001.11:94021398:T:A p.(Asn1620Ile) NC_000001.11:94021398:T:A Identity +NM_000553.6:c.4223C>T NP_000544.2:p.Pro1408Leu NC_000008.11:31173025:C:T p.(Pro1408Leu) NC_000008.11:31173025:C:T p.(Pro1408Leu) NC_000008.11:31173025:C:T Identity +NM_000321.3:c.1976A>G NP_000312.2:p.Tyr659Cys NC_000013.11:48459702:A:G p.(Tyr659Cys) NC_000013.11:48459702:A:G p.(Tyr659Cys) NC_000013.11:48459702:A:G Identity +NM_007129.5:c.983C>T NP_009060.2:p.Thr328Ile NC_000013.11:99983046:C:T p.(Thr328Ile) NC_000013.11:99983046:C:T p.(Thr328Ile) NC_000013.11:99983046:C:T Identity +NM_000136.3:c.1440dup NP_000127.2:p.Ala481fs NC_000009.12:95107158:T:TT p.(Ala481SerfsTer37) NC_000009.12:95107158:T:TT p.(Ala481SerfsTer37) ERR:SPDI Analogous +NM_003816.3:c.1270G>A NP_003807.1:p.Ala424Thr NC_000008.11:39042084:G:A p.(Ala424Thr) NC_000008.11:39042084:G:A p.(Ala424Thr) NC_000008.11:39042084:G:A Identity +NM_001302884.2:c.2719A>G NP_001289813.1:p.Ile907Val NC_000009.12:97487196:A:G p.(Ile907Val) NC_000009.12:97487196:A:G p.(Ile907Val) NC_000009.12:97487196:A:G Identity +NM_001040108.2:c.2752G>T NP_001035197.1:p.Asp918Tyr NC_000014.9:75046903:C:A p.(Asp918Tyr) NC_000014.9:75046903:C:A p.(Asp918Tyr) NC_000014.9:75046903:C:A Identity +NM_000465.4:c.88G>T NP_000456.2:p.Gly30Cys NC_000002.12:214809481:C:A p.(Gly30Cys) NC_000002.12:214809481:C:A p.(Gly30Cys) NC_000002.12:214809481:C:A Identity +NM_001271999.2:c.4849T>C NP_001258928.1:p.Tyr1617His NC_000001.11:62496385:A:G p.(Tyr1617His) NC_000001.11:62496385:A:G p.(Tyr1617His) NC_000001.11:62496385:A:G Identity +NM_001127396.3:c.649G>A NP_001120868.1:p.Gly217Ser NC_000019.10:7642112:G:A p.(Gly217Ser) NC_000019.10:7642112:G:A p.(Gly217Ser) NC_000019.10:7642112:G:A Identity +NM_000038.6:c.7829G>C NP_000029.2:p.Gly2610Ala NC_000005.10:112843422:G:C p.(Gly2610Ala) NC_000005.10:112843422:G:C p.(Gly2610Ala) NC_000005.10:112843422:G:C Identity +NM_001244008.2:c.5269G>A NP_001230937.1:p.Ala1757Thr NC_000002.12:240718113:C:T p.(Ala1757Thr) NC_000002.12:240718113:C:T p.(Ala1757Thr) NC_000002.12:240718113:C:T Identity +NM_001008844.3:c.2893C>G NP_001008844.1:p.Leu965Val NC_000006.12:7577793:C:G p.(Leu965Val) NC_000006.12:7577793:C:G p.(Leu965Val) NC_000006.12:7577793:C:G Identity +NM_001347828.2:c.3175C>G NP_001334757.1:p.Leu1059Val NC_000004.12:54290531:C:G p.(Leu1059Val) NC_000004.12:54290531:C:G p.(Leu1059Val) NC_000004.12:54290531:C:G Identity +NM_016247.4:c.3304A>G NP_057331.2:p.Ile1102Val NC_000003.12:101231074:T:C p.(Ile1102Val) NC_000003.12:101231074:T:C p.(Ile1102Val) NC_000003.12:101231074:T:C Identity +NM_000199.5:c.440A>G NP_000190.1:p.Gln147Arg NC_000017.11:80214680:T:C p.(Gln147Arg) NC_000017.11:80214680:T:C p.(Gln147Arg) NC_000017.11:80214680:T:C Identity +NM_001297571.2:c.629G>A NP_001284500.1:p.Trp210Ter NC_000012.12:6843910:G:A p.(Trp210Ter) NC_000012.12:6843910:G:A p.(Trp210Ter) NC_000012.12:6843910:G:A Identity +NM_000323.2:c.1888T>G NP_000314.1:p.Cys630Gly NC_000010.11:43114487:T:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000199.5:c.1419G>C NP_000190.1:p.Trp473Cys NC_000017.11:80210541:C:G p.(Trp473Cys) NC_000017.11:80210541:C:G p.(Trp473Cys) NC_000017.11:80210541:C:G Identity +NM_000038.6:c.6197G>A NP_000029.2:p.Arg2066Lys NC_000005.10:112841790:G:A p.(Arg2066Lys) NC_000005.10:112841790:G:A p.(Arg2066Lys) NC_000005.10:112841790:G:A Identity +NM_000378.6:c.897del NP_000369.4:p.Leu299fs NC_000011.10:32417644:T: p.(Leu299PhefsTer4) NC_000011.10:32417644:T: p.(Leu299PhefsTer4) NC_000011.10:32417644:T: Analogous +NM_001005407.2:c.5806G>T NP_001005407.1:p.Ala1936Ser NC_000016.10:1218587:G:T p.(Ala1936Ser) NC_000016.10:1218587:G:T p.(Ala1936Ser) NC_000016.10:1218587:G:T Identity +NM_000322.5:c.468C>G NP_000313.2:p.Ile156Met NC_000006.12:42721866:G:C p.(Ile156Met) NC_000006.12:42721866:G:C p.(Ile156Met) NC_000006.12:42721866:G:C Identity +NM_004519.4:c.173G>A NP_004510.1:p.Gly58Glu NC_000008.11:132480359:C:T p.(Gly58Glu) NC_000008.11:132480359:C:T p.(Gly58Glu) NC_000008.11:132480359:C:T Identity +NM_002439.5:c.2615G>C NP_002430.3:p.Gly872Ala NC_000005.10:80792803:G:C p.(Gly872Ala) NC_000005.10:80792803:G:C p.(Gly872Ala) NC_000005.10:80792803:G:C Identity +NM_014141.6:c.566A>C NP_054860.1:p.Asn189Thr NC_000007.14:147108161:A:C p.(Asn189Thr) NC_000007.14:147108161:A:C p.(Asn189Thr) NC_000007.14:147108161:A:C Identity +NM_001347827.2:c.945T>G NP_001334756.1:p.Ile315Met NC_000004.12:54267564:T:G p.(Ile315Met) NC_000004.12:54267564:T:G p.(Ile315Met) NC_000004.12:54267564:T:G Identity +NM_001172509.2:c.1329_1347dup NP_001165980.1:p.Ser450fs NC_000002.12:199328736:GGAGACCATGCTCACATTGGGA:GGAGACCATGCTCACATTGGGAGACCATGCTCACATTGGGA p.(Ser450GlnfsTer32) NC_000002.12:199328736:GGAGACCATGCTCACATTGGGA:GGAGACCATGCTCACATTGGGAGACCATGCTCACATTGGGA p.(Ser450GlnfsTer32) ERR:SPDI Analogous +NM_001039885.3:c.315G>T NP_001034974.1:p.Gln105His NC_000019.10:46755764:G:T p.(Gln105His) NC_000019.10:46755764:G:T p.(Gln105His) NC_000019.10:46755764:G:T Identity +NM_001081640.2:c.9943T>C NP_001075109.1:p.Tyr3315His NC_000008.11:47800965:A:G p.(Tyr3315His) NC_000008.11:47800965:A:G p.(Tyr3315His) NC_000008.11:47800965:A:G Identity +NM_201550.4:c.276G>C NP_963844.2:p.Gln92His NC_000012.12:69610562:C:G p.(Gln92His) NC_000012.12:69610562:C:G p.(Gln92His) NC_000012.12:69610562:C:G Identity +NM_005477.3:c.409G>A NP_005468.1:p.Ala137Thr NC_000015.10:73367861:C:T p.(Ala137Thr) NC_000015.10:73367861:C:T p.(Ala137Thr) NC_000015.10:73367861:C:T Identity +NM_000399.5:c.601G>T NP_000390.2:p.Ala201Ser NC_000010.11:62814036:C:A p.(Ala201Ser) NC_000010.11:62814036:C:A p.(Ala201Ser) NC_000010.11:62814036:C:A Identity +NM_001160227.2:c.6936T>G NP_001153699.1:p.Asn2312Lys NC_000015.10:44563177:A:C p.(Asn2312Lys) NC_000015.10:44563177:A:C p.(Asn2312Lys) NC_000015.10:44563177:A:C Identity +NM_030793.5:c.2341C>A NP_110420.3:p.Pro781Thr NC_000005.10:148427634:C:A p.(Pro781Thr) NC_000005.10:148427634:C:A p.(Pro781Thr) NC_000005.10:148427634:C:A Identity +NM_004064.5:c.275C>T NP_004055.1:p.Pro92Leu NC_000012.12:12718113:C:T p.(Pro92Leu) NC_000012.12:12718113:C:T p.(Pro92Leu) NC_000012.12:12718113:C:T Identity +NM_001127897.4:c.3130A>C NP_001121369.1:p.Met1044Leu NC_000016.10:53636500:T:G p.(Met1044Leu) NC_000016.10:53636500:T:G p.(Met1044Leu) NC_000016.10:53636500:T:G Identity +NM_001256789.3:c.5863G>A NP_001243718.1:p.Asp1955Asn NC_000023.11:49205174:C:T p.(Asp1955Asn) NC_000023.11:49205174:C:T p.(Asp1955Asn) NC_000023.11:49205174:C:T Identity +NM_001126336.3:c.772C>T NP_001119808.1:p.Pro258Ser NC_000005.10:83512125:C:T p.(Pro258Ser) NC_000005.10:83512125:C:T p.(Pro258Ser) NC_000005.10:83512125:C:T Identity +NM_001384466.1:c.1936C>T NP_001371395.1:p.Leu646Phe NC_000011.10:64118202:C:T p.(Leu646Phe) NC_000011.10:64118202:C:T p.(Leu646Phe) NC_000011.10:64118202:C:T Identity +NM_001127649.3:c.506T>C NP_001121121.1:p.Leu169Pro NC_000022.11:18083570:T:C p.(Leu169Pro) NC_000022.11:18083570:T:C p.(Leu169Pro) NC_000022.11:18083570:T:C Identity +NM_000445.5:c.8791G>A NP_000436.2:p.Val2931Ile NC_000008.11:143921110:C:T p.(Val2931Ile) NC_000008.11:143921110:C:T p.(Val2931Ile) NC_000008.11:143921110:C:T Identity +NM_001036.6:c.4017T>G NP_001027.3:p.Asp1339Glu NC_000015.10:33649109:T:G p.(Asp1339Glu) NC_000015.10:33649109:T:G p.(Asp1339Glu) NC_000015.10:33649109:T:G Identity +NM_001144964.1:c.1328C>A NP_001138436.1:p.Thr443Lys NC_000018.10:58351027:C:A p.(Thr443Lys) NC_000018.10:58351027:C:A p.(Thr443Lys) NC_000018.10:58351027:C:A Identity +NM_001143838.3:c.802G>A NP_001137310.1:p.Ala268Thr NC_000017.11:6701040:C:T p.(Ala268Thr) NC_000017.11:6701040:C:T p.(Ala268Thr) NC_000017.11:6701040:C:T Identity +NM_001291997.2:c.771_780del NP_001278926.1:p.Leu258fs NC_000016.10:79211654:GGAGGGTCTGGGAGGG:GGAGGG p.(Leu258CysfsTer31) NC_000016.10:79211654:GGAGGGTCTGGGAGGG:GGAGGG p.(Leu258CysfsTer31) NC_000016.10:79211660:TCTGGGAGGG: Analogous +NM_024642.5:c.461G>A NP_078918.3:p.Arg154Gln NC_000009.12:98823344:G:A p.(Arg154Gln) NC_000009.12:98823344:G:A p.(Arg154Gln) NC_000009.12:98823344:G:A Identity +NM_000136.3:c.1471CTC[1] NP_000127.2:p.Leu492del NC_000009.12:95107122:GAGGAG:GAG p.(Leu492del) NC_000009.12:95107127:G:GAG ERR:Parse ERR:Parse Identity +NM_019098.5:c.2419G>T NP_061971.3:p.Ala807Ser NC_000008.11:86575814:C:A p.(Ala807Ser) NC_000008.11:86575814:C:A p.(Ala807Ser) NC_000008.11:86575814:C:A Identity +NM_025099.6:c.2524C>T NP_079375.3:p.Pro842Ser NC_000017.11:8231420:G:A p.(Pro842Ser) NC_000017.11:8231420:G:A p.(Pro842Ser) NC_000017.11:8231420:G:A Identity +NM_001099922.3:c.664A>G NP_001093392.1:p.Met222Val NC_000023.11:111708306:A:G p.(Met222Val) NC_000023.11:111708306:A:G p.(Met222Val) NC_000023.11:111708306:A:G Identity +NM_000059.4:c.9545A>T NP_000050.3:p.His3182Leu NC_000013.11:32396940:A:T p.(His3182Leu) NC_000013.11:32396940:A:T p.(His3182Leu) NC_000013.11:32396940:A:T Identity +NM_000268.4:c.647T>C NP_000259.1:p.Met216Thr NC_000022.11:29658235:T:C p.(Met216Thr) NC_000022.11:29658235:T:C p.(Met216Thr) NC_000022.11:29658235:T:C Identity +NM_001972.4:c.118G>A NP_001963.1:p.Ala40Thr NC_000019.10:852925:G:A p.(Ala40Thr) NC_000019.10:852925:G:A p.(Ala40Thr) NC_000019.10:852925:G:A Identity +NM_024675.4:c.731G>C NP_078951.2:p.Arg244Thr NC_000016.10:23635814:C:G p.(Arg244Thr) NC_000016.10:23635814:C:G p.(Arg244Thr) NC_000016.10:23635814:C:G Identity +NM_001365536.1:c.472A>T NP_001352465.1:p.Thr158Ser NC_000002.12:166305915:T:A p.(Thr158Ser) NC_000002.12:166305915:T:A p.(Thr158Ser) NC_000002.12:166305915:T:A Identity +NM_001146289.2:c.1325T>C NP_001139761.1:p.Val442Ala NC_000001.11:42754888:A:G p.(Val442Ala) NC_000001.11:42754888:A:G p.(Val442Ala) NC_000001.11:42754888:A:G Identity +NM_001037.5:c.173C>T NP_001028.1:p.Thr58Ile NC_000019.10:35032659:C:T p.(Thr58Ile) NC_000019.10:35032659:C:T p.(Thr58Ile) NC_000019.10:35032659:C:T Identity +NM_002439.5:c.1924G>A NP_002430.3:p.Val642Ile NC_000005.10:80767959:G:A p.(Val642Ile) NC_000005.10:80767959:G:A p.(Val642Ile) NC_000005.10:80767959:G:A Identity +NM_006361.6:c.808A>G NP_006352.2:p.Lys270Glu NC_000017.11:48726836:T:C p.(Lys270Glu) NC_000017.11:48726836:T:C p.(Lys270Glu) NC_000017.11:48726836:T:C Identity +NM_000018.4:c.591G>C NP_000009.1:p.Gln197His NC_000017.11:7221650:G:C p.(Gln197His) NC_000017.11:7221650:G:C p.(Gln197His) NC_000017.11:7221650:G:C Identity +NM_001351527.2:c.2119A>G NP_001338456.1:p.Ile707Val NC_000009.12:132329478:T:C p.(Ile707Val) NC_000009.12:132329478:T:C p.(Ile707Val) NC_000009.12:132329478:T:C Identity +NM_000251.3:c.2521A>G NP_000242.1:p.Ile841Val NC_000002.12:47480757:A:G p.(Ile841Val) NC_000002.12:47480757:A:G p.(Ile841Val) NC_000002.12:47480757:A:G Identity +NM_006343.3:c.515C>G NP_006334.2:p.Ser172Trp NC_000002.12:111944991:C:G p.(Ser172Trp) NC_000002.12:111944991:C:G p.(Ser172Trp) NC_000002.12:111944991:C:G Identity +NM_001378454.1:c.10575C>A NP_001365383.1:p.His3525Gln NC_000002.12:73572451:C:A p.(His3525Gln) NC_000002.12:73572451:C:A p.(His3525Gln) NC_000002.12:73572451:C:A Identity +NM_000038.6:c.2171C>T NP_000029.2:p.Ala724Val NC_000005.10:112837764:C:T p.(Ala724Val) NC_000005.10:112837764:C:T p.(Ala724Val) NC_000005.10:112837764:C:T Identity +NM_001127713.1:c.1330G>T NP_001121185.1:p.Ala444Ser NC_000014.9:50628240:G:T p.(Ala444Ser) NC_000014.9:50628240:G:T p.(Ala444Ser) NC_000014.9:50628240:G:T Identity +NM_001195573.1:c.3563G>A NP_001182502.1:p.Ser1188Asn NC_000014.9:95103832:C:T p.(Ser1188Asn) NC_000014.9:95103832:C:T p.(Ser1188Asn) NC_000014.9:95103832:C:T Identity +NM_145020.5:c.253G>A NP_659457.2:p.Asp85Asn NC_000018.10:50262035:C:T p.(Asp85Asn) NC_000018.10:50262035:C:T p.(Asp85Asn) NC_000018.10:50262035:C:T Identity +NM_001005407.2:c.5959G>A NP_001005407.1:p.Glu1987Lys NC_000016.10:1219058:G:A p.(Glu1987Lys) NC_000016.10:1219058:G:A p.(Glu1987Lys) NC_000016.10:1219058:G:A Identity +NM_000330.4:c.3G>A NP_000321.1:p.Met1Ile NC_000023.11:18672065:C:T p.(Met1Ile) NC_000023.11:18672065:C:T p.Met1? NC_000023.11:18672065:C:T Identity +NM_000022.4:c.645_648dup NP_000013.2:p.Glu217fs NC_000020.11:44623036:CCCG:CCCGCCCG p.(Glu217ArgfsTer35) NC_000020.11:44623036:CCCG:CCCGCCCG p.(Glu217ArgfsTer35) ERR:SPDI Analogous +NM_001127487.2:c.2216C>T NP_001120959.1:p.Thr739Ile NC_000007.14:128842324:C:T p.(Thr739Ile) NC_000007.14:128842324:C:T p.(Thr739Ile) NC_000007.14:128842324:C:T Identity +NM_001142571.2:c.10C>G NP_001136043.1:p.Leu4Val NC_000017.11:35119603:G:C p.(Leu4Val) NC_000017.11:35119603:G:C p.(Leu4Val) NC_000017.11:35119603:G:C Identity +NM_001039885.3:c.1238del NP_001034974.1:p.Leu413fs NC_000019.10:46756686:TT:T p.(Leu413CysfsTer15) NC_000019.10:46756686:TT:T p.(Leu413CysfsTer15) NC_000019.10:46756687:T: Analogous +NM_000410.4:c.724G>A NP_000401.1:p.Asp242Asn NC_000006.12:26092791:G:A p.(Asp242Asn) NC_000006.12:26092791:G:A p.(Asp242Asn) NC_000006.12:26092791:G:A Identity +NM_007123.6:c.3403A>G NP_009054.6:p.Arg1135Gly NC_000001.11:216200034:T:C p.(Arg1135Gly) NC_000001.11:216200034:T:C p.(Arg1135Gly) NC_000001.11:216200034:T:C Identity +NM_024105.4:c.605G>A NP_077010.1:p.Arg202Gln NC_000022.11:49909952:C:T p.(Arg202Gln) NC_000022.11:49909952:C:T p.(Arg202Gln) NC_000022.11:49909952:C:T Identity +NM_000302.4:c.2141C>T NP_000293.2:p.Thr714Ile NC_000001.11:11974764:C:T p.(Thr714Ile) NC_000001.11:11974764:C:T p.(Thr714Ile) NC_000001.11:11974764:C:T Identity +NM_001378454.1:c.8541G>T NP_001365383.1:p.Met2847Ile NC_000002.12:73490499:G:T p.(Met2847Ile) NC_000002.12:73490499:G:T p.(Met2847Ile) NC_000002.12:73490499:G:T Identity +NM_004656.4:c.385T>C NP_004647.1:p.Tyr129His NC_000003.12:52407450:A:G p.(Tyr129His) NC_000003.12:52407450:A:G p.(Tyr129His) NC_000003.12:52407450:A:G Identity +NM_004370.6:c.1106C>T NP_004361.3:p.Thr369Ile NC_000006.12:75184035:G:A p.(Thr369Ile) NC_000006.12:75184035:G:A p.(Thr369Ile) NC_000006.12:75184035:G:A Identity +NM_000426.4:c.8366T>C NP_000417.3:p.Ile2789Thr NC_000006.12:129503098:T:C p.(Ile2789Thr) NC_000006.12:129503098:T:C p.(Ile2789Thr) NC_000006.12:129503098:T:C Identity +NM_000388.4:c.3062C>T NP_000379.3:p.Thr1021Met NC_000003.12:122285015:C:T p.(Thr1021Met) NC_000003.12:122285015:C:T p.(Thr1021Met) NC_000003.12:122285015:C:T Identity +NM_001244008.2:c.1622G>T NP_001230937.1:p.Ser541Ile NC_000002.12:240766976:C:A p.(Ser541Ile) NC_000002.12:240766976:C:A p.(Ser541Ile) NC_000002.12:240766976:C:A Identity +NM_000283.4:c.491C>G NP_000274.3:p.Ala164Gly NC_000004.12:634698:C:G p.(Ala164Gly) NC_000004.12:634698:C:G p.(Ala164Gly) NC_000004.12:634698:C:G Identity +NM_001144996.2:c.3170C>T NP_001138468.1:p.Ala1057Val NC_000012.12:55687995:G:A p.(Ala1057Val) NC_000012.12:55687995:G:A p.(Ala1057Val) NC_000012.12:55687995:G:A Identity +NM_002439.5:c.148G>A NP_002430.3:p.Gly50Ser NC_000005.10:80654874:G:A p.(Gly50Ser) NC_000005.10:80654874:G:A p.(Gly50Ser) NC_000005.10:80654874:G:A Identity +NM_001195263.2:c.728A>G NP_001182192.1:p.His243Arg NC_000010.11:101021936:T:C p.(His243Arg) NC_000010.11:101021936:T:C p.(His243Arg) NC_000010.11:101021936:T:C Identity +NM_001385111.1:c.297G>C NP_001372040.1:p.Gln99His NC_000012.12:56355791:C:G p.(Gln99His) NC_000012.12:56355791:C:G p.(Gln99His) NC_000012.12:56355791:C:G Identity +NM_004260.4:c.206C>G NP_004251.4:p.Ala69Gly NC_000008.11:144517420:G:C p.(Ala69Gly) NC_000008.11:144517420:G:C p.(Ala69Gly) NC_000008.11:144517420:G:C Identity +NM_015243.3:c.1843G>T NP_056058.2:p.Asp615Tyr NC_000008.11:99143164:G:T p.(Asp615Tyr) NC_000008.11:99143164:G:T p.(Asp615Tyr) NC_000008.11:99143164:G:T Identity +NM_000118.4:c.1624dup NP_000109.1:p.Lys543Glnfs NC_000009.12:127818179:GGG:GGGG p.(Lys543GlnfsTer24) NC_000009.12:127818179:GGG:GGGG p.(Lys543GlnfsTer24) ERR:SPDI Analogous +NM_001177428.1:c.203G>A NP_001170899.1:p.Arg68His NC_000012.12:109814593:C:T p.(Arg68His) NC_000012.12:109814593:C:T p.(Arg68His) NC_000012.12:109814593:C:T Identity +NM_145290.4:c.3454A>C NP_660333.2:p.Lys1152Gln NC_000004.12:22388216:T:G p.(Lys1152Gln) NC_000004.12:22388216:T:G p.(Lys1152Gln) NC_000004.12:22388216:T:G Identity +NM_001199107.2:c.680G>A NP_001186036.1:p.Arg227Gln NC_000016.10:2496827:G:A p.(Arg227Gln) NC_000016.10:2496827:G:A p.(Arg227Gln) NC_000016.10:2496827:G:A Identity +NM_001317924.2:c.3179C>T NP_001304853.1:p.Pro1060Leu NC_000004.12:39274900:C:T p.(Pro1060Leu) NC_000004.12:39274900:C:T p.(Pro1060Leu) NC_000004.12:39274900:C:T Identity +NM_001144964.1:c.891G>A NP_001138436.1:p.Met297Ile NC_000018.10:58341165:G:A p.(Met297Ile) NC_000018.10:58341165:G:A p.(Met297Ile) NC_000018.10:58341165:G:A Identity +NM_015072.5:c.332G>A NP_055887.3:p.Arg111His NC_000014.9:75683616:G:A p.(Arg111His) NC_000014.9:75683616:G:A p.(Arg111His) NC_000014.9:75683616:G:A Identity +NM_001366385.1:c.2917G>C NP_001353314.1:p.Asp973His NC_000017.11:80208246:G:C p.(Asp973His) NC_000017.11:80208246:G:C p.(Asp973His) NC_000017.11:80208246:G:C Identity +NM_001130846.4:c.643C>T NP_001124318.2:p.Pro215Ser NC_000023.11:130130079:G:A p.(Pro215Ser) NC_000023.11:130130079:G:A p.(Pro215Ser) NC_000023.11:130130079:G:A Identity +NM_021072.4:c.1857C>A NP_066550.2:p.Asn619Lys NC_000005.10:45262736:G:T p.(Asn619Lys) NC_000005.10:45262736:G:T p.(Asn619Lys) NC_000005.10:45262736:G:T Identity +NM_005732.4:c.1952A>T NP_005723.2:p.Lys651Ile NC_000005.10:132595026:A:T p.(Lys651Ile) NC_000005.10:132595026:A:T p.(Lys651Ile) NC_000005.10:132595026:A:T Identity +NM_001164097.2:c.4537C>T NP_001157569.1:p.Pro1513Ser NC_000005.10:83540500:C:T p.(Pro1513Ser) NC_000005.10:83540500:C:T p.(Pro1513Ser) NC_000005.10:83540500:C:T Identity +NM_001256267.2:c.1936G>A NP_001243196.1:p.Val646Met NC_000010.11:68166628:G:A p.(Val646Met) NC_000010.11:68166628:G:A p.(Val646Met) NC_000010.11:68166628:G:A Identity +NM_001288781.1:c.763G>C NP_001275710.1:p.Gly255Arg NC_000014.9:88857193:G:C p.(Gly255Arg) NC_000014.9:88857193:G:C p.(Gly255Arg) NC_000014.9:88857193:G:C Identity +NM_000245.4:c.764G>T NP_000236.2:p.Ser255Ile NC_000007.14:116699847:G:T p.(Ser255Ile) NC_000007.14:116699847:G:T p.(Ser255Ile) NC_000007.14:116699847:G:T Identity +NM_001171930.2:c.2125A>G NP_001165401.1:p.Ile709Val NC_000010.11:71690532:A:G p.(Ile709Val) NC_000010.11:71690532:A:G p.(Ile709Val) NC_000010.11:71690532:A:G Identity +NM_001345962.2:c.685G>A NP_001332891.1:p.Ala229Thr NC_000004.12:83462686:C:T p.(Ala229Thr) NC_000004.12:83462686:C:T p.(Ala229Thr) NC_000004.12:83462686:C:T Identity +NM_002439.5:c.3148C>T NP_002430.3:p.Pro1050Ser NC_000005.10:80873132:C:T p.(Pro1050Ser) NC_000005.10:80873132:C:T p.(Pro1050Ser) NC_000005.10:80873132:C:T Identity +NM_001621.5:c.1625T>C NP_001612.1:p.Ile542Thr NC_000007.14:17339449:T:C p.(Ile542Thr) NC_000007.14:17339449:T:C p.(Ile542Thr) NC_000007.14:17339449:T:C Identity +NM_001113755.3:c.520C>T NP_001107227.1:p.Gln174Ter NC_000022.11:50527713:G:A p.(Gln174Ter) NC_000022.11:50527713:G:A p.(Gln174Ter) NC_000022.11:50527713:G:A Identity +NM_153461.4:c.106G>A NP_703191.2:p.Val36Met NC_000003.12:9917420:G:A p.(Val36Met) NC_000003.12:9917420:G:A p.(Val36Met) NC_000003.12:9917420:G:A Identity +NM_015164.4:c.366G>C NP_055979.2:p.Lys122Asn NC_000001.11:15717980:G:C p.(Lys122Asn) NC_000001.11:15717980:G:C p.(Lys122Asn) NC_000001.11:15717980:G:C Identity +NM_006231.4:c.587A>C NP_006222.2:p.Gln196Pro NC_000012.12:132677710:T:G p.(Gln196Pro) NC_000012.12:132677710:T:G p.(Gln196Pro) NC_000012.12:132677710:T:G Identity +NM_032043.3:c.185C>T NP_114432.2:p.Ala62Val NC_000017.11:61859815:G:A p.(Ala62Val) NC_000017.11:61859815:G:A p.(Ala62Val) NC_000017.11:61859815:G:A Identity +NM_000059.4:c.6451G>A NP_000050.3:p.Val2151Ile NC_000013.11:32340805:G:A p.(Val2151Ile) NC_000013.11:32340805:G:A p.(Val2151Ile) NC_000013.11:32340805:G:A Identity +NM_000245.4:c.1424C>T NP_000236.2:p.Pro475Leu NC_000007.14:116739980:C:T p.(Pro475Leu) NC_000007.14:116739980:C:T p.(Pro475Leu) NC_000007.14:116739980:C:T Identity +NM_024741.3:c.52G>A NP_079017.1:p.Ala18Thr NC_000011.10:46701098:G:A p.(Ala18Thr) NC_000011.10:46701098:G:A p.(Ala18Thr) NC_000011.10:46701098:G:A Identity +NM_001256849.1:c.265C>T NP_001243778.1:p.Pro89Ser NC_000019.10:50399432:C:T p.(Pro89Ser) NC_000019.10:50399432:C:T p.(Pro89Ser) NC_000019.10:50399432:C:T Identity +NM_001130442.3:c.383G>A NP_001123914.1:p.Arg128Gln NC_000011.10:533519:C:T p.(Arg128Gln) NC_000011.10:533519:C:T p.(Arg128Gln) NC_000011.10:533519:C:T Identity +NM_003924.4:c.52A>G NP_003915.2:p.Met18Val NC_000004.12:41748558:T:C p.(Met18Val) NC_000004.12:41748558:T:C p.(Met18Val) NC_000004.12:41748558:T:C Identity +NM_005732.4:c.3655G>T NP_005723.2:p.Glu1219Ter NC_000005.10:132640707:G:T p.(Glu1219Ter) NC_000005.10:132640707:G:T p.(Glu1219Ter) NC_000005.10:132640707:G:T Identity +NM_001353765.2:c.235G>C NP_001340694.1:p.Val79Leu NC_000002.12:29222527:C:G p.(Val79Leu) NC_000002.12:29222527:C:G p.(Val79Leu) NC_000002.12:29222527:C:G Identity +NM_001256850.1:c.61870dup NP_001243779.1:p.Ala20624fs NC_000002.12:178580585:C:CC p.(Ala20624GlyfsTer33) NC_000002.12:178580585:C:CC p.(Ala20624GlyfsTer33) ERR:SPDI Analogous +NM_003803.4:c.3547C>T NP_003794.3:p.Arg1183Ter NC_000018.10:3102501:G:A p.(Arg1183Ter) NC_000018.10:3102501:G:A p.(Arg1183Ter) NC_000018.10:3102501:G:A Identity +NM_001406762.1:c.1667C>A NP_001393691.1:p.Pro556His NC_000010.11:43113591:C:A p.(Pro556His) NC_000010.11:43113591:C:A p.(Pro556His) NC_000010.11:43113591:C:A Identity +NM_001195794.1:c.40G>A NP_001182723.1:p.Gly14Arg NC_000003.12:150972668:C:T p.(Gly14Arg) NC_000003.12:150972668:C:T p.(Gly14Arg) NC_000003.12:150972668:C:T Identity +NM_001172509.2:c.1379C>A NP_001165980.1:p.Thr460Asn NC_000002.12:199328704:G:T p.(Thr460Asn) NC_000002.12:199328704:G:T p.(Thr460Asn) NC_000002.12:199328704:G:T Identity +NM_001252020.2:c.1502A>G NP_001238949.1:p.Glu501Gly NC_000015.10:31049495:T:C p.(Glu501Gly) NC_000015.10:31049495:T:C p.(Glu501Gly) NC_000015.10:31049495:T:C Identity +NM_000109.4:c.8888_8889dup NP_000100.3:p.Gln2964fs NC_000023.11:31478129:GAGAGAG:GAGAGAGAG p.(Gln2964SerfsTer18) NC_000023.11:31478129:GAGAGAG:GAGAGAGAG p.(Gln2964SerfsTer18) ERR:SPDI Analogous +NM_006218.4:c.1598C>G NP_006209.2:p.Ala533Gly NC_000003.12:179218267:C:G p.(Ala533Gly) NC_000003.12:179218267:C:G p.(Ala533Gly) NC_000003.12:179218267:C:G Identity +NM_001164097.2:c.3754G>C NP_001157569.1:p.Gly1252Arg NC_000005.10:83539717:G:C p.(Gly1252Arg) NC_000005.10:83539717:G:C p.(Gly1252Arg) NC_000005.10:83539717:G:C Identity +NM_206933.4:c.15499A>G NP_996816.3:p.Met5167Val NC_000001.11:215628833:T:C p.(Met5167Val) NC_000001.11:215628833:T:C p.(Met5167Val) NC_000001.11:215628833:T:C Identity +NM_001330661.1:c.92A>T NP_001317590.1:p.Glu31Val NC_000023.11:137566782:A:T p.(Glu31Val) NC_000023.11:137566782:A:T p.(Glu31Val) NC_000023.11:137566782:A:T Identity +NM_025014.2:c.452G>A NP_079290.1:p.Arg151Gln NC_000017.11:8312490:G:A p.(Arg151Gln) NC_000017.11:8312490:G:A p.(Arg151Gln) NC_000017.11:8312490:G:A Identity +NM_001164098.2:c.2158G>A NP_001157570.1:p.Val720Ile NC_000005.10:83520463:G:A p.(Val720Ile) NC_000005.10:83520463:G:A p.(Val720Ile) NC_000005.10:83520463:G:A Identity +NM_001171653.2:c.2775G>A NP_001165124.1:p.Met925Ile NC_000002.12:144398339:C:T p.(Met925Ile) NC_000002.12:144398339:C:T p.(Met925Ile) NC_000002.12:144398339:C:T Identity +NM_206933.4:c.14926G>A NP_996816.3:p.Gly4976Ser NC_000001.11:215640599:C:T p.(Gly4976Ser) NC_000001.11:215640599:C:T p.(Gly4976Ser) NC_000001.11:215640599:C:T Identity +NM_001142800.2:c.6911G>A NP_001136272.1:p.Gly2304Glu NC_000006.12:63984526:C:T p.(Gly2304Glu) NC_000006.12:63984526:C:T p.(Gly2304Glu) NC_000006.12:63984526:C:T Identity +NM_001126131.2:c.178C>A NP_001119603.1:p.Gln60Lys NC_000015.10:89333576:G:T p.(Gln60Lys) NC_000015.10:89333576:G:T p.(Gln60Lys) NC_000015.10:89333576:G:T Identity +NM_001171971.3:c.1594C>G NP_001165442.1:p.Pro532Ala NC_000010.11:84212218:C:G p.(Pro532Ala) NC_000010.11:84212218:C:G p.(Pro532Ala) NC_000010.11:84212218:C:G Identity +NM_015192.4:c.3616G>A NP_056007.1:p.Asp1206Asn NC_000020.11:8881813:G:A p.(Asp1206Asn) NC_000020.11:8881813:G:A p.(Asp1206Asn) NC_000020.11:8881813:G:A Identity +NM_000057.4:c.633CTC[1] NP_000048.1:p.Ser213del NC_000015.10:90749899:CCTCCTC:CCTC p.(Ser213del) NC_000015.10:90749900:C:CTC ERR:Parse ERR:Parse Identity +NM_003924.4:c.251A>G NP_003915.2:p.Lys84Arg NC_000004.12:41747526:T:C p.(Lys84Arg) NC_000004.12:41747526:T:C p.(Lys84Arg) NC_000004.12:41747526:T:C Identity +NM_001375644.1:c.697G>T NP_001362573.1:p.Gly233Ter NC_000004.12:145646119:G:T p.(Gly233Ter) NC_000004.12:145646119:G:T p.(Gly233Ter) NC_000004.12:145646119:G:T Identity +NM_001031714.4:c.34G>A NP_001026884.3:p.Ala12Thr NC_000014.9:104701398:G:A p.(Ala12Thr) NC_000014.9:104701398:G:A p.(Ala12Thr) NC_000014.9:104701398:G:A Identity +NM_001037343.2:c.1673G>A NP_001032420.1:p.Arg558His NC_000023.11:18604596:G:A p.(Arg558His) NC_000023.11:18604596:G:A p.(Arg558His) NC_000023.11:18604596:G:A Identity +NM_000540.3:c.7631C>G NP_000531.2:p.Thr2544Ser NC_000019.10:38502522:C:G p.(Thr2544Ser) NC_000019.10:38502522:C:G p.(Thr2544Ser) NC_000019.10:38502522:C:G Identity +NM_001723.7:c.3766C>T NP_001714.1:p.Leu1256Phe NC_000006.12:56620267:G:A p.(Leu1256Phe) NC_000006.12:56620267:G:A p.(Leu1256Phe) NC_000006.12:56620267:G:A Identity +NM_015243.3:c.855C>A NP_056058.2:p.Tyr285Ter NC_000008.11:99115791:C:A p.(Tyr285Ter) NC_000008.11:99115791:C:A p.(Tyr285Ter) NC_000008.11:99115791:C:A Identity +NM_001293557.2:c.1340A>G NP_001280486.1:p.Gln447Arg NC_000016.10:50711331:A:G p.(Gln447Arg) NC_000016.10:50711331:A:G p.(Gln447Arg) NC_000016.10:50711331:A:G Identity +NM_001134830.2:c.3401T>C NP_001128302.1:p.Ile1134Thr NC_000006.12:135318543:A:G p.(Ile1134Thr) NC_000006.12:135318543:A:G p.(Ile1134Thr) NC_000006.12:135318543:A:G Identity +NM_001317195.3:c.1648C>T NP_001304124.1:p.Pro550Ser NC_000016.10:68687588:C:T p.(Pro550Ser) NC_000016.10:68687588:C:T p.(Pro550Ser) NC_000016.10:68687588:C:T Identity +NM_001317195.3:c.1703C>T NP_001304124.1:p.Thr568Met NC_000016.10:68687643:C:T p.(Thr568Met) NC_000016.10:68687643:C:T p.(Thr568Met) NC_000016.10:68687643:C:T Identity +NM_001104577.2:c.434G>A NP_001098047.1:p.Arg145Gln NC_000017.11:5034054:C:T p.(Arg145Gln) NC_000017.11:5034054:C:T p.(Arg145Gln) NC_000017.11:5034054:C:T Identity +NM_001145265.2:c.611C>T NP_001138737.1:p.Thr204Met NC_000011.10:45810889:C:T p.(Thr204Met) NC_000011.10:45810889:C:T p.(Thr204Met) NC_000011.10:45810889:C:T Identity +NM_001256789.3:c.3140G>A NP_001243718.1:p.Arg1047Gln NC_000023.11:49216477:C:T p.(Arg1047Gln) NC_000023.11:49216477:C:T p.(Arg1047Gln) NC_000023.11:49216477:C:T Identity +NM_000341.4:c.566C>A NP_000332.2:p.Thr189Lys NC_000002.12:44280850:C:A p.(Thr189Lys) NC_000002.12:44280850:C:A p.(Thr189Lys) NC_000002.12:44280850:C:A Identity +NM_001080522.2:c.1511C>T NP_001073991.2:p.Thr504Ile NC_000004.12:15533236:C:T p.(Thr504Ile) NC_000004.12:15533236:C:T p.(Thr504Ile) NC_000004.12:15533236:C:T Identity +NM_001272003.2:c.337G>A NP_001258932.1:p.Glu113Lys NC_000009.12:135753982:G:A p.(Glu113Lys) NC_000009.12:135753982:G:A p.(Glu113Lys) NC_000009.12:135753982:G:A Identity +NM_001203263.2:c.1973C>A NP_001190192.2:p.Ala658Asp NC_000003.12:9933441:C:A p.(Ala658Asp) NC_000003.12:9933441:C:A p.(Ala658Asp) NC_000003.12:9933441:C:A Identity +NM_002312.3:c.1532C>G NP_002303.2:p.Thr511Ser NC_000013.11:108209736:G:C p.(Thr511Ser) NC_000013.11:108209736:G:C p.(Thr511Ser) NC_000013.11:108209736:G:C Identity +NM_001276503.2:c.58T>A NP_001263432.1:p.Leu20Met NC_000011.10:112087861:T:A p.(Leu20Met) NC_000011.10:112087861:T:A p.(Leu20Met) NC_000011.10:112087861:T:A Identity +NM_001008844.3:c.3103G>A NP_001008844.1:p.Glu1035Lys NC_000006.12:7579292:G:A p.(Glu1035Lys) NC_000006.12:7579292:G:A p.(Glu1035Lys) NC_000006.12:7579292:G:A Identity +NM_000051.4:c.2429A>T NP_000042.3:p.Lys810Met NC_000011.10:108259037:A:T p.(Lys810Met) NC_000011.10:108259037:A:T p.(Lys810Met) NC_000011.10:108259037:A:T Identity +NM_001031737.3:c.1178G>C NP_001026907.2:p.Arg393Pro NC_000016.10:723116:C:G p.(Arg393Pro) NC_000016.10:723116:C:G p.(Arg393Pro) NC_000016.10:723116:C:G Identity +NM_173354.5:c.46C>G NP_775490.2:p.Gln16Glu NC_000021.9:43426132:G:C p.(Gln16Glu) NC_000021.9:43426132:G:C p.(Gln16Glu) NC_000021.9:43426132:G:C Identity +NM_001024688.3:c.1427T>A NP_001019859.1:p.Ile476Lys NC_000008.11:89953415:A:T p.(Ile476Lys) NC_000008.11:89953415:A:T p.(Ile476Lys) NC_000008.11:89953415:A:T Identity +NM_024642.5:c.776T>G NP_078918.3:p.Val259Gly NC_000009.12:98831815:T:G p.(Val259Gly) NC_000009.12:98831815:T:G p.(Val259Gly) NC_000009.12:98831815:T:G Identity +NM_000462.5:c.587C>G NP_000453.2:p.Ala196Gly NC_000015.10:25371595:G:C p.(Ala196Gly) NC_000015.10:25371595:G:C p.(Ala196Gly) NC_000015.10:25371595:G:C Identity +NM_001201484.2:c.356G>A NP_001188413.1:p.Arg119Gln NC_000009.12:35095209:C:T p.(Arg119Gln) NC_000009.12:35095209:C:T p.(Arg119Gln) NC_000009.12:35095209:C:T Identity +NM_000323.2:c.1658G>A NP_000314.1:p.Arg553Lys NC_000010.11:43112861:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001282948.2:c.6271A>G NP_001269877.1:p.Met2091Val NC_000010.11:63185575:T:C p.(Met2091Val) NC_000010.11:63185575:T:C p.(Met2091Val) NC_000010.11:63185575:T:C Identity +NM_000379.4:c.460A>G NP_000370.2:p.Arg154Gly NC_000002.12:31397702:T:C p.(Arg154Gly) NC_000002.12:31397702:T:C p.(Arg154Gly) NC_000002.12:31397702:T:C Identity +NM_001011.4:c.133A>G NP_001002.1:p.Ile45Val NC_000002.12:3575873:A:G p.(Ile45Val) NC_000002.12:3575873:A:G p.(Ile45Val) NC_000002.12:3575873:A:G Identity +NM_001127198.5:c.1603G>A NP_001120670.1:p.Val535Ile NC_000017.11:78120764:C:T p.(Val535Ile) NC_000017.11:78120764:C:T p.(Val535Ile) NC_000017.11:78120764:C:T Identity +NM_001316772.1:c.416G>A NP_001303701.1:p.Gly139Asp NC_000007.14:30603041:G:A p.(Gly139Asp) NC_000007.14:30603041:G:A p.(Gly139Asp) NC_000007.14:30603041:G:A Identity +NM_001242.5:c.761C>A NP_001233.2:p.Pro254Gln NC_000012.12:6451369:C:A p.(Pro254Gln) NC_000012.12:6451369:C:A p.(Pro254Gln) NC_000012.12:6451369:C:A Identity +NM_001172509.2:c.1741G>C NP_001165980.1:p.Val581Leu NC_000002.12:199272671:C:G p.(Val581Leu) NC_000002.12:199272671:C:G p.(Val581Leu) NC_000002.12:199272671:C:G Identity +NM_004064.5:c.281_282insT NP_004055.1:p.Lys96fs NC_000012.12:12718120::T p.(Lys96GlnfsTer29) NC_000012.12:12718119:C:T p.(Lys96GlnfsTer29) NC_000012.12:12718120:CC:T Analogous +NM_181882.3:c.1219G>T NP_870998.2:p.Ala407Ser NC_000019.10:40397132:C:A p.(Ala407Ser) NC_000019.10:40397132:C:A p.(Ala407Ser) NC_000019.10:40397132:C:A Identity +NM_015650.4:c.1247C>T NP_056465.2:p.Thr416Ile NC_000002.12:238344583:C:T p.(Thr416Ile) NC_000002.12:238344583:C:T p.(Thr416Ile) NC_000002.12:238344583:C:T Identity +NM_001143779.2:c.917A>T NP_001137251.1:p.His306Leu NC_000012.12:110143516:A:T p.(His306Leu) NC_000012.12:110143516:A:T p.(His306Leu) NC_000012.12:110143516:A:T Identity +NM_000327.4:c.518G>A NP_000318.2:p.Gly173Glu NC_000011.10:62613798:G:A p.(Gly173Glu) NC_000011.10:62613798:G:A p.(Gly173Glu) NC_000011.10:62613798:G:A Identity +NM_001377322.1:c.554C>T NP_001364251.1:p.Pro185Leu NC_000010.11:20809873:G:A p.(Pro185Leu) NC_000010.11:20809873:G:A p.(Pro185Leu) NC_000010.11:20809873:G:A Identity +NM_002618.4:c.939G>A NP_002609.1:p.Trp313Ter NC_000002.12:61048496:G:A p.(Trp313Ter) NC_000002.12:61048496:G:A p.(Trp313Ter) NC_000002.12:61048496:G:A Identity +NM_000548.5:c.2847A>G NP_000539.2:p.Ile949Met NC_000016.10:2077606:A:G p.(Ile949Met) NC_000016.10:2077606:A:G p.(Ile949Met) NC_000016.10:2077606:A:G Identity +NM_000088.4:c.1335_1336del NP_000079.2:p.Gly446fs NC_000017.11:50195063:CA: p.(Gly446CysfsTer2) NC_000017.11:50195063:CA: p.(Gly446CysfsTer2) NC_000017.11:50195063:CA: Analogous +NM_015180.6:c.14312C>T NP_055995.4:p.Ala4771Val NC_000014.9:64130219:C:T p.(Ala4771Val) NC_000014.9:64130219:C:T p.(Ala4771Val) NC_000014.9:64130219:C:T Identity +NM_001127198.5:c.352G>A NP_001120670.1:p.Gly118Arg NC_000017.11:78125803:C:T p.(Gly118Arg) NC_000017.11:78125803:C:T p.(Gly118Arg) NC_000017.11:78125803:C:T Identity +NM_001271933.2:c.2749C>G NP_001258862.1:p.Arg917Gly NC_000011.10:117394472:C:G p.(Arg917Gly) NC_000011.10:117394472:C:G p.(Arg917Gly) NC_000011.10:117394472:C:G Identity +NM_014714.4:c.3302C>T NP_055529.2:p.Ala1101Val NC_000016.10:1523668:G:A p.(Ala1101Val) NC_000016.10:1523668:G:A p.(Ala1101Val) NC_000016.10:1523668:G:A Identity +NM_001142763.2:c.3989A>G NP_001136235.1:p.Glu1330Gly NC_000010.11:53840328:T:C p.(Glu1330Gly) NC_000010.11:53840328:T:C p.(Glu1330Gly) NC_000010.11:53840328:T:C Identity +NM_017570.5:c.2654A>G NP_060040.1:p.Lys885Arg NC_000008.11:144054592:T:C p.(Lys885Arg) NC_000008.11:144054592:T:C p.(Lys885Arg) NC_000008.11:144054592:T:C Identity +NM_001365951.3:c.3112A>G NP_001352880.1:p.Asn1038Asp NC_000001.11:10336724:A:G p.(Asn1038Asp) NC_000001.11:10336724:A:G p.(Asn1038Asp) NC_000001.11:10336724:A:G Identity +NM_000222.3:c.269C>A NP_000213.1:p.Thr90Asn NC_000004.12:54695712:C:A p.(Thr90Asn) NC_000004.12:54695712:C:A p.(Thr90Asn) NC_000004.12:54695712:C:A Identity +NM_000350.3:c.4204G>A NP_000341.2:p.Ala1402Thr NC_000001.11:94031044:C:T p.(Ala1402Thr) NC_000001.11:94031044:C:T p.(Ala1402Thr) NC_000001.11:94031044:C:T Identity +NM_001184985.2:c.7190G>A NP_001171914.1:p.Arg2397Gln NC_000012.12:897642:G:A p.(Arg2397Gln) NC_000012.12:897642:G:A p.(Arg2397Gln) NC_000012.12:897642:G:A Identity +NM_000304.4:c.98G>A NP_000295.1:p.Gly33Glu NC_000017.11:15259173:C:T p.(Gly33Glu) NC_000017.11:15259173:C:T p.(Gly33Glu) NC_000017.11:15259173:C:T Identity +NM_000530.8:c.407T>G NP_000521.2:p.Val136Gly NC_000001.11:161306748:A:C p.(Val136Gly) NC_000001.11:161306748:A:C p.(Val136Gly) NC_000001.11:161306748:A:C Identity +NM_001352253.3:c.5T>G NP_001339182.1:p.Leu2Trp NC_000013.11:110706088:A:C p.(Leu2Trp) NC_000013.11:110706088:A:C p.(Leu2Trp) NC_000013.11:110706088:A:C Identity +NM_020461.4:c.4054C>T NP_065194.3:p.Pro1352Ser NC_000022.11:50220304:G:A p.(Pro1352Ser) NC_000022.11:50220304:G:A p.(Pro1352Ser) NC_000022.11:50220304:G:A Identity +NM_001363813.1:c.904A>T NP_001350742.1:p.Ile302Leu NC_000017.11:65549571:T:A p.(Ile302Leu) NC_000017.11:65549571:T:A p.(Ile302Leu) NC_000017.11:65549571:T:A Identity +NM_000051.4:c.4010T>G NP_000042.3:p.Ile1337Ser NC_000011.10:108287615:T:G p.(Ile1337Ser) NC_000011.10:108287615:T:G p.(Ile1337Ser) NC_000011.10:108287615:T:G Identity +NM_001127207.2:c.1622C>A NP_001120679.1:p.Thr541Asn NC_000002.12:216435473:C:A p.(Thr541Asn) NC_000002.12:216435473:C:A p.(Thr541Asn) NC_000002.12:216435473:C:A Identity +NM_172364.5:c.1822A>C NP_758952.4:p.Ile608Leu NC_000012.12:1874659:T:G p.(Ile608Leu) NC_000012.12:1874659:T:G p.(Ile608Leu) NC_000012.12:1874659:T:G Identity +NM_000028.3:c.2884T>A NP_000019.2:p.Ser962Thr NC_000001.11:99891290:T:A p.(Ser962Thr) NC_000001.11:99891290:T:A p.(Ser962Thr) NC_000001.11:99891290:T:A Identity +NM_025099.6:c.1993G>A NP_079375.3:p.Val665Met NC_000017.11:8232427:C:T p.(Val665Met) NC_000017.11:8232427:C:T p.(Val665Met) NC_000017.11:8232427:C:T Identity +NM_000264.5:c.103C>T NP_000255.2:p.Arg35Trp NC_000009.12:95508258:G:A p.(Arg35Trp) NC_000009.12:95508258:G:A p.(Arg35Trp) NC_000009.12:95508258:G:A Identity +NM_001365536.1:c.556G>A NP_001352465.1:p.Asp186Asn NC_000002.12:166305831:C:T p.(Asp186Asn) NC_000002.12:166305831:C:T p.(Asp186Asn) NC_000002.12:166305831:C:T Identity +NM_000081.4:c.8801G>C NP_000072.2:p.Arg2934Thr NC_000001.11:235733502:C:G p.(Arg2934Thr) NC_000001.11:235733502:C:G p.(Arg2934Thr) NC_000001.11:235733502:C:G Identity +NM_000245.4:c.3344T>C NP_000236.2:p.Ile1115Thr NC_000007.14:116778778:T:C p.(Ile1115Thr) NC_000007.14:116778778:T:C p.(Ile1115Thr) NC_000007.14:116778778:T:C Identity +NM_001190241.2:c.905T>G NP_001177170.1:p.Ile302Arg NC_000003.12:160285867:A:C p.(Ile302Arg) NC_000003.12:160285867:A:C p.(Ile302Arg) NC_000003.12:160285867:A:C Identity +NM_000440.3:c.890G>A NP_000431.2:p.Gly297Asp NC_000005.10:149921677:C:T p.(Gly297Asp) NC_000005.10:149921677:C:T p.(Gly297Asp) NC_000005.10:149921677:C:T Identity +NM_001363147.1:c.181G>T NP_001350076.1:p.Glu61Ter NC_000005.10:71592976:G:T p.(Glu61Ter) NC_000005.10:71592976:G:T p.(Glu61Ter) NC_000005.10:71592976:G:T Identity +NM_032790.4:c.58G>A NP_116179.2:p.Gly20Ser NC_000012.12:121626799:G:A p.(Gly20Ser) NW_018654719.1:32575:G:A p.(Gly20Ser) NC_000012.12:32575:G:A Identity +NM_001364858.1:c.1327G>A NP_001351787.1:p.Gly443Ser NC_000007.14:4789918:G:A p.(Gly443Ser) NC_000007.14:4789918:G:A p.(Gly443Ser) NC_000007.14:4789918:G:A Identity +NM_000038.6:c.5465_5466delinsAA NP_000029.2:p.Val1822Glu NC_000005.10:112841058:TC:AA p.(Val1822Glu) NC_000005.10:112841058:TC:AA p.(Val1822Glu) NC_000005.10:112841058:TC:AA Identity +NM_022725.4:c.911G>C NP_073562.1:p.Trp304Ser NC_000011.10:22624899:C:G p.(Trp304Ser) NC_000011.10:22624899:C:G p.(Trp304Ser) NC_000011.10:22624899:C:G Identity +NM_007123.6:c.1824dup NP_009054.6:p.Glu609Ter NC_000001.11:216292190:A:AA p.(Glu609Ter) NC_000001.11:216292190:A:AA p.(Glu609Ter) ERR:SPDI Identity +NM_001001557.4:c.758A>G NP_001001557.1:p.Gln253Arg NC_000008.11:96145172:T:C p.(Gln253Arg) NC_000008.11:96145172:T:C p.(Gln253Arg) NC_000008.11:96145172:T:C Identity +NM_001277126.2:c.1388C>T NP_001264055.1:p.Ser463Phe NC_000019.10:53810270:G:A p.(Ser463Phe) NC_000019.10:53810270:G:A p.(Ser463Phe) NC_000019.10:53810270:G:A Identity +NM_001199777.2:c.298C>T NP_001186706.1:p.Arg100Ter NC_000012.12:89491963:G:A p.(Arg100Ter) NC_000012.12:89491963:G:A p.(Arg100Ter) NC_000012.12:89491963:G:A Identity +NM_001081640.2:c.9740G>A NP_001075109.1:p.Arg3247Gln NC_000008.11:47807143:C:T p.(Arg3247Gln) NC_000008.11:47807143:C:T p.(Arg3247Gln) NC_000008.11:47807143:C:T Identity +NM_005619.5:c.745G>A NP_005610.1:p.Glu249Lys NC_000019.10:45494234:C:T p.(Glu249Lys) NC_000019.10:45494234:C:T p.(Glu249Lys) NC_000019.10:45494234:C:T Identity +NM_001256944.2:c.1885C>T NP_001243873.1:p.Arg629Trp NC_000023.11:10220851:C:T p.(Arg629Trp) NC_000023.11:10220851:C:T p.(Arg629Trp) NC_000023.11:10220851:C:T Identity +NM_001286414.3:c.1306C>G NP_001273343.1:p.Pro436Ala NC_000015.10:43398063:C:G p.(Pro436Ala) NC_000015.10:43398063:C:G p.(Pro436Ala) NC_000015.10:43398063:C:G Identity +NM_001378355.1:c.283G>A NP_001365284.1:p.Val95Ile NC_000019.10:49819273:G:A p.(Val95Ile) NC_000019.10:49819273:G:A p.(Val95Ile) NC_000019.10:49819273:G:A Identity +NM_006231.4:c.4461C>G NP_006222.2:p.Ile1487Met NC_000012.12:132643313:G:C p.(Ile1487Met) NC_000012.12:132643313:G:C p.(Ile1487Met) NC_000012.12:132643313:G:C Identity +NM_001160227.2:c.5880G>A NP_001153699.1:p.Met1960Ile NC_000015.10:44572806:C:T p.(Met1960Ile) NC_000015.10:44572806:C:T p.(Met1960Ile) NC_000015.10:44572806:C:T Identity +NM_001014431.2:c.722G>A NP_001014431.1:p.Arg241Gln NC_000014.9:104773560:C:T p.(Arg241Gln) NC_000014.9:104773560:C:T p.(Arg241Gln) NC_000014.9:104773560:C:T Identity +NM_001297571.2:c.23G>A NP_001284500.1:p.Arg8His NC_000012.12:6841309:G:A p.(Arg8His) NC_000012.12:6841309:G:A p.(Arg8His) NC_000012.12:6841309:G:A Identity +NM_001374420.1:c.2090G>A NP_001361349.1:p.Arg697His NC_000004.12:169477332:C:T p.(Arg697His) NC_000004.12:169477332:C:T p.(Arg697His) NC_000004.12:169477332:C:T Identity +NM_001099274.3:c.163G>A NP_001092744.1:p.Glu55Lys NC_000014.9:24242169:C:T p.(Glu55Lys) NC_000014.9:24242169:C:T p.(Glu55Lys) NC_000014.9:24242169:C:T Identity +NM_001042473.4:c.523A>G NP_001035938.1:p.Lys175Glu NC_000010.11:27218180:T:C p.(Lys175Glu) NC_000010.11:27218180:T:C p.(Lys175Glu) NC_000010.11:27218180:T:C Identity +NM_001164665.2:c.1543A>G NP_001158137.1:p.Ser515Gly NC_000007.14:138918082:T:C p.(Ser515Gly) NC_000007.14:138918082:T:C p.(Ser515Gly) NC_000007.14:138918082:T:C Identity +NM_001195622.2:c.1870C>T NP_001182551.1:p.Arg624Cys NC_000009.12:32542459:G:A p.(Arg624Cys) NC_000009.12:32542459:G:A p.(Arg624Cys) NC_000009.12:32542459:G:A Identity +NM_001281303.2:c.1126G>C NP_001268232.1:p.Ala376Pro NC_000009.12:92046008:C:G p.(Ala376Pro) NC_000009.12:92046008:C:G p.(Ala376Pro) NC_000009.12:92046008:C:G Identity +NM_020461.4:c.5206G>A NP_065194.3:p.Val1736Ile NC_000022.11:50218079:C:T p.(Val1736Ile) NC_000022.11:50218079:C:T p.(Val1736Ile) NC_000022.11:50218079:C:T Identity +NM_004459.7:c.7513C>T NP_004450.3:p.Pro2505Ser NC_000017.11:67945842:C:T p.(Pro2505Ser) NC_000017.11:67945842:C:T p.(Pro2505Ser) NC_000017.11:67945842:C:T Identity +NM_000080.4:c.410C>T NP_000071.1:p.Thr137Met NC_000017.11:4902021:G:A p.(Thr137Met) NC_000017.11:4902021:G:A p.(Thr137Met) NC_000017.11:4902021:G:A Identity +NM_001144769.5:c.7150G>A NP_001138241.1:p.Val2384Ile NC_000006.12:56572793:C:T p.(Val2384Ile) NC_000006.12:56572793:C:T p.(Val2384Ile) NC_000006.12:56572793:C:T Identity +NM_000546.6:c.910_911delinsGAGGTAAGCAAGG NP_000537.3:p.Thr304fs NC_000017.11:7673708:GT:CCTTGCTTACCTC p.(Thr304GlufsTer45) NC_000017.11:7673708:GTG:GCCTTGCTTACCTC p.(Thr304GlufsTer45) NC_000017.11:7673708:GT:CCTTGCTTACCTC Analogous +NM_001007792.1:c.347C>T NP_001007793.1:p.Ser116Leu NC_000001.11:156868111:C:T p.(Ser116Leu) NC_000001.11:156868111:C:T p.(Ser116Leu) NC_000001.11:156868111:C:T Identity +NM_002241.5:c.451C>A NP_002232.2:p.Leu151Met NC_000001.11:160042081:G:T p.(Leu151Met) NC_000001.11:160042081:G:T p.(Leu151Met) NC_000001.11:160042081:G:T Identity +NM_001130823.3:c.3913C>T NP_001124295.1:p.Arg1305Cys NC_000019.10:10139710:G:A p.(Arg1305Cys) NC_000019.10:10139710:G:A p.(Arg1305Cys) NC_000019.10:10139710:G:A Identity +NM_005340.7:c.136C>T NP_005331.1:p.Pro46Ser NC_000005.10:131162651:G:A p.(Pro46Ser) NC_000005.10:131162651:G:A p.(Pro46Ser) NC_000005.10:131162651:G:A Identity +NM_000981.4:c.2T>G NP_000972.1:p.Met1Arg NC_000017.11:39200345:T:G p.(Met1Arg) NC_000017.11:39200345:T:G p.Met1? NC_000017.11:39200345:T:G Identity +NM_001144769.5:c.12581A>G NP_001138241.1:p.Tyr4194Cys NC_000006.12:56509715:T:C p.(Tyr4194Cys) NC_000006.12:56509715:T:C p.(Tyr4194Cys) NC_000006.12:56509715:T:C Identity +NM_001144769.5:c.13673G>A NP_001138241.1:p.Arg4558His NC_000006.12:56497919:C:T p.(Arg4558His) NC_000006.12:56497919:C:T p.(Arg4558His) NC_000006.12:56497919:C:T Identity +NM_001302946.2:c.145A>G NP_001289875.2:p.Thr49Ala NC_000003.12:3129184:A:G p.(Thr49Ala) NC_000003.12:3129184:A:G p.(Thr49Ala) NC_000003.12:3129184:A:G Identity +NM_006767.4:c.550A>G NP_006758.2:p.Ser184Gly NC_000022.11:20988828:A:G p.(Ser184Gly) NC_000022.11:20988828:A:G p.(Ser184Gly) NC_000022.11:20988828:A:G Identity +NM_001195573.1:c.1273G>A NP_001182502.1:p.Glu425Lys NC_000014.9:95124298:C:T p.(Glu425Lys) NC_000014.9:95124298:C:T p.(Glu425Lys) NC_000014.9:95124298:C:T Identity +NM_000252.3:c.1753C>G NP_000243.1:p.Pro585Ala NC_000023.11:150671535:C:G p.(Pro585Ala) NC_000023.11:150671535:C:G p.(Pro585Ala) NC_000023.11:150671535:C:G Identity +NM_001144769.5:c.6569G>A NP_001138241.1:p.Ser2190Asn NC_000006.12:56578914:C:T p.(Ser2190Asn) NC_000006.12:56578914:C:T p.(Ser2190Asn) NC_000006.12:56578914:C:T Identity +NM_001363227.2:c.1721C>T NP_001350156.1:p.Thr574Met NC_000008.11:43197859:C:T p.(Thr574Met) NC_000008.11:43197859:C:T p.(Thr574Met) NC_000008.11:43197859:C:T Identity +NM_001142763.2:c.4625_4629dup NP_001136235.1:p.Ser1544fs NC_000010.11:53823117:TACTT:TACTTTACTT p.(Ser1544LysfsTer15) NC_000010.11:53823117:TACTT:TACTTTACTT p.(Ser1544LysfsTer15) ERR:SPDI Analogous +NM_001126105.3:c.241C>T NP_001119577.1:p.Leu81Phe NC_000014.9:22813157:G:A p.(Leu81Phe) NC_000014.9:22813157:G:A p.(Leu81Phe) NC_000014.9:22813157:G:A Identity +NM_015243.3:c.1081G>C NP_056058.2:p.Asp361His NC_000008.11:99121319:G:C p.(Asp361His) NC_000008.11:99121319:G:C p.(Asp361His) NC_000008.11:99121319:G:C Identity +NM_000321.3:c.309_312del NP_000312.2:p.Phe104fs NC_000013.11:48342641:TCTTT:T p.(Phe104LeufsTer6) NC_000013.11:48342641:TCTTT:T p.(Phe104LeufsTer6) NC_000013.11:48342642:CTTT: Analogous +NM_014252.4:c.217G>A NP_055067.1:p.Ala73Thr NC_000013.11:40799217:G:A p.(Ala73Thr) NC_000013.11:40799217:G:A p.(Ala73Thr) NC_000013.11:40799217:G:A Identity +NM_001288951.2:c.777G>C NP_001275880.1:p.Lys259Asn NC_000002.12:46993461:G:C p.(Lys259Asn) NC_000002.12:46993461:G:C p.(Lys259Asn) NC_000002.12:46993461:G:C Identity +NM_000243.3:c.1352T>G NP_000234.1:p.Phe451Cys NC_000016.10:3248912:A:C p.(Phe451Cys) NC_000016.10:3248912:A:C p.(Phe451Cys) NC_000016.10:3248912:A:C Identity +NM_006231.4:c.2946T>G NP_006222.2:p.Ile982Met NC_000012.12:132661082:A:C p.(Ile982Met) NC_000012.12:132661082:A:C p.(Ile982Met) NC_000012.12:132661082:A:C Identity +NM_001252020.2:c.2417G>A NP_001238949.1:p.Arg806His NC_000015.10:31038116:C:T p.(Arg806His) NC_000015.10:31038116:C:T p.(Arg806His) NC_000015.10:31038116:C:T Identity +NM_001127649.3:c.548G>A NP_001121121.1:p.Gly183Asp NC_000022.11:18083612:G:A p.(Gly183Asp) NC_000022.11:18083612:G:A p.(Gly183Asp) NC_000022.11:18083612:G:A Identity +NM_000319.5:c.1744C>T NP_000310.2:p.Arg582Trp NC_000012.12:7210070:C:T p.(Arg582Trp) NC_000012.12:7210070:C:T p.(Arg582Trp) NC_000012.12:7210070:C:T Identity +NM_006231.4:c.4179_4180delinsT NP_006222.2:p.Met1393fs NC_000012.12:132643946:CC:A p.(Met1393IlefsTer60) NC_000012.12:132643946:CC:A p.(Met1393IlefsTer60) NC_000012.12:132643946:CC:A Analogous +NM_015702.3:c.557T>C NP_056517.1:p.Met186Thr NC_000002.12:149575762:A:G p.(Met186Thr) NC_000002.12:149575762:A:G p.(Met186Thr) NC_000002.12:149575762:A:G Identity +NM_001099679.2:c.494G>T NP_001093149.1:p.Arg165Leu NC_000009.12:116698235:G:T p.(Arg165Leu) NC_000009.12:116698235:G:T p.(Arg165Leu) NC_000009.12:116698235:G:T Identity +NM_000059.4:c.6616A>G NP_000050.3:p.Lys2206Glu NC_000013.11:32340970:A:G p.(Lys2206Glu) NC_000013.11:32340970:A:G p.(Lys2206Glu) NC_000013.11:32340970:A:G Identity +NM_001283009.2:c.1310G>C NP_001269938.1:p.Arg437Pro NC_000020.11:63685833:G:C p.(Arg437Pro) NC_000020.11:63685833:G:C p.(Arg437Pro) NC_000020.11:63685833:G:C Identity +NM_032806.6:c.550G>A NP_116195.2:p.Gly184Ser NC_000003.12:43080881:C:T p.(Gly184Ser) NC_000003.12:43080881:C:T p.(Gly184Ser) NC_000003.12:43080881:C:T Identity +NM_001844.5:c.11T>C NP_001835.3:p.Leu4Pro NC_000012.12:48004310:A:G p.(Leu4Pro) NC_000012.12:48004310:A:G p.(Leu4Pro) NC_000012.12:48004310:A:G Identity +NM_015662.3:c.899G>A NP_056477.1:p.Arg300Gln NC_000002.12:27480035:C:T p.(Arg300Gln) NC_000002.12:27480035:C:T p.(Arg300Gln) NC_000002.12:27480035:C:T Identity +NM_000070.3:c.1003G>A NP_000061.1:p.Ala335Thr NC_000015.10:42392695:G:A p.(Ala335Thr) NC_000015.10:42392695:G:A p.(Ala335Thr) NC_000015.10:42392695:G:A Identity +NM_000137.4:c.272T>G NP_000128.1:p.Val91Gly NC_000015.10:80159834:T:G p.(Val91Gly) NC_000015.10:80159834:T:G p.(Val91Gly) NC_000015.10:80159834:T:G Identity +NM_001164507.2:c.24859C>T NP_001157979.2:p.Arg8287Trp NC_000002.12:151492400:G:A p.(Arg8287Trp) NC_000002.12:151492400:G:A p.(Arg8287Trp) NC_000002.12:151492400:G:A Identity +NM_001122752.2:c.203C>A NP_001116224.1:p.Thr68Asn NC_000003.12:167789330:C:A p.(Thr68Asn) NC_000003.12:167789330:C:A p.(Thr68Asn) NC_000003.12:167789330:C:A Identity +NM_001384880.1:c.68A>T NP_001371809.1:p.Asp23Val NC_000002.12:191009935:T:A p.(Asp23Val) NC_000002.12:191009935:T:A p.(Asp23Val) NC_000002.12:191009935:T:A Identity +NM_015192.4:c.1415A>C NP_056007.1:p.Lys472Thr NC_000020.11:8717749:A:C p.(Lys472Thr) NC_000020.11:8717749:A:C p.(Lys472Thr) NC_000020.11:8717749:A:C Identity +NM_001164097.2:c.4527C>G NP_001157569.1:p.Asn1509Lys NC_000005.10:83540490:C:G p.(Asn1509Lys) NC_000005.10:83540490:C:G p.(Asn1509Lys) NC_000005.10:83540490:C:G Identity +NM_015180.6:c.6194T>C NP_055995.4:p.Met2065Thr NC_000014.9:64025362:T:C p.(Met2065Thr) NC_000014.9:64025362:T:C p.(Met2065Thr) NC_000014.9:64025362:T:C Identity +NM_033087.4:c.107C>T NP_149078.1:p.Ala36Val NC_000009.12:99221787:G:A p.(Ala36Val) NC_000009.12:99221787:G:A p.(Ala36Val) NC_000009.12:99221787:G:A Identity +NM_001318746.1:c.854G>A NP_001305675.1:p.Gly285Glu NC_000006.12:106572032:C:T p.(Gly285Glu) NC_000006.12:106572032:C:T p.(Gly285Glu) NC_000006.12:106572032:C:T Identity +NM_001079878.2:c.1972C>T NP_001073347.1:p.Pro658Ser NC_000002.12:98397195:C:T p.(Pro658Ser) NC_000002.12:98397195:C:T p.(Pro658Ser) NC_000002.12:98397195:C:T Identity +NM_000220.6:c.1134C>A NP_000211.1:p.Phe378Leu NC_000011.10:128839166:G:T p.(Phe378Leu) NC_000011.10:128839166:G:T p.(Phe378Leu) NC_000011.10:128839166:G:T Identity +NM_001036.6:c.683A>G NP_001027.3:p.His228Arg NC_000015.10:33543657:A:G p.(His228Arg) NC_000015.10:33543657:A:G p.(His228Arg) NC_000015.10:33543657:A:G Identity +NM_001164507.2:c.20504G>A NP_001157979.2:p.Arg6835Gln NC_000002.12:151545960:C:T p.(Arg6835Gln) NC_000002.12:151545960:C:T p.(Arg6835Gln) NC_000002.12:151545960:C:T Identity +NM_014141.6:c.542G>A NP_054860.1:p.Cys181Tyr NC_000007.14:147044045:G:A p.(Cys181Tyr) NC_000007.14:147044045:G:A p.(Cys181Tyr) NC_000007.14:147044045:G:A Identity +NM_004281.4:c.1031_1032del NP_004272.2:p.Lys344fs NC_000010.11:119676583:AAA:A p.(Lys344ArgfsTer5) NC_000010.11:119676583:AAA:A p.(Lys344ArgfsTer5) NC_000010.11:119676584:AA: Analogous +NM_001144769.5:c.15980G>A NP_001138241.1:p.Arg5327His NC_000006.12:56470266:C:T p.(Arg5327His) NC_000006.12:56470266:C:T p.(Arg5327His) NC_000006.12:56470266:C:T Identity +NM_000538.4:c.457G>T NP_000529.1:p.Val153Leu NC_000013.11:36819813:G:T p.(Val153Leu) NC_000013.11:36819813:G:T p.(Val153Leu) NC_000013.11:36819813:G:T Identity +NM_001363729.2:c.998G>A NP_001350658.1:p.Arg333His NC_000020.11:36916785:C:T p.(Arg333His) NC_000020.11:36916785:C:T p.(Arg333His) NC_000020.11:36916785:C:T Identity +NM_000544.3:c.1402G>A NP_000535.3:p.Val468Met NC_000006.12:32830676:C:T p.(Val468Met) NT_167244.2:4135542:C:T p.(Val468Met) NC_000006.12:4135542:C:T Identity +NM_001346599.2:c.665C>T NP_001333528.1:p.Pro222Leu NC_000007.14:105548612:C:T p.(Pro222Leu) NC_000007.14:105548612:C:T p.(Pro222Leu) NC_000007.14:105548612:C:T Identity +NM_001135242.2:c.722G>A NP_001128714.1:p.Arg241Gln NC_000008.11:133248747:C:T p.(Arg241Gln) NC_000008.11:133248747:C:T p.(Arg241Gln) NC_000008.11:133248747:C:T Identity +NM_001165928.4:c.691G>T NP_001159400.3:p.Val231Leu NC_000003.12:49531201:G:T p.(Val231Leu) NC_000003.12:49531201:G:T p.(Val231Leu) NC_000003.12:49531201:G:T Identity +NM_000445.5:c.3011A>G NP_000436.2:p.Gln1004Arg NC_000008.11:143929564:T:C p.(Gln1004Arg) NC_000008.11:143929564:T:C p.(Gln1004Arg) NC_000008.11:143929564:T:C Identity +NM_002907.4:c.766A>G NP_002898.2:p.Thr256Ala NC_000012.12:21477903:T:C p.(Thr256Ala) NC_000012.12:21477903:T:C p.(Thr256Ala) NC_000012.12:21477903:T:C Identity +NM_001081955.3:c.1108A>G NP_001075424.1:p.Met370Val NC_000017.11:65204214:A:G p.(Met370Val) NC_000017.11:65204214:A:G p.(Met370Val) NC_000017.11:65204214:A:G Identity +NM_001127897.4:c.2130A>G NP_001121369.1:p.Ile710Met NC_000016.10:53652556:T:C p.(Ile710Met) NC_000016.10:53652556:T:C p.(Ile710Met) NC_000016.10:53652556:T:C Identity +NM_001243925.2:c.1036_1038delinsCAA NP_001230854.1:p.Tyr346Gln NC_000003.12:50647932:TAC:CAA p.(Tyr346Gln) NC_000003.12:50647932:TAC:CAA p.(Tyr346Gln) NC_000003.12:50647932:TAC:CAA Identity +NM_001323517.1:c.302C>A NP_001310446.1:p.Pro101His NC_000010.11:93600445:G:T p.(Pro101His) NC_000010.11:93600445:G:T p.(Pro101His) NC_000010.11:93600445:G:T Identity +NM_015335.5:c.4289_4290delinsAA NP_056150.1:p.Leu1430Ter NC_000012.12:115986313:CA:TT p.(Leu1430Ter) NC_000012.12:115986313:CA:TT p.(Leu1430Ter) NC_000012.12:115986313:CA:TT Identity +NM_001080522.2:c.941_943delinsC NP_001073991.2:p.Leu314fs NC_000004.12:15515927:TTT:C p.(Leu314ProfsTer33) NC_000004.12:15515927:TTT:C p.(Leu314ProfsTer33) NC_000004.12:15515927:TTT:C Analogous +NM_000217.3:c.2T>G NP_000208.2:p.Met1Arg NC_000012.12:4911379:T:G p.(Met1Arg) NC_000012.12:4911379:T:G p.Met1? NC_000012.12:4911379:T:G Identity +NM_001098512.3:c.1568A>G NP_001091982.1:p.Glu523Gly NC_000010.11:52282219:A:G p.(Glu523Gly) NC_000010.11:52282219:A:G p.(Glu523Gly) NC_000010.11:52282219:A:G Identity +NM_006231.4:c.4901G>C NP_006222.2:p.Arg1634Pro NC_000012.12:132642556:C:G p.(Arg1634Pro) NC_000012.12:132642556:C:G p.(Arg1634Pro) NC_000012.12:132642556:C:G Identity +NM_000057.4:c.131A>G NP_000048.1:p.Asp44Gly NC_000015.10:90749398:A:G p.(Asp44Gly) NC_000015.10:90749398:A:G p.(Asp44Gly) NC_000015.10:90749398:A:G Identity +NM_000028.3:c.2729G>A NP_000019.2:p.Arg910Gln NC_000001.11:99888024:G:A p.(Arg910Gln) NC_000001.11:99888024:G:A p.(Arg910Gln) NC_000001.11:99888024:G:A Identity +NM_000222.3:c.829A>C NP_000213.1:p.Ile277Leu NC_000004.12:54703795:A:C p.(Ile277Leu) NC_000004.12:54703795:A:C p.(Ile277Leu) NC_000004.12:54703795:A:C Identity +NM_017890.5:c.8177T>C NP_060360.3:p.Ile2726Thr NC_000008.11:99817543:T:C p.(Ile2726Thr) NC_000008.11:99817543:T:C p.(Ile2726Thr) NC_000008.11:99817543:T:C Identity +NM_001306090.2:c.1257_1259delinsAGTT NP_001293019.1:p.Glu420fs NC_000004.12:5752993:GGA:AGTT p.(Glu420SerfsTer57) NC_000004.12:5752989:AGGAGGAG:AGGAGAGTT p.(Glu420ValfsTer57) NC_000004.12:5752993:GGA:AGTT Analogous +NM_000057.4:c.3367A>C NP_000048.1:p.Ser1123Arg NC_000015.10:90803528:A:C p.(Ser1123Arg) NC_000015.10:90803528:A:C p.(Ser1123Arg) NC_000015.10:90803528:A:C Identity +NM_000098.3:c.1943T>C NP_000089.1:p.Phe648Ser NC_000001.11:53213560:T:C p.(Phe648Ser) NC_000001.11:53213560:T:C p.(Phe648Ser) NC_000001.11:53213560:T:C Identity +NM_005236.3:c.1201C>T NP_005227.1:p.Leu401Phe NC_000016.10:13934289:C:T p.(Leu401Phe) NC_000016.10:13934289:C:T p.(Leu401Phe) NC_000016.10:13934289:C:T Identity +NM_001172309.2:c.979C>T NP_001165780.1:p.Arg327Ter NC_000001.11:77933398:C:T p.(Arg327Ter) NC_000001.11:77933398:C:T p.(Arg327Ter) NC_000001.11:77933398:C:T Identity +NM_000492.4:c.2626G>A NP_000483.3:p.Ala876Thr NC_000007.14:117602831:G:A p.(Ala876Thr) NC_000007.14:117602831:G:A p.(Ala876Thr) NC_000007.14:117602831:G:A Identity +NM_015192.4:c.3449A>G NP_056007.1:p.Tyr1150Cys NC_000020.11:8881646:A:G p.(Tyr1150Cys) NC_000020.11:8881646:A:G p.(Tyr1150Cys) NC_000020.11:8881646:A:G Identity +NM_001007792.1:c.1212C>G NP_001007793.1:p.Asn404Lys NC_000001.11:156874973:C:G p.(Asn404Lys) NC_000001.11:156874973:C:G p.(Asn404Lys) NC_000001.11:156874973:C:G Identity +NM_001144769.5:c.6707C>G NP_001138241.1:p.Ser2236Cys NC_000006.12:56573850:G:C p.(Ser2236Cys) NC_000006.12:56573850:G:C p.(Ser2236Cys) NC_000006.12:56573850:G:C Identity +NM_001144769.5:c.16510C>T NP_001138241.1:p.Pro5504Ser NC_000006.12:56463584:G:A p.(Pro5504Ser) NC_000006.12:56463584:G:A p.(Pro5504Ser) NC_000006.12:56463584:G:A Identity +NM_001364440.2:c.405A>C NP_001351369.1:p.Leu135Phe NC_000005.10:7877946:A:C p.(Leu135Phe) NC_000005.10:7877946:A:C p.(Leu135Phe) NC_000005.10:7877946:A:C Identity +NM_001135242.2:c.730C>T NP_001128714.1:p.Pro244Ser NC_000008.11:133248739:G:A p.(Pro244Ser) NC_000008.11:133248739:G:A p.(Pro244Ser) NC_000008.11:133248739:G:A Identity +NM_001079812.3:c.3737A>G NP_001073280.1:p.Glu1246Gly NC_000005.10:141516905:T:C p.(Glu1246Gly) NC_000005.10:141516905:T:C p.(Glu1246Gly) NC_000005.10:141516905:T:C Identity +NM_001005407.2:c.362G>A NP_001005407.1:p.Arg121Gln NC_000016.10:1195033:G:A p.(Arg121Gln) NC_000016.10:1195033:G:A p.(Arg121Gln) NC_000016.10:1195033:G:A Identity +NM_000081.4:c.5186A>T NP_000072.2:p.Lys1729Met NC_000001.11:235780892:T:A p.(Lys1729Met) NC_000001.11:235780892:T:A p.(Lys1729Met) NC_000001.11:235780892:T:A Identity +NM_001366624.2:c.358A>G NP_001353553.1:p.Ile120Val NC_000013.11:76995919:A:G p.(Ile120Val) NC_000013.11:76995919:A:G p.(Ile120Val) NC_000013.11:76995919:A:G Identity +NM_001330343.2:c.329C>G NP_001317272.1:p.Thr110Ser NC_000012.12:8605312:G:C p.(Thr110Ser) NC_000012.12:8605312:G:C p.(Thr110Ser) NC_000012.12:8605312:G:C Identity +NM_006073.4:c.1600_1602delinsT NP_006064.2:p.Ile534fs NC_000006.12:123273358:TAT:A p.(Ile534PhefsTer2) NC_000006.12:123273358:TAT:A p.(Ile534PhefsTer2) NC_000006.12:123273358:TAT:A Analogous +NM_000109.4:c.3169G>C NP_000100.3:p.Ala1057Pro NC_000023.11:32464668:C:G p.(Ala1057Pro) NC_000023.11:32464668:C:G p.(Ala1057Pro) NC_000023.11:32464668:C:G Identity +NM_001242385.2:c.1284del NP_001229314.1:p.Phe428fs NC_000006.12:10791706:AAAAA:AAAA p.(Phe428LeufsTer37) NC_000006.12:10791706:AAAAA:AAAA p.(Phe428LeufsTer37) NC_000006.12:10791706:A: Analogous +NM_001144769.5:c.13756G>A NP_001138241.1:p.Glu4586Lys NC_000006.12:56497488:C:T p.(Glu4586Lys) NC_000006.12:56497488:C:T p.(Glu4586Lys) NC_000006.12:56497488:C:T Identity +NM_032119.4:c.2753G>A NP_115495.3:p.Arg918Lys NC_000005.10:90644723:G:A p.(Arg918Lys) NC_000005.10:90644723:G:A p.(Arg918Lys) NC_000005.10:90644723:G:A Identity +NM_006445.4:c.271G>T NP_006436.3:p.Ala91Ser NC_000017.11:1682291:C:A p.(Ala91Ser) NC_000017.11:1682291:C:A p.(Ala91Ser) NC_000017.11:1682291:C:A Identity +NM_004260.4:c.3255C>G NP_004251.4:p.Cys1085Trp NC_000008.11:144512048:G:C p.(Cys1085Trp) NC_000008.11:144512048:G:C p.(Cys1085Trp) NC_000008.11:144512048:G:C Identity +NM_025114.4:c.4501G>A NP_079390.3:p.Val1501Ile NC_000012.12:88084788:C:T p.(Val1501Ile) NC_000012.12:88084788:C:T p.(Val1501Ile) NC_000012.12:88084788:C:T Identity +NM_000256.3:c.1393G>T NP_000247.2:p.Val465Leu NC_000011.10:47342893:C:A p.(Val465Leu) NC_000011.10:47342893:C:A p.(Val465Leu) NC_000011.10:47342893:C:A Identity +NM_001319945.2:c.413G>A NP_001306874.1:p.Arg138His NC_000017.11:44074766:G:A p.(Arg138His) NC_000017.11:44074766:G:A p.(Arg138His) NC_000017.11:44074766:G:A Identity +NM_001077494.3:c.2249C>G NP_001070962.1:p.Ala750Gly NC_000010.11:102401473:C:G p.(Ala750Gly) NC_000010.11:102401473:C:G p.(Ala750Gly) NC_000010.11:102401473:C:G Identity +NM_005530.3:c.13G>T NP_005521.1:p.Ala5Ser NC_000015.10:78149415:G:T p.(Ala5Ser) NC_000015.10:78149415:G:T p.(Ala5Ser) NC_000015.10:78149415:G:T Identity +NM_000237.3:c.289_294delinsTTTGCCAAAA NP_000228.1:p.Ala97fs NC_000008.11:19951807:GCCGCC:TTTGCCAAAA p.(Ala97PhefsTer52) NC_000008.11:19951807:GCCGCC:TTTGCCAAAA p.(Ala97PhefsTer52) NC_000008.11:19951807:GCCGCC:TTTGCCAAAA Analogous +NM_012213.3:c.1174C>T NP_036345.2:p.Arg392Trp NC_000016.10:83915180:C:T p.(Arg392Trp) NC_000016.10:83915180:C:T p.(Arg392Trp) NC_000016.10:83915180:C:T Identity +NM_001048171.2:c.1552dup NP_001041636.2:p.Ser518fs NC_000001.11:45329319:T:TT p.(Ser518LysfsTer14) NC_000001.11:45329319:T:TT p.(Ser518LysfsTer14) ERR:SPDI Analogous +NM_000539.3:c.173C>T NP_000530.1:p.Thr58Met NC_000003.12:129528905:C:T p.(Thr58Met) NC_000003.12:129528905:C:T p.(Thr58Met) NC_000003.12:129528905:C:T Identity +NM_004281.4:c.1528C>T NP_004272.2:p.Leu510Phe NC_000010.11:119677081:C:T p.(Leu510Phe) NC_000010.11:119677081:C:T p.(Leu510Phe) NC_000010.11:119677081:C:T Identity +NM_001159508.3:c.52C>T NP_001152980.2:p.Arg18Trp NC_000015.10:40405878:C:T p.(Arg18Trp) NC_000015.10:40405878:C:T p.(Arg18Trp) NC_000015.10:40405878:C:T Identity +NM_001184795.1:c.181G>A NP_001171724.1:p.Val61Ile NC_000001.11:145916967:C:T p.(Val61Ile) NC_000001.11:145916967:C:T p.(Val61Ile) NC_000001.11:145916967:C:T Identity +NM_004260.4:c.476C>T NP_004251.4:p.Pro159Leu NC_000008.11:144516642:G:A p.(Pro159Leu) NC_000008.11:144516642:G:A p.(Pro159Leu) NC_000008.11:144516642:G:A Identity +NM_001256850.1:c.15293_15297delinsCTGTCT NP_001243779.1:p.Glu5098fs NC_000002.12:178732927:GATCT:AGACAG p.(Glu5098AspfsTer9) NC_000002.12:178732926:TGATCT:TAGACAG p.(Glu5098AlafsTer9) NC_000002.12:178732927:GATCT:AGACAG Analogous +NM_001142800.2:c.3024C>A NP_001136272.1:p.Cys1008Ter NC_000006.12:64822790:G:T p.(Cys1008Ter) NC_000006.12:64822790:G:T p.(Cys1008Ter) NC_000006.12:64822790:G:T Identity +NM_001282948.2:c.1231A>G NP_001269877.1:p.Lys411Glu NC_000010.11:63214389:T:C p.(Lys411Glu) NC_000010.11:63214389:T:C p.(Lys411Glu) NC_000010.11:63214389:T:C Identity +NM_000834.5:c.3851G>T NP_000825.2:p.Ser1284Ile NC_000012.12:13563386:C:A p.(Ser1284Ile) NC_000012.12:13563386:C:A p.(Ser1284Ile) NC_000012.12:13563386:C:A Identity +NM_004304.5:c.557G>A NP_004295.2:p.Arg186Lys NC_000002.12:29920102:C:T p.(Arg186Lys) NC_000002.12:29920102:C:T p.(Arg186Lys) NC_000002.12:29920102:C:T Identity +NM_000251.3:c.2756A>T NP_000242.1:p.Asn919Ile NC_000002.12:47482899:A:T p.(Asn919Ile) NC_000002.12:47482899:A:T p.(Asn919Ile) NC_000002.12:47482899:A:T Identity +NM_000528.4:c.2431C>T NP_000519.2:p.Leu811Phe NC_000019.10:12649140:G:A p.(Leu811Phe) NC_000019.10:12649140:G:A p.(Leu811Phe) NC_000019.10:12649140:G:A Identity +NM_001407672.1:c.3405_3407delinsAA NP_001394601.1:p.Phe1135fs NC_000017.11:43091997:CTA:TT p.(Phe1135LeufsTer33) NC_000017.11:43091997:CTA:TT p.(Phe1135LeufsTer33) NC_000017.11:43091997:CTA:TT Analogous +NM_006612.6:c.3292G>A NP_006603.2:p.Glu1098Lys NC_000017.11:5024130:G:A p.(Glu1098Lys) NC_000017.11:5024130:G:A p.(Glu1098Lys) NC_000017.11:5024130:G:A Identity +NM_000038.6:c.970A>G NP_000029.2:p.Thr324Ala NC_000005.10:112819001:A:G p.(Thr324Ala) NC_000005.10:112819001:A:G p.(Thr324Ala) NC_000005.10:112819001:A:G Identity +NM_032119.4:c.18880G>A NP_115495.3:p.Val6294Met NC_000005.10:91163858:G:A p.(Val6294Met) NC_000005.10:91163858:G:A p.(Val6294Met) NC_000005.10:91163858:G:A Identity +NM_018190.4:c.1036C>T NP_060660.2:p.Arg346Trp NC_000004.12:121847404:G:A p.(Arg346Trp) NC_000004.12:121847404:G:A p.(Arg346Trp) NC_000004.12:121847404:G:A Identity +NM_000101.4:c.402C>G NP_000092.2:p.Ile134Met NC_000016.10:88643538:G:C p.(Ile134Met) NC_000016.10:88643538:G:C p.(Ile134Met) NC_000016.10:88643538:G:C Identity +NM_001160227.2:c.4237delinsTA NP_001153699.1:p.Val1413fs NC_000015.10:44596279:C:TA p.(Val1413TyrfsTer14) NC_000015.10:44596279:C:TA p.(Val1413TyrfsTer14) NC_000015.10:44596279:C:TA Analogous +NM_001145847.2:c.1927T>C NP_001139319.1:p.Tyr643His NC_000004.12:15991250:A:G p.(Tyr643His) NC_000004.12:15991250:A:G p.(Tyr643His) NC_000004.12:15991250:A:G Identity +NM_001134830.2:c.3245T>G NP_001128302.1:p.Phe1082Cys NC_000006.12:135323244:A:C p.(Phe1082Cys) NC_000006.12:135323244:A:C p.(Phe1082Cys) NC_000006.12:135323244:A:C Identity +NM_001406768.1:c.2762T>A NP_001393697.1:p.Met921Lys NC_000010.11:43124968:T:A p.(Met921Lys) NC_000010.11:43124968:T:A p.(Met921Lys) NC_000010.11:43124968:T:A Identity +NM_030943.4:c.805C>T NP_112205.2:p.Arg269Trp NC_000014.9:102929698:C:T p.(Arg269Trp) NC_000014.9:102929698:C:T p.(Arg269Trp) NC_000014.9:102929698:C:T Identity +NM_000214.3:c.2609T>C NP_000205.1:p.Ile870Thr NC_000020.11:10641855:A:G p.(Ile870Thr) NC_000020.11:10641855:A:G p.(Ile870Thr) NC_000020.11:10641855:A:G Identity +NM_001081753.3:c.391G>T NP_001075222.1:p.Gly131Cys NC_000007.14:74043116:G:T p.(Gly131Cys) NC_000007.14:74043116:G:T p.(Gly131Cys) NC_000007.14:74043116:G:T Identity +NM_001130823.3:c.1100C>T NP_001124295.1:p.Pro367Leu NC_000019.10:10159911:G:A p.(Pro367Leu) NC_000019.10:10159911:G:A p.(Pro367Leu) NC_000019.10:10159911:G:A Identity +NM_000263.4:c.241A>G NP_000254.2:p.Thr81Ala NC_000017.11:42536512:A:G p.(Thr81Ala) NC_000017.11:42536512:A:G p.(Thr81Ala) NC_000017.11:42536512:A:G Identity +NM_001142298.2:c.558del NP_001135770.1:p.Val187fs NC_000005.10:179833082:CCCCC:CCCC p.(Val187SerfsTer41) NC_000005.10:179833082:CCCCC:CCCC p.(Val187SerfsTer41) NC_000005.10:179833086:C: Analogous +NM_001271933.2:c.3514A>G NP_001258862.1:p.Thr1172Ala NC_000011.10:117407927:A:G p.(Thr1172Ala) NC_000011.10:117407927:A:G p.(Thr1172Ala) NC_000011.10:117407927:A:G Identity +NM_000719.7:c.3473T>A NP_000710.5:p.Met1158Lys NC_000012.12:2608626:T:A p.(Met1158Lys) NC_000012.12:2608626:T:A p.(Met1158Lys) NC_000012.12:2608626:T:A Identity +NM_001144769.5:c.10252G>T NP_001138241.1:p.Val3418Leu NC_000006.12:56536939:C:A p.(Val3418Leu) NC_000006.12:56536939:C:A p.(Val3418Leu) NC_000006.12:56536939:C:A Identity +NM_001083908.2:c.299C>G NP_001077377.1:p.Ala100Gly NC_000014.9:49634850:G:C p.(Ala100Gly) NC_000014.9:49634850:G:C p.(Ala100Gly) NC_000014.9:49634850:G:C Identity +NM_022114.4:c.2849G>A NP_071397.3:p.Arg950Gln NC_000001.11:3417984:G:A p.(Arg950Gln) NC_000001.11:3417984:G:A p.(Arg950Gln) NC_000001.11:3417984:G:A Identity +NM_001294332.2:c.1510T>G NP_001281261.1:p.Phe504Val NC_000005.10:251093:T:G p.(Phe504Val) NC_000005.10:251093:T:G p.(Phe504Val) NC_000005.10:251093:T:G Identity +NM_000087.5:c.947C>G NP_000078.3:p.Ser316Cys NC_000004.12:47937534:G:C p.(Ser316Cys) NC_000004.12:47937534:G:C p.(Ser316Cys) NC_000004.12:47937534:G:C Identity +NM_000028.3:c.2761G>A NP_000019.2:p.Gly921Arg NC_000001.11:99888056:G:A p.(Gly921Arg) NC_000001.11:99888056:G:A p.(Gly921Arg) NC_000001.11:99888056:G:A Identity +NM_001164507.2:c.13441C>T NP_001157979.2:p.Gln4481Ter NC_000002.12:151601935:G:A p.(Gln4481Ter) NC_000002.12:151601935:G:A p.(Gln4481Ter) NC_000002.12:151601935:G:A Identity +NM_001278055.2:c.3002A>C NP_001264984.1:p.Lys1001Thr NC_000013.11:23340432:T:G p.(Lys1001Thr) NC_000013.11:23340432:T:G p.(Lys1001Thr) NC_000013.11:23340432:T:G Identity +NM_000101.4:c.134C>T NP_000092.2:p.Ala45Val NC_000016.10:88647169:G:A p.(Ala45Val) NC_000016.10:88647169:G:A p.(Ala45Val) NC_000016.10:88647169:G:A Identity +NM_000293.3:c.2593C>G NP_000284.1:p.Pro865Ala NC_000016.10:47669379:C:G p.(Pro865Ala) NC_000016.10:47669379:C:G p.(Pro865Ala) NC_000016.10:47669379:C:G Identity +NM_001164232.2:c.556_557inv NP_001157704.1:p.Thr186Val NC_000008.11:38238142:AC:GT p.(Thr186Val) NC_000008.11:38238142:AC:GT p.(Thr186Val) ERR:SPDI Identity +NM_001142800.2:c.2903A>G NP_001136272.1:p.Asn968Ser NC_000006.12:64886785:T:C p.(Asn968Ser) NC_000006.12:64886785:T:C p.(Asn968Ser) NC_000006.12:64886785:T:C Identity +NM_000318.3:c.742G>A NP_000309.2:p.Gly248Arg NC_000008.11:76983436:C:T p.(Gly248Arg) NC_000008.11:76983436:C:T p.(Gly248Arg) NC_000008.11:76983436:C:T Identity +NM_001256850.1:c.97134del NP_001243779.1:p.Asn32379fs NC_000002.12:178534557:A: p.(Asn32379ThrfsTer9) NC_000002.12:178534557:A: p.(Asn32379ThrfsTer9) NC_000002.12:178534557:A: Analogous +NM_000124.4:c.2650_2665dup NP_000115.1:p.Thr889fs NC_000010.11:49473520:TGGTACCATCCATCTT:TGGTACCATCCATCTTTGGTACCATCCATCTT p.(Thr889LysfsTer20) NC_000010.11:49473520:TGGTACCATCCATCTT:TGGTACCATCCATCTTTGGTACCATCCATCTT p.(Thr889LysfsTer20) ERR:SPDI Analogous +NM_001377289.1:c.148G>A NP_001364218.1:p.Gly50Ser NC_000006.12:70281038:C:T p.(Gly50Ser) NC_000006.12:70281038:C:T p.(Gly50Ser) NC_000006.12:70281038:C:T Identity +NM_000057.4:c.146T>C NP_000048.1:p.Val49Ala NC_000015.10:90749413:T:C p.(Val49Ala) NC_000015.10:90749413:T:C p.(Val49Ala) NC_000015.10:90749413:T:C Identity +NM_000260.4:c.3607G>T NP_000251.3:p.Ala1203Ser NC_000011.10:77189446:G:T p.(Ala1203Ser) NC_000011.10:77189446:G:T p.(Ala1203Ser) NC_000011.10:77189446:G:T Identity +NM_001193304.3:c.640A>T NP_001180233.1:p.Met214Leu NC_000002.12:96253884:T:A p.(Met214Leu) NC_000002.12:96253884:T:A p.(Met214Leu) NC_000002.12:96253884:T:A Identity +NM_001105243.2:c.2502C>G NP_001098713.1:p.Asn834Lys NC_000023.11:100350677:G:C p.(Asn834Lys) NC_000023.11:100350677:G:C p.(Asn834Lys) NC_000023.11:100350677:G:C Identity +NM_000059.4:c.3491T>C NP_000050.3:p.Leu1164Pro NC_000013.11:32337845:T:C p.(Leu1164Pro) NC_000013.11:32337845:T:C p.(Leu1164Pro) NC_000013.11:32337845:T:C Identity +NM_000243.3:c.334G>A NP_000234.1:p.Glu112Lys NC_000016.10:3254733:C:T p.(Glu112Lys) NC_000016.10:3254733:C:T p.(Glu112Lys) NC_000016.10:3254733:C:T Identity +NM_001317924.2:c.634G>A NP_001304853.1:p.Val212Ile NC_000004.12:39215992:G:A p.(Val212Ile) NC_000004.12:39215992:G:A p.(Val212Ile) NC_000004.12:39215992:G:A Identity +NM_025099.6:c.1331C>T NP_079375.3:p.Ser444Phe NC_000017.11:8235160:G:A p.(Ser444Phe) NC_000017.11:8235160:G:A p.(Ser444Phe) NC_000017.11:8235160:G:A Identity +NM_021942.6:c.1043T>G NP_068761.4:p.Phe348Cys NC_000004.12:183680196:T:G p.(Phe348Cys) NC_000004.12:183680196:T:G p.(Phe348Cys) NC_000004.12:183680196:T:G Identity +NM_015650.4:c.908A>G NP_056465.2:p.Glu303Gly NC_000002.12:238329334:A:G p.(Glu303Gly) NC_000002.12:238329334:A:G p.(Glu303Gly) NC_000002.12:238329334:A:G Identity +NM_006269.2:c.5641G>A NP_006260.1:p.Val1881Ile NC_000008.11:54629522:G:A p.(Val1881Ile) NC_000008.11:54629522:G:A p.(Val1881Ile) NC_000008.11:54629522:G:A Identity +NM_001377498.1:c.242G>A NP_001364427.1:p.Arg81His NC_000002.12:219157619:C:T p.(Arg81His) NC_000002.12:219157619:C:T p.(Arg81His) NC_000002.12:219157619:C:T Identity +NM_032119.4:c.1217T>C NP_115495.3:p.Ile406Thr NC_000005.10:90627754:T:C p.(Ile406Thr) NC_000005.10:90627754:T:C p.(Ile406Thr) NC_000005.10:90627754:T:C Identity +NM_004010.3:c.1949A>C NP_004001.1:p.Lys650Thr NC_000023.11:32501816:T:G p.(Lys650Thr) NC_000023.11:32501816:T:G p.(Lys650Thr) NC_000023.11:32501816:T:G Identity +NM_000535.7:c.1397G>C NP_000526.2:p.Gly466Ala NC_000007.14:5987367:C:G p.(Gly466Ala) NC_000007.14:5987367:C:G p.(Gly466Ala) NC_000007.14:5987367:C:G Identity +NM_001127671.2:c.1435C>T NP_001121143.1:p.Gln479Ter NC_000005.10:38503977:G:A p.(Gln479Ter) NC_000005.10:38503977:G:A p.(Gln479Ter) NC_000005.10:38503977:G:A Identity +NM_000138.5:c.601G>A NP_000129.3:p.Gly201Arg NC_000015.10:48537745:C:T p.(Gly201Arg) NC_000015.10:48537745:C:T p.(Gly201Arg) NC_000015.10:48537745:C:T Identity +NM_020461.4:c.2317C>T NP_065194.3:p.Arg773Cys NC_000022.11:50222545:G:A p.(Arg773Cys) NC_000022.11:50222545:G:A p.(Arg773Cys) NC_000022.11:50222545:G:A Identity +NM_001318219.1:c.1880G>A NP_001305148.1:p.Arg627Gln NC_000020.11:35498714:G:A p.(Arg627Gln) NC_000020.11:35498714:G:A p.(Arg627Gln) NC_000020.11:35498714:G:A Identity +NM_025114.4:c.6760dup NP_079390.3:p.Arg2254fs NC_000012.12:88058905:T:TT p.(Arg2254LysfsTer6) NC_000012.12:88058905:T:TT p.(Arg2254LysfsTer6) ERR:SPDI Analogous +NM_001365951.3:c.3013T>G NP_001352880.1:p.Phe1005Val NC_000001.11:10334607:T:G p.(Phe1005Val) NC_000001.11:10334607:T:G p.(Phe1005Val) NC_000001.11:10334607:T:G Identity +NM_001083926.2:c.56G>A NP_001077395.1:p.Arg19Gln NC_000011.10:62338032:G:A p.(Arg19Gln) NC_000011.10:62338032:G:A p.(Arg19Gln) NC_000011.10:62338032:G:A Identity +NM_001346279.2:c.2165A>G NP_001333208.1:p.Tyr722Cys NC_000011.10:10770264:A:G p.(Tyr722Cys) NC_000011.10:10770264:A:G p.(Tyr722Cys) NC_000011.10:10770264:A:G Identity +NM_000717.5:c.835C>T NP_000708.1:p.Arg279Cys NC_000017.11:60159319:C:T p.(Arg279Cys) NC_000017.11:60159319:C:T p.(Arg279Cys) NC_000017.11:60159319:C:T Identity +NM_000222.3:c.792C>A NP_000213.1:p.His264Gln NC_000004.12:54703758:C:A p.(His264Gln) NC_000004.12:54703758:C:A p.(His264Gln) NC_000004.12:54703758:C:A Identity +NM_001363518.2:c.640G>C NP_001350447.1:p.Asp214His NC_000010.11:71362053:G:C p.(Asp214His) NC_000010.11:71362053:G:C p.(Asp214His) NC_000010.11:71362053:G:C Identity +NM_020361.5:c.1072C>T NP_065094.3:p.Leu358Phe NC_000008.11:67428100:G:A p.(Leu358Phe) NC_000008.11:67428100:G:A p.(Leu358Phe) NC_000008.11:67428100:G:A Identity +NM_000017.4:c.422C>T NP_000008.1:p.Thr141Met NC_000012.12:120737416:C:T p.(Thr141Met) NC_000012.12:120737416:C:T p.(Thr141Met) NC_000012.12:120737416:C:T Identity +NM_001178007.2:c.433A>G NP_001171478.1:p.Lys145Glu NC_000004.12:122742324:A:G p.(Lys145Glu) NC_000004.12:122742324:A:G p.(Lys145Glu) NC_000004.12:122742324:A:G Identity +NM_000093.5:c.2715G>T NP_000084.3:p.Lys905Asn NC_000009.12:134795095:G:T p.(Lys905Asn) NC_000009.12:134795095:G:T p.(Lys905Asn) NC_000009.12:134795095:G:T Identity +NM_014141.6:c.3622G>A NP_054860.1:p.Glu1208Lys NC_000007.14:148383794:G:A p.(Glu1208Lys) NC_000007.14:148383794:G:A p.(Glu1208Lys) NC_000007.14:148383794:G:A Identity +NM_001366624.2:c.323A>C NP_001353553.1:p.Asp108Ala NC_000013.11:76995211:A:C p.(Asp108Ala) NC_000013.11:76995211:A:C p.(Asp108Ala) NC_000013.11:76995211:A:C Identity +NM_206933.4:c.14053A>G NP_996816.3:p.Asn4685Asp NC_000001.11:215671051:T:C p.(Asn4685Asp) NC_000001.11:215671051:T:C p.(Asn4685Asp) NC_000001.11:215671051:T:C Identity +NM_145020.5:c.1101C>A NP_659457.2:p.Asp367Glu NC_000018.10:50243011:G:T p.(Asp367Glu) NC_000018.10:50243011:G:T p.(Asp367Glu) NC_000018.10:50243011:G:T Identity +NM_001160210.2:c.1656_1658del NP_001153682.1:p.Ala553del NC_000007.14:96121933:GCAGC:GC p.(Ala553del) NC_000007.14:96121933:GCAGC:GC p.(Ala553del) NC_000007.14:96121933:GCA: Identity +NM_001283009.2:c.2834A>G NP_001269938.1:p.Lys945Arg NC_000020.11:63692985:A:G p.(Lys945Arg) NC_000020.11:63692985:A:G p.(Lys945Arg) NC_000020.11:63692985:A:G Identity +NM_000535.7:c.2338C>T NP_000526.2:p.Pro780Ser NC_000007.14:5977694:G:A p.(Pro780Ser) NC_000007.14:5977694:G:A p.(Pro780Ser) NC_000007.14:5977694:G:A Identity +NM_001127897.4:c.3587A>G NP_001121369.1:p.Asn1196Ser NC_000016.10:53605488:T:C p.(Asn1196Ser) NC_000016.10:53605488:T:C p.(Asn1196Ser) NC_000016.10:53605488:T:C Identity +NM_001177316.2:c.799A>C NP_001170787.2:p.Thr267Pro NC_000009.12:137233674:A:C p.(Thr267Pro) NC_000009.12:137233674:A:C p.(Thr267Pro) NC_000009.12:137233674:A:C Identity +NM_199242.3:c.1928C>T NP_954712.1:p.Thr643Ile NC_000017.11:75834983:G:A p.(Thr643Ile) NC_000017.11:75834983:G:A p.(Thr643Ile) NC_000017.11:75834983:G:A Identity +NM_001122633.3:c.3272T>G NP_001116105.2:p.Ile1091Ser NC_000002.12:210647992:T:G p.(Ile1091Ser) NC_000002.12:210647992:T:G p.(Ile1091Ser) NC_000002.12:210647992:T:G Identity +NM_005732.4:c.3877A>T NP_005723.2:p.Ile1293Phe NC_000005.10:132642301:A:T p.(Ile1293Phe) NC_000005.10:132642301:A:T p.(Ile1293Phe) NC_000005.10:132642301:A:T Identity +NM_001122957.4:c.347T>C NP_001116429.1:p.Ile116Thr NC_000016.10:31109754:T:C p.(Ile116Thr) NC_000016.10:31109754:T:C p.(Ile116Thr) NC_000016.10:31109754:T:C Identity +NM_001377456.1:c.1931dup NP_001364385.1:p.Tyr644Ter NC_000016.10:56485717:T:TT p.(Tyr644Ter) NC_000016.10:56485717:T:TT p.(Tyr644Ter) ERR:SPDI Identity +NM_006231.4:c.3505A>C NP_006222.2:p.Lys1169Gln NC_000012.12:132657212:T:G p.(Lys1169Gln) NC_000012.12:132657212:T:G p.(Lys1169Gln) NC_000012.12:132657212:T:G Identity +NM_015346.4:c.1482C>A NP_056161.2:p.Asn494Lys NC_000014.9:67802235:G:T p.(Asn494Lys) NC_000014.9:67802235:G:T p.(Asn494Lys) NC_000014.9:67802235:G:T Identity +NM_025114.4:c.3323A>G NP_079390.3:p.Asn1108Ser NC_000012.12:88092818:T:C p.(Asn1108Ser) NC_000012.12:88092818:T:C p.(Asn1108Ser) NC_000012.12:88092818:T:C Identity +NM_001277115.2:c.2570G>A NP_001264044.1:p.Arg857Gln NC_000007.14:21591479:G:A p.(Arg857Gln) NC_000007.14:21591479:G:A p.(Arg857Gln) NC_000007.14:21591479:G:A Identity +NM_001164507.2:c.9154C>T NP_001157979.2:p.Arg3052Trp NC_000002.12:151633913:G:A p.(Arg3052Trp) NC_000002.12:151633913:G:A p.(Arg3052Trp) NC_000002.12:151633913:G:A Identity +NM_007254.4:c.26_27delinsTT NP_009185.2:p.Arg9Leu NC_000019.10:49867177:GC:AA p.(Arg9Leu) NC_000019.10:49867177:GC:AA p.(Arg9Leu) NC_000019.10:49867177:GC:AA Identity +NM_000388.4:c.1288G>T NP_000379.3:p.Ala430Ser NC_000003.12:122262322:G:T p.(Ala430Ser) NC_000003.12:122262322:G:T p.(Ala430Ser) NC_000003.12:122262322:G:T Identity +NM_001122633.3:c.785C>T NP_001116105.2:p.Ala262Val NC_000002.12:210590178:C:T p.(Ala262Val) NC_000002.12:210590178:C:T p.(Ala262Val) NC_000002.12:210590178:C:T Identity +NM_004260.4:c.1936C>A NP_004251.4:p.Arg646Ser NC_000008.11:144514049:G:T p.(Arg646Ser) NC_000008.11:144514049:G:T p.(Arg646Ser) NC_000008.11:144514049:G:T Identity +NM_000328.3:c.1371G>C NP_000319.1:p.Glu457Asp NC_000023.11:38297326:C:G p.(Glu457Asp) NC_000023.11:38297326:C:G p.(Glu457Asp) NC_000023.11:38297326:C:G Identity +NM_001369.3:c.8552T>C NP_001360.1:p.Val2851Ala NC_000005.10:13788810:A:G p.(Val2851Ala) NC_000005.10:13788810:A:G p.(Val2851Ala) NC_000005.10:13788810:A:G Identity +NM_001330347.2:c.905A>C NP_001317276.1:p.His302Pro NC_000011.10:94470582:T:G p.(His302Pro) NC_000011.10:94470582:T:G p.(His302Pro) NC_000011.10:94470582:T:G Identity +NM_000098.3:c.767T>C NP_000089.1:p.Val256Ala NC_000001.11:53210440:T:C p.(Val256Ala) NC_000001.11:53210440:T:C p.(Val256Ala) NC_000001.11:53210440:T:C Identity +NM_001024845.3:c.754G>A NP_001020016.1:p.Val252Met NC_000001.11:44002615:C:T p.(Val252Met) NC_000001.11:44002615:C:T p.(Val252Met) NC_000001.11:44002615:C:T Identity +NM_001365999.1:c.10213C>A NP_001352928.1:p.Pro3405Thr NC_000001.11:43450393:C:A p.(Pro3405Thr) NC_000001.11:43450393:C:A p.(Pro3405Thr) NC_000001.11:43450393:C:A Identity +NM_001278727.2:c.47C>A NP_001265656.1:p.Thr16Asn NC_000019.10:19193992:C:A p.(Thr16Asn) NC_000019.10:19193992:C:A p.(Thr16Asn) NC_000019.10:19193992:C:A Identity +NM_001271938.2:c.7399C>T NP_001258867.1:p.Arg2467Cys NC_000019.10:42375635:C:T p.(Arg2467Cys) NC_000019.10:42375635:C:T p.(Arg2467Cys) NC_000019.10:42375635:C:T Identity +NM_000231.3:c.716C>T NP_000222.2:p.Ala239Val NC_000013.11:23324380:C:T p.(Ala239Val) NC_000013.11:23324380:C:T p.(Ala239Val) NC_000013.11:23324380:C:T Identity +NM_001127178.3:c.2131C>G NP_001120650.1:p.Leu711Val NC_000004.12:527099:C:G p.(Leu711Val) NC_000004.12:527099:C:G p.(Leu711Val) NC_000004.12:527099:C:G Identity +NM_000092.5:c.338G>A NP_000083.3:p.Gly113Asp NC_000002.12:227119928:C:T p.(Gly113Asp) NC_000002.12:227119928:C:T p.(Gly113Asp) NC_000002.12:227119928:C:T Identity +NM_001294332.2:c.1747G>A NP_001281261.1:p.Asp583Asn NC_000005.10:254488:G:A p.(Asp583Asn) NC_000005.10:254488:G:A p.(Asp583Asn) NC_000005.10:254488:G:A Identity +NM_002439.5:c.3244A>G NP_002430.3:p.Ile1082Val NC_000005.10:80873228:A:G p.(Ile1082Val) NC_000005.10:80873228:A:G p.(Ile1082Val) NC_000005.10:80873228:A:G Identity +NM_001081640.2:c.1646C>T NP_001075109.1:p.Ala549Val NC_000008.11:47933149:G:A p.(Ala549Val) NC_000008.11:47933149:G:A p.(Ala549Val) NC_000008.11:47933149:G:A Identity +NM_004055.5:c.175G>A NP_004046.2:p.Glu59Lys NC_000011.10:77093690:G:A p.(Glu59Lys) NC_000011.10:77093690:G:A p.(Glu59Lys) NC_000011.10:77093690:G:A Identity +NM_001256896.2:c.388G>A NP_001243825.1:p.Ala130Thr NC_000004.12:3493303:G:A p.(Ala130Thr) NC_000004.12:3493303:G:A p.(Ala130Thr) NC_000004.12:3493303:G:A Identity +NM_001148.6:c.4618G>C NP_001139.3:p.Ala1540Pro NC_000004.12:113353235:G:C p.(Ala1540Pro) NC_000004.12:113353235:G:C p.(Ala1540Pro) NC_000004.12:113353235:G:C Identity +NM_000719.7:c.5894C>T NP_000710.5:p.Pro1965Leu NC_000012.12:2688555:C:T p.(Pro1965Leu) NC_000012.12:2688555:C:T p.(Pro1965Leu) NC_000012.12:2688555:C:T Identity +NM_001079911.3:c.469C>T NP_001073380.1:p.Arg157Trp NC_000004.12:87662294:C:T p.(Arg157Trp) NC_000004.12:87662294:C:T p.(Arg157Trp) NC_000004.12:87662294:C:T Identity +NM_001286130.2:c.2188C>T NP_001273059.1:p.Arg730Cys NC_000016.10:57916139:G:A p.(Arg730Cys) NC_000016.10:57916139:G:A p.(Arg730Cys) NC_000016.10:57916139:G:A Identity +NM_001005407.2:c.5080G>T NP_001005407.1:p.Glu1694Ter NC_000016.10:1215299:G:T p.(Glu1694Ter) NC_000016.10:1215299:G:T p.(Glu1694Ter) NC_000016.10:1215299:G:T Identity +NM_017890.5:c.8722G>T NP_060360.3:p.Ala2908Ser NC_000008.11:99819436:G:T p.(Ala2908Ser) NC_000008.11:99819436:G:T p.(Ala2908Ser) NC_000008.11:99819436:G:T Identity +NM_000028.3:c.1688delTinsGA NP_000019.2:p.Leu563Argfs NC_000001.11:99879998:T:GA p.(Leu563ArgfsTer8) NC_000001.11:99879998:T:GA p.(Leu563ArgfsTer8) NC_000001.11:99879998:T:GA Analogous +NM_001144769.5:c.8153A>G NP_001138241.1:p.Asn2718Ser NC_000006.12:56557448:T:C p.(Asn2718Ser) NC_000006.12:56557448:T:C p.(Asn2718Ser) NC_000006.12:56557448:T:C Identity +NM_000152.5:c.1253A>G NP_000143.2:p.Lys418Arg NC_000017.11:80108754:A:G p.(Lys418Arg) NC_000017.11:80108754:A:G p.(Lys418Arg) NC_000017.11:80108754:A:G Identity +NM_015072.5:c.2357A>T NP_055887.3:p.Glu786Val NC_000014.9:75776819:A:T p.(Glu786Val) NC_000014.9:75776819:A:T p.(Glu786Val) NC_000014.9:75776819:A:T Identity +NM_001130455.2:c.2341C>T NP_001123927.1:p.Arg781Cys NC_000002.12:71561926:C:T p.(Arg781Cys) NC_000002.12:71561926:C:T p.(Arg781Cys) NC_000002.12:71561926:C:T Identity +NM_001244008.2:c.4340G>A NP_001230937.1:p.Arg1447Gln NC_000002.12:240723536:C:T p.(Arg1447Gln) NC_000002.12:240723536:C:T p.(Arg1447Gln) NC_000002.12:240723536:C:T Identity +NM_014249.4:c.1096G>A NP_055064.1:p.Val366Met NC_000015.10:71814112:G:A p.(Val366Met) NC_000015.10:71814112:G:A p.(Val366Met) NC_000015.10:71814112:G:A Identity +NM_001365684.2:c.736_737delTTinsC NP_001352613.2:p.Phe246Leufs NC_000005.10:177210007:TT:C p.(Phe246SerfsTer18) NC_000005.10:177210007:TTT:TC p.(Phe246LeufsTer18) NC_000005.10:177210007:TT:C Different +NM_001365536.1:c.5350G>C NP_001352465.1:p.Glu1784Gln NC_000002.12:166199288:C:G p.(Glu1784Gln) NC_000002.12:166199288:C:G p.(Glu1784Gln) NC_000002.12:166199288:C:G Identity +NM_001195263.2:c.126C>A NP_001182192.1:p.Tyr42Ter NC_000010.11:101030093:G:T p.(Tyr42Ter) NC_000010.11:101030093:G:T p.(Tyr42Ter) NC_000010.11:101030093:G:T Identity +NM_000038.6:c.2354A>G NP_000029.2:p.His785Arg NC_000005.10:112837947:A:G p.(His785Arg) NC_000005.10:112837947:A:G p.(His785Arg) NC_000005.10:112837947:A:G Identity +NM_000264.5:c.1298C>A NP_000255.2:p.Ser433Tyr NC_000009.12:95478103:G:T p.(Ser433Tyr) NC_000009.12:95478103:G:T p.(Ser433Tyr) NC_000009.12:95478103:G:T Identity +NM_001080413.3:c.974_975dup NP_001073882.3:p.Ala326fs NC_000007.14:144400181:CAC:CACAC p.(Ala326TrpfsTer23) NC_000007.14:144400181:CAC:CACAC p.(Ala326TrpfsTer23) ERR:SPDI Analogous +NM_000540.3:c.12563G>T NP_000531.2:p.Arg4188Leu NC_000019.10:38561392:G:T p.(Arg4188Leu) NC_000019.10:38561392:G:T p.(Arg4188Leu) NC_000019.10:38561392:G:T Identity +NM_000445.5:c.2539G>T NP_000436.2:p.Val847Leu NC_000008.11:143930297:C:A p.(Val847Leu) NC_000008.11:143930297:C:A p.(Val847Leu) NC_000008.11:143930297:C:A Identity +NM_001844.5:c.2198C>A NP_001835.3:p.Ala733Glu NC_000012.12:47982604:G:T p.(Ala733Glu) NC_000012.12:47982604:G:T p.(Ala733Glu) NC_000012.12:47982604:G:T Identity +NM_000264.5:c.2594C>G NP_000255.2:p.Thr865Ser NC_000009.12:95461964:G:C p.(Thr865Ser) NC_000009.12:95461964:G:C p.(Thr865Ser) NC_000009.12:95461964:G:C Identity +NM_000535.7:c.198_213del NP_000526.2:p.Ile66fs NC_000007.14:6004008:ATTGTCTGAAACTTCAAT:AT p.(Ile66MetfsTer5) NC_000007.14:6004008:ATTGTCTGAAACTTCAAT:AT p.(Ile66MetfsTer5) NC_000007.14:6004008:ATTGTCTGAAACTTCA: Analogous +NM_001039885.3:c.725C>T NP_001034974.1:p.Ala242Val NC_000019.10:46756174:C:T p.(Ala242Val) NC_000019.10:46756174:C:T p.(Ala242Val) NC_000019.10:46756174:C:T Identity +NM_016373.4:c.311G>A NP_057457.1:p.Arg104Gln NC_000016.10:78115055:G:A p.(Arg104Gln) NC_000016.10:78115055:G:A p.(Arg104Gln) NC_000016.10:78115055:G:A Identity +NM_004260.4:c.2401G>C NP_004251.4:p.Ala801Pro NC_000008.11:144513279:C:G p.(Ala801Pro) NC_000008.11:144513279:C:G p.(Ala801Pro) NC_000008.11:144513279:C:G Identity +NM_001346897.2:c.641C>T NP_001333826.1:p.Thr214Met NC_000007.14:55154038:C:T p.(Thr214Met) NC_000007.14:55154038:C:T p.(Thr214Met) NC_000007.14:55154038:C:T Identity +NM_000028.3:c.306_308TGG[1] NP_000019.2:p.Gly105del NC_000001.11:99862267:GTGGTGG:GTGG p.(Gly105del) NC_000001.11:99862268:TGG:TGG ERR:Parse ERR:Parse Identity +NM_000393.5:c.1343C>T NP_000384.2:p.Pro448Leu NC_000002.12:189068072:G:A p.(Pro448Leu) NC_000002.12:189068072:G:A p.(Pro448Leu) NC_000002.12:189068072:G:A Identity +NM_001100112.2:c.2729G>T NP_001093582.1:p.Arg910Met NC_000017.11:10530042:C:A p.(Arg910Met) NC_000017.11:10530042:C:A p.(Arg910Met) NC_000017.11:10530042:C:A Identity +NM_000138.5:c.7988G>C NP_000129.3:p.Cys2663Ser NC_000015.10:48415598:C:G p.(Cys2663Ser) NC_000015.10:48415598:C:G p.(Cys2663Ser) NC_000015.10:48415598:C:G Identity +NM_000135.4:c.3754G>C NP_000126.2:p.Glu1252Gln NC_000016.10:89742810:C:G p.(Glu1252Gln) NC_000016.10:89742810:C:G p.(Glu1252Gln) NC_000016.10:89742810:C:G Identity +NM_000135.4:c.3697G>A NP_000126.2:p.Ala1233Thr NC_000016.10:89742867:C:T p.(Ala1233Thr) NC_000016.10:89742867:C:T p.(Ala1233Thr) NC_000016.10:89742867:C:T Identity +NM_001347701.2:c.520G>A NP_001334630.1:p.Ala174Thr NC_000006.12:152155973:C:T p.(Ala174Thr) NC_000006.12:152155973:C:T p.(Ala174Thr) NC_000006.12:152155973:C:T Identity +NM_000342.4:c.2726T>C NP_000333.1:p.Met909Thr NC_000017.11:44250467:A:G p.(Met909Thr) NC_000017.11:44250467:A:G p.(Met909Thr) NC_000017.11:44250467:A:G Identity +NM_138694.4:c.2957A>T NP_619639.3:p.Asp986Val NC_000006.12:52042998:T:A p.(Asp986Val) NC_000006.12:52042998:T:A p.(Asp986Val) NC_000006.12:52042998:T:A Identity +NM_001142800.2:c.3832G>T NP_001136272.1:p.Ala1278Ser NC_000006.12:64593161:C:A p.(Ala1278Ser) NC_000006.12:64593161:C:A p.(Ala1278Ser) NC_000006.12:64593161:C:A Identity +NM_001378454.1:c.169G>A NP_001365383.1:p.Asp57Asn NC_000002.12:73386036:G:A p.(Asp57Asn) NC_000002.12:73386036:G:A p.(Asp57Asn) NC_000002.12:73386036:G:A Identity +NM_025014.2:c.1721C>A NP_079290.1:p.Thr574Lys NC_000017.11:8318402:C:A p.(Thr574Lys) NC_000017.11:8318402:C:A p.(Thr574Lys) NC_000017.11:8318402:C:A Identity +NM_001134771.2:c.386C>T NP_001128243.1:p.Pro129Leu NC_000020.11:46035813:C:T p.(Pro129Leu) NC_000020.11:46035813:C:T p.(Pro129Leu) NC_000020.11:46035813:C:T Identity +NM_001377322.1:c.793G>A NP_001364251.1:p.Gly265Ser NC_000010.11:20785859:C:T p.(Gly265Ser) NC_000010.11:20785859:C:T p.(Gly265Ser) NC_000010.11:20785859:C:T Identity +NM_001042692.3:c.368C>G NP_001036157.1:p.Thr123Arg NC_000002.12:63404637:G:C p.(Thr123Arg) NC_000002.12:63404637:G:C p.(Thr123Arg) NC_000002.12:63404637:G:C Identity +NM_001349370.3:c.2180C>G NP_001336299.1:p.Ser727Cys NC_000003.12:47122323:G:C p.(Ser727Cys) NC_000003.12:47122323:G:C p.(Ser727Cys) NC_000003.12:47122323:G:C Identity +NM_001164097.2:c.4118A>G NP_001157569.1:p.Asn1373Ser NC_000005.10:83540081:A:G p.(Asn1373Ser) NC_000005.10:83540081:A:G p.(Asn1373Ser) NC_000005.10:83540081:A:G Identity +NM_000068.4:c.4064G>A NP_000059.3:p.Arg1355Gln NC_000019.10:13262770:C:T p.(Arg1355Gln) NC_000019.10:13262770:C:T p.(Arg1355Gln) NC_000019.10:13262770:C:T Identity +NM_005045.4:c.667A>G NP_005036.2:p.Asn223Asp NC_000007.14:103728196:T:C p.(Asn223Asp) NC_000007.14:103728196:T:C p.(Asn223Asp) NC_000007.14:103728196:T:C Identity +NM_178862.3:c.2072G>A NP_849193.1:p.Arg691Gln NC_000003.12:31626125:G:A p.(Arg691Gln) NC_000003.12:31626125:G:A p.(Arg691Gln) NC_000003.12:31626125:G:A Identity +NM_001305275.2:c.1996C>G NP_001292204.1:p.Gln666Glu NC_000001.11:1044019:C:G p.(Gln666Glu) NC_000001.11:1044019:C:G p.(Gln666Glu) NC_000001.11:1044019:C:G Identity +NM_000434.4:c.386A>G NP_000425.1:p.Asn129Ser NC_000006.12:31861416:T:C p.(Asn129Ser) NC_000006.12:31861416:T:C p.(Asn129Ser) NC_000006.12:31861416:T:C Identity +NM_001128844.3:c.4821C>G NP_001122316.1:p.Asp1607Glu NC_000019.10:11060096:C:G p.(Asp1607Glu) NC_000019.10:11060096:C:G p.(Asp1607Glu) NC_000019.10:11060096:C:G Identity +NM_001144769.5:c.10894C>T NP_001138241.1:p.Gln3632Ter NC_000006.12:56529990:G:A p.(Gln3632Ter) NC_000006.12:56529990:G:A p.(Gln3632Ter) NC_000006.12:56529990:G:A Identity +NM_001369.3:c.10041G>T NP_001360.1:p.Met3347Ile NC_000005.10:13766035:C:A p.(Met3347Ile) NC_000005.10:13766035:C:A p.(Met3347Ile) NC_000005.10:13766035:C:A Identity +NM_001130145.3:c.1015A>G NP_001123617.1:p.Asn339Asp NC_000011.10:102209546:A:G p.(Asn339Asp) NC_000011.10:102209546:A:G p.(Asn339Asp) NC_000011.10:102209546:A:G Identity +NM_206933.4:c.5266G>A NP_996816.3:p.Val1756Ile NC_000001.11:216083487:C:T p.(Val1756Ile) NC_000001.11:216083487:C:T p.(Val1756Ile) NC_000001.11:216083487:C:T Identity +NM_004064.5:c.154A>G NP_004055.1:p.Met52Val NC_000012.12:12717992:A:G p.(Met52Val) NC_000012.12:12717992:A:G p.(Met52Val) NC_000012.12:12717992:A:G Identity +NM_207352.4:c.1067A>T NP_997235.3:p.Asp356Val NC_000004.12:186205278:A:T p.(Asp356Val) NC_000004.12:186205278:A:T p.(Asp356Val) NC_000004.12:186205278:A:T Identity +NM_003673.4:c.137A>G NP_003664.1:p.Gln46Arg NC_000017.11:39665741:A:G p.(Gln46Arg) NC_000017.11:39665741:A:G p.(Gln46Arg) NC_000017.11:39665741:A:G Identity +NM_001007792.1:c.586G>A NP_001007793.1:p.Gly196Ser NC_000001.11:156868605:G:A p.(Gly196Ser) NC_000001.11:156868605:G:A p.(Gly196Ser) NC_000001.11:156868605:G:A Identity +NM_001354927.2:c.1729G>T NP_001341856.1:p.Ala577Ser NC_000009.12:35059632:C:A p.(Ala577Ser) NC_000009.12:35059632:C:A p.(Ala577Ser) NC_000009.12:35059632:C:A Identity +NM_001136271.3:c.181G>A NP_001129743.2:p.Gly61Ser NC_000008.11:23706417:C:T p.(Gly61Ser) NC_000008.11:23706417:C:T p.(Gly61Ser) NC_000008.11:23706417:C:T Identity +NM_152383.5:c.2576G>A NP_689596.4:p.Arg859Gln NC_000002.12:232336547:G:A p.(Arg859Gln) NC_000002.12:232336547:G:A p.(Arg859Gln) NC_000002.12:232336547:G:A Identity +NM_001363147.1:c.632C>T NP_001350076.1:p.Ala211Val NC_000005.10:71632127:C:T p.(Ala211Val) NC_000005.10:71632127:C:T p.(Ala211Val) NC_000005.10:71632127:C:T Identity +NM_001943.5:c.2504_2505inv NP_001934.2:p.Thr835Met NC_000018.10:31545889:CA:TG p.(Thr835Met) NC_000018.10:31545889:CA:TG p.(Thr835Met) ERR:SPDI Identity +NM_001127897.4:c.2104G>A NP_001121369.1:p.Glu702Lys NC_000016.10:53652582:C:T p.(Glu702Lys) NC_000016.10:53652582:C:T p.(Glu702Lys) NC_000016.10:53652582:C:T Identity +NM_001354346.2:c.307T>C NP_001341275.1:p.Cys103Arg NC_000012.12:7090214:A:G p.(Cys103Arg) NC_000012.12:7090214:A:G p.(Cys103Arg) NC_000012.12:7090214:A:G Identity +NM_000545.8:c.503G>A NP_000536.6:p.Arg168His NC_000012.12:120989008:G:A p.(Arg168His) NC_000012.12:120989008:G:A p.(Arg168His) NC_000012.12:120989008:G:A Identity +NM_000162.5:c.709G>A NP_000153.1:p.Glu237Lys NC_000007.14:44147803:C:T p.(Glu237Lys) NC_000007.14:44147803:C:T p.(Glu237Lys) NC_000007.14:44147803:C:T Identity +NM_000296.4:c.3483G>T NP_000287.4:p.Trp1161Cys NC_000016.10:2111683:C:A p.(Trp1161Cys) NC_000016.10:2111683:C:A p.(Trp1161Cys) NC_000016.10:2111683:C:A Identity +NM_001272003.2:c.3581G>A NP_001258932.1:p.Cys1194Tyr NC_000009.12:135792105:G:A p.(Cys1194Tyr) NC_000009.12:135792105:G:A p.(Cys1194Tyr) NC_000009.12:135792105:G:A Identity +NM_000531.6:c.85C>G NP_000522.3:p.Gln29Glu NC_000023.11:38367297:C:G p.(Gln29Glu) NC_000023.11:38367297:C:G p.(Gln29Glu) NC_000023.11:38367297:C:G Identity +NM_016306.6:c.400del NP_057390.1:p.Ile134fs NC_000003.12:186577743:A: p.(Ile134LeufsTer3) NC_000003.12:186577743:A: p.(Ile134LeufsTer3) NC_000003.12:186577743:A: Analogous +NM_000545.8:c.1855G>A NP_000536.6:p.Glu619Lys NC_000012.12:121001150:G:A p.(Glu619Lys) NC_000012.12:121001150:G:A p.(Glu619Lys) NC_000012.12:121001150:G:A Identity +NM_000152.5:c.1943G>A NP_000143.2:p.Gly648Asp NC_000017.11:80112929:G:A p.(Gly648Asp) NC_000017.11:80112929:G:A p.(Gly648Asp) NC_000017.11:80112929:G:A Identity +NM_016604.4:c.3165C>G NP_057688.3:p.Asp1055Glu NC_000005.10:138399977:C:G p.(Asp1055Glu) NC_000005.10:138399977:C:G p.(Asp1055Glu) NC_000005.10:138399977:C:G Identity +NM_001256182.2:c.1677G>A NP_001243111.1:p.Trp559Ter NC_000016.10:89284864:C:T p.(Trp559Ter) NC_000016.10:89284864:C:T p.(Trp559Ter) NC_000016.10:89284864:C:T Identity +NM_001173479.2:c.16G>A NP_001166950.1:p.Gly6Ser NC_000023.11:63785129:C:T p.(Gly6Ser) NC_000023.11:63785129:C:T p.(Gly6Ser) NC_000023.11:63785129:C:T Identity +NM_001378923.1:c.1931C>T NP_001365852.1:p.Ser644Leu NC_000009.12:35805544:C:T p.(Ser644Leu) NC_000009.12:35805544:C:T p.(Ser644Leu) NC_000009.12:35805544:C:T Identity +NM_001363725.2:c.4324del NP_001350654.1:p.Gln1442fs NC_000006.12:157207594:C: p.(Gln1442ArgfsTer8) NC_000006.12:157207594:C: p.(Gln1442ArgfsTer8) NC_000006.12:157207594:C: Analogous +NM_015335.5:c.995A>G NP_056150.1:p.Glu332Gly NC_000012.12:116019237:T:C p.(Glu332Gly) NC_000012.12:116019237:T:C p.(Glu332Gly) NC_000012.12:116019237:T:C Identity +NM_206933.4:c.6103T>G NP_996816.3:p.Cys2035Gly NC_000001.11:216048593:A:C p.(Cys2035Gly) NC_000001.11:216048593:A:C p.(Cys2035Gly) NC_000001.11:216048593:A:C Identity +NM_001282531.3:c.82_85del NP_001269460.1:p.Leu28fs NC_000020.11:50903911:CCAACC:CC p.(Leu28AsnfsTer7) NC_000020.11:50903911:CCAACC:CC p.(Leu28AsnfsTer7) NC_000020.11:50903911:CCAA: Analogous +NM_030632.3:c.4039G>A NP_085135.1:p.Gly1347Arg NC_000018.10:33743886:G:A p.(Gly1347Arg) NC_000018.10:33743886:G:A p.(Gly1347Arg) NC_000018.10:33743886:G:A Identity +NM_001363725.2:c.746G>T NP_001350654.1:p.Gly249Val NC_000006.12:157174016:G:T p.(Gly249Val) NC_000006.12:157174016:G:T p.(Gly249Val) NC_000006.12:157174016:G:T Identity +NM_001184985.2:c.3271_3274del NP_001171914.1:p.Thr1091fs NC_000012.12:868993:CAGACAG:CAG p.(Thr1091CysfsTer21) NC_000012.12:868993:CAGACAG:CAG p.(Thr1091CysfsTer21) NC_000012.12:868996:ACAG: Analogous +NM_015335.5:c.1077_1093del NP_056150.1:p.Met359fs NC_000012.12:116015190:ATCTCTTTGGACTGTGCATC:ATC p.(Met359IlefsTer38) NC_000012.12:116015190:ATCTCTTTGGACTGTGCATC:ATC p.(Met359IlefsTer38) NC_000012.12:116015190:ATCTCTTTGGACTGTGC: Analogous +NM_001349614.1:c.1121_1123delinsGTGCTGC NP_001336543.1:p.Pro374fs NC_000001.11:7738348:CTT:GTGCTGC p.(Ser375CysfsTer17) NC_000001.11:7738348:CTTC:CGTGCTGC p.(Pro374ArgfsTer18) NC_000001.11:7738348:CTT:GTGCTGC Analogous +NM_001032221.6:c.1381_1390dup NP_001027392.1:p.Arg464fs NC_000009.12:127678443:GCCGGAGCAAGCCGGAGC:GCCGGAGCAAGCCGGAGCAAGCCGGAGC p.(Arg464GlnfsTer31) NC_000009.12:127678443:GCCGGAGCAAGCCGGAGC:GCCGGAGCAAGCCGGAGCAAGCCGGAGC p.(Arg464GlnfsTer31) ERR:SPDI Analogous +NM_000251.3:c.1082del NP_000242.1:p.Asn361fs NC_000002.12:47429745:AA:A p.(Asn361IlefsTer2) NC_000002.12:47429745:AA:A p.(Asn361IlefsTer2) NC_000002.12:47429746:A: Analogous +NM_000436.4:c.148G>A NP_000427.1:p.Val50Ile NC_000005.10:41862680:C:T p.(Val50Ile) NC_000005.10:41862680:C:T p.(Val50Ile) NC_000005.10:41862680:C:T Identity +NM_014362.4:c.632G>T NP_055177.2:p.Gly211Val NC_000002.12:190252192:C:A p.(Gly211Val) NC_000002.12:190252192:C:A p.(Gly211Val) NC_000002.12:190252192:C:A Identity +NM_000492.4:c.3388G>C NP_000483.3:p.Gly1130Arg NC_000007.14:117614632:G:C p.(Gly1130Arg) NC_000007.14:117614632:G:C p.(Gly1130Arg) NC_000007.14:117614632:G:C Identity +NM_001079846.1:c.5243G>A NP_001073315.1:p.Arg1748His NC_000016.10:3729689:C:T p.(Arg1748His) NC_000016.10:3729689:C:T p.(Arg1748His) NC_000016.10:3729689:C:T Identity +NM_000264.5:c.715G>A NP_000255.2:p.Ala239Thr NC_000009.12:95481979:C:T p.(Ala239Thr) NC_000009.12:95481979:C:T p.(Ala239Thr) NC_000009.12:95481979:C:T Identity +NM_000381.4:c.388G>A NP_000372.1:p.Ala130Thr NC_000023.11:10567159:C:T p.(Ala130Thr) NC_000023.11:10567159:C:T p.(Ala130Thr) NC_000023.11:10567159:C:T Identity +NM_000292.3:c.869G>A NP_000283.1:p.Arg290His NC_000023.11:18940043:C:T p.(Arg290His) NC_000023.11:18940043:C:T p.(Arg290His) NC_000023.11:18940043:C:T Identity +NM_001261427.3:c.2129G>A NP_001248356.1:p.Gly710Asp NC_000002.12:11805125:G:A p.(Gly710Asp) NC_000002.12:11805125:G:A p.(Gly710Asp) NC_000002.12:11805125:G:A Identity +NM_000249.4:c.446dup NP_000240.1:p.Ile150fs NC_000003.12:37007055:A:AA p.(Ile150AspfsTer22) NC_000003.12:37007055:A:AA p.(Ile150AspfsTer22) ERR:SPDI Analogous +NM_004813.4:c.710T>G NP_004804.2:p.Leu237Arg NC_000011.10:45914187:A:C p.(Leu237Arg) NC_000011.10:45914187:A:C p.(Leu237Arg) NC_000011.10:45914187:A:C Identity +NM_000255.4:c.1218del NP_000246.2:p.Asn407fs NC_000006.12:49451579:CC:C p.(Asn407ThrfsTer24) NC_000006.12:49451579:CC:C p.(Asn407ThrfsTer24) NC_000006.12:49451579:C: Analogous +NM_000263.4:c.291T>G NP_000254.2:p.Cys97Trp NC_000017.11:42536562:T:G p.(Cys97Trp) NC_000017.11:42536562:T:G p.(Cys97Trp) NC_000017.11:42536562:T:G Identity +NM_001136139.4:c.473G>A NP_001129611.1:p.Arg158Gln NC_000019.10:1625601:C:T p.(Arg158Gln) NC_000019.10:1625601:C:T p.(Arg158Gln) NC_000019.10:1625601:C:T Identity +NM_016327.3:c.358G>T NP_057411.1:p.Ala120Ser NC_000022.11:24502206:G:T p.(Ala120Ser) NC_000022.11:24502206:G:T p.(Ala120Ser) NC_000022.11:24502206:G:T Identity +NM_000443.4:c.874A>T NP_000434.1:p.Lys292Ter NC_000007.14:87447164:T:A p.(Lys292Ter) NC_000007.14:87447164:T:A p.(Lys292Ter) NC_000007.14:87447164:T:A Identity +NM_002872.5:c.203G>A NP_002863.1:p.Arg68Gln NC_000022.11:37232822:C:T p.(Arg68Gln) NC_000022.11:37232822:C:T p.(Arg68Gln) NC_000022.11:37232822:C:T Identity +NM_001127708.3:c.3339_3342del NP_001121180.2:p.Thr1114fs NC_000001.11:186309828:GACTGACT:GACT p.(Thr1114LeufsTer7) NC_000001.11:186309828:GACTGACT:GACT p.(Thr1114LeufsTer7) NC_000001.11:186309832:GACT: Analogous +NM_001301732.3:c.2714C>T NP_001288661.2:p.Pro905Leu NC_000014.9:49789263:G:A p.(Pro905Leu) NC_000014.9:49789263:G:A p.(Pro905Leu) NC_000014.9:49789263:G:A Identity +NM_001193640.2:c.2302A>G NP_001180569.1:p.Asn768Asp NC_000001.11:197427962:A:G p.(Asn768Asp) NC_000001.11:197427962:A:G p.(Asn768Asp) NC_000001.11:197427962:A:G Identity +NM_001378183.1:c.8395C>G NP_001365112.1:p.Arg2799Gly NC_000018.10:10671729:G:C p.(Arg2799Gly) NC_000018.10:10671729:G:C p.(Arg2799Gly) NC_000018.10:10671729:G:C Identity +NM_000329.3:c.1440AGA[1] NP_000320.1:p.Glu481del NC_000001.11:68431069:TCTTCTTC:TCTTC p.(Glu481del) NC_000001.11:68431074:T:TCT ERR:Parse ERR:Parse Identity +NM_000138.5:c.3921T>G NP_000129.3:p.Cys1307Trp NC_000015.10:48481697:A:C p.(Cys1307Trp) NC_000015.10:48481697:A:C p.(Cys1307Trp) NC_000015.10:48481697:A:C Identity +NM_001142864.4:c.6964G>T NP_001136336.2:p.Glu2322Ter NC_000016.10:88716445:C:A p.(Glu2322Ter) NC_000016.10:88716445:C:A p.(Glu2322Ter) NC_000016.10:88716445:C:A Identity +NM_000296.4:c.1810C>T NP_000287.4:p.Gln604Ter NC_000016.10:2116030:G:A p.(Gln604Ter) NC_000016.10:2116030:G:A p.(Gln604Ter) NC_000016.10:2116030:G:A Identity +NM_000091.5:c.2987_2993del NP_000082.2:p.Arg996fs NC_000002.12:227290003:AGAGGAGA:A p.(Arg996IlefsTer156) NC_000002.12:227290003:AGAGGAGA:A p.(Arg996IlefsTer156) NC_000002.12:227290004:GAGGAGA: Analogous +NM_000278.5:c.493_495delinsTCTTCCCTGA NP_000269.3:p.Ile165fs NC_000010.11:100779579:ATT:TCTTCCCTGA p.(Ile165SerfsTer18) NC_000010.11:100779579:ATT:TCTTCCCTGA p.(Ile165SerfsTer18) NC_000010.11:100779579:ATT:TCTTCCCTGA Analogous +NM_001110792.2:c.1193_1222delinsA NP_001104262.1:p.Leu398fs NC_000023.11:154030641:AGCTCTCGGGCTCAGGTGGAGGTGGGGGCA:T p.(Leu398HisfsTer9) NC_000023.11:154030641:AGCTCTCGGGCTCAGGTGGAGGTGGGGGCA:T p.(Leu398HisfsTer9) NC_000023.11:154030641:AGCTCTCGGGCTCAGGTGGAGGTGGGGGCA:T Analogous +NM_000789.4:c.2049C>A NP_000780.1:p.Ser683Arg NC_000017.11:63485362:C:A p.(Ser683Arg) NC_000017.11:63485362:C:A p.(Ser683Arg) NC_000017.11:63485362:C:A Identity +NM_001845.6:c.3112G>A NP_001836.3:p.Gly1038Ser NC_000013.11:110175303:C:T p.(Gly1038Ser) NC_000013.11:110175303:C:T p.(Gly1038Ser) NC_000013.11:110175303:C:T Identity +NM_000296.4:c.4550dup NP_000287.4:p.Tyr1517Ter NC_000016.10:2110616:T:TT p.(Tyr1517Ter) NC_000016.10:2110616:T:TT p.(Tyr1517Ter) ERR:SPDI Identity +NM_000495.5:c.1234G>C NP_000486.1:p.Gly412Arg NC_000023.11:108591125:G:C p.(Gly412Arg) NC_000023.11:108591125:G:C p.(Gly412Arg) NC_000023.11:108591125:G:C Identity +NM_138694.4:c.5903T>G NP_619639.3:p.Ile1968Ser NC_000006.12:51959874:A:C p.(Ile1968Ser) NC_000006.12:51959874:A:C p.(Ile1968Ser) NC_000006.12:51959874:A:C Identity +NM_000180.4:c.2338T>C NP_000171.1:p.Cys780Arg NC_000017.11:8013953:T:C p.(Cys780Arg) NC_000017.11:8013953:T:C p.(Cys780Arg) NC_000017.11:8013953:T:C Identity +NM_001174063.2:c.289G>C NP_001167534.1:p.Gly97Arg NC_000008.11:38429750:C:G p.(Gly97Arg) NC_000008.11:38429750:C:G p.(Gly97Arg) NC_000008.11:38429750:C:G Identity +NM_001257197.2:c.1160dup NP_001244126.1:p.Asn387fs NC_000002.12:224503670:TTTTTTT:TTTTTTTT p.(Asn387LysfsTer5) NC_000002.12:224503670:TTTTTTT:TTTTTTTT p.(Asn387LysfsTer5) ERR:SPDI Analogous +NM_001032221.6:c.624del NP_001027392.1:p.Lys208fs NC_000009.12:127665291:G: p.(Lys208AsnfsTer24) NC_000009.12:127665291:G: p.(Lys208AsnfsTer24) NC_000009.12:127665291:G: Analogous +NM_000180.4:c.3211dup NP_000171.1:p.Asp1071fs NC_000017.11:8016276:G:GG p.(Asp1071GlyfsTer61) NC_000017.11:8016276:G:GG p.(Asp1071GlyfsTer61) ERR:SPDI Analogous +NM_001008537.3:c.791_792del NP_001008537.1:p.Phe264fs NC_000023.11:74743764:AAAA:AA p.(Phe264TyrfsTer2) NC_000023.11:74743764:AAAA:AA p.(Phe264TyrfsTer2) NC_000023.11:74743764:AA: Analogous +NM_000296.4:c.8998C>T NP_000287.4:p.Arg3000Cys NC_000016.10:2102583:G:A p.(Arg3000Cys) NC_000016.10:2102583:G:A p.(Arg3000Cys) NC_000016.10:2102583:G:A Identity +NM_000180.4:c.743C>T NP_000171.1:p.Ser248Leu NC_000017.11:8003872:C:T p.(Ser248Leu) NC_000017.11:8003872:C:T p.(Ser248Leu) NC_000017.11:8003872:C:T Identity +NM_001033054.3:c.584G>A NP_001028226.1:p.Arg195Gln NC_000017.11:6426625:C:T p.(Arg195Gln) NC_000017.11:6426625:C:T p.(Arg195Gln) NC_000017.11:6426625:C:T Identity +NM_001003694.2:c.67T>C NP_001003694.1:p.Cys23Arg NC_000003.12:9734206:T:C p.(Cys23Arg) NC_000003.12:9734206:T:C p.(Cys23Arg) NC_000003.12:9734206:T:C Identity +NM_005577.4:c.5673A>G NP_005568.2:p.Ile1891Met NC_000006.12:160540104:T:C p.(Ile1891Met) NC_000006.12:160540104:T:C p.(Ile1891Met) NC_000006.12:160540104:T:C Identity +NM_024685.4:c.1337_1338del NP_078961.3:p.Phe446fs NC_000012.12:76346646:AAAAA:AAA p.(Phe446TyrfsTer3) NC_000012.12:76346646:AAAAA:AAA p.(Phe446TyrfsTer3) NC_000012.12:76346646:AA: Analogous +NM_001256182.2:c.2618_2619del NP_001243111.1:p.Val873fs NC_000016.10:89283922:CACA:CA p.(Val873GlyfsTer42) NC_000016.10:89283922:CACA:CA p.(Val873GlyfsTer42) NC_000016.10:89283922:CA: Analogous +NM_001244008.2:c.556G>T NP_001230937.1:p.Val186Phe NC_000002.12:240786386:C:A p.(Val186Phe) NC_000002.12:240786386:C:A p.(Val186Phe) NC_000002.12:240786386:C:A Identity +NM_000409.5:c.312C>A NP_000400.2:p.Asn104Lys NC_000006.12:42178389:C:A p.(Asn104Lys) NC_000006.12:42178389:C:A p.(Asn104Lys) NC_000006.12:42178389:C:A Identity +NM_001034853.2:c.2098_2101del NP_001030025.1:p.Glu700fs NC_000023.11:38286897:CTTCCTTC:CTTC p.(Glu700AsnfsTer114) NC_000023.11:38286897:CTTCCTTC:CTTC p.(Glu700AsnfsTer114) NC_000023.11:38286897:CTTC: Analogous +NM_001190458.2:c.4228C>G NP_001177387.1:p.Gln1410Glu NC_000009.12:429755:C:G p.(Gln1410Glu) NC_000009.12:429755:C:G p.(Gln1410Glu) NC_000009.12:429755:C:G Identity +NM_004774.4:c.638C>T NP_004765.2:p.Pro213Leu NC_000017.11:39431125:G:A p.(Pro213Leu) NC_000017.11:39431125:G:A p.(Pro213Leu) NC_000017.11:39431125:G:A Identity +NM_000153.4:c.165C>G NP_000144.2:p.Phe55Leu NC_000014.9:87992999:G:C p.(Phe55Leu) NC_000014.9:87992999:G:C p.(Phe55Leu) NC_000014.9:87992999:G:C Identity +NM_001308093.3:c.1036G>A NP_001295022.1:p.Gly346Ser NC_000008.11:11756969:G:A p.(Gly346Ser) NC_000008.11:11756969:G:A p.(Gly346Ser) NC_000008.11:11756969:G:A Identity +NM_000159.4:c.484C>G NP_000150.1:p.Gln162Glu NC_000019.10:12893631:C:G p.(Gln162Glu) NC_000019.10:12893631:C:G p.(Gln162Glu) NC_000019.10:12893631:C:G Identity +NM_001161504.2:c.158G>A NP_001154976.1:p.Arg53Gln NC_000001.11:18885587:C:T p.(Arg53Gln) NC_000001.11:18885587:C:T p.(Arg53Gln) NC_000001.11:18885587:C:T Identity +NM_001303052.2:c.1516T>C NP_001289981.1:p.Cys506Arg NC_000002.12:1917306:A:G p.(Cys506Arg) NC_000002.12:1917306:A:G p.(Cys506Arg) NC_000002.12:1917306:A:G Identity +NM_001126054.3:c.616G>A NP_001119526.1:p.Gly206Ser NC_000023.11:41665368:C:T p.(Gly206Ser) NC_000023.11:41665368:C:T p.(Gly206Ser) NC_000023.11:41665368:C:T Identity +NM_003542.4:c.274A>C NP_003533.1:p.Lys92Gln NC_000006.12:26104220:A:C p.(Lys92Gln) NC_000006.12:26104220:A:C p.(Lys92Gln) NC_000006.12:26104220:A:C Identity +NM_000435.3:c.2809G>C NP_000426.2:p.Gly937Arg NC_000019.10:15181145:C:G p.(Gly937Arg) NC_000019.10:15181145:C:G p.(Gly937Arg) NC_000019.10:15181145:C:G Identity +NM_133259.4:c.965C>T NP_573566.2:p.Ser322Leu NC_000002.12:43974657:G:A p.(Ser322Leu) NC_000002.12:43974657:G:A p.(Ser322Leu) NC_000002.12:43974657:G:A Identity +NM_005121.3:c.3796A>G NP_005112.2:p.Lys1266Glu NC_000017.11:61982206:T:C p.(Lys1266Glu) NC_000017.11:61982206:T:C p.(Lys1266Glu) NC_000017.11:61982206:T:C Identity +NM_001005505.3:c.391G>A NP_001005505.1:p.Val131Met NC_000003.12:50434326:C:T p.(Val131Met) NC_000003.12:50434326:C:T p.(Val131Met) NC_000003.12:50434326:C:T Identity +NM_001126131.2:c.316C>T NP_001119603.1:p.His106Tyr NC_000015.10:89333438:G:A p.(His106Tyr) NC_000015.10:89333438:G:A p.(His106Tyr) NC_000015.10:89333438:G:A Identity +NM_001304438.2:c.2474C>T NP_001291367.1:p.Pro825Leu NC_000017.11:34637480:C:T p.(Pro825Leu) NC_000017.11:34637480:C:T p.(Pro825Leu) NC_000017.11:34637480:C:T Identity +NM_001918.5:c.252G>T NP_001909.4:p.Trp84Cys NC_000001.11:100230913:C:A p.(Trp84Cys) NC_000001.11:100230913:C:A p.(Trp84Cys) NC_000001.11:100230913:C:A Identity +NM_015384.5:c.479C>T NP_056199.2:p.Thr160Ile NC_000005.10:36962142:C:T p.(Thr160Ile) NC_000005.10:36962142:C:T p.(Thr160Ile) NC_000005.10:36962142:C:T Identity +NM_000384.3:c.3927T>A NP_000375.3:p.Asp1309Glu NC_000002.12:21013448:A:T p.(Asp1309Glu) NC_000002.12:21013448:A:T p.(Asp1309Glu) NC_000002.12:21013448:A:T Identity +NM_000702.4:c.963C>G NP_000693.1:p.Phe321Leu NC_000001.11:160127765:C:G p.(Phe321Leu) NC_000001.11:160127765:C:G p.(Phe321Leu) NC_000001.11:160127765:C:G Identity +NM_001142864.4:c.4885G>A NP_001136336.2:p.Gly1629Arg NC_000016.10:88722287:C:T p.(Gly1629Arg) NC_000016.10:88722287:C:T p.(Gly1629Arg) NC_000016.10:88722287:C:T Identity +NM_001378120.1:c.3987del NP_001365049.1:p.Ser1330fs NC_000002.12:148489617:CC:C p.(Ser1330AlafsTer24) NC_000002.12:148489617:CC:C p.(Ser1330AlafsTer24) NC_000002.12:148489618:C: Analogous +NM_001040142.2:c.5046_5048delinsGG NP_001035232.1:p.Phe1682fs NC_000002.12:165388851:TGC:GG p.(Phe1682LeufsTer23) NC_000002.12:165388851:TGC:GG p.(Phe1682LeufsTer23) NC_000002.12:165388851:TGC:GG Analogous +NM_001040142.2:c.3440A>G NP_001035232.1:p.Asp1147Gly NC_000002.12:165365182:A:G p.(Asp1147Gly) NC_000002.12:165365182:A:G p.(Asp1147Gly) NC_000002.12:165365182:A:G Identity +NM_000169.3:c.350T>G NP_000160.1:p.Ile117Ser NC_000023.11:101403829:A:C p.(Ile117Ser) NC_000023.11:101403829:A:C p.(Ile117Ser) NC_000023.11:101403829:A:C Identity +NM_001271534.3:c.4548T>G NP_001258463.1:p.Phe1516Leu NC_000021.9:40078849:A:C p.(Phe1516Leu) NC_000021.9:40078849:A:C p.(Phe1516Leu) NC_000021.9:40078849:A:C Identity +NM_001366177.2:c.176A>G NP_001353106.1:p.Glu59Gly NC_000001.11:155521343:T:C p.(Glu59Gly) NC_000001.11:155521343:T:C p.(Glu59Gly) NC_000001.11:155521343:T:C Identity +NM_001079846.1:c.3328C>G NP_001073315.1:p.Gln1110Glu NC_000016.10:3757975:G:C p.(Gln1110Glu) NC_000016.10:3757975:G:C p.(Gln1110Glu) NC_000016.10:3757975:G:C Identity +NM_020987.5:c.5204G>T NP_066267.2:p.Cys1735Phe NC_000010.11:60075676:C:A p.(Cys1735Phe) NC_000010.11:60075676:C:A p.(Cys1735Phe) NC_000010.11:60075676:C:A Identity +NM_005321.3:c.365dup NP_005312.1:p.Ala123fs NC_000006.12:26156750:AAAAA:AAAAAA p.(Ala123GlyfsTer73) NC_000006.12:26156750:AAAAA:AAAAAA p.(Ala123GlyfsTer73) ERR:SPDI Analogous +LRG_1425t1:c.2507G>A LRG_1425p1:p.Arg836His NC_000015.10:92974879:G:A ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1425t1, alt_ac=LRG_1425t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1425t1 not found +NM_001145320.2:c.286C>T NP_001138792.1:p.Arg96Trp NC_000009.12:133538400:C:T p.(Arg96Trp) NC_000009.12:133538400:C:T p.(Arg96Trp) NC_000009.12:133538400:C:T Identity +NM_000296.4:c.1232_1251dup NP_000287.4:p.His418fs NC_000016.10:2117622:CCCGTTGCCAGGGAAGATCTCC:CCCGTTGCCAGGGAAGATCTCCCGTTGCCAGGGAAGATCTCC p.(His418ArgfsTer54) NC_000016.10:2117622:CCCGTTGCCAGGGAAGATCTCC:CCCGTTGCCAGGGAAGATCTCCCGTTGCCAGGGAAGATCTCC p.(His418ArgfsTer54) ERR:SPDI Analogous +NM_000297.4:c.1178_1227dup NP_000288.1:p.Lys410fs NC_000004.12:88043313:TCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTC:TCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTC p.(Lys410TrpfsTer59) NC_000004.12:88043313:TCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTC:TCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTC p.(Lys410TrpfsTer59) ERR:SPDI Analogous +NM_001366177.2:c.7991G>A NP_001353106.1:p.Arg2664His NC_000001.11:155344187:C:T p.(Arg2664His) NC_000001.11:155344187:C:T p.(Arg2664His) NC_000001.11:155344187:C:T Identity +NM_001370598.1:c.2231C>T NP_001357527.1:p.Ser744Leu NC_000012.12:111320425:C:T p.(Ser744Leu) NC_000012.12:111320425:C:T p.(Ser744Leu) NC_000012.12:111320425:C:T Identity +NM_001958.5:c.1138G>C NP_001949.1:p.Asp380His NC_000020.11:63489043:C:G p.(Asp380His) NC_000020.11:63489043:C:G p.(Asp380His) NC_000020.11:63489043:C:G Identity +NM_006059.4:c.904G>A NP_006050.3:p.Glu302Lys NC_000009.12:131036259:G:A p.(Glu302Lys) NC_000009.12:131036259:G:A p.(Glu302Lys) NC_000009.12:131036259:G:A Identity +NM_001367830.1:c.6191C>G NP_001354759.1:p.Thr2064Ser NC_000019.10:11200322:G:C p.(Thr2064Ser) NC_000019.10:11200322:G:C p.(Thr2064Ser) NC_000019.10:11200322:G:C Identity +NM_000263.4:c.76G>T NP_000254.2:p.Ala26Ser NC_000017.11:42536347:G:T p.(Ala26Ser) NC_000017.11:42536347:G:T p.(Ala26Ser) NC_000017.11:42536347:G:T Identity +NM_001300963.2:c.414G>C NP_001287892.1:p.Trp138Cys NC_000006.12:110632081:C:G p.(Trp138Cys) NC_000006.12:110632081:C:G p.(Trp138Cys) NC_000006.12:110632081:C:G Identity +NM_001282531.3:c.1123G>A NP_001269460.1:p.Gly375Arg NC_000020.11:50893590:C:T p.(Gly375Arg) NC_000020.11:50893590:C:T p.(Gly375Arg) NC_000020.11:50893590:C:T Identity +NM_006015.6:c.3197_3198insAA NP_006006.3:p.Val1067fs NC_000001.11:26767997:A:AAA p.(Val1067ArgfsTer27) NC_000001.11:26767997:A:AA p.(Val1067ArgfsTer27) NC_000001.11:26767998:AG:AA Analogous +LRG_1108t1:c.555del LRG_1108p1:p.Arg185fs NC_000003.12:41225392:A: ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found ERR:AlignmentMapper(tx_ac=LRG_1108t1, alt_ac=LRG_1108t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1108t1, alt_ac=LRG_1108t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found +NM_001347839.2:c.2233C>G NP_001334768.1:p.Gln745Glu NC_000012.12:45850355:C:G p.(Gln745Glu) NC_000012.12:45850355:C:G p.(Gln745Glu) NC_000012.12:45850355:C:G Identity +NM_020361.5:c.1121C>T NP_065094.3:p.Thr374Met NC_000008.11:67428051:G:A p.(Thr374Met) NC_000008.11:67428051:G:A p.(Thr374Met) NC_000008.11:67428051:G:A Identity +NM_001363864.1:c.1181T>A NP_001350793.1:p.Met394Lys NC_000002.12:60461628:A:T p.(Met394Lys) NC_000002.12:60461628:A:T p.(Met394Lys) NC_000002.12:60461628:A:T Identity +NM_001032221.6:c.1277T>G NP_001027392.1:p.Leu426Arg NC_000009.12:127676670:T:G p.(Leu426Arg) NC_000009.12:127676670:T:G p.(Leu426Arg) NC_000009.12:127676670:T:G Identity +NM_001291415.2:c.3426_3429del NP_001278344.1:p.Ser1143fs NC_000023.11:45082772:CTATCT:CT p.(Ser1143MetfsTer12) NC_000023.11:45082772:CTATCT:CT p.(Ser1143MetfsTer12) NC_000023.11:45082774:ATCT: Analogous +NM_001099922.3:c.2591T>C NP_001093392.1:p.Leu864Ser NC_000023.11:111736774:T:C p.(Leu864Ser) NC_000023.11:111736774:T:C p.(Leu864Ser) NC_000023.11:111736774:T:C Identity +NM_001170649.2:c.13T>A NP_001164120.1:p.Ser5Thr NC_000023.11:65534702:A:T p.(Ser5Thr) NC_000023.11:65534702:A:T p.(Ser5Thr) NC_000023.11:65534702:A:T Identity +NM_001010892.3:c.1690del NP_001010892.1:p.Gln564fs NC_000006.12:116629593:C: p.(Gln564LysfsTer20) NC_000006.12:116629593:C: p.(Gln564LysfsTer20) NC_000006.12:116629593:C: Analogous +NM_001130420.3:c.172C>T NP_001123892.1:p.Gln58Ter NC_000012.12:56187245:G:A p.(Gln58Ter) NC_000012.12:56187245:G:A p.(Gln58Ter) NC_000012.12:56187245:G:A Identity +NM_001271.4:c.3031A>G NP_001262.3:p.Thr1011Ala NC_000015.10:92981421:A:G p.(Thr1011Ala) NC_000015.10:92981421:A:G p.(Thr1011Ala) NC_000015.10:92981421:A:G Identity +NM_005908.4:c.1922G>A NP_005899.3:p.Arg641His NC_000004.12:102639804:C:T p.(Arg641His) NC_000004.12:102639804:C:T p.(Arg641His) NC_000004.12:102639804:C:T Identity +NM_001372065.1:c.304A>C NP_001358994.1:p.Lys102Gln NC_000011.10:134217013:T:G p.(Lys102Gln) NC_000011.10:134217013:T:G p.(Lys102Gln) NC_000011.10:134217013:T:G Identity +NM_001040113.2:c.4142C>T NP_001035202.1:p.Ser1381Phe NC_000016.10:15724404:G:A p.(Ser1381Phe) NC_000016.10:15724404:G:A p.(Ser1381Phe) NC_000016.10:15724404:G:A Identity +NM_001070.5:c.925C>T NP_001061.2:p.Arg309Ter NC_000017.11:42614340:C:T p.(Arg309Ter) NC_000017.11:42614340:C:T p.(Arg309Ter) NC_000017.11:42614340:C:T Identity +NM_000527.5:c.2287del NP_000518.1:p.Glu763fs NC_000019.10:11123318:GG:G p.(Glu763ArgfsTer2) NC_000019.10:11123318:GG:G p.(Glu763ArgfsTer2) NC_000019.10:11123319:G: Analogous +NM_001351444.2:c.4477A>T NP_001338373.1:p.Lys1493Ter NC_000006.12:87258525:A:T p.(Lys1493Ter) NC_000006.12:87258525:A:T p.(Lys1493Ter) NC_000006.12:87258525:A:T Identity +NM_001291415.2:c.140A>G NP_001278344.1:p.Glu47Gly NC_000023.11:44873690:A:G p.(Glu47Gly) NC_000023.11:44873690:A:G p.(Glu47Gly) NC_000023.11:44873690:A:G Identity +NM_001281463.1:c.1169G>A NP_001268392.1:p.Arg390Gln NC_000023.11:53411779:C:T p.(Arg390Gln) NC_000023.11:53411779:C:T p.(Arg390Gln) NC_000023.11:53411779:C:T Identity +NM_001288705.3:c.2720_2722del NP_001275634.1:p.Cys907del NC_000005.10:150054362:AGCAG:AG p.(Cys907del) NC_000005.10:150054362:AGCAG:AG p.(Cys907del) NC_000005.10:150054362:AGC: Identity +NM_000110.4:c.2357C>A NP_000101.2:p.Pro786His NC_000001.11:97234936:G:T p.(Pro786His) NC_000001.11:97234936:G:T p.(Pro786His) NC_000001.11:97234936:G:T Identity +NM_001269039.3:c.1301A>C NP_001255968.1:p.Asn434Thr NC_000010.11:111009728:A:C p.(Asn434Thr) NC_000010.11:111009728:A:C p.(Asn434Thr) NC_000010.11:111009728:A:C Identity +NM_138459.5:c.697A>G NP_612468.1:p.Asn233Asp NC_000006.12:117703609:A:G p.(Asn233Asp) NC_000006.12:117703609:A:G p.(Asn233Asp) NC_000006.12:117703609:A:G Identity +NM_001034116.2:c.551C>T NP_001029288.1:p.Pro184Leu NC_000002.12:27368410:G:A p.(Pro184Leu) NC_000002.12:27368410:G:A p.(Pro184Leu) NC_000002.12:27368410:G:A Identity +NM_000090.4:c.3872A>C NP_000081.2:p.Lys1291Thr NC_000002.12:189010225:A:C p.(Lys1291Thr) NC_000002.12:189010225:A:C p.(Lys1291Thr) NC_000002.12:189010225:A:C Identity +NM_014991.6:c.749A>G NP_055806.2:p.Asn250Ser NC_000004.12:84831432:T:C p.(Asn250Ser) NC_000004.12:84831432:T:C p.(Asn250Ser) NC_000004.12:84831432:T:C Identity +NM_017780.4:c.6476C>A NP_060250.2:p.Ser2159Tyr NC_000008.11:60853200:C:A p.(Ser2159Tyr) NC_000008.11:60853200:C:A p.(Ser2159Tyr) NC_000008.11:60853200:C:A Identity +NM_001288964.2:c.210A>G NP_001275893.1:p.Ile70Met NC_000003.12:138571053:T:C p.(Ile70Met) NC_000003.12:138571053:T:C p.(Ile70Met) NC_000003.12:138571053:T:C Identity +NM_015512.5:c.8677A>G NP_056327.4:p.Ile2893Val NC_000003.12:52386210:A:G p.(Ile2893Val) NC_000003.12:52386210:A:G p.(Ile2893Val) NC_000003.12:52386210:A:G Identity +NM_001010892.3:c.1838C>G NP_001010892.1:p.Ser613Ter NC_000006.12:116630473:C:G p.(Ser613Ter) NC_000006.12:116630473:C:G p.(Ser613Ter) NC_000006.12:116630473:C:G Identity +NM_003482.4:c.859A>G NP_003473.3:p.Lys287Glu NC_000012.12:49053301:T:C p.(Lys287Glu) NC_000012.12:49053301:T:C p.(Lys287Glu) NC_000012.12:49053301:T:C Identity +NM_001256850.1:c.56086G>T NP_001243779.1:p.Glu18696Ter NC_000002.12:178590715:C:A p.(Glu18696Ter) NC_000002.12:178590715:C:A p.(Glu18696Ter) NC_000002.12:178590715:C:A Identity +NM_001805.4:c.653T>C NP_001796.2:p.Val218Ala NC_000014.9:23117679:A:G p.(Val218Ala) NC_000014.9:23117679:A:G p.(Val218Ala) NC_000014.9:23117679:A:G Identity +NM_005993.5:c.3307G>A NP_005984.3:p.Gly1103Ser NC_000017.11:82938073:G:A p.(Gly1103Ser) NC_000017.11:82938073:G:A p.(Gly1103Ser) NC_000017.11:82938073:G:A Identity +NM_006015.6:c.163G>A NP_006006.3:p.Gly55Arg NC_000001.11:26696565:G:A p.(Gly55Arg) NC_000001.11:26696565:G:A p.(Gly55Arg) NC_000001.11:26696565:G:A Identity +NM_000255.4:c.1645del NP_000246.2:p.Leu549fs NC_000006.12:49444669:GG:G p.(Leu549TrpfsTer21) NC_000006.12:49444669:GG:G p.(Leu549TrpfsTer21) NC_000006.12:49444669:G: Analogous +NM_001256850.1:c.8674G>C NP_001243779.1:p.Glu2892Gln NC_000002.12:178769906:C:G p.(Glu2892Gln) NC_000002.12:178769906:C:G p.(Glu2892Gln) NC_000002.12:178769906:C:G Identity +NM_020791.4:c.332C>T NP_065842.1:p.Ser111Phe NC_000017.11:29477685:C:T p.(Ser111Phe) NC_000017.11:29477685:C:T p.(Ser111Phe) NC_000017.11:29477685:C:T Identity +NM_014208.3:c.3535_3537delinsGAC NP_055023.2:p.Asn1179Asp NC_000004.12:87616196:AAT:GAC p.(Asn1179Asp) NC_000004.12:87616196:AAT:GAC p.(Asn1179Asp) NC_000004.12:87616196:AAT:GAC Identity +NM_000352.6:c.2062T>G NP_000343.2:p.Trp688Gly NC_000011.10:17427920:A:C p.(Trp688Gly) NC_000011.10:17427920:A:C p.(Trp688Gly) NC_000011.10:17427920:A:C Identity +NM_002642.4:c.138C>A NP_002633.1:p.Tyr46Ter NC_000001.11:172442484:G:T p.(Tyr46Ter) NC_000001.11:172442484:G:T p.(Tyr46Ter) NC_000001.11:172442484:G:T Identity +NM_001271.4:c.2650A>G NP_001262.3:p.Ile884Val NC_000015.10:92978305:A:G p.(Ile884Val) NC_000015.10:92978305:A:G p.(Ile884Val) NC_000015.10:92978305:A:G Identity +NM_001256850.1:c.47592G>A NP_001243779.1:p.Trp15864Ter NC_000002.12:178608367:C:T p.(Trp15864Ter) NC_000002.12:178608367:C:T p.(Trp15864Ter) NC_000002.12:178608367:C:T Identity +NM_020461.4:c.1615_1616del NP_065194.3:p.Trp539fs NC_000022.11:50226363:CA: p.(Trp539GlyfsTer27) NC_000022.11:50226363:CA: p.(Trp539GlyfsTer27) NC_000022.11:50226363:CA: Analogous +NM_001378454.1:c.11310_11313del NP_001365383.1:p.Asp3770fs NC_000002.12:73573183:AGATAGA:AGA p.(Asp3770GlufsTer20) NC_000002.12:73573183:AGATAGA:AGA p.(Asp3770GlufsTer20) NC_000002.12:73573186:TAGA: Analogous +NM_145292.4:c.1256G>C NP_660335.2:p.Arg419Pro NC_000007.14:152019724:G:C p.(Arg419Pro) NC_000007.14:152019724:G:C p.(Arg419Pro) NC_000007.14:152019724:G:C Identity +NM_001040428.4:c.561del NP_001035518.1:p.Ala188fs NC_000014.9:88426513:AAA:AA p.(Ala188HisfsTer26) NC_000014.9:88426513:AAA:AA p.(Ala188HisfsTer26) NC_000014.9:88426515:A: Analogous +NM_001177984.3:c.235G>A NP_001171455.1:p.Val79Ile NC_000012.12:51663051:G:A p.(Val79Ile) NC_000012.12:51663051:G:A p.(Val79Ile) NC_000012.12:51663051:G:A Identity +NM_001185039.2:c.1282del NP_001171968.1:p.Gln428fs NC_000017.11:75949799:G: p.(Gln428SerfsTer3) NC_000017.11:75949799:G: p.(Gln428SerfsTer3) NC_000017.11:75949799:G: Analogous +NM_001163435.3:c.1584dup NP_001156907.2:p.Arg529Ter NC_000004.12:106232992:AAA:AAAA p.(Arg529Ter) NC_000004.12:106232992:AAA:AAAA p.(Arg529Ter) ERR:SPDI Identity +NM_000053.4:c.1630C>T NP_000044.2:p.Gln544Ter NC_000013.11:51968520:G:A p.(Gln544Ter) NC_000013.11:51968520:G:A p.(Gln544Ter) NC_000013.11:51968520:G:A Identity +NM_000813.3:c.895A>G NP_000804.1:p.Ile299Val NC_000005.10:161331064:T:C p.(Ile299Val) NC_000005.10:161331064:T:C p.(Ile299Val) NC_000005.10:161331064:T:C Identity +NM_001079846.1:c.5110A>G NP_001073315.1:p.Met1704Val NC_000016.10:3729822:T:C p.(Met1704Val) NC_000016.10:3729822:T:C p.(Met1704Val) NC_000016.10:3729822:T:C Identity +NM_001271769.2:c.1756G>A NP_001258698.1:p.Glu586Lys NC_000005.10:78128094:C:T p.(Glu586Lys) NC_000005.10:78128094:C:T p.(Glu586Lys) NC_000005.10:78128094:C:T Identity +NM_005458.8:c.1649_1658del NP_005449.5:p.Glu550fs NC_000009.12:98385643:CAAAGTGTTTCAAAG:CAAAG p.(Glu550AlafsTer33) NC_000009.12:98385643:CAAAGTGTTTCAAAG:CAAAG p.(Glu550AlafsTer33) NC_000009.12:98385643:CAAAGTGTTT: Analogous +NM_007118.4:c.1871C>T NP_009049.2:p.Ala624Val NC_000005.10:14336551:C:T p.(Ala624Val) NC_000005.10:14336551:C:T p.(Ala624Val) NC_000005.10:14336551:C:T Identity +NM_001351444.2:c.2633dup NP_001338373.1:p.Gln879fs NC_000006.12:87256678:CCCC:CCCCC p.(Gln879ThrfsTer31) NC_000006.12:87256678:CCCC:CCCCC p.(Gln879ThrfsTer31) ERR:SPDI Analogous +NM_001330311.2:c.1667del NP_001317240.1:p.Pro556fs NC_000001.11:1338023:GGG:GG p.(Pro556ArgfsTer118) NC_000001.11:1338023:GGG:GG p.(Pro556ArgfsTer118) NC_000001.11:1338023:G: Analogous +NM_030632.3:c.1669G>T NP_085135.1:p.Glu557Ter NC_000018.10:33739072:G:T p.(Glu557Ter) NC_000018.10:33739072:G:T p.(Glu557Ter) NC_000018.10:33739072:G:T Identity +NM_001972.4:c.322G>C NP_001963.1:p.Gly108Arg NC_000019.10:853358:G:C p.(Gly108Arg) NC_000019.10:853358:G:C p.(Gly108Arg) NC_000019.10:853358:G:C Identity +NM_001382394.1:c.788C>G NP_001369323.1:p.Thr263Arg NC_000002.12:39051198:G:C p.(Thr263Arg) NC_000002.12:39051198:G:C p.(Thr263Arg) NC_000002.12:39051198:G:C Identity +NM_001083962.2:c.1459_1462dup NP_001077431.1:p.Asn488fs NC_000018.10:55234571:TCAG:TCAGTCAG p.(Asn488ThrfsTer26) NC_000018.10:55234571:TCAG:TCAGTCAG p.(Asn488ThrfsTer26) ERR:SPDI Analogous +NM_177987.3:c.1045G>A NP_817124.1:p.Val349Ile NC_000010.11:47346:C:T p.(Val349Ile) NC_000010.11:47346:C:T p.(Val349Ile) NC_000010.11:47346:C:T Identity +NM_000186.4:c.1616G>T NP_000177.2:p.Gly539Val NC_000001.11:196715688:G:T p.(Gly539Val) NC_000001.11:196715688:G:T p.(Gly539Val) NC_000001.11:196715688:G:T Identity +NM_000426.4:c.2968G>T NP_000417.3:p.Gly990Ter NC_000006.12:129297795:G:T p.(Gly990Ter) NC_000006.12:129297795:G:T p.(Gly990Ter) NC_000006.12:129297795:G:T Identity +NM_000109.4:c.6100A>T NP_000100.3:p.Lys2034Ter NC_000023.11:32287694:T:A p.(Lys2034Ter) NC_000023.11:32287694:T:A p.(Lys2034Ter) NC_000023.11:32287694:T:A Identity +NM_000136.3:c.323C>A NP_000127.2:p.Ser108Ter NC_000009.12:95240670:G:T p.(Ser108Ter) NC_000009.12:95240670:G:T p.(Ser108Ter) NC_000009.12:95240670:G:T Identity +NM_001008537.3:c.3630del NP_001008537.1:p.Lys1210fs NC_000023.11:74740926:TTTTT:TTTT p.(Lys1210AsnfsTer62) NC_000023.11:74740926:TTTTT:TTTT p.(Lys1210AsnfsTer62) NC_000023.11:74740926:T: Analogous +NM_001146702.2:c.1263C>A NP_001140174.1:p.Cys421Ter NC_000023.11:53210794:G:T p.(Cys421Ter) NC_000023.11:53210794:G:T p.(Cys421Ter) NC_000023.11:53210794:G:T Identity +NM_003482.4:c.12183del NP_003473.3:p.Glu4061fs NC_000012.12:49032521:TT:T p.(Glu4061AspfsTer5) NC_000012.12:49032521:TT:T p.(Glu4061AspfsTer5) NC_000012.12:49032521:T: Analogous +NM_000168.6:c.2962G>C NP_000159.3:p.Gly988Arg NC_000007.14:41966110:C:G p.(Gly988Arg) NC_000007.14:41966110:C:G p.(Gly988Arg) NC_000007.14:41966110:C:G Identity +NM_001171653.2:c.369C>G NP_001165124.1:p.Tyr123Ter NC_000002.12:144404986:G:C p.(Tyr123Ter) NC_000002.12:144404986:G:C p.(Tyr123Ter) NC_000002.12:144404986:G:C Identity +NM_001083961.2:c.1963dup NP_001077430.1:p.Tyr655fs NC_000019.10:36090448:T:TT p.(Tyr655LeufsTer18) NC_000019.10:36090448:T:TT p.(Tyr655LeufsTer18) ERR:SPDI Analogous +NM_001378454.1:c.1252A>G NP_001365383.1:p.Lys418Glu NC_000002.12:73426466:A:G p.(Lys418Glu) NC_000002.12:73426466:A:G p.(Lys418Glu) NC_000002.12:73426466:A:G Identity +NM_001378454.1:c.1403_1404del NP_001365383.1:p.Val468fs NC_000002.12:73432259:TGTG:TG p.(Val468AlafsTer5) NC_000002.12:73432259:TGTG:TG p.(Val468AlafsTer5) NC_000002.12:73432261:TG: Analogous +NM_001029883.3:c.2967del NP_001025054.1:p.Val990fs NC_000002.12:29071294:A: p.(Val990TrpfsTer45) NC_000002.12:29071294:A: p.(Val990TrpfsTer45) NC_000002.12:29071294:A: Analogous +NM_024675.4:c.2974_2975del NP_078951.2:p.Met992fs NC_000016.10:23622989:AT: p.(Met992AspfsTer18) NC_000016.10:23622989:AT: p.(Met992AspfsTer18) NC_000016.10:23622989:AT: Analogous +NM_000540.3:c.10422C>G NP_000531.2:p.Asn3474Lys NC_000019.10:38523290:C:G p.(Asn3474Lys) NC_000019.10:38523290:C:G p.(Asn3474Lys) NC_000019.10:38523290:C:G Identity +NM_001069.3:c.935C>T NP_001060.1:p.Thr312Met NC_000006.12:3154265:G:A p.(Thr312Met) NC_000006.12:3154265:G:A p.(Thr312Met) NC_000006.12:3154265:G:A Identity +NM_032756.4:c.503G>A NP_116145.1:p.Cys168Tyr NC_000001.11:45327650:G:A p.(Cys168Tyr) NC_000001.11:45327650:G:A p.(Cys168Tyr) NC_000001.11:45327650:G:A Identity +NM_004621.6:c.1484A>G NP_004612.2:p.Glu495Gly NC_000011.10:101482974:T:C p.(Glu495Gly) NC_000011.10:101482974:T:C p.(Glu495Gly) NC_000011.10:101482974:T:C Identity +NM_001257158.2:c.610A>G NP_001244087.1:p.Met204Val NC_000007.14:130401912:T:C p.(Met204Val) NC_000007.14:130401912:T:C p.(Met204Val) NC_000007.14:130401912:T:C Identity +NM_001351444.2:c.1438G>T NP_001338373.1:p.Glu480Ter NC_000006.12:87255486:G:T p.(Glu480Ter) NC_000006.12:87255486:G:T p.(Glu480Ter) NC_000006.12:87255486:G:T Identity +NM_015512.5:c.10345G>A NP_056327.4:p.Val3449Met NC_000003.12:52392895:G:A p.(Val3449Met) NC_000003.12:52392895:G:A p.(Val3449Met) NC_000003.12:52392895:G:A Identity +NM_001271.4:c.1940C>T NP_001262.3:p.Thr647Ile NC_000015.10:92956588:C:T p.(Thr647Ile) NC_000015.10:92956588:C:T p.(Thr647Ile) NC_000015.10:92956588:C:T Identity +NM_007118.4:c.410C>T NP_009049.2:p.Ser137Phe NC_000005.10:14286932:C:T p.(Ser137Phe) NC_000005.10:14286932:C:T p.(Ser137Phe) NC_000005.10:14286932:C:T Identity +NM_002293.4:c.3528G>C NP_002284.3:p.Met1176Ile NC_000001.11:183131339:G:C p.(Met1176Ile) NC_000001.11:183131339:G:C p.(Met1176Ile) NC_000001.11:183131339:G:C Identity +NM_001247997.2:c.4118A>G NP_001234926.1:p.Lys1373Arg NC_000012.12:122273073:T:C p.(Lys1373Arg) NC_000012.12:122273073:T:C p.(Lys1373Arg) NC_000012.12:122273073:T:C Identity +NM_001012478.2:c.791G>A NP_001012496.1:p.Gly264Glu NC_000019.10:55668554:G:A p.(Gly264Glu) NC_000019.10:55668554:G:A p.(Gly264Glu) NC_000019.10:55668554:G:A Identity +NM_019066.5:c.1930C>T NP_061939.3:p.Gln644Ter NC_000015.10:23645812:G:A p.(Gln644Ter) NC_000015.10:23645812:G:A p.(Gln644Ter) NC_000015.10:23645812:G:A Identity +NM_002047.4:c.1954G>C NP_002038.2:p.Gly652Arg NC_000007.14:30632296:G:C p.(Gly652Arg) NC_000007.14:30632296:G:C p.(Gly652Arg) NC_000007.14:30632296:G:C Identity +NM_001197104.2:c.3515dup NP_001184033.1:p.Asn1172fs NC_000011.10:118478145:AA:AAA p.(Asn1172LysfsTer5) NC_000011.10:118478145:AA:AAA p.(Asn1172LysfsTer5) ERR:SPDI Analogous +NM_001193416.3:c.1424G>T NP_001180345.1:p.Arg475Leu NC_000023.11:41346336:G:T p.(Arg475Leu) NC_000023.11:41346336:G:T p.(Arg475Leu) NC_000023.11:41346336:G:T Identity +NM_001256324.2:c.5107A>T NP_001243253.1:p.Lys1703Ter NC_000017.11:50617863:A:T p.(Lys1703Ter) NC_000017.11:50617863:A:T p.(Lys1703Ter) NC_000017.11:50617863:A:T Identity +NM_000296.4:c.12556C>T NP_000287.4:p.Pro4186Ser NC_000016.10:2090079:G:A p.(Pro4186Ser) NC_000016.10:2090079:G:A p.(Pro4186Ser) NC_000016.10:2090079:G:A Identity +NM_003482.4:c.12955A>T NP_003473.3:p.Arg4319Ter NC_000012.12:49031749:T:A p.(Arg4319Ter) NC_000012.12:49031749:T:A p.(Arg4319Ter) NC_000012.12:49031749:T:A Identity +NM_001127671.2:c.3089C>T NP_001121143.1:p.Pro1030Leu NC_000005.10:38481799:G:A p.(Pro1030Leu) NC_000005.10:38481799:G:A p.(Pro1030Leu) NC_000005.10:38481799:G:A Identity +NM_004329.3:c.1114A>T NP_004320.2:p.Lys372Ter NC_000010.11:86919416:A:T p.(Lys372Ter) NC_000010.11:86919416:A:T p.(Lys372Ter) NC_000010.11:86919416:A:T Identity +NM_001008537.3:c.2812C>T NP_001008537.1:p.Leu938Phe NC_000023.11:74741744:G:A p.(Leu938Phe) NC_000023.11:74741744:G:A p.(Leu938Phe) NC_000023.11:74741744:G:A Identity +NM_001008537.3:c.1635_1636del NP_001008537.1:p.Asn546fs NC_000023.11:74742920:TA: p.(Asn546SerfsTer3) NC_000023.11:74742920:TA: p.(Asn546SerfsTer3) NC_000023.11:74742920:TA: Analogous +NM_000156.6:c.442dup NP_000147.1:p.Gln148fs NC_000019.10:1399144:GG:GGG p.(Gln148ProfsTer43) NC_000019.10:1399144:GG:GGG p.(Gln148ProfsTer43) ERR:SPDI Analogous +NM_000489.6:c.1648A>G NP_000480.3:p.Ser550Gly NC_000023.11:77683607:T:C p.(Ser550Gly) NC_000023.11:77683607:T:C p.(Ser550Gly) NC_000023.11:77683607:T:C Identity +NM_001007097.3:c.1279G>T NP_001007098.1:p.Gly427Cys NC_000009.12:84745055:G:T p.(Gly427Cys) NC_000009.12:84745055:G:T p.(Gly427Cys) NC_000009.12:84745055:G:T Identity +NM_001031726.4:c.240_241dup NP_001026896.3:p.Pro81fs NC_000019.10:29702896:GC:GCGC p.(Pro81ArgfsTer28) NC_000019.10:29702896:GC:GCGC p.(Pro81ArgfsTer28) ERR:SPDI Analogous +NM_001080522.2:c.4555T>C NP_001073991.2:p.Trp1519Arg NC_000004.12:15599586:T:C p.(Trp1519Arg) NC_000004.12:15599586:T:C p.(Trp1519Arg) NC_000004.12:15599586:T:C Identity +NM_001098802.3:c.22C>T NP_001092272.1:p.Arg8Cys NC_000009.12:78236371:C:T p.(Arg8Cys) NC_000009.12:78236371:C:T p.(Arg8Cys) NC_000009.12:78236371:C:T Identity +NM_017514.5:c.322C>T NP_059984.3:p.Arg108Cys NC_000023.11:154460504:C:T p.(Arg108Cys) NC_000023.11:154460504:C:T p.(Arg108Cys) NC_000023.11:154460504:C:T Identity +NM_006015.6:c.943G>A NP_006006.3:p.Asp315Asn NC_000001.11:26697345:G:A p.(Asp315Asn) NC_000001.11:26697345:G:A p.(Asp315Asn) NC_000001.11:26697345:G:A Identity +NM_005188.4:c.2086G>C NP_005179.2:p.Glu696Gln NC_000011.10:119296966:G:C p.(Glu696Gln) NC_000011.10:119296966:G:C p.(Glu696Gln) NC_000011.10:119296966:G:C Identity +NM_001318204.2:c.1096C>T NP_001305133.1:p.Arg366Trp NC_000009.12:91730996:G:A p.(Arg366Trp) NC_000009.12:91730996:G:A p.(Arg366Trp) NC_000009.12:91730996:G:A Identity +NM_025114.4:c.1429C>T NP_079390.3:p.Arg477Ter NC_000012.12:88120206:G:A p.(Arg477Ter) NC_000012.12:88120206:G:A p.(Arg477Ter) NC_000012.12:88120206:G:A Identity +NM_001377948.1:c.1005C>G NP_001364877.1:p.Tyr335Ter NC_000014.9:21324933:C:G p.(Tyr335Ter) NC_000014.9:21324933:C:G p.(Tyr335Ter) NC_000014.9:21324933:C:G Identity +NM_000135.4:c.2848G>T NP_000126.2:p.Glu950Ter NC_000016.10:89761952:C:A p.(Glu950Ter) NC_000016.10:89761952:C:A p.(Glu950Ter) NC_000016.10:89761952:C:A Identity +NM_001130438.3:c.7305C>A NP_001123910.1:p.Tyr2435Ter NC_000009.12:128632951:C:A p.(Tyr2435Ter) NC_000009.12:128632951:C:A p.(Tyr2435Ter) NC_000009.12:128632951:C:A Identity +NM_024665.7:c.920A>G NP_078941.2:p.His307Arg NC_000003.12:177046133:T:C p.(His307Arg) NC_000003.12:177046133:T:C p.(His307Arg) NC_000003.12:177046133:T:C Identity +NM_001017423.2:c.2018T>C NP_001017423.1:p.Ile673Thr NC_000010.11:95611341:A:G p.(Ile673Thr) NC_000010.11:95611341:A:G p.(Ile673Thr) NC_000010.11:95611341:A:G Identity +NM_001958.5:c.465G>A NP_001949.1:p.Met155Ile NC_000020.11:63494960:C:T p.(Met155Ile) NC_000020.11:63494960:C:T p.(Met155Ile) NC_000020.11:63494960:C:T Identity +NM_003680.4:c.1373C>T NP_003671.1:p.Pro458Leu NC_000001.11:32779484:G:A p.(Pro458Leu) NC_000001.11:32779484:G:A p.(Pro458Leu) NC_000001.11:32779484:G:A Identity +NM_030632.3:c.2672A>G NP_085135.1:p.Asp891Gly NC_000018.10:33740075:A:G p.(Asp891Gly) NC_000018.10:33740075:A:G p.(Asp891Gly) NC_000018.10:33740075:A:G Identity +NM_001330615.4:c.614_615del NP_001317544.2:p.Glu205fs NC_000003.12:12405963:AGAG:AG p.(Glu205ValfsTer3) NC_000003.12:12405963:AGAG:AG p.(Glu205ValfsTer3) NC_000003.12:12405965:AG: Analogous +NM_000259.3:c.4516C>G NP_000250.3:p.Pro1506Ala NC_000015.10:52327970:G:C p.(Pro1506Ala) NC_000015.10:52327970:G:C p.(Pro1506Ala) NC_000015.10:52327970:G:C Identity +NM_199420.4:c.4262_4268del NP_955452.3:p.Ile1421fs NC_000003.12:121488662:AATAGTA: p.(Ile1421ArgfsTer8) NC_000003.12:121488662:AATAGTA: p.(Ile1421ArgfsTer8) NC_000003.12:121488662:AATAGTA: Analogous +NM_001291860.2:c.9973G>A NP_001278789.1:p.Gly3325Arg NC_000001.11:21839004:C:T p.(Gly3325Arg) NC_000001.11:21839004:C:T p.(Gly3325Arg) NC_000001.11:21839004:C:T Identity +LRG_1425t2:c.229C>G LRG_1425p2:p.Pro77Ala NC_000015.10:92924486:C:G ERR:Data provider error: ValueError: Transcript LRG_1425t2 not found ERR:Data provider error: ValueError: Transcript LRG_1425t2 not found ERR:AlignmentMapper(tx_ac=LRG_1425t2, alt_ac=LRG_1425t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1425t2, alt_ac=LRG_1425t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1425t2 not found +NM_001080397.3:c.1178G>A NP_001073866.3:p.Gly393Asp NC_000001.11:8330670:G:A p.(Gly393Asp) NC_000001.11:8330670:G:A p.(Gly393Asp) NC_000001.11:8330670:G:A Identity +NM_001318204.2:c.899G>T NP_001305133.1:p.Cys300Phe NC_000009.12:91733159:C:A p.(Cys300Phe) NC_000009.12:91733159:C:A p.(Cys300Phe) NC_000009.12:91733159:C:A Identity +NM_000495.5:c.182T>A NP_000486.1:p.Leu61Ter NC_000023.11:108559103:T:A p.(Leu61Ter) NC_000023.11:108559103:T:A p.(Leu61Ter) NC_000023.11:108559103:T:A Identity +NM_001122633.3:c.2773G>T NP_001116105.2:p.Glu925Ter NC_000002.12:210637786:G:T p.(Glu925Ter) NC_000002.12:210637786:G:T p.(Glu925Ter) NC_000002.12:210637786:G:T Identity +NM_000426.4:c.7283C>G NP_000417.3:p.Ser2428Ter NC_000006.12:129465271:C:G p.(Ser2428Ter) NC_000006.12:129465271:C:G p.(Ser2428Ter) NC_000006.12:129465271:C:G Identity +NM_001363725.2:c.3529del NP_001350654.1:p.Ala1177fs NC_000006.12:157206796:GGGG:GGG p.(Ala1177HisfsTer87) NC_000006.12:157206796:GGGG:GGG p.(Ala1177HisfsTer87) NC_000006.12:157206799:G: Analogous +NM_001177984.3:c.2518C>T NP_001171455.1:p.Leu840Phe NC_000012.12:51762649:C:T p.(Leu840Phe) NC_000012.12:51762649:C:T p.(Leu840Phe) NC_000012.12:51762649:C:T Identity +NM_000237.3:c.804C>G NP_000228.1:p.His268Gln NC_000008.11:19955868:C:G p.(His268Gln) NC_000008.11:19955868:C:G p.(His268Gln) NC_000008.11:19955868:C:G Identity +NM_000720.4:c.2225C>T NP_000711.1:p.Ser742Phe NC_000003.12:53726942:C:T p.(Ser742Phe) NC_000003.12:53726942:C:T p.(Ser742Phe) NC_000003.12:53726942:C:T Identity +NM_000091.5:c.2834C>A NP_000082.2:p.Ser945Ter NC_000002.12:227284297:C:A p.(Ser945Ter) NC_000002.12:227284297:C:A p.(Ser945Ter) NC_000002.12:227284297:C:A Identity +NM_000030.3:c.198C>A NP_000021.1:p.Tyr66Ter NC_000002.12:240869201:C:A p.(Tyr66Ter) NC_000002.12:240869201:C:A p.(Tyr66Ter) NC_000002.12:240869201:C:A Identity +NM_000260.4:c.1885C>T NP_000251.3:p.Gln629Ter NC_000011.10:77172834:C:T p.(Gln629Ter) NC_000011.10:77172834:C:T p.(Gln629Ter) NC_000011.10:77172834:C:T Identity +NM_000492.4:c.3845G>A NP_000483.3:p.Trp1282Ter NC_000007.14:117642564:G:A p.(Trp1282Ter) NC_000007.14:117642564:G:A p.(Trp1282Ter) NC_000007.14:117642564:G:A Identity +NM_000124.4:c.2807G>A NP_000115.1:p.Trp936Ter NC_000010.11:49472930:C:T p.(Trp936Ter) NC_000010.11:49472930:C:T p.(Trp936Ter) NC_000010.11:49472930:C:T Identity +NM_000260.4:c.2392C>T NP_000251.3:p.Gln798Ter NC_000011.10:77179758:C:T p.(Gln798Ter) NC_000011.10:77179758:C:T p.(Gln798Ter) NC_000011.10:77179758:C:T Identity +NM_000426.4:c.602C>A NP_000417.3:p.Ser201Ter NC_000006.12:129098377:C:A p.(Ser201Ter) NC_000006.12:129098377:C:A p.(Ser201Ter) NC_000006.12:129098377:C:A Identity +NM_000152.5:c.2545A>T NP_000143.2:p.Lys849Ter NC_000017.11:80118255:A:T p.(Lys849Ter) NC_000017.11:80118255:A:T p.(Lys849Ter) NC_000017.11:80118255:A:T Identity +NM_000053.4:c.86G>A NP_000044.2:p.Trp29Ter NC_000013.11:51975133:C:T p.(Trp29Ter) NC_000013.11:51975133:C:T p.(Trp29Ter) NC_000013.11:51975133:C:T Identity +NM_000053.4:c.3313A>T NP_000044.2:p.Lys1105Ter NC_000013.11:51942484:T:A p.(Lys1105Ter) NC_000013.11:51942484:T:A p.(Lys1105Ter) NC_000013.11:51942484:T:A Identity +NM_000135.4:c.2489T>A NP_000126.2:p.Leu830Ter NC_000016.10:89769851:A:T p.(Leu830Ter) NC_000016.10:89769851:A:T p.(Leu830Ter) NC_000016.10:89769851:A:T Identity +NM_000426.4:c.790A>T NP_000417.3:p.Arg264Ter NC_000006.12:129144050:A:T p.(Arg264Ter) NC_000006.12:129144050:A:T p.(Arg264Ter) NC_000006.12:129144050:A:T Identity +NM_000170.3:c.896T>A NP_000161.2:p.Leu299Ter NC_000009.12:6604749:A:T p.(Leu299Ter) NC_000009.12:6604749:A:T p.(Leu299Ter) NC_000009.12:6604749:A:T Identity +NM_000170.3:c.853C>T NP_000161.2:p.Gln285Ter NC_000009.12:6605138:G:A p.(Gln285Ter) NC_000009.12:6605138:G:A p.(Gln285Ter) NC_000009.12:6605138:G:A Identity +NM_000092.5:c.3457A>T NP_000083.3:p.Arg1153Ter NC_000002.12:227042195:T:A p.(Arg1153Ter) NC_000002.12:227042195:T:A p.(Arg1153Ter) NC_000002.12:227042195:T:A Identity +NM_000092.5:c.3347C>G NP_000083.3:p.Ser1116Ter NC_000002.12:227043126:G:C p.(Ser1116Ter) NC_000002.12:227043126:G:C p.(Ser1116Ter) NC_000002.12:227043126:G:C Identity +NM_001122633.3:c.4099C>T NP_001116105.2:p.Gln1367Ter NC_000002.12:210668281:C:T p.(Gln1367Ter) NC_000002.12:210668281:C:T p.(Gln1367Ter) NC_000002.12:210668281:C:T Identity +NM_000255.4:c.1348G>T NP_000246.2:p.Glu450Ter NC_000006.12:49448911:C:A p.(Glu450Ter) NC_000006.12:49448911:C:A p.(Glu450Ter) NC_000006.12:49448911:C:A Identity +NM_000426.4:c.4573C>T NP_000417.3:p.Gln1525Ter NC_000006.12:129353212:C:T p.(Gln1525Ter) NC_000006.12:129353212:C:T p.(Gln1525Ter) NC_000006.12:129353212:C:T Identity +NM_001122633.3:c.1790C>A NP_001116105.2:p.Ser597Ter NC_000002.12:210602283:C:A p.(Ser597Ter) NC_000002.12:210602283:C:A p.(Ser597Ter) NC_000002.12:210602283:C:A Identity +NM_005373.3:c.756C>A NP_005364.1:p.Tyr252Ter NC_000001.11:43340028:C:A p.(Tyr252Ter) NC_000001.11:43340028:C:A p.(Tyr252Ter) NC_000001.11:43340028:C:A Identity +NM_001127641.1:c.1426C>T NP_001121113.1:p.Gln476Ter NC_000001.11:209627441:G:A p.(Gln476Ter) NC_000001.11:209627441:G:A p.(Gln476Ter) NC_000001.11:209627441:G:A Identity +NM_000028.3:c.1417G>T NP_000019.2:p.Glu473Ter NC_000001.11:99876590:G:T p.(Glu473Ter) NC_000001.11:99876590:G:T p.(Glu473Ter) NC_000001.11:99876590:G:T Identity +NM_000521.4:c.332G>A NP_000512.2:p.Trp111Ter NC_000005.10:74689359:G:A p.(Trp111Ter) NC_000005.10:74689359:G:A p.(Trp111Ter) NC_000005.10:74689359:G:A Identity +NM_000092.5:c.2992C>T NP_000083.3:p.Gln998Ter NC_000002.12:227051134:G:A p.(Gln998Ter) NC_000002.12:227051134:G:A p.(Gln998Ter) NC_000002.12:227051134:G:A Identity +NM_000124.4:c.1777A>T NP_000115.1:p.Arg593Ter NC_000010.11:49493160:T:A p.(Arg593Ter) NC_000010.11:49493160:T:A p.(Arg593Ter) NC_000010.11:49493160:T:A Identity +NM_000426.4:c.2703T>A NP_000417.3:p.Cys901Ter NC_000006.12:129288011:T:A p.(Cys901Ter) NC_000006.12:129288011:T:A p.(Cys901Ter) NC_000006.12:129288011:T:A Identity +NM_001918.5:c.1208C>A NP_001909.4:p.Ser403Ter NC_000001.11:100206445:G:T p.(Ser403Ter) NC_000001.11:100206445:G:T p.(Ser403Ter) NC_000001.11:100206445:G:T Identity +NM_000109.4:c.6151A>T NP_000100.3:p.Lys2051Ter NC_000023.11:32287643:T:A p.(Lys2051Ter) NC_000023.11:32287643:T:A p.(Lys2051Ter) NC_000023.11:32287643:T:A Identity +NM_001130455.2:c.1958G>A NP_001123927.1:p.Trp653Ter NC_000002.12:71553830:G:A p.(Trp653Ter) NC_000002.12:71553830:G:A p.(Trp653Ter) NC_000002.12:71553830:G:A Identity +NM_001135.4:c.4829del NP_001126.3:p.Pro1610fs NC_000015.10:88857412:CC:C p.(Pro1610LeufsTer5) NC_000015.10:88857412:CC:C p.(Pro1610LeufsTer5) NC_000015.10:88857413:C: Analogous +NM_000228.3:c.202A>T NP_000219.2:p.Lys68Ter NC_000001.11:209638629:T:A p.(Lys68Ter) NC_000001.11:209638629:T:A p.(Lys68Ter) NC_000001.11:209638629:T:A Identity +NM_024312.5:c.295C>T NP_077288.2:p.Gln99Ter NC_000012.12:101789965:G:A p.(Gln99Ter) NC_000012.12:101789965:G:A p.(Gln99Ter) NC_000012.12:101789965:G:A Identity +NM_001166133.2:c.2570G>T NP_001159605.1:p.Cys857Phe NC_000004.12:78363659:G:T p.(Cys857Phe) NC_000004.12:78363659:G:T p.(Cys857Phe) NC_000004.12:78363659:G:T Identity +NM_001193416.3:c.1601_1611del NP_001180345.1:p.Arg534fs NC_000023.11:41346605:ACGTGTAGGAAAC:AC p.(Arg534ProfsTer9) NC_000023.11:41346605:ACGTGTAGGAAAC:AC p.(Arg534ProfsTer9) NC_000023.11:41346607:GTGTAGGAAAC: Analogous +NM_001297715.1:c.841C>A NP_001284644.1:p.Leu281Met NC_000005.10:70952444:C:A p.(Leu281Met) NC_000005.10:70952444:C:A p.(Leu281Met) NC_000005.10:70952444:C:A Identity +NM_001029882.3:c.1003G>A NP_001025053.1:p.Asp335Asn NC_000001.11:27551112:C:T p.(Asp335Asn) NC_000001.11:27551112:C:T p.(Asp335Asn) NC_000001.11:27551112:C:T Identity +NM_001347839.2:c.1630G>C NP_001334768.1:p.Glu544Gln NC_000012.12:45848884:G:C p.(Glu544Gln) NC_000012.12:45848884:G:C p.(Glu544Gln) NC_000012.12:45848884:G:C Identity +NM_001242828.2:c.235A>T NP_001229757.1:p.Met79Leu NC_000006.12:53291786:T:A p.(Met79Leu) NC_000006.12:53291786:T:A p.(Met79Leu) NC_000006.12:53291786:T:A Identity +NM_000203.5:c.539G>A NP_000194.2:p.Trp180Ter NC_000004.12:1001512:G:A p.(Trp180Ter) NC_000004.12:1001512:G:A p.(Trp180Ter) NC_000004.12:1001512:G:A Identity +NM_000136.3:c.661G>T NP_000127.2:p.Glu221Ter NC_000009.12:95149947:C:A p.(Glu221Ter) NC_000009.12:95149947:C:A p.(Glu221Ter) NC_000009.12:95149947:C:A Identity +NM_000834.5:c.1496G>A NP_000825.2:p.Gly499Glu NC_000012.12:13615496:C:T p.(Gly499Glu) NC_000012.12:13615496:C:T p.(Gly499Glu) NC_000012.12:13615496:C:T Identity +NM_030632.3:c.1207C>T NP_085135.1:p.Gln403Ter NC_000018.10:33738610:C:T p.(Gln403Ter) NC_000018.10:33738610:C:T p.(Gln403Ter) NC_000018.10:33738610:C:T Identity +NM_001130066.2:c.435_447dup NP_001123538.1:p.Leu150fs NC_000006.12:33432729:AAGTCACAACCCAAA:AAGTCACAACCCAAAGTCACAACCCAAA p.(Leu150ValfsTer6) NC_000006.12:33432729:AAGTCACAACCCAAA:AAGTCACAACCCAAAGTCACAACCCAAA p.(Leu150ValfsTer6) ERR:SPDI Analogous +NM_030632.3:c.3230C>G NP_085135.1:p.Ala1077Gly NC_000018.10:33743077:C:G p.(Ala1077Gly) NC_000018.10:33743077:C:G p.(Ala1077Gly) NC_000018.10:33743077:C:G Identity +NM_001020658.2:c.3283G>A NP_001018494.1:p.Glu1095Lys NC_000001.11:30936794:C:T p.(Glu1095Lys) NC_000001.11:30936794:C:T p.(Glu1095Lys) NC_000001.11:30936794:C:T Identity +NM_130466.4:c.1445T>A NP_569733.2:p.Leu482His NC_000012.12:109503184:T:A p.(Leu482His) NC_000012.12:109503184:T:A p.(Leu482His) NC_000012.12:109503184:T:A Identity +NM_020877.5:c.9298C>T NP_065928.2:p.Arg3100Trp NC_000017.11:7805071:C:T p.(Arg3100Trp) NC_000017.11:7805071:C:T p.(Arg3100Trp) NC_000017.11:7805071:C:T Identity +NM_020877.5:c.11500C>T NP_065928.2:p.Arg3834Ter NC_000017.11:7824141:C:T p.(Arg3834Ter) NC_000017.11:7824141:C:T p.(Arg3834Ter) NC_000017.11:7824141:C:T Identity +NM_001040142.2:c.2538G>T NP_001035232.1:p.Leu846Phe NC_000002.12:165342444:G:T p.(Leu846Phe) NC_000002.12:165342444:G:T p.(Leu846Phe) NC_000002.12:165342444:G:T Identity +NM_001014839.2:c.1297G>C NP_001014839.1:p.Glu433Gln NC_000001.11:35562544:G:C p.(Glu433Gln) NC_000001.11:35562544:G:C p.(Glu433Gln) NC_000001.11:35562544:G:C Identity +NM_031407.7:c.5809G>C NP_113584.3:p.Val1937Leu NC_000023.11:53576974:C:G p.(Val1937Leu) NC_000023.11:53576974:C:G p.(Val1937Leu) NC_000023.11:53576974:C:G Identity +NM_001032221.6:c.311T>A NP_001027392.1:p.Val104Asp NC_000009.12:127660093:T:A p.(Val104Asp) NC_000009.12:127660093:T:A p.(Val104Asp) NC_000009.12:127660093:T:A Identity +NM_006245.4:c.253C>T NP_006236.1:p.Arg85Ter NC_000006.12:43006609:C:T p.(Arg85Ter) NC_000006.12:43006609:C:T p.(Arg85Ter) NC_000006.12:43006609:C:T Identity +NM_000152.5:c.1356del NP_000143.2:p.Ser454fs NC_000017.11:80109972:CC:C p.(Ser454AlafsTer23) NC_000017.11:80109972:CC:C p.(Ser454AlafsTer23) NC_000017.11:80109973:C: Analogous +NM_030632.3:c.3374_3377dup NP_085135.1:p.Thr1127fs NC_000018.10:33743220:AAAGA:AAAGAAAGA p.(Thr1127ArgfsTer24) NC_000018.10:33743220:AAAGA:AAAGAAAGA p.(Thr1127ArgfsTer24) ERR:SPDI Analogous +NM_017934.7:c.3631_3634del NP_060404.4:p.Gln1211fs NC_000006.12:78961711:TTTGTTT:TTT p.(Gln1211AspfsTer13) NC_000006.12:78961711:TTTGTTT:TTT p.(Gln1211AspfsTer13) NC_000006.12:78961711:TTTG: Analogous +NM_001202543.2:c.1591C>T NP_001189472.1:p.Gln531Ter NC_000007.14:102196968:C:T p.(Gln531Ter) NC_000007.14:102196968:C:T p.(Gln531Ter) NC_000007.14:102196968:C:T Identity +NM_001244580.2:c.3251C>T NP_001231509.1:p.Ser1084Leu NC_000007.14:98930063:C:T p.(Ser1084Leu) NC_000007.14:98930063:C:T p.(Ser1084Leu) NC_000007.14:98930063:C:T Identity +NM_001099952.4:c.2516A>G NP_001093422.2:p.Glu839Gly NC_000003.12:4674260:A:G p.(Glu839Gly) NC_000003.12:4674260:A:G p.(Glu839Gly) NC_000003.12:4674260:A:G Identity +NM_005445.4:c.3439C>G NP_005436.1:p.Gln1147Glu NC_000010.11:110602965:C:G p.(Gln1147Glu) NC_000010.11:110602965:C:G p.(Gln1147Glu) NC_000010.11:110602965:C:G Identity +NM_001244008.2:c.469C>T NP_001230937.1:p.Leu157Phe NC_000002.12:240786473:G:A p.(Leu157Phe) NC_000002.12:240786473:G:A p.(Leu157Phe) NC_000002.12:240786473:G:A Identity +NM_001114331.3:c.817G>A NP_001107803.1:p.Val273Met NC_000016.10:1456139:C:T p.(Val273Met) NC_000016.10:1456139:C:T p.(Val273Met) NC_000016.10:1456139:C:T Identity +NM_001135.4:c.7142T>A NP_001126.3:p.Met2381Lys NC_000015.10:88872947:T:A p.(Met2381Lys) NC_000015.10:88872947:T:A p.(Met2381Lys) NC_000015.10:88872947:T:A Identity +NM_001270476.2:c.298G>T NP_001257405.1:p.Asp100Tyr NC_000006.12:43007958:G:T p.(Asp100Tyr) NC_000006.12:43007958:G:T p.(Asp100Tyr) NC_000006.12:43007958:G:T Identity +NM_000937.5:c.2350G>C NP_000928.1:p.Val784Leu NC_000017.11:7501899:G:C p.(Val784Leu) NC_000017.11:7501899:G:C p.(Val784Leu) NC_000017.11:7501899:G:C Identity +NM_000828.5:c.1952A>G NP_000819.4:p.Asn651Ser NC_000023.11:123428014:A:G p.(Asn651Ser) NC_000023.11:123428014:A:G p.(Asn651Ser) NC_000023.11:123428014:A:G Identity +NM_018060.4:c.693T>A NP_060530.3:p.Tyr231Ter NC_000001.11:220102270:T:A p.(Tyr231Ter) NC_000001.11:220102270:T:A p.(Tyr231Ter) NC_000001.11:220102270:T:A Identity +NM_001160227.2:c.817_820dup NP_001153699.1:p.Val274fs NC_000015.10:44657143:CAATCA:CAATCAATCA p.(Val274AspfsTer12) NC_000015.10:44657143:CAATCA:CAATCAATCA p.(Val274AspfsTer12) ERR:SPDI Analogous +NM_000489.6:c.2810G>A NP_000480.3:p.Arg937Lys NC_000023.11:77682445:C:T p.(Arg937Lys) NC_000023.11:77682445:C:T p.(Arg937Lys) NC_000023.11:77682445:C:T Identity +NM_001039590.3:c.7424C>T NP_001034679.2:p.Pro2475Leu NC_000023.11:41229771:C:T p.(Pro2475Leu) NC_000023.11:41229771:C:T p.(Pro2475Leu) NC_000023.11:41229771:C:T Identity +NM_001282145.2:c.1796A>G NP_001269074.1:p.Asn599Ser NC_000023.11:5893471:T:C p.(Asn599Ser) NC_000023.11:5893471:T:C p.(Asn599Ser) NC_000023.11:5893471:T:C Identity +NM_020338.4:c.1372C>T NP_065071.1:p.Gln458Ter NC_000010.11:79296611:C:T p.(Gln458Ter) NC_000010.11:79296611:C:T p.(Gln458Ter) NC_000010.11:79296611:C:T Identity +NM_001127493.3:c.2992C>T NP_001120965.1:p.Arg998Ter NC_000004.12:113330363:C:T p.(Arg998Ter) NC_000004.12:113330363:C:T p.(Arg998Ter) NC_000004.12:113330363:C:T Identity +NM_001286074.2:c.5194G>C NP_001273003.2:p.Gly1732Arg NC_000023.11:71459674:G:C p.(Gly1732Arg) NC_000023.11:71459674:G:C p.(Gly1732Arg) NC_000023.11:71459674:G:C Identity +NM_017890.5:c.11730del NP_060360.3:p.Val3911fs NC_000008.11:99871603:CCCC:CCC p.(Val3911SerfsTer31) NC_000008.11:99871603:CCCC:CCC p.(Val3911SerfsTer31) NC_000008.11:99871606:C: Analogous +NM_001079846.1:c.4381C>G NP_001073315.1:p.Leu1461Val NC_000016.10:3736714:G:C p.(Leu1461Val) NC_000016.10:3736714:G:C p.(Leu1461Val) NC_000016.10:3736714:G:C Identity +NM_001039590.3:c.3491A>G NP_001034679.2:p.Tyr1164Cys NC_000023.11:41184607:A:G p.(Tyr1164Cys) NC_000023.11:41184607:A:G p.(Tyr1164Cys) NC_000023.11:41184607:A:G Identity +NM_002709.3:c.826G>T NP_002700.1:p.Asp276Tyr NC_000002.12:28793943:G:T p.(Asp276Tyr) NC_000002.12:28793943:G:T p.(Asp276Tyr) NC_000002.12:28793943:G:T Identity +NM_001127493.3:c.3265C>T NP_001120965.1:p.Arg1089Cys NC_000004.12:113333120:C:T p.(Arg1089Cys) NC_000004.12:113333120:C:T p.(Arg1089Cys) NC_000004.12:113333120:C:T Identity +NM_001081676.2:c.1348G>A NP_001075145.1:p.Glu450Lys NC_000002.12:165154483:C:T p.(Glu450Lys) NC_000002.12:165154483:C:T p.(Glu450Lys) NC_000002.12:165154483:C:T Identity +NM_003705.5:c.1331C>T NP_003696.2:p.Thr444Ile NC_000002.12:171793741:G:A p.(Thr444Ile) NC_000002.12:171793741:G:A p.(Thr444Ile) NC_000002.12:171793741:G:A Identity +NM_005249.5:c.620T>C NP_005240.3:p.Ile207Thr NC_000014.9:28767898:T:C p.(Ile207Thr) NC_000014.9:28767898:T:C p.(Ile207Thr) NC_000014.9:28767898:T:C Identity +NM_001197104.2:c.4310G>T NP_001184033.1:p.Cys1437Phe NC_000011.10:118484952:G:T p.(Cys1437Phe) NC_000011.10:118484952:G:T p.(Cys1437Phe) NC_000011.10:118484952:G:T Identity +NM_001348424.1:c.1188del NP_001335353.1:p.Asn396fs NC_000003.12:125233537:A: p.(Asn396LysfsTer6) NC_000003.12:125233537:A: p.(Asn396LysfsTer6) NC_000003.12:125233537:A: Analogous +NM_170606.3:c.4885A>G NP_733751.2:p.Met1629Val NC_000007.14:152187384:T:C p.(Met1629Val) NC_000007.14:152187384:T:C p.(Met1629Val) NC_000007.14:152187384:T:C Identity +NM_001101.5:c.645G>T NP_001092.1:p.Lys215Asn NC_000007.14:5528437:C:A p.(Lys215Asn) NC_000007.14:5528437:C:A p.(Lys215Asn) NC_000007.14:5528437:C:A Identity +NM_000834.5:c.3652T>A NP_000825.2:p.Cys1218Ser NC_000012.12:13563585:A:T p.(Cys1218Ser) NC_000012.12:13563585:A:T p.(Cys1218Ser) NC_000012.12:13563585:A:T Identity +NM_031407.7:c.12436A>G NP_113584.3:p.Met4146Val NC_000023.11:53536241:T:C p.(Met4146Val) NC_000023.11:53536241:T:C p.(Met4146Val) NC_000023.11:53536241:T:C Identity +NM_004667.6:c.9110G>A NP_004658.3:p.Arg3037Gln NC_000015.10:28178939:C:T p.(Arg3037Gln) NC_000015.10:28178939:C:T p.(Arg3037Gln) NC_000015.10:28178939:C:T Identity +NM_001289975.1:c.6148C>G NP_001276904.1:p.Leu2050Val NC_000002.12:159324907:G:C p.(Leu2050Val) NC_000002.12:159324907:G:C p.(Leu2050Val) NC_000002.12:159324907:G:C Identity +NM_080476.5:c.997G>C NP_536724.1:p.Gly333Arg NC_000020.11:34581601:C:G p.(Gly333Arg) NC_000020.11:34581601:C:G p.(Gly333Arg) NC_000020.11:34581601:C:G Identity +NM_001349955.1:c.499G>A NP_001336884.1:p.Gly167Arg NC_000001.11:85911396:C:T p.(Gly167Arg) NC_000001.11:85911396:C:T p.(Gly167Arg) NC_000001.11:85911396:C:T Identity +NM_001300899.2:c.3057T>G NP_001287828.1:p.Ser1019Arg NC_000006.12:75892639:T:G p.(Ser1019Arg) NC_000006.12:75892639:T:G p.(Ser1019Arg) NC_000006.12:75892639:T:G Identity +NM_001130066.2:c.3617_3621dup NP_001123538.1:p.Leu1208fs NC_000006.12:33446656:GGCTG:GGCTGGGCTG p.(Leu1208GlyfsTer13) NC_000006.12:33446656:GGCTG:GGCTGGGCTG p.(Leu1208GlyfsTer13) ERR:SPDI Analogous +NM_001204425.2:c.2720_2721del NP_001191354.2:p.Ser907fs NC_000013.11:102862504:CTCT:CT p.(Ser907CysfsTer9) NC_000013.11:102862504:CTCT:CT p.(Ser907CysfsTer9) NC_000013.11:102862506:CT: Analogous +NM_001351444.2:c.2594T>G NP_001338373.1:p.Leu865Ter NC_000006.12:87256642:T:G p.(Leu865Ter) NC_000006.12:87256642:T:G p.(Leu865Ter) NC_000006.12:87256642:T:G Identity +NM_001320892.2:c.449G>A NP_001307821.1:p.Gly150Asp NC_000002.12:25282439:C:T p.(Gly150Asp) NC_000002.12:25282439:C:T p.(Gly150Asp) NC_000002.12:25282439:C:T Identity +NM_001193416.3:c.1298_1299dup NP_001180345.1:p.Leu434fs NC_000023.11:41345530:AC:ACAC p.(Leu434ThrfsTer3) NC_000023.11:41345530:AC:ACAC p.(Leu434ThrfsTer3) ERR:SPDI Analogous +NM_001204831.3:c.1009T>G NP_001191760.1:p.Phe337Val NC_000003.12:43576844:A:C p.(Phe337Val) NC_000003.12:43576844:A:C p.(Phe337Val) NC_000003.12:43576844:A:C Identity +NM_005859.5:c.509T>G NP_005850.1:p.Ile170Ser NC_000005.10:140114689:T:G p.(Ile170Ser) NC_000005.10:140114689:T:G p.(Ile170Ser) NC_000005.10:140114689:T:G Identity +NM_001363823.2:c.1108C>G NP_001350752.1:p.Leu370Val NC_000002.12:32126959:C:G p.(Leu370Val) NC_000002.12:32126959:C:G p.(Leu370Val) NC_000002.12:32126959:C:G Identity +NM_001306193.2:c.736C>T NP_001293122.1:p.Arg246Ter NC_000023.11:132082486:G:A p.(Arg246Ter) NC_000023.11:132082486:G:A p.(Arg246Ter) NC_000023.11:132082486:G:A Identity +NM_001008537.3:c.1933G>T NP_001008537.1:p.Glu645Ter NC_000023.11:74742623:C:A p.(Glu645Ter) NC_000023.11:74742623:C:A p.(Glu645Ter) NC_000023.11:74742623:C:A Identity +NM_001363823.2:c.1376G>A NP_001350752.1:p.Arg459His NC_000002.12:32136933:G:A p.(Arg459His) NC_000002.12:32136933:G:A p.(Arg459His) NC_000002.12:32136933:G:A Identity +NM_001319683.2:c.1428_1431del NP_001306612.1:p.Asn476fs NC_000001.11:92262862:TTGATTG:TTG p.(Asn476LysfsTer16) NC_000001.11:92262862:TTGATTG:TTG p.(Asn476LysfsTer16) NC_000001.11:92262862:TTGA: Analogous +NM_001220765.3:c.448T>C NP_001207694.1:p.Cys150Arg NC_000007.14:50382565:T:C p.(Cys150Arg) NC_000007.14:50382565:T:C p.(Cys150Arg) NC_000007.14:50382565:T:C Identity +NM_001145444.1:c.2330del NP_001138916.1:p.Ala777fs NC_000021.9:31685161:G: p.(Ala777ValfsTer11) NC_000021.9:31685161:G: p.(Ala777ValfsTer11) NC_000021.9:31685161:G: Analogous +NM_000462.5:c.1978C>T NP_000453.2:p.Gln660Ter NC_000015.10:25356046:G:A p.(Gln660Ter) NC_000015.10:25356046:G:A p.(Gln660Ter) NC_000015.10:25356046:G:A Identity +NM_001346574.1:c.1150del NP_001333503.1:p.His384fs NC_000017.11:2041588:CCCC:CCC p.(His384ThrfsTer97) NC_000017.11:2041588:CCCC:CCC p.(His384ThrfsTer97) NC_000017.11:2041591:C: Analogous +NM_001184896.1:c.2407A>G NP_001171825.1:p.Asn803Asp NC_000023.11:53985057:T:C p.(Asn803Asp) NC_000023.11:53985057:T:C p.(Asn803Asp) NC_000023.11:53985057:T:C Identity +NM_006445.4:c.6910T>C NP_006436.3:p.Phe2304Leu NC_000017.11:1650899:A:G p.(Phe2304Leu) NC_000017.11:1650899:A:G p.(Phe2304Leu) NC_000017.11:1650899:A:G Identity +NM_020971.3:c.1149dup NP_066022.2:p.Asn384fs NC_000019.10:40502452:C:CC p.(Asn384GlnfsTer17) NC_000019.10:40502452:C:CC p.(Asn384GlnfsTer17) ERR:SPDI Analogous +NM_006939.4:c.1895T>G NP_008870.2:p.Phe632Cys NC_000014.9:50158603:A:C p.(Phe632Cys) NC_000014.9:50158603:A:C p.(Phe632Cys) NC_000014.9:50158603:A:C Identity +NM_001194937.2:c.2822dup NP_001181866.1:p.Val942fs NC_000001.11:151406185:GGG:GGGG p.(Val942SerfsTer6) NC_000001.11:151406185:GGG:GGGG p.(Val942SerfsTer6) ERR:SPDI Analogous +NM_001122834.4:c.770T>C NP_001116306.1:p.Leu257Pro NC_000001.11:210418238:T:C p.(Leu257Pro) NC_000001.11:210418238:T:C p.(Leu257Pro) NC_000001.11:210418238:T:C Identity +NM_000836.4:c.3124G>C NP_000827.2:p.Gly1042Arg NC_000019.10:48443049:G:C p.(Gly1042Arg) NC_000019.10:48443049:G:C p.(Gly1042Arg) NC_000019.10:48443049:G:C Identity +NM_004667.6:c.922T>G NP_004658.3:p.Ser308Ala NC_000015.10:28272375:A:C p.(Ser308Ala) NC_000015.10:28272375:A:C p.(Ser308Ala) NC_000015.10:28272375:A:C Identity +NM_001098816.3:c.6323A>G NP_001092286.2:p.Tyr2108Cys NC_000011.10:78670021:T:C p.(Tyr2108Cys) NC_000011.10:78670021:T:C p.(Tyr2108Cys) NC_000011.10:78670021:T:C Identity +NM_001319945.2:c.561_563del NP_001306874.1:p.His188del NC_000017.11:44075681:CCA: p.(His188del) NC_000017.11:44075681:CCA: p.(His188del) NC_000017.11:44075681:CCA: Identity +NM_001099952.4:c.4222C>T NP_001093422.2:p.Arg1408Cys NC_000003.12:4693708:C:T p.(Arg1408Cys) NC_000003.12:4693708:C:T p.(Arg1408Cys) NC_000003.12:4693708:C:T Identity +NM_000157.4:c.203dup NP_000148.2:p.Thr69fs NC_000001.11:155239989:GGGGGG:GGGGGGG p.(Thr69AspfsTer12) NC_000001.11:155239989:GGGGGG:GGGGGGG p.(Thr69AspfsTer12) ERR:SPDI Analogous +NM_000485.3:c.180_181insT NP_000476.1:p.Ile61fs NC_000016.10:88811556::A p.(Ile61TyrfsTer49) NC_000016.10:88811555:T:A p.(Ile61TyrfsTer49) NC_000016.10:88811556:TG:A Analogous +NM_006612.6:c.1049_1052del NP_006603.2:p.Cys350fs NC_000017.11:5004883:GCAA: p.(Cys350LeufsTer12) NC_000017.11:5004883:GCAA: p.(Cys350LeufsTer12) NC_000017.11:5004883:GCAA: Analogous +NM_001363864.1:c.55_56insT NP_001350793.1:p.Pro19fs NC_000002.12:60553215::A p.(Pro19LeufsTer5) NC_000002.12:60546299:GCTGTGGTTGGAGAAACAAAAGCACAATTATTAGAGTGCCAGAGAGGACAGAAAGGGGAGAAGCACATCTCAACCCCATGCCATCCCACCACATCATGTAAAGTGTTTCTAGGCTTCTCTATATAATACCCAGAAAATGTGAGCATACAAAAAGTACAAGGATGTGAAGGTTATCAACCAGAGAGCAAATTTGTCAATGAGGCAAATCATCACATATGTAAAGAAAACAGTCTTCCTTGCATAACTCCAGAGAACACACACACACACATATACCCATGCACACACCCACAGCAACAAATGTGTCTGGTTTGTAAGTTTAGAAAGAATGCTACTTAAATAGTTAACACAGGGAACATAAAGAAAGCTTAAATAATAACTACAAGAAAAACTGGTTAAAAAAAAAAGTGGATAGAAACCAAATTTGTTTCTTTTTTCCTATACACCAAGTTGTCCATTGTGCCAAAGAATGAAAGGAGAGGTGAATAAACACACACACCCTTTGTGTGTGAATGTATATACTCCTAAGTAAACAGACATGGCTTCATAAATTAGAAAGCTACTATGTCACATGAAAAATGTGCCACATTTACACTGCTGTAATAAGAAAACGACTGCATGCACCTATGAAACGGATCTAAATAATAATCATGTCGCAGCATAATTCACACTGCCAAAAACCTTTCTGCTCTCACTCTCAGCAGTGCCACAAAATCAAAGAAATACCAAATGCACGGGCAGTATTTCTCAGACACATTAGCTAAATGGGATACTTTTGAGTACTTAAGAAAATAAGCCAATTAGTCATTTTTTTTTTATTCTGAGAAATGGAATGCCTATAATATTCTAAACATGTTTGCACTTGGTGGCATCTATGATATAAAAATCAGAATGGTCAAGCAAACACCACATTTCAGAGCAAGGCTGAGAAGTCCTTTCTTTAGACTTGAAATACTTCGCCTAATGTTGTCAAAGTGGACTAATTTTCTGAATGAGCTCCAAAATGCTTCATTATGAGACTATTTCTGCACACATAATCACCAGCGGATGGTATAACAAGGTAGACATGTCTTTCTTTCCTGTTTGCTTTTTTTTTTAACTTTGTACTAAAATACTCCAGCATCTACTTTACCAGCTTCTATCATTTTTTAAGCTTCCAAAGGGGAAAAGAGAGTTGGTAAGTCTCTGCTTGTGAAATCTTATGCTTGCTCTATCAAAAAAAAAAAAAAAATCACAAAATACAAAACATCCAGGATGCTGCCAGTTAATAAAACTGAAGCAGAAAATGTACAAGTCTTAAACAGTTAATCAGTCTGACCTTCTTTAGCAAGCTGCCAATTTTACATTTAATGAACTTAAAGCCACAGAGAATCAAAAAATAGATTTTAATTTGAGTGTAGAATATTGGAACAGATTTTGATAAAGTGCAAAAATCCAGTGAACTCAGGTTAAATTTATTTCAACCCTACCCAGGCTGAATATTGAGGGGGAAGATCTGGAGTAACTCCCAGATGTGCTAGGTGAAATAATATTGAGAGAGCCCTGCCTAGCTGCACCTGTGCTCAAGTAGGACATCTCATAATTTCTAGCCTCTGGTACTCCTCCTAATTTAACATAAGGTCACCACAGGAATATGAAGGTTATATTCCTACTAATAAAGACAGTAAAGTAAGCACTTATGTTTCTTTGCCCAACATACTGGCCAAAAGATAAATACAGAATACATATGCATACTTTTCAAATAAAAGAAGACAAACAGAAGTGCCTCTGCATTGTGCCTTAATGTCATTCTTCTCTTACATTTGCTTCCATTTTGACCAAGTGAGGAATAGGGAACTCATTCTCAAAATATTCCTGTTGTCTGAATTAAGGATTTTAAGTACACATTGATAAATGTGGCTTTTTTGTTTAGCATTAGCTACAAGTTCTGAGGTTTACAGACTGAAGGAAGACTTAGGAAAATATTTTATCAAACTTACTAGTACATAGAACCTTTGCAAAAAAAAAAATTTTTTATTTCCACCGTTAAGATTCTTTTTTTTTTTTTTTTGTTCCCAAGGTCTGACACATTTCTAAAAGTGGGAATATTATTTAGGTGCAAAAGGAAATATTCTCCTAGGTATCAAATAGTTAAAGGTAATGTGGTTCAAAACAGACTTGGTTAAAGTCTTCTAAATGTAGTGACTGAACTGATTTACAATCAAAACCGGGAAATGAAGTGGTAATTCAGAGGTTGCTGATTACACCTCCACATTTCACCTAATTAATTTTATAGGAGGCAAAGTTCTTGAAAATAACAAGATGATCAAATGTACAGATATAAAACCTGTAACCTCAACATTTTCTATGCTCTTAACGTAAATTATTGCTAATTAACAAGAATTATATTCTAATGTATGAAATACGTTTAACATCGGTCTCCTTGCAAAACATTTGGCTAGTGGTGTTCAGAGAAATACCAAAACGTGTTTTTATCATTGCTGGTATATTATTAAAAATCAGACAAAGTGGGACACAAAGAAAATATGAAAATACAATTCTCATGGTGTAGTCTACTGATTTGCATTGACATCTTTTCTCAGTGGCAATCAACATTTCCTTTCTGGGCATCTGATAATTTCTCTGCATTTTAATGCAAATTCCCCTTTCCCTAAAAACCTTCCTAACCCTCAGCCATTTACCCCCTCCCTCAATTCAACTCCATCCTCCTTCGCCCCAACAATACCAACATTTCTAAGCTCCGGCCTAAACTCCGGCTACAAAGCAGGGAGTCCTCGATTGAAGTGGAAGGGAGTGGGCAAATAATCATAATAATTAGCCGCGAATTCTCTCTACGAGGGGAGGAAGAAATAGAAAATAAAATGCTTCTACGTTCAAACAGCAAGACAGCCTGGAACGTCTCAATGTCTCAGTGACAGACTGAGATCTCTTTCCTCTCTGTGTAGTTGCAAAAGAATAAATTTAAGGGAAAAAAATAATCCTTATAGGAAATGTTGGTAAGGAGCGAGCAAAACGAGAGCTGCCGGGGAGCGGAGGGGGAGGGGGAAAGGGAGATGTGTCTTCAAGTTTGCTTTCCAAGTCCTTCTCCTTGATTGTCTTAACAGGGTAAAGAAGCAAACGGAGGCTGAAATTCAGAGAGGAAAAGCAAAGAAACAAAAGCAAAGCCGGGGGCTACAGGCCCGGGGCAGGGGCCCCGGCAAGGGTGGACCGTGCAGAAAGTGAAGTTGGGCGCGGGGACTCTGAGGCACAAAGCGAGCAGCGTGCTGGCTGCAGGCTCCCGCCGCGCTTGCTGCGAACACGTGCAGCAGCGGCCGCGGGGCCTTGGGGCCCGGGGGCCCGGAGACGGAGGGCAGCCAGGGGCCCTGACTGCTGCCTCCATGCCCGTCCAGCTCGGCCAGCTCGGCCGCGGGGTGACGGTTCCCTGGGCCTGCCAGTTGGTGAAAAAGGAAGTGAGGTTTGGAAAACCCGGCTGGTTAACCTGGTGCAGTCTCAGTATCTCCGCACACACCTCAAGCGCGGGTCCTGAGATTCATTCTGTGTCCACAAGCTTACACTTTTTACTTTGGGGGATCTCTGCAAATGCATTTCCCCCGCAATTCTGGGCACTGGGTGTGCGCGGCGGCGGCTGCGGTTATTCATTATTAATGACGCTGCCTGCCCGCATCATTATGATGATAACTATTACTATTGTTGTGATTCCGAGCTCCGAGGCGAGAGGGGGGGTGTCGGGCTGCAGAGCCGCCCAGCAAGCCAGCCGAGGCCACCGAGGTCTGTGCTTTGCATGGGGGTGAGGGGGTGGAAGAAGTGAGGCTGGAGACCAAGTGCAAACTTGCCATATCCCCCTCTTCGGCCATGCCCCGAAGCCCTAGAGCGCGCACTCCCGGTTCCTCCCTACCAAAAATGCCGGCCCCGAAAGAAAGCGAAAACTGCACCGTGCTCCGAGCCCGGCGCGCGCTGGTCTCAGCTCGCGCACGGGGGTGTCGGCCGCGCGCCCGGTCGCTTCTCCGCGGCCCCGGCCAGAAGCATTTTTAAAGTCAAAATGAAGAACAAAGACATACGGGGTGATGGGGGAGAGAAAGGGAATTCTGCCTAACCGTTCTTTCCCCCCACCCCCACCCTCGCAAAGCTCGTTCCTCCCCGGACGAGAATCGCCGGGCAGGAGGTGGGGGAGGCTCTGGTACAGGTTCAAGTTCGCTGAGCTTTCTTGATCTTGTTCTGCCTCCTAGCGACCGAATGGCTCATTCAGCCCACATAGCAGAGGCGGGGGGCGGGGGGGTGGTACTGAGGACCGGGATGGCTCCTGCCCCCTCTGAGCACCCAGAAAATGAGGACAGAAAGAAGTGGCCCCCTCACCCCCTCCCAAACTGGCCCTTTAACCCCGGGACAGGAGGAGGGGGTACTAACCCTCCCAGCCTAGAGTGTCCCAAGATGGACCCAGGAGGGAGAGGGGTACGAGGGAGCAGCCTGGACTGCGCGCCCCGGTCTGTCCTTTGAGCCCCCACTGCATCCTTCCGAAGAAGGGCCTGACTTTCCCGAGTCCTGCGAACACTGCCCTTCCTTCCCGCCGGTACCTGGCCGGGCTGTAACTTCACACCGCCGCGCGCCGCGTCTGATCCGCATCCGGCGCGGCCGGGGGAGTTGGGGGCGGGGGAGAGCGGCGAGGGAGGGATGCGAGGGGGTGGGGAGAGGGAGGGCCGCGCAACGTGCCGGGGTGGGGGAGCTTCCGAAGTGTGTGACAAGTTCCAGGGCCCAGTGAAAAATTAAATTCCCTGTGCGCACCCCCCACCACCACCCCTTTAAAAAAACACAGAACCAAGTATAGGTGGTCCTTTAAAACTGCATCAAAAATTTAAAGTAAGAATCATAAATTGAGTAGGGGGGGAATGTGGGCCCTCACGCCTTTCTTTCCCTTGCTGCCAAACTTTCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGCTGTGGACAAGAGACGTCTGAGAAAGTACCCAGGGCGGAGGGGAGGGGAGGCGCAGAACGCGCTTTTACAGTTGCCCTGCAAAATAAAAATGCTTTGCAAAGCCGAGTTTCACCCAGCCGATTTCGCAGTCTGGGAGGTCGAGAAGAGGTCTCGGCATTGTGCTGGGGGCGGACCAGGACCACGGGCCAGGCTGGCGCGGAGACACTGCGTGGCCTGCCGCCGTGCCTGGCGGGTGGGCGCCGGGCGCCGGGTGGGCGATCCGGGGCTGGGCTGGGGCGCGGCGAGGTCGGGCAAGGCCCGGGCGAGGCCAGGCCGCCGCCGCCGCCTGCTCCGGGGCTGCCGCGCCGCGCTCGGTCCTCTGTCTGTTTGTTGGCAGGAGGCTCCCGCACACGCGGTGCTTGTAAACATTCAGACACGAGATTTTTCCCAATCAAAATCCACTTCCACTTTTTTTGAAAATCTTCCAAAAAATAGTAAGAGGAGGGAGTTCCTCTCTCCCTCTCCGTGCCGTCGGCGCCCTAAGTTTGCAACTGAAGGGGTTTGGGGGAAGAGGGTGATTGTAAATTTTTTTCTAGATGAGAGATTGTGAGATTTTTGCAGGGGGGCTGGTGGGGGAGTCAAAGAGAAGGCCGTCACAGAAAAGGGTTGGCAGAGCGTTTGGCTTCGGTTTGGGGGCAAGAAATTGTACATTCTCTTGCCTTGTTTTATTTATTTTATTTTTATGTATTTATTTATTTATGTGCCAGTCTTCTCCTTGCTGCCTCTGAGGTTCGGTCGGGAGGGGAGGGCAGCGGCAACCCAGGAGGCAGCAGTCCGGGCTCCCTCCCTCCCTCTCCCGCGTGCCCCCGGCCGCCTCCTCCCCCGGCCCTAGCTCCTGCCCTTCGGCGGCGGCGGCGGCGGCGGCGCGGGAGGGCAAGCGCGAGGAGCCGGCACAAAAGGCAGCGGGACAAACACCCACCTCTGGCCGGAACAAAAGGCGGCAGTGCCGGCCGCGTCTCCCGTCCTTCCCGGTCCCACGGCTCTCCCCGTCGCCGCGGCCCCTCTCCCGACTCCGCGGACTCAGGAGCGCCGGGGGCCCCTTTCCACAGTGCCACTTTCTCACTATTGTGGGGATGACTACTTTCCTCCCGCTGCACACTTGACCGTGAGCGCGCTGGTGTCCAAAAGCCAGTCTCACCTCTTTTCTCCCCGGGAATCGTTTTTTAGACTTGTACTCACTCCCTCCCTACCCCCCCATTTTCTTACGGTGAGTGGGAAGCAACCTCCCTTTCCCCACCAGCTCCCACCCCCAGGTTTGCATGTGAGTTGTTCGCAACCTTAGCATTGTTCATTATTTTGCAAAACTGGCGGGGCGGGGGGGGAGTGGAATCATTGCATTCCTTTTCGAAAAGAGAAATAAAGCGGCGGAAAGGAGGAAAGAGGAGGAGTCAAATTTTTGTAAAATTAAATAAAATTAAAAGGTGCGTGCTGTCTCAAAAGTGCATACACGGCAATGGTTCCAGATGGGATGAGGGTTTTTTCCCCCTTTATCTCTTTTACCTCGACTCTCGGAGGTTTTTCTCGTGAAAAATTTAAAAATGCATGCACACACCCCTCTCTCCCCCTCGCTTTTGCTTCTAGTCCTGCGCGCTCTCGTGATTATTAATAATTATTATTACTATTATTGGGTTACTTAC:A p.(Pro19LeufsTer5) NC_000002.12:60546300:CTGTGGTTGGAGAAACAAAAGCACAATTATTAGAGTGCCAGAGAGGACAGAAAGGGGAGAAGCACATCTCAACCCCATGCCATCCCACCACATCATGTAAAGTGTTTCTAGGCTTCTCTATATAATACCCAGAAAATGTGAGCATACAAAAAGTACAAGGATGTGAAGGTTATCAACCAGAGAGCAAATTTGTCAATGAGGCAAATCATCACATATGTAAAGAAAACAGTCTTCCTTGCATAACTCCAGAGAACACACACACACACATATACCCATGCACACACCCACAGCAACAAATGTGTCTGGTTTGTAAGTTTAGAAAGAATGCTACTTAAATAGTTAACACAGGGAACATAAAGAAAGCTTAAATAATAACTACAAGAAAAACTGGTTAAAAAAAAAAGTGGATAGAAACCAAATTTGTTTCTTTTTTCCTATACACCAAGTTGTCCATTGTGCCAAAGAATGAAAGGAGAGGTGAATAAACACACACACCCTTTGTGTGTGAATGTATATACTCCTAAGTAAACAGACATGGCTTCATAAATTAGAAAGCTACTATGTCACATGAAAAATGTGCCACATTTACACTGCTGTAATAAGAAAACGACTGCATGCACCTATGAAACGGATCTAAATAATAATCATGTCGCAGCATAATTCACACTGCCAAAAACCTTTCTGCTCTCACTCTCAGCAGTGCCACAAAATCAAAGAAATACCAAATGCACGGGCAGTATTTCTCAGACACATTAGCTAAATGGGATACTTTTGAGTACTTAAGAAAATAAGCCAATTAGTCATTTTTTTTTTATTCTGAGAAATGGAATGCCTATAATATTCTAAACATGTTTGCACTTGGTGGCATCTATGATATAAAAATCAGAATGGTCAAGCAAACACCACATTTCAGAGCAAGGCTGAGAAGTCCTTTCTTTAGACTTGAAATACTTCGCCTAATGTTGTCAAAGTGGACTAATTTTCTGAATGAGCTCCAAAATGCTTCATTATGAGACTATTTCTGCACACATAATCACCAGCGGATGGTATAACAAGGTAGACATGTCTTTCTTTCCTGTTTGCTTTTTTTTTTAACTTTGTACTAAAATACTCCAGCATCTACTTTACCAGCTTCTATCATTTTTTAAGCTTCCAAAGGGGAAAAGAGAGTTGGTAAGTCTCTGCTTGTGAAATCTTATGCTTGCTCTATCAAAAAAAAAAAAAAAATCACAAAATACAAAACATCCAGGATGCTGCCAGTTAATAAAACTGAAGCAGAAAATGTACAAGTCTTAAACAGTTAATCAGTCTGACCTTCTTTAGCAAGCTGCCAATTTTACATTTAATGAACTTAAAGCCACAGAGAATCAAAAAATAGATTTTAATTTGAGTGTAGAATATTGGAACAGATTTTGATAAAGTGCAAAAATCCAGTGAACTCAGGTTAAATTTATTTCAACCCTACCCAGGCTGAATATTGAGGGGGAAGATCTGGAGTAACTCCCAGATGTGCTAGGTGAAATAATATTGAGAGAGCCCTGCCTAGCTGCACCTGTGCTCAAGTAGGACATCTCATAATTTCTAGCCTCTGGTACTCCTCCTAATTTAACATAAGGTCACCACAGGAATATGAAGGTTATATTCCTACTAATAAAGACAGTAAAGTAAGCACTTATGTTTCTTTGCCCAACATACTGGCCAAAAGATAAATACAGAATACATATGCATACTTTTCAAATAAAAGAAGACAAACAGAAGTGCCTCTGCATTGTGCCTTAATGTCATTCTTCTCTTACATTTGCTTCCATTTTGACCAAGTGAGGAATAGGGAACTCATTCTCAAAATATTCCTGTTGTCTGAATTAAGGATTTTAAGTACACATTGATAAATGTGGCTTTTTTGTTTAGCATTAGCTACAAGTTCTGAGGTTTACAGACTGAAGGAAGACTTAGGAAAATATTTTATCAAACTTACTAGTACATAGAACCTTTGCAAAAAAAAAAATTTTTTATTTCCACCGTTAAGATTCTTTTTTTTTTTTTTTTGTTCCCAAGGTCTGACACATTTCTAAAAGTGGGAATATTATTTAGGTGCAAAAGGAAATATTCTCCTAGGTATCAAATAGTTAAAGGTAATGTGGTTCAAAACAGACTTGGTTAAAGTCTTCTAAATGTAGTGACTGAACTGATTTACAATCAAAACCGGGAAATGAAGTGGTAATTCAGAGGTTGCTGATTACACCTCCACATTTCACCTAATTAATTTTATAGGAGGCAAAGTTCTTGAAAATAACAAGATGATCAAATGTACAGATATAAAACCTGTAACCTCAACATTTTCTATGCTCTTAACGTAAATTATTGCTAATTAACAAGAATTATATTCTAATGTATGAAATACGTTTAACATCGGTCTCCTTGCAAAACATTTGGCTAGTGGTGTTCAGAGAAATACCAAAACGTGTTTTTATCATTGCTGGTATATTATTAAAAATCAGACAAAGTGGGACACAAAGAAAATATGAAAATACAATTCTCATGGTGTAGTCTACTGATTTGCATTGACATCTTTTCTCAGTGGCAATCAACATTTCCTTTCTGGGCATCTGATAATTTCTCTGCATTTTAATGCAAATTCCCCTTTCCCTAAAAACCTTCCTAACCCTCAGCCATTTACCCCCTCCCTCAATTCAACTCCATCCTCCTTCGCCCCAACAATACCAACATTTCTAAGCTCCGGCCTAAACTCCGGCTACAAAGCAGGGAGTCCTCGATTGAAGTGGAAGGGAGTGGGCAAATAATCATAATAATTAGCCGCGAATTCTCTCTACGAGGGGAGGAAGAAATAGAAAATAAAATGCTTCTACGTTCAAACAGCAAGACAGCCTGGAACGTCTCAATGTCTCAGTGACAGACTGAGATCTCTTTCCTCTCTGTGTAGTTGCAAAAGAATAAATTTAAGGGAAAAAAATAATCCTTATAGGAAATGTTGGTAAGGAGCGAGCAAAACGAGAGCTGCCGGGGAGCGGAGGGGGAGGGGGAAAGGGAGATGTGTCTTCAAGTTTGCTTTCCAAGTCCTTCTCCTTGATTGTCTTAACAGGGTAAAGAAGCAAACGGAGGCTGAAATTCAGAGAGGAAAAGCAAAGAAACAAAAGCAAAGCCGGGGGCTACAGGCCCGGGGCAGGGGCCCCGGCAAGGGTGGACCGTGCAGAAAGTGAAGTTGGGCGCGGGGACTCTGAGGCACAAAGCGAGCAGCGTGCTGGCTGCAGGCTCCCGCCGCGCTTGCTGCGAACACGTGCAGCAGCGGCCGCGGGGCCTTGGGGCCCGGGGGCCCGGAGACGGAGGGCAGCCAGGGGCCCTGACTGCTGCCTCCATGCCCGTCCAGCTCGGCCAGCTCGGCCGCGGGGTGACGGTTCCCTGGGCCTGCCAGTTGGTGAAAAAGGAAGTGAGGTTTGGAAAACCCGGCTGGTTAACCTGGTGCAGTCTCAGTATCTCCGCACACACCTCAAGCGCGGGTCCTGAGATTCATTCTGTGTCCACAAGCTTACACTTTTTACTTTGGGGGATCTCTGCAAATGCATTTCCCCCGCAATTCTGGGCACTGGGTGTGCGCGGCGGCGGCTGCGGTTATTCATTATTAATGACGCTGCCTGCCCGCATCATTATGATGATAACTATTACTATTGTTGTGATTCCGAGCTCCGAGGCGAGAGGGGGGGTGTCGGGCTGCAGAGCCGCCCAGCAAGCCAGCCGAGGCCACCGAGGTCTGTGCTTTGCATGGGGGTGAGGGGGTGGAAGAAGTGAGGCTGGAGACCAAGTGCAAACTTGCCATATCCCCCTCTTCGGCCATGCCCCGAAGCCCTAGAGCGCGCACTCCCGGTTCCTCCCTACCAAAAATGCCGGCCCCGAAAGAAAGCGAAAACTGCACCGTGCTCCGAGCCCGGCGCGCGCTGGTCTCAGCTCGCGCACGGGGGTGTCGGCCGCGCGCCCGGTCGCTTCTCCGCGGCCCCGGCCAGAAGCATTTTTAAAGTCAAAATGAAGAACAAAGACATACGGGGTGATGGGGGAGAGAAAGGGAATTCTGCCTAACCGTTCTTTCCCCCCACCCCCACCCTCGCAAAGCTCGTTCCTCCCCGGACGAGAATCGCCGGGCAGGAGGTGGGGGAGGCTCTGGTACAGGTTCAAGTTCGCTGAGCTTTCTTGATCTTGTTCTGCCTCCTAGCGACCGAATGGCTCATTCAGCCCACATAGCAGAGGCGGGGGGCGGGGGGGTGGTACTGAGGACCGGGATGGCTCCTGCCCCCTCTGAGCACCCAGAAAATGAGGACAGAAAGAAGTGGCCCCCTCACCCCCTCCCAAACTGGCCCTTTAACCCCGGGACAGGAGGAGGGGGTACTAACCCTCCCAGCCTAGAGTGTCCCAAGATGGACCCAGGAGGGAGAGGGGTACGAGGGAGCAGCCTGGACTGCGCGCCCCGGTCTGTCCTTTGAGCCCCCACTGCATCCTTCCGAAGAAGGGCCTGACTTTCCCGAGTCCTGCGAACACTGCCCTTCCTTCCCGCCGGTACCTGGCCGGGCTGTAACTTCACACCGCCGCGCGCCGCGTCTGATCCGCATCCGGCGCGGCCGGGGGAGTTGGGGGCGGGGGAGAGCGGCGAGGGAGGGATGCGAGGGGGTGGGGAGAGGGAGGGCCGCGCAACGTGCCGGGGTGGGGGAGCTTCCGAAGTGTGTGACAAGTTCCAGGGCCCAGTGAAAAATTAAATTCCCTGTGCGCACCCCCCACCACCACCCCTTTAAAAAAACACAGAACCAAGTATAGGTGGTCCTTTAAAACTGCATCAAAAATTTAAAGTAAGAATCATAAATTGAGTAGGGGGGGAATGTGGGCCCTCACGCCTTTCTTTCCCTTGCTGCCAAACTTTCCTAAGTGCCCACCGCCCGCCTTTCCAGGCGCAGTCAGCGGGAGACAGCCACCACCACCAGCTCTTATACAGACTCACAAGAACCTCAGACCAAGCCAGGCCTGGGGAAGAGGGCAAGACCCAAAGGGTGAAGTGCTCGGGGTCCCAGGATCCAGCGCCCTTAAAATGCACACTCAAACACACTTCTCCCCTGCCCTTCCCCGGCAACCCCGCCACCTGGCCTAGTCGTGCTCGGGGCGCAGGGGGACTGGTGACCAGACCGGGCGGGGTGGGGGGTGGGCAGGGAAAGCACGTGGTGACCTCCTCGCGGTCCCGAGCTGTGGACAAGAGACGTCTGAGAAAGTACCCAGGGCGGAGGGGAGGGGAGGCGCAGAACGCGCTTTTACAGTTGCCCTGCAAAATAAAAATGCTTTGCAAAGCCGAGTTTCACCCAGCCGATTTCGCAGTCTGGGAGGTCGAGAAGAGGTCTCGGCATTGTGCTGGGGGCGGACCAGGACCACGGGCCAGGCTGGCGCGGAGACACTGCGTGGCCTGCCGCCGTGCCTGGCGGGTGGGCGCCGGGCGCCGGGTGGGCGATCCGGGGCTGGGCTGGGGCGCGGCGAGGTCGGGCAAGGCCCGGGCGAGGCCAGGCCGCCGCCGCCGCCTGCTCCGGGGCTGCCGCGCCGCGCTCGGTCCTCTGTCTGTTTGTTGGCAGGAGGCTCCCGCACACGCGGTGCTTGTAAACATTCAGACACGAGATTTTTCCCAATCAAAATCCACTTCCACTTTTTTTGAAAATCTTCCAAAAAATAGTAAGAGGAGGGAGTTCCTCTCTCCCTCTCCGTGCCGTCGGCGCCCTAAGTTTGCAACTGAAGGGGTTTGGGGGAAGAGGGTGATTGTAAATTTTTTTCTAGATGAGAGATTGTGAGATTTTTGCAGGGGGGCTGGTGGGGGAGTCAAAGAGAAGGCCGTCACAGAAAAGGGTTGGCAGAGCGTTTGGCTTCGGTTTGGGGGCAAGAAATTGTACATTCTCTTGCCTTGTTTTATTTATTTTATTTTTATGTATTTATTTATTTATGTGCCAGTCTTCTCCTTGCTGCCTCTGAGGTTCGGTCGGGAGGGGAGGGCAGCGGCAACCCAGGAGGCAGCAGTCCGGGCTCCCTCCCTCCCTCTCCCGCGTGCCCCCGGCCGCCTCCTCCCCCGGCCCTAGCTCCTGCCCTTCGGCGGCGGCGGCGGCGGCGGCGCGGGAGGGCAAGCGCGAGGAGCCGGCACAAAAGGCAGCGGGACAAACACCCACCTCTGGCCGGAACAAAAGGCGGCAGTGCCGGCCGCGTCTCCCGTCCTTCCCGGTCCCACGGCTCTCCCCGTCGCCGCGGCCCCTCTCCCGACTCCGCGGACTCAGGAGCGCCGGGGGCCCCTTTCCACAGTGCCACTTTCTCACTATTGTGGGGATGACTACTTTCCTCCCGCTGCACACTTGACCGTGAGCGCGCTGGTGTCCAAAAGCCAGTCTCACCTCTTTTCTCCCCGGGAATCGTTTTTTAGACTTGTACTCACTCCCTCCCTACCCCCCCATTTTCTTACGGTGAGTGGGAAGCAACCTCCCTTTCCCCACCAGCTCCCACCCCCAGGTTTGCATGTGAGTTGTTCGCAACCTTAGCATTGTTCATTATTTTGCAAAACTGGCGGGGCGGGGGGGGAGTGGAATCATTGCATTCCTTTTCGAAAAGAGAAATAAAGCGGCGGAAAGGAGGAAAGAGGAGGAGTCAAATTTTTGTAAAATTAAATAAAATTAAAAGGTGCGTGCTGTCTCAAAAGTGCATACACGGCAATGGTTCCAGATGGGATGAGGGTTTTTTCCCCCTTTATCTCTTTTACCTCGACTCTCGGAGGTTTTTCTCGTGAAAAATTTAAAAATGCATGCACACACCCCTCTCTCCCCCTCGCTTTTGCTTCTAGTCCTGCGCGCTCTCGTGATTATTAATAATTATTATTACTATTATTGGGTTACTTAC:A Analogous +NM_001042399.2:c.346G>T NP_001035858.1:p.Glu116Ter NC_000012.12:94403240:C:A p.(Glu116Ter) NC_000012.12:94403240:C:A p.(Glu116Ter) NC_000012.12:94403240:C:A Identity +NM_001243571.2:c.795T>G NP_001230500.1:p.Tyr265Ter NC_000011.10:95847881:A:C p.(Tyr265Ter) NC_000011.10:95847881:A:C p.(Tyr265Ter) NC_000011.10:95847881:A:C Identity +NM_000834.5:c.996del NP_000825.2:p.Asn333fs NC_000012.12:13753330:GG:G p.(Asn333IlefsTer3) NC_000012.12:13753330:GG:G p.(Asn333IlefsTer3) NC_000012.12:13753330:G: Analogous +NM_000244.4:c.974C>G NP_000235.3:p.Pro325Arg NC_000011.10:64806321:G:C p.(Pro325Arg) NC_000011.10:64806321:G:C p.(Pro325Arg) NC_000011.10:64806321:G:C Identity +NM_006269.2:c.3157del NP_006260.1:p.Tyr1053fs NC_000008.11:54627036:TTT:TT p.(Tyr1053ThrfsTer4) NC_000008.11:54627036:TTT:TT p.(Tyr1053ThrfsTer4) NC_000008.11:54627038:T: Analogous +NM_000546.6:c.576G>C NP_000537.3:p.Gln192His NC_000017.11:7674954:C:G p.(Gln192His) NC_000017.11:7674954:C:G p.(Gln192His) NC_000017.11:7674954:C:G Identity +NM_001169122.2:c.2693G>A NP_001162593.1:p.Ser898Asn NC_000023.11:148962815:G:A p.(Ser898Asn) NC_000023.11:148962815:G:A p.(Ser898Asn) NC_000023.11:148962815:G:A Identity +NM_000153.4:c.764C>G NP_000144.2:p.Pro255Arg NC_000014.9:87968478:G:C p.(Pro255Arg) NC_000014.9:87968478:G:C p.(Pro255Arg) NC_000014.9:87968478:G:C Identity +NM_004959.5:c.100A>T NP_004950.2:p.Lys34Ter NC_000009.12:124503295:T:A p.(Lys34Ter) NC_000009.12:124503295:T:A p.(Lys34Ter) NC_000009.12:124503295:T:A Identity +NM_003235.5:c.649dup NP_003226.4:p.Ala217fs NC_000008.11:132881872:G:GG p.(Ala217GlyfsTer14) NC_000008.11:132881872:G:GG p.(Ala217GlyfsTer14) ERR:SPDI Analogous +NM_206933.4:c.7067A>G NP_996816.3:p.Asn2356Ser NC_000001.11:215965369:T:C p.(Asn2356Ser) NC_000001.11:215965369:T:C p.(Asn2356Ser) NC_000001.11:215965369:T:C Identity +NM_000202.8:c.403A>G NP_000193.1:p.Lys135Glu NC_000023.11:149503326:T:C p.(Lys135Glu) NC_000023.11:149503326:T:C p.(Lys135Glu) NC_000023.11:149503326:T:C Identity +NM_000527.5:c.1255dup NP_000518.1:p.Tyr419fs NC_000019.10:11113345:T:TT p.(Tyr419LeufsTer22) NC_000019.10:11113345:T:TT p.(Tyr419LeufsTer22) ERR:SPDI Analogous +NM_001145294.2:c.941A>G NP_001138766.1:p.Glu314Gly NC_000003.12:25736085:T:C p.(Glu314Gly) NC_000003.12:25736085:T:C p.(Glu314Gly) NC_000003.12:25736085:T:C Identity +NM_001278055.2:c.2857_2860del NP_001264984.1:p.Glu953fs NC_000013.11:23340574:TTTCTTT:TTT p.(Glu953ArgfsTer25) NC_000013.11:23340574:TTTCTTT:TTT p.(Glu953ArgfsTer25) NC_000013.11:23340574:TTTC: Analogous +NM_001350748.2:c.3609A>T NP_001337677.1:p.Arg1203Ser NC_000013.11:101083771:T:A p.(Arg1203Ser) NC_000013.11:101083771:T:A p.(Arg1203Ser) NC_000013.11:101083771:T:A Identity +NM_000492.4:c.5A>C NP_000483.3:p.Gln2Pro NC_000007.14:117480098:A:C p.(Gln2Pro) NC_000007.14:117480098:A:C p.(Gln2Pro) NC_000007.14:117480098:A:C Identity +NM_001040142.2:c.638T>A NP_001035232.1:p.Val213Asp NC_000002.12:165309383:T:A p.(Val213Asp) NC_000002.12:165309383:T:A p.(Val213Asp) NC_000002.12:165309383:T:A Identity +NM_000076.2:c.835C>A NP_000067.1:p.Arg279Ser NC_000011.10:2884119:G:T p.(Arg279Ser) NC_000011.10:2884119:G:T p.(Arg279Ser) NC_000011.10:2884119:G:T Identity +NM_001190709.2:c.1451C>G NP_001177638.1:p.Ala484Gly NC_000001.11:103014514:G:C p.(Ala484Gly) NC_000001.11:103014514:G:C p.(Ala484Gly) NC_000001.11:103014514:G:C Identity +NM_001281463.1:c.3296G>A NP_001268392.1:p.Arg1099His NC_000023.11:53382306:C:T p.(Arg1099His) NC_000023.11:53382306:C:T p.(Arg1099His) NC_000023.11:53382306:C:T Identity +NM_005413.4:c.581G>C NP_005404.1:p.Arg194Pro NC_000002.12:44942684:G:C p.(Arg194Pro) NC_000002.12:44942684:G:C p.(Arg194Pro) NC_000002.12:44942684:G:C Identity +NM_001170629.2:c.1351A>T NP_001164100.1:p.Arg451Ter NC_000014.9:21428118:T:A p.(Arg451Ter) NC_000014.9:21428118:T:A p.(Arg451Ter) NC_000014.9:21428118:T:A Identity +NM_001363711.2:c.4521del NP_001350640.1:p.Gln1508fs NC_000015.10:45094565:T: p.(Gln1508ArgfsTer15) NC_000015.10:45094565:T: p.(Gln1508ArgfsTer15) NC_000015.10:45094565:T: Analogous +NM_001177984.3:c.3884T>C NP_001171455.1:p.Ile1295Thr NC_000012.12:51786605:T:C p.(Ile1295Thr) NC_000012.12:51786605:T:C p.(Ile1295Thr) NC_000012.12:51786605:T:C Identity +NM_001130455.2:c.3102G>A NP_001123927.1:p.Met1034Ile NC_000002.12:71570665:G:A p.(Met1034Ile) NC_000002.12:71570665:G:A p.(Met1034Ile) NC_000002.12:71570665:G:A Identity +NM_206933.4:c.13885G>A NP_996816.3:p.Glu4629Lys NC_000001.11:215671219:C:T p.(Glu4629Lys) NC_000001.11:215671219:C:T p.(Glu4629Lys) NC_000001.11:215671219:C:T Identity +NM_014712.3:c.1245dup NP_055527.1:p.Glu416fs NC_000016.10:30964981:CCCCCC:CCCCCCC p.(Glu416ArgfsTer37) NC_000016.10:30964981:CCCCCC:CCCCCCC p.(Glu416ArgfsTer37) ERR:SPDI Analogous +NM_058216.3:c.664C>T NP_478123.1:p.Gln222Ter NC_000017.11:58703287:C:T p.(Gln222Ter) NC_000017.11:58703287:C:T p.(Gln222Ter) NC_000017.11:58703287:C:T Identity +NM_001126335.2:c.992C>T NP_001119807.1:p.Ala331Val NC_000019.10:32843936:G:A p.(Ala331Val) NC_000019.10:32843936:G:A p.(Ala331Val) NC_000019.10:32843936:G:A Identity +NM_000023.4:c.577A>T NP_000014.1:p.Lys193Ter NC_000017.11:50168564:A:T p.(Lys193Ter) NC_000017.11:50168564:A:T p.(Lys193Ter) NC_000017.11:50168564:A:T Identity +NM_032520.5:c.16G>T NP_115909.1:p.Ala6Ser NC_000016.10:1351980:G:T p.(Ala6Ser) NC_000016.10:1351980:G:T p.(Ala6Ser) NC_000016.10:1351980:G:T Identity +NM_000112.4:c.1427A>G NP_000103.2:p.Tyr476Cys NC_000005.10:149981019:A:G p.(Tyr476Cys) NC_000005.10:149981019:A:G p.(Tyr476Cys) NC_000005.10:149981019:A:G Identity +NM_000521.4:c.703C>T NP_000512.2:p.His235Tyr NC_000005.10:74705251:C:T p.(His235Tyr) NC_000005.10:74705251:C:T p.(His235Tyr) NC_000005.10:74705251:C:T Identity +NM_001206833.2:c.1180T>G NP_001193762.1:p.Ser394Ala NC_000011.10:65718660:T:G p.(Ser394Ala) NC_000011.10:65718660:T:G p.(Ser394Ala) NC_000011.10:65718660:T:G Identity +NM_000485.3:c.84C>A NP_000476.1:p.Asp28Glu NC_000016.10:88811652:G:T p.(Asp28Glu) NC_000016.10:88811652:G:T p.(Asp28Glu) NC_000016.10:88811652:G:T Identity +NM_001346201.2:c.2497C>G NP_001333130.1:p.Pro833Ala NC_000012.12:64127885:C:G p.(Pro833Ala) NC_000012.12:64127885:C:G p.(Pro833Ala) NC_000012.12:64127885:C:G Identity +NM_001008389.3:c.698G>T NP_001008390.1:p.Gly233Val NC_000016.10:20348602:C:A p.(Gly233Val) NC_000016.10:20348602:C:A p.(Gly233Val) NC_000016.10:20348602:C:A Identity +NM_000359.3:c.350T>C NP_000350.1:p.Leu117Ser NC_000014.9:24261852:A:G p.(Leu117Ser) NC_000014.9:24261852:A:G p.(Leu117Ser) NC_000014.9:24261852:A:G Identity +NM_000016.6:c.595A>G NP_000007.1:p.Asn199Asp NC_000001.11:75740105:A:G p.(Asn199Asp) NC_000001.11:75740105:A:G p.(Asn199Asp) NC_000001.11:75740105:A:G Identity +NM_001142763.2:c.4343C>T NP_001136235.1:p.Pro1448Leu NC_000010.11:53827431:G:A p.(Pro1448Leu) NC_000010.11:53827431:G:A p.(Pro1448Leu) NC_000010.11:53827431:G:A Identity +NM_001375644.1:c.393A>T NP_001362573.1:p.Arg131Ser NC_000004.12:145639531:A:T p.(Arg131Ser) NC_000004.12:145639531:A:T p.(Arg131Ser) NC_000004.12:145639531:A:T Identity +NM_000352.6:c.2538C>A NP_000343.2:p.His846Gln NC_000011.10:17412683:G:T p.(His846Gln) NC_000011.10:17412683:G:T p.(His846Gln) NC_000011.10:17412683:G:T Identity +NM_001080791.4:c.162_163dup NP_001074260.2:p.Glu55fs NC_000015.10:40562852:CCC:CCCCC p.(Glu55GlyfsTer12) NC_000015.10:40562852:CCC:CCCCC p.(Glu55GlyfsTer12) ERR:SPDI Analogous +NM_001303496.3:c.4535T>C NP_001290425.1:p.Val1512Ala NC_000007.14:93131436:A:G p.(Val1512Ala) NC_000007.14:93131436:A:G p.(Val1512Ala) NC_000007.14:93131436:A:G Identity +NM_001363688.1:c.58G>A NP_001350617.1:p.Glu20Lys NC_000014.9:74493216:C:T p.(Glu20Lys) NC_000014.9:74493216:C:T p.(Glu20Lys) NC_000014.9:74493216:C:T Identity +NM_000070.3:c.1244A>G NP_000061.1:p.Asn415Ser NC_000015.10:42399541:A:G p.(Asn415Ser) NC_000015.10:42399541:A:G p.(Asn415Ser) NC_000015.10:42399541:A:G Identity +NM_000091.5:c.4462G>C NP_000082.2:p.Gly1488Arg NC_000002.12:227307918:G:C p.(Gly1488Arg) NC_000002.12:227307918:G:C p.(Gly1488Arg) NC_000002.12:227307918:G:C Identity +NM_153240.5:c.1928C>T NP_694972.3:p.Pro643Leu NC_000003.12:132699409:G:A p.(Pro643Leu) NC_000003.12:132699409:G:A p.(Pro643Leu) NC_000003.12:132699409:G:A Identity +NM_005787.6:c.2T>C NP_005778.1:p.Met1Thr NC_000003.12:184248938:A:G p.(Met1Thr) NC_000003.12:184248938:A:G p.Met1? NC_000003.12:184248938:A:G Identity +NM_001379141.1:c.1414_1417del NP_001366070.1:p.Glu472fs NC_000018.10:44950752:AGAGA:A p.(Glu472MetfsTer32) NC_000018.10:44950752:AGAGA:A p.(Glu472MetfsTer32) NC_000018.10:44950753:GAGA: Analogous +NM_001256789.3:c.1723del NP_001243718.1:p.Ser575fs NC_000023.11:49224914:A: p.(Ser575LeufsTer21) NC_000023.11:49224914:A: p.(Ser575LeufsTer21) NC_000023.11:49224914:A: Analogous +NM_000504.4:c.1222G>A NP_000495.1:p.Asp408Asn NC_000013.11:113149271:G:A p.(Asp408Asn) NC_000013.11:113149271:G:A p.(Asp408Asn) NC_000013.11:113149271:G:A Identity +NM_001291902.2:c.923_924del NP_001278831.1:p.Val308fs NC_000011.10:68413849:GTG:G p.(Val308AspfsTer16) NC_000011.10:68413849:GTG:G p.(Val308AspfsTer16) NC_000011.10:68413850:TG: Analogous +NM_001288951.2:c.1580T>C NP_001275880.1:p.Leu527Pro NC_000002.12:47024297:T:C p.(Leu527Pro) NC_000002.12:47024297:T:C p.(Leu527Pro) NC_000002.12:47024297:T:C Identity +NM_001193416.3:c.600T>A NP_001180345.1:p.Tyr200Ter NC_000023.11:41343271:T:A p.(Tyr200Ter) NC_000023.11:41343271:T:A p.(Tyr200Ter) NC_000023.11:41343271:T:A Identity +NM_001171933.1:c.1759C>T NP_001165404.1:p.Leu587Phe NC_000010.11:71807685:C:T p.(Leu587Phe) NC_000010.11:71807685:C:T p.(Leu587Phe) NC_000010.11:71807685:C:T Identity +NM_000317.3:c.17G>T NP_000308.1:p.Gly6Val NC_000011.10:112226459:G:T p.(Gly6Val) NC_000011.10:112226459:G:T p.(Gly6Val) NC_000011.10:112226459:G:T Identity +NM_001127214.4:c.522C>G NP_001120686.1:p.Ile174Met NC_000016.10:89101202:C:G p.(Ile174Met) NC_000016.10:89101202:C:G p.(Ile174Met) NC_000016.10:89101202:C:G Identity +NM_001142800.2:c.7649T>C NP_001136272.1:p.Phe2550Ser NC_000006.12:63788178:A:G p.(Phe2550Ser) NC_000006.12:63788178:A:G p.(Phe2550Ser) NC_000006.12:63788178:A:G Identity +NM_000543.5:c.26G>T NP_000534.3:p.Arg9Leu NC_000011.10:6390623:G:T p.(Arg9Leu) NC_000011.10:6390623:G:T p.(Arg9Leu) NC_000011.10:6390623:G:T Identity +NM_000198.4:c.746G>A NP_000189.1:p.Arg249Gln NC_000001.11:119422246:G:A p.(Arg249Gln) NC_000001.11:119422246:G:A p.(Arg249Gln) NC_000001.11:119422246:G:A Identity +NM_001145770.3:c.1561C>G NP_001139242.1:p.Pro521Ala NC_000016.10:57660772:C:G p.(Pro521Ala) NC_000016.10:57660772:C:G p.(Pro521Ala) NC_000016.10:57660772:C:G Identity +NM_005373.3:c.712G>T NP_005364.1:p.Gly238Cys NC_000001.11:43339984:G:T p.(Gly238Cys) NC_000001.11:43339984:G:T p.(Gly238Cys) NC_000001.11:43339984:G:T Identity +NM_005577.4:c.5081C>G NP_005568.2:p.Ser1694Ter NC_000006.12:160548551:G:C p.(Ser1694Ter) NC_000006.12:160548551:G:C p.(Ser1694Ter) NC_000006.12:160548551:G:C Identity +NM_006854.4:c.448dup NP_006845.1:p.His150fs NC_000007.14:6466226:GGG:GGGG p.(His150ProfsTer24) NC_000007.14:6466226:GGG:GGGG p.(His150ProfsTer24) ERR:SPDI Analogous +NM_003659.4:c.197C>T NP_003650.1:p.Ala66Val NC_000002.12:177392985:C:T p.(Ala66Val) NC_000002.12:177392985:C:T p.(Ala66Val) NC_000002.12:177392985:C:T Identity +NM_001039375.3:c.652G>T NP_001034464.1:p.Val218Phe NC_000020.11:13808859:G:T p.(Val218Phe) NC_000020.11:13808859:G:T p.(Val218Phe) NC_000020.11:13808859:G:T Identity +NM_001351059.2:c.989G>A NP_001337988.1:p.Arg330Gln NC_000011.10:68049289:G:A p.(Arg330Gln) NC_000011.10:68049289:G:A p.(Arg330Gln) NC_000011.10:68049289:G:A Identity +NM_001135242.2:c.743C>T NP_001128714.1:p.Thr248Ile NC_000008.11:133248726:G:A p.(Thr248Ile) NC_000008.11:133248726:G:A p.(Thr248Ile) NC_000008.11:133248726:G:A Identity +NM_001039885.3:c.395G>C NP_001034974.1:p.Gly132Ala NC_000019.10:46755844:G:C p.(Gly132Ala) NC_000019.10:46755844:G:C p.(Gly132Ala) NC_000019.10:46755844:G:C Identity +NM_025114.4:c.2670A>C NP_079390.3:p.Gln890His NC_000012.12:88106821:T:G p.(Gln890His) NC_000012.12:88106821:T:G p.(Gln890His) NC_000012.12:88106821:T:G Identity +NM_000398.7:c.806C>T NP_000389.1:p.Pro269Leu NC_000022.11:42619872:G:A p.(Pro269Leu) NC_000022.11:42619872:G:A p.(Pro269Leu) NC_000022.11:42619872:G:A Identity +NM_001324112.2:c.67del NP_001311041.1:p.Ala23fs NC_000008.11:64798520:CC:C p.(Ala23ProfsTer26) NC_000008.11:64798520:CC:C p.(Ala23ProfsTer26) NC_000008.11:64798520:C: Analogous +NM_001190992.2:c.3G>A NP_001177921.1:p.Met1Ile NC_000003.12:155853994:C:T p.(Met1Ile) NC_000003.12:155853994:C:T p.Met1? NC_000003.12:155853994:C:T Identity +NM_001363850.1:c.1471C>T NP_001350779.1:p.Gln491Ter NC_000016.10:89546678:C:T p.(Gln491Ter) NC_000016.10:89546678:C:T p.(Gln491Ter) NC_000016.10:89546678:C:T Identity +NM_024306.5:c.822del NP_077282.3:p.Val275fs NC_000016.10:74716563:A: p.(Val275CysfsTer6) NC_000016.10:74716563:A: p.(Val275CysfsTer6) NC_000016.10:74716563:A: Analogous +NM_001363823.2:c.1463C>T NP_001350752.1:p.Pro488Leu NC_000002.12:32137160:C:T p.(Pro488Leu) NC_000002.12:32137160:C:T p.(Pro488Leu) NC_000002.12:32137160:C:T Identity +NM_001079846.1:c.2303T>C NP_001073315.1:p.Met768Thr NC_000016.10:3773796:A:G p.(Met768Thr) NC_000016.10:3773796:A:G p.(Met768Thr) NC_000016.10:3773796:A:G Identity +NM_001201543.2:c.149A>G NP_001188472.1:p.Glu50Gly NC_000002.12:61853892:T:C p.(Glu50Gly) NC_000002.12:61853892:T:C p.(Glu50Gly) NC_000002.12:61853892:T:C Identity +NM_000053.4:c.113C>T NP_000044.2:p.Ala38Val NC_000013.11:51975106:G:A p.(Ala38Val) NC_000013.11:51975106:G:A p.(Ala38Val) NC_000013.11:51975106:G:A Identity +NM_000191.3:c.950A>G NP_000182.2:p.Lys317Arg NC_000001.11:23802490:T:C p.(Lys317Arg) NC_000001.11:23802490:T:C p.(Lys317Arg) NC_000001.11:23802490:T:C Identity +NM_000094.4:c.4214G>A NP_000085.1:p.Arg1405His NC_000003.12:48584044:C:T p.(Arg1405His) NC_000003.12:48584044:C:T p.(Arg1405His) NC_000003.12:48584044:C:T Identity +NM_033159.4:c.796G>A NP_149349.2:p.Val266Met NC_000003.12:50302160:C:T p.(Val266Met) NC_000003.12:50302160:C:T p.(Val266Met) NC_000003.12:50302160:C:T Identity +NM_017890.5:c.9040G>A NP_060360.3:p.Gly3014Ser NC_000008.11:99820092:G:A p.(Gly3014Ser) NC_000008.11:99820092:G:A p.(Gly3014Ser) NC_000008.11:99820092:G:A Identity +NM_001318360.2:c.2186A>G NP_001305289.1:p.His729Arg NC_000009.12:108897011:T:C p.(His729Arg) NC_000009.12:108897011:T:C p.(His729Arg) NC_000009.12:108897011:T:C Identity +NM_000231.3:c.607A>G NP_000222.2:p.Met203Val NC_000013.11:23320664:A:G p.(Met203Val) NC_000013.11:23320664:A:G p.(Met203Val) NC_000013.11:23320664:A:G Identity +NM_001193640.2:c.3185G>C NP_001180569.1:p.Cys1062Ser NC_000001.11:197435383:G:C p.(Cys1062Ser) NC_000001.11:197435383:G:C p.(Cys1062Ser) NC_000001.11:197435383:G:C Identity +NM_152443.3:c.709C>G NP_689656.2:p.Leu237Val NC_000014.9:67729240:C:G p.(Leu237Val) NC_000014.9:67729240:C:G p.(Leu237Val) NC_000014.9:67729240:C:G Identity +NM_001160708.2:c.304G>A NP_001154180.1:p.Glu102Lys NC_000012.12:106376431:G:A p.(Glu102Lys) NC_000012.12:106376431:G:A p.(Glu102Lys) NC_000012.12:106376431:G:A Identity +NM_001018037.2:c.2783C>T NP_001018047.1:p.Ala928Val NC_000009.12:77276179:C:T p.(Ala928Val) NC_000009.12:77276179:C:T p.(Ala928Val) NC_000009.12:77276179:C:T Identity +NM_014249.4:c.449C>T NP_055064.1:p.Pro150Leu NC_000015.10:71812053:C:T p.(Pro150Leu) NC_000015.10:71812053:C:T p.(Pro150Leu) NC_000015.10:71812053:C:T Identity +NM_001042465.3:c.1546A>G NP_001035930.1:p.Asn516Asp NC_000010.11:71818618:T:C p.(Asn516Asp) NC_000010.11:71818618:T:C p.(Asn516Asp) NC_000010.11:71818618:T:C Identity +NM_001364440.2:c.1490T>C NP_001351369.1:p.Val497Ala NC_000005.10:7892845:T:C p.(Val497Ala) NC_000005.10:7892845:T:C p.(Val497Ala) NC_000005.10:7892845:T:C Identity +NM_001289396.2:c.1534G>A NP_001276325.1:p.Glu512Lys NC_000009.12:2060827:G:A p.(Glu512Lys) NC_000009.12:2060827:G:A p.(Glu512Lys) NC_000009.12:2060827:G:A Identity +NM_001377456.1:c.142C>T NP_001364385.1:p.Arg48Trp NC_000016.10:56514655:G:A p.(Arg48Trp) NC_000016.10:56514655:G:A p.(Arg48Trp) NC_000016.10:56514655:G:A Identity +NM_000143.4:c.1069A>G NP_000134.2:p.Ile357Val NC_000001.11:241504080:T:C p.(Ile357Val) NC_000001.11:241504080:T:C p.(Ile357Val) NC_000001.11:241504080:T:C Identity +NM_000925.4:c.836T>C NP_000916.2:p.Ile279Thr NC_000003.12:58428570:A:G p.(Ile279Thr) NC_000003.12:58428570:A:G p.(Ile279Thr) NC_000003.12:58428570:A:G Identity +NM_001172631.3:c.1925T>A NP_001166102.1:p.Val642Asp NC_000014.9:102434741:T:A p.(Val642Asp) NC_000014.9:102434741:T:A p.(Val642Asp) NC_000014.9:102434741:T:A Identity +NM_000158.4:c.1216G>A NP_000149.4:p.Asp406Asn NC_000003.12:81591056:C:T p.(Asp406Asn) NC_000003.12:81591056:C:T p.(Asp406Asn) NC_000003.12:81591056:C:T Identity +NM_000246.4:c.2324G>A NP_000237.2:p.Gly775Glu NC_000016.10:10907815:G:A p.(Gly775Glu) NC_000016.10:10907815:G:A p.(Gly775Glu) NC_000016.10:10907815:G:A Identity +NM_001362770.2:c.982G>T NP_001349699.1:p.Val328Leu NC_000020.11:486453:C:A p.(Val328Leu) NC_000020.11:486453:C:A p.(Val328Leu) NC_000020.11:486453:C:A Identity +NM_001145472.3:c.3030C>A NP_001138944.1:p.Cys1010Ter NC_000018.10:46477930:G:T p.(Cys1010Ter) NC_000018.10:46477930:G:T p.(Cys1010Ter) NC_000018.10:46477930:G:T Identity +NM_000056.5:c.268A>G NP_000047.1:p.Thr90Ala NC_000006.12:80127617:A:G p.(Thr90Ala) NC_000006.12:80127617:A:G p.(Thr90Ala) NC_000006.12:80127617:A:G Identity +NM_000036.3:c.2113T>C NP_000027.3:p.Tyr705His NC_000001.11:114673244:A:G p.(Tyr705His) NC_000001.11:114673244:A:G p.(Tyr705His) NC_000001.11:114673244:A:G Identity +NM_001127671.2:c.2642C>T NP_001121143.1:p.Ala881Val NC_000005.10:38482616:G:A p.(Ala881Val) NC_000005.10:38482616:G:A p.(Ala881Val) NC_000005.10:38482616:G:A Identity +NM_001142800.2:c.4100C>T NP_001136272.1:p.Ser1367Leu NC_000006.12:64591766:G:A p.(Ser1367Leu) NC_000006.12:64591766:G:A p.(Ser1367Leu) NC_000006.12:64591766:G:A Identity +NM_001761.3:c.585T>G NP_001752.2:p.Ser195Arg NC_000016.10:2438113:T:G p.(Ser195Arg) NC_000016.10:2438113:T:G p.(Ser195Arg) NC_000016.10:2438113:T:G Identity +NM_003036.4:c.1439C>T NP_003027.1:p.Ser480Leu NC_000001.11:2304066:C:T p.(Ser480Leu) NC_000001.11:2304066:C:T p.(Ser480Leu) NC_000001.11:2304066:C:T Identity +NM_000296.4:c.9601_9603del NP_000287.4:p.Ile3201del NC_000016.10:2100274:GATGA:GA p.(Ile3201del) NC_000016.10:2100274:GATGA:GA p.(Ile3201del) NC_000016.10:2100274:GAT: Identity +NM_001199781.2:c.52A>T NP_001186710.1:p.Lys18Ter NC_000012.12:89525167:T:A p.(Lys18Ter) NC_000012.12:89525167:T:A p.(Lys18Ter) NC_000012.12:89525167:T:A Identity +NM_001006658.3:c.214G>A NP_001006659.1:p.Asp72Asn NC_000001.11:207466680:G:A p.(Asp72Asn) NC_000001.11:207466680:G:A p.(Asp72Asn) NC_000001.11:207466680:G:A Identity +NM_001173479.2:c.356A>G NP_001166950.1:p.Asn119Ser NC_000023.11:63697170:T:C p.(Asn119Ser) NC_000023.11:63697170:T:C p.(Asn119Ser) NC_000023.11:63697170:T:C Identity +NM_004268.5:c.1380A>G NP_004259.3:p.Ile460Met NC_000011.10:93801885:A:G p.(Ile460Met) NC_000011.10:93801885:A:G p.(Ile460Met) NC_000011.10:93801885:A:G Identity +NM_001171653.2:c.3050_3053dup NP_001165124.1:p.Ile1019fs NC_000002.12:144389970:AGGT:AGGTAGGT p.(Ile1019ProfsTer17) NC_000002.12:144389970:AGGT:AGGTAGGT p.(Ile1019ProfsTer17) ERR:SPDI Analogous +NM_000552.5:c.1753G>A NP_000543.3:p.Ala585Thr NC_000012.12:6057048:C:T p.(Ala585Thr) NC_000012.12:6057048:C:T p.(Ala585Thr) NC_000012.12:6057048:C:T Identity +NM_000543.5:c.667T>G NP_000534.3:p.Cys223Gly NC_000011.10:6391731:T:G p.(Cys223Gly) NC_000011.10:6391731:T:G p.(Cys223Gly) NC_000011.10:6391731:T:G Identity +NM_001363656.2:c.1210C>A NP_001350585.1:p.Leu404Met NC_000019.10:52225801:C:A p.(Leu404Met) NC_000019.10:52225801:C:A p.(Leu404Met) NC_000019.10:52225801:C:A Identity +NM_001142800.2:c.7062T>A NP_001136272.1:p.Asn2354Lys NC_000006.12:63864351:A:T p.(Asn2354Lys) NC_000006.12:63864351:A:T p.(Asn2354Lys) NC_000006.12:63864351:A:T Identity +NM_001375644.1:c.824T>C NP_001362573.1:p.Ile275Thr NC_000004.12:145653997:T:C p.(Ile275Thr) NC_000004.12:145653997:T:C p.(Ile275Thr) NC_000004.12:145653997:T:C Identity +NM_001142800.2:c.2248G>C NP_001136272.1:p.Asp750His NC_000006.12:64997592:C:G p.(Asp750His) NC_000006.12:64997592:C:G p.(Asp750His) NC_000006.12:64997592:C:G Identity +NM_001374839.1:c.784G>T NP_001361768.1:p.Val262Phe NC_000008.11:144414344:C:A p.(Val262Phe) NC_000008.11:144414344:C:A p.(Val262Phe) NC_000008.11:144414344:C:A Identity +NM_003718.5:c.3291C>A NP_003709.3:p.Asn1097Lys NC_000007.14:40092839:C:A p.(Asn1097Lys) NC_000007.14:40092839:C:A p.(Asn1097Lys) NC_000007.14:40092839:C:A Identity +NM_000119.3:c.413C>T NP_000110.2:p.Thr138Ile NC_000015.10:43215201:G:A p.(Thr138Ile) NC_000015.10:43215201:G:A p.(Thr138Ile) NC_000015.10:43215201:G:A Identity +NM_000251.3:c.2582A>G NP_000242.1:p.Gln861Arg NC_000002.12:47480818:A:G p.(Gln861Arg) NC_000002.12:47480818:A:G p.(Gln861Arg) NC_000002.12:47480818:A:G Identity +NM_000289.6:c.2219A>G NP_000280.1:p.Gln740Arg NC_000012.12:48145583:A:G p.(Gln740Arg) NC_000012.12:48145583:A:G p.(Gln740Arg) NC_000012.12:48145583:A:G Identity +NM_000298.6:c.814C>G NP_000289.1:p.Leu272Val NC_000001.11:155294632:G:C p.(Leu272Val) NC_000001.11:155294632:G:C p.(Leu272Val) NC_000001.11:155294632:G:C Identity +NM_016204.4:c.917G>A NP_057288.1:p.Gly306Asp NC_000010.11:47325410:G:A p.(Gly306Asp) NC_000010.11:47325410:G:A p.(Gly306Asp) NC_000010.11:47325410:G:A Identity +NM_000132.4:c.296T>C NP_000123.1:p.Val99Ala NC_000023.11:154997064:A:G p.(Val99Ala) NC_000023.11:154997064:A:G p.(Val99Ala) NC_000023.11:154997064:A:G Identity +NM_025114.4:c.3239A>G NP_079390.3:p.Tyr1080Cys NC_000012.12:88093839:T:C p.(Tyr1080Cys) NC_000012.12:88093839:T:C p.(Tyr1080Cys) NC_000012.12:88093839:T:C Identity +NM_206933.4:c.12149G>A NP_996816.3:p.Gly4050Glu NC_000001.11:215680293:C:T p.(Gly4050Glu) NC_000001.11:215680293:C:T p.(Gly4050Glu) NC_000001.11:215680293:C:T Identity +NM_001142864.4:c.6160G>C NP_001136336.2:p.Glu2054Gln NC_000016.10:88720072:C:G p.(Glu2054Gln) NC_000016.10:88720072:C:G p.(Glu2054Gln) NC_000016.10:88720072:C:G Identity +NM_001406836.1:c.698T>C NP_001393765.1:p.Leu233Pro NC_000011.10:2572026:T:C p.(Leu233Pro) NC_000011.10:2572026:T:C p.(Leu233Pro) NC_000011.10:2572026:T:C Identity +NM_001287426.2:c.641A>T NP_001274355.1:p.Tyr214Phe NC_000007.14:48107076:A:T p.(Tyr214Phe) NC_000007.14:48107076:A:T p.(Tyr214Phe) NC_000007.14:48107076:A:T Identity +NM_000255.4:c.1276G>A NP_000246.2:p.Gly426Arg NC_000006.12:49451521:C:T p.(Gly426Arg) NC_000006.12:49451521:C:T p.(Gly426Arg) NC_000006.12:49451521:C:T Identity +NM_000289.6:c.2126G>A NP_000280.1:p.Cys709Tyr NC_000012.12:48145242:G:A p.(Cys709Tyr) NC_000012.12:48145242:G:A p.(Cys709Tyr) NC_000012.12:48145242:G:A Identity +NM_000492.4:c.1983C>G NP_000483.3:p.Ile661Met NC_000007.14:117592149:C:G p.(Ile661Met) NC_000007.14:117592149:C:G p.(Ile661Met) NC_000007.14:117592149:C:G Identity +NM_032119.4:c.18674G>T NP_115495.3:p.Ser6225Ile NC_000005.10:91153269:G:T p.(Ser6225Ile) NC_000005.10:91153269:G:T p.(Ser6225Ile) NC_000005.10:91153269:G:T Identity +NM_001127214.4:c.497C>T NP_001120686.1:p.Pro166Leu NC_000016.10:89101177:C:T p.(Pro166Leu) NC_000016.10:89101177:C:T p.(Pro166Leu) NC_000016.10:89101177:C:T Identity +NM_000152.5:c.679G>T NP_000143.2:p.Asp227Tyr NC_000017.11:80105880:G:T p.(Asp227Tyr) NC_000017.11:80105880:G:T p.(Asp227Tyr) NC_000017.11:80105880:G:T Identity +NM_001160210.2:c.1172T>A NP_001153682.1:p.Leu391Gln NC_000007.14:96184284:A:T p.(Leu391Gln) NC_000007.14:96184284:A:T p.(Leu391Gln) NC_000007.14:96184284:A:T Identity +NM_001178075.2:c.1507C>A NP_001171546.1:p.Arg503Ser NC_000007.14:97852374:G:T p.(Arg503Ser) NC_000007.14:97852374:G:T p.(Arg503Ser) NC_000007.14:97852374:G:T Identity +NM_000089.4:c.1541G>C NP_000080.2:p.Gly514Ala NC_000007.14:94413119:G:C p.(Gly514Ala) NC_000007.14:94413119:G:C p.(Gly514Ala) NC_000007.14:94413119:G:C Identity +NM_000274.4:c.1255G>C NP_000265.1:p.Val419Leu NC_000010.11:124398006:C:G p.(Val419Leu) NC_000010.11:124398006:C:G p.(Val419Leu) NC_000010.11:124398006:C:G Identity +NM_000298.6:c.86T>C NP_000289.1:p.Ile29Thr NC_000001.11:155301309:A:G p.(Ile29Thr) NC_000001.11:155301309:A:G p.(Ile29Thr) NC_000001.11:155301309:A:G Identity +NM_001369.3:c.5563A>G NP_001360.1:p.Ile1855Val NC_000005.10:13841051:T:C p.(Ile1855Val) NC_000005.10:13841051:T:C p.(Ile1855Val) NC_000005.10:13841051:T:C Identity +NM_001134793.2:c.103G>C NP_001128265.1:p.Gly35Arg NC_000011.10:125899470:G:C p.(Gly35Arg) NC_000011.10:125899470:G:C p.(Gly35Arg) NC_000011.10:125899470:G:C Identity +NM_001003722.2:c.946C>T NP_001003722.1:p.Arg316Trp NC_000009.12:128525239:C:T p.(Arg316Trp) NC_000009.12:128525239:C:T p.(Arg316Trp) NC_000009.12:128525239:C:T Identity +NM_001378454.1:c.11393G>A NP_001365383.1:p.Arg3798Lys NC_000002.12:73573269:G:A p.(Arg3798Lys) NC_000002.12:73573269:G:A p.(Arg3798Lys) NC_000002.12:73573269:G:A Identity +NM_001318360.2:c.3307G>A NP_001305289.1:p.Ala1103Thr NC_000009.12:108878673:C:T p.(Ala1103Thr) NC_000009.12:108878673:C:T p.(Ala1103Thr) NC_000009.12:108878673:C:T Identity +NM_006946.4:c.3883G>A NP_008877.2:p.Asp1295Asn NC_000011.10:66698769:C:T p.(Asp1295Asn) NC_000011.10:66698769:C:T p.(Asp1295Asn) NC_000011.10:66698769:C:T Identity +NM_006950.3:c.334G>T NP_008881.2:p.Ala112Ser NC_000023.11:47619394:C:A p.(Ala112Ser) NC_000023.11:47619394:C:A p.(Ala112Ser) NC_000023.11:47619394:C:A Identity +NM_001146261.4:c.1784A>G NP_001139733.1:p.Glu595Gly NC_000001.11:210160965:A:G p.(Glu595Gly) NC_000001.11:210160965:A:G p.(Glu595Gly) NC_000001.11:210160965:A:G Identity +NM_000435.3:c.5467G>A NP_000426.2:p.Asp1823Asn NC_000019.10:15165986:C:T p.(Asp1823Asn) NC_000019.10:15165986:C:T p.(Asp1823Asn) NC_000019.10:15165986:C:T Identity +NM_001256850.1:c.47095C>T NP_001243779.1:p.Leu15699Phe NC_000002.12:178609291:G:A p.(Leu15699Phe) NC_000002.12:178609291:G:A p.(Leu15699Phe) NC_000002.12:178609291:G:A Identity +NM_201381.3:c.4924C>T NP_958783.1:p.Arg1642Trp NC_000008.11:143924908:G:A p.(Arg1642Trp) NC_000008.11:143924908:G:A p.(Arg1642Trp) NC_000008.11:143924908:G:A Identity +NM_000403.4:c.895C>T NP_000394.2:p.Arg299Trp NC_000001.11:23796243:G:A p.(Arg299Trp) NC_000001.11:23796243:G:A p.(Arg299Trp) NC_000001.11:23796243:G:A Identity +NM_001257144.2:c.1403dup NP_001244073.1:p.Ser469fs NC_000012.12:31094622:T:TT p.(Ser469ValfsTer32) NC_000012.12:31094622:T:TT p.(Ser469ValfsTer32) ERR:SPDI Analogous +NM_001195794.1:c.406G>A NP_001182723.1:p.Gly136Arg NC_000003.12:150941608:C:T p.(Gly136Arg) NC_000003.12:150941608:C:T p.(Gly136Arg) NC_000003.12:150941608:C:T Identity +NM_001164730.2:c.520C>T NP_001158202.1:p.Pro174Ser NC_000002.12:86232720:G:A p.(Pro174Ser) NC_000002.12:86232720:G:A p.(Pro174Ser) NC_000002.12:86232720:G:A Identity +NM_181882.3:c.2450G>A NP_870998.2:p.Arg817His NC_000019.10:40395901:C:T p.(Arg817His) NC_000019.10:40395901:C:T p.(Arg817His) NC_000019.10:40395901:C:T Identity +NM_001042355.2:c.2146A>G NP_001035814.1:p.Met716Val NC_000016.10:50791603:A:G p.(Met716Val) NC_000016.10:50791603:A:G p.(Met716Val) NC_000016.10:50791603:A:G Identity +NM_015001.3:c.7024C>T NP_055816.2:p.Arg2342Ter NC_000001.11:15933263:C:T p.(Arg2342Ter) NC_000001.11:15933263:C:T p.(Arg2342Ter) NC_000001.11:15933263:C:T Identity +NM_000287.4:c.1513G>A NP_000278.3:p.Gly505Arg NC_000006.12:42968464:C:T p.(Gly505Arg) NC_000006.12:42968464:C:T p.(Gly505Arg) NC_000006.12:42968464:C:T Identity +NM_001382630.1:c.244G>C NP_001369559.1:p.Ala82Pro NC_000006.12:73644453:C:G p.(Ala82Pro) NC_000006.12:73644453:C:G p.(Ala82Pro) NC_000006.12:73644453:C:G Identity +NM_001324112.2:c.835G>T NP_001311041.1:p.Asp279Tyr NC_000008.11:64615705:C:A p.(Asp279Tyr) NC_000008.11:64615705:C:A p.(Asp279Tyr) NC_000008.11:64615705:C:A Identity +NM_001303245.3:c.345T>A NP_001290174.1:p.Asp115Glu NC_000003.12:141516420:T:A p.(Asp115Glu) NC_000003.12:141516420:T:A p.(Asp115Glu) NC_000003.12:141516420:T:A Identity +NM_025074.7:c.7084C>T NP_079350.5:p.Arg2362Ter NC_000004.12:78466261:C:T p.(Arg2362Ter) NC_000004.12:78466261:C:T p.(Arg2362Ter) NC_000004.12:78466261:C:T Identity +NM_001271933.2:c.347del NP_001258862.1:p.Lys116fs NC_000011.10:117351931:AAAAAAAAAAA:AAAAAAAAAA p.(Lys116ArgfsTer22) NC_000011.10:117351931:AAAAAAAAAAA:AAAAAAAAAA p.(Lys116ArgfsTer22) NC_000011.10:117351941:A: Analogous +NM_000517.6:c.358C>G NP_000508.1:p.Pro120Ala NC_000016.10:173528:C:G p.(Pro120Ala) NC_000016.10:173528:C:G p.(Pro120Ala) NC_000016.10:173528:C:G Identity +NM_001130916.3:c.596T>C NP_001124388.1:p.Leu199Pro NC_000009.12:99142556:T:C p.(Leu199Pro) NC_000009.12:99142556:T:C p.(Leu199Pro) NC_000009.12:99142556:T:C Identity +NM_000092.5:c.2402G>T NP_000083.3:p.Gly801Val NC_000002.12:227057581:C:A p.(Gly801Val) NC_000002.12:227057581:C:A p.(Gly801Val) NC_000002.12:227057581:C:A Identity +NM_001170535.3:c.707G>T NP_001164006.1:p.Gly236Val NC_000001.11:1520573:G:T p.(Gly236Val) NC_000001.11:1520573:G:T p.(Gly236Val) NC_000001.11:1520573:G:T Identity +NM_199242.3:c.1340T>G NP_954712.1:p.Leu447Arg NC_000017.11:75836387:A:C p.(Leu447Arg) NC_000017.11:75836387:A:C p.(Leu447Arg) NC_000017.11:75836387:A:C Identity +NM_001139.3:c.769C>G NP_001130.1:p.His257Asp NC_000017.11:8079926:G:C p.(His257Asp) NC_000017.11:8079926:G:C p.(His257Asp) NC_000017.11:8079926:G:C Identity +NM_015557.3:c.940G>T NP_056372.1:p.Glu314Ter NC_000001.11:6151085:C:A p.(Glu314Ter) NC_000001.11:6151085:C:A p.(Glu314Ter) NC_000001.11:6151085:C:A Identity +NM_001256182.2:c.3888dup NP_001243111.1:p.Asn1297fs NC_000016.10:89282653:GG:GGG p.(Asn1297GlnfsTer3) NC_000016.10:89282653:GG:GGG p.(Asn1297GlnfsTer3) ERR:SPDI Analogous +NM_000059.4:c.4660A>G NP_000050.3:p.Ser1554Gly NC_000013.11:32339014:A:G p.(Ser1554Gly) NC_000013.11:32339014:A:G p.(Ser1554Gly) NC_000013.11:32339014:A:G Identity +NM_000552.5:c.6890C>T NP_000543.3:p.Pro2297Leu NC_000012.12:5985573:G:A p.(Pro2297Leu) NC_000012.12:5985573:G:A p.(Pro2297Leu) NC_000012.12:5985573:G:A Identity +NM_006516.4:c.787T>C NP_006507.2:p.Phe263Leu NC_000001.11:42929672:A:G p.(Phe263Leu) NC_000001.11:42929672:A:G p.(Phe263Leu) NC_000001.11:42929672:A:G Identity +NM_001363734.1:c.4041dup NP_001350663.1:p.Pro1348fs NC_000020.11:32436935:G:GG p.(Pro1348AlafsTer15) NC_000020.11:32436935:G:GG p.(Pro1348AlafsTer15) ERR:SPDI Analogous +NM_000268.4:c.470_479dup NP_000259.1:p.Gly161fs NC_000022.11:29654677:GTTCACAAGCG:GTTCACAAGCGTTCACAAGCG p.(Gly161SerfsTer45) NC_000022.11:29654677:GTTCACAAGCG:GTTCACAAGCGTTCACAAGCG p.(Gly161SerfsTer45) ERR:SPDI Analogous +NM_000248.4:c.607A>G NP_000239.1:p.Arg203Gly NC_000003.12:69951858:A:G p.(Arg203Gly) NC_000003.12:69951858:A:G p.(Arg203Gly) NC_000003.12:69951858:A:G Identity +NM_022370.4:c.284T>C NP_071765.2:p.Ile95Thr NC_000011.10:124868924:T:C p.(Ile95Thr) NC_000011.10:124868924:T:C p.(Ile95Thr) NC_000011.10:124868924:T:C Identity +NM_001165963.4:c.725A>G NP_001159435.1:p.Gln242Arg NC_000002.12:166051957:T:C p.(Gln242Arg) NC_000002.12:166051957:T:C p.(Gln242Arg) NC_000002.12:166051957:T:C Identity +LRG_782t1:c.2229G>A LRG_782p1:p.Trp743Ter NC_000023.11:124066399:G:A ERR:Data provider error: ValueError: Transcript LRG_782t1 not found ERR:Data provider error: ValueError: Transcript LRG_782t1 not found ERR:AlignmentMapper(tx_ac=LRG_782t1, alt_ac=LRG_782t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_782t1, alt_ac=LRG_782t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_782t1 not found +NM_017649.5:c.970G>A NP_060119.3:p.Val324Met NC_000010.11:102919449:G:A p.(Val324Met) NC_000010.11:102919449:G:A p.(Val324Met) NC_000010.11:102919449:G:A Identity +LRG_610t3:c.839C>T LRG_610p3:p.Ser280Phe NC_000002.12:208242004:G:A ERR:Data provider error: ValueError: Transcript LRG_610t3 not found ERR:Data provider error: ValueError: Transcript LRG_610t3 not found ERR:AlignmentMapper(tx_ac=LRG_610t3, alt_ac=LRG_610t3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_610t3, alt_ac=LRG_610t3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_610t3 not found +NM_019077.3:c.262C>T NP_061950.2:p.Arg88Trp NC_000002.12:233682198:C:T p.(Arg88Trp) NC_000002.12:233682198:C:T p.(Arg88Trp) NC_000002.12:233682198:C:T Identity +NM_000296.4:c.9562A>G NP_000287.4:p.Asn3188Asp NC_000016.10:2100401:T:C p.(Asn3188Asp) NC_000016.10:2100401:T:C p.(Asn3188Asp) NC_000016.10:2100401:T:C Identity +NM_025059.4:c.1033G>A NP_079335.2:p.Glu345Lys NC_000006.12:151573431:G:A p.(Glu345Lys) NC_000006.12:151573431:G:A p.(Glu345Lys) NC_000006.12:151573431:G:A Identity +NM_001269039.3:c.556T>G NP_001255968.1:p.Ser186Ala NC_000010.11:110964913:T:G p.(Ser186Ala) NC_000010.11:110964913:T:G p.(Ser186Ala) NC_000010.11:110964913:T:G Identity +NM_000212.3:c.709_710del NP_000203.2:p.Ser237fs NC_000017.11:47286351:AGAG:AG p.(Ser237CysfsTer13) NC_000017.11:47286351:AGAG:AG p.(Ser237CysfsTer13) NC_000017.11:47286353:AG: Analogous +NM_001354989.2:c.475C>G NP_001341918.1:p.Leu159Val NC_000005.10:180630262:G:C p.(Leu159Val) NC_000005.10:180630262:G:C p.(Leu159Val) NC_000005.10:180630262:G:C Identity +NM_001284401.2:c.896C>T NP_001271330.1:p.Pro299Leu NC_000003.12:11807873:G:A p.(Pro299Leu) NC_000003.12:11807873:G:A p.(Pro299Leu) NC_000003.12:11807873:G:A Identity +NM_001286262.2:c.253G>A NP_001273191.1:p.Glu85Lys NC_000012.12:106314452:G:A p.(Glu85Lys) NC_000012.12:106314452:G:A p.(Glu85Lys) NC_000012.12:106314452:G:A Identity +NM_000059.4:c.4037C>G NP_000050.3:p.Thr1346Ser NC_000013.11:32338391:C:G p.(Thr1346Ser) NC_000013.11:32338391:C:G p.(Thr1346Ser) NC_000013.11:32338391:C:G Identity +NM_001099432.3:c.1133del NP_001092902.1:p.Val378fs NC_000017.11:60947263:T: p.(Val378AlafsTer5) NC_000017.11:60947263:T: p.(Val378AlafsTer5) NC_000017.11:60947263:T: Analogous +NM_017671.5:c.27del NP_060141.3:p.Phe9fs NC_000020.11:6119527:AAA:AA p.(Phe9LeufsTer23) NC_000020.11:6119527:AAA:AA p.(Phe9LeufsTer23) NC_000020.11:6119527:A: Analogous +NM_000138.5:c.4612A>G NP_000129.3:p.Ile1538Val NC_000015.10:48468072:T:C p.(Ile1538Val) NC_000015.10:48468072:T:C p.(Ile1538Val) NC_000015.10:48468072:T:C Identity +NM_006946.4:c.5414G>A NP_008877.2:p.Arg1805His NC_000011.10:66691434:C:T p.(Arg1805His) NC_000011.10:66691434:C:T p.(Arg1805His) NC_000011.10:66691434:C:T Identity +NM_001135745.2:c.461A>G NP_001129217.1:p.Gln154Arg NC_000002.12:201761532:T:C p.(Gln154Arg) NC_000002.12:201761532:T:C p.(Gln154Arg) NC_000002.12:201761532:T:C Identity +NM_000051.4:c.643A>G NP_000042.3:p.Lys215Glu NC_000011.10:108244098:A:G p.(Lys215Glu) NC_000011.10:108244098:A:G p.(Lys215Glu) NC_000011.10:108244098:A:G Identity +NM_033071.5:c.10280C>A NP_149062.2:p.Ala3427Glu NC_000006.12:152362209:G:T p.(Ala3427Glu) NC_000006.12:152362209:G:T p.(Ala3427Glu) NC_000006.12:152362209:G:T Identity +NM_001174116.3:c.6137C>T NP_001167587.1:p.Ala2046Val NC_000015.10:51480968:G:A p.(Ala2046Val) NC_000015.10:51480968:G:A p.(Ala2046Val) NC_000015.10:51480968:G:A Identity +NM_019108.4:c.947A>G NP_061981.2:p.His316Arg NC_000019.10:43737644:T:C p.(His316Arg) NC_000019.10:43737644:T:C p.(His316Arg) NC_000019.10:43737644:T:C Identity +NM_001304815.2:c.4277C>G NP_001291744.1:p.Pro1426Arg NC_000019.10:42290317:C:G p.(Pro1426Arg) NC_000019.10:42290317:C:G p.(Pro1426Arg) NC_000019.10:42290317:C:G Identity +NM_001347701.2:c.1613G>A NP_001334630.1:p.Arg538Gln NC_000006.12:152143734:C:T p.(Arg538Gln) NC_000006.12:152143734:C:T p.(Arg538Gln) NC_000006.12:152143734:C:T Identity +NM_000298.6:c.341T>C NP_000289.1:p.Ile114Thr NC_000001.11:155295698:A:G p.(Ile114Thr) NC_000001.11:155295698:A:G p.(Ile114Thr) NC_000001.11:155295698:A:G Identity +NM_003126.4:c.3257del NP_003117.2:p.Leu1086fs NC_000001.11:158652584:AAAAA:AAAA p.(Leu1086TyrfsTer25) NC_000001.11:158652584:AAAAA:AAAA p.(Leu1086TyrfsTer25) NC_000001.11:158652584:A: Analogous +NM_001039753.4:c.5773G>A NP_001034842.2:p.Gly1925Ser NC_000002.12:54968688:G:A p.(Gly1925Ser) NC_000002.12:54968688:G:A p.(Gly1925Ser) NC_000002.12:54968688:G:A Identity +NM_000132.4:c.992T>C NP_000123.1:p.Ile331Thr NC_000023.11:154969347:A:G p.(Ile331Thr) NC_000023.11:154969347:A:G p.(Ile331Thr) NC_000023.11:154969347:A:G Identity +NM_000018.4:c.770A>T NP_000009.1:p.Asp257Val NC_000017.11:7222193:A:T p.(Asp257Val) NC_000017.11:7222193:A:T p.(Asp257Val) NC_000017.11:7222193:A:T Identity +NM_000296.4:c.12778G>A NP_000287.4:p.Gly4260Ser NC_000016.10:2089857:C:T p.(Gly4260Ser) NC_000016.10:2089857:C:T p.(Gly4260Ser) NC_000016.10:2089857:C:T Identity +NM_018230.3:c.2992dup NP_060700.2:p.Gln998fs NC_000001.11:229452631:G:GG p.(Gln998ProfsTer13) NC_000001.11:229452631:G:GG p.(Gln998ProfsTer13) ERR:SPDI Analogous +NM_001206846.2:c.9C>A NP_001193775.1:p.Asn3Lys NC_000001.11:197146428:G:T p.(Asn3Lys) NC_000001.11:197146428:G:T p.(Asn3Lys) NC_000001.11:197146428:G:T Identity +NM_000296.4:c.8200C>A NP_000287.4:p.Pro2734Thr NC_000016.10:2103856:G:T p.(Pro2734Thr) NC_000016.10:2103856:G:T p.(Pro2734Thr) NC_000016.10:2103856:G:T Identity +NM_001278055.2:c.6289G>A NP_001264984.1:p.Asp2097Asn NC_000013.11:23337145:C:T p.(Asp2097Asn) NC_000013.11:23337145:C:T p.(Asp2097Asn) NC_000013.11:23337145:C:T Identity +NM_001165963.4:c.821G>A NP_001159435.1:p.Arg274Lys NC_000002.12:166051861:C:T p.(Arg274Lys) NC_000002.12:166051861:C:T p.(Arg274Lys) NC_000002.12:166051861:C:T Identity +NM_000068.4:c.2137G>T NP_000059.3:p.Ala713Ser NC_000019.10:13303583:C:A p.(Ala713Ser) NC_000019.10:13303583:C:A p.(Ala713Ser) NC_000019.10:13303583:C:A Identity +NM_001114636.2:c.488C>G NP_001108108.1:p.Pro163Arg NC_000002.12:58198645:G:C p.(Pro163Arg) NC_000002.12:58198645:G:C p.(Pro163Arg) NC_000002.12:58198645:G:C Identity +NM_000249.4:c.70G>A NP_000240.1:p.Val24Ile NC_000003.12:36993616:G:A p.(Val24Ile) NC_000003.12:36993616:G:A p.(Val24Ile) NC_000003.12:36993616:G:A Identity +NM_014053.4:c.18T>A NP_054772.1:p.Asp6Glu NC_000001.11:212858469:T:A p.(Asp6Glu) NC_000001.11:212858469:T:A p.(Asp6Glu) NC_000001.11:212858469:T:A Identity +NM_001961.4:c.712G>A NP_001952.1:p.Ala238Thr NC_000019.10:3982324:C:T p.(Ala238Thr) NC_000019.10:3982324:C:T p.(Ala238Thr) NC_000019.10:3982324:C:T Identity +NM_017721.5:c.2146C>T NP_060191.3:p.Leu716Phe NC_000019.10:13926997:C:T p.(Leu716Phe) NC_000019.10:13926997:C:T p.(Leu716Phe) NC_000019.10:13926997:C:T Identity +NM_000937.5:c.1943C>A NP_000928.1:p.Ser648Ter NC_000017.11:7501000:C:A p.(Ser648Ter) NC_000017.11:7501000:C:A p.(Ser648Ter) NC_000017.11:7501000:C:A Identity +NM_000642.3:c.4126C>T NP_000633.2:p.Gln1376Ter NC_000001.11:99913702:C:T p.(Gln1376Ter) NC_000001.11:99913702:C:T p.(Gln1376Ter) NC_000001.11:99913702:C:T Identity +LRG_1264t1:c.1871C>T LRG_1264p1:p.Thr624Ile NC_000017.11:8073202:G:A ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1264t1, alt_ac=LRG_1264t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1264t1 not found +NM_000068.4:c.1927G>A NP_000059.3:p.Asp643Asn NC_000019.10:13307843:C:T p.(Asp643Asn) NC_000019.10:13307843:C:T p.(Asp643Asn) NC_000019.10:13307843:C:T Identity +NM_001004426.3:c.2194G>A NP_001004426.1:p.Glu732Lys NC_000022.11:38112225:C:T p.(Glu732Lys) NC_000022.11:38112225:C:T p.(Glu732Lys) NC_000022.11:38112225:C:T Identity +NM_001278064.2:c.3554G>A NP_001264993.1:p.Arg1185Gln NC_000006.12:146434764:G:A p.(Arg1185Gln) NC_000006.12:146434764:G:A p.(Arg1185Gln) NC_000006.12:146434764:G:A Identity +NM_006946.4:c.1501C>T NP_008877.2:p.Arg501Cys NC_000011.10:66707667:G:A p.(Arg501Cys) NC_000011.10:66707667:G:A p.(Arg501Cys) NC_000011.10:66707667:G:A Identity +NM_005862.3:c.391C>T NP_005853.2:p.Arg131Ter NC_000003.12:136568767:G:A p.(Arg131Ter) NC_000003.12:136568767:G:A p.(Arg131Ter) NC_000003.12:136568767:G:A Identity +NM_000400.4:c.553C>T NP_000391.1:p.Arg185Trp NC_000019.10:45364878:G:A p.(Arg185Trp) NC_000019.10:45364878:G:A p.(Arg185Trp) NC_000019.10:45364878:G:A Identity +NM_000748.3:c.1190A>G NP_000739.1:p.Gln397Arg NC_000001.11:154572012:A:G p.(Gln397Arg) NC_000001.11:154572012:A:G p.(Gln397Arg) NC_000001.11:154572012:A:G Identity +NM_000719.7:c.1540A>G NP_000710.5:p.Arg514Gly NC_000012.12:2566452:A:G p.(Arg514Gly) NC_000012.12:2566452:A:G p.(Arg514Gly) NC_000012.12:2566452:A:G Identity +NM_017649.5:c.143T>C NP_060119.3:p.Leu48Pro NC_000010.11:102918622:T:C p.(Leu48Pro) NC_000010.11:102918622:T:C p.(Leu48Pro) NC_000010.11:102918622:T:C Identity +NM_001011.4:c.35A>G NP_001002.1:p.Asn12Ser NC_000002.12:3575643:A:G p.(Asn12Ser) NC_000002.12:3575643:A:G p.(Asn12Ser) NC_000002.12:3575643:A:G Identity +NM_017617.5:c.4763G>A NP_060087.3:p.Ser1588Asn NC_000009.12:136504927:C:T p.(Ser1588Asn) NC_000009.12:136504927:C:T p.(Ser1588Asn) NC_000009.12:136504927:C:T Identity +NM_001270507.2:c.881C>T NP_001257436.1:p.Pro294Leu NC_000006.12:137877150:C:T p.(Pro294Leu) NC_000006.12:137877150:C:T p.(Pro294Leu) NC_000006.12:137877150:C:T Identity +NM_001271440.2:c.736C>T NP_001258369.1:p.Arg246Cys NC_000021.9:44330229:G:A p.(Arg246Cys) NC_000021.9:44330229:G:A p.(Arg246Cys) NC_000021.9:44330229:G:A Identity +NM_001407677.1:c.4529A>G NP_001394606.1:p.Tyr1510Cys NC_000017.11:43074350:T:C p.(Tyr1510Cys) NC_000017.11:43074350:T:C p.(Tyr1510Cys) NC_000017.11:43074350:T:C Identity +NM_001039111.3:c.224_240dup NP_001034200.1:p.Gly81fs NC_000003.12:32818299:CGGCTGCCGGCGGCGGGCGGC:CGGCTGCCGGCGGCGGGCGGCTGCCGGCGGCGGGCGGC p.(Gly81CysfsTer24) NC_000003.12:32818299:CGGCTGCCGGCGGCGGGCGGC:CGGCTGCCGGCGGCGGGCGGCTGCCGGCGGCGGGCGGC p.(Gly81CysfsTer24) ERR:SPDI Analogous +NM_000321.3:c.840dup NP_000312.2:p.His281fs NC_000013.11:48362934:AA:AAA p.(His281ThrfsTer2) NC_000013.11:48362934:AA:AAA p.(His281ThrfsTer2) ERR:SPDI Analogous +NM_001127366.3:c.668C>T NP_001120838.1:p.Thr223Ile NC_000002.12:222232198:G:A p.(Thr223Ile) NC_000002.12:222232198:G:A p.(Thr223Ile) NC_000002.12:222232198:G:A Identity +NM_000053.4:c.2953del NP_000044.2:p.Cys985fs NC_000013.11:51946390:A: p.(Cys985AlafsTer37) NC_000013.11:51946390:A: p.(Cys985AlafsTer37) NC_000013.11:51946390:A: Analogous +NM_003384.3:c.788A>G NP_003375.1:p.Asp263Gly NC_000014.9:96856207:A:G p.(Asp263Gly) NC_000014.9:96856207:A:G p.(Asp263Gly) NC_000014.9:96856207:A:G Identity +NM_001943.5:c.2979G>T NP_001934.2:p.Gln993His NC_000018.10:31546364:G:T p.(Gln993His) NC_000018.10:31546364:G:T p.(Gln993His) NC_000018.10:31546364:G:T Identity +NM_001376.5:c.2003T>A NP_001367.2:p.Val668Asp NC_000014.9:101986227:T:A p.(Val668Asp) NC_000014.9:101986227:T:A p.(Val668Asp) NC_000014.9:101986227:T:A Identity +NM_001376.5:c.10888G>A NP_001367.2:p.Gly3630Ser NC_000014.9:102036621:G:A p.(Gly3630Ser) NC_000014.9:102036621:G:A p.(Gly3630Ser) NC_000014.9:102036621:G:A Identity +NM_012213.3:c.1059dup NP_036345.2:p.Leu354fs NC_000016.10:83915064:AA:AAA p.(Leu354ThrfsTer8) NC_000016.10:83915064:AA:AAA p.(Leu354ThrfsTer8) ERR:SPDI Analogous +NM_024747.6:c.1999C>T NP_079023.2:p.Arg667Ter NC_000010.11:102067472:C:T p.(Arg667Ter) NC_000010.11:102067472:C:T p.(Arg667Ter) NC_000010.11:102067472:C:T Identity +NM_001291415.2:c.65A>C NP_001278344.1:p.Glu22Ala NC_000023.11:44873615:A:C p.(Glu22Ala) NC_000023.11:44873615:A:C p.(Glu22Ala) NC_000023.11:44873615:A:C Identity +NM_000202.8:c.162T>A NP_000193.1:p.Tyr54Ter NC_000023.11:149504234:A:T p.(Tyr54Ter) NC_000023.11:149504234:A:T p.(Tyr54Ter) NC_000023.11:149504234:A:T Identity +NM_001146189.1:c.4709A>C NP_001139661.1:p.Lys1570Thr NC_000018.10:74641028:A:C p.(Lys1570Thr) NC_000018.10:74641028:A:C p.(Lys1570Thr) NC_000018.10:74641028:A:C Identity +NM_000296.4:c.11881C>T NP_000287.4:p.Gln3961Ter NC_000016.10:2091002:G:A p.(Gln3961Ter) NC_000016.10:2091002:G:A p.(Gln3961Ter) NC_000016.10:2091002:G:A Identity +NM_000296.4:c.7973_7974del NP_000287.4:p.Val2658fs NC_000016.10:2105363:CACA:CA p.(Val2658GlyfsTer2) NC_000016.10:2105363:CACA:CA p.(Val2658GlyfsTer2) NC_000016.10:2105363:CA: Analogous +NM_001422628.1:c.19G>A NP_001409557.1:p.Glu7Lys NC_000001.11:236409238:G:A p.(Glu7Lys) NC_000001.11:236409238:G:A p.(Glu7Lys) NC_000001.11:236409238:G:A Identity +NM_001130066.2:c.514C>T NP_001123538.1:p.Arg172Trp NC_000006.12:33435155:C:T p.(Arg172Trp) NC_000006.12:33435155:C:T p.(Arg172Trp) NC_000006.12:33435155:C:T Identity +NM_001029882.3:c.4438del NP_001025053.1:p.Glu1480fs NC_000001.11:27547677:C: p.(Glu1480LysfsTer67) NC_000001.11:27547677:C: p.(Glu1480LysfsTer67) NC_000001.11:27547677:C: Analogous +NM_000076.2:c.464C>T NP_000067.1:p.Ala155Val NC_000011.10:2885025:G:A p.(Ala155Val) NC_000011.10:2885025:G:A p.(Ala155Val) NC_000011.10:2885025:G:A Identity +NM_000400.4:c.1847G>A NP_000391.1:p.Arg616Gln NC_000019.10:45352800:C:T p.(Arg616Gln) NC_000019.10:45352800:C:T p.(Arg616Gln) NC_000019.10:45352800:C:T Identity +NM_001077188.2:c.67G>T NP_001070656.1:p.Val23Phe NC_000023.11:132958535:C:A p.(Val23Phe) NC_000023.11:132958535:C:A p.(Val23Phe) NC_000023.11:132958535:C:A Identity +NM_000527.5:c.1129dup NP_000518.1:p.Cys377fs NC_000019.10:11111581:T:TT p.(Cys377LeufsTer4) NC_000019.10:11111581:T:TT p.(Cys377LeufsTer4) ERR:SPDI Analogous +NM_000094.4:c.5765G>T NP_000085.1:p.Gly1922Val NC_000003.12:48576406:C:A p.(Gly1922Val) NC_000003.12:48576406:C:A p.(Gly1922Val) NC_000003.12:48576406:C:A Identity +NM_001318193.2:c.490G>A NP_001305122.2:p.Ala164Thr NC_000016.10:2043590:C:T p.(Ala164Thr) NC_000016.10:2043590:C:T p.(Ala164Thr) NC_000016.10:2043590:C:T Identity +NM_000038.6:c.2870A>C NP_000029.2:p.Lys957Thr NC_000005.10:112838463:A:C p.(Lys957Thr) NC_000005.10:112838463:A:C p.(Lys957Thr) NC_000005.10:112838463:A:C Identity +NM_000169.3:c.412G>A NP_000160.1:p.Gly138Arg NC_000023.11:101401766:C:T p.(Gly138Arg) NC_000023.11:101401766:C:T p.(Gly138Arg) NC_000023.11:101401766:C:T Identity +NM_002049.4:c.49_50del NP_002040.1:p.Gln17fs NC_000023.11:48791157:CA: p.(Gln17ValfsTer22) NC_000023.11:48791157:CA: p.(Gln17ValfsTer22) NC_000023.11:48791157:CA: Analogous +NM_001286349.2:c.1418C>T NP_001273278.1:p.Ser473Leu NC_000001.11:158093760:C:T p.(Ser473Leu) NC_000001.11:158093760:C:T p.(Ser473Leu) NC_000001.11:158093760:C:T Identity +NM_000051.4:c.4143del NP_000042.3:p.Pro1382fs NC_000011.10:108289006:TTTT:TTT p.(Pro1382HisfsTer4) NC_000011.10:108289006:TTTT:TTT p.(Pro1382HisfsTer4) NC_000011.10:108289009:T: Analogous +NM_001005862.3:c.1520del NP_001005862.1:p.Gly507fs NC_000017.11:39716393:GGGG:GGG p.(Gly507AlafsTer19) NC_000017.11:39716393:GGGG:GGG p.(Gly507AlafsTer19) NC_000017.11:39716396:G: Analogous +NM_002430.3:c.3274G>A NP_002421.3:p.Gly1092Arg NC_000022.11:27797269:C:T p.(Gly1092Arg) NC_000022.11:27797269:C:T p.(Gly1092Arg) NC_000022.11:27797269:C:T Identity +NM_001282874.2:c.1874A>G NP_001269803.1:p.Asp625Gly NC_000023.11:129490133:T:C p.(Asp625Gly) NC_000023.11:129490133:T:C p.(Asp625Gly) NC_000023.11:129490133:T:C Identity +NM_000268.4:c.1395_1396delinsAT NP_000259.1:p.Arg466Ter NC_000022.11:29674889:GC:AT p.(Arg466Ter) NC_000022.11:29674889:GC:AT p.(Arg466Ter) NC_000022.11:29674889:GC:AT Identity +NM_002878.4:c.173T>A NP_002869.3:p.Leu58Gln NC_000017.11:35118590:A:T p.(Leu58Gln) NC_000017.11:35118590:A:T p.(Leu58Gln) NC_000017.11:35118590:A:T Identity +NM_001346599.2:c.969G>C NP_001333528.1:p.Leu323Phe NC_000007.14:105550355:G:C p.(Leu323Phe) NC_000007.14:105550355:G:C p.(Leu323Phe) NC_000007.14:105550355:G:C Identity +NM_058216.3:c.793C>A NP_478123.1:p.Leu265Ile NC_000017.11:58709945:C:A p.(Leu265Ile) NC_000017.11:58709945:C:A p.(Leu265Ile) NC_000017.11:58709945:C:A Identity +NM_001005407.2:c.4018G>A NP_001005407.1:p.Val1340Met NC_000016.10:1210630:G:A p.(Val1340Met) NC_000016.10:1210630:G:A p.(Val1340Met) NC_000016.10:1210630:G:A Identity +NM_145290.4:c.2573C>T NP_660333.2:p.Ala858Val NC_000004.12:22392598:G:A p.(Ala858Val) NC_000004.12:22392598:G:A p.(Ala858Val) NC_000004.12:22392598:G:A Identity +NM_001122681.2:c.1385C>T NP_001116153.1:p.Thr462Met NC_000004.12:2831956:C:T p.(Thr462Met) NC_000004.12:2831956:C:T p.(Thr462Met) NC_000004.12:2831956:C:T Identity +NM_001164617.2:c.958C>G NP_001158089.1:p.Leu320Val NC_000023.11:133753555:G:C p.(Leu320Val) NC_000023.11:133753555:G:C p.(Leu320Val) NC_000023.11:133753555:G:C Identity +NM_004369.4:c.6917G>A NP_004360.2:p.Arg2306His NC_000002.12:237348625:C:T p.(Arg2306His) NC_000002.12:237348625:C:T p.(Arg2306His) NC_000002.12:237348625:C:T Identity +NM_000088.4:c.2645G>A NP_000079.2:p.Arg882Gln NC_000017.11:50189700:C:T p.(Arg882Gln) NC_000017.11:50189700:C:T p.(Arg882Gln) NC_000017.11:50189700:C:T Identity +NM_001313726.2:c.1112A>G NP_001300655.1:p.Tyr371Cys NC_000011.10:26534514:A:G p.(Tyr371Cys) NC_000011.10:26534514:A:G p.(Tyr371Cys) NC_000011.10:26534514:A:G Identity +NM_000249.4:c.1244A>T NP_000240.1:p.Asp415Val NC_000003.12:37025841:A:T p.(Asp415Val) NC_000003.12:37025841:A:T p.(Asp415Val) NC_000003.12:37025841:A:T Identity +NM_001184900.3:c.1245A>T NP_001171829.1:p.Gln415His NC_000019.10:48218928:T:A p.(Gln415His) NC_000019.10:48218928:T:A p.(Gln415His) NC_000019.10:48218928:T:A Identity +NM_000268.4:c.1343C>G NP_000259.1:p.Ala448Gly NC_000022.11:29674837:C:G p.(Ala448Gly) NC_000022.11:29674837:C:G p.(Ala448Gly) NC_000022.11:29674837:C:G Identity +NM_000051.4:c.1066G>A NP_000042.3:p.Val356Ile NC_000011.10:108248932:G:A p.(Val356Ile) NC_000011.10:108248932:G:A p.(Val356Ile) NC_000011.10:108248932:G:A Identity +NM_000183.3:c.134C>T NP_000174.1:p.Thr45Met NC_000002.12:26263403:C:T p.(Thr45Met) NC_000002.12:26263403:C:T p.(Thr45Met) NC_000002.12:26263403:C:T Identity +NM_002471.4:c.730C>G NP_002462.2:p.Arg244Gly NC_000014.9:23404300:G:C p.(Arg244Gly) NC_000014.9:23404300:G:C p.(Arg244Gly) NC_000014.9:23404300:G:C Identity +NM_000395.3:c.977G>A NP_000386.1:p.Arg326Lys NC_000022.11:36930794:G:A p.(Arg326Lys) NC_000022.11:36930794:G:A p.(Arg326Lys) NC_000022.11:36930794:G:A Identity +NM_002485.5:c.55T>G NP_002476.2:p.Leu19Val NC_000008.11:89982837:A:C p.(Leu19Val) NC_000008.11:89982837:A:C p.(Leu19Val) NC_000008.11:89982837:A:C Identity +NM_001130991.3:c.2789T>G NP_001124463.1:p.Leu930Arg NC_000011.10:119046608:A:C p.(Leu930Arg) NC_000011.10:119046608:A:C p.(Leu930Arg) NC_000011.10:119046608:A:C Identity +NM_001103.4:c.1390A>G NP_001094.1:p.Ile464Val NC_000001.11:236744759:A:G p.(Ile464Val) NC_000001.11:236744759:A:G p.(Ile464Val) NC_000001.11:236744759:A:G Identity +NM_001003800.2:c.464A>G NP_001003800.1:p.Asn155Ser NC_000009.12:92722797:T:C p.(Asn155Ser) NC_000009.12:92722797:T:C p.(Asn155Ser) NC_000009.12:92722797:T:C Identity +NM_004565.3:c.602A>C NP_004556.1:p.Asn201Thr NC_000001.11:10627287:A:C p.(Asn201Thr) NC_000001.11:10627287:A:C p.(Asn201Thr) NC_000001.11:10627287:A:C Identity +NM_001290307.3:c.1661A>G NP_001277236.1:p.His554Arg NC_000005.10:138924623:A:G p.(His554Arg) NC_000005.10:138924623:A:G p.(His554Arg) NC_000005.10:138924623:A:G Identity +NM_015512.5:c.7211A>G NP_056327.4:p.His2404Arg NC_000003.12:52378613:A:G p.(His2404Arg) NC_000003.12:52378613:A:G p.(His2404Arg) NC_000003.12:52378613:A:G Identity +NM_001289905.2:c.565A>G NP_001276834.1:p.Arg189Gly NC_000022.11:17102009:A:G p.(Arg189Gly) NC_000022.11:17102009:A:G p.(Arg189Gly) NC_000022.11:17102009:A:G Identity +NM_000465.4:c.104C>A NP_000456.2:p.Ala35Asp NC_000002.12:214809465:G:T p.(Ala35Asp) NC_000002.12:214809465:G:T p.(Ala35Asp) NC_000002.12:214809465:G:T Identity +NM_001024688.3:c.1824G>T NP_001019859.1:p.Lys608Asn NC_000008.11:89946139:C:A p.(Lys608Asn) NC_000008.11:89946139:C:A p.(Lys608Asn) NC_000008.11:89946139:C:A Identity +NM_001127493.3:c.2525G>C NP_001120965.1:p.Arg842Thr NC_000004.12:113311293:G:C p.(Arg842Thr) NC_000004.12:113311293:G:C p.(Arg842Thr) NC_000004.12:113311293:G:C Identity +NM_001308133.2:c.5213C>T NP_001295062.1:p.Thr1738Ile NC_000014.9:45189312:C:T p.(Thr1738Ile) NC_000014.9:45189312:C:T p.(Thr1738Ile) NC_000014.9:45189312:C:T Identity +NM_006361.6:c.308C>T NP_006352.2:p.Ala103Val NC_000017.11:48728285:G:A p.(Ala103Val) NC_000017.11:48728285:G:A p.(Ala103Val) NC_000017.11:48728285:G:A Identity +NM_000077.5:c.202G>C NP_000068.1:p.Ala68Pro NC_000009.12:21971156:C:G p.(Ala68Pro) NC_000009.12:21971156:C:G p.(Ala68Pro) NC_000009.12:21971156:C:G Identity +NM_001184985.2:c.1933C>T NP_001171914.1:p.Pro645Ser NC_000012.12:861324:C:T p.(Pro645Ser) NC_000012.12:861324:C:T p.(Pro645Ser) NC_000012.12:861324:C:T Identity +NM_000426.4:c.9275A>C NP_000417.3:p.Lys3092Thr NC_000006.12:129516252:A:C p.(Lys3092Thr) NC_000006.12:129516252:A:C p.(Lys3092Thr) NC_000006.12:129516252:A:C Identity +NM_015488.5:c.1135A>T NP_056303.3:p.Lys379Ter NC_000002.12:218344957:A:T p.(Lys379Ter) NC_000002.12:218344957:A:T p.(Lys379Ter) NC_000002.12:218344957:A:T Identity +NM_152542.5:c.974C>T NP_689755.3:p.Ala325Val NC_000004.12:88265013:G:A p.(Ala325Val) NC_000004.12:88265013:G:A p.(Ala325Val) NC_000004.12:88265013:G:A Identity +NM_000234.3:c.2252A>C NP_000225.1:p.Asp751Ala NC_000019.10:48121302:T:G p.(Asp751Ala) NC_000019.10:48121302:T:G p.(Asp751Ala) NC_000019.10:48121302:T:G Identity +NM_001165928.4:c.1106C>G NP_001159400.3:p.Thr369Ser NC_000003.12:49531616:C:G p.(Thr369Ser) NC_000003.12:49531616:C:G p.(Thr369Ser) NC_000003.12:49531616:C:G Identity +NM_001283.5:c.358G>C NP_001274.1:p.Gly120Arg NC_000007.14:101159124:G:C p.(Gly120Arg) NC_000007.14:101159124:G:C p.(Gly120Arg) NC_000007.14:101159124:G:C Identity +NM_001081640.2:c.9788A>G NP_001075109.1:p.His3263Arg NC_000008.11:47803439:T:C p.(His3263Arg) NC_000008.11:47803439:T:C p.(His3263Arg) NC_000008.11:47803439:T:C Identity +NM_198525.3:c.2758G>C NP_940927.2:p.Glu920Gln NC_000015.10:89632956:C:G p.(Glu920Gln) NC_000015.10:89632956:C:G p.(Glu920Gln) NC_000015.10:89632956:C:G Identity +NM_000202.8:c.898T>G NP_000193.1:p.Tyr300Asp NC_000023.11:149490421:A:C p.(Tyr300Asp) NC_000023.11:149490421:A:C p.(Tyr300Asp) NC_000023.11:149490421:A:C Identity +NM_000368.5:c.881C>T NP_000359.1:p.Thr294Ile NC_000009.12:132912313:G:A p.(Thr294Ile) NC_000009.12:132912313:G:A p.(Thr294Ile) NC_000009.12:132912313:G:A Identity +NM_001081955.3:c.1973G>A NP_001075424.1:p.Arg658Gln NC_000017.11:65227363:G:A p.(Arg658Gln) NC_000017.11:65227363:G:A p.(Arg658Gln) NC_000017.11:65227363:G:A Identity +NM_020549.5:c.275C>A NP_065574.4:p.Pro92Gln NC_000010.11:49614463:C:A p.(Pro92Gln) NC_000010.11:49614463:C:A p.(Pro92Gln) NC_000010.11:49614463:C:A Identity +NM_020461.4:c.1789G>A NP_065194.3:p.Val597Ile NC_000022.11:50226093:C:T p.(Val597Ile) NC_000022.11:50226093:C:T p.(Val597Ile) NC_000022.11:50226093:C:T Identity +NM_001130823.3:c.3395G>C NP_001124295.1:p.Gly1132Ala NC_000019.10:10140908:C:G p.(Gly1132Ala) NC_000019.10:10140908:C:G p.(Gly1132Ala) NC_000019.10:10140908:C:G Identity +NM_001256849.1:c.2668G>C NP_001243778.1:p.Ala890Pro NC_000019.10:50415540:G:C p.(Ala890Pro) NC_000019.10:50415540:G:C p.(Ala890Pro) NC_000019.10:50415540:G:C Identity +NM_000562.3:c.499G>A NP_000553.1:p.Val167Met NC_000001.11:56881478:G:A p.(Val167Met) NC_000001.11:56881478:G:A p.(Val167Met) NC_000001.11:56881478:G:A Identity +NM_001374321.1:c.1201A>G NP_001361250.1:p.Arg401Gly NC_000008.11:100213193:A:G p.(Arg401Gly) NC_000008.11:100213193:A:G p.(Arg401Gly) NC_000008.11:100213193:A:G Identity +NM_001036.6:c.2753A>G NP_001027.3:p.Tyr918Cys NC_000015.10:33630012:A:G p.(Tyr918Cys) NC_000015.10:33630012:A:G p.(Tyr918Cys) NC_000015.10:33630012:A:G Identity +NM_015072.5:c.2210G>A NP_055887.3:p.Arg737Gln NC_000014.9:75775556:G:A p.(Arg737Gln) NC_000014.9:75775556:G:A p.(Arg737Gln) NC_000014.9:75775556:G:A Identity +NM_000170.3:c.2616G>C NP_000161.2:p.Lys872Asn NC_000009.12:6540099:C:G p.(Lys872Asn) NC_000009.12:6540099:C:G p.(Lys872Asn) NC_000009.12:6540099:C:G Identity +NM_001206927.2:c.11645A>G NP_001193856.1:p.His3882Arg NC_000006.12:38938054:A:G p.(His3882Arg) NC_000006.12:38938054:A:G p.(His3882Arg) NC_000006.12:38938054:A:G Identity +NM_000092.5:c.734C>T NP_000083.3:p.Pro245Leu NC_000002.12:227108581:G:A p.(Pro245Leu) NC_000002.12:227108581:G:A p.(Pro245Leu) NC_000002.12:227108581:G:A Identity +NM_000548.5:c.5144T>C NP_000539.2:p.Met1715Thr NC_000016.10:2088122:T:C p.(Met1715Thr) NC_000016.10:2088122:T:C p.(Met1715Thr) NC_000016.10:2088122:T:C Identity +NM_173477.5:c.152T>C NP_775748.2:p.Ile51Thr NC_000017.11:74922921:A:G p.(Ile51Thr) NC_000017.11:74922921:A:G p.(Ile51Thr) NC_000017.11:74922921:A:G Identity +NM_000264.5:c.2477T>C NP_000255.2:p.Phe826Ser NC_000009.12:95467198:A:G p.(Phe826Ser) NC_000009.12:95467198:A:G p.(Phe826Ser) NC_000009.12:95467198:A:G Identity +NM_001276468.2:c.347C>T NP_001263397.1:p.Ser116Phe NC_000012.12:57630496:G:A p.(Ser116Phe) NC_000012.12:57630496:G:A p.(Ser116Phe) NC_000012.12:57630496:G:A Identity +NM_015662.3:c.3044A>G NP_056477.1:p.Asp1015Gly NC_000002.12:27457907:T:C p.(Asp1015Gly) NC_000002.12:27457907:T:C p.(Asp1015Gly) NC_000002.12:27457907:T:C Identity +NM_205836.3:c.2182G>A NP_995308.1:p.Val728Ile NC_000005.10:148427475:G:A p.(Val728Ile) NC_000005.10:148427475:G:A p.(Val728Ile) NC_000005.10:148427475:G:A Identity +NM_001127221.2:c.5546A>T NP_001120693.1:p.Tyr1849Phe NC_000019.10:13228780:T:A p.(Tyr1849Phe) NC_000019.10:13228780:T:A p.(Tyr1849Phe) NC_000019.10:13228780:T:A Identity +NM_001079812.3:c.977G>T NP_001073280.1:p.Arg326Ile NC_000005.10:141578554:C:A p.(Arg326Ile) NC_000005.10:141578554:C:A p.(Arg326Ile) NC_000005.10:141578554:C:A Identity +NM_001199138.2:c.757T>C NP_001186067.1:p.Phe253Leu NC_000002.12:32251106:A:G p.(Phe253Leu) NC_000002.12:32251106:A:G p.(Phe253Leu) NC_000002.12:32251106:A:G Identity +NM_001346897.2:c.529C>T NP_001333826.1:p.Arg177Cys NC_000007.14:55152580:C:T p.(Arg177Cys) NC_000007.14:55152580:C:T p.(Arg177Cys) NC_000007.14:55152580:C:T Identity +NM_001291285.3:c.14740G>A NP_001278214.1:p.Ala4914Thr NC_000004.12:125491558:G:A p.(Ala4914Thr) NC_000004.12:125491558:G:A p.(Ala4914Thr) NC_000004.12:125491558:G:A Identity +NM_001303249.3:c.323C>T NP_001290178.1:p.Ala108Val NC_000005.10:110742085:C:T p.(Ala108Val) NC_000005.10:110742085:C:T p.(Ala108Val) NC_000005.10:110742085:C:T Identity +NM_006445.4:c.6297G>C NP_006436.3:p.Glu2099Asp NC_000017.11:1653613:C:G p.(Glu2099Asp) NC_000017.11:1653613:C:G p.(Glu2099Asp) NC_000017.11:1653613:C:G Identity +NM_000350.3:c.3372C>G NP_000341.2:p.Asp1124Glu NC_000001.11:94041358:G:C p.(Asp1124Glu) NC_000001.11:94041358:G:C p.(Asp1124Glu) NC_000001.11:94041358:G:C Identity +NM_001001563.5:c.926C>A NP_001001563.2:p.Ala309Glu NC_000019.10:39488610:C:A p.(Ala309Glu) NC_000019.10:39488610:C:A p.(Ala309Glu) NC_000019.10:39488610:C:A Identity +NM_001039348.3:c.172G>A NP_001034437.1:p.Gly58Arg NC_000002.12:55918009:C:T p.(Gly58Arg) NC_000002.12:55918009:C:T p.(Gly58Arg) NC_000002.12:55918009:C:T Identity +NM_001257158.2:c.28C>A NP_001244087.1:p.Pro10Thr NC_000007.14:130440938:G:T p.(Pro10Thr) NC_000007.14:130440938:G:T p.(Pro10Thr) NC_000007.14:130440938:G:T Identity +NM_001134771.2:c.1370G>A NP_001128243.1:p.Gly457Asp NC_000020.11:46043695:G:A p.(Gly457Asp) NC_000020.11:46043695:G:A p.(Gly457Asp) NC_000020.11:46043695:G:A Identity +NM_001278055.2:c.788T>C NP_001264984.1:p.Leu263Ser NC_000013.11:23355382:A:G p.(Leu263Ser) NC_000013.11:23355382:A:G p.(Leu263Ser) NC_000013.11:23355382:A:G Identity +NM_001164688.2:c.31G>A NP_001158160.1:p.Glu11Lys NC_000001.11:211481384:C:T p.(Glu11Lys) NC_000001.11:211481384:C:T p.(Glu11Lys) NC_000001.11:211481384:C:T Identity +NM_001303256.3:c.1924C>T NP_001290185.1:p.Arg642Ter NC_000022.11:30935049:G:A p.(Arg642Ter) NC_000022.11:30935049:G:A p.(Arg642Ter) NC_000022.11:30935049:G:A Identity +NM_001111125.3:c.1008G>T NP_001104595.1:p.Met336Ile NC_000023.11:53254922:C:A p.(Met336Ile) NC_000023.11:53254922:C:A p.(Met336Ile) NC_000023.11:53254922:C:A Identity +NM_004260.4:c.512G>T NP_004251.4:p.Arg171Leu NC_000008.11:144516606:C:A p.(Arg171Leu) NC_000008.11:144516606:C:A p.(Arg171Leu) NC_000008.11:144516606:C:A Identity +NM_001005373.4:c.914G>A NP_001005373.1:p.Arg305Gln NC_000009.12:127479848:G:A p.(Arg305Gln) NC_000009.12:127479848:G:A p.(Arg305Gln) NC_000009.12:127479848:G:A Identity +NM_001375397.1:c.359G>A NP_001362326.1:p.Gly120Asp NC_000006.12:53019358:C:T p.(Gly120Asp) NC_000006.12:53019358:C:T p.(Gly120Asp) NC_000006.12:53019358:C:T Identity +NM_173354.5:c.1988T>C NP_775490.2:p.Leu663Ser NC_000021.9:43417105:A:G p.(Leu663Ser) NC_000021.9:43417105:A:G p.(Leu663Ser) NC_000021.9:43417105:A:G Identity +NM_002299.4:c.424C>T NP_002290.2:p.Arg142Trp NC_000002.12:135836745:G:A p.(Arg142Trp) NC_000002.12:135836745:G:A p.(Arg142Trp) NC_000002.12:135836745:G:A Identity +NM_005045.4:c.8174C>T NP_005036.2:p.Ser2725Phe NC_000007.14:103510950:G:A p.(Ser2725Phe) NC_000007.14:103510950:G:A p.(Ser2725Phe) NC_000007.14:103510950:G:A Identity +NM_000368.5:c.1817A>C NP_000359.1:p.His606Pro NC_000009.12:132905760:T:G p.(His606Pro) NC_000009.12:132905760:T:G p.(His606Pro) NC_000009.12:132905760:T:G Identity +NM_001042594.2:c.295G>T NP_001036059.1:p.Ala99Ser NC_000007.14:124858970:C:A p.(Ala99Ser) NC_000007.14:124858970:C:A p.(Ala99Ser) NC_000007.14:124858970:C:A Identity +NM_000323.2:c.422G>C NP_000314.1:p.Gly141Ala NC_000010.11:43102425:G:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000246.4:c.437C>G NP_000237.2:p.Pro146Arg NC_000016.10:10901513:C:G p.(Pro146Arg) NC_000016.10:10901513:C:G p.(Pro146Arg) NC_000016.10:10901513:C:G Identity +NM_015243.3:c.1221A>C NP_056058.2:p.Gln407His NC_000008.11:99134645:A:C p.(Gln407His) NC_000008.11:99134645:A:C p.(Gln407His) NC_000008.11:99134645:A:C Identity +NM_004813.4:c.811C>T NP_004804.2:p.Arg271Trp NC_000011.10:45913894:G:A p.(Arg271Trp) NC_000011.10:45913894:G:A p.(Arg271Trp) NC_000011.10:45913894:G:A Identity +NM_001195305.3:c.254A>G NP_001182234.1:p.Lys85Arg NC_000010.11:110900384:T:C p.(Lys85Arg) NC_000010.11:110900384:T:C p.(Lys85Arg) NC_000010.11:110900384:T:C Identity +NM_000445.5:c.883G>A NP_000436.2:p.Val295Met NC_000008.11:143935033:C:T p.(Val295Met) NC_000008.11:143935033:C:T p.(Val295Met) NC_000008.11:143935033:C:T Identity +NM_001195573.1:c.3304A>T NP_001182502.1:p.Ile1102Phe NC_000014.9:95104091:T:A p.(Ile1102Phe) NC_000014.9:95104091:T:A p.(Ile1102Phe) NC_000014.9:95104091:T:A Identity +NM_000391.4:c.76G>A NP_000382.3:p.Asp26Asn NC_000011.10:6619208:C:T p.(Asp26Asn) NC_000011.10:6619208:C:T p.(Asp26Asn) NC_000011.10:6619208:C:T Identity +NM_001363813.1:c.560A>G NP_001350742.1:p.Tyr187Cys NC_000017.11:65558060:T:C p.(Tyr187Cys) NC_000017.11:65558060:T:C p.(Tyr187Cys) NC_000017.11:65558060:T:C Identity +NM_000719.7:c.101C>A NP_000710.5:p.Ala34Glu NC_000012.12:2115274:C:A p.(Ala34Glu) NC_000012.12:2115274:C:A p.(Ala34Glu) NC_000012.12:2115274:C:A Identity +NM_001347827.2:c.439A>G NP_001334756.1:p.Ile147Val NC_000004.12:54263737:A:G p.(Ile147Val) NC_000004.12:54263737:A:G p.(Ile147Val) NC_000004.12:54263737:A:G Identity +NM_000257.4:c.3508G>A NP_000248.2:p.Glu1170Lys NC_000014.9:23420062:C:T p.(Glu1170Lys) NC_000014.9:23420062:C:T p.(Glu1170Lys) NC_000014.9:23420062:C:T Identity +NM_000548.5:c.1507C>G NP_000539.2:p.Gln503Glu NC_000016.10:2064334:C:G p.(Gln503Glu) NC_000016.10:2064334:C:G p.(Gln503Glu) NC_000016.10:2064334:C:G Identity +NM_004104.5:c.5541G>T NP_004095.4:p.Lys1847Asn NC_000017.11:82083225:C:A p.(Lys1847Asn) NC_000017.11:82083225:C:A p.(Lys1847Asn) NC_000017.11:82083225:C:A Identity +NM_004076.5:c.503G>A NP_004067.1:p.Gly168Glu NC_000022.11:25207078:G:A p.(Gly168Glu) NC_000022.11:25207078:G:A p.(Gly168Glu) NC_000022.11:25207078:G:A Identity +NM_000495.5:c.3860C>T NP_000486.1:p.Pro1287Leu NC_000023.11:108677568:C:T p.(Pro1287Leu) NC_000023.11:108677568:C:T p.(Pro1287Leu) NC_000023.11:108677568:C:T Identity +NM_001376.5:c.5594A>G NP_001367.2:p.Lys1865Arg NC_000014.9:102006047:A:G p.(Lys1865Arg) NC_000014.9:102006047:A:G p.(Lys1865Arg) NC_000014.9:102006047:A:G Identity +NM_001077416.2:c.613G>A NP_001070884.2:p.Val205Met NC_000016.10:75545479:C:T p.(Val205Met) NC_000016.10:75545479:C:T p.(Val205Met) NC_000016.10:75545479:C:T Identity +NM_001363907.1:c.1112G>A NP_001350836.1:p.Arg371His NC_000016.10:85920201:G:A p.(Arg371His) NC_000016.10:85920201:G:A p.(Arg371His) NC_000016.10:85920201:G:A Identity +NM_001353765.2:c.1279T>A NP_001340694.1:p.Ser427Thr NC_000002.12:29193603:A:T p.(Ser427Thr) NC_000002.12:29193603:A:T p.(Ser427Thr) NC_000002.12:29193603:A:T Identity +NM_001174063.2:c.454G>C NP_001167534.1:p.Ala152Pro NC_000008.11:38428087:C:G p.(Ala152Pro) NC_000008.11:38428087:C:G p.(Ala152Pro) NC_000008.11:38428087:C:G Identity +NM_001407571.1:c.2804A>C NP_001394500.1:p.His935Pro NC_000017.11:43092513:T:G p.(His935Pro) NC_000017.11:43092513:T:G p.(His935Pro) NC_000017.11:43092513:T:G Identity +NM_004360.5:c.1207G>T NP_004351.1:p.Ala403Ser NC_000016.10:68813381:G:T p.(Ala403Ser) NC_000016.10:68813381:G:T p.(Ala403Ser) NC_000016.10:68813381:G:T Identity +NM_000057.4:c.3456C>A NP_000048.1:p.Asp1152Glu NC_000015.10:90803617:C:A p.(Asp1152Glu) NC_000015.10:90803617:C:A p.(Asp1152Glu) NC_000015.10:90803617:C:A Identity +NM_003803.4:c.2643A>T NP_003794.3:p.Lys881Asn NC_000018.10:3129382:T:A p.(Lys881Asn) NC_000018.10:3129382:T:A p.(Lys881Asn) NC_000018.10:3129382:T:A Identity +NM_138704.4:c.59A>G NP_619649.1:p.Asp20Gly NC_000015.10:29269646:T:C p.(Asp20Gly) NC_000015.10:29269646:T:C p.(Asp20Gly) NC_000015.10:29269646:T:C Identity +NM_001005360.3:c.2593G>C NP_001005360.1:p.Glu865Gln NC_000019.10:10831026:G:C p.(Glu865Gln) NC_000019.10:10831026:G:C p.(Glu865Gln) NC_000019.10:10831026:G:C Identity +NM_033071.5:c.13443C>A NP_149062.2:p.His4481Gln NC_000006.12:152331028:G:T p.(His4481Gln) NC_000006.12:152331028:G:T p.(His4481Gln) NC_000006.12:152331028:G:T Identity +NM_001243776.2:c.236T>C NP_001230705.1:p.Ile79Thr NC_000011.10:95812991:T:C p.(Ile79Thr) NC_000011.10:95812991:T:C p.(Ile79Thr) NC_000011.10:95812991:T:C Identity +NM_001271933.2:c.2822T>G NP_001258862.1:p.Val941Gly NC_000011.10:117394971:T:G p.(Val941Gly) NC_000011.10:117394971:T:G p.(Val941Gly) NC_000011.10:117394971:T:G Identity +NM_001201484.2:c.470C>T NP_001188413.1:p.Ala157Val NC_000009.12:35095095:G:A p.(Ala157Val) NC_000009.12:35095095:G:A p.(Ala157Val) NC_000009.12:35095095:G:A Identity +NM_014141.6:c.1300C>T NP_054860.1:p.His434Tyr NC_000007.14:147132460:C:T p.(His434Tyr) NC_000007.14:147132460:C:T p.(His434Tyr) NC_000007.14:147132460:C:T Identity +NM_002641.4:c.680C>G NP_002632.1:p.Thr227Ser NC_000023.11:15331250:G:C p.(Thr227Ser) NC_000023.11:15331250:G:C p.(Thr227Ser) NC_000023.11:15331250:G:C Identity +NM_003320.5:c.866C>G NP_003311.2:p.Ala289Gly NC_000011.10:8097240:C:G p.(Ala289Gly) NC_000011.10:8097240:C:G p.(Ala289Gly) NC_000011.10:8097240:C:G Identity +NM_001099922.3:c.3301G>C NP_001093392.1:p.Val1101Leu NC_000023.11:111759885:G:C p.(Val1101Leu) NC_000023.11:111759885:G:C p.(Val1101Leu) NC_000023.11:111759885:G:C Identity +NM_001142800.2:c.2357G>C NP_001136272.1:p.Cys786Ser NC_000006.12:64945816:C:G p.(Cys786Ser) NC_000006.12:64945816:C:G p.(Cys786Ser) NC_000006.12:64945816:C:G Identity +NM_004656.4:c.994C>T NP_004647.1:p.Pro332Ser NC_000003.12:52405231:G:A p.(Pro332Ser) NC_000003.12:52405231:G:A p.(Pro332Ser) NC_000003.12:52405231:G:A Identity +NM_001130955.2:c.3127C>T NP_001124427.2:p.Arg1043Trp NC_000019.10:7469968:C:T p.(Arg1043Trp) NC_000019.10:7469968:C:T p.(Arg1043Trp) NC_000019.10:7469968:C:T Identity +NM_001031714.4:c.2942G>A NP_001026884.3:p.Arg981Lys NC_000014.9:104713507:G:A p.(Arg981Lys) NC_000014.9:104713507:G:A p.(Arg981Lys) NC_000014.9:104713507:G:A Identity +NM_001350411.1:c.227A>T NP_001337340.1:p.Gln76Leu NC_000006.12:71969044:A:T p.(Gln76Leu) NC_000006.12:71969044:A:T p.(Gln76Leu) NC_000006.12:71969044:A:T Identity +NM_001042663.3:c.995A>T NP_001036128.2:p.Asp332Val NC_000001.11:6473085:T:A p.(Asp332Val) NC_000001.11:6473085:T:A p.(Asp332Val) NC_000001.11:6473085:T:A Identity +NM_198525.3:c.2012T>G NP_940927.2:p.Leu671Trp NC_000015.10:89645361:A:C p.(Leu671Trp) NC_000015.10:89645361:A:C p.(Leu671Trp) NC_000015.10:89645361:A:C Identity +NM_001008537.3:c.2210G>T NP_001008537.1:p.Gly737Val NC_000023.11:74742346:C:A p.(Gly737Val) NC_000023.11:74742346:C:A p.(Gly737Val) NC_000023.11:74742346:C:A Identity +NM_002661.5:c.839C>G NP_002652.2:p.Thr280Ser NC_000016.10:81889244:C:G p.(Thr280Ser) NC_000016.10:81889244:C:G p.(Thr280Ser) NC_000016.10:81889244:C:G Identity +NM_152743.4:c.2453C>T NP_689956.2:p.Ala818Val NC_000007.14:2538081:G:A p.(Ala818Val) NC_000007.14:2538081:G:A p.(Ala818Val) NC_000007.14:2538081:G:A Identity +NM_025099.6:c.1133A>G NP_079375.3:p.Gln378Arg NC_000017.11:8235903:T:C p.(Gln378Arg) NC_000017.11:8235903:T:C p.(Gln378Arg) NC_000017.11:8235903:T:C Identity +NM_000135.4:c.1627C>T NP_000126.2:p.Pro543Ser NC_000016.10:89779956:G:A p.(Pro543Ser) NC_000016.10:89779956:G:A p.(Pro543Ser) NC_000016.10:89779956:G:A Identity +NM_001173425.2:c.533A>C NP_001166896.1:p.Glu178Ala NC_000009.12:114504268:T:G p.(Glu178Ala) NC_000009.12:114504268:T:G p.(Glu178Ala) NC_000009.12:114504268:T:G Identity +NM_025099.6:c.2996C>T NP_079375.3:p.Pro999Leu NC_000017.11:8229905:G:A p.(Pro999Leu) NC_000017.11:8229905:G:A p.(Pro999Leu) NC_000017.11:8229905:G:A Identity +NM_005055.5:c.328C>T NP_005046.2:p.Leu110Phe NC_000011.10:47448014:G:A p.(Leu110Phe) NC_000011.10:47448014:G:A p.(Leu110Phe) NC_000011.10:47448014:G:A Identity +NM_000445.5:c.7715G>A NP_000436.2:p.Arg2572Gln NC_000008.11:143922186:C:T p.(Arg2572Gln) NC_000008.11:143922186:C:T p.(Arg2572Gln) NC_000008.11:143922186:C:T Identity +NM_000038.6:c.2486C>T NP_000029.2:p.Thr829Ile NC_000005.10:112838079:C:T p.(Thr829Ile) NC_000005.10:112838079:C:T p.(Thr829Ile) NC_000005.10:112838079:C:T Identity +NM_001033054.3:c.572G>A NP_001028226.1:p.Ser191Asn NC_000017.11:6426637:C:T p.(Ser191Asn) NC_000017.11:6426637:C:T p.(Ser191Asn) NC_000017.11:6426637:C:T Identity +NM_001005360.3:c.2330C>T NP_001005360.1:p.Pro777Leu NC_000019.10:10830164:C:T p.(Pro777Leu) NC_000019.10:10830164:C:T p.(Pro777Leu) NC_000019.10:10830164:C:T Identity +NM_001145847.2:c.2154C>G NP_001139319.1:p.Ile718Met NC_000004.12:15985986:G:C p.(Ile718Met) NC_000004.12:15985986:G:C p.(Ile718Met) NC_000004.12:15985986:G:C Identity +NM_001113178.3:c.2724A>C NP_001106649.1:p.Glu908Asp NC_000016.10:69692551:A:C p.(Glu908Asp) NC_000016.10:69692551:A:C p.(Glu908Asp) NC_000016.10:69692551:A:C Identity +NM_001621.5:c.1070A>C NP_001612.1:p.Asn357Thr NC_000007.14:17335695:A:C p.(Asn357Thr) NC_000007.14:17335695:A:C p.(Asn357Thr) NC_000007.14:17335695:A:C Identity +NM_001291285.3:c.5246T>C NP_001278214.1:p.Val1749Ala NC_000004.12:125398853:T:C p.(Val1749Ala) NC_000004.12:125398853:T:C p.(Val1749Ala) NC_000004.12:125398853:T:C Identity +NM_001317195.3:c.2147C>T NP_001304124.1:p.Thr716Ile NC_000016.10:68695789:C:T p.(Thr716Ile) NC_000016.10:68695789:C:T p.(Thr716Ile) NC_000016.10:68695789:C:T Identity +NM_000323.2:c.1639G>A NP_000314.1:p.Asp547Asn NC_000010.11:43112214:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_005188.4:c.1649G>A NP_005179.2:p.Arg550Gln NC_000011.10:119285273:G:A p.(Arg550Gln) NC_000011.10:119285273:G:A p.(Arg550Gln) NC_000011.10:119285273:G:A Identity +NM_000179.3:c.2608A>G NP_000170.1:p.Lys870Glu NC_000002.12:47800590:A:G p.(Lys870Glu) NC_000002.12:47800590:A:G p.(Lys870Glu) NC_000002.12:47800590:A:G Identity +NM_001353765.2:c.655G>A NP_001340694.1:p.Gly219Ser NC_000002.12:29207249:C:T p.(Gly219Ser) NC_000002.12:29207249:C:T p.(Gly219Ser) NC_000002.12:29207249:C:T Identity +NM_006231.4:c.5711C>T NP_006222.2:p.Thr1904Ile NC_000012.12:132635991:G:A p.(Thr1904Ile) NC_000012.12:132635991:G:A p.(Thr1904Ile) NC_000012.12:132635991:G:A Identity +NM_001282368.2:c.1484T>C NP_001269297.1:p.Leu495Pro NC_000006.12:75950667:A:G p.(Leu495Pro) NC_000006.12:75950667:A:G p.(Leu495Pro) NC_000006.12:75950667:A:G Identity +NM_001171971.3:c.160G>A NP_001165442.1:p.Val54Ile NC_000010.11:84196512:G:A p.(Val54Ile) NC_000010.11:84196512:G:A p.(Val54Ile) NC_000010.11:84196512:G:A Identity +NM_001256850.1:c.101464G>A NP_001243779.1:p.Gly33822Arg NC_000002.12:178530103:C:T p.(Gly33822Arg) NC_000002.12:178530103:C:T p.(Gly33822Arg) NC_000002.12:178530103:C:T Identity +NM_001352252.2:c.227A>G NP_001339181.1:p.Asp76Gly NC_000013.11:110651074:T:C p.(Asp76Gly) NC_000013.11:110651074:T:C p.(Asp76Gly) NC_000013.11:110651074:T:C Identity +NM_001375.3:c.837A>G NP_001366.1:p.Ile279Met NC_000019.10:12876235:T:C p.(Ile279Met) NC_000019.10:12876235:T:C p.(Ile279Met) NC_000019.10:12876235:T:C Identity +NM_001126054.3:c.1565G>T NP_001119526.1:p.Gly522Val NC_000023.11:41569684:C:A p.(Gly522Val) NC_000023.11:41569684:C:A p.(Gly522Val) NC_000023.11:41569684:C:A Identity +NM_001256545.2:c.2495G>C NP_001243474.1:p.Gly832Ala NC_000005.10:127445459:G:C p.(Gly832Ala) NC_000005.10:127445459:G:C p.(Gly832Ala) NC_000005.10:127445459:G:C Identity +NM_001165966.2:c.656G>C NP_001159438.1:p.Gly219Ala NC_000017.11:6478559:C:G p.(Gly219Ala) NC_000017.11:6478559:C:G p.(Gly219Ala) NC_000017.11:6478559:C:G Identity +NM_001068.3:c.3574G>C NP_001059.2:p.Asp1192His NC_000003.12:25615206:C:G p.(Asp1192His) NC_000003.12:25615206:C:G p.(Asp1192His) NC_000003.12:25615206:C:G Identity +NM_000264.5:c.1087A>G NP_000255.2:p.Met363Val NC_000009.12:95479127:T:C p.(Met363Val) NC_000009.12:95479127:T:C p.(Met363Val) NC_000009.12:95479127:T:C Identity +NM_004562.3:c.317A>G NP_004553.2:p.Asp106Gly NC_000006.12:162262619:T:C p.(Asp106Gly) NC_000006.12:162262619:T:C p.(Asp106Gly) NC_000006.12:162262619:T:C Identity +NM_014141.6:c.3941A>G NP_054860.1:p.Asn1314Ser NC_000007.14:148415560:A:G p.(Asn1314Ser) NC_000007.14:148415560:A:G p.(Asn1314Ser) NC_000007.14:148415560:A:G Identity +NM_001291997.2:c.253A>G NP_001278926.1:p.Lys85Glu NC_000016.10:78386934:A:G p.(Lys85Glu) NC_000016.10:78386934:A:G p.(Lys85Glu) NC_000016.10:78386934:A:G Identity +NM_017841.4:c.157C>A NP_060311.1:p.Pro53Thr NC_000011.10:61437744:C:A p.(Pro53Thr) NC_000011.10:61437744:C:A p.(Pro53Thr) NC_000011.10:61437744:C:A Identity +NM_006361.6:c.813_814dup NP_006352.2:p.Lys272fs NC_000017.11:48726830:TCTCT:TCTCTCT p.(Lys272ArgfsTer8) NC_000017.11:48726830:TCTCT:TCTCTCT p.(Lys272ArgfsTer8) ERR:SPDI Analogous +NM_000456.3:c.61A>G NP_000447.2:p.Ile21Val NC_000012.12:56002552:A:G p.(Ile21Val) NC_000012.12:56002552:A:G p.(Ile21Val) NC_000012.12:56002552:A:G Identity +NM_001007468.3:c.218C>T NP_001007469.1:p.Thr73Met NC_000022.11:23793570:C:T p.(Thr73Met) NC_000022.11:23793570:C:T p.(Thr73Met) NC_000022.11:23793570:C:T Identity +NM_014141.6:c.2072A>G NP_054860.1:p.Lys691Arg NC_000007.14:147639279:A:G p.(Lys691Arg) NC_000007.14:147639279:A:G p.(Lys691Arg) NC_000007.14:147639279:A:G Identity +NM_001161357.2:c.1526C>G NP_001154829.1:p.Pro509Arg NC_000019.10:17778782:C:G p.(Pro509Arg) NC_000019.10:17778782:C:G p.(Pro509Arg) NC_000019.10:17778782:C:G Identity +NM_001040113.2:c.1484A>G NP_001035202.1:p.Asn495Ser NC_000016.10:15757938:T:C p.(Asn495Ser) NC_000016.10:15757938:T:C p.(Asn495Ser) NC_000016.10:15757938:T:C Identity +NM_001164507.2:c.6828G>C NP_001157979.2:p.Trp2276Cys NC_000002.12:151654078:C:G p.(Trp2276Cys) NC_000002.12:151654078:C:G p.(Trp2276Cys) NC_000002.12:151654078:C:G Identity +NM_000166.6:c.218A>G NP_000157.1:p.His73Arg NC_000023.11:71223924:A:G p.(His73Arg) NC_000023.11:71223924:A:G p.(His73Arg) NC_000023.11:71223924:A:G Identity +NM_000554.6:c.728dup NP_000545.1:p.Pro244fs NC_000019.10:47839792:GGG:GGGG p.(Pro244ThrfsTer23) NC_000019.10:47839792:GGG:GGGG p.(Pro244ThrfsTer23) ERR:SPDI Analogous +NM_001277115.2:c.12745G>A NP_001264044.1:p.Glu4249Lys NC_000007.14:21892661:G:A p.(Glu4249Lys) NC_000007.14:21892661:G:A p.(Glu4249Lys) NC_000007.14:21892661:G:A Identity +NM_001166111.2:c.1720G>A NP_001159583.1:p.Val574Ile NC_000019.10:7549990:G:A p.(Val574Ile) NC_000019.10:7549990:G:A p.(Val574Ile) NC_000019.10:7549990:G:A Identity +NM_005045.4:c.374T>C NP_005036.2:p.Met125Thr NC_000007.14:103833635:A:G p.(Met125Thr) NC_000007.14:103833635:A:G p.(Met125Thr) NC_000007.14:103833635:A:G Identity +NM_001003800.2:c.1133G>C NP_001003800.1:p.Gly378Ala NC_000009.12:92719511:C:G p.(Gly378Ala) NC_000009.12:92719511:C:G p.(Gly378Ala) NC_000009.12:92719511:C:G Identity +NM_000135.4:c.558C>G NP_000126.2:p.His186Gln NC_000016.10:89808331:G:C p.(His186Gln) NC_000016.10:89808331:G:C p.(His186Gln) NC_000016.10:89808331:G:C Identity +NM_001110556.2:c.182G>A NP_001104026.1:p.Ser61Asn NC_000023.11:154371063:C:T p.(Ser61Asn) NC_000023.11:154371063:C:T p.(Ser61Asn) NC_000023.11:154371063:C:T Identity +NM_001244008.2:c.934A>C NP_001230937.1:p.Thr312Pro NC_000002.12:240775874:T:G p.(Thr312Pro) NC_000002.12:240775874:T:G p.(Thr312Pro) NC_000002.12:240775874:T:G Identity +NM_000663.5:c.44A>T NP_000654.2:p.Gln15Leu NC_000016.10:8735782:A:T p.(Gln15Leu) NC_000016.10:8735782:A:T p.(Gln15Leu) NC_000016.10:8735782:A:T Identity +NM_001350234.2:c.1483G>A NP_001337163.1:p.Gly495Arg NC_000001.11:9720622:G:A p.(Gly495Arg) NC_000001.11:9720622:G:A p.(Gly495Arg) NC_000001.11:9720622:G:A Identity +NM_000314.8:c.31A>G NP_000305.3:p.Arg11Gly NC_000010.11:87864499:A:G p.(Arg11Gly) NC_000010.11:87864499:A:G p.(Arg11Gly) NC_000010.11:87864499:A:G Identity +NM_021072.4:c.763C>T NP_066550.2:p.Arg255Cys NC_000005.10:45645270:G:A p.(Arg255Cys) NC_000005.10:45645270:G:A p.(Arg255Cys) NC_000005.10:45645270:G:A Identity +NM_001111034.3:c.517G>A NP_001104504.1:p.Glu173Lys NC_000019.10:11576460:C:T p.(Glu173Lys) NC_000019.10:11576460:C:T p.(Glu173Lys) NC_000019.10:11576460:C:T Identity +NM_004329.3:c.1105C>A NP_004320.2:p.Leu369Ile NC_000010.11:86919407:C:A p.(Leu369Ile) NC_000010.11:86919407:C:A p.(Leu369Ile) NC_000010.11:86919407:C:A Identity +NM_022726.4:c.491C>T NP_073563.1:p.Thr164Met NC_000006.12:79921674:G:A p.(Thr164Met) NC_000006.12:79921674:G:A p.(Thr164Met) NC_000006.12:79921674:G:A Identity +NM_001042472.3:c.844G>A NP_001035937.1:p.Ala282Thr NC_000020.11:25307988:C:T p.(Ala282Thr) NC_000020.11:25307988:C:T p.(Ala282Thr) NC_000020.11:25307988:C:T Identity +NM_000724.4:c.925C>T NP_000715.2:p.Leu309Phe NC_000010.11:18534110:C:T p.(Leu309Phe) NC_000010.11:18534110:C:T p.(Leu309Phe) NC_000010.11:18534110:C:T Identity +NM_000253.4:c.2315G>A NP_000244.2:p.Arg772His NC_000004.12:99619070:G:A p.(Arg772His) NC_000004.12:99619070:G:A p.(Arg772His) NC_000004.12:99619070:G:A Identity +NM_020949.3:c.910A>T NP_066000.2:p.Ser304Cys NC_000003.12:170483518:T:A p.(Ser304Cys) NC_000003.12:170483518:T:A p.(Ser304Cys) NC_000003.12:170483518:T:A Identity +NM_001199427.2:c.763C>T NP_001186356.1:p.Arg255Trp NC_000014.9:102903305:C:T p.(Arg255Trp) NC_000014.9:102903305:C:T p.(Arg255Trp) NC_000014.9:102903305:C:T Identity +NM_014053.4:c.362A>G NP_054772.1:p.Asn121Ser NC_000001.11:212858813:A:G p.(Asn121Ser) NC_000001.11:212858813:A:G p.(Asn121Ser) NC_000001.11:212858813:A:G Identity +NM_001160227.2:c.6358G>A NP_001153699.1:p.Glu2120Lys NC_000015.10:44567480:C:T p.(Glu2120Lys) NC_000015.10:44567480:C:T p.(Glu2120Lys) NC_000015.10:44567480:C:T Identity +NM_001242778.2:c.8C>G NP_001229707.1:p.Ser3Cys NC_000008.11:42272189:C:G p.(Ser3Cys) NC_000008.11:42272189:C:G p.(Ser3Cys) NC_000008.11:42272189:C:G Identity +NM_024334.3:c.326A>G NP_077310.1:p.His109Arg NC_000003.12:14131607:A:G p.(His109Arg) NC_000003.12:14131607:A:G p.(His109Arg) NC_000003.12:14131607:A:G Identity +NM_001303256.3:c.1305G>T NP_001290185.1:p.Glu435Asp NC_000022.11:30937878:C:A p.(Glu435Asp) NC_000022.11:30937878:C:A p.(Glu435Asp) NC_000022.11:30937878:C:A Identity +NM_000551.4:c.29A>G NP_000542.1:p.Glu10Gly NC_000003.12:10141875:A:G p.(Glu10Gly) NC_000003.12:10141875:A:G p.(Glu10Gly) NC_000003.12:10141875:A:G Identity +NM_000097.7:c.229G>A NP_000088.3:p.Gly77Arg NC_000003.12:98593275:C:T p.(Gly77Arg) NC_000003.12:98593275:C:T p.(Gly77Arg) NC_000003.12:98593275:C:T Identity +NM_001257374.3:c.911C>T NP_001244303.1:p.Thr304Ile NC_000001.11:156136302:C:T p.(Thr304Ile) NC_000001.11:156136302:C:T p.(Thr304Ile) NC_000001.11:156136302:C:T Identity +NM_053025.4:c.343C>T NP_444253.3:p.Arg115Cys NC_000003.12:123752360:G:A p.(Arg115Cys) NC_000003.12:123752360:G:A p.(Arg115Cys) NC_000003.12:123752360:G:A Identity +NM_020964.3:c.5584G>T NP_066015.2:p.Ala1862Ser NC_000018.10:45880157:C:A p.(Ala1862Ser) NC_000018.10:45880157:C:A p.(Ala1862Ser) NC_000018.10:45880157:C:A Identity +NM_001039476.3:c.778C>T NP_001034565.1:p.Leu260Phe NC_000016.10:89748:G:A p.(Leu260Phe) NC_000016.10:89748:G:A p.(Leu260Phe) NC_000016.10:89748:G:A Identity +NM_001177984.3:c.2617G>A NP_001171455.1:p.Gly873Ser NC_000012.12:51765742:G:A p.(Gly873Ser) NC_000012.12:51765742:G:A p.(Gly873Ser) NC_000012.12:51765742:G:A Identity +NM_001130916.3:c.248C>T NP_001124388.1:p.Pro83Leu NC_000009.12:99129004:C:T p.(Pro83Leu) NC_000009.12:99129004:C:T p.(Pro83Leu) NC_000009.12:99129004:C:T Identity +NM_000222.3:c.2132A>C NP_000213.1:p.Glu711Ala NC_000004.12:54729475:A:C p.(Glu711Ala) NC_000004.12:54729475:A:C p.(Glu711Ala) NC_000004.12:54729475:A:C Identity +NM_001033604.2:c.665C>T NP_001028776.1:p.Thr222Ile NC_000007.14:33264336:C:T p.(Thr222Ile) NC_000007.14:33264336:C:T p.(Thr222Ile) NC_000007.14:33264336:C:T Identity +NM_000417.3:c.427G>T NP_000408.1:p.Val143Leu NC_000010.11:6021633:C:A p.(Val143Leu) NC_000010.11:6021633:C:A p.(Val143Leu) NC_000010.11:6021633:C:A Identity +NM_001112808.3:c.1268T>G NP_001106279.3:p.Val423Gly NC_000001.11:74353297:T:G p.(Val423Gly) NC_000001.11:74353297:T:G p.(Val423Gly) NC_000001.11:74353297:T:G Identity +NM_001127396.3:c.1715G>T NP_001120868.1:p.Arg572Leu NC_000019.10:7647751:G:T p.(Arg572Leu) NC_000019.10:7647751:G:T p.(Arg572Leu) NC_000019.10:7647751:G:T Identity +NM_032444.4:c.4036C>T NP_115820.2:p.Pro1346Ser NC_000016.10:3589601:G:A p.(Pro1346Ser) NC_000016.10:3589601:G:A p.(Pro1346Ser) NC_000016.10:3589601:G:A Identity +NM_004483.5:c.502A>G NP_004474.2:p.Ile168Val NC_000016.10:81082885:T:C p.(Ile168Val) NC_000016.10:81082885:T:C p.(Ile168Val) NC_000016.10:81082885:T:C Identity +NM_001365999.1:c.8804G>A NP_001352928.1:p.Arg2935Gln NC_000001.11:43443774:G:A p.(Arg2935Gln) NC_000001.11:43443774:G:A p.(Arg2935Gln) NC_000001.11:43443774:G:A Identity +NM_001324281.3:c.2795G>A NP_001311210.1:p.Arg932Gln NC_000007.14:2915280:C:T p.(Arg932Gln) NC_000007.14:2915280:C:T p.(Arg932Gln) NC_000007.14:2915280:C:T Identity +NM_000179.3:c.3059A>G NP_000170.1:p.Asn1020Ser NC_000002.12:47801041:A:G p.(Asn1020Ser) NC_000002.12:47801041:A:G p.(Asn1020Ser) NC_000002.12:47801041:A:G Identity +NM_001042482.2:c.53A>G NP_001035947.1:p.Lys18Arg NC_000007.14:144765941:T:C p.(Lys18Arg) NC_000007.14:144765941:T:C p.(Lys18Arg) NC_000007.14:144765941:T:C Identity +NM_001037.5:c.412GTC[1] NP_001028.1:p.Val139del NC_000019.10:35033701:CGTCGTC:CGTC p.(Val139del) NC_000019.10:35033702:G:GTC ERR:Parse ERR:Parse Identity +NM_024306.5:c.1028A>G NP_077282.3:p.His343Arg NC_000016.10:74716357:T:C p.(His343Arg) NC_000016.10:74716357:T:C p.(His343Arg) NC_000016.10:74716357:T:C Identity +NM_001293306.2:c.3476T>C NP_001280235.2:p.Phe1159Ser NC_000003.12:38722285:A:G p.(Phe1159Ser) NC_000003.12:38722285:A:G p.(Phe1159Ser) NC_000003.12:38722285:A:G Identity +NM_001042771.3:c.1405C>A NP_001036236.1:p.Leu469Met NC_000001.11:32285590:C:A p.(Leu469Met) NC_000001.11:32285590:C:A p.(Leu469Met) NC_000001.11:32285590:C:A Identity +NM_000249.4:c.463C>G NP_000240.1:p.Leu155Val NC_000003.12:37008822:C:G p.(Leu155Val) NC_000003.12:37008822:C:G p.(Leu155Val) NC_000003.12:37008822:C:G Identity +NM_000629.3:c.115G>A NP_000620.2:p.Asp39Asn NC_000021.9:33335561:G:A p.(Asp39Asn) NC_000021.9:33335561:G:A p.(Asp39Asn) NC_000021.9:33335561:G:A Identity +NM_001110792.2:c.1207C>A NP_001104262.1:p.Pro403Thr NC_000023.11:154030656:G:T p.(Pro403Thr) NC_000023.11:154030656:G:T p.(Pro403Thr) NC_000023.11:154030656:G:T Identity +NM_003880.4:c.648G>C NP_003871.1:p.Trp216Cys NC_000006.12:112068262:G:C p.(Trp216Cys) NC_000006.12:112068262:G:C p.(Trp216Cys) NC_000006.12:112068262:G:C Identity +NM_024577.4:c.3760A>G NP_078853.2:p.Arg1254Gly NC_000005.10:149004817:T:C p.(Arg1254Gly) NC_000005.10:149004817:T:C p.(Arg1254Gly) NC_000005.10:149004817:T:C Identity +NM_001385125.1:c.188G>A NP_001372054.1:p.Arg63Gln NC_000007.14:128775593:C:T p.(Arg63Gln) NC_000007.14:128775593:C:T p.(Arg63Gln) NC_000007.14:128775593:C:T Identity +NM_001098398.2:c.874G>T NP_001091868.1:p.Asp292Tyr NC_000001.11:160313135:C:A p.(Asp292Tyr) NC_000001.11:160313135:C:A p.(Asp292Tyr) NC_000001.11:160313135:C:A Identity +NM_000038.6:c.3137A>C NP_000029.2:p.Asn1046Thr NC_000005.10:112838730:A:C p.(Asn1046Thr) NC_000005.10:112838730:A:C p.(Asn1046Thr) NC_000005.10:112838730:A:C Identity +NM_001127698.2:c.2386C>T NP_001121170.1:p.Arg796Trp NC_000005.10:148120080:C:T p.(Arg796Trp) NC_000005.10:148120080:C:T p.(Arg796Trp) NC_000005.10:148120080:C:T Identity +NM_001382777.1:c.1509_1518del NP_001369706.1:p.Val504fs NC_000002.12:9490473:AATGCGAACC: p.(Val504SerfsTer18) NC_000002.12:9490473:AATGCGAACC: p.(Val504SerfsTer18) NC_000002.12:9490473:AATGCGAACC: Analogous +NM_032043.3:c.1058A>C NP_114432.2:p.Tyr353Ser NC_000017.11:61801334:T:G p.(Tyr353Ser) NC_000017.11:61801334:T:G p.(Tyr353Ser) NC_000017.11:61801334:T:G Identity +NM_006493.4:c.757G>C NP_006484.2:p.Glu253Gln NC_000013.11:77000648:G:C p.(Glu253Gln) NC_000013.11:77000648:G:C p.(Glu253Gln) NC_000013.11:77000648:G:C Identity +NM_003803.4:c.3455del NP_003794.3:p.Gly1152fs NC_000018.10:3102593:CC:C p.(Gly1152GlufsTer5) NC_000018.10:3102593:CC:C p.(Gly1152GlufsTer5) NC_000018.10:3102593:C: Analogous +NM_001130009.3:c.2697G>C NP_001123481.3:p.Gln899His NC_000002.12:17781908:G:C p.(Gln899His) NC_000002.12:17781908:G:C p.(Gln899His) NC_000002.12:17781908:G:C Identity +NM_002439.5:c.1553T>C NP_002430.3:p.Met518Thr NC_000005.10:80728949:T:C p.(Met518Thr) NC_000005.10:80728949:T:C p.(Met518Thr) NC_000005.10:80728949:T:C Identity +NM_001184772.3:c.1511A>G NP_001171701.1:p.Tyr504Cys NC_000023.11:130014282:A:G p.(Tyr504Cys) NC_000023.11:130014282:A:G p.(Tyr504Cys) NC_000023.11:130014282:A:G Identity +NM_001160227.2:c.3262A>G NP_001153699.1:p.Thr1088Ala NC_000015.10:44610868:T:C p.(Thr1088Ala) NC_000015.10:44610868:T:C p.(Thr1088Ala) NC_000015.10:44610868:T:C Identity +NM_001193465.2:c.652G>C NP_001180394.1:p.Glu218Gln NC_000017.11:46171491:C:G p.(Glu218Gln) NC_000017.11:46171491:C:G p.(Glu218Gln) NC_000017.11:46171491:C:G Identity +NM_001306193.2:c.817C>A NP_001293122.1:p.Pro273Thr NC_000023.11:132082405:G:T p.(Pro273Thr) NC_000023.11:132082405:G:T p.(Pro273Thr) NC_000023.11:132082405:G:T Identity +NM_015180.6:c.10073T>G NP_055995.4:p.Leu3358Arg NC_000014.9:64062755:T:G p.(Leu3358Arg) NC_000014.9:64062755:T:G p.(Leu3358Arg) NC_000014.9:64062755:T:G Identity +NM_001378454.1:c.1633A>G NP_001365383.1:p.Thr545Ala NC_000002.12:73448159:A:G p.(Thr545Ala) NC_000002.12:73448159:A:G p.(Thr545Ala) NC_000002.12:73448159:A:G Identity +NM_006270.5:c.509A>G NP_006261.1:p.Glu170Gly NC_000019.10:49635796:T:C p.(Glu170Gly) NC_000019.10:49635796:T:C p.(Glu170Gly) NC_000019.10:49635796:T:C Identity +NM_001103.4:c.616G>T NP_001094.1:p.Asp206Tyr NC_000001.11:236731232:G:T p.(Asp206Tyr) NC_000001.11:236731232:G:T p.(Asp206Tyr) NC_000001.11:236731232:G:T Identity +NM_001034850.3:c.992C>T NP_001030022.1:p.Thr331Ile NC_000005.10:16477669:G:A p.(Thr331Ile) NC_000005.10:16477669:G:A p.(Thr331Ile) NC_000005.10:16477669:G:A Identity +NM_000222.3:c.106C>A NP_000213.1:p.Pro36Thr NC_000004.12:54695549:C:A p.(Pro36Thr) NC_000004.12:54695549:C:A p.(Pro36Thr) NC_000004.12:54695549:C:A Identity +NM_000064.4:c.4084G>A NP_000055.2:p.Asp1362Asn NC_000019.10:6684595:C:T p.(Asp1362Asn) NC_000019.10:6684595:C:T p.(Asp1362Asn) NC_000019.10:6684595:C:T Identity +NM_133497.4:c.661C>T NP_598004.1:p.Arg221Cys NC_000009.12:2718399:C:T p.(Arg221Cys) NC_000009.12:2718399:C:T p.(Arg221Cys) NC_000009.12:2718399:C:T Identity +NM_014244.5:c.3318A>G NP_055059.2:p.Ile1106Met NC_000005.10:179114184:T:C p.(Ile1106Met) NC_000005.10:179114184:T:C p.(Ile1106Met) NC_000005.10:179114184:T:C Identity +NM_002900.3:c.682G>A NP_002891.1:p.Val228Met NC_000010.11:47349165:G:A p.(Val228Met) NC_000010.11:47349165:G:A p.(Val228Met) NC_000010.11:47349165:G:A Identity +NM_001165963.4:c.3019A>G NP_001159435.1:p.Asn1007Asp NC_000002.12:166036457:T:C p.(Asn1007Asp) NC_000002.12:166036457:T:C p.(Asn1007Asp) NC_000002.12:166036457:T:C Identity +NM_000245.4:c.1789G>T NP_000236.2:p.Asp597Tyr NC_000007.14:116755441:G:T p.(Asp597Tyr) NC_000007.14:116755441:G:T p.(Asp597Tyr) NC_000007.14:116755441:G:T Identity +NM_001282708.1:c.677A>C NP_001269637.1:p.Tyr226Ser NC_000009.12:130703134:A:C p.(Tyr226Ser) NC_000009.12:130703134:A:C p.(Tyr226Ser) NC_000009.12:130703134:A:C Identity +NM_001999.4:c.8099C>T NP_001990.2:p.Ser2700Leu NC_000005.10:128263517:G:A p.(Ser2700Leu) NC_000005.10:128263517:G:A p.(Ser2700Leu) NC_000005.10:128263517:G:A Identity +NM_001290307.3:c.2175G>C NP_001277236.1:p.Glu725Asp NC_000005.10:138930636:G:C p.(Glu725Asp) NC_000005.10:138930636:G:C p.(Glu725Asp) NC_000005.10:138930636:G:C Identity +NM_001035.3:c.1231G>A NP_001026.2:p.Glu411Lys NC_000001.11:237445460:G:A p.(Glu411Lys) NC_000001.11:237445460:G:A p.(Glu411Lys) NC_000001.11:237445460:G:A Identity +NM_001165966.2:c.842G>A NP_001159438.1:p.Arg281His NC_000017.11:6477163:C:T p.(Arg281His) NC_000017.11:6477163:C:T p.(Arg281His) NC_000017.11:6477163:C:T Identity +NM_003276.2:c.1921C>G NP_003267.1:p.His641Asp NC_000012.12:98534177:C:G p.(His641Asp) NC_000012.12:98534177:C:G p.(His641Asp) NC_000012.12:98534177:C:G Identity +NM_001195263.2:c.1526G>A NP_001182192.1:p.Gly509Glu NC_000010.11:101016423:C:T p.(Gly509Glu) NC_000010.11:101016423:C:T p.(Gly509Glu) NC_000010.11:101016423:C:T Identity +NM_001040142.2:c.1472C>T NP_001035232.1:p.Ser491Phe NC_000002.12:165315558:C:T p.(Ser491Phe) NC_000002.12:165315558:C:T p.(Ser491Phe) NC_000002.12:165315558:C:T Identity +NM_015662.3:c.1448G>A NP_056477.1:p.Ser483Asn NC_000002.12:27472325:C:T p.(Ser483Asn) NC_000002.12:27472325:C:T p.(Ser483Asn) NC_000002.12:27472325:C:T Identity +NM_000068.4:c.6478C>T NP_000059.3:p.Arg2160Trp NC_000019.10:13209377:G:A p.(Arg2160Trp) NC_000019.10:13209377:G:A p.(Arg2160Trp) NC_000019.10:13209377:G:A Identity +NM_001353765.2:c.1622T>C NP_001340694.1:p.Leu541Pro NC_000002.12:29193260:A:G p.(Leu541Pro) NC_000002.12:29193260:A:G p.(Leu541Pro) NC_000002.12:29193260:A:G Identity +NM_001305005.3:c.451G>A NP_001291934.1:p.Ala151Thr NC_000002.12:107997839:G:A p.(Ala151Thr) NC_000002.12:107997839:G:A p.(Ala151Thr) NC_000002.12:107997839:G:A Identity +NM_004958.4:c.5237T>C NP_004949.1:p.Leu1746Pro NC_000001.11:11134359:A:G p.(Leu1746Pro) NC_000001.11:11134359:A:G p.(Leu1746Pro) NC_000001.11:11134359:A:G Identity +NM_004525.3:c.5867T>G NP_004516.2:p.Leu1956Arg NC_000002.12:169213829:A:C p.(Leu1956Arg) NC_000002.12:169213829:A:C p.(Leu1956Arg) NC_000002.12:169213829:A:C Identity +NM_001195573.1:c.1999C>A NP_001182502.1:p.Leu667Ile NC_000014.9:95113132:G:T p.(Leu667Ile) NC_000014.9:95113132:G:T p.(Leu667Ile) NC_000014.9:95113132:G:T Identity +NM_001199427.2:c.35C>T NP_001186356.1:p.Ala12Val NC_000014.9:102870235:C:T p.(Ala12Val) NC_000014.9:102870235:C:T p.(Ala12Val) NC_000014.9:102870235:C:T Identity +NM_003816.3:c.29G>A NP_003807.1:p.Gly10Glu NC_000008.11:38997091:G:A p.(Gly10Glu) NC_000008.11:38997091:G:A p.(Gly10Glu) NC_000008.11:38997091:G:A Identity +NM_017617.5:c.748A>T NP_060087.3:p.Thr250Ser NC_000009.12:136519559:T:A p.(Thr250Ser) NC_000009.12:136519559:T:A p.(Thr250Ser) NC_000009.12:136519559:T:A Identity +NM_000540.3:c.10777G>A NP_000531.2:p.Val3593Met NC_000019.10:38527736:G:A p.(Val3593Met) NC_000019.10:38527736:G:A p.(Val3593Met) NC_000019.10:38527736:G:A Identity +NM_000051.4:c.4143T>G NP_000042.3:p.Phe1381Leu NC_000011.10:108289009:T:G p.(Phe1381Leu) NC_000011.10:108289009:T:G p.(Phe1381Leu) NC_000011.10:108289009:T:G Identity +NM_000038.6:c.4316C>T NP_000029.2:p.Pro1439Leu NC_000005.10:112839909:C:T p.(Pro1439Leu) NC_000005.10:112839909:C:T p.(Pro1439Leu) NC_000005.10:112839909:C:T Identity +NM_001166136.2:c.3511G>T NP_001159608.1:p.Glu1171Ter NC_000004.12:5563023:C:A p.(Glu1171Ter) NC_000004.12:5563023:C:A p.(Glu1171Ter) NC_000004.12:5563023:C:A Identity +NM_001163022.3:c.1120A>T NP_001156494.1:p.Asn374Tyr NC_000020.11:21205566:A:T p.(Asn374Tyr) NC_000020.11:21205566:A:T p.(Asn374Tyr) NC_000020.11:21205566:A:T Identity +NM_001322033.2:c.2686T>C NP_001308962.1:p.Phe896Leu NC_000019.10:38729396:T:C p.(Phe896Leu) NC_000019.10:38729396:T:C p.(Phe896Leu) NC_000019.10:38729396:T:C Identity +NM_004304.5:c.464T>A NP_004295.2:p.Val155Asp NC_000002.12:29920195:A:T p.(Val155Asp) NC_000002.12:29920195:A:T p.(Val155Asp) NC_000002.12:29920195:A:T Identity +NM_002838.5:c.2188G>T NP_002829.3:p.Asp730Tyr NC_000001.11:198734335:G:T p.(Asp730Tyr) NC_000001.11:198734335:G:T p.(Asp730Tyr) NC_000001.11:198734335:G:T Identity +NM_001006658.3:c.1915A>C NP_001006659.1:p.Ser639Arg NC_000001.11:207473115:A:C p.(Ser639Arg) NC_000001.11:207473115:A:C p.(Ser639Arg) NC_000001.11:207473115:A:C Identity +NM_001008844.3:c.284A>G NP_001008844.1:p.Tyr95Cys NC_000006.12:7558125:A:G p.(Tyr95Cys) NC_000006.12:7558125:A:G p.(Tyr95Cys) NC_000006.12:7558125:A:G Identity +NM_001374425.1:c.105C>G NP_001361354.1:p.Ser35Arg NC_000001.11:2412397:G:C p.(Ser35Arg) NC_000001.11:2412397:G:C p.(Ser35Arg) NC_000001.11:2412397:G:C Identity +NM_001010895.4:c.1931G>A NP_001010895.2:p.Arg644Gln NC_000009.12:95955996:G:A p.(Arg644Gln) NC_000009.12:95955996:G:A p.(Arg644Gln) NC_000009.12:95955996:G:A Identity +NM_001385678.1:c.250C>T NP_001372607.1:p.Arg84Cys NC_000019.10:4818085:G:A p.(Arg84Cys) NC_000019.10:4818085:G:A p.(Arg84Cys) NC_000019.10:4818085:G:A Identity +NM_000593.6:c.782A>C NP_000584.3:p.Gln261Pro NC_000006.12:32852170:T:G p.(Gln261Pro) NC_000006.12:32852170:T:G p.(Gln261Pro) NC_000006.12:32852170:T:G Identity +NM_001277961.3:c.295C>T NP_001264890.1:p.His99Tyr NC_000011.10:4023896:C:T p.(His99Tyr) NC_000011.10:4023896:C:T p.(His99Tyr) NC_000011.10:4023896:C:T Identity +NM_001282225.2:c.612G>T NP_001269154.1:p.Trp204Cys NC_000022.11:17203703:C:A p.(Trp204Cys) NC_000022.11:17203703:C:A p.(Trp204Cys) NC_000022.11:17203703:C:A Identity +NM_001160227.2:c.3225G>T NP_001153699.1:p.Met1075Ile NC_000015.10:44610905:C:A p.(Met1075Ile) NC_000015.10:44610905:C:A p.(Met1075Ile) NC_000015.10:44610905:C:A Identity +NM_206933.4:c.13514A>G NP_996816.3:p.Tyr4505Cys NC_000001.11:215674396:T:C p.(Tyr4505Cys) NC_000001.11:215674396:T:C p.(Tyr4505Cys) NC_000001.11:215674396:T:C Identity +NM_152393.4:c.182G>A NP_689606.2:p.Arg61His NC_000003.12:42685799:G:A p.(Arg61His) NC_000003.12:42685799:G:A p.(Arg61His) NC_000003.12:42685799:G:A Identity +NM_001145293.2:c.580G>A NP_001138765.1:p.Ala194Thr NC_000003.12:25751175:C:T p.(Ala194Thr) NC_000003.12:25751175:C:T p.(Ala194Thr) NC_000003.12:25751175:C:T Identity +NM_020361.5:c.1027A>G NP_065094.3:p.Asn343Asp NC_000008.11:67434051:T:C p.(Asn343Asp) NC_000008.11:67434051:T:C p.(Asn343Asp) NC_000008.11:67434051:T:C Identity +NM_000077.5:c.175G>A NP_000068.1:p.Val59Met NC_000009.12:21971183:C:T p.(Val59Met) NC_000009.12:21971183:C:T p.(Val59Met) NC_000009.12:21971183:C:T Identity +NM_001080114.2:c.692T>G NP_001073583.1:p.Leu231Arg NC_000010.11:86692038:T:G p.(Leu231Arg) NC_000010.11:86692038:T:G p.(Leu231Arg) NC_000010.11:86692038:T:G Identity +NM_000449.4:c.1142T>C NP_000440.1:p.Ile381Thr NC_000001.11:151342894:A:G p.(Ile381Thr) NC_000001.11:151342894:A:G p.(Ile381Thr) NC_000001.11:151342894:A:G Identity +NM_002076.4:c.1147G>A NP_002067.1:p.Gly383Ser NC_000012.12:64729008:C:T p.(Gly383Ser) NC_000012.12:64729008:C:T p.(Gly383Ser) NC_000012.12:64729008:C:T Identity +NM_000663.5:c.604G>T NP_000654.2:p.Ala202Ser NC_000016.10:8768192:G:T p.(Ala202Ser) NC_000016.10:8768192:G:T p.(Ala202Ser) NC_000016.10:8768192:G:T Identity +NM_001256063.2:c.40T>A NP_001242992.1:p.Ser14Thr NC_000012.12:40908471:T:A p.(Ser14Thr) NC_000012.12:40908471:T:A p.(Ser14Thr) NC_000012.12:40908471:T:A Identity +NM_001195573.1:c.4728G>T NP_001182502.1:p.Glu1576Asp NC_000014.9:95096191:C:A p.(Glu1576Asp) NC_000014.9:95096191:C:A p.(Glu1576Asp) NC_000014.9:95096191:C:A Identity +NM_032043.3:c.758A>G NP_114432.2:p.His253Arg NC_000017.11:61808626:T:C p.(His253Arg) NC_000017.11:61808626:T:C p.(His253Arg) NC_000017.11:61808626:T:C Identity +NM_001843.4:c.2495T>G NP_001834.2:p.Val832Gly NC_000012.12:41020411:T:G p.(Val832Gly) NC_000012.12:41020411:T:G p.(Val832Gly) NC_000012.12:41020411:T:G Identity +NM_000445.5:c.6141G>C NP_000436.2:p.Glu2047Asp NC_000008.11:143923868:C:G p.(Glu2047Asp) NC_000008.11:143923868:C:G p.(Glu2047Asp) NC_000008.11:143923868:C:G Identity +NM_001278237.2:c.214dup NP_001265166.1:p.Val72fs NC_000012.12:63808752:GG:GGG p.(Val72GlyfsTer12) NC_000012.12:63808752:GG:GGG p.(Val72GlyfsTer12) ERR:SPDI Analogous +NM_022114.4:c.431T>A NP_071397.3:p.Ile144Asn NC_000001.11:3244129:T:A p.(Ile144Asn) NC_000001.11:3244129:T:A p.(Ile144Asn) NC_000001.11:3244129:T:A Identity +NM_001291593.2:c.305A>G NP_001278522.1:p.Gln102Arg NC_000001.11:5905402:T:C p.(Gln102Arg) NC_000001.11:5905402:T:C p.(Gln102Arg) NC_000001.11:5905402:T:C Identity +NM_014334.4:c.368T>A NP_055149.3:p.Leu123His NC_000009.12:109147144:A:T p.(Leu123His) NC_000009.12:109147144:A:T p.(Leu123His) NC_000009.12:109147144:A:T Identity +NM_001199917.2:c.245A>C NP_001186846.1:p.Lys82Thr NC_000006.12:83190851:T:G p.(Lys82Thr) NC_000006.12:83190851:T:G p.(Lys82Thr) NC_000006.12:83190851:T:G Identity +NM_000252.3:c.421G>C NP_000243.1:p.Ala141Pro NC_000023.11:150619115:G:C p.(Ala141Pro) NC_000023.11:150619115:G:C p.(Ala141Pro) NC_000023.11:150619115:G:C Identity +NM_001190458.2:c.1583A>G NP_001177387.1:p.Asn528Ser NC_000009.12:368124:A:G p.(Asn528Ser) NC_000009.12:368124:A:G p.(Asn528Ser) NC_000009.12:368124:A:G Identity +NM_001972.4:c.644T>A NP_001963.1:p.Ile215Asn NC_000019.10:856003:T:A p.(Ile215Asn) NC_000019.10:856003:T:A p.(Ile215Asn) NC_000019.10:856003:T:A Identity +NM_001282424.3:c.2149C>T NP_001269353.2:p.Pro717Ser NC_000012.12:8863912:C:T p.(Pro717Ser) NC_000012.12:8863912:C:T p.(Pro717Ser) NC_000012.12:8863912:C:T Identity +NM_001324281.3:c.1582G>A NP_001311210.1:p.Glu528Lys NC_000007.14:2930062:C:T p.(Glu528Lys) NC_000007.14:2930062:C:T p.(Glu528Lys) NC_000007.14:2930062:C:T Identity +NM_001195263.2:c.58G>T NP_001182192.1:p.Gly20Cys NC_000010.11:101030161:C:A p.(Gly20Cys) NC_000010.11:101030161:C:A p.(Gly20Cys) NC_000010.11:101030161:C:A Identity +NM_001374871.1:c.913G>T NP_001361800.1:p.Gly305Cys NC_000016.10:69335020:C:A p.(Gly305Cys) NC_000016.10:69335020:C:A p.(Gly305Cys) NC_000016.10:69335020:C:A Identity +NM_001286130.2:c.1681C>T NP_001273059.1:p.Arg561Trp NC_000016.10:57920488:G:A p.(Arg561Trp) NC_000016.10:57920488:G:A p.(Arg561Trp) NC_000016.10:57920488:G:A Identity +NM_004958.4:c.1029G>A NP_004949.1:p.Met343Ile NC_000001.11:11247905:C:T p.(Met343Ile) NC_000001.11:11247905:C:T p.(Met343Ile) NC_000001.11:11247905:C:T Identity +NM_002386.4:c.803C>T NP_002377.4:p.Pro268Leu NC_000016.10:89920060:C:T p.(Pro268Leu) NC_000016.10:89920060:C:T p.(Pro268Leu) NC_000016.10:89920060:C:T Identity +NM_001135040.3:c.3626C>T NP_001128512.1:p.Ala1209Val NC_000002.12:74361634:G:A p.(Ala1209Val) NC_000002.12:74361634:G:A p.(Ala1209Val) NC_000002.12:74361634:G:A Identity +NM_001252020.2:c.4676G>A NP_001238949.1:p.Arg1559His NC_000015.10:31002074:C:T p.(Arg1559His) NC_000015.10:31002074:C:T p.(Arg1559His) NC_000015.10:31002074:C:T Identity +NM_002334.4:c.3641A>G NP_002325.2:p.Asn1214Ser NC_000011.10:46875861:T:C p.(Asn1214Ser) NC_000011.10:46875861:T:C p.(Asn1214Ser) NC_000011.10:46875861:T:C Identity +NM_000253.4:c.1258G>T NP_000244.2:p.Gly420Cys NC_000004.12:99601627:G:T p.(Gly420Cys) NC_000004.12:99601627:G:T p.(Gly420Cys) NC_000004.12:99601627:G:T Identity +NM_001281303.2:c.1259T>G NP_001268232.1:p.Met420Arg NC_000009.12:92034878:A:C p.(Met420Arg) NC_000009.12:92034878:A:C p.(Met420Arg) NC_000009.12:92034878:A:C Identity +NM_019066.5:c.1846G>A NP_061939.3:p.Ala616Thr NC_000015.10:23645896:C:T p.(Ala616Thr) NC_000015.10:23645896:C:T p.(Ala616Thr) NC_000015.10:23645896:C:T Identity +NM_004304.5:c.1150C>T NP_004295.2:p.His384Tyr NC_000002.12:29531918:G:A p.(His384Tyr) NC_000002.12:29531918:G:A p.(His384Tyr) NC_000002.12:29531918:G:A Identity +NM_006231.4:c.3762C>G NP_006222.2:p.Ile1254Met NC_000012.12:132649709:G:C p.(Ile1254Met) NC_000012.12:132649709:G:C p.(Ile1254Met) NC_000012.12:132649709:G:C Identity +NM_001177428.1:c.1337C>T NP_001170899.1:p.Pro446Leu NC_000012.12:109794341:G:A p.(Pro446Leu) NC_000012.12:109794341:G:A p.(Pro446Leu) NC_000012.12:109794341:G:A Identity +NM_000360.4:c.931A>G NP_000351.2:p.Thr311Ala NC_000011.10:2166678:T:C p.(Thr311Ala) NC_000011.10:2166678:T:C p.(Thr311Ala) NC_000011.10:2166678:T:C Identity +NM_001256269.2:c.526T>A NP_001243198.1:p.Ser176Thr NC_000016.10:29799154:T:A p.(Ser176Thr) NC_000016.10:29799154:T:A p.(Ser176Thr) NC_000016.10:29799154:T:A Identity +NM_004260.4:c.2023C>T NP_004251.4:p.His675Tyr NC_000008.11:144513962:G:A p.(His675Tyr) NC_000008.11:144513962:G:A p.(His675Tyr) NC_000008.11:144513962:G:A Identity +NM_000334.4:c.365G>T NP_000325.4:p.Arg122Leu NC_000017.11:63972378:C:A p.(Arg122Leu) NC_000017.11:63972378:C:A p.(Arg122Leu) NC_000017.11:63972378:C:A Identity +NM_001277115.2:c.9773A>T NP_001264044.1:p.Tyr3258Phe NC_000007.14:21787431:A:T p.(Tyr3258Phe) NC_000007.14:21787431:A:T p.(Tyr3258Phe) NC_000007.14:21787431:A:T Identity +NM_001365536.1:c.2561T>C NP_001352465.1:p.Met854Thr NC_000002.12:166277295:A:G p.(Met854Thr) NC_000002.12:166277295:A:G p.(Met854Thr) NC_000002.12:166277295:A:G Identity +NM_000059.4:c.2973C>G NP_000050.3:p.Asn991Lys NC_000013.11:32337327:C:G p.(Asn991Lys) NC_000013.11:32337327:C:G p.(Asn991Lys) NC_000013.11:32337327:C:G Identity +NM_001351527.2:c.2471A>G NP_001338456.1:p.Tyr824Cys NC_000009.12:132329126:T:C p.(Tyr824Cys) NC_000009.12:132329126:T:C p.(Tyr824Cys) NC_000009.12:132329126:T:C Identity +NM_001005505.3:c.2881C>G NP_001005505.1:p.Leu961Val NC_000003.12:50365843:G:C p.(Leu961Val) NC_000003.12:50365843:G:C p.(Leu961Val) NC_000003.12:50365843:G:C Identity +NM_001368066.1:c.803C>T NP_001354995.1:p.Pro268Leu NC_000010.11:86706577:C:T p.(Pro268Leu) NC_000010.11:86706577:C:T p.(Pro268Leu) NC_000010.11:86706577:C:T Identity +NM_000057.4:c.2853G>T NP_000048.1:p.Met951Ile NC_000015.10:90790677:G:T p.(Met951Ile) NC_000015.10:90790677:G:T p.(Met951Ile) NC_000015.10:90790677:G:T Identity +NM_001135242.2:c.731C>T NP_001128714.1:p.Pro244Leu NC_000008.11:133248738:G:A p.(Pro244Leu) NC_000008.11:133248738:G:A p.(Pro244Leu) NC_000008.11:133248738:G:A Identity +NM_025114.4:c.2992T>G NP_079390.3:p.Cys998Gly NC_000012.12:88096998:A:C p.(Cys998Gly) NC_000012.12:88096998:A:C p.(Cys998Gly) NC_000012.12:88096998:A:C Identity +NM_001282368.2:c.1916A>C NP_001269297.1:p.Asp639Ala NC_000006.12:75931045:T:G p.(Asp639Ala) NC_000006.12:75931045:T:G p.(Asp639Ala) NC_000006.12:75931045:T:G Identity +NM_001164317.2:c.5711A>G NP_001157789.1:p.Asp1904Gly NC_000003.12:58146882:A:G p.(Asp1904Gly) NC_000003.12:58146882:A:G p.(Asp1904Gly) NC_000003.12:58146882:A:G Identity +NM_138694.4:c.494A>C NP_619639.3:p.Glu165Ala NC_000006.12:52073495:T:G p.(Glu165Ala) NC_000006.12:52073495:T:G p.(Glu165Ala) NC_000006.12:52073495:T:G Identity +NM_001253815.2:c.371C>T NP_001240744.1:p.Ala124Val NC_000008.11:144359862:C:T p.(Ala124Val) NC_000008.11:144359862:C:T p.(Ala124Val) NC_000008.11:144359862:C:T Identity +NM_001098802.3:c.1574T>C NP_001092272.1:p.Ile525Thr NC_000009.12:78264261:T:C p.(Ile525Thr) NC_000009.12:78264261:T:C p.(Ile525Thr) NC_000009.12:78264261:T:C Identity +NM_001354904.2:c.7984_7985del NP_001341833.1:p.Pro2662fs NC_000005.10:112843954:CCC:C p.(Pro2662LysfsTer3) NC_000005.10:112843954:CCC:C p.(Pro2662LysfsTer3) NC_000005.10:112843955:CC: Analogous +NM_001040142.2:c.5604G>C NP_001035232.1:p.Glu1868Asp NC_000002.12:165389409:G:C p.(Glu1868Asp) NC_000002.12:165389409:G:C p.(Glu1868Asp) NC_000002.12:165389409:G:C Identity +NM_001136029.4:c.3241G>A NP_001129501.1:p.Gly1081Arg NC_000022.11:31861370:G:A p.(Gly1081Arg) NC_000022.11:31861370:G:A p.(Gly1081Arg) NC_000022.11:31861370:G:A Identity +NM_001036.6:c.9811C>T NP_001027.3:p.Arg3271Cys NC_000015.10:33788438:C:T p.(Arg3271Cys) NC_000015.10:33788438:C:T p.(Arg3271Cys) NC_000015.10:33788438:C:T Identity +NM_001144769.5:c.3470G>C NP_001138241.1:p.Trp1157Ser NC_000006.12:56634183:C:G p.(Trp1157Ser) NC_000006.12:56634183:C:G p.(Trp1157Ser) NC_000006.12:56634183:C:G Identity +NM_001277961.3:c.1928CTC[1] NP_001264890.1:p.Pro644del NC_000011.10:4091348:CCTCCTC:CCTC p.(Pro644del) NC_000011.10:4091349:C:CTC ERR:Parse ERR:Parse Identity +NM_006361.6:c.310G>A NP_006352.2:p.Ala104Thr NC_000017.11:48728283:C:T p.(Ala104Thr) NC_000017.11:48728283:C:T p.(Ala104Thr) NC_000017.11:48728283:C:T Identity +NM_000152.5:c.2122C>G NP_000143.2:p.His708Asp NC_000017.11:80113298:C:G p.(His708Asp) NC_000017.11:80113298:C:G p.(His708Asp) NC_000017.11:80113298:C:G Identity +NM_005732.4:c.1025A>C NP_005723.2:p.Glu342Ala NC_000005.10:132588062:A:C p.(Glu342Ala) NC_000005.10:132588062:A:C p.(Glu342Ala) NC_000005.10:132588062:A:C Identity +NM_032119.4:c.7148G>A NP_115495.3:p.Gly2383Asp NC_000005.10:90693903:G:A p.(Gly2383Asp) NC_000005.10:90693903:G:A p.(Gly2383Asp) NC_000005.10:90693903:G:A Identity +NM_006343.3:c.1082G>A NP_006334.2:p.Cys361Tyr NC_000002.12:111975409:G:A p.(Cys361Tyr) NC_000002.12:111975409:G:A p.(Cys361Tyr) NC_000002.12:111975409:G:A Identity +NM_001040142.2:c.2219A>G NP_001035232.1:p.Asp740Gly NC_000002.12:165331398:A:G p.(Asp740Gly) NC_000002.12:165331398:A:G p.(Asp740Gly) NC_000002.12:165331398:A:G Identity +NM_020461.4:c.5154C>G NP_065194.3:p.His1718Gln NC_000022.11:50218202:G:C p.(His1718Gln) NC_000022.11:50218202:G:C p.(His1718Gln) NC_000022.11:50218202:G:C Identity +NM_012186.3:c.672C>G NP_036318.1:p.Asn224Lys NC_000001.11:47416986:C:G p.(Asn224Lys) NC_000001.11:47416986:C:G p.(Asn224Lys) NC_000001.11:47416986:C:G Identity +NM_000179.3:c.3134A>C NP_000170.1:p.Lys1045Thr NC_000002.12:47801116:A:C p.(Lys1045Thr) NC_000002.12:47801116:A:C p.(Lys1045Thr) NC_000002.12:47801116:A:C Identity +NM_001277126.2:c.1895A>G NP_001264055.1:p.His632Arg NC_000019.10:53809763:T:C p.(His632Arg) NC_000019.10:53809763:T:C p.(His632Arg) NC_000019.10:53809763:T:C Identity +NM_173354.5:c.956G>A NP_775490.2:p.Arg319Gln NC_000021.9:43420249:C:T p.(Arg319Gln) NC_000021.9:43420249:C:T p.(Arg319Gln) NC_000021.9:43420249:C:T Identity +NM_001318194.2:c.89C>T NP_001305123.1:p.Ala30Val NC_000016.10:2044735:G:A p.(Ala30Val) NC_000016.10:2044735:G:A p.(Ala30Val) NC_000016.10:2044735:G:A Identity +NM_198525.3:c.1841G>A NP_940927.2:p.Arg614Lys NC_000015.10:89645973:C:T p.(Arg614Lys) NC_000015.10:89645973:C:T p.(Arg614Lys) NC_000015.10:89645973:C:T Identity +NM_001365999.1:c.5429G>A NP_001352928.1:p.Gly1810Asp NC_000001.11:43432425:G:A p.(Gly1810Asp) NC_000001.11:43432425:G:A p.(Gly1810Asp) NC_000001.11:43432425:G:A Identity +NM_001171933.1:c.3278A>C NP_001165404.1:p.Lys1093Thr NC_000010.11:71815210:A:C p.(Lys1093Thr) NC_000010.11:71815210:A:C p.(Lys1093Thr) NC_000010.11:71815210:A:C Identity +NM_001040633.2:c.160A>G NP_001035723.1:p.Ser54Gly NC_000007.14:151781325:T:C p.(Ser54Gly) NC_000007.14:151781325:T:C p.(Ser54Gly) NC_000007.14:151781325:T:C Identity +NM_001040633.2:c.1328A>G NP_001035723.1:p.Tyr443Cys NC_000007.14:151564201:T:C p.(Tyr443Cys) NC_000007.14:151564201:T:C p.(Tyr443Cys) NC_000007.14:151564201:T:C Identity +NM_001282424.3:c.1342C>T NP_001269353.2:p.Pro448Ser NC_000012.12:8855558:C:T p.(Pro448Ser) NC_000012.12:8855558:C:T p.(Pro448Ser) NC_000012.12:8855558:C:T Identity +NM_001352773.2:c.1346A>T NP_001339702.1:p.Asp449Val NC_000017.11:41763133:T:A p.(Asp449Val) NC_000017.11:41763133:T:A p.(Asp449Val) NC_000017.11:41763133:T:A Identity +NM_000445.5:c.1567G>A NP_000436.2:p.Val523Met NC_000008.11:143933043:C:T p.(Val523Met) NC_000008.11:143933043:C:T p.(Val523Met) NC_000008.11:143933043:C:T Identity +NM_000109.4:c.6214C>A NP_000100.3:p.Gln2072Lys NC_000023.11:32287580:G:T p.(Gln2072Lys) NC_000023.11:32287580:G:T p.(Gln2072Lys) NC_000023.11:32287580:G:T Identity +NM_000334.4:c.5218C>T NP_000325.4:p.Arg1740Trp NC_000017.11:63941063:G:A p.(Arg1740Trp) NC_000017.11:63941063:G:A p.(Arg1740Trp) NC_000017.11:63941063:G:A Identity +NM_000057.4:c.434C>A NP_000048.1:p.Pro145Gln NC_000015.10:90749701:C:A p.(Pro145Gln) NC_000015.10:90749701:C:A p.(Pro145Gln) NC_000015.10:90749701:C:A Identity +NM_001035.3:c.887G>A NP_001026.2:p.Arg296Gln NC_000001.11:237423129:G:A p.(Arg296Gln) NC_000001.11:237423129:G:A p.(Arg296Gln) NC_000001.11:237423129:G:A Identity +NM_000719.7:c.1786G>A NP_000710.5:p.Val596Met NC_000012.12:2567684:G:A p.(Val596Met) NC_000012.12:2567684:G:A p.(Val596Met) NC_000012.12:2567684:G:A Identity +NM_000018.4:c.977T>C NP_000009.1:p.Val326Ala NC_000017.11:7222764:T:C p.(Val326Ala) NC_000017.11:7222764:T:C p.(Val326Ala) NC_000017.11:7222764:T:C Identity +NM_001352385.2:c.370G>T NP_001339314.1:p.Asp124Tyr NC_000020.11:44987140:G:T p.(Asp124Tyr) NC_000020.11:44987140:G:T p.(Asp124Tyr) NC_000020.11:44987140:G:T Identity +NM_000251.3:c.2266A>C NP_000242.1:p.Thr756Pro NC_000002.12:47478326:A:C p.(Thr756Pro) NC_000002.12:47478326:A:C p.(Thr756Pro) NC_000002.12:47478326:A:C Identity +NM_001345962.2:c.22C>A NP_001332891.1:p.Leu8Ile NC_000004.12:83470329:G:T p.(Leu8Ile) NC_000004.12:83470329:G:T p.(Leu8Ile) NC_000004.12:83470329:G:T Identity +NM_001127487.2:c.6511G>A NP_001120959.1:p.Glu2171Lys NC_000007.14:128854098:G:A p.(Glu2171Lys) NC_000007.14:128854098:G:A p.(Glu2171Lys) NC_000007.14:128854098:G:A Identity +NM_004281.4:c.1664C>A NP_004272.2:p.Thr555Lys NC_000010.11:119677217:C:A p.(Thr555Lys) NC_000010.11:119677217:C:A p.(Thr555Lys) NC_000010.11:119677217:C:A Identity +NM_000435.3:c.2053C>A NP_000426.2:p.Pro685Thr NC_000019.10:15185577:G:T p.(Pro685Thr) NC_000019.10:15185577:G:T p.(Pro685Thr) NC_000019.10:15185577:G:T Identity +NM_000135.4:c.3373G>A NP_000126.2:p.Ala1125Thr NC_000016.10:89746865:C:T p.(Ala1125Thr) NC_000016.10:89746865:C:T p.(Ala1125Thr) NC_000016.10:89746865:C:T Identity +NM_001377260.1:c.352G>T NP_001364189.1:p.Ala118Ser NC_000001.11:231421536:C:A p.(Ala118Ser) NC_000001.11:231421536:C:A p.(Ala118Ser) NC_000001.11:231421536:C:A Identity +NM_001366385.1:c.2945T>A NP_001353314.1:p.Leu982His NC_000017.11:80208274:T:A p.(Leu982His) NC_000017.11:80208274:T:A p.(Leu982His) NC_000017.11:80208274:T:A Identity +NM_000245.4:c.2267G>A NP_000236.2:p.Gly756Asp NC_000007.14:116759392:G:A p.(Gly756Asp) NC_000007.14:116759392:G:A p.(Gly756Asp) NC_000007.14:116759392:G:A Identity +NM_000038.6:c.7672C>T NP_000029.2:p.Leu2558Phe NC_000005.10:112843265:C:T p.(Leu2558Phe) NC_000005.10:112843265:C:T p.(Leu2558Phe) NC_000005.10:112843265:C:T Identity +NM_001386339.1:c.5009C>G NP_001373268.1:p.Ala1670Gly NC_000011.10:9789127:G:C p.(Ala1670Gly) NC_000011.10:9789127:G:C p.(Ala1670Gly) NC_000011.10:9789127:G:C Identity +NM_001291902.2:c.1936A>G NP_001278831.1:p.Ile646Val NC_000011.10:68429615:A:G p.(Ile646Val) NC_000011.10:68429615:A:G p.(Ile646Val) NC_000011.10:68429615:A:G Identity +NM_001164097.2:c.3715C>T NP_001157569.1:p.Pro1239Ser NC_000005.10:83539678:C:T p.(Pro1239Ser) NC_000005.10:83539678:C:T p.(Pro1239Ser) NC_000005.10:83539678:C:T Identity +NM_006939.4:c.2980C>G NP_008870.2:p.Pro994Ala NC_000014.9:50134217:G:C p.(Pro994Ala) NC_000014.9:50134217:G:C p.(Pro994Ala) NC_000014.9:50134217:G:C Identity +NM_001253815.2:c.1208C>T NP_001240744.1:p.Pro403Leu NC_000008.11:144360884:C:T p.(Pro403Leu) NC_000008.11:144360884:C:T p.(Pro403Leu) NC_000008.11:144360884:C:T Identity +NM_002335.4:c.428A>C NP_002326.2:p.Lys143Thr NC_000011.10:68348182:A:C p.(Lys143Thr) NC_000011.10:68348182:A:C p.(Lys143Thr) NC_000011.10:68348182:A:C Identity +NM_001126132.3:c.207G>T NP_001119604.1:p.Lys69Asn NC_000019.10:55141287:C:A p.(Lys69Asn) NC_000019.10:55141287:C:A p.(Lys69Asn) NC_000019.10:55141287:C:A Identity +NM_001306129.2:c.2429C>T NP_001293058.2:p.Ala810Val NC_000002.12:215408196:G:A p.(Ala810Val) NC_000002.12:215408196:G:A p.(Ala810Val) NC_000002.12:215408196:G:A Identity +NM_001351273.1:c.1460G>A NP_001338202.1:p.Arg487His NC_000019.10:1460798:G:A p.(Arg487His) NC_000019.10:1460798:G:A p.(Arg487His) NC_000019.10:1460798:G:A Identity +NM_001346083.2:c.3047G>A NP_001333012.1:p.Arg1016His NC_000001.11:205073688:G:A p.(Arg1016His) NC_000001.11:205073688:G:A p.(Arg1016His) NC_000001.11:205073688:G:A Identity +NM_001354927.2:c.130C>T NP_001341856.1:p.Arg44Trp NC_000009.12:35067927:G:A p.(Arg44Trp) NC_000009.12:35067927:G:A p.(Arg44Trp) NC_000009.12:35067927:G:A Identity +NM_004369.4:c.5642G>A NP_004360.2:p.Arg1881His NC_000002.12:237365893:C:T p.(Arg1881His) NC_000002.12:237365893:C:T p.(Arg1881His) NC_000002.12:237365893:C:T Identity +NM_004370.6:c.1620T>A NP_004361.3:p.Asn540Lys NC_000006.12:75183320:A:T p.(Asn540Lys) NC_000006.12:75183320:A:T p.(Asn540Lys) NC_000006.12:75183320:A:T Identity +NM_015164.4:c.745C>T NP_055979.2:p.Arg249Cys NC_000001.11:15725348:C:T p.(Arg249Cys) NC_000001.11:15725348:C:T p.(Arg249Cys) NC_000001.11:15725348:C:T Identity +NM_000370.3:c.464A>C NP_000361.1:p.Lys155Thr NC_000008.11:63065991:T:G p.(Lys155Thr) NC_000008.11:63065991:T:G p.(Lys155Thr) NC_000008.11:63065991:T:G Identity +NM_000244.4:c.1210A>G NP_000235.3:p.Ser404Gly NC_000011.10:64805188:T:C p.(Ser404Gly) NC_000011.10:64805188:T:C p.(Ser404Gly) NC_000011.10:64805188:T:C Identity +NM_001318219.1:c.2087G>A NP_001305148.1:p.Arg696His NC_000020.11:35501928:G:A p.(Arg696His) NC_000020.11:35501928:G:A p.(Arg696His) NC_000020.11:35501928:G:A Identity +NM_032119.4:c.4040C>T NP_115495.3:p.Ser1347Phe NC_000005.10:90653613:C:T p.(Ser1347Phe) NC_000005.10:90653613:C:T p.(Ser1347Phe) NC_000005.10:90653613:C:T Identity +NM_152468.5:c.1568G>A NP_689681.2:p.Arg523Gln NC_000017.11:78138382:G:A p.(Arg523Gln) NC_000017.11:78138382:G:A p.(Arg523Gln) NC_000017.11:78138382:G:A Identity +NM_004329.3:c.705G>C NP_004320.2:p.Gln235His NC_000010.11:86917162:G:C p.(Gln235His) NC_000010.11:86917162:G:C p.(Gln235His) NC_000010.11:86917162:G:C Identity +NM_001105206.3:c.1525A>C NP_001098676.2:p.Thr509Pro NC_000006.12:112172636:T:G p.(Thr509Pro) NC_000006.12:112172636:T:G p.(Thr509Pro) NC_000006.12:112172636:T:G Identity +NM_000059.4:c.962A>C NP_000050.3:p.Gln321Pro NC_000013.11:32332439:A:C p.(Gln321Pro) NC_000013.11:32332439:A:C p.(Gln321Pro) NC_000013.11:32332439:A:C Identity +NM_000350.3:c.4402C>G NP_000341.2:p.Pro1468Ala NC_000001.11:94029581:G:C p.(Pro1468Ala) NC_000001.11:94029581:G:C p.(Pro1468Ala) NC_000001.11:94029581:G:C Identity +NM_001282948.2:c.4663A>C NP_001269877.1:p.Ile1555Leu NC_000010.11:63200542:T:G p.(Ile1555Leu) NC_000010.11:63200542:T:G p.(Ile1555Leu) NC_000010.11:63200542:T:G Identity +NM_006361.6:c.236C>T NP_006352.2:p.Pro79Leu NC_000017.11:48728357:G:A p.(Pro79Leu) NC_000017.11:48728357:G:A p.(Pro79Leu) NC_000017.11:48728357:G:A Identity +NM_024529.5:c.1274A>G NP_078805.3:p.Tyr425Cys NC_000001.11:193233111:A:G p.(Tyr425Cys) NC_000001.11:193233111:A:G p.(Tyr425Cys) NC_000001.11:193233111:A:G Identity +NM_001366624.2:c.151C>A NP_001353553.1:p.Arg51Ser NC_000013.11:76992248:C:A p.(Arg51Ser) NC_000013.11:76992248:C:A p.(Arg51Ser) NC_000013.11:76992248:C:A Identity +NM_001363813.1:c.1574C>T NP_001350742.1:p.Pro525Leu NC_000017.11:65537461:G:A p.(Pro525Leu) NC_000017.11:65537461:G:A p.(Pro525Leu) NC_000017.11:65537461:G:A Identity +NM_002296.4:c.928G>A NP_002287.2:p.Gly310Arg NC_000001.11:225412609:C:T p.(Gly310Arg) NC_000001.11:225412609:C:T p.(Gly310Arg) NC_000001.11:225412609:C:T Identity +NM_000426.4:c.2549G>A NP_000417.3:p.Gly850Asp NC_000006.12:129287857:G:A p.(Gly850Asp) NC_000006.12:129287857:G:A p.(Gly850Asp) NC_000006.12:129287857:G:A Identity +NM_001353229.2:c.778A>T NP_001340158.1:p.Thr260Ser NC_000017.11:17222555:T:A p.(Thr260Ser) NC_000017.11:17222555:T:A p.(Thr260Ser) NC_000017.11:17222555:T:A Identity +NM_032043.3:c.3642A>C NP_114432.2:p.Lys1214Asn NC_000017.11:61683403:T:G p.(Lys1214Asn) NC_000017.11:61683403:T:G p.(Lys1214Asn) NC_000017.11:61683403:T:G Identity +NM_001113178.3:c.2110G>C NP_001106649.1:p.Gly704Arg NC_000016.10:69691937:G:C p.(Gly704Arg) NC_000016.10:69691937:G:C p.(Gly704Arg) NC_000016.10:69691937:G:C Identity +NM_001308133.2:c.1873A>C NP_001295062.1:p.Lys625Gln NC_000014.9:45167111:A:C p.(Lys625Gln) NC_000014.9:45167111:A:C p.(Lys625Gln) NC_000014.9:45167111:A:C Identity +NM_001018041.2:c.511C>T NP_001018051.1:p.Arg171Cys NC_000006.12:145635451:G:A p.(Arg171Cys) NC_000006.12:145635451:G:A p.(Arg171Cys) NC_000006.12:145635451:G:A Identity +NM_001172420.2:c.1492G>T NP_001165891.1:p.Glu498Ter NC_000006.12:52479695:G:T p.(Glu498Ter) NC_000006.12:52479695:G:T p.(Glu498Ter) NC_000006.12:52479695:G:T Identity +NM_001164665.2:c.3707C>T NP_001158137.1:p.Pro1236Leu NC_000007.14:138899094:G:A p.(Pro1236Leu) NC_000007.14:138899094:G:A p.(Pro1236Leu) NC_000007.14:138899094:G:A Identity +NM_001035.3:c.10035G>T NP_001026.2:p.Arg3345Ser NC_000001.11:237708990:G:T p.(Arg3345Ser) NC_000001.11:237708990:G:T p.(Arg3345Ser) NC_000001.11:237708990:G:T Identity +NM_152383.5:c.2447_2450dup NP_689596.4:p.Leu818fs NC_000002.12:232335822:ACTCAC:ACTCACTCAC p.(Leu818HisfsTer7) NC_000002.12:232335822:ACTCAC:ACTCACTCAC p.(Leu818HisfsTer7) ERR:SPDI Analogous +NM_001379200.1:c.1069G>T NP_001366129.1:p.Asp357Tyr NC_000022.11:19766420:G:T p.(Asp357Tyr) NC_000022.11:19766420:G:T p.(Asp357Tyr) NC_000022.11:19766420:G:T Identity +NM_001185015.2:c.41T>C NP_001171944.1:p.Met14Thr NC_000002.12:230216904:A:G p.(Met14Thr) NC_000002.12:230216904:A:G p.(Met14Thr) NC_000002.12:230216904:A:G Identity +NM_001142800.2:c.1613G>T NP_001136272.1:p.Gly538Val NC_000006.12:65335132:C:A p.(Gly538Val) NC_000006.12:65335132:C:A p.(Gly538Val) NC_000006.12:65335132:C:A Identity +NM_001134477.3:c.1658T>C NP_001127949.1:p.Met553Thr NC_000016.10:14446910:A:G p.(Met553Thr) NC_000016.10:14446910:A:G p.(Met553Thr) NC_000016.10:14446910:A:G Identity +NM_000264.5:c.2365G>C NP_000255.2:p.Asp789His NC_000009.12:95467310:C:G p.(Asp789His) NC_000009.12:95467310:C:G p.(Asp789His) NC_000009.12:95467310:C:G Identity +NM_153240.5:c.334A>G NP_694972.3:p.Met112Val NC_000003.12:132722021:T:C p.(Met112Val) NC_000003.12:132722021:T:C p.(Met112Val) NC_000003.12:132722021:T:C Identity +NM_001370085.1:c.1093G>C NP_001357014.1:p.Val365Leu NC_000020.11:761804:C:G p.(Val365Leu) NC_000020.11:761804:C:G p.(Val365Leu) NC_000020.11:761804:C:G Identity +NM_000143.4:c.434C>T NP_000134.2:p.Ser145Leu NC_000001.11:241512087:G:A p.(Ser145Leu) NC_000001.11:241512087:G:A p.(Ser145Leu) NC_000001.11:241512087:G:A Identity +NM_003482.4:c.5759C>T NP_003473.3:p.Pro1920Leu NC_000012.12:49042763:G:A p.(Pro1920Leu) NC_000012.12:49042763:G:A p.(Pro1920Leu) NC_000012.12:49042763:G:A Identity +NM_001062.4:c.1151C>T NP_001053.2:p.Pro384Leu NC_000011.10:59853291:G:A p.(Pro384Leu) NC_000011.10:59853291:G:A p.(Pro384Leu) NC_000011.10:59853291:G:A Identity +NM_000090.4:c.2983C>T NP_000081.2:p.Pro995Ser NC_000002.12:189005400:C:T p.(Pro995Ser) NC_000002.12:189005400:C:T p.(Pro995Ser) NC_000002.12:189005400:C:T Identity +NM_004304.5:c.2359A>G NP_004295.2:p.Asn787Asp NC_000002.12:29233692:T:C p.(Asn787Asp) NC_000002.12:29233692:T:C p.(Asn787Asp) NC_000002.12:29233692:T:C Identity +NM_000109.4:c.3045A>C NP_000100.3:p.Glu1015Asp NC_000023.11:32468590:T:G p.(Glu1015Asp) NC_000023.11:32468590:T:G p.(Glu1015Asp) NC_000023.11:32468590:T:G Identity +NM_004370.6:c.5011T>C NP_004361.3:p.Phe1671Leu NC_000006.12:75138907:A:G p.(Phe1671Leu) NC_000006.12:75138907:A:G p.(Phe1671Leu) NC_000006.12:75138907:A:G Identity +NM_001357321.2:c.749A>G NP_001344250.1:p.Asn250Ser NC_000002.12:43852652:A:G p.(Asn250Ser) NC_000002.12:43852652:A:G p.(Asn250Ser) NC_000002.12:43852652:A:G Identity +NM_001330723.2:c.1475G>A NP_001317652.1:p.Arg492Gln NC_000001.11:151692995:G:A p.(Arg492Gln) NC_000001.11:151692995:G:A p.(Arg492Gln) NC_000001.11:151692995:G:A Identity +NM_001190709.2:c.2467G>A NP_001177638.1:p.Gly823Ser NC_000001.11:102979407:C:T p.(Gly823Ser) NC_000001.11:102979407:C:T p.(Gly823Ser) NC_000001.11:102979407:C:T Identity +NM_020988.3:c.470T>C NP_066268.1:p.Leu157Pro NC_000016.10:56334733:T:C p.(Leu157Pro) NC_000016.10:56334733:T:C p.(Leu157Pro) NC_000016.10:56334733:T:C Identity +NM_001040108.2:c.3406G>A NP_001035197.1:p.Glu1136Lys NC_000014.9:75041673:C:T p.(Glu1136Lys) NC_000014.9:75041673:C:T p.(Glu1136Lys) NC_000014.9:75041673:C:T Identity +NM_004629.2:c.293G>T NP_004620.1:p.Arg98Leu NC_000009.12:35078618:C:A p.(Arg98Leu) NC_000009.12:35078618:C:A p.(Arg98Leu) NC_000009.12:35078618:C:A Identity +NM_001346083.2:c.2365C>T NP_001333012.1:p.Arg789Cys NC_000001.11:205069994:C:T p.(Arg789Cys) NC_000001.11:205069994:C:T p.(Arg789Cys) NC_000001.11:205069994:C:T Identity +NM_000243.3:c.475A>G NP_000234.1:p.Ser159Gly NC_000016.10:3254592:T:C p.(Ser159Gly) NC_000016.10:3254592:T:C p.(Ser159Gly) NC_000016.10:3254592:T:C Identity +NM_001136052.3:c.1921C>T NP_001129524.1:p.Arg641Cys NC_000019.10:49711895:C:T p.(Arg641Cys) NC_000019.10:49711895:C:T p.(Arg641Cys) NC_000019.10:49711895:C:T Identity +NM_001347828.2:c.2926G>C NP_001334757.1:p.Glu976Gln NC_000004.12:54289084:G:C p.(Glu976Gln) NC_000004.12:54289084:G:C p.(Glu976Gln) NC_000004.12:54289084:G:C Identity +NM_001033604.2:c.767C>G NP_001028776.1:p.Ser256Trp NC_000007.14:33273075:C:G p.(Ser256Trp) NC_000007.14:33273075:C:G p.(Ser256Trp) NC_000007.14:33273075:C:G Identity +NM_000268.4:c.524A>G NP_000259.1:p.Asn175Ser NC_000022.11:29655600:A:G p.(Asn175Ser) NC_000022.11:29655600:A:G p.(Asn175Ser) NC_000022.11:29655600:A:G Identity +NM_001277115.2:c.8769_8785del NP_001264044.1:p.Val2924fs NC_000007.14:21749770:CTCGTGCTGATTAATGACT:CT p.(Val2924AlafsTer13) NC_000007.14:21749770:CTCGTGCTGATTAATGACT:CT p.(Val2924AlafsTer13) NC_000007.14:21749772:CGTGCTGATTAATGACT: Analogous +NM_198994.3:c.1844_1848del NP_945345.2:p.Pro615fs NC_000020.11:2430900:GCCCAGCC:GCC p.(Pro615HisfsTer55) NC_000020.11:2430900:GCCCAGCC:GCC p.(Pro615HisfsTer55) NC_000020.11:2430903:CAGCC: Analogous +NM_001302454.2:c.75del NP_001289383.1:p.Arg26fs NC_000019.10:11434941:GG:G p.(Arg26GlyfsTer56) NC_000019.10:11434941:GG:G p.(Arg26GlyfsTer56) NC_000019.10:11434941:G: Analogous +NM_001256850.1:c.35765_35766insT NP_001243779.1:p.Arg11924fs NC_000002.12:178640575::A p.(Arg11924LysfsTer7) NC_000002.12:178640574:T:A p.(Arg11924LysfsTer7) NC_000002.12:178640575:TG:A Analogous +NM_001256850.1:c.100051_100072dup NP_001243779.1:p.Leu33358fs NC_000002.12:178531619:GGGTGAGGACTCCACTCGTGTTGG:GGGTGAGGACTCCACTCGTGTTGGGTGAGGACTCCACTCGTGTTGG p.(Leu33358GlnfsTer16) NC_000002.12:178531619:GGGTGAGGACTCCACTCGTGTTGG:GGGTGAGGACTCCACTCGTGTTGGGTGAGGACTCCACTCGTGTTGG p.(Leu33358GlnfsTer16) ERR:SPDI Analogous +NM_001363850.1:c.614G>A NP_001350779.1:p.Arg205Gln NC_000016.10:89524242:G:A p.(Arg205Gln) NC_000016.10:89524242:G:A p.(Arg205Gln) NC_000016.10:89524242:G:A Identity +NM_001164507.2:c.18121A>T NP_001157979.2:p.Ile6041Phe NC_000002.12:151567202:T:A p.(Ile6041Phe) NC_000002.12:151567202:T:A p.(Ile6041Phe) NC_000002.12:151567202:T:A Identity +NM_001011649.3:c.4920G>A NP_001011649.1:p.Trp1640Ter NC_000009.12:120402955:C:T p.(Trp1640Ter) NC_000009.12:120402955:C:T p.(Trp1640Ter) NC_000009.12:120402955:C:T Identity +NM_032730.5:c.256A>G NP_116119.2:p.Ile86Val NC_000006.12:106628765:T:C p.(Ile86Val) NC_000006.12:106628765:T:C p.(Ile86Val) NC_000006.12:106628765:T:C Identity +NM_001165963.4:c.1141C>A NP_001159435.1:p.Gln381Lys NC_000002.12:166047655:G:T p.(Gln381Lys) NC_000002.12:166047655:G:T p.(Gln381Lys) NC_000002.12:166047655:G:T Identity +NM_001112808.3:c.653T>A NP_001106279.3:p.Ile218Asn NC_000001.11:74271613:T:A p.(Ile218Asn) NC_000001.11:74271613:T:A p.(Ile218Asn) NC_000001.11:74271613:T:A Identity +NM_000068.4:c.4840_4841del NP_000059.3:p.Leu1614fs NC_000019.10:13253027:AGAGAGA:AGAGA p.(Leu1614GlyfsTer38) NC_000019.10:13253027:AGAGAGA:AGAGA p.(Leu1614GlyfsTer38) NC_000019.10:13253027:AG: Analogous +NM_001127231.3:c.3230T>C NP_001120703.1:p.Leu1077Pro NC_000007.14:70790517:T:C p.(Leu1077Pro) NC_000007.14:70790517:T:C p.(Leu1077Pro) NC_000007.14:70790517:T:C Identity +NM_001142805.2:c.916T>C NP_001136277.1:p.Trp306Arg NC_000023.11:153693265:T:C p.(Trp306Arg) NC_000023.11:153693265:T:C p.(Trp306Arg) NC_000023.11:153693265:T:C Identity +NM_001306219.3:c.152dup NP_001293148.1:p.Ala52fs NC_000015.10:57231232:TT:TTT p.(Ala52ArgfsTer2) NC_000015.10:57231232:TT:TTT p.(Ala52ArgfsTer2) ERR:SPDI Analogous +NM_001018088.3:c.3003_3004del NP_001018098.1:p.Asn1001fs NC_000015.10:61966129:CA: p.(Asn1001LysfsTer3) NC_000015.10:61966129:CA: p.(Asn1001LysfsTer3) NC_000015.10:61966129:CA: Analogous +NM_006545.5:c.1082G>A NP_006536.3:p.Ser361Asn NC_000003.12:50347666:C:T p.(Ser361Asn) NC_000003.12:50347666:C:T p.(Ser361Asn) NC_000003.12:50347666:C:T Identity +NM_020719.3:c.2755C>T NP_065770.1:p.Gln919Ter NC_000019.10:49597089:C:T p.(Gln919Ter) NC_000019.10:49597089:C:T p.(Gln919Ter) NC_000019.10:49597089:C:T Identity +NM_001999.4:c.4363G>A NP_001990.2:p.Glu1455Lys NC_000005.10:128328803:C:T p.(Glu1455Lys) NC_000005.10:128328803:C:T p.(Glu1455Lys) NC_000005.10:128328803:C:T Identity +NM_001146056.3:c.434G>C NP_001139528.1:p.Arg145Pro NC_000019.10:54180973:C:G p.(Arg145Pro) NC_000019.10:54180973:C:G p.(Arg145Pro) NC_000019.10:54180973:C:G Identity +NM_001174081.3:c.1474G>A NP_001167552.1:p.Asp492Asn NC_000019.10:54983171:G:A p.(Asp492Asn) NC_000019.10:54983171:G:A p.(Asp492Asn) NC_000019.10:54983171:G:A Identity +NM_001143973.2:c.1297G>C NP_001137445.1:p.Val433Leu NC_000010.11:95664149:C:G p.(Val433Leu) NC_000010.11:95664149:C:G p.(Val433Leu) NC_000010.11:95664149:C:G Identity +NM_001130438.3:c.2644C>T NP_001123910.1:p.Arg882Cys NC_000009.12:128585830:C:T p.(Arg882Cys) NC_000009.12:128585830:C:T p.(Arg882Cys) NC_000009.12:128585830:C:T Identity +NM_001040142.2:c.6004G>A NP_001035232.1:p.Glu2002Lys NC_000002.12:165389809:G:A p.(Glu2002Lys) NC_000002.12:165389809:G:A p.(Glu2002Lys) NC_000002.12:165389809:G:A Identity +NM_001256850.1:c.55436_55448del NP_001243779.1:p.Lys18479fs NC_000002.12:178591353:TGCTCATCGGTTTT:T p.(Lys18479ThrfsTer19) NC_000002.12:178591353:TGCTCATCGGTTTT:T p.(Lys18479ThrfsTer19) NC_000002.12:178591353:TGCTCATCGGTTT: Analogous +NM_001171.6:c.2378A>G NP_001162.5:p.Asn793Ser NC_000016.10:16178834:T:C p.(Asn793Ser) NC_000016.10:16178834:T:C p.(Asn793Ser) NC_000016.10:16178834:T:C Identity +NM_005045.4:c.2485C>T NP_005036.2:p.Pro829Ser NC_000007.14:103630156:G:A p.(Pro829Ser) NC_000007.14:103630156:G:A p.(Pro829Ser) NC_000007.14:103630156:G:A Identity +NM_001164617.2:c.301A>C NP_001158089.1:p.Lys101Gln NC_000023.11:133953085:T:G p.(Lys101Gln) NC_000023.11:133953085:T:G p.(Lys101Gln) NC_000023.11:133953085:T:G Identity +NM_001164688.2:c.55A>T NP_001158160.1:p.Arg19Trp NC_000001.11:211481360:T:A p.(Arg19Trp) NC_000001.11:211481360:T:A p.(Arg19Trp) NC_000001.11:211481360:T:A Identity +NM_015139.3:c.37A>G NP_055954.1:p.Lys13Glu NC_000001.11:67053976:T:C p.(Lys13Glu) NC_000001.11:67053976:T:C p.(Lys13Glu) NC_000001.11:67053976:T:C Identity +NM_017780.4:c.3036G>C NP_060250.2:p.Leu1012Phe NC_000008.11:60822580:G:C p.(Leu1012Phe) NC_000008.11:60822580:G:C p.(Leu1012Phe) NC_000008.11:60822580:G:C Identity +NM_000350.3:c.5069T>C NP_000341.2:p.Met1690Thr NC_000001.11:94019708:A:G p.(Met1690Thr) NC_000001.11:94019708:A:G p.(Met1690Thr) NC_000001.11:94019708:A:G Identity +NM_001160227.2:c.3331G>A NP_001153699.1:p.Val1111Met NC_000015.10:44608565:C:T p.(Val1111Met) NC_000015.10:44608565:C:T p.(Val1111Met) NC_000015.10:44608565:C:T Identity +NM_001042385.2:c.571G>A NP_001035844.1:p.Asp191Asn NC_000002.12:44343789:C:T p.(Asp191Asn) NC_000002.12:44343789:C:T p.(Asp191Asn) NC_000002.12:44343789:C:T Identity +NM_001287491.2:c.2731C>G NP_001274420.1:p.Arg911Gly NC_000002.12:74087880:C:G p.(Arg911Gly) NC_000002.12:74087880:C:G p.(Arg911Gly) NC_000002.12:74087880:C:G Identity +NM_015681.6:c.547T>A NP_056496.1:p.Tyr183Asn NC_000017.11:19343386:A:T p.(Tyr183Asn) NC_000017.11:19343386:A:T p.(Tyr183Asn) NC_000017.11:19343386:A:T Identity +NM_001352773.2:c.1085C>T NP_001339702.1:p.Thr362Ile NC_000017.11:41764785:G:A p.(Thr362Ile) NC_000017.11:41764785:G:A p.(Thr362Ile) NC_000017.11:41764785:G:A Identity +NM_001127214.4:c.788C>G NP_001120686.1:p.Thr263Ser NC_000016.10:89102724:C:G p.(Thr263Ser) NC_000016.10:89102724:C:G p.(Thr263Ser) NC_000016.10:89102724:C:G Identity +NM_001354723.2:c.493T>C NP_001341652.1:p.Tyr165His NC_000003.12:10142914:T:C p.(Tyr165His) NC_000003.12:10142914:T:C p.(Tyr165His) NC_000003.12:10142914:T:C Identity +NM_001172818.1:c.319G>A NP_001166289.1:p.Gly107Arg NC_000001.11:63629442:G:A p.(Gly107Arg) NC_000001.11:63629442:G:A p.(Gly107Arg) NC_000001.11:63629442:G:A Identity +NM_000109.4:c.6374C>A NP_000100.3:p.Pro2125His NC_000023.11:32216955:G:T p.(Pro2125His) NC_000023.11:32216955:G:T p.(Pro2125His) NC_000023.11:32216955:G:T Identity +NM_000806.5:c.653A>C NP_000797.2:p.Tyr218Ser NC_000005.10:161882650:A:C p.(Tyr218Ser) NC_000005.10:161882650:A:C p.(Tyr218Ser) NC_000005.10:161882650:A:C Identity +NM_001350859.2:c.509T>C NP_001337788.1:p.Val170Ala NC_000003.12:134620783:A:G p.(Val170Ala) NC_000003.12:134620783:A:G p.(Val170Ala) NC_000003.12:134620783:A:G Identity +NM_001351444.2:c.1704_1707del NP_001338373.1:p.Asn568fs NC_000006.12:87255750:AATGAA:AA p.(Asn568LysfsTer24) NC_000006.12:87255750:AATGAA:AA p.(Asn568LysfsTer24) NC_000006.12:87255752:TGAA: Analogous +NM_001370528.1:c.1642G>A NP_001357457.1:p.Ala548Thr NC_000003.12:64146847:C:T p.(Ala548Thr) NC_000003.12:64146847:C:T p.(Ala548Thr) NC_000003.12:64146847:C:T Identity +NM_001300895.3:c.416C>T NP_001287824.1:p.Ala139Val NC_000011.10:67458449:C:T p.(Ala139Val) NC_000011.10:67458449:C:T p.(Ala139Val) NC_000011.10:67458449:C:T Identity +NM_032043.3:c.3692T>G NP_114432.2:p.Ile1231Arg NC_000017.11:61683353:A:C p.(Ile1231Arg) NC_000017.11:61683353:A:C p.(Ile1231Arg) NC_000017.11:61683353:A:C Identity +NM_001316327.2:c.743G>A NP_001303256.1:p.Gly248Asp NC_000003.12:53183536:G:A p.(Gly248Asp) NC_000003.12:53183536:G:A p.(Gly248Asp) NC_000003.12:53183536:G:A Identity +NM_001365536.1:c.4163A>G NP_001352465.1:p.Asn1388Ser NC_000002.12:166228733:T:C p.(Asn1388Ser) NC_000002.12:166228733:T:C p.(Asn1388Ser) NC_000002.12:166228733:T:C Identity +NM_001277115.2:c.13075C>G NP_001264044.1:p.Arg4359Gly NC_000007.14:21899360:C:G p.(Arg4359Gly) NC_000007.14:21899360:C:G p.(Arg4359Gly) NC_000007.14:21899360:C:G Identity +NM_004064.5:c.109G>A NP_004055.1:p.Asp37Asn NC_000012.12:12717947:G:A p.(Asp37Asn) NC_000012.12:12717947:G:A p.(Asp37Asn) NC_000012.12:12717947:G:A Identity +NM_000535.7:c.1493G>A NP_000526.2:p.Ser498Asn NC_000007.14:5987271:C:T p.(Ser498Asn) NC_000007.14:5987271:C:T p.(Ser498Asn) NC_000007.14:5987271:C:T Identity +NM_001127487.2:c.5558A>G NP_001120959.1:p.Asp1853Gly NC_000007.14:128851348:A:G p.(Asp1853Gly) NC_000007.14:128851348:A:G p.(Asp1853Gly) NC_000007.14:128851348:A:G Identity +NM_001306090.2:c.37_38del NP_001293019.1:p.Arg13fs NC_000004.12:5711412:CGCGCG:CGCG p.(Arg13AlafsTer59) NC_000004.12:5711412:CGCGCG:CGCG p.(Arg13AlafsTer59) NC_000004.12:5711416:CG: Analogous +NM_032444.4:c.433G>A NP_115820.2:p.Ala145Thr NC_000016.10:3608531:C:T p.(Ala145Thr) NC_000016.10:3608531:C:T p.(Ala145Thr) NC_000016.10:3608531:C:T Identity +NM_001161587.2:c.823G>T NP_001155059.1:p.Ala275Ser NC_000019.10:48982301:C:A p.(Ala275Ser) NC_000019.10:48982301:C:A p.(Ala275Ser) NC_000019.10:48982301:C:A Identity +NM_001048171.2:c.1264A>C NP_001041636.2:p.Lys422Gln NC_000001.11:45331309:T:G p.(Lys422Gln) NC_000001.11:45331309:T:G p.(Lys422Gln) NC_000001.11:45331309:T:G Identity +NM_001193300.2:c.937G>A NP_001180229.1:p.Asp313Asn NC_000001.11:156161471:G:A p.(Asp313Asn) NC_000001.11:156161471:G:A p.(Asp313Asn) NC_000001.11:156161471:G:A Identity +NM_001193465.2:c.1909G>A NP_001180394.1:p.Gly637Ser NC_000017.11:46050643:C:T p.(Gly637Ser) NC_000017.11:46050643:C:T p.(Gly637Ser) NC_000017.11:46050643:C:T Identity +NM_001251987.2:c.809G>A NP_001238916.1:p.Cys270Tyr NC_000006.12:123497236:C:T p.(Cys270Tyr) NC_000006.12:123497236:C:T p.(Cys270Tyr) NC_000006.12:123497236:C:T Identity +NM_001142800.2:c.4010A>G NP_001136272.1:p.His1337Arg NC_000006.12:64591856:T:C p.(His1337Arg) NC_000006.12:64591856:T:C p.(His1337Arg) NC_000006.12:64591856:T:C Identity +NM_001256850.1:c.36509del NP_001243779.1:p.Val12170fs NC_000002.12:178636138:A: p.(Val12170AlafsTer23) NC_000002.12:178636138:A: p.(Val12170AlafsTer23) NC_000002.12:178636138:A: Analogous +NM_145200.5:c.326A>G NP_660201.1:p.Gln109Arg NC_000011.10:67455748:A:G p.(Gln109Arg) NC_000011.10:67455748:A:G p.(Gln109Arg) NC_000011.10:67455748:A:G Identity +NM_001723.7:c.4622T>C NP_001714.1:p.Leu1541Ser NC_000006.12:56619411:A:G p.(Leu1541Ser) NC_000006.12:56619411:A:G p.(Leu1541Ser) NC_000006.12:56619411:A:G Identity +NM_000813.3:c.197T>C NP_000804.1:p.Ile66Thr NC_000005.10:161545266:A:G p.(Ile66Thr) NC_000005.10:161545266:A:G p.(Ile66Thr) NC_000005.10:161545266:A:G Identity +NM_014714.4:c.1871C>T NP_055529.2:p.Thr624Met NC_000016.10:1566190:G:A p.(Thr624Met) NC_000016.10:1566190:G:A p.(Thr624Met) NC_000016.10:1566190:G:A Identity +NM_001141973.3:c.3025G>A NP_001135445.1:p.Gly1009Ser NC_000001.11:16987088:C:T p.(Gly1009Ser) NC_000001.11:16987088:C:T p.(Gly1009Ser) NC_000001.11:16987088:C:T Identity +NM_001201543.2:c.55G>A NP_001188472.1:p.Val19Ile NC_000002.12:61853986:C:T p.(Val19Ile) NC_000002.12:61853986:C:T p.(Val19Ile) NC_000002.12:61853986:C:T Identity +NM_001385197.1:c.187A>G NP_001372126.1:p.Lys63Glu NC_000019.10:10378219:T:C p.(Lys63Glu) NC_000019.10:10378219:T:C p.(Lys63Glu) NC_000019.10:10378219:T:C Identity +NM_001783.4:c.182A>T NP_001774.1:p.Asn61Ile NC_000019.10:41879091:A:T p.(Asn61Ile) NC_000019.10:41879091:A:T p.(Asn61Ile) NC_000019.10:41879091:A:T Identity +NM_001365999.1:c.2630C>A NP_001352928.1:p.Thr877Asn NC_000001.11:43425191:C:A p.(Thr877Asn) NC_000001.11:43425191:C:A p.(Thr877Asn) NC_000001.11:43425191:C:A Identity +NM_000245.4:c.703A>C NP_000236.2:p.Ile235Leu NC_000007.14:116699786:A:C p.(Ile235Leu) NC_000007.14:116699786:A:C p.(Ile235Leu) NC_000007.14:116699786:A:C Identity +NM_001303256.3:c.2361C>A NP_001290185.1:p.Asp787Glu NC_000022.11:30933484:G:T p.(Asp787Glu) NC_000022.11:30933484:G:T p.(Asp787Glu) NC_000022.11:30933484:G:T Identity +NM_000245.4:c.2954G>C NP_000236.2:p.Ser985Thr NC_000007.14:116771914:G:C p.(Ser985Thr) NC_000007.14:116771914:G:C p.(Ser985Thr) NC_000007.14:116771914:G:C Identity +NM_004655.4:c.1859G>T NP_004646.3:p.Trp620Leu NC_000017.11:65536916:C:A p.(Trp620Leu) NC_000017.11:65536916:C:A p.(Trp620Leu) NC_000017.11:65536916:C:A Identity +NM_001029883.3:c.705G>T NP_001025054.1:p.Glu235Asp NC_000002.12:29073556:C:A p.(Glu235Asp) NC_000002.12:29073556:C:A p.(Glu235Asp) NC_000002.12:29073556:C:A Identity +NM_000350.3:c.1817G>A NP_000341.2:p.Gly606Asp NC_000001.11:94062696:C:T p.(Gly606Asp) NC_000001.11:94062696:C:T p.(Gly606Asp) NC_000001.11:94062696:C:T Identity +NM_001272003.2:c.817G>A NP_001258932.1:p.Gly273Ser NC_000009.12:135759775:G:A p.(Gly273Ser) NC_000009.12:135759775:G:A p.(Gly273Ser) NC_000009.12:135759775:G:A Identity +NM_001365536.1:c.5141A>C NP_001352465.1:p.Asp1714Ala NC_000002.12:166199497:T:G p.(Asp1714Ala) NC_000002.12:166199497:T:G p.(Asp1714Ala) NC_000002.12:166199497:T:G Identity +NM_012186.3:c.851A>G NP_036318.1:p.Glu284Gly NC_000001.11:47417165:A:G p.(Glu284Gly) NC_000001.11:47417165:A:G p.(Glu284Gly) NC_000001.11:47417165:A:G Identity +NM_001167749.3:c.4304G>C NP_001161221.1:p.Arg1435Thr NC_000001.11:167809747:C:G p.(Arg1435Thr) NC_000001.11:167809747:C:G p.(Arg1435Thr) NC_000001.11:167809747:C:G Identity +NM_001385197.1:c.1579C>T NP_001372126.1:p.Arg527Trp NC_000019.10:10362353:G:A p.(Arg527Trp) NC_000019.10:10362353:G:A p.(Arg527Trp) NC_000019.10:10362353:G:A Identity +NM_052813.5:c.1541G>C NP_434700.2:p.Gly514Ala NC_000009.12:136364371:C:G p.(Gly514Ala) NC_000009.12:136364371:C:G p.(Gly514Ala) NC_000009.12:136364371:C:G Identity +NM_001130965.3:c.1216G>A NP_001124437.1:p.Gly406Arg NC_000007.14:853570:G:A p.(Gly406Arg) NC_000007.14:853570:G:A p.(Gly406Arg) NC_000007.14:853570:G:A Identity +NM_005477.3:c.2615G>A NP_005468.1:p.Ser872Asn NC_000015.10:73323477:C:T p.(Ser872Asn) NC_000015.10:73323477:C:T p.(Ser872Asn) NC_000015.10:73323477:C:T Identity +NM_000445.5:c.389T>C NP_000436.2:p.Val130Ala NC_000008.11:143937198:A:G p.(Val130Ala) NC_000008.11:143937198:A:G p.(Val130Ala) NC_000008.11:143937198:A:G Identity +NM_024675.4:c.1309A>G NP_078951.2:p.Lys437Glu NC_000016.10:23635236:T:C p.(Lys437Glu) NC_000016.10:23635236:T:C p.(Lys437Glu) NC_000016.10:23635236:T:C Identity +NM_001172417.1:c.770C>T NP_001165888.1:p.Thr257Ile NC_000002.12:232768263:G:A p.(Thr257Ile) NC_000002.12:232768263:G:A p.(Thr257Ile) NC_000002.12:232768263:G:A Identity +NM_172364.5:c.989T>C NP_758952.4:p.Ile330Thr NC_000012.12:1886226:A:G p.(Ile330Thr) NC_000012.12:1886226:A:G p.(Ile330Thr) NC_000012.12:1886226:A:G Identity +NM_001206927.2:c.13462A>C NP_001193856.1:p.Ile4488Leu NC_000006.12:39012304:A:C p.(Ile4488Leu) NC_000006.12:39012304:A:C p.(Ile4488Leu) NC_000006.12:39012304:A:C Identity +NM_003803.4:c.1847G>A NP_003794.3:p.Arg616His NC_000018.10:3149197:C:T p.(Arg616His) NC_000018.10:3149197:C:T p.(Arg616His) NC_000018.10:3149197:C:T Identity +NM_001290307.3:c.1057G>T NP_001277236.1:p.Gly353Cys NC_000005.10:138827712:G:T p.(Gly353Cys) NC_000005.10:138827712:G:T p.(Gly353Cys) NC_000005.10:138827712:G:T Identity +NM_006393.3:c.241G>T NP_006384.1:p.Gly81Cys NC_000010.11:20889861:C:A p.(Gly81Cys) NC_000010.11:20889861:C:A p.(Gly81Cys) NC_000010.11:20889861:C:A Identity +NM_000077.5:c.311T>C NP_000068.1:p.Leu104Pro NC_000009.12:21971047:A:G p.(Leu104Pro) NC_000009.12:21971047:A:G p.(Leu104Pro) NC_000009.12:21971047:A:G Identity +NM_001283050.2:c.418G>T NP_001269979.1:p.Val140Leu NC_000021.9:44235550:C:A p.(Val140Leu) NC_000021.9:44235550:C:A p.(Val140Leu) NC_000021.9:44235550:C:A Identity +NM_001379277.1:c.329G>A NP_001366206.1:p.Cys110Tyr NC_000007.14:92061341:G:A p.(Cys110Tyr) NC_000007.14:92061341:G:A p.(Cys110Tyr) NC_000007.14:92061341:G:A Identity +NM_001134771.2:c.2754G>C NP_001128243.1:p.Glu918Asp NC_000020.11:46054920:G:C p.(Glu918Asp) NC_000020.11:46054920:G:C p.(Glu918Asp) NC_000020.11:46054920:G:C Identity +NM_000920.4:c.2447G>A NP_000911.2:p.Cys816Tyr NC_000011.10:66850699:C:T p.(Cys816Tyr) NC_000011.10:66850699:C:T p.(Cys816Tyr) NC_000011.10:66850699:C:T Identity +NM_000038.6:c.4598A>G NP_000029.2:p.Asn1533Ser NC_000005.10:112840191:A:G p.(Asn1533Ser) NC_000005.10:112840191:A:G p.(Asn1533Ser) NC_000005.10:112840191:A:G Identity +NM_021629.4:c.941G>A NP_067642.1:p.Arg314His NC_000003.12:179401294:C:T p.(Arg314His) NC_000003.12:179401294:C:T p.(Arg314His) NC_000003.12:179401294:C:T Identity +NM_000319.5:c.1291C>A NP_000310.2:p.Leu431Met NC_000012.12:7208589:C:A p.(Leu431Met) NC_000012.12:7208589:C:A p.(Leu431Met) NC_000012.12:7208589:C:A Identity +NM_000548.5:c.1306C>G NP_000539.2:p.Pro436Ala NC_000016.10:2062544:C:G p.(Pro436Ala) NC_000016.10:2062544:C:G p.(Pro436Ala) NC_000016.10:2062544:C:G Identity +NM_000739.3:c.227C>G NP_000730.1:p.Ser76Cys NC_000007.14:137015091:C:G p.(Ser76Cys) NC_000007.14:137015091:C:G p.(Ser76Cys) NC_000007.14:137015091:C:G Identity +NM_001199579.2:c.578C>T NP_001186508.1:p.Ser193Leu NC_000022.11:38750229:G:A p.(Ser193Leu) NC_000022.11:38750229:G:A p.(Ser193Leu) NC_000022.11:38750229:G:A Identity +NM_001384466.1:c.1976G>A NP_001371395.1:p.Arg659Gln NC_000011.10:64118242:G:A p.(Arg659Gln) NC_000011.10:64118242:G:A p.(Arg659Gln) NC_000011.10:64118242:G:A Identity +NM_032444.4:c.4130C>G NP_115820.2:p.Ser1377Trp NC_000016.10:3589507:G:C p.(Ser1377Trp) NC_000016.10:3589507:G:C p.(Ser1377Trp) NC_000016.10:3589507:G:C Identity +NM_000109.4:c.857C>T NP_000100.3:p.Pro286Leu NC_000023.11:32697948:G:A p.(Pro286Leu) NC_000023.11:32697948:G:A p.(Pro286Leu) NC_000023.11:32697948:G:A Identity +NM_001282660.2:c.1351C>G NP_001269589.1:p.Pro451Ala NC_000022.11:40419086:G:C p.(Pro451Ala) NC_000022.11:40419086:G:C p.(Pro451Ala) NC_000022.11:40419086:G:C Identity +NM_001127487.2:c.913G>A NP_001120959.1:p.Ala305Thr NC_000007.14:128837698:G:A p.(Ala305Thr) NC_000007.14:128837698:G:A p.(Ala305Thr) NC_000007.14:128837698:G:A Identity +NM_021620.4:c.353G>T NP_067633.2:p.Trp118Leu NC_000006.12:99609262:G:T p.(Trp118Leu) NC_000006.12:99609262:G:T p.(Trp118Leu) NC_000006.12:99609262:G:T Identity +NM_001184985.2:c.5357C>T NP_001171914.1:p.Ala1786Val NC_000012.12:885380:C:T p.(Ala1786Val) NC_000012.12:885380:C:T p.(Ala1786Val) NC_000012.12:885380:C:T Identity +NM_002292.4:c.5186C>T NP_002283.3:p.Ala1729Val NC_000003.12:49121506:G:A p.(Ala1729Val) NC_000003.12:49121506:G:A p.(Ala1729Val) NC_000003.12:49121506:G:A Identity +NM_001563.4:c.222C>A NP_001554.2:p.Phe74Leu NC_000006.12:76041971:G:T p.(Phe74Leu) NC_000006.12:76041971:G:T p.(Phe74Leu) NC_000006.12:76041971:G:T Identity +NM_000368.5:c.932C>T NP_000359.1:p.Pro311Leu NC_000009.12:132911549:G:A p.(Pro311Leu) NC_000009.12:132911549:G:A p.(Pro311Leu) NC_000009.12:132911549:G:A Identity +NM_001145138.2:c.1604C>T NP_001138610.1:p.Ala535Val NC_000011.10:65654420:G:A p.(Ala535Val) NC_000011.10:65654420:G:A p.(Ala535Val) NC_000011.10:65654420:G:A Identity +NM_001318219.1:c.3131G>A NP_001305148.1:p.Arg1044Gln NC_000020.11:35503395:G:A p.(Arg1044Gln) NC_000020.11:35503395:G:A p.(Arg1044Gln) NC_000020.11:35503395:G:A Identity +NM_000022.4:c.574A>G NP_000013.2:p.Ser192Gly NC_000020.11:44624233:T:C p.(Ser192Gly) NC_000020.11:44624233:T:C p.(Ser192Gly) NC_000020.11:44624233:T:C Identity +NM_000719.7:c.1343A>C NP_000710.5:p.Asp448Ala NC_000012.12:2512936:A:C p.(Asp448Ala) NC_000012.12:2512936:A:C p.(Asp448Ala) NC_000012.12:2512936:A:C Identity +NM_001193465.2:c.3013G>T NP_001180394.1:p.Ala1005Ser NC_000017.11:46032120:C:A p.(Ala1005Ser) NC_000017.11:46032120:C:A p.(Ala1005Ser) NC_000017.11:46032120:C:A Identity +NM_020461.4:c.5131C>T NP_065194.3:p.Arg1711Cys NC_000022.11:50218225:G:A p.(Arg1711Cys) NC_000022.11:50218225:G:A p.(Arg1711Cys) NC_000022.11:50218225:G:A Identity +NM_005506.4:c.488A>G NP_005497.1:p.Tyr163Cys NC_000004.12:76179640:T:C p.(Tyr163Cys) NC_000004.12:76179640:T:C p.(Tyr163Cys) NC_000004.12:76179640:T:C Identity +NM_000548.5:c.61C>A NP_000539.2:p.Leu21Met NC_000016.10:2048675:C:A p.(Leu21Met) NC_000016.10:2048675:C:A p.(Leu21Met) NC_000016.10:2048675:C:A Identity +NM_001379200.1:c.1374C>G NP_001366129.1:p.His458Gln NC_000022.11:19766725:C:G p.(His458Gln) NC_000022.11:19766725:C:G p.(His458Gln) NC_000022.11:19766725:C:G Identity +NM_001369031.1:c.74G>A NP_001355960.1:p.Arg25Gln NC_000023.11:63724646:C:T p.(Arg25Gln) NC_000023.11:63724646:C:T p.(Arg25Gln) NC_000023.11:63724646:C:T Identity +NM_001036.6:c.2028G>T NP_001027.3:p.Glu676Asp NC_000015.10:33603227:G:T p.(Glu676Asp) NC_000015.10:33603227:G:T p.(Glu676Asp) NC_000015.10:33603227:G:T Identity +NM_002471.4:c.1616G>T NP_002462.2:p.Cys539Phe NC_000014.9:23399002:C:A p.(Cys539Phe) NC_000014.9:23399002:C:A p.(Cys539Phe) NC_000014.9:23399002:C:A Identity +NM_000287.4:c.152C>A NP_000278.3:p.Ala51Glu NC_000006.12:42978998:G:T p.(Ala51Glu) NC_000006.12:42978998:G:T p.(Ala51Glu) NC_000006.12:42978998:G:T Identity +NM_001258040.3:c.709G>A NP_001244969.1:p.Val237Ile NC_000005.10:140677110:C:T p.(Val237Ile) NC_000005.10:140677110:C:T p.(Val237Ile) NC_000005.10:140677110:C:T Identity +NM_001382361.1:c.706C>T NP_001369290.1:p.Leu236Phe NC_000011.10:64211666:C:T p.(Leu236Phe) NC_000011.10:64211666:C:T p.(Leu236Phe) NC_000011.10:64211666:C:T Identity +NM_022168.4:c.1133A>G NP_071451.2:p.Gln378Arg NC_000002.12:162282538:T:C p.(Gln378Arg) NC_000002.12:162282538:T:C p.(Gln378Arg) NC_000002.12:162282538:T:C Identity +NM_206933.4:c.13084C>T NP_996816.3:p.Pro4362Ser NC_000001.11:215674826:G:A p.(Pro4362Ser) NC_000001.11:215674826:G:A p.(Pro4362Ser) NC_000001.11:215674826:G:A Identity +NM_015662.3:c.1352G>A NP_056477.1:p.Arg451Gln NC_000002.12:27476699:C:T p.(Arg451Gln) NC_000002.12:27476699:C:T p.(Arg451Gln) NC_000002.12:27476699:C:T Identity +NM_004523.4:c.1784A>C NP_004514.2:p.Asn595Thr NC_000010.11:92633703:A:C p.(Asn595Thr) NC_000010.11:92633703:A:C p.(Asn595Thr) NC_000010.11:92633703:A:C Identity +NM_000264.5:c.1089G>A NP_000255.2:p.Met363Ile NC_000009.12:95479125:C:T p.(Met363Ile) NC_000009.12:95479125:C:T p.(Met363Ile) NC_000009.12:95479125:C:T Identity +NM_000335.5:c.1198G>A NP_000326.2:p.Gly400Arg NC_000003.12:38606090:C:T p.(Gly400Arg) NC_000003.12:38606090:C:T p.(Gly400Arg) NC_000003.12:38606090:C:T Identity +NM_001326358.2:c.1702G>A NP_001313287.1:p.Val568Ile NC_000016.10:77321147:C:T p.(Val568Ile) NC_000016.10:77321147:C:T p.(Val568Ile) NC_000016.10:77321147:C:T Identity +NM_001128175.2:c.938G>A NP_001121647.1:p.Arg313His NC_000018.10:34820851:G:A p.(Arg313His) NC_000018.10:34820851:G:A p.(Arg313His) NC_000018.10:34820851:G:A Identity +NM_024589.3:c.151G>A NP_078865.1:p.Gly51Ser NC_000016.10:4801551:C:T p.(Gly51Ser) NC_000016.10:4801551:C:T p.(Gly51Ser) NC_000016.10:4801551:C:T Identity +NM_005732.4:c.2852T>C NP_005723.2:p.Val951Ala NC_000005.10:132609138:T:C p.(Val951Ala) NC_000005.10:132609138:T:C p.(Val951Ala) NC_000005.10:132609138:T:C Identity +NM_002900.3:c.3445G>A NP_002891.1:p.Gly1149Ser NC_000010.11:47357157:G:A p.(Gly1149Ser) NC_000010.11:47357157:G:A p.(Gly1149Ser) NC_000010.11:47357157:G:A Identity +NM_001131015.2:c.983C>T NP_001124487.1:p.Pro328Leu NC_000009.12:128179223:G:A p.(Pro328Leu) NC_000009.12:128179223:G:A p.(Pro328Leu) NC_000009.12:128179223:G:A Identity +NM_001077350.3:c.217T>G NP_001070818.1:p.Leu73Val NC_000016.10:119226:A:C p.(Leu73Val) NC_000016.10:119226:A:C p.(Leu73Val) NC_000016.10:119226:A:C Identity +NM_001365999.1:c.2159C>T NP_001352928.1:p.Pro720Leu NC_000001.11:43423219:C:T p.(Pro720Leu) NC_000001.11:43423219:C:T p.(Pro720Leu) NC_000001.11:43423219:C:T Identity +NM_001195139.2:c.2066C>G NP_001182068.2:p.Ser689Trp NC_000016.10:70481452:G:C p.(Ser689Trp) NC_000016.10:70481452:G:C p.(Ser689Trp) NC_000016.10:70481452:G:C Identity +NM_005045.4:c.7043G>A NP_005036.2:p.Gly2348Asp NC_000007.14:103539214:C:T p.(Gly2348Asp) NC_000007.14:103539214:C:T p.(Gly2348Asp) NC_000007.14:103539214:C:T Identity +NM_001198842.2:c.257C>T NP_001185771.1:p.Ala86Val NC_000012.12:69588213:C:T p.(Ala86Val) NC_000012.12:69588213:C:T p.(Ala86Val) NC_000012.12:69588213:C:T Identity +NM_000409.5:c.211A>G NP_000400.2:p.Ile71Val NC_000006.12:42178288:A:G p.(Ile71Val) NC_000006.12:42178288:A:G p.(Ile71Val) NC_000006.12:42178288:A:G Identity +NM_000183.3:c.65C>G NP_000174.1:p.Ser22Cys NC_000002.12:26254429:C:G p.(Ser22Cys) NC_000002.12:26254429:C:G p.(Ser22Cys) NC_000002.12:26254429:C:G Identity +NM_000143.4:c.599C>T NP_000134.2:p.Ala200Val NC_000001.11:241508741:G:A p.(Ala200Val) NC_000001.11:241508741:G:A p.(Ala200Val) NC_000001.11:241508741:G:A Identity +NM_001166292.2:c.2219C>T NP_001159764.1:p.Ala740Val NC_000001.11:44827553:G:A p.(Ala740Val) NC_000001.11:44827553:G:A p.(Ala740Val) NC_000001.11:44827553:G:A Identity +NM_001134418.2:c.35C>T NP_001127890.1:p.Ala12Val NC_000003.12:189995344:G:A p.(Ala12Val) NC_000003.12:189995344:G:A p.(Ala12Val) NC_000003.12:189995344:G:A Identity +NM_000154.2:c.919A>C NP_000145.1:p.Met307Leu NC_000017.11:75758473:T:G p.(Met307Leu) NC_000017.11:75758473:T:G p.(Met307Leu) NC_000017.11:75758473:T:G Identity +NM_001136029.4:c.3292T>C NP_001129501.1:p.Phe1098Leu NC_000022.11:31861421:T:C p.(Phe1098Leu) NC_000022.11:31861421:T:C p.(Phe1098Leu) NC_000022.11:31861421:T:C Identity +NM_032119.4:c.3934G>A NP_115495.3:p.Val1312Met NC_000005.10:90653507:G:A p.(Val1312Met) NC_000005.10:90653507:G:A p.(Val1312Met) NC_000005.10:90653507:G:A Identity +NM_000843.4:c.392C>G NP_000834.2:p.Pro131Arg NC_000005.10:178994552:G:C p.(Pro131Arg) NC_000005.10:178994552:G:C p.(Pro131Arg) NC_000005.10:178994552:G:C Identity +NM_000833.5:c.1109G>A NP_000824.1:p.Arg370Gln NC_000016.10:9890998:C:T p.(Arg370Gln) NC_000016.10:9890998:C:T p.(Arg370Gln) NC_000016.10:9890998:C:T Identity +NM_001271620.2:c.3073A>G NP_001258549.1:p.Asn1025Asp NC_000016.10:49635898:T:C p.(Asn1025Asp) NC_000016.10:49635898:T:C p.(Asn1025Asp) NC_000016.10:49635898:T:C Identity +NM_001256789.3:c.5137G>T NP_001243718.1:p.Ala1713Ser NC_000023.11:49207098:C:A p.(Ala1713Ser) NC_000023.11:49207098:C:A p.(Ala1713Ser) NC_000023.11:49207098:C:A Identity +NM_001001290.2:c.451G>A NP_001001290.1:p.Val151Ile NC_000004.12:9980734:C:T p.(Val151Ile) NC_000004.12:9980734:C:T p.(Val151Ile) NC_000004.12:9980734:C:T Identity +NM_025114.4:c.5366C>T NP_079390.3:p.Thr1789Ile NC_000012.12:88077916:G:A p.(Thr1789Ile) NC_000012.12:88077916:G:A p.(Thr1789Ile) NC_000012.12:88077916:G:A Identity +NM_001258206.2:c.1957C>T NP_001245135.1:p.Pro653Ser NC_000019.10:6848007:C:T p.(Pro653Ser) NC_000019.10:6848007:C:T p.(Pro653Ser) NC_000019.10:6848007:C:T Identity +NM_001353765.2:c.1426A>C NP_001340694.1:p.Asn476His NC_000002.12:29193456:T:G p.(Asn476His) NC_000002.12:29193456:T:G p.(Asn476His) NC_000002.12:29193456:T:G Identity +NM_001007468.3:c.809T>G NP_001007469.1:p.Phe270Cys NC_000022.11:23825264:T:G p.(Phe270Cys) NC_000022.11:23825264:T:G p.(Phe270Cys) NC_000022.11:23825264:T:G Identity +NM_001278727.2:c.64G>C NP_001265656.1:p.Gly22Arg NC_000019.10:19194009:G:C p.(Gly22Arg) NC_000019.10:19194009:G:C p.(Gly22Arg) NC_000019.10:19194009:G:C Identity +NM_002661.5:c.628A>C NP_002652.2:p.Met210Leu NC_000016.10:81870914:A:C p.(Met210Leu) NC_000016.10:81870914:A:C p.(Met210Leu) NC_000016.10:81870914:A:C Identity +NM_001377273.1:c.3131G>A NP_001364202.1:p.Gly1044Glu NC_000012.12:21844880:C:T p.(Gly1044Glu) NC_000012.12:21844880:C:T p.(Gly1044Glu) NC_000012.12:21844880:C:T Identity +NM_001305275.2:c.3892G>A NP_001292204.1:p.Val1298Ile NC_000001.11:1048151:G:A p.(Val1298Ile) NC_000001.11:1048151:G:A p.(Val1298Ile) NC_000001.11:1048151:G:A Identity +NM_003183.6:c.38C>T NP_003174.3:p.Pro13Leu NC_000002.12:9555567:G:A p.(Pro13Leu) NC_000002.12:9555567:G:A p.(Pro13Leu) NC_000002.12:9555567:G:A Identity +NM_001386339.1:c.1553C>A NP_001373268.1:p.Ala518Asp NC_000011.10:9968387:G:T p.(Ala518Asp) NC_000011.10:9968387:G:T p.(Ala518Asp) NC_000011.10:9968387:G:T Identity +NM_001256789.3:c.5333G>A NP_001243718.1:p.Arg1778His NC_000023.11:49206753:C:T p.(Arg1778His) NC_000023.11:49206753:C:T p.(Arg1778His) NC_000023.11:49206753:C:T Identity +NM_144988.4:c.533T>G NP_659425.1:p.Val178Gly NC_000001.11:94983193:A:C p.(Val178Gly) NC_000001.11:94983193:A:C p.(Val178Gly) NC_000001.11:94983193:A:C Identity +NM_017890.5:c.8788A>C NP_060360.3:p.Asn2930His NC_000008.11:99819502:A:C p.(Asn2930His) NC_000008.11:99819502:A:C p.(Asn2930His) NC_000008.11:99819502:A:C Identity +NM_014141.6:c.1448G>A NP_054860.1:p.Arg483Gln NC_000007.14:147300239:G:A p.(Arg483Gln) NC_000007.14:147300239:G:A p.(Arg483Gln) NC_000007.14:147300239:G:A Identity +NM_001243776.2:c.572C>A NP_001230705.1:p.Thr191Asn NC_000011.10:95817880:C:A p.(Thr191Asn) NC_000011.10:95817880:C:A p.(Thr191Asn) NC_000011.10:95817880:C:A Identity +NM_001130955.2:c.1109G>A NP_001124427.2:p.Arg370His NC_000019.10:7451245:G:A p.(Arg370His) NC_000019.10:7451245:G:A p.(Arg370His) NC_000019.10:7451245:G:A Identity +NM_001195573.1:c.2611G>A NP_001182502.1:p.Asp871Asn NC_000014.9:95107918:C:T p.(Asp871Asn) NC_000014.9:95107918:C:T p.(Asp871Asn) NC_000014.9:95107918:C:T Identity +NM_005732.4:c.1187T>G NP_005723.2:p.Phe396Cys NC_000005.10:132588821:T:G p.(Phe396Cys) NC_000005.10:132588821:T:G p.(Phe396Cys) NC_000005.10:132588821:T:G Identity +NM_001692.4:c.1279C>A NP_001683.2:p.Gln427Lys NC_000002.12:70964765:C:A p.(Gln427Lys) NC_000002.12:70964765:C:A p.(Gln427Lys) NC_000002.12:70964765:C:A Identity +NM_001080522.2:c.1895A>C NP_001073991.2:p.Gln632Pro NC_000004.12:15538028:A:C p.(Gln632Pro) NC_000004.12:15538028:A:C p.(Gln632Pro) NC_000004.12:15538028:A:C Identity +NM_001285829.2:c.94G>T NP_001272758.1:p.Gly32Trp NC_000019.10:33301963:C:A p.(Gly32Trp) NC_000019.10:33301963:C:A p.(Gly32Trp) NC_000019.10:33301963:C:A Identity +NM_001244189.2:c.1649A>G NP_001231118.1:p.Asn550Ser NC_000014.9:58457885:A:G p.(Asn550Ser) NC_000014.9:58457885:A:G p.(Asn550Ser) NC_000014.9:58457885:A:G Identity +NM_015180.6:c.13525C>T NP_055995.4:p.Arg4509Cys NC_000014.9:64125180:C:T p.(Arg4509Cys) NC_000014.9:64125180:C:T p.(Arg4509Cys) NC_000014.9:64125180:C:T Identity +NM_001081676.2:c.1680G>C NP_001075145.1:p.Leu560Phe NC_000002.12:165140989:C:G p.(Leu560Phe) NC_000002.12:165140989:C:G p.(Leu560Phe) NC_000002.12:165140989:C:G Identity +NM_000489.6:c.1952C>G NP_000480.3:p.Ser651Cys NC_000023.11:77683303:G:C p.(Ser651Cys) NC_000023.11:77683303:G:C p.(Ser651Cys) NC_000023.11:77683303:G:C Identity +NM_006267.5:c.612T>G NP_006258.3:p.Asn204Lys NC_000002.12:108735737:T:G p.(Asn204Lys) NC_000002.12:108735737:T:G p.(Asn204Lys) NC_000002.12:108735737:T:G Identity +NM_000059.4:c.6682G>A NP_000050.3:p.Val2228Ile NC_000013.11:32341036:G:A p.(Val2228Ile) NC_000013.11:32341036:G:A p.(Val2228Ile) NC_000013.11:32341036:G:A Identity +NM_001031714.4:c.559G>A NP_001026884.3:p.Gly187Ser NC_000014.9:104703345:G:A p.(Gly187Ser) NC_000014.9:104703345:G:A p.(Gly187Ser) NC_000014.9:104703345:G:A Identity +NM_001347828.2:c.3116C>T NP_001334757.1:p.Ala1039Val NC_000004.12:54290472:C:T p.(Ala1039Val) NC_000004.12:54290472:C:T p.(Ala1039Val) NC_000004.12:54290472:C:T Identity +NM_000038.6:c.8044G>A NP_000029.2:p.Val2682Met NC_000005.10:112843637:G:A p.(Val2682Met) NC_000005.10:112843637:G:A p.(Val2682Met) NC_000005.10:112843637:G:A Identity +NM_000135.4:c.4124C>T NP_000126.2:p.Thr1375Ile NC_000016.10:89739175:G:A p.(Thr1375Ile) NC_000016.10:89739175:G:A p.(Thr1375Ile) NC_000016.10:89739175:G:A Identity +NM_001190709.2:c.2642C>G NP_001177638.1:p.Pro881Arg NC_000001.11:102974878:G:C p.(Pro881Arg) NC_000001.11:102974878:G:C p.(Pro881Arg) NC_000001.11:102974878:G:C Identity +NM_001195622.2:c.1291G>C NP_001182551.1:p.Glu431Gln NC_000009.12:32543038:C:G p.(Glu431Gln) NC_000009.12:32543038:C:G p.(Glu431Gln) NC_000009.12:32543038:C:G Identity +NM_001354609.2:c.41C>T NP_001341538.1:p.Pro14Leu NC_000007.14:140924662:G:A p.(Pro14Leu) NC_000007.14:140924662:G:A p.(Pro14Leu) NC_000007.14:140924662:G:A Identity +NM_001127178.3:c.2383T>C NP_001120650.1:p.Trp795Arg NC_000004.12:530556:T:C p.(Trp795Arg) NC_000004.12:530556:T:C p.(Trp795Arg) NC_000004.12:530556:T:C Identity +NM_001304420.3:c.1238T>C NP_001291349.1:p.Ile413Thr NC_000003.12:57871686:T:C p.(Ile413Thr) NC_000003.12:57871686:T:C p.(Ile413Thr) NC_000003.12:57871686:T:C Identity +NM_002900.3:c.1186C>G NP_002891.1:p.Pro396Ala NC_000010.11:47349669:C:G p.(Pro396Ala) NC_000010.11:47349669:C:G p.(Pro396Ala) NC_000010.11:47349669:C:G Identity +NM_004565.3:c.92C>T NP_004556.1:p.Thr31Met NC_000001.11:10536219:C:T p.(Thr31Met) NC_000001.11:10536219:C:T p.(Thr31Met) NC_000001.11:10536219:C:T Identity +NM_000378.6:c.216G>C NP_000369.4:p.Gln72His NC_000011.10:32435144:C:G p.(Gln72His) NC_000011.10:32435144:C:G p.(Gln72His) NC_000011.10:32435144:C:G Identity +NM_001008844.3:c.5838T>G NP_001008844.1:p.Asp1946Glu NC_000006.12:7584896:T:G p.(Asp1946Glu) NC_000006.12:7584896:T:G p.(Asp1946Glu) NC_000006.12:7584896:T:G Identity +NM_001160302.2:c.3296C>T NP_001153774.1:p.Pro1099Leu NC_000021.9:32645740:G:A p.(Pro1099Leu) NC_000021.9:32645740:G:A p.(Pro1099Leu) NC_000021.9:32645740:G:A Identity +NM_000334.4:c.215C>T NP_000325.4:p.Pro72Leu NC_000017.11:63972626:G:A p.(Pro72Leu) NC_000017.11:63972626:G:A p.(Pro72Leu) NC_000017.11:63972626:G:A Identity +NM_001033559.3:c.1094A>T NP_001028731.1:p.Lys365Ile NC_000015.10:55430732:T:A p.(Lys365Ile) NC_000015.10:55430732:T:A p.(Lys365Ile) NC_000015.10:55430732:T:A Identity +NM_001378454.1:c.9631A>G NP_001365383.1:p.Lys3211Glu NC_000002.12:73519865:A:G p.(Lys3211Glu) NC_000002.12:73519865:A:G p.(Lys3211Glu) NC_000002.12:73519865:A:G Identity +NM_152594.3:c.641G>A NP_689807.1:p.Arg214Gln NC_000015.10:38349479:G:A p.(Arg214Gln) NC_000015.10:38349479:G:A p.(Arg214Gln) NC_000015.10:38349479:G:A Identity +NM_020919.4:c.4478A>C NP_065970.2:p.Tyr1493Ser NC_000002.12:201706947:T:G p.(Tyr1493Ser) NC_000002.12:201706947:T:G p.(Tyr1493Ser) NC_000002.12:201706947:T:G Identity +NM_003079.5:c.1159A>C NP_003070.3:p.Thr387Pro NC_000017.11:40628861:T:G p.(Thr387Pro) NC_000017.11:40628861:T:G p.(Thr387Pro) NC_000017.11:40628861:T:G Identity +NM_004260.4:c.1244A>C NP_004251.4:p.Gln415Pro NC_000008.11:144515777:T:G p.(Gln415Pro) NC_000008.11:144515777:T:G p.(Gln415Pro) NC_000008.11:144515777:T:G Identity +NM_000076.2:c.640C>A NP_000067.1:p.Pro214Thr NC_000011.10:2884849:G:T p.(Pro214Thr) NC_000011.10:2884849:G:T p.(Pro214Thr) NC_000011.10:2884849:G:T Identity +NM_001318872.2:c.80A>G NP_001305801.1:p.His27Arg NC_000006.12:5368649:A:G p.(His27Arg) NC_000006.12:5368649:A:G p.(His27Arg) NC_000006.12:5368649:A:G Identity +NM_000188.3:c.691G>A NP_000179.2:p.Gly231Ser NC_000010.11:69369335:G:A p.(Gly231Ser) NC_000010.11:69369335:G:A p.(Gly231Ser) NC_000010.11:69369335:G:A Identity +NM_001290309.3:c.2386G>C NP_001277238.1:p.Glu796Gln NC_000005.10:138934062:G:C p.(Glu796Gln) NC_000005.10:138934062:G:C p.(Glu796Gln) NC_000005.10:138934062:G:C Identity +NM_001345962.2:c.797G>A NP_001332891.1:p.Gly266Asp NC_000004.12:83462574:C:T p.(Gly266Asp) NC_000004.12:83462574:C:T p.(Gly266Asp) NC_000004.12:83462574:C:T Identity +NM_014714.4:c.886G>A NP_055529.2:p.Gly296Arg NC_000016.10:1587948:C:T p.(Gly296Arg) NC_000016.10:1587948:C:T p.(Gly296Arg) NC_000016.10:1587948:C:T Identity +NM_001256442.2:c.455C>G NP_001243371.1:p.Pro152Arg NC_000016.10:29813508:C:G p.(Pro152Arg) NC_000016.10:29813508:C:G p.(Pro152Arg) NC_000016.10:29813508:C:G Identity +NM_004329.3:c.1347C>G NP_004320.2:p.Ile449Met NC_000010.11:86923379:C:G p.(Ile449Met) NC_000010.11:86923379:C:G p.(Ile449Met) NC_000010.11:86923379:C:G Identity +NM_001171653.2:c.350C>T NP_001165124.1:p.Thr117Ile NC_000002.12:144405005:G:A p.(Thr117Ile) NC_000002.12:144405005:G:A p.(Thr117Ile) NC_000002.12:144405005:G:A Identity +NM_003705.5:c.1606G>A NP_003696.2:p.Val536Met NC_000002.12:171787926:C:T p.(Val536Met) NC_000002.12:171787926:C:T p.(Val536Met) NC_000002.12:171787926:C:T Identity +NM_000038.6:c.6301T>C NP_000029.2:p.Trp2101Arg NC_000005.10:112841894:T:C p.(Trp2101Arg) NC_000005.10:112841894:T:C p.(Trp2101Arg) NC_000005.10:112841894:T:C Identity +NM_000135.4:c.4343T>G NP_000126.2:p.Leu1448Arg NC_000016.10:89738625:A:C p.(Leu1448Arg) NC_000016.10:89738625:A:C p.(Leu1448Arg) NC_000016.10:89738625:A:C Identity +NM_001290307.3:c.1523T>C NP_001277236.1:p.Ile508Thr NC_000005.10:138917874:T:C p.(Ile508Thr) NC_000005.10:138917874:T:C p.(Ile508Thr) NC_000005.10:138917874:T:C Identity +NM_024675.4:c.2596G>A NP_078951.2:p.Gly866Ser NC_000016.10:23626387:C:T p.(Gly866Ser) NC_000016.10:23626387:C:T p.(Gly866Ser) NC_000016.10:23626387:C:T Identity +NM_006231.4:c.5376C>A NP_006222.2:p.Phe1792Leu NC_000012.12:132641648:G:T p.(Phe1792Leu) NC_000012.12:132641648:G:T p.(Phe1792Leu) NC_000012.12:132641648:G:T Identity +NM_001288951.2:c.468C>A NP_001275880.1:p.Asn156Lys NC_000002.12:46956957:C:A p.(Asn156Lys) NC_000002.12:46956957:C:A p.(Asn156Lys) NC_000002.12:46956957:C:A Identity +NM_000535.7:c.1258C>G NP_000526.2:p.Leu420Val NC_000007.14:5987506:G:C p.(Leu420Val) NC_000007.14:5987506:G:C p.(Leu420Val) NC_000007.14:5987506:G:C Identity +NM_001033053.3:c.1652G>C NP_001028225.1:p.Cys551Ser NC_000017.11:5559043:C:G p.(Cys551Ser) NC_000017.11:5559043:C:G p.(Cys551Ser) NC_000017.11:5559043:C:G Identity +NM_001286075.2:c.1433C>T NP_001273004.1:p.Pro478Leu NC_000016.10:28900623:C:T p.(Pro478Leu) NC_000016.10:28900623:C:T p.(Pro478Leu) NC_000016.10:28900623:C:T Identity +NM_001291593.2:c.889C>G NP_001278522.1:p.Pro297Ala NC_000001.11:5887342:G:C p.(Pro297Ala) NC_000001.11:5887342:G:C p.(Pro297Ala) NC_000001.11:5887342:G:C Identity +NM_033071.5:c.17061C>A NP_149062.2:p.His5687Gln NC_000006.12:152308560:G:T p.(His5687Gln) NC_000006.12:152308560:G:T p.(His5687Gln) NC_000006.12:152308560:G:T Identity +NM_001127660.2:c.1257T>G NP_001121132.1:p.Ile419Met NC_000001.11:12004087:T:G p.(Ile419Met) NC_000001.11:12004087:T:G p.(Ile419Met) NC_000001.11:12004087:T:G Identity +NM_003924.4:c.710G>A NP_003915.2:p.Gly237Asp NC_000004.12:41746041:C:T p.(Gly237Asp) NC_000004.12:41746041:C:T p.(Gly237Asp) NC_000004.12:41746041:C:T Identity +NM_001317195.3:c.2083C>T NP_001304124.1:p.Arg695Cys NC_000016.10:68695334:C:T p.(Arg695Cys) NC_000016.10:68695334:C:T p.(Arg695Cys) NC_000016.10:68695334:C:T Identity +NM_001105243.2:c.2336G>A NP_001098713.1:p.Arg779His NC_000023.11:100402662:C:T p.(Arg779His) NC_000023.11:100402662:C:T p.(Arg779His) NC_000023.11:100402662:C:T Identity +NM_000321.3:c.1731G>C NP_000312.2:p.Lys577Asn NC_000013.11:48453027:G:C p.(Lys577Asn) NC_000013.11:48453027:G:C p.(Lys577Asn) NC_000013.11:48453027:G:C Identity +NM_000057.4:c.242C>G NP_000048.1:p.Thr81Arg NC_000015.10:90749509:C:G p.(Thr81Arg) NC_000015.10:90749509:C:G p.(Thr81Arg) NC_000015.10:90749509:C:G Identity +NM_001363227.2:c.667G>C NP_001350156.1:p.Asp223His NC_000008.11:43170617:G:C p.(Asp223His) NC_000008.11:43170617:G:C p.(Asp223His) NC_000008.11:43170617:G:C Identity +NM_001277126.2:c.2363dup NP_001264055.1:p.Met788fs NC_000019.10:53805333:A:AA p.(Met788IlefsTer45) NC_000019.10:53805333:A:AA p.(Met788IlefsTer45) ERR:SPDI Analogous +NM_006204.4:c.130G>T NP_006195.3:p.Val44Phe NC_000010.11:93612854:G:T p.(Val44Phe) NC_000010.11:93612854:G:T p.(Val44Phe) NC_000010.11:93612854:G:T Identity +NM_001160302.2:c.1701G>C NP_001153774.1:p.Lys567Asn NC_000021.9:32673364:C:G p.(Lys567Asn) NC_000021.9:32673364:C:G p.(Lys567Asn) NC_000021.9:32673364:C:G Identity +NM_006371.5:c.1151A>G NP_006362.1:p.Glu384Gly NC_000003.12:33134263:A:G p.(Glu384Gly) NC_000003.12:33134263:A:G p.(Glu384Gly) NC_000003.12:33134263:A:G Identity +NM_000069.3:c.3873G>T NP_000060.2:p.Lys1291Asn NC_000001.11:201052636:C:A p.(Lys1291Asn) NC_000001.11:201052636:C:A p.(Lys1291Asn) NC_000001.11:201052636:C:A Identity +NM_001252020.2:c.2080G>A NP_001238949.1:p.Glu694Lys NC_000015.10:31042008:C:T p.(Glu694Lys) NC_000015.10:31042008:C:T p.(Glu694Lys) NC_000015.10:31042008:C:T Identity +NM_001164507.2:c.7004T>C NP_001157979.2:p.Met2335Thr NC_000002.12:151650796:A:G p.(Met2335Thr) NC_000002.12:151650796:A:G p.(Met2335Thr) NC_000002.12:151650796:A:G Identity +NM_001130955.2:c.1237A>G NP_001124427.2:p.Arg413Gly NC_000019.10:7453573:A:G p.(Arg413Gly) NC_000019.10:7453573:A:G p.(Arg413Gly) NC_000019.10:7453573:A:G Identity +NM_001365536.1:c.2966A>G NP_001352465.1:p.Gln989Arg NC_000002.12:166272783:T:C p.(Gln989Arg) NC_000002.12:166272783:T:C p.(Gln989Arg) NC_000002.12:166272783:T:C Identity +NM_001291593.2:c.887A>T NP_001278522.1:p.Lys296Met NC_000001.11:5887344:T:A p.(Lys296Met) NC_000001.11:5887344:T:A p.(Lys296Met) NC_000001.11:5887344:T:A Identity +NM_032043.3:c.1564T>C NP_114432.2:p.Ser522Pro NC_000017.11:61784333:A:G p.(Ser522Pro) NC_000017.11:61784333:A:G p.(Ser522Pro) NC_000017.11:61784333:A:G Identity +NM_015243.3:c.2089A>G NP_056058.2:p.Lys697Glu NC_000008.11:99156623:A:G p.(Lys697Glu) NC_000008.11:99156623:A:G p.(Lys697Glu) NC_000008.11:99156623:A:G Identity +NM_001195573.1:c.5075A>G NP_001182502.1:p.Tyr1692Cys NC_000014.9:95095844:T:C p.(Tyr1692Cys) NC_000014.9:95095844:T:C p.(Tyr1692Cys) NC_000014.9:95095844:T:C Identity +NM_001281303.2:c.524T>C NP_001268232.1:p.Ile175Thr NC_000009.12:92068001:A:G p.(Ile175Thr) NC_000009.12:92068001:A:G p.(Ile175Thr) NC_000009.12:92068001:A:G Identity +NM_001320715.2:c.649C>T NP_001307644.1:p.Arg217Cys NC_000001.11:85267646:G:A p.(Arg217Cys) NC_000001.11:85267646:G:A p.(Arg217Cys) NC_000001.11:85267646:G:A Identity +NM_005045.4:c.7085C>T NP_005036.2:p.Thr2362Ile NC_000007.14:103539172:G:A p.(Thr2362Ile) NC_000007.14:103539172:G:A p.(Thr2362Ile) NC_000007.14:103539172:G:A Identity +NM_000521.4:c.786G>T NP_000512.2:p.Leu262Phe NC_000005.10:74713519:G:T p.(Leu262Phe) NC_000005.10:74713519:G:T p.(Leu262Phe) NC_000005.10:74713519:G:T Identity +NM_000111.3:c.59C>T NP_000102.1:p.Ala20Val NC_000007.14:107794450:G:A p.(Ala20Val) NC_000007.14:107794450:G:A p.(Ala20Val) NC_000007.14:107794450:G:A Identity +NM_001363813.1:c.1106C>G NP_001350742.1:p.Thr369Ser NC_000017.11:65538296:G:C p.(Thr369Ser) NC_000017.11:65538296:G:C p.(Thr369Ser) NC_000017.11:65538296:G:C Identity +NM_001166280.2:c.1043T>A NP_001159752.1:p.Met348Lys NC_000009.12:110775879:T:A p.(Met348Lys) NC_000009.12:110775879:T:A p.(Met348Lys) NC_000009.12:110775879:T:A Identity +NM_001256850.1:c.101908G>C NP_001243779.1:p.Ala33970Pro NC_000002.12:178528919:C:G p.(Ala33970Pro) NC_000002.12:178528919:C:G p.(Ala33970Pro) NC_000002.12:178528919:C:G Identity +NM_001029883.3:c.955G>A NP_001025054.1:p.Glu319Lys NC_000002.12:29073306:C:T p.(Glu319Lys) NC_000002.12:29073306:C:T p.(Glu319Lys) NC_000002.12:29073306:C:T Identity +NM_001365951.3:c.4338A>C NP_001352880.1:p.Leu1446Phe NC_000001.11:10363315:A:C p.(Leu1446Phe) NC_000001.11:10363315:A:C p.(Leu1446Phe) NC_000001.11:10363315:A:C Identity +NM_001382394.1:c.3646C>T NP_001369323.1:p.Pro1216Ser NC_000002.12:38986158:G:A p.(Pro1216Ser) NC_000002.12:38986158:G:A p.(Pro1216Ser) NC_000002.12:38986158:G:A Identity +NM_017866.6:c.326G>T NP_060336.3:p.Cys109Phe NC_000008.11:73981163:G:T p.(Cys109Phe) NC_000008.11:73981163:G:T p.(Cys109Phe) NC_000008.11:73981163:G:T Identity +NM_001190241.2:c.58C>A NP_001177170.1:p.Pro20Thr NC_000003.12:160366122:G:T p.(Pro20Thr) NC_000003.12:160366122:G:T p.(Pro20Thr) NC_000003.12:160366122:G:T Identity +NM_000540.3:c.9305A>G NP_000531.2:p.Asp3102Gly NC_000019.10:38512315:A:G p.(Asp3102Gly) NC_000019.10:38512315:A:G p.(Asp3102Gly) NC_000019.10:38512315:A:G Identity +NM_001167614.2:c.2642A>G NP_001161086.1:p.Asn881Ser NC_000012.12:65246233:A:G p.(Asn881Ser) NC_000012.12:65246233:A:G p.(Asn881Ser) NC_000012.12:65246233:A:G Identity +NM_001305275.2:c.3236G>T NP_001292204.1:p.Gly1079Val NC_000001.11:1046720:G:T p.(Gly1079Val) NC_000001.11:1046720:G:T p.(Gly1079Val) NC_000001.11:1046720:G:T Identity +NM_014003.4:c.402G>C NP_054722.2:p.Gln134His NC_000016.10:72096899:G:C p.(Gln134His) NC_000016.10:72096899:G:C p.(Gln134His) NC_000016.10:72096899:G:C Identity +NM_001849.4:c.2545T>G NP_001840.3:p.Phe849Val NC_000021.9:46132036:T:G p.(Phe849Val) NC_000021.9:46132036:T:G p.(Phe849Val) NC_000021.9:46132036:T:G Identity +NM_000546.6:c.911C>T NP_000537.3:p.Thr304Ile NC_000017.11:7673708:G:A p.(Thr304Ile) NC_000017.11:7673708:G:A p.(Thr304Ile) NC_000017.11:7673708:G:A Identity +NM_001166280.2:c.1298G>A NP_001159752.1:p.Arg433Gln NC_000009.12:110784985:G:A p.(Arg433Gln) NC_000009.12:110784985:G:A p.(Arg433Gln) NC_000009.12:110784985:G:A Identity +NM_001363227.2:c.1255T>C NP_001350156.1:p.Tyr419His NC_000008.11:43192307:T:C p.(Tyr419His) NC_000008.11:43192307:T:C p.(Tyr419His) NC_000008.11:43192307:T:C Identity +NM_014141.6:c.1523C>T NP_054860.1:p.Ser508Leu NC_000007.14:147395632:C:T p.(Ser508Leu) NC_000007.14:147395632:C:T p.(Ser508Leu) NC_000007.14:147395632:C:T Identity +NM_000551.4:c.531A>T NP_000542.1:p.Arg177Ser NC_000003.12:10149853:A:T p.(Arg177Ser) NC_000003.12:10149853:A:T p.(Arg177Ser) NC_000003.12:10149853:A:T Identity +NM_004523.4:c.2150C>A NP_004514.2:p.Thr717Asn NC_000010.11:92637534:C:A p.(Thr717Asn) NC_000010.11:92637534:C:A p.(Thr717Asn) NC_000010.11:92637534:C:A Identity +NM_000465.4:c.614A>T NP_000456.2:p.Lys205Met NC_000002.12:214781259:T:A p.(Lys205Met) NC_000002.12:214781259:T:A p.(Lys205Met) NC_000002.12:214781259:T:A Identity +NM_000180.4:c.1501A>G NP_000171.1:p.Asn501Asp NC_000017.11:8007462:A:G p.(Asn501Asp) NC_000017.11:8007462:A:G p.(Asn501Asp) NC_000017.11:8007462:A:G Identity +NM_001126336.3:c.1849T>C NP_001119808.1:p.Tyr617His NC_000005.10:83580314:T:C p.(Tyr617His) NC_000005.10:83580314:T:C p.(Tyr617His) NC_000005.10:83580314:T:C Identity +NM_001042399.2:c.571_573del NP_001035858.1:p.Lys191del NC_000012.12:94379018:TTT: p.(Lys191del) NC_000012.12:94379018:TTT: p.(Lys191del) NC_000012.12:94379018:TTT: Identity +NM_173354.5:c.1553C>G NP_775490.2:p.Ala518Gly NC_000021.9:43418450:G:C p.(Ala518Gly) NC_000021.9:43418450:G:C p.(Ala518Gly) NC_000021.9:43418450:G:C Identity +NM_001305275.2:c.1460C>T NP_001292204.1:p.Ala487Val NC_000001.11:1043313:C:T p.(Ala487Val) NC_000001.11:1043313:C:T p.(Ala487Val) NC_000001.11:1043313:C:T Identity +NM_001199107.2:c.1100T>A NP_001186036.1:p.Leu367His NC_000016.10:2498353:T:A p.(Leu367His) NC_000016.10:2498353:T:A p.(Leu367His) NC_000016.10:2498353:T:A Identity +NM_001182.5:c.722A>G NP_001173.2:p.Asn241Ser NC_000005.10:126570832:T:C p.(Asn241Ser) NC_000005.10:126570832:T:C p.(Asn241Ser) NC_000005.10:126570832:T:C Identity +NM_000188.3:c.2510G>A NP_000179.2:p.Gly837Asp NC_000010.11:69398728:G:A p.(Gly837Asp) NC_000010.11:69398728:G:A p.(Gly837Asp) NC_000010.11:69398728:G:A Identity +NM_001031714.4:c.3604T>C NP_001026884.3:p.Ser1202Pro NC_000014.9:104714765:T:C p.(Ser1202Pro) NC_000014.9:104714765:T:C p.(Ser1202Pro) NC_000014.9:104714765:T:C Identity +NM_001190992.2:c.280A>T NP_001177921.1:p.Ser94Cys NC_000003.12:155853717:T:A p.(Ser94Cys) NC_000003.12:155853717:T:A p.(Ser94Cys) NC_000003.12:155853717:T:A Identity +NM_144643.4:c.447A>T NP_653244.2:p.Glu149Asp NC_000004.12:128999773:T:A p.(Glu149Asp) NC_000004.12:128999773:T:A p.(Glu149Asp) NC_000004.12:128999773:T:A Identity +NM_000813.3:c.591T>A NP_000804.1:p.Asn197Lys NC_000005.10:161336719:A:T p.(Asn197Lys) NC_000005.10:161336719:A:T p.(Asn197Lys) NC_000005.10:161336719:A:T Identity +NM_000116.5:c.403A>G NP_000107.1:p.Lys135Glu NC_000023.11:154414132:A:G p.(Lys135Glu) NC_000023.11:154414132:A:G p.(Lys135Glu) NC_000023.11:154414132:A:G Identity +NM_001127396.3:c.769G>A NP_001120868.1:p.Glu257Lys NC_000019.10:7642316:G:A p.(Glu257Lys) NC_000019.10:7642316:G:A p.(Glu257Lys) NC_000019.10:7642316:G:A Identity +NM_001145294.2:c.904C>T NP_001138766.1:p.Pro302Ser NC_000003.12:25736122:G:A p.(Pro302Ser) NC_000003.12:25736122:G:A p.(Pro302Ser) NC_000003.12:25736122:G:A Identity +NM_016247.4:c.3275G>A NP_057331.2:p.Cys1092Tyr NC_000003.12:101231103:C:T p.(Cys1092Tyr) NC_000003.12:101231103:C:T p.(Cys1092Tyr) NC_000003.12:101231103:C:T Identity +NM_001321309.2:c.871G>A NP_001308238.1:p.Ala291Thr NC_000003.12:123733012:C:T p.(Ala291Thr) NC_000003.12:123733012:C:T p.(Ala291Thr) NC_000003.12:123733012:C:T Identity +NM_000751.3:c.281A>G NP_000742.1:p.Glu94Gly NC_000002.12:232528298:A:G p.(Glu94Gly) NC_000002.12:232528298:A:G p.(Glu94Gly) NC_000002.12:232528298:A:G Identity +NM_001099400.2:c.895G>A NP_001092870.1:p.Gly299Arg NC_000007.14:94600787:C:T p.(Gly299Arg) NC_000007.14:94600787:C:T p.(Gly299Arg) NC_000007.14:94600787:C:T Identity +NM_001330578.2:c.2387C>A NP_001317507.1:p.Ala796Glu NC_000013.11:51950115:G:T p.(Ala796Glu) NC_000013.11:51950115:G:T p.(Ala796Glu) NC_000013.11:51950115:G:T Identity +NM_003673.4:c.23G>T NP_003664.1:p.Cys8Phe NC_000017.11:39665381:G:T p.(Cys8Phe) NC_000017.11:39665381:G:T p.(Cys8Phe) NC_000017.11:39665381:G:T Identity +NM_005654.6:c.533C>T NP_005645.1:p.Pro178Leu NC_000005.10:93587985:C:T p.(Pro178Leu) NC_000005.10:93587985:C:T p.(Pro178Leu) NC_000005.10:93587985:C:T Identity +NM_001036.6:c.9287C>T NP_001027.3:p.Thr3096Met NC_000015.10:33785679:C:T p.(Thr3096Met) NC_000015.10:33785679:C:T p.(Thr3096Met) NC_000015.10:33785679:C:T Identity +NM_000245.4:c.3403A>T NP_000236.2:p.Ser1135Cys NC_000007.14:116778837:A:T p.(Ser1135Cys) NC_000007.14:116778837:A:T p.(Ser1135Cys) NC_000007.14:116778837:A:T Identity +NM_152383.5:c.1816C>G NP_689596.4:p.Leu606Val NC_000002.12:232329888:C:G p.(Leu606Val) NC_000002.12:232329888:C:G p.(Leu606Val) NC_000002.12:232329888:C:G Identity +NM_001042473.4:c.151A>G NP_001035938.1:p.Lys51Glu NC_000010.11:27235137:T:C p.(Lys51Glu) NC_000010.11:27235137:T:C p.(Lys51Glu) NC_000010.11:27235137:T:C Identity +NM_000431.4:c.512G>A NP_000422.1:p.Gly171Glu NC_000012.12:109581534:G:A p.(Gly171Glu) NC_000012.12:109581534:G:A p.(Gly171Glu) NC_000012.12:109581534:G:A Identity +NM_002180.3:c.1669C>A NP_002171.2:p.Pro557Thr NC_000011.10:68935334:C:A p.(Pro557Thr) NC_000011.10:68935334:C:A p.(Pro557Thr) NC_000011.10:68935334:C:A Identity +NM_001253815.2:c.1250T>C NP_001240744.1:p.Leu417Pro NC_000008.11:144360926:T:C p.(Leu417Pro) NC_000008.11:144360926:T:C p.(Leu417Pro) NC_000008.11:144360926:T:C Identity +NM_000028.3:c.4492A>G NP_000019.2:p.Lys1498Glu NC_000001.11:99921543:A:G p.(Lys1498Glu) NC_000001.11:99921543:A:G p.(Lys1498Glu) NC_000001.11:99921543:A:G Identity +NM_000368.5:c.2931del NP_000359.1:p.Lys977fs NC_000009.12:132897227:TTTTTT:TTTTT p.(Lys977AsnfsTer29) NC_000009.12:132897227:TTTTTT:TTTTT p.(Lys977AsnfsTer29) NC_000009.12:132897227:T: Analogous +NM_001306193.2:c.1924A>T NP_001293122.1:p.Ile642Phe NC_000023.11:132078047:T:A p.(Ile642Phe) NC_000023.11:132078047:T:A p.(Ile642Phe) NC_000023.11:132078047:T:A Identity +NM_000156.6:c.650C>A NP_000147.1:p.Pro217Gln NC_000019.10:1397419:G:T p.(Pro217Gln) NC_000019.10:1397419:G:T p.(Pro217Gln) NC_000019.10:1397419:G:T Identity +NM_001142463.3:c.979A>G NP_001135935.1:p.Ile327Val NC_000023.11:154770821:A:G p.(Ile327Val) NC_000023.11:154770821:A:G p.(Ile327Val) NC_000023.11:154770821:A:G Identity +NM_004963.4:c.700G>A NP_004954.2:p.Asp234Asn NC_000012.12:14681388:C:T p.(Asp234Asn) NC_000012.12:14681388:C:T p.(Asp234Asn) NC_000012.12:14681388:C:T Identity +NM_001286130.2:c.2689T>C NP_001273059.1:p.Tyr897His NC_000016.10:57903908:A:G p.(Tyr897His) NC_000016.10:57903908:A:G p.(Tyr897His) NC_000016.10:57903908:A:G Identity +NM_004370.6:c.5504T>A NP_004361.3:p.Met1835Lys NC_000006.12:75134745:A:T p.(Met1835Lys) NC_000006.12:75134745:A:T p.(Met1835Lys) NC_000006.12:75134745:A:T Identity +NM_000548.5:c.3401G>C NP_000539.2:p.Gly1134Ala NC_000016.10:2080167:G:C p.(Gly1134Ala) NC_000016.10:2080167:G:C p.(Gly1134Ala) NC_000016.10:2080167:G:C Identity +NM_001316690.1:c.1554G>T NP_001303619.1:p.Gln518His NC_000008.11:60742985:G:T p.(Gln518His) NC_000008.11:60742985:G:T p.(Gln518His) NC_000008.11:60742985:G:T Identity +NM_006267.5:c.673A>G NP_006258.3:p.Lys225Glu NC_000002.12:108736139:A:G p.(Lys225Glu) NC_000002.12:108736139:A:G p.(Lys225Glu) NC_000002.12:108736139:A:G Identity +NM_001271.4:c.3691A>G NP_001262.3:p.Met1231Val NC_000015.10:92997051:A:G p.(Met1231Val) NC_000015.10:92997051:A:G p.(Met1231Val) NC_000015.10:92997051:A:G Identity +NM_001136029.4:c.2492T>C NP_001129501.1:p.Leu831Pro NC_000022.11:31843097:T:C p.(Leu831Pro) NC_000022.11:31843097:T:C p.(Leu831Pro) NC_000022.11:31843097:T:C Identity +NM_015512.5:c.2276A>G NP_056327.4:p.Asn759Ser NC_000003.12:52349056:A:G p.(Asn759Ser) NC_000003.12:52349056:A:G p.(Asn759Ser) NC_000003.12:52349056:A:G Identity +NM_000733.4:c.469G>T NP_000724.1:p.Ala157Ser NC_000011.10:118313822:G:T p.(Ala157Ser) NC_000011.10:118313822:G:T p.(Ala157Ser) NC_000011.10:118313822:G:T Identity +NM_005257.6:c.422C>G NP_005248.2:p.Pro141Arg NC_000018.10:22171565:C:G p.(Pro141Arg) NC_000018.10:22171565:C:G p.(Pro141Arg) NC_000018.10:22171565:C:G Identity +NM_001127649.3:c.310T>A NP_001121121.1:p.Ser104Thr NC_000022.11:18079952:T:A p.(Ser104Thr) NC_000022.11:18079952:T:A p.(Ser104Thr) NC_000022.11:18079952:T:A Identity +NM_003320.5:c.1366A>G NP_003311.2:p.Ile456Val NC_000011.10:8100586:A:G p.(Ile456Val) NC_000011.10:8100586:A:G p.(Ile456Val) NC_000011.10:8100586:A:G Identity +NM_001005407.2:c.2501G>A NP_001005407.1:p.Ser834Asn NC_000016.10:1205162:G:A p.(Ser834Asn) NC_000016.10:1205162:G:A p.(Ser834Asn) NC_000016.10:1205162:G:A Identity +NM_000109.4:c.2777C>A NP_000100.3:p.Thr926Lys NC_000023.11:32484920:G:T p.(Thr926Lys) NC_000023.11:32484920:G:T p.(Thr926Lys) NC_000023.11:32484920:G:T Identity +NM_001257374.3:c.1334A>G NP_001244303.1:p.Asp445Gly NC_000001.11:156137714:A:G p.(Asp445Gly) NC_000001.11:156137714:A:G p.(Asp445Gly) NC_000001.11:156137714:A:G Identity +NM_001130955.2:c.105CTT[1] NP_001124427.2:p.Phe36del NC_000019.10:7440205:TCTTCTT:TCTT p.(Phe36del) NC_000019.10:7440206:C:CTT ERR:Parse ERR:Parse Identity +NM_001256850.1:c.96268A>G NP_001243779.1:p.Thr32090Ala NC_000002.12:178535423:T:C p.(Thr32090Ala) NC_000002.12:178535423:T:C p.(Thr32090Ala) NC_000002.12:178535423:T:C Identity +NM_001081640.2:c.7724C>T NP_001075109.1:p.Pro2575Leu NC_000008.11:47837248:G:A p.(Pro2575Leu) NC_000008.11:47837248:G:A p.(Pro2575Leu) NC_000008.11:47837248:G:A Identity +NM_001039885.3:c.371A>G NP_001034974.1:p.Glu124Gly NC_000019.10:46755820:A:G p.(Glu124Gly) NC_000019.10:46755820:A:G p.(Glu124Gly) NC_000019.10:46755820:A:G Identity +NM_000883.4:c.626C>T NP_000874.2:p.Ser209Leu NC_000007.14:128400492:G:A p.(Ser209Leu) NC_000007.14:128400492:G:A p.(Ser209Leu) NC_000007.14:128400492:G:A Identity +NM_002076.4:c.605A>T NP_002067.1:p.Asp202Val NC_000012.12:64744827:T:A p.(Asp202Val) NC_000012.12:64744827:T:A p.(Asp202Val) NC_000012.12:64744827:T:A Identity +NM_001042385.2:c.1165A>G NP_001035844.1:p.Lys389Glu NC_000002.12:44332460:T:C p.(Lys389Glu) NC_000002.12:44332460:T:C p.(Lys389Glu) NC_000002.12:44332460:T:C Identity +NM_001164507.2:c.11982C>G NP_001157979.2:p.Ile3994Met NC_000002.12:151610551:G:C p.(Ile3994Met) NC_000002.12:151610551:G:C p.(Ile3994Met) NC_000002.12:151610551:G:C Identity +NM_001382235.1:c.2500G>T NP_001369164.1:p.Ala834Ser NC_000020.11:63406816:C:A p.(Ala834Ser) NC_000020.11:63406816:C:A p.(Ala834Ser) NC_000020.11:63406816:C:A Identity +NM_024675.4:c.3524A>G NP_078951.2:p.Gln1175Arg NC_000016.10:23603495:T:C p.(Gln1175Arg) NC_000016.10:23603495:T:C p.(Gln1175Arg) NC_000016.10:23603495:T:C Identity +NM_001166108.2:c.2790C>A NP_001159580.1:p.Phe930Leu NC_000004.12:168915966:C:A p.(Phe930Leu) NC_000004.12:168915966:C:A p.(Phe930Leu) NC_000004.12:168915966:C:A Identity +NM_005045.4:c.2084T>A NP_005036.2:p.Phe695Tyr NC_000007.14:103636453:A:T p.(Phe695Tyr) NC_000007.14:103636453:A:T p.(Phe695Tyr) NC_000007.14:103636453:A:T Identity +NM_007123.6:c.2223T>G NP_009054.6:p.Asp741Glu NC_000001.11:216247170:A:C p.(Asp741Glu) NC_000001.11:216247170:A:C p.(Asp741Glu) NC_000001.11:216247170:A:C Identity +NM_001005505.3:c.438A>T NP_001005505.1:p.Lys146Asn NC_000003.12:50394135:T:A p.(Lys146Asn) NC_000003.12:50394135:T:A p.(Lys146Asn) NC_000003.12:50394135:T:A Identity +NM_032444.4:c.983C>T NP_115820.2:p.Pro328Leu NC_000016.10:3601158:G:A p.(Pro328Leu) NC_000016.10:3601158:G:A p.(Pro328Leu) NC_000016.10:3601158:G:A Identity +NM_001318360.2:c.2004G>T NP_001305289.1:p.Leu668Phe NC_000009.12:108898518:C:A p.(Leu668Phe) NC_000009.12:108898518:C:A p.(Leu668Phe) NC_000009.12:108898518:C:A Identity +NM_014254.3:c.391A>G NP_055069.1:p.Arg131Gly NC_000012.12:63785034:A:G p.(Arg131Gly) NC_000012.12:63785034:A:G p.(Arg131Gly) NC_000012.12:63785034:A:G Identity +NM_020964.3:c.3767A>G NP_066015.2:p.Glu1256Gly NC_000018.10:45913754:T:C p.(Glu1256Gly) NC_000018.10:45913754:T:C p.(Glu1256Gly) NC_000018.10:45913754:T:C Identity +NM_001135639.2:c.581C>T NP_001129111.1:p.Pro194Leu NC_000016.10:57960483:G:A p.(Pro194Leu) NC_000016.10:57960483:G:A p.(Pro194Leu) NC_000016.10:57960483:G:A Identity +NM_001190241.2:c.1763C>T NP_001177170.1:p.Thr588Ile NC_000003.12:160268461:G:A p.(Thr588Ile) NC_000003.12:160268461:G:A p.(Thr588Ile) NC_000003.12:160268461:G:A Identity +NM_000742.4:c.235A>G NP_000733.2:p.Asn79Asp NC_000008.11:27469819:T:C p.(Asn79Asp) NC_000008.11:27469819:T:C p.(Asn79Asp) NC_000008.11:27469819:T:C Identity +NM_001099274.3:c.73G>C NP_001092744.1:p.Gly25Arg NC_000014.9:24242259:C:G p.(Gly25Arg) NC_000014.9:24242259:C:G p.(Gly25Arg) NC_000014.9:24242259:C:G Identity +NM_000368.5:c.1193C>T NP_000359.1:p.Ala398Val NC_000009.12:132910640:G:A p.(Ala398Val) NC_000009.12:132910640:G:A p.(Ala398Val) NC_000009.12:132910640:G:A Identity +NM_003320.5:c.1037A>G NP_003311.2:p.Glu346Gly NC_000011.10:8097411:A:G p.(Glu346Gly) NC_000011.10:8097411:A:G p.(Glu346Gly) NC_000011.10:8097411:A:G Identity +NM_001318193.2:c.12G>C NP_001305122.2:p.Leu4Phe NC_000016.10:2047811:C:G p.(Leu4Phe) NC_000016.10:2047811:C:G p.(Leu4Phe) NC_000016.10:2047811:C:G Identity +NM_000152.5:c.1699A>C NP_000143.2:p.Thr567Pro NC_000017.11:80112044:A:C p.(Thr567Pro) NC_000017.11:80112044:A:C p.(Thr567Pro) NC_000017.11:80112044:A:C Identity +NM_000088.4:c.1351C>G NP_000079.2:p.Pro451Ala NC_000017.11:50195048:G:C p.(Pro451Ala) NC_000017.11:50195048:G:C p.(Pro451Ala) NC_000017.11:50195048:G:C Identity +NM_152309.3:c.509C>T NP_689522.2:p.Pro170Leu NC_000010.11:96656855:G:A p.(Pro170Leu) NC_000010.11:96656855:G:A p.(Pro170Leu) NC_000010.11:96656855:G:A Identity +NM_001293557.2:c.383T>G NP_001280486.1:p.Leu128Arg NC_000016.10:50699877:T:G p.(Leu128Arg) NC_000016.10:50699877:T:G p.(Leu128Arg) NC_000016.10:50699877:T:G Identity +NM_001326358.2:c.172A>C NP_001313287.1:p.Thr58Pro NC_000016.10:77367526:T:G p.(Thr58Pro) NC_000016.10:77367526:T:G p.(Thr58Pro) NC_000016.10:77367526:T:G Identity +NM_000109.4:c.6059T>C NP_000100.3:p.Phe2020Ser NC_000023.11:32310115:A:G p.(Phe2020Ser) NC_000023.11:32310115:A:G p.(Phe2020Ser) NC_000023.11:32310115:A:G Identity +NM_001195573.1:c.3289G>A NP_001182502.1:p.Gly1097Arg NC_000014.9:95104106:C:T p.(Gly1097Arg) NC_000014.9:95104106:C:T p.(Gly1097Arg) NC_000014.9:95104106:C:T Identity +NM_001164665.2:c.4619A>G NP_001158137.1:p.Lys1540Arg NC_000007.14:138869693:T:C p.(Lys1540Arg) NC_000007.14:138869693:T:C p.(Lys1540Arg) NC_000007.14:138869693:T:C Identity +NM_001106.4:c.1148G>A NP_001097.2:p.Arg383His NC_000003.12:38482270:G:A p.(Arg383His) NC_000003.12:38482270:G:A p.(Arg383His) NC_000003.12:38482270:G:A Identity +NM_001330437.2:c.470A>G NP_001317366.1:p.Lys157Arg NC_000012.12:112453331:A:G p.(Lys157Arg) NC_000012.12:112453331:A:G p.(Lys157Arg) NC_000012.12:112453331:A:G Identity +NM_000118.4:c.1171G>C NP_000109.1:p.Asp391His NC_000009.12:127820000:C:G p.(Asp391His) NC_000009.12:127820000:C:G p.(Asp391His) NC_000009.12:127820000:C:G Identity +NM_001014796.3:c.1414G>A NP_001014796.1:p.Asp472Asn NC_000001.11:162770421:G:A p.(Asp472Asn) NC_000001.11:162770421:G:A p.(Asp472Asn) NC_000001.11:162770421:G:A Identity +NM_001567.4:c.3584G>T NP_001558.3:p.Gly1195Val NC_000011.10:72238072:G:T p.(Gly1195Val) NC_000011.10:72238072:G:T p.(Gly1195Val) NC_000011.10:72238072:G:T Identity +NM_022124.6:c.5003G>A NP_071407.4:p.Gly1668Asp NC_000010.11:71777836:G:A p.(Gly1668Asp) NC_000010.11:71777836:G:A p.(Gly1668Asp) NC_000010.11:71777836:G:A Identity +NM_000068.4:c.1972A>G NP_000059.3:p.Ile658Val NC_000019.10:13307798:T:C p.(Ile658Val) NC_000019.10:13307798:T:C p.(Ile658Val) NC_000019.10:13307798:T:C Identity +NM_000629.3:c.919G>A NP_000620.2:p.Val307Ile NC_000021.9:33349220:G:A p.(Val307Ile) NC_000021.9:33349220:G:A p.(Val307Ile) NC_000021.9:33349220:G:A Identity +NM_001256849.1:c.1670C>T NP_001243778.1:p.Ser557Phe NC_000019.10:50407157:C:T p.(Ser557Phe) NC_000019.10:50407157:C:T p.(Ser557Phe) NC_000019.10:50407157:C:T Identity +NM_032119.4:c.13790A>G NP_115495.3:p.Tyr4597Cys NC_000005.10:90788206:A:G p.(Tyr4597Cys) NC_000005.10:90788206:A:G p.(Tyr4597Cys) NC_000005.10:90788206:A:G Identity +NM_001142763.2:c.1618G>T NP_001136235.1:p.Asp540Tyr NC_000010.11:54153280:C:A p.(Asp540Tyr) NC_000010.11:54153280:C:A p.(Asp540Tyr) NC_000010.11:54153280:C:A Identity +NM_001329556.3:c.196C>T NP_001316485.1:p.Pro66Ser NC_000019.10:1495373:C:T p.(Pro66Ser) NC_000019.10:1495373:C:T p.(Pro66Ser) NC_000019.10:1495373:C:T Identity +NM_001195573.1:c.2045C>T NP_001182502.1:p.Pro682Leu NC_000014.9:95112242:G:A p.(Pro682Leu) NC_000014.9:95112242:G:A p.(Pro682Leu) NC_000014.9:95112242:G:A Identity +NM_001004334.4:c.2583G>T NP_001004334.3:p.Glu861Asp NC_000017.11:38330985:C:A p.(Glu861Asp) NC_000017.11:38330985:C:A p.(Glu861Asp) NC_000017.11:38330985:C:A Identity +NM_206933.4:c.15020C>T NP_996816.3:p.Pro5007Leu NC_000001.11:215639186:G:A p.(Pro5007Leu) NC_000001.11:215639186:G:A p.(Pro5007Leu) NC_000001.11:215639186:G:A Identity +NM_014391.3:c.728C>G NP_055206.2:p.Ala243Gly NC_000010.11:90915803:G:C p.(Ala243Gly) NC_000010.11:90915803:G:C p.(Ala243Gly) NC_000010.11:90915803:G:C Identity +NM_001001890.3:c.161T>C NP_001001890.1:p.Val54Ala NC_000021.9:34886951:A:G p.(Val54Ala) NC_000021.9:34886951:A:G p.(Val54Ala) NC_000021.9:34886951:A:G Identity +NM_152468.5:c.1209G>C NP_689681.2:p.Lys403Asn NC_000017.11:78137315:G:C p.(Lys403Asn) NC_000017.11:78137315:G:C p.(Lys403Asn) NC_000017.11:78137315:G:C Identity +NM_000068.4:c.37G>A NP_000059.3:p.Gly13Arg NC_000019.10:13506187:C:T p.(Gly13Arg) NC_000019.10:13506187:C:T p.(Gly13Arg) NC_000019.10:13506187:C:T Identity +NM_000027.4:c.987G>C NP_000018.2:p.Met329Ile NC_000004.12:177431761:C:G p.(Met329Ile) NC_000004.12:177431761:C:G p.(Met329Ile) NC_000004.12:177431761:C:G Identity +NM_001291997.2:c.715A>G NP_001278926.1:p.Met239Val NC_000016.10:78432749:A:G p.(Met239Val) NC_000016.10:78432749:A:G p.(Met239Val) NC_000016.10:78432749:A:G Identity +NM_001195227.2:c.2371T>A NP_001182156.1:p.Phe791Ile NC_000019.10:49200637:T:A p.(Phe791Ile) NC_000019.10:49200637:T:A p.(Phe791Ile) NC_000019.10:49200637:T:A Identity +NM_001252020.2:c.4642C>T NP_001238949.1:p.His1548Tyr NC_000015.10:31002108:G:A p.(His1548Tyr) NC_000015.10:31002108:G:A p.(His1548Tyr) NC_000015.10:31002108:G:A Identity +NM_015243.3:c.2383A>T NP_056058.2:p.Asn795Tyr NC_000008.11:99192924:A:T p.(Asn795Tyr) NC_000008.11:99192924:A:T p.(Asn795Tyr) NC_000008.11:99192924:A:T Identity +NM_001605.3:c.621C>G NP_001596.2:p.Asp207Glu NC_000016.10:70271830:G:C p.(Asp207Glu) NC_000016.10:70271830:G:C p.(Asp207Glu) NC_000016.10:70271830:G:C Identity +NM_001346599.2:c.340G>A NP_001333528.1:p.Val114Met NC_000007.14:105546967:G:A p.(Val114Met) NC_000007.14:105546967:G:A p.(Val114Met) NC_000007.14:105546967:G:A Identity +NM_001723.7:c.7544dup NP_001714.1:p.Gln2516fs NC_000006.12:56615922:T:TT p.(Gln2516AlafsTer6) NC_000006.12:56615922:T:TT p.(Gln2516AlafsTer6) ERR:SPDI Analogous +NM_001282368.2:c.726T>G NP_001269297.1:p.Ser242Arg NC_000006.12:76005461:A:C p.(Ser242Arg) NC_000006.12:76005461:A:C p.(Ser242Arg) NC_000006.12:76005461:A:C Identity +NM_001130455.2:c.1972C>T NP_001123927.1:p.Pro658Ser NC_000002.12:71553844:C:T p.(Pro658Ser) NC_000002.12:71553844:C:T p.(Pro658Ser) NC_000002.12:71553844:C:T Identity +NM_001379277.1:c.2233C>A NP_001366206.1:p.Gln745Lys NC_000007.14:92079720:C:A p.(Gln745Lys) NC_000007.14:92079720:C:A p.(Gln745Lys) NC_000007.14:92079720:C:A Identity +NM_000548.5:c.2102C>T NP_000539.2:p.Ser701Phe NC_000016.10:2072244:C:T p.(Ser701Phe) NC_000016.10:2072244:C:T p.(Ser701Phe) NC_000016.10:2072244:C:T Identity +NM_000440.3:c.1478C>T NP_000431.2:p.Ala493Val NC_000005.10:149896497:G:A p.(Ala493Val) NC_000005.10:149896497:G:A p.(Ala493Val) NC_000005.10:149896497:G:A Identity +NM_001128844.3:c.3446A>G NP_001122316.1:p.Tyr1149Cys NC_000019.10:11030792:A:G p.(Tyr1149Cys) NC_000019.10:11030792:A:G p.(Tyr1149Cys) NC_000019.10:11030792:A:G Identity +NM_001370528.1:c.391G>A NP_001357457.1:p.Glu131Lys NC_000003.12:64159944:C:T p.(Glu131Lys) NC_000003.12:64159944:C:T p.(Glu131Lys) NC_000003.12:64159944:C:T Identity +NM_004946.3:c.278C>T NP_004937.1:p.Thr93Met NC_000005.10:169671130:C:T p.(Thr93Met) NC_000005.10:169671130:C:T p.(Thr93Met) NC_000005.10:169671130:C:T Identity +NM_002335.4:c.1183C>T NP_002326.2:p.Arg395Trp NC_000011.10:68386482:C:T p.(Arg395Trp) NC_000011.10:68386482:C:T p.(Arg395Trp) NC_000011.10:68386482:C:T Identity +NM_001040108.2:c.476G>C NP_001035197.1:p.Arg159Thr NC_000014.9:75049179:C:G p.(Arg159Thr) NC_000014.9:75049179:C:G p.(Arg159Thr) NC_000014.9:75049179:C:G Identity +NM_001318918.2:c.1559C>T NP_001305847.1:p.Pro520Leu NC_000016.10:4337507:C:T p.(Pro520Leu) NC_000016.10:4337507:C:T p.(Pro520Leu) NC_000016.10:4337507:C:T Identity +NM_004523.4:c.26C>G NP_004514.2:p.Ala9Gly NC_000010.11:92593400:C:G p.(Ala9Gly) NC_000010.11:92593400:C:G p.(Ala9Gly) NC_000010.11:92593400:C:G Identity +NM_014244.5:c.2840A>G NP_055059.2:p.His947Arg NC_000005.10:179125090:T:C p.(His947Arg) NC_000005.10:179125090:T:C p.(His947Arg) NC_000005.10:179125090:T:C Identity +NM_000540.3:c.905A>T NP_000531.2:p.Asp302Val NC_000019.10:38448458:A:T p.(Asp302Val) NC_000019.10:38448458:A:T p.(Asp302Val) NC_000019.10:38448458:A:T Identity +NM_000109.4:c.905C>T NP_000100.3:p.Ser302Phe NC_000023.11:32697900:G:A p.(Ser302Phe) NC_000023.11:32697900:G:A p.(Ser302Phe) NC_000023.11:32697900:G:A Identity +NM_014334.4:c.64G>C NP_055149.3:p.Gly22Arg NC_000009.12:109167074:C:G p.(Gly22Arg) NC_000009.12:109167074:C:G p.(Gly22Arg) NC_000009.12:109167074:C:G Identity +NM_000628.5:c.91T>A NP_000619.3:p.Ser31Thr NC_000021.9:33268434:T:A p.(Ser31Thr) NC_000021.9:33268434:T:A p.(Ser31Thr) NC_000021.9:33268434:T:A Identity +NM_001178133.2:c.1003C>T NP_001171604.1:p.Leu335Phe NC_000010.11:102599524:C:T p.(Leu335Phe) NC_000010.11:102599524:C:T p.(Leu335Phe) NC_000010.11:102599524:C:T Identity +NM_020451.3:c.1703C>T NP_065184.2:p.Pro568Leu NC_000001.11:25815647:C:T p.(Pro568Leu) NC_000001.11:25815647:C:T p.? NC_000001.11:25815647:C:T Identity +NM_001282948.2:c.2481G>T NP_001269877.1:p.Gln827His NC_000010.11:63208641:C:A p.(Gln827His) NC_000010.11:63208641:C:A p.(Gln827His) NC_000010.11:63208641:C:A Identity +NM_000536.4:c.80A>G NP_000527.2:p.Gln27Arg NC_000011.10:36594088:T:C p.(Gln27Arg) NC_000011.10:36594088:T:C p.(Gln27Arg) NC_000011.10:36594088:T:C Identity +NM_004562.3:c.848T>C NP_004553.2:p.Leu283Pro NC_000006.12:161785794:A:G p.(Leu283Pro) NC_000006.12:161785794:A:G p.(Leu283Pro) NC_000006.12:161785794:A:G Identity +NM_018848.3:c.130A>C NP_061336.1:p.Lys44Gln NC_000020.11:10413384:T:G p.(Lys44Gln) NC_000020.11:10413384:T:G p.(Lys44Gln) NC_000020.11:10413384:T:G Identity +NM_001165963.4:c.3110C>G NP_001159435.1:p.Ser1037Cys NC_000002.12:166036366:G:C p.(Ser1037Cys) NC_000002.12:166036366:G:C p.(Ser1037Cys) NC_000002.12:166036366:G:C Identity +NM_000501.4:c.338G>A NP_000492.2:p.Gly113Asp NC_000007.14:74042995:G:A p.(Gly113Asp) NC_000007.14:74042995:G:A p.(Gly113Asp) NC_000007.14:74042995:G:A Identity +NM_004656.4:c.1739A>G NP_004647.1:p.Lys580Arg NC_000003.12:52403288:T:C p.(Lys580Arg) NC_000003.12:52403288:T:C p.(Lys580Arg) NC_000003.12:52403288:T:C Identity +NM_001171933.1:c.3118G>A NP_001165404.1:p.Asp1040Asn NC_000010.11:71815050:G:A p.(Asp1040Asn) NC_000010.11:71815050:G:A p.(Asp1040Asn) NC_000010.11:71815050:G:A Identity +NM_033071.5:c.12889G>T NP_149062.2:p.Ala4297Ser NC_000006.12:152331582:C:A p.(Ala4297Ser) NC_000006.12:152331582:C:A p.(Ala4297Ser) NC_000006.12:152331582:C:A Identity +NM_000384.3:c.6487G>A NP_000375.3:p.Ala2163Thr NC_000002.12:21010380:C:T p.(Ala2163Thr) NC_000002.12:21010380:C:T p.(Ala2163Thr) NC_000002.12:21010380:C:T Identity +NM_001193640.2:c.1526C>T NP_001180569.1:p.Thr509Ile NC_000001.11:197421689:C:T p.(Thr509Ile) NC_000001.11:197421689:C:T p.(Thr509Ile) NC_000001.11:197421689:C:T Identity +NM_001378477.3:c.698A>T NP_001365406.2:p.Asn233Ile NC_000023.11:41474165:A:T p.(Asn233Ile) NC_000023.11:41474165:A:T p.(Asn233Ile) NC_000023.11:41474165:A:T Identity +NM_001166280.2:c.821G>A NP_001159752.1:p.Arg274Gln NC_000009.12:110747677:G:A p.(Arg274Gln) NC_000009.12:110747677:G:A p.(Arg274Gln) NC_000009.12:110747677:G:A Identity +NM_002887.4:c.76A>T NP_002878.2:p.Ile26Phe NC_000005.10:168488631:A:T p.(Ile26Phe) NC_000005.10:168488631:A:T p.(Ile26Phe) NC_000005.10:168488631:A:T Identity +NM_001039885.3:c.946C>G NP_001034974.1:p.Pro316Ala NC_000019.10:46756395:C:G p.(Pro316Ala) NC_000019.10:46756395:C:G p.(Pro316Ala) NC_000019.10:46756395:C:G Identity +NM_000038.6:c.7241T>C NP_000029.2:p.Val2414Ala NC_000005.10:112842834:T:C p.(Val2414Ala) NC_000005.10:112842834:T:C p.(Val2414Ala) NC_000005.10:112842834:T:C Identity +NM_001349253.2:c.2713_2719dup NP_001336182.1:p.Leu907fs NC_000003.12:38894648:GGGTCTT:GGGTCTTGGGTCTT p.(Leu907GlnfsTer8) NC_000003.12:38894648:GGGTCTT:GGGTCTTGGGTCTT p.(Leu907GlnfsTer8) ERR:SPDI Analogous +NM_000251.3:c.1321A>G NP_000242.1:p.Thr441Ala NC_000002.12:47445591:A:G p.(Thr441Ala) NC_000002.12:47445591:A:G p.(Thr441Ala) NC_000002.12:47445591:A:G Identity +NM_178170.3:c.2000C>T NP_835464.1:p.Thr667Met NC_000017.11:28741520:C:T p.(Thr667Met) NC_000017.11:28741520:C:T p.(Thr667Met) NC_000017.11:28741520:C:T Identity +NM_001164507.2:c.10312G>A NP_001157979.2:p.Val3438Met NC_000002.12:151627036:C:T p.(Val3438Met) NC_000002.12:151627036:C:T p.(Val3438Met) NC_000002.12:151627036:C:T Identity +NM_001166280.2:c.1325A>C NP_001159752.1:p.Lys442Thr NC_000009.12:110785012:A:C p.(Lys442Thr) NC_000009.12:110785012:A:C p.(Lys442Thr) NC_000009.12:110785012:A:C Identity +NM_000546.6:c.476C>A NP_000537.3:p.Ala159Asp NC_000017.11:7675135:G:T p.(Ala159Asp) NC_000017.11:7675135:G:T p.(Ala159Asp) NC_000017.11:7675135:G:T Identity +NM_024334.3:c.809A>G NP_077310.1:p.Asp270Gly NC_000003.12:14135834:A:G p.(Asp270Gly) NC_000003.12:14135834:A:G p.(Asp270Gly) NC_000003.12:14135834:A:G Identity +NM_002439.5:c.968G>T NP_002430.3:p.Ser323Ile NC_000005.10:80672798:G:T p.(Ser323Ile) NC_000005.10:80672798:G:T p.(Ser323Ile) NC_000005.10:80672798:G:T Identity +NM_001042482.2:c.515A>G NP_001035947.1:p.Tyr172Cys NC_000007.14:144453614:T:C p.(Tyr172Cys) NC_000007.14:144453614:T:C p.(Tyr172Cys) NC_000007.14:144453614:T:C Identity +NM_001256849.1:c.559G>C NP_001243778.1:p.Val187Leu NC_000019.10:50402093:G:C p.(Val187Leu) NC_000019.10:50402093:G:C p.(Val187Leu) NC_000019.10:50402093:G:C Identity +NM_152443.3:c.340G>A NP_689656.2:p.Ala114Thr NC_000014.9:67725250:G:A p.(Ala114Thr) NC_000014.9:67725250:G:A p.(Ala114Thr) NC_000014.9:67725250:G:A Identity +NM_000540.3:c.3787G>T NP_000531.2:p.Val1263Leu NC_000019.10:38473397:G:T p.(Val1263Leu) NC_000019.10:38473397:G:T p.(Val1263Leu) NC_000019.10:38473397:G:T Identity +NM_001128844.3:c.1460A>G NP_001122316.1:p.Lys487Arg NC_000019.10:10994867:A:G p.(Lys487Arg) NC_000019.10:10994867:A:G p.(Lys487Arg) NC_000019.10:10994867:A:G Identity +NM_020461.4:c.3241G>A NP_065194.3:p.Gly1081Arg NC_000022.11:50221117:C:T p.(Gly1081Arg) NC_000022.11:50221117:C:T p.(Gly1081Arg) NC_000022.11:50221117:C:T Identity +NM_002439.5:c.2278G>A NP_002430.3:p.Ala760Thr NC_000005.10:80775717:G:A p.(Ala760Thr) NC_000005.10:80775717:G:A p.(Ala760Thr) NC_000005.10:80775717:G:A Identity +NM_033071.5:c.20220A>T NP_149062.2:p.Leu6740Phe NC_000006.12:152234763:T:A p.(Leu6740Phe) NC_000006.12:152234763:T:A p.(Leu6740Phe) NC_000006.12:152234763:T:A Identity +NM_001288781.1:c.380A>G NP_001275710.1:p.Gln127Arg NC_000014.9:88841116:A:G p.(Gln127Arg) NC_000014.9:88841116:A:G p.(Gln127Arg) NC_000014.9:88841116:A:G Identity +NM_001080522.2:c.1093C>G NP_001073991.2:p.Pro365Ala NC_000004.12:15516699:C:G p.(Pro365Ala) NC_000004.12:15516699:C:G p.(Pro365Ala) NC_000004.12:15516699:C:G Identity +NM_004260.4:c.581G>A NP_004251.4:p.Cys194Tyr NC_000008.11:144516537:C:T p.(Cys194Tyr) NC_000008.11:144516537:C:T p.(Cys194Tyr) NC_000008.11:144516537:C:T Identity +NM_001271427.2:c.2246C>T NP_001258356.1:p.Ala749Val NC_000001.11:19223522:G:A p.(Ala749Val) NC_000001.11:19223522:G:A p.(Ala749Val) NC_000001.11:19223522:G:A Identity +NM_001039958.2:c.496C>T NP_001035047.1:p.Pro166Ser NC_000015.10:89776852:C:T p.(Pro166Ser) NC_000015.10:89776852:C:T p.(Pro166Ser) NC_000015.10:89776852:C:T Identity +NM_001195573.1:c.2300C>T NP_001182502.1:p.Pro767Leu NC_000014.9:95108459:G:A p.(Pro767Leu) NC_000014.9:95108459:G:A p.(Pro767Leu) NC_000014.9:95108459:G:A Identity +NM_001031849.3:c.722C>T NP_001027019.1:p.Pro241Leu NC_000003.12:187256685:G:A p.(Pro241Leu) NC_000003.12:187256685:G:A p.(Pro241Leu) NC_000003.12:187256685:G:A Identity +NM_000050.4:c.965A>G NP_000041.2:p.Tyr322Cys NC_000009.12:130489458:A:G p.(Tyr322Cys) NC_000009.12:130489458:A:G p.(Tyr322Cys) NC_000009.12:130489458:A:G Identity +NM_000540.3:c.8516C>A NP_000531.2:p.Thr2839Lys NC_000019.10:38505920:C:A p.(Thr2839Lys) NC_000019.10:38505920:C:A p.(Thr2839Lys) NC_000019.10:38505920:C:A Identity +NM_000038.6:c.7657A>G NP_000029.2:p.Lys2553Glu NC_000005.10:112843250:A:G p.(Lys2553Glu) NC_000005.10:112843250:A:G p.(Lys2553Glu) NC_000005.10:112843250:A:G Identity +NM_000329.3:c.257C>A NP_000320.1:p.Thr86Asn NC_000001.11:68444871:G:T p.(Thr86Asn) NC_000001.11:68444871:G:T p.(Thr86Asn) NC_000001.11:68444871:G:T Identity +NM_001171653.2:c.3074A>G NP_001165124.1:p.His1025Arg NC_000002.12:144389949:T:C p.(His1025Arg) NC_000002.12:144389949:T:C p.(His1025Arg) NC_000002.12:144389949:T:C Identity +NM_001148.6:c.9656G>T NP_001139.3:p.Ser3219Ile NC_000004.12:113358273:G:T p.(Ser3219Ile) NC_000004.12:113358273:G:T p.(Ser3219Ile) NC_000004.12:113358273:G:T Identity +NM_004260.4:c.1868G>C NP_004251.4:p.Arg623Pro NC_000008.11:144514198:C:G p.(Arg623Pro) NC_000008.11:144514198:C:G p.(Arg623Pro) NC_000008.11:144514198:C:G Identity +NM_001378120.1:c.3770A>T NP_001365049.1:p.Asp1257Val NC_000002.12:148489401:A:T p.(Asp1257Val) NC_000002.12:148489401:A:T p.(Asp1257Val) NC_000002.12:148489401:A:T Identity +NM_033068.3:c.262C>A NP_149059.1:p.Arg88Ser NC_000019.10:50790818:C:A p.(Arg88Ser) NC_000019.10:50790818:C:A p.(Arg88Ser) NC_000019.10:50790818:C:A Identity +NM_001032221.6:c.298C>T NP_001027392.1:p.Arg100Trp NC_000009.12:127660080:C:T p.(Arg100Trp) NC_000009.12:127660080:C:T p.(Arg100Trp) NC_000009.12:127660080:C:T Identity +NM_001082486.2:c.839C>G NP_001075955.2:p.Ala280Gly NC_000016.10:67658352:G:C p.(Ala280Gly) NC_000016.10:67658352:G:C p.(Ala280Gly) NC_000016.10:67658352:G:C Identity +NM_000501.4:c.1858G>C NP_000492.2:p.Gly620Arg NC_000007.14:74063223:G:C p.(Gly620Arg) NC_000007.14:74063223:G:C p.(Gly620Arg) NC_000007.14:74063223:G:C Identity +NM_001286205.2:c.892A>G NP_001273134.1:p.Lys298Glu NC_000016.10:90040428:A:G p.(Lys298Glu) NC_000016.10:90040428:A:G p.(Lys298Glu) NC_000016.10:90040428:A:G Identity +NM_000920.4:c.1234G>A NP_000911.2:p.Ala412Thr NC_000011.10:66863907:C:T p.(Ala412Thr) NC_000011.10:66863907:C:T p.(Ala412Thr) NC_000011.10:66863907:C:T Identity +NM_001166412.2:c.400G>A NP_001159884.1:p.Val134Ile NC_000006.12:168527663:G:A p.(Val134Ile) NC_000006.12:168527663:G:A p.(Val134Ile) NC_000006.12:168527663:G:A Identity +NM_001348170.1:c.466C>G NP_001335099.1:p.Pro156Ala NC_000017.11:75847861:G:C p.(Pro156Ala) NC_000017.11:75847861:G:C p.(Pro156Ala) NC_000017.11:75847861:G:C Identity +NM_001282531.3:c.481G>A NP_001269460.1:p.Glu161Lys NC_000020.11:50894232:C:T p.(Glu161Lys) NC_000020.11:50894232:C:T p.(Glu161Lys) NC_000020.11:50894232:C:T Identity +NM_001167961.2:c.763C>G NP_001161433.1:p.Gln255Glu NC_000007.14:66639124:C:G p.(Gln255Glu) NC_000007.14:66639124:C:G p.(Gln255Glu) NC_000007.14:66639124:C:G Identity +NM_001293735.2:c.182C>A NP_001280664.1:p.Thr61Asn NC_000005.10:131199549:C:A p.(Thr61Asn) NC_000005.10:131199549:C:A p.(Thr61Asn) NC_000005.10:131199549:C:A Identity +NM_001040142.2:c.367A>C NP_001035232.1:p.Ile123Leu NC_000002.12:165297115:A:C p.(Ile123Leu) NC_000002.12:165297115:A:C p.(Ile123Leu) NC_000002.12:165297115:A:C Identity +NM_001286074.2:c.1474A>T NP_001273003.2:p.Met492Leu NC_000023.11:71381855:A:T p.(Met492Leu) NC_000023.11:71381855:A:T p.(Met492Leu) NC_000023.11:71381855:A:T Identity +NM_001145079.2:c.95G>T NP_001138551.1:p.Cys32Phe NC_000013.11:39655820:G:T p.(Cys32Phe) NC_000013.11:39655820:G:T p.(Cys32Phe) NC_000013.11:39655820:G:T Identity +NM_024928.5:c.1100C>T NP_079204.2:p.Ala367Val NC_000010.11:103882690:G:A p.(Ala367Val) NC_000010.11:103882690:G:A p.(Ala367Val) NC_000010.11:103882690:G:A Identity +NM_005562.3:c.343C>T NP_005553.2:p.Arg115Ter NC_000001.11:183215526:C:T p.(Arg115Ter) NC_000001.11:183215526:C:T p.(Arg115Ter) NC_000001.11:183215526:C:T Identity +NM_000548.5:c.146G>A NP_000539.2:p.Ser49Asn NC_000016.10:2050406:G:A p.(Ser49Asn) NC_000016.10:2050406:G:A p.(Ser49Asn) NC_000016.10:2050406:G:A Identity +NM_001037333.3:c.2011A>G NP_001032410.1:p.Asn671Asp NC_000005.10:157326198:A:G p.(Asn671Asp) NC_000005.10:157326198:A:G p.(Asn671Asp) NC_000005.10:157326198:A:G Identity +NM_001329939.2:c.929A>C NP_001316868.1:p.Asn310Thr NC_000014.9:75961073:T:G p.(Asn310Thr) NC_000014.9:75961073:T:G p.(Asn310Thr) NC_000014.9:75961073:T:G Identity +NM_005908.4:c.2180C>T NP_005899.3:p.Ser727Phe NC_000004.12:102635022:G:A p.(Ser727Phe) NC_000004.12:102635022:G:A p.(Ser727Phe) NC_000004.12:102635022:G:A Identity +NM_001270399.2:c.703G>C NP_001257328.1:p.Val235Leu NC_000012.12:49185662:C:G p.(Val235Leu) NC_000012.12:49185662:C:G p.(Val235Leu) NC_000012.12:49185662:C:G Identity +NM_001290307.3:c.732A>G NP_001277236.1:p.Ile244Met NC_000005.10:138824672:A:G p.(Ile244Met) NC_000005.10:138824672:A:G p.(Ile244Met) NC_000005.10:138824672:A:G Identity +NM_007055.4:c.2350G>A NP_008986.2:p.Gly784Ser NC_000010.11:78002205:C:T p.(Gly784Ser) NC_000010.11:78002205:C:T p.(Gly784Ser) NC_000010.11:78002205:C:T Identity +NM_001256545.2:c.1814G>C NP_001243474.1:p.Gly605Ala NC_000005.10:127433482:G:C p.(Gly605Ala) NC_000005.10:127433482:G:C p.(Gly605Ala) NC_000005.10:127433482:G:C Identity +NM_022042.4:c.1231C>T NP_071325.2:p.Arg411Trp NC_000004.12:989707:G:A p.(Arg411Trp) NC_000004.12:989707:G:A p.(Arg411Trp) NC_000004.12:989707:G:A Identity +NM_001287742.2:c.19C>A NP_001274671.1:p.Leu7Ile NC_000008.11:11802850:C:A p.(Leu7Ile) NC_000008.11:11802850:C:A p.(Leu7Ile) NC_000008.11:11802850:C:A Identity +NM_001014763.1:c.244A>C NP_001014763.1:p.Ile82Leu NC_000019.10:51354394:T:G p.(Ile82Leu) NC_000019.10:51354394:T:G p.(Ile82Leu) NC_000019.10:51354394:T:G Identity +NM_001284301.3:c.1868A>G NP_001271230.1:p.Asp623Gly NC_000007.14:36420277:A:G p.(Asp623Gly) NC_000007.14:36420277:A:G p.(Asp623Gly) NC_000007.14:36420277:A:G Identity +NM_001301645.2:c.532T>C NP_001288574.1:p.Ser178Pro NC_000004.12:154744857:T:C p.(Ser178Pro) NC_000004.12:154744857:T:C p.(Ser178Pro) NC_000004.12:154744857:T:C Identity +NM_005188.4:c.710C>T NP_005179.2:p.Ser237Leu NC_000011.10:119273986:C:T p.(Ser237Leu) NC_000011.10:119273986:C:T p.(Ser237Leu) NC_000011.10:119273986:C:T Identity +NM_001099952.4:c.2816G>A NP_001093422.2:p.Gly939Glu NC_000003.12:4676676:G:A p.(Gly939Glu) NC_000003.12:4676676:G:A p.(Gly939Glu) NC_000003.12:4676676:G:A Identity +NM_001291593.2:c.1583T>C NP_001278522.1:p.Phe528Ser NC_000001.11:5874579:A:G p.(Phe528Ser) NC_000001.11:5874579:A:G p.(Phe528Ser) NC_000001.11:5874579:A:G Identity +NM_000875.5:c.236C>T NP_000866.1:p.Thr79Met NC_000015.10:98707702:C:T p.(Thr79Met) NC_000015.10:98707702:C:T p.(Thr79Met) NC_000015.10:98707702:C:T Identity +NM_001291411.2:c.3136G>A NP_001278340.2:p.Glu1046Lys NC_000021.9:33552366:G:A p.(Glu1046Lys) NC_000021.9:33552366:G:A p.(Glu1046Lys) NC_000021.9:33552366:G:A Identity +NM_001083614.2:c.1351G>A NP_001077083.1:p.Gly451Arg NC_000016.10:23529502:C:T p.(Gly451Arg) NC_000016.10:23529502:C:T p.(Gly451Arg) NC_000016.10:23529502:C:T Identity +NM_001103146.3:c.2146A>G NP_001096616.1:p.Thr716Ala NC_000002.12:232815674:A:G p.(Thr716Ala) NC_000002.12:232815674:A:G p.(Thr716Ala) NC_000002.12:232815674:A:G Identity +NM_138694.4:c.5426G>A NP_619639.3:p.Cys1809Tyr NC_000006.12:52017583:C:T p.(Cys1809Tyr) NC_000006.12:52017583:C:T p.(Cys1809Tyr) NC_000006.12:52017583:C:T Identity +NM_001346873.2:c.124A>G NP_001333802.1:p.Thr42Ala NC_000003.12:197718071:T:C p.(Thr42Ala) NC_000003.12:197718071:T:C p.(Thr42Ala) NC_000003.12:197718071:T:C Identity +NM_001351157.2:c.1331C>A NP_001338086.1:p.Thr444Lys NC_000016.10:70695545:G:T p.(Thr444Lys) NC_000016.10:70695545:G:T p.(Thr444Lys) NC_000016.10:70695545:G:T Identity +NM_001286734.2:c.4960G>A NP_001273663.1:p.Glu1654Lys NC_000004.12:103144440:C:T p.(Glu1654Lys) NC_000004.12:103144440:C:T p.(Glu1654Lys) NC_000004.12:103144440:C:T Identity +NM_001127487.2:c.4861A>T NP_001120959.1:p.Ile1621Phe NC_000007.14:128848915:A:T p.(Ile1621Phe) NC_000007.14:128848915:A:T p.(Ile1621Phe) NC_000007.14:128848915:A:T Identity +NM_001160103.2:c.1232C>T NP_001153575.1:p.Pro411Leu NC_000014.9:88578092:C:T p.(Pro411Leu) NC_000014.9:88578092:C:T p.(Pro411Leu) NC_000014.9:88578092:C:T Identity +NM_000719.7:c.694G>C NP_000710.5:p.Asp232His NC_000012.12:2457642:G:C p.(Asp232His) NC_000012.12:2457642:G:C p.(Asp232His) NC_000012.12:2457642:G:C Identity +NM_025193.4:c.557C>T NP_079469.2:p.Thr186Met NC_000016.10:30986864:C:T p.(Thr186Met) NC_000016.10:30986864:C:T p.(Thr186Met) NC_000016.10:30986864:C:T Identity +NM_005559.4:c.3191A>C NP_005550.2:p.Gln1064Pro NC_000018.10:7013986:T:G p.(Gln1064Pro) NC_000018.10:7013986:T:G p.(Gln1064Pro) NC_000018.10:7013986:T:G Identity +NM_001276326.2:c.334G>A NP_001263255.1:p.Asp112Asn NC_000011.10:64591889:G:A p.(Asp112Asn) NC_000011.10:64591889:G:A p.(Asp112Asn) NC_000011.10:64591889:G:A Identity +NM_001148.6:c.10375C>G NP_001139.3:p.Pro3459Ala NC_000004.12:113358992:C:G p.(Pro3459Ala) NC_000004.12:113358992:C:G p.(Pro3459Ala) NC_000004.12:113358992:C:G Identity +NM_014516.4:c.1636A>G NP_055331.1:p.Met546Val NC_000019.10:54152255:A:G p.(Met546Val) NC_000019.10:54152255:A:G p.(Met546Val) NC_000019.10:54152255:A:G Identity +NM_014844.5:c.3979C>T NP_055659.2:p.Arg1327Cys NC_000014.9:102497616:C:T p.(Arg1327Cys) NC_000014.9:102497616:C:T p.(Arg1327Cys) NC_000014.9:102497616:C:T Identity +NM_001349370.3:c.4708A>G NP_001336299.1:p.Ile1570Val NC_000003.12:47103422:T:C p.(Ile1570Val) NC_000003.12:47103422:T:C p.(Ile1570Val) NC_000003.12:47103422:T:C Identity +NM_001363734.1:c.3254C>A NP_001350663.1:p.Ser1085Ter NC_000020.11:32436148:C:A p.(Ser1085Ter) NC_000020.11:32436148:C:A p.(Ser1085Ter) NC_000020.11:32436148:C:A Identity +NM_001329906.2:c.527C>T NP_001316835.1:p.Pro176Leu NC_000010.11:70433053:G:A p.(Pro176Leu) NC_000010.11:70433053:G:A p.(Pro176Leu) NC_000010.11:70433053:G:A Identity +NM_005559.4:c.371T>C NP_005550.2:p.Ile124Thr NC_000018.10:7050910:A:G p.(Ile124Thr) NC_000018.10:7050910:A:G p.(Ile124Thr) NC_000018.10:7050910:A:G Identity +NM_014991.6:c.6619C>G NP_055806.2:p.Leu2207Val NC_000004.12:84737321:G:C p.(Leu2207Val) NC_000004.12:84737321:G:C p.(Leu2207Val) NC_000004.12:84737321:G:C Identity +NM_002473.6:c.901C>T NP_002464.1:p.Arg301Cys NC_000022.11:36320330:G:A p.(Arg301Cys) NC_000022.11:36320330:G:A p.(Arg301Cys) NC_000022.11:36320330:G:A Identity +NM_003221.4:c.1105G>C NP_003212.2:p.Asp369His NC_000006.12:50843113:G:C p.(Asp369His) NC_000006.12:50843113:G:C p.(Asp369His) NC_000006.12:50843113:G:C Identity +NM_000540.3:c.2113G>A NP_000531.2:p.Gly705Arg NC_000019.10:38458237:G:A p.(Gly705Arg) NC_000019.10:38458237:G:A p.(Gly705Arg) NC_000019.10:38458237:G:A Identity +NM_000718.4:c.2636C>A NP_000709.1:p.Pro879His NC_000009.12:138023378:C:A p.(Pro879His) NC_000009.12:138023378:C:A p.(Pro879His) NC_000009.12:138023378:C:A Identity +NM_001099679.2:c.821C>G NP_001093149.1:p.Thr274Ser NC_000009.12:116698562:C:G p.(Thr274Ser) NC_000009.12:116698562:C:G p.(Thr274Ser) NC_000009.12:116698562:C:G Identity +NM_001114377.2:c.872A>G NP_001107849.1:p.His291Arg NC_000023.11:49253192:T:C p.(His291Arg) NC_000023.11:49253192:T:C p.(His291Arg) NC_000023.11:49253192:T:C Identity +NM_001171653.2:c.31C>T NP_001165124.1:p.Arg11Trp NC_000002.12:144517319:G:A p.(Arg11Trp) NC_000002.12:144517319:G:A p.(Arg11Trp) NC_000002.12:144517319:G:A Identity +NM_002160.4:c.2239C>T NP_002151.2:p.Arg747Trp NC_000009.12:115082699:G:A p.(Arg747Trp) NC_000009.12:115082699:G:A p.(Arg747Trp) NC_000009.12:115082699:G:A Identity +NM_022341.2:c.301C>T NP_071736.1:p.Gln101Ter NC_000016.10:69330269:G:A p.(Gln101Ter) NC_000016.10:69330269:G:A p.(Gln101Ter) NC_000016.10:69330269:G:A Identity +NM_133259.4:c.695A>C NP_573566.2:p.Glu232Ala NC_000002.12:43976184:T:G p.(Glu232Ala) NC_000002.12:43976184:T:G p.(Glu232Ala) NC_000002.12:43976184:T:G Identity +NM_001001344.3:c.2158G>C NP_001001344.1:p.Gly720Arg NC_000023.11:153556147:G:C p.(Gly720Arg) NC_000023.11:153556147:G:C p.(Gly720Arg) NC_000023.11:153556147:G:C Identity +NM_004501.3:c.1769A>G NP_004492.2:p.Lys590Arg NC_000001.11:244856542:T:C p.(Lys590Arg) NC_000001.11:244856542:T:C p.(Lys590Arg) NC_000001.11:244856542:T:C Identity +NM_001018037.2:c.6701C>A NP_001018047.1:p.Ser2234Ter NC_000009.12:77340220:C:A p.(Ser2234Ter) NC_000009.12:77340220:C:A p.(Ser2234Ter) NC_000009.12:77340220:C:A Identity +NM_007123.6:c.4056G>A NP_009054.6:p.Trp1352Ter NC_000001.11:216198339:C:T p.(Trp1352Ter) NC_000001.11:216198339:C:T p.(Trp1352Ter) NC_000001.11:216198339:C:T Identity +NM_024678.6:c.436A>G NP_078954.4:p.Arg146Gly NC_000011.10:78566208:T:C p.(Arg146Gly) NC_000011.10:78566208:T:C p.(Arg146Gly) NC_000011.10:78566208:T:C Identity +NM_001004426.3:c.116G>A NP_001004426.1:p.Arg39Gln NC_000022.11:38169310:C:T p.(Arg39Gln) NC_000022.11:38169310:C:T p.(Arg39Gln) NC_000022.11:38169310:C:T Identity +NM_000214.3:c.1724T>C NP_000205.1:p.Ile575Thr NC_000020.11:10647099:A:G p.(Ile575Thr) NC_000020.11:10647099:A:G p.(Ile575Thr) NC_000020.11:10647099:A:G Identity +NM_001306079.2:c.4466C>T NP_001293008.1:p.Ala1489Val NC_000002.12:27237808:C:T p.(Ala1489Val) NC_000002.12:27237808:C:T p.(Ala1489Val) NC_000002.12:27237808:C:T Identity +NM_025077.4:c.1439G>A NP_079353.3:p.Gly480Asp NC_000001.11:45343607:G:A p.(Gly480Asp) NC_000001.11:45343607:G:A p.(Gly480Asp) NC_000001.11:45343607:G:A Identity +NM_001384880.1:c.2114C>T NP_001371809.1:p.Pro705Leu NC_000002.12:190974893:G:A p.(Pro705Leu) NC_000002.12:190974893:G:A p.(Pro705Leu) NC_000002.12:190974893:G:A Identity +NM_001365999.1:c.6010C>G NP_001352928.1:p.Gln2004Glu NC_000001.11:43435304:C:G p.(Gln2004Glu) NC_000001.11:43435304:C:G p.(Gln2004Glu) NC_000001.11:43435304:C:G Identity +NM_001005862.3:c.3242G>A NP_001005862.1:p.Arg1081Gln NC_000017.11:39727466:G:A p.(Arg1081Gln) NC_000017.11:39727466:G:A p.(Arg1081Gln) NC_000017.11:39727466:G:A Identity +NM_016589.4:c.578T>C NP_057673.2:p.Ile193Thr NC_000003.12:119513700:T:C p.(Ile193Thr) NC_000003.12:119513700:T:C p.(Ile193Thr) NC_000003.12:119513700:T:C Identity +NM_001379500.1:c.2822C>T NP_001366429.1:p.Pro941Leu NC_000021.9:45504509:C:T p.(Pro941Leu) NC_000021.9:45504509:C:T p.(Pro941Leu) NC_000021.9:45504509:C:T Identity +NM_001349370.3:c.131T>A NP_001336299.1:p.Phe44Tyr NC_000003.12:47124372:A:T p.(Phe44Tyr) NC_000003.12:47124372:A:T p.(Phe44Tyr) NC_000003.12:47124372:A:T Identity +NM_001079846.1:c.7004C>T NP_001073315.1:p.Pro2335Leu NC_000016.10:3727928:G:A p.(Pro2335Leu) NC_000016.10:3727928:G:A p.(Pro2335Leu) NC_000016.10:3727928:G:A Identity +NM_001033053.3:c.854A>G NP_001028225.1:p.Gln285Arg NC_000017.11:5559841:T:C p.(Gln285Arg) NC_000017.11:5559841:T:C p.(Gln285Arg) NC_000017.11:5559841:T:C Identity +NM_004055.5:c.1343G>A NP_004046.2:p.Ser448Asn NC_000011.10:77120764:G:A p.(Ser448Asn) NC_000011.10:77120764:G:A p.(Ser448Asn) NC_000011.10:77120764:G:A Identity +NM_024753.5:c.2095C>G NP_079029.3:p.Leu699Val NC_000002.12:165915243:G:C p.(Leu699Val) NC_000002.12:165915243:G:C p.(Leu699Val) NC_000002.12:165915243:G:C Identity +LRG_1188t1:c.985G>A LRG_1188p1:p.Val329Ile NC_000007.14:99392871:G:A ERR:Data provider error: ValueError: Transcript LRG_1188t1 not found ERR:Data provider error: ValueError: Transcript LRG_1188t1 not found ERR:AlignmentMapper(tx_ac=LRG_1188t1, alt_ac=LRG_1188t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1188t1, alt_ac=LRG_1188t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1188t1 not found +NM_006494.4:c.41G>A NP_006485.2:p.Trp14Ter NC_000019.10:42250546:C:T p.(Trp14Ter) NC_000019.10:42250546:C:T p.(Trp14Ter) NC_000019.10:42250546:C:T Identity +NM_134261.3:c.140G>C NP_599023.1:p.Arg47Thr NC_000015.10:61229078:C:G p.(Arg47Thr) NC_000015.10:61229078:C:G p.(Arg47Thr) NC_000015.10:61229078:C:G Identity +NM_001350236.2:c.205C>G NP_001337165.1:p.Pro69Ala NC_000011.10:126304284:C:G p.(Pro69Ala) NC_000011.10:126304284:C:G p.(Pro69Ala) NC_000011.10:126304284:C:G Identity +NM_001368062.3:c.3796C>T NP_001354991.2:p.His1266Tyr NC_000012.12:80320549:C:T p.(His1266Tyr) NC_000012.12:80320549:C:T p.(His1266Tyr) NC_000012.12:80320549:C:T Identity +NM_001407571.1:c.1006G>A NP_001394500.1:p.Ala336Thr NC_000017.11:43094311:C:T p.(Ala336Thr) NC_000017.11:43094311:C:T p.(Ala336Thr) NC_000017.11:43094311:C:T Identity +NM_000834.5:c.1783C>A NP_000825.2:p.Pro595Thr NC_000012.12:13608829:G:T p.(Pro595Thr) NC_000012.12:13608829:G:T p.(Pro595Thr) NC_000012.12:13608829:G:T Identity +NM_001282237.2:c.293C>T NP_001269166.1:p.Pro98Leu NC_000014.9:99257601:G:A p.(Pro98Leu) NC_000014.9:99257601:G:A p.(Pro98Leu) NC_000014.9:99257601:G:A Identity +NM_001007188.4:c.530T>G NP_001007189.1:p.Met177Arg NC_000022.11:31783952:T:G p.(Met177Arg) NC_000022.11:31783952:T:G p.(Met177Arg) NC_000022.11:31783952:T:G Identity +NM_001252204.2:c.3059C>T NP_001239133.1:p.Pro1020Leu NC_000006.12:31995443:C:T p.(Pro1020Leu) NC_000006.12:31995443:C:T p.(Pro1020Leu) NC_000006.12:31995443:C:T Identity +NM_001252020.2:c.3899A>C NP_001238949.1:p.Gln1300Pro NC_000015.10:31002851:T:G p.(Gln1300Pro) NC_000015.10:31002851:T:G p.(Gln1300Pro) NC_000015.10:31002851:T:G Identity +NM_144643.4:c.1064A>G NP_653244.2:p.Lys355Arg NC_000004.12:128957107:T:C p.(Lys355Arg) NC_000004.12:128957107:T:C p.(Lys355Arg) NC_000004.12:128957107:T:C Identity +NM_001256850.1:c.98561T>C NP_001243779.1:p.Leu32854Pro NC_000002.12:178533130:A:G p.(Leu32854Pro) NC_000002.12:178533130:A:G p.(Leu32854Pro) NC_000002.12:178533130:A:G Identity +NM_001291285.3:c.4432A>G NP_001278214.1:p.Ile1478Val NC_000004.12:125320842:A:G p.(Ile1478Val) NC_000004.12:125320842:A:G p.(Ile1478Val) NC_000004.12:125320842:A:G Identity +NM_005334.3:c.5053G>A NP_005325.2:p.Val1685Met NC_000023.11:153952047:C:T p.(Val1685Met) NC_000023.11:153952047:C:T p.(Val1685Met) NC_000023.11:153952047:C:T Identity +NM_006063.3:c.22G>A NP_006054.2:p.Ala8Thr NC_000002.12:169509799:G:A p.(Ala8Thr) NC_000002.12:169509799:G:A p.(Ala8Thr) NC_000002.12:169509799:G:A Identity +NM_014014.5:c.6295A>G NP_054733.2:p.Thr2099Ala NC_000002.12:96275127:T:C p.(Thr2099Ala) NC_000002.12:96275127:T:C p.(Thr2099Ala) NC_000002.12:96275127:T:C Identity +NM_000026.4:c.1252G>C NP_000017.1:p.Gly418Arg NC_000022.11:40364939:G:C p.(Gly418Arg) NC_000022.11:40364939:G:C p.(Gly418Arg) NC_000022.11:40364939:G:C Identity +NM_013432.5:c.242A>G NP_038460.4:p.Glu81Gly NC_000008.11:144443903:T:C p.(Glu81Gly) NC_000008.11:144443903:T:C p.(Glu81Gly) NC_000008.11:144443903:T:C Identity +NM_000540.3:c.12889G>C NP_000531.2:p.Val4297Leu NC_000019.10:38565222:G:C p.(Val4297Leu) NC_000019.10:38565222:G:C p.(Val4297Leu) NC_000019.10:38565222:G:C Identity +NM_006295.3:c.1417C>T NP_006286.1:p.Arg473Cys NC_000006.12:31784644:G:A p.(Arg473Cys) NC_000006.12:31784644:G:A p.(Arg473Cys) NC_000006.12:31784644:G:A Identity +NM_006295.3:c.721C>T NP_006286.1:p.Arg241Trp NC_000006.12:31792456:G:A p.(Arg241Trp) NC_000006.12:31792456:G:A p.(Arg241Trp) NC_000006.12:31792456:G:A Identity +NM_001256182.2:c.5543C>T NP_001243111.1:p.Pro1848Leu NC_000016.10:89280998:G:A p.(Pro1848Leu) NC_000016.10:89280998:G:A p.(Pro1848Leu) NC_000016.10:89280998:G:A Identity +NM_001866.3:c.86G>A NP_001857.1:p.Arg29His NC_000023.11:77902687:G:A p.(Arg29His) NC_000023.11:77902687:G:A p.(Arg29His) NC_000023.11:77902687:G:A Identity +NM_001122606.1:c.614_615del NP_001116078.1:p.Val205fs NC_000023.11:120447966:CACA:CA p.(Val205AlafsTer21) NC_000023.11:120447966:CACA:CA p.(Val205AlafsTer21) NC_000023.11:120447966:CA: Analogous +NM_000251.3:c.1775T>C NP_000242.1:p.Met592Thr NC_000002.12:47475039:T:C p.(Met592Thr) NC_000002.12:47475039:T:C p.(Met592Thr) NC_000002.12:47475039:T:C Identity +NM_002471.4:c.493A>T NP_002462.2:p.Met165Leu NC_000014.9:23405231:T:A p.(Met165Leu) NC_000014.9:23405231:T:A p.(Met165Leu) NC_000014.9:23405231:T:A Identity +NM_001304840.3:c.25C>G NP_001291769.1:p.Gln9Glu NC_000002.12:196319796:G:C p.(Gln9Glu) NC_000002.12:196319796:G:C p.(Gln9Glu) NC_000002.12:196319796:G:C Identity +NM_001371986.1:c.3589A>G NP_001358915.1:p.Ile1197Val NC_000002.12:209849584:A:G p.(Ile1197Val) NC_000002.12:209849584:A:G p.(Ile1197Val) NC_000002.12:209849584:A:G Identity +NM_001018037.2:c.5648C>A NP_001018047.1:p.Thr1883Asn NC_000009.12:77321680:C:A p.(Thr1883Asn) NC_000009.12:77321680:C:A p.(Thr1883Asn) NC_000009.12:77321680:C:A Identity +NM_183415.3:c.893G>A NP_904324.1:p.Arg298His NC_000012.12:109498305:G:A p.(Arg298His) NC_000012.12:109498305:G:A p.(Arg298His) NC_000012.12:109498305:G:A Identity +NM_000733.4:c.221A>C NP_000724.1:p.Asn74Thr NC_000011.10:118312734:A:C p.(Asn74Thr) NC_000011.10:118312734:A:C p.(Asn74Thr) NC_000011.10:118312734:A:C Identity +NM_001372065.1:c.3278_3281del NP_001358994.1:p.Lys1093fs NC_000011.10:134168560:TCTTT:T p.(Lys1093ArgfsTer4) NC_000011.10:134168560:TCTTT:T p.(Lys1093ArgfsTer4) NC_000011.10:134168560:TCTT: Analogous +NM_001018088.3:c.1409G>A NP_001018098.1:p.Arg470His NC_000015.10:61991746:C:T p.(Arg470His) NC_000015.10:61991746:C:T p.(Arg470His) NC_000015.10:61991746:C:T Identity +NM_002887.4:c.161G>A NP_002878.2:p.Arg54Gln NC_000005.10:168488716:G:A p.(Arg54Gln) NC_000005.10:168488716:G:A p.(Arg54Gln) NC_000005.10:168488716:G:A Identity +NM_001378183.1:c.3193G>C NP_001365112.1:p.Asp1065His NC_000018.10:10762555:C:G p.(Asp1065His) NC_000018.10:10762555:C:G p.(Asp1065His) NC_000018.10:10762555:C:G Identity +NM_001079846.1:c.3722C>G NP_001073315.1:p.Pro1241Arg NC_000016.10:3749626:G:C p.(Pro1241Arg) NC_000016.10:3749626:G:C p.(Pro1241Arg) NC_000016.10:3749626:G:C Identity +NM_004667.6:c.8614G>C NP_004658.3:p.Asp2872His NC_000015.10:28190999:C:G p.(Asp2872His) NC_000015.10:28190999:C:G p.(Asp2872His) NC_000015.10:28190999:C:G Identity +LRG_1025t2:c.4016C>T LRG_1025p2:p.Thr1339Ile NC_000022.11:42211289:G:A ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found +NM_032195.3:c.6872G>A NP_115571.3:p.Arg2291Gln NC_000021.9:33560090:G:A p.(Arg2291Gln) NC_000021.9:33560090:G:A p.(Arg2291Gln) NC_000021.9:33560090:G:A Identity +NM_000153.4:c.1760T>C NP_000144.2:p.Ile587Thr NC_000014.9:87941468:A:G p.(Ile587Thr) NC_000014.9:87941468:A:G p.(Ile587Thr) NC_000014.9:87941468:A:G Identity +NM_001371928.1:c.787G>A NP_001358857.1:p.Ala263Thr NC_000001.11:27551328:C:T p.(Ala263Thr) NC_000001.11:27551328:C:T p.(Ala263Thr) NC_000001.11:27551328:C:T Identity +NM_001305275.2:c.1702G>A NP_001292204.1:p.Gly568Ser NC_000001.11:1043635:G:A p.(Gly568Ser) NC_000001.11:1043635:G:A p.(Gly568Ser) NC_000001.11:1043635:G:A Identity +NM_006392.4:c.1475A>G NP_006383.2:p.Gln492Arg NC_000020.11:2657983:A:G p.(Gln492Arg) NC_000020.11:2657983:A:G p.(Gln492Arg) NC_000020.11:2657983:A:G Identity +NM_001281503.2:c.707T>C NP_001268432.1:p.Ile236Thr NC_000013.11:83880800:A:G p.(Ile236Thr) NC_000013.11:83880800:A:G p.(Ile236Thr) NC_000013.11:83880800:A:G Identity +NM_007055.4:c.3733C>T NP_008986.2:p.Arg1245Ter NC_000010.11:77982179:G:A p.(Arg1245Ter) NC_000010.11:77982179:G:A p.(Arg1245Ter) NC_000010.11:77982179:G:A Identity +NM_003482.4:c.7938del NP_003473.3:p.Asp2647fs NC_000012.12:49039831:TT:T p.(Asp2647ThrfsTer44) NC_000012.12:49039831:TT:T p.(Asp2647ThrfsTer44) NC_000012.12:49039831:T: Analogous +NM_004074.3:c.171G>T NP_004065.1:p.Trp57Cys NC_000011.10:63976280:G:T p.(Trp57Cys) NC_000011.10:63976280:G:T p.(Trp57Cys) NC_000011.10:63976280:G:T Identity +NM_001080397.3:c.935C>T NP_001073866.3:p.Pro312Leu NC_000001.11:8330427:C:T p.(Pro312Leu) NC_000001.11:8330427:C:T p.(Pro312Leu) NC_000001.11:8330427:C:T Identity +NM_001330609.2:c.1813C>T NP_001317538.1:p.Arg605Cys NC_000008.11:125049127:G:A p.(Arg605Cys) NC_000008.11:125049127:G:A p.(Arg605Cys) NC_000008.11:125049127:G:A Identity +NM_017890.5:c.10459C>G NP_060360.3:p.Leu3487Val NC_000008.11:99853772:C:G p.(Leu3487Val) NC_000008.11:99853772:C:G p.(Leu3487Val) NC_000008.11:99853772:C:G Identity +NM_021942.6:c.518_521del NP_068761.4:p.Phe173fs NC_000004.12:183668069:TTTGTTTGT:TTTGT p.(Phe173TyrfsTer13) NC_000004.12:183668069:TTTGTTTGT:TTTGT p.(Phe173TyrfsTer13) NC_000004.12:183668074:TTGT: Analogous +NM_001077690.1:c.1091A>G NP_001071158.1:p.Gln364Arg NC_000011.10:111840736:T:C p.(Gln364Arg) NC_000011.10:111840736:T:C p.(Gln364Arg) NC_000011.10:111840736:T:C Identity +LRG_1289t1:c.433G>A LRG_1289p1:p.Val145Met NC_000006.12:121447279:G:A ERR:Data provider error: ValueError: Transcript LRG_1289t1 not found ERR:Data provider error: ValueError: Transcript LRG_1289t1 not found ERR:AlignmentMapper(tx_ac=LRG_1289t1, alt_ac=LRG_1289t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1289t1, alt_ac=LRG_1289t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1289t1 not found +NM_001136033.3:c.499C>T NP_001129505.1:p.Gln167Ter NC_000008.11:143818050:G:A p.(Gln167Ter) NC_000008.11:143818050:G:A p.(Gln167Ter) NC_000008.11:143818050:G:A Identity +NM_000527.5:c.780C>A NP_000518.1:p.Asp260Glu NC_000019.10:11106649:C:A p.(Asp260Glu) NC_000019.10:11106649:C:A p.(Asp260Glu) NC_000019.10:11106649:C:A Identity +NM_001168647.3:c.2633C>T NP_001162118.1:p.Ser878Leu NC_000023.11:21648860:C:T p.(Ser878Leu) NC_000023.11:21648860:C:T p.(Ser878Leu) NC_000023.11:21648860:C:T Identity +NM_001288781.1:c.1132C>G NP_001275710.1:p.Leu378Val NC_000014.9:88871582:C:G p.(Leu378Val) NC_000014.9:88871582:C:G p.(Leu378Val) NC_000014.9:88871582:C:G Identity +NM_024675.4:c.557A>C NP_078951.2:p.Asn186Thr NC_000016.10:23635988:T:G p.(Asn186Thr) NC_000016.10:23635988:T:G p.(Asn186Thr) NC_000016.10:23635988:T:G Identity +NM_000059.4:c.4969A>T NP_000050.3:p.Asn1657Tyr NC_000013.11:32339323:A:T p.(Asn1657Tyr) NC_000013.11:32339323:A:T p.(Asn1657Tyr) NC_000013.11:32339323:A:T Identity +NM_017780.4:c.6085C>A NP_060250.2:p.Pro2029Thr NC_000008.11:60852687:C:A p.(Pro2029Thr) NC_000008.11:60852687:C:A p.(Pro2029Thr) NC_000008.11:60852687:C:A Identity +NM_153252.5:c.4705A>G NP_694984.5:p.Thr1569Ala NC_000023.11:80677312:T:C p.(Thr1569Ala) NC_000023.11:80677312:T:C p.(Thr1569Ala) NC_000023.11:80677312:T:C Identity +NM_000744.7:c.198C>A NP_000735.1:p.Phe66Leu NC_000020.11:63359577:G:T p.(Phe66Leu) NC_000020.11:63359577:G:T p.(Phe66Leu) NC_000020.11:63359577:G:T Identity +NM_005993.5:c.131G>C NP_005984.3:p.Arg44Pro NC_000017.11:82752323:G:C p.(Arg44Pro) NC_000017.11:82752323:G:C p.(Arg44Pro) NC_000017.11:82752323:G:C Identity +NM_001014796.3:c.833T>A NP_001014796.1:p.Ile278Asn NC_000001.11:162759956:T:A p.(Ile278Asn) NC_000001.11:162759956:T:A p.(Ile278Asn) NC_000001.11:162759956:T:A Identity +NM_015378.4:c.12227G>A NP_056193.2:p.Gly4076Glu NC_000001.11:12416720:G:A p.(Gly4076Glu) NC_000001.11:12416720:G:A p.(Gly4076Glu) NC_000001.11:12416720:G:A Identity +NM_001039348.3:c.1216G>A NP_001034437.1:p.Val406Met NC_000002.12:55870823:C:T p.(Val406Met) NC_000002.12:55870823:C:T p.(Val406Met) NC_000002.12:55870823:C:T Identity +NM_001014797.3:c.2804G>A NP_001014797.1:p.Arg935His NC_000010.11:76914985:C:T p.(Arg935His) NC_000010.11:76914985:C:T p.(Arg935His) NC_000010.11:76914985:C:T Identity +NM_001134830.2:c.463C>G NP_001128302.1:p.Gln155Glu NC_000006.12:135466099:G:C p.(Gln155Glu) NC_000006.12:135466099:G:C p.(Gln155Glu) NC_000006.12:135466099:G:C Identity +NM_152468.5:c.865C>T NP_689681.2:p.Arg289Trp NC_000017.11:78134441:C:T p.(Arg289Trp) NC_000017.11:78134441:C:T p.(Arg289Trp) NC_000017.11:78134441:C:T Identity +NM_014008.5:c.110C>T NP_054727.1:p.Ala37Val NC_000023.11:49237144:C:T p.(Ala37Val) NC_000023.11:49237144:C:T p.(Ala37Val) NC_000023.11:49237144:C:T Identity +NM_001318520.2:c.1292G>A NP_001305449.1:p.Ser431Asn NC_000018.10:70092679:C:T p.(Ser431Asn) NC_000018.10:70092679:C:T p.(Ser431Asn) NC_000018.10:70092679:C:T Identity +NM_001318520.2:c.3677T>A NP_001305449.1:p.Leu1226Gln NC_000018.10:70017414:A:T p.(Leu1226Gln) NC_000018.10:70017414:A:T p.(Leu1226Gln) NC_000018.10:70017414:A:T Identity +NM_000246.4:c.2377C>G NP_000237.2:p.Leu793Val NC_000016.10:10907868:C:G p.(Leu793Val) NC_000016.10:10907868:C:G p.(Leu793Val) NC_000016.10:10907868:C:G Identity +NM_000540.3:c.2522C>T NP_000531.2:p.Pro841Leu NC_000019.10:38460535:C:T p.(Pro841Leu) NC_000019.10:38460535:C:T p.(Pro841Leu) NC_000019.10:38460535:C:T Identity +NM_001178133.2:c.1021C>G NP_001171604.1:p.Pro341Ala NC_000010.11:102599542:C:G p.(Pro341Ala) NC_000010.11:102599542:C:G p.(Pro341Ala) NC_000010.11:102599542:C:G Identity +NM_001130066.2:c.265C>G NP_001123538.1:p.Pro89Ala NC_000006.12:33425872:C:G p.(Pro89Ala) NC_000006.12:33425872:C:G p.(Pro89Ala) NC_000006.12:33425872:C:G Identity +NM_001256541.2:c.539C>T NP_001243470.1:p.Thr180Met NC_000016.10:1554883:C:T p.(Thr180Met) NC_000016.10:1554883:C:T p.(Thr180Met) NC_000016.10:1554883:C:T Identity +NM_001142763.2:c.3332G>T NP_001136235.1:p.Arg1111Leu NC_000010.11:53938870:C:A p.(Arg1111Leu) NC_000010.11:53938870:C:A p.(Arg1111Leu) NC_000010.11:53938870:C:A Identity +NM_001350234.2:c.2500G>A NP_001337163.1:p.Ala834Thr NC_000001.11:9723200:G:A p.(Ala834Thr) NC_000001.11:9723200:G:A p.(Ala834Thr) NC_000001.11:9723200:G:A Identity +NM_001001523.2:c.319C>G NP_001001523.1:p.Gln107Glu NC_000001.11:151815341:G:C p.(Gln107Glu) NC_000001.11:151815341:G:C p.(Gln107Glu) NC_000001.11:151815341:G:C Identity +NM_001098268.2:c.2422T>C NP_001091738.1:p.Ser808Pro NC_000013.11:108208846:A:G p.(Ser808Pro) NC_000013.11:108208846:A:G p.(Ser808Pro) NC_000013.11:108208846:A:G Identity +NM_001199216.2:c.466G>T NP_001186145.1:p.Gly156Trp NC_000019.10:35299678:G:T p.(Gly156Trp) NC_000019.10:35299678:G:T p.(Gly156Trp) NC_000019.10:35299678:G:T Identity +NM_002667.5:c.61C>T NP_002658.1:p.Pro21Ser NC_000006.12:118558981:C:T p.(Pro21Ser) NC_000006.12:118558981:C:T p.(Pro21Ser) NC_000006.12:118558981:C:T Identity +NM_001018056.3:c.299G>C NP_001018066.1:p.Gly100Ala NC_000009.12:2639954:G:C p.(Gly100Ala) NC_000009.12:2639954:G:C p.(Gly100Ala) NC_000009.12:2639954:G:C Identity +NM_004525.3:c.8494T>A NP_004516.2:p.Ser2832Thr NC_000002.12:169198869:A:T p.(Ser2832Thr) NC_000002.12:169198869:A:T p.(Ser2832Thr) NC_000002.12:169198869:A:T Identity +NM_006393.3:c.1993A>C NP_006384.1:p.Thr665Pro NC_000010.11:20819485:T:G p.(Thr665Pro) NC_000010.11:20819485:T:G p.(Thr665Pro) NC_000010.11:20819485:T:G Identity +NM_001363813.1:c.1855G>A NP_001350742.1:p.Ala619Thr NC_000017.11:65536410:C:T p.(Ala619Thr) NC_000017.11:65536410:C:T p.(Ala619Thr) NC_000017.11:65536410:C:T Identity +NM_001304418.3:c.1213C>G NP_001291347.1:p.Gln405Glu NC_000003.12:69119141:G:C p.(Gln405Glu) NC_000003.12:69119141:G:C p.(Gln405Glu) NC_000003.12:69119141:G:C Identity +NM_001184728.3:c.1561C>G NP_001171657.1:p.Pro521Ala NC_000020.11:45425817:C:G p.(Pro521Ala) NC_000020.11:45425817:C:G p.(Pro521Ala) NC_000020.11:45425817:C:G Identity +NM_001303242.2:c.506C>T NP_001290171.1:p.Ala169Val NC_000001.11:151024780:C:T p.(Ala169Val) NC_000001.11:151024780:C:T p.(Ala169Val) NC_000001.11:151024780:C:T Identity +NM_144508.5:c.3139G>A NP_653091.3:p.Asp1047Asn NC_000015.10:40623402:G:A p.(Asp1047Asn) NC_000015.10:40623402:G:A p.(Asp1047Asn) NC_000015.10:40623402:G:A Identity +NM_001130438.3:c.2422G>T NP_001123910.1:p.Ala808Ser NC_000009.12:128584509:G:T p.(Ala808Ser) NC_000009.12:128584509:G:T p.(Ala808Ser) NC_000009.12:128584509:G:T Identity +NM_001127207.2:c.755T>C NP_001120679.1:p.Ile252Thr NC_000002.12:216415458:T:C p.(Ile252Thr) NC_000002.12:216415458:T:C p.(Ile252Thr) NC_000002.12:216415458:T:C Identity +NM_001098533.3:c.82G>C NP_001092003.2:p.Val28Leu NC_000016.10:89691504:G:C p.(Val28Leu) NC_000016.10:89691504:G:C p.(Val28Leu) NC_000016.10:89691504:G:C Identity +NM_001351694.2:c.112C>T NP_001338623.1:p.Pro38Ser NC_000019.10:39414993:C:T p.(Pro38Ser) NC_000019.10:39414993:C:T p.(Pro38Ser) NC_000019.10:39414993:C:T Identity +NM_001261406.2:c.2264A>G NP_001248335.1:p.Asn755Ser NC_000009.12:13188883:T:C p.(Asn755Ser) NC_000009.12:13188883:T:C p.(Asn755Ser) NC_000009.12:13188883:T:C Identity +NM_001142292.2:c.685G>A NP_001135764.1:p.Val229Ile NC_000002.12:96711880:C:T p.(Val229Ile) NC_000002.12:96711880:C:T p.(Val229Ile) NC_000002.12:96711880:C:T Identity +NM_001324191.2:c.224C>T NP_001311120.1:p.Pro75Leu NC_000020.11:3910691:C:T p.(Pro75Leu) NC_000020.11:3910691:C:T p.(Pro75Leu) NC_000020.11:3910691:C:T Identity +NM_001277115.2:c.12992C>T NP_001264044.1:p.Thr4331Met NC_000007.14:21894941:C:T p.(Thr4331Met) NC_000007.14:21894941:C:T p.(Thr4331Met) NC_000007.14:21894941:C:T Identity +NM_001194937.2:c.83C>T NP_001181866.1:p.Ser28Phe NC_000001.11:151442121:G:A p.(Ser28Phe) NC_000001.11:151442121:G:A p.(Ser28Phe) NC_000001.11:151442121:G:A Identity +NM_015295.3:c.1504C>G NP_056110.2:p.Pro502Ala NC_000018.10:2700774:C:G p.(Pro502Ala) NC_000018.10:2700774:C:G p.(Pro502Ala) NC_000018.10:2700774:C:G Identity +NM_000272.5:c.2101G>A NP_000263.2:p.Ala701Thr NC_000002.12:110123891:C:T p.(Ala701Thr) NC_000002.12:110123891:C:T p.(Ala701Thr) NC_000002.12:110123891:C:T Identity +NM_001257199.2:c.34G>A NP_001244128.1:p.Gly12Arg NC_000012.12:50104083:G:A p.(Gly12Arg) NC_000012.12:50104083:G:A p.(Gly12Arg) NC_000012.12:50104083:G:A Identity +NM_000812.4:c.629A>G NP_000803.2:p.Gln210Arg NC_000004.12:47403401:A:G p.(Gln210Arg) NC_000004.12:47403401:A:G p.(Gln210Arg) NC_000004.12:47403401:A:G Identity +NM_000553.6:c.1432T>C NP_000544.2:p.Ser478Pro NC_000008.11:31087775:T:C p.(Ser478Pro) NC_000008.11:31087775:T:C p.(Ser478Pro) NC_000008.11:31087775:T:C Identity +NM_001127487.2:c.6119G>C NP_001120959.1:p.Gly2040Ala NC_000007.14:128853477:G:C p.(Gly2040Ala) NC_000007.14:128853477:G:C p.(Gly2040Ala) NC_000007.14:128853477:G:C Identity +NM_001080510.5:c.521G>T NP_001073979.3:p.Gly174Val NC_000017.11:76733633:G:T p.(Gly174Val) NC_000017.11:76733633:G:T p.(Gly174Val) NC_000017.11:76733633:G:T Identity +NM_007118.4:c.7222C>G NP_009049.2:p.Pro2408Ala NC_000005.10:14487849:C:G p.(Pro2408Ala) NC_000005.10:14487849:C:G p.(Pro2408Ala) NC_000005.10:14487849:C:G Identity +NM_014362.4:c.529G>C NP_055177.2:p.Asp177His NC_000002.12:190252295:C:G p.(Asp177His) NC_000002.12:190252295:C:G p.(Asp177His) NC_000002.12:190252295:C:G Identity +NM_001271723.2:c.2395C>T NP_001258652.1:p.Arg799Cys NC_000005.10:148439751:C:T p.(Arg799Cys) NC_000005.10:148439751:C:T p.(Arg799Cys) NC_000005.10:148439751:C:T Identity +NM_001164507.2:c.20132G>A NP_001157979.2:p.Arg6711Gln NC_000002.12:151548332:C:T p.(Arg6711Gln) NC_000002.12:151548332:C:T p.(Arg6711Gln) NC_000002.12:151548332:C:T Identity +NM_001277269.2:c.5516C>T NP_001264198.1:p.Ser1839Phe NC_000011.10:17610779:C:T p.(Ser1839Phe) NC_000011.10:17610779:C:T p.(Ser1839Phe) NC_000011.10:17610779:C:T Identity +NM_000175.5:c.1498G>A NP_000166.2:p.Val500Ile NC_000019.10:34399741:G:A p.(Val500Ile) NC_000019.10:34399741:G:A p.(Val500Ile) NC_000019.10:34399741:G:A Identity +NM_000384.3:c.3863C>G NP_000375.3:p.Thr1288Ser NC_000002.12:21013512:G:C p.(Thr1288Ser) NC_000002.12:21013512:G:C p.(Thr1288Ser) NC_000002.12:21013512:G:C Identity +NM_004260.4:c.2594A>G NP_004251.4:p.Glu865Gly NC_000008.11:144513007:T:C p.(Glu865Gly) NC_000008.11:144513007:T:C p.(Glu865Gly) NC_000008.11:144513007:T:C Identity +NM_000038.6:c.6047A>T NP_000029.2:p.Asp2016Val NC_000005.10:112841640:A:T p.(Asp2016Val) NC_000005.10:112841640:A:T p.(Asp2016Val) NC_000005.10:112841640:A:T Identity +NM_001288722.2:c.58CTC[1] NP_001275651.1:p.Leu21del NC_000011.10:62621884:GAGGAGG:GAGG p.(Leu21del) NC_000011.10:62621889:G:GAG ERR:Parse ERR:Parse Identity +NM_001384732.1:c.149T>A NP_001371661.1:p.Ile50Lys NC_000005.10:37245777:A:T p.(Ile50Lys) NC_000005.10:37245777:A:T p.(Ile50Lys) NC_000005.10:37245777:A:T Identity +NM_001347830.2:c.1831G>A NP_001334759.1:p.Val611Ile NC_000004.12:54277392:G:A p.(Val611Ile) NC_000004.12:54277392:G:A p.(Val611Ile) NC_000004.12:54277392:G:A Identity +NM_004370.6:c.5614C>G NP_004361.3:p.Arg1872Gly NC_000006.12:75133907:G:C p.(Arg1872Gly) NC_000006.12:75133907:G:C p.(Arg1872Gly) NC_000006.12:75133907:G:C Identity +NM_000548.5:c.4428G>C NP_000539.2:p.Glu1476Asp NC_000016.10:2084649:G:C p.(Glu1476Asp) NC_000016.10:2084649:G:C p.(Glu1476Asp) NC_000016.10:2084649:G:C Identity +NM_020964.3:c.3799C>G NP_066015.2:p.Pro1267Ala NC_000018.10:45913722:G:C p.(Pro1267Ala) NC_000018.10:45913722:G:C p.(Pro1267Ala) NC_000018.10:45913722:G:C Identity +NM_001267578.2:c.457G>A NP_001254507.1:p.Asp153Asn NC_000001.11:179882958:G:A p.(Asp153Asn) NC_000001.11:179882958:G:A p.(Asp153Asn) NC_000001.11:179882958:G:A Identity +NM_000350.3:c.1087G>A NP_000341.2:p.Asp363Asn NC_000001.11:94080489:C:T p.(Asp363Asn) NC_000001.11:94080489:C:T p.(Asp363Asn) NC_000001.11:94080489:C:T Identity +NM_001358921.2:c.491G>A NP_001345850.1:p.Gly164Glu NC_000004.12:83273546:C:T p.(Gly164Glu) NC_000004.12:83273546:C:T p.(Gly164Glu) NC_000004.12:83273546:C:T Identity +NM_001164507.2:c.19903G>T NP_001157979.2:p.Asp6635Tyr NC_000002.12:151551778:C:A p.(Asp6635Tyr) NC_000002.12:151551778:C:A p.(Asp6635Tyr) NC_000002.12:151551778:C:A Identity +NM_001244008.2:c.5350AGG[1] NP_001230937.1:p.Arg1785del NC_000002.12:240717384:CCTCCT:CCT p.(Arg1785del) NC_000002.12:240717389:T:CCT ERR:Parse ERR:Parse Identity +NM_007118.4:c.8237T>C NP_009049.2:p.Ile2746Thr NC_000005.10:14498544:T:C p.(Ile2746Thr) NC_000005.10:14498544:T:C p.(Ile2746Thr) NC_000005.10:14498544:T:C Identity +NM_001318520.2:c.1766G>A NP_001305449.1:p.Arg589Gln NC_000018.10:70075413:C:T p.(Arg589Gln) NC_000018.10:70075413:C:T p.(Arg589Gln) NC_000018.10:70075413:C:T Identity +NM_001167734.2:c.232C>G NP_001161206.1:p.Gln78Glu NC_000006.12:30914977:C:G p.(Gln78Glu) NC_000006.12:30914977:C:G p.(Gln78Glu) NC_000006.12:30914977:C:G Identity +NM_001174146.2:c.991G>A NP_001167617.1:p.Val331Met NC_000009.12:126695909:G:A p.(Val331Met) NC_000009.12:126695909:G:A p.(Val331Met) NC_000009.12:126695909:G:A Identity +NM_001080467.3:c.3431C>A NP_001073936.1:p.Thr1144Lys NC_000018.10:49875792:G:T p.(Thr1144Lys) NC_000018.10:49875792:G:T p.(Thr1144Lys) NC_000018.10:49875792:G:T Identity +NM_000492.4:c.3498C>G NP_000483.3:p.Phe1166Leu NC_000007.14:117627550:C:G p.(Phe1166Leu) NC_000007.14:117627550:C:G p.(Phe1166Leu) NC_000007.14:117627550:C:G Identity +NM_001289029.2:c.774G>C NP_001275958.1:p.Glu258Asp NC_000016.10:5085667:C:G p.(Glu258Asp) NC_000016.10:5085667:C:G p.(Glu258Asp) NC_000016.10:5085667:C:G Identity +NM_001351273.1:c.5769G>C NP_001338202.1:p.Gln1923His NC_000019.10:1469072:G:C p.(Gln1923His) NC_000019.10:1469072:G:C p.(Gln1923His) NC_000019.10:1469072:G:C Identity +NM_001127178.3:c.908T>C NP_001120650.1:p.Ile303Thr NC_000004.12:515978:T:C p.(Ile303Thr) NC_000004.12:515978:T:C p.(Ile303Thr) NC_000004.12:515978:T:C Identity +NM_001256876.3:c.2020A>G NP_001243805.1:p.Ser674Gly NC_000009.12:712785:A:G p.(Ser674Gly) NC_000009.12:712785:A:G p.(Ser674Gly) NC_000009.12:712785:A:G Identity +NM_021072.4:c.282G>A NP_066550.2:p.Met94Ile NC_000005.10:45695811:C:T p.(Met94Ile) NC_000005.10:45695811:C:T p.(Met94Ile) NC_000005.10:45695811:C:T Identity +NM_001077690.1:c.125G>C NP_001071158.1:p.Arg42Pro NC_000011.10:111871357:C:G p.(Arg42Pro) NC_000011.10:111871357:C:G p.(Arg42Pro) NC_000011.10:111871357:C:G Identity +NM_000569.8:c.145G>A NP_000560.7:p.Gly49Arg NC_000001.11:161548594:C:T p.(Gly49Arg) NC_000001.11:161548594:C:T p.(Gly49Arg) NC_000001.11:161548594:C:T Identity +NM_001039141.3:c.4483G>T NP_001034230.1:p.Glu1495Ter NC_000022.11:37734818:G:T p.(Glu1495Ter) NC_000022.11:37734818:G:T p.(Glu1495Ter) NC_000022.11:37734818:G:T Identity +NM_014908.4:c.1000A>T NP_055723.1:p.Thr334Ser NC_000009.12:128946303:T:A p.(Thr334Ser) NC_000009.12:128946303:T:A p.(Thr334Ser) NC_000009.12:128946303:T:A Identity +NM_001256442.2:c.922C>G NP_001243371.1:p.Arg308Gly NC_000016.10:29814374:C:G p.(Arg308Gly) NC_000016.10:29814374:C:G p.(Arg308Gly) NC_000016.10:29814374:C:G Identity +NM_001083962.2:c.1771C>T NP_001077431.1:p.Leu591Phe NC_000018.10:55228954:G:A p.(Leu591Phe) NC_000018.10:55228954:G:A p.(Leu591Phe) NC_000018.10:55228954:G:A Identity +NM_015425.6:c.2381G>T NP_056240.2:p.Gly794Val NC_000002.12:86052827:C:A p.(Gly794Val) NC_000002.12:86052827:C:A p.(Gly794Val) NC_000002.12:86052827:C:A Identity +NM_001350626.2:c.2308G>C NP_001337555.1:p.Asp770His NC_000007.14:2538406:C:G p.(Asp770His) NC_000007.14:2538406:C:G p.(Asp770His) NC_000007.14:2538406:C:G Identity +NM_003900.5:c.224T>C NP_003891.1:p.Val75Ala NC_000005.10:179822975:T:C p.(Val75Ala) NC_000005.10:179822975:T:C p.(Val75Ala) NC_000005.10:179822975:T:C Identity +NM_001316772.1:c.680T>A NP_001303701.1:p.Met227Lys NC_000007.14:30609690:T:A p.(Met227Lys) NC_000007.14:30609690:T:A p.(Met227Lys) NC_000007.14:30609690:T:A Identity +NM_001256850.1:c.6570dup NP_001243779.1:p.Met2191fs NC_000002.12:178775140:A:AA p.(Met2191TyrfsTer5) NC_000002.12:178775140:A:AA p.(Met2191TyrfsTer5) ERR:SPDI Analogous +NM_015180.6:c.12407C>T NP_055995.4:p.Ser4136Leu NC_000014.9:64101956:C:T p.(Ser4136Leu) NC_000014.9:64101956:C:T p.(Ser4136Leu) NC_000014.9:64101956:C:T Identity +NM_001127178.3:c.1040A>T NP_001120650.1:p.Gln347Leu NC_000004.12:516110:A:T p.(Gln347Leu) NC_000004.12:516110:A:T p.(Gln347Leu) NC_000004.12:516110:A:T Identity +NM_000033.4:c.1246A>G NP_000024.2:p.Thr416Ala NC_000023.11:153736365:A:G p.(Thr416Ala) NC_000023.11:153736365:A:G p.(Thr416Ala) NC_000023.11:153736365:A:G Identity +NM_001385142.1:c.577G>A NP_001372071.1:p.Glu193Lys NC_000014.9:102886194:G:A p.(Glu193Lys) NC_000014.9:102886194:G:A p.(Glu193Lys) NC_000014.9:102886194:G:A Identity +NM_144643.4:c.1670G>A NP_653244.2:p.Arg557His NC_000004.12:128936813:C:T p.(Arg557His) NC_000004.12:128936813:C:T p.(Arg557His) NC_000004.12:128936813:C:T Identity +NM_001142571.2:c.40GAG[1] NP_001136043.1:p.Glu15del NC_000017.11:35119568:CTCCTC:CTC p.(Glu15del) NC_000017.11:35119573:C:CTC ERR:Parse ERR:Parse Identity +NM_001144769.5:c.14327G>T NP_001138241.1:p.Arg4776Leu NC_000006.12:56492299:C:A p.(Arg4776Leu) NC_000006.12:56492299:C:A p.(Arg4776Leu) NC_000006.12:56492299:C:A Identity +NM_000663.5:c.1075A>G NP_000654.2:p.Met359Val NC_000016.10:8775009:A:G p.(Met359Val) NC_000016.10:8775009:A:G p.(Met359Val) NC_000016.10:8775009:A:G Identity +NM_206933.4:c.15506A>G NP_996816.3:p.His5169Arg NC_000001.11:215628826:T:C p.(His5169Arg) NC_000001.11:215628826:T:C p.(His5169Arg) NC_000001.11:215628826:T:C Identity +NM_000391.4:c.1483A>C NP_000382.3:p.Ser495Arg NC_000011.10:6614933:T:G p.(Ser495Arg) NC_000011.10:6614933:T:G p.(Ser495Arg) NC_000011.10:6614933:T:G Identity +NM_001168407.2:c.691C>T NP_001161879.1:p.His231Tyr NC_000006.12:72250356:C:T p.(His231Tyr) NC_000006.12:72250356:C:T p.(His231Tyr) NC_000006.12:72250356:C:T Identity +NM_000548.5:c.2066T>A NP_000539.2:p.Leu689His NC_000016.10:2071902:T:A p.(Leu689His) NC_000016.10:2071902:T:A p.(Leu689His) NC_000016.10:2071902:T:A Identity +NM_001164665.2:c.4099G>T NP_001158137.1:p.Asp1367Tyr NC_000007.14:138881517:C:A p.(Asp1367Tyr) NC_000007.14:138881517:C:A p.(Asp1367Tyr) NC_000007.14:138881517:C:A Identity +NM_005751.5:c.2165A>G NP_005742.4:p.Asn722Ser NC_000007.14:92002081:A:G p.(Asn722Ser) NC_000007.14:92002081:A:G p.(Asn722Ser) NC_000007.14:92002081:A:G Identity +NM_001277155.3:c.523G>C NP_001264084.1:p.Asp175His NC_000001.11:235484476:C:G p.(Asp175His) NC_000001.11:235484476:C:G p.(Asp175His) NC_000001.11:235484476:C:G Identity +NM_012281.3:c.323G>A NP_036413.1:p.Arg108His NC_000007.14:120274954:G:A p.(Arg108His) NC_000007.14:120274954:G:A p.(Arg108His) NC_000007.14:120274954:G:A Identity +NM_001257137.3:c.10A>G NP_001244066.1:p.Ser4Gly NC_000020.11:34393820:A:G p.(Ser4Gly) NC_000020.11:34393820:A:G p.(Ser4Gly) NC_000020.11:34393820:A:G Identity +NM_001005407.2:c.5447C>G NP_001005407.1:p.Ser1816Cys NC_000016.10:1218228:C:G p.(Ser1816Cys) NC_000016.10:1218228:C:G p.(Ser1816Cys) NC_000016.10:1218228:C:G Identity +NM_001278431.2:c.25C>G NP_001265360.1:p.Leu9Val NC_000011.10:119340372:G:C p.(Leu9Val) NC_000011.10:119340372:G:C p.(Leu9Val) NC_000011.10:119340372:G:C Identity +NM_206933.4:c.12910G>A NP_996816.3:p.Glu4304Lys NC_000001.11:215675000:C:T p.(Glu4304Lys) NC_000001.11:215675000:C:T p.(Glu4304Lys) NC_000001.11:215675000:C:T Identity +NM_001271999.2:c.4230G>T NP_001258928.1:p.Met1410Ile NC_000001.11:62513495:C:A p.(Met1410Ile) NC_000001.11:62513495:C:A p.(Met1410Ile) NC_000001.11:62513495:C:A Identity +NM_000465.4:c.827C>G NP_000456.2:p.Thr276Ser NC_000002.12:214781046:G:C p.(Thr276Ser) NC_000002.12:214781046:G:C p.(Thr276Ser) NC_000002.12:214781046:G:C Identity +NM_001354689.3:c.1054C>G NP_001341618.1:p.Pro352Ala NC_000003.12:12599804:G:C p.(Pro352Ala) NC_000003.12:12599804:G:C p.(Pro352Ala) NC_000003.12:12599804:G:C Identity +NM_001382235.1:c.1576T>C NP_001369164.1:p.Cys526Arg NC_000020.11:63414088:A:G p.(Cys526Arg) NC_000020.11:63414088:A:G p.(Cys526Arg) NC_000020.11:63414088:A:G Identity +NM_005751.5:c.4142C>T NP_005742.4:p.Pro1381Leu NC_000007.14:92023002:C:T p.(Pro1381Leu) NC_000007.14:92023002:C:T p.(Pro1381Leu) NC_000007.14:92023002:C:T Identity +NM_002299.4:c.4750G>A NP_002290.2:p.Asp1584Asn NC_000002.12:135800722:C:T p.(Asp1584Asn) NC_000002.12:135800722:C:T p.(Asp1584Asn) NC_000002.12:135800722:C:T Identity +NM_199242.3:c.2241C>A NP_954712.1:p.Ser747Arg NC_000017.11:75834381:G:T p.(Ser747Arg) NC_000017.11:75834381:G:T p.(Ser747Arg) NC_000017.11:75834381:G:T Identity +NM_001271933.2:c.3098G>C NP_001258862.1:p.Ser1033Thr NC_000011.10:117395721:G:C p.(Ser1033Thr) NC_000011.10:117395721:G:C p.(Ser1033Thr) NC_000011.10:117395721:G:C Identity +NM_001308133.2:c.3658T>G NP_001295062.1:p.Leu1220Val NC_000014.9:45176489:T:G p.(Leu1220Val) NC_000014.9:45176489:T:G p.(Leu1220Val) NC_000014.9:45176489:T:G Identity +NM_001082486.2:c.18G>T NP_001075955.2:p.Arg6Ser NC_000016.10:67660202:C:A p.(Arg6Ser) NC_000016.10:67660202:C:A p.(Arg6Ser) NC_000016.10:67660202:C:A Identity +NM_001005360.3:c.733A>G NP_001005360.1:p.Lys245Glu NC_000019.10:10783003:A:G p.(Lys245Glu) NC_000019.10:10783003:A:G p.(Lys245Glu) NC_000019.10:10783003:A:G Identity +NM_032119.4:c.18026G>A NP_115495.3:p.Arg6009Gln NC_000005.10:90985395:G:A p.(Arg6009Gln) NC_000005.10:90985395:G:A p.(Arg6009Gln) NC_000005.10:90985395:G:A Identity +NM_001127487.2:c.7720T>G NP_001120959.1:p.Ser2574Ala NC_000007.14:128858045:T:G p.(Ser2574Ala) NC_000007.14:128858045:T:G p.(Ser2574Ala) NC_000007.14:128858045:T:G Identity +NM_001195573.1:c.4010A>C NP_001182502.1:p.Asp1337Ala NC_000014.9:95103385:T:G p.(Asp1337Ala) NC_000014.9:95103385:T:G p.(Asp1337Ala) NC_000014.9:95103385:T:G Identity +NM_000068.4:c.2681A>G NP_000059.3:p.Glu894Gly NC_000019.10:13298963:T:C p.(Glu894Gly) NC_000019.10:13298963:T:C p.(Glu894Gly) NC_000019.10:13298963:T:C Identity +NM_006267.5:c.1865T>A NP_006258.3:p.Ile622Asn NC_000002.12:108753106:T:A p.(Ile622Asn) NC_000002.12:108753106:T:A p.(Ile622Asn) NC_000002.12:108753106:T:A Identity +NM_032634.4:c.2185C>A NP_116023.2:p.Pro729Thr NC_000009.12:35091701:G:T p.(Pro729Thr) NC_000009.12:35091701:G:T p.(Pro729Thr) NC_000009.12:35091701:G:T Identity +NM_000245.4:c.891G>C NP_000236.2:p.Glu297Asp NC_000007.14:116699974:G:C p.(Glu297Asp) NC_000007.14:116699974:G:C p.(Glu297Asp) NC_000007.14:116699974:G:C Identity +NM_000445.5:c.9244G>A NP_000436.2:p.Val3082Met NC_000008.11:143920657:C:T p.(Val3082Met) NC_000008.11:143920657:C:T p.(Val3082Met) NC_000008.11:143920657:C:T Identity +NM_001002841.2:c.374G>A NP_001002841.1:p.Arg125His NC_000017.11:47221741:G:A p.(Arg125His) NC_000017.11:47221741:G:A p.(Arg125His) NC_000017.11:47221741:G:A Identity +NM_001386500.1:c.1652C>T NP_001373429.1:p.Pro551Leu NC_000001.11:11240436:G:A p.(Pro551Leu) NC_000001.11:11240436:G:A p.(Pro551Leu) NC_000001.11:11240436:G:A Identity +NM_001868.4:c.527C>T NP_001859.1:p.Thr176Met NC_000007.14:130383433:C:T p.(Thr176Met) NC_000007.14:130383433:C:T p.(Thr176Met) NC_000007.14:130383433:C:T Identity +NM_014714.4:c.179G>A NP_055529.2:p.Arg60Lys NC_000016.10:1602559:C:T p.(Arg60Lys) NC_000016.10:1602559:C:T p.(Arg60Lys) NC_000016.10:1602559:C:T Identity +NM_000297.4:c.103_104delinsAA NP_000288.1:p.Ala35Asn NC_000004.12:88007835:GC:AA p.(Ala35Asn) NC_000004.12:88007835:GC:AA p.(Ala35Asn) NC_000004.12:88007835:GC:AA Identity +NM_001385125.1:c.292G>A NP_001372054.1:p.Val98Ile NC_000007.14:128775489:C:T p.(Val98Ile) NC_000007.14:128775489:C:T p.(Val98Ile) NC_000007.14:128775489:C:T Identity +NM_001204824.2:c.148G>A NP_001191753.1:p.Glu50Lys NC_000008.11:132184336:C:T p.(Glu50Lys) NC_000008.11:132184336:C:T p.(Glu50Lys) NC_000008.11:132184336:C:T Identity +NM_018648.4:c.141dup NP_061118.1:p.Ile48fs NC_000015.10:34342021:GG:GGG p.(Ile48HisfsTer22) NC_000015.10:34342021:GG:GGG p.(Ile48HisfsTer22) ERR:SPDI Analogous +NM_152468.5:c.665G>A NP_689681.2:p.Arg222Gln NC_000017.11:78133538:G:A p.(Arg222Gln) NC_000017.11:78133538:G:A p.(Arg222Gln) NC_000017.11:78133538:G:A Identity +NM_000321.3:c.727G>C NP_000312.2:p.Val243Leu NC_000013.11:48362822:G:C p.(Val243Leu) NC_000013.11:48362822:G:C p.(Val243Leu) NC_000013.11:48362822:G:C Identity +NM_001081640.2:c.2081C>T NP_001075109.1:p.Ser694Phe NC_000008.11:47929149:G:A p.(Ser694Phe) NC_000008.11:47929149:G:A p.(Ser694Phe) NC_000008.11:47929149:G:A Identity +NM_058216.3:c.631T>C NP_478123.1:p.Phe211Leu NC_000017.11:58703254:T:C p.(Phe211Leu) NC_000017.11:58703254:T:C p.(Phe211Leu) NC_000017.11:58703254:T:C Identity +NM_000179.3:c.3359A>C NP_000170.1:p.Glu1120Ala NC_000002.12:47803605:A:C p.(Glu1120Ala) NC_000002.12:47803605:A:C p.(Glu1120Ala) NC_000002.12:47803605:A:C Identity +NM_001122606.1:c.554A>G NP_001116078.1:p.Asn185Ser NC_000023.11:120448971:T:C p.(Asn185Ser) NC_000023.11:120448971:T:C p.(Asn185Ser) NC_000023.11:120448971:T:C Identity +NM_001257965.2:c.602C>G NP_001244894.1:p.Pro201Arg NC_000001.11:197344436:C:G p.(Pro201Arg) NC_000001.11:197344436:C:G p.(Pro201Arg) NC_000001.11:197344436:C:G Identity +NM_001144769.5:c.14327G>A NP_001138241.1:p.Arg4776Gln NC_000006.12:56492299:C:T p.(Arg4776Gln) NC_000006.12:56492299:C:T p.(Arg4776Gln) NC_000006.12:56492299:C:T Identity +NM_000234.3:c.1570G>A NP_000225.1:p.Gly524Ser NC_000019.10:48134019:C:T p.(Gly524Ser) NC_000019.10:48134019:C:T p.(Gly524Ser) NC_000019.10:48134019:C:T Identity +NM_001040167.2:c.295G>A NP_001035257.1:p.Ala99Thr NC_000007.14:2520155:G:A p.(Ala99Thr) NC_000007.14:2520155:G:A p.(Ala99Thr) NC_000007.14:2520155:G:A Identity +NM_001353765.2:c.1388G>A NP_001340694.1:p.Gly463Asp NC_000002.12:29193494:C:T p.(Gly463Asp) NC_000002.12:29193494:C:T p.(Gly463Asp) NC_000002.12:29193494:C:T Identity +NM_000059.4:c.6827C>T NP_000050.3:p.Pro2276Leu NC_000013.11:32341181:C:T p.(Pro2276Leu) NC_000013.11:32341181:C:T p.(Pro2276Leu) NC_000013.11:32341181:C:T Identity +NM_000321.3:c.1589A>G NP_000312.2:p.Lys530Arg NC_000013.11:48381336:A:G p.(Lys530Arg) NC_000013.11:48381336:A:G p.(Lys530Arg) NC_000013.11:48381336:A:G Identity +NM_000251.3:c.1996A>G NP_000242.1:p.Ile666Val NC_000002.12:47475260:A:G p.(Ile666Val) NC_000002.12:47475260:A:G p.(Ile666Val) NC_000002.12:47475260:A:G Identity +NM_001293557.2:c.1201G>A NP_001280486.1:p.Ala401Thr NC_000016.10:50711192:G:A p.(Ala401Thr) NC_000016.10:50711192:G:A p.(Ala401Thr) NC_000016.10:50711192:G:A Identity +NM_002296.4:c.1505G>A NP_002287.2:p.Arg502Gln NC_000001.11:225404684:C:T p.(Arg502Gln) NC_000001.11:225404684:C:T p.(Arg502Gln) NC_000001.11:225404684:C:T Identity +NM_001082537.3:c.334G>C NP_001076006.1:p.Val112Leu NC_000012.12:110619948:G:C p.(Val112Leu) NC_000012.12:110619948:G:C p.(Val112Leu) NC_000012.12:110619948:G:C Identity +NM_001195573.1:c.2209C>A NP_001182502.1:p.Pro737Thr NC_000014.9:95111363:G:T p.(Pro737Thr) NC_000014.9:95111363:G:T p.(Pro737Thr) NC_000014.9:95111363:G:T Identity +NM_001293306.2:c.1435T>C NP_001280235.2:p.Ser479Pro NC_000003.12:38755813:A:G p.(Ser479Pro) NC_000003.12:38755813:A:G p.(Ser479Pro) NC_000003.12:38755813:A:G Identity +NM_000095.3:c.1532A>T NP_000086.2:p.Asp511Val NC_000019.10:18785808:T:A p.(Asp511Val) NC_000019.10:18785808:T:A p.(Asp511Val) NC_000019.10:18785808:T:A Identity +NM_000445.5:c.3257C>A NP_000436.2:p.Ala1086Glu NC_000008.11:143929186:G:T p.(Ala1086Glu) NC_000008.11:143929186:G:T p.(Ala1086Glu) NC_000008.11:143929186:G:T Identity +NM_000444.6:c.1850G>T NP_000435.3:p.Cys617Phe NC_000023.11:22221693:G:T p.(Cys617Phe) NC_000023.11:22221693:G:T p.(Cys617Phe) NC_000023.11:22221693:G:T Identity +NM_001385197.1:c.1535G>A NP_001372126.1:p.Gly512Glu NC_000019.10:10362397:C:T p.(Gly512Glu) NC_000019.10:10362397:C:T p.(Gly512Glu) NC_000019.10:10362397:C:T Identity +NM_001609.4:c.20G>T NP_001600.1:p.Arg7Leu NC_000010.11:123009048:G:T p.(Arg7Leu) NC_000010.11:123009048:G:T p.(Arg7Leu) NC_000010.11:123009048:G:T Identity +NM_001256850.1:c.96628A>C NP_001243779.1:p.Lys32210Gln NC_000002.12:178535063:T:G p.(Lys32210Gln) NC_000002.12:178535063:T:G p.(Lys32210Gln) NC_000002.12:178535063:T:G Identity +NM_002335.4:c.1714C>T NP_002326.2:p.His572Tyr NC_000011.10:68403611:C:T p.(His572Tyr) NC_000011.10:68403611:C:T p.(His572Tyr) NC_000011.10:68403611:C:T Identity +NM_000323.2:c.1310A>G NP_000314.1:p.Asn437Ser NC_000010.11:43111252:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000553.6:c.4073G>A NP_000544.2:p.Gly1358Asp NC_000008.11:31167111:G:A p.(Gly1358Asp) NC_000008.11:31167111:G:A p.(Gly1358Asp) NC_000008.11:31167111:G:A Identity +NM_015180.6:c.20569G>A NP_055995.4:p.Glu6857Lys NC_000014.9:64225436:G:A p.(Glu6857Lys) NC_000014.9:64225436:G:A p.(Glu6857Lys) NC_000014.9:64225436:G:A Identity +NM_003373.4:c.709A>G NP_003364.1:p.Met237Val NC_000010.11:74074828:A:G p.(Met237Val) NC_000010.11:74074828:A:G p.(Met237Val) NC_000010.11:74074828:A:G Identity +NM_003482.4:c.15004C>T NP_003473.3:p.Arg5002Trp NC_000012.12:49026961:G:A p.(Arg5002Trp) NC_000012.12:49026961:G:A p.(Arg5002Trp) NC_000012.12:49026961:G:A Identity +NM_001127384.3:c.2041A>G NP_001120856.1:p.Lys681Glu NC_000010.11:66069425:T:C p.(Lys681Glu) NC_000010.11:66069425:T:C p.(Lys681Glu) NC_000010.11:66069425:T:C Identity +NM_001130955.2:c.499T>G NP_001124427.2:p.Tyr167Asp NC_000019.10:7441916:T:G p.(Tyr167Asp) NC_000019.10:7441916:T:G p.(Tyr167Asp) NC_000019.10:7441916:T:G Identity +NM_001271282.3:c.5419G>T NP_001258211.1:p.Ala1807Ser NC_000014.9:95091310:C:A p.(Ala1807Ser) NC_000014.9:95091310:C:A p.(Ala1807Ser) NC_000014.9:95091310:C:A Identity +NM_000335.5:c.4541A>G NP_000326.2:p.Asn1514Ser NC_000003.12:38554547:T:C p.(Asn1514Ser) NC_000003.12:38554547:T:C p.(Asn1514Ser) NC_000003.12:38554547:T:C Identity +NM_001363676.1:c.122A>G NP_001350605.1:p.Glu41Gly NC_000007.14:157363216:A:G p.(Glu41Gly) NC_000007.14:157363216:A:G p.(Glu41Gly) NC_000007.14:157363216:A:G Identity +NM_001185015.2:c.419A>G NP_001171944.1:p.His140Arg NC_000002.12:230212942:T:C p.(His140Arg) NC_000002.12:230212942:T:C p.(His140Arg) NC_000002.12:230212942:T:C Identity +NM_001369369.1:c.685C>T NP_001356298.1:p.Pro229Ser NC_000017.11:28527346:C:T p.(Pro229Ser) NC_000017.11:28527346:C:T p.(Pro229Ser) NC_000017.11:28527346:C:T Identity +NM_005188.4:c.611G>C NP_005179.2:p.Ser204Thr NC_000011.10:119273887:G:C p.(Ser204Thr) NC_000011.10:119273887:G:C p.(Ser204Thr) NC_000011.10:119273887:G:C Identity +NM_001042594.2:c.460G>A NP_001036059.1:p.Val154Met NC_000007.14:124852987:C:T p.(Val154Met) NC_000007.14:124852987:C:T p.(Val154Met) NC_000007.14:124852987:C:T Identity +NM_001330660.2:c.752G>A NP_001317589.1:p.Arg251His NC_000009.12:35741705:C:T p.(Arg251His) NC_000009.12:35741705:C:T p.(Arg251His) NC_000009.12:35741705:C:T Identity +NM_001164098.2:c.1960G>A NP_001157570.1:p.Glu654Lys NC_000005.10:83520265:G:A p.(Glu654Lys) NC_000005.10:83520265:G:A p.(Glu654Lys) NC_000005.10:83520265:G:A Identity +NM_032119.4:c.5713A>G NP_115495.3:p.Ile1905Val NC_000005.10:90683633:A:G p.(Ile1905Val) NC_000005.10:90683633:A:G p.(Ile1905Val) NC_000005.10:90683633:A:G Identity +NM_005530.3:c.982G>A NP_005521.1:p.Glu328Lys NC_000015.10:78166266:G:A p.(Glu328Lys) NC_000015.10:78166266:G:A p.(Glu328Lys) NC_000015.10:78166266:G:A Identity +NM_001040613.3:c.275G>T NP_001035703.1:p.Gly92Val NC_000008.11:73978819:G:T p.(Gly92Val) NC_000008.11:73978819:G:T p.(Gly92Val) NC_000008.11:73978819:G:T Identity +NM_006218.4:c.2042G>C NP_006209.2:p.Ser681Thr NC_000003.12:179221011:G:C p.(Ser681Thr) NC_000003.12:179221011:G:C p.(Ser681Thr) NC_000003.12:179221011:G:C Identity +NM_005045.4:c.9715G>A NP_005036.2:p.Gly3239Arg NC_000007.14:103489789:C:T p.(Gly3239Arg) NC_000007.14:103489789:C:T p.(Gly3239Arg) NC_000007.14:103489789:C:T Identity +NM_000663.5:c.619G>A NP_000654.2:p.Asp207Asn NC_000016.10:8768207:G:A p.(Asp207Asn) NC_000016.10:8768207:G:A p.(Asp207Asn) NC_000016.10:8768207:G:A Identity +NM_016247.4:c.857G>A NP_057331.2:p.Gly286Asp NC_000003.12:101269544:C:T p.(Gly286Asp) NC_000003.12:101269544:C:T p.(Gly286Asp) NC_000003.12:101269544:C:T Identity +NM_001849.4:c.2317T>C NP_001840.3:p.Tyr773His NC_000021.9:46126131:T:C p.(Tyr773His) NC_000021.9:46126131:T:C p.(Tyr773His) NC_000021.9:46126131:T:C Identity +NM_001006658.3:c.1798G>A NP_001006659.1:p.Val600Ile NC_000001.11:207472998:G:A p.(Val600Ile) NC_000001.11:207472998:G:A p.(Val600Ile) NC_000001.11:207472998:G:A Identity +NM_014625.4:c.548A>G NP_055440.1:p.Asp183Gly NC_000001.11:179557216:T:C p.(Asp183Gly) NC_000001.11:179557216:T:C p.(Asp183Gly) NC_000001.11:179557216:T:C Identity +NM_001127493.3:c.4717A>G NP_001120965.1:p.Ile1573Val NC_000004.12:113365148:A:G p.(Ile1573Val) NC_000004.12:113365148:A:G p.(Ile1573Val) NC_000004.12:113365148:A:G Identity +NM_001363823.2:c.101C>T NP_001350752.1:p.Pro34Leu NC_000002.12:32063931:C:T p.(Pro34Leu) NC_000002.12:32063931:C:T p.(Pro34Leu) NC_000002.12:32063931:C:T Identity +NM_003803.4:c.4390A>C NP_003794.3:p.Thr1464Pro NC_000018.10:3083882:T:G p.(Thr1464Pro) NC_000018.10:3083882:T:G p.(Thr1464Pro) NC_000018.10:3083882:T:G Identity +NM_000109.4:c.6272T>C NP_000100.3:p.Phe2091Ser NC_000023.11:32217057:A:G p.(Phe2091Ser) NC_000023.11:32217057:A:G p.(Phe2091Ser) NC_000023.11:32217057:A:G Identity +NM_032119.4:c.16530C>G NP_115495.3:p.His5510Gln NC_000005.10:90829104:C:G p.(His5510Gln) NC_000005.10:90829104:C:G p.(His5510Gln) NC_000005.10:90829104:C:G Identity +NM_019098.5:c.803T>C NP_061971.3:p.Met268Thr NC_000008.11:86666973:A:G p.(Met268Thr) NC_000008.11:86666973:A:G p.(Met268Thr) NC_000008.11:86666973:A:G Identity +NM_017890.5:c.8580T>G NP_060360.3:p.His2860Gln NC_000008.11:99818771:T:G p.(His2860Gln) NC_000008.11:99818771:T:G p.(His2860Gln) NC_000008.11:99818771:T:G Identity +NM_001318502.2:c.1036C>T NP_001305431.1:p.Arg346Trp NC_000009.12:136433277:G:A p.(Arg346Trp) NC_000009.12:136433277:G:A p.(Arg346Trp) NC_000009.12:136433277:G:A Identity +NM_000059.4:c.5374T>C NP_000050.3:p.Ser1792Pro NC_000013.11:32339728:T:C p.(Ser1792Pro) NC_000013.11:32339728:T:C p.(Ser1792Pro) NC_000013.11:32339728:T:C Identity +NM_001386500.1:c.1571T>G NP_001373429.1:p.Leu524Arg NC_000001.11:11240517:A:C p.(Leu524Arg) NC_000001.11:11240517:A:C p.(Leu524Arg) NC_000001.11:11240517:A:C Identity +NM_001167961.2:c.380A>G NP_001161433.1:p.Lys127Arg NC_000007.14:66638317:A:G p.(Lys127Arg) NC_000007.14:66638317:A:G p.(Lys127Arg) NC_000007.14:66638317:A:G Identity +NM_001282948.2:c.3148T>G NP_001269877.1:p.Leu1050Val NC_000010.11:63207974:A:C p.(Leu1050Val) NC_000010.11:63207974:A:C p.(Leu1050Val) NC_000010.11:63207974:A:C Identity +NM_003680.4:c.488G>T NP_003671.1:p.Gly163Val NC_000001.11:32806503:C:A p.(Gly163Val) NC_000001.11:32806503:C:A p.(Gly163Val) NC_000001.11:32806503:C:A Identity +NM_000448.3:c.1727A>T NP_000439.2:p.Asp576Val NC_000011.10:36575030:A:T p.(Asp576Val) NC_000011.10:36575030:A:T p.(Asp576Val) NC_000011.10:36575030:A:T Identity +NM_000834.5:c.4330A>G NP_000825.2:p.Lys1444Glu NC_000012.12:13562907:T:C p.(Lys1444Glu) NC_000012.12:13562907:T:C p.(Lys1444Glu) NC_000012.12:13562907:T:C Identity +NM_001146289.2:c.737G>A NP_001139761.1:p.Cys246Tyr NC_000001.11:42759271:C:T p.(Cys246Tyr) NC_000001.11:42759271:C:T p.(Cys246Tyr) NC_000001.11:42759271:C:T Identity +NM_001164097.2:c.3203A>G NP_001157569.1:p.Asp1068Gly NC_000005.10:83539166:A:G p.(Asp1068Gly) NC_000005.10:83539166:A:G p.(Asp1068Gly) NC_000005.10:83539166:A:G Identity +NM_006231.4:c.3020C>G NP_006222.2:p.Ala1007Gly NC_000012.12:132661008:G:C p.(Ala1007Gly) NC_000012.12:132661008:G:C p.(Ala1007Gly) NC_000012.12:132661008:G:C Identity +NM_001040108.2:c.1249G>T NP_001035197.1:p.Ala417Ser NC_000014.9:75048406:C:A p.(Ala417Ser) NC_000014.9:75048406:C:A p.(Ala417Ser) NC_000014.9:75048406:C:A Identity +NM_001037.5:c.358G>A NP_001028.1:p.Glu120Lys NC_000019.10:35033648:G:A p.(Glu120Lys) NC_000019.10:35033648:G:A p.(Glu120Lys) NC_000019.10:35033648:G:A Identity +NM_000368.5:c.1255C>T NP_000359.1:p.Pro419Ser NC_000009.12:132910578:G:A p.(Pro419Ser) NC_000009.12:132910578:G:A p.(Pro419Ser) NC_000009.12:132910578:G:A Identity +NM_001279353.2:c.583A>G NP_001266282.1:p.Lys195Glu NC_000001.11:150081958:A:G p.(Lys195Glu) NC_000001.11:150081958:A:G p.(Lys195Glu) NC_000001.11:150081958:A:G Identity +NM_001144964.1:c.310A>G NP_001138436.1:p.Ser104Gly NC_000018.10:58325154:A:G p.(Ser104Gly) NC_000018.10:58325154:A:G p.(Ser104Gly) NC_000018.10:58325154:A:G Identity +NM_001012301.4:c.1258C>T NP_001012301.1:p.Arg420Cys NC_000005.10:150297665:G:A p.(Arg420Cys) NC_000005.10:150297665:G:A p.(Arg420Cys) NC_000005.10:150297665:G:A Identity +NM_001134771.2:c.539G>A NP_001128243.1:p.Gly180Asp NC_000020.11:46036783:G:A p.(Gly180Asp) NC_000020.11:46036783:G:A p.(Gly180Asp) NC_000020.11:46036783:G:A Identity +NM_007254.4:c.825C>G NP_009185.2:p.Asp275Glu NC_000019.10:49862729:G:C p.(Asp275Glu) NC_000019.10:49862729:G:C p.(Asp275Glu) NC_000019.10:49862729:G:C Identity +NM_001098802.3:c.818C>T NP_001092272.1:p.Ala273Val NC_000009.12:78246707:C:T p.(Ala273Val) NC_000009.12:78246707:C:T p.(Ala273Val) NC_000009.12:78246707:C:T Identity +NM_001312654.1:c.130G>T NP_001299583.1:p.Val44Leu NC_000010.11:95844515:G:T p.(Val44Leu) NC_000010.11:95844515:G:T p.(Val44Leu) NC_000010.11:95844515:G:T Identity +NM_001282206.2:c.211G>T NP_001269135.1:p.Val71Leu NC_000009.12:34635792:C:A p.(Val71Leu) NC_000009.12:34635792:C:A p.(Val71Leu) NC_000009.12:34635792:C:A Identity +NM_020461.4:c.3257C>T NP_065194.3:p.Ala1086Val NC_000022.11:50221101:G:A p.(Ala1086Val) NC_000022.11:50221101:G:A p.(Ala1086Val) NC_000022.11:50221101:G:A Identity +NM_001144769.5:c.11246A>C NP_001138241.1:p.Gln3749Pro NC_000006.12:56528917:T:G p.(Gln3749Pro) NC_000006.12:56528917:T:G p.(Gln3749Pro) NC_000006.12:56528917:T:G Identity +NM_001271466.4:c.2186dup NP_001258395.2:p.Arg730fs NC_000002.12:231360806:CC:CCC p.(Arg730SerfsTer238) NC_000002.12:231360806:CC:CCC p.(Arg730SerfsTer238) ERR:SPDI Analogous +NM_001184751.2:c.1174A>G NP_001171680.1:p.Met392Val NC_000011.10:46704897:A:G p.(Met392Val) NC_000011.10:46704897:A:G p.(Met392Val) NC_000011.10:46704897:A:G Identity +NM_000553.6:c.1373A>G NP_000544.2:p.Glu458Gly NC_000008.11:31085187:A:G p.(Glu458Gly) NC_000008.11:31085187:A:G p.(Glu458Gly) NC_000008.11:31085187:A:G Identity +NM_001378355.1:c.1179G>C NP_001365284.1:p.Gln393His NC_000019.10:49831409:G:C p.(Gln393His) NC_000019.10:49831409:G:C p.(Gln393His) NC_000019.10:49831409:G:C Identity +NM_005458.8:c.707C>T NP_005449.5:p.Pro236Leu NC_000009.12:98496437:G:A p.(Pro236Leu) NC_000009.12:98496437:G:A p.(Pro236Leu) NC_000009.12:98496437:G:A Identity +NM_001244735.2:c.200dup NP_001231664.1:p.Leu68fs NC_000011.10:85656322:T:TT p.(Leu68ValfsTer13) NC_000011.10:85656322:T:TT p.(Leu68ValfsTer13) ERR:SPDI Analogous +NM_001029883.3:c.3530G>A NP_001025054.1:p.Arg1177Gln NC_000002.12:29070731:C:T p.(Arg1177Gln) NC_000002.12:29070731:C:T p.(Arg1177Gln) NC_000002.12:29070731:C:T Identity +NM_003809.3:c.610G>A NP_003800.1:p.Gly204Arg NC_000017.11:7557209:G:A p.(Gly204Arg) NC_000017.11:7557209:G:A p.(Gly204Arg) NC_000017.11:7557209:G:A Identity +NM_006892.4:c.389G>A NP_008823.1:p.Arg130His NC_000020.11:32786583:G:A p.(Arg130His) NC_000020.11:32786583:G:A p.(Arg130His) NC_000020.11:32786583:G:A Identity +NM_001002261.4:c.1079C>G NP_001002261.1:p.Ala360Gly NC_000010.11:97757285:C:G p.(Ala360Gly) NC_000010.11:97757285:C:G p.(Ala360Gly) NC_000010.11:97757285:C:G Identity +NM_000337.6:c.38C>T NP_000328.2:p.Thr13Ile NC_000005.10:156344522:C:T p.(Thr13Ile) NC_000005.10:156344522:C:T p.(Thr13Ile) NC_000005.10:156344522:C:T Identity +NM_000038.6:c.8404C>T NP_000029.2:p.Pro2802Ser NC_000005.10:112843997:C:T p.(Pro2802Ser) NC_000005.10:112843997:C:T p.(Pro2802Ser) NC_000005.10:112843997:C:T Identity +NM_006361.6:c.410A>G NP_006352.2:p.Tyr137Cys NC_000017.11:48728183:T:C p.(Tyr137Cys) NC_000017.11:48728183:T:C p.(Tyr137Cys) NC_000017.11:48728183:T:C Identity +NM_033071.5:c.6998C>T NP_149062.2:p.Ser2333Leu NC_000006.12:152401189:G:A p.(Ser2333Leu) NC_000006.12:152401189:G:A p.(Ser2333Leu) NC_000006.12:152401189:G:A Identity +NM_001386339.1:c.1277C>A NP_001373268.1:p.Ser426Tyr NC_000011.10:9992433:G:T p.(Ser426Tyr) NC_000011.10:9992433:G:T p.(Ser426Tyr) NC_000011.10:9992433:G:T Identity +NM_001304418.3:c.1483C>A NP_001291347.1:p.Arg495Ser NC_000003.12:69118871:G:T p.(Arg495Ser) NC_000003.12:69118871:G:T p.(Arg495Ser) NC_000003.12:69118871:G:T Identity +NM_001080522.2:c.4048C>T NP_001073991.2:p.Leu1350Phe NC_000004.12:15586228:C:T p.(Leu1350Phe) NC_000004.12:15586228:C:T p.(Leu1350Phe) NC_000004.12:15586228:C:T Identity +NM_001036.6:c.5141T>C NP_001027.3:p.Val1714Ala NC_000015.10:33662670:T:C p.(Val1714Ala) NC_000015.10:33662670:T:C p.(Val1714Ala) NC_000015.10:33662670:T:C Identity +NM_001164281.3:c.580A>G NP_001157753.1:p.Thr194Ala NC_000006.12:111591506:T:C p.(Thr194Ala) NC_000006.12:111591506:T:C p.(Thr194Ala) NC_000006.12:111591506:T:C Identity +NM_017617.5:c.433G>A NP_060087.3:p.Ala145Thr NC_000009.12:136523158:C:T p.(Ala145Thr) NC_000009.12:136523158:C:T p.(Ala145Thr) NC_000009.12:136523158:C:T Identity +NM_001167961.2:c.35G>T NP_001161433.1:p.Arg12Leu NC_000007.14:66629098:G:T p.(Arg12Leu) NC_000007.14:66629098:G:T p.(Arg12Leu) NC_000007.14:66629098:G:T Identity +NM_001303256.3:c.2432G>A NP_001290185.1:p.Arg811His NC_000022.11:30932978:C:T p.(Arg811His) NC_000022.11:30932978:C:T p.(Arg811His) NC_000022.11:30932978:C:T Identity +NM_001130438.3:c.1687A>G NP_001123910.1:p.Met563Val NC_000009.12:128582729:A:G p.(Met563Val) NC_000009.12:128582729:A:G p.(Met563Val) NC_000009.12:128582729:A:G Identity +NM_031407.7:c.12958A>T NP_113584.3:p.Ile4320Phe NC_000023.11:53534070:T:A p.(Ile4320Phe) NC_000023.11:53534070:T:A p.(Ile4320Phe) NC_000023.11:53534070:T:A Identity +NM_001352253.3:c.535A>C NP_001339182.1:p.Ile179Leu NC_000013.11:110687756:T:G p.(Ile179Leu) NC_000013.11:110687756:T:G p.(Ile179Leu) NC_000013.11:110687756:T:G Identity +NM_033071.5:c.14641T>C NP_149062.2:p.Phe4881Leu NC_000006.12:152329830:A:G p.(Phe4881Leu) NC_000006.12:152329830:A:G p.(Phe4881Leu) NC_000006.12:152329830:A:G Identity +NM_004994.3:c.943G>T NP_004985.2:p.Ala315Ser NC_000020.11:46011692:G:T p.(Ala315Ser) NC_000020.11:46011692:G:T p.(Ala315Ser) NC_000020.11:46011692:G:T Identity +NM_001134771.2:c.3394C>T NP_001128243.1:p.Arg1132Cys NC_000020.11:46057578:C:T p.(Arg1132Cys) NC_000020.11:46057578:C:T p.(Arg1132Cys) NC_000020.11:46057578:C:T Identity +NM_015909.4:c.3062G>C NP_056993.2:p.Arg1021Thr NC_000002.12:15402176:C:G p.(Arg1021Thr) NC_000002.12:15402176:C:G p.(Arg1021Thr) NC_000002.12:15402176:C:G Identity +NM_017890.5:c.2959G>A NP_060360.3:p.Val987Ile NC_000008.11:99391580:G:A p.(Val987Ile) NC_000008.11:99391580:G:A p.(Val987Ile) NC_000008.11:99391580:G:A Identity +NM_012338.4:c.800A>G NP_036470.1:p.Asn267Ser NC_000007.14:120788709:T:C p.(Asn267Ser) NC_000007.14:120788709:T:C p.(Asn267Ser) NC_000007.14:120788709:T:C Identity +NM_001288951.2:c.1228G>A NP_001275880.1:p.Ala410Thr NC_000002.12:47006664:G:A p.(Ala410Thr) NC_000002.12:47006664:G:A p.(Ala410Thr) NC_000002.12:47006664:G:A Identity +NM_001005505.3:c.2623G>A NP_001005505.1:p.Glu875Lys NC_000003.12:50366591:C:T p.(Glu875Lys) NC_000003.12:50366591:C:T p.(Glu875Lys) NC_000003.12:50366591:C:T Identity +NM_005765.3:c.455G>A NP_005756.2:p.Arg152His NC_000023.11:40597584:G:A p.(Arg152His) NC_000023.11:40597584:G:A p.(Arg152His) NC_000023.11:40597584:G:A Identity +NM_000151.4:c.193G>T NP_000142.2:p.Ala65Ser NC_000017.11:42901068:G:T p.(Ala65Ser) NC_000017.11:42901068:G:T p.(Ala65Ser) NC_000017.11:42901068:G:T Identity +NM_001277155.3:c.958A>C NP_001264084.1:p.Ile320Leu NC_000001.11:235465641:T:G p.(Ile320Leu) NC_000001.11:235465641:T:G p.(Ile320Leu) NC_000001.11:235465641:T:G Identity +NM_001378923.1:c.1848C>G NP_001365852.1:p.Ile616Met NC_000009.12:35802754:C:G p.(Ile616Met) NC_000009.12:35802754:C:G p.(Ile616Met) NC_000009.12:35802754:C:G Identity +NM_000551.4:c.124G>C NP_000542.1:p.Glu42Gln NC_000003.12:10141970:G:C p.(Glu42Gln) NC_000003.12:10141970:G:C p.(Glu42Gln) NC_000003.12:10141970:G:C Identity +NM_001035.3:c.6880G>A NP_001026.2:p.Glu2294Lys NC_000001.11:237638443:G:A p.(Glu2294Lys) NC_000001.11:237638443:G:A p.(Glu2294Lys) NC_000001.11:237638443:G:A Identity +NM_001291997.2:c.577G>A NP_001278926.1:p.Glu193Lys NC_000016.10:78432611:G:A p.(Glu193Lys) NC_000016.10:78432611:G:A p.(Glu193Lys) NC_000016.10:78432611:G:A Identity +NM_001365536.1:c.3194G>A NP_001352465.1:p.Ser1065Asn NC_000002.12:166272555:C:T p.(Ser1065Asn) NC_000002.12:166272555:C:T p.(Ser1065Asn) NC_000002.12:166272555:C:T Identity +NM_000138.5:c.6617A>T NP_000129.3:p.Asp2206Val NC_000015.10:48432987:T:A p.(Asp2206Val) NC_000015.10:48432987:T:A p.(Asp2206Val) NC_000015.10:48432987:T:A Identity +NM_173551.5:c.915C>A NP_775822.3:p.Phe305Leu NC_000009.12:98784149:G:T p.(Phe305Leu) NC_000009.12:98784149:G:T p.(Phe305Leu) NC_000009.12:98784149:G:T Identity +NM_001294332.2:c.740T>A NP_001281261.1:p.Phe247Tyr NC_000005.10:230988:T:A p.(Phe247Tyr) NC_000005.10:230988:T:A p.(Phe247Tyr) NC_000005.10:230988:T:A Identity +NM_001363227.2:c.7G>C NP_001350156.1:p.Gly3Arg NC_000008.11:43140502:G:C p.(Gly3Arg) NC_000008.11:43140502:G:C p.(Gly3Arg) NC_000008.11:43140502:G:C Identity +NM_001164665.2:c.4372G>A NP_001158137.1:p.Glu1458Lys NC_000007.14:138871335:C:T p.(Glu1458Lys) NC_000007.14:138871335:C:T p.(Glu1458Lys) NC_000007.14:138871335:C:T Identity +NM_001256267.2:c.502C>G NP_001243196.1:p.His168Asp NC_000010.11:68121939:C:G p.(His168Asp) NC_000010.11:68121939:C:G p.(His168Asp) NC_000010.11:68121939:C:G Identity +NM_000551.4:c.64G>A NP_000542.1:p.Glu22Lys NC_000003.12:10141910:G:A p.(Glu22Lys) NC_000003.12:10141910:G:A p.(Glu22Lys) NC_000003.12:10141910:G:A Identity +NM_001252020.2:c.4627G>A NP_001238949.1:p.Asp1543Asn NC_000015.10:31002123:C:T p.(Asp1543Asn) NC_000015.10:31002123:C:T p.(Asp1543Asn) NC_000015.10:31002123:C:T Identity +NM_002180.3:c.367G>C NP_002171.2:p.Asp123His NC_000011.10:68908254:G:C p.(Asp123His) NC_000011.10:68908254:G:C p.(Asp123His) NC_000011.10:68908254:G:C Identity +NM_172364.5:c.3148C>T NP_758952.4:p.Leu1050Phe NC_000012.12:1795745:G:A p.(Leu1050Phe) NC_000012.12:1795745:G:A p.(Leu1050Phe) NC_000012.12:1795745:G:A Identity +NM_020184.4:c.772A>G NP_064569.3:p.Thr258Ala NC_000002.12:96761770:A:G p.(Thr258Ala) NC_000002.12:96761770:A:G p.(Thr258Ala) NC_000002.12:96761770:A:G Identity +NM_025114.4:c.4097T>G NP_079390.3:p.Val1366Gly NC_000012.12:88087876:A:C p.(Val1366Gly) NC_000012.12:88087876:A:C p.(Val1366Gly) NC_000012.12:88087876:A:C Identity +NM_001283009.2:c.3008A>C NP_001269938.1:p.Asp1003Ala NC_000020.11:63694386:A:C p.(Asp1003Ala) NC_000020.11:63694386:A:C p.(Asp1003Ala) NC_000020.11:63694386:A:C Identity +NM_000243.3:c.1808A>G NP_000234.1:p.Asp603Gly NC_000016.10:3243678:T:C p.(Asp603Gly) NC_000016.10:3243678:T:C p.(Asp603Gly) NC_000016.10:3243678:T:C Identity +NM_001271999.2:c.1207A>G NP_001258928.1:p.Ile403Val NC_000001.11:62631314:T:C p.(Ile403Val) NC_000001.11:62631314:T:C p.(Ile403Val) NC_000001.11:62631314:T:C Identity +NM_001079.4:c.1225G>T NP_001070.2:p.Ala409Ser NC_000002.12:97735391:G:T p.(Ala409Ser) NC_000002.12:97735391:G:T p.(Ala409Ser) NC_000002.12:97735391:G:T Identity +NM_000426.4:c.4462_4463delinsAT NP_000417.3:p.Gly1488Ile NC_000006.12:129349322:GG:AT p.(Gly1488Ile) NC_000006.12:129349322:GG:AT p.(Gly1488Ile) NC_000006.12:129349322:GG:AT Identity +NM_000322.5:c.171C>G NP_000313.2:p.Ser57Arg NC_000006.12:42722163:G:C p.(Ser57Arg) NC_000006.12:42722163:G:C p.(Ser57Arg) NC_000006.12:42722163:G:C Identity +NM_001365536.1:c.739G>C NP_001352465.1:p.Asp247His NC_000002.12:166303251:C:G p.(Asp247His) NC_000002.12:166303251:C:G p.(Asp247His) NC_000002.12:166303251:C:G Identity +NM_001317195.3:c.1301T>C NP_001304124.1:p.Val434Ala NC_000016.10:68684700:T:C p.(Val434Ala) NC_000016.10:68684700:T:C p.(Val434Ala) NC_000016.10:68684700:T:C Identity +NM_001165963.4:c.1201A>G NP_001159435.1:p.Ile401Val NC_000002.12:166046945:T:C p.(Ile401Val) NC_000002.12:166046945:T:C p.(Ile401Val) NC_000002.12:166046945:T:C Identity +NM_000264.5:c.1759A>G NP_000255.2:p.Met587Val NC_000009.12:95469900:T:C p.(Met587Val) NC_000009.12:95469900:T:C p.(Met587Val) NC_000009.12:95469900:T:C Identity +NM_001143990.2:c.1063G>A NP_001137462.1:p.Asp355Asn NC_000017.11:7702450:G:A p.(Asp355Asn) NC_000017.11:7702450:G:A p.(Asp355Asn) NC_000017.11:7702450:G:A Identity +NM_000426.4:c.4498G>A NP_000417.3:p.Gly1500Arg NC_000006.12:129349358:G:A p.(Gly1500Arg) NC_000006.12:129349358:G:A p.(Gly1500Arg) NC_000006.12:129349358:G:A Identity +NM_001127493.3:c.5350C>A NP_001120965.1:p.Pro1784Thr NC_000004.12:113373110:C:A p.(Pro1784Thr) NC_000004.12:113373110:C:A p.(Pro1784Thr) NC_000004.12:113373110:C:A Identity +NM_001305275.2:c.1159G>A NP_001292204.1:p.Gly387Ser NC_000001.11:1041683:G:A p.(Gly387Ser) NC_000001.11:1041683:G:A p.(Gly387Ser) NC_000001.11:1041683:G:A Identity +NM_000323.2:c.2900G>A NP_000314.1:p.Gly967Asp NC_000010.11:43123768:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000069.3:c.1001G>C NP_000060.2:p.Ser334Thr NC_000001.11:201087828:C:G p.(Ser334Thr) NC_000001.11:201087828:C:G p.(Ser334Thr) NC_000001.11:201087828:C:G Identity +NM_001318746.1:c.76G>C NP_001305675.1:p.Val26Leu NC_000006.12:106622867:C:G p.(Val26Leu) NC_000006.12:106622867:C:G p.(Val26Leu) NC_000006.12:106622867:C:G Identity +NM_001005407.2:c.6263C>T NP_001005407.1:p.Ser2088Leu NC_000016.10:1220212:C:T p.(Ser2088Leu) NC_000016.10:1220212:C:T p.(Ser2088Leu) NC_000016.10:1220212:C:T Identity +NM_000202.8:c.781C>T NP_000193.1:p.Pro261Ser NC_000023.11:149496443:G:A p.(Pro261Ser) NC_000023.11:149496443:G:A p.(Pro261Ser) NC_000023.11:149496443:G:A Identity +NM_001173990.3:c.295T>C NP_001167461.1:p.Ser99Pro NC_000011.10:61397838:T:C p.(Ser99Pro) NC_000011.10:61397838:T:C p.(Ser99Pro) NC_000011.10:61397838:T:C Identity +NM_001080.3:c.374G>A NP_001071.1:p.Arg125Gln NC_000006.12:24502541:G:A p.(Arg125Gln) NC_000006.12:24502541:G:A p.(Arg125Gln) NC_000006.12:24502541:G:A Identity +NM_001005374.4:c.951_952inv NP_001005374.1:p.Asn318Asp NC_000009.12:127479885:CA:TG p.(Asn318Asp) NC_000009.12:127479885:CA:TG p.(Asn318Asp) ERR:SPDI Identity +NM_001256267.2:c.2570C>T NP_001243196.1:p.Ser857Phe NC_000010.11:68175327:C:T p.(Ser857Phe) NC_000010.11:68175327:C:T p.(Ser857Phe) NC_000010.11:68175327:C:T Identity +NM_000760.4:c.2194G>A NP_000751.1:p.Asp732Asn NC_000001.11:36466673:C:T p.(Asp732Asn) NC_000001.11:36466673:C:T p.(Asp732Asn) NC_000001.11:36466673:C:T Identity +NM_001145152.2:c.670G>A NP_001138624.1:p.Glu224Lys NC_000008.11:17280058:G:A p.(Glu224Lys) NC_000008.11:17280058:G:A p.(Glu224Lys) NC_000008.11:17280058:G:A Identity +NM_032520.5:c.263A>G NP_115909.1:p.Asn88Ser NC_000016.10:1361900:A:G p.(Asn88Ser) NC_000016.10:1361900:A:G p.(Asn88Ser) NC_000016.10:1361900:A:G Identity +NM_001277126.2:c.2773C>T NP_001264055.1:p.Arg925Trp NC_000019.10:53798399:G:A p.(Arg925Trp) NC_000019.10:53798399:G:A p.(Arg925Trp) NC_000019.10:53798399:G:A Identity +NM_001242.5:c.143T>A NP_001233.2:p.Phe48Tyr NC_000012.12:6445429:T:A p.(Phe48Tyr) NC_000012.12:6445429:T:A p.(Phe48Tyr) NC_000012.12:6445429:T:A Identity +NM_020376.4:c.74T>C NP_065109.1:p.Val25Ala NC_000011.10:819791:T:C p.(Val25Ala) NC_000011.10:819791:T:C p.(Val25Ala) NC_000011.10:819791:T:C Identity +NM_001346599.2:c.1925G>T NP_001333528.1:p.Cys642Phe NC_000007.14:105565620:G:T p.(Cys642Phe) NC_000007.14:105565620:G:T p.(Cys642Phe) NC_000007.14:105565620:G:T Identity +NM_003265.3:c.2711A>T NP_003256.1:p.His904Leu NC_000004.12:186084868:A:T p.(His904Leu) NC_000004.12:186084868:A:T p.(His904Leu) NC_000004.12:186084868:A:T Identity +NM_006944.3:c.419C>T NP_008875.1:p.Thr140Met NC_000002.12:234060453:C:T p.(Thr140Met) NC_000002.12:234060453:C:T p.(Thr140Met) NC_000002.12:234060453:C:T Identity +NM_145178.4:c.4A>G NP_660161.1:p.Lys2Glu NC_000010.11:68231673:T:C p.(Lys2Glu) NC_000010.11:68231673:T:C p.(Lys2Glu) NC_000010.11:68231673:T:C Identity +NM_001365999.1:c.134C>G NP_001352928.1:p.Ala45Gly NC_000001.11:43403282:C:G p.(Ala45Gly) NC_000001.11:43403282:C:G p.(Ala45Gly) NC_000001.11:43403282:C:G Identity +NM_000368.5:c.934T>C NP_000359.1:p.Tyr312His NC_000009.12:132911547:A:G p.(Tyr312His) NC_000009.12:132911547:A:G p.(Tyr312His) NC_000009.12:132911547:A:G Identity +NM_001605.3:c.289TTC[1] NP_001596.2:p.Phe98del NC_000016.10:70277004:GAAGAAG:GAAG p.(Phe98del) NC_000016.10:70277009:A:GAA ERR:Parse ERR:Parse Identity +NM_000264.5:c.2870C>G NP_000255.2:p.Pro957Arg NC_000009.12:95459616:G:C p.(Pro957Arg) NC_000009.12:95459616:G:C p.(Pro957Arg) NC_000009.12:95459616:G:C Identity +NM_025216.3:c.519G>T NP_079492.2:p.Lys173Asn NC_000002.12:218890125:G:T p.(Lys173Asn) NC_000002.12:218890125:G:T p.(Lys173Asn) NC_000002.12:218890125:G:T Identity +NM_001351527.2:c.3517C>G NP_001338456.1:p.Pro1173Ala NC_000009.12:132328080:G:C p.(Pro1173Ala) NC_000009.12:132328080:G:C p.(Pro1173Ala) NC_000009.12:132328080:G:C Identity +NM_025099.6:c.1871G>A NP_079375.3:p.Arg624Gln NC_000017.11:8232979:C:T p.(Arg624Gln) NC_000017.11:8232979:C:T p.(Arg624Gln) NC_000017.11:8232979:C:T Identity +NM_006269.2:c.6040G>A NP_006260.1:p.Gly2014Arg NC_000008.11:54629921:G:A p.(Gly2014Arg) NC_000008.11:54629921:G:A p.(Gly2014Arg) NC_000008.11:54629921:G:A Identity +NM_001363907.1:c.1210_1220del NP_001350836.1:p.Pro404fs NC_000016.10:85921177:GCCCCCGAGGAGCC:GCC p.(Pro404AlafsTer72) NC_000016.10:85921177:GCCCCCGAGGAGCC:GCC p.(Pro404AlafsTer72) NC_000016.10:85921180:CCCGAGGAGCC: Analogous +NM_001164617.2:c.518G>A NP_001158089.1:p.Ser173Asn NC_000023.11:133753995:C:T p.(Ser173Asn) NC_000023.11:133753995:C:T p.(Ser173Asn) NC_000023.11:133753995:C:T Identity +NM_000069.3:c.1793A>T NP_000060.2:p.Asp598Val NC_000001.11:201076953:T:A p.(Asp598Val) NC_000001.11:201076953:T:A p.(Asp598Val) NC_000001.11:201076953:T:A Identity +NM_001164317.2:c.3151G>A NP_001157789.1:p.Glu1051Lys NC_000003.12:58123116:G:A p.(Glu1051Lys) NC_000003.12:58123116:G:A p.(Glu1051Lys) NC_000003.12:58123116:G:A Identity +NM_020366.4:c.80C>T NP_065099.3:p.Ser27Leu NC_000014.9:21288055:C:T p.(Ser27Leu) NC_000014.9:21288055:C:T p.(Ser27Leu) NC_000014.9:21288055:C:T Identity +NM_001033855.3:c.539A>T NP_001029027.1:p.Glu180Val NC_000010.11:14934518:T:A p.(Glu180Val) NC_000010.11:14934518:T:A p.(Glu180Val) NC_000010.11:14934518:T:A Identity +NM_001164665.2:c.1290G>T NP_001158137.1:p.Gln430His NC_000007.14:138918335:C:A p.(Gln430His) NC_000007.14:138918335:C:A p.(Gln430His) NC_000007.14:138918335:C:A Identity +NM_001377291.1:c.793A>G NP_001364220.1:p.Thr265Ala NC_000006.12:70282905:T:C p.(Thr265Ala) NC_000006.12:70282905:T:C p.(Thr265Ala) NC_000006.12:70282905:T:C Identity +NM_006231.4:c.6625A>G NP_006222.2:p.Lys2209Glu NC_000012.12:132625676:T:C p.(Lys2209Glu) NC_000012.12:132625676:T:C p.(Lys2209Glu) NC_000012.12:132625676:T:C Identity +NM_033071.5:c.10114A>G NP_149062.2:p.Ser3372Gly NC_000006.12:152364898:T:C p.(Ser3372Gly) NC_000006.12:152364898:T:C p.(Ser3372Gly) NC_000006.12:152364898:T:C Identity +NM_000059.4:c.6101G>T NP_000050.3:p.Arg2034Leu NC_000013.11:32340455:G:T p.(Arg2034Leu) NC_000013.11:32340455:G:T p.(Arg2034Leu) NC_000013.11:32340455:G:T Identity +NM_001007188.4:c.554A>G NP_001007189.1:p.Asp185Gly NC_000022.11:31783976:A:G p.(Asp185Gly) NC_000022.11:31783976:A:G p.(Asp185Gly) NC_000022.11:31783976:A:G Identity +NM_000135.4:c.2417C>T NP_000126.2:p.Pro806Leu NC_000016.10:89769923:G:A p.(Pro806Leu) NC_000016.10:89769923:G:A p.(Pro806Leu) NC_000016.10:89769923:G:A Identity +NM_001134363.3:c.1944C>A NP_001127835.2:p.His648Gln NC_000010.11:110812340:C:A p.(His648Gln) NC_000010.11:110812340:C:A p.(His648Gln) NC_000010.11:110812340:C:A Identity +NM_006231.4:c.510C>G NP_006222.2:p.Ile170Met NC_000012.12:132679564:G:C p.(Ile170Met) NC_000012.12:132679564:G:C p.(Ile170Met) NC_000012.12:132679564:G:C Identity +NM_001142571.2:c.425C>T NP_001136043.1:p.Ala142Val NC_000017.11:35107102:G:A p.(Ala142Val) NC_000017.11:35107102:G:A p.(Ala142Val) NC_000017.11:35107102:G:A Identity +NM_001164507.2:c.24028T>C NP_001157979.2:p.Tyr8010His NC_000002.12:151499383:A:G p.(Tyr8010His) NC_000002.12:151499383:A:G p.(Tyr8010His) NC_000002.12:151499383:A:G Identity +NM_000238.4:c.3209A>T NP_000229.1:p.Gln1070Leu NC_000007.14:150946997:T:A p.(Gln1070Leu) NC_000007.14:150946997:T:A p.(Gln1070Leu) NC_000007.14:150946997:T:A Identity +NM_001297571.2:c.577C>T NP_001284500.1:p.Pro193Ser NC_000012.12:6843858:C:T p.(Pro193Ser) NC_000012.12:6843858:C:T p.(Pro193Ser) NC_000012.12:6843858:C:T Identity +NM_000262.3:c.230T>C NP_000253.1:p.Ile77Thr NC_000022.11:42067858:A:G p.(Ile77Thr) NC_000022.11:42067858:A:G p.(Ile77Thr) NC_000022.11:42067858:A:G Identity +NM_001142333.2:c.795C>G NP_001135805.1:p.Ile265Met NC_000016.10:7653932:C:G p.(Ile265Met) NC_000016.10:7653932:C:G p.(Ile265Met) NC_000016.10:7653932:C:G Identity +NM_032119.4:c.6557C>T NP_115495.3:p.Pro2186Leu NC_000005.10:90689926:C:T p.(Pro2186Leu) NC_000005.10:90689926:C:T p.(Pro2186Leu) NC_000005.10:90689926:C:T Identity +NM_001135040.3:c.2327A>G NP_001128512.1:p.Gln776Arg NC_000002.12:74366861:T:C p.(Gln776Arg) NC_000002.12:74366861:T:C p.(Gln776Arg) NC_000002.12:74366861:T:C Identity +NM_001384466.1:c.677G>A NP_001371395.1:p.Arg226His NC_000011.10:64116943:G:A p.(Arg226His) NC_000011.10:64116943:G:A p.(Arg226His) NC_000011.10:64116943:G:A Identity +NM_032444.4:c.332C>T NP_115820.2:p.Pro111Leu NC_000016.10:3608632:G:A p.(Pro111Leu) NC_000016.10:3608632:G:A p.(Pro111Leu) NC_000016.10:3608632:G:A Identity +NM_001014794.3:c.968G>A NP_001014794.1:p.Arg323His NC_000011.10:6609834:G:A p.(Arg323His) NC_000011.10:6609834:G:A p.(Arg323His) NC_000011.10:6609834:G:A Identity +NM_004415.4:c.5110G>A NP_004406.2:p.Glu1704Lys NC_000006.12:7581299:G:A p.(Glu1704Lys) NC_000006.12:7581299:G:A p.(Glu1704Lys) NC_000006.12:7581299:G:A Identity +NM_000152.5:c.1165G>A NP_000143.2:p.Glu389Lys NC_000017.11:80108577:G:A p.(Glu389Lys) NC_000017.11:80108577:G:A p.(Glu389Lys) NC_000017.11:80108577:G:A Identity +NM_001348250.2:c.109_110delinsGC NP_001335179.1:p.Lys37Ala NC_000003.12:11017319:AA:GC p.(Lys37Ala) NC_000003.12:11017319:AA:GC p.(Lys37Ala) NC_000003.12:11017319:AA:GC Identity +NM_001346899.2:c.3344A>G NP_001333828.1:p.Lys1115Arg NC_000007.14:55205462:A:G p.(Lys1115Arg) NC_000007.14:55205462:A:G p.(Lys1115Arg) NC_000007.14:55205462:A:G Identity +NM_001171933.1:c.625G>A NP_001165404.1:p.Ala209Thr NC_000010.11:71799611:G:A p.(Ala209Thr) NC_000010.11:71799611:G:A p.(Ala209Thr) NC_000010.11:71799611:G:A Identity +NM_001379200.1:c.1217A>G NP_001366129.1:p.Asn406Ser NC_000022.11:19766568:A:G p.(Asn406Ser) NC_000022.11:19766568:A:G p.(Asn406Ser) NC_000022.11:19766568:A:G Identity +NM_001282948.2:c.7042C>A NP_001269877.1:p.His2348Asn NC_000010.11:63168079:G:T p.(His2348Asn) NC_000010.11:63168079:G:T p.(His2348Asn) NC_000010.11:63168079:G:T Identity +NM_001318381.2:c.1398C>G NP_001305310.1:p.Ile466Met NC_000009.12:100272977:C:G p.(Ile466Met) NC_000009.12:100272977:C:G p.(Ile466Met) NC_000009.12:100272977:C:G Identity +NM_000080.4:c.373G>A NP_000071.1:p.Asp125Asn NC_000017.11:4902058:C:T p.(Asp125Asn) NC_000017.11:4902058:C:T p.(Asp125Asn) NC_000017.11:4902058:C:T Identity +NM_001199107.2:c.88A>G NP_001186036.1:p.Thr30Ala NC_000016.10:2496235:A:G p.(Thr30Ala) NC_000016.10:2496235:A:G p.(Thr30Ala) NC_000016.10:2496235:A:G Identity +NM_000532.5:c.449C>T NP_000523.2:p.Thr150Met NC_000003.12:136261970:C:T p.(Thr150Met) NC_000003.12:136261970:C:T p.(Thr150Met) NC_000003.12:136261970:C:T Identity +NM_005045.4:c.718G>A NP_005036.2:p.Val240Ile NC_000007.14:103728145:C:T p.(Val240Ile) NC_000007.14:103728145:C:T p.(Val240Ile) NC_000007.14:103728145:C:T Identity +NM_014714.4:c.3350T>C NP_055529.2:p.Leu1117Pro NC_000016.10:1523620:A:G p.(Leu1117Pro) NC_000016.10:1523620:A:G p.(Leu1117Pro) NC_000016.10:1523620:A:G Identity +NM_001308122.2:c.925A>T NP_001295051.1:p.Ile309Phe NC_000005.10:132387052:A:T p.(Ile309Phe) NC_000005.10:132387052:A:T p.(Ile309Phe) NC_000005.10:132387052:A:T Identity +NM_019098.5:c.424A>G NP_061971.3:p.Arg142Gly NC_000008.11:86671012:T:C p.(Arg142Gly) NC_000008.11:86671012:T:C p.(Arg142Gly) NC_000008.11:86671012:T:C Identity +NM_001256789.3:c.1037A>G NP_001243718.1:p.Glu346Gly NC_000023.11:49228116:T:C p.(Glu346Gly) NC_000023.11:49228116:T:C p.(Glu346Gly) NC_000023.11:49228116:T:C Identity +NM_001005862.3:c.784G>A NP_001005862.1:p.Gly262Ser NC_000017.11:39710453:G:A p.(Gly262Ser) NC_000017.11:39710453:G:A p.(Gly262Ser) NC_000017.11:39710453:G:A Identity +NM_000179.3:c.2783C>T NP_000170.1:p.Thr928Ile NC_000002.12:47800765:C:T p.(Thr928Ile) NC_000002.12:47800765:C:T p.(Thr928Ile) NC_000002.12:47800765:C:T Identity +NM_001008211.1:c.799A>G NP_001008212.1:p.Lys267Glu NC_000010.11:13122403:A:G p.(Lys267Glu) NC_000010.11:13122403:A:G p.(Lys267Glu) NC_000010.11:13122403:A:G Identity +NM_002439.5:c.1250G>C NP_002430.3:p.Arg417Pro NC_000005.10:80679002:G:C p.(Arg417Pro) NC_000005.10:80679002:G:C p.(Arg417Pro) NC_000005.10:80679002:G:C Identity +NM_001013838.3:c.1222C>A NP_001013860.1:p.Pro408Thr NC_000016.10:67648201:C:A p.(Pro408Thr) NC_000016.10:67648201:C:A p.(Pro408Thr) NC_000016.10:67648201:C:A Identity +NM_001099400.2:c.241A>G NP_001092870.1:p.Ser81Gly NC_000007.14:94628350:T:C p.(Ser81Gly) NC_000007.14:94628350:T:C p.(Ser81Gly) NC_000007.14:94628350:T:C Identity +NM_001008222.3:c.331G>T NP_001008223.1:p.Ala111Ser NC_000023.11:129823834:C:A p.(Ala111Ser) NC_000023.11:129823834:C:A p.(Ala111Ser) NC_000023.11:129823834:C:A Identity +NM_001349896.1:c.1356A>C NP_001336825.1:p.Gln452His NC_000022.11:26464273:T:G p.(Gln452His) NC_000022.11:26464273:T:G p.(Gln452His) NC_000022.11:26464273:T:G Identity +NM_001281303.2:c.1361A>G NP_001268232.1:p.Gln454Arg NC_000009.12:92032493:T:C p.(Gln454Arg) NC_000009.12:92032493:T:C p.(Gln454Arg) NC_000009.12:92032493:T:C Identity +NM_015512.5:c.7618G>A NP_056327.4:p.Val2540Met NC_000003.12:52381648:G:A p.(Val2540Met) NC_000003.12:52381648:G:A p.(Val2540Met) NC_000003.12:52381648:G:A Identity +NM_032119.4:c.3955C>T NP_115495.3:p.Arg1319Trp NC_000005.10:90653528:C:T p.(Arg1319Trp) NC_000005.10:90653528:C:T p.(Arg1319Trp) NC_000005.10:90653528:C:T Identity +NM_032119.4:c.12595G>C NP_115495.3:p.Gly4199Arg NC_000005.10:90777971:G:C p.(Gly4199Arg) NC_000005.10:90777971:G:C p.(Gly4199Arg) NC_000005.10:90777971:G:C Identity +NM_024592.5:c.77T>G NP_078868.1:p.Phe26Cys NC_000004.12:55346412:T:G p.(Phe26Cys) NC_000004.12:55346412:T:G p.(Phe26Cys) NC_000004.12:55346412:T:G Identity +NM_000540.3:c.14414A>G NP_000531.2:p.Tyr4805Cys NC_000019.10:38580030:A:G p.(Tyr4805Cys) NC_000019.10:38580030:A:G p.(Tyr4805Cys) NC_000019.10:38580030:A:G Identity +NM_016247.4:c.3203A>G NP_057331.2:p.Asp1068Gly NC_000003.12:101232810:T:C p.(Asp1068Gly) NC_000003.12:101232810:T:C p.(Asp1068Gly) NC_000003.12:101232810:T:C Identity +NM_001172425.3:c.124G>A NP_001165896.1:p.Val42Ile NC_000001.11:225941016:C:T p.(Val42Ile) NC_000001.11:225941016:C:T p.(Val42Ile) NC_000001.11:225941016:C:T Identity +NM_001277961.3:c.803C>T NP_001264890.1:p.Ala268Val NC_000011.10:4074512:C:T p.(Ala268Val) NC_000011.10:4074512:C:T p.(Ala268Val) NC_000011.10:4074512:C:T Identity +NM_001282948.2:c.7054G>C NP_001269877.1:p.Val2352Leu NC_000010.11:63168067:C:G p.(Val2352Leu) NC_000010.11:63168067:C:G p.(Val2352Leu) NC_000010.11:63168067:C:G Identity +NM_001256442.2:c.118G>A NP_001243371.1:p.Gly40Arg NC_000016.10:29813171:G:A p.(Gly40Arg) NC_000016.10:29813171:G:A p.(Gly40Arg) NC_000016.10:29813171:G:A Identity +NM_015141.4:c.829G>C NP_055956.1:p.Glu277Gln NC_000003.12:32159085:G:C p.(Glu277Gln) NC_000003.12:32159085:G:C p.(Glu277Gln) NC_000003.12:32159085:G:C Identity +NM_016247.4:c.1604C>T NP_057331.2:p.Ser535Leu NC_000003.12:101244726:G:A p.(Ser535Leu) NC_000003.12:101244726:G:A p.(Ser535Leu) NC_000003.12:101244726:G:A Identity +NM_001144964.1:c.2113G>A NP_001138436.1:p.Ala705Thr NC_000018.10:58385574:G:A p.(Ala705Thr) NC_000018.10:58385574:G:A p.(Ala705Thr) NC_000018.10:58385574:G:A Identity +NM_001081640.2:c.4703A>G NP_001075109.1:p.Asn1568Ser NC_000008.11:47886016:T:C p.(Asn1568Ser) NC_000008.11:47886016:T:C p.(Asn1568Ser) NC_000008.11:47886016:T:C Identity +NM_001290020.2:c.220G>A NP_001276949.1:p.Val74Ile NC_000010.11:27994922:C:T p.(Val74Ile) NC_000010.11:27994922:C:T p.(Val74Ile) NC_000010.11:27994922:C:T Identity +NM_000548.5:c.3460A>T NP_000539.2:p.Thr1154Ser NC_000016.10:2080226:A:T p.(Thr1154Ser) NC_000016.10:2080226:A:T p.(Thr1154Ser) NC_000016.10:2080226:A:T Identity +NM_000553.6:c.2685G>C NP_000544.2:p.Met895Ile NC_000008.11:31124575:G:C p.(Met895Ile) NC_000008.11:31124575:G:C p.(Met895Ile) NC_000008.11:31124575:G:C Identity +NM_000426.4:c.5404C>A NP_000417.3:p.Arg1802Ser NC_000006.12:129393213:C:A p.(Arg1802Ser) NC_000006.12:129393213:C:A p.(Arg1802Ser) NC_000006.12:129393213:C:A Identity +NM_001407861.1:c.446C>G NP_001394790.1:p.Thr149Ser NC_000017.11:43099872:G:C p.(Thr149Ser) NC_000017.11:43099872:G:C p.(Thr149Ser) NC_000017.11:43099872:G:C Identity +NM_000051.4:c.4997A>C NP_000042.3:p.Glu1666Ala NC_000011.10:108297373:A:C p.(Glu1666Ala) NC_000011.10:108297373:A:C p.(Glu1666Ala) NC_000011.10:108297373:A:C Identity +NM_001282948.2:c.979G>A NP_001269877.1:p.Val327Ile NC_000010.11:63214641:C:T p.(Val327Ile) NC_000010.11:63214641:C:T p.(Val327Ile) NC_000010.11:63214641:C:T Identity +NM_001005407.2:c.1835A>C NP_001005407.1:p.Asn612Thr NC_000016.10:1202284:A:C p.(Asn612Thr) NC_000016.10:1202284:A:C p.(Asn612Thr) NC_000016.10:1202284:A:C Identity +NM_001201459.2:c.1391C>A NP_001188388.1:p.Pro464Gln NC_000002.12:27377593:G:T p.(Pro464Gln) NC_000002.12:27377593:G:T p.(Pro464Gln) NC_000002.12:27377593:G:T Identity +NM_000545.8:c.1524G>T NP_000536.6:p.Glu508Asp NC_000012.12:120999289:G:T p.(Glu508Asp) NC_000012.12:120999289:G:T p.(Glu508Asp) NC_000012.12:120999289:G:T Identity +NM_000268.4:c.1511G>T NP_000259.1:p.Ser504Ile NC_000022.11:29678259:G:T p.(Ser504Ile) NC_000022.11:29678259:G:T p.(Ser504Ile) NC_000022.11:29678259:G:T Identity +NM_001195573.1:c.4111G>A NP_001182502.1:p.Val1371Met NC_000014.9:95099874:C:T p.(Val1371Met) NC_000014.9:95099874:C:T p.(Val1371Met) NC_000014.9:95099874:C:T Identity +NM_001304418.3:c.110C>G NP_001291347.1:p.Ser37Trp NC_000003.12:69122276:G:C p.(Ser37Trp) NC_000003.12:69122276:G:C p.(Ser37Trp) NC_000003.12:69122276:G:C Identity +NM_001165928.4:c.1300C>T NP_001159400.3:p.Pro434Ser NC_000003.12:49531810:C:T p.(Pro434Ser) NC_000003.12:49531810:C:T p.(Pro434Ser) NC_000003.12:49531810:C:T Identity +NM_001081676.2:c.2980A>C NP_001075145.1:p.Asn994His NC_000002.12:165127896:T:G p.(Asn994His) NC_000002.12:165127896:T:G p.(Asn994His) NC_000002.12:165127896:T:G Identity +NM_001282237.2:c.1521G>C NP_001269166.1:p.Glu507Asp NC_000014.9:99175311:C:G p.(Glu507Asp) NC_000014.9:99175311:C:G p.(Glu507Asp) NC_000014.9:99175311:C:G Identity +NM_001346897.2:c.2442del NP_001333826.1:p.Lys815fs NC_000007.14:55191824:CC:C p.(Lys815AsnfsTer43) NC_000007.14:55191824:CC:C p.(Lys815AsnfsTer43) NC_000007.14:55191825:C: Analogous +NM_000251.3:c.847G>C NP_000242.1:p.Asp283His NC_000002.12:47414322:G:C p.(Asp283His) NC_000002.12:47414322:G:C p.(Asp283His) NC_000002.12:47414322:G:C Identity +NM_014714.4:c.570T>G NP_055529.2:p.Ser190Arg NC_000016.10:1592239:A:C p.(Ser190Arg) NC_000016.10:1592239:A:C p.(Ser190Arg) NC_000016.10:1592239:A:C Identity +NM_001100112.2:c.4798G>A NP_001093582.1:p.Val1600Met NC_000017.11:10524929:C:T p.(Val1600Met) NC_000017.11:10524929:C:T p.(Val1600Met) NC_000017.11:10524929:C:T Identity +NM_017617.5:c.1750G>A NP_060087.3:p.Val584Ile NC_000009.12:136515635:C:T p.(Val584Ile) NC_000009.12:136515635:C:T p.(Val584Ile) NC_000009.12:136515635:C:T Identity +NM_001282948.2:c.2582A>G NP_001269877.1:p.Glu861Gly NC_000010.11:63208540:T:C p.(Glu861Gly) NC_000010.11:63208540:T:C p.(Glu861Gly) NC_000010.11:63208540:T:C Identity +NM_004329.3:c.722G>C NP_004320.2:p.Gly241Ala NC_000010.11:86917179:G:C p.(Gly241Ala) NC_000010.11:86917179:G:C p.(Gly241Ala) NC_000010.11:86917179:G:C Identity +NM_002890.3:c.473C>G NP_002881.1:p.Ser158Cys NC_000005.10:87268923:C:G p.(Ser158Cys) NC_000005.10:87268923:C:G p.(Ser158Cys) NC_000005.10:87268923:C:G Identity +NM_001166136.2:c.356A>G NP_001159608.1:p.Asn119Ser NC_000004.12:5689266:T:C p.(Asn119Ser) NC_000004.12:5689266:T:C p.(Asn119Ser) NC_000004.12:5689266:T:C Identity +NM_000238.4:c.817C>G NP_000229.1:p.Arg273Gly NC_000007.14:150958157:G:C p.(Arg273Gly) NC_000007.14:150958157:G:C p.(Arg273Gly) NC_000007.14:150958157:G:C Identity +NM_001349370.3:c.6679_6681del NP_001336299.1:p.Ser2227del NC_000003.12:47056970:ACTA:A p.(Ser2227del) NC_000003.12:47056970:ACTA:A p.(Ser2227del) NC_000003.12:47056970:ACT: Identity +NM_001164281.3:c.497C>T NP_001157753.1:p.Ala166Val NC_000006.12:111591589:G:A p.(Ala166Val) NC_000006.12:111591589:G:A p.(Ala166Val) NC_000006.12:111591589:G:A Identity +NM_006073.4:c.1622A>G NP_006064.2:p.His541Arg NC_000006.12:123273338:T:C p.(His541Arg) NC_000006.12:123273338:T:C p.(His541Arg) NC_000006.12:123273338:T:C Identity +NM_032520.5:c.119A>G NP_115909.1:p.Asn40Ser NC_000016.10:1352246:A:G p.(Asn40Ser) NC_000016.10:1352246:A:G p.(Asn40Ser) NC_000016.10:1352246:A:G Identity +NM_001005407.2:c.5005C>T NP_001005407.1:p.Arg1669Trp NC_000016.10:1215064:C:T p.(Arg1669Trp) NC_000016.10:1215064:C:T p.(Arg1669Trp) NC_000016.10:1215064:C:T Identity +NM_001012511.3:c.248C>T NP_001012529.1:p.Ala83Val NC_000017.11:46932110:C:T p.(Ala83Val) NC_000017.11:46932110:C:T p.(Ala83Val) NC_000017.11:46932110:C:T Identity +NM_001347827.2:c.1811T>C NP_001334756.1:p.Phe604Ser NC_000004.12:54277411:T:C p.(Phe604Ser) NC_000004.12:54277411:T:C p.(Phe604Ser) NC_000004.12:54277411:T:C Identity +NM_018190.4:c.908A>T NP_060660.2:p.Asp303Val NC_000004.12:121848869:T:A p.(Asp303Val) NC_000004.12:121848869:T:A p.(Asp303Val) NC_000004.12:121848869:T:A Identity +NM_001005360.3:c.1873G>A NP_001005360.1:p.Val625Ile NC_000019.10:10823878:G:A p.(Val625Ile) NC_000019.10:10823878:G:A p.(Val625Ile) NC_000019.10:10823878:G:A Identity +NM_001316690.1:c.2629G>A NP_001303619.1:p.Gly877Arg NC_000008.11:60865714:G:A p.(Gly877Arg) NC_000008.11:60865714:G:A p.(Gly877Arg) NC_000008.11:60865714:G:A Identity +NM_001330209.2:c.2901A>T NP_001317138.1:p.Glu967Asp NC_000023.11:13769089:A:T p.(Glu967Asp) NC_000023.11:13769089:A:T p.(Glu967Asp) NC_000023.11:13769089:A:T Identity +NM_001128844.3:c.170C>G NP_001122316.1:p.Pro57Arg NC_000019.10:10984320:C:G p.(Pro57Arg) NC_000019.10:10984320:C:G p.(Pro57Arg) NC_000019.10:10984320:C:G Identity +NM_001006657.2:c.2182A>C NP_001006658.1:p.Ile728Leu NC_000002.12:19937860:T:G p.(Ile728Leu) NC_000002.12:19937860:T:G p.(Ile728Leu) NC_000002.12:19937860:T:G Identity +NM_181882.3:c.1400A>G NP_870998.2:p.Glu467Gly NC_000019.10:40396951:T:C p.(Glu467Gly) NC_000019.10:40396951:T:C p.(Glu467Gly) NC_000019.10:40396951:T:C Identity +NM_001134771.2:c.2500G>A NP_001128243.1:p.Val834Ile NC_000020.11:46053009:G:A p.(Val834Ile) NC_000020.11:46053009:G:A p.(Val834Ile) NC_000020.11:46053009:G:A Identity +NM_001293306.2:c.2221C>G NP_001280235.2:p.Leu741Val NC_000003.12:38739573:G:C p.(Leu741Val) NC_000003.12:38739573:G:C p.(Leu741Val) NC_000003.12:38739573:G:C Identity +NM_000069.3:c.4295C>T NP_000060.2:p.Pro1432Leu NC_000001.11:201049045:G:A p.(Pro1432Leu) NC_000001.11:201049045:G:A p.(Pro1432Leu) NC_000001.11:201049045:G:A Identity +NM_000051.4:c.3925G>C NP_000042.3:p.Ala1309Pro NC_000011.10:108284404:G:C p.(Ala1309Pro) NC_000011.10:108284404:G:C p.(Ala1309Pro) NC_000011.10:108284404:G:C Identity +NM_001142800.2:c.6104C>A NP_001136272.1:p.Thr2035Asn NC_000006.12:64307056:G:T p.(Thr2035Asn) NC_000006.12:64307056:G:T p.(Thr2035Asn) NC_000006.12:64307056:G:T Identity +NM_001278590.2:c.859T>C NP_001265519.1:p.Tyr287His NC_000004.12:39473132:T:C p.(Tyr287His) NC_000004.12:39473132:T:C p.(Tyr287His) NC_000004.12:39473132:T:C Identity +NM_000156.6:c.232G>A NP_000147.1:p.Val78Met NC_000019.10:1399887:C:T p.(Val78Met) NC_000019.10:1399887:C:T p.(Val78Met) NC_000019.10:1399887:C:T Identity +NM_014141.6:c.3401T>G NP_054860.1:p.Val1134Gly NC_000007.14:148267051:T:G p.(Val1134Gly) NC_000007.14:148267051:T:G p.(Val1134Gly) NC_000007.14:148267051:T:G Identity +NM_001256789.3:c.1582G>A NP_001243718.1:p.Val528Ile NC_000023.11:49225977:C:T p.(Val528Ile) NC_000023.11:49225977:C:T p.(Val528Ile) NC_000023.11:49225977:C:T Identity +NM_145290.4:c.623C>T NP_660333.2:p.Thr208Met NC_000004.12:22445055:G:A p.(Thr208Met) NC_000004.12:22445055:G:A p.(Thr208Met) NC_000004.12:22445055:G:A Identity +NM_001206927.2:c.4176G>T NP_001193856.1:p.Leu1392Phe NC_000006.12:38828275:G:T p.(Leu1392Phe) NC_000006.12:38828275:G:T p.(Leu1392Phe) NC_000006.12:38828275:G:T Identity +NM_004501.3:c.621G>C NP_004492.2:p.Gln207His NC_000001.11:244863686:C:G p.(Gln207His) NC_000001.11:244863686:C:G p.(Gln207His) NC_000001.11:244863686:C:G Identity +NM_001142763.2:c.2651G>A NP_001136235.1:p.Ser884Asn NC_000010.11:54020306:C:T p.(Ser884Asn) NC_000010.11:54020306:C:T p.(Ser884Asn) NC_000010.11:54020306:C:T Identity +NM_006158.5:c.898GCC[1] NP_006149.2:p.Ala301del NC_000008.11:24955612:GGCGGCG:GGCG p.(Ala301del) NC_000008.11:24955617:C:GGC ERR:Parse ERR:Parse Identity +NM_007254.4:c.1409C>T NP_009185.2:p.Ser470Phe NC_000019.10:49861487:G:A p.(Ser470Phe) NC_000019.10:49861487:G:A p.(Ser470Phe) NC_000019.10:49861487:G:A Identity +NM_017617.5:c.2630C>T NP_060087.3:p.Pro877Leu NC_000009.12:136510762:G:A p.(Pro877Leu) NC_000009.12:136510762:G:A p.(Pro877Leu) NC_000009.12:136510762:G:A Identity +NM_001297644.1:c.701A>T NP_001284573.1:p.Asp234Val NC_000005.10:64800278:A:T p.(Asp234Val) NC_000005.10:64800278:A:T p.(Asp234Val) NC_000005.10:64800278:A:T Identity +NM_000724.4:c.884G>C NP_000715.2:p.Ser295Thr NC_000010.11:18527691:G:C p.(Ser295Thr) NC_000010.11:18527691:G:C p.(Ser295Thr) NC_000010.11:18527691:G:C Identity +NM_000702.4:c.2432_2433delinsAC NP_000693.1:p.Thr811Asn NC_000001.11:160135985:CA:AC p.(Thr811Asn) NC_000001.11:160135985:CA:AC p.(Thr811Asn) NC_000001.11:160135985:CA:AC Identity +NM_000445.5:c.2069G>A NP_000436.2:p.Arg690Gln NC_000008.11:143932223:C:T p.(Arg690Gln) NC_000008.11:143932223:C:T p.(Arg690Gln) NC_000008.11:143932223:C:T Identity +NM_001297644.1:c.1042G>A NP_001284573.1:p.Glu348Lys NC_000005.10:64885545:G:A p.(Glu348Lys) NC_000005.10:64885545:G:A p.(Glu348Lys) NC_000005.10:64885545:G:A Identity +NM_001048210.3:c.1244C>T NP_001041675.1:p.Thr415Met NC_000001.11:108937215:G:A p.(Thr415Met) NC_000001.11:108937215:G:A p.(Thr415Met) NC_000001.11:108937215:G:A Identity +NM_001014797.3:c.3436A>G NP_001014797.1:p.Ser1146Gly NC_000010.11:76887378:T:C p.(Ser1146Gly) NC_000010.11:76887378:T:C p.(Ser1146Gly) NC_000010.11:76887378:T:C Identity +NM_005914.4:c.515G>A NP_005905.2:p.Arg172His NC_000008.11:47962776:G:A p.(Arg172His) NC_000008.11:47962776:G:A p.(Arg172His) NC_000008.11:47962776:G:A Identity +NM_015243.3:c.1553C>T NP_056058.2:p.Thr518Ile NC_000008.11:99135722:C:T p.(Thr518Ile) NC_000008.11:99135722:C:T p.(Thr518Ile) NC_000008.11:99135722:C:T Identity +NM_000260.4:c.655A>G NP_000251.3:p.Ile219Val NC_000011.10:77156923:A:G p.(Ile219Val) NC_000011.10:77156923:A:G p.(Ile219Val) NC_000011.10:77156923:A:G Identity +NM_001382394.1:c.826T>A NP_001369323.1:p.Phe276Ile NC_000002.12:39051160:A:T p.(Phe276Ile) NC_000002.12:39051160:A:T p.(Phe276Ile) NC_000002.12:39051160:A:T Identity +NM_001144996.2:c.102C>A NP_001138468.1:p.Phe34Leu NC_000012.12:55707580:G:T p.(Phe34Leu) NC_000012.12:55707580:G:T p.(Phe34Leu) NC_000012.12:55707580:G:T Identity +NM_000118.4:c.704C>T NP_000109.1:p.Thr235Met NC_000009.12:127825342:G:A p.(Thr235Met) NC_000009.12:127825342:G:A p.(Thr235Met) NC_000009.12:127825342:G:A Identity +NM_001178098.2:c.355G>A NP_001171569.1:p.Gly119Arg NC_000016.10:28932611:G:A p.(Gly119Arg) NC_000016.10:28932611:G:A p.(Gly119Arg) NC_000016.10:28932611:G:A Identity +NM_001077620.3:c.55T>A NP_001071088.1:p.Phe19Ile NC_000017.11:76540195:T:A p.(Phe19Ile) NC_000017.11:76540195:T:A p.(Phe19Ile) NC_000017.11:76540195:T:A Identity +NM_001193599.2:c.1076G>C NP_001180528.1:p.Gly359Ala NC_000001.11:53014955:G:C p.(Gly359Ala) NC_000001.11:53014955:G:C p.(Gly359Ala) NC_000001.11:53014955:G:C Identity +NM_001347827.2:c.1544A>C NP_001334756.1:p.Lys515Thr NC_000004.12:54273715:A:C p.(Lys515Thr) NC_000004.12:54273715:A:C p.(Lys515Thr) NC_000004.12:54273715:A:C Identity +NM_000314.8:c.496G>T NP_000305.3:p.Val166Leu NC_000010.11:87952120:G:T p.(Val166Leu) NC_000010.11:87952120:G:T p.(Val166Leu) NC_000010.11:87952120:G:T Identity +NM_015450.3:c.70A>G NP_056265.2:p.Asn24Asp NC_000007.14:124892319:T:C p.(Asn24Asp) NC_000007.14:124892319:T:C p.(Asn24Asp) NC_000007.14:124892319:T:C Identity +NM_000431.4:c.368A>T NP_000422.1:p.Gln123Leu NC_000012.12:109579942:A:T p.(Gln123Leu) NC_000012.12:109579942:A:T p.(Gln123Leu) NC_000012.12:109579942:A:T Identity +NM_001048171.2:c.50C>A NP_001041636.2:p.Ala17Asp NC_000001.11:45334455:G:T p.(Ala17Asp) NC_000001.11:45334455:G:T p.(Ala17Asp) NC_000001.11:45334455:G:T Identity +NM_000335.5:c.340C>T NP_000326.2:p.Leu114Phe NC_000003.12:38630362:G:A p.(Leu114Phe) NC_000003.12:38630362:G:A p.(Leu114Phe) NC_000003.12:38630362:G:A Identity +NM_152309.3:c.2135G>A NP_689522.2:p.Gly712Glu NC_000010.11:96609746:C:T p.(Gly712Glu) NC_000010.11:96609746:C:T p.(Gly712Glu) NC_000010.11:96609746:C:T Identity +NM_017890.5:c.7231A>T NP_060360.3:p.Ile2411Phe NC_000008.11:99766878:A:T p.(Ile2411Phe) NC_000008.11:99766878:A:T p.(Ile2411Phe) NC_000008.11:99766878:A:T Identity +NM_032861.4:c.1640G>A NP_116250.3:p.Arg547His NC_000006.12:158114832:C:T p.(Arg547His) NC_000006.12:158114832:C:T p.(Arg547His) NC_000006.12:158114832:C:T Identity +NM_001330758.2:c.355T>C NP_001317687.1:p.Trp119Arg NC_000005.10:225460:T:C p.(Trp119Arg) NC_000005.10:225460:T:C p.(Trp119Arg) NC_000005.10:225460:T:C Identity +NM_005530.3:c.582C>G NP_005521.1:p.Asn194Lys NC_000015.10:78162337:C:G p.(Asn194Lys) NC_000015.10:78162337:C:G p.(Asn194Lys) NC_000015.10:78162337:C:G Identity +NM_000238.4:c.2891C>T NP_000229.1:p.Pro964Leu NC_000007.14:150947679:G:A p.(Pro964Leu) NC_000007.14:150947679:G:A p.(Pro964Leu) NC_000007.14:150947679:G:A Identity +NM_003280.3:c.336C>G NP_003271.1:p.Ile112Met NC_000003.12:52451508:G:C p.(Ile112Met) NC_000003.12:52451508:G:C p.(Ile112Met) NC_000003.12:52451508:G:C Identity +NM_001195622.2:c.2325T>G NP_001182551.1:p.Ser775Arg NC_000009.12:32542004:A:C p.(Ser775Arg) NC_000009.12:32542004:A:C p.(Ser775Arg) NC_000009.12:32542004:A:C Identity +NM_001130438.3:c.4672C>T NP_001123910.1:p.Arg1558Trp NC_000009.12:128609197:C:T p.(Arg1558Trp) NC_000009.12:128609197:C:T p.(Arg1558Trp) NC_000009.12:128609197:C:T Identity +NM_001144996.2:c.2294C>G NP_001138468.1:p.Thr765Ser NC_000012.12:55694517:G:C p.(Thr765Ser) NC_000012.12:55694517:G:C p.(Thr765Ser) NC_000012.12:55694517:G:C Identity +NM_001316329.2:c.77G>A NP_001303258.1:p.Arg26Lys NC_000019.10:53882570:G:A p.(Arg26Lys) NC_000019.10:53882570:G:A p.(Arg26Lys) NC_000019.10:53882570:G:A Identity +NM_001282368.2:c.1477C>T NP_001269297.1:p.Arg493Ter NC_000006.12:75950674:G:A p.(Arg493Ter) NC_000006.12:75950674:G:A p.(Arg493Ter) NC_000006.12:75950674:G:A Identity +NM_001144881.2:c.1330A>G NP_001138353.1:p.Ile444Val NC_000012.12:42464703:T:C p.(Ile444Val) NC_000012.12:42464703:T:C p.(Ile444Val) NC_000012.12:42464703:T:C Identity +NM_020529.3:c.194C>T NP_065390.1:p.Pro65Leu NC_000014.9:35404450:G:A p.(Pro65Leu) NC_000014.9:35404450:G:A p.(Pro65Leu) NC_000014.9:35404450:G:A Identity +NM_015295.3:c.1033C>G NP_056110.2:p.Gln345Glu NC_000018.10:2694685:C:G p.(Gln345Glu) NC_000018.10:2694685:C:G p.(Gln345Glu) NC_000018.10:2694685:C:G Identity +NM_007055.4:c.3521G>A NP_008986.2:p.Cys1174Tyr NC_000010.11:77982725:C:T p.(Cys1174Tyr) NC_000010.11:77982725:C:T p.(Cys1174Tyr) NC_000010.11:77982725:C:T Identity +NM_001346599.2:c.1764_1765del NP_001333528.1:p.Cys589fs NC_000007.14:105565386:TTT:T p.(Cys589PhefsTer5) NC_000007.14:105565386:TTT:T p.(Cys589PhefsTer5) NC_000007.14:105565387:TT: Analogous +NM_025114.4:c.1850T>C NP_079390.3:p.Ile617Thr NC_000012.12:88115156:A:G p.(Ile617Thr) NC_000012.12:88115156:A:G p.(Ile617Thr) NC_000012.12:88115156:A:G Identity +NM_001256944.2:c.1526G>A NP_001243873.1:p.Arg509Gln NC_000023.11:10213911:G:A p.(Arg509Gln) NC_000023.11:10213911:G:A p.(Arg509Gln) NC_000023.11:10213911:G:A Identity +NM_001127396.3:c.282C>A NP_001120868.1:p.Phe94Leu NC_000019.10:7640774:C:A p.(Phe94Leu) NC_000019.10:7640774:C:A p.(Phe94Leu) NC_000019.10:7640774:C:A Identity +NM_020999.4:c.46G>C NP_066279.2:p.Glu16Gln NC_000010.11:69572997:C:G p.(Glu16Gln) NC_000010.11:69572997:C:G p.(Glu16Gln) NC_000010.11:69572997:C:G Identity +NM_012448.4:c.676C>T NP_036580.2:p.Arg226Cys NC_000017.11:42219716:G:A p.(Arg226Cys) NC_000017.11:42219716:G:A p.(Arg226Cys) NC_000017.11:42219716:G:A Identity +NM_000536.4:c.296C>G NP_000527.2:p.Pro99Arg NC_000011.10:36593872:G:C p.(Pro99Arg) NC_000011.10:36593872:G:C p.(Pro99Arg) NC_000011.10:36593872:G:C Identity +NM_001005407.2:c.3262C>G NP_001005407.1:p.Pro1088Ala NC_000016.10:1208119:C:G p.(Pro1088Ala) NC_000016.10:1208119:C:G p.(Pro1088Ala) NC_000016.10:1208119:C:G Identity +NM_003183.6:c.70C>G NP_003174.3:p.Pro24Ala NC_000002.12:9555535:G:C p.(Pro24Ala) NC_000002.12:9555535:G:C p.(Pro24Ala) NC_000002.12:9555535:G:C Identity +NM_001350626.2:c.1741A>C NP_001337555.1:p.Thr581Pro NC_000007.14:2539207:T:G p.(Thr581Pro) NC_000007.14:2539207:T:G p.(Thr581Pro) NC_000007.14:2539207:T:G Identity +NM_206933.4:c.6963A>C NP_996816.3:p.Glu2321Asp NC_000001.11:215965473:T:G p.(Glu2321Asp) NC_000001.11:215965473:T:G p.(Glu2321Asp) NC_000001.11:215965473:T:G Identity +NM_033087.4:c.434C>T NP_149078.1:p.Thr145Ile NC_000009.12:99218750:G:A p.(Thr145Ile) NC_000009.12:99218750:G:A p.(Thr145Ile) NC_000009.12:99218750:G:A Identity +NM_022124.6:c.6718G>C NP_071407.4:p.Val2240Leu NC_000010.11:71797108:G:C p.(Val2240Leu) NC_000010.11:71797108:G:C p.(Val2240Leu) NC_000010.11:71797108:G:C Identity +NM_001164097.2:c.4841T>C NP_001157569.1:p.Val1614Ala NC_000005.10:83540804:T:C p.(Val1614Ala) NC_000005.10:83540804:T:C p.(Val1614Ala) NC_000005.10:83540804:T:C Identity +NM_001040113.2:c.265G>T NP_001035202.1:p.Asp89Tyr NC_000016.10:15837987:C:A p.(Asp89Tyr) NC_000016.10:15837987:C:A p.(Asp89Tyr) NC_000016.10:15837987:C:A Identity +NM_000143.4:c.648T>G NP_000134.2:p.Asp216Glu NC_000001.11:241508692:A:C p.(Asp216Glu) NC_000001.11:241508692:A:C p.(Asp216Glu) NC_000001.11:241508692:A:C Identity +NM_020361.5:c.786G>T NP_065094.3:p.Arg262Ser NC_000008.11:67483819:C:A p.(Arg262Ser) NC_000008.11:67483819:C:A p.(Arg262Ser) NC_000008.11:67483819:C:A Identity +NM_001347827.2:c.1000C>T NP_001334756.1:p.His334Tyr NC_000004.12:54267619:C:T p.(His334Tyr) NC_000004.12:54267619:C:T p.(His334Tyr) NC_000004.12:54267619:C:T Identity +NM_016938.5:c.296C>T NP_058634.4:p.Pro99Leu NC_000011.10:65871227:G:A p.(Pro99Leu) NC_000011.10:65871227:G:A p.(Pro99Leu) NC_000011.10:65871227:G:A Identity +NM_000548.5:c.4625C>A NP_000539.2:p.Thr1542Asn NC_000016.10:2085284:C:A p.(Thr1542Asn) NC_000016.10:2085284:C:A p.(Thr1542Asn) NC_000016.10:2085284:C:A Identity +NM_000526.5:c.1223T>A NP_000517.3:p.Leu408Gln NC_000017.11:41583285:A:T p.(Leu408Gln) NC_000017.11:41583285:A:T p.(Leu408Gln) NC_000017.11:41583285:A:T Identity +NM_000228.3:c.2047del NP_000219.2:p.Glu683fs NC_000001.11:209623929:CC:C p.(Glu683ArgfsTer24) NC_000001.11:209623929:CC:C p.(Glu683ArgfsTer24) NC_000001.11:209623929:C: Analogous +NM_000210.4:c.1286C>A NP_000201.2:p.Ser429Ter NC_000002.12:172476410:C:A p.(Ser429Ter) NC_000002.12:172476410:C:A p.(Ser429Ter) NC_000002.12:172476410:C:A Identity +NM_000350.3:c.5924G>T NP_000341.2:p.Gly1975Val NC_000001.11:94007714:C:A p.(Gly1975Val) NC_000001.11:94007714:C:A p.(Gly1975Val) NC_000001.11:94007714:C:A Identity +NM_000512.5:c.287G>T NP_000503.1:p.Gly96Val NC_000016.10:88841928:C:A p.(Gly96Val) NC_000016.10:88841928:C:A p.(Gly96Val) NC_000016.10:88841928:C:A Identity +NM_000512.5:c.488C>A NP_000503.1:p.Pro163His NC_000016.10:88837699:G:T p.(Pro163His) NC_000016.10:88837699:G:T p.(Pro163His) NC_000016.10:88837699:G:T Identity +NM_000512.5:c.1159G>A NP_000503.1:p.Gly387Ser NC_000016.10:88824849:C:T p.(Gly387Ser) NC_000016.10:88824849:C:T p.(Gly387Ser) NC_000016.10:88824849:C:T Identity +NM_000512.5:c.608C>T NP_000503.1:p.Ala203Val NC_000016.10:88836225:G:A p.(Ala203Val) NC_000016.10:88836225:G:A p.(Ala203Val) NC_000016.10:88836225:G:A Identity +NM_000512.5:c.977G>C NP_000503.1:p.Trp326Ser NC_000016.10:88832022:C:G p.(Trp326Ser) NC_000016.10:88832022:C:G p.(Trp326Ser) NC_000016.10:88832022:C:G Identity +NM_000512.5:c.119A>G NP_000503.1:p.Asp40Gly NC_000016.10:88856758:T:C p.(Asp40Gly) NC_000016.10:88856758:T:C p.(Asp40Gly) NC_000016.10:88856758:T:C Identity +NM_000512.5:c.239C>G NP_000503.1:p.Ser80Trp NC_000016.10:88842710:G:C p.(Ser80Trp) NC_000016.10:88842710:G:C p.(Ser80Trp) NC_000016.10:88842710:G:C Identity +NM_000512.5:c.423G>T NP_000503.1:p.Trp141Cys NC_000016.10:88837764:C:A p.(Trp141Cys) NC_000016.10:88837764:C:A p.(Trp141Cys) NC_000016.10:88837764:C:A Identity +NM_000512.5:c.1043C>A NP_000503.1:p.Thr348Asn NC_000016.10:88826797:G:T p.(Thr348Asn) NC_000016.10:88826797:G:T p.(Thr348Asn) NC_000016.10:88826797:G:T Identity +NM_000512.5:c.1498G>A NP_000503.1:p.Gly500Ser NC_000016.10:88814509:C:T p.(Gly500Ser) NC_000016.10:88814509:C:T p.(Gly500Ser) NC_000016.10:88814509:C:T Identity +NM_000268.4:c.1069G>A NP_000259.1:p.Glu357Lys NC_000022.11:29671894:G:A p.(Glu357Lys) NC_000022.11:29671894:G:A p.(Glu357Lys) NC_000022.11:29671894:G:A Identity +NM_001024843.2:c.1555C>T NP_001020014.1:p.Gln519Ter NC_000022.11:40301179:C:T p.(Gln519Ter) NC_000022.11:40301179:C:T p.(Gln519Ter) NC_000022.11:40301179:C:T Identity +NM_001165963.4:c.5581C>T NP_001159435.1:p.Arg1861Trp NC_000002.12:165991693:G:A p.(Arg1861Trp) NC_000002.12:165991693:G:A p.(Arg1861Trp) NC_000002.12:165991693:G:A Identity +NM_000512.5:c.1070del NP_000503.1:p.Pro357fs NC_000016.10:88826770:GG:G p.(Pro357ArgfsTer21) NC_000016.10:88826770:GG:G p.(Pro357ArgfsTer21) NC_000016.10:88826770:G: Analogous +NM_000512.5:c.1355dup NP_000503.1:p.Leu454fs NC_000016.10:88822597:AA:AAA p.(Leu454ProfsTer49) NC_000016.10:88822597:AA:AAA p.(Leu454ProfsTer49) ERR:SPDI Analogous +NM_001346505.2:c.1394G>A NP_001333434.1:p.Ser465Asn NC_000006.12:148531625:G:A p.(Ser465Asn) NC_000006.12:148531625:G:A p.(Ser465Asn) NC_000006.12:148531625:G:A Identity +NM_006903.4:c.599G>T NP_008834.3:p.Gly200Val NC_000004.12:105399133:C:A p.(Gly200Val) NC_000004.12:105399133:C:A p.(Gly200Val) NC_000004.12:105399133:C:A Identity +NM_000441.2:c.2069T>A NP_000432.1:p.Val690Glu NC_000007.14:107704364:T:A p.(Val690Glu) NC_000007.14:107704364:T:A p.(Val690Glu) NC_000007.14:107704364:T:A Identity +NM_001256182.2:c.5977C>T NP_001243111.1:p.Arg1993Cys NC_000016.10:89280564:G:A p.(Arg1993Cys) NC_000016.10:89280564:G:A p.(Arg1993Cys) NC_000016.10:89280564:G:A Identity +NM_001349608.2:c.2212T>C NP_001336537.1:p.Ser738Pro NC_000001.11:7664848:T:C p.(Ser738Pro) NC_000001.11:7664848:T:C p.(Ser738Pro) NC_000001.11:7664848:T:C Identity +NM_001385907.1:c.1160A>G NP_001372836.1:p.Asn387Ser NC_000009.12:32487990:T:C p.(Asn387Ser) NC_000009.12:32487990:T:C p.(Asn387Ser) NC_000009.12:32487990:T:C Identity +LRG_247t1:c.4504G>A LRG_247p1:p.Ala1502Thr NC_000012.12:885307:G:A ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:Data provider error: ValueError: Transcript LRG_247t1 not found ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_247t1, alt_ac=LRG_247t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_247t1 not found +NM_001282142.2:c.608G>A NP_001269071.1:p.Ser203Asn NC_000023.11:49034213:C:T p.(Ser203Asn) NC_000023.11:49034213:C:T p.(Ser203Asn) NC_000023.11:49034213:C:T Identity +NM_173354.5:c.803C>A NP_775490.2:p.Thr268Asn NC_000021.9:43420402:G:T p.(Thr268Asn) NC_000021.9:43420402:G:T p.(Thr268Asn) NC_000021.9:43420402:G:T Identity +NM_000384.3:c.8794G>A NP_000375.3:p.Ala2932Thr NC_000002.12:21008073:C:T p.(Ala2932Thr) NC_000002.12:21008073:C:T p.(Ala2932Thr) NC_000002.12:21008073:C:T Identity +NM_005245.4:c.4309A>G NP_005236.2:p.Thr1437Ala NC_000004.12:186633697:T:C p.(Thr1437Ala) NC_000004.12:186633697:T:C p.(Thr1437Ala) NC_000004.12:186633697:T:C Identity +NM_198834.3:c.3132C>G NP_942131.1:p.Asp1044Glu NC_000017.11:37235088:G:C p.(Asp1044Glu) NC_000017.11:37235088:G:C p.(Asp1044Glu) NC_000017.11:37235088:G:C Identity +NM_015180.6:c.775C>G NP_055995.4:p.Leu259Val NC_000014.9:63954902:C:G p.(Leu259Val) NC_000014.9:63954902:C:G p.(Leu259Val) NC_000014.9:63954902:C:G Identity +NM_006264.3:c.865G>A NP_006255.1:p.Gly289Ser NC_000004.12:86701470:G:A p.(Gly289Ser) NC_000004.12:86701470:G:A p.(Gly289Ser) NC_000004.12:86701470:G:A Identity +NM_001282688.2:c.692A>G NP_001269617.1:p.Asn231Ser NC_000009.12:89328779:A:G p.(Asn231Ser) NC_000009.12:89328779:A:G p.(Asn231Ser) NC_000009.12:89328779:A:G Identity +NM_000179.3:c.2291C>G NP_000170.1:p.Thr764Ser NC_000002.12:47800273:C:G p.(Thr764Ser) NC_000002.12:47800273:C:G p.(Thr764Ser) NC_000002.12:47800273:C:G Identity +NM_032208.3:c.1367C>T NP_115584.1:p.Ala456Val NC_000002.12:69193347:C:T p.(Ala456Val) NC_000002.12:69193347:C:T p.(Ala456Val) NC_000002.12:69193347:C:T Identity +NM_001330520.3:c.5114T>C NP_001317449.1:p.Ile1705Thr NC_000016.10:24820318:T:C p.(Ile1705Thr) NC_000016.10:24820318:T:C p.(Ile1705Thr) NC_000016.10:24820318:T:C Identity +NM_001079846.1:c.1513C>G NP_001073315.1:p.Pro505Ala NC_000016.10:3781252:G:C p.(Pro505Ala) NC_000016.10:3781252:G:C p.(Pro505Ala) NC_000016.10:3781252:G:C Identity +NM_001040667.3:c.910G>A NP_001035757.1:p.Glu304Lys NC_000016.10:67167774:G:A p.(Glu304Lys) NC_000016.10:67167774:G:A p.(Glu304Lys) NC_000016.10:67167774:G:A Identity +NM_000249.4:c.1504A>G NP_000240.1:p.Asn502Asp NC_000003.12:37028877:A:G p.(Asn502Asp) NC_000003.12:37028877:A:G p.(Asn502Asp) NC_000003.12:37028877:A:G Identity +NM_002389.4:c.643G>A NP_002380.3:p.Val215Met NC_000001.11:207761415:G:A p.(Val215Met) NC_000001.11:207761415:G:A p.(Val215Met) NC_000001.11:207761415:G:A Identity +NM_000057.4:c.865A>T NP_000048.1:p.Ile289Phe NC_000015.10:90751851:A:T p.(Ile289Phe) NC_000015.10:90751851:A:T p.(Ile289Phe) NC_000015.10:90751851:A:T Identity +NM_001317830.2:c.491C>T NP_001304759.1:p.Ala164Val NC_000008.11:74315508:G:A p.(Ala164Val) NC_000008.11:74315508:G:A p.(Ala164Val) NC_000008.11:74315508:G:A Identity +NM_001142864.4:c.1970G>A NP_001136336.2:p.Arg657His NC_000016.10:88734676:C:T p.(Arg657His) NC_000016.10:88734676:C:T p.(Arg657His) NC_000016.10:88734676:C:T Identity +NM_001289000.2:c.457C>T NP_001275929.1:p.Arg153Cys NC_000022.11:37096037:G:A p.(Arg153Cys) NC_000022.11:37096037:G:A p.(Arg153Cys) NC_000022.11:37096037:G:A Identity +NM_015139.3:c.707A>G NP_055954.1:p.Tyr236Cys NC_000001.11:67042257:T:C p.(Tyr236Cys) NC_000001.11:67042257:T:C p.(Tyr236Cys) NC_000001.11:67042257:T:C Identity +NM_001256317.3:c.1076C>T NP_001243246.1:p.Ala359Val NC_000021.9:42376655:G:A p.(Ala359Val) NC_000021.9:42376655:G:A p.(Ala359Val) NC_000021.9:42376655:G:A Identity +NM_005245.4:c.10195G>A NP_005236.2:p.Asp3399Asn NC_000004.12:186609193:C:T p.(Asp3399Asn) NC_000004.12:186609193:C:T p.(Asp3399Asn) NC_000004.12:186609193:C:T Identity +NM_001256182.2:c.1402C>T NP_001243111.1:p.Arg468Cys NC_000016.10:89285139:G:A p.(Arg468Cys) NC_000016.10:89285139:G:A p.(Arg468Cys) NC_000016.10:89285139:G:A Identity +NM_001271052.1:c.238G>A NP_001257981.1:p.Gly80Arg NC_000019.10:14772458:C:T p.(Gly80Arg) NC_000019.10:14772458:C:T p.(Gly80Arg) NC_000019.10:14772458:C:T Identity +NM_019066.5:c.1922C>G NP_061939.3:p.Pro641Arg NC_000015.10:23645820:G:C p.(Pro641Arg) NC_000015.10:23645820:G:C p.(Pro641Arg) NC_000015.10:23645820:G:C Identity +NM_001142556.2:c.1128G>C NP_001136028.1:p.Glu376Asp NC_000005.10:163475531:G:C p.(Glu376Asp) NC_000005.10:163475531:G:C p.(Glu376Asp) NC_000005.10:163475531:G:C Identity +NM_000059.4:c.5622_5625del NP_000050.3:p.Ile1874fs NC_000013.11:32339976:TAAG: p.(Ile1874MetfsTer34) NC_000013.11:32339976:TAAG: p.(Ile1874MetfsTer34) NC_000013.11:32339976:TAAG: Analogous +NM_001350953.2:c.535A>T NP_001337882.1:p.Met179Leu NC_000007.14:156763683:T:A p.(Met179Leu) NC_000007.14:156763683:T:A p.(Met179Leu) NC_000007.14:156763683:T:A Identity +NM_001372.4:c.10193G>A NP_001363.2:p.Arg3398Gln NC_000017.11:11871736:G:A p.(Arg3398Gln) NC_000017.11:11871736:G:A p.(Arg3398Gln) NC_000017.11:11871736:G:A Identity +NM_001039141.3:c.1866_1867del NP_001034230.1:p.Asp622fs NC_000022.11:37724420:ATA:A p.(Asp622GlufsTer42) NC_000022.11:37724420:ATA:A p.(Asp622GlufsTer42) NC_000022.11:37724421:TA: Analogous +NM_001371271.1:c.3079C>T NP_001358200.1:p.Arg1027Trp NC_000002.12:120988992:C:T p.(Arg1027Trp) NC_000002.12:120988992:C:T p.(Arg1027Trp) NC_000002.12:120988992:C:T Identity +NM_001178003.2:c.1097A>T NP_001171474.1:p.Asp366Val NC_000012.12:121942631:A:T p.(Asp366Val) NC_000012.12:121942631:A:T p.(Asp366Val) NC_000012.12:121942631:A:T Identity +NM_000025.3:c.452A>G NP_000016.1:p.Lys151Arg NC_000008.11:37966017:T:C p.(Lys151Arg) NC_000008.11:37966017:T:C p.(Lys151Arg) NC_000008.11:37966017:T:C Identity +NM_004839.4:c.430G>A NP_004830.2:p.Ala144Thr NC_000015.10:82859092:C:T p.(Ala144Thr) NC_000015.10:82859092:C:T p.(Ala144Thr) NC_000015.10:82859092:C:T Identity +NM_001318324.2:c.1435C>T NP_001305253.1:p.Pro479Ser NC_000009.12:131144419:C:T p.(Pro479Ser) NC_000009.12:131144419:C:T p.(Pro479Ser) NC_000009.12:131144419:C:T Identity +NM_001145026.2:c.156T>G NP_001138498.1:p.Asn52Lys NC_000012.12:80444841:T:G p.(Asn52Lys) NC_000012.12:80444841:T:G p.(Asn52Lys) NC_000012.12:80444841:T:G Identity +NM_000153.4:c.287A>G NP_000144.2:p.His96Arg NC_000014.9:87988184:T:C p.(His96Arg) NC_000014.9:87988184:T:C p.(His96Arg) NC_000014.9:87988184:T:C Identity +NM_001354768.3:c.496A>T NP_001341697.1:p.Thr166Ser NC_000014.9:24081453:T:A p.(Thr166Ser) NC_000014.9:24081453:T:A p.(Thr166Ser) NC_000014.9:24081453:T:A Identity +NM_018230.3:c.1837G>A NP_060700.2:p.Asp613Asn NC_000001.11:229475651:C:T p.(Asp613Asn) NC_000001.11:229475651:C:T p.(Asp613Asn) NC_000001.11:229475651:C:T Identity +NM_000603.5:c.2554C>T NP_000594.2:p.Pro852Ser NC_000007.14:151010155:C:T p.(Pro852Ser) NC_000007.14:151010155:C:T p.(Pro852Ser) NC_000007.14:151010155:C:T Identity +NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gly291fs NC_000014.9:92071010::TGCTGCTGCTGCTGCTG p.(Gly291GlnfsTer31) NC_000014.9:92071009:C:TGCTGCTGCTGCTGCTG p.(Gly291GlnfsTer31) NC_000014.9:92071010:CC:TGCTGCTGCTGCTGCTG Analogous +NM_001284214.2:c.4036A>G NP_001271143.1:p.Ile1346Val NC_000002.12:229792996:T:C p.(Ile1346Val) NC_000002.12:229792996:T:C p.(Ile1346Val) NC_000002.12:229792996:T:C Identity +NM_001256071.3:c.6713G>T NP_001243000.2:p.Ser2238Ile NC_000017.11:80345047:G:T p.(Ser2238Ile) NC_000017.11:80345047:G:T p.(Ser2238Ile) NC_000017.11:80345047:G:T Identity +NM_006392.4:c.1357C>T NP_006383.2:p.Arg453Trp NC_000020.11:2657155:C:T p.(Arg453Trp) NC_000020.11:2657155:C:T p.(Arg453Trp) NC_000020.11:2657155:C:T Identity +NM_001105206.3:c.4198T>A NP_001098676.2:p.Tyr1400Asn NC_000006.12:112129010:A:T p.(Tyr1400Asn) NC_000006.12:112129010:A:T p.(Tyr1400Asn) NC_000006.12:112129010:A:T Identity +NM_001100118.2:c.925G>A NP_001093588.1:p.Gly309Ser NC_000014.9:103698913:C:T p.(Gly309Ser) NC_000014.9:103698913:C:T p.(Gly309Ser) NC_000014.9:103698913:C:T Identity +NM_057093.2:c.286C>T NP_476434.1:p.Arg96Trp NC_000002.12:218992118:G:A p.(Arg96Trp) NC_000002.12:218992118:G:A p.(Arg96Trp) NC_000002.12:218992118:G:A Identity +NM_199002.2:c.29C>T NP_945353.1:p.Pro10Leu NC_000019.10:41888065:C:T p.(Pro10Leu) NC_000019.10:41888065:C:T p.(Pro10Leu) NC_000019.10:41888065:C:T Identity +NM_001346201.2:c.182C>T NP_001333130.1:p.Thr61Met NC_000012.12:63984060:C:T p.(Thr61Met) NC_000012.12:63984060:C:T p.(Thr61Met) NC_000012.12:63984060:C:T Identity +NM_001164665.2:c.5351A>T NP_001158137.1:p.Gln1784Leu NC_000007.14:138844417:T:A p.(Gln1784Leu) NC_000007.14:138844417:T:A p.(Gln1784Leu) NC_000007.14:138844417:T:A Identity +NM_006158.5:c.64C>G NP_006149.2:p.Pro22Ala NC_000008.11:24956451:G:C p.(Pro22Ala) NC_000008.11:24956451:G:C p.(Pro22Ala) NC_000008.11:24956451:G:C Identity +NM_006231.4:c.550A>G NP_006222.2:p.Ser184Gly NC_000012.12:132679524:T:C p.(Ser184Gly) NC_000012.12:132679524:T:C p.(Ser184Gly) NC_000012.12:132679524:T:C Identity +NM_001254718.3:c.1339G>C NP_001241647.1:p.Gly447Arg NC_000012.12:101651280:G:C p.(Gly447Arg) NC_000012.12:101651280:G:C p.(Gly447Arg) NC_000012.12:101651280:G:C Identity +NM_001291997.2:c.795C>G NP_001278926.1:p.Asn265Lys NC_000016.10:79211684:C:G p.(Asn265Lys) NC_000016.10:79211684:C:G p.(Asn265Lys) NC_000016.10:79211684:C:G Identity +NM_004369.4:c.1067G>A NP_004360.2:p.Gly356Glu NC_000002.12:237387826:C:T p.(Gly356Glu) NC_000002.12:237387826:C:T p.(Gly356Glu) NC_000002.12:237387826:C:T Identity +NM_000051.4:c.5506G>A NP_000042.3:p.Asp1836Asn NC_000011.10:108304683:G:A p.(Asp1836Asn) NC_000011.10:108304683:G:A p.(Asp1836Asn) NC_000011.10:108304683:G:A Identity +NM_000211.5:c.1126G>A NP_000202.3:p.Asp376Asn NC_000021.9:44893501:C:T p.(Asp376Asn) NC_000021.9:44893501:C:T p.(Asp376Asn) NC_000021.9:44893501:C:T Identity +NM_001077186.2:c.1183G>A NP_001070654.1:p.Asp395Asn NC_000019.10:50244309:G:A p.(Asp395Asn) NC_000019.10:50244309:G:A p.(Asp395Asn) NC_000019.10:50244309:G:A Identity +NM_007332.3:c.1372C>T NP_015628.2:p.Arg458Cys NC_000008.11:72055592:G:A p.(Arg458Cys) NC_000008.11:72055592:G:A p.(Arg458Cys) NC_000008.11:72055592:G:A Identity +NM_000118.4:c.1385A>G NP_000109.1:p.Gln462Arg NC_000009.12:127818758:T:C p.(Gln462Arg) NC_000009.12:127818758:T:C p.(Gln462Arg) NC_000009.12:127818758:T:C Identity +NM_000719.7:c.3995G>A NP_000710.5:p.Arg1332Gln NC_000012.12:2651688:G:A p.(Arg1332Gln) NC_000012.12:2651688:G:A p.(Arg1332Gln) NC_000012.12:2651688:G:A Identity +NM_000109.4:c.1573C>G NP_000100.3:p.Leu525Val NC_000023.11:32595761:G:C p.(Leu525Val) NC_000023.11:32595761:G:C p.(Leu525Val) NC_000023.11:32595761:G:C Identity +NM_030793.5:c.2096A>T NP_110420.3:p.Asp699Val NC_000005.10:148427389:A:T p.(Asp699Val) NC_000005.10:148427389:A:T p.(Asp699Val) NC_000005.10:148427389:A:T Identity +NM_000350.3:c.1460G>C NP_000341.2:p.Arg487Pro NC_000001.11:94077783:C:G p.(Arg487Pro) NC_000001.11:94077783:C:G p.(Arg487Pro) NC_000001.11:94077783:C:G Identity +NM_001270399.2:c.377C>T NP_001257328.1:p.Ala126Val NC_000012.12:49185988:G:A p.(Ala126Val) NC_000012.12:49185988:G:A p.(Ala126Val) NC_000012.12:49185988:G:A Identity +NM_014003.4:c.3182C>T NP_054722.2:p.Ser1061Leu NC_000016.10:72108533:C:T p.(Ser1061Leu) NC_000016.10:72108533:C:T p.(Ser1061Leu) NC_000016.10:72108533:C:T Identity +NM_000246.4:c.482C>G NP_000237.2:p.Ala161Gly NC_000016.10:10902037:C:G p.(Ala161Gly) NC_000016.10:10902037:C:G p.(Ala161Gly) NC_000016.10:10902037:C:G Identity +NM_001164716.1:c.2103C>G NP_001158188.1:p.Ser701Arg NC_000011.10:64746932:G:C p.(Ser701Arg) NC_000011.10:64746932:G:C p.(Ser701Arg) NC_000011.10:64746932:G:C Identity +NM_006231.4:c.2310del NP_006222.2:p.Leu771fs NC_000012.12:132667511:CCC:CC p.(Leu771SerfsTer21) NC_000012.12:132667511:CCC:CC p.(Leu771SerfsTer21) NC_000012.12:132667511:C: Analogous +NM_001048171.2:c.842G>T NP_001041636.2:p.Arg281Leu NC_000001.11:45332172:C:A p.(Arg281Leu) NC_000001.11:45332172:C:A p.(Arg281Leu) NC_000001.11:45332172:C:A Identity +NM_000323.2:c.394C>G NP_000314.1:p.Leu132Val NC_000010.11:43102397:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000109.4:c.6299G>A NP_000100.3:p.Arg2100His NC_000023.11:32217030:C:T p.(Arg2100His) NC_000023.11:32217030:C:T p.(Arg2100His) NC_000023.11:32217030:C:T Identity +NM_001105206.3:c.3304A>G NP_001098676.2:p.Met1102Val NC_000006.12:112136232:T:C p.(Met1102Val) NC_000006.12:112136232:T:C p.(Met1102Val) NC_000006.12:112136232:T:C Identity +NM_001365536.1:c.252C>A NP_001352465.1:p.Asp84Glu NC_000002.12:166311504:G:T p.(Asp84Glu) NC_000002.12:166311504:G:T p.(Asp84Glu) NC_000002.12:166311504:G:T Identity +NM_001256267.2:c.1078G>A NP_001243196.1:p.Gly360Arg NC_000010.11:68143114:G:A p.(Gly360Arg) NC_000010.11:68143114:G:A p.(Gly360Arg) NC_000010.11:68143114:G:A Identity +NM_001163022.3:c.645_646delinsTT NP_001156494.1:p.Pro216Ser NC_000020.11:21162418:GC:TT p.(Pro216Ser) NC_000020.11:21162418:GC:TT p.(Pro216Ser) NC_000020.11:21162418:GC:TT Identity +NM_000350.3:c.2897G>A NP_000341.2:p.Gly966Glu NC_000001.11:94046939:C:T p.(Gly966Glu) NC_000001.11:94046939:C:T p.(Gly966Glu) NC_000001.11:94046939:C:T Identity +NM_080605.4:c.549G>A NP_542172.2:p.Trp183Ter NC_000001.11:1232826:G:A p.(Trp183Ter) NC_000001.11:1232826:G:A p.(Trp183Ter) NC_000001.11:1232826:G:A Identity +NM_001243027.3:c.437G>A NP_001229956.1:p.Arg146Lys NC_000019.10:40240060:C:T p.(Arg146Lys) NC_000019.10:40240060:C:T p.(Arg146Lys) NC_000019.10:40240060:C:T Identity +NM_001277115.2:c.9718G>A NP_001264044.1:p.Ala3240Thr NC_000007.14:21786743:G:A p.(Ala3240Thr) NC_000007.14:21786743:G:A p.(Ala3240Thr) NC_000007.14:21786743:G:A Identity +NM_020754.4:c.559A>C NP_065805.2:p.Thr187Pro NC_000003.12:119383102:A:C p.(Thr187Pro) NC_000003.12:119383102:A:C p.(Thr187Pro) NC_000003.12:119383102:A:C Identity +NM_000492.4:c.1502C>T NP_000483.3:p.Thr501Ile NC_000007.14:117559572:C:T p.(Thr501Ile) NC_000007.14:117559572:C:T p.(Thr501Ile) NC_000007.14:117559572:C:T Identity +NM_000214.3:c.3562G>A NP_000205.1:p.Gly1188Ser NC_000020.11:10639592:C:T p.(Gly1188Ser) NC_000020.11:10639592:C:T p.(Gly1188Ser) NC_000020.11:10639592:C:T Identity +NM_000548.5:c.2556G>T NP_000539.2:p.Arg852Ser NC_000016.10:2075808:G:T p.(Arg852Ser) NC_000016.10:2075808:G:T p.(Arg852Ser) NC_000016.10:2075808:G:T Identity +NM_003373.4:c.597del NP_003364.1:p.Glu200fs NC_000010.11:74072824:AAA:AA p.(Glu200SerfsTer10) NC_000010.11:74072824:AAA:AA p.(Glu200SerfsTer10) NC_000010.11:74072826:A: Analogous +NM_033071.5:c.19767_19768delinsAA NP_149062.2:p.Gln6590Lys NC_000006.12:152239618:GG:TT p.(Gln6590Lys) NC_000006.12:152239618:GG:TT p.(Gln6590Lys) NC_000006.12:152239618:GG:TT Identity +NM_012193.4:c.1202T>C NP_036325.2:p.Ile401Thr NC_000011.10:86951553:A:G p.(Ile401Thr) NC_000011.10:86951553:A:G p.(Ile401Thr) NC_000011.10:86951553:A:G Identity +NM_001160227.2:c.3266T>G NP_001153699.1:p.Met1089Arg NC_000015.10:44610864:A:C p.(Met1089Arg) NC_000015.10:44610864:A:C p.(Met1089Arg) NC_000015.10:44610864:A:C Identity +NM_006767.4:c.2089C>T NP_006758.2:p.Arg697Trp NC_000022.11:20995981:C:T p.(Arg697Trp) NC_000022.11:20995981:C:T p.(Arg697Trp) NC_000022.11:20995981:C:T Identity +NM_000378.6:c.595A>G NP_000369.4:p.Arg199Gly NC_000011.10:32434765:T:C p.(Arg199Gly) NC_000011.10:32434765:T:C p.(Arg199Gly) NC_000011.10:32434765:T:C Identity +NM_001256850.1:c.17016C>G NP_001243779.1:p.Tyr5672Ter NC_000002.12:178730565:G:C p.(Tyr5672Ter) NC_000002.12:178730565:G:C p.(Tyr5672Ter) NC_000002.12:178730565:G:C Identity +NM_001207000.1:c.317G>C NP_001193929.1:p.Arg106Pro NC_000004.12:82429373:C:G p.(Arg106Pro) NC_000004.12:82429373:C:G p.(Arg106Pro) NC_000004.12:82429373:C:G Identity +NM_000057.4:c.1346C>A NP_000048.1:p.Ser449Tyr NC_000015.10:90760718:C:A p.(Ser449Tyr) NC_000015.10:90760718:C:A p.(Ser449Tyr) NC_000015.10:90760718:C:A Identity +NM_000553.6:c.2942T>G NP_000544.2:p.Leu981Arg NC_000008.11:31132480:T:G p.(Leu981Arg) NC_000008.11:31132480:T:G p.(Leu981Arg) NC_000008.11:31132480:T:G Identity +NM_001363813.1:c.2135A>G NP_001350742.1:p.Tyr712Cys NC_000017.11:65533986:T:C p.(Tyr712Cys) NC_000017.11:65533986:T:C p.(Tyr712Cys) NC_000017.11:65533986:T:C Identity +NM_001291902.2:c.1456G>A NP_001278831.1:p.Asp486Asn NC_000011.10:68423659:G:A p.(Asp486Asn) NC_000011.10:68423659:G:A p.(Asp486Asn) NC_000011.10:68423659:G:A Identity +NM_001171933.1:c.2395C>T NP_001165404.1:p.Arg799Trp NC_000010.11:71811351:C:T p.(Arg799Trp) NC_000010.11:71811351:C:T p.(Arg799Trp) NC_000010.11:71811351:C:T Identity +NM_001288747.2:c.332G>A NP_001275676.1:p.Arg111Gln NC_000023.11:154766283:G:A p.(Arg111Gln) NC_000023.11:154766283:G:A p.(Arg111Gln) NC_000023.11:154766283:G:A Identity +NM_017890.5:c.7699GTG[1] NP_060360.3:p.Val2568del NC_000008.11:99778875:GTGGTG:GTG p.(Val2568del) NC_000008.11:99778875:G:GTG ERR:Parse ERR:Parse Identity +NM_001037537.2:c.374G>T NP_001032626.1:p.Trp125Leu NC_000010.11:13288363:C:A p.(Trp125Leu) NC_000010.11:13288363:C:A p.(Trp125Leu) NC_000010.11:13288363:C:A Identity +NM_000179.3:c.1768C>T NP_000170.1:p.Pro590Ser NC_000002.12:47799750:C:T p.(Pro590Ser) NC_000002.12:47799750:C:T p.(Pro590Ser) NC_000002.12:47799750:C:T Identity +NM_001122769.3:c.2057C>G NP_001116241.1:p.Ser686Cys NC_000006.12:79487040:G:C p.(Ser686Cys) NC_000006.12:79487040:G:C p.(Ser686Cys) NC_000006.12:79487040:G:C Identity +NM_005045.4:c.525G>C NP_005036.2:p.Gln175His NC_000007.14:103776575:C:G p.(Gln175His) NC_000007.14:103776575:C:G p.(Gln175His) NC_000007.14:103776575:C:G Identity +NM_001127511.3:c.3454A>C NP_001120983.2:p.Lys1152Gln NC_000005.10:112839101:A:C p.(Lys1152Gln) NC_000005.10:112839101:A:C p.(Lys1152Gln) NC_000005.10:112839101:A:C Identity +NM_001378454.1:c.7780C>T NP_001365383.1:p.His2594Tyr NC_000002.12:73489738:C:T p.(His2594Tyr) NC_000002.12:73489738:C:T p.(His2594Tyr) NC_000002.12:73489738:C:T Identity +NM_001352252.2:c.98A>C NP_001339181.1:p.Gln33Pro NC_000013.11:110667374:T:G p.(Gln33Pro) NC_000013.11:110667374:T:G p.(Gln33Pro) NC_000013.11:110667374:T:G Identity +NM_020988.3:c.388C>T NP_066268.1:p.Arg130Trp NC_000016.10:56328714:C:T p.(Arg130Trp) NC_000016.10:56328714:C:T p.(Arg130Trp) NC_000016.10:56328714:C:T Identity +NM_001135669.2:c.1139G>A NP_001129141.1:p.Arg380Gln NC_000001.11:180834877:G:A p.(Arg380Gln) NC_000001.11:180834877:G:A p.(Arg380Gln) NC_000001.11:180834877:G:A Identity +NM_001178129.2:c.299C>T NP_001171600.1:p.Ser100Leu NC_000007.14:83418460:G:A p.(Ser100Leu) NC_000007.14:83418460:G:A p.(Ser100Leu) NC_000007.14:83418460:G:A Identity +NM_001306129.2:c.4052C>T NP_001293058.2:p.Thr1351Ile NC_000002.12:215392947:G:A p.(Thr1351Ile) NC_000002.12:215392947:G:A p.(Thr1351Ile) NC_000002.12:215392947:G:A Identity +NM_001130420.3:c.1052A>G NP_001123892.1:p.Asn351Ser NC_000012.12:56181005:T:C p.(Asn351Ser) NC_000012.12:56181005:T:C p.(Asn351Ser) NC_000012.12:56181005:T:C Identity +NM_001293306.2:c.4934C>A NP_001280235.2:p.Thr1645Asn NC_000003.12:38698282:G:T p.(Thr1645Asn) NC_000003.12:38698282:G:T p.(Thr1645Asn) NC_000003.12:38698282:G:T Identity +NM_006267.5:c.5725_5727del NP_006258.3:p.Glu1909del NC_000002.12:108766261:AAGAA:AA p.(Glu1909del) NC_000002.12:108766261:AAGAA:AA p.(Glu1909del) NC_000002.12:108766263:GAA: Identity +NM_001244008.2:c.1297A>T NP_001230937.1:p.Ile433Phe NC_000002.12:240771014:T:A p.(Ile433Phe) NC_000002.12:240771014:T:A p.(Ile433Phe) NC_000002.12:240771014:T:A Identity +NM_001291860.2:c.3871G>A NP_001278789.1:p.Ala1291Thr NC_000001.11:21873016:C:T p.(Ala1291Thr) NC_000001.11:21873016:C:T p.(Ala1291Thr) NC_000001.11:21873016:C:T Identity +NM_001378454.1:c.11365C>T NP_001365383.1:p.Arg3789Trp NC_000002.12:73573241:C:T p.(Arg3789Trp) NC_000002.12:73573241:C:T p.(Arg3789Trp) NC_000002.12:73573241:C:T Identity +NM_001142649.2:c.2213T>G NP_001136121.1:p.Val738Gly NC_000011.10:22272969:T:G p.(Val738Gly) NC_000011.10:22272969:T:G p.(Val738Gly) NC_000011.10:22272969:T:G Identity +NM_002863.5:c.275T>C NP_002854.3:p.Met92Thr NC_000014.9:50937805:A:G p.(Met92Thr) NC_000014.9:50937805:A:G p.(Met92Thr) NC_000014.9:50937805:A:G Identity +NM_001143838.3:c.650G>A NP_001137310.1:p.Ser217Asn NC_000017.11:6703035:C:T p.(Ser217Asn) NC_000017.11:6703035:C:T p.(Ser217Asn) NC_000017.11:6703035:C:T Identity +NM_052813.5:c.332G>A NP_434700.2:p.Gly111Glu NC_000009.12:136371135:C:T p.(Gly111Glu) NC_000009.12:136371135:C:T p.(Gly111Glu) NC_000009.12:136371135:C:T Identity +NM_001269039.3:c.428G>A NP_001255968.1:p.Gly143Glu NC_000010.11:110964785:G:A p.(Gly143Glu) NC_000010.11:110964785:G:A p.(Gly143Glu) NC_000010.11:110964785:G:A Identity +NM_001297644.1:c.721C>T NP_001284573.1:p.His241Tyr NC_000005.10:64800298:C:T p.(His241Tyr) NC_000005.10:64800298:C:T p.(His241Tyr) NC_000005.10:64800298:C:T Identity +NM_001164281.3:c.1222del NP_001157753.1:p.Ser408fs NC_000006.12:111572962:AA:A p.(Ser408ArgfsTer9) NC_000006.12:111572962:AA:A p.(Ser408ArgfsTer9) NC_000006.12:111572962:A: Analogous +NM_001042385.2:c.335A>C NP_001035844.1:p.Asn112Thr NC_000002.12:44346274:T:G p.(Asn112Thr) NC_000002.12:44346274:T:G p.(Asn112Thr) NC_000002.12:44346274:T:G Identity +NM_001195573.1:c.2024T>C NP_001182502.1:p.Leu675Pro NC_000014.9:95113107:A:G p.(Leu675Pro) NC_000014.9:95113107:A:G p.(Leu675Pro) NC_000014.9:95113107:A:G Identity +NM_001363813.1:c.592G>A NP_001350742.1:p.Glu198Lys NC_000017.11:65558028:C:T p.(Glu198Lys) NC_000017.11:65558028:C:T p.(Glu198Lys) NC_000017.11:65558028:C:T Identity +NM_001165966.2:c.31C>T NP_001159438.1:p.Pro11Ser NC_000017.11:6538073:G:A p.(Pro11Ser) NC_000017.11:6538073:G:A p.(Pro11Ser) NC_000017.11:6538073:G:A Identity +NM_000717.5:c.592A>G NP_000708.1:p.Thr198Ala NC_000017.11:60158293:A:G p.(Thr198Ala) NC_000017.11:60158293:A:G p.(Thr198Ala) NC_000017.11:60158293:A:G Identity +NM_001278727.2:c.112G>A NP_001265656.1:p.Val38Met NC_000019.10:19194057:G:A p.(Val38Met) NC_000019.10:19194057:G:A p.(Val38Met) NC_000019.10:19194057:G:A Identity +NM_001378454.1:c.3604T>C NP_001365383.1:p.Tyr1202His NC_000002.12:73450130:T:C p.(Tyr1202His) NC_000002.12:73450130:T:C p.(Tyr1202His) NC_000002.12:73450130:T:C Identity +NM_002180.3:c.679A>G NP_002171.2:p.Ile227Val NC_000011.10:68911570:A:G p.(Ile227Val) NC_000011.10:68911570:A:G p.(Ile227Val) NC_000011.10:68911570:A:G Identity +NM_018648.4:c.31G>A NP_061118.1:p.Gly11Arg NC_000015.10:34343042:C:T p.(Gly11Arg) NC_000015.10:34343042:C:T p.(Gly11Arg) NC_000015.10:34343042:C:T Identity +NM_006269.2:c.2923A>G NP_006260.1:p.Ile975Val NC_000008.11:54626804:A:G p.(Ile975Val) NC_000008.11:54626804:A:G p.(Ile975Val) NC_000008.11:54626804:A:G Identity +NM_020376.4:c.409G>A NP_065109.1:p.Glu137Lys NC_000011.10:821848:G:A p.(Glu137Lys) NC_000011.10:821848:G:A p.(Glu137Lys) NC_000011.10:821848:G:A Identity +NM_021831.6:c.2444G>C NP_068603.4:p.Arg815Thr NC_000002.12:27069660:G:C p.(Arg815Thr) NC_000002.12:27069660:G:C p.(Arg815Thr) NC_000002.12:27069660:G:C Identity +NM_001244926.2:c.800C>T NP_001231855.1:p.Thr267Ile NC_000009.12:113286281:C:T p.(Thr267Ile) NC_000009.12:113286281:C:T p.(Thr267Ile) NC_000009.12:113286281:C:T Identity +NM_000388.4:c.229G>T NP_000379.3:p.Ala77Ser NC_000003.12:122257123:G:T p.(Ala77Ser) NC_000003.12:122257123:G:T p.(Ala77Ser) NC_000003.12:122257123:G:T Identity +NM_001185015.2:c.1133G>A NP_001171944.1:p.Arg378Gln NC_000002.12:230200898:C:T p.(Arg378Gln) NC_000002.12:230200898:C:T p.(Arg378Gln) NC_000002.12:230200898:C:T Identity +NM_001363520.3:c.1090C>G NP_001350449.1:p.Pro364Ala NC_000004.12:127921582:G:C p.(Pro364Ala) NC_000004.12:127921582:G:C p.(Pro364Ala) NC_000004.12:127921582:G:C Identity +NM_001136029.4:c.1997C>T NP_001129501.1:p.Ala666Val NC_000022.11:31821627:C:T p.(Ala666Val) NC_000022.11:31821627:C:T p.(Ala666Val) NC_000022.11:31821627:C:T Identity +NM_004656.4:c.439C>T NP_004647.1:p.Pro147Ser NC_000003.12:52407314:G:A p.(Pro147Ser) NC_000003.12:52407314:G:A p.(Pro147Ser) NC_000003.12:52407314:G:A Identity +NM_001127487.2:c.7507G>C NP_001120959.1:p.Gly2503Arg NC_000007.14:128857161:G:C p.(Gly2503Arg) NC_000007.14:128857161:G:C p.(Gly2503Arg) NC_000007.14:128857161:G:C Identity +NM_000310.4:c.98T>A NP_000301.1:p.Leu33Gln NC_000001.11:40097140:A:T p.(Leu33Gln) NC_000001.11:40097140:A:T p.(Leu33Gln) NC_000001.11:40097140:A:T Identity +NM_001110556.2:c.4855C>T NP_001104026.1:p.Leu1619Phe NC_000023.11:154357523:G:A p.(Leu1619Phe) NC_000023.11:154357523:G:A p.(Leu1619Phe) NC_000023.11:154357523:G:A Identity +NM_000388.4:c.2693G>T NP_000379.3:p.Arg898Leu NC_000003.12:122284646:G:T p.(Arg898Leu) NC_000003.12:122284646:G:T p.(Arg898Leu) NC_000003.12:122284646:G:T Identity +NM_001347721.2:c.850A>G NP_001334650.1:p.Ile284Val NC_000021.9:37490386:A:G p.(Ile284Val) NC_000021.9:37490386:A:G p.(Ile284Val) NC_000021.9:37490386:A:G Identity +NM_006269.2:c.4000G>A NP_006260.1:p.Val1334Ile NC_000008.11:54627881:G:A p.(Val1334Ile) NC_000008.11:54627881:G:A p.(Val1334Ile) NC_000008.11:54627881:G:A Identity +NM_001042437.2:c.227A>T NP_001035902.1:p.Tyr76Phe NC_000002.12:85861202:T:A p.(Tyr76Phe) NC_000002.12:85861202:T:A p.(Tyr76Phe) NC_000002.12:85861202:T:A Identity +NM_001290307.3:c.655C>G NP_001277236.1:p.Pro219Ala NC_000005.10:138824595:C:G p.(Pro219Ala) NC_000005.10:138824595:C:G p.(Pro219Ala) NC_000005.10:138824595:C:G Identity +NM_001377291.1:c.503C>T NP_001364220.1:p.Ala168Val NC_000006.12:70294359:G:A p.(Ala168Val) NC_000006.12:70294359:G:A p.(Ala168Val) NC_000006.12:70294359:G:A Identity +NM_001317195.3:c.1082C>T NP_001304124.1:p.Ala361Val NC_000016.10:68682386:C:T p.(Ala361Val) NC_000016.10:68682386:C:T p.(Ala361Val) NC_000016.10:68682386:C:T Identity +NM_000553.6:c.3351G>C NP_000544.2:p.Lys1117Asn NC_000008.11:31143590:G:C p.(Lys1117Asn) NC_000008.11:31143590:G:C p.(Lys1117Asn) NC_000008.11:31143590:G:C Identity +NM_001144769.5:c.10467C>G NP_001138241.1:p.Phe3489Leu NC_000006.12:56535238:G:C p.(Phe3489Leu) NC_000006.12:56535238:G:C p.(Phe3489Leu) NC_000006.12:56535238:G:C Identity +NM_001127648.2:c.8A>G NP_001121120.1:p.Lys3Arg NC_000005.10:161850817:A:G p.(Lys3Arg) NC_000005.10:161850817:A:G p.(Lys3Arg) NC_000005.10:161850817:A:G Identity +NM_004104.5:c.1895A>T NP_004095.4:p.Gln632Leu NC_000017.11:82089701:T:A p.(Gln632Leu) NC_000017.11:82089701:T:A p.(Gln632Leu) NC_000017.11:82089701:T:A Identity +NM_001365999.1:c.4600G>A NP_001352928.1:p.Val1534Ile NC_000001.11:43430614:G:A p.(Val1534Ile) NC_000001.11:43430614:G:A p.(Val1534Ile) NC_000001.11:43430614:G:A Identity +NM_000287.4:c.1361A>G NP_000278.3:p.Gln454Arg NC_000006.12:42969673:T:C p.(Gln454Arg) NC_000006.12:42969673:T:C p.(Gln454Arg) NC_000006.12:42969673:T:C Identity +NM_006231.4:c.6624G>C NP_006222.2:p.Gln2208His NC_000012.12:132625677:C:G p.(Gln2208His) NC_000012.12:132625677:C:G p.(Gln2208His) NC_000012.12:132625677:C:G Identity +NM_000059.4:c.1807A>C NP_000050.3:p.Lys603Gln NC_000013.11:32333284:A:C p.(Lys603Gln) NC_000013.11:32333284:A:C p.(Lys603Gln) NC_000013.11:32333284:A:C Identity +NM_001354263.2:c.3625C>T NP_001341192.1:p.His1209Tyr NC_000009.12:137834453:C:T p.(His1209Tyr) NC_000009.12:137834453:C:T p.(His1209Tyr) NC_000009.12:137834453:C:T Identity +NM_006361.6:c.698G>A NP_006352.2:p.Arg233Gln NC_000017.11:48726946:C:T p.(Arg233Gln) NC_000017.11:48726946:C:T p.(Arg233Gln) NC_000017.11:48726946:C:T Identity +NM_001846.4:c.1364C>T NP_001837.2:p.Ala455Val NC_000013.11:110457366:C:T p.(Ala455Val) NC_000013.11:110457366:C:T p.(Ala455Val) NC_000013.11:110457366:C:T Identity +NM_001144769.5:c.13621G>T NP_001138241.1:p.Ala4541Ser NC_000006.12:56497971:C:A p.(Ala4541Ser) NC_000006.12:56497971:C:A p.(Ala4541Ser) NC_000006.12:56497971:C:A Identity +NM_198525.3:c.2990C>A NP_940927.2:p.Ala997Asp NC_000015.10:89631615:G:T p.(Ala997Asp) NC_000015.10:89631615:G:T p.(Ala997Asp) NC_000015.10:89631615:G:T Identity +NM_001346897.2:c.1220C>T NP_001333826.1:p.Ser407Phe NC_000007.14:55160194:C:T p.(Ser407Phe) NC_000007.14:55160194:C:T p.(Ser407Phe) NC_000007.14:55160194:C:T Identity +NM_014908.4:c.1138C>T NP_055723.1:p.Arg380Cys NC_000009.12:128946165:G:A p.(Arg380Cys) NC_000009.12:128946165:G:A p.(Arg380Cys) NC_000009.12:128946165:G:A Identity +NM_001145527.2:c.647C>T NP_001138999.1:p.Ala216Val NC_000009.12:137728352:C:T p.(Ala216Val) NC_000009.12:137728352:C:T p.(Ala216Val) NC_000009.12:137728352:C:T Identity +NM_001256267.2:c.649G>A NP_001243196.1:p.Ala217Thr NC_000010.11:68122086:G:A p.(Ala217Thr) NC_000010.11:68122086:G:A p.(Ala217Thr) NC_000010.11:68122086:G:A Identity +NM_002878.4:c.235A>C NP_002869.3:p.Thr79Pro NC_000017.11:35118528:T:G p.(Thr79Pro) NC_000017.11:35118528:T:G p.(Thr79Pro) NC_000017.11:35118528:T:G Identity +NM_001081676.2:c.4241T>A NP_001075145.1:p.Phe1414Tyr NC_000002.12:165095553:A:T p.(Phe1414Tyr) NC_000002.12:165095553:A:T p.(Phe1414Tyr) NC_000002.12:165095553:A:T Identity +NM_001141945.3:c.352C>T NP_001135417.1:p.Arg118Trp NC_000010.11:88943813:G:A p.(Arg118Trp) NC_000010.11:88943813:G:A p.(Arg118Trp) NC_000010.11:88943813:G:A Identity +NM_001105206.3:c.3687del NP_001098676.2:p.Asp1230fs NC_000006.12:112133357:TT:T p.(Asp1230ThrfsTer66) NC_000006.12:112133357:TT:T p.(Asp1230ThrfsTer66) NC_000006.12:112133357:T: Analogous +NM_000057.4:c.2984A>T NP_000048.1:p.Tyr995Phe NC_000015.10:90790808:A:T p.(Tyr995Phe) NC_000015.10:90790808:A:T p.(Tyr995Phe) NC_000015.10:90790808:A:T Identity +NM_000445.5:c.7846G>A NP_000436.2:p.Glu2616Lys NC_000008.11:143922055:C:T p.(Glu2616Lys) NC_000008.11:143922055:C:T p.(Glu2616Lys) NC_000008.11:143922055:C:T Identity +NM_153240.5:c.1028T>C NP_694972.3:p.Ile343Thr NC_000003.12:132713215:A:G p.(Ile343Thr) NC_000003.12:132713215:A:G p.(Ile343Thr) NC_000003.12:132713215:A:G Identity +NM_001126131.2:c.569C>T NP_001119603.1:p.Pro190Leu NC_000015.10:89333185:G:A p.(Pro190Leu) NC_000015.10:89333185:G:A p.(Pro190Leu) NC_000015.10:89333185:G:A Identity +NM_001330347.2:c.1547A>T NP_001317276.1:p.Asp516Val NC_000011.10:94456291:T:A p.(Asp516Val) NC_000011.10:94456291:T:A p.(Asp516Val) NC_000011.10:94456291:T:A Identity +NM_018192.4:c.143A>C NP_060662.2:p.Tyr48Ser NC_000003.12:190120588:T:G p.(Tyr48Ser) NC_000003.12:190120588:T:G p.(Tyr48Ser) NC_000003.12:190120588:T:G Identity +NM_002439.5:c.3343A>G NP_002430.3:p.Asn1115Asp NC_000005.10:80875790:A:G p.(Asn1115Asp) NC_000005.10:80875790:A:G p.(Asn1115Asp) NC_000005.10:80875790:A:G Identity +NM_000057.4:c.976G>A NP_000048.1:p.Asp326Asn NC_000015.10:90754826:G:A p.(Asp326Asn) NC_000015.10:90754826:G:A p.(Asp326Asn) NC_000015.10:90754826:G:A Identity +NM_005045.4:c.4946G>A NP_005036.2:p.Arg1649His NC_000007.14:103565541:C:T p.(Arg1649His) NC_000007.14:103565541:C:T p.(Arg1649His) NC_000007.14:103565541:C:T Identity +NM_001256267.2:c.3654G>C NP_001243196.1:p.Arg1218Ser NC_000010.11:68201988:G:C p.(Arg1218Ser) NC_000010.11:68201988:G:C p.(Arg1218Ser) NC_000010.11:68201988:G:C Identity +NM_001007468.3:c.985A>C NP_001007469.1:p.Ile329Leu NC_000022.11:23833596:A:C p.(Ile329Leu) NC_000022.11:23833596:A:C p.(Ile329Leu) NC_000022.11:23833596:A:C Identity +NM_001127891.3:c.515G>A NP_001121363.1:p.Arg172His NC_000016.10:55485609:G:A p.(Arg172His) NC_000016.10:55485609:G:A p.(Arg172His) NC_000016.10:55485609:G:A Identity +NM_000744.7:c.1159G>A NP_000735.1:p.Glu387Lys NC_000020.11:63350251:C:T p.(Glu387Lys) NC_000020.11:63350251:C:T p.(Glu387Lys) NC_000020.11:63350251:C:T Identity +NM_001294332.2:c.1648A>G NP_001281261.1:p.Lys550Glu NC_000005.10:251465:A:G p.(Lys550Glu) NC_000005.10:251465:A:G p.(Lys550Glu) NC_000005.10:251465:A:G Identity +NM_001130455.2:c.1651G>A NP_001123927.1:p.Val551Met NC_000002.12:71551615:G:A p.(Val551Met) NC_000002.12:71551615:G:A p.(Val551Met) NC_000002.12:71551615:G:A Identity +NM_006623.4:c.160C>T NP_006614.2:p.Arg54Cys NC_000001.11:119721190:C:T p.(Arg54Cys) NC_000001.11:119721190:C:T p.(Arg54Cys) NC_000001.11:119721190:C:T Identity +NM_001144881.2:c.178G>A NP_001138353.1:p.Val60Ile NC_000012.12:42470313:C:T p.(Val60Ile) NC_000012.12:42470313:C:T p.(Val60Ile) NC_000012.12:42470313:C:T Identity +LRG_247t2:c.2847G>T LRG_247p2:p.Gln949His NC_000012.12:868317:G:T ERR:Data provider error: ValueError: Transcript LRG_247t2 not found ERR:Data provider error: ValueError: Transcript LRG_247t2 not found ERR:AlignmentMapper(tx_ac=LRG_247t2, alt_ac=LRG_247t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_247t2, alt_ac=LRG_247t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_247t2 not found +NM_001141945.3:c.223C>A NP_001135417.1:p.His75Asn NC_000010.11:88947292:G:T p.(His75Asn) NC_000010.11:88947292:G:T p.(His75Asn) NC_000010.11:88947292:G:T Identity +NM_001035.3:c.7984T>G NP_001026.2:p.Phe2662Val NC_000001.11:237655838:T:G p.(Phe2662Val) NC_000001.11:237655838:T:G p.(Phe2662Val) NC_000001.11:237655838:T:G Identity +NM_001407885.1:c.2878A>G NP_001394814.1:p.Asn960Asp NC_000017.11:43092442:T:C p.(Asn960Asp) NC_000017.11:43092442:T:C p.(Asn960Asp) NC_000017.11:43092442:T:C Identity +NM_001165963.4:c.4499T>C NP_001159435.1:p.Met1500Thr NC_000002.12:165996094:A:G p.(Met1500Thr) NC_000002.12:165996094:A:G p.(Met1500Thr) NC_000002.12:165996094:A:G Identity +NM_001253852.3:c.1697T>C NP_001240781.1:p.Val566Ala NC_000001.11:113895851:A:G p.(Val566Ala) NC_000001.11:113895851:A:G p.(Val566Ala) NC_000001.11:113895851:A:G Identity +NM_001103.4:c.2468C>T NP_001094.1:p.Ala823Val NC_000001.11:236761114:C:T p.(Ala823Val) NC_000001.11:236761114:C:T p.(Ala823Val) NC_000001.11:236761114:C:T Identity +NM_000742.4:c.948G>C NP_000733.2:p.Glu316Asp NC_000008.11:27463494:C:G p.(Glu316Asp) NC_000008.11:27463494:C:G p.(Glu316Asp) NC_000008.11:27463494:C:G Identity +NM_001127487.2:c.5727C>G NP_001120959.1:p.Phe1909Leu NC_000007.14:128851611:C:G p.(Phe1909Leu) NC_000007.14:128851611:C:G p.(Phe1909Leu) NC_000007.14:128851611:C:G Identity +NM_001134830.2:c.1024G>A NP_001128302.1:p.Asp342Asn NC_000006.12:135457620:C:T p.(Asp342Asn) NC_000006.12:135457620:C:T p.(Asp342Asn) NC_000006.12:135457620:C:T Identity +NM_000047.3:c.113C>T NP_000038.2:p.Pro38Leu NC_000023.11:2958345:G:A p.(Pro38Leu) NC_000023.11:2958345:G:A p.(Pro38Leu) NC_000023.11:2958345:G:A Identity +NM_001379511.1:c.2315C>T NP_001366440.1:p.Ser772Phe NC_000007.14:107203528:G:A p.(Ser772Phe) NC_000007.14:107203528:G:A p.(Ser772Phe) NC_000007.14:107203528:G:A Identity +NM_001318502.2:c.161C>G NP_001305431.1:p.Thr54Ser NC_000009.12:136439258:G:C p.(Thr54Ser) NC_000009.12:136439258:G:C p.(Thr54Ser) NC_000009.12:136439258:G:C Identity +NM_001130455.2:c.5599A>G NP_001123927.1:p.Asn1867Asp NC_000002.12:71669674:A:G p.(Asn1867Asp) NC_000002.12:71669674:A:G p.(Asn1867Asp) NC_000002.12:71669674:A:G Identity +NM_004320.6:c.334G>A NP_004311.1:p.Ala112Thr NC_000016.10:28882459:G:A p.(Ala112Thr) NC_000016.10:28882459:G:A p.(Ala112Thr) NC_000016.10:28882459:G:A Identity +NM_001195573.1:c.713C>G NP_001182502.1:p.Thr238Ser NC_000014.9:95129492:G:C p.(Thr238Ser) NC_000014.9:95129492:G:C p.(Thr238Ser) NC_000014.9:95129492:G:C Identity +NM_004104.5:c.7426G>A NP_004095.4:p.Val2476Ile NC_000017.11:82079252:C:T p.(Val2476Ile) NC_000017.11:82079252:C:T p.(Val2476Ile) NC_000017.11:82079252:C:T Identity +NM_172364.5:c.1576A>T NP_758952.4:p.Ile526Phe NC_000012.12:1879023:T:A p.(Ile526Phe) NC_000012.12:1879023:T:A p.(Ile526Phe) NC_000012.12:1879023:T:A Identity +NM_001243777.2:c.32G>T NP_001230706.1:p.Gly11Val NC_000011.10:95790729:G:T p.(Gly11Val) NC_000011.10:95790729:G:T p.(Gly11Val) NC_000011.10:95790729:G:T Identity +NM_001271.4:c.4573C>G NP_001262.3:p.His1525Asp NC_000015.10:93009303:C:G p.(His1525Asp) NC_000015.10:93009303:C:G p.(His1525Asp) NC_000015.10:93009303:C:G Identity +NM_020956.2:c.25G>A NP_066007.1:p.Glu9Lys NC_000019.10:40407907:C:T p.(Glu9Lys) NC_000019.10:40407907:C:T p.(Glu9Lys) NC_000019.10:40407907:C:T Identity +NM_000387.6:c.262G>A NP_000378.1:p.Val88Met NC_000003.12:48884060:C:T p.(Val88Met) NC_000003.12:48884060:C:T p.(Val88Met) NC_000003.12:48884060:C:T Identity +NM_002500.5:c.584T>C NP_002491.3:p.Phe195Ser NC_000002.12:181678276:A:G p.(Phe195Ser) NC_000002.12:181678276:A:G p.(Phe195Ser) NC_000002.12:181678276:A:G Identity +NM_006231.4:c.1207A>C NP_006222.2:p.Ile403Leu NC_000012.12:132675416:T:G p.(Ile403Leu) NC_000012.12:132675416:T:G p.(Ile403Leu) NC_000012.12:132675416:T:G Identity +NM_001318219.1:c.359G>A NP_001305148.1:p.Arg120Gln NC_000020.11:35479390:G:A p.(Arg120Gln) NC_000020.11:35479390:G:A p.(Arg120Gln) NC_000020.11:35479390:G:A Identity +NM_000277.3:c.200C>G NP_000268.1:p.Ser67Cys NC_000012.12:102894886:G:C p.(Ser67Cys) NC_000012.12:102894886:G:C p.(Ser67Cys) NC_000012.12:102894886:G:C Identity +NM_025099.6:c.595A>C NP_079375.3:p.Thr199Pro NC_000017.11:8238082:T:G p.(Thr199Pro) NC_000017.11:8238082:T:G p.(Thr199Pro) NC_000017.11:8238082:T:G Identity +NM_001182.5:c.904G>A NP_001173.2:p.Ala302Thr NC_000005.10:126561091:C:T p.(Ala302Thr) NC_000005.10:126561091:C:T p.(Ala302Thr) NC_000005.10:126561091:C:T Identity +NM_022168.4:c.14A>C NP_071451.2:p.Tyr5Ser NC_000002.12:162318293:T:G p.(Tyr5Ser) NC_000002.12:162318293:T:G p.(Tyr5Ser) NC_000002.12:162318293:T:G Identity +NM_001363907.1:c.248C>T NP_001350836.1:p.Ala83Val NC_000016.10:85909032:C:T p.(Ala83Val) NC_000016.10:85909032:C:T p.(Ala83Val) NC_000016.10:85909032:C:T Identity +NM_001008537.3:c.4324C>T NP_001008537.1:p.Pro1442Ser NC_000023.11:74740232:G:A p.(Pro1442Ser) NC_000023.11:74740232:G:A p.(Pro1442Ser) NC_000023.11:74740232:G:A Identity +NM_005148.4:c.243G>T NP_005139.1:p.Glu81Asp NC_000017.11:28548682:C:A p.(Glu81Asp) NC_000017.11:28548682:C:A p.(Glu81Asp) NC_000017.11:28548682:C:A Identity +NM_001321309.2:c.2759C>T NP_001308238.1:p.Thr920Ile NC_000003.12:123700180:G:A p.(Thr920Ile) NC_000003.12:123700180:G:A p.(Thr920Ile) NC_000003.12:123700180:G:A Identity +NM_001257970.1:c.884G>A NP_001244899.1:p.Arg295Gln NC_000017.11:80189792:G:A p.(Arg295Gln) NC_000017.11:80189792:G:A p.(Arg295Gln) NC_000017.11:80189792:G:A Identity +NM_001184985.2:c.6979A>G NP_001171914.1:p.Ile2327Val NC_000012.12:896685:A:G p.(Ile2327Val) NC_000012.12:896685:A:G p.(Ile2327Val) NC_000012.12:896685:A:G Identity +NM_001005407.2:c.1765G>A NP_001005407.1:p.Ala589Thr NC_000016.10:1202214:G:A p.(Ala589Thr) NC_000016.10:1202214:G:A p.(Ala589Thr) NC_000016.10:1202214:G:A Identity +NM_001363711.2:c.3637C>T NP_001350640.1:p.Arg1213Cys NC_000015.10:45097669:G:A p.(Arg1213Cys) NC_000015.10:45097669:G:A p.(Arg1213Cys) NC_000015.10:45097669:G:A Identity +NM_000264.5:c.337G>T NP_000255.2:p.Ala113Ser NC_000009.12:95506463:C:A p.(Ala113Ser) NC_000009.12:95506463:C:A p.(Ala113Ser) NC_000009.12:95506463:C:A Identity +NM_001099922.3:c.2328G>C NP_001093392.1:p.Gln776His NC_000023.11:111728264:G:C p.(Gln776His) NC_000023.11:111728264:G:C p.(Gln776His) NC_000023.11:111728264:G:C Identity +NM_000383.4:c.716C>A NP_000374.1:p.Ser239Tyr NC_000021.9:44289719:C:A p.(Ser239Tyr) NC_000021.9:44289719:C:A p.(Ser239Tyr) NC_000021.9:44289719:C:A Identity +NM_001177701.3:c.248A>G NP_001171172.1:p.Asn83Ser NC_000022.11:36764022:T:C p.(Asn83Ser) NC_000022.11:36764022:T:C p.(Asn83Ser) NC_000022.11:36764022:T:C Identity +NM_000465.4:c.1903T>A NP_000456.2:p.Trp635Arg NC_000002.12:214745066:A:T p.(Trp635Arg) NC_000002.12:214745066:A:T p.(Trp635Arg) NC_000002.12:214745066:A:T Identity +NM_000059.4:c.3721T>C NP_000050.3:p.Phe1241Leu NC_000013.11:32338075:T:C p.(Phe1241Leu) NC_000013.11:32338075:T:C p.(Phe1241Leu) NC_000013.11:32338075:T:C Identity +NM_014714.4:c.2516C>T NP_055529.2:p.Ala839Val NC_000016.10:1526679:G:A p.(Ala839Val) NC_000016.10:1526679:G:A p.(Ala839Val) NC_000016.10:1526679:G:A Identity +NM_001195263.2:c.1664A>G NP_001182192.1:p.Glu555Gly NC_000010.11:101015720:T:C p.(Glu555Gly) NC_000010.11:101015720:T:C p.(Glu555Gly) NC_000010.11:101015720:T:C Identity +NM_001165963.4:c.866A>T NP_001159435.1:p.Glu289Val NC_000002.12:166051816:T:A p.(Glu289Val) NC_000002.12:166051816:T:A p.(Glu289Val) NC_000002.12:166051816:T:A Identity +NM_001008537.3:c.3221C>T NP_001008537.1:p.Pro1074Leu NC_000023.11:74741335:G:A p.(Pro1074Leu) NC_000023.11:74741335:G:A p.(Pro1074Leu) NC_000023.11:74741335:G:A Identity +NM_001042473.4:c.238G>A NP_001035938.1:p.Ala80Thr NC_000010.11:27231779:C:T p.(Ala80Thr) NC_000010.11:27231779:C:T p.(Ala80Thr) NC_000010.11:27231779:C:T Identity +NM_001363813.1:c.529G>A NP_001350742.1:p.Glu177Lys NC_000017.11:65558091:C:T p.(Glu177Lys) NC_000017.11:65558091:C:T p.(Glu177Lys) NC_000017.11:65558091:C:T Identity +NM_001234.5:c.345G>C NP_001225.1:p.Gln115His NC_000003.12:8745755:G:C p.(Gln115His) NC_000003.12:8745755:G:C p.(Gln115His) NC_000003.12:8745755:G:C Identity +NM_001142800.2:c.769A>G NP_001136272.1:p.Ile257Val NC_000006.12:65490686:T:C p.(Ile257Val) NC_000006.12:65490686:T:C p.(Ile257Val) NC_000006.12:65490686:T:C Identity +NM_001165963.4:c.447C>A NP_001159435.1:p.Asn149Lys NC_000002.12:166056436:G:T p.(Asn149Lys) NC_000002.12:166056436:G:T p.(Asn149Lys) NC_000002.12:166056436:G:T Identity +NM_017890.5:c.8236G>A NP_060360.3:p.Val2746Ile NC_000008.11:99817602:G:A p.(Val2746Ile) NC_000008.11:99817602:G:A p.(Val2746Ile) NC_000008.11:99817602:G:A Identity +NM_001385678.1:c.1598G>A NP_001372607.1:p.Arg533Gln NC_000019.10:4816737:C:T p.(Arg533Gln) NC_000019.10:4816737:C:T p.(Arg533Gln) NC_000019.10:4816737:C:T Identity +NM_000170.3:c.1751C>T NP_000161.2:p.Pro584Leu NC_000009.12:6587239:G:A p.(Pro584Leu) NC_000009.12:6587239:G:A p.(Pro584Leu) NC_000009.12:6587239:G:A Identity +NM_001244008.2:c.3601C>T NP_001230937.1:p.Arg1201Cys NC_000002.12:240742967:G:A p.(Arg1201Cys) NC_000002.12:240742967:G:A p.(Arg1201Cys) NC_000002.12:240742967:G:A Identity +NM_001171653.2:c.2845A>G NP_001165124.1:p.Met949Val NC_000002.12:144396561:T:C p.(Met949Val) NC_000002.12:144396561:T:C p.(Met949Val) NC_000002.12:144396561:T:C Identity +NM_001193465.2:c.937G>C NP_001180394.1:p.Val313Leu NC_000017.11:46171206:C:G p.(Val313Leu) NC_000017.11:46171206:C:G p.(Val313Leu) NC_000017.11:46171206:C:G Identity +NM_001003786.3:c.23C>T NP_001003786.1:p.Ala8Val NC_000017.11:63714097:G:A p.(Ala8Val) NC_000017.11:63714097:G:A p.(Ala8Val) NC_000017.11:63714097:G:A Identity +NM_000091.5:c.4663G>A NP_000082.2:p.Ala1555Thr NC_000002.12:227309225:G:A p.(Ala1555Thr) NC_000002.12:227309225:G:A p.(Ala1555Thr) NC_000002.12:227309225:G:A Identity +NM_000744.7:c.522C>A NP_000735.1:p.Asn174Lys NC_000020.11:63350888:G:T p.(Asn174Lys) NC_000020.11:63350888:G:T p.(Asn174Lys) NC_000020.11:63350888:G:T Identity +NM_000388.4:c.1669G>A NP_000379.3:p.Gly557Arg NC_000003.12:122282172:G:A p.(Gly557Arg) NC_000003.12:122282172:G:A p.(Gly557Arg) NC_000003.12:122282172:G:A Identity +NM_001349370.3:c.3719A>T NP_001336299.1:p.His1240Leu NC_000003.12:47120784:T:A p.(His1240Leu) NC_000003.12:47120784:T:A p.(His1240Leu) NC_000003.12:47120784:T:A Identity +NM_001379200.1:c.480T>A NP_001366129.1:p.Asp160Glu NC_000022.11:19763282:T:A p.(Asp160Glu) NC_000022.11:19763282:T:A p.(Asp160Glu) NC_000022.11:19763282:T:A Identity +NM_000548.5:c.3914C>A NP_000539.2:p.Pro1305Gln NC_000016.10:2083724:C:A p.(Pro1305Gln) NC_000016.10:2083724:C:A p.(Pro1305Gln) NC_000016.10:2083724:C:A Identity +NM_001164507.2:c.10289G>A NP_001157979.2:p.Ser3430Asn NC_000002.12:151627059:C:T p.(Ser3430Asn) NC_000002.12:151627059:C:T p.(Ser3430Asn) NC_000002.12:151627059:C:T Identity +NM_001033855.3:c.614A>T NP_001029027.1:p.Asn205Ile NC_000010.11:14934443:T:A p.(Asn205Ile) NC_000010.11:14934443:T:A p.(Asn205Ile) NC_000010.11:14934443:T:A Identity +NM_001164507.2:c.11249C>A NP_001157979.2:p.Pro3750Gln NC_000002.12:151616041:G:T p.(Pro3750Gln) NC_000002.12:151616041:G:T p.(Pro3750Gln) NC_000002.12:151616041:G:T Identity +NM_001379200.1:c.1135A>G NP_001366129.1:p.Ser379Gly NC_000022.11:19766486:A:G p.(Ser379Gly) NC_000022.11:19766486:A:G p.(Ser379Gly) NC_000022.11:19766486:A:G Identity +NM_001290309.3:c.2355G>C NP_001277238.1:p.Lys785Asn NC_000005.10:138934031:G:C p.(Lys785Asn) NC_000005.10:138934031:G:C p.(Lys785Asn) NC_000005.10:138934031:G:C Identity +NM_000178.4:c.22C>T NP_000169.1:p.Leu8Phe NC_000020.11:34951830:G:A p.(Leu8Phe) NC_000020.11:34951830:G:A p.(Leu8Phe) NC_000020.11:34951830:G:A Identity +NM_002471.4:c.5035C>T NP_002462.2:p.Arg1679Cys NC_000014.9:23386055:G:A p.(Arg1679Cys) NC_000014.9:23386055:G:A p.(Arg1679Cys) NC_000014.9:23386055:G:A Identity +NM_000244.4:c.302T>C NP_000235.3:p.Val101Ala NC_000011.10:64809807:A:G p.(Val101Ala) NC_000011.10:64809807:A:G p.(Val101Ala) NC_000011.10:64809807:A:G Identity +NM_006946.4:c.4448G>A NP_008877.2:p.Arg1483His NC_000011.10:66694193:C:T p.(Arg1483His) NC_000011.10:66694193:C:T p.(Arg1483His) NC_000011.10:66694193:C:T Identity +NM_001244926.2:c.1093A>G NP_001231855.1:p.Met365Val NC_000009.12:113290535:A:G p.(Met365Val) NC_000009.12:113290535:A:G p.(Met365Val) NC_000009.12:113290535:A:G Identity +NM_017946.4:c.560T>G NP_060416.1:p.Ile187Ser NC_000007.14:30014810:A:C p.(Ile187Ser) NC_000007.14:30014810:A:C p.(Ile187Ser) NC_000007.14:30014810:A:C Identity +NM_000188.3:c.214C>T NP_000179.2:p.Pro72Ser NC_000010.11:69343976:C:T p.(Pro72Ser) NC_000010.11:69343976:C:T p.(Pro72Ser) NC_000010.11:69343976:C:T Identity +NM_001145661.2:c.1040C>T NP_001139133.1:p.Thr347Ile NC_000003.12:128481921:G:A p.(Thr347Ile) NC_000003.12:128481921:G:A p.(Thr347Ile) NC_000003.12:128481921:G:A Identity +NM_020949.3:c.2292T>A NP_066000.2:p.Asp764Glu NC_000003.12:170467078:A:T p.(Asp764Glu) NC_000003.12:170467078:A:T p.(Asp764Glu) NC_000003.12:170467078:A:T Identity +NM_000401.3:c.1250A>G NP_000392.3:p.Gln417Arg NC_000011.10:44130115:A:G p.(Gln417Arg) NC_000011.10:44130115:A:G p.(Gln417Arg) NC_000011.10:44130115:A:G Identity +NM_000245.4:c.527T>C NP_000236.2:p.Val176Ala NC_000007.14:116699610:T:C p.(Val176Ala) NC_000007.14:116699610:T:C p.(Val176Ala) NC_000007.14:116699610:T:C Identity +NM_000038.6:c.3754T>C NP_000029.2:p.Ser1252Pro NC_000005.10:112839347:T:C p.(Ser1252Pro) NC_000005.10:112839347:T:C p.(Ser1252Pro) NC_000005.10:112839347:T:C Identity +NM_000445.5:c.4901G>A NP_000436.2:p.Arg1634Gln NC_000008.11:143925108:C:T p.(Arg1634Gln) NC_000008.11:143925108:C:T p.(Arg1634Gln) NC_000008.11:143925108:C:T Identity +NM_001136536.5:c.1411G>T NP_001130008.2:p.Val471Leu NC_000004.12:36316426:G:T p.(Val471Leu) NC_000004.12:36316426:G:T p.(Val471Leu) NC_000004.12:36316426:G:T Identity +NM_020964.3:c.712C>T NP_066015.2:p.Arg238Cys NC_000018.10:45954689:G:A p.(Arg238Cys) NC_000018.10:45954689:G:A p.(Arg238Cys) NC_000018.10:45954689:G:A Identity +NM_000253.4:c.2006A>G NP_000244.2:p.Gln669Arg NC_000004.12:99612928:A:G p.(Gln669Arg) NC_000004.12:99612928:A:G p.(Gln669Arg) NC_000004.12:99612928:A:G Identity +NM_001305942.2:c.85G>C NP_001292871.2:p.Ala29Pro NC_000009.12:128323029:G:C p.(Ala29Pro) NC_000009.12:128323029:G:C p.(Ala29Pro) NC_000009.12:128323029:G:C Identity +NM_001081676.2:c.4828G>A NP_001075145.1:p.Gly1610Ser NC_000002.12:165091177:C:T p.(Gly1610Ser) NC_000002.12:165091177:C:T p.(Gly1610Ser) NC_000002.12:165091177:C:T Identity +NM_002098.6:c.110T>A NP_002089.4:p.Leu37His NC_000006.12:42194710:A:T p.(Leu37His) NC_000006.12:42194710:A:T p.(Leu37His) NC_000006.12:42194710:A:T Identity +NM_001036.6:c.1805G>A NP_001027.3:p.Cys602Tyr NC_000015.10:33601434:G:A p.(Cys602Tyr) NC_000015.10:33601434:G:A p.(Cys602Tyr) NC_000015.10:33601434:G:A Identity +NM_020461.4:c.1223C>T NP_065194.3:p.Thr408Met NC_000022.11:50229470:G:A p.(Thr408Met) NC_000022.11:50229470:G:A p.(Thr408Met) NC_000022.11:50229470:G:A Identity +NM_001374594.1:c.424G>A NP_001361523.1:p.Glu142Lys NC_000017.11:78125731:C:T p.(Glu142Lys) NC_000017.11:78125731:C:T p.(Glu142Lys) NC_000017.11:78125731:C:T Identity +NM_032790.4:c.763G>A NP_116179.2:p.Val255Ile NC_000012.12:121641499:G:A p.(Val255Ile) NW_018654719.1:47270:G:A p.(Val255Ile) NC_000012.12:47270:G:A Identity +NM_001354723.2:c.370G>T NP_001341652.1:p.Val124Leu NC_000003.12:10142791:G:T p.(Val124Leu) NC_000003.12:10142791:G:T p.(Val124Leu) NC_000003.12:10142791:G:T Identity +NM_001079878.2:c.199G>A NP_001073347.1:p.Gly67Ser NC_000002.12:98377783:G:A p.(Gly67Ser) NC_000002.12:98377783:G:A p.(Gly67Ser) NC_000002.12:98377783:G:A Identity +NM_001142929.2:c.1055G>A NP_001136401.2:p.Arg352Gln NC_000010.11:49649533:G:A p.(Arg352Gln) NC_000010.11:49649533:G:A p.(Arg352Gln) NC_000010.11:49649533:G:A Identity +NM_001160227.2:c.2857G>A NP_001153699.1:p.Glu953Lys NC_000015.10:44615543:C:T p.(Glu953Lys) NC_000015.10:44615543:C:T p.(Glu953Lys) NC_000015.10:44615543:C:T Identity +NM_001363813.1:c.509T>C NP_001350742.1:p.Met170Thr NC_000017.11:65558111:A:G p.(Met170Thr) NC_000017.11:65558111:A:G p.(Met170Thr) NC_000017.11:65558111:A:G Identity +NM_001099922.3:c.1010T>A NP_001093392.1:p.Leu337Gln NC_000023.11:111717849:T:A p.(Leu337Gln) NC_000023.11:111717849:T:A p.(Leu337Gln) NC_000023.11:111717849:T:A Identity +NM_002755.4:c.772G>A NP_002746.1:p.Val258Ile NC_000015.10:66485067:G:A p.(Val258Ile) NC_000015.10:66485067:G:A p.(Val258Ile) NC_000015.10:66485067:G:A Identity +NM_004946.3:c.1205A>G NP_004937.1:p.Asp402Gly NC_000005.10:169700085:A:G p.(Asp402Gly) NC_000005.10:169700085:A:G p.(Asp402Gly) NC_000005.10:169700085:A:G Identity +NM_001317195.3:c.2245G>T NP_001304124.1:p.Ala749Ser NC_000016.10:68695887:G:T p.(Ala749Ser) NC_000016.10:68695887:G:T p.(Ala749Ser) NC_000016.10:68695887:G:T Identity +NM_004370.6:c.6116A>G NP_004361.3:p.Asn2039Ser NC_000006.12:75130184:T:C p.(Asn2039Ser) NC_000006.12:75130184:T:C p.(Asn2039Ser) NC_000006.12:75130184:T:C Identity +NM_001943.5:c.1649A>G NP_001934.2:p.Glu550Gly NC_000018.10:31536426:A:G p.(Glu550Gly) NC_000018.10:31536426:A:G p.(Glu550Gly) NC_000018.10:31536426:A:G Identity +NM_000154.2:c.163A>G NP_000145.1:p.Met55Val NC_000017.11:75764973:T:C p.(Met55Val) NC_000017.11:75764973:T:C p.(Met55Val) NC_000017.11:75764973:T:C Identity +NM_001166111.2:c.3176C>T NP_001159583.1:p.Ser1059Phe NC_000019.10:7556504:C:T p.(Ser1059Phe) NC_000019.10:7556504:C:T p.(Ser1059Phe) NC_000019.10:7556504:C:T Identity +NM_001256849.1:c.1067C>G NP_001243778.1:p.Thr356Ser NC_000019.10:50403148:C:G p.(Thr356Ser) NC_000019.10:50403148:C:G p.(Thr356Ser) NC_000019.10:50403148:C:G Identity +NM_000222.3:c.2093C>A NP_000213.1:p.Ala698Glu NC_000004.12:54729436:C:A p.(Ala698Glu) NC_000004.12:54729436:C:A p.(Ala698Glu) NC_000004.12:54729436:C:A Identity +NM_001166292.2:c.2356C>T NP_001159764.1:p.Arg786Cys NC_000001.11:44827416:G:A p.(Arg786Cys) NC_000001.11:44827416:G:A p.(Arg786Cys) NC_000001.11:44827416:G:A Identity +NM_001199777.2:c.312G>C NP_001186706.1:p.Trp104Cys NC_000012.12:89491949:C:G p.(Trp104Cys) NC_000012.12:89491949:C:G p.(Trp104Cys) NC_000012.12:89491949:C:G Identity +NM_001318194.2:c.169C>T NP_001305123.1:p.Leu57Phe NC_000016.10:2044655:G:A p.(Leu57Phe) NC_000016.10:2044655:G:A p.(Leu57Phe) NC_000016.10:2044655:G:A Identity +NM_174934.4:c.198C>G NP_777594.1:p.Phe66Leu NC_000011.10:118145092:G:C p.(Phe66Leu) NC_000011.10:118145092:G:C p.(Phe66Leu) NC_000011.10:118145092:G:C Identity +NM_024306.5:c.1036T>G NP_077282.3:p.Ser346Ala NC_000016.10:74716349:A:C p.(Ser346Ala) NC_000016.10:74716349:A:C p.(Ser346Ala) NC_000016.10:74716349:A:C Identity +NM_001317184.2:c.91G>A NP_001304113.1:p.Gly31Ser NC_000016.10:68738338:G:A p.(Gly31Ser) NC_000016.10:68738338:G:A p.(Gly31Ser) NC_000016.10:68738338:G:A Identity +NM_001285829.2:c.59T>C NP_001272758.1:p.Leu20Pro NC_000019.10:33301998:A:G p.(Leu20Pro) NC_000019.10:33301998:A:G p.(Leu20Pro) NC_000019.10:33301998:A:G Identity +NM_006267.5:c.5224A>G NP_006258.3:p.Thr1742Ala NC_000002.12:108765762:A:G p.(Thr1742Ala) NC_000002.12:108765762:A:G p.(Thr1742Ala) NC_000002.12:108765762:A:G Identity +NM_001258040.3:c.95AGG[2] NP_001244969.1:p.Glu34del NC_000005.10:140690931:CCTCCTCCTC:CCTCCTC p.(Glu34del) NC_000005.10:140690939:T:CCTCCT ERR:Parse ERR:Parse Identity +NM_001243776.2:c.715A>G NP_001230705.1:p.Lys239Glu NC_000011.10:95821912:A:G p.(Lys239Glu) NC_000011.10:95821912:A:G p.(Lys239Glu) NC_000011.10:95821912:A:G Identity +NM_001256850.1:c.3664C>T NP_001243779.1:p.Gln1222Ter NC_000002.12:178780064:G:A p.(Gln1222Ter) NC_000002.12:178780064:G:A p.(Gln1222Ter) NC_000002.12:178780064:G:A Identity +NM_016373.4:c.94G>A NP_057457.1:p.Val32Ile NC_000016.10:78099871:G:A p.(Val32Ile) NC_000016.10:78099871:G:A p.(Val32Ile) NC_000016.10:78099871:G:A Identity +NM_001105206.3:c.490C>T NP_001098676.2:p.Pro164Ser NC_000006.12:112201620:G:A p.(Pro164Ser) NC_000006.12:112201620:G:A p.(Pro164Ser) NC_000006.12:112201620:G:A Identity +NM_001146289.2:c.1613A>G NP_001139761.1:p.Tyr538Cys NC_000001.11:42750292:T:C p.(Tyr538Cys) NC_000001.11:42750292:T:C p.(Tyr538Cys) NC_000001.11:42750292:T:C Identity +NM_000719.7:c.1333G>C NP_000710.5:p.Glu445Gln NC_000012.12:2512926:G:C p.(Glu445Gln) NC_000012.12:2512926:G:C p.(Glu445Gln) NC_000012.12:2512926:G:C Identity +NM_001136540.2:c.893A>G NP_001130012.1:p.His298Arg NC_000022.11:36265728:A:G p.(His298Arg) NC_000022.11:36265728:A:G p.(His298Arg) NC_000022.11:36265728:A:G Identity +NM_001201459.2:c.868C>T NP_001188388.1:p.Pro290Ser NC_000002.12:27378116:G:A p.(Pro290Ser) NC_000002.12:27378116:G:A p.(Pro290Ser) NC_000002.12:27378116:G:A Identity +NM_015180.6:c.9631G>T NP_055995.4:p.Ala3211Ser NC_000014.9:64053543:G:T p.(Ala3211Ser) NC_000014.9:64053543:G:T p.(Ala3211Ser) NC_000014.9:64053543:G:T Identity +NM_005585.5:c.715G>A NP_005576.3:p.Val239Met NC_000015.10:66703972:G:A p.(Val239Met) NC_000015.10:66703972:G:A p.(Val239Met) NC_000015.10:66703972:G:A Identity +NM_017780.4:c.5401C>T NP_060250.2:p.His1801Tyr NC_000008.11:60849150:C:T p.(His1801Tyr) NC_000008.11:60849150:C:T p.(His1801Tyr) NC_000008.11:60849150:C:T Identity +NM_001256849.1:c.2303_2305del NP_001243778.1:p.Val768del NC_000019.10:50413791:GGTGG:GG p.(Val768del) NC_000019.10:50413791:GGTGG:GG p.(Val768del) NC_000019.10:50413793:TGG: Identity +NM_001135659.3:c.3510A>T NP_001129131.1:p.Lys1170Asn NC_000002.12:50236944:T:A p.(Lys1170Asn) NC_000002.12:50236944:T:A p.(Lys1170Asn) NC_000002.12:50236944:T:A Identity +NM_000179.3:c.3950A>G NP_000170.1:p.His1317Arg NC_000002.12:47806599:A:G p.(His1317Arg) NC_000002.12:47806599:A:G p.(His1317Arg) NC_000002.12:47806599:A:G Identity +NM_001365999.1:c.8866G>A NP_001352928.1:p.Gly2956Ser NC_000001.11:43445933:G:A p.(Gly2956Ser) NC_000001.11:43445933:G:A p.(Gly2956Ser) NC_000001.11:43445933:G:A Identity +NM_020376.4:c.1201C>T NP_065109.1:p.Arg401Cys NC_000011.10:824547:C:T p.(Arg401Cys) NC_000011.10:824547:C:T p.(Arg401Cys) NC_000011.10:824547:C:T Identity +NM_001407571.1:c.4094C>T NP_001394500.1:p.Ser1365Phe NC_000017.11:43082453:G:A p.(Ser1365Phe) NC_000017.11:43082453:G:A p.(Ser1365Phe) NC_000017.11:43082453:G:A Identity +NM_145290.4:c.3791A>G NP_660333.2:p.Asp1264Gly NC_000004.12:22387879:T:C p.(Asp1264Gly) NC_000004.12:22387879:T:C p.(Asp1264Gly) NC_000004.12:22387879:T:C Identity +NM_001256850.1:c.29374A>C NP_001243779.1:p.Thr9792Pro NC_000002.12:178702561:T:G p.(Thr9792Pro) NC_000002.12:178702561:T:G p.(Thr9792Pro) NC_000002.12:178702561:T:G Identity +NM_000843.4:c.1456G>A NP_000834.2:p.Gly486Arg NC_000005.10:178986881:C:T p.(Gly486Arg) NC_000005.10:178986881:C:T p.(Gly486Arg) NC_000005.10:178986881:C:T Identity +NM_001289395.2:c.1441A>G NP_001276324.1:p.Ser481Gly NC_000006.12:35498355:T:C p.(Ser481Gly) NC_000006.12:35498355:T:C p.(Ser481Gly) NC_000006.12:35498355:T:C Identity +NM_001320415.2:c.224C>T NP_001307344.1:p.Ser75Leu NC_000014.9:65076545:G:A p.(Ser75Leu) NC_000014.9:65076545:G:A p.(Ser75Leu) NC_000014.9:65076545:G:A Identity +NM_025099.6:c.2510G>A NP_079375.3:p.Cys837Tyr NC_000017.11:8231434:C:T p.(Cys837Tyr) NC_000017.11:8231434:C:T p.(Cys837Tyr) NC_000017.11:8231434:C:T Identity +NM_001282368.2:c.967G>C NP_001269297.1:p.Val323Leu NC_000006.12:76003884:C:G p.(Val323Leu) NC_000006.12:76003884:C:G p.(Val323Leu) NC_000006.12:76003884:C:G Identity +NM_000059.4:c.1832C>T NP_000050.3:p.Ser611Leu NC_000013.11:32333309:C:T p.(Ser611Leu) NC_000013.11:32333309:C:T p.(Ser611Leu) NC_000013.11:32333309:C:T Identity +NM_017802.4:c.464T>G NP_060272.3:p.Leu155Arg NC_000007.14:727183:T:G p.(Leu155Arg) NC_000007.14:727183:T:G p.(Leu155Arg) NC_000007.14:727183:T:G Identity +NM_000553.6:c.2033A>G NP_000544.2:p.His678Arg NC_000008.11:31100899:A:G p.(His678Arg) NC_000008.11:31100899:A:G p.(His678Arg) NC_000008.11:31100899:A:G Identity +NM_000026.4:c.1349C>T NP_000017.1:p.Thr450Ile NC_000022.11:40365036:C:T p.(Thr450Ile) NC_000022.11:40365036:C:T p.(Thr450Ile) NC_000022.11:40365036:C:T Identity +NM_001256944.2:c.1112C>T NP_001243873.1:p.Pro371Leu NC_000023.11:10212470:C:T p.(Pro371Leu) NC_000023.11:10212470:C:T p.(Pro371Leu) NC_000023.11:10212470:C:T Identity +NM_001130955.2:c.2894A>T NP_001124427.2:p.Asn965Ile NC_000019.10:7468963:A:T p.(Asn965Ile) NC_000019.10:7468963:A:T p.(Asn965Ile) NC_000019.10:7468963:A:T Identity +NM_001177984.3:c.60G>C NP_001171455.1:p.Glu20Asp NC_000012.12:51662876:G:C p.(Glu20Asp) NC_000012.12:51662876:G:C p.(Glu20Asp) NC_000012.12:51662876:G:C Identity +NM_003362.4:c.497C>T NP_003353.1:p.Pro166Leu NC_000012.12:109101989:C:T p.(Pro166Leu) NC_000012.12:109101989:C:T p.(Pro166Leu) NC_000012.12:109101989:C:T Identity +NM_017841.4:c.240G>C NP_060311.1:p.Leu80Phe NC_000011.10:61437827:G:C p.(Leu80Phe) NC_000011.10:61437827:G:C p.(Leu80Phe) NC_000011.10:61437827:G:C Identity +NM_001191060.2:c.887C>T NP_001177989.1:p.Ala296Val NC_000011.10:791999:G:A p.(Ala296Val) NC_000011.10:791999:G:A p.(Ala296Val) NC_000011.10:791999:G:A Identity +NM_025114.4:c.6570G>A NP_079390.3:p.Met2190Ile NC_000012.12:88059972:C:T p.(Met2190Ile) NC_000012.12:88059972:C:T p.(Met2190Ile) NC_000012.12:88059972:C:T Identity +NM_004656.4:c.440C>T NP_004647.1:p.Pro147Leu NC_000003.12:52407313:G:A p.(Pro147Leu) NC_000003.12:52407313:G:A p.(Pro147Leu) NC_000003.12:52407313:G:A Identity +NM_012186.3:c.663C>G NP_036318.1:p.Ser221Arg NC_000001.11:47416977:C:G p.(Ser221Arg) NC_000001.11:47416977:C:G p.(Ser221Arg) NC_000001.11:47416977:C:G Identity +NM_001318219.1:c.644A>G NP_001305148.1:p.Gln215Arg NC_000020.11:35480098:A:G p.(Gln215Arg) NC_000020.11:35480098:A:G p.(Gln215Arg) NC_000020.11:35480098:A:G Identity +NM_001164507.2:c.3209C>G NP_001157979.2:p.Ala1070Gly NC_000002.12:151679766:G:C p.(Ala1070Gly) NC_000002.12:151679766:G:C p.(Ala1070Gly) NC_000002.12:151679766:G:C Identity +NM_001349370.3:c.5698A>G NP_001336299.1:p.Ile1900Val NC_000003.12:47083949:T:C p.(Ile1900Val) NC_000003.12:47083949:T:C p.(Ile1900Val) NC_000003.12:47083949:T:C Identity +NM_002439.5:c.310G>A NP_002430.3:p.Val104Ile NC_000005.10:80656482:G:A p.(Val104Ile) NC_000005.10:80656482:G:A p.(Val104Ile) NC_000005.10:80656482:G:A Identity +NM_002471.4:c.2600A>G NP_002462.2:p.Lys867Arg NC_000014.9:23394152:T:C p.(Lys867Arg) NC_000014.9:23394152:T:C p.(Lys867Arg) NC_000014.9:23394152:T:C Identity +NM_000440.3:c.1915C>G NP_000431.2:p.Leu639Val NC_000005.10:149884790:G:C p.(Leu639Val) NC_000005.10:149884790:G:C p.(Leu639Val) NC_000005.10:149884790:G:C Identity +NM_001163940.2:c.535G>A NP_001157412.1:p.Gly179Arg NC_000014.9:50923991:C:T p.(Gly179Arg) NC_000014.9:50923991:C:T p.(Gly179Arg) NC_000014.9:50923991:C:T Identity +NM_001211.6:c.3133G>C NP_001202.5:p.Gly1045Arg NC_000015.10:40220738:G:C p.(Gly1045Arg) NC_000015.10:40220738:G:C p.(Gly1045Arg) NC_000015.10:40220738:G:C Identity +NM_199037.5:c.554C>A NP_950238.1:p.Ala185Asp NC_000019.10:35033844:C:A p.(Ala185Asp) NC_000019.10:35033844:C:A p.(Ala185Asp) NC_000019.10:35033844:C:A Identity +NM_000383.4:c.539_540delinsAT NP_000374.1:p.Gly180Asp NC_000021.9:44288344:GG:AT p.(Gly180Asp) NC_000021.9:44288344:GG:AT p.(Gly180Asp) NC_000021.9:44288344:GG:AT Identity +NM_001256850.1:c.99731G>A NP_001243779.1:p.Arg33244Gln NC_000002.12:178531960:C:T p.(Arg33244Gln) NC_000002.12:178531960:C:T p.(Arg33244Gln) NC_000002.12:178531960:C:T Identity +NM_001195573.1:c.4175G>C NP_001182502.1:p.Ser1392Thr NC_000014.9:95099810:C:G p.(Ser1392Thr) NC_000014.9:95099810:C:G p.(Ser1392Thr) NC_000014.9:95099810:C:G Identity +NM_000548.5:c.2334C>G NP_000539.2:p.Asn778Lys NC_000016.10:2072961:C:G p.(Asn778Lys) NC_000016.10:2072961:C:G p.(Asn778Lys) NC_000016.10:2072961:C:G Identity +NM_002335.4:c.1079C>T NP_002326.2:p.Pro360Leu NC_000011.10:68386378:C:T p.(Pro360Leu) NC_000011.10:68386378:C:T p.(Pro360Leu) NC_000011.10:68386378:C:T Identity +NM_001379286.1:c.143G>A NP_001366215.1:p.Arg48His NC_000016.10:49730928:C:T p.(Arg48His) NC_000016.10:49730928:C:T p.(Arg48His) NC_000016.10:49730928:C:T Identity +NM_000135.4:c.1297G>A NP_000126.2:p.Val433Ile NC_000016.10:89791464:C:T p.(Val433Ile) NC_000016.10:89791464:C:T p.(Val433Ile) NC_000016.10:89791464:C:T Identity +NM_001365536.1:c.41A>C NP_001352465.1:p.His14Pro NC_000002.12:166311715:T:G p.(His14Pro) NC_000002.12:166311715:T:G p.(His14Pro) NC_000002.12:166311715:T:G Identity +NM_015192.4:c.568G>A NP_056007.1:p.Glu190Lys NC_000020.11:8649422:G:A p.(Glu190Lys) NC_000020.11:8649422:G:A p.(Glu190Lys) NC_000020.11:8649422:G:A Identity +NM_001193640.2:c.592G>A NP_001180569.1:p.Glu198Lys NC_000001.11:197328942:G:A p.(Glu198Lys) NC_000001.11:197328942:G:A p.(Glu198Lys) NC_000001.11:197328942:G:A Identity +NM_001256267.2:c.925C>G NP_001243196.1:p.Leu309Val NC_000010.11:68142961:C:G p.(Leu309Val) NC_000010.11:68142961:C:G p.(Leu309Val) NC_000010.11:68142961:C:G Identity +NM_001365536.1:c.3575G>A NP_001352465.1:p.Ser1192Asn NC_000002.12:166242553:C:T p.(Ser1192Asn) NC_000002.12:166242553:C:T p.(Ser1192Asn) NC_000002.12:166242553:C:T Identity +NM_001025107.3:c.430A>G NP_001020278.1:p.Asn144Asp NC_000001.11:154601326:T:C p.(Asn144Asp) NC_000001.11:154601326:T:C p.(Asn144Asp) NC_000001.11:154601326:T:C Identity +NM_000540.3:c.12729G>C NP_000531.2:p.Glu4243Asp NC_000019.10:38565062:G:C p.(Glu4243Asp) NC_000019.10:38565062:G:C p.(Glu4243Asp) NC_000019.10:38565062:G:C Identity +NM_001330504.2:c.632A>G NP_001317433.1:p.Lys211Arg NC_000016.10:5080948:A:G p.(Lys211Arg) NC_000016.10:5080948:A:G p.(Lys211Arg) NC_000016.10:5080948:A:G Identity +NM_014384.3:c.290G>A NP_055199.1:p.Gly97Glu NC_000011.10:134257166:G:A p.(Gly97Glu) NC_000011.10:134257166:G:A p.(Gly97Glu) NC_000011.10:134257166:G:A Identity +NM_001142763.2:c.221C>T NP_001136235.1:p.Pro74Leu NC_000010.11:54378893:G:A p.(Pro74Leu) NC_000010.11:54378893:G:A p.(Pro74Leu) NC_000010.11:54378893:G:A Identity +NM_001199579.2:c.282C>A NP_001186508.1:p.Asn94Lys NC_000022.11:38751213:G:T p.(Asn94Lys) NC_000022.11:38751213:G:T p.(Asn94Lys) NC_000022.11:38751213:G:T Identity +NM_001080.3:c.1588G>C NP_001071.1:p.Val530Leu NC_000006.12:24533691:G:C p.(Val530Leu) NC_000006.12:24533691:G:C p.(Val530Leu) NC_000006.12:24533691:G:C Identity +NM_001272003.2:c.409A>G NP_001258932.1:p.Ile137Val NC_000009.12:135756884:A:G p.(Ile137Val) NC_000009.12:135756884:A:G p.(Ile137Val) NC_000009.12:135756884:A:G Identity +NM_001290307.3:c.770A>C NP_001277236.1:p.Asn257Thr NC_000005.10:138824710:A:C p.(Asn257Thr) NC_000005.10:138824710:A:C p.(Asn257Thr) NC_000005.10:138824710:A:C Identity +NM_001346897.2:c.2689G>A NP_001333826.1:p.Asp897Asn NC_000007.14:55198838:G:A p.(Asp897Asn) NC_000007.14:55198838:G:A p.(Asp897Asn) NC_000007.14:55198838:G:A Identity +NM_001007188.4:c.1124A>G NP_001007189.1:p.His375Arg NC_000022.11:31804203:A:G p.(His375Arg) NC_000022.11:31804203:A:G p.(His375Arg) NC_000022.11:31804203:A:G Identity +NM_001318219.1:c.4188C>G NP_001305148.1:p.Asp1396Glu NC_000020.11:35504452:C:G p.(Asp1396Glu) NC_000020.11:35504452:C:G p.(Asp1396Glu) NC_000020.11:35504452:C:G Identity +NM_000038.6:c.6205G>C NP_000029.2:p.Gly2069Arg NC_000005.10:112841798:G:C p.(Gly2069Arg) NC_000005.10:112841798:G:C p.(Gly2069Arg) NC_000005.10:112841798:G:C Identity +NM_001346897.2:c.2039C>T NP_001333826.1:p.Thr680Met NC_000007.14:55174032:C:T p.(Thr680Met) NC_000007.14:55174032:C:T p.(Thr680Met) NC_000007.14:55174032:C:T Identity +NM_014249.4:c.349G>A NP_055064.1:p.Ala117Thr NC_000015.10:71811868:G:A p.(Ala117Thr) NC_000015.10:71811868:G:A p.(Ala117Thr) NC_000015.10:71811868:G:A Identity +NM_032444.4:c.2912_2913delinsGC NP_115820.2:p.Glu971Gly NC_000016.10:3590724:TT:GC p.(Glu971Gly) NC_000016.10:3590724:TT:GC p.(Glu971Gly) NC_000016.10:3590724:TT:GC Identity +NM_003680.4:c.1181T>G NP_003671.1:p.Val394Gly NC_000001.11:32780237:A:C p.(Val394Gly) NC_000001.11:32780237:A:C p.(Val394Gly) NC_000001.11:32780237:A:C Identity +NM_001220482.2:c.733G>A NP_001207411.1:p.Gly245Arg NC_000015.10:37083791:C:T p.(Gly245Arg) NC_000015.10:37083791:C:T p.(Gly245Arg) NC_000015.10:37083791:C:T Identity +NM_000068.4:c.6386G>C NP_000059.3:p.Arg2129Pro NC_000019.10:13209469:C:G p.(Arg2129Pro) NC_000019.10:13209469:C:G p.(Arg2129Pro) NC_000019.10:13209469:C:G Identity +NM_006361.6:c.181A>G NP_006352.2:p.Lys61Glu NC_000017.11:48728412:T:C p.(Lys61Glu) NC_000017.11:48728412:T:C p.(Lys61Glu) NC_000017.11:48728412:T:C Identity +NM_080605.4:c.651del NP_542172.2:p.Tyr218fs NC_000001.11:1232928:C: p.(Tyr218ThrfsTer60) NC_000001.11:1232928:C: p.(Tyr218ThrfsTer60) NC_000001.11:1232928:C: Analogous +NM_001005407.2:c.2566C>T NP_001005407.1:p.Pro856Ser NC_000016.10:1205227:C:T p.(Pro856Ser) NC_000016.10:1205227:C:T p.(Pro856Ser) NC_000016.10:1205227:C:T Identity +NM_020451.3:c.206G>A NP_065184.2:p.Gly69Glu NC_000001.11:25801064:G:A p.(Gly69Glu) NC_000001.11:25801064:G:A p.? NC_000001.11:25801064:G:A Identity +NM_014334.4:c.851T>G NP_055149.3:p.Leu284Arg NC_000009.12:109137485:A:C p.(Leu284Arg) NC_000009.12:109137485:A:C p.(Leu284Arg) NC_000009.12:109137485:A:C Identity +NM_001079878.2:c.1262G>A NP_001073347.1:p.Arg421Gln NC_000002.12:98396485:G:A p.(Arg421Gln) NC_000002.12:98396485:G:A p.(Arg421Gln) NC_000002.12:98396485:G:A Identity +NM_003000.3:c.368A>G NP_002991.2:p.Lys123Arg NC_000001.11:17028654:T:C p.(Lys123Arg) NC_000001.11:17028654:T:C p.(Lys123Arg) NC_000001.11:17028654:T:C Identity +NM_000143.4:c.203A>G NP_000134.2:p.Tyr68Cys NC_000001.11:241517245:T:C p.(Tyr68Cys) NC_000001.11:241517245:T:C p.(Tyr68Cys) NC_000001.11:241517245:T:C Identity +NM_001289905.2:c.460G>C NP_001276834.1:p.Asp154His NC_000022.11:17100390:G:C p.(Asp154His) NC_000022.11:17100390:G:C p.(Asp154His) NC_000022.11:17100390:G:C Identity +NM_145290.4:c.1727G>A NP_660333.2:p.Arg576Lys NC_000004.12:22420967:C:T p.(Arg576Lys) NC_000004.12:22420967:C:T p.(Arg576Lys) NC_000004.12:22420967:C:T Identity +NM_000057.4:c.1349T>A NP_000048.1:p.Met450Lys NC_000015.10:90760721:T:A p.(Met450Lys) NC_000015.10:90760721:T:A p.(Met450Lys) NC_000015.10:90760721:T:A Identity +NM_181882.3:c.4099dup NP_870998.2:p.Ala1367fs NC_000019.10:40394252:CCCC:CCCCC p.(Ala1367GlyfsTer22) NC_000019.10:40394252:CCCC:CCCCC p.(Ala1367GlyfsTer22) ERR:SPDI Analogous +NM_001195227.2:c.1244G>C NP_001182156.1:p.Arg415Pro NC_000019.10:49181441:G:C p.(Arg415Pro) NC_000019.10:49181441:G:C p.(Arg415Pro) NC_000019.10:49181441:G:C Identity +NM_000368.5:c.680T>A NP_000359.1:p.Val227Glu NC_000009.12:132921419:A:T p.(Val227Glu) NC_000009.12:132921419:A:T p.(Val227Glu) NC_000009.12:132921419:A:T Identity +NM_000292.3:c.3491T>A NP_000283.1:p.Val1164Glu NC_000023.11:18894249:A:T p.(Val1164Glu) NC_000023.11:18894249:A:T p.(Val1164Glu) NC_000023.11:18894249:A:T Identity +NM_001004334.4:c.761A>G NP_001004334.3:p.Tyr254Cys NC_000017.11:38343028:T:C p.(Tyr254Cys) NC_000017.11:38343028:T:C p.(Tyr254Cys) NC_000017.11:38343028:T:C Identity +NM_033071.5:c.13273T>G NP_149062.2:p.Cys4425Gly NC_000006.12:152331198:A:C p.(Cys4425Gly) NC_000006.12:152331198:A:C p.(Cys4425Gly) NC_000006.12:152331198:A:C Identity +NM_001130438.3:c.6113T>C NP_001123910.1:p.Ile2038Thr NC_000009.12:128625811:T:C p.(Ile2038Thr) NC_000009.12:128625811:T:C p.(Ile2038Thr) NC_000009.12:128625811:T:C Identity +NM_000445.5:c.3874G>A NP_000436.2:p.Val1292Ile NC_000008.11:143927298:C:T p.(Val1292Ile) NC_000008.11:143927298:C:T p.(Val1292Ile) NC_000008.11:143927298:C:T Identity +NM_001017979.3:c.572A>G NP_001017979.1:p.Gln191Arg NC_000004.12:13376545:T:C p.(Gln191Arg) NC_000004.12:13376545:T:C p.(Gln191Arg) NC_000004.12:13376545:T:C Identity +NM_024675.4:c.3512T>C NP_078951.2:p.Leu1171Ser NC_000016.10:23603507:A:G p.(Leu1171Ser) NC_000016.10:23603507:A:G p.(Leu1171Ser) NC_000016.10:23603507:A:G Identity +NM_001278590.2:c.361G>A NP_001265519.1:p.Gly121Arg NC_000004.12:39463572:G:A p.(Gly121Arg) NC_000004.12:39463572:G:A p.(Gly121Arg) NC_000004.12:39463572:G:A Identity +NM_015164.4:c.1969G>A NP_055979.2:p.Glu657Lys NC_000001.11:15728715:G:A p.(Glu657Lys) NC_000001.11:15728715:G:A p.(Glu657Lys) NC_000001.11:15728715:G:A Identity +NM_000535.7:c.343T>C NP_000526.2:p.Cys115Arg NC_000007.14:6003699:A:G p.(Cys115Arg) NC_000007.14:6003699:A:G p.(Cys115Arg) NC_000007.14:6003699:A:G Identity +NM_000059.4:c.1823A>G NP_000050.3:p.Asp608Gly NC_000013.11:32333300:A:G p.(Asp608Gly) NC_000013.11:32333300:A:G p.(Asp608Gly) NC_000013.11:32333300:A:G Identity +NM_001291902.2:c.2867C>T NP_001278831.1:p.Ala956Val NC_000011.10:68448831:C:T p.(Ala956Val) NC_000011.10:68448831:C:T p.(Ala956Val) NC_000011.10:68448831:C:T Identity +NM_172364.5:c.2219G>A NP_758952.4:p.Trp740Ter NC_000012.12:1853977:C:T p.(Trp740Ter) NC_000012.12:1853977:C:T p.(Trp740Ter) NC_000012.12:1853977:C:T Identity +NM_001171971.3:c.476_477inv NP_001165442.1:p.Ala159Val NC_000010.11:84200637:CA:TG p.(Ala159Val) NC_000010.11:84200637:CA:TG p.(Ala159Val) ERR:SPDI Identity +NM_004946.3:c.2762G>A NP_004937.1:p.Arg921Gln NC_000005.10:169840814:G:A p.(Arg921Gln) NC_000005.10:169840814:G:A p.(Arg921Gln) NC_000005.10:169840814:G:A Identity +NM_001540.5:c.508C>A NP_001531.1:p.Pro170Thr NC_000007.14:76304062:C:A p.(Pro170Thr) NC_000007.14:76304062:C:A p.(Pro170Thr) NC_000007.14:76304062:C:A Identity +NM_001363813.1:c.1696C>G NP_001350742.1:p.Pro566Ala NC_000017.11:65537339:G:C p.(Pro566Ala) NC_000017.11:65537339:G:C p.(Pro566Ala) NC_000017.11:65537339:G:C Identity +NM_032043.3:c.2311T>C NP_114432.2:p.Phe771Leu NC_000017.11:61743080:A:G p.(Phe771Leu) NC_000017.11:61743080:A:G p.(Phe771Leu) NC_000017.11:61743080:A:G Identity +NM_000051.4:c.5007G>C NP_000042.3:p.Glu1669Asp NC_000011.10:108299714:G:C p.(Glu1669Asp) NC_000011.10:108299714:G:C p.(Glu1669Asp) NC_000011.10:108299714:G:C Identity +NM_000136.3:c.278G>A NP_000127.2:p.Cys93Tyr NC_000009.12:95240715:C:T p.(Cys93Tyr) NC_000009.12:95240715:C:T p.(Cys93Tyr) NC_000009.12:95240715:C:T Identity +NM_152383.5:c.1601G>A NP_689596.4:p.Gly534Glu NC_000002.12:232263381:G:A p.(Gly534Glu) NC_000002.12:232263381:G:A p.(Gly534Glu) NC_000002.12:232263381:G:A Identity +NM_000448.3:c.1661A>T NP_000439.2:p.Asp554Val NC_000011.10:36574964:A:T p.(Asp554Val) NC_000011.10:36574964:A:T p.(Asp554Val) NC_000011.10:36574964:A:T Identity +NM_000553.6:c.1400G>A NP_000544.2:p.Ser467Asn NC_000008.11:31085214:G:A p.(Ser467Asn) NC_000008.11:31085214:G:A p.(Ser467Asn) NC_000008.11:31085214:G:A Identity +NM_001113378.2:c.2511G>C NP_001106849.1:p.Glu837Asp NC_000015.10:89294968:G:C p.(Glu837Asp) NC_000015.10:89294968:G:C p.(Glu837Asp) NC_000015.10:89294968:G:C Identity +NM_017780.4:c.7183T>C NP_060250.2:p.Ser2395Pro NC_000008.11:60856462:T:C p.(Ser2395Pro) NC_000008.11:60856462:T:C p.(Ser2395Pro) NC_000008.11:60856462:T:C Identity +NM_001103.4:c.1232C>A NP_001094.1:p.Ser411Ter NC_000001.11:236743019:C:A p.(Ser411Ter) NC_000001.11:236743019:C:A p.(Ser411Ter) NC_000001.11:236743019:C:A Identity +NM_001282368.2:c.635C>G NP_001269297.1:p.Pro212Arg NC_000006.12:76007497:G:C p.(Pro212Arg) NC_000006.12:76007497:G:C p.(Pro212Arg) NC_000006.12:76007497:G:C Identity +NM_001015880.2:c.1786C>T NP_001015880.1:p.Pro596Ser NC_000010.11:87745895:C:T p.(Pro596Ser) NC_000010.11:87745895:C:T p.(Pro596Ser) NC_000010.11:87745895:C:T Identity +NM_000089.4:c.3880G>C NP_000080.2:p.Gly1294Arg NC_000007.14:94429355:G:C p.(Gly1294Arg) NC_000007.14:94429355:G:C p.(Gly1294Arg) NC_000007.14:94429355:G:C Identity +NM_152383.5:c.1642G>A NP_689596.4:p.Ala548Thr NC_000002.12:232263422:G:A p.(Ala548Thr) NC_000002.12:232263422:G:A p.(Ala548Thr) NC_000002.12:232263422:G:A Identity +NM_001203263.2:c.737C>A NP_001190192.2:p.Pro246Gln NC_000003.12:9923994:C:A p.(Pro246Gln) NC_000003.12:9923994:C:A p.(Pro246Gln) NC_000003.12:9923994:C:A Identity +NM_004531.5:c.550T>G NP_004522.1:p.Trp184Gly NC_000005.10:53098618:A:C p.(Trp184Gly) NC_000005.10:53098618:A:C p.(Trp184Gly) NC_000005.10:53098618:A:C Identity +NM_021620.4:c.370A>G NP_067633.2:p.Thr124Ala NC_000006.12:99609279:A:G p.(Thr124Ala) NC_000006.12:99609279:A:G p.(Thr124Ala) NC_000006.12:99609279:A:G Identity +NM_000426.4:c.666A>C NP_000417.3:p.Arg222Ser NC_000006.12:129143926:A:C p.(Arg222Ser) NC_000006.12:129143926:A:C p.(Arg222Ser) NC_000006.12:129143926:A:C Identity +NM_024753.5:c.1883G>A NP_079029.3:p.Arg628His NC_000002.12:165917272:C:T p.(Arg628His) NC_000002.12:165917272:C:T p.(Arg628His) NC_000002.12:165917272:C:T Identity +NM_000112.4:c.902A>G NP_000103.2:p.Asn301Ser NC_000005.10:149980494:A:G p.(Asn301Ser) NC_000005.10:149980494:A:G p.(Asn301Ser) NC_000005.10:149980494:A:G Identity +NM_001282424.3:c.2418G>A NP_001269353.2:p.Met806Ile NC_000012.12:8868014:G:A p.(Met806Ile) NC_000012.12:8868014:G:A p.(Met806Ile) NC_000012.12:8868014:G:A Identity +NM_001003786.3:c.471G>C NP_001003786.1:p.Arg157Ser NC_000017.11:63707417:C:G p.(Arg157Ser) NC_000017.11:63707417:C:G p.(Arg157Ser) NC_000017.11:63707417:C:G Identity +NM_001005373.4:c.2129G>A NP_001005373.1:p.Arg710His NC_000009.12:127502855:G:A p.(Arg710His) NC_000009.12:127502855:G:A p.(Arg710His) NC_000009.12:127502855:G:A Identity +NM_001324281.3:c.2006C>T NP_001311210.1:p.Thr669Met NC_000007.14:2923267:G:A p.(Thr669Met) NC_000007.14:2923267:G:A p.(Thr669Met) NC_000007.14:2923267:G:A Identity +NM_001244008.2:c.1299C>G NP_001230937.1:p.Ile433Met NC_000002.12:240771012:G:C p.(Ile433Met) NC_000002.12:240771012:G:C p.(Ile433Met) NC_000002.12:240771012:G:C Identity +NM_001365999.1:c.403C>T NP_001352928.1:p.Pro135Ser NC_000001.11:43404454:C:T p.(Pro135Ser) NC_000001.11:43404454:C:T p.(Pro135Ser) NC_000001.11:43404454:C:T Identity +NM_006231.4:c.6509G>A NP_006222.2:p.Cys2170Tyr NC_000012.12:132626138:C:T p.(Cys2170Tyr) NC_000012.12:132626138:C:T p.(Cys2170Tyr) NC_000012.12:132626138:C:T Identity +NM_001330609.2:c.1564C>T NP_001317538.1:p.Arg522Ter NC_000008.11:125056684:G:A p.(Arg522Ter) NC_000008.11:125056684:G:A p.(Arg522Ter) NC_000008.11:125056684:G:A Identity +NM_001349253.2:c.859G>A NP_001336182.1:p.Asp287Asn NC_000003.12:38921108:C:T p.(Asp287Asn) NC_000003.12:38921108:C:T p.(Asp287Asn) NC_000003.12:38921108:C:T Identity +NM_001130442.3:c.463G>A NP_001123914.1:p.Ala155Thr NC_000011.10:532742:C:T p.(Ala155Thr) NC_000011.10:532742:C:T p.(Ala155Thr) NC_000011.10:532742:C:T Identity +NM_000081.4:c.2756C>T NP_000072.2:p.Ser919Leu NC_000001.11:235806379:G:A p.(Ser919Leu) NC_000001.11:235806379:G:A p.(Ser919Leu) NC_000001.11:235806379:G:A Identity +NM_001007188.4:c.347G>A NP_001007189.1:p.Arg116Gln NC_000022.11:31766651:G:A p.(Arg116Gln) NC_000022.11:31766651:G:A p.(Arg116Gln) NC_000022.11:31766651:G:A Identity +NM_001317184.2:c.2234A>G NP_001304113.1:p.Glu745Gly NC_000016.10:68829774:A:G p.(Glu745Gly) NC_000016.10:68829774:A:G p.(Glu745Gly) NC_000016.10:68829774:A:G Identity +NM_000044.6:c.2159C>T NP_000035.2:p.Ala720Val NC_000023.11:67711674:C:T p.(Ala720Val) NC_000023.11:67711674:C:T p.(Ala720Val) NC_000023.11:67711674:C:T Identity +NM_001365951.3:c.5260T>G NP_001352880.1:p.Tyr1754Asp NC_000001.11:10375016:T:G p.(Tyr1754Asp) NC_000001.11:10375016:T:G p.(Tyr1754Asp) NC_000001.11:10375016:T:G Identity +NM_012448.4:c.599G>A NP_036580.2:p.Arg200Gln NC_000017.11:42219793:C:T p.(Arg200Gln) NC_000017.11:42219793:C:T p.(Arg200Gln) NC_000017.11:42219793:C:T Identity +NM_000111.3:c.1384T>C NP_000102.1:p.Trp462Arg NC_000007.14:107779690:A:G p.(Trp462Arg) NC_000007.14:107779690:A:G p.(Trp462Arg) NC_000007.14:107779690:A:G Identity +NM_001146158.2:c.1527_1528insT NP_001139630.1:p.Glu510Ter NC_000002.12:74461943::A p.(Glu510Ter) NC_000002.12:74461942:C:A p.(Glu510Ter) NC_000002.12:74461943:CT:A Identity +NM_001130066.2:c.2657C>T NP_001123538.1:p.Thr886Met NC_000006.12:33443250:C:T p.(Thr886Met) NC_000006.12:33443250:C:T p.(Thr886Met) NC_000006.12:33443250:C:T Identity +NM_001286957.2:c.868C>T NP_001273886.1:p.Arg290Trp NC_000012.12:48921284:C:T p.(Arg290Trp) NC_000012.12:48921284:C:T p.(Arg290Trp) NC_000012.12:48921284:C:T Identity +NM_000318.3:c.23C>T NP_000309.2:p.Ala8Val NC_000008.11:76984155:G:A p.(Ala8Val) NC_000008.11:76984155:G:A p.(Ala8Val) NC_000008.11:76984155:G:A Identity +NM_001267727.2:c.1171G>A NP_001254656.1:p.Val391Ile NC_000017.11:68395151:G:A p.(Val391Ile) NC_000017.11:68395151:G:A p.(Val391Ile) NC_000017.11:68395151:G:A Identity +NM_014141.6:c.2946G>C NP_054860.1:p.Glu982Asp NC_000007.14:148172413:G:C p.(Glu982Asp) NC_000007.14:148172413:G:C p.(Glu982Asp) NC_000007.14:148172413:G:C Identity +NM_000553.6:c.58A>G NP_000544.2:p.Asn20Asp NC_000008.11:31058504:A:G p.(Asn20Asp) NC_000008.11:31058504:A:G p.(Asn20Asp) NC_000008.11:31058504:A:G Identity +NM_001256213.2:c.79G>A NP_001243142.1:p.Gly27Ser NC_000019.10:41988522:C:T p.(Gly27Ser) NC_000019.10:41988522:C:T p.(Gly27Ser) NC_000019.10:41988522:C:T Identity +NM_020461.4:c.1287C>G NP_065194.3:p.Phe429Leu NC_000022.11:50229406:G:C p.(Phe429Leu) NC_000022.11:50229406:G:C p.(Phe429Leu) NC_000022.11:50229406:G:C Identity +NM_001048171.2:c.234A>C NP_001041636.2:p.Gln78His NC_000001.11:45333442:T:G p.(Gln78His) NC_000001.11:45333442:T:G p.(Gln78His) NC_000001.11:45333442:T:G Identity +NM_002661.5:c.1895C>T NP_002652.2:p.Thr632Met NC_000016.10:81910680:C:T p.(Thr632Met) NC_000016.10:81910680:C:T p.(Thr632Met) NC_000016.10:81910680:C:T Identity +NM_152393.4:c.1136_1137delinsAA NP_689606.2:p.Ser379Lys NC_000003.12:42686753:GC:AA p.(Ser379Lys) NC_000003.12:42686753:GC:AA p.(Ser379Lys) NC_000003.12:42686753:GC:AA Identity +NM_006267.5:c.6728T>C NP_006258.3:p.Val2243Ala NC_000002.12:108767266:T:C p.(Val2243Ala) NC_000002.12:108767266:T:C p.(Val2243Ala) NC_000002.12:108767266:T:C Identity +NM_000083.3:c.2243T>G NP_000074.3:p.Leu748Arg NC_000007.14:143346209:T:G p.(Leu748Arg) NC_000007.14:143346209:T:G p.(Leu748Arg) NC_000007.14:143346209:T:G Identity +NM_001006657.2:c.817T>G NP_001006658.1:p.Phe273Val NC_000002.12:19973627:A:C p.(Phe273Val) NC_000002.12:19973627:A:C p.(Phe273Val) NC_000002.12:19973627:A:C Identity +NM_001031714.4:c.3475C>T NP_001026884.3:p.Arg1159Cys NC_000014.9:104714636:C:T p.(Arg1159Cys) NC_000014.9:104714636:C:T p.(Arg1159Cys) NC_000014.9:104714636:C:T Identity +NM_001282424.3:c.1957T>C NP_001269353.2:p.Phe653Leu NC_000012.12:8861224:T:C p.(Phe653Leu) NC_000012.12:8861224:T:C p.(Phe653Leu) NC_000012.12:8861224:T:C Identity +NM_001184985.2:c.5314A>G NP_001171914.1:p.Ser1772Gly NC_000012.12:885337:A:G p.(Ser1772Gly) NC_000012.12:885337:A:G p.(Ser1772Gly) NC_000012.12:885337:A:G Identity +NM_001079.4:c.304T>G NP_001070.2:p.Cys102Gly NC_000002.12:97724339:T:G p.(Cys102Gly) NC_000002.12:97724339:T:G p.(Cys102Gly) NC_000002.12:97724339:T:G Identity +NM_000368.5:c.3281A>T NP_000359.1:p.Glu1094Val NC_000009.12:132896448:T:A p.(Glu1094Val) NC_000009.12:132896448:T:A p.(Glu1094Val) NC_000009.12:132896448:T:A Identity +NM_001244008.2:c.2359C>T NP_001230937.1:p.Arg787Trp NC_000002.12:240760749:G:A p.(Arg787Trp) NC_000002.12:240760749:G:A p.(Arg787Trp) NC_000002.12:240760749:G:A Identity +NM_006939.4:c.3957G>T NP_008870.2:p.Leu1319Phe NC_000014.9:50118385:C:A p.(Leu1319Phe) NC_000014.9:50118385:C:A p.(Leu1319Phe) NC_000014.9:50118385:C:A Identity +NM_001142301.1:c.2107T>G NP_001135773.1:p.Cys703Gly NC_000008.11:93804788:T:G p.(Cys703Gly) NC_000008.11:93804788:T:G p.(Cys703Gly) NC_000008.11:93804788:T:G Identity +NM_001365536.1:c.878T>A NP_001352465.1:p.Leu293Gln NC_000002.12:166303112:A:T p.(Leu293Gln) NC_000002.12:166303112:A:T p.(Leu293Gln) NC_000002.12:166303112:A:T Identity +NM_199242.3:c.98C>T NP_954712.1:p.Pro33Leu NC_000017.11:75844239:G:A p.(Pro33Leu) NC_000017.11:75844239:G:A p.(Pro33Leu) NC_000017.11:75844239:G:A Identity +NM_015072.5:c.3562T>C NP_055887.3:p.Trp1188Arg NC_000014.9:75882723:T:C p.(Trp1188Arg) NC_000014.9:75882723:T:C p.(Trp1188Arg) NC_000014.9:75882723:T:C Identity +NM_001103.4:c.59T>C NP_001094.1:p.Met20Thr NC_000001.11:236686731:T:C p.(Met20Thr) NC_000001.11:236686731:T:C p.(Met20Thr) NC_000001.11:236686731:T:C Identity +NM_001203.3:c.745C>G NP_001194.1:p.Gln249Glu NC_000004.12:95130020:C:G p.(Gln249Glu) NC_000004.12:95130020:C:G p.(Gln249Glu) NC_000004.12:95130020:C:G Identity +NM_145290.4:c.1105G>A NP_660333.2:p.Gly369Ser NC_000004.12:22436621:C:T p.(Gly369Ser) NC_000004.12:22436621:C:T p.(Gly369Ser) NC_000004.12:22436621:C:T Identity +NM_000061.3:c.77A>G NP_000052.1:p.Lys26Arg NC_000023.11:101375207:T:C p.(Lys26Arg) NC_000023.11:101375207:T:C p.(Lys26Arg) NC_000023.11:101375207:T:C Identity +NM_000445.5:c.9641G>A NP_000436.2:p.Gly3214Glu NC_000008.11:143920260:C:T p.(Gly3214Glu) NC_000008.11:143920260:C:T p.(Gly3214Glu) NC_000008.11:143920260:C:T Identity +NM_002180.3:c.1067C>T NP_002171.2:p.Ser356Phe NC_000011.10:68929188:C:T p.(Ser356Phe) NC_000011.10:68929188:C:T p.(Ser356Phe) NC_000011.10:68929188:C:T Identity +NM_002439.5:c.1833A>G NP_002430.3:p.Ile611Met NC_000005.10:80761614:A:G p.(Ile611Met) NC_000005.10:80761614:A:G p.(Ile611Met) NC_000005.10:80761614:A:G Identity +NM_000455.5:c.1192G>A NP_000446.1:p.Ala398Thr NC_000019.10:1226536:G:A p.(Ala398Thr) NC_000019.10:1226536:G:A p.(Ala398Thr) NC_000019.10:1226536:G:A Identity +NM_000341.4:c.1370dup NP_000332.2:p.Leu457fs NC_000002.12:44312620:TTT:TTTT p.(Leu457PhefsTer40) NC_000002.12:44312620:TTT:TTTT p.(Leu457PhefsTer40) ERR:SPDI Analogous +NM_001079878.2:c.1604T>A NP_001073347.1:p.Leu535Gln NC_000002.12:98396827:T:A p.(Leu535Gln) NC_000002.12:98396827:T:A p.(Leu535Gln) NC_000002.12:98396827:T:A Identity +NM_001165412.2:c.136del NP_001158884.1:p.Ile46fs NC_000004.12:102533862:AAA:AA p.(Ile46TyrfsTer2) NC_000004.12:102533862:AAA:AA p.(Ile46TyrfsTer2) NC_000004.12:102533864:A: Analogous +NM_001079878.2:c.757C>A NP_001073347.1:p.Pro253Thr NC_000002.12:98395980:C:A p.(Pro253Thr) NC_000002.12:98395980:C:A p.(Pro253Thr) NC_000002.12:98395980:C:A Identity +NM_000334.4:c.2108T>C NP_000325.4:p.Leu703Pro NC_000017.11:63957429:A:G p.(Leu703Pro) NC_000017.11:63957429:A:G p.(Leu703Pro) NC_000017.11:63957429:A:G Identity +NM_001190995.2:c.1664del NP_001177924.1:p.Leu555fs NC_000012.12:30639724:A: p.(Leu555ProfsTer10) NC_000012.12:30639724:A: p.(Leu555ProfsTer10) NC_000012.12:30639724:A: Analogous +NM_001199777.2:c.299G>A NP_001186706.1:p.Arg100Gln NC_000012.12:89491962:C:T p.(Arg100Gln) NC_000012.12:89491962:C:T p.(Arg100Gln) NC_000012.12:89491962:C:T Identity +NM_000203.5:c.1303C>G NP_000194.2:p.Arg435Gly NC_000004.12:1002844:C:G p.(Arg435Gly) NC_000004.12:1002844:C:G p.(Arg435Gly) NC_000004.12:1002844:C:G Identity +NM_017890.5:c.4205T>G NP_060360.3:p.Leu1402Arg NC_000008.11:99507816:T:G p.(Leu1402Arg) NC_000008.11:99507816:T:G p.(Leu1402Arg) NC_000008.11:99507816:T:G Identity +NM_000833.5:c.3952C>G NP_000824.1:p.Arg1318Gly NC_000016.10:9763591:G:C p.(Arg1318Gly) NC_000016.10:9763591:G:C p.(Arg1318Gly) NC_000016.10:9763591:G:C Identity +NM_001329903.2:c.838_839del NP_001316832.1:p.Leu280fs NC_000017.11:1776582:CT: p.(Leu280GlufsTer20) NC_000017.11:1776582:CT: p.(Leu280GlufsTer20) NC_000017.11:1776582:CT: Analogous +NM_057176.3:c.64G>A NP_476517.1:p.Gly22Ser NC_000001.11:54999249:G:A p.(Gly22Ser) NC_000001.11:54999249:G:A p.(Gly22Ser) NC_000001.11:54999249:G:A Identity +NM_021005.4:c.269A>G NP_066285.1:p.His90Arg NC_000015.10:96332373:A:G p.(His90Arg) NC_000015.10:96332373:A:G p.(His90Arg) NC_000015.10:96332373:A:G Identity +NM_001001331.4:c.10A>G NP_001001331.1:p.Met4Val NC_000003.12:10449533:T:C p.(Met4Val) NC_000003.12:10449533:T:C p.(Met4Val) NC_000003.12:10449533:T:C Identity +NM_001177984.3:c.5039G>A NP_001171455.1:p.Cys1680Tyr NC_000012.12:51806647:G:A p.(Cys1680Tyr) NC_000012.12:51806647:G:A p.(Cys1680Tyr) NC_000012.12:51806647:G:A Identity +NM_004700.4:c.1251del NP_004691.2:p.Cys418fs NC_000001.11:40824215:CC:C p.(Cys418AlafsTer78) NC_000001.11:40824215:CC:C p.(Cys418AlafsTer78) NC_000001.11:40824216:C: Analogous +NM_001300899.2:c.866_869del NP_001287828.1:p.Lys289fs NC_000006.12:75844942:ACAAACA:ACA p.(Lys289ArgfsTer17) NC_000006.12:75844942:ACAAACA:ACA p.(Lys289ArgfsTer17) NC_000006.12:75844945:AACA: Analogous +NM_000395.3:c.1973C>T NP_000386.1:p.Pro658Leu NC_000022.11:36937780:C:T p.(Pro658Leu) NC_000022.11:36937780:C:T p.(Pro658Leu) NC_000022.11:36937780:C:T Identity +NM_000033.4:c.1281A>T NP_000024.2:p.Glu427Asp NC_000023.11:153736400:A:T p.(Glu427Asp) NC_000023.11:153736400:A:T p.(Glu427Asp) NC_000023.11:153736400:A:T Identity +NM_014332.3:c.140del NP_055147.1:p.Pro47fs NC_000023.11:21737689:GG:G p.(Pro47LeufsTer34) NC_000023.11:21737689:GG:G p.(Pro47LeufsTer34) NC_000023.11:21737689:G: Analogous +NM_024334.3:c.743T>G NP_077310.1:p.Leu248Arg NC_000003.12:14135194:T:G p.(Leu248Arg) NC_000003.12:14135194:T:G p.(Leu248Arg) NC_000003.12:14135194:T:G Identity +NM_000552.5:c.2310dup NP_000543.3:p.Met771fs NC_000012.12:6044422:GGGGGG:GGGGGGG p.(Met771HisfsTer9) NC_000012.12:6044422:GGGGGG:GGGGGGG p.(Met771HisfsTer9) ERR:SPDI Analogous +NM_002524.5:c.490C>T NP_002515.1:p.Arg164Cys NC_000001.11:114708614:G:A p.(Arg164Cys) NC_000001.11:114708614:G:A p.(Arg164Cys) NC_000001.11:114708614:G:A Identity +NM_001131010.4:c.2110G>A NP_001124482.1:p.Gly704Ser NC_000003.12:18349351:C:T p.(Gly704Ser) NC_000003.12:18349351:C:T p.(Gly704Ser) NC_000003.12:18349351:C:T Identity +NM_080679.3:c.2780G>A NP_542410.2:p.Arg927His NC_000006.12:33171761:C:T p.(Arg927His) NC_000006.12:33171761:C:T p.(Arg927His) NC_000006.12:33171761:C:T Identity +NM_001267727.2:c.1270C>T NP_001254656.1:p.Arg424Cys NC_000017.11:68401416:C:T p.(Arg424Cys) NC_000017.11:68401416:C:T p.(Arg424Cys) NC_000017.11:68401416:C:T Identity +NM_000552.5:c.1116C>A NP_000543.3:p.Cys372Ter NC_000012.12:6071336:G:T p.(Cys372Ter) NC_000012.12:6071336:G:T p.(Cys372Ter) NC_000012.12:6071336:G:T Identity +NM_002470.4:c.841G>A NP_002461.2:p.Glu281Lys NC_000017.11:10647238:C:T p.(Glu281Lys) NC_000017.11:10647238:C:T p.(Glu281Lys) NC_000017.11:10647238:C:T Identity +NM_006015.6:c.175G>T NP_006006.3:p.Glu59Ter NC_000001.11:26696577:G:T p.(Glu59Ter) NC_000001.11:26696577:G:T p.(Glu59Ter) NC_000001.11:26696577:G:T Identity +NM_001277269.2:c.918C>G NP_001264198.1:p.Asp306Glu NC_000011.10:17558200:C:G p.(Asp306Glu) NC_000011.10:17558200:C:G p.(Asp306Glu) NC_000011.10:17558200:C:G Identity +NM_000466.3:c.2873_2875delinsT NP_000457.1:p.Asp958fs NC_000007.14:92494537:GGT:A p.(Asp958ValfsTer4) NC_000007.14:92494537:GGT:A p.(Asp958ValfsTer4) NC_000007.14:92494537:GGT:A Analogous +NM_015335.5:c.3033C>G NP_056150.1:p.Asp1011Glu NC_000012.12:115991920:G:C p.(Asp1011Glu) NC_000012.12:115991920:G:C p.(Asp1011Glu) NC_000012.12:115991920:G:C Identity +NM_001276479.2:c.2053C>T NP_001263408.1:p.Pro685Ser NC_000019.10:5694461:G:A p.(Pro685Ser) NC_000019.10:5694461:G:A p.(Pro685Ser) NC_000019.10:5694461:G:A Identity +NM_001079878.2:c.1835T>C NP_001073347.1:p.Val612Ala NC_000002.12:98397058:T:C p.(Val612Ala) NC_000002.12:98397058:T:C p.(Val612Ala) NC_000002.12:98397058:T:C Identity +NM_014946.4:c.1606C>T NP_055761.2:p.Gln536Ter NC_000002.12:32143404:C:T p.(Gln536Ter) NC_000002.12:32143404:C:T p.(Gln536Ter) NC_000002.12:32143404:C:T Identity +NM_001348710.2:c.1A>G NP_001335639.1:p.Met1Val NC_000006.12:33789115:T:C p.(Met1Val) NC_000006.12:33789115:T:C p.Met1? NC_000006.12:33789115:T:C Identity +NM_032119.4:c.12380_12381del NP_115495.3:p.Glu4127fs NC_000005.10:90774278:GAG:G p.(Glu4127GlyfsTer9) NC_000005.10:90774278:GAG:G p.(Glu4127GlyfsTer9) NC_000005.10:90774279:AG: Analogous +NM_000552.5:c.2018_2019del NP_000543.3:p.Ser673fs NC_000012.12:6052709:AGAGAGAGAG:AGAGAGAG p.(Ser673LeufsTer4) NC_000012.12:6052709:AGAGAGAGAG:AGAGAGAG p.(Ser673LeufsTer4) NC_000012.12:6052709:AG: Analogous +NM_000552.5:c.6634T>C NP_000543.3:p.Cys2212Arg NC_000012.12:5991982:A:G p.(Cys2212Arg) NC_000012.12:5991982:A:G p.(Cys2212Arg) NC_000012.12:5991982:A:G Identity +NM_001351846.2:c.967G>C NP_001338775.1:p.Ala323Pro NC_000016.10:1500128:G:C p.(Ala323Pro) NC_000016.10:1500128:G:C p.(Ala323Pro) NC_000016.10:1500128:G:C Identity +NM_001040667.3:c.190A>G NP_001035757.1:p.Lys64Glu NC_000016.10:67165587:A:G p.(Lys64Glu) NC_000016.10:67165587:A:G p.(Lys64Glu) NC_000016.10:67165587:A:G Identity +NM_001297614.3:c.512del NP_001284543.1:p.Arg171fs NC_000006.12:85565368:C: p.(Arg171LeufsTer7) NC_000006.12:85565368:C: p.(Arg171LeufsTer7) NC_000006.12:85565368:C: Analogous +NM_001354263.2:c.3304T>C NP_001341192.1:p.Cys1102Arg NC_000009.12:137816012:T:C p.(Cys1102Arg) NC_000009.12:137816012:T:C p.(Cys1102Arg) NC_000009.12:137816012:T:C Identity +NM_000087.5:c.1704_1705insT NP_000078.3:p.Leu569fs NC_000004.12:47936777::A p.(Leu569SerfsTer8) NC_000004.12:47936776:G:A p.(Leu569SerfsTer8) NC_000004.12:47936777:GG:A Analogous +NM_001304351.2:c.1709C>G NP_001291280.1:p.Ser570Trp NC_000008.11:24341635:C:G p.(Ser570Trp) NC_000008.11:24341635:C:G p.(Ser570Trp) NC_000008.11:24341635:C:G Identity +NM_001001890.3:c.732del NP_001001890.1:p.Arg244fs NC_000021.9:34799454:CC:C p.(Arg244SerfsTer40) NC_000021.9:34799454:CC:C p.(Arg244SerfsTer40) NC_000021.9:34799454:C: Analogous +NM_001163817.2:c.1324C>G NP_001157289.1:p.His442Asp NC_000011.10:71435478:G:C p.(His442Asp) NC_000011.10:71435478:G:C p.(His442Asp) NC_000011.10:71435478:G:C Identity +NM_001369080.1:c.292G>A NP_001356009.1:p.Gly98Ser NC_000023.11:2955505:C:T p.(Gly98Ser) NC_000023.11:2955505:C:T p.(Gly98Ser) NC_000023.11:2955505:C:T Identity +NM_138694.4:c.2T>C NP_619639.3:p.Met1Thr NC_000006.12:52084931:A:G p.(Met1Thr) NC_000006.12:52084931:A:G p.Met1? NC_000006.12:52084931:A:G Identity +NM_015629.4:c.136del NP_056444.3:p.Asp46fs NC_000019.10:54118410:GGGG:GGG p.(Asp46IlefsTer19) NC_000019.10:54118410:GGGG:GGG p.(Asp46IlefsTer19) NC_000019.10:54118413:G: Analogous +NM_000329.3:c.1282G>T NP_000320.1:p.Gly428Trp NC_000001.11:68431337:C:A p.(Gly428Trp) NC_000001.11:68431337:C:A p.(Gly428Trp) NC_000001.11:68431337:C:A Identity +NM_000086.2:c.317T>A NP_000077.1:p.Leu106His NC_000016.10:28487718:A:T p.(Leu106His) NC_000016.10:28487718:A:T p.(Leu106His) NC_000016.10:28487718:A:T Identity +NM_000516.7:c.682C>T NP_000507.1:p.Arg228Cys NC_000020.11:58909542:C:T p.(Arg228Cys) NC_000020.11:58909542:C:T p.(Arg228Cys) NC_000020.11:58909542:C:T Identity +NM_000170.3:c.2678C>T NP_000161.2:p.Pro893Leu NC_000009.12:6536223:G:A p.(Pro893Leu) NC_000009.12:6536223:G:A p.(Pro893Leu) NC_000009.12:6536223:G:A Identity +NM_000495.5:c.3809G>A NP_000486.1:p.Gly1270Asp NC_000023.11:108677517:G:A p.(Gly1270Asp) NC_000023.11:108677517:G:A p.(Gly1270Asp) NC_000023.11:108677517:G:A Identity +NM_000495.5:c.3755G>A NP_000486.1:p.Gly1252Asp NC_000023.11:108668468:G:A p.(Gly1252Asp) NC_000023.11:108668468:G:A p.(Gly1252Asp) NC_000023.11:108668468:G:A Identity +NM_001244710.2:c.44C>T NP_001231639.1:p.Thr15Met NC_000002.12:69374076:G:A p.(Thr15Met) NC_000002.12:69374076:G:A p.(Thr15Met) NC_000002.12:69374076:G:A Identity +NM_001256850.1:c.93213del NP_001243779.1:p.Gly31072fs NC_000002.12:178539928:TT:T p.(Gly31072ValfsTer4) NC_000002.12:178539928:TT:T p.(Gly31072ValfsTer4) NC_000002.12:178539928:T: Analogous +NM_000143.4:c.563A>T NP_000134.2:p.Asn188Ile NC_000001.11:241508777:T:A p.(Asn188Ile) NC_000001.11:241508777:T:A p.(Asn188Ile) NC_000001.11:241508777:T:A Identity +NM_000170.3:c.1847A>T NP_000161.2:p.Asn616Ile NC_000009.12:6587143:T:A p.(Asn616Ile) NC_000009.12:6587143:T:A p.(Asn616Ile) NC_000009.12:6587143:T:A Identity +NM_000495.5:c.637G>C NP_000486.1:p.Gly213Arg NC_000023.11:108577978:G:C p.(Gly213Arg) NC_000023.11:108577978:G:C p.(Gly213Arg) NC_000023.11:108577978:G:C Identity +NM_000540.3:c.14582G>C NP_000531.2:p.Arg4861Pro NC_000019.10:38580439:G:C p.(Arg4861Pro) NC_000019.10:38580439:G:C p.(Arg4861Pro) NC_000019.10:38580439:G:C Identity +NM_206933.4:c.14396C>T NP_996816.3:p.Thr4799Ile NC_000001.11:215648713:G:A p.(Thr4799Ile) NC_000001.11:215648713:G:A p.(Thr4799Ile) NC_000001.11:215648713:G:A Identity +NM_020982.4:c.416C>T NP_066192.1:p.Thr139Met NC_000016.10:3013777:C:T p.(Thr139Met) NC_000016.10:3013777:C:T p.(Thr139Met) NC_000016.10:3013777:C:T Identity +NM_001039141.3:c.4436del NP_001034230.1:p.Gly1479fs NC_000022.11:37734765:GGGGGGG:GGGGGG p.(Gly1479AlafsTer28) NC_000022.11:37734765:GGGGGGG:GGGGGG p.(Gly1479AlafsTer28) NC_000022.11:37734771:G: Analogous +NM_000720.4:c.3742G>A NP_000711.1:p.Glu1248Lys NC_000003.12:53753577:G:A p.(Glu1248Lys) NC_000003.12:53753577:G:A p.(Glu1248Lys) NC_000003.12:53753577:G:A Identity +NM_000441.2:c.1280C>A NP_000432.1:p.Ser427Tyr NC_000007.14:107694418:C:A p.(Ser427Tyr) NC_000007.14:107694418:C:A p.(Ser427Tyr) NC_000007.14:107694418:C:A Identity +NM_001256850.1:c.100691del NP_001243779.1:p.Asn33564fs NC_000002.12:178531000:TTTT:TTT p.(Asn33564ThrfsTer12) NC_000002.12:178531000:TTTT:TTT p.(Asn33564ThrfsTer12) NC_000002.12:178531000:T: Analogous +NM_001035.3:c.14174A>G NP_001026.2:p.Tyr4725Cys NC_000001.11:237806158:A:G p.(Tyr4725Cys) NC_000001.11:237806158:A:G p.(Tyr4725Cys) NC_000001.11:237806158:A:G Identity +NM_000402.4:c.1094C>A NP_000393.4:p.Ala365Asp NC_000023.11:154532988:G:T p.(Ala365Asp) NC_000023.11:154532988:G:T p.(Ala365Asp) NC_000023.11:154532988:G:T Identity +NM_001174089.2:c.2402dup NP_001167560.1:p.Thr802fs NC_000020.11:3228414:GGGGGG:GGGGGGG p.(Thr802AspfsTer61) NC_000020.11:3228414:GGGGGG:GGGGGGG p.(Thr802AspfsTer61) ERR:SPDI Analogous +NM_001308133.2:c.5123del NP_001295062.1:p.Thr1708fs NC_000014.9:45189222:C: p.(Thr1708AsnfsTer3) NC_000014.9:45189222:C: p.(Thr1708AsnfsTer3) NC_000014.9:45189222:C: Analogous +NM_001379352.1:c.295G>A NP_001366281.1:p.Gly99Arg NC_000001.11:146019536:C:T p.(Gly99Arg) NC_000001.11:146019536:C:T p.(Gly99Arg) NC_000001.11:146019536:C:T Identity +NM_001024688.3:c.1851_1852del NP_001019859.1:p.Pro618fs NC_000008.11:89943338:GA: p.(Pro618ThrfsTer41) NC_000008.11:89943338:GA: p.(Pro618ThrfsTer41) NC_000008.11:89943338:GA: Analogous +NM_000317.3:c.367C>T NP_000308.1:p.Pro123Ser NC_000011.10:112233483:C:T p.(Pro123Ser) NC_000011.10:112233483:C:T p.(Pro123Ser) NC_000011.10:112233483:C:T Identity +NM_001256850.1:c.87581del NP_001243779.1:p.Lys29194fs NC_000002.12:178549121:TTT:TT p.(Lys29194ArgfsTer4) NC_000002.12:178549121:TTT:TT p.(Lys29194ArgfsTer4) NC_000002.12:178549121:T: Analogous +NM_025099.6:c.1A>C NP_079375.3:p.Met1Leu NC_000017.11:8248035:T:G p.(Met1Leu) NC_000017.11:8248035:T:G p.Met1? NC_000017.11:8248035:T:G Identity +NM_001165963.4:c.1294G>C NP_001159435.1:p.Ala432Pro NC_000002.12:166046852:C:G p.(Ala432Pro) NC_000002.12:166046852:C:G p.(Ala432Pro) NC_000002.12:166046852:C:G Identity +NM_001300907.1:c.93C>A NP_001287836.1:p.Tyr31Ter NC_000011.10:68173847:G:T p.(Tyr31Ter) NC_000011.10:68173847:G:T p.(Tyr31Ter) NC_000011.10:68173847:G:T Identity +NM_001382235.1:c.1695G>C NP_001369164.1:p.Lys565Asn NC_000020.11:63413463:C:G p.(Lys565Asn) NC_000020.11:63413463:C:G p.(Lys565Asn) NC_000020.11:63413463:C:G Identity +NM_001130916.3:c.774A>T NP_001124388.1:p.Lys258Asn NC_000009.12:99144762:A:T p.(Lys258Asn) NC_000009.12:99144762:A:T p.(Lys258Asn) NC_000009.12:99144762:A:T Identity +NM_001089.3:c.1729_1730del NP_001080.2:p.Ser577fs NC_000016.10:2299413:GAGAG:GAG p.(Ser577HisfsTer19) NC_000016.10:2299413:GAGAG:GAG p.(Ser577HisfsTer19) NC_000016.10:2299413:GA: Analogous +NM_003482.4:c.11578C>T NP_003473.3:p.Gln3860Ter NC_000012.12:49033126:G:A p.(Gln3860Ter) NC_000012.12:49033126:G:A p.(Gln3860Ter) NC_000012.12:49033126:G:A Identity +NM_005732.4:c.1019_1022del NP_005723.2:p.Asn340fs NC_000005.10:132588053:TCAATCA:TCA p.(Asn340ArgfsTer30) NC_000005.10:132588053:TCAATCA:TCA p.(Asn340ArgfsTer30) NC_000005.10:132588056:ATCA: Analogous +NM_000175.5:c.286C>T NP_000166.2:p.Arg96Ter NC_000019.10:34368585:C:T p.(Arg96Ter) NC_000019.10:34368585:C:T p.(Arg96Ter) NC_000019.10:34368585:C:T Identity +NM_001849.4:c.111C>A NP_001840.3:p.Cys37Ter NC_000021.9:46111586:C:A p.(Cys37Ter) NC_000021.9:46111586:C:A p.(Cys37Ter) NC_000021.9:46111586:C:A Identity +NM_001039.4:c.1654G>A NP_001030.2:p.Val552Ile NC_000016.10:23215172:G:A p.(Val552Ile) NC_000016.10:23215172:G:A p.(Val552Ile) NC_000016.10:23215172:G:A Identity +LRG_1321t1:c.646C>G LRG_1321p1:p.Pro216Ala NC_000012.12:7089414:G:C ERR:Data provider error: ValueError: Transcript LRG_1321t1 not found ERR:Data provider error: ValueError: Transcript LRG_1321t1 not found ERR:AlignmentMapper(tx_ac=LRG_1321t1, alt_ac=LRG_1321t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1321t1, alt_ac=LRG_1321t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1321t1 not found +NM_001001890.3:c.250A>C NP_001001890.1:p.Thr84Pro NC_000021.9:34886862:T:G p.(Thr84Pro) NC_000021.9:34886862:T:G p.(Thr84Pro) NC_000021.9:34886862:T:G Identity +NM_001256850.1:c.64556G>A NP_001243779.1:p.Trp21519Ter NC_000002.12:178576764:C:T p.(Trp21519Ter) NC_000002.12:178576764:C:T p.(Trp21519Ter) NC_000002.12:178576764:C:T Identity +NM_000264.5:c.1480dup NP_000255.2:p.Ser494fs NC_000009.12:95477569:AAA:AAAA p.(Ser494PhefsTer3) NC_000009.12:95477569:AAA:AAAA p.(Ser494PhefsTer3) ERR:SPDI Analogous +NM_001382.4:c.271C>T NP_001373.2:p.Pro91Ser NC_000011.10:119101028:G:A p.(Pro91Ser) NC_000011.10:119101028:G:A p.(Pro91Ser) NC_000011.10:119101028:G:A Identity +NM_000747.3:c.883del NP_000738.2:p.Ala295fs NC_000017.11:7454357:GG:G p.(Ala295LeufsTer66) NC_000017.11:7454357:GG:G p.(Ala295LeufsTer66) NC_000017.11:7454358:G: Analogous +NM_000352.6:c.1617T>A NP_000343.2:p.Tyr539Ter NC_000011.10:17442732:A:T p.(Tyr539Ter) NC_000011.10:17442732:A:T p.(Tyr539Ter) NC_000011.10:17442732:A:T Identity +NM_001271885.2:c.178_179dup NP_001258814.1:p.Asn60fs NC_000015.10:67231842:TT:TTTT p.(Asn60LysfsTer7) NC_000015.10:67231842:TT:TTTT p.(Asn60LysfsTer7) ERR:SPDI Analogous +NM_006785.4:c.1356del NP_006776.1:p.Glu453fs NC_000018.10:58733525:AAAAA:AAAA p.(Glu453LysfsTer28) NC_000018.10:58733525:AAAAA:AAAA p.(Glu453LysfsTer28) NC_000018.10:58733529:A: Analogous +NM_001165963.4:c.2496G>A NP_001159435.1:p.Trp832Ter NC_000002.12:166039515:C:T p.(Trp832Ter) NC_000002.12:166039515:C:T p.(Trp832Ter) NC_000002.12:166039515:C:T Identity +NM_000044.6:c.2225G>T NP_000035.2:p.Trp742Leu NC_000023.11:67717528:G:T p.(Trp742Leu) NC_000023.11:67717528:G:T p.(Trp742Leu) NC_000023.11:67717528:G:T Identity +NM_000138.5:c.2764A>T NP_000129.3:p.Lys922Ter NC_000015.10:48492550:T:A p.(Lys922Ter) NC_000015.10:48492550:T:A p.(Lys922Ter) NC_000015.10:48492550:T:A Identity +NM_198586.3:c.799del NP_940988.2:p.Val267fs NC_000006.12:18121807:CCCC:CCC p.(Val267TrpfsTer28) NC_000006.12:18121807:CCCC:CCC p.(Val267TrpfsTer28) NC_000006.12:18121807:C: Analogous +NM_001294332.2:c.888_889del NP_001281261.1:p.Arg297fs NC_000005.10:233610:TCTC:TC p.(Arg297ValfsTer15) NC_000005.10:233610:TCTC:TC p.(Arg297ValfsTer15) NC_000005.10:233612:TC: Analogous +NM_000138.5:c.7382dup NP_000129.3:p.Asn2461fs NC_000015.10:48425439:TTTTT:TTTTTT p.(Asn2461LysfsTer27) NC_000015.10:48425439:TTTTT:TTTTTT p.(Asn2461LysfsTer27) ERR:SPDI Analogous +NM_000092.5:c.3319_3358del NP_000083.3:p.Leu1107fs NC_000002.12:227043115:GCCTTCCAGGTGATCCTCTGGGCCCTTGAATACCAGGCAAGCC:GCC p.(Leu1107GlnfsTer21) NC_000002.12:227043115:GCCTTCCAGGTGATCCTCTGGGCCCTTGAATACCAGGCAAGCC:GCC p.(Leu1107GlnfsTer21) NC_000002.12:227043115:GCCTTCCAGGTGATCCTCTGGGCCCTTGAATACCAGGCAA: Analogous +NM_001110792.2:c.215G>A NP_001104262.1:p.Gly72Asp NC_000023.11:154032404:C:T p.(Gly72Asp) NC_000023.11:154032404:C:T p.(Gly72Asp) NC_000023.11:154032404:C:T Identity +NM_001142800.2:c.8189dup NP_001136272.1:p.Asp2730fs NC_000006.12:63726562:T:TT p.(Asp2730GlufsTer17) NC_000006.12:63726562:T:TT p.(Asp2730GlufsTer17) ERR:SPDI Analogous +NM_001278055.2:c.11165T>A NP_001264984.1:p.Leu3722Ter NC_000013.11:23332269:A:T p.(Leu3722Ter) NC_000013.11:23332269:A:T p.(Leu3722Ter) NC_000013.11:23332269:A:T Identity +NM_017780.4:c.6641_6642del NP_060250.2:p.Val2214fs NC_000008.11:60853363:TGTG:TG p.(Val2214GlufsTer3) NC_000008.11:60853363:TGTG:TG p.(Val2214GlufsTer3) NC_000008.11:60853365:TG: Analogous +NM_001164716.1:c.895del NP_001158188.1:p.Arg299fs NC_000011.10:64753958:G: p.(Arg299AlafsTer37) NC_000011.10:64753958:G: p.(Arg299AlafsTer37) NC_000011.10:64753958:G: Analogous +NM_000286.3:c.174del NP_000277.1:p.Trp58fs NC_000017.11:35577543:CC:C p.(Trp58CysfsTer9) NC_000017.11:35577543:CC:C p.(Trp58CysfsTer9) NC_000017.11:35577543:C: Analogous +NM_000383.4:c.347del NP_000374.1:p.Pro116fs NC_000021.9:44287012:CCCCC:CCCC p.(Pro116ArgfsTer31) NC_000021.9:44287012:CCCCC:CCCC p.(Pro116ArgfsTer31) NC_000021.9:44287016:C: Analogous +NM_001142800.2:c.8858del NP_001136272.1:p.Ser2953fs NC_000006.12:63721172:G: p.(Ser2953TyrfsTer22) NC_000006.12:63721172:G: p.(Ser2953TyrfsTer22) NC_000006.12:63721172:G: Analogous +NM_000257.4:c.2630T>A NP_000248.2:p.Met877Lys NC_000014.9:23424817:A:T p.(Met877Lys) NC_000014.9:23424817:A:T p.(Met877Lys) NC_000014.9:23424817:A:T Identity +NM_000095.3:c.1190A>T NP_000086.2:p.Asp397Val NC_000019.10:18786595:T:A p.(Asp397Val) NC_000019.10:18786595:T:A p.(Asp397Val) NC_000019.10:18786595:T:A Identity +NM_001364440.2:c.1652dup NP_001351369.1:p.Phe552fs NC_000005.10:7895824:CCCC:CCCCC p.(Phe552ValfsTer8) NC_000005.10:7895824:CCCC:CCCCC p.(Phe552ValfsTer8) ERR:SPDI Analogous +NM_001271685.2:c.837dup NP_001258614.1:p.Gln280fs NC_000001.11:100015372:TTTTTT:TTTTTTT p.(Gln280SerfsTer4) NC_000001.11:100015372:TTTTTT:TTTTTTT p.(Gln280SerfsTer4) ERR:SPDI Analogous +NM_001458.5:c.2604del NP_001449.3:p.Ser868fs NC_000007.14:128843281:C: p.(Ser868ArgfsTer10) NC_000007.14:128843281:C: p.(Ser868ArgfsTer10) NC_000007.14:128843281:C: Analogous +NM_000445.5:c.12499C>T NP_000436.2:p.Arg4167Ter NC_000008.11:143917402:G:A p.(Arg4167Ter) NC_000008.11:143917402:G:A p.(Arg4167Ter) NC_000008.11:143917402:G:A Identity +NM_005677.4:c.361G>T NP_005668.2:p.Glu121Ter NC_000003.12:15479342:C:A p.(Glu121Ter) NC_000003.12:15479342:C:A p.(Glu121Ter) NC_000003.12:15479342:C:A Identity +NM_000249.4:c.2099del NP_000240.1:p.Gln700fs NC_000003.12:37049012:A: p.(Gln700ArgfsTer83) NC_000003.12:37049012:A: p.(Gln700ArgfsTer83) NC_000003.12:37049012:A: Analogous +NM_000833.5:c.812_813del NP_000824.1:p.Glu271fs NC_000016.10:9938152:CTCT:CT p.(Glu271ValfsTer12) NC_000016.10:9938152:CTCT:CT p.(Glu271ValfsTer12) NC_000016.10:9938152:CT: Analogous +NM_000214.3:c.3203del NP_000205.1:p.Phe1068fs NC_000020.11:10639951:AAA:AA p.(Phe1068SerfsTer6) NC_000020.11:10639951:AAA:AA p.(Phe1068SerfsTer6) NC_000020.11:10639951:A: Analogous +NM_001256850.1:c.96285G>A NP_001243779.1:p.Trp32095Ter NC_000002.12:178535406:C:T p.(Trp32095Ter) NC_000002.12:178535406:C:T p.(Trp32095Ter) NC_000002.12:178535406:C:T Identity +NM_000539.3:c.180C>G NP_000530.1:p.Tyr60Ter NC_000003.12:129528912:C:G p.(Tyr60Ter) NC_000003.12:129528912:C:G p.(Tyr60Ter) NC_000003.12:129528912:C:G Identity +NM_000384.3:c.6403del NP_000375.3:p.Val2135fs NC_000002.12:21010464:C: p.(Val2135PhefsTer8) NC_000002.12:21010464:C: p.(Val2135PhefsTer8) NC_000002.12:21010464:C: Analogous +NM_001369.3:c.1326C>G NP_001360.1:p.Tyr442Ter NC_000005.10:13913952:G:C p.(Tyr442Ter) NC_000005.10:13913952:G:C p.(Tyr442Ter) NC_000005.10:13913952:G:C Identity +NM_000444.6:c.1812del NP_000435.3:p.Thr605fs NC_000023.11:22221655:T: p.(Thr605LeufsTer14) NC_000023.11:22221655:T: p.(Thr605LeufsTer14) NC_000023.11:22221655:T: Analogous +NM_000251.3:c.2532_2533delinsCT NP_000242.1:p.Lys845Ter NC_000002.12:47480768:TA:CT p.(Lys845Ter) NC_000002.12:47480768:TA:CT p.(Lys845Ter) NC_000002.12:47480768:TA:CT Identity +NM_000088.4:c.2678G>C NP_000079.2:p.Gly893Ala NC_000017.11:50189527:C:G p.(Gly893Ala) NC_000017.11:50189527:C:G p.(Gly893Ala) NC_000017.11:50189527:C:G Identity +NM_000051.4:c.2626C>T NP_000042.3:p.Gln876Ter NC_000011.10:108267329:C:T p.(Gln876Ter) NC_000011.10:108267329:C:T p.(Gln876Ter) NC_000011.10:108267329:C:T Identity +NM_001362949.2:c.620_621del NP_001349878.1:p.Glu207fs NC_000022.11:33565013:TT: p.(Glu207GlyfsTer7) NC_000022.11:33565013:TT: p.(Glu207GlyfsTer7) NC_000022.11:33565013:TT: Analogous +NM_000038.6:c.845del NP_000029.2:p.Thr282fs NC_000005.10:112815504:C: p.(Thr282AsnfsTer11) NC_000005.10:112815504:C: p.(Thr282AsnfsTer11) NC_000005.10:112815504:C: Analogous +NM_000546.6:c.119dup NP_000537.3:p.Met40fs NC_000017.11:7676249:A:AA p.(Met40IlefsTer3) NC_000017.11:7676249:A:AA p.(Met40IlefsTer3) ERR:SPDI Analogous +NM_000368.5:c.398dup NP_000359.1:p.Val135fs NC_000009.12:132923457:A:AA p.(Val135GlyfsTer19) NC_000009.12:132923457:A:AA p.(Val135GlyfsTer19) ERR:SPDI Analogous +NM_001037343.2:c.1927C>T NP_001032420.1:p.Gln643Ter NC_000023.11:18604850:C:T p.(Gln643Ter) NC_000023.11:18604850:C:T p.(Gln643Ter) NC_000023.11:18604850:C:T Identity +NM_006493.4:c.827_828del NP_006484.2:p.Phe276fs NC_000013.11:77000715:TTTTT:TTT p.(Phe276TrpfsTer26) NC_000013.11:77000715:TTTTT:TTT p.(Phe276TrpfsTer26) NC_000013.11:77000718:TT: Analogous +NM_000101.4:c.111C>G NP_000092.2:p.Tyr37Ter NC_000016.10:88648061:G:C p.(Tyr37Ter) NC_000016.10:88648061:G:C p.(Tyr37Ter) NC_000016.10:88648061:G:C Identity +NM_001145472.3:c.2431A>T NP_001138944.1:p.Lys811Ter NC_000018.10:46505951:T:A p.(Lys811Ter) NC_000018.10:46505951:T:A p.(Lys811Ter) NC_000018.10:46505951:T:A Identity +NM_000089.4:c.1045G>A NP_000080.2:p.Gly349Ser NC_000007.14:94410250:G:A p.(Gly349Ser) NC_000007.14:94410250:G:A p.(Gly349Ser) NC_000007.14:94410250:G:A Identity +NM_001042399.2:c.2007del NP_001035858.1:p.Glu669fs NC_000012.12:94308911:TT:T p.(Glu669AspfsTer14) NC_000012.12:94308911:TT:T p.(Glu669AspfsTer14) NC_000012.12:94308911:T: Analogous +NM_003742.4:c.1429G>T NP_003733.2:p.Gly477Ter NC_000002.12:168973719:C:A p.(Gly477Ter) NC_000002.12:168973719:C:A p.(Gly477Ter) NC_000002.12:168973719:C:A Identity +NM_025114.4:c.6624del NP_079390.3:p.Arg2208fs NC_000012.12:88059918:CC:C p.(Arg2208SerfsTer18) NC_000012.12:88059918:CC:C p.(Arg2208SerfsTer18) NC_000012.12:88059918:C: Analogous +NM_000350.3:c.1749_1750del NP_000341.2:p.Lys583fs NC_000001.11:94063121:TCT:T p.(Lys583AsnfsTer2) NC_000001.11:94063121:TCT:T p.(Lys583AsnfsTer2) NC_000001.11:94063121:TC: Analogous +NM_001257374.3:c.814G>A NP_001244303.1:p.Glu272Lys NC_000001.11:156136113:G:A p.(Glu272Lys) NC_000001.11:156136113:G:A p.(Glu272Lys) NC_000001.11:156136113:G:A Identity +NM_001127487.2:c.1670del NP_001120959.1:p.Pro557fs NC_000007.14:128840665:CCC:CC p.(Pro557LeufsTer9) NC_000007.14:128840665:CCC:CC p.(Pro557LeufsTer9) NC_000007.14:128840667:C: Analogous +NM_000059.4:c.6284C>A NP_000050.3:p.Ser2095Ter NC_000013.11:32340638:C:A p.(Ser2095Ter) NC_000013.11:32340638:C:A p.(Ser2095Ter) NC_000013.11:32340638:C:A Identity +NM_020461.4:c.3784_3802del NP_065194.3:p.Thr1262fs NC_000022.11:50220556:TGTTCCACCGTGGCCGGGT: p.(Thr1262ProfsTer56) NC_000022.11:50220556:TGTTCCACCGTGGCCGGGT: p.(Thr1262ProfsTer56) NC_000022.11:50220556:TGTTCCACCGTGGCCGGGT: Analogous +NM_001032221.6:c.1641_1642insC NP_001027392.1:p.Asn548fs NC_000009.12:127682499::C p.(Asn548GlnfsTer2) NC_000009.12:127682498:G:C p.(Asn548GlnfsTer2) NC_000009.12:127682499:GA:C Analogous +NM_017780.4:c.1871del NP_060250.2:p.Val624fs NC_000008.11:60781204:T: p.(Val624GlufsTer6) NC_000008.11:60781204:T: p.(Val624GlufsTer6) NC_000008.11:60781204:T: Analogous +NM_006623.4:c.1063C>T NP_006614.2:p.Gln355Ter NC_000001.11:119740502:C:T p.(Gln355Ter) NC_000001.11:119740502:C:T p.(Gln355Ter) NC_000001.11:119740502:C:T Identity +NM_032119.4:c.1086dup NP_115495.3:p.Leu363fs NC_000005.10:90627623:A:AA p.(Leu363ThrfsTer22) NC_000005.10:90627623:A:AA p.(Leu363ThrfsTer22) ERR:SPDI Analogous +NM_000138.5:c.6769_6773del NP_000129.3:p.Asp2257fs NC_000015.10:48430768:CAGTC: p.(Asp2257TyrfsTer2) NC_000015.10:48430768:CAGTC: p.(Asp2257TyrfsTer2) NC_000015.10:48430768:CAGTC: Analogous +NM_000136.3:c.1199del NP_000127.2:p.Phe400fs NC_000009.12:95111592:AA:A p.(Phe400SerfsTer13) NC_000009.12:95111592:AA:A p.(Phe400SerfsTer13) NC_000009.12:95111592:A: Analogous +NM_001289156.2:c.884dup NP_001276085.1:p.Thr296fs NC_000015.10:74897198:TT:TTT p.(Thr296HisfsTer13) NC_000015.10:74897198:TT:TTT p.(Thr296HisfsTer13) ERR:SPDI Analogous +NM_000086.2:c.43G>T NP_000077.1:p.Glu15Ter NC_000016.10:28491716:C:A p.(Glu15Ter) NC_000016.10:28491716:C:A p.(Glu15Ter) NC_000016.10:28491716:C:A Identity +NM_000187.4:c.1288del NP_000178.2:p.Leu430fs NC_000003.12:120628429:G: p.(Leu430SerfsTer24) NC_000003.12:120628429:G: p.(Leu430SerfsTer24) NC_000003.12:120628429:G: Analogous +NM_000532.5:c.1146T>A NP_000523.2:p.Asp382Glu NC_000003.12:136326857:T:A p.(Asp382Glu) NC_000003.12:136326857:T:A p.(Asp382Glu) NC_000003.12:136326857:T:A Identity +NM_000138.5:c.5371T>G NP_000129.3:p.Cys1791Gly NC_000015.10:48456687:A:C p.(Cys1791Gly) NC_000015.10:48456687:A:C p.(Cys1791Gly) NC_000015.10:48456687:A:C Identity +NM_000548.5:c.2687_2690dup NP_000539.2:p.Phe897fs NC_000016.10:2076113:TGGTT:TGGTTGGTT p.(Phe897LeufsTer19) NC_000016.10:2076113:TGGTT:TGGTTGGTT p.(Phe897LeufsTer19) ERR:SPDI Analogous +NM_000249.4:c.2123_2126del NP_000240.1:p.Ile708fs NC_000003.12:37050504:TTCC: p.(Ile708LysfsTer74) NC_000003.12:37050504:TTCC: p.(Ile708LysfsTer74) NC_000003.12:37050504:TTCC: Analogous +NM_000179.3:c.945dup NP_000170.1:p.Arg316Ter NC_000002.12:47798927:T:TT p.(Arg316Ter) NC_000002.12:47798927:T:TT p.(Arg316Ter) ERR:SPDI Identity +NM_015102.5:c.1082_1083dup NP_055917.1:p.Tyr362fs NC_000001.11:5947139:CTC:CTCTC p.(Tyr362SerfsTer45) NC_000001.11:5947139:CTC:CTCTC p.(Tyr362SerfsTer45) ERR:SPDI Analogous +NM_004656.4:c.436dup NP_004647.1:p.Arg146fs NC_000003.12:52407399:T:TT p.(Arg146LysfsTer9) NC_000003.12:52407399:T:TT p.(Arg146LysfsTer9) ERR:SPDI Analogous +NM_014028.4:c.442del NP_054747.2:p.Met148fs NC_000006.12:108064259:TT:T p.(Met148TrpfsTer7) NC_000006.12:108064259:TT:T p.(Met148TrpfsTer7) NC_000006.12:108064259:T: Analogous +NM_003907.3:c.1487del NP_003898.2:p.Leu496fs NC_000003.12:184142543:T: p.(Leu496ProfsTer7) NC_000003.12:184142543:T: p.(Leu496ProfsTer7) NC_000003.12:184142543:T: Analogous +NM_000532.5:c.105dup NP_000523.2:p.Asn36Ter NC_000003.12:136250478:TT:TTT p.(Asn36Ter) NC_000003.12:136250478:TT:TTT p.(Asn36Ter) ERR:SPDI Identity +NM_001353229.2:c.1049dup NP_001340158.1:p.Ser351fs NC_000017.11:17219085:A:AA p.(Ser351LeufsTer57) NC_000017.11:17219085:A:AA p.(Ser351LeufsTer57) ERR:SPDI Analogous +NM_001008844.3:c.1186del NP_001008844.1:p.Gln396fs NC_000006.12:7567824:CC:C p.(Gln396ArgfsTer44) NC_000006.12:7567824:CC:C p.(Gln396ArgfsTer44) NC_000006.12:7567825:C: Analogous +NM_001204.7:c.610A>T NP_001195.2:p.Lys204Ter NC_000002.12:202514967:A:T p.(Lys204Ter) NC_000002.12:202514967:A:T p.(Lys204Ter) NC_000002.12:202514967:A:T Identity +NM_000051.4:c.4555del NP_000042.3:p.Val1519fs NC_000011.10:108292736:G: p.(Val1519LeufsTer24) NC_000011.10:108292736:G: p.(Val1519LeufsTer24) NC_000011.10:108292736:G: Analogous +NM_000244.4:c.846del NP_000235.3:p.Met283fs NC_000011.10:64807091:GGGG:GGG p.(Met283TrpfsTer3) NC_000011.10:64807091:GGGG:GGG p.(Met283TrpfsTer3) NC_000011.10:64807091:G: Analogous +NM_001161529.2:c.140dup NP_001155001.1:p.Leu47fs NC_000024.10:1285838:TTT:TTTT p.(Leu47PhefsTer18) NC_000023.11:1285838:TTT:TTTT p.(Leu47PhefsTer18) ERR:CDS is undefined for NM_001161529.2; this accession appears to be for a non-coding transcript Analogous +NM_001308258.2:c.1904dup NP_001295187.1:p.Lys636fs NC_000003.12:149162791:TTTTT:TTTTTT p.(Lys636GlnfsTer12) NC_000003.12:149162791:TTTTT:TTTTTT p.(Lys636GlnfsTer12) ERR:SPDI Analogous +NM_001193640.2:c.2382G>A NP_001180569.1:p.Trp794Ter NC_000001.11:197429489:G:A p.(Trp794Ter) NC_000001.11:197429489:G:A p.(Trp794Ter) NC_000001.11:197429489:G:A Identity +NM_000302.4:c.367C>T NP_000293.2:p.Gln123Ter NC_000001.11:11950420:C:T p.(Gln123Ter) NC_000001.11:11950420:C:T p.(Gln123Ter) NC_000001.11:11950420:C:T Identity +NM_001282625.2:c.275T>C NP_001269554.1:p.Leu92Pro NC_000001.11:156115192:T:C p.(Leu92Pro) NC_000001.11:156115192:T:C p.(Leu92Pro) NC_000001.11:156115192:T:C Identity +NM_001127214.4:c.238C>T NP_001120686.1:p.Gln80Ter NC_000016.10:89100918:C:T p.(Gln80Ter) NC_000016.10:89100918:C:T p.(Gln80Ter) NC_000016.10:89100918:C:T Identity +NM_000548.5:c.3316A>T NP_000539.2:p.Lys1106Ter NC_000016.10:2079587:A:T p.(Lys1106Ter) NC_000016.10:2079587:A:T p.(Lys1106Ter) NC_000016.10:2079587:A:T Identity +NM_000109.4:c.9391A>T NP_000100.3:p.Lys3131Ter NC_000023.11:31209645:T:A p.(Lys3131Ter) NC_000023.11:31209645:T:A p.(Lys3131Ter) NC_000023.11:31209645:T:A Identity +NM_001018837.2:c.205G>T NP_001018238.1:p.Glu69Ter NC_000001.11:154273805:G:T p.(Glu69Ter) NC_000001.11:154273805:G:T p.(Glu69Ter) NC_000001.11:154273805:G:T Identity +NM_025099.6:c.1753C>T NP_079375.3:p.Gln585Ter NC_000017.11:8234519:G:A p.(Gln585Ter) NC_000017.11:8234519:G:A p.(Gln585Ter) NC_000017.11:8234519:G:A Identity +NM_001350248.2:c.880G>T NP_001337177.1:p.Glu294Ter NC_000001.11:243308031:G:T p.(Glu294Ter) NC_000001.11:243308031:G:T p.(Glu294Ter) NC_000001.11:243308031:G:T Identity +NM_015378.4:c.229_232dup NP_056193.2:p.Trp78fs NC_000001.11:12244298:CCTT:CCTTCCTT p.(Trp78SerfsTer23) NC_000001.11:12244298:CCTT:CCTTCCTT p.(Trp78SerfsTer23) ERR:SPDI Analogous +NM_005340.7:c.283C>T NP_005331.1:p.Arg95Ter NC_000005.10:131159544:G:A p.(Arg95Ter) NC_000005.10:131159544:G:A p.(Arg95Ter) NC_000005.10:131159544:G:A Identity +NM_000264.5:c.2382del NP_000255.2:p.Gln794fs NC_000009.12:95467293:TT:T p.(Gln794HisfsTer12) NC_000009.12:95467293:TT:T p.(Gln794HisfsTer12) NC_000009.12:95467293:T: Analogous +NM_000179.3:c.3531_3538del NP_000170.1:p.Gly1178fs NC_000002.12:47804999:CTTGGTGCCT:CT p.(Gly1178ArgfsTer7) NC_000002.12:47804999:CTTGGTGCCT:CT p.(Gly1178ArgfsTer7) NC_000002.12:47805001:TGGTGCCT: Analogous +NM_001160227.2:c.6716_6719dup NP_001153699.1:p.Gln2241fs NC_000015.10:44564639:TGGT:TGGTTGGT p.(Gln2241ProfsTer6) NC_000015.10:44564639:TGGT:TGGTTGGT p.(Gln2241ProfsTer6) ERR:SPDI Analogous +NM_001382708.1:c.309del NP_001369637.1:p.Thr104fs NC_000002.12:219418769:CC:C p.(Thr104ArgfsTer37) NC_000002.12:219418769:CC:C p.(Thr104ArgfsTer37) NC_000002.12:219418770:C: Analogous +NM_000444.6:c.1818_1821dup NP_000435.3:p.Glu608fs NC_000023.11:22221660:AATCA:AATCAATCA p.(Glu608IlefsTer6) NC_000023.11:22221660:AATCA:AATCAATCA p.(Glu608IlefsTer6) ERR:SPDI Analogous +NM_000109.4:c.1672G>T NP_000100.3:p.Glu558Ter NC_000023.11:32573752:C:A p.(Glu558Ter) NC_000023.11:32573752:C:A p.(Glu558Ter) NC_000023.11:32573752:C:A Identity +NM_001024688.3:c.274_275insT NP_001019859.1:p.Pro92fs NC_000008.11:89978283::A p.(Pro92LeufsTer6) NC_000008.11:89978282:G:A p.(Pro92LeufsTer6) NC_000008.11:89978283:GG:A Analogous +NM_000329.3:c.886dup NP_000320.1:p.Arg296fs NC_000001.11:68439053:TTTTTTT:TTTTTTTT p.(Arg296LysfsTer7) NC_000001.11:68439053:TTTTTTT:TTTTTTTT p.(Arg296LysfsTer7) ERR:SPDI Analogous +NM_000059.4:c.7956_7959dup NP_000050.3:p.Leu2654fs NC_000013.11:32362671:TGCTT:TGCTTGCTT p.(Leu2654AlafsTer9) NC_000013.11:32362671:TGCTT:TGCTTGCTT p.(Leu2654AlafsTer9) ERR:SPDI Analogous +NM_000180.4:c.484dup NP_000171.1:p.Ala162fs NC_000017.11:8003529:GG:GGG p.(Ala162GlyfsTer157) NC_000017.11:8003529:GG:GGG p.(Ala162GlyfsTer157) ERR:SPDI Analogous +NM_130810.4:c.10C>T NP_570722.2:p.Gln4Ter NC_000015.10:55498319:G:A p.(Gln4Ter) NC_000015.10:55498319:G:A p.(Gln4Ter) NC_000015.10:55498319:G:A Identity +NM_000159.4:c.1157G>A NP_000150.1:p.Arg386Gln NC_000019.10:12897776:G:A p.(Arg386Gln) NC_000019.10:12897776:G:A p.(Arg386Gln) NC_000019.10:12897776:G:A Identity +NM_000170.3:c.2470A>T NP_000161.2:p.Lys824Ter NC_000009.12:6550901:T:A p.(Lys824Ter) NC_000009.12:6550901:T:A p.(Lys824Ter) NC_000009.12:6550901:T:A Identity +NM_000287.4:c.1681del NP_000278.3:p.Leu561fs NC_000006.12:42968296:GGGGG:GGGG p.(Leu561SerfsTer58) NC_000006.12:42968296:GGGGG:GGGG p.(Leu561SerfsTer58) NC_000006.12:42968296:G: Analogous +NM_001286414.3:c.1618C>T NP_001273343.1:p.Gln540Ter NC_000015.10:43401733:C:T p.(Gln540Ter) NC_000015.10:43401733:C:T p.(Gln540Ter) NC_000015.10:43401733:C:T Identity +NM_032520.5:c.514del NP_115909.1:p.His172fs NC_000016.10:1362303:CCCCC:CCCC p.(His172ThrfsTer4) NC_000016.10:1362303:CCCCC:CCCC p.(His172ThrfsTer4) NC_000016.10:1362307:C: Analogous +NM_138694.4:c.8863C>T NP_619639.3:p.Arg2955Ter NC_000006.12:51753287:G:A p.(Arg2955Ter) NC_000006.12:51753287:G:A p.(Arg2955Ter) NC_000006.12:51753287:G:A Identity +NM_001079802.2:c.585dup NP_001073270.1:p.Asp196Ter NC_000009.12:105604428:TT:TTT p.(Asp196Ter) NC_000009.12:105604428:TT:TTT p.(Asp196Ter) ERR:SPDI Identity +NM_017780.4:c.2196dup NP_060250.2:p.Pro733fs NC_000008.11:60795084:A:AA p.(Pro733ThrfsTer6) NC_000008.11:60795084:A:AA p.(Pro733ThrfsTer6) ERR:SPDI Analogous +NM_000109.4:c.7425del NP_000100.3:p.Asp2476fs NC_000023.11:31774052:GG:G p.(Asp2476ThrfsTer10) NC_000023.11:31774052:GG:G p.(Asp2476ThrfsTer10) NC_000023.11:31774052:G: Analogous +NM_001127487.2:c.7651_7670dup NP_001120959.1:p.Lys2558fs NC_000007.14:128857304:CGTGGGCAGCCCCTTCAAGGC:CGTGGGCAGCCCCTTCAAGGCGTGGGCAGCCCCTTCAAGGC p.(Lys2558TrpfsTer31) NC_000007.14:128857304:CGTGGGCAGCCCCTTCAAGGC:CGTGGGCAGCCCCTTCAAGGCGTGGGCAGCCCCTTCAAGGC p.(Lys2558TrpfsTer31) ERR:SPDI Analogous +NM_001256714.1:c.802_815del NP_001243643.1:p.Ser268fs NC_000019.10:55161694:GCGTCGTAGCGGGAGC:GC p.(Ser268ProfsTer15) NC_000019.10:55161694:GCGTCGTAGCGGGAGC:GC p.(Ser268ProfsTer15) NC_000019.10:55161694:GCGTCGTAGCGGGA: Analogous +NM_001286130.2:c.2633_2640del NP_001273059.1:p.Gly878fs NC_000016.10:57903957:GGCGGCCC: p.(Gly878AspfsTer47) NC_000016.10:57903957:GGCGGCCC: p.(Gly878AspfsTer47) NC_000016.10:57903957:GGCGGCCC: Analogous +NM_005359.6:c.779dup NP_005350.1:p.Tyr260Ter NC_000018.10:51058235:A:AA p.(Tyr260Ter) NC_000018.10:51058235:A:AA p.(Tyr260Ter) ERR:SPDI Identity +NM_001171933.1:c.2447del NP_001165404.1:p.Val816fs NC_000010.11:71811403:T: p.(Val816AlafsTer31) NC_000010.11:71811403:T: p.(Val816AlafsTer31) NC_000010.11:71811403:T: Analogous +NM_001039958.2:c.72G>A NP_001035047.1:p.Trp24Ter NC_000015.10:89776428:G:A p.(Trp24Ter) NC_000015.10:89776428:G:A p.(Trp24Ter) NC_000015.10:89776428:G:A Identity +NM_000349.3:c.784del NP_000340.2:p.Gln262fs NC_000008.11:38144346:GGG:GG p.(Gln262ArgfsTer59) NC_000008.11:38144346:GGG:GG p.(Gln262ArgfsTer59) NC_000008.11:38144346:G: Analogous +NM_001079878.2:c.430del NP_001073347.1:p.Asp144fs NC_000002.12:98389690:GG:G p.(Asp144ThrfsTer11) NC_000002.12:98389690:GG:G p.(Asp144ThrfsTer11) NC_000002.12:98389691:G: Analogous +NM_000528.4:c.2748_2751del NP_000519.2:p.Leu917fs NC_000019.10:12647511:CAAGC:C p.(Leu917SerfsTer6) NC_000019.10:12647511:CAAGC:C p.(Leu917SerfsTer6) NC_000019.10:12647511:CAAG: Analogous +NM_000093.5:c.4282del NP_000084.3:p.Gln1428fs NC_000009.12:134818702:CCCCC:CCCC p.(Gln1428ArgfsTer60) NC_000009.12:134818702:CCCCC:CCCC p.(Gln1428ArgfsTer60) NC_000009.12:134818706:C: Analogous +NM_000202.8:c.361C>T NP_000193.1:p.Gln121Ter NC_000023.11:149503368:G:A p.(Gln121Ter) NC_000023.11:149503368:G:A p.(Gln121Ter) NC_000023.11:149503368:G:A Identity +NM_001040142.2:c.718del NP_001035232.1:p.Ala240fs NC_000002.12:165310338:GGGGG:GGGG p.(Ala240ProfsTer2) NC_000002.12:165310338:GGGGG:GGGG p.(Ala240ProfsTer2) NC_000002.12:165310342:G: Analogous +NM_002900.3:c.3320del NP_002891.1:p.Leu1107fs NC_000010.11:47355449:T: p.(Leu1107ArgfsTer23) NC_000010.11:47355449:T: p.(Leu1107ArgfsTer23) NC_000010.11:47355449:T: Analogous +NM_002439.5:c.1428T>A NP_002430.3:p.Tyr476Ter NC_000005.10:80725539:T:A p.(Tyr476Ter) NC_000005.10:80725539:T:A p.(Tyr476Ter) NC_000005.10:80725539:T:A Identity +NM_000051.4:c.769G>T NP_000042.3:p.Glu257Ter NC_000011.10:108244893:G:T p.(Glu257Ter) NC_000011.10:108244893:G:T p.(Glu257Ter) NC_000011.10:108244893:G:T Identity +NM_001099679.2:c.1185dup NP_001093149.1:p.Gln396fs NC_000009.12:116698926:A:AA p.(Gln396ThrfsTer20) NC_000009.12:116698926:A:AA p.(Gln396ThrfsTer20) ERR:SPDI Analogous +NM_000702.4:c.2501G>A NP_000693.1:p.Arg834Gln NC_000001.11:160136307:G:A p.(Arg834Gln) NC_000001.11:160136307:G:A p.(Arg834Gln) NC_000001.11:160136307:G:A Identity +NM_000278.5:c.250G>A NP_000269.3:p.Gly84Ser NC_000010.11:100750730:G:A p.(Gly84Ser) NC_000010.11:100750730:G:A p.(Gly84Ser) NC_000010.11:100750730:G:A Identity +NM_001039476.3:c.637C>T NP_001034565.1:p.Gln213Ter NC_000016.10:89889:G:A p.(Gln213Ter) NC_000016.10:89889:G:A p.(Gln213Ter) NC_000016.10:89889:G:A Identity +NM_001042494.2:c.599del NP_001035959.1:p.Ala200fs NC_000015.10:34255361:G: p.(Ala200AspfsTer57) NC_000015.10:34255361:G: p.(Ala200AspfsTer57) NC_000015.10:34255361:G: Analogous +NM_001278055.2:c.573dup NP_001264984.1:p.Lys192Ter NC_000013.11:23355597:A:AA p.(Lys192Ter) NC_000013.11:23355597:A:AA p.(Lys192Ter) ERR:SPDI Identity +NM_014244.5:c.137del NP_055059.2:p.Pro46fs NC_000005.10:179345191:GGGGGG:GGGGG p.(Pro46GlnfsTer119) NC_000005.10:179345191:GGGGGG:GGGGG p.(Pro46GlnfsTer119) NC_000005.10:179345191:G: Analogous +NM_000143.4:c.688A>C NP_000134.2:p.Lys230Gln NC_000001.11:241508652:T:G p.(Lys230Gln) NC_000001.11:241508652:T:G p.(Lys230Gln) NC_000001.11:241508652:T:G Identity +NM_000264.5:c.431_438del NP_000255.2:p.Arg144fs NC_000009.12:95485830:CTTCTGGC: p.(Arg144HisfsTer8) NC_000009.12:95485830:CTTCTGGC: p.(Arg144HisfsTer8) NC_000009.12:95485830:CTTCTGGC: Analogous +NM_001167749.3:c.1366G>T NP_001161221.1:p.Glu456Ter NC_000001.11:167859877:C:A p.(Glu456Ter) NC_000001.11:167859877:C:A p.(Glu456Ter) NC_000001.11:167859877:C:A Identity +NM_001040142.2:c.4533dup NP_001035232.1:p.Pro1512fs NC_000002.12:165381174:AAAAA:AAAAAA p.(Pro1512ThrfsTer7) NC_000002.12:165381174:AAAAA:AAAAAA p.(Pro1512ThrfsTer7) ERR:SPDI Analogous +NM_001110556.2:c.5146del NP_001104026.1:p.Gln1716fs NC_000023.11:154354895:GGGGGG:GGGGG p.(Gln1716SerfsTer23) NC_000023.11:154354895:GGGGGG:GGGGG p.(Gln1716SerfsTer23) NC_000023.11:154354895:G: Analogous +NM_000246.4:c.2014C>T NP_000237.2:p.Gln672Ter NC_000016.10:10907505:C:T p.(Gln672Ter) NC_000016.10:10907505:C:T p.(Gln672Ter) NC_000016.10:10907505:C:T Identity +NM_000053.4:c.92dup NP_000044.2:p.Ala32fs NC_000013.11:51975127:GG:GGG p.(Ala32SerfsTer9) NC_000013.11:51975127:GG:GGG p.(Ala32SerfsTer9) ERR:SPDI Analogous +NM_001174063.2:c.979_983del NP_001167534.1:p.His327fs NC_000008.11:38421894:AAGTGAAG:AAG p.(His327LysfsTer6) NC_000008.11:38421894:AAGTGAAG:AAG p.(His327LysfsTer6) NC_000008.11:38421894:AAGTG: Analogous +NM_000444.6:c.1309G>T NP_000435.3:p.Glu437Ter NC_000023.11:22133528:G:T p.(Glu437Ter) NC_000023.11:22133528:G:T p.(Glu437Ter) NC_000023.11:22133528:G:T Identity +NM_001007188.4:c.176dup NP_001007189.1:p.Glu60fs NC_000022.11:31760683:AA:AAA p.(Glu60GlyfsTer29) NC_000022.11:31760683:AA:AAA p.(Glu60GlyfsTer29) ERR:SPDI Analogous +NM_000059.4:c.1228A>T NP_000050.3:p.Lys410Ter NC_000013.11:32332705:A:T p.(Lys410Ter) NC_000013.11:32332705:A:T p.(Lys410Ter) NC_000013.11:32332705:A:T Identity +NM_138694.4:c.424del NP_619639.3:p.Val142fs NC_000006.12:52076299:C: p.(Val142PhefsTer11) NC_000006.12:52076299:C: p.(Val142PhefsTer11) NC_000006.12:52076299:C: Analogous +NM_000264.5:c.2582del NP_000255.2:p.Ser861fs NC_000009.12:95461976:C: p.(Ser861MetfsTer42) NC_000009.12:95461976:C: p.(Ser861MetfsTer42) NC_000009.12:95461976:C: Analogous +NM_000059.4:c.1156G>T NP_000050.3:p.Glu386Ter NC_000013.11:32332633:G:T p.(Glu386Ter) NC_000013.11:32332633:G:T p.(Glu386Ter) NC_000013.11:32332633:G:T Identity +NM_000370.3:c.178dup NP_000361.1:p.Asp60fs NC_000008.11:63085843:CCC:CCCC p.(Asp60GlyfsTer16) NC_000008.11:63085843:CCC:CCCC p.(Asp60GlyfsTer16) ERR:SPDI Analogous +NM_000166.6:c.2T>C NP_000157.1:p.Met1Thr NC_000023.11:71223708:T:C p.(Met1Thr) NC_000023.11:71223708:T:C p.Met1? NC_000023.11:71223708:T:C Identity +NM_000051.4:c.3203_3204del NP_000042.3:p.Phe1068fs NC_000011.10:108272769:TTT:T p.(Phe1068SerfsTer4) NC_000011.10:108272769:TTT:T p.(Phe1068SerfsTer4) NC_000011.10:108272770:TT: Analogous +NM_001256317.3:c.398G>A NP_001243246.1:p.Trp133Ter NC_000021.9:42388450:C:T p.(Trp133Ter) NC_000021.9:42388450:C:T p.(Trp133Ter) NC_000021.9:42388450:C:T Identity +NM_024675.4:c.880A>T NP_078951.2:p.Lys294Ter NC_000016.10:23635665:T:A p.(Lys294Ter) NC_000016.10:23635665:T:A p.(Lys294Ter) NC_000016.10:23635665:T:A Identity +NM_000404.4:c.1699C>T NP_000395.3:p.Gln567Ter NC_000003.12:33014090:G:A p.(Gln567Ter) NC_000003.12:33014090:G:A p.(Gln567Ter) NC_000003.12:33014090:G:A Identity +NM_000264.5:c.2172dup NP_000255.2:p.Pro725fs NC_000009.12:95468828:C:CC p.(Pro725AlafsTer13) NC_000009.12:95468828:C:CC p.(Pro725AlafsTer13) ERR:SPDI Analogous +NM_001003722.2:c.357_364del NP_001003722.1:p.Gln121fs NC_000009.12:128515561:GTACTTCAGT:GT p.(Gln121ThrfsTer44) NC_000009.12:128515561:GTACTTCAGT:GT p.(Gln121ThrfsTer44) NC_000009.12:128515563:ACTTCAGT: Analogous +NM_000059.4:c.240dup NP_000050.3:p.Phe81fs NC_000013.11:32319248:A:AA p.(Phe81IlefsTer20) NC_000013.11:32319248:A:AA p.(Phe81IlefsTer20) ERR:SPDI Analogous +NM_000401.3:c.163_167del NP_000392.3:p.His55fs NC_000011.10:44107774:GCACCG:G p.(His55AsnfsTer32) NC_000011.10:44107774:GCACCG:G p.(His55AsnfsTer32) NC_000011.10:44107775:CACCG: Analogous +NM_032520.5:c.717del NP_115909.1:p.Phe239fs NC_000016.10:1362715:TTT:TT p.(Phe239LeufsTer21) NC_000016.10:1362715:TTT:TT p.(Phe239LeufsTer21) NC_000016.10:1362717:T: Analogous +NM_001184.4:c.529C>T NP_001175.2:p.Arg177Ter NC_000003.12:142562872:G:A p.(Arg177Ter) NC_000003.12:142562872:G:A p.(Arg177Ter) NC_000003.12:142562872:G:A Identity +NM_000238.4:c.817C>T NP_000229.1:p.Arg273Ter NC_000007.14:150958157:G:A p.(Arg273Ter) NC_000007.14:150958157:G:A p.(Arg273Ter) NC_000007.14:150958157:G:A Identity +NM_000553.6:c.2551G>T NP_000544.2:p.Glu851Ter NC_000008.11:31120344:G:T p.(Glu851Ter) NC_000008.11:31120344:G:T p.(Glu851Ter) NC_000008.11:31120344:G:T Identity +NM_001136029.4:c.2462del NP_001129501.1:p.Leu821fs NC_000022.11:31838818:T: p.(Leu821ArgfsTer25) NC_000022.11:31838818:T: p.(Leu821ArgfsTer25) NC_000022.11:31838818:T: Analogous +NM_000138.5:c.368G>C NP_000129.3:p.Cys123Ser NC_000015.10:48600212:C:G p.(Cys123Ser) NC_000015.10:48600212:C:G p.(Cys123Ser) NC_000015.10:48600212:C:G Identity +NM_001369.3:c.1351_1355del NP_001360.1:p.Gln451fs NC_000005.10:13913923:TTTTGTTTTGT:TTTTGT p.(Gln451AlafsTer2) NC_000005.10:13913923:TTTTGTTTTGT:TTTTGT p.(Gln451AlafsTer2) NC_000005.10:13913923:TTTTG: Analogous +NM_025114.4:c.167dup NP_079390.3:p.Ser57fs NC_000012.12:88140968:T:TT p.(Ser57ValfsTer28) NC_000012.12:88140968:T:TT p.(Ser57ValfsTer28) ERR:SPDI Analogous +NM_000390.4:c.1532del NP_000381.1:p.Thr511fs NC_000023.11:85879041:G: p.(Thr511AsnfsTer10) NC_000023.11:85879041:G: p.(Thr511AsnfsTer10) NC_000023.11:85879041:G: Analogous +NM_001378454.1:c.11849del NP_001365383.1:p.Lys3950fs NC_000002.12:73600852:AAAAAA:AAAAA p.(Lys3950ArgfsTer42) NC_000002.12:73600852:AAAAAA:AAAAA p.(Lys3950ArgfsTer42) NC_000002.12:73600857:A: Analogous +NM_020451.3:c.1086dup NP_065184.2:p.Pro363fs NC_000001.11:25811528:A:AA p.(Pro363ThrfsTer19) NC_000001.11:25811528:A:AA p.? ERR:SPDI Analogous +NM_001365999.1:c.8869C>T NP_001352928.1:p.Arg2957Ter NC_000001.11:43445936:C:T p.(Arg2957Ter) NC_000001.11:43445936:C:T p.(Arg2957Ter) NC_000001.11:43445936:C:T Identity +NM_005560.6:c.6859C>T NP_005551.3:p.Arg2287Cys NC_000020.11:62319695:G:A p.(Arg2287Cys) NC_000020.11:62319695:G:A p.(Arg2287Cys) NC_000020.11:62319695:G:A Identity +NM_018518.5:c.1744C>T NP_060988.3:p.Arg582Ter NC_000010.11:13192566:C:T p.(Arg582Ter) NC_000010.11:13192566:C:T p.(Arg582Ter) NC_000010.11:13192566:C:T Identity +NM_000249.4:c.1435_1453del NP_000240.1:p.Val479fs NC_000003.12:37028808:GTGGAAATGGTGGAAGATG: p.(Val479IlefsTer6) NC_000003.12:37028808:GTGGAAATGGTGGAAGATG: p.(Val479IlefsTer6) NC_000003.12:37028808:GTGGAAATGGTGGAAGATG: Analogous +NM_000033.4:c.1780G>C NP_000024.2:p.Gly594Arg NC_000023.11:153740718:G:C p.(Gly594Arg) NC_000023.11:153740718:G:C p.(Gly594Arg) NC_000023.11:153740718:G:C Identity +NM_000158.4:c.505del NP_000149.4:p.Asp169fs NC_000003.12:81649845:C: p.(Asp169IlefsTer3) NC_000003.12:81649845:C: p.(Asp169IlefsTer3) NC_000003.12:81649845:C: Analogous +NM_007118.4:c.7762_7763del NP_009049.2:p.Met2588fs NC_000005.10:14492695:AT: p.(Met2588ValfsTer9) NC_000005.10:14492695:AT: p.(Met2588ValfsTer9) NC_000005.10:14492695:AT: Analogous +NM_001018037.2:c.78dup NP_001018047.1:p.Leu27fs NC_000009.12:77177781:G:GG p.(Leu27AlafsTer18) NC_000009.12:77177781:G:GG p.(Leu27AlafsTer18) ERR:SPDI Analogous +NM_000440.3:c.2036del NP_000431.2:p.Thr679fs NC_000005.10:149883527:G: p.(Thr679ArgfsTer23) NC_000005.10:149883527:G: p.(Thr679ArgfsTer23) NC_000005.10:149883527:G: Analogous +NM_004539.4:c.965G>T NP_004530.1:p.Arg322Leu NC_000018.10:57607169:C:A p.(Arg322Leu) NC_000018.10:57607169:C:A p.(Arg322Leu) NC_000018.10:57607169:C:A Identity +NM_018518.5:c.1276C>T NP_060988.3:p.Arg426Cys NC_000010.11:13188940:C:T p.(Arg426Cys) NC_000010.11:13188940:C:T p.(Arg426Cys) NC_000010.11:13188940:C:T Identity +NM_000170.3:c.251del NP_000161.2:p.Leu84fs NC_000009.12:6645248:A: p.(Leu84ArgfsTer7) NC_000009.12:6645248:A: p.(Leu84ArgfsTer7) NC_000009.12:6645248:A: Analogous +NM_001098209.2:c.2139del NP_001091679.1:p.Pro714fs NC_000003.12:41239134:T: p.(Pro714LeufsTer21) NC_000003.12:41239134:T: p.(Pro714LeufsTer21) NC_000003.12:41239134:T: Analogous +NM_138694.4:c.484G>T NP_619639.3:p.Gly162Ter NC_000006.12:52073505:C:A p.(Gly162Ter) NC_000006.12:52073505:C:A p.(Gly162Ter) NC_000006.12:52073505:C:A Identity +NM_001330089.2:c.812C>G NP_001317018.1:p.Ser271Cys NC_000002.12:50922647:G:C p.(Ser271Cys) NC_000002.12:50922647:G:C p.(Ser271Cys) NC_000002.12:50922647:G:C Identity +NM_000033.4:c.1825_1847dup NP_000024.2:p.Met618fs NC_000023.11:153743026:TGGCGAGAAGCAGAGAATCGGCATGGC:TGGCGAGAAGCAGAGAATCGGCATGGCGAGAAGCAGAGAATCGGCATGGC p.(Met618SerfsTer26) NC_000023.11:153743026:TGGCGAGAAGCAGAGAATCGGCATGGC:TGGCGAGAAGCAGAGAATCGGCATGGCGAGAAGCAGAGAATCGGCATGGC p.(Met618SerfsTer26) ERR:SPDI Analogous +NM_000081.4:c.985C>T NP_000072.2:p.Arg329Ter NC_000001.11:235809832:G:A p.(Arg329Ter) NC_000001.11:235809832:G:A p.(Arg329Ter) NC_000001.11:235809832:G:A Identity +NM_001007792.1:c.1186del NP_001007793.1:p.Leu396fs NC_000001.11:156874946:CC:C p.(Leu396PhefsTer38) NC_000001.11:156874946:CC:C p.(Leu396PhefsTer38) NC_000001.11:156874947:C: Analogous +NM_001291860.2:c.12925C>T NP_001278789.1:p.Gln4309Ter NC_000001.11:21823696:G:A p.(Gln4309Ter) NC_000001.11:21823696:G:A p.(Gln4309Ter) NC_000001.11:21823696:G:A Identity +NM_003742.4:c.3772C>T NP_003733.2:p.Gln1258Ter NC_000002.12:168923815:G:A p.(Gln1258Ter) NC_000002.12:168923815:G:A p.(Gln1258Ter) NC_000002.12:168923815:G:A Identity +NM_000136.3:c.1181G>A NP_000127.2:p.Trp394Ter NC_000009.12:95111610:C:T p.(Trp394Ter) NC_000009.12:95111610:C:T p.(Trp394Ter) NC_000009.12:95111610:C:T Identity +NM_001001890.3:c.68_77dup NP_001001890.1:p.Ser26fs NC_000021.9:34887035:CTCATCTTGCCT:CTCATCTTGCCTCATCTTGCCT p.(Ser26ArgfsTer88) NC_000021.9:34887035:CTCATCTTGCCT:CTCATCTTGCCTCATCTTGCCT p.(Ser26ArgfsTer88) ERR:SPDI Analogous +NM_000059.4:c.3991dup NP_000050.3:p.Ser1331fs NC_000013.11:32338344:TT:TTT p.(Ser1331PhefsTer3) NC_000013.11:32338344:TT:TTT p.(Ser1331PhefsTer3) ERR:SPDI Analogous +NM_000091.5:c.864del NP_000082.2:p.Ala289fs NC_000002.12:227254690:T: p.(Ala289LeufsTer34) NC_000002.12:227254690:T: p.(Ala289LeufsTer34) NC_000002.12:227254690:T: Analogous +NM_005732.4:c.1504del NP_005723.2:p.Met502fs NC_000005.10:132591270:AAAAA:AAAA p.(Met502TrpfsTer3) NC_000005.10:132591270:AAAAA:AAAA p.(Met502TrpfsTer3) NC_000005.10:132591274:A: Analogous +NM_001308258.2:c.364del NP_001295187.1:p.Ser122fs NC_000003.12:149141161:TT:T p.(Ser122ProfsTer54) NC_000003.12:149141161:TT:T p.(Ser122ProfsTer54) NC_000003.12:149141162:T: Analogous +NM_001005373.4:c.1144C>T NP_001005373.1:p.Arg382Ter NC_000009.12:127483004:C:T p.(Arg382Ter) NC_000009.12:127483004:C:T p.(Arg382Ter) NC_000009.12:127483004:C:T Identity +NM_000118.4:c.1687G>T NP_000109.1:p.Glu563Ter NC_000009.12:127817202:C:A p.(Glu563Ter) NC_000009.12:127817202:C:A p.(Glu563Ter) NC_000009.12:127817202:C:A Identity +NM_001288653.2:c.4751A>G NP_001275582.1:p.Asp1584Gly NC_000017.11:59685719:A:G p.(Asp1584Gly) NC_000017.11:59685719:A:G p.(Asp1584Gly) NC_000017.11:59685719:A:G Identity +NM_203447.4:c.36C>G NP_982272.2:p.Phe12Leu NC_000009.12:215011:C:G p.(Phe12Leu) NC_000009.12:215011:C:G p.(Phe12Leu) NC_000009.12:215011:C:G Identity +NM_001282782.2:c.837C>A NP_001269711.1:p.Leu279= NC_000022.11:46356918:C:A p.(Leu279=) NC_000022.11:46356918:C:A p.(Leu279=) NC_000022.11:46356918:C:A Identity +NM_001042537.2:c.1928C>T NP_001036002.1:p.Pro643Leu NC_000023.11:136044545:C:T p.(Pro643Leu) NC_000023.11:136044545:C:T p.(Pro643Leu) NC_000023.11:136044545:C:T Identity +NM_001171971.3:c.1855G>T NP_001165442.1:p.Val619Leu NC_000010.11:84213162:G:T p.(Val619Leu) NC_000010.11:84213162:G:T p.(Val619Leu) NC_000010.11:84213162:G:T Identity +NM_000709.4:c.1070A>G NP_000700.1:p.Gln357Arg NC_000019.10:41423071:A:G p.(Gln357Arg) NC_000019.10:41423071:A:G p.(Gln357Arg) NC_000019.10:41423071:A:G Identity +NM_001145847.2:c.1885A>G NP_001139319.1:p.Thr629Ala NC_000004.12:15991292:T:C p.(Thr629Ala) NC_000004.12:15991292:T:C p.(Thr629Ala) NC_000004.12:15991292:T:C Identity +NM_000056.5:c.322dup NP_000047.1:p.Val108fs NC_000006.12:80129207:G:GG p.(Val108GlyfsTer11) NC_000006.12:80129207:G:GG p.(Val108GlyfsTer11) ERR:SPDI Analogous +NM_001080467.3:c.2306T>A NP_001073936.1:p.Ile769Asn NC_000018.10:49906526:A:T p.(Ile769Asn) NC_000018.10:49906526:A:T p.(Ile769Asn) NC_000018.10:49906526:A:T Identity +NM_000036.3:c.577G>A NP_000027.3:p.Asp193Asn NC_000001.11:114680448:C:T p.(Asp193Asn) NC_000001.11:114680448:C:T p.(Asp193Asn) NC_000001.11:114680448:C:T Identity +NM_000517.6:c.199C>A NP_000508.1:p.Leu67Met NC_000016.10:173227:C:A p.(Leu67Met) NC_000016.10:173227:C:A p.(Leu67Met) NC_000016.10:173227:C:A Identity +NM_019066.5:c.1015C>T NP_061939.3:p.Gln339Ter NC_000015.10:23646727:G:A p.(Gln339Ter) NC_000015.10:23646727:G:A p.(Gln339Ter) NC_000015.10:23646727:G:A Identity +NM_001293212.2:c.1141C>T NP_001280141.1:p.Leu381Phe NC_000006.12:30724142:C:T p.(Leu381Phe) NC_000006.12:30724142:C:T p.(Leu381Phe) NC_000006.12:30724142:C:T Identity +NM_198506.5:c.1676T>C NP_940908.3:p.Val559Ala NC_000004.12:109870424:T:C p.(Val559Ala) NC_000004.12:109870424:T:C p.(Val559Ala) NC_000004.12:109870424:T:C Identity +NM_001164731.2:c.1A>G NP_001158203.1:p.Met1Val NC_000002.12:86337501:T:C p.(Met1Val) NC_000002.12:86337501:T:C p.Met1? NC_000002.12:86337501:T:C Identity +NM_001199777.2:c.524T>C NP_001186706.1:p.Val175Ala NC_000012.12:89471639:A:G p.(Val175Ala) NC_000012.12:89471639:A:G p.(Val175Ala) NC_000012.12:89471639:A:G Identity +NM_003737.4:c.2338A>G NP_003728.1:p.Ile780Val NC_000011.10:6633528:T:C p.(Ile780Val) NC_000011.10:6633528:T:C p.(Ile780Val) NC_000011.10:6633528:T:C Identity +NM_001093.4:c.554G>A NP_001084.3:p.Arg185His NC_000012.12:109139958:G:A p.(Arg185His) NC_000012.12:109139958:G:A p.(Arg185His) NC_000012.12:109139958:G:A Identity +NM_001144769.5:c.15838C>T NP_001138241.1:p.Arg5280Cys NC_000006.12:56471231:G:A p.(Arg5280Cys) NC_000006.12:56471231:G:A p.(Arg5280Cys) NC_000006.12:56471231:G:A Identity +NM_004104.5:c.2645G>A NP_004095.4:p.Gly882Asp NC_000017.11:82088255:C:T p.(Gly882Asp) NC_000017.11:82088255:C:T p.(Gly882Asp) NC_000017.11:82088255:C:T Identity +NM_001306079.2:c.3532del NP_001293008.1:p.Val1178fs NC_000002.12:27234617:GGG:GG p.(Val1178SerfsTer12) NC_000002.12:27234617:GGG:GG p.(Val1178SerfsTer12) NC_000002.12:27234619:G: Analogous +NM_000217.3:c.1187G>T NP_000208.2:p.Gly396Val NC_000012.12:4912564:G:T p.(Gly396Val) NC_000012.12:4912564:G:T p.(Gly396Val) NC_000012.12:4912564:G:T Identity +NM_001387142.1:c.1480C>T NP_001374071.1:p.Gln494Ter NC_000015.10:78017947:G:A p.(Gln494Ter) NC_000015.10:78017947:G:A p.(Gln494Ter) NC_000015.10:78017947:G:A Identity +NM_001037343.2:c.1213CTT[1] NP_001032420.1:p.Leu406del NC_000023.11:18604136:CTTCTT:CTT p.(Leu406del) NC_000023.11:18604136:C:CTT ERR:Parse ERR:Parse Identity +NM_001363656.2:c.2T>G NP_001350585.1:p.Met1Arg NC_000019.10:52212720:T:G p.(Met1Arg) NC_000019.10:52212720:T:G p.Met1? NC_000019.10:52212720:T:G Identity +NM_000130.5:c.3995T>C NP_000121.2:p.Leu1332Pro NC_000001.11:169541094:A:G p.(Leu1332Pro) NC_000001.11:169541094:A:G p.(Leu1332Pro) NC_000001.11:169541094:A:G Identity +NM_000518.5:c.384G>C NP_000509.1:p.Gln128His NC_000011.10:5225657:C:G p.(Gln128His) NC_000011.10:5225657:C:G p.(Gln128His) NC_000011.10:5225657:C:G Identity +NM_000552.5:c.4413del NP_000543.3:p.Asp1472fs NC_000012.12:6019004:GGGGGG:GGGGG p.(Asp1472ThrfsTer53) NC_000012.12:6019004:GGGGGG:GGGGG p.(Asp1472ThrfsTer53) NC_000012.12:6019004:G: Analogous +NM_001204087.2:c.2125G>A NP_001191016.1:p.Glu709Lys NC_000001.11:154708091:C:T p.(Glu709Lys) NC_000001.11:154708091:C:T p.(Glu709Lys) NC_000001.11:154708091:C:T Identity +NM_001142571.2:c.778G>C NP_001136043.1:p.Asp260His NC_000017.11:35103273:C:G p.(Asp260His) NC_000017.11:35103273:C:G p.(Asp260His) NC_000017.11:35103273:C:G Identity +NM_004525.3:c.8515G>A NP_004516.2:p.Val2839Ile NC_000002.12:169198848:C:T p.(Val2839Ile) NC_000002.12:169198848:C:T p.(Val2839Ile) NC_000002.12:169198848:C:T Identity +NM_001195573.1:c.5402A>G NP_001182502.1:p.Glu1801Gly NC_000014.9:95091071:T:C p.(Glu1801Gly) NC_000014.9:95091071:T:C p.(Glu1801Gly) NC_000014.9:95091071:T:C Identity +NM_001130144.3:c.3599G>A NP_001123616.1:p.Ser1200Asn NC_000011.10:65539576:C:T p.(Ser1200Asn) NC_000011.10:65539576:C:T p.(Ser1200Asn) NC_000011.10:65539576:C:T Identity +NM_001164673.2:c.208C>A NP_001158145.1:p.Pro70Thr NC_000004.12:3473512:C:A p.(Pro70Thr) NC_000004.12:3473512:C:A p.(Pro70Thr) NC_000004.12:3473512:C:A Identity +NM_001184720.2:c.348C>G NP_001171649.1:p.Asp116Glu NC_000003.12:148996770:C:G p.(Asp116Glu) NC_000003.12:148996770:C:G p.(Asp116Glu) NC_000003.12:148996770:C:G Identity +NM_004562.3:c.52G>A NP_004553.2:p.Asp18Asn NC_000006.12:162443428:C:T p.(Asp18Asn) NC_000006.12:162443428:C:T p.(Asp18Asn) NC_000006.12:162443428:C:T Identity +NM_000724.4:c.469G>C NP_000715.2:p.Val157Leu NC_000010.11:18506510:G:C p.(Val157Leu) NC_000010.11:18506510:G:C p.(Val157Leu) NC_000010.11:18506510:G:C Identity +NM_001164097.2:c.6262A>T NP_001157569.1:p.Ile2088Phe NC_000005.10:83542225:A:T p.(Ile2088Phe) NC_000005.10:83542225:A:T p.(Ile2088Phe) NC_000005.10:83542225:A:T Identity +NM_004055.5:c.1837C>T NP_004046.2:p.Arg613Trp NC_000011.10:77123783:C:T p.(Arg613Trp) NC_000011.10:77123783:C:T p.(Arg613Trp) NC_000011.10:77123783:C:T Identity +NM_001184900.3:c.1549C>G NP_001171829.1:p.Leu517Val NC_000019.10:48211774:G:C p.(Leu517Val) NC_000019.10:48211774:G:C p.(Leu517Val) NC_000019.10:48211774:G:C Identity +NM_002907.4:c.1631A>T NP_002898.2:p.Lys544Met NC_000012.12:21471463:T:A p.(Lys544Met) NC_000012.12:21471463:T:A p.(Lys544Met) NC_000012.12:21471463:T:A Identity +NM_001142805.2:c.409T>G NP_001136277.1:p.Ser137Ala NC_000023.11:153691317:T:G p.(Ser137Ala) NC_000023.11:153691317:T:G p.(Ser137Ala) NC_000023.11:153691317:T:G Identity +NM_001320893.1:c.843del NP_001307822.1:p.Glu282fs NC_000002.12:25246289:TTT:TT p.(Glu282LysfsTer217) NC_000002.12:25246289:TTT:TT p.(Glu282LysfsTer217) NC_000002.12:25246289:T: Analogous +NM_000552.5:c.3358_3359insC NP_000543.3:p.Trp1120fs NC_000012.12:6023651::G p.(Trp1120SerfsTer22) NC_000012.12:6023650:C:G p.(Trp1120SerfsTer22) NC_000012.12:6023651:CA:G Analogous +NM_001349370.3:c.1717C>T NP_001336299.1:p.Pro573Ser NC_000003.12:47122786:G:A p.(Pro573Ser) NC_000003.12:47122786:G:A p.(Pro573Ser) NC_000003.12:47122786:G:A Identity +NM_001111125.3:c.2203C>T NP_001104595.1:p.Gln735Ter NC_000023.11:53250372:G:A p.(Gln735Ter) NC_000023.11:53250372:G:A p.(Gln735Ter) NC_000023.11:53250372:G:A Identity +NM_001994.3:c.881A>T NP_001985.2:p.His294Leu NC_000001.11:197057389:T:A p.(His294Leu) NC_000001.11:197057389:T:A p.(His294Leu) NC_000001.11:197057389:T:A Identity +NM_000504.4:c.152G>A NP_000495.1:p.Gly51Glu NC_000013.11:113129532:G:A p.(Gly51Glu) NC_000013.11:113129532:G:A p.(Gly51Glu) NC_000013.11:113129532:G:A Identity +NM_001079866.2:c.193A>C NP_001073335.1:p.Ser65Arg NC_000002.12:218661179:A:C p.(Ser65Arg) NC_000002.12:218661179:A:C p.(Ser65Arg) NC_000002.12:218661179:A:C Identity +NM_001319210.2:c.31G>A NP_001306139.1:p.Ala11Thr NC_000001.11:100352984:G:A p.(Ala11Thr) NC_000001.11:100352984:G:A p.(Ala11Thr) NC_000001.11:100352984:G:A Identity +NM_000540.3:c.11132C>T NP_000531.2:p.Thr3711Met NC_000019.10:38529047:C:T p.(Thr3711Met) NC_000019.10:38529047:C:T p.(Thr3711Met) NC_000019.10:38529047:C:T Identity +NM_006767.4:c.989G>T NP_006758.2:p.Ser330Ile NC_000022.11:20991824:G:T p.(Ser330Ile) NC_000022.11:20991824:G:T p.(Ser330Ile) NC_000022.11:20991824:G:T Identity +NM_015711.3:c.192G>C NP_056526.3:p.Glu64Asp NC_000019.10:47679361:G:C p.(Glu64Asp) NC_000019.10:47679361:G:C p.(Glu64Asp) NC_000019.10:47679361:G:C Identity +NM_001943.5:c.486T>A NP_001934.2:p.Asp162Glu NC_000018.10:31521205:T:A p.(Asp162Glu) NC_000018.10:31521205:T:A p.(Asp162Glu) NC_000018.10:31521205:T:A Identity +NM_001379500.1:c.3920C>T NP_001366429.1:p.Ser1307Leu NC_000021.9:45512297:C:T p.(Ser1307Leu) NC_000021.9:45512297:C:T p.(Ser1307Leu) NC_000021.9:45512297:C:T Identity +NM_133497.4:c.514G>C NP_598004.1:p.Val172Leu NC_000009.12:2718252:G:C p.(Val172Leu) NC_000009.12:2718252:G:C p.(Val172Leu) NC_000009.12:2718252:G:C Identity +NM_000195.5:c.849G>A NP_000186.2:p.Gly283= NC_000010.11:98429808:C:T p.(Gly283=) NC_000010.11:98429808:C:T p.(Gly283=) NC_000010.11:98429808:C:T Identity +NM_001142571.2:c.184C>T NP_001136043.1:p.Gln62Ter NC_000017.11:35116997:G:A p.(Gln62Ter) NC_000017.11:35116997:G:A p.(Gln62Ter) NC_000017.11:35116997:G:A Identity +NM_001035.3:c.5575G>A NP_001026.2:p.Glu1859Lys NC_000001.11:237614702:G:A p.(Glu1859Lys) NC_000001.11:237614702:G:A p.(Glu1859Lys) NC_000001.11:237614702:G:A Identity +NM_000135.4:c.4242C>T NP_000126.2:p.Ser1414= NC_000016.10:89738899:G:A p.(Ser1414=) NC_000016.10:89738899:G:A p.(Ser1414=) NC_000016.10:89738899:G:A Identity +NM_001142805.2:c.1572C>G NP_001136277.1:p.Ile524Met NC_000023.11:153694723:C:G p.(Ile524Met) NC_000023.11:153694723:C:G p.(Ile524Met) NC_000023.11:153694723:C:G Identity +NM_001171087.3:c.1067A>G NP_001164558.1:p.Asn356Ser NC_000003.12:184357010:T:C p.(Asn356Ser) NC_000003.12:184357010:T:C p.(Asn356Ser) NC_000003.12:184357010:T:C Identity +NM_002907.4:c.1661A>G NP_002898.2:p.Tyr554Cys NC_000012.12:21471433:T:C p.(Tyr554Cys) NC_000012.12:21471433:T:C p.(Tyr554Cys) NC_000012.12:21471433:T:C Identity +NM_001326358.2:c.2774G>A NP_001313287.1:p.Arg925His NC_000016.10:77291377:C:T p.(Arg925His) NC_000016.10:77291377:C:T p.(Arg925His) NC_000016.10:77291377:C:T Identity +NM_001160302.2:c.2587G>A NP_001153774.1:p.Val863Ile NC_000021.9:32656894:C:T p.(Val863Ile) NC_000021.9:32656894:C:T p.(Val863Ile) NC_000021.9:32656894:C:T Identity +NM_001184.4:c.3695C>A NP_001175.2:p.Ala1232Asp NC_000003.12:142538511:G:T p.(Ala1232Asp) NC_000003.12:142538511:G:T p.(Ala1232Asp) NC_000003.12:142538511:G:T Identity +NM_015512.5:c.12524G>A NP_056327.4:p.Arg4175His NC_000003.12:52399626:G:A p.(Arg4175His) NC_000003.12:52399626:G:A p.(Arg4175His) NC_000003.12:52399626:G:A Identity +NM_001001563.5:c.362A>T NP_001001563.2:p.Asp121Val NC_000019.10:39485591:A:T p.(Asp121Val) NC_000019.10:39485591:A:T p.(Asp121Val) NC_000019.10:39485591:A:T Identity +NM_001005862.3:c.2696G>A NP_001005862.1:p.Arg899Gln NC_000017.11:39725766:G:A p.(Arg899Gln) NC_000017.11:39725766:G:A p.(Arg899Gln) NC_000017.11:39725766:G:A Identity +NM_001127218.3:c.877G>A NP_001120690.1:p.Asp293Asn NC_000007.14:44116256:C:T p.(Asp293Asn) NC_000007.14:44116256:C:T p.(Asp293Asn) NC_000007.14:44116256:C:T Identity +NM_001291860.2:c.212G>A NP_001278789.1:p.Ser71Asn NC_000001.11:21895953:C:T p.(Ser71Asn) NC_000001.11:21895953:C:T p.(Ser71Asn) NC_000001.11:21895953:C:T Identity +NM_001044.5:c.385G>A NP_001035.1:p.Ala129Thr NC_000005.10:1441391:C:T p.(Ala129Thr) NC_000005.10:1441391:C:T p.(Ala129Thr) NC_000005.10:1441391:C:T Identity +NM_001099400.2:c.139G>A NP_001092870.1:p.Asp47Asn NC_000007.14:94629811:C:T p.(Asp47Asn) NC_000007.14:94629811:C:T p.(Asp47Asn) NC_000007.14:94629811:C:T Identity +NM_001364355.2:c.961T>C NP_001351284.1:p.Tyr321His NC_000005.10:88722822:A:G p.(Tyr321His) NC_000005.10:88722822:A:G p.(Tyr321His) NC_000005.10:88722822:A:G Identity +NM_001184900.3:c.1157C>T NP_001171829.1:p.Pro386Leu NC_000019.10:48221733:G:A p.(Pro386Leu) NC_000019.10:48221733:G:A p.(Pro386Leu) NC_000019.10:48221733:G:A Identity +NM_001294347.2:c.1106G>A NP_001281276.1:p.Arg369His NC_000001.11:36098379:C:T p.(Arg369His) NC_000001.11:36098379:C:T p.(Arg369His) NC_000001.11:36098379:C:T Identity +NM_015072.5:c.490G>A NP_055887.3:p.Ala164Thr NC_000014.9:75690309:G:A p.(Ala164Thr) NC_000014.9:75690309:G:A p.(Ala164Thr) NC_000014.9:75690309:G:A Identity +NM_001318219.1:c.3265C>T NP_001305148.1:p.Arg1089Cys NC_000020.11:35503529:C:T p.(Arg1089Cys) NC_000020.11:35503529:C:T p.(Arg1089Cys) NC_000020.11:35503529:C:T Identity +NM_001561.6:c.345A>C NP_001552.2:p.Lys115Asn NC_000001.11:7938193:T:G p.(Lys115Asn) NC_000001.11:7938193:T:G p.(Lys115Asn) NC_000001.11:7938193:T:G Identity +NM_001039375.3:c.40C>G NP_001034464.1:p.Pro14Ala NC_000020.11:13785107:C:G p.(Pro14Ala) NC_000020.11:13785107:C:G p.(Pro14Ala) NC_000020.11:13785107:C:G Identity +NM_033198.4:c.986C>G NP_149975.1:p.Pro329Arg NC_000017.11:28556920:G:C p.(Pro329Arg) NC_000017.11:28556920:G:C p.(Pro329Arg) NC_000017.11:28556920:G:C Identity +NM_001039.4:c.1318C>T NP_001030.2:p.Arg440Ter NC_000016.10:23212700:C:T p.(Arg440Ter) NC_000016.10:23212700:C:T p.(Arg440Ter) NC_000016.10:23212700:C:T Identity +NM_032790.4:c.199A>C NP_116179.2:p.Asn67His NC_000012.12:121626945:A:C p.(Asn67His) NW_018654719.1:32716:A:C p.(Asn67His) NC_000012.12:32716:G:C Identity +NM_003265.3:c.346G>A NP_003256.1:p.Asp116Asn NC_000004.12:186076964:G:A p.(Asp116Asn) NC_000004.12:186076964:G:A p.(Asp116Asn) NC_000004.12:186076964:G:A Identity +NM_001032409.3:c.315G>C NP_001027581.1:p.Gln105His NC_000012.12:112908669:G:C p.(Gln105His) NC_000012.12:112908669:G:C p.(Gln105His) NC_000012.12:112908669:G:C Identity +NM_001621.5:c.1978G>A NP_001612.1:p.Val660Met NC_000007.14:17339802:G:A p.(Val660Met) NC_000007.14:17339802:G:A p.(Val660Met) NC_000007.14:17339802:G:A Identity +NM_001079802.2:c.1191T>C NP_001073270.1:p.Phe397= NC_000009.12:105635068:T:C p.(Phe397=) NC_000009.12:105635068:T:C p.(Phe397=) NC_000009.12:105635068:T:C Identity +NM_004501.3:c.1430A>G NP_004492.2:p.Asp477Gly NC_000001.11:244858017:T:C p.(Asp477Gly) NC_000001.11:244858017:T:C p.(Asp477Gly) NC_000001.11:244858017:T:C Identity +NM_001321268.2:c.1020G>A NP_001308197.1:p.Arg340= NC_000017.11:58206129:C:T p.(Arg340=) NC_000017.11:58206129:C:T p.(Arg340=) NC_000017.11:58206129:C:T Identity +NM_005458.8:c.1177C>G NP_005449.5:p.His393Asp NC_000009.12:98454039:G:C p.(His393Asp) NC_000009.12:98454039:G:C p.(His393Asp) NC_000009.12:98454039:G:C Identity +NM_001365999.1:c.3838G>A NP_001352928.1:p.Ala1280Thr NC_000001.11:43428036:G:A p.(Ala1280Thr) NC_000001.11:43428036:G:A p.(Ala1280Thr) NC_000001.11:43428036:G:A Identity +NM_001195010.2:c.27C>G NP_001181939.1:p.Asp9Glu NC_000001.11:24331572:C:G p.(Asp9Glu) NC_000001.11:24331572:C:G p.(Asp9Glu) NC_000001.11:24331572:C:G Identity +NM_001252156.2:c.1599C>A NP_001239085.1:p.Tyr533Ter NC_000005.10:154918001:G:T p.(Tyr533Ter) NC_000005.10:154918001:G:T p.(Tyr533Ter) NC_000005.10:154918001:G:T Identity +NM_000527.5:c.1070_1071dup NP_000518.1:p.Cys358fs NC_000019.10:11111521:GAG:GAGAG p.(Cys358SerfsTer13) NC_000019.10:11111521:GAG:GAGAG p.(Cys358SerfsTer13) ERR:SPDI Analogous +NM_001113755.3:c.5C>T NP_001107227.1:p.Ala2Val NC_000022.11:50529704:G:A p.(Ala2Val) NC_000022.11:50529704:G:A p.(Ala2Val) NC_000022.11:50529704:G:A Identity +NM_000832.7:c.286C>T NP_000823.4:p.Pro96Ser NC_000009.12:137142039:C:T p.(Pro96Ser) NC_000009.12:137142039:C:T p.(Pro96Ser) NC_000009.12:137142039:C:T Identity +NM_001197104.2:c.7475A>G NP_001184033.1:p.Asp2492Gly NC_000011.10:118503366:A:G p.(Asp2492Gly) NC_000011.10:118503366:A:G p.(Asp2492Gly) NC_000011.10:118503366:A:G Identity +NM_001385640.1:c.2168G>C NP_001372569.1:p.Gly723Ala NC_000001.11:943363:G:C p.(Gly723Ala) NC_000001.11:943363:G:C p.(Gly723Ala) NC_000001.11:943363:G:C Identity +NM_001166103.2:c.527G>A NP_001159575.1:p.Arg176His NC_000019.10:38291944:G:A p.(Arg176His) NC_000019.10:38291944:G:A p.(Arg176His) NC_000019.10:38291944:G:A Identity +NM_000475.5:c.469C>T NP_000466.2:p.His157Tyr NC_000023.11:30308894:G:A p.(His157Tyr) NC_000023.11:30308894:G:A p.(His157Tyr) NC_000023.11:30308894:G:A Identity +NM_000079.4:c.1184C>T NP_000070.1:p.Ala395Val NC_000002.12:174748637:G:A p.(Ala395Val) NC_000002.12:174748637:G:A p.(Ala395Val) NC_000002.12:174748637:G:A Identity +NM_001001563.5:c.167G>C NP_001001563.2:p.Gly56Ala NC_000019.10:39481940:G:C p.(Gly56Ala) NC_000019.10:39481940:G:C p.(Gly56Ala) NC_000019.10:39481940:G:C Identity +NM_002976.4:c.4865G>A NP_002967.2:p.Arg1622Gln NC_000002.12:166405763:C:T p.(Arg1622Gln) NC_000002.12:166405763:C:T p.(Arg1622Gln) NC_000002.12:166405763:C:T Identity +NM_002336.3:c.246A>T NP_002327.2:p.Lys82Asn NC_000012.12:12244464:T:A p.(Lys82Asn) NC_000012.12:12244464:T:A p.(Lys82Asn) NC_000012.12:12244464:T:A Identity +NM_206933.4:c.11288A>G NP_996816.3:p.Tyr3763Cys NC_000001.11:215758695:T:C p.(Tyr3763Cys) NC_000001.11:215758695:T:C p.(Tyr3763Cys) NC_000001.11:215758695:T:C Identity +NM_000390.4:c.951G>C NP_000381.1:p.Glu317Asp NC_000023.11:85956367:C:G p.(Glu317Asp) NC_000023.11:85956367:C:G p.(Glu317Asp) NC_000023.11:85956367:C:G Identity +NM_000632.4:c.2530C>T NP_000623.2:p.Arg844Cys NC_000016.10:31325523:C:T p.(Arg844Cys) NC_000016.10:31325523:C:T p.(Arg844Cys) NC_000016.10:31325523:C:T Identity +NM_206933.4:c.13781A>G NP_996816.3:p.Tyr4594Cys NC_000001.11:215674129:T:C p.(Tyr4594Cys) NC_000001.11:215674129:T:C p.(Tyr4594Cys) NC_000001.11:215674129:T:C Identity +NM_001378120.1:c.4718T>G NP_001365049.1:p.Phe1573Cys NC_000002.12:148490349:T:G p.(Phe1573Cys) NC_000002.12:148490349:T:G p.(Phe1573Cys) NC_000002.12:148490349:T:G Identity +NM_001127384.3:c.2404G>T NP_001120856.1:p.Asp802Tyr NC_000010.11:65920613:C:A p.(Asp802Tyr) NC_000010.11:65920613:C:A p.(Asp802Tyr) NC_000010.11:65920613:C:A Identity +NM_001164317.2:c.4172C>T NP_001157789.1:p.Ala1391Val NC_000003.12:58126711:C:T p.(Ala1391Val) NC_000003.12:58126711:C:T p.(Ala1391Val) NC_000003.12:58126711:C:T Identity +NM_000195.5:c.240G>A NP_000186.2:p.Leu80= NC_000010.11:98435649:C:T p.(Leu80=) NC_000010.11:98435649:C:T p.(Leu80=) NC_000010.11:98435649:C:T Identity +NM_005458.8:c.1117A>G NP_005449.5:p.Met373Val NC_000009.12:98454099:T:C p.(Met373Val) NC_000009.12:98454099:T:C p.(Met373Val) NC_000009.12:98454099:T:C Identity +NM_017780.4:c.7052C>T NP_060250.2:p.Pro2351Leu NC_000008.11:60856089:C:T p.(Pro2351Leu) NC_000008.11:60856089:C:T p.(Pro2351Leu) NC_000008.11:60856089:C:T Identity +NM_015180.6:c.9763T>G NP_055995.4:p.Tyr3255Asp NC_000014.9:64055961:T:G p.(Tyr3255Asp) NC_000014.9:64055961:T:G p.(Tyr3255Asp) NC_000014.9:64055961:T:G Identity +NM_001032221.6:c.145_148del NP_001027392.1:p.Asp49fs NC_000009.12:127653767:GACAGACA:GACA p.(Asp49SerfsTer2) NC_000009.12:127653767:GACAGACA:GACA p.(Asp49SerfsTer2) NC_000009.12:127653771:GACA: Analogous +NM_001177984.3:c.5106CTT[2] NP_001171455.1:p.Phe1705del NC_000012.12:51806713:TCTTCTTCTT:TCTTCTT p.(Phe1705del) NC_000012.12:51806714:C:CTTCTT ERR:Parse ERR:Parse Identity +NM_000132.4:c.6305G>A NP_000123.1:p.Gly2102Asp NC_000023.11:154896200:C:T p.(Gly2102Asp) NC_000023.11:154896200:C:T p.(Gly2102Asp) NC_000023.11:154896200:C:T Identity +NM_001256850.1:c.98863C>T NP_001243779.1:p.Arg32955Cys NC_000002.12:178532828:G:A p.(Arg32955Cys) NC_000002.12:178532828:G:A p.(Arg32955Cys) NC_000002.12:178532828:G:A Identity +LRG_737t2:c.3311C>G LRG_737p2:p.Pro1104Arg NC_000009.12:134806240:C:G ERR:Data provider error: ValueError: Transcript LRG_737t2 not found ERR:Data provider error: ValueError: Transcript LRG_737t2 not found ERR:AlignmentMapper(tx_ac=LRG_737t2, alt_ac=LRG_737t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_737t2, alt_ac=LRG_737t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_737t2 not found +NM_000587.4:c.2008G>A NP_000578.2:p.Ala670Thr NC_000005.10:40972527:G:A p.(Ala670Thr) NC_000005.10:40972527:G:A p.(Ala670Thr) NC_000005.10:40972527:G:A Identity +NM_001195304.2:c.307G>A NP_001182233.1:p.Val103Met NC_000010.11:110900488:C:T p.(Val103Met) NC_000010.11:110900488:C:T p.(Val103Met) NC_000010.11:110900488:C:T Identity +NM_001029896.2:c.941G>A NP_001025067.1:p.Arg314His NC_000023.11:49075167:C:T p.(Arg314His) NC_000023.11:49075167:C:T p.(Arg314His) NC_000023.11:49075167:C:T Identity +NM_001321120.2:c.1584A>C NP_001308049.1:p.Glu528Asp NC_000017.11:61483458:A:C p.(Glu528Asp) NC_000017.11:61483458:A:C p.(Glu528Asp) NC_000017.11:61483458:A:C Identity +NM_001005360.3:c.1131G>A NP_001005360.1:p.Met377Ile NC_000019.10:10795373:G:A p.(Met377Ile) NC_000019.10:10795373:G:A p.(Met377Ile) NC_000019.10:10795373:G:A Identity +NM_001160306.2:c.4436C>G NP_001153778.1:p.Thr1479Arg NC_000021.9:32631139:G:C p.(Thr1479Arg) NC_000021.9:32631139:G:C p.(Thr1479Arg) NC_000021.9:32631139:G:C Identity +NM_000118.4:c.758T>C NP_000109.1:p.Leu253Pro NC_000009.12:127825288:A:G p.(Leu253Pro) NC_000009.12:127825288:A:G p.(Leu253Pro) NC_000009.12:127825288:A:G Identity +NM_000342.4:c.2188C>T NP_000333.1:p.Arg730Cys NC_000017.11:44253240:G:A p.(Arg730Cys) NC_000017.11:44253240:G:A p.(Arg730Cys) NC_000017.11:44253240:G:A Identity +NM_000182.5:c.1167dup NP_000173.2:p.Lys390Ter NC_000002.12:26204114:AA:AAA p.(Lys390Ter) NC_000002.12:26204114:AA:AAA p.(Lys390Ter) ERR:SPDI Identity +NM_001164507.2:c.11762C>T NP_001157979.2:p.Pro3921Leu NC_000002.12:151612228:G:A p.(Pro3921Leu) NC_000002.12:151612228:G:A p.(Pro3921Leu) NC_000002.12:151612228:G:A Identity +NM_001271999.2:c.2503A>G NP_001258928.1:p.Asn835Asp NC_000001.11:62555917:T:C p.(Asn835Asp) NC_000001.11:62555917:T:C p.(Asn835Asp) NC_000001.11:62555917:T:C Identity +NM_001184985.2:c.3103G>T NP_001171914.1:p.Val1035Leu NC_000012.12:868828:G:T p.(Val1035Leu) NC_000012.12:868828:G:T p.(Val1035Leu) NC_000012.12:868828:G:T Identity +NM_001190709.2:c.1052A>G NP_001177638.1:p.Glu351Gly NC_000001.11:103022817:T:C p.(Glu351Gly) NC_000001.11:103022817:T:C p.(Glu351Gly) NC_000001.11:103022817:T:C Identity +NM_000814.6:c.1079G>A NP_000805.1:p.Arg360Gln NC_000015.10:26560932:C:T p.(Arg360Gln) NC_000015.10:26560932:C:T p.(Arg360Gln) NC_000015.10:26560932:C:T Identity +NM_001290787.2:c.1862G>C NP_001277716.1:p.Gly621Ala NC_000002.12:232481626:C:G p.(Gly621Ala) NC_000002.12:232481626:C:G p.(Gly621Ala) NC_000002.12:232481626:C:G Identity +NM_000489.6:c.5809G>A NP_000480.3:p.Gly1937Arg NC_000023.11:77599557:C:T p.(Gly1937Arg) NC_000023.11:77599557:C:T p.(Gly1937Arg) NC_000023.11:77599557:C:T Identity +NM_000390.4:c.484G>A NP_000381.1:p.Asp162Asn NC_000023.11:85963882:C:T p.(Asp162Asn) NC_000023.11:85963882:C:T p.(Asp162Asn) NC_000023.11:85963882:C:T Identity +NM_001164730.2:c.224T>C NP_001158202.1:p.Leu75Pro NC_000002.12:86254793:A:G p.(Leu75Pro) NC_000002.12:86254793:A:G p.(Leu75Pro) NC_000002.12:86254793:A:G Identity +NM_000263.4:c.1082G>T NP_000254.2:p.Trp361Leu NC_000017.11:42543087:G:T p.(Trp361Leu) NC_000017.11:42543087:G:T p.(Trp361Leu) NC_000017.11:42543087:G:T Identity +NM_003126.4:c.2671C>T NP_003117.2:p.Arg891Ter NC_000001.11:158657610:G:A p.(Arg891Ter) NC_000001.11:158657610:G:A p.(Arg891Ter) NC_000001.11:158657610:G:A Identity +NM_001357321.2:c.326G>A NP_001344250.1:p.Cys109Tyr NC_000002.12:43851586:G:A p.(Cys109Tyr) NC_000002.12:43851586:G:A p.(Cys109Tyr) NC_000002.12:43851586:G:A Identity +NM_001353591.2:c.573G>A NP_001340520.1:p.Ala191= NC_000014.9:74295167:C:T p.(Ala191=) NC_000014.9:74295167:C:T p.(Ala191=) NC_000014.9:74295167:C:T Identity +NM_001163022.3:c.1022C>G NP_001156494.1:p.Ser341Cys NC_000020.11:21163137:C:G p.(Ser341Cys) NC_000020.11:21163137:C:G p.(Ser341Cys) NC_000020.11:21163137:C:G Identity +NM_000587.4:c.1792A>T NP_000578.2:p.Thr598Ser NC_000005.10:40964782:A:T p.(Thr598Ser) NC_000005.10:40964782:A:T p.(Thr598Ser) NC_000005.10:40964782:A:T Identity +NM_000495.5:c.361A>G NP_000486.1:p.Ile121Val NC_000023.11:108568797:A:G p.(Ile121Val) NC_000023.11:108568797:A:G p.(Ile121Val) NC_000023.11:108568797:A:G Identity +NM_001195226.2:c.229T>C NP_001182155.2:p.Trp77Arg NC_000022.11:18925164:A:G p.(Trp77Arg) NC_000022.11:18925164:A:G p.(Trp77Arg) NC_000022.11:18925164:A:G Identity +NM_001135597.2:c.3563A>G NP_001129069.1:p.Lys1188Arg NC_000002.12:55317599:T:C p.(Lys1188Arg) NC_000002.12:55317599:T:C p.(Lys1188Arg) NC_000002.12:55317599:T:C Identity +NM_001136024.4:c.1588G>T NP_001129496.1:p.Ala530Ser NC_000023.11:17726224:G:T p.(Ala530Ser) NC_000023.11:17726224:G:T p.(Ala530Ser) NC_000023.11:17726224:G:T Identity +NM_001330311.2:c.469G>A NP_001317240.1:p.Ala157Thr NC_000001.11:1341802:C:T p.(Ala157Thr) NC_000001.11:1341802:C:T p.(Ala157Thr) NC_000001.11:1341802:C:T Identity +NM_013334.4:c.551A>G NP_037466.3:p.Gln184Arg NC_000003.12:49722605:T:C p.(Gln184Arg) NC_000003.12:49722605:T:C p.(Gln184Arg) NC_000003.12:49722605:T:C Identity +NM_000028.3:c.2192C>T NP_000019.2:p.Ala731Val NC_000001.11:99881574:C:T p.(Ala731Val) NC_000001.11:99881574:C:T p.(Ala731Val) NC_000001.11:99881574:C:T Identity +NM_000834.5:c.959G>C NP_000825.2:p.Ser320Thr NC_000012.12:13753367:C:G p.(Ser320Thr) NC_000012.12:13753367:C:G p.(Ser320Thr) NC_000012.12:13753367:C:G Identity +NM_000038.6:c.7624A>G NP_000029.2:p.Asn2542Asp NC_000005.10:112843217:A:G p.(Asn2542Asp) NC_000005.10:112843217:A:G p.(Asn2542Asp) NC_000005.10:112843217:A:G Identity +NM_000179.3:c.1333A>G NP_000170.1:p.Ser445Gly NC_000002.12:47799315:A:G p.(Ser445Gly) NC_000002.12:47799315:A:G p.(Ser445Gly) NC_000002.12:47799315:A:G Identity +NM_001035.3:c.2161G>A NP_001026.2:p.Asp721Asn NC_000001.11:237496709:G:A p.(Asp721Asn) NC_000001.11:237496709:G:A p.(Asp721Asn) NC_000001.11:237496709:G:A Identity +NM_000251.3:c.1954C>T NP_000242.1:p.Pro652Ser NC_000002.12:47475218:C:T p.(Pro652Ser) NC_000002.12:47475218:C:T p.(Pro652Ser) NC_000002.12:47475218:C:T Identity +NM_001005242.3:c.520G>T NP_001005242.2:p.Ala174Ser NC_000012.12:32878359:C:A p.(Ala174Ser) NC_000012.12:32878359:C:A p.(Ala174Ser) NC_000012.12:32878359:C:A Identity +NM_000527.5:c.56C>G NP_000518.1:p.Ala19Gly NC_000019.10:11089603:C:G p.(Ala19Gly) NC_000019.10:11089603:C:G p.(Ala19Gly) NC_000019.10:11089603:C:G Identity +NM_001024688.3:c.1970T>C NP_001019859.1:p.Leu657Pro NC_000008.11:89937043:A:G p.(Leu657Pro) NC_000008.11:89937043:A:G p.(Leu657Pro) NC_000008.11:89937043:A:G Identity +NM_000051.4:c.3055C>A NP_000042.3:p.Leu1019Ile NC_000011.10:108271383:C:A p.(Leu1019Ile) NC_000011.10:108271383:C:A p.(Leu1019Ile) NC_000011.10:108271383:C:A Identity +LRG_1401t2:c.1363del LRG_1401p2:p.His455fs NC_000016.10:15759634:GGG:GG ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1401t2, alt_ac=LRG_1401t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1401t2 not found +NM_005061.3:c.923A>T NP_005052.1:p.Asp308Val NC_000016.10:1946652:T:A p.(Asp308Val) NC_000016.10:1946652:T:A p.(Asp308Val) NC_000016.10:1946652:T:A Identity +NM_024589.3:c.467C>T NP_078865.1:p.Ala156Val NC_000016.10:4798632:G:A p.(Ala156Val) NC_000016.10:4798632:G:A p.(Ala156Val) NC_000016.10:4798632:G:A Identity +NM_003126.4:c.3026_3027delinsGA NP_003117.2:p.Ser1009Ter NC_000001.11:158654619:GG:TC p.(Ser1009Ter) NC_000001.11:158654619:GG:TC p.(Ser1009Ter) NC_000001.11:158654619:GG:TC Identity +NM_001256560.2:c.179T>G NP_001243489.1:p.Ile60Ser NC_000003.12:58208268:A:C p.(Ile60Ser) NC_000003.12:58208268:A:C p.(Ile60Ser) NC_000003.12:58208268:A:C Identity +NM_001204197.3:c.1638G>A NP_001191126.1:p.Trp546Ter NC_000013.11:35655708:G:A p.(Trp546Ter) NC_000013.11:35655708:G:A p.(Trp546Ter) NC_000013.11:35655708:G:A Identity +NM_001184772.3:c.3601G>C NP_001171701.1:p.Glu1201Gln NC_000023.11:130021143:G:C p.(Glu1201Gln) NC_000023.11:130021143:G:C p.(Glu1201Gln) NC_000023.11:130021143:G:C Identity +NM_001288653.2:c.2893C>G NP_001275582.1:p.Leu965Val NC_000017.11:59679480:C:G p.(Leu965Val) NC_000017.11:59679480:C:G p.(Leu965Val) NC_000017.11:59679480:C:G Identity +NM_001165963.4:c.1719C>G NP_001159435.1:p.Ser573Arg NC_000002.12:166043992:G:C p.(Ser573Arg) NC_000002.12:166043992:G:C p.(Ser573Arg) NC_000002.12:166043992:G:C Identity +NM_018838.5:c.338A>G NP_061326.1:p.His113Arg NC_000012.12:94971539:T:C p.(His113Arg) NC_000012.12:94971539:T:C p.(His113Arg) NC_000012.12:94971539:T:C Identity +NM_001256850.1:c.42429T>G NP_001243779.1:p.Tyr14143Ter NC_000002.12:178617998:A:C p.(Tyr14143Ter) NC_000002.12:178617998:A:C p.(Tyr14143Ter) NC_000002.12:178617998:A:C Identity +NM_005908.4:c.1496GTC[1] NP_005899.3:p.Arg500del NC_000004.12:102657884:GACGAC:GAC p.(Arg500del) NC_000004.12:102657889:C:GAC ERR:Parse ERR:Parse Identity +NM_001256850.1:c.57844del NP_001243779.1:p.Thr19282fs NC_000002.12:178588957:T: p.(Thr19282LeufsTer3) NC_000002.12:178588957:T: p.(Thr19282LeufsTer3) NC_000002.12:178588957:T: Analogous +NM_015560.3:c.305A>G NP_056375.2:p.Tyr102Cys NC_000003.12:193614994:A:G p.(Tyr102Cys) NC_000003.12:193614994:A:G p.(Tyr102Cys) NC_000003.12:193614994:A:G Identity +NM_001177428.1:c.2012T>C NP_001170899.1:p.Met671Thr NC_000012.12:109788454:A:G p.(Met671Thr) NC_000012.12:109788454:A:G p.(Met671Thr) NC_000012.12:109788454:A:G Identity +NM_015346.4:c.2104C>T NP_056161.2:p.Arg702Cys NC_000014.9:67798157:G:A p.(Arg702Cys) NC_000014.9:67798157:G:A p.(Arg702Cys) NC_000014.9:67798157:G:A Identity +NM_000884.3:c.93_96del NP_000875.2:p.Tyr32fs NC_000003.12:49029254:GTAGGT:GT p.(Tyr32MetfsTer19) NC_000003.12:49029254:GTAGGT:GT p.(Tyr32MetfsTer19) NC_000003.12:49029254:GTAG: Analogous +NM_147127.5:c.24del NP_667338.3:p.Arg9fs NC_000004.12:5708489:CCCCC:CCCC p.(Arg9AlafsTer52) NC_000004.12:5708489:CCCCC:CCCC p.(Arg9AlafsTer52) NC_000004.12:5708489:C: Analogous +NM_001347721.2:c.1006del NP_001334650.1:p.Trp336fs NC_000021.9:37493097:T: p.(Trp336GlyfsTer23) NC_000021.9:37493097:T: p.(Trp336GlyfsTer23) NC_000021.9:37493097:T: Analogous +NM_001115113.3:c.850C>T NP_001108585.2:p.Arg284Cys NC_000001.11:224418380:G:A p.(Arg284Cys) NC_000001.11:224418380:G:A p.(Arg284Cys) NC_000001.11:224418380:G:A Identity +NM_001252020.2:c.1427G>T NP_001238949.1:p.Gly476Val NC_000015.10:31050469:C:A p.(Gly476Val) NC_000015.10:31050469:C:A p.(Gly476Val) NC_000015.10:31050469:C:A Identity +NM_001032409.3:c.1054G>A NP_001027581.1:p.Gly352Ser NC_000012.12:112919501:G:A p.(Gly352Ser) NC_000012.12:112919501:G:A p.(Gly352Ser) NC_000012.12:112919501:G:A Identity +NM_001384165.1:c.464A>G NP_001371094.1:p.Tyr155Cys NC_000017.11:44075810:A:G p.(Tyr155Cys) NC_000017.11:44075810:A:G p.(Tyr155Cys) NC_000017.11:44075810:A:G Identity +NM_183075.3:c.452C>A NP_898898.1:p.Pro151Gln NC_000004.12:107932094:C:A p.(Pro151Gln) NC_000004.12:107932094:C:A p.(Pro151Gln) NC_000004.12:107932094:C:A Identity +NM_015909.4:c.3392G>A NP_056993.2:p.Arg1131His NC_000002.12:15379799:C:T p.(Arg1131His) NC_000002.12:15379799:C:T p.(Arg1131His) NC_000002.12:15379799:C:T Identity +NM_001184720.2:c.990T>A NP_001171649.1:p.Thr330= NC_000003.12:149026920:T:A p.(Thr330=) NC_000003.12:149026920:T:A p.(Thr330=) NC_000003.12:149026920:T:A Identity +NM_001195010.2:c.1331G>A NP_001181939.1:p.Arg444His NC_000001.11:24346566:G:A p.(Arg444His) NC_000001.11:24346566:G:A p.(Arg444His) NC_000001.11:24346566:G:A Identity +NM_004525.3:c.3659_3660inv NP_004516.2:p.Ala1220Val NC_000002.12:169242962:TG:CA p.(Ala1220Val) NC_000002.12:169242962:TG:CA p.(Ala1220Val) ERR:SPDI Identity +NM_005045.4:c.3412G>A NP_005036.2:p.Gly1138Arg NC_000007.14:103596582:C:T p.(Gly1138Arg) NC_000007.14:103596582:C:T p.(Gly1138Arg) NC_000007.14:103596582:C:T Identity +NM_000119.3:c.710A>G NP_000110.2:p.Gln237Arg NC_000015.10:43210368:T:C p.(Gln237Arg) NC_000015.10:43210368:T:C p.(Gln237Arg) NC_000015.10:43210368:T:C Identity +NM_000262.3:c.419A>G NP_000253.1:p.Gln140Arg NC_000022.11:42067195:T:C p.(Gln140Arg) NC_000022.11:42067195:T:C p.(Gln140Arg) NC_000022.11:42067195:T:C Identity +NM_001256850.1:c.67565G>T NP_001243779.1:p.Arg22522Leu NC_000002.12:178573643:C:A p.(Arg22522Leu) NC_000002.12:178573643:C:A p.(Arg22522Leu) NC_000002.12:178573643:C:A Identity +NM_001256850.1:c.66970G>A NP_001243779.1:p.Asp22324Asn NC_000002.12:178574238:C:T p.(Asp22324Asn) NC_000002.12:178574238:C:T p.(Asp22324Asn) NC_000002.12:178574238:C:T Identity +NM_016038.4:c.664G>C NP_057122.2:p.Glu222Gln NC_000007.14:66988459:C:G p.(Glu222Gln) NC_000007.14:66988459:C:G p.(Glu222Gln) NC_000007.14:66988459:C:G Identity +NM_000301.5:c.1997T>C NP_000292.1:p.Ile666Thr NC_000006.12:160739186:T:C p.(Ile666Thr) NC_000006.12:160739186:T:C p.(Ile666Thr) NC_000006.12:160739186:T:C Identity +NM_001126131.2:c.1816dup NP_001119603.1:p.Thr606fs NC_000015.10:89325582:T:TT p.(Thr606AsnfsTer78) NC_000015.10:89325582:T:TT p.(Thr606AsnfsTer78) ERR:SPDI Analogous +NM_003126.4:c.209T>G NP_003117.2:p.Met70Arg NC_000001.11:158685162:A:C p.(Met70Arg) NC_000001.11:158685162:A:C p.(Met70Arg) NC_000001.11:158685162:A:C Identity +NM_001270399.2:c.431G>T NP_001257328.1:p.Gly144Val NC_000012.12:49185934:C:A p.(Gly144Val) NC_000012.12:49185934:C:A p.(Gly144Val) NC_000012.12:49185934:C:A Identity +NM_000562.3:c.107C>A NP_000553.1:p.Ala36Glu NC_000001.11:56867637:C:A p.(Ala36Glu) NC_000001.11:56867637:C:A p.(Ala36Glu) NC_000001.11:56867637:C:A Identity +NM_213655.5:c.2220dup NP_998820.3:p.Phe741fs NC_000012.12:865189:C:CC p.(Phe741LeufsTer30) NC_000012.12:865189:C:CC p.(Phe741LeufsTer30) ERR:SPDI Analogous +NM_000397.4:c.697G>A NP_000388.2:p.Ala233Thr NC_000023.11:37798976:G:A p.(Ala233Thr) NC_000023.11:37798976:G:A p.(Ala233Thr) NC_000023.11:37798976:G:A Identity +NM_000632.4:c.737G>A NP_000623.2:p.Arg246Gln NC_000016.10:31273396:G:A p.(Arg246Gln) NC_000016.10:31273396:G:A p.(Arg246Gln) NC_000016.10:31273396:G:A Identity +NM_001167.4:c.1075A>G NP_001158.2:p.Thr359Ala NC_000023.11:123892748:A:G p.(Thr359Ala) NC_000023.11:123892748:A:G p.(Thr359Ala) NC_000023.11:123892748:A:G Identity +NM_001032409.3:c.760G>A NP_001027581.1:p.Gly254Arg NC_000012.12:112916613:G:A p.(Gly254Arg) NC_000012.12:112916613:G:A p.(Gly254Arg) NC_000012.12:112916613:G:A Identity +NM_001041.4:c.4999G>A NP_001032.2:p.Val1667Ile NC_000003.12:164991461:C:T p.(Val1667Ile) NC_000003.12:164991461:C:T p.(Val1667Ile) NC_000003.12:164991461:C:T Identity +NM_001301738.2:c.689G>C NP_001288667.1:p.Gly230Ala NC_000005.10:139478339:C:G p.(Gly230Ala) NC_000005.10:139478339:C:G p.(Gly230Ala) NC_000005.10:139478339:C:G Identity +NM_000037.4:c.4813del NP_000028.3:p.Ala1605fs NC_000008.11:41672636:CCCCC:CCCC p.(Ala1605HisfsTer85) NC_000008.11:41672636:CCCCC:CCCC p.(Ala1605HisfsTer85) NC_000008.11:41672636:C: Analogous +NM_001283009.2:c.901G>A NP_001269938.1:p.Ala301Thr NC_000020.11:63674074:G:A p.(Ala301Thr) NC_000020.11:63674074:G:A p.(Ala301Thr) NC_000020.11:63674074:G:A Identity +NM_001942.4:c.1478A>C NP_001933.2:p.Asn493Thr NC_000018.10:31339815:A:C p.(Asn493Thr) NC_000018.10:31339815:A:C p.(Asn493Thr) NC_000018.10:31339815:A:C Identity +NM_004975.4:c.1880G>T NP_004966.1:p.Arg627Leu NC_000020.11:49373679:C:A p.(Arg627Leu) NC_000020.11:49373679:C:A p.(Arg627Leu) NC_000020.11:49373679:C:A Identity +NM_014918.5:c.1075C>T NP_055733.2:p.Pro359Ser NC_000015.10:101178721:G:A p.(Pro359Ser) NC_000015.10:101178721:G:A p.(Pro359Ser) NC_000015.10:101178721:G:A Identity +NM_018417.6:c.701C>T NP_060887.2:p.Thr234Met NC_000001.11:167896632:G:A p.(Thr234Met) NC_000001.11:167896632:G:A p.(Thr234Met) NC_000001.11:167896632:G:A Identity +NM_001301738.2:c.212G>A NP_001288667.1:p.Arg71His NC_000005.10:139481492:C:T p.(Arg71His) NC_000005.10:139481492:C:T p.(Arg71His) NC_000005.10:139481492:C:T Identity +NM_003105.6:c.3620G>A NP_003096.2:p.Arg1207Gln NC_000011.10:121583496:G:A p.(Arg1207Gln) NC_000011.10:121583496:G:A p.(Arg1207Gln) NC_000011.10:121583496:G:A Identity +NM_001256468.2:c.3835C>A NP_001243397.1:p.Leu1279Ile NC_000010.11:75029207:C:A p.(Leu1279Ile) NC_000010.11:75029207:C:A p.(Leu1279Ile) NC_000010.11:75029207:C:A Identity +NM_002769.5:c.617G>C NP_002760.1:p.Cys206Ser NC_000007.14:142752892:G:C p.(Cys206Ser) NC_000007.14:142752892:G:C p.(Cys206Ser) NC_000007.14:142752892:G:C Identity +NM_001099856.6:c.991C>G NP_001093326.2:p.Leu331Val NC_000023.11:154562827:C:G p.(Leu331Val) NC_000023.11:154562827:C:G p.(Leu331Val) NC_000023.11:154562827:C:G Identity +NM_001281737.2:c.1511C>T NP_001268666.1:p.Ser504Leu NC_000004.12:158706811:C:T p.(Ser504Leu) NC_000004.12:158706811:C:T p.(Ser504Leu) NC_000004.12:158706811:C:T Identity +NM_000426.4:c.8356C>T NP_000417.3:p.Arg2786Cys NC_000006.12:129502769:C:T p.(Arg2786Cys) NC_000006.12:129502769:C:T p.(Arg2786Cys) NC_000006.12:129502769:C:T Identity +NM_000492.4:c.2773A>G NP_000483.3:p.Thr925Ala NC_000007.14:117603646:A:G p.(Thr925Ala) NC_000007.14:117603646:A:G p.(Thr925Ala) NC_000007.14:117603646:A:G Identity +NM_001351527.2:c.7985G>A NP_001338456.1:p.Arg2662Lys NC_000009.12:132264287:C:T p.(Arg2662Lys) NC_000009.12:132264287:C:T p.(Arg2662Lys) NC_000009.12:132264287:C:T Identity +NM_001330209.2:c.1622G>A NP_001317138.1:p.Cys541Tyr NC_000023.11:13760201:G:A p.(Cys541Tyr) NC_000023.11:13760201:G:A p.(Cys541Tyr) NC_000023.11:13760201:G:A Identity +NM_000066.4:c.322G>A NP_000057.3:p.Glu108Lys NC_000001.11:56956837:C:T p.(Glu108Lys) NC_000001.11:56956837:C:T p.(Glu108Lys) NC_000001.11:56956837:C:T Identity +NM_017947.4:c.509C>T NP_060417.4:p.Thr170Ile NC_000018.10:36199891:C:T p.(Thr170Ile) NC_000018.10:36199891:C:T p.(Thr170Ile) NC_000018.10:36199891:C:T Identity +NM_001942.4:c.1583A>C NP_001933.2:p.Tyr528Ser NC_000018.10:31339920:A:C p.(Tyr528Ser) NC_000018.10:31339920:A:C p.(Tyr528Ser) NC_000018.10:31339920:A:C Identity +NM_001282368.2:c.2048G>A NP_001269297.1:p.Ser683Asn NC_000006.12:75923667:C:T p.(Ser683Asn) NC_000006.12:75923667:C:T p.(Ser683Asn) NC_000006.12:75923667:C:T Identity +NM_001008844.3:c.2390T>C NP_001008844.1:p.Val797Ala NC_000006.12:7574748:T:C p.(Val797Ala) NC_000006.12:7574748:T:C p.(Val797Ala) NC_000006.12:7574748:T:C Identity +NM_001161357.2:c.1064G>A NP_001154829.1:p.Arg355His NC_000019.10:17776042:G:A p.(Arg355His) NC_000019.10:17776042:G:A p.(Arg355His) NC_000019.10:17776042:G:A Identity +NM_001306193.2:c.302A>G NP_001293122.1:p.Asn101Ser NC_000023.11:132094076:T:C p.(Asn101Ser) NC_000023.11:132094076:T:C p.(Asn101Ser) NC_000023.11:132094076:T:C Identity +NM_001130066.2:c.603T>G NP_001123538.1:p.Asp201Glu NC_000006.12:33435244:T:G p.(Asp201Glu) NC_000006.12:33435244:T:G p.(Asp201Glu) NC_000006.12:33435244:T:G Identity +NM_000489.6:c.2683G>C NP_000480.3:p.Val895Leu NC_000023.11:77682572:C:G p.(Val895Leu) NC_000023.11:77682572:C:G p.(Val895Leu) NC_000023.11:77682572:C:G Identity +NM_170606.3:c.4802A>G NP_733751.2:p.Asn1601Ser NC_000007.14:152187467:T:C p.(Asn1601Ser) NC_000007.14:152187467:T:C p.(Asn1601Ser) NC_000007.14:152187467:T:C Identity +NM_024928.5:c.743C>G NP_079204.2:p.Ser248Cys NC_000010.11:103897557:G:C p.(Ser248Cys) NC_000010.11:103897557:G:C p.(Ser248Cys) NC_000010.11:103897557:G:C Identity +NM_001041.4:c.3014A>C NP_001032.2:p.Asn1005Thr NC_000003.12:165023654:T:G p.(Asn1005Thr) NC_000003.12:165023654:T:G p.(Asn1005Thr) NC_000003.12:165023654:T:G Identity +NM_002386.4:c.401T>C NP_002377.4:p.Phe134Ser NC_000016.10:89919658:T:C p.(Phe134Ser) NC_000016.10:89919658:T:C p.(Phe134Ser) NC_000016.10:89919658:T:C Identity +NM_000109.4:c.3472C>G NP_000100.3:p.Leu1158Val NC_000023.11:32454768:G:C p.(Leu1158Val) NC_000023.11:32454768:G:C p.(Leu1158Val) NC_000023.11:32454768:G:C Identity +NM_000639.3:c.259T>C NP_000630.1:p.Phe87Leu NC_000001.11:172659459:T:C p.(Phe87Leu) NC_000001.11:172659459:T:C p.(Phe87Leu) NC_000001.11:172659459:T:C Identity +NM_001347839.2:c.4732C>T NP_001334768.1:p.Gln1578Ter NC_000012.12:45852854:C:T p.(Gln1578Ter) NC_000012.12:45852854:C:T p.(Gln1578Ter) NC_000012.12:45852854:C:T Identity +NM_000256.3:c.3514T>C NP_000247.2:p.Tyr1172His NC_000011.10:47332678:A:G p.(Tyr1172His) NC_000011.10:47332678:A:G p.(Tyr1172His) NC_000011.10:47332678:A:G Identity +NM_000051.4:c.167A>C NP_000042.3:p.Asn56Thr NC_000011.10:108227869:A:C p.(Asn56Thr) NC_000011.10:108227869:A:C p.(Asn56Thr) NC_000011.10:108227869:A:C Identity +NM_001008844.3:c.286G>A NP_001008844.1:p.Gly96Arg NC_000006.12:7558127:G:A p.(Gly96Arg) NC_000006.12:7558127:G:A p.(Gly96Arg) NC_000006.12:7558127:G:A Identity +NM_024334.3:c.929G>T NP_077310.1:p.Gly310Val NC_000003.12:14139225:G:T p.(Gly310Val) NC_000003.12:14139225:G:T p.(Gly310Val) NC_000003.12:14139225:G:T Identity +NM_000527.5:c.1306G>A NP_000518.1:p.Val436Met NC_000019.10:11113396:G:A p.(Val436Met) NC_000019.10:11113396:G:A p.(Val436Met) NC_000019.10:11113396:G:A Identity +NM_000218.3:c.2020G>A NP_000209.2:p.Glu674Lys NC_000011.10:2847991:G:A p.(Glu674Lys) NC_000011.10:2847991:G:A p.(Glu674Lys) NC_000011.10:2847991:G:A Identity +NM_001354798.2:c.587T>C NP_001341727.1:p.Leu196Pro NC_000003.12:39391982:T:C p.(Leu196Pro) NC_000003.12:39391982:T:C p.(Leu196Pro) NC_000003.12:39391982:T:C Identity +NM_001194937.2:c.3094C>T NP_001181866.1:p.Gln1032Ter NC_000001.11:151405913:G:A p.(Gln1032Ter) NC_000001.11:151405913:G:A p.(Gln1032Ter) NC_000001.11:151405913:G:A Identity +NM_005787.6:c.72G>A NP_005778.1:p.Trp24Ter NC_000003.12:184248868:C:T p.(Trp24Ter) NC_000003.12:184248868:C:T p.(Trp24Ter) NC_000003.12:184248868:C:T Identity +NM_000059.4:c.1273del NP_000050.3:p.Glu425fs NC_000013.11:32332750:G: p.(Glu425LysfsTer5) NC_000013.11:32332750:G: p.(Glu425LysfsTer5) NC_000013.11:32332750:G: Analogous +NM_000527.5:c.1575T>A NP_000518.1:p.Asp525Glu NC_000019.10:11113750:T:A p.(Asp525Glu) NC_000019.10:11113750:T:A p.(Asp525Glu) NC_000019.10:11113750:T:A Identity +NM_001346279.2:c.74C>G NP_001333208.1:p.Pro25Arg NC_000011.10:10752699:C:G p.(Pro25Arg) NC_000011.10:10752699:C:G p.(Pro25Arg) NC_000011.10:10752699:C:G Identity +NM_001354768.3:c.703C>T NP_001341697.1:p.Leu235Phe NC_000014.9:24081246:G:A p.(Leu235Phe) NC_000014.9:24081246:G:A p.(Leu235Phe) NC_000014.9:24081246:G:A Identity +NM_000755.5:c.1870G>C NP_000746.3:p.Ala624Pro NC_000009.12:129095407:C:G p.(Ala624Pro) NC_000009.12:129095407:C:G p.(Ala624Pro) NC_000009.12:129095407:C:G Identity +NM_001207047.3:c.929T>C NP_001193976.1:p.Ile310Thr NC_000020.11:3560734:T:C p.(Ile310Thr) NC_000020.11:3560734:T:C p.(Ile310Thr) NC_000020.11:3560734:T:C Identity +NM_001029882.3:c.2803G>A NP_001025053.1:p.Ala935Thr NC_000001.11:27549312:C:T p.(Ala935Thr) NC_000001.11:27549312:C:T p.(Ala935Thr) NC_000001.11:27549312:C:T Identity +NM_000384.3:c.49CTG[5] NP_000375.3:p.Leu22del NC_000002.12:21043879:CAGCAGCAGCAGCAGCAGC:CAGCAGCAGCAGCAGC p.(Leu22del) NC_000002.12:21043896:G:CAGCAGCAGCAGCAG ERR:Parse ERR:Parse Identity +NM_001081640.2:c.3730dup NP_001075109.1:p.Leu1244fs NC_000008.11:47893255:GG:GGG p.(Leu1244ProfsTer42) NC_000008.11:47893255:GG:GGG p.(Leu1244ProfsTer42) ERR:SPDI Analogous +NM_018942.3:c.488A>C NP_061815.2:p.Glu163Ala NC_000004.12:8868251:T:G p.(Glu163Ala) NC_000004.12:8868251:T:G p.(Glu163Ala) NC_000004.12:8868251:T:G Identity +NM_001351782.2:c.1385A>G NP_001338711.1:p.Gln462Arg NC_000019.10:48211938:T:C p.(Gln462Arg) NC_000019.10:48211938:T:C p.(Gln462Arg) NC_000019.10:48211938:T:C Identity +NM_014252.4:c.683A>T NP_055067.1:p.Tyr228Phe NC_000013.11:40808497:A:T p.(Tyr228Phe) NC_000013.11:40808497:A:T p.(Tyr228Phe) NC_000013.11:40808497:A:T Identity +NM_030930.4:c.888dup NP_112192.2:p.Phe297fs NC_000011.10:67997692:GG:GGG p.(Phe297LeufsTer41) NC_000011.10:67997692:GG:GGG p.(Phe297LeufsTer41) ERR:SPDI Analogous +NM_000527.5:c.2442del NP_000518.1:p.Lys816fs NC_000019.10:11129563:GG:G p.(Lys816ArgfsTer113) NC_000019.10:11129563:GG:G p.(Lys816ArgfsTer113) NC_000019.10:11129564:G: Analogous +NM_001145102.2:c.7C>A NP_001138574.1:p.Leu3Met NC_000015.10:67165009:C:A p.(Leu3Met) NC_000015.10:67165009:C:A p.(Leu3Met) NC_000015.10:67165009:C:A Identity +NM_001257374.3:c.46A>G NP_001244303.1:p.Ile16Val NC_000001.11:156130641:A:G p.(Ile16Val) NC_000001.11:156130641:A:G p.(Ile16Val) NC_000001.11:156130641:A:G Identity +NM_001365135.2:c.1297C>A NP_001352064.1:p.Pro433Thr NC_000011.10:6393983:C:A p.(Pro433Thr) NC_000011.10:6393983:C:A p.(Pro433Thr) NC_000011.10:6393983:C:A Identity +NM_052845.4:c.462G>T NP_443077.1:p.Glu154Asp NC_000012.12:109561476:C:A p.(Glu154Asp) NC_000012.12:109561476:C:A p.(Glu154Asp) NC_000012.12:109561476:C:A Identity +NM_001256849.1:c.2816C>G NP_001243778.1:p.Ser939Trp NC_000019.10:50415821:C:G p.(Ser939Trp) NC_000019.10:50415821:C:G p.(Ser939Trp) NC_000019.10:50415821:C:G Identity +NM_005585.5:c.791A>G NP_005576.3:p.Tyr264Cys NC_000015.10:66704048:A:G p.(Tyr264Cys) NC_000015.10:66704048:A:G p.(Tyr264Cys) NC_000015.10:66704048:A:G Identity +NM_005585.5:c.1010G>A NP_005576.3:p.Trp337Ter NC_000015.10:66781053:G:A p.(Trp337Ter) NC_000015.10:66781053:G:A p.(Trp337Ter) NC_000015.10:66781053:G:A Identity +NM_000038.6:c.596C>G NP_000029.2:p.Ala199Gly NC_000005.10:112780853:C:G p.(Ala199Gly) NC_000005.10:112780853:C:G p.(Ala199Gly) NC_000005.10:112780853:C:G Identity +NM_000251.3:c.1325A>T NP_000242.1:p.Asp442Val NC_000002.12:47445595:A:T p.(Asp442Val) NC_000002.12:47445595:A:T p.(Asp442Val) NC_000002.12:47445595:A:T Identity +NM_001407240.1:c.1253C>A NP_001394169.1:p.Thr418Asn NC_000001.11:55057463:C:A p.(Thr418Asn) NC_000001.11:55057463:C:A p.(Thr418Asn) NC_000001.11:55057463:C:A Identity +NM_001145845.2:c.3686A>G NP_001139317.1:p.Glu1229Gly NC_000003.12:78617930:T:C p.(Glu1229Gly) NC_000003.12:78617930:T:C p.(Glu1229Gly) NC_000003.12:78617930:T:C Identity +NM_012134.3:c.1769T>C NP_036266.2:p.Leu590Pro NC_000001.11:201899243:A:G p.(Leu590Pro) NC_000001.11:201899243:A:G p.(Leu590Pro) NC_000001.11:201899243:A:G Identity +NM_022168.4:c.1852C>T NP_071451.2:p.Arg618Ter NC_000002.12:162277606:G:A p.(Arg618Ter) NC_000002.12:162277606:G:A p.(Arg618Ter) NC_000002.12:162277606:G:A Identity +NM_024334.3:c.631C>G NP_077310.1:p.Leu211Val NC_000003.12:14134816:C:G p.(Leu211Val) NC_000003.12:14134816:C:G p.(Leu211Val) NC_000003.12:14134816:C:G Identity +NM_001040113.2:c.949C>T NP_001035202.1:p.Leu317Phe NC_000016.10:15771673:G:A p.(Leu317Phe) NC_000016.10:15771673:G:A p.(Leu317Phe) NC_000016.10:15771673:G:A Identity +NM_001040633.2:c.163C>T NP_001035723.1:p.Pro55Ser NC_000007.14:151781322:G:A p.(Pro55Ser) NC_000007.14:151781322:G:A p.(Pro55Ser) NC_000007.14:151781322:G:A Identity +NM_001035.3:c.1698A>C NP_001026.2:p.Glu566Asp NC_000001.11:237469176:A:C p.(Glu566Asp) NC_000001.11:237469176:A:C p.(Glu566Asp) NC_000001.11:237469176:A:C Identity +NM_000051.4:c.3023del NP_000042.3:p.Ser1008fs NC_000011.10:108271351:C: p.(Ser1008LeufsTer14) NC_000011.10:108271351:C: p.(Ser1008LeufsTer14) NC_000011.10:108271351:C: Analogous +NM_017875.4:c.672delinsTT NP_060345.2:p.Ile225fs NC_000003.12:39394455:G:TT p.(Ile225TyrfsTer70) NC_000003.12:39394453:GGG:GGTT p.(Ile225TyrfsTer70) NC_000003.12:39394455:G:TT Analogous +NM_001393501.1:c.1639G>A NP_001380430.1:p.Gly547Ser NC_000019.10:18134621:G:A p.(Gly547Ser) NC_000019.10:18134621:G:A p.(Gly547Ser) NC_000019.10:18134621:G:A Identity +NM_020361.5:c.799G>A NP_065094.3:p.Gly267Arg NC_000008.11:67483806:C:T p.(Gly267Arg) NC_000008.11:67483806:C:T p.(Gly267Arg) NC_000008.11:67483806:C:T Identity +NM_153252.5:c.4339C>T NP_694984.5:p.Arg1447Trp NC_000023.11:80682522:G:A p.(Arg1447Trp) NC_000023.11:80682522:G:A p.(Arg1447Trp) NC_000023.11:80682522:G:A Identity +NM_032427.4:c.1782GCA[12] NP_115803.1:p.Gln621del NC_000011.10:96092210:TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG p.(Gln621del) NC_000011.10:96092248:C:TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC ERR:Parse ERR:Parse Identity +NM_003737.4:c.482G>A NP_003728.1:p.Arg161His NC_000011.10:6641131:C:T p.(Arg161His) NC_000011.10:6641131:C:T p.(Arg161His) NC_000011.10:6641131:C:T Identity +NM_000540.3:c.5915A>T NP_000531.2:p.Asn1972Ile NC_000019.10:38490175:A:T p.(Asn1972Ile) NC_000019.10:38490175:A:T p.(Asn1972Ile) NC_000019.10:38490175:A:T Identity +NM_000322.5:c.664T>A NP_000313.2:p.Cys222Ser NC_000006.12:42704528:A:T p.(Cys222Ser) NC_000006.12:42704528:A:T p.(Cys222Ser) NC_000006.12:42704528:A:T Identity +NM_001081637.3:c.1879G>A NP_001075106.2:p.Glu627Lys NC_000019.10:54636797:G:A p.(Glu627Lys) NC_000019.10:54636797:G:A p.(Glu627Lys) NC_000019.10:54636797:G:A Identity +NM_000059.4:c.2533_2534delinsGA NP_000050.3:p.Pro845Asp NC_000013.11:32336887:CC:GA p.(Pro845Asp) NC_000013.11:32336887:CC:GA p.(Pro845Asp) NC_000013.11:32336887:CC:GA Identity +NM_000038.6:c.779A>G NP_000029.2:p.Gln260Arg NC_000005.10:112801327:A:G p.(Gln260Arg) NC_000005.10:112801327:A:G p.(Gln260Arg) NC_000005.10:112801327:A:G Identity +NM_004656.4:c.1003G>C NP_004647.1:p.Val335Leu NC_000003.12:52405222:C:G p.(Val335Leu) NC_000003.12:52405222:C:G p.(Val335Leu) NC_000003.12:52405222:C:G Identity +NM_024334.3:c.718C>A NP_077310.1:p.Arg240Ser NC_000003.12:14135169:C:A p.(Arg240Ser) NC_000003.12:14135169:C:A p.(Arg240Ser) NC_000003.12:14135169:C:A Identity +NM_001354798.2:c.562G>C NP_001341727.1:p.Asp188His NC_000003.12:39391957:G:C p.(Asp188His) NC_000003.12:39391957:G:C p.(Asp188His) NC_000003.12:39391957:G:C Identity +NM_001164673.2:c.707del NP_001158145.1:p.Thr236fs NC_000004.12:3489741:C: p.(Thr236LysfsTer266) NC_000004.12:3489741:C: p.(Thr236LysfsTer266) NC_000004.12:3489741:C: Analogous +NM_001286457.2:c.1177_1195del NP_001273386.2:p.Phe393fs NC_000016.10:8908368:TCTGAGGGTCATACATAAATCT:TCT p.(Phe393ArgfsTer55) NC_000016.10:8908368:TCTGAGGGTCATACATAAATCT:TCT p.(Phe393ArgfsTer55) NC_000016.10:8908368:TCTGAGGGTCATACATAAA: Analogous +NM_000328.3:c.1481G>T NP_000319.1:p.Gly494Val NC_000023.11:38291417:C:A p.(Gly494Val) NC_000023.11:38291417:C:A p.(Gly494Val) NC_000023.11:38291417:C:A Identity +NM_000552.5:c.6963del NP_000543.3:p.Glu2322fs NC_000012.12:5985057:GGGG:GGG p.(Glu2322SerfsTer9) NC_000012.12:5985057:GGGG:GGG p.(Glu2322SerfsTer9) NC_000012.12:5985057:G: Analogous +NM_001407928.1:c.4378_4379dup NP_001394857.1:p.Thr1461Lysfs NC_000017.11:43074359:TC:TCTC p.(Thr1461LysfsTer10) NC_000017.11:43074359:TC:TCTC p.(Thr1461LysfsTer10) ERR:SPDI Analogous +NM_001256850.1:c.15625A>C NP_001243779.1:p.Asn5209His NC_000002.12:178732484:T:G p.(Asn5209His) NC_000002.12:178732484:T:G p.(Asn5209His) NC_000002.12:178732484:T:G Identity +NM_001347997.2:c.1210A>G NP_001334926.1:p.Met404Val NC_000009.12:106925121:A:G p.(Met404Val) NC_000009.12:106925121:A:G p.(Met404Val) NC_000009.12:106925121:A:G Identity +NM_001008211.1:c.1400A>C NP_001008212.1:p.Gln467Pro NC_000010.11:13127901:A:C p.(Gln467Pro) NC_000010.11:13127901:A:C p.(Gln467Pro) NC_000010.11:13127901:A:C Identity +NM_001025076.2:c.616C>T NP_001020247.1:p.Gln206Ter NC_000010.11:11270755:C:T p.(Gln206Ter) NC_000010.11:11270755:C:T p.(Gln206Ter) NC_000010.11:11270755:C:T Identity +NM_001184896.1:c.980T>C NP_001171825.1:p.Met327Thr NC_000023.11:54011195:A:G p.(Met327Thr) NC_000023.11:54011195:A:G p.(Met327Thr) NC_000023.11:54011195:A:G Identity +NM_001130145.3:c.1024A>G NP_001123617.1:p.Lys342Glu NC_000011.10:102209555:A:G p.(Lys342Glu) NC_000011.10:102209555:A:G p.(Lys342Glu) NC_000011.10:102209555:A:G Identity +NM_001348181.2:c.4619G>A NP_001335110.1:p.Arg1540His NC_000002.12:24208253:C:T p.(Arg1540His) NC_000002.12:24208253:C:T p.(Arg1540His) NC_000002.12:24208253:C:T Identity +NM_001256850.1:c.12243A>C NP_001243779.1:p.Gln4081His NC_000002.12:178740038:T:G p.(Gln4081His) NC_000002.12:178740038:T:G p.(Gln4081His) NC_000002.12:178740038:T:G Identity +NM_001382235.1:c.2457del NP_001369164.1:p.Phe820fs NC_000020.11:63406859:GG:G p.(Phe820SerfsTer128) NC_000020.11:63406859:GG:G p.(Phe820SerfsTer128) NC_000020.11:63406859:G: Analogous +NM_198525.3:c.918C>G NP_940927.2:p.Ile306Met NC_000015.10:89648978:G:C p.(Ile306Met) NC_000015.10:89648978:G:C p.(Ile306Met) NC_000015.10:89648978:G:C Identity +NM_001349370.3:c.2171_2172del NP_001336299.1:p.Val724fs NC_000003.12:47122331:CACA:CA p.(Val724GlyfsTer8) NC_000003.12:47122331:CACA:CA p.(Val724GlyfsTer8) NC_000003.12:47122331:CA: Analogous +NM_001005360.3:c.2332C>T NP_001005360.1:p.Pro778Ser NC_000019.10:10830166:C:T p.(Pro778Ser) NC_000019.10:10830166:C:T p.(Pro778Ser) NC_000019.10:10830166:C:T Identity +NM_001127215.3:c.1235G>C NP_001120687.1:p.Arg412Pro NC_000001.11:92476062:C:G p.(Arg412Pro) NC_000001.11:92476062:C:G p.(Arg412Pro) NC_000001.11:92476062:C:G Identity +NM_000199.5:c.1244C>G NP_000190.1:p.Thr415Ser NC_000017.11:80210716:G:C p.(Thr415Ser) NC_000017.11:80210716:G:C p.(Thr415Ser) NC_000017.11:80210716:G:C Identity +NM_020338.4:c.2687A>G NP_065071.1:p.His896Arg NC_000010.11:79307422:A:G p.(His896Arg) NC_000010.11:79307422:A:G p.(His896Arg) NC_000010.11:79307422:A:G Identity +NM_001386339.1:c.2173C>A NP_001373268.1:p.Pro725Thr NC_000011.10:9856647:G:T p.(Pro725Thr) NC_000011.10:9856647:G:T p.(Pro725Thr) NC_000011.10:9856647:G:T Identity +NM_032551.5:c.735del NP_115940.2:p.Gln246fs NC_000019.10:920102:G: p.(Gln246ArgfsTer73) NC_000019.10:920102:G: p.(Gln246ArgfsTer73) NC_000019.10:920102:G: Analogous +NM_207421.4:c.286G>A NP_997304.3:p.Ala96Thr NC_000001.11:17373224:G:A p.(Ala96Thr) NC_000001.11:17373224:G:A p.(Ala96Thr) NC_000001.11:17373224:G:A Identity +NM_170606.3:c.13789C>T NP_733751.2:p.Arg4597Cys NC_000007.14:152148137:G:A p.(Arg4597Cys) NC_000007.14:152148137:G:A p.(Arg4597Cys) NC_000007.14:152148137:G:A Identity +NM_153252.5:c.4786A>C NP_694984.5:p.Lys1596Gln NC_000023.11:80677231:T:G p.(Lys1596Gln) NC_000023.11:80677231:T:G p.(Lys1596Gln) NC_000023.11:80677231:T:G Identity +NM_001306219.3:c.488C>G NP_001293148.1:p.Ser163Ter NC_000015.10:57234069:C:G p.(Ser163Ter) NC_000015.10:57234069:C:G p.(Ser163Ter) NC_000015.10:57234069:C:G Identity +NM_001199893.2:c.313C>T NP_001186822.1:p.Arg105Cys NC_000002.12:73909129:C:T p.(Arg105Cys) NC_000002.12:73909129:C:T p.(Arg105Cys) NC_000002.12:73909129:C:T Identity +NM_001101.5:c.70G>A NP_001092.1:p.Asp24Asn NC_000007.14:5529587:C:T p.(Asp24Asn) NC_000007.14:5529587:C:T p.(Asp24Asn) NC_000007.14:5529587:C:T Identity +NM_000263.4:c.942del NP_000254.2:p.Phe314fs NC_000017.11:42541126:C: p.(Phe314LeufsTer25) NC_000017.11:42541126:C: p.(Phe314LeufsTer25) NC_000017.11:42541126:C: Analogous +NM_001293735.2:c.150G>C NP_001280664.1:p.Lys50Asn NC_000005.10:131182286:G:C p.(Lys50Asn) NC_000005.10:131182286:G:C p.(Lys50Asn) NC_000005.10:131182286:G:C Identity +NM_000152.5:c.1069G>A NP_000143.2:p.Val357Ile NC_000017.11:80108402:G:A p.(Val357Ile) NC_000017.11:80108402:G:A p.(Val357Ile) NC_000017.11:80108402:G:A Identity +NM_017802.4:c.293A>G NP_060272.3:p.His98Arg NC_000007.14:727012:A:G p.(His98Arg) NC_000007.14:727012:A:G p.(His98Arg) NC_000007.14:727012:A:G Identity +NM_000391.4:c.824T>G NP_000382.3:p.Leu275Arg NC_000011.10:6616722:A:C p.(Leu275Arg) NC_000011.10:6616722:A:C p.(Leu275Arg) NC_000011.10:6616722:A:C Identity +NM_001178003.2:c.185G>A NP_001171474.1:p.Gly62Glu NC_000012.12:121921489:G:A p.(Gly62Glu) NC_000012.12:121921489:G:A p.(Gly62Glu) NC_000012.12:121921489:G:A Identity +NM_001375397.1:c.105G>A NP_001362326.1:p.Met35Ile NC_000006.12:53037989:C:T p.(Met35Ile) NC_000006.12:53037989:C:T p.(Met35Ile) NC_000006.12:53037989:C:T Identity +NM_000108.5:c.163G>A NP_000099.2:p.Val55Ile NC_000007.14:107901781:G:A p.(Val55Ile) NC_000007.14:107901781:G:A p.(Val55Ile) NC_000007.14:107901781:G:A Identity +NM_000021.4:c.1247T>C NP_000012.1:p.Ile416Thr NC_000014.9:73217242:T:C p.(Ile416Thr) NC_000014.9:73217242:T:C p.(Ile416Thr) NC_000014.9:73217242:T:C Identity +NM_000535.7:c.525del NP_000526.2:p.Asn176fs NC_000007.14:6002464:CC:C p.(Asn176IlefsTer25) NC_000007.14:6002464:CC:C p.(Asn176IlefsTer25) NC_000007.14:6002464:C: Analogous +NM_001142864.4:c.6211T>C NP_001136336.2:p.Cys2071Arg NC_000016.10:88719913:A:G p.(Cys2071Arg) NC_000016.10:88719913:A:G p.(Cys2071Arg) NC_000016.10:88719913:A:G Identity +NM_001272037.2:c.329C>T NP_001258966.1:p.Pro110Leu NC_000021.9:44533693:G:A p.(Pro110Leu) NC_000021.9:44533693:G:A p.(Pro110Leu) NC_000021.9:44533693:G:A Identity +NM_001353210.3:c.1091_1094del NP_001340139.1:p.Tyr364fs NC_000018.10:49282024:ATGTATGT:ATGT p.(Tyr364CysfsTer34) NC_000018.10:49282024:ATGTATGT:ATGT p.(Tyr364CysfsTer34) NC_000018.10:49282024:ATGT: Analogous +NM_007123.6:c.2944dup NP_009054.6:p.Cys982fs NC_000001.11:216232001:AA:AAA p.(Cys982LeufsTer2) NC_000001.11:216232001:AA:AAA p.(Cys982LeufsTer2) ERR:SPDI Analogous +NM_001256850.1:c.102069del NP_001243779.1:p.Lys34024fs NC_000002.12:178528758:G: p.(Lys34024SerfsTer14) NC_000002.12:178528758:G: p.(Lys34024SerfsTer14) NC_000002.12:178528758:G: Analogous +NM_001193640.2:c.548G>A NP_001180569.1:p.Cys183Tyr NC_000001.11:197328898:G:A p.(Cys183Tyr) NC_000001.11:197328898:G:A p.(Cys183Tyr) NC_000001.11:197328898:G:A Identity +NM_001177310.2:c.3679del NP_001170781.1:p.Gln1227fs NC_000009.12:74762976:G: p.(Gln1227LysfsTer31) NC_000009.12:74762976:G: p.(Gln1227LysfsTer31) NC_000009.12:74762976:G: Analogous +NM_001365276.2:c.5746A>G NP_001352205.1:p.Thr1916Ala NC_000006.12:32068977:T:C p.(Thr1916Ala) NC_000006.12:32068977:T:C p.(Thr1916Ala) NC_000006.12:32068977:T:C Identity +NM_001166247.1:c.1979C>G NP_001159719.1:p.Thr660Arg NC_000006.12:101928525:C:G p.(Thr660Arg) NC_000006.12:101928525:C:G p.(Thr660Arg) NC_000006.12:101928525:C:G Identity +NM_000297.4:c.1116dup NP_000288.1:p.Asp373fs NC_000004.12:88043249:AAAAA:AAAAAA p.(Asp373ArgfsTer5) NC_000004.12:88043249:AAAAA:AAAAAA p.(Asp373ArgfsTer5) ERR:SPDI Analogous +NM_001077397.1:c.522G>C NP_001070865.1:p.Gln174His NC_000001.11:234608972:C:G p.(Gln174His) NC_000001.11:234608972:C:G p.(Gln174His) NC_000001.11:234608972:C:G Identity +NM_001013838.3:c.520C>T NP_001013860.1:p.Arg174Ter NC_000016.10:67646766:C:T p.(Arg174Ter) NC_000016.10:67646766:C:T p.(Arg174Ter) NC_000016.10:67646766:C:T Identity +NM_001001329.3:c.564_567del NP_001001329.1:p.Glu189fs NC_000019.10:11442474:AGAGAGAGAG:AGAGAG p.(Glu189ProfsTer42) NC_000019.10:11442474:AGAGAGAGAG:AGAGAG p.(Glu189ProfsTer42) NC_000019.10:11442480:AGAG: Analogous +NM_000781.3:c.358del NP_000772.2:p.Arg120fs NC_000015.10:74347966:G: p.(Arg120AspfsTer18) NC_000015.10:74347966:G: p.(Arg120AspfsTer18) NC_000015.10:74347966:G: Analogous +NM_001321148.2:c.713dup NP_001308077.1:p.Glu239fs NC_000017.11:75488825:GGGG:GGGGG p.(Glu239ArgfsTer19) NC_000017.11:75488825:GGGG:GGGGG p.(Glu239ArgfsTer19) ERR:SPDI Analogous +NM_001280787.1:c.40_41del NP_001267716.1:p.Arg14fs NC_000009.12:133353895:CT: p.(Arg14GlyfsTer4) NC_000009.12:133353895:CT: p.(Arg14GlyfsTer4) NC_000009.12:133353895:CT: Analogous +NM_001039885.3:c.1034G>C NP_001034974.1:p.Gly345Ala NC_000019.10:46756483:G:C p.(Gly345Ala) NC_000019.10:46756483:G:C p.(Gly345Ala) NC_000019.10:46756483:G:C Identity +LRG_1017t1:c.1093_1103del LRG_1017p1:p.Val365fs NC_000023.11:153736121:CGTGAAGAAGGC:C ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found ERR:AlignmentMapper(tx_ac=LRG_1017t1, alt_ac=LRG_1017t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1017t1, alt_ac=LRG_1017t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found +NM_001195226.2:c.1087A>G NP_001182155.2:p.Asn363Asp NC_000022.11:18918331:T:C p.(Asn363Asp) NC_000022.11:18918331:T:C p.(Asn363Asp) NC_000022.11:18918331:T:C Identity +NM_002775.5:c.820C>G NP_002766.1:p.Arg274Gly NC_000010.11:122506732:C:G p.(Arg274Gly) NC_000010.11:122506732:C:G p.(Arg274Gly) NC_000010.11:122506732:C:G Identity +NM_001145661.2:c.1085G>C NP_001139133.1:p.Arg362Pro NC_000003.12:128481876:C:G p.(Arg362Pro) NC_000003.12:128481876:C:G p.(Arg362Pro) NC_000003.12:128481876:C:G Identity +NM_000157.4:c.1255G>A NP_000148.2:p.Asp419Asn NC_000001.11:155235813:C:T p.(Asp419Asn) NC_000001.11:155235813:C:T p.(Asp419Asn) NC_000001.11:155235813:C:T Identity +NM_002968.3:c.424G>C NP_002959.2:p.Gly142Arg NC_000016.10:51141797:C:G p.(Gly142Arg) NC_000016.10:51141797:C:G p.(Gly142Arg) NC_000016.10:51141797:C:G Identity +NM_015721.3:c.3097C>T NP_056536.2:p.Arg1033Cys NC_000017.11:744945:G:A p.(Arg1033Cys) NC_000017.11:744945:G:A p.(Arg1033Cys) NC_000017.11:744945:G:A Identity +NM_004656.4:c.1514C>A NP_004647.1:p.Ser505Ter NC_000003.12:52403630:G:T p.(Ser505Ter) NC_000003.12:52403630:G:T p.(Ser505Ter) NC_000003.12:52403630:G:T Identity +NM_000475.5:c.797T>C NP_000466.2:p.Leu266Pro NC_000023.11:30308566:A:G p.(Leu266Pro) NC_000023.11:30308566:A:G p.(Leu266Pro) NC_000023.11:30308566:A:G Identity +NM_000260.4:c.4972C>T NP_000251.3:p.Gln1658Ter NC_000011.10:77201566:C:T p.(Gln1658Ter) NC_000011.10:77201566:C:T p.(Gln1658Ter) NC_000011.10:77201566:C:T Identity +NM_001039213.4:c.763A>G NP_001034302.2:p.Arg255Gly NC_000019.10:44705690:A:G p.(Arg255Gly) NC_000019.10:44705690:A:G p.(Arg255Gly) NC_000019.10:44705690:A:G Identity +NM_018082.6:c.79T>C NP_060552.4:p.Trp27Arg NC_000012.12:106363875:T:C p.(Trp27Arg) NC_000012.12:106363875:T:C p.(Trp27Arg) NC_000012.12:106363875:T:C Identity +NM_024306.5:c.798C>G NP_077282.3:p.Asp266Glu NC_000016.10:74716587:G:C p.(Asp266Glu) NC_000016.10:74716587:G:C p.(Asp266Glu) NC_000016.10:74716587:G:C Identity +NM_001386339.1:c.2215G>A NP_001373268.1:p.Glu739Lys NC_000011.10:9856605:C:T p.(Glu739Lys) NC_000011.10:9856605:C:T p.(Glu739Lys) NC_000011.10:9856605:C:T Identity +NM_001318827.2:c.3283dup NP_001305756.1:p.Val1095fs NC_000016.10:2080287:GGG:GGGG p.(Val1095GlyfsTer59) NC_000016.10:2080287:GGG:GGGG p.(Val1095GlyfsTer59) ERR:SPDI Analogous +NM_000685.5:c.696_700del NP_000676.1:p.Pro233fs NC_000003.12:148741727:CAAACCAA:CAA p.(Pro233LysfsTer2) NC_000003.12:148741727:CAAACCAA:CAA p.(Pro233LysfsTer2) NC_000003.12:148741730:ACCAA: Analogous +NM_001024630.4:c.1081C>T NP_001019801.3:p.Gln361Ter NC_000006.12:45545275:C:T p.(Gln361Ter) NC_000006.12:45545275:C:T p.(Gln361Ter) NC_000006.12:45545275:C:T Identity +NM_001003652.4:c.587A>G NP_001003652.1:p.Tyr196Cys NC_000018.10:47868390:T:C p.(Tyr196Cys) NC_000018.10:47868390:T:C p.(Tyr196Cys) NC_000018.10:47868390:T:C Identity +NM_001256182.2:c.7556A>T NP_001243111.1:p.His2519Leu NC_000016.10:89275105:T:A p.(His2519Leu) NC_000016.10:89275105:T:A p.(His2519Leu) NC_000016.10:89275105:T:A Identity +NM_000827.4:c.244G>C NP_000818.2:p.Val82Leu NC_000005.10:153646950:G:C p.(Val82Leu) NC_000005.10:153646950:G:C p.(Val82Leu) NC_000005.10:153646950:G:C Identity +NM_018429.3:c.3839C>G NP_060899.2:p.Ala1280Gly NC_000005.10:71510930:C:G p.(Ala1280Gly) NC_000005.10:71510930:C:G p.(Ala1280Gly) NC_000005.10:71510930:C:G Identity +NM_001257199.2:c.521T>C NP_001244128.1:p.Val174Ala NC_000012.12:50106894:T:C p.(Val174Ala) NC_000012.12:50106894:T:C p.(Val174Ala) NC_000012.12:50106894:T:C Identity +NM_001256850.1:c.62128G>T NP_001243779.1:p.Val20710Leu NC_000002.12:178580327:C:A p.(Val20710Leu) NC_000002.12:178580327:C:A p.(Val20710Leu) NC_000002.12:178580327:C:A Identity +NM_001347839.2:c.1262_1265dup NP_001334768.1:p.Tyr423fs NC_000012.12:45837638:TGCT:TGCTTGCT p.(Tyr423AlafsTer39) NC_000012.12:45837638:TGCT:TGCTTGCT p.(Tyr423AlafsTer39) ERR:SPDI Analogous +NM_001128844.3:c.2738C>T NP_001122316.1:p.Pro913Leu NC_000019.10:11021845:C:T p.(Pro913Leu) NC_000019.10:11021845:C:T p.(Pro913Leu) NC_000019.10:11021845:C:T Identity +NM_000321.3:c.1510del NP_000312.2:p.Gln504fs NC_000013.11:48381257:C: p.(Gln504ArgfsTer15) NC_000013.11:48381257:C: p.(Gln504ArgfsTer15) NC_000013.11:48381257:C: Analogous +NM_002016.2:c.8297G>A NP_002007.1:p.Arg2766His NC_000001.11:152306588:C:T p.(Arg2766His) NC_000001.11:152306588:C:T p.(Arg2766His) NC_000001.11:152306588:C:T Identity +NM_001316690.1:c.1754A>G NP_001303619.1:p.Asn585Ser NC_000008.11:60862265:A:G p.(Asn585Ser) NC_000008.11:60862265:A:G p.(Asn585Ser) NC_000008.11:60862265:A:G Identity +NM_001080976.3:c.645G>A NP_001074445.1:p.Thr215= NC_000006.12:116426801:G:A p.(Thr215=) NC_000006.12:116426801:G:A p.(Thr215=) NC_000006.12:116426801:G:A Identity +NM_032888.4:c.1160del NP_116277.2:p.Pro387fs NC_000009.12:114168713:CC:C p.(Pro387LeufsTer71) NC_000009.12:114168713:CC:C p.(Pro387LeufsTer71) NC_000009.12:114168714:C: Analogous +NM_001129765.2:c.1073C>G NP_001123237.1:p.Ala358Gly NC_000023.11:152869066:C:G p.(Ala358Gly) NC_000023.11:152869066:C:G p.(Ala358Gly) NC_000023.11:152869066:C:G Identity +NM_001999.4:c.6973C>T NP_001990.2:p.Pro2325Ser NC_000005.10:128286756:G:A p.(Pro2325Ser) NC_000005.10:128286756:G:A p.(Pro2325Ser) NC_000005.10:128286756:G:A Identity +NM_001362843.2:c.3764G>A NP_001349772.1:p.Arg1255Gln NC_000022.11:41166633:G:A p.(Arg1255Gln) NC_000022.11:41166633:G:A p.(Arg1255Gln) NC_000022.11:41166633:G:A Identity +NM_033109.5:c.1583G>A NP_149100.2:p.Arg528His NC_000002.12:55647365:C:T p.(Arg528His) NC_000002.12:55647365:C:T p.(Arg528His) NC_000002.12:55647365:C:T Identity +NM_001077186.2:c.2201G>A NP_001070654.1:p.Arg734His NC_000019.10:50259210:G:A p.(Arg734His) NC_000019.10:50259210:G:A p.(Arg734His) NC_000019.10:50259210:G:A Identity +NM_000051.4:c.3435T>G NP_000042.3:p.Asp1145Glu NC_000011.10:108281026:T:G p.(Asp1145Glu) NC_000011.10:108281026:T:G p.(Asp1145Glu) NC_000011.10:108281026:T:G Identity +NM_001349370.3:c.5817_5819del NP_001336299.1:p.Glu1941del NC_000003.12:47083828:TCTTC:TC p.(Glu1941del) NC_000003.12:47083828:TCTTC:TC p.(Glu1941del) NC_000003.12:47083828:TCT: Identity +NM_001145661.2:c.1113del NP_001139133.1:p.Asn371fs NC_000003.12:128481848:G: p.(Asn371LysfsTer16) NC_000003.12:128481848:G: p.(Asn371LysfsTer16) NC_000003.12:128481848:G: Analogous +NM_001145661.2:c.306del NP_001139133.1:p.Ala103fs NC_000003.12:128486291:TTT:TT p.(Ala103GlnfsTer16) NC_000003.12:128486291:TTT:TT p.(Ala103GlnfsTer16) NC_000003.12:128486291:T: Analogous +NM_001394028.1:c.215C>G NP_001380957.1:p.Thr72Arg NC_000017.11:43953162:G:C p.(Thr72Arg) NC_000017.11:43953162:G:C p.(Thr72Arg) NC_000017.11:43953162:G:C Identity +NM_016628.5:c.1141G>A NP_057712.2:p.Val381Met NC_000010.11:28608406:G:A p.(Val381Met) NC_000010.11:28608406:G:A p.(Val381Met) NC_000010.11:28608406:G:A Identity +NM_000243.3:c.1597_1598dup NP_000234.1:p.Asp533fs NC_000016.10:3246536:TCTC:TCTCTC p.(Asp533GlufsTer22) NC_000016.10:3246536:TCTC:TCTCTC p.(Asp533GlufsTer22) ERR:SPDI Analogous +NM_000296.4:c.272C>A NP_000287.4:p.Ser91Ter NC_000016.10:2119321:G:T p.(Ser91Ter) NC_000016.10:2119321:G:T p.(Ser91Ter) NC_000016.10:2119321:G:T Identity +NM_000296.4:c.12380_12384del NP_000287.4:p.Glu4127fs NC_000016.10:2090341:CATCTC:C p.(Glu4127GlyfsTer27) NC_000016.10:2090341:CATCTC:C p.(Glu4127GlyfsTer27) NC_000016.10:2090341:CATCT: Analogous +NM_001145661.2:c.416_417del NP_001139133.1:p.Ser139fs NC_000003.12:128486180:AGAGAG:AGAG p.(Ser139CysfsTer45) NC_000003.12:128486180:AGAGAG:AGAG p.(Ser139CysfsTer45) NC_000003.12:128486180:AG: Analogous +NM_020759.3:c.11233dup NP_065810.2:p.Leu3745fs NC_000015.10:42692808:CCC:CCCC p.(Leu3745ProfsTer9) NC_000015.10:42692808:CCC:CCCC p.(Leu3745ProfsTer9) ERR:SPDI Analogous +NM_005982.4:c.517A>C NP_005973.1:p.Lys173Gln NC_000014.9:60648672:T:G p.(Lys173Gln) NC_000014.9:60648672:T:G p.(Lys173Gln) NC_000014.9:60648672:T:G Identity +NM_001365276.2:c.2623G>A NP_001352205.1:p.Val875Ile NC_000006.12:32088940:C:T p.(Val875Ile) NC_000006.12:32088940:C:T p.(Val875Ile) NC_000006.12:32088940:C:T Identity +NM_001286075.2:c.1538G>A NP_001273004.1:p.Arg513Gln NC_000016.10:28900728:G:A p.(Arg513Gln) NC_000016.10:28900728:G:A p.(Arg513Gln) NC_000016.10:28900728:G:A Identity +NM_001165963.4:c.2425G>A NP_001159435.1:p.Gly809Arg NC_000002.12:166039586:C:T p.(Gly809Arg) NC_000002.12:166039586:C:T p.(Gly809Arg) NC_000002.12:166039586:C:T Identity +NM_001172643.1:c.218G>A NP_001166114.1:p.Arg73His NC_000016.10:66531443:C:T p.(Arg73His) NC_000016.10:66531443:C:T p.(Arg73His) NC_000016.10:66531443:C:T Identity +NM_001278055.2:c.6322del NP_001264984.1:p.Cys2108fs NC_000013.11:23337112:AAA:AA p.(Cys2108ValfsTer7) NC_000013.11:23337112:AAA:AA p.(Cys2108ValfsTer7) NC_000013.11:23337112:A: Analogous +NM_001018056.3:c.2382G>A NP_001018066.1:p.Trp794Ter NC_000009.12:2652828:G:A p.(Trp794Ter) NC_000009.12:2652828:G:A p.(Trp794Ter) NC_000009.12:2652828:G:A Identity +NM_007038.5:c.1841G>A NP_008969.2:p.Arg614His NC_000021.9:26932892:C:T p.(Arg614His) NC_000021.9:26932892:C:T p.(Arg614His) NC_000021.9:26932892:C:T Identity +NM_003482.4:c.16214G>A NP_003473.3:p.Arg5405His NC_000012.12:49022713:C:T p.(Arg5405His) NC_000012.12:49022713:C:T p.(Arg5405His) NC_000012.12:49022713:C:T Identity +NM_006767.4:c.26G>T NP_006758.2:p.Gly9Val NC_000022.11:20982396:G:T p.(Gly9Val) NC_000022.11:20982396:G:T p.(Gly9Val) NC_000022.11:20982396:G:T Identity +NM_001365276.2:c.1952T>C NP_001352205.1:p.Met651Thr NC_000006.12:32095900:A:G p.(Met651Thr) NC_000006.12:32095900:A:G p.(Met651Thr) NC_000006.12:32095900:A:G Identity +NM_007118.4:c.5699G>T NP_009049.2:p.Ser1900Ile NC_000005.10:14465575:G:T p.(Ser1900Ile) NC_000005.10:14465575:G:T p.(Ser1900Ile) NC_000005.10:14465575:G:T Identity +NM_001256269.2:c.1135G>A NP_001243198.1:p.Asp379Asn NC_000016.10:29802826:G:A p.(Asp379Asn) NC_000016.10:29802826:G:A p.(Asp379Asn) NC_000016.10:29802826:G:A Identity +NM_000256.3:c.1900del NP_000247.2:p.Val634fs NC_000011.10:47341029:CC:C p.(Val634SerfsTer29) NC_000011.10:47341029:CC:C p.(Val634SerfsTer29) NC_000011.10:47341029:C: Analogous +NM_000138.5:c.2106G>T NP_000129.3:p.Gln702His NC_000015.10:48503793:C:A p.(Gln702His) NC_000015.10:48503793:C:A p.(Gln702His) NC_000015.10:48503793:C:A Identity +NM_015721.3:c.2051G>A NP_056536.2:p.Arg684Gln NC_000017.11:745991:C:T p.(Arg684Gln) NC_000017.11:745991:C:T p.(Arg684Gln) NC_000017.11:745991:C:T Identity +NM_000495.5:c.1183C>T NP_000486.1:p.Pro395Ser NC_000023.11:108591074:C:T p.(Pro395Ser) NC_000023.11:108591074:C:T p.(Pro395Ser) NC_000023.11:108591074:C:T Identity +NM_000709.4:c.1074C>A NP_000700.1:p.Asp358Glu NC_000019.10:41423075:C:A p.(Asp358Glu) NC_000019.10:41423075:C:A p.(Asp358Glu) NC_000019.10:41423075:C:A Identity +NM_001008211.1:c.263T>C NP_001008212.1:p.Ile88Thr NC_000010.11:13110369:T:C p.(Ile88Thr) NC_000010.11:13110369:T:C p.(Ile88Thr) NC_000010.11:13110369:T:C Identity +NM_001367624.2:c.4507C>G NP_001354553.1:p.Leu1503Val NC_000016.10:88431976:C:G p.(Leu1503Val) NC_000016.10:88431976:C:G p.(Leu1503Val) NC_000016.10:88431976:C:G Identity +NM_153252.5:c.424A>C NP_694984.5:p.Asn142His NC_000023.11:80791859:T:G p.(Asn142His) NC_000023.11:80791859:T:G p.(Asn142His) NC_000023.11:80791859:T:G Identity +NM_000083.3:c.1243G>C NP_000074.3:p.Ala415Pro NC_000007.14:143332494:G:C p.(Ala415Pro) NC_000007.14:143332494:G:C p.(Ala415Pro) NC_000007.14:143332494:G:C Identity +LRG_14t1:c.1418G>A LRG_14p1:p.Arg473His NC_000023.11:153868688:C:T ERR:Data provider error: ValueError: Transcript LRG_14t1 not found ERR:Data provider error: ValueError: Transcript LRG_14t1 not found ERR:AlignmentMapper(tx_ac=LRG_14t1, alt_ac=LRG_14t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_14t1, alt_ac=LRG_14t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_14t1 not found +NM_006059.4:c.3124G>A NP_006050.3:p.Asp1042Asn NC_000009.12:131071537:G:A p.(Asp1042Asn) NC_000009.12:131071537:G:A p.(Asp1042Asn) NC_000009.12:131071537:G:A Identity +NM_001372044.2:c.1594G>A NP_001358973.1:p.Ala532Thr NC_000022.11:50697585:G:A p.(Ala532Thr) NC_000022.11:50697624:G:A p.(Ala532Thr) NC_000022.11:50697624:G:A Identity +NM_001042702.5:c.87C>A NP_001036167.1:p.Asp29Glu NC_000002.12:178453495:C:A p.(Asp29Glu) NC_000002.12:178453495:C:A p.(Asp29Glu) NC_000002.12:178453495:C:A Identity +NM_025114.4:c.5570T>C NP_079390.3:p.Leu1857Pro NC_000012.12:88077712:A:G p.(Leu1857Pro) NC_000012.12:88077712:A:G p.(Leu1857Pro) NC_000012.12:88077712:A:G Identity +NM_080680.3:c.1063C>T NP_542411.2:p.Arg355Cys NC_000006.12:33184200:G:A p.(Arg355Cys) NC_000006.12:33184200:G:A p.(Arg355Cys) NC_000006.12:33184200:G:A Identity +NM_001099222.3:c.371_372del NP_001092692.1:p.Gln124fs NC_000009.12:26984321:AA: p.(Gln124ArgfsTer9) NC_000009.12:26984321:AA: p.(Gln124ArgfsTer9) NC_000009.12:26984321:AA: Analogous +NM_001282534.2:c.565G>A NP_001269463.1:p.Ala189Thr NC_000008.11:139618817:C:T p.(Ala189Thr) NC_000008.11:139618817:C:T p.(Ala189Thr) NC_000008.11:139618817:C:T Identity +NM_001256182.2:c.619G>A NP_001243111.1:p.Glu207Lys NC_000016.10:89288652:C:T p.(Glu207Lys) NC_000016.10:89288652:C:T p.(Glu207Lys) NC_000016.10:89288652:C:T Identity +NM_001353210.3:c.931A>G NP_001340139.1:p.Lys311Glu NC_000018.10:49286445:T:C p.(Lys311Glu) NC_000018.10:49286445:T:C p.(Lys311Glu) NC_000018.10:49286445:T:C Identity +NM_001407894.1:c.154G>A NP_001394823.1:p.Val52Ile NC_000017.11:43104198:C:T p.(Val52Ile) NC_000017.11:43104198:C:T p.(Val52Ile) NC_000017.11:43104198:C:T Identity +NM_001316767.2:c.560C>T NP_001303696.1:p.Pro187Leu NC_000001.11:146018119:G:A p.(Pro187Leu) NC_000001.11:146018119:G:A p.(Pro187Leu) NC_000001.11:146018119:G:A Identity +NM_001033855.3:c.17G>A NP_001029027.1:p.Gly6Glu NC_000010.11:14953993:C:T p.(Gly6Glu) NC_000010.11:14953993:C:T p.(Gly6Glu) NC_000010.11:14953993:C:T Identity +NM_001256182.2:c.1360G>A NP_001243111.1:p.Val454Met NC_000016.10:89285181:C:T p.(Val454Met) NC_000016.10:89285181:C:T p.(Val454Met) NC_000016.10:89285181:C:T Identity +NM_001101.5:c.1045C>G NP_001092.1:p.Leu349Val NC_000007.14:5527830:G:C p.(Leu349Val) NC_000007.14:5527830:G:C p.(Leu349Val) NC_000007.14:5527830:G:C Identity +NM_001379141.1:c.1354C>T NP_001366070.1:p.Leu452Phe NC_000018.10:44950693:C:T p.(Leu452Phe) NC_000018.10:44950693:C:T p.(Leu452Phe) NC_000018.10:44950693:C:T Identity +NM_001079802.2:c.1184C>T NP_001073270.1:p.Pro395Leu NC_000009.12:105635061:C:T p.(Pro395Leu) NC_000009.12:105635061:C:T p.(Pro395Leu) NC_000009.12:105635061:C:T Identity +NM_001278074.1:c.5081G>A NP_001265003.1:p.Arg1694His NC_000009.12:134830120:G:A p.(Arg1694His) NC_000009.12:134830120:G:A p.(Arg1694His) NC_000009.12:134830120:G:A Identity +LRG_785t1:c.460C>G LRG_785p1:p.Pro154Ala NC_000019.10:50401920:C:G ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:Data provider error: ValueError: Transcript LRG_785t1 not found ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_785t1, alt_ac=LRG_785t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_785t1 not found +NM_001135659.3:c.4250C>A NP_001129131.1:p.Thr1417Asn NC_000002.12:49943789:G:T p.(Thr1417Asn) NC_000002.12:49943789:G:T p.(Thr1417Asn) NC_000002.12:49943789:G:T Identity +NM_001190709.2:c.3110G>A NP_001177638.1:p.Arg1037His NC_000001.11:102946897:C:T p.(Arg1037His) NC_000001.11:102946897:C:T p.(Arg1037His) NC_000001.11:102946897:C:T Identity +NM_031407.7:c.1736A>G NP_113584.3:p.Asn579Ser NC_000023.11:53617382:T:C p.(Asn579Ser) NC_000023.11:53617382:T:C p.(Asn579Ser) NC_000023.11:53617382:T:C Identity +NM_001127231.3:c.64C>T NP_001120703.1:p.Arg22Trp NC_000007.14:69599716:C:T p.(Arg22Trp) NC_000007.14:69599716:C:T p.(Arg22Trp) NC_000007.14:69599716:C:T Identity +NM_001365276.2:c.7906A>G NP_001352205.1:p.Met2636Val NC_000006.12:32056822:T:C p.(Met2636Val) NC_000006.12:32056822:T:C p.(Met2636Val) NC_000006.12:32056822:T:C Identity +NM_000314.8:c.328C>A NP_000305.3:p.Gln110Lys NC_000010.11:87933086:C:A p.(Gln110Lys) NC_000010.11:87933086:C:A p.(Gln110Lys) NC_000010.11:87933086:C:A Identity +NM_001367624.2:c.2651C>T NP_001354553.1:p.Pro884Leu NC_000016.10:88430120:C:T p.(Pro884Leu) NC_000016.10:88430120:C:T p.(Pro884Leu) NC_000016.10:88430120:C:T Identity +NM_030665.4:c.5602G>A NP_109590.3:p.Gly1868Arg NC_000017.11:17803791:G:A p.(Gly1868Arg) NC_000017.11:17803791:G:A p.(Gly1868Arg) NC_000017.11:17803791:G:A Identity +NM_001040142.2:c.1770G>C NP_001035232.1:p.Glu590Asp NC_000002.12:165323253:G:C p.(Glu590Asp) NC_000002.12:165323253:G:C p.(Glu590Asp) NC_000002.12:165323253:G:C Identity +NM_001083961.2:c.3412G>A NP_001077430.1:p.Gly1138Arg NC_000019.10:36103023:G:A p.(Gly1138Arg) NC_000019.10:36103023:G:A p.(Gly1138Arg) NC_000019.10:36103023:G:A Identity +NM_001145661.2:c.1020_1029dup NP_001139133.1:p.Arg344fs NC_000003.12:128481932:TCTGGCGGCC:TCTGGCGGCCTCTGGCGGCC p.(Arg344GlyfsTer43) NC_000003.12:128481932:TCTGGCGGCC:TCTGGCGGCCTCTGGCGGCC p.(Arg344GlyfsTer43) ERR:SPDI Analogous +NM_001145661.2:c.793_802del NP_001139133.1:p.Phe265fs NC_000003.12:128485795:CGGGGTGGAA: p.(Phe265GlufsTer58) NC_000003.12:128485795:CGGGGTGGAA: p.(Phe265GlufsTer58) NC_000003.12:128485795:CGGGGTGGAA: Analogous +NM_001145661.2:c.892dup NP_001139133.1:p.Cys298fs NC_000003.12:128483984:A:AA p.(Cys298LeufsTer86) NC_000003.12:128483984:A:AA p.(Cys298LeufsTer86) ERR:SPDI Analogous +NM_001202543.2:c.3718G>A NP_001189472.1:p.Gly1240Ser NC_000007.14:102239381:G:A p.(Gly1240Ser) NC_000007.14:102239381:G:A p.(Gly1240Ser) NC_000007.14:102239381:G:A Identity +NM_000199.5:c.716A>G NP_000190.1:p.Gln239Arg NC_000017.11:80213832:T:C p.(Gln239Arg) NC_000017.11:80213832:T:C p.(Gln239Arg) NC_000017.11:80213832:T:C Identity +NM_003128.3:c.2674G>T NP_003119.2:p.Glu892Ter NC_000002.12:54629895:G:T p.(Glu892Ter) NC_000002.12:54629895:G:T p.(Glu892Ter) NC_000002.12:54629895:G:T Identity +NM_001128855.3:c.836C>T NP_001122327.1:p.Pro279Leu NC_000019.10:17339460:C:T p.(Pro279Leu) NC_000019.10:17339460:C:T p.(Pro279Leu) NC_000019.10:17339460:C:T Identity +NM_000828.5:c.515C>G NP_000819.4:p.Ser172Cys NC_000023.11:123326031:C:G p.(Ser172Cys) NC_000023.11:123326031:C:G p.(Ser172Cys) NC_000023.11:123326031:C:G Identity +NM_001365276.2:c.6805C>T NP_001352205.1:p.Gln2269Ter NC_000006.12:32064856:G:A p.(Gln2269Ter) NC_000006.12:32064856:G:A p.(Gln2269Ter) NC_000006.12:32064856:G:A Identity +NM_004974.4:c.1135G>C NP_004965.1:p.Asp379His NC_000001.11:110603647:C:G p.(Asp379His) NC_000001.11:110603647:C:G p.(Asp379His) NC_000001.11:110603647:C:G Identity +LRG_1046t1:c.341C>T LRG_1046p1:p.Pro114Leu NC_000015.10:23647401:G:A ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found ERR:AlignmentMapper(tx_ac=LRG_1046t1, alt_ac=LRG_1046t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1046t1, alt_ac=LRG_1046t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1046t1 not found +NM_020778.5:c.3682C>T NP_065829.4:p.Arg1228Trp NC_000015.10:84858419:C:T p.(Arg1228Trp) NC_000015.10:84858419:C:T p.(Arg1228Trp) NC_000015.10:84858419:C:T Identity +NM_000109.4:c.5209C>T NP_000100.3:p.Arg1737Cys NC_000023.11:32362879:G:A p.(Arg1737Cys) NC_000023.11:32362879:G:A p.(Arg1737Cys) NC_000023.11:32362879:G:A Identity +NM_001345950.1:c.1135C>T NP_001332879.1:p.Gln379Ter NC_000010.11:102656928:C:T p.(Gln379Ter) NC_000010.11:102656928:C:T p.(Gln379Ter) NC_000010.11:102656928:C:T Identity +NM_006516.4:c.399C>A NP_006507.2:p.Cys133Ter NC_000001.11:42930742:G:T p.(Cys133Ter) NC_000001.11:42930742:G:T p.(Cys133Ter) NC_000001.11:42930742:G:T Identity +NM_001190709.2:c.2405G>T NP_001177638.1:p.Gly802Val NC_000001.11:102984171:C:A p.(Gly802Val) NC_000001.11:102984171:C:A p.(Gly802Val) NC_000001.11:102984171:C:A Identity +NM_000096.4:c.3011A>G NP_000087.2:p.Gln1004Arg NC_000003.12:149177846:T:C p.(Gln1004Arg) NC_000003.12:149177846:T:C p.(Gln1004Arg) NC_000003.12:149177846:T:C Identity +NM_004004.6:c.409A>C NP_003995.2:p.Thr137Pro NC_000013.11:20189172:T:G p.(Thr137Pro) NC_000013.11:20189172:T:G p.(Thr137Pro) NC_000013.11:20189172:T:G Identity +NM_001145026.2:c.6113C>T NP_001138498.1:p.Pro2038Leu NC_000012.12:80652831:C:T p.(Pro2038Leu) NC_000012.12:80652831:C:T p.(Pro2038Leu) NC_000012.12:80652831:C:T Identity +NM_001163321.4:c.1387C>A NP_001156793.2:p.Pro463Thr NC_000023.11:49067500:C:A p.(Pro463Thr) NC_000023.11:49067500:C:A p.(Pro463Thr) NC_000023.11:49067500:C:A Identity +NM_000462.5:c.8A>G NP_000453.2:p.Lys3Arg NC_000015.10:25408640:T:C p.(Lys3Arg) NC_000015.10:25408640:T:C p.(Lys3Arg) NC_000015.10:25408640:T:C Identity +NM_001142763.2:c.4573G>A NP_001136235.1:p.Asp1525Asn NC_000010.11:53823173:C:T p.(Asp1525Asn) NC_000010.11:53823173:C:T p.(Asp1525Asn) NC_000010.11:53823173:C:T Identity +NM_001178032.3:c.362C>G NP_001171503.1:p.Thr121Arg NC_000023.11:64919171:G:C p.(Thr121Arg) NC_000023.11:64919171:G:C p.(Thr121Arg) NC_000023.11:64919171:G:C Identity +NM_016239.4:c.4538C>T NP_057323.3:p.Ala1513Val NC_000017.11:18135765:C:T p.(Ala1513Val) NC_000017.11:18135765:C:T p.(Ala1513Val) NC_000017.11:18135765:C:T Identity +NM_006766.5:c.5683C>T NP_006757.2:p.Arg1895Cys NC_000008.11:41932536:G:A p.(Arg1895Cys) NC_000008.11:41932536:G:A p.(Arg1895Cys) NC_000008.11:41932536:G:A Identity +NM_001277269.2:c.8372G>T NP_001264198.1:p.Cys2791Phe NC_000011.10:17642166:G:T p.(Cys2791Phe) NC_000011.10:17642166:G:T p.(Cys2791Phe) NC_000011.10:17642166:G:T Identity +NM_000090.4:c.1595G>A NP_000081.2:p.Gly532Asp NC_000002.12:188995776:G:A p.(Gly532Asp) NC_000002.12:188995776:G:A p.(Gly532Asp) NC_000002.12:188995776:G:A Identity +NM_000288.4:c.947del NP_000279.1:p.Pro316fs NC_000006.12:136913498:CCC:CC p.(Pro316LeufsTer29) NC_000006.12:136913498:CCC:CC p.(Pro316LeufsTer29) NC_000006.12:136913500:C: Analogous +NM_000137.4:c.437A>G NP_000128.1:p.Asn146Ser NC_000015.10:80162317:A:G p.(Asn146Ser) NC_000015.10:80162317:A:G p.(Asn146Ser) NC_000015.10:80162317:A:G Identity +NM_001039213.4:c.551G>A NP_001034302.2:p.Arg184Gln NC_000019.10:44704185:G:A p.(Arg184Gln) NC_000019.10:44704185:G:A p.(Arg184Gln) NC_000019.10:44704185:G:A Identity +NM_004771.4:c.911C>G NP_004762.2:p.Ala304Gly NC_000011.10:102606576:G:C p.(Ala304Gly) NC_000011.10:102606576:G:C p.(Ala304Gly) NC_000011.10:102606576:G:C Identity +NM_001039706.3:c.2562C>G NP_001034795.2:p.Ser854Arg NC_000007.14:90309273:C:G p.(Ser854Arg) NC_000007.14:90309273:C:G p.(Ser854Arg) NC_000007.14:90309273:C:G Identity +NM_001039141.3:c.163C>T NP_001034230.1:p.Arg55Ter NC_000022.11:37710474:C:T p.(Arg55Ter) NC_000022.11:37710474:C:T p.(Arg55Ter) NC_000022.11:37710474:C:T Identity +NM_001170649.2:c.320G>A NP_001164120.1:p.Gly107Asp NC_000023.11:65533651:C:T p.(Gly107Asp) NC_000023.11:65533651:C:T p.(Gly107Asp) NC_000023.11:65533651:C:T Identity +NM_000142.5:c.1676C>T NP_000133.1:p.Ala559Val NC_000004.12:1805779:C:T p.(Ala559Val) NC_000004.12:1805779:C:T p.(Ala559Val) NC_000004.12:1805779:C:T Identity +NM_001277742.2:c.1192C>A NP_001264671.1:p.Arg398Ser NC_000002.12:72132348:G:T p.(Arg398Ser) NC_000002.12:72132348:G:T p.(Arg398Ser) NC_000002.12:72132348:G:T Identity +NM_000168.6:c.2735G>A NP_000159.3:p.Ser912Asn NC_000007.14:41966337:C:T p.(Ser912Asn) NC_000007.14:41966337:C:T p.(Ser912Asn) NC_000007.14:41966337:C:T Identity +NM_017514.5:c.788_797del NP_059984.3:p.Val263fs NC_000023.11:154461290:GTGCGCATGTG:G p.(Val263AlafsTer104) NC_000023.11:154461290:GTGCGCATGTG:G p.(Val263AlafsTer104) NC_000023.11:154461291:TGCGCATGTG: Analogous +NM_138694.4:c.9739G>C NP_619639.3:p.Val3247Leu NC_000006.12:51747876:C:G p.(Val3247Leu) NC_000006.12:51747876:C:G p.(Val3247Leu) NC_000006.12:51747876:C:G Identity +NM_000543.5:c.152A>T NP_000534.3:p.Asp51Val NC_000011.10:6390749:A:T p.(Asp51Val) NC_000011.10:6390749:A:T p.(Asp51Val) NC_000011.10:6390749:A:T Identity +NM_001033503.3:c.83_84del NP_001028675.1:p.Leu28fs NC_000005.10:134621026:CA: p.(Leu28ArgfsTer7) NC_000005.10:134621026:CA: p.(Leu28ArgfsTer7) NC_000005.10:134621026:CA: Analogous +NM_001350748.2:c.5048G>A NP_001337677.1:p.Arg1683Gln NC_000013.11:101058000:C:T p.(Arg1683Gln) NC_000013.11:101058000:C:T p.(Arg1683Gln) NC_000013.11:101058000:C:T Identity +NM_020639.3:c.721C>T NP_065690.2:p.Arg241Cys NC_000021.9:41746723:G:A p.(Arg241Cys) NC_000021.9:41746723:G:A p.(Arg241Cys) NC_000021.9:41746723:G:A Identity +NM_000195.5:c.847G>C NP_000186.2:p.Gly283Arg NC_000010.11:98429810:C:G p.(Gly283Arg) NC_000010.11:98429810:C:G p.(Gly283Arg) NC_000010.11:98429810:C:G Identity +NM_001113378.2:c.419A>G NP_001106849.1:p.Lys140Arg NC_000015.10:89261714:A:G p.(Lys140Arg) NC_000015.10:89261714:A:G p.(Lys140Arg) NC_000015.10:89261714:A:G Identity +NM_020461.4:c.934C>G NP_065194.3:p.Leu312Val NC_000022.11:50233497:G:C p.(Leu312Val) NC_000022.11:50233497:G:C p.(Leu312Val) NC_000022.11:50233497:G:C Identity +NM_000093.5:c.4084C>T NP_000084.3:p.Pro1362Ser NC_000009.12:134815949:C:T p.(Pro1362Ser) NC_000009.12:134815949:C:T p.(Pro1362Ser) NC_000009.12:134815949:C:T Identity +NM_001145853.1:c.1072G>C NP_001139325.1:p.Val358Leu NC_000004.12:6300866:G:C p.(Val358Leu) NC_000004.12:6300866:G:C p.(Val358Leu) NC_000004.12:6300866:G:C Identity +NM_005378.6:c.204_205del NP_005369.2:p.Glu69fs NC_000002.12:15942267:GG: p.(Glu69AlafsTer15) NC_000002.12:15942267:GG: p.(Glu69AlafsTer15) NC_000002.12:15942267:GG: Analogous +NM_001135669.2:c.1814G>A NP_001129141.1:p.Arg605His NC_000001.11:180880275:G:A p.(Arg605His) NC_000001.11:180880275:G:A p.(Arg605His) NC_000001.11:180880275:G:A Identity +NM_001384732.1:c.9043C>T NP_001371661.1:p.Arg3015Cys NC_000005.10:37121758:G:A p.(Arg3015Cys) NC_000005.10:37121758:G:A p.(Arg3015Cys) NC_000005.10:37121758:G:A Identity +NM_001256850.1:c.98686C>T NP_001243779.1:p.Arg32896Trp NC_000002.12:178533005:G:A p.(Arg32896Trp) NC_000002.12:178533005:G:A p.(Arg32896Trp) NC_000002.12:178533005:G:A Identity +NM_000540.3:c.3166G>C NP_000531.2:p.Asp1056His NC_000019.10:38466385:G:C p.(Asp1056His) NC_000019.10:38466385:G:C p.(Asp1056His) NC_000019.10:38466385:G:C Identity +NM_001308133.2:c.119C>G NP_001295062.1:p.Ala40Gly NC_000014.9:45136149:C:G p.(Ala40Gly) NC_000014.9:45136149:C:G p.(Ala40Gly) NC_000014.9:45136149:C:G Identity +NM_003737.4:c.7207C>T NP_003728.1:p.Arg2403Trp NC_000011.10:6624807:G:A p.(Arg2403Trp) NC_000011.10:6624807:G:A p.(Arg2403Trp) NC_000011.10:6624807:G:A Identity +NM_001029882.3:c.3250G>A NP_001025053.1:p.Ala1084Thr NC_000001.11:27548865:C:T p.(Ala1084Thr) NC_000001.11:27548865:C:T p.(Ala1084Thr) NC_000001.11:27548865:C:T Identity +NM_000920.4:c.3242A>G NP_000911.2:p.Asn1081Ser NC_000011.10:66849275:T:C p.(Asn1081Ser) NC_000011.10:66849275:T:C p.(Asn1081Ser) NC_000011.10:66849275:T:C Identity +NM_001367624.2:c.6326A>G NP_001354553.1:p.Asp2109Gly NC_000016.10:88433795:A:G p.(Asp2109Gly) NC_000016.10:88433795:A:G p.(Asp2109Gly) NC_000016.10:88433795:A:G Identity +NM_001316690.1:c.883C>T NP_001303619.1:p.Arg295Trp NC_000008.11:60742314:C:T p.(Arg295Trp) NC_000008.11:60742314:C:T p.(Arg295Trp) NC_000008.11:60742314:C:T Identity +NM_001272037.2:c.956C>A NP_001258966.1:p.Ala319Glu NC_000021.9:44525828:G:T p.(Ala319Glu) NC_000021.9:44525828:G:T p.(Ala319Glu) NC_000021.9:44525828:G:T Identity +NM_001289396.2:c.1662_1664AGA[3] NP_001276325.1:p.Lys556Glufs NC_000009.12:2060957:AGAAGAAGAAGA:AGAAGAAGA p.(Glu555_Lys556insGluGlu) NC_000009.12:2060955:AGA:AGAAGAAGA ERR:Parse ERR:Parse Analogous +NM_003850.3:c.988G>C NP_003841.1:p.Ala330Pro NC_000013.11:47954258:C:G p.(Ala330Pro) NC_000013.11:47954258:C:G p.(Ala330Pro) NC_000013.11:47954258:C:G Identity +NM_001367830.1:c.3134G>A NP_001354759.1:p.Arg1045Gln NC_000019.10:11223032:C:T p.(Arg1045Gln) NC_000019.10:11223032:C:T p.(Arg1045Gln) NC_000019.10:11223032:C:T Identity +NM_001001438.3:c.1943A>T NP_001001438.1:p.Gln648Leu NC_000021.9:46194535:T:A p.(Gln648Leu) NC_000021.9:46194535:T:A p.(Gln648Leu) NC_000021.9:46194535:T:A Identity +NM_001169122.2:c.1033A>G NP_001162593.1:p.Ser345Gly NC_000023.11:148809878:A:G p.(Ser345Gly) NC_000023.11:148809878:A:G p.(Ser345Gly) NC_000023.11:148809878:A:G Identity +NM_000016.6:c.1118T>C NP_000007.1:p.Val373Ala NC_000001.11:75761293:T:C p.(Val373Ala) NC_000001.11:75761293:T:C p.(Val373Ala) NC_000001.11:75761293:T:C Identity +NM_001365684.2:c.2183G>A NP_001352613.2:p.Arg728His NC_000005.10:177211454:G:A p.(Arg728His) NC_000005.10:177211454:G:A p.(Arg728His) NC_000005.10:177211454:G:A Identity +NM_001321076.3:c.1781C>T NP_001308005.1:p.Ser594Phe NC_000017.11:7191907:G:A p.(Ser594Phe) NC_000017.11:7191907:G:A p.(Ser594Phe) NC_000017.11:7191907:G:A Identity +NM_014244.5:c.3151G>A NP_055059.2:p.Asp1051Asn NC_000005.10:179121687:C:T p.(Asp1051Asn) NC_000005.10:179121687:C:T p.(Asp1051Asn) NC_000005.10:179121687:C:T Identity +NM_001267550.2:c.1694C>A NP_001254479.2:p.Ser565Tyr NC_000002.12:178790813:G:T p.(Ser565Tyr) NC_000002.12:178790813:G:T p.(Ser565Tyr) NC_000002.12:178790813:G:T Identity +NM_000797.4:c.802G>T NP_000788.2:p.Gly268Cys NC_000011.10:640050:G:T p.(Gly268Cys) NC_000011.10:640050:G:T p.(Gly268Cys) NC_000011.10:640050:G:T Identity +NM_018706.7:c.2303T>C NP_061176.4:p.Met768Thr NC_000010.11:12113047:T:C p.(Met768Thr) NC_000010.11:12113047:T:C p.(Met768Thr) NC_000010.11:12113047:T:C Identity +NM_002016.2:c.5355C>G NP_002007.1:p.Ser1785Arg NC_000001.11:152309530:G:C p.(Ser1785Arg) NC_000001.11:152309530:G:C p.(Ser1785Arg) NC_000001.11:152309530:G:C Identity +NM_001288721.2:c.958C>T NP_001275650.1:p.Arg320Trp NC_000011.10:62615729:G:A p.(Arg320Trp) NC_000011.10:62615729:G:A p.(Arg320Trp) NC_000011.10:62615729:G:A Identity +NM_000068.4:c.3377G>A NP_000059.3:p.Arg1126His NC_000019.10:13286690:C:T p.(Arg1126His) NC_000019.10:13286690:C:T p.(Arg1126His) NC_000019.10:13286690:C:T Identity +NM_000138.5:c.2296del NP_000129.3:p.Ile766fs NC_000015.10:48496222:T: p.(Ile766LeufsTer6) NC_000015.10:48496222:T: p.(Ile766LeufsTer6) NC_000015.10:48496222:T: Analogous +NM_080680.3:c.973G>A NP_542411.2:p.Asp325Asn NC_000006.12:33184290:C:T p.(Asp325Asn) NC_000006.12:33184290:C:T p.(Asp325Asn) NC_000006.12:33184290:C:T Identity +NM_001177984.3:c.5460G>C NP_001171455.1:p.Glu1820Asp NC_000012.12:51807068:G:C p.(Glu1820Asp) NC_000012.12:51807068:G:C p.(Glu1820Asp) NC_000012.12:51807068:G:C Identity +NM_014991.6:c.9134C>G NP_055806.2:p.Thr3045Ser NC_000004.12:84691700:G:C p.(Thr3045Ser) NC_000004.12:84691700:G:C p.(Thr3045Ser) NC_000004.12:84691700:G:C Identity +NM_002238.4:c.1973C>T NP_002229.1:p.Thr658Met NC_000001.11:210775405:G:A p.(Thr658Met) NC_000001.11:210775405:G:A p.(Thr658Met) NC_000001.11:210775405:G:A Identity +NM_006343.3:c.734C>A NP_006334.2:p.Ser245Tyr NC_000002.12:111947543:C:A p.(Ser245Tyr) NC_000002.12:111947543:C:A p.(Ser245Tyr) NC_000002.12:111947543:C:A Identity +NM_000328.3:c.920C>A NP_000319.1:p.Thr307Lys NC_000023.11:38304648:G:T p.(Thr307Lys) NC_000023.11:38304648:G:T p.(Thr307Lys) NC_000023.11:38304648:G:T Identity +NM_006576.4:c.610A>G NP_006567.3:p.Lys204Glu NC_000012.12:57810499:T:C p.(Lys204Glu) NC_000012.12:57810499:T:C p.(Lys204Glu) NC_000012.12:57810499:T:C Identity +NM_024675.4:c.3070del NP_078951.2:p.Glu1024fs NC_000016.10:23621404:C: p.(Glu1024LysfsTer9) NC_000016.10:23621404:C: p.(Glu1024LysfsTer9) NC_000016.10:23621404:C: Analogous +NM_001145853.1:c.1264G>A NP_001139325.1:p.Ala422Thr NC_000004.12:6301058:G:A p.(Ala422Thr) NC_000004.12:6301058:G:A p.(Ala422Thr) NC_000004.12:6301058:G:A Identity +NM_012463.4:c.2186G>A NP_036595.2:p.Gly729Glu NC_000012.12:123754429:G:A p.(Gly729Glu) NC_000012.12:123754429:G:A p.(Gly729Glu) NC_000012.12:123754429:G:A Identity +NM_020778.5:c.245C>T NP_065829.4:p.Thr82Met NC_000015.10:84827545:C:T p.(Thr82Met) NC_000015.10:84827545:C:T p.(Thr82Met) NC_000015.10:84827545:C:T Identity +NM_147196.3:c.59T>A NP_671729.2:p.Val20Glu NC_000003.12:46701545:T:A p.(Val20Glu) NC_000003.12:46701545:T:A p.(Val20Glu) NC_000003.12:46701545:T:A Identity +NM_080679.3:c.3671G>C NP_542410.2:p.Arg1224Pro NC_000006.12:33167820:C:G p.(Arg1224Pro) NC_000006.12:33167820:C:G p.(Arg1224Pro) NC_000006.12:33167820:C:G Identity +NM_000802.3:c.124C>A NP_000793.1:p.His42Asn NC_000011.10:72192296:C:A p.(His42Asn) NC_000011.10:72192296:C:A p.(His42Asn) NC_000011.10:72192296:C:A Identity +NM_033109.5:c.1022A>G NP_149100.2:p.Asn341Ser NC_000002.12:55667912:T:C p.(Asn341Ser) NC_000002.12:55667912:T:C p.(Asn341Ser) NC_000002.12:55667912:T:C Identity +NM_001384158.1:c.1216A>G NP_001371087.1:p.Ile406Val NC_000014.9:91877578:T:C p.(Ile406Val) NC_000014.9:91877578:T:C p.(Ile406Val) NC_000014.9:91877578:T:C Identity +NM_000359.3:c.1264A>T NP_000350.1:p.Lys422Ter NC_000014.9:24258568:T:A p.(Lys422Ter) NC_000014.9:24258568:T:A p.(Lys422Ter) NC_000014.9:24258568:T:A Identity +NM_001367624.2:c.2045_2063dup NP_001354553.1:p.Phe690fs NC_000016.10:88429514:TCCAGTGCCTGGAGGAGAC:TCCAGTGCCTGGAGGAGACTCCAGTGCCTGGAGGAGAC p.(Phe690ValfsTer54) NC_000016.10:88429514:TCCAGTGCCTGGAGGAGAC:TCCAGTGCCTGGAGGAGACTCCAGTGCCTGGAGGAGAC p.(Phe690ValfsTer54) ERR:SPDI Analogous +NM_001354689.3:c.1110G>T NP_001341618.1:p.Met370Ile NC_000003.12:12599748:C:A p.(Met370Ile) NC_000003.12:12599748:C:A p.(Met370Ile) NC_000003.12:12599748:C:A Identity +NM_001256850.1:c.88985T>C NP_001243779.1:p.Val29662Ala NC_000002.12:178547717:A:G p.(Val29662Ala) NC_000002.12:178547717:A:G p.(Val29662Ala) NC_000002.12:178547717:A:G Identity +NM_017799.4:c.1744G>C NP_060269.3:p.Glu582Gln NC_000014.9:56634917:G:C p.(Glu582Gln) NC_000014.9:56634917:G:C p.(Glu582Gln) NC_000014.9:56634917:G:C Identity +NM_001040142.2:c.5728A>G NP_001035232.1:p.Ile1910Val NC_000002.12:165389533:A:G p.(Ile1910Val) NC_000002.12:165389533:A:G p.(Ile1910Val) NC_000002.12:165389533:A:G Identity +NM_001278055.2:c.9570C>G NP_001264984.1:p.Ile3190Met NC_000013.11:23333864:G:C p.(Ile3190Met) NC_000013.11:23333864:G:C p.(Ile3190Met) NC_000013.11:23333864:G:C Identity +NM_005859.5:c.211A>G NP_005850.1:p.Lys71Glu NC_000005.10:140114391:A:G p.(Lys71Glu) NC_000005.10:140114391:A:G p.(Lys71Glu) NC_000005.10:140114391:A:G Identity +NM_001256468.2:c.2491C>T NP_001243397.1:p.Gln831Ter NC_000010.11:75021898:C:T p.(Gln831Ter) NC_000010.11:75021898:C:T p.(Gln831Ter) NC_000010.11:75021898:C:T Identity +NM_001256850.1:c.66027C>G NP_001243779.1:p.Asn22009Lys NC_000002.12:178575181:G:C p.(Asn22009Lys) NC_000002.12:178575181:G:C p.(Asn22009Lys) NC_000002.12:178575181:G:C Identity +NM_000548.5:c.680_682del NP_000539.2:p.Cys227del NC_000016.10:2056672:CTGCT:CT p.(Cys227del) NC_000016.10:2056672:CTGCT:CT p.(Cys227del) NC_000016.10:2056674:GCT: Identity +NM_000068.4:c.2516_2518del NP_000059.3:p.Thr839del NC_000019.10:13299126:TGGTG:TG p.(Thr839del) NC_000019.10:13299126:TGGTG:TG p.(Thr839del) NC_000019.10:13299126:TGG: Identity +NM_001352017.2:c.98C>G NP_001338946.1:p.Pro33Arg NC_000016.10:879717:G:C p.(Pro33Arg) NC_000016.10:879717:G:C p.(Pro33Arg) NC_000016.10:879717:G:C Identity +NM_001081676.2:c.1861C>T NP_001075145.1:p.Arg621Cys NC_000002.12:165140808:G:A p.(Arg621Cys) NC_000002.12:165140808:G:A p.(Arg621Cys) NC_000002.12:165140808:G:A Identity +NM_001319960.2:c.940A>T NP_001306889.1:p.Arg314Ter NC_000001.11:184721299:T:A p.(Arg314Ter) NC_000001.11:184721299:T:A p.(Arg314Ter) NC_000001.11:184721299:T:A Identity +NM_032125.3:c.334C>T NP_115501.2:p.Gln112Ter NC_000001.11:27333979:C:T p.(Gln112Ter) NC_000001.11:27333979:C:T p.(Gln112Ter) NC_000001.11:27333979:C:T Identity +NM_001135659.3:c.4254del NP_001129131.1:p.Asp1419fs NC_000002.12:49943785:T: p.(Asp1419MetfsTer27) NC_000002.12:49943785:T: p.(Asp1419MetfsTer27) NC_000002.12:49943785:T: Analogous +NM_021072.4:c.874G>A NP_066550.2:p.Ala292Thr NC_000005.10:45461982:C:T p.(Ala292Thr) NC_000005.10:45461982:C:T p.(Ala292Thr) NC_000005.10:45461982:C:T Identity +NM_001163771.2:c.434C>G NP_001157243.1:p.Ala145Gly NC_000006.12:33188986:G:C p.(Ala145Gly) NC_000006.12:33188986:G:C p.(Ala145Gly) NC_000006.12:33188986:G:C Identity +NM_000249.4:c.1803del NP_000240.1:p.Asp601fs NC_000003.12:37047589:T: p.(Asp601GlufsTer15) NC_000003.12:37047589:T: p.(Asp601GlufsTer15) NC_000003.12:37047589:T: Analogous +NM_001317184.2:c.2090A>G NP_001304113.1:p.Glu697Gly NC_000016.10:68828281:A:G p.(Glu697Gly) NC_000016.10:68828281:A:G p.(Glu697Gly) NC_000016.10:68828281:A:G Identity +NM_001277115.2:c.1372C>T NP_001264044.1:p.His458Tyr NC_000007.14:21570245:C:T p.(His458Tyr) NC_000007.14:21570245:C:T p.(His458Tyr) NC_000007.14:21570245:C:T Identity +NM_000540.3:c.3656A>C NP_000531.2:p.Gln1219Pro NC_000019.10:38469403:A:C p.(Gln1219Pro) NC_000019.10:38469403:A:C p.(Gln1219Pro) NC_000019.10:38469403:A:C Identity +NM_000548.5:c.4081C>G NP_000539.2:p.Arg1361Gly NC_000016.10:2084302:C:G p.(Arg1361Gly) NC_000016.10:2084302:C:G p.(Arg1361Gly) NC_000016.10:2084302:C:G Identity +NM_001256896.2:c.511dup NP_001243825.1:p.His171fs NC_000004.12:3493422:CCCCC:CCCCCC p.(His171ProfsTer38) NC_000004.12:3493422:CCCCC:CCCCCC p.(His171ProfsTer38) ERR:SPDI Analogous +NM_001080114.2:c.749G>A NP_001073583.1:p.Arg250Lys NC_000010.11:86692564:G:A p.(Arg250Lys) NC_000010.11:86692564:G:A p.(Arg250Lys) NC_000010.11:86692564:G:A Identity +NM_001282145.2:c.1306C>T NP_001269074.1:p.Arg436Trp NC_000023.11:5903371:G:A p.(Arg436Trp) NC_000023.11:5903371:G:A p.(Arg436Trp) NC_000023.11:5903371:G:A Identity +NM_001267550.2:c.36082G>C NP_001254479.2:p.Val12028Leu NC_000002.12:178664887:C:G p.(Val12028Leu) NC_000002.12:178664887:C:G p.(Val12028Leu) NC_000002.12:178664887:C:G Identity +NM_001371415.1:c.655C>T NP_001358344.1:p.Arg219Cys NC_000023.11:15589384:G:A p.(Arg219Cys) NC_000023.11:15589384:G:A p.(Arg219Cys) NC_000023.11:15589384:G:A Identity +NM_001135.4:c.5800G>C NP_001126.3:p.Val1934Leu NC_000015.10:88858384:G:C p.(Val1934Leu) NC_000015.10:88858384:G:C p.(Val1934Leu) NC_000015.10:88858384:G:C Identity +NM_001113490.2:c.1103G>A NP_001106962.1:p.Arg368His NC_000023.11:112815646:C:T p.(Arg368His) NC_000023.11:112815646:C:T p.(Arg368His) NC_000023.11:112815646:C:T Identity +NM_001104544.3:c.433C>T NP_001098014.1:p.Pro145Ser NC_000023.11:120285205:G:A p.(Pro145Ser) NC_000023.11:120285205:G:A p.(Pro145Ser) NC_000023.11:120285205:G:A Identity +NM_001130081.3:c.2567A>C NP_001123553.1:p.Tyr856Ser NC_000003.12:171620432:T:G p.(Tyr856Ser) NC_000003.12:171620432:T:G p.(Tyr856Ser) NC_000003.12:171620432:T:G Identity +NM_000351.7:c.97G>A NP_000342.3:p.Gly33Ser NC_000023.11:7253295:G:A p.(Gly33Ser) NC_000023.11:7253295:G:A p.(Gly33Ser) NC_000023.11:7253295:G:A Identity +NM_015378.4:c.1342A>G NP_056193.2:p.Thr448Ala NC_000001.11:12261076:A:G p.(Thr448Ala) NC_000001.11:12261076:A:G p.(Thr448Ala) NC_000001.11:12261076:A:G Identity +NM_080681.3:c.2098C>T NP_542412.2:p.Pro700Ser NC_000006.12:33175593:G:A p.(Pro700Ser) NC_000006.12:33175593:G:A p.(Pro700Ser) NC_000006.12:33175593:G:A Identity +NM_001350748.2:c.2666C>T NP_001337677.1:p.Ala889Val NC_000013.11:101107486:G:A p.(Ala889Val) NC_000013.11:101107486:G:A p.(Ala889Val) NC_000013.11:101107486:G:A Identity +NM_152393.4:c.605C>T NP_689606.2:p.Ala202Val NC_000003.12:42686222:C:T p.(Ala202Val) NC_000003.12:42686222:C:T p.(Ala202Val) NC_000003.12:42686222:C:T Identity +NM_001080517.3:c.116T>G NP_001073986.1:p.Val39Gly NC_000003.12:9433888:T:G p.(Val39Gly) NC_000003.12:9433888:T:G p.(Val39Gly) NC_000003.12:9433888:T:G Identity +NM_001042749.2:c.1570A>G NP_001036214.1:p.Ile524Val NC_000023.11:124061805:A:G p.(Ile524Val) NC_000023.11:124061805:A:G p.(Ile524Val) NC_000023.11:124061805:A:G Identity +NM_001349370.3:c.4354C>T NP_001336299.1:p.Arg1452Ter NC_000003.12:47116722:G:A p.(Arg1452Ter) NC_000003.12:47116722:G:A p.(Arg1452Ter) NC_000003.12:47116722:G:A Identity +NM_001293306.2:c.5443G>A NP_001280235.2:p.Gly1815Arg NC_000003.12:38697773:C:T p.(Gly1815Arg) NC_000003.12:38697773:C:T p.(Gly1815Arg) NC_000003.12:38697773:C:T Identity +NM_000059.4:c.4034A>G NP_000050.3:p.Asp1345Gly NC_000013.11:32338388:A:G p.(Asp1345Gly) NC_000013.11:32338388:A:G p.(Asp1345Gly) NC_000013.11:32338388:A:G Identity +NM_001042681.2:c.1712G>A NP_001036146.1:p.Ser571Asn NC_000001.11:8364083:C:T p.(Ser571Asn) NC_000001.11:8364083:C:T p.(Ser571Asn) NC_000001.11:8364083:C:T Identity +NM_001382637.1:c.2647G>C NP_001369566.1:p.Gly883Arg NC_000015.10:31483448:C:G p.(Gly883Arg) NC_000015.10:31483448:C:G p.(Gly883Arg) NC_000015.10:31483448:C:G Identity +NM_001145357.2:c.1814A>G NP_001138829.1:p.Tyr605Cys NC_000015.10:75400079:T:C p.(Tyr605Cys) NC_000015.10:75400079:T:C p.(Tyr605Cys) NC_000015.10:75400079:T:C Identity +NM_000182.5:c.316A>G NP_000173.2:p.Met106Val NC_000002.12:26234353:T:C p.(Met106Val) NC_000002.12:26234353:T:C p.(Met106Val) NC_000002.12:26234353:T:C Identity +NM_001348027.2:c.751C>G NP_001334956.1:p.Leu251Val NC_000019.10:15458566:G:C p.(Leu251Val) NC_000019.10:15458566:G:C p.(Leu251Val) NC_000019.10:15458566:G:C Identity +NM_001023570.4:c.1194G>A NP_001018864.2:p.Trp398Ter NC_000003.12:121788367:C:T p.(Trp398Ter) NC_000003.12:121788367:C:T p.(Trp398Ter) NC_000003.12:121788367:C:T Identity +NM_000329.3:c.143G>A NP_000320.1:p.Gly48Glu NC_000001.11:68446811:C:T p.(Gly48Glu) NC_000001.11:68446811:C:T p.(Gly48Glu) NC_000001.11:68446811:C:T Identity +NM_007118.4:c.7355G>C NP_009049.2:p.Gly2452Ala NC_000005.10:14487982:G:C p.(Gly2452Ala) NC_000005.10:14487982:G:C p.(Gly2452Ala) NC_000005.10:14487982:G:C Identity +NM_001365276.2:c.4649G>A NP_001352205.1:p.Arg1550His NC_000006.12:32073678:C:T p.(Arg1550His) NC_000006.12:32073678:C:T p.(Arg1550His) NC_000006.12:32073678:C:T Identity +NM_001844.5:c.2563G>C NP_001835.3:p.Gly855Arg NC_000012.12:47980615:C:G p.(Gly855Arg) NC_000012.12:47980615:C:G p.(Gly855Arg) NC_000012.12:47980615:C:G Identity +NM_001177428.1:c.1639C>A NP_001170899.1:p.Arg547Ser NC_000012.12:109792695:G:T p.(Arg547Ser) NC_000012.12:109792695:G:T p.(Arg547Ser) NC_000012.12:109792695:G:T Identity +NM_001080463.2:c.244C>T NP_001073932.1:p.Arg82Ter NC_000011.10:103113584:C:T p.(Arg82Ter) NC_000011.10:103113584:C:T p.(Arg82Ter) NC_000011.10:103113584:C:T Identity +NM_001320750.3:c.1248G>C NP_001307679.1:p.Lys416Asn NC_000023.11:7325468:G:C p.(Lys416Asn) NC_000023.11:7325468:G:C p.(Lys416Asn) NC_000023.11:7325468:G:C Identity +NM_000260.4:c.2084C>G NP_000251.3:p.Ala695Gly NC_000011.10:77174903:C:G p.(Ala695Gly) NC_000011.10:77174903:C:G p.(Ala695Gly) NC_000011.10:77174903:C:G Identity +NM_001291728.2:c.745G>A NP_001278657.1:p.Glu249Lys NC_000017.11:39673141:C:T p.(Glu249Lys) NC_000017.11:39673141:C:T p.(Glu249Lys) NC_000017.11:39673141:C:T Identity +NM_002317.7:c.364C>T NP_002308.2:p.Arg122Cys NC_000005.10:122077621:G:A p.(Arg122Cys) NC_000005.10:122077621:G:A p.(Arg122Cys) NC_000005.10:122077621:G:A Identity +NM_001367624.2:c.3032G>A NP_001354553.1:p.Arg1011Gln NC_000016.10:88430501:G:A p.(Arg1011Gln) NC_000016.10:88430501:G:A p.(Arg1011Gln) NC_000016.10:88430501:G:A Identity +NM_001171087.3:c.1466C>T NP_001164558.1:p.Ala489Val NC_000003.12:184354304:G:A p.(Ala489Val) NC_000003.12:184354304:G:A p.(Ala489Val) NC_000003.12:184354304:G:A Identity +NM_001145853.1:c.1540C>T NP_001139325.1:p.Leu514Phe NC_000004.12:6301334:C:T p.(Leu514Phe) NC_000004.12:6301334:C:T p.(Leu514Phe) NC_000004.12:6301334:C:T Identity +NM_001042475.3:c.751C>A NP_001035940.1:p.Pro251Thr NC_000006.12:118565797:G:T p.(Pro251Thr) NC_000006.12:118565797:G:T p.(Pro251Thr) NC_000006.12:118565797:G:T Identity +NM_005609.4:c.307C>G NP_005600.1:p.Leu103Val NC_000011.10:64758640:G:C p.(Leu103Val) NC_000011.10:64758640:G:C p.(Leu103Val) NC_000011.10:64758640:G:C Identity +NM_001351059.2:c.1000G>A NP_001337988.1:p.Val334Ile NC_000011.10:68049668:G:A p.(Val334Ile) NC_000011.10:68049668:G:A p.(Val334Ile) NC_000011.10:68049668:G:A Identity +NM_016343.4:c.2101A>G NP_057427.3:p.Met701Val NC_000001.11:214640438:A:G p.(Met701Val) NC_000001.11:214640438:A:G p.(Met701Val) NC_000001.11:214640438:A:G Identity +NM_003105.6:c.5899G>A NP_003096.2:p.Val1967Ile NC_000011.10:121621072:G:A p.(Val1967Ile) NC_000011.10:121621072:G:A p.(Val1967Ile) NC_000011.10:121621072:G:A Identity +NM_025074.7:c.11544del NP_079350.5:p.Arg3849fs NC_000004.12:78540628:C: p.(Arg3849AspfsTer8) NC_000004.12:78540628:C: p.(Arg3849AspfsTer8) NC_000004.12:78540628:C: Analogous +NM_012327.6:c.719A>T NP_036459.1:p.Glu240Val NC_000018.10:62147056:T:A p.(Glu240Val) NC_000018.10:62147056:T:A p.(Glu240Val) NC_000018.10:62147056:T:A Identity +NM_000022.4:c.996_997del NP_000013.2:p.Ser333fs NC_000020.11:44620379:TA: p.(Ser333PhefsTer6) NC_000020.11:44620379:TA: p.(Ser333PhefsTer6) NC_000020.11:44620379:TA: Analogous +NM_001142805.2:c.1375G>A NP_001136277.1:p.Val459Ile NC_000023.11:153694355:G:A p.(Val459Ile) NC_000023.11:153694355:G:A p.(Val459Ile) NC_000023.11:153694355:G:A Identity +NM_001256850.1:c.47620C>A NP_001243779.1:p.His15874Asn NC_000002.12:178608339:G:T p.(His15874Asn) NC_000002.12:178608339:G:T p.(His15874Asn) NC_000002.12:178608339:G:T Identity +NM_001377289.1:c.77G>T NP_001364218.1:p.Gly26Val NC_000006.12:70281459:C:A p.(Gly26Val) NC_000006.12:70281459:C:A p.(Gly26Val) NC_000006.12:70281459:C:A Identity +NM_001349347.2:c.86C>T NP_001336276.1:p.Ala29Val NC_000008.11:37762744:C:T p.(Ala29Val) NC_000008.11:37762744:C:T p.(Ala29Val) NC_000008.11:37762744:C:T Identity +NM_014423.4:c.437G>T NP_055238.1:p.Ser146Ile NC_000005.10:132934627:C:A p.(Ser146Ile) NC_000005.10:132934627:C:A p.(Ser146Ile) NC_000005.10:132934627:C:A Identity +NM_032730.5:c.2T>C NP_116119.2:p.Met1Thr NC_000006.12:106629019:A:G p.(Met1Thr) NC_000006.12:106629019:A:G p.Met1? NC_000006.12:106629019:A:G Identity +NM_080679.3:c.3637C>T NP_542410.2:p.Arg1213Ter NC_000006.12:33168520:G:A p.(Arg1213Ter) NC_000006.12:33168520:G:A p.(Arg1213Ter) NC_000006.12:33168520:G:A Identity +NM_032856.5:c.746G>A NP_116245.2:p.Arg249His NC_000015.10:84645607:C:T p.(Arg249His) NC_000015.10:84645607:C:T p.(Arg249His) NC_000015.10:84645607:C:T Identity +NM_001127892.2:c.3089C>T NP_001121364.1:p.Pro1030Leu NC_000016.10:51138841:G:A p.(Pro1030Leu) NC_000016.10:51138841:G:A p.(Pro1030Leu) NC_000016.10:51138841:G:A Identity +NM_001323599.2:c.2191G>T NP_001310528.1:p.Val731Leu NC_000010.11:29523492:C:A p.(Val731Leu) NC_000010.11:29523492:C:A p.(Val731Leu) NC_000010.11:29523492:C:A Identity +NM_001157.3:c.572G>A NP_001148.1:p.Arg191Gln NC_000010.11:80167302:C:T p.(Arg191Gln) NC_000010.11:80167302:C:T p.(Arg191Gln) NC_000010.11:80167302:C:T Identity +NM_001999.4:c.1057A>G NP_001990.2:p.Thr353Ala NC_000005.10:128408694:T:C p.(Thr353Ala) NC_000005.10:128408694:T:C p.(Thr353Ala) NC_000005.10:128408694:T:C Identity +NM_001035.3:c.5332T>G NP_001026.2:p.Tyr1778Asp NC_000001.11:237614459:T:G p.(Tyr1778Asp) NC_000001.11:237614459:T:G p.(Tyr1778Asp) NC_000001.11:237614459:T:G Identity +NM_000275.3:c.2086_2095del NP_000266.2:p.Ala696fs NC_000015.10:27871906:GGAGATGTGC: p.(Ala696ThrfsTer2) NC_000015.10:27871906:GGAGATGTGC: p.(Ala696ThrfsTer2) NC_000015.10:27871906:GGAGATGTGC: Analogous +NM_001286715.1:c.156del NP_001273644.1:p.Arg53fs NC_000009.12:85741806:C: p.(Arg53AlafsTer9) NC_000009.12:85741806:C: p.(Arg53AlafsTer9) NC_000009.12:85741806:C: Analogous +NM_001194937.2:c.1811A>G NP_001181866.1:p.His604Arg NC_000001.11:151411712:T:C p.(His604Arg) NC_000001.11:151411712:T:C p.(His604Arg) NC_000001.11:151411712:T:C Identity +NM_002204.4:c.2155G>A NP_002195.1:p.Ala719Thr NC_000017.11:50078060:G:A p.(Ala719Thr) NC_000017.11:50078060:G:A p.(Ala719Thr) NC_000017.11:50078060:G:A Identity +NM_001306190.2:c.140C>T NP_001293119.1:p.Pro47Leu NC_000009.12:91361749:G:A p.(Pro47Leu) NC_000009.12:91361749:G:A p.(Pro47Leu) NC_000009.12:91361749:G:A Identity +NM_001318785.2:c.888C>G NP_001305714.1:p.His296Gln NC_000006.12:87518631:G:C p.(His296Gln) NC_000006.12:87518631:G:C p.(His296Gln) NC_000006.12:87518631:G:C Identity +NM_003482.4:c.13331G>C NP_003473.3:p.Gly4444Ala NC_000012.12:49031373:C:G p.(Gly4444Ala) NC_000012.12:49031373:C:G p.(Gly4444Ala) NC_000012.12:49031373:C:G Identity +NM_018429.3:c.4636G>T NP_060899.2:p.Val1546Phe NC_000005.10:71515108:G:T p.(Val1546Phe) NC_000005.10:71515108:G:T p.(Val1546Phe) NC_000005.10:71515108:G:T Identity +NM_004586.3:c.48G>C NP_004577.1:p.Glu16Asp NC_000023.11:20266584:C:G p.(Glu16Asp) NC_000023.11:20266584:C:G p.(Glu16Asp) NC_000023.11:20266584:C:G Identity +NM_018938.4:c.764C>T NP_061761.1:p.Pro255Leu NC_000005.10:141122761:C:T p.(Pro255Leu) NC_000005.10:141122761:C:T p.(Pro255Leu) NC_000005.10:141122761:C:T Identity +NM_000089.4:c.1774G>A NP_000080.2:p.Gly592Ser NC_000007.14:94416413:G:A p.(Gly592Ser) NC_000007.14:94416413:G:A p.(Gly592Ser) NC_000007.14:94416413:G:A Identity +NM_015086.2:c.1982A>G NP_055901.2:p.Glu661Gly NC_000012.12:48996893:T:C p.(Glu661Gly) NC_000012.12:48996893:T:C p.(Glu661Gly) NC_000012.12:48996893:T:C Identity +NM_002458.3:c.7312G>A NP_002449.2:p.Glu2438Lys NC_000011.10:1244191:G:A p.(Glu2438Lys) NC_000011.10:1244191:G:A p.(Glu2438Lys) NC_000011.10:1244191:G:A Identity +NM_004667.6:c.5546A>G NP_004658.3:p.Lys1849Arg NC_000015.10:28222133:T:C p.(Lys1849Arg) NC_000015.10:28222133:T:C p.(Lys1849Arg) NC_000015.10:28222133:T:C Identity +NM_024496.4:c.1448G>A NP_078772.1:p.Arg483His NC_000014.9:77026344:C:T p.(Arg483His) NC_000014.9:77026344:C:T p.(Arg483His) NC_000014.9:77026344:C:T Identity +NM_001916.5:c.264G>C NP_001907.3:p.Glu88Asp NC_000008.11:144095966:G:C p.(Glu88Asp) NC_000008.11:144095966:G:C p.(Glu88Asp) NC_000008.11:144095966:G:C Identity +NM_173527.3:c.287G>C NP_775798.2:p.Gly96Ala NC_000014.9:22884856:G:C p.(Gly96Ala) NC_000014.9:22884856:G:C p.(Gly96Ala) NC_000014.9:22884856:G:C Identity +NM_002458.3:c.4415C>T NP_002449.2:p.Pro1472Leu NC_000011.10:1241294:C:T p.(Pro1472Leu) NC_000011.10:1241294:C:T p.(Pro1472Leu) NC_000011.10:1241294:C:T Identity +NM_001281302.2:c.557G>A NP_001268231.1:p.Arg186Gln NC_000005.10:74750636:C:T p.(Arg186Gln) NC_000005.10:74750636:C:T p.(Arg186Gln) NC_000005.10:74750636:C:T Identity +NM_001379141.1:c.575A>G NP_001366070.1:p.His192Arg NC_000018.10:44949914:A:G p.(His192Arg) NC_000018.10:44949914:A:G p.(His192Arg) NC_000018.10:44949914:A:G Identity +NM_002581.5:c.3671C>A NP_002572.2:p.Ser1224Tyr NC_000009.12:116344601:C:A p.(Ser1224Tyr) NC_000009.12:116344601:C:A p.(Ser1224Tyr) NC_000009.12:116344601:C:A Identity +NM_001350630.2:c.2506G>A NP_001337559.1:p.Val836Met NC_000001.11:223004631:G:A p.(Val836Met) NC_000001.11:223004631:G:A p.(Val836Met) NC_000001.11:223004631:G:A Identity +NM_001447.3:c.4711G>A NP_001438.1:p.Gly1571Ser NC_000005.10:151549372:C:T p.(Gly1571Ser) NC_000005.10:151549372:C:T p.(Gly1571Ser) NC_000005.10:151549372:C:T Identity +NM_001136566.3:c.85A>T NP_001130038.2:p.Lys29Ter NC_000020.11:1228537:A:T p.(Lys29Ter) NC_000020.11:1228537:A:T p.(Lys29Ter) NC_000020.11:1228537:A:T Identity +NM_001321137.1:c.58A>T NP_001308066.1:p.Ser20Cys NC_000015.10:76995435:A:T p.(Ser20Cys) NC_000015.10:76995435:A:T p.(Ser20Cys) NC_000015.10:76995435:A:T Identity +NM_024080.5:c.740G>C NP_076985.4:p.Arg247Thr NC_000002.12:233945895:G:C p.(Arg247Thr) NC_000002.12:233945895:G:C p.(Arg247Thr) NC_000002.12:233945895:G:C Identity +NM_005012.4:c.1553C>T NP_005003.2:p.Thr518Met NC_000001.11:64177593:C:T p.(Thr518Met) NC_000001.11:64177593:C:T p.(Thr518Met) NC_000001.11:64177593:C:T Identity +NM_174908.4:c.478G>A NP_777568.1:p.Val160Ile NC_000003.12:191380187:G:A p.(Val160Ile) NC_000003.12:191380187:G:A p.(Val160Ile) NC_000003.12:191380187:G:A Identity +NM_000335.5:c.3913C>G NP_000326.2:p.Arg1305Gly NC_000003.12:38562461:G:C p.(Arg1305Gly) NC_000003.12:38562461:G:C p.(Arg1305Gly) NC_000003.12:38562461:G:C Identity +NM_206933.4:c.8222A>G NP_996816.3:p.Gln2741Arg NC_000001.11:215888426:T:C p.(Gln2741Arg) NC_000001.11:215888426:T:C p.(Gln2741Arg) NC_000001.11:215888426:T:C Identity +NM_206933.4:c.10931C>T NP_996816.3:p.Thr3644Met NC_000001.11:215779850:G:A p.(Thr3644Met) NC_000001.11:215779850:G:A p.(Thr3644Met) NC_000001.11:215779850:G:A Identity +LRG_1428t1:c.1100T>C LRG_1428p1:p.Leu367Ser NC_000007.14:24706266:A:G ERR:Data provider error: ValueError: Transcript LRG_1428t1 not found ERR:Data provider error: ValueError: Transcript LRG_1428t1 not found ERR:AlignmentMapper(tx_ac=LRG_1428t1, alt_ac=LRG_1428t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1428t1, alt_ac=LRG_1428t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1428t1 not found +NM_001367624.2:c.10462G>A NP_001354553.1:p.Glu3488Lys NC_000016.10:88437931:G:A p.(Glu3488Lys) NC_000016.10:88437931:G:A p.(Glu3488Lys) NC_000016.10:88437931:G:A Identity +NM_001127648.2:c.811T>C NP_001121120.1:p.Ser271Pro NC_000005.10:161891004:T:C p.(Ser271Pro) NC_000005.10:161891004:T:C p.(Ser271Pro) NC_000005.10:161891004:T:C Identity +NM_001453.3:c.1102_1109del NP_001444.2:p.Thr368fs NC_000006.12:1611542:CCAGACCTCCAG:CCAG p.(Thr368ArgfsTer157) NC_000006.12:1611542:CCAGACCTCCAG:CCAG p.(Thr368ArgfsTer157) NC_000006.12:1611546:ACCTCCAG: Analogous +NM_000902.5:c.68G>A NP_000893.2:p.Arg23Gln NC_000003.12:155084234:G:A p.(Arg23Gln) NC_000003.12:155084234:G:A p.(Arg23Gln) NC_000003.12:155084234:G:A Identity +LRG_1249t1:c.3403C>T LRG_1249p1:p.Leu1135Phe NC_000010.11:104036506:G:A ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1249t1, alt_ac=LRG_1249t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1249t1 not found +NM_001039671.3:c.576C>A NP_001034760.1:p.Ser192Arg NC_000019.10:38307670:G:T p.(Ser192Arg) NC_000019.10:38307670:G:T p.(Ser192Arg) NC_000019.10:38307670:G:T Identity +NM_001844.5:c.4229C>A NP_001835.3:p.Ala1410Asp NC_000012.12:47974176:G:T p.(Ala1410Asp) NC_000012.12:47974176:G:T p.(Ala1410Asp) NC_000012.12:47974176:G:T Identity +NM_001135.4:c.7212G>T NP_001126.3:p.Lys2404Asn NC_000015.10:88873017:G:T p.(Lys2404Asn) NC_000015.10:88873017:G:T p.(Lys2404Asn) NC_000015.10:88873017:G:T Identity +NM_019066.5:c.2006A>T NP_061939.3:p.Gln669Leu NC_000015.10:23645736:T:A p.(Gln669Leu) NC_000015.10:23645736:T:A p.(Gln669Leu) NC_000015.10:23645736:T:A Identity +NM_015001.3:c.2909C>T NP_055816.2:p.Ala970Val NC_000001.11:15929148:C:T p.(Ala970Val) NC_000001.11:15929148:C:T p.(Ala970Val) NC_000001.11:15929148:C:T Identity +NM_015692.5:c.3466G>A NP_056507.3:p.Val1156Ile NC_000019.10:16925276:C:T p.(Val1156Ile) NC_000019.10:16925276:C:T p.(Val1156Ile) NC_000019.10:16925276:C:T Identity +NM_015375.3:c.1294C>G NP_056190.1:p.Leu432Val NC_000001.11:205169192:G:C p.(Leu432Val) NC_000001.11:205169192:G:C p.(Leu432Val) NC_000001.11:205169192:G:C Identity +NM_000494.4:c.616A>G NP_000485.3:p.Thr206Ala NC_000010.11:104064587:T:C p.(Thr206Ala) NC_000010.11:104064587:T:C p.(Thr206Ala) NC_000010.11:104064587:T:C Identity +NM_001288629.2:c.832C>T NP_001275558.1:p.Pro278Ser NC_000006.12:93410500:G:A p.(Pro278Ser) NC_000006.12:93410500:G:A p.(Pro278Ser) NC_000006.12:93410500:G:A Identity +NM_152448.3:c.434G>A NP_689661.1:p.Ser145Asn NC_000015.10:44966242:G:A p.(Ser145Asn) NC_000015.10:44966242:G:A p.(Ser145Asn) NC_000015.10:44966242:G:A Identity +NM_014466.3:c.136C>T NP_055281.2:p.Arg46Cys NC_000001.11:36085056:C:T p.(Arg46Cys) NC_000001.11:36085056:C:T p.(Arg46Cys) NC_000001.11:36085056:C:T Identity +NM_052928.3:c.392G>T NP_443160.2:p.Arg131Ile NC_000017.11:1801001:C:A p.(Arg131Ile) NC_000017.11:1801001:C:A p.(Arg131Ile) NC_000017.11:1801001:C:A Identity +NM_002458.3:c.14135C>T NP_002449.2:p.Thr4712Met NC_000011.10:1251014:C:T p.(Thr4712Met) NC_000011.10:1251014:C:T p.(Thr4712Met) NC_000011.10:1251014:C:T Identity +NM_006796.3:c.634G>A NP_006787.2:p.Val212Ile NC_000018.10:12360044:C:T p.(Val212Ile) NC_000018.10:12360044:C:T p.(Val212Ile) NC_000018.10:12360044:C:T Identity +NM_000093.5:c.2661C>A NP_000084.3:p.Phe887Leu NC_000009.12:134789168:C:A p.(Phe887Leu) NC_000009.12:134789168:C:A p.(Phe887Leu) NC_000009.12:134789168:C:A Identity +NM_001130847.4:c.8G>A NP_001124319.1:p.Arg3Gln NC_000023.11:130165648:C:T p.(Arg3Gln) NC_000023.11:130165648:C:T p.(Arg3Gln) NC_000023.11:130165648:C:T Identity +NM_001039476.3:c.613G>A NP_001034565.1:p.Ala205Thr NC_000016.10:92606:C:T p.(Ala205Thr) NC_000016.10:92606:C:T p.(Ala205Thr) NC_000016.10:92606:C:T Identity +NM_000387.6:c.425C>T NP_000378.1:p.Ala142Val NC_000003.12:48862651:G:A p.(Ala142Val) NC_000003.12:48862651:G:A p.(Ala142Val) NC_000003.12:48862651:G:A Identity +NM_000388.4:c.1637G>A NP_000379.3:p.Cys546Tyr NC_000003.12:122282140:G:A p.(Cys546Tyr) NC_000003.12:122282140:G:A p.(Cys546Tyr) NC_000003.12:122282140:G:A Identity +NM_153834.4:c.1963A>G NP_722576.3:p.Ile655Val NC_000023.11:136345668:A:G p.(Ile655Val) NC_000023.11:136345668:A:G p.(Ile655Val) NC_000023.11:136345668:A:G Identity +NM_014587.5:c.685A>C NP_055402.2:p.Thr229Pro NC_000016.10:984729:A:C p.(Thr229Pro) NC_000016.10:984729:A:C p.(Thr229Pro) NC_000016.10:984729:A:C Identity +NM_001009944.3:c.4654GTC[1] NP_001009944.3:p.Val1553del NC_000016.10:2110507:GACGACGA:GACGA p.(Val1553del) NC_000016.10:2110512:C:GAC ERR:Parse ERR:Parse Identity +NM_031907.3:c.20G>A NP_114113.1:p.Arg7His NC_000023.11:133028200:C:T p.(Arg7His) NC_000023.11:133028200:C:T p.(Arg7His) NC_000023.11:133028200:C:T Identity +NM_001307944.1:c.215C>T NP_001294873.1:p.Ser72Phe NC_000023.11:75274468:C:T p.(Ser72Phe) NC_000023.11:75274468:C:T p.(Ser72Phe) NC_000023.11:75274468:C:T Identity +NM_199069.2:c.74C>T NP_951032.1:p.Pro25Leu NC_000003.12:49022217:C:T p.(Pro25Leu) NC_000003.12:49022217:C:T p.(Pro25Leu) NC_000003.12:49022217:C:T Identity +NM_016120.4:c.388C>A NP_057204.2:p.Pro130Thr NC_000023.11:74592926:G:T p.(Pro130Thr) NC_000023.11:74592926:G:T p.(Pro130Thr) NC_000023.11:74592926:G:T Identity +NM_017780.4:c.3761A>C NP_060250.2:p.His1254Pro NC_000008.11:60830559:A:C p.(His1254Pro) NC_000008.11:60830559:A:C p.(His1254Pro) NC_000008.11:60830559:A:C Identity +NM_000260.4:c.1669A>G NP_000251.3:p.Ile557Val NC_000011.10:77162966:A:G p.(Ile557Val) NC_000011.10:77162966:A:G p.(Ile557Val) NC_000011.10:77162966:A:G Identity +NM_001142763.2:c.1858C>T NP_001136235.1:p.Arg620Cys NC_000010.11:54132948:G:A p.(Arg620Cys) NC_000010.11:54132948:G:A p.(Arg620Cys) NC_000010.11:54132948:G:A Identity +NM_025082.4:c.24C>A NP_079358.3:p.Ser8Arg NC_000016.10:67833835:G:T p.(Ser8Arg) NC_000016.10:67833835:G:T p.(Ser8Arg) NC_000016.10:67833835:G:T Identity +NM_138694.4:c.7012G>C NP_619639.3:p.Gly2338Arg NC_000006.12:51887229:C:G p.(Gly2338Arg) NC_000006.12:51887229:C:G p.(Gly2338Arg) NC_000006.12:51887229:C:G Identity +NM_001256850.1:c.45370A>C NP_001243779.1:p.Lys15124Gln NC_000002.12:178612117:T:G p.(Lys15124Gln) NC_000002.12:178612117:T:G p.(Lys15124Gln) NC_000002.12:178612117:T:G Identity +NM_005120.3:c.6268C>T NP_005111.2:p.Gln2090Ter NC_000023.11:71141229:C:T p.(Gln2090Ter) NC_000023.11:71141229:C:T p.(Gln2090Ter) NC_000023.11:71141229:C:T Identity +NM_000540.3:c.1459C>G NP_000531.2:p.Leu487Val NC_000019.10:38455252:C:G p.(Leu487Val) NC_000019.10:38455252:C:G p.(Leu487Val) NC_000019.10:38455252:C:G Identity +NM_001193640.2:c.662del NP_001180569.1:p.Gly221fs NC_000001.11:197356838:GG:G p.(Gly221ValfsTer119) NC_000001.11:197356838:GG:G p.(Gly221ValfsTer119) NC_000001.11:197356839:G: Analogous +NM_003573.2:c.2329G>A NP_003564.2:p.Gly777Ser NC_000019.10:40612131:G:A p.(Gly777Ser) NC_000019.10:40612131:G:A p.(Gly777Ser) NC_000019.10:40612131:G:A Identity +NM_001372034.1:c.1565G>A NP_001358963.1:p.Gly522Glu NC_000011.10:112059985:G:A p.(Gly522Glu) NC_000011.10:112059985:G:A p.(Gly522Glu) NC_000011.10:112059985:G:A Identity +NM_001042544.1:c.3569C>T NP_001036009.1:p.Pro1190Leu NC_000019.10:40622550:C:T p.(Pro1190Leu) NC_000019.10:40622550:C:T p.(Pro1190Leu) NC_000019.10:40622550:C:T Identity +NM_080679.3:c.2270C>A NP_542410.2:p.Ser757Tyr NC_000006.12:33173737:G:T p.(Ser757Tyr) NC_000006.12:33173737:G:T p.(Ser757Tyr) NC_000006.12:33173737:G:T Identity +NM_001315529.2:c.5944A>G NP_001302458.1:p.Met1982Val NC_000021.9:46416215:A:G p.(Met1982Val) NC_000021.9:46416215:A:G p.(Met1982Val) NC_000021.9:46416215:A:G Identity +NM_001272003.2:c.3218G>A NP_001258932.1:p.Arg1073His NC_000009.12:135786371:G:A p.(Arg1073His) NC_000009.12:135786371:G:A p.(Arg1073His) NC_000009.12:135786371:G:A Identity +NM_206933.4:c.15240_15243del NP_996816.3:p.Pro5081fs NC_000001.11:215634512:AGGTA:A p.(Pro5081PhefsTer8) NC_000001.11:215634512:AGGTA:A p.(Pro5081PhefsTer8) NC_000001.11:215634512:AGGT: Analogous +NM_001317924.2:c.982C>T NP_001304853.1:p.Leu328Phe NC_000004.12:39218087:C:T p.(Leu328Phe) NC_000004.12:39218087:C:T p.(Leu328Phe) NC_000004.12:39218087:C:T Identity +NM_000314.8:c.44_45del NP_000305.3:p.Arg15fs NC_000010.11:87864510:GAGA:GA p.(Arg15IlefsTer28) NC_000010.11:87864510:GAGA:GA p.(Arg15IlefsTer28) NC_000010.11:87864512:GA: Analogous +NM_001190274.2:c.1286C>A NP_001177203.1:p.Ser429Tyr NC_000002.12:47832460:G:T p.(Ser429Tyr) NC_000002.12:47832460:G:T p.(Ser429Tyr) NC_000002.12:47832460:G:T Identity +NM_000068.4:c.1709T>C NP_000059.3:p.Val570Ala NC_000019.10:13308490:A:G p.(Val570Ala) NC_000019.10:13308490:A:G p.(Val570Ala) NC_000019.10:13308490:A:G Identity +NM_000138.5:c.6806T>A NP_000129.3:p.Ile2269Asn NC_000015.10:48430735:A:T p.(Ile2269Asn) NC_000015.10:48430735:A:T p.(Ile2269Asn) NC_000015.10:48430735:A:T Identity +NM_000360.4:c.1002del NP_000351.2:p.His335fs NC_000011.10:2166524:CCCC:CCC p.(His335ThrfsTer51) NC_000011.10:2166524:CCCC:CCC p.(His335ThrfsTer51) NC_000011.10:2166524:C: Analogous +NM_001365276.2:c.2540G>A NP_001352205.1:p.Arg847Gln NC_000006.12:32089023:C:T p.(Arg847Gln) NC_000006.12:32089023:C:T p.(Arg847Gln) NC_000006.12:32089023:C:T Identity +NM_001367624.2:c.10808G>A NP_001354553.1:p.Arg3603Gln NC_000016.10:88438277:G:A p.(Arg3603Gln) NC_000016.10:88438277:G:A p.(Arg3603Gln) NC_000016.10:88438277:G:A Identity +NM_001271.4:c.3521G>A NP_001262.3:p.Gly1174Asp NC_000015.10:92992923:G:A p.(Gly1174Asp) NC_000015.10:92992923:G:A p.(Gly1174Asp) NC_000015.10:92992923:G:A Identity +NM_001163771.2:c.862T>C NP_001157243.1:p.Ser288Pro NC_000006.12:33186562:A:G p.(Ser288Pro) NC_000006.12:33186562:A:G p.(Ser288Pro) NC_000006.12:33186562:A:G Identity +NM_001378923.1:c.154G>A NP_001365852.1:p.Ala52Thr NC_000009.12:35792561:G:A p.(Ala52Thr) NC_000009.12:35792561:G:A p.(Ala52Thr) NC_000009.12:35792561:G:A Identity +NM_001362843.2:c.6695A>T NP_001349772.1:p.Gln2232Leu NC_000022.11:41178483:A:T p.(Gln2232Leu) NC_000022.11:41178483:A:T p.(Gln2232Leu) NC_000022.11:41178483:A:T Identity +NM_001164317.2:c.4488G>C NP_001157789.1:p.Leu1496Phe NC_000003.12:58132811:G:C p.(Leu1496Phe) NC_000003.12:58132811:G:C p.(Leu1496Phe) NC_000003.12:58132811:G:C Identity +NM_001243313.2:c.3628T>G NP_001230242.1:p.Cys1210Gly NC_000002.12:218699234:T:G p.(Cys1210Gly) NC_000002.12:218699234:T:G p.(Cys1210Gly) NC_000002.12:218699234:T:G Identity +NM_002016.2:c.6787G>A NP_002007.1:p.Ala2263Thr NC_000001.11:152308098:C:T p.(Ala2263Thr) NC_000001.11:152308098:C:T p.(Ala2263Thr) NC_000001.11:152308098:C:T Identity +NM_001300845.2:c.178C>G NP_001287774.1:p.Arg60Gly NC_000001.11:234231517:C:G p.(Arg60Gly) NC_000001.11:234231517:C:G p.(Arg60Gly) NC_000001.11:234231517:C:G Identity +NM_001201550.3:c.375G>T NP_001188479.1:p.Glu125Asp NC_000001.11:196905225:G:T p.(Glu125Asp) NC_000001.11:196905225:G:T p.(Glu125Asp) NC_000001.11:196905225:G:T Identity +NM_001321838.2:c.757_758del NP_001308767.1:p.Leu253fs NC_000008.11:60222337:AGA:A p.(Leu253GlyfsTer55) NC_000008.11:60222337:AGA:A p.(Leu253GlyfsTer55) NC_000008.11:60222337:AG: Analogous +NM_001260474.2:c.1166G>A NP_001247403.1:p.Arg389Gln NC_000021.9:42850118:C:T p.(Arg389Gln) NC_000021.9:42850118:C:T p.(Arg389Gln) NC_000021.9:42850118:C:T Identity +NM_001282531.3:c.535A>G NP_001269460.1:p.Ile179Val NC_000020.11:50894178:T:C p.(Ile179Val) NC_000020.11:50894178:T:C p.(Ile179Val) NC_000020.11:50894178:T:C Identity +NM_001287819.3:c.3047G>T NP_001274748.1:p.Arg1016Leu NC_000001.11:196258285:C:A p.(Arg1016Leu) NC_000001.11:196258285:C:A p.(Arg1016Leu) NC_000001.11:196258285:C:A Identity +NM_001145128.3:c.2443C>T NP_001138600.2:p.Pro815Ser NC_000006.12:109564271:G:A p.(Pro815Ser) NC_000006.12:109564271:G:A p.(Pro815Ser) NC_000006.12:109564271:G:A Identity +NM_005245.4:c.3190A>G NP_005236.2:p.Arg1064Gly NC_000004.12:186706637:T:C p.(Arg1064Gly) NC_000004.12:186706637:T:C p.(Arg1064Gly) NC_000004.12:186706637:T:C Identity +NM_001282531.3:c.1163C>T NP_001269460.1:p.Ala388Val NC_000020.11:50893550:G:A p.(Ala388Val) NC_000020.11:50893550:G:A p.(Ala388Val) NC_000020.11:50893550:G:A Identity +NM_001077527.3:c.89C>T NP_001070995.2:p.Thr30Met NC_000008.11:142665969:G:A p.(Thr30Met) NC_000008.11:142665969:G:A p.(Thr30Met) NC_000008.11:142665969:G:A Identity +NM_024312.5:c.3653del NP_077288.2:p.Thr1218fs NC_000012.12:101749140:G: p.(Thr1218AsnfsTer2) NC_000012.12:101749140:G: p.(Thr1218AsnfsTer2) NC_000012.12:101749140:G: Analogous +NM_015368.4:c.814A>G NP_056183.2:p.Ile272Val NC_000011.10:94179869:A:G p.(Ile272Val) NC_000011.10:94179869:A:G p.(Ile272Val) NC_000011.10:94179869:A:G Identity +NM_001271022.2:c.338C>T NP_001257951.1:p.Pro113Leu NC_000003.12:48457305:C:T p.(Pro113Leu) NC_000003.12:48457305:C:T p.(Pro113Leu) NC_000003.12:48457305:C:T Identity +NM_002016.2:c.10735A>G NP_002007.1:p.Thr3579Ala NC_000001.11:152304150:T:C p.(Thr3579Ala) NC_000001.11:152304150:T:C p.(Thr3579Ala) NC_000001.11:152304150:T:C Identity +NM_001321851.1:c.760C>T NP_001308780.1:p.Arg254Ter NC_000014.9:92015755:G:A p.(Arg254Ter) NC_000014.9:92015755:G:A p.(Arg254Ter) NC_000014.9:92015755:G:A Identity +NM_001199144.2:c.2419T>A NP_001186073.1:p.Phe807Ile NC_000002.12:167244476:T:A p.(Phe807Ile) NC_000002.12:167244476:T:A p.(Phe807Ile) NC_000002.12:167244476:T:A Identity +NM_004205.5:c.550G>A NP_004196.4:p.Gly184Arg NC_000011.10:119372930:C:T p.(Gly184Arg) NC_000011.10:119372930:C:T p.(Gly184Arg) NC_000011.10:119372930:C:T Identity +NM_005245.4:c.6822C>G NP_005236.2:p.Asp2274Glu NC_000004.12:186619763:G:C p.(Asp2274Glu) NC_000004.12:186619763:G:C p.(Asp2274Glu) NC_000004.12:186619763:G:C Identity +NM_001354263.2:c.3308C>T NP_001341192.1:p.Ser1103Phe NC_000009.12:137816016:C:T p.(Ser1103Phe) NC_000009.12:137816016:C:T p.(Ser1103Phe) NC_000009.12:137816016:C:T Identity +NM_021978.4:c.1444G>A NP_068813.1:p.Asp482Asn NC_000011.10:130197929:G:A p.(Asp482Asn) NC_000011.10:130197929:G:A p.(Asp482Asn) NC_000011.10:130197929:G:A Identity +NM_001350748.2:c.2854T>A NP_001337677.1:p.Tyr952Asn NC_000013.11:101104416:A:T p.(Tyr952Asn) NC_000013.11:101104416:A:T p.(Tyr952Asn) NC_000013.11:101104416:A:T Identity +NM_003737.4:c.2954G>A NP_003728.1:p.Arg985Gln NC_000011.10:6632557:C:T p.(Arg985Gln) NC_000011.10:6632557:C:T p.(Arg985Gln) NC_000011.10:6632557:C:T Identity +NM_001367473.1:c.338G>A NP_001354402.1:p.Arg113His NC_000001.11:6428268:G:A p.(Arg113His) NC_000001.11:6428268:G:A p.(Arg113His) NC_000001.11:6428268:G:A Identity +NM_001198868.2:c.1298G>C NP_001185797.1:p.Arg433Pro NC_000011.10:65204814:G:C p.(Arg433Pro) NC_000011.10:65204814:G:C p.(Arg433Pro) NC_000011.10:65204814:G:C Identity +NM_001272037.2:c.403C>T NP_001258966.1:p.Arg135Trp NC_000021.9:44531068:G:A p.(Arg135Trp) NC_000021.9:44531068:G:A p.(Arg135Trp) NC_000021.9:44531068:G:A Identity +NM_001099952.4:c.6296G>C NP_001093422.2:p.Gly2099Ala NC_000003.12:4782670:G:C p.(Gly2099Ala) NC_000003.12:4782670:G:C p.(Gly2099Ala) NC_000003.12:4782670:G:C Identity +NM_030662.4:c.928A>G NP_109587.1:p.Met310Val NC_000019.10:4097334:T:C p.(Met310Val) NC_000019.10:4097334:T:C p.(Met310Val) NC_000019.10:4097334:T:C Identity +NM_000104.4:c.1310C>T NP_000095.2:p.Pro437Leu NC_000002.12:38071043:G:A p.(Pro437Leu) NC_000002.12:38071043:G:A p.(Pro437Leu) NC_000002.12:38071043:G:A Identity +NM_001193455.2:c.1135C>A NP_001180384.1:p.Pro379Thr NC_000005.10:6609908:G:T p.(Pro379Thr) NC_000005.10:6609908:G:T p.(Pro379Thr) NC_000005.10:6609908:G:T Identity +NM_019601.4:c.1397A>G NP_062547.1:p.Asn466Ser NC_000022.11:24186072:A:G p.(Asn466Ser) NC_000022.11:24186072:A:G p.(Asn466Ser) NC_000022.11:24186072:A:G Identity +NM_001170538.1:c.961C>T NP_001164009.1:p.Arg321Trp NC_000003.12:138088416:G:A p.(Arg321Trp) NC_000003.12:138088416:G:A p.(Arg321Trp) NC_000003.12:138088416:G:A Identity +NM_001368062.3:c.4841C>T NP_001354991.2:p.Ser1614Phe NC_000012.12:80339189:C:T p.(Ser1614Phe) NC_000012.12:80339189:C:T p.(Ser1614Phe) NC_000012.12:80339189:C:T Identity +NM_002473.6:c.2618C>T NP_002464.1:p.Thr873Met NC_000022.11:36301546:G:A p.(Thr873Met) NC_000022.11:36301546:G:A p.(Thr873Met) NC_000022.11:36301546:G:A Identity +NM_138694.4:c.422A>G NP_619639.3:p.Gln141Arg NC_000006.12:52076301:T:C p.(Gln141Arg) NC_000006.12:52076301:T:C p.(Gln141Arg) NC_000006.12:52076301:T:C Identity +NM_001347721.2:c.2011T>C NP_001334650.1:p.Tyr671His NC_000021.9:37512276:T:C p.(Tyr671His) NC_000021.9:37512276:T:C p.(Tyr671His) NC_000021.9:37512276:T:C Identity +NM_000296.4:c.11552T>C NP_000287.4:p.Leu3851Pro NC_000016.10:2091579:A:G p.(Leu3851Pro) NC_000016.10:2091579:A:G p.(Leu3851Pro) NC_000016.10:2091579:A:G Identity +NM_015335.5:c.553C>T NP_056150.1:p.Gln185Ter NC_000012.12:116022527:G:A p.(Gln185Ter) NC_000012.12:116022527:G:A p.(Gln185Ter) NC_000012.12:116022527:G:A Identity +NM_001350748.2:c.641C>A NP_001337677.1:p.Pro214Gln NC_000013.11:101376702:G:T p.(Pro214Gln) NC_000013.11:101376702:G:T p.(Pro214Gln) NC_000013.11:101376702:G:T Identity +NM_007214.5:c.1817_1821del NP_009145.1:p.Asn606fs NC_000006.12:107882999:TTTGTTTTGTTTT:TTTGTTTT p.(Asn606ArgfsTer2) NC_000006.12:107882999:TTTGTTTTGTTTT:TTTGTTTT p.(Asn606ArgfsTer2) NC_000006.12:107882999:TTTGT: Analogous +NM_001080394.4:c.2265del NP_001073863.1:p.Cys756fs NC_000008.11:47713563:CC:C p.(Cys756ValfsTer7) NC_000008.11:47713563:CC:C p.(Cys756ValfsTer7) NC_000008.11:47713564:C: Analogous +NM_001282621.2:c.377C>T NP_001269550.1:p.Thr126Ile NC_000023.11:119243198:C:T p.(Thr126Ile) NC_000023.11:119243198:C:T p.(Thr126Ile) NC_000023.11:119243198:C:T Identity +NM_001256850.1:c.6608T>C NP_001243779.1:p.Val2203Ala NC_000002.12:178775102:A:G p.(Val2203Ala) NC_000002.12:178775102:A:G p.(Val2203Ala) NC_000002.12:178775102:A:G Identity +NM_018847.4:c.1394G>A NP_061335.1:p.Cys465Tyr NC_000009.12:21333465:C:T p.(Cys465Tyr) NC_000009.12:21333465:C:T p.(Cys465Tyr) NC_000009.12:21333465:C:T Identity +NM_000296.4:c.6210del NP_000287.4:p.Cys2071fs NC_000016.10:2108956:GGGG:GGG p.(Cys2071AlafsTer45) NC_000016.10:2108956:GGGG:GGG p.(Cys2071AlafsTer45) NC_000016.10:2108956:G: Analogous +NM_002440.4:c.2728C>T NP_002431.2:p.Arg910Ter NC_000001.11:75912803:C:T p.(Arg910Ter) NC_000001.11:75912803:C:T p.(Arg910Ter) NC_000001.11:75912803:C:T Identity +NM_138694.4:c.4475C>T NP_619639.3:p.Ser1492Phe NC_000006.12:52025334:G:A p.(Ser1492Phe) NC_000006.12:52025334:G:A p.(Ser1492Phe) NC_000006.12:52025334:G:A Identity +NM_001004311.3:c.319C>T NP_001004311.2:p.Leu107Phe NC_000002.12:70787713:G:A p.(Leu107Phe) NC_000002.12:70787713:G:A p.(Leu107Phe) NC_000002.12:70787713:G:A Identity +NM_001001329.3:c.96T>G NP_001001329.1:p.Asp32Glu NC_000019.10:11436404:T:G p.(Asp32Glu) NC_000019.10:11436404:T:G p.(Asp32Glu) NC_000019.10:11436404:T:G Identity +NM_001001438.3:c.857A>G NP_001001438.1:p.Tyr286Cys NC_000021.9:46215719:T:C p.(Tyr286Cys) NC_000021.9:46215719:T:C p.(Tyr286Cys) NC_000021.9:46215719:T:C Identity +NM_000435.3:c.1368_1369del NP_000426.2:p.Ile456fs NC_000019.10:15188997:AGA:A p.(Ile456MetfsTer15) NC_000019.10:15188997:AGA:A p.(Ile456MetfsTer15) NC_000019.10:15188997:AG: Analogous +NM_000445.5:c.878C>T NP_000436.2:p.Pro293Leu NC_000008.11:143935038:G:A p.(Pro293Leu) NC_000008.11:143935038:G:A p.(Pro293Leu) NC_000008.11:143935038:G:A Identity +NM_000458.4:c.374T>A NP_000449.1:p.Ile125Asn NC_000017.11:37739609:A:T p.(Ile125Asn) NC_000017.11:37739609:A:T p.(Ile125Asn) NC_000017.11:37739609:A:T Identity +NM_030632.3:c.3853A>C NP_085135.1:p.Ile1285Leu NC_000018.10:33743700:A:C p.(Ile1285Leu) NC_000018.10:33743700:A:C p.(Ile1285Leu) NC_000018.10:33743700:A:C Identity +NM_001252675.2:c.1429G>A NP_001239604.1:p.Val477Ile NC_000020.11:25013977:C:T p.(Val477Ile) NC_000020.11:25013977:C:T p.(Val477Ile) NC_000020.11:25013977:C:T Identity +NM_000531.6:c.970_979del NP_000522.3:p.Phe324fs NC_000023.11:38411962:GTTCCCAGAGG:G p.(Phe324GlnfsTer16) NC_000023.11:38411962:GTTCCCAGAGG:G p.(Phe324GlnfsTer16) NC_000023.11:38411963:TTCCCAGAGG: Analogous +NM_001256850.1:c.90793C>T NP_001243779.1:p.Pro30265Ser NC_000002.12:178545393:G:A p.(Pro30265Ser) NC_000002.12:178545393:G:A p.(Pro30265Ser) NC_000002.12:178545393:G:A Identity +NM_001145770.3:c.490C>A NP_001139242.1:p.Pro164Thr NC_000016.10:57653204:C:A p.(Pro164Thr) NC_000016.10:57653204:C:A p.(Pro164Thr) NC_000016.10:57653204:C:A Identity +NM_006946.4:c.7051C>T NP_008877.2:p.Arg2351Trp NC_000011.10:66685992:G:A p.(Arg2351Trp) NC_000011.10:66685992:G:A p.(Arg2351Trp) NC_000011.10:66685992:G:A Identity +NM_020435.4:c.377C>T NP_065168.2:p.Ala126Val NC_000001.11:228158134:C:T p.(Ala126Val) NC_000001.11:228158134:C:T p.(Ala126Val) NC_000001.11:228158134:C:T Identity +NM_033071.5:c.22186A>T NP_149062.2:p.Thr7396Ser NC_000006.12:152213706:T:A p.(Thr7396Ser) NC_000006.12:152213706:T:A p.(Thr7396Ser) NC_000006.12:152213706:T:A Identity +NM_001353161.3:c.2239_2242del NP_001340090.1:p.Lys747fs NC_000013.11:20051571:AGAAAG:AG p.(Lys747AspfsTer18) NC_000013.11:20051571:AGAAAG:AG p.(Lys747AspfsTer18) NC_000013.11:20051573:AAAG: Analogous +NM_001122961.3:c.47A>T NP_001116433.1:p.Lys16Ile NC_000001.11:109108035:T:A p.(Lys16Ile) NC_000001.11:109108035:T:A p.(Lys16Ile) NC_000001.11:109108035:T:A Identity +NM_001105243.2:c.600_603dup NP_001098713.1:p.Ser202fs NC_000023.11:100407994:CTGC:CTGCCTGC p.(Ser202AlafsTer25) NC_000023.11:100407994:CTGC:CTGCCTGC p.(Ser202AlafsTer25) ERR:SPDI Analogous +NM_001177311.2:c.5C>T NP_001170782.1:p.Thr2Ile NC_000009.12:74887243:G:A p.(Thr2Ile) NC_000009.12:74887243:G:A p.(Thr2Ile) NC_000009.12:74887243:G:A Identity +NM_001365276.2:c.10960T>G NP_001352205.1:p.Ser3654Ala NC_000006.12:32044683:A:C p.(Ser3654Ala) NC_000006.12:32044683:A:C p.(Ser3654Ala) NC_000006.12:32044683:A:C Identity +NM_002016.2:c.1555C>A NP_002007.1:p.His519Asn NC_000001.11:152313330:G:T p.(His519Asn) NC_000001.11:152313330:G:T p.(His519Asn) NC_000001.11:152313330:G:T Identity +NM_001190964.4:c.1607del NP_001177893.1:p.Cys536fs NC_000013.11:20026633:G: p.(Cys536LeufsTer13) NC_000013.11:20026633:G: p.(Cys536LeufsTer13) NC_000013.11:20026633:G: Analogous +NM_001137604.3:c.716C>T NP_001131076.1:p.Ser239Leu NC_000002.12:112551895:C:T p.(Ser239Leu) NC_000002.12:112551895:C:T p.(Ser239Leu) NC_000002.12:112551895:C:T Identity +NM_014241.4:c.190G>C NP_055056.3:p.Glu64Gln NC_000010.11:17617149:C:G p.(Glu64Gln) NC_000010.11:17617149:C:G p.(Glu64Gln) NC_000010.11:17617149:C:G Identity +NM_001395206.1:c.379A>G NP_001382135.1:p.Ile127Val NC_000008.11:39982714:A:G p.(Ile127Val) NC_000008.11:39982714:A:G p.(Ile127Val) NC_000008.11:39982714:A:G Identity +NM_173628.4:c.2374A>G NP_775899.3:p.Ile792Val NC_000017.11:78551551:T:C p.(Ile792Val) NC_000017.11:78551551:T:C p.(Ile792Val) NC_000017.11:78551551:T:C Identity +NM_001130103.2:c.1573G>A NP_001123575.1:p.Val525Met NC_000010.11:69930474:G:A p.(Val525Met) NC_000010.11:69930474:G:A p.(Val525Met) NC_000010.11:69930474:G:A Identity +NM_024867.4:c.220G>A NP_079143.3:p.Gly74Ser NC_000005.10:35641488:G:A p.(Gly74Ser) NC_000005.10:35641488:G:A p.(Gly74Ser) NC_000005.10:35641488:G:A Identity +NM_002016.2:c.5896G>A NP_002007.1:p.Gly1966Ser NC_000001.11:152308989:C:T p.(Gly1966Ser) NC_000001.11:152308989:C:T p.(Gly1966Ser) NC_000001.11:152308989:C:T Identity +NM_023010.4:c.684_685del NP_075386.1:p.Glu230fs NC_000023.11:119841197:TTT:T p.(Glu230ArgfsTer35) NC_000023.11:119841197:TTT:T p.(Glu230ArgfsTer35) NC_000023.11:119841197:TT: Analogous +NM_001291088.2:c.3533A>G NP_001278017.1:p.Gln1178Arg NC_000019.10:37890137:T:C p.(Gln1178Arg) NC_000019.10:37890137:T:C p.(Gln1178Arg) NC_000019.10:37890137:T:C Identity +NM_014208.3:c.3742A>G NP_055023.2:p.Asn1248Asp NC_000004.12:87616403:A:G p.(Asn1248Asp) NC_000004.12:87616403:A:G p.(Asn1248Asp) NC_000004.12:87616403:A:G Identity +NM_001168407.2:c.86G>A NP_001161879.1:p.Arg29Gln NC_000006.12:72213207:G:A p.(Arg29Gln) NC_000006.12:72213207:G:A p.(Arg29Gln) NC_000006.12:72213207:G:A Identity +NM_001256850.1:c.23135C>T NP_001243779.1:p.Pro7712Leu NC_000002.12:178719303:G:A p.(Pro7712Leu) NC_000002.12:178719303:G:A p.(Pro7712Leu) NC_000002.12:178719303:G:A Identity +NM_001035.3:c.4148G>A NP_001026.2:p.Arg1383His NC_000001.11:237590979:G:A p.(Arg1383His) NC_000001.11:237590979:G:A p.(Arg1383His) NC_000001.11:237590979:G:A Identity +NM_003104.6:c.328C>T NP_003095.2:p.Arg110Ter NC_000015.10:45061128:C:T p.(Arg110Ter) NC_000015.10:45061128:C:T p.(Arg110Ter) NC_000015.10:45061128:C:T Identity +NM_000342.4:c.2716G>T NP_000333.1:p.Glu906Ter NC_000017.11:44250477:C:A p.(Glu906Ter) NC_000017.11:44250477:C:A p.(Glu906Ter) NC_000017.11:44250477:C:A Identity +NM_001077261.4:c.5065G>A NP_001070729.2:p.Ala1689Thr NC_000012.12:124341915:C:T p.(Ala1689Thr) NC_000012.12:124341915:C:T p.(Ala1689Thr) NC_000012.12:124341915:C:T Identity +NM_001330153.2:c.1502C>T NP_001317082.1:p.Ala501Val NC_000012.12:109945335:G:A p.(Ala501Val) NC_000012.12:109945335:G:A p.(Ala501Val) NC_000012.12:109945335:G:A Identity +NM_001257144.2:c.2538C>T NP_001244073.1:p.Gly846= NC_000012.12:31103582:C:T p.(Gly846=) NC_000012.12:31103582:C:T p.(Gly846=) NC_000012.12:31103582:C:T Identity +NM_015692.5:c.3803C>T NP_056507.3:p.Thr1268Ile NC_000019.10:16914481:G:A p.(Thr1268Ile) NC_000019.10:16914481:G:A p.(Thr1268Ile) NC_000019.10:16914481:G:A Identity +NM_001378356.1:c.726G>A NP_001365285.1:p.Gly242= NC_000006.12:118917738:C:T p.(Gly242=) NC_000006.12:118917738:C:T p.(Gly242=) NC_000006.12:118917738:C:T Identity +NM_001256850.1:c.44242G>A NP_001243779.1:p.Glu14748Lys NC_000002.12:178614231:C:T p.(Glu14748Lys) NC_000002.12:178614231:C:T p.(Glu14748Lys) NC_000002.12:178614231:C:T Identity +NM_199037.5:c.794G>A NP_950238.1:p.Arg265Gln NC_000019.10:35034084:G:A p.(Arg265Gln) NC_000019.10:35034084:G:A p.(Arg265Gln) NC_000019.10:35034084:G:A Identity +NM_001365684.2:c.6979G>A NP_001352613.2:p.Val2327Ile NC_000005.10:177295219:G:A p.(Val2327Ile) NC_000005.10:177295219:G:A p.(Val2327Ile) NC_000005.10:177295219:G:A Identity +NM_004839.4:c.539G>A NP_004830.2:p.Arg180Gln NC_000015.10:82854755:C:T p.(Arg180Gln) NC_000015.10:82854755:C:T p.(Arg180Gln) NC_000015.10:82854755:C:T Identity +NM_000784.4:c.784C>T NP_000775.1:p.Arg262Cys NC_000002.12:218812688:C:T p.(Arg262Cys) NC_000002.12:218812688:C:T p.(Arg262Cys) NC_000002.12:218812688:C:T Identity +NM_005585.5:c.1395_1404del NP_005576.3:p.Ile466fs NC_000015.10:66781438:CATCAGCTTC: p.(Ile466ProfsTer70) NC_000015.10:66781438:CATCAGCTTC: p.(Ile466ProfsTer70) NC_000015.10:66781438:CATCAGCTTC: Analogous +NM_001178117.2:c.223_224insGGGGG NP_001171588.1:p.Glu75fs NC_000010.11:87505136:GG:GGGGGGG p.(Glu75GlyfsTer30) NC_000010.11:87505137:G:GGGGG p.(Glu75GlyfsTer30) NC_000010.11:87505138:GA:GGGGG Analogous +NM_014727.3:c.1493C>A NP_055542.1:p.Thr498Asn NC_000019.10:35720839:C:A p.(Thr498Asn) NC_000019.10:35720839:C:A p.(Thr498Asn) NC_000019.10:35720839:C:A Identity +NM_001286734.2:c.5657G>C NP_001273663.1:p.Ser1886Thr NC_000004.12:103140835:C:G p.(Ser1886Thr) NC_000004.12:103140835:C:G p.(Ser1886Thr) NC_000004.12:103140835:C:G Identity +NM_206933.4:c.14289del NP_996816.3:p.Ile4764fs NC_000001.11:215650645:CCC:CC p.(Ile4764SerfsTer42) NC_000001.11:215650645:CCC:CC p.(Ile4764SerfsTer42) NC_000001.11:215650645:C: Analogous +NM_001144769.5:c.11110G>C NP_001138241.1:p.Ala3704Pro NC_000006.12:56529575:C:G p.(Ala3704Pro) NC_000006.12:56529575:C:G p.(Ala3704Pro) NC_000006.12:56529575:C:G Identity +NM_001048181.3:c.853G>A NP_001041646.1:p.Ala285Thr NC_000023.11:154230655:G:A p.(Ala285Thr) NC_000023.11:154230655:G:A p.(Ala285Thr) NC_000023.11:154230655:G:A Identity +NM_005559.4:c.842G>A NP_005550.2:p.Trp281Ter NC_000018.10:7046293:C:T p.(Trp281Ter) NC_000018.10:7046293:C:T p.(Trp281Ter) NC_000018.10:7046293:C:T Identity +NM_000256.3:c.3017C>A NP_000247.2:p.Thr1006Asn NC_000011.10:47333729:G:T p.(Thr1006Asn) NC_000011.10:47333729:G:T p.(Thr1006Asn) NC_000011.10:47333729:G:T Identity +NM_000364.4:c.517G>C NP_000355.2:p.Glu173Gln NC_000001.11:201363378:C:G p.(Glu173Gln) NC_000001.11:201363378:C:G p.(Glu173Gln) NC_000001.11:201363378:C:G Identity +NM_020655.4:c.406G>A NP_065706.2:p.Gly136Ser NC_000016.10:87644280:G:A p.(Gly136Ser) NC_000016.10:87644280:G:A p.(Gly136Ser) NC_000016.10:87644280:G:A Identity +NM_001256850.1:c.46000C>A NP_001243779.1:p.Pro15334Thr NC_000002.12:178611205:G:T p.(Pro15334Thr) NC_000002.12:178611205:G:T p.(Pro15334Thr) NC_000002.12:178611205:G:T Identity +NM_138690.3:c.1730C>T NP_619635.1:p.Thr577Met NC_000019.10:1005230:C:T p.(Thr577Met) NC_000019.10:1005230:C:T p.(Thr577Met) NC_000019.10:1005230:C:T Identity +NM_001350505.2:c.1733G>A NP_001337434.1:p.Arg578His NC_000006.12:87514297:C:T p.(Arg578His) NC_000006.12:87514297:C:T p.(Arg578His) NC_000006.12:87514297:C:T Identity +NM_001301161.2:c.1252C>T NP_001288090.1:p.Leu418Phe NC_000007.14:106017934:C:T p.(Leu418Phe) NC_000007.14:106017934:C:T p.(Leu418Phe) NC_000007.14:106017934:C:T Identity +NM_001256850.1:c.17426A>G NP_001243779.1:p.Glu5809Gly NC_000002.12:178729875:T:C p.(Glu5809Gly) NC_000002.12:178729875:T:C p.(Glu5809Gly) NC_000002.12:178729875:T:C Identity +NM_001256850.1:c.3071T>G NP_001243779.1:p.Val1024Gly NC_000002.12:178782834:A:C p.(Val1024Gly) NC_000002.12:178782834:A:C p.(Val1024Gly) NC_000002.12:178782834:A:C Identity +NM_000257.4:c.5470A>G NP_000248.2:p.Asn1824Asp NC_000014.9:23415083:T:C p.(Asn1824Asp) NC_000014.9:23415083:T:C p.(Asn1824Asp) NC_000014.9:23415083:T:C Identity +NM_001252204.2:c.3358C>A NP_001239133.1:p.Pro1120Thr NC_000006.12:31996081:C:A p.(Pro1120Thr) NC_000006.12:31996081:C:A p.(Pro1120Thr) NC_000006.12:31996081:C:A Identity +LRG_386t1:c.3257_3258dup LRG_386p1:p.Lys1087fs NC_000011.10:47333265:CC:CCCC ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:Data provider error: ValueError: Transcript LRG_386t1 not found ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_386t1, alt_ac=LRG_386t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_386t1 not found +NM_001382394.1:c.1268A>G NP_001369323.1:p.Asp423Gly NC_000002.12:39023138:T:C p.(Asp423Gly) NC_000002.12:39023138:T:C p.(Asp423Gly) NC_000002.12:39023138:T:C Identity +NM_000481.4:c.889C>T NP_000472.2:p.Arg297Ter NC_000003.12:49417961:G:A p.(Arg297Ter) NC_000003.12:49417961:G:A p.(Arg297Ter) NC_000003.12:49417961:G:A Identity +NM_001098623.2:c.18814C>T NP_001092093.2:p.Pro6272Ser NC_000001.11:228362727:C:T p.(Pro6272Ser) NC_000001.11:228362727:C:T p.(Pro6272Ser) NC_000001.11:228362727:C:T Identity +NM_000908.4:c.1088A>T NP_000899.1:p.Asp363Val NC_000005.10:32774735:A:T p.(Asp363Val) NC_000005.10:32774735:A:T p.(Asp363Val) NC_000005.10:32774735:A:T Identity +NM_001256532.1:c.1426C>T NP_001243461.1:p.Pro476Ser NC_000001.11:155613693:C:T p.(Pro476Ser) NC_000001.11:155613693:C:T p.(Pro476Ser) NC_000001.11:155613693:C:T Identity +NM_001145026.2:c.4207G>A NP_001138498.1:p.Val1403Ile NC_000012.12:80549655:G:A p.(Val1403Ile) NC_000012.12:80549655:G:A p.(Val1403Ile) NC_000012.12:80549655:G:A Identity +NM_005357.4:c.650G>A NP_005348.2:p.Arg217Gln NC_000019.10:42426499:C:T p.(Arg217Gln) NC_000019.10:42426499:C:T p.(Arg217Gln) NC_000019.10:42426499:C:T Identity +NM_001077516.2:c.578T>A NP_001070984.1:p.Leu193His NC_000006.12:33201910:T:A p.(Leu193His) NC_000006.12:33201910:T:A p.(Leu193His) NC_000006.12:33201910:T:A Identity +NM_001304286.2:c.1304G>A NP_001291215.1:p.Arg435His NC_000017.11:37687349:C:T p.(Arg435His) NC_000017.11:37687349:C:T p.(Arg435His) NC_000017.11:37687349:C:T Identity +NM_000441.2:c.614G>T NP_000432.1:p.Gly205Val NC_000007.14:107674957:G:T p.(Gly205Val) NC_000007.14:107674957:G:T p.(Gly205Val) NC_000007.14:107674957:G:T Identity +NM_001301110.2:c.4108A>G NP_001288039.1:p.Thr1370Ala NC_000015.10:84014675:A:G p.(Thr1370Ala) NC_000015.10:84014675:A:G p.(Thr1370Ala) NC_000015.10:84014675:A:G Identity +NM_001256532.1:c.1588G>A NP_001243461.1:p.Asp530Asn NC_000001.11:155614150:G:A p.(Asp530Asn) NC_000001.11:155614150:G:A p.(Asp530Asn) NC_000001.11:155614150:G:A Identity +NM_001284338.2:c.97A>G NP_001271267.1:p.Met33Val NC_000015.10:55916734:T:C p.(Met33Val) NC_000015.10:55916734:T:C p.(Met33Val) NC_000015.10:55916734:T:C Identity +NM_017780.4:c.4720A>T NP_060250.2:p.Met1574Leu NC_000008.11:60841921:A:T p.(Met1574Leu) NC_000008.11:60841921:A:T p.(Met1574Leu) NC_000008.11:60841921:A:T Identity +NM_005618.4:c.1964G>A NP_005609.3:p.Arg655Lys NC_000006.12:170283314:C:T p.(Arg655Lys) NC_000006.12:170283314:C:T p.(Arg655Lys) NC_000006.12:170283314:C:T Identity +NM_001278463.2:c.753T>A NP_001265392.1:p.Asp251Glu NC_000012.12:32720675:T:A p.(Asp251Glu) NC_000012.12:32720675:T:A p.(Asp251Glu) NC_000012.12:32720675:T:A Identity +NM_001040439.2:c.1759T>A NP_001035529.1:p.Tyr587Asn NC_000016.10:1762887:T:A p.(Tyr587Asn) NC_000016.10:1762887:T:A p.(Tyr587Asn) NC_000016.10:1762887:T:A Identity +NM_000135.4:c.2201C>T NP_000126.2:p.Ser734Phe NC_000016.10:89770584:G:A p.(Ser734Phe) NC_000016.10:89770584:G:A p.(Ser734Phe) NC_000016.10:89770584:G:A Identity +NM_000251.3:c.2267_2268insAGAA NP_000242.1:p.Tyr757fs NC_000002.12:47478328::AGAA p.(Tyr757GlufsTer31) NC_000002.12:47478327:C:AGAA p.(Tyr757GlufsTer31) NC_000002.12:47478328:CC:AGAA Analogous +NM_032806.6:c.998G>A NP_116195.2:p.Arg333Gln NC_000003.12:43080433:C:T p.(Arg333Gln) NC_000003.12:43080433:C:T p.(Arg333Gln) NC_000003.12:43080433:C:T Identity +NM_144691.4:c.1000A>G NP_653292.2:p.Thr334Ala NC_000019.10:38737603:T:C p.(Thr334Ala) NC_000019.10:38737603:T:C p.(Thr334Ala) NC_000019.10:38737603:T:C Identity +NM_001320269.2:c.418A>G NP_001307198.1:p.Thr140Ala NC_000001.11:62266748:T:C p.(Thr140Ala) NC_000001.11:62266748:T:C p.(Thr140Ala) NC_000001.11:62266748:T:C Identity +NM_001034853.2:c.2420_2435del NP_001030025.1:p.Glu807fs NC_000023.11:38286563:CCTCCCTCCTCTTTTTCCTCCC:CCTCCC p.(Glu807GlyfsTer3) NC_000023.11:38286563:CCTCCCTCCTCTTTTTCCTCCC:CCTCCC p.(Glu807GlyfsTer3) NC_000023.11:38286563:CCTCCCTCCTCTTTTT: Analogous +NM_001378290.1:c.593_594del NP_001365219.1:p.Ser198fs NC_000003.12:149960906:TCT:T p.(Ser198CysfsTer25) NC_000003.12:149960906:TCT:T p.(Ser198CysfsTer25) NC_000003.12:149960907:CT: Analogous +NM_001271223.3:c.5122C>T NP_001258152.2:p.Arg1708Cys NC_000001.11:228259760:C:T p.(Arg1708Cys) NC_000001.11:228259760:C:T p.(Arg1708Cys) NC_000001.11:228259760:C:T Identity +NM_001171162.1:c.1718G>A NP_001164633.1:p.Ser573Asn NC_000023.11:71248704:C:T p.(Ser573Asn) NC_000023.11:71248704:C:T p.(Ser573Asn) NC_000023.11:71248704:C:T Identity +NM_001034853.2:c.2474_2475insT NP_001030025.1:p.Glu825fs NC_000023.11:38286524::A p.(Glu825AspfsTer10) NC_000023.11:38286523:C:A p.(Glu825AspfsTer10) NC_000023.11:38286524:CT:A Analogous +NM_001039960.3:c.1460G>T NP_001035049.1:p.Cys487Phe NC_000012.12:51469723:G:T p.(Cys487Phe) NC_000012.12:51469723:G:T p.(Cys487Phe) NC_000012.12:51469723:G:T Identity +NM_001363711.2:c.2794G>A NP_001350640.1:p.Asp932Asn NC_000015.10:45101849:C:T p.(Asp932Asn) NC_000015.10:45101849:C:T p.(Asp932Asn) NC_000015.10:45101849:C:T Identity +NM_002185.5:c.616C>T NP_002176.2:p.Arg206Ter NC_000005.10:35873557:C:T p.(Arg206Ter) NC_000005.10:35873557:C:T p.(Arg206Ter) NC_000005.10:35873557:C:T Identity +NM_015884.4:c.1499G>A NP_056968.1:p.Gly500Asp NC_000023.11:21882593:G:A p.(Gly500Asp) NC_000023.11:21882593:G:A p.(Gly500Asp) NC_000023.11:21882593:G:A Identity +NM_145261.4:c.62dup NP_660304.1:p.Tyr21Ter NC_000003.12:180988089:T:TT p.(Tyr21Ter) NC_000003.12:180988089:T:TT p.(Tyr21Ter) ERR:SPDI Identity +NM_000388.4:c.2506G>T NP_000379.3:p.Val836Leu NC_000003.12:122284459:G:T p.(Val836Leu) NC_000003.12:122284459:G:T p.(Val836Leu) NC_000003.12:122284459:G:T Identity +NM_001194937.2:c.3324dup NP_001181866.1:p.Pro1109fs NC_000001.11:151405683:T:TT p.(Pro1109ThrfsTer9) NC_000001.11:151405683:T:TT p.(Pro1109ThrfsTer9) ERR:SPDI Analogous +NM_001301738.2:c.457T>A NP_001288667.1:p.Phe153Ile NC_000005.10:139480852:A:T p.(Phe153Ile) NC_000005.10:139480852:A:T p.(Phe153Ile) NC_000005.10:139480852:A:T Identity +NM_000062.3:c.1051del NP_000053.2:p.His351fs NC_000011.10:57611735:CCC:CC p.(His351ThrfsTer3) NC_000011.10:57611735:CCC:CC p.(His351ThrfsTer3) NC_000011.10:57611737:C: Analogous +NM_001172477.1:c.224C>T NP_001165948.1:p.Pro75Leu NC_000008.11:102238598:G:A p.(Pro75Leu) NC_000008.11:102238598:G:A p.(Pro75Leu) NC_000008.11:102238598:G:A Identity +NM_001202464.3:c.947G>A NP_001189393.1:p.Arg316Gln NC_000010.11:246923:G:A p.(Arg316Gln) NC_000010.11:246923:G:A p.(Arg316Gln) NC_000010.11:246923:G:A Identity +NM_000921.5:c.2551A>G NP_000912.3:p.Thr851Ala NC_000012.12:20646935:A:G p.(Thr851Ala) NC_000012.12:20646935:A:G p.(Thr851Ala) NC_000012.12:20646935:A:G Identity +NM_001846.4:c.522_525del NP_001837.2:p.Pro175fs NC_000013.11:110429926:CTGCCT:CT p.(Pro175LysfsTer70) NC_000013.11:110429926:CTGCCT:CT p.(Pro175LysfsTer70) NC_000013.11:110429928:GCCT: Analogous +NM_001040616.3:c.1525CTT[1] NP_001035706.2:p.Leu510del NC_000015.10:100569981:AAGAAGAA:AAGAA p.(Leu510del) NC_000015.10:100569986:G:AAG ERR:Parse ERR:Parse Identity +NM_004990.4:c.581G>A NP_004981.2:p.Gly194Asp NC_000012.12:57490296:G:A p.(Gly194Asp) NC_000012.12:57490296:G:A p.(Gly194Asp) NC_000012.12:57490296:G:A Identity +NM_021076.4:c.1013C>T NP_066554.2:p.Thr338Ile NC_000022.11:29483503:C:T p.(Thr338Ile) NC_000022.11:29483503:C:T p.(Thr338Ile) NC_000022.11:29483503:C:T Identity +NM_000942.5:c.243_244delinsC NP_000933.1:p.Gly82fs NC_000015.10:64162045:CT:G p.(Gly82GlufsTer15) NC_000015.10:64162045:CT:G p.(Gly82GlufsTer15) NC_000015.10:64162045:CT:G Analogous +NM_003482.4:c.14473C>T NP_003473.3:p.Arg4825Trp NC_000012.12:49028050:G:A p.(Arg4825Trp) NC_000012.12:49028050:G:A p.(Arg4825Trp) NC_000012.12:49028050:G:A Identity +NM_004278.4:c.154G>A NP_004269.1:p.Asp52Asn NC_000017.11:16217379:G:A p.(Asp52Asn) NC_000017.11:16217379:G:A p.(Asp52Asn) NC_000017.11:16217379:G:A Identity +NM_001142273.2:c.3380C>T NP_001135745.1:p.Thr1127Ile NC_000002.12:121377583:G:A p.(Thr1127Ile) NC_000002.12:121377583:G:A p.(Thr1127Ile) NC_000002.12:121377583:G:A Identity +NM_000276.4:c.850G>A NP_000267.2:p.Glu284Lys NC_000023.11:129561203:G:A p.(Glu284Lys) NC_000023.11:129561203:G:A p.(Glu284Lys) NC_000023.11:129561203:G:A Identity +NM_001112808.3:c.2611G>C NP_001106279.3:p.Glu871Gln NC_000001.11:74492222:G:C p.(Glu871Gln) NC_000001.11:74492222:G:C p.(Glu871Gln) NC_000001.11:74492222:G:C Identity +NM_057175.5:c.1772del NP_476516.1:p.Glu591fs NC_000004.12:139370228:A: p.(Glu591GlyfsTer2) NC_000004.12:139370228:A: p.(Glu591GlyfsTer2) NC_000004.12:139370228:A: Analogous +NM_000381.4:c.1924A>C NP_000372.1:p.Thr642Pro NC_000023.11:10449447:T:G p.(Thr642Pro) NC_000023.11:10449447:T:G p.(Thr642Pro) NC_000023.11:10449447:T:G Identity +NM_001286414.3:c.1265G>A NP_001273343.1:p.Gly422Glu NC_000015.10:43397306:G:A p.(Gly422Glu) NC_000015.10:43397306:G:A p.(Gly422Glu) NC_000015.10:43397306:G:A Identity +NM_001110556.2:c.2993C>G NP_001104026.1:p.Ala998Gly NC_000023.11:154361521:G:C p.(Ala998Gly) NC_000023.11:154361521:G:C p.(Ala998Gly) NC_000023.11:154361521:G:C Identity +NM_001253852.3:c.616C>T NP_001240781.1:p.Arg206Ter NC_000001.11:113901236:G:A p.(Arg206Ter) NC_000001.11:113901236:G:A p.(Arg206Ter) NC_000001.11:113901236:G:A Identity +NM_001394062.1:c.15226C>G NP_001380991.1:p.Leu5076Val NC_000001.11:39388067:C:G p.(Leu5076Val) NC_000001.11:39388067:C:G p.(Leu5076Val) NC_000001.11:39388067:C:G Identity +NM_016239.4:c.6611G>A NP_057323.3:p.Arg2204His NC_000017.11:18148129:G:A p.(Arg2204His) NC_000017.11:18148129:G:A p.(Arg2204His) NC_000017.11:18148129:G:A Identity +NM_000312.4:c.1267G>A NP_000303.1:p.Gly423Ser NC_000002.12:127428826:G:A p.(Gly423Ser) NC_000002.12:127428826:G:A p.(Gly423Ser) NC_000002.12:127428826:G:A Identity +NM_022915.5:c.746A>G NP_075066.1:p.Asn249Ser NC_000002.12:223963852:A:G p.(Asn249Ser) NC_000002.12:223963852:A:G p.(Asn249Ser) NC_000002.12:223963852:A:G Identity +NM_001005373.4:c.944G>T NP_001005373.1:p.Arg315Leu NC_000009.12:127479878:G:T p.(Arg315Leu) NC_000009.12:127479878:G:T p.(Arg315Leu) NC_000009.12:127479878:G:T Identity +NM_001317122.2:c.2389A>T NP_001304051.1:p.Ile797Phe NC_000001.11:35919177:A:T p.(Ile797Phe) NC_000001.11:35919177:A:T p.? NC_000001.11:35919177:A:T Identity +NM_024753.5:c.3368G>C NP_079029.3:p.Arg1123Pro NC_000002.12:165888369:C:G p.(Arg1123Pro) NC_000002.12:165888369:C:G p.(Arg1123Pro) NC_000002.12:165888369:C:G Identity +NM_000395.3:c.274G>A NP_000386.1:p.Val92Met NC_000022.11:36926059:G:A p.(Val92Met) NC_000022.11:36926059:G:A p.(Val92Met) NC_000022.11:36926059:G:A Identity +NM_001321120.2:c.1468G>A NP_001308049.1:p.Ala490Thr NC_000017.11:61483342:G:A p.(Ala490Thr) NC_000017.11:61483342:G:A p.(Ala490Thr) NC_000017.11:61483342:G:A Identity +NM_005720.4:c.713C>T NP_005711.1:p.Ala238Val NC_000007.14:99391182:C:T p.(Ala238Val) NC_000007.14:99391182:C:T p.(Ala238Val) NC_000007.14:99391182:C:T Identity +NM_000362.5:c.410A>G NP_000353.1:p.Tyr137Cys NC_000022.11:32858109:A:G p.(Tyr137Cys) NC_000022.11:32858109:A:G p.(Tyr137Cys) NC_000022.11:32858109:A:G Identity +NM_001256468.2:c.425C>T NP_001243397.1:p.Thr142Ile NC_000010.11:74843281:C:T p.(Thr142Ile) NC_000010.11:74843281:C:T p.(Thr142Ile) NC_000010.11:74843281:C:T Identity +NM_017617.5:c.3160C>A NP_060087.3:p.Pro1054Thr NC_000009.12:136508880:G:T p.(Pro1054Thr) NC_000009.12:136508880:G:T p.(Pro1054Thr) NC_000009.12:136508880:G:T Identity +NM_000388.4:c.1933G>A NP_000379.3:p.Ala645Thr NC_000003.12:122283886:G:A p.(Ala645Thr) NC_000003.12:122283886:G:A p.(Ala645Thr) NC_000003.12:122283886:G:A Identity +NM_005120.3:c.2791C>T NP_005111.2:p.Arg931Trp NC_000023.11:71127073:C:T p.(Arg931Trp) NC_000023.11:71127073:C:T p.(Arg931Trp) NC_000023.11:71127073:C:T Identity +NM_001349370.3:c.1753_1755del NP_001336299.1:p.Lys585del NC_000003.12:47122748:CTT: p.(Lys585del) NC_000003.12:47122748:CTT: p.(Lys585del) NC_000003.12:47122748:CTT: Identity +NM_001109878.2:c.148A>T NP_001103348.1:p.Ser50Cys NC_000023.11:80022416:A:T p.(Ser50Cys) NC_000023.11:80022416:A:T p.(Ser50Cys) NC_000023.11:80022416:A:T Identity +NM_001256850.1:c.33679C>T NP_001243779.1:p.Pro11227Ser NC_000002.12:178672688:G:A p.(Pro11227Ser) NC_000002.12:178672688:G:A p.(Pro11227Ser) NC_000002.12:178672688:G:A Identity +NM_018240.7:c.115G>A NP_060710.3:p.Val39Met NC_000001.11:158076174:G:A p.(Val39Met) NC_000001.11:158076174:G:A p.(Val39Met) NC_000001.11:158076174:G:A Identity +NM_016239.4:c.4817A>G NP_057323.3:p.Asn1606Ser NC_000017.11:18137620:A:G p.(Asn1606Ser) NC_000017.11:18137620:A:G p.(Asn1606Ser) NC_000017.11:18137620:A:G Identity +NM_017934.7:c.329G>A NP_060404.4:p.Arg110His NC_000006.12:79060678:C:T p.(Arg110His) NC_000006.12:79060678:C:T p.(Arg110His) NC_000006.12:79060678:C:T Identity +NM_001447.3:c.1521T>G NP_001438.1:p.Ile507Met NC_000005.10:151567410:A:C p.(Ile507Met) NC_000005.10:151567410:A:C p.(Ile507Met) NC_000005.10:151567410:A:C Identity +NM_033195.3:c.475G>C NP_149972.1:p.Val159Leu NC_000015.10:59207414:G:C p.(Val159Leu) NC_000015.10:59207414:G:C p.(Val159Leu) NC_000015.10:59207414:G:C Identity +NM_016239.4:c.5929_5930inv NP_057323.3:p.Cys1977His NC_000017.11:18143583:TG:CA p.(Cys1977His) NC_000017.11:18143583:TG:CA p.(Cys1977His) ERR:SPDI Identity +NM_003482.4:c.13402C>T NP_003473.3:p.Arg4468Trp NC_000012.12:49031302:G:A p.(Arg4468Trp) NC_000012.12:49031302:G:A p.(Arg4468Trp) NC_000012.12:49031302:G:A Identity +NM_000168.6:c.1786C>T NP_000159.3:p.His596Tyr NC_000007.14:41977583:G:A p.(His596Tyr) NC_000007.14:41977583:G:A p.(His596Tyr) NC_000007.14:41977583:G:A Identity +NM_001204.7:c.1361C>T NP_001195.2:p.Ser454Phe NC_000002.12:202542394:C:T p.(Ser454Phe) NC_000002.12:202542394:C:T p.(Ser454Phe) NC_000002.12:202542394:C:T Identity +NM_001110556.2:c.7013C>T NP_001104026.1:p.Ser2338Phe NC_000023.11:154351590:G:A p.(Ser2338Phe) NC_000023.11:154351590:G:A p.(Ser2338Phe) NC_000023.11:154351590:G:A Identity +NM_003047.5:c.296T>G NP_003038.2:p.Val99Gly NC_000001.11:27154038:A:C p.(Val99Gly) NC_000001.11:27154038:A:C p.(Val99Gly) NC_000001.11:27154038:A:C Identity +NM_001080512.3:c.2455C>T NP_001073981.1:p.Arg819Ter NC_000010.11:58813907:C:T p.(Arg819Ter) NC_000010.11:58813907:C:T p.(Arg819Ter) NC_000010.11:58813907:C:T Identity +NM_001330073.1:c.149T>C NP_001317002.1:p.Ile50Thr NC_000017.11:7585776:T:C p.(Ile50Thr) NC_000017.11:7585776:T:C p.(Ile50Thr) NC_000017.11:7585776:T:C Identity +NM_001304815.2:c.7214G>T NP_001291744.1:p.Arg2405Leu NC_000019.10:42294850:G:T p.(Arg2405Leu) NC_000019.10:42294850:G:T p.(Arg2405Leu) NC_000019.10:42294850:G:T Identity +NM_000540.3:c.14104T>C NP_000531.2:p.Trp4702Arg NC_000019.10:38573281:T:C p.(Trp4702Arg) NC_000019.10:38573281:T:C p.(Trp4702Arg) NC_000019.10:38573281:T:C Identity +NM_001005271.3:c.989G>T NP_001005271.2:p.Arg330Leu NC_000017.11:7893822:G:T p.(Arg330Leu) NC_000017.11:7893822:G:T p.(Arg330Leu) NC_000017.11:7893822:G:T Identity +NM_001367624.2:c.7340G>C NP_001354553.1:p.Arg2447Thr NC_000016.10:88434809:G:C p.(Arg2447Thr) NC_000016.10:88434809:G:C p.(Arg2447Thr) NC_000016.10:88434809:G:C Identity +NM_001163809.2:c.2267G>A NP_001157281.1:p.Arg756Gln NC_000017.11:1727225:G:A p.(Arg756Gln) NC_000017.11:1727225:G:A p.(Arg756Gln) NC_000017.11:1727225:G:A Identity +NM_002292.4:c.4667C>T NP_002283.3:p.Ala1556Val NC_000003.12:49122276:G:A p.(Ala1556Val) NC_000003.12:49122276:G:A p.(Ala1556Val) NC_000003.12:49122276:G:A Identity +NM_001572.5:c.709G>T NP_001563.2:p.Gly237Trp NC_000011.10:614007:C:A p.(Gly237Trp) NC_000011.10:614007:C:A p.(Gly237Trp) NC_000011.10:614007:C:A Identity +NM_033071.5:c.13178A>G NP_149062.2:p.Gln4393Arg NC_000006.12:152331293:T:C p.(Gln4393Arg) NC_000006.12:152331293:T:C p.(Gln4393Arg) NC_000006.12:152331293:T:C Identity +NM_001365023.1:c.886G>A NP_001351952.1:p.Glu296Lys NC_000009.12:74662566:G:A p.(Glu296Lys) NC_000009.12:74662566:G:A p.(Glu296Lys) NC_000009.12:74662566:G:A Identity +NM_001999.4:c.8321A>T NP_001990.2:p.Asp2774Val NC_000005.10:128261778:T:A p.(Asp2774Val) NC_000005.10:128261778:T:A p.(Asp2774Val) NC_000005.10:128261778:T:A Identity +NM_001256850.1:c.92831C>G NP_001243779.1:p.Pro30944Arg NC_000002.12:178541322:G:C p.(Pro30944Arg) NC_000002.12:178541322:G:C p.(Pro30944Arg) NC_000002.12:178541322:G:C Identity +NM_000445.5:c.7156GAG[1] NP_000436.2:p.Glu2387del NC_000008.11:143922848:CTCCTCC:CTCC p.(Glu2387del) NC_000008.11:143922853:C:CTC ERR:Parse ERR:Parse Identity +NM_000169.3:c.170A>G NP_000160.1:p.Gln57Arg NC_000023.11:101407733:T:C p.(Gln57Arg) NC_000023.11:101407733:T:C p.(Gln57Arg) NC_000023.11:101407733:T:C Identity +NM_001365276.2:c.1232G>A NP_001352205.1:p.Arg411Lys NC_000006.12:32096620:C:T p.(Arg411Lys) NC_000006.12:32096620:C:T p.(Arg411Lys) NC_000006.12:32096620:C:T Identity +NM_004959.5:c.205C>T NP_004950.2:p.Arg69Cys NC_000009.12:124503117:G:A p.(Arg69Cys) NC_000009.12:124503117:G:A p.(Arg69Cys) NC_000009.12:124503117:G:A Identity +NM_000110.4:c.86G>A NP_000101.2:p.Cys29Tyr NC_000001.11:97883327:C:T p.(Cys29Tyr) NC_000001.11:97883327:C:T p.(Cys29Tyr) NC_000001.11:97883327:C:T Identity +NM_001378761.1:c.6524T>G NP_001365690.1:p.Val2175Gly NC_000011.10:121166775:T:G p.(Val2175Gly) NC_000011.10:121166775:T:G p.(Val2175Gly) NC_000011.10:121166775:T:G Identity +NM_001291285.3:c.7601C>T NP_001278214.1:p.Ser2534Leu NC_000004.12:125448610:C:T p.(Ser2534Leu) NC_000004.12:125448610:C:T p.(Ser2534Leu) NC_000004.12:125448610:C:T Identity +NM_001272073.2:c.386A>G NP_001259002.1:p.Glu129Gly NC_000003.12:49103662:T:C p.(Glu129Gly) NC_000003.12:49103662:T:C p.(Glu129Gly) NC_000003.12:49103662:T:C Identity +LRG_443t2:c.160C>T LRG_443p2:p.Pro54Ser NC_000012.12:98516026:C:T ERR:Data provider error: ValueError: Transcript LRG_443t2 not found ERR:Data provider error: ValueError: Transcript LRG_443t2 not found ERR:AlignmentMapper(tx_ac=LRG_443t2, alt_ac=LRG_443t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_443t2, alt_ac=LRG_443t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_443t2 not found +LRG_1055t1:c.1025A>G LRG_1055p1:p.Asp342Gly NC_000015.10:98896827:A:G ERR:Data provider error: ValueError: Transcript LRG_1055t1 not found ERR:Data provider error: ValueError: Transcript LRG_1055t1 not found ERR:AlignmentMapper(tx_ac=LRG_1055t1, alt_ac=LRG_1055t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1055t1, alt_ac=LRG_1055t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1055t1 not found +NM_006445.4:c.3150G>C NP_006436.3:p.Leu1050Phe NC_000017.11:1674590:C:G p.(Leu1050Phe) NC_000017.11:1674590:C:G p.(Leu1050Phe) NC_000017.11:1674590:C:G Identity +NM_000414.4:c.961A>G NP_000405.1:p.Thr321Ala NC_000005.10:119496634:A:G p.(Thr321Ala) NC_000005.10:119496634:A:G p.(Thr321Ala) NC_000005.10:119496634:A:G Identity +NM_001282145.2:c.1075C>T NP_001269074.1:p.Gln359Ter NC_000023.11:5903602:G:A p.(Gln359Ter) NC_000023.11:5903602:G:A p.(Gln359Ter) NC_000023.11:5903602:G:A Identity +NM_001272003.2:c.2348G>A NP_001258932.1:p.Arg783His NC_000009.12:135777470:G:A p.(Arg783His) NC_000009.12:135777470:G:A p.(Arg783His) NC_000009.12:135777470:G:A Identity +NM_001160708.2:c.1123C>T NP_001154180.1:p.Arg375Cys NC_000012.12:106430305:C:T p.(Arg375Cys) NC_000012.12:106430305:C:T p.(Arg375Cys) NC_000012.12:106430305:C:T Identity +NM_000127.3:c.2233C>T NP_000118.2:p.Arg745Ter NC_000008.11:117799719:G:A p.(Arg745Ter) NC_000008.11:117799719:G:A p.(Arg745Ter) NC_000008.11:117799719:G:A Identity +NM_001329938.2:c.878A>C NP_001316867.1:p.Gln293Pro NC_000014.9:75963363:T:G p.(Gln293Pro) NC_000014.9:75963363:T:G p.(Gln293Pro) NC_000014.9:75963363:T:G Identity +NM_001365212.1:c.829G>A NP_001352141.1:p.Glu277Lys NC_000001.11:173838247:G:A p.(Glu277Lys) NC_000001.11:173838247:G:A p.(Glu277Lys) NC_000001.11:173838247:G:A Identity +NM_003482.4:c.14740C>A NP_003473.3:p.Pro4914Thr NC_000012.12:49027225:G:T p.(Pro4914Thr) NC_000012.12:49027225:G:T p.(Pro4914Thr) NC_000012.12:49027225:G:T Identity +NM_001042594.2:c.988A>C NP_001036059.1:p.Ser330Arg NC_000007.14:124835402:T:G p.(Ser330Arg) NC_000007.14:124835402:T:G p.(Ser330Arg) NC_000007.14:124835402:T:G Identity +NM_001256850.1:c.8950G>T NP_001243779.1:p.Asp2984Tyr NC_000002.12:178768885:C:A p.(Asp2984Tyr) NC_000002.12:178768885:C:A p.(Asp2984Tyr) NC_000002.12:178768885:C:A Identity +NM_001291285.3:c.4471C>T NP_001278214.1:p.Leu1491Phe NC_000004.12:125320881:C:T p.(Leu1491Phe) NC_000004.12:125320881:C:T p.(Leu1491Phe) NC_000004.12:125320881:C:T Identity +NM_020699.4:c.653G>A NP_065750.1:p.Gly218Glu NC_000001.11:153818115:C:T p.(Gly218Glu) NC_000001.11:153818115:C:T p.(Gly218Glu) NC_000001.11:153818115:C:T Identity +NM_001081676.2:c.217G>A NP_001075145.1:p.Val73Met NC_000002.12:165176177:C:T p.(Val73Met) NC_000002.12:165176177:C:T p.(Val73Met) NC_000002.12:165176177:C:T Identity +NM_001008537.3:c.1112T>A NP_001008537.1:p.Ile371Asn NC_000023.11:74743444:A:T p.(Ile371Asn) NC_000023.11:74743444:A:T p.(Ile371Asn) NC_000023.11:74743444:A:T Identity +NM_001144763.2:c.2314del NP_001138235.1:p.His772fs NC_000011.10:108512964:GG:G p.(His772ThrfsTer6) NC_000011.10:108512964:GG:G p.(His772ThrfsTer6) NC_000011.10:108512964:G: Analogous +NM_000261.2:c.365G>T NP_000252.1:p.Gly122Val NC_000001.11:171652246:C:A p.(Gly122Val) NC_000001.11:171652246:C:A p.(Gly122Val) NC_000001.11:171652246:C:A Identity +NM_004369.4:c.8798C>T NP_004360.2:p.Pro2933Leu NC_000002.12:237336301:G:A p.(Pro2933Leu) NC_000002.12:237336301:G:A p.(Pro2933Leu) NC_000002.12:237336301:G:A Identity +NM_001377273.1:c.3061G>A NP_001364202.1:p.Glu1021Lys NC_000012.12:21845637:C:T p.(Glu1021Lys) NC_000012.12:21845637:C:T p.(Glu1021Lys) NC_000012.12:21845637:C:T Identity +NM_001166496.2:c.983G>A NP_001159968.1:p.Arg328Gln NC_000001.11:112917422:C:T p.(Arg328Gln) NC_000001.11:112917422:C:T p.(Arg328Gln) NC_000001.11:112917422:C:T Identity +NM_005687.5:c.448A>C NP_005678.3:p.Ile150Leu NC_000002.12:222639586:T:G p.(Ile150Leu) NC_000002.12:222639586:T:G p.(Ile150Leu) NC_000002.12:222639586:T:G Identity +NM_001243254.2:c.407C>G NP_001230183.1:p.Thr136Arg NC_000011.10:9204201:G:C p.(Thr136Arg) NC_000011.10:9204201:G:C p.(Thr136Arg) NC_000011.10:9204201:G:C Identity +NM_001143973.2:c.41T>C NP_001137445.1:p.Leu14Pro NC_000010.11:95693858:A:G p.(Leu14Pro) NC_000010.11:95693858:A:G p.(Leu14Pro) NC_000010.11:95693858:A:G Identity +NM_001015877.2:c.732G>C NP_001015877.1:p.Leu244Phe NC_000023.11:134415017:G:C p.(Leu244Phe) NC_000023.11:134415017:G:C p.(Leu244Phe) NC_000023.11:134415017:G:C Identity +NM_001163771.2:c.79G>C NP_001157243.1:p.Ala27Pro NC_000006.12:33192161:C:G p.(Ala27Pro) NC_000006.12:33192161:C:G p.(Ala27Pro) NC_000006.12:33192161:C:G Identity +LRG_611t1:c.307A>C LRG_611p1:p.Lys103Gln NC_000015.10:90088657:T:G ERR:Data provider error: ValueError: Transcript LRG_611t1 not found ERR:Data provider error: ValueError: Transcript LRG_611t1 not found ERR:AlignmentMapper(tx_ac=LRG_611t1, alt_ac=LRG_611t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_611t1, alt_ac=LRG_611t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_611t1 not found +NM_003632.3:c.910G>A NP_003623.1:p.Gly304Arg NC_000017.11:42686911:G:A p.(Gly304Arg) NC_000017.11:42686911:G:A p.(Gly304Arg) NC_000017.11:42686911:G:A Identity +NM_001039590.3:c.6709C>T NP_001034679.2:p.Arg2237Cys NC_000023.11:41223359:C:T p.(Arg2237Cys) NC_000023.11:41223359:C:T p.(Arg2237Cys) NC_000023.11:41223359:C:T Identity +NM_000836.4:c.250G>C NP_000827.2:p.Val84Leu NC_000019.10:48398641:G:C p.(Val84Leu) NC_000019.10:48398641:G:C p.(Val84Leu) NC_000019.10:48398641:G:C Identity +NM_000017.4:c.650T>C NP_000008.1:p.Met217Thr NC_000012.12:120738304:T:C p.(Met217Thr) NC_000012.12:120738304:T:C p.(Met217Thr) NC_000012.12:120738304:T:C Identity +NM_001277269.2:c.3248A>C NP_001264198.1:p.His1083Pro NC_000011.10:17593679:A:C p.(His1083Pro) NC_000011.10:17593679:A:C p.(His1083Pro) NC_000011.10:17593679:A:C Identity +NM_000132.4:c.641T>A NP_000123.1:p.Phe214Tyr NC_000023.11:154987265:A:T p.(Phe214Tyr) NC_000023.11:154987265:A:T p.(Phe214Tyr) NC_000023.11:154987265:A:T Identity +NM_001130105.1:c.898T>C NP_001123577.1:p.Cys300Arg NC_000005.10:75425441:A:G p.(Cys300Arg) NC_000005.10:75425441:A:G p.(Cys300Arg) NC_000005.10:75425441:A:G Identity +NM_001379180.1:c.1268C>T NP_001366109.1:p.Thr423Met NC_000014.9:76498360:C:T p.(Thr423Met) NC_000014.9:76498360:C:T p.(Thr423Met) NC_000014.9:76498360:C:T Identity +NM_001377273.1:c.3757C>G NP_001364202.1:p.Leu1253Val NC_000012.12:21818163:G:C p.(Leu1253Val) NC_000012.12:21818163:G:C p.(Leu1253Val) NC_000012.12:21818163:G:C Identity +NM_001110556.2:c.278A>G NP_001104026.1:p.His93Arg NC_000023.11:154370967:T:C p.(His93Arg) NC_000023.11:154370967:T:C p.(His93Arg) NC_000023.11:154370967:T:C Identity +NM_001257144.2:c.2413T>G NP_001244073.1:p.Ser805Ala NC_000012.12:31102975:T:G p.(Ser805Ala) NC_000012.12:31102975:T:G p.(Ser805Ala) NC_000012.12:31102975:T:G Identity +NM_001110556.2:c.3502C>T NP_001104026.1:p.Pro1168Ser NC_000023.11:154360292:G:A p.(Pro1168Ser) NC_000023.11:154360292:G:A p.(Pro1168Ser) NC_000023.11:154360292:G:A Identity +NM_198578.4:c.1817G>A NP_940980.4:p.Gly606Asp NC_000012.12:40274868:G:A p.(Gly606Asp) NC_000012.12:40274868:G:A p.(Gly606Asp) NC_000012.12:40274868:G:A Identity +NM_000260.4:c.2101C>T NP_000251.3:p.Leu701Phe NC_000011.10:77175377:C:T p.(Leu701Phe) NC_000011.10:77175377:C:T p.(Leu701Phe) NC_000011.10:77175377:C:T Identity +NM_015570.4:c.1036C>T NP_056385.1:p.Pro346Ser NC_000007.14:70763162:C:T p.(Pro346Ser) NC_000007.14:70763162:C:T p.(Pro346Ser) NC_000007.14:70763162:C:T Identity +NM_000721.4:c.3229G>A NP_000712.2:p.Val1077Met NC_000001.11:181733716:G:A p.(Val1077Met) NC_000001.11:181733716:G:A p.(Val1077Met) NC_000001.11:181733716:G:A Identity +NM_000426.4:c.1235A>G NP_000417.3:p.Gln412Arg NC_000006.12:129165603:A:G p.(Gln412Arg) NC_000006.12:129165603:A:G p.(Gln412Arg) NC_000006.12:129165603:A:G Identity +NM_001128225.3:c.254C>T NP_001121697.2:p.Pro85Leu NC_000011.10:47410347:C:T p.(Pro85Leu) NC_000011.10:47410347:C:T p.(Pro85Leu) NC_000011.10:47410347:C:T Identity +NM_014423.4:c.3307T>A NP_055238.1:p.Phe1103Ile NC_000005.10:132883396:A:T p.(Phe1103Ile) NC_000005.10:132883396:A:T p.(Phe1103Ile) NC_000005.10:132883396:A:T Identity +NM_001305878.2:c.2366A>G NP_001292807.1:p.Glu789Gly NC_000008.11:41942862:T:C p.(Glu789Gly) NC_000008.11:41942862:T:C p.(Glu789Gly) NC_000008.11:41942862:T:C Identity +NM_001376.5:c.2675C>T NP_001367.2:p.Ser892Phe NC_000014.9:101987588:C:T p.(Ser892Phe) NC_000014.9:101987588:C:T p.(Ser892Phe) NC_000014.9:101987588:C:T Identity +NM_080605.4:c.839A>C NP_542172.2:p.Lys280Thr NC_000001.11:1233116:A:C p.(Lys280Thr) NC_000001.11:1233116:A:C p.(Lys280Thr) NC_000001.11:1233116:A:C Identity +NM_001853.4:c.125A>T NP_001844.3:p.Lys42Met NC_000020.11:62817612:A:T p.(Lys42Met) NC_000020.11:62817612:A:T p.(Lys42Met) NC_000020.11:62817612:A:T Identity +NM_001059.3:c.445A>G NP_001050.1:p.Ser149Gly NC_000004.12:103719230:T:C p.(Ser149Gly) NC_000004.12:103719230:T:C p.(Ser149Gly) NC_000004.12:103719230:T:C Identity +NM_003632.3:c.2405G>A NP_003623.1:p.Arg802His NC_000017.11:42691865:G:A p.(Arg802His) NC_000017.11:42691865:G:A p.(Arg802His) NC_000017.11:42691865:G:A Identity +NM_000068.4:c.4993C>T NP_000059.3:p.Leu1665Phe NC_000019.10:13235705:G:A p.(Leu1665Phe) NC_000019.10:13235705:G:A p.(Leu1665Phe) NC_000019.10:13235705:G:A Identity +NM_001079872.2:c.175G>A NP_001073341.1:p.Asp59Asn NC_000023.11:120560463:C:T p.(Asp59Asn) NC_000023.11:120560463:C:T p.(Asp59Asn) NC_000023.11:120560463:C:T Identity +NM_001143979.2:c.101A>G NP_001137451.1:p.Glu34Gly NC_000016.10:15667302:A:G p.(Glu34Gly) NC_000016.10:15667302:A:G p.(Glu34Gly) NC_000016.10:15667302:A:G Identity +NM_001182.5:c.1274A>C NP_001173.2:p.His425Pro NC_000005.10:126552063:T:G p.(His425Pro) NC_000005.10:126552063:T:G p.(His425Pro) NC_000005.10:126552063:T:G Identity +NM_001145795.2:c.478C>T NP_001139267.1:p.Arg160Cys NC_000016.10:28866571:C:T p.(Arg160Cys) NC_000016.10:28866571:C:T p.(Arg160Cys) NC_000016.10:28866571:C:T Identity +NM_000117.3:c.619C>T NP_000108.1:p.Arg207Trp NC_000023.11:154381050:C:T p.(Arg207Trp) NC_000023.11:154381050:C:T p.(Arg207Trp) NC_000023.11:154381050:C:T Identity +NM_000890.5:c.1151C>T NP_000881.3:p.Pro384Leu NC_000011.10:128916621:C:T p.(Pro384Leu) NC_000011.10:128916621:C:T p.(Pro384Leu) NC_000011.10:128916621:C:T Identity +NM_001126054.3:c.2659A>G NP_001119526.1:p.Thr887Ala NC_000023.11:41520457:T:C p.(Thr887Ala) NC_000023.11:41520457:T:C p.(Thr887Ala) NC_000023.11:41520457:T:C Identity +NM_001365536.1:c.3632T>C NP_001352465.1:p.Phe1211Ser NC_000002.12:166238262:A:G p.(Phe1211Ser) NC_000002.12:166238262:A:G p.(Phe1211Ser) NC_000002.12:166238262:A:G Identity +NM_001305275.2:c.940G>C NP_001292204.1:p.Asp314His NC_000001.11:1041384:G:C p.(Asp314His) NC_000001.11:1041384:G:C p.(Asp314His) NC_000001.11:1041384:G:C Identity +NM_000435.3:c.6130T>C NP_000426.2:p.Cys2044Arg NC_000019.10:15161497:A:G p.(Cys2044Arg) NC_000019.10:15161497:A:G p.(Cys2044Arg) NC_000019.10:15161497:A:G Identity +NM_000068.4:c.6341G>A NP_000059.3:p.Arg2114His NC_000019.10:13210632:C:T p.(Arg2114His) NC_000019.10:13210632:C:T p.(Arg2114His) NC_000019.10:13210632:C:T Identity +NM_001329090.2:c.1858A>C NP_001316019.1:p.Asn620His NC_000001.11:16133212:T:G p.(Asn620His) NC_000001.11:16133212:T:G p.(Asn620His) NC_000001.11:16133212:T:G Identity +NM_001145795.2:c.121_130dup NP_001139267.1:p.Arg44fs NC_000016.10:28866213:CTTTGCCCGCC:CTTTGCCCGCCTTTGCCCGCC p.(Arg44LeufsTer30) NC_000016.10:28866213:CTTTGCCCGCC:CTTTGCCCGCCTTTGCCCGCC p.(Arg44LeufsTer30) ERR:SPDI Analogous +NM_017780.4:c.4561A>G NP_060250.2:p.Thr1521Ala NC_000008.11:60841670:A:G p.(Thr1521Ala) NC_000008.11:60841670:A:G p.(Thr1521Ala) NC_000008.11:60841670:A:G Identity +NM_001277742.2:c.1280C>T NP_001264671.1:p.Pro427Leu NC_000002.12:72132260:G:A p.(Pro427Leu) NC_000002.12:72132260:G:A p.(Pro427Leu) NC_000002.12:72132260:G:A Identity +NM_001281463.1:c.2162A>G NP_001268392.1:p.Asn721Ser NC_000023.11:53403861:T:C p.(Asn721Ser) NC_000023.11:53403861:T:C p.(Asn721Ser) NC_000023.11:53403861:T:C Identity +NM_001330437.2:c.502A>T NP_001317366.1:p.Thr168Ser NC_000012.12:112453363:A:T p.(Thr168Ser) NC_000012.12:112453363:A:T p.(Thr168Ser) NC_000012.12:112453363:A:T Identity +NM_014014.5:c.3134_3135del NP_054733.2:p.Pro1045fs NC_000002.12:96289075:AG: p.(Pro1045HisfsTer8) NC_000002.12:96289075:AG: p.(Pro1045HisfsTer8) NC_000002.12:96289075:AG: Analogous +NM_001304815.2:c.6826C>T NP_001291744.1:p.Pro2276Ser NC_000019.10:42293992:C:T p.(Pro2276Ser) NC_000019.10:42293992:C:T p.(Pro2276Ser) NC_000019.10:42293992:C:T Identity +NM_007347.5:c.2555T>G NP_031373.2:p.Leu852Arg NC_000015.10:50997533:T:G p.(Leu852Arg) NC_000015.10:50997533:T:G p.(Leu852Arg) NC_000015.10:50997533:T:G Identity +NM_001256850.1:c.95484T>G NP_001243779.1:p.Cys31828Trp NC_000002.12:178536339:A:C p.(Cys31828Trp) NC_000002.12:178536339:A:C p.(Cys31828Trp) NC_000002.12:178536339:A:C Identity +NM_000335.5:c.5399T>C NP_000326.2:p.Phe1800Ser NC_000003.12:38550969:A:G p.(Phe1800Ser) NC_000003.12:38550969:A:G p.(Phe1800Ser) NC_000003.12:38550969:A:G Identity +NM_001267040.1:c.2350dup NP_001253969.1:p.Glu784fs NC_000006.12:15511313:GG:GGG p.(Glu784GlyfsTer72) NC_000006.12:15511313:GG:GGG p.(Glu784GlyfsTer72) ERR:SPDI Analogous +NM_001282164.2:c.539G>A NP_001269093.1:p.Arg180His NC_000012.12:132620454:G:A p.(Arg180His) NC_000012.12:132620454:G:A p.(Arg180His) NC_000012.12:132620454:G:A Identity +NM_001349370.3:c.2008T>C NP_001336299.1:p.Cys670Arg NC_000003.12:47122495:A:G p.(Cys670Arg) NC_000003.12:47122495:A:G p.(Cys670Arg) NC_000003.12:47122495:A:G Identity +NM_206933.4:c.12092A>G NP_996816.3:p.Tyr4031Cys NC_000001.11:215680350:T:C p.(Tyr4031Cys) NC_000001.11:215680350:T:C p.(Tyr4031Cys) NC_000001.11:215680350:T:C Identity +NM_001080453.3:c.4970G>A NP_001073922.2:p.Arg1657His NC_000007.14:1476886:C:T p.(Arg1657His) NC_000007.14:1476886:C:T p.(Arg1657His) NC_000007.14:1476886:C:T Identity +NM_024753.5:c.2941C>T NP_079029.3:p.Arg981Cys NC_000002.12:165898694:G:A p.(Arg981Cys) NC_000002.12:165898694:G:A p.(Arg981Cys) NC_000002.12:165898694:G:A Identity +NM_001127897.4:c.2218G>A NP_001121369.1:p.Asp740Asn NC_000016.10:53649049:C:T p.(Asp740Asn) NC_000016.10:53649049:C:T p.(Asp740Asn) NC_000016.10:53649049:C:T Identity +NM_003036.4:c.170C>T NP_003027.1:p.Ala57Val NC_000001.11:2228935:C:T p.(Ala57Val) NC_000001.11:2228935:C:T p.(Ala57Val) NC_000001.11:2228935:C:T Identity +NM_000832.7:c.1271T>C NP_000823.4:p.Phe424Ser NC_000009.12:137161128:T:C p.(Phe424Ser) NC_000009.12:137161128:T:C p.(Phe424Ser) NC_000009.12:137161128:T:C Identity +NM_001378451.1:c.589C>T NP_001365380.1:p.Arg197Trp NC_000003.12:186584441:C:T p.(Arg197Trp) NC_000003.12:186584441:C:T p.(Arg197Trp) NC_000003.12:186584441:C:T Identity +NM_001303052.2:c.2396A>C NP_001289981.1:p.Gln799Pro NC_000002.12:1889364:T:G p.(Gln799Pro) NC_000002.12:1889364:T:G p.(Gln799Pro) NC_000002.12:1889364:T:G Identity +NM_016120.4:c.1000C>T NP_057204.2:p.Arg334Trp NC_000023.11:74592314:G:A p.(Arg334Trp) NC_000023.11:74592314:G:A p.(Arg334Trp) NC_000023.11:74592314:G:A Identity +NM_001407726.1:c.2399T>A NP_001394655.1:p.Met800Lys NC_000017.11:43092990:A:T p.(Met800Lys) NC_000017.11:43092990:A:T p.(Met800Lys) NC_000017.11:43092990:A:T Identity +NM_001363711.2:c.1015A>G NP_001350640.1:p.Met339Val NC_000015.10:45110452:T:C p.(Met339Val) NC_000015.10:45110452:T:C p.(Met339Val) NC_000015.10:45110452:T:C Identity +NM_001270507.2:c.625G>T NP_001257436.1:p.Val209Phe NC_000006.12:137875825:G:T p.(Val209Phe) NC_000006.12:137875825:G:T p.(Val209Phe) NC_000006.12:137875825:G:T Identity +NM_001042496.2:c.70C>G NP_001035961.1:p.Pro24Ala NC_000015.10:34336583:G:C p.(Pro24Ala) NC_000015.10:34336583:G:C p.(Pro24Ala) NC_000015.10:34336583:G:C Identity +NM_001365276.2:c.2986C>G NP_001352205.1:p.Arg996Gly NC_000006.12:32085911:G:C p.(Arg996Gly) NC_000006.12:32085911:G:C p.(Arg996Gly) NC_000006.12:32085911:G:C Identity +NM_000834.5:c.1277G>A NP_000825.2:p.Ser426Asn NC_000012.12:13616505:C:T p.(Ser426Asn) NC_000012.12:13616505:C:T p.(Ser426Asn) NC_000012.12:13616505:C:T Identity +NM_001079821.3:c.2756G>A NP_001073289.2:p.Gly919Asp NC_000001.11:247444063:G:A p.(Gly919Asp) NC_000001.11:247444063:G:A p.(Gly919Asp) NC_000001.11:247444063:G:A Identity +NM_001165963.4:c.2178A>T NP_001159435.1:p.Glu726Asp NC_000002.12:166041467:T:A p.(Glu726Asp) NC_000002.12:166041467:T:A p.(Glu726Asp) NC_000002.12:166041467:T:A Identity +NM_001184896.1:c.2024C>T NP_001171825.1:p.Pro675Leu NC_000023.11:53987156:G:A p.(Pro675Leu) NC_000023.11:53987156:G:A p.(Pro675Leu) NC_000023.11:53987156:G:A Identity +NM_001127487.2:c.7216G>C NP_001120959.1:p.Val2406Leu NC_000007.14:128856580:G:C p.(Val2406Leu) NC_000007.14:128856580:G:C p.(Val2406Leu) NC_000007.14:128856580:G:C Identity +NM_000218.3:c.1875dup NP_000209.2:p.Gly626fs NC_000011.10:2847842:CCCCC:CCCCCC p.(Gly626ArgfsTer26) NC_000011.10:2847842:CCCCC:CCCCCC p.(Gly626ArgfsTer26) ERR:SPDI Analogous +NM_001198557.2:c.769G>A NP_001185486.1:p.Gly257Arg NC_000005.10:126822792:G:A p.(Gly257Arg) NC_000005.10:126822792:G:A p.(Gly257Arg) NC_000005.10:126822792:G:A Identity +NM_000414.4:c.280G>T NP_000405.1:p.Asp94Tyr NC_000005.10:119474459:G:T p.(Asp94Tyr) NC_000005.10:119474459:G:T p.(Asp94Tyr) NC_000005.10:119474459:G:T Identity +NM_001256850.1:c.33384del NP_001243779.1:p.Lys11130fs NC_000002.12:178675951:AA:A p.(Lys11130ArgfsTer35) NC_000002.12:178675951:AA:A p.(Lys11130ArgfsTer35) NC_000002.12:178675951:A: Analogous +NM_003098.3:c.1300_1301del NP_003089.1:p.Trp434fs NC_000020.11:33408824:CACA:CA p.(Trp434GlyfsTer3) NC_000020.11:33408824:CACA:CA p.(Trp434GlyfsTer3) NC_000020.11:33408824:CA: Analogous +NM_001378761.1:c.6774T>A NP_001365690.1:p.His2258Gln NC_000011.10:121168757:T:A p.(His2258Gln) NC_000011.10:121168757:T:A p.(His2258Gln) NC_000011.10:121168757:T:A Identity +NM_001077186.2:c.2200C>T NP_001070654.1:p.Arg734Cys NC_000019.10:50259209:C:T p.(Arg734Cys) NC_000019.10:50259209:C:T p.(Arg734Cys) NC_000019.10:50259209:C:T Identity +NM_005027.4:c.175G>A NP_005018.2:p.Gly59Ser NC_000019.10:18156053:G:A p.(Gly59Ser) NC_000019.10:18156053:G:A p.(Gly59Ser) NC_000019.10:18156053:G:A Identity +NM_001368395.3:c.2470C>T NP_001355324.1:p.Pro824Ser NC_000023.11:12716817:C:T p.(Pro824Ser) NC_000023.11:12716817:C:T p.(Pro824Ser) NC_000023.11:12716817:C:T Identity +NM_005482.3:c.737T>A NP_005473.1:p.Met246Lys NC_000001.11:77161370:A:T p.(Met246Lys) NC_000001.11:77161370:A:T p.(Met246Lys) NC_000001.11:77161370:A:T Identity +NM_001111125.3:c.3242C>T NP_001104595.1:p.Ala1081Val NC_000023.11:53238179:G:A p.(Ala1081Val) NC_000023.11:53238179:G:A p.(Ala1081Val) NC_000023.11:53238179:G:A Identity +NM_001173479.2:c.1320G>T NP_001166950.1:p.Glu440Asp NC_000023.11:63638099:C:A p.(Glu440Asp) NC_000023.11:63638099:C:A p.(Glu440Asp) NC_000023.11:63638099:C:A Identity +NM_001365999.1:c.1007T>G NP_001352928.1:p.Leu336Arg NC_000001.11:43419860:T:G p.(Leu336Arg) NC_000001.11:43419860:T:G p.(Leu336Arg) NC_000001.11:43419860:T:G Identity +NM_000256.3:c.124T>C NP_000247.2:p.Trp42Arg NC_000011.10:47351406:A:G p.(Trp42Arg) NC_000011.10:47351406:A:G p.(Trp42Arg) NC_000011.10:47351406:A:G Identity +NM_001130081.3:c.1416del NP_001123553.1:p.Gln472fs NC_000003.12:171688798:TT:T p.(Gln472HisfsTer29) NC_000003.12:171688798:TT:T p.(Gln472HisfsTer29) NC_000003.12:171688798:T: Analogous +NM_017780.4:c.5995G>C NP_060250.2:p.Ala1999Pro NC_000008.11:60852597:G:C p.(Ala1999Pro) NC_000008.11:60852597:G:C p.(Ala1999Pro) NC_000008.11:60852597:G:C Identity +NM_172201.2:c.141del NP_751951.1:p.Tyr48fs NC_000021.9:34370618:C: p.(Tyr48MetfsTer8) NC_000021.9:34370618:C: p.(Tyr48MetfsTer8) NC_000021.9:34370618:C: Analogous +NM_001194937.2:c.1583G>A NP_001181866.1:p.Arg528His NC_000001.11:151423464:C:T p.(Arg528His) NC_000001.11:151423464:C:T p.(Arg528His) NC_000001.11:151423464:C:T Identity +NM_001379043.1:c.233A>G NP_001365972.1:p.Asp78Gly NC_000001.11:226065759:A:G p.(Asp78Gly) NC_000001.11:226065759:A:G p.(Asp78Gly) NC_000001.11:226065759:A:G Identity +NM_005982.4:c.531_532del NP_005973.1:p.Asp179fs NC_000014.9:60648657:TTT:T p.(Asp179ProfsTer15) NC_000014.9:60648657:TTT:T p.(Asp179ProfsTer15) NC_000014.9:60648657:TT: Analogous +NM_006231.4:c.41G>T NP_006222.2:p.Gly14Val NC_000012.12:132687274:C:A p.(Gly14Val) NC_000012.12:132687274:C:A p.(Gly14Val) NC_000012.12:132687274:C:A Identity +NM_003276.2:c.577G>A NP_003267.1:p.Glu193Lys NC_000012.12:98532833:G:A p.(Glu193Lys) NC_000012.12:98532833:G:A p.(Glu193Lys) NC_000012.12:98532833:G:A Identity +NM_020778.5:c.1079C>T NP_065829.4:p.Pro360Leu NC_000015.10:84840357:C:T p.(Pro360Leu) NC_000015.10:84840357:C:T p.(Pro360Leu) NC_000015.10:84840357:C:T Identity +NM_000064.4:c.2527G>A NP_000055.2:p.Glu843Lys NC_000019.10:6697707:C:T p.(Glu843Lys) NC_000019.10:6697707:C:T p.(Glu843Lys) NC_000019.10:6697707:C:T Identity +NM_003718.5:c.1721A>G NP_003709.3:p.Lys574Arg NC_000007.14:39988107:A:G p.(Lys574Arg) NC_000007.14:39988107:A:G p.(Lys574Arg) NC_000007.14:39988107:A:G Identity +NM_000142.5:c.585C>G NP_000133.1:p.Phe195Leu NC_000004.12:1801505:C:G p.(Phe195Leu) NC_000004.12:1801505:C:G p.(Phe195Leu) NC_000004.12:1801505:C:G Identity +NM_001127892.2:c.725C>T NP_001121364.1:p.Pro242Leu NC_000016.10:51141205:G:A p.(Pro242Leu) NC_000016.10:51141205:G:A p.(Pro242Leu) NC_000016.10:51141205:G:A Identity +NM_001042517.2:c.1561A>G NP_001035982.1:p.Thr521Ala NC_000013.11:59974440:T:C p.(Thr521Ala) NC_000013.11:59974440:T:C p.(Thr521Ala) NC_000013.11:59974440:T:C Identity +NM_001256850.1:c.43346A>G NP_001243779.1:p.Tyr14449Cys NC_000002.12:178616521:T:C p.(Tyr14449Cys) NC_000002.12:178616521:T:C p.(Tyr14449Cys) NC_000002.12:178616521:T:C Identity +NM_001080413.3:c.265G>T NP_001073882.3:p.Val89Leu NC_000007.14:144401895:C:A p.(Val89Leu) NC_000007.14:144401895:C:A p.(Val89Leu) NC_000007.14:144401895:C:A Identity +NM_020433.5:c.338G>T NP_065166.2:p.Gly113Val NC_000020.11:44186367:C:A p.(Gly113Val) NC_000020.11:44186367:C:A p.(Gly113Val) NC_000020.11:44186367:C:A Identity +NM_001330358.2:c.1030G>A NP_001317287.1:p.Val344Met NC_000001.11:11795221:C:T p.(Val344Met) NC_000001.11:11795221:C:T p.(Val344Met) NC_000001.11:11795221:C:T Identity +NM_001304840.3:c.936T>A NP_001291769.1:p.Phe312Leu NC_000002.12:196318885:A:T p.(Phe312Leu) NC_000002.12:196318885:A:T p.(Phe312Leu) NC_000002.12:196318885:A:T Identity +NM_144772.3:c.776G>A NP_658985.2:p.Gly259Glu NC_000001.11:156593992:G:A p.(Gly259Glu) NC_000001.11:156593992:G:A p.(Gly259Glu) NC_000001.11:156593992:G:A Identity +NM_001353949.2:c.3467C>T NP_001340878.1:p.Pro1156Leu NC_000002.12:166015656:G:A p.(Pro1156Leu) NC_000002.12:166015656:G:A p.(Pro1156Leu) NC_000002.12:166015656:G:A Identity +NM_001041.4:c.1438C>A NP_001032.2:p.Pro480Thr NC_000003.12:165055267:G:T p.(Pro480Thr) NC_000003.12:165055267:G:T p.(Pro480Thr) NC_000003.12:165055267:G:T Identity +NM_001376.5:c.3955G>C NP_001367.2:p.Val1319Leu NC_000014.9:102000138:G:C p.(Val1319Leu) NC_000014.9:102000138:G:C p.(Val1319Leu) NC_000014.9:102000138:G:C Identity +NM_001077186.2:c.4279G>A NP_001070654.1:p.Glu1427Lys NC_000019.10:50281680:G:A p.(Glu1427Lys) NC_000019.10:50281680:G:A p.(Glu1427Lys) NC_000019.10:50281680:G:A Identity +NM_001130823.3:c.1613C>T NP_001124295.1:p.Ser538Leu NC_000019.10:10154935:G:A p.(Ser538Leu) NC_000019.10:10154935:G:A p.(Ser538Leu) NC_000019.10:10154935:G:A Identity +LRG_587t1:c.25G>T LRG_587p1:p.Val9Leu NC_000012.12:6123171:C:A ERR:Data provider error: ValueError: Transcript LRG_587t1 not found ERR:Data provider error: ValueError: Transcript LRG_587t1 not found ERR:AlignmentMapper(tx_ac=LRG_587t1, alt_ac=LRG_587t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_587t1, alt_ac=LRG_587t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_587t1 not found +NM_000435.3:c.4163C>T NP_000426.2:p.Pro1388Leu NC_000019.10:15177764:G:A p.(Pro1388Leu) NC_000019.10:15177764:G:A p.(Pro1388Leu) NC_000019.10:15177764:G:A Identity +NM_001289396.2:c.344A>T NP_001276325.1:p.Gln115Leu NC_000009.12:2033069:A:T p.(Gln115Leu) NC_000009.12:2033069:A:T p.(Gln115Leu) NC_000009.12:2033069:A:T Identity +NM_007129.5:c.1127A>G NP_009060.2:p.Asn376Ser NC_000013.11:99984996:A:G p.(Asn376Ser) NC_000013.11:99984996:A:G p.(Asn376Ser) NC_000013.11:99984996:A:G Identity +NM_153252.5:c.5078G>T NP_694984.5:p.Gly1693Val NC_000023.11:80676939:C:A p.(Gly1693Val) NC_000023.11:80676939:C:A p.(Gly1693Val) NC_000023.11:80676939:C:A Identity +NM_001029882.3:c.1646G>A NP_001025053.1:p.Arg549His NC_000001.11:27550469:C:T p.(Arg549His) NC_000001.11:27550469:C:T p.(Arg549His) NC_000001.11:27550469:C:T Identity +NM_001194937.2:c.229C>T NP_001181866.1:p.Gln77Ter NC_000001.11:151440981:G:A p.(Gln77Ter) NC_000001.11:151440981:G:A p.(Gln77Ter) NC_000001.11:151440981:G:A Identity +NM_001079812.3:c.631T>C NP_001073280.1:p.Cys211Arg NC_000005.10:141582337:A:G p.(Cys211Arg) NC_000005.10:141582337:A:G p.(Cys211Arg) NC_000005.10:141582337:A:G Identity +NM_001031689.3:c.2281C>G NP_001026859.1:p.Gln761Glu NC_000009.12:26905617:G:C p.(Gln761Glu) NC_000009.12:26905617:G:C p.(Gln761Glu) NC_000009.12:26905617:G:C Identity +NM_001378761.1:c.2541C>A NP_001365690.1:p.Asn847Lys NC_000011.10:121125681:C:A p.(Asn847Lys) NC_000011.10:121125681:C:A p.(Asn847Lys) NC_000011.10:121125681:C:A Identity +NM_001291285.3:c.14698G>A NP_001278214.1:p.Glu4900Lys NC_000004.12:125491516:G:A p.(Glu4900Lys) NC_000004.12:125491516:G:A p.(Glu4900Lys) NC_000004.12:125491516:G:A Identity +NM_001081676.2:c.5687T>C NP_001075145.1:p.Ile1896Thr NC_000002.12:165090318:A:G p.(Ile1896Thr) NC_000002.12:165090318:A:G p.(Ile1896Thr) NC_000002.12:165090318:A:G Identity +NM_001204466.2:c.1678A>G NP_001191395.1:p.Lys560Glu NC_000023.11:47182284:A:G p.(Lys560Glu) NC_000023.11:47182284:A:G p.(Lys560Glu) NC_000023.11:47182284:A:G Identity +NM_001170629.2:c.3628C>T NP_001164100.1:p.Arg1210Trp NC_000014.9:21403102:G:A p.(Arg1210Trp) NC_000014.9:21403102:G:A p.(Arg1210Trp) NC_000014.9:21403102:G:A Identity +NM_001039476.3:c.415T>C NP_001034565.1:p.Tyr139His NC_000016.10:93297:A:G p.(Tyr139His) NC_000016.10:93297:A:G p.(Tyr139His) NC_000016.10:93297:A:G Identity +NM_001357321.2:c.593G>T NP_001344250.1:p.Arg198Met NC_000002.12:43852384:G:T p.(Arg198Met) NC_000002.12:43852384:G:T p.(Arg198Met) NC_000002.12:43852384:G:T Identity +NM_016343.4:c.3352C>G NP_057427.3:p.Gln1118Glu NC_000001.11:214641689:C:G p.(Gln1118Glu) NC_000001.11:214641689:C:G p.(Gln1118Glu) NC_000001.11:214641689:C:G Identity +NM_001197181.2:c.170G>A NP_001184110.1:p.Cys57Tyr NC_000016.10:89934836:G:A p.(Cys57Tyr) NC_000016.10:89934836:G:A p.(Cys57Tyr) NC_000016.10:89934836:G:A Identity +NM_001080453.3:c.4064T>C NP_001073922.2:p.Met1355Thr NC_000007.14:1480326:A:G p.(Met1355Thr) NC_000007.14:1480326:A:G p.(Met1355Thr) NC_000007.14:1480326:A:G Identity +NM_001141945.3:c.229A>G NP_001135417.1:p.Ile77Val NC_000010.11:88947286:T:C p.(Ile77Val) NC_000010.11:88947286:T:C p.(Ile77Val) NC_000010.11:88947286:T:C Identity +NM_001363656.2:c.104C>G NP_001350585.1:p.Ser35Cys NC_000019.10:52212822:C:G p.(Ser35Cys) NC_000019.10:52212822:C:G p.(Ser35Cys) NC_000019.10:52212822:C:G Identity +NM_000036.3:c.440G>A NP_000027.3:p.Arg147His NC_000001.11:114684305:C:T p.(Arg147His) NC_000001.11:114684305:C:T p.(Arg147His) NC_000001.11:114684305:C:T Identity +NM_001003652.4:c.757A>G NP_001003652.1:p.Thr253Ala NC_000018.10:47851300:T:C p.(Thr253Ala) NC_000018.10:47851300:T:C p.(Thr253Ala) NC_000018.10:47851300:T:C Identity +LRG_1042t1:c.235A>G LRG_1042p1:p.Lys79Glu NC_000008.11:139702757:T:C ERR:Data provider error: ValueError: Transcript LRG_1042t1 not found ERR:Data provider error: ValueError: Transcript LRG_1042t1 not found ERR:AlignmentMapper(tx_ac=LRG_1042t1, alt_ac=LRG_1042t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1042t1, alt_ac=LRG_1042t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1042t1 not found +NM_001385197.1:c.15C>G NP_001372126.1:p.His5Gln NC_000019.10:10378391:G:C p.(His5Gln) NC_000019.10:10378391:G:C p.(His5Gln) NC_000019.10:10378391:G:C Identity +NM_001044385.3:c.410C>G NP_001037850.1:p.Ala137Gly NC_000002.12:201632193:G:C p.(Ala137Gly) NC_000002.12:201632193:G:C p.(Ala137Gly) NC_000002.12:201632193:G:C Identity +NM_000440.3:c.2407A>C NP_000431.2:p.Thr803Pro NC_000005.10:149863217:T:G p.(Thr803Pro) NC_000005.10:149863217:T:G p.(Thr803Pro) NC_000005.10:149863217:T:G Identity +NM_001256850.1:c.98186C>A NP_001243779.1:p.Ala32729Glu NC_000002.12:178533505:G:T p.(Ala32729Glu) NC_000002.12:178533505:G:T p.(Ala32729Glu) NC_000002.12:178533505:G:T Identity +NM_001164507.2:c.12080A>G NP_001157979.2:p.Glu4027Gly NC_000002.12:151610058:T:C p.(Glu4027Gly) NC_000002.12:151610058:T:C p.(Glu4027Gly) NC_000002.12:151610058:T:C Identity +NM_003036.4:c.1870G>C NP_003027.1:p.Glu624Gln NC_000001.11:2306121:G:C p.(Glu624Gln) NC_000001.11:2306121:G:C p.(Glu624Gln) NC_000001.11:2306121:G:C Identity +NM_001347839.2:c.3370C>G NP_001334768.1:p.Gln1124Glu NC_000012.12:45851492:C:G p.(Gln1124Glu) NC_000012.12:45851492:C:G p.(Gln1124Glu) NC_000012.12:45851492:C:G Identity +NM_153252.5:c.684G>T NP_694984.5:p.Met228Ile NC_000023.11:80744160:C:A p.(Met228Ile) NC_000023.11:80744160:C:A p.(Met228Ile) NC_000023.11:80744160:C:A Identity +NM_001111125.3:c.1377A>C NP_001104595.1:p.Glu459Asp NC_000023.11:53254553:T:G p.(Glu459Asp) NC_000023.11:53254553:T:G p.(Glu459Asp) NC_000023.11:53254553:T:G Identity +NM_016327.3:c.807del NP_057411.1:p.Ile270fs NC_000022.11:24520399:CCC:CC p.(Ile270SerfsTer69) NC_000022.11:24520399:CCC:CC p.(Ile270SerfsTer69) NC_000022.11:24520401:C: Analogous +NM_001170629.2:c.5222C>T NP_001164100.1:p.Pro1741Leu NC_000014.9:21395079:G:A p.(Pro1741Leu) NC_000014.9:21395079:G:A p.(Pro1741Leu) NC_000014.9:21395079:G:A Identity +NM_001018056.3:c.1948C>G NP_001018066.1:p.Leu650Val NC_000009.12:2648332:C:G p.(Leu650Val) NC_000009.12:2648332:C:G p.(Leu650Val) NC_000009.12:2648332:C:G Identity +NM_000254.3:c.959T>G NP_000245.2:p.Val320Gly NC_000001.11:236826859:T:G p.(Val320Gly) NC_000001.11:236826859:T:G p.(Val320Gly) NC_000001.11:236826859:T:G Identity +NM_005245.4:c.11363C>T NP_005236.2:p.Pro3788Leu NC_000004.12:186603021:G:A p.(Pro3788Leu) NC_000004.12:186603021:G:A p.(Pro3788Leu) NC_000004.12:186603021:G:A Identity +NM_003188.4:c.1276G>A NP_003179.1:p.Val426Met NC_000006.12:90523782:C:T p.(Val426Met) NC_000006.12:90523782:C:T p.(Val426Met) NC_000006.12:90523782:C:T Identity +NM_080680.3:c.897G>T NP_542411.2:p.Glu299Asp NC_000006.12:33185033:C:A p.(Glu299Asp) NC_000006.12:33185033:C:A p.(Glu299Asp) NC_000006.12:33185033:C:A Identity +NM_017934.7:c.1168C>T NP_060404.4:p.Arg390Cys NC_000006.12:79016610:G:A p.(Arg390Cys) NC_000006.12:79016610:G:A p.(Arg390Cys) NC_000006.12:79016610:G:A Identity +NM_001012339.3:c.848C>T NP_001012339.2:p.Ser283Leu NC_000005.10:34938961:C:T p.(Ser283Leu) NC_000005.10:34938961:C:T p.(Ser283Leu) NC_000005.10:34938961:C:T Identity +NM_001256324.2:c.1346G>A NP_001243253.1:p.Arg449His NC_000017.11:50575747:G:A p.(Arg449His) NC_000017.11:50575747:G:A p.(Arg449His) NC_000017.11:50575747:G:A Identity +NM_001348768.2:c.1042T>A NP_001335697.1:p.Leu348Ile NC_000002.12:196319847:A:T p.(Leu348Ile) NC_000002.12:196319847:A:T p.(Leu348Ile) NC_000002.12:196319847:A:T Identity +NM_020988.3:c.1015G>A NP_066268.1:p.Val339Ile NC_000016.10:56355002:G:A p.(Val339Ile) NC_000016.10:56355002:G:A p.(Val339Ile) NC_000016.10:56355002:G:A Identity +NM_001270507.2:c.464C>G NP_001257436.1:p.Thr155Arg NC_000006.12:137875012:C:G p.(Thr155Arg) NC_000006.12:137875012:C:G p.(Thr155Arg) NC_000006.12:137875012:C:G Identity +NM_001042663.3:c.166G>C NP_001036128.2:p.Ala56Pro NC_000001.11:6476024:C:G p.(Ala56Pro) NC_000001.11:6476024:C:G p.(Ala56Pro) NC_000001.11:6476024:C:G Identity +LRG_1404t1:c.2616_2619del LRG_1404p1:p.Lys872fs NC_000007.14:105106537:AAAAAAA:AAA ERR:Data provider error: ValueError: Transcript LRG_1404t1 not found ERR:Data provider error: ValueError: Transcript LRG_1404t1 not found ERR:AlignmentMapper(tx_ac=LRG_1404t1, alt_ac=LRG_1404t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1404t1, alt_ac=LRG_1404t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1404t1 not found +NM_001368263.1:c.1514C>T NP_001355192.1:p.Ser505Phe NC_000003.12:45491790:C:T p.(Ser505Phe) NC_000003.12:45491790:C:T p.(Ser505Phe) NC_000003.12:45491790:C:T Identity +NM_005654.6:c.1096C>A NP_005645.1:p.Arg366Ser NC_000005.10:93593665:C:A p.(Arg366Ser) NC_000005.10:93593665:C:A p.(Arg366Ser) NC_000005.10:93593665:C:A Identity +NM_014008.5:c.761A>C NP_054727.1:p.Glu254Ala NC_000023.11:49246776:A:C p.(Glu254Ala) NC_000023.11:49246776:A:C p.(Glu254Ala) NC_000023.11:49246776:A:C Identity +NM_001324255.2:c.1759G>A NP_001311184.1:p.Val587Ile NC_000005.10:72195491:G:A p.(Val587Ile) NC_000005.10:72195491:G:A p.(Val587Ile) NC_000005.10:72195491:G:A Identity +NM_001287491.2:c.3878dup NP_001274420.1:p.Asn1293fs NC_000002.12:74100664:AA:AAA p.(Asn1293LysfsTer24) NC_000002.12:74100664:AA:AAA p.(Asn1293LysfsTer24) ERR:SPDI Analogous +NM_001367624.2:c.3117G>T NP_001354553.1:p.Arg1039Ser NC_000016.10:88430586:G:T p.(Arg1039Ser) NC_000016.10:88430586:G:T p.(Arg1039Ser) NC_000016.10:88430586:G:T Identity +NM_001999.4:c.5147C>G NP_001990.2:p.Thr1716Ser NC_000005.10:128310035:G:C p.(Thr1716Ser) NC_000005.10:128310035:G:C p.(Thr1716Ser) NC_000005.10:128310035:G:C Identity +NM_001346505.2:c.3055C>T NP_001333434.1:p.Leu1019Phe NC_000006.12:148544659:C:T p.(Leu1019Phe) NC_000006.12:148544659:C:T p.(Leu1019Phe) NC_000006.12:148544659:C:T Identity +NM_001126131.2:c.3259G>C NP_001119603.1:p.Ala1087Pro NC_000015.10:89318944:C:G p.(Ala1087Pro) NC_000015.10:89318944:C:G p.(Ala1087Pro) NC_000015.10:89318944:C:G Identity +NM_001130066.2:c.1639T>C NP_001123538.1:p.Cys547Arg NC_000006.12:33438881:T:C p.(Cys547Arg) NC_000006.12:33438881:T:C p.(Cys547Arg) NC_000006.12:33438881:T:C Identity +NM_001171653.2:c.2878T>C NP_001165124.1:p.Ser960Pro NC_000002.12:144396528:A:G p.(Ser960Pro) NC_000002.12:144396528:A:G p.(Ser960Pro) NC_000002.12:144396528:A:G Identity +NM_001194937.2:c.1111T>C NP_001181866.1:p.Cys371Arg NC_000001.11:151425001:A:G p.(Cys371Arg) NC_000001.11:151425001:A:G p.(Cys371Arg) NC_000001.11:151425001:A:G Identity +NM_001080517.3:c.3884C>T NP_001073986.1:p.Ser1295Phe NC_000003.12:9475645:C:T p.(Ser1295Phe) NC_000003.12:9475645:C:T p.(Ser1295Phe) NC_000003.12:9475645:C:T Identity +NM_001377273.1:c.931G>C NP_001364202.1:p.Gly311Arg NC_000012.12:21912951:C:G p.(Gly311Arg) NC_000012.12:21912951:C:G p.(Gly311Arg) NC_000012.12:21912951:C:G Identity +NM_018161.5:c.271del NP_060631.2:p.Met91fs NC_000011.10:71463437:AA:A p.(Met91CysfsTer11) NC_000011.10:71463437:AA:A p.(Met91CysfsTer11) NC_000011.10:71463438:A: Analogous +NM_016239.4:c.6106G>A NP_057323.3:p.Glu2036Lys NC_000017.11:18143928:G:A p.(Glu2036Lys) NC_000017.11:18143928:G:A p.(Glu2036Lys) NC_000017.11:18143928:G:A Identity +NM_207421.4:c.1765C>A NP_997304.3:p.Gln589Lys NC_000001.11:17398760:C:A p.(Gln589Lys) NC_000001.11:17398760:C:A p.(Gln589Lys) NC_000001.11:17398760:C:A Identity +NM_001293640.2:c.3415_3416del NP_001280569.1:p.Lys1139fs NC_000012.12:105164697:AA: p.(Lys1139AspfsTer4) NC_000012.12:105164697:AA: p.(Lys1139AspfsTer4) NC_000012.12:105164697:AA: Analogous +NM_031407.7:c.7331A>T NP_113584.3:p.Asp2444Val NC_000023.11:53562117:T:A p.(Asp2444Val) NC_000023.11:53562117:T:A p.(Asp2444Val) NC_000023.11:53562117:T:A Identity +NM_001372066.1:c.14_15delinsTC NP_001358995.1:p.Trp5Phe NC_000006.12:10414976:CC:GA p.(Trp5Phe) NC_000006.12:10414976:CC:GA p.(Trp5Phe) NC_000006.12:10414976:CC:GA Identity +NM_001376.5:c.4991T>C NP_001367.2:p.Ile1664Thr NC_000014.9:102004624:T:C p.(Ile1664Thr) NC_000014.9:102004624:T:C p.(Ile1664Thr) NC_000014.9:102004624:T:C Identity +NM_014804.3:c.614G>A NP_055619.2:p.Gly205Asp NC_000017.11:6628220:C:T p.(Gly205Asp) NC_000017.11:6628220:C:T p.(Gly205Asp) NC_000017.11:6628220:C:T Identity +NM_001365819.1:c.3976G>A NP_001352748.1:p.Ala1326Thr NC_000022.11:50456526:C:T p.(Ala1326Thr) NC_000022.11:50456526:C:T p.(Ala1326Thr) NC_000022.11:50456526:C:T Identity +NM_001365276.2:c.3679C>A NP_001352205.1:p.Leu1227Met NC_000006.12:32082092:G:T p.(Leu1227Met) NC_000006.12:32082092:G:T p.(Leu1227Met) NC_000006.12:32082092:G:T Identity +NM_001079.4:c.1825G>A NP_001070.2:p.Gly609Ser NC_000002.12:97739462:G:A p.(Gly609Ser) NC_000002.12:97739462:G:A p.(Gly609Ser) NC_000002.12:97739462:G:A Identity +NM_001368073.2:c.2636C>G NP_001355002.1:p.Ser879Ter NC_000015.10:56094800:G:C p.(Ser879Ter) NC_000015.10:56094800:G:C p.(Ser879Ter) NC_000015.10:56094800:G:C Identity +NM_001365276.2:c.8861T>C NP_001352205.1:p.Leu2954Pro NC_000006.12:32052923:A:G p.(Leu2954Pro) NC_000006.12:32052923:A:G p.(Leu2954Pro) NC_000006.12:32052923:A:G Identity +NM_001042544.1:c.3154G>A NP_001036009.1:p.Glu1052Lys NC_000019.10:40617107:G:A p.(Glu1052Lys) NC_000019.10:40617107:G:A p.(Glu1052Lys) NC_000019.10:40617107:G:A Identity +NM_005245.4:c.3848C>T NP_005236.2:p.Pro1283Leu NC_000004.12:186636708:G:A p.(Pro1283Leu) NC_000004.12:186636708:G:A p.(Pro1283Leu) NC_000004.12:186636708:G:A Identity +NM_004447.6:c.578A>T NP_004438.3:p.Lys193Met NC_000012.12:15666460:T:A p.(Lys193Met) NC_000012.12:15666460:T:A p.(Lys193Met) NC_000012.12:15666460:T:A Identity +NM_001315529.2:c.1252G>A NP_001302458.1:p.Glu418Lys NC_000021.9:46353252:G:A p.(Glu418Lys) NC_000021.9:46353252:G:A p.(Glu418Lys) NC_000021.9:46353252:G:A Identity +NM_001170629.2:c.661A>T NP_001164100.1:p.Asn221Tyr NC_000014.9:21430982:T:A p.(Asn221Tyr) NC_000014.9:21430982:T:A p.(Asn221Tyr) NC_000014.9:21430982:T:A Identity +NM_001363864.1:c.237A>C NP_001350793.1:p.Lys79Asn NC_000002.12:60546118:T:G p.(Lys79Asn) NC_000002.12:60546118:T:G p.(Lys79Asn) NC_000002.12:60546118:T:G Identity +NM_001110556.2:c.6570C>G NP_001104026.1:p.Ile2190Met NC_000023.11:154352379:G:C p.(Ile2190Met) NC_000023.11:154352379:G:C p.(Ile2190Met) NC_000023.11:154352379:G:C Identity +NM_003742.4:c.896_897delinsTT NP_003733.2:p.Arg299Ile NC_000002.12:168990811:TC:AA p.(Arg299Ile) NC_000002.12:168990811:TC:AA p.(Arg299Ile) NC_000002.12:168990811:TC:AA Identity +NM_000435.3:c.6443T>G NP_000426.2:p.Leu2148Arg NC_000019.10:15161184:A:C p.(Leu2148Arg) NC_000019.10:15161184:A:C p.(Leu2148Arg) NC_000019.10:15161184:A:C Identity +NM_001190709.2:c.4982A>C NP_001177638.1:p.Lys1661Thr NC_000001.11:102879857:T:G p.(Lys1661Thr) NC_000001.11:102879857:T:G p.(Lys1661Thr) NC_000001.11:102879857:T:G Identity +LRG_1025t2:c.5213C>T LRG_1025p2:p.Pro1738Leu NC_000022.11:42210092:G:A ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found +NM_001194937.2:c.2779G>C NP_001181866.1:p.Gly927Arg NC_000001.11:151406228:C:G p.(Gly927Arg) NC_000001.11:151406228:C:G p.(Gly927Arg) NC_000001.11:151406228:C:G Identity +NM_001042603.3:c.953A>G NP_001036068.1:p.Tyr318Cys NC_000012.12:354151:T:C p.(Tyr318Cys) NC_000012.12:354151:T:C p.(Tyr318Cys) NC_000012.12:354151:T:C Identity +NM_001177310.2:c.2827T>C NP_001170781.1:p.Phe943Leu NC_000009.12:74785950:A:G p.(Phe943Leu) NC_000009.12:74785950:A:G p.(Phe943Leu) NC_000009.12:74785950:A:G Identity +NM_001257293.2:c.931C>A NP_001244222.1:p.Pro311Thr NC_000005.10:179617639:G:T p.(Pro311Thr) NC_000005.10:179617639:G:T p.(Pro311Thr) NC_000005.10:179617639:G:T Identity +LRG_226t1:c.824C>T LRG_226p1:p.Ala275Val NC_000022.11:19765096:C:T ERR:Data provider error: ValueError: Transcript LRG_226t1 not found ERR:Data provider error: ValueError: Transcript LRG_226t1 not found ERR:AlignmentMapper(tx_ac=LRG_226t1, alt_ac=LRG_226t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_226t1, alt_ac=LRG_226t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_226t1 not found +NM_001037343.2:c.126_128del NP_001032420.1:p.Lys43del NC_000023.11:18564500:AAGAA:AA p.(Lys43del) NC_000023.11:18564500:AAGAA:AA p.(Lys43del) NC_000023.11:18564502:GAA: Identity +NM_001145288.2:c.1343A>G NP_001138760.1:p.Tyr448Cys NC_000012.12:100419881:A:G p.(Tyr448Cys) NC_000012.12:100419881:A:G p.(Tyr448Cys) NC_000012.12:100419881:A:G Identity +NM_170606.3:c.5360A>T NP_733751.2:p.Gln1787Leu NC_000007.14:152182499:T:A p.(Gln1787Leu) NC_000007.14:152182499:T:A p.(Gln1787Leu) NC_000007.14:152182499:T:A Identity +NM_001379081.2:c.2647C>T NP_001366010.1:p.Pro883Ser NC_000009.12:14813057:G:A p.(Pro883Ser) NC_000009.12:14813057:G:A p.(Pro883Ser) NC_000009.12:14813057:G:A Identity +NM_005120.3:c.1132G>A NP_005111.2:p.Val378Ile NC_000023.11:71122229:G:A p.(Val378Ile) NC_000023.11:71122229:G:A p.(Val378Ile) NC_000023.11:71122229:G:A Identity +NM_001077186.2:c.4255C>T NP_001070654.1:p.Arg1419Trp NC_000019.10:50281656:C:T p.(Arg1419Trp) NC_000019.10:50281656:C:T p.(Arg1419Trp) NC_000019.10:50281656:C:T Identity +NM_000158.4:c.1388C>G NP_000149.4:p.Thr463Arg NC_000003.12:81581222:G:C p.(Thr463Arg) NC_000003.12:81581222:G:C p.(Thr463Arg) NC_000003.12:81581222:G:C Identity +NM_057176.3:c.868A>G NP_476517.1:p.Lys290Glu NC_000001.11:55008532:A:G p.(Lys290Glu) NC_000001.11:55008532:A:G p.(Lys290Glu) NC_000001.11:55008532:A:G Identity +NM_001127487.2:c.1981G>A NP_001120959.1:p.Ala661Thr NC_000007.14:128841336:G:A p.(Ala661Thr) NC_000007.14:128841336:G:A p.(Ala661Thr) NC_000007.14:128841336:G:A Identity +NM_001288653.2:c.3176T>C NP_001275582.1:p.Ile1059Thr NC_000017.11:59681392:T:C p.(Ile1059Thr) NC_000017.11:59681392:T:C p.(Ile1059Thr) NC_000017.11:59681392:T:C Identity +NM_001282279.2:c.529G>A NP_001269208.1:p.Gly177Ser NC_000017.11:81934936:C:T p.(Gly177Ser) NC_000017.11:81934936:C:T p.(Gly177Ser) NC_000017.11:81934936:C:T Identity +NM_000338.3:c.2882C>T NP_000329.2:p.Ser961Phe NC_000015.10:48291785:C:T p.(Ser961Phe) NC_000015.10:48291785:C:T p.(Ser961Phe) NC_000015.10:48291785:C:T Identity +NM_001304840.3:c.1883A>G NP_001291769.1:p.Gln628Arg NC_000002.12:196292613:T:C p.(Gln628Arg) NC_000002.12:196292613:T:C p.(Gln628Arg) NC_000002.12:196292613:T:C Identity +NM_001165963.4:c.3064_3065delinsAA NP_001159435.1:p.Gly1022Lys NC_000002.12:166036411:CC:TT p.(Gly1022Lys) NC_000002.12:166036411:CC:TT p.(Gly1022Lys) NC_000002.12:166036411:CC:TT Identity +NM_001110556.2:c.2135A>G NP_001104026.1:p.Gln712Arg NC_000023.11:154364259:T:C p.(Gln712Arg) NC_000023.11:154364259:T:C p.(Gln712Arg) NC_000023.11:154364259:T:C Identity +NM_016628.5:c.1643C>T NP_057712.2:p.Ser548Phe NC_000010.11:28616258:C:T p.(Ser548Phe) NC_000010.11:28616258:C:T p.(Ser548Phe) NC_000010.11:28616258:C:T Identity +NM_001083961.2:c.4397T>A NP_001077430.1:p.Leu1466Gln NC_000019.10:36104852:T:A p.(Leu1466Gln) NC_000019.10:36104852:T:A p.(Leu1466Gln) NC_000019.10:36104852:T:A Identity +NM_001308093.3:c.870G>T NP_001295022.1:p.Glu290Asp NC_000008.11:11750193:G:T p.(Glu290Asp) NC_000008.11:11750193:G:T p.(Glu290Asp) NC_000008.11:11750193:G:T Identity +NM_001376.5:c.12142G>A NP_001367.2:p.Gly4048Ser NC_000014.9:102042051:G:A p.(Gly4048Ser) NC_000014.9:102042051:G:A p.(Gly4048Ser) NC_000014.9:102042051:G:A Identity +NM_001126054.3:c.1504G>A NP_001119526.1:p.Gly502Arg NC_000023.11:41569745:C:T p.(Gly502Arg) NC_000023.11:41569745:C:T p.(Gly502Arg) NC_000023.11:41569745:C:T Identity +NM_001284333.3:c.174T>G NP_001271262.1:p.Asn58Lys NC_000017.11:62522223:T:G p.(Asn58Lys) NC_000017.11:62522223:T:G p.(Asn58Lys) NC_000017.11:62522223:T:G Identity +NM_001257361.2:c.1327C>A NP_001244290.1:p.His443Asn NC_000001.11:109628753:C:A p.(His443Asn) NC_000001.11:109628753:C:A p.(His443Asn) NC_000001.11:109628753:C:A Identity +LRG_738t1:c.3307C>A LRG_738p1:p.Pro1103Thr NC_000002.12:189045801:G:T ERR:Data provider error: ValueError: Transcript LRG_738t1 not found ERR:Data provider error: ValueError: Transcript LRG_738t1 not found ERR:AlignmentMapper(tx_ac=LRG_738t1, alt_ac=LRG_738t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_738t1, alt_ac=LRG_738t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_738t1 not found +NM_000372.5:c.1213C>T NP_000363.1:p.Arg405Cys NC_000011.10:89284800:C:T p.(Arg405Cys) NC_000011.10:89284800:C:T p.(Arg405Cys) NC_000011.10:89284800:C:T Identity +NM_000068.4:c.1888C>A NP_000059.3:p.Leu630Ile NC_000019.10:13308147:G:T p.(Leu630Ile) NC_000019.10:13308147:G:T p.(Leu630Ile) NC_000019.10:13308147:G:T Identity +NM_005477.3:c.3251A>T NP_005468.1:p.Lys1084Met NC_000015.10:73322841:T:A p.(Lys1084Met) NC_000015.10:73322841:T:A p.(Lys1084Met) NC_000015.10:73322841:T:A Identity +NM_000495.5:c.4552T>G NP_000486.1:p.Phe1518Val NC_000023.11:108692788:T:G p.(Phe1518Val) NC_000023.11:108692788:T:G p.(Phe1518Val) NC_000023.11:108692788:T:G Identity +NM_001039590.3:c.2483A>G NP_001034679.2:p.Asp828Gly NC_000023.11:41168064:A:G p.(Asp828Gly) NC_000023.11:41168064:A:G p.(Asp828Gly) NC_000023.11:41168064:A:G Identity +NM_001185090.2:c.2753C>G NP_001172019.1:p.Ser918Cys NC_000009.12:137165285:C:G p.(Ser918Cys) NC_000009.12:137165285:C:G p.(Ser918Cys) NC_000009.12:137165285:C:G Identity +NM_000501.4:c.1009C>T NP_000492.2:p.Pro337Ser NC_000007.14:74053221:C:T p.(Pro337Ser) NC_000007.14:74053221:C:T p.(Pro337Ser) NC_000007.14:74053221:C:T Identity +NM_024592.5:c.869T>C NP_078868.1:p.Leu290Pro NC_000004.12:55370002:T:C p.(Leu290Pro) NC_000004.12:55370002:T:C p.(Leu290Pro) NC_000004.12:55370002:T:C Identity +NM_001352773.2:c.2044G>A NP_001339702.1:p.Ala682Thr NC_000017.11:41757416:C:T p.(Ala682Thr) NC_000017.11:41757416:C:T p.(Ala682Thr) NC_000017.11:41757416:C:T Identity +NM_001024847.3:c.1492C>T NP_001020018.1:p.Pro498Ser NC_000003.12:30688403:C:T p.(Pro498Ser) NC_000003.12:30688403:C:T p.(Pro498Ser) NC_000003.12:30688403:C:T Identity +NM_001321207.2:c.629C>G NP_001308136.1:p.Ser210Cys NC_000017.11:31975587:C:G p.(Ser210Cys) NC_000017.11:31975587:C:G p.(Ser210Cys) NC_000017.11:31975587:C:G Identity +NM_001351273.1:c.2912C>G NP_001338202.1:p.Pro971Arg NC_000019.10:1466215:C:G p.(Pro971Arg) NC_000019.10:1466215:C:G p.(Pro971Arg) NC_000019.10:1466215:C:G Identity +NM_001386339.1:c.1498C>G NP_001373268.1:p.Arg500Gly NC_000011.10:9968442:G:C p.(Arg500Gly) NC_000011.10:9968442:G:C p.(Arg500Gly) NC_000011.10:9968442:G:C Identity +NM_001003800.2:c.162G>C NP_001003800.1:p.Lys54Asn NC_000009.12:92764582:C:G p.(Lys54Asn) NC_000009.12:92764582:C:G p.(Lys54Asn) NC_000009.12:92764582:C:G Identity +LRG_590t2:c.194C>T LRG_590p2:p.Ser65Phe NC_000022.11:26477059:G:A ERR:Data provider error: ValueError: Transcript LRG_590t2 not found ERR:Data provider error: ValueError: Transcript LRG_590t2 not found ERR:AlignmentMapper(tx_ac=LRG_590t2, alt_ac=LRG_590t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_590t2, alt_ac=LRG_590t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_590t2 not found +NM_001145357.2:c.1412G>A NP_001138829.1:p.Arg471Gln NC_000015.10:75401965:C:T p.(Arg471Gln) NC_000015.10:75401965:C:T p.(Arg471Gln) NC_000015.10:75401965:C:T Identity +NM_001368395.3:c.311A>G NP_001355324.1:p.Glu104Gly NC_000023.11:12609761:A:G p.(Glu104Gly) NC_000023.11:12609761:A:G p.(Glu104Gly) NC_000023.11:12609761:A:G Identity +NM_000251.3:c.1769A>T NP_000242.1:p.Glu590Val NC_000002.12:47475033:A:T p.(Glu590Val) NC_000002.12:47475033:A:T p.(Glu590Val) NC_000002.12:47475033:A:T Identity +NM_003482.4:c.2531C>T NP_003473.3:p.Pro844Leu NC_000012.12:49051151:G:A p.(Pro844Leu) NC_000012.12:49051151:G:A p.(Pro844Leu) NC_000012.12:49051151:G:A Identity +NM_001130455.2:c.6104C>A NP_001123927.1:p.Thr2035Asn NC_000002.12:71682573:C:A p.(Thr2035Asn) NC_000002.12:71682573:C:A p.(Thr2035Asn) NC_000002.12:71682573:C:A Identity +NM_001378183.1:c.8491C>T NP_001365112.1:p.Arg2831Ter NC_000018.10:10671633:G:A p.(Arg2831Ter) NC_000018.10:10671633:G:A p.(Arg2831Ter) NC_000018.10:10671633:G:A Identity +NM_001308133.2:c.4234C>T NP_001295062.1:p.Pro1412Ser NC_000014.9:45181518:C:T p.(Pro1412Ser) NC_000014.9:45181518:C:T p.(Pro1412Ser) NC_000014.9:45181518:C:T Identity +NM_001099952.4:c.5188C>A NP_001093422.2:p.Pro1730Thr NC_000003.12:4733198:C:A p.(Pro1730Thr) NC_000003.12:4733198:C:A p.(Pro1730Thr) NC_000003.12:4733198:C:A Identity +NM_001362949.2:c.1570A>C NP_001349878.1:p.Met524Leu NC_000022.11:33304388:T:G p.(Met524Leu) NC_000022.11:33304388:T:G p.(Met524Leu) NC_000022.11:33304388:T:G Identity +NM_003482.4:c.620T>A NP_003473.3:p.Met207Lys NC_000012.12:49054030:A:T p.(Met207Lys) NC_000012.12:49054030:A:T p.(Met207Lys) NC_000012.12:49054030:A:T Identity +LRG_1382t1:c.748G>C LRG_1382p1:p.Glu250Gln NC_000003.12:191375360:G:C ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found ERR:AlignmentMapper(tx_ac=LRG_1382t1, alt_ac=LRG_1382t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1382t1, alt_ac=LRG_1382t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1382t1 not found +NM_002334.4:c.278A>G NP_002325.2:p.Asp93Gly NC_000011.10:46900299:T:C p.(Asp93Gly) NC_000011.10:46900299:T:C p.(Asp93Gly) NC_000011.10:46900299:T:C Identity +NM_001352252.2:c.860C>T NP_001339181.1:p.Thr287Met NC_000013.11:110641585:G:A p.(Thr287Met) NC_000013.11:110641585:G:A p.(Thr287Met) NC_000013.11:110641585:G:A Identity +NM_000143.4:c.772G>A NP_000134.2:p.Ala258Thr NC_000001.11:241506134:C:T p.(Ala258Thr) NC_000001.11:241506134:C:T p.(Ala258Thr) NC_000001.11:241506134:C:T Identity +NM_000097.7:c.352G>A NP_000088.3:p.Glu118Lys NC_000003.12:98593152:C:T p.(Glu118Lys) NC_000003.12:98593152:C:T p.(Glu118Lys) NC_000003.12:98593152:C:T Identity +NM_001291415.2:c.2908T>C NP_001278344.1:p.Cys970Arg NC_000023.11:45076745:T:C p.(Cys970Arg) NC_000023.11:45076745:T:C p.(Cys970Arg) NC_000023.11:45076745:T:C Identity +NM_001287491.2:c.5266C>G NP_001274420.1:p.Gln1756Glu NC_000002.12:74102053:C:G p.(Gln1756Glu) NC_000002.12:74102053:C:G p.(Gln1756Glu) NC_000002.12:74102053:C:G Identity +NM_000088.4:c.3197G>A NP_000079.2:p.Arg1066His NC_000017.11:50188539:C:T p.(Arg1066His) NC_000017.11:50188539:C:T p.(Arg1066His) NC_000017.11:50188539:C:T Identity +NM_001282280.2:c.610C>A NP_001269209.1:p.Arg204Ser NC_000017.11:81934675:G:T p.(Arg204Ser) NC_000017.11:81934675:G:T p.(Arg204Ser) NC_000017.11:81934675:G:T Identity +NM_001079846.1:c.6996G>T NP_001073315.1:p.Gln2332His NC_000016.10:3727936:C:A p.(Gln2332His) NC_000016.10:3727936:C:A p.(Gln2332His) NC_000016.10:3727936:C:A Identity +NM_001378120.1:c.322G>A NP_001365049.1:p.Ala108Thr NC_000002.12:148463843:G:A p.(Ala108Thr) NC_000002.12:148463843:G:A p.(Ala108Thr) NC_000002.12:148463843:G:A Identity +NM_001291902.2:c.2284T>C NP_001278831.1:p.Cys762Arg NC_000011.10:68436914:T:C p.(Cys762Arg) NC_000011.10:68436914:T:C p.(Cys762Arg) NC_000011.10:68436914:T:C Identity +NM_018136.5:c.8577G>C NP_060606.3:p.Gln2859His NC_000001.11:197100673:C:G p.(Gln2859His) NC_000001.11:197100673:C:G p.(Gln2859His) NC_000001.11:197100673:C:G Identity +NM_001110556.2:c.2302C>A NP_001104026.1:p.His768Asn NC_000023.11:154362762:G:T p.(His768Asn) NC_000023.11:154362762:G:T p.(His768Asn) NC_000023.11:154362762:G:T Identity +NM_001165967.2:c.141C>A NP_001159439.1:p.Asn47Lys NC_000017.11:8122427:G:T p.(Asn47Lys) NC_000017.11:8122427:G:T p.(Asn47Lys) NC_000017.11:8122427:G:T Identity +NM_005245.4:c.1030C>T NP_005236.2:p.Pro344Ser NC_000004.12:186708797:G:A p.(Pro344Ser) NC_000004.12:186708797:G:A p.(Pro344Ser) NC_000004.12:186708797:G:A Identity +NM_001190992.2:c.80G>A NP_001177921.1:p.Ser27Asn NC_000003.12:155853917:C:T p.(Ser27Asn) NC_000003.12:155853917:C:T p.(Ser27Asn) NC_000003.12:155853917:C:T Identity +NM_001008222.3:c.425A>T NP_001008223.1:p.Tyr142Phe NC_000023.11:129823740:T:A p.(Tyr142Phe) NC_000023.11:129823740:T:A p.(Tyr142Phe) NC_000023.11:129823740:T:A Identity +NM_001101802.3:c.370A>G NP_001095272.1:p.Thr124Ala NC_000011.10:45971357:T:C p.(Thr124Ala) NC_000011.10:45971357:T:C p.(Thr124Ala) NC_000011.10:45971357:T:C Identity +NM_003737.4:c.5911C>T NP_003728.1:p.Arg1971Cys NC_000011.10:6627127:G:A p.(Arg1971Cys) NC_000011.10:6627127:G:A p.(Arg1971Cys) NC_000011.10:6627127:G:A Identity +NM_001145408.2:c.1057G>A NP_001138880.1:p.Glu353Lys NC_000023.11:71297863:G:A p.(Glu353Lys) NC_000023.11:71297863:G:A p.(Glu353Lys) NC_000023.11:71297863:G:A Identity +NM_005120.3:c.2596C>T NP_005111.2:p.His866Tyr NC_000023.11:71126394:C:T p.(His866Tyr) NC_000023.11:71126394:C:T p.(His866Tyr) NC_000023.11:71126394:C:T Identity +NM_001287491.2:c.5237G>T NP_001274420.1:p.Trp1746Leu NC_000002.12:74102024:G:T p.(Trp1746Leu) NC_000002.12:74102024:G:T p.(Trp1746Leu) NC_000002.12:74102024:G:T Identity +NM_014714.4:c.238T>A NP_055529.2:p.Trp80Arg NC_000016.10:1602500:A:T p.(Trp80Arg) NC_000016.10:1602500:A:T p.(Trp80Arg) NC_000016.10:1602500:A:T Identity +NM_001256532.1:c.647A>G NP_001243461.1:p.His216Arg NC_000001.11:155612068:A:G p.(His216Arg) NC_000001.11:155612068:A:G p.(His216Arg) NC_000001.11:155612068:A:G Identity +NM_014391.3:c.118G>A NP_055206.2:p.Glu40Lys NC_000010.11:90920257:C:T p.(Glu40Lys) NC_000010.11:90920257:C:T p.(Glu40Lys) NC_000010.11:90920257:C:T Identity +NM_001368395.3:c.2798T>C NP_001355324.1:p.Leu933Ser NC_000023.11:12717512:T:C p.(Leu933Ser) NC_000023.11:12717512:T:C p.(Leu933Ser) NC_000023.11:12717512:T:C Identity +NM_001130144.3:c.2708A>C NP_001123616.1:p.Asp903Ala NC_000011.10:65541616:T:G p.(Asp903Ala) NC_000011.10:65541616:T:G p.(Asp903Ala) NC_000011.10:65541616:T:G Identity +NM_181523.3:c.62A>T NP_852664.1:p.Asp21Val NC_000005.10:68226736:A:T p.(Asp21Val) NC_000005.10:68226736:A:T p.(Asp21Val) NC_000005.10:68226736:A:T Identity +NM_021072.4:c.1493del NP_066550.2:p.Pro498fs NC_000005.10:45303723:GG:G p.(Pro498LeufsTer33) NC_000005.10:45303723:GG:G p.(Pro498LeufsTer33) NC_000005.10:45303723:G: Analogous +NM_000501.4:c.851G>A NP_000492.2:p.Gly284Asp NC_000007.14:74051800:G:A p.(Gly284Asp) NC_000007.14:74051800:G:A p.(Gly284Asp) NC_000007.14:74051800:G:A Identity +NM_001378120.1:c.4312G>A NP_001365049.1:p.Gly1438Arg NC_000002.12:148489943:G:A p.(Gly1438Arg) NC_000002.12:148489943:G:A p.(Gly1438Arg) NC_000002.12:148489943:G:A Identity +NM_001267722.2:c.289G>A NP_001254651.1:p.Ala97Thr NC_000004.12:56471777:G:A p.(Ala97Thr) NC_000004.12:56471777:G:A p.(Ala97Thr) NC_000004.12:56471777:G:A Identity +NM_001394062.1:c.14429A>T NP_001380991.1:p.Asp4810Val NC_000001.11:39387270:A:T p.(Asp4810Val) NC_000001.11:39387270:A:T p.(Asp4810Val) NC_000001.11:39387270:A:T Identity +NM_001999.4:c.3877A>T NP_001990.2:p.Ile1293Phe NC_000005.10:128335265:T:A p.(Ile1293Phe) NC_000005.10:128335265:T:A p.(Ile1293Phe) NC_000005.10:128335265:T:A Identity +NM_000260.4:c.2813A>G NP_000251.3:p.Asn938Ser NC_000011.10:77181497:A:G p.(Asn938Ser) NC_000011.10:77181497:A:G p.(Asn938Ser) NC_000011.10:77181497:A:G Identity +NM_000068.4:c.6386G>A NP_000059.3:p.Arg2129His NC_000019.10:13209469:C:T p.(Arg2129His) NC_000019.10:13209469:C:T p.(Arg2129His) NC_000019.10:13209469:C:T Identity +NM_031307.4:c.569G>A NP_112597.4:p.Cys190Tyr NC_000011.10:125895598:C:T p.(Cys190Tyr) NC_000011.10:125895598:C:T p.(Cys190Tyr) NC_000011.10:125895598:C:T Identity +NM_001193307.2:c.457A>G NP_001180236.1:p.Arg153Gly NC_000007.14:93105640:T:C p.(Arg153Gly) NC_000007.14:93105640:T:C p.(Arg153Gly) NC_000007.14:93105640:T:C Identity +NM_014727.3:c.371A>G NP_055542.1:p.Gln124Arg NC_000019.10:35719475:A:G p.(Gln124Arg) NC_000019.10:35719475:A:G p.(Gln124Arg) NC_000019.10:35719475:A:G Identity +NM_001368395.3:c.3019G>T NP_001355324.1:p.Ala1007Ser NC_000023.11:12717733:G:T p.(Ala1007Ser) NC_000023.11:12717733:G:T p.(Ala1007Ser) NC_000023.11:12717733:G:T Identity +NM_001165963.4:c.86T>C NP_001159435.1:p.Ile29Thr NC_000002.12:166073535:A:G p.(Ile29Thr) NC_000002.12:166073535:A:G p.(Ile29Thr) NC_000002.12:166073535:A:G Identity +NM_001365276.2:c.5536G>A NP_001352205.1:p.Gly1846Arg NC_000006.12:32069603:C:T p.(Gly1846Arg) NC_000006.12:32069603:C:T p.(Gly1846Arg) NC_000006.12:32069603:C:T Identity +NM_000094.4:c.5339G>A NP_000085.1:p.Arg1780Gln NC_000003.12:48579245:C:T p.(Arg1780Gln) NC_000003.12:48579245:C:T p.(Arg1780Gln) NC_000003.12:48579245:C:T Identity +NM_001166418.2:c.562A>G NP_001159890.1:p.Met188Val NC_000023.11:72464633:T:C p.(Met188Val) NC_000023.11:72464633:T:C p.(Met188Val) NC_000023.11:72464633:T:C Identity +NM_000068.4:c.3937C>T NP_000059.3:p.Arg1313Cys NC_000019.10:13275913:G:A p.(Arg1313Cys) NC_000019.10:13275913:G:A p.(Arg1313Cys) NC_000019.10:13275913:G:A Identity +NM_001184985.2:c.3995A>C NP_001171914.1:p.His1332Pro NC_000012.12:881915:A:C p.(His1332Pro) NC_000012.12:881915:A:C p.(His1332Pro) NC_000012.12:881915:A:C Identity +NM_001142864.4:c.2561C>T NP_001136336.2:p.Ala854Val NC_000016.10:88733380:G:A p.(Ala854Val) NC_000016.10:88733380:G:A p.(Ala854Val) NC_000016.10:88733380:G:A Identity +NM_000068.4:c.6083G>A NP_000059.3:p.Ser2028Asn NC_000019.10:13212507:C:T p.(Ser2028Asn) NC_000019.10:13212507:C:T p.(Ser2028Asn) NC_000019.10:13212507:C:T Identity +NM_001191028.3:c.2411T>C NP_001177957.2:p.Phe804Ser NC_000007.14:128967387:A:G p.(Phe804Ser) NC_000007.14:128967387:A:G p.(Phe804Ser) NC_000007.14:128967387:A:G Identity +NM_003632.3:c.1991A>G NP_003623.1:p.Asn664Ser NC_000017.11:42690873:A:G p.(Asn664Ser) NC_000017.11:42690873:A:G p.(Asn664Ser) NC_000017.11:42690873:A:G Identity +NM_006420.3:c.2407G>T NP_006411.2:p.Gly803Cys NC_000020.11:48988535:G:T p.(Gly803Cys) NC_000020.11:48988535:G:T p.(Gly803Cys) NC_000020.11:48988535:G:T Identity +NM_001270476.2:c.1087C>T NP_001257405.1:p.Arg363Trp NC_000006.12:43010721:C:T p.(Arg363Trp) NC_000006.12:43010721:C:T p.(Arg363Trp) NC_000006.12:43010721:C:T Identity +NM_001365276.2:c.5104G>T NP_001352205.1:p.Asp1702Tyr NC_000006.12:32070300:C:A p.(Asp1702Tyr) NC_000006.12:32070300:C:A p.(Asp1702Tyr) NC_000006.12:32070300:C:A Identity +NM_000138.5:c.1096T>C NP_000129.3:p.Trp366Arg NC_000015.10:48520709:A:G p.(Trp366Arg) NC_000015.10:48520709:A:G p.(Trp366Arg) NC_000015.10:48520709:A:G Identity +NM_004459.7:c.6648G>C NP_004450.3:p.Gln2216His NC_000017.11:67940448:G:C p.(Gln2216His) NC_000017.11:67940448:G:C p.(Gln2216His) NC_000017.11:67940448:G:C Identity +NM_001114980.2:c.1739G>A NP_001108452.1:p.Arg580His NC_000003.12:189894479:G:A p.(Arg580His) NC_000003.12:189894479:G:A p.(Arg580His) NC_000003.12:189894479:G:A Identity +NM_001378454.1:c.46G>A NP_001365383.1:p.Glu16Lys NC_000002.12:73385913:G:A p.(Glu16Lys) NC_000002.12:73385913:G:A p.(Glu16Lys) NC_000002.12:73385913:G:A Identity +NM_001363813.1:c.679A>C NP_001350742.1:p.Thr227Pro NC_000017.11:65557941:T:G p.(Thr227Pro) NC_000017.11:65557941:T:G p.(Thr227Pro) NC_000017.11:65557941:T:G Identity +NM_000142.5:c.965A>G NP_000133.1:p.Glu322Gly NC_000004.12:1803725:A:G p.(Glu322Gly) NC_000004.12:1803725:A:G p.(Glu322Gly) NC_000004.12:1803725:A:G Identity +NM_001195291.3:c.893C>A NP_001182220.2:p.Ala298Asp NC_000006.12:2948547:G:T p.(Ala298Asp) NC_000006.12:2948547:G:T p.(Ala298Asp) NC_000006.12:2948547:G:T Identity +NM_000404.4:c.1283A>G NP_000395.3:p.Asn428Ser NC_000003.12:33018511:T:C p.(Asn428Ser) NC_000003.12:33018511:T:C p.(Asn428Ser) NC_000003.12:33018511:T:C Identity +NM_000153.4:c.49A>C NP_000144.2:p.Met17Leu NC_000014.9:87993115:T:G p.(Met17Leu) NC_000014.9:87993115:T:G p.(Met17Leu) NC_000014.9:87993115:T:G Identity +NM_000836.4:c.460C>G NP_000827.2:p.Pro154Ala NC_000019.10:48398851:C:G p.(Pro154Ala) NC_000019.10:48398851:C:G p.(Pro154Ala) NC_000019.10:48398851:C:G Identity +NM_016148.5:c.2137C>T NP_057232.2:p.Arg713Ter NC_000019.10:50688878:G:A p.(Arg713Ter) NC_000019.10:50688878:G:A p.(Arg713Ter) NC_000019.10:50688878:G:A Identity +NM_003793.4:c.772G>A NP_003784.2:p.Gly258Ser NC_000011.10:66566116:C:T p.(Gly258Ser) NC_000011.10:66566116:C:T p.(Gly258Ser) NC_000011.10:66566116:C:T Identity +NM_001160372.4:c.902A>G NP_001153844.1:p.Asn301Ser NC_000008.11:140405682:T:C p.(Asn301Ser) NC_000008.11:140405682:T:C p.(Asn301Ser) NC_000008.11:140405682:T:C Identity +NM_000142.5:c.2337del NP_000133.1:p.Ser780fs NC_000004.12:1807177:C: p.(Ser780ProfsTer40) NC_000004.12:1807177:C: p.(Ser780ProfsTer40) NC_000004.12:1807177:C: Analogous +NM_000268.4:c.1001T>A NP_000259.1:p.Met334Lys NC_000022.11:29671826:T:A p.(Met334Lys) NC_000022.11:29671826:T:A p.(Met334Lys) NC_000022.11:29671826:T:A Identity +NM_017617.5:c.637C>G NP_060087.3:p.Pro213Ala NC_000009.12:136522954:G:C p.(Pro213Ala) NC_000009.12:136522954:G:C p.(Pro213Ala) NC_000009.12:136522954:G:C Identity +NM_001172509.2:c.2137G>A NP_001165980.1:p.Val713Met NC_000002.12:199272275:C:T p.(Val713Met) NC_000002.12:199272275:C:T p.(Val713Met) NC_000002.12:199272275:C:T Identity +NM_001365276.2:c.8989C>T NP_001352205.1:p.Arg2997Cys NC_000006.12:32052795:G:A p.(Arg2997Cys) NC_000006.12:32052795:G:A p.(Arg2997Cys) NC_000006.12:32052795:G:A Identity +NM_052874.5:c.766T>C NP_443106.1:p.Tyr256His NC_000016.10:30993149:A:G p.(Tyr256His) NC_000016.10:30993149:A:G p.(Tyr256His) NC_000016.10:30993149:A:G Identity +NM_001024688.3:c.478G>C NP_001019859.1:p.Val160Leu NC_000008.11:89970535:C:G p.(Val160Leu) NC_000008.11:89970535:C:G p.(Val160Leu) NC_000008.11:89970535:C:G Identity +NM_002547.3:c.2149C>T NP_002538.1:p.His717Tyr NC_000023.11:68063862:G:A p.(His717Tyr) NC_000023.11:68063862:G:A p.(His717Tyr) NC_000023.11:68063862:G:A Identity +NM_001282539.2:c.272_275del NP_001269468.1:p.His91fs NC_000001.11:1804573:GCGTG:G p.(His91ProfsTer10) NC_000001.11:1804573:GCGTG:G p.(His91ProfsTer10) NC_000001.11:1804573:GCGT: Analogous +NM_001145468.4:c.2116C>T NP_001138940.4:p.His706Tyr NC_000022.11:24324396:C:T p.(His706Tyr) NC_000022.11:24324396:C:T p.(His706Tyr) NC_000022.11:24324396:C:T Identity +NM_000109.4:c.9725A>C NP_000100.3:p.Glu3242Ala NC_000023.11:31204018:T:G p.(Glu3242Ala) NC_000023.11:31204018:T:G p.(Glu3242Ala) NC_000023.11:31204018:T:G Identity +NM_001271.4:c.3151C>G NP_001262.3:p.Gln1051Glu NC_000015.10:92984413:C:G p.(Gln1051Glu) NC_000015.10:92984413:C:G p.(Gln1051Glu) NC_000015.10:92984413:C:G Identity +NM_001377517.1:c.2027C>T NP_001364446.1:p.Pro676Leu NC_000014.9:67169010:C:T p.(Pro676Leu) NC_000014.9:67169010:C:T p.(Pro676Leu) NC_000014.9:67169010:C:T Identity +NM_001407571.1:c.637del NP_001394500.1:p.Gln213fs NC_000017.11:43094680:G: p.(Gln213SerfsTer14) NC_000017.11:43094680:G: p.(Gln213SerfsTer14) NC_000017.11:43094680:G: Analogous +NM_001349370.3:c.1723A>G NP_001336299.1:p.Asn575Asp NC_000003.12:47122780:T:C p.(Asn575Asp) NC_000003.12:47122780:T:C p.(Asn575Asp) NC_000003.12:47122780:T:C Identity +NM_001382708.1:c.1361A>T NP_001369637.1:p.Asp454Val NC_000002.12:219425737:A:T p.(Asp454Val) NC_000002.12:219425737:A:T p.(Asp454Val) NC_000002.12:219425737:A:T Identity +NM_000260.4:c.5692A>C NP_000251.3:p.Lys1898Gln NC_000011.10:77206151:A:C p.(Lys1898Gln) NC_000011.10:77206151:A:C p.(Lys1898Gln) NC_000011.10:77206151:A:C Identity +NM_001001935.3:c.158A>T NP_001001935.1:p.Lys53Met NC_000018.10:46091682:T:A p.(Lys53Met) NC_000018.10:46091682:T:A p.(Lys53Met) NC_000018.10:46091682:T:A Identity +NM_000257.4:c.5002A>G NP_000248.2:p.Lys1668Glu NC_000014.9:23415783:T:C p.(Lys1668Glu) NC_000014.9:23415783:T:C p.(Lys1668Glu) NC_000014.9:23415783:T:C Identity +NM_000059.4:c.4880T>C NP_000050.3:p.Leu1627Pro NC_000013.11:32339234:T:C p.(Leu1627Pro) NC_000013.11:32339234:T:C p.(Leu1627Pro) NC_000013.11:32339234:T:C Identity +NM_001329729.2:c.1400G>A NP_001316658.1:p.Gly467Glu NC_000016.10:50102265:G:A p.(Gly467Glu) NC_000016.10:50102265:G:A p.(Gly467Glu) NC_000016.10:50102265:G:A Identity +NM_001103.4:c.1589A>G NP_001094.1:p.Asn530Ser NC_000001.11:236749196:A:G p.(Asn530Ser) NC_000001.11:236749196:A:G p.(Asn530Ser) NC_000001.11:236749196:A:G Identity +NM_000257.4:c.3506C>T NP_000248.2:p.Ala1169Val NC_000014.9:23420064:G:A p.(Ala1169Val) NC_000014.9:23420064:G:A p.(Ala1169Val) NC_000014.9:23420064:G:A Identity +LRG_1108t1:c.1906G>C LRG_1108p1:p.Ala636Pro NC_000003.12:41236450:G:C ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found ERR:AlignmentMapper(tx_ac=LRG_1108t1, alt_ac=LRG_1108t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1108t1, alt_ac=LRG_1108t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1108t1 not found +NM_000257.4:c.1178C>A NP_000248.2:p.Ala393Asp NC_000014.9:23429307:G:T p.(Ala393Asp) NC_000014.9:23429307:G:T p.(Ala393Asp) NC_000014.9:23429307:G:T Identity +NM_001148.6:c.8035T>C NP_001139.3:p.Ser2679Pro NC_000004.12:113356652:T:C p.(Ser2679Pro) NC_000004.12:113356652:T:C p.(Ser2679Pro) NC_000004.12:113356652:T:C Identity +LRG_1389t1:c.5744T>C LRG_1389p1:p.Phe1915Ser NC_000012.12:51807229:T:C ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1389t1, alt_ac=LRG_1389t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1389t1 not found +NM_001220765.3:c.122C>T NP_001207694.1:p.Ser41Leu NC_000007.14:50327718:C:T p.(Ser41Leu) NC_000007.14:50327718:C:T p.(Ser41Leu) NC_000007.14:50327718:C:T Identity +NM_002160.4:c.115G>A NP_002151.2:p.Ala39Thr NC_000009.12:115090903:C:T p.(Ala39Thr) NC_000009.12:115090903:C:T p.(Ala39Thr) NC_000009.12:115090903:C:T Identity +NM_001111125.3:c.883C>T NP_001104595.1:p.Arg295Trp NC_000023.11:53255915:G:A p.(Arg295Trp) NC_000023.11:53255915:G:A p.(Arg295Trp) NC_000023.11:53255915:G:A Identity +NM_003124.5:c.656G>A NP_003115.1:p.Arg219Gln NC_000002.12:72891406:G:A p.(Arg219Gln) NC_000002.12:72891406:G:A p.(Arg219Gln) NC_000002.12:72891406:G:A Identity +NM_001195227.2:c.1603G>T NP_001182156.1:p.Glu535Ter NC_000019.10:49182916:G:T p.(Glu535Ter) NC_000019.10:49182916:G:T p.(Glu535Ter) NC_000019.10:49182916:G:T Identity +NM_000314.8:c.169T>G NP_000305.3:p.Leu57Val NC_000010.11:87925516:T:G p.(Leu57Val) NC_000010.11:87925516:T:G p.(Leu57Val) NC_000010.11:87925516:T:G Identity +NM_000179.3:c.1382T>C NP_000170.1:p.Phe461Ser NC_000002.12:47799364:T:C p.(Phe461Ser) NC_000002.12:47799364:T:C p.(Phe461Ser) NC_000002.12:47799364:T:C Identity +NM_003922.4:c.9682G>A NP_003913.3:p.Ala3228Thr NC_000015.10:63656275:C:T p.(Ala3228Thr) NC_000015.10:63656275:C:T p.(Ala3228Thr) NC_000015.10:63656275:C:T Identity +NM_000088.4:c.1532G>A NP_000079.2:p.Arg511His NC_000017.11:50194430:C:T p.(Arg511His) NC_000017.11:50194430:C:T p.(Arg511His) NC_000017.11:50194430:C:T Identity +NM_001384158.1:c.1207C>T NP_001371087.1:p.Pro403Ser NC_000014.9:91877587:G:A p.(Pro403Ser) NC_000014.9:91877587:G:A p.(Pro403Ser) NC_000014.9:91877587:G:A Identity +NM_004370.6:c.647A>G NP_004361.3:p.Asn216Ser NC_000006.12:75189562:T:C p.(Asn216Ser) NC_000006.12:75189562:T:C p.(Asn216Ser) NC_000006.12:75189562:T:C Identity +NM_005045.4:c.6770C>T NP_005036.2:p.Ser2257Leu NC_000007.14:103540356:G:A p.(Ser2257Leu) NC_000007.14:103540356:G:A p.(Ser2257Leu) NC_000007.14:103540356:G:A Identity +NM_002160.4:c.5531C>T NP_002151.2:p.Thr1844Met NC_000009.12:115036222:G:A p.(Thr1844Met) NC_000009.12:115036222:G:A p.(Thr1844Met) NC_000009.12:115036222:G:A Identity +NM_014712.3:c.3679C>T NP_055527.1:p.Arg1227Ter NC_000016.10:30979464:C:T p.(Arg1227Ter) NC_000016.10:30979464:C:T p.(Arg1227Ter) NC_000016.10:30979464:C:T Identity +NM_001378969.1:c.1313C>T NP_001365898.1:p.Ser438Leu NC_000001.11:111780747:G:A p.(Ser438Leu) NC_000001.11:111780747:G:A p.(Ser438Leu) NC_000001.11:111780747:G:A Identity +NM_004656.4:c.1816G>A NP_004647.1:p.Ala606Thr NC_000003.12:52403211:C:T p.(Ala606Thr) NC_000003.12:52403211:C:T p.(Ala606Thr) NC_000003.12:52403211:C:T Identity +NM_000135.4:c.4118C>A NP_000126.2:p.Thr1373Lys NC_000016.10:89739181:G:T p.(Thr1373Lys) NC_000016.10:89739181:G:T p.(Thr1373Lys) NC_000016.10:89739181:G:T Identity +NM_000240.4:c.710A>T NP_000231.1:p.Gln237Leu NC_000023.11:43731304:A:T p.(Gln237Leu) NC_000023.11:43731304:A:T p.(Gln237Leu) NC_000023.11:43731304:A:T Identity +NM_001127713.1:c.38G>A NP_001121185.1:p.Gly13Glu NC_000014.9:50587833:G:A p.(Gly13Glu) NC_000014.9:50587833:G:A p.(Gly13Glu) NC_000014.9:50587833:G:A Identity +NM_001112741.2:c.1274T>A NP_001106212.1:p.Val425Glu NC_000011.10:17772367:T:A p.(Val425Glu) NC_000011.10:17772367:T:A p.(Val425Glu) NC_000011.10:17772367:T:A Identity +NM_000465.4:c.1603G>C NP_000456.2:p.Asp535His NC_000002.12:214752520:C:G p.(Asp535His) NC_000002.12:214752520:C:G p.(Asp535His) NC_000002.12:214752520:C:G Identity +NM_000138.5:c.2219A>C NP_000129.3:p.Glu740Ala NC_000015.10:48497339:T:G p.(Glu740Ala) NC_000015.10:48497339:T:G p.(Glu740Ala) NC_000015.10:48497339:T:G Identity +NM_001377273.1:c.3644C>A NP_001364202.1:p.Ala1215Asp NC_000012.12:21828982:G:T p.(Ala1215Asp) NC_000012.12:21828982:G:T p.(Ala1215Asp) NC_000012.12:21828982:G:T Identity +NM_031407.7:c.1582A>G NP_113584.3:p.Ile528Val NC_000023.11:53625165:T:C p.(Ile528Val) NC_000023.11:53625165:T:C p.(Ile528Val) NC_000023.11:53625165:T:C Identity +NM_018117.12:c.2470T>G NP_060587.8:p.Ser824Ala NC_000010.11:120890841:T:G p.(Ser824Ala) NC_000010.11:120890841:T:G p.(Ser824Ala) NC_000010.11:120890841:T:G Identity +NM_005334.3:c.5777A>T NP_005325.2:p.Tyr1926Phe NC_000023.11:153950469:T:A p.(Tyr1926Phe) NC_000023.11:153950469:T:A p.(Tyr1926Phe) NC_000023.11:153950469:T:A Identity +NM_001308093.3:c.626T>C NP_001295022.1:p.Phe209Ser NC_000008.11:11748924:T:C p.(Phe209Ser) NC_000008.11:11748924:T:C p.(Phe209Ser) NC_000008.11:11748924:T:C Identity +NM_000179.3:c.2110G>T NP_000170.1:p.Ala704Ser NC_000002.12:47800092:G:T p.(Ala704Ser) NC_000002.12:47800092:G:T p.(Ala704Ser) NC_000002.12:47800092:G:T Identity +NM_019066.5:c.1289T>G NP_061939.3:p.Val430Gly NC_000015.10:23646453:A:C p.(Val430Gly) NC_000015.10:23646453:A:C p.(Val430Gly) NC_000015.10:23646453:A:C Identity +NM_001369786.1:c.250A>G NP_001356715.1:p.Ile84Val NC_000012.12:25227273:T:C p.(Ile84Val) NC_000012.12:25227273:T:C p.(Ile84Val) NC_000012.12:25227273:T:C Identity +NM_001362930.2:c.194A>G NP_001349859.1:p.Glu65Gly NC_000008.11:74351349:A:G p.(Glu65Gly) NC_000008.11:74351349:A:G p.(Glu65Gly) NC_000008.11:74351349:A:G Identity +NM_017619.4:c.261dup NP_060089.1:p.Leu88fs NC_000001.11:103533757:AA:AAA p.(Leu88ThrfsTer11) NC_000001.11:103533757:AA:AAA p.(Leu88ThrfsTer11) ERR:SPDI Analogous +NM_001148.6:c.7713G>T NP_001139.3:p.Glu2571Asp NC_000004.12:113356330:G:T p.(Glu2571Asp) NC_000004.12:113356330:G:T p.(Glu2571Asp) NC_000004.12:113356330:G:T Identity +NM_000093.5:c.4374C>A NP_000084.3:p.Asp1458Glu NC_000009.12:134818882:C:A p.(Asp1458Glu) NC_000009.12:134818882:C:A p.(Asp1458Glu) NC_000009.12:134818882:C:A Identity +NM_001394372.1:c.2075_2078del NP_001381301.1:p.Thr692fs NC_000019.10:47681240:CTCACTCA:CTCA p.(Thr692ArgfsTer31) NC_000019.10:47681240:CTCACTCA:CTCA p.(Thr692ArgfsTer31) NC_000019.10:47681244:CTCA: Analogous +NM_001366177.2:c.7916T>C NP_001353106.1:p.Met2639Thr NC_000001.11:155344262:A:G p.(Met2639Thr) NC_000001.11:155344262:A:G p.(Met2639Thr) NC_000001.11:155344262:A:G Identity +NM_000179.3:c.3475T>G NP_000170.1:p.Tyr1159Asp NC_000002.12:47804945:T:G p.(Tyr1159Asp) NC_000002.12:47804945:T:G p.(Tyr1159Asp) NC_000002.12:47804945:T:G Identity +NM_001321309.2:c.2416C>T NP_001308238.1:p.Arg806Cys NC_000003.12:123700523:G:A p.(Arg806Cys) NC_000003.12:123700523:G:A p.(Arg806Cys) NC_000003.12:123700523:G:A Identity +NM_000489.6:c.2743A>G NP_000480.3:p.Ser915Gly NC_000023.11:77682512:T:C p.(Ser915Gly) NC_000023.11:77682512:T:C p.(Ser915Gly) NC_000023.11:77682512:T:C Identity +NM_001345950.1:c.1424C>T NP_001332879.1:p.Pro475Leu NC_000010.11:102657217:C:T p.(Pro475Leu) NC_000010.11:102657217:C:T p.(Pro475Leu) NC_000010.11:102657217:C:T Identity +NM_001351444.2:c.5438C>T NP_001338373.1:p.Thr1813Ile NC_000006.12:87259486:C:T p.(Thr1813Ile) NC_000006.12:87259486:C:T p.(Thr1813Ile) NC_000006.12:87259486:C:T Identity +NM_053025.4:c.92A>G NP_444253.3:p.Glu31Gly NC_000003.12:123793749:T:C p.(Glu31Gly) NC_000003.12:123793749:T:C p.(Glu31Gly) NC_000003.12:123793749:T:C Identity +NM_001286445.3:c.368C>T NP_001273374.1:p.Thr123Met NC_000006.12:24872935:G:A p.(Thr123Met) NC_000006.12:24872935:G:A p.(Thr123Met) NC_000006.12:24872935:G:A Identity +NM_003922.4:c.12129G>T NP_003913.3:p.Gln4043His NC_000015.10:63637607:C:A p.(Gln4043His) NC_000015.10:63637607:C:A p.(Gln4043His) NC_000015.10:63637607:C:A Identity +NM_001350234.2:c.1936C>G NP_001337163.1:p.Leu646Val NC_000001.11:9721570:C:G p.(Leu646Val) NC_000001.11:9721570:C:G p.(Leu646Val) NC_000001.11:9721570:C:G Identity +NM_001098209.2:c.2219G>A NP_001091679.1:p.Gly740Asp NC_000003.12:41239214:G:A p.(Gly740Asp) NC_000003.12:41239214:G:A p.(Gly740Asp) NC_000003.12:41239214:G:A Identity +NM_000314.8:c.1197A>T NP_000305.3:p.Gln399His NC_000010.11:87965456:A:T p.(Gln399His) NC_000010.11:87965456:A:T p.(Gln399His) NC_000010.11:87965456:A:T Identity +NM_005266.7:c.356G>A NP_005257.2:p.Gly119Asp NC_000001.11:147758882:C:T p.(Gly119Asp) NC_000001.11:147758882:C:T p.(Gly119Asp) NC_000001.11:147758882:C:T Identity +NM_006265.3:c.1526C>T NP_006256.1:p.Pro509Leu NC_000008.11:116850711:G:A p.(Pro509Leu) NC_000008.11:116850711:G:A p.(Pro509Leu) NC_000008.11:116850711:G:A Identity +NM_001035.3:c.13608A>C NP_001026.2:p.Arg4536Ser NC_000001.11:237792148:A:C p.(Arg4536Ser) NC_000001.11:237792148:A:C p.(Arg4536Ser) NC_000001.11:237792148:A:C Identity +NM_001148.6:c.5492C>T NP_001139.3:p.Ser1831Phe NC_000004.12:113354109:C:T p.(Ser1831Phe) NC_000004.12:113354109:C:T p.(Ser1831Phe) NC_000004.12:113354109:C:T Identity +NM_000093.5:c.1628A>G NP_000084.3:p.Glu543Gly NC_000009.12:134750847:A:G p.(Glu543Gly) NC_000009.12:134750847:A:G p.(Glu543Gly) NC_000009.12:134750847:A:G Identity +NM_152383.5:c.2263A>G NP_689596.4:p.Ser755Gly NC_000002.12:232334472:A:G p.(Ser755Gly) NC_000002.12:232334472:A:G p.(Ser755Gly) NC_000002.12:232334472:A:G Identity +NM_005120.3:c.6365A>G NP_005111.2:p.Gln2122Arg NC_000023.11:71141326:A:G p.(Gln2122Arg) NC_000023.11:71141326:A:G p.(Gln2122Arg) NC_000023.11:71141326:A:G Identity +NM_006420.3:c.710A>G NP_006411.2:p.Gln237Arg NC_000020.11:48953661:A:G p.(Gln237Arg) NC_000020.11:48953661:A:G p.(Gln237Arg) NC_000020.11:48953661:A:G Identity +NM_025009.5:c.878A>G NP_079285.2:p.Glu293Gly NC_000004.12:55965692:A:G p.(Glu293Gly) NC_000004.12:55965692:A:G p.(Glu293Gly) NC_000004.12:55965692:A:G Identity +NM_001142703.2:c.1211A>C NP_001136175.1:p.Tyr404Ser NC_000011.10:59125397:A:C p.(Tyr404Ser) NC_000011.10:59125397:A:C p.(Tyr404Ser) NC_000011.10:59125397:A:C Identity +NM_001083962.2:c.1165C>T NP_001077431.1:p.Arg389Cys NC_000018.10:55254681:G:A p.(Arg389Cys) NC_000018.10:55254681:G:A p.(Arg389Cys) NC_000018.10:55254681:G:A Identity +NM_000720.4:c.3742G>C NP_000711.1:p.Glu1248Gln NC_000003.12:53753577:G:C p.(Glu1248Gln) NC_000003.12:53753577:G:C p.(Glu1248Gln) NC_000003.12:53753577:G:C Identity +NM_001204425.2:c.4766A>T NP_001191354.2:p.Glu1589Val NC_000013.11:102875745:A:T p.(Glu1589Val) NC_000013.11:102875745:A:T p.(Glu1589Val) NC_000013.11:102875745:A:T Identity +NM_001305424.2:c.2846C>T NP_001292353.1:p.Pro949Leu NC_000001.11:240207645:C:T p.(Pro949Leu) NC_000001.11:240207645:C:T p.(Pro949Leu) NC_000001.11:240207645:C:T Identity +NM_001353345.2:c.3587T>A NP_001340274.1:p.Val1196Glu NC_000012.12:121819571:T:A p.(Val1196Glu) NC_000012.12:121819571:T:A p.(Val1196Glu) NC_000012.12:121819571:T:A Identity +NM_001350748.2:c.1658A>G NP_001337677.1:p.Gln553Arg NC_000013.11:101192022:T:C p.(Gln553Arg) NC_000013.11:101192022:T:C p.(Gln553Arg) NC_000013.11:101192022:T:C Identity +NM_006593.4:c.1155C>A NP_006584.1:p.Asn385Lys NC_000002.12:161420221:C:A p.(Asn385Lys) NC_000002.12:161420221:C:A p.(Asn385Lys) NC_000002.12:161420221:C:A Identity +NM_001322194.2:c.980G>T NP_001309123.1:p.Ser327Ile NC_000009.12:5055711:G:T p.(Ser327Ile) NC_000009.12:5055711:G:T p.(Ser327Ile) NC_000009.12:5055711:G:T Identity +NM_006231.4:c.2710G>C NP_006222.2:p.Gly904Arg NC_000012.12:132661680:C:G p.(Gly904Arg) NC_000012.12:132661680:C:G p.(Gly904Arg) NC_000012.12:132661680:C:G Identity +NM_001195733.2:c.554T>G NP_001182662.1:p.Phe185Cys NC_000019.10:3656471:A:C p.(Phe185Cys) NC_000019.10:3656471:A:C p.(Phe185Cys) NC_000019.10:3656471:A:C Identity +NM_001254740.2:c.929C>G NP_001241669.1:p.Ser310Ter NC_000015.10:65652705:C:G p.(Ser310Ter) NC_000015.10:65652705:C:G p.(Ser310Ter) NC_000015.10:65652705:C:G Identity +NM_000135.4:c.917C>T NP_000126.2:p.Thr306Met NC_000016.10:89795994:G:A p.(Thr306Met) NC_000016.10:89795994:G:A p.(Thr306Met) NC_000016.10:89795994:G:A Identity +NM_000388.4:c.325G>A NP_000379.3:p.Glu109Lys NC_000003.12:122257219:G:A p.(Glu109Lys) NC_000003.12:122257219:G:A p.(Glu109Lys) NC_000003.12:122257219:G:A Identity +NM_001164317.2:c.1486G>T NP_001157789.1:p.Gly496Cys NC_000003.12:58103960:G:T p.(Gly496Cys) NC_000003.12:58103960:G:T p.(Gly496Cys) NC_000003.12:58103960:G:T Identity +NM_001283009.2:c.1405C>A NP_001269938.1:p.Arg469Ser NC_000020.11:63687693:C:A p.(Arg469Ser) NC_000020.11:63687693:C:A p.(Arg469Ser) NC_000020.11:63687693:C:A Identity +NM_001048171.2:c.566G>T NP_001041636.2:p.Arg189Leu NC_000001.11:45332613:C:A p.(Arg189Leu) NC_000001.11:45332613:C:A p.(Arg189Leu) NC_000001.11:45332613:C:A Identity +NM_001007026.2:c.1494G>T NP_001007027.1:p.Gln498His NC_000012.12:6936760:G:T p.(Gln498His) NC_000012.12:6936760:G:T p.(Gln498His) NC_000012.12:6936760:G:T Identity +NM_001135599.4:c.119T>A NP_001129071.1:p.Ile40Asn NC_000001.11:218346819:T:A p.(Ile40Asn) NC_000001.11:218346819:T:A p.(Ile40Asn) NC_000001.11:218346819:T:A Identity +NM_000070.3:c.452A>G NP_000061.1:p.His151Arg NC_000015.10:42386238:A:G p.(His151Arg) NC_000015.10:42386238:A:G p.(His151Arg) NC_000015.10:42386238:A:G Identity +NM_001282142.2:c.254A>G NP_001269071.1:p.His85Arg NC_000023.11:49038407:T:C p.(His85Arg) NC_000023.11:49038407:T:C p.(His85Arg) NC_000023.11:49038407:T:C Identity +NM_138694.4:c.7658A>G NP_619639.3:p.Asn2553Ser NC_000006.12:51867937:T:C p.(Asn2553Ser) NC_000006.12:51867937:T:C p.(Asn2553Ser) NC_000006.12:51867937:T:C Identity +NM_000138.5:c.2465A>G NP_000129.3:p.Lys822Arg NC_000015.10:48495542:T:C p.(Lys822Arg) NC_000015.10:48495542:T:C p.(Lys822Arg) NC_000015.10:48495542:T:C Identity +NM_001284214.2:c.3488C>T NP_001271143.1:p.Pro1163Leu NC_000002.12:229797744:G:A p.(Pro1163Leu) NC_000002.12:229797744:G:A p.(Pro1163Leu) NC_000002.12:229797744:G:A Identity +NM_006015.6:c.2732G>A NP_006006.3:p.Arg911Lys NC_000001.11:26763284:G:A p.(Arg911Lys) NC_000001.11:26763284:G:A p.(Arg911Lys) NC_000001.11:26763284:G:A Identity +NM_001278064.2:c.2641G>A NP_001264993.1:p.Ala881Thr NC_000006.12:146399679:G:A p.(Ala881Thr) NC_000006.12:146399679:G:A p.(Ala881Thr) NC_000006.12:146399679:G:A Identity +NM_001367624.2:c.1877C>G NP_001354553.1:p.Pro626Arg NC_000016.10:88429346:C:G p.(Pro626Arg) NC_000016.10:88429346:C:G p.(Pro626Arg) NC_000016.10:88429346:C:G Identity +NM_001308133.2:c.2119C>G NP_001295062.1:p.Leu707Val NC_000014.9:45173090:C:G p.(Leu707Val) NC_000014.9:45173090:C:G p.(Leu707Val) NC_000014.9:45173090:C:G Identity +NM_001308133.2:c.1381G>A NP_001295062.1:p.Asp461Asn NC_000014.9:45159157:G:A p.(Asp461Asn) NC_000014.9:45159157:G:A p.(Asp461Asn) NC_000014.9:45159157:G:A Identity +NM_001190274.2:c.544G>A NP_001177203.1:p.Val182Ile NC_000002.12:47838901:C:T p.(Val182Ile) NC_000002.12:47838901:C:T p.(Val182Ile) NC_000002.12:47838901:C:T Identity +NM_000356.4:c.1670C>T NP_000347.2:p.Pro557Leu NC_000005.10:150376088:C:T p.(Pro557Leu) NC_000005.10:150376088:C:T p.(Pro557Leu) NC_000005.10:150376088:C:T Identity +NM_001267722.2:c.1205A>C NP_001254651.1:p.Lys402Thr NC_000004.12:56490399:A:C p.(Lys402Thr) NC_000004.12:56490399:A:C p.(Lys402Thr) NC_000004.12:56490399:A:C Identity +NM_003482.4:c.8102G>A NP_003473.3:p.Arg2701Gln NC_000012.12:49039561:C:T p.(Arg2701Gln) NC_000012.12:49039561:C:T p.(Arg2701Gln) NC_000012.12:49039561:C:T Identity +NM_000248.4:c.497C>A NP_000239.1:p.Pro166Gln NC_000003.12:69949105:C:A p.(Pro166Gln) NC_000003.12:69949105:C:A p.(Pro166Gln) NC_000003.12:69949105:C:A Identity +NM_014704.4:c.1570C>T NP_055519.1:p.His524Tyr NC_000001.11:3833950:G:A p.(His524Tyr) NC_000001.11:3833950:G:A p.(His524Tyr) NC_000001.11:3833950:G:A Identity +NM_001278649.3:c.112A>T NP_001265578.1:p.Met38Leu NC_000020.11:62272253:A:T p.(Met38Leu) NC_000020.11:62272253:A:T p.(Met38Leu) NC_000020.11:62272253:A:T Identity +NM_016239.4:c.5699A>G NP_057323.3:p.His1900Arg NC_000017.11:18142127:A:G p.(His1900Arg) NC_000017.11:18142127:A:G p.(His1900Arg) NC_000017.11:18142127:A:G Identity +NM_006734.4:c.3762C>G NP_006725.3:p.Ser1254Arg NC_000006.12:142770976:G:C p.(Ser1254Arg) NC_000006.12:142770976:G:C p.(Ser1254Arg) NC_000006.12:142770976:G:C Identity +NM_001039590.3:c.3707T>G NP_001034679.2:p.Ile1236Ser NC_000023.11:41188013:T:G p.(Ile1236Ser) NC_000023.11:41188013:T:G p.(Ile1236Ser) NC_000023.11:41188013:T:G Identity +NM_004523.4:c.2831G>A NP_004514.2:p.Arg944His NC_000010.11:92649894:G:A p.(Arg944His) NC_000010.11:92649894:G:A p.(Arg944His) NC_000010.11:92649894:G:A Identity +NM_001256213.2:c.2005A>G NP_001243142.1:p.Thr669Ala NC_000019.10:41976537:T:C p.(Thr669Ala) NC_000019.10:41976537:T:C p.(Thr669Ala) NC_000019.10:41976537:T:C Identity +NM_000391.4:c.1319G>C NP_000382.3:p.Ser440Thr NC_000011.10:6615276:C:G p.(Ser440Thr) NC_000011.10:6615276:C:G p.(Ser440Thr) NC_000011.10:6615276:C:G Identity +NM_001112741.2:c.946G>A NP_001106212.1:p.Val316Met NC_000011.10:17772039:G:A p.(Val316Met) NC_000011.10:17772039:G:A p.(Val316Met) NC_000011.10:17772039:G:A Identity +NM_001105077.4:c.2202C>A NP_001098547.3:p.His734Gln NC_000003.12:169112792:G:T p.(His734Gln) NC_000003.12:169112792:G:T p.(His734Gln) NC_000003.12:169112792:G:T Identity +NM_001199107.2:c.913A>G NP_001186036.1:p.Met305Val NC_000016.10:2497060:A:G p.(Met305Val) NC_000016.10:2497060:A:G p.(Met305Val) NC_000016.10:2497060:A:G Identity +NM_020433.5:c.1414_1415delinsGG NP_065166.2:p.Leu472Gly NC_000020.11:44116259:AG:CC p.(Leu472Gly) NC_000020.11:44116259:AG:CC p.(Leu472Gly) NC_000020.11:44116259:AG:CC Identity +NM_001312692.1:c.963CAT[1] NP_001299621.1:p.Ile323del NC_000001.11:39844120:ATGATGAT:ATGAT p.(Ile323del) NC_000001.11:39844125:G:ATG ERR:Parse ERR:Parse Identity +NM_001042494.2:c.1145G>A NP_001035959.1:p.Gly382Asp NC_000015.10:34252180:C:T p.(Gly382Asp) NC_000015.10:34252180:C:T p.(Gly382Asp) NC_000015.10:34252180:C:T Identity +NM_001257291.2:c.1898C>T NP_001244220.1:p.Ala633Val NC_000023.11:46613319:G:A p.(Ala633Val) NC_000023.11:46613319:G:A p.(Ala633Val) NC_000023.11:46613319:G:A Identity +NM_001145853.1:c.2581G>A NP_001139325.1:p.Val861Met NC_000004.12:6302375:G:A p.(Val861Met) NC_000004.12:6302375:G:A p.(Val861Met) NC_000004.12:6302375:G:A Identity +NM_001366177.2:c.4313A>G NP_001353106.1:p.Lys1438Arg NC_000001.11:155478556:T:C p.(Lys1438Arg) NC_000001.11:155478556:T:C p.(Lys1438Arg) NC_000001.11:155478556:T:C Identity +NM_001378328.1:c.4436T>A NP_001365257.1:p.Leu1479His NC_000022.11:46436259:A:T p.(Leu1479His) NC_000022.11:46436259:A:T p.(Leu1479His) NC_000022.11:46436259:A:T Identity +NM_001079855.2:c.61G>A NP_001073324.1:p.Ala21Thr NC_000023.11:2843265:G:A p.(Ala21Thr) NC_000023.11:2843265:G:A p.(Ala21Thr) NC_000023.11:2843265:G:A Identity +NM_001198989.2:c.1199G>A NP_001185918.1:p.Ser400Asn NC_000020.11:35669643:C:T p.(Ser400Asn) NC_000020.11:35669643:C:T p.(Ser400Asn) NC_000020.11:35669643:C:T Identity +NM_033109.5:c.251C>T NP_149100.2:p.Ala84Val NC_000002.12:55686415:G:A p.(Ala84Val) NC_000002.12:55686415:G:A p.(Ala84Val) NC_000002.12:55686415:G:A Identity +NM_001321309.2:c.3868A>G NP_001308238.1:p.Ile1290Val NC_000003.12:123648989:T:C p.(Ile1290Val) NC_000003.12:123648989:T:C p.(Ile1290Val) NC_000003.12:123648989:T:C Identity +NM_000257.4:c.3136A>C NP_000248.2:p.Met1046Leu NC_000014.9:23422288:T:G p.(Met1046Leu) NC_000014.9:23422288:T:G p.(Met1046Leu) NC_000014.9:23422288:T:G Identity +NM_138395.4:c.1721G>T NP_612404.1:p.Gly574Val NC_000002.12:197707125:G:T p.(Gly574Val) NC_000002.12:197707125:G:T p.(Gly574Val) NC_000002.12:197707125:G:T Identity +NM_004370.6:c.6048C>A NP_004361.3:p.Ser2016Arg NC_000006.12:75130870:G:T p.(Ser2016Arg) NC_000006.12:75130870:G:T p.(Ser2016Arg) NC_000006.12:75130870:G:T Identity +NM_001256071.3:c.9712G>A NP_001243000.2:p.Gly3238Ser NC_000017.11:80348046:G:A p.(Gly3238Ser) NC_000017.11:80348046:G:A p.(Gly3238Ser) NC_000017.11:80348046:G:A Identity +NM_001040142.2:c.3032A>C NP_001035232.1:p.Gln1011Pro NC_000002.12:165354303:A:C p.(Gln1011Pro) NC_000002.12:165354303:A:C p.(Gln1011Pro) NC_000002.12:165354303:A:C Identity +NM_001080463.2:c.11042A>G NP_001073932.1:p.Gln3681Arg NC_000011.10:103286384:A:G p.(Gln3681Arg) NC_000011.10:103286384:A:G p.(Gln3681Arg) NC_000011.10:103286384:A:G Identity +NM_001035.3:c.12278A>G NP_001026.2:p.Asp4093Gly NC_000001.11:237783989:A:G p.(Asp4093Gly) NC_000001.11:237783989:A:G p.(Asp4093Gly) NC_000001.11:237783989:A:G Identity +NM_000489.6:c.7084A>G NP_000480.3:p.Met2362Val NC_000023.11:77520903:T:C p.(Met2362Val) NC_000023.11:77520903:T:C p.(Met2362Val) NC_000023.11:77520903:T:C Identity +NM_001177428.1:c.1672A>C NP_001170899.1:p.Met558Leu NC_000012.12:109792662:T:G p.(Met558Leu) NC_000012.12:109792662:T:G p.(Met558Leu) NC_000012.12:109792662:T:G Identity +NM_001304482.2:c.4412_4415dup NP_001291411.1:p.Arg1473fs NC_000003.12:47413061:CAAACA:CAAACAAACA p.(Arg1473ThrfsTer7) NC_000003.12:47413061:CAAACA:CAAACAAACA p.(Arg1473ThrfsTer7) ERR:SPDI Analogous +NM_000489.6:c.6920C>T NP_000480.3:p.Pro2307Leu NC_000023.11:77522317:G:A p.(Pro2307Leu) NC_000023.11:77522317:G:A p.(Pro2307Leu) NC_000023.11:77522317:G:A Identity +NM_001271096.2:c.68C>T NP_001258025.1:p.Ala23Val NC_000008.11:143824352:G:A p.(Ala23Val) NC_000008.11:143824352:G:A p.(Ala23Val) NC_000008.11:143824352:G:A Identity +NM_000451.4:c.431C>A NP_000442.1:p.Ala144Asp NC_000024.10:634770:C:A p.(Ala144Asp) NC_000023.11:634770:C:A p.(Ala144Asp) ERR:CDS is undefined for NM_000451.4; this accession appears to be for a non-coding transcript Identity +NM_000204.5:c.1015C>T NP_000195.3:p.Arg339Ter NC_000004.12:109749527:G:A p.(Arg339Ter) NC_000004.12:109749527:G:A p.(Arg339Ter) NC_000004.12:109749527:G:A Identity +NM_000179.3:c.1648T>G NP_000170.1:p.Ser550Ala NC_000002.12:47799630:T:G p.(Ser550Ala) NC_000002.12:47799630:T:G p.(Ser550Ala) NC_000002.12:47799630:T:G Identity +NM_001018037.2:c.7678A>G NP_001018047.1:p.Thr2560Ala NC_000009.12:77356855:A:G p.(Thr2560Ala) NC_000009.12:77356855:A:G p.(Thr2560Ala) NC_000009.12:77356855:A:G Identity +NM_012414.4:c.3862G>T NP_036546.2:p.Glu1288Ter NC_000001.11:220153189:C:A p.(Glu1288Ter) NC_000001.11:220153189:C:A p.(Glu1288Ter) NC_000001.11:220153189:C:A Identity +NM_006593.4:c.231C>A NP_006584.1:p.Asp77Glu NC_000002.12:161416640:C:A p.(Asp77Glu) NC_000002.12:161416640:C:A p.(Asp77Glu) NC_000002.12:161416640:C:A Identity +NM_005431.2:c.817G>A NP_005422.1:p.Gly273Arg NC_000007.14:152648667:C:T p.(Gly273Arg) NC_000007.14:152648667:C:T p.(Gly273Arg) NC_000007.14:152648667:C:T Identity +NM_001289396.2:c.1333C>T NP_001276325.1:p.Arg445Cys NC_000009.12:2056830:C:T p.(Arg445Cys) NC_000009.12:2056830:C:T p.(Arg445Cys) NC_000009.12:2056830:C:T Identity +NM_001193329.3:c.777G>A NP_001180258.1:p.Trp259Ter NC_000009.12:94760559:G:A p.(Trp259Ter) NC_000009.12:94760559:G:A p.(Trp259Ter) NC_000009.12:94760559:G:A Identity +NM_001349370.3:c.6580_6586del NP_001336299.1:p.Ser2194fs NC_000003.12:47057065:ACTGGGAACTGG:ACTGG p.(Ser2194MetfsTer8) NC_000003.12:47057065:ACTGGGAACTGG:ACTGG p.(Ser2194MetfsTer8) NC_000003.12:47057065:ACTGGGA: Analogous +NM_001271427.2:c.2T>G NP_001258356.1:p.Met1Arg NC_000001.11:19251507:A:C p.(Met1Arg) NC_000001.11:19251507:A:C p.Met1? NC_000001.11:19251507:A:C Identity +NM_001362843.2:c.5415G>C NP_001349772.1:p.Arg1805Ser NC_000022.11:41177203:G:C p.(Arg1805Ser) NC_000022.11:41177203:G:C p.(Arg1805Ser) NC_000022.11:41177203:G:C Identity +NM_001278463.2:c.1227_1228del NP_001265392.1:p.Glu410fs NC_000012.12:32731381:TG: p.(Glu410GlyfsTer4) NC_000012.12:32731381:TG: p.(Glu410GlyfsTer4) NC_000012.12:32731381:TG: Analogous +NM_001844.5:c.1937dup NP_001835.3:p.Ala647fs NC_000012.12:47984090:GGG:GGGG p.(Ala647CysfsTer6) NC_000012.12:47984090:GGG:GGGG p.(Ala647CysfsTer6) ERR:SPDI Analogous +NM_001376.5:c.7145_7148dup NP_001367.2:p.Ser2384fs NC_000014.9:102015234:TGCG:TGCGTGCG p.(Ser2384AlafsTer7) NC_000014.9:102015234:TGCG:TGCGTGCG p.(Ser2384AlafsTer7) ERR:SPDI Analogous +NM_000535.7:c.143A>G NP_000526.2:p.Asp48Gly NC_000007.14:6005911:T:C p.(Asp48Gly) NC_000007.14:6005911:T:C p.(Asp48Gly) NC_000007.14:6005911:T:C Identity +NM_001204402.2:c.29G>A NP_001191331.1:p.Arg10Gln NC_000023.11:107645286:G:A p.(Arg10Gln) NC_000023.11:107645286:G:A p.(Arg10Gln) NC_000023.11:107645286:G:A Identity +NM_000089.4:c.1844_1850del NP_000080.2:p.Pro615fs NC_000007.14:94416481:CCCAGGGCC:CC p.(Pro615LeufsTer65) NC_000007.14:94416481:CCCAGGGCC:CC p.(Pro615LeufsTer65) NC_000007.14:94416483:CAGGGCC: Analogous +NM_006147.4:c.251G>C NP_006138.1:p.Arg84Pro NC_000001.11:209796475:C:G p.(Arg84Pro) NC_000001.11:209796475:C:G p.(Arg84Pro) NC_000001.11:209796475:C:G Identity +NM_005859.5:c.563_578del NP_005850.1:p.Ile188fs NC_000005.10:140114741:CATTGCGCTGCCCGCGCA:CA p.(Ile188ArgfsTer32) NC_000005.10:140114741:CATTGCGCTGCCCGCGCA:CA p.(Ile188ArgfsTer32) NC_000005.10:140114743:TTGCGCTGCCCGCGCA: Analogous +NM_000179.3:c.1975C>T NP_000170.1:p.Leu659Phe NC_000002.12:47799957:C:T p.(Leu659Phe) NC_000002.12:47799957:C:T p.(Leu659Phe) NC_000002.12:47799957:C:T Identity +NM_001377291.1:c.194T>C NP_001364220.1:p.Val65Ala NC_000006.12:70300147:A:G p.(Val65Ala) NC_000006.12:70300147:A:G p.(Val65Ala) NC_000006.12:70300147:A:G Identity +NM_207303.4:c.2966G>A NP_997186.1:p.Ser989Asn NC_000010.11:115315664:G:A p.(Ser989Asn) NC_000010.11:115315664:G:A p.(Ser989Asn) NC_000010.11:115315664:G:A Identity +NM_001035.3:c.14222C>T NP_001026.2:p.Ala4741Val NC_000001.11:237806206:C:T p.(Ala4741Val) NC_000001.11:237806206:C:T p.(Ala4741Val) NC_000001.11:237806206:C:T Identity +NM_001008537.3:c.2582G>A NP_001008537.1:p.Cys861Tyr NC_000023.11:74741974:C:T p.(Cys861Tyr) NC_000023.11:74741974:C:T p.(Cys861Tyr) NC_000023.11:74741974:C:T Identity +NM_001302959.2:c.668A>G NP_001289888.1:p.Gln223Arg NC_000011.10:67490844:A:G p.(Gln223Arg) NC_000011.10:67490844:A:G p.(Gln223Arg) NC_000011.10:67490844:A:G Identity +NM_001103.4:c.394_395delinsCT NP_001094.1:p.Gly132Leu NC_000001.11:236720136:GG:CT p.(Gly132Leu) NC_000001.11:236720136:GG:CT p.(Gly132Leu) NC_000001.11:236720136:GG:CT Identity +NM_001318324.2:c.1928A>G NP_001305253.1:p.Gln643Arg NC_000009.12:131147501:A:G p.(Gln643Arg) NC_000009.12:131147501:A:G p.(Gln643Arg) NC_000009.12:131147501:A:G Identity +NM_001291997.2:c.77A>C NP_001278926.1:p.Glu26Ala NC_000016.10:78164188:A:C p.(Glu26Ala) NC_000016.10:78164188:A:C p.(Glu26Ala) NC_000016.10:78164188:A:C Identity +NM_000245.4:c.866A>C NP_000236.2:p.His289Pro NC_000007.14:116699949:A:C p.(His289Pro) NC_000007.14:116699949:A:C p.(His289Pro) NC_000007.14:116699949:A:C Identity +NM_006950.3:c.1787G>T NP_008881.2:p.Gly596Val NC_000023.11:47574196:C:A p.(Gly596Val) NC_000023.11:47574196:C:A p.(Gly596Val) NC_000023.11:47574196:C:A Identity +NM_001177316.2:c.458T>C NP_001170787.2:p.Val153Ala NC_000009.12:137233012:T:C p.(Val153Ala) NC_000009.12:137233012:T:C p.(Val153Ala) NC_000009.12:137233012:T:C Identity +NM_001040113.2:c.2725C>G NP_001035202.1:p.Leu909Val NC_000016.10:15741617:G:C p.(Leu909Val) NC_000016.10:15741617:G:C p.(Leu909Val) NC_000016.10:15741617:G:C Identity +NM_001362836.2:c.1934G>A NP_001349765.1:p.Arg645Gln NC_000008.11:105802174:G:A p.(Arg645Gln) NC_000008.11:105802174:G:A p.(Arg645Gln) NC_000008.11:105802174:G:A Identity +NM_001316772.1:c.1333C>T NP_001303701.1:p.Pro445Ser NC_000007.14:30622343:C:T p.(Pro445Ser) NC_000007.14:30622343:C:T p.(Pro445Ser) NC_000007.14:30622343:C:T Identity +NM_004656.4:c.1883C>T NP_004647.1:p.Ser628Leu NC_000003.12:52403144:G:A p.(Ser628Leu) NC_000003.12:52403144:G:A p.(Ser628Leu) NC_000003.12:52403144:G:A Identity +NM_001145853.1:c.1774C>G NP_001139325.1:p.Leu592Val NC_000004.12:6301568:C:G p.(Leu592Val) NC_000004.12:6301568:C:G p.(Leu592Val) NC_000004.12:6301568:C:G Identity +NM_001303496.3:c.3008G>C NP_001290425.1:p.Ser1003Thr NC_000007.14:93132963:C:G p.(Ser1003Thr) NC_000007.14:93132963:C:G p.(Ser1003Thr) NC_000007.14:93132963:C:G Identity +NM_000245.4:c.3128C>A NP_000236.2:p.Ser1043Tyr NC_000007.14:116774979:C:A p.(Ser1043Tyr) NC_000007.14:116774979:C:A p.(Ser1043Tyr) NC_000007.14:116774979:C:A Identity +NM_001127493.3:c.3271G>A NP_001120965.1:p.Glu1091Lys NC_000004.12:113333126:G:A p.(Glu1091Lys) NC_000004.12:113333126:G:A p.(Glu1091Lys) NC_000004.12:113333126:G:A Identity +NM_000179.3:c.2934G>T NP_000170.1:p.Gln978His NC_000002.12:47800916:G:T p.(Gln978His) NC_000002.12:47800916:G:T p.(Gln978His) NC_000002.12:47800916:G:T Identity +NM_001103.4:c.1009G>A NP_001094.1:p.Glu337Lys NC_000001.11:236739433:G:A p.(Glu337Lys) NC_000001.11:236739433:G:A p.(Glu337Lys) NC_000001.11:236739433:G:A Identity +NM_138395.4:c.1241G>T NP_612404.1:p.Arg414Ile NC_000002.12:197706645:G:T p.(Arg414Ile) NC_000002.12:197706645:G:T p.(Arg414Ile) NC_000002.12:197706645:G:T Identity +NM_002943.4:c.1430C>T NP_002934.1:p.Ala477Val NC_000015.10:60499943:G:A p.(Ala477Val) NC_000015.10:60499943:G:A p.(Ala477Val) NC_000015.10:60499943:G:A Identity +NM_006178.4:c.1359G>A NP_006169.2:p.Met453Ile NC_000017.11:46694646:G:A p.(Met453Ile) NC_000017.11:46694646:G:A p.(Met453Ile) NC_000017.11:46694646:G:A Identity +NM_000059.4:c.9565C>T NP_000050.3:p.Pro3189Ser NC_000013.11:32396960:C:T p.(Pro3189Ser) NC_000013.11:32396960:C:T p.(Pro3189Ser) NC_000013.11:32396960:C:T Identity +NM_001321148.2:c.2932G>A NP_001308077.1:p.Val978Met NC_000017.11:75495600:G:A p.(Val978Met) NC_000017.11:75495600:G:A p.(Val978Met) NC_000017.11:75495600:G:A Identity +NM_000388.4:c.1802A>G NP_000379.3:p.Lys601Arg NC_000003.12:122283755:A:G p.(Lys601Arg) NC_000003.12:122283755:A:G p.(Lys601Arg) NC_000003.12:122283755:A:G Identity +NM_001303245.3:c.2228C>T NP_001290174.1:p.Ala743Val NC_000003.12:141608696:C:T p.(Ala743Val) NC_000003.12:141608696:C:T p.(Ala743Val) NC_000003.12:141608696:C:T Identity +NM_001256213.2:c.908T>G NP_001243142.1:p.Leu303Arg NC_000019.10:41985035:A:C p.(Leu303Arg) NC_000019.10:41985035:A:C p.(Leu303Arg) NC_000019.10:41985035:A:C Identity +NM_000527.5:c.1980G>C NP_000518.1:p.Gln660His NC_000019.10:11120225:G:C p.(Gln660His) NC_000019.10:11120225:G:C p.(Gln660His) NC_000019.10:11120225:G:C Identity +NM_001165963.4:c.807C>A NP_001159435.1:p.Phe269Leu NC_000002.12:166051875:G:T p.(Phe269Leu) NC_000002.12:166051875:G:T p.(Phe269Leu) NC_000002.12:166051875:G:T Identity +NM_001162501.2:c.933G>A NP_001155973.1:p.Trp311Ter NC_000022.11:40265162:G:A p.(Trp311Ter) NC_000022.11:40265162:G:A p.(Trp311Ter) NC_000022.11:40265162:G:A Identity +NM_001346432.2:c.214A>G NP_001333361.1:p.Ile72Val NC_000011.10:27392489:T:C p.(Ile72Val) NC_000011.10:27392489:T:C p.(Ile72Val) NC_000011.10:27392489:T:C Identity +NM_000284.4:c.499G>C NP_000275.1:p.Val167Leu NC_000023.11:19353161:G:C p.(Val167Leu) NC_000023.11:19353161:G:C p.(Val167Leu) NC_000023.11:19353161:G:C Identity +NM_005121.3:c.1036dup NP_005112.2:p.Val346fs NC_000017.11:62029986:CCC:CCCC p.(Val346GlyfsTer8) NC_000017.11:62029986:CCC:CCCC p.(Val346GlyfsTer8) ERR:SPDI Analogous +NM_000388.4:c.1A>G NP_000379.3:p.Met1Val NC_000003.12:122254189:A:G p.(Met1Val) NC_000003.12:122254189:A:G p.Met1? NC_000003.12:122254189:A:G Identity +NM_001039375.3:c.520C>T NP_001034464.1:p.Gln174Ter NC_000020.11:13801569:C:T p.(Gln174Ter) NC_000020.11:13801569:C:T p.(Gln174Ter) NC_000020.11:13801569:C:T Identity +NM_001281504.2:c.650A>G NP_001268433.1:p.Tyr217Cys NC_000019.10:10548906:A:G p.(Tyr217Cys) NC_000019.10:10548906:A:G p.(Tyr217Cys) NC_000019.10:10548906:A:G Identity +NM_001001547.3:c.729C>A NP_001001547.1:p.Cys243Ter NC_000007.14:80666469:C:A p.(Cys243Ter) NC_000007.14:80666469:C:A p.(Cys243Ter) NC_000007.14:80666469:C:A Identity +NM_007192.4:c.2515G>A NP_009123.1:p.Glu839Lys NC_000014.9:21357341:C:T p.(Glu839Lys) NC_000014.9:21357341:C:T p.(Glu839Lys) NC_000014.9:21357341:C:T Identity +NM_001145811.2:c.1812G>C NP_001139283.1:p.Trp604Cys NC_000011.10:15989069:C:G p.(Trp604Cys) NC_000011.10:15989069:C:G p.(Trp604Cys) NC_000011.10:15989069:C:G Identity +NM_000033.4:c.9_13del NP_000024.2:p.Leu4fs NC_000023.11:153725273:TGCTCT:T p.(Leu4GlnfsTer189) NC_000023.11:153725273:TGCTCT:T p.(Leu4GlnfsTer189) NC_000023.11:153725274:GCTCT: Analogous +NM_000109.4:c.6262C>T NP_000100.3:p.Gln2088Ter NC_000023.11:32287532:G:A p.(Gln2088Ter) NC_000023.11:32287532:G:A p.(Gln2088Ter) NC_000023.11:32287532:G:A Identity +NM_000109.4:c.7561G>T NP_000100.3:p.Glu2521Ter NC_000023.11:31729705:C:A p.(Glu2521Ter) NC_000023.11:31729705:C:A p.(Glu2521Ter) NC_000023.11:31729705:C:A Identity +NM_001018115.3:c.230del NP_001018125.1:p.Lys77fs NC_000003.12:10034489:AAAA:AAA p.(Lys77ArgfsTer7) NC_000003.12:10034489:AAAA:AAA p.(Lys77ArgfsTer7) NC_000003.12:10034492:A: Analogous +NM_004750.5:c.31_53del NP_004741.1:p.Gln11fs NC_000019.10:18606603:GGCGGCGGCCGCCGCGCGGATTGGGCGGCGG:GGCGGCGG p.(Gln11ValfsTer68) NC_000019.10:18606603:GGCGGCGGCCGCCGCGCGGATTGGGCGGCGG:GGCGGCGG p.(Gln11ValfsTer68) NC_000019.10:18606603:GGCGGCGGCCGCCGCGCGGATTG: Analogous +NM_001042472.3:c.1015C>T NP_001035937.1:p.Gln339Ter NC_000020.11:25303563:G:A p.(Gln339Ter) NC_000020.11:25303563:G:A p.(Gln339Ter) NC_000020.11:25303563:G:A Identity +NM_000152.5:c.2623C>T NP_000143.2:p.Gln875Ter NC_000017.11:80118333:C:T p.(Gln875Ter) NC_000017.11:80118333:C:T p.(Gln875Ter) NC_000017.11:80118333:C:T Identity +NM_001367830.1:c.5888_5895del NP_001354759.1:p.Lys1963fs NC_000019.10:11200950:TAGCATCTTAGCATCT:TAGCATCT p.(Lys1963ThrfsTer52) NC_000019.10:11200950:TAGCATCTTAGCATCT:TAGCATCT p.(Lys1963ThrfsTer52) NC_000019.10:11200950:TAGCATCT: Analogous +NM_000203.5:c.965del NP_000194.2:p.Val322fs NC_000004.12:1002153:T: p.(Val322GlyfsTer2) NC_000004.12:1002153:T: p.(Val322GlyfsTer2) NC_000004.12:1002153:T: Analogous +NM_000191.3:c.621del NP_000182.2:p.Val208fs NC_000001.11:23808263:A: p.(Val208TrpfsTer7) NC_000001.11:23808263:A: p.(Val208TrpfsTer7) NC_000001.11:23808263:A: Analogous +NM_000250.2:c.403C>T NP_000241.1:p.Arg135Ter NC_000017.11:58279859:G:A p.(Arg135Ter) NC_000017.11:58279859:G:A p.(Arg135Ter) NC_000017.11:58279859:G:A Identity +NM_000823.4:c.1069C>T NP_000814.2:p.Arg357Cys NC_000007.14:30976522:C:T p.(Arg357Cys) NC_000007.14:30976522:C:T p.(Arg357Cys) NC_000007.14:30976522:C:T Identity +NM_015909.4:c.1858A>T NP_056993.2:p.Lys620Ter NC_000002.12:15468400:T:A p.(Lys620Ter) NC_000002.12:15468400:T:A p.(Lys620Ter) NC_000002.12:15468400:T:A Identity +NM_000384.3:c.4991del NP_000375.3:p.Leu1664fs NC_000002.12:21011876:A: p.(Leu1664ProfsTer8) NC_000002.12:21011876:A: p.(Leu1664ProfsTer8) NC_000002.12:21011876:A: Analogous +NM_000532.5:c.1142dup NP_000523.2:p.Cys381fs NC_000003.12:136326853:G:GG p.(Cys381TrpfsTer2) NC_000003.12:136326853:G:GG p.(Cys381TrpfsTer2) ERR:SPDI Analogous +NM_000439.5:c.958dup NP_000430.3:p.Asp320fs NC_000005.10:96410910:C:CC p.(Asp320GlyfsTer26) NC_000005.10:96410910:C:CC p.(Asp320GlyfsTer26) ERR:SPDI Analogous +NM_001374321.1:c.1119del NP_001361250.1:p.Ala374fs NC_000008.11:100213110:CC:C p.(Ala374ArgfsTer16) NC_000008.11:100213110:CC:C p.(Ala374ArgfsTer16) NC_000008.11:100213111:C: Analogous +NM_021942.6:c.2579del NP_068761.4:p.Leu860fs NC_000004.12:183694673:T: p.(Leu860ArgfsTer2) NC_000004.12:183694673:T: p.(Leu860ArgfsTer2) NC_000004.12:183694673:T: Analogous +NM_000383.4:c.1406del NP_000374.1:p.Gly469fs NC_000021.9:44294403:GGG:GG p.(Gly469AlafsTer11) NC_000021.9:44294403:GGG:GG p.(Gly469AlafsTer11) NC_000021.9:44294405:G: Analogous +NM_139242.4:c.13_23dup NP_640335.2:p.Cys8fs NC_000015.10:65029590:CAGCGCCGCACCA:CAGCGCCGCACCAGCGCCGCACCA p.(Cys8TrpfsTer74) NC_000015.10:65029590:CAGCGCCGCACCA:CAGCGCCGCACCAGCGCCGCACCA p.(Cys8TrpfsTer74) ERR:SPDI Analogous +NM_000935.3:c.67del NP_000926.2:p.Cys23fs NC_000003.12:146160922:A: p.(Cys23ValfsTer18) NC_000003.12:146160922:A: p.(Cys23ValfsTer18) NC_000003.12:146160922:A: Analogous +NM_025114.4:c.6919_6920dup NP_079390.3:p.Gln2308fs NC_000012.12:88055615:TCTCTCTCT:TCTCTCTCTCT p.(Gln2308AsnfsTer40) NC_000012.12:88055615:TCTCTCTCT:TCTCTCTCTCT p.(Gln2308AsnfsTer40) ERR:SPDI Analogous +NM_001723.7:c.3748C>T NP_001714.1:p.Arg1250Ter NC_000006.12:56620285:G:A p.(Arg1250Ter) NC_000006.12:56620285:G:A p.(Arg1250Ter) NC_000006.12:56620285:G:A Identity +NM_033071.5:c.5615_5618del NP_149062.2:p.Leu1872fs NC_000006.12:152416839:GCAAGC:GC p.(Leu1872ProfsTer22) NC_000006.12:152416839:GCAAGC:GC p.(Leu1872ProfsTer22) NC_000006.12:152416839:GCAA: Analogous +NM_000033.4:c.121del NP_000024.2:p.Ala41fs NC_000023.11:153725385:GG:G p.(Ala41ProfsTer27) NC_000023.11:153725385:GG:G p.(Ala41ProfsTer27) NC_000023.11:153725386:G: Analogous +NM_174917.5:c.136_146del NP_777577.2:p.Val46fs NC_000016.10:89100812:CCCGGTGTTCACCCG:CCCG p.(Val46CysfsTer12) NC_000016.10:89100812:CCCGGTGTTCACCCG:CCCG p.(Val46CysfsTer12) NC_000016.10:89100816:GTGTTCACCCG: Analogous +NM_001692.4:c.67C>T NP_001683.2:p.Arg23Ter NC_000002.12:70936020:C:T p.(Arg23Ter) NC_000002.12:70936020:C:T p.(Arg23Ter) NC_000002.12:70936020:C:T Identity +NM_001363711.2:c.2635G>A NP_001350640.1:p.Glu879Lys NC_000015.10:45103978:C:T p.(Glu879Lys) NC_000015.10:45103978:C:T p.(Glu879Lys) NC_000015.10:45103978:C:T Identity +NM_001146056.3:c.107C>T NP_001139528.1:p.Pro36Leu NC_000019.10:54188223:G:A p.(Pro36Leu) NC_000019.10:54188223:G:A p.(Pro36Leu) NC_000019.10:54188223:G:A Identity +NM_015909.4:c.1141dup NP_056993.2:p.Ile381fs NC_000002.12:15478231:TTTTTTTT:TTTTTTTTT p.(Ile381AsnfsTer4) NC_000002.12:15478231:TTTTTTTT:TTTTTTTTT p.(Ile381AsnfsTer4) ERR:SPDI Analogous +NM_001077196.2:c.253C>T NP_001070664.1:p.Gln85Ter NC_000002.12:177817916:G:A p.(Gln85Ter) NC_000002.12:177817916:G:A p.(Gln85Ter) NC_000002.12:177817916:G:A Identity +NM_012327.6:c.407G>A NP_036459.1:p.Trp136Ter NC_000018.10:62157163:C:T p.(Trp136Ter) NC_000018.10:62157163:C:T p.(Trp136Ter) NC_000018.10:62157163:C:T Identity +NM_000030.3:c.838del NP_000021.1:p.Ala280fs NC_000002.12:240875995:G: p.(Ala280ArgfsTer32) NC_000002.12:240875995:G: p.(Ala280ArgfsTer32) NC_000002.12:240875995:G: Analogous +NM_057176.3:c.97G>C NP_476517.1:p.Val33Leu NC_000001.11:54999282:G:C p.(Val33Leu) NC_000001.11:54999282:G:C p.(Val33Leu) NC_000001.11:54999282:G:C Identity +NM_025099.6:c.2T>A NP_079375.3:p.Met1Lys NC_000017.11:8248034:A:T p.(Met1Lys) NC_000017.11:8248034:A:T p.Met1? NC_000017.11:8248034:A:T Identity +NM_000128.4:c.1327C>T NP_000119.1:p.Arg443Cys NC_000004.12:186285659:C:T p.(Arg443Cys) NC_000004.12:186285659:C:T p.(Arg443Cys) NC_000004.12:186285659:C:T Identity +NM_001005340.2:c.319_332del NP_001005340.1:p.Lys107fs NC_000007.14:23254254:AGATGCCAAAAGGAAGATGCCAA:AGATGCCAA p.(Lys107TrpfsTer6) NC_000007.14:23254254:AGATGCCAAAAGGAAGATGCCAA:AGATGCCAA p.(Lys107TrpfsTer6) NC_000007.14:23254263:AAGGAAGATGCCAA: Analogous +NM_001363227.2:c.90dup NP_001350156.1:p.Arg31fs NC_000008.11:43140582:GGGG:GGGGG p.(Arg31AlafsTer30) NC_000008.11:43140582:GGGG:GGGGG p.(Arg31AlafsTer30) ERR:SPDI Analogous +NM_001193465.2:c.295C>T NP_001180394.1:p.Gln99Ter NC_000017.11:46171848:G:A p.(Gln99Ter) NC_000017.11:46171848:G:A p.(Gln99Ter) NC_000017.11:46171848:G:A Identity +LRG_1420t1:c.5565del LRG_1420p1:p.Gln1855fs NC_000011.10:77205545:G: ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found ERR:AlignmentMapper(tx_ac=LRG_1420t1, alt_ac=LRG_1420t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1420t1, alt_ac=LRG_1420t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found +NM_001164507.2:c.6775C>T NP_001157979.2:p.Gln2259Ter NC_000002.12:151655301:G:A p.(Gln2259Ter) NC_000002.12:151655301:G:A p.(Gln2259Ter) NC_000002.12:151655301:G:A Identity +NM_004204.5:c.241del NP_004195.2:p.Leu81fs NC_000016.10:574313:CC:C p.(Leu81TrpfsTer89) NC_000016.10:574313:CC:C p.(Leu81TrpfsTer89) NC_000016.10:574314:C: Analogous +NM_000426.4:c.6129_6139dup NP_000417.3:p.Thr2047fs NC_000006.12:129440854:GACAAGCCAACGACA:GACAAGCCAACGACAAGCCAACGACA p.(Thr2047LysfsTer23) NC_000006.12:129440854:GACAAGCCAACGACA:GACAAGCCAACGACAAGCCAACGACA p.(Thr2047LysfsTer23) ERR:SPDI Analogous +NM_001271208.2:c.24632dup NP_001258137.2:p.Val8212fs NC_000002.12:151494212:GGGG:GGGGG p.(Val8212CysfsTer4) NC_000002.12:151494212:GGGG:GGGGG p.(Val8212CysfsTer4) ERR:SPDI Analogous +NM_000466.3:c.3310_3311insGT NP_000457.1:p.Leu1104fs NC_000007.14:92491399:A:ACA p.(Leu1104CysfsTer2) NC_000007.14:92491398:A:AC p.(Leu1104CysfsTer2) NC_000007.14:92491399:AA:AC Analogous +NM_001004426.3:c.1915del NP_001004426.1:p.Leu639fs NC_000022.11:38113611:GGG:GG p.(Leu639TrpfsTer11) NC_000022.11:38113611:GGG:GG p.(Leu639TrpfsTer11) NC_000022.11:38113611:G: Analogous +NM_000070.3:c.212_214delinsGG NP_000061.1:p.Lys71fs NC_000015.10:42360016:AGA:GG p.(Lys72GlufsTer55) NC_000015.10:42360015:AAGAA:AAGG p.(Lys71ArgfsTer56) NC_000015.10:42360016:AGA:GG Analogous +NM_003126.4:c.262C>T NP_003117.2:p.Gln88Ter NC_000001.11:158685109:G:A p.(Gln88Ter) NC_000001.11:158685109:G:A p.(Gln88Ter) NC_000001.11:158685109:G:A Identity +NM_017890.5:c.9776del NP_060360.3:p.Asn3259fs NC_000008.11:99835281:AA:A p.(Asn3259IlefsTer5) NC_000008.11:99835281:AA:A p.(Asn3259IlefsTer5) NC_000008.11:99835282:A: Analogous +NM_000061.3:c.215del NP_000052.1:p.Asn72fs NC_000023.11:101374560:TTTTTTT:TTTTTT p.(Asn72IlefsTer49) NC_000023.11:101374560:TTTTTTT:TTTTTT p.(Asn72IlefsTer49) NC_000023.11:101374560:T: Analogous +NM_006363.6:c.222_225del NP_006354.2:p.Cys74fs NC_000020.11:18512224:TCAG: p.(Cys74TrpfsTer30) NC_000020.11:18512221:CAGTCAG:CAG p.(Cys74TrpfsTer30) NC_000020.11:18512224:TCAG: Analogous +NM_001291411.2:c.2977_2980delinsAATTTTATTCA NP_001278340.2:p.Leu993fs NC_000021.9:33552207:TTAG:AATTTTATTCA p.(Leu993AsnfsTer6) NC_000021.9:33552206:GTTAG:GAATTTTATTCA p.(Leu993AsnfsTer6) NC_000021.9:33552207:TTAG:AATTTTATTCA Analogous +LRG_427t1:c.26006_26015del LRG_427p1:p.Leu8669fs NC_000006.12:152132200:CAGGAAGACA: ERR:Data provider error: ValueError: Transcript LRG_427t1 not found ERR:Data provider error: ValueError: Transcript LRG_427t1 not found ERR:AlignmentMapper(tx_ac=LRG_427t1, alt_ac=LRG_427t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_427t1, alt_ac=LRG_427t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_427t1 not found +NM_000282.4:c.362A>G NP_000273.2:p.Tyr121Cys NC_000013.11:100155039:A:G p.(Tyr121Cys) NC_000013.11:100155039:A:G p.(Tyr121Cys) NC_000013.11:100155039:A:G Identity +NM_138694.4:c.2854G>T NP_619639.3:p.Gly952Ter NC_000006.12:52043101:C:A p.(Gly952Ter) NC_000006.12:52043101:C:A p.(Gly952Ter) NC_000006.12:52043101:C:A Identity +NM_001283009.2:c.2821G>T NP_001269938.1:p.Glu941Ter NC_000020.11:63692972:G:T p.(Glu941Ter) NC_000020.11:63692972:G:T p.(Glu941Ter) NC_000020.11:63692972:G:T Identity +NM_000138.5:c.3130T>G NP_000129.3:p.Cys1044Gly NC_000015.10:48488445:A:C p.(Cys1044Gly) NC_000015.10:48488445:A:C p.(Cys1044Gly) NC_000015.10:48488445:A:C Identity +NM_000833.5:c.1686del NP_000824.1:p.Phe562fs NC_000016.10:9834195:AAA:AA p.(Phe562LeufsTer2) NC_000016.10:9834195:AAA:AA p.(Phe562LeufsTer2) NC_000016.10:9834195:A: Analogous +NM_000811.3:c.167C>G NP_000802.2:p.Thr56Ser NC_000005.10:161686944:C:G p.(Thr56Ser) NC_000005.10:161686944:C:G p.(Thr56Ser) NC_000005.10:161686944:C:G Identity +NM_000059.4:c.5893C>G NP_000050.3:p.Leu1965Val NC_000013.11:32340247:C:G p.(Leu1965Val) NC_000013.11:32340247:C:G p.(Leu1965Val) NC_000013.11:32340247:C:G Identity +NM_005249.5:c.543G>C NP_005240.3:p.Lys181Asn NC_000014.9:28767821:G:C p.(Lys181Asn) NC_000014.9:28767821:G:C p.(Lys181Asn) NC_000014.9:28767821:G:C Identity +NM_014681.6:c.2197G>A NP_055496.2:p.Gly733Arg NC_000019.10:47375597:G:A p.(Gly733Arg) NC_000019.10:47375597:G:A p.(Gly733Arg) NC_000019.10:47375597:G:A Identity +NM_001330004.2:c.382A>G NP_001316933.1:p.Asn128Asp NC_000002.12:227893903:A:G p.(Asn128Asp) NC_000002.12:227893903:A:G p.(Asn128Asp) NC_000002.12:227893903:A:G Identity +NM_001365276.2:c.10457C>T NP_001352205.1:p.Thr3486Met NC_000006.12:32046323:G:A p.(Thr3486Met) NC_000006.12:32046323:G:A p.(Thr3486Met) NC_000006.12:32046323:G:A Identity +NM_001142649.2:c.2548G>T NP_001136121.1:p.Ala850Ser NC_000011.10:22279573:G:T p.(Ala850Ser) NC_000011.10:22279573:G:T p.(Ala850Ser) NC_000011.10:22279573:G:T Identity +NM_133378.4:c.99241G>T NP_596869.4:p.Glu33081Ter NC_000002.12:178528805:C:A p.(Glu33081Ter) NC_000002.12:178528805:C:A p.(Glu33081Ter) NC_000002.12:178528805:C:A Identity +NM_001005505.3:c.829C>T NP_001005505.1:p.Arg277Ter NC_000003.12:50380760:G:A p.(Arg277Ter) NC_000003.12:50380760:G:A p.(Arg277Ter) NC_000003.12:50380760:G:A Identity +NM_012464.5:c.2993T>A NP_036596.3:p.Ile998Lys NC_000004.12:166100826:T:A p.(Ile998Lys) NC_000004.12:166100826:T:A p.(Ile998Lys) NC_000004.12:166100826:T:A Identity +NM_000833.5:c.1782_1783insTT NP_000824.1:p.His595fs NC_000016.10:9829647::AA p.(His595PhefsTer60) NC_000016.10:9829646:G:AA p.(His595PhefsTer60) NC_000016.10:9829647:GG:AA Analogous +NM_001111061.2:c.26C>T NP_001104531.1:p.Ala9Val NC_000001.11:115838346:G:A p.(Ala9Val) NC_000001.11:115838346:G:A p.(Ala9Val) NC_000001.11:115838346:G:A Identity +NM_001374769.1:c.776A>C NP_001361698.1:p.Asp259Ala NC_000006.12:100448219:T:G p.(Asp259Ala) NC_000006.12:100448219:T:G p.(Asp259Ala) NC_000006.12:100448219:T:G Identity +NM_001365276.2:c.9679G>A NP_001352205.1:p.Gly3227Arg NC_000006.12:32049347:C:T p.(Gly3227Arg) NC_000006.12:32049347:C:T p.(Gly3227Arg) NC_000006.12:32049347:C:T Identity +NM_001005498.4:c.1106A>T NP_001005498.2:p.Asp369Val NC_000017.11:76476838:T:A p.(Asp369Val) NC_000017.11:76476838:T:A p.(Asp369Val) NC_000017.11:76476838:T:A Identity +NM_006160.4:c.488T>C NP_006151.3:p.Leu163Pro NC_000017.11:39606111:A:G p.(Leu163Pro) NC_000017.11:39606111:A:G p.(Leu163Pro) NC_000017.11:39606111:A:G Identity +NM_001365276.2:c.5276C>T NP_001352205.1:p.Thr1759Met NC_000006.12:32070128:G:A p.(Thr1759Met) NC_000006.12:32070128:G:A p.(Thr1759Met) NC_000006.12:32070128:G:A Identity +NM_001130442.3:c.466T>C NP_001123914.1:p.Phe156Leu NC_000011.10:532739:A:G p.(Phe156Leu) NC_000011.10:532739:A:G p.(Phe156Leu) NC_000011.10:532739:A:G Identity +NM_001454.4:c.837del NP_001445.2:p.Lys280fs NC_000017.11:76137781:GGG:GG p.(Lys280SerfsTer53) NC_000017.11:76137781:GGG:GG p.(Lys280SerfsTer53) NC_000017.11:76137781:G: Analogous +NM_001303496.3:c.4090T>C NP_001290425.1:p.Tyr1364His NC_000007.14:93131881:A:G p.(Tyr1364His) NC_000007.14:93131881:A:G p.(Tyr1364His) NC_000007.14:93131881:A:G Identity +NM_000833.5:c.2341_2343delinsAT NP_000824.1:p.Gln781fs NC_000016.10:9798289:CTG:AT p.(Gln781IlefsTer27) NC_000016.10:9798289:CTG:AT p.(Gln781IlefsTer27) NC_000016.10:9798289:CTG:AT Analogous +NM_005249.5:c.1141del NP_005240.3:p.Ala381fs NC_000014.9:28768418:GG:G p.(Ala381ProfsTer4) NC_000014.9:28768418:GG:G p.(Ala381ProfsTer4) NC_000014.9:28768419:G: Analogous +NM_002016.2:c.1685C>A NP_002007.1:p.Ser562Ter NC_000001.11:152313200:G:T p.(Ser562Ter) NC_000001.11:152313200:G:T p.(Ser562Ter) NC_000001.11:152313200:G:T Identity +NM_001382235.1:c.1045A>C NP_001369164.1:p.Thr349Pro NC_000020.11:63433881:T:G p.(Thr349Pro) NC_000020.11:63433881:T:G p.(Thr349Pro) NC_000020.11:63433881:T:G Identity +NM_001323956.2:c.207C>G NP_001310885.1:p.Ser69Arg NC_000020.11:419441:C:G p.(Ser69Arg) NC_000020.11:419441:C:G p.(Ser69Arg) NC_000020.11:419441:C:G Identity +NM_001256324.2:c.868G>A NP_001243253.1:p.Gly290Arg NC_000017.11:50572674:G:A p.(Gly290Arg) NC_000017.11:50572674:G:A p.(Gly290Arg) NC_000017.11:50572674:G:A Identity +NM_001303256.3:c.2449G>T NP_001290185.1:p.Val817Leu NC_000022.11:30932961:C:A p.(Val817Leu) NC_000022.11:30932961:C:A p.(Val817Leu) NC_000022.11:30932961:C:A Identity +NM_001040142.2:c.4657G>A NP_001035232.1:p.Asp1553Asn NC_000002.12:165386850:G:A p.(Asp1553Asn) NC_000002.12:165386850:G:A p.(Asp1553Asn) NC_000002.12:165386850:G:A Identity +NM_001135.4:c.2450T>C NP_001126.3:p.Leu817Pro NC_000015.10:88855034:T:C p.(Leu817Pro) NC_000015.10:88855034:T:C p.(Leu817Pro) NC_000015.10:88855034:T:C Identity +NM_000823.4:c.170C>T NP_000814.2:p.Ala57Val NC_000007.14:30969071:C:T p.(Ala57Val) NC_000007.14:30969071:C:T p.(Ala57Val) NC_000007.14:30969071:C:T Identity +NM_138694.4:c.11421del NP_619639.3:p.Asp3808fs NC_000006.12:51638933:TT:T p.(Asp3808MetfsTer12) NC_000006.12:51638933:TT:T p.(Asp3808MetfsTer12) NC_000006.12:51638933:T: Analogous +NM_001039213.4:c.673C>T NP_001034302.2:p.Arg225Cys NC_000019.10:44705600:C:T p.(Arg225Cys) NC_000019.10:44705600:C:T p.(Arg225Cys) NC_000019.10:44705600:C:T Identity +NM_001111061.2:c.91G>A NP_001104531.1:p.Val31Met NC_000001.11:115838281:C:T p.(Val31Met) NC_000001.11:115838281:C:T p.(Val31Met) NC_000001.11:115838281:C:T Identity +NM_001130089.2:c.1747G>A NP_001123561.1:p.Ala583Thr NC_000016.10:75628600:C:T p.(Ala583Thr) NC_000016.10:75628600:C:T p.(Ala583Thr) NC_000016.10:75628600:C:T Identity +NM_001165963.4:c.4699G>A NP_001159435.1:p.Glu1567Lys NC_000002.12:165994298:C:T p.(Glu1567Lys) NC_000002.12:165994298:C:T p.(Glu1567Lys) NC_000002.12:165994298:C:T Identity +NM_001256850.1:c.75223A>T NP_001243779.1:p.Lys25075Ter NC_000002.12:178565985:T:A p.(Lys25075Ter) NC_000002.12:178565985:T:A p.(Lys25075Ter) NC_000002.12:178565985:T:A Identity +LRG_630t2:c.53G>T LRG_630p2:p.Arg18Leu NC_000020.11:32358827:G:T ERR:Data provider error: ValueError: Transcript LRG_630t2 not found ERR:Data provider error: ValueError: Transcript LRG_630t2 not found ERR:AlignmentMapper(tx_ac=LRG_630t2, alt_ac=LRG_630t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_630t2, alt_ac=LRG_630t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_630t2 not found +NM_005618.4:c.1778T>G NP_005609.3:p.Leu593Arg NC_000006.12:170283500:A:C p.(Leu593Arg) NC_000006.12:170283500:A:C p.(Leu593Arg) NC_000006.12:170283500:A:C Identity +NM_021035.3:c.2698_2699insT NP_066363.1:p.Arg900fs NC_000020.11:49255913::A p.(Arg900MetfsTer5) NC_000020.11:49255912:C:A p.(Arg900MetfsTer5) NC_000020.11:49255913:CT:A Analogous +NM_021035.3:c.1623_1624del NP_066363.1:p.His542fs NC_000020.11:49270187:GAGAG:GAG p.(His542CysfsTer41) NC_000020.11:49270187:GAGAG:GAG p.(His542CysfsTer41) NC_000020.11:49270187:GA: Analogous +NM_001365953.1:c.2606C>A NP_001352882.1:p.Pro869Gln NC_000001.11:10303790:C:A p.(Pro869Gln) NC_000001.11:10303790:C:A p.(Pro869Gln) NC_000001.11:10303790:C:A Identity +NM_001042572.3:c.983A>T NP_001036037.1:p.Gln328Leu NC_000015.10:92942998:A:T p.(Gln328Leu) NC_000015.10:92942998:A:T p.(Gln328Leu) NC_000015.10:92942998:A:T Identity +NM_000091.5:c.1972C>G NP_000082.2:p.Pro658Ala NC_000002.12:227276428:C:G p.(Pro658Ala) NC_000002.12:227276428:C:G p.(Pro658Ala) NC_000002.12:227276428:C:G Identity +NM_000068.4:c.5915G>T NP_000059.3:p.Arg1972Leu NC_000019.10:13214275:C:A p.(Arg1972Leu) NC_000019.10:13214275:C:A p.(Arg1972Leu) NC_000019.10:13214275:C:A Identity +NM_000462.5:c.220G>A NP_000453.2:p.Glu74Lys NC_000015.10:25375614:C:T p.(Glu74Lys) NC_000015.10:25375614:C:T p.(Glu74Lys) NC_000015.10:25375614:C:T Identity +NM_001351527.2:c.4136A>G NP_001338456.1:p.His1379Arg NC_000009.12:132327461:T:C p.(His1379Arg) NC_000009.12:132327461:T:C p.(His1379Arg) NC_000009.12:132327461:T:C Identity +NM_000090.4:c.2506G>A NP_000081.2:p.Gly836Arg NC_000002.12:189003014:G:A p.(Gly836Arg) NC_000002.12:189003014:G:A p.(Gly836Arg) NC_000002.12:189003014:G:A Identity +NM_001035.3:c.1691G>A NP_001026.2:p.Arg564Lys NC_000001.11:237469169:G:A p.(Arg564Lys) NC_000001.11:237469169:G:A p.(Arg564Lys) NC_000001.11:237469169:G:A Identity +NM_001362843.2:c.1423dup NP_001349772.1:p.Tyr475fs NC_000022.11:41131527:T:TT p.(Tyr475LeufsTer38) NC_000022.11:41131527:T:TT p.(Tyr475LeufsTer38) ERR:SPDI Analogous +NM_152448.3:c.544dup NP_689661.1:p.Met182fs NC_000015.10:44978508:A:AA p.(Met182AsnfsTer10) NC_000015.10:44978508:A:AA p.(Met182AsnfsTer10) ERR:SPDI Analogous +NM_017433.5:c.1580A>G NP_059129.3:p.His527Arg NC_000010.11:26096397:A:G p.(His527Arg) NC_000010.11:26096397:A:G p.(His527Arg) NC_000010.11:26096397:A:G Identity +NM_001128827.4:c.783T>A NP_001122299.1:p.Tyr261Ter NC_000017.11:7197047:A:T p.(Tyr261Ter) NC_000017.11:7197047:A:T p.(Tyr261Ter) NC_000017.11:7197047:A:T Identity +NM_001256850.1:c.81691G>A NP_001243779.1:p.Asp27231Asn NC_000002.12:178559517:C:T p.(Asp27231Asn) NC_000002.12:178559517:C:T p.(Asp27231Asn) NC_000002.12:178559517:C:T Identity +NM_000065.5:c.1967G>A NP_000056.2:p.Arg656Gln NC_000005.10:41158674:C:T p.(Arg656Gln) NC_000005.10:41158674:C:T p.(Arg656Gln) NC_000005.10:41158674:C:T Identity +NM_001135.4:c.2023C>T NP_001126.3:p.Arg675Ter NC_000015.10:88849727:C:T p.(Arg675Ter) NC_000015.10:88849727:C:T p.(Arg675Ter) NC_000015.10:88849727:C:T Identity +NM_001170460.2:c.1664T>C NP_001163931.1:p.Met555Thr NC_000023.11:47228632:T:C p.(Met555Thr) NC_000023.11:47228632:T:C p.(Met555Thr) NC_000023.11:47228632:T:C Identity +NM_000296.4:c.3764G>A NP_000287.4:p.Gly1255Asp NC_000016.10:2111402:C:T p.(Gly1255Asp) NC_000016.10:2111402:C:T p.(Gly1255Asp) NC_000016.10:2111402:C:T Identity +NM_001388308.1:c.877C>T NP_001375237.1:p.Arg293Ter NC_000009.12:114096068:G:A p.(Arg293Ter) NC_000009.12:114096068:G:A p.(Arg293Ter) NC_000009.12:114096068:G:A Identity +NM_017780.4:c.4036C>T NP_060250.2:p.Gln1346Ter NC_000008.11:60836862:C:T p.(Gln1346Ter) NC_000008.11:60836862:C:T p.(Gln1346Ter) NC_000008.11:60836862:C:T Identity +NM_000038.6:c.301G>A NP_000029.2:p.Gly101Arg NC_000005.10:112767268:G:A p.(Gly101Arg) NC_000005.10:112767268:G:A p.(Gly101Arg) NC_000005.10:112767268:G:A Identity +NM_000059.4:c.5511dup NP_000050.3:p.Glu1838Ter NC_000013.11:32339862:TTTT:TTTTT p.(Glu1838Ter) NC_000013.11:32339862:TTTT:TTTTT p.(Glu1838Ter) ERR:SPDI Identity +NM_001080463.2:c.2717A>G NP_001073932.1:p.Asp906Gly NC_000011.10:103147785:A:G p.(Asp906Gly) NC_000011.10:103147785:A:G p.(Asp906Gly) NC_000011.10:103147785:A:G Identity +NM_002317.7:c.382G>A NP_002308.2:p.Gly128Ser NC_000005.10:122077603:C:T p.(Gly128Ser) NC_000005.10:122077603:C:T p.(Gly128Ser) NC_000005.10:122077603:C:T Identity +NM_000091.5:c.520G>T NP_000082.2:p.Gly174Trp NC_000002.12:227248493:G:T p.(Gly174Trp) NC_000002.12:227248493:G:T p.(Gly174Trp) NC_000002.12:227248493:G:T Identity +NM_001256850.1:c.67612G>A NP_001243779.1:p.Val22538Ile NC_000002.12:178573596:C:T p.(Val22538Ile) NC_000002.12:178573596:C:T p.(Val22538Ile) NC_000002.12:178573596:C:T Identity +NM_001844.5:c.4012A>G NP_001835.3:p.Ser1338Gly NC_000012.12:47974736:T:C p.(Ser1338Gly) NC_000012.12:47974736:T:C p.(Ser1338Gly) NC_000012.12:47974736:T:C Identity +NM_001135.4:c.5539G>T NP_001126.3:p.Glu1847Ter NC_000015.10:88858123:G:T p.(Glu1847Ter) NC_000015.10:88858123:G:T p.(Glu1847Ter) NC_000015.10:88858123:G:T Identity +NM_020461.4:c.2038G>T NP_065194.3:p.Ala680Ser NC_000022.11:50224537:C:A p.(Ala680Ser) NC_000022.11:50224537:C:A p.(Ala680Ser) NC_000022.11:50224537:C:A Identity +NM_001282716.1:c.1950C>A NP_001269645.1:p.Tyr650Ter NC_000007.14:100200857:C:A p.(Tyr650Ter) NC_000007.14:100200857:C:A p.(Tyr650Ter) NC_000007.14:100200857:C:A Identity +NM_000488.4:c.819G>C NP_000479.1:p.Lys273Asn NC_000001.11:173909885:C:G p.(Lys273Asn) NC_000001.11:173909885:C:G p.(Lys273Asn) NC_000001.11:173909885:C:G Identity +NM_000342.4:c.2422C>T NP_000333.1:p.Arg808Cys NC_000017.11:44251477:G:A p.(Arg808Cys) NC_000017.11:44251477:G:A p.(Arg808Cys) NC_000017.11:44251477:G:A Identity +NM_001256850.1:c.33300_33325delinsG NP_001243779.1:p.Leu11101fs NC_000002.12:178677635:GCACCTTAGGTTTAACTTCTGGAAGG:C p.(Leu11101GlufsTer13) NC_000002.12:178677634:GGCACCTTAGGTTTAACTTCTGGAAGG:GC p.(Leu11101GlnfsTer13) NC_000002.12:178677635:GCACCTTAGGTTTAACTTCTGGAAGG:C Analogous +NM_001378761.1:c.1059del NP_001365690.1:p.Asn353fs NC_000011.10:121105867:T: p.(Asn353LysfsTer8) NC_000011.10:121105867:T: p.(Asn353LysfsTer8) NC_000011.10:121105867:T: Analogous +NM_001368263.1:c.1058A>C NP_001355192.1:p.Gln353Pro NC_000003.12:45485730:A:C p.(Gln353Pro) NC_000003.12:45485730:A:C p.(Gln353Pro) NC_000003.12:45485730:A:C Identity +NM_001256532.1:c.709G>A NP_001243461.1:p.Gly237Ser NC_000001.11:155612211:G:A p.(Gly237Ser) NC_000001.11:155612211:G:A p.(Gly237Ser) NC_000001.11:155612211:G:A Identity +NM_001379352.1:c.445del NP_001366281.1:p.Asp149fs NC_000001.11:146019386:C: p.(Asp149ThrfsTer97) NC_000001.11:146019386:C: p.(Asp149ThrfsTer97) NC_000001.11:146019386:C: Analogous +NM_000060.4:c.124G>C NP_000051.1:p.Ala42Pro NC_000003.12:15635502:G:C ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_007118.4:c.1013A>G NP_009049.2:p.Gln338Arg NC_000005.10:14291187:A:G p.(Gln338Arg) NC_000005.10:14291187:A:G p.(Gln338Arg) NC_000005.10:14291187:A:G Identity +NM_000138.5:c.8408T>C NP_000129.3:p.Phe2803Ser NC_000015.10:48411197:A:G p.(Phe2803Ser) NC_000015.10:48411197:A:G p.(Phe2803Ser) NC_000015.10:48411197:A:G Identity +NM_000179.3:c.1991C>G NP_000170.1:p.Ser664Ter NC_000002.12:47799973:C:G p.(Ser664Ter) NC_000002.12:47799973:C:G p.(Ser664Ter) NC_000002.12:47799973:C:G Identity +NM_000296.4:c.3569G>A NP_000287.4:p.Arg1190His NC_000016.10:2111597:C:T p.(Arg1190His) NC_000016.10:2111597:C:T p.(Arg1190His) NC_000016.10:2111597:C:T Identity +NM_025159.3:c.223C>A NP_079435.1:p.His75Asn NC_000023.11:30560132:G:T p.(His75Asn) NC_000023.11:30560132:G:T p.(His75Asn) NC_000023.11:30560132:G:T Identity +NM_139058.3:c.1495G>A NP_620689.1:p.Ala499Thr NC_000023.11:25004863:C:T p.(Ala499Thr) NC_000023.11:25004863:C:T p.(Ala499Thr) NC_000023.11:25004863:C:T Identity +NM_001166703.2:c.17T>C NP_001160175.1:p.Leu6Ser NC_000023.11:55160864:A:G p.(Leu6Ser) NC_000023.11:55160864:A:G p.(Leu6Ser) NC_000023.11:55160864:A:G Identity +NM_001129.5:c.1141G>C NP_001120.3:p.Glu381Gln NC_000007.14:44109331:G:C p.(Glu381Gln) NC_000007.14:44109331:G:C p.(Glu381Gln) NC_000007.14:44109331:G:C Identity +NM_000530.8:c.130T>C NP_000521.2:p.Ser44Pro NC_000001.11:161307361:A:G p.(Ser44Pro) NC_000001.11:161307361:A:G p.(Ser44Pro) NC_000001.11:161307361:A:G Identity +NM_001378183.1:c.4250A>G NP_001365112.1:p.Lys1417Arg NC_000018.10:10750104:T:C p.(Lys1417Arg) NC_000018.10:10750104:T:C p.(Lys1417Arg) NC_000018.10:10750104:T:C Identity +NM_002661.5:c.3430G>A NP_002652.2:p.Asp1144Asn NC_000016.10:81940007:G:A p.(Asp1144Asn) NC_000016.10:81940007:G:A p.(Asp1144Asn) NC_000016.10:81940007:G:A Identity +NM_001493.3:c.578G>A NP_001484.1:p.Arg193His NC_000023.11:154440129:G:A p.(Arg193His) NC_000023.11:154440129:G:A p.(Arg193His) NC_000023.11:154440129:G:A Identity +NM_030662.4:c.908G>T NP_109587.1:p.Arg303Leu NC_000019.10:4099211:C:A p.(Arg303Leu) NC_000019.10:4099211:C:A p.(Arg303Leu) NC_000019.10:4099211:C:A Identity +NM_001134363.3:c.650G>T NP_001127835.2:p.Gly217Val NC_000010.11:110781258:G:T p.(Gly217Val) NC_000010.11:110781258:G:T p.(Gly217Val) NC_000010.11:110781258:G:T Identity +NM_003319.4:c.55597G>A NP_003310.4:p.Gly18533Ser NC_000002.12:178563339:C:T p.(Gly18533Ser) NC_000002.12:178563339:C:T p.(Gly18533Ser) NC_000002.12:178563339:C:T Identity +NM_001040633.2:c.688G>A NP_001035723.1:p.Val230Ile NC_000007.14:151595388:C:T p.(Val230Ile) NC_000007.14:151595388:C:T p.(Val230Ile) NC_000007.14:151595388:C:T Identity +NM_053025.4:c.17T>C NP_444253.3:p.Leu6Pro NC_000003.12:123793824:A:G p.(Leu6Pro) NC_000003.12:123793824:A:G p.(Leu6Pro) NC_000003.12:123793824:A:G Identity +NM_001321268.2:c.4C>T NP_001308197.1:p.His2Tyr NC_000017.11:58214289:G:A p.(His2Tyr) NC_000017.11:58214289:G:A p.(His2Tyr) NC_000017.11:58214289:G:A Identity +NM_001145357.2:c.23_24del NP_001138829.1:p.Gln8fs NC_000015.10:75430351:CT: p.(Gln8ArgfsTer34) NC_000015.10:75430351:CT: p.(Gln8ArgfsTer34) NC_000015.10:75430351:CT: Analogous +NM_001291860.2:c.6448G>A NP_001278789.1:p.Gly2150Ser NC_000001.11:21853064:C:T p.(Gly2150Ser) NC_000001.11:21853064:C:T p.(Gly2150Ser) NC_000001.11:21853064:C:T Identity +NM_207033.3:c.647G>C NP_996916.1:p.Arg216Pro NC_000020.11:59324430:G:C p.(Arg216Pro) NC_000020.11:59324430:G:C p.(Arg216Pro) NC_000020.11:59324430:G:C Identity +NM_005373.3:c.1327G>C NP_005364.1:p.Gly443Arg NC_000001.11:43348860:G:C p.(Gly443Arg) NC_000001.11:43348860:G:C p.(Gly443Arg) NC_000001.11:43348860:G:C Identity +NM_003793.4:c.1370G>A NP_003784.2:p.Trp457Ter NC_000011.10:66564097:C:T p.(Trp457Ter) NC_000011.10:66564097:C:T p.(Trp457Ter) NC_000011.10:66564097:C:T Identity +NM_001368395.3:c.1889G>A NP_001355324.1:p.Arg630Gln NC_000023.11:12716236:G:A p.(Arg630Gln) NC_000023.11:12716236:G:A p.(Arg630Gln) NC_000023.11:12716236:G:A Identity +NM_001317184.2:c.87C>A NP_001304113.1:p.His29Gln NC_000016.10:68738334:C:A p.(His29Gln) NC_000016.10:68738334:C:A p.(His29Gln) NC_000016.10:68738334:C:A Identity +NM_001005752.2:c.197A>G NP_001005752.1:p.Asp66Gly NC_000001.11:34784958:A:G p.(Asp66Gly) NC_000001.11:34784958:A:G p.(Asp66Gly) NC_000001.11:34784958:A:G Identity +NM_001320580.2:c.985del NP_001307509.1:p.His329fs NC_000003.12:49057214:GGG:GG p.(His329ThrfsTer39) NC_000003.12:49057214:GGG:GG p.(His329ThrfsTer39) NC_000003.12:49057214:G: Analogous +NM_001256850.1:c.37663C>T NP_001243779.1:p.His12555Tyr NC_000002.12:178633912:G:A p.(His12555Tyr) NC_000002.12:178633912:G:A p.(His12555Tyr) NC_000002.12:178633912:G:A Identity +NM_001256850.1:c.38403_38404del NP_001243779.1:p.Gly12802fs NC_000002.12:178632678:CT: p.(Gly12802AsnfsTer7) NC_000002.12:178632678:CT: p.(Gly12802AsnfsTer7) NC_000002.12:178632678:CT: Analogous +NM_001142544.3:c.374C>G NP_001136016.1:p.Ala125Gly NC_000016.10:30902309:C:G p.(Ala125Gly) NC_000016.10:30902309:C:G p.(Ala125Gly) NC_000016.10:30902309:C:G Identity +NM_001008844.3:c.5200G>A NP_001008844.1:p.Glu1734Lys NC_000006.12:7584258:G:A p.(Glu1734Lys) NC_000006.12:7584258:G:A p.(Glu1734Lys) NC_000006.12:7584258:G:A Identity +NM_001145102.2:c.116_117del NP_001138574.1:p.Thr39fs NC_000015.10:67165278:CACACA:CACA p.(Thr39ArgfsTer21) NC_000015.10:67165278:CACACA:CACA p.(Thr39ArgfsTer21) NC_000015.10:67165282:CA: Analogous +NM_001407240.1:c.2009G>A NP_001394169.1:p.Gly670Asp NC_000001.11:55063390:G:A p.(Gly670Asp) NC_000001.11:55063390:G:A p.(Gly670Asp) NC_000001.11:55063390:G:A Identity +NM_001008844.3:c.2171A>G NP_001008844.1:p.Asn724Ser NC_000006.12:7574125:A:G p.(Asn724Ser) NC_000006.12:7574125:A:G p.(Asn724Ser) NC_000006.12:7574125:A:G Identity +NM_001035.3:c.2069C>T NP_001026.2:p.Ala690Val NC_000001.11:237496617:C:T p.(Ala690Val) NC_000001.11:237496617:C:T p.(Ala690Val) NC_000001.11:237496617:C:T Identity +NM_000257.4:c.4565C>T NP_000248.2:p.Thr1522Ile NC_000014.9:23416946:G:A p.(Thr1522Ile) NC_000014.9:23416946:G:A p.(Thr1522Ile) NC_000014.9:23416946:G:A Identity +NM_000038.6:c.1616A>T NP_000029.2:p.Asp539Val NC_000005.10:112827995:A:T p.(Asp539Val) NC_000005.10:112827995:A:T p.(Asp539Val) NC_000005.10:112827995:A:T Identity +NM_001407240.1:c.1149_1151delAGAinsGGG NP_001394169.1:p.Asp384Gly NC_000001.11:55057359:AGA:GGG p.(Asp384Gly) NC_000001.11:55057359:AGA:GGG p.(Asp384Gly) NC_000001.11:55057359:AGA:GGG Identity +NM_001008844.3:c.6740G>A NP_001008844.1:p.Arg2247Gln NC_000006.12:7585798:G:A p.(Arg2247Gln) NC_000006.12:7585798:G:A p.(Arg2247Gln) NC_000006.12:7585798:G:A Identity +NM_000059.4:c.4714G>A NP_000050.3:p.Ala1572Thr NC_000013.11:32339068:G:A p.(Ala1572Thr) NC_000013.11:32339068:G:A p.(Ala1572Thr) NC_000013.11:32339068:G:A Identity +NM_000462.5:c.2480T>A NP_000453.2:p.Ile827Lys NC_000015.10:25340111:A:T p.(Ile827Lys) NC_000015.10:25340111:A:T p.(Ile827Lys) NC_000015.10:25340111:A:T Identity +NM_000334.4:c.1543G>A NP_000325.4:p.Gly515Arg NC_000017.11:63963734:C:T p.(Gly515Arg) NC_000017.11:63963734:C:T p.(Gly515Arg) NC_000017.11:63963734:C:T Identity +NM_001166226.2:c.844G>C NP_001159698.1:p.Ala282Pro NC_000005.10:123391225:C:G p.(Ala282Pro) NC_000005.10:123391225:C:G p.(Ala282Pro) NC_000005.10:123391225:C:G Identity +NM_001165963.4:c.6G>C NP_001159435.1:p.Glu2Asp NC_000002.12:166073615:C:G p.(Glu2Asp) NC_000002.12:166073615:C:G p.(Glu2Asp) NC_000002.12:166073615:C:G Identity +NM_001350748.2:c.2458A>C NP_001337677.1:p.Asn820His NC_000013.11:101107782:T:G p.(Asn820His) NC_000013.11:101107782:T:G p.(Asn820His) NC_000013.11:101107782:T:G Identity +NM_030787.4:c.242C>T NP_110414.1:p.Pro81Leu NC_000001.11:196983067:C:T p.(Pro81Leu) NC_000001.11:196983067:C:T p.(Pro81Leu) NC_000001.11:196983067:C:T Identity +NM_001042681.2:c.2877G>T NP_001036146.1:p.Met959Ile NC_000001.11:8360629:C:A p.(Met959Ile) NC_000001.11:8360629:C:A p.(Met959Ile) NC_000001.11:8360629:C:A Identity +NM_001276504.2:c.100dup NP_001263433.1:p.Ser34fs NC_000011.10:112088913:A:AA p.(Ser34LysfsTer41) NC_000011.10:112088913:A:AA p.(Ser34LysfsTer41) ERR:SPDI Analogous +NM_001035.3:c.11119G>A NP_001026.2:p.Gly3707Ser NC_000001.11:237742322:G:A p.(Gly3707Ser) NC_000001.11:237742322:G:A p.(Gly3707Ser) NC_000001.11:237742322:G:A Identity +NM_001114636.2:c.755_765delTGCTTCCTGAG NP_001108108.1:p.Pro254Leufs NC_000002.12:58163452:GAAGCACTCAGGAAGCA:GAAGCA p.(Pro254LeufsTer5) NC_000002.12:58163452:GAAGCACTCAGGAAGCA:GAAGCA p.(Pro254LeufsTer5) NC_000002.12:58163458:CTCAGGAAGCA: Analogous +NM_001253852.3:c.1181_1182del NP_001240781.1:p.Gln394fs NC_000001.11:113898733:TT: p.(Gln394ArgfsTer23) NC_000001.11:113898733:TT: p.(Gln394ArgfsTer23) NC_000001.11:113898733:TT: Analogous +NM_001306190.2:c.469G>T NP_001293119.1:p.Gly157Cys NC_000009.12:91298025:C:A p.(Gly157Cys) NC_000009.12:91298025:C:A p.(Gly157Cys) NC_000009.12:91298025:C:A Identity +NM_000132.4:c.3637dup NP_000123.1:p.Ile1213fs NC_000023.11:154930152:TTTTTTTTT:TTTTTTTTTT p.(Ile1213AsnfsTer28) NC_000023.11:154930152:TTTTTTTTT:TTTTTTTTTT p.(Ile1213AsnfsTer28) ERR:SPDI Analogous +NM_001300788.2:c.2438A>G NP_001287717.1:p.Gln813Arg NC_000023.11:54081449:T:C p.(Gln813Arg) NC_000023.11:54081449:T:C p.(Gln813Arg) NC_000023.11:54081449:T:C Identity +NM_000517.6:c.307A>C NP_000508.1:p.Ser103Arg NC_000016.10:173477:A:C p.(Ser103Arg) NC_000016.10:173477:A:C p.(Ser103Arg) NC_000016.10:173477:A:C Identity +NM_000132.4:c.2162T>C NP_000123.1:p.Met721Thr NC_000023.11:154931627:A:G p.(Met721Thr) NC_000023.11:154931627:A:G p.(Met721Thr) NC_000023.11:154931627:A:G Identity +NM_001163812.2:c.223C>T NP_001157284.1:p.His75Tyr NC_000010.11:100988432:C:T p.(His75Tyr) NC_000010.11:100988432:C:T p.(His75Tyr) NC_000010.11:100988432:C:T Identity +NM_001164144.3:c.1166C>G NP_001157616.1:p.Ser389Ter NC_000013.11:114325007:C:G p.(Ser389Ter) NC_000013.11:114325007:C:G p.(Ser389Ter) NC_000013.11:114325007:C:G Identity +NM_001270974.2:c.3187A>G NP_001257903.1:p.Lys1063Glu NC_000016.10:71020316:T:C p.(Lys1063Glu) NC_000016.10:71020316:T:C p.(Lys1063Glu) NC_000016.10:71020316:T:C Identity +NM_000212.3:c.1300del NP_000203.2:p.Gln434fs NC_000017.11:47292174:CCCC:CCC p.(Gln434ArgfsTer9) NC_000017.11:47292174:CCCC:CCC p.(Gln434ArgfsTer9) NC_000017.11:47292177:C: Analogous +NM_000540.3:c.9649T>C NP_000531.2:p.Ser3217Pro NC_000019.10:38516180:T:C p.(Ser3217Pro) NC_000019.10:38516180:T:C p.(Ser3217Pro) NC_000019.10:38516180:T:C Identity +NM_001039375.3:c.27_29delinsG NP_001034464.1:p.Leu10fs NC_000020.11:13785094:CTT:G p.(Leu10MetfsTer17) NC_000020.11:13785094:CTT:G p.(Leu10MetfsTer17) NC_000020.11:13785094:CTT:G Analogous +NM_017778.3:c.388C>G NP_060248.2:p.Pro130Ala NC_000008.11:38347783:G:C p.(Pro130Ala) NC_000008.11:38347783:G:C p.(Pro130Ala) NC_000008.11:38347783:G:C Identity +NM_000388.4:c.664G>A NP_000379.3:p.Gly222Arg NC_000003.12:122261698:G:A p.(Gly222Arg) NC_000003.12:122261698:G:A p.(Gly222Arg) NC_000003.12:122261698:G:A Identity +NM_001350626.2:c.1521A>C NP_001337555.1:p.Lys507Asn NC_000007.14:2539619:T:G p.(Lys507Asn) NC_000007.14:2539619:T:G p.(Lys507Asn) NC_000007.14:2539619:T:G Identity +NM_001384732.1:c.49A>T NP_001371661.1:p.Lys17Ter NC_000005.10:37247649:T:A p.(Lys17Ter) NC_000005.10:37247649:T:A p.(Lys17Ter) NC_000005.10:37247649:T:A Identity +NM_001349608.2:c.2567G>A NP_001336537.1:p.Gly856Glu NC_000001.11:7670914:G:A p.(Gly856Glu) NC_000001.11:7670914:G:A p.(Gly856Glu) NC_000001.11:7670914:G:A Identity +NM_000038.6:c.3602C>T NP_000029.2:p.Ser1201Leu NC_000005.10:112839195:C:T p.(Ser1201Leu) NC_000005.10:112839195:C:T p.(Ser1201Leu) NC_000005.10:112839195:C:T Identity +NM_000238.4:c.2672_2673delinsAT NP_000229.1:p.Phe891Tyr NC_000007.14:150948462:GA:AT p.(Phe891Tyr) NC_000007.14:150948462:GA:AT p.(Phe891Tyr) NC_000007.14:150948462:GA:AT Identity +NM_019077.3:c.386_387delinsGG NP_061950.2:p.Asn129Arg NC_000002.12:233682322:AT:GG p.(Asn129Arg) NC_000002.12:233682322:AT:GG p.(Asn129Arg) NC_000002.12:233682322:AT:GG Identity +NM_001999.4:c.6518A>G NP_001990.2:p.Asn2173Ser NC_000005.10:128289245:T:C p.(Asn2173Ser) NC_000005.10:128289245:T:C p.(Asn2173Ser) NC_000005.10:128289245:T:C Identity +NM_001354263.2:c.3401G>A NP_001341192.1:p.Arg1134Gln NC_000009.12:137817485:G:A p.(Arg1134Gln) NC_000009.12:137817485:G:A p.(Arg1134Gln) NC_000009.12:137817485:G:A Identity +NM_001378328.1:c.214C>T NP_001365257.1:p.Arg72Trp NC_000022.11:46536956:G:A p.(Arg72Trp) NC_000022.11:46536956:G:A p.(Arg72Trp) NC_000022.11:46536956:G:A Identity +NM_001077516.2:c.650T>C NP_001070984.1:p.Leu217Pro NC_000006.12:33202277:T:C p.(Leu217Pro) NC_000006.12:33202277:T:C p.(Leu217Pro) NC_000006.12:33202277:T:C Identity +NM_001042424.3:c.3056A>G NP_001035889.1:p.Lys1019Arg NC_000004.12:1959540:A:G p.(Lys1019Arg) NC_000004.12:1959540:A:G p.(Lys1019Arg) NC_000004.12:1959540:A:G Identity +NM_001112808.3:c.1841T>C NP_001106279.3:p.Leu614Pro NC_000001.11:74369455:T:C p.(Leu614Pro) NC_000001.11:74369455:T:C p.(Leu614Pro) NC_000001.11:74369455:T:C Identity +NM_000278.5:c.175C>T NP_000269.3:p.Arg59Trp NC_000010.11:100749876:C:T p.(Arg59Trp) NC_000010.11:100749876:C:T p.(Arg59Trp) NC_000010.11:100749876:C:T Identity +NM_000384.3:c.3301A>G NP_000375.3:p.Ile1101Val NC_000002.12:21016469:T:C p.(Ile1101Val) NC_000002.12:21016469:T:C p.(Ile1101Val) NC_000002.12:21016469:T:C Identity +NM_000059.4:c.5354C>T NP_000050.3:p.Thr1785Ile NC_000013.11:32339708:C:T p.(Thr1785Ile) NC_000013.11:32339708:C:T p.(Thr1785Ile) NC_000013.11:32339708:C:T Identity +NM_000169.3:c.624G>T NP_000160.1:p.Met208Ile NC_000023.11:101400680:C:A p.(Met208Ile) NC_000023.11:101400680:C:A p.(Met208Ile) NC_000023.11:101400680:C:A Identity +NM_000090.4:c.2318C>G NP_000081.2:p.Ala773Gly NC_000002.12:189001430:C:G p.(Ala773Gly) NC_000002.12:189001430:C:G p.(Ala773Gly) NC_000002.12:189001430:C:G Identity +NM_001024847.3:c.975G>T NP_001020018.1:p.Lys325Asn NC_000003.12:30672082:G:T p.(Lys325Asn) NC_000003.12:30672082:G:T p.(Lys325Asn) NC_000003.12:30672082:G:T Identity +NM_000426.4:c.1282_1283dup NP_000417.3:p.Asp429fs NC_000006.12:129165650:AA:AAAA p.(Asp429ArgfsTer24) NC_000006.12:129165650:AA:AAAA p.(Asp429ArgfsTer24) ERR:SPDI Analogous +NM_001120.5:c.343G>C NP_001111.3:p.Gly115Arg NC_000004.12:2933134:C:G p.(Gly115Arg) NC_000004.12:2933134:C:G p.(Gly115Arg) NC_000004.12:2933134:C:G Identity +NM_000404.4:c.425_428del NP_000395.3:p.Lys142fs NC_000003.12:33068258:TCTTTCT:TCT p.(Lys142SerfsTer27) NC_000003.12:33068258:TCTTTCT:TCT p.(Lys142SerfsTer27) NC_000003.12:33068258:TCTT: Analogous +NM_001134665.3:c.23dup NP_001128137.1:p.Phe9fs NC_000004.12:99559315:G:GG p.(Phe9IlefsTer3) NC_000004.12:99559315:G:GG p.(Phe9IlefsTer3) ERR:SPDI Analogous +NM_001029860.4:c.1991G>A NP_001025031.2:p.Gly664Asp NC_000008.11:100133937:C:T p.(Gly664Asp) NC_000008.11:100133937:C:T p.(Gly664Asp) NC_000008.11:100133937:C:T Identity +NM_001171993.2:c.346del NP_001165464.1:p.Gln116fs NC_000012.12:121849741:GG:G p.(Gln116AsnfsTer26) NC_000012.12:121849741:GG:G p.(Gln116AsnfsTer26) NC_000012.12:121849741:G: Analogous +NM_021154.5:c.444C>A NP_066977.1:p.Tyr148Ter NC_000009.12:78306359:C:A p.(Tyr148Ter) NC_000009.12:78306359:C:A p.(Tyr148Ter) NC_000009.12:78306359:C:A Identity +NM_006946.4:c.5974C>T NP_008877.2:p.Gln1992Ter NC_000011.10:66689155:G:A p.(Gln1992Ter) NC_000011.10:66689155:G:A p.(Gln1992Ter) NC_000011.10:66689155:G:A Identity +NM_000532.5:c.682C>G NP_000523.2:p.Pro228Ala NC_000003.12:136293782:C:G p.(Pro228Ala) NC_000003.12:136293782:C:G p.(Pro228Ala) NC_000003.12:136293782:C:G Identity +NM_001001344.3:c.2357G>A NP_001001344.1:p.Arg786Gln NC_000023.11:153556946:G:A p.(Arg786Gln) NC_000023.11:153556946:G:A p.(Arg786Gln) NC_000023.11:153556946:G:A Identity +NM_003412.4:c.1097T>A NP_003403.2:p.Met366Lys NC_000003.12:147412631:T:A p.(Met366Lys) NC_000003.12:147412631:T:A p.(Met366Lys) NC_000003.12:147412631:T:A Identity +NM_001201484.2:c.1456T>G NP_001188413.1:p.Phe486Val NC_000009.12:35090612:A:C p.(Phe486Val) NC_000009.12:35090612:A:C p.(Phe486Val) NC_000009.12:35090612:A:C Identity +NM_001300899.2:c.2777T>A NP_001287828.1:p.Leu926Gln NC_000006.12:75890174:T:A p.(Leu926Gln) NC_000006.12:75890174:T:A p.(Leu926Gln) NC_000006.12:75890174:T:A Identity +NM_001330437.2:c.991C>T NP_001317366.1:p.Gln331Ter NC_000012.12:112477913:C:T p.(Gln331Ter) NC_000012.12:112477913:C:T p.(Gln331Ter) NC_000012.12:112477913:C:T Identity +NM_000721.4:c.2150A>G NP_000712.2:p.Gln717Arg NC_000001.11:181726071:A:G p.(Gln717Arg) NC_000001.11:181726071:A:G p.(Gln717Arg) NC_000001.11:181726071:A:G Identity +NM_001371986.1:c.3493G>C NP_001358915.1:p.Asp1165His NC_000002.12:209849488:G:C p.(Asp1165His) NC_000002.12:209849488:G:C p.(Asp1165His) NC_000002.12:209849488:G:C Identity +NM_024490.4:c.713A>T NP_077816.1:p.Asn238Ile NC_000015.10:25736082:T:A p.(Asn238Ile) NC_000015.10:25736082:T:A p.(Asn238Ile) NC_000015.10:25736082:T:A Identity +NM_001304550.2:c.490C>T NP_001291479.1:p.Pro164Ser NC_000016.10:20737872:G:A p.(Pro164Ser) NC_000016.10:20737872:G:A p.(Pro164Ser) NC_000016.10:20737872:G:A Identity +NM_021147.5:c.906del NP_066970.3:p.Leu303fs NC_000005.10:55231521:G: p.(Leu303CysfsTer24) NC_000005.10:55231521:G: p.(Leu303CysfsTer24) NC_000005.10:55231521:G: Analogous +NM_000257.4:c.2510A>G NP_000248.2:p.Lys837Arg NC_000014.9:23424937:T:C p.(Lys837Arg) NC_000014.9:23424937:T:C p.(Lys837Arg) NC_000014.9:23424937:T:C Identity +NM_000459.5:c.3263T>C NP_000450.3:p.Ile1088Thr NC_000009.12:27228267:T:C p.(Ile1088Thr) NC_000009.12:27228267:T:C p.(Ile1088Thr) NC_000009.12:27228267:T:C Identity +NM_001197104.2:c.1274del NP_001184033.1:p.Pro425fs NC_000011.10:118472429:CCCC:CCC p.(Pro425LeufsTer5) NC_000011.10:118472429:CCCC:CCC p.(Pro425LeufsTer5) NC_000011.10:118472432:C: Analogous +NM_001190964.4:c.3532del NP_001177893.1:p.Ile1178fs NC_000013.11:20082090:AAAA:AAA p.(Ile1178TyrfsTer27) NC_000013.11:20082090:AAAA:AAA p.(Ile1178TyrfsTer27) NC_000013.11:20082093:A: Analogous +NM_001244189.2:c.2116C>T NP_001231118.1:p.Gln706Ter NC_000014.9:58461057:C:T p.(Gln706Ter) NC_000014.9:58461057:C:T p.(Gln706Ter) NC_000014.9:58461057:C:T Identity +NM_000314.8:c.106G>A NP_000305.3:p.Gly36Arg NC_000010.11:87894050:G:A p.(Gly36Arg) NC_000010.11:87894050:G:A p.(Gly36Arg) NC_000010.11:87894050:G:A Identity +NM_019024.3:c.1549C>T NP_061897.1:p.Gln517Ter NC_000002.12:37064774:G:A p.(Gln517Ter) NC_000002.12:37064774:G:A p.(Gln517Ter) NC_000002.12:37064774:G:A Identity +NM_000720.4:c.5647C>T NP_000711.1:p.Gln1883Ter NC_000003.12:53804983:C:T p.(Gln1883Ter) NC_000003.12:53804983:C:T p.(Gln1883Ter) NC_000003.12:53804983:C:T Identity +NM_001003694.2:c.3263dup NP_001003694.1:p.Leu1089fs NC_000003.12:9745865:CCCC:CCCCC p.(Leu1089AlafsTer23) NC_000003.12:9745865:CCCC:CCCCC p.(Leu1089AlafsTer23) ERR:SPDI Analogous +NM_001330386.2:c.572_573del NP_001317315.1:p.Ser191fs NC_000002.12:73730014:AGAGAG:AGAG p.(Ser191PhefsTer16) NC_000002.12:73730014:AGAGAG:AGAG p.(Ser191PhefsTer16) NC_000002.12:73730014:AG: Analogous +NM_004459.7:c.3190A>G NP_004450.3:p.Thr1064Ala NC_000017.11:67904839:A:G p.(Thr1064Ala) NC_000017.11:67904839:A:G p.(Thr1064Ala) NC_000017.11:67904839:A:G Identity +NM_001378285.1:c.898C>T NP_001365214.1:p.Gln300Ter NC_000003.12:149960855:C:T p.(Gln300Ter) NC_000003.12:149960855:C:T p.(Gln300Ter) NC_000003.12:149960855:C:T Identity +NM_001256324.2:c.2850C>G NP_001243253.1:p.Phe950Leu NC_000017.11:50592031:C:G p.(Phe950Leu) NC_000017.11:50592031:C:G p.(Phe950Leu) NC_000017.11:50592031:C:G Identity +NM_001329533.2:c.893T>C NP_001316462.1:p.Leu298Pro NC_000019.10:1912987:T:C p.(Leu298Pro) NC_000019.10:1912987:T:C p.(Leu298Pro) NC_000019.10:1912987:T:C Identity +NM_001355016.2:c.833C>T NP_001341945.1:p.Ala278Val NC_000005.10:150132851:G:A p.(Ala278Val) NC_000005.10:150132851:G:A p.(Ala278Val) NC_000005.10:150132851:G:A Identity +NM_003482.4:c.9736C>A NP_003473.3:p.Pro3246Thr NC_000012.12:49037619:G:T p.(Pro3246Thr) NC_000012.12:49037619:G:T p.(Pro3246Thr) NC_000012.12:49037619:G:T Identity +NM_000190.4:c.64C>T NP_000181.2:p.Arg22Cys NC_000011.10:119088284:C:T p.(Arg22Cys) NC_000011.10:119088284:C:T p.(Arg22Cys) NC_000011.10:119088284:C:T Identity +NM_033071.5:c.22660G>A NP_149062.2:p.Val7554Met NC_000006.12:152206313:C:T p.(Val7554Met) NC_000006.12:152206313:C:T p.(Val7554Met) NC_000006.12:152206313:C:T Identity +NM_024685.4:c.1230T>G NP_078961.3:p.His410Gln NC_000012.12:76346754:A:C p.(His410Gln) NC_000012.12:76346754:A:C p.(His410Gln) NC_000012.12:76346754:A:C Identity +NM_002470.4:c.82C>T NP_002461.2:p.Gln28Ter NC_000017.11:10654982:G:A p.(Gln28Ter) NC_000017.11:10654982:G:A p.(Gln28Ter) NC_000017.11:10654982:G:A Identity +NM_004004.6:c.585G>C NP_003995.2:p.Met195Ile NC_000013.11:20188996:C:G p.(Met195Ile) NC_000013.11:20188996:C:G p.(Met195Ile) NC_000013.11:20188996:C:G Identity +NM_152594.3:c.916A>T NP_689807.1:p.Lys306Ter NC_000015.10:38351244:A:T p.(Lys306Ter) NC_000015.10:38351244:A:T p.(Lys306Ter) NC_000015.10:38351244:A:T Identity +NM_194302.4:c.2765G>A NP_919278.2:p.Arg922Gln NC_000002.12:219023261:C:T p.(Arg922Gln) NC_000002.12:219023261:C:T p.(Arg922Gln) NC_000002.12:219023261:C:T Identity +NM_001318864.2:c.176G>A NP_001305793.1:p.Arg59Gln NC_000003.12:57105995:C:T p.(Arg59Gln) NC_000003.12:57105995:C:T p.(Arg59Gln) NC_000003.12:57105995:C:T Identity +NM_001114980.2:c.2T>C NP_001108452.1:p.Met1Thr NC_000003.12:189789801:T:C p.(Met1Thr) NC_000003.12:189789801:T:C p.Met1? NC_000003.12:189789801:T:C Identity +NM_003718.5:c.869C>T NP_003709.3:p.Pro290Leu NC_000007.14:39951509:C:T p.(Pro290Leu) NC_000007.14:39951509:C:T p.(Pro290Leu) NC_000007.14:39951509:C:T Identity +NM_152594.3:c.43G>A NP_689807.1:p.Ala15Thr NC_000015.10:38299382:G:A p.(Ala15Thr) NC_000015.10:38299382:G:A p.(Ala15Thr) NC_000015.10:38299382:G:A Identity +NM_001160130.2:c.560G>A NP_001153602.1:p.Arg187Gln NC_000006.12:73042005:G:A p.(Arg187Gln) NC_000006.12:73042005:G:A p.(Arg187Gln) NC_000006.12:73042005:G:A Identity +NM_013436.5:c.629T>C NP_038464.1:p.Leu210Pro NC_000002.12:182995812:A:G p.(Leu210Pro) NC_000002.12:182995812:A:G p.(Leu210Pro) NC_000002.12:182995812:A:G Identity +NM_001001935.3:c.1021G>A NP_001001935.1:p.Gly341Arg NC_000018.10:46087012:C:T p.(Gly341Arg) NC_000018.10:46087012:C:T p.(Gly341Arg) NC_000018.10:46087012:C:T Identity +NM_017780.4:c.3323A>G NP_060250.2:p.His1108Arg NC_000008.11:60823960:A:G p.(His1108Arg) NC_000008.11:60823960:A:G p.(His1108Arg) NC_000008.11:60823960:A:G Identity +NM_001354989.2:c.3298T>C NP_001341918.1:p.Phe1100Leu NC_000005.10:180614100:A:G p.(Phe1100Leu) NC_000005.10:180614100:A:G p.(Phe1100Leu) NC_000005.10:180614100:A:G Identity +NM_000390.4:c.469del NP_000381.1:p.Gln157fs NC_000023.11:85963897:G: p.(Gln157LysfsTer11) NC_000023.11:85963897:G: p.(Gln157LysfsTer11) NC_000023.11:85963897:G: Analogous +NM_001394998.1:c.5312G>T NP_001381927.1:p.Cys1771Phe NC_000017.11:63421041:G:T p.(Cys1771Phe) NC_000017.11:63421041:G:T p.(Cys1771Phe) NC_000017.11:63421041:G:T Identity +NM_005609.4:c.2448dup NP_005600.1:p.Thr817fs NC_000011.10:64746739:G:GG p.(Thr817HisfsTer24) NC_000011.10:64746739:G:GG p.(Thr817HisfsTer24) ERR:SPDI Analogous +NM_001168388.3:c.524C>T NP_001161860.1:p.Thr175Ile NC_000006.12:139373420:G:A p.(Thr175Ile) NC_000006.12:139373420:G:A p.(Thr175Ile) NC_000006.12:139373420:G:A Identity +NM_001256532.1:c.884C>T NP_001243461.1:p.Ser295Phe NC_000001.11:155612487:C:T p.(Ser295Phe) NC_000001.11:155612487:C:T p.(Ser295Phe) NC_000001.11:155612487:C:T Identity +NM_001384732.1:c.4739T>C NP_001371661.1:p.Phe1580Ser NC_000005.10:37183441:A:G p.(Phe1580Ser) NC_000005.10:37183441:A:G p.(Phe1580Ser) NC_000005.10:37183441:A:G Identity +NM_001270399.2:c.609G>A NP_001257328.1:p.Met203Ile NC_000012.12:49185756:C:T p.(Met203Ile) NC_000012.12:49185756:C:T p.(Met203Ile) NC_000012.12:49185756:C:T Identity +NM_024496.4:c.1489C>T NP_078772.1:p.Gln497Ter NC_000014.9:77026303:G:A p.(Gln497Ter) NC_000014.9:77026303:G:A p.(Gln497Ter) NC_000014.9:77026303:G:A Identity +NM_001297778.1:c.466G>A NP_001284707.1:p.Gly156Arg NC_000001.11:9982326:G:A p.(Gly156Arg) NC_000001.11:9982326:G:A p.(Gly156Arg) NC_000001.11:9982326:G:A Identity +NM_001257361.2:c.79dup NP_001244290.1:p.Tyr27fs NC_000001.11:109625709:T:TT p.(Tyr27LeufsTer2) NC_000001.11:109625709:T:TT p.(Tyr27LeufsTer2) ERR:SPDI Analogous +NM_001277269.2:c.6287G>A NP_001264198.1:p.Arg2096Gln NC_000011.10:17612288:G:A p.(Arg2096Gln) NC_000011.10:17612288:G:A p.(Arg2096Gln) NC_000011.10:17612288:G:A Identity +NM_001039937.2:c.1568T>A NP_001035026.1:p.Leu523Ter NC_000013.11:51376169:A:T p.(Leu523Ter) NC_000013.11:51376169:A:T p.(Leu523Ter) NC_000013.11:51376169:A:T Identity +NM_001256850.1:c.1517T>A NP_001243779.1:p.Met506Lys NC_000002.12:178793422:A:T p.(Met506Lys) NC_000002.12:178793422:A:T p.(Met506Lys) NC_000002.12:178793422:A:T Identity +NM_016219.5:c.1363G>A NP_057303.2:p.Val455Ile NC_000009.12:137106232:G:A p.(Val455Ile) NC_000009.12:137106232:G:A p.(Val455Ile) NC_000009.12:137106232:G:A Identity +NM_001082486.2:c.980C>G NP_001075955.2:p.Thr327Ser NC_000016.10:67658211:G:C p.(Thr327Ser) NC_000016.10:67658211:G:C p.(Thr327Ser) NC_000016.10:67658211:G:C Identity +NM_000153.4:c.718G>A NP_000144.2:p.Asp240Asn NC_000014.9:87976391:C:T p.(Asp240Asn) NC_000014.9:87976391:C:T p.(Asp240Asn) NC_000014.9:87976391:C:T Identity +NM_001083962.2:c.1196T>C NP_001077431.1:p.Val399Ala NC_000018.10:55254650:A:G p.(Val399Ala) NC_000018.10:55254650:A:G p.(Val399Ala) NC_000018.10:55254650:A:G Identity +NM_016580.4:c.1182C>A NP_057664.1:p.Ser394Arg NC_000005.10:141956669:G:T p.(Ser394Arg) NC_000005.10:141956669:G:T p.(Ser394Arg) NC_000005.10:141956669:G:T Identity +NM_001202543.2:c.2113T>G NP_001189472.1:p.Ser705Ala NC_000007.14:102201376:T:G p.(Ser705Ala) NC_000007.14:102201376:T:G p.(Ser705Ala) NC_000007.14:102201376:T:G Identity +NM_001135241.3:c.364G>A NP_001128713.1:p.Val122Ile NC_000010.11:5000554:C:T p.(Val122Ile) NC_000010.11:5000554:C:T p.(Val122Ile) NC_000010.11:5000554:C:T Identity +NM_001303496.3:c.4512T>G NP_001290425.1:p.Asn1504Lys NC_000007.14:93131459:A:C p.(Asn1504Lys) NC_000007.14:93131459:A:C p.(Asn1504Lys) NC_000007.14:93131459:A:C Identity +NM_001017423.2:c.1475C>T NP_001017423.1:p.Ala492Val NC_000010.11:95616600:G:A p.(Ala492Val) NC_000010.11:95616600:G:A p.(Ala492Val) NC_000010.11:95616600:G:A Identity +NM_000720.4:c.4923A>T NP_000711.1:p.Lys1641Asn NC_000003.12:53786891:A:T p.(Lys1641Asn) NC_000003.12:53786891:A:T p.(Lys1641Asn) NC_000003.12:53786891:A:T Identity +NM_001267623.2:c.248A>G NP_001254552.1:p.Asp83Gly NC_000020.11:3218591:A:G p.(Asp83Gly) NC_000020.11:3218591:A:G p.(Asp83Gly) NC_000020.11:3218591:A:G Identity +NM_001376.5:c.7981T>G NP_001367.2:p.Leu2661Val NC_000014.9:102017219:T:G p.(Leu2661Val) NC_000014.9:102017219:T:G p.(Leu2661Val) NC_000014.9:102017219:T:G Identity +NM_001164750.2:c.110T>C NP_001158222.1:p.Val37Ala NC_000008.11:61684094:A:G p.(Val37Ala) NC_000008.11:61684094:A:G p.(Val37Ala) NC_000008.11:61684094:A:G Identity +NM_001293306.2:c.5368C>G NP_001280235.2:p.Pro1790Ala NC_000003.12:38697848:G:C p.(Pro1790Ala) NC_000003.12:38697848:G:C p.(Pro1790Ala) NC_000003.12:38697848:G:C Identity +NM_020699.4:c.983C>T NP_065750.1:p.Thr328Met NC_000001.11:153816505:G:A p.(Thr328Met) NC_000001.11:153816505:G:A p.(Thr328Met) NC_000001.11:153816505:G:A Identity +NM_000208.4:c.784G>A NP_000199.2:p.Gly262Ser NC_000019.10:7184505:C:T p.(Gly262Ser) NC_000019.10:7184505:C:T p.(Gly262Ser) NC_000019.10:7184505:C:T Identity +NM_001206999.2:c.845T>C NP_001193928.1:p.Leu282Pro NC_000012.12:119825276:A:G p.(Leu282Pro) NC_000012.12:119825276:A:G p.(Leu282Pro) NC_000012.12:119825276:A:G Identity +NM_001256182.2:c.4970C>T NP_001243111.1:p.Ser1657Leu NC_000016.10:89281571:G:A p.(Ser1657Leu) NC_000016.10:89281571:G:A p.(Ser1657Leu) NC_000016.10:89281571:G:A Identity +NM_001252127.2:c.1522G>T NP_001239056.1:p.Asp508Tyr NC_000015.10:50958689:G:T p.(Asp508Tyr) NC_000015.10:50958689:G:T p.(Asp508Tyr) NC_000015.10:50958689:G:T Identity +NM_001306129.2:c.5237C>T NP_001293058.2:p.Pro1746Leu NC_000002.12:215381007:G:A p.(Pro1746Leu) NC_000002.12:215381007:G:A p.(Pro1746Leu) NC_000002.12:215381007:G:A Identity +NM_000340.2:c.589G>C NP_000331.1:p.Val197Leu NC_000003.12:171007170:C:G p.(Val197Leu) NC_000003.12:171007170:C:G p.(Val197Leu) NC_000003.12:171007170:C:G Identity +NM_005188.4:c.911C>G NP_005179.2:p.Ala304Gly NC_000011.10:119276037:C:G p.(Ala304Gly) NC_000011.10:119276037:C:G p.(Ala304Gly) NC_000011.10:119276037:C:G Identity +NM_006231.4:c.1259G>A NP_006222.2:p.Gly420Asp NC_000012.12:132673674:C:T p.(Gly420Asp) NC_000012.12:132673674:C:T p.(Gly420Asp) NC_000012.12:132673674:C:T Identity +NM_001195302.2:c.335G>C NP_001182231.1:p.Arg112Pro NC_000016.10:58009997:G:C p.(Arg112Pro) NC_000016.10:58009997:G:C p.(Arg112Pro) NC_000016.10:58009997:G:C Identity +NM_001160372.4:c.2343G>T NP_001153844.1:p.Gln781His NC_000008.11:140252864:C:A p.(Gln781His) NC_000008.11:140252864:C:A p.(Gln781His) NC_000008.11:140252864:C:A Identity +NM_001127897.4:c.2038C>T NP_001121369.1:p.Leu680Phe NC_000016.10:53652648:G:A p.(Leu680Phe) NC_000016.10:53652648:G:A p.(Leu680Phe) NC_000016.10:53652648:G:A Identity +NM_000059.4:c.484G>A NP_000050.3:p.Gly162Arg NC_000013.11:32326249:G:A p.(Gly162Arg) NC_000013.11:32326249:G:A p.(Gly162Arg) NC_000013.11:32326249:G:A Identity +NM_003482.4:c.14839C>T NP_003473.3:p.Pro4947Ser NC_000012.12:49027126:G:A p.(Pro4947Ser) NC_000012.12:49027126:G:A p.(Pro4947Ser) NC_000012.12:49027126:G:A Identity +NM_001351273.1:c.4271G>A NP_001338202.1:p.Arg1424Lys NC_000019.10:1467574:G:A p.(Arg1424Lys) NC_000019.10:1467574:G:A p.(Arg1424Lys) NC_000019.10:1467574:G:A Identity +NM_016589.4:c.707G>T NP_057673.2:p.Trp236Leu NC_000003.12:119517314:G:T p.(Trp236Leu) NC_000003.12:119517314:G:T p.(Trp236Leu) NC_000003.12:119517314:G:T Identity +NM_001354615.2:c.161G>T NP_001341544.1:p.Ser54Ile NC_000003.12:37017598:G:T p.(Ser54Ile) NC_000003.12:37017598:G:T p.(Ser54Ile) NC_000003.12:37017598:G:T Identity +NM_001079821.3:c.1960A>G NP_001073289.2:p.Asn654Asp NC_000001.11:247425408:A:G p.(Asn654Asp) NC_000001.11:247425408:A:G p.(Asn654Asp) NC_000001.11:247425408:A:G Identity +NM_001391943.1:c.158A>G NP_001378872.1:p.Tyr53Cys NC_000011.10:60871238:A:G p.(Tyr53Cys) NC_000011.10:60871238:A:G p.(Tyr53Cys) NC_000011.10:60871238:A:G Identity +NM_173651.4:c.9557del NP_775922.3:p.Thr3186fs NC_000002.12:185796692:C: p.(Thr3186MetfsTer11) NC_000002.12:185796692:C: p.(Thr3186MetfsTer11) NC_000002.12:185796692:C: Analogous +NM_007118.4:c.8501G>A NP_009049.2:p.Arg2834His NC_000005.10:14504481:G:A p.(Arg2834His) NC_000005.10:14504481:G:A p.(Arg2834His) NC_000005.10:14504481:G:A Identity +NM_006295.3:c.1610G>A NP_006286.1:p.Arg537Gln NC_000006.12:31784274:C:T p.(Arg537Gln) NC_000006.12:31784274:C:T p.(Arg537Gln) NC_000006.12:31784274:C:T Identity +NM_001193455.2:c.1841C>T NP_001180384.1:p.Ala614Val NC_000005.10:6604148:G:A p.(Ala614Val) NC_000005.10:6604148:G:A p.(Ala614Val) NC_000005.10:6604148:G:A Identity +NM_030665.4:c.5470G>C NP_109590.3:p.Val1824Leu NC_000017.11:17798417:G:C p.(Val1824Leu) NC_000017.11:17798417:G:C p.(Val1824Leu) NC_000017.11:17798417:G:C Identity +NM_000136.3:c.691A>G NP_000127.2:p.Lys231Glu NC_000009.12:95135497:T:C p.(Lys231Glu) NC_000009.12:95135497:T:C p.(Lys231Glu) NC_000009.12:95135497:T:C Identity +NM_005188.4:c.2047G>A NP_005179.2:p.Val683Met NC_000011.10:119296927:G:A p.(Val683Met) NC_000011.10:119296927:G:A p.(Val683Met) NC_000011.10:119296927:G:A Identity +NM_001320893.1:c.929C>T NP_001307822.1:p.Ala310Val NC_000002.12:25246203:G:A p.(Ala310Val) NC_000002.12:25246203:G:A p.(Ala310Val) NC_000002.12:25246203:G:A Identity +NM_000439.5:c.2129C>G NP_000430.3:p.Pro710Arg NC_000005.10:96393133:G:C p.(Pro710Arg) NC_000005.10:96393133:G:C p.(Pro710Arg) NC_000005.10:96393133:G:C Identity +NM_000760.4:c.1867G>T NP_000751.1:p.Gly623Trp NC_000001.11:36467648:C:A p.(Gly623Trp) NC_000001.11:36467648:C:A p.(Gly623Trp) NC_000001.11:36467648:C:A Identity +NM_001310326.2:c.419G>T NP_001297255.1:p.Gly140Val NC_000001.11:202331919:C:A p.(Gly140Val) NC_000001.11:202331919:C:A p.(Gly140Val) NC_000001.11:202331919:C:A Identity +NM_000051.4:c.242A>G NP_000042.3:p.Asn81Ser NC_000011.10:108229233:A:G p.(Asn81Ser) NC_000011.10:108229233:A:G p.(Asn81Ser) NC_000011.10:108229233:A:G Identity +NM_005188.4:c.2482C>T NP_005179.2:p.Pro828Ser NC_000011.10:119299541:C:T p.(Pro828Ser) NC_000011.10:119299541:C:T p.(Pro828Ser) NC_000011.10:119299541:C:T Identity +NM_001012339.3:c.932A>G NP_001012339.2:p.Tyr311Cys NC_000005.10:34941131:A:G p.(Tyr311Cys) NC_000005.10:34941131:A:G p.(Tyr311Cys) NC_000005.10:34941131:A:G Identity +NM_001042594.2:c.440T>C NP_001036059.1:p.Leu147Ser NC_000007.14:124853007:A:G p.(Leu147Ser) NC_000007.14:124853007:A:G p.(Leu147Ser) NC_000007.14:124853007:A:G Identity +NM_001040142.2:c.4386C>G NP_001035232.1:p.Phe1462Leu NC_000002.12:165380668:C:G p.(Phe1462Leu) NC_000002.12:165380668:C:G p.(Phe1462Leu) NC_000002.12:165380668:C:G Identity +NM_000534.5:c.2612G>A NP_000525.1:p.Arg871His NC_000002.12:189873633:G:A p.(Arg871His) NC_000002.12:189873633:G:A p.(Arg871His) NC_000002.12:189873633:G:A Identity +NM_001193307.2:c.2611G>T NP_001180236.1:p.Glu871Ter NC_000007.14:93103486:C:A p.(Glu871Ter) NC_000007.14:93103486:C:A p.(Glu871Ter) NC_000007.14:93103486:C:A Identity +NM_001321307.1:c.3367A>G NP_001308236.1:p.Lys1123Glu NC_000011.10:108161739:T:C p.(Lys1123Glu) NC_000011.10:108161739:T:C p.(Lys1123Glu) NC_000011.10:108161739:T:C Identity +NM_001283009.2:c.1601_1602delinsTT NP_001269938.1:p.Ser534Phe NC_000020.11:63688143:CC:TT p.(Ser534Phe) NC_000020.11:63688143:CC:TT p.(Ser534Phe) NC_000020.11:63688143:CC:TT Identity +NM_001220765.3:c.191A>G NP_001207694.1:p.Asp64Gly NC_000007.14:50376562:A:G p.(Asp64Gly) NC_000007.14:50376562:A:G p.(Asp64Gly) NC_000007.14:50376562:A:G Identity +NM_001099274.3:c.1093A>G NP_001092744.1:p.Arg365Gly NC_000014.9:24240298:T:C p.(Arg365Gly) NC_000014.9:24240298:T:C p.(Arg365Gly) NC_000014.9:24240298:T:C Identity +NM_001193307.2:c.4166T>C NP_001180236.1:p.Ile1389Thr NC_000007.14:93101931:A:G p.(Ile1389Thr) NC_000007.14:93101931:A:G p.(Ile1389Thr) NC_000007.14:93101931:A:G Identity +NM_005257.6:c.25T>A NP_005248.2:p.Cys9Ser NC_000018.10:22171168:T:A p.(Cys9Ser) NC_000018.10:22171168:T:A p.(Cys9Ser) NC_000018.10:22171168:T:A Identity +NM_016343.4:c.8509G>A NP_057427.3:p.Asp2837Asn NC_000001.11:214656955:G:A p.(Asp2837Asn) NC_000001.11:214656955:G:A p.(Asp2837Asn) NC_000001.11:214656955:G:A Identity +NM_025099.6:c.2345G>C NP_079375.3:p.Gly782Ala NC_000017.11:8231942:C:G p.(Gly782Ala) NC_000017.11:8231942:C:G p.(Gly782Ala) NC_000017.11:8231942:C:G Identity +NM_001987.5:c.196G>A NP_001978.1:p.Val66Ile NC_000012.12:11839171:G:A p.(Val66Ile) NC_000012.12:11839171:G:A p.(Val66Ile) NC_000012.12:11839171:G:A Identity +NM_000352.6:c.2825C>G NP_000343.2:p.Thr942Ser NC_000011.10:17407448:G:C p.(Thr942Ser) NC_000011.10:17407448:G:C p.(Thr942Ser) NC_000011.10:17407448:G:C Identity +NM_000315.4:c.46_47delinsAA NP_000306.1:p.Ala16Lys NC_000011.10:13492808:GC:TT p.(Ala16Lys) NC_000011.10:13492808:GC:TT p.(Ala16Lys) NC_000011.10:13492808:GC:TT Identity +NM_001143990.2:c.1558G>T NP_001137462.1:p.Gly520Trp NC_000017.11:7703396:G:T p.(Gly520Trp) NC_000017.11:7703396:G:T p.(Gly520Trp) NC_000017.11:7703396:G:T Identity +NM_001271667.2:c.233A>C NP_001258596.1:p.Lys78Thr NC_000006.12:15615278:T:G p.(Lys78Thr) NC_000006.12:15615278:T:G p.(Lys78Thr) NC_000006.12:15615278:T:G Identity +NM_000508.5:c.1406T>G NP_000499.1:p.Val469Gly NC_000004.12:154586022:A:C p.(Val469Gly) NC_000004.12:154586022:A:C p.(Val469Gly) NC_000004.12:154586022:A:C Identity +NM_020207.7:c.4540A>G NP_064592.3:p.Arg1514Gly NC_000009.12:96013089:A:G p.(Arg1514Gly) NC_000009.12:96013089:A:G p.(Arg1514Gly) NC_000009.12:96013089:A:G Identity +NM_001127215.3:c.864G>A NP_001120687.1:p.Met288Ile NC_000001.11:92480407:C:T p.(Met288Ile) NC_000001.11:92480407:C:T p.(Met288Ile) NC_000001.11:92480407:C:T Identity +NM_001276270.2:c.1372A>G NP_001263199.1:p.Ile458Val NC_000003.12:129433870:T:C p.(Ile458Val) NC_000003.12:129433870:T:C p.(Ile458Val) NC_000003.12:129433870:T:C Identity +NM_001322194.2:c.931G>A NP_001309123.1:p.Glu311Lys NC_000009.12:5054878:G:A p.(Glu311Lys) NC_000009.12:5054878:G:A p.(Glu311Lys) NC_000009.12:5054878:G:A Identity +NM_001322194.2:c.3162T>A NP_001309123.1:p.Ser1054Arg NC_000009.12:5123105:T:A p.(Ser1054Arg) NC_000009.12:5123105:T:A p.(Ser1054Arg) NC_000009.12:5123105:T:A Identity +LRG_1118t1:c.1587G>A LRG_1118p1:p.Met529Ile NC_000003.12:169116284:C:T ERR:Data provider error: ValueError: Transcript LRG_1118t1 not found ERR:Data provider error: ValueError: Transcript LRG_1118t1 not found ERR:AlignmentMapper(tx_ac=LRG_1118t1, alt_ac=LRG_1118t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1118t1, alt_ac=LRG_1118t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1118t1 not found +NM_001362843.2:c.5432G>A NP_001349772.1:p.Arg1811Gln NC_000022.11:41177220:G:A p.(Arg1811Gln) NC_000022.11:41177220:G:A p.(Arg1811Gln) NC_000022.11:41177220:G:A Identity +NM_021120.4:c.94G>A NP_066943.2:p.Asp32Asn NC_000023.11:70445294:G:A p.(Asp32Asn) NC_000023.11:70445294:G:A p.(Asp32Asn) NC_000023.11:70445294:G:A Identity +NM_001164690.2:c.1216C>T NP_001158162.1:p.Arg406Ter NC_000012.12:53429905:C:T p.(Arg406Ter) NC_000012.12:53429905:C:T p.(Arg406Ter) NC_000012.12:53429905:C:T Identity +NM_000352.6:c.3290A>C NP_000343.2:p.His1097Pro NC_000011.10:17406660:T:G p.(His1097Pro) NC_000011.10:17406660:T:G p.(His1097Pro) NC_000011.10:17406660:T:G Identity +NM_001024688.3:c.403G>A NP_001019859.1:p.Glu135Lys NC_000008.11:89971225:C:T p.(Glu135Lys) NC_000008.11:89971225:C:T p.(Glu135Lys) NC_000008.11:89971225:C:T Identity +NM_001193376.3:c.2314T>C NP_001180305.1:p.Tyr772His NC_000005.10:1272252:A:G p.(Tyr772His) NC_000005.10:1272252:A:G p.(Tyr772His) NC_000005.10:1272252:A:G Identity +NM_006015.6:c.666C>G NP_006006.3:p.Tyr222Ter NC_000001.11:26697068:C:G p.(Tyr222Ter) NC_000001.11:26697068:C:G p.(Tyr222Ter) NC_000001.11:26697068:C:G Identity +LRG_1340t1:c.6245del LRG_1340p1:p.Leu2082fs NC_000023.11:154352905:A: ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1340t1, alt_ac=LRG_1340t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1340t1 not found +NM_004523.4:c.2105del NP_004514.2:p.Lys702fs NC_000010.11:92637486:AAAA:AAA p.(Lys702SerfsTer6) NC_000010.11:92637486:AAAA:AAA p.(Lys702SerfsTer6) NC_000010.11:92637489:A: Analogous +NM_006517.5:c.325T>C NP_006508.2:p.Trp109Arg NC_000023.11:74421961:T:C p.(Trp109Arg) NC_000023.11:74421961:T:C p.(Trp109Arg) NC_000023.11:74421961:T:C Identity +NM_000020.3:c.139C>T NP_000011.2:p.Arg47Trp NC_000012.12:51913175:C:T p.(Arg47Trp) NC_000012.12:51913175:C:T p.(Arg47Trp) NC_000012.12:51913175:C:T Identity +NM_199242.3:c.545_546delinsTT NP_954712.1:p.Pro182Leu NC_000017.11:75842455:GG:AA p.(Pro182Leu) NC_000017.11:75842455:GG:AA p.(Pro182Leu) NC_000017.11:75842455:GG:AA Identity +NM_000965.5:c.881G>T NP_000956.2:p.Gly294Val NC_000003.12:25593596:G:T p.(Gly294Val) NC_000003.12:25593596:G:T p.(Gly294Val) NC_000003.12:25593596:G:T Identity +NM_001289156.2:c.973G>C NP_001276085.1:p.Gly325Arg NC_000015.10:74897580:G:C p.(Gly325Arg) NC_000015.10:74897580:G:C p.(Gly325Arg) NC_000015.10:74897580:G:C Identity +NM_021784.5:c.890C>T NP_068556.2:p.Ala297Val NC_000020.11:22582351:G:A p.(Ala297Val) NC_000020.11:22582351:G:A p.(Ala297Val) NC_000020.11:22582351:G:A Identity +NM_001129820.2:c.1108G>A NP_001123292.1:p.Ala370Thr NC_000017.11:35554656:C:T p.(Ala370Thr) NC_000017.11:35554656:C:T p.(Ala370Thr) NC_000017.11:35554656:C:T Identity +NM_001352773.2:c.745A>C NP_001339702.1:p.Thr249Pro NC_000017.11:41767542:T:G p.(Thr249Pro) NC_000017.11:41767542:T:G p.(Thr249Pro) NC_000017.11:41767542:T:G Identity +NM_001284214.2:c.488A>T NP_001271143.1:p.Gln163Leu NC_000002.12:229859310:T:A p.(Gln163Leu) NC_000002.12:229859310:T:A p.(Gln163Leu) NC_000002.12:229859310:T:A Identity +NM_001313741.1:c.2194G>C NP_001300670.1:p.Ala732Pro NC_000013.11:25699274:G:C p.(Ala732Pro) NC_000013.11:25699274:G:C p.(Ala732Pro) NC_000013.11:25699274:G:C Identity +NM_000494.4:c.509C>A NP_000485.3:p.Ser170Ter NC_000010.11:104070523:G:T p.(Ser170Ter) NC_000010.11:104070523:G:T p.(Ser170Ter) NC_000010.11:104070523:G:T Identity +NM_006767.4:c.577T>C NP_006758.2:p.Tyr193His NC_000022.11:20988855:T:C p.(Tyr193His) NC_000022.11:20988855:T:C p.(Tyr193His) NC_000022.11:20988855:T:C Identity +NM_001286506.2:c.523C>T NP_001273435.1:p.Gln175Ter NC_000021.9:42477380:G:A p.(Gln175Ter) NC_000021.9:42477380:G:A p.(Gln175Ter) NC_000021.9:42477380:G:A Identity +NM_003922.4:c.14138C>T NP_003913.3:p.Pro4713Leu NC_000015.10:63612512:G:A p.(Pro4713Leu) NC_000015.10:63612512:G:A p.(Pro4713Leu) NC_000015.10:63612512:G:A Identity +NM_033109.5:c.1795T>A NP_149100.2:p.Ser599Thr NC_000002.12:55645375:A:T p.(Ser599Thr) NC_000002.12:55645375:A:T p.(Ser599Thr) NC_000002.12:55645375:A:T Identity +NM_000827.4:c.1412C>T NP_000818.2:p.Thr471Met NC_000005.10:153699032:C:T p.(Thr471Met) NC_000005.10:153699032:C:T p.(Thr471Met) NC_000005.10:153699032:C:T Identity +NM_001286745.3:c.374G>T NP_001273674.1:p.Gly125Val NC_000008.11:91080716:G:T p.(Gly125Val) NC_000008.11:91080716:G:T p.(Gly125Val) NC_000008.11:91080716:G:T Identity +NM_001040142.2:c.2764C>T NP_001035232.1:p.Arg922Cys NC_000002.12:165344755:C:T p.(Arg922Cys) NC_000002.12:165344755:C:T p.(Arg922Cys) NC_000002.12:165344755:C:T Identity +NM_001204.7:c.967G>A NP_001195.2:p.Asp323Asn NC_000002.12:202520200:G:A p.(Asp323Asn) NC_000002.12:202520200:G:A p.(Asp323Asn) NC_000002.12:202520200:G:A Identity +NM_001393500.2:c.74G>A NP_001380429.1:p.Arg25Gln NC_000011.10:72106024:G:A p.(Arg25Gln) NC_000011.10:72106024:G:A p.(Arg25Gln) NC_000011.10:72106024:G:A Identity +NM_014865.4:c.2508del NP_055680.3:p.Phe837fs NC_000012.12:6526306:CCCCCCC:CCCCCC p.(Phe837SerfsTer36) NC_000012.12:6526306:CCCCCCC:CCCCCC p.(Phe837SerfsTer36) NC_000012.12:6526312:C: Analogous +NM_207346.3:c.197T>C NP_997229.2:p.Leu66Pro NC_000017.11:75516885:T:C p.(Leu66Pro) NC_000017.11:75516885:T:C p.(Leu66Pro) NC_000017.11:75516885:T:C Identity +NM_022168.4:c.1988T>G NP_071451.2:p.Leu663Ter NC_000002.12:162277470:A:C p.(Leu663Ter) NC_000002.12:162277470:A:C p.(Leu663Ter) NC_000002.12:162277470:A:C Identity +NM_001330540.2:c.272_288delinsCTGGGGCTGG NP_001317469.1:p.Val91fs NC_000001.11:45508808:TGTGCATACACCCCCGA:CTGGGGCTGG p.(Cys92TrpfsTer13) NC_000001.11:45508808:TGTGCATACACCCCCGAT:TCTGGGGCTGG p.(Val91AlafsTer14) NC_000001.11:45508808:TGTGCATACACCCCCGA:CTGGGGCTGG Analogous +NM_001365276.2:c.7338G>C NP_001352205.1:p.Lys2446Asn NC_000006.12:32061550:C:G p.(Lys2446Asn) NC_000006.12:32061550:C:G p.(Lys2446Asn) NC_000006.12:32061550:C:G Identity +NM_000359.3:c.844C>T NP_000350.1:p.Gln282Ter NC_000014.9:24259971:G:A p.(Gln282Ter) NC_000014.9:24259971:G:A p.(Gln282Ter) NC_000014.9:24259971:G:A Identity +NM_005912.3:c.258G>T NP_005903.2:p.Leu86Phe NC_000018.10:60372091:C:A p.(Leu86Phe) NC_000018.10:60372091:C:A p.(Leu86Phe) NC_000018.10:60372091:C:A Identity +NM_004329.3:c.893G>A NP_004320.2:p.Gly298Asp NC_000010.11:86919195:G:A p.(Gly298Asp) NC_000010.11:86919195:G:A p.(Gly298Asp) NC_000010.11:86919195:G:A Identity +NM_000181.4:c.1145G>A NP_000172.2:p.Arg382His NC_000007.14:65974624:C:T p.(Arg382His) NC_000007.14:65974624:C:T p.(Arg382His) NC_000007.14:65974624:C:T Identity +NM_139058.3:c.946G>T NP_620689.1:p.Gly316Cys NC_000023.11:25013048:C:A p.(Gly316Cys) NC_000023.11:25013048:C:A p.(Gly316Cys) NC_000023.11:25013048:C:A Identity +NM_020247.5:c.1717G>A NP_064632.2:p.Asp573Asn NC_000001.11:226986509:G:A p.(Asp573Asn) NC_000001.11:226986509:G:A p.(Asp573Asn) NC_000001.11:226986509:G:A Identity +NM_001321120.2:c.380A>C NP_001308049.1:p.Tyr127Ser NC_000017.11:61465916:A:C p.(Tyr127Ser) NC_000017.11:61465916:A:C p.(Tyr127Ser) NC_000017.11:61465916:A:C Identity +NM_000158.4:c.563A>C NP_000149.4:p.His188Pro NC_000003.12:81648983:T:G p.(His188Pro) NC_000003.12:81648983:T:G p.(His188Pro) NC_000003.12:81648983:T:G Identity +NM_001256182.2:c.1459G>T NP_001243111.1:p.Glu487Ter NC_000016.10:89285082:C:A p.(Glu487Ter) NC_000016.10:89285082:C:A p.(Glu487Ter) NC_000016.10:89285082:C:A Identity +NM_030632.3:c.4826G>A NP_085135.1:p.Trp1609Ter NC_000018.10:33744673:G:A p.(Trp1609Ter) NC_000018.10:33744673:G:A p.(Trp1609Ter) NC_000018.10:33744673:G:A Identity +NM_001013839.4:c.1664G>A NP_001013861.1:p.Arg555His NC_000017.11:76085361:C:T p.(Arg555His) NC_000017.11:76085361:C:T p.(Arg555His) NC_000017.11:76085361:C:T Identity +NM_000138.5:c.6787A>C NP_000129.3:p.Met2263Leu NC_000015.10:48430754:T:G p.(Met2263Leu) NC_000015.10:48430754:T:G p.(Met2263Leu) NC_000015.10:48430754:T:G Identity +NM_001291866.2:c.412G>C NP_001278795.1:p.Asp138His NC_000001.11:230236404:G:C p.(Asp138His) NC_000001.11:230236404:G:C p.(Asp138His) NC_000001.11:230236404:G:C Identity +NM_001363711.2:c.3033C>A NP_001350640.1:p.Tyr1011Ter NC_000015.10:45100200:G:T p.(Tyr1011Ter) NC_000015.10:45100200:G:T p.(Tyr1011Ter) NC_000015.10:45100200:G:T Identity +NM_001350246.2:c.887C>A NP_001337175.1:p.Thr296Lys NC_000001.11:243418012:C:A p.(Thr296Lys) NC_000001.11:243418012:C:A p.(Thr296Lys) NC_000001.11:243418012:C:A Identity +NM_001008537.3:c.1021G>A NP_001008537.1:p.Val341Ile NC_000023.11:74743535:C:T p.(Val341Ile) NC_000023.11:74743535:C:T p.(Val341Ile) NC_000023.11:74743535:C:T Identity +NM_000091.5:c.2711G>T NP_000082.2:p.Gly904Val NC_000002.12:227283820:G:T p.(Gly904Val) NC_000002.12:227283820:G:T p.(Gly904Val) NC_000002.12:227283820:G:T Identity +NM_000719.7:c.1138T>G NP_000710.5:p.Trp380Gly NC_000012.12:2504865:T:G p.(Trp380Gly) NC_000012.12:2504865:T:G p.(Trp380Gly) NC_000012.12:2504865:T:G Identity +NM_001306129.2:c.833C>G NP_001293058.2:p.Thr278Ser NC_000002.12:215428190:G:C p.(Thr278Ser) NC_000002.12:215428190:G:C p.(Thr278Ser) NC_000002.12:215428190:G:C Identity +NM_001300909.2:c.268G>A NP_001287838.1:p.Asp90Asn NC_000011.10:68185820:C:T p.(Asp90Asn) NC_000011.10:68185820:C:T p.(Asp90Asn) NC_000011.10:68185820:C:T Identity +NM_005035.4:c.1923C>G NP_005026.3:p.Phe641Leu NC_000019.10:621774:G:C p.(Phe641Leu) NC_000019.10:621774:G:C p.(Phe641Leu) NC_000019.10:621774:G:C Identity +NM_001277269.2:c.7204C>T NP_001264198.1:p.Pro2402Ser NC_000011.10:17633774:C:T p.(Pro2402Ser) NC_000011.10:17633774:C:T p.(Pro2402Ser) NC_000011.10:17633774:C:T Identity +NM_001111125.3:c.3439C>A NP_001104595.1:p.Leu1147Ile NC_000023.11:53236333:G:T p.(Leu1147Ile) NC_000023.11:53236333:G:T p.(Leu1147Ile) NC_000023.11:53236333:G:T Identity +NM_001005388.3:c.3673G>A NP_001005388.2:p.Glu1225Lys NC_000001.11:205016488:G:A p.(Glu1225Lys) NC_000001.11:205016488:G:A p.(Glu1225Lys) NC_000001.11:205016488:G:A Identity +NM_001007026.2:c.2611A>G NP_001007027.1:p.Thr871Ala NC_000012.12:6938573:A:G p.(Thr871Ala) NC_000012.12:6938573:A:G p.(Thr871Ala) NC_000012.12:6938573:A:G Identity +NM_013393.3:c.242C>T NP_037525.1:p.Ala81Val NC_000007.14:2239473:G:A p.(Ala81Val) NC_000007.14:2239473:G:A p.(Ala81Val) NC_000007.14:2239473:G:A Identity +NM_000261.2:c.1130C>T NP_000252.1:p.Thr377Met NC_000001.11:171636309:G:A p.(Thr377Met) NC_000001.11:171636309:G:A p.(Thr377Met) NC_000001.11:171636309:G:A Identity +NM_005993.5:c.907C>T NP_005984.3:p.Arg303Ter NC_000017.11:82800952:C:T p.(Arg303Ter) NC_000017.11:82800952:C:T p.(Arg303Ter) NC_000017.11:82800952:C:T Identity +NM_004994.3:c.1222G>A NP_004985.2:p.Gly408Ser NC_000020.11:46012473:G:A p.(Gly408Ser) NC_000020.11:46012473:G:A p.(Gly408Ser) NC_000020.11:46012473:G:A Identity +NM_001324255.2:c.3565G>A NP_001311184.1:p.Asp1189Asn NC_000005.10:72197297:G:A p.(Asp1189Asn) NC_000005.10:72197297:G:A p.(Asp1189Asn) NC_000005.10:72197297:G:A Identity +NM_014008.5:c.427G>A NP_054727.1:p.Val143Ile NC_000023.11:49242950:G:A p.(Val143Ile) NC_000023.11:49242950:G:A p.(Val143Ile) NC_000023.11:49242950:G:A Identity +NM_001303270.2:c.1792T>C NP_001290199.1:p.Tyr598His NC_000017.11:7740848:T:C p.(Tyr598His) NC_000017.11:7740848:T:C p.(Tyr598His) NC_000017.11:7740848:T:C Identity +NM_003620.4:c.267C>G NP_003611.1:p.Ser89Arg NC_000017.11:60600680:C:G p.(Ser89Arg) NC_000017.11:60600680:C:G p.(Ser89Arg) NC_000017.11:60600680:C:G Identity +NM_001007471.4:c.4969A>C NP_001007472.2:p.Ser1657Arg NC_000009.12:70536107:T:G p.(Ser1657Arg) NC_000009.12:70536107:T:G p.(Ser1657Arg) NC_000009.12:70536107:T:G Identity +NM_001163817.2:c.744G>A NP_001157289.1:p.Trp248Ter NC_000011.10:71438965:C:T p.(Trp248Ter) NC_000011.10:71438965:C:T p.(Trp248Ter) NC_000011.10:71438965:C:T Identity +NM_001040142.2:c.4948C>A NP_001035232.1:p.Leu1650Ile NC_000002.12:165388753:C:A p.(Leu1650Ile) NC_000002.12:165388753:C:A p.(Leu1650Ile) NC_000002.12:165388753:C:A Identity +NM_001256442.2:c.77G>C NP_001243371.1:p.Gly26Ala NC_000016.10:29813130:G:C p.(Gly26Ala) NC_000016.10:29813130:G:C p.(Gly26Ala) NC_000016.10:29813130:G:C Identity +NM_000414.4:c.1897C>T NP_000405.1:p.Arg633Cys NC_000005.10:119531307:C:T p.(Arg633Cys) NC_000005.10:119531307:C:T p.(Arg633Cys) NC_000005.10:119531307:C:T Identity +NM_001190964.4:c.2528_2529del NP_001177893.1:p.Lys843fs NC_000013.11:20058607:AAA:A p.(Lys843ArgfsTer21) NC_000013.11:20058607:AAA:A p.(Lys843ArgfsTer21) NC_000013.11:20058608:AA: Analogous +NM_017934.7:c.1054T>C NP_060404.4:p.Ser352Pro NC_000006.12:79017523:A:G p.(Ser352Pro) NC_000006.12:79017523:A:G p.(Ser352Pro) NC_000006.12:79017523:A:G Identity +NM_004973.4:c.12_13del NP_004964.2:p.Arg5fs NC_000006.12:15246549:AAA:A p.(Arg5ThrfsTer12) NC_000006.12:15246549:AAA:A p.(Arg5ThrfsTer12) NC_000006.12:15246550:AA: Analogous +NM_001177515.2:c.736C>T NP_001170986.1:p.Gln246Ter NC_000006.12:31691586:G:A p.(Gln246Ter) NC_000006.12:31691586:G:A p.(Gln246Ter) NC_000006.12:31691586:G:A Identity +NM_000069.3:c.2926A>G NP_000060.2:p.Lys976Glu NC_000001.11:201062070:T:C p.(Lys976Glu) NC_000001.11:201062070:T:C p.(Lys976Glu) NC_000001.11:201062070:T:C Identity +NM_001692.4:c.1060G>A NP_001683.2:p.Asp354Asn NC_000002.12:70963311:G:A p.(Asp354Asn) NC_000002.12:70963311:G:A p.(Asp354Asn) NC_000002.12:70963311:G:A Identity +NM_001077186.2:c.1382G>T NP_001070654.1:p.Arg461Leu NC_000019.10:50249038:G:T p.(Arg461Leu) NC_000019.10:50249038:G:T p.(Arg461Leu) NC_000019.10:50249038:G:T Identity +NM_001353345.2:c.4361G>A NP_001340274.1:p.Arg1454Gln NC_000012.12:121822939:G:A p.(Arg1454Gln) NC_000012.12:121822939:G:A p.(Arg1454Gln) NC_000012.12:121822939:G:A Identity +NM_001244580.2:c.4079C>T NP_001231509.1:p.Pro1360Leu NC_000007.14:98935642:C:T p.(Pro1360Leu) NC_000007.14:98935642:C:T p.(Pro1360Leu) NC_000007.14:98935642:C:T Identity +NM_000338.3:c.1316G>A NP_000329.2:p.Arg439Gln NC_000015.10:48244767:G:A p.(Arg439Gln) NC_000015.10:48244767:G:A p.(Arg439Gln) NC_000015.10:48244767:G:A Identity +NM_001362843.2:c.4157C>T NP_001349772.1:p.Ala1386Val NC_000022.11:41169564:C:T p.(Ala1386Val) NC_000022.11:41169564:C:T p.(Ala1386Val) NC_000022.11:41169564:C:T Identity +NM_000138.5:c.2168A>G NP_000129.3:p.Asp723Gly NC_000015.10:48497390:T:C p.(Asp723Gly) NC_000015.10:48497390:T:C p.(Asp723Gly) NC_000015.10:48497390:T:C Identity +NM_001394062.1:c.12752A>G NP_001380991.1:p.His4251Arg NC_000001.11:39361657:A:G p.(His4251Arg) NC_000001.11:39361657:A:G p.(His4251Arg) NC_000001.11:39361657:A:G Identity +NM_000901.5:c.102del NP_000892.2:p.Glu35fs NC_000004.12:148436758:T: p.(Glu35ArgfsTer14) NC_000004.12:148436758:T: p.(Glu35ArgfsTer14) NC_000004.12:148436758:T: Analogous +NM_014712.3:c.1345C>G NP_055527.1:p.Pro449Ala NC_000016.10:30965086:C:G p.(Pro449Ala) NC_000016.10:30965086:C:G p.(Pro449Ala) NC_000016.10:30965086:C:G Identity +NM_001375760.1:c.1787C>T NP_001362689.1:p.Pro596Leu NC_000007.14:100684100:G:A p.(Pro596Leu) NC_000007.14:100684100:G:A p.(Pro596Leu) NC_000007.14:100684100:G:A Identity +NM_001015048.3:c.589C>T NP_001015048.1:p.Arg197Ter NC_000014.9:103560575:G:A p.(Arg197Ter) NC_000014.9:103560575:G:A p.(Arg197Ter) NC_000014.9:103560575:G:A Identity +NM_001039141.3:c.6694C>T NP_001034230.1:p.Arg2232Cys NC_000022.11:37769145:C:T p.(Arg2232Cys) NC_000022.11:37769145:C:T p.(Arg2232Cys) NC_000022.11:37769145:C:T Identity +NM_152594.3:c.32A>T NP_689807.1:p.Asp11Val NC_000015.10:38253216:A:T p.(Asp11Val) NC_000015.10:38253216:A:T p.(Asp11Val) NC_000015.10:38253216:A:T Identity +NM_001099679.2:c.1603del NP_001093149.1:p.Leu535fs NC_000009.12:116699343:CC:C p.(Leu535SerfsTer21) NC_000009.12:116699343:CC:C p.(Leu535SerfsTer21) NC_000009.12:116699344:C: Analogous +NM_001077446.4:c.250A>G NP_001070914.1:p.Thr84Ala NC_000019.10:54191726:A:G p.(Thr84Ala) NC_000019.10:54191726:A:G p.(Thr84Ala) NC_000019.10:54191726:A:G Identity +NM_001178075.2:c.284T>C NP_001171546.1:p.Met95Thr NC_000007.14:97864398:A:G p.(Met95Thr) NC_000007.14:97864398:A:G p.(Met95Thr) NC_000007.14:97864398:A:G Identity +NM_001164730.2:c.400_410dup NP_001158202.1:p.Ala139fs NC_000002.12:86251984:GCGGCCACGTT:GCGGCCACGTTGCGGCCACGTT p.(Ala139TrpfsTer7) NC_000002.12:86251984:GCGGCCACGTT:GCGGCCACGTTGCGGCCACGTT p.(Ala139TrpfsTer7) ERR:SPDI Analogous +NM_001364858.1:c.1438C>G NP_001351787.1:p.Leu480Val NC_000007.14:4790558:C:G p.(Leu480Val) NC_000007.14:4790558:C:G p.(Leu480Val) NC_000007.14:4790558:C:G Identity +NM_001163812.2:c.286G>A NP_001157284.1:p.Val96Ile NC_000010.11:100988495:G:A p.(Val96Ile) NC_000010.11:100988495:G:A p.(Val96Ile) NC_000010.11:100988495:G:A Identity +NM_024306.5:c.956A>G NP_077282.3:p.His319Arg NC_000016.10:74716429:T:C p.(His319Arg) NC_000016.10:74716429:T:C p.(His319Arg) NC_000016.10:74716429:T:C Identity +NM_001330609.2:c.1106A>T NP_001317538.1:p.Asn369Ile NC_000008.11:125059513:T:A p.(Asn369Ile) NC_000008.11:125059513:T:A p.(Asn369Ile) NC_000008.11:125059513:T:A Identity +NM_001278055.2:c.8678dup NP_001264984.1:p.Asn2893fs NC_000013.11:23334756:TTTTT:TTTTTT p.(Asn2893LysfsTer5) NC_000013.11:23334756:TTTTT:TTTTTT p.(Asn2893LysfsTer5) ERR:SPDI Analogous +NM_001363850.1:c.1046G>T NP_001350779.1:p.Gly349Val NC_000016.10:89531961:G:T p.(Gly349Val) NC_000016.10:89531961:G:T p.(Gly349Val) NC_000016.10:89531961:G:T Identity +NM_001160147.2:c.1952A>G NP_001153619.1:p.His651Arg NC_000014.9:53058537:T:C p.(His651Arg) NC_000014.9:53058537:T:C p.(His651Arg) NC_000014.9:53058537:T:C Identity +NM_001160147.2:c.2216G>A NP_001153619.1:p.Arg739His NC_000014.9:53055709:C:T p.(Arg739His) NC_000014.9:53055709:C:T p.(Arg739His) NC_000014.9:53055709:C:T Identity +NM_001170414.2:c.1975C>T NP_001163885.1:p.Arg659Trp NC_000009.12:69237000:C:T p.(Arg659Trp) NC_000009.12:69237000:C:T p.(Arg659Trp) NC_000009.12:69237000:C:T Identity +NM_019066.5:c.224del NP_061939.3:p.Pro75fs NC_000015.10:23647518:GGGG:GGG p.(Pro75ArgfsTer5) NC_000015.10:23647518:GGGG:GGG p.(Pro75ArgfsTer5) NC_000015.10:23647518:G: Analogous +NM_002238.4:c.854A>C NP_002229.1:p.Lys285Thr NC_000001.11:211018960:T:G p.(Lys285Thr) NC_000001.11:211018960:T:G p.(Lys285Thr) NC_000001.11:211018960:T:G Identity +NM_001171653.2:c.3502G>C NP_001165124.1:p.Asp1168His NC_000002.12:144389521:C:G p.(Asp1168His) NC_000002.12:144389521:C:G p.(Asp1168His) NC_000002.12:144389521:C:G Identity +NM_022454.4:c.366G>C NP_071899.1:p.Glu122Asp NC_000008.11:54459115:G:C p.(Glu122Asp) NC_000008.11:54459115:G:C p.(Glu122Asp) NC_000008.11:54459115:G:C Identity +NM_000726.5:c.959C>T NP_000717.2:p.Ala320Val NC_000002.12:151855284:G:A p.(Ala320Val) NC_000002.12:151855284:G:A p.(Ala320Val) NC_000002.12:151855284:G:A Identity +NM_001363889.2:c.3992C>G NP_001350818.1:p.Ala1331Gly NC_000003.12:133612416:G:C p.(Ala1331Gly) NC_000003.12:133612416:G:C p.(Ala1331Gly) NC_000003.12:133612416:G:C Identity +NM_001330660.2:c.490C>T NP_001317589.1:p.Arg164Cys NC_000009.12:35744373:G:A p.(Arg164Cys) NC_000009.12:35744373:G:A p.(Arg164Cys) NC_000009.12:35744373:G:A Identity +NM_001134373.3:c.1562G>A NP_001127845.1:p.Arg521Gln NC_000010.11:103089795:C:T p.(Arg521Gln) NC_000010.11:103089795:C:T p.(Arg521Gln) NC_000010.11:103089795:C:T Identity +NM_001221.4:c.873G>C NP_001212.2:p.Leu291Phe NC_000004.12:113513859:C:G p.(Leu291Phe) NC_000004.12:113513859:C:G p.(Leu291Phe) NC_000004.12:113513859:C:G Identity +NM_000199.5:c.683A>G NP_000190.1:p.Asn228Ser NC_000017.11:80213865:T:C p.(Asn228Ser) NC_000017.11:80213865:T:C p.(Asn228Ser) NC_000017.11:80213865:T:C Identity +NM_001252127.2:c.1133_1134dup NP_001239056.1:p.Val379fs NC_000015.10:50949866:CT:CTCT p.(Val379LeufsTer5) NC_000015.10:50949866:CT:CTCT p.(Val379LeufsTer5) ERR:SPDI Analogous +NM_016059.5:c.245T>C NP_057143.1:p.Phe82Ser NC_000006.12:36856620:A:G p.(Phe82Ser) NC_000006.12:36856620:A:G p.(Phe82Ser) NC_000006.12:36856620:A:G Identity +NM_001128844.3:c.3818A>G NP_001122316.1:p.His1273Arg NC_000019.10:11033809:A:G p.(His1273Arg) NC_000019.10:11033809:A:G p.(His1273Arg) NC_000019.10:11033809:A:G Identity +NM_001128204.2:c.1727G>A NP_001121676.1:p.Arg576His NC_000008.11:69624073:G:A p.(Arg576His) NC_000008.11:69624073:G:A p.(Arg576His) NC_000008.11:69624073:G:A Identity +NM_001369404.1:c.166C>G NP_001356333.1:p.Arg56Gly NC_000011.10:19186294:G:C p.(Arg56Gly) NC_000011.10:19186294:G:C p.(Arg56Gly) NC_000011.10:19186294:G:C Identity +NM_000465.4:c.2024del NP_000456.2:p.Cys675fs NC_000002.12:214728985:C: p.(Cys675SerfsTer39) NC_000002.12:214728985:C: p.(Cys675SerfsTer39) NC_000002.12:214728985:C: Analogous +NM_001167749.3:c.299G>A NP_001161221.1:p.Cys100Tyr NC_000001.11:167893922:C:T p.(Cys100Tyr) NC_000001.11:167893922:C:T p.(Cys100Tyr) NC_000001.11:167893922:C:T Identity +NM_001008389.3:c.1382C>A NP_001008390.1:p.Ala461Glu NC_000016.10:20341285:G:T p.(Ala461Glu) NC_000016.10:20341285:G:T p.(Ala461Glu) NC_000016.10:20341285:G:T Identity +NM_001845.6:c.4717G>A NP_001836.3:p.Gly1573Arg NC_000013.11:110155320:C:T p.(Gly1573Arg) NC_000013.11:110155320:C:T p.(Gly1573Arg) NC_000013.11:110155320:C:T Identity +NM_004329.3:c.534T>G NP_004320.2:p.His178Gln NC_000010.11:86912242:T:G p.(His178Gln) NC_000010.11:86912242:T:G p.(His178Gln) NC_000010.11:86912242:T:G Identity +NM_001199577.2:c.938C>T NP_001186506.1:p.Pro313Leu NC_000007.14:150742464:C:T p.(Pro313Leu) NC_000007.14:150742464:C:T p.(Pro313Leu) NC_000007.14:150742464:C:T Identity +NM_001128855.3:c.565C>T NP_001122327.1:p.Arg189Cys NC_000019.10:17338714:C:T p.(Arg189Cys) NC_000019.10:17338714:C:T p.(Arg189Cys) NC_000019.10:17338714:C:T Identity +NM_001190709.2:c.301A>G NP_001177638.1:p.Ile101Val NC_000001.11:103078844:T:C p.(Ile101Val) NC_000001.11:103078844:T:C p.(Ile101Val) NC_000001.11:103078844:T:C Identity +NM_001160227.2:c.6110_6116del NP_001153699.1:p.Leu2037fs NC_000015.10:44570546:GGGGCCAGG:GG p.(Leu2037ProfsTer21) NC_000015.10:44570546:GGGGCCAGG:GG p.(Leu2037ProfsTer21) NC_000015.10:44570546:GGGGCCA: Analogous +NM_001363850.1:c.1897C>T NP_001350779.1:p.Arg633Trp NC_000016.10:89553095:C:T p.(Arg633Trp) NC_000016.10:89553095:C:T p.(Arg633Trp) NC_000016.10:89553095:C:T Identity +NM_015346.4:c.1141G>C NP_056161.2:p.Glu381Gln NC_000014.9:67805494:C:G p.(Glu381Gln) NC_000014.9:67805494:C:G p.(Glu381Gln) NC_000014.9:67805494:C:G Identity +NM_001112808.3:c.1932_1933del NP_001106279.3:p.Gly646fs NC_000001.11:74369546:AG: p.(Gly646PhefsTer8) NC_000001.11:74369546:AG: p.(Gly646PhefsTer8) NC_000001.11:74369546:AG: Analogous +NM_001135058.2:c.1157T>C NP_001128530.1:p.Met386Thr NC_000014.9:30885991:T:C p.(Met386Thr) NC_000014.9:30885991:T:C p.(Met386Thr) NC_000014.9:30885991:T:C Identity +NM_001185039.2:c.1102G>C NP_001171968.1:p.Gly368Arg NC_000017.11:75950855:C:G p.(Gly368Arg) NC_000017.11:75950855:C:G p.(Gly368Arg) NC_000017.11:75950855:C:G Identity +NM_000153.4:c.1592G>T NP_000144.2:p.Arg531Leu NC_000014.9:87945630:C:A p.(Arg531Leu) NC_000014.9:87945630:C:A p.(Arg531Leu) NC_000014.9:87945630:C:A Identity +NM_001354705.2:c.2296C>T NP_001341634.1:p.Arg766Cys NC_000012.12:57580979:C:T p.(Arg766Cys) NC_000012.12:57580979:C:T p.(Arg766Cys) NC_000012.12:57580979:C:T Identity +NM_000533.5:c.763C>T NP_000524.3:p.Leu255Phe NC_000023.11:103790526:C:T p.(Leu255Phe) NC_000023.11:103790526:C:T p.(Leu255Phe) NC_000023.11:103790526:C:T Identity +NM_000428.3:c.1156G>A NP_000419.1:p.Gly386Ser NC_000014.9:74552927:C:T p.(Gly386Ser) NC_000014.9:74552927:C:T p.(Gly386Ser) NC_000014.9:74552927:C:T Identity +NM_001282237.2:c.2650G>A NP_001269166.1:p.Asp884Asn NC_000014.9:99174182:C:T p.(Asp884Asn) NC_000014.9:99174182:C:T p.(Asp884Asn) NC_000014.9:99174182:C:T Identity +NM_003801.4:c.1472C>T NP_003792.1:p.Pro491Leu NC_000008.11:144085592:C:T p.(Pro491Leu) NC_000008.11:144085592:C:T p.(Pro491Leu) NC_000008.11:144085592:C:T Identity +NM_004813.4:c.325C>T NP_004804.2:p.Arg109Cys NC_000011.10:45915736:G:A p.(Arg109Cys) NC_000011.10:45915736:G:A p.(Arg109Cys) NC_000011.10:45915736:G:A Identity +NM_000717.5:c.896T>C NP_000708.1:p.Leu299Pro NC_000017.11:60159380:T:C p.(Leu299Pro) NC_000017.11:60159380:T:C p.(Leu299Pro) NC_000017.11:60159380:T:C Identity +NM_016169.4:c.1312del NP_057253.2:p.Glu438fs NC_000010.11:102627189:G: p.(Glu438SerfsTer3) NC_000010.11:102627189:G: p.(Glu438SerfsTer3) NC_000010.11:102627189:G: Analogous +NM_000138.5:c.2670C>A NP_000129.3:p.Cys890Ter NC_000015.10:48495129:G:T p.(Cys890Ter) NC_000015.10:48495129:G:T p.(Cys890Ter) NC_000015.10:48495129:G:T Identity +NM_001172509.2:c.1174G>C NP_001165980.1:p.Gly392Arg NC_000002.12:199328909:C:G p.(Gly392Arg) NC_000002.12:199328909:C:G p.(Gly392Arg) NC_000002.12:199328909:C:G Identity +NM_000833.5:c.3377C>T NP_000824.1:p.Pro1126Leu NC_000016.10:9764166:G:A p.(Pro1126Leu) NC_000016.10:9764166:G:A p.(Pro1126Leu) NC_000016.10:9764166:G:A Identity +NM_001291415.2:c.1730A>C NP_001278344.1:p.Asn577Thr NC_000023.11:45063467:A:C p.(Asn577Thr) NC_000023.11:45063467:A:C p.(Asn577Thr) NC_000023.11:45063467:A:C Identity +NM_001386500.1:c.5964C>A NP_001373429.1:p.His1988Gln NC_000001.11:11128072:G:T p.(His1988Gln) NC_000001.11:11128072:G:T p.(His1988Gln) NC_000001.11:11128072:G:T Identity +NM_001204425.2:c.2443del NP_001191354.2:p.Leu815fs NC_000013.11:102862229:C: p.(Leu815TrpfsTer18) NC_000013.11:102862229:C: p.(Leu815TrpfsTer18) NC_000013.11:102862229:C: Analogous +NM_174916.3:c.1508G>A NP_777576.1:p.Arg503Gln NC_000015.10:43048422:C:T p.(Arg503Gln) NC_000015.10:43048422:C:T p.(Arg503Gln) NC_000015.10:43048422:C:T Identity +NM_001031689.3:c.1445C>T NP_001026859.1:p.Ser482Leu NC_000009.12:26917137:G:A p.(Ser482Leu) NC_000009.12:26917137:G:A p.(Ser482Leu) NC_000009.12:26917137:G:A Identity +NM_001005407.2:c.5804C>G NP_001005407.1:p.Ser1935Trp NC_000016.10:1218585:C:G p.(Ser1935Trp) NC_000016.10:1218585:C:G p.(Ser1935Trp) NC_000016.10:1218585:C:G Identity +NM_001271999.2:c.3674C>T NP_001258928.1:p.Ser1225Leu NC_000001.11:62529383:G:A p.(Ser1225Leu) NC_000001.11:62529383:G:A p.(Ser1225Leu) NC_000001.11:62529383:G:A Identity +NM_004525.3:c.12623C>A NP_004516.2:p.Pro4208His NC_000002.12:169146926:G:T p.(Pro4208His) NC_000002.12:169146926:G:T p.(Pro4208His) NC_000002.12:169146926:G:T Identity +NM_012114.3:c.449T>A NP_036246.1:p.Met150Lys NC_000019.10:15055202:T:A p.(Met150Lys) NC_000019.10:15055202:T:A p.(Met150Lys) NC_000019.10:15055202:T:A Identity +NM_001287424.2:c.251del NP_001274353.1:p.Pro84fs NC_000019.10:33302268:GGGG:GGG p.(Pro84ArgfsTer111) NC_000019.10:33302268:GGGG:GGG p.(Pro84ArgfsTer111) NC_000019.10:33302268:G: Analogous +NM_001287424.2:c.285_288del NP_001274353.1:p.Ile97fs NC_000019.10:33302231:GGACG:G p.(Ile97ThrfsTer97) NC_000019.10:33302231:GGACG:G p.(Ile97ThrfsTer97) NC_000019.10:33302231:GGAC: Analogous +NM_182758.4:c.764_768del NP_877435.3:p.Gly255fs NC_000015.10:53711424:CTGCCC:C p.(Gly255ValfsTer40) NC_000015.10:53711424:CTGCCC:C p.(Gly255ValfsTer40) NC_000015.10:53711424:CTGCC: Analogous +NM_006129.5:c.2519G>A NP_006120.1:p.Arg840His NC_000008.11:22207459:G:A p.(Arg840His) NC_000008.11:22207459:G:A p.(Arg840His) NC_000008.11:22207459:G:A Identity +NM_052813.5:c.1489G>A NP_434700.2:p.Glu497Lys NC_000009.12:136364504:C:T p.(Glu497Lys) NC_000009.12:136364504:C:T p.(Glu497Lys) NC_000009.12:136364504:C:T Identity +NM_000760.4:c.693G>A NP_000751.1:p.Met231Ile NC_000001.11:36472666:C:T p.(Met231Ile) NC_000001.11:36472666:C:T p.(Met231Ile) NC_000001.11:36472666:C:T Identity +NM_001130955.2:c.2386C>G NP_001124427.2:p.Leu796Val NC_000019.10:7467315:C:G p.(Leu796Val) NC_000019.10:7467315:C:G p.(Leu796Val) NC_000019.10:7467315:C:G Identity +NM_000018.4:c.1159G>A NP_000009.1:p.Val387Ile NC_000017.11:7223213:G:A p.(Val387Ile) NC_000017.11:7223213:G:A p.(Val387Ile) NC_000017.11:7223213:G:A Identity +NM_001267550.2:c.10546G>T NP_001254479.2:p.Glu3516Ter NC_000002.12:178757673:C:A p.(Glu3516Ter) NC_000002.12:178757673:C:A p.(Glu3516Ter) NC_000002.12:178757673:C:A Identity +NM_007215.4:c.776G>A NP_009146.2:p.Arg259Gln NC_000017.11:64492685:C:T p.(Arg259Gln) NC_000017.11:64492685:C:T p.(Arg259Gln) NC_000017.11:64492685:C:T Identity +NM_001363823.2:c.1430A>T NP_001350752.1:p.Asp477Val NC_000002.12:32137127:A:T p.(Asp477Val) NC_000002.12:32137127:A:T p.(Asp477Val) NC_000002.12:32137127:A:T Identity +NM_001297575.2:c.725A>G NP_001284504.1:p.Glu242Gly NC_000001.11:179551395:T:C p.(Glu242Gly) NC_000001.11:179551395:T:C p.(Glu242Gly) NC_000001.11:179551395:T:C Identity +NM_001146039.2:c.631G>C NP_001139511.2:p.Asp211His NC_000001.11:170544813:G:C p.(Asp211His) NC_000001.11:170544813:G:C p.(Asp211His) NC_000001.11:170544813:G:C Identity +NM_001161357.2:c.97C>G NP_001154829.1:p.Leu33Val NC_000019.10:17762830:C:G p.(Leu33Val) NC_000019.10:17762830:C:G p.(Leu33Val) NC_000019.10:17762830:C:G Identity +NM_001282587.2:c.1376C>T NP_001269516.1:p.Ala459Val NC_000001.11:9263835:C:T p.(Ala459Val) NC_000001.11:9263835:C:T p.(Ala459Val) NC_000001.11:9263835:C:T Identity +NM_001122955.4:c.281A>T NP_001116427.1:p.Gln94Leu NC_000011.10:62705423:T:A p.(Gln94Leu) NC_000011.10:62705423:T:A p.(Gln94Leu) NC_000011.10:62705423:T:A Identity +NM_020919.4:c.2735G>A NP_065970.2:p.Arg912His NC_000002.12:201728617:C:T p.(Arg912His) NC_000002.12:201728617:C:T p.(Arg912His) NC_000002.12:201728617:C:T Identity +NM_000425.5:c.644G>A NP_000416.1:p.Gly215Asp NC_000023.11:153870839:C:T p.(Gly215Asp) NC_000023.11:153870839:C:T p.(Gly215Asp) NC_000023.11:153870839:C:T Identity +NM_001354640.2:c.1151C>T NP_001341569.1:p.Ser384Leu NC_000014.9:23102249:G:A p.(Ser384Leu) NC_000014.9:23102249:G:A p.(Ser384Leu) NC_000014.9:23102249:G:A Identity +NM_001291902.2:c.1088C>G NP_001278831.1:p.Pro363Arg NC_000011.10:68416330:C:G p.(Pro363Arg) NC_000011.10:68416330:C:G p.(Pro363Arg) NC_000011.10:68416330:C:G Identity +NM_001004334.4:c.1123G>A NP_001004334.3:p.Glu375Lys NC_000017.11:38337081:C:T p.(Glu375Lys) NC_000017.11:38337081:C:T p.(Glu375Lys) NC_000017.11:38337081:C:T Identity +NM_001304482.2:c.3331C>T NP_001291411.1:p.Arg1111Cys NC_000003.12:47411506:C:T p.(Arg1111Cys) NC_000003.12:47411506:C:T p.(Arg1111Cys) NC_000003.12:47411506:C:T Identity +NM_001320210.2:c.694A>G NP_001307139.1:p.Met232Val NC_000003.12:132675296:A:G p.(Met232Val) NC_000003.12:132675296:A:G p.(Met232Val) NC_000003.12:132675296:A:G Identity +NM_030930.4:c.1172T>A NP_112192.2:p.Leu391His NC_000011.10:67995801:A:T p.(Leu391His) NC_000011.10:67995801:A:T p.(Leu391His) NC_000011.10:67995801:A:T Identity +NM_001291860.2:c.6205C>G NP_001278789.1:p.Leu2069Val NC_000001.11:21854696:G:C p.(Leu2069Val) NC_000001.11:21854696:G:C p.(Leu2069Val) NC_000001.11:21854696:G:C Identity +NM_001100913.3:c.931G>A NP_001094383.2:p.Val311Ile NC_000014.9:105376896:G:A p.(Val311Ile) NC_000014.9:105376896:G:A p.(Val311Ile) NC_000014.9:105376896:G:A Identity +NM_001317163.2:c.682T>C NP_001304092.1:p.Tyr228His NC_000009.12:121032115:A:G p.(Tyr228His) NC_000009.12:121032115:A:G p.(Tyr228His) NC_000009.12:121032115:A:G Identity +NM_001369906.1:c.523G>T NP_001356835.1:p.Ala175Ser NC_000022.11:23573387:C:A p.(Ala175Ser) NC_000022.11:23573387:C:A p.(Ala175Ser) NC_000022.11:23573387:C:A Identity +NM_001365819.1:c.2997G>C NP_001352748.1:p.Glu999Asp NC_000022.11:50460685:C:G p.(Glu999Asp) NC_000022.11:50460685:C:G p.(Glu999Asp) NC_000022.11:50460685:C:G Identity +NM_001207047.3:c.1468C>A NP_001193976.1:p.Pro490Thr NC_000020.11:3565376:C:A p.(Pro490Thr) NC_000020.11:3565376:C:A p.(Pro490Thr) NC_000020.11:3565376:C:A Identity +NM_001165962.2:c.1117A>T NP_001159434.1:p.Ser373Cys NC_000017.11:13002340:T:A p.(Ser373Cys) NC_000017.11:13002340:T:A p.(Ser373Cys) NC_000017.11:13002340:T:A Identity +NM_000143.4:c.634C>G NP_000134.2:p.Gln212Glu NC_000001.11:241508706:G:C p.(Gln212Glu) NC_000001.11:241508706:G:C p.(Gln212Glu) NC_000001.11:241508706:G:C Identity +NM_020928.2:c.2571A>C NP_065979.1:p.Glu857Asp NC_000005.10:61539626:A:C p.(Glu857Asp) NC_000005.10:61539626:A:C p.(Glu857Asp) NC_000005.10:61539626:A:C Identity +NM_001244189.2:c.4366A>G NP_001231118.1:p.Met1456Val NC_000014.9:58508592:A:G p.(Met1456Val) NC_000014.9:58508592:A:G p.(Met1456Val) NC_000014.9:58508592:A:G Identity +NM_001271.4:c.2035G>A NP_001262.3:p.Gly679Arg NC_000015.10:92967358:G:A p.(Gly679Arg) NC_000015.10:92967358:G:A p.(Gly679Arg) NC_000015.10:92967358:G:A Identity +NM_001081955.3:c.1675G>A NP_001075424.1:p.Asp559Asn NC_000017.11:65225277:G:A p.(Asp559Asn) NC_000017.11:65225277:G:A p.(Asp559Asn) NC_000017.11:65225277:G:A Identity +NM_012213.3:c.226G>A NP_036345.2:p.Gly76Ser NC_000016.10:83899369:G:A p.(Gly76Ser) NC_000016.10:83899369:G:A p.(Gly76Ser) NC_000016.10:83899369:G:A Identity +NM_001346754.2:c.677A>G NP_001333683.1:p.Gln226Arg NC_000017.11:36537777:A:G p.(Gln226Arg) NC_000017.11:36537777:A:G p.(Gln226Arg) NC_000017.11:36537777:A:G Identity +NM_000051.4:c.975T>A NP_000042.3:p.His325Gln NC_000011.10:108247036:T:A p.(His325Gln) NC_000011.10:108247036:T:A p.(His325Gln) NC_000011.10:108247036:T:A Identity +NM_001005505.3:c.1118C>T NP_001005505.1:p.Ala373Val NC_000003.12:50379465:G:A p.(Ala373Val) NC_000003.12:50379465:G:A p.(Ala373Val) NC_000003.12:50379465:G:A Identity +NM_001128227.3:c.2075A>G NP_001121699.1:p.Asn692Ser NC_000009.12:36217551:T:C p.(Asn692Ser) NC_000009.12:36217551:T:C p.(Asn692Ser) NC_000009.12:36217551:T:C Identity +NM_001310332.2:c.2257G>A NP_001297261.1:p.Ala753Thr NC_000014.9:24157620:G:A p.(Ala753Thr) NC_000014.9:24157620:G:A p.(Ala753Thr) NC_000014.9:24157620:G:A Identity +NM_020949.3:c.67C>T NP_066000.2:p.His23Tyr NC_000003.12:170526869:G:A p.(His23Tyr) NC_000003.12:170526869:G:A p.(His23Tyr) NC_000003.12:170526869:G:A Identity +NM_001170414.2:c.1757T>C NP_001163885.1:p.Ile586Thr NC_000009.12:69236072:T:C p.(Ile586Thr) NC_000009.12:69236072:T:C p.(Ile586Thr) NC_000009.12:69236072:T:C Identity +NM_020247.5:c.1003C>T NP_064632.2:p.Pro335Ser NC_000001.11:226982956:C:T p.(Pro335Ser) NC_000001.11:226982956:C:T p.(Pro335Ser) NC_000001.11:226982956:C:T Identity +NM_001365819.1:c.3634G>A NP_001352748.1:p.Gly1212Ser NC_000022.11:50459526:C:T p.(Gly1212Ser) NC_000022.11:50459526:C:T p.(Gly1212Ser) NC_000022.11:50459526:C:T Identity +NM_001318245.2:c.3922G>A NP_001305174.1:p.Glu1308Lys NC_000022.11:25868352:G:A p.(Glu1308Lys) NC_000022.11:25868352:G:A p.(Glu1308Lys) NC_000022.11:25868352:G:A Identity +NM_001164716.1:c.1090G>A NP_001158188.1:p.Ala364Thr NC_000011.10:64753567:C:T p.(Ala364Thr) NC_000011.10:64753567:C:T p.(Ala364Thr) NC_000011.10:64753567:C:T Identity +NM_001243342.2:c.1093G>T NP_001230271.1:p.Glu365Ter NC_000017.11:80050216:G:T p.(Glu365Ter) NC_000017.11:80050216:G:T p.(Glu365Ter) NC_000017.11:80050216:G:T Identity +NM_001282683.2:c.484G>A NP_001269612.1:p.Asp162Asn NC_000016.10:87334282:C:T p.(Asp162Asn) NC_000016.10:87334282:C:T p.(Asp162Asn) NC_000016.10:87334282:C:T Identity +NM_032756.4:c.835C>T NP_116145.1:p.Gln279Ter NC_000001.11:45327982:C:T p.(Gln279Ter) NC_000001.11:45327982:C:T p.(Gln279Ter) NC_000001.11:45327982:C:T Identity +NM_001182.5:c.76_82del NP_001173.2:p.Ala26fs NC_000005.10:126595116:AGGCGGCAGGC:AGGC p.(Ala26SerfsTer15) NC_000005.10:126595116:AGGCGGCAGGC:AGGC p.(Ala26SerfsTer15) NC_000005.10:126595116:AGGCGGC: Analogous +NM_001322902.2:c.487A>G NP_001309831.1:p.Met163Val NC_000020.11:10299346:A:G p.(Met163Val) NC_000020.11:10299346:A:G p.(Met163Val) NC_000020.11:10299346:A:G Identity +NM_022168.4:c.2638A>C NP_071451.2:p.Ser880Arg NC_000002.12:162268255:T:G p.(Ser880Arg) NC_000002.12:162268255:T:G p.(Ser880Arg) NC_000002.12:162268255:T:G Identity +NM_005876.5:c.4369C>T NP_005867.3:p.Arg1457Trp NC_000002.12:219473824:C:T p.(Arg1457Trp) NC_000002.12:219473824:C:T p.(Arg1457Trp) NC_000002.12:219473824:C:T Identity +NM_001081640.2:c.7373T>C NP_001075109.1:p.Val2458Ala NC_000008.11:47840096:A:G p.(Val2458Ala) NC_000008.11:47840096:A:G p.(Val2458Ala) NC_000008.11:47840096:A:G Identity +NM_001164507.2:c.5150G>T NP_001157979.2:p.Arg1717Leu NC_000002.12:151665420:C:A p.(Arg1717Leu) NC_000002.12:151665420:C:A p.(Arg1717Leu) NC_000002.12:151665420:C:A Identity +NM_001414.4:c.42G>A NP_001405.1:p.Met14Ile NC_000012.12:123632417:C:T p.(Met14Ile) NC_000012.12:123632417:C:T p.(Met14Ile) NC_000012.12:123632417:C:T Identity +NM_000399.5:c.415G>T NP_000390.2:p.Ala139Ser NC_000010.11:62814222:C:A p.(Ala139Ser) NC_000010.11:62814222:C:A p.(Ala139Ser) NC_000010.11:62814222:C:A Identity +NM_001193493.2:c.686C>A NP_001180422.1:p.Ser229Tyr NC_000002.12:65021126:C:A p.(Ser229Tyr) NC_000002.12:65021126:C:A p.(Ser229Tyr) NC_000002.12:65021126:C:A Identity +NM_001004127.3:c.124A>G NP_001004127.2:p.Ile42Val NC_000013.11:52018991:A:G p.(Ile42Val) NC_000013.11:52018991:A:G p.(Ile42Val) NC_000013.11:52018991:A:G Identity +NM_001081.4:c.9166G>T NP_001072.2:p.Ala3056Ser NC_000010.11:16874443:C:A p.(Ala3056Ser) NC_000010.11:16874443:C:A p.(Ala3056Ser) NC_000010.11:16874443:C:A Identity +NM_032790.4:c.17C>T NP_116179.2:p.Ala6Val NC_000012.12:121626758:C:T p.(Ala6Val) NW_018654719.1:32534:C:T p.(Ala6Val) NC_000012.12:32534:G:T Identity +NM_001244926.2:c.343G>T NP_001231855.1:p.Gly115Trp NC_000009.12:113279081:G:T p.(Gly115Trp) NC_000009.12:113279081:G:T p.(Gly115Trp) NC_000009.12:113279081:G:T Identity +NM_000238.4:c.622G>A NP_000229.1:p.Glu208Lys NC_000007.14:150958352:C:T p.(Glu208Lys) NC_000007.14:150958352:C:T p.(Glu208Lys) NC_000007.14:150958352:C:T Identity +NM_001379500.1:c.684C>G NP_001366429.1:p.Asp228Glu NC_000021.9:45473926:C:G p.(Asp228Glu) NC_000021.9:45473926:C:G p.(Asp228Glu) NC_000021.9:45473926:C:G Identity +NM_002618.4:c.53C>T NP_002609.1:p.Pro18Leu NC_000002.12:61017811:C:T p.(Pro18Leu) NC_000002.12:61017811:C:T p.(Pro18Leu) NC_000002.12:61017811:C:T Identity +NM_006218.4:c.1064A>G NP_006209.2:p.Tyr355Cys NC_000003.12:179204506:A:G p.(Tyr355Cys) NC_000003.12:179204506:A:G p.(Tyr355Cys) NC_000003.12:179204506:A:G Identity +NM_031942.5:c.955C>T NP_114148.3:p.Arg319Cys NC_000002.12:173365511:C:T p.(Arg319Cys) NC_000002.12:173365511:C:T p.(Arg319Cys) NC_000002.12:173365511:C:T Identity +NM_001193465.2:c.1633G>A NP_001180394.1:p.Val545Ile NC_000017.11:46067567:C:T p.(Val545Ile) NC_000017.11:46067567:C:T p.(Val545Ile) NC_000017.11:46067567:C:T Identity +NM_019109.5:c.191C>T NP_061982.3:p.Thr64Ile NC_000016.10:5072039:C:T p.(Thr64Ile) NC_000016.10:5072039:C:T p.(Thr64Ile) NC_000016.10:5072039:C:T Identity +NM_001077365.2:c.650T>G NP_001070833.1:p.Val217Gly NC_000009.12:131509946:T:G p.(Val217Gly) NC_000009.12:131509946:T:G p.(Val217Gly) NC_000009.12:131509946:T:G Identity +NM_000038.6:c.6626T>C NP_000029.2:p.Ile2209Thr NC_000005.10:112842219:T:C p.(Ile2209Thr) NC_000005.10:112842219:T:C p.(Ile2209Thr) NC_000005.10:112842219:T:C Identity +NM_005247.4:c.221G>A NP_005238.1:p.Ser74Asn NC_000011.10:69816422:C:T p.(Ser74Asn) NC_000011.10:69816422:C:T p.(Ser74Asn) NC_000011.10:69816422:C:T Identity +NM_000363.5:c.155T>C NP_000354.4:p.Leu52Pro NC_000019.10:55156327:A:G p.(Leu52Pro) NC_000019.10:55156327:A:G p.(Leu52Pro) NC_000019.10:55156327:A:G Identity +NM_001351225.2:c.1051A>G NP_001338154.1:p.Arg351Gly NC_000017.11:6606933:T:C p.(Arg351Gly) NC_000017.11:6606933:T:C p.(Arg351Gly) NC_000017.11:6606933:T:C Identity +NM_014141.6:c.1222G>A NP_054860.1:p.Gly408Ser NC_000007.14:147132382:G:A p.(Gly408Ser) NC_000007.14:147132382:G:A p.(Gly408Ser) NC_000007.14:147132382:G:A Identity +NM_000214.3:c.1326G>T NP_000205.1:p.Trp442Cys NC_000020.11:10649543:C:A p.(Trp442Cys) NC_000020.11:10649543:C:A p.(Trp442Cys) NC_000020.11:10649543:C:A Identity +NM_024577.4:c.828G>C NP_078853.2:p.Leu276Phe NC_000005.10:149038467:C:G p.(Leu276Phe) NC_000005.10:149038467:C:G p.(Leu276Phe) NC_000005.10:149038467:C:G Identity +NM_001347827.2:c.1717A>T NP_001334756.1:p.Ile573Phe NC_000004.12:54274903:A:T p.(Ile573Phe) NC_000004.12:54274903:A:T p.(Ile573Phe) NC_000004.12:54274903:A:T Identity +NM_013276.4:c.55G>C NP_037408.2:p.Ala19Pro NC_000017.11:3636164:C:G p.(Ala19Pro) NC_000017.11:3636164:C:G p.(Ala19Pro) NC_000017.11:3636164:C:G Identity +NM_003076.5:c.167C>G NP_003067.3:p.Ala56Gly NC_000012.12:50085535:C:G p.(Ala56Gly) NC_000012.12:50085535:C:G p.(Ala56Gly) NC_000012.12:50085535:C:G Identity +NM_001164507.2:c.586G>A NP_001157979.2:p.Val196Ile NC_000002.12:151724285:C:T p.(Val196Ile) NC_000002.12:151724285:C:T p.(Val196Ile) NC_000002.12:151724285:C:T Identity +NM_000083.3:c.847C>T NP_000074.3:p.Leu283Phe NC_000007.14:143324485:C:T p.(Leu283Phe) NC_000007.14:143324485:C:T p.(Leu283Phe) NC_000007.14:143324485:C:T Identity +NM_001037343.2:c.844C>G NP_001032420.1:p.Pro282Ala NC_000023.11:18598479:C:G p.(Pro282Ala) NC_000023.11:18598479:C:G p.(Pro282Ala) NC_000023.11:18598479:C:G Identity +NM_001164691.2:c.1401G>C NP_001158163.1:p.Arg467Ser NC_000012.12:53431436:G:C p.(Arg467Ser) NC_000012.12:53431436:G:C p.(Arg467Ser) NC_000012.12:53431436:G:C Identity +NM_001942.4:c.2369A>C NP_001933.2:p.Glu790Ala NC_000018.10:31354564:A:C p.(Glu790Ala) NC_000018.10:31354564:A:C p.(Glu790Ala) NC_000018.10:31354564:A:C Identity +NM_001081.4:c.6320A>C NP_001072.2:p.Lys2107Thr NC_000010.11:16925725:T:G p.(Lys2107Thr) NC_000010.11:16925725:T:G p.(Lys2107Thr) NC_000010.11:16925725:T:G Identity +NM_001277126.2:c.851G>A NP_001264055.1:p.Arg284Gln NC_000019.10:53810807:C:T p.(Arg284Gln) NC_000019.10:53810807:C:T p.(Arg284Gln) NC_000019.10:53810807:C:T Identity +NM_000593.6:c.2047C>T NP_000584.3:p.Gln683Ter NC_000006.12:32845778:G:A p.(Gln683Ter) NC_000006.12:32845778:G:A p.(Gln683Ter) NC_000006.12:32845778:G:A Identity +NM_000051.4:c.1511A>C NP_000042.3:p.Asn504Thr NC_000011.10:108250975:A:C p.(Asn504Thr) NC_000011.10:108250975:A:C p.(Asn504Thr) NC_000011.10:108250975:A:C Identity +NM_001374321.1:c.2174T>C NP_001361250.1:p.Ile725Thr NC_000008.11:100239297:T:C p.(Ile725Thr) NC_000008.11:100239297:T:C p.(Ile725Thr) NC_000008.11:100239297:T:C Identity +NM_000036.3:c.769A>C NP_000027.3:p.Lys257Gln NC_000001.11:114679706:T:G p.(Lys257Gln) NC_000001.11:114679706:T:G p.(Lys257Gln) NC_000001.11:114679706:T:G Identity +NM_001128228.3:c.1517A>G NP_001121700.2:p.Lys506Arg NC_000009.12:137199194:T:C p.(Lys506Arg) NC_000009.12:137199194:T:C p.(Lys506Arg) NC_000009.12:137199194:T:C Identity +NM_001270507.2:c.1444G>A NP_001257436.1:p.Gly482Ser NC_000006.12:137878888:G:A p.(Gly482Ser) NC_000006.12:137878888:G:A p.(Gly482Ser) NC_000006.12:137878888:G:A Identity +NM_001317184.2:c.169T>G NP_001304113.1:p.Phe57Val NC_000016.10:68801674:T:G p.(Phe57Val) NC_000016.10:68801674:T:G p.(Phe57Val) NC_000016.10:68801674:T:G Identity +NM_001042594.2:c.886A>G NP_001036059.1:p.Lys296Glu NC_000007.14:124841062:T:C p.(Lys296Glu) NC_000007.14:124841062:T:C p.(Lys296Glu) NC_000007.14:124841062:T:C Identity +NM_002661.5:c.1952T>C NP_002652.2:p.Leu651Pro NC_000016.10:81912613:T:C p.(Leu651Pro) NC_000016.10:81912613:T:C p.(Leu651Pro) NC_000016.10:81912613:T:C Identity +NM_001316327.2:c.1501G>T NP_001303256.1:p.Gly501Trp NC_000003.12:53188804:G:T p.(Gly501Trp) NC_000003.12:53188804:G:T p.(Gly501Trp) NC_000003.12:53188804:G:T Identity +NM_001330166.2:c.196A>G NP_001317095.1:p.Met66Val NC_000017.11:28547805:T:C p.(Met66Val) NC_000017.11:28547805:T:C p.(Met66Val) NC_000017.11:28547805:T:C Identity +NM_153240.5:c.2311A>G NP_694972.3:p.Ile771Val NC_000003.12:132692817:T:C p.(Ile771Val) NC_000003.12:132692817:T:C p.(Ile771Val) NC_000003.12:132692817:T:C Identity +NM_014014.5:c.637G>A NP_054733.2:p.Asp213Asn NC_000002.12:96299420:C:T p.(Asp213Asn) NC_000002.12:96299420:C:T p.(Asp213Asn) NC_000002.12:96299420:C:T Identity +NM_001374425.1:c.1009A>G NP_001361354.1:p.Lys337Glu NC_000001.11:2405794:T:C p.(Lys337Glu) NC_000001.11:2405794:T:C p.(Lys337Glu) NC_000001.11:2405794:T:C Identity +NM_001195286.2:c.1331G>A NP_001182215.1:p.Arg444His NC_000006.12:407575:G:A p.(Arg444His) NC_000006.12:407575:G:A p.(Arg444His) NC_000006.12:407575:G:A Identity +NM_033071.5:c.10495C>T NP_149062.2:p.Arg3499Cys NC_000006.12:152358506:G:A p.(Arg3499Cys) NC_000006.12:152358506:G:A p.(Arg3499Cys) NC_000006.12:152358506:G:A Identity +NM_001130518.2:c.117C>G NP_001123990.1:p.Asp39Glu NC_000008.11:19505717:G:C p.(Asp39Glu) NC_000008.11:19505717:G:C p.(Asp39Glu) NC_000008.11:19505717:G:C Identity +NM_001282489.3:c.893T>C NP_001269418.1:p.Met298Thr NC_000017.11:74919633:A:G p.(Met298Thr) NC_000017.11:74919633:A:G p.(Met298Thr) NC_000017.11:74919633:A:G Identity +NM_001291411.2:c.1292C>A NP_001278340.2:p.Pro431His NC_000021.9:33550522:C:A p.(Pro431His) NC_000021.9:33550522:C:A p.(Pro431His) NC_000021.9:33550522:C:A Identity +NM_002336.3:c.220G>A NP_002327.2:p.Ala74Thr NC_000012.12:12244490:C:T p.(Ala74Thr) NC_000012.12:12244490:C:T p.(Ala74Thr) NC_000012.12:12244490:C:T Identity +NM_006785.4:c.364C>T NP_006776.1:p.Leu122Phe NC_000018.10:58681323:C:T p.(Leu122Phe) NC_000018.10:58681323:C:T p.(Leu122Phe) NC_000018.10:58681323:C:T Identity +NM_001080522.2:c.2077G>A NP_001073991.2:p.Val693Met NC_000004.12:15540909:G:A p.(Val693Met) NC_000004.12:15540909:G:A p.(Val693Met) NC_000004.12:15540909:G:A Identity +NM_006073.4:c.1804A>T NP_006064.2:p.Lys602Ter NC_000006.12:123265317:T:A p.(Lys602Ter) NC_000006.12:123265317:T:A p.(Lys602Ter) NC_000006.12:123265317:T:A Identity +NM_000535.7:c.2144A>G NP_000526.2:p.His715Arg NC_000007.14:5982853:T:C p.(His715Arg) NC_000007.14:5982853:T:C p.(His715Arg) NC_000007.14:5982853:T:C Identity +NM_024675.4:c.2789A>C NP_078951.2:p.Asn930Thr NC_000016.10:23624053:T:G p.(Asn930Thr) NC_000016.10:23624053:T:G p.(Asn930Thr) NC_000016.10:23624053:T:G Identity +NM_001330360.2:c.290G>T NP_001317289.1:p.Gly97Val NC_000023.11:24704412:G:T p.(Gly97Val) NC_000023.11:24704412:G:T p.(Gly97Val) NC_000023.11:24704412:G:T Identity +NM_001184.4:c.2158G>C NP_001175.2:p.Gly720Arg NC_000003.12:142556059:C:G p.(Gly720Arg) NC_000003.12:142556059:C:G p.(Gly720Arg) NC_000003.12:142556059:C:G Identity +NM_017807.4:c.382G>A NP_060277.1:p.Val128Met NC_000014.9:20452002:C:T p.(Val128Met) NC_000014.9:20452002:C:T p.(Val128Met) NC_000014.9:20452002:C:T Identity +NM_001346897.2:c.1043A>C NP_001333826.1:p.Asp348Ala NC_000007.14:55156802:A:C p.(Asp348Ala) NC_000007.14:55156802:A:C p.(Asp348Ala) NC_000007.14:55156802:A:C Identity +NM_206933.4:c.6805G>T NP_996816.3:p.Gly2269Cys NC_000001.11:215993019:C:A p.(Gly2269Cys) NC_000001.11:215993019:C:A p.(Gly2269Cys) NC_000001.11:215993019:C:A Identity +NM_001024847.3:c.1230C>G NP_001020018.1:p.Ile410Met NC_000003.12:30672337:C:G p.(Ile410Met) NC_000003.12:30672337:C:G p.(Ile410Met) NC_000003.12:30672337:C:G Identity +NM_001271999.2:c.129A>G NP_001258928.1:p.Ile43Met NC_000001.11:62663039:T:C p.(Ile43Met) NC_000001.11:62663039:T:C p.(Ile43Met) NC_000001.11:62663039:T:C Identity +NM_001135242.2:c.38T>C NP_001128714.1:p.Val13Ala NC_000008.11:133284273:A:G p.(Val13Ala) NC_000008.11:133284273:A:G p.(Val13Ala) NC_000008.11:133284273:A:G Identity +NM_032119.4:c.1355G>A NP_115495.3:p.Ser452Asn NC_000005.10:90628677:G:A p.(Ser452Asn) NC_000005.10:90628677:G:A p.(Ser452Asn) NC_000005.10:90628677:G:A Identity +NM_000179.3:c.3808A>C NP_000170.1:p.Met1270Leu NC_000002.12:47806457:A:C p.(Met1270Leu) NC_000002.12:47806457:A:C p.(Met1270Leu) NC_000002.12:47806457:A:C Identity +NM_001199835.1:c.382G>C NP_001186764.1:p.Glu128Gln NC_000007.14:26371890:G:C p.(Glu128Gln) NC_000007.14:26371890:G:C p.(Glu128Gln) NC_000007.14:26371890:G:C Identity +NM_080473.5:c.740_741delinsTA NP_536721.1:p.His247Leu NC_000020.11:62466509:GT:TA p.(His247Leu) NC_000020.11:62466509:GT:TA p.(His247Leu) NC_000020.11:62466509:GT:TA Identity +NM_006231.4:c.552C>G NP_006222.2:p.Ser184Arg NC_000012.12:132679522:G:C p.(Ser184Arg) NC_000012.12:132679522:G:C p.(Ser184Arg) NC_000012.12:132679522:G:C Identity +NM_001252650.2:c.467C>T NP_001239579.1:p.Thr156Met NC_000014.9:67685191:G:A p.(Thr156Met) NC_000014.9:67685191:G:A p.(Thr156Met) NC_000014.9:67685191:G:A Identity +NM_001243342.2:c.2539A>T NP_001230271.1:p.Met847Leu NC_000017.11:80087695:A:T p.(Met847Leu) NC_000017.11:80087695:A:T p.(Met847Leu) NC_000017.11:80087695:A:T Identity +NM_017890.5:c.3587G>T NP_060360.3:p.Gly1196Val NC_000008.11:99467554:G:T p.(Gly1196Val) NC_000008.11:99467554:G:T p.(Gly1196Val) NC_000008.11:99467554:G:T Identity +NM_000921.5:c.3283C>T NP_000912.3:p.Arg1095Trp NC_000012.12:20680127:C:T p.(Arg1095Trp) NC_000012.12:20680127:C:T p.(Arg1095Trp) NC_000012.12:20680127:C:T Identity +NM_001184900.3:c.1057C>G NP_001171829.1:p.Arg353Gly NC_000019.10:48221833:G:C p.(Arg353Gly) NC_000019.10:48221833:G:C p.(Arg353Gly) NC_000019.10:48221833:G:C Identity +NM_000395.3:c.892G>A NP_000386.1:p.Gly298Ser NC_000022.11:36930709:G:A p.(Gly298Ser) NC_000022.11:36930709:G:A p.(Gly298Ser) NC_000022.11:36930709:G:A Identity +NM_005876.5:c.8768A>T NP_005867.3:p.Glu2923Val NC_000002.12:219489785:A:T p.(Glu2923Val) NC_000002.12:219489785:A:T p.(Glu2923Val) NC_000002.12:219489785:A:T Identity +NM_000393.5:c.1973C>A NP_000384.2:p.Pro658Gln NC_000002.12:189062868:G:T p.(Pro658Gln) NC_000002.12:189062868:G:T p.(Pro658Gln) NC_000002.12:189062868:G:T Identity +NM_001029882.3:c.1081G>A NP_001025053.1:p.Glu361Lys NC_000001.11:27551034:C:T p.(Glu361Lys) NC_000001.11:27551034:C:T p.(Glu361Lys) NC_000001.11:27551034:C:T Identity +NM_003673.4:c.450dup NP_003664.1:p.Ala151fs NC_000017.11:39666054:T:TT p.(Ala151CysfsTer58) NC_000017.11:39666054:T:TT p.(Ala151CysfsTer58) ERR:SPDI Analogous +NM_005630.3:c.310G>A NP_005621.2:p.Gly104Arg NC_000003.12:133973749:C:T p.(Gly104Arg) NC_000003.12:133973749:C:T p.(Gly104Arg) NC_000003.12:133973749:C:T Identity +NM_000268.4:c.517G>A NP_000259.1:p.Val173Ile NC_000022.11:29655593:G:A p.(Val173Ile) NC_000022.11:29655593:G:A p.(Val173Ile) NC_000022.11:29655593:G:A Identity +NM_000057.4:c.2273C>T NP_000048.1:p.Pro758Leu NC_000015.10:90766988:C:T p.(Pro758Leu) NC_000015.10:90766988:C:T p.(Pro758Leu) NC_000015.10:90766988:C:T Identity +NM_004998.4:c.775C>G NP_004989.2:p.Leu259Val NC_000015.10:59224690:G:C p.(Leu259Val) NC_000015.10:59224690:G:C p.(Leu259Val) NC_000015.10:59224690:G:C Identity +NM_001195302.2:c.538C>T NP_001182231.1:p.Leu180Phe NC_000016.10:58017421:C:T p.(Leu180Phe) NC_000016.10:58017421:C:T p.(Leu180Phe) NC_000016.10:58017421:C:T Identity +NM_001172309.2:c.172G>C NP_001165780.1:p.Glu58Gln NC_000001.11:77918189:G:C p.(Glu58Gln) NC_000001.11:77918189:G:C p.(Glu58Gln) NC_000001.11:77918189:G:C Identity +NM_000482.4:c.481G>A NP_000473.2:p.Ala161Thr NC_000011.10:116821576:C:T p.(Ala161Thr) NC_000011.10:116821576:C:T p.(Ala161Thr) NC_000011.10:116821576:C:T Identity +NM_032444.4:c.5318A>G NP_115820.2:p.Tyr1773Cys NC_000016.10:3582528:T:C p.(Tyr1773Cys) NC_000016.10:3582528:T:C p.(Tyr1773Cys) NC_000016.10:3582528:T:C Identity +NM_016653.3:c.1656ATT[1] NP_057737.2:p.Leu553del NC_000002.12:173263848:ATTATT:ATT p.(Leu553del) NC_000002.12:173263848:A:ATT ERR:Parse ERR:Parse Identity +NM_032242.4:c.3110A>G NP_115618.3:p.Asn1037Ser NC_000003.12:127016611:A:G p.(Asn1037Ser) NC_000003.12:127016611:A:G p.(Asn1037Ser) NC_000003.12:127016611:A:G Identity +NM_024529.5:c.1246G>C NP_078805.3:p.Gly416Arg NC_000001.11:193233083:G:C p.(Gly416Arg) NC_000001.11:193233083:G:C p.(Gly416Arg) NC_000001.11:193233083:G:C Identity +NM_001174063.2:c.2364_2365del NP_001167534.1:p.Glu790fs NC_000008.11:38413725:CT: p.(Glu790GlyfsTer7) NC_000008.11:38413725:CT: p.(Glu790GlyfsTer7) NC_000008.11:38413725:CT: Analogous +NM_015072.5:c.1705C>T NP_055887.3:p.Pro569Ser NC_000014.9:75764768:C:T p.(Pro569Ser) NC_000014.9:75764768:C:T p.(Pro569Ser) NC_000014.9:75764768:C:T Identity +NM_001127897.4:c.2017A>G NP_001121369.1:p.Ile673Val NC_000016.10:53652669:T:C p.(Ile673Val) NC_000016.10:53652669:T:C p.(Ile673Val) NC_000016.10:53652669:T:C Identity +NM_001379200.1:c.1196G>C NP_001366129.1:p.Gly399Ala NC_000022.11:19766547:G:C p.(Gly399Ala) NC_000022.11:19766547:G:C p.(Gly399Ala) NC_000022.11:19766547:G:C Identity +NM_000455.5:c.865A>T NP_000446.1:p.Met289Leu NC_000019.10:1221950:A:T p.(Met289Leu) NC_000019.10:1221950:A:T p.(Met289Leu) NC_000019.10:1221950:A:T Identity +NM_001256534.2:c.139A>G NP_001243463.1:p.Ile47Val NC_000022.11:19178216:T:C p.(Ile47Val) NC_000022.11:19178216:T:C p.(Ile47Val) NC_000022.11:19178216:T:C Identity +NM_001177984.3:c.1657T>C NP_001171455.1:p.Ser553Pro NC_000012.12:51721566:T:C p.(Ser553Pro) NC_000012.12:51721566:T:C p.(Ser553Pro) NC_000012.12:51721566:T:C Identity +NM_000836.4:c.2858G>A NP_000827.2:p.Gly953Glu NC_000019.10:48442783:G:A p.(Gly953Glu) NC_000019.10:48442783:G:A p.(Gly953Glu) NC_000019.10:48442783:G:A Identity +NM_000090.4:c.961G>A NP_000081.2:p.Gly321Ser NC_000002.12:188992192:G:A p.(Gly321Ser) NC_000002.12:188992192:G:A p.(Gly321Ser) NC_000002.12:188992192:G:A Identity +NM_002876.4:c.17T>G NP_002867.1:p.Phe6Cys NC_000017.11:58692659:T:G p.(Phe6Cys) NC_000017.11:58692659:T:G p.(Phe6Cys) NC_000017.11:58692659:T:G Identity +NM_001160210.2:c.1640C>G NP_001153682.1:p.Thr547Arg NC_000007.14:96121951:G:C p.(Thr547Arg) NC_000007.14:96121951:G:C p.(Thr547Arg) NC_000007.14:96121951:G:C Identity +NM_015909.4:c.934A>T NP_056993.2:p.Ser312Cys NC_000002.12:15504164:T:A p.(Ser312Cys) NC_000002.12:15504164:T:A p.(Ser312Cys) NC_000002.12:15504164:T:A Identity +NM_033087.4:c.676T>A NP_149078.1:p.Phe226Ile NC_000009.12:99218508:A:T p.(Phe226Ile) NC_000009.12:99218508:A:T p.(Phe226Ile) NC_000009.12:99218508:A:T Identity +NM_000553.6:c.1344G>A NP_000544.2:p.Met448Ile NC_000008.11:31083772:G:A p.(Met448Ile) NC_000008.11:31083772:G:A p.(Met448Ile) NC_000008.11:31083772:G:A Identity +NM_001354609.2:c.1582G>C NP_001341538.1:p.Val528Leu NC_000007.14:140777023:C:G p.(Val528Leu) NC_000007.14:140777023:C:G p.(Val528Leu) NC_000007.14:140777023:C:G Identity +NM_001143850.3:c.704G>A NP_001137322.1:p.Cys235Tyr NC_000012.12:123686977:G:A p.(Cys235Tyr) NC_000012.12:123686977:G:A p.(Cys235Tyr) NC_000012.12:123686977:G:A Identity +NM_001375.3:c.647C>T NP_001366.1:p.Thr216Ile NC_000019.10:12878443:G:A p.(Thr216Ile) NC_000019.10:12878443:G:A p.(Thr216Ile) NC_000019.10:12878443:G:A Identity +NM_000812.4:c.86A>G NP_000803.2:p.Asn29Ser NC_000004.12:47031918:A:G p.(Asn29Ser) NC_000004.12:47031918:A:G p.(Asn29Ser) NC_000004.12:47031918:A:G Identity +NM_001069.3:c.982G>A NP_001060.1:p.Glu328Lys NC_000006.12:3154218:C:T p.(Glu328Lys) NC_000006.12:3154218:C:T p.(Glu328Lys) NC_000006.12:3154218:C:T Identity +NM_030665.4:c.3445C>T NP_109590.3:p.Arg1149Cys NC_000017.11:17796392:C:T p.(Arg1149Cys) NC_000017.11:17796392:C:T p.(Arg1149Cys) NC_000017.11:17796392:C:T Identity +NM_001111034.3:c.766G>A NP_001104504.1:p.Val256Met NC_000019.10:11575221:C:T p.(Val256Met) NC_000019.10:11575221:C:T p.(Val256Met) NC_000019.10:11575221:C:T Identity +NM_001346899.2:c.3206C>T NP_001333828.1:p.Pro1069Leu NC_000007.14:55205324:C:T p.(Pro1069Leu) NC_000007.14:55205324:C:T p.(Pro1069Leu) NC_000007.14:55205324:C:T Identity +NM_000263.4:c.709G>A NP_000254.2:p.Gly237Ser NC_000017.11:42538699:G:A p.(Gly237Ser) NC_000017.11:42538699:G:A p.(Gly237Ser) NC_000017.11:42538699:G:A Identity +NM_001185039.2:c.1601G>A NP_001171968.1:p.Gly534Glu NC_000017.11:75949229:C:T p.(Gly534Glu) NC_000017.11:75949229:C:T p.(Gly534Glu) NC_000017.11:75949229:C:T Identity +NM_032043.3:c.2768T>C NP_114432.2:p.Leu923Pro NC_000017.11:61685972:A:G p.(Leu923Pro) NC_000017.11:61685972:A:G p.(Leu923Pro) NC_000017.11:61685972:A:G Identity +NM_001256850.1:c.3817G>T NP_001243779.1:p.Glu1273Ter NC_000002.12:178779374:C:A p.(Glu1273Ter) NC_000002.12:178779374:C:A p.(Glu1273Ter) NC_000002.12:178779374:C:A Identity +NM_001297764.2:c.535C>A NP_001284693.1:p.Pro179Thr NC_000011.10:17526796:G:T p.(Pro179Thr) NC_000011.10:17526796:G:T p.(Pro179Thr) NC_000011.10:17526796:G:T Identity +NM_000076.2:c.171C>A NP_000067.1:p.Asp57Glu NC_000011.10:2885318:G:T p.(Asp57Glu) NC_000011.10:2885318:G:T p.(Asp57Glu) NC_000011.10:2885318:G:T Identity +NM_001166111.2:c.2617T>C NP_001159583.1:p.Cys873Arg NC_000019.10:7554675:T:C p.(Cys873Arg) NC_000019.10:7554675:T:C p.(Cys873Arg) NC_000019.10:7554675:T:C Identity +NM_001330454.2:c.630_631delinsGC NP_001317383.1:p.Ala211Pro NC_000016.10:3519952:AG:GC p.(Ala211Pro) NC_000016.10:3519952:AG:GC p.(Ala211Pro) NC_000016.10:3519952:AG:GC Identity +NM_001261406.2:c.5071C>T NP_001248335.1:p.Leu1691Phe NC_000009.12:13121799:G:A p.(Leu1691Phe) NC_000009.12:13121799:G:A p.(Leu1691Phe) NC_000009.12:13121799:G:A Identity +NM_001258206.2:c.2201C>A NP_001245135.1:p.Ser734Tyr NC_000019.10:6853013:C:A p.(Ser734Tyr) NC_000019.10:6853013:C:A p.(Ser734Tyr) NC_000019.10:6853013:C:A Identity +NM_002439.5:c.3044G>A NP_002430.3:p.Cys1015Tyr NC_000005.10:80864855:G:A p.(Cys1015Tyr) NC_000005.10:80864855:G:A p.(Cys1015Tyr) NC_000005.10:80864855:G:A Identity +NM_001166108.2:c.2482T>C NP_001159580.1:p.Phe828Leu NC_000004.12:168903765:T:C p.(Phe828Leu) NC_000004.12:168903765:T:C p.(Phe828Leu) NC_000004.12:168903765:T:C Identity +NM_000704.3:c.598G>A NP_000695.2:p.Asp200Asn NC_000019.10:35560551:C:T p.(Asp200Asn) NC_000019.10:35560551:C:T p.(Asp200Asn) NC_000019.10:35560551:C:T Identity +NM_002546.4:c.28G>A NP_002537.3:p.Val10Met NC_000008.11:118951793:C:T p.(Val10Met) NC_000008.11:118951793:C:T p.(Val10Met) NC_000008.11:118951793:C:T Identity +NM_033071.5:c.19160T>C NP_149062.2:p.Leu6387Ser NC_000006.12:152254976:A:G p.(Leu6387Ser) NC_000006.12:152254976:A:G p.(Leu6387Ser) NC_000006.12:152254976:A:G Identity +NM_005619.5:c.1146C>G NP_005610.1:p.His382Gln NC_000019.10:45489440:G:C p.(His382Gln) NC_000019.10:45489440:G:C p.(His382Gln) NC_000019.10:45489440:G:C Identity +NM_001256850.1:c.76004_76005del NP_001243779.1:p.Pro25335fs NC_000002.12:178565203:TG: p.(Pro25335ArgfsTer7) NC_000002.12:178565203:TG: p.(Pro25335ArgfsTer7) NC_000002.12:178565203:TG: Analogous +NM_000920.4:c.1673G>A NP_000911.2:p.Arg558Gln NC_000011.10:66852590:C:T p.(Arg558Gln) NC_000011.10:66852590:C:T p.(Arg558Gln) NC_000011.10:66852590:C:T Identity +NM_001346599.2:c.1126C>T NP_001333528.1:p.Leu376Phe NC_000007.14:105551595:C:T p.(Leu376Phe) NC_000007.14:105551595:C:T p.(Leu376Phe) NC_000007.14:105551595:C:T Identity +NM_001385907.1:c.1139C>T NP_001372836.1:p.Pro380Leu NC_000009.12:32488011:G:A p.(Pro380Leu) NC_000009.12:32488011:G:A p.(Pro380Leu) NC_000009.12:32488011:G:A Identity +NM_006231.4:c.536A>G NP_006222.2:p.Glu179Gly NC_000012.12:132679538:T:C p.(Glu179Gly) NC_000012.12:132679538:T:C p.(Glu179Gly) NC_000012.12:132679538:T:C Identity +NM_001363147.1:c.586T>C NP_001350076.1:p.Tyr196His NC_000005.10:71604429:T:C p.(Tyr196His) NC_000005.10:71604429:T:C p.(Tyr196His) NC_000005.10:71604429:T:C Identity +NM_001371986.1:c.7540G>T NP_001358915.1:p.Val2514Leu NC_000002.12:209957725:G:T p.(Val2514Leu) NC_000002.12:209957725:G:T p.(Val2514Leu) NC_000002.12:209957725:G:T Identity +NM_006946.4:c.1676T>C NP_008877.2:p.Leu559Pro NC_000011.10:66705814:A:G p.(Leu559Pro) NC_000011.10:66705814:A:G p.(Leu559Pro) NC_000011.10:66705814:A:G Identity +NM_000701.8:c.2677C>T NP_000692.2:p.Arg893Cys NC_000001.11:116400964:C:T p.(Arg893Cys) NC_000001.11:116400964:C:T p.(Arg893Cys) NC_000001.11:116400964:C:T Identity +NM_000426.4:c.9049C>T NP_000417.3:p.Pro3017Ser NC_000006.12:129514432:C:T p.(Pro3017Ser) NC_000006.12:129514432:C:T p.(Pro3017Ser) NC_000006.12:129514432:C:T Identity +NM_001350626.2:c.1685G>A NP_001337555.1:p.Arg562Gln NC_000007.14:2539263:C:T p.(Arg562Gln) NC_000007.14:2539263:C:T p.(Arg562Gln) NC_000007.14:2539263:C:T Identity +NM_000022.4:c.1040_1041insAT NP_000013.2:p.Tyr348fs NC_000020.11:44620336:A:ATA p.(Tyr348SerfsTer?) NC_000020.11:44620335:G:AT p.(Tyr348SerfsTer?) NC_000020.11:44620336:GA:AT Analogous +NM_006946.4:c.5308G>A NP_008877.2:p.Ala1770Thr NC_000011.10:66691540:C:T p.(Ala1770Thr) NC_000011.10:66691540:C:T p.(Ala1770Thr) NC_000011.10:66691540:C:T Identity +NM_000431.4:c.67G>A NP_000422.1:p.Val23Ile NC_000012.12:109574888:G:A p.(Val23Ile) NC_000012.12:109574888:G:A p.(Val23Ile) NC_000012.12:109574888:G:A Identity +NM_001306079.2:c.5881C>T NP_001293008.1:p.Arg1961Trp NC_000002.12:27242096:C:T p.(Arg1961Trp) NC_000002.12:27242096:C:T p.(Arg1961Trp) NC_000002.12:27242096:C:T Identity +NM_001300898.2:c.286G>C NP_001287827.1:p.Glu96Gln NC_000004.12:129039044:C:G p.(Glu96Gln) NC_000004.12:129039044:C:G p.(Glu96Gln) NC_000004.12:129039044:C:G Identity +NM_015662.3:c.3607C>G NP_056477.1:p.Leu1203Val NC_000002.12:27454085:G:C p.(Leu1203Val) NC_000002.12:27454085:G:C p.(Leu1203Val) NC_000002.12:27454085:G:C Identity +NM_001142800.2:c.1751A>C NP_001136272.1:p.Glu584Ala NC_000006.12:65334994:T:G p.(Glu584Ala) NC_000006.12:65334994:T:G p.(Glu584Ala) NC_000006.12:65334994:T:G Identity +NM_000051.4:c.581T>C NP_000042.3:p.Val194Ala NC_000011.10:108244036:T:C p.(Val194Ala) NC_000011.10:108244036:T:C p.(Val194Ala) NC_000011.10:108244036:T:C Identity +NM_001692.4:c.190del NP_001683.2:p.Glu64fs NC_000002.12:70958059:GG:G p.(Glu64ArgfsTer100) NC_000002.12:70958059:GG:G p.(Glu64ArgfsTer100) NC_000002.12:70958060:G: Analogous +NM_000426.4:c.4821A>C NP_000417.3:p.Lys1607Asn NC_000006.12:129366321:A:C p.(Lys1607Asn) NC_000006.12:129366321:A:C p.(Lys1607Asn) NC_000006.12:129366321:A:C Identity +NM_001003800.2:c.986C>A NP_001003800.1:p.Ser329Tyr NC_000009.12:92720375:G:T p.(Ser329Tyr) NC_000009.12:92720375:G:T p.(Ser329Tyr) NC_000009.12:92720375:G:T Identity +NM_001284301.3:c.2159C>T NP_001271230.1:p.Ala720Val NC_000007.14:36421962:C:T p.(Ala720Val) NC_000007.14:36421962:C:T p.(Ala720Val) NC_000007.14:36421962:C:T Identity +NM_014510.3:c.13252A>G NP_055325.2:p.Ile4418Val NC_000007.14:82914733:T:C p.(Ile4418Val) NC_000007.14:82914733:T:C p.(Ile4418Val) NC_000007.14:82914733:T:C Identity +NM_001258214.1:c.1938C>G NP_001245143.1:p.Phe646Leu NC_000001.11:67386660:C:G p.(Phe646Leu) NC_000001.11:67386660:C:G p.(Phe646Leu) NC_000001.11:67386660:C:G Identity +NM_000720.4:c.3428A>G NP_000711.1:p.Asn1143Ser NC_000003.12:53749320:A:G p.(Asn1143Ser) NC_000003.12:53749320:A:G p.(Asn1143Ser) NC_000003.12:53749320:A:G Identity +NM_000098.3:c.455C>G NP_000089.1:p.Ala152Gly NC_000001.11:53210128:C:G p.(Ala152Gly) NC_000001.11:53210128:C:G p.(Ala152Gly) NC_000001.11:53210128:C:G Identity +NM_005720.4:c.820G>A NP_005711.1:p.Ala274Thr NC_000007.14:99392706:G:A p.(Ala274Thr) NC_000007.14:99392706:G:A p.(Ala274Thr) NC_000007.14:99392706:G:A Identity +NM_021922.3:c.1517A>G NP_068741.1:p.Glu506Gly NC_000006.12:35466250:A:G p.(Glu506Gly) NC_000006.12:35466250:A:G p.(Glu506Gly) NC_000006.12:35466250:A:G Identity +NM_024928.5:c.691A>C NP_079204.2:p.Met231Leu NC_000010.11:103897609:T:G p.(Met231Leu) NC_000010.11:103897609:T:G p.(Met231Leu) NC_000010.11:103897609:T:G Identity +NM_001195286.2:c.36C>G NP_001182215.1:p.Phe12Leu NC_000006.12:393187:C:G p.(Phe12Leu) NC_000006.12:393187:C:G p.(Phe12Leu) NC_000006.12:393187:C:G Identity +NM_007123.6:c.69del NP_009054.6:p.Tyr24fs NC_000001.11:216422267:GG:G p.(Tyr24IlefsTer7) NC_000001.11:216422267:GG:G p.(Tyr24IlefsTer7) NC_000001.11:216422267:G: Analogous +NM_000260.4:c.1506G>T NP_000251.3:p.Lys502Asn NC_000011.10:77162281:G:T p.(Lys502Asn) NC_000011.10:77162281:G:T p.(Lys502Asn) NC_000011.10:77162281:G:T Identity +NM_032119.4:c.11003T>C NP_115495.3:p.Met3668Thr NC_000005.10:90750578:T:C p.(Met3668Thr) NC_000005.10:90750578:T:C p.(Met3668Thr) NC_000005.10:90750578:T:C Identity +NM_001199107.2:c.384C>G NP_001186036.1:p.Ile128Met NC_000016.10:2496531:C:G p.(Ile128Met) NC_000016.10:2496531:C:G p.(Ile128Met) NC_000016.10:2496531:C:G Identity +NM_030665.4:c.4999T>C NP_109590.3:p.Ser1667Pro NC_000017.11:17797946:T:C p.(Ser1667Pro) NC_000017.11:17797946:T:C p.(Ser1667Pro) NC_000017.11:17797946:T:C Identity +NM_000784.4:c.1457T>C NP_000775.1:p.Met486Thr NC_000002.12:218814737:T:C p.(Met486Thr) NC_000002.12:218814737:T:C p.(Met486Thr) NC_000002.12:218814737:T:C Identity +NM_001318245.2:c.6943G>A NP_001305174.1:p.Glu2315Lys NC_000022.11:26026913:G:A p.(Glu2315Lys) NC_000022.11:26026913:G:A p.(Glu2315Lys) NC_000022.11:26026913:G:A Identity +NM_000495.5:c.5011T>G NP_000486.1:p.Leu1671Val NC_000023.11:108696330:T:G p.(Leu1671Val) NC_000023.11:108696330:T:G p.(Leu1671Val) NC_000023.11:108696330:T:G Identity +NM_001082537.3:c.469A>G NP_001076006.1:p.Asn157Asp NC_000012.12:110626488:A:G p.(Asn157Asp) NC_000012.12:110626488:A:G p.(Asn157Asp) NC_000012.12:110626488:A:G Identity +NM_001189.4:c.57C>G NP_001180.1:p.Asn19Lys NC_000004.12:13544357:G:C p.(Asn19Lys) NC_000004.12:13544357:G:C p.(Asn19Lys) NC_000004.12:13544357:G:C Identity +NM_001407051.1:c.113C>T NP_001393980.1:p.Thr38Met NC_000011.10:32427967:G:A p.(Thr38Met) NC_000011.10:32427967:G:A p.(Thr38Met) NC_000011.10:32427967:G:A Identity +NM_001304482.2:c.3286C>T NP_001291411.1:p.Arg1096Trp NC_000003.12:47411461:C:T p.(Arg1096Trp) NC_000003.12:47411461:C:T p.(Arg1096Trp) NC_000003.12:47411461:C:T Identity +NM_001367624.2:c.8114G>T NP_001354553.1:p.Gly2705Val NC_000016.10:88435583:G:T p.(Gly2705Val) NC_000016.10:88435583:G:T p.(Gly2705Val) NC_000016.10:88435583:G:T Identity +NM_001363227.2:c.1951A>G NP_001350156.1:p.Ile651Val NC_000008.11:43199524:A:G p.(Ile651Val) NC_000008.11:43199524:A:G p.(Ile651Val) NC_000008.11:43199524:A:G Identity +NM_000038.6:c.152T>C NP_000029.2:p.Leu51Pro NC_000005.10:112766341:T:C p.(Leu51Pro) NC_000005.10:112766341:T:C p.(Leu51Pro) NC_000005.10:112766341:T:C Identity +NM_005914.4:c.742C>T NP_005905.2:p.Arg248Cys NC_000008.11:47964621:C:T p.(Arg248Cys) NC_000008.11:47964621:C:T p.(Arg248Cys) NC_000008.11:47964621:C:T Identity +NM_002661.5:c.3423G>A NP_002652.2:p.Met1141Ile NC_000016.10:81940000:G:A p.(Met1141Ile) NC_000016.10:81940000:G:A p.(Met1141Ile) NC_000016.10:81940000:G:A Identity +NM_001122681.2:c.509del NP_001116153.1:p.Asp170fs NC_000004.12:2827309:A: p.(Asp170AlafsTer29) NC_000004.12:2827309:A: p.(Asp170AlafsTer29) NC_000004.12:2827309:A: Analogous +NM_024306.5:c.646C>G NP_077282.3:p.Pro216Ala NC_000016.10:74719127:G:C p.(Pro216Ala) NC_000016.10:74719127:G:C p.(Pro216Ala) NC_000016.10:74719127:G:C Identity +NM_001190799.2:c.224C>A NP_001177728.1:p.Pro75His NC_000004.12:127883535:C:A p.(Pro75His) NC_000004.12:127883535:C:A p.(Pro75His) NC_000004.12:127883535:C:A Identity +NM_001379469.1:c.10A>G NP_001366398.1:p.Thr4Ala NC_000003.12:196708647:T:C p.(Thr4Ala) NC_000003.12:196708647:T:C p.(Thr4Ala) NC_000003.12:196708647:T:C Identity +NM_017890.5:c.8825C>G NP_060360.3:p.Ser2942Trp NC_000008.11:99819539:C:G p.(Ser2942Trp) NC_000008.11:99819539:C:G p.(Ser2942Trp) NC_000008.11:99819539:C:G Identity +NM_007055.4:c.310A>G NP_008986.2:p.Ile104Val NC_000010.11:78025629:T:C p.(Ile104Val) NC_000010.11:78025629:T:C p.(Ile104Val) NC_000010.11:78025629:T:C Identity +NM_001371986.1:c.1079G>C NP_001358915.1:p.Arg360Pro NC_000002.12:209813719:G:C p.(Arg360Pro) NC_000002.12:209813719:G:C p.(Arg360Pro) NC_000002.12:209813719:G:C Identity +NM_001144769.5:c.15659G>C NP_001138241.1:p.Ser5220Thr NC_000006.12:56472200:C:G p.(Ser5220Thr) NC_000006.12:56472200:C:G p.(Ser5220Thr) NC_000006.12:56472200:C:G Identity +NM_005677.4:c.191C>T NP_005668.2:p.Pro64Leu NC_000003.12:15489552:G:A p.(Pro64Leu) NC_000003.12:15489552:G:A p.(Pro64Leu) NC_000003.12:15489552:G:A Identity +NM_001308006.2:c.1150C>T NP_001294935.1:p.Arg384Trp NC_000018.10:49583769:C:T p.(Arg384Trp) NC_000018.10:49583769:C:T p.(Arg384Trp) NC_000018.10:49583769:C:T Identity +NM_001080467.3:c.4558A>G NP_001073936.1:p.Lys1520Glu NC_000018.10:49843293:T:C p.(Lys1520Glu) NC_000018.10:49843293:T:C p.(Lys1520Glu) NC_000018.10:49843293:T:C Identity +NM_001270459.2:c.893C>A NP_001257388.1:p.Thr298Lys NC_000001.11:43920872:C:A p.(Thr298Lys) NC_000001.11:43920872:C:A p.(Thr298Lys) NC_000001.11:43920872:C:A Identity +NM_001282368.2:c.438del NP_001269297.1:p.Glu147fs NC_000006.12:76018852:T: p.(Glu147LysfsTer19) NC_000006.12:76018852:T: p.(Glu147LysfsTer19) NC_000006.12:76018852:T: Analogous +NM_022726.4:c.436dup NP_073563.1:p.Ile146fs NC_000006.12:79921729:T:TT p.(Ile146AsnfsTer29) NC_000006.12:79921729:T:TT p.(Ile146AsnfsTer29) ERR:SPDI Analogous +NM_001352019.2:c.49C>G NP_001338948.1:p.Leu17Val NC_000016.10:954483:G:C p.(Leu17Val) NC_000016.10:954483:G:C p.(Leu17Val) NC_000016.10:954483:G:C Identity +NM_001160036.2:c.2041G>A NP_001153508.1:p.Glu681Lys NC_000008.11:23017259:G:A p.(Glu681Lys) NC_000008.11:23017259:G:A p.(Glu681Lys) NC_000008.11:23017259:G:A Identity +NM_001256850.1:c.96988A>C NP_001243779.1:p.Asn32330His NC_000002.12:178534703:T:G p.(Asn32330His) NC_000002.12:178534703:T:G p.(Asn32330His) NC_000002.12:178534703:T:G Identity +NM_001182.5:c.2T>A NP_001173.2:p.Met1Lys NC_000005.10:126595196:A:T p.(Met1Lys) NC_000005.10:126595196:A:T p.Met1? NC_000005.10:126595196:A:T Identity +NM_001371986.1:c.2471G>A NP_001358915.1:p.Arg824Gln NC_000002.12:209826045:G:A p.(Arg824Gln) NC_000002.12:209826045:G:A p.(Arg824Gln) NC_000002.12:209826045:G:A Identity +NM_001098398.2:c.293C>T NP_001091868.1:p.Thr98Ile NC_000001.11:160335257:G:A p.(Thr98Ile) NC_000001.11:160335257:G:A p.(Thr98Ile) NC_000001.11:160335257:G:A Identity +NM_032444.4:c.2881C>A NP_115820.2:p.Pro961Thr NC_000016.10:3590756:G:T p.(Pro961Thr) NC_000016.10:3590756:G:T p.(Pro961Thr) NC_000016.10:3590756:G:T Identity +NM_000785.4:c.986C>T NP_000776.1:p.Ala329Val NC_000012.12:57764527:G:A p.(Ala329Val) NC_000012.12:57764527:G:A p.(Ala329Val) NC_000012.12:57764527:G:A Identity +NM_001319210.2:c.542A>G NP_001306139.1:p.Asn181Ser NC_000001.11:100455426:A:G p.(Asn181Ser) NC_000001.11:100455426:A:G p.(Asn181Ser) NC_000001.11:100455426:A:G Identity +NM_000211.5:c.796G>A NP_000202.3:p.Gly266Ser NC_000021.9:44900420:C:T p.(Gly266Ser) NC_000021.9:44900420:C:T p.(Gly266Ser) NC_000021.9:44900420:C:T Identity +NM_001278.5:c.1136G>A NP_001269.3:p.Cys379Tyr NC_000010.11:100207324:C:T p.(Cys379Tyr) NC_000010.11:100207324:C:T p.(Cys379Tyr) NC_000010.11:100207324:C:T Identity +NM_001035.3:c.7326G>A NP_001026.2:p.Met2442Ile NC_000001.11:237643430:G:A p.(Met2442Ile) NC_000001.11:237643430:G:A p.(Met2442Ile) NC_000001.11:237643430:G:A Identity +NM_013339.4:c.529G>A NP_037471.2:p.Gly177Ser NC_000001.11:63411179:G:A p.(Gly177Ser) NC_000001.11:63411179:G:A p.(Gly177Ser) NC_000001.11:63411179:G:A Identity +NM_000709.4:c.35G>A NP_000700.1:p.Arg12Gln NC_000019.10:41397861:G:A p.(Arg12Gln) NC_000019.10:41397861:G:A p.(Arg12Gln) NC_000019.10:41397861:G:A Identity +NM_000051.4:c.5465A>C NP_000042.3:p.Glu1822Ala NC_000011.10:108302997:A:C p.(Glu1822Ala) NC_000011.10:108302997:A:C p.(Glu1822Ala) NC_000011.10:108302997:A:C Identity +NM_014384.3:c.965T>G NP_055199.1:p.Met322Arg NC_000011.10:134261762:T:G p.(Met322Arg) NC_000011.10:134261762:T:G p.(Met322Arg) NC_000011.10:134261762:T:G Identity +NM_000393.5:c.1171C>T NP_000384.2:p.Pro391Ser NC_000002.12:189068871:G:A p.(Pro391Ser) NC_000002.12:189068871:G:A p.(Pro391Ser) NC_000002.12:189068871:G:A Identity +NM_014510.3:c.6368C>T NP_055325.2:p.Ala2123Val NC_000007.14:82954584:G:A p.(Ala2123Val) NC_000007.14:82954584:G:A p.(Ala2123Val) NC_000007.14:82954584:G:A Identity +NM_001261406.2:c.2769G>A NP_001248335.1:p.Met923Ile NC_000009.12:13176297:C:T p.(Met923Ile) NC_000009.12:13176297:C:T p.(Met923Ile) NC_000009.12:13176297:C:T Identity +NM_001271769.2:c.892A>G NP_001258698.1:p.Arg298Gly NC_000005.10:78177339:T:C p.(Arg298Gly) NC_000005.10:78177339:T:C p.(Arg298Gly) NC_000005.10:78177339:T:C Identity +NM_001144881.2:c.987C>G NP_001138353.1:p.Asp329Glu NC_000012.12:42465046:G:C p.(Asp329Glu) NC_000012.12:42465046:G:C p.(Asp329Glu) NC_000012.12:42465046:G:C Identity +NM_006204.4:c.144G>T NP_006195.3:p.Met48Ile NC_000010.11:93612868:G:T p.(Met48Ile) NC_000010.11:93612868:G:T p.(Met48Ile) NC_000010.11:93612868:G:T Identity +NM_001130455.2:c.5336T>C NP_001123927.1:p.Ile1779Thr NC_000002.12:71667507:T:C p.(Ile1779Thr) NC_000002.12:71667507:T:C p.(Ile1779Thr) NC_000002.12:71667507:T:C Identity +NM_020928.2:c.2711G>A NP_065979.1:p.Arg904Gln NC_000005.10:61541890:G:A p.(Arg904Gln) NC_000005.10:61541890:G:A p.(Arg904Gln) NC_000005.10:61541890:G:A Identity +NM_001142800.2:c.4219C>T NP_001136272.1:p.Gln1407Ter NC_000006.12:64591647:G:A p.(Gln1407Ter) NC_000006.12:64591647:G:A p.(Gln1407Ter) NC_000006.12:64591647:G:A Identity +NM_003108.4:c.376A>G NP_003099.1:p.Met126Val NC_000002.12:5693096:A:G p.(Met126Val) NC_000002.12:5693096:A:G p.(Met126Val) NC_000002.12:5693096:A:G Identity +NM_001199922.2:c.1378dup NP_001186851.1:p.Tyr460fs NC_000011.10:124637039:A:AA p.(Tyr460LeufsTer5) NC_000011.10:124637039:A:AA p.(Tyr460LeufsTer5) ERR:SPDI Analogous +NM_000370.3:c.745G>A NP_000361.1:p.Glu249Lys NC_000008.11:63061343:C:T p.(Glu249Lys) NC_000008.11:63061343:C:T p.(Glu249Lys) NC_000008.11:63061343:C:T Identity +NM_001173425.2:c.252T>G NP_001166896.1:p.Ser84Arg NC_000009.12:114504549:A:C p.(Ser84Arg) NC_000009.12:114504549:A:C p.(Ser84Arg) NC_000009.12:114504549:A:C Identity +NM_006244.4:c.1461_1463del NP_006235.1:p.Pro488del NC_000011.10:64933809:CACC:C p.(Pro488del) NC_000011.10:64933809:CACC:C p.(Pro488del) NC_000011.10:64933810:ACC: Identity +NM_001005407.2:c.1658C>T NP_001005407.1:p.Ala553Val NC_000016.10:1202107:C:T p.(Ala553Val) NC_000016.10:1202107:C:T p.(Ala553Val) NC_000016.10:1202107:C:T Identity +NM_000426.4:c.3869A>G NP_000417.3:p.His1290Arg NC_000006.12:129315894:A:G p.(His1290Arg) NC_000006.12:129315894:A:G p.(His1290Arg) NC_000006.12:129315894:A:G Identity +NM_001269039.3:c.1598G>A NP_001255968.1:p.Arg533His NC_000010.11:111011804:G:A p.(Arg533His) NC_000010.11:111011804:G:A p.(Arg533His) NC_000010.11:111011804:G:A Identity +NM_001354705.2:c.923C>A NP_001341634.1:p.Thr308Asn NC_000012.12:57570058:C:A p.(Thr308Asn) NC_000012.12:57570058:C:A p.(Thr308Asn) NC_000012.12:57570058:C:A Identity +NM_001346083.2:c.2449A>G NP_001333012.1:p.Thr817Ala NC_000001.11:205070442:A:G p.(Thr817Ala) NC_000001.11:205070442:A:G p.(Thr817Ala) NC_000001.11:205070442:A:G Identity +NM_001386339.1:c.4147G>A NP_001373268.1:p.Ala1383Thr NC_000011.10:9812635:C:T p.(Ala1383Thr) NC_000011.10:9812635:C:T p.(Ala1383Thr) NC_000011.10:9812635:C:T Identity +NM_001270523.2:c.847T>A NP_001257452.1:p.Ser283Thr NC_000014.9:56801757:A:T p.(Ser283Thr) NC_000014.9:56801757:A:T p.(Ser283Thr) NC_000014.9:56801757:A:T Identity +NM_001371986.1:c.973C>T NP_001358915.1:p.Arg325Cys NC_000002.12:209813613:C:T p.(Arg325Cys) NC_000002.12:209813613:C:T p.(Arg325Cys) NC_000002.12:209813613:C:T Identity +NM_001080467.3:c.1116G>A NP_001073936.1:p.Met372Ile NC_000018.10:49974555:C:T p.(Met372Ile) NC_000018.10:49974555:C:T p.(Met372Ile) NC_000018.10:49974555:C:T Identity +NM_001199922.2:c.1092GAA[1] NP_001186851.1:p.Lys365del NC_000011.10:124638659:TTCTTCT:TTCT p.(Lys365del) NC_000011.10:124638664:C:TTC ERR:Parse ERR:Parse Identity +NM_000188.3:c.1691T>C NP_000179.2:p.Ile564Thr NC_000010.11:69384452:T:C p.(Ile564Thr) NC_000010.11:69384452:T:C p.(Ile564Thr) NC_000010.11:69384452:T:C Identity +NM_002500.5:c.197T>C NP_002491.3:p.Leu66Pro NC_000002.12:181678663:A:G p.(Leu66Pro) NC_000002.12:181678663:A:G p.(Leu66Pro) NC_000002.12:181678663:A:G Identity +NM_001286704.2:c.16C>T NP_001273633.1:p.Pro6Ser NC_000013.11:38350129:C:T p.(Pro6Ser) NC_000013.11:38350129:C:T p.(Pro6Ser) NC_000013.11:38350129:C:T Identity +NM_001330588.2:c.742A>G NP_001317517.1:p.Ile248Val NC_000013.11:102622997:A:G p.(Ile248Val) NC_000013.11:102622997:A:G p.(Ile248Val) NC_000013.11:102622997:A:G Identity +NM_006231.4:c.1774C>A NP_006222.2:p.Gln592Lys NC_000012.12:132672234:G:T p.(Gln592Lys) NC_000012.12:132672234:G:T p.(Gln592Lys) NC_000012.12:132672234:G:T Identity +NM_000350.3:c.796C>T NP_000341.2:p.Gln266Ter NC_000001.11:94083413:G:A p.(Gln266Ter) NC_000001.11:94083413:G:A p.(Gln266Ter) NC_000001.11:94083413:G:A Identity +NM_004531.5:c.61C>T NP_004522.1:p.Pro21Ser NC_000005.10:53107113:G:A p.(Pro21Ser) NC_000005.10:53107113:G:A p.(Pro21Ser) NC_000005.10:53107113:G:A Identity +NM_001165966.2:c.2689G>C NP_001159438.1:p.Asp897His NC_000017.11:6455465:C:G p.(Asp897His) NC_000017.11:6455465:C:G p.(Asp897His) NC_000017.11:6455465:C:G Identity +NM_001037343.2:c.993_994dup NP_001032420.1:p.Ser332fs NC_000023.11:18603914:AAAA:AAAAAA p.(Ser332LysfsTer19) NC_000023.11:18603914:AAAA:AAAAAA p.(Ser332LysfsTer19) ERR:SPDI Analogous +NM_001440.4:c.565C>A NP_001431.1:p.Pro189Thr NC_000008.11:28716623:C:A p.(Pro189Thr) NC_000008.11:28716623:C:A p.(Pro189Thr) NC_000008.11:28716623:C:A Identity +NM_001029883.3:c.3271C>T NP_001025054.1:p.Pro1091Ser NC_000002.12:29070990:G:A p.(Pro1091Ser) NC_000002.12:29070990:G:A p.(Pro1091Ser) NC_000002.12:29070990:G:A Identity +NM_001114377.2:c.1001G>A NP_001107849.1:p.Arg334His NC_000023.11:49251703:C:T p.(Arg334His) NC_000023.11:49251703:C:T p.(Arg334His) NC_000023.11:49251703:C:T Identity +NM_003737.4:c.6761G>A NP_003728.1:p.Ser2254Asn NC_000011.10:6625697:C:T p.(Ser2254Asn) NC_000011.10:6625697:C:T p.(Ser2254Asn) NC_000011.10:6625697:C:T Identity +NM_000611.6:c.288T>G NP_000602.1:p.Phe96Leu NC_000011.10:33710224:A:C p.(Phe96Leu) NC_000011.10:33710224:A:C p.(Phe96Leu) NC_000011.10:33710224:A:C Identity +NM_020754.4:c.2195C>T NP_065805.2:p.Thr732Ile NC_000003.12:119414123:C:T p.(Thr732Ile) NC_000003.12:119414123:C:T p.(Thr732Ile) NC_000003.12:119414123:C:T Identity +NM_001271999.2:c.5873C>T NP_001258928.1:p.Thr1958Met NC_000001.11:62475761:G:A p.(Thr1958Met) NC_000001.11:62475761:G:A p.(Thr1958Met) NC_000001.11:62475761:G:A Identity +NM_014423.4:c.178G>A NP_055238.1:p.Asp60Asn NC_000005.10:132934886:C:T p.(Asp60Asn) NC_000005.10:132934886:C:T p.(Asp60Asn) NC_000005.10:132934886:C:T Identity +NM_017433.5:c.2879C>A NP_059129.3:p.Ala960Glu NC_000010.11:26157394:C:A p.(Ala960Glu) NC_000010.11:26157394:C:A p.(Ala960Glu) NC_000010.11:26157394:C:A Identity +NM_001114182.3:c.522G>T NP_001107654.1:p.Lys174Asn NC_000012.12:43772942:G:T p.(Lys174Asn) NC_000012.12:43772942:G:T p.(Lys174Asn) NC_000012.12:43772942:G:T Identity +NM_006206.6:c.2212G>A NP_006197.1:p.Asp738Asn NC_000004.12:54280370:G:A p.(Asp738Asn) NC_000004.12:54280370:G:A p.(Asp738Asn) NC_000004.12:54280370:G:A Identity +NM_020699.4:c.751G>A NP_065750.1:p.Ala251Thr NC_000001.11:153817520:C:T p.(Ala251Thr) NC_000001.11:153817520:C:T p.(Ala251Thr) NC_000001.11:153817520:C:T Identity +NM_000465.4:c.319C>A NP_000456.2:p.Leu107Ile NC_000002.12:214792341:G:T p.(Leu107Ile) NC_000002.12:214792341:G:T p.(Leu107Ile) NC_000002.12:214792341:G:T Identity +NM_007255.3:c.225C>A NP_009186.1:p.Cys75Ter NC_000005.10:177604352:C:A p.(Cys75Ter) NC_000005.10:177604352:C:A p.(Cys75Ter) NC_000005.10:177604352:C:A Identity +NM_001267722.2:c.35C>T NP_001254651.1:p.Pro12Leu NC_000004.12:56467669:C:T p.(Pro12Leu) NC_000004.12:56467669:C:T p.(Pro12Leu) NC_000004.12:56467669:C:T Identity +NM_001350626.2:c.115G>C NP_001337555.1:p.Val39Leu NC_000007.14:2554316:C:G p.(Val39Leu) NC_000007.14:2554316:C:G p.(Val39Leu) NC_000007.14:2554316:C:G Identity +NM_001077397.1:c.1024A>C NP_001070865.1:p.Lys342Gln NC_000001.11:234607828:T:G p.(Lys342Gln) NC_000001.11:234607828:T:G p.(Lys342Gln) NC_000001.11:234607828:T:G Identity +NM_002470.4:c.3138_3139delinsCA NP_002461.2:p.Val1047Ile NC_000017.11:10639152:CT:TG p.(Val1047Ile) NC_000017.11:10639152:CT:TG p.(Val1047Ile) NC_000017.11:10639152:CT:TG Identity +NM_001160130.2:c.2021A>G NP_001153602.1:p.Asn674Ser NC_000006.12:73194662:A:G p.(Asn674Ser) NC_000006.12:73194662:A:G p.(Asn674Ser) NC_000006.12:73194662:A:G Identity +NM_001377289.1:c.1316C>T NP_001364218.1:p.Pro439Leu NC_000006.12:70241437:G:A p.(Pro439Leu) NC_000006.12:70241437:G:A p.(Pro439Leu) NC_000006.12:70241437:G:A Identity +NM_006915.3:c.832C>T NP_008846.2:p.Gln278Ter NC_000023.11:46860050:C:T p.(Gln278Ter) NC_000023.11:46860050:C:T p.(Gln278Ter) NC_000023.11:46860050:C:T Identity +NM_001128228.3:c.1579C>T NP_001121700.2:p.Arg527Trp NC_000009.12:137199132:G:A p.(Arg527Trp) NC_000009.12:137199132:G:A p.(Arg527Trp) NC_000009.12:137199132:G:A Identity +NM_000531.6:c.614T>C NP_000522.3:p.Met205Thr NC_000023.11:38403690:T:C p.(Met205Thr) NC_000023.11:38403690:T:C p.(Met205Thr) NC_000023.11:38403690:T:C Identity +NM_001069.3:c.1057G>A NP_001060.1:p.Val353Met NC_000006.12:3154143:C:T p.(Val353Met) NC_000006.12:3154143:C:T p.(Val353Met) NC_000006.12:3154143:C:T Identity +NM_013382.7:c.1103C>T NP_037514.2:p.Ala368Val NC_000014.9:77296176:G:A p.(Ala368Val) NC_000014.9:77296176:G:A p.(Ala368Val) NC_000014.9:77296176:G:A Identity +NM_001942.4:c.1690G>A NP_001933.2:p.Val564Ile NC_000018.10:31343451:G:A p.(Val564Ile) NC_000018.10:31343451:G:A p.(Val564Ile) NC_000018.10:31343451:G:A Identity +NM_001317163.2:c.3724G>C NP_001304092.1:p.Asp1242His NC_000009.12:120976857:C:G p.(Asp1242His) NC_000009.12:120976857:C:G p.(Asp1242His) NC_000009.12:120976857:C:G Identity +NM_006949.4:c.1037A>T NP_008880.2:p.His346Leu NC_000019.10:7643174:A:T p.(His346Leu) NC_000019.10:7643174:A:T p.(His346Leu) NC_000019.10:7643174:A:T Identity +NM_001282489.3:c.202G>C NP_001269418.1:p.Glu68Gln NC_000017.11:74920324:C:G p.(Glu68Gln) NC_000017.11:74920324:C:G p.(Glu68Gln) NC_000017.11:74920324:C:G Identity +NM_004311.4:c.211C>T NP_004302.1:p.Gln71Ter NC_000010.11:102699425:G:A p.(Gln71Ter) NC_000010.11:102699425:G:A p.(Gln71Ter) NC_000010.11:102699425:G:A Identity +NM_032520.5:c.203C>A NP_115909.1:p.Ser68Ter NC_000016.10:1361766:C:A p.(Ser68Ter) NC_000016.10:1361766:C:A p.(Ser68Ter) NC_000016.10:1361766:C:A Identity +NM_030665.4:c.1744G>A NP_109590.3:p.Asp582Asn NC_000017.11:17794691:G:A p.(Asp582Asn) NC_000017.11:17794691:G:A p.(Asp582Asn) NC_000017.11:17794691:G:A Identity +NM_001077525.3:c.370C>T NP_001070993.1:p.Arg124Trp NC_000003.12:9662327:C:T p.(Arg124Trp) NC_000003.12:9662327:C:T p.(Arg124Trp) NC_000003.12:9662327:C:T Identity +NM_001353210.3:c.1193T>C NP_001340139.1:p.Ile398Thr NC_000018.10:49272232:A:G p.(Ile398Thr) NC_000018.10:49272232:A:G p.(Ile398Thr) NC_000018.10:49272232:A:G Identity +NM_001134363.3:c.536_537delinsTT NP_001127835.2:p.Gly179Val NC_000010.11:110781144:GC:TT p.(Gly179Val) NC_000010.11:110781144:GC:TT p.(Gly179Val) NC_000010.11:110781144:GC:TT Identity +NM_001318245.2:c.2291C>T NP_001305174.1:p.Ala764Val NC_000022.11:25781812:C:T p.(Ala764Val) NC_000022.11:25781812:C:T p.(Ala764Val) NC_000022.11:25781812:C:T Identity +NM_001278645.2:c.356G>A NP_001265574.1:p.Arg119Gln NC_000008.11:124549875:G:A p.(Arg119Gln) NC_000008.11:124549875:G:A p.(Arg119Gln) NC_000008.11:124549875:G:A Identity +NM_001368062.3:c.2492G>T NP_001354991.2:p.Cys831Phe NC_000012.12:80270127:G:T p.(Cys831Phe) NC_000012.12:80270127:G:T p.(Cys831Phe) NC_000012.12:80270127:G:T Identity +NM_001277269.2:c.6964C>A NP_001264198.1:p.Arg2322Ser NC_000011.10:17631916:C:A p.(Arg2322Ser) NC_000011.10:17631916:C:A p.(Arg2322Ser) NC_000011.10:17631916:C:A Identity +NM_001110556.2:c.6022G>C NP_001104026.1:p.Gly2008Arg NC_000023.11:154353295:C:G p.(Gly2008Arg) NC_000023.11:154353295:C:G p.(Gly2008Arg) NC_000023.11:154353295:C:G Identity +NM_000028.3:c.1963G>A NP_000019.2:p.Gly655Arg NC_000001.11:99881138:G:A p.(Gly655Arg) NC_000001.11:99881138:G:A p.(Gly655Arg) NC_000001.11:99881138:G:A Identity +NM_000050.4:c.944T>A NP_000041.2:p.Leu315Ter NC_000009.12:130489437:T:A p.(Leu315Ter) NC_000009.12:130489437:T:A p.(Leu315Ter) NC_000009.12:130489437:T:A Identity +NM_001291997.2:c.877C>G NP_001278926.1:p.Gln293Glu NC_000016.10:79211766:C:G p.(Gln293Glu) NC_000016.10:79211766:C:G p.(Gln293Glu) NC_000016.10:79211766:C:G Identity +NM_001271427.2:c.530T>A NP_001258356.1:p.Met177Lys NC_000001.11:19241121:A:T p.(Met177Lys) NC_000001.11:19241121:A:T p.(Met177Lys) NC_000001.11:19241121:A:T Identity +NM_001291285.3:c.14813G>T NP_001278214.1:p.Gly4938Val NC_000004.12:125491631:G:T p.(Gly4938Val) NC_000004.12:125491631:G:T p.(Gly4938Val) NC_000004.12:125491631:G:T Identity +NM_172201.2:c.345_346dup NP_751951.1:p.Ala116fs NC_000021.9:34370821:GTG:GTGTG p.(Ala116ValfsTer20) NC_000021.9:34370821:GTG:GTGTG p.(Ala116ValfsTer20) ERR:SPDI Analogous +NM_005559.4:c.8160A>C NP_005550.2:p.Gln2720His NC_000018.10:6955399:T:G p.(Gln2720His) NC_000018.10:6955399:T:G p.(Gln2720His) NC_000018.10:6955399:T:G Identity +NM_001083962.2:c.1135_1138dup NP_001077431.1:p.His380fs NC_000018.10:55257322:GTAAG:GTAAGTAAG p.(His380LeufsTer9) NC_000018.10:55257322:GTAAG:GTAAGTAAG p.(His380LeufsTer9) ERR:SPDI Analogous +NM_001304482.2:c.1852G>A NP_001291411.1:p.Glu618Lys NC_000003.12:47410027:G:A p.(Glu618Lys) NC_000003.12:47410027:G:A p.(Glu618Lys) NC_000003.12:47410027:G:A Identity +NM_001304481.2:c.1456A>C NP_001291410.1:p.Lys486Gln NC_000012.12:32611145:A:C p.(Lys486Gln) NC_000012.12:32611145:A:C p.(Lys486Gln) NC_000012.12:32611145:A:C Identity +NM_001130991.3:c.2420G>C NP_001124463.1:p.Gly807Ala NC_000011.10:119048036:C:G p.(Gly807Ala) NC_000011.10:119048036:C:G p.(Gly807Ala) NC_000011.10:119048036:C:G Identity +NM_004370.6:c.5202T>A NP_004361.3:p.Ser1734Arg NC_000006.12:75138475:A:T p.(Ser1734Arg) NC_000006.12:75138475:A:T p.(Ser1734Arg) NC_000006.12:75138475:A:T Identity +NM_052876.4:c.1332C>G NP_443108.1:p.Cys444Trp NC_000019.10:13138153:C:G p.(Cys444Trp) NC_000019.10:13138153:C:G p.(Cys444Trp) NC_000019.10:13138153:C:G Identity +NM_001195573.1:c.5122G>A NP_001182502.1:p.Gly1708Arg NC_000014.9:95094129:C:T p.(Gly1708Arg) NC_000014.9:95094129:C:T p.(Gly1708Arg) NC_000014.9:95094129:C:T Identity +NM_001042465.3:c.1115T>C NP_001035930.1:p.Leu372Pro NC_000010.11:71819799:A:G p.(Leu372Pro) NC_000010.11:71819799:A:G p.(Leu372Pro) NC_000010.11:71819799:A:G Identity +NM_001382708.1:c.46C>A NP_001369637.1:p.Arg16Ser NC_000002.12:219418507:C:A p.(Arg16Ser) NC_000002.12:219418507:C:A p.(Arg16Ser) NC_000002.12:219418507:C:A Identity +NM_001171933.1:c.1312C>T NP_001165404.1:p.Arg438Cys NC_000010.11:71805964:C:T p.(Arg438Cys) NC_000010.11:71805964:C:T p.(Arg438Cys) NC_000010.11:71805964:C:T Identity +NM_000540.3:c.11746A>G NP_000531.2:p.Ile3916Val NC_000019.10:38543402:A:G p.(Ile3916Val) NC_000019.10:38543402:A:G p.(Ile3916Val) NC_000019.10:38543402:A:G Identity +NM_021076.4:c.2713A>C NP_066554.2:p.Thr905Pro NC_000022.11:29490352:A:C p.(Thr905Pro) NC_000022.11:29490352:A:C p.(Thr905Pro) NC_000022.11:29490352:A:C Identity +NM_001206524.2:c.601G>T NP_001193453.1:p.Val201Leu NC_000002.12:201195864:G:T p.(Val201Leu) NC_000002.12:201195864:G:T p.(Val201Leu) NC_000002.12:201195864:G:T Identity +NM_000587.4:c.1895T>C NP_000578.2:p.Val632Ala NC_000005.10:40972414:T:C p.(Val632Ala) NC_000005.10:40972414:T:C p.(Val632Ala) NC_000005.10:40972414:T:C Identity +NM_001003679.3:c.296G>A NP_001003679.1:p.Cys99Tyr NC_000001.11:65570727:G:A p.(Cys99Tyr) NC_000001.11:65570727:G:A p.(Cys99Tyr) NC_000001.11:65570727:G:A Identity +NM_000327.4:c.604A>G NP_000318.2:p.Asn202Asp NC_000011.10:62614270:A:G p.(Asn202Asp) NC_000011.10:62614270:A:G p.(Asn202Asp) NC_000011.10:62614270:A:G Identity +NM_001204403.2:c.1430G>A NP_001191332.1:p.Arg477Gln NC_000010.11:60200171:C:T p.(Arg477Gln) NC_000010.11:60200171:C:T p.(Arg477Gln) NC_000010.11:60200171:C:T Identity +NM_001130916.3:c.41T>C NP_001124388.1:p.Leu14Pro NC_000009.12:99105245:T:C p.(Leu14Pro) NC_000009.12:99105245:T:C p.(Leu14Pro) NC_000009.12:99105245:T:C Identity +NM_001193300.2:c.1036A>G NP_001180229.1:p.Ile346Val NC_000001.11:156162995:A:G p.(Ile346Val) NC_000001.11:156162995:A:G p.(Ile346Val) NC_000001.11:156162995:A:G Identity +NM_001160227.2:c.959A>G NP_001153699.1:p.Asn320Ser NC_000015.10:44652176:T:C p.(Asn320Ser) NC_000015.10:44652176:T:C p.(Asn320Ser) NC_000015.10:44652176:T:C Identity +NM_001145412.3:c.971A>G NP_001138884.1:p.Asn324Ser NC_000002.12:177231583:T:C p.(Asn324Ser) NC_000002.12:177231583:T:C p.(Asn324Ser) NC_000002.12:177231583:T:C Identity +NM_152309.3:c.1026T>G NP_689522.2:p.Phe342Leu NC_000010.11:96648817:A:C p.(Phe342Leu) NC_000010.11:96648817:A:C p.(Phe342Leu) NC_000010.11:96648817:A:C Identity +NM_001018037.2:c.8977G>T NP_001018047.1:p.Glu2993Ter NC_000009.12:77381991:G:T p.(Glu2993Ter) NC_000009.12:77381991:G:T p.(Glu2993Ter) NC_000009.12:77381991:G:T Identity +NM_000293.3:c.14C>T NP_000284.1:p.Ala5Val NC_000016.10:47461363:C:T p.(Ala5Val) NC_000016.10:47461363:C:T p.(Ala5Val) NC_000016.10:47461363:C:T Identity +NM_001317061.3:c.1007G>C NP_001303990.1:p.Ser336Thr NC_000006.12:3105970:G:C p.(Ser336Thr) NC_000006.12:3105970:G:C p.(Ser336Thr) NC_000006.12:3105970:G:C Identity +NM_001130438.3:c.6100C>T NP_001123910.1:p.Gln2034Ter NC_000009.12:128625798:C:T p.(Gln2034Ter) NC_000009.12:128625798:C:T p.(Gln2034Ter) NC_000009.12:128625798:C:T Identity +NM_001306079.2:c.5560C>G NP_001293008.1:p.Leu1854Val NC_000002.12:27241167:C:G p.(Leu1854Val) NC_000002.12:27241167:C:G p.(Leu1854Val) NC_000002.12:27241167:C:G Identity +NM_001271466.4:c.848C>T NP_001258395.2:p.Ala283Val NC_000002.12:231240009:C:T p.(Ala283Val) NC_000002.12:231240009:C:T p.(Ala283Val) NC_000002.12:231240009:C:T Identity +NM_001083592.2:c.1052G>A NP_001077061.1:p.Arg351His NC_000001.11:64142527:G:A p.(Arg351His) NC_000001.11:64142527:G:A p.(Arg351His) NC_000001.11:64142527:G:A Identity +NM_000475.5:c.806T>G NP_000466.2:p.Val269Gly NC_000023.11:30308557:A:C p.(Val269Gly) NC_000023.11:30308557:A:C p.(Val269Gly) NC_000023.11:30308557:A:C Identity +NM_020778.5:c.4468C>T NP_065829.4:p.Arg1490Trp NC_000015.10:84863608:C:T p.(Arg1490Trp) NC_000015.10:84863608:C:T p.(Arg1490Trp) NC_000015.10:84863608:C:T Identity +NM_001127671.2:c.410A>G NP_001121143.1:p.Asp137Gly NC_000005.10:38523569:T:C p.(Asp137Gly) NC_000005.10:38523569:T:C p.(Asp137Gly) NC_000005.10:38523569:T:C Identity +NM_019109.5:c.296G>A NP_061982.3:p.Arg99Gln NC_000016.10:5073161:G:A p.(Arg99Gln) NC_000016.10:5073161:G:A p.(Arg99Gln) NC_000016.10:5073161:G:A Identity +NM_001284351.3:c.1960T>C NP_001271280.1:p.Ser654Pro NC_000005.10:476281:A:G p.(Ser654Pro) NC_000005.10:476281:A:G p.(Ser654Pro) NC_000005.10:476281:A:G Identity +NM_012092.4:c.584C>T NP_036224.1:p.Thr195Ile NC_000002.12:203957880:C:T p.(Thr195Ile) NC_000002.12:203957880:C:T p.(Thr195Ile) NC_000002.12:203957880:C:T Identity +NM_001318245.2:c.1781G>A NP_001305174.1:p.Arg594His NC_000022.11:25772421:G:A p.(Arg594His) NC_000022.11:25772421:G:A p.(Arg594His) NC_000022.11:25772421:G:A Identity +NM_001199777.2:c.427T>C NP_001186706.1:p.Ser143Pro NC_000012.12:89472174:A:G p.(Ser143Pro) NC_000012.12:89472174:A:G p.(Ser143Pro) NC_000012.12:89472174:A:G Identity +NM_052945.4:c.331G>T NP_443177.1:p.Ala111Ser NC_000022.11:41926136:C:A p.(Ala111Ser) NC_000022.11:41926136:C:A p.(Ala111Ser) NC_000022.11:41926136:C:A Identity +NM_005257.6:c.803G>C NP_005248.2:p.Ser268Thr NC_000018.10:22171946:G:C p.(Ser268Thr) NC_000018.10:22171946:G:C p.(Ser268Thr) NC_000018.10:22171946:G:C Identity +NM_001271999.2:c.2600C>T NP_001258928.1:p.Pro867Leu NC_000001.11:62552897:G:A p.(Pro867Leu) NC_000001.11:62552897:G:A p.(Pro867Leu) NC_000001.11:62552897:G:A Identity +NM_001006600.3:c.725T>C NP_001006600.1:p.Ile242Thr NC_000005.10:66024357:T:C p.(Ile242Thr) NC_000005.10:66024357:T:C p.(Ile242Thr) NC_000005.10:66024357:T:C Identity +NM_001163435.3:c.827del NP_001156907.2:p.Val276fs NC_000004.12:106247242:A: p.(Val276AspfsTer19) NC_000004.12:106247242:A: p.(Val276AspfsTer19) NC_000004.12:106247242:A: Analogous +NM_000273.3:c.191C>T NP_000264.2:p.Pro64Leu NC_000023.11:9765626:G:A p.(Pro64Leu) NC_000023.11:9765626:G:A p.(Pro64Leu) NC_000023.11:9765626:G:A Identity +NM_005477.3:c.1948A>C NP_005468.1:p.Thr650Pro NC_000015.10:73324984:T:G p.(Thr650Pro) NC_000015.10:73324984:T:G p.(Thr650Pro) NC_000015.10:73324984:T:G Identity +NM_000335.5:c.3781G>T NP_000326.2:p.Gly1261Cys NC_000003.12:38566464:C:A p.(Gly1261Cys) NC_000003.12:38566464:C:A p.(Gly1261Cys) NC_000003.12:38566464:C:A Identity +NM_001363734.1:c.3140T>G NP_001350663.1:p.Val1047Gly NC_000020.11:32436034:T:G p.(Val1047Gly) NC_000020.11:32436034:T:G p.(Val1047Gly) NC_000020.11:32436034:T:G Identity +NM_001174116.3:c.399G>T NP_001167587.1:p.Gln133His NC_000015.10:51564225:C:A p.(Gln133His) NC_000015.10:51564225:C:A p.(Gln133His) NC_000015.10:51564225:C:A Identity +NM_001267722.2:c.1277T>C NP_001254651.1:p.Leu426Pro NC_000004.12:56490602:T:C p.(Leu426Pro) NC_000004.12:56490602:T:C p.(Leu426Pro) NC_000004.12:56490602:T:C Identity +NM_005630.3:c.402C>A NP_005621.2:p.Asn134Lys NC_000003.12:133955188:G:T p.(Asn134Lys) NC_000003.12:133955188:G:T p.(Asn134Lys) NC_000003.12:133955188:G:T Identity +NM_001079668.3:c.313del NP_001073136.1:p.Val105fs NC_000014.9:36519134:CCCCC:CCCC p.(Val105CysfsTer20) NC_000014.9:36519134:CCCCC:CCCC p.(Val105CysfsTer20) NC_000014.9:36519134:C: Analogous +NM_004531.5:c.59C>T NP_004522.1:p.Ser20Phe NC_000005.10:53107115:G:A p.(Ser20Phe) NC_000005.10:53107115:G:A p.(Ser20Phe) NC_000005.10:53107115:G:A Identity +NM_001362949.2:c.592T>A NP_001349878.1:p.Phe198Ile NC_000022.11:33604457:A:T p.(Phe198Ile) NC_000022.11:33604457:A:T p.(Phe198Ile) NC_000022.11:33604457:A:T Identity +NM_001184720.2:c.487G>A NP_001171649.1:p.Asp163Asn NC_000003.12:149009280:G:A p.(Asp163Asn) NC_000003.12:149009280:G:A p.(Asp163Asn) NC_000003.12:149009280:G:A Identity +NM_001206542.2:c.688G>A NP_001193471.1:p.Ala230Thr NC_000002.12:201208077:G:A p.(Ala230Thr) NC_000002.12:201208077:G:A p.(Ala230Thr) NC_000002.12:201208077:G:A Identity +NM_052854.4:c.277G>A NP_443086.1:p.Asp93Asn NC_000011.10:46300108:G:A p.(Asp93Asn) NC_000011.10:46300108:G:A p.(Asp93Asn) NC_000011.10:46300108:G:A Identity +NM_001195677.2:c.85A>G NP_001182606.1:p.Asn29Asp NC_000020.11:58418236:A:G p.(Asn29Asp) NC_000020.11:58418236:A:G p.(Asn29Asp) NC_000020.11:58418236:A:G Identity +NM_015662.3:c.4417G>A NP_056477.1:p.Ala1473Thr NC_000002.12:27448925:C:T p.(Ala1473Thr) NC_000002.12:27448925:C:T p.(Ala1473Thr) NC_000002.12:27448925:C:T Identity +NM_025114.4:c.6460G>A NP_079390.3:p.Ala2154Thr NC_000012.12:88060891:C:T p.(Ala2154Thr) NC_000012.12:88060891:C:T p.(Ala2154Thr) NC_000012.12:88060891:C:T Identity +NM_000135.4:c.901G>A NP_000126.2:p.Val301Met NC_000016.10:89796010:C:T p.(Val301Met) NC_000016.10:89796010:C:T p.(Val301Met) NC_000016.10:89796010:C:T Identity +NM_001160227.2:c.6830dup NP_001153699.1:p.Thr2278fs NC_000015.10:44563283:GG:GGG p.(Thr2278TyrfsTer2) NC_000015.10:44563283:GG:GGG p.(Thr2278TyrfsTer2) ERR:SPDI Analogous +NM_032790.4:c.498G>T NP_116179.2:p.Glu166Asp NC_000012.12:121641234:G:T p.(Glu166Asp) NW_018654719.1:47005:G:T p.(Glu166Asp) NC_000012.12:47005:A:T Identity +NM_001289067.2:c.1919T>G NP_001275996.1:p.Leu640Trp NC_000010.11:94592241:T:G p.(Leu640Trp) NC_000010.11:94592241:T:G p.(Leu640Trp) NC_000010.11:94592241:T:G Identity +NM_001330092.2:c.1181G>A NP_001317021.1:p.Ser394Asn NC_000002.12:49922181:C:T p.(Ser394Asn) NC_000002.12:49922181:C:T p.(Ser394Asn) NC_000002.12:49922181:C:T Identity +NM_025014.2:c.521G>C NP_079290.1:p.Gly174Ala NC_000017.11:8312559:G:C p.(Gly174Ala) NC_000017.11:8312559:G:C p.(Gly174Ala) NC_000017.11:8312559:G:C Identity +NM_001353765.2:c.1072G>T NP_001340694.1:p.Val358Phe NC_000002.12:29193810:C:A p.(Val358Phe) NC_000002.12:29193810:C:A p.(Val358Phe) NC_000002.12:29193810:C:A Identity +NM_014639.4:c.3715A>G NP_055454.1:p.Asn1239Asp NC_000005.10:95494768:T:C p.(Asn1239Asp) NC_000005.10:95494768:T:C p.(Asn1239Asp) NC_000005.10:95494768:T:C Identity +NM_001077494.3:c.1601C>T NP_001070962.1:p.Ala534Val NC_000010.11:102400293:C:T p.(Ala534Val) NC_000010.11:102400293:C:T p.(Ala534Val) NC_000010.11:102400293:C:T Identity +NM_001379500.1:c.16C>T NP_001366429.1:p.Pro6Ser NC_000021.9:45405382:C:T p.(Pro6Ser) NC_000021.9:45405382:C:T p.(Pro6Ser) NC_000021.9:45405382:C:T Identity +NM_000147.5:c.1190C>T NP_000138.2:p.Ala397Val NC_000001.11:23846143:G:A p.(Ala397Val) NC_000001.11:23846143:G:A p.(Ala397Val) NC_000001.11:23846143:G:A Identity +NM_000587.4:c.2073A>T NP_000578.2:p.Lys691Asn NC_000005.10:40972592:A:T p.(Lys691Asn) NC_000005.10:40972592:A:T p.(Lys691Asn) NC_000005.10:40972592:A:T Identity +NM_000059.4:c.9670A>C NP_000050.3:p.Ile3224Leu NC_000013.11:32398182:A:C p.(Ile3224Leu) NC_000013.11:32398182:A:C p.(Ile3224Leu) NC_000013.11:32398182:A:C Identity +NM_001042681.2:c.140C>T NP_001036146.1:p.Ala47Val NC_000001.11:8656157:G:A p.(Ala47Val) NC_000001.11:8656157:G:A p.(Ala47Val) NC_000001.11:8656157:G:A Identity +NM_001289395.2:c.748C>T NP_001276324.1:p.Arg250Cys NC_000006.12:35506094:G:A p.(Arg250Cys) NC_000006.12:35506094:G:A p.(Arg250Cys) NC_000006.12:35506094:G:A Identity +NM_001135999.2:c.3802G>A NP_001129471.2:p.Ala1268Thr NC_000009.12:35560441:G:A p.(Ala1268Thr) NC_000009.12:35560441:G:A p.(Ala1268Thr) NC_000009.12:35560441:G:A Identity +NM_001136540.2:c.967G>C NP_001130012.1:p.Glu323Gln NC_000022.11:36265802:G:C p.(Glu323Gln) NC_000022.11:36265802:G:C p.(Glu323Gln) NC_000022.11:36265802:G:C Identity +NM_001166292.2:c.3083T>C NP_001159764.1:p.Ile1028Thr NC_000001.11:44826280:A:G p.(Ile1028Thr) NC_000001.11:44826280:A:G p.(Ile1028Thr) NC_000001.11:44826280:A:G Identity +NM_014974.3:c.638A>G NP_055789.1:p.Tyr213Cys NC_000010.11:419165:T:C p.(Tyr213Cys) NC_000010.11:419165:T:C p.(Tyr213Cys) NC_000010.11:419165:T:C Identity +NM_000264.5:c.3871G>A NP_000255.2:p.Gly1291Arg NC_000009.12:95447384:C:T p.(Gly1291Arg) NC_000009.12:95447384:C:T p.(Gly1291Arg) NC_000009.12:95447384:C:T Identity +NM_001039476.3:c.661C>A NP_001034565.1:p.Arg221Ser NC_000016.10:89865:G:T p.(Arg221Ser) NC_000016.10:89865:G:T p.(Arg221Ser) NC_000016.10:89865:G:T Identity +NM_000316.3:c.1694A>G NP_000307.1:p.Asn565Ser NC_000003.12:46903567:A:G p.(Asn565Ser) NC_000003.12:46903567:A:G p.(Asn565Ser) NC_000003.12:46903567:A:G Identity +NM_000902.5:c.779A>C NP_000893.2:p.Glu260Ala NC_000003.12:155138159:A:C p.(Glu260Ala) NC_000003.12:155138159:A:C p.(Glu260Ala) NC_000003.12:155138159:A:C Identity +NM_000109.4:c.10450G>T NP_000100.3:p.Ala3484Ser NC_000023.11:31169521:C:A p.(Ala3484Ser) NC_000023.11:31169521:C:A p.(Ala3484Ser) NC_000023.11:31169521:C:A Identity +NM_001350234.2:c.1868A>C NP_001337163.1:p.Tyr623Ser NC_000001.11:9721502:A:C p.(Tyr623Ser) NC_000001.11:9721502:A:C p.(Tyr623Ser) NC_000001.11:9721502:A:C Identity +NM_001029896.2:c.937G>A NP_001025067.1:p.Gly313Ser NC_000023.11:49075171:C:T p.(Gly313Ser) NC_000023.11:49075171:C:T p.(Gly313Ser) NC_000023.11:49075171:C:T Identity +NM_001145293.2:c.371C>T NP_001138765.1:p.Ser124Leu NC_000003.12:25764186:G:A p.(Ser124Leu) NC_000003.12:25764186:G:A p.(Ser124Leu) NC_000003.12:25764186:G:A Identity +NM_006903.4:c.760T>C NP_008834.3:p.Cys254Arg NC_000004.12:105396270:A:G p.(Cys254Arg) NC_000004.12:105396270:A:G p.(Cys254Arg) NC_000004.12:105396270:A:G Identity +NM_015909.4:c.6124A>G NP_056993.2:p.Met2042Val NC_000002.12:15234566:T:C p.(Met2042Val) NC_000002.12:15234566:T:C p.(Met2042Val) NC_000002.12:15234566:T:C Identity +NM_000234.3:c.230C>A NP_000225.1:p.Pro77His NC_000019.10:48161384:G:T p.(Pro77His) NC_000019.10:48161384:G:T p.(Pro77His) NC_000019.10:48161384:G:T Identity +NM_022047.4:c.1139A>T NP_071330.3:p.Glu380Val NC_000006.12:35318394:A:T p.(Glu380Val) NC_000006.12:35318394:A:T p.(Glu380Val) NC_000006.12:35318394:A:T Identity +NM_001256267.2:c.56G>A NP_001243196.1:p.Ser19Asn NC_000010.11:68121493:G:A p.(Ser19Asn) NC_000010.11:68121493:G:A p.(Ser19Asn) NC_000010.11:68121493:G:A Identity +NM_003373.4:c.473T>A NP_003364.1:p.Val158Asp NC_000010.11:74071056:T:A p.(Val158Asp) NC_000010.11:74071056:T:A p.(Val158Asp) NC_000010.11:74071056:T:A Identity +NM_001371986.1:c.2470C>T NP_001358915.1:p.Arg824Ter NC_000002.12:209826044:C:T p.(Arg824Ter) NC_000002.12:209826044:C:T p.(Arg824Ter) NC_000002.12:209826044:C:T Identity +NM_014141.6:c.778_780del NP_054860.1:p.Tyr260del NC_000007.14:147121001:TAT: p.(Tyr260del) NC_000007.14:147121001:TAT: p.(Tyr260del) NC_000007.14:147121001:TAT: Identity +NM_002180.3:c.1117G>T NP_002171.2:p.Val373Phe NC_000011.10:68929238:G:T p.(Val373Phe) NC_000011.10:68929238:G:T p.(Val373Phe) NC_000011.10:68929238:G:T Identity +NM_001127671.2:c.1471del NP_001121143.1:p.Ser491fs NC_000005.10:38502765:TT:T p.(Ser491ValfsTer9) NC_000005.10:38502765:TT:T p.(Ser491ValfsTer9) NC_000005.10:38502765:T: Analogous +NM_000138.5:c.6728_6737del NP_000129.3:p.Arg2243fs NC_000015.10:48432867:TTGCACATCCT:T p.(Arg2243LysfsTer45) NC_000015.10:48432867:TTGCACATCCT:T p.(Arg2243LysfsTer45) NC_000015.10:48432867:TTGCACATCC: Analogous +NM_001203263.2:c.1562C>T NP_001190192.2:p.Ala521Val NC_000003.12:9933030:C:T p.(Ala521Val) NC_000003.12:9933030:C:T p.(Ala521Val) NC_000003.12:9933030:C:T Identity +NM_001256267.2:c.946C>A NP_001243196.1:p.His316Asn NC_000010.11:68142982:C:A p.(His316Asn) NC_000010.11:68142982:C:A p.(His316Asn) NC_000010.11:68142982:C:A Identity +NM_001040113.2:c.496C>T NP_001035202.1:p.Leu166Phe NC_000016.10:15823260:G:A p.(Leu166Phe) NC_000016.10:15823260:G:A p.(Leu166Phe) NC_000016.10:15823260:G:A Identity +NM_001330609.2:c.2062A>G NP_001317538.1:p.Met688Val NC_000008.11:125044696:T:C p.(Met688Val) NC_000008.11:125044696:T:C p.(Met688Val) NC_000008.11:125044696:T:C Identity +NM_133459.4:c.811G>A NP_597716.1:p.Gly271Ser NC_000018.10:59439780:C:T p.(Gly271Ser) NC_000018.10:59439780:C:T p.(Gly271Ser) NC_000018.10:59439780:C:T Identity +NM_001075098.4:c.455G>T NP_001068566.1:p.Gly152Val NC_000006.12:39916195:C:A p.(Gly152Val) NC_000006.12:39916195:C:A p.(Gly152Val) NC_000006.12:39916195:C:A Identity +NM_006059.4:c.3593G>A NP_006050.3:p.Arg1198Lys NC_000009.12:131075928:G:A p.(Arg1198Lys) NC_000009.12:131075928:G:A p.(Arg1198Lys) NC_000009.12:131075928:G:A Identity +NM_032043.3:c.2674C>G NP_114432.2:p.Leu892Val NC_000017.11:61686066:G:C p.(Leu892Val) NC_000017.11:61686066:G:C p.(Leu892Val) NC_000017.11:61686066:G:C Identity +NM_001365951.3:c.4457A>G NP_001352880.1:p.Asp1486Gly NC_000001.11:10365189:A:G p.(Asp1486Gly) NC_000001.11:10365189:A:G p.(Asp1486Gly) NC_000001.11:10365189:A:G Identity +NM_001348250.2:c.199G>A NP_001335179.1:p.Val67Ile NC_000003.12:11017409:G:A p.(Val67Ile) NC_000003.12:11017409:G:A p.(Val67Ile) NC_000003.12:11017409:G:A Identity +NM_001079812.3:c.967G>A NP_001073280.1:p.Val323Ile NC_000005.10:141578564:C:T p.(Val323Ile) NC_000005.10:141578564:C:T p.(Val323Ile) NC_000005.10:141578564:C:T Identity +NM_001844.5:c.3063del NP_001835.3:p.Val1022fs NC_000012.12:47978057:GGGG:GGG p.(Val1022TrpfsTer6) NC_000012.12:47978057:GGGG:GGG p.(Val1022TrpfsTer6) NC_000012.12:47978057:G: Analogous +NM_015693.4:c.2267T>C NP_056508.2:p.Leu756Pro NC_000004.12:127706964:T:C p.(Leu756Pro) NC_000004.12:127706964:T:C p.(Leu756Pro) NC_000004.12:127706964:T:C Identity +NM_001407741.1:c.646A>G NP_001394670.1:p.Ser216Gly NC_000017.11:43094740:T:C p.(Ser216Gly) NC_000017.11:43094740:T:C p.(Ser216Gly) NC_000017.11:43094740:T:C Identity +NM_198578.4:c.3091T>C NP_940980.4:p.Cys1031Arg NC_000012.12:40295638:T:C p.(Cys1031Arg) NC_000012.12:40295638:T:C p.(Cys1031Arg) NC_000012.12:40295638:T:C Identity +NM_001136536.5:c.755C>T NP_001130008.2:p.Thr252Ile NC_000004.12:36295020:C:T p.(Thr252Ile) NC_000004.12:36295020:C:T p.(Thr252Ile) NC_000004.12:36295020:C:T Identity +NM_001003841.3:c.292C>T NP_001003841.1:p.Arg98Trp NC_000005.10:1208834:C:T p.(Arg98Trp) NC_000005.10:1208834:C:T p.(Arg98Trp) NC_000005.10:1208834:C:T Identity +NM_001363520.3:c.106T>C NP_001350449.1:p.Trp36Arg NC_000004.12:127957548:A:G p.(Trp36Arg) NC_000004.12:127957548:A:G p.(Trp36Arg) NC_000004.12:127957548:A:G Identity +NM_001350888.2:c.1928A>G NP_001337817.1:p.Lys643Arg NC_000014.9:96486919:A:G p.(Lys643Arg) NC_000014.9:96486919:A:G p.(Lys643Arg) NC_000014.9:96486919:A:G Identity +NM_001286414.3:c.257T>G NP_001273343.1:p.Leu86Arg NC_000015.10:43376551:T:G p.(Leu86Arg) NC_000015.10:43376551:T:G p.(Leu86Arg) NC_000015.10:43376551:T:G Identity +NM_001281302.2:c.664C>T NP_001268231.1:p.Arg222Ter NC_000005.10:74747731:G:A p.(Arg222Ter) NC_000005.10:74747731:G:A p.(Arg222Ter) NC_000005.10:74747731:G:A Identity +NM_001303249.3:c.9GCG[1] NP_001290178.1:p.Arg5del NC_000005.10:110739127:GCGGCG:GCG p.(Arg5del) NC_000005.10:110739127:G:GCG ERR:Parse ERR:Parse Identity +NM_001352253.3:c.655G>C NP_001339182.1:p.Ala219Pro NC_000013.11:110683050:C:G p.(Ala219Pro) NC_000013.11:110683050:C:G p.(Ala219Pro) NC_000013.11:110683050:C:G Identity +NM_004501.3:c.2110G>A NP_004492.2:p.Ala704Thr NC_000001.11:244855903:C:T p.(Ala704Thr) NC_000001.11:244855903:C:T p.(Ala704Thr) NC_000001.11:244855903:C:T Identity +NM_003184.4:c.1835T>A NP_003175.2:p.Val612Asp NC_000008.11:119785224:A:T p.(Val612Asp) NC_000008.11:119785224:A:T p.(Val612Asp) NC_000008.11:119785224:A:T Identity +NM_000553.6:c.3487G>A NP_000544.2:p.Ala1163Thr NC_000008.11:31147390:G:A p.(Ala1163Thr) NC_000008.11:31147390:G:A p.(Ala1163Thr) NC_000008.11:31147390:G:A Identity +NM_001282237.2:c.1694G>C NP_001269166.1:p.Arg565Pro NC_000014.9:99175138:C:G p.(Arg565Pro) NC_000014.9:99175138:C:G p.(Arg565Pro) NC_000014.9:99175138:C:G Identity +NM_001308122.2:c.296C>T NP_001295051.1:p.Pro99Leu NC_000005.10:132370267:C:T p.(Pro99Leu) NC_000005.10:132370267:C:T p.(Pro99Leu) NC_000005.10:132370267:C:T Identity +NM_001034194.2:c.263C>T NP_001029366.1:p.Pro88Leu NC_000004.12:121802774:C:T p.(Pro88Leu) NC_000004.12:121802774:C:T p.(Pro88Leu) NC_000004.12:121802774:C:T Identity +NM_058216.3:c.866A>G NP_478123.1:p.Lys289Arg NC_000017.11:58720773:A:G p.(Lys289Arg) NC_000017.11:58720773:A:G p.(Lys289Arg) NC_000017.11:58720773:A:G Identity +NM_001369906.1:c.26dup NP_001356835.1:p.Leu10fs NC_000022.11:23580164:CCCCCC:CCCCCCC p.(Leu10ProfsTer2) NC_000022.11:23580164:CCCCCC:CCCCCCC p.(Leu10ProfsTer2) ERR:SPDI Analogous +NM_001130455.2:c.458C>T NP_001123927.1:p.Ala153Val NC_000002.12:71511918:C:T p.(Ala153Val) NC_000002.12:71511918:C:T p.(Ala153Val) NC_000002.12:71511918:C:T Identity +NM_001005407.2:c.1763G>C NP_001005407.1:p.Arg588Thr NC_000016.10:1202212:G:C p.(Arg588Thr) NC_000016.10:1202212:G:C p.(Arg588Thr) NC_000016.10:1202212:G:C Identity +NM_001190274.2:c.290G>T NP_001177203.1:p.Ser97Ile NC_000002.12:47839711:C:A p.(Ser97Ile) NC_000002.12:47839711:C:A p.(Ser97Ile) NC_000002.12:47839711:C:A Identity +NM_000258.3:c.193C>G NP_000249.1:p.Pro65Ala NC_000003.12:46860789:G:C p.(Pro65Ala) NC_000003.12:46860789:G:C p.(Pro65Ala) NC_000003.12:46860789:G:C Identity +NM_001293306.2:c.733A>G NP_001280235.2:p.Lys245Glu NC_000003.12:38761341:T:C p.(Lys245Glu) NC_000003.12:38761341:T:C p.(Lys245Glu) NC_000003.12:38761341:T:C Identity +NM_001283009.2:c.1736C>T NP_001269938.1:p.Ala579Val NC_000020.11:63688540:C:T p.(Ala579Val) NC_000020.11:63688540:C:T p.(Ala579Val) NC_000020.11:63688540:C:T Identity +NM_018706.7:c.890C>T NP_061176.4:p.Ala297Val NC_000010.11:12089157:C:T p.(Ala297Val) NC_000010.11:12089157:C:T p.(Ala297Val) NC_000010.11:12089157:C:T Identity +NM_001378454.1:c.171C>G NP_001365383.1:p.Asp57Glu NC_000002.12:73386038:C:G p.(Asp57Glu) NC_000002.12:73386038:C:G p.(Asp57Glu) NC_000002.12:73386038:C:G Identity +NM_001351273.1:c.1379C>T NP_001338202.1:p.Ala460Val NC_000019.10:1460258:C:T p.(Ala460Val) NC_000019.10:1460258:C:T p.(Ala460Val) NC_000019.10:1460258:C:T Identity +NM_000028.3:c.4412C>T NP_000019.2:p.Pro1471Leu NC_000001.11:99916661:C:T p.(Pro1471Leu) NC_000001.11:99916661:C:T p.(Pro1471Leu) NC_000001.11:99916661:C:T Identity +NM_000122.2:c.877G>A NP_000113.1:p.Ala293Thr NC_000002.12:127288809:C:T p.(Ala293Thr) NC_000002.12:127288809:C:T p.(Ala293Thr) NC_000002.12:127288809:C:T Identity +NM_000337.6:c.31C>T NP_000328.2:p.Arg11Trp NC_000005.10:156344515:C:T p.(Arg11Trp) NC_000005.10:156344515:C:T p.(Arg11Trp) NC_000005.10:156344515:C:T Identity +NM_001257374.3:c.1457C>T NP_001244303.1:p.Ala486Val NC_000001.11:156138581:C:T p.(Ala486Val) NC_000001.11:156138581:C:T p.(Ala486Val) NC_000001.11:156138581:C:T Identity +NM_001276289.2:c.116G>T NP_001263218.1:p.Cys39Phe NC_000017.11:68515514:G:T p.(Cys39Phe) NC_000017.11:68515514:G:T p.(Cys39Phe) NC_000017.11:68515514:G:T Identity +NM_001297571.2:c.2T>C NP_001284500.1:p.Met1Thr NC_000012.12:6841288:T:C p.(Met1Thr) NC_000012.12:6841288:T:C p.Met1? NC_000012.12:6841288:T:C Identity +NM_000052.7:c.3028A>T NP_000043.4:p.Thr1010Ser NC_000023.11:78029360:A:T p.(Thr1010Ser) NC_000023.11:78029360:A:T p.(Thr1010Ser) NC_000023.11:78029360:A:T Identity +NM_001242385.2:c.1646C>T NP_001229314.1:p.Thr549Ile NC_000006.12:10764557:G:A p.(Thr549Ile) NC_000006.12:10764557:G:A p.(Thr549Ile) NC_000006.12:10764557:G:A Identity +NM_001371986.1:c.1571G>C NP_001358915.1:p.Gly524Ala NC_000002.12:209817829:G:C p.(Gly524Ala) NC_000002.12:209817829:G:C p.(Gly524Ala) NC_000002.12:209817829:G:C Identity +NM_001375291.1:c.3269C>T NP_001362220.1:p.Pro1090Leu NC_000009.12:95973019:C:T p.(Pro1090Leu) NC_000009.12:95973019:C:T p.(Pro1090Leu) NC_000009.12:95973019:C:T Identity +NM_000557.5:c.425G>A NP_000548.2:p.Ser142Asn NC_000020.11:35437503:C:T p.(Ser142Asn) NC_000020.11:35437503:C:T p.(Ser142Asn) NC_000020.11:35437503:C:T Identity +NM_001193307.2:c.739A>G NP_001180236.1:p.Ile247Val NC_000007.14:93105358:T:C p.(Ile247Val) NC_000007.14:93105358:T:C p.(Ile247Val) NC_000007.14:93105358:T:C Identity +NM_001164098.2:c.3518C>T NP_001157570.1:p.Thr1173Ile NC_000005.10:83521823:C:T p.(Thr1173Ile) NC_000005.10:83521823:C:T p.(Thr1173Ile) NC_000005.10:83521823:C:T Identity +NM_001007188.4:c.692T>C NP_001007189.1:p.Val231Ala NC_000022.11:31792099:T:C p.(Val231Ala) NC_000022.11:31792099:T:C p.(Val231Ala) NC_000022.11:31792099:T:C Identity +NM_001128844.3:c.2310C>A NP_001122316.1:p.Asn770Lys NC_000019.10:11012983:C:A p.(Asn770Lys) NC_000019.10:11012983:C:A p.(Asn770Lys) NC_000019.10:11012983:C:A Identity +NM_001345867.2:c.275G>A NP_001332796.1:p.Arg92Gln NC_000004.12:44689886:G:A p.(Arg92Gln) NC_000004.12:44689886:G:A p.(Arg92Gln) NC_000004.12:44689886:G:A Identity +NM_001171.6:c.1885A>G NP_001162.5:p.Ile629Val NC_000016.10:16185016:T:C p.(Ile629Val) NC_000016.10:16185016:T:C p.(Ile629Val) NC_000016.10:16185016:T:C Identity +NM_001033053.3:c.3308G>A NP_001028225.1:p.Arg1103Gln NC_000017.11:5532821:C:T p.(Arg1103Gln) NC_000017.11:5532821:C:T p.(Arg1103Gln) NC_000017.11:5532821:C:T Identity +NM_000629.3:c.190G>T NP_000620.2:p.Asp64Tyr NC_000021.9:33335636:G:T p.(Asp64Tyr) NC_000021.9:33335636:G:T p.(Asp64Tyr) NC_000021.9:33335636:G:T Identity +NM_001318219.1:c.4496C>T NP_001305148.1:p.Thr1499Ile NC_000020.11:35504760:C:T p.(Thr1499Ile) NC_000020.11:35504760:C:T p.(Thr1499Ile) NC_000020.11:35504760:C:T Identity +NM_000821.7:c.1306C>T NP_000812.2:p.Arg436Ter NC_000002.12:85552548:G:A p.(Arg436Ter) NC_000002.12:85552548:G:A p.(Arg436Ter) NC_000002.12:85552548:G:A Identity +NM_001018113.3:c.2329A>G NP_001018123.1:p.Ile777Val NC_000023.11:14843817:T:C p.(Ile777Val) NC_000023.11:14843817:T:C p.(Ile777Val) NC_000023.11:14843817:T:C Identity +NM_004218.4:c.328C>T NP_004209.2:p.Arg110Trp NC_000019.10:8402176:C:T p.(Arg110Trp) NC_000019.10:8402176:C:T p.(Arg110Trp) NC_000019.10:8402176:C:T Identity +NM_001256789.3:c.3581T>C NP_001243718.1:p.Val1194Ala NC_000023.11:49215101:A:G p.(Val1194Ala) NC_000023.11:49215101:A:G p.(Val1194Ala) NC_000023.11:49215101:A:G Identity +NM_001318369.2:c.835A>T NP_001305298.1:p.Ser279Cys NC_000011.10:20630727:A:T p.(Ser279Cys) NC_000011.10:20630727:A:T p.(Ser279Cys) NC_000011.10:20630727:A:T Identity +NM_001379500.1:c.79G>C NP_001366429.1:p.Gly27Arg NC_000021.9:45405445:G:C p.(Gly27Arg) NC_000021.9:45405445:G:C p.(Gly27Arg) NC_000021.9:45405445:G:C Identity +NM_002977.4:c.4552A>G NP_002968.2:p.Met1518Val NC_000002.12:166204143:T:C p.(Met1518Val) NC_000002.12:166204143:T:C p.(Met1518Val) NC_000002.12:166204143:T:C Identity +NM_018136.5:c.8345C>G NP_060606.3:p.Thr2782Ser NC_000001.11:197100905:G:C p.(Thr2782Ser) NC_000001.11:197100905:G:C p.(Thr2782Ser) NC_000001.11:197100905:G:C Identity +NM_001201543.2:c.447T>A NP_001188472.1:p.Tyr149Ter NC_000002.12:61840556:A:T p.(Tyr149Ter) NC_000002.12:61840556:A:T p.(Tyr149Ter) NC_000002.12:61840556:A:T Identity +NM_001009994.3:c.40G>T NP_001009994.1:p.Ala14Ser NC_000006.12:83853455:G:T p.(Ala14Ser) NC_000006.12:83853455:G:T p.(Ala14Ser) NC_000006.12:83853455:G:T Identity +NM_032444.4:c.5185G>C NP_115820.2:p.Glu1729Gln NC_000016.10:3582661:C:G p.(Glu1729Gln) NC_000016.10:3582661:C:G p.(Glu1729Gln) NC_000016.10:3582661:C:G Identity +NM_001407881.1:c.1554C>A NP_001394810.1:p.Ser518Arg NC_000017.11:43093766:G:T p.(Ser518Arg) NC_000017.11:43093766:G:T p.(Ser518Arg) NC_000017.11:43093766:G:T Identity +NM_001130455.2:c.2167C>G NP_001123927.1:p.Gln723Glu NC_000002.12:71561752:C:G p.(Gln723Glu) NC_000002.12:71561752:C:G p.(Gln723Glu) NC_000002.12:71561752:C:G Identity +NM_001563.4:c.85T>C NP_001554.2:p.Tyr29His NC_000006.12:76042108:A:G p.(Tyr29His) NC_000006.12:76042108:A:G p.(Tyr29His) NC_000006.12:76042108:A:G Identity +NM_014231.5:c.341T>C NP_055046.1:p.Ile114Thr NC_000012.12:6464485:A:G p.(Ile114Thr) NC_000012.12:6464485:A:G p.(Ile114Thr) NC_000012.12:6464485:A:G Identity +NM_001353229.2:c.530_533dup NP_001340158.1:p.Asp178fs NC_000017.11:17224060:TCCTT:TCCTTCCTT p.(Asp178GlufsTer41) NC_000017.11:17224060:TCCTT:TCCTTCCTT p.(Asp178GlufsTer41) ERR:SPDI Analogous +NM_007255.3:c.337C>T NP_009186.1:p.Pro113Ser NC_000005.10:177604464:C:T p.(Pro113Ser) NC_000005.10:177604464:C:T p.(Pro113Ser) NC_000005.10:177604464:C:T Identity +NM_001330758.2:c.386G>A NP_001317687.1:p.Gly129Asp NC_000005.10:225491:G:A p.(Gly129Asp) NC_000005.10:225491:G:A p.(Gly129Asp) NC_000005.10:225491:G:A Identity +NM_001621.5:c.1470G>C NP_001612.1:p.Met490Ile NC_000007.14:17339294:G:C p.(Met490Ile) NC_000007.14:17339294:G:C p.(Met490Ile) NC_000007.14:17339294:G:C Identity +NM_001130823.3:c.876A>C NP_001124295.1:p.Glu292Asp NC_000019.10:10166612:T:G p.(Glu292Asp) NC_000019.10:10166612:T:G p.(Glu292Asp) NC_000019.10:10166612:T:G Identity +NM_001146158.2:c.2057T>C NP_001139630.1:p.Val686Ala NC_000002.12:74461413:A:G p.(Val686Ala) NC_000002.12:74461413:A:G p.(Val686Ala) NC_000002.12:74461413:A:G Identity +NM_001291860.2:c.12184G>A NP_001278789.1:p.Val4062Met NC_000001.11:21828890:C:T p.(Val4062Met) NC_000001.11:21828890:C:T p.(Val4062Met) NC_000001.11:21828890:C:T Identity +NM_000257.4:c.3190G>A NP_000248.2:p.Glu1064Lys NC_000014.9:23422234:C:T p.(Glu1064Lys) NC_000014.9:23422234:C:T p.(Glu1064Lys) NC_000014.9:23422234:C:T Identity +NM_000170.3:c.3050G>A NP_000161.2:p.Arg1017Lys NC_000009.12:6533029:C:T p.(Arg1017Lys) NC_000009.12:6533029:C:T p.(Arg1017Lys) NC_000009.12:6533029:C:T Identity +NM_001353210.3:c.500T>C NP_001340139.1:p.Ile167Thr NC_000018.10:49333847:A:G p.(Ile167Thr) NC_000018.10:49333847:A:G p.(Ile167Thr) NC_000018.10:49333847:A:G Identity +NM_000214.3:c.297_298delinsCT NP_000205.1:p.Pro100Ser NC_000020.11:10672789:GC:AG p.(Pro100Ser) NC_000020.11:10672789:GC:AG p.(Pro100Ser) NC_000020.11:10672789:GC:AG Identity +NM_000319.5:c.1222G>A NP_000310.2:p.Glu408Lys NC_000012.12:7208520:G:A p.(Glu408Lys) NC_000012.12:7208520:G:A p.(Glu408Lys) NC_000012.12:7208520:G:A Identity +NM_001244008.2:c.3778G>A NP_001230937.1:p.Gly1260Arg NC_000002.12:240740335:C:T p.(Gly1260Arg) NC_000002.12:240740335:C:T p.(Gly1260Arg) NC_000002.12:240740335:C:T Identity +NM_001319034.2:c.4013C>A NP_001305963.1:p.Ala1338Asp NC_000006.12:7580202:C:A p.(Ala1338Asp) NC_000006.12:7580202:C:A p.(Ala1338Asp) NC_000006.12:7580202:C:A Identity +NM_001385198.1:c.3199G>T NP_001372127.1:p.Gly1067Cys NC_000019.10:10351131:C:A p.(Gly1067Cys) NC_000019.10:10351131:C:A p.(Gly1067Cys) NC_000019.10:10351131:C:A Identity +NM_000368.5:c.2915A>G NP_000359.1:p.Asp972Gly NC_000009.12:132897243:T:C p.(Asp972Gly) NC_000009.12:132897243:T:C p.(Asp972Gly) NC_000009.12:132897243:T:C Identity +NM_001018088.3:c.238G>T NP_001018098.1:p.Val80Phe NC_000015.10:62035001:C:A p.(Val80Phe) NC_000015.10:62035001:C:A p.(Val80Phe) NC_000015.10:62035001:C:A Identity +NM_020461.4:c.305G>A NP_065194.3:p.Cys102Tyr NC_000022.11:50244154:C:T p.(Cys102Tyr) NC_000022.11:50244154:C:T p.(Cys102Tyr) NC_000022.11:50244154:C:T Identity +NM_002439.5:c.311T>C NP_002430.3:p.Val104Ala NC_000005.10:80656483:T:C p.(Val104Ala) NC_000005.10:80656483:T:C p.(Val104Ala) NC_000005.10:80656483:T:C Identity +NM_001367624.2:c.2471C>T NP_001354553.1:p.Pro824Leu NC_000016.10:88429940:C:T p.(Pro824Leu) NC_000016.10:88429940:C:T p.(Pro824Leu) NC_000016.10:88429940:C:T Identity +NM_032119.4:c.9604A>G NP_115495.3:p.Ile3202Val NC_000005.10:90720203:A:G p.(Ile3202Val) NC_000005.10:90720203:A:G p.(Ile3202Val) NC_000005.10:90720203:A:G Identity +NM_000843.4:c.1295C>A NP_000834.2:p.Ala432Glu NC_000005.10:178988993:G:T p.(Ala432Glu) NC_000005.10:178988993:G:T p.(Ala432Glu) NC_000005.10:178988993:G:T Identity +NM_001190241.2:c.595A>G NP_001177170.1:p.Arg199Gly NC_000003.12:160307732:T:C p.(Arg199Gly) NC_000003.12:160307732:T:C p.(Arg199Gly) NC_000003.12:160307732:T:C Identity +NM_001136540.2:c.1001A>G NP_001130012.1:p.Lys334Arg NC_000022.11:36265836:A:G p.(Lys334Arg) NC_000022.11:36265836:A:G p.(Lys334Arg) NC_000022.11:36265836:A:G Identity +NM_017890.5:c.4690A>G NP_060360.3:p.Met1564Val NC_000008.11:99511493:A:G p.(Met1564Val) NC_000008.11:99511493:A:G p.(Met1564Val) NC_000008.11:99511493:A:G Identity +NM_000203.5:c.612_615del NP_000194.2:p.Cys205fs NC_000004.12:1001697:TGCCTGC:TGC p.(Cys205ArgfsTer28) NC_000004.12:1001697:TGCCTGC:TGC p.(Cys205ArgfsTer28) NC_000004.12:1001700:CTGC: Analogous +NM_000878.5:c.634C>T NP_000869.1:p.Pro212Ser NC_000022.11:37136296:G:A p.(Pro212Ser) NC_000022.11:37136296:G:A p.(Pro212Ser) NC_000022.11:37136296:G:A Identity +NM_001012339.3:c.874G>A NP_001012339.2:p.Glu292Lys NC_000005.10:34938987:G:A p.(Glu292Lys) NC_000005.10:34938987:G:A p.(Glu292Lys) NC_000005.10:34938987:G:A Identity +NM_001160210.2:c.528dup NP_001153682.1:p.Arg177fs NC_000007.14:96193123:CCC:CCCC p.(Arg177GlufsTer40) NC_000007.14:96193123:CCC:CCCC p.(Arg177GlufsTer40) ERR:SPDI Analogous +NM_001197104.2:c.10405C>A NP_001184033.1:p.His3469Asn NC_000011.10:118506296:C:A p.(His3469Asn) NC_000011.10:118506296:C:A p.(His3469Asn) NC_000011.10:118506296:C:A Identity +NM_003659.4:c.1826A>G NP_003650.1:p.Asn609Ser NC_000002.12:177523775:A:G p.(Asn609Ser) NC_000002.12:177523775:A:G p.(Asn609Ser) NC_000002.12:177523775:A:G Identity +NM_001286075.2:c.303_304inv NP_001273004.1:p.Gly102Ser NC_000016.10:28887471:TG:CA p.(Gly102Ser) NC_000016.10:28887471:TG:CA p.(Gly102Ser) ERR:SPDI Identity +NM_006929.5:c.2042T>C NP_008860.4:p.Met681Thr NC_000006.12:31965852:T:C p.(Met681Thr) NC_000006.12:31965852:T:C p.(Met681Thr) NC_000006.12:31965852:T:C Identity +NM_001330360.2:c.2389T>G NP_001317289.1:p.Leu797Val NC_000023.11:24742043:T:G p.(Leu797Val) NC_000023.11:24742043:T:G p.(Leu797Val) NC_000023.11:24742043:T:G Identity +NM_001173408.2:c.935A>C NP_001166879.1:p.Lys312Thr NC_000002.12:219570297:T:G p.(Lys312Thr) NC_000002.12:219570297:T:G p.(Lys312Thr) NC_000002.12:219570297:T:G Identity +NM_000101.4:c.467C>T NP_000092.2:p.Pro156Leu NC_000016.10:88643473:G:A p.(Pro156Leu) NC_000016.10:88643473:G:A p.(Pro156Leu) NC_000016.10:88643473:G:A Identity +NM_006509.4:c.1238G>A NP_006500.2:p.Arg413Gln NC_000019.10:45034273:G:A p.(Arg413Gln) NC_000019.10:45034273:G:A p.(Arg413Gln) NC_000019.10:45034273:G:A Identity +NM_005618.4:c.1018G>A NP_005609.3:p.Gly340Arg NC_000006.12:170285267:C:T p.(Gly340Arg) NC_000006.12:170285267:C:T p.(Gly340Arg) NC_000006.12:170285267:C:T Identity +NM_001033054.3:c.221T>C NP_001028226.1:p.Ile74Thr NC_000017.11:6433973:A:G p.(Ile74Thr) NC_000017.11:6433973:A:G p.(Ile74Thr) NC_000017.11:6433973:A:G Identity +NM_001148.6:c.5095G>A NP_001139.3:p.Gly1699Arg NC_000004.12:113353712:G:A p.(Gly1699Arg) NC_000004.12:113353712:G:A p.(Gly1699Arg) NC_000004.12:113353712:G:A Identity +NM_000401.3:c.2153G>C NP_000392.3:p.Gly718Ala NC_000011.10:44244183:G:C p.(Gly718Ala) NC_000011.10:44244183:G:C p.(Gly718Ala) NC_000011.10:44244183:G:C Identity +NM_001367904.1:c.2628C>G NP_001354833.1:p.Asp876Glu NC_000011.10:117481201:G:C p.(Asp876Glu) NC_000011.10:117481201:G:C p.(Asp876Glu) NC_000011.10:117481201:G:C Identity +NM_001283106.3:c.673G>A NP_001270035.1:p.Ala225Thr NC_000022.11:20063404:G:A p.(Ala225Thr) NC_000022.11:20063404:G:A p.(Ala225Thr) NC_000022.11:20063404:G:A Identity +NM_001178010.2:c.1547G>A NP_001171481.1:p.Arg516Gln NC_000022.11:19516536:G:A p.(Arg516Gln) NC_000022.11:19516536:G:A p.(Arg516Gln) NC_000022.11:19516536:G:A Identity +NM_005559.4:c.4424G>A NP_005550.2:p.Arg1475His NC_000018.10:6999955:C:T p.(Arg1475His) NC_000018.10:6999955:C:T p.(Arg1475His) NC_000018.10:6999955:C:T Identity +NM_001853.4:c.97C>T NP_001844.3:p.Pro33Ser NC_000020.11:62817584:C:T p.(Pro33Ser) NC_000020.11:62817584:C:T p.(Pro33Ser) NC_000020.11:62817584:C:T Identity +NM_001256876.3:c.3371G>A NP_001243805.1:p.Arg1124His NC_000009.12:738321:G:A p.(Arg1124His) NC_000009.12:738321:G:A p.(Arg1124His) NC_000009.12:738321:G:A Identity +NM_152393.4:c.388C>T NP_689606.2:p.Leu130Phe NC_000003.12:42686005:C:T p.(Leu130Phe) NC_000003.12:42686005:C:T p.(Leu130Phe) NC_000003.12:42686005:C:T Identity +NM_004525.3:c.12746T>G NP_004516.2:p.Phe4249Cys NC_000002.12:169146803:A:C p.(Phe4249Cys) NC_000002.12:169146803:A:C p.(Phe4249Cys) NC_000002.12:169146803:A:C Identity +NM_001258392.3:c.266G>A NP_001245321.1:p.Gly89Glu NC_000011.10:72434208:C:T p.(Gly89Glu) NC_000011.10:72434208:C:T p.(Gly89Glu) NC_000011.10:72434208:C:T Identity +NM_001004334.4:c.88C>T NP_001004334.3:p.Arg30Trp NC_000017.11:38343701:G:A p.(Arg30Trp) NC_000017.11:38343701:G:A p.(Arg30Trp) NC_000017.11:38343701:G:A Identity +NM_001303401.2:c.1796G>C NP_001290330.1:p.Ser599Thr NC_000003.12:101764925:G:C p.(Ser599Thr) NC_000003.12:101764925:G:C p.(Ser599Thr) NC_000003.12:101764925:G:C Identity +NM_004415.4:c.4769A>G NP_004406.2:p.Lys1590Arg NC_000006.12:7580958:A:G p.(Lys1590Arg) NC_000006.12:7580958:A:G p.(Lys1590Arg) NC_000006.12:7580958:A:G Identity +NM_001084.5:c.1394A>G NP_001075.1:p.Tyr465Cys NC_000007.14:101210637:T:C p.(Tyr465Cys) NC_000007.14:101210637:T:C p.(Tyr465Cys) NC_000007.14:101210637:T:C Identity +NM_001029882.3:c.3538G>A NP_001025053.1:p.Gly1180Arg NC_000001.11:27548577:C:T p.(Gly1180Arg) NC_000001.11:27548577:C:T p.(Gly1180Arg) NC_000001.11:27548577:C:T Identity +NM_001135999.2:c.1546C>T NP_001129471.2:p.Arg516Cys NC_000009.12:35548066:C:T p.(Arg516Cys) NC_000009.12:35548066:C:T p.(Arg516Cys) NC_000009.12:35548066:C:T Identity +NM_001161357.2:c.619C>T NP_001154829.1:p.His207Tyr NC_000019.10:17772480:C:T p.(His207Tyr) NC_000019.10:17772480:C:T p.(His207Tyr) NC_000019.10:17772480:C:T Identity +NM_000751.3:c.1531G>A NP_000742.1:p.Val511Met NC_000002.12:232535288:G:A p.(Val511Met) NC_000002.12:232535288:G:A p.(Val511Met) NC_000002.12:232535288:G:A Identity +NM_001080467.3:c.1651G>A NP_001073936.1:p.Val551Ile NC_000018.10:49954329:C:T p.(Val551Ile) NC_000018.10:49954329:C:T p.(Val551Ile) NC_000018.10:49954329:C:T Identity +NM_001041.4:c.178T>C NP_001032.2:p.Ser60Pro NC_000003.12:165074607:A:G p.(Ser60Pro) NC_000003.12:165074607:A:G p.(Ser60Pro) NC_000003.12:165074607:A:G Identity +NM_001165412.2:c.728A>G NP_001158884.1:p.Lys243Arg NC_000004.12:102580534:A:G p.(Lys243Arg) NC_000004.12:102580534:A:G p.(Lys243Arg) NC_000004.12:102580534:A:G Identity +NM_032861.4:c.206A>G NP_116250.3:p.Glu69Gly NC_000006.12:158150511:T:C p.(Glu69Gly) NC_000006.12:158150511:T:C p.(Glu69Gly) NC_000006.12:158150511:T:C Identity +NM_014003.4:c.3385T>C NP_054722.2:p.Tyr1129His NC_000016.10:72109417:T:C p.(Tyr1129His) NC_000016.10:72109417:T:C p.(Tyr1129His) NC_000016.10:72109417:T:C Identity +NM_001197330.2:c.271C>A NP_001184259.1:p.Pro91Thr NC_000014.9:49674190:G:T p.(Pro91Thr) NC_000014.9:49674190:G:T p.(Pro91Thr) NC_000014.9:49674190:G:T Identity +NM_001308122.2:c.1300G>A NP_001295051.1:p.Gly434Ser NC_000005.10:132390864:G:A p.(Gly434Ser) NC_000005.10:132390864:G:A p.(Gly434Ser) NC_000005.10:132390864:G:A Identity +NM_006397.3:c.55C>G NP_006388.2:p.Pro19Ala NC_000019.10:12806727:C:G p.(Pro19Ala) NC_000019.10:12806727:C:G p.(Pro19Ala) NC_000019.10:12806727:C:G Identity +NM_025114.4:c.3542A>G NP_079390.3:p.Glu1181Gly NC_000012.12:88090758:T:C p.(Glu1181Gly) NC_000012.12:88090758:T:C p.(Glu1181Gly) NC_000012.12:88090758:T:C Identity +NM_001278511.2:c.448C>G NP_001265440.1:p.Gln150Glu NC_000015.10:82681155:G:C p.(Gln150Glu) NC_000015.10:82681155:G:C p.(Gln150Glu) NC_000015.10:82681155:G:C Identity +NM_001077416.2:c.443del NP_001070884.2:p.Asp148fs NC_000016.10:75555828:T: p.(Asp148ValfsTer45) NC_000016.10:75555828:T: p.(Asp148ValfsTer45) NC_000016.10:75555828:T: Analogous +NM_001195573.1:c.4462T>A NP_001182502.1:p.Ser1488Thr NC_000014.9:95096457:A:T p.(Ser1488Thr) NC_000014.9:95096457:A:T p.(Ser1488Thr) NC_000014.9:95096457:A:T Identity +NM_001271933.2:c.1937C>T NP_001258862.1:p.Ser646Phe NC_000011.10:117387405:C:T p.(Ser646Phe) NC_000011.10:117387405:C:T p.(Ser646Phe) NC_000011.10:117387405:C:T Identity +NM_000274.4:c.307A>G NP_000265.1:p.Ser103Gly NC_000010.11:124408857:T:C p.(Ser103Gly) NC_000010.11:124408857:T:C p.(Ser103Gly) NC_000010.11:124408857:T:C Identity +NM_001128227.3:c.701T>C NP_001121699.1:p.Met234Thr NC_000009.12:36246038:A:G p.(Met234Thr) NC_000009.12:36246038:A:G p.(Met234Thr) NC_000009.12:36246038:A:G Identity +NM_002485.5:c.190C>G NP_002476.2:p.Pro64Ala NC_000008.11:89981504:G:C p.(Pro64Ala) NC_000008.11:89981504:G:C p.(Pro64Ala) NC_000008.11:89981504:G:C Identity +NM_020778.5:c.3704C>T NP_065829.4:p.Ala1235Val NC_000015.10:84858441:C:T p.(Ala1235Val) NC_000015.10:84858441:C:T p.(Ala1235Val) NC_000015.10:84858441:C:T Identity +NM_024675.4:c.3557C>G NP_078951.2:p.Ser1186Ter NC_000016.10:23603462:G:C p.(Ser1186Ter) NC_000016.10:23603462:G:C p.(Ser1186Ter) NC_000016.10:23603462:G:C Identity +NM_001363711.2:c.1508T>C NP_001350640.1:p.Ile503Thr NC_000015.10:45108112:A:G p.(Ile503Thr) NC_000015.10:45108112:A:G p.(Ile503Thr) NC_000015.10:45108112:A:G Identity +NM_017780.4:c.7157T>G NP_060250.2:p.Leu2386Trp NC_000008.11:60856194:T:G p.(Leu2386Trp) NC_000008.11:60856194:T:G p.(Leu2386Trp) NC_000008.11:60856194:T:G Identity +NM_014714.4:c.2425C>T NP_055529.2:p.Arg809Cys NC_000016.10:1526770:G:A p.(Arg809Cys) NC_000016.10:1526770:G:A p.(Arg809Cys) NC_000016.10:1526770:G:A Identity +NM_001353229.2:c.864del NP_001340158.1:p.Glu289fs NC_000017.11:17221597:GG:G p.(Glu289ArgfsTer22) NC_000017.11:17221597:GG:G p.(Glu289ArgfsTer22) NC_000017.11:17221597:G: Analogous +NM_000271.5:c.2059A>G NP_000262.2:p.Ile687Val NC_000018.10:23544414:T:C p.(Ile687Val) NC_000018.10:23544414:T:C p.(Ile687Val) NC_000018.10:23544414:T:C Identity +NM_000283.4:c.1183A>G NP_000274.3:p.Ile395Val NC_000004.12:656948:A:G p.(Ile395Val) NC_000004.12:656948:A:G p.(Ile395Val) NC_000004.12:656948:A:G Identity +NM_000379.4:c.3994A>G NP_000370.2:p.Arg1332Gly NC_000002.12:31335965:T:C p.(Arg1332Gly) NC_000002.12:31335965:T:C p.(Arg1332Gly) NC_000002.12:31335965:T:C Identity +NM_000836.4:c.3182G>C NP_000827.2:p.Trp1061Ser NC_000019.10:48443107:G:C p.(Trp1061Ser) NC_000019.10:48443107:G:C p.(Trp1061Ser) NC_000019.10:48443107:G:C Identity +NM_001271466.4:c.2432C>A NP_001258395.2:p.Pro811Gln NC_000002.12:231370122:C:A p.(Pro811Gln) NC_000002.12:231370122:C:A p.(Pro811Gln) NC_000002.12:231370122:C:A Identity +NM_005502.4:c.3443C>T NP_005493.2:p.Thr1148Ile NC_000009.12:104818681:G:A p.(Thr1148Ile) NC_000009.12:104818681:G:A p.(Thr1148Ile) NC_000009.12:104818681:G:A Identity +NM_001304420.3:c.1220C>T NP_001291349.1:p.Thr407Ile NC_000003.12:57871668:C:T p.(Thr407Ile) NC_000003.12:57871668:C:T p.(Thr407Ile) NC_000003.12:57871668:C:T Identity +NM_000521.4:c.659T>C NP_000512.2:p.Leu220Pro NC_000005.10:74697095:T:C p.(Leu220Pro) NC_000005.10:74697095:T:C p.(Leu220Pro) NC_000005.10:74697095:T:C Identity +NM_006946.4:c.2536C>T NP_008877.2:p.Arg846Trp NC_000011.10:66704739:G:A p.(Arg846Trp) NC_000011.10:66704739:G:A p.(Arg846Trp) NC_000011.10:66704739:G:A Identity +NM_001142763.2:c.1699A>G NP_001136235.1:p.Thr567Ala NC_000010.11:54153199:T:C p.(Thr567Ala) NC_000010.11:54153199:T:C p.(Thr567Ala) NC_000010.11:54153199:T:C Identity +NM_018136.5:c.5260G>A NP_060606.3:p.Ala1754Thr NC_000001.11:197103990:C:T p.(Ala1754Thr) NC_000001.11:197103990:C:T p.(Ala1754Thr) NC_000001.11:197103990:C:T Identity +NM_006172.4:c.134A>G NP_006163.1:p.Asp45Gly NC_000001.11:11847428:T:C p.(Asp45Gly) NC_000001.11:11847428:T:C p.(Asp45Gly) NC_000001.11:11847428:T:C Identity +NM_001146289.2:c.2017G>A NP_001139761.1:p.Ala673Thr NC_000001.11:42747309:C:T p.(Ala673Thr) NC_000001.11:42747309:C:T p.(Ala673Thr) NC_000001.11:42747309:C:T Identity +NM_018163.3:c.367A>G NP_060633.1:p.Thr123Ala NC_000015.10:40776555:T:C p.(Thr123Ala) NC_000015.10:40776555:T:C p.(Thr123Ala) NC_000015.10:40776555:T:C Identity +NM_001347827.2:c.760A>G NP_001334756.1:p.Lys254Glu NC_000004.12:54267288:A:G p.(Lys254Glu) NC_000004.12:54267288:A:G p.(Lys254Glu) NC_000004.12:54267288:A:G Identity +NM_001145357.2:c.2353_2356del NP_001138829.1:p.Gln785fs NC_000015.10:75392736:TTTGTTTGT:TTTGT p.(Gln785TyrfsTer8) NC_000015.10:75392736:TTTGTTTGT:TTTGT p.(Gln785TyrfsTer8) NC_000015.10:75392736:TTTG: Analogous +NM_000660.7:c.183C>A NP_000651.3:p.Ser61Arg NC_000019.10:41352861:G:T p.(Ser61Arg) NC_000019.10:41352861:G:T p.(Ser61Arg) NC_000019.10:41352861:G:T Identity +NM_000334.4:c.3358T>C NP_000325.4:p.Ser1120Pro NC_000017.11:63947127:A:G p.(Ser1120Pro) NC_000017.11:63947127:A:G p.(Ser1120Pro) NC_000017.11:63947127:A:G Identity +NM_001039885.3:c.650dup NP_001034974.1:p.Val218fs NC_000019.10:46756098:CC:CCC p.(Val218GlyfsTer41) NC_000019.10:46756098:CC:CCC p.(Val218GlyfsTer41) ERR:SPDI Analogous +NM_000066.4:c.682G>A NP_000057.3:p.Glu228Lys NC_000001.11:56949736:C:T p.(Glu228Lys) NC_000001.11:56949736:C:T p.(Glu228Lys) NC_000001.11:56949736:C:T Identity +NM_001376.5:c.13204G>A NP_001367.2:p.Val4402Met NC_000014.9:102048013:G:A p.(Val4402Met) NC_000014.9:102048013:G:A p.(Val4402Met) NC_000014.9:102048013:G:A Identity +NM_001369.3:c.12772G>A NP_001360.1:p.Asp4258Asn NC_000005.10:13716623:C:T p.(Asp4258Asn) NC_000005.10:13716623:C:T p.(Asp4258Asn) NC_000005.10:13716623:C:T Identity +NM_001407849.1:c.1410C>G NP_001394778.1:p.Ile470Met NC_000017.11:43093976:G:C p.(Ile470Met) NC_000017.11:43093976:G:C p.(Ile470Met) NC_000017.11:43093976:G:C Identity +NM_001304482.2:c.3908G>A NP_001291411.1:p.Arg1303Gln NC_000003.12:47412389:G:A p.(Arg1303Gln) NC_000003.12:47412389:G:A p.(Arg1303Gln) NC_000003.12:47412389:G:A Identity +NM_001042385.2:c.1345G>A NP_001035844.1:p.Gly449Ser NC_000002.12:44326926:C:T p.(Gly449Ser) NC_000002.12:44326926:C:T p.(Gly449Ser) NC_000002.12:44326926:C:T Identity +NM_002238.4:c.91G>T NP_002229.1:p.Val31Leu NC_000001.11:211107365:C:A p.(Val31Leu) NC_000001.11:211107365:C:A p.(Val31Leu) NC_000001.11:211107365:C:A Identity +NM_001258214.1:c.490C>T NP_001245143.1:p.Pro164Ser NC_000001.11:67328209:C:T p.(Pro164Ser) NC_000001.11:67328209:C:T p.(Pro164Ser) NC_000001.11:67328209:C:T Identity +NM_005359.6:c.1579A>G NP_005350.1:p.Ile527Val NC_000018.10:51078386:A:G p.(Ile527Val) NC_000018.10:51078386:A:G p.(Ile527Val) NC_000018.10:51078386:A:G Identity +NM_007348.4:c.1306A>G NP_031374.2:p.Lys436Glu NC_000001.11:161846566:A:G p.(Lys436Glu) NC_000001.11:161846566:A:G p.(Lys436Glu) NC_000001.11:161846566:A:G Identity +NM_001193300.2:c.1787C>T NP_001180229.1:p.Ala596Val NC_000001.11:156176497:C:T p.(Ala596Val) NC_000001.11:156176497:C:T p.(Ala596Val) NC_000001.11:156176497:C:T Identity +NM_020693.4:c.3322G>A NP_065744.3:p.Val1108Ile NC_000011.10:117461539:C:T p.(Val1108Ile) NC_000011.10:117461539:C:T p.(Val1108Ile) NC_000011.10:117461539:C:T Identity +NM_001346850.2:c.1288G>C NP_001333779.1:p.Glu430Gln NC_000012.12:7070372:G:C p.(Glu430Gln) NC_000012.12:7070372:G:C p.(Glu430Gln) NC_000012.12:7070372:G:C Identity +NM_014797.3:c.1553C>G NP_055612.2:p.Ala518Gly NC_000006.12:109466391:G:C p.(Ala518Gly) NC_000006.12:109466391:G:C p.(Ala518Gly) NC_000006.12:109466391:G:C Identity +NM_001172631.3:c.158G>A NP_001166102.1:p.Ser53Asn NC_000014.9:102376878:G:A p.(Ser53Asn) NC_000014.9:102376878:G:A p.(Ser53Asn) NC_000014.9:102376878:G:A Identity +NM_001261406.2:c.600T>G NP_001248335.1:p.Ile200Met NC_000009.12:13222379:A:C p.(Ile200Met) NC_000009.12:13222379:A:C p.(Ile200Met) NC_000009.12:13222379:A:C Identity +NM_001375370.1:c.2842A>G NP_001362299.1:p.Ile948Val NC_000023.11:124081445:A:G p.(Ile948Val) NC_000023.11:124081445:A:G p.(Ile948Val) NC_000023.11:124081445:A:G Identity +NM_003737.4:c.2932C>T NP_003728.1:p.Arg978Cys NC_000011.10:6632579:G:A p.(Arg978Cys) NC_000011.10:6632579:G:A p.(Arg978Cys) NC_000011.10:6632579:G:A Identity +NM_001371271.1:c.4561C>G NP_001358200.1:p.His1521Asp NC_000002.12:120990474:C:G p.(His1521Asp) NC_000002.12:120990474:C:G p.(His1521Asp) NC_000002.12:120990474:C:G Identity +NM_001171087.3:c.1139C>G NP_001164558.1:p.Pro380Arg NC_000003.12:184355724:G:C p.(Pro380Arg) NC_000003.12:184355724:G:C p.(Pro380Arg) NC_000003.12:184355724:G:C Identity +NM_000448.3:c.2515C>T NP_000439.2:p.His839Tyr NC_000011.10:36575818:C:T p.(His839Tyr) NC_000011.10:36575818:C:T p.(His839Tyr) NC_000011.10:36575818:C:T Identity +NM_000245.4:c.3064C>G NP_000236.2:p.Arg1022Gly NC_000007.14:116774915:C:G p.(Arg1022Gly) NC_000007.14:116774915:C:G p.(Arg1022Gly) NC_000007.14:116774915:C:G Identity +NM_020964.3:c.3607C>T NP_066015.2:p.Arg1203Trp NC_000018.10:45915596:G:A p.(Arg1203Trp) NC_000018.10:45915596:G:A p.(Arg1203Trp) NC_000018.10:45915596:G:A Identity +NM_000548.5:c.3377A>G NP_000539.2:p.Asp1126Gly NC_000016.10:2079648:A:G p.(Asp1126Gly) NC_000016.10:2079648:A:G p.(Asp1126Gly) NC_000016.10:2079648:A:G Identity +NM_001281737.2:c.130G>T NP_001268666.1:p.Ala44Ser NC_000004.12:158682289:G:T p.(Ala44Ser) NC_000004.12:158682289:G:T p.(Ala44Ser) NC_000004.12:158682289:G:T Identity +NM_001363880.1:c.127C>T NP_001350809.1:p.Pro43Ser NC_000003.12:183072402:G:A p.(Pro43Ser) NC_000003.12:183072402:G:A p.(Pro43Ser) NC_000003.12:183072402:G:A Identity +NM_001346083.2:c.1018A>G NP_001333012.1:p.Ile340Val NC_000001.11:205061908:A:G p.(Ile340Val) NC_000001.11:205061908:A:G p.(Ile340Val) NC_000001.11:205061908:A:G Identity +NM_001190992.2:c.848_850del NP_001177921.1:p.Glu283del NC_000003.12:155842544:CTTC:C p.(Glu283del) NC_000003.12:155842544:CTTC:C p.(Glu283del) NC_000003.12:155842544:CTT: Identity +NM_000449.4:c.256A>G NP_000440.1:p.Asn86Asp NC_000001.11:151344824:T:C p.(Asn86Asp) NC_000001.11:151344824:T:C p.(Asn86Asp) NC_000001.11:151344824:T:C Identity +NM_001256267.2:c.418T>C NP_001243196.1:p.Tyr140His NC_000010.11:68121855:T:C p.(Tyr140His) NC_000010.11:68121855:T:C p.(Tyr140His) NC_000010.11:68121855:T:C Identity +NM_001271620.2:c.3657G>A NP_001258549.1:p.Met1219Ile NC_000016.10:49491292:C:T p.(Met1219Ile) NC_000016.10:49491292:C:T p.(Met1219Ile) NC_000016.10:49491292:C:T Identity +NM_001330504.2:c.608C>T NP_001317433.1:p.Ser203Phe NC_000016.10:5079786:C:T p.(Ser203Phe) NC_000016.10:5079786:C:T p.(Ser203Phe) NC_000016.10:5079786:C:T Identity +NM_001293273.2:c.781C>T NP_001280202.1:p.Gln261Ter NC_000003.12:183041701:G:A p.(Gln261Ter) NC_000003.12:183041701:G:A p.(Gln261Ter) NC_000003.12:183041701:G:A Identity +NM_000192.3:c.476A>C NP_000183.2:p.Lys159Thr NC_000012.12:114398606:T:G p.(Lys159Thr) NC_000012.12:114398606:T:G p.(Lys159Thr) NC_000012.12:114398606:T:G Identity +NM_020461.4:c.2981C>T NP_065194.3:p.Ala994Val NC_000022.11:50221377:G:A p.(Ala994Val) NC_000022.11:50221377:G:A p.(Ala994Val) NC_000022.11:50221377:G:A Identity +NM_000051.4:c.757G>A NP_000042.3:p.Glu253Lys NC_000011.10:108244881:G:A p.(Glu253Lys) NC_000011.10:108244881:G:A p.(Glu253Lys) NC_000011.10:108244881:G:A Identity +NM_001304288.2:c.310A>G NP_001291217.1:p.Ile104Val NC_000003.12:39410795:A:G p.(Ile104Val) NC_000003.12:39410795:A:G p.(Ile104Val) NC_000003.12:39410795:A:G Identity +NM_001139490.1:c.56G>T NP_001132962.1:p.Arg19Met NC_000002.12:238320717:G:T p.(Arg19Met) NC_000002.12:238320717:G:T p.(Arg19Met) NC_000002.12:238320717:G:T Identity +NM_005494.3:c.392G>T NP_005485.1:p.Gly131Val NC_000007.14:157382290:G:T p.(Gly131Val) NC_000007.14:157382290:G:T p.(Gly131Val) NC_000007.14:157382290:G:T Identity +NM_001206846.2:c.818A>G NP_001193775.1:p.Glu273Gly NC_000001.11:197143433:T:C p.(Glu273Gly) NC_000001.11:197143433:T:C p.(Glu273Gly) NC_000001.11:197143433:T:C Identity +NM_000734.4:c.253G>A NP_000725.1:p.Val85Ile NC_000001.11:167438616:C:T p.(Val85Ile) NC_000001.11:167438616:C:T p.(Val85Ile) NC_000001.11:167438616:C:T Identity +NM_001291860.2:c.11325_11331dup NP_001278789.1:p.Ala3778Ter NC_000001.11:21831675:CAGGTCAC:CAGGTCACAGGTCAC p.(Ala3778Ter) NC_000001.11:21831675:CAGGTCAC:CAGGTCACAGGTCAC p.(Ala3778Ter) ERR:SPDI Identity +NM_001256213.2:c.1129G>A NP_001243142.1:p.Asp377Asn NC_000019.10:41982003:C:T p.(Asp377Asn) NC_000019.10:41982003:C:T p.(Asp377Asn) NC_000019.10:41982003:C:T Identity +NM_000028.3:c.476A>G NP_000019.2:p.His159Arg NC_000001.11:99864400:A:G p.(His159Arg) NC_000001.11:99864400:A:G p.(His159Arg) NC_000001.11:99864400:A:G Identity +NM_001363722.2:c.508G>C NP_001350651.1:p.Glu170Gln NC_000006.12:69718990:C:G p.(Glu170Gln) NC_000006.12:69718990:C:G p.(Glu170Gln) NC_000006.12:69718990:C:G Identity +NM_001018037.2:c.6999C>G NP_001018047.1:p.Asn2333Lys NC_000009.12:77344241:C:G p.(Asn2333Lys) NC_000009.12:77344241:C:G p.(Asn2333Lys) NC_000009.12:77344241:C:G Identity +NM_001127487.2:c.5584G>C NP_001120959.1:p.Ala1862Pro NC_000007.14:128851468:G:C p.(Ala1862Pro) NC_000007.14:128851468:G:C p.(Ala1862Pro) NC_000007.14:128851468:G:C Identity +NM_015243.3:c.1849A>G NP_056058.2:p.Lys617Glu NC_000008.11:99147845:A:G p.(Lys617Glu) NC_000008.11:99147845:A:G p.(Lys617Glu) NC_000008.11:99147845:A:G Identity +NM_001190720.3:c.1415G>A NP_001177649.2:p.Arg472Gln NC_000008.11:42320762:G:A p.(Arg472Gln) NC_000008.11:42320762:G:A p.(Arg472Gln) NC_000008.11:42320762:G:A Identity +NM_001135999.2:c.2503A>G NP_001129471.2:p.Lys835Glu NC_000009.12:35555547:A:G p.(Lys835Glu) NC_000009.12:35555547:A:G p.(Lys835Glu) NC_000009.12:35555547:A:G Identity +NM_001384315.1:c.2107T>C NP_001371244.1:p.Ser703Pro NC_000020.11:41202809:A:G p.(Ser703Pro) NC_000020.11:41202809:A:G p.(Ser703Pro) NC_000020.11:41202809:A:G Identity +NM_014908.4:c.565T>A NP_055723.1:p.Phe189Ile NC_000009.12:128946738:A:T p.(Phe189Ile) NC_000009.12:128946738:A:T p.(Phe189Ile) NC_000009.12:128946738:A:T Identity +NM_000321.3:c.419C>A NP_000312.2:p.Thr140Asn NC_000013.11:48345117:C:A p.(Thr140Asn) NC_000013.11:48345117:C:A p.(Thr140Asn) NC_000013.11:48345117:C:A Identity +NM_001184751.2:c.929C>G NP_001171680.1:p.Pro310Arg NC_000011.10:46704652:C:G p.(Pro310Arg) NC_000011.10:46704652:C:G p.(Pro310Arg) NC_000011.10:46704652:C:G Identity +NM_001326358.2:c.860A>G NP_001313287.1:p.Asn287Ser NC_000016.10:77356023:T:C p.(Asn287Ser) NC_000016.10:77356023:T:C p.(Asn287Ser) NC_000016.10:77356023:T:C Identity +NM_001288781.1:c.1590G>A NP_001275710.1:p.Met530Ile NC_000014.9:88877403:G:A p.(Met530Ile) NC_000014.9:88877403:G:A p.(Met530Ile) NC_000014.9:88877403:G:A Identity +NM_001379286.1:c.68C>T NP_001366215.1:p.Ser23Leu NC_000016.10:49789518:G:A p.(Ser23Leu) NC_000016.10:49789518:G:A p.(Ser23Leu) NC_000016.10:49789518:G:A Identity +NM_001099403.2:c.861C>G NP_001092873.1:p.Ser287Arg NC_000004.12:80202322:C:G p.(Ser287Arg) NC_000004.12:80202322:C:G p.(Ser287Arg) NC_000004.12:80202322:C:G Identity +NM_001306090.2:c.1638G>T NP_001293019.1:p.Met546Ile NC_000004.12:5783625:G:T p.(Met546Ile) NC_000004.12:5783625:G:T p.(Met546Ile) NC_000004.12:5783625:G:T Identity +NM_001004334.4:c.6200A>G NP_001004334.3:p.Asp2067Gly NC_000017.11:38327368:T:C p.(Asp2067Gly) NC_000017.11:38327368:T:C p.(Asp2067Gly) NC_000017.11:38327368:T:C Identity +NM_001320923.2:c.2215G>A NP_001307852.1:p.Asp739Asn NC_000001.11:64844789:C:T p.(Asp739Asn) NC_000001.11:64844789:C:T p.(Asp739Asn) NC_000001.11:64844789:C:T Identity +NM_001142649.2:c.110G>A NP_001136121.1:p.Ser37Asn NC_000011.10:22211288:G:A p.(Ser37Asn) NC_000011.10:22211288:G:A p.(Ser37Asn) NC_000011.10:22211288:G:A Identity +NM_001304420.3:c.2426C>T NP_001291349.1:p.Ala809Val NC_000003.12:57927326:C:T p.(Ala809Val) NC_000003.12:57927326:C:T p.(Ala809Val) NC_000003.12:57927326:C:T Identity +NM_001159291.2:c.2152C>T NP_001152763.1:p.Arg718Trp NC_000006.12:109446306:G:A p.(Arg718Trp) NC_000006.12:109446306:G:A p.(Arg718Trp) NC_000006.12:109446306:G:A Identity +NM_001041.4:c.3463G>T NP_001032.2:p.Ala1155Ser NC_000003.12:165018026:C:A p.(Ala1155Ser) NC_000003.12:165018026:C:A p.(Ala1155Ser) NC_000003.12:165018026:C:A Identity +NM_001288607.2:c.2570G>A NP_001275536.1:p.Arg857Gln NC_000001.11:150559088:G:A p.(Arg857Gln) NC_000001.11:150559088:G:A p.(Arg857Gln) NC_000001.11:150559088:G:A Identity +NM_001113378.2:c.1976C>T NP_001106849.1:p.Ser659Phe NC_000015.10:89291697:C:T p.(Ser659Phe) NC_000015.10:89291697:C:T p.(Ser659Phe) NC_000015.10:89291697:C:T Identity +NM_001281428.2:c.610C>T NP_001268357.1:p.Gln204Ter NC_000009.12:34490464:C:T p.(Gln204Ter) NC_000009.12:34490464:C:T p.(Gln204Ter) NC_000009.12:34490464:C:T Identity +NM_001127198.5:c.1270G>T NP_001120670.1:p.Val424Leu NC_000017.11:78121668:C:A p.(Val424Leu) NC_000017.11:78121668:C:A p.(Val424Leu) NC_000017.11:78121668:C:A Identity +NM_001129.5:c.1981C>T NP_001120.3:p.Arg661Cys NC_000007.14:44111993:C:T p.(Arg661Cys) NC_000007.14:44111993:C:T p.(Arg661Cys) NC_000007.14:44111993:C:T Identity +NM_000322.5:c.721G>T NP_000313.2:p.Glu241Ter NC_000006.12:42704471:C:A p.(Glu241Ter) NC_000006.12:42704471:C:A p.(Glu241Ter) NC_000006.12:42704471:C:A Identity +NM_020964.3:c.4429C>T NP_066015.2:p.Pro1477Ser NC_000018.10:45904017:G:A p.(Pro1477Ser) NC_000018.10:45904017:G:A p.(Pro1477Ser) NC_000018.10:45904017:G:A Identity +NM_001256959.2:c.1639G>A NP_001243888.2:p.Asp547Asn NC_000001.11:11834501:G:A p.(Asp547Asn) NC_000001.11:11834501:G:A p.(Asp547Asn) NC_000001.11:11834501:G:A Identity +NM_000426.4:c.2486G>T NP_000417.3:p.Gly829Val NC_000006.12:129280095:G:T p.(Gly829Val) NC_000006.12:129280095:G:T p.(Gly829Val) NC_000006.12:129280095:G:T Identity +NM_000287.4:c.1826C>T NP_000278.3:p.Thr609Ile NC_000006.12:42967425:G:A p.(Thr609Ile) NC_000006.12:42967425:G:A p.(Thr609Ile) NC_000006.12:42967425:G:A Identity +NM_001330588.2:c.1889C>T NP_001317517.1:p.Pro630Leu NC_000013.11:102638290:C:T p.(Pro630Leu) NC_000013.11:102638290:C:T p.(Pro630Leu) NC_000013.11:102638290:C:T Identity +NM_032888.4:c.3616del NP_116277.2:p.Arg1206fs NC_000009.12:114275666:A: p.(Arg1206GlyfsTer18) NC_000009.12:114275666:A: p.(Arg1206GlyfsTer18) NC_000009.12:114275666:A: Analogous +NM_001190458.2:c.403A>G NP_001177387.1:p.Ser135Gly NC_000009.12:312031:A:G p.(Ser135Gly) NC_000009.12:312031:A:G p.(Ser135Gly) NC_000009.12:312031:A:G Identity +NM_001379500.1:c.3006C>G NP_001366429.1:p.His1002Gln NC_000021.9:45505270:C:G p.(His1002Gln) NC_000021.9:45505270:C:G p.(His1002Gln) NC_000021.9:45505270:C:G Identity +NM_001190799.2:c.5C>T NP_001177728.1:p.Ala2Val NC_000004.12:127881138:C:T p.(Ala2Val) NC_000004.12:127881138:C:T p.(Ala2Val) NC_000004.12:127881138:C:T Identity +NM_000702.4:c.1241C>T NP_000693.1:p.Pro414Leu NC_000001.11:160129003:C:T p.(Pro414Leu) NC_000001.11:160129003:C:T p.(Pro414Leu) NC_000001.11:160129003:C:T Identity +NM_000384.3:c.10330C>A NP_000375.3:p.Leu3444Ile NC_000002.12:21006537:G:T p.(Leu3444Ile) NC_000002.12:21006537:G:T p.(Leu3444Ile) NC_000002.12:21006537:G:T Identity +NM_001281428.2:c.264del NP_001268357.1:p.Gly89fs NC_000009.12:34489323:AA:A p.(Gly89AlafsTer9) NC_000009.12:34489323:AA:A p.(Gly89AlafsTer9) NC_000009.12:34489324:A: Analogous +NM_016180.5:c.1379C>T NP_057264.4:p.Ala460Val NC_000005.10:33944861:G:A p.(Ala460Val) NC_000005.10:33944861:G:A p.(Ala460Val) NC_000005.10:33944861:G:A Identity +NM_001126336.3:c.229G>A NP_001119808.1:p.Asp77Asn NC_000005.10:83490255:G:A p.(Asp77Asn) NC_000005.10:83490255:G:A p.(Asp77Asn) NC_000005.10:83490255:G:A Identity +NM_000089.4:c.3276del NP_000080.2:p.Gly1093fs NC_000007.14:94427634:T: p.(Gly1093ValfsTer11) NC_000007.14:94427634:T: p.(Gly1093ValfsTer11) NC_000007.14:94427634:T: Analogous +NM_005914.4:c.2533C>T NP_005905.2:p.Arg845Cys NC_000008.11:47976718:C:T p.(Arg845Cys) NC_000008.11:47976718:C:T p.(Arg845Cys) NC_000008.11:47976718:C:T Identity +NM_003803.4:c.1365G>T NP_003794.3:p.Trp455Cys NC_000018.10:3164413:C:A p.(Trp455Cys) NC_000018.10:3164413:C:A p.(Trp455Cys) NC_000018.10:3164413:C:A Identity +NM_001256850.1:c.90492C>G NP_001243779.1:p.Phe30164Leu NC_000002.12:178545820:G:C p.(Phe30164Leu) NC_000002.12:178545820:G:C p.(Phe30164Leu) NC_000002.12:178545820:G:C Identity +NM_004281.4:c.1407C>A NP_004272.2:p.Asp469Glu NC_000010.11:119676960:C:A p.(Asp469Glu) NC_000010.11:119676960:C:A p.(Asp469Glu) NC_000010.11:119676960:C:A Identity +NM_031935.3:c.14465G>A NP_114141.2:p.Ser4822Asn NC_000001.11:186145779:G:A p.(Ser4822Asn) NC_000001.11:186145779:G:A p.(Ser4822Asn) NC_000001.11:186145779:G:A Identity +NM_004855.5:c.1413T>A NP_004846.4:p.Asp471Glu NC_000015.10:55354872:T:A p.(Asp471Glu) NC_000015.10:55354872:T:A p.(Asp471Glu) NC_000015.10:55354872:T:A Identity +NM_001040428.4:c.215A>G NP_001035518.1:p.Lys72Arg NC_000014.9:88416782:A:G p.(Lys72Arg) NC_000014.9:88416782:A:G p.(Lys72Arg) NC_000014.9:88416782:A:G Identity +NM_001308133.2:c.2884G>A NP_001295062.1:p.Ala962Thr NC_000014.9:45175715:G:A p.(Ala962Thr) NC_000014.9:45175715:G:A p.(Ala962Thr) NC_000014.9:45175715:G:A Identity +NM_024685.4:c.708A>G NP_078961.3:p.Ile236Met NC_000012.12:76347276:T:C p.(Ile236Met) NC_000012.12:76347276:T:C p.(Ile236Met) NC_000012.12:76347276:T:C Identity +NM_024592.5:c.613C>T NP_078868.1:p.Leu205Phe NC_000004.12:55367637:C:T p.(Leu205Phe) NC_000004.12:55367637:C:T p.(Leu205Phe) NC_000004.12:55367637:C:T Identity +NM_001042749.2:c.2005C>A NP_001036214.1:p.Leu669Ile NC_000023.11:124064030:C:A p.(Leu669Ile) NC_000023.11:124064030:C:A p.(Leu669Ile) NC_000023.11:124064030:C:A Identity +NM_001379500.1:c.2113C>T NP_001366429.1:p.Pro705Ser NC_000021.9:45491269:C:T p.(Pro705Ser) NC_000021.9:45491269:C:T p.(Pro705Ser) NC_000021.9:45491269:C:T Identity +NM_001136052.3:c.1858C>T NP_001129524.1:p.Arg620Cys NC_000019.10:49711832:C:T p.(Arg620Cys) NC_000019.10:49711832:C:T p.(Arg620Cys) NC_000019.10:49711832:C:T Identity +NM_001277126.2:c.1450C>T NP_001264055.1:p.His484Tyr NC_000019.10:53810208:G:A p.(His484Tyr) NC_000019.10:53810208:G:A p.(His484Tyr) NC_000019.10:53810208:G:A Identity +NM_024700.4:c.860G>A NP_078976.2:p.Arg287His NC_000001.11:37540222:C:T p.(Arg287His) NC_000001.11:37540222:C:T p.(Arg287His) NC_000001.11:37540222:C:T Identity +NM_000077.5:c.391C>A NP_000068.1:p.Arg131Ser NC_000009.12:21970967:G:T p.(Arg131Ser) NC_000009.12:21970967:G:T p.(Arg131Ser) NC_000009.12:21970967:G:T Identity +NM_001283009.2:c.2544_2545delinsCT NP_001269938.1:p.Gly849Cys NC_000020.11:63690934:TG:CT p.(Gly849Cys) NC_000020.11:63690934:TG:CT p.(Gly849Cys) NC_000020.11:63690934:TG:CT Identity +NM_001310332.2:c.107T>C NP_001297261.1:p.Leu36Pro NC_000014.9:24148804:T:C p.(Leu36Pro) NC_000014.9:24148804:T:C p.(Leu36Pro) NC_000014.9:24148804:T:C Identity +NM_001288951.2:c.620C>T NP_001275880.1:p.Ala207Val NC_000002.12:46975074:C:T p.(Ala207Val) NC_000002.12:46975074:C:T p.(Ala207Val) NC_000002.12:46975074:C:T Identity +NM_152383.5:c.2245G>T NP_689596.4:p.Val749Leu NC_000002.12:232334454:G:T p.(Val749Leu) NC_000002.12:232334454:G:T p.(Val749Leu) NC_000002.12:232334454:G:T Identity +NM_000432.4:c.325G>T NP_000423.2:p.Glu109Ter NC_000012.12:110913273:C:A p.(Glu109Ter) NC_000012.12:110913273:C:A p.(Glu109Ter) NC_000012.12:110913273:C:A Identity +NM_000323.2:c.1993C>T NP_000314.1:p.His665Tyr NC_000010.11:43114592:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_006445.4:c.3126G>C NP_006436.3:p.Gln1042His NC_000017.11:1674614:C:G p.(Gln1042His) NC_000017.11:1674614:C:G p.(Gln1042His) NC_000017.11:1674614:C:G Identity +NM_000548.5:c.4103G>T NP_000539.2:p.Gly1368Val NC_000016.10:2084324:G:T p.(Gly1368Val) NC_000016.10:2084324:G:T p.(Gly1368Val) NC_000016.10:2084324:G:T Identity +NM_000257.4:c.5130T>G NP_000248.2:p.Ser1710Arg NC_000014.9:23415655:A:C p.(Ser1710Arg) NC_000014.9:23415655:A:C p.(Ser1710Arg) NC_000014.9:23415655:A:C Identity +NM_007129.5:c.143G>A NP_009060.2:p.Gly48Asp NC_000013.11:99982206:G:A p.(Gly48Asp) NC_000013.11:99982206:G:A p.(Gly48Asp) NC_000013.11:99982206:G:A Identity +NM_001142555.3:c.920T>A NP_001136027.1:p.Phe307Tyr NC_000019.10:40700166:A:T p.(Phe307Tyr) NC_000019.10:40700166:A:T p.(Phe307Tyr) NC_000019.10:40700166:A:T Identity +NM_001408.3:c.5399A>T NP_001399.1:p.Asn1800Ile NC_000001.11:109264562:A:T p.(Asn1800Ile) NC_000001.11:109264562:A:T p.(Asn1800Ile) NC_000001.11:109264562:A:T Identity +NM_001367759.1:c.3434G>C NP_001354688.1:p.Arg1145Thr NC_000006.12:121112517:C:G p.(Arg1145Thr) NC_000006.12:121112517:C:G p.(Arg1145Thr) NC_000006.12:121112517:C:G Identity +NM_001363813.1:c.2276A>T NP_001350742.1:p.Asp759Val NC_000017.11:65530036:T:A p.(Asp759Val) NC_000017.11:65530036:T:A p.(Asp759Val) NC_000017.11:65530036:T:A Identity +NM_015180.6:c.12461G>A NP_055995.4:p.Arg4154Lys NC_000014.9:64102010:G:A p.(Arg4154Lys) NC_000014.9:64102010:G:A p.(Arg4154Lys) NC_000014.9:64102010:G:A Identity +NM_001025107.3:c.326T>C NP_001020278.1:p.Val109Ala NC_000001.11:154601430:A:G p.(Val109Ala) NC_000001.11:154601430:A:G p.(Val109Ala) NC_000001.11:154601430:A:G Identity +NM_024312.5:c.2042A>G NP_077288.2:p.His681Arg NC_000012.12:101764874:T:C p.(His681Arg) NC_000012.12:101764874:T:C p.(His681Arg) NC_000012.12:101764874:T:C Identity +NM_000065.5:c.1177G>C NP_000056.2:p.Glu393Gln NC_000005.10:41172338:C:G p.(Glu393Gln) NC_000005.10:41172338:C:G p.(Glu393Gln) NC_000005.10:41172338:C:G Identity +NM_001304481.2:c.2489G>T NP_001291410.1:p.Gly830Val NC_000012.12:32640465:G:T p.(Gly830Val) NC_000012.12:32640465:G:T p.(Gly830Val) NC_000012.12:32640465:G:T Identity +NM_007215.4:c.1435A>G NP_009146.2:p.Ile479Val NC_000017.11:64477845:T:C p.(Ile479Val) NC_000017.11:64477845:T:C p.(Ile479Val) NC_000017.11:64477845:T:C Identity +NM_017882.3:c.553TTC[1] NP_060352.1:p.Phe186del NC_000015.10:68209743:GAAGAAG:GAAG p.(Phe186del) NC_000015.10:68209748:A:GAA ERR:Parse ERR:Parse Identity +NM_001277115.2:c.6217G>A NP_001264044.1:p.Val2073Ile NC_000007.14:21702745:G:A p.(Val2073Ile) NC_000007.14:21702745:G:A p.(Val2073Ile) NC_000007.14:21702745:G:A Identity +NM_001002295.2:c.836del NP_001002295.1:p.Gly279fs NC_000010.11:8064048:GG:G p.(Gly279AlafsTer16) NC_000010.11:8064048:GG:G p.(Gly279AlafsTer16) NC_000010.11:8064049:G: Analogous +NM_004525.3:c.13294C>T NP_004516.2:p.Leu4432Phe NC_000002.12:169139344:G:A p.(Leu4432Phe) NC_000002.12:169139344:G:A p.(Leu4432Phe) NC_000002.12:169139344:G:A Identity +NM_012079.6:c.109G>A NP_036211.2:p.Gly37Ser NC_000008.11:144326527:C:T p.(Gly37Ser) NC_000008.11:144326527:C:T p.(Gly37Ser) NC_000008.11:144326527:C:T Identity +NM_021942.6:c.778C>G NP_068761.4:p.His260Asp NC_000004.12:183677500:C:G p.(His260Asp) NC_000004.12:183677500:C:G p.(His260Asp) NC_000004.12:183677500:C:G Identity +NM_001159772.2:c.311G>A NP_001153244.1:p.Arg104Gln NC_000017.11:78997311:C:T p.(Arg104Gln) NC_000017.11:78997311:C:T p.(Arg104Gln) NC_000017.11:78997311:C:T Identity +NM_001122681.2:c.664C>T NP_001116153.1:p.Arg222Trp NC_000004.12:2829569:C:T p.(Arg222Trp) NC_000004.12:2829569:C:T p.(Arg222Trp) NC_000004.12:2829569:C:T Identity +NM_018682.4:c.4162G>A NP_061152.3:p.Glu1388Lys NC_000007.14:105111917:G:A p.(Glu1388Lys) NC_000007.14:105111917:G:A p.(Glu1388Lys) NC_000007.14:105111917:G:A Identity +NM_001172644.2:c.107G>T NP_001166115.1:p.Arg36Leu NC_000016.10:66549954:C:A p.(Arg36Leu) NC_000016.10:66549954:C:A p.(Arg36Leu) NC_000016.10:66549954:C:A Identity +NM_006946.4:c.6703G>A NP_008877.2:p.Gly2235Arg NC_000011.10:66687445:C:T p.(Gly2235Arg) NC_000011.10:66687445:C:T p.(Gly2235Arg) NC_000011.10:66687445:C:T Identity +NM_024589.3:c.554C>G NP_078865.1:p.Pro185Arg NC_000016.10:4798161:G:C p.(Pro185Arg) NC_000016.10:4798161:G:C p.(Pro185Arg) NC_000016.10:4798161:G:C Identity +NM_005914.4:c.196G>C NP_005905.2:p.Asp66His NC_000008.11:47961640:G:C p.(Asp66His) NC_000008.11:47961640:G:C p.(Asp66His) NC_000008.11:47961640:G:C Identity +NM_007055.4:c.2611A>C NP_008986.2:p.Met871Leu NC_000010.11:77999985:T:G p.(Met871Leu) NC_000010.11:77999985:T:G p.(Met871Leu) NC_000010.11:77999985:T:G Identity +NM_001167614.2:c.2615A>G NP_001161086.1:p.His872Arg NC_000012.12:65246206:A:G p.(His872Arg) NC_000012.12:65246206:A:G p.(His872Arg) NC_000012.12:65246206:A:G Identity +NM_052859.4:c.1590G>C NP_443091.1:p.Gln530His NC_000003.12:53091938:C:G p.(Gln530His) NC_000003.12:53091938:C:G p.(Gln530His) NC_000003.12:53091938:C:G Identity +NM_013432.5:c.1117C>T NP_038460.4:p.Arg373Cys NC_000008.11:144440764:G:A p.(Arg373Cys) NC_000008.11:144440764:G:A p.(Arg373Cys) NC_000008.11:144440764:G:A Identity +NM_001042413.2:c.1416G>T NP_001035878.1:p.Glu472Asp NC_000009.12:4118061:C:A p.(Glu472Asp) NC_000009.12:4118061:C:A p.(Glu472Asp) NC_000009.12:4118061:C:A Identity +NM_001077516.2:c.860A>G NP_001070984.1:p.Gln287Arg NC_000006.12:33202619:A:G p.(Gln287Arg) NC_000006.12:33202619:A:G p.(Gln287Arg) NC_000006.12:33202619:A:G Identity +NM_001271667.2:c.806A>G NP_001258596.1:p.Asp269Gly NC_000006.12:15522981:T:C p.(Asp269Gly) NC_000006.12:15522981:T:C p.(Asp269Gly) NC_000006.12:15522981:T:C Identity +NM_001367624.2:c.10012G>T NP_001354553.1:p.Asp3338Tyr NC_000016.10:88437481:G:T p.(Asp3338Tyr) NC_000016.10:88437481:G:T p.(Asp3338Tyr) NC_000016.10:88437481:G:T Identity +NM_001040134.2:c.544C>A NP_001035224.1:p.Pro182Thr NC_000019.10:746325:C:A p.(Pro182Thr) NC_000019.10:746325:C:A p.(Pro182Thr) NC_000019.10:746325:C:A Identity +NM_018946.4:c.1073A>G NP_061819.2:p.Lys358Arg NC_000009.12:98083047:A:G p.(Lys358Arg) NC_000009.12:98083047:A:G p.(Lys358Arg) NC_000009.12:98083047:A:G Identity +NM_003705.5:c.1705C>T NP_003696.2:p.Arg569Trp NC_000002.12:171787827:G:A p.(Arg569Trp) NC_000002.12:171787827:G:A p.(Arg569Trp) NC_000002.12:171787827:G:A Identity +NM_144643.4:c.524A>G NP_653244.2:p.His175Arg NC_000004.12:128999696:T:C p.(His175Arg) NC_000004.12:128999696:T:C p.(His175Arg) NC_000004.12:128999696:T:C Identity +NM_001379200.1:c.1148C>A NP_001366129.1:p.Pro383His NC_000022.11:19766499:C:A p.(Pro383His) NC_000022.11:19766499:C:A p.(Pro383His) NC_000022.11:19766499:C:A Identity +NM_000033.4:c.1247C>A NP_000024.2:p.Thr416Lys NC_000023.11:153736366:C:A p.(Thr416Lys) NC_000023.11:153736366:C:A p.(Thr416Lys) NC_000023.11:153736366:C:A Identity +NM_014053.4:c.619C>A NP_054772.1:p.Gln207Lys NC_000001.11:212859070:C:A p.(Gln207Lys) NC_000001.11:212859070:C:A p.(Gln207Lys) NC_000001.11:212859070:C:A Identity +NM_001134363.3:c.14C>T NP_001127835.2:p.Ala5Val NC_000010.11:110644467:C:T p.(Ala5Val) NC_000010.11:110644467:C:T p.(Ala5Val) NC_000010.11:110644467:C:T Identity +NM_004807.3:c.1012G>A NP_004798.3:p.Glu338Lys NC_000002.12:128268385:C:T p.(Glu338Lys) NC_000002.12:128268385:C:T p.(Glu338Lys) NC_000002.12:128268385:C:T Identity +NM_001280541.2:c.2644C>T NP_001267470.1:p.Arg882Ter NC_000003.12:129506425:C:T p.(Arg882Ter) NC_000003.12:129506425:C:T p.(Arg882Ter) NC_000003.12:129506425:C:T Identity +NM_005732.4:c.3332T>G NP_005723.2:p.Met1111Arg NC_000005.10:132618236:T:G p.(Met1111Arg) NC_000005.10:132618236:T:G p.(Met1111Arg) NC_000005.10:132618236:T:G Identity +NM_001308133.2:c.4351C>A NP_001295062.1:p.Pro1451Thr NC_000014.9:45183815:C:A p.(Pro1451Thr) NC_000014.9:45183815:C:A p.(Pro1451Thr) NC_000014.9:45183815:C:A Identity +NM_001320415.2:c.263G>A NP_001307344.1:p.Ser88Asn NC_000014.9:65076506:C:T p.(Ser88Asn) NC_000014.9:65076506:C:T p.(Ser88Asn) NC_000014.9:65076506:C:T Identity +NM_000273.3:c.1060G>A NP_000264.2:p.Gly354Arg NC_000023.11:9739544:C:T p.(Gly354Arg) NC_000023.11:9739544:C:T p.(Gly354Arg) NC_000023.11:9739544:C:T Identity +NM_000098.3:c.989del NP_000089.1:p.Phe330fs NC_000001.11:53210661:TT:T p.(Phe330SerfsTer90) NC_000001.11:53210661:TT:T p.(Phe330SerfsTer90) NC_000001.11:53210662:T: Analogous +NM_001017423.2:c.2264T>G NP_001017423.1:p.Leu755Arg NC_000010.11:95606879:A:C p.(Leu755Arg) NC_000010.11:95606879:A:C p.(Leu755Arg) NC_000010.11:95606879:A:C Identity +NM_172364.5:c.3233C>T NP_758952.4:p.Ala1078Val NC_000012.12:1795374:G:A p.(Ala1078Val) NC_000012.12:1795374:G:A p.(Ala1078Val) NC_000012.12:1795374:G:A Identity +NM_003823.4:c.401C>G NP_003814.1:p.Pro134Arg NC_000020.11:63697167:C:G p.(Pro134Arg) NC_000020.11:63697167:C:G p.(Pro134Arg) NC_000020.11:63697167:C:G Identity +NM_001271620.2:c.2815A>G NP_001258549.1:p.Ser939Gly NC_000016.10:49636156:T:C p.(Ser939Gly) NC_000016.10:49636156:T:C p.(Ser939Gly) NC_000016.10:49636156:T:C Identity +NM_052859.4:c.839T>C NP_443091.1:p.Ile280Thr NC_000003.12:53105790:A:G p.(Ile280Thr) NC_000003.12:53105790:A:G p.(Ile280Thr) NC_000003.12:53105790:A:G Identity +NM_032195.3:c.6703C>T NP_115571.3:p.Pro2235Ser NC_000021.9:33559921:C:T p.(Pro2235Ser) NC_000021.9:33559921:C:T p.(Pro2235Ser) NC_000021.9:33559921:C:T Identity +NM_001317924.2:c.1439A>T NP_001304853.1:p.Asn480Ile NC_000004.12:39228626:A:T p.(Asn480Ile) NC_000004.12:39228626:A:T p.(Asn480Ile) NC_000004.12:39228626:A:T Identity +NM_000834.5:c.4429C>G NP_000825.2:p.Leu1477Val NC_000012.12:13562808:G:C p.(Leu1477Val) NC_000012.12:13562808:G:C p.(Leu1477Val) NC_000012.12:13562808:G:C Identity +NM_001277961.3:c.1396C>T NP_001264890.1:p.Pro466Ser NC_000011.10:4083419:C:T p.(Pro466Ser) NC_000011.10:4083419:C:T p.(Pro466Ser) NC_000011.10:4083419:C:T Identity +NM_001256850.1:c.96325A>T NP_001243779.1:p.Ile32109Phe NC_000002.12:178535366:T:A p.(Ile32109Phe) NC_000002.12:178535366:T:A p.(Ile32109Phe) NC_000002.12:178535366:T:A Identity +NM_001377156.1:c.1724A>G NP_001364085.1:p.Lys575Arg NC_000007.14:5712801:T:C p.(Lys575Arg) NC_000007.14:5712801:T:C p.(Lys575Arg) NC_000007.14:5712801:T:C Identity +NM_001271440.2:c.441_444del NP_001258369.1:p.Glu148fs NC_000021.9:44331943:CTCTCTCTCT:CTCTCT p.(Glu148AlafsTer13) NC_000021.9:44331943:CTCTCTCTCT:CTCTCT p.(Glu148AlafsTer13) NC_000021.9:44331943:CTCT: Analogous +NM_001184.4:c.6404C>G NP_001175.2:p.Pro2135Arg NC_000003.12:142469484:G:C p.(Pro2135Arg) NC_000003.12:142469484:G:C p.(Pro2135Arg) NC_000003.12:142469484:G:C Identity +NM_001282489.3:c.178C>T NP_001269418.1:p.Arg60Trp NC_000017.11:74920348:G:A p.(Arg60Trp) NC_000017.11:74920348:G:A p.(Arg60Trp) NC_000017.11:74920348:G:A Identity +NM_001127384.3:c.2054G>C NP_001120856.1:p.Ser685Thr NC_000010.11:66069412:C:G p.(Ser685Thr) NC_000010.11:66069412:C:G p.(Ser685Thr) NC_000010.11:66069412:C:G Identity +NM_000059.4:c.6056A>G NP_000050.3:p.Asn2019Ser NC_000013.11:32340410:A:G p.(Asn2019Ser) NC_000013.11:32340410:A:G p.(Asn2019Ser) NC_000013.11:32340410:A:G Identity +NM_003803.4:c.2383C>T NP_003794.3:p.Arg795Ter NC_000018.10:3134650:G:A p.(Arg795Ter) NC_000018.10:3134650:G:A p.(Arg795Ter) NC_000018.10:3134650:G:A Identity +NM_000172.4:c.10G>C NP_000163.2:p.Gly4Arg NC_000003.12:50191734:G:C p.(Gly4Arg) NC_000003.12:50191734:G:C p.(Gly4Arg) NC_000003.12:50191734:G:C Identity +NM_001164730.2:c.265A>G NP_001158202.1:p.Lys89Glu NC_000002.12:86254752:T:C p.(Lys89Glu) NC_000002.12:86254752:T:C p.(Lys89Glu) NC_000002.12:86254752:T:C Identity +NM_000077.5:c.133_135del NP_000068.1:p.Gly45del NC_000009.12:21974692:ACC: p.(Gly45del) NC_000009.12:21974692:ACC: p.(Gly45del) NC_000009.12:21974692:ACC: Identity +NM_001128610.3:c.2972G>A NP_001122082.1:p.Arg991Gln NC_000015.10:50497164:G:A p.(Arg991Gln) NC_000015.10:50497164:G:A p.(Arg991Gln) NC_000015.10:50497164:G:A Identity +NM_003924.4:c.256T>A NP_003915.2:p.Phe86Ile NC_000004.12:41747521:A:T p.(Phe86Ile) NC_000004.12:41747521:A:T p.(Phe86Ile) NC_000004.12:41747521:A:T Identity +NM_014423.4:c.3116C>T NP_055238.1:p.Ser1039Phe NC_000005.10:132885102:G:A p.(Ser1039Phe) NC_000005.10:132885102:G:A p.(Ser1039Phe) NC_000005.10:132885102:G:A Identity +NM_000096.4:c.2518C>G NP_000087.2:p.Gln840Glu NC_000003.12:149182040:G:C p.(Gln840Glu) NC_000003.12:149182040:G:C p.(Gln840Glu) NC_000003.12:149182040:G:C Identity +NM_001127698.2:c.1709A>C NP_001121170.1:p.Tyr570Ser NC_000005.10:148111783:A:C p.(Tyr570Ser) NC_000005.10:148111783:A:C p.(Tyr570Ser) NC_000005.10:148111783:A:C Identity +NM_003140.3:c.253A>G NP_003131.1:p.Met85Val NC_000024.10:2787350:T:C p.(Met85Val) NC_000024.10:2787350:T:C p.(Met85Val) NC_000024.10:2787350:T:C Identity +NM_001189.4:c.355G>C NP_001180.1:p.Ala119Pro NC_000004.12:13544059:C:G p.(Ala119Pro) NC_000004.12:13544059:C:G p.(Ala119Pro) NC_000004.12:13544059:C:G Identity +NM_005859.5:c.79G>C NP_005850.1:p.Gly27Arg NC_000005.10:140114259:G:C p.(Gly27Arg) NC_000005.10:140114259:G:C p.(Gly27Arg) NC_000005.10:140114259:G:C Identity +NM_002238.4:c.892A>G NP_002229.1:p.Ile298Val NC_000001.11:211018922:T:C p.(Ile298Val) NC_000001.11:211018922:T:C p.(Ile298Val) NC_000001.11:211018922:T:C Identity +NM_001127505.3:c.443A>G NP_001120977.1:p.His148Arg NC_000008.11:18063226:T:C p.(His148Arg) NC_000008.11:18063226:T:C p.(His148Arg) NC_000008.11:18063226:T:C Identity +NM_001942.4:c.3133G>A NP_001933.2:p.Val1045Met NC_000018.10:31355328:G:A p.(Val1045Met) NC_000018.10:31355328:G:A p.(Val1045Met) NC_000018.10:31355328:G:A Identity +NM_001282403.2:c.728G>C NP_001269332.1:p.Cys243Ser NC_000007.14:76064921:G:C p.(Cys243Ser) NC_000007.14:76064921:G:C p.(Cys243Ser) NC_000007.14:76064921:G:C Identity +NM_000038.6:c.6494C>G NP_000029.2:p.Pro2165Arg NC_000005.10:112842087:C:G p.(Pro2165Arg) NC_000005.10:112842087:C:G p.(Pro2165Arg) NC_000005.10:112842087:C:G Identity +NM_014727.3:c.6266G>C NP_055542.1:p.Gly2089Ala NC_000019.10:35732814:G:C p.(Gly2089Ala) NC_000019.10:35732814:G:C p.(Gly2089Ala) NC_000019.10:35732814:G:C Identity +NM_000372.5:c.706T>C NP_000363.1:p.Trp236Arg NC_000011.10:89178658:T:C p.(Trp236Arg) NC_000011.10:89178658:T:C p.(Trp236Arg) NC_000011.10:89178658:T:C Identity +NM_001168370.2:c.4156G>A NP_001161842.2:p.Glu1386Lys NC_000006.12:43040389:C:T p.(Glu1386Lys) NC_000006.12:43040389:C:T p.(Glu1386Lys) NC_000006.12:43040389:C:T Identity +NM_001291285.3:c.11165C>G NP_001278214.1:p.Pro3722Arg NC_000004.12:125452174:C:G p.(Pro3722Arg) NC_000004.12:125452174:C:G p.(Pro3722Arg) NC_000004.12:125452174:C:G Identity +NM_144701.3:c.338T>C NP_653302.2:p.Leu113Pro NC_000001.11:67169608:T:C p.(Leu113Pro) NC_000001.11:67169608:T:C p.(Leu113Pro) NC_000001.11:67169608:T:C Identity +NM_024675.4:c.450G>T NP_078951.2:p.Gln150His NC_000016.10:23636095:C:A p.(Gln150His) NC_000016.10:23636095:C:A p.(Gln150His) NC_000016.10:23636095:C:A Identity +NM_024652.6:c.3718C>T NP_078928.3:p.His1240Tyr NC_000015.10:101052949:C:T p.(His1240Tyr) NC_000015.10:101052949:C:T p.(His1240Tyr) NC_000015.10:101052949:C:T Identity +NM_001130438.3:c.5527A>G NP_001123910.1:p.Lys1843Glu NC_000009.12:128618034:A:G p.(Lys1843Glu) NC_000009.12:128618034:A:G p.(Lys1843Glu) NC_000009.12:128618034:A:G Identity +NM_000235.4:c.416T>G NP_000226.2:p.Phe139Cys NC_000010.11:89228211:A:C p.(Phe139Cys) NC_000010.11:89228211:A:C p.(Phe139Cys) NC_000010.11:89228211:A:C Identity +NM_020778.5:c.3532G>A NP_065829.4:p.Gly1178Arg NC_000015.10:84858269:G:A p.(Gly1178Arg) NC_000015.10:84858269:G:A p.(Gly1178Arg) NC_000015.10:84858269:G:A Identity +NM_002500.5:c.112A>G NP_002491.3:p.Lys38Glu NC_000002.12:181678748:T:C p.(Lys38Glu) NC_000002.12:181678748:T:C p.(Lys38Glu) NC_000002.12:181678748:T:C Identity +NM_001384880.1:c.429C>G NP_001371809.1:p.Asp143Glu NC_000002.12:191001106:G:C p.(Asp143Glu) NC_000002.12:191001106:G:C p.(Asp143Glu) NC_000002.12:191001106:G:C Identity +NM_001291285.3:c.14601_14602delinsGC NP_001278214.1:p.Met4868Leu NC_000004.12:125491419:AA:GC p.(Met4868Leu) NC_000004.12:125491419:AA:GC p.(Met4868Leu) NC_000004.12:125491419:AA:GC Identity +NM_001193307.2:c.4760A>T NP_001180236.1:p.Glu1587Val NC_000007.14:93101337:T:A p.(Glu1587Val) NC_000007.14:93101337:T:A p.(Glu1587Val) NC_000007.14:93101337:T:A Identity +NM_001042413.2:c.2636C>G NP_001035878.1:p.Ser879Trp NC_000009.12:3829329:G:C p.(Ser879Trp) NC_000009.12:3829329:G:C p.(Ser879Trp) NC_000009.12:3829329:G:C Identity +NM_000388.4:c.2957C>A NP_000379.3:p.Ala986Asp NC_000003.12:122284910:C:A p.(Ala986Asp) NC_000003.12:122284910:C:A p.(Ala986Asp) NC_000003.12:122284910:C:A Identity +NM_001363711.2:c.3646C>T NP_001350640.1:p.Arg1216Trp NC_000015.10:45097660:G:A p.(Arg1216Trp) NC_000015.10:45097660:G:A p.(Arg1216Trp) NC_000015.10:45097660:G:A Identity +NM_001377289.1:c.1754T>A NP_001364218.1:p.Leu585His NC_000006.12:70232632:A:T p.(Leu585His) NC_000006.12:70232632:A:T p.(Leu585His) NC_000006.12:70232632:A:T Identity +NM_001037811.2:c.455A>G NP_001032900.1:p.Asn152Ser NC_000023.11:53432018:T:C p.(Asn152Ser) NC_000023.11:53432018:T:C p.(Asn152Ser) NC_000023.11:53432018:T:C Identity +NM_153603.4:c.173C>G NP_705831.1:p.Thr58Arg NC_000016.10:23445957:G:C p.(Thr58Arg) NC_000016.10:23445957:G:C p.(Thr58Arg) NC_000016.10:23445957:G:C Identity +NM_024747.6:c.1114C>T NP_079023.2:p.Arg372Ter NC_000010.11:102066587:C:T p.(Arg372Ter) NC_000010.11:102066587:C:T p.(Arg372Ter) NC_000010.11:102066587:C:T Identity +NM_000334.4:c.3904A>G NP_000325.4:p.Lys1302Glu NC_000017.11:63944680:T:C p.(Lys1302Glu) NC_000017.11:63944680:T:C p.(Lys1302Glu) NC_000017.11:63944680:T:C Identity +NM_017617.5:c.5101G>A NP_060087.3:p.Ala1701Thr NC_000009.12:136503247:C:T p.(Ala1701Thr) NC_000009.12:136503247:C:T p.(Ala1701Thr) NC_000009.12:136503247:C:T Identity +NM_014510.3:c.326G>A NP_055325.2:p.Gly109Asp NC_000007.14:83156314:C:T p.(Gly109Asp) NC_000007.14:83156314:C:T p.(Gly109Asp) NC_000007.14:83156314:C:T Identity +NM_000720.4:c.1396A>G NP_000711.1:p.Met466Val NC_000003.12:53718305:A:G p.(Met466Val) NC_000003.12:53718305:A:G p.(Met466Val) NC_000003.12:53718305:A:G Identity +NM_000257.4:c.2581_2582delinsTT NP_000248.2:p.Glu861Leu NC_000014.9:23424865:TC:AA p.(Glu861Leu) NC_000014.9:23424865:TC:AA p.(Glu861Leu) NC_000014.9:23424865:TC:AA Identity +NM_001386187.2:c.2774C>T NP_001373116.1:p.Ala925Val NC_000004.12:113318529:C:T p.(Ala925Val) NC_000004.12:113318529:C:T p.(Ala925Val) NC_000004.12:113318529:C:T Identity +NM_003482.4:c.11006G>A NP_003473.3:p.Gly3669Asp NC_000012.12:49033698:C:T p.(Gly3669Asp) NC_000012.12:49033698:C:T p.(Gly3669Asp) NC_000012.12:49033698:C:T Identity +NM_001256267.2:c.3385C>A NP_001243196.1:p.His1129Asn NC_000010.11:68199466:C:A p.(His1129Asn) NC_000010.11:68199466:C:A p.(His1129Asn) NC_000010.11:68199466:C:A Identity +NM_001042572.3:c.1225A>G NP_001036037.1:p.Asn409Asp NC_000015.10:92946063:A:G p.(Asn409Asp) NC_000015.10:92946063:A:G p.(Asn409Asp) NC_000015.10:92946063:A:G Identity +NM_001558.4:c.1111G>A NP_001549.2:p.Gly371Arg NC_000011.10:117999014:G:A p.(Gly371Arg) NC_000011.10:117999014:G:A p.(Gly371Arg) NC_000011.10:117999014:G:A Identity +NM_000081.4:c.10G>A NP_000072.2:p.Asp4Asn NC_000001.11:235830407:C:T p.(Asp4Asn) NC_000001.11:235830407:C:T p.(Asp4Asn) NC_000001.11:235830407:C:T Identity +NM_001001557.4:c.1333G>C NP_001001557.1:p.Glu445Gln NC_000008.11:96144597:C:G p.(Glu445Gln) NC_000008.11:96144597:C:G p.(Glu445Gln) NC_000008.11:96144597:C:G Identity +NM_002444.3:c.326G>A NP_002435.1:p.Gly109Asp NC_000023.11:65729570:G:A p.(Gly109Asp) NC_000023.11:65729570:G:A p.(Gly109Asp) NC_000023.11:65729570:G:A Identity +NM_001004334.4:c.4726G>A NP_001004334.3:p.Glu1576Lys NC_000017.11:38328842:C:T p.(Glu1576Lys) NC_000017.11:38328842:C:T p.(Glu1576Lys) NC_000017.11:38328842:C:T Identity +NM_001252043.2:c.2102C>T NP_001238972.1:p.Thr701Met NC_000016.10:29986373:C:T p.(Thr701Met) NC_000016.10:29986373:C:T p.(Thr701Met) NC_000016.10:29986373:C:T Identity +NM_001232.4:c.31A>T NP_001223.2:p.Ile11Phe NC_000001.11:115768510:T:A p.(Ile11Phe) NC_000001.11:115768510:T:A p.(Ile11Phe) NC_000001.11:115768510:T:A Identity +NM_001145853.1:c.1243G>C NP_001139325.1:p.Val415Leu NC_000004.12:6301037:G:C p.(Val415Leu) NC_000004.12:6301037:G:C p.(Val415Leu) NC_000004.12:6301037:G:C Identity +NM_004565.3:c.279C>A NP_004556.1:p.His93Gln NC_000001.11:10599346:C:A p.(His93Gln) NC_000001.11:10599346:C:A p.(His93Gln) NC_000001.11:10599346:C:A Identity +NM_001173425.2:c.901G>A NP_001166896.1:p.Gly301Ser NC_000009.12:114466328:C:T p.(Gly301Ser) NC_000009.12:114466328:C:T p.(Gly301Ser) NC_000009.12:114466328:C:T Identity +NM_001042594.2:c.1253ATG[1] NP_001036059.1:p.Asp419del NC_000007.14:124827248:CATCATCA:CATCA p.(Asp419del) NC_000007.14:124827253:T:CAT ERR:Parse ERR:Parse Identity +NM_001069.3:c.808T>C NP_001060.1:p.Phe270Leu NC_000006.12:3154392:A:G p.(Phe270Leu) NC_000006.12:3154392:A:G p.(Phe270Leu) NC_000006.12:3154392:A:G Identity +NM_000059.4:c.491T>C NP_000050.3:p.Leu164Ser NC_000013.11:32326256:T:C p.(Leu164Ser) NC_000013.11:32326256:T:C p.(Leu164Ser) NC_000013.11:32326256:T:C Identity +NM_080476.5:c.1244A>G NP_536724.1:p.Tyr415Cys NC_000020.11:34560929:T:C p.(Tyr415Cys) NC_000020.11:34560929:T:C p.(Tyr415Cys) NC_000020.11:34560929:T:C Identity +NM_080679.3:c.4087A>G NP_542410.2:p.Lys1363Glu NC_000006.12:33166190:T:C p.(Lys1363Glu) NC_000006.12:33166190:T:C p.(Lys1363Glu) NC_000006.12:33166190:T:C Identity +NM_014714.4:c.2859G>T NP_055529.2:p.Lys953Asn NC_000016.10:1525235:C:A p.(Lys953Asn) NC_000016.10:1525235:C:A p.(Lys953Asn) NC_000016.10:1525235:C:A Identity +LRG_1426t1:c.5873C>T LRG_1426p1:p.Ala1958Val NC_000016.10:3729173:G:A ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found ERR:AlignmentMapper(tx_ac=LRG_1426t1, alt_ac=LRG_1426t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1426t1, alt_ac=LRG_1426t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found +NM_001018115.3:c.2986A>G NP_001018125.1:p.Ser996Gly NC_000003.12:10081108:A:G p.(Ser996Gly) NC_000003.12:10081108:A:G p.(Ser996Gly) NC_000003.12:10081108:A:G Identity +NM_032861.4:c.1505T>G NP_116250.3:p.Leu502Arg NC_000006.12:158114967:A:C p.(Leu502Arg) NC_000006.12:158114967:A:C p.(Leu502Arg) NC_000006.12:158114967:A:C Identity +NM_001171653.2:c.28C>T NP_001165124.1:p.Pro10Ser NC_000002.12:144517322:G:A p.(Pro10Ser) NC_000002.12:144517322:G:A p.(Pro10Ser) NC_000002.12:144517322:G:A Identity +NM_001142929.2:c.487C>T NP_001136401.2:p.Arg163Trp NC_000010.11:49625560:C:T p.(Arg163Trp) NC_000010.11:49625560:C:T p.(Arg163Trp) NC_000010.11:49625560:C:T Identity +NM_001318245.2:c.4915C>T NP_001305174.1:p.Arg1639Trp NC_000022.11:25902700:C:T p.(Arg1639Trp) NC_000022.11:25902700:C:T p.(Arg1639Trp) NC_000022.11:25902700:C:T Identity +NM_001354044.2:c.170A>G NP_001340973.1:p.Lys57Arg NC_000002.12:63486552:T:C p.(Lys57Arg) NC_000002.12:63486552:T:C p.(Lys57Arg) NC_000002.12:63486552:T:C Identity +NM_030928.4:c.469G>A NP_112190.2:p.Gly157Ser NC_000016.10:88804878:G:A p.(Gly157Ser) NC_000016.10:88804878:G:A p.(Gly157Ser) NC_000016.10:88804878:G:A Identity +NM_006445.4:c.3118A>G NP_006436.3:p.Ile1040Val NC_000017.11:1674622:T:C p.(Ile1040Val) NC_000017.11:1674622:T:C p.(Ile1040Val) NC_000017.11:1674622:T:C Identity +NM_001371986.1:c.7574T>C NP_001358915.1:p.Leu2525Pro NC_000002.12:209959141:T:C p.(Leu2525Pro) NC_000002.12:209959141:T:C p.(Leu2525Pro) NC_000002.12:209959141:T:C Identity +NM_001165963.4:c.4474A>G NP_001159435.1:p.Lys1492Glu NC_000002.12:165998039:T:C p.(Lys1492Glu) NC_000002.12:165998039:T:C p.(Lys1492Glu) NC_000002.12:165998039:T:C Identity +NM_000836.4:c.973G>A NP_000827.2:p.Ala325Thr NC_000019.10:48405240:G:A p.(Ala325Thr) NC_000019.10:48405240:G:A p.(Ala325Thr) NC_000019.10:48405240:G:A Identity +NM_000379.4:c.3133A>G NP_000370.2:p.Thr1045Ala NC_000002.12:31348281:T:C p.(Thr1045Ala) NC_000002.12:31348281:T:C p.(Thr1045Ala) NC_000002.12:31348281:T:C Identity +NM_001379469.1:c.91C>A NP_001366398.1:p.Gln31Lys NC_000003.12:196708566:G:T p.(Gln31Lys) NC_000003.12:196708566:G:T p.(Gln31Lys) NC_000003.12:196708566:G:T Identity +NM_024642.5:c.1415_1416dup NP_078918.3:p.Gln473fs NC_000009.12:98844163:ACAC:ACACAC p.(Gln473ThrfsTer137) NC_000009.12:98844163:ACAC:ACACAC p.(Gln473ThrfsTer137) ERR:SPDI Analogous +NM_032119.4:c.11547_11550del NP_115495.3:p.Ile3849fs NC_000005.10:90755151:AAAA: p.(Ile3849MetfsTer28) NC_000005.10:90755151:AAAA: p.(Ile3849MetfsTer28) NC_000005.10:90755151:AAAA: Analogous +NM_172364.5:c.1909TTC[1] NP_758952.4:p.Phe638del NC_000012.12:1860170:GAAGAAG:GAAG p.(Phe638del) NC_000012.12:1860175:A:GAA ERR:Parse ERR:Parse Identity +NM_001104577.2:c.1181_1182insA NP_001098047.1:p.Ala395fs NC_000017.11:5033122::T p.(Ala395GlyfsTer105) NC_000017.11:5033121:C:T p.(Ala395GlyfsTer105) NC_000017.11:5033122:CA:T Analogous +NM_001146158.2:c.1643A>G NP_001139630.1:p.Asp548Gly NC_000002.12:74461827:T:C p.(Asp548Gly) NC_000002.12:74461827:T:C p.(Asp548Gly) NC_000002.12:74461827:T:C Identity +NM_000335.5:c.2974C>A NP_000326.2:p.Pro992Thr NC_000003.12:38581184:G:T p.(Pro992Thr) NC_000003.12:38581184:G:T p.(Pro992Thr) NC_000003.12:38581184:G:T Identity +NM_006903.4:c.191A>G NP_008834.3:p.His64Arg NC_000004.12:105456711:T:C p.(His64Arg) NC_000004.12:105456711:T:C p.(His64Arg) NC_000004.12:105456711:T:C Identity +NM_001032409.3:c.856T>C NP_001027581.1:p.Tyr286His NC_000012.12:112916709:T:C p.(Tyr286His) NC_000012.12:112916709:T:C p.(Tyr286His) NC_000012.12:112916709:T:C Identity +NM_000098.3:c.135C>G NP_000089.1:p.Tyr45Ter NC_000001.11:53197077:C:G p.(Tyr45Ter) NC_000001.11:53197077:C:G p.(Tyr45Ter) NC_000001.11:53197077:C:G Identity +NM_001100913.3:c.1079T>C NP_001094383.2:p.Leu360Pro NC_000014.9:105380107:T:C p.(Leu360Pro) NC_000014.9:105380107:T:C p.(Leu360Pro) NC_000014.9:105380107:T:C Identity +NM_080679.3:c.4630G>T NP_542410.2:p.Val1544Phe NC_000006.12:33164385:C:A p.(Val1544Phe) NC_000006.12:33164385:C:A p.(Val1544Phe) NC_000006.12:33164385:C:A Identity +NM_001177984.3:c.3136G>A NP_001171455.1:p.Ala1046Thr NC_000012.12:51769098:G:A p.(Ala1046Thr) NC_000012.12:51769098:G:A p.(Ala1046Thr) NC_000012.12:51769098:G:A Identity +NM_020461.4:c.503A>G NP_065194.3:p.Glu168Gly NC_000022.11:50243956:T:C p.(Glu168Gly) NC_000022.11:50243956:T:C p.(Glu168Gly) NC_000022.11:50243956:T:C Identity +NM_001302946.2:c.787A>T NP_001289875.2:p.Lys263Ter NC_000003.12:3147493:A:T p.(Lys263Ter) NC_000003.12:3147493:A:T p.(Lys263Ter) NC_000003.12:3147493:A:T Identity +NM_004329.3:c.1373A>T NP_004320.2:p.Tyr458Phe NC_000010.11:86923405:A:T p.(Tyr458Phe) NC_000010.11:86923405:A:T p.(Tyr458Phe) NC_000010.11:86923405:A:T Identity +NM_000428.3:c.2417C>T NP_000419.1:p.Ala806Val NC_000014.9:74526085:G:A p.(Ala806Val) NC_000014.9:74526085:G:A p.(Ala806Val) NC_000014.9:74526085:G:A Identity +NM_001032221.6:c.1370G>A NP_001027392.1:p.Arg457His NC_000009.12:127678440:G:A p.(Arg457His) NC_000009.12:127678440:G:A p.(Arg457His) NC_000009.12:127678440:G:A Identity +NM_000140.5:c.945del NP_000131.2:p.Asp316fs NC_000018.10:57554391:T: p.(Asp316ThrfsTer20) NC_000018.10:57554391:T: p.(Asp316ThrfsTer20) NC_000018.10:57554391:T: Analogous +NM_022168.4:c.284T>C NP_071451.2:p.Met95Thr NC_000002.12:162318023:A:G p.(Met95Thr) NC_000002.12:162318023:A:G p.(Met95Thr) NC_000002.12:162318023:A:G Identity +NM_004525.3:c.3724A>G NP_004516.2:p.Ile1242Val NC_000002.12:169241308:T:C p.(Ile1242Val) NC_000002.12:169241308:T:C p.(Ile1242Val) NC_000002.12:169241308:T:C Identity +NM_001378454.1:c.755C>T NP_001365383.1:p.Ala252Val NC_000002.12:73422964:C:T p.(Ala252Val) NC_000002.12:73422964:C:T p.(Ala252Val) NC_000002.12:73422964:C:T Identity +NM_000218.3:c.1886G>T NP_000209.2:p.Gly629Val NC_000011.10:2847857:G:T p.(Gly629Val) NC_000011.10:2847857:G:T p.(Gly629Val) NC_000011.10:2847857:G:T Identity +NM_000179.3:c.1233dup NP_000170.1:p.Lys412fs NC_000002.12:47799214:GG:GGG p.(Lys412GlufsTer6) NC_000002.12:47799214:GG:GGG p.(Lys412GlufsTer6) ERR:SPDI Analogous +NM_001039348.3:c.-3_13dup NP_001034437.1:p.Leu5fs NC_000002.12:55922427:GGGCTTTCAACATTGTG:GGGCTTTCAACATTGTGGGCTTTCAACATTGTG p.(Leu5HisfsTer32) NC_000002.12:55922427:GGGCTTTCAACATTGTG:GGGCTTTCAACATTGTGGGCTTTCAACATTGTG p.(Leu5HisfsTer32) ERR:SPDI Analogous +NM_001102564.3:c.592_594del NP_001096034.1:p.Lys198del NC_000014.9:76083539:AGAAG:AG p.(Lys198del) NC_000014.9:76083539:AGAAG:AG p.(Lys198del) NC_000014.9:76083541:AAG: Identity +NM_003737.4:c.6509G>A NP_003728.1:p.Arg2170His NC_000011.10:6626235:C:T p.(Arg2170His) NC_000011.10:6626235:C:T p.(Arg2170His) NC_000011.10:6626235:C:T Identity +NM_000541.5:c.107T>C NP_000532.2:p.Ile36Thr NC_000002.12:233316105:T:C p.(Ile36Thr) NC_000002.12:233316105:T:C p.(Ile36Thr) NC_000002.12:233316105:T:C Identity +NM_001165962.2:c.974C>T NP_001159434.1:p.Thr325Ile NC_000017.11:13002564:G:A p.(Thr325Ile) NC_000017.11:13002564:G:A p.(Thr325Ile) NC_000017.11:13002564:G:A Identity +NM_003849.4:c.337G>A NP_003840.2:p.Ala113Thr NC_000002.12:84441440:C:T p.(Ala113Thr) NC_000002.12:84441440:C:T p.(Ala113Thr) NC_000002.12:84441440:C:T Identity +NM_005055.5:c.178A>C NP_005046.2:p.Lys60Gln NC_000011.10:47448786:T:G p.(Lys60Gln) NC_000011.10:47448786:T:G p.(Lys60Gln) NC_000011.10:47448786:T:G Identity +NM_001110556.2:c.2281G>A NP_001104026.1:p.Val761Met NC_000023.11:154362783:C:T p.(Val761Met) NC_000023.11:154362783:C:T p.(Val761Met) NC_000023.11:154362783:C:T Identity +NM_001379141.1:c.2666G>A NP_001366070.1:p.Arg889Gln NC_000018.10:44952005:G:A p.(Arg889Gln) NC_000018.10:44952005:G:A p.(Arg889Gln) NC_000018.10:44952005:G:A Identity +NM_000038.6:c.4276dup NP_000029.2:p.Ser1426fs NC_000005.10:112839869:A:AA p.(Ser1426LysfsTer12) NC_000005.10:112839869:A:AA p.(Ser1426LysfsTer12) ERR:SPDI Analogous +NM_001365999.1:c.338C>T NP_001352928.1:p.Thr113Ile NC_000001.11:43404389:C:T p.(Thr113Ile) NC_000001.11:43404389:C:T p.(Thr113Ile) NC_000001.11:43404389:C:T Identity +NM_001256849.1:c.3301C>G NP_001243778.1:p.Pro1101Ala NC_000019.10:50417923:C:G p.(Pro1101Ala) NC_000019.10:50417923:C:G p.(Pro1101Ala) NC_000019.10:50417923:C:G Identity +NM_001046.3:c.1741C>T NP_001037.1:p.Pro581Ser NC_000005.10:128141948:C:T p.(Pro581Ser) NC_000005.10:128141948:C:T p.(Pro581Ser) NC_000005.10:128141948:C:T Identity +NM_016169.4:c.1350G>C NP_057253.2:p.Leu450Phe NC_000010.11:102627227:G:C p.(Leu450Phe) NC_000010.11:102627227:G:C p.(Leu450Phe) NC_000010.11:102627227:G:C Identity +NM_000031.6:c.407G>A NP_000022.3:p.Ser136Asn NC_000009.12:113390666:C:T p.(Ser136Asn) NC_000009.12:113390666:C:T p.(Ser136Asn) NC_000009.12:113390666:C:T Identity +NM_024675.4:c.2514G>T NP_078951.2:p.Gln838His NC_000016.10:23629639:C:A p.(Gln838His) NC_000016.10:23629639:C:A p.(Gln838His) NC_000016.10:23629639:C:A Identity +NM_001143779.2:c.1483T>A NP_001137251.1:p.Ser495Thr NC_000012.12:110192631:T:A p.(Ser495Thr) NC_000012.12:110192631:T:A p.(Ser495Thr) NC_000012.12:110192631:T:A Identity +NM_000159.4:c.193A>C NP_000150.1:p.Ile65Leu NC_000019.10:12891895:A:C p.(Ile65Leu) NC_000019.10:12891895:A:C p.(Ile65Leu) NC_000019.10:12891895:A:C Identity +NM_018848.3:c.302A>T NP_061336.1:p.Asn101Ile NC_000020.11:10413212:T:A p.(Asn101Ile) NC_000020.11:10413212:T:A p.(Asn101Ile) NC_000020.11:10413212:T:A Identity +NM_001128225.3:c.1043G>A NP_001121697.2:p.Arg348His NC_000011.10:47415289:G:A p.(Arg348His) NC_000011.10:47415289:G:A p.(Arg348His) NC_000011.10:47415289:G:A Identity +NM_006158.5:c.1315T>C NP_006149.2:p.Phe439Leu NC_000008.11:24953649:A:G p.(Phe439Leu) NC_000008.11:24953649:A:G p.(Phe439Leu) NC_000008.11:24953649:A:G Identity +NM_001301237.2:c.284A>G NP_001288166.1:p.Tyr95Cys NC_000001.11:40995947:A:G p.(Tyr95Cys) NC_000001.11:40995947:A:G p.(Tyr95Cys) NC_000001.11:40995947:A:G Identity +NM_001098512.3:c.1483C>T NP_001091982.1:p.Arg495Ter NC_000010.11:52280912:C:T p.(Arg495Ter) NC_000010.11:52280912:C:T p.(Arg495Ter) NC_000010.11:52280912:C:T Identity +NM_002299.4:c.3716C>T NP_002290.2:p.Ser1239Leu NC_000002.12:135808630:G:A p.(Ser1239Leu) NC_000002.12:135808630:G:A p.(Ser1239Leu) NC_000002.12:135808630:G:A Identity +NM_000138.5:c.4057G>C NP_000129.3:p.Gly1353Arg NC_000015.10:48474557:C:G p.(Gly1353Arg) NC_000015.10:48474557:C:G p.(Gly1353Arg) NC_000015.10:48474557:C:G Identity +NM_001170538.1:c.391C>T NP_001164009.1:p.Arg131Cys NC_000003.12:138103580:G:A p.(Arg131Cys) NC_000003.12:138103580:G:A p.(Arg131Cys) NC_000003.12:138103580:G:A Identity +NM_006231.4:c.827T>A NP_006222.2:p.Ile276Asn NC_000012.12:132676627:A:T p.(Ile276Asn) NC_000012.12:132676627:A:T p.(Ile276Asn) NC_000012.12:132676627:A:T Identity +NM_014141.6:c.2300T>C NP_054860.1:p.Val767Ala NC_000007.14:147977905:T:C p.(Val767Ala) NC_000007.14:147977905:T:C p.(Val767Ala) NC_000007.14:147977905:T:C Identity +NM_005458.8:c.428C>T NP_005449.5:p.Ala143Val NC_000009.12:98577965:G:A p.(Ala143Val) NC_000009.12:98577965:G:A p.(Ala143Val) NC_000009.12:98577965:G:A Identity +NM_001130455.2:c.3433T>C NP_001123927.1:p.Cys1145Arg NC_000002.12:71589673:T:C p.(Cys1145Arg) NC_000002.12:71589673:T:C p.(Cys1145Arg) NC_000002.12:71589673:T:C Identity +NM_001130144.3:c.1191C>A NP_001123616.1:p.Asp397Glu NC_000011.10:65552401:G:T p.(Asp397Glu) NC_000011.10:65552401:G:T p.(Asp397Glu) NC_000011.10:65552401:G:T Identity +NM_001193307.2:c.2024T>G NP_001180236.1:p.Phe675Cys NC_000007.14:93104073:A:C p.(Phe675Cys) NC_000007.14:93104073:A:C p.(Phe675Cys) NC_000007.14:93104073:A:C Identity +NM_015164.4:c.248T>C NP_055979.2:p.Leu83Pro NC_000001.11:15716786:T:C p.(Leu83Pro) NC_000001.11:15716786:T:C p.(Leu83Pro) NC_000001.11:15716786:T:C Identity +NM_002334.4:c.3020C>A NP_002325.2:p.Ala1007Asp NC_000011.10:46879022:G:T p.(Ala1007Asp) NC_000011.10:46879022:G:T p.(Ala1007Asp) NC_000011.10:46879022:G:T Identity +NM_001384378.1:c.1087C>G NP_001371307.1:p.Pro363Ala NC_000019.10:17776065:C:G p.(Pro363Ala) NC_000019.10:17776065:C:G p.(Pro363Ala) NC_000019.10:17776065:C:G Identity +NM_001271440.2:c.21G>A NP_001258369.1:p.Met7Ile NC_000021.9:44339173:C:T p.(Met7Ile) NC_000021.9:44339173:C:T p.(Met7Ile) NC_000021.9:44339173:C:T Identity +NM_000059.4:c.1878A>C NP_000050.3:p.Glu626Asp NC_000013.11:32333355:A:C p.(Glu626Asp) NC_000013.11:32333355:A:C p.(Glu626Asp) NC_000013.11:32333355:A:C Identity +NM_004373.4:c.3G>A NP_004364.2:p.Met1Ile NC_000012.12:120438128:G:A p.(Met1Ile) NC_000012.12:120438128:G:A p.Met1? NC_000012.12:120438128:G:A Identity +NM_001035.3:c.431C>G NP_001026.2:p.Ala144Gly NC_000001.11:237374762:C:G p.(Ala144Gly) NC_000001.11:237374762:C:G p.(Ala144Gly) NC_000001.11:237374762:C:G Identity +NM_000724.4:c.1553A>C NP_000715.2:p.Asp518Ala NC_000010.11:18539458:A:C p.(Asp518Ala) NC_000010.11:18539458:A:C p.(Asp518Ala) NC_000010.11:18539458:A:C Identity +NM_004629.2:c.336del NP_004620.1:p.Arg113fs NC_000009.12:35078314:GGG:GG p.(Arg113GlyfsTer39) NC_000009.12:35078314:GGG:GG p.(Arg113GlyfsTer39) NC_000009.12:35078314:G: Analogous +NM_001291902.2:c.343C>G NP_001278831.1:p.Leu115Val NC_000011.10:68406807:C:G p.(Leu115Val) NC_000011.10:68406807:C:G p.(Leu115Val) NC_000011.10:68406807:C:G Identity +NM_001136029.4:c.4685G>A NP_001129501.1:p.Arg1562Gln NC_000022.11:31906396:G:A p.(Arg1562Gln) NC_000022.11:31906396:G:A p.(Arg1562Gln) NC_000022.11:31906396:G:A Identity +NM_001256849.1:c.3116A>G NP_001243778.1:p.Lys1039Arg NC_000019.10:50417092:A:G p.(Lys1039Arg) NC_000019.10:50417092:A:G p.(Lys1039Arg) NC_000019.10:50417092:A:G Identity +NM_001306142.2:c.359C>G NP_001293071.1:p.Ala120Gly NC_000004.12:8871255:G:C p.(Ala120Gly) NC_000004.12:8871255:G:C p.(Ala120Gly) NC_000004.12:8871255:G:C Identity +NM_000187.4:c.1245del NP_000178.2:p.Ser416fs NC_000003.12:120628472:GG:G p.(Ser416ProfsTer38) NC_000003.12:120628472:GG:G p.(Ser416ProfsTer38) NC_000003.12:120628472:G: Analogous +NM_031942.5:c.734del NP_114148.3:p.Gly245fs NC_000002.12:173364826:GGG:GG p.(Gly245ValfsTer43) NC_000002.12:173364826:GGG:GG p.(Gly245ValfsTer43) NC_000002.12:173364828:G: Analogous +NM_014391.3:c.470T>G NP_055206.2:p.Leu157Arg NC_000010.11:90917813:A:C p.(Leu157Arg) NC_000010.11:90917813:A:C p.(Leu157Arg) NC_000010.11:90917813:A:C Identity +NM_006269.2:c.5798G>A NP_006260.1:p.Arg1933Gln NC_000008.11:54629679:G:A p.(Arg1933Gln) NC_000008.11:54629679:G:A p.(Arg1933Gln) NC_000008.11:54629679:G:A Identity +NM_001178133.2:c.53_59del NP_001171604.1:p.Pro18fs NC_000010.11:102504199:GGCCCCTGGCCC:GGCCC p.(Pro18ArgfsTer76) NC_000010.11:102504199:GGCCCCTGGCCC:GGCCC p.(Pro18ArgfsTer76) NC_000010.11:102504204:CTGGCCC: Analogous +NM_031935.3:c.4728G>A NP_114141.2:p.Met1576Ile NC_000001.11:186015255:G:A p.(Met1576Ile) NC_000001.11:186015255:G:A p.(Met1576Ile) NC_000001.11:186015255:G:A Identity +NM_024675.4:c.2143G>A NP_078951.2:p.Asp715Asn NC_000016.10:23630010:C:T p.(Asp715Asn) NC_000016.10:23630010:C:T p.(Asp715Asn) NC_000016.10:23630010:C:T Identity +NM_000515.5:c.426C>G NP_000506.2:p.Asp142Glu NC_000017.11:63917789:G:C p.(Asp142Glu) NC_000017.11:63917789:G:C p.(Asp142Glu) NC_000017.11:63917789:G:C Identity +NM_032119.4:c.17888C>G NP_115495.3:p.Pro5963Arg NC_000005.10:90965445:C:G p.(Pro5963Arg) NC_000005.10:90965445:C:G p.(Pro5963Arg) NC_000005.10:90965445:C:G Identity +NM_000445.5:c.9157A>G NP_000436.2:p.Ile3053Val NC_000008.11:143920744:T:C p.(Ile3053Val) NC_000008.11:143920744:T:C p.(Ile3053Val) NC_000008.11:143920744:T:C Identity +NM_001277126.2:c.2005A>G NP_001264055.1:p.Thr669Ala NC_000019.10:53809653:T:C p.(Thr669Ala) NC_000019.10:53809653:T:C p.(Thr669Ala) NC_000019.10:53809653:T:C Identity +NM_005751.5:c.464C>T NP_005742.4:p.Thr155Ile NC_000007.14:91992942:C:T p.(Thr155Ile) NC_000007.14:91992942:C:T p.(Thr155Ile) NC_000007.14:91992942:C:T Identity +NM_000254.3:c.1251G>T NP_000245.2:p.Met417Ile NC_000001.11:236835608:G:T p.(Met417Ile) NC_000001.11:236835608:G:T p.(Met417Ile) NC_000001.11:236835608:G:T Identity +NM_002292.4:c.2711A>G NP_002283.3:p.His904Arg NC_000003.12:49125261:T:C p.(His904Arg) NC_000003.12:49125261:T:C p.(His904Arg) NC_000003.12:49125261:T:C Identity +NM_024753.5:c.3144del NP_079029.3:p.Ala1049fs NC_000002.12:165890597:TTT:TT p.(Ala1049LeufsTer15) NC_000002.12:165890597:TTT:TT p.(Ala1049LeufsTer15) NC_000002.12:165890597:T: Analogous +NM_001256849.1:c.1858A>G NP_001243778.1:p.Thr620Ala NC_000019.10:50408866:A:G p.(Thr620Ala) NC_000019.10:50408866:A:G p.(Thr620Ala) NC_000019.10:50408866:A:G Identity +NM_021798.4:c.27G>T NP_068570.1:p.Leu9Phe NC_000016.10:27430097:G:T p.(Leu9Phe) NC_000016.10:27430097:G:T p.(Leu9Phe) NC_000016.10:27430097:G:T Identity +NM_006903.4:c.844G>A NP_008834.3:p.Val282Ile NC_000004.12:105386574:C:T p.(Val282Ile) NC_000004.12:105386574:C:T p.(Val282Ile) NC_000004.12:105386574:C:T Identity +NM_001195622.2:c.2198A>G NP_001182551.1:p.Tyr733Cys NC_000009.12:32542131:T:C p.(Tyr733Cys) NC_000009.12:32542131:T:C p.(Tyr733Cys) NC_000009.12:32542131:T:C Identity +NM_000328.3:c.680A>G NP_000319.1:p.Gln227Arg NC_000023.11:38310712:T:C p.(Gln227Arg) NC_000023.11:38310712:T:C p.(Gln227Arg) NC_000023.11:38310712:T:C Identity +NM_001130518.2:c.701_702inv NP_001123990.1:p.His234Arg NC_000008.11:19458574:GT:AC p.(His234Arg) NC_000008.11:19458574:GT:AC p.(His234Arg) ERR:SPDI Identity +NM_001256849.1:c.929T>C NP_001243778.1:p.Leu310Ser NC_000019.10:50402699:T:C p.(Leu310Ser) NC_000019.10:50402699:T:C p.(Leu310Ser) NC_000019.10:50402699:T:C Identity +NM_001301031.1:c.2001C>G NP_001287960.1:p.Ile667Met NC_000015.10:65639650:C:G p.(Ile667Met) NC_000015.10:65639650:C:G p.(Ile667Met) NC_000015.10:65639650:C:G Identity +NM_001131005.2:c.440T>C NP_001124477.1:p.Val147Ala NC_000005.10:88751999:A:G p.(Val147Ala) NC_000005.10:88751999:A:G p.(Val147Ala) NC_000005.10:88751999:A:G Identity +NM_001318511.2:c.77G>A NP_001305440.1:p.Gly26Glu NC_000018.10:79680023:G:A p.(Gly26Glu) NC_000018.10:79680023:G:A p.(Gly26Glu) NC_000018.10:79680023:G:A Identity +NM_032444.4:c.788A>C NP_115820.2:p.Glu263Ala NC_000016.10:3602279:T:G p.(Glu263Ala) NC_000016.10:3602279:T:G p.(Glu263Ala) NC_000016.10:3602279:T:G Identity +NM_001160372.4:c.3094G>A NP_001153844.1:p.Val1032Met NC_000008.11:139732163:C:T p.(Val1032Met) NC_000008.11:139732163:C:T p.(Val1032Met) NC_000008.11:139732163:C:T Identity +NM_001261406.2:c.4517G>A NP_001248335.1:p.Gly1506Asp NC_000009.12:13126531:C:T p.(Gly1506Asp) NC_000009.12:13126531:C:T p.(Gly1506Asp) NC_000009.12:13126531:C:T Identity +NM_001032282.4:c.574G>T NP_001027453.1:p.Ala192Ser NC_000008.11:102651724:C:A p.(Ala192Ser) NC_000008.11:102651724:C:A p.(Ala192Ser) NC_000008.11:102651724:C:A Identity +NM_001127244.2:c.2030dup NP_001120716.1:p.Thr679fs NC_000009.12:128909193:T:TT p.(Thr679HisfsTer128) NC_000009.12:128909193:T:TT p.(Thr679HisfsTer128) ERR:SPDI Analogous +NM_001303496.3:c.3131G>A NP_001290425.1:p.Arg1044His NC_000007.14:93132840:C:T p.(Arg1044His) NC_000007.14:93132840:C:T p.(Arg1044His) NC_000007.14:93132840:C:T Identity +NM_001164674.2:c.821G>A NP_001158146.1:p.Trp274Ter NC_000003.12:4410922:C:T p.(Trp274Ter) NC_000003.12:4410922:C:T p.(Trp274Ter) NC_000003.12:4410922:C:T Identity +NM_001252127.2:c.953C>T NP_001239056.1:p.Thr318Ile NC_000015.10:50948020:C:T p.(Thr318Ile) NC_000015.10:50948020:C:T p.(Thr318Ile) NC_000015.10:50948020:C:T Identity +NM_001142800.2:c.7823A>G NP_001136272.1:p.Gln2608Arg NC_000006.12:63778080:T:C p.(Gln2608Arg) NC_000006.12:63778080:T:C p.(Gln2608Arg) NC_000006.12:63778080:T:C Identity +NM_001165962.2:c.2272_2273delinsTT NP_001159434.1:p.Glu758Leu NC_000017.11:12992905:TC:AA p.(Glu758Leu) NC_000017.11:12992905:TC:AA p.(Glu758Leu) NC_000017.11:12992905:TC:AA Identity +NM_004260.4:c.343G>A NP_004251.4:p.Gly115Ser NC_000008.11:144517060:C:T p.(Gly115Ser) NC_000008.11:144517060:C:T p.(Gly115Ser) NC_000008.11:144517060:C:T Identity +NM_001123066.4:c.60G>C NP_001116538.2:p.Leu20Phe NC_000017.11:45962396:G:C p.(Leu20Phe) NC_000017.11:45962396:G:C p.(Leu20Phe) NC_000017.11:45962396:G:C Identity +NM_001041.4:c.77C>A NP_001032.2:p.Ala26Asp NC_000003.12:165075935:G:T p.(Ala26Asp) NC_000003.12:165075935:G:T p.(Ala26Asp) NC_000003.12:165075935:G:T Identity +NM_005257.6:c.592C>A NP_005248.2:p.Leu198Met NC_000018.10:22171735:C:A p.(Leu198Met) NC_000018.10:22171735:C:A p.(Leu198Met) NC_000018.10:22171735:C:A Identity +NM_014714.4:c.316A>G NP_055529.2:p.Ile106Val NC_000016.10:1602422:T:C p.(Ile106Val) NC_000016.10:1602422:T:C p.(Ile106Val) NC_000016.10:1602422:T:C Identity +NM_006269.2:c.5402C>T NP_006260.1:p.Ser1801Phe NC_000008.11:54629283:C:T p.(Ser1801Phe) NC_000008.11:54629283:C:T p.(Ser1801Phe) NC_000008.11:54629283:C:T Identity +NM_000486.6:c.106C>T NP_000477.1:p.Gln36Ter NC_000012.12:49950935:C:T p.(Gln36Ter) NC_000012.12:49950935:C:T p.(Gln36Ter) NC_000012.12:49950935:C:T Identity +NM_000065.5:c.1219C>T NP_000056.2:p.Arg407Cys NC_000005.10:41172296:G:A p.(Arg407Cys) NC_000005.10:41172296:G:A p.(Arg407Cys) NC_000005.10:41172296:G:A Identity +NM_000663.5:c.1333C>T NP_000654.2:p.Pro445Ser NC_000016.10:8779541:C:T p.(Pro445Ser) NC_000016.10:8779541:C:T p.(Pro445Ser) NC_000016.10:8779541:C:T Identity +NM_002470.4:c.238A>G NP_002461.2:p.Met80Val NC_000017.11:10652529:T:C p.(Met80Val) NC_000017.11:10652529:T:C p.(Met80Val) NC_000017.11:10652529:T:C Identity +NM_001144769.5:c.14619C>A NP_001138241.1:p.Asn4873Lys NC_000006.12:56487174:G:T p.(Asn4873Lys) NC_000006.12:56487174:G:T p.(Asn4873Lys) NC_000006.12:56487174:G:T Identity +NM_001256876.3:c.3741A>G NP_001243805.1:p.Ile1247Met NC_000009.12:742248:A:G p.(Ile1247Met) NC_000009.12:742248:A:G p.(Ile1247Met) NC_000009.12:742248:A:G Identity +NM_004260.4:c.1896G>A NP_004251.4:p.Met632Ile NC_000008.11:144514089:C:T p.(Met632Ile) NC_000008.11:144514089:C:T p.(Met632Ile) NC_000008.11:144514089:C:T Identity +NM_001199835.1:c.194A>G NP_001186764.1:p.Gln65Arg NC_000007.14:26364616:A:G p.(Gln65Arg) NC_000007.14:26364616:A:G p.(Gln65Arg) NC_000007.14:26364616:A:G Identity +NM_001853.4:c.395C>T NP_001844.3:p.Pro132Leu NC_000020.11:62821781:C:T p.(Pro132Leu) NC_000020.11:62821781:C:T p.(Pro132Leu) NC_000020.11:62821781:C:T Identity +NM_000203.5:c.1167del NP_000194.2:p.Met390fs NC_000004.12:1002461:CC:C p.(Met390TrpfsTer50) NC_000004.12:1002461:CC:C p.(Met390TrpfsTer50) NC_000004.12:1002462:C: Analogous +NM_194318.4:c.856A>G NP_919299.3:p.Ile286Val NC_000013.11:31284652:A:G p.(Ile286Val) NC_000013.11:31284652:A:G p.(Ile286Val) NC_000013.11:31284652:A:G Identity +NM_020436.5:c.1496C>T NP_065169.1:p.Thr499Met NC_000020.11:51790986:G:A p.(Thr499Met) NC_000020.11:51790986:G:A p.(Thr499Met) NC_000020.11:51790986:G:A Identity +NM_001310332.2:c.937C>T NP_001297261.1:p.Arg313Cys NC_000014.9:24150789:C:T p.(Arg313Cys) NC_000014.9:24150789:C:T p.(Arg313Cys) NC_000014.9:24150789:C:T Identity +NM_001193414.2:c.980A>G NP_001180343.1:p.His327Arg NC_000022.11:18130963:A:G p.(His327Arg) NC_000022.11:18130963:A:G p.(His327Arg) NC_000022.11:18130963:A:G Identity +NM_000065.5:c.828dup NP_000056.2:p.Ser277fs NC_000005.10:41181457:CCCCCCC:CCCCCCCC p.(Ser277GlufsTer15) NC_000005.10:41181457:CCCCCCC:CCCCCCCC p.(Ser277GlufsTer15) ERR:SPDI Analogous +NM_001371986.1:c.9460C>T NP_001358915.1:p.Arg3154Trp NC_000002.12:209993377:C:T p.(Arg3154Trp) NC_000002.12:209993377:C:T p.(Arg3154Trp) NC_000002.12:209993377:C:T Identity +NM_001145770.3:c.1486C>T NP_001139242.1:p.Arg496Ter NC_000016.10:57659611:C:T p.(Arg496Ter) NC_000016.10:57659611:C:T p.(Arg496Ter) NC_000016.10:57659611:C:T Identity +NM_001024688.3:c.147_154del NP_001019859.1:p.Ile50fs NC_000008.11:89980813:GCAATATAGC:GC p.(Ile50ThrfsTer26) NC_000008.11:89980813:GCAATATAGC:GC p.(Ile50ThrfsTer26) NC_000008.11:89980813:GCAATATA: Analogous +NM_015180.6:c.1498T>A NP_055995.4:p.Ser500Thr NC_000014.9:63978942:T:A p.(Ser500Thr) NC_000014.9:63978942:T:A p.(Ser500Thr) NC_000014.9:63978942:T:A Identity +NM_030928.4:c.1448T>C NP_112190.2:p.Val483Ala NC_000016.10:88807452:T:C p.(Val483Ala) NC_000016.10:88807452:T:C p.(Val483Ala) NC_000016.10:88807452:T:C Identity +NM_017890.5:c.7222_7224del NP_060360.3:p.Leu2408del NC_000008.11:99766868:GTTG:G p.(Leu2408del) NC_000008.11:99766868:GTTG:G p.(Leu2408del) NC_000008.11:99766869:TTG: Identity +NM_015909.4:c.3913C>T NP_056993.2:p.Gln1305Ter NC_000002.12:15356320:G:A p.(Gln1305Ter) NC_000002.12:15356320:G:A p.(Gln1305Ter) NC_000002.12:15356320:G:A Identity +NM_005559.4:c.7748C>T NP_005550.2:p.Ala2583Val NC_000018.10:6959370:G:A p.(Ala2583Val) NC_000018.10:6959370:G:A p.(Ala2583Val) NC_000018.10:6959370:G:A Identity +NM_001024688.3:c.1981C>A NP_001019859.1:p.Leu661Ile NC_000008.11:89937032:G:T p.(Leu661Ile) NC_000008.11:89937032:G:T p.(Leu661Ile) NC_000008.11:89937032:G:T Identity +NM_001277269.2:c.2066C>T NP_001264198.1:p.Pro689Leu NC_000011.10:17572153:C:T p.(Pro689Leu) NC_000011.10:17572153:C:T p.(Pro689Leu) NC_000011.10:17572153:C:T Identity +NM_000036.3:c.1708C>T NP_000027.3:p.Arg570Ter NC_000001.11:114674843:G:A p.(Arg570Ter) NC_000001.11:114674843:G:A p.(Arg570Ter) NC_000001.11:114674843:G:A Identity +NM_000428.3:c.2884A>G NP_000419.1:p.Met962Val NC_000014.9:74516845:T:C p.(Met962Val) NC_000014.9:74516845:T:C p.(Met962Val) NC_000014.9:74516845:T:C Identity +NM_004863.4:c.1355G>A NP_004854.1:p.Arg452His NC_000014.9:77521529:C:T p.(Arg452His) NC_000014.9:77521529:C:T p.(Arg452His) NC_000014.9:77521529:C:T Identity +NM_001199642.1:c.757C>T NP_001186571.1:p.Arg253Cys NC_000003.12:123327757:G:A p.(Arg253Cys) NC_000003.12:123327757:G:A p.(Arg253Cys) NC_000003.12:123327757:G:A Identity +NM_001160227.2:c.1435C>A NP_001153699.1:p.Gln479Lys NC_000015.10:44651511:G:T p.(Gln479Lys) NC_000015.10:44651511:G:T p.(Gln479Lys) NC_000015.10:44651511:G:T Identity +NM_004525.3:c.8195T>C NP_004516.2:p.Met2732Thr NC_000002.12:169202769:A:G p.(Met2732Thr) NC_000002.12:169202769:A:G p.(Met2732Thr) NC_000002.12:169202769:A:G Identity +NM_017890.5:c.3584C>T NP_060360.3:p.Thr1195Met NC_000008.11:99467551:C:T p.(Thr1195Met) NC_000008.11:99467551:C:T p.(Thr1195Met) NC_000008.11:99467551:C:T Identity +NM_001378477.3:c.82G>A NP_001365406.2:p.Ala28Thr NC_000023.11:41473549:G:A p.(Ala28Thr) NC_000023.11:41473549:G:A p.(Ala28Thr) NC_000023.11:41473549:G:A Identity +NM_001134774.2:c.1022G>A NP_001128246.1:p.Arg341Gln NC_000011.10:66265058:G:A p.(Arg341Gln) NC_000011.10:66265058:G:A p.(Arg341Gln) NC_000011.10:66265058:G:A Identity +NM_145691.4:c.635C>T NP_663729.1:p.Ala212Val NC_000017.11:18021219:G:A p.(Ala212Val) NC_000017.11:18021219:G:A p.(Ala212Val) NC_000017.11:18021219:G:A Identity +NM_001282167.2:c.353G>A NP_001269096.1:p.Trp118Ter NC_000023.11:48512598:G:A p.(Trp118Ter) NC_000023.11:48512598:G:A p.(Trp118Ter) NC_000023.11:48512598:G:A Identity +NM_000944.5:c.1148G>T NP_000935.1:p.Gly383Val NC_000004.12:101061094:C:A p.(Gly383Val) NC_000004.12:101061094:C:A p.(Gly383Val) NC_000004.12:101061094:C:A Identity +NM_001315529.2:c.4996C>T NP_001302458.1:p.Arg1666Cys NC_000021.9:46411422:C:T p.(Arg1666Cys) NC_000021.9:46411422:C:T p.(Arg1666Cys) NC_000021.9:46411422:C:T Identity +NM_000018.4:c.977T>A NP_000009.1:p.Val326Asp NC_000017.11:7222764:T:A p.(Val326Asp) NC_000017.11:7222764:T:A p.(Val326Asp) NC_000017.11:7222764:T:A Identity +NM_001363813.1:c.74C>T NP_001350742.1:p.Pro25Leu NC_000017.11:65558546:G:A p.(Pro25Leu) NC_000017.11:65558546:G:A p.(Pro25Leu) NC_000017.11:65558546:G:A Identity +NM_001271620.2:c.1876A>C NP_001258549.1:p.Met626Leu NC_000016.10:49637095:T:G p.(Met626Leu) NC_000016.10:49637095:T:G p.(Met626Leu) NC_000016.10:49637095:T:G Identity +NM_001291285.3:c.11966A>C NP_001278214.1:p.Glu3989Ala NC_000004.12:125468571:A:C p.(Glu3989Ala) NC_000004.12:125468571:A:C p.(Glu3989Ala) NC_000004.12:125468571:A:C Identity +NM_001018113.3:c.1736C>T NP_001018123.1:p.Thr579Ile NC_000023.11:14845046:G:A p.(Thr579Ile) NC_000023.11:14845046:G:A p.(Thr579Ile) NC_000023.11:14845046:G:A Identity +NM_001206846.2:c.1469G>A NP_001193775.1:p.Arg490His NC_000001.11:197142782:C:T p.(Arg490His) NC_000001.11:197142782:C:T p.(Arg490His) NC_000001.11:197142782:C:T Identity +NM_005993.5:c.2582C>T NP_005984.3:p.Thr861Met NC_000017.11:82927295:C:T p.(Thr861Met) NC_000017.11:82927295:C:T p.(Thr861Met) NC_000017.11:82927295:C:T Identity +NM_001283050.2:c.158A>G NP_001269979.1:p.Tyr53Cys NC_000021.9:44237114:T:C p.(Tyr53Cys) NC_000021.9:44237114:T:C p.(Tyr53Cys) NC_000021.9:44237114:T:C Identity +NM_001318520.2:c.2907G>C NP_001305449.1:p.Leu969Phe NC_000018.10:70030879:C:G p.(Leu969Phe) NC_000018.10:70030879:C:G p.(Leu969Phe) NC_000018.10:70030879:C:G Identity +NM_001271999.2:c.2392C>G NP_001258928.1:p.Leu798Val NC_000001.11:62559027:G:C p.(Leu798Val) NC_000001.11:62559027:G:C p.(Leu798Val) NC_000001.11:62559027:G:C Identity +NM_005373.3:c.1183A>G NP_005364.1:p.Asn395Asp NC_000001.11:43346808:A:G p.(Asn395Asp) NC_000001.11:43346808:A:G p.(Asn395Asp) NC_000001.11:43346808:A:G Identity +NM_001347827.2:c.1191A>C NP_001334756.1:p.Gln397His NC_000004.12:54270701:A:C p.(Gln397His) NC_000004.12:54270701:A:C p.(Gln397His) NC_000004.12:54270701:A:C Identity +NM_000069.3:c.2708G>C NP_000060.2:p.Arg903Pro NC_000001.11:201066265:C:G p.(Arg903Pro) NC_000001.11:201066265:C:G p.(Arg903Pro) NC_000001.11:201066265:C:G Identity +NM_000096.4:c.2782T>A NP_000087.2:p.Ser928Thr NC_000003.12:149178510:A:T p.(Ser928Thr) NC_000003.12:149178510:A:T p.(Ser928Thr) NC_000003.12:149178510:A:T Identity +NM_015909.4:c.4733A>G NP_056993.2:p.Tyr1578Cys NC_000002.12:15308279:T:C p.(Tyr1578Cys) NC_000002.12:15308279:T:C p.(Tyr1578Cys) NC_000002.12:15308279:T:C Identity +NM_002299.4:c.919G>A NP_002290.2:p.Asp307Asn NC_000002.12:135822086:C:T p.(Asp307Asn) NC_000002.12:135822086:C:T p.(Asp307Asn) NC_000002.12:135822086:C:T Identity +NM_000426.4:c.9222G>C NP_000417.3:p.Lys3074Asn NC_000006.12:129516199:G:C p.(Lys3074Asn) NC_000006.12:129516199:G:C p.(Lys3074Asn) NC_000006.12:129516199:G:C Identity +NM_012318.3:c.289G>A NP_036450.1:p.Ala97Thr NC_000004.12:1841651:C:T p.(Ala97Thr) NC_000004.12:1841651:C:T p.(Ala97Thr) NC_000004.12:1841651:C:T Identity +NM_000368.5:c.3448C>T NP_000359.1:p.Gln1150Ter NC_000009.12:132896281:G:A p.(Gln1150Ter) NC_000009.12:132896281:G:A p.(Gln1150Ter) NC_000009.12:132896281:G:A Identity +NM_001232.4:c.128A>G NP_001223.2:p.Lys43Arg NC_000001.11:115768413:T:C p.(Lys43Arg) NC_000001.11:115768413:T:C p.(Lys43Arg) NC_000001.11:115768413:T:C Identity +NM_004525.3:c.3650C>T NP_004516.2:p.Ser1217Leu NC_000002.12:169242972:G:A p.(Ser1217Leu) NC_000002.12:169242972:G:A p.(Ser1217Leu) NC_000002.12:169242972:G:A Identity +NM_001243645.2:c.416A>G NP_001230574.1:p.Asn139Ser NC_000014.9:34712898:T:C p.(Asn139Ser) NC_000014.9:34712898:T:C p.(Asn139Ser) NC_000014.9:34712898:T:C Identity +NM_001005407.2:c.1607C>T NP_001005407.1:p.Pro536Leu NC_000016.10:1202056:C:T p.(Pro536Leu) NC_000016.10:1202056:C:T p.(Pro536Leu) NC_000016.10:1202056:C:T Identity +NM_020451.3:c.715C>T NP_065184.2:p.Arg239Cys NC_000001.11:25808756:C:T p.(Arg239Cys) NC_000001.11:25808756:C:T p.? NC_000001.11:25808756:C:T Identity +NM_032888.4:c.323G>A NP_116277.2:p.Arg108Gln NC_000009.12:114167877:G:A p.(Arg108Gln) NC_000009.12:114167877:G:A p.(Arg108Gln) NC_000009.12:114167877:G:A Identity +NM_006129.5:c.2189G>T NP_006120.1:p.Arg730Leu NC_000008.11:22201883:G:T p.(Arg730Leu) NC_000008.11:22201883:G:T p.(Arg730Leu) NC_000008.11:22201883:G:T Identity +NM_000138.5:c.6371C>G NP_000129.3:p.Ser2124Ter NC_000015.10:48437329:G:C p.(Ser2124Ter) NC_000015.10:48437329:G:C p.(Ser2124Ter) NC_000015.10:48437329:G:C Identity +NM_001244189.2:c.888C>G NP_001231118.1:p.His296Gln NC_000014.9:58444096:C:G p.(His296Gln) NC_000014.9:58444096:C:G p.(His296Gln) NC_000014.9:58444096:C:G Identity +NM_001204182.2:c.1015A>T NP_001191111.1:p.Arg339Ter NC_000001.11:211667201:T:A p.(Arg339Ter) NC_000001.11:211667201:T:A p.(Arg339Ter) NC_000001.11:211667201:T:A Identity +NM_001382235.1:c.443C>A NP_001369164.1:p.Ala148Glu NC_000020.11:63445308:G:T p.(Ala148Glu) NC_000020.11:63445308:G:T p.(Ala148Glu) NC_000020.11:63445308:G:T Identity +NM_001135040.3:c.3247C>G NP_001128512.1:p.Gln1083Glu NC_000002.12:74363316:G:C p.(Gln1083Glu) NC_000002.12:74363316:G:C p.(Gln1083Glu) NC_000002.12:74363316:G:C Identity +NM_003265.3:c.2687C>T NP_003256.1:p.Ala896Val NC_000004.12:186084844:C:T p.(Ala896Val) NC_000004.12:186084844:C:T p.(Ala896Val) NC_000004.12:186084844:C:T Identity +NM_000544.3:c.1A>C NP_000535.3:p.Met1Leu NC_000006.12:32838232:T:G p.(Met1Leu) NT_167244.2:4143098:T:G p.Met1? NC_000006.12:4143098:G:G Identity +NM_003038.5:c.656A>C NP_003029.2:p.Glu219Ala NC_000002.12:65010618:A:C p.(Glu219Ala) NC_000002.12:65010618:A:C p.(Glu219Ala) NC_000002.12:65010618:A:C Identity +NM_001145293.2:c.1497G>A NP_001138765.1:p.Trp499Ter NC_000003.12:25729192:C:T p.(Trp499Ter) NC_000003.12:25729192:C:T p.(Trp499Ter) NC_000003.12:25729192:C:T Identity +NM_001302946.2:c.64C>T NP_001289875.2:p.Leu22Phe NC_000003.12:3129103:C:T p.(Leu22Phe) NC_000003.12:3129103:C:T p.(Leu22Phe) NC_000003.12:3129103:C:T Identity +NM_004281.4:c.1121C>T NP_004272.2:p.Pro374Leu NC_000010.11:119676674:C:T p.(Pro374Leu) NC_000010.11:119676674:C:T p.(Pro374Leu) NC_000010.11:119676674:C:T Identity +NM_000744.7:c.1825G>T NP_000735.1:p.Val609Phe NC_000020.11:63346796:C:A p.(Val609Phe) NC_000020.11:63346796:C:A p.(Val609Phe) NC_000020.11:63346796:C:A Identity +NM_001195573.1:c.2189A>G NP_001182502.1:p.Asp730Gly NC_000014.9:95111383:T:C p.(Asp730Gly) NC_000014.9:95111383:T:C p.(Asp730Gly) NC_000014.9:95111383:T:C Identity +NM_002439.5:c.1801C>A NP_002430.3:p.Leu601Ile NC_000005.10:80761582:C:A p.(Leu601Ile) NC_000005.10:80761582:C:A p.(Leu601Ile) NC_000005.10:80761582:C:A Identity +NM_002872.5:c.517A>C NP_002863.1:p.Ile173Leu NC_000022.11:37226734:T:G p.(Ile173Leu) NC_000022.11:37226734:T:G p.(Ile173Leu) NC_000022.11:37226734:T:G Identity +NM_002471.4:c.3562G>A NP_002462.2:p.Glu1188Lys NC_000014.9:23390226:C:T p.(Glu1188Lys) NC_000014.9:23390226:C:T p.(Glu1188Lys) NC_000014.9:23390226:C:T Identity +NM_001363734.1:c.3091G>A NP_001350663.1:p.Val1031Met NC_000020.11:32435985:G:A p.(Val1031Met) NC_000020.11:32435985:G:A p.(Val1031Met) NC_000020.11:32435985:G:A Identity +NM_001330588.2:c.1684T>A NP_001317517.1:p.Ser562Thr NC_000013.11:102637086:T:A p.(Ser562Thr) NC_000013.11:102637086:T:A p.(Ser562Thr) NC_000013.11:102637086:T:A Identity +NM_001172435.2:c.838C>T NP_001165906.1:p.His280Tyr NC_000002.12:135126187:C:T p.(His280Tyr) NC_000002.12:135126187:C:T p.(His280Tyr) NC_000002.12:135126187:C:T Identity +NM_018136.5:c.6136G>A NP_060606.3:p.Ala2046Thr NC_000001.11:197103114:C:T p.(Ala2046Thr) NC_000001.11:197103114:C:T p.(Ala2046Thr) NC_000001.11:197103114:C:T Identity +NM_001166108.2:c.2803G>A NP_001159580.1:p.Gly935Arg NC_000004.12:168915979:G:A p.(Gly935Arg) NC_000004.12:168915979:G:A p.(Gly935Arg) NC_000004.12:168915979:G:A Identity +NM_000553.6:c.4243A>G NP_000544.2:p.Ser1415Gly NC_000008.11:31173045:A:G p.(Ser1415Gly) NC_000008.11:31173045:A:G p.(Ser1415Gly) NC_000008.11:31173045:A:G Identity +NM_001127487.2:c.3308G>A NP_001120959.1:p.Cys1103Tyr NC_000007.14:128844772:G:A p.(Cys1103Tyr) NC_000007.14:128844772:G:A p.(Cys1103Tyr) NC_000007.14:128844772:G:A Identity +NM_022168.4:c.58G>A NP_071451.2:p.Ala20Thr NC_000002.12:162318249:C:T p.(Ala20Thr) NC_000002.12:162318249:C:T p.(Ala20Thr) NC_000002.12:162318249:C:T Identity +NM_003482.4:c.2816T>G NP_003473.3:p.Leu939Arg NC_000012.12:49050771:A:C p.(Leu939Arg) NC_000012.12:49050771:A:C p.(Leu939Arg) NC_000012.12:49050771:A:C Identity +NM_000553.6:c.1699_1701del NP_000544.2:p.Asn567del NC_000008.11:31090508:ATAAT:AT p.(Asn567del) NC_000008.11:31090508:ATAAT:AT p.(Asn567del) NC_000008.11:31090510:AAT: Identity +NM_000109.4:c.10442G>A NP_000100.3:p.Arg3481His NC_000023.11:31169529:C:T p.(Arg3481His) NC_000023.11:31169529:C:T p.(Arg3481His) NC_000023.11:31169529:C:T Identity +NM_001308093.3:c.1155C>G NP_001295022.1:p.Phe385Leu NC_000008.11:11758297:C:G p.(Phe385Leu) NC_000008.11:11758297:C:G p.(Phe385Leu) NC_000008.11:11758297:C:G Identity +NM_000587.4:c.149G>A NP_000578.2:p.Arg50Gln NC_000005.10:40934334:G:A p.(Arg50Gln) NC_000005.10:40934334:G:A p.(Arg50Gln) NC_000005.10:40934334:G:A Identity +NM_001080522.2:c.2554G>C NP_001073991.2:p.Ala852Pro NC_000004.12:15555138:G:C p.(Ala852Pro) NC_000004.12:15555138:G:C p.(Ala852Pro) NC_000004.12:15555138:G:C Identity +NM_001039210.5:c.300G>A NP_001034299.3:p.Gly100= NC_000023.11:111685078:G:A p.(Gly100=) NC_000023.11:111685078:G:A p.(Gly100=) NC_000023.11:111685078:G:A Identity +NM_206933.4:c.5239G>A NP_996816.3:p.Asp1747Asn NC_000001.11:216083514:C:T p.(Asp1747Asn) NC_000001.11:216083514:C:T p.(Asp1747Asn) NC_000001.11:216083514:C:T Identity +NM_001081676.2:c.5441A>C NP_001075145.1:p.Glu1814Ala NC_000002.12:165090564:T:G p.(Glu1814Ala) NC_000002.12:165090564:T:G p.(Glu1814Ala) NC_000002.12:165090564:T:G Identity +NM_002796.3:c.625G>A NP_002787.2:p.Glu209Lys NC_000001.11:151401286:G:A p.(Glu209Lys) NC_000001.11:151401286:G:A p.(Glu209Lys) NC_000001.11:151401286:G:A Identity +NM_001379277.1:c.305AAG[1] NP_001366206.1:p.Glu103del NC_000007.14:92061317:AAGAAG:AAG p.(Glu103del) NC_000007.14:92061317:A:AAG ERR:Parse ERR:Parse Identity +NM_015375.3:c.1238del NP_056190.1:p.Gln413fs NC_000001.11:205169248:T: p.(Gln413ArgfsTer4) NC_000001.11:205169248:T: p.(Gln413ArgfsTer4) NC_000001.11:205169248:T: Analogous +NM_005876.5:c.8942G>A NP_005867.3:p.Arg2981Gln NC_000002.12:219490428:G:A p.(Arg2981Gln) NC_000002.12:219490428:G:A p.(Arg2981Gln) NC_000002.12:219490428:G:A Identity +NM_001349253.2:c.4016T>C NP_001336182.1:p.Leu1339Ser NC_000003.12:38863234:A:G p.(Leu1339Ser) NC_000003.12:38863234:A:G p.(Leu1339Ser) NC_000003.12:38863234:A:G Identity +NM_001130438.3:c.1039C>T NP_001123910.1:p.Arg347Cys NC_000009.12:128577459:C:T p.(Arg347Cys) NC_000009.12:128577459:C:T p.(Arg347Cys) NC_000009.12:128577459:C:T Identity +NM_001033053.3:c.3243_3245del NP_001028225.1:p.Asp1082del NC_000017.11:5532884:TCATC:TC p.(Asp1082del) NC_000017.11:5532884:TCATC:TC p.(Asp1082del) NC_000017.11:5532884:TCA: Identity +NM_000554.6:c.415T>G NP_000545.1:p.Ser139Ala NC_000019.10:47839481:T:G p.(Ser139Ala) NC_000019.10:47839481:T:G p.(Ser139Ala) NC_000019.10:47839481:T:G Identity +NM_001042413.2:c.2258A>G NP_001035878.1:p.Gln753Arg NC_000009.12:3879465:T:C p.(Gln753Arg) NC_000009.12:3879465:T:C p.(Gln753Arg) NC_000009.12:3879465:T:C Identity +NM_001281737.2:c.1371dup NP_001268666.1:p.Ile458fs NC_000004.12:158706671:T:TT p.(Ile458TyrfsTer2) NC_000004.12:158706671:T:TT p.(Ile458TyrfsTer2) ERR:SPDI Analogous +NM_001113378.2:c.2197A>G NP_001106849.1:p.Thr733Ala NC_000015.10:89292968:A:G p.(Thr733Ala) NC_000015.10:89292968:A:G p.(Thr733Ala) NC_000015.10:89292968:A:G Identity +NM_001278511.2:c.2316G>C NP_001265440.1:p.Lys772Asn NC_000015.10:82663587:C:G p.(Lys772Asn) NC_000015.10:82663587:C:G p.(Lys772Asn) NC_000015.10:82663587:C:G Identity +NM_003803.4:c.169G>A NP_003794.3:p.Glu57Lys NC_000018.10:3215054:C:T p.(Glu57Lys) NC_000018.10:3215054:C:T p.(Glu57Lys) NC_000018.10:3215054:C:T Identity +NM_001271999.2:c.831A>T NP_001258928.1:p.Glu277Asp NC_000001.11:62636590:T:A p.(Glu277Asp) NC_000001.11:62636590:T:A p.(Glu277Asp) NC_000001.11:62636590:T:A Identity +NM_001277269.2:c.1759G>T NP_001264198.1:p.Ala587Ser NC_000011.10:17569233:G:T p.(Ala587Ser) NC_000011.10:17569233:G:T p.(Ala587Ser) NC_000011.10:17569233:G:T Identity +NM_001347465.2:c.449G>A NP_001334394.1:p.Arg150Gln NC_000001.11:22639117:G:A p.(Arg150Gln) NC_000001.11:22639117:G:A p.(Arg150Gln) NC_000001.11:22639117:G:A Identity +NM_000411.8:c.1966C>T NP_000402.3:p.Pro656Ser NC_000021.9:36756584:G:A p.(Pro656Ser) NC_000021.9:36756584:G:A p.(Pro656Ser) NC_000021.9:36756584:G:A Identity +NM_012327.6:c.804G>T NP_036459.1:p.Trp268Cys NC_000018.10:62146971:C:A p.(Trp268Cys) NC_000018.10:62146971:C:A p.(Trp268Cys) NC_000018.10:62146971:C:A Identity +NM_001130965.3:c.1513G>A NP_001124437.1:p.Val505Ile NC_000007.14:857945:G:A p.(Val505Ile) NC_000007.14:857945:G:A p.(Val505Ile) NC_000007.14:857945:G:A Identity +NM_000445.5:c.11804C>T NP_000436.2:p.Ala3935Val NC_000008.11:143918097:G:A p.(Ala3935Val) NC_000008.11:143918097:G:A p.(Ala3935Val) NC_000008.11:143918097:G:A Identity +NM_001282225.2:c.1097C>T NP_001269154.1:p.Ser366Phe NC_000022.11:17182745:G:A p.(Ser366Phe) NC_000022.11:17182745:G:A p.(Ser366Phe) NC_000022.11:17182745:G:A Identity +NM_022124.6:c.4672G>A NP_071407.4:p.Gly1558Arg NC_000010.11:71741747:G:A p.(Gly1558Arg) NC_000010.11:71741747:G:A p.(Gly1558Arg) NC_000010.11:71741747:G:A Identity +NM_001042663.3:c.646C>T NP_001036128.2:p.Pro216Ser NC_000001.11:6474068:G:A p.(Pro216Ser) NC_000001.11:6474068:G:A p.(Pro216Ser) NC_000001.11:6474068:G:A Identity +NM_001286130.2:c.1345A>T NP_001273059.1:p.Ser449Cys NC_000016.10:57939438:T:A p.(Ser449Cys) NC_000016.10:57939438:T:A p.(Ser449Cys) NC_000016.10:57939438:T:A Identity +NM_002292.4:c.3882_3892del NP_002283.3:p.Asn1294fs NC_000003.12:49123536:TTAGTGCATGGTT:TT p.(Asn1294LysfsTer7) NC_000003.12:49123536:TTAGTGCATGGTT:TT p.(Asn1294LysfsTer7) NC_000003.12:49123536:TTAGTGCATGG: Analogous +NM_001377523.1:c.1481G>T NP_001364452.1:p.Gly494Val NC_000014.9:21343198:G:T p.(Gly494Val) NC_000014.9:21343198:G:T p.(Gly494Val) NC_000014.9:21343198:G:T Identity +NM_001142805.2:c.1253del NP_001136277.1:p.Gly418fs NC_000023.11:153694156:GG:G p.(Gly418AlafsTer35) NC_000023.11:153694156:GG:G p.(Gly418AlafsTer35) NC_000023.11:153694157:G: Analogous +NM_001184.4:c.85G>A NP_001175.2:p.Val29Ile NC_000003.12:142568128:C:T p.(Val29Ile) NC_000003.12:142568128:C:T p.(Val29Ile) NC_000003.12:142568128:C:T Identity +NM_015192.4:c.3507G>A NP_056007.1:p.Met1169Ile NC_000020.11:8881704:G:A p.(Met1169Ile) NC_000020.11:8881704:G:A p.(Met1169Ile) NC_000020.11:8881704:G:A Identity +NM_000440.3:c.794C>G NP_000431.2:p.Thr265Arg NC_000005.10:149931091:G:C p.(Thr265Arg) NC_000005.10:149931091:G:C p.(Thr265Arg) NC_000005.10:149931091:G:C Identity +NM_004104.5:c.834G>T NP_004095.4:p.Gln278His NC_000017.11:82092756:C:A p.(Gln278His) NC_000017.11:82092756:C:A p.(Gln278His) NC_000017.11:82092756:C:A Identity +NM_001288705.3:c.871A>G NP_001275634.1:p.Met291Val NC_000005.10:150077293:T:C p.(Met291Val) NC_000005.10:150077293:T:C p.(Met291Val) NC_000005.10:150077293:T:C Identity +NM_002500.5:c.944G>T NP_002491.3:p.Gly315Val NC_000002.12:181677916:C:A p.(Gly315Val) NC_000002.12:181677916:C:A p.(Gly315Val) NC_000002.12:181677916:C:A Identity +NM_001363711.2:c.175C>T NP_001350640.1:p.Arg59Cys NC_000015.10:45112703:G:A p.(Arg59Cys) NC_000015.10:45112703:G:A p.(Arg59Cys) NC_000015.10:45112703:G:A Identity +NM_000028.3:c.2465G>A NP_000019.2:p.Gly822Glu NC_000001.11:99884369:G:A p.(Gly822Glu) NC_000001.11:99884369:G:A p.(Gly822Glu) NC_000001.11:99884369:G:A Identity +NM_024753.5:c.1427G>A NP_079029.3:p.Arg476His NC_000002.12:165924637:C:T p.(Arg476His) NC_000002.12:165924637:C:T p.(Arg476His) NC_000002.12:165924637:C:T Identity +NM_004387.4:c.510G>C NP_004378.1:p.Gln170His NC_000005.10:173233033:C:G p.(Gln170His) NC_000005.10:173233033:C:G p.(Gln170His) NC_000005.10:173233033:C:G Identity +NM_001244008.2:c.1531C>G NP_001230937.1:p.Leu511Val NC_000002.12:240767311:G:C p.(Leu511Val) NC_000002.12:240767311:G:C p.(Leu511Val) NC_000002.12:240767311:G:C Identity +NM_000455.5:c.19C>T NP_000446.1:p.Gln7Ter NC_000019.10:1206931:C:T p.(Gln7Ter) NC_000019.10:1206931:C:T p.(Gln7Ter) NC_000019.10:1206931:C:T Identity +NM_000329.3:c.1123G>A NP_000320.1:p.Asp375Asn NC_000001.11:68438191:C:T p.(Asp375Asn) NC_000001.11:68438191:C:T p.(Asp375Asn) NC_000001.11:68438191:C:T Identity +NM_001177984.3:c.1963C>T NP_001171455.1:p.Pro655Ser NC_000012.12:51721872:C:T p.(Pro655Ser) NC_000012.12:51721872:C:T p.(Pro655Ser) NC_000012.12:51721872:C:T Identity +NM_001385640.1:c.2405C>T NP_001372569.1:p.Pro802Leu NC_000001.11:944019:C:T p.(Pro802Leu) NC_000001.11:944019:C:T p.(Pro802Leu) NC_000001.11:944019:C:T Identity +NM_000238.4:c.3206G>A NP_000229.1:p.Arg1069Lys NC_000007.14:150947000:C:T p.(Arg1069Lys) NC_000007.14:150947000:C:T p.(Arg1069Lys) NC_000007.14:150947000:C:T Identity +NM_000548.5:c.3037G>C NP_000539.2:p.Asp1013His NC_000016.10:2079101:G:C p.(Asp1013His) NC_000016.10:2079101:G:C p.(Asp1013His) NC_000016.10:2079101:G:C Identity +NM_003105.6:c.4412G>A NP_003096.2:p.Cys1471Tyr NC_000011.10:121595664:G:A p.(Cys1471Tyr) NC_000011.10:121595664:G:A p.(Cys1471Tyr) NC_000011.10:121595664:G:A Identity +NM_001105206.3:c.3829T>C NP_001098676.2:p.Ser1277Pro NC_000006.12:112132757:A:G p.(Ser1277Pro) NC_000006.12:112132757:A:G p.(Ser1277Pro) NC_000006.12:112132757:A:G Identity +NM_001317163.2:c.4942T>G NP_001304092.1:p.Leu1648Val NC_000009.12:120952845:A:C p.(Leu1648Val) NC_000009.12:120952845:A:C p.(Leu1648Val) NC_000009.12:120952845:A:C Identity +NM_001320892.2:c.343C>G NP_001307821.1:p.Pro115Ala NC_000002.12:25282545:G:C p.(Pro115Ala) NC_000002.12:25282545:G:C p.(Pro115Ala) NC_000002.12:25282545:G:C Identity +NM_001284351.3:c.2400G>C NP_001271280.1:p.Lys800Asn NC_000005.10:474956:C:G p.(Lys800Asn) NC_000005.10:474956:C:G p.(Lys800Asn) NC_000005.10:474956:C:G Identity +NM_015425.6:c.1991A>G NP_056240.2:p.Lys664Arg NC_000002.12:86065340:T:C p.(Lys664Arg) NC_000002.12:86065340:T:C p.(Lys664Arg) NC_000002.12:86065340:T:C Identity +NM_020964.3:c.970C>T NP_066015.2:p.Arg324Trp NC_000018.10:45954431:G:A p.(Arg324Trp) NC_000018.10:45954431:G:A p.(Arg324Trp) NC_000018.10:45954431:G:A Identity +NM_001143779.2:c.224A>G NP_001137251.1:p.Lys75Arg NC_000012.12:110128124:A:G p.(Lys75Arg) NC_000012.12:110128124:A:G p.(Lys75Arg) NC_000012.12:110128124:A:G Identity +NM_006059.4:c.3725T>C NP_006050.3:p.Val1242Ala NC_000009.12:131077281:T:C p.(Val1242Ala) NC_000009.12:131077281:T:C p.(Val1242Ala) NC_000009.12:131077281:T:C Identity +NM_000548.5:c.3115A>G NP_000539.2:p.Thr1039Ala NC_000016.10:2079179:A:G p.(Thr1039Ala) NC_000016.10:2079179:A:G p.(Thr1039Ala) NC_000016.10:2079179:A:G Identity +NM_015909.4:c.7076C>A NP_056993.2:p.Thr2359Asn NC_000002.12:15167087:G:T p.(Thr2359Asn) NC_000002.12:15167087:G:T p.(Thr2359Asn) NC_000002.12:15167087:G:T Identity +NM_000217.3:c.635A>G NP_000208.2:p.Tyr212Cys NC_000012.12:4912012:A:G p.(Tyr212Cys) NC_000012.12:4912012:A:G p.(Tyr212Cys) NC_000012.12:4912012:A:G Identity +NM_018010.4:c.736G>A NP_060480.1:p.Val246Ile NC_000003.12:108191561:C:T p.(Val246Ile) NC_000003.12:108191561:C:T p.(Val246Ile) NC_000003.12:108191561:C:T Identity +NM_001144769.5:c.13237C>G NP_001138241.1:p.Gln4413Glu NC_000006.12:56501665:G:C p.(Gln4413Glu) NC_000006.12:56501665:G:C p.(Gln4413Glu) NC_000006.12:56501665:G:C Identity +NM_000843.4:c.469T>C NP_000834.2:p.Ser157Pro NC_000005.10:178994475:A:G p.(Ser157Pro) NC_000005.10:178994475:A:G p.(Ser157Pro) NC_000005.10:178994475:A:G Identity +NM_000152.5:c.2093C>T NP_000143.2:p.Ala698Val NC_000017.11:80113269:C:T p.(Ala698Val) NC_000017.11:80113269:C:T p.(Ala698Val) NC_000017.11:80113269:C:T Identity +NM_001142800.2:c.6953A>T NP_001136272.1:p.Glu2318Val NC_000006.12:63984484:T:A p.(Glu2318Val) NC_000006.12:63984484:T:A p.(Glu2318Val) NC_000006.12:63984484:T:A Identity +NM_001161520.2:c.796A>T NP_001154992.2:p.Ile266Leu NC_000007.14:107372633:T:A p.(Ile266Leu) NC_000007.14:107372633:T:A p.(Ile266Leu) NC_000007.14:107372633:T:A Identity +NM_024642.5:c.1544C>T NP_078918.3:p.Thr515Ile NC_000009.12:98846061:C:T p.(Thr515Ile) NC_000009.12:98846061:C:T p.(Thr515Ile) NC_000009.12:98846061:C:T Identity +NM_000179.3:c.1286T>C NP_000170.1:p.Val429Ala NC_000002.12:47799268:T:C p.(Val429Ala) NC_000002.12:47799268:T:C p.(Val429Ala) NC_000002.12:47799268:T:C Identity +NM_018706.7:c.1961G>A NP_061176.4:p.Ser654Asn NC_000010.11:12106309:G:A p.(Ser654Asn) NC_000010.11:12106309:G:A p.(Ser654Asn) NC_000010.11:12106309:G:A Identity +NM_001291285.3:c.446G>A NP_001278214.1:p.Ser149Asn NC_000004.12:125316856:G:A p.(Ser149Asn) NC_000004.12:125316856:G:A p.(Ser149Asn) NC_000004.12:125316856:G:A Identity +NM_020376.4:c.385A>G NP_065109.1:p.Ile129Val NC_000011.10:821824:A:G p.(Ile129Val) NC_000011.10:821824:A:G p.(Ile129Val) NC_000011.10:821824:A:G Identity +NM_001242385.2:c.271A>G NP_001229314.1:p.Lys91Glu NC_000006.12:10817856:T:C p.(Lys91Glu) NC_000006.12:10817856:T:C p.(Lys91Glu) NC_000006.12:10817856:T:C Identity +NM_000245.4:c.2027C>A NP_000236.2:p.Thr676Asn NC_000007.14:116757698:C:A p.(Thr676Asn) NC_000007.14:116757698:C:A p.(Thr676Asn) NC_000007.14:116757698:C:A Identity +NM_001199771.3:c.767T>C NP_001186700.1:p.Ile256Thr NC_000012.12:55724354:T:C p.(Ile256Thr) NC_000012.12:55724354:T:C p.(Ile256Thr) NC_000012.12:55724354:T:C Identity +NM_004415.4:c.5020dup NP_004406.2:p.Ser1674fs NC_000006.12:7581207:AAA:AAAA p.(Ser1674LysfsTer10) NC_000006.12:7581207:AAA:AAAA p.(Ser1674LysfsTer10) ERR:SPDI Analogous +NM_000479.5:c.251T>A NP_000470.3:p.Leu84Gln NC_000019.10:2249582:T:A p.(Leu84Gln) NC_000019.10:2249582:T:A p.(Leu84Gln) NC_000019.10:2249582:T:A Identity +NM_001323956.2:c.506G>A NP_001310885.1:p.Arg169Lys NC_000020.11:422224:G:A p.(Arg169Lys) NC_000020.11:422224:G:A p.(Arg169Lys) NC_000020.11:422224:G:A Identity +NM_001308176.2:c.974G>A NP_001295105.1:p.Gly325Asp NC_000018.10:27993590:C:T p.(Gly325Asp) NC_000018.10:27993590:C:T p.(Gly325Asp) NC_000018.10:27993590:C:T Identity +NM_153006.3:c.1018C>T NP_694551.1:p.Leu340Phe NC_000017.11:44006630:C:T p.(Leu340Phe) NC_000017.11:44006630:C:T p.(Leu340Phe) NC_000017.11:44006630:C:T Identity +NM_001321268.2:c.670C>T NP_001308197.1:p.His224Tyr NC_000017.11:58207212:G:A p.(His224Tyr) NC_000017.11:58207212:G:A p.(His224Tyr) NC_000017.11:58207212:G:A Identity +NM_001318360.2:c.3480G>A NP_001305289.1:p.Trp1160Ter NC_000009.12:108878027:C:T p.(Trp1160Ter) NC_000009.12:108878027:C:T p.(Trp1160Ter) NC_000009.12:108878027:C:T Identity +NM_001378454.1:c.11328C>G NP_001365383.1:p.His3776Gln NC_000002.12:73573204:C:G p.(His3776Gln) NC_000002.12:73573204:C:G p.(His3776Gln) NC_000002.12:73573204:C:G Identity +NM_001178007.2:c.1310T>C NP_001171478.1:p.Val437Ala NC_000004.12:122743201:T:C p.(Val437Ala) NC_000004.12:122743201:T:C p.(Val437Ala) NC_000004.12:122743201:T:C Identity +NM_001353765.2:c.1241A>G NP_001340694.1:p.Gln414Arg NC_000002.12:29193641:T:C p.(Gln414Arg) NC_000002.12:29193641:T:C p.(Gln414Arg) NC_000002.12:29193641:T:C Identity +NM_198075.4:c.218C>T NP_932341.1:p.Thr73Met NC_000011.10:541576:C:T p.(Thr73Met) NC_000011.10:541576:C:T p.(Thr73Met) NC_000011.10:541576:C:T Identity +NM_000747.3:c.82G>A NP_000738.2:p.Gly28Ser NC_000017.11:7445292:G:A p.(Gly28Ser) NC_000017.11:7445292:G:A p.(Gly28Ser) NC_000017.11:7445292:G:A Identity +NM_021620.4:c.1025G>T NP_067633.2:p.Gly342Val NC_000006.12:99613659:G:T p.(Gly342Val) NC_000006.12:99613659:G:T p.(Gly342Val) NC_000006.12:99613659:G:T Identity +NM_001349896.1:c.1297A>T NP_001336825.1:p.Met433Leu NC_000022.11:26464332:T:A p.(Met433Leu) NC_000022.11:26464332:T:A p.(Met433Leu) NC_000022.11:26464332:T:A Identity +NM_000158.4:c.480G>A NP_000149.4:p.Trp160Ter NC_000003.12:81649870:C:T p.(Trp160Ter) NC_000003.12:81649870:C:T p.(Trp160Ter) NC_000003.12:81649870:C:T Identity +NM_001358921.2:c.17C>T NP_001345850.1:p.Ala6Val NC_000004.12:83284747:G:A p.(Ala6Val) NC_000004.12:83284747:G:A p.(Ala6Val) NC_000004.12:83284747:G:A Identity +NM_020884.7:c.976A>G NP_065935.4:p.Met326Val NC_000020.11:34986956:A:G p.(Met326Val) NC_000020.11:34986956:A:G p.(Met326Val) NC_000020.11:34986956:A:G Identity +NM_024577.4:c.1529A>C NP_078853.2:p.Tyr510Ser NC_000005.10:149028202:T:G p.(Tyr510Ser) NC_000005.10:149028202:T:G p.(Tyr510Ser) NC_000005.10:149028202:T:G Identity +NM_001909.5:c.371A>G NP_001900.1:p.Asn124Ser NC_000011.10:1759068:T:C p.(Asn124Ser) NC_000011.10:1759068:T:C p.(Asn124Ser) NC_000011.10:1759068:T:C Identity +NM_000440.3:c.251A>G NP_000431.2:p.Lys84Arg NC_000005.10:149944422:T:C p.(Lys84Arg) NC_000005.10:149944422:T:C p.(Lys84Arg) NC_000005.10:149944422:T:C Identity +NM_001042410.2:c.325C>G NP_001035869.1:p.Leu109Val NC_000002.12:219232322:C:G p.(Leu109Val) NC_000002.12:219232322:C:G p.(Leu109Val) NC_000002.12:219232322:C:G Identity +NM_002661.5:c.3343C>G NP_002652.2:p.Pro1115Ala NC_000016.10:81939920:C:G p.(Pro1115Ala) NC_000016.10:81939920:C:G p.(Pro1115Ala) NC_000016.10:81939920:C:G Identity +NM_001100112.2:c.3250G>A NP_001093582.1:p.Glu1084Lys NC_000017.11:10529348:C:T p.(Glu1084Lys) NC_000017.11:10529348:C:T p.(Glu1084Lys) NC_000017.11:10529348:C:T Identity +NM_001031737.3:c.1274G>A NP_001026907.2:p.Ser425Asn NC_000016.10:722944:C:T p.(Ser425Asn) NC_000016.10:722944:C:T p.(Ser425Asn) NC_000016.10:722944:C:T Identity +NM_000038.6:c.3714_3717del NP_000029.2:p.Ser1238fs NC_000005.10:112839307:TAGA: p.(Ser1238ArgfsTer26) NC_000005.10:112839307:TAGA: p.(Ser1238ArgfsTer26) NC_000005.10:112839307:TAGA: Analogous +NM_001316690.1:c.1537A>G NP_001303619.1:p.Thr513Ala NC_000008.11:60742968:A:G p.(Thr513Ala) NC_000008.11:60742968:A:G p.(Thr513Ala) NC_000008.11:60742968:A:G Identity +NM_206933.4:c.5789G>A NP_996816.3:p.Arg1930Gln NC_000001.11:216072956:C:T p.(Arg1930Gln) NC_000001.11:216072956:C:T p.(Arg1930Gln) NC_000001.11:216072956:C:T Identity +NM_014510.3:c.13840G>A NP_055325.2:p.Ala4614Thr NC_000007.14:82845476:C:T p.(Ala4614Thr) NC_000007.14:82845476:C:T p.(Ala4614Thr) NC_000007.14:82845476:C:T Identity +NM_001164665.2:c.499A>G NP_001158137.1:p.Thr167Ala NC_000007.14:138919126:T:C p.(Thr167Ala) NC_000007.14:138919126:T:C p.(Thr167Ala) NC_000007.14:138919126:T:C Identity +NM_000812.4:c.1270C>T NP_000803.2:p.Pro424Ser NC_000004.12:47425862:C:T p.(Pro424Ser) NC_000004.12:47425862:C:T p.(Pro424Ser) NC_000004.12:47425862:C:T Identity +NM_015909.4:c.4610T>C NP_056993.2:p.Leu1537Ser NC_000002.12:15309219:A:G p.(Leu1537Ser) NC_000002.12:15309219:A:G p.(Leu1537Ser) NC_000002.12:15309219:A:G Identity +NM_017671.5:c.1037C>T NP_060141.3:p.Ala346Val NC_000020.11:6096953:G:A p.(Ala346Val) NC_000020.11:6096953:G:A p.(Ala346Val) NC_000020.11:6096953:G:A Identity +NM_001378454.1:c.10612A>G NP_001365383.1:p.Thr3538Ala NC_000002.12:73572488:A:G p.(Thr3538Ala) NC_000002.12:73572488:A:G p.(Thr3538Ala) NC_000002.12:73572488:A:G Identity +NM_001351059.2:c.1204G>T NP_001337988.1:p.Asp402Tyr NC_000011.10:68050045:G:T p.(Asp402Tyr) NC_000011.10:68050045:G:T p.(Asp402Tyr) NC_000011.10:68050045:G:T Identity +NM_001379286.1:c.173G>A NP_001366215.1:p.Ser58Asn NC_000016.10:49730898:C:T p.(Ser58Asn) NC_000016.10:49730898:C:T p.(Ser58Asn) NC_000016.10:49730898:C:T Identity +NM_001365819.1:c.3337C>T NP_001352748.1:p.Pro1113Ser NC_000022.11:50460108:G:A p.(Pro1113Ser) NC_000022.11:50460108:G:A p.(Pro1113Ser) NC_000022.11:50460108:G:A Identity +NM_001142333.2:c.244G>A NP_001135805.1:p.Ala82Thr NC_000016.10:7518362:G:A p.(Ala82Thr) NC_000016.10:7518362:G:A p.(Ala82Thr) NC_000016.10:7518362:G:A Identity +NM_000083.3:c.2089C>A NP_000074.3:p.Leu697Ile NC_000007.14:143345678:C:A p.(Leu697Ile) NC_000007.14:143345678:C:A p.(Leu697Ile) NC_000007.14:143345678:C:A Identity +NM_000051.4:c.3832G>C NP_000042.3:p.Asp1278His NC_000011.10:108284311:G:C p.(Asp1278His) NC_000011.10:108284311:G:C p.(Asp1278His) NC_000011.10:108284311:G:C Identity +NM_206933.4:c.7642A>G NP_996816.3:p.Met2548Val NC_000001.11:215889006:T:C p.(Met2548Val) NC_000001.11:215889006:T:C p.(Met2548Val) NC_000001.11:215889006:T:C Identity +NM_001122606.1:c.1006A>T NP_001116078.1:p.Thr336Ser NC_000023.11:120441816:T:A p.(Thr336Ser) NC_000023.11:120441816:T:A p.(Thr336Ser) NC_000023.11:120441816:T:A Identity +NM_001164098.2:c.1886G>A NP_001157570.1:p.Gly629Asp NC_000005.10:83520191:G:A p.(Gly629Asp) NC_000005.10:83520191:G:A p.(Gly629Asp) NC_000005.10:83520191:G:A Identity +NM_001371986.1:c.6838G>A NP_001358915.1:p.Val2280Ile NC_000002.12:209941411:G:A p.(Val2280Ile) NC_000002.12:209941411:G:A p.(Val2280Ile) NC_000002.12:209941411:G:A Identity +NM_006509.4:c.26G>A NP_006500.2:p.Gly9Glu NC_000019.10:45001604:G:A p.(Gly9Glu) NC_000019.10:45001604:G:A p.(Gly9Glu) NC_000019.10:45001604:G:A Identity +NM_000328.3:c.1777G>A NP_000319.1:p.Ala593Thr NC_000023.11:38287221:C:T p.(Ala593Thr) NC_000023.11:38287221:C:T p.(Ala593Thr) NC_000023.11:38287221:C:T Identity +NM_001135659.3:c.3238C>G NP_001129131.1:p.Pro1080Ala NC_000002.12:50472423:G:C p.(Pro1080Ala) NC_000002.12:50472423:G:C p.(Pro1080Ala) NC_000002.12:50472423:G:C Identity +NM_000314.8:c.1164G>T NP_000305.3:p.Glu388Asp NC_000010.11:87965423:G:T p.(Glu388Asp) NC_000010.11:87965423:G:T p.(Glu388Asp) NC_000010.11:87965423:G:T Identity +NM_001008844.3:c.6026C>A NP_001008844.1:p.Ser2009Tyr NC_000006.12:7585084:C:A p.(Ser2009Tyr) NC_000006.12:7585084:C:A p.(Ser2009Tyr) NC_000006.12:7585084:C:A Identity +NM_001345868.2:c.715A>G NP_001332797.1:p.Ile239Val NC_000004.12:44686003:A:G p.(Ile239Val) NC_000004.12:44686003:A:G p.(Ile239Val) NC_000004.12:44686003:A:G Identity +NM_001278268.2:c.1003T>A NP_001265197.1:p.Tyr335Asn NC_000018.10:62368961:T:A p.(Tyr335Asn) NC_000018.10:62368961:T:A p.(Tyr335Asn) NC_000018.10:62368961:T:A Identity +NM_006059.4:c.1115A>G NP_006050.3:p.Tyr372Cys NC_000009.12:131039001:A:G p.(Tyr372Cys) NC_000009.12:131039001:A:G p.(Tyr372Cys) NC_000009.12:131039001:A:G Identity +NM_001242881.2:c.595C>G NP_001229810.1:p.Arg199Gly NC_000013.11:110634719:C:G p.(Arg199Gly) NC_000013.11:110634719:C:G p.(Arg199Gly) NC_000013.11:110634719:C:G Identity +NM_001350935.2:c.1346G>A NP_001337864.1:p.Arg449Gln NC_000012.12:122474043:C:T p.(Arg449Gln) NC_000012.12:122474043:C:T p.(Arg449Gln) NC_000012.12:122474043:C:T Identity +NM_004944.4:c.275G>A NP_004935.1:p.Arg92Gln NC_000003.12:58205515:C:T p.(Arg92Gln) NC_000003.12:58205515:C:T p.(Arg92Gln) NC_000003.12:58205515:C:T Identity +NM_024753.5:c.226G>T NP_079029.3:p.Ala76Ser NC_000002.12:165949429:C:A p.(Ala76Ser) NC_000002.12:165949429:C:A p.(Ala76Ser) NC_000002.12:165949429:C:A Identity +NM_153240.5:c.838G>A NP_694972.3:p.Ala280Thr NC_000003.12:132715203:C:T p.(Ala280Thr) NC_000003.12:132715203:C:T p.(Ala280Thr) NC_000003.12:132715203:C:T Identity +NM_001942.4:c.1543T>C NP_001933.2:p.Tyr515His NC_000018.10:31339880:T:C p.(Tyr515His) NC_000018.10:31339880:T:C p.(Tyr515His) NC_000018.10:31339880:T:C Identity +NM_001098511.3:c.1615A>G NP_001091981.1:p.Asn539Asp NC_000005.10:62366449:A:G p.(Asn539Asp) NC_000005.10:62366449:A:G p.(Asn539Asp) NC_000005.10:62366449:A:G Identity +NM_000138.5:c.199T>C NP_000129.3:p.Cys67Arg NC_000015.10:48613057:A:G p.(Cys67Arg) NC_000015.10:48613057:A:G p.(Cys67Arg) NC_000015.10:48613057:A:G Identity +NM_000088.4:c.3009del NP_000079.2:p.Gly1004fs NC_000017.11:50188938:A: p.(Gly1004AspfsTer104) NC_000017.11:50188938:A: p.(Gly1004AspfsTer104) NC_000017.11:50188938:A: Analogous +NM_000404.4:c.1576_1583dup NP_000395.3:p.His529fs NC_000003.12:33014206:CCCCAGCCCCCCAG:CCCCAGCCCCCCAGCCCCCCAG p.(His529AlafsTer74) NC_000003.12:33014206:CCCCAGCCCCCCAG:CCCCAGCCCCCCAGCCCCCCAG p.(His529AlafsTer74) ERR:SPDI Analogous +NM_001127396.3:c.532G>A NP_001120868.1:p.Ala178Thr NC_000019.10:7641815:G:A p.(Ala178Thr) NC_000019.10:7641815:G:A p.(Ala178Thr) NC_000019.10:7641815:G:A Identity +NM_001453.3:c.509G>A NP_001444.2:p.Arg170Gln NC_000006.12:1610953:G:A p.(Arg170Gln) NC_000006.12:1610953:G:A p.(Arg170Gln) NC_000006.12:1610953:G:A Identity +NM_001258392.3:c.343A>G NP_001245321.1:p.Met115Val NC_000011.10:72434131:T:C p.(Met115Val) NC_000011.10:72434131:T:C p.(Met115Val) NC_000011.10:72434131:T:C Identity +NM_005359.6:c.190A>G NP_005350.1:p.Asn64Asp NC_000018.10:51047235:A:G p.(Asn64Asp) NC_000018.10:51047235:A:G p.(Asn64Asp) NC_000018.10:51047235:A:G Identity +NM_001353591.2:c.20C>T NP_001340520.1:p.Ala7Val NC_000014.9:74302892:G:A p.(Ala7Val) NC_000014.9:74302892:G:A p.(Ala7Val) NC_000014.9:74302892:G:A Identity +NM_001193304.3:c.139G>A NP_001180233.1:p.Ala47Thr NC_000002.12:96265242:C:T p.(Ala47Thr) NC_000002.12:96265242:C:T p.(Ala47Thr) NC_000002.12:96265242:C:T Identity +NM_001346897.2:c.718T>C NP_001333826.1:p.Tyr240His NC_000007.14:55154115:T:C p.(Tyr240His) NC_000007.14:55154115:T:C p.(Tyr240His) NC_000007.14:55154115:T:C Identity +NM_020207.7:c.4452G>C NP_064592.3:p.Glu1484Asp NC_000009.12:96013001:G:C p.(Glu1484Asp) NC_000009.12:96013001:G:C p.(Glu1484Asp) NC_000009.12:96013001:G:C Identity +NM_001306079.2:c.697G>C NP_001293008.1:p.Val233Leu NC_000002.12:27222924:G:C p.(Val233Leu) NC_000002.12:27222924:G:C p.(Val233Leu) NC_000002.12:27222924:G:C Identity +NM_001256560.2:c.294T>A NP_001243489.1:p.Asp98Glu NC_000003.12:58204817:A:T p.(Asp98Glu) NC_000003.12:58204817:A:T p.(Asp98Glu) NC_000003.12:58204817:A:T Identity +NM_000051.4:c.5642G>C NP_000042.3:p.Ser1881Thr NC_000011.10:108304819:G:C p.(Ser1881Thr) NC_000011.10:108304819:G:C p.(Ser1881Thr) NC_000011.10:108304819:G:C Identity +NM_004260.4:c.2459C>T NP_004251.4:p.Pro820Leu NC_000008.11:144513221:G:A p.(Pro820Leu) NC_000008.11:144513221:G:A p.(Pro820Leu) NC_000008.11:144513221:G:A Identity +NM_005530.3:c.35G>A NP_005521.1:p.Arg12Gln NC_000015.10:78155219:G:A p.(Arg12Gln) NC_000015.10:78155219:G:A p.(Arg12Gln) NC_000015.10:78155219:G:A Identity +NM_001347827.2:c.1962T>A NP_001334756.1:p.His654Gln NC_000004.12:54277965:T:A p.(His654Gln) NC_000004.12:54277965:T:A p.(His654Gln) NC_000004.12:54277965:T:A Identity +NM_003052.5:c.1243G>A NP_003043.3:p.Val415Met NC_000005.10:177396800:G:A p.(Val415Met) NC_000005.10:177396800:G:A p.(Val415Met) NC_000005.10:177396800:G:A Identity +NM_000520.6:c.136T>C NP_000511.2:p.Phe46Leu NC_000015.10:72375836:A:G p.(Phe46Leu) NC_000015.10:72375836:A:G p.(Phe46Leu) NC_000015.10:72375836:A:G Identity +NM_001112808.3:c.2062C>G NP_001106279.3:p.Arg688Gly NC_000001.11:74370378:C:G p.(Arg688Gly) NC_000001.11:74370378:C:G p.(Arg688Gly) NC_000001.11:74370378:C:G Identity +NM_001161357.2:c.1756C>A NP_001154829.1:p.Pro586Thr NC_000019.10:17781466:C:A p.(Pro586Thr) NC_000019.10:17781466:C:A p.(Pro586Thr) NC_000019.10:17781466:C:A Identity +NM_001287758.2:c.4714G>A NP_001274687.1:p.Val1572Ile NC_000023.11:108159610:C:T p.(Val1572Ile) NC_000023.11:108159610:C:T p.(Val1572Ile) NC_000023.11:108159610:C:T Identity +NM_001035.3:c.7952C>T NP_001026.2:p.Ala2651Val NC_000001.11:237654400:C:T p.(Ala2651Val) NC_000001.11:237654400:C:T p.(Ala2651Val) NC_000001.11:237654400:C:T Identity +NM_001003800.2:c.346C>T NP_001003800.1:p.Arg116Trp NC_000009.12:92729130:G:A p.(Arg116Trp) NC_000009.12:92729130:G:A p.(Arg116Trp) NC_000009.12:92729130:G:A Identity +NM_001317090.2:c.77C>T NP_001304019.1:p.Ala26Val NC_000011.10:64293094:C:T p.(Ala26Val) NC_000011.10:64293094:C:T p.(Ala26Val) NC_000011.10:64293094:C:T Identity +NM_001370085.1:c.1336C>T NP_001357014.1:p.Leu446Phe NC_000020.11:761099:G:A p.(Leu446Phe) NC_000020.11:761099:G:A p.(Leu446Phe) NC_000020.11:761099:G:A Identity +NM_015662.3:c.3094C>T NP_056477.1:p.His1032Tyr NC_000002.12:27457857:G:A p.(His1032Tyr) NC_000002.12:27457857:G:A p.(His1032Tyr) NC_000002.12:27457857:G:A Identity +NM_001318204.2:c.879G>C NP_001305133.1:p.Glu293Asp NC_000009.12:91733179:C:G p.(Glu293Asp) NC_000009.12:91733179:C:G p.(Glu293Asp) NC_000009.12:91733179:C:G Identity +NM_000274.4:c.1198A>T NP_000265.1:p.Asn400Tyr NC_000010.11:124398063:T:A p.(Asn400Tyr) NC_000010.11:124398063:T:A p.(Asn400Tyr) NC_000010.11:124398063:T:A Identity +NM_014141.6:c.1045G>A NP_054860.1:p.Asp349Asn NC_000007.14:147128797:G:A p.(Asp349Asn) NC_000007.14:147128797:G:A p.(Asp349Asn) NC_000007.14:147128797:G:A Identity +NM_001272073.2:c.2048G>A NP_001259002.1:p.Arg683Gln NC_000003.12:49098355:C:T p.(Arg683Gln) NC_000003.12:49098355:C:T p.(Arg683Gln) NC_000003.12:49098355:C:T Identity +NM_001148.6:c.5020A>G NP_001139.3:p.Ser1674Gly NC_000004.12:113353637:A:G p.(Ser1674Gly) NC_000004.12:113353637:A:G p.(Ser1674Gly) NC_000004.12:113353637:A:G Identity +NM_000541.5:c.52A>G NP_000532.2:p.Lys18Glu NC_000002.12:233309240:A:G p.(Lys18Glu) NC_000002.12:233309240:A:G p.(Lys18Glu) NC_000002.12:233309240:A:G Identity +NM_014510.3:c.13247G>A NP_055325.2:p.Arg4416His NC_000007.14:82914738:C:T p.(Arg4416His) NC_000007.14:82914738:C:T p.(Arg4416His) NC_000007.14:82914738:C:T Identity +NM_001005407.2:c.6184C>T NP_001005407.1:p.Arg2062Cys NC_000016.10:1220133:C:T p.(Arg2062Cys) NC_000016.10:1220133:C:T p.(Arg2062Cys) NC_000016.10:1220133:C:T Identity +NM_031935.3:c.3441G>T NP_114141.2:p.Met1147Ile NC_000001.11:185993244:G:T p.(Met1147Ile) NC_000001.11:185993244:G:T p.(Met1147Ile) NC_000001.11:185993244:G:T Identity +NM_001079812.3:c.2618A>T NP_001073280.1:p.Asn873Ile NC_000005.10:141529633:T:A p.(Asn873Ile) NC_000005.10:141529633:T:A p.(Asn873Ile) NC_000005.10:141529633:T:A Identity +NM_001145293.2:c.1754A>T NP_001138765.1:p.Tyr585Phe NC_000003.12:25719616:T:A p.(Tyr585Phe) NC_000003.12:25719616:T:A p.(Tyr585Phe) NC_000003.12:25719616:T:A Identity +NM_001252020.2:c.3134C>T NP_001238949.1:p.Pro1045Leu NC_000015.10:31031026:G:A p.(Pro1045Leu) NC_000015.10:31031026:G:A p.(Pro1045Leu) NC_000015.10:31031026:G:A Identity +NM_001277971.2:c.319C>T NP_001264900.1:p.Leu107Phe NC_000008.11:43122142:C:T p.(Leu107Phe) NC_000008.11:43122142:C:T p.(Leu107Phe) NC_000008.11:43122142:C:T Identity +NM_001190981.2:c.1223A>C NP_001177910.1:p.Lys408Thr NC_000005.10:55956068:T:G p.(Lys408Thr) NC_000005.10:55956068:T:G p.(Lys408Thr) NC_000005.10:55956068:T:G Identity +NM_001321281.2:c.2165G>A NP_001308210.1:p.Gly722Glu NC_000019.10:49196738:G:A p.(Gly722Glu) NC_000019.10:49196738:G:A p.(Gly722Glu) NC_000019.10:49196738:G:A Identity +NM_003184.4:c.3436C>A NP_003175.2:p.His1146Asn NC_000008.11:119732087:G:T p.(His1146Asn) NC_000008.11:119732087:G:T p.(His1146Asn) NC_000008.11:119732087:G:T Identity +NM_001190981.2:c.1742A>G NP_001177910.1:p.Asn581Ser NC_000005.10:55947504:T:C p.(Asn581Ser) NC_000005.10:55947504:T:C p.(Asn581Ser) NC_000005.10:55947504:T:C Identity +NM_017890.5:c.11981A>C NP_060360.3:p.His3994Pro NC_000008.11:99875577:A:C p.(His3994Pro) NC_000008.11:99875577:A:C p.(His3994Pro) NC_000008.11:99875577:A:C Identity +NM_024685.4:c.1145T>G NP_078961.3:p.Val382Gly NC_000012.12:76346839:A:C p.(Val382Gly) NC_000012.12:76346839:A:C p.(Val382Gly) NC_000012.12:76346839:A:C Identity +NM_172364.5:c.391G>A NP_758952.4:p.Glu131Lys NC_000012.12:1913057:C:T p.(Glu131Lys) NC_000012.12:1913057:C:T p.(Glu131Lys) NC_000012.12:1913057:C:T Identity +NM_001271723.2:c.34A>G NP_001258652.1:p.Ile12Val NC_000005.10:148394809:A:G p.(Ile12Val) NC_000005.10:148394809:A:G p.(Ile12Val) NC_000005.10:148394809:A:G Identity +NM_001374294.1:c.250C>A NP_001361223.1:p.Gln84Lys NC_000002.12:219501857:C:A p.(Gln84Lys) NC_000002.12:219501857:C:A p.(Gln84Lys) NC_000002.12:219501857:C:A Identity +NM_001007188.4:c.361T>G NP_001007189.1:p.Leu121Val NC_000022.11:31766665:T:G p.(Leu121Val) NC_000022.11:31766665:T:G p.(Leu121Val) NC_000022.11:31766665:T:G Identity +NM_025132.4:c.11T>C NP_079408.3:p.Ile4Thr NC_000004.12:39185729:T:C p.(Ile4Thr) NC_000004.12:39185729:T:C p.(Ile4Thr) NC_000004.12:39185729:T:C Identity +NM_001258206.2:c.1822C>A NP_001245135.1:p.Pro608Thr NC_000019.10:6836475:C:A p.(Pro608Thr) NC_000019.10:6836475:C:A p.(Pro608Thr) NC_000019.10:6836475:C:A Identity +NM_001127891.3:c.55G>T NP_001121363.1:p.Val19Leu NC_000016.10:55482959:G:T p.(Val19Leu) NC_000016.10:55482959:G:T p.(Val19Leu) NC_000016.10:55482959:G:T Identity +NM_001291593.2:c.1735T>C NP_001278522.1:p.Ser579Pro NC_000001.11:5873292:A:G p.(Ser579Pro) NC_000001.11:5873292:A:G p.(Ser579Pro) NC_000001.11:5873292:A:G Identity +NM_020778.5:c.1712T>C NP_065829.4:p.Val571Ala NC_000015.10:84856449:T:C p.(Val571Ala) NC_000015.10:84856449:T:C p.(Val571Ala) NC_000015.10:84856449:T:C Identity +NM_001166111.2:c.1711_1712del NP_001159583.1:p.Cys571fs NC_000019.10:7549978:GTGTG:GTG p.(Cys571ProfsTer43) NC_000019.10:7549978:GTGTG:GTG p.(Cys571ProfsTer43) NC_000019.10:7549981:TG: Analogous +NM_001320632.2:c.1184T>C NP_001307561.1:p.Met395Thr NC_000002.12:127048616:A:G p.(Met395Thr) NC_000002.12:127048616:A:G p.(Met395Thr) NC_000002.12:127048616:A:G Identity +NM_033071.5:c.11846T>A NP_149062.2:p.Ile3949Asn NC_000006.12:152347077:A:T p.(Ile3949Asn) NC_000006.12:152347077:A:T p.(Ile3949Asn) NC_000006.12:152347077:A:T Identity +NM_001031710.3:c.617del NP_001026880.2:p.Gln206fs NC_000007.14:23140942:A: p.(Gln206ArgfsTer10) NC_000007.14:23140942:A: p.(Gln206ArgfsTer10) NC_000007.14:23140942:A: Analogous +NM_000143.4:c.1241A>G NP_000134.2:p.Lys414Arg NC_000001.11:241500585:T:C p.(Lys414Arg) NC_000001.11:241500585:T:C p.(Lys414Arg) NC_000001.11:241500585:T:C Identity +NM_003823.4:c.869G>A NP_003814.1:p.Arg290Gln NC_000020.11:63698528:G:A p.(Arg290Gln) NC_000020.11:63698528:G:A p.(Arg290Gln) NC_000020.11:63698528:G:A Identity +NM_001193300.2:c.854C>T NP_001180229.1:p.Thr285Ile NC_000001.11:156161388:C:T p.(Thr285Ile) NC_000001.11:156161388:C:T p.(Thr285Ile) NC_000001.11:156161388:C:T Identity +NM_024675.4:c.1276G>A NP_078951.2:p.Glu426Lys NC_000016.10:23635269:C:T p.(Glu426Lys) NC_000016.10:23635269:C:T p.(Glu426Lys) NC_000016.10:23635269:C:T Identity +NM_014484.5:c.1010C>T NP_055299.1:p.Ser337Phe NC_000020.11:50959851:C:T p.(Ser337Phe) NC_000020.11:50959851:C:T p.(Ser337Phe) NC_000020.11:50959851:C:T Identity +NM_001194998.2:c.712A>G NP_001181927.1:p.Ile238Val NC_000015.10:48793440:T:C p.(Ile238Val) NC_000015.10:48793440:T:C p.(Ile238Val) NC_000015.10:48793440:T:C Identity +NM_001257096.2:c.244G>C NP_001244025.1:p.Gly82Arg NC_000020.11:21705955:G:C p.(Gly82Arg) NC_000020.11:21705955:G:C p.(Gly82Arg) NC_000020.11:21705955:G:C Identity +NM_000038.6:c.1907G>A NP_000029.2:p.Gly636Asp NC_000005.10:112835113:G:A p.(Gly636Asp) NC_000005.10:112835113:G:A p.(Gly636Asp) NC_000005.10:112835113:G:A Identity +NM_005266.7:c.1028G>A NP_005257.2:p.Arg343His NC_000001.11:147758210:C:T p.(Arg343His) NC_000001.11:147758210:C:T p.(Arg343His) NC_000001.11:147758210:C:T Identity +NM_004260.4:c.121C>T NP_004251.4:p.Leu41Phe NC_000008.11:144517505:G:A p.(Leu41Phe) NC_000008.11:144517505:G:A p.(Leu41Phe) NC_000008.11:144517505:G:A Identity +NM_002076.4:c.1321G>A NP_002067.1:p.Asp441Asn NC_000012.12:64721692:C:T p.(Asp441Asn) NC_000012.12:64721692:C:T p.(Asp441Asn) NC_000012.12:64721692:C:T Identity +NM_000795.4:c.1121T>G NP_000786.1:p.Met374Arg NC_000011.10:113412572:A:C p.(Met374Arg) NC_000011.10:113412572:A:C p.(Met374Arg) NC_000011.10:113412572:A:C Identity +NM_001378477.3:c.1349G>T NP_001365406.2:p.Gly450Val NC_000023.11:41474816:G:T p.(Gly450Val) NC_000023.11:41474816:G:T p.(Gly450Val) NC_000023.11:41474816:G:T Identity +NM_032888.4:c.1450T>C NP_116277.2:p.Phe484Leu NC_000009.12:114169004:T:C p.(Phe484Leu) NC_000009.12:114169004:T:C p.(Phe484Leu) NC_000009.12:114169004:T:C Identity +NM_001283106.3:c.119G>A NP_001270035.1:p.Trp40Ter NC_000022.11:20043416:G:A p.(Trp40Ter) NC_000022.11:20043416:G:A p.(Trp40Ter) NC_000022.11:20043416:G:A Identity +NM_001353229.2:c.883G>C NP_001340158.1:p.Ala295Pro NC_000017.11:17221578:C:G p.(Ala295Pro) NC_000017.11:17221578:C:G p.(Ala295Pro) NC_000017.11:17221578:C:G Identity +NM_001165966.2:c.1370G>C NP_001159438.1:p.Arg457Pro NC_000017.11:6471306:C:G p.(Arg457Pro) NC_000017.11:6471306:C:G p.(Arg457Pro) NC_000017.11:6471306:C:G Identity +NM_000554.6:c.463dup NP_000545.1:p.Thr155fs NC_000019.10:47839529:A:AA p.(Thr155AsnfsTer19) NC_000019.10:47839529:A:AA p.(Thr155AsnfsTer19) ERR:SPDI Analogous +NM_001256850.1:c.96524A>T NP_001243779.1:p.Tyr32175Phe NC_000002.12:178535167:T:A p.(Tyr32175Phe) NC_000002.12:178535167:T:A p.(Tyr32175Phe) NC_000002.12:178535167:T:A Identity +NM_017617.5:c.2012C>A NP_060087.3:p.Thr671Lys NC_000009.12:136515291:G:T p.(Thr671Lys) NC_000009.12:136515291:G:T p.(Thr671Lys) NC_000009.12:136515291:G:T Identity +NM_001276503.2:c.26C>T NP_001263432.1:p.Ala9Val NC_000011.10:112086932:C:T p.(Ala9Val) NC_000011.10:112086932:C:T p.(Ala9Val) NC_000011.10:112086932:C:T Identity +NM_001301031.1:c.1139C>T NP_001287960.1:p.Thr380Ile NC_000015.10:65625218:C:T p.(Thr380Ile) NC_000015.10:65625218:C:T p.(Thr380Ile) NC_000015.10:65625218:C:T Identity +NM_000076.2:c.293G>A NP_000067.1:p.Gly98Glu NC_000011.10:2885196:C:T p.(Gly98Glu) NC_000011.10:2885196:C:T p.(Gly98Glu) NC_000011.10:2885196:C:T Identity +NM_001379500.1:c.1433G>T NP_001366429.1:p.Gly478Val NC_000021.9:45480500:G:T p.(Gly478Val) NC_000021.9:45480500:G:T p.(Gly478Val) NC_000021.9:45480500:G:T Identity +NM_001112808.3:c.1793A>G NP_001106279.3:p.Tyr598Cys NC_000001.11:74369407:A:G p.(Tyr598Cys) NC_000001.11:74369407:A:G p.(Tyr598Cys) NC_000001.11:74369407:A:G Identity +NM_001306079.2:c.4413C>G NP_001293008.1:p.Phe1471Leu NC_000002.12:27237755:C:G p.(Phe1471Leu) NC_000002.12:27237755:C:G p.(Phe1471Leu) NC_000002.12:27237755:C:G Identity +NM_001100112.2:c.431G>A NP_001093582.1:p.Arg144Gln NC_000017.11:10545419:C:T p.(Arg144Gln) NC_000017.11:10545419:C:T p.(Arg144Gln) NC_000017.11:10545419:C:T Identity +NM_001029883.3:c.2498C>T NP_001025054.1:p.Pro833Leu NC_000002.12:29071763:G:A p.(Pro833Leu) NC_000002.12:29071763:G:A p.(Pro833Leu) NC_000002.12:29071763:G:A Identity +NM_024577.4:c.483T>A NP_078853.2:p.Asp161Glu NC_000005.10:149042739:A:T p.(Asp161Glu) NC_000005.10:149042739:A:T p.(Asp161Glu) NC_000005.10:149042739:A:T Identity +NM_001130438.3:c.356C>T NP_001123910.1:p.Thr119Ile NC_000009.12:128568889:C:T p.(Thr119Ile) NC_000009.12:128568889:C:T p.(Thr119Ile) NC_000009.12:128568889:C:T Identity +NM_001304482.2:c.3727C>T NP_001291411.1:p.Arg1243Cys NC_000003.12:47412124:C:T p.(Arg1243Cys) NC_000003.12:47412124:C:T p.(Arg1243Cys) NC_000003.12:47412124:C:T Identity +NM_001081676.2:c.2181T>A NP_001075145.1:p.Phe727Leu NC_000002.12:165137941:A:T p.(Phe727Leu) NC_000002.12:165137941:A:T p.(Phe727Leu) NC_000002.12:165137941:A:T Identity +NM_001001290.2:c.682C>T NP_001001290.1:p.Arg228Cys NC_000004.12:9941957:G:A p.(Arg228Cys) NC_000004.12:9941957:G:A p.(Arg228Cys) NC_000004.12:9941957:G:A Identity +NM_000548.5:c.3557A>C NP_000539.2:p.Tyr1186Ser NC_000016.10:2080323:A:C p.(Tyr1186Ser) NC_000016.10:2080323:A:C p.(Tyr1186Ser) NC_000016.10:2080323:A:C Identity +NM_002291.3:c.2223G>T NP_002282.2:p.Glu741Asp NC_000007.14:107960535:C:A p.(Glu741Asp) NC_000007.14:107960535:C:A p.(Glu741Asp) NC_000007.14:107960535:C:A Identity +NM_000724.4:c.1424A>C NP_000715.2:p.His475Pro NC_000010.11:18539329:A:C p.(His475Pro) NC_000010.11:18539329:A:C p.(His475Pro) NC_000010.11:18539329:A:C Identity +NM_000179.3:c.2152A>T NP_000170.1:p.Ser718Cys NC_000002.12:47800134:A:T p.(Ser718Cys) NC_000002.12:47800134:A:T p.(Ser718Cys) NC_000002.12:47800134:A:T Identity +NM_000790.4:c.526C>T NP_000781.2:p.Gln176Ter NC_000007.14:50529251:G:A p.(Gln176Ter) NC_000007.14:50529251:G:A p.(Gln176Ter) NC_000007.14:50529251:G:A Identity +NM_003000.3:c.593G>T NP_002991.2:p.Ser198Ile NC_000001.11:17024021:C:A p.(Ser198Ile) NC_000001.11:17024021:C:A p.(Ser198Ile) NC_000001.11:17024021:C:A Identity +NM_001184751.2:c.1550G>A NP_001171680.1:p.Arg517His NC_000011.10:46705273:G:A p.(Arg517His) NC_000011.10:46705273:G:A p.(Arg517His) NC_000011.10:46705273:G:A Identity +NM_001080467.3:c.1630T>A NP_001073936.1:p.Ser544Thr NC_000018.10:49954350:A:T p.(Ser544Thr) NC_000018.10:49954350:A:T p.(Ser544Thr) NC_000018.10:49954350:A:T Identity +NM_001040108.2:c.82G>T NP_001035197.1:p.Glu28Ter NC_000014.9:75049573:C:A p.(Glu28Ter) NC_000014.9:75049573:C:A p.(Glu28Ter) NC_000014.9:75049573:C:A Identity +NM_001258214.1:c.398T>C NP_001245143.1:p.Ile133Thr NC_000001.11:67326767:T:C p.(Ile133Thr) NC_000001.11:67326767:T:C p.(Ile133Thr) NC_000001.11:67326767:T:C Identity +NM_004281.4:c.41C>T NP_004272.2:p.Ser14Phe NC_000010.11:119651715:C:T p.(Ser14Phe) NC_000010.11:119651715:C:T p.(Ser14Phe) NC_000010.11:119651715:C:T Identity +NM_020928.2:c.1455T>G NP_065979.1:p.His485Gln NC_000005.10:61521383:T:G p.(His485Gln) NC_000005.10:61521383:T:G p.(His485Gln) NC_000005.10:61521383:T:G Identity +NM_015180.6:c.10536C>A NP_055995.4:p.Asp3512Glu NC_000014.9:64070748:C:A p.(Asp3512Glu) NC_000014.9:64070748:C:A p.(Asp3512Glu) NC_000014.9:64070748:C:A Identity +NM_001351157.2:c.440G>A NP_001338086.1:p.Ser147Asn NC_000016.10:70772126:C:T p.(Ser147Asn) NC_000016.10:70772126:C:T p.(Ser147Asn) NC_000016.10:70772126:C:T Identity +NM_001407571.1:c.2084G>C NP_001394500.1:p.Ser695Thr NC_000017.11:43093233:C:G p.(Ser695Thr) NC_000017.11:43093233:C:G p.(Ser695Thr) NC_000017.11:43093233:C:G Identity +NM_001164097.2:c.5284GAG[1] NP_001157569.1:p.Glu1763del NC_000005.10:83541245:AGGAGGAG:AGGAG p.(Glu1763del) NC_000005.10:83541247:G:GAG ERR:Parse ERR:Parse Identity +NM_015072.5:c.2837G>A NP_055887.3:p.Cys946Tyr NC_000014.9:75783380:G:A p.(Cys946Tyr) NC_000014.9:75783380:G:A p.(Cys946Tyr) NC_000014.9:75783380:G:A Identity +NM_000092.5:c.2196del NP_000083.3:p.Phe732fs NC_000002.12:227059591:AAAA:AAA p.(Phe732LeufsTer21) NC_000002.12:227059591:AAAA:AAA p.(Phe732LeufsTer21) NC_000002.12:227059591:A: Analogous +NM_001127660.2:c.1432A>G NP_001121132.1:p.Met478Val NC_000001.11:12004863:A:G p.(Met478Val) NC_000001.11:12004863:A:G p.(Met478Val) NC_000001.11:12004863:A:G Identity +NM_001164507.2:c.21974A>G NP_001157979.2:p.Glu7325Gly NC_000002.12:151526233:T:C p.(Glu7325Gly) NC_000002.12:151526233:T:C p.(Glu7325Gly) NC_000002.12:151526233:T:C Identity +NM_001101362.3:c.572C>G NP_001094832.1:p.Ala191Gly NC_000015.10:65077386:C:G p.(Ala191Gly) NC_000015.10:65077386:C:G p.(Ala191Gly) NC_000015.10:65077386:C:G Identity +NM_001012759.3:c.997G>T NP_001012777.1:p.Asp333Tyr NC_000016.10:88713769:G:T p.(Asp333Tyr) NC_000016.10:88713769:G:T p.(Asp333Tyr) NC_000016.10:88713769:G:T Identity +NM_001345868.2:c.41C>G NP_001332797.1:p.Ala14Gly NC_000004.12:44678662:C:G p.(Ala14Gly) NC_000004.12:44678662:C:G p.(Ala14Gly) NC_000004.12:44678662:C:G Identity +NM_000026.4:c.245A>G NP_000017.1:p.Lys82Arg NC_000022.11:40349922:A:G p.(Lys82Arg) NC_000022.11:40349922:A:G p.(Lys82Arg) NC_000022.11:40349922:A:G Identity +NM_006231.4:c.4718T>C NP_006222.2:p.Leu1573Pro NC_000012.12:132642829:A:G p.(Leu1573Pro) NC_000012.12:132642829:A:G p.(Leu1573Pro) NC_000012.12:132642829:A:G Identity +NM_001256850.1:c.99137T>G NP_001243779.1:p.Leu33046Arg NC_000002.12:178532554:A:C p.(Leu33046Arg) NC_000002.12:178532554:A:C p.(Leu33046Arg) NC_000002.12:178532554:A:C Identity +NM_001346897.2:c.3015T>G NP_001333826.1:p.Ile1005Met NC_000007.14:55201769:T:G p.(Ile1005Met) NC_000007.14:55201769:T:G p.(Ile1005Met) NC_000007.14:55201769:T:G Identity +NM_000271.5:c.3053C>T NP_000262.2:p.Ala1018Val NC_000018.10:23536864:G:A p.(Ala1018Val) NC_000018.10:23536864:G:A p.(Ala1018Val) NC_000018.10:23536864:G:A Identity +NM_001320959.1:c.796A>G NP_001307888.1:p.Arg266Gly NC_000023.11:85911264:T:C p.(Arg266Gly) NC_000023.11:85911264:T:C p.(Arg266Gly) NC_000023.11:85911264:T:C Identity +NM_001207047.3:c.1555C>T NP_001193976.1:p.Leu519Phe NC_000020.11:3572761:C:T p.(Leu519Phe) NC_000020.11:3572761:C:T p.(Leu519Phe) NC_000020.11:3572761:C:T Identity +NM_001126336.3:c.1666G>A NP_001119808.1:p.Gly556Ser NC_000005.10:83579987:G:A p.(Gly556Ser) NC_000005.10:83579987:G:A p.(Gly556Ser) NC_000005.10:83579987:G:A Identity +NM_003737.4:c.7561A>G NP_003728.1:p.Ser2521Gly NC_000011.10:6624114:T:C p.(Ser2521Gly) NC_000011.10:6624114:T:C p.(Ser2521Gly) NC_000011.10:6624114:T:C Identity +NM_001318520.2:c.1709A>G NP_001305449.1:p.Tyr570Cys NC_000018.10:70075470:T:C p.(Tyr570Cys) NC_000018.10:70075470:T:C p.(Tyr570Cys) NC_000018.10:70075470:T:C Identity +NM_001160227.2:c.6919T>C NP_001153699.1:p.Phe2307Leu NC_000015.10:44563194:A:G p.(Phe2307Leu) NC_000015.10:44563194:A:G p.(Phe2307Leu) NC_000015.10:44563194:A:G Identity +NM_014510.3:c.230A>G NP_055325.2:p.Glu77Gly NC_000007.14:83162362:T:C p.(Glu77Gly) NC_000007.14:83162362:T:C p.(Glu77Gly) NC_000007.14:83162362:T:C Identity +NM_001177984.3:c.372A>G NP_001171455.1:p.Ile124Met NC_000012.12:51684268:A:G p.(Ile124Met) NC_000012.12:51684268:A:G p.(Ile124Met) NC_000012.12:51684268:A:G Identity +NM_001306090.2:c.1955G>A NP_001293019.1:p.Arg652His NC_000004.12:5797089:G:A p.(Arg652His) NC_000004.12:5797089:G:A p.(Arg652His) NC_000004.12:5797089:G:A Identity +NM_001261406.2:c.5729A>T NP_001248335.1:p.Gln1910Leu NC_000009.12:13110636:T:A p.(Gln1910Leu) NC_000009.12:13110636:T:A p.(Gln1910Leu) NC_000009.12:13110636:T:A Identity +NM_001206846.2:c.1801del NP_001193775.1:p.Arg601fs NC_000001.11:197142450:TTTT:TTT p.(Arg601GlufsTer20) NC_000001.11:197142450:TTTT:TTT p.(Arg601GlufsTer20) NC_000001.11:197142450:T: Analogous +NM_001142279.2:c.565G>T NP_001135751.1:p.Val189Leu NC_000013.11:50945480:G:T p.(Val189Leu) NC_000013.11:50945480:G:T p.(Val189Leu) NC_000013.11:50945480:G:T Identity +NM_001042410.2:c.1060C>T NP_001035869.1:p.Arg354Trp NC_000002.12:219234143:C:T p.(Arg354Trp) NC_000002.12:219234143:C:T p.(Arg354Trp) NC_000002.12:219234143:C:T Identity +NM_000701.8:c.1317C>A NP_000692.2:p.Asn439Lys NC_000001.11:116390875:C:A p.(Asn439Lys) NC_000001.11:116390875:C:A p.(Asn439Lys) NC_000001.11:116390875:C:A Identity +NM_005266.7:c.593T>C NP_005257.2:p.Val198Ala NC_000001.11:147758645:A:G p.(Val198Ala) NC_000001.11:147758645:A:G p.(Val198Ala) NC_000001.11:147758645:A:G Identity +NM_000593.6:c.1676G>T NP_000584.3:p.Gly559Val NC_000006.12:32847982:C:A p.(Gly559Val) NC_000006.12:32847982:C:A p.(Gly559Val) NC_000006.12:32847982:C:A Identity +NM_014845.6:c.1538del NP_055660.1:p.Gly513fs NC_000006.12:109765113:GGG:GG p.(Gly513AspfsTer2) NC_000006.12:109765113:GGG:GG p.(Gly513AspfsTer2) NC_000006.12:109765115:G: Analogous +NM_012327.6:c.414C>G NP_036459.1:p.Ser138Arg NC_000018.10:62157156:G:C p.(Ser138Arg) NC_000018.10:62157156:G:C p.(Ser138Arg) NC_000018.10:62157156:G:C Identity +NM_006204.4:c.2498AAG[1] NP_006195.3:p.Glu834del NC_000010.11:93663157:AAGAAG:AAG p.(Glu834del) NC_000010.11:93663157:A:AAG ERR:Parse ERR:Parse Identity +NM_001007097.3:c.1324G>T NP_001007098.1:p.Val442Leu NC_000009.12:84752012:G:T p.(Val442Leu) NC_000009.12:84752012:G:T p.(Val442Leu) NC_000009.12:84752012:G:T Identity +NM_001080.3:c.1475T>C NP_001071.1:p.Val492Ala NC_000006.12:24533578:T:C p.(Val492Ala) NC_000006.12:24533578:T:C p.(Val492Ala) NC_000006.12:24533578:T:C Identity +NM_001161357.2:c.1028C>T NP_001154829.1:p.Ser343Leu NC_000019.10:17776006:C:T p.(Ser343Leu) NC_000019.10:17776006:C:T p.(Ser343Leu) NC_000019.10:17776006:C:T Identity +NM_001318219.1:c.415A>G NP_001305148.1:p.Ser139Gly NC_000020.11:35479667:A:G p.(Ser139Gly) NC_000020.11:35479667:A:G p.(Ser139Gly) NC_000020.11:35479667:A:G Identity +NM_001190818.2:c.2394A>G NP_001177747.1:p.Ile798Met NC_000001.11:52373372:T:C p.(Ile798Met) NC_000001.11:52373372:T:C p.(Ile798Met) NC_000001.11:52373372:T:C Identity +NM_000271.5:c.3178C>T NP_000262.2:p.Leu1060Phe NC_000018.10:23536739:G:A p.(Leu1060Phe) NC_000018.10:23536739:G:A p.(Leu1060Phe) NC_000018.10:23536739:G:A Identity +NM_003906.5:c.2257C>T NP_003897.2:p.Arg753Trp NC_000021.9:46272768:G:A p.(Arg753Trp) NC_000021.9:46272768:G:A p.(Arg753Trp) NC_000021.9:46272768:G:A Identity +NM_001111125.3:c.356G>T NP_001104595.1:p.Arg119Leu NC_000023.11:53320767:C:A p.(Arg119Leu) NC_000023.11:53320767:C:A p.(Arg119Leu) NC_000023.11:53320767:C:A Identity +NM_001031689.3:c.1042A>G NP_001026859.1:p.Thr348Ala NC_000009.12:26920381:T:C p.(Thr348Ala) NC_000009.12:26920381:T:C p.(Thr348Ala) NC_000009.12:26920381:T:C Identity +NM_001126131.2:c.2444G>T NP_001119603.1:p.Trp815Leu NC_000015.10:89321997:C:A p.(Trp815Leu) NC_000015.10:89321997:C:A p.(Trp815Leu) NC_000015.10:89321997:C:A Identity +NM_000051.4:c.2162T>G NP_000042.3:p.Leu721Arg NC_000011.10:108256251:T:G p.(Leu721Arg) NC_000011.10:108256251:T:G p.(Leu721Arg) NC_000011.10:108256251:T:G Identity +NM_004304.5:c.2442G>T NP_004295.2:p.Trp814Cys NC_000002.12:29233609:C:A p.(Trp814Cys) NC_000002.12:29233609:C:A p.(Trp814Cys) NC_000002.12:29233609:C:A Identity +NM_001166588.3:c.25G>A NP_001160060.1:p.Ala9Thr NC_000001.11:44981143:C:T p.(Ala9Thr) NC_000001.11:44981143:C:T p.(Ala9Thr) NC_000001.11:44981143:C:T Identity +NM_001018037.2:c.2140dup NP_001018047.1:p.Thr714fs NC_000009.12:77250198:A:AA p.(Thr714AsnfsTer9) NC_000009.12:77250198:A:AA p.(Thr714AsnfsTer9) ERR:SPDI Analogous +NM_001385907.1:c.1364A>C NP_001372836.1:p.Gln455Pro NC_000009.12:32487475:T:G p.(Gln455Pro) NC_000009.12:32487475:T:G p.(Gln455Pro) NC_000009.12:32487475:T:G Identity +NM_001379277.1:c.4354C>T NP_001366206.1:p.Arg1452Trp NC_000007.14:92095152:C:T p.(Arg1452Trp) NC_000007.14:92095152:C:T p.(Arg1452Trp) NC_000007.14:92095152:C:T Identity +NM_144643.4:c.992T>C NP_653244.2:p.Val331Ala NC_000004.12:128959654:A:G p.(Val331Ala) NC_000004.12:128959654:A:G p.(Val331Ala) NC_000004.12:128959654:A:G Identity +NM_001384407.1:c.1267C>T NP_001371336.1:p.Arg423Trp NC_000019.10:17781719:C:T p.(Arg423Trp) NC_000019.10:17781719:C:T p.(Arg423Trp) NC_000019.10:17781719:C:T Identity +NM_001372305.1:c.463G>A NP_001359234.1:p.Gly155Ser NC_000019.10:50328391:C:T p.(Gly155Ser) NC_000019.10:50328391:C:T p.(Gly155Ser) NC_000019.10:50328391:C:T Identity +NM_001135597.2:c.5483G>A NP_001129069.1:p.Ser1828Asn NC_000002.12:55295661:C:T p.(Ser1828Asn) NC_000002.12:55295661:C:T p.(Ser1828Asn) NC_000002.12:55295661:C:T Identity +NM_001282279.2:c.86A>T NP_001269208.1:p.Lys29Met NC_000017.11:81936174:T:A p.(Lys29Met) NC_000017.11:81936174:T:A p.(Lys29Met) NC_000017.11:81936174:T:A Identity +NM_032119.4:c.7054G>A NP_115495.3:p.Val2352Ile NC_000005.10:90692706:G:A p.(Val2352Ile) NC_000005.10:90692706:G:A p.(Val2352Ile) NC_000005.10:90692706:G:A Identity +NM_000370.3:c.192C>A NP_000361.1:p.Asp64Glu NC_000008.11:63085829:G:T p.(Asp64Glu) NC_000008.11:63085829:G:T p.(Asp64Glu) NC_000008.11:63085829:G:T Identity +NM_020433.5:c.349_351del NP_065166.2:p.Gly117del NC_000020.11:44186354:GCCG:G p.(Gly117del) NC_000020.11:44186354:GCCG:G p.(Gly117del) NC_000020.11:44186354:GCC: Identity +NM_001244008.2:c.3779G>A NP_001230937.1:p.Gly1260Glu NC_000002.12:240740334:C:T p.(Gly1260Glu) NC_000002.12:240740334:C:T p.(Gly1260Glu) NC_000002.12:240740334:C:T Identity +NM_001184.4:c.3259T>C NP_001175.2:p.Tyr1087His NC_000003.12:142547822:A:G p.(Tyr1087His) NC_000003.12:142547822:A:G p.(Tyr1087His) NC_000003.12:142547822:A:G Identity +NM_001304418.3:c.1397G>A NP_001291347.1:p.Ser466Asn NC_000003.12:69118957:C:T p.(Ser466Asn) NC_000003.12:69118957:C:T p.(Ser466Asn) NC_000003.12:69118957:C:T Identity +NM_001242581.2:c.7G>T NP_001229510.1:p.Asp3Tyr NC_000020.11:19886675:G:T p.(Asp3Tyr) NC_000020.11:19886675:G:T p.(Asp3Tyr) NC_000020.11:19886675:G:T Identity +NM_005236.3:c.2143G>T NP_005227.1:p.Asp715Tyr NC_000016.10:13947738:G:T p.(Asp715Tyr) NC_000016.10:13947738:G:T p.(Asp715Tyr) NC_000016.10:13947738:G:T Identity +NM_000243.3:c.985C>T NP_000234.1:p.Arg329Cys NC_000016.10:3249705:G:A p.(Arg329Cys) NC_000016.10:3249705:G:A p.(Arg329Cys) NC_000016.10:3249705:G:A Identity +NM_000033.4:c.1823G>C NP_000024.2:p.Gly608Ala NC_000023.11:153743028:G:C p.(Gly608Ala) NC_000023.11:153743028:G:C p.(Gly608Ala) NC_000023.11:153743028:G:C Identity +NM_006516.4:c.388G>T NP_006507.2:p.Gly130Cys NC_000001.11:42930753:C:A p.(Gly130Cys) NC_000001.11:42930753:C:A p.(Gly130Cys) NC_000001.11:42930753:C:A Identity +NM_000497.4:c.520A>T NP_000488.3:p.Lys174Ter NC_000008.11:142877097:T:A p.(Lys174Ter) NC_000008.11:142877097:T:A p.(Lys174Ter) NC_000008.11:142877097:T:A Identity +NM_138694.4:c.9269A>G NP_619639.3:p.Asn3090Ser NC_000006.12:51748346:T:C p.(Asn3090Ser) NC_000006.12:51748346:T:C p.(Asn3090Ser) NC_000006.12:51748346:T:C Identity +NM_001999.4:c.4770T>G NP_001990.2:p.Ser1590Arg NC_000005.10:128312742:A:C p.(Ser1590Arg) NC_000005.10:128312742:A:C p.(Ser1590Arg) NC_000005.10:128312742:A:C Identity +NM_173630.4:c.406A>G NP_775901.3:p.Lys136Glu NC_000018.10:70201974:T:C p.(Lys136Glu) NC_000018.10:70201974:T:C p.(Lys136Glu) NC_000018.10:70201974:T:C Identity +NM_001256545.2:c.2566A>T NP_001243474.1:p.Ile856Phe NC_000005.10:127445530:A:T p.(Ile856Phe) NC_000005.10:127445530:A:T p.(Ile856Phe) NC_000005.10:127445530:A:T Identity +NM_001388492.1:c.619G>C NP_001375421.1:p.Val207Leu NC_000004.12:3107294:G:C p.(Val207Leu) NC_000004.12:3107294:G:C p.(Val207Leu) NC_000004.12:3107294:G:C Identity +NM_000445.5:c.1829C>T NP_000436.2:p.Ser610Phe NC_000008.11:143932701:G:A p.(Ser610Phe) NC_000008.11:143932701:G:A p.(Ser610Phe) NC_000008.11:143932701:G:A Identity +NM_000240.4:c.1153G>A NP_000231.1:p.Glu385Lys NC_000023.11:43740726:G:A p.(Glu385Lys) NC_000023.11:43740726:G:A p.(Glu385Lys) NC_000023.11:43740726:G:A Identity +NM_000088.4:c.3304C>T NP_000079.2:p.Gln1102Ter NC_000017.11:50187940:G:A p.(Gln1102Ter) NC_000017.11:50187940:G:A p.(Gln1102Ter) NC_000017.11:50187940:G:A Identity +NM_000264.5:c.2009C>T NP_000255.2:p.Pro670Leu NC_000009.12:95468991:G:A p.(Pro670Leu) NC_000009.12:95468991:G:A p.(Pro670Leu) NC_000009.12:95468991:G:A Identity +NM_001136191.3:c.1334G>A NP_001129663.1:p.Gly445Asp NC_000019.10:11178635:C:T p.(Gly445Asp) NC_000019.10:11178635:C:T p.(Gly445Asp) NC_000019.10:11178635:C:T Identity +NM_001195573.1:c.2450C>A NP_001182502.1:p.Pro817His NC_000014.9:95108079:G:T p.(Pro817His) NC_000014.9:95108079:G:T p.(Pro817His) NC_000014.9:95108079:G:T Identity +NM_017671.5:c.1183A>T NP_060141.3:p.Ile395Phe NC_000020.11:6089045:T:A p.(Ile395Phe) NC_000020.11:6089045:T:A p.(Ile395Phe) NC_000020.11:6089045:T:A Identity +NM_001277971.2:c.110G>C NP_001264900.1:p.Cys37Ser NC_000008.11:43103657:G:C p.(Cys37Ser) NC_000008.11:43103657:G:C p.(Cys37Ser) NC_000008.11:43103657:G:C Identity +NM_006361.6:c.46G>A NP_006352.2:p.Glu16Lys NC_000017.11:48728547:C:T p.(Glu16Lys) NC_000017.11:48728547:C:T p.(Glu16Lys) NC_000017.11:48728547:C:T Identity +NM_002386.4:c.562G>A NP_002377.4:p.Val188Ile NC_000016.10:89919819:G:A p.(Val188Ile) NC_000016.10:89919819:G:A p.(Val188Ile) NC_000016.10:89919819:G:A Identity +NM_001278727.2:c.175T>G NP_001265656.1:p.Ser59Ala NC_000019.10:19194120:T:G p.(Ser59Ala) NC_000019.10:19194120:T:G p.(Ser59Ala) NC_000019.10:19194120:T:G Identity +NM_000098.3:c.1327A>G NP_000089.1:p.Ile443Val NC_000001.11:53211000:A:G p.(Ile443Val) NC_000001.11:53211000:A:G p.(Ile443Val) NC_000001.11:53211000:A:G Identity +NM_000090.4:c.2078G>T NP_000081.2:p.Gly693Val NC_000002.12:188999339:G:T p.(Gly693Val) NC_000002.12:188999339:G:T p.(Gly693Val) NC_000002.12:188999339:G:T Identity +NM_001256850.1:c.100264G>A NP_001243779.1:p.Ala33422Thr NC_000002.12:178531427:C:T p.(Ala33422Thr) NC_000002.12:178531427:C:T p.(Ala33422Thr) NC_000002.12:178531427:C:T Identity +NM_000051.4:c.431T>G NP_000042.3:p.Ile144Arg NC_000011.10:108235768:T:G p.(Ile144Arg) NC_000011.10:108235768:T:G p.(Ile144Arg) NC_000011.10:108235768:T:G Identity +NM_000540.3:c.14016T>A NP_000531.2:p.Phe4672Leu NC_000019.10:38573193:T:A p.(Phe4672Leu) NC_000019.10:38573193:T:A p.(Phe4672Leu) NC_000019.10:38573193:T:A Identity +NM_000052.7:c.406G>A NP_000043.4:p.Ala136Thr NC_000023.11:77988526:G:A p.(Ala136Thr) NC_000023.11:77988526:G:A p.(Ala136Thr) NC_000023.11:77988526:G:A Identity +NM_001370136.1:c.1874T>G NP_001357065.1:p.Phe625Cys NC_000010.11:74976210:T:G p.(Phe625Cys) NC_000010.11:74976210:T:G p.(Phe625Cys) NC_000010.11:74976210:T:G Identity +NM_001270459.2:c.412G>A NP_001257388.1:p.Ala138Thr NC_000001.11:43898248:G:A p.(Ala138Thr) NC_000001.11:43898248:G:A p.(Ala138Thr) NC_000001.11:43898248:G:A Identity +NM_000170.3:c.1951C>G NP_000161.2:p.His651Asp NC_000009.12:6558659:G:C p.(His651Asp) NC_000009.12:6558659:G:C p.(His651Asp) NC_000009.12:6558659:G:C Identity +NM_000263.4:c.2191T>C NP_000254.2:p.Phe731Leu NC_000017.11:42544196:T:C p.(Phe731Leu) NC_000017.11:42544196:T:C p.(Phe731Leu) NC_000017.11:42544196:T:C Identity +NM_020778.5:c.3950G>A NP_065829.4:p.Gly1317Asp NC_000015.10:84859374:G:A p.(Gly1317Asp) NC_000015.10:84859374:G:A p.(Gly1317Asp) NC_000015.10:84859374:G:A Identity +NM_080679.3:c.3215C>G NP_542410.2:p.Pro1072Arg NC_000006.12:33170371:G:C p.(Pro1072Arg) NC_000006.12:33170371:G:C p.(Pro1072Arg) NC_000006.12:33170371:G:C Identity +NM_002334.4:c.4937G>T NP_002325.2:p.Arg1646Leu NC_000011.10:46868613:C:A p.(Arg1646Leu) NC_000011.10:46868613:C:A p.(Arg1646Leu) NC_000011.10:46868613:C:A Identity +NM_025114.4:c.6847G>A NP_079390.3:p.Glu2283Lys NC_000012.12:88055688:C:T p.(Glu2283Lys) NC_000012.12:88055688:C:T p.(Glu2283Lys) NC_000012.12:88055688:C:T Identity +NM_002439.5:c.2834T>C NP_002430.3:p.Ile945Thr NC_000005.10:80854149:T:C p.(Ile945Thr) NC_000005.10:80854149:T:C p.(Ile945Thr) NC_000005.10:80854149:T:C Identity +NM_015909.4:c.877G>A NP_056993.2:p.Val293Ile NC_000002.12:15511219:C:T p.(Val293Ile) NC_000002.12:15511219:C:T p.(Val293Ile) NC_000002.12:15511219:C:T Identity +NM_000054.7:c.674A>C NP_000045.1:p.Gln225Pro NC_000023.11:153906179:A:C p.(Gln225Pro) NC_000023.11:153906179:A:C p.(Gln225Pro) NC_000023.11:153906179:A:C Identity +NM_001377292.1:c.73dup NP_001364221.1:p.Ser25fs NC_000003.12:192335404:T:TT p.(Ser25LysfsTer9) NC_000003.12:192335404:T:TT p.(Ser25LysfsTer9) ERR:SPDI Analogous +NM_001379500.1:c.2822C>G NP_001366429.1:p.Pro941Arg NC_000021.9:45504509:C:G p.(Pro941Arg) NC_000021.9:45504509:C:G p.(Pro941Arg) NC_000021.9:45504509:C:G Identity +NM_001008844.3:c.2510A>C NP_001008844.1:p.Gln837Pro NC_000006.12:7575367:A:C p.(Gln837Pro) NC_000006.12:7575367:A:C p.(Gln837Pro) NC_000006.12:7575367:A:C Identity +NM_001385907.1:c.2021C>T NP_001372836.1:p.Pro674Leu NC_000009.12:32467919:G:A p.(Pro674Leu) NC_000009.12:32467919:G:A p.(Pro674Leu) NC_000009.12:32467919:G:A Identity +NM_000816.3:c.185C>T NP_000807.2:p.Pro62Leu NC_000005.10:162093904:C:T p.(Pro62Leu) NC_000005.10:162093904:C:T p.(Pro62Leu) NC_000005.10:162093904:C:T Identity +NM_005732.4:c.1383G>T NP_005723.2:p.Lys461Asn NC_000005.10:132589767:G:T p.(Lys461Asn) NC_000005.10:132589767:G:T p.(Lys461Asn) NC_000005.10:132589767:G:T Identity +NM_000065.5:c.2605G>A NP_000056.2:p.Asp869Asn NC_000005.10:41149258:C:T p.(Asp869Asn) NC_000005.10:41149258:C:T p.(Asp869Asn) NC_000005.10:41149258:C:T Identity +NM_001385640.1:c.1266C>G NP_001372569.1:p.His422Gln NC_000001.11:941210:C:G p.(His422Gln) NC_000001.11:941210:C:G p.(His422Gln) NC_000001.11:941210:C:G Identity +NM_052876.4:c.602G>A NP_443108.1:p.Arg201His NC_000019.10:13135808:G:A p.(Arg201His) NC_000019.10:13135808:G:A p.(Arg201His) NC_000019.10:13135808:G:A Identity +NM_001024858.4:c.629C>A NP_001020029.1:p.Ala210Asp NC_000014.9:64801771:G:T p.(Ala210Asp) NC_000014.9:64801771:G:T p.(Ala210Asp) NC_000014.9:64801771:G:T Identity +NM_001388492.1:c.8753C>G NP_001375421.1:p.Ala2918Gly NC_000004.12:3235745:C:G p.(Ala2918Gly) NC_000004.12:3235745:C:G p.(Ala2918Gly) NC_000004.12:3235745:C:G Identity +NM_006192.5:c.1454G>A NP_006183.2:p.Gly485Asp NC_000020.11:21714651:G:A p.(Gly485Asp) NC_000020.11:21714651:G:A p.(Gly485Asp) NC_000020.11:21714651:G:A Identity +NM_001142401.3:c.370A>C NP_001135873.1:p.Lys124Gln NC_000006.12:109370428:T:G p.(Lys124Gln) NC_000006.12:109370428:T:G p.(Lys124Gln) NC_000006.12:109370428:T:G Identity +NM_001256959.2:c.263T>C NP_001243888.2:p.Phe88Ser NC_000001.11:11819536:T:C p.(Phe88Ser) NC_000001.11:11819536:T:C p.(Phe88Ser) NC_000001.11:11819536:T:C Identity +NM_015909.4:c.3833A>T NP_056993.2:p.Glu1278Val NC_000002.12:15356400:T:A p.(Glu1278Val) NC_000002.12:15356400:T:A p.(Glu1278Val) NC_000002.12:15356400:T:A Identity +NM_032119.4:c.3947A>T NP_115495.3:p.Gln1316Leu NC_000005.10:90653520:A:T p.(Gln1316Leu) NC_000005.10:90653520:A:T p.(Gln1316Leu) NC_000005.10:90653520:A:T Identity +NM_022132.5:c.1623G>T NP_071415.1:p.Leu541Phe NC_000005.10:71656790:G:T p.(Leu541Phe) NC_000005.10:71656790:G:T p.(Leu541Phe) NC_000005.10:71656790:G:T Identity +NM_004706.4:c.287T>C NP_004697.2:p.Phe96Ser NC_000019.10:41892085:T:C p.(Phe96Ser) NC_000019.10:41892085:T:C p.(Phe96Ser) NC_000019.10:41892085:T:C Identity +NM_000179.3:c.3687T>A NP_000170.1:p.Asn1229Lys NC_000002.12:47806243:T:A p.(Asn1229Lys) NC_000002.12:47806243:T:A p.(Asn1229Lys) NC_000002.12:47806243:T:A Identity +NM_002087.4:c.796G>C NP_002078.1:p.Ala266Pro NC_000017.11:44351123:G:C p.(Ala266Pro) NC_000017.11:44351123:G:C p.(Ala266Pro) NC_000017.11:44351123:G:C Identity +NM_000390.4:c.1029G>T NP_000381.1:p.Met343Ile NC_000023.11:85956289:C:A p.(Met343Ile) NC_000023.11:85956289:C:A p.(Met343Ile) NC_000023.11:85956289:C:A Identity +NM_031935.3:c.11447T>A NP_114141.2:p.Ile3816Lys NC_000001.11:186115299:T:A p.(Ile3816Lys) NC_000001.11:186115299:T:A p.(Ile3816Lys) NC_000001.11:186115299:T:A Identity +NM_002894.3:c.446A>G NP_002885.1:p.Gln149Arg NC_000018.10:22982234:A:G p.(Gln149Arg) NC_000018.10:22982234:A:G p.(Gln149Arg) NC_000018.10:22982234:A:G Identity +NM_001131024.2:c.133C>T NP_001124496.1:p.Pro45Ser NC_000012.12:7190509:C:T p.(Pro45Ser) NC_000012.12:7190509:C:T p.(Pro45Ser) NC_000012.12:7190509:C:T Identity +NM_000485.3:c.292T>C NP_000476.1:p.Trp98Arg NC_000016.10:88810451:A:G p.(Trp98Arg) NC_000016.10:88810451:A:G p.(Trp98Arg) NC_000016.10:88810451:A:G Identity +NM_173560.4:c.143C>G NP_775831.2:p.Ala48Gly NC_000006.12:116877417:C:G p.(Ala48Gly) NC_000006.12:116877417:C:G p.(Ala48Gly) NC_000006.12:116877417:C:G Identity +NM_001377273.1:c.21dup NP_001364202.1:p.Asn8Ter NC_000012.12:21936653:A:AA p.(Asn8Ter) NC_000012.12:21936653:A:AA p.(Asn8Ter) ERR:SPDI Identity +NM_001244008.2:c.2215G>C NP_001230937.1:p.Ala739Pro NC_000002.12:240761278:C:G p.(Ala739Pro) NC_000002.12:240761278:C:G p.(Ala739Pro) NC_000002.12:240761278:C:G Identity +NM_006946.4:c.6826G>A NP_008877.2:p.Val2276Ile NC_000011.10:66687063:C:T p.(Val2276Ile) NC_000011.10:66687063:C:T p.(Val2276Ile) NC_000011.10:66687063:C:T Identity +NM_001005407.2:c.4327A>C NP_001005407.1:p.Ile1443Leu NC_000016.10:1211270:A:C p.(Ile1443Leu) NC_000016.10:1211270:A:C p.(Ile1443Leu) NC_000016.10:1211270:A:C Identity +NM_001374871.1:c.766C>G NP_001361800.1:p.Arg256Gly NC_000016.10:69335167:G:C p.(Arg256Gly) NC_000016.10:69335167:G:C p.(Arg256Gly) NC_000016.10:69335167:G:C Identity +NM_004525.3:c.13469G>A NP_004516.2:p.Gly4490Glu NC_000002.12:169138625:C:T p.(Gly4490Glu) NC_000002.12:169138625:C:T p.(Gly4490Glu) NC_000002.12:169138625:C:T Identity +NM_000832.7:c.1483AAG[1] NP_000823.4:p.Lys496del NC_000009.12:137161938:AAGAAG:AAG p.(Lys496del) NC_000009.12:137161938:A:AAG ERR:Parse ERR:Parse Identity +NM_001077397.1:c.640G>A NP_001070865.1:p.Ala214Thr NC_000001.11:234608854:C:T p.(Ala214Thr) NC_000001.11:234608854:C:T p.(Ala214Thr) NC_000001.11:234608854:C:T Identity +NM_000073.3:c.245G>A NP_000064.1:p.Arg82Gln NC_000011.10:118349907:G:A p.(Arg82Gln) NC_000011.10:118349907:G:A p.(Arg82Gln) NC_000011.10:118349907:G:A Identity +NM_000455.5:c.1171T>G NP_000446.1:p.Cys391Gly NC_000019.10:1226515:T:G p.(Cys391Gly) NC_000019.10:1226515:T:G p.(Cys391Gly) NC_000019.10:1226515:T:G Identity +NM_001308170.1:c.31G>A NP_001295099.1:p.Ala11Thr NC_000001.11:109621137:G:A p.(Ala11Thr) NC_000001.11:109621137:G:A p.(Ala11Thr) NC_000001.11:109621137:G:A Identity +NM_001362843.2:c.6209A>G NP_001349772.1:p.Asn2070Ser NC_000022.11:41177997:A:G p.(Asn2070Ser) NC_000022.11:41177997:A:G p.(Asn2070Ser) NC_000022.11:41177997:A:G Identity +NM_001282933.2:c.1813C>T NP_001269862.1:p.Arg605Trp NC_000020.11:33783824:C:T p.(Arg605Trp) NC_000020.11:33783824:C:T p.(Arg605Trp) NC_000020.11:33783824:C:T Identity +NM_001077182.3:c.1489G>T NP_001070650.1:p.Ala497Ser NC_000017.11:81537017:G:T p.(Ala497Ser) NC_000017.11:81537017:G:T p.(Ala497Ser) NC_000017.11:81537017:G:T Identity +NM_024700.4:c.500G>A NP_078976.2:p.Arg167Gln NC_000001.11:37540582:C:T p.(Arg167Gln) NC_000001.11:37540582:C:T p.(Arg167Gln) NC_000001.11:37540582:C:T Identity +NM_001272003.2:c.2689C>G NP_001258932.1:p.Leu897Val NC_000009.12:135779452:C:G p.(Leu897Val) NC_000009.12:135779452:C:G p.(Leu897Val) NC_000009.12:135779452:C:G Identity +NM_000320.3:c.425A>G NP_000311.2:p.Asp142Gly NC_000004.12:17501729:T:C p.(Asp142Gly) NC_000004.12:17501729:T:C p.(Asp142Gly) NC_000004.12:17501729:T:C Identity +NM_001308122.2:c.1469G>C NP_001295051.1:p.Ser490Thr NC_000005.10:132392561:G:C p.(Ser490Thr) NC_000005.10:132392561:G:C p.(Ser490Thr) NC_000005.10:132392561:G:C Identity +NM_024753.5:c.550A>G NP_079029.3:p.Lys184Glu NC_000002.12:165943220:T:C p.(Lys184Glu) NC_000002.12:165943220:T:C p.(Lys184Glu) NC_000002.12:165943220:T:C Identity +NM_001261406.2:c.2986A>C NP_001248335.1:p.Met996Leu NC_000009.12:13175820:T:G p.(Met996Leu) NC_000009.12:13175820:T:G p.(Met996Leu) NC_000009.12:13175820:T:G Identity +NM_001318245.2:c.3415C>T NP_001305174.1:p.Pro1139Ser NC_000022.11:25846142:C:T p.(Pro1139Ser) NC_000022.11:25846142:C:T p.(Pro1139Ser) NC_000022.11:25846142:C:T Identity +NM_015662.3:c.2310C>G NP_056477.1:p.Ile770Met NC_000002.12:27461400:G:C p.(Ile770Met) NC_000002.12:27461400:G:C p.(Ile770Met) NC_000002.12:27461400:G:C Identity +NM_001146.5:c.946A>G NP_001137.2:p.Asn316Asp NC_000008.11:107294027:T:C p.(Asn316Asp) NC_000008.11:107294027:T:C p.(Asn316Asp) NC_000008.11:107294027:T:C Identity +NM_001379500.1:c.3077C>G NP_001366429.1:p.Ala1026Gly NC_000021.9:45505420:C:G p.(Ala1026Gly) NC_000021.9:45505420:C:G p.(Ala1026Gly) NC_000021.9:45505420:C:G Identity +NM_001330677.2:c.1334C>G NP_001317606.1:p.Ser445Cys NC_000001.11:118885206:G:C p.(Ser445Cys) NC_000001.11:118885206:G:C p.(Ser445Cys) NC_000001.11:118885206:G:C Identity +NM_000395.3:c.1516G>A NP_000386.1:p.Gly506Arg NC_000022.11:36936599:G:A p.(Gly506Arg) NC_000022.11:36936599:G:A p.(Gly506Arg) NC_000022.11:36936599:G:A Identity +NM_001206927.2:c.13445T>C NP_001193856.1:p.Met4482Thr NC_000006.12:39012287:T:C p.(Met4482Thr) NC_000006.12:39012287:T:C p.(Met4482Thr) NC_000006.12:39012287:T:C Identity +NM_001177984.3:c.1229T>C NP_001171455.1:p.Val410Ala NC_000012.12:51705510:T:C p.(Val410Ala) NC_000012.12:51705510:T:C p.(Val410Ala) NC_000012.12:51705510:T:C Identity +NM_000186.4:c.5G>C NP_000177.2:p.Arg2Thr NC_000001.11:196652121:G:C p.(Arg2Thr) NC_000001.11:196652121:G:C p.(Arg2Thr) NC_000001.11:196652121:G:C Identity +NM_001303245.3:c.1931C>T NP_001290174.1:p.Pro644Leu NC_000003.12:141586749:C:T p.(Pro644Leu) NC_000003.12:141586749:C:T p.(Pro644Leu) NC_000003.12:141586749:C:T Identity +NM_001365819.1:c.3883G>A NP_001352748.1:p.Val1295Met NC_000022.11:50456619:C:T p.(Val1295Met) NC_000022.11:50456619:C:T p.(Val1295Met) NC_000022.11:50456619:C:T Identity +NM_001079812.3:c.2156C>T NP_001073280.1:p.Pro719Leu NC_000005.10:141573666:G:A p.(Pro719Leu) NC_000005.10:141573666:G:A p.(Pro719Leu) NC_000005.10:141573666:G:A Identity +NM_001008844.3:c.2188C>T NP_001008844.1:p.Leu730Phe NC_000006.12:7574142:C:T p.(Leu730Phe) NC_000006.12:7574142:C:T p.(Leu730Phe) NC_000006.12:7574142:C:T Identity +NM_000109.4:c.5019G>A NP_000100.3:p.Met1673Ile NC_000023.11:32364692:C:T p.(Met1673Ile) NC_000023.11:32364692:C:T p.(Met1673Ile) NC_000023.11:32364692:C:T Identity +NM_001079802.2:c.322A>G NP_001073270.1:p.Arg108Gly NC_000009.12:105601300:A:G p.(Arg108Gly) NC_000009.12:105601300:A:G p.(Arg108Gly) NC_000009.12:105601300:A:G Identity +NM_000035.4:c.517C>T NP_000026.2:p.Arg173Cys NC_000009.12:101427504:G:A p.(Arg173Cys) NC_000009.12:101427504:G:A p.(Arg173Cys) NC_000009.12:101427504:G:A Identity +NM_001040108.2:c.1170C>G NP_001035197.1:p.Phe390Leu NC_000014.9:75048485:G:C p.(Phe390Leu) NC_000014.9:75048485:G:C p.(Phe390Leu) NC_000014.9:75048485:G:C Identity +NM_058216.3:c.1094C>A NP_478123.1:p.Thr365Asn NC_000017.11:58734184:C:A p.(Thr365Asn) NC_000017.11:58734184:C:A p.(Thr365Asn) NC_000017.11:58734184:C:A Identity +NM_000550.3:c.1314C>A NP_000541.1:p.Tyr438Ter NC_000009.12:12708048:C:A p.(Tyr438Ter) NC_000009.12:12708048:C:A p.(Tyr438Ter) NC_000009.12:12708048:C:A Identity +NM_001005407.2:c.5591C>T NP_001005407.1:p.Ala1864Val NC_000016.10:1218372:C:T p.(Ala1864Val) NC_000016.10:1218372:C:T p.(Ala1864Val) NC_000016.10:1218372:C:T Identity +NM_001256560.2:c.640G>A NP_001243489.1:p.Val214Ile NC_000003.12:58193413:C:T p.(Val214Ile) NC_000003.12:58193413:C:T p.(Val214Ile) NC_000003.12:58193413:C:T Identity +NM_004369.4:c.4310T>C NP_004360.2:p.Ile1437Thr NC_000002.12:237369152:A:G p.(Ile1437Thr) NC_000002.12:237369152:A:G p.(Ile1437Thr) NC_000002.12:237369152:A:G Identity +NM_001271937.2:c.725_728del NP_001258866.1:p.Leu242fs NC_000006.12:151405798:GTTAGTT:GTT p.(Leu242GlnfsTer3) NC_000006.12:151405798:GTTAGTT:GTT p.(Leu242GlnfsTer3) NC_000006.12:151405798:GTTA: Analogous +NM_001346754.2:c.295C>T NP_001333683.1:p.Arg99Ter NC_000017.11:36537395:C:T p.(Arg99Ter) NC_000017.11:36537395:C:T p.(Arg99Ter) NC_000017.11:36537395:C:T Identity +NM_000719.7:c.4949C>G NP_000710.5:p.Ser1650Cys NC_000012.12:2677213:C:G p.(Ser1650Cys) NC_000012.12:2677213:C:G p.(Ser1650Cys) NC_000012.12:2677213:C:G Identity +NM_004982.4:c.676C>T NP_004973.1:p.Arg226Cys NC_000012.12:21766321:G:A p.(Arg226Cys) NC_000012.12:21766321:G:A p.(Arg226Cys) NC_000012.12:21766321:G:A Identity +NM_001128227.3:c.1111C>T NP_001121699.1:p.Gln371Ter NC_000009.12:36229072:G:A p.(Gln371Ter) NC_000009.12:36229072:G:A p.(Gln371Ter) NC_000009.12:36229072:G:A Identity +NM_015192.4:c.3059G>A NP_056007.1:p.Arg1020Gln NC_000020.11:8774666:G:A p.(Arg1020Gln) NC_000020.11:8774666:G:A p.(Arg1020Gln) NC_000020.11:8774666:G:A Identity +NM_000425.5:c.2999G>A NP_000416.1:p.Gly1000Asp NC_000023.11:153864867:C:T p.(Gly1000Asp) NC_000023.11:153864867:C:T p.(Gly1000Asp) NC_000023.11:153864867:C:T Identity +NM_018670.4:c.244G>C NP_061140.1:p.Gly82Arg NC_000015.10:89750987:C:G p.(Gly82Arg) NC_000015.10:89750987:C:G p.(Gly82Arg) NC_000015.10:89750987:C:G Identity +NM_014639.4:c.3183A>T NP_055454.1:p.Leu1061Phe NC_000005.10:95503847:T:A p.(Leu1061Phe) NC_000005.10:95503847:T:A p.(Leu1061Phe) NC_000005.10:95503847:T:A Identity +NM_015180.6:c.8626A>C NP_055995.4:p.Thr2876Pro NC_000014.9:64052538:A:C p.(Thr2876Pro) NC_000014.9:64052538:A:C p.(Thr2876Pro) NC_000014.9:64052538:A:C Identity +NM_000378.6:c.471C>G NP_000369.4:p.His157Gln NC_000011.10:32434889:G:C p.(His157Gln) NC_000011.10:32434889:G:C p.(His157Gln) NC_000011.10:32434889:G:C Identity +NM_000036.3:c.236G>A NP_000027.3:p.Arg79Gln NC_000001.11:114686889:C:T p.(Arg79Gln) NC_000001.11:114686889:C:T p.(Arg79Gln) NC_000001.11:114686889:C:T Identity +NM_018965.4:c.635A>G NP_061838.1:p.Asp212Gly NC_000006.12:41158913:T:C p.(Asp212Gly) NC_000006.12:41158913:T:C p.(Asp212Gly) NC_000006.12:41158913:T:C Identity +NM_014510.3:c.8174G>A NP_055325.2:p.Gly2725Asp NC_000007.14:82952778:C:T p.(Gly2725Asp) NC_000007.14:82952778:C:T p.(Gly2725Asp) NC_000007.14:82952778:C:T Identity +NM_001160130.2:c.2642C>T NP_001153602.1:p.Pro881Leu NC_000006.12:73195283:C:T p.(Pro881Leu) NC_000006.12:73195283:C:T p.(Pro881Leu) NC_000006.12:73195283:C:T Identity +NM_000520.6:c.70T>A NP_000511.2:p.Trp24Arg NC_000015.10:72375902:A:T p.(Trp24Arg) NC_000015.10:72375902:A:T p.(Trp24Arg) NC_000015.10:72375902:A:T Identity +NM_001077653.2:c.785C>T NP_001071121.1:p.Thr262Met NC_000007.14:35240906:G:A p.(Thr262Met) NC_000007.14:35240906:G:A p.(Thr262Met) NC_000007.14:35240906:G:A Identity +NM_000286.3:c.391G>A NP_000277.1:p.Glu131Lys NC_000017.11:35577326:C:T p.(Glu131Lys) NC_000017.11:35577326:C:T p.(Glu131Lys) NC_000017.11:35577326:C:T Identity +NM_001271769.2:c.688G>A NP_001258698.1:p.Asp230Asn NC_000005.10:78181613:C:T p.(Asp230Asn) NC_000005.10:78181613:C:T p.(Asp230Asn) NC_000005.10:78181613:C:T Identity +NM_000720.4:c.1479G>A NP_000711.1:p.Trp493Ter NC_000003.12:53718681:G:A p.(Trp493Ter) NC_000003.12:53718681:G:A p.(Trp493Ter) NC_000003.12:53718681:G:A Identity +NM_001351778.2:c.1630G>A NP_001338707.1:p.Glu544Lys NC_000019.10:1615473:C:T p.(Glu544Lys) NC_000019.10:1615473:C:T p.(Glu544Lys) NC_000019.10:1615473:C:T Identity +NM_001317061.3:c.63GAA[1] NP_001303990.1:p.Lys22del NC_000006.12:3083174:AAGAAGAA:AAGAA p.(Lys22del) NC_000006.12:3083176:G:GAA ERR:Parse ERR:Parse Identity +NM_001252043.2:c.2242A>G NP_001238972.1:p.Ile748Val NC_000016.10:29986852:A:G p.(Ile748Val) NC_000016.10:29986852:A:G p.(Ile748Val) NC_000016.10:29986852:A:G Identity +NM_000720.4:c.5846G>C NP_000711.1:p.Arg1949Pro NC_000003.12:53808684:G:C p.(Arg1949Pro) NC_000003.12:53808684:G:C p.(Arg1949Pro) NC_000003.12:53808684:G:C Identity +NM_002180.3:c.1323G>C NP_002171.2:p.Gln441His NC_000011.10:68933385:G:C p.(Gln441His) NC_000011.10:68933385:G:C p.(Gln441His) NC_000011.10:68933385:G:C Identity +NM_015509.4:c.11A>G NP_056324.2:p.Glu4Gly NC_000012.12:8082298:A:G p.(Glu4Gly) NC_000012.12:8082298:A:G p.(Glu4Gly) NC_000012.12:8082298:A:G Identity +NM_001135.4:c.973G>A NP_001126.3:p.Val325Met NC_000015.10:88843569:G:A p.(Val325Met) NC_000015.10:88843569:G:A p.(Val325Met) NC_000015.10:88843569:G:A Identity +NM_005546.4:c.1255G>A NP_005537.3:p.Val419Met NC_000005.10:157244283:G:A p.(Val419Met) NC_000005.10:157244283:G:A p.(Val419Met) NC_000005.10:157244283:G:A Identity +NM_001048171.2:c.110G>A NP_001041636.2:p.Cys37Tyr NC_000001.11:45334395:C:T p.(Cys37Tyr) NC_000001.11:45334395:C:T p.(Cys37Tyr) NC_000001.11:45334395:C:T Identity +NM_000489.6:c.968A>G NP_000480.3:p.Asn323Ser NC_000023.11:77684287:T:C p.(Asn323Ser) NC_000023.11:77684287:T:C p.(Asn323Ser) NC_000023.11:77684287:T:C Identity +NM_012469.4:c.950G>A NP_036601.2:p.Arg317His NC_000020.11:63999685:G:A p.(Arg317His) NC_000020.11:63999685:G:A p.(Arg317His) NC_000020.11:63999685:G:A Identity +NM_001282237.2:c.2096C>T NP_001269166.1:p.Ala699Val NC_000014.9:99174736:G:A p.(Ala699Val) NC_000014.9:99174736:G:A p.(Ala699Val) NC_000014.9:99174736:G:A Identity +NM_001171184.2:c.2432C>T NP_001164655.1:p.Ser811Leu NC_000023.11:101260085:C:T p.(Ser811Leu) NC_000023.11:101260085:C:T p.(Ser811Leu) NC_000023.11:101260085:C:T Identity +NM_001378477.3:c.800C>T NP_001365406.2:p.Ala267Val NC_000023.11:41474267:C:T p.(Ala267Val) NC_000023.11:41474267:C:T p.(Ala267Val) NC_000023.11:41474267:C:T Identity +NM_000234.3:c.185G>A NP_000225.1:p.Arg62Gln NC_000019.10:48161429:C:T p.(Arg62Gln) NC_000019.10:48161429:C:T p.(Arg62Gln) NC_000019.10:48161429:C:T Identity +NM_001376.5:c.3632T>C NP_001367.2:p.Ile1211Thr NC_000014.9:101997101:T:C p.(Ile1211Thr) NC_000014.9:101997101:T:C p.(Ile1211Thr) NC_000014.9:101997101:T:C Identity +NM_001288722.2:c.17A>G NP_001275651.1:p.Lys6Arg NC_000011.10:62621930:T:C p.(Lys6Arg) NC_000011.10:62621930:T:C p.(Lys6Arg) NC_000011.10:62621930:T:C Identity +NM_001127207.2:c.764A>G NP_001120679.1:p.Asn255Ser NC_000002.12:216415467:A:G p.(Asn255Ser) NC_000002.12:216415467:A:G p.(Asn255Ser) NC_000002.12:216415467:A:G Identity +NM_000287.4:c.1765C>T NP_000278.3:p.His589Tyr NC_000006.12:42967486:G:A p.(His589Tyr) NC_000006.12:42967486:G:A p.(His589Tyr) NC_000006.12:42967486:G:A Identity +NM_020949.3:c.1996C>A NP_066000.2:p.Leu666Met NC_000003.12:170467374:G:T p.(Leu666Met) NC_000003.12:170467374:G:T p.(Leu666Met) NC_000003.12:170467374:G:T Identity +NM_007123.6:c.3189A>C NP_009054.6:p.Gln1063His NC_000001.11:216207399:T:G p.(Gln1063His) NC_000001.11:216207399:T:G p.(Gln1063His) NC_000001.11:216207399:T:G Identity +NM_001195286.2:c.23G>T NP_001182215.1:p.Arg8Leu NC_000006.12:393174:G:T p.(Arg8Leu) NC_000006.12:393174:G:T p.(Arg8Leu) NC_000006.12:393174:G:T Identity +NM_000721.4:c.2281C>T NP_000712.2:p.Pro761Ser NC_000001.11:181731214:C:T p.(Pro761Ser) NC_000001.11:181731214:C:T p.(Pro761Ser) NC_000001.11:181731214:C:T Identity +NM_000562.3:c.596A>T NP_000553.1:p.Tyr199Phe NC_000001.11:56881575:A:T p.(Tyr199Phe) NC_000001.11:56881575:A:T p.(Tyr199Phe) NC_000001.11:56881575:A:T Identity +NM_001290184.2:c.35G>T NP_001277113.1:p.Arg12Met NC_000001.11:160344730:G:T p.(Arg12Met) NC_000001.11:160344730:G:T p.(Arg12Met) NC_000001.11:160344730:G:T Identity +NM_001294332.2:c.1156G>C NP_001281261.1:p.Gly386Arg NC_000005.10:236466:G:C p.(Gly386Arg) NC_000005.10:236466:G:C p.(Gly386Arg) NC_000005.10:236466:G:C Identity +NM_001271427.2:c.2012A>G NP_001258356.1:p.Tyr671Cys NC_000001.11:19230892:T:C p.(Tyr671Cys) NC_000001.11:19230892:T:C p.(Tyr671Cys) NC_000001.11:19230892:T:C Identity +NM_001110556.2:c.5908G>A NP_001104026.1:p.Asp1970Asn NC_000023.11:154353409:C:T p.(Asp1970Asn) NC_000023.11:154353409:C:T p.(Asp1970Asn) NC_000023.11:154353409:C:T Identity +NM_001365724.1:c.238G>A NP_001352653.1:p.Glu80Lys NC_000017.11:81651099:C:T p.(Glu80Lys) NC_000017.11:81651099:C:T p.(Glu80Lys) NC_000017.11:81651099:C:T Identity +NM_000068.4:c.2152G>A NP_000059.3:p.Ala718Thr NC_000019.10:13303568:C:T p.(Ala718Thr) NC_000019.10:13303568:C:T p.(Ala718Thr) NC_000019.10:13303568:C:T Identity +NM_001135040.3:c.563C>T NP_001128512.1:p.Pro188Leu NC_000002.12:74371558:G:A p.(Pro188Leu) NC_000002.12:74371558:G:A p.(Pro188Leu) NC_000002.12:74371558:G:A Identity +NM_015909.4:c.3826C>A NP_056993.2:p.Pro1276Thr NC_000002.12:15356407:G:T p.(Pro1276Thr) NC_000002.12:15356407:G:T p.(Pro1276Thr) NC_000002.12:15356407:G:T Identity +NM_001318066.2:c.1856A>G NP_001304995.1:p.Tyr619Cys NC_000004.12:118744129:T:C p.(Tyr619Cys) NC_000004.12:118744129:T:C p.(Tyr619Cys) NC_000004.12:118744129:T:C Identity +NM_000038.6:c.5029G>T NP_000029.2:p.Gly1677Ter NC_000005.10:112840622:G:T p.(Gly1677Ter) NC_000005.10:112840622:G:T p.(Gly1677Ter) NC_000005.10:112840622:G:T Identity +NM_001363729.2:c.16T>A NP_001350658.1:p.Ser6Thr NC_000020.11:36951627:A:T p.(Ser6Thr) NC_000020.11:36951627:A:T p.(Ser6Thr) NC_000020.11:36951627:A:T Identity +NM_015378.4:c.3391C>T NP_056193.2:p.Pro1131Ser NC_000001.11:12276978:C:T p.(Pro1131Ser) NC_000001.11:12276978:C:T p.(Pro1131Ser) NC_000001.11:12276978:C:T Identity +NM_001135999.2:c.3790C>T NP_001129471.2:p.Arg1264Ter NC_000009.12:35560429:C:T p.(Arg1264Ter) NC_000009.12:35560429:C:T p.(Arg1264Ter) NC_000009.12:35560429:C:T Identity +NM_000293.3:c.3214G>A NP_000284.1:p.Ala1072Thr NC_000016.10:47699297:G:A p.(Ala1072Thr) NC_000016.10:47699297:G:A p.(Ala1072Thr) NC_000016.10:47699297:G:A Identity +NM_001379141.1:c.4054G>A NP_001366070.1:p.Glu1352Lys NC_000018.10:45038537:G:A p.(Glu1352Lys) NC_000018.10:45038537:G:A p.(Glu1352Lys) NC_000018.10:45038537:G:A Identity +NM_004204.5:c.1012C>A NP_004195.2:p.Arg338Ser NC_000016.10:578447:C:A p.(Arg338Ser) NC_000016.10:578447:C:A p.(Arg338Ser) NC_000016.10:578447:C:A Identity +NM_001277269.2:c.6071G>A NP_001264198.1:p.Gly2024Glu NC_000011.10:17611334:G:A p.(Gly2024Glu) NC_000011.10:17611334:G:A p.(Gly2024Glu) NC_000011.10:17611334:G:A Identity +NM_001197104.2:c.107C>T NP_001184033.1:p.Pro36Leu NC_000011.10:118436618:C:T p.(Pro36Leu) NC_000011.10:118436618:C:T p.(Pro36Leu) NC_000011.10:118436618:C:T Identity +NM_001385640.1:c.2372C>T NP_001372569.1:p.Ala791Val NC_000001.11:943986:C:T p.(Ala791Val) NC_000001.11:943986:C:T p.(Ala791Val) NC_000001.11:943986:C:T Identity +NM_005559.4:c.286C>A NP_005550.2:p.Pro96Thr NC_000018.10:7080033:G:T p.(Pro96Thr) NC_000018.10:7080033:G:T p.(Pro96Thr) NC_000018.10:7080033:G:T Identity +NM_001104631.2:c.331G>A NP_001098101.1:p.Asp111Asn NC_000005.10:59893291:C:T p.(Asp111Asn) NC_000005.10:59893291:C:T p.(Asp111Asn) NC_000005.10:59893291:C:T Identity +NM_005530.3:c.989C>T NP_005521.1:p.Ala330Val NC_000015.10:78166273:C:T p.(Ala330Val) NC_000015.10:78166273:C:T p.(Ala330Val) NC_000015.10:78166273:C:T Identity +NM_000350.3:c.2657G>C NP_000341.2:p.Cys886Ser NC_000001.11:94048953:C:G p.(Cys886Ser) NC_000001.11:94048953:C:G p.(Cys886Ser) NC_000001.11:94048953:C:G Identity +NM_000249.4:c.1519T>A NP_000240.1:p.Leu507Met NC_000003.12:37028892:T:A p.(Leu507Met) NC_000003.12:37028892:T:A p.(Leu507Met) NC_000003.12:37028892:T:A Identity +NM_001371986.1:c.3251G>A NP_001358915.1:p.Gly1084Glu NC_000002.12:209840541:G:A p.(Gly1084Glu) NC_000002.12:209840541:G:A p.(Gly1084Glu) NC_000002.12:209840541:G:A Identity +NM_001190274.2:c.1571A>G NP_001177203.1:p.Asn524Ser NC_000002.12:47823187:T:C p.(Asn524Ser) NC_000002.12:47823187:T:C p.(Asn524Ser) NC_000002.12:47823187:T:C Identity +NM_006269.2:c.3199G>A NP_006260.1:p.Ala1067Thr NC_000008.11:54627080:G:A p.(Ala1067Thr) NC_000008.11:54627080:G:A p.(Ala1067Thr) NC_000008.11:54627080:G:A Identity +NM_001278511.2:c.2150A>G NP_001265440.1:p.Lys717Arg NC_000015.10:82663933:T:C p.(Lys717Arg) NC_000015.10:82663933:T:C p.(Lys717Arg) NC_000015.10:82663933:T:C Identity +NM_021939.4:c.1046A>G NP_068758.3:p.Tyr349Cys NC_000017.11:41819657:A:G p.(Tyr349Cys) NC_000017.11:41819657:A:G p.(Tyr349Cys) NC_000017.11:41819657:A:G Identity +NM_001039492.3:c.644A>C NP_001034581.1:p.Asp215Ala NC_000002.12:105363328:T:G p.(Asp215Ala) NC_000002.12:105363328:T:G p.(Asp215Ala) NC_000002.12:105363328:T:G Identity +NM_000465.4:c.181G>T NP_000456.2:p.Val61Leu NC_000002.12:214797094:C:A p.(Val61Leu) NC_000002.12:214797094:C:A p.(Val61Leu) NC_000002.12:214797094:C:A Identity +NM_001142571.2:c.1028T>A NP_001136043.1:p.Leu343Ter NC_000017.11:35100971:A:T p.(Leu343Ter) NC_000017.11:35100971:A:T p.(Leu343Ter) NC_000017.11:35100971:A:T Identity +NM_001282948.2:c.5040A>C NP_001269877.1:p.Lys1680Asn NC_000010.11:63197468:T:G p.(Lys1680Asn) NC_000010.11:63197468:T:G p.(Lys1680Asn) NC_000010.11:63197468:T:G Identity +NM_001130455.2:c.6197A>T NP_001123927.1:p.Tyr2066Phe NC_000002.12:71682666:A:T p.(Tyr2066Phe) NC_000002.12:71682666:A:T p.(Tyr2066Phe) NC_000002.12:71682666:A:T Identity +NM_024652.6:c.856T>C NP_078928.3:p.Ser286Pro NC_000015.10:101008929:T:C p.(Ser286Pro) NC_000015.10:101008929:T:C p.(Ser286Pro) NC_000015.10:101008929:T:C Identity +NM_000784.4:c.124G>A NP_000775.1:p.Gly42Arg NC_000002.12:218782305:G:A p.(Gly42Arg) NC_000002.12:218782305:G:A p.(Gly42Arg) NC_000002.12:218782305:G:A Identity +NM_001101362.3:c.626A>G NP_001094832.1:p.Asn209Ser NC_000015.10:65077440:A:G p.(Asn209Ser) NC_000015.10:65077440:A:G p.(Asn209Ser) NC_000015.10:65077440:A:G Identity +NM_000262.3:c.646G>A NP_000253.1:p.Asp216Asn NC_000022.11:42065850:C:T p.(Asp216Asn) NC_000022.11:42065850:C:T p.(Asp216Asn) NC_000022.11:42065850:C:T Identity +NM_000234.3:c.680C>T NP_000225.1:p.Thr227Met NC_000019.10:48150104:G:A p.(Thr227Met) NC_000019.10:48150104:G:A p.(Thr227Met) NC_000019.10:48150104:G:A Identity +NM_001256876.3:c.2018C>G NP_001243805.1:p.Thr673Ser NC_000009.12:712783:C:G p.(Thr673Ser) NC_000009.12:712783:C:G p.(Thr673Ser) NC_000009.12:712783:C:G Identity +NM_000075.4:c.200A>G NP_000066.1:p.Glu67Gly NC_000012.12:57751517:T:C p.(Glu67Gly) NC_000012.12:57751517:T:C p.(Glu67Gly) NC_000012.12:57751517:T:C Identity +NM_005720.4:c.775G>C NP_005711.1:p.Val259Leu NC_000007.14:99391244:G:C p.(Val259Leu) NC_000007.14:99391244:G:C p.(Val259Leu) NC_000007.14:99391244:G:C Identity +NM_001005407.2:c.4921G>A NP_001005407.1:p.Glu1641Lys NC_000016.10:1214980:G:A p.(Glu1641Lys) NC_000016.10:1214980:G:A p.(Glu1641Lys) NC_000016.10:1214980:G:A Identity +NM_001144869.3:c.172A>G NP_001138341.1:p.Thr58Ala NC_000011.10:74493531:T:C p.(Thr58Ala) NC_000011.10:74493531:T:C p.(Thr58Ala) NC_000011.10:74493531:T:C Identity +NM_015909.4:c.5558del NP_056993.2:p.Lys1853fs NC_000002.12:15275649:TT:T p.(Lys1853SerfsTer29) NC_000002.12:15275649:TT:T p.(Lys1853SerfsTer29) NC_000002.12:15275649:T: Analogous +NM_138459.5:c.674C>T NP_612468.1:p.Thr225Met NC_000006.12:117694162:C:T p.(Thr225Met) NC_000006.12:117694162:C:T p.(Thr225Met) NC_000006.12:117694162:C:T Identity +NM_001317237.2:c.409C>T NP_001304166.1:p.Leu137Phe NC_000008.11:11847063:G:A p.(Leu137Phe) NC_000008.11:11847063:G:A p.(Leu137Phe) NC_000008.11:11847063:G:A Identity +NM_001290307.3:c.1583T>C NP_001277236.1:p.Ile528Thr NC_000005.10:138924545:T:C p.(Ile528Thr) NC_000005.10:138924545:T:C p.(Ile528Thr) NC_000005.10:138924545:T:C Identity +NM_000724.4:c.1366C>T NP_000715.2:p.Arg456Cys NC_000010.11:18539271:C:T p.(Arg456Cys) NC_000010.11:18539271:C:T p.(Arg456Cys) NC_000010.11:18539271:C:T Identity +NM_000733.4:c.323C>A NP_000724.1:p.Ala108Glu NC_000011.10:118312836:C:A p.(Ala108Glu) NC_000011.10:118312836:C:A p.(Ala108Glu) NC_000011.10:118312836:C:A Identity +NM_052876.4:c.125A>G NP_443108.1:p.Lys42Arg NC_000019.10:13135331:A:G p.(Lys42Arg) NC_000019.10:13135331:A:G p.(Lys42Arg) NC_000019.10:13135331:A:G Identity +NM_001324112.2:c.581C>G NP_001311041.1:p.Thr194Arg NC_000008.11:64615959:G:C p.(Thr194Arg) NC_000008.11:64615959:G:C p.(Thr194Arg) NC_000008.11:64615959:G:C Identity +NM_001318502.2:c.958G>A NP_001305431.1:p.Glu320Lys NC_000009.12:136434112:C:T p.(Glu320Lys) NC_000009.12:136434112:C:T p.(Glu320Lys) NC_000009.12:136434112:C:T Identity +NM_000081.4:c.6718C>T NP_000072.2:p.His2240Tyr NC_000001.11:235759134:G:A p.(His2240Tyr) NC_000001.11:235759134:G:A p.(His2240Tyr) NC_000001.11:235759134:G:A Identity +NM_001007188.4:c.1118C>A NP_001007189.1:p.Pro373Gln NC_000022.11:31804197:C:A p.(Pro373Gln) NC_000022.11:31804197:C:A p.(Pro373Gln) NC_000022.11:31804197:C:A Identity +NM_001318245.2:c.977G>A NP_001305174.1:p.Ser326Asn NC_000022.11:25768892:G:A p.(Ser326Asn) NC_000022.11:25768892:G:A p.(Ser326Asn) NC_000022.11:25768892:G:A Identity +NM_000530.8:c.136G>C NP_000521.2:p.Val46Leu NC_000001.11:161307355:C:G p.(Val46Leu) NC_000001.11:161307355:C:G p.(Val46Leu) NC_000001.11:161307355:C:G Identity +NM_001164665.2:c.2077T>A NP_001158137.1:p.Phe693Ile NC_000007.14:138917548:A:T p.(Phe693Ile) NC_000007.14:138917548:A:T p.(Phe693Ile) NC_000007.14:138917548:A:T Identity +NM_001313915.2:c.1917_1919del NP_001300844.1:p.Glu640del NC_000002.12:88575110:TCA: p.(Glu640del) NC_000002.12:88575110:TCA: p.(Glu640del) NC_000002.12:88575110:TCA: Identity +NM_001190709.2:c.1145C>A NP_001177638.1:p.Ala382Glu NC_000001.11:103021752:G:T p.(Ala382Glu) NC_000001.11:103021752:G:T p.(Ala382Glu) NC_000001.11:103021752:G:T Identity +NM_000251.3:c.722T>C NP_000242.1:p.Leu241Pro NC_000002.12:47412489:T:C p.(Leu241Pro) NC_000002.12:47412489:T:C p.(Leu241Pro) NC_000002.12:47412489:T:C Identity +NM_001101.5:c.551A>C NP_001092.1:p.Asp184Ala NC_000007.14:5528531:T:G p.(Asp184Ala) NC_000007.14:5528531:T:G p.(Asp184Ala) NC_000007.14:5528531:T:G Identity +NM_018180.3:c.704T>C NP_060650.2:p.Ile235Thr NC_000010.11:125859747:A:G p.(Ile235Thr) NC_000010.11:125859747:A:G p.(Ile235Thr) NC_000010.11:125859747:A:G Identity +NM_001318859.2:c.314G>A NP_001305788.1:p.Arg105Gln NC_000002.12:73946776:G:A p.(Arg105Gln) NC_000002.12:73946776:G:A p.(Arg105Gln) NC_000002.12:73946776:G:A Identity +NM_000138.5:c.8128C>T NP_000129.3:p.Leu2710Phe NC_000015.10:48412666:G:A p.(Leu2710Phe) NC_000015.10:48412666:G:A p.(Leu2710Phe) NC_000015.10:48412666:G:A Identity +NM_000138.5:c.367del NP_000129.3:p.Cys123fs NC_000015.10:48600213:A: p.(Cys123ValfsTer2) NC_000015.10:48600213:A: p.(Cys123ValfsTer2) NC_000015.10:48600213:A: Analogous +NM_000293.3:c.2359G>C NP_000284.1:p.Ala787Pro NC_000016.10:47664906:G:C p.(Ala787Pro) NC_000016.10:47664906:G:C p.(Ala787Pro) NC_000016.10:47664906:G:C Identity +NM_000321.3:c.1274T>A NP_000312.2:p.Ile425Asn NC_000013.11:48376975:T:A p.(Ile425Asn) NC_000013.11:48376975:T:A p.(Ile425Asn) NC_000013.11:48376975:T:A Identity +NM_000372.5:c.98A>C NP_000363.1:p.Lys33Thr NC_000011.10:89178050:A:C p.(Lys33Thr) NC_000011.10:89178050:A:C p.(Lys33Thr) NC_000011.10:89178050:A:C Identity +NM_000935.3:c.812A>G NP_000926.2:p.Asn271Ser NC_000003.12:146091866:T:C p.(Asn271Ser) NC_000003.12:146091866:T:C p.(Asn271Ser) NC_000003.12:146091866:T:C Identity +NM_006493.4:c.1051A>G NP_006484.2:p.Arg351Gly NC_000013.11:77000942:A:G p.(Arg351Gly) NC_000013.11:77000942:A:G p.(Arg351Gly) NC_000013.11:77000942:A:G Identity +NM_001318360.2:c.3036dup NP_001305289.1:p.Gln1013fs NC_000009.12:108880133:A:AA p.(Gln1013SerfsTer29) NC_000009.12:108880133:A:AA p.(Gln1013SerfsTer29) ERR:SPDI Analogous +NM_017780.4:c.7250G>A NP_060250.2:p.Arg2417Lys NC_000008.11:60856529:G:A p.(Arg2417Lys) NC_000008.11:60856529:G:A p.(Arg2417Lys) NC_000008.11:60856529:G:A Identity +NM_001321309.2:c.3894del NP_001308238.1:p.Lys1298fs NC_000003.12:123647420:TTT:TT p.(Lys1298AsnfsTer9) NC_000003.12:123647420:TTT:TT p.(Lys1298AsnfsTer9) NC_000003.12:123647420:T: Analogous +NM_000878.5:c.1588C>T NP_000869.1:p.Pro530Ser NC_000022.11:37128163:G:A p.(Pro530Ser) NC_000022.11:37128163:G:A p.(Pro530Ser) NC_000022.11:37128163:G:A Identity +NM_000322.5:c.994del NP_000313.2:p.Val332fs NC_000006.12:42698341:CC:C p.(Val332TrpfsTer29) NC_000006.12:42698341:CC:C p.(Val332TrpfsTer29) NC_000006.12:42698341:C: Analogous +NM_001144769.5:c.11008G>A NP_001138241.1:p.Asp3670Asn NC_000006.12:56529677:C:T p.(Asp3670Asn) NC_000006.12:56529677:C:T p.(Asp3670Asn) NC_000006.12:56529677:C:T Identity +NM_000632.4:c.1667A>G NP_000623.2:p.His556Arg NC_000016.10:31297913:A:G p.(His556Arg) NC_000016.10:31297913:A:G p.(His556Arg) NC_000016.10:31297913:A:G Identity +NM_001130955.2:c.1025T>A NP_001124427.2:p.Phe342Tyr NC_000019.10:7451161:T:A p.(Phe342Tyr) NC_000019.10:7451161:T:A p.(Phe342Tyr) NC_000019.10:7451161:T:A Identity +NM_021939.4:c.1042G>A NP_068758.3:p.Ala348Thr NC_000017.11:41819653:G:A p.(Ala348Thr) NC_000017.11:41819653:G:A p.(Ala348Thr) NC_000017.11:41819653:G:A Identity +NM_000091.5:c.3026G>C NP_000082.2:p.Gly1009Ala NC_000002.12:227290043:G:C p.(Gly1009Ala) NC_000002.12:227290043:G:C p.(Gly1009Ala) NC_000002.12:227290043:G:C Identity +NM_006393.3:c.1062T>G NP_006384.1:p.Phe354Leu NC_000010.11:20850448:A:C p.(Phe354Leu) NC_000010.11:20850448:A:C p.(Phe354Leu) NC_000010.11:20850448:A:C Identity +NM_024577.4:c.2198C>A NP_078853.2:p.Ser733Tyr NC_000005.10:149027533:G:T p.(Ser733Tyr) NC_000005.10:149027533:G:T p.(Ser733Tyr) NC_000005.10:149027533:G:T Identity +NM_000388.4:c.296A>T NP_000379.3:p.Asp99Val NC_000003.12:122257190:A:T p.(Asp99Val) NC_000003.12:122257190:A:T p.(Asp99Val) NC_000003.12:122257190:A:T Identity +NM_001008844.3:c.6785C>T NP_001008844.1:p.Ser2262Phe NC_000006.12:7585843:C:T p.(Ser2262Phe) NC_000006.12:7585843:C:T p.(Ser2262Phe) NC_000006.12:7585843:C:T Identity +NM_015180.6:c.8026A>G NP_055995.4:p.Lys2676Glu NC_000014.9:64051938:A:G p.(Lys2676Glu) NC_000014.9:64051938:A:G p.(Lys2676Glu) NC_000014.9:64051938:A:G Identity +NM_001291902.2:c.2033G>A NP_001278831.1:p.Cys678Tyr NC_000011.10:68433613:G:A p.(Cys678Tyr) NC_000011.10:68433613:G:A p.(Cys678Tyr) NC_000011.10:68433613:G:A Identity +NM_000388.4:c.1237C>T NP_000379.3:p.His413Tyr NC_000003.12:122262271:C:T p.(His413Tyr) NC_000003.12:122262271:C:T p.(His413Tyr) NC_000003.12:122262271:C:T Identity +NM_024753.5:c.1138C>T NP_079029.3:p.Gln380Ter NC_000002.12:165929696:G:A p.(Gln380Ter) NC_000002.12:165929696:G:A p.(Gln380Ter) NC_000002.12:165929696:G:A Identity +NM_015180.6:c.19672T>G NP_055995.4:p.Ser6558Ala NC_000014.9:64219290:T:G p.(Ser6558Ala) NC_000014.9:64219290:T:G p.(Ser6558Ala) NC_000014.9:64219290:T:G Identity +NM_001254740.2:c.922G>A NP_001241669.1:p.Gly308Ser NC_000015.10:65652698:G:A p.(Gly308Ser) NC_000015.10:65652698:G:A p.(Gly308Ser) NC_000015.10:65652698:G:A Identity +NM_024577.4:c.2107G>A NP_078853.2:p.Gly703Arg NC_000005.10:149027624:C:T p.(Gly703Arg) NC_000005.10:149027624:C:T p.(Gly703Arg) NC_000005.10:149027624:C:T Identity +NM_001177984.3:c.2558A>G NP_001171455.1:p.Lys853Arg NC_000012.12:51765683:A:G p.(Lys853Arg) NC_000012.12:51765683:A:G p.(Lys853Arg) NC_000012.12:51765683:A:G Identity +NM_001277155.3:c.551G>A NP_001264084.1:p.Arg184Gln NC_000001.11:235484448:C:T p.(Arg184Gln) NC_000001.11:235484448:C:T p.(Arg184Gln) NC_000001.11:235484448:C:T Identity +NM_206933.4:c.9538del NP_996816.3:p.Cys3180fs NC_000001.11:215817028:A: p.(Cys3180ValfsTer37) NC_000001.11:215817028:A: p.(Cys3180ValfsTer37) NC_000001.11:215817028:A: Analogous +NM_001346083.2:c.2752A>G NP_001333012.1:p.Asn918Asp NC_000001.11:205072502:A:G p.(Asn918Asp) NC_000001.11:205072502:A:G p.(Asn918Asp) NC_000001.11:205072502:A:G Identity +NM_000414.4:c.131A>T NP_000405.1:p.Asp44Val NC_000005.10:119473925:A:T p.(Asp44Val) NC_000005.10:119473925:A:T p.(Asp44Val) NC_000005.10:119473925:A:T Identity +NM_001200001.2:c.2792A>G NP_001186930.1:p.Asn931Ser NC_000001.11:119941714:T:C p.(Asn931Ser) NC_000001.11:119941714:T:C p.(Asn931Ser) NC_000001.11:119941714:T:C Identity +NM_000117.3:c.74C>G NP_000108.1:p.Pro25Arg NC_000023.11:154379557:C:G p.(Pro25Arg) NC_000023.11:154379557:C:G p.(Pro25Arg) NC_000023.11:154379557:C:G Identity +NM_006231.4:c.1093G>A NP_006222.2:p.Asp365Asn NC_000012.12:132675747:C:T p.(Asp365Asn) NC_000012.12:132675747:C:T p.(Asp365Asn) NC_000012.12:132675747:C:T Identity +NM_002299.4:c.3395A>G NP_002290.2:p.Lys1132Arg NC_000002.12:135808951:T:C p.(Lys1132Arg) NC_000002.12:135808951:T:C p.(Lys1132Arg) NC_000002.12:135808951:T:C Identity +NM_001031681.3:c.1A>T NP_001026851.2:p.Met1Leu NC_000017.11:3640206:A:T p.(Met1Leu) NC_000017.11:3640206:A:T p.Met1? NC_000017.11:3640206:A:T Identity +NM_000135.4:c.830C>T NP_000126.2:p.Ala277Val NC_000016.10:89799228:G:A p.(Ala277Val) NC_000016.10:89799228:G:A p.(Ala277Val) NC_000016.10:89799228:G:A Identity +NM_001164317.2:c.3836A>G NP_001157789.1:p.Glu1279Gly NC_000003.12:58124442:A:G p.(Glu1279Gly) NC_000003.12:58124442:A:G p.(Glu1279Gly) NC_000003.12:58124442:A:G Identity +NM_001346897.2:c.1992A>C NP_001333826.1:p.Glu664Asp NC_000007.14:55173985:A:C p.(Glu664Asp) NC_000007.14:55173985:A:C p.(Glu664Asp) NC_000007.14:55173985:A:C Identity +NM_018451.5:c.942T>G NP_060921.3:p.Asp314Glu NC_000013.11:24908049:A:C p.(Asp314Glu) NC_000013.11:24908049:A:C p.(Asp314Glu) NC_000013.11:24908049:A:C Identity +NM_003276.2:c.742A>G NP_003267.1:p.Lys248Glu NC_000012.12:98532998:A:G p.(Lys248Glu) NC_000012.12:98532998:A:G p.(Lys248Glu) NC_000012.12:98532998:A:G Identity +NM_004565.3:c.908T>C NP_004556.1:p.Val303Ala NC_000001.11:10629760:T:C p.(Val303Ala) NC_000001.11:10629760:T:C p.(Val303Ala) NC_000001.11:10629760:T:C Identity +NM_001005505.3:c.196C>G NP_001005505.1:p.Gln66Glu NC_000003.12:50503227:G:C p.(Gln66Glu) NC_000003.12:50503227:G:C p.(Gln66Glu) NC_000003.12:50503227:G:C Identity +NM_001042385.2:c.931T>C NP_001035844.1:p.Tyr311His NC_000002.12:44339184:A:G p.(Tyr311His) NC_000002.12:44339184:A:G p.(Tyr311His) NC_000002.12:44339184:A:G Identity +NM_002087.4:c.62C>T NP_002078.1:p.Pro21Leu NC_000017.11:44349225:C:T p.(Pro21Leu) NC_000017.11:44349225:C:T p.(Pro21Leu) NC_000017.11:44349225:C:T Identity +NM_001100112.2:c.2068A>G NP_001093582.1:p.Met690Val NC_000017.11:10535184:T:C p.(Met690Val) NC_000017.11:10535184:T:C p.(Met690Val) NC_000017.11:10535184:T:C Identity +NM_005045.4:c.2810G>C NP_005036.2:p.Gly937Ala NC_000007.14:103611695:C:G p.(Gly937Ala) NC_000007.14:103611695:C:G p.(Gly937Ala) NC_000007.14:103611695:C:G Identity +NM_001281428.2:c.1013C>T NP_001268357.1:p.Ser338Phe NC_000009.12:34500820:C:T p.(Ser338Phe) NC_000009.12:34500820:C:T p.(Ser338Phe) NC_000009.12:34500820:C:T Identity +NM_022095.4:c.1030A>G NP_071378.1:p.Thr344Ala NC_000020.11:45965699:T:C p.(Thr344Ala) NC_000020.11:45965699:T:C p.(Thr344Ala) NC_000020.11:45965699:T:C Identity +NM_001039476.3:c.671T>C NP_001034565.1:p.Leu224Pro NC_000016.10:89855:A:G p.(Leu224Pro) NC_000016.10:89855:A:G p.(Leu224Pro) NC_000016.10:89855:A:G Identity +NM_020964.3:c.4112G>A NP_066015.2:p.Arg1371His NC_000018.10:45910613:C:T p.(Arg1371His) NC_000018.10:45910613:C:T p.(Arg1371His) NC_000018.10:45910613:C:T Identity +NM_017780.4:c.1811A>G NP_060250.2:p.Asn604Ser NC_000008.11:60781144:A:G p.(Asn604Ser) NC_000008.11:60781144:A:G p.(Asn604Ser) NC_000008.11:60781144:A:G Identity +NM_020919.4:c.4382G>A NP_065970.2:p.Arg1461Gln NC_000002.12:201707889:C:T p.(Arg1461Gln) NC_000002.12:201707889:C:T p.(Arg1461Gln) NC_000002.12:201707889:C:T Identity +NM_001376.5:c.2080A>C NP_001367.2:p.Asn694His NC_000014.9:101986304:A:C p.(Asn694His) NC_000014.9:101986304:A:C p.(Asn694His) NC_000014.9:101986304:A:C Identity +NM_000339.3:c.2143G>T NP_000330.3:p.Glu715Ter NC_000016.10:56887057:G:T p.(Glu715Ter) NC_000016.10:56887057:G:T p.(Glu715Ter) NC_000016.10:56887057:G:T Identity +NM_005559.4:c.5923A>G NP_005550.2:p.Lys1975Glu NC_000018.10:6980604:T:C p.(Lys1975Glu) NC_000018.10:6980604:T:C p.(Lys1975Glu) NC_000018.10:6980604:T:C Identity +NM_002238.4:c.2861C>T NP_002229.1:p.Ser954Leu NC_000001.11:210683308:G:A p.(Ser954Leu) NC_000001.11:210683308:G:A p.(Ser954Leu) NC_000001.11:210683308:G:A Identity +NM_001165963.4:c.1018T>C NP_001159435.1:p.Ser340Pro NC_000002.12:166048895:A:G p.(Ser340Pro) NC_000002.12:166048895:A:G p.(Ser340Pro) NC_000002.12:166048895:A:G Identity +NM_033109.5:c.833C>G NP_149100.2:p.Thr278Ser NC_000002.12:55672925:G:C p.(Thr278Ser) NC_000002.12:55672925:G:C p.(Thr278Ser) NC_000002.12:55672925:G:C Identity +NM_001278055.2:c.3595G>C NP_001264984.1:p.Asp1199His NC_000013.11:23339839:C:G p.(Asp1199His) NC_000013.11:23339839:C:G p.(Asp1199His) NC_000013.11:23339839:C:G Identity +NM_144701.3:c.1498A>G NP_653302.2:p.Asn500Asp NC_000001.11:67258735:A:G p.(Asn500Asp) NC_000001.11:67258735:A:G p.(Asn500Asp) NC_000001.11:67258735:A:G Identity +NM_001329938.2:c.723del NP_001316867.1:p.Asn241fs NC_000014.9:75965618:G: p.(Asn241LysfsTer5) NC_000014.9:75965618:G: p.(Asn241LysfsTer5) NC_000014.9:75965618:G: Analogous +NM_001407852.1:c.2150T>C NP_001394781.1:p.Val717Ala NC_000017.11:43093239:A:G p.(Val717Ala) NC_000017.11:43093239:A:G p.(Val717Ala) NC_000017.11:43093239:A:G Identity +NM_001167749.3:c.942G>C NP_001161221.1:p.Glu314Asp NC_000001.11:167878450:C:G p.(Glu314Asp) NC_000001.11:167878450:C:G p.(Glu314Asp) NC_000001.11:167878450:C:G Identity +NM_001127244.2:c.610G>C NP_001120716.1:p.Asp204His NC_000009.12:128907773:G:C p.(Asp204His) NC_000009.12:128907773:G:C p.(Asp204His) NC_000009.12:128907773:G:C Identity +NM_000720.4:c.5716C>G NP_000711.1:p.His1906Asp NC_000003.12:53805052:C:G p.(His1906Asp) NC_000003.12:53805052:C:G p.(His1906Asp) NC_000003.12:53805052:C:G Identity +NM_006231.4:c.5807G>A NP_006222.2:p.Gly1936Glu NC_000012.12:132635895:C:T p.(Gly1936Glu) NC_000012.12:132635895:C:T p.(Gly1936Glu) NC_000012.12:132635895:C:T Identity +NM_003924.4:c.26T>A NP_003915.2:p.Leu9His NC_000004.12:41748584:A:T p.(Leu9His) NC_000004.12:41748584:A:T p.(Leu9His) NC_000004.12:41748584:A:T Identity +NM_001278.5:c.2054C>T NP_001269.3:p.Pro685Leu NC_000010.11:100193351:G:A p.(Pro685Leu) NC_000010.11:100193351:G:A p.(Pro685Leu) NC_000010.11:100193351:G:A Identity +NM_000287.4:c.281C>A NP_000278.3:p.Ala94Glu NC_000006.12:42978869:G:T p.(Ala94Glu) NC_000006.12:42978869:G:T p.(Ala94Glu) NC_000006.12:42978869:G:T Identity +NM_033109.5:c.1044T>A NP_149100.2:p.Phe348Leu NC_000002.12:55667890:A:T p.(Phe348Leu) NC_000002.12:55667890:A:T p.(Phe348Leu) NC_000002.12:55667890:A:T Identity +NM_006767.4:c.1190C>T NP_006758.2:p.Ser397Leu NC_000022.11:20992833:C:T p.(Ser397Leu) NC_000022.11:20992833:C:T p.(Ser397Leu) NC_000022.11:20992833:C:T Identity +NM_000535.7:c.1068G>T NP_000526.2:p.Lys356Asn NC_000007.14:5989875:C:A p.(Lys356Asn) NC_000007.14:5989875:C:A p.(Lys356Asn) NC_000007.14:5989875:C:A Identity +NM_000244.4:c.148G>C NP_000235.3:p.Val50Leu NC_000011.10:64809961:C:G p.(Val50Leu) NC_000011.10:64809961:C:G p.(Val50Leu) NC_000011.10:64809961:C:G Identity +NM_005732.4:c.3320T>C NP_005723.2:p.Met1107Thr NC_000005.10:132618224:T:C p.(Met1107Thr) NC_000005.10:132618224:T:C p.(Met1107Thr) NC_000005.10:132618224:T:C Identity +NM_020999.4:c.107C>T NP_066279.2:p.Pro36Leu NC_000010.11:69572936:G:A p.(Pro36Leu) NC_000010.11:69572936:G:A p.(Pro36Leu) NC_000010.11:69572936:G:A Identity +NM_001079866.2:c.802C>A NP_001073335.1:p.His268Asn NC_000002.12:218662591:C:A p.(His268Asn) NC_000002.12:218662591:C:A p.(His268Asn) NC_000002.12:218662591:C:A Identity +NM_001193465.2:c.1327_1328insATTC NP_001180394.1:p.Ala443fs NC_000017.11:46094663::GAAT p.(Ala443AspfsTer17) NC_000017.11:46094662:G:GAAT p.(Ala443AspfsTer17) NC_000017.11:46094663:GC:GAAT Analogous +NM_001379141.1:c.2824C>T NP_001366070.1:p.Arg942Trp NC_000018.10:44952163:C:T p.(Arg942Trp) NC_000018.10:44952163:C:T p.(Arg942Trp) NC_000018.10:44952163:C:T Identity +NM_005359.6:c.639C>G NP_005350.1:p.Asn213Lys NC_000018.10:51054964:C:G p.(Asn213Lys) NC_000018.10:51054964:C:G p.(Asn213Lys) NC_000018.10:51054964:C:G Identity +NM_000813.3:c.981C>G NP_000804.1:p.Asn327Lys NC_000005.10:161330978:G:C p.(Asn327Lys) NC_000005.10:161330978:G:C p.(Asn327Lys) NC_000005.10:161330978:G:C Identity +NM_000466.3:c.3007G>A NP_000457.1:p.Val1003Ile NC_000007.14:92494315:C:T p.(Val1003Ile) NC_000007.14:92494315:C:T p.(Val1003Ile) NC_000007.14:92494315:C:T Identity +NM_001127396.3:c.1325G>T NP_001120868.1:p.Gly442Val NC_000019.10:7645283:G:T p.(Gly442Val) NC_000019.10:7645283:G:T p.(Gly442Val) NC_000019.10:7645283:G:T Identity +NM_000059.4:c.1633G>C NP_000050.3:p.Val545Leu NC_000013.11:32333110:G:C p.(Val545Leu) NC_000013.11:32333110:G:C p.(Val545Leu) NC_000013.11:32333110:G:C Identity +NM_001282352.2:c.1738C>A NP_001269281.1:p.Arg580Ser NC_000019.10:8580927:G:T p.(Arg580Ser) NC_000019.10:8580927:G:T p.(Arg580Ser) NC_000019.10:8580927:G:T Identity +NM_001378454.1:c.11577dup NP_001365383.1:p.Ile3860fs NC_000002.12:73599429:T:TT p.(Ile3860TyrfsTer7) NC_000002.12:73599429:T:TT p.(Ile3860TyrfsTer7) ERR:SPDI Analogous +NM_001128602.2:c.680C>G NP_001122074.1:p.Ser227Cys NC_000015.10:38512951:G:C p.(Ser227Cys) NC_000015.10:38512951:G:C p.(Ser227Cys) NC_000015.10:38512951:G:C Identity +NM_001387439.1:c.182T>C NP_001374368.1:p.Leu61Pro NC_000019.10:18895890:A:G p.(Leu61Pro) NC_000019.10:18895890:A:G p.(Leu61Pro) NC_000019.10:18895890:A:G Identity +NM_005045.4:c.6121C>G NP_005036.2:p.Leu2041Val NC_000007.14:103551247:G:C p.(Leu2041Val) NC_000007.14:103551247:G:C p.(Leu2041Val) NC_000007.14:103551247:G:C Identity +NM_000090.4:c.674G>A NP_000081.2:p.Gly225Asp NC_000002.12:188989432:G:A p.(Gly225Asp) NC_000002.12:188989432:G:A p.(Gly225Asp) NC_000002.12:188989432:G:A Identity +NM_012414.4:c.3526G>A NP_036546.2:p.Val1176Met NC_000001.11:220157298:C:T p.(Val1176Met) NC_000001.11:220157298:C:T p.(Val1176Met) NC_000001.11:220157298:C:T Identity +NM_003276.2:c.2069G>A NP_003267.1:p.Arg690His NC_000012.12:98534325:G:A p.(Arg690His) NC_000012.12:98534325:G:A p.(Arg690His) NC_000012.12:98534325:G:A Identity +NM_206933.4:c.7852T>C NP_996816.3:p.Trp2618Arg NC_000001.11:215888796:A:G p.(Trp2618Arg) NC_000001.11:215888796:A:G p.(Trp2618Arg) NC_000001.11:215888796:A:G Identity +NM_014510.3:c.5526A>T NP_055325.2:p.Leu1842Phe NC_000007.14:82955426:T:A p.(Leu1842Phe) NC_000007.14:82955426:T:A p.(Leu1842Phe) NC_000007.14:82955426:T:A Identity +NM_001317163.2:c.5003C>T NP_001304092.1:p.Ala1668Val NC_000009.12:120952784:G:A p.(Ala1668Val) NC_000009.12:120952784:G:A p.(Ala1668Val) NC_000009.12:120952784:G:A Identity +NM_003630.3:c.511C>A NP_003621.1:p.Leu171Ile NC_000006.12:143471436:C:A p.(Leu171Ile) NC_000006.12:143471436:C:A p.(Leu171Ile) NC_000006.12:143471436:C:A Identity +NM_000094.4:c.6388G>A NP_000085.1:p.Asp2130Asn NC_000003.12:48574681:C:T p.(Asp2130Asn) NC_000003.12:48574681:C:T p.(Asp2130Asn) NC_000003.12:48574681:C:T Identity +NM_001195573.1:c.3665T>C NP_001182502.1:p.Leu1222Ser NC_000014.9:95103730:A:G p.(Leu1222Ser) NC_000014.9:95103730:A:G p.(Leu1222Ser) NC_000014.9:95103730:A:G Identity +NM_001007565.2:c.478del NP_001007566.1:p.Val160fs NC_000003.12:100732568:GG:G p.(Val160LeufsTer12) NC_000003.12:100732568:GG:G p.(Val160LeufsTer12) NC_000003.12:100732569:G: Analogous +NM_001318245.2:c.1228A>G NP_001305174.1:p.Ser410Gly NC_000022.11:25769143:A:G p.(Ser410Gly) NC_000022.11:25769143:A:G p.(Ser410Gly) NC_000022.11:25769143:A:G Identity +NM_032119.4:c.4250A>C NP_115495.3:p.Lys1417Thr NC_000005.10:90653823:A:C p.(Lys1417Thr) NC_000005.10:90653823:A:C p.(Lys1417Thr) NC_000005.10:90653823:A:C Identity +NM_001365999.1:c.7123C>T NP_001352928.1:p.Arg2375Ter NC_000001.11:43439960:C:T p.(Arg2375Ter) NC_000001.11:43439960:C:T p.(Arg2375Ter) NC_000001.11:43439960:C:T Identity +NM_001282352.2:c.1682A>G NP_001269281.1:p.Lys561Arg NC_000019.10:8580983:T:C p.(Lys561Arg) NC_000019.10:8580983:T:C p.(Lys561Arg) NC_000019.10:8580983:T:C Identity +NM_006231.4:c.4828C>T NP_006222.2:p.Pro1610Ser NC_000012.12:132642629:G:A p.(Pro1610Ser) NC_000012.12:132642629:G:A p.(Pro1610Ser) NC_000012.12:132642629:G:A Identity +NM_001130066.2:c.2531G>A NP_001123538.1:p.Ser844Asn NC_000006.12:33443124:G:A p.(Ser844Asn) NC_000006.12:33443124:G:A p.(Ser844Asn) NC_000006.12:33443124:G:A Identity +NM_001330174.3:c.427C>T NP_001317103.1:p.His143Tyr NC_000010.11:123043096:C:T p.(His143Tyr) NC_000010.11:123043096:C:T p.(His143Tyr) NC_000010.11:123043096:C:T Identity +NM_001303496.3:c.1261A>G NP_001290425.1:p.Thr421Ala NC_000007.14:93134710:T:C p.(Thr421Ala) NC_000007.14:93134710:T:C p.(Thr421Ala) NC_000007.14:93134710:T:C Identity +NM_002076.4:c.950A>G NP_002067.1:p.Asn317Ser NC_000012.12:64739424:T:C p.(Asn317Ser) NC_000012.12:64739424:T:C p.(Asn317Ser) NC_000012.12:64739424:T:C Identity +NM_020312.4:c.502G>A NP_064708.1:p.Val168Ile NC_000016.10:57456626:G:A p.(Val168Ile) NC_000016.10:57456626:G:A p.(Val168Ile) NC_000016.10:57456626:G:A Identity +NM_014974.3:c.3328C>T NP_055789.1:p.Leu1110Phe NC_000010.11:345013:G:A p.(Leu1110Phe) NC_000010.11:345013:G:A p.(Leu1110Phe) NC_000010.11:345013:G:A Identity +NM_002299.4:c.2110_2112del NP_002290.2:p.Asp704del NC_000002.12:135812551:ATCAT:AT p.(Asp704del) NC_000002.12:135812551:ATCAT:AT p.(Asp704del) NC_000002.12:135812551:ATC: Identity +NM_205850.3:c.503C>T NP_995322.1:p.Ser168Leu NC_000015.10:48134896:C:T p.(Ser168Leu) NC_000015.10:48134896:C:T p.(Ser168Leu) NC_000015.10:48134896:C:T Identity +NM_001142763.2:c.1372_1373del NP_001136235.1:p.Thr458fs NC_000010.11:54185215:GTG:G p.(Thr458ArgfsTer32) NC_000010.11:54185215:GTG:G p.(Thr458ArgfsTer32) NC_000010.11:54185215:GT: Analogous +NM_014252.4:c.236C>G NP_055067.1:p.Ser79Ter NC_000013.11:40799236:C:G p.(Ser79Ter) NC_000013.11:40799236:C:G p.(Ser79Ter) NC_000013.11:40799236:C:G Identity +NM_004525.3:c.5959G>A NP_004516.2:p.Asp1987Asn NC_000002.12:169213737:C:T p.(Asp1987Asn) NC_000002.12:169213737:C:T p.(Asp1987Asn) NC_000002.12:169213737:C:T Identity +NM_139318.5:c.2725A>C NP_647479.2:p.Thr909Pro NC_000014.9:62707749:T:G p.(Thr909Pro) NC_000014.9:62707749:T:G p.(Thr909Pro) NC_000014.9:62707749:T:G Identity +NM_001258214.1:c.121A>G NP_001245143.1:p.Ile41Val NC_000001.11:67321645:A:G p.(Ile41Val) NC_000001.11:67321645:A:G p.(Ile41Val) NC_000001.11:67321645:A:G Identity +NM_145290.4:c.2990T>C NP_660333.2:p.Leu997Ser NC_000004.12:22388680:A:G p.(Leu997Ser) NC_000004.12:22388680:A:G p.(Leu997Ser) NC_000004.12:22388680:A:G Identity +NM_001308122.2:c.1414G>A NP_001295051.1:p.Val472Met NC_000005.10:132392506:G:A p.(Val472Met) NC_000005.10:132392506:G:A p.(Val472Met) NC_000005.10:132392506:G:A Identity +NM_001362949.2:c.2171G>A NP_001349878.1:p.Arg724His NC_000022.11:33274526:C:T p.(Arg724His) NC_000022.11:33274526:C:T p.(Arg724His) NC_000022.11:33274526:C:T Identity +NM_033071.5:c.22520G>T NP_149062.2:p.Trp7507Leu NC_000006.12:152208062:C:A p.(Trp7507Leu) NC_000006.12:152208062:C:A p.(Trp7507Leu) NC_000006.12:152208062:C:A Identity +NM_001367759.1:c.3074C>G NP_001354688.1:p.Ser1025Cys NC_000006.12:121126409:G:C p.(Ser1025Cys) NC_000006.12:121126409:G:C p.(Ser1025Cys) NC_000006.12:121126409:G:C Identity +NM_206933.4:c.14525C>T NP_996816.3:p.Ser4842Leu NC_000001.11:215648584:G:A p.(Ser4842Leu) NC_000001.11:215648584:G:A p.(Ser4842Leu) NC_000001.11:215648584:G:A Identity +NM_033118.4:c.715G>A NP_149109.1:p.Glu239Lys NC_000020.11:31821679:G:A p.(Glu239Lys) NC_000020.11:31821679:G:A p.(Glu239Lys) NC_000020.11:31821679:G:A Identity +NM_001042663.3:c.1382G>C NP_001036128.2:p.Gly461Ala NC_000001.11:6471497:C:G p.(Gly461Ala) NC_000001.11:6471497:C:G p.(Gly461Ala) NC_000001.11:6471497:C:G Identity +NM_000739.3:c.454T>G NP_000730.1:p.Phe152Val NC_000007.14:137015318:T:G p.(Phe152Val) NC_000007.14:137015318:T:G p.(Phe152Val) NC_000007.14:137015318:T:G Identity +NM_000244.4:c.308T>G NP_000235.3:p.Leu103Arg NC_000011.10:64809801:A:C p.(Leu103Arg) NC_000011.10:64809801:A:C p.(Leu103Arg) NC_000011.10:64809801:A:C Identity +NM_016360.4:c.685G>A NP_057444.2:p.Val229Ile NC_000017.11:63607455:G:A p.(Val229Ile) NC_000017.11:63607455:G:A p.(Val229Ile) NC_000017.11:63607455:G:A Identity +NM_001318245.2:c.6145C>T NP_001305174.1:p.Arg2049Trp NC_000022.11:25955349:C:T p.(Arg2049Trp) NC_000022.11:25955349:C:T p.(Arg2049Trp) NC_000022.11:25955349:C:T Identity +NM_024306.5:c.113G>A NP_077282.3:p.Ser38Asn NC_000016.10:74774642:C:T p.(Ser38Asn) NC_000016.10:74774642:C:T p.(Ser38Asn) NC_000016.10:74774642:C:T Identity +NM_017890.5:c.2626A>G NP_060360.3:p.Ile876Val NC_000008.11:99274307:A:G p.(Ile876Val) NC_000008.11:99274307:A:G p.(Ile876Val) NC_000008.11:99274307:A:G Identity +NM_003334.4:c.370G>A NP_003325.2:p.Gly124Ser NC_000023.11:47199503:G:A p.(Gly124Ser) NC_000023.11:47199503:G:A p.(Gly124Ser) NC_000023.11:47199503:G:A Identity +NM_001378454.1:c.4221dup NP_001365383.1:p.Val1408fs NC_000002.12:73450747:C:CC p.(Val1408ArgfsTer9) NC_000002.12:73450747:C:CC p.(Val1408ArgfsTer9) ERR:SPDI Analogous +NM_001204255.2:c.900G>A NP_001191184.1:p.Met300Ile NC_000004.12:76163293:C:T p.(Met300Ile) NC_000004.12:76163293:C:T p.(Met300Ile) NC_000004.12:76163293:C:T Identity +NM_024884.3:c.262C>T NP_079160.1:p.His88Tyr NC_000014.9:50302162:G:A p.(His88Tyr) NC_000014.9:50302162:G:A p.(His88Tyr) NC_000014.9:50302162:G:A Identity +NM_001171184.2:c.437G>A NP_001164655.1:p.Arg146His NC_000023.11:101241778:G:A p.(Arg146His) NC_000023.11:101241778:G:A p.(Arg146His) NC_000023.11:101241778:G:A Identity +NM_001206846.2:c.853A>T NP_001193775.1:p.Asn285Tyr NC_000001.11:197143398:T:A p.(Asn285Tyr) NC_000001.11:197143398:T:A p.(Asn285Tyr) NC_000001.11:197143398:T:A Identity +NM_001300960.2:c.757A>G NP_001287889.1:p.Met253Val NC_000006.12:110623333:T:C p.(Met253Val) NC_000006.12:110623333:T:C p.(Met253Val) NC_000006.12:110623333:T:C Identity +NM_001130438.3:c.1462G>A NP_001123910.1:p.Ala488Thr NC_000009.12:128581781:G:A p.(Ala488Thr) NC_000009.12:128581781:G:A p.(Ala488Thr) NC_000009.12:128581781:G:A Identity +NM_000088.4:c.2910_2911del NP_000079.2:p.Gly971fs NC_000017.11:50189193:CTCTCTCTC:CTCTCTC p.(Gly971LeufsTer10) NC_000017.11:50189193:CTCTCTCTC:CTCTCTC p.(Gly971LeufsTer10) NC_000017.11:50189193:CT: Analogous +NM_198586.3:c.218G>T NP_940988.2:p.Arg73Leu NC_000006.12:18122388:C:A p.(Arg73Leu) NC_000006.12:18122388:C:A p.(Arg73Leu) NC_000006.12:18122388:C:A Identity +NM_007129.5:c.983C>A NP_009060.2:p.Thr328Lys NC_000013.11:99983046:C:A p.(Thr328Lys) NC_000013.11:99983046:C:A p.(Thr328Lys) NC_000013.11:99983046:C:A Identity +NM_000068.4:c.110_125dup NP_000059.3:p.Gly43fs NC_000019.10:13506099:GGCTGCCCGCCCTGCCGGCTGCCC:GGCTGCCCGCCCTGCCGGCTGCCCGCCCTGCCGGCTGCCC p.(Gly43AlafsTer38) NC_000019.10:13506099:GGCTGCCCGCCCTGCCGGCTGCCC:GGCTGCCCGCCCTGCCGGCTGCCCGCCCTGCCGGCTGCCC p.(Gly43AlafsTer38) ERR:SPDI Analogous +NM_014714.4:c.2123A>G NP_055529.2:p.His708Arg NC_000016.10:1562060:T:C p.(His708Arg) NC_000016.10:1562060:T:C p.(His708Arg) NC_000016.10:1562060:T:C Identity +NM_178857.6:c.131C>T NP_849188.4:p.Pro44Leu NC_000008.11:10623070:G:A p.(Pro44Leu) NC_000008.11:10623070:G:A p.(Pro44Leu) NC_000008.11:10623070:G:A Identity +NM_001378454.1:c.11071G>A NP_001365383.1:p.Glu3691Lys NC_000002.12:73572947:G:A p.(Glu3691Lys) NC_000002.12:73572947:G:A p.(Glu3691Lys) NC_000002.12:73572947:G:A Identity +NM_001349881.2:c.678C>A NP_001336810.1:p.Tyr226Ter NC_000001.11:111118819:G:T p.(Tyr226Ter) NC_000001.11:111118819:G:T p.(Tyr226Ter) NC_000001.11:111118819:G:T Identity +NM_001256849.1:c.2500A>G NP_001243778.1:p.Arg834Gly NC_000019.10:50414925:A:G p.(Arg834Gly) NC_000019.10:50414925:A:G p.(Arg834Gly) NC_000019.10:50414925:A:G Identity +NM_002900.3:c.1934A>C NP_002891.1:p.His645Pro NC_000010.11:47350417:A:C p.(His645Pro) NC_000010.11:47350417:A:C p.(His645Pro) NC_000010.11:47350417:A:C Identity +NM_052876.4:c.119C>T NP_443108.1:p.Ala40Val NC_000019.10:13135325:C:T p.(Ala40Val) NC_000019.10:13135325:C:T p.(Ala40Val) NC_000019.10:13135325:C:T Identity +NM_001256789.3:c.2571C>G NP_001243718.1:p.Ile857Met NC_000023.11:49219422:G:C p.(Ile857Met) NC_000023.11:49219422:G:C p.(Ile857Met) NC_000023.11:49219422:G:C Identity +NM_001171.6:c.2824G>A NP_001162.5:p.Val942Met NC_000016.10:16169816:C:T p.(Val942Met) NC_000016.10:16169816:C:T p.(Val942Met) NC_000016.10:16169816:C:T Identity +NM_001256876.3:c.1004T>C NP_001243805.1:p.Leu335Pro NC_000009.12:711769:T:C p.(Leu335Pro) NC_000009.12:711769:T:C p.(Leu335Pro) NC_000009.12:711769:T:C Identity +NM_000180.4:c.1562G>A NP_000171.1:p.Arg521Gln NC_000017.11:8007523:G:A p.(Arg521Gln) NC_000017.11:8007523:G:A p.(Arg521Gln) NC_000017.11:8007523:G:A Identity +NM_001024845.3:c.1697C>A NP_001020016.1:p.Thr566Asn NC_000001.11:43997864:G:T p.(Thr566Asn) NC_000001.11:43997864:G:T p.(Thr566Asn) NC_000001.11:43997864:G:T Identity +NM_001041.4:c.1343A>G NP_001032.2:p.Asn448Ser NC_000003.12:165059017:T:C p.(Asn448Ser) NC_000003.12:165059017:T:C p.(Asn448Ser) NC_000003.12:165059017:T:C Identity +NM_001278511.2:c.2243A>G NP_001265440.1:p.Glu748Gly NC_000015.10:82663840:T:C p.(Glu748Gly) NC_000015.10:82663840:T:C p.(Glu748Gly) NC_000015.10:82663840:T:C Identity +NM_024928.5:c.656A>G NP_079204.2:p.Asn219Ser NC_000010.11:103897644:T:C p.(Asn219Ser) NC_000010.11:103897644:T:C p.(Asn219Ser) NC_000010.11:103897644:T:C Identity +NM_001277961.3:c.722T>C NP_001264890.1:p.Met241Thr NC_000011.10:4070133:T:C p.(Met241Thr) NC_000011.10:4070133:T:C p.(Met241Thr) NC_000011.10:4070133:T:C Identity +NM_001271938.2:c.5617C>A NP_001258867.1:p.Pro1873Thr NC_000019.10:42360902:C:A p.(Pro1873Thr) NC_000019.10:42360902:C:A p.(Pro1873Thr) NC_000019.10:42360902:C:A Identity +NM_001375654.1:c.271A>G NP_001362583.1:p.Ser91Gly NC_000008.11:54621236:A:G p.(Ser91Gly) NC_000008.11:54621236:A:G p.(Ser91Gly) NC_000008.11:54621236:A:G Identity +NM_001369.3:c.2039C>T NP_001360.1:p.Ala680Val NC_000005.10:13901264:G:A p.(Ala680Val) NC_000005.10:13901264:G:A p.(Ala680Val) NC_000005.10:13901264:G:A Identity +NM_000492.4:c.3185T>C NP_000483.3:p.Leu1062Pro NC_000007.14:117611625:T:C p.(Leu1062Pro) NC_000007.14:117611625:T:C p.(Leu1062Pro) NC_000007.14:117611625:T:C Identity +NM_018848.3:c.1261A>G NP_061336.1:p.Ile421Val NC_000020.11:10407626:T:C p.(Ile421Val) NC_000020.11:10407626:T:C p.(Ile421Val) NC_000020.11:10407626:T:C Identity +NM_003079.5:c.1090C>G NP_003070.3:p.Pro364Ala NC_000017.11:40628930:G:C p.(Pro364Ala) NC_000017.11:40628930:G:C p.(Pro364Ala) NC_000017.11:40628930:G:C Identity +NM_001142415.2:c.934A>C NP_001135887.1:p.Lys312Gln NC_000004.12:106347686:A:C p.(Lys312Gln) NC_000004.12:106347686:A:C p.(Lys312Gln) NC_000004.12:106347686:A:C Identity +NM_005477.3:c.1858G>A NP_005468.1:p.Asp620Asn NC_000015.10:73325074:C:T p.(Asp620Asn) NC_000015.10:73325074:C:T p.(Asp620Asn) NC_000015.10:73325074:C:T Identity +NM_001377292.1:c.311T>C NP_001364221.1:p.Ile104Thr NC_000003.12:192170462:A:G p.(Ile104Thr) NC_000003.12:192170462:A:G p.(Ile104Thr) NC_000003.12:192170462:A:G Identity +NM_001321851.1:c.4802C>T NP_001308780.1:p.Ala1601Val NC_000014.9:91999326:G:A p.(Ala1601Val) NC_000014.9:91999326:G:A p.(Ala1601Val) NC_000014.9:91999326:G:A Identity +NM_001080467.3:c.1136G>A NP_001073936.1:p.Arg379His NC_000018.10:49974535:C:T p.(Arg379His) NC_000018.10:49974535:C:T p.(Arg379His) NC_000018.10:49974535:C:T Identity +NM_052854.4:c.706C>T NP_443086.1:p.Arg236Cys NC_000011.10:46311141:C:T p.(Arg236Cys) NC_000011.10:46311141:C:T p.(Arg236Cys) NC_000011.10:46311141:C:T Identity +NM_001077494.3:c.1369A>G NP_001070962.1:p.Ser457Gly NC_000010.11:102399617:A:G p.(Ser457Gly) NC_000010.11:102399617:A:G p.(Ser457Gly) NC_000010.11:102399617:A:G Identity +NM_005257.6:c.157G>A NP_005248.2:p.Gly53Ser NC_000018.10:22171300:G:A p.(Gly53Ser) NC_000018.10:22171300:G:A p.(Gly53Ser) NC_000018.10:22171300:G:A Identity +NM_001159772.2:c.529C>T NP_001153244.1:p.Leu177Phe NC_000017.11:78997093:G:A p.(Leu177Phe) NC_000017.11:78997093:G:A p.(Leu177Phe) NC_000017.11:78997093:G:A Identity +NM_000449.4:c.1301C>G NP_000440.1:p.Ala434Gly NC_000001.11:151342735:G:C p.(Ala434Gly) NC_000001.11:151342735:G:C p.(Ala434Gly) NC_000001.11:151342735:G:C Identity +NM_019098.5:c.566G>A NP_061971.3:p.Trp189Ter NC_000008.11:86668095:C:T p.(Trp189Ter) NC_000008.11:86668095:C:T p.(Trp189Ter) NC_000008.11:86668095:C:T Identity +NM_001171184.2:c.46C>T NP_001164655.1:p.Arg16Cys NC_000023.11:101236021:C:T p.(Arg16Cys) NC_000023.11:101236021:C:T p.(Arg16Cys) NC_000023.11:101236021:C:T Identity +NM_001363857.1:c.742A>T NP_001350786.1:p.Ile248Phe NC_000003.12:139352778:A:T p.(Ile248Phe) NC_000003.12:139352778:A:T p.(Ile248Phe) NC_000003.12:139352778:A:T Identity +NM_017547.4:c.1321G>A NP_060017.1:p.Gly441Arg NC_000011.10:126277548:G:A p.(Gly441Arg) NC_000011.10:126277548:G:A p.(Gly441Arg) NC_000011.10:126277548:G:A Identity +NM_002661.5:c.183C>G NP_002652.2:p.Ile61Met NC_000016.10:81786171:C:G p.(Ile61Met) NC_000016.10:81786171:C:G p.(Ile61Met) NC_000016.10:81786171:C:G Identity +NM_004656.4:c.1786del NP_004647.1:p.Ser596fs NC_000003.12:52403241:T: p.(Ser596AlafsTer21) NC_000003.12:52403241:T: p.(Ser596AlafsTer21) NC_000003.12:52403241:T: Analogous +NM_001308301.1:c.1088T>A NP_001295230.1:p.Met363Lys NC_000016.10:46712650:A:T p.(Met363Lys) NC_000016.10:46712650:A:T p.(Met363Lys) NC_000016.10:46712650:A:T Identity +NM_000094.4:c.4274T>C NP_000085.1:p.Leu1425Pro NC_000003.12:48583903:A:G p.(Leu1425Pro) NC_000003.12:48583903:A:G p.(Leu1425Pro) NC_000003.12:48583903:A:G Identity +NM_001319945.2:c.224T>C NP_001306874.1:p.Leu75Pro NC_000017.11:44074164:T:C p.(Leu75Pro) NC_000017.11:44074164:T:C p.(Leu75Pro) NC_000017.11:44074164:T:C Identity +NM_000334.4:c.1723G>A NP_000325.4:p.Val575Ile NC_000017.11:63961314:C:T p.(Val575Ile) NC_000017.11:63961314:C:T p.(Val575Ile) NC_000017.11:63961314:C:T Identity +NM_002246.3:c.167A>T NP_002237.1:p.Gln56Leu NC_000002.12:26693041:A:T p.(Gln56Leu) NC_000002.12:26693041:A:T p.(Gln56Leu) NC_000002.12:26693041:A:T Identity +NM_004963.4:c.2890G>A NP_004954.2:p.Val964Met NC_000012.12:14616712:C:T p.(Val964Met) NC_000012.12:14616712:C:T p.(Val964Met) NC_000012.12:14616712:C:T Identity +NM_024592.5:c.100C>G NP_078868.1:p.Leu34Val NC_000004.12:55346435:C:G p.(Leu34Val) NC_000004.12:55346435:C:G p.(Leu34Val) NC_000004.12:55346435:C:G Identity +NM_001330454.2:c.696G>T NP_001317383.1:p.Glu232Asp NC_000016.10:3520018:G:T p.(Glu232Asp) NC_000016.10:3520018:G:T p.(Glu232Asp) NC_000016.10:3520018:G:T Identity +NM_015662.3:c.3071A>G NP_056477.1:p.His1024Arg NC_000002.12:27457880:T:C p.(His1024Arg) NC_000002.12:27457880:T:C p.(His1024Arg) NC_000002.12:27457880:T:C Identity +NM_000417.3:c.797G>A NP_000408.1:p.Arg266Lys NC_000010.11:6012893:C:T p.(Arg266Lys) NC_000010.11:6012893:C:T p.(Arg266Lys) NC_000010.11:6012893:C:T Identity +NM_001385198.1:c.3235G>C NP_001372127.1:p.Glu1079Gln NC_000019.10:10351095:C:G p.(Glu1079Gln) NC_000019.10:10351095:C:G p.(Glu1079Gln) NC_000019.10:10351095:C:G Identity +NM_006946.4:c.1364T>C NP_008877.2:p.Leu455Pro NC_000011.10:66707804:A:G p.(Leu455Pro) NC_000011.10:66707804:A:G p.(Leu455Pro) NC_000011.10:66707804:A:G Identity +NM_002439.5:c.133G>A NP_002430.3:p.Asp45Asn NC_000005.10:80654859:G:A p.(Asp45Asn) NC_000005.10:80654859:G:A p.(Asp45Asn) NC_000005.10:80654859:G:A Identity +NM_004370.6:c.27_42del NP_004361.3:p.Ala10fs NC_000006.12:75202750:CGCGCCCAGGGCGGCA: p.(Ala10ProfsTer17) NC_000006.12:75202750:CGCGCCCAGGGCGGCA: p.(Ala10ProfsTer17) NC_000006.12:75202750:CGCGCCCAGGGCGGCA: Analogous +NM_001077690.1:c.1363A>G NP_001071158.1:p.Ile455Val NC_000011.10:111837555:T:C p.(Ile455Val) NC_000011.10:111837555:T:C p.(Ile455Val) NC_000011.10:111837555:T:C Identity +NM_003172.4:c.58_59dup NP_003163.1:p.Ala21fs NC_000009.12:133356315:GGGG:GGGGGG p.(Ala21ArgfsTer52) NC_000009.12:133356315:GGGG:GGGGGG p.(Ala21ArgfsTer52) ERR:SPDI Analogous +NM_173354.5:c.2038G>A NP_775490.2:p.Ala680Thr NC_000021.9:43417055:C:T p.(Ala680Thr) NC_000021.9:43417055:C:T p.(Ala680Thr) NC_000021.9:43417055:C:T Identity +NM_000168.6:c.1159T>C NP_000159.3:p.Phe387Leu NC_000007.14:42026281:A:G p.(Phe387Leu) NC_000007.14:42026281:A:G p.(Phe387Leu) NC_000007.14:42026281:A:G Identity +NM_001032283.3:c.331G>C NP_001027454.1:p.Asp111His NC_000012.12:98527936:G:C p.(Asp111His) NC_000012.12:98527936:G:C p.(Asp111His) NC_000012.12:98527936:G:C Identity +NM_001304482.2:c.1527_1528delinsAG NP_001291411.1:p.Gln510Glu NC_000003.12:47409523:GC:AG p.(Gln510Glu) NC_000003.12:47409523:GC:AG p.(Gln510Glu) NC_000003.12:47409523:GC:AG Identity +NM_001388492.1:c.3112G>A NP_001375421.1:p.Val1038Ile NC_000004.12:3145196:G:A p.(Val1038Ile) NC_000004.12:3145196:G:A p.(Val1038Ile) NC_000004.12:3145196:G:A Identity +NM_007317.3:c.80G>A NP_015556.1:p.Arg27His NC_000016.10:29796901:G:A p.(Arg27His) NC_000016.10:29796901:G:A p.(Arg27His) NC_000016.10:29796901:G:A Identity +NM_001098802.3:c.1823C>G NP_001092272.1:p.Ala608Gly NC_000009.12:78265880:C:G p.(Ala608Gly) NC_000009.12:78265880:C:G p.(Ala608Gly) NC_000009.12:78265880:C:G Identity +NM_000878.5:c.1631G>A NP_000869.1:p.Gly544Asp NC_000022.11:37128120:C:T p.(Gly544Asp) NC_000022.11:37128120:C:T p.(Gly544Asp) NC_000022.11:37128120:C:T Identity +NM_001943.5:c.335A>G NP_001934.2:p.Asn112Ser NC_000018.10:31520920:A:G p.(Asn112Ser) NC_000018.10:31520920:A:G p.(Asn112Ser) NC_000018.10:31520920:A:G Identity +NM_001347701.2:c.2285A>G NP_001334630.1:p.His762Arg NC_000006.12:152135212:T:C p.(His762Arg) NC_000006.12:152135212:T:C p.(His762Arg) NC_000006.12:152135212:T:C Identity +NM_207346.3:c.103dup NP_997229.2:p.Gln35fs NC_000017.11:75516788:CCCC:CCCCC p.(Gln35ProfsTer147) NC_000017.11:75516788:CCCC:CCCCC p.(Gln35ProfsTer147) ERR:SPDI Analogous +NM_000076.2:c.37G>A NP_000067.1:p.Glu13Lys NC_000011.10:2885452:C:T p.(Glu13Lys) NC_000011.10:2885452:C:T p.(Glu13Lys) NC_000011.10:2885452:C:T Identity +NM_001143850.3:c.2002G>A NP_001137322.1:p.Val668Ile NC_000012.12:123707623:G:A p.(Val668Ile) NC_000012.12:123707623:G:A p.(Val668Ile) NC_000012.12:123707623:G:A Identity +NM_001293557.2:c.2625G>T NP_001280486.1:p.Gln875His NC_000016.10:50719999:G:T p.(Gln875His) NC_000016.10:50719999:G:T p.(Gln875His) NC_000016.10:50719999:G:T Identity +NM_022915.5:c.92T>A NP_075066.1:p.Val31Glu NC_000002.12:223957563:T:A p.(Val31Glu) NC_000002.12:223957563:T:A p.(Val31Glu) NC_000002.12:223957563:T:A Identity +NM_000244.4:c.1418A>G NP_000235.3:p.Glu473Gly NC_000011.10:64804763:T:C p.(Glu473Gly) NC_000011.10:64804763:T:C p.(Glu473Gly) NC_000011.10:64804763:T:C Identity +NM_001323956.2:c.484T>A NP_001310885.1:p.Cys162Ser NC_000020.11:422202:T:A p.(Cys162Ser) NC_000020.11:422202:T:A p.(Cys162Ser) NC_000020.11:422202:T:A Identity +NM_000138.5:c.131G>A NP_000129.3:p.Arg44Lys NC_000015.10:48644638:C:T p.(Arg44Lys) NC_000015.10:48644638:C:T p.(Arg44Lys) NC_000015.10:48644638:C:T Identity +NM_001244134.1:c.1367A>G NP_001231063.1:p.Asn456Ser NC_000010.11:30460798:A:G p.(Asn456Ser) NC_000010.11:30460798:A:G p.(Asn456Ser) NC_000010.11:30460798:A:G Identity +NM_018941.4:c.50A>T NP_061764.2:p.Asp17Val NC_000008.11:1771103:A:T p.(Asp17Val) NC_000008.11:1771103:A:T p.(Asp17Val) NC_000008.11:1771103:A:T Identity +NM_207361.6:c.7883G>A NP_997244.4:p.Arg2628Gln NC_000013.11:38864505:G:A p.(Arg2628Gln) NC_000013.11:38864505:G:A p.(Arg2628Gln) NC_000013.11:38864505:G:A Identity +NM_033124.5:c.242T>C NP_149115.2:p.Ile81Thr NC_000012.12:48905054:T:C p.(Ile81Thr) NC_000012.12:48905054:T:C p.(Ile81Thr) NC_000012.12:48905054:T:C Identity +NM_002700.3:c.779G>A NP_002691.1:p.Arg260Gln NC_000005.10:146340205:G:A p.(Arg260Gln) NC_000005.10:146340205:G:A p.(Arg260Gln) NC_000005.10:146340205:G:A Identity +NM_001165963.4:c.460A>G NP_001159435.1:p.Thr154Ala NC_000002.12:166056423:T:C p.(Thr154Ala) NC_000002.12:166056423:T:C p.(Thr154Ala) NC_000002.12:166056423:T:C Identity +NM_001378454.1:c.3734C>G NP_001365383.1:p.Pro1245Arg NC_000002.12:73450260:C:G p.(Pro1245Arg) NC_000002.12:73450260:C:G p.(Pro1245Arg) NC_000002.12:73450260:C:G Identity +NM_001407622.1:c.2024C>T NP_001394551.1:p.Ala675Val NC_000017.11:43093506:G:A p.(Ala675Val) NC_000017.11:43093506:G:A p.(Ala675Val) NC_000017.11:43093506:G:A Identity +NM_001099271.2:c.599A>G NP_001092741.1:p.His200Arg NC_000005.10:75694745:T:C p.(His200Arg) NC_000005.10:75694745:T:C p.(His200Arg) NC_000005.10:75694745:T:C Identity +NM_001297438.2:c.98G>A NP_001284367.1:p.Arg33Gln NC_000012.12:6466255:C:T p.(Arg33Gln) NC_000012.12:6466255:C:T p.(Arg33Gln) NC_000012.12:6466255:C:T Identity +NM_001252127.2:c.1851G>C NP_001239056.1:p.Glu617Asp NC_000015.10:50984130:G:C p.(Glu617Asp) NC_000015.10:50984130:G:C p.(Glu617Asp) NC_000015.10:50984130:G:C Identity +NM_001079812.3:c.170C>G NP_001073280.1:p.Ser57Cys NC_000005.10:141587144:G:C p.(Ser57Cys) NC_000005.10:141587144:G:C p.(Ser57Cys) NC_000005.10:141587144:G:C Identity +NM_001318245.2:c.662T>C NP_001305174.1:p.Leu221Pro NC_000022.11:25768577:T:C p.(Leu221Pro) NC_000022.11:25768577:T:C p.(Leu221Pro) NC_000022.11:25768577:T:C Identity +NM_000069.3:c.3463G>A NP_000060.2:p.Val1155Met NC_000001.11:201059250:C:T p.(Val1155Met) NC_000001.11:201059250:C:T p.(Val1155Met) NC_000001.11:201059250:C:T Identity +NM_001113178.3:c.903_904delinsAT NP_001106649.1:p.Ile302Leu NC_000016.10:69653325:GA:AT p.(Ile302Leu) NC_000016.10:69653325:GA:AT p.(Ile302Leu) NC_000016.10:69653325:GA:AT Identity +NM_006269.2:c.3428A>G NP_006260.1:p.Asn1143Ser NC_000008.11:54627309:A:G p.(Asn1143Ser) NC_000008.11:54627309:A:G p.(Asn1143Ser) NC_000008.11:54627309:A:G Identity +NM_000489.6:c.142A>T NP_000480.3:p.Ser48Cys NC_000023.11:77698620:T:A p.(Ser48Cys) NC_000023.11:77698620:T:A p.(Ser48Cys) NC_000023.11:77698620:T:A Identity +NM_003482.4:c.5618C>T NP_003473.3:p.Ser1873Phe NC_000012.12:49043101:G:A p.(Ser1873Phe) NC_000012.12:49043101:G:A p.(Ser1873Phe) NC_000012.12:49043101:G:A Identity +NM_006231.4:c.2100del NP_006222.2:p.Glu701fs NC_000012.12:132668428:T: p.(Glu701ArgfsTer91) NC_000012.12:132668428:T: p.(Glu701ArgfsTer91) NC_000012.12:132668428:T: Analogous +NM_005188.4:c.1028G>A NP_005179.2:p.Arg343Gln NC_000011.10:119277776:G:A p.(Arg343Gln) NC_000011.10:119277776:G:A p.(Arg343Gln) NC_000011.10:119277776:G:A Identity +NM_001139490.1:c.625G>A NP_001132962.1:p.Gly209Arg NC_000002.12:238329051:G:A p.(Gly209Arg) NC_000002.12:238329051:G:A p.(Gly209Arg) NC_000002.12:238329051:G:A Identity +NM_000277.3:c.36del NP_000268.1:p.Arg13fs NC_000012.12:102917094:G: p.(Arg13GlyfsTer25) NC_000012.12:102917094:G: p.(Arg13GlyfsTer25) NC_000012.12:102917094:G: Analogous +NM_015909.4:c.3884A>G NP_056993.2:p.His1295Arg NC_000002.12:15356349:T:C p.(His1295Arg) NC_000002.12:15356349:T:C p.(His1295Arg) NC_000002.12:15356349:T:C Identity +NM_001100913.3:c.598G>A NP_001094383.2:p.Glu200Lys NC_000014.9:105368084:G:A p.(Glu200Lys) NC_000014.9:105368084:G:A p.(Glu200Lys) NC_000014.9:105368084:G:A Identity +NM_001098511.3:c.757G>C NP_001091981.1:p.Val253Leu NC_000005.10:62358183:G:C p.(Val253Leu) NC_000005.10:62358183:G:C p.(Val253Leu) NC_000005.10:62358183:G:C Identity +NM_002238.4:c.2187A>C NP_002229.1:p.Arg729Ser NC_000001.11:210683982:T:G p.(Arg729Ser) NC_000001.11:210683982:T:G p.(Arg729Ser) NC_000001.11:210683982:T:G Identity +NM_001378454.1:c.9116C>T NP_001365383.1:p.Ser3039Leu NC_000002.12:73491074:C:T p.(Ser3039Leu) NC_000002.12:73491074:C:T p.(Ser3039Leu) NC_000002.12:73491074:C:T Identity +NM_000454.5:c.93G>C NP_000445.1:p.Lys31Asn NC_000021.9:31663809:G:C p.(Lys31Asn) NC_000021.9:31663809:G:C p.(Lys31Asn) NC_000021.9:31663809:G:C Identity +NM_000069.3:c.4461C>A NP_000060.2:p.Asn1487Lys NC_000001.11:201047606:G:T p.(Asn1487Lys) NC_000001.11:201047606:G:T p.(Asn1487Lys) NC_000001.11:201047606:G:T Identity +NM_001195573.1:c.3460A>G NP_001182502.1:p.Arg1154Gly NC_000014.9:95103935:T:C p.(Arg1154Gly) NC_000014.9:95103935:T:C p.(Arg1154Gly) NC_000014.9:95103935:T:C Identity +NM_006876.3:c.1240C>T NP_006867.1:p.Arg414Cys NC_000011.10:66346056:G:A p.(Arg414Cys) NC_000011.10:66346056:G:A p.(Arg414Cys) NC_000011.10:66346056:G:A Identity +NM_001174116.3:c.7840C>G NP_001167587.1:p.Arg2614Gly NC_000015.10:51463464:G:C p.(Arg2614Gly) NC_000015.10:51463464:G:C p.(Arg2614Gly) NC_000015.10:51463464:G:C Identity +NM_001308133.2:c.1627C>A NP_001295062.1:p.Arg543Ser NC_000014.9:45164481:C:A p.(Arg543Ser) NC_000014.9:45164481:C:A p.(Arg543Ser) NC_000014.9:45164481:C:A Identity +NM_178012.5:c.741C>G NP_821080.1:p.Asn247Lys NC_000006.12:3225347:G:C p.(Asn247Lys) NC_000006.12:3225347:G:C p.(Asn247Lys) NC_000006.12:3225347:G:C Identity +NM_004525.3:c.7060T>C NP_004516.2:p.Ser2354Pro NC_000002.12:169206659:A:G p.(Ser2354Pro) NC_000002.12:169206659:A:G p.(Ser2354Pro) NC_000002.12:169206659:A:G Identity +NM_001146289.2:c.874C>G NP_001139761.1:p.Arg292Gly NC_000001.11:42758917:G:C p.(Arg292Gly) NC_000001.11:42758917:G:C p.(Arg292Gly) NC_000001.11:42758917:G:C Identity +NM_000535.7:c.335G>C NP_000526.2:p.Ser112Thr NC_000007.14:6003707:C:G p.(Ser112Thr) NC_000007.14:6003707:C:G p.(Ser112Thr) NC_000007.14:6003707:C:G Identity +NM_144670.6:c.158C>T NP_653271.3:p.Thr53Met NC_000012.12:8823276:C:T p.(Thr53Met) NC_000012.12:8823276:C:T p.(Thr53Met) NC_000012.12:8823276:C:T Identity +NM_001034194.2:c.685C>T NP_001029366.1:p.Arg229Ter NC_000004.12:121810045:C:T p.(Arg229Ter) NC_000004.12:121810045:C:T p.(Arg229Ter) NC_000004.12:121810045:C:T Identity +NM_001365999.1:c.5082G>C NP_001352928.1:p.Met1694Ile NC_000001.11:43431516:G:C p.(Met1694Ile) NC_000001.11:43431516:G:C p.(Met1694Ile) NC_000001.11:43431516:G:C Identity +NM_001127207.2:c.426G>C NP_001120679.1:p.Glu142Asp NC_000002.12:216415129:G:C p.(Glu142Asp) NC_000002.12:216415129:G:C p.(Glu142Asp) NC_000002.12:216415129:G:C Identity +NM_001008844.3:c.4037G>A NP_001008844.1:p.Arg1346His NC_000006.12:7583095:G:A p.(Arg1346His) NC_000006.12:7583095:G:A p.(Arg1346His) NC_000006.12:7583095:G:A Identity +NM_001363227.2:c.827C>G NP_001350156.1:p.Thr276Arg NC_000008.11:43173718:C:G p.(Thr276Arg) NC_000008.11:43173718:C:G p.(Thr276Arg) NC_000008.11:43173718:C:G Identity +NM_001354705.2:c.990G>T NP_001341634.1:p.Glu330Asp NC_000012.12:57570125:G:T p.(Glu330Asp) NC_000012.12:57570125:G:T p.(Glu330Asp) NC_000012.12:57570125:G:T Identity +NM_022114.4:c.3266C>T NP_071397.3:p.Ser1089Leu NC_000001.11:3426206:C:T p.(Ser1089Leu) NC_000001.11:3426206:C:T p.(Ser1089Leu) NC_000001.11:3426206:C:T Identity +NM_005933.4:c.10432C>A NP_005924.2:p.Pro3478Thr NC_000011.10:118506332:C:A p.(Pro3478Thr) NC_000011.10:118506332:C:A p.(Pro3478Thr) NC_000011.10:118506332:C:A Identity +NM_001039885.3:c.1171G>C NP_001034974.1:p.Gly391Arg NC_000019.10:46756620:G:C p.(Gly391Arg) NC_000019.10:46756620:G:C p.(Gly391Arg) NC_000019.10:46756620:G:C Identity +NM_001261406.2:c.1022G>A NP_001248335.1:p.Arg341His NC_000009.12:13219622:C:T p.(Arg341His) NC_000009.12:13219622:C:T p.(Arg341His) NC_000009.12:13219622:C:T Identity +NM_001164617.2:c.53T>C NP_001158089.1:p.Leu18Ser NC_000023.11:133985396:A:G p.(Leu18Ser) NC_000023.11:133985396:A:G p.(Leu18Ser) NC_000023.11:133985396:A:G Identity +NM_001278268.2:c.1280A>G NP_001265197.1:p.Asn427Ser NC_000018.10:62369238:A:G p.(Asn427Ser) NC_000018.10:62369238:A:G p.(Asn427Ser) NC_000018.10:62369238:A:G Identity +NM_017613.4:c.1135A>G NP_060083.1:p.Ile379Val NC_000021.9:33581966:T:C p.(Ile379Val) NC_000021.9:33581966:T:C p.(Ile379Val) NC_000021.9:33581966:T:C Identity +NM_001011554.3:c.1224G>T NP_001011554.1:p.Gln408His NC_000020.11:46566357:C:A p.(Gln408His) NC_000020.11:46566357:C:A p.(Gln408His) NC_000020.11:46566357:C:A Identity +NM_153240.5:c.185G>A NP_694972.3:p.Arg62His NC_000003.12:132722170:C:T p.(Arg62His) NC_000003.12:132722170:C:T p.(Arg62His) NC_000003.12:132722170:C:T Identity +NM_001081640.2:c.6048T>G NP_001075109.1:p.Asn2016Lys NC_000008.11:47860908:A:C p.(Asn2016Lys) NC_000008.11:47860908:A:C p.(Asn2016Lys) NC_000008.11:47860908:A:C Identity +NM_005687.5:c.380G>A NP_005678.3:p.Arg127His NC_000002.12:222639654:C:T p.(Arg127His) NC_000002.12:222639654:C:T p.(Arg127His) NC_000002.12:222639654:C:T Identity +NM_001282279.2:c.809_810inv NP_001269208.1:p.Ser270Leu NC_000017.11:81933270:TG:CA p.(Ser270Leu) NC_000017.11:81933270:TG:CA p.(Ser270Leu) ERR:SPDI Identity +NM_002500.5:c.496G>A NP_002491.3:p.Val166Ile NC_000002.12:181678364:C:T p.(Val166Ile) NC_000002.12:181678364:C:T p.(Val166Ile) NC_000002.12:181678364:C:T Identity +NM_004415.4:c.5063_5072del NP_004406.2:p.Ala1688fs NC_000006.12:7581252:CGATAGAAGA: p.(Ala1688ValfsTer6) NC_000006.12:7581252:CGATAGAAGA: p.(Ala1688ValfsTer6) NC_000006.12:7581252:CGATAGAAGA: Analogous +NM_000136.3:c.718G>A NP_000127.2:p.Val240Ile NC_000009.12:95135470:C:T p.(Val240Ile) NC_000009.12:95135470:C:T p.(Val240Ile) NC_000009.12:95135470:C:T Identity +NM_001177316.2:c.497G>A NP_001170787.2:p.Gly166Asp NC_000009.12:137233051:G:A p.(Gly166Asp) NC_000009.12:137233051:G:A p.(Gly166Asp) NC_000009.12:137233051:G:A Identity +NM_001127505.3:c.766A>T NP_001120977.1:p.Ser256Cys NC_000008.11:18061377:T:A p.(Ser256Cys) NC_000008.11:18061377:T:A p.(Ser256Cys) NC_000008.11:18061377:T:A Identity +NM_000138.5:c.8330T>A NP_000129.3:p.Ile2777Asn NC_000015.10:48411275:A:T p.(Ile2777Asn) NC_000015.10:48411275:A:T p.(Ile2777Asn) NC_000015.10:48411275:A:T Identity +NM_004281.4:c.761A>G NP_004272.2:p.Asp254Gly NC_000010.11:119672507:A:G p.(Asp254Gly) NC_000010.11:119672507:A:G p.(Asp254Gly) NC_000010.11:119672507:A:G Identity +NM_000834.5:c.3148A>G NP_000825.2:p.Ser1050Gly NC_000012.12:13564089:T:C p.(Ser1050Gly) NC_000012.12:13564089:T:C p.(Ser1050Gly) NC_000012.12:13564089:T:C Identity +NM_199242.3:c.3193C>G NP_954712.1:p.Arg1065Gly NC_000017.11:75828044:G:C p.(Arg1065Gly) NC_000017.11:75828044:G:C p.(Arg1065Gly) NC_000017.11:75828044:G:C Identity +NM_206933.4:c.14487del NP_996816.3:p.Ser4830fs NC_000001.11:215648622:GGG:GG p.(Ser4830GlnfsTer54) NC_000001.11:215648622:GGG:GG p.(Ser4830GlnfsTer54) NC_000001.11:215648622:G: Analogous +NM_001256959.2:c.1108G>T NP_001243888.2:p.Ala370Ser NC_000001.11:11829247:G:T p.(Ala370Ser) NC_000001.11:11829247:G:T p.(Ala370Ser) NC_000001.11:11829247:G:T Identity +NM_001305624.1:c.532G>A NP_001292553.1:p.Asp178Asn NC_000002.12:47161755:C:T p.(Asp178Asn) NC_000002.12:47161755:C:T p.(Asp178Asn) NC_000002.12:47161755:C:T Identity +NM_001280541.2:c.3170A>G NP_001267470.1:p.Asn1057Ser NC_000003.12:129515524:A:G p.(Asn1057Ser) NC_000003.12:129515524:A:G p.(Asn1057Ser) NC_000003.12:129515524:A:G Identity +NM_001243925.2:c.319A>G NP_001230854.1:p.Met107Val NC_000003.12:50640464:A:G p.(Met107Val) NC_000003.12:50640464:A:G p.(Met107Val) NC_000003.12:50640464:A:G Identity +NM_000193.4:c.1331C>T NP_000184.1:p.Thr444Ile NC_000007.14:155802957:G:A p.(Thr444Ile) NC_000007.14:155802957:G:A p.(Thr444Ile) NC_000007.14:155802957:G:A Identity +NM_000548.5:c.3193A>G NP_000539.2:p.Lys1065Glu NC_000016.10:2079336:A:G p.(Lys1065Glu) NC_000016.10:2079336:A:G p.(Lys1065Glu) NC_000016.10:2079336:A:G Identity +NM_000088.4:c.4192A>T NP_000079.2:p.Ile1398Phe NC_000017.11:50185833:T:A p.(Ile1398Phe) NC_000017.11:50185833:T:A p.(Ile1398Phe) NC_000017.11:50185833:T:A Identity +NM_015311.3:c.5510del NP_056126.1:p.Gly1837fs NC_000002.12:219551701:CCCCCC:CCCCC p.(Gly1837AlafsTer57) NC_000002.12:219551701:CCCCCC:CCCCC p.(Gly1837AlafsTer57) NC_000002.12:219551701:C: Analogous +NM_001440.4:c.1465C>T NP_001431.1:p.Arg489Cys NC_000008.11:28717523:C:T p.(Arg489Cys) NC_000008.11:28717523:C:T p.(Arg489Cys) NC_000008.11:28717523:C:T Identity +NM_000076.2:c.593C>T NP_000067.1:p.Pro198Leu NC_000011.10:2884896:G:A p.(Pro198Leu) NC_000011.10:2884896:G:A p.(Pro198Leu) NC_000011.10:2884896:G:A Identity +NM_001384372.1:c.946A>C NP_001371301.1:p.Thr316Pro NC_000019.10:17775455:A:C p.(Thr316Pro) NC_000019.10:17775455:A:C p.(Thr316Pro) NC_000019.10:17775455:A:C Identity +LRG_9t1:c.199A>G LRG_9p1:p.Thr67Ala NC_000011.10:112088895:A:G ERR:Data provider error: ValueError: Transcript LRG_9t1 not found ERR:Data provider error: ValueError: Transcript LRG_9t1 not found ERR:AlignmentMapper(tx_ac=LRG_9t1, alt_ac=LRG_9t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_9t1, alt_ac=LRG_9t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_9t1 not found +NM_004444.5:c.1576A>G NP_004435.3:p.Thr526Ala NC_000007.14:100817203:T:C p.(Thr526Ala) NC_000007.14:100817203:T:C p.(Thr526Ala) NC_000007.14:100817203:T:C Identity +NM_198578.4:c.6752A>C NP_940980.4:p.Asn2251Thr NC_000012.12:40354473:A:C p.(Asn2251Thr) NC_000012.12:40354473:A:C p.(Asn2251Thr) NC_000012.12:40354473:A:C Identity +NM_000082.4:c.1148C>T NP_000073.1:p.Pro383Leu NC_000005.10:60874657:G:A p.(Pro383Leu) NC_000005.10:60874657:G:A p.(Pro383Leu) NC_000005.10:60874657:G:A Identity +NM_001134363.3:c.2383C>A NP_001127835.2:p.His795Asn NC_000010.11:110812779:C:A p.(His795Asn) NC_000010.11:110812779:C:A p.(His795Asn) NC_000010.11:110812779:C:A Identity +NM_001276468.2:c.266C>T NP_001263397.1:p.Pro89Leu NC_000012.12:57631038:G:A p.(Pro89Leu) NC_000012.12:57631038:G:A p.(Pro89Leu) NC_000012.12:57631038:G:A Identity +NM_001540.5:c.576_578del NP_001531.1:p.Gly193del NC_000007.14:76304128:GGGGG:GG p.(Gly193del) NC_000007.14:76304128:GGGGG:GG p.(Gly193del) NC_000007.14:76304130:GGG: Identity +NM_001407571.1:c.741dup NP_001394500.1:p.Asn248Ter NC_000017.11:43094576:A:AA p.(Asn248Ter) NC_000017.11:43094576:A:AA p.(Asn248Ter) ERR:SPDI Identity +NM_002591.4:c.686T>C NP_002582.3:p.Ile229Thr NC_000020.11:57563102:T:C p.(Ile229Thr) NC_000020.11:57563102:T:C p.(Ile229Thr) NC_000020.11:57563102:T:C Identity +NM_001144869.3:c.390G>C NP_001138341.1:p.Gln130His NC_000011.10:74493313:C:G p.(Gln130His) NC_000011.10:74493313:C:G p.(Gln130His) NC_000011.10:74493313:C:G Identity +NM_001365999.1:c.1957G>A NP_001352928.1:p.Val653Ile NC_000001.11:43422802:G:A p.(Val653Ile) NC_000001.11:43422802:G:A p.(Val653Ile) NC_000001.11:43422802:G:A Identity +NM_000263.4:c.1660C>T NP_000254.2:p.Pro554Ser NC_000017.11:42543665:C:T p.(Pro554Ser) NC_000017.11:42543665:C:T p.(Pro554Ser) NC_000017.11:42543665:C:T Identity +NM_001317924.2:c.862G>A NP_001304853.1:p.Val288Ile NC_000004.12:39217225:G:A p.(Val288Ile) NC_000004.12:39217225:G:A p.(Val288Ile) NC_000004.12:39217225:G:A Identity +NM_013334.4:c.1063G>A NP_037466.3:p.Glu355Lys NC_000003.12:49721852:C:T p.(Glu355Lys) NC_000003.12:49721852:C:T p.(Glu355Lys) NC_000003.12:49721852:C:T Identity +NM_001377156.1:c.265A>C NP_001364085.1:p.Thr89Pro NC_000007.14:5741580:T:G p.(Thr89Pro) NC_000007.14:5741580:T:G p.(Thr89Pro) NC_000007.14:5741580:T:G Identity +NM_001286577.2:c.2689G>A NP_001273506.1:p.Gly897Arg NC_000011.10:74100567:C:T p.(Gly897Arg) NC_000011.10:74100567:C:T p.(Gly897Arg) NC_000011.10:74100567:C:T Identity +NM_000038.6:c.5562C>G NP_000029.2:p.Tyr1854Ter NC_000005.10:112841155:C:G p.(Tyr1854Ter) NC_000005.10:112841155:C:G p.(Tyr1854Ter) NC_000005.10:112841155:C:G Identity +NM_001163771.2:c.295C>A NP_001157243.1:p.Pro99Thr NC_000006.12:33189125:G:T p.(Pro99Thr) NC_000006.12:33189125:G:T p.(Pro99Thr) NC_000006.12:33189125:G:T Identity +NM_032444.4:c.4948G>A NP_115820.2:p.Gly1650Arg NC_000016.10:3583301:C:T p.(Gly1650Arg) NC_000016.10:3583301:C:T p.(Gly1650Arg) NC_000016.10:3583301:C:T Identity +NM_024700.4:c.595G>A NP_078976.2:p.Gly199Ser NC_000001.11:37540487:C:T p.(Gly199Ser) NC_000001.11:37540487:C:T p.(Gly199Ser) NC_000001.11:37540487:C:T Identity +NM_001289807.1:c.485C>T NP_001276736.1:p.Thr162Ile NC_000011.10:111908806:G:A p.(Thr162Ile) NC_000011.10:111908806:G:A p.(Thr162Ile) NC_000011.10:111908806:G:A Identity +NM_000540.3:c.10030C>T NP_000531.2:p.Pro3344Ser NC_000019.10:38519224:C:T p.(Pro3344Ser) NC_000019.10:38519224:C:T p.(Pro3344Ser) NC_000019.10:38519224:C:T Identity +NM_001291285.3:c.5441T>C NP_001278214.1:p.Val1814Ala NC_000004.12:125407012:T:C p.(Val1814Ala) NC_000004.12:125407012:T:C p.(Val1814Ala) NC_000004.12:125407012:T:C Identity +NM_001365951.3:c.2824G>A NP_001352880.1:p.Asp942Asn NC_000001.11:10326258:G:A p.(Asp942Asn) NC_000001.11:10326258:G:A p.(Asp942Asn) NC_000001.11:10326258:G:A Identity +NM_000539.3:c.608T>C NP_000530.1:p.Phe203Ser NC_000003.12:129532327:T:C p.(Phe203Ser) NC_000003.12:129532327:T:C p.(Phe203Ser) NC_000003.12:129532327:T:C Identity +NM_000388.4:c.3082C>T NP_000379.3:p.Gln1028Ter NC_000003.12:122285035:C:T p.(Gln1028Ter) NC_000003.12:122285035:C:T p.(Gln1028Ter) NC_000003.12:122285035:C:T Identity +NM_000287.4:c.2923C>T NP_000278.3:p.Arg975Cys NC_000006.12:42964354:G:A p.(Arg975Cys) NC_000006.12:42964354:G:A p.(Arg975Cys) NC_000006.12:42964354:G:A Identity +NM_144643.4:c.1597A>G NP_653244.2:p.Ile533Val NC_000004.12:128943030:T:C p.(Ile533Val) NC_000004.12:128943030:T:C p.(Ile533Val) NC_000004.12:128943030:T:C Identity +NM_001254740.2:c.414G>C NP_001241669.1:p.Glu138Asp NC_000015.10:65650581:G:C p.(Glu138Asp) NC_000015.10:65650581:G:C p.(Glu138Asp) NC_000015.10:65650581:G:C Identity +NM_001042473.4:c.434G>A NP_001035938.1:p.Gly145Asp NC_000010.11:27219808:C:T p.(Gly145Asp) NC_000010.11:27219808:C:T p.(Gly145Asp) NC_000010.11:27219808:C:T Identity +NM_001005862.3:c.1369C>T NP_001005862.1:p.Arg457Trp NC_000017.11:39715884:C:T p.(Arg457Trp) NC_000017.11:39715884:C:T p.(Arg457Trp) NC_000017.11:39715884:C:T Identity +NM_001127487.2:c.8071G>T NP_001120959.1:p.Val2691Phe NC_000007.14:128858514:G:T p.(Val2691Phe) NC_000007.14:128858514:G:T p.(Val2691Phe) NC_000007.14:128858514:G:T Identity +NM_000489.6:c.4018C>T NP_000480.3:p.Leu1340Phe NC_000023.11:77663483:G:A p.(Leu1340Phe) NC_000023.11:77663483:G:A p.(Leu1340Phe) NC_000023.11:77663483:G:A Identity +NM_000177.5:c.215G>A NP_000168.1:p.Arg72His NC_000009.12:121302032:G:A p.(Arg72His) NC_000009.12:121302032:G:A p.(Arg72His) NC_000009.12:121302032:G:A Identity +NM_015629.4:c.1118_1143del NP_056444.3:p.Lys373fs NC_000019.10:54128344:CGGAAGCAGGCCAACCGTATGAGCTTCGGA:CGGA p.(Lys373ArgfsTer93) NC_000019.10:54128344:CGGAAGCAGGCCAACCGTATGAGCTTCGGA:CGGA p.(Lys373ArgfsTer93) NC_000019.10:54128348:AGCAGGCCAACCGTATGAGCTTCGGA: Analogous +NM_014845.6:c.19C>T NP_055660.1:p.Pro7Ser NC_000006.12:109691453:C:T p.(Pro7Ser) NC_000006.12:109691453:C:T p.(Pro7Ser) NC_000006.12:109691453:C:T Identity +NM_000456.3:c.237G>C NP_000447.2:p.Gln79His NC_000012.12:56003625:G:C p.(Gln79His) NC_000012.12:56003625:G:C p.(Gln79His) NC_000012.12:56003625:G:C Identity +NM_001127487.2:c.730A>G NP_001120959.1:p.Asn244Asp NC_000007.14:128837427:A:G p.(Asn244Asp) NC_000007.14:128837427:A:G p.(Asn244Asp) NC_000007.14:128837427:A:G Identity +NM_000070.3:c.1796C>A NP_000061.1:p.Thr599Asn NC_000015.10:42405938:C:A p.(Thr599Asn) NC_000015.10:42405938:C:A p.(Thr599Asn) NC_000015.10:42405938:C:A Identity +NM_001369.3:c.13699A>G NP_001360.1:p.Ile4567Val NC_000005.10:13700663:T:C p.(Ile4567Val) NC_000005.10:13700663:T:C p.(Ile4567Val) NC_000005.10:13700663:T:C Identity +NM_000264.5:c.1930C>A NP_000255.2:p.Pro644Thr NC_000009.12:95469070:G:T p.(Pro644Thr) NC_000009.12:95469070:G:T p.(Pro644Thr) NC_000009.12:95469070:G:T Identity +NM_001363711.2:c.2921G>A NP_001350640.1:p.Arg974His NC_000015.10:45101204:C:T p.(Arg974His) NC_000015.10:45101204:C:T p.(Arg974His) NC_000015.10:45101204:C:T Identity +NM_001165963.4:c.1164T>A NP_001159435.1:p.Tyr388Ter NC_000002.12:166047632:A:T p.(Tyr388Ter) NC_000002.12:166047632:A:T p.(Tyr388Ter) NC_000002.12:166047632:A:T Identity +NM_007055.4:c.158A>T NP_008986.2:p.Tyr53Phe NC_000010.11:78026115:T:A p.(Tyr53Phe) NC_000010.11:78026115:T:A p.(Tyr53Phe) NC_000010.11:78026115:T:A Identity +NM_001139490.1:c.796del NP_001132962.1:p.Asp266fs NC_000002.12:238329220:GGG:GG p.(Asp266ThrfsTer17) NC_000002.12:238329220:GGG:GG p.(Asp266ThrfsTer17) NC_000002.12:238329222:G: Analogous +NM_001100913.3:c.2623G>A NP_001094383.2:p.Asp875Asn NC_000014.9:105394579:G:A p.(Asp875Asn) NC_000014.9:105394579:G:A p.(Asp875Asn) NC_000014.9:105394579:G:A Identity +NM_022168.4:c.755C>A NP_071451.2:p.Ser252Tyr NC_000002.12:162306722:G:T p.(Ser252Tyr) NC_000002.12:162306722:G:T p.(Ser252Tyr) NC_000002.12:162306722:G:T Identity +NM_001256267.2:c.1555A>G NP_001243196.1:p.Asn519Asp NC_000010.11:68165772:A:G p.(Asn519Asp) NC_000010.11:68165772:A:G p.(Asn519Asp) NC_000010.11:68165772:A:G Identity +NM_001285829.2:c.353C>T NP_001272758.1:p.Pro118Leu NC_000019.10:33301704:G:A p.(Pro118Leu) NC_000019.10:33301704:G:A p.(Pro118Leu) NC_000019.10:33301704:G:A Identity +NM_000056.5:c.171G>C NP_000047.1:p.Gln57His NC_000006.12:80106863:G:C p.(Gln57His) NC_000006.12:80106863:G:C p.(Gln57His) NC_000006.12:80106863:G:C Identity +NM_001321015.2:c.8A>C NP_001307944.1:p.Asn3Thr NC_000015.10:45369414:T:G p.(Asn3Thr) NC_000015.10:45369414:T:G p.(Asn3Thr) NC_000015.10:45369414:T:G Identity +NM_000227.6:c.4409dup NP_000218.3:p.Arg1472fs NC_000018.10:23946165:AAAA:AAAAA p.(Arg1472AlafsTer83) NC_000018.10:23946165:AAAA:AAAAA p.(Arg1472AlafsTer83) ERR:SPDI Analogous +NM_001029883.3:c.86G>A NP_001025054.1:p.Arg29Gln NC_000002.12:29074175:C:T p.(Arg29Gln) NC_000002.12:29074175:C:T p.(Arg29Gln) NC_000002.12:29074175:C:T Identity +NM_015909.4:c.5677A>G NP_056993.2:p.Ile1893Val NC_000002.12:15275530:T:C p.(Ile1893Val) NC_000002.12:15275530:T:C p.(Ile1893Val) NC_000002.12:15275530:T:C Identity +NM_001367624.2:c.10871G>A NP_001354553.1:p.Arg3624His NC_000016.10:88438340:G:A p.(Arg3624His) NC_000016.10:88438340:G:A p.(Arg3624His) NC_000016.10:88438340:G:A Identity +NM_001077416.2:c.1078C>T NP_001070884.2:p.Arg360Trp NC_000016.10:75540025:G:A p.(Arg360Trp) NC_000016.10:75540025:G:A p.(Arg360Trp) NC_000016.10:75540025:G:A Identity +NM_024105.4:c.713C>T NP_077010.1:p.Pro238Leu NC_000022.11:49909298:G:A p.(Pro238Leu) NC_000022.11:49909298:G:A p.(Pro238Leu) NC_000022.11:49909298:G:A Identity +NM_000065.5:c.823G>A NP_000056.2:p.Gly275Arg NC_000005.10:41181462:C:T p.(Gly275Arg) NC_000005.10:41181462:C:T p.(Gly275Arg) NC_000005.10:41181462:C:T Identity +NM_000077.5:c.73G>T NP_000068.1:p.Val25Leu NC_000009.12:21974754:C:A p.(Val25Leu) NC_000009.12:21974754:C:A p.(Val25Leu) NC_000009.12:21974754:C:A Identity +NM_000052.7:c.2212G>A NP_000043.4:p.Ala738Thr NC_000023.11:78012917:G:A p.(Ala738Thr) NC_000023.11:78012917:G:A p.(Ala738Thr) NC_000023.11:78012917:G:A Identity +NM_001173431.2:c.4060G>A NP_001166902.1:p.Val1354Met NC_000002.12:219557348:C:T p.(Val1354Met) NC_000002.12:219557348:C:T p.(Val1354Met) NC_000002.12:219557348:C:T Identity +NM_207352.4:c.1318C>T NP_997235.3:p.Gln440Ter NC_000004.12:186209184:C:T p.(Gln440Ter) NC_000004.12:186209184:C:T p.(Gln440Ter) NC_000004.12:186209184:C:T Identity +NM_001250.6:c.22T>G NP_001241.1:p.Cys8Gly NC_000020.11:46118364:T:G p.(Cys8Gly) NC_000020.11:46118364:T:G p.(Cys8Gly) NC_000020.11:46118364:T:G Identity +NM_001190879.3:c.1202T>C NP_001177808.1:p.Leu401Pro NC_000002.12:147935618:A:G p.(Leu401Pro) NC_000002.12:147935618:A:G p.(Leu401Pro) NC_000002.12:147935618:A:G Identity +NM_001172644.2:c.56C>T NP_001166115.1:p.Pro19Leu NC_000016.10:66550005:G:A p.(Pro19Leu) NC_000016.10:66550005:G:A p.(Pro19Leu) NC_000016.10:66550005:G:A Identity +NM_001080449.3:c.1897G>T NP_001073918.2:p.Ala633Ser NC_000010.11:68431947:C:A p.(Ala633Ser) NC_000010.11:68431947:C:A p.(Ala633Ser) NC_000010.11:68431947:C:A Identity +NM_001039876.3:c.442C>T NP_001034965.1:p.Arg148Ter NC_000019.10:36006925:G:A p.(Arg148Ter) NC_000019.10:36006925:G:A p.(Arg148Ter) NC_000019.10:36006925:G:A Identity +NM_001293306.2:c.3277C>A NP_001280235.2:p.Pro1093Thr NC_000003.12:38723501:G:T p.(Pro1093Thr) NC_000003.12:38723501:G:T p.(Pro1093Thr) NC_000003.12:38723501:G:T Identity +NM_000286.3:c.106G>C NP_000277.1:p.Ala36Pro NC_000017.11:35577915:C:G p.(Ala36Pro) NC_000017.11:35577915:C:G p.(Ala36Pro) NC_000017.11:35577915:C:G Identity +NM_001193340.2:c.403G>A NP_001180269.1:p.Ala135Thr NC_000020.11:46600034:C:T p.(Ala135Thr) NC_000020.11:46600034:C:T p.(Ala135Thr) NC_000020.11:46600034:C:T Identity +NM_014510.3:c.9668T>G NP_055325.2:p.Leu3223Arg NC_000007.14:82950919:A:C p.(Leu3223Arg) NC_000007.14:82950919:A:C p.(Leu3223Arg) NC_000007.14:82950919:A:C Identity +NM_006088.6:c.665dup NP_006079.1:p.Tyr222Ter NC_000009.12:137242882:A:AA p.(Tyr222Ter) NC_000009.12:137242882:A:AA p.(Tyr222Ter) ERR:SPDI Identity +NM_000314.8:c.562T>G NP_000305.3:p.Tyr188Asp NC_000010.11:87952186:T:G p.(Tyr188Asp) NC_000010.11:87952186:T:G p.(Tyr188Asp) NC_000010.11:87952186:T:G Identity +NM_001321309.2:c.3327G>T NP_001308238.1:p.Lys1109Asn NC_000003.12:123664234:C:A p.(Lys1109Asn) NC_000003.12:123664234:C:A p.(Lys1109Asn) NC_000003.12:123664234:C:A Identity +NM_001354705.2:c.1435G>A NP_001341634.1:p.Gly479Arg NC_000012.12:57572711:G:A p.(Gly479Arg) NC_000012.12:57572711:G:A p.(Gly479Arg) NC_000012.12:57572711:G:A Identity +NM_001372.4:c.3051T>A NP_001363.2:p.Tyr1017Ter NC_000017.11:11669491:T:A p.(Tyr1017Ter) NC_000017.11:11669491:T:A p.(Tyr1017Ter) NC_000017.11:11669491:T:A Identity +NM_001318193.2:c.612G>C NP_001305122.2:p.Trp204Cys NC_000016.10:2040140:C:G p.(Trp204Cys) NC_000016.10:2040140:C:G p.(Trp204Cys) NC_000016.10:2040140:C:G Identity +NM_152383.5:c.2209G>T NP_689596.4:p.Asp737Tyr NC_000002.12:232334418:G:T p.(Asp737Tyr) NC_000002.12:232334418:G:T p.(Asp737Tyr) NC_000002.12:232334418:G:T Identity +NM_001128148.3:c.821T>C NP_001121620.1:p.Leu274Ser NC_000003.12:196068110:A:G p.(Leu274Ser) NC_000003.12:196068110:A:G p.(Leu274Ser) NC_000003.12:196068110:A:G Identity +NM_025179.4:c.1609T>C NP_079455.3:p.Cys537Arg NC_000001.11:208098967:A:G p.(Cys537Arg) NC_000001.11:208098967:A:G p.(Cys537Arg) NC_000001.11:208098967:A:G Identity +NM_001145848.2:c.2035A>G NP_001139320.1:p.Ile679Val NC_000004.12:15989745:T:C p.(Ile679Val) NC_000004.12:15989745:T:C p.(Ile679Val) NC_000004.12:15989745:T:C Identity +NM_001278268.2:c.958G>A NP_001265197.1:p.Glu320Lys NC_000018.10:62368916:G:A p.(Glu320Lys) NC_000018.10:62368916:G:A p.(Glu320Lys) NC_000018.10:62368916:G:A Identity +NM_001100112.2:c.1078A>T NP_001093582.1:p.Met360Leu NC_000017.11:10539996:T:A p.(Met360Leu) NC_000017.11:10539996:T:A p.(Met360Leu) NC_000017.11:10539996:T:A Identity +NM_001256789.3:c.1990A>G NP_001243718.1:p.Met664Val NC_000023.11:49223023:T:C p.(Met664Val) NC_000023.11:49223023:T:C p.(Met664Val) NC_000023.11:49223023:T:C Identity +NM_001024218.2:c.1495C>T NP_001019389.1:p.Pro499Ser NC_000014.9:67113138:C:T p.(Pro499Ser) NC_000014.9:67113138:C:T p.(Pro499Ser) NC_000014.9:67113138:C:T Identity +NM_001318219.1:c.2984A>G NP_001305148.1:p.Glu995Gly NC_000020.11:35503248:A:G p.(Glu995Gly) NC_000020.11:35503248:A:G p.(Glu995Gly) NC_000020.11:35503248:A:G Identity +NM_001386339.1:c.4234T>A NP_001373268.1:p.Ser1412Thr NC_000011.10:9812548:A:T p.(Ser1412Thr) NC_000011.10:9812548:A:T p.(Ser1412Thr) NC_000011.10:9812548:A:T Identity +NM_000169.3:c.459C>A NP_000160.1:p.Asp153Glu NC_000023.11:101401719:G:T p.(Asp153Glu) NC_000023.11:101401719:G:T p.(Asp153Glu) NC_000023.11:101401719:G:T Identity +NM_004104.5:c.3050C>T NP_004095.4:p.Ser1017Leu NC_000017.11:82087497:G:A p.(Ser1017Leu) NC_000017.11:82087497:G:A p.(Ser1017Leu) NC_000017.11:82087497:G:A Identity +NM_001271620.2:c.68C>T NP_001258549.1:p.Thr23Met NC_000016.10:49730799:G:A p.(Thr23Met) NC_000016.10:49730799:G:A p.(Thr23Met) NC_000016.10:49730799:G:A Identity +NM_001128148.3:c.1619C>T NP_001121620.1:p.Ala540Val NC_000003.12:196058341:G:A p.(Ala540Val) NC_000003.12:196058341:G:A p.(Ala540Val) NC_000003.12:196058341:G:A Identity +NM_001178129.2:c.991T>C NP_001171600.1:p.Tyr331His NC_000007.14:83400222:A:G p.(Tyr331His) NC_000007.14:83400222:A:G p.(Tyr331His) NC_000007.14:83400222:A:G Identity +NM_000091.5:c.2767G>A NP_000082.2:p.Val923Ile NC_000002.12:227284230:G:A p.(Val923Ile) NC_000002.12:227284230:G:A p.(Val923Ile) NC_000002.12:227284230:G:A Identity +NM_000066.4:c.511G>C NP_000057.3:p.Gly171Arg NC_000001.11:56954707:C:G p.(Gly171Arg) NC_000001.11:56954707:C:G p.(Gly171Arg) NC_000001.11:56954707:C:G Identity +NM_001440.4:c.115A>T NP_001431.1:p.Ile39Phe NC_000008.11:28716173:A:T p.(Ile39Phe) NC_000008.11:28716173:A:T p.(Ile39Phe) NC_000008.11:28716173:A:T Identity +NM_001159699.2:c.767A>C NP_001153171.1:p.Tyr256Ser NC_000023.11:136209900:A:C p.(Tyr256Ser) NC_000023.11:136209900:A:C p.(Tyr256Ser) NC_000023.11:136209900:A:C Identity +NM_001135771.3:c.64G>A NP_001129243.1:p.Ala22Thr NC_000020.11:37184229:G:A p.(Ala22Thr) NC_000020.11:37184229:G:A p.(Ala22Thr) NC_000020.11:37184229:G:A Identity +NM_000268.4:c.827T>C NP_000259.1:p.Leu276Pro NC_000022.11:29665005:T:C p.(Leu276Pro) NC_000022.11:29665005:T:C p.(Leu276Pro) NC_000022.11:29665005:T:C Identity +NM_001252020.2:c.1079A>G NP_001238949.1:p.Asn360Ser NC_000015.10:31062639:T:C p.(Asn360Ser) NC_000015.10:31062639:T:C p.(Asn360Ser) NC_000015.10:31062639:T:C Identity +NM_001193640.2:c.816C>G NP_001180569.1:p.Ile272Met NC_000001.11:197356993:C:G p.(Ile272Met) NC_000001.11:197356993:C:G p.(Ile272Met) NC_000001.11:197356993:C:G Identity +NM_001206846.2:c.3980G>A NP_001193775.1:p.Arg1327Gln NC_000001.11:197117873:C:T p.(Arg1327Gln) NC_000001.11:197117873:C:T p.(Arg1327Gln) NC_000001.11:197117873:C:T Identity +NM_003322.6:c.260T>A NP_003313.3:p.Val87Asp NC_000006.12:35511736:A:T p.(Val87Asp) NC_000006.12:35511736:A:T p.(Val87Asp) NC_000006.12:35511736:A:T Identity +NM_000287.4:c.478C>T NP_000278.3:p.Leu160Phe NC_000006.12:42978672:G:A p.(Leu160Phe) NC_000006.12:42978672:G:A p.(Leu160Phe) NC_000006.12:42978672:G:A Identity +NM_000593.6:c.1108G>T NP_000584.3:p.Ala370Ser NC_000006.12:32850459:C:A p.(Ala370Ser) NC_000006.12:32850459:C:A p.(Ala370Ser) NC_000006.12:32850459:C:A Identity +NM_030930.4:c.190G>C NP_112192.2:p.Val64Leu NC_000011.10:68003704:C:G p.(Val64Leu) NC_000011.10:68003704:C:G p.(Val64Leu) NC_000011.10:68003704:C:G Identity +NM_020964.3:c.6632C>T NP_066015.2:p.Pro2211Leu NC_000018.10:45865748:G:A p.(Pro2211Leu) NC_000018.10:45865748:G:A p.(Pro2211Leu) NC_000018.10:45865748:G:A Identity +NM_001256850.1:c.12887_12888del NP_001243779.1:p.Val4296fs NC_000002.12:178739393:CAC:C p.(Val4296GlyfsTer5) NC_000002.12:178739393:CAC:C p.(Val4296GlyfsTer5) NC_000002.12:178739393:CA: Analogous +NM_020919.4:c.979A>G NP_065970.2:p.Thr327Ala NC_000002.12:201761014:T:C p.(Thr327Ala) NC_000002.12:201761014:T:C p.(Thr327Ala) NC_000002.12:201761014:T:C Identity +NM_025099.6:c.995A>G NP_079375.3:p.Lys332Arg NC_000017.11:8236139:T:C p.(Lys332Arg) NC_000017.11:8236139:T:C p.(Lys332Arg) NC_000017.11:8236139:T:C Identity +NM_001193333.3:c.514C>G NP_001180262.1:p.Pro172Ala NC_000016.10:30187100:C:G p.(Pro172Ala) NC_000016.10:30187100:C:G p.(Pro172Ala) NC_000016.10:30187100:C:G Identity +NM_000719.7:c.5419G>A NP_000710.5:p.Val1807Met NC_000012.12:2679770:G:A p.(Val1807Met) NC_000012.12:2679770:G:A p.(Val1807Met) NC_000012.12:2679770:G:A Identity +NM_001354723.2:c.433dup NP_001341652.1:p.Thr145fs NC_000003.12:10142853:AA:AAA p.(Thr145AsnfsTer37) NC_000003.12:10142853:AA:AAA p.(Thr145AsnfsTer37) ERR:SPDI Analogous +NM_001142929.2:c.186G>C NP_001136401.2:p.Gln62His NC_000010.11:49619876:G:C p.(Gln62His) NC_000010.11:49619876:G:C p.(Gln62His) NC_000010.11:49619876:G:C Identity +NM_001845.6:c.1885C>G NP_001836.3:p.Pro629Ala NC_000013.11:110186396:G:C p.(Pro629Ala) NC_000013.11:110186396:G:C p.(Pro629Ala) NC_000013.11:110186396:G:C Identity +NM_000489.6:c.4081A>G NP_000480.3:p.Lys1361Glu NC_000023.11:77663420:T:C p.(Lys1361Glu) NC_000023.11:77663420:T:C p.(Lys1361Glu) NC_000023.11:77663420:T:C Identity +NM_001363729.2:c.17C>T NP_001350658.1:p.Ser6Phe NC_000020.11:36951626:G:A p.(Ser6Phe) NC_000020.11:36951626:G:A p.(Ser6Phe) NC_000020.11:36951626:G:A Identity +NM_000319.5:c.92G>A NP_000310.2:p.Arg31Gln NC_000012.12:7190468:G:A p.(Arg31Gln) NC_000012.12:7190468:G:A p.(Arg31Gln) NC_000012.12:7190468:G:A Identity +NM_000260.4:c.4808A>G NP_000251.3:p.Lys1603Arg NC_000011.10:77199773:A:G p.(Lys1603Arg) NC_000011.10:77199773:A:G p.(Lys1603Arg) NC_000011.10:77199773:A:G Identity +NM_001306154.2:c.10A>G NP_001293083.1:p.Met4Val NC_000005.10:10250349:A:G p.(Met4Val) NC_000005.10:10250349:A:G p.(Met4Val) NC_000005.10:10250349:A:G Identity +NM_001130438.3:c.7084T>C NP_001123910.1:p.Tyr2362His NC_000009.12:128632641:T:C p.(Tyr2362His) NC_000009.12:128632641:T:C p.(Tyr2362His) NC_000009.12:128632641:T:C Identity +NM_201383.3:c.9203C>T NP_958785.1:p.Thr3068Ile NC_000008.11:143920629:G:A p.(Thr3068Ile) NC_000008.11:143920629:G:A p.(Thr3068Ile) NC_000008.11:143920629:G:A Identity +NM_001130066.2:c.1136C>G NP_001123538.1:p.Ser379Trp NC_000006.12:33438040:C:G p.(Ser379Trp) NC_000006.12:33438040:C:G p.(Ser379Trp) NC_000006.12:33438040:C:G Identity +NM_004369.4:c.6730G>A NP_004360.2:p.Glu2244Lys NC_000002.12:237352544:C:T p.(Glu2244Lys) NC_000002.12:237352544:C:T p.(Glu2244Lys) NC_000002.12:237352544:C:T Identity +NM_001258206.2:c.2134G>A NP_001245135.1:p.Ala712Thr NC_000019.10:6850739:G:A p.(Ala712Thr) NC_000019.10:6850739:G:A p.(Ala712Thr) NC_000019.10:6850739:G:A Identity +NM_001193307.2:c.1000G>A NP_001180236.1:p.Glu334Lys NC_000007.14:93105097:C:T p.(Glu334Lys) NC_000007.14:93105097:C:T p.(Glu334Lys) NC_000007.14:93105097:C:T Identity +NM_003482.4:c.8722C>T NP_003473.3:p.Pro2908Ser NC_000012.12:49038633:G:A p.(Pro2908Ser) NC_000012.12:49038633:G:A p.(Pro2908Ser) NC_000012.12:49038633:G:A Identity +NM_033159.4:c.663_670dup NP_149349.2:p.Gly224fs NC_000003.12:50302286:CTGATGGGC:CTGATGGGCTGATGGGC p.(Gly224AlafsTer12) NC_000003.12:50302286:CTGATGGGC:CTGATGGGCTGATGGGC p.(Gly224AlafsTer12) ERR:SPDI Analogous +NM_004260.4:c.647A>G NP_004251.4:p.Glu216Gly NC_000008.11:144516471:T:C p.(Glu216Gly) NC_000008.11:144516471:T:C p.(Glu216Gly) NC_000008.11:144516471:T:C Identity +NM_001319945.2:c.184C>T NP_001306874.1:p.Leu62Phe NC_000017.11:44071148:C:T p.(Leu62Phe) NC_000017.11:44071148:C:T p.(Leu62Phe) NC_000017.11:44071148:C:T Identity +NM_052845.4:c.467G>A NP_443077.1:p.Trp156Ter NC_000012.12:109561471:C:T p.(Trp156Ter) NC_000012.12:109561471:C:T p.(Trp156Ter) NC_000012.12:109561471:C:T Identity +NM_001005505.3:c.2873C>T NP_001005505.1:p.Ala958Val NC_000003.12:50365851:G:A p.(Ala958Val) NC_000003.12:50365851:G:A p.(Ala958Val) NC_000003.12:50365851:G:A Identity +NM_000360.4:c.1118C>T NP_000351.2:p.Thr373Met NC_000011.10:2165749:G:A p.(Thr373Met) NC_000011.10:2165749:G:A p.(Thr373Met) NC_000011.10:2165749:G:A Identity +NM_001283009.2:c.2797G>T NP_001269938.1:p.Ala933Ser NC_000020.11:63692948:G:T p.(Ala933Ser) NC_000020.11:63692948:G:T p.(Ala933Ser) NC_000020.11:63692948:G:T Identity +NM_001289395.2:c.1072A>G NP_001276324.1:p.Asn358Asp NC_000006.12:35503650:T:C p.(Asn358Asp) NC_000006.12:35503650:T:C p.(Asn358Asp) NC_000006.12:35503650:T:C Identity +NM_001621.5:c.1972C>A NP_001612.1:p.Gln658Lys NC_000007.14:17339796:C:A p.(Gln658Lys) NC_000007.14:17339796:C:A p.(Gln658Lys) NC_000007.14:17339796:C:A Identity +NM_001077269.1:c.1289C>A NP_001070737.1:p.Pro430Gln NC_000002.12:174567913:G:T p.(Pro430Gln) NC_000002.12:174567913:G:T p.(Pro430Gln) NC_000002.12:174567913:G:T Identity +NM_001288781.1:c.235C>T NP_001275710.1:p.Arg79Cys NC_000014.9:88839571:C:T p.(Arg79Cys) NC_000014.9:88839571:C:T p.(Arg79Cys) NC_000014.9:88839571:C:T Identity +NM_001291860.2:c.4820C>T NP_001278789.1:p.Thr1607Met NC_000001.11:21862038:G:A p.(Thr1607Met) NC_000001.11:21862038:G:A p.(Thr1607Met) NC_000001.11:21862038:G:A Identity +NM_000065.5:c.2003T>A NP_000056.2:p.Val668Asp NC_000005.10:41155069:A:T p.(Val668Asp) NC_000005.10:41155069:A:T p.(Val668Asp) NC_000005.10:41155069:A:T Identity +NM_000478.6:c.1271T>C NP_000469.3:p.Val424Ala NC_000001.11:21576602:T:C p.(Val424Ala) NC_000001.11:21576602:T:C p.(Val424Ala) NC_000001.11:21576602:T:C Identity +NM_000302.4:c.1567G>T NP_000293.2:p.Val523Leu NC_000001.11:11965575:G:T p.(Val523Leu) NC_000001.11:11965575:G:T p.(Val523Leu) NC_000001.11:11965575:G:T Identity +NM_001017995.3:c.1994A>G NP_001017995.1:p.Asn665Ser NC_000005.10:172339110:T:C p.(Asn665Ser) NC_000005.10:172339110:T:C p.(Asn665Ser) NC_000005.10:172339110:T:C Identity +NM_001282424.3:c.157G>A NP_001269353.2:p.Gly53Ser NC_000012.12:8846168:G:A p.(Gly53Ser) NC_000012.12:8846168:G:A p.(Gly53Ser) NC_000012.12:8846168:G:A Identity +NM_001384732.1:c.5114T>C NP_001371661.1:p.Ile1705Thr NC_000005.10:37183066:A:G p.(Ile1705Thr) NC_000005.10:37183066:A:G p.(Ile1705Thr) NC_000005.10:37183066:A:G Identity +NM_000632.4:c.2069T>C NP_000623.2:p.Val690Ala NC_000016.10:31324464:T:C p.(Val690Ala) NC_000016.10:31324464:T:C p.(Val690Ala) NC_000016.10:31324464:T:C Identity +NM_001308301.1:c.751G>A NP_001295230.1:p.Val251Met NC_000016.10:46727375:C:T p.(Val251Met) NC_000016.10:46727375:C:T p.(Val251Met) NC_000016.10:46727375:C:T Identity +NM_018190.4:c.1450C>T NP_060660.2:p.Arg484Cys NC_000004.12:121835204:G:A p.(Arg484Cys) NC_000004.12:121835204:G:A p.(Arg484Cys) NC_000004.12:121835204:G:A Identity +NM_000426.4:c.4838A>C NP_000417.3:p.Glu1613Ala NC_000006.12:129366338:A:C p.(Glu1613Ala) NC_000006.12:129366338:A:C p.(Glu1613Ala) NC_000006.12:129366338:A:C Identity +NM_000028.3:c.2576C>T NP_000019.2:p.Ala859Val NC_000001.11:99884597:C:T p.(Ala859Val) NC_000001.11:99884597:C:T p.(Ala859Val) NC_000001.11:99884597:C:T Identity +NM_005732.4:c.3625G>C NP_005723.2:p.Ala1209Pro NC_000005.10:132640677:G:C p.(Ala1209Pro) NC_000005.10:132640677:G:C p.(Ala1209Pro) NC_000005.10:132640677:G:C Identity +NM_020661.4:c.457G>C NP_065712.1:p.Glu153Gln NC_000012.12:8604892:C:G p.(Glu153Gln) NC_000012.12:8604892:C:G p.(Glu153Gln) NC_000012.12:8604892:C:G Identity +NM_000512.5:c.394G>A NP_000503.1:p.Gly132Ser NC_000016.10:88841019:C:T p.(Gly132Ser) NC_000016.10:88841019:C:T p.(Gly132Ser) NC_000016.10:88841019:C:T Identity +NM_001139490.1:c.970T>C NP_001132962.1:p.Ser324Pro NC_000002.12:238332877:T:C p.(Ser324Pro) NC_000002.12:238332877:T:C p.(Ser324Pro) NC_000002.12:238332877:T:C Identity +NM_001388492.1:c.5467C>T NP_001375421.1:p.Arg1823Cys NC_000004.12:3199829:C:T p.(Arg1823Cys) NC_000004.12:3199829:C:T p.(Arg1823Cys) NC_000004.12:3199829:C:T Identity +NM_004360.5:c.1165G>A NP_004351.1:p.Ala389Thr NC_000016.10:68813339:G:A p.(Ala389Thr) NC_000016.10:68813339:G:A p.(Ala389Thr) NC_000016.10:68813339:G:A Identity +NM_001303496.3:c.260C>T NP_001290425.1:p.Pro87Leu NC_000007.14:93135711:G:A p.(Pro87Leu) NC_000007.14:93135711:G:A p.(Pro87Leu) NC_000007.14:93135711:G:A Identity +NM_001289164.3:c.802G>A NP_001276093.1:p.Ala268Thr NC_000002.12:74536006:C:T p.(Ala268Thr) NC_000002.12:74536006:C:T p.(Ala268Thr) NC_000002.12:74536006:C:T Identity +NM_001282164.2:c.603C>T NP_001269093.1:p.Pro201= NC_000012.12:132620518:C:T p.(Pro201=) NC_000012.12:132620518:C:T p.(Pro201=) NC_000012.12:132620518:C:T Identity +NM_001018115.3:c.571G>A NP_001018125.1:p.Asp191Asn NC_000003.12:10039720:G:A p.(Asp191Asn) NC_000003.12:10039720:G:A p.(Asp191Asn) NC_000003.12:10039720:G:A Identity +NM_000028.3:c.3242G>C NP_000019.2:p.Cys1081Ser NC_000001.11:99892589:G:C p.(Cys1081Ser) NC_000001.11:99892589:G:C p.(Cys1081Ser) NC_000001.11:99892589:G:C Identity +NM_001018115.3:c.853A>G NP_001018125.1:p.Ile285Val NC_000003.12:10042627:A:G p.(Ile285Val) NC_000003.12:10042627:A:G p.(Ile285Val) NC_000003.12:10042627:A:G Identity +NM_000038.6:c.3935G>T NP_000029.2:p.Gly1312Val NC_000005.10:112839528:G:T p.(Gly1312Val) NC_000005.10:112839528:G:T p.(Gly1312Val) NC_000005.10:112839528:G:T Identity +NM_001044.5:c.1081G>A NP_001035.1:p.Gly361Ser NC_000005.10:1414765:C:T p.(Gly361Ser) NC_000005.10:1414765:C:T p.(Gly361Ser) NC_000005.10:1414765:C:T Identity +NM_198578.4:c.4617A>T NP_940980.4:p.Lys1539Asn NC_000012.12:40314051:A:T p.(Lys1539Asn) NC_000012.12:40314051:A:T p.(Lys1539Asn) NC_000012.12:40314051:A:T Identity +NM_014225.6:c.284C>T NP_055040.2:p.Ser95Leu NC_000019.10:52211272:C:T p.(Ser95Leu) NC_000019.10:52211272:C:T p.(Ser95Leu) NC_000019.10:52211272:C:T Identity +NM_003079.5:c.1010A>G NP_003070.3:p.Asn337Ser NC_000017.11:40630730:T:C p.(Asn337Ser) NC_000017.11:40630730:T:C p.(Asn337Ser) NC_000017.11:40630730:T:C Identity +NM_000109.4:c.3671C>T NP_000100.3:p.Ala1224Val NC_000023.11:32448546:G:A p.(Ala1224Val) NC_000023.11:32448546:G:A p.(Ala1224Val) NC_000023.11:32448546:G:A Identity +NM_001206855.3:c.232del NP_001193784.1:p.His78fs NC_000007.14:100633104:GGG:GG p.(His78ThrfsTer29) NC_000007.14:100633104:GGG:GG p.(His78ThrfsTer29) NC_000007.14:100633104:G: Analogous +NM_001256789.3:c.5608C>G NP_001243718.1:p.Pro1870Ala NC_000023.11:49205677:G:C p.(Pro1870Ala) NC_000023.11:49205677:G:C p.(Pro1870Ala) NC_000023.11:49205677:G:C Identity +NM_006361.6:c.49G>A NP_006352.2:p.Gly17Ser NC_000017.11:48728544:C:T p.(Gly17Ser) NC_000017.11:48728544:C:T p.(Gly17Ser) NC_000017.11:48728544:C:T Identity +NM_001007188.4:c.178del NP_001007189.1:p.Glu60fs NC_000022.11:31760685:GG:G p.(Glu60LysfsTer14) NC_000022.11:31760685:GG:G p.(Glu60LysfsTer14) NC_000022.11:31760686:G: Analogous +NM_001195139.2:c.139G>C NP_001182068.2:p.Glu47Gln NC_000016.10:70523392:C:G p.(Glu47Gln) NC_000016.10:70523392:C:G p.(Glu47Gln) NC_000016.10:70523392:C:G Identity +NM_001290265.2:c.551T>A NP_001277194.1:p.Phe184Tyr NC_000019.10:18879295:A:T p.(Phe184Tyr) NC_000019.10:18879295:A:T p.(Phe184Tyr) NC_000019.10:18879295:A:T Identity +NM_002473.6:c.1178G>A NP_002464.1:p.Arg393His NC_000022.11:36318255:C:T p.(Arg393His) NC_000022.11:36318255:C:T p.(Arg393His) NC_000022.11:36318255:C:T Identity +NM_020964.3:c.3307G>T NP_066015.2:p.Val1103Phe NC_000018.10:45916514:C:A p.(Val1103Phe) NC_000018.10:45916514:C:A p.(Val1103Phe) NC_000018.10:45916514:C:A Identity +NM_001194998.2:c.4318C>G NP_001181927.1:p.His1440Asp NC_000015.10:48739063:G:C p.(His1440Asp) NC_000015.10:48739063:G:C p.(His1440Asp) NC_000015.10:48739063:G:C Identity +NM_000275.3:c.2378G>A NP_000266.2:p.Cys793Tyr NC_000015.10:27845012:C:T p.(Cys793Tyr) NC_000015.10:27845012:C:T p.(Cys793Tyr) NC_000015.10:27845012:C:T Identity +NM_001378454.1:c.4733T>C NP_001365383.1:p.Ile1578Thr NC_000002.12:73451259:T:C p.(Ile1578Thr) NC_000002.12:73451259:T:C p.(Ile1578Thr) NC_000002.12:73451259:T:C Identity +NM_001282424.3:c.2601C>G NP_001269353.2:p.Ser867Arg NC_000012.12:8868548:C:G p.(Ser867Arg) NC_000012.12:8868548:C:G p.(Ser867Arg) NC_000012.12:8868548:C:G Identity +NM_002381.5:c.59T>C NP_002372.1:p.Leu20Pro NC_000002.12:20012572:A:G p.(Leu20Pro) NC_000002.12:20012572:A:G p.(Leu20Pro) NC_000002.12:20012572:A:G Identity +NM_004525.3:c.8020G>A NP_004516.2:p.Glu2674Lys NC_000002.12:169202944:C:T p.(Glu2674Lys) NC_000002.12:169202944:C:T p.(Glu2674Lys) NC_000002.12:169202944:C:T Identity +NM_052872.4:c.350C>A NP_443104.1:p.Ser117Tyr NC_000006.12:52237072:G:T p.(Ser117Tyr) NC_000006.12:52237072:G:T p.(Ser117Tyr) NC_000006.12:52237072:G:T Identity +NM_000548.5:c.4272C>G NP_000539.2:p.Asp1424Glu NC_000016.10:2084493:C:G p.(Asp1424Glu) NC_000016.10:2084493:C:G p.(Asp1424Glu) NC_000016.10:2084493:C:G Identity +NM_001366385.1:c.2927G>A NP_001353314.1:p.Ser976Asn NC_000017.11:80208256:G:A p.(Ser976Asn) NC_000017.11:80208256:G:A p.(Ser976Asn) NC_000017.11:80208256:G:A Identity +NM_001127396.3:c.790G>A NP_001120868.1:p.Glu264Lys NC_000019.10:7642432:G:A p.(Glu264Lys) NC_000019.10:7642432:G:A p.(Glu264Lys) NC_000019.10:7642432:G:A Identity +NM_001376.5:c.1260T>G NP_001367.2:p.Phe420Leu NC_000014.9:101983407:T:G p.(Phe420Leu) NC_000014.9:101983407:T:G p.(Phe420Leu) NC_000014.9:101983407:T:G Identity +NM_001306079.2:c.1100G>T NP_001293008.1:p.Gly367Val NC_000002.12:27224020:G:T p.(Gly367Val) NC_000002.12:27224020:G:T p.(Gly367Val) NC_000002.12:27224020:G:T Identity +NM_001144996.2:c.1033G>T NP_001138468.1:p.Ala345Ser NC_000012.12:55698553:C:A p.(Ala345Ser) NC_000012.12:55698553:C:A p.(Ala345Ser) NC_000012.12:55698553:C:A Identity +NM_001466.4:c.1658C>T NP_001457.1:p.Thr553Ile NC_000017.11:44559345:C:T p.(Thr553Ile) NC_000017.11:44559345:C:T p.(Thr553Ile) NC_000017.11:44559345:C:T Identity +NM_001113378.2:c.834del NP_001106849.1:p.Ile279fs NC_000015.10:89268475:CC:C p.(Ile279SerfsTer7) NC_000015.10:89268475:CC:C p.(Ile279SerfsTer7) NC_000015.10:89268476:C: Analogous +NM_000235.4:c.951T>A NP_000226.2:p.Tyr317Ter NC_000010.11:89215952:A:T p.(Tyr317Ter) NC_000010.11:89215952:A:T p.(Tyr317Ter) NC_000010.11:89215952:A:T Identity +NM_001039141.3:c.5318G>A NP_001034230.1:p.Arg1773Gln NC_000022.11:37741027:G:A p.(Arg1773Gln) NC_000022.11:37741027:G:A p.(Arg1773Gln) NC_000022.11:37741027:G:A Identity +NM_001083908.2:c.1234G>T NP_001077377.1:p.Val412Phe NC_000014.9:49633915:C:A p.(Val412Phe) NC_000014.9:49633915:C:A p.(Val412Phe) NC_000014.9:49633915:C:A Identity +NM_001271466.4:c.296A>G NP_001258395.2:p.Tyr99Cys NC_000002.12:231214948:A:G p.(Tyr99Cys) NC_000002.12:231214948:A:G p.(Tyr99Cys) NC_000002.12:231214948:A:G Identity +NM_001378761.1:c.3173T>C NP_001365690.1:p.Leu1058Pro NC_000011.10:121128192:T:C p.(Leu1058Pro) NC_000011.10:121128192:T:C p.(Leu1058Pro) NC_000011.10:121128192:T:C Identity +NM_001386339.1:c.3919C>T NP_001373268.1:p.Arg1307Cys NC_000011.10:9816994:G:A p.(Arg1307Cys) NC_000011.10:9816994:G:A p.(Arg1307Cys) NC_000011.10:9816994:G:A Identity +NM_000038.6:c.8366G>A NP_000029.2:p.Ser2789Asn NC_000005.10:112843959:G:A p.(Ser2789Asn) NC_000005.10:112843959:G:A p.(Ser2789Asn) NC_000005.10:112843959:G:A Identity +NM_001256850.1:c.19156C>T NP_001243779.1:p.Arg6386Ter NC_000002.12:178727257:G:A p.(Arg6386Ter) NC_000002.12:178727257:G:A p.(Arg6386Ter) NC_000002.12:178727257:G:A Identity +NM_001267722.2:c.1138C>T NP_001254651.1:p.Pro380Ser NC_000004.12:56490332:C:T p.(Pro380Ser) NC_000004.12:56490332:C:T p.(Pro380Ser) NC_000004.12:56490332:C:T Identity +NM_001271466.4:c.878C>T NP_001258395.2:p.Thr293Met NC_000002.12:231240039:C:T p.(Thr293Met) NC_000002.12:231240039:C:T p.(Thr293Met) NC_000002.12:231240039:C:T Identity +NM_001364858.1:c.1871A>C NP_001351787.1:p.His624Pro NC_000007.14:4791299:A:C p.(His624Pro) NC_000007.14:4791299:A:C p.(His624Pro) NC_000007.14:4791299:A:C Identity +NM_001130823.3:c.3163A>G NP_001124295.1:p.Ile1055Val NC_000019.10:10142173:T:C p.(Ile1055Val) NC_000019.10:10142173:T:C p.(Ile1055Val) NC_000019.10:10142173:T:C Identity +NM_001310332.2:c.545G>T NP_001297261.1:p.Gly182Val NC_000014.9:24150248:G:T p.(Gly182Val) NC_000014.9:24150248:G:T p.(Gly182Val) NC_000014.9:24150248:G:T Identity +NM_001244008.2:c.3101G>A NP_001230937.1:p.Arg1034His NC_000002.12:240746139:C:T p.(Arg1034His) NC_000002.12:240746139:C:T p.(Arg1034His) NC_000002.12:240746139:C:T Identity +NM_020987.5:c.9124G>A NP_066267.2:p.Glu3042Lys NC_000010.11:60071756:C:T p.(Glu3042Lys) NC_000010.11:60071756:C:T p.(Glu3042Lys) NC_000010.11:60071756:C:T Identity +NM_000246.4:c.2053G>C NP_000237.2:p.Val685Leu NC_000016.10:10907544:G:C p.(Val685Leu) NC_000016.10:10907544:G:C p.(Val685Leu) NC_000016.10:10907544:G:C Identity +NM_001135999.2:c.3917C>G NP_001129471.2:p.Ala1306Gly NC_000009.12:35560556:C:G p.(Ala1306Gly) NC_000009.12:35560556:C:G p.(Ala1306Gly) NC_000009.12:35560556:C:G Identity +NM_001206927.2:c.13888C>T NP_001193856.1:p.Arg4630Trp NC_000006.12:39030155:C:T p.(Arg4630Trp) NC_000006.12:39030155:C:T p.(Arg4630Trp) NC_000006.12:39030155:C:T Identity +NM_000065.5:c.2197C>T NP_000056.2:p.Pro733Ser NC_000005.10:41153902:G:A p.(Pro733Ser) NC_000005.10:41153902:G:A p.(Pro733Ser) NC_000005.10:41153902:G:A Identity +NM_001190274.2:c.660G>T NP_001177203.1:p.Gln220His NC_000002.12:47835928:C:A p.(Gln220His) NC_000002.12:47835928:C:A p.(Gln220His) NC_000002.12:47835928:C:A Identity +NM_000135.4:c.1123T>A NP_000126.2:p.Leu375Met NC_000016.10:89792028:A:T p.(Leu375Met) NC_000016.10:89792028:A:T p.(Leu375Met) NC_000016.10:89792028:A:T Identity +NM_001032282.4:c.304G>C NP_001027453.1:p.Ala102Pro NC_000008.11:102651994:C:G p.(Ala102Pro) NC_000008.11:102651994:C:G p.(Ala102Pro) NC_000008.11:102651994:C:G Identity +NM_001258446.1:c.617G>A NP_001245375.1:p.Arg206Gln NC_000008.11:143324047:C:T p.(Arg206Gln) NC_000008.11:143324047:C:T p.(Arg206Gln) NC_000008.11:143324047:C:T Identity +NM_000166.6:c.842C>T NP_000157.1:p.Ser281Leu NC_000023.11:71224548:C:T p.(Ser281Leu) NC_000023.11:71224548:C:T p.(Ser281Leu) NC_000023.11:71224548:C:T Identity +NM_000081.4:c.2521G>C NP_000072.2:p.Gly841Arg NC_000001.11:235806614:C:G p.(Gly841Arg) NC_000001.11:235806614:C:G p.(Gly841Arg) NC_000001.11:235806614:C:G Identity +NM_145020.5:c.121C>G NP_659457.2:p.Arg41Gly NC_000018.10:50262167:G:C p.(Arg41Gly) NC_000018.10:50262167:G:C p.(Arg41Gly) NC_000018.10:50262167:G:C Identity +NM_000109.4:c.4275_4282dup NP_000100.3:p.Ala1428fs NC_000023.11:32390108:CCTCCTTCCC:CCTCCTTCCCTCCTTCCC p.(Ala1428GlyfsTer24) NC_000023.11:32390108:CCTCCTTCCC:CCTCCTTCCCTCCTTCCC p.(Ala1428GlyfsTer24) ERR:SPDI Analogous +NM_001004334.4:c.6284A>G NP_001004334.3:p.Asp2095Gly NC_000017.11:38327284:T:C p.(Asp2095Gly) NC_000017.11:38327284:T:C p.(Asp2095Gly) NC_000017.11:38327284:T:C Identity +NM_001257281.2:c.1156A>G NP_001244210.1:p.Thr386Ala NC_000002.12:232210356:A:G p.(Thr386Ala) NC_000002.12:232210356:A:G p.(Thr386Ala) NC_000002.12:232210356:A:G Identity +NM_000052.7:c.260C>T NP_000043.4:p.Thr87Ile NC_000023.11:77988380:C:T p.(Thr87Ile) NC_000023.11:77988380:C:T p.(Thr87Ile) NC_000023.11:77988380:C:T Identity +NM_001197104.2:c.9836C>T NP_001184033.1:p.Thr3279Ile NC_000011.10:118505727:C:T p.(Thr3279Ile) NC_000011.10:118505727:C:T p.(Thr3279Ile) NC_000011.10:118505727:C:T Identity +NM_001347701.2:c.50T>C NP_001334630.1:p.Ile17Thr NC_000006.12:152180151:A:G p.(Ile17Thr) NC_000006.12:152180151:A:G p.(Ile17Thr) NC_000006.12:152180151:A:G Identity +NM_006218.4:c.189A>C NP_006209.2:p.Gln63His NC_000003.12:179199013:A:C p.(Gln63His) NC_000003.12:179199013:A:C p.(Gln63His) NC_000003.12:179199013:A:C Identity +NM_001282225.2:c.101G>A NP_001269154.1:p.Arg34Gln NC_000022.11:17209576:C:T p.(Arg34Gln) NC_000022.11:17209576:C:T p.(Arg34Gln) NC_000022.11:17209576:C:T Identity +NM_001127487.2:c.8075C>T NP_001120959.1:p.Pro2692Leu NC_000007.14:128858518:C:T p.(Pro2692Leu) NC_000007.14:128858518:C:T p.(Pro2692Leu) NC_000007.14:128858518:C:T Identity +NM_000878.5:c.406A>C NP_000869.1:p.Ile136Leu NC_000022.11:37137717:T:G p.(Ile136Leu) NC_000022.11:37137717:T:G p.(Ile136Leu) NC_000022.11:37137717:T:G Identity +NM_001112808.3:c.2464G>C NP_001106279.3:p.Glu822Gln NC_000001.11:74489227:G:C p.(Glu822Gln) NC_000001.11:74489227:G:C p.(Glu822Gln) NC_000001.11:74489227:G:C Identity +NM_001243925.2:c.335G>A NP_001230854.1:p.Arg112His NC_000003.12:50640480:G:A p.(Arg112His) NC_000003.12:50640480:G:A p.(Arg112His) NC_000003.12:50640480:G:A Identity +NM_020884.7:c.3963G>T NP_065935.4:p.Glu1321Asp NC_000020.11:34998598:G:T p.(Glu1321Asp) NC_000020.11:34998598:G:T p.(Glu1321Asp) NC_000020.11:34998598:G:T Identity +NM_002894.3:c.1361G>T NP_002885.1:p.Ser454Ile NC_000018.10:22993187:G:T p.(Ser454Ile) NC_000018.10:22993187:G:T p.(Ser454Ile) NC_000018.10:22993187:G:T Identity +NM_001199922.2:c.937G>C NP_001186851.1:p.Gly313Arg NC_000011.10:124639791:C:G p.(Gly313Arg) NC_000011.10:124639791:C:G p.(Gly313Arg) NC_000011.10:124639791:C:G Identity +NM_015072.5:c.190C>A NP_055887.3:p.His64Asn NC_000014.9:75681552:C:A p.(His64Asn) NC_000014.9:75681552:C:A p.(His64Asn) NC_000014.9:75681552:C:A Identity +NM_020778.5:c.3032C>T NP_065829.4:p.Ser1011Leu NC_000015.10:84857769:C:T p.(Ser1011Leu) NC_000015.10:84857769:C:T p.(Ser1011Leu) NC_000015.10:84857769:C:T Identity +NM_001042663.3:c.1581G>T NP_001036128.2:p.Lys527Asn NC_000001.11:6470806:C:A p.(Lys527Asn) NC_000001.11:6470806:C:A p.(Lys527Asn) NC_000001.11:6470806:C:A Identity +NM_001211.6:c.1466_1470dup NP_001202.5:p.Gly491fs NC_000015.10:40200306:ATACCA:ATACCATACCA p.(Gly491TyrfsTer4) NC_000015.10:40200306:ATACCA:ATACCATACCA p.(Gly491TyrfsTer4) ERR:SPDI Analogous +NM_005876.5:c.529G>A NP_005867.3:p.Val177Met NC_000002.12:219444874:G:A p.(Val177Met) NC_000002.12:219444874:G:A p.(Val177Met) NC_000002.12:219444874:G:A Identity +NM_001079.4:c.1840G>C NP_001070.2:p.Ala614Pro NC_000002.12:97739477:G:C p.(Ala614Pro) NC_000002.12:97739477:G:C p.(Ala614Pro) NC_000002.12:97739477:G:C Identity +NM_001164507.2:c.4347G>A NP_001157979.2:p.Trp1449Ter NC_000002.12:151671181:C:T p.(Trp1449Ter) NC_000002.12:151671181:C:T p.(Trp1449Ter) NC_000002.12:151671181:C:T Identity +NM_001135999.2:c.1823T>A NP_001129471.2:p.Leu608Gln NC_000009.12:35548343:T:A p.(Leu608Gln) NC_000009.12:35548343:T:A p.(Leu608Gln) NC_000009.12:35548343:T:A Identity +NM_000465.4:c.1030A>G NP_000456.2:p.Ser344Gly NC_000002.12:214780843:T:C p.(Ser344Gly) NC_000002.12:214780843:T:C p.(Ser344Gly) NC_000002.12:214780843:T:C Identity +NM_032634.4:c.2261G>C NP_116023.2:p.Gly754Ala NC_000009.12:35091625:C:G p.(Gly754Ala) NC_000009.12:35091625:C:G p.(Gly754Ala) NC_000009.12:35091625:C:G Identity +NM_000214.3:c.2519A>G NP_000205.1:p.Asn840Ser NC_000020.11:10642540:T:C p.(Asn840Ser) NC_000020.11:10642540:T:C p.(Asn840Ser) NC_000020.11:10642540:T:C Identity +NM_000528.4:c.1337A>C NP_000519.2:p.His446Pro NC_000019.10:12657527:T:G p.(His446Pro) NC_000019.10:12657527:T:G p.(His446Pro) NC_000019.10:12657527:T:G Identity +NM_007055.4:c.2551A>G NP_008986.2:p.Thr851Ala NC_000010.11:78000045:T:C p.(Thr851Ala) NC_000010.11:78000045:T:C p.(Thr851Ala) NC_000010.11:78000045:T:C Identity +NM_004523.4:c.1772C>G NP_004514.2:p.Ser591Cys NC_000010.11:92633691:C:G p.(Ser591Cys) NC_000010.11:92633691:C:G p.(Ser591Cys) NC_000010.11:92633691:C:G Identity +NM_016042.4:c.709A>G NP_057126.2:p.Ile237Val NC_000009.12:37780797:T:C p.(Ile237Val) NC_000009.12:37780797:T:C p.(Ile237Val) NC_000009.12:37780797:T:C Identity +NM_000317.3:c.274A>C NP_000308.1:p.Asn92His NC_000011.10:112233192:A:C p.(Asn92His) NC_000011.10:112233192:A:C p.(Asn92His) NC_000011.10:112233192:A:C Identity +NM_153240.5:c.2263A>G NP_694972.3:p.Ile755Val NC_000003.12:132694873:T:C p.(Ile755Val) NC_000003.12:132694873:T:C p.(Ile755Val) NC_000003.12:132694873:T:C Identity +NM_001171933.1:c.416C>T NP_001165404.1:p.Ser139Phe NC_000010.11:71799191:C:T p.(Ser139Phe) NC_000010.11:71799191:C:T p.(Ser139Phe) NC_000010.11:71799191:C:T Identity +NM_001024218.2:c.1654G>C NP_001019389.1:p.Asp552His NC_000014.9:67143365:G:C p.(Asp552His) NC_000014.9:67143365:G:C p.(Asp552His) NC_000014.9:67143365:G:C Identity +NM_000465.4:c.185_186del NP_000456.2:p.Cys62fs NC_000002.12:214797089:ACACACA:ACACA p.(Cys62PhefsTer5) NC_000002.12:214797089:ACACACA:ACACA p.(Cys62PhefsTer5) NC_000002.12:214797089:AC: Analogous +NM_022095.4:c.3616A>G NP_071378.1:p.Ile1206Val NC_000020.11:45949852:T:C p.(Ile1206Val) NC_000020.11:45949852:T:C p.(Ile1206Val) NC_000020.11:45949852:T:C Identity +NM_001256560.2:c.358G>A NP_001243489.1:p.Val120Met NC_000003.12:58201094:C:T p.(Val120Met) NC_000003.12:58201094:C:T p.(Val120Met) NC_000003.12:58201094:C:T Identity +NM_001044.5:c.1783A>G NP_001035.1:p.Ile595Val NC_000005.10:1400970:T:C p.(Ile595Val) NC_000005.10:1400970:T:C p.(Ile595Val) NC_000005.10:1400970:T:C Identity +NM_000026.4:c.78G>A NP_000017.1:p.Met26Ile NC_000022.11:40346635:G:A p.(Met26Ile) NC_000022.11:40346635:G:A p.(Met26Ile) NC_000022.11:40346635:G:A Identity +NM_001282708.1:c.610G>A NP_001269637.1:p.Asp204Asn NC_000009.12:130703067:G:A p.(Asp204Asn) NC_000009.12:130703067:G:A p.(Asp204Asn) NC_000009.12:130703067:G:A Identity +NM_001349253.2:c.808G>A NP_001336182.1:p.Val270Ile NC_000003.12:38921159:C:T p.(Val270Ile) NC_000003.12:38921159:C:T p.(Val270Ile) NC_000003.12:38921159:C:T Identity +NM_001384732.1:c.1288T>C NP_001371661.1:p.Ser430Pro NC_000005.10:37227650:A:G p.(Ser430Pro) NC_000005.10:37227650:A:G p.(Ser430Pro) NC_000005.10:37227650:A:G Identity +NM_000095.3:c.1870G>A NP_000086.2:p.Ala624Thr NC_000019.10:18784939:C:T p.(Ala624Thr) NC_000019.10:18784939:C:T p.(Ala624Thr) NC_000019.10:18784939:C:T Identity +NM_004525.3:c.11219A>C NP_004516.2:p.Asp3740Ala NC_000002.12:169172058:T:G p.(Asp3740Ala) NC_000002.12:169172058:T:G p.(Asp3740Ala) NC_000002.12:169172058:T:G Identity +NM_001042383.2:c.790G>T NP_001035842.1:p.Ala264Ser NC_000003.12:134546148:G:T p.(Ala264Ser) NC_000003.12:134546148:G:T p.(Ala264Ser) NC_000003.12:134546148:G:T Identity +NM_004531.5:c.140T>C NP_004522.1:p.Ile47Thr NC_000005.10:53102182:A:G p.(Ile47Thr) NC_000005.10:53102182:A:G p.(Ile47Thr) NC_000005.10:53102182:A:G Identity +NM_001376.5:c.5906C>T NP_001367.2:p.Ser1969Leu NC_000014.9:102008265:C:T p.(Ser1969Leu) NC_000014.9:102008265:C:T p.(Ser1969Leu) NC_000014.9:102008265:C:T Identity +NM_012193.4:c.662T>C NP_036325.2:p.Ile221Thr NC_000011.10:86952093:A:G p.(Ile221Thr) NC_000011.10:86952093:A:G p.(Ile221Thr) NC_000011.10:86952093:A:G Identity +NM_000632.4:c.294C>A NP_000623.2:p.Ser98Arg NC_000016.10:31265865:C:A p.(Ser98Arg) NC_000016.10:31265865:C:A p.(Ser98Arg) NC_000016.10:31265865:C:A Identity +NM_001377156.1:c.1546C>T NP_001364085.1:p.Arg516Cys NC_000007.14:5715168:G:A p.(Arg516Cys) NC_000007.14:5715168:G:A p.(Arg516Cys) NC_000007.14:5715168:G:A Identity +NM_000520.6:c.16C>A NP_000511.2:p.Leu6Ile NC_000015.10:72375956:G:T p.(Leu6Ile) NC_000015.10:72375956:G:T p.(Leu6Ile) NC_000015.10:72375956:G:T Identity +NM_001195139.2:c.1190A>G NP_001182068.2:p.Gln397Arg NC_000016.10:70498048:T:C p.(Gln397Arg) NC_000016.10:70498048:T:C p.(Gln397Arg) NC_000016.10:70498048:T:C Identity +NM_017767.3:c.179dup NP_060237.3:p.Val62fs NC_000008.11:144416029:CCC:CCCC p.(Val62GlyfsTer26) NC_000008.11:144416029:CCC:CCCC p.(Val62GlyfsTer26) ERR:SPDI Analogous +NM_022114.4:c.445G>A NP_071397.3:p.Glu149Lys NC_000001.11:3385157:G:A p.(Glu149Lys) NC_000001.11:3385157:G:A p.(Glu149Lys) NC_000001.11:3385157:G:A Identity +NM_001128126.3:c.70G>A NP_001121598.1:p.Asp24Asn NC_000014.9:31066265:G:A p.(Asp24Asn) NC_000014.9:31066265:G:A p.(Asp24Asn) NC_000014.9:31066265:G:A Identity +NM_001288607.2:c.1670C>A NP_001275536.1:p.Ser557Tyr NC_000001.11:150556644:C:A p.(Ser557Tyr) NC_000001.11:150556644:C:A p.(Ser557Tyr) NC_000001.11:150556644:C:A Identity +NM_001001563.5:c.599C>G NP_001001563.2:p.Thr200Ser NC_000019.10:39486397:C:G p.(Thr200Ser) NC_000019.10:39486397:C:G p.(Thr200Ser) NC_000019.10:39486397:C:G Identity +NM_014510.3:c.7531G>A NP_055325.2:p.Ala2511Thr NC_000007.14:82953421:C:T p.(Ala2511Thr) NC_000007.14:82953421:C:T p.(Ala2511Thr) NC_000007.14:82953421:C:T Identity +NM_001023570.4:c.1040A>T NP_001018864.2:p.Asp347Val NC_000003.12:121790161:T:A p.(Asp347Val) NC_000003.12:121790161:T:A p.(Asp347Val) NC_000003.12:121790161:T:A Identity +NM_000321.3:c.1267G>A NP_000312.2:p.Gly423Arg NC_000013.11:48376968:G:A p.(Gly423Arg) NC_000013.11:48376968:G:A p.(Gly423Arg) NC_000013.11:48376968:G:A Identity +NM_001167595.2:c.994T>G NP_001161067.1:p.Leu332Val NC_000005.10:33989247:A:C p.(Leu332Val) NC_000005.10:33989247:A:C p.(Leu332Val) NC_000005.10:33989247:A:C Identity +NM_001379645.1:c.2072A>G NP_001366574.1:p.Glu691Gly NC_000002.12:240762735:T:C p.(Glu691Gly) NC_000002.12:240762735:T:C p.(Glu691Gly) NC_000002.12:240762735:T:C Identity +NM_004998.4:c.2510A>G NP_004989.2:p.His837Arg NC_000015.10:59163273:T:C p.(His837Arg) NC_000015.10:59163273:T:C p.(His837Arg) NC_000015.10:59163273:T:C Identity +NM_000257.4:c.4343A>G NP_000248.2:p.Asn1448Ser NC_000014.9:23417512:T:C p.(Asn1448Ser) NC_000014.9:23417512:T:C p.(Asn1448Ser) NC_000014.9:23417512:T:C Identity +NM_020754.4:c.2365A>G NP_065805.2:p.Thr789Ala NC_000003.12:119414293:A:G p.(Thr789Ala) NC_000003.12:119414293:A:G p.(Thr789Ala) NC_000003.12:119414293:A:G Identity +NM_024105.4:c.1411A>G NP_077010.1:p.Asn471Asp NC_000022.11:49903893:T:C p.(Asn471Asp) NC_000022.11:49903893:T:C p.(Asn471Asp) NC_000022.11:49903893:T:C Identity +NM_001287489.2:c.153_159dup NP_001274418.1:p.Ser54fs NC_000002.12:26527899:GGCCACCGGCCACCG:GGCCACCGGCCACCGGCCACCG p.(Ser54GlyfsTer9) NC_000002.12:26527899:GGCCACCGGCCACCG:GGCCACCGGCCACCGGCCACCG p.(Ser54GlyfsTer9) ERR:SPDI Analogous +NM_001111034.3:c.331C>T NP_001104504.1:p.His111Tyr NC_000019.10:11576773:G:A p.(His111Tyr) NC_000019.10:11576773:G:A p.(His111Tyr) NC_000019.10:11576773:G:A Identity +NM_005618.4:c.1098T>G NP_005609.3:p.Ser366Arg NC_000006.12:170285069:A:C p.(Ser366Arg) NC_000006.12:170285069:A:C p.(Ser366Arg) NC_000006.12:170285069:A:C Identity +NM_001127649.3:c.56T>C NP_001121121.1:p.Leu19Pro NC_000022.11:18078431:T:C p.(Leu19Pro) NC_000022.11:18078431:T:C p.(Leu19Pro) NC_000022.11:18078431:T:C Identity +NM_001346897.2:c.2819A>G NP_001333826.1:p.Glu940Gly NC_000007.14:55201194:A:G p.(Glu940Gly) NC_000007.14:55201194:A:G p.(Glu940Gly) NC_000007.14:55201194:A:G Identity +NM_015909.4:c.6076G>A NP_056993.2:p.Val2026Ile NC_000002.12:15234614:C:T p.(Val2026Ile) NC_000002.12:15234614:C:T p.(Val2026Ile) NC_000002.12:15234614:C:T Identity +NM_001321120.2:c.1078T>A NP_001308049.1:p.Ser360Thr NC_000017.11:61482952:T:A p.(Ser360Thr) NC_000017.11:61482952:T:A p.(Ser360Thr) NC_000017.11:61482952:T:A Identity +NM_000520.6:c.775A>G NP_000511.2:p.Thr259Ala NC_000015.10:72350547:T:C p.(Thr259Ala) NC_000015.10:72350547:T:C p.(Thr259Ala) NC_000015.10:72350547:T:C Identity +NM_001351059.2:c.826C>G NP_001337988.1:p.Leu276Val NC_000011.10:68049126:C:G p.(Leu276Val) NC_000011.10:68049126:C:G p.(Leu276Val) NC_000011.10:68049126:C:G Identity +NM_205850.3:c.20_29del NP_995322.1:p.Gln7fs NC_000015.10:48121062:CAAACATGGGC:C p.(Gln7ArgfsTer61) NC_000015.10:48121062:CAAACATGGGC:C p.(Gln7ArgfsTer61) NC_000015.10:48121063:AAACATGGGC: Analogous +NM_001173514.2:c.200C>A NP_001166985.1:p.Ala67Glu NC_000019.10:35907260:G:T p.(Ala67Glu) NC_000019.10:35907260:G:T p.(Ala67Glu) NC_000019.10:35907260:G:T Identity +NM_018848.3:c.676C>T NP_061336.1:p.Gln226Ter NC_000020.11:10412838:G:A p.(Gln226Ter) NC_000020.11:10412838:G:A p.(Gln226Ter) NC_000020.11:10412838:G:A Identity +NM_000312.4:c.1195G>A NP_000303.1:p.Glu399Lys NC_000002.12:127428754:G:A p.(Glu399Lys) NC_000002.12:127428754:G:A p.(Glu399Lys) NC_000002.12:127428754:G:A Identity +NM_001290184.2:c.1679A>G NP_001277113.1:p.Asn560Ser NC_000001.11:160356698:A:G p.(Asn560Ser) NC_000001.11:160356698:A:G p.(Asn560Ser) NC_000001.11:160356698:A:G Identity +NM_004656.4:c.656C>T NP_004647.1:p.Ala219Val NC_000003.12:52406831:G:A p.(Ala219Val) NC_000003.12:52406831:G:A p.(Ala219Val) NC_000003.12:52406831:G:A Identity +NM_015384.5:c.5725dup NP_056199.2:p.Thr1909fs NC_000005.10:37026241:AAA:AAAA p.(Thr1909AsnfsTer14) NC_000005.10:37026241:AAA:AAAA p.(Thr1909AsnfsTer14) ERR:SPDI Analogous +NM_000535.7:c.452_456del NP_000526.2:p.Arg151fs NC_000007.14:6002533:GGGGCGGGG:GGGG p.(Arg151GlnfsTer19) NC_000007.14:6002533:GGGGCGGGG:GGGG p.(Arg151GlnfsTer19) NC_000007.14:6002533:GGGGC: Analogous +NM_000076.2:c.946C>T NP_000067.1:p.Arg316Trp NC_000011.10:2884008:G:A p.(Arg316Trp) NC_000011.10:2884008:G:A p.(Arg316Trp) NC_000011.10:2884008:G:A Identity +NM_001304418.3:c.1061A>G NP_001291347.1:p.His354Arg NC_000003.12:69119293:T:C p.(His354Arg) NC_000003.12:69119293:T:C p.(His354Arg) NC_000003.12:69119293:T:C Identity +NM_024928.5:c.574G>A NP_079204.2:p.Ala192Thr NC_000010.11:103898883:C:T p.(Ala192Thr) NC_000010.11:103898883:C:T p.(Ala192Thr) NC_000010.11:103898883:C:T Identity +NM_001311255.1:c.523A>G NP_001298184.1:p.Lys175Glu NC_000015.10:45606502:A:G p.(Lys175Glu) NC_000015.10:45606502:A:G p.(Lys175Glu) NC_000015.10:45606502:A:G Identity +NM_001005498.4:c.155A>G NP_001005498.2:p.Lys52Arg NC_000017.11:76479849:T:C p.(Lys52Arg) NC_000017.11:76479849:T:C p.(Lys52Arg) NC_000017.11:76479849:T:C Identity +NM_001301339.2:c.304C>T NP_001288268.1:p.Gln102Ter NC_000022.11:23766253:G:A p.(Gln102Ter) NC_000022.11:23766253:G:A p.(Gln102Ter) NC_000022.11:23766253:G:A Identity +NM_001258214.1:c.1133C>T NP_001245143.1:p.Thr378Ile NC_000001.11:67350963:C:T p.(Thr378Ile) NC_000001.11:67350963:C:T p.(Thr378Ile) NC_000001.11:67350963:C:T Identity +NM_002299.4:c.5669T>A NP_002290.2:p.Leu1890His NC_000002.12:135788438:A:T p.(Leu1890His) NC_000002.12:135788438:A:T p.(Leu1890His) NC_000002.12:135788438:A:T Identity +NM_001290048.2:c.460T>C NP_001276977.1:p.Tyr154His NC_000011.10:63651982:A:G p.(Tyr154His) NC_000011.10:63651982:A:G p.(Tyr154His) NC_000011.10:63651982:A:G Identity +NM_000064.4:c.2522G>A NP_000055.2:p.Arg841Gln NC_000019.10:6697712:C:T p.(Arg841Gln) NC_000019.10:6697712:C:T p.(Arg841Gln) NC_000019.10:6697712:C:T Identity +NM_001288951.2:c.2507G>A NP_001275880.1:p.Cys836Tyr NC_000002.12:47073780:G:A p.(Cys836Tyr) NC_000002.12:47073780:G:A p.(Cys836Tyr) NC_000002.12:47073780:G:A Identity +NM_001142763.2:c.1846C>T NP_001136235.1:p.Gln616Ter NC_000010.11:54132960:G:A p.(Gln616Ter) NC_000010.11:54132960:G:A p.(Gln616Ter) NC_000010.11:54132960:G:A Identity +NM_001136472.2:c.233C>T NP_001129944.1:p.Thr78Met NC_000016.10:11553676:G:A p.(Thr78Met) NC_000016.10:11553676:G:A p.(Thr78Met) NC_000016.10:11553676:G:A Identity +NM_152393.4:c.223G>T NP_689606.2:p.Glu75Ter NC_000003.12:42685840:G:T p.(Glu75Ter) NC_000003.12:42685840:G:T p.(Glu75Ter) NC_000003.12:42685840:G:T Identity +NM_000083.3:c.2390T>C NP_000074.3:p.Met797Thr NC_000007.14:143346935:T:C p.(Met797Thr) NC_000007.14:143346935:T:C p.(Met797Thr) NC_000007.14:143346935:T:C Identity +NM_001079821.3:c.1633C>G NP_001073289.2:p.Pro545Ala NC_000001.11:247425081:C:G p.(Pro545Ala) NC_000001.11:247425081:C:G p.(Pro545Ala) NC_000001.11:247425081:C:G Identity +NM_002907.4:c.772A>G NP_002898.2:p.Thr258Ala NC_000012.12:21477897:T:C p.(Thr258Ala) NC_000012.12:21477897:T:C p.(Thr258Ala) NC_000012.12:21477897:T:C Identity +NM_001127660.2:c.1253G>T NP_001121132.1:p.Arg418Leu NC_000001.11:12004083:G:T p.(Arg418Leu) NC_000001.11:12004083:G:T p.(Arg418Leu) NC_000001.11:12004083:G:T Identity +NM_001126131.2:c.2485C>T NP_001119603.1:p.Pro829Ser NC_000015.10:89321848:G:A p.(Pro829Ser) NC_000015.10:89321848:G:A p.(Pro829Ser) NC_000015.10:89321848:G:A Identity +NM_001346897.2:c.2930G>A NP_001333826.1:p.Gly977Asp NC_000007.14:55201305:G:A p.(Gly977Asp) NC_000007.14:55201305:G:A p.(Gly977Asp) NC_000007.14:55201305:G:A Identity +NM_001005505.3:c.1015G>A NP_001005505.1:p.Val339Met NC_000003.12:50379568:C:T p.(Val339Met) NC_000003.12:50379568:C:T p.(Val339Met) NC_000003.12:50379568:C:T Identity +NM_001143990.2:c.344AAG[2] NP_001137462.1:p.Glu117del NC_000017.11:7688990:GAAGAAGAAG:GAAGAAG p.(Glu117del) NC_000017.11:7688991:A:AAGAAG ERR:Parse ERR:Parse Identity +NM_003105.6:c.2275G>A NP_003096.2:p.Glu759Lys NC_000011.10:121553944:G:A p.(Glu759Lys) NC_000011.10:121553944:G:A p.(Glu759Lys) NC_000011.10:121553944:G:A Identity +NM_024700.4:c.133C>T NP_078976.2:p.Arg45Cys NC_000001.11:37554096:G:A p.(Arg45Cys) NC_000001.11:37554096:G:A p.(Arg45Cys) NC_000001.11:37554096:G:A Identity +NM_001195610.2:c.1237G>A NP_001182539.1:p.Gly413Ser NC_000006.12:24178418:C:T p.(Gly413Ser) NC_000006.12:24178418:C:T p.(Gly413Ser) NC_000006.12:24178418:C:T Identity +NM_004370.6:c.2914A>G NP_004361.3:p.Arg972Gly NC_000006.12:75165575:T:C p.(Arg972Gly) NC_000006.12:75165575:T:C p.(Arg972Gly) NC_000006.12:75165575:T:C Identity +NM_005359.6:c.1025C>T NP_005350.1:p.Pro342Leu NC_000018.10:51065491:C:T p.(Pro342Leu) NC_000018.10:51065491:C:T p.(Pro342Leu) NC_000018.10:51065491:C:T Identity +NM_001024688.3:c.72C>G NP_001019859.1:p.Phe24Leu NC_000008.11:89981376:G:C p.(Phe24Leu) NC_000008.11:89981376:G:C p.(Phe24Leu) NC_000008.11:89981376:G:C Identity +NM_003803.4:c.4807G>A NP_003794.3:p.Glu1603Lys NC_000018.10:3067512:C:T p.(Glu1603Lys) NC_000018.10:3067512:C:T p.(Glu1603Lys) NC_000018.10:3067512:C:T Identity +NM_000083.3:c.2896C>G NP_000074.3:p.Leu966Val NC_000007.14:143351893:C:G p.(Leu966Val) NC_000007.14:143351893:C:G p.(Leu966Val) NC_000007.14:143351893:C:G Identity +NM_000112.4:c.866C>A NP_000103.2:p.Thr289Asn NC_000005.10:149980458:C:A p.(Thr289Asn) NC_000005.10:149980458:C:A p.(Thr289Asn) NC_000005.10:149980458:C:A Identity +NM_000550.3:c.490A>G NP_000541.1:p.Arg164Gly NC_000009.12:12695618:A:G p.(Arg164Gly) NC_000009.12:12695618:A:G p.(Arg164Gly) NC_000009.12:12695618:A:G Identity +NM_001177431.1:c.1405C>T NP_001170902.1:p.Arg469Cys NC_000012.12:109794006:G:A p.(Arg469Cys) NC_000012.12:109794006:G:A p.(Arg469Cys) NC_000012.12:109794006:G:A Identity +NM_000378.6:c.1160A>G NP_000369.4:p.Asn387Ser NC_000011.10:32396309:T:C p.(Asn387Ser) NC_000011.10:32396309:T:C p.(Asn387Ser) NC_000011.10:32396309:T:C Identity +NM_000760.4:c.560G>C NP_000751.1:p.Cys187Ser NC_000001.11:36473547:C:G p.(Cys187Ser) NC_000001.11:36473547:C:G p.(Cys187Ser) NC_000001.11:36473547:C:G Identity +NM_138694.4:c.4816del NP_619639.3:p.Val1606fs NC_000006.12:52024993:C: p.(Val1606SerfsTer9) NC_000006.12:52024993:C: p.(Val1606SerfsTer9) NC_000006.12:52024993:C: Analogous +NM_001291088.2:c.7726G>A NP_001278017.1:p.Ala2576Thr NC_000019.10:37885944:C:T p.(Ala2576Thr) NC_000019.10:37885944:C:T p.(Ala2576Thr) NC_000019.10:37885944:C:T Identity +NM_001199777.2:c.1186C>T NP_001186706.1:p.Gln396Ter NC_000012.12:89425180:G:A p.(Gln396Ter) NC_000012.12:89425180:G:A p.(Gln396Ter) NC_000012.12:89425180:G:A Identity +NM_002049.4:c.211C>T NP_002040.1:p.His71Tyr NC_000023.11:48791319:C:T p.(His71Tyr) NC_000023.11:48791319:C:T p.(His71Tyr) NC_000023.11:48791319:C:T Identity +NM_001135659.3:c.907A>T NP_001129131.1:p.Met303Leu NC_000002.12:50922669:T:A p.(Met303Leu) NC_000002.12:50922669:T:A p.(Met303Leu) NC_000002.12:50922669:T:A Identity +NM_000368.5:c.148C>G NP_000359.1:p.Leu50Val NC_000009.12:132927262:G:C p.(Leu50Val) NC_000009.12:132927262:G:C p.(Leu50Val) NC_000009.12:132927262:G:C Identity +NM_000135.4:c.1492C>G NP_000126.2:p.Leu498Val NC_000016.10:89783080:G:C p.(Leu498Val) NC_000016.10:89783080:G:C p.(Leu498Val) NC_000016.10:89783080:G:C Identity +NM_001018088.3:c.2032C>G NP_001018098.1:p.Leu678Val NC_000015.10:61981475:G:C p.(Leu678Val) NC_000015.10:61981475:G:C p.(Leu678Val) NC_000015.10:61981475:G:C Identity +NM_001042465.3:c.1261T>C NP_001035930.1:p.Tyr421His NC_000010.11:71819562:A:G p.(Tyr421His) NC_000010.11:71819562:A:G p.(Tyr421His) NC_000010.11:71819562:A:G Identity +NM_000268.4:c.566C>G NP_000259.1:p.Thr189Ser NC_000022.11:29655642:C:G p.(Thr189Ser) NC_000022.11:29655642:C:G p.(Thr189Ser) NC_000022.11:29655642:C:G Identity +NM_005996.4:c.463A>G NP_005987.3:p.Ile155Val NC_000012.12:114681072:T:C p.(Ile155Val) NC_000012.12:114681072:T:C p.(Ile155Val) NC_000012.12:114681072:T:C Identity +NM_000553.6:c.395C>G NP_000544.2:p.Ala132Gly NC_000008.11:31064953:C:G p.(Ala132Gly) NC_000008.11:31064953:C:G p.(Ala132Gly) NC_000008.11:31064953:C:G Identity +NM_001243777.2:c.8C>T NP_001230706.1:p.Ala3Val NC_000011.10:95790705:C:T p.(Ala3Val) NC_000011.10:95790705:C:T p.(Ala3Val) NC_000011.10:95790705:C:T Identity +NM_000428.3:c.3610G>A NP_000419.1:p.Ala1204Thr NC_000014.9:74508645:C:T p.(Ala1204Thr) NC_000014.9:74508645:C:T p.(Ala1204Thr) NC_000014.9:74508645:C:T Identity +NM_022042.4:c.1114C>T NP_071325.2:p.Arg372Cys NC_000004.12:989824:G:A p.(Arg372Cys) NC_000004.12:989824:G:A p.(Arg372Cys) NC_000004.12:989824:G:A Identity +NM_000245.4:c.1622G>C NP_000236.2:p.Cys541Ser NC_000007.14:116740945:G:C p.(Cys541Ser) NC_000007.14:116740945:G:C p.(Cys541Ser) NC_000007.14:116740945:G:C Identity +NM_001035.3:c.8083A>G NP_001026.2:p.Met2695Val NC_000001.11:237655937:A:G p.(Met2695Val) NC_000001.11:237655937:A:G p.(Met2695Val) NC_000001.11:237655937:A:G Identity +NM_000022.4:c.603C>A NP_000013.2:p.Tyr201Ter NC_000020.11:44624204:G:T p.(Tyr201Ter) NC_000020.11:44624204:G:T p.(Tyr201Ter) NC_000020.11:44624204:G:T Identity +NM_001193640.2:c.2041G>A NP_001180569.1:p.Val681Ile NC_000001.11:197427701:G:A p.(Val681Ile) NC_000001.11:197427701:G:A p.(Val681Ile) NC_000001.11:197427701:G:A Identity +NM_001130103.2:c.187T>C NP_001123575.1:p.Phe63Leu NC_000010.11:69802609:T:C p.(Phe63Leu) NC_000010.11:69802609:T:C p.(Phe63Leu) NC_000010.11:69802609:T:C Identity +NM_000271.5:c.3254_3255del NP_000262.2:p.Tyr1085fs NC_000018.10:23535690:ATA:A p.(Tyr1085CysfsTer11) NC_000018.10:23535690:ATA:A p.(Tyr1085CysfsTer11) NC_000018.10:23535690:AT: Analogous +NM_001256864.2:c.2762A>T NP_001243793.1:p.Gln921Leu NC_000001.11:65411376:A:T p.(Gln921Leu) NC_000001.11:65411376:A:T p.(Gln921Leu) NC_000001.11:65411376:A:T Identity +NM_001048210.3:c.817A>G NP_001041675.1:p.Thr273Ala NC_000001.11:108940121:T:C p.(Thr273Ala) NC_000001.11:108940121:T:C p.(Thr273Ala) NC_000001.11:108940121:T:C Identity +NM_000618.5:c.251G>A NP_000609.1:p.Arg84Gln NC_000012.12:102419659:C:T p.(Arg84Gln) NC_000012.12:102419659:C:T p.(Arg84Gln) NC_000012.12:102419659:C:T Identity +NM_001256267.2:c.1147G>A NP_001243196.1:p.Glu383Lys NC_000010.11:68148368:G:A p.(Glu383Lys) NC_000010.11:68148368:G:A p.(Glu383Lys) NC_000010.11:68148368:G:A Identity +NM_005559.4:c.7066A>G NP_005550.2:p.Ile2356Val NC_000018.10:6965416:T:C p.(Ile2356Val) NC_000018.10:6965416:T:C p.(Ile2356Val) NC_000018.10:6965416:T:C Identity +NM_000833.5:c.2833G>A NP_000824.1:p.Asp945Asn NC_000016.10:9764710:C:T p.(Asp945Asn) NC_000016.10:9764710:C:T p.(Asp945Asn) NC_000016.10:9764710:C:T Identity +NM_000263.4:c.1710G>T NP_000254.2:p.Glu570Asp NC_000017.11:42543715:G:T p.(Glu570Asp) NC_000017.11:42543715:G:T p.(Glu570Asp) NC_000017.11:42543715:G:T Identity +NM_003384.3:c.913dup NP_003375.1:p.Thr305fs NC_000014.9:96860577:AAA:AAAA p.(Thr305AsnfsTer9) NC_000014.9:96860577:AAA:AAAA p.(Thr305AsnfsTer9) ERR:SPDI Analogous +NM_000092.5:c.3667C>T NP_000083.3:p.Pro1223Ser NC_000002.12:227032186:G:A p.(Pro1223Ser) NC_000002.12:227032186:G:A p.(Pro1223Ser) NC_000002.12:227032186:G:A Identity +NM_000182.5:c.352_353del NP_000173.2:p.Gln118fs NC_000002.12:26234316:TGTGT:TGT p.(Gln118AlafsTer10) NC_000002.12:26234316:TGTGT:TGT p.(Gln118AlafsTer10) NC_000002.12:26234316:TG: Analogous +NM_001142800.2:c.5554C>G NP_001136272.1:p.Pro1852Ala NC_000006.12:64590312:G:C p.(Pro1852Ala) NC_000006.12:64590312:G:C p.(Pro1852Ala) NC_000006.12:64590312:G:C Identity +NM_001031710.3:c.376A>G NP_001026880.2:p.Ile126Val NC_000007.14:23125105:A:G p.(Ile126Val) NC_000007.14:23125105:A:G p.(Ile126Val) NC_000007.14:23125105:A:G Identity +NM_000264.5:c.2954C>G NP_000255.2:p.Ser985Ter NC_000009.12:95458226:G:C p.(Ser985Ter) NC_000009.12:95458226:G:C p.(Ser985Ter) NC_000009.12:95458226:G:C Identity +NM_022039.4:c.521C>G NP_071322.2:p.Ala174Gly NC_000010.11:101694584:G:C p.(Ala174Gly) NC_000010.11:101694584:G:C p.(Ala174Gly) NC_000010.11:101694584:G:C Identity +NM_001201484.2:c.1225T>C NP_001188413.1:p.Trp409Arg NC_000009.12:35092661:A:G p.(Trp409Arg) NC_000009.12:35092661:A:G p.(Trp409Arg) NC_000009.12:35092661:A:G Identity +NM_001308164.2:c.67T>A NP_001295093.1:p.Trp23Arg NC_000003.12:158644700:T:A p.(Trp23Arg) NC_000003.12:158644700:T:A p.(Trp23Arg) NC_000003.12:158644700:T:A Identity +NM_015629.4:c.1121_1137del NP_056444.3:p.Gln374fs NC_000019.10:54128348:AGCAGGCCAACCGTATGAGC:AGC p.(Gln374LeufsTer95) NC_000019.10:54128348:AGCAGGCCAACCGTATGAGC:AGC p.(Gln374LeufsTer95) NC_000019.10:54128351:AGGCCAACCGTATGAGC: Analogous +NM_001271933.2:c.3271G>A NP_001258862.1:p.Asp1091Asn NC_000011.10:117396594:G:A p.(Asp1091Asn) NC_000011.10:117396594:G:A p.(Asp1091Asn) NC_000011.10:117396594:G:A Identity +NM_001127671.2:c.1578ACA[1] NP_001121143.1:p.Gln527del NC_000005.10:38502653:TGTTGTT:TGTT p.(Gln527del) NC_000005.10:38502658:T:TGT ERR:Parse ERR:Parse Identity +NM_001407571.1:c.196A>G NP_001394500.1:p.Arg66Gly NC_000017.11:43104156:T:C p.(Arg66Gly) NC_000017.11:43104156:T:C p.(Arg66Gly) NC_000017.11:43104156:T:C Identity +NM_004608.4:c.1022G>A NP_004599.2:p.Cys341Tyr NC_000016.10:30086586:C:T p.(Cys341Tyr) NC_000016.10:30086586:C:T p.(Cys341Tyr) NC_000016.10:30086586:C:T Identity +NM_001271440.2:c.532G>A NP_001258369.1:p.Glu178Lys NC_000021.9:44331855:C:T p.(Glu178Lys) NC_000021.9:44331855:C:T p.(Glu178Lys) NC_000021.9:44331855:C:T Identity +NM_001142763.2:c.4576G>A NP_001136235.1:p.Glu1526Lys NC_000010.11:53823170:C:T p.(Glu1526Lys) NC_000010.11:53823170:C:T p.(Glu1526Lys) NC_000010.11:53823170:C:T Identity +NM_001033503.3:c.572G>A NP_001028675.1:p.Arg191His NC_000005.10:134606974:C:T p.(Arg191His) NC_000005.10:134606974:C:T p.(Arg191His) NC_000005.10:134606974:C:T Identity +NM_000057.4:c.742A>G NP_000048.1:p.Ile248Val NC_000015.10:90750009:A:G p.(Ile248Val) NC_000015.10:90750009:A:G p.(Ile248Val) NC_000015.10:90750009:A:G Identity +NM_005359.6:c.332_333del NP_005350.1:p.His111fs NC_000018.10:51048767:AT: p.(His111ArgfsTer2) NC_000018.10:51048767:AT: p.(His111ArgfsTer2) NC_000018.10:51048767:AT: Analogous +NM_001363711.2:c.355G>C NP_001350640.1:p.Val119Leu NC_000015.10:45111925:C:G p.(Val119Leu) NC_000015.10:45111925:C:G p.(Val119Leu) NC_000015.10:45111925:C:G Identity +NM_001105206.3:c.5194C>T NP_001098676.2:p.His1732Tyr NC_000006.12:112114674:G:A p.(His1732Tyr) NC_000006.12:112114674:G:A p.(His1732Tyr) NC_000006.12:112114674:G:A Identity +NM_006445.4:c.55G>A NP_006436.3:p.Ala19Thr NC_000017.11:1684516:C:T p.(Ala19Thr) NC_000017.11:1684516:C:T p.(Ala19Thr) NC_000017.11:1684516:C:T Identity +NM_001024688.3:c.10G>C NP_001019859.1:p.Gly4Arg NC_000008.11:89981438:C:G p.(Gly4Arg) NC_000008.11:89981438:C:G p.(Gly4Arg) NC_000008.11:89981438:C:G Identity +NM_004055.5:c.284C>T NP_004046.2:p.Ser95Leu NC_000011.10:77093799:C:T p.(Ser95Leu) NC_000011.10:77093799:C:T p.(Ser95Leu) NC_000011.10:77093799:C:T Identity +NM_005249.5:c.587A>C NP_005240.3:p.Gln196Pro NC_000014.9:28767865:A:C p.(Gln196Pro) NC_000014.9:28767865:A:C p.(Gln196Pro) NC_000014.9:28767865:A:C Identity +NM_001723.7:c.4769T>C NP_001714.1:p.Met1590Thr NC_000006.12:56619264:A:G p.(Met1590Thr) NC_000006.12:56619264:A:G p.(Met1590Thr) NC_000006.12:56619264:A:G Identity +NM_000255.4:c.1342G>T NP_000246.2:p.Glu448Ter NC_000006.12:49448917:C:A p.(Glu448Ter) NC_000006.12:49448917:C:A p.(Glu448Ter) NC_000006.12:49448917:C:A Identity +NM_001080.3:c.341A>G NP_001071.1:p.Glu114Gly NC_000006.12:24495336:A:G p.(Glu114Gly) NC_000006.12:24495336:A:G p.(Glu114Gly) NC_000006.12:24495336:A:G Identity +NM_001289164.3:c.1365_1367del NP_001276093.1:p.Trp456del NC_000002.12:74534551:CAG: p.(Trp456del) NC_000002.12:74534551:CAG: p.(Trp456del) NC_000002.12:74534551:CAG: Identity +NM_001352017.2:c.305G>A NP_001338946.1:p.Ser102Asn NC_000016.10:871282:C:T p.(Ser102Asn) NC_000016.10:871282:C:T p.(Ser102Asn) NC_000016.10:871282:C:T Identity +NM_001017995.3:c.1462T>C NP_001017995.1:p.Trp488Arg NC_000005.10:172339642:A:G p.(Trp488Arg) NC_000005.10:172339642:A:G p.(Trp488Arg) NC_000005.10:172339642:A:G Identity +NM_001042494.2:c.1965C>G NP_001035959.1:p.Tyr655Ter NC_000015.10:34242121:G:C p.(Tyr655Ter) NC_000015.10:34242121:G:C p.(Tyr655Ter) NC_000015.10:34242121:G:C Identity +NM_000430.4:c.991C>A NP_000421.1:p.Leu331Ile NC_000017.11:2676594:C:A p.(Leu331Ile) NC_000017.11:2676594:C:A p.(Leu331Ile) NC_000017.11:2676594:C:A Identity +NM_001168407.2:c.151A>G NP_001161879.1:p.Thr51Ala NC_000006.12:72233822:A:G p.(Thr51Ala) NC_000006.12:72233822:A:G p.(Thr51Ala) NC_000006.12:72233822:A:G Identity +NM_001363147.1:c.1456G>C NP_001350076.1:p.Ala486Pro NC_000005.10:71652749:G:C p.(Ala486Pro) NC_000005.10:71652749:G:C p.(Ala486Pro) NC_000005.10:71652749:G:C Identity +NM_000444.6:c.496C>T NP_000435.3:p.Arg166Cys NC_000023.11:22077534:C:T p.(Arg166Cys) NC_000023.11:22077534:C:T p.(Arg166Cys) NC_000023.11:22077534:C:T Identity +NM_001288653.2:c.4990A>G NP_001275582.1:p.Thr1664Ala NC_000017.11:59693801:A:G p.(Thr1664Ala) NC_000017.11:59693801:A:G p.(Thr1664Ala) NC_000017.11:59693801:A:G Identity +NM_001256790.3:c.1106C>T NP_001243719.1:p.Ala369Val NC_000023.11:49226944:G:A p.(Ala369Val) NC_000023.11:49226944:G:A p.(Ala369Val) NC_000023.11:49226944:G:A Identity +NM_001290265.2:c.211A>G NP_001277194.1:p.Met71Val NC_000019.10:18884171:T:C p.(Met71Val) NC_000019.10:18884171:T:C p.(Met71Val) NC_000019.10:18884171:T:C Identity +NM_000287.4:c.1943C>T NP_000278.3:p.Thr648Ile NC_000006.12:42966799:G:A p.(Thr648Ile) NC_000006.12:42966799:G:A p.(Thr648Ile) NC_000006.12:42966799:G:A Identity +NM_015909.4:c.6305C>T NP_056993.2:p.Pro2102Leu NC_000002.12:15218899:G:A p.(Pro2102Leu) NC_000002.12:15218899:G:A p.(Pro2102Leu) NC_000002.12:15218899:G:A Identity +NM_000181.4:c.1358C>T NP_000172.2:p.Ala453Val NC_000007.14:65974327:G:A p.(Ala453Val) NC_000007.14:65974327:G:A p.(Ala453Val) NC_000007.14:65974327:G:A Identity +NM_001999.4:c.1624A>G NP_001990.2:p.Asn542Asp NC_000005.10:128378869:T:C p.(Asn542Asp) NC_000005.10:128378869:T:C p.(Asn542Asp) NC_000005.10:128378869:T:C Identity +NM_001146.5:c.901A>G NP_001137.2:p.Thr301Ala NC_000008.11:107303274:T:C p.(Thr301Ala) NC_000008.11:107303274:T:C p.(Thr301Ala) NC_000008.11:107303274:T:C Identity +NM_001082537.3:c.736A>T NP_001076006.1:p.Lys246Ter NC_000012.12:110634692:A:T p.(Lys246Ter) NC_000012.12:110634692:A:T p.(Lys246Ter) NC_000012.12:110634692:A:T Identity +NM_152468.5:c.421C>A NP_689681.2:p.Pro141Thr NC_000017.11:78132480:C:A p.(Pro141Thr) NC_000017.11:78132480:C:A p.(Pro141Thr) NC_000017.11:78132480:C:A Identity +NM_025114.4:c.4246C>T NP_079390.3:p.Arg1416Cys NC_000012.12:88086446:G:A p.(Arg1416Cys) NC_000012.12:88086446:G:A p.(Arg1416Cys) NC_000012.12:88086446:G:A Identity +NM_000760.4:c.218dup NP_000751.1:p.Arg74fs NC_000001.11:36475519:CCCCC:CCCCCC p.(Arg74GlnfsTer7) NC_000001.11:36475519:CCCCC:CCCCCC p.(Arg74GlnfsTer7) ERR:SPDI Analogous +NM_001165963.4:c.3931G>A NP_001159435.1:p.Ala1311Thr NC_000002.12:166009789:C:T p.(Ala1311Thr) NC_000002.12:166009789:C:T p.(Ala1311Thr) NC_000002.12:166009789:C:T Identity +NM_001371986.1:c.2449C>T NP_001358915.1:p.Arg817Cys NC_000002.12:209826023:C:T p.(Arg817Cys) NC_000002.12:209826023:C:T p.(Arg817Cys) NC_000002.12:209826023:C:T Identity +NM_001199397.3:c.2023G>A NP_001186326.1:p.Val675Ile NC_000004.12:169479518:C:T p.(Val675Ile) NC_000004.12:169479518:C:T p.(Val675Ile) NC_000004.12:169479518:C:T Identity +NM_001271938.2:c.5257C>T NP_001258867.1:p.Arg1753Trp NC_000019.10:42358867:C:T p.(Arg1753Trp) NC_000019.10:42358867:C:T p.(Arg1753Trp) NC_000019.10:42358867:C:T Identity +NM_017890.5:c.8680C>G NP_060360.3:p.Leu2894Val NC_000008.11:99818871:C:G p.(Leu2894Val) NC_000008.11:99818871:C:G p.(Leu2894Val) NC_000008.11:99818871:C:G Identity +NM_001347827.2:c.458C>G NP_001334756.1:p.Thr153Ser NC_000004.12:54263756:C:G p.(Thr153Ser) NC_000004.12:54263756:C:G p.(Thr153Ser) NC_000004.12:54263756:C:G Identity +NM_001293306.2:c.3755G>A NP_001280235.2:p.Arg1252His NC_000003.12:38714003:C:T p.(Arg1252His) NC_000003.12:38714003:C:T p.(Arg1252His) NC_000003.12:38714003:C:T Identity +NM_004813.4:c.274G>A NP_004804.2:p.Val92Met NC_000011.10:45915787:C:T p.(Val92Met) NC_000011.10:45915787:C:T p.(Val92Met) NC_000011.10:45915787:C:T Identity +NM_007055.4:c.2200G>A NP_008986.2:p.Gly734Ser NC_000010.11:78004762:C:T p.(Gly734Ser) NC_000010.11:78004762:C:T p.(Gly734Ser) NC_000010.11:78004762:C:T Identity +NM_153006.3:c.34G>A NP_694551.1:p.Ala12Thr NC_000017.11:44004696:G:A p.(Ala12Thr) NC_000017.11:44004696:G:A p.(Ala12Thr) NC_000017.11:44004696:G:A Identity +NM_001256789.3:c.3145C>T NP_001243718.1:p.Arg1049Trp NC_000023.11:49216472:G:A p.(Arg1049Trp) NC_000023.11:49216472:G:A p.(Arg1049Trp) NC_000023.11:49216472:G:A Identity +NM_000059.4:c.9410C>T NP_000050.3:p.Thr3137Ile NC_000013.11:32394841:C:T p.(Thr3137Ile) NC_000013.11:32394841:C:T p.(Thr3137Ile) NC_000013.11:32394841:C:T Identity +NM_001293273.2:c.778_779del NP_001280202.1:p.Leu260fs NC_000003.12:183041703:AGAG:AG p.(Leu260AlafsTer8) NC_000003.12:183041703:AGAG:AG p.(Leu260AlafsTer8) NC_000003.12:183041703:AG: Analogous +NM_032119.4:c.12367A>T NP_115495.3:p.Ile4123Leu NC_000005.10:90774266:A:T p.(Ile4123Leu) NC_000005.10:90774266:A:T p.(Ile4123Leu) NC_000005.10:90774266:A:T Identity +NM_003320.5:c.688C>T NP_003311.2:p.Arg230Trp NC_000011.10:8095622:C:T p.(Arg230Trp) NC_000011.10:8095622:C:T p.(Arg230Trp) NC_000011.10:8095622:C:T Identity +NM_000339.3:c.1238G>A NP_000330.3:p.Trp413Ter NC_000016.10:56879129:G:A p.(Trp413Ter) NC_000016.10:56879129:G:A p.(Trp413Ter) NC_000016.10:56879129:G:A Identity +NM_001031847.3:c.160G>A NP_001027017.1:p.Val54Met NC_000011.10:68812557:C:T p.(Val54Met) NC_000011.10:68812557:C:T p.(Val54Met) NC_000011.10:68812557:C:T Identity +NM_001146008.2:c.497A>T NP_001139480.1:p.Glu166Val NC_000008.11:69832176:T:A p.(Glu166Val) NC_000008.11:69832176:T:A p.(Glu166Val) NC_000008.11:69832176:T:A Identity +NM_182894.3:c.50_51insAT NP_878314.1:p.Ala18fs NC_000014.9:74239610:T:TAT p.(Ala18TrpfsTer24) NC_000014.9:74239610:T:AT p.(Ala18TrpfsTer24) NC_000014.9:74239611:TG:AT Analogous +NM_020778.5:c.3395G>A NP_065829.4:p.Ser1132Asn NC_000015.10:84858132:G:A p.(Ser1132Asn) NC_000015.10:84858132:G:A p.(Ser1132Asn) NC_000015.10:84858132:G:A Identity +NM_018192.4:c.500_501delinsTT NP_060662.2:p.Ala167Val NC_000003.12:189995421:TG:AA p.(Ala167Val) NC_000003.12:189995421:TG:AA p.(Ala167Val) NC_000003.12:189995421:TG:AA Identity +NM_014003.4:c.2417A>G NP_054722.2:p.Asn806Ser NC_000016.10:72105553:A:G p.(Asn806Ser) NC_000016.10:72105553:A:G p.(Asn806Ser) NC_000016.10:72105553:A:G Identity +NM_001039958.2:c.199G>T NP_001035047.1:p.Ala67Ser NC_000015.10:89776555:G:T p.(Ala67Ser) NC_000015.10:89776555:G:T p.(Ala67Ser) NC_000015.10:89776555:G:T Identity +NM_001351508.2:c.1056G>T NP_001338437.1:p.Trp352Cys NC_000002.12:70212820:C:A p.(Trp352Cys) NC_000002.12:70212820:C:A p.(Trp352Cys) NC_000002.12:70212820:C:A Identity +NM_022095.4:c.4001A>G NP_071378.1:p.Tyr1334Cys NC_000020.11:45948980:T:C p.(Tyr1334Cys) NC_000020.11:45948980:T:C p.(Tyr1334Cys) NC_000020.11:45948980:T:C Identity +NM_012120.3:c.1052A>G NP_036252.1:p.Lys351Arg NC_000006.12:47582008:A:G p.(Lys351Arg) NC_000006.12:47582008:A:G p.(Lys351Arg) NC_000006.12:47582008:A:G Identity +NM_001350888.2:c.310G>T NP_001337817.1:p.Asp104Tyr NC_000014.9:96404771:G:T p.(Asp104Tyr) NC_000014.9:96404771:G:T p.(Asp104Tyr) NC_000014.9:96404771:G:T Identity +NM_000059.4:c.8770dup NP_000050.3:p.Glu2924fs NC_000013.11:32379331:G:GG p.(Glu2924GlyfsTer8) NC_000013.11:32379331:G:GG p.(Glu2924GlyfsTer8) ERR:SPDI Analogous +NM_003803.4:c.806A>G NP_003794.3:p.Asn269Ser NC_000018.10:3187602:T:C p.(Asn269Ser) NC_000018.10:3187602:T:C p.(Asn269Ser) NC_000018.10:3187602:T:C Identity +NM_000824.5:c.1054G>A NP_000815.1:p.Val352Met NC_000004.12:157152866:G:A p.(Val352Met) NC_000004.12:157152866:G:A p.(Val352Met) NC_000004.12:157152866:G:A Identity +NM_001258215.1:c.1832C>G NP_001245144.1:p.Pro611Arg NC_000001.11:67395589:C:G p.(Pro611Arg) NC_000001.11:67395589:C:G p.(Pro611Arg) NC_000001.11:67395589:C:G Identity +NM_001365023.1:c.664G>T NP_001351952.1:p.Glu222Ter NC_000009.12:74642808:G:T p.(Glu222Ter) NC_000009.12:74642808:G:T p.(Glu222Ter) NC_000009.12:74642808:G:T Identity +NM_001278192.2:c.73G>A NP_001265121.1:p.Glu25Lys NC_000011.10:62634965:C:T p.(Glu25Lys) NC_000011.10:62634965:C:T p.(Glu25Lys) NC_000011.10:62634965:C:T Identity +NM_000135.4:c.1854C>G NP_000126.2:p.Tyr618Ter NC_000016.10:89775787:G:C p.(Tyr618Ter) NC_000016.10:89775787:G:C p.(Tyr618Ter) NC_000016.10:89775787:G:C Identity +NM_001291018.2:c.66del NP_001277947.1:p.Arg23fs NC_000002.12:231739172:AA:A p.(Arg23GlyfsTer65) NC_000002.12:231739172:AA:A p.(Arg23GlyfsTer65) NC_000002.12:231739172:A: Analogous +NM_001256267.2:c.1081G>T NP_001243196.1:p.Val361Phe NC_000010.11:68145476:G:T p.(Val361Phe) NC_000010.11:68145476:G:T p.(Val361Phe) NC_000010.11:68145476:G:T Identity +NM_017617.5:c.4981C>T NP_060087.3:p.Arg1661Trp NC_000009.12:136504709:G:A p.(Arg1661Trp) NC_000009.12:136504709:G:A p.(Arg1661Trp) NC_000009.12:136504709:G:A Identity +NM_001039141.3:c.3415C>A NP_001034230.1:p.Leu1139Ile NC_000022.11:37725970:C:A p.(Leu1139Ile) NC_000022.11:37725970:C:A p.(Leu1139Ile) NC_000022.11:37725970:C:A Identity +NM_001256560.2:c.115A>G NP_001243489.1:p.Lys39Glu NC_000003.12:58210791:T:C p.(Lys39Glu) NC_000003.12:58210791:T:C p.(Lys39Glu) NC_000003.12:58210791:T:C Identity +NM_207391.3:c.193C>T NP_997274.2:p.Arg65Trp NC_000019.10:32676455:C:T p.(Arg65Trp) NC_000019.10:32676455:C:T p.(Arg65Trp) NC_000019.10:32676455:C:T Identity +NM_000133.4:c.1046G>A NP_000124.1:p.Gly349Glu NC_000023.11:139561730:G:A p.(Gly349Glu) NC_000023.11:139561730:G:A p.(Gly349Glu) NC_000023.11:139561730:G:A Identity +NM_001083962.2:c.955C>A NP_001077431.1:p.Gln319Lys NC_000018.10:55261500:G:T p.(Gln319Lys) NC_000018.10:55261500:G:T p.(Gln319Lys) NC_000018.10:55261500:G:T Identity +NM_001385197.1:c.2036G>A NP_001372126.1:p.Arg679His NC_000019.10:10361521:C:T p.(Arg679His) NC_000019.10:10361521:C:T p.(Arg679His) NC_000019.10:10361521:C:T Identity +NM_001330588.2:c.1657C>T NP_001317517.1:p.Pro553Ser NC_000013.11:102636370:C:T p.(Pro553Ser) NC_000013.11:102636370:C:T p.(Pro553Ser) NC_000013.11:102636370:C:T Identity +NM_003482.4:c.3699G>C NP_003473.3:p.Glu1233Asp NC_000012.12:49049888:C:G p.(Glu1233Asp) NC_000012.12:49049888:C:G p.(Glu1233Asp) NC_000012.12:49049888:C:G Identity +NM_001039885.3:c.1060G>A NP_001034974.1:p.Gly354Arg NC_000019.10:46756509:G:A p.(Gly354Arg) NC_000019.10:46756509:G:A p.(Gly354Arg) NC_000019.10:46756509:G:A Identity +NM_001378442.1:c.1667G>A NP_001365371.1:p.Gly556Asp NC_000002.12:230172900:C:T p.(Gly556Asp) NC_000002.12:230172900:C:T p.(Gly556Asp) NC_000002.12:230172900:C:T Identity +NM_001323082.2:c.140C>T NP_001310011.1:p.Thr47Ile NC_000010.11:13295600:G:A p.(Thr47Ile) NC_000010.11:13295600:G:A p.(Thr47Ile) NC_000010.11:13295600:G:A Identity +NM_001330358.2:c.285A>T NP_001317287.1:p.Glu95Asp NC_000001.11:11802954:T:A p.(Glu95Asp) NC_000001.11:11802954:T:A p.(Glu95Asp) NC_000001.11:11802954:T:A Identity +NM_001382361.1:c.644G>T NP_001369290.1:p.Arg215Leu NC_000011.10:64211403:G:T p.(Arg215Leu) NC_000011.10:64211403:G:T p.(Arg215Leu) NC_000011.10:64211403:G:T Identity +NM_003124.5:c.782A>G NP_003115.1:p.Lys261Arg NC_000002.12:72891532:A:G p.(Lys261Arg) NC_000002.12:72891532:A:G p.(Lys261Arg) NC_000002.12:72891532:A:G Identity +NM_001099403.2:c.1447G>A NP_001092873.1:p.Ala483Thr NC_000004.12:80202908:G:A p.(Ala483Thr) NC_000004.12:80202908:G:A p.(Ala483Thr) NC_000004.12:80202908:G:A Identity +NM_006939.4:c.1732A>G NP_008870.2:p.Lys578Glu NC_000014.9:50159550:T:C p.(Lys578Glu) NC_000014.9:50159550:T:C p.(Lys578Glu) NC_000014.9:50159550:T:C Identity +NM_001174116.3:c.6275C>T NP_001167587.1:p.Ser2092Leu NC_000015.10:51480830:G:A p.(Ser2092Leu) NC_000015.10:51480830:G:A p.(Ser2092Leu) NC_000015.10:51480830:G:A Identity +NM_001130144.3:c.3573C>A NP_001123616.1:p.Ser1191Arg NC_000011.10:65539602:G:T p.(Ser1191Arg) NC_000011.10:65539602:G:T p.(Ser1191Arg) NC_000011.10:65539602:G:T Identity +NM_001005505.3:c.3398C>T NP_001005505.1:p.Pro1133Leu NC_000003.12:50364705:G:A p.(Pro1133Leu) NC_000003.12:50364705:G:A p.(Pro1133Leu) NC_000003.12:50364705:G:A Identity +NM_000411.8:c.1510G>A NP_000402.3:p.Glu504Lys NC_000021.9:36767226:C:T p.(Glu504Lys) NC_000021.9:36767226:C:T p.(Glu504Lys) NC_000021.9:36767226:C:T Identity +NM_213655.5:c.2354A>C NP_998820.3:p.Lys785Thr NC_000012.12:865323:A:C p.(Lys785Thr) NC_000012.12:865323:A:C p.(Lys785Thr) NC_000012.12:865323:A:C Identity +NM_001304481.2:c.2129A>G NP_001291410.1:p.Glu710Gly NC_000012.12:32633660:A:G p.(Glu710Gly) NC_000012.12:32633660:A:G p.(Glu710Gly) NC_000012.12:32633660:A:G Identity +NM_001127244.2:c.2053C>T NP_001120716.1:p.Arg685Cys NC_000009.12:128909216:C:T p.(Arg685Cys) NC_000009.12:128909216:C:T p.(Arg685Cys) NC_000009.12:128909216:C:T Identity +NM_005732.4:c.3176A>G NP_005723.2:p.Lys1059Arg NC_000005.10:132618080:A:G p.(Lys1059Arg) NC_000005.10:132618080:A:G p.(Lys1059Arg) NC_000005.10:132618080:A:G Identity +NM_001160227.2:c.4201G>C NP_001153699.1:p.Asp1401His NC_000015.10:44596315:C:G p.(Asp1401His) NC_000015.10:44596315:C:G p.(Asp1401His) NC_000015.10:44596315:C:G Identity +NM_001313741.1:c.3077C>T NP_001300670.1:p.Ala1026Val NC_000013.11:25961662:C:T p.(Ala1026Val) NC_000013.11:25961662:C:T p.(Ala1026Val) NC_000013.11:25961662:C:T Identity +NM_001081640.2:c.11788T>C NP_001075109.1:p.Phe3930Leu NC_000008.11:47777846:A:G p.(Phe3930Leu) NC_000008.11:47777846:A:G p.(Phe3930Leu) NC_000008.11:47777846:A:G Identity +NM_001252020.2:c.4604C>T NP_001238949.1:p.Ala1535Val NC_000015.10:31002146:G:A p.(Ala1535Val) NC_000015.10:31002146:G:A p.(Ala1535Val) NC_000015.10:31002146:G:A Identity +NM_000455.5:c.1189G>A NP_000446.1:p.Ala397Thr NC_000019.10:1226533:G:A p.(Ala397Thr) NC_000019.10:1226533:G:A p.(Ala397Thr) NC_000019.10:1226533:G:A Identity +NM_001141973.3:c.1390G>A NP_001135445.1:p.Val464Met NC_000001.11:16996112:C:T p.(Val464Met) NC_000001.11:16996112:C:T p.(Val464Met) NC_000001.11:16996112:C:T Identity +NM_001256849.1:c.1455G>T NP_001243778.1:p.Gln485His NC_000019.10:50406477:G:T p.(Gln485His) NC_000019.10:50406477:G:T p.(Gln485His) NC_000019.10:50406477:G:T Identity +NM_001127198.5:c.1814T>C NP_001120670.1:p.Leu605Pro NC_000017.11:78119043:A:G p.(Leu605Pro) NC_000017.11:78119043:A:G p.(Leu605Pro) NC_000017.11:78119043:A:G Identity +NM_001329434.2:c.4825G>A NP_001316363.2:p.Ala1609Thr NC_000007.14:135648415:G:A p.(Ala1609Thr) NC_000007.14:135648415:G:A p.(Ala1609Thr) NC_000007.14:135648415:G:A Identity +NM_000445.5:c.2144C>A NP_000436.2:p.Pro715Gln NC_000008.11:143932148:G:T p.(Pro715Gln) NC_000008.11:143932148:G:T p.(Pro715Gln) NC_000008.11:143932148:G:T Identity +NM_024306.5:c.799G>A NP_077282.3:p.Gly267Ser NC_000016.10:74716586:C:T p.(Gly267Ser) NC_000016.10:74716586:C:T p.(Gly267Ser) NC_000016.10:74716586:C:T Identity +NM_001148.6:c.9829T>C NP_001139.3:p.Ser3277Pro NC_000004.12:113358446:T:C p.(Ser3277Pro) NC_000004.12:113358446:T:C p.(Ser3277Pro) NC_000004.12:113358446:T:C Identity +NM_001004426.3:c.712G>A NP_001004426.1:p.Val238Met NC_000022.11:38140066:C:T p.(Val238Met) NC_000022.11:38140066:C:T p.(Val238Met) NC_000022.11:38140066:C:T Identity +NM_001252650.2:c.602C>T NP_001239579.1:p.Ala201Val NC_000014.9:67685056:G:A p.(Ala201Val) NC_000014.9:67685056:G:A p.(Ala201Val) NC_000014.9:67685056:G:A Identity +NM_018060.4:c.557C>T NP_060530.3:p.Ser186Leu NC_000001.11:220102134:C:T p.(Ser186Leu) NC_000001.11:220102134:C:T p.(Ser186Leu) NC_000001.11:220102134:C:T Identity +NM_003373.4:c.2825G>A NP_003364.1:p.Gly942Asp NC_000010.11:74114262:G:A p.(Gly942Asp) NC_000010.11:74114262:G:A p.(Gly942Asp) NC_000010.11:74114262:G:A Identity +NM_001288705.3:c.61C>T NP_001275634.1:p.Pro21Ser NC_000005.10:150081012:G:A p.(Pro21Ser) NC_000005.10:150081012:G:A p.(Pro21Ser) NC_000005.10:150081012:G:A Identity +NM_001363823.2:c.377A>T NP_001350752.1:p.Tyr126Phe NC_000002.12:32064207:A:T p.(Tyr126Phe) NC_000002.12:32064207:A:T p.(Tyr126Phe) NC_000002.12:32064207:A:T Identity +NM_001193311.2:c.518C>T NP_001180240.2:p.Ala173Val NC_000007.14:40237667:C:T p.(Ala173Val) NC_000007.14:40237667:C:T p.(Ala173Val) NC_000007.14:40237667:C:T Identity +NM_000069.3:c.826G>A NP_000060.2:p.Asp276Asn NC_000001.11:201089331:C:T p.(Asp276Asn) NC_000001.11:201089331:C:T p.(Asp276Asn) NC_000001.11:201089331:C:T Identity +NM_001203247.2:c.754C>T NP_001190176.1:p.Leu252Phe NC_000007.14:148826606:G:A p.(Leu252Phe) NC_000007.14:148826606:G:A p.(Leu252Phe) NC_000007.14:148826606:G:A Identity +NM_001171933.1:c.2054C>T NP_001165404.1:p.Pro685Leu NC_000010.11:71809870:C:T p.(Pro685Leu) NC_000010.11:71809870:C:T p.(Pro685Leu) NC_000010.11:71809870:C:T Identity +NM_001077494.3:c.1087G>A NP_001070962.1:p.Ala363Thr NC_000010.11:102398833:G:A p.(Ala363Thr) NC_000010.11:102398833:G:A p.(Ala363Thr) NC_000010.11:102398833:G:A Identity +NM_173354.5:c.1690C>T NP_775490.2:p.Leu564Phe NC_000021.9:43418313:G:A p.(Leu564Phe) NC_000021.9:43418313:G:A p.(Leu564Phe) NC_000021.9:43418313:G:A Identity +NM_004304.5:c.625C>G NP_004295.2:p.Arg209Gly NC_000002.12:29920034:G:C p.(Arg209Gly) NC_000002.12:29920034:G:C p.(Arg209Gly) NC_000002.12:29920034:G:C Identity +NM_001308301.1:c.841G>A NP_001295230.1:p.Glu281Lys NC_000016.10:46727285:C:T p.(Glu281Lys) NC_000016.10:46727285:C:T p.(Glu281Lys) NC_000016.10:46727285:C:T Identity +NM_001144996.2:c.2873C>G NP_001138468.1:p.Thr958Arg NC_000012.12:55688940:G:C p.(Thr958Arg) NC_000012.12:55688940:G:C p.(Thr958Arg) NC_000012.12:55688940:G:C Identity +NM_013382.7:c.2030C>A NP_037514.2:p.Thr677Lys NC_000014.9:77278730:G:T p.(Thr677Lys) NC_000014.9:77278730:G:T p.(Thr677Lys) NC_000014.9:77278730:G:T Identity +NM_001303496.3:c.4390A>G NP_001290425.1:p.Lys1464Glu NC_000007.14:93131581:T:C p.(Lys1464Glu) NC_000007.14:93131581:T:C p.(Lys1464Glu) NC_000007.14:93131581:T:C Identity +NM_001303458.3:c.868C>T NP_001290387.1:p.Leu290Phe NC_000020.11:43623989:C:T p.(Leu290Phe) NC_000020.11:43623989:C:T p.(Leu290Phe) NC_000020.11:43623989:C:T Identity +NM_003906.5:c.3839C>T NP_003897.2:p.Ala1280Val NC_000021.9:46256881:G:A p.(Ala1280Val) NC_000021.9:46256881:G:A p.(Ala1280Val) NC_000021.9:46256881:G:A Identity +NM_003907.3:c.95C>G NP_003898.2:p.Ala32Gly NC_000003.12:184135479:C:G p.(Ala32Gly) NC_000003.12:184135479:C:G p.(Ala32Gly) NC_000003.12:184135479:C:G Identity +NM_000093.5:c.1728del NP_000084.3:p.Ser578fs NC_000009.12:134753857:T: p.(Ser578AlafsTer4) NC_000009.12:134753857:T: p.(Ser578AlafsTer4) NC_000009.12:134753857:T: Analogous +NM_001105.5:c.251C>T NP_001096.1:p.Pro84Leu NC_000002.12:157780416:G:A p.(Pro84Leu) NC_000002.12:157780416:G:A p.(Pro84Leu) NC_000002.12:157780416:G:A Identity +NM_001199781.2:c.93G>T NP_001186710.1:p.Lys31Asn NC_000012.12:89525126:C:A p.(Lys31Asn) NC_000012.12:89525126:C:A p.(Lys31Asn) NC_000012.12:89525126:C:A Identity +NM_001211.6:c.862T>C NP_001202.5:p.Ser288Pro NC_000015.10:40185274:T:C p.(Ser288Pro) NC_000015.10:40185274:T:C p.(Ser288Pro) NC_000015.10:40185274:T:C Identity +NM_001256959.2:c.2120A>T NP_001243888.2:p.Asp707Val NC_000001.11:11837389:A:T p.(Asp707Val) NC_000001.11:11837389:A:T p.(Asp707Val) NC_000001.11:11837389:A:T Identity +NM_001286130.2:c.1760C>G NP_001273059.1:p.Ser587Cys NC_000016.10:57920409:G:C p.(Ser587Cys) NC_000016.10:57920409:G:C p.(Ser587Cys) NC_000016.10:57920409:G:C Identity +NM_014845.6:c.923C>T NP_055660.1:p.Ala308Val NC_000006.12:109743155:C:T p.(Ala308Val) NC_000006.12:109743155:C:T p.(Ala308Val) NC_000006.12:109743155:C:T Identity +NM_001083116.3:c.806A>C NP_001076585.1:p.His269Pro NC_000010.11:70598914:T:G p.(His269Pro) NC_000010.11:70598914:T:G p.(His269Pro) NC_000010.11:70598914:T:G Identity +NM_006509.4:c.106G>A NP_006500.2:p.Gly36Arg NC_000019.10:45001684:G:A p.(Gly36Arg) NC_000019.10:45001684:G:A p.(Gly36Arg) NC_000019.10:45001684:G:A Identity +NM_001165928.4:c.1532G>A NP_001159400.3:p.Gly511Asp NC_000003.12:49532042:G:A p.(Gly511Asp) NC_000003.12:49532042:G:A p.(Gly511Asp) NC_000003.12:49532042:G:A Identity +NM_001294335.2:c.2809G>C NP_001281264.1:p.Val937Leu NC_000001.11:31737718:C:G p.(Val937Leu) NC_000001.11:31737718:C:G p.(Val937Leu) NC_000001.11:31737718:C:G Identity +NM_015120.4:c.12124C>T NP_055935.4:p.Leu4042Phe NC_000002.12:73602190:C:T p.(Gln4042Ter) NC_000002.12:73602193:C:T p.(Gln4042Ter) NC_000002.12:73602193:C:T Different +NM_003801.4:c.593C>T NP_003792.1:p.Ala198Val NC_000008.11:144084016:C:T p.(Ala198Val) NC_000008.11:144084016:C:T p.(Ala198Val) NC_000008.11:144084016:C:T Identity +NM_001164507.2:c.11506G>A NP_001157979.2:p.Asp3836Asn NC_000002.12:151614370:C:T p.(Asp3836Asn) NC_000002.12:151614370:C:T p.(Asp3836Asn) NC_000002.12:151614370:C:T Identity +NM_001365951.3:c.391A>G NP_001352880.1:p.Asn131Asp NC_000001.11:10261931:A:G p.(Asn131Asp) NC_000001.11:10261931:A:G p.(Asn131Asp) NC_000001.11:10261931:A:G Identity +NM_001142649.2:c.1575C>G NP_001136121.1:p.Ile525Met NC_000011.10:22259688:C:G p.(Ile525Met) NC_000011.10:22259688:C:G p.(Ile525Met) NC_000011.10:22259688:C:G Identity +NM_001128148.3:c.319C>T NP_001121620.1:p.Pro107Ser NC_000003.12:196074044:G:A p.(Pro107Ser) NC_000003.12:196074044:G:A p.(Pro107Ser) NC_000003.12:196074044:G:A Identity +NM_020964.3:c.341G>T NP_066015.2:p.Gly114Val NC_000018.10:45955060:C:A p.(Gly114Val) NC_000018.10:45955060:C:A p.(Gly114Val) NC_000018.10:45955060:C:A Identity +NM_001354609.2:c.80C>T NP_001341538.1:p.Ala27Val NC_000007.14:140924623:G:A p.(Ala27Val) NC_000007.14:140924623:G:A p.(Ala27Val) NC_000007.14:140924623:G:A Identity +NM_001291285.3:c.7963G>A NP_001278214.1:p.Glu2655Lys NC_000004.12:125448972:G:A p.(Glu2655Lys) NC_000004.12:125448972:G:A p.(Glu2655Lys) NC_000004.12:125448972:G:A Identity +NM_001316690.1:c.2432G>A NP_001303619.1:p.Ser811Asn NC_000008.11:60865517:G:A p.(Ser811Asn) NC_000008.11:60865517:G:A p.(Ser811Asn) NC_000008.11:60865517:G:A Identity +NM_002292.4:c.4723C>T NP_002283.3:p.Arg1575Cys NC_000003.12:49122220:G:A p.(Arg1575Cys) NC_000003.12:49122220:G:A p.(Arg1575Cys) NC_000003.12:49122220:G:A Identity +NM_020184.4:c.164A>G NP_064569.3:p.Asn55Ser NC_000002.12:96761162:A:G p.(Asn55Ser) NC_000002.12:96761162:A:G p.(Asn55Ser) NC_000002.12:96761162:A:G Identity +NM_002439.5:c.1886_1887del NP_002430.3:p.Tyr629fs NC_000005.10:80761666:TAT:T p.(Tyr629SerfsTer31) NC_000005.10:80761666:TAT:T p.(Tyr629SerfsTer31) NC_000005.10:80761667:AT: Analogous +NM_001136193.2:c.1279G>C NP_001129665.1:p.Glu427Gln NC_000002.12:206774248:G:C p.(Glu427Gln) NC_000002.12:206774248:G:C p.(Glu427Gln) NC_000002.12:206774248:G:C Identity +NM_025099.6:c.1400A>G NP_079375.3:p.Tyr467Cys NC_000017.11:8235091:T:C p.(Tyr467Cys) NC_000017.11:8235091:T:C p.(Tyr467Cys) NC_000017.11:8235091:T:C Identity +NM_001135.4:c.1463G>A NP_001126.3:p.Arg488His NC_000015.10:88847275:G:A p.(Arg488His) NC_000015.10:88847275:G:A p.(Arg488His) NC_000015.10:88847275:G:A Identity +NM_020461.4:c.2967T>G NP_065194.3:p.Cys989Trp NC_000022.11:50221391:A:C p.(Cys989Trp) NC_000022.11:50221391:A:C p.(Cys989Trp) NC_000022.11:50221391:A:C Identity +NM_000088.4:c.2095_2102del NP_000079.2:p.Ala699fs NC_000017.11:50191812:CCGTTGGCCC:CC p.(Ala699CysfsTer8) NC_000017.11:50191812:CCGTTGGCCC:CC p.(Ala699CysfsTer8) NC_000017.11:50191812:CCGTTGGC: Analogous +NM_001852.4:c.803G>A NP_001843.1:p.Gly268Asp NC_000001.11:40309980:C:T p.(Gly268Asp) NC_000001.11:40309980:C:T p.(Gly268Asp) NC_000001.11:40309980:C:T Identity +NM_001193493.2:c.379G>A NP_001180422.1:p.Ala127Thr NC_000002.12:65018587:G:A p.(Ala127Thr) NC_000002.12:65018587:G:A p.(Ala127Thr) NC_000002.12:65018587:G:A Identity +NM_032634.4:c.2474C>T NP_116023.2:p.Ala825Val NC_000009.12:35091412:G:A p.(Ala825Val) NC_000009.12:35091412:G:A p.(Ala825Val) NC_000009.12:35091412:G:A Identity +NM_018451.5:c.2873G>A NP_060921.3:p.Arg958Gln NC_000013.11:24899536:C:T p.(Arg958Gln) NC_000013.11:24899536:C:T p.(Arg958Gln) NC_000013.11:24899536:C:T Identity +NM_001040428.4:c.98C>T NP_001035518.1:p.Ala33Val NC_000014.9:88396158:C:T p.(Ala33Val) NC_000014.9:88396158:C:T p.(Ala33Val) NC_000014.9:88396158:C:T Identity +NM_001040113.2:c.3791T>C NP_001035202.1:p.Leu1264Pro NC_000016.10:15726935:A:G p.(Leu1264Pro) NC_000016.10:15726935:A:G p.(Leu1264Pro) NC_000016.10:15726935:A:G Identity +NM_001178133.2:c.1120A>G NP_001171604.1:p.Asn374Asp NC_000010.11:102615364:A:G p.(Asn374Asp) NC_000010.11:102615364:A:G p.(Asn374Asp) NC_000010.11:102615364:A:G Identity +NM_001083961.2:c.3550G>T NP_001077430.1:p.Ala1184Ser NC_000019.10:36103377:G:T p.(Ala1184Ser) NC_000019.10:36103377:G:T p.(Ala1184Ser) NC_000019.10:36103377:G:T Identity +NM_001277126.2:c.656C>A NP_001264055.1:p.Ala219Glu NC_000019.10:53811002:G:T p.(Ala219Glu) NC_000019.10:53811002:G:T p.(Ala219Glu) NC_000019.10:53811002:G:T Identity +NM_000920.4:c.196A>G NP_000911.2:p.Ile66Val NC_000011.10:66871811:T:C p.(Ile66Val) NC_000011.10:66871811:T:C p.(Ile66Val) NC_000011.10:66871811:T:C Identity +NM_001306079.2:c.478C>T NP_001293008.1:p.Pro160Ser NC_000002.12:27222318:C:T p.(Pro160Ser) NC_000002.12:27222318:C:T p.(Pro160Ser) NC_000002.12:27222318:C:T Identity +NM_001165962.2:c.8C>T NP_001159434.1:p.Ala3Val NC_000017.11:13017939:G:A p.(Ala3Val) NC_000017.11:13017939:G:A p.(Ala3Val) NC_000017.11:13017939:G:A Identity +NM_001143850.3:c.113G>A NP_001137322.1:p.Gly38Asp NC_000012.12:123671536:G:A p.(Gly38Asp) NC_000012.12:123671536:G:A p.(Gly38Asp) NC_000012.12:123671536:G:A Identity +NM_000138.5:c.925del NP_000129.3:p.Ser309fs NC_000015.10:48526192:T: p.(Ser309AlafsTer21) NC_000015.10:48526192:T: p.(Ser309AlafsTer21) NC_000015.10:48526192:T: Analogous +NM_001190720.3:c.1276A>G NP_001177649.2:p.Ile426Val NC_000008.11:42319372:A:G p.(Ile426Val) NC_000008.11:42319372:A:G p.(Ile426Val) NC_000008.11:42319372:A:G Identity +NM_006158.5:c.1505C>T NP_006149.2:p.Ser502Phe NC_000008.11:24952936:G:A p.(Ser502Phe) NC_000008.11:24952936:G:A p.(Ser502Phe) NC_000008.11:24952936:G:A Identity +NM_001258392.3:c.628G>A NP_001245321.1:p.Gly210Arg NC_000011.10:72380298:C:T p.(Gly210Arg) NC_000011.10:72380298:C:T p.(Gly210Arg) NC_000011.10:72380298:C:T Identity +NM_000492.4:c.754G>A NP_000483.3:p.Ala252Thr NC_000007.14:117536557:G:A p.(Ala252Thr) NC_000007.14:117536557:G:A p.(Ala252Thr) NC_000007.14:117536557:G:A Identity +NM_000660.7:c.169C>A NP_000651.3:p.Leu57Met NC_000019.10:41352875:G:T p.(Leu57Met) NC_000019.10:41352875:G:T p.(Leu57Met) NC_000019.10:41352875:G:T Identity +NM_001378454.1:c.11332A>T NP_001365383.1:p.Arg3778Trp NC_000002.12:73573208:A:T p.(Arg3778Trp) NC_000002.12:73573208:A:T p.(Arg3778Trp) NC_000002.12:73573208:A:T Identity +NM_001330454.2:c.765G>C NP_001317383.1:p.Gln255His NC_000016.10:3523208:G:C p.(Gln255His) NC_000016.10:3523208:G:C p.(Gln255His) NC_000016.10:3523208:G:C Identity +NM_001199579.2:c.880G>A NP_001186508.1:p.Glu294Lys NC_000022.11:38742551:C:T p.(Glu294Lys) NC_000022.11:38742551:C:T p.(Glu294Lys) NC_000022.11:38742551:C:T Identity +NM_020184.4:c.2209A>C NP_064569.3:p.Thr737Pro NC_000002.12:96809397:A:C p.(Thr737Pro) NC_000002.12:96809397:A:C p.(Thr737Pro) NC_000002.12:96809397:A:C Identity +NM_020964.3:c.5762G>A NP_066015.2:p.Ser1921Asn NC_000018.10:45879119:C:T p.(Ser1921Asn) NC_000018.10:45879119:C:T p.(Ser1921Asn) NC_000018.10:45879119:C:T Identity +NM_016107.5:c.1513G>A NP_057191.2:p.Val505Ile NC_000005.10:32403108:C:T p.(Val505Ile) NC_000005.10:32403108:C:T p.(Val505Ile) NC_000005.10:32403108:C:T Identity +NM_005876.5:c.8501C>T NP_005867.3:p.Ser2834Leu NC_000002.12:219489518:C:T p.(Ser2834Leu) NC_000002.12:219489518:C:T p.(Ser2834Leu) NC_000002.12:219489518:C:T Identity +NM_001294332.2:c.4T>C NP_001281261.1:p.Ser2Pro NC_000005.10:218358:T:C p.(Ser2Pro) NC_000005.10:218358:T:C p.(Ser2Pro) NC_000005.10:218358:T:C Identity +NM_001365308.1:c.1371C>G NP_001352237.1:p.Asp457Glu NC_000007.14:34079148:C:G p.(Asp457Glu) NC_000007.14:34079148:C:G p.(Asp457Glu) NC_000007.14:34079148:C:G Identity +NM_000843.4:c.1007T>C NP_000834.2:p.Ile336Thr NC_000005.10:178990596:A:G p.(Ile336Thr) NC_000005.10:178990596:A:G p.(Ile336Thr) NC_000005.10:178990596:A:G Identity +NM_001321431.2:c.7027G>A NP_001308360.1:p.Gly2343Ser NC_000019.10:8085422:C:T p.(Gly2343Ser) NC_000019.10:8085422:C:T p.(Gly2343Ser) NC_000019.10:8085422:C:T Identity +NM_000057.4:c.1683TGA[4] NP_000048.1:p.Asp566del NC_000015.10:90761055:TGATGATGATGATGA:TGATGATGATGA p.(Asp566del) NC_000015.10:90761055:T:TGATGATGATGA ERR:Parse ERR:Parse Identity +NM_000059.4:c.9036_9037insTGATACAGAATTTATCATCTTGCA NP_000050.3:p.Thr3013Ter NC_000013.11:32379809:GATACAGAATTTATCATCTTGCA:GATACAGAATTTATCATCTTGCATGATACAGAATTTATCATCTTGCA p.(Thr3013Ter) NC_000013.11:32379831:A:TGATACAGAATTTATCATCTTGCA p.(Thr3013Ter) NC_000013.11:32379832:AA:TGATACAGAATTTATCATCTTGCA Identity +NM_000170.3:c.365C>T NP_000161.2:p.Ala122Val NC_000009.12:6620288:G:A p.(Ala122Val) NC_000009.12:6620288:G:A p.(Ala122Val) NC_000009.12:6620288:G:A Identity +NM_033109.5:c.1693G>C NP_149100.2:p.Gly565Arg NC_000002.12:55646303:C:G p.(Gly565Arg) NC_000002.12:55646303:C:G p.(Gly565Arg) NC_000002.12:55646303:C:G Identity +NM_001294332.2:c.1015G>A NP_001281261.1:p.Ala339Thr NC_000005.10:235237:G:A p.(Ala339Thr) NC_000005.10:235237:G:A p.(Ala339Thr) NC_000005.10:235237:G:A Identity +NM_016343.4:c.6382A>C NP_057427.3:p.Ile2128Leu NC_000001.11:214645951:A:C p.(Ile2128Leu) NC_000001.11:214645951:A:C p.(Ile2128Leu) NC_000001.11:214645951:A:C Identity +NM_000028.3:c.2033C>G NP_000019.2:p.Thr678Ser NC_000001.11:99881322:C:G p.(Thr678Ser) NC_000001.11:99881322:C:G p.(Thr678Ser) NC_000001.11:99881322:C:G Identity +LRG_1420t1:c.1562A>G LRG_1420p1:p.Asp521Gly NC_000011.10:77162859:A:G ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found ERR:AlignmentMapper(tx_ac=LRG_1420t1, alt_ac=LRG_1420t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1420t1, alt_ac=LRG_1420t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1420t1 not found +NM_001256849.1:c.3301C>A NP_001243778.1:p.Pro1101Thr NC_000019.10:50417923:C:A p.(Pro1101Thr) NC_000019.10:50417923:C:A p.(Pro1101Thr) NC_000019.10:50417923:C:A Identity +NM_001378355.1:c.956C>T NP_001365284.1:p.Pro319Leu NC_000019.10:49830741:C:T p.(Pro319Leu) NC_000019.10:49830741:C:T p.(Pro319Leu) NC_000019.10:49830741:C:T Identity +NM_005515.4:c.445G>A NP_005506.3:p.Gly149Ser NC_000007.14:157009905:C:T p.(Gly149Ser) NC_000007.14:157009905:C:T p.(Gly149Ser) NC_000007.14:157009905:C:T Identity +NM_001291593.2:c.748G>A NP_001278522.1:p.Ala250Thr NC_000001.11:5890884:C:T p.(Ala250Thr) NC_000001.11:5890884:C:T p.(Ala250Thr) NC_000001.11:5890884:C:T Identity +NM_001288705.3:c.924C>G NP_001275634.1:p.Asn308Lys NC_000005.10:150073458:G:C p.(Asn308Lys) NC_000005.10:150073458:G:C p.(Asn308Lys) NC_000005.10:150073458:G:C Identity +NM_153461.4:c.230C>T NP_703191.2:p.Ala77Val NC_000003.12:9917544:C:T p.(Ala77Val) NC_000003.12:9917544:C:T p.(Ala77Val) NC_000003.12:9917544:C:T Identity +NM_013382.7:c.1300del NP_037514.2:p.Arg434fs NC_000014.9:77286775:GGG:GG p.(Arg434GlyfsTer11) NC_000014.9:77286775:GGG:GG p.(Arg434GlyfsTer11) NC_000014.9:77286775:G: Analogous +NM_000477.7:c.272A>G NP_000468.1:p.His91Arg NC_000004.12:73408594:A:G p.(His91Arg) NC_000004.12:73408594:A:G p.(His91Arg) NC_000004.12:73408594:A:G Identity +NM_032444.4:c.1150C>A NP_115820.2:p.Pro384Thr NC_000016.10:3600991:G:T p.(Pro384Thr) NC_000016.10:3600991:G:T p.(Pro384Thr) NC_000016.10:3600991:G:T Identity +NM_001013838.3:c.3493C>T NP_001013860.1:p.Arg1165Ter NC_000016.10:67654602:C:T p.(Arg1165Ter) NC_000016.10:67654602:C:T p.(Arg1165Ter) NC_000016.10:67654602:C:T Identity +NM_000051.4:c.3271G>A NP_000042.3:p.Glu1091Lys NC_000011.10:108272838:G:A p.(Glu1091Lys) NC_000011.10:108272838:G:A p.(Glu1091Lys) NC_000011.10:108272838:G:A Identity +NM_024577.4:c.1463A>G NP_078853.2:p.Asp488Gly NC_000005.10:149028268:T:C p.(Asp488Gly) NC_000005.10:149028268:T:C p.(Asp488Gly) NC_000005.10:149028268:T:C Identity +NM_001385197.1:c.938C>T NP_001372126.1:p.Thr313Ile NC_000019.10:10365589:G:A p.(Thr313Ile) NC_000019.10:10365589:G:A p.(Thr313Ile) NC_000019.10:10365589:G:A Identity +NM_001388492.1:c.3233G>C NP_001375421.1:p.Trp1078Ser NC_000004.12:3146885:G:C p.(Trp1078Ser) NC_000004.12:3146885:G:C p.(Trp1078Ser) NC_000004.12:3146885:G:C Identity +NM_001143838.3:c.1033G>T NP_001137310.1:p.Ala345Ser NC_000017.11:6695747:C:A p.(Ala345Ser) NC_000017.11:6695747:C:A p.(Ala345Ser) NC_000017.11:6695747:C:A Identity +NM_004104.5:c.466G>A NP_004095.4:p.Ala156Thr NC_000017.11:82093407:C:T p.(Ala156Thr) NC_000017.11:82093407:C:T p.(Ala156Thr) NC_000017.11:82093407:C:T Identity +NM_001145079.2:c.1145A>G NP_001138551.1:p.Lys382Arg NC_000013.11:39694703:A:G p.(Lys382Arg) NC_000013.11:39694703:A:G p.(Lys382Arg) NC_000013.11:39694703:A:G Identity +NM_024753.5:c.3782G>T NP_079029.3:p.Ser1261Ile NC_000002.12:165880701:C:A p.(Ser1261Ile) NC_000002.12:165880701:C:A p.(Ser1261Ile) NC_000002.12:165880701:C:A Identity +NM_002294.3:c.1118A>T NP_002285.1:p.Asp373Val NC_000023.11:120431437:T:A p.(Asp373Val) NC_000023.11:120431437:T:A p.(Asp373Val) NC_000023.11:120431437:T:A Identity +NM_001244008.2:c.670A>G NP_001230937.1:p.Ile224Val NC_000002.12:240785038:T:C p.(Ile224Val) NC_000002.12:240785038:T:C p.(Ile224Val) NC_000002.12:240785038:T:C Identity +NM_000400.4:c.1742T>C NP_000391.1:p.Leu581Pro NC_000019.10:45353257:A:G p.(Leu581Pro) NC_000019.10:45353257:A:G p.(Leu581Pro) NC_000019.10:45353257:A:G Identity +NM_001367624.2:c.1963dup NP_001354553.1:p.His655fs NC_000016.10:88429426:CCCCCCC:CCCCCCCC p.(His655ProfsTer83) NC_000016.10:88429426:CCCCCCC:CCCCCCCC p.(His655ProfsTer83) ERR:SPDI Analogous +NM_000733.4:c.119T>C NP_000724.1:p.Ile40Thr NC_000011.10:118312632:T:C p.(Ile40Thr) NC_000011.10:118312632:T:C p.(Ile40Thr) NC_000011.10:118312632:T:C Identity +NM_000378.6:c.1103G>T NP_000369.4:p.Arg368Leu NC_000011.10:32396366:C:A p.(Arg368Leu) NC_000011.10:32396366:C:A p.(Arg368Leu) NC_000011.10:32396366:C:A Identity +NM_001316327.2:c.340G>C NP_001303256.1:p.Val114Leu NC_000003.12:53181230:G:C p.(Val114Leu) NC_000003.12:53181230:G:C p.(Val114Leu) NC_000003.12:53181230:G:C Identity +NM_000489.6:c.3449A>G NP_000480.3:p.Gln1150Arg NC_000023.11:77681806:T:C p.(Gln1150Arg) NC_000023.11:77681806:T:C p.(Gln1150Arg) NC_000023.11:77681806:T:C Identity +NM_199242.3:c.2897G>A NP_954712.1:p.Arg966Gln NC_000017.11:75830084:C:T p.(Arg966Gln) NC_000017.11:75830084:C:T p.(Arg966Gln) NC_000017.11:75830084:C:T Identity +NM_001099679.2:c.851G>A NP_001093149.1:p.Gly284Asp NC_000009.12:116698592:G:A p.(Gly284Asp) NC_000009.12:116698592:G:A p.(Gly284Asp) NC_000009.12:116698592:G:A Identity +NM_001453.3:c.927C>A NP_001444.2:p.Ser309Arg NC_000006.12:1611371:C:A p.(Ser309Arg) NC_000006.12:1611371:C:A p.(Ser309Arg) NC_000006.12:1611371:C:A Identity +NM_004369.4:c.500C>T NP_004360.2:p.Ser167Phe NC_000002.12:237394795:G:A p.(Ser167Phe) NC_000002.12:237394795:G:A p.(Ser167Phe) NC_000002.12:237394795:G:A Identity +NM_004706.4:c.2371G>A NP_004697.2:p.Gly791Ser NC_000019.10:41905793:G:A p.(Gly791Ser) NC_000019.10:41905793:G:A p.(Gly791Ser) NC_000019.10:41905793:G:A Identity +NM_006767.4:c.880C>T NP_006758.2:p.Arg294Cys NC_000022.11:20991715:C:T p.(Arg294Cys) NC_000022.11:20991715:C:T p.(Arg294Cys) NC_000022.11:20991715:C:T Identity +NM_001193333.3:c.958G>A NP_001180262.1:p.Gly320Ser NC_000016.10:30188037:G:A p.(Gly320Ser) NC_000016.10:30188037:G:A p.(Gly320Ser) NC_000016.10:30188037:G:A Identity +NM_033448.3:c.628C>T NP_258259.1:p.Arg210Trp NC_000012.12:52550056:G:A p.(Arg210Trp) NC_000012.12:52550056:G:A p.(Arg210Trp) NC_000012.12:52550056:G:A Identity +NM_032409.3:c.199C>T NP_115785.1:p.Leu67Phe NC_000001.11:20633746:C:T p.(Leu67Phe) NC_000001.11:20633746:C:T p.(Leu67Phe) NC_000001.11:20633746:C:T Identity +NM_001375654.1:c.443G>A NP_001362583.1:p.Gly148Asp NC_000008.11:54621408:G:A p.(Gly148Asp) NC_000008.11:54621408:G:A p.(Gly148Asp) NC_000008.11:54621408:G:A Identity +NM_001040142.2:c.3553A>G NP_001035232.1:p.Ser1185Gly NC_000002.12:165367248:A:G p.(Ser1185Gly) NC_000002.12:165367248:A:G p.(Ser1185Gly) NC_000002.12:165367248:A:G Identity +NM_001318829.2:c.3016C>G NP_001305758.1:p.Pro1006Ala NC_000016.10:2079563:C:G p.(Pro1006Ala) NC_000016.10:2079563:C:G p.(Pro1006Ala) NC_000016.10:2079563:C:G Identity +NM_000533.5:c.614G>A NP_000524.3:p.Arg205Lys NC_000023.11:103787957:G:A p.(Arg205Lys) NC_000023.11:103787957:G:A p.(Arg205Lys) NC_000023.11:103787957:G:A Identity +NM_004531.5:c.5C>T NP_004522.1:p.Ser2Leu NC_000005.10:53107169:G:A p.(Ser2Leu) NC_000005.10:53107169:G:A p.(Ser2Leu) NC_000005.10:53107169:G:A Identity +NM_002392.6:c.226A>C NP_002383.2:p.Lys76Gln NC_000012.12:68816862:A:C p.(Lys76Gln) NC_000012.12:68816862:A:C p.(Lys76Gln) NC_000012.12:68816862:A:C Identity +NM_031296.3:c.97A>C NP_112586.1:p.Ile33Leu NC_000004.12:139454291:A:C p.(Ile33Leu) NC_000004.12:139454291:A:C p.(Ile33Leu) NC_000004.12:139454291:A:C Identity +NM_001310332.2:c.1501G>A NP_001297261.1:p.Ala501Thr NC_000014.9:24151815:G:A p.(Ala501Thr) NC_000014.9:24151815:G:A p.(Ala501Thr) NC_000014.9:24151815:G:A Identity +NM_004646.4:c.3591G>C NP_004637.1:p.Gln1197His NC_000019.10:35830846:C:G p.(Gln1197His) NC_000019.10:35830846:C:G p.(Gln1197His) NC_000019.10:35830846:C:G Identity +NM_001113178.3:c.4468A>G NP_001106649.1:p.Ile1490Val NC_000016.10:69695191:A:G p.(Ile1490Val) NC_000016.10:69695191:A:G p.(Ile1490Val) NC_000016.10:69695191:A:G Identity +NM_001261380.2:c.26C>T NP_001248309.1:p.Ala9Val NC_000001.11:44017107:G:A p.(Ala9Val) NC_000001.11:44017107:G:A p.(Ala9Val) NC_000001.11:44017107:G:A Identity +NM_001382777.1:c.1792G>C NP_001369706.1:p.Asp598His NC_000002.12:9490199:C:G p.(Asp598His) NC_000002.12:9490199:C:G p.(Asp598His) NC_000002.12:9490199:C:G Identity +NM_001347830.2:c.223T>C NP_001334759.1:p.Ser75Pro NC_000004.12:54261228:T:C p.(Ser75Pro) NC_000004.12:54261228:T:C p.(Ser75Pro) NC_000004.12:54261228:T:C Identity +NM_025114.4:c.2408A>G NP_079390.3:p.Asp803Gly NC_000012.12:88109140:T:C p.(Asp803Gly) NC_000012.12:88109140:T:C p.(Asp803Gly) NC_000012.12:88109140:T:C Identity +NM_001142333.2:c.212C>A NP_001135805.1:p.Thr71Lys NC_000016.10:7518330:C:A p.(Thr71Lys) NC_000016.10:7518330:C:A p.(Thr71Lys) NC_000016.10:7518330:C:A Identity +NM_005585.5:c.851C>T NP_005576.3:p.Pro284Leu NC_000015.10:66711700:C:T p.(Pro284Leu) NC_000015.10:66711700:C:T p.(Pro284Leu) NC_000015.10:66711700:C:T Identity +NM_001317335.2:c.185T>C NP_001304264.1:p.Leu62Pro NC_000019.10:860724:T:C p.(Leu62Pro) NC_000019.10:860724:T:C p.(Leu62Pro) NC_000019.10:860724:T:C Identity +NM_000350.3:c.6442T>C NP_000341.2:p.Phe2148Leu NC_000001.11:94000872:A:G p.(Phe2148Leu) NC_000001.11:94000872:A:G p.(Phe2148Leu) NC_000001.11:94000872:A:G Identity +NM_000246.4:c.1536_1537insTTGCGGTC NP_000237.2:p.Ser513fs NC_000016.10:10907027:C:CTTGCGGTC p.(Ser513LeufsTer48) NC_000016.10:10907027:C:TTGCGGTC p.(Ser513LeufsTer48) NC_000016.10:10907028:CA:TTGCGGTC Analogous +NM_001161520.2:c.1238C>T NP_001154992.2:p.Thr413Ile NC_000007.14:107298216:G:A p.(Thr413Ile) NC_000007.14:107298216:G:A p.(Thr413Ile) NC_000007.14:107298216:G:A Identity +NM_001317163.2:c.1495A>G NP_001304092.1:p.Ile499Val NC_000009.12:121020004:T:C p.(Ile499Val) NC_000009.12:121020004:T:C p.(Ile499Val) NC_000009.12:121020004:T:C Identity +NM_001256850.1:c.90223A>G NP_001243779.1:p.Thr30075Ala NC_000002.12:178546089:T:C p.(Thr30075Ala) NC_000002.12:178546089:T:C p.(Thr30075Ala) NC_000002.12:178546089:T:C Identity +NM_000813.3:c.196A>G NP_000804.1:p.Ile66Val NC_000005.10:161545267:T:C p.(Ile66Val) NC_000005.10:161545267:T:C p.(Ile66Val) NC_000005.10:161545267:T:C Identity +NM_001089.3:c.3865A>G NP_001080.2:p.Ile1289Val NC_000016.10:2283355:T:C p.(Ile1289Val) NC_000016.10:2283355:T:C p.(Ile1289Val) NC_000016.10:2283355:T:C Identity +NM_000059.4:c.8983G>A NP_000050.3:p.Asp2995Asn NC_000013.11:32379778:G:A p.(Asp2995Asn) NC_000013.11:32379778:G:A p.(Asp2995Asn) NC_000013.11:32379778:G:A Identity +NM_001195227.2:c.1840G>T NP_001182156.1:p.Asp614Tyr NC_000019.10:49188736:G:T p.(Asp614Tyr) NC_000019.10:49188736:G:T p.(Asp614Tyr) NC_000019.10:49188736:G:T Identity +NM_001195302.2:c.700C>T NP_001182231.1:p.Arg234Cys NC_000016.10:58020200:C:T p.(Arg234Cys) NC_000016.10:58020200:C:T p.(Arg234Cys) NC_000016.10:58020200:C:T Identity +NM_000612.6:c.59C>T NP_000603.1:p.Ser20Leu NC_000011.10:2135464:G:A p.(Ser20Leu) NC_000011.10:2135464:G:A p.(Ser20Leu) NC_000011.10:2135464:G:A Identity +NM_000891.3:c.1238G>T NP_000882.1:p.Ser413Ile NC_000017.11:70176276:G:T p.(Ser413Ile) NC_000017.11:70176276:G:T p.(Ser413Ile) NC_000017.11:70176276:G:T Identity +NM_000170.3:c.1546A>G NP_000161.2:p.Thr516Ala NC_000009.12:6589228:T:C p.(Thr516Ala) NC_000009.12:6589228:T:C p.(Thr516Ala) NC_000009.12:6589228:T:C Identity +NM_001184728.3:c.271C>T NP_001171657.1:p.Gln91Ter NC_000020.11:45416599:C:T p.(Gln91Ter) NC_000020.11:45416599:C:T p.(Gln91Ter) NC_000020.11:45416599:C:T Identity +NM_001270949.2:c.766C>T NP_001257878.1:p.Arg256Cys NC_000018.10:62366742:C:T p.(Arg256Cys) NC_000018.10:62366742:C:T p.(Arg256Cys) NC_000018.10:62366742:C:T Identity +NM_001350248.2:c.814G>A NP_001337177.1:p.Glu272Lys NC_000001.11:243304754:G:A p.(Glu272Lys) NC_000001.11:243304754:G:A p.(Glu272Lys) NC_000001.11:243304754:G:A Identity +NM_003327.4:c.88C>T NP_003318.1:p.His30Tyr NC_000001.11:1214039:G:A p.(His30Tyr) NC_000001.11:1214039:G:A p.(His30Tyr) NC_000001.11:1214039:G:A Identity +NM_000280.6:c.482G>A NP_000271.1:p.Gly161Asp NC_000011.10:31800731:C:T p.(Gly161Asp) NC_000011.10:31800731:C:T p.(Gly161Asp) NC_000011.10:31800731:C:T Identity +NM_001278511.2:c.2152G>A NP_001265440.1:p.Val718Met NC_000015.10:82663931:C:T p.(Val718Met) NC_000015.10:82663931:C:T p.(Val718Met) NC_000015.10:82663931:C:T Identity +NM_001257096.2:c.563A>C NP_001244025.1:p.Asp188Ala NC_000020.11:21706713:A:C p.(Asp188Ala) NC_000020.11:21706713:A:C p.(Asp188Ala) NC_000020.11:21706713:A:C Identity +NM_005751.5:c.4414G>A NP_005742.4:p.Ala1472Thr NC_000007.14:92038493:G:A p.(Ala1472Thr) NC_000007.14:92038493:G:A p.(Ala1472Thr) NC_000007.14:92038493:G:A Identity +NM_001145472.3:c.793dup NP_001138944.1:p.Ile265fs NC_000018.10:46534420:TTTTTT:TTTTTTT p.(Ile265AsnfsTer6) NC_000018.10:46534420:TTTTTT:TTTTTTT p.(Ile265AsnfsTer6) ERR:SPDI Analogous +NM_001280787.1:c.536T>A NP_001267716.1:p.Leu179Gln NC_000009.12:133351952:A:T p.(Leu179Gln) NC_000009.12:133351952:A:T p.(Leu179Gln) NC_000009.12:133351952:A:T Identity +NM_000428.3:c.4919G>A NP_000419.1:p.Arg1640His NC_000014.9:74502903:C:T p.(Arg1640His) NC_000014.9:74502903:C:T p.(Arg1640His) NC_000014.9:74502903:C:T Identity +NM_000246.4:c.674G>A NP_000237.2:p.Gly225Glu NC_000016.10:10902702:G:A p.(Gly225Glu) NC_000016.10:10902702:G:A p.(Gly225Glu) NC_000016.10:10902702:G:A Identity +NM_000632.4:c.244G>C NP_000623.2:p.Val82Leu NC_000016.10:31265815:G:C p.(Val82Leu) NC_000016.10:31265815:G:C p.(Val82Leu) NC_000016.10:31265815:G:C Identity +NM_005546.4:c.1229T>C NP_005537.3:p.Met410Thr NC_000005.10:157243790:T:C p.(Met410Thr) NC_000005.10:157243790:T:C p.(Met410Thr) NC_000005.10:157243790:T:C Identity +NM_000346.4:c.844G>A NP_000337.1:p.Val282Ile NC_000017.11:72123700:G:A p.(Val282Ile) NC_000017.11:72123700:G:A p.(Val282Ile) NC_000017.11:72123700:G:A Identity +NM_001211.6:c.1910G>A NP_001202.5:p.Arg637Lys NC_000015.10:40206358:G:A p.(Arg637Lys) NC_000015.10:40206358:G:A p.(Arg637Lys) NC_000015.10:40206358:G:A Identity +NM_001148.6:c.10523G>A NP_001139.3:p.Ser3508Asn NC_000004.12:113359140:G:A p.(Ser3508Asn) NC_000004.12:113359140:G:A p.(Ser3508Asn) NC_000004.12:113359140:G:A Identity +NM_014639.4:c.4682T>G NP_055454.1:p.Leu1561Trp NC_000005.10:95464619:A:C p.(Leu1561Trp) NC_000005.10:95464619:A:C p.(Leu1561Trp) NC_000005.10:95464619:A:C Identity +NM_005876.5:c.3912C>A NP_005867.3:p.Asn1304Lys NC_000002.12:219472302:C:A p.(Asn1304Lys) NC_000002.12:219472302:C:A p.(Asn1304Lys) NC_000002.12:219472302:C:A Identity +NM_000211.5:c.493C>T NP_000202.3:p.Arg165Cys NC_000021.9:44903370:G:A p.(Arg165Cys) NC_000021.9:44903370:G:A p.(Arg165Cys) NC_000021.9:44903370:G:A Identity +NM_000322.5:c.751A>G NP_000313.2:p.Arg251Gly NC_000006.12:42704441:T:C p.(Arg251Gly) NC_000006.12:42704441:T:C p.(Arg251Gly) NC_000006.12:42704441:T:C Identity +NM_181714.4:c.1273G>C NP_859065.2:p.Ala425Pro NC_000006.12:79487824:C:G p.(Ala425Pro) NC_000006.12:79487824:C:G p.(Ala425Pro) NC_000006.12:79487824:C:G Identity +NM_004260.4:c.814C>A NP_004251.4:p.Pro272Thr NC_000008.11:144516304:G:T p.(Pro272Thr) NC_000008.11:144516304:G:T p.(Pro272Thr) NC_000008.11:144516304:G:T Identity +NM_019074.4:c.1321G>A NP_061947.1:p.Val441Ile NC_000015.10:40936307:G:A p.(Val441Ile) NC_000015.10:40936307:G:A p.(Val441Ile) NC_000015.10:40936307:G:A Identity +NM_000147.5:c.11C>T NP_000138.2:p.Pro4Leu NC_000001.11:23868275:G:A p.(Pro4Leu) NC_000001.11:23868275:G:A p.(Pro4Leu) NC_000001.11:23868275:G:A Identity +NM_001256876.3:c.1870G>C NP_001243805.1:p.Glu624Gln NC_000009.12:712635:G:C p.(Glu624Gln) NC_000009.12:712635:G:C p.(Glu624Gln) NC_000009.12:712635:G:C Identity +NM_000334.4:c.1612G>C NP_000325.4:p.Glu538Gln NC_000017.11:63961425:C:G p.(Glu538Gln) NC_000017.11:63961425:C:G p.(Glu538Gln) NC_000017.11:63961425:C:G Identity +NM_001256850.1:c.40751_40752del NP_001243779.1:p.Val13584fs NC_000002.12:178620934:AA: p.(Val13584GlyfsTer5) NC_000002.12:178620934:AA: p.(Val13584GlyfsTer5) NC_000002.12:178620934:AA: Analogous +NM_001347701.2:c.199C>T NP_001334630.1:p.Arg67Trp NC_000006.12:152176427:G:A p.(Arg67Trp) NC_000006.12:152176427:G:A p.(Arg67Trp) NC_000006.12:152176427:G:A Identity +NM_004260.4:c.815C>T NP_004251.4:p.Pro272Leu NC_000008.11:144516303:G:A p.(Pro272Leu) NC_000008.11:144516303:G:A p.(Pro272Leu) NC_000008.11:144516303:G:A Identity +NM_014714.4:c.2312C>T NP_055529.2:p.Ala771Val NC_000016.10:1558021:G:A p.(Ala771Val) NC_000016.10:1558021:G:A p.(Ala771Val) NC_000016.10:1558021:G:A Identity +NM_178857.6:c.330del NP_849188.4:p.Lys111fs NC_000008.11:10622871:GGGGGG:GGGGG p.(Lys111ArgfsTer46) NC_000008.11:10622871:GGGGGG:GGGGG p.(Lys111ArgfsTer46) NC_000008.11:10622871:G: Analogous +NM_005188.4:c.1786C>T NP_005179.2:p.Pro596Ser NC_000011.10:119285410:C:T p.(Pro596Ser) NC_000011.10:119285410:C:T p.(Pro596Ser) NC_000011.10:119285410:C:T Identity +NM_001098802.3:c.478A>G NP_001092272.1:p.Ile160Val NC_000009.12:78240342:A:G p.(Ile160Val) NC_000009.12:78240342:A:G p.(Ile160Val) NC_000009.12:78240342:A:G Identity +NM_001193300.2:c.1634G>A NP_001180229.1:p.Trp545Ter NC_000001.11:156175596:G:A p.(Trp545Ter) NC_000001.11:156175596:G:A p.(Trp545Ter) NC_000001.11:156175596:G:A Identity +NM_003482.4:c.11807AGC[3] NP_003473.3:p.Gln3939del NC_000012.12:49032886:GCTGCTGCTGCTG:GCTGCTGCTG p.(Gln3939del) NC_000012.12:49032897:T:GCTGCTGCT ERR:Parse ERR:Parse Identity +NM_001282933.2:c.347C>G NP_001269862.1:p.Thr116Arg NC_000020.11:33748929:C:G p.(Thr116Arg) NC_000020.11:33748929:C:G p.(Thr116Arg) NC_000020.11:33748929:C:G Identity +NM_001174150.2:c.554G>A NP_001167621.1:p.Trp185Ter NC_000003.12:94036618:G:A p.(Trp185Ter) NC_000003.12:94036618:G:A p.(Trp185Ter) NC_000003.12:94036618:G:A Identity +NM_000126.4:c.263T>C NP_000117.1:p.Leu88Pro NC_000015.10:76292623:A:G p.(Leu88Pro) NC_000015.10:76292623:A:G p.(Leu88Pro) NC_000015.10:76292623:A:G Identity +NM_001164674.2:c.1001C>T NP_001158146.1:p.Ser334Leu NC_000003.12:4362192:G:A p.(Ser334Leu) NC_000003.12:4362192:G:A p.(Ser334Leu) NC_000003.12:4362192:G:A Identity +NM_001306079.2:c.2819A>G NP_001293008.1:p.Tyr940Cys NC_000002.12:27233327:A:G p.(Tyr940Cys) NC_000002.12:27233327:A:G p.(Tyr940Cys) NC_000002.12:27233327:A:G Identity +NM_006231.4:c.2254_2255delinsAA NP_006222.2:p.Ser752Asn NC_000012.12:132667566:GA:TT p.(Ser752Asn) NC_000012.12:132667566:GA:TT p.(Ser752Asn) NC_000012.12:132667566:GA:TT Identity +NM_000251.3:c.1408G>C NP_000242.1:p.Val470Leu NC_000002.12:47463051:G:C p.(Val470Leu) NC_000002.12:47463051:G:C p.(Val470Leu) NC_000002.12:47463051:G:C Identity +NM_001304482.2:c.4211C>T NP_001291411.1:p.Pro1404Leu NC_000003.12:47412862:C:T p.(Pro1404Leu) NC_000003.12:47412862:C:T p.(Pro1404Leu) NC_000003.12:47412862:C:T Identity +NM_001318245.2:c.2960C>T NP_001305174.1:p.Thr987Met NC_000022.11:25828948:C:T p.(Thr987Met) NC_000022.11:25828948:C:T p.(Thr987Met) NC_000022.11:25828948:C:T Identity +NM_001112808.3:c.548C>G NP_001106279.3:p.Ser183Ter NC_000001.11:74250680:C:G p.(Ser183Ter) NC_000001.11:74250680:C:G p.(Ser183Ter) NC_000001.11:74250680:C:G Identity +NM_001195227.2:c.2987G>A NP_001182156.1:p.Arg996Gln NC_000019.10:49210802:G:A p.(Arg996Gln) NC_000019.10:49210802:G:A p.(Arg996Gln) NC_000019.10:49210802:G:A Identity +NM_000065.5:c.379T>C NP_000056.2:p.Cys127Arg NC_000005.10:41199833:A:G p.(Cys127Arg) NC_000005.10:41199833:A:G p.(Cys127Arg) NC_000005.10:41199833:A:G Identity +NM_000118.4:c.500G>T NP_000109.1:p.Ser167Ile NC_000009.12:127826532:C:A p.(Ser167Ile) NC_000009.12:127826532:C:A p.(Ser167Ile) NC_000009.12:127826532:C:A Identity +NM_000322.5:c.431C>A NP_000313.2:p.Thr144Lys NC_000006.12:42721903:G:T p.(Thr144Lys) NC_000006.12:42721903:G:T p.(Thr144Lys) NC_000006.12:42721903:G:T Identity +NM_001271933.2:c.1583A>G NP_001258862.1:p.Gln528Arg NC_000011.10:117381864:A:G p.(Gln528Arg) NC_000011.10:117381864:A:G p.(Gln528Arg) NC_000011.10:117381864:A:G Identity +NM_001365819.1:c.5335T>C NP_001352748.1:p.Trp1779Arg NC_000022.11:50447562:A:G p.(Trp1779Arg) NC_000022.11:50447562:A:G p.(Trp1779Arg) NC_000022.11:50447562:A:G Identity +NM_001100913.3:c.791T>C NP_001094383.2:p.Val264Ala NC_000014.9:105369889:T:C p.(Val264Ala) NC_000014.9:105369889:T:C p.(Val264Ala) NC_000014.9:105369889:T:C Identity +NM_000308.4:c.233T>C NP_000299.3:p.Val78Ala NC_000020.11:45891953:T:C p.(Val78Ala) NC_000020.11:45891953:T:C p.(Val78Ala) NC_000020.11:45891953:T:C Identity +NM_020223.4:c.298T>A NP_064608.2:p.Ser100Thr NC_000007.14:193496:T:A p.(Ser100Thr) NC_000007.14:193496:T:A p.(Ser100Thr) NC_000007.14:193496:T:A Identity +NM_000836.4:c.2926G>C NP_000827.2:p.Gly976Arg NC_000019.10:48442851:G:C p.(Gly976Arg) NC_000019.10:48442851:G:C p.(Gly976Arg) NC_000019.10:48442851:G:C Identity +NM_001080976.3:c.331A>G NP_001074445.1:p.Met111Val NC_000006.12:116399580:A:G p.(Met111Val) NC_000006.12:116399580:A:G p.(Met111Val) NC_000006.12:116399580:A:G Identity +NM_001242307.2:c.2948C>T NP_001229236.1:p.Ser983Leu NC_000010.11:3138309:G:A p.(Ser983Leu) NC_000010.11:3138309:G:A p.(Ser983Leu) NC_000010.11:3138309:G:A Identity +NM_001195573.1:c.2613C>A NP_001182502.1:p.Asp871Glu NC_000014.9:95107916:G:T p.(Asp871Glu) NC_000014.9:95107916:G:T p.(Asp871Glu) NC_000014.9:95107916:G:T Identity +NM_001291285.3:c.8251G>C NP_001278214.1:p.Gly2751Arg NC_000004.12:125449260:G:C p.(Gly2751Arg) NC_000004.12:125449260:G:C p.(Gly2751Arg) NC_000004.12:125449260:G:C Identity +NM_001131019.3:c.32G>C NP_001124491.1:p.Arg11Pro NC_000017.11:44915454:C:G p.(Arg11Pro) NC_000017.11:44915454:C:G p.(Arg11Pro) NC_000017.11:44915454:C:G Identity +NM_001145288.2:c.1180C>T NP_001138760.1:p.Arg394Cys NC_000012.12:100418060:C:T p.(Arg394Cys) NC_000012.12:100418060:C:T p.(Arg394Cys) NC_000012.12:100418060:C:T Identity +NM_021961.6:c.598G>A NP_068780.2:p.Ala200Thr NC_000011.10:12883023:G:A p.(Ala200Thr) NC_000011.10:12883023:G:A p.(Ala200Thr) NC_000011.10:12883023:G:A Identity +NM_001008211.1:c.1490C>G NP_001008212.1:p.Ala497Gly NC_000010.11:13132154:C:G p.(Ala497Gly) NC_000010.11:13132154:C:G p.(Ala497Gly) NC_000010.11:13132154:C:G Identity +NM_001379500.1:c.259C>T NP_001366429.1:p.Leu87Phe NC_000021.9:45468393:C:T p.(Leu87Phe) NC_000021.9:45468393:C:T p.(Leu87Phe) NC_000021.9:45468393:C:T Identity +NM_001363725.2:c.3124A>C NP_001350654.1:p.Ser1042Arg NC_000006.12:157206394:A:C p.(Ser1042Arg) NC_000006.12:157206394:A:C p.(Ser1042Arg) NC_000006.12:157206394:A:C Identity +NM_206933.4:c.10666G>T NP_996816.3:p.Gly3556Ter NC_000001.11:215782115:C:A p.(Gly3556Ter) NC_000001.11:215782115:C:A p.(Gly3556Ter) NC_000001.11:215782115:C:A Identity +NM_001193640.2:c.721G>T NP_001180569.1:p.Glu241Ter NC_000001.11:197356898:G:T p.(Glu241Ter) NC_000001.11:197356898:G:T p.(Glu241Ter) NC_000001.11:197356898:G:T Identity +NM_000057.4:c.2559del NP_000048.1:p.Phe853fs NC_000015.10:90782822:TTT:TT p.(Phe853LeufsTer3) NC_000015.10:90782822:TTT:TT p.(Phe853LeufsTer3) NC_000015.10:90782824:T: Analogous +NM_001310332.2:c.598C>T NP_001297261.1:p.Arg200Trp NC_000014.9:24150301:C:T p.(Arg200Trp) NC_000014.9:24150301:C:T p.(Arg200Trp) NC_000014.9:24150301:C:T Identity +NM_001080114.2:c.968C>T NP_001073583.1:p.Pro323Leu NC_000010.11:86716392:C:T p.(Pro323Leu) NC_000010.11:86716392:C:T p.(Pro323Leu) NC_000010.11:86716392:C:T Identity +NM_012281.3:c.17C>G NP_036413.1:p.Ala6Gly NC_000007.14:120274648:C:G p.(Ala6Gly) NC_000007.14:120274648:C:G p.(Ala6Gly) NC_000007.14:120274648:C:G Identity +NM_016580.4:c.2449C>T NP_057664.1:p.His817Tyr NC_000005.10:141955402:G:A p.(His817Tyr) NC_000005.10:141955402:G:A p.(His817Tyr) NC_000005.10:141955402:G:A Identity +NM_001365999.1:c.4069C>T NP_001352928.1:p.Pro1357Ser NC_000001.11:43428388:C:T p.(Pro1357Ser) NC_000001.11:43428388:C:T p.(Pro1357Ser) NC_000001.11:43428388:C:T Identity +NM_000028.3:c.3215A>T NP_000019.2:p.Glu1072Val NC_000001.11:99892562:A:T p.(Glu1072Val) NC_000001.11:99892562:A:T p.(Glu1072Val) NC_000001.11:99892562:A:T Identity +NM_000080.4:c.428T>C NP_000071.1:p.Ile143Thr NC_000017.11:4902003:A:G p.(Ile143Thr) NC_000017.11:4902003:A:G p.(Ile143Thr) NC_000017.11:4902003:A:G Identity +NM_001377292.1:c.310A>G NP_001364221.1:p.Ile104Val NC_000003.12:192170463:T:C p.(Ile104Val) NC_000003.12:192170463:T:C p.(Ile104Val) NC_000003.12:192170463:T:C Identity +NM_000156.6:c.520T>C NP_000147.1:p.Trp174Arg NC_000019.10:1398965:A:G p.(Trp174Arg) NC_000019.10:1398965:A:G p.(Trp174Arg) NC_000019.10:1398965:A:G Identity +NM_000548.5:c.1823G>A NP_000539.2:p.Ser608Asn NC_000016.10:2070561:G:A p.(Ser608Asn) NC_000016.10:2070561:G:A p.(Ser608Asn) NC_000016.10:2070561:G:A Identity +NM_001145853.1:c.2597A>G NP_001139325.1:p.Asp866Gly NC_000004.12:6302391:A:G p.(Asp866Gly) NC_000004.12:6302391:A:G p.(Asp866Gly) NC_000004.12:6302391:A:G Identity +NM_001283009.2:c.526A>G NP_001269938.1:p.Asn176Asp NC_000020.11:63662876:A:G p.(Asn176Asp) NC_000020.11:63662876:A:G p.(Asn176Asp) NC_000020.11:63662876:A:G Identity +NM_000109.4:c.8393A>G NP_000100.3:p.Gln2798Arg NC_000023.11:31496917:T:C p.(Gln2798Arg) NC_000023.11:31496917:T:C p.(Gln2798Arg) NC_000023.11:31496917:T:C Identity +NM_001039958.2:c.295C>A NP_001035047.1:p.Arg99Ser NC_000015.10:89776651:C:A p.(Arg99Ser) NC_000015.10:89776651:C:A p.(Arg99Ser) NC_000015.10:89776651:C:A Identity +NM_001261427.3:c.128G>C NP_001248356.1:p.Arg43Pro NC_000002.12:11765650:G:C p.(Arg43Pro) NC_000002.12:11765650:G:C p.(Arg43Pro) NC_000002.12:11765650:G:C Identity +NM_000251.3:c.1828del NP_000242.1:p.His610fs NC_000002.12:47475092:C: p.(His610ThrfsTer25) NC_000002.12:47475092:C: p.(His610ThrfsTer25) NC_000002.12:47475092:C: Analogous +NM_001374425.1:c.556G>A NP_001361354.1:p.Gly186Ser NC_000001.11:2408495:C:T p.(Gly186Ser) NC_000001.11:2408495:C:T p.(Gly186Ser) NC_000001.11:2408495:C:T Identity +NM_001363656.2:c.122T>G NP_001350585.1:p.Val41Gly NC_000019.10:52212961:T:G p.(Val41Gly) NC_000019.10:52212961:T:G p.(Val41Gly) NC_000019.10:52212961:T:G Identity +NM_000159.4:c.583G>A NP_000150.1:p.Ala195Thr NC_000019.10:12896068:G:A p.(Ala195Thr) NC_000019.10:12896068:G:A p.(Ala195Thr) NC_000019.10:12896068:G:A Identity +NM_000498.3:c.1034_1047del NP_000489.3:p.Leu345fs NC_000008.11:142913358:GGCTGCGGCGGCCAGGCT:GGCT p.(Leu345GlnfsTer4) NC_000008.11:142913358:GGCTGCGGCGGCCAGGCT:GGCT p.(Leu345GlnfsTer4) NC_000008.11:142913358:GGCTGCGGCGGCCA: Analogous +NM_001143850.3:c.1400G>T NP_001137322.1:p.Gly467Val NC_000012.12:123697095:G:T p.(Gly467Val) NC_000012.12:123697095:G:T p.(Gly467Val) NC_000012.12:123697095:G:T Identity +NM_001291860.2:c.8989G>A NP_001278789.1:p.Gly2997Ser NC_000001.11:21842304:C:T p.(Gly2997Ser) NC_000001.11:21842304:C:T p.(Gly2997Ser) NC_000001.11:21842304:C:T Identity +NM_001128602.2:c.2235G>C NP_001122074.1:p.Gln745His NC_000015.10:38490607:C:G p.(Gln745His) NC_000015.10:38490607:C:G p.(Gln745His) NC_000015.10:38490607:C:G Identity +NM_001318360.2:c.2351A>G NP_001305289.1:p.Tyr784Cys NC_000009.12:108896538:T:C p.(Tyr784Cys) NC_000009.12:108896538:T:C p.(Tyr784Cys) NC_000009.12:108896538:T:C Identity +NM_001378454.1:c.263T>C NP_001365383.1:p.Leu88Ser NC_000002.12:73386130:T:C p.(Leu88Ser) NC_000002.12:73386130:T:C p.(Leu88Ser) NC_000002.12:73386130:T:C Identity +NM_015512.5:c.9793C>T NP_056327.4:p.Arg3265Cys NC_000003.12:52391229:C:T p.(Arg3265Cys) NC_000003.12:52391229:C:T p.(Arg3265Cys) NC_000003.12:52391229:C:T Identity +NM_133459.4:c.500G>A NP_597716.1:p.Arg167Gln NC_000018.10:59466791:C:T p.(Arg167Gln) NC_000018.10:59466791:C:T p.(Arg167Gln) NC_000018.10:59466791:C:T Identity +NM_001289750.1:c.64G>A NP_001276679.1:p.Asp22Asn NC_000007.14:107904980:G:A p.(Asp22Asn) NC_000007.14:107904980:G:A p.(Asp22Asn) NC_000007.14:107904980:G:A Identity +NM_000147.5:c.919C>T NP_000138.2:p.Arg307Cys NC_000001.11:23854409:G:A p.(Arg307Cys) NC_000001.11:23854409:G:A p.(Arg307Cys) NC_000001.11:23854409:G:A Identity +NM_000059.4:c.4298G>T NP_000050.3:p.Gly1433Val NC_000013.11:32338652:G:T p.(Gly1433Val) NC_000013.11:32338652:G:T p.(Gly1433Val) NC_000013.11:32338652:G:T Identity +NM_000057.4:c.1922A>T NP_000048.1:p.His641Leu NC_000015.10:90763004:A:T p.(His641Leu) NC_000015.10:90763004:A:T p.(His641Leu) NC_000015.10:90763004:A:T Identity +NM_000088.4:c.1756A>G NP_000079.2:p.Lys586Glu NC_000017.11:50193953:T:C p.(Lys586Glu) NC_000017.11:50193953:T:C p.(Lys586Glu) NC_000017.11:50193953:T:C Identity +NM_001130442.3:c.285G>C NP_001123914.1:p.Gln95His NC_000011.10:533770:C:G p.(Gln95His) NC_000011.10:533770:C:G p.(Gln95His) NC_000011.10:533770:C:G Identity +NM_024577.4:c.100G>A NP_078853.2:p.Ala34Thr NC_000005.10:149052192:C:T p.(Ala34Thr) NC_000005.10:149052192:C:T p.(Ala34Thr) NC_000005.10:149052192:C:T Identity +NM_000080.4:c.1223C>G NP_000071.1:p.Ala408Gly NC_000017.11:4899103:G:C p.(Ala408Gly) NC_000017.11:4899103:G:C p.(Ala408Gly) NC_000017.11:4899103:G:C Identity +NM_002633.3:c.76G>A NP_002624.2:p.Val26Met NC_000001.11:63593563:G:A p.(Val26Met) NC_000001.11:63593563:G:A p.(Val26Met) NC_000001.11:63593563:G:A Identity +NM_001008844.3:c.4658G>T NP_001008844.1:p.Gly1553Val NC_000006.12:7583716:G:T p.(Gly1553Val) NC_000006.12:7583716:G:T p.(Gly1553Val) NC_000006.12:7583716:G:T Identity +NM_174916.3:c.4847C>T NP_777576.1:p.Ser1616Phe NC_000015.10:42952436:G:A p.(Ser1616Phe) NC_000015.10:42952436:G:A p.(Ser1616Phe) NC_000015.10:42952436:G:A Identity +NM_001290307.3:c.523A>G NP_001277236.1:p.Ile175Val NC_000005.10:138812236:A:G p.(Ile175Val) NC_000005.10:138812236:A:G p.(Ile175Val) NC_000005.10:138812236:A:G Identity +NM_001379500.1:c.2118del NP_001366429.1:p.Gly707fs NC_000021.9:45491268:CCCCCCC:CCCCCC p.(Gly707AspfsTer17) NC_000021.9:45491268:CCCCCCC:CCCCCC p.(Gly707AspfsTer17) NC_000021.9:45491274:C: Analogous +NM_004333.6:c.2078T>C NP_004324.2:p.Met693Thr NC_000007.14:140739860:A:G p.(Met693Thr) NC_000007.14:140739860:A:G p.(Met693Thr) NC_000007.14:140739860:A:G Identity +NM_000535.7:c.1541A>C NP_000526.2:p.His514Pro NC_000007.14:5987223:T:G p.(His514Pro) NC_000007.14:5987223:T:G p.(His514Pro) NC_000007.14:5987223:T:G Identity +NM_001320923.2:c.2779G>A NP_001307852.1:p.Glu927Lys NC_000001.11:64839665:C:T p.(Glu927Lys) NC_000001.11:64839665:C:T p.(Glu927Lys) NC_000001.11:64839665:C:T Identity +NM_198578.4:c.531G>C NP_940980.4:p.Gln177His NC_000012.12:40238062:G:C p.(Gln177His) NC_000012.12:40238062:G:C p.(Gln177His) NC_000012.12:40238062:G:C Identity +NM_001024688.3:c.606C>G NP_001019859.1:p.Asp202Glu NC_000008.11:89970407:G:C p.(Asp202Glu) NC_000008.11:89970407:G:C p.(Asp202Glu) NC_000008.11:89970407:G:C Identity +NM_001302946.2:c.1130del NP_001289875.2:p.Gly377fs NC_000003.12:3148036:GGG:GG p.(Gly377AlafsTer32) NC_000003.12:3148036:GGG:GG p.(Gly377AlafsTer32) NC_000003.12:3148038:G: Analogous +NM_001244189.2:c.2813A>G NP_001231118.1:p.Glu938Gly NC_000014.9:58474625:A:G p.(Glu938Gly) NC_000014.9:58474625:A:G p.(Glu938Gly) NC_000014.9:58474625:A:G Identity +NM_001037.5:c.622A>C NP_001028.1:p.Lys208Gln NC_000019.10:35039665:A:C p.(Lys208Gln) NC_000019.10:35039665:A:C p.(Lys208Gln) NC_000019.10:35039665:A:C Identity +NM_001164507.2:c.24271_24274dup NP_001157979.2:p.Lys8092fs NC_000002.12:151497651:TGACT:TGACTGACT p.(Lys8092SerfsTer9) NC_000002.12:151497651:TGACT:TGACTGACT p.(Lys8092SerfsTer9) ERR:SPDI Analogous +NM_014000.3:c.2887A>C NP_054706.1:p.Asn963His NC_000010.11:74112049:A:C p.(Asn963His) NC_000010.11:74112049:A:C p.(Asn963His) NC_000010.11:74112049:A:C Identity +NM_000257.4:c.4991A>G NP_000248.2:p.Asn1664Ser NC_000014.9:23415794:T:C p.(Asn1664Ser) NC_000014.9:23415794:T:C p.(Asn1664Ser) NC_000014.9:23415794:T:C Identity +NM_001440.4:c.838C>T NP_001431.1:p.Arg280Cys NC_000008.11:28716896:C:T p.(Arg280Cys) NC_000008.11:28716896:C:T p.(Arg280Cys) NC_000008.11:28716896:C:T Identity +NM_001048166.1:c.2676G>C NP_001041631.1:p.Gln892His NC_000001.11:47263055:C:G p.(Gln892His) NC_000001.11:47263055:C:G p.(Gln892His) NC_000001.11:47263055:C:G Identity +NM_004260.4:c.3449G>A NP_004251.4:p.Arg1150Lys NC_000008.11:144511733:C:T p.(Arg1150Lys) NC_000008.11:144511733:C:T p.(Arg1150Lys) NC_000008.11:144511733:C:T Identity +NM_015512.5:c.8782C>T NP_056327.4:p.Arg2928Cys NC_000003.12:52386315:C:T p.(Arg2928Cys) NC_000003.12:52386315:C:T p.(Arg2928Cys) NC_000003.12:52386315:C:T Identity +NM_001244926.2:c.638T>C NP_001231855.1:p.Leu213Pro NC_000009.12:113283465:T:C p.(Leu213Pro) NC_000009.12:113283465:T:C p.(Leu213Pro) NC_000009.12:113283465:T:C Identity +NM_006059.4:c.1202G>A NP_006050.3:p.Cys401Tyr NC_000009.12:131039166:G:A p.(Cys401Tyr) NC_000009.12:131039166:G:A p.(Cys401Tyr) NC_000009.12:131039166:G:A Identity +NM_001172574.2:c.1188C>G NP_001166045.2:p.His396Gln NC_000008.11:6444909:C:G p.(His396Gln) NC_000008.11:6444909:C:G p.(His396Gln) NC_000008.11:6444909:C:G Identity +NM_024675.4:c.2350A>C NP_078951.2:p.Lys784Gln NC_000016.10:23629803:T:G p.(Lys784Gln) NC_000016.10:23629803:T:G p.(Lys784Gln) NC_000016.10:23629803:T:G Identity +NM_000721.4:c.208T>C NP_000712.2:p.Phe70Leu NC_000001.11:181483951:T:C p.(Phe70Leu) NC_000001.11:181483951:T:C p.(Phe70Leu) NC_000001.11:181483951:T:C Identity +NM_001127178.3:c.1607C>T NP_001120650.1:p.Pro536Leu NC_000004.12:521933:C:T p.(Pro536Leu) NC_000004.12:521933:C:T p.(Pro536Leu) NC_000004.12:521933:C:T Identity +NM_001286414.3:c.41G>C NP_001273343.1:p.Gly14Ala NC_000015.10:43371394:G:C p.(Gly14Ala) NC_000015.10:43371394:G:C p.(Gly14Ala) NC_000015.10:43371394:G:C Identity +NM_005932.4:c.2092G>A NP_005923.3:p.Val698Ile NC_000013.11:23730397:C:T p.(Val698Ile) NC_000013.11:23730397:C:T p.(Val698Ile) NC_000013.11:23730397:C:T Identity +NM_000238.4:c.2743del NP_000229.1:p.Ala915fs NC_000007.14:150947827:CCCCC:CCCC p.(Ala915GlnfsTer59) NC_000007.14:150947827:CCCCC:CCCC p.(Ala915GlnfsTer59) NC_000007.14:150947827:C: Analogous +NM_001320923.2:c.1793A>G NP_001307852.1:p.Tyr598Cys NC_000001.11:64847637:T:C p.(Tyr598Cys) NC_000001.11:64847637:T:C p.(Tyr598Cys) NC_000001.11:64847637:T:C Identity +NM_000456.3:c.1312_1313del NP_000447.2:p.Val438fs NC_000012.12:56004699:TGT:T p.(Val438ArgfsTer36) NC_000012.12:56004699:TGT:T p.(Val438ArgfsTer36) NC_000012.12:56004700:GT: Analogous +NM_006059.4:c.1924G>A NP_006050.3:p.Gly642Ser NC_000009.12:131052949:G:A p.(Gly642Ser) NC_000009.12:131052949:G:A p.(Gly642Ser) NC_000009.12:131052949:G:A Identity +NM_003823.4:c.251A>T NP_003814.1:p.Tyr84Phe NC_000020.11:63697017:A:T p.(Tyr84Phe) NC_000020.11:63697017:A:T p.(Tyr84Phe) NC_000020.11:63697017:A:T Identity +NM_001943.5:c.2077G>A NP_001934.2:p.Glu693Lys NC_000018.10:31542594:G:A p.(Glu693Lys) NC_000018.10:31542594:G:A p.(Glu693Lys) NC_000018.10:31542594:G:A Identity +NM_001127198.5:c.680T>C NP_001120670.1:p.Leu227Pro NC_000017.11:78124734:A:G p.(Leu227Pro) NC_000017.11:78124734:A:G p.(Leu227Pro) NC_000017.11:78124734:A:G Identity +NM_001305275.2:c.4790G>T NP_001292204.1:p.Cys1597Phe NC_000001.11:1049947:G:T p.(Cys1597Phe) NC_000001.11:1049947:G:T p.(Cys1597Phe) NC_000001.11:1049947:G:T Identity +NM_001291411.2:c.1910G>T NP_001278340.2:p.Gly637Val NC_000021.9:33551140:G:T p.(Gly637Val) NC_000021.9:33551140:G:T p.(Gly637Val) NC_000021.9:33551140:G:T Identity +NM_001256850.1:c.7813del NP_001243779.1:p.Tyr2605fs NC_000002.12:178773150:AAAA:AAA p.(Tyr2605ThrfsTer6) NC_000002.12:178773150:AAAA:AAA p.(Tyr2605ThrfsTer6) NC_000002.12:178773150:A: Analogous +NM_001191028.3:c.1525C>T NP_001177957.2:p.Pro509Ser NC_000007.14:128984232:G:A p.(Pro509Ser) NC_000007.14:128984232:G:A p.(Pro509Ser) NC_000007.14:128984232:G:A Identity +NM_014467.3:c.1133T>C NP_055282.1:p.Ile378Thr NC_000023.11:100669284:T:C p.(Ile378Thr) NC_000023.11:100669284:T:C p.(Ile378Thr) NC_000023.11:100669284:T:C Identity +NM_000214.3:c.3561C>G NP_000205.1:p.Asn1187Lys NC_000020.11:10639593:G:C p.(Asn1187Lys) NC_000020.11:10639593:G:C p.(Asn1187Lys) NC_000020.11:10639593:G:C Identity +NM_031307.4:c.121A>C NP_112597.4:p.Ile41Leu NC_000011.10:125896163:T:G p.(Ile41Leu) NC_000011.10:125896163:T:G p.(Ile41Leu) NC_000011.10:125896163:T:G Identity +NM_001134830.2:c.286G>A NP_001128302.1:p.Val96Ile NC_000006.12:135466276:C:T p.(Val96Ile) NC_000006.12:135466276:C:T p.(Val96Ile) NC_000006.12:135466276:C:T Identity +NM_024685.4:c.1970C>T NP_078961.3:p.Thr657Ile NC_000012.12:76346014:G:A p.(Thr657Ile) NC_000012.12:76346014:G:A p.(Thr657Ile) NC_000012.12:76346014:G:A Identity +NM_001040108.2:c.281G>A NP_001035197.1:p.Gly94Glu NC_000014.9:75049374:C:T p.(Gly94Glu) NC_000014.9:75049374:C:T p.(Gly94Glu) NC_000014.9:75049374:C:T Identity +NM_001290307.3:c.202G>T NP_001277236.1:p.Ala68Ser NC_000005.10:138783272:G:T p.(Ala68Ser) NC_000005.10:138783272:G:T p.(Ala68Ser) NC_000005.10:138783272:G:T Identity +NM_018714.3:c.1462G>T NP_061184.1:p.Ala488Ser NC_000017.11:73201288:G:T p.(Ala488Ser) NC_000017.11:73201288:G:T p.(Ala488Ser) NC_000017.11:73201288:G:T Identity +NM_000111.3:c.1670T>C NP_000102.1:p.Ile557Thr NC_000007.14:107776458:A:G p.(Ile557Thr) NC_000007.14:107776458:A:G p.(Ile557Thr) NC_000007.14:107776458:A:G Identity +NM_001166292.2:c.266T>C NP_001159764.1:p.Val89Ala NC_000001.11:44832340:A:G p.(Val89Ala) NC_000001.11:44832340:A:G p.(Val89Ala) NC_000001.11:44832340:A:G Identity +NM_025114.4:c.5428A>G NP_079390.3:p.Asn1810Asp NC_000012.12:88077854:T:C p.(Asn1810Asp) NC_000012.12:88077854:T:C p.(Asn1810Asp) NC_000012.12:88077854:T:C Identity +NM_152383.5:c.2318T>C NP_689596.4:p.Met773Thr NC_000002.12:232334658:T:C p.(Met773Thr) NC_000002.12:232334658:T:C p.(Met773Thr) NC_000002.12:232334658:T:C Identity +NM_013432.5:c.4047G>T NP_038460.4:p.Arg1349Ser NC_000008.11:144429232:C:A p.(Arg1349Ser) NC_000008.11:144429232:C:A p.(Arg1349Ser) NC_000008.11:144429232:C:A Identity +NM_001143990.2:c.1138A>T NP_001137462.1:p.Asn380Tyr NC_000017.11:7702525:A:T p.(Asn380Tyr) NC_000017.11:7702525:A:T p.(Asn380Tyr) NC_000017.11:7702525:A:T Identity +NM_001257096.2:c.1358C>T NP_001244025.1:p.Pro453Leu NC_000020.11:21714545:C:T p.(Pro453Leu) NC_000020.11:21714545:C:T p.(Pro453Leu) NC_000020.11:21714545:C:T Identity +NM_001272003.2:c.997_998del NP_001258932.1:p.Val333fs NC_000009.12:135765121:TGTGTGT:TGTGT p.(Val333GlnfsTer117) NC_000009.12:135765121:TGTGTGT:TGTGT p.(Val333GlnfsTer117) NC_000009.12:135765126:GT: Analogous +NM_001258446.1:c.1303C>T NP_001245375.1:p.Gln435Ter NC_000008.11:143310173:G:A p.(Gln435Ter) NC_000008.11:143310173:G:A p.(Gln435Ter) NC_000008.11:143310173:G:A Identity +NM_001378761.1:c.3523G>A NP_001365690.1:p.Ala1175Thr NC_000011.10:121129835:G:A p.(Ala1175Thr) NC_000011.10:121129835:G:A p.(Ala1175Thr) NC_000011.10:121129835:G:A Identity +NM_022915.5:c.175C>T NP_075066.1:p.Arg59Cys NC_000002.12:223957646:C:T p.(Arg59Cys) NC_000002.12:223957646:C:T p.(Arg59Cys) NC_000002.12:223957646:C:T Identity +NM_007215.4:c.578A>G NP_009146.2:p.Tyr193Cys NC_000017.11:64493005:T:C p.(Tyr193Cys) NC_000017.11:64493005:T:C p.(Tyr193Cys) NC_000017.11:64493005:T:C Identity +NM_021076.4:c.2330C>T NP_066554.2:p.Pro777Leu NC_000022.11:29489969:C:T p.(Pro777Leu) NC_000022.11:29489969:C:T p.(Pro777Leu) NC_000022.11:29489969:C:T Identity +NM_024753.5:c.2416G>C NP_079029.3:p.Asp806His NC_000002.12:165911371:C:G p.(Asp806His) NC_000002.12:165911371:C:G p.(Asp806His) NC_000002.12:165911371:C:G Identity +NM_001290184.2:c.290G>A NP_001277113.1:p.Arg97Gln NC_000001.11:160349583:G:A p.(Arg97Gln) NC_000001.11:160349583:G:A p.(Arg97Gln) NC_000001.11:160349583:G:A Identity +NM_001317163.2:c.3586A>G NP_001304092.1:p.Ile1196Val NC_000009.12:120980172:T:C p.(Ile1196Val) NC_000009.12:120980172:T:C p.(Ile1196Val) NC_000009.12:120980172:T:C Identity +NM_019074.4:c.1132C>T NP_061947.1:p.Arg378Trp NC_000015.10:40935008:C:T p.(Arg378Trp) NC_000015.10:40935008:C:T p.(Arg378Trp) NC_000015.10:40935008:C:T Identity +NM_032444.4:c.2812G>C NP_115820.2:p.Ala938Pro NC_000016.10:3590825:C:G p.(Ala938Pro) NC_000016.10:3590825:C:G p.(Ala938Pro) NC_000016.10:3590825:C:G Identity +NM_001113178.3:c.2669A>C NP_001106649.1:p.Glu890Ala NC_000016.10:69692496:A:C p.(Glu890Ala) NC_000016.10:69692496:A:C p.(Glu890Ala) NC_000016.10:69692496:A:C Identity +NM_007254.4:c.20C>T NP_009185.2:p.Pro7Leu NC_000019.10:49867184:G:A p.(Pro7Leu) NC_000019.10:49867184:G:A p.(Pro7Leu) NC_000019.10:49867184:G:A Identity +NM_001040610.3:c.2330C>G NP_001035700.1:p.Pro777Arg NC_000015.10:82151970:G:C p.(Pro777Arg) NC_000015.10:82151970:G:C p.(Pro777Arg) NC_000015.10:82151970:G:C Identity +NM_003907.3:c.1150C>A NP_003898.2:p.His384Asn NC_000003.12:184140723:C:A p.(His384Asn) NC_000003.12:184140723:C:A p.(His384Asn) NC_000003.12:184140723:C:A Identity +NM_001257158.2:c.637G>A NP_001244087.1:p.Glu213Lys NC_000007.14:130401885:C:T p.(Glu213Lys) NC_000007.14:130401885:C:T p.(Glu213Lys) NC_000007.14:130401885:C:T Identity +NM_001164716.1:c.870C>A NP_001158188.1:p.His290Gln NC_000011.10:64753983:G:T p.(His290Gln) NC_000011.10:64753983:G:T p.(His290Gln) NC_000011.10:64753983:G:T Identity +NM_000368.5:c.1586C>T NP_000359.1:p.Ala529Val NC_000009.12:132905991:G:A p.(Ala529Val) NC_000009.12:132905991:G:A p.(Ala529Val) NC_000009.12:132905991:G:A Identity +NM_014510.3:c.4988G>A NP_055325.2:p.Gly1663Glu NC_000007.14:82955964:C:T p.(Gly1663Glu) NC_000007.14:82955964:C:T p.(Gly1663Glu) NC_000007.14:82955964:C:T Identity +NM_001378454.1:c.341G>T NP_001365383.1:p.Cys114Phe NC_000002.12:73408637:G:T p.(Cys114Phe) NC_000002.12:73408637:G:T p.(Cys114Phe) NC_000002.12:73408637:G:T Identity +NM_001286414.3:c.1192C>T NP_001273343.1:p.Gln398Ter NC_000015.10:43397233:C:T p.(Gln398Ter) NC_000015.10:43397233:C:T p.(Gln398Ter) NC_000015.10:43397233:C:T Identity +NM_000126.4:c.427dup NP_000117.1:p.Thr143fs NC_000015.10:76287869:T:TT p.(Thr143AsnfsTer18) NC_000015.10:76287869:T:TT p.(Thr143AsnfsTer18) ERR:SPDI Analogous +NM_004565.3:c.648T>G NP_004556.1:p.Ile216Met NC_000001.11:10627333:T:G p.(Ile216Met) NC_000001.11:10627333:T:G p.(Ile216Met) NC_000001.11:10627333:T:G Identity +NM_000492.4:c.2531C>T NP_000483.3:p.Thr844Ile NC_000007.14:117594969:C:T p.(Thr844Ile) NC_000007.14:117594969:C:T p.(Thr844Ile) NC_000007.14:117594969:C:T Identity +NM_025099.6:c.1219C>A NP_079375.3:p.His407Asn NC_000017.11:8235272:G:T p.(His407Asn) NC_000017.11:8235272:G:T p.(His407Asn) NC_000017.11:8235272:G:T Identity +NM_001195286.2:c.568C>T NP_001182215.1:p.Pro190Ser NC_000006.12:397185:C:T p.(Pro190Ser) NC_000006.12:397185:C:T p.(Pro190Ser) NC_000006.12:397185:C:T Identity +NM_206933.4:c.9248A>T NP_996816.3:p.Tyr3083Phe NC_000001.11:215844303:T:A p.(Tyr3083Phe) NC_000001.11:215844303:T:A p.(Tyr3083Phe) NC_000001.11:215844303:T:A Identity +NM_001293306.2:c.5062A>G NP_001280235.2:p.Arg1688Gly NC_000003.12:38698154:T:C p.(Arg1688Gly) NC_000003.12:38698154:T:C p.(Arg1688Gly) NC_000003.12:38698154:T:C Identity +NM_001288951.2:c.650C>A NP_001275880.1:p.Thr217Asn NC_000002.12:46978792:C:A p.(Thr217Asn) NC_000002.12:46978792:C:A p.(Thr217Asn) NC_000002.12:46978792:C:A Identity +NM_000051.4:c.5193AGC[1] NP_000042.3:p.Ala1733del NC_000011.10:108301661:CAGCAGC:CAGC p.(Ala1733del) NC_000011.10:108301662:A:AGC ERR:Parse ERR:Parse Identity +NM_001039885.3:c.994G>A NP_001034974.1:p.Val332Met NC_000019.10:46756443:G:A p.(Val332Met) NC_000019.10:46756443:G:A p.(Val332Met) NC_000019.10:46756443:G:A Identity +NM_005677.4:c.1085T>C NP_005668.2:p.Phe362Ser NC_000003.12:15456008:A:G p.(Phe362Ser) NC_000003.12:15456008:A:G p.(Phe362Ser) NC_000003.12:15456008:A:G Identity +NM_000287.4:c.1982A>C NP_000278.3:p.Glu661Ala NC_000006.12:42966636:T:G p.(Glu661Ala) NC_000006.12:42966636:T:G p.(Glu661Ala) NC_000006.12:42966636:T:G Identity +NM_003801.4:c.845G>A NP_003792.1:p.Gly282Glu NC_000008.11:144084443:G:A p.(Gly282Glu) NC_000008.11:144084443:G:A p.(Gly282Glu) NC_000008.11:144084443:G:A Identity +NM_001142800.2:c.3835A>G NP_001136272.1:p.Thr1279Ala NC_000006.12:64593158:T:C p.(Thr1279Ala) NC_000006.12:64593158:T:C p.(Thr1279Ala) NC_000006.12:64593158:T:C Identity +NM_001256876.3:c.3880G>A NP_001243805.1:p.Gly1294Ser NC_000009.12:742387:G:A p.(Gly1294Ser) NC_000009.12:742387:G:A p.(Gly1294Ser) NC_000009.12:742387:G:A Identity +NM_015657.4:c.865A>G NP_056472.2:p.Thr289Ala NC_000002.12:215015626:T:C p.(Thr289Ala) NC_000002.12:215015626:T:C p.(Thr289Ala) NC_000002.12:215015626:T:C Identity +NM_001128844.3:c.2008G>C NP_001122316.1:p.Glu670Gln NC_000019.10:11007907:G:C p.(Glu670Gln) NC_000019.10:11007907:G:C p.(Glu670Gln) NC_000019.10:11007907:G:C Identity +NM_001317335.2:c.406G>A NP_001304264.1:p.Ala136Thr NC_000019.10:861725:G:A p.(Ala136Thr) NC_000019.10:861725:G:A p.(Ala136Thr) NC_000019.10:861725:G:A Identity +NM_014908.4:c.374del NP_055723.1:p.Ser125fs NC_000009.12:128946929:G: p.(Ser125TyrfsTer31) NC_000009.12:128946929:G: p.(Ser125TyrfsTer31) NC_000009.12:128946929:G: Analogous +NM_001127897.4:c.2715del NP_001121369.1:p.Pro906fs NC_000016.10:53641443:A: p.(Pro906LeufsTer9) NC_000016.10:53641443:A: p.(Pro906LeufsTer9) NC_000016.10:53641443:A: Analogous +NM_000532.5:c.758T>C NP_000523.2:p.Met253Thr NC_000003.12:136293858:T:C p.(Met253Thr) NC_000003.12:136293858:T:C p.(Met253Thr) NC_000003.12:136293858:T:C Identity +NM_001127396.3:c.1244G>A NP_001120868.1:p.Ser415Asn NC_000019.10:7645202:G:A p.(Ser415Asn) NC_000019.10:7645202:G:A p.(Ser415Asn) NC_000019.10:7645202:G:A Identity +NM_003280.3:c.354G>T NP_003271.1:p.Lys118Asn NC_000003.12:52451490:C:A p.(Lys118Asn) NC_000003.12:52451490:C:A p.(Lys118Asn) NC_000003.12:52451490:C:A Identity +NM_001112808.3:c.723del NP_001106279.3:p.Ile241fs NC_000001.11:74271682:TT:T p.(Ile241MetfsTer4) NC_000001.11:74271682:TT:T p.(Ile241MetfsTer4) NC_000001.11:74271683:T: Analogous +NM_014639.4:c.2846C>T NP_055454.1:p.Thr949Ile NC_000005.10:95512550:G:A p.(Thr949Ile) NC_000005.10:95512550:G:A p.(Thr949Ile) NC_000005.10:95512550:G:A Identity +NM_006231.4:c.89C>A NP_006222.2:p.Ser30Ter NC_000012.12:132681252:G:T p.(Ser30Ter) NC_000012.12:132681252:G:T p.(Ser30Ter) NC_000012.12:132681252:G:T Identity +NM_006269.2:c.2071G>T NP_006260.1:p.Ala691Ser NC_000008.11:54625952:G:T p.(Ala691Ser) NC_000008.11:54625952:G:T p.(Ala691Ser) NC_000008.11:54625952:G:T Identity +NM_033026.6:c.15400C>G NP_149015.2:p.Leu5134Val NC_000007.14:82758603:G:C p.(Leu5134Val) NC_000007.14:82758603:G:C p.(Leu5134Val) NC_000007.14:82758603:G:C Identity +NM_001244008.2:c.3924G>C NP_001230937.1:p.Glu1308Asp NC_000002.12:240737145:C:G p.(Glu1308Asp) NC_000002.12:240737145:C:G p.(Glu1308Asp) NC_000002.12:240737145:C:G Identity +NM_001258206.2:c.1019T>C NP_001245135.1:p.Leu340Pro NC_000019.10:6828166:T:C p.(Leu340Pro) NC_000019.10:6828166:T:C p.(Leu340Pro) NC_000019.10:6828166:T:C Identity +NM_001085487.3:c.1087G>C NP_001078956.1:p.Val363Leu NC_000001.11:58681956:C:G p.(Val363Leu) NC_000001.11:58681956:C:G p.(Val363Leu) NC_000001.11:58681956:C:G Identity +NM_000548.5:c.517T>G NP_000539.2:p.Ser173Ala NC_000016.10:2055436:T:G p.(Ser173Ala) NC_000016.10:2055436:T:G p.(Ser173Ala) NC_000016.10:2055436:T:G Identity +NM_001376.5:c.13327A>C NP_001367.2:p.Lys4443Gln NC_000014.9:102048623:A:C p.(Lys4443Gln) NC_000014.9:102048623:A:C p.(Lys4443Gln) NC_000014.9:102048623:A:C Identity +NM_032806.6:c.364G>T NP_116195.2:p.Val122Leu NC_000003.12:43081067:C:A p.(Val122Leu) NC_000003.12:43081067:C:A p.(Val122Leu) NC_000003.12:43081067:C:A Identity +LRG_836t1:c.1855C>G LRG_836p1:p.Pro619Ala NC_000004.12:106212754:G:C ERR:Data provider error: ValueError: Transcript LRG_836t1 not found ERR:Data provider error: ValueError: Transcript LRG_836t1 not found ERR:AlignmentMapper(tx_ac=LRG_836t1, alt_ac=LRG_836t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_836t1, alt_ac=LRG_836t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_836t1 not found +NM_001277764.2:c.458G>A NP_001264693.1:p.Arg153His NC_000015.10:90231364:C:T p.(Arg153His) NC_000015.10:90231364:C:T p.(Arg153His) NC_000015.10:90231364:C:T Identity +NM_001318245.2:c.6437G>A NP_001305174.1:p.Arg2146Gln NC_000022.11:26004818:G:A p.(Arg2146Gln) NC_000022.11:26004818:G:A p.(Arg2146Gln) NC_000022.11:26004818:G:A Identity +NM_020461.4:c.3166G>A NP_065194.3:p.Val1056Met NC_000022.11:50221192:C:T p.(Val1056Met) NC_000022.11:50221192:C:T p.(Val1056Met) NC_000022.11:50221192:C:T Identity +NM_152617.4:c.880A>G NP_689830.2:p.Ile294Val NC_000003.12:196472654:T:C p.(Ile294Val) NC_000003.12:196472654:T:C p.(Ile294Val) NC_000003.12:196472654:T:C Identity +NM_000143.4:c.1172A>G NP_000134.2:p.His391Arg NC_000001.11:241502506:T:C p.(His391Arg) NC_000001.11:241502506:T:C p.(His391Arg) NC_000001.11:241502506:T:C Identity +NM_030928.4:c.291G>C NP_112190.2:p.Lys97Asn NC_000016.10:88804606:G:C p.(Lys97Asn) NC_000016.10:88804606:G:C p.(Lys97Asn) NC_000016.10:88804606:G:C Identity +NM_001024218.2:c.1201C>G NP_001019389.1:p.Gln401Glu NC_000014.9:67110145:C:G p.(Gln401Glu) NC_000014.9:67110145:C:G p.(Gln401Glu) NC_000014.9:67110145:C:G Identity +NM_001193640.2:c.14A>G NP_001180569.1:p.Asn5Ser NC_000001.11:197268425:A:G p.(Asn5Ser) NC_000001.11:197268425:A:G p.(Asn5Ser) NC_000001.11:197268425:A:G Identity +NM_001135.4:c.1807G>A NP_001126.3:p.Ala603Thr NC_000015.10:88849511:G:A p.(Ala603Thr) NC_000015.10:88849511:G:A p.(Ala603Thr) NC_000015.10:88849511:G:A Identity +NM_000520.6:c.325A>T NP_000511.2:p.Thr109Ser NC_000015.10:72356545:T:A p.(Thr109Ser) NC_000015.10:72356545:T:A p.(Thr109Ser) NC_000015.10:72356545:T:A Identity +NM_005744.5:c.753T>A NP_005735.2:p.Asp251Glu NC_000015.10:72561497:T:A p.(Asp251Glu) NC_000015.10:72561497:T:A p.(Asp251Glu) NC_000015.10:72561497:T:A Identity +NM_001206846.2:c.403A>G NP_001193775.1:p.Ile135Val NC_000001.11:197143994:T:C p.(Ile135Val) NC_000001.11:197143994:T:C p.(Ile135Val) NC_000001.11:197143994:T:C Identity +NM_004798.4:c.1565A>G NP_004789.1:p.Glu522Gly NC_000020.11:32316584:A:G p.(Glu522Gly) NC_000020.11:32316584:A:G p.(Glu522Gly) NC_000020.11:32316584:A:G Identity +NM_001347721.2:c.488A>G NP_001334650.1:p.Gln163Arg NC_000021.9:37480824:A:G p.(Gln163Arg) NC_000021.9:37480824:A:G p.(Gln163Arg) NC_000021.9:37480824:A:G Identity +NM_014003.4:c.3076A>G NP_054722.2:p.Ile1026Val NC_000016.10:72108337:A:G p.(Ile1026Val) NC_000016.10:72108337:A:G p.(Ile1026Val) NC_000016.10:72108337:A:G Identity +NM_001134830.2:c.2005A>G NP_001128302.1:p.Ile669Val NC_000006.12:135438405:T:C p.(Ile669Val) NC_000006.12:135438405:T:C p.(Ile669Val) NC_000006.12:135438405:T:C Identity +NM_001135041.3:c.16C>A NP_001128513.1:p.Pro6Thr NC_000002.12:74374336:G:T p.(Pro6Thr) NC_000002.12:74374336:G:T p.(Pro6Thr) NC_000002.12:74374336:G:T Identity +NM_001308133.2:c.5369A>G NP_001295062.1:p.Lys1790Arg NC_000014.9:45196277:A:G p.(Lys1790Arg) NC_000014.9:45196277:A:G p.(Lys1790Arg) NC_000014.9:45196277:A:G Identity +NM_001256850.1:c.98129C>T NP_001243779.1:p.Thr32710Ile NC_000002.12:178533562:G:A p.(Thr32710Ile) NC_000002.12:178533562:G:A p.(Thr32710Ile) NC_000002.12:178533562:G:A Identity +NM_001365999.1:c.8811dup NP_001352928.1:p.Ser2938fs NC_000001.11:43443776:CCCCCC:CCCCCCC p.(Ser2938LeufsTer27) NC_000001.11:43443776:CCCCCC:CCCCCCC p.(Ser2938LeufsTer27) ERR:SPDI Analogous +NM_001367904.1:c.979G>A NP_001354833.1:p.Gly327Ser NC_000011.10:117521363:C:T p.(Gly327Ser) NC_000011.10:117521363:C:T p.(Gly327Ser) NC_000011.10:117521363:C:T Identity +NM_001005407.2:c.6239C>G NP_001005407.1:p.Pro2080Arg NC_000016.10:1220188:C:G p.(Pro2080Arg) NC_000016.10:1220188:C:G p.(Pro2080Arg) NC_000016.10:1220188:C:G Identity +NM_015164.4:c.14A>T NP_055979.2:p.Glu5Val NC_000001.11:15684571:A:T p.(Glu5Val) NC_000001.11:15684571:A:T p.(Glu5Val) NC_000001.11:15684571:A:T Identity +NM_001277115.2:c.7535C>A NP_001264044.1:p.Ala2512Glu NC_000007.14:21735733:C:A p.(Ala2512Glu) NC_000007.14:21735733:C:A p.(Ala2512Glu) NC_000007.14:21735733:C:A Identity +NM_001195573.1:c.4553_4554del NP_001182502.1:p.Val1518fs NC_000014.9:95096365:AA: p.(Val1518GlyfsTer4) NC_000014.9:95096365:AA: p.(Val1518GlyfsTer4) NC_000014.9:95096365:AA: Analogous +NM_024334.3:c.331C>G NP_077310.1:p.Pro111Ala NC_000003.12:14131612:C:G p.(Pro111Ala) NC_000003.12:14131612:C:G p.(Pro111Ala) NC_000003.12:14131612:C:G Identity +LRG_292t1:c.1705del LRG_292p1:p.Asn569Thrfs NC_000017.11:43093824:TT:T ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001160036.2:c.1073G>A NP_001153508.1:p.Arg358Gln NC_000008.11:23007251:G:A p.(Arg358Gln) NC_000008.11:23007251:G:A p.(Arg358Gln) NC_000008.11:23007251:G:A Identity +NM_001042544.1:c.957G>A NP_001036009.1:p.Trp319Ter NC_000019.10:40605793:G:A p.(Trp319Ter) NC_000019.10:40605793:G:A p.(Trp319Ter) NC_000019.10:40605793:G:A Identity +NM_000122.2:c.383G>T NP_000113.1:p.Ser128Ile NC_000002.12:127292697:C:A p.(Ser128Ile) NC_000002.12:127292697:C:A p.(Ser128Ile) NC_000002.12:127292697:C:A Identity +NM_001304482.2:c.2327C>T NP_001291411.1:p.Thr776Ile NC_000003.12:47410502:C:T p.(Thr776Ile) NC_000003.12:47410502:C:T p.(Thr776Ile) NC_000003.12:47410502:C:T Identity +NM_000081.4:c.3518C>T NP_000072.2:p.Ser1173Leu NC_000001.11:235804540:G:A p.(Ser1173Leu) NC_000001.11:235804540:G:A p.(Ser1173Leu) NC_000001.11:235804540:G:A Identity +NM_001271427.2:c.797T>G NP_001258356.1:p.Leu266Ter NC_000001.11:19239974:A:C p.(Leu266Ter) NC_000001.11:19239974:A:C p.(Leu266Ter) NC_000001.11:19239974:A:C Identity +NM_015450.3:c.278C>T NP_056265.2:p.Thr93Ile NC_000007.14:124863617:G:A p.(Thr93Ile) NC_000007.14:124863617:G:A p.(Thr93Ile) NC_000007.14:124863617:G:A Identity +NM_001369404.1:c.274C>T NP_001356333.1:p.Pro92Ser NC_000011.10:19185016:G:A p.(Pro92Ser) NC_000011.10:19185016:G:A p.(Pro92Ser) NC_000011.10:19185016:G:A Identity +NM_001130066.2:c.48G>A NP_001123538.1:p.Met16Ile NC_000006.12:33420311:G:A p.(Met16Ile) NC_000006.12:33420311:G:A p.(Met16Ile) NC_000006.12:33420311:G:A Identity +NM_030665.4:c.226_228del NP_109590.3:p.Asp76del NC_000017.11:17793172:CGAC:C p.(Asp76del) NC_000017.11:17793172:CGAC:C p.(Asp76del) NC_000017.11:17793173:GAC: Identity +NM_001044385.3:c.205A>T NP_001037850.1:p.Thr69Ser NC_000002.12:201636816:T:A p.(Thr69Ser) NC_000002.12:201636816:T:A p.(Thr69Ser) NC_000002.12:201636816:T:A Identity +NM_001407629.1:c.3863C>T NP_001394558.1:p.Thr1288Ile NC_000017.11:43091664:G:A p.(Thr1288Ile) NC_000017.11:43091664:G:A p.(Thr1288Ile) NC_000017.11:43091664:G:A Identity +NM_001365819.1:c.4328T>C NP_001352748.1:p.Phe1443Ser NC_000022.11:50455374:A:G p.(Phe1443Ser) NC_000022.11:50455374:A:G p.(Phe1443Ser) NC_000022.11:50455374:A:G Identity +NM_001081677.2:c.5389C>T NP_001075146.1:p.Arg1797Trp NC_000002.12:165090616:G:A p.(Arg1797Trp) NC_000002.12:165090616:G:A p.(Arg1797Trp) NC_000002.12:165090616:G:A Identity +NM_152468.5:c.1418A>C NP_689681.2:p.Lys473Thr NC_000017.11:78138072:A:C p.(Lys473Thr) NC_000017.11:78138072:A:C p.(Lys473Thr) NC_000017.11:78138072:A:C Identity +NM_002439.5:c.557C>G NP_002430.3:p.Ser186Trp NC_000005.10:80665340:C:G p.(Ser186Trp) NC_000005.10:80665340:C:G p.(Ser186Trp) NC_000005.10:80665340:C:G Identity +NM_001127617.2:c.220A>C NP_001121089.1:p.Ile74Leu NC_000016.10:30067556:A:C p.(Ile74Leu) NC_000016.10:30067556:A:C p.(Ile74Leu) NC_000016.10:30067556:A:C Identity +NM_000088.4:c.2530dup NP_000079.2:p.Ala844fs NC_000017.11:50190029:C:CC p.(Ala844GlyfsTer12) NC_000017.11:50190029:C:CC p.(Ala844GlyfsTer12) ERR:SPDI Analogous +NM_001130991.3:c.2672T>C NP_001124463.1:p.Ile891Thr NC_000011.10:119046725:A:G p.(Ile891Thr) NC_000011.10:119046725:A:G p.(Ile891Thr) NC_000011.10:119046725:A:G Identity +NM_001367562.3:c.764C>T NP_001354491.2:p.Ala255Val NC_000007.14:75982264:C:T p.(Ala255Val) NC_000007.14:75982264:C:T p.(Ala255Val) NC_000007.14:75982264:C:T Identity +NM_006929.5:c.2162G>A NP_008860.4:p.Gly721Asp NC_000006.12:31965972:G:A p.(Gly721Asp) NC_000006.12:31965972:G:A p.(Gly721Asp) NC_000006.12:31965972:G:A Identity +NM_001197104.2:c.1592A>G NP_001184033.1:p.Tyr531Cys NC_000011.10:118472750:A:G p.(Tyr531Cys) NC_000011.10:118472750:A:G p.(Tyr531Cys) NC_000011.10:118472750:A:G Identity +NM_001302959.2:c.88C>T NP_001289888.1:p.Leu30Phe NC_000011.10:67487170:C:T p.(Leu30Phe) NC_000011.10:67487170:C:T p.(Leu30Phe) NC_000011.10:67487170:C:T Identity +NM_001018037.2:c.3796C>T NP_001018047.1:p.Gln1266Ter NC_000009.12:77303014:C:T p.(Gln1266Ter) NC_000009.12:77303014:C:T p.(Gln1266Ter) NC_000009.12:77303014:C:T Identity +NM_001287424.2:c.332A>T NP_001274353.1:p.Glu111Val NC_000019.10:33302187:T:A p.(Glu111Val) NC_000019.10:33302187:T:A p.(Glu111Val) NC_000019.10:33302187:T:A Identity +NM_020964.3:c.20C>T NP_066015.2:p.Pro7Leu NC_000018.10:45967219:G:A p.(Pro7Leu) NC_000018.10:45967219:G:A p.(Pro7Leu) NC_000018.10:45967219:G:A Identity +NM_020699.4:c.47G>A NP_065750.1:p.Arg16Gln NC_000001.11:153828300:C:T p.(Arg16Gln) NC_000001.11:153828300:C:T p.(Arg16Gln) NC_000001.11:153828300:C:T Identity +NM_001354663.2:c.1621C>T NP_001341592.1:p.Gln541Ter NC_000003.12:193655003:C:T p.(Gln541Ter) NC_000003.12:193655003:C:T p.(Gln541Ter) NC_000003.12:193655003:C:T Identity +NM_020461.4:c.4919C>T NP_065194.3:p.Ala1640Val NC_000022.11:50218522:G:A p.(Ala1640Val) NC_000022.11:50218522:G:A p.(Ala1640Val) NC_000022.11:50218522:G:A Identity +NM_001252043.2:c.94C>T NP_001238972.1:p.Arg32Trp NC_000016.10:29977865:C:T p.(Arg32Trp) NC_000016.10:29977865:C:T p.(Arg32Trp) NC_000016.10:29977865:C:T Identity +NM_000108.5:c.1245_1249del NP_000099.2:p.Tyr416fs NC_000007.14:107917930:AGTACA:A p.(Tyr416SerfsTer9) NC_000007.14:107917930:AGTACA:A p.(Tyr416SerfsTer9) NC_000007.14:107917931:GTACA: Analogous +NM_006393.3:c.1879A>G NP_006384.1:p.Lys627Glu NC_000010.11:20823290:T:C p.(Lys627Glu) NC_000010.11:20823290:T:C p.(Lys627Glu) NC_000010.11:20823290:T:C Identity +NM_001723.7:c.7094T>C NP_001714.1:p.Ile2365Thr NC_000006.12:56616372:A:G p.(Ile2365Thr) NC_000006.12:56616372:A:G p.(Ile2365Thr) NC_000006.12:56616372:A:G Identity +NM_002907.4:c.494G>A NP_002898.2:p.Ser165Asn NC_000012.12:21486485:C:T p.(Ser165Asn) NC_000012.12:21486485:C:T p.(Ser165Asn) NC_000012.12:21486485:C:T Identity +NM_025114.4:c.5010A>C NP_079390.3:p.Leu1670Phe NC_000012.12:88083032:T:G p.(Leu1670Phe) NC_000012.12:88083032:T:G p.(Leu1670Phe) NC_000012.12:88083032:T:G Identity +NM_001358529.2:c.1127C>T NP_001345458.1:p.Ser376Phe NC_000006.12:39907092:G:A p.(Ser376Phe) NC_000006.12:39907092:G:A p.(Ser376Phe) NC_000006.12:39907092:G:A Identity +NM_001256864.2:c.1852C>T NP_001243793.1:p.Arg618Cys NC_000001.11:65392813:C:T p.(Arg618Cys) NC_000001.11:65392813:C:T p.(Arg618Cys) NC_000001.11:65392813:C:T Identity +NM_001285829.2:c.416C>G NP_001272758.1:p.Ala139Gly NC_000019.10:33301641:G:C p.(Ala139Gly) NC_000019.10:33301641:G:C p.(Ala139Gly) NC_000019.10:33301641:G:C Identity +NM_002035.4:c.739C>G NP_002026.1:p.Pro247Ala NC_000018.10:63338837:G:C p.(Pro247Ala) NC_000018.10:63338837:G:C p.(Pro247Ala) NC_000018.10:63338837:G:C Identity +NM_000256.3:c.178G>T NP_000247.2:p.Glu60Ter NC_000011.10:47351352:C:A p.(Glu60Ter) NC_000011.10:47351352:C:A p.(Glu60Ter) NC_000011.10:47351352:C:A Identity +NM_001379500.1:c.3326_3328del NP_001366429.1:p.Pro1109del NC_000021.9:45509429:CCCCC:CC p.(Pro1109del) NC_000021.9:45509429:CCCCC:CC p.(Pro1109del) NC_000021.9:45509431:CCC: Identity +NM_014510.3:c.9622G>A NP_055325.2:p.Asp3208Asn NC_000007.14:82950965:C:T p.(Asp3208Asn) NC_000007.14:82950965:C:T p.(Asp3208Asn) NC_000007.14:82950965:C:T Identity +NM_002788.4:c.442C>G NP_002779.1:p.Gln148Glu NC_000014.9:58260984:C:G p.(Gln148Glu) NC_000014.9:58260984:C:G p.(Gln148Glu) NC_000014.9:58260984:C:G Identity +NM_025099.6:c.1585C>T NP_079375.3:p.Leu529Phe NC_000017.11:8234780:G:A p.(Leu529Phe) NC_000017.11:8234780:G:A p.(Leu529Phe) NC_000017.11:8234780:G:A Identity +NM_012327.6:c.108T>A NP_036459.1:p.Phe36Leu NC_000018.10:62161245:A:T p.(Phe36Leu) NC_000018.10:62161245:A:T p.(Phe36Leu) NC_000018.10:62161245:A:T Identity +NM_014510.3:c.8591T>C NP_055325.2:p.Val2864Ala NC_000007.14:82952361:A:G p.(Val2864Ala) NC_000007.14:82952361:A:G p.(Val2864Ala) NC_000007.14:82952361:A:G Identity +NM_001377456.1:c.1583A>G NP_001364385.1:p.Asn528Ser NC_000016.10:56498512:T:C p.(Asn528Ser) NC_000016.10:56498512:T:C p.(Asn528Ser) NC_000016.10:56498512:T:C Identity +NM_000086.2:c.146A>G NP_000077.1:p.Asn49Ser NC_000016.10:28489365:T:C p.(Asn49Ser) NC_000016.10:28489365:T:C p.(Asn49Ser) NC_000016.10:28489365:T:C Identity +NM_001032282.4:c.371A>G NP_001027453.1:p.Lys124Arg NC_000008.11:102651927:T:C p.(Lys124Arg) NC_000008.11:102651927:T:C p.(Lys124Arg) NC_000008.11:102651927:T:C Identity +NM_001304482.2:c.3438C>G NP_001291411.1:p.Asp1146Glu NC_000003.12:47411613:C:G p.(Asp1146Glu) NC_000003.12:47411613:C:G p.(Asp1146Glu) NC_000003.12:47411613:C:G Identity +NM_001083961.2:c.704C>T NP_001077430.1:p.Thr235Met NC_000019.10:36067831:C:T p.(Thr235Met) NC_000019.10:36067831:C:T p.(Thr235Met) NC_000019.10:36067831:C:T Identity +NM_001440.4:c.896C>T NP_001431.1:p.Ala299Val NC_000008.11:28716954:C:T p.(Ala299Val) NC_000008.11:28716954:C:T p.(Ala299Val) NC_000008.11:28716954:C:T Identity +NM_001166280.2:c.1874C>G NP_001159752.1:p.Ala625Gly NC_000009.12:110800509:C:G p.(Ala625Gly) NC_000009.12:110800509:C:G p.(Ala625Gly) NC_000009.12:110800509:C:G Identity +NM_014053.4:c.1631_1632delinsTT NP_054772.1:p.Thr544Ile NC_000001.11:212895252:CG:TT p.(Thr544Ile) NC_000001.11:212895252:CG:TT p.(Thr544Ile) NC_000001.11:212895252:CG:TT Identity +NM_000249.4:c.1912G>C NP_000240.1:p.Gly638Arg NC_000003.12:37048531:G:C p.(Gly638Arg) NC_000003.12:37048531:G:C p.(Gly638Arg) NC_000003.12:37048531:G:C Identity +NM_001031689.3:c.905A>T NP_001026859.1:p.Asp302Val NC_000009.12:26923311:T:A p.(Asp302Val) NC_000009.12:26923311:T:A p.(Asp302Val) NC_000009.12:26923311:T:A Identity +NM_001174063.2:c.1114C>T NP_001167534.1:p.Pro372Ser NC_000008.11:38419702:G:A p.(Pro372Ser) NC_000008.11:38419702:G:A p.(Pro372Ser) NC_000008.11:38419702:G:A Identity +NM_001143990.2:c.1039C>T NP_001137462.1:p.Arg347Cys NC_000017.11:7702426:C:T p.(Arg347Cys) NC_000017.11:7702426:C:T p.(Arg347Cys) NC_000017.11:7702426:C:T Identity +NM_007055.4:c.3068T>G NP_008986.2:p.Met1023Arg NC_000010.11:77985905:A:C p.(Met1023Arg) NC_000010.11:77985905:A:C p.(Met1023Arg) NC_000010.11:77985905:A:C Identity +NM_001164405.2:c.292G>A NP_001157877.1:p.Gly98Ser NC_000017.11:1270854:G:A p.(Gly98Ser) NC_000017.11:1270854:G:A p.(Gly98Ser) NC_000017.11:1270854:G:A Identity +NM_000179.3:c.1979A>C NP_000170.1:p.Lys660Thr NC_000002.12:47799961:A:C p.(Lys660Thr) NC_000002.12:47799961:A:C p.(Lys660Thr) NC_000002.12:47799961:A:C Identity +NM_001844.5:c.3216_3234dup NP_001835.3:p.Ala1079fs NC_000012.12:47977358:GGGGCCAGGGGAGCCAGGGGG:GGGGCCAGGGGAGCCAGGGGGGGCCAGGGGAGCCAGGGGG p.(Ala1079ProfsTer45) NC_000012.12:47977358:GGGGCCAGGGGAGCCAGGGGG:GGGGCCAGGGGAGCCAGGGGGGGCCAGGGGAGCCAGGGGG p.(Ala1079ProfsTer45) ERR:SPDI Analogous +NM_001035.3:c.9215T>C NP_001026.2:p.Met3072Thr NC_000001.11:237700314:T:C p.(Met3072Thr) NC_000001.11:237700314:T:C p.(Met3072Thr) NC_000001.11:237700314:T:C Identity +NM_001164317.2:c.3593C>T NP_001157789.1:p.Thr1198Met NC_000003.12:58123558:C:T p.(Thr1198Met) NC_000003.12:58123558:C:T p.(Thr1198Met) NC_000003.12:58123558:C:T Identity +NM_032043.3:c.1366C>A NP_114432.2:p.Leu456Ile NC_000017.11:61793703:G:T p.(Leu456Ile) NC_000017.11:61793703:G:T p.(Leu456Ile) NC_000017.11:61793703:G:T Identity +NM_001172417.1:c.581T>C NP_001165888.1:p.Met194Thr NC_000002.12:232768452:A:G p.(Met194Thr) NC_000002.12:232768452:A:G p.(Met194Thr) NC_000002.12:232768452:A:G Identity +NM_001379141.1:c.3601A>G NP_001366070.1:p.Ser1201Gly NC_000018.10:44952940:A:G p.(Ser1201Gly) NC_000018.10:44952940:A:G p.(Ser1201Gly) NC_000018.10:44952940:A:G Identity +NM_000071.3:c.626G>A NP_000062.1:p.Arg209Gln NC_000021.9:43065426:C:T p.(Arg209Gln) NC_000021.9:43065426:C:T p.(Arg209Gln) NC_000021.9:43065426:C:T Identity +NM_001317163.2:c.848A>G NP_001304092.1:p.Asp283Gly NC_000009.12:121027202:T:C p.(Asp283Gly) NC_000009.12:121027202:T:C p.(Asp283Gly) NC_000009.12:121027202:T:C Identity +NM_001077350.3:c.164C>G NP_001070818.1:p.Ala55Gly NC_000016.10:130545:G:C p.(Ala55Gly) NC_000016.10:130545:G:C p.(Ala55Gly) NC_000016.10:130545:G:C Identity +NM_000179.3:c.3393del NP_000170.1:p.Val1132fs NC_000002.12:47803638:TT:T p.(Val1132LeufsTer13) NC_000002.12:47803638:TT:T p.(Val1132LeufsTer13) NC_000002.12:47803639:T: Analogous +NM_001382629.1:c.415C>G NP_001369558.1:p.Leu139Val NC_000006.12:73636674:G:C p.(Leu139Val) NC_000006.12:73636674:G:C p.(Leu139Val) NC_000006.12:73636674:G:C Identity +NM_001350415.2:c.1637C>T NP_001337344.1:p.Ser546Phe NC_000006.12:72274359:C:T p.(Ser546Phe) NC_000006.12:72274359:C:T p.(Ser546Phe) NC_000006.12:72274359:C:T Identity +NM_001040108.2:c.3238A>C NP_001035197.1:p.Lys1080Gln NC_000014.9:75046417:T:G p.(Lys1080Gln) NC_000014.9:75046417:T:G p.(Lys1080Gln) NC_000014.9:75046417:T:G Identity +NM_001318245.2:c.2893G>A NP_001305174.1:p.Glu965Lys NC_000022.11:25828881:G:A p.(Glu965Lys) NC_000022.11:25828881:G:A p.(Glu965Lys) NC_000022.11:25828881:G:A Identity +NM_001135999.2:c.2851G>A NP_001129471.2:p.Val951Met NC_000009.12:35556315:G:A p.(Val951Met) NC_000009.12:35556315:G:A p.(Val951Met) NC_000009.12:35556315:G:A Identity +NM_000379.4:c.328G>A NP_000370.2:p.Gly110Ser NC_000002.12:31398677:C:T p.(Gly110Ser) NC_000002.12:31398677:C:T p.(Gly110Ser) NC_000002.12:31398677:C:T Identity +NM_001144769.5:c.7354A>G NP_001138241.1:p.Ile2452Val NC_000006.12:56572109:T:C p.(Ile2452Val) NC_000006.12:56572109:T:C p.(Ile2452Val) NC_000006.12:56572109:T:C Identity +NM_001195728.3:c.436C>T NP_001182657.1:p.Pro146Ser NC_000011.10:35312295:G:A p.(Pro146Ser) NC_000011.10:35312295:G:A p.(Pro146Ser) NC_000011.10:35312295:G:A Identity +NM_001195263.2:c.893A>G NP_001182192.1:p.Lys298Arg NC_000010.11:101020652:T:C p.(Lys298Arg) NC_000010.11:101020652:T:C p.(Lys298Arg) NC_000010.11:101020652:T:C Identity +NM_001377260.1:c.226G>A NP_001364189.1:p.Gly76Ser NC_000001.11:231421662:C:T p.(Gly76Ser) NC_000001.11:231421662:C:T p.(Gly76Ser) NC_000001.11:231421662:C:T Identity +NM_001382235.1:c.2499T>G NP_001369164.1:p.Asp833Glu NC_000020.11:63406817:A:C p.(Asp833Glu) NC_000020.11:63406817:A:C p.(Asp833Glu) NC_000020.11:63406817:A:C Identity +NM_001317924.2:c.2155T>C NP_001304853.1:p.Ser719Pro NC_000004.12:39244541:T:C p.(Ser719Pro) NC_000004.12:39244541:T:C p.(Ser719Pro) NC_000004.12:39244541:T:C Identity +NM_032444.4:c.2747C>T NP_115820.2:p.Ala916Val NC_000016.10:3590890:G:A p.(Ala916Val) NC_000016.10:3590890:G:A p.(Ala916Val) NC_000016.10:3590890:G:A Identity +NM_014003.4:c.1738A>G NP_054722.2:p.Ile580Val NC_000016.10:72103701:A:G p.(Ile580Val) NC_000016.10:72103701:A:G p.(Ile580Val) NC_000016.10:72103701:A:G Identity +NM_032119.4:c.1825C>A NP_115495.3:p.His609Asn NC_000005.10:90629524:C:A p.(His609Asn) NC_000005.10:90629524:C:A p.(His609Asn) NC_000005.10:90629524:C:A Identity +NM_001040108.2:c.121G>A NP_001035197.1:p.Val41Met NC_000014.9:75049534:C:T p.(Val41Met) NC_000014.9:75049534:C:T p.(Val41Met) NC_000014.9:75049534:C:T Identity +NM_000069.3:c.4760C>A NP_000060.2:p.Ala1587Asp NC_000001.11:201044364:G:T p.(Ala1587Asp) NC_000001.11:201044364:G:T p.(Ala1587Asp) NC_000001.11:201044364:G:T Identity +NM_004706.4:c.1468G>A NP_004697.2:p.Glu490Lys NC_000019.10:41902326:G:A p.(Glu490Lys) NC_000019.10:41902326:G:A p.(Glu490Lys) NC_000019.10:41902326:G:A Identity +NM_001319667.1:c.269C>A NP_001306596.1:p.Ser90Tyr NC_000001.11:169470121:G:T p.(Ser90Tyr) NC_000001.11:169470121:G:T p.(Ser90Tyr) NC_000001.11:169470121:G:T Identity +NM_001173484.2:c.479G>A NP_001166955.1:p.Gly160Glu NC_000010.11:20812818:C:T p.(Gly160Glu) NC_000010.11:20812818:C:T p.(Gly160Glu) NC_000010.11:20812818:C:T Identity +NM_001171933.1:c.2908A>G NP_001165404.1:p.Ile970Val NC_000010.11:71812884:A:G p.(Ile970Val) NC_000010.11:71812884:A:G p.(Ile970Val) NC_000010.11:71812884:A:G Identity +NM_004629.2:c.410C>G NP_004620.1:p.Ser137Cys NC_000009.12:35078240:G:C p.(Ser137Cys) NC_000009.12:35078240:G:C p.(Ser137Cys) NC_000009.12:35078240:G:C Identity +NM_199242.3:c.2047G>C NP_954712.1:p.Glu683Gln NC_000017.11:75834661:C:G p.(Glu683Gln) NC_000017.11:75834661:C:G p.(Glu683Gln) NC_000017.11:75834661:C:G Identity +NM_052813.5:c.1138G>A NP_434700.2:p.Ala380Thr NC_000009.12:136367767:C:T p.(Ala380Thr) NC_000009.12:136367767:C:T p.(Ala380Thr) NC_000009.12:136367767:C:T Identity +NM_004369.4:c.8993T>C NP_004360.2:p.Phe2998Ser NC_000002.12:237334861:A:G p.(Phe2998Ser) NC_000002.12:237334861:A:G p.(Phe2998Ser) NC_000002.12:237334861:A:G Identity +NM_001384732.1:c.4678T>C NP_001371661.1:p.Tyr1560His NC_000005.10:37183502:A:G p.(Tyr1560His) NC_000005.10:37183502:A:G p.(Tyr1560His) NC_000005.10:37183502:A:G Identity +NM_001017980.4:c.226G>A NP_001017980.1:p.Val76Ile NC_000023.11:151404977:G:A p.(Val76Ile) NC_000023.11:151404977:G:A p.(Val76Ile) NC_000023.11:151404977:G:A Identity +NM_001114978.2:c.1130C>T NP_001108450.1:p.Pro377Leu NC_000003.12:189869323:C:T p.(Pro377Leu) NC_000003.12:189869323:C:T p.(Pro377Leu) NC_000003.12:189869323:C:T Identity +NM_001079821.3:c.1376G>C NP_001073289.2:p.Gly459Ala NC_000001.11:247424824:G:C p.(Gly459Ala) NC_000001.11:247424824:G:C p.(Gly459Ala) NC_000001.11:247424824:G:C Identity +NM_016219.5:c.1062A>C NP_057303.2:p.Lys354Asn NC_000009.12:137101149:A:C p.(Lys354Asn) NC_000009.12:137101149:A:C p.(Lys354Asn) NC_000009.12:137101149:A:C Identity +NM_004104.5:c.4094C>T NP_004095.4:p.Pro1365Leu NC_000017.11:82085509:G:A p.(Pro1365Leu) NC_000017.11:82085509:G:A p.(Pro1365Leu) NC_000017.11:82085509:G:A Identity +NM_015072.5:c.418C>G NP_055887.3:p.Arg140Gly NC_000014.9:75690237:C:G p.(Arg140Gly) NC_000014.9:75690237:C:G p.(Arg140Gly) NC_000014.9:75690237:C:G Identity +NM_001621.5:c.842G>A NP_001612.1:p.Arg281Gln NC_000007.14:17334047:G:A p.(Arg281Gln) NC_000007.14:17334047:G:A p.(Arg281Gln) NC_000007.14:17334047:G:A Identity +NM_001243246.2:c.2068_2086del NP_001230175.1:p.Arg690fs NC_000001.11:42747240:AGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCG:AGCTGCTCTCACCCGCTCG p.(Arg690GlyfsTer25) NC_000001.11:42747240:AGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCG:AGCTGCTCTCACCCGCTCG p.(Arg690GlyfsTer25) NC_000001.11:42747240:AGCTGCTCTCACCCGCTCG: Analogous +NM_001853.4:c.1897G>C NP_001844.3:p.Gly633Arg NC_000020.11:62840573:G:C p.(Gly633Arg) NC_000020.11:62840573:G:C p.(Gly633Arg) NC_000020.11:62840573:G:C Identity +NM_201550.4:c.69G>T NP_963844.2:p.Arg23Ser NC_000012.12:69610769:C:A p.(Arg23Ser) NC_000012.12:69610769:C:A p.(Arg23Ser) NC_000012.12:69610769:C:A Identity +NM_005751.5:c.5131_5132delinsTT NP_005742.4:p.Asp1711Phe NC_000007.14:92042739:GA:TT p.(Asp1711Phe) NC_000007.14:92042739:GA:TT p.(Asp1711Phe) NC_000007.14:92042739:GA:TT Identity +NM_000939.4:c.255C>G NP_000930.1:p.Asp85Glu NC_000002.12:25161629:G:C p.(Asp85Glu) NC_000002.12:25161629:G:C p.(Asp85Glu) NC_000002.12:25161629:G:C Identity +NM_001317163.2:c.4930C>T NP_001304092.1:p.Pro1644Ser NC_000009.12:120952857:G:A p.(Pro1644Ser) NC_000009.12:120952857:G:A p.(Pro1644Ser) NC_000009.12:120952857:G:A Identity +NM_001303245.3:c.2310A>T NP_001290174.1:p.Leu770Phe NC_000003.12:141609500:A:T p.(Leu770Phe) NC_000003.12:141609500:A:T p.(Leu770Phe) NC_000003.12:141609500:A:T Identity +NM_006929.5:c.1684C>T NP_008860.4:p.Arg562Cys NC_000006.12:31963948:C:T p.(Arg562Cys) NC_000006.12:31963948:C:T p.(Arg562Cys) NC_000006.12:31963948:C:T Identity +NM_001271620.2:c.3251G>A NP_001258549.1:p.Arg1084His NC_000016.10:49635720:C:T p.(Arg1084His) NC_000016.10:49635720:C:T p.(Arg1084His) NC_000016.10:49635720:C:T Identity +NM_000334.4:c.1387G>C NP_000325.4:p.Glu463Gln NC_000017.11:63964532:C:G p.(Glu463Gln) NC_000017.11:63964532:C:G p.(Glu463Gln) NC_000017.11:63964532:C:G Identity +NM_001244189.2:c.2990A>T NP_001231118.1:p.Glu997Val NC_000014.9:58477127:A:T p.(Glu997Val) NC_000014.9:58477127:A:T p.(Glu997Val) NC_000014.9:58477127:A:T Identity +NM_003647.3:c.1526T>A NP_003638.1:p.Leu509Gln NC_000017.11:56862612:T:A p.(Leu509Gln) NC_000017.11:56862612:T:A p.(Leu509Gln) NC_000017.11:56862612:T:A Identity +NM_003632.3:c.70G>C NP_003623.1:p.Gly24Arg NC_000017.11:42683822:G:C p.(Gly24Arg) NC_000017.11:42683822:G:C p.(Gly24Arg) NC_000017.11:42683822:G:C Identity +NM_012327.6:c.994A>G NP_036459.1:p.Ile332Val NC_000018.10:62140448:T:C p.(Ile332Val) NC_000018.10:62140448:T:C p.(Ile332Val) NC_000018.10:62140448:T:C Identity +NM_001318785.2:c.907G>T NP_001305714.1:p.Gly303Ter NC_000006.12:87518247:C:A p.(Gly303Ter) NC_000006.12:87518247:C:A p.(Gly303Ter) NC_000006.12:87518247:C:A Identity +NM_017890.5:c.10583C>A NP_060360.3:p.Pro3528His NC_000008.11:99853896:C:A p.(Pro3528His) NC_000008.11:99853896:C:A p.(Pro3528His) NC_000008.11:99853896:C:A Identity +NM_000755.5:c.1405C>T NP_000746.3:p.Arg469Cys NC_000009.12:129098071:G:A p.(Arg469Cys) NC_000009.12:129098071:G:A p.(Arg469Cys) NC_000009.12:129098071:G:A Identity +NM_001018037.2:c.5190G>T NP_001018047.1:p.Glu1730Asp NC_000009.12:77318584:G:T p.(Glu1730Asp) NC_000009.12:77318584:G:T p.(Glu1730Asp) NC_000009.12:77318584:G:T Identity +NM_004525.3:c.11714G>T NP_004516.2:p.Gly3905Val NC_000002.12:169165975:C:A p.(Gly3905Val) NC_000002.12:169165975:C:A p.(Gly3905Val) NC_000002.12:169165975:C:A Identity +NM_001282424.3:c.2204C>A NP_001269353.2:p.Ala735Asp NC_000012.12:8863967:C:A p.(Ala735Asp) NC_000012.12:8863967:C:A p.(Ala735Asp) NC_000012.12:8863967:C:A Identity +NM_001184720.2:c.339T>A NP_001171649.1:p.Asp113Glu NC_000003.12:148996761:T:A p.(Asp113Glu) NC_000003.12:148996761:T:A p.(Asp113Glu) NC_000003.12:148996761:T:A Identity +NM_001293306.2:c.1286A>G NP_001280235.2:p.Gln429Arg NC_000003.12:38756677:T:C p.(Gln429Arg) NC_000003.12:38756677:T:C p.(Gln429Arg) NC_000003.12:38756677:T:C Identity +NM_005902.4:c.23C>G NP_005893.1:p.Thr8Ser NC_000015.10:67066176:C:G p.(Thr8Ser) NC_000015.10:67066176:C:G p.(Thr8Ser) NC_000015.10:67066176:C:G Identity +NM_001243776.2:c.1160A>G NP_001230705.1:p.Lys387Arg NC_000011.10:95829245:A:G p.(Lys387Arg) NC_000011.10:95829245:A:G p.(Lys387Arg) NC_000011.10:95829245:A:G Identity +NM_004525.3:c.974C>T NP_004516.2:p.Pro325Leu NC_000002.12:169289093:G:A p.(Pro325Leu) NC_000002.12:169289093:G:A p.(Pro325Leu) NC_000002.12:169289093:G:A Identity +NM_001128855.3:c.248G>A NP_001122327.1:p.Ser83Asn NC_000019.10:17338201:G:A p.(Ser83Asn) NC_000019.10:17338201:G:A p.(Ser83Asn) NC_000019.10:17338201:G:A Identity +NM_000553.6:c.3787T>A NP_000544.2:p.Tyr1263Asn NC_000008.11:31154722:T:A p.(Tyr1263Asn) NC_000008.11:31154722:T:A p.(Tyr1263Asn) NC_000008.11:31154722:T:A Identity +NM_001037631.3:c.486G>A NP_001032720.1:p.Arg162= NC_000002.12:203872735:G:A p.(Arg162=) NC_000002.12:203872735:G:A p.(Arg162=) NC_000002.12:203872735:G:A Identity +NM_145290.4:c.708C>A NP_660333.2:p.Asp236Glu NC_000004.12:22442861:G:T p.(Asp236Glu) NC_000004.12:22442861:G:T p.(Asp236Glu) NC_000004.12:22442861:G:T Identity +NM_001005407.2:c.6140G>T NP_001005407.1:p.Gly2047Val NC_000016.10:1220089:G:T p.(Gly2047Val) NC_000016.10:1220089:G:T p.(Gly2047Val) NC_000016.10:1220089:G:T Identity +NM_000282.4:c.1154A>G NP_000273.2:p.Lys385Arg NC_000013.11:100301547:A:G p.(Lys385Arg) NC_000013.11:100301547:A:G p.(Lys385Arg) NC_000013.11:100301547:A:G Identity +NM_001135659.3:c.164G>C NP_001129131.1:p.Ser55Thr NC_000002.12:51028109:C:G p.(Ser55Thr) NC_000002.12:51028109:C:G p.(Ser55Thr) NC_000002.12:51028109:C:G Identity +NM_000028.3:c.1389G>A NP_000019.2:p.Met463Ile NC_000001.11:99876562:G:A p.(Met463Ile) NC_000001.11:99876562:G:A p.(Met463Ile) NC_000001.11:99876562:G:A Identity +NM_000426.4:c.9190G>T NP_000417.3:p.Val3064Leu NC_000006.12:129514573:G:T p.(Val3064Leu) NC_000006.12:129514573:G:T p.(Val3064Leu) NC_000006.12:129514573:G:T Identity +NM_001130991.3:c.2883G>T NP_001124463.1:p.Glu961Asp NC_000011.10:119046420:C:A p.(Glu961Asp) NC_000011.10:119046420:C:A p.(Glu961Asp) NC_000011.10:119046420:C:A Identity +NM_001003800.2:c.793A>C NP_001003800.1:p.Met265Leu NC_000009.12:92720568:T:G p.(Met265Leu) NC_000009.12:92720568:T:G p.(Met265Leu) NC_000009.12:92720568:T:G Identity +NM_004064.5:c.145T>G NP_004055.1:p.Cys49Gly NC_000012.12:12717983:T:G p.(Cys49Gly) NC_000012.12:12717983:T:G p.(Cys49Gly) NC_000012.12:12717983:T:G Identity +NM_001350888.2:c.223A>C NP_001337817.1:p.Thr75Pro NC_000014.9:96398191:A:C p.(Thr75Pro) NC_000014.9:96398191:A:C p.(Thr75Pro) NC_000014.9:96398191:A:C Identity +NM_001040142.2:c.3849T>A NP_001035232.1:p.Asp1283Glu NC_000002.12:165370298:T:A p.(Asp1283Glu) NC_000002.12:165370298:T:A p.(Asp1283Glu) NC_000002.12:165370298:T:A Identity +NM_206933.4:c.12100G>T NP_996816.3:p.Glu4034Ter NC_000001.11:215680342:C:A p.(Glu4034Ter) NC_000001.11:215680342:C:A p.(Glu4034Ter) NC_000001.11:215680342:C:A Identity +NM_001308133.2:c.3751A>G NP_001295062.1:p.Asn1251Asp NC_000014.9:45176582:A:G p.(Asn1251Asp) NC_000014.9:45176582:A:G p.(Asn1251Asp) NC_000014.9:45176582:A:G Identity +NM_005188.4:c.1112_1114del NP_005179.2:p.Tyr371del NC_000011.10:119278180:TACT:T p.(Tyr371del) NC_000011.10:119278180:TACT:T p.(Tyr371del) NC_000011.10:119278181:ACT: Identity +NM_018109.4:c.22C>G NP_060579.3:p.Leu8Val NC_000010.11:30349253:G:C p.(Leu8Val) NC_000010.11:30349253:G:C p.(Leu8Val) NC_000010.11:30349253:G:C Identity +NM_001244189.2:c.1958A>G NP_001231118.1:p.His653Arg NC_000014.9:58459984:A:G p.(His653Arg) NC_000014.9:58459984:A:G p.(His653Arg) NC_000014.9:58459984:A:G Identity +NM_001136037.4:c.1021C>T NP_001129509.2:p.Arg341Trp NC_000002.12:127639351:G:A p.(Arg341Trp) NC_000002.12:127639351:G:A p.(Arg341Trp) NC_000002.12:127639351:G:A Identity +NM_198578.4:c.1310T>C NP_940980.4:p.Leu437Ser NC_000012.12:40257268:T:C p.(Leu437Ser) NC_000012.12:40257268:T:C p.(Leu437Ser) NC_000012.12:40257268:T:C Identity +NM_000359.3:c.890del NP_000350.1:p.Val297fs NC_000014.9:24259797:A: p.(Val297GlyfsTer33) NC_000014.9:24259797:A: p.(Val297GlyfsTer33) NC_000014.9:24259797:A: Analogous +NM_001177428.1:c.1316C>A NP_001170899.1:p.Thr439Asn NC_000012.12:109794362:G:T p.(Thr439Asn) NC_000012.12:109794362:G:T p.(Thr439Asn) NC_000012.12:109794362:G:T Identity +NM_001388492.1:c.6577G>C NP_001375421.1:p.Glu2193Gln NC_000004.12:3212090:G:C p.(Glu2193Gln) NC_000004.12:3212090:G:C p.(Glu2193Gln) NC_000004.12:3212090:G:C Identity +NM_001318872.2:c.955C>A NP_001305801.1:p.Leu319Ile NC_000006.12:5545229:C:A p.(Leu319Ile) NC_000006.12:5545229:C:A p.(Leu319Ile) NC_000006.12:5545229:C:A Identity +NM_000445.5:c.3145C>T NP_000436.2:p.Arg1049Cys NC_000008.11:143929430:G:A p.(Arg1049Cys) NC_000008.11:143929430:G:A p.(Arg1049Cys) NC_000008.11:143929430:G:A Identity +NM_001353229.2:c.895G>C NP_001340158.1:p.Asp299His NC_000017.11:17221566:C:G p.(Asp299His) NC_000017.11:17221566:C:G p.(Asp299His) NC_000017.11:17221566:C:G Identity +NM_000350.3:c.6407T>C NP_000341.2:p.Leu2136Pro NC_000001.11:94000907:A:G p.(Leu2136Pro) NC_000001.11:94000907:A:G p.(Leu2136Pro) NC_000001.11:94000907:A:G Identity +NM_002076.4:c.1603A>G NP_002067.1:p.Met535Val NC_000012.12:64716796:T:C p.(Met535Val) NC_000012.12:64716796:T:C p.(Met535Val) NC_000012.12:64716796:T:C Identity +NM_001135659.3:c.1706A>G NP_001129131.1:p.Asp569Gly NC_000002.12:50552759:T:C p.(Asp569Gly) NC_000002.12:50552759:T:C p.(Asp569Gly) NC_000002.12:50552759:T:C Identity +NM_001025205.2:c.255G>A NP_001020376.1:p.Met85Ile NC_000003.12:184179036:G:A p.(Met85Ile) NC_000003.12:184179036:G:A p.(Met85Ile) NC_000003.12:184179036:G:A Identity +NM_002334.4:c.4109A>G NP_002325.2:p.Asp1370Gly NC_000011.10:46874919:T:C p.(Asp1370Gly) NC_000011.10:46874919:T:C p.(Asp1370Gly) NC_000011.10:46874919:T:C Identity +NM_152383.5:c.2491C>T NP_689596.4:p.Gln831Ter NC_000002.12:232335868:C:T p.(Gln831Ter) NC_000002.12:232335868:C:T p.(Gln831Ter) NC_000002.12:232335868:C:T Identity +NM_015560.3:c.127T>C NP_056375.2:p.Ser43Pro NC_000003.12:193614816:T:C p.(Ser43Pro) NC_000003.12:193614816:T:C p.(Ser43Pro) NC_000003.12:193614816:T:C Identity +NM_001145715.3:c.89C>T NP_001139187.1:p.Ala30Val NC_000007.14:99203217:G:A p.(Ala30Val) NC_000007.14:99203217:G:A p.(Ala30Val) NC_000007.14:99203217:G:A Identity +NM_001256850.1:c.102654G>A NP_001243779.1:p.Met34218Ile NC_000002.12:178527548:C:T p.(Met34218Ile) NC_000002.12:178527548:C:T p.(Met34218Ile) NC_000002.12:178527548:C:T Identity +NM_000264.5:c.2254G>A NP_000255.2:p.Val752Met NC_000009.12:95467421:C:T p.(Val752Met) NC_000009.12:95467421:C:T p.(Val752Met) NC_000009.12:95467421:C:T Identity +NM_000720.4:c.265G>A NP_000711.1:p.Ala89Thr NC_000003.12:53497348:G:A p.(Ala89Thr) NC_000003.12:53497348:G:A p.(Ala89Thr) NC_000003.12:53497348:G:A Identity +NM_003816.3:c.338A>G NP_003807.1:p.His113Arg NC_000008.11:39016121:A:G p.(His113Arg) NC_000008.11:39016121:A:G p.(His113Arg) NC_000008.11:39016121:A:G Identity +NM_003373.4:c.1066G>A NP_003364.1:p.Val356Ile NC_000010.11:74089238:G:A p.(Val356Ile) NC_000010.11:74089238:G:A p.(Val356Ile) NC_000010.11:74089238:G:A Identity +NM_004531.5:c.26C>T NP_004522.1:p.Ser9Leu NC_000005.10:53107148:G:A p.(Ser9Leu) NC_000005.10:53107148:G:A p.(Ser9Leu) NC_000005.10:53107148:G:A Identity +NM_001362949.2:c.599A>G NP_001349878.1:p.Asn200Ser NC_000022.11:33604450:T:C p.(Asn200Ser) NC_000022.11:33604450:T:C p.(Asn200Ser) NC_000022.11:33604450:T:C Identity +NM_001081640.2:c.1132G>A NP_001075109.1:p.Ala378Thr NC_000008.11:47936498:C:T p.(Ala378Thr) NC_000008.11:47936498:C:T p.(Ala378Thr) NC_000008.11:47936498:C:T Identity +NM_001161587.2:c.605C>T NP_001155059.1:p.Ala202Val NC_000019.10:48985486:G:A p.(Ala202Val) NC_000019.10:48985486:G:A p.(Ala202Val) NC_000019.10:48985486:G:A Identity +NM_001379632.1:c.2324G>A NP_001366561.1:p.Arg775Gln NC_000002.12:240760757:C:T p.(Arg775Gln) NC_000002.12:240760757:C:T p.(Arg775Gln) NC_000002.12:240760757:C:T Identity +NM_001363850.1:c.1201G>A NP_001350779.1:p.Ala401Thr NC_000016.10:89532512:G:A p.(Ala401Thr) NC_000016.10:89532512:G:A p.(Ala401Thr) NC_000016.10:89532512:G:A Identity +NM_001243835.2:c.1523G>A NP_001230764.1:p.Arg508His NC_000002.12:191036210:C:T p.(Arg508His) NC_000002.12:191036210:C:T p.(Arg508His) NC_000002.12:191036210:C:T Identity +NM_001193304.3:c.46A>G NP_001180233.1:p.Arg16Gly NC_000002.12:96265335:T:C p.(Arg16Gly) NC_000002.12:96265335:T:C p.(Arg16Gly) NC_000002.12:96265335:T:C Identity +NM_001289148.1:c.517G>A NP_001276077.1:p.Ala173Thr NC_000015.10:91007473:C:T p.(Ala173Thr) NC_000015.10:91007473:C:T p.(Ala173Thr) NC_000015.10:91007473:C:T Identity +NM_001345867.2:c.190G>A NP_001332796.1:p.Val64Ile NC_000004.12:44689368:G:A p.(Val64Ile) NC_000004.12:44689368:G:A p.(Val64Ile) NC_000004.12:44689368:G:A Identity +NM_000038.6:c.3388T>C NP_000029.2:p.Cys1130Arg NC_000005.10:112838981:T:C p.(Cys1130Arg) NC_000005.10:112838981:T:C p.(Cys1130Arg) NC_000005.10:112838981:T:C Identity +NM_001388492.1:c.2001A>C NP_001375421.1:p.Lys667Asn NC_000004.12:3131299:A:C p.(Lys667Asn) NC_000004.12:3131299:A:C p.(Lys667Asn) NC_000004.12:3131299:A:C Identity +NM_001080522.2:c.3146G>A NP_001073991.2:p.Arg1049Gln NC_000004.12:15563485:G:A p.(Arg1049Gln) NC_000004.12:15563485:G:A p.(Arg1049Gln) NC_000004.12:15563485:G:A Identity +NM_002292.4:c.4100G>C NP_002283.3:p.Arg1367Pro NC_000003.12:49123255:C:G p.(Arg1367Pro) NC_000003.12:49123255:C:G p.(Arg1367Pro) NC_000003.12:49123255:C:G Identity +NM_001363602.2:c.246G>A NP_001350531.1:p.Met82Ile NC_000019.10:1390887:G:A p.(Met82Ile) NC_000019.10:1390887:G:A p.(Met82Ile) NC_000019.10:1390887:G:A Identity +NM_001110556.2:c.1759G>T NP_001104026.1:p.Glu587Ter NC_000023.11:154364889:C:A p.(Glu587Ter) NC_000023.11:154364889:C:A p.(Glu587Ter) NC_000023.11:154364889:C:A Identity +NM_022166.4:c.179C>T NP_071449.1:p.Ala60Val NC_000016.10:17470617:G:A p.(Ala60Val) NC_000016.10:17470617:G:A p.(Ala60Val) NC_000016.10:17470617:G:A Identity +NM_001103.4:c.1379A>G NP_001094.1:p.Gln460Arg NC_000001.11:236744748:A:G p.(Gln460Arg) NC_000001.11:236744748:A:G p.(Gln460Arg) NC_000001.11:236744748:A:G Identity +NM_001161581.2:c.892C>G NP_001155053.1:p.Pro298Ala NC_000003.12:52096687:G:C p.(Pro298Ala) NC_000003.12:52096687:G:C p.(Pro298Ala) NC_000003.12:52096687:G:C Identity +NM_001039141.3:c.5903G>A NP_001034230.1:p.Arg1968His NC_000022.11:37757827:G:A p.(Arg1968His) NC_000022.11:37757827:G:A p.(Arg1968His) NC_000022.11:37757827:G:A Identity +NM_000920.4:c.2707G>A NP_000911.2:p.Asp903Asn NC_000011.10:66850230:C:T p.(Asp903Asn) NC_000011.10:66850230:C:T p.(Asp903Asn) NC_000011.10:66850230:C:T Identity +NM_015072.5:c.3496C>G NP_055887.3:p.Leu1166Val NC_000014.9:75863835:C:G p.(Leu1166Val) NC_000014.9:75863835:C:G p.(Leu1166Val) NC_000014.9:75863835:C:G Identity +NM_001363227.2:c.838C>T NP_001350156.1:p.Leu280Phe NC_000008.11:43173729:C:T p.(Leu280Phe) NC_000008.11:43173729:C:T p.(Leu280Phe) NC_000008.11:43173729:C:T Identity +NM_001190799.2:c.1922A>G NP_001177728.1:p.Tyr641Cys NC_000004.12:127891660:A:G p.(Tyr641Cys) NC_000004.12:127891660:A:G p.(Tyr641Cys) NC_000004.12:127891660:A:G Identity +NM_000400.4:c.1106G>A NP_000391.1:p.Arg369His NC_000019.10:45363754:C:T p.(Arg369His) NC_000019.10:45363754:C:T p.(Arg369His) NC_000019.10:45363754:C:T Identity +NM_000211.5:c.347A>G NP_000202.3:p.Asn116Ser NC_000021.9:44903516:T:C p.(Asn116Ser) NC_000021.9:44903516:T:C p.(Asn116Ser) NC_000021.9:44903516:T:C Identity +NM_001849.4:c.161C>T NP_001840.3:p.Ser54Leu NC_000021.9:46112023:C:T p.(Ser54Leu) NC_000021.9:46112023:C:T p.(Ser54Leu) NC_000021.9:46112023:C:T Identity +NM_000063.6:c.259G>C NP_000054.2:p.Val87Leu NC_000006.12:31928733:G:C p.(Val87Leu) NC_000006.12:31928733:G:C p.(Val87Leu) NC_000006.12:31928733:G:C Identity +NM_001848.3:c.2339C>A NP_001839.2:p.Ser780Tyr NC_000021.9:46002614:C:A p.(Ser780Tyr) NC_000021.9:46002614:C:A p.(Ser780Tyr) NC_000021.9:46002614:C:A Identity +NM_000781.3:c.347C>T NP_000772.2:p.Pro116Leu NC_000015.10:74347977:G:A p.(Pro116Leu) NC_000015.10:74347977:G:A p.(Pro116Leu) NC_000015.10:74347977:G:A Identity +NM_000587.4:c.1518G>A NP_000578.2:p.Trp506Ter NC_000005.10:40959476:G:A p.(Trp506Ter) NC_000005.10:40959476:G:A p.(Trp506Ter) NC_000005.10:40959476:G:A Identity +NM_001173425.2:c.321C>A NP_001166896.1:p.Asp107Glu NC_000009.12:114504480:G:T p.(Asp107Glu) NC_000009.12:114504480:G:T p.(Asp107Glu) NC_000009.12:114504480:G:T Identity +NM_000263.4:c.109G>T NP_000254.2:p.Ala37Ser NC_000017.11:42536380:G:T p.(Ala37Ser) NC_000017.11:42536380:G:T p.(Ala37Ser) NC_000017.11:42536380:G:T Identity +NM_001098268.2:c.2044A>C NP_001091738.1:p.Ile682Leu NC_000013.11:108209224:T:G p.(Ile682Leu) NC_000013.11:108209224:T:G p.(Ile682Leu) NC_000013.11:108209224:T:G Identity +NM_001134477.3:c.311A>G NP_001127949.1:p.Asn104Ser NC_000016.10:14610703:T:C p.(Asn104Ser) NC_000016.10:14610703:T:C p.(Asn104Ser) NC_000016.10:14610703:T:C Identity +NM_000165.5:c.896G>A NP_000156.1:p.Arg299His NC_000006.12:121447742:G:A p.(Arg299His) NC_000006.12:121447742:G:A p.(Arg299His) NC_000006.12:121447742:G:A Identity +NM_001293557.2:c.1502C>A NP_001280486.1:p.Pro501Gln NC_000016.10:50711493:C:A p.(Pro501Gln) NC_000016.10:50711493:C:A p.(Pro501Gln) NC_000016.10:50711493:C:A Identity +NM_000426.4:c.6698T>C NP_000417.3:p.Val2233Ala NC_000006.12:129454278:T:C p.(Val2233Ala) NC_000006.12:129454278:T:C p.(Val2233Ala) NC_000006.12:129454278:T:C Identity +NM_001302946.2:c.933A>T NP_001289875.2:p.Lys311Asn NC_000003.12:3147639:A:T p.(Lys311Asn) NC_000003.12:3147639:A:T p.(Lys311Asn) NC_000003.12:3147639:A:T Identity +NM_000391.4:c.532C>T NP_000382.3:p.Pro178Ser NC_000011.10:6617129:G:A p.(Pro178Ser) NC_000011.10:6617129:G:A p.(Pro178Ser) NC_000011.10:6617129:G:A Identity +NM_001164317.2:c.3676G>A NP_001157789.1:p.Val1226Met NC_000003.12:58123641:G:A p.(Val1226Met) NC_000003.12:58123641:G:A p.(Val1226Met) NC_000003.12:58123641:G:A Identity +NM_002900.3:c.710G>A NP_002891.1:p.Gly237Asp NC_000010.11:47349193:G:A p.(Gly237Asp) NC_000010.11:47349193:G:A p.(Gly237Asp) NC_000010.11:47349193:G:A Identity +NM_000251.3:c.1216C>G NP_000242.1:p.Arg406Gly NC_000002.12:47429880:C:G p.(Arg406Gly) NC_000002.12:47429880:C:G p.(Arg406Gly) NC_000002.12:47429880:C:G Identity +NM_024408.4:c.3701A>G NP_077719.2:p.His1234Arg NC_000001.11:119929166:T:C p.(His1234Arg) NC_000001.11:119929166:T:C p.(His1234Arg) NC_000001.11:119929166:T:C Identity +NM_001144996.2:c.923G>A NP_001138468.1:p.Arg308His NC_000012.12:55698796:C:T p.(Arg308His) NC_000012.12:55698796:C:T p.(Arg308His) NC_000012.12:55698796:C:T Identity +NM_005732.4:c.1561C>G NP_005723.2:p.Leu521Val NC_000005.10:132591331:C:G p.(Leu521Val) NC_000005.10:132591331:C:G p.(Leu521Val) NC_000005.10:132591331:C:G Identity +NM_001042517.2:c.795T>G NP_001035982.1:p.Ser265Arg NC_000013.11:60010645:A:C p.(Ser265Arg) NC_000013.11:60010645:A:C p.(Ser265Arg) NC_000013.11:60010645:A:C Identity +NM_006063.3:c.209A>T NP_006054.2:p.Lys70Ile NC_000002.12:169509986:A:T p.(Lys70Ile) NC_000002.12:169509986:A:T p.(Lys70Ile) NC_000002.12:169509986:A:T Identity +NM_001318746.1:c.62G>A NP_001305675.1:p.Arg21Gln NC_000006.12:106622881:C:T p.(Arg21Gln) NC_000006.12:106622881:C:T p.(Arg21Gln) NC_000006.12:106622881:C:T Identity +NM_000204.5:c.1547G>T NP_000195.3:p.Gly516Val NC_000004.12:109741097:C:A p.(Gly516Val) NC_000004.12:109741097:C:A p.(Gly516Val) NC_000004.12:109741097:C:A Identity +NM_001330588.2:c.1853T>C NP_001317517.1:p.Ile618Thr NC_000013.11:102638254:T:C p.(Ile618Thr) NC_000013.11:102638254:T:C p.(Ile618Thr) NC_000013.11:102638254:T:C Identity +NM_001378454.1:c.5215del NP_001365383.1:p.Ser1739fs NC_000002.12:73451739:TTT:TT p.(Ser1739GlnfsTer16) NC_000002.12:73451739:TTT:TT p.(Ser1739GlnfsTer16) NC_000002.12:73451741:T: Analogous +NM_000059.4:c.6513_6514delinsCC NP_000050.3:p.Ser2172Pro NC_000013.11:32340867:GT:CC p.(Ser2172Pro) NC_000013.11:32340867:GT:CC p.(Ser2172Pro) NC_000013.11:32340867:GT:CC Identity +NM_004104.5:c.1429C>A NP_004095.4:p.Arg477Ser NC_000017.11:82091284:G:T p.(Arg477Ser) NC_000017.11:82091284:G:T p.(Arg477Ser) NC_000017.11:82091284:G:T Identity +NM_001130518.2:c.1174C>T NP_001123990.1:p.Pro392Ser NC_000008.11:19418708:G:A p.(Pro392Ser) NC_000008.11:19418708:G:A p.(Pro392Ser) NC_000008.11:19418708:G:A Identity +NM_001081640.2:c.11149G>C NP_001075109.1:p.Val3717Leu NC_000008.11:47783767:C:G p.(Val3717Leu) NC_000008.11:47783767:C:G p.(Val3717Leu) NC_000008.11:47783767:C:G Identity +NM_001082537.3:c.1033T>A NP_001076006.1:p.Ser345Thr NC_000012.12:110641077:T:A p.(Ser345Thr) NC_000012.12:110641077:T:A p.(Ser345Thr) NC_000012.12:110641077:T:A Identity +NM_001409301.1:c.340A>C NP_001396230.1:p.Thr114Pro NC_000005.10:177135442:A:C p.(Thr114Pro) NC_000005.10:177135442:A:C p.(Thr114Pro) NC_000005.10:177135442:A:C Identity +NM_000370.3:c.787A>G NP_000361.1:p.Ile263Val NC_000008.11:63061301:T:C p.(Ile263Val) NC_000008.11:63061301:T:C p.(Ile263Val) NC_000008.11:63061301:T:C Identity +NM_000388.4:c.1043_1044delinsAA NP_000379.3:p.Ala348Glu NC_000003.12:122262077:CC:AA p.(Ala348Glu) NC_000003.12:122262077:CC:AA p.(Ala348Glu) NC_000003.12:122262077:CC:AA Identity +NM_001172309.2:c.605C>G NP_001165780.1:p.Ala202Gly NC_000001.11:77926824:C:G p.(Ala202Gly) NC_000001.11:77926824:C:G p.(Ala202Gly) NC_000001.11:77926824:C:G Identity +NM_000263.4:c.1892G>A NP_000254.2:p.Ser631Asn NC_000017.11:42543897:G:A p.(Ser631Asn) NC_000017.11:42543897:G:A p.(Ser631Asn) NC_000017.11:42543897:G:A Identity +NM_000401.3:c.745G>A NP_000392.3:p.Gly249Ser NC_000011.10:44114203:G:A p.(Gly249Ser) NC_000011.10:44114203:G:A p.(Gly249Ser) NC_000011.10:44114203:G:A Identity +NM_001378454.1:c.8630_8631insG NP_001365383.1:p.Ser2878fs NC_000002.12:73490589::G p.(Ser2878PhefsTer6) NC_000002.12:73490588:C:G p.(Ser2878PhefsTer6) NC_000002.12:73490589:CT:G Analogous +NM_000257.4:c.722C>A NP_000248.2:p.Ser241Tyr NC_000014.9:23431594:G:T p.(Ser241Tyr) NC_000014.9:23431594:G:T p.(Ser241Tyr) NC_000014.9:23431594:G:T Identity +NM_001379500.1:c.331A>G NP_001366429.1:p.Ile111Val NC_000021.9:45468465:A:G p.(Ile111Val) NC_000021.9:45468465:A:G p.(Ile111Val) NC_000021.9:45468465:A:G Identity +NM_000944.5:c.1489A>T NP_000935.1:p.Asn497Tyr NC_000004.12:101025941:T:A p.(Asn497Tyr) NC_000004.12:101025941:T:A p.(Asn497Tyr) NC_000004.12:101025941:T:A Identity +NM_001382235.1:c.792C>G NP_001369164.1:p.Tyr264Ter NC_000020.11:63442429:G:C p.(Tyr264Ter) NC_000020.11:63442429:G:C p.(Tyr264Ter) NC_000020.11:63442429:G:C Identity +NM_000395.3:c.941C>T NP_000386.1:p.Ala314Val NC_000022.11:36930758:C:T p.(Ala314Val) NC_000022.11:36930758:C:T p.(Ala314Val) NC_000022.11:36930758:C:T Identity +NM_000323.2:c.2558C>T NP_000314.1:p.Ser853Leu NC_000010.11:43119695:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001081640.2:c.1657G>A NP_001075109.1:p.Val553Met NC_000008.11:47933138:C:T p.(Val553Met) NC_000008.11:47933138:C:T p.(Val553Met) NC_000008.11:47933138:C:T Identity +NM_000632.4:c.3198C>G NP_000623.2:p.Ile1066Met NC_000016.10:31330526:C:G p.(Ile1066Met) NC_000016.10:31330526:C:G p.(Ile1066Met) NC_000016.10:31330526:C:G Identity +NM_000260.4:c.5533C>T NP_000251.3:p.Pro1845Ser NC_000011.10:77205513:C:T p.(Pro1845Ser) NC_000011.10:77205513:C:T p.(Pro1845Ser) NC_000011.10:77205513:C:T Identity +NM_133497.4:c.25C>T NP_598004.1:p.Arg9Trp NC_000009.12:2717763:C:T p.(Arg9Trp) NC_000009.12:2717763:C:T p.(Arg9Trp) NC_000009.12:2717763:C:T Identity +NM_001127698.2:c.3106T>C NP_001121170.1:p.Cys1036Arg NC_000005.10:148131309:T:C p.(Cys1036Arg) NC_000005.10:148131309:T:C p.(Cys1036Arg) NC_000005.10:148131309:T:C Identity +NM_000178.4:c.494A>G NP_000169.1:p.His165Arg NC_000020.11:34941826:T:C p.(His165Arg) NC_000020.11:34941826:T:C p.(His165Arg) NC_000020.11:34941826:T:C Identity +NM_000038.6:c.2082C>A NP_000029.2:p.Asp694Glu NC_000005.10:112837675:C:A p.(Asp694Glu) NC_000005.10:112837675:C:A p.(Asp694Glu) NC_000005.10:112837675:C:A Identity +NM_152383.5:c.2216G>A NP_689596.4:p.Cys739Tyr NC_000002.12:232334425:G:A p.(Cys739Tyr) NC_000002.12:232334425:G:A p.(Cys739Tyr) NC_000002.12:232334425:G:A Identity +NM_005430.4:c.305G>C NP_005421.1:p.Trp102Ser NC_000012.12:48979667:G:C p.(Trp102Ser) NC_000012.12:48979667:G:C p.(Trp102Ser) NC_000012.12:48979667:G:C Identity +NM_001142298.2:c.467T>C NP_001135770.1:p.Val156Ala NC_000005.10:179825190:T:C p.(Val156Ala) NC_000005.10:179825190:T:C p.(Val156Ala) NC_000005.10:179825190:T:C Identity +NM_000719.7:c.5932G>A NP_000710.5:p.Glu1978Lys NC_000012.12:2688593:G:A p.(Glu1978Lys) NC_000012.12:2688593:G:A p.(Glu1978Lys) NC_000012.12:2688593:G:A Identity +NM_025114.4:c.6154_6161del NP_079390.3:p.Asp2052fs NC_000012.12:88064089:TGATCATCTGA:TGA p.(Asp2052LeufsTer17) NC_000012.12:88064089:TGATCATCTGA:TGA p.(Asp2052LeufsTer17) NC_000012.12:88064089:TGATCATC: Analogous +NM_004104.5:c.4427A>G NP_004095.4:p.Asn1476Ser NC_000017.11:82084935:T:C p.(Asn1476Ser) NC_000017.11:82084935:T:C p.(Asn1476Ser) NC_000017.11:82084935:T:C Identity +NM_000426.4:c.7870_7871dup NP_000417.3:p.Ser2625fs NC_000006.12:129486592:ACA:ACACA p.(Ser2625IlefsTer5) NC_000006.12:129486592:ACA:ACACA p.(Ser2625IlefsTer5) ERR:SPDI Analogous +NM_000334.4:c.5290G>A NP_000325.4:p.Asp1764Asn NC_000017.11:63940991:C:T p.(Asp1764Asn) NC_000017.11:63940991:C:T p.(Asp1764Asn) NC_000017.11:63940991:C:T Identity +NM_000289.6:c.736C>T NP_000280.1:p.Arg246Ter NC_000012.12:48134817:C:T p.(Arg246Ter) NC_000012.12:48134817:C:T p.(Arg246Ter) NC_000012.12:48134817:C:T Identity +NM_002103.5:c.405_420del NP_002094.2:p.Asp135fs NC_000019.10:48987265:TCCGATGTTGCAGGTATCC:TCC p.(Asp135GlufsTer18) NC_000019.10:48987265:TCCGATGTTGCAGGTATCC:TCC p.(Asp135GlufsTer18) NC_000019.10:48987265:TCCGATGTTGCAGGTA: Analogous +NM_000215.4:c.2390C>T NP_000206.2:p.Ala797Val NC_000019.10:17832889:G:A p.(Ala797Val) NC_000019.10:17832889:G:A p.(Ala797Val) NC_000019.10:17832889:G:A Identity +NM_002067.5:c.645G>C NP_002058.2:p.Lys215Asn NC_000019.10:3118962:G:C p.(Lys215Asn) NC_000019.10:3118962:G:C p.(Lys215Asn) NC_000019.10:3118962:G:C Identity +NM_005932.4:c.1136C>T NP_005923.3:p.Pro379Leu NC_000013.11:23841458:G:A p.(Pro379Leu) NC_000013.11:23841458:G:A p.(Pro379Leu) NC_000013.11:23841458:G:A Identity +NM_080679.3:c.2197C>T NP_542410.2:p.Arg733Trp NC_000006.12:33174021:G:A p.(Arg733Trp) NC_000006.12:33174021:G:A p.(Arg733Trp) NC_000006.12:33174021:G:A Identity +NM_001352253.3:c.107G>C NP_001339182.1:p.Gly36Ala NC_000013.11:110705986:C:G p.(Gly36Ala) NC_000013.11:110705986:C:G p.(Gly36Ala) NC_000013.11:110705986:C:G Identity +NM_001122769.3:c.37del NP_001116241.1:p.Glu13fs NC_000006.12:79518857:C: p.(Glu13LysfsTer98) NC_000006.12:79518857:C: p.(Glu13LysfsTer98) NC_000006.12:79518857:C: Analogous +NM_001382235.1:c.1289G>A NP_001369164.1:p.Arg430Gln NC_000020.11:63415084:C:T p.(Arg430Gln) NC_000020.11:63415084:C:T p.(Arg430Gln) NC_000020.11:63415084:C:T Identity +NM_000016.6:c.1175G>A NP_000007.1:p.Arg392Lys NC_000001.11:75761350:G:A p.(Arg392Lys) NC_000001.11:75761350:G:A p.(Arg392Lys) NC_000001.11:75761350:G:A Identity +NM_000391.4:c.512G>A NP_000382.3:p.Gly171Glu NC_000011.10:6617149:C:T p.(Gly171Glu) NC_000011.10:6617149:C:T p.(Gly171Glu) NC_000011.10:6617149:C:T Identity +NM_006623.4:c.13A>G NP_006614.2:p.Asn5Asp NC_000001.11:119712034:A:G p.(Asn5Asp) NC_000001.11:119712034:A:G p.(Asn5Asp) NC_000001.11:119712034:A:G Identity +NM_001130009.3:c.308A>G NP_001123481.3:p.Gln103Arg NC_000002.12:17761541:A:G p.(Gln103Arg) NC_000002.12:17761541:A:G p.(Gln103Arg) NC_000002.12:17761541:A:G Identity +NM_017802.4:c.943C>T NP_060272.3:p.Gln315Ter NC_000007.14:741383:C:T p.(Gln315Ter) NC_000007.14:741383:C:T p.(Gln315Ter) NC_000007.14:741383:C:T Identity +NM_000323.2:c.959C>G NP_000314.1:p.Pro320Arg NC_000010.11:43106466:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_024105.4:c.1460C>T NP_077010.1:p.Pro487Leu NC_000022.11:49903844:G:A p.(Pro487Leu) NC_000022.11:49903844:G:A p.(Pro487Leu) NC_000022.11:49903844:G:A Identity +NM_001363671.2:c.1338G>A NP_001350600.1:p.Trp446Ter NC_000007.14:100106836:G:A p.(Trp446Ter) NC_000007.14:100106836:G:A p.(Trp446Ter) NC_000007.14:100106836:G:A Identity +NM_001035.3:c.13897C>G NP_001026.2:p.Leu4633Val NC_000001.11:237793980:C:G p.(Leu4633Val) NC_000001.11:237793980:C:G p.(Leu4633Val) NC_000001.11:237793980:C:G Identity +NM_000057.4:c.3758T>G NP_000048.1:p.Leu1253Ter NC_000015.10:90809142:T:G p.(Leu1253Ter) NC_000015.10:90809142:T:G p.(Leu1253Ter) NC_000015.10:90809142:T:G Identity +NM_018848.3:c.1028G>A NP_061336.1:p.Ser343Asn NC_000020.11:10408760:C:T p.(Ser343Asn) NC_000020.11:10408760:C:T p.(Ser343Asn) NC_000020.11:10408760:C:T Identity +NM_000028.3:c.894_895delCTinsTC NP_000019.2:p.Trp299Arg NC_000001.11:99870804:CT:TC p.(Trp299Arg) NC_000001.11:99870804:CT:TC p.(Trp299Arg) NC_000001.11:99870804:CT:TC Identity +NM_001160036.2:c.2009G>A NP_001153508.1:p.Arg670Gln NC_000008.11:23015719:G:A p.(Arg670Gln) NC_000008.11:23015719:G:A p.(Arg670Gln) NC_000008.11:23015719:G:A Identity +NM_001282587.2:c.1228G>A NP_001269516.1:p.Val410Ile NC_000001.11:9263687:G:A p.(Val410Ile) NC_000001.11:9263687:G:A p.(Val410Ile) NC_000001.11:9263687:G:A Identity +NM_001145293.2:c.305G>A NP_001138765.1:p.Arg102His NC_000003.12:25764252:C:T p.(Arg102His) NC_000003.12:25764252:C:T p.(Arg102His) NC_000003.12:25764252:C:T Identity +NM_001098398.2:c.1786C>T NP_001091868.1:p.Pro596Ser NC_000001.11:160299172:G:A p.(Pro596Ser) NC_000001.11:160299172:G:A p.(Pro596Ser) NC_000001.11:160299172:G:A Identity +NM_001024688.3:c.229A>G NP_001019859.1:p.Ile77Val NC_000008.11:89980738:T:C p.(Ile77Val) NC_000008.11:89980738:T:C p.(Ile77Val) NC_000008.11:89980738:T:C Identity +NM_001320923.2:c.2128C>G NP_001307852.1:p.Leu710Val NC_000001.11:64844876:G:C p.(Leu710Val) NC_000001.11:64844876:G:C p.(Leu710Val) NC_000001.11:64844876:G:C Identity +NM_000135.4:c.3603A>C NP_000126.2:p.Gln1201His NC_000016.10:89744981:T:G p.(Gln1201His) NC_000016.10:89744981:T:G p.(Gln1201His) NC_000016.10:89744981:T:G Identity +NM_000135.4:c.1607C>G NP_000126.2:p.Ser536Ter NC_000016.10:89782877:G:C p.(Ser536Ter) NC_000016.10:89782877:G:C p.(Ser536Ter) NC_000016.10:89782877:G:C Identity +NM_003327.4:c.163C>T NP_003318.1:p.Arg55Cys NC_000001.11:1213767:G:A p.(Arg55Cys) NC_000001.11:1213767:G:A p.(Arg55Cys) NC_000001.11:1213767:G:A Identity +NM_001346599.2:c.439A>G NP_001333528.1:p.Lys147Glu NC_000007.14:105547066:A:G p.(Lys147Glu) NC_000007.14:105547066:A:G p.(Lys147Glu) NC_000007.14:105547066:A:G Identity +NM_006158.5:c.1595G>A NP_006149.2:p.Gly532Asp NC_000008.11:24952846:C:T p.(Gly532Asp) NC_000008.11:24952846:C:T p.(Gly532Asp) NC_000008.11:24952846:C:T Identity +NM_001005207.5:c.2022G>A NP_001005207.1:p.Met674Ile NC_000017.11:59028649:C:T p.(Met674Ile) NC_000017.11:59028649:C:T p.(Met674Ile) NC_000017.11:59028649:C:T Identity +NM_001365819.1:c.1574T>G NP_001352748.1:p.Met525Arg NC_000022.11:50464598:A:C p.(Met525Arg) NC_000022.11:50464598:A:C p.(Met525Arg) NC_000022.11:50464598:A:C Identity +NM_001288781.1:c.106dup NP_001275710.1:p.Tyr36fs NC_000014.9:88824811:TT:TTT p.(Tyr36LeufsTer2) NC_000014.9:88824811:TT:TTT p.(Tyr36LeufsTer2) ERR:SPDI Analogous +NM_001199922.2:c.1430A>T NP_001186851.1:p.Asp477Val NC_000011.10:124636987:T:A p.(Asp477Val) NC_000011.10:124636987:T:A p.(Asp477Val) NC_000011.10:124636987:T:A Identity +NM_001242921.1:c.199G>A NP_001229850.1:p.Ala67Thr NC_000020.11:45909537:C:T p.(Ala67Thr) NC_000020.11:45909537:C:T p.(Ala67Thr) NC_000020.11:45909537:C:T Identity +NM_000243.3:c.1229G>A NP_000234.1:p.Arg410His NC_000016.10:3249461:C:T p.(Arg410His) NC_000016.10:3249461:C:T p.(Arg410His) NC_000016.10:3249461:C:T Identity +NM_000548.5:c.4343G>A NP_000539.2:p.Ser1448Asn NC_000016.10:2084564:G:A p.(Ser1448Asn) NC_000016.10:2084564:G:A p.(Ser1448Asn) NC_000016.10:2084564:G:A Identity +NM_001112741.2:c.1385G>A NP_001106212.1:p.Arg462Gln NC_000011.10:17772478:G:A p.(Arg462Gln) NC_000011.10:17772478:G:A p.(Arg462Gln) NC_000011.10:17772478:G:A Identity +NM_000553.6:c.3175C>T NP_000544.2:p.Gln1059Ter NC_000008.11:31141716:C:T p.(Gln1059Ter) NC_000008.11:31141716:C:T p.(Gln1059Ter) NC_000008.11:31141716:C:T Identity +NM_032444.4:c.4445G>A NP_115820.2:p.Cys1482Tyr NC_000016.10:3589192:C:T p.(Cys1482Tyr) NC_000016.10:3589192:C:T p.(Cys1482Tyr) NC_000016.10:3589192:C:T Identity +NM_000360.4:c.398G>T NP_000351.2:p.Arg133Leu NC_000011.10:2168579:C:A p.(Arg133Leu) NC_000011.10:2168579:C:A p.(Arg133Leu) NC_000011.10:2168579:C:A Identity +NM_000760.4:c.1525C>T NP_000751.1:p.Gln509Ter NC_000001.11:36469206:G:A p.(Gln509Ter) NC_000001.11:36469206:G:A p.(Gln509Ter) NC_000001.11:36469206:G:A Identity +NM_002890.3:c.532A>T NP_002881.1:p.Thr178Ser NC_000005.10:87268982:A:T p.(Thr178Ser) NC_000005.10:87268982:A:T p.(Thr178Ser) NC_000005.10:87268982:A:T Identity +NM_001276479.2:c.2658G>T NP_001263408.1:p.Glu886Asp NC_000019.10:5692061:C:A p.(Glu886Asp) NC_000019.10:5692061:C:A p.(Glu886Asp) NC_000019.10:5692061:C:A Identity +NM_030582.4:c.299C>T NP_085059.2:p.Pro100Leu NC_000021.9:45455828:C:T p.(Pro100Leu) NC_000021.9:45455828:C:T p.(Pro100Leu) NC_000021.9:45455828:C:T Identity +NM_001304482.2:c.930G>T NP_001291411.1:p.Arg310Ser NC_000003.12:47408467:G:T p.(Arg310Ser) NC_000003.12:47408467:G:T p.(Arg310Ser) NC_000003.12:47408467:G:T Identity +NM_012281.3:c.1517T>G NP_036413.1:p.Val506Gly NC_000007.14:120745828:T:G p.(Val506Gly) NC_000007.14:120745828:T:G p.(Val506Gly) NC_000007.14:120745828:T:G Identity +NM_001031847.3:c.1946C>T NP_001027017.1:p.Thr649Ile NC_000011.10:68761616:G:A p.(Thr649Ile) NC_000011.10:68761616:G:A p.(Thr649Ile) NC_000011.10:68761616:G:A Identity +NM_144701.3:c.387T>A NP_653302.2:p.Asp129Glu NC_000001.11:67182854:T:A p.(Asp129Glu) NC_000001.11:67182854:T:A p.(Asp129Glu) NC_000001.11:67182854:T:A Identity +NM_000368.5:c.1034C>T NP_000359.1:p.Thr345Ile NC_000009.12:132911108:G:A p.(Thr345Ile) NC_000009.12:132911108:G:A p.(Thr345Ile) NC_000009.12:132911108:G:A Identity +NM_172364.5:c.1726G>C NP_758952.4:p.Glu576Gln NC_000012.12:1875330:C:G p.(Glu576Gln) NC_000012.12:1875330:C:G p.(Glu576Gln) NC_000012.12:1875330:C:G Identity +NM_013262.4:c.50T>C NP_037394.2:p.Val17Ala NC_000006.12:16129371:T:C p.(Val17Ala) NC_000006.12:16129371:T:C p.(Val17Ala) NC_000006.12:16129371:T:C Identity +NM_001304482.2:c.3524G>A NP_001291411.1:p.Arg1175His NC_000003.12:47411795:G:A p.(Arg1175His) NC_000003.12:47411795:G:A p.(Arg1175His) NC_000003.12:47411795:G:A Identity +NM_014510.3:c.9689G>A NP_055325.2:p.Arg3230His NC_000007.14:82950898:C:T p.(Arg3230His) NC_000007.14:82950898:C:T p.(Arg3230His) NC_000007.14:82950898:C:T Identity +NM_001317163.2:c.3694C>T NP_001304092.1:p.Arg1232Cys NC_000009.12:120976887:G:A p.(Arg1232Cys) NC_000009.12:120976887:G:A p.(Arg1232Cys) NC_000009.12:120976887:G:A Identity +NM_001367624.2:c.7229C>G NP_001354553.1:p.Ala2410Gly NC_000016.10:88434698:C:G p.(Ala2410Gly) NC_000016.10:88434698:C:G p.(Ala2410Gly) NC_000016.10:88434698:C:G Identity +NM_015909.4:c.646A>C NP_056993.2:p.Ser216Arg NC_000002.12:15536418:T:G p.(Ser216Arg) NC_000002.12:15536418:T:G p.(Ser216Arg) NC_000002.12:15536418:T:G Identity +NM_000051.4:c.2489T>C NP_000042.3:p.Phe830Ser NC_000011.10:108267192:T:C p.(Phe830Ser) NC_000011.10:108267192:T:C p.(Phe830Ser) NC_000011.10:108267192:T:C Identity +NM_001008537.3:c.3376G>T NP_001008537.1:p.Glu1126Ter NC_000023.11:74741180:C:A p.(Glu1126Ter) NC_000023.11:74741180:C:A p.(Glu1126Ter) NC_000023.11:74741180:C:A Identity +NM_013432.5:c.933G>A NP_038460.4:p.Met311Ile NC_000008.11:144441043:C:T p.(Met311Ile) NC_000008.11:144441043:C:T p.(Met311Ile) NC_000008.11:144441043:C:T Identity +NM_001112808.3:c.581G>A NP_001106279.3:p.Arg194His NC_000001.11:74250713:G:A p.(Arg194His) NC_000001.11:74250713:G:A p.(Arg194His) NC_000001.11:74250713:G:A Identity +NM_002427.4:c.1382G>A NP_002418.1:p.Arg461His NC_000011.10:102944299:C:T p.(Arg461His) NC_000011.10:102944299:C:T p.(Arg461His) NC_000011.10:102944299:C:T Identity +NM_001384732.1:c.9227G>C NP_001371661.1:p.Gly3076Ala NC_000005.10:37120298:C:G p.(Gly3076Ala) NC_000005.10:37120298:C:G p.(Gly3076Ala) NC_000005.10:37120298:C:G Identity +NM_001014987.2:c.337G>A NP_001014987.1:p.Glu113Lys NC_000016.10:28986565:G:A p.(Glu113Lys) NC_000016.10:28986565:G:A p.(Glu113Lys) NC_000016.10:28986565:G:A Identity +NM_001354273.2:c.1856G>C NP_001341202.1:p.Gly619Ala NC_000004.12:113282846:G:C p.(Gly619Ala) NC_000004.12:113282846:G:C p.(Gly619Ala) NC_000004.12:113282846:G:C Identity +NM_005914.4:c.2176A>G NP_005905.2:p.Met726Val NC_000008.11:47974772:A:G p.(Met726Val) NC_000008.11:47974772:A:G p.(Met726Val) NC_000008.11:47974772:A:G Identity +NM_001031714.4:c.1849A>G NP_001026884.3:p.Thr617Ala NC_000014.9:104708548:A:G p.(Thr617Ala) NC_000014.9:104708548:A:G p.(Thr617Ala) NC_000014.9:104708548:A:G Identity +NM_014714.4:c.3016G>C NP_055529.2:p.Glu1006Gln NC_000016.10:1524676:C:G p.(Glu1006Gln) NC_000016.10:1524676:C:G p.(Glu1006Gln) NC_000016.10:1524676:C:G Identity +NM_001080114.2:c.1288G>T NP_001073583.1:p.Glu430Ter NC_000010.11:86716712:G:T p.(Glu430Ter) NC_000010.11:86716712:G:T p.(Glu430Ter) NC_000010.11:86716712:G:T Identity +NM_001281737.2:c.1579G>A NP_001268666.1:p.Gly527Ser NC_000004.12:158708392:G:A p.(Gly527Ser) NC_000004.12:158708392:G:A p.(Gly527Ser) NC_000004.12:158708392:G:A Identity +NM_001042749.2:c.874G>A NP_001036214.1:p.Val292Met NC_000023.11:124049058:G:A p.(Val292Met) NC_000023.11:124049058:G:A p.(Val292Met) NC_000023.11:124049058:G:A Identity +NM_001011.4:c.311C>T NP_001002.1:p.Pro104Leu NC_000002.12:3577728:C:T p.(Pro104Leu) NC_000002.12:3577728:C:T p.(Pro104Leu) NC_000002.12:3577728:C:T Identity +NM_001164617.2:c.1708A>G NP_001158089.1:p.Asn570Asp NC_000023.11:133536227:T:C p.(Asn570Asp) NC_000023.11:133536227:T:C p.(Asn570Asp) NC_000023.11:133536227:T:C Identity +NM_001164317.2:c.2879A>G NP_001157789.1:p.Lys960Arg NC_000003.12:58121255:A:G p.(Lys960Arg) NC_000003.12:58121255:A:G p.(Lys960Arg) NC_000003.12:58121255:A:G Identity +NM_207391.3:c.135G>C NP_997274.2:p.Gln45His NC_000019.10:32676397:G:C p.(Gln45His) NC_000019.10:32676397:G:C p.(Gln45His) NC_000019.10:32676397:G:C Identity +NM_015631.6:c.1210C>T NP_056446.4:p.Leu404Phe NC_000010.11:95683188:G:A p.(Leu404Phe) NC_000010.11:95683188:G:A p.(Leu404Phe) NC_000010.11:95683188:G:A Identity +NM_001300897.2:c.62G>A NP_001287826.1:p.Arg21Gln NC_000004.12:129082345:C:T p.(Arg21Gln) NC_000004.12:129082345:C:T p.(Arg21Gln) NC_000004.12:129082345:C:T Identity +NM_014974.3:c.3113T>A NP_055789.1:p.Ile1038Lys NC_000010.11:348758:A:T p.(Ile1038Lys) NC_000010.11:348758:A:T p.(Ile1038Lys) NC_000010.11:348758:A:T Identity +NM_001386500.1:c.6256A>G NP_001373429.1:p.Arg2086Gly NC_000001.11:11127104:T:C p.(Arg2086Gly) NC_000001.11:11127104:T:C p.(Arg2086Gly) NC_000001.11:11127104:T:C Identity +NM_001166133.2:c.3896C>T NP_001159605.1:p.Thr1299Ile NC_000004.12:78387621:C:T p.(Thr1299Ile) NC_000004.12:78387621:C:T p.(Thr1299Ile) NC_000004.12:78387621:C:T Identity +NM_001270507.2:c.1703C>T NP_001257436.1:p.Ser568Leu NC_000006.12:137879147:C:T p.(Ser568Leu) NC_000006.12:137879147:C:T p.(Ser568Leu) NC_000006.12:137879147:C:T Identity +NM_000057.4:c.1685A>T NP_000048.1:p.Asp562Val NC_000015.10:90761057:A:T p.(Asp562Val) NC_000015.10:90761057:A:T p.(Asp562Val) NC_000015.10:90761057:A:T Identity +NM_004370.6:c.78C>A NP_004361.3:p.Asp26Glu NC_000006.12:75194942:G:T p.(Asp26Glu) NC_000006.12:75194942:G:T p.(Asp26Glu) NC_000006.12:75194942:G:T Identity +NM_000784.4:c.733G>A NP_000775.1:p.Gly245Arg NC_000002.12:218812637:G:A p.(Gly245Arg) NC_000002.12:218812637:G:A p.(Gly245Arg) NC_000002.12:218812637:G:A Identity +NM_001142800.2:c.697G>T NP_001136272.1:p.Glu233Ter NC_000006.12:65494713:C:A p.(Glu233Ter) NC_000006.12:65494713:C:A p.(Glu233Ter) NC_000006.12:65494713:C:A Identity +NM_000092.5:c.3923del NP_000083.3:p.Pro1308fs NC_000002.12:227030492:GGG:GG p.(Pro1308LeufsTer80) NC_000002.12:227030492:GGG:GG p.(Pro1308LeufsTer80) NC_000002.12:227030492:G: Analogous +NM_000709.4:c.277G>A NP_000700.1:p.Glu93Lys NC_000019.10:41410804:G:A p.(Glu93Lys) NC_000019.10:41410804:G:A p.(Glu93Lys) NC_000019.10:41410804:G:A Identity +NM_002439.5:c.1662G>A NP_002430.3:p.Met554Ile NC_000005.10:80744513:G:A p.(Met554Ile) NC_000005.10:80744513:G:A p.(Met554Ile) NC_000005.10:80744513:G:A Identity +NM_001017995.3:c.1648C>T NP_001017995.1:p.Arg550Trp NC_000005.10:172339456:G:A p.(Arg550Trp) NC_000005.10:172339456:G:A p.(Arg550Trp) NC_000005.10:172339456:G:A Identity +NM_000051.4:c.3625_3626insCTCA NP_000042.3:p.Phe1209fs NC_000011.10:108282758::CTCA p.(Phe1209SerfsTer21) NC_000011.10:108282757:T:CTCA p.(Phe1209SerfsTer21) NC_000011.10:108282758:TT:CTCA Analogous +NM_000416.3:c.1100C>T NP_000407.1:p.Pro367Leu NC_000006.12:137198400:G:A p.(Pro367Leu) NC_000006.12:137198400:G:A p.(Pro367Leu) NC_000006.12:137198400:G:A Identity +NM_003184.4:c.2711A>T NP_003175.2:p.Tyr904Phe NC_000008.11:119758129:T:A p.(Tyr904Phe) NC_000008.11:119758129:T:A p.(Tyr904Phe) NC_000008.11:119758129:T:A Identity +NM_004304.5:c.3101C>A NP_004295.2:p.Ser1034Ter NC_000002.12:29225531:G:T p.(Ser1034Ter) NC_000002.12:29225531:G:T p.(Ser1034Ter) NC_000002.12:29225531:G:T Identity +NM_001243766.2:c.7G>C NP_001230695.2:p.Asp3His NC_000001.11:46197814:C:G p.(Asp3His) NC_000001.11:46197814:C:G p.(Asp3His) NC_000001.11:46197814:C:G Identity +NM_000440.3:c.1855G>C NP_000431.2:p.Ala619Pro NC_000005.10:149884850:C:G p.(Ala619Pro) NC_000005.10:149884850:C:G p.(Ala619Pro) NC_000005.10:149884850:C:G Identity +NM_001144769.5:c.8517C>G NP_001138241.1:p.Ser2839Arg NC_000006.12:56555606:G:C p.(Ser2839Arg) NC_000006.12:56555606:G:C p.(Ser2839Arg) NC_000006.12:56555606:G:C Identity +NM_001041.4:c.3743C>T NP_001032.2:p.Ala1248Val NC_000003.12:165017563:G:A p.(Ala1248Val) NC_000003.12:165017563:G:A p.(Ala1248Val) NC_000003.12:165017563:G:A Identity +NM_001202470.3:c.164G>A NP_001189399.1:p.Arg55Gln NC_000006.12:34424826:C:T p.(Arg55Gln) NC_000006.12:34424826:C:T p.(Arg55Gln) NC_000006.12:34424826:C:T Identity +NM_003334.4:c.1011C>G NP_003325.2:p.His337Gln NC_000023.11:47202458:C:G p.(His337Gln) NC_000023.11:47202458:C:G p.(His337Gln) NC_000023.11:47202458:C:G Identity +NM_001306079.2:c.1547G>A NP_001293008.1:p.Arg516Gln NC_000002.12:27225169:G:A p.(Arg516Gln) NC_000002.12:27225169:G:A p.(Arg516Gln) NC_000002.12:27225169:G:A Identity +NM_001272049.2:c.287C>G NP_001258978.1:p.Ala96Gly NC_000016.10:3686020:G:C p.(Ala96Gly) NC_000016.10:3686020:G:C p.(Ala96Gly) NC_000016.10:3686020:G:C Identity +NM_000316.3:c.1069G>A NP_000307.1:p.Gly357Arg NC_000003.12:46901432:G:A p.(Gly357Arg) NC_000003.12:46901432:G:A p.(Gly357Arg) NC_000003.12:46901432:G:A Identity +NM_030662.4:c.1087C>T NP_109587.1:p.Leu363Phe NC_000019.10:4094457:G:A p.(Leu363Phe) NC_000019.10:4094457:G:A p.(Leu363Phe) NC_000019.10:4094457:G:A Identity +NM_001144769.5:c.15457G>C NP_001138241.1:p.Val5153Leu NC_000006.12:56476198:C:G p.(Val5153Leu) NC_000006.12:56476198:C:G p.(Val5153Leu) NC_000006.12:56476198:C:G Identity +NM_000301.5:c.505C>A NP_000292.1:p.Pro169Thr NC_000006.12:160713082:C:A p.(Pro169Thr) NC_000006.12:160713082:C:A p.(Pro169Thr) NC_000006.12:160713082:C:A Identity +NM_000527.5:c.781T>A NP_000518.1:p.Cys261Ser NC_000019.10:11106650:T:A p.(Cys261Ser) NC_000019.10:11106650:T:A p.(Cys261Ser) NC_000019.10:11106650:T:A Identity +NM_001306079.2:c.1130G>A NP_001293008.1:p.Arg377His NC_000002.12:27224365:G:A p.(Arg377His) NC_000002.12:27224365:G:A p.(Arg377His) NC_000002.12:27224365:G:A Identity +NM_001098511.3:c.1721CTT[1] NP_001091981.1:p.Ser575del NC_000005.10:62372511:CTTCTT:CTT p.(Ser575del) NC_000005.10:62372511:C:CTT ERR:Parse ERR:Parse Identity +NM_001172810.3:c.246_250del NP_001166281.1:p.Lys83fs NC_000017.11:74285101:CAAGG: p.(Lys83ArgfsTer20) NC_000017.11:74285101:CAAGG: p.(Lys83ArgfsTer20) NC_000017.11:74285101:CAAGG: Analogous +NM_001190983.2:c.300_325del NP_001177912.1:p.Val101fs NC_000016.10:19075762:GCACCGTGGCGGTGGAAGAGAGCATAGCAC:GCAC p.(Val101SerfsTer15) NC_000016.10:19075762:GCACCGTGGCGGTGGAAGAGAGCATAGCAC:GCAC p.(Val101SerfsTer15) NC_000016.10:19075766:CGTGGCGGTGGAAGAGAGCATAGCAC: Analogous +NM_001290307.3:c.1502C>T NP_001277236.1:p.Ala501Val NC_000005.10:138917853:C:T p.(Ala501Val) NC_000005.10:138917853:C:T p.(Ala501Val) NC_000005.10:138917853:C:T Identity +NM_001014987.2:c.158G>A NP_001014987.1:p.Arg53Gln NC_000016.10:28985882:G:A p.(Arg53Gln) NC_000016.10:28985882:G:A p.(Arg53Gln) NC_000016.10:28985882:G:A Identity +NM_000138.5:c.392A>G NP_000129.3:p.Asp131Gly NC_000015.10:48600188:T:C p.(Asp131Gly) NC_000015.10:48600188:T:C p.(Asp131Gly) NC_000015.10:48600188:T:C Identity +NM_207346.3:c.989G>A NP_997229.2:p.Arg330Gln NC_000017.11:75522069:G:A p.(Arg330Gln) NC_000017.11:75522069:G:A p.(Arg330Gln) NC_000017.11:75522069:G:A Identity +NM_024652.6:c.5802G>T NP_078928.3:p.Glu1934Asp NC_000015.10:101066672:G:T p.(Glu1934Asp) NC_000015.10:101066672:G:T p.(Glu1934Asp) NC_000015.10:101066672:G:T Identity +NM_000532.5:c.197C>T NP_000523.2:p.Ala66Val NC_000003.12:136255868:C:T p.(Ala66Val) NC_000003.12:136255868:C:T p.(Ala66Val) NC_000003.12:136255868:C:T Identity +NM_015072.5:c.2711C>T NP_055887.3:p.Thr904Ile NC_000014.9:75783254:C:T p.(Thr904Ile) NC_000014.9:75783254:C:T p.(Thr904Ile) NC_000014.9:75783254:C:T Identity +NM_001171.6:c.2409G>C NP_001162.5:p.Gln803His NC_000016.10:16178803:C:G p.(Gln803His) NC_000016.10:16178803:C:G p.(Gln803His) NC_000016.10:16178803:C:G Identity +NM_001128148.3:c.1690C>T NP_001121620.1:p.Pro564Ser NC_000003.12:196055288:G:A p.(Pro564Ser) NC_000003.12:196055288:G:A p.(Pro564Ser) NC_000003.12:196055288:G:A Identity +NM_002386.4:c.406G>T NP_002377.4:p.Gly136Cys NC_000016.10:89919663:G:T p.(Gly136Cys) NC_000016.10:89919663:G:T p.(Gly136Cys) NC_000016.10:89919663:G:T Identity +NM_001329556.3:c.412C>T NP_001316485.1:p.Arg138Cys NC_000019.10:1496347:C:T p.(Arg138Cys) NC_000019.10:1496347:C:T p.(Arg138Cys) NC_000019.10:1496347:C:T Identity +NM_001184985.2:c.4288C>G NP_001171914.1:p.Leu1430Val NC_000012.12:883412:C:G p.(Leu1430Val) NC_000012.12:883412:C:G p.(Leu1430Val) NC_000012.12:883412:C:G Identity +NM_003482.4:c.12053C>T NP_003473.3:p.Thr4018Ile NC_000012.12:49032651:G:A p.(Thr4018Ile) NC_000012.12:49032651:G:A p.(Thr4018Ile) NC_000012.12:49032651:G:A Identity +NM_001203.3:c.1081A>G NP_001194.1:p.Thr361Ala NC_000004.12:95148751:A:G p.(Thr361Ala) NC_000004.12:95148751:A:G p.(Thr361Ala) NC_000004.12:95148751:A:G Identity +NM_001853.4:c.1654T>C NP_001844.3:p.Ser552Pro NC_000020.11:62837132:T:C p.(Ser552Pro) NC_000020.11:62837132:T:C p.(Ser552Pro) NC_000020.11:62837132:T:C Identity +NM_001567.4:c.3097C>T NP_001558.3:p.Arg1033Cys NC_000011.10:72237340:C:T p.(Arg1033Cys) NC_000011.10:72237340:C:T p.(Arg1033Cys) NC_000011.10:72237340:C:T Identity +NM_022726.4:c.766A>G NP_073563.1:p.Ile256Val NC_000006.12:79916786:T:C p.(Ile256Val) NC_000006.12:79916786:T:C p.(Ile256Val) NC_000006.12:79916786:T:C Identity +NM_001378761.1:c.2551G>A NP_001365690.1:p.Gly851Ser NC_000011.10:121125691:G:A p.(Gly851Ser) NC_000011.10:121125691:G:A p.(Gly851Ser) NC_000011.10:121125691:G:A Identity +NM_001304438.2:c.3181C>G NP_001291367.1:p.Pro1061Ala NC_000017.11:34638187:C:G p.(Pro1061Ala) NC_000017.11:34638187:C:G p.(Pro1061Ala) NC_000017.11:34638187:C:G Identity +NM_012203.2:c.119T>C NP_036335.1:p.Ile40Thr NC_000009.12:37424879:T:C p.(Ile40Thr) NC_000009.12:37424879:T:C p.(Ile40Thr) NC_000009.12:37424879:T:C Identity +NM_000124.4:c.1378T>G NP_000115.1:p.Tyr460Asp NC_000010.11:49524051:A:C p.(Tyr460Asp) NC_000010.11:49524051:A:C p.(Tyr460Asp) NC_000010.11:49524051:A:C Identity +NM_005876.5:c.7180G>A NP_005867.3:p.Val2394Met NC_000002.12:219484642:G:A p.(Val2394Met) NC_000002.12:219484642:G:A p.(Val2394Met) NC_000002.12:219484642:G:A Identity +NM_001004334.4:c.1906G>C NP_001004334.3:p.Ala636Pro NC_000017.11:38333381:C:G p.(Ala636Pro) NC_000017.11:38333381:C:G p.(Ala636Pro) NC_000017.11:38333381:C:G Identity +NM_000520.6:c.132T>G NP_000511.2:p.Phe44Leu NC_000015.10:72375840:A:C p.(Phe44Leu) NC_000015.10:72375840:A:C p.(Phe44Leu) NC_000015.10:72375840:A:C Identity +NM_000234.3:c.547A>G NP_000225.1:p.Thr183Ala NC_000019.10:48151258:T:C p.(Thr183Ala) NC_000019.10:48151258:T:C p.(Thr183Ala) NC_000019.10:48151258:T:C Identity +NM_001942.4:c.176G>A NP_001933.2:p.Arg59His NC_000018.10:31326964:G:A p.(Arg59His) NC_000018.10:31326964:G:A p.(Arg59His) NC_000018.10:31326964:G:A Identity +NM_001267727.2:c.470T>A NP_001254656.1:p.Phe157Tyr NC_000017.11:68351589:T:A p.(Phe157Tyr) NC_000017.11:68351589:T:A p.(Phe157Tyr) NC_000017.11:68351589:T:A Identity +NM_015512.5:c.6860G>A NP_056327.4:p.Arg2287His NC_000003.12:52372927:G:A p.(Arg2287His) NC_000003.12:52372927:G:A p.(Arg2287His) NC_000003.12:52372927:G:A Identity +NM_000337.6:c.590C>G NP_000328.2:p.Thr197Ser NC_000005.10:156757594:C:G p.(Thr197Ser) NC_000005.10:156757594:C:G p.(Thr197Ser) NC_000005.10:156757594:C:G Identity +NM_001291866.2:c.269G>A NP_001278795.1:p.Arg90Gln NC_000001.11:230236021:G:A p.(Arg90Gln) NC_000001.11:230236021:G:A p.(Arg90Gln) NC_000001.11:230236021:G:A Identity +NM_014053.4:c.1367C>G NP_054772.1:p.Pro456Arg NC_000001.11:212888547:C:G p.(Pro456Arg) NC_000001.11:212888547:C:G p.(Pro456Arg) NC_000001.11:212888547:C:G Identity +NM_033087.4:c.145A>G NP_149078.1:p.Ile49Val NC_000009.12:99221749:T:C p.(Ile49Val) NC_000009.12:99221749:T:C p.(Ile49Val) NC_000009.12:99221749:T:C Identity +NM_000028.3:c.757G>C NP_000019.2:p.Ala253Pro NC_000001.11:99870491:G:C p.(Ala253Pro) NC_000001.11:99870491:G:C p.(Ala253Pro) NC_000001.11:99870491:G:C Identity +NM_001080463.2:c.12031C>T NP_001073932.1:p.Arg4011Cys NC_000011.10:103323960:C:T p.(Arg4011Cys) NC_000011.10:103323960:C:T p.(Arg4011Cys) NC_000011.10:103323960:C:T Identity +NM_018451.5:c.1818G>C NP_060921.3:p.Gln606His NC_000013.11:24906219:C:G p.(Gln606His) NC_000013.11:24906219:C:G p.(Gln606His) NC_000013.11:24906219:C:G Identity +NM_003823.4:c.302A>C NP_003814.1:p.Glu101Ala NC_000020.11:63697068:A:C p.(Glu101Ala) NC_000020.11:63697068:A:C p.(Glu101Ala) NC_000020.11:63697068:A:C Identity +NM_001378454.1:c.7750A>G NP_001365383.1:p.Lys2584Glu NC_000002.12:73489708:A:G p.(Lys2584Glu) NC_000002.12:73489708:A:G p.(Lys2584Glu) NC_000002.12:73489708:A:G Identity +NM_001252127.2:c.335A>G NP_001239056.1:p.Lys112Arg NC_000015.10:50929025:A:G p.(Lys112Arg) NC_000015.10:50929025:A:G p.(Lys112Arg) NC_000015.10:50929025:A:G Identity +NM_000059.4:c.9170T>G NP_000050.3:p.Phe3057Cys NC_000013.11:32380058:T:G p.(Phe3057Cys) NC_000013.11:32380058:T:G p.(Phe3057Cys) NC_000013.11:32380058:T:G Identity +NM_020919.4:c.1265T>C NP_065970.2:p.Met422Thr NC_000002.12:201757607:A:G p.(Met422Thr) NC_000002.12:201757607:A:G p.(Met422Thr) NC_000002.12:201757607:A:G Identity +NM_001385640.1:c.913C>T NP_001372569.1:p.Gln305Ter NC_000001.11:935841:C:T p.(Gln305Ter) NC_000001.11:935841:C:T p.(Gln305Ter) NC_000001.11:935841:C:T Identity +NM_001112808.3:c.2413G>A NP_001106279.3:p.Ala805Thr NC_000001.11:74463538:G:A p.(Ala805Thr) NC_000001.11:74463538:G:A p.(Ala805Thr) NC_000001.11:74463538:G:A Identity +NM_025136.4:c.514C>T NP_079412.1:p.His172Tyr NC_000019.10:45553539:G:A p.(His172Tyr) NC_000019.10:45553539:G:A p.(His172Tyr) NC_000019.10:45553539:G:A Identity +NM_001367830.1:c.428G>T NP_001354759.1:p.Arg143Leu NC_000019.10:11252197:C:A p.(Arg143Leu) NC_000019.10:11252197:C:A p.(Arg143Leu) NC_000019.10:11252197:C:A Identity +NM_000444.6:c.1735G>T NP_000435.3:p.Gly579Ter NC_000023.11:22219069:G:T p.(Gly579Ter) NC_000023.11:22219069:G:T p.(Gly579Ter) NC_000023.11:22219069:G:T Identity +NM_001316327.2:c.892G>A NP_001303256.1:p.Ala298Thr NC_000003.12:53185606:G:A p.(Ala298Thr) NC_000003.12:53185606:G:A p.(Ala298Thr) NC_000003.12:53185606:G:A Identity +NM_014989.7:c.1408C>T NP_055804.2:p.Leu470Phe NC_000006.12:72182878:C:T p.(Leu470Phe) NC_000006.12:72182878:C:T p.(Leu470Phe) NC_000006.12:72182878:C:T Identity +NM_001852.4:c.1733C>T NP_001843.1:p.Pro578Leu NC_000001.11:40302679:G:A p.(Pro578Leu) NC_000001.11:40302679:G:A p.(Pro578Leu) NC_000001.11:40302679:G:A Identity +NM_001111034.3:c.434A>T NP_001104504.1:p.Gln145Leu NC_000019.10:11576543:T:A p.(Gln145Leu) NC_000019.10:11576543:T:A p.(Gln145Leu) NC_000019.10:11576543:T:A Identity +NM_007129.5:c.683C>G NP_009060.2:p.Ala228Gly NC_000013.11:99982746:C:G p.(Ala228Gly) NC_000013.11:99982746:C:G p.(Ala228Gly) NC_000013.11:99982746:C:G Identity +NM_178170.3:c.857C>G NP_835464.1:p.Thr286Arg NC_000017.11:28737703:C:G p.(Thr286Arg) NC_000017.11:28737703:C:G p.(Thr286Arg) NC_000017.11:28737703:C:G Identity +NM_144643.4:c.1571G>A NP_653244.2:p.Arg524Gln NC_000004.12:128943056:C:T p.(Arg524Gln) NC_000004.12:128943056:C:T p.(Arg524Gln) NC_000004.12:128943056:C:T Identity +NM_001352019.2:c.114C>G NP_001338948.1:p.Asn38Lys NC_000016.10:954418:G:C p.(Asn38Lys) NC_000016.10:954418:G:C p.(Asn38Lys) NC_000016.10:954418:G:C Identity +NM_001081955.3:c.992C>A NP_001075424.1:p.Ala331Asp NC_000017.11:65202016:C:A p.(Ala331Asp) NC_000017.11:65202016:C:A p.(Ala331Asp) NC_000017.11:65202016:C:A Identity +NM_000038.6:c.4077A>T NP_000029.2:p.Lys1359Asn NC_000005.10:112839670:A:T p.(Lys1359Asn) NC_000005.10:112839670:A:T p.(Lys1359Asn) NC_000005.10:112839670:A:T Identity +NM_001386339.1:c.1822T>G NP_001373268.1:p.Phe608Val NC_000011.10:9961994:A:C p.(Phe608Val) NC_000011.10:9961994:A:C p.(Phe608Val) NC_000011.10:9961994:A:C Identity +NM_001042692.3:c.1672A>C NP_001036157.1:p.Asn558His NC_000002.12:63153503:T:G p.(Asn558His) NC_000002.12:63153503:T:G p.(Asn558His) NC_000002.12:63153503:T:G Identity +NM_001364442.2:c.589G>A NP_001351371.1:p.Asp197Asn NC_000005.10:7878130:G:A p.(Asp197Asn) NC_000005.10:7878130:G:A p.(Asp197Asn) NC_000005.10:7878130:G:A Identity +NM_001189.4:c.224C>T NP_001180.1:p.Ala75Val NC_000004.12:13544190:G:A p.(Ala75Val) NC_000004.12:13544190:G:A p.(Ala75Val) NC_000004.12:13544190:G:A Identity +NM_001142301.1:c.2092C>G NP_001135773.1:p.Leu698Val NC_000008.11:93804773:C:G p.(Leu698Val) NC_000008.11:93804773:C:G p.(Leu698Val) NC_000008.11:93804773:C:G Identity +NM_015560.3:c.289C>G NP_056375.2:p.Leu97Val NC_000003.12:193614978:C:G p.(Leu97Val) NC_000003.12:193614978:C:G p.(Leu97Val) NC_000003.12:193614978:C:G Identity +NM_001100913.3:c.1502C>T NP_001094383.2:p.Ser501Leu NC_000014.9:105382564:C:T p.(Ser501Leu) NC_000014.9:105382564:C:T p.(Ser501Leu) NC_000014.9:105382564:C:T Identity +NM_001271440.2:c.145G>A NP_001258369.1:p.Val49Ile NC_000021.9:44333260:C:T p.(Val49Ile) NC_000021.9:44333260:C:T p.(Val49Ile) NC_000021.9:44333260:C:T Identity +NM_001320252.2:c.253C>T NP_001307181.1:p.Arg85Cys NC_000001.11:170552069:C:T p.(Arg85Cys) NC_000001.11:170552069:C:T p.(Arg85Cys) NC_000001.11:170552069:C:T Identity +NM_000527.5:c.44T>G NP_000518.1:p.Leu15Arg NC_000019.10:11089591:T:G p.(Leu15Arg) NC_000019.10:11089591:T:G p.(Leu15Arg) NC_000019.10:11089591:T:G Identity +NM_001082537.3:c.782C>G NP_001076006.1:p.Ala261Gly NC_000012.12:110634738:C:G p.(Ala261Gly) NC_000012.12:110634738:C:G p.(Ala261Gly) NC_000012.12:110634738:C:G Identity +NM_005876.5:c.9781C>T NP_005867.3:p.Arg3261Cys NC_000002.12:219492762:C:T p.(Arg3261Cys) NC_000002.12:219492762:C:T p.(Arg3261Cys) NC_000002.12:219492762:C:T Identity +NM_000321.3:c.1779T>A NP_000312.2:p.Asn593Lys NC_000013.11:48453075:T:A p.(Asn593Lys) NC_000013.11:48453075:T:A p.(Asn593Lys) NC_000013.11:48453075:T:A Identity +NM_001256850.1:c.99551C>G NP_001243779.1:p.Ala33184Gly NC_000002.12:178532140:G:C p.(Ala33184Gly) NC_000002.12:178532140:G:C p.(Ala33184Gly) NC_000002.12:178532140:G:C Identity +NM_000321.3:c.1780C>T NP_000312.2:p.Leu594Phe NC_000013.11:48453076:C:T p.(Leu594Phe) NC_000013.11:48453076:C:T p.(Leu594Phe) NC_000013.11:48453076:C:T Identity +NM_033071.5:c.5002G>A NP_149062.2:p.Glu1668Lys NC_000006.12:152427811:C:T p.(Glu1668Lys) NC_000006.12:152427811:C:T p.(Glu1668Lys) NC_000006.12:152427811:C:T Identity +NM_001291556.2:c.1434C>G NP_001278485.1:p.Ser478Arg NC_000014.9:24103876:C:G p.(Ser478Arg) NC_000014.9:24103876:C:G p.(Ser478Arg) NC_000014.9:24103876:C:G Identity +NM_001127198.5:c.1177C>T NP_001120670.1:p.Gln393Ter NC_000017.11:78122654:G:A p.(Gln393Ter) NC_000017.11:78122654:G:A p.(Gln393Ter) NC_000017.11:78122654:G:A Identity +NM_001376.5:c.13091C>T NP_001367.2:p.Thr4364Met NC_000014.9:102047900:C:T p.(Thr4364Met) NC_000014.9:102047900:C:T p.(Thr4364Met) NC_000014.9:102047900:C:T Identity +NM_001271620.2:c.1799G>A NP_001258549.1:p.Arg600Gln NC_000016.10:49637172:C:T p.(Arg600Gln) NC_000016.10:49637172:C:T p.(Arg600Gln) NC_000016.10:49637172:C:T Identity +NM_174916.3:c.2405A>G NP_777576.1:p.Asn802Ser NC_000015.10:43027802:T:C p.(Asn802Ser) NC_000015.10:43027802:T:C p.(Asn802Ser) NC_000015.10:43027802:T:C Identity +NM_001320632.2:c.637A>G NP_001307561.1:p.Ser213Gly NC_000002.12:127063614:T:C p.(Ser213Gly) NC_000002.12:127063614:T:C p.(Ser213Gly) NC_000002.12:127063614:T:C Identity +NM_001243776.2:c.601A>G NP_001230705.1:p.Met201Val NC_000011.10:95818832:A:G p.(Met201Val) NC_000011.10:95818832:A:G p.(Met201Val) NC_000011.10:95818832:A:G Identity +NM_001845.6:c.1772T>C NP_001836.3:p.Val591Ala NC_000013.11:110186509:A:G p.(Val591Ala) NC_000013.11:110186509:A:G p.(Val591Ala) NC_000013.11:110186509:A:G Identity +NM_000076.2:c.881C>G NP_000067.1:p.Pro294Arg NC_000011.10:2884073:G:C p.(Pro294Arg) NC_000011.10:2884073:G:C p.(Pro294Arg) NC_000011.10:2884073:G:C Identity +NM_001363711.2:c.2031G>C NP_001350640.1:p.Arg677Ser NC_000015.10:45106241:C:G p.(Arg677Ser) NC_000015.10:45106241:C:G p.(Arg677Ser) NC_000015.10:45106241:C:G Identity +NM_001942.4:c.2570G>A NP_001933.2:p.Arg857Gln NC_000018.10:31354765:G:A p.(Arg857Gln) NC_000018.10:31354765:G:A p.(Arg857Gln) NC_000018.10:31354765:G:A Identity +NM_001199107.2:c.793G>T NP_001186036.1:p.Val265Leu NC_000016.10:2496940:G:T p.(Val265Leu) NC_000016.10:2496940:G:T p.(Val265Leu) NC_000016.10:2496940:G:T Identity +NM_001145661.2:c.484A>G NP_001139133.1:p.Thr162Ala NC_000003.12:128486113:T:C p.(Thr162Ala) NC_000003.12:128486113:T:C p.(Thr162Ala) NC_000003.12:128486113:T:C Identity +NM_001128204.2:c.197C>T NP_001121676.1:p.Thr66Met NC_000008.11:69575993:C:T p.(Thr66Met) NC_000008.11:69575993:C:T p.(Thr66Met) NC_000008.11:69575993:C:T Identity +NM_001846.4:c.4534T>C NP_001837.2:p.Trp1512Arg NC_000013.11:110506545:T:C p.(Trp1512Arg) NC_000013.11:110506545:T:C p.(Trp1512Arg) NC_000013.11:110506545:T:C Identity +NM_001144769.5:c.5198G>A NP_001138241.1:p.Arg1733His NC_000006.12:56600207:C:T p.(Arg1733His) NC_000006.12:56600207:C:T p.(Arg1733His) NC_000006.12:56600207:C:T Identity +NM_006361.6:c.663T>G NP_006352.2:p.Ile221Met NC_000017.11:48726981:A:C p.(Ile221Met) NC_000017.11:48726981:A:C p.(Ile221Met) NC_000017.11:48726981:A:C Identity +NM_001318154.2:c.1553A>G NP_001305083.1:p.Lys518Arg NC_000010.11:63214067:T:C p.(Lys518Arg) NC_000010.11:63214067:T:C p.(Lys518Arg) NC_000010.11:63214067:T:C Identity +NM_001160130.2:c.2012C>A NP_001153602.1:p.Thr671Asn NC_000006.12:73194653:C:A p.(Thr671Asn) NC_000006.12:73194653:C:A p.(Thr671Asn) NC_000006.12:73194653:C:A Identity +NM_004714.3:c.1159G>A NP_004705.1:p.Gly387Arg NC_000019.10:39826923:C:T p.(Gly387Arg) NC_000019.10:39826923:C:T p.(Gly387Arg) NC_000019.10:39826923:C:T Identity +NM_014639.4:c.1784C>T NP_055454.1:p.Pro595Leu NC_000005.10:95522280:G:A p.(Pro595Leu) NC_000005.10:95522280:G:A p.(Pro595Leu) NC_000005.10:95522280:G:A Identity +NM_006393.3:c.1961A>T NP_006384.1:p.Asn654Ile NC_000010.11:20823208:T:A p.(Asn654Ile) NC_000010.11:20823208:T:A p.(Asn654Ile) NC_000010.11:20823208:T:A Identity +NM_018706.7:c.965G>C NP_061176.4:p.Gly322Ala NC_000010.11:12089232:G:C p.(Gly322Ala) NC_000010.11:12089232:G:C p.(Gly322Ala) NC_000010.11:12089232:G:C Identity +NM_000124.4:c.410T>C NP_000115.1:p.Leu137Pro NC_000010.11:49532554:A:G p.(Leu137Pro) NC_000010.11:49532554:A:G p.(Leu137Pro) NC_000010.11:49532554:A:G Identity +NM_001256850.1:c.100304C>T NP_001243779.1:p.Ser33435Leu NC_000002.12:178531387:G:A p.(Ser33435Leu) NC_000002.12:178531387:G:A p.(Ser33435Leu) NC_000002.12:178531387:G:A Identity +NM_000018.4:c.1745T>C NP_000009.1:p.Leu582Pro NC_000017.11:7224707:T:C p.(Leu582Pro) NC_000017.11:7224707:T:C p.(Leu582Pro) NC_000017.11:7224707:T:C Identity +NM_033087.4:c.162C>A NP_149078.1:p.Tyr54Ter NC_000009.12:99221732:G:T p.(Tyr54Ter) NC_000009.12:99221732:G:T p.(Tyr54Ter) NC_000009.12:99221732:G:T Identity +NM_000162.5:c.501G>A NP_000153.1:p.Trp167Ter NC_000007.14:44150046:C:T p.(Trp167Ter) NC_000007.14:44150046:C:T p.(Trp167Ter) NC_000007.14:44150046:C:T Identity +NM_000057.4:c.2369C>T NP_000048.1:p.Ala790Val NC_000015.10:90769193:C:T p.(Ala790Val) NC_000015.10:90769193:C:T p.(Ala790Val) NC_000015.10:90769193:C:T Identity +NM_001276479.2:c.1241T>C NP_001263408.1:p.Leu414Pro NC_000019.10:5700861:A:G p.(Leu414Pro) NC_000019.10:5700861:A:G p.(Leu414Pro) NC_000019.10:5700861:A:G Identity +NM_003906.5:c.2592C>G NP_003897.2:p.Tyr864Ter NC_000021.9:46270436:G:C p.(Tyr864Ter) NC_000021.9:46270436:G:C p.(Tyr864Ter) NC_000021.9:46270436:G:C Identity +NM_001131015.2:c.861G>A NP_001124487.1:p.Met287Ile NC_000009.12:128179345:C:T p.(Met287Ile) NC_000009.12:128179345:C:T p.(Met287Ile) NC_000009.12:128179345:C:T Identity +NM_001319074.4:c.334C>T NP_001306003.2:p.Pro112Ser NC_000019.10:3770841:G:A p.(Pro112Ser) NC_000019.10:3770841:G:A p.(Pro112Ser) NC_000019.10:3770841:G:A Identity +NM_000057.4:c.3160T>G NP_000048.1:p.Phe1054Val NC_000015.10:90794306:T:G p.(Phe1054Val) NC_000015.10:90794306:T:G p.(Phe1054Val) NC_000015.10:90794306:T:G Identity +NM_001165963.4:c.4588T>C NP_001159435.1:p.Phe1530Leu NC_000002.12:165994409:A:G p.(Phe1530Leu) NC_000002.12:165994409:A:G p.(Phe1530Leu) NC_000002.12:165994409:A:G Identity +NM_015346.4:c.2909C>G NP_056161.2:p.Pro970Arg NC_000014.9:67789444:G:C p.(Pro970Arg) NC_000014.9:67789444:G:C p.(Pro970Arg) NC_000014.9:67789444:G:C Identity +NM_001378454.1:c.1291G>T NP_001365383.1:p.Glu431Ter NC_000002.12:73426505:G:T p.(Glu431Ter) NC_000002.12:73426505:G:T p.(Glu431Ter) NC_000002.12:73426505:G:T Identity +NM_012452.3:c.121G>C NP_036584.1:p.Asp41His NC_000017.11:16952523:C:G p.(Asp41His) NC_000017.11:16952523:C:G p.(Asp41His) NC_000017.11:16952523:C:G Identity +NM_001363729.2:c.443A>G NP_001350658.1:p.Lys148Arg NC_000020.11:36935094:T:C p.(Lys148Arg) NC_000020.11:36935094:T:C p.(Lys148Arg) NC_000020.11:36935094:T:C Identity +NM_001284351.3:c.71G>A NP_001271280.1:p.Arg24Gln NC_000005.10:524251:C:T p.(Arg24Gln) NC_000005.10:524251:C:T p.(Arg24Gln) NC_000005.10:524251:C:T Identity +NM_002334.4:c.83G>A NP_002325.2:p.Gly28Asp NC_000011.10:46902898:C:T p.(Gly28Asp) NC_000011.10:46902898:C:T p.(Gly28Asp) NC_000011.10:46902898:C:T Identity +NM_001346897.2:c.1903C>T NP_001333826.1:p.Arg635Trp NC_000007.14:55173100:C:T p.(Arg635Trp) NC_000007.14:55173100:C:T p.(Arg635Trp) NC_000007.14:55173100:C:T Identity +NM_000548.5:c.1132C>G NP_000539.2:p.Pro378Ala NC_000016.10:2061882:C:G p.(Pro378Ala) NC_000016.10:2061882:C:G p.(Pro378Ala) NC_000016.10:2061882:C:G Identity +NM_000264.5:c.2607G>A NP_000255.2:p.Met869Ile NC_000009.12:95461951:C:T p.(Met869Ile) NC_000009.12:95461951:C:T p.(Met869Ile) NC_000009.12:95461951:C:T Identity +NM_001378454.1:c.3557_3564del NP_001365383.1:p.Arg1186fs NC_000002.12:73450083:GAGTACTT: p.(Arg1186IlefsTer21) NC_000002.12:73450083:GAGTACTT: p.(Arg1186IlefsTer21) NC_000002.12:73450083:GAGTACTT: Analogous +NM_001164507.2:c.21609G>C NP_001157979.2:p.Lys7203Asn NC_000002.12:151531014:C:G p.(Lys7203Asn) NC_000002.12:151531014:C:G p.(Lys7203Asn) NC_000002.12:151531014:C:G Identity +NM_001174098.2:c.550_551delinsCC NP_001167569.1:p.Ser184Pro NC_000010.11:71351727:AG:CC p.(Ser184Pro) NC_000010.11:71351727:AG:CC p.(Ser184Pro) NC_000010.11:71351727:AG:CC Identity +NM_000179.3:c.1495A>C NP_000170.1:p.Met499Leu NC_000002.12:47799477:A:C p.(Met499Leu) NC_000002.12:47799477:A:C p.(Met499Leu) NC_000002.12:47799477:A:C Identity +NM_000329.3:c.220G>A NP_000320.1:p.Glu74Lys NC_000001.11:68446734:C:T p.(Glu74Lys) NC_000001.11:68446734:C:T p.(Glu74Lys) NC_000001.11:68446734:C:T Identity +NM_001308122.2:c.1466T>G NP_001295051.1:p.Val489Gly NC_000005.10:132392558:T:G p.(Val489Gly) NC_000005.10:132392558:T:G p.(Val489Gly) NC_000005.10:132392558:T:G Identity +NM_000372.5:c.892C>T NP_000363.1:p.Arg298Trp NC_000011.10:89191273:C:T p.(Arg298Trp) NC_000011.10:89191273:C:T p.(Arg298Trp) NC_000011.10:89191273:C:T Identity +NM_021942.6:c.1612C>T NP_068761.4:p.Leu538Phe NC_000004.12:183685127:C:T p.(Leu538Phe) NC_000004.12:183685127:C:T p.(Leu538Phe) NC_000004.12:183685127:C:T Identity +NM_001145873.1:c.221C>T NP_001139345.1:p.Ser74Phe NC_000002.12:86790509:G:A p.(Ser74Phe) NC_000002.12:86790509:G:A p.(Ser74Phe) NC_000002.12:86790509:G:A Identity +NM_000091.5:c.1054G>T NP_000082.2:p.Glu352Ter NC_000002.12:227259816:G:T p.(Glu352Ter) NC_000002.12:227259816:G:T p.(Glu352Ter) NC_000002.12:227259816:G:T Identity +NM_058216.3:c.407T>G NP_478123.1:p.Met136Arg NC_000017.11:58696694:T:G p.(Met136Arg) NC_000017.11:58696694:T:G p.(Met136Arg) NC_000017.11:58696694:T:G Identity +NM_001161520.2:c.614G>A NP_001154992.2:p.Arg205Gln NC_000007.14:107412556:C:T p.(Arg205Gln) NC_000007.14:107412556:C:T p.(Arg205Gln) NC_000007.14:107412556:C:T Identity +NM_001129.5:c.145C>T NP_001120.3:p.Pro49Ser NC_000007.14:44104809:C:T p.(Pro49Ser) NC_000007.14:44104809:C:T p.(Pro49Ser) NC_000007.14:44104809:C:T Identity +NM_001033855.3:c.276G>C NP_001029027.1:p.Gln92His NC_000010.11:14939839:C:G p.(Gln92His) NC_000010.11:14939839:C:G p.(Gln92His) NC_000010.11:14939839:C:G Identity +NM_001130865.3:c.121C>G NP_001124337.1:p.Pro41Ala NC_000009.12:1051733:C:G p.(Pro41Ala) NC_000009.12:1051733:C:G p.(Pro41Ala) NC_000009.12:1051733:C:G Identity +NM_001367624.2:c.9327G>C NP_001354553.1:p.Lys3109Asn NC_000016.10:88436796:G:C p.(Lys3109Asn) NC_000016.10:88436796:G:C p.(Lys3109Asn) NC_000016.10:88436796:G:C Identity +NM_000222.3:c.1176C>A NP_000213.1:p.Phe392Leu NC_000004.12:54709483:C:A p.(Phe392Leu) NC_000004.12:54709483:C:A p.(Phe392Leu) NC_000004.12:54709483:C:A Identity +NM_001303249.3:c.358T>C NP_001290178.1:p.Cys120Arg NC_000005.10:110743760:T:C p.(Cys120Arg) NC_000005.10:110743760:T:C p.(Cys120Arg) NC_000005.10:110743760:T:C Identity +NM_000074.3:c.376G>T NP_000065.1:p.Val126Phe NC_000023.11:136656384:G:T p.(Val126Phe) NC_000023.11:136656384:G:T p.(Val126Phe) NC_000023.11:136656384:G:T Identity +NM_000935.3:c.4G>C NP_000926.2:p.Gly2Arg NC_000003.12:146160985:C:G p.(Gly2Arg) NC_000003.12:146160985:C:G p.(Gly2Arg) NC_000003.12:146160985:C:G Identity +NM_001326358.2:c.2698G>A NP_001313287.1:p.Val900Met NC_000016.10:77291453:C:T p.(Val900Met) NC_000016.10:77291453:C:T p.(Val900Met) NC_000016.10:77291453:C:T Identity +NM_001261826.3:c.2000G>A NP_001248755.1:p.Arg667Gln NC_000019.10:2116605:C:T p.(Arg667Gln) NC_000019.10:2116605:C:T p.(Arg667Gln) NC_000019.10:2116605:C:T Identity +NM_000086.2:c.538G>A NP_000077.1:p.Val180Met NC_000016.10:28486485:C:T p.(Val180Met) NC_000016.10:28486485:C:T p.(Val180Met) NC_000016.10:28486485:C:T Identity +NM_001291860.2:c.1371C>A NP_001278789.1:p.Ser457Arg NC_000001.11:21884902:G:T p.(Ser457Arg) NC_000001.11:21884902:G:T p.(Ser457Arg) NC_000001.11:21884902:G:T Identity +NM_001163771.2:c.283G>C NP_001157243.1:p.Gly95Arg NC_000006.12:33189137:C:G p.(Gly95Arg) NC_000006.12:33189137:C:G p.(Gly95Arg) NC_000006.12:33189137:C:G Identity +NM_014639.4:c.521A>C NP_055454.1:p.Gln174Pro NC_000005.10:95540711:T:G p.(Gln174Pro) NC_000005.10:95540711:T:G p.(Gln174Pro) NC_000005.10:95540711:T:G Identity +NM_001206927.2:c.5498A>G NP_001193856.1:p.Asn1833Ser NC_000006.12:38852724:A:G p.(Asn1833Ser) NC_000006.12:38852724:A:G p.(Asn1833Ser) NC_000006.12:38852724:A:G Identity +NM_001397406.1:c.265A>G NP_001384335.1:p.Asn89Asp NC_000019.10:10315427:T:C p.(Asn89Asp) NC_000019.10:10315427:T:C p.(Asn89Asp) NC_000019.10:10315427:T:C Identity +NM_001282225.2:c.647G>T NP_001269154.1:p.Gly216Val NC_000022.11:17203668:C:A p.(Gly216Val) NC_000022.11:17203668:C:A p.(Gly216Val) NC_000022.11:17203668:C:A Identity +NM_025114.4:c.1094A>C NP_079390.3:p.Lys365Thr NC_000012.12:88125340:T:G p.(Lys365Thr) NC_000012.12:88125340:T:G p.(Lys365Thr) NC_000012.12:88125340:T:G Identity +NM_024529.5:c.205C>G NP_078805.3:p.Leu69Val NC_000001.11:193125184:C:G p.(Leu69Val) NC_000001.11:193125184:C:G p.(Leu69Val) NC_000001.11:193125184:C:G Identity +NM_014510.3:c.14059A>G NP_055325.2:p.Thr4687Ala NC_000007.14:82841496:T:C p.(Thr4687Ala) NC_000007.14:82841496:T:C p.(Thr4687Ala) NC_000007.14:82841496:T:C Identity +NM_000445.5:c.9329G>A NP_000436.2:p.Arg3110His NC_000008.11:143920572:C:T p.(Arg3110His) NC_000008.11:143920572:C:T p.(Arg3110His) NC_000008.11:143920572:C:T Identity +NM_001143850.3:c.233C>G NP_001137322.1:p.Thr78Arg NC_000012.12:123672097:C:G p.(Thr78Arg) NC_000012.12:123672097:C:G p.(Thr78Arg) NC_000012.12:123672097:C:G Identity +NM_001386685.1:c.844C>T NP_001373614.1:p.Gln282Ter NC_000011.10:108146309:C:T p.(Gln282Ter) NC_000011.10:108146309:C:T p.(Gln282Ter) NC_000011.10:108146309:C:T Identity +NM_001136271.3:c.367C>G NP_001129743.2:p.Arg123Gly NC_000008.11:23702989:G:C p.(Arg123Gly) NC_000008.11:23702989:G:C p.(Arg123Gly) NC_000008.11:23702989:G:C Identity +NM_001350935.2:c.35T>A NP_001337864.1:p.Leu12His NC_000012.12:122500805:A:T p.(Leu12His) NC_000012.12:122500805:A:T p.(Leu12His) NC_000012.12:122500805:A:T Identity +NM_001306079.2:c.2899C>T NP_001293008.1:p.Gln967Ter NC_000002.12:27233407:C:T p.(Gln967Ter) NC_000002.12:27233407:C:T p.(Gln967Ter) NC_000002.12:27233407:C:T Identity +NM_021072.4:c.1798A>G NP_066550.2:p.Ile600Val NC_000005.10:45262795:T:C p.(Ile600Val) NC_000005.10:45262795:T:C p.(Ile600Val) NC_000005.10:45262795:T:C Identity +NM_001261406.2:c.5630G>C NP_001248335.1:p.Gly1877Ala NC_000009.12:13110735:C:G p.(Gly1877Ala) NC_000009.12:13110735:C:G p.(Gly1877Ala) NC_000009.12:13110735:C:G Identity +NM_001347701.2:c.2522G>A NP_001334630.1:p.Gly841Glu NC_000006.12:152133360:C:T p.(Gly841Glu) NC_000006.12:152133360:C:T p.(Gly841Glu) NC_000006.12:152133360:C:T Identity +NM_001168370.2:c.881C>A NP_001161842.2:p.Ser294Ter NC_000006.12:43051415:G:T p.(Ser294Ter) NC_000006.12:43051415:G:T p.(Ser294Ter) NC_000006.12:43051415:G:T Identity +NM_015243.3:c.2498A>G NP_056058.2:p.Glu833Gly NC_000008.11:99193039:A:G p.(Glu833Gly) NC_000008.11:99193039:A:G p.(Glu833Gly) NC_000008.11:99193039:A:G Identity +NM_000719.7:c.13A>C NP_000710.5:p.Asn5His NC_000012.12:2053574:A:C p.(Asn5His) NC_000012.12:2053574:A:C p.(Asn5His) NC_000012.12:2053574:A:C Identity +NM_001007792.1:c.1966C>T NP_001007793.1:p.Arg656Cys NC_000001.11:156880025:C:T p.(Arg656Cys) NC_000001.11:156880025:C:T p.(Arg656Cys) NC_000001.11:156880025:C:T Identity +NM_001272003.2:c.2347C>T NP_001258932.1:p.Arg783Cys NC_000009.12:135777469:C:T p.(Arg783Cys) NC_000009.12:135777469:C:T p.(Arg783Cys) NC_000009.12:135777469:C:T Identity +NM_006662.3:c.7331G>A NP_006653.2:p.Arg2444Gln NC_000016.10:30737370:G:A p.(Arg2444Gln) NC_000016.10:30737370:G:A p.(Arg2444Gln) NC_000016.10:30737370:G:A Identity +NM_001291860.2:c.7870T>C NP_001278789.1:p.Ser2624Pro NC_000001.11:21847963:A:G p.(Ser2624Pro) NC_000001.11:21847963:A:G p.(Ser2624Pro) NC_000001.11:21847963:A:G Identity +NM_001377456.1:c.764A>C NP_001364385.1:p.Asp255Ala NC_000016.10:56505989:T:G p.(Asp255Ala) NC_000016.10:56505989:T:G p.(Asp255Ala) NC_000016.10:56505989:T:G Identity +NM_001079821.3:c.644A>G NP_001073289.2:p.Glu215Gly NC_000001.11:247424092:A:G p.(Glu215Gly) NC_000001.11:247424092:A:G p.(Glu215Gly) NC_000001.11:247424092:A:G Identity +NM_001005407.2:c.3961G>A NP_001005407.1:p.Gly1321Ser NC_000016.10:1210484:G:A p.(Gly1321Ser) NC_000016.10:1210484:G:A p.(Gly1321Ser) NC_000016.10:1210484:G:A Identity +NM_001165928.4:c.1514G>A NP_001159400.3:p.Arg505Lys NC_000003.12:49532024:G:A p.(Arg505Lys) NC_000003.12:49532024:G:A p.(Arg505Lys) NC_000003.12:49532024:G:A Identity +NM_000444.6:c.643dup NP_000435.3:p.Ser215fs NC_000023.11:22077681:T:TT p.(Ser215PhefsTer3) NC_000023.11:22077681:T:TT p.(Ser215PhefsTer3) ERR:SPDI Analogous +NM_001204403.2:c.481A>G NP_001191332.1:p.Ser161Gly NC_000010.11:60270144:T:C p.(Ser161Gly) NC_000010.11:60270144:T:C p.(Ser161Gly) NC_000010.11:60270144:T:C Identity +NM_024753.5:c.1964G>A NP_079029.3:p.Arg655Gln NC_000002.12:165915374:C:T p.(Arg655Gln) NC_000002.12:165915374:C:T p.(Arg655Gln) NC_000002.12:165915374:C:T Identity +NM_133459.4:c.1120T>A NP_597716.1:p.Phe374Ile NC_000018.10:59436008:A:T p.(Phe374Ile) NC_000018.10:59436008:A:T p.(Phe374Ile) NC_000018.10:59436008:A:T Identity +NM_014510.3:c.14779C>T NP_055325.2:p.Arg4927Cys NC_000007.14:82822506:G:A p.(Arg4927Cys) NC_000007.14:82822506:G:A p.(Arg4927Cys) NC_000007.14:82822506:G:A Identity +NM_018190.4:c.346A>G NP_060660.2:p.Ile116Val NC_000004.12:121859173:T:C p.(Ile116Val) NC_000004.12:121859173:T:C p.(Ile116Val) NC_000004.12:121859173:T:C Identity +NM_001170414.2:c.2953G>C NP_001163885.1:p.Gly985Arg NC_000009.12:69254263:G:C p.(Gly985Arg) NC_000009.12:69254263:G:C p.(Gly985Arg) NC_000009.12:69254263:G:C Identity +NM_017570.5:c.1754C>T NP_060040.1:p.Thr585Met NC_000008.11:144056707:G:A p.(Thr585Met) NC_000008.11:144056707:G:A p.(Thr585Met) NC_000008.11:144056707:G:A Identity +NM_001384732.1:c.2616T>A NP_001371661.1:p.Tyr872Ter NC_000005.10:37221453:A:T p.(Tyr872Ter) NC_000005.10:37221453:A:T p.(Tyr872Ter) NC_000005.10:37221453:A:T Identity +NM_001145715.3:c.769G>T NP_001139187.1:p.Val257Phe NC_000007.14:99188430:C:A p.(Val257Phe) NC_000007.14:99188430:C:A p.(Val257Phe) NC_000007.14:99188430:C:A Identity +NM_000251.3:c.1924G>C NP_000242.1:p.Val642Leu NC_000002.12:47475188:G:C p.(Val642Leu) NC_000002.12:47475188:G:C p.(Val642Leu) NC_000002.12:47475188:G:C Identity +NM_000310.4:c.89C>T NP_000301.1:p.Pro30Leu NC_000001.11:40097149:G:A p.(Pro30Leu) NC_000001.11:40097149:G:A p.(Pro30Leu) NC_000001.11:40097149:G:A Identity +NM_001254740.2:c.235A>G NP_001241669.1:p.Ser79Gly NC_000015.10:65650402:A:G p.(Ser79Gly) NC_000015.10:65650402:A:G p.(Ser79Gly) NC_000015.10:65650402:A:G Identity +NM_006516.4:c.266G>A NP_006507.2:p.Arg89His NC_000001.11:42931054:C:T p.(Arg89His) NC_000001.11:42931054:C:T p.(Arg89His) NC_000001.11:42931054:C:T Identity +NM_001348353.1:c.127G>T NP_001335282.1:p.Val43Leu NC_000008.11:30653471:C:A p.(Val43Leu) NC_000008.11:30653471:C:A p.(Val43Leu) NC_000008.11:30653471:C:A Identity +NM_001199579.2:c.667G>A NP_001186508.1:p.Val223Ile NC_000022.11:38749775:C:T p.(Val223Ile) NC_000022.11:38749775:C:T p.(Val223Ile) NC_000022.11:38749775:C:T Identity +NM_001267578.2:c.1013G>A NP_001254507.1:p.Arg338Gln NC_000001.11:179917496:G:A p.(Arg338Gln) NC_000001.11:179917496:G:A p.(Arg338Gln) NC_000001.11:179917496:G:A Identity +NM_001378454.1:c.5615C>T NP_001365383.1:p.Thr1872Ile NC_000002.12:73452141:C:T p.(Thr1872Ile) NC_000002.12:73452141:C:T p.(Thr1872Ile) NC_000002.12:73452141:C:T Identity +NM_001098.3:c.2128G>A NP_001089.1:p.Ala710Thr NC_000022.11:41527941:G:A p.(Ala710Thr) NC_000022.11:41527941:G:A p.(Ala710Thr) NC_000022.11:41527941:G:A Identity +NM_005732.4:c.3201A>G NP_005723.2:p.Ile1067Met NC_000005.10:132618105:A:G p.(Ile1067Met) NC_000005.10:132618105:A:G p.(Ile1067Met) NC_000005.10:132618105:A:G Identity +NM_001378454.1:c.5057A>G NP_001365383.1:p.Glu1686Gly NC_000002.12:73451583:A:G p.(Glu1686Gly) NC_000002.12:73451583:A:G p.(Glu1686Gly) NC_000002.12:73451583:A:G Identity +NM_001130991.3:c.2032G>A NP_001124463.1:p.Ala678Thr NC_000011.10:119048846:C:T p.(Ala678Thr) NC_000011.10:119048846:C:T p.(Ala678Thr) NC_000011.10:119048846:C:T Identity +NM_003482.4:c.2075C>G NP_003473.3:p.Pro692Arg NC_000012.12:49051607:G:C p.(Pro692Arg) NC_000012.12:49051607:G:C p.(Pro692Arg) NC_000012.12:49051607:G:C Identity +NM_001303458.3:c.356T>C NP_001290387.1:p.Val119Ala NC_000020.11:43604200:T:C p.(Val119Ala) NC_000020.11:43604200:T:C p.(Val119Ala) NC_000020.11:43604200:T:C Identity +NM_007215.4:c.1267T>G NP_009146.2:p.Ser423Ala NC_000017.11:64480313:A:C p.(Ser423Ala) NC_000017.11:64480313:A:C p.(Ser423Ala) NC_000017.11:64480313:A:C Identity +NM_004304.5:c.2306A>T NP_004295.2:p.Asp769Val NC_000002.12:29239728:T:A p.(Asp769Val) NC_000002.12:29239728:T:A p.(Asp769Val) NC_000002.12:29239728:T:A Identity +NM_001278055.2:c.12845C>G NP_001264984.1:p.Ser4282Cys NC_000013.11:23330589:G:C p.(Ser4282Cys) NC_000013.11:23330589:G:C p.(Ser4282Cys) NC_000013.11:23330589:G:C Identity +NM_033071.5:c.9191G>A NP_149062.2:p.Gly3064Asp NC_000006.12:152376534:C:T p.(Gly3064Asp) NC_000006.12:152376534:C:T p.(Gly3064Asp) NC_000006.12:152376534:C:T Identity +NM_001257361.2:c.1460C>G NP_001244290.1:p.Thr487Ser NC_000001.11:109629188:C:G p.(Thr487Ser) NC_000001.11:109629188:C:G p.(Thr487Ser) NC_000001.11:109629188:C:G Identity +NM_001252043.2:c.2737C>G NP_001238972.1:p.Leu913Val NC_000016.10:29987347:C:G p.(Leu913Val) NC_000016.10:29987347:C:G p.(Leu913Val) NC_000016.10:29987347:C:G Identity +NM_013432.5:c.3347G>A NP_038460.4:p.Arg1116His NC_000008.11:144434017:C:T p.(Arg1116His) NC_000008.11:144434017:C:T p.(Arg1116His) NC_000008.11:144434017:C:T Identity +NM_004064.5:c.442T>C NP_004055.1:p.Cys148Arg NC_000012.12:12718280:T:C p.(Cys148Arg) NC_000012.12:12718280:T:C p.(Cys148Arg) NC_000012.12:12718280:T:C Identity +NM_020964.3:c.4923A>C NP_066015.2:p.Glu1641Asp NC_000018.10:45889826:T:G p.(Glu1641Asp) NC_000018.10:45889826:T:G p.(Glu1641Asp) NC_000018.10:45889826:T:G Identity +NM_030943.4:c.108G>C NP_112205.2:p.Trp36Cys NC_000014.9:102923774:G:C p.(Trp36Cys) NC_000014.9:102923774:G:C p.(Trp36Cys) NC_000014.9:102923774:G:C Identity +NM_001127713.1:c.178G>C NP_001121185.1:p.Glu60Gln NC_000014.9:50587973:G:C p.(Glu60Gln) NC_000014.9:50587973:G:C p.(Glu60Gln) NC_000014.9:50587973:G:C Identity +NM_001242385.2:c.1084_1085del NP_001229314.1:p.Gln362fs NC_000006.12:10796055:TGT:T p.(Gln362GlufsTer20) NC_000006.12:10796055:TGT:T p.(Gln362GlufsTer20) NC_000006.12:10796055:TG: Analogous +NM_001244008.2:c.5104C>T NP_001230937.1:p.Arg1702Cys NC_000002.12:240719115:G:A p.(Arg1702Cys) NC_000002.12:240719115:G:A p.(Arg1702Cys) NC_000002.12:240719115:G:A Identity +NM_001040113.2:c.1849T>G NP_001035202.1:p.Ser617Ala NC_000016.10:15753429:A:C p.(Ser617Ala) NC_000016.10:15753429:A:C p.(Ser617Ala) NC_000016.10:15753429:A:C Identity +NM_001363227.2:c.1218G>T NP_001350156.1:p.Leu406Phe NC_000008.11:43191562:G:T p.(Leu406Phe) NC_000008.11:43191562:G:T p.(Leu406Phe) NC_000008.11:43191562:G:T Identity +NM_001260474.2:c.1175C>T NP_001247403.1:p.Pro392Leu NC_000021.9:42850109:G:A p.(Pro392Leu) NC_000021.9:42850109:G:A p.(Pro392Leu) NC_000021.9:42850109:G:A Identity +NM_001321135.2:c.395C>T NP_001308064.1:p.Ser132Leu NC_000015.10:77027891:C:T p.(Ser132Leu) NC_000015.10:77027891:C:T p.(Ser132Leu) NC_000015.10:77027891:C:T Identity +NM_002618.4:c.154C>A NP_002609.1:p.Pro52Thr NC_000002.12:61031479:C:A p.(Pro52Thr) NC_000002.12:61031479:C:A p.(Pro52Thr) NC_000002.12:61031479:C:A Identity +NM_001379468.1:c.257A>G NP_001366397.1:p.Asp86Gly NC_000003.12:196707680:T:C p.(Asp86Gly) NC_000003.12:196707680:T:C p.(Asp86Gly) NC_000003.12:196707680:T:C Identity +NM_001286577.2:c.5930G>A NP_001273506.1:p.Arg1977Gln NC_000011.10:74034229:C:T p.(Arg1977Gln) NC_000011.10:74034229:C:T p.(Arg1977Gln) NC_000011.10:74034229:C:T Identity +NM_001195302.2:c.437C>A NP_001182231.1:p.Thr146Asn NC_000016.10:58010099:C:A p.(Thr146Asn) NC_000016.10:58010099:C:A p.(Thr146Asn) NC_000016.10:58010099:C:A Identity +NM_000111.3:c.2255G>A NP_000102.1:p.Arg752His NC_000007.14:107767594:C:T p.(Arg752His) NC_000007.14:107767594:C:T p.(Arg752His) NC_000007.14:107767594:C:T Identity +NM_000587.4:c.2309A>G NP_000578.2:p.Glu770Gly NC_000005.10:40979867:A:G p.(Glu770Gly) NC_000005.10:40979867:A:G p.(Glu770Gly) NC_000005.10:40979867:A:G Identity +NM_001308276.2:c.1373C>A NP_001295205.1:p.Ala458Glu NC_000010.11:93797645:C:A p.(Ala458Glu) NC_000010.11:93797645:C:A p.(Ala458Glu) NC_000010.11:93797645:C:A Identity +NM_001363907.1:c.392A>T NP_001350836.1:p.Lys131Ile NC_000016.10:85911572:A:T p.(Lys131Ile) NC_000016.10:85911572:A:T p.(Lys131Ile) NC_000016.10:85911572:A:T Identity +NM_000338.3:c.281A>G NP_000329.2:p.Asn94Ser NC_000015.10:48207999:A:G p.(Asn94Ser) NC_000015.10:48207999:A:G p.(Asn94Ser) NC_000015.10:48207999:A:G Identity +NM_001384474.1:c.1164C>G NP_001371403.1:p.Ile388Met NC_000018.10:46594436:G:C p.(Ile388Met) NC_000018.10:46594436:G:C p.(Ile388Met) NC_000018.10:46594436:G:C Identity +NM_001142333.2:c.610C>G NP_001135805.1:p.Pro204Ala NC_000016.10:7597418:C:G p.(Pro204Ala) NC_000016.10:7597418:C:G p.(Pro204Ala) NC_000016.10:7597418:C:G Identity +NM_000379.4:c.2281A>G NP_000370.2:p.Met761Val NC_000002.12:31366910:T:C p.(Met761Val) NC_000002.12:31366910:T:C p.(Met761Val) NC_000002.12:31366910:T:C Identity +NM_001290184.2:c.1993A>G NP_001277113.1:p.Ile665Val NC_000001.11:160358193:A:G p.(Ile665Val) NC_000001.11:160358193:A:G p.(Ile665Val) NC_000001.11:160358193:A:G Identity +NM_001281302.2:c.1715T>C NP_001268231.1:p.Ile572Thr NC_000005.10:74730366:A:G p.(Ile572Thr) NC_000005.10:74730366:A:G p.(Ile572Thr) NC_000005.10:74730366:A:G Identity +NM_001303245.3:c.1465G>A NP_001290174.1:p.Ala489Thr NC_000003.12:141574048:G:A p.(Ala489Thr) NC_000003.12:141574048:G:A p.(Ala489Thr) NC_000003.12:141574048:G:A Identity +NM_080476.5:c.1220A>G NP_536724.1:p.Tyr407Cys NC_000020.11:34560953:T:C p.(Tyr407Cys) NC_000020.11:34560953:T:C p.(Tyr407Cys) NC_000020.11:34560953:T:C Identity +NM_001035.3:c.12446A>G NP_001026.2:p.Tyr4149Cys NC_000001.11:237784157:A:G p.(Tyr4149Cys) NC_000001.11:237784157:A:G p.(Tyr4149Cys) NC_000001.11:237784157:A:G Identity +NM_000384.3:c.10132C>A NP_000375.3:p.Gln3378Lys NC_000002.12:21006735:G:T p.(Gln3378Lys) NC_000002.12:21006735:G:T p.(Gln3378Lys) NC_000002.12:21006735:G:T Identity +NM_000170.3:c.2749G>C NP_000161.2:p.Asp917His NC_000009.12:6536152:C:G p.(Asp917His) NC_000009.12:6536152:C:G p.(Asp917His) NC_000009.12:6536152:C:G Identity +NM_001171.6:c.2897A>G NP_001162.5:p.Tyr966Cys NC_000016.10:16169743:T:C p.(Tyr966Cys) NC_000016.10:16169743:T:C p.(Tyr966Cys) NC_000016.10:16169743:T:C Identity +NM_000245.4:c.3284G>A NP_000236.2:p.Gly1095Glu NC_000007.14:116777412:G:A p.(Gly1095Glu) NC_000007.14:116777412:G:A p.(Gly1095Glu) NC_000007.14:116777412:G:A Identity +NM_001345867.2:c.281A>G NP_001332796.1:p.Glu94Gly NC_000004.12:44689892:A:G p.(Glu94Gly) NC_000004.12:44689892:A:G p.(Glu94Gly) NC_000004.12:44689892:A:G Identity +NM_001014431.2:c.1243C>T NP_001014431.1:p.His415Tyr NC_000014.9:104772381:G:A p.(His415Tyr) NC_000014.9:104772381:G:A p.(His415Tyr) NC_000014.9:104772381:G:A Identity +NM_001195302.2:c.680G>A NP_001182231.1:p.Arg227His NC_000016.10:58020180:G:A p.(Arg227His) NC_000016.10:58020180:G:A p.(Arg227His) NC_000016.10:58020180:G:A Identity +NM_000720.4:c.4486A>G NP_000711.1:p.Ile1496Val NC_000003.12:53776665:A:G p.(Ile1496Val) NC_000003.12:53776665:A:G p.(Ile1496Val) NC_000003.12:53776665:A:G Identity +NM_001029883.3:c.3149dup NP_001025054.1:p.Pro1051fs NC_000002.12:29071112:GGGG:GGGGG p.(Pro1051ThrfsTer56) NC_000002.12:29071112:GGGG:GGGGG p.(Pro1051ThrfsTer56) ERR:SPDI Analogous +NM_001105540.2:c.544G>A NP_001099010.1:p.Gly182Ser NC_000011.10:46366799:G:A p.(Gly182Ser) NC_000011.10:46366799:G:A p.(Gly182Ser) NC_000011.10:46366799:G:A Identity +NM_031935.3:c.16657C>T NP_114141.2:p.Arg5553Trp NC_000001.11:186189626:C:T p.(Arg5553Trp) NC_000001.11:186189626:C:T p.(Arg5553Trp) NC_000001.11:186189626:C:T Identity +NM_004369.4:c.4311_4312inv NP_004360.2:p.Val1438Ile NC_000002.12:237369150:CA:TG p.(Val1438Ile) NC_000002.12:237369150:CA:TG p.(Val1438Ile) ERR:SPDI Identity +NM_170606.3:c.7372T>C NP_733751.2:p.Phe2458Leu NC_000007.14:152179903:A:G p.(Phe2458Leu) NC_000007.14:152179903:A:G p.(Phe2458Leu) NC_000007.14:152179903:A:G Identity +NM_172364.5:c.986T>C NP_758952.4:p.Ile329Thr NC_000012.12:1886229:A:G p.(Ile329Thr) NC_000012.12:1886229:A:G p.(Ile329Thr) NC_000012.12:1886229:A:G Identity +NM_001128855.3:c.139G>A NP_001122327.1:p.Gly47Ser NC_000019.10:17338092:G:A p.(Gly47Ser) NC_000019.10:17338092:G:A p.(Gly47Ser) NC_000019.10:17338092:G:A Identity +NM_033071.5:c.3440T>C NP_149062.2:p.Ile1147Thr NC_000006.12:152449617:A:G p.(Ile1147Thr) NC_000006.12:152449617:A:G p.(Ile1147Thr) NC_000006.12:152449617:A:G Identity +NM_000135.4:c.663G>A NP_000126.2:p.Met221Ile NC_000016.10:89805325:C:T p.(Met221Ile) NC_000016.10:89805325:C:T p.(Met221Ile) NC_000016.10:89805325:C:T Identity +NM_001291285.3:c.10882A>C NP_001278214.1:p.Asn3628His NC_000004.12:125451891:A:C p.(Asn3628His) NC_000004.12:125451891:A:C p.(Asn3628His) NC_000004.12:125451891:A:C Identity +NM_001350935.2:c.58G>A NP_001337864.1:p.Glu20Lys NC_000012.12:122500782:C:T p.(Glu20Lys) NC_000012.12:122500782:C:T p.(Glu20Lys) NC_000012.12:122500782:C:T Identity +NM_001127487.2:c.2062G>C NP_001120959.1:p.Ala688Pro NC_000007.14:128841507:G:C p.(Ala688Pro) NC_000007.14:128841507:G:C p.(Ala688Pro) NC_000007.14:128841507:G:C Identity +NM_001271985.2:c.737A>G NP_001258914.1:p.Asn246Ser NC_000011.10:125893869:T:C p.(Asn246Ser) NC_000011.10:125893869:T:C p.(Asn246Ser) NC_000011.10:125893869:T:C Identity +NM_001163435.3:c.1250A>G NP_001156907.2:p.Asn417Ser NC_000004.12:106236489:T:C p.(Asn417Ser) NC_000004.12:106236489:T:C p.(Asn417Ser) NC_000004.12:106236489:T:C Identity +NM_001321851.1:c.4162G>A NP_001308780.1:p.Glu1388Lys NC_000014.9:92003810:C:T p.(Glu1388Lys) NC_000014.9:92003810:C:T p.(Glu1388Lys) NC_000014.9:92003810:C:T Identity +NM_000587.4:c.140C>T NP_000578.2:p.Thr47Ile NC_000005.10:40934325:C:T p.(Thr47Ile) NC_000005.10:40934325:C:T p.(Thr47Ile) NC_000005.10:40934325:C:T Identity +NM_005221.6:c.437del NP_005212.1:p.Ser146fs NC_000007.14:97022287:C: p.(Ser146ThrfsTer31) NC_000007.14:97022287:C: p.(Ser146ThrfsTer31) NC_000007.14:97022287:C: Analogous +NM_030665.4:c.2939C>A NP_109590.3:p.Ala980Asp NC_000017.11:17795886:C:A p.(Ala980Asp) NC_000017.11:17795886:C:A p.(Ala980Asp) NC_000017.11:17795886:C:A Identity +NM_206933.4:c.7188G>T NP_996816.3:p.Trp2396Cys NC_000001.11:215934727:C:A p.(Trp2396Cys) NC_000001.11:215934727:C:A p.(Trp2396Cys) NC_000001.11:215934727:C:A Identity +NM_006059.4:c.3188A>G NP_006050.3:p.Tyr1063Cys NC_000009.12:131071601:A:G p.(Tyr1063Cys) NC_000009.12:131071601:A:G p.(Tyr1063Cys) NC_000009.12:131071601:A:G Identity +NM_001243776.2:c.1229G>A NP_001230705.1:p.Arg410Gln NC_000011.10:95829314:G:A p.(Arg410Gln) NC_000011.10:95829314:G:A p.(Arg410Gln) NC_000011.10:95829314:G:A Identity +NM_005430.4:c.179G>A NP_005421.1:p.Ser60Asn NC_000012.12:48979541:G:A p.(Ser60Asn) NC_000012.12:48979541:G:A p.(Ser60Asn) NC_000012.12:48979541:G:A Identity +NM_001178075.2:c.477del NP_001171546.1:p.Leu160fs NC_000007.14:97859345:AAAA:AAA p.(Leu160PhefsTer10) NC_000007.14:97859345:AAAA:AAA p.(Leu160PhefsTer10) NC_000007.14:97859345:A: Analogous +NM_004963.4:c.3038C>G NP_004954.2:p.Pro1013Arg NC_000012.12:14614875:G:C p.(Pro1013Arg) NC_000012.12:14614875:G:C p.(Pro1013Arg) NC_000012.12:14614875:G:C Identity +NM_000264.5:c.3040C>T NP_000255.2:p.Pro1014Ser NC_000009.12:95458140:G:A p.(Pro1014Ser) NC_000009.12:95458140:G:A p.(Pro1014Ser) NC_000009.12:95458140:G:A Identity +NM_001252020.2:c.1567G>A NP_001238949.1:p.Gly523Arg NC_000015.10:31049430:C:T p.(Gly523Arg) NC_000015.10:31049430:C:T p.(Gly523Arg) NC_000015.10:31049430:C:T Identity +NM_006267.5:c.1818G>C NP_006258.3:p.Trp606Cys NC_000002.12:108753059:G:C p.(Trp606Cys) NC_000002.12:108753059:G:C p.(Trp606Cys) NC_000002.12:108753059:G:C Identity +NM_001168370.2:c.547C>T NP_001161842.2:p.Arg183Trp NC_000006.12:43052241:G:A p.(Arg183Trp) NC_000006.12:43052241:G:A p.(Arg183Trp) NC_000006.12:43052241:G:A Identity +NM_001306079.2:c.4958C>T NP_001293008.1:p.Thr1653Met NC_000002.12:27239125:C:T p.(Thr1653Met) NC_000002.12:27239125:C:T p.(Thr1653Met) NC_000002.12:27239125:C:T Identity +NM_000540.3:c.12640C>A NP_000531.2:p.Arg4214Ser NC_000019.10:38564973:C:A p.(Arg4214Ser) NC_000019.10:38564973:C:A p.(Arg4214Ser) NC_000019.10:38564973:C:A Identity +NM_001287489.2:c.595G>T NP_001274418.1:p.Val199Leu NC_000002.12:26502414:C:A p.(Val199Leu) NC_000002.12:26502414:C:A p.(Val199Leu) NC_000002.12:26502414:C:A Identity +NM_002775.5:c.434C>A NP_002766.1:p.Pro145Gln NC_000010.11:122462085:C:A p.(Pro145Gln) NC_000010.11:122462085:C:A p.(Pro145Gln) NC_000010.11:122462085:C:A Identity +NM_014510.3:c.305C>T NP_055325.2:p.Pro102Leu NC_000007.14:83156335:G:A p.(Pro102Leu) NC_000007.14:83156335:G:A p.(Pro102Leu) NC_000007.14:83156335:G:A Identity +NM_001127660.2:c.1284G>T NP_001121132.1:p.Arg428Ser NC_000001.11:12004114:G:T p.(Arg428Ser) NC_000001.11:12004114:G:T p.(Arg428Ser) NC_000001.11:12004114:G:T Identity +NM_001113378.2:c.765TGT[1] NP_001106849.1:p.Val257del NC_000015.10:89268407:TGTTGT:TGT p.(Val257del) NC_000015.10:89268407:T:TGT ERR:Parse ERR:Parse Identity +NM_001042410.2:c.2056C>T NP_001035869.1:p.Arg686Ter NC_000002.12:219236093:C:T p.(Arg686Ter) NC_000002.12:219236093:C:T p.(Arg686Ter) NC_000002.12:219236093:C:T Identity +NM_033071.5:c.4065_4068del NP_149062.2:p.Asn1355fs NC_000006.12:152441231:TTTGTTTGTTT:TTTGTTT p.(Asn1355LysfsTer4) NC_000006.12:152441231:TTTGTTTGTTT:TTTGTTT p.(Asn1355LysfsTer4) NC_000006.12:152441231:TTTG: Analogous +NM_005732.4:c.2987A>G NP_005723.2:p.Lys996Arg NC_000005.10:132609346:A:G p.(Lys996Arg) NC_000005.10:132609346:A:G p.(Lys996Arg) NC_000005.10:132609346:A:G Identity +NM_001080522.2:c.505C>T NP_001073991.2:p.His169Tyr NC_000004.12:15510204:C:T p.(His169Tyr) NC_000004.12:15510204:C:T p.(His169Tyr) NC_000004.12:15510204:C:T Identity +NM_003630.3:c.899G>C NP_003621.1:p.Arg300Pro NC_000006.12:143479155:G:C p.(Arg300Pro) NC_000006.12:143479155:G:C p.(Arg300Pro) NC_000006.12:143479155:G:C Identity +NM_033109.5:c.610C>G NP_149100.2:p.Pro204Ala NC_000002.12:55679750:G:C p.(Pro204Ala) NC_000002.12:55679750:G:C p.(Pro204Ala) NC_000002.12:55679750:G:C Identity +NM_001353765.2:c.1380C>G NP_001340694.1:p.His460Gln NC_000002.12:29193502:G:C p.(His460Gln) NC_000002.12:29193502:G:C p.(His460Gln) NC_000002.12:29193502:G:C Identity +NM_002439.5:c.2270_2273del NP_002430.3:p.Lys757fs NC_000005.10:80775707:AAAGAA:AA p.(Lys757ThrfsTer12) NC_000005.10:80775707:AAAGAA:AA p.(Lys757ThrfsTer12) NC_000005.10:80775709:AGAA: Analogous +NM_001330504.2:c.124G>A NP_001317433.1:p.Val42Ile NC_000016.10:5075453:G:A p.(Val42Ile) NC_000016.10:5075453:G:A p.(Val42Ile) NC_000016.10:5075453:G:A Identity +NM_001001523.2:c.1384C>G NP_001001523.1:p.Leu462Val NC_000001.11:151807581:G:C p.(Leu462Val) NC_000001.11:151807581:G:C p.(Leu462Val) NC_000001.11:151807581:G:C Identity +NM_001318324.2:c.5012C>T NP_001305253.1:p.Thr1671Ile NC_000009.12:131198535:C:T p.(Thr1671Ile) NC_000009.12:131198535:C:T p.(Thr1671Ile) NC_000009.12:131198535:C:T Identity +NM_002470.4:c.3943_3944delinsAT NP_002461.2:p.Glu1315Met NC_000017.11:10635765:TC:AT p.(Glu1315Met) NC_000017.11:10635765:TC:AT p.(Glu1315Met) NC_000017.11:10635765:TC:AT Identity +NM_022168.4:c.277C>G NP_071451.2:p.Arg93Gly NC_000002.12:162318030:G:C p.(Arg93Gly) NC_000002.12:162318030:G:C p.(Arg93Gly) NC_000002.12:162318030:G:C Identity +NM_001082537.3:c.346G>A NP_001076006.1:p.Asp116Asn NC_000012.12:110626365:G:A p.(Asp116Asn) NC_000012.12:110626365:G:A p.(Asp116Asn) NC_000012.12:110626365:G:A Identity +NM_001407044.1:c.776G>A NP_001393973.1:p.Gly259Asp NC_000011.10:32428504:C:T p.(Gly259Asp) NC_000011.10:32428504:C:T p.(Gly259Asp) NC_000011.10:32428504:C:T Identity +NM_003630.3:c.914A>G NP_003621.1:p.Asp305Gly NC_000006.12:143479170:A:G p.(Asp305Gly) NC_000006.12:143479170:A:G p.(Asp305Gly) NC_000006.12:143479170:A:G Identity +NM_001011.4:c.521C>G NP_001002.1:p.Ser174Cys NC_000002.12:3580817:C:G p.(Ser174Cys) NC_000002.12:3580817:C:G p.(Ser174Cys) NC_000002.12:3580817:C:G Identity +NM_001346599.2:c.143A>G NP_001333528.1:p.His48Arg NC_000007.14:105542510:A:G p.(His48Arg) NC_000007.14:105542510:A:G p.(His48Arg) NC_000007.14:105542510:A:G Identity +NM_001318219.1:c.4930C>T NP_001305148.1:p.Gln1644Ter NC_000020.11:35508109:C:T p.(Gln1644Ter) NC_000020.11:35508109:C:T p.(Gln1644Ter) NC_000020.11:35508109:C:T Identity +NM_000426.4:c.3941A>G NP_000417.3:p.Tyr1314Cys NC_000006.12:129316053:A:G p.(Tyr1314Cys) NC_000006.12:129316053:A:G p.(Tyr1314Cys) NC_000006.12:129316053:A:G Identity +NM_005112.5:c.220T>C NP_005103.2:p.Tyr74His NC_000004.12:10088369:A:G p.(Tyr74His) NC_000004.12:10088369:A:G p.(Tyr74His) NC_000004.12:10088369:A:G Identity +NM_001173476.2:c.178G>A NP_001166947.1:p.Val60Met NC_000002.12:219464451:G:A p.(Val60Met) NC_000002.12:219464451:G:A p.(Val60Met) NC_000002.12:219464451:G:A Identity +NM_001166588.3:c.407A>C NP_001160060.1:p.Gln136Pro NC_000001.11:44941552:T:G p.(Gln136Pro) NC_000001.11:44941552:T:G p.(Gln136Pro) NC_000001.11:44941552:T:G Identity +NM_000264.5:c.3564C>A NP_000255.2:p.Asn1188Lys NC_000009.12:95449308:G:T p.(Asn1188Lys) NC_000009.12:95449308:G:T p.(Asn1188Lys) NC_000009.12:95449308:G:T Identity +NM_000445.5:c.5794G>A NP_000436.2:p.Glu1932Lys NC_000008.11:143924215:C:T p.(Glu1932Lys) NC_000008.11:143924215:C:T p.(Glu1932Lys) NC_000008.11:143924215:C:T Identity +NM_001282225.2:c.264G>T NP_001269154.1:p.Gln88His NC_000022.11:17209413:C:A p.(Gln88His) NC_000022.11:17209413:C:A p.(Gln88His) NC_000022.11:17209413:C:A Identity +NM_000234.3:c.1234G>A NP_000225.1:p.Ala412Thr NC_000019.10:48137541:C:T p.(Ala412Thr) NC_000019.10:48137541:C:T p.(Ala412Thr) NC_000019.10:48137541:C:T Identity +NM_005430.4:c.52G>T NP_005421.1:p.Ala18Ser NC_000012.12:48978701:G:T p.(Ala18Ser) NC_000012.12:48978701:G:T p.(Ala18Ser) NC_000012.12:48978701:G:T Identity +NM_001308133.2:c.539T>C NP_001295062.1:p.Ile180Thr NC_000014.9:45137098:T:C p.(Ile180Thr) NC_000014.9:45137098:T:C p.(Ile180Thr) NC_000014.9:45137098:T:C Identity +NM_001130846.4:c.332G>A NP_001124318.2:p.Arg111Lys NC_000023.11:130133411:C:T p.(Arg111Lys) NC_000023.11:130133411:C:T p.(Arg111Lys) NC_000023.11:130133411:C:T Identity +NM_012448.4:c.1676A>C NP_036580.2:p.Asn559Thr NC_000017.11:42211987:T:G p.(Asn559Thr) NC_000017.11:42211987:T:G p.(Asn559Thr) NC_000017.11:42211987:T:G Identity +NM_000051.4:c.5099T>G NP_000042.3:p.Leu1700Arg NC_000011.10:108299806:T:G p.(Leu1700Arg) NC_000011.10:108299806:T:G p.(Leu1700Arg) NC_000011.10:108299806:T:G Identity +NM_000038.6:c.5797T>C NP_000029.2:p.Phe1933Leu NC_000005.10:112841390:T:C p.(Phe1933Leu) NC_000005.10:112841390:T:C p.(Phe1933Leu) NC_000005.10:112841390:T:C Identity +NM_004870.4:c.713A>G NP_004861.2:p.Lys238Arg NC_000017.11:7587519:A:G p.(Lys238Arg) NC_000017.11:7587519:A:G p.(Lys238Arg) NC_000017.11:7587519:A:G Identity +NM_001079812.3:c.1832C>A NP_001073280.1:p.Pro611His NC_000005.10:141573990:G:T p.(Pro611His) NC_000005.10:141573990:G:T p.(Pro611His) NC_000005.10:141573990:G:T Identity +NM_001305275.2:c.3153C>G NP_001292204.1:p.Ser1051Arg NC_000001.11:1046637:C:G p.(Ser1051Arg) NC_000001.11:1046637:C:G p.(Ser1051Arg) NC_000001.11:1046637:C:G Identity +NM_001271440.2:c.613G>A NP_001258369.1:p.Asp205Asn NC_000021.9:44330848:C:T p.(Asp205Asn) NC_000021.9:44330848:C:T p.(Asp205Asn) NC_000021.9:44330848:C:T Identity +NM_001193640.2:c.3827G>T NP_001180569.1:p.Gly1276Val NC_000001.11:197477820:G:T p.(Gly1276Val) NC_000001.11:197477820:G:T p.(Gly1276Val) NC_000001.11:197477820:G:T Identity +NM_003737.4:c.197C>T NP_003728.1:p.Ala66Val NC_000011.10:6641416:G:A p.(Ala66Val) NC_000011.10:6641416:G:A p.(Ala66Val) NC_000011.10:6641416:G:A Identity +NM_001318245.2:c.5992C>T NP_001305174.1:p.Arg1998Trp NC_000022.11:25955196:C:T p.(Arg1998Trp) NC_000022.11:25955196:C:T p.(Arg1998Trp) NC_000022.11:25955196:C:T Identity +NM_015141.4:c.577G>A NP_055956.1:p.Val193Ile NC_000003.12:32146692:G:A p.(Val193Ile) NC_000003.12:32146692:G:A p.(Val193Ile) NC_000003.12:32146692:G:A Identity +NM_001130955.2:c.3266C>G NP_001124427.2:p.Ala1089Gly NC_000019.10:7470203:C:G p.(Ala1089Gly) NC_000019.10:7470203:C:G p.(Ala1089Gly) NC_000019.10:7470203:C:G Identity +NM_000272.5:c.670A>G NP_000263.2:p.Ser224Gly NC_000002.12:110165109:T:C p.(Ser224Gly) NC_000002.12:110165109:T:C p.(Ser224Gly) NC_000002.12:110165109:T:C Identity +NM_001164507.2:c.23524C>A NP_001157979.2:p.Arg7842Ser NC_000002.12:151506940:G:T p.(Arg7842Ser) NC_000002.12:151506940:G:T p.(Arg7842Ser) NC_000002.12:151506940:G:T Identity +NM_001369.3:c.3675C>G NP_001360.1:p.Tyr1225Ter NC_000005.10:13870925:G:C p.(Tyr1225Ter) NC_000005.10:13870925:G:C p.(Tyr1225Ter) NC_000005.10:13870925:G:C Identity +NM_001004356.3:c.1214C>T NP_001004356.1:p.Pro405Leu NC_000004.12:1025045:C:T p.(Pro405Leu) NC_000004.12:1025045:C:T p.(Pro405Leu) NC_000004.12:1025045:C:T Identity +NM_001330358.2:c.712T>G NP_001317287.1:p.Tyr238Asp NC_000001.11:11796396:A:C p.(Tyr238Asp) NC_000001.11:11796396:A:C p.(Tyr238Asp) NC_000001.11:11796396:A:C Identity +NM_000063.6:c.664A>G NP_000054.2:p.Thr222Ala NC_000006.12:31933913:A:G p.(Thr222Ala) NC_000006.12:31933913:A:G p.(Thr222Ala) NC_000006.12:31933913:A:G Identity +NM_000574.5:c.1115G>A NP_000565.1:p.Gly372Glu NC_000001.11:207359578:G:A p.(Gly372Glu) NC_000001.11:207359578:G:A p.(Gly372Glu) NC_000001.11:207359578:G:A Identity +NM_001351018.2:c.1210G>A NP_001337947.1:p.Val404Met NC_000012.12:122238645:C:T p.(Val404Met) NC_000012.12:122238645:C:T p.(Val404Met) NC_000012.12:122238645:C:T Identity +NM_000057.4:c.1105C>A NP_000048.1:p.Gln369Lys NC_000015.10:90760163:C:A p.(Gln369Lys) NC_000015.10:90760163:C:A p.(Gln369Lys) NC_000015.10:90760163:C:A Identity +NM_000782.5:c.533A>G NP_000773.2:p.Lys178Arg NC_000020.11:54171586:T:C p.(Lys178Arg) NC_000020.11:54171586:T:C p.(Lys178Arg) NC_000020.11:54171586:T:C Identity +NM_000448.3:c.1282G>A NP_000439.2:p.Gly428Arg NC_000011.10:36574585:G:A p.(Gly428Arg) NC_000011.10:36574585:G:A p.(Gly428Arg) NC_000011.10:36574585:G:A Identity +NM_001378259.1:c.34T>C NP_001365188.1:p.Tyr12His NC_000003.12:123448511:A:G p.(Tyr12His) NC_000003.12:123448511:A:G p.(Tyr12His) NC_000003.12:123448511:A:G Identity +NM_001330089.2:c.332A>G NP_001317018.1:p.Asp111Gly NC_000002.12:51027941:T:C p.(Asp111Gly) NC_000002.12:51027941:T:C p.(Asp111Gly) NC_000002.12:51027941:T:C Identity +NM_000435.3:c.3364G>A NP_000426.2:p.Asp1122Asn NC_000019.10:15179459:C:T p.(Asp1122Asn) NC_000019.10:15179459:C:T p.(Asp1122Asn) NC_000019.10:15179459:C:T Identity +NM_001134830.2:c.3480G>A NP_001128302.1:p.Met1160Ile NC_000006.12:135300504:C:T p.(Met1160Ile) NC_000006.12:135300504:C:T p.(Met1160Ile) NC_000006.12:135300504:C:T Identity +NM_004447.6:c.712G>A NP_004438.3:p.Ala238Thr NC_000012.12:15665779:C:T p.(Ala238Thr) NC_000012.12:15665779:C:T p.(Ala238Thr) NC_000012.12:15665779:C:T Identity +NM_000536.4:c.334A>G NP_000527.2:p.Ile112Val NC_000011.10:36593834:T:C p.(Ile112Val) NC_000011.10:36593834:T:C p.(Ile112Val) NC_000011.10:36593834:T:C Identity +NM_032043.3:c.926C>T NP_114432.2:p.Ser309Phe NC_000017.11:61801466:G:A p.(Ser309Phe) NC_000017.11:61801466:G:A p.(Ser309Phe) NC_000017.11:61801466:G:A Identity +NM_001376.5:c.5291C>T NP_001367.2:p.Thr1764Ile NC_000014.9:102005093:C:T p.(Thr1764Ile) NC_000014.9:102005093:C:T p.(Thr1764Ile) NC_000014.9:102005093:C:T Identity +NM_001282225.2:c.514G>C NP_001269154.1:p.Val172Leu NC_000022.11:17207098:C:G p.(Val172Leu) NC_000022.11:17207098:C:G p.(Val172Leu) NC_000022.11:17207098:C:G Identity +NM_000426.4:c.6909G>A NP_000417.3:p.Met2303Ile NC_000006.12:129460240:G:A p.(Met2303Ile) NC_000006.12:129460240:G:A p.(Met2303Ile) NC_000006.12:129460240:G:A Identity +NM_001351278.2:c.200dup NP_001338207.1:p.Leu69fs NC_000017.11:8175830:A:AA p.(Leu69ProfsTer30) NC_000017.11:8175830:A:AA p.(Leu69ProfsTer30) ERR:SPDI Analogous +NM_001710.6:c.677C>T NP_001701.2:p.Thr226Ile NC_000006.12:31947759:C:T p.(Thr226Ile) NC_000006.12:31947759:C:T p.(Thr226Ile) NC_000006.12:31947759:C:T Identity +NM_001105206.3:c.2665A>C NP_001098676.2:p.Asn889His NC_000006.12:112142120:T:G p.(Asn889His) NC_000006.12:112142120:T:G p.(Asn889His) NC_000006.12:112142120:T:G Identity +NM_001350234.2:c.1333G>A NP_001337163.1:p.Val445Ile NC_000001.11:9720010:G:A p.(Val445Ile) NC_000001.11:9720010:G:A p.(Val445Ile) NC_000001.11:9720010:G:A Identity +NM_003924.4:c.404T>A NP_003915.2:p.Ile135Asn NC_000004.12:41747373:A:T p.(Ile135Asn) NC_000004.12:41747373:A:T p.(Ile135Asn) NC_000004.12:41747373:A:T Identity +NM_002876.4:c.347C>G NP_002867.1:p.Pro116Arg NC_000017.11:58695131:C:G p.(Pro116Arg) NC_000017.11:58695131:C:G p.(Pro116Arg) NC_000017.11:58695131:C:G Identity +NM_001282237.2:c.100G>T NP_001269166.1:p.Gly34Cys NC_000014.9:99257794:C:A p.(Gly34Cys) NC_000014.9:99257794:C:A p.(Gly34Cys) NC_000014.9:99257794:C:A Identity +NM_014171.6:c.150T>A NP_054890.1:p.Tyr50Ter NC_000002.12:46623775:T:A p.(Tyr50Ter) NC_000002.12:46623775:T:A p.(Tyr50Ter) NC_000002.12:46623775:T:A Identity +NM_001346599.2:c.2125del NP_001333528.1:p.Trp709fs NC_000007.14:105567289:TT:T p.(Trp709GlyfsTer35) NC_000007.14:105567289:TT:T p.(Trp709GlyfsTer35) NC_000007.14:105567290:T: Analogous +NM_025137.4:c.6011T>C NP_079413.3:p.Leu2004Ser NC_000015.10:44573740:A:G p.(Leu2004Ser) NC_000015.10:44573740:A:G p.(Leu2004Ser) NC_000015.10:44573740:A:G Identity +NM_018706.7:c.2559C>G NP_061176.4:p.Tyr853Ter NC_000010.11:12118904:C:G p.(Tyr853Ter) NC_000010.11:12118904:C:G p.(Tyr853Ter) NC_000010.11:12118904:C:G Identity +NM_001378454.1:c.7739A>G NP_001365383.1:p.Glu2580Gly NC_000002.12:73489697:A:G p.(Glu2580Gly) NC_000002.12:73489697:A:G p.(Glu2580Gly) NC_000002.12:73489697:A:G Identity +NM_001278511.2:c.2166A>C NP_001265440.1:p.Lys722Asn NC_000015.10:82663917:T:G p.(Lys722Asn) NC_000015.10:82663917:T:G p.(Lys722Asn) NC_000015.10:82663917:T:G Identity +NM_001371986.1:c.1255T>A NP_001358915.1:p.Ser419Thr NC_000002.12:209815310:T:A p.(Ser419Thr) NC_000002.12:209815310:T:A p.(Ser419Thr) NC_000002.12:209815310:T:A Identity +NM_022454.4:c.284A>G NP_071899.1:p.Asn95Ser NC_000008.11:54458421:A:G p.(Asn95Ser) NC_000008.11:54458421:A:G p.(Asn95Ser) NC_000008.11:54458421:A:G Identity +NM_052854.4:c.1489G>A NP_443086.1:p.Asp497Asn NC_000011.10:46320493:G:A p.(Asp497Asn) NC_000011.10:46320493:G:A p.(Asp497Asn) NC_000011.10:46320493:G:A Identity +NM_000244.4:c.760C>A NP_000235.3:p.Leu254Met NC_000011.10:64807589:G:T p.(Leu254Met) NC_000011.10:64807589:G:T p.(Leu254Met) NC_000011.10:64807589:G:T Identity +NM_001128148.3:c.1575C>G NP_001121620.1:p.Asp525Glu NC_000003.12:196058593:G:C p.(Asp525Glu) NC_000003.12:196058593:G:C p.(Asp525Glu) NC_000003.12:196058593:G:C Identity +NM_001297778.1:c.491C>T NP_001284707.1:p.Ala164Val NC_000001.11:9982351:C:T p.(Ala164Val) NC_000001.11:9982351:C:T p.(Ala164Val) NC_000001.11:9982351:C:T Identity +NM_001365999.1:c.4549C>T NP_001352928.1:p.Arg1517Cys NC_000001.11:43430563:C:T p.(Arg1517Cys) NC_000001.11:43430563:C:T p.(Arg1517Cys) NC_000001.11:43430563:C:T Identity +NM_001306153.1:c.1328A>G NP_001293082.1:p.Glu443Gly NC_000005.10:10263206:A:G p.(Glu443Gly) NC_000005.10:10263206:A:G p.(Glu443Gly) NC_000005.10:10263206:A:G Identity +NM_001353765.2:c.1018G>A NP_001340694.1:p.Glu340Lys NC_000002.12:29193864:C:T p.(Glu340Lys) NC_000002.12:29193864:C:T p.(Glu340Lys) NC_000002.12:29193864:C:T Identity +NM_001287424.2:c.440C>T NP_001274353.1:p.Pro147Leu NC_000019.10:33302079:G:A p.(Pro147Leu) NC_000019.10:33302079:G:A p.(Pro147Leu) NC_000019.10:33302079:G:A Identity +NM_001084.5:c.887C>T NP_001075.1:p.Pro296Leu NC_000007.14:101212647:G:A p.(Pro296Leu) NC_000007.14:101212647:G:A p.(Pro296Leu) NC_000007.14:101212647:G:A Identity +NM_000057.4:c.130G>T NP_000048.1:p.Asp44Tyr NC_000015.10:90749397:G:T p.(Asp44Tyr) NC_000015.10:90749397:G:T p.(Asp44Tyr) NC_000015.10:90749397:G:T Identity +NM_001005373.4:c.1135_1136del NP_001005373.1:p.Ser379fs NC_000009.12:127482992:GAGAG:GAG p.(Ser379ProfsTer5) NC_000009.12:127482992:GAGAG:GAG p.(Ser379ProfsTer5) NC_000009.12:127482995:AG: Analogous +NM_001142800.2:c.5284T>C NP_001136272.1:p.Ser1762Pro NC_000006.12:64590582:A:G p.(Ser1762Pro) NC_000006.12:64590582:A:G p.(Ser1762Pro) NC_000006.12:64590582:A:G Identity +NM_025193.4:c.1088C>A NP_079469.2:p.Ala363Asp NC_000016.10:30988160:C:A p.(Ala363Asp) NC_000016.10:30988160:C:A p.(Ala363Asp) NC_000016.10:30988160:C:A Identity +NM_002872.5:c.347A>G NP_002863.1:p.Lys116Arg NC_000022.11:37231331:T:C p.(Lys116Arg) NC_000022.11:37231331:T:C p.(Lys116Arg) NC_000022.11:37231331:T:C Identity +NM_001149.4:c.2132A>G NP_001140.2:p.Asn711Ser NC_000010.11:60063136:T:C p.(Asn711Ser) NC_000010.11:60063136:T:C p.(Asn711Ser) NC_000010.11:60063136:T:C Identity +NM_000180.4:c.2683A>G NP_000171.1:p.Met895Val NC_000017.11:8014964:A:G p.(Met895Val) NC_000017.11:8014964:A:G p.(Met895Val) NC_000017.11:8014964:A:G Identity +NM_001127892.2:c.2170C>G NP_001121364.1:p.Leu724Val NC_000016.10:51139760:G:C p.(Leu724Val) NC_000016.10:51139760:G:C p.(Leu724Val) NC_000016.10:51139760:G:C Identity +NM_000553.6:c.3632T>C NP_000544.2:p.Met1211Thr NC_000008.11:31150399:T:C p.(Met1211Thr) NC_000008.11:31150399:T:C p.(Met1211Thr) NC_000008.11:31150399:T:C Identity +NM_133259.4:c.1676A>G NP_573566.2:p.Glu559Gly NC_000002.12:43950573:T:C p.(Glu559Gly) NC_000002.12:43950573:T:C p.(Glu559Gly) NC_000002.12:43950573:T:C Identity +NM_001302960.2:c.46C>T NP_001289889.1:p.Arg16Cys NC_000011.10:67483203:C:T p.(Arg16Cys) NC_000011.10:67483203:C:T p.(Arg16Cys) NC_000011.10:67483203:C:T Identity +NM_006950.3:c.1460C>T NP_008881.2:p.Pro487Leu NC_000023.11:47574523:G:A p.(Pro487Leu) NC_000023.11:47574523:G:A p.(Pro487Leu) NC_000023.11:47574523:G:A Identity +NM_000069.3:c.1087del NP_000060.2:p.Leu363fs NC_000001.11:201085498:GG:G p.(Leu363PhefsTer5) NC_000001.11:201085498:GG:G p.(Leu363PhefsTer5) NC_000001.11:201085498:G: Analogous +NM_003906.5:c.37A>C NP_003897.2:p.Ser13Arg NC_000021.9:46285249:T:G p.(Ser13Arg) NC_000021.9:46285249:T:G p.(Ser13Arg) NC_000021.9:46285249:T:G Identity +NM_015650.4:c.1222T>C NP_056465.2:p.Cys408Arg NC_000002.12:238344558:T:C p.(Cys408Arg) NC_000002.12:238344558:T:C p.(Cys408Arg) NC_000002.12:238344558:T:C Identity +NM_001363813.1:c.503C>A NP_001350742.1:p.Ser168Tyr NC_000017.11:65558117:G:T p.(Ser168Tyr) NC_000017.11:65558117:G:T p.(Ser168Tyr) NC_000017.11:65558117:G:T Identity +NM_032861.4:c.326C>T NP_116250.3:p.Ser109Leu NC_000006.12:158148893:G:A p.(Ser109Leu) NC_000006.12:158148893:G:A p.(Ser109Leu) NC_000006.12:158148893:G:A Identity +NM_178857.6:c.671C>A NP_849188.4:p.Ala224Asp NC_000008.11:10616525:G:T p.(Ala224Asp) NC_000008.11:10616525:G:T p.(Ala224Asp) NC_000008.11:10616525:G:T Identity +NM_001277971.2:c.968C>T NP_001264900.1:p.Thr323Ile NC_000008.11:43122791:C:T p.(Thr323Ile) NC_000008.11:43122791:C:T p.(Thr323Ile) NC_000008.11:43122791:C:T Identity +NM_000138.5:c.5147A>T NP_000129.3:p.Lys1716Met NC_000015.10:48463158:T:A p.(Lys1716Met) NC_000015.10:48463158:T:A p.(Lys1716Met) NC_000015.10:48463158:T:A Identity +NM_001130455.2:c.764T>G NP_001123927.1:p.Ile255Ser NC_000002.12:71515719:T:G p.(Ile255Ser) NC_000002.12:71515719:T:G p.(Ile255Ser) NC_000002.12:71515719:T:G Identity +NM_001293306.2:c.170T>G NP_001280235.2:p.Leu57Trp NC_000003.12:38793840:A:C p.(Leu57Trp) NC_000003.12:38793840:A:C p.(Leu57Trp) NC_000003.12:38793840:A:C Identity +NM_001184751.2:c.340G>A NP_001171680.1:p.Ala114Thr NC_000011.10:46702736:G:A p.(Ala114Thr) NC_000011.10:46702736:G:A p.(Ala114Thr) NC_000011.10:46702736:G:A Identity +NM_000368.5:c.232G>C NP_000359.1:p.Glu78Gln NC_000009.12:132925717:C:G p.(Glu78Gln) NC_000009.12:132925717:C:G p.(Glu78Gln) NC_000009.12:132925717:C:G Identity +NM_001128617.3:c.1154G>A NP_001122089.1:p.Gly385Asp NC_000006.12:138930079:C:T p.(Gly385Asp) NC_000006.12:138930079:C:T p.(Gly385Asp) NC_000006.12:138930079:C:T Identity +NM_020919.4:c.4528C>T NP_065970.2:p.Arg1510Ter NC_000002.12:201706897:G:A p.(Arg1510Ter) NC_000002.12:201706897:G:A p.(Arg1510Ter) NC_000002.12:201706897:G:A Identity +NM_178170.3:c.437G>T NP_835464.1:p.Gly146Val NC_000017.11:28734954:G:T p.(Gly146Val) NC_000017.11:28734954:G:T p.(Gly146Val) NC_000017.11:28734954:G:T Identity +NM_001083926.2:c.871G>C NP_001077395.1:p.Gly291Arg NC_000011.10:62392227:G:C p.(Gly291Arg) NC_000011.10:62392227:G:C p.(Gly291Arg) NC_000011.10:62392227:G:C Identity +NM_003327.4:c.808G>A NP_003318.1:p.Ala270Thr NC_000001.11:1211580:C:T p.(Ala270Thr) NC_000001.11:1211580:C:T p.(Ala270Thr) NC_000001.11:1211580:C:T Identity +NM_001136138.4:c.659C>T NP_001129610.1:p.Pro220Leu NC_000001.11:213129748:C:T p.(Pro220Leu) NC_000001.11:213129748:C:T p.(Pro220Leu) NC_000001.11:213129748:C:T Identity +NM_003742.4:c.1621A>C NP_003733.2:p.Ile541Leu NC_000002.12:168971863:T:G p.(Ile541Leu) NC_000002.12:168971863:T:G p.(Ile541Leu) NC_000002.12:168971863:T:G Identity +NM_001388492.1:c.6393G>C NP_001375421.1:p.Met2131Ile NC_000004.12:3209927:G:C p.(Met2131Ile) NC_000004.12:3209927:G:C p.(Met2131Ile) NC_000004.12:3209927:G:C Identity +NM_020699.4:c.862A>G NP_065750.1:p.Thr288Ala NC_000001.11:153817409:T:C p.(Thr288Ala) NC_000001.11:153817409:T:C p.(Thr288Ala) NC_000001.11:153817409:T:C Identity +NM_001371986.1:c.7685T>C NP_001358915.1:p.Leu2562Ser NC_000002.12:209959586:T:C p.(Leu2562Ser) NC_000002.12:209959586:T:C p.(Leu2562Ser) NC_000002.12:209959586:T:C Identity +NM_004329.3:c.97dup NP_004320.2:p.Thr33fs NC_000010.11:86890090:A:AA p.(Thr33AsnfsTer38) NC_000010.11:86890090:A:AA p.(Thr33AsnfsTer38) ERR:SPDI Analogous +NM_000271.5:c.2521A>G NP_000262.2:p.Ile841Val NC_000018.10:23540530:T:C p.(Ile841Val) NC_000018.10:23540530:T:C p.(Ile841Val) NC_000018.10:23540530:T:C Identity +NM_000782.5:c.22A>G NP_000773.2:p.Ser8Gly NC_000020.11:54173557:T:C p.(Ser8Gly) NC_000020.11:54173557:T:C p.(Ser8Gly) NC_000020.11:54173557:T:C Identity +NM_001318219.1:c.2743G>A NP_001305148.1:p.Asp915Asn NC_000020.11:35503007:G:A p.(Asp915Asn) NC_000020.11:35503007:G:A p.(Asp915Asn) NC_000020.11:35503007:G:A Identity +NM_001305275.2:c.5215C>T NP_001292204.1:p.Arg1739Cys NC_000001.11:1050798:C:T p.(Arg1739Cys) NC_000001.11:1050798:C:T p.(Arg1739Cys) NC_000001.11:1050798:C:T Identity +NM_000551.4:c.535G>C NP_000542.1:p.Asp179His NC_000003.12:10149857:G:C p.(Asp179His) NC_000003.12:10149857:G:C p.(Asp179His) NC_000003.12:10149857:G:C Identity +NM_001272003.2:c.428C>T NP_001258932.1:p.Thr143Met NC_000009.12:135756903:C:T p.(Thr143Met) NC_000009.12:135756903:C:T p.(Thr143Met) NC_000009.12:135756903:C:T Identity +NM_004373.4:c.310A>G NP_004364.2:p.Thr104Ala NC_000012.12:120440516:A:G p.(Thr104Ala) NC_000012.12:120440516:A:G p.(Thr104Ala) NC_000012.12:120440516:A:G Identity +NM_001261406.2:c.2227G>A NP_001248335.1:p.Gly743Arg NC_000009.12:13188920:C:T p.(Gly743Arg) NC_000009.12:13188920:C:T p.(Gly743Arg) NC_000009.12:13188920:C:T Identity +NM_001032282.4:c.1030G>T NP_001027453.1:p.Ala344Ser NC_000008.11:102651268:C:A p.(Ala344Ser) NC_000008.11:102651268:C:A p.(Ala344Ser) NC_000008.11:102651268:C:A Identity +NM_001166136.2:c.269A>T NP_001159608.1:p.Lys90Ile NC_000004.12:5691274:T:A p.(Lys90Ile) NC_000004.12:5691274:T:A p.(Lys90Ile) NC_000004.12:5691274:T:A Identity +NM_000416.3:c.67G>A NP_000407.1:p.Asp23Asn NC_000006.12:137219260:C:T p.(Asp23Asn) NC_000006.12:137219260:C:T p.(Asp23Asn) NC_000006.12:137219260:C:T Identity +NM_001357321.2:c.647del NP_001344250.1:p.Gly216fs NC_000002.12:43852433:GGGGGG:GGGGG p.(Gly216ValfsTer37) NC_000002.12:43852433:GGGGGG:GGGGG p.(Gly216ValfsTer37) NC_000002.12:43852438:G: Analogous +NM_001099679.2:c.86A>G NP_001093149.1:p.Glu29Gly NC_000009.12:116697827:A:G p.(Glu29Gly) NC_000009.12:116697827:A:G p.(Glu29Gly) NC_000009.12:116697827:A:G Identity +NM_001844.5:c.3262A>G NP_001835.3:p.Arg1088Gly NC_000012.12:47977330:T:C p.(Arg1088Gly) NC_000012.12:47977330:T:C p.(Arg1088Gly) NC_000012.12:47977330:T:C Identity +NM_001853.4:c.1588G>C NP_001844.3:p.Gly530Arg NC_000020.11:62836516:G:C p.(Gly530Arg) NC_000020.11:62836516:G:C p.(Gly530Arg) NC_000020.11:62836516:G:C Identity +NM_001384466.1:c.866C>T NP_001371395.1:p.Thr289Met NC_000011.10:64117132:C:T p.(Thr289Met) NC_000011.10:64117132:C:T p.(Thr289Met) NC_000011.10:64117132:C:T Identity +NM_000057.4:c.1794_1797del NP_000048.1:p.Glu598fs NC_000015.10:90761163:AGAAAGA:AGA p.(Glu598AspfsTer19) NC_000015.10:90761163:AGAAAGA:AGA p.(Glu598AspfsTer19) NC_000015.10:90761166:AAGA: Analogous +NM_019096.5:c.165C>A NP_061969.3:p.Asn55Lys NC_000006.12:43628997:G:T p.(Asn55Lys) NC_000006.12:43628997:G:T p.(Asn55Lys) NC_000006.12:43628997:G:T Identity +NM_006172.4:c.372C>A NP_006163.1:p.Ser124Arg NC_000001.11:11847190:G:T p.(Ser124Arg) NC_000001.11:11847190:G:T p.(Ser124Arg) NC_000001.11:11847190:G:T Identity +NM_020778.5:c.2849G>A NP_065829.4:p.Arg950Gln NC_000015.10:84857586:G:A p.(Arg950Gln) NC_000015.10:84857586:G:A p.(Arg950Gln) NC_000015.10:84857586:G:A Identity +NM_001272003.2:c.1147C>T NP_001258932.1:p.Arg383Trp NC_000009.12:135765704:C:T p.(Arg383Trp) NC_000009.12:135765704:C:T p.(Arg383Trp) NC_000009.12:135765704:C:T Identity +NM_001003800.2:c.2428C>T NP_001003800.1:p.Arg810Cys NC_000009.12:92715293:G:A p.(Arg810Cys) NC_000009.12:92715293:G:A p.(Arg810Cys) NC_000009.12:92715293:G:A Identity +NM_001083908.2:c.1612A>C NP_001077377.1:p.Ile538Leu NC_000014.9:49633537:T:G p.(Ile538Leu) NC_000014.9:49633537:T:G p.(Ile538Leu) NC_000014.9:49633537:T:G Identity +NM_001145527.2:c.983G>A NP_001138999.1:p.Gly328Glu NC_000009.12:137743902:G:A p.(Gly328Glu) NC_000009.12:137743902:G:A p.(Gly328Glu) NC_000009.12:137743902:G:A Identity +NM_001111.5:c.746C>T NP_001102.3:p.Ser249Leu NC_000001.11:154601895:G:A p.(Ser249Leu) NC_000001.11:154601895:G:A p.(Ser249Leu) NC_000001.11:154601895:G:A Identity +NM_002473.6:c.4797G>C NP_002464.1:p.Glu1599Asp NC_000022.11:36288386:C:G p.(Glu1599Asp) NC_000022.11:36288386:C:G p.(Glu1599Asp) NC_000022.11:36288386:C:G Identity +NM_001277115.2:c.136G>C NP_001264044.1:p.Ala46Pro NC_000007.14:21543380:G:C p.(Ala46Pro) NC_000007.14:21543380:G:C p.(Ala46Pro) NC_000007.14:21543380:G:C Identity +NM_001256850.1:c.36403dup NP_001243779.1:p.Glu12135fs NC_000002.12:178636400:C:CC p.(Glu12135GlyfsTer34) NC_000002.12:178636400:C:CC p.(Glu12135GlyfsTer34) ERR:SPDI Analogous +NM_001145860.2:c.3031G>A NP_001139332.1:p.Ala1011Thr NC_000008.11:98158226:G:A p.(Ala1011Thr) NC_000008.11:98158226:G:A p.(Ala1011Thr) NC_000008.11:98158226:G:A Identity +NM_000548.5:c.4185G>C NP_000539.2:p.Gln1395His NC_000016.10:2084406:G:C p.(Gln1395His) NC_000016.10:2084406:G:C p.(Gln1395His) NC_000016.10:2084406:G:C Identity +NM_000260.4:c.5072G>A NP_000251.3:p.Arg1691Lys NC_000011.10:77202327:G:A p.(Arg1691Lys) NC_000011.10:77202327:G:A p.(Arg1691Lys) NC_000011.10:77202327:G:A Identity +NM_016239.4:c.10253T>C NP_057323.3:p.Phe3418Ser NC_000017.11:18172192:T:C p.(Phe3418Ser) NC_000017.11:18172192:T:C p.(Phe3418Ser) NC_000017.11:18172192:T:C Identity +NM_080679.3:c.814C>T NP_542410.2:p.Arg272Ter NC_000006.12:33181154:G:A p.(Arg272Ter) NC_000006.12:33181154:G:A p.(Arg272Ter) NC_000006.12:33181154:G:A Identity +NM_001145808.2:c.1793G>A NP_001139280.1:p.Gly598Glu NC_000016.10:31321322:G:A p.(Gly598Glu) NC_000016.10:31321322:G:A p.(Gly598Glu) NC_000016.10:31321322:G:A Identity +NM_000177.5:c.1343A>G NP_000168.1:p.Gln448Arg NC_000009.12:121318878:A:G p.(Gln448Arg) NC_000009.12:121318878:A:G p.(Gln448Arg) NC_000009.12:121318878:A:G Identity +NM_001378285.1:c.1090G>A NP_001365214.1:p.Val364Met NC_000003.12:149961047:G:A p.(Val364Met) NC_000003.12:149961047:G:A p.(Val364Met) NC_000003.12:149961047:G:A Identity +NM_001252020.2:c.1328T>G NP_001238949.1:p.Leu443Arg NC_000015.10:31050568:A:C p.(Leu443Arg) NC_000015.10:31050568:A:C p.(Leu443Arg) NC_000015.10:31050568:A:C Identity +NM_001145102.2:c.902G>A NP_001138574.1:p.Trp301Ter NC_000015.10:67190474:G:A p.(Trp301Ter) NC_000015.10:67190474:G:A p.(Trp301Ter) NC_000015.10:67190474:G:A Identity +NM_001369.3:c.6844del NP_001360.1:p.Cys2282fs NC_000005.10:13817691:AA:A p.(Cys2282ValfsTer8) NC_000005.10:13817691:AA:A p.(Cys2282ValfsTer8) NC_000005.10:13817691:A: Analogous +NM_144643.4:c.702G>T NP_653244.2:p.Glu234Asp NC_000004.12:128970452:C:A p.(Glu234Asp) NC_000004.12:128970452:C:A p.(Glu234Asp) NC_000004.12:128970452:C:A Identity +NM_001190983.2:c.263C>T NP_001177912.1:p.Thr88Ile NC_000016.10:19075729:C:T p.(Thr88Ile) NC_000016.10:19075729:C:T p.(Thr88Ile) NC_000016.10:19075729:C:T Identity +NM_001135999.2:c.236G>A NP_001129471.2:p.Arg79Gln NC_000009.12:35546756:G:A p.(Arg79Gln) NC_000009.12:35546756:G:A p.(Arg79Gln) NC_000009.12:35546756:G:A Identity +NM_030582.4:c.200G>A NP_085059.2:p.Arg67Gln NC_000021.9:45455729:G:A p.(Arg67Gln) NC_000021.9:45455729:G:A p.(Arg67Gln) NC_000021.9:45455729:G:A Identity +NM_000426.4:c.3445C>T NP_000417.3:p.Arg1149Trp NC_000006.12:129314687:C:T p.(Arg1149Trp) NC_000006.12:129314687:C:T p.(Arg1149Trp) NC_000006.12:129314687:C:T Identity +NM_000090.4:c.113C>A NP_000081.2:p.Ser38Tyr NC_000002.12:188984792:C:A p.(Ser38Tyr) NC_000002.12:188984792:C:A p.(Ser38Tyr) NC_000002.12:188984792:C:A Identity +NM_001318245.2:c.20T>G NP_001305174.1:p.Leu7Arg NC_000022.11:25761111:T:G p.(Leu7Arg) NC_000022.11:25761111:T:G p.(Leu7Arg) NC_000022.11:25761111:T:G Identity +NM_006059.4:c.3814G>A NP_006050.3:p.Ala1272Thr NC_000009.12:131079184:G:A p.(Ala1272Thr) NC_000009.12:131079184:G:A p.(Ala1272Thr) NC_000009.12:131079184:G:A Identity +NM_001197115.2:c.1385G>A NP_001184044.1:p.Gly462Asp NC_000006.12:53500328:C:T p.(Gly462Asp) NC_000006.12:53500328:C:T p.(Gly462Asp) NC_000006.12:53500328:C:T Identity +NM_032119.4:c.12436C>G NP_115495.3:p.Arg4146Gly NC_000005.10:90776484:C:G p.(Arg4146Gly) NC_000005.10:90776484:C:G p.(Arg4146Gly) NC_000005.10:90776484:C:G Identity +NM_001164507.2:c.8027A>G NP_001157979.2:p.Glu2676Gly NC_000002.12:151643282:T:C p.(Glu2676Gly) NC_000002.12:151643282:T:C p.(Glu2676Gly) NC_000002.12:151643282:T:C Identity +NM_004369.4:c.5461C>T NP_004360.2:p.His1821Tyr NC_000002.12:237366725:G:A p.(His1821Tyr) NC_000002.12:237366725:G:A p.(His1821Tyr) NC_000002.12:237366725:G:A Identity +NM_000195.5:c.1870C>T NP_000186.2:p.Gln624Ter NC_000010.11:98418244:G:A p.(Gln624Ter) NC_000010.11:98418244:G:A p.(Gln624Ter) NC_000010.11:98418244:G:A Identity +NM_001382708.1:c.1101_1102delinsAT NP_001369637.1:p.Arg368Cys NC_000002.12:219421419:GC:AT p.(Arg368Cys) NC_000002.12:219421419:GC:AT p.(Arg368Cys) NC_000002.12:219421419:GC:AT Identity +NM_001318245.2:c.5012G>A NP_001305174.1:p.Arg1671Gln NC_000022.11:25903691:G:A p.(Arg1671Gln) NC_000022.11:25903691:G:A p.(Arg1671Gln) NC_000022.11:25903691:G:A Identity +NM_005876.5:c.3202C>T NP_005867.3:p.Arg1068Trp NC_000002.12:219468636:C:T p.(Arg1068Trp) NC_000002.12:219468636:C:T p.(Arg1068Trp) NC_000002.12:219468636:C:T Identity +NM_001572.5:c.553C>T NP_001563.2:p.Gln185Ter NC_000011.10:614299:G:A p.(Gln185Ter) NC_000011.10:614299:G:A p.(Gln185Ter) NC_000011.10:614299:G:A Identity +NM_001367759.1:c.1279A>G NP_001354688.1:p.Ile427Val NC_000006.12:121292145:T:C p.(Ile427Val) NC_000006.12:121292145:T:C p.(Ile427Val) NC_000006.12:121292145:T:C Identity +NM_001378454.1:c.6853C>G NP_001365383.1:p.Arg2285Gly NC_000002.12:73453379:C:G p.(Arg2285Gly) NC_000002.12:73453379:C:G p.(Arg2285Gly) NC_000002.12:73453379:C:G Identity +NM_015512.5:c.3756C>G NP_056327.4:p.Ser1252Arg NC_000003.12:52356675:C:G p.(Ser1252Arg) NC_000003.12:52356675:C:G p.(Ser1252Arg) NC_000003.12:52356675:C:G Identity +NM_001261826.3:c.3640A>G NP_001248755.1:p.Lys1214Glu NC_000019.10:2102180:T:C p.(Lys1214Glu) NC_000019.10:2102180:T:C p.(Lys1214Glu) NC_000019.10:2102180:T:C Identity +NM_001277115.2:c.5675C>A NP_001264044.1:p.Ala1892Asp NC_000007.14:21687151:C:A p.(Ala1892Asp) NC_000007.14:21687151:C:A p.(Ala1892Asp) NC_000007.14:21687151:C:A Identity +NM_000077.5:c.8C>T NP_000068.1:p.Pro3Leu NC_000009.12:21974819:G:A p.(Pro3Leu) NC_000009.12:21974819:G:A p.(Pro3Leu) NC_000009.12:21974819:G:A Identity +NM_001165928.4:c.1358C>T NP_001159400.3:p.Pro453Leu NC_000003.12:49531868:C:T p.(Pro453Leu) NC_000003.12:49531868:C:T p.(Pro453Leu) NC_000003.12:49531868:C:T Identity +NM_002185.5:c.1274T>C NP_002176.2:p.Ile425Thr NC_000005.10:35876379:T:C p.(Ile425Thr) NC_000005.10:35876379:T:C p.(Ile425Thr) NC_000005.10:35876379:T:C Identity +NM_001308301.1:c.745G>C NP_001295230.1:p.Glu249Gln NC_000016.10:46729027:C:G p.(Glu249Gln) NC_000016.10:46729027:C:G p.(Glu249Gln) NC_000016.10:46729027:C:G Identity +NM_000440.3:c.1997T>C NP_000431.2:p.Ile666Thr NC_000005.10:149884508:A:G p.(Ile666Thr) NC_000005.10:149884508:A:G p.(Ile666Thr) NC_000005.10:149884508:A:G Identity +NM_001358530.2:c.554C>T NP_001345459.1:p.Ala185Val NC_000006.12:39916096:G:A p.(Ala185Val) NC_000006.12:39916096:G:A p.(Ala185Val) NC_000006.12:39916096:G:A Identity +NM_025014.2:c.38C>T NP_079290.1:p.Thr13Met NC_000017.11:8312076:C:T p.(Thr13Met) NC_000017.11:8312076:C:T p.(Thr13Met) NC_000017.11:8312076:C:T Identity +NM_001376.5:c.13266G>C NP_001367.2:p.Lys4422Asn NC_000014.9:102048562:G:C p.(Lys4422Asn) NC_000014.9:102048562:G:C p.(Lys4422Asn) NC_000014.9:102048562:G:C Identity +NM_001261406.2:c.2636C>T NP_001248335.1:p.Ser879Leu NC_000009.12:13183430:G:A p.(Ser879Leu) NC_000009.12:13183430:G:A p.(Ser879Leu) NC_000009.12:13183430:G:A Identity +NM_001849.4:c.1058C>T NP_001840.3:p.Pro353Leu NC_000021.9:46117877:C:T p.(Pro353Leu) NC_000021.9:46117877:C:T p.(Pro353Leu) NC_000021.9:46117877:C:T Identity +NM_030928.4:c.878A>G NP_112190.2:p.Gln293Arg NC_000016.10:88806065:A:G p.(Gln293Arg) NC_000016.10:88806065:A:G p.(Gln293Arg) NC_000016.10:88806065:A:G Identity +NM_001014763.1:c.979G>A NP_001014763.1:p.Gly327Ser NC_000019.10:51345272:C:T p.(Gly327Ser) NC_000019.10:51345272:C:T p.(Gly327Ser) NC_000019.10:51345272:C:T Identity +NM_001317799.2:c.77C>T NP_001304728.1:p.Ser26Phe NC_000004.12:122923218:C:T p.(Ser26Phe) NC_000004.12:122923218:C:T p.(Ser26Phe) NC_000004.12:122923218:C:T Identity +NM_001377456.1:c.113G>A NP_001364385.1:p.Gly38Asp NC_000016.10:56519749:C:T p.(Gly38Asp) NC_000016.10:56519749:C:T p.(Gly38Asp) NC_000016.10:56519749:C:T Identity +NM_004706.4:c.2317C>T NP_004697.2:p.Pro773Ser NC_000019.10:41905241:C:T p.(Pro773Ser) NC_000019.10:41905241:C:T p.(Pro773Ser) NC_000019.10:41905241:C:T Identity +NM_017890.5:c.7405T>A NP_060360.3:p.Ser2469Thr NC_000008.11:99776856:T:A p.(Ser2469Thr) NC_000008.11:99776856:T:A p.(Ser2469Thr) NC_000008.11:99776856:T:A Identity +NM_000251.3:c.1068A>G NP_000242.1:p.Ile356Met NC_000002.12:47416420:A:G p.(Ile356Met) NC_000002.12:47416420:A:G p.(Ile356Met) NC_000002.12:47416420:A:G Identity +NM_001042399.2:c.1183C>G NP_001035858.1:p.Gln395Glu NC_000012.12:94368066:G:C p.(Gln395Glu) NC_000012.12:94368066:G:C p.(Gln395Glu) NC_000012.12:94368066:G:C Identity +NM_015506.3:c.162C>G NP_056321.2:p.Ser54Arg NC_000001.11:45507435:C:G p.(Ser54Arg) NC_000001.11:45507435:C:G p.(Ser54Arg) NC_000001.11:45507435:C:G Identity +NM_001374839.1:c.1075C>T NP_001361768.1:p.Gln359Ter NC_000008.11:144413811:G:A p.(Gln359Ter) NC_000008.11:144413811:G:A p.(Gln359Ter) NC_000008.11:144413811:G:A Identity +NM_020529.3:c.887C>T NP_065390.1:p.Thr296Met NC_000014.9:35402412:G:A p.(Thr296Met) NC_000014.9:35402412:G:A p.(Thr296Met) NC_000014.9:35402412:G:A Identity +NM_001080976.3:c.1536A>C NP_001074445.1:p.Lys512Asn NC_000006.12:116436003:A:C p.(Lys512Asn) NC_000006.12:116436003:A:C p.(Lys512Asn) NC_000006.12:116436003:A:C Identity +NM_001127487.2:c.3407C>T NP_001120959.1:p.Ala1136Val NC_000007.14:128844871:C:T p.(Ala1136Val) NC_000007.14:128844871:C:T p.(Ala1136Val) NC_000007.14:128844871:C:T Identity +NM_014727.3:c.5761C>A NP_055542.1:p.Pro1921Thr NC_000019.10:35732309:C:A p.(Pro1921Thr) NC_000019.10:35732309:C:A p.(Pro1921Thr) NC_000019.10:35732309:C:A Identity +NM_014225.6:c.448C>G NP_055040.2:p.Leu150Val NC_000019.10:52211436:C:G p.(Leu150Val) NC_000019.10:52211436:C:G p.(Leu150Val) NC_000019.10:52211436:C:G Identity +NM_000086.2:c.403G>A NP_000077.1:p.Ala135Thr NC_000016.10:28487512:C:T p.(Ala135Thr) NC_000016.10:28487512:C:T p.(Ala135Thr) NC_000016.10:28487512:C:T Identity +NM_001195573.1:c.2580del NP_001182502.1:p.Glu861fs NC_000014.9:95107949:AA:A p.(Glu861LysfsTer5) NC_000014.9:95107949:AA:A p.(Glu861LysfsTer5) NC_000014.9:95107949:A: Analogous +NM_001385678.1:c.502A>G NP_001372607.1:p.Ile168Val NC_000019.10:4817833:T:C p.(Ile168Val) NC_000019.10:4817833:T:C p.(Ile168Val) NC_000019.10:4817833:T:C Identity +NM_021942.6:c.1639C>A NP_068761.4:p.Pro547Thr NC_000004.12:183685279:C:A p.(Pro547Thr) NC_000004.12:183685279:C:A p.(Pro547Thr) NC_000004.12:183685279:C:A Identity +NM_001029883.3:c.1868T>C NP_001025054.1:p.Leu623Pro NC_000002.12:29072393:A:G p.(Leu623Pro) NC_000002.12:29072393:A:G p.(Leu623Pro) NC_000002.12:29072393:A:G Identity +NM_001271427.2:c.2822T>C NP_001258356.1:p.Ile941Thr NC_000001.11:19219459:A:G p.(Ile941Thr) NC_000001.11:19219459:A:G p.(Ile941Thr) NC_000001.11:19219459:A:G Identity +NM_001206927.2:c.229C>T NP_001193856.1:p.His77Tyr NC_000006.12:38723037:C:T p.(His77Tyr) NC_000006.12:38723037:C:T p.(His77Tyr) NC_000006.12:38723037:C:T Identity +NM_016580.4:c.37G>T NP_057664.1:p.Gly13Trp NC_000005.10:141957814:C:A p.(Gly13Trp) NC_000005.10:141957814:C:A p.(Gly13Trp) NC_000005.10:141957814:C:A Identity +NM_001128602.2:c.497G>A NP_001122074.1:p.Cys166Tyr NC_000015.10:38518315:C:T p.(Cys166Tyr) NC_000015.10:38518315:C:T p.(Cys166Tyr) NC_000015.10:38518315:C:T Identity +NM_001127396.3:c.1345G>C NP_001120868.1:p.Gly449Arg NC_000019.10:7645303:G:C p.(Gly449Arg) NC_000019.10:7645303:G:C p.(Gly449Arg) NC_000019.10:7645303:G:C Identity +NM_000444.6:c.1951del NP_000435.3:p.Arg651fs NC_000023.11:22226493:C: p.(Arg651GlyfsTer11) NC_000023.11:22226493:C: p.(Arg651GlyfsTer11) NC_000023.11:22226493:C: Analogous +NM_001174146.2:c.937A>C NP_001167617.1:p.Met313Leu NC_000009.12:126695855:A:C p.(Met313Leu) NC_000009.12:126695855:A:C p.(Met313Leu) NC_000009.12:126695855:A:C Identity +NM_001166226.2:c.1415G>A NP_001159698.1:p.Arg472Gln NC_000005.10:123386604:C:T p.(Arg472Gln) NC_000005.10:123386604:C:T p.(Arg472Gln) NC_000005.10:123386604:C:T Identity +NM_001384732.1:c.8924A>G NP_001371661.1:p.Gln2975Arg NC_000005.10:37125277:T:C p.(Gln2975Arg) NC_000005.10:37125277:T:C p.(Gln2975Arg) NC_000005.10:37125277:T:C Identity +NM_001346897.2:c.2275G>A NP_001333826.1:p.Glu759Lys NC_000007.14:55181418:G:A p.(Glu759Lys) NC_000007.14:55181418:G:A p.(Glu759Lys) NC_000007.14:55181418:G:A Identity +NM_001130081.3:c.1319G>C NP_001123553.1:p.Arg440Pro NC_000003.12:171692350:C:G p.(Arg440Pro) NC_000003.12:171692350:C:G p.(Arg440Pro) NC_000003.12:171692350:C:G Identity +NM_015072.5:c.3662C>A NP_055887.3:p.Ser1221Tyr NC_000014.9:75882823:C:A p.(Ser1221Tyr) NC_000014.9:75882823:C:A p.(Ser1221Tyr) NC_000014.9:75882823:C:A Identity +NM_001013838.3:c.2413C>T NP_001013860.1:p.Arg805Cys NC_000016.10:67651499:C:T p.(Arg805Cys) NC_000016.10:67651499:C:T p.(Arg805Cys) NC_000016.10:67651499:C:T Identity +NM_001130438.3:c.617A>T NP_001123910.1:p.Asn206Ile NC_000009.12:128575310:A:T p.(Asn206Ile) NC_000009.12:128575310:A:T p.(Asn206Ile) NC_000009.12:128575310:A:T Identity +NM_001142281.2:c.795T>G NP_001135753.1:p.Phe265Leu NC_000011.10:118592782:T:G p.(Phe265Leu) NC_000011.10:118592782:T:G p.(Phe265Leu) NC_000011.10:118592782:T:G Identity +NM_000553.6:c.1713G>A NP_000544.2:p.Met571Ile NC_000008.11:31090524:G:A p.(Met571Ile) NC_000008.11:31090524:G:A p.(Met571Ile) NC_000008.11:31090524:G:A Identity +NM_013432.5:c.2413C>T NP_038460.4:p.Arg805Trp NC_000008.11:144436019:G:A p.(Arg805Trp) NC_000008.11:144436019:G:A p.(Arg805Trp) NC_000008.11:144436019:G:A Identity +NM_006516.4:c.1164del NP_006507.2:p.Trp388fs NC_000001.11:42927718:CC:C p.(Trp388CysfsTer120) NC_000001.11:42927718:CC:C p.(Trp388CysfsTer120) NC_000001.11:42927718:C: Analogous +NM_015180.6:c.20366C>G NP_055995.4:p.Pro6789Arg NC_000014.9:64224512:C:G p.(Pro6789Arg) NC_000014.9:64224512:C:G p.(Pro6789Arg) NC_000014.9:64224512:C:G Identity +NM_000445.5:c.11347G>C NP_000436.2:p.Glu3783Gln NC_000008.11:143918554:C:G p.(Glu3783Gln) NC_000008.11:143918554:C:G p.(Glu3783Gln) NC_000008.11:143918554:C:G Identity +NM_001285829.2:c.518A>G NP_001272758.1:p.Asn173Ser NC_000019.10:33301539:T:C p.(Asn173Ser) NC_000019.10:33301539:T:C p.(Asn173Ser) NC_000019.10:33301539:T:C Identity +NM_000535.7:c.1336C>T NP_000526.2:p.Pro446Ser NC_000007.14:5987428:G:A p.(Pro446Ser) NC_000007.14:5987428:G:A p.(Pro446Ser) NC_000007.14:5987428:G:A Identity +NM_002796.3:c.631C>T NP_002787.2:p.Arg211Cys NC_000001.11:151401292:C:T p.(Arg211Cys) NC_000001.11:151401292:C:T p.(Arg211Cys) NC_000001.11:151401292:C:T Identity +NM_004260.4:c.1369G>T NP_004251.4:p.Gly457Trp NC_000008.11:144515346:C:A p.(Gly457Trp) NC_000008.11:144515346:C:A p.(Gly457Trp) NC_000008.11:144515346:C:A Identity +NM_001252020.2:c.2976del NP_001238949.1:p.Pro993fs NC_000015.10:31032715:CCCC:CCC p.(Pro993HisfsTer3) NC_000015.10:31032715:CCCC:CCC p.(Pro993HisfsTer3) NC_000015.10:31032715:C: Analogous +NM_001306090.2:c.478_481del NP_001293019.1:p.Ser160fs NC_000004.12:5731516:CAGTC:C p.(Ser160TrpfsTer4) NC_000004.12:5731516:CAGTC:C p.(Ser160TrpfsTer4) NC_000004.12:5731517:AGTC: Analogous +NM_001319034.2:c.3757del NP_001305963.1:p.Ile1253fs NC_000006.12:7579944:AAA:AA p.(Ile1253LeufsTer32) NC_000006.12:7579944:AAA:AA p.(Ile1253LeufsTer32) NC_000006.12:7579946:A: Analogous +NM_001042437.2:c.523A>T NP_001035902.1:p.Ile175Phe NC_000002.12:85847930:T:A p.(Ile175Phe) NC_000002.12:85847930:T:A p.(Ile175Phe) NC_000002.12:85847930:T:A Identity +NM_001379500.1:c.3050C>T NP_001366429.1:p.Pro1017Leu NC_000021.9:45505393:C:T p.(Pro1017Leu) NC_000021.9:45505393:C:T p.(Pro1017Leu) NC_000021.9:45505393:C:T Identity +NM_001160302.2:c.3004G>C NP_001153774.1:p.Asp1002His NC_000021.9:32650216:C:G p.(Asp1002His) NC_000021.9:32650216:C:G p.(Asp1002His) NC_000021.9:32650216:C:G Identity +NM_001304420.3:c.1036A>G NP_001291349.1:p.Ile346Val NC_000003.12:57864616:A:G p.(Ile346Val) NC_000003.12:57864616:A:G p.(Ile346Val) NC_000003.12:57864616:A:G Identity +NM_000155.4:c.327del NP_000146.2:p.Gly110fs NC_000009.12:34647565:A: p.(Gly110AspfsTer28) NC_000009.12:34647565:A: p.(Gly110AspfsTer28) NC_000009.12:34647565:A: Analogous +NM_000272.5:c.1012C>T NP_000263.2:p.Gln338Ter NC_000002.12:110163062:G:A p.(Gln338Ter) NC_000002.12:110163062:G:A p.(Gln338Ter) NC_000002.12:110163062:G:A Identity +NM_001844.5:c.2902G>T NP_001835.3:p.Glu968Ter NC_000012.12:47978391:C:A p.(Glu968Ter) NC_000012.12:47978391:C:A p.(Glu968Ter) NC_000012.12:47978391:C:A Identity +NM_138413.4:c.700G>T NP_612422.2:p.Gly234Ter NC_000010.11:97600162:G:T p.(Gly234Ter) NC_000010.11:97600162:G:T p.(Gly234Ter) NC_000010.11:97600162:G:T Identity +NM_001318785.2:c.97C>T NP_001305714.1:p.Gln33Ter NC_000006.12:87530932:G:A p.(Gln33Ter) NC_000006.12:87530932:G:A p.(Gln33Ter) NC_000006.12:87530932:G:A Identity +NM_006623.4:c.996G>A NP_006614.2:p.Trp332Ter NC_000001.11:119740435:G:A p.(Trp332Ter) NC_000001.11:119740435:G:A p.(Trp332Ter) NC_000001.11:119740435:G:A Identity +NM_001374425.1:c.407G>A NP_001361354.1:p.Arg136His NC_000001.11:2408644:C:T p.(Arg136His) NC_000001.11:2408644:C:T p.(Arg136His) NC_000001.11:2408644:C:T Identity +NM_007055.4:c.1999T>G NP_008986.2:p.Leu667Val NC_000010.11:78007776:A:C p.(Leu667Val) NC_000010.11:78007776:A:C p.(Leu667Val) NC_000010.11:78007776:A:C Identity +NM_000052.7:c.1157T>G NP_000043.4:p.Met386Arg NC_000023.11:77989778:T:G p.(Met386Arg) NC_000023.11:77989778:T:G p.(Met386Arg) NC_000023.11:77989778:T:G Identity +NM_000090.4:c.1859del NP_000081.2:p.Pro620fs NC_000002.12:188997374:CCCCC:CCCC p.(Pro620GlnfsTer171) NC_000002.12:188997374:CCCCC:CCCC p.(Pro620GlnfsTer171) NC_000002.12:188997378:C: Analogous +NM_001277269.2:c.7666C>T NP_001264198.1:p.Arg2556Ter NC_000011.10:17635123:C:T p.(Arg2556Ter) NC_000011.10:17635123:C:T p.(Arg2556Ter) NC_000011.10:17635123:C:T Identity +NM_000304.4:c.117del NP_000295.1:p.Trp39fs NC_000017.11:15259154:CC:C p.(Trp39CysfsTer31) NC_000017.11:15259154:CC:C p.(Trp39CysfsTer31) NC_000017.11:15259154:C: Analogous +NM_001136029.4:c.3132C>A NP_001129501.1:p.Cys1044Ter NC_000022.11:31857447:C:A p.(Cys1044Ter) NC_000022.11:31857447:C:A p.(Cys1044Ter) NC_000022.11:31857447:C:A Identity +NM_001142763.2:c.5820C>G NP_001136235.1:p.Asn1940Lys NC_000010.11:53821926:G:C p.(Asn1940Lys) NC_000010.11:53821926:G:C p.(Asn1940Lys) NC_000010.11:53821926:G:C Identity +NM_000426.4:c.5135del NP_000417.3:p.Arg1712fs NC_000006.12:129391553:G: p.(Arg1712LysfsTer13) NC_000006.12:129391553:G: p.(Arg1712LysfsTer13) NC_000006.12:129391553:G: Analogous +NM_000523.4:c.542_552del NP_000514.2:p.Asn181fs NC_000002.12:176093427:GCCAACGAGGTGCCA:GCCA p.(Asn181SerfsTer52) NC_000002.12:176093427:GCCAACGAGGTGCCA:GCCA p.(Asn181SerfsTer52) NC_000002.12:176093431:ACGAGGTGCCA: Analogous +NM_001048171.2:c.1160_1167dup NP_001041636.2:p.Lys390fs NC_000001.11:45331491:GCGCTGAAGC:GCGCTGAAGCGCTGAAGC p.(Lys390PhefsTer37) NC_000001.11:45331491:GCGCTGAAGC:GCGCTGAAGCGCTGAAGC p.(Lys390PhefsTer37) ERR:SPDI Analogous +NM_000051.4:c.3648del NP_000042.3:p.Leu1217fs NC_000011.10:108282780:T: p.(Leu1217TrpfsTer6) NC_000011.10:108282780:T: p.(Leu1217TrpfsTer6) NC_000011.10:108282780:T: Analogous +NM_000127.3:c.15dup NP_000118.2:p.Arg6fs NC_000008.11:118111031:TTTTTT:TTTTTTT p.(Arg6ThrfsTer24) NC_000008.11:118111031:TTTTTT:TTTTTTT p.(Arg6ThrfsTer24) ERR:SPDI Analogous +NM_000733.4:c.409G>T NP_000724.1:p.Asp137Tyr NC_000011.10:118313762:G:T p.(Asp137Tyr) NC_000011.10:118313762:G:T p.(Asp137Tyr) NC_000011.10:118313762:G:T Identity +NM_000066.4:c.1355G>A NP_000057.3:p.Trp452Ter NC_000001.11:56940891:C:T p.(Trp452Ter) NC_000001.11:56940891:C:T p.(Trp452Ter) NC_000001.11:56940891:C:T Identity +NM_018190.4:c.22A>G NP_060660.2:p.Met8Val NC_000004.12:121870291:T:C p.(Met8Val) NC_000004.12:121870291:T:C p.(Met8Val) NC_000004.12:121870291:T:C Identity +NM_001362836.2:c.772C>T NP_001349765.1:p.Arg258Ter NC_000008.11:105798914:C:T p.(Arg258Ter) NC_000008.11:105798914:C:T p.(Arg258Ter) NC_000008.11:105798914:C:T Identity +NM_020533.3:c.230del NP_065394.1:p.Thr77fs NC_000019.10:7525158:C: p.(Thr77ArgfsTer15) NC_000019.10:7525158:C: p.(Thr77ArgfsTer15) NC_000019.10:7525158:C: Analogous +NM_001135659.3:c.601G>T NP_001129131.1:p.Glu201Ter NC_000002.12:51027672:C:A p.(Glu201Ter) NC_000002.12:51027672:C:A p.(Glu201Ter) NC_000002.12:51027672:C:A Identity +NM_001080463.2:c.2008G>T NP_001073932.1:p.Glu670Ter NC_000011.10:103133608:G:T p.(Glu670Ter) NC_000011.10:103133608:G:T p.(Glu670Ter) NC_000011.10:103133608:G:T Identity +NM_000238.4:c.2118_2121dup NP_000229.1:p.Thr708fs NC_000007.14:150950944:GTAGG:GTAGGTAGG p.(Thr708LeufsTer16) NC_000007.14:150950944:GTAGG:GTAGGTAGG p.(Thr708LeufsTer16) ERR:SPDI Analogous +NM_000260.4:c.358del NP_000251.3:p.Arg120fs NC_000011.10:77155977:CC:C p.(Arg120AlafsTer26) NC_000011.10:77155977:CC:C p.(Arg120AlafsTer26) NC_000011.10:77155978:C: Analogous +NM_000543.5:c.742G>C NP_000534.3:p.Glu248Gln NC_000011.10:6391806:G:C p.(Glu248Gln) NC_000011.10:6391806:G:C p.(Glu248Gln) NC_000011.10:6391806:G:C Identity +NM_000056.5:c.21dup NP_000047.1:p.Ala8fs NC_000006.12:80106713:T:TT p.(Ala8CysfsTer13) NC_000006.12:80106713:T:TT p.(Ala8CysfsTer13) ERR:SPDI Analogous +NM_153240.5:c.2111_2112del NP_694972.3:p.Cys704fs NC_000003.12:132696789:ACA:A p.(Cys704SerfsTer29) NC_000003.12:132696789:ACA:A p.(Cys704SerfsTer29) NC_000003.12:132696789:AC: Analogous +NM_001033855.3:c.1221C>G NP_001029027.1:p.Tyr407Ter NC_000010.11:14909265:G:C p.(Tyr407Ter) NC_000010.11:14909265:G:C p.(Tyr407Ter) NC_000010.11:14909265:G:C Identity +NM_000492.4:c.2959_2960dup NP_000483.3:p.Pro988fs NC_000007.14:117606722:TCT:TCTCT p.(Pro988CysfsTer13) NC_000007.14:117606722:TCT:TCTCT p.(Pro988CysfsTer13) ERR:SPDI Analogous +NM_001142800.2:c.7247C>G NP_001136272.1:p.Pro2416Arg NC_000006.12:63806353:G:C p.(Pro2416Arg) NC_000006.12:63806353:G:C p.(Pro2416Arg) NC_000006.12:63806353:G:C Identity +NM_000195.5:c.1973C>T NP_000186.2:p.Pro658Leu NC_000010.11:98417693:G:A p.(Pro658Leu) NC_000010.11:98417693:G:A p.(Pro658Leu) NC_000010.11:98417693:G:A Identity +NM_000203.5:c.349del NP_000194.2:p.Tyr117fs NC_000004.12:1000660:T: p.(Tyr117ThrfsTer16) NC_000004.12:1000660:T: p.(Tyr117ThrfsTer16) NC_000004.12:1000660:T: Analogous +NM_003801.4:c.43del NP_003792.1:p.Arg15fs NC_000008.11:144082770:CCC:CC p.(Arg15AlafsTer2) NC_000008.11:144082770:CCC:CC p.(Arg15AlafsTer2) NC_000008.11:144082772:C: Analogous +NM_000016.6:c.342_343dup NP_000007.1:p.Gly115fs NC_000001.11:75733582:TG:TGTG p.(Gly115ValfsTer36) NC_000001.11:75733582:TG:TGTG p.(Gly115ValfsTer36) ERR:SPDI Analogous +NM_000206.3:c.27_51del NP_000197.1:p.Ser10fs NC_000023.11:71111488:GGGCAGCTGCAGGAATAAGAGGGATG:G p.(Ser10CysfsTer6) NC_000023.11:71111488:GGGCAGCTGCAGGAATAAGAGGGATG:G p.(Ser10CysfsTer6) NC_000023.11:71111488:GGGCAGCTGCAGGAATAAGAGGGAT: Analogous +NM_001190458.2:c.2260G>T NP_001177387.1:p.Glu754Ter NC_000009.12:379793:G:T p.(Glu754Ter) NC_000009.12:379793:G:T p.(Glu754Ter) NC_000009.12:379793:G:T Identity +NM_000138.5:c.7954T>A NP_000129.3:p.Cys2652Ser NC_000015.10:48415632:A:T p.(Cys2652Ser) NC_000015.10:48415632:A:T p.(Cys2652Ser) NC_000015.10:48415632:A:T Identity +NM_001135659.3:c.2401dup NP_001129131.1:p.Arg801fs NC_000002.12:50531292:T:TT p.(Arg801LysfsTer5) NC_000002.12:50531292:T:TT p.(Arg801LysfsTer5) ERR:SPDI Analogous +NM_052813.5:c.1045C>T NP_434700.2:p.Gln349Ter NC_000009.12:136369781:G:A p.(Gln349Ter) NC_000009.12:136369781:G:A p.(Gln349Ter) NC_000009.12:136369781:G:A Identity +NM_000059.4:c.5043_5046del NP_000050.3:p.Ser1682fs NC_000013.11:32339395:GTGAGT:GT p.(Ser1682ArgfsTer23) NC_000013.11:32339395:GTGAGT:GT p.(Ser1682ArgfsTer23) NC_000013.11:32339397:GAGT: Analogous +NM_001165963.4:c.4473del NP_001159435.1:p.Lys1492fs NC_000002.12:165998040:C: p.(Lys1492SerfsTer9) NC_000002.12:165998040:C: p.(Lys1492SerfsTer9) NC_000002.12:165998040:C: Analogous +NM_020533.3:c.654C>A NP_065394.1:p.Tyr218Ter NC_000019.10:7527601:C:A p.(Tyr218Ter) NC_000019.10:7527601:C:A p.(Tyr218Ter) NC_000019.10:7527601:C:A Identity +NM_000350.3:c.3853_3854del NP_000341.2:p.Leu1285fs NC_000001.11:94036747:AGAG:AG p.(Leu1285ValfsTer136) NC_000001.11:94036747:AGAG:AG p.(Leu1285ValfsTer136) NC_000001.11:94036747:AG: Analogous +NM_000138.5:c.3902del NP_000129.3:p.Gly1301fs NC_000015.10:48481716:CC:C p.(Gly1301AlafsTer112) NC_000015.10:48481716:CC:C p.(Gly1301AlafsTer112) NC_000015.10:48481716:C: Analogous +NM_000543.5:c.477_483dup NP_000534.3:p.Leu162fs NC_000011.10:6391535:GGCCTGTGGCCTG:GGCCTGTGGCCTGTGGCCTG p.(Leu162TrpfsTer33) NC_000011.10:6391535:GGCCTGTGGCCTG:GGCCTGTGGCCTGTGGCCTG p.(Leu162TrpfsTer33) ERR:SPDI Analogous +NM_000302.4:c.1170_1192del NP_000293.2:p.Asn391fs NC_000001.11:11963601:CCCAACAGCCTGCGGCTGCTGATCC:CC p.(Asn391ThrfsTer67) NC_000001.11:11963601:CCCAACAGCCTGCGGCTGCTGATCC:CC p.(Asn391ThrfsTer67) NC_000001.11:11963603:CAACAGCCTGCGGCTGCTGATCC: Analogous +NM_001122769.3:c.953dup NP_001116241.1:p.Asn318fs NC_000006.12:79492552:TTTTTT:TTTTTTT p.(Asn318LysfsTer7) NC_000006.12:79492552:TTTTTT:TTTTTTT p.(Asn318LysfsTer7) ERR:SPDI Analogous +NM_001306210.2:c.528dup NP_001293139.1:p.Glu177fs NC_000009.12:99132680:A:AA p.(Glu177ArgfsTer11) NC_000009.12:99132680:A:AA p.(Glu177ArgfsTer11) ERR:SPDI Analogous +NM_001123226.2:c.429_444del NP_001116698.1:p.Asn144fs NC_000006.12:73466496:CTTGAATACACCACTGCTT:CTT p.(Asn144LeufsTer7) NC_000006.12:73466496:CTTGAATACACCACTGCTT:CTT p.(Asn144LeufsTer7) NC_000006.12:73466499:GAATACACCACTGCTT: Analogous +NM_001075098.4:c.268G>T NP_001068566.1:p.Glu90Ter NC_000006.12:39925827:C:A p.(Glu90Ter) NC_000006.12:39925827:C:A p.(Glu90Ter) NC_000006.12:39925827:C:A Identity +NM_025114.4:c.1405A>T NP_079390.3:p.Lys469Ter NC_000012.12:88120230:T:A p.(Lys469Ter) NC_000012.12:88120230:T:A p.(Lys469Ter) NC_000012.12:88120230:T:A Identity +NM_000441.2:c.704A>G NP_000432.1:p.Gln235Arg NC_000007.14:107675047:A:G p.(Gln235Arg) NC_000007.14:107675047:A:G p.(Gln235Arg) NC_000007.14:107675047:A:G Identity +NM_000264.5:c.3333del NP_000255.2:p.Asn1112fs NC_000009.12:95453593:C: p.(Asn1112ThrfsTer27) NC_000009.12:95453593:C: p.(Asn1112ThrfsTer27) NC_000009.12:95453593:C: Analogous +NM_000170.3:c.2019T>A NP_000161.2:p.Tyr673Ter NC_000009.12:6558591:A:T p.(Tyr673Ter) NC_000009.12:6558591:A:T p.(Tyr673Ter) NC_000009.12:6558591:A:T Identity +NM_000541.5:c.74C>A NP_000532.2:p.Ser25Ter NC_000002.12:233309262:C:A p.(Ser25Ter) NC_000002.12:233309262:C:A p.(Ser25Ter) NC_000002.12:233309262:C:A Identity +NM_001127198.5:c.1146dup NP_001120670.1:p.Val383fs NC_000017.11:78122685:GG:GGG p.(Val383ArgfsTer118) NC_000017.11:78122685:GG:GGG p.(Val383ArgfsTer118) ERR:SPDI Analogous +NM_001174146.2:c.207dup NP_001167617.1:p.Arg70fs NC_000009.12:126615449:G:GG p.(Arg70AlafsTer78) NC_000009.12:126615449:G:GG p.(Arg70AlafsTer78) ERR:SPDI Analogous +NM_001293273.2:c.284del NP_001280202.1:p.Gly95fs NC_000003.12:183071213:CC:C p.(Gly95GlufsTer4) NC_000003.12:183071213:CC:C p.(Gly95GlufsTer4) NC_000003.12:183071213:C: Analogous +NM_000143.4:c.29_30del NP_000134.2:p.Arg10fs NC_000001.11:241519692:GCGCGCG:GCGCG p.(Arg10LeufsTer45) NC_000001.11:241519692:GCGCGCG:GCGCG p.(Arg10LeufsTer45) NC_000001.11:241519692:GC: Analogous +NM_001007098.3:c.349C>T NP_001007099.1:p.Gln117Ter NC_000001.11:52961586:C:T p.(Gln117Ter) NC_000001.11:52961586:C:T p.(Gln117Ter) NC_000001.11:52961586:C:T Identity +NM_138694.4:c.507del NP_619639.3:p.Phe169fs NC_000006.12:52073482:AAAA:AAA p.(Phe169LeufsTer10) NC_000006.12:52073482:AAAA:AAA p.(Phe169LeufsTer10) NC_000006.12:52073482:A: Analogous +NM_000154.2:c.6del NP_000145.1:p.Ala3fs NC_000017.11:75765130:A: p.(Ala3LeufsTer2) NC_000017.11:75765130:A: p.(Ala3LeufsTer2) NC_000017.11:75765130:A: Analogous +NM_004447.6:c.409del NP_004438.3:p.Gln137fs NC_000012.12:15669493:GG:G p.(Gln137LysfsTer3) NC_000012.12:15669493:GG:G p.(Gln137LysfsTer3) NC_000012.12:15669493:G: Analogous +NM_001324192.1:c.770_771insCT NP_001311121.1:p.Tyr258fs NC_000020.11:3908067::CT p.(Tyr258PhefsTer14) NC_000020.11:3908066:C:CT p.(Tyr258PhefsTer14) NC_000020.11:3908067:CT:CT Analogous +NM_000411.8:c.1193del NP_000402.3:p.Pro398fs NC_000021.9:36897117:GG:G p.(Pro398LeufsTer16) NC_000021.9:36897117:GG:G p.(Pro398LeufsTer16) NC_000021.9:36897117:G: Analogous +NM_000092.5:c.6G>A NP_000083.3:p.Trp2Ter NC_000002.12:227147477:C:T p.(Trp2Ter) NC_000002.12:227147477:C:T p.(Trp2Ter) NC_000002.12:227147477:C:T Identity +NM_000158.4:c.317del NP_000149.4:p.Gly106fs NC_000003.12:81670949:CC:C p.(Gly106ValfsTer37) NC_000003.12:81670949:CC:C p.(Gly106ValfsTer37) NC_000003.12:81670949:C: Analogous +NM_001164507.2:c.22175del NP_001157979.2:p.Lys7392fs NC_000002.12:151525259:TTTTT:TTTT p.(Lys7392ArgfsTer21) NC_000002.12:151525259:TTTTT:TTTT p.(Lys7392ArgfsTer21) NC_000002.12:151525259:T: Analogous +NM_001286075.2:c.513dup NP_001273004.1:p.Lys172Ter NC_000016.10:28887679:TTT:TTTT p.(Lys172Ter) NC_000016.10:28887679:TTT:TTTT p.(Lys172Ter) ERR:SPDI Identity +NM_000426.4:c.6115dup NP_000417.3:p.Asp2039fs NC_000006.12:129440843:GG:GGG p.(Asp2039GlyfsTer11) NC_000006.12:129440843:GG:GGG p.(Asp2039GlyfsTer11) ERR:SPDI Analogous +NM_001199981.2:c.565dup NP_001186910.1:p.Ile189fs NC_000002.12:206146966:T:TT p.(Ile189AsnfsTer10) NC_000002.12:206146966:T:TT p.(Ile189AsnfsTer10) ERR:SPDI Analogous +NM_000231.3:c.559del NP_000222.2:p.Asp187fs NC_000013.11:23295467:G: p.(Asp187ThrfsTer8) NC_000013.11:23295467:G: p.(Asp187ThrfsTer8) NC_000013.11:23295467:G: Analogous +NM_000059.4:c.1526del NP_000050.3:p.Arg509fs NC_000013.11:32333003:G: p.(Arg509LysfsTer16) NC_000013.11:32333003:G: p.(Arg509LysfsTer16) NC_000013.11:32333003:G: Analogous +NM_001128855.3:c.925dup NP_001122327.1:p.Glu309fs NC_000019.10:17339547:GGG:GGGG p.(Glu309GlyfsTer35) NC_000019.10:17339547:GGG:GGGG p.(Glu309GlyfsTer35) ERR:SPDI Analogous +NM_032119.4:c.3727dup NP_115495.3:p.Ile1243fs NC_000005.10:90653300:A:AA p.(Ile1243AsnfsTer18) NC_000005.10:90653300:A:AA p.(Ile1243AsnfsTer18) ERR:SPDI Analogous +NM_001113378.2:c.2029del NP_001106849.1:p.Trp677fs NC_000015.10:89292723:T: p.(Trp677GlyfsTer26) NC_000015.10:89292723:T: p.(Trp677GlyfsTer26) NC_000015.10:89292723:T: Analogous +NM_001145472.3:c.142del NP_001138944.1:p.Asp48fs NC_000018.10:46546933:C: p.(Asp48ThrfsTer21) NC_000018.10:46546933:C: p.(Asp48ThrfsTer21) NC_000018.10:46546933:C: Analogous +NM_000138.5:c.8103_8104insT NP_000129.3:p.Ser2702Ter NC_000015.10:48412691::A p.(Ser2702Ter) NC_000015.10:48412690:T:A p.(Ser2702Ter) NC_000015.10:48412691:TG:A Identity +NM_001378454.1:c.6918del NP_001365383.1:p.Ser2307fs NC_000002.12:73453442:CCC:CC p.(Ser2307LeufsTer36) NC_000002.12:73453442:CCC:CC p.(Ser2307LeufsTer36) NC_000002.12:73453444:C: Analogous +NM_000384.3:c.7966_7969del NP_000375.3:p.Phe2656fs NC_000002.12:21008898:GGAAGG:GG p.(Phe2656ThrfsTer10) NC_000002.12:21008898:GGAAGG:GG p.(Phe2656ThrfsTer10) NC_000002.12:21008898:GGAA: Analogous +NM_001142800.2:c.7326T>G NP_001136272.1:p.Tyr2442Ter NC_000006.12:63806274:A:C p.(Tyr2442Ter) NC_000006.12:63806274:A:C p.(Tyr2442Ter) NC_000006.12:63806274:A:C Identity +NM_001556.3:c.25del NP_001547.1:p.Thr9fs NC_000008.11:42272123:AA:A p.(Thr9ArgfsTer9) NC_000008.11:42272123:AA:A p.(Thr9ArgfsTer9) NC_000008.11:42272124:A: Analogous +NM_017890.5:c.11122del NP_060360.3:p.Thr3708fs NC_000008.11:99861777:A: p.(Thr3708ProfsTer62) NC_000008.11:99861777:A: p.(Thr3708ProfsTer62) NC_000008.11:99861777:A: Analogous +NM_001171.6:c.2781C>A NP_001162.5:p.Tyr927Ter NC_000016.10:16173289:G:T p.(Tyr927Ter) NC_000016.10:16173289:G:T p.(Tyr927Ter) NC_000016.10:16173289:G:T Identity +NM_000277.3:c.308G>A NP_000268.1:p.Gly103Asp NC_000012.12:102894778:C:T p.(Gly103Asp) NC_000012.12:102894778:C:T p.(Gly103Asp) NC_000012.12:102894778:C:T Identity +NM_001130066.2:c.2408C>G NP_001123538.1:p.Ser803Ter NC_000006.12:33443001:C:G p.(Ser803Ter) NC_000006.12:33443001:C:G p.(Ser803Ter) NC_000006.12:33443001:C:G Identity +NM_001384732.1:c.3604C>T NP_001371661.1:p.Gln1202Ter NC_000005.10:37198769:G:A p.(Gln1202Ter) NC_000005.10:37198769:G:A p.(Gln1202Ter) NC_000005.10:37198769:G:A Identity +NM_001105243.2:c.2417del NP_001098713.1:p.Phe806fs NC_000023.11:100402581:AAA:AA p.(Phe806SerfsTer11) NC_000023.11:100402581:AAA:AA p.(Phe806SerfsTer11) NC_000023.11:100402581:A: Analogous +NM_001378454.1:c.3649A>T NP_001365383.1:p.Lys1217Ter NC_000002.12:73450175:A:T p.(Lys1217Ter) NC_000002.12:73450175:A:T p.(Lys1217Ter) NC_000002.12:73450175:A:T Identity +NM_004260.4:c.2077C>T NP_004251.4:p.Gln693Ter NC_000008.11:144513693:G:A p.(Gln693Ter) NC_000008.11:144513693:G:A p.(Gln693Ter) NC_000008.11:144513693:G:A Identity +NM_003482.4:c.9824dup NP_003473.3:p.Gln3276fs NC_000012.12:49037531:T:TT p.(Gln3276AlafsTer25) NC_000012.12:49037531:T:TT p.(Gln3276AlafsTer25) ERR:SPDI Analogous +NM_001271.4:c.5100T>G NP_001262.3:p.Tyr1700Ter NC_000015.10:93020204:T:G p.(Tyr1700Ter) NC_000015.10:93020204:T:G p.(Tyr1700Ter) NC_000015.10:93020204:T:G Identity +NM_017802.4:c.2374C>T NP_060272.3:p.Arg792Ter NC_000007.14:780086:C:T p.(Arg792Ter) NC_000007.14:780086:C:T p.(Arg792Ter) NC_000007.14:780086:C:T Identity +NM_007123.6:c.815del NP_009054.6:p.Asp272fs NC_000001.11:216327623:T: p.(Asp272ValfsTer64) NC_000001.11:216327623:T: p.(Asp272ValfsTer64) NC_000001.11:216327623:T: Analogous +NM_000531.6:c.395C>A NP_000522.3:p.Ser132Tyr NC_000023.11:38401282:C:A p.(Ser132Tyr) NC_000023.11:38401282:C:A p.(Ser132Tyr) NC_000023.11:38401282:C:A Identity +NM_000527.5:c.2485C>T NP_000518.1:p.Gln829Ter NC_000019.10:11129607:C:T p.(Gln829Ter) NC_000019.10:11129607:C:T p.(Gln829Ter) NC_000019.10:11129607:C:T Identity +NM_001305942.2:c.19_20del NP_001292871.2:p.Pro7fs NC_000009.12:128322875:CCC:C p.(Pro7CysfsTer23) NC_000009.12:128322875:CCC:C p.(Pro7CysfsTer23) NC_000009.12:128322876:CC: Analogous +NM_001024858.4:c.4873C>T NP_001020029.1:p.Arg1625Ter NC_000014.9:64774496:G:A p.(Arg1625Ter) NC_000014.9:64774496:G:A p.(Arg1625Ter) NC_000014.9:64774496:G:A Identity +NM_000138.5:c.8499del NP_000129.3:p.Ser2833fs NC_000015.10:48411106:A: p.(Ser2833ArgfsTer13) NC_000015.10:48411106:A: p.(Ser2833ArgfsTer13) NC_000015.10:48411106:A: Analogous +NM_000350.3:c.470T>A NP_000341.2:p.Leu157Ter NC_000001.11:94103114:A:T p.(Leu157Ter) NC_000001.11:94103114:A:T p.(Leu157Ter) NC_000001.11:94103114:A:T Identity +NM_006623.4:c.271_274del NP_006614.2:p.Lys91fs NC_000001.11:119721297:AAGGAAGG:AAGG p.(Lys91AlafsTer5) NC_000001.11:119721297:AAGGAAGG:AAGG p.(Lys91AlafsTer5) NC_000001.11:119721301:AAGG: Analogous +NM_000098.3:c.834dup NP_000089.1:p.Asp279fs NC_000001.11:53210507:A:AA p.(Asp279ArgfsTer16) NC_000001.11:53210507:A:AA p.(Asp279ArgfsTer16) ERR:SPDI Analogous +NM_024675.4:c.1179dup NP_078951.2:p.His394fs NC_000016.10:23635366:TTTTT:TTTTTT p.(His394ThrfsTer7) NC_000016.10:23635366:TTTTT:TTTTTT p.(His394ThrfsTer7) ERR:SPDI Analogous +NM_000051.4:c.2994dup NP_000042.3:p.Lys999fs NC_000011.10:108271322:G:GG p.(Lys999GlufsTer11) NC_000011.10:108271322:G:GG p.(Lys999GlufsTer11) ERR:SPDI Analogous +NM_000548.5:c.2699G>A NP_000539.2:p.Cys900Tyr NC_000016.10:2076126:G:A p.(Cys900Tyr) NC_000016.10:2076126:G:A p.(Cys900Tyr) NC_000016.10:2076126:G:A Identity +NM_001197104.2:c.1975G>T NP_001184033.1:p.Glu659Ter NC_000011.10:118473133:G:T p.(Glu659Ter) NC_000011.10:118473133:G:T p.(Glu659Ter) NC_000011.10:118473133:G:T Identity +NM_001130144.3:c.3213_3214del NP_001123616.1:p.Gln1072fs NC_000011.10:65540274:GCGCG:GCG p.(Gln1072AlafsTer139) NC_000011.10:65540274:GCGCG:GCG p.(Gln1072AlafsTer139) NC_000011.10:65540274:GC: Analogous +NM_000495.5:c.1190G>T NP_000486.1:p.Gly397Val NC_000023.11:108591081:G:T p.(Gly397Val) NC_000023.11:108591081:G:T p.(Gly397Val) NC_000023.11:108591081:G:T Identity +NM_001144996.2:c.445C>T NP_001138468.1:p.Arg149Ter NC_000012.12:55701123:G:A p.(Arg149Ter) NC_000012.12:55701123:G:A p.(Arg149Ter) NC_000012.12:55701123:G:A Identity +NM_206933.4:c.8143dup NP_996816.3:p.Val2715fs NC_000001.11:215888505:CCC:CCCC p.(Val2715GlyfsTer42) NC_000001.11:215888505:CCC:CCCC p.(Val2715GlyfsTer42) ERR:SPDI Analogous +NM_000085.5:c.1051C>T NP_000076.2:p.Arg351Trp NC_000001.11:16050597:C:T p.(Arg351Trp) NC_000001.11:16050597:C:T p.(Arg351Trp) NC_000001.11:16050597:C:T Identity +NM_001164507.2:c.7219C>T NP_001157979.2:p.Gln2407Ter NC_000002.12:151650581:G:A p.(Gln2407Ter) NC_000002.12:151650581:G:A p.(Gln2407Ter) NC_000002.12:151650581:G:A Identity +NM_001289155.2:c.718C>T NP_001276084.1:p.Gln240Ter NC_000015.10:74896198:C:T p.(Gln240Ter) NC_000015.10:74896198:C:T p.(Gln240Ter) NC_000015.10:74896198:C:T Identity +NM_001044385.3:c.470_473dup NP_001037850.1:p.Thr159fs NC_000002.12:201632130:GTTTG:GTTTGTTTG p.(Thr159AsnfsTer16) NC_000002.12:201632130:GTTTG:GTTTGTTTG p.(Thr159AsnfsTer16) ERR:SPDI Analogous +NM_020778.5:c.762_763del NP_065829.4:p.Glu254fs NC_000015.10:84840036:GAGAGA:GAGA p.(Glu254AspfsTer2) NC_000015.10:84840036:GAGAGA:GAGA p.(Glu254AspfsTer2) NC_000015.10:84840040:GA: Analogous +NM_001142339.3:c.91C>T NP_001135811.1:p.Gln31Ter NC_000018.10:11752523:C:T p.(Gln31Ter) NC_000018.10:11752523:C:T p.(Gln31Ter) NC_000018.10:11752523:C:T Identity +NM_000349.3:c.422_423insTT NP_000340.2:p.Met141fs NC_000008.11:38146331:A:AAA p.(Met141IlefsTer46) NC_000008.11:38146330:C:AA p.(Met141IlefsTer46) NC_000008.11:38146331:CA:AA Analogous +NM_001042437.2:c.725del NP_001035902.1:p.Leu242fs NC_000002.12:85846431:AAAA:AAA p.(Leu242TyrfsTer14) NC_000002.12:85846431:AAAA:AAA p.(Leu242TyrfsTer14) NC_000002.12:85846431:A: Analogous +NM_017780.4:c.4542del NP_060250.2:p.Phe1514fs NC_000008.11:60841648:TTTT:TTT p.(Phe1514LeufsTer32) NC_000008.11:60841648:TTTT:TTT p.(Phe1514LeufsTer32) NC_000008.11:60841651:T: Analogous +NM_001005242.3:c.966_967del NP_001005242.2:p.Gln323fs NC_000012.12:32877912:GG: p.(Gln323GlyfsTer12) NC_000012.12:32877912:GG: p.(Gln323GlyfsTer12) NC_000012.12:32877912:GG: Analogous +NM_015384.5:c.3406G>T NP_056199.2:p.Glu1136Ter NC_000005.10:37000473:G:T p.(Glu1136Ter) NC_000005.10:37000473:G:T p.(Glu1136Ter) NC_000005.10:37000473:G:T Identity +NM_001354927.2:c.334G>A NP_001341856.1:p.Gly112Arg NC_000009.12:35065357:C:T p.(Gly112Arg) NC_000009.12:35065357:C:T p.(Gly112Arg) NC_000009.12:35065357:C:T Identity +NM_001354726.2:c.603del NP_001341655.1:p.Ser201fs NC_000003.12:14158700:G: p.(Ser201ArgfsTer132) NC_000003.12:14158700:G: p.(Ser201ArgfsTer132) NC_000003.12:14158700:G: Analogous +NM_001382235.1:c.2258del NP_001369164.1:p.Asp753fs NC_000020.11:63407058:T: p.(Asp753AlafsTer195) NC_000020.11:63407058:T: p.(Asp753AlafsTer195) NC_000020.11:63407058:T: Analogous +NM_152393.4:c.173del NP_689606.2:p.Phe58fs NC_000003.12:42685789:TT:T p.(Phe58SerfsTer6) NC_000003.12:42685789:TT:T p.(Phe58SerfsTer6) NC_000003.12:42685790:T: Analogous +NM_001737.5:c.1039_1042del NP_001728.1:p.Ser347fs NC_000005.10:39311205:TACT: p.(Ser347AlafsTer5) NC_000005.10:39311205:TACT: p.(Ser347AlafsTer5) NC_000005.10:39311205:TACT: Analogous +NM_000536.4:c.863del NP_000527.2:p.Asn288fs NC_000011.10:36593305:TT:T p.(Asn288ThrfsTer5) NC_000011.10:36593305:TT:T p.(Asn288ThrfsTer5) NC_000011.10:36593305:T: Analogous +NM_000478.6:c.980T>G NP_000469.3:p.Phe327Cys NC_000001.11:21573781:T:G p.(Phe327Cys) NC_000001.11:21573781:T:G p.(Phe327Cys) NC_000001.11:21573781:T:G Identity +NM_000238.4:c.1298_1304del NP_000229.1:p.Leu433fs NC_000007.14:150952677:TCCTTCA: p.(Leu433ArgfsTer86) NC_000007.14:150952677:TCCTTCA: p.(Leu433ArgfsTer86) NC_000007.14:150952677:TCCTTCA: Analogous +NM_032043.3:c.2002G>T NP_114432.2:p.Glu668Ter NC_000017.11:61776495:C:A p.(Glu668Ter) NC_000017.11:61776495:C:A p.(Glu668Ter) NC_000017.11:61776495:C:A Identity +NM_017890.5:c.8043G>A NP_060360.3:p.Trp2681Ter NC_000008.11:99809400:G:A p.(Trp2681Ter) NC_000008.11:99809400:G:A p.(Trp2681Ter) NC_000008.11:99809400:G:A Identity +NM_001142800.2:c.7194C>A NP_001136272.1:p.Cys2398Ter NC_000006.12:63864219:G:T p.(Cys2398Ter) NC_000006.12:63864219:G:T p.(Cys2398Ter) NC_000006.12:63864219:G:T Identity +NM_018129.4:c.346C>T NP_060599.1:p.Arg116Ter NC_000017.11:47944697:C:T p.(Arg116Ter) NC_000017.11:47944697:C:T p.(Arg116Ter) NC_000017.11:47944697:C:T Identity +NM_005732.4:c.2675_2676del NP_005723.2:p.Val892fs NC_000005.10:132604953:TGTG:TG p.(Val892GlyfsTer5) NC_000005.10:132604953:TGTG:TG p.(Val892GlyfsTer5) NC_000005.10:132604955:TG: Analogous +NM_001008844.3:c.3346del NP_001008844.1:p.Tyr1116fs NC_000006.12:7579534:TT:T p.(Tyr1116MetfsTer43) NC_000006.12:7579534:TT:T p.(Tyr1116MetfsTer43) NC_000006.12:7579535:T: Analogous +NM_017890.5:c.4792A>T NP_060360.3:p.Arg1598Ter NC_000008.11:99520981:A:T p.(Arg1598Ter) NC_000008.11:99520981:A:T p.(Arg1598Ter) NC_000008.11:99520981:A:T Identity +NM_012452.3:c.298dup NP_036584.1:p.Cys100fs NC_000017.11:16948884:A:AA p.(Cys100LeufsTer6) NC_000017.11:16948884:A:AA p.(Cys100LeufsTer6) ERR:SPDI Analogous +NM_017890.5:c.8021T>A NP_060360.3:p.Leu2674Ter NC_000008.11:99809378:T:A p.(Leu2674Ter) NC_000008.11:99809378:T:A p.(Leu2674Ter) NC_000008.11:99809378:T:A Identity +NM_004329.3:c.924del NP_004320.2:p.Thr309fs NC_000010.11:86919225:TT:T p.(Thr309LeufsTer13) NC_000010.11:86919225:TT:T p.(Thr309LeufsTer13) NC_000010.11:86919226:T: Analogous +NM_000162.5:c.728T>C NP_000153.1:p.Leu243Pro NC_000007.14:44147784:A:G p.(Leu243Pro) NC_000007.14:44147784:A:G p.(Leu243Pro) NC_000007.14:44147784:A:G Identity +NM_057176.3:c.220del NP_476517.1:p.Ser74fs NC_000001.11:55005063:T: p.(Ser74ProfsTer16) NC_000001.11:55005063:T: p.(Ser74ProfsTer16) NC_000001.11:55005063:T: Analogous +NM_001165963.4:c.4543G>C NP_001159435.1:p.Gly1515Arg NC_000002.12:165996050:C:G p.(Gly1515Arg) NC_000002.12:165996050:C:G p.(Gly1515Arg) NC_000002.12:165996050:C:G Identity +NM_001039141.3:c.1222C>T NP_001034230.1:p.Gln408Ter NC_000022.11:37723777:C:T p.(Gln408Ter) NC_000022.11:37723777:C:T p.(Gln408Ter) NC_000022.11:37723777:C:T Identity +NM_001374425.1:c.784C>T NP_001361354.1:p.Gln262Ter NC_000001.11:2406768:G:A p.(Gln262Ter) NC_000001.11:2406768:G:A p.(Gln262Ter) NC_000001.11:2406768:G:A Identity +NM_000335.5:c.3027C>A NP_000326.2:p.Tyr1009Ter NC_000003.12:38581131:G:T p.(Tyr1009Ter) NC_000003.12:38581131:G:T p.(Tyr1009Ter) NC_000003.12:38581131:G:T Identity +NM_000263.4:c.648del NP_000254.2:p.Ser217fs NC_000017.11:42538449:CCCCCC:CCCCC p.(Ser217ProfsTer22) NC_000017.11:42538449:CCCCCC:CCCCC p.(Ser217ProfsTer22) NC_000017.11:42538454:C: Analogous +NM_000091.5:c.1584del NP_000082.2:p.Gly529fs NC_000002.12:227270777:A: p.(Gly529ValfsTer48) NC_000002.12:227270777:A: p.(Gly529ValfsTer48) NC_000002.12:227270777:A: Analogous +NM_001318360.2:c.627G>A NP_001305289.1:p.Trp209Ter NC_000009.12:108912483:C:T p.(Trp209Ter) NC_000009.12:108912483:C:T p.(Trp209Ter) NC_000009.12:108912483:C:T Identity +NM_001008844.3:c.3439C>T NP_001008844.1:p.Gln1147Ter NC_000006.12:7579628:C:T p.(Gln1147Ter) NC_000006.12:7579628:C:T p.(Gln1147Ter) NC_000006.12:7579628:C:T Identity +NM_001278511.2:c.730G>T NP_001265440.1:p.Glu244Ter NC_000015.10:82680700:C:A p.(Glu244Ter) NC_000015.10:82680700:C:A p.(Glu244Ter) NC_000015.10:82680700:C:A Identity +NM_206933.4:c.9504C>A NP_996816.3:p.Cys3168Ter NC_000001.11:215817062:G:T p.(Cys3168Ter) NC_000001.11:215817062:G:T p.(Cys3168Ter) NC_000001.11:215817062:G:T Identity +NM_000138.5:c.7314del NP_000129.3:p.Thr2440fs NC_000015.10:48425754:A: p.(Thr2440LeufsTer4) NC_000015.10:48425754:A: p.(Thr2440LeufsTer4) NC_000015.10:48425754:A: Analogous +NM_004329.3:c.1461G>A NP_004320.2:p.Trp487Ter NC_000010.11:86923493:G:A p.(Trp487Ter) NC_000010.11:86923493:G:A p.(Trp487Ter) NC_000010.11:86923493:G:A Identity +NM_001805.4:c.12_18dup NP_001796.2:p.Tyr7fs NC_000014.9:23119073:GTAGGTC:GTAGGTCGTAGGTC p.(Tyr7AspfsTer6) NC_000014.9:23119073:GTAGGTC:GTAGGTCGTAGGTC p.(Tyr7AspfsTer6) ERR:SPDI Analogous +NM_000350.3:c.6190G>A NP_000341.2:p.Ala2064Thr NC_000001.11:94001949:C:T p.(Ala2064Thr) NC_000001.11:94001949:C:T p.(Ala2064Thr) NC_000001.11:94001949:C:T Identity +NM_001029883.3:c.3346_3349del NP_001025054.1:p.Ser1116fs NC_000002.12:29070912:CAGACA:CA p.(Ser1116GlyfsTer27) NC_000002.12:29070912:CAGACA:CA p.(Ser1116GlyfsTer27) NC_000002.12:29070912:CAGA: Analogous +NM_000179.3:c.3367del NP_000170.1:p.Glu1123fs NC_000002.12:47803612:GG:G p.(Glu1123LysfsTer22) NC_000002.12:47803612:GG:G p.(Glu1123LysfsTer22) NC_000002.12:47803613:G: Analogous +NM_001122633.3:c.4159A>T NP_001116105.2:p.Lys1387Ter NC_000002.12:210674958:A:T p.(Lys1387Ter) NC_000002.12:210674958:A:T p.(Lys1387Ter) NC_000002.12:210674958:A:T Identity +NM_001127897.4:c.1421dup NP_001121369.1:p.Asn474fs NC_000016.10:53657612:TTTTTTT:TTTTTTTT p.(Asn474LysfsTer12) NC_000016.10:53657612:TTTTTTT:TTTTTTTT p.(Asn474LysfsTer12) ERR:SPDI Analogous +NM_001385.3:c.1469dup NP_001376.1:p.Ala491fs NC_000008.11:104381288:C:CC p.(Ala491CysfsTer4) NC_000008.11:104381288:C:CC p.(Ala491CysfsTer4) ERR:SPDI Analogous +NM_000445.5:c.9103C>T NP_000436.2:p.Arg3035Ter NC_000008.11:143920798:G:A p.(Arg3035Ter) NC_000008.11:143920798:G:A p.(Arg3035Ter) NC_000008.11:143920798:G:A Identity +NM_000094.4:c.4172del NP_000085.1:p.Pro1391fs NC_000003.12:48584322:GGGGGG:GGGGG p.(Pro1391GlnfsTer8) NC_000003.12:48584322:GGGGGG:GGGGG p.(Pro1391GlnfsTer8) NC_000003.12:48584322:G: Analogous +NM_001353229.2:c.1319del NP_001340158.1:p.Pro440fs NC_000017.11:17216414:GGG:GG p.(Pro440ArgfsTer46) NC_000017.11:17216414:GGG:GG p.(Pro440ArgfsTer46) NC_000017.11:17216414:G: Analogous +NM_001199771.3:c.284G>A NP_001186700.1:p.Trp95Ter NC_000012.12:55721467:G:A p.(Trp95Ter) NC_000012.12:55721467:G:A p.(Trp95Ter) NC_000012.12:55721467:G:A Identity +NM_000155.4:c.558C>G NP_000146.2:p.His186Gln NC_000009.12:34648164:C:G p.(His186Gln) NC_000009.12:34648164:C:G p.(His186Gln) NC_000009.12:34648164:C:G Identity +NM_001277115.2:c.5845del NP_001264044.1:p.Arg1949fs NC_000007.14:21687446:CC:C p.(Arg1949GlufsTer14) NC_000007.14:21687446:CC:C p.(Arg1949GlufsTer14) NC_000007.14:21687447:C: Analogous +NM_001105243.2:c.300_301del NP_001098713.1:p.Ile101fs NC_000023.11:100408296:TG: p.(Ile101LeufsTer124) NC_000023.11:100408296:TG: p.(Ile101LeufsTer124) NC_000023.11:100408296:TG: Analogous +NM_017617.5:c.763_773del NP_060087.3:p.Glu255fs NC_000009.12:136519534:ATATTTTCCTCA:A p.(Glu255ArgfsTer72) NC_000009.12:136519534:ATATTTTCCTCA:A p.(Glu255ArgfsTer72) NC_000009.12:136519534:ATATTTTCCTC: Analogous +NM_001174146.2:c.484C>T NP_001167617.1:p.Gln162Ter NC_000009.12:126690992:C:T p.(Gln162Ter) NC_000009.12:126690992:C:T p.(Gln162Ter) NC_000009.12:126690992:C:T Identity +NM_000062.3:c.1174C>T NP_000053.2:p.Gln392Ter NC_000011.10:57611860:C:T p.(Gln392Ter) NC_000011.10:57611860:C:T p.(Gln392Ter) NC_000011.10:57611860:C:T Identity +NM_001195263.2:c.1222del NP_001182192.1:p.Asp409fs NC_000010.11:101018923:GG:G p.(Asp409ThrfsTer30) NC_000010.11:101018923:GG:G p.(Asp409ThrfsTer30) NC_000010.11:101018923:G: Analogous +NM_001256317.3:c.97del NP_001243246.1:p.Ala33fs NC_000021.9:42390034:C: p.(Ala33GlnfsTer14) NC_000021.9:42390034:C: p.(Ala33GlnfsTer14) NC_000021.9:42390034:C: Analogous +NM_000314.8:c.270del NP_000305.3:p.Phe90fs NC_000010.11:87933025:TTTT:TTT p.(Phe90LeufsTer9) NC_000010.11:87933025:TTTT:TTT p.(Phe90LeufsTer9) NC_000010.11:87933028:T: Analogous +NM_000038.6:c.5963_5964del NP_000029.2:p.Lys1988fs NC_000005.10:112841555:AAA:A p.(Lys1988ArgfsTer3) NC_000005.10:112841555:AAA:A p.(Lys1988ArgfsTer3) NC_000005.10:112841556:AA: Analogous +NM_007348.4:c.7G>T NP_031374.2:p.Glu3Ter NC_000001.11:161766366:G:T p.(Glu3Ter) NC_000001.11:161766366:G:T p.(Glu3Ter) NC_000001.11:161766366:G:T Identity +NM_001164507.2:c.23134_23144del NP_001157979.2:p.Tyr7712fs NC_000002.12:151513676:TCTCGCTTATAT:T p.(Tyr7712ProfsTer16) NC_000002.12:151513676:TCTCGCTTATAT:T p.(Tyr7712ProfsTer16) NC_000002.12:151513676:TCTCGCTTATA: Analogous +NM_001271933.2:c.3720_3721del NP_001258862.1:p.Ser1241fs NC_000011.10:117408987:TTTTT:TTT p.(Ser1241ProfsTer19) NC_000011.10:117408987:TTTTT:TTT p.(Ser1241ProfsTer19) NC_000011.10:117408990:TT: Analogous +NM_001159699.2:c.441del NP_001153171.1:p.Cys148fs NC_000023.11:136207852:C: p.(Cys148AlafsTer20) NC_000023.11:136207852:C: p.(Cys148AlafsTer20) NC_000023.11:136207852:C: Analogous +NM_000061.3:c.1535T>C NP_000052.1:p.Leu512Pro NC_000023.11:101356082:A:G p.(Leu512Pro) NC_000023.11:101356082:A:G p.(Leu512Pro) NC_000023.11:101356082:A:G Identity +NM_000346.4:c.255_256del NP_000337.1:p.Asp85fs NC_000017.11:72121645:CT: p.(Asp85GlufsTer166) NC_000017.11:72121645:CT: p.(Asp85GlufsTer166) NC_000017.11:72121645:CT: Analogous +NM_001844.5:c.1781G>A NP_001835.3:p.Gly594Glu NC_000012.12:47985046:C:T p.(Gly594Glu) NC_000012.12:47985046:C:T p.(Gly594Glu) NC_000012.12:47985046:C:T Identity +NM_000528.4:c.9del NP_000519.2:p.Tyr4fs NC_000019.10:12666692:GG:G p.(Tyr4ThrfsTer60) NC_000019.10:12666692:GG:G p.(Tyr4ThrfsTer60) NC_000019.10:12666692:G: Analogous +NM_001172631.3:c.728G>A NP_001166102.1:p.Trp243Ter NC_000014.9:102425067:G:A p.(Trp243Ter) NC_000014.9:102425067:G:A p.(Trp243Ter) NC_000014.9:102425067:G:A Identity +NM_003742.4:c.3174del NP_003733.2:p.Gln1058fs NC_000002.12:168932415:TT:T p.(Gln1058HisfsTer39) NC_000002.12:168932415:TT:T p.(Gln1058HisfsTer39) NC_000002.12:168932415:T: Analogous +NM_000263.4:c.607C>T NP_000254.2:p.Arg203Ter NC_000017.11:42538413:C:T p.(Arg203Ter) NC_000017.11:42538413:C:T p.(Arg203Ter) NC_000017.11:42538413:C:T Identity +NM_152424.4:c.1180G>T NP_689637.3:p.Glu394Ter NC_000023.11:64192106:C:A p.(Glu394Ter) NC_000023.11:64192106:C:A p.(Glu394Ter) NC_000023.11:64192106:C:A Identity +NM_000138.5:c.3724T>C NP_000129.3:p.Cys1242Arg NC_000015.10:48483931:A:G p.(Cys1242Arg) NC_000015.10:48483931:A:G p.(Cys1242Arg) NC_000015.10:48483931:A:G Identity +NM_001042494.2:c.373C>T NP_001035959.1:p.Gln125Ter NC_000015.10:34257781:G:A p.(Gln125Ter) NC_000015.10:34257781:G:A p.(Gln125Ter) NC_000015.10:34257781:G:A Identity +NM_000027.4:c.519dup NP_000018.2:p.Asp174fs NC_000004.12:177437507:T:TT p.(Asp174ArgfsTer23) NC_000004.12:177437507:T:TT p.(Asp174ArgfsTer23) ERR:SPDI Analogous +NM_014249.4:c.639_640insT NP_055064.1:p.Pro214fs NC_000015.10:71812403::T p.(Pro214SerfsTer9) NC_000015.10:71812402:C:T p.(Pro214SerfsTer9) NC_000015.10:71812403:CC:T Analogous +NM_000035.4:c.427del NP_000026.2:p.Val143fs NC_000009.12:101427594:C: p.(Val143LeufsTer10) NC_000009.12:101427594:C: p.(Val143LeufsTer10) NC_000009.12:101427594:C: Analogous +NM_001286577.2:c.2070dup NP_001273506.1:p.Phe691fs NC_000011.10:74106385:T:TT p.(Phe691IlefsTer14) NC_000011.10:74106385:T:TT p.(Phe691IlefsTer14) ERR:SPDI Analogous +NM_138694.4:c.6392dup NP_619639.3:p.Val2132fs NC_000006.12:51911896:G:GG p.(Val2132CysfsTer16) NC_000006.12:51911896:G:GG p.(Val2132CysfsTer16) ERR:SPDI Analogous +NM_001261406.2:c.3016G>T NP_001248335.1:p.Glu1006Ter NC_000009.12:13175790:C:A p.(Glu1006Ter) NC_000009.12:13175790:C:A p.(Glu1006Ter) NC_000009.12:13175790:C:A Identity +NM_001171930.2:c.185del NP_001165401.1:p.Asn62fs NC_000010.11:71510119:AA:A p.(Asn62MetfsTer52) NC_000010.11:71510119:AA:A p.(Asn62MetfsTer52) NC_000010.11:71510120:A: Analogous +NM_000271.5:c.24dup NP_000262.2:p.Gly9fs NC_000018.10:23586319:AA:AAA p.(Gly9TrpfsTer49) NC_000018.10:23586319:AA:AAA p.(Gly9TrpfsTer49) ERR:SPDI Analogous +NM_000090.4:c.548G>T NP_000081.2:p.Gly183Val NC_000002.12:188988099:G:T p.(Gly183Val) NC_000002.12:188988099:G:T p.(Gly183Val) NC_000002.12:188988099:G:T Identity +NM_022124.6:c.9393del NP_071407.4:p.Trp3132fs NC_000010.11:71812491:G: p.(Trp3132GlyfsTer25) NC_000010.11:71812491:G: p.(Trp3132GlyfsTer25) NC_000010.11:71812491:G: Analogous +NM_001018037.2:c.5253_5254insT NP_001018047.1:p.Ile1752fs NC_000009.12:77319628::T p.(Ile1752TyrfsTer2) NC_000009.12:77319627:A:T p.(Ile1752TyrfsTer2) NC_000009.12:77319628:AA:T Analogous +NM_005055.5:c.546_547dup NP_005046.2:p.Leu183fs NC_000011.10:47442798:GGG:GGGGG p.(Leu183ProfsTer21) NC_000011.10:47442798:GGG:GGGGG p.(Leu183ProfsTer21) ERR:SPDI Analogous +NM_001283009.2:c.2671_2686del NP_001269938.1:p.Ala891fs NC_000020.11:63692822:GCACAGACGGACAGGG: p.(Ala891ProfsTer8) NC_000020.11:63692822:GCACAGACGGACAGGG: p.(Ala891ProfsTer8) NC_000020.11:63692822:GCACAGACGGACAGGG: Analogous +NM_000318.3:c.455_456insG NP_000309.2:p.Ile152fs NC_000008.11:76983723::C p.(Ile152MetfsTer2) NC_000008.11:76983722:A:C p.(Ile152MetfsTer2) NC_000008.11:76983723:AA:C Analogous +NM_001385827.1:c.576T>G NP_001372756.1:p.Cys192Trp NC_000017.11:79097758:A:C p.(Cys192Trp) NC_000017.11:79097758:A:C p.(Cys192Trp) NC_000017.11:79097758:A:C Identity +NM_000920.4:c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG NP_000911.2:p.Ser356fs NC_000011.10:66866301:AGGC:CTGCCTGCCCTCAGCCACGTGGA p.(Ser356IlefsTer46) NC_000011.10:66866301:AGGC:CTGCCTGCCCTCAGCCACGTGGA p.(Ser356IlefsTer46) NC_000011.10:66866301:AGGC:CTGCCTGCCCTCAGCCACGTGGA Analogous +NM_000038.6:c.5803dup NP_000029.2:p.Gln1935fs NC_000005.10:112841393:CCCC:CCCCC p.(Gln1935ProfsTer14) NC_000005.10:112841393:CCCC:CCCCC p.(Gln1935ProfsTer14) ERR:SPDI Analogous +NM_024753.5:c.1942dup NP_079029.3:p.Ser648fs NC_000002.12:165915396:AAAA:AAAAA p.(Ser648PhefsTer5) NC_000002.12:165915396:AAAA:AAAAA p.(Ser648PhefsTer5) ERR:SPDI Analogous +NM_000059.4:c.8639_8643del NP_000050.3:p.Thr2880fs NC_000013.11:32376671:AACACAACA:AACA p.(Thr2880LysfsTer25) NC_000013.11:32376671:AACACAACA:AACA p.(Thr2880LysfsTer25) NC_000013.11:32376675:CAACA: Analogous +NM_000474.4:c.310G>T NP_000465.1:p.Glu104Ter NC_000007.14:19117011:C:A p.(Glu104Ter) NC_000007.14:19117011:C:A p.(Glu104Ter) NC_000007.14:19117011:C:A Identity +NM_000455.5:c.350del NP_000446.1:p.Leu117fs NC_000019.10:1218474:TT:T p.(Leu117TyrfsTer12) NC_000019.10:1218474:TT:T p.(Leu117TyrfsTer12) NC_000019.10:1218475:T: Analogous +NM_000016.6:c.1022_1029del NP_000007.1:p.Ala341fs NC_000001.11:75761195:AGCTTGGGAG:AG p.(Ala341GlyfsTer2) NC_000001.11:75761195:AGCTTGGGAG:AG p.(Ala341GlyfsTer2) NC_000001.11:75761197:CTTGGGAG: Analogous +NM_001306090.2:c.1652del NP_001293019.1:p.Pro551fs NC_000004.12:5783634:CCCCCC:CCCCC p.(Pro551ArgfsTer7) NC_000004.12:5783634:CCCCCC:CCCCC p.(Pro551ArgfsTer7) NC_000004.12:5783639:C: Analogous +NM_006767.4:c.628dup NP_006758.2:p.Arg210fs NC_000022.11:20989657:CC:CCC p.(Arg210ProfsTer50) NC_000022.11:20989657:CC:CCC p.(Arg210ProfsTer50) ERR:SPDI Analogous +NM_024753.5:c.3076C>T NP_079029.3:p.Gln1026Ter NC_000002.12:165890862:G:A p.(Gln1026Ter) NC_000002.12:165890862:G:A p.(Gln1026Ter) NC_000002.12:165890862:G:A Identity +NM_000339.3:c.2821G>T NP_000330.3:p.Glu941Ter NC_000016.10:56902445:G:T p.(Glu941Ter) NC_000016.10:56902445:G:T p.(Glu941Ter) NC_000016.10:56902445:G:T Identity +NM_000356.4:c.1768dup NP_000347.2:p.Arg590fs NC_000005.10:150376181:CCCCCC:CCCCCCC p.(Arg590ProfsTer31) NC_000005.10:150376181:CCCCCC:CCCCCCC p.(Arg590ProfsTer31) ERR:SPDI Analogous +NM_001114331.3:c.646G>A NP_001107803.1:p.Gly216Arg NC_000016.10:1457713:C:T p.(Gly216Arg) NC_000016.10:1457713:C:T p.(Gly216Arg) NC_000016.10:1457713:C:T Identity +NM_001369.3:c.5147G>T NP_001360.1:p.Arg1716Leu NC_000005.10:13844960:C:A p.(Arg1716Leu) NC_000005.10:13844960:C:A p.(Arg1716Leu) NC_000005.10:13844960:C:A Identity +NM_138694.4:c.2107G>A NP_619639.3:p.Asp703Asn NC_000006.12:52053108:C:T p.(Asp703Asn) NC_000006.12:52053108:C:T p.(Asp703Asn) NC_000006.12:52053108:C:T Identity +NM_000280.6:c.375del NP_000271.1:p.Val126fs NC_000011.10:31800838:T: p.(Val126PhefsTer21) NC_000011.10:31800838:T: p.(Val126PhefsTer21) NC_000011.10:31800838:T: Analogous +NM_000138.5:c.3977del NP_000129.3:p.Cys1326fs NC_000015.10:48474637:C: p.(Cys1326LeufsTer87) NC_000015.10:48474637:C: p.(Cys1326LeufsTer87) NC_000015.10:48474637:C: Analogous +NM_000089.4:c.632G>A NP_000080.2:p.Gly211Asp NC_000007.14:94407883:G:A p.(Gly211Asp) NC_000007.14:94407883:G:A p.(Gly211Asp) NC_000007.14:94407883:G:A Identity +NM_000359.3:c.2090T>G NP_000350.1:p.Leu697Ter NC_000014.9:24254286:A:C p.(Leu697Ter) NC_000014.9:24254286:A:C p.(Leu697Ter) NC_000014.9:24254286:A:C Identity +NM_001291415.2:c.3384del NP_001278344.1:p.Gly1129fs NC_000023.11:45082730:AAA:AA p.(Gly1129AspfsTer6) NC_000023.11:45082730:AAA:AA p.(Gly1129AspfsTer6) NC_000023.11:45082732:A: Analogous +NM_000089.4:c.2018G>A NP_000080.2:p.Gly673Asp NC_000007.14:94418544:G:A p.(Gly673Asp) NC_000007.14:94418544:G:A p.(Gly673Asp) NC_000007.14:94418544:G:A Identity +NM_001267039.4:c.1055_1058del NP_001253968.2:p.Leu352fs NC_000004.12:112647746:TCTT: p.(Leu352ArgfsTer24) NC_000004.12:112647746:TCTT: p.(Leu352ArgfsTer24) NC_000004.12:112647746:TCTT: Analogous +NM_002335.4:c.1375del NP_002326.2:p.Asp459fs NC_000011.10:68386673:GG:G p.(Asp459ThrfsTer11) NC_000011.10:68386673:GG:G p.(Asp459ThrfsTer11) NC_000011.10:68386674:G: Analogous +NM_001318381.2:c.2084dup NP_001305310.1:p.Lys696fs NC_000009.12:100292628:A:AA p.(Lys696GlufsTer18) NC_000009.12:100292628:A:AA p.(Lys696GlufsTer18) ERR:SPDI Analogous +NM_000133.4:c.499C>T NP_000124.1:p.Gln167Ter NC_000023.11:139548469:C:T p.(Gln167Ter) NC_000023.11:139548469:C:T p.(Gln167Ter) NC_000023.11:139548469:C:T Identity +NM_000059.4:c.3038C>G NP_000050.3:p.Ser1013Ter NC_000013.11:32337392:C:G p.(Ser1013Ter) NC_000013.11:32337392:C:G p.(Ser1013Ter) NC_000013.11:32337392:C:G Identity +NM_000543.5:c.39del NP_000534.3:p.Arg14fs NC_000011.10:6390633:CCCC:CCC p.(Arg14GlyfsTer63) NC_000011.10:6390633:CCCC:CCC p.(Arg14GlyfsTer63) NC_000011.10:6390636:C: Analogous +NM_001382.4:c.6G>A NP_001373.2:p.Trp2Ter NC_000011.10:119101649:C:T p.(Trp2Ter) NC_000011.10:119101649:C:T p.(Trp2Ter) NC_000011.10:119101649:C:T Identity +NM_000441.2:c.406_407dup NP_000432.1:p.Val138fs NC_000007.14:107672236:ATAT:ATATAT p.(Val138GlnfsTer8) NC_000007.14:107672236:ATAT:ATATAT p.(Val138GlnfsTer8) ERR:SPDI Analogous +NM_000059.4:c.5261A>T NP_000050.3:p.Asp1754Val NC_000013.11:32339615:A:T p.(Asp1754Val) NC_000013.11:32339615:A:T p.(Asp1754Val) NC_000013.11:32339615:A:T Identity +NM_001382361.1:c.445G>A NP_001369290.1:p.Glu149Lys NC_000011.10:64211101:G:A p.(Glu149Lys) NC_000011.10:64211101:G:A p.(Glu149Lys) NC_000011.10:64211101:G:A Identity +NM_001042780.3:c.367G>A NP_001036245.1:p.Glu123Lys NC_000011.10:1934355:G:A p.(Glu123Lys) NC_000011.10:1934355:G:A p.(Glu123Lys) NC_000011.10:1934355:G:A Identity +NM_006269.2:c.5605C>T NP_006260.1:p.His1869Tyr NC_000008.11:54629486:C:T p.(His1869Tyr) NC_000008.11:54629486:C:T p.(His1869Tyr) NC_000008.11:54629486:C:T Identity +NM_172364.5:c.1228G>A NP_758952.4:p.Asp410Asn NC_000012.12:1884811:C:T p.(Asp410Asn) NC_000012.12:1884811:C:T p.(Asp410Asn) NC_000012.12:1884811:C:T Identity +NM_001190983.2:c.79C>T NP_001177912.1:p.Arg27Cys NC_000016.10:19072046:C:T p.(Arg27Cys) NC_000016.10:19072046:C:T p.(Arg27Cys) NC_000016.10:19072046:C:T Identity +NM_000124.4:c.111del NP_000115.1:p.Asp38fs NC_000010.11:49532853:A: p.(Asp38MetfsTer46) NC_000010.11:49532853:A: p.(Asp38MetfsTer46) NC_000010.11:49532853:A: Analogous +NM_003172.4:c.74G>A NP_003163.1:p.Trp25Ter NC_000009.12:133356300:C:T p.(Trp25Ter) NC_000009.12:133356300:C:T p.(Trp25Ter) NC_000009.12:133356300:C:T Identity +NM_133259.4:c.2247dup NP_573566.2:p.Lys750fs NC_000002.12:43945380:G:GG p.(Lys750GlnfsTer20) NC_000002.12:43945380:G:GG p.(Lys750GlnfsTer20) ERR:SPDI Analogous +NM_053025.4:c.229G>C NP_444253.3:p.Gly77Arg NC_000003.12:123752474:C:G p.(Gly77Arg) NC_000003.12:123752474:C:G p.(Gly77Arg) NC_000003.12:123752474:C:G Identity +NM_016026.4:c.457C>G NP_057110.3:p.His153Asp NC_000014.9:67690418:G:C p.(His153Asp) NC_000014.9:67690418:G:C p.(His153Asp) NC_000014.9:67690418:G:C Identity +NM_005732.4:c.668T>G NP_005723.2:p.Ile223Ser NC_000005.10:132579977:T:G p.(Ile223Ser) NC_000005.10:132579977:T:G p.(Ile223Ser) NC_000005.10:132579977:T:G Identity +NM_001844.5:c.3715A>G NP_001835.3:p.Met1239Val NC_000012.12:47975487:T:C p.(Met1239Val) NC_000012.12:47975487:T:C p.(Met1239Val) NC_000012.12:47975487:T:C Identity +NM_001290309.3:c.2314C>G NP_001277238.1:p.Gln772Glu NC_000005.10:138933990:C:G p.(Gln772Glu) NC_000005.10:138933990:C:G p.(Gln772Glu) NC_000005.10:138933990:C:G Identity +NM_030928.4:c.392G>A NP_112190.2:p.Arg131Gln NC_000016.10:88804801:G:A p.(Arg131Gln) NC_000016.10:88804801:G:A p.(Arg131Gln) NC_000016.10:88804801:G:A Identity +NM_001033503.3:c.263A>G NP_001028675.1:p.Asn88Ser NC_000005.10:134609655:T:C p.(Asn88Ser) NC_000005.10:134609655:T:C p.(Asn88Ser) NC_000005.10:134609655:T:C Identity +NM_001195622.2:c.1232A>G NP_001182551.1:p.Asp411Gly NC_000009.12:32543097:T:C p.(Asp411Gly) NC_000009.12:32543097:T:C p.(Asp411Gly) NC_000009.12:32543097:T:C Identity +NM_001145265.2:c.617T>C NP_001138737.1:p.Val206Ala NC_000011.10:45810895:T:C p.(Val206Ala) NC_000011.10:45810895:T:C p.(Val206Ala) NC_000011.10:45810895:T:C Identity +NM_001195518.2:c.1035G>A NP_001182447.1:p.Met345Ile NC_000010.11:72423269:C:T p.(Met345Ile) NC_000010.11:72423269:C:T p.(Met345Ile) NC_000010.11:72423269:C:T Identity +NM_000382.3:c.805del NP_000373.1:p.Tyr269fs NC_000017.11:19661129:TTTT:TTT p.(Tyr269MetfsTer5) NC_000017.11:19661129:TTTT:TTT p.(Tyr269MetfsTer5) NC_000017.11:19661132:T: Analogous +NM_054027.6:c.674G>T NP_473368.1:p.Gly225Val NC_000005.10:14751081:C:A p.(Gly225Val) NC_000005.10:14751081:C:A p.(Gly225Val) NC_000005.10:14751081:C:A Identity +NM_000222.3:c.658A>G NP_000213.1:p.Ser220Gly NC_000004.12:54699667:A:G p.(Ser220Gly) NC_000004.12:54699667:A:G p.(Ser220Gly) NC_000004.12:54699667:A:G Identity +NM_014639.4:c.3548C>G NP_055454.1:p.Ser1183Cys NC_000005.10:95498384:G:C p.(Ser1183Cys) NC_000005.10:95498384:G:C p.(Ser1183Cys) NC_000005.10:95498384:G:C Identity +NM_001320923.2:c.700C>T NP_001307852.1:p.Leu234Phe NC_000001.11:64867155:G:A p.(Leu234Phe) NC_000001.11:64867155:G:A p.(Leu234Phe) NC_000001.11:64867155:G:A Identity +NM_001204830.2:c.752_801del NP_001191759.1:p.Thr251fs NC_000002.12:99162705:CAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAA:CAA p.(Thr251AsnfsTer13) NC_000002.12:99162705:CAACGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAA:CAA p.(Thr251AsnfsTer13) NC_000002.12:99162708:CGGATGAGACACTGTTTCCTGGAATAAATAGCAAAGCCAAAGAACTGCAA: Analogous +NM_012327.6:c.1076G>C NP_036459.1:p.Ser359Thr NC_000018.10:62139022:C:G p.(Ser359Thr) NC_000018.10:62139022:C:G p.(Ser359Thr) NC_000018.10:62139022:C:G Identity +NM_004373.4:c.206C>T NP_004364.2:p.Pro69Leu NC_000012.12:120438480:C:T p.(Pro69Leu) NC_000012.12:120438480:C:T p.(Pro69Leu) NC_000012.12:120438480:C:T Identity +NM_001318369.2:c.1165C>A NP_001305298.1:p.Gln389Lys NC_000011.10:20637300:C:A p.(Gln389Lys) NC_000011.10:20637300:C:A p.(Gln389Lys) NC_000011.10:20637300:C:A Identity +NM_001382361.1:c.765C>A NP_001369290.1:p.Ser255Arg NC_000011.10:64211725:C:A p.(Ser255Arg) NC_000011.10:64211725:C:A p.(Ser255Arg) NC_000011.10:64211725:C:A Identity +NM_022168.4:c.3025A>G NP_071451.2:p.Thr1009Ala NC_000002.12:162267252:T:C p.(Thr1009Ala) NC_000002.12:162267252:T:C p.(Thr1009Ala) NC_000002.12:162267252:T:C Identity +NM_001083962.2:c.1294G>C NP_001077431.1:p.Gly432Arg NC_000018.10:55254552:C:G p.(Gly432Arg) NC_000018.10:55254552:C:G p.(Gly432Arg) NC_000018.10:55254552:C:G Identity +NM_001385110.1:c.2266C>G NP_001372039.1:p.Leu756Val NC_000012.12:56343938:G:C p.(Leu756Val) NC_000012.12:56343938:G:C p.(Leu756Val) NC_000012.12:56343938:G:C Identity +NM_001369346.1:c.1727C>T NP_001356275.1:p.Ser576Leu NC_000002.12:25744435:G:A p.(Ser576Leu) NC_000002.12:25744435:G:A p.(Ser576Leu) NC_000002.12:25744435:G:A Identity +NM_001081.4:c.791G>C NP_001072.2:p.Arg264Thr NC_000010.11:17114118:C:G p.(Arg264Thr) NC_000010.11:17114118:C:G p.(Arg264Thr) NC_000010.11:17114118:C:G Identity +NM_001001557.4:c.413T>C NP_001001557.1:p.Leu138Pro NC_000008.11:96145517:A:G p.(Leu138Pro) NC_000008.11:96145517:A:G p.(Leu138Pro) NC_000008.11:96145517:A:G Identity +NM_152617.4:c.1429C>G NP_689830.2:p.Arg477Gly NC_000003.12:196472105:G:C p.(Arg477Gly) NC_000003.12:196472105:G:C p.(Arg477Gly) NC_000003.12:196472105:G:C Identity +NM_000065.5:c.2629A>G NP_000056.2:p.Thr877Ala NC_000005.10:41143000:T:C p.(Thr877Ala) NC_000005.10:41143000:T:C p.(Thr877Ala) NC_000005.10:41143000:T:C Identity +NM_000435.3:c.2962T>C NP_000426.2:p.Cys988Arg NC_000019.10:15180992:A:G p.(Cys988Arg) NC_000019.10:15180992:A:G p.(Cys988Arg) NC_000019.10:15180992:A:G Identity +NM_017890.5:c.11137A>T NP_060360.3:p.Thr3713Ser NC_000008.11:99861792:A:T p.(Thr3713Ser) NC_000008.11:99861792:A:T p.(Thr3713Ser) NC_000008.11:99861792:A:T Identity +NM_000546.6:c.665C>A NP_000537.3:p.Pro222Gln NC_000017.11:7674865:G:T p.(Pro222Gln) NC_000017.11:7674865:G:T p.(Pro222Gln) NC_000017.11:7674865:G:T Identity +NM_001193640.2:c.2603T>A NP_001180569.1:p.Phe868Tyr NC_000001.11:197434801:T:A p.(Phe868Tyr) NC_000001.11:197434801:T:A p.(Phe868Tyr) NC_000001.11:197434801:T:A Identity +NM_006269.2:c.2350A>C NP_006260.1:p.Lys784Gln NC_000008.11:54626231:A:C p.(Lys784Gln) NC_000008.11:54626231:A:C p.(Lys784Gln) NC_000008.11:54626231:A:C Identity +NM_001318502.2:c.511C>T NP_001305431.1:p.Leu171Phe NC_000009.12:136438908:G:A p.(Leu171Phe) NC_000009.12:136438908:G:A p.(Leu171Phe) NC_000009.12:136438908:G:A Identity +NM_014165.4:c.59G>A NP_054884.1:p.Arg20Gln NC_000006.12:96897742:C:T p.(Arg20Gln) NC_000006.12:96897742:C:T p.(Arg20Gln) NC_000006.12:96897742:C:T Identity +NM_000548.5:c.2453T>C NP_000539.2:p.Ile818Thr NC_000016.10:2074296:T:C p.(Ile818Thr) NC_000016.10:2074296:T:C p.(Ile818Thr) NC_000016.10:2074296:T:C Identity +NM_001113378.2:c.3971A>G NP_001106849.1:p.Lys1324Arg NC_000015.10:89316442:A:G p.(Lys1324Arg) NC_000015.10:89316442:A:G p.(Lys1324Arg) NC_000015.10:89316442:A:G Identity +NM_000199.5:c.962C>T NP_000190.1:p.Thr321Ile NC_000017.11:80210998:G:A p.(Thr321Ile) NC_000017.11:80210998:G:A p.(Thr321Ile) NC_000017.11:80210998:G:A Identity +NM_001098268.2:c.1514G>A NP_001091738.1:p.Arg505His NC_000013.11:108209754:C:T p.(Arg505His) NC_000013.11:108209754:C:T p.(Arg505His) NC_000013.11:108209754:C:T Identity +NM_144670.6:c.292_294del NP_653271.3:p.Val98del NC_000012.12:8823763:GGTG:G p.(Val98del) NC_000012.12:8823763:GGTG:G p.(Val98del) NC_000012.12:8823764:GTG: Identity +NM_001040142.2:c.1429G>A NP_001035232.1:p.Ala477Thr NC_000002.12:165315515:G:A p.(Ala477Thr) NC_000002.12:165315515:G:A p.(Ala477Thr) NC_000002.12:165315515:G:A Identity +NM_005732.4:c.1204G>A NP_005723.2:p.Glu402Lys NC_000005.10:132588838:G:A p.(Glu402Lys) NC_000005.10:132588838:G:A p.(Glu402Lys) NC_000005.10:132588838:G:A Identity +NM_002185.5:c.1355T>C NP_002176.2:p.Met452Thr NC_000005.10:35876460:T:C p.(Met452Thr) NC_000005.10:35876460:T:C p.(Met452Thr) NC_000005.10:35876460:T:C Identity +NM_020461.4:c.5252T>A NP_065194.3:p.Leu1751His NC_000022.11:50218033:A:T p.(Leu1751His) NC_000022.11:50218033:A:T p.(Leu1751His) NC_000022.11:50218033:A:T Identity +NM_001127487.2:c.7243T>G NP_001120959.1:p.Ser2415Ala NC_000007.14:128856607:T:G p.(Ser2415Ala) NC_000007.14:128856607:T:G p.(Ser2415Ala) NC_000007.14:128856607:T:G Identity +NM_001199777.2:c.128G>T NP_001186706.1:p.Arg43Ile NC_000012.12:89497188:C:A p.(Arg43Ile) NC_000012.12:89497188:C:A p.(Arg43Ile) NC_000012.12:89497188:C:A Identity +NM_006939.4:c.1245_1248del NP_008870.2:p.Ala416fs NC_000014.9:50160034:AGCCAG:AG p.(Ala416SerfsTer4) NC_000014.9:50160034:AGCCAG:AG p.(Ala416SerfsTer4) NC_000014.9:50160034:AGCC: Analogous +NM_001195263.2:c.790G>A NP_001182192.1:p.Val264Ile NC_000010.11:101021874:C:T p.(Val264Ile) NC_000010.11:101021874:C:T p.(Val264Ile) NC_000010.11:101021874:C:T Identity +NM_001271282.3:c.5424G>A NP_001258211.1:p.Met1808Ile NC_000014.9:95091305:C:T p.(Met1808Ile) NC_000014.9:95091305:C:T p.(Met1808Ile) NC_000014.9:95091305:C:T Identity +NM_001346897.2:c.88G>A NP_001333826.1:p.Val30Ile NC_000007.14:55019364:G:A p.(Val30Ile) NC_000007.14:55019364:G:A p.(Val30Ile) NC_000007.14:55019364:G:A Identity +NM_001144769.5:c.6469G>A NP_001138241.1:p.Ala2157Thr NC_000006.12:56592258:C:T p.(Ala2157Thr) NC_000006.12:56592258:C:T p.(Ala2157Thr) NC_000006.12:56592258:C:T Identity +NM_001199.4:c.1052G>A NP_001190.1:p.Arg351His NC_000008.11:22180457:G:A p.(Arg351His) NC_000008.11:22180457:G:A p.(Arg351His) NC_000008.11:22180457:G:A Identity +NM_000257.4:c.3187del NP_000248.2:p.Gln1063fs NC_000014.9:23422237:GGG:GG p.(Gln1063ArgfsTer18) NC_000014.9:23422237:GGG:GG p.(Gln1063ArgfsTer18) NC_000014.9:23422237:G: Analogous +NM_001244008.2:c.3605G>T NP_001230937.1:p.Arg1202Leu NC_000002.12:240742963:C:A p.(Arg1202Leu) NC_000002.12:240742963:C:A p.(Arg1202Leu) NC_000002.12:240742963:C:A Identity +NM_000260.4:c.3891C>G NP_000251.3:p.Phe1297Leu NC_000011.10:77190836:C:G p.(Phe1297Leu) NC_000011.10:77190836:C:G p.(Phe1297Leu) NC_000011.10:77190836:C:G Identity +NM_001321135.2:c.539G>A NP_001308064.1:p.Cys180Tyr NC_000015.10:77029550:G:A p.(Cys180Tyr) NC_000015.10:77029550:G:A p.(Cys180Tyr) NC_000015.10:77029550:G:A Identity +NM_015378.4:c.7888A>C NP_056193.2:p.Thr2630Pro NC_000001.11:12322718:A:C p.(Thr2630Pro) NC_000001.11:12322718:A:C p.(Thr2630Pro) NC_000001.11:12322718:A:C Identity +NM_001371986.1:c.5372G>A NP_001358915.1:p.Arg1791His NC_000002.12:209921527:G:A p.(Arg1791His) NC_000002.12:209921527:G:A p.(Arg1791His) NC_000002.12:209921527:G:A Identity +NM_000308.4:c.380A>T NP_000299.3:p.Glu127Val NC_000020.11:45892419:A:T p.(Glu127Val) NC_000020.11:45892419:A:T p.(Glu127Val) NC_000020.11:45892419:A:T Identity +NM_020964.3:c.4605G>C NP_066015.2:p.Gln1535His NC_000018.10:45901036:C:G p.(Gln1535His) NC_000018.10:45901036:C:G p.(Gln1535His) NC_000018.10:45901036:C:G Identity +NM_001304438.2:c.1819G>A NP_001291367.1:p.Glu607Lys NC_000017.11:34634928:G:A p.(Glu607Lys) NC_000017.11:34634928:G:A p.(Glu607Lys) NC_000017.11:34634928:G:A Identity +NM_025114.4:c.3278G>C NP_079390.3:p.Arg1093Pro NC_000012.12:88093800:C:G p.(Arg1093Pro) NC_000012.12:88093800:C:G p.(Arg1093Pro) NC_000012.12:88093800:C:G Identity +NM_000161.3:c.241T>C NP_000152.1:p.Ser81Pro NC_000014.9:54902422:A:G p.(Ser81Pro) NC_000014.9:54902422:A:G p.(Ser81Pro) NC_000014.9:54902422:A:G Identity +NM_001261406.2:c.2684A>T NP_001248335.1:p.Asp895Val NC_000009.12:13176382:T:A p.(Asp895Val) NC_000009.12:13176382:T:A p.(Asp895Val) NC_000009.12:13176382:T:A Identity +NM_001271933.2:c.100C>G NP_001258862.1:p.Arg34Gly NC_000011.10:117344182:C:G p.(Arg34Gly) NC_000011.10:117344182:C:G p.(Arg34Gly) NC_000011.10:117344182:C:G Identity +NM_000081.4:c.3997G>C NP_000072.2:p.Asp1333His NC_000001.11:235800328:C:G p.(Asp1333His) NC_000001.11:235800328:C:G p.(Asp1333His) NC_000001.11:235800328:C:G Identity +NM_001305275.2:c.2366G>A NP_001292204.1:p.Cys789Tyr NC_000001.11:1045271:G:A p.(Cys789Tyr) NC_000001.11:1045271:G:A p.(Cys789Tyr) NC_000001.11:1045271:G:A Identity +NM_001199138.2:c.487A>G NP_001186067.1:p.Ser163Gly NC_000002.12:32251376:T:C p.(Ser163Gly) NC_000002.12:32251376:T:C p.(Ser163Gly) NC_000002.12:32251376:T:C Identity +NM_001375808.2:c.2291T>G NP_001362737.1:p.Met764Arg NC_000018.10:2922082:A:C p.(Met764Arg) NC_000018.10:2922082:A:C p.(Met764Arg) NC_000018.10:2922082:A:C Identity +NM_004560.4:c.1799C>T NP_004551.2:p.Ala600Val NC_000009.12:91724694:G:A p.(Ala600Val) NC_000009.12:91724694:G:A p.(Ala600Val) NC_000009.12:91724694:G:A Identity +NM_003320.5:c.214G>C NP_003311.2:p.Asp72His NC_000011.10:8089619:G:C p.(Asp72His) NC_000011.10:8089619:G:C p.(Asp72His) NC_000011.10:8089619:G:C Identity +NM_004055.5:c.590T>C NP_004046.2:p.Ile197Thr NC_000011.10:77114324:T:C p.(Ile197Thr) NC_000011.10:77114324:T:C p.(Ile197Thr) NC_000011.10:77114324:T:C Identity +NM_001318245.2:c.3436G>A NP_001305174.1:p.Gly1146Ser NC_000022.11:25846163:G:A p.(Gly1146Ser) NC_000022.11:25846163:G:A p.(Gly1146Ser) NC_000022.11:25846163:G:A Identity +NM_001164665.2:c.1912A>G NP_001158137.1:p.Ile638Val NC_000007.14:138917713:T:C p.(Ile638Val) NC_000007.14:138917713:T:C p.(Ile638Val) NC_000007.14:138917713:T:C Identity +NM_001032221.6:c.856G>A NP_001027392.1:p.Asp286Asn NC_000009.12:127668140:G:A p.(Asp286Asn) NC_000009.12:127668140:G:A p.(Asp286Asn) NC_000009.12:127668140:G:A Identity +NM_001145468.4:c.1026G>A NP_001138940.4:p.Met342Ile NC_000022.11:24322005:G:A p.(Met342Ile) NC_000022.11:24322005:G:A p.(Met342Ile) NC_000022.11:24322005:G:A Identity +NM_001190458.2:c.710G>T NP_001177387.1:p.Cys237Phe NC_000009.12:328040:G:T p.(Cys237Phe) NC_000009.12:328040:G:T p.(Cys237Phe) NC_000009.12:328040:G:T Identity +NM_001171.6:c.1675G>A NP_001162.5:p.Glu559Lys NC_000016.10:16188934:C:T p.(Glu559Lys) NC_000016.10:16188934:C:T p.(Glu559Lys) NC_000016.10:16188934:C:T Identity +NM_007055.4:c.4141A>G NP_008986.2:p.Thr1381Ala NC_000010.11:77977509:T:C p.(Thr1381Ala) NC_000010.11:77977509:T:C p.(Thr1381Ala) NC_000010.11:77977509:T:C Identity +NM_003906.5:c.4615G>C NP_003897.2:p.Asp1539His NC_000021.9:46246338:C:G p.(Asp1539His) NC_000021.9:46246338:C:G p.(Asp1539His) NC_000021.9:46246338:C:G Identity +NM_001290307.3:c.1165C>A NP_001277236.1:p.His389Asn NC_000005.10:138887510:C:A p.(His389Asn) NC_000005.10:138887510:C:A p.(His389Asn) NC_000005.10:138887510:C:A Identity +NM_001136536.5:c.1073C>T NP_001130008.2:p.Ala358Val NC_000004.12:36308340:C:T p.(Ala358Val) NC_000004.12:36308340:C:T p.(Ala358Val) NC_000004.12:36308340:C:T Identity +NM_005236.3:c.794C>T NP_005227.1:p.Thr265Ile NC_000016.10:13930710:C:T p.(Thr265Ile) NC_000016.10:13930710:C:T p.(Thr265Ile) NC_000016.10:13930710:C:T Identity +NM_006231.4:c.5399T>C NP_006222.2:p.Val1800Ala NC_000012.12:132639277:A:G p.(Val1800Ala) NC_000012.12:132639277:A:G p.(Val1800Ala) NC_000012.12:132639277:A:G Identity +NM_004304.5:c.2078C>T NP_004295.2:p.Pro693Leu NC_000002.12:29251230:G:A p.(Pro693Leu) NC_000002.12:29251230:G:A p.(Pro693Leu) NC_000002.12:29251230:G:A Identity +NM_003000.3:c.205G>A NP_002991.2:p.Gly69Ser NC_000001.11:17033140:C:T p.(Gly69Ser) NC_000001.11:17033140:C:T p.(Gly69Ser) NC_000001.11:17033140:C:T Identity +NM_001379500.1:c.1126G>A NP_001366429.1:p.Gly376Ser NC_000021.9:45477869:G:A p.(Gly376Ser) NC_000021.9:45477869:G:A p.(Gly376Ser) NC_000021.9:45477869:G:A Identity +NM_001083961.2:c.3353C>G NP_001077430.1:p.Pro1118Arg NC_000019.10:36102964:C:G p.(Pro1118Arg) NC_000019.10:36102964:C:G p.(Pro1118Arg) NC_000019.10:36102964:C:G Identity +NM_001256789.3:c.2620A>T NP_001243718.1:p.Ser874Cys NC_000023.11:49219373:T:A p.(Ser874Cys) NC_000023.11:49219373:T:A p.(Ser874Cys) NC_000023.11:49219373:T:A Identity +NM_000028.3:c.2921T>C NP_000019.2:p.Leu974Pro NC_000001.11:99891327:T:C p.(Leu974Pro) NC_000001.11:99891327:T:C p.(Leu974Pro) NC_000001.11:99891327:T:C Identity +NM_001165928.4:c.587A>T NP_001159400.3:p.Asp196Val NC_000003.12:49531097:A:T p.(Asp196Val) NC_000003.12:49531097:A:T p.(Asp196Val) NC_000003.12:49531097:A:T Identity +NM_000548.5:c.3833T>C NP_000539.2:p.Leu1278Pro NC_000016.10:2082453:T:C p.(Leu1278Pro) NC_000016.10:2082453:T:C p.(Leu1278Pro) NC_000016.10:2082453:T:C Identity +NM_001315529.2:c.1184A>T NP_001302458.1:p.Glu395Val NC_000021.9:46353184:A:T p.(Glu395Val) NC_000021.9:46353184:A:T p.(Glu395Val) NC_000021.9:46353184:A:T Identity +NM_001277764.2:c.547C>T NP_001264693.1:p.Arg183Trp NC_000015.10:90231132:G:A p.(Arg183Trp) NC_000015.10:90231132:G:A p.(Arg183Trp) NC_000015.10:90231132:G:A Identity +NM_139057.4:c.173G>A NP_620688.2:p.Gly58Glu NC_000015.10:100341315:C:T p.(Gly58Glu) NC_000015.10:100341315:C:T p.(Gly58Glu) NC_000015.10:100341315:C:T Identity +NM_203288.2:c.58G>A NP_976033.1:p.Glu20Lys NC_000007.14:33109314:C:T p.(Glu20Lys) NC_000007.14:33109314:C:T p.(Glu20Lys) NC_000007.14:33109314:C:T Identity +NM_001042410.2:c.269A>G NP_001035869.1:p.His90Arg NC_000002.12:219232266:A:G p.(His90Arg) NC_000002.12:219232266:A:G p.(His90Arg) NC_000002.12:219232266:A:G Identity +NM_001130103.2:c.958C>T NP_001123575.1:p.Arg320Trp NC_000010.11:69917294:C:T p.(Arg320Trp) NC_000010.11:69917294:C:T p.(Arg320Trp) NC_000010.11:69917294:C:T Identity +NM_001354906.2:c.4856C>G NP_001341835.1:p.Ser1619Cys NC_000005.10:112841298:C:G p.(Ser1619Cys) NC_000005.10:112841298:C:G p.(Ser1619Cys) NC_000005.10:112841298:C:G Identity +NM_000341.4:c.544G>A NP_000332.2:p.Glu182Lys NC_000002.12:44280828:G:A p.(Glu182Lys) NC_000002.12:44280828:G:A p.(Glu182Lys) NC_000002.12:44280828:G:A Identity +NM_032119.4:c.12890A>G NP_115495.3:p.His4297Arg NC_000005.10:90778904:A:G p.(His4297Arg) NC_000005.10:90778904:A:G p.(His4297Arg) NC_000005.10:90778904:A:G Identity +NM_000319.5:c.1667T>C NP_000310.2:p.Ile556Thr NC_000012.12:7209812:T:C p.(Ile556Thr) NC_000012.12:7209812:T:C p.(Ile556Thr) NC_000012.12:7209812:T:C Identity +NM_001303496.3:c.833A>G NP_001290425.1:p.Asn278Ser NC_000007.14:93135138:T:C p.(Asn278Ser) NC_000007.14:93135138:T:C p.(Asn278Ser) NC_000007.14:93135138:T:C Identity +NM_001025107.3:c.1331G>A NP_001020278.1:p.Gly444Asp NC_000001.11:154596858:C:T p.(Gly444Asp) NC_000001.11:154596858:C:T p.(Gly444Asp) NC_000001.11:154596858:C:T Identity +NM_000051.4:c.3037G>T NP_000042.3:p.Asp1013Tyr NC_000011.10:108271365:G:T p.(Asp1013Tyr) NC_000011.10:108271365:G:T p.(Asp1013Tyr) NC_000011.10:108271365:G:T Identity +NM_000192.3:c.1343C>T NP_000183.2:p.Pro448Leu NC_000012.12:114355745:G:A p.(Pro448Leu) NC_000012.12:114355745:G:A p.(Pro448Leu) NC_000012.12:114355745:G:A Identity +NM_020461.4:c.4076A>G NP_065194.3:p.Asn1359Ser NC_000022.11:50220282:T:C p.(Asn1359Ser) NC_000022.11:50220282:T:C p.(Asn1359Ser) NC_000022.11:50220282:T:C Identity +NM_001282489.3:c.911T>G NP_001269418.1:p.Leu304Arg NC_000017.11:74919615:A:C p.(Leu304Arg) NC_000017.11:74919615:A:C p.(Leu304Arg) NC_000017.11:74919615:A:C Identity +NM_001407658.1:c.2906A>C NP_001394587.1:p.Lys969Thr NC_000017.11:43092546:T:G p.(Lys969Thr) NC_000017.11:43092546:T:G p.(Lys969Thr) NC_000017.11:43092546:T:G Identity +NM_001306129.2:c.746A>C NP_001293058.2:p.Lys249Thr NC_000002.12:215428277:T:G p.(Lys249Thr) NC_000002.12:215428277:T:G p.(Lys249Thr) NC_000002.12:215428277:T:G Identity +NM_206933.4:c.6266G>A NP_996816.3:p.Cys2089Tyr NC_000001.11:216046489:C:T p.(Cys2089Tyr) NC_000001.11:216046489:C:T p.(Cys2089Tyr) NC_000001.11:216046489:C:T Identity +NM_005188.4:c.8G>T NP_005179.2:p.Gly3Val NC_000011.10:119206424:G:T p.(Gly3Val) NC_000011.10:119206424:G:T p.(Gly3Val) NC_000011.10:119206424:G:T Identity +NM_000051.4:c.3667A>T NP_000042.3:p.Asn1223Tyr NC_000011.10:108282799:A:T p.(Asn1223Tyr) NC_000011.10:108282799:A:T p.(Asn1223Tyr) NC_000011.10:108282799:A:T Identity +NM_182493.3:c.1103C>A NP_872299.2:p.Ala368Asp NC_000016.10:46732566:G:T p.(Ala368Asp) NC_000016.10:46732566:G:T p.(Ala368Asp) NC_000016.10:46732566:G:T Identity +NM_001105206.3:c.4537G>A NP_001098676.2:p.Asp1513Asn NC_000006.12:112120410:C:T p.(Asp1513Asn) NC_000006.12:112120410:C:T p.(Asp1513Asn) NC_000006.12:112120410:C:T Identity +NM_001163435.3:c.812A>G NP_001156907.2:p.Lys271Arg NC_000004.12:106247257:T:C p.(Lys271Arg) NC_000004.12:106247257:T:C p.(Lys271Arg) NC_000004.12:106247257:T:C Identity +NM_001007097.3:c.1283G>A NP_001007098.1:p.Arg428Gln NC_000009.12:84745059:G:A p.(Arg428Gln) NC_000009.12:84745059:G:A p.(Arg428Gln) NC_000009.12:84745059:G:A Identity +NM_001388492.1:c.2085del NP_001375421.1:p.Gly697fs NC_000004.12:3131383:A: p.(Gly697GlufsTer11) NC_000004.12:3131383:A: p.(Gly697GlufsTer11) NC_000004.12:3131383:A: Analogous +NM_000087.5:c.2047A>C NP_000078.3:p.Ile683Leu NC_000004.12:47936434:T:G p.(Ile683Leu) NC_000004.12:47936434:T:G p.(Ile683Leu) NC_000004.12:47936434:T:G Identity +NM_001306079.2:c.810A>T NP_001293008.1:p.Arg270Ser NC_000002.12:27223562:A:T p.(Arg270Ser) NC_000002.12:27223562:A:T p.(Arg270Ser) NC_000002.12:27223562:A:T Identity +NM_005045.4:c.10273G>A NP_005036.2:p.Val3425Ile NC_000007.14:103482879:C:T p.(Val3425Ile) NC_000007.14:103482879:C:T p.(Val3425Ile) NC_000007.14:103482879:C:T Identity +NM_017617.5:c.4756C>T NP_060087.3:p.Arg1586Cys NC_000009.12:136504934:G:A p.(Arg1586Cys) NC_000009.12:136504934:G:A p.(Arg1586Cys) NC_000009.12:136504934:G:A Identity +NM_000717.5:c.136T>G NP_000708.1:p.Cys46Gly NC_000017.11:60156582:T:G p.(Cys46Gly) NC_000017.11:60156582:T:G p.(Cys46Gly) NC_000017.11:60156582:T:G Identity +NM_001271933.2:c.2997G>T NP_001258862.1:p.Gln999His NC_000011.10:117395620:G:T p.(Gln999His) NC_000011.10:117395620:G:T p.(Gln999His) NC_000011.10:117395620:G:T Identity +NM_001346279.2:c.3067G>A NP_001333208.1:p.Glu1023Lys NC_000011.10:10778721:G:A p.(Glu1023Lys) NC_000011.10:10778721:G:A p.(Glu1023Lys) NC_000011.10:10778721:G:A Identity +NM_001371986.1:c.2479G>A NP_001358915.1:p.Ala827Thr NC_000002.12:209829231:G:A p.(Ala827Thr) NC_000002.12:209829231:G:A p.(Ala827Thr) NC_000002.12:209829231:G:A Identity +NM_001079812.3:c.1999C>T NP_001073280.1:p.Pro667Ser NC_000005.10:141573823:G:A p.(Pro667Ser) NC_000005.10:141573823:G:A p.(Pro667Ser) NC_000005.10:141573823:G:A Identity +NM_000323.2:c.1283A>G NP_000314.1:p.Glu428Gly NC_000010.11:43111225:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001159291.2:c.2161C>A NP_001152763.1:p.Arg721Ser NC_000006.12:109446297:G:T p.(Arg721Ser) NC_000006.12:109446297:G:T p.(Arg721Ser) NC_000006.12:109446297:G:T Identity +NM_000553.6:c.1480T>G NP_000544.2:p.Cys494Gly NC_000008.11:31087823:T:G p.(Cys494Gly) NC_000008.11:31087823:T:G p.(Cys494Gly) NC_000008.11:31087823:T:G Identity +NM_000383.4:c.1142C>T NP_000374.1:p.Pro381Leu NC_000021.9:44293038:C:T p.(Pro381Leu) NC_000021.9:44293038:C:T p.(Pro381Leu) NC_000021.9:44293038:C:T Identity +NM_001363734.1:c.3491A>G NP_001350663.1:p.Lys1164Arg NC_000020.11:32436385:A:G p.(Lys1164Arg) NC_000020.11:32436385:A:G p.(Lys1164Arg) NC_000020.11:32436385:A:G Identity +NM_001004334.4:c.4549A>G NP_001004334.3:p.Met1517Val NC_000017.11:38329019:T:C p.(Met1517Val) NC_000017.11:38329019:T:C p.(Met1517Val) NC_000017.11:38329019:T:C Identity +NM_199037.5:c.778A>G NP_950238.1:p.Ile260Val NC_000019.10:35034068:A:G p.(Ile260Val) NC_000019.10:35034068:A:G p.(Ile260Val) NC_000019.10:35034068:A:G Identity +NM_018714.3:c.509T>C NP_061184.1:p.Leu170Pro NC_000017.11:73196699:T:C p.(Leu170Pro) NC_000017.11:73196699:T:C p.(Leu170Pro) NC_000017.11:73196699:T:C Identity +NM_001366110.1:c.181T>C NP_001353039.1:p.Tyr61His NC_000007.14:127615058:A:G p.(Tyr61His) NC_000007.14:127615058:A:G p.(Tyr61His) NC_000007.14:127615058:A:G Identity +NM_000256.3:c.67G>C NP_000247.2:p.Ala23Pro NC_000011.10:47351463:C:G p.(Ala23Pro) NC_000011.10:47351463:C:G p.(Ala23Pro) NC_000011.10:47351463:C:G Identity +NM_001330723.2:c.211A>C NP_001317652.1:p.Asn71His NC_000001.11:151612411:A:C p.(Asn71His) NC_000001.11:151612411:A:C p.(Asn71His) NC_000001.11:151612411:A:C Identity +NM_001111125.3:c.125G>A NP_001104595.1:p.Arg42Gln NC_000023.11:53320998:C:T p.(Arg42Gln) NC_000023.11:53320998:C:T p.(Arg42Gln) NC_000023.11:53320998:C:T Identity +NM_001037.5:c.290G>C NP_001028.1:p.Gly97Ala NC_000019.10:35033580:G:C p.(Gly97Ala) NC_000019.10:35033580:G:C p.(Gly97Ala) NC_000019.10:35033580:G:C Identity +NM_002334.4:c.1333G>A NP_002325.2:p.Ala445Thr NC_000011.10:46894795:C:T p.(Ala445Thr) NC_000011.10:46894795:C:T p.(Ala445Thr) NC_000011.10:46894795:C:T Identity +NM_001282424.3:c.315G>C NP_001269353.2:p.Glu105Asp NC_000012.12:8847652:G:C p.(Glu105Asp) NC_000012.12:8847652:G:C p.(Glu105Asp) NC_000012.12:8847652:G:C Identity +NM_001004334.4:c.1544G>A NP_001004334.3:p.Arg515Gln NC_000017.11:38335133:C:T p.(Arg515Gln) NC_000017.11:38335133:C:T p.(Arg515Gln) NC_000017.11:38335133:C:T Identity +NM_001278511.2:c.2128G>C NP_001265440.1:p.Gly710Arg NC_000015.10:82663955:C:G p.(Gly710Arg) NC_000015.10:82663955:C:G p.(Gly710Arg) NC_000015.10:82663955:C:G Identity +NM_000052.7:c.3421A>C NP_000043.4:p.Asn1141His NC_000023.11:78033730:A:C p.(Asn1141His) NC_000023.11:78033730:A:C p.(Asn1141His) NC_000023.11:78033730:A:C Identity +NM_030665.4:c.3401C>T NP_109590.3:p.Pro1134Leu NC_000017.11:17796348:C:T p.(Pro1134Leu) NC_000017.11:17796348:C:T p.(Pro1134Leu) NC_000017.11:17796348:C:T Identity +NM_002473.6:c.3890G>A NP_002464.1:p.Ser1297Asn NC_000022.11:36293810:C:T p.(Ser1297Asn) NC_000022.11:36293810:C:T p.(Ser1297Asn) NC_000022.11:36293810:C:T Identity +NM_001166102.2:c.1130G>T NP_001159574.1:p.Arg377Leu NC_000011.10:67611972:G:T p.(Arg377Leu) NC_000011.10:67611972:G:T p.(Arg377Leu) NC_000011.10:67611972:G:T Identity +NM_000495.5:c.557G>A NP_000486.1:p.Gly186Asp NC_000023.11:108575919:G:A p.(Gly186Asp) NC_000023.11:108575919:G:A p.(Gly186Asp) NC_000023.11:108575919:G:A Identity +NM_001098398.2:c.1385G>A NP_001091868.1:p.Gly462Asp NC_000001.11:160306410:C:T p.(Gly462Asp) NC_000001.11:160306410:C:T p.(Gly462Asp) NC_000001.11:160306410:C:T Identity +NM_001271999.2:c.3614T>G NP_001258928.1:p.Leu1205Arg NC_000001.11:62529443:A:C p.(Leu1205Arg) NC_000001.11:62529443:A:C p.(Leu1205Arg) NC_000001.11:62529443:A:C Identity +NM_000368.5:c.371C>G NP_000359.1:p.Thr124Ser NC_000009.12:132923484:G:C p.(Thr124Ser) NC_000009.12:132923484:G:C p.(Thr124Ser) NC_000009.12:132923484:G:C Identity +NM_001304536.2:c.2921C>T NP_001291465.1:p.Thr974Ile NC_000002.12:221426067:G:A p.(Thr974Ile) NC_000002.12:221426067:G:A p.(Thr974Ile) NC_000002.12:221426067:G:A Identity +NM_000065.5:c.2056T>A NP_000056.2:p.Cys686Ser NC_000005.10:41155016:A:T p.(Cys686Ser) NC_000005.10:41155016:A:T p.(Cys686Ser) NC_000005.10:41155016:A:T Identity +NM_000249.4:c.2099A>G NP_000240.1:p.Gln700Arg NC_000003.12:37049012:A:G p.(Gln700Arg) NC_000003.12:37049012:A:G p.(Gln700Arg) NC_000003.12:37049012:A:G Identity +NM_025074.7:c.8344A>G NP_079350.5:p.Ile2782Val NC_000004.12:78479618:A:G p.(Ile2782Val) NC_000004.12:78479618:A:G p.(Ile2782Val) NC_000004.12:78479618:A:G Identity +NM_032444.4:c.3334A>G NP_115820.2:p.Lys1112Glu NC_000016.10:3590303:T:C p.(Lys1112Glu) NC_000016.10:3590303:T:C p.(Lys1112Glu) NC_000016.10:3590303:T:C Identity +NM_007348.4:c.415T>G NP_031374.2:p.Ser139Ala NC_000001.11:161791467:T:G p.(Ser139Ala) NC_000001.11:161791467:T:G p.(Ser139Ala) NC_000001.11:161791467:T:G Identity +NM_000264.5:c.1978T>A NP_000255.2:p.Ser660Thr NC_000009.12:95469022:A:T p.(Ser660Thr) NC_000009.12:95469022:A:T p.(Ser660Thr) NC_000009.12:95469022:A:T Identity +NM_001271466.4:c.1669G>A NP_001258395.2:p.Ala557Thr NC_000002.12:231291394:G:A p.(Ala557Thr) NC_000002.12:231291394:G:A p.(Ala557Thr) NC_000002.12:231291394:G:A Identity +NM_020312.4:c.5C>T NP_064708.1:p.Ala2Val NC_000016.10:57447509:C:T p.(Ala2Val) NC_000016.10:57447509:C:T p.(Ala2Val) NC_000016.10:57447509:C:T Identity +NM_001386500.1:c.585dup NP_001373429.1:p.Val196fs NC_000001.11:11256111:AAAAA:AAAAAA p.(Val196CysfsTer12) NC_000001.11:11256111:AAAAA:AAAAAA p.(Val196CysfsTer12) ERR:SPDI Analogous +NM_001302959.2:c.799_800insC NP_001289888.1:p.Gly267fs NC_000011.10:67490976::C p.(Gly267AlafsTer?) NC_000011.10:67490975:G:C p.(Gly267AlafsTer?) NC_000011.10:67490976:GG:C Analogous +NM_001040633.2:c.434A>G NP_001035723.1:p.Asn145Ser NC_000007.14:151675537:T:C p.(Asn145Ser) NC_000007.14:151675537:T:C p.(Asn145Ser) NC_000007.14:151675537:T:C Identity +NM_000388.4:c.1925T>C NP_000379.3:p.Ile642Thr NC_000003.12:122283878:T:C p.(Ile642Thr) NC_000003.12:122283878:T:C p.(Ile642Thr) NC_000003.12:122283878:T:C Identity +NM_001291997.2:c.622G>C NP_001278926.1:p.Val208Leu NC_000016.10:78432656:G:C p.(Val208Leu) NC_000016.10:78432656:G:C p.(Val208Leu) NC_000016.10:78432656:G:C Identity +NM_004104.5:c.3613G>A NP_004095.4:p.Glu1205Lys NC_000017.11:82086372:C:T p.(Glu1205Lys) NC_000017.11:82086372:C:T p.(Glu1205Lys) NC_000017.11:82086372:C:T Identity +NM_001127698.2:c.37G>T NP_001121170.1:p.Ala13Ser NC_000005.10:148064080:G:T p.(Ala13Ser) NC_000005.10:148064080:G:T p.(Ala13Ser) NC_000005.10:148064080:G:T Identity +NM_002076.4:c.1114A>C NP_002067.1:p.Ile372Leu NC_000012.12:64729041:T:G p.(Ile372Leu) NC_000012.12:64729041:T:G p.(Ile372Leu) NC_000012.12:64729041:T:G Identity +NM_016247.4:c.3090G>C NP_057331.2:p.Trp1030Cys NC_000003.12:101232923:C:G p.(Trp1030Cys) NC_000003.12:101232923:C:G p.(Trp1030Cys) NC_000003.12:101232923:C:G Identity +NM_001270949.2:c.428T>C NP_001257878.1:p.Leu143Ser NC_000018.10:62358247:T:C p.(Leu143Ser) NC_000018.10:62358247:T:C p.(Leu143Ser) NC_000018.10:62358247:T:C Identity +NM_000069.3:c.3669C>G NP_000060.2:p.Asp1223Glu NC_000001.11:201053584:G:C p.(Asp1223Glu) NC_000001.11:201053584:G:C p.(Asp1223Glu) NC_000001.11:201053584:G:C Identity +NM_001853.4:c.829G>A NP_001844.3:p.Gly277Ser NC_000020.11:62827276:G:A p.(Gly277Ser) NC_000020.11:62827276:G:A p.(Gly277Ser) NC_000020.11:62827276:G:A Identity +NM_001039550.2:c.290G>A NP_001034639.1:p.Arg97His NC_000002.12:219281998:G:A p.(Arg97His) NC_000002.12:219281998:G:A p.(Arg97His) NC_000002.12:219281998:G:A Identity +NM_001135999.2:c.853A>G NP_001129471.2:p.Ser285Gly NC_000009.12:35547373:A:G p.(Ser285Gly) NC_000009.12:35547373:A:G p.(Ser285Gly) NC_000009.12:35547373:A:G Identity +NM_001351527.2:c.4517T>A NP_001338456.1:p.Met1506Lys NC_000009.12:132327080:A:T p.(Met1506Lys) NC_000009.12:132327080:A:T p.(Met1506Lys) NC_000009.12:132327080:A:T Identity +NM_000283.4:c.192G>C NP_000274.3:p.Gln64His NC_000004.12:625817:G:C p.(Gln64His) NC_000004.12:625817:G:C p.(Gln64His) NC_000004.12:625817:G:C Identity +NM_080473.5:c.73G>T NP_536721.1:p.Ala25Ser NC_000020.11:62475448:C:A p.(Ala25Ser) NC_000020.11:62475448:C:A p.(Ala25Ser) NC_000020.11:62475448:C:A Identity +NM_000097.7:c.266C>T NP_000088.3:p.Ala89Val NC_000003.12:98593238:G:A p.(Ala89Val) NC_000003.12:98593238:G:A p.(Ala89Val) NC_000003.12:98593238:G:A Identity +NM_003322.6:c.257C>A NP_003313.3:p.Thr86Lys NC_000006.12:35511739:G:T p.(Thr86Lys) NC_000006.12:35511739:G:T p.(Thr86Lys) NC_000006.12:35511739:G:T Identity +NM_018713.3:c.217G>A NP_061183.2:p.Gly73Ser NC_000001.11:219928223:C:T p.(Gly73Ser) NC_000001.11:219928223:C:T p.(Gly73Ser) NC_000001.11:219928223:C:T Identity +NM_006231.4:c.5488_5489delinsAT NP_006222.2:p.Ser1830Ile NC_000012.12:132639187:GA:AT p.(Ser1830Ile) NC_000012.12:132639187:GA:AT p.(Ser1830Ile) NC_000012.12:132639187:GA:AT Identity +NM_001145661.2:c.774C>A NP_001139133.1:p.His258Gln NC_000003.12:128485823:G:T p.(His258Gln) NC_000003.12:128485823:G:T p.(His258Gln) NC_000003.12:128485823:G:T Identity +NM_000426.4:c.2392A>G NP_000417.3:p.Lys798Glu NC_000006.12:129270692:A:G p.(Lys798Glu) NC_000006.12:129270692:A:G p.(Lys798Glu) NC_000006.12:129270692:A:G Identity +NM_001042437.2:c.85C>G NP_001035902.1:p.Arg29Gly NC_000002.12:85863413:G:C p.(Arg29Gly) NC_000002.12:85863413:G:C p.(Arg29Gly) NC_000002.12:85863413:G:C Identity +NM_001165963.4:c.4555C>G NP_001159435.1:p.Pro1519Ala NC_000002.12:165996038:G:C p.(Pro1519Ala) NC_000002.12:165996038:G:C p.(Pro1519Ala) NC_000002.12:165996038:G:C Identity +NM_001130144.3:c.926C>T NP_001123616.1:p.Thr309Ile NC_000011.10:65553468:G:A p.(Thr309Ile) NC_000011.10:65553468:G:A p.(Thr309Ile) NC_000011.10:65553468:G:A Identity +NM_002292.4:c.4001G>A NP_002283.3:p.Arg1334Gln NC_000003.12:49123354:C:T p.(Arg1334Gln) NC_000003.12:49123354:C:T p.(Arg1334Gln) NC_000003.12:49123354:C:T Identity +NM_001367624.2:c.7495C>A NP_001354553.1:p.Pro2499Thr NC_000016.10:88434964:C:A p.(Pro2499Thr) NC_000016.10:88434964:C:A p.(Pro2499Thr) NC_000016.10:88434964:C:A Identity +NM_001371986.1:c.1438G>A NP_001358915.1:p.Glu480Lys NC_000002.12:209817010:G:A p.(Glu480Lys) NC_000002.12:209817010:G:A p.(Glu480Lys) NC_000002.12:209817010:G:A Identity +NM_001193465.2:c.1154C>T NP_001180394.1:p.Ala385Val NC_000017.11:46170989:G:A p.(Ala385Val) NC_000017.11:46170989:G:A p.(Ala385Val) NC_000017.11:46170989:G:A Identity +NM_000038.6:c.1633G>A NP_000029.2:p.Ala545Thr NC_000005.10:112828861:G:A p.(Ala545Thr) NC_000005.10:112828861:G:A p.(Ala545Thr) NC_000005.10:112828861:G:A Identity +NM_001286957.2:c.180G>A NP_001273886.1:p.Met60Ile NC_000012.12:48917107:G:A p.(Met60Ile) NC_000012.12:48917107:G:A p.(Met60Ile) NC_000012.12:48917107:G:A Identity +NM_001271933.2:c.2894T>G NP_001258862.1:p.Val965Gly NC_000011.10:117395162:T:G p.(Val965Gly) NC_000011.10:117395162:T:G p.(Val965Gly) NC_000011.10:117395162:T:G Identity +NM_001205319.1:c.850G>T NP_001192248.1:p.Ala284Ser NC_000017.11:801082:C:A p.(Ala284Ser) NC_000017.11:801082:C:A p.(Ala284Ser) NC_000017.11:801082:C:A Identity +NM_001365536.1:c.318A>T NP_001352465.1:p.Leu106Phe NC_000002.12:166307014:T:A p.(Leu106Phe) NC_000002.12:166307014:T:A p.(Leu106Phe) NC_000002.12:166307014:T:A Identity +NM_000057.4:c.3212A>G NP_000048.1:p.Asp1071Gly NC_000015.10:90798190:A:G p.(Asp1071Gly) NC_000015.10:90798190:A:G p.(Asp1071Gly) NC_000015.10:90798190:A:G Identity +NM_000271.5:c.3197C>A NP_000262.2:p.Thr1066Asn NC_000018.10:23536720:G:T p.(Thr1066Asn) NC_000018.10:23536720:G:T p.(Thr1066Asn) NC_000018.10:23536720:G:T Identity +NM_001006600.3:c.1039A>G NP_001006600.1:p.Ile347Val NC_000005.10:66026319:A:G p.(Ile347Val) NC_000005.10:66026319:A:G p.(Ile347Val) NC_000005.10:66026319:A:G Identity +NM_001136536.5:c.1603A>G NP_001130008.2:p.Thr535Ala NC_000004.12:36343575:A:G p.(Thr535Ala) NC_000004.12:36343575:A:G p.(Thr535Ala) NC_000004.12:36343575:A:G Identity +NM_001164665.2:c.1591C>T NP_001158137.1:p.Pro531Ser NC_000007.14:138918034:G:A p.(Pro531Ser) NC_000007.14:138918034:G:A p.(Pro531Ser) NC_000007.14:138918034:G:A Identity +NM_000465.4:c.1105A>G NP_000456.2:p.Lys369Glu NC_000002.12:214780768:T:C p.(Lys369Glu) NC_000002.12:214780768:T:C p.(Lys369Glu) NC_000002.12:214780768:T:C Identity +NM_004006.3:c.9491A>T NP_003997.2:p.Glu3164Val NC_000023.11:31209569:T:A p.(Glu3164Val) NC_000023.11:31209569:T:A p.(Glu3164Val) NC_000023.11:31209569:T:A Identity +NM_032130.3:c.977G>A NP_115506.1:p.Gly326Asp NC_000012.12:49600662:C:T p.(Gly326Asp) NC_000012.12:49600662:C:T p.(Gly326Asp) NC_000012.12:49600662:C:T Identity +NM_000492.4:c.377G>C NP_000483.3:p.Gly126Ala NC_000007.14:117531001:G:C p.(Gly126Ala) NC_000007.14:117531001:G:C p.(Gly126Ala) NC_000007.14:117531001:G:C Identity +NM_007055.4:c.271C>T NP_008986.2:p.Pro91Ser NC_000010.11:78025668:G:A p.(Pro91Ser) NC_000010.11:78025668:G:A p.(Pro91Ser) NC_000010.11:78025668:G:A Identity +NM_001142929.2:c.1831G>A NP_001136401.2:p.Glu611Lys NC_000010.11:49664983:G:A p.(Glu611Lys) NC_000010.11:49664983:G:A p.(Glu611Lys) NC_000010.11:49664983:G:A Identity +NM_006939.4:c.2985G>A NP_008870.2:p.Met995Ile NC_000014.9:50134212:C:T p.(Met995Ile) NC_000014.9:50134212:C:T p.(Met995Ile) NC_000014.9:50134212:C:T Identity +NM_032119.4:c.9492T>G NP_115495.3:p.Asp3164Glu NC_000005.10:90720091:T:G p.(Asp3164Glu) NC_000005.10:90720091:T:G p.(Asp3164Glu) NC_000005.10:90720091:T:G Identity +NM_000400.4:c.1770T>A NP_000391.1:p.Asn590Lys NC_000019.10:45353143:A:T p.(Asn590Lys) NC_000019.10:45353143:A:T p.(Asn590Lys) NC_000019.10:45353143:A:T Identity +NM_001114331.3:c.2234TGG[3] NP_001107803.1:p.Val748del NC_000016.10:1447019:CCACCACCACCA:CCACCACCA p.(Val748del) NC_000016.10:1447030:A:CCACCACCA ERR:Parse ERR:Parse Identity +NM_001305275.2:c.1026G>C NP_001292204.1:p.Met342Ile NC_000001.11:1041550:G:C p.(Met342Ile) NC_000001.11:1041550:G:C p.(Met342Ile) NC_000001.11:1041550:G:C Identity +NM_001289905.2:c.692A>G NP_001276834.1:p.Gln231Arg NC_000022.11:17102231:A:G p.(Gln231Arg) NC_000022.11:17102231:A:G p.(Gln231Arg) NC_000022.11:17102231:A:G Identity +NM_018685.5:c.1567A>G NP_061155.2:p.Thr523Ala NC_000007.14:36417123:A:G p.(Thr523Ala) NC_000007.14:36417123:A:G p.(Thr523Ala) NC_000007.14:36417123:A:G Identity +NM_001190799.2:c.1381A>G NP_001177728.1:p.Thr461Ala NC_000004.12:127889882:A:G p.(Thr461Ala) NC_000004.12:127889882:A:G p.(Thr461Ala) NC_000004.12:127889882:A:G Identity +NM_015072.5:c.1550G>A NP_055887.3:p.Arg517Lys NC_000014.9:75752954:G:A p.(Arg517Lys) NC_000014.9:75752954:G:A p.(Arg517Lys) NC_000014.9:75752954:G:A Identity +NM_002506.3:c.136A>G NP_002497.2:p.Thr46Ala NC_000001.11:115286659:T:C p.(Thr46Ala) NC_000001.11:115286659:T:C p.(Thr46Ala) NC_000001.11:115286659:T:C Identity +NM_018060.4:c.351T>G NP_060530.3:p.Tyr117Ter NC_000001.11:220096186:T:G p.(Tyr117Ter) NC_000001.11:220096186:T:G p.(Tyr117Ter) NC_000001.11:220096186:T:G Identity +NM_001164277.2:c.596T>G NP_001157749.1:p.Leu199Arg NC_000011.10:119027656:A:C p.(Leu199Arg) NC_000011.10:119027656:A:C p.(Leu199Arg) NC_000011.10:119027656:A:C Identity +NM_004211.5:c.27G>A NP_004202.4:p.Met9Ile NC_000011.10:20601151:G:A p.(Met9Ile) NC_000011.10:20601151:G:A p.(Met9Ile) NC_000011.10:20601151:G:A Identity +NM_001178007.2:c.437C>T NP_001171478.1:p.Thr146Ile NC_000004.12:122742328:C:T p.(Thr146Ile) NC_000004.12:122742328:C:T p.(Thr146Ile) NC_000004.12:122742328:C:T Identity +NM_006785.4:c.2265C>G NP_006776.1:p.Asp755Glu NC_000018.10:58747631:C:G p.(Asp755Glu) NC_000018.10:58747631:C:G p.(Asp755Glu) NC_000018.10:58747631:C:G Identity +NM_001202554.2:c.88A>G NP_001189483.1:p.Asn30Asp NC_000001.11:26794121:A:G p.(Asn30Asp) NC_000001.11:26794121:A:G p.(Asn30Asp) NC_000001.11:26794121:A:G Identity +NM_000081.4:c.11212G>A NP_000072.2:p.Asp3738Asn NC_000001.11:235664038:C:T p.(Asp3738Asn) NC_000001.11:235664038:C:T p.(Asp3738Asn) NC_000001.11:235664038:C:T Identity +NM_001286577.2:c.5906C>T NP_001273506.1:p.Ser1969Leu NC_000011.10:74034253:G:A p.(Ser1969Leu) NC_000011.10:74034253:G:A p.(Ser1969Leu) NC_000011.10:74034253:G:A Identity +NM_001033559.3:c.779A>G NP_001028731.1:p.Glu260Gly NC_000015.10:55450225:T:C p.(Glu260Gly) NC_000015.10:55450225:T:C p.(Glu260Gly) NC_000015.10:55450225:T:C Identity +NM_001135999.2:c.3611C>A NP_001129471.2:p.Ser1204Tyr NC_000009.12:35560250:C:A p.(Ser1204Tyr) NC_000009.12:35560250:C:A p.(Ser1204Tyr) NC_000009.12:35560250:C:A Identity +NM_001127649.3:c.877G>A NP_001121121.1:p.Ala293Thr NC_000022.11:18088033:G:A p.(Ala293Thr) NC_000022.11:18088033:G:A p.(Ala293Thr) NC_000022.11:18088033:G:A Identity +NM_020949.3:c.341A>G NP_066000.2:p.Lys114Arg NC_000003.12:170501308:T:C p.(Lys114Arg) NC_000003.12:170501308:T:C p.(Lys114Arg) NC_000003.12:170501308:T:C Identity +NM_001363813.1:c.2069G>C NP_001350742.1:p.Gly690Ala NC_000017.11:65534052:C:G p.(Gly690Ala) NC_000017.11:65534052:C:G p.(Gly690Ala) NC_000017.11:65534052:C:G Identity +NM_000548.5:c.2737A>T NP_000539.2:p.Thr913Ser NC_000016.10:2076164:A:T p.(Thr913Ser) NC_000016.10:2076164:A:T p.(Thr913Ser) NC_000016.10:2076164:A:T Identity +NM_001040002.2:c.160A>G NP_001035091.1:p.Ser54Gly NC_000017.11:43643624:T:C p.(Ser54Gly) NC_000017.11:43643624:T:C p.(Ser54Gly) NC_000017.11:43643624:T:C Identity +NM_001079802.2:c.1022C>T NP_001073270.1:p.Pro341Leu NC_000009.12:105618069:C:T p.(Pro341Leu) NC_000009.12:105618069:C:T p.(Pro341Leu) NC_000009.12:105618069:C:T Identity +NM_024747.6:c.1960G>A NP_079023.2:p.Asp654Asn NC_000010.11:102067433:G:A p.(Asp654Asn) NC_000010.11:102067433:G:A p.(Asp654Asn) NC_000010.11:102067433:G:A Identity +NM_001161520.2:c.2T>C NP_001154992.2:p.Met1Thr NC_000007.14:107563894:A:G p.(Met1Thr) NC_000007.14:107563894:A:G p.Met1? NC_000007.14:107563894:A:G Identity +NM_032043.3:c.1880T>G NP_114432.2:p.Leu627Arg NC_000017.11:61780315:A:C p.(Leu627Arg) NC_000017.11:61780315:A:C p.(Leu627Arg) NC_000017.11:61780315:A:C Identity +NM_152594.3:c.1307G>A NP_689807.1:p.Cys436Tyr NC_000015.10:38351635:G:A p.(Cys436Tyr) NC_000015.10:38351635:G:A p.(Cys436Tyr) NC_000015.10:38351635:G:A Identity +NM_001164313.2:c.889A>G NP_001157785.1:p.Lys297Glu NC_000006.12:109481137:T:C p.(Lys297Glu) NC_000006.12:109481137:T:C p.(Lys297Glu) NC_000006.12:109481137:T:C Identity +NM_018942.3:c.941C>G NP_061815.2:p.Pro314Arg NC_000004.12:8867798:G:C p.(Pro314Arg) NC_000004.12:8867798:G:C p.(Pro314Arg) NC_000004.12:8867798:G:C Identity +NM_001065.4:c.305G>T NP_001056.1:p.Cys102Phe NC_000012.12:6333753:C:A p.(Cys102Phe) NC_000012.12:6333753:C:A p.(Cys102Phe) NC_000012.12:6333753:C:A Identity +NM_003849.4:c.113T>C NP_003840.2:p.Ile38Thr NC_000002.12:84449736:A:G p.(Ile38Thr) NC_000002.12:84449736:A:G p.(Ile38Thr) NC_000002.12:84449736:A:G Identity +NM_001012720.2:c.25A>T NP_001012738.1:p.Thr9Ser NC_000010.11:84245114:A:T p.(Thr9Ser) NC_000010.11:84245114:A:T p.(Thr9Ser) NC_000010.11:84245114:A:T Identity +NM_012238.5:c.182C>G NP_036370.2:p.Pro61Arg NC_000010.11:67884902:C:G p.(Pro61Arg) NC_000010.11:67884902:C:G p.(Pro61Arg) NC_000010.11:67884902:C:G Identity +NM_001257361.2:c.230A>G NP_001244290.1:p.Gln77Arg NC_000001.11:109626227:A:G p.(Gln77Arg) NC_000001.11:109626227:A:G p.(Gln77Arg) NC_000001.11:109626227:A:G Identity +NM_001352500.2:c.1045G>A NP_001339429.1:p.Glu349Lys NC_000013.11:49549457:C:T p.(Glu349Lys) NC_000013.11:49549457:C:T p.(Glu349Lys) NC_000013.11:49549457:C:T Identity +NM_000238.4:c.1289C>A NP_000229.1:p.Ala430Asp NC_000007.14:150952692:G:T p.(Ala430Asp) NC_000007.14:150952692:G:T p.(Ala430Asp) NC_000007.14:150952692:G:T Identity +NM_001346897.2:c.439C>A NP_001333826.1:p.Pro147Thr NC_000007.14:55151307:C:A p.(Pro147Thr) NC_000007.14:55151307:C:A p.(Pro147Thr) NC_000007.14:55151307:C:A Identity +NM_207391.3:c.550G>A NP_997274.2:p.Glu184Lys NC_000019.10:32676812:G:A p.(Glu184Lys) NC_000019.10:32676812:G:A p.(Glu184Lys) NC_000019.10:32676812:G:A Identity +NM_024105.4:c.1211G>A NP_077010.1:p.Arg404Gln NC_000022.11:49904205:C:T p.(Arg404Gln) NC_000022.11:49904205:C:T p.(Arg404Gln) NC_000022.11:49904205:C:T Identity +NM_000256.3:c.209A>G NP_000247.2:p.Glu70Gly NC_000011.10:47351321:T:C p.(Glu70Gly) NC_000011.10:47351321:T:C p.(Glu70Gly) NC_000011.10:47351321:T:C Identity +NM_001999.4:c.798C>G NP_001990.2:p.Ile266Met NC_000005.10:128464751:G:C p.(Ile266Met) NC_000005.10:128464751:G:C p.(Ile266Met) NC_000005.10:128464751:G:C Identity +NM_005654.6:c.255G>C NP_005645.1:p.Glu85Asp NC_000005.10:93585277:G:C p.(Glu85Asp) NC_000005.10:93585277:G:C p.(Glu85Asp) NC_000005.10:93585277:G:C Identity +NM_000255.4:c.2123A>G NP_000246.2:p.Gln708Arg NC_000006.12:49435456:T:C p.(Gln708Arg) NC_000006.12:49435456:T:C p.(Gln708Arg) NC_000006.12:49435456:T:C Identity +NM_001185039.2:c.1254C>A NP_001171968.1:p.Asn418Lys NC_000017.11:75949827:G:T p.(Asn418Lys) NC_000017.11:75949827:G:T p.(Asn418Lys) NC_000017.11:75949827:G:T Identity +NM_004064.5:c.16G>C NP_004055.1:p.Val6Leu NC_000012.12:12717854:G:C p.(Val6Leu) NC_000012.12:12717854:G:C p.(Val6Leu) NC_000012.12:12717854:G:C Identity +NM_001098426.2:c.1462A>G NP_001091896.1:p.Asn488Asp NC_000017.11:63833148:T:C p.(Asn488Asp) NC_000017.11:63833148:T:C p.(Asn488Asp) NC_000017.11:63833148:T:C Identity +NM_001375.3:c.287A>G NP_001366.1:p.Asn96Ser NC_000019.10:12880860:T:C p.(Asn96Ser) NC_000019.10:12880860:T:C p.(Asn96Ser) NC_000019.10:12880860:T:C Identity +NM_000251.3:c.510G>T NP_000242.1:p.Gln170His NC_000002.12:47410236:G:T p.(Gln170His) NC_000002.12:47410236:G:T p.(Gln170His) NC_000002.12:47410236:G:T Identity +NM_001276504.2:c.357G>T NP_001263433.1:p.Lys119Asn NC_000011.10:112094963:G:T p.(Lys119Asn) NC_000011.10:112094963:G:T p.(Lys119Asn) NC_000011.10:112094963:G:T Identity +NM_001384474.1:c.1963T>C NP_001371403.1:p.Cys655Arg NC_000018.10:46577713:A:G p.(Cys655Arg) NC_000018.10:46577713:A:G p.(Cys655Arg) NC_000018.10:46577713:A:G Identity +NM_001164665.2:c.1769C>A NP_001158137.1:p.Thr590Lys NC_000007.14:138917856:G:T p.(Thr590Lys) NC_000007.14:138917856:G:T p.(Thr590Lys) NC_000007.14:138917856:G:T Identity +NM_001305275.2:c.565G>A NP_001292204.1:p.Gly189Arg NC_000001.11:1040717:G:A p.(Gly189Arg) NC_000001.11:1040717:G:A p.(Gly189Arg) NC_000001.11:1040717:G:A Identity +NM_001318369.2:c.1108G>A NP_001305298.1:p.Val370Met NC_000011.10:20637243:G:A p.(Val370Met) NC_000011.10:20637243:G:A p.(Val370Met) NC_000011.10:20637243:G:A Identity +NM_001206927.2:c.2885T>C NP_001193856.1:p.Met962Thr NC_000006.12:38791657:T:C p.(Met962Thr) NC_000006.12:38791657:T:C p.(Met962Thr) NC_000006.12:38791657:T:C Identity +NM_002389.4:c.577C>T NP_002380.3:p.Pro193Ser NC_000001.11:207761349:C:T p.(Pro193Ser) NC_000001.11:207761349:C:T p.(Pro193Ser) NC_000001.11:207761349:C:T Identity +NM_005876.5:c.6592A>C NP_005867.3:p.Thr2198Pro NC_000002.12:219484054:A:C p.(Thr2198Pro) NC_000002.12:219484054:A:C p.(Thr2198Pro) NC_000002.12:219484054:A:C Identity +NM_000268.4:c.1658A>G NP_000259.1:p.Glu553Gly NC_000022.11:29681521:A:G p.(Glu553Gly) NC_000022.11:29681521:A:G p.(Glu553Gly) NC_000022.11:29681521:A:G Identity +NM_001126131.2:c.3203A>C NP_001119603.1:p.Asp1068Ala NC_000015.10:89319000:T:G p.(Asp1068Ala) NC_000015.10:89319000:T:G p.(Asp1068Ala) NC_000015.10:89319000:T:G Identity +NM_000111.3:c.1177G>T NP_000102.1:p.Gly393Trp NC_000007.14:107783035:C:A p.(Gly393Trp) NC_000007.14:107783035:C:A p.(Gly393Trp) NC_000007.14:107783035:C:A Identity +NM_001005407.2:c.3973C>T NP_001005407.1:p.Arg1325Trp NC_000016.10:1210585:C:T p.(Arg1325Trp) NC_000016.10:1210585:C:T p.(Arg1325Trp) NC_000016.10:1210585:C:T Identity +NM_014510.3:c.7289C>G NP_055325.2:p.Pro2430Arg NC_000007.14:82953663:G:C p.(Pro2430Arg) NC_000007.14:82953663:G:C p.(Pro2430Arg) NC_000007.14:82953663:G:C Identity +NM_000548.5:c.2738C>G NP_000539.2:p.Thr913Ser NC_000016.10:2076165:C:G p.(Thr913Ser) NC_000016.10:2076165:C:G p.(Thr913Ser) NC_000016.10:2076165:C:G Identity +NM_001161520.2:c.1177T>C NP_001154992.2:p.Trp393Arg NC_000007.14:107298277:A:G p.(Trp393Arg) NC_000007.14:107298277:A:G p.(Trp393Arg) NC_000007.14:107298277:A:G Identity +NM_001281302.2:c.142C>A NP_001268231.1:p.Pro48Thr NC_000005.10:74763696:G:T p.(Pro48Thr) NC_000005.10:74763696:G:T p.(Pro48Thr) NC_000005.10:74763696:G:T Identity +NM_001322033.2:c.13C>T NP_001308962.1:p.His5Tyr NC_000019.10:38647757:C:T p.(His5Tyr) NC_000019.10:38647757:C:T p.(His5Tyr) NC_000019.10:38647757:C:T Identity +NM_001378454.1:c.11373T>G NP_001365383.1:p.Ile3791Met NC_000002.12:73573249:T:G p.(Ile3791Met) NC_000002.12:73573249:T:G p.(Ile3791Met) NC_000002.12:73573249:T:G Identity +NM_002471.4:c.2462G>A NP_002462.2:p.Arg821Gln NC_000014.9:23394290:C:T p.(Arg821Gln) NC_000014.9:23394290:C:T p.(Arg821Gln) NC_000014.9:23394290:C:T Identity +NM_003332.4:c.67C>T NP_003323.1:p.Arg23Cys NC_000019.10:35907756:G:A p.(Arg23Cys) NC_000019.10:35907756:G:A p.(Arg23Cys) NC_000019.10:35907756:G:A Identity +NM_001350626.2:c.377G>A NP_001337555.1:p.Gly126Asp NC_000007.14:2544961:C:T p.(Gly126Asp) NC_000007.14:2544961:C:T p.(Gly126Asp) NC_000007.14:2544961:C:T Identity +NM_001031804.3:c.797T>G NP_001026974.1:p.Leu266Arg NC_000016.10:79599105:A:C p.(Leu266Arg) NC_000016.10:79599105:A:C p.(Leu266Arg) NC_000016.10:79599105:A:C Identity +NM_152542.5:c.595A>G NP_689755.3:p.Ile199Val NC_000004.12:88268852:T:C p.(Ile199Val) NC_000004.12:88268852:T:C p.(Ile199Val) NC_000004.12:88268852:T:C Identity +NM_004423.4:c.164T>C NP_004414.3:p.Val55Ala NC_000003.12:184163658:T:C p.(Val55Ala) NC_000003.12:184163658:T:C p.(Val55Ala) NC_000003.12:184163658:T:C Identity +NM_001164665.2:c.857G>A NP_001158137.1:p.Arg286Gln NC_000007.14:138918768:C:T p.(Arg286Gln) NC_000007.14:138918768:C:T p.(Arg286Gln) NC_000007.14:138918768:C:T Identity +NM_001006657.2:c.2813G>A NP_001006658.1:p.Arg938Gln NC_000002.12:19932325:C:T p.(Arg938Gln) NC_000002.12:19932325:C:T p.(Arg938Gln) NC_000002.12:19932325:C:T Identity +NM_024589.3:c.707C>G NP_078865.1:p.Ser236Cys NC_000016.10:4797828:G:C p.(Ser236Cys) NC_000016.10:4797828:G:C p.(Ser236Cys) NC_000016.10:4797828:G:C Identity +NM_001184985.2:c.1963G>T NP_001171914.1:p.Val655Phe NC_000012.12:862093:G:T p.(Val655Phe) NC_000012.12:862093:G:T p.(Val655Phe) NC_000012.12:862093:G:T Identity +NM_025099.6:c.1316C>T NP_079375.3:p.Pro439Leu NC_000017.11:8235175:G:A p.(Pro439Leu) NC_000017.11:8235175:G:A p.(Pro439Leu) NC_000017.11:8235175:G:A Identity +NM_001277764.2:c.670G>C NP_001264693.1:p.Ala224Pro NC_000015.10:90230937:C:G p.(Ala224Pro) NC_000015.10:90230937:C:G p.(Ala224Pro) NC_000015.10:90230937:C:G Identity +NM_001256267.2:c.2999G>A NP_001243196.1:p.Gly1000Glu NC_000010.11:68194435:G:A p.(Gly1000Glu) NC_000010.11:68194435:G:A p.(Gly1000Glu) NC_000010.11:68194435:G:A Identity +NM_000545.8:c.670C>G NP_000536.6:p.Pro224Ala NC_000012.12:120993662:C:G p.(Pro224Ala) NC_000012.12:120993662:C:G p.(Pro224Ala) NC_000012.12:120993662:C:G Identity +NM_006059.4:c.3695C>T NP_006050.3:p.Ala1232Val NC_000009.12:131077251:C:T p.(Ala1232Val) NC_000009.12:131077251:C:T p.(Ala1232Val) NC_000009.12:131077251:C:T Identity +NM_014714.4:c.482C>T NP_055529.2:p.Pro161Leu NC_000016.10:1592475:G:A p.(Pro161Leu) NC_000016.10:1592475:G:A p.(Pro161Leu) NC_000016.10:1592475:G:A Identity +NM_001178133.2:c.743A>G NP_001171604.1:p.Asp248Gly NC_000010.11:102594051:A:G p.(Asp248Gly) NC_000010.11:102594051:A:G p.(Asp248Gly) NC_000010.11:102594051:A:G Identity +NM_003924.4:c.129G>C NP_003915.2:p.Gln43His NC_000004.12:41748481:C:G p.(Gln43His) NC_000004.12:41748481:C:G p.(Gln43His) NC_000004.12:41748481:C:G Identity +NM_001127505.3:c.248A>G NP_001120977.1:p.Lys83Arg NC_000008.11:18071336:T:C p.(Lys83Arg) NC_000008.11:18071336:T:C p.(Lys83Arg) NC_000008.11:18071336:T:C Identity +NM_001135041.3:c.26G>A NP_001128513.1:p.Arg9Gln NC_000002.12:74374326:C:T p.(Arg9Gln) NC_000002.12:74374326:C:T p.(Arg9Gln) NC_000002.12:74374326:C:T Identity +NM_001042399.2:c.614A>G NP_001035858.1:p.Lys205Arg NC_000012.12:94378977:T:C p.(Lys205Arg) NC_000012.12:94378977:T:C p.(Lys205Arg) NC_000012.12:94378977:T:C Identity +NM_000059.4:c.7473G>C NP_000050.3:p.Gln2491His NC_000013.11:32356464:G:C p.(Gln2491His) NC_000013.11:32356464:G:C p.(Gln2491His) NC_000013.11:32356464:G:C Identity +NM_015909.4:c.5476A>G NP_056993.2:p.Ile1826Val NC_000002.12:15275731:T:C p.(Ile1826Val) NC_000002.12:15275731:T:C p.(Ile1826Val) NC_000002.12:15275731:T:C Identity +NM_000391.4:c.3G>C NP_000382.3:p.Met1Ile NC_000011.10:6619397:C:G p.(Met1Ile) NC_000011.10:6619397:C:G p.Met1? NC_000011.10:6619397:C:G Identity +NM_001040610.3:c.1454G>A NP_001035700.1:p.Arg485Gln NC_000015.10:82219655:C:T p.(Arg485Gln) NC_000015.10:82219655:C:T p.(Arg485Gln) NC_000015.10:82219655:C:T Identity +NM_033087.4:c.442_443del NP_149078.1:p.Asp148fs NC_000009.12:99218741:TCTCTCT:TCTCT p.(Asp148PhefsTer4) NC_000009.12:99218741:TCTCTCT:TCTCT p.(Asp148PhefsTer4) NC_000009.12:99218741:TC: Analogous +NM_001177984.3:c.3823G>T NP_001171455.1:p.Val1275Leu NC_000012.12:51786544:G:T p.(Val1275Leu) NC_000012.12:51786544:G:T p.(Val1275Leu) NC_000012.12:51786544:G:T Identity +NM_000327.4:c.404A>G NP_000318.2:p.Glu135Gly NC_000011.10:62613684:A:G p.(Glu135Gly) NC_000011.10:62613684:A:G p.(Glu135Gly) NC_000011.10:62613684:A:G Identity +NM_001321193.3:c.1151T>C NP_001308122.1:p.Val384Ala NC_000003.12:177034296:A:G p.(Val384Ala) NC_000003.12:177034296:A:G p.(Val384Ala) NC_000003.12:177034296:A:G Identity +NM_014003.4:c.3490C>T NP_054722.2:p.Arg1164Trp NC_000016.10:72110967:C:T p.(Arg1164Trp) NC_000016.10:72110967:C:T p.(Arg1164Trp) NC_000016.10:72110967:C:T Identity +NM_005045.4:c.445C>T NP_005036.2:p.Pro149Ser NC_000007.14:103833564:G:A p.(Pro149Ser) NC_000007.14:103833564:G:A p.(Pro149Ser) NC_000007.14:103833564:G:A Identity +NM_001199.4:c.1471G>A NP_001190.1:p.Asp491Asn NC_000008.11:22194750:G:A p.(Asp491Asn) NC_000008.11:22194750:G:A p.(Asp491Asn) NC_000008.11:22194750:G:A Identity +NM_000051.4:c.5497G>A NP_000042.3:p.Val1833Met NC_000011.10:108304674:G:A p.(Val1833Met) NC_000011.10:108304674:G:A p.(Val1833Met) NC_000011.10:108304674:G:A Identity +NM_001165966.2:c.415C>T NP_001159438.1:p.His139Tyr NC_000017.11:6483580:G:A p.(His139Tyr) NC_000017.11:6483580:G:A p.(His139Tyr) NC_000017.11:6483580:G:A Identity +NM_001105540.2:c.614C>T NP_001099010.1:p.Ser205Leu NC_000011.10:46366869:C:T p.(Ser205Leu) NC_000011.10:46366869:C:T p.(Ser205Leu) NC_000011.10:46366869:C:T Identity +NM_000836.4:c.1040A>T NP_000827.2:p.Asp347Val NC_000019.10:48405307:A:T p.(Asp347Val) NC_000019.10:48405307:A:T p.(Asp347Val) NC_000019.10:48405307:A:T Identity +NM_004260.4:c.789A>T NP_004251.4:p.Arg263Ser NC_000008.11:144516329:T:A p.(Arg263Ser) NC_000008.11:144516329:T:A p.(Arg263Ser) NC_000008.11:144516329:T:A Identity +NM_001143838.3:c.1286T>G NP_001137310.1:p.Leu429Arg NC_000017.11:6690929:A:C p.(Leu429Arg) NC_000017.11:6690929:A:C p.(Leu429Arg) NC_000017.11:6690929:A:C Identity +NM_005188.4:c.98T>A NP_005179.2:p.Phe33Tyr NC_000011.10:119206514:T:A p.(Phe33Tyr) NC_000011.10:119206514:T:A p.(Phe33Tyr) NC_000011.10:119206514:T:A Identity +NM_020964.3:c.5637C>G NP_066015.2:p.Ser1879Arg NC_000018.10:45880104:G:C p.(Ser1879Arg) NC_000018.10:45880104:G:C p.(Ser1879Arg) NC_000018.10:45880104:G:C Identity +NM_130468.4:c.20C>A NP_569735.1:p.Thr7Asn NC_000015.10:40471232:C:A p.(Thr7Asn) NC_000015.10:40471232:C:A p.(Thr7Asn) NC_000015.10:40471232:C:A Identity +NM_000784.4:c.152G>C NP_000775.1:p.Arg51Pro NC_000002.12:218782333:G:C p.(Arg51Pro) NC_000002.12:218782333:G:C p.(Arg51Pro) NC_000002.12:218782333:G:C Identity +NM_001167749.3:c.3919T>C NP_001161221.1:p.Tyr1307His NC_000001.11:167818175:A:G p.(Tyr1307His) NC_000001.11:167818175:A:G p.(Tyr1307His) NC_000001.11:167818175:A:G Identity +NM_000417.3:c.806G>A NP_000408.1:p.Arg269Lys NC_000010.11:6012884:C:T p.(Arg269Lys) NC_000010.11:6012884:C:T p.(Arg269Lys) NC_000010.11:6012884:C:T Identity +NM_000323.2:c.2686T>A NP_000314.1:p.Ser896Thr NC_000010.11:43120158:T:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_002098.6:c.470G>C NP_002089.4:p.Gly157Ala NC_000006.12:42185684:C:G p.(Gly157Ala) NC_000006.12:42185684:C:G p.(Gly157Ala) NC_000006.12:42185684:C:G Identity +NM_003140.3:c.212C>A NP_003131.1:p.Ser71Tyr NC_000024.10:2787391:G:T p.(Ser71Tyr) NC_000024.10:2787391:G:T p.(Ser71Tyr) NC_000024.10:2787391:G:T Identity +NM_001164098.2:c.2915C>T NP_001157570.1:p.Thr972Ile NC_000005.10:83521220:C:T p.(Thr972Ile) NC_000005.10:83521220:C:T p.(Thr972Ile) NC_000005.10:83521220:C:T Identity +NM_001114978.2:c.1475C>T NP_001108450.1:p.Pro492Leu NC_000003.12:189886518:C:T p.(Pro492Leu) NC_000003.12:189886518:C:T p.(Pro492Leu) NC_000003.12:189886518:C:T Identity +NM_000075.4:c.205C>A NP_000066.1:p.Pro69Thr NC_000012.12:57751512:G:T p.(Pro69Thr) NC_000012.12:57751512:G:T p.(Pro69Thr) NC_000012.12:57751512:G:T Identity +NM_001014797.3:c.96C>G NP_001014797.1:p.Asn32Lys NC_000010.11:77637546:G:C p.(Asn32Lys) NC_000010.11:77637546:G:C p.(Asn32Lys) NC_000010.11:77637546:G:C Identity +NM_001290307.3:c.176A>G NP_001277236.1:p.His59Arg NC_000005.10:138783246:A:G p.(His59Arg) NC_000005.10:138783246:A:G p.(His59Arg) NC_000005.10:138783246:A:G Identity +NM_001288607.2:c.2002G>A NP_001275536.1:p.Ala668Thr NC_000001.11:150557564:G:A p.(Ala668Thr) NC_000001.11:150557564:G:A p.(Ala668Thr) NC_000001.11:150557564:G:A Identity +NM_001128844.3:c.3268C>T NP_001122316.1:p.Pro1090Ser NC_000019.10:11027835:C:T p.(Pro1090Ser) NC_000019.10:11027835:C:T p.(Pro1090Ser) NC_000019.10:11027835:C:T Identity +NM_001068.3:c.796T>A NP_001059.2:p.Cys266Ser NC_000003.12:25635976:A:T p.(Cys266Ser) NC_000003.12:25635976:A:T p.(Cys266Ser) NC_000003.12:25635976:A:T Identity +NM_000323.2:c.41T>C NP_000314.1:p.Leu14Pro NC_000010.11:43077298:T:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001271933.2:c.3067G>A NP_001258862.1:p.Ala1023Thr NC_000011.10:117395690:G:A p.(Ala1023Thr) NC_000011.10:117395690:G:A p.(Ala1023Thr) NC_000011.10:117395690:G:A Identity +NM_001035.3:c.14012G>T NP_001026.2:p.Gly4671Val NC_000001.11:237798091:G:T p.(Gly4671Val) NC_000001.11:237798091:G:T p.(Gly4671Val) NC_000001.11:237798091:G:T Identity +NM_000039.3:c.668A>G NP_000030.1:p.His223Arg NC_000011.10:116835943:T:C p.(His223Arg) NC_000011.10:116835943:T:C p.(His223Arg) NC_000011.10:116835943:T:C Identity +NM_001127178.3:c.884C>T NP_001120650.1:p.Ala295Val NC_000004.12:508952:C:T p.(Ala295Val) NC_000004.12:508952:C:T p.(Ala295Val) NC_000004.12:508952:C:T Identity +NM_001999.4:c.5632T>C NP_001990.2:p.Cys1878Arg NC_000005.10:128305552:A:G p.(Cys1878Arg) NC_000005.10:128305552:A:G p.(Cys1878Arg) NC_000005.10:128305552:A:G Identity +NM_001288951.2:c.2533G>A NP_001275880.1:p.Glu845Lys NC_000002.12:47073806:G:A p.(Glu845Lys) NC_000002.12:47073806:G:A p.(Glu845Lys) NC_000002.12:47073806:G:A Identity +NM_012282.4:c.297_301del NP_036414.1:p.Glu100fs NC_000023.11:109624719:GCTCGGC:GC p.(Glu100ArgfsTer39) NC_000023.11:109624719:GCTCGGC:GC p.(Glu100ArgfsTer39) NC_000023.11:109624719:GCTCG: Analogous +NM_005546.4:c.1335T>G NP_005537.3:p.Asp445Glu NC_000005.10:157244363:T:G p.(Asp445Glu) NC_000005.10:157244363:T:G p.(Asp445Glu) NC_000005.10:157244363:T:G Identity +NM_001042692.3:c.1056G>A NP_001036157.1:p.Met352Ile NC_000002.12:63381996:C:T p.(Met352Ile) NC_000002.12:63381996:C:T p.(Met352Ile) NC_000002.12:63381996:C:T Identity +NM_015512.5:c.4472C>T NP_056327.4:p.Ala1491Val NC_000003.12:52359979:C:T p.(Ala1491Val) NC_000003.12:52359979:C:T p.(Ala1491Val) NC_000003.12:52359979:C:T Identity +NM_006245.4:c.158C>T NP_006236.1:p.Pro53Leu NC_000006.12:43006514:C:T p.(Pro53Leu) NC_000006.12:43006514:C:T p.(Pro53Leu) NC_000006.12:43006514:C:T Identity +NM_001035.3:c.5299A>G NP_001026.2:p.Ser1767Gly NC_000001.11:237614426:A:G p.(Ser1767Gly) NC_000001.11:237614426:A:G p.(Ser1767Gly) NC_000001.11:237614426:A:G Identity +NM_000535.7:c.614A>T NP_000526.2:p.Gln205Leu NC_000007.14:5999198:T:A p.(Gln205Leu) NC_000007.14:5999198:T:A p.(Gln205Leu) NC_000007.14:5999198:T:A Identity +NM_032119.4:c.220G>A NP_115495.3:p.Asp74Asn NC_000005.10:90617815:G:A p.(Asp74Asn) NC_000005.10:90617815:G:A p.(Asp74Asn) NC_000005.10:90617815:G:A Identity +NM_014510.3:c.9854C>T NP_055325.2:p.Thr3285Met NC_000007.14:82950733:G:A p.(Thr3285Met) NC_000007.14:82950733:G:A p.(Thr3285Met) NC_000007.14:82950733:G:A Identity +NM_001039476.3:c.531C>G NP_001034565.1:p.Phe177Leu NC_000016.10:92688:G:C p.(Phe177Leu) NC_000016.10:92688:G:C p.(Phe177Leu) NC_000016.10:92688:G:C Identity +NM_173560.4:c.506C>T NP_775831.2:p.Thr169Ile NC_000006.12:116882367:C:T p.(Thr169Ile) NC_000006.12:116882367:C:T p.(Thr169Ile) NC_000006.12:116882367:C:T Identity +NM_024753.5:c.3475G>A NP_079029.3:p.Ala1159Thr NC_000002.12:165884002:C:T p.(Ala1159Thr) NC_000002.12:165884002:C:T p.(Ala1159Thr) NC_000002.12:165884002:C:T Identity +NM_032444.4:c.4415T>C NP_115820.2:p.Leu1472Pro NC_000016.10:3589222:A:G p.(Leu1472Pro) NC_000016.10:3589222:A:G p.(Leu1472Pro) NC_000016.10:3589222:A:G Identity +NM_022114.4:c.2835G>T NP_071397.3:p.Arg945Ser NC_000001.11:3417970:G:T p.(Arg945Ser) NC_000001.11:3417970:G:T p.(Arg945Ser) NC_000001.11:3417970:G:T Identity +NM_015072.5:c.859G>A NP_055887.3:p.Val287Met NC_000014.9:75719750:G:A p.(Val287Met) NC_000014.9:75719750:G:A p.(Val287Met) NC_000014.9:75719750:G:A Identity +NM_000395.3:c.2545A>G NP_000386.1:p.Lys849Glu NC_000022.11:36938352:A:G p.(Lys849Glu) NC_000022.11:36938352:A:G p.(Lys849Glu) NC_000022.11:36938352:A:G Identity +NM_020928.2:c.3326G>A NP_065979.1:p.Arg1109His NC_000005.10:61543994:G:A p.(Arg1109His) NC_000005.10:61543994:G:A p.(Arg1109His) NC_000005.10:61543994:G:A Identity +NM_001378355.1:c.1682G>T NP_001365284.1:p.Gly561Val NC_000019.10:49835540:G:T p.(Gly561Val) NC_000019.10:49835540:G:T p.(Gly561Val) NC_000019.10:49835540:G:T Identity +NM_004415.4:c.5245A>G NP_004406.2:p.Ile1749Val NC_000006.12:7581434:A:G p.(Ile1749Val) NC_000006.12:7581434:A:G p.(Ile1749Val) NC_000006.12:7581434:A:G Identity +NM_001282279.2:c.23C>G NP_001269208.1:p.Ala8Gly NC_000017.11:81936791:G:C p.(Ala8Gly) NC_000017.11:81936791:G:C p.(Ala8Gly) NC_000017.11:81936791:G:C Identity +NM_000260.4:c.5873A>G NP_000251.3:p.Glu1958Gly NC_000011.10:77208445:A:G p.(Glu1958Gly) NC_000011.10:77208445:A:G p.(Glu1958Gly) NC_000011.10:77208445:A:G Identity +NM_015346.4:c.4369T>A NP_056161.2:p.Cys1457Ser NC_000014.9:67782782:A:T p.(Cys1457Ser) NC_000014.9:67782782:A:T p.(Cys1457Ser) NC_000014.9:67782782:A:T Identity +NM_000059.4:c.9508G>A NP_000050.3:p.Asp3170Asn NC_000013.11:32396903:G:A p.(Asp3170Asn) NC_000013.11:32396903:G:A p.(Asp3170Asn) NC_000013.11:32396903:G:A Identity +NM_001171.6:c.2131G>A NP_001162.5:p.Val711Met NC_000016.10:16182527:C:T p.(Val711Met) NC_000016.10:16182527:C:T p.(Val711Met) NC_000016.10:16182527:C:T Identity +NM_020184.4:c.1382T>C NP_064569.3:p.Met461Thr NC_000002.12:96762380:T:C p.(Met461Thr) NC_000002.12:96762380:T:C p.(Met461Thr) NC_000002.12:96762380:T:C Identity +NM_001004334.4:c.6172C>A NP_001004334.3:p.Pro2058Thr NC_000017.11:38327396:G:T p.(Pro2058Thr) NC_000017.11:38327396:G:T p.(Pro2058Thr) NC_000017.11:38327396:G:T Identity +NM_001284333.3:c.2179G>C NP_001271262.1:p.Glu727Gln NC_000017.11:62612424:G:C p.(Glu727Gln) NC_000017.11:62612424:G:C p.(Glu727Gln) NC_000017.11:62612424:G:C Identity +NM_001252043.2:c.2411C>T NP_001238972.1:p.Pro804Leu NC_000016.10:29987021:C:T p.(Pro804Leu) NC_000016.10:29987021:C:T p.(Pro804Leu) NC_000016.10:29987021:C:T Identity +NM_001303496.3:c.367C>G NP_001290425.1:p.Pro123Ala NC_000007.14:93135604:G:C p.(Pro123Ala) NC_000007.14:93135604:G:C p.(Pro123Ala) NC_000007.14:93135604:G:C Identity +NM_001306193.2:c.187A>G NP_001293122.1:p.Ile63Val NC_000023.11:132099485:T:C p.(Ile63Val) NC_000023.11:132099485:T:C p.(Ile63Val) NC_000023.11:132099485:T:C Identity +NM_001165966.2:c.1494G>T NP_001159438.1:p.Met498Ile NC_000017.11:6471182:C:A p.(Met498Ile) NC_000017.11:6471182:C:A p.(Met498Ile) NC_000017.11:6471182:C:A Identity +NM_004104.5:c.3292C>A NP_004095.4:p.His1098Asn NC_000017.11:82087184:G:T p.(His1098Asn) NC_000017.11:82087184:G:T p.(His1098Asn) NC_000017.11:82087184:G:T Identity +NM_006785.4:c.2073G>C NP_006776.1:p.Gln691His NC_000018.10:58747439:G:C p.(Gln691His) NC_000018.10:58747439:G:C p.(Gln691His) NC_000018.10:58747439:G:C Identity +NM_001378454.1:c.8677G>A NP_001365383.1:p.Ala2893Thr NC_000002.12:73490635:G:A p.(Ala2893Thr) NC_000002.12:73490635:G:A p.(Ala2893Thr) NC_000002.12:73490635:G:A Identity +NM_000546.6:c.157T>A NP_000537.3:p.Trp53Arg NC_000017.11:7676211:A:T p.(Trp53Arg) NC_000017.11:7676211:A:T p.(Trp53Arg) NC_000017.11:7676211:A:T Identity +NM_001365536.1:c.67A>C NP_001352465.1:p.Ile23Leu NC_000002.12:166311689:T:G p.(Ile23Leu) NC_000002.12:166311689:T:G p.(Ile23Leu) NC_000002.12:166311689:T:G Identity +NM_001276289.2:c.611C>G NP_001263218.1:p.Ala204Gly NC_000017.11:68525814:C:G p.(Ala204Gly) NC_000017.11:68525814:C:G p.(Ala204Gly) NC_000017.11:68525814:C:G Identity +NM_000555.3:c.805G>A NP_000546.2:p.Gly269Arg NC_000023.11:111401132:C:T p.(Gly269Arg) NC_000023.11:111401132:C:T p.(Gly269Arg) NC_000023.11:111401132:C:T Identity +NM_014510.3:c.13434G>T NP_055325.2:p.Glu4478Asp NC_000007.14:82908879:C:A p.(Glu4478Asp) NC_000007.14:82908879:C:A p.(Glu4478Asp) NC_000007.14:82908879:C:A Identity +NM_005559.4:c.3319G>T NP_005550.2:p.Gly1107Cys NC_000018.10:7013858:C:A p.(Gly1107Cys) NC_000018.10:7013858:C:A p.(Gly1107Cys) NC_000018.10:7013858:C:A Identity +NM_002820.3:c.422G>A NP_002811.1:p.Arg141Gln NC_000012.12:27963449:C:T p.(Arg141Gln) NC_000012.12:27963449:C:T p.(Arg141Gln) NC_000012.12:27963449:C:T Identity +NM_001330609.2:c.650G>C NP_001317538.1:p.Cys217Ser NC_000008.11:125073208:C:G p.(Cys217Ser) NC_000008.11:125073208:C:G p.(Cys217Ser) NC_000008.11:125073208:C:G Identity +NM_000528.4:c.2390G>T NP_000519.2:p.Arg797Leu NC_000019.10:12649181:C:A p.(Arg797Leu) NC_000019.10:12649181:C:A p.(Arg797Leu) NC_000019.10:12649181:C:A Identity +NM_001114331.3:c.1085G>A NP_001107803.1:p.Gly362Asp NC_000016.10:1453890:C:T p.(Gly362Asp) NC_000016.10:1453890:C:T p.(Gly362Asp) NC_000016.10:1453890:C:T Identity +NM_032043.3:c.3496T>G NP_114432.2:p.Leu1166Val NC_000017.11:61683549:A:C p.(Leu1166Val) NC_000017.11:61683549:A:C p.(Leu1166Val) NC_000017.11:61683549:A:C Identity +NM_006397.3:c.881A>G NP_006388.2:p.Glu294Gly NC_000019.10:12813446:A:G p.(Glu294Gly) NC_000019.10:12813446:A:G p.(Glu294Gly) NC_000019.10:12813446:A:G Identity +NM_001276479.2:c.14C>T NP_001263408.1:p.Thr5Ile NC_000019.10:5720118:G:A p.(Thr5Ile) NC_000019.10:5720118:G:A p.(Thr5Ile) NC_000019.10:5720118:G:A Identity +NM_001065.4:c.494T>C NP_001056.1:p.Val165Ala NC_000012.12:6333125:A:G p.(Val165Ala) NC_000012.12:6333125:A:G p.(Val165Ala) NC_000012.12:6333125:A:G Identity +NM_001320252.2:c.485G>A NP_001307181.1:p.Ser162Asn NC_000001.11:170552301:G:A p.(Ser162Asn) NC_000001.11:170552301:G:A p.(Ser162Asn) NC_000001.11:170552301:G:A Identity +NM_001320923.2:c.3337C>T NP_001307852.1:p.Arg1113Cys NC_000001.11:64835427:G:A p.(Arg1113Cys) NC_000001.11:64835427:G:A p.(Arg1113Cys) NC_000001.11:64835427:G:A Identity +NM_013386.5:c.918A>G NP_037518.3:p.Ile306Met NC_000001.11:108148290:T:C p.(Ile306Met) NC_000001.11:108148290:T:C p.(Ile306Met) NC_000001.11:108148290:T:C Identity +NM_001207014.3:c.631G>A NP_001193943.1:p.Asp211Asn NC_000011.10:75568738:G:A p.(Asp211Asn) NC_000011.10:75568738:G:A p.(Asp211Asn) NC_000011.10:75568738:G:A Identity +NM_001291285.3:c.14527A>T NP_001278214.1:p.Ser4843Cys NC_000004.12:125491345:A:T p.(Ser4843Cys) NC_000004.12:125491345:A:T p.(Ser4843Cys) NC_000004.12:125491345:A:T Identity +NM_001042529.3:c.382C>A NP_001035994.1:p.Pro128Thr NC_000017.11:42563003:C:A p.(Pro128Thr) NC_000017.11:42563003:C:A p.(Pro128Thr) NC_000017.11:42563003:C:A Identity +NM_001909.5:c.608A>T NP_001900.1:p.Tyr203Phe NC_000011.10:1757419:T:A p.(Tyr203Phe) NC_000011.10:1757419:T:A p.(Tyr203Phe) NC_000011.10:1757419:T:A Identity +NM_001276479.2:c.698T>C NP_001263408.1:p.Val233Ala NC_000019.10:5708383:A:G p.(Val233Ala) NC_000019.10:5708383:A:G p.(Val233Ala) NC_000019.10:5708383:A:G Identity +NM_000441.2:c.316G>A NP_000432.1:p.Ala106Thr NC_000007.14:107672148:G:A p.(Ala106Thr) NC_000007.14:107672148:G:A p.(Ala106Thr) NC_000007.14:107672148:G:A Identity +NM_001127198.5:c.2074G>A NP_001120670.1:p.Glu692Lys NC_000017.11:78117591:C:T p.(Glu692Lys) NC_000017.11:78117591:C:T p.(Glu692Lys) NC_000017.11:78117591:C:T Identity +NM_001317012.2:c.1755del NP_001303941.1:p.Asp586fs NC_000020.11:23369709:CC:C p.(Asp586ThrfsTer25) NC_000020.11:23369709:CC:C p.(Asp586ThrfsTer25) NC_000020.11:23369710:C: Analogous +NM_001384158.1:c.859A>G NP_001371087.1:p.Ser287Gly NC_000014.9:91887195:T:C p.(Ser287Gly) NC_000014.9:91887195:T:C p.(Ser287Gly) NC_000014.9:91887195:T:C Identity +NM_007055.4:c.2300G>T NP_008986.2:p.Cys767Phe NC_000010.11:78002255:C:A p.(Cys767Phe) NC_000010.11:78002255:C:A p.(Cys767Phe) NC_000010.11:78002255:C:A Identity +NM_000040.3:c.193G>A NP_000031.1:p.Asp65Asn NC_000011.10:116832776:G:A p.(Asp65Asn) NC_000011.10:116832776:G:A p.(Asp65Asn) NC_000011.10:116832776:G:A Identity +NM_000038.6:c.6029A>T NP_000029.2:p.Lys2010Ile NC_000005.10:112841622:A:T p.(Lys2010Ile) NC_000005.10:112841622:A:T p.(Lys2010Ile) NC_000005.10:112841622:A:T Identity +NM_001135745.2:c.226G>A NP_001129217.1:p.Glu76Lys NC_000002.12:201761767:C:T p.(Glu76Lys) NC_000002.12:201761767:C:T p.(Glu76Lys) NC_000002.12:201761767:C:T Identity +NM_002439.5:c.3269C>T NP_002430.3:p.Ser1090Leu NC_000005.10:80873253:C:T p.(Ser1090Leu) NC_000005.10:80873253:C:T p.(Ser1090Leu) NC_000005.10:80873253:C:T Identity +NM_001290184.2:c.1996G>A NP_001277113.1:p.Val666Ile NC_000001.11:160358196:G:A p.(Val666Ile) NC_000001.11:160358196:G:A p.(Val666Ile) NC_000001.11:160358196:G:A Identity +NM_001363823.2:c.1634G>T NP_001350752.1:p.Gly545Val NC_000002.12:32144956:G:T p.(Gly545Val) NC_000002.12:32144956:G:T p.(Gly545Val) NC_000002.12:32144956:G:T Identity +NM_001363711.2:c.1435C>G NP_001350640.1:p.Leu479Val NC_000015.10:45108185:G:C p.(Leu479Val) NC_000015.10:45108185:G:C p.(Leu479Val) NC_000015.10:45108185:G:C Identity +NM_001098209.2:c.673C>T NP_001091679.1:p.Arg225Cys NC_000003.12:41225510:C:T p.(Arg225Cys) NC_000003.12:41225510:C:T p.(Arg225Cys) NC_000003.12:41225510:C:T Identity +NM_001142301.1:c.1843C>G NP_001135773.1:p.Leu615Val NC_000008.11:93797455:C:G p.(Leu615Val) NC_000008.11:93797455:C:G p.(Leu615Val) NC_000008.11:93797455:C:G Identity +NM_001378183.1:c.1270G>A NP_001365112.1:p.Val424Met NC_000018.10:10800444:C:T p.(Val424Met) NC_000018.10:10800444:C:T p.(Val424Met) NC_000018.10:10800444:C:T Identity +NM_004975.4:c.1549T>C NP_004966.1:p.Ser517Pro NC_000020.11:49374010:A:G p.(Ser517Pro) NC_000020.11:49374010:A:G p.(Ser517Pro) NC_000020.11:49374010:A:G Identity +NM_130810.4:c.1094G>A NP_570722.2:p.Arg365Lys NC_000015.10:55432555:C:T p.(Arg365Lys) NC_000015.10:55432555:C:T p.(Arg365Lys) NC_000015.10:55432555:C:T Identity +NM_024753.5:c.1747A>G NP_079029.3:p.Ile583Val NC_000002.12:165917408:T:C p.(Ile583Val) NC_000002.12:165917408:T:C p.(Ile583Val) NC_000002.12:165917408:T:C Identity +NM_001167961.2:c.463G>A NP_001161433.1:p.Ala155Thr NC_000007.14:66638400:G:A p.(Ala155Thr) NC_000007.14:66638400:G:A p.(Ala155Thr) NC_000007.14:66638400:G:A Identity +NM_001168370.2:c.150G>C NP_001161842.2:p.Glu50Asp NC_000006.12:43052638:C:G p.(Glu50Asp) NC_000006.12:43052638:C:G p.(Glu50Asp) NC_000006.12:43052638:C:G Identity +NM_001256850.1:c.57931del NP_001243779.1:p.Ser19311fs NC_000002.12:178588870:TTT:TT p.(Ser19311ValfsTer5) NC_000002.12:178588870:TTT:TT p.(Ser19311ValfsTer5) NC_000002.12:178588870:T: Analogous +NM_001308301.1:c.1208A>G NP_001295230.1:p.Lys403Arg NC_000016.10:46710672:T:C p.(Lys403Arg) NC_000016.10:46710672:T:C p.(Lys403Arg) NC_000016.10:46710672:T:C Identity +NM_016373.4:c.66G>T NP_057457.1:p.Trp22Cys NC_000016.10:78099843:G:T p.(Trp22Cys) NC_000016.10:78099843:G:T p.(Trp22Cys) NC_000016.10:78099843:G:T Identity +NM_001371986.1:c.5182A>G NP_001358915.1:p.Met1728Val NC_000002.12:209917928:A:G p.(Met1728Val) NC_000002.12:209917928:A:G p.(Met1728Val) NC_000002.12:209917928:A:G Identity +NM_000282.4:c.2134T>C NP_000273.2:p.Cys712Arg NC_000013.11:100530112:T:C p.(Cys712Arg) NC_000013.11:100530112:T:C p.(Cys712Arg) NC_000013.11:100530112:T:C Identity +NM_007186.6:c.722G>A NP_009117.2:p.Arg241Gln NC_000020.11:35467425:G:A p.(Arg241Gln) NC_000020.11:35467425:G:A p.(Arg241Gln) NC_000020.11:35467425:G:A Identity +NM_001348729.2:c.5252C>T NP_001335658.1:p.Pro1751Leu NC_000002.12:8730786:G:A p.(Pro1751Leu) NC_000002.12:8730786:G:A p.(Pro1751Leu) NC_000002.12:8730786:G:A Identity +NM_001256959.2:c.2422A>T NP_001243888.2:p.Met808Leu NC_000001.11:11838618:A:T p.(Met808Leu) NC_000001.11:11838618:A:T p.(Met808Leu) NC_000001.11:11838618:A:T Identity +NM_138704.4:c.259C>A NP_619649.1:p.Leu87Met NC_000015.10:29269446:G:T p.(Leu87Met) NC_000015.10:29269446:G:T p.(Leu87Met) NC_000015.10:29269446:G:T Identity +NM_005101.4:c.175C>T NP_005092.1:p.Pro59Ser NC_000001.11:1014154:C:T p.(Pro59Ser) NC_000001.11:1014154:C:T p.(Pro59Ser) NC_000001.11:1014154:C:T Identity +NM_014510.3:c.8638A>T NP_055325.2:p.Thr2880Ser NC_000007.14:82952314:T:A p.(Thr2880Ser) NC_000007.14:82952314:T:A p.(Thr2880Ser) NC_000007.14:82952314:T:A Identity +NM_000545.8:c.79_80delinsCC NP_000536.6:p.Ile27Pro NC_000012.12:120978846:AT:CC p.(Ile27Pro) NC_000012.12:120978846:AT:CC p.(Ile27Pro) NC_000012.12:120978846:AT:CC Identity +NM_012193.4:c.1552_1555del NP_036325.2:p.Lys518fs NC_000011.10:86951200:TCTTT:T p.(Lys518GlufsTer9) NC_000011.10:86951200:TCTTT:T p.(Lys518GlufsTer9) NC_000011.10:86951200:TCTT: Analogous +NM_001372.4:c.3952G>A NP_001363.2:p.Ala1318Thr NC_000017.11:11689773:G:A p.(Ala1318Thr) NC_000017.11:11689773:G:A p.(Ala1318Thr) NC_000017.11:11689773:G:A Identity +NM_024928.5:c.434G>A NP_079204.2:p.Arg145Gln NC_000010.11:103900084:C:T p.(Arg145Gln) NC_000010.11:103900084:C:T p.(Arg145Gln) NC_000010.11:103900084:C:T Identity +NM_001308133.2:c.3949A>G NP_001295062.1:p.Lys1317Glu NC_000014.9:45176780:A:G p.(Lys1317Glu) NC_000014.9:45176780:A:G p.(Lys1317Glu) NC_000014.9:45176780:A:G Identity +NM_001572.5:c.319A>G NP_001563.2:p.Met107Val NC_000011.10:614871:T:C p.(Met107Val) NC_000011.10:614871:T:C p.(Met107Val) NC_000011.10:614871:T:C Identity +NM_032119.4:c.11836G>A NP_115495.3:p.Gly3946Arg NC_000005.10:90757056:G:A p.(Gly3946Arg) NC_000005.10:90757056:G:A p.(Gly3946Arg) NC_000005.10:90757056:G:A Identity +NM_000495.5:c.1727G>A NP_000486.1:p.Gly576Asp NC_000023.11:108597515:G:A p.(Gly576Asp) NC_000023.11:108597515:G:A p.(Gly576Asp) NC_000023.11:108597515:G:A Identity +NM_000732.6:c.275T>C NP_000723.1:p.Met92Thr NC_000011.10:118339905:A:G p.(Met92Thr) NC_000011.10:118339905:A:G p.(Met92Thr) NC_000011.10:118339905:A:G Identity +NM_005908.4:c.1610T>A NP_005899.3:p.Ile537Asn NC_000004.12:102657775:A:T p.(Ile537Asn) NC_000004.12:102657775:A:T p.(Ile537Asn) NC_000004.12:102657775:A:T Identity +NM_001942.4:c.1701G>T NP_001933.2:p.Leu567Phe NC_000018.10:31343462:G:T p.(Leu567Phe) NC_000018.10:31343462:G:T p.(Leu567Phe) NC_000018.10:31343462:G:T Identity +NM_001127892.2:c.2161T>G NP_001121364.1:p.Phe721Val NC_000016.10:51139769:A:C p.(Phe721Val) NC_000016.10:51139769:A:C p.(Phe721Val) NC_000016.10:51139769:A:C Identity +NM_001004334.4:c.4973G>T NP_001004334.3:p.Ser1658Ile NC_000017.11:38328595:C:A p.(Ser1658Ile) NC_000017.11:38328595:C:A p.(Ser1658Ile) NC_000017.11:38328595:C:A Identity +NM_001193537.3:c.320T>C NP_001180466.1:p.Ile107Thr NC_000011.10:85634261:T:C p.(Ile107Thr) NC_000011.10:85634261:T:C p.(Ile107Thr) NC_000011.10:85634261:T:C Identity +NM_003265.3:c.1007A>G NP_003256.1:p.Gln336Arg NC_000004.12:186082692:A:G p.(Gln336Arg) NC_000004.12:186082692:A:G p.(Gln336Arg) NC_000004.12:186082692:A:G Identity +NM_001130955.2:c.664C>T NP_001124427.2:p.Arg222Trp NC_000019.10:7444232:C:T p.(Arg222Trp) NC_000019.10:7444232:C:T p.(Arg222Trp) NC_000019.10:7444232:C:T Identity +NM_001163022.3:c.840T>G NP_001156494.1:p.Ser280Arg NC_000020.11:21162955:T:G p.(Ser280Arg) NC_000020.11:21162955:T:G p.(Ser280Arg) NC_000020.11:21162955:T:G Identity +NM_004525.3:c.2944G>A NP_004516.2:p.Gly982Ser NC_000002.12:169246950:C:T p.(Gly982Ser) NC_000002.12:169246950:C:T p.(Gly982Ser) NC_000002.12:169246950:C:T Identity +NM_000283.4:c.2197G>C NP_000274.3:p.Ala733Pro NC_000004.12:665257:G:C p.(Ala733Pro) NC_000004.12:665257:G:C p.(Ala733Pro) NC_000004.12:665257:G:C Identity +NM_001277115.2:c.4900G>A NP_001264044.1:p.Ala1634Thr NC_000007.14:21639020:G:A p.(Ala1634Thr) NC_000007.14:21639020:G:A p.(Ala1634Thr) NC_000007.14:21639020:G:A Identity +NM_152424.4:c.3109C>T NP_689637.3:p.Gln1037Ter NC_000023.11:64190177:G:A p.(Gln1037Ter) NC_000023.11:64190177:G:A p.(Gln1037Ter) NC_000023.11:64190177:G:A Identity +NM_000553.6:c.4282G>A NP_000544.2:p.Gly1428Arg NC_000008.11:31173084:G:A p.(Gly1428Arg) NC_000008.11:31173084:G:A p.(Gly1428Arg) NC_000008.11:31173084:G:A Identity +NM_001172416.1:c.143T>G NP_001165887.1:p.Leu48Arg NC_000002.12:232771219:A:C p.(Leu48Arg) NC_000002.12:232771219:A:C p.(Leu48Arg) NC_000002.12:232771219:A:C Identity +NM_000257.4:c.5630C>G NP_000248.2:p.Ala1877Gly NC_000014.9:23414031:G:C p.(Ala1877Gly) NC_000014.9:23414031:G:C p.(Ala1877Gly) NC_000014.9:23414031:G:C Identity +NM_000548.5:c.4974G>C NP_000539.2:p.Lys1658Asn NC_000016.10:2086855:G:C p.(Lys1658Asn) NC_000016.10:2086855:G:C p.(Lys1658Asn) NC_000016.10:2086855:G:C Identity +NM_015512.5:c.6913G>A NP_056327.4:p.Gly2305Ser NC_000003.12:52372980:G:A p.(Gly2305Ser) NC_000003.12:52372980:G:A p.(Gly2305Ser) NC_000003.12:52372980:G:A Identity +NM_001080522.2:c.781G>C NP_001073991.2:p.Ala261Pro NC_000004.12:15514769:G:C p.(Ala261Pro) NC_000004.12:15514769:G:C p.(Ala261Pro) NC_000004.12:15514769:G:C Identity +NM_001081676.2:c.1991C>T NP_001075145.1:p.Thr664Ile NC_000002.12:165139489:G:A p.(Thr664Ile) NC_000002.12:165139489:G:A p.(Thr664Ile) NC_000002.12:165139489:G:A Identity +NM_000548.5:c.671C>T NP_000539.2:p.Ala224Val NC_000016.10:2056665:C:T p.(Ala224Val) NC_000016.10:2056665:C:T p.(Ala224Val) NC_000016.10:2056665:C:T Identity +NM_017802.4:c.517T>C NP_060272.3:p.Cys173Arg NC_000007.14:727236:T:C p.(Cys173Arg) NC_000007.14:727236:T:C p.(Cys173Arg) NC_000007.14:727236:T:C Identity +NM_001244189.2:c.88G>A NP_001231118.1:p.Val30Met NC_000014.9:58428315:G:A p.(Val30Met) NC_000014.9:58428315:G:A p.(Val30Met) NC_000014.9:58428315:G:A Identity +NM_001165963.4:c.5029C>T NP_001159435.1:p.Leu1677Phe NC_000002.12:165992245:G:A p.(Leu1677Phe) NC_000002.12:165992245:G:A p.(Leu1677Phe) NC_000002.12:165992245:G:A Identity +NM_000051.4:c.3844C>G NP_000042.3:p.Leu1282Val NC_000011.10:108284323:C:G p.(Leu1282Val) NC_000011.10:108284323:C:G p.(Leu1282Val) NC_000011.10:108284323:C:G Identity +NM_001182.5:c.467A>G NP_001173.2:p.Tyr156Cys NC_000005.10:126582900:T:C p.(Tyr156Cys) NC_000005.10:126582900:T:C p.(Tyr156Cys) NC_000005.10:126582900:T:C Identity +NM_001293273.2:c.772A>G NP_001280202.1:p.Ile258Val NC_000003.12:183041710:T:C p.(Ile258Val) NC_000003.12:183041710:T:C p.(Ile258Val) NC_000003.12:183041710:T:C Identity +NM_031935.3:c.14672C>T NP_114141.2:p.Ala4891Val NC_000001.11:186151262:C:T p.(Ala4891Val) NC_000001.11:186151262:C:T p.(Ala4891Val) NC_000001.11:186151262:C:T Identity +NM_001244008.2:c.1636A>G NP_001230937.1:p.Lys546Glu NC_000002.12:240766962:T:C p.(Lys546Glu) NC_000002.12:240766962:T:C p.(Lys546Glu) NC_000002.12:240766962:T:C Identity +NM_000038.6:c.6949T>A NP_000029.2:p.Leu2317Ile NC_000005.10:112842542:T:A p.(Leu2317Ile) NC_000005.10:112842542:T:A p.(Leu2317Ile) NC_000005.10:112842542:T:A Identity +NM_001330504.2:c.991C>T NP_001317433.1:p.Arg331Trp NC_000016.10:5084809:C:T p.(Arg331Trp) NC_000016.10:5084809:C:T p.(Arg331Trp) NC_000016.10:5084809:C:T Identity +NM_001161504.2:c.559C>T NP_001154976.1:p.Arg187Cys NC_000001.11:18881826:G:A p.(Arg187Cys) NC_000001.11:18881826:G:A p.(Arg187Cys) NC_000001.11:18881826:G:A Identity +NM_020884.7:c.1669G>A NP_065935.4:p.Asp557Asn NC_000020.11:34989820:G:A p.(Asp557Asn) NC_000020.11:34989820:G:A p.(Asp557Asn) NC_000020.11:34989820:G:A Identity +NM_014845.6:c.1838A>G NP_055660.1:p.Asp613Gly NC_000006.12:109777008:A:G p.(Asp613Gly) NC_000006.12:109777008:A:G p.(Asp613Gly) NC_000006.12:109777008:A:G Identity +NM_001271888.2:c.198C>G NP_001258817.1:p.Asn66Lys NC_000015.10:78109253:G:C p.(Asn66Lys) NC_000015.10:78109253:G:C p.(Asn66Lys) NC_000015.10:78109253:G:C Identity +NM_005886.3:c.521G>C NP_005877.2:p.Trp174Ser NC_000016.10:57751943:G:C p.(Trp174Ser) NC_000016.10:57751943:G:C p.(Trp174Ser) NC_000016.10:57751943:G:C Identity +NM_005720.4:c.313G>T NP_005711.1:p.Ala105Ser NC_000007.14:99388181:G:T p.(Ala105Ser) NC_000007.14:99388181:G:T p.(Ala105Ser) NC_000007.14:99388181:G:T Identity +NM_001145252.3:c.343G>T NP_001138724.1:p.Val115Leu NC_000023.11:47628161:C:A p.(Val115Leu) NC_000023.11:47628161:C:A p.(Val115Leu) NC_000023.11:47628161:C:A Identity +NM_001367624.2:c.2057A>T NP_001354553.1:p.Glu686Val NC_000016.10:88429526:A:T p.(Glu686Val) NC_000016.10:88429526:A:T p.(Glu686Val) NC_000016.10:88429526:A:T Identity +NM_001320644.2:c.3196G>A NP_001307573.1:p.Glu1066Lys NC_000010.11:122599012:G:A p.(Glu1066Lys) NC_000010.11:122599012:G:A p.(Glu1066Lys) NC_000010.11:122599012:G:A Identity +NM_001145661.2:c.299G>A NP_001139133.1:p.Gly100Glu NC_000003.12:128486298:C:T p.(Gly100Glu) NC_000003.12:128486298:C:T p.(Gly100Glu) NC_000003.12:128486298:C:T Identity +NM_001561.6:c.13T>G NP_001552.2:p.Cys5Gly NC_000001.11:7939981:A:C p.(Cys5Gly) NC_000001.11:7939981:A:C p.(Cys5Gly) NC_000001.11:7939981:A:C Identity +NM_001105243.2:c.3213_3214insT NP_001098713.1:p.Glu1072Ter NC_000023.11:100296369::A p.(Glu1072Ter) NC_000023.11:100296368:C:A p.(Glu1072Ter) NC_000023.11:100296369:CG:A Identity +NM_020461.4:c.887G>T NP_065194.3:p.Cys296Phe NC_000022.11:50240221:C:A p.(Cys296Phe) NC_000022.11:50240221:C:A p.(Cys296Phe) NC_000022.11:50240221:C:A Identity +NM_138395.4:c.757C>A NP_612404.1:p.Leu253Met NC_000002.12:197706161:C:A p.(Leu253Met) NC_000002.12:197706161:C:A p.(Leu253Met) NC_000002.12:197706161:C:A Identity +NM_000109.4:c.7681C>A NP_000100.3:p.Gln2561Lys NC_000023.11:31679541:G:T p.(Gln2561Lys) NC_000023.11:31679541:G:T p.(Gln2561Lys) NC_000023.11:31679541:G:T Identity +NM_001189.4:c.278C>T NP_001180.1:p.Ser93Leu NC_000004.12:13544136:G:A p.(Ser93Leu) NC_000004.12:13544136:G:A p.(Ser93Leu) NC_000004.12:13544136:G:A Identity +NM_001347721.2:c.1915G>A NP_001334650.1:p.Val639Ile NC_000021.9:37512180:G:A p.(Val639Ile) NC_000021.9:37512180:G:A p.(Val639Ile) NC_000021.9:37512180:G:A Identity +NM_001354263.2:c.2836G>T NP_001341192.1:p.Asp946Tyr NC_000009.12:137811604:G:T p.(Asp946Tyr) NC_000009.12:137811604:G:T p.(Asp946Tyr) NC_000009.12:137811604:G:T Identity +NM_001270523.2:c.725G>A NP_001257452.1:p.Gly242Glu NC_000014.9:56801879:C:T p.(Gly242Glu) NC_000014.9:56801879:C:T p.(Gly242Glu) NC_000014.9:56801879:C:T Identity +NM_001171933.1:c.3086G>T NP_001165404.1:p.Arg1029Leu NC_000010.11:71815018:G:T p.(Arg1029Leu) NC_000010.11:71815018:G:T p.(Arg1029Leu) NC_000010.11:71815018:G:T Identity +NM_001256213.2:c.1141A>G NP_001243142.1:p.Thr381Ala NC_000019.10:41981991:T:C p.(Thr381Ala) NC_000019.10:41981991:T:C p.(Thr381Ala) NC_000019.10:41981991:T:C Identity +NM_000388.4:c.188A>G NP_000379.3:p.Tyr63Cys NC_000003.12:122257082:A:G p.(Tyr63Cys) NC_000003.12:122257082:A:G p.(Tyr63Cys) NC_000003.12:122257082:A:G Identity +NM_001165963.4:c.3688C>T NP_001159435.1:p.Leu1230Phe NC_000002.12:166013760:G:A p.(Leu1230Phe) NC_000002.12:166013760:G:A p.(Leu1230Phe) NC_000002.12:166013760:G:A Identity +NM_001385907.1:c.2591G>A NP_001372836.1:p.Arg864Gln NC_000009.12:32457302:C:T p.(Arg864Gln) NC_000009.12:32457302:C:T p.(Arg864Gln) NC_000009.12:32457302:C:T Identity +NM_014510.3:c.531T>A NP_055325.2:p.Asp177Glu NC_000007.14:83156109:A:T p.(Asp177Glu) NC_000007.14:83156109:A:T p.(Asp177Glu) NC_000007.14:83156109:A:T Identity +NM_005530.3:c.106T>G NP_005521.1:p.Leu36Val NC_000015.10:78157562:T:G p.(Leu36Val) NC_000015.10:78157562:T:G p.(Leu36Val) NC_000015.10:78157562:T:G Identity +NM_001346897.2:c.13G>C NP_001333826.1:p.Gly5Arg NC_000007.14:55019289:G:C p.(Gly5Arg) NC_000007.14:55019289:G:C p.(Gly5Arg) NC_000007.14:55019289:G:C Identity +NM_001385907.1:c.2219C>T NP_001372836.1:p.Thr740Ile NC_000009.12:32466401:G:A p.(Thr740Ile) NC_000009.12:32466401:G:A p.(Thr740Ile) NC_000009.12:32466401:G:A Identity +NM_012079.6:c.691_692delinsGC NP_036211.2:p.Lys231Ala NC_000008.11:144318153:TT:GC p.(Lys231Ala) NC_000008.11:144318153:TT:GC p.(Lys231Ala) NC_000008.11:144318153:TT:GC Identity +NM_001142800.2:c.3127G>A NP_001136272.1:p.Ala1043Thr NC_000006.12:64822687:C:T p.(Ala1043Thr) NC_000006.12:64822687:C:T p.(Ala1043Thr) NC_000006.12:64822687:C:T Identity +NM_000535.7:c.166C>A NP_000526.2:p.Leu56Ile NC_000007.14:6004055:G:T p.(Leu56Ile) NC_000007.14:6004055:G:T p.(Leu56Ile) NC_000007.14:6004055:G:T Identity +NM_001042437.2:c.107G>A NP_001035902.1:p.Arg36Lys NC_000002.12:85863391:C:T p.(Arg36Lys) NC_000002.12:85863391:C:T p.(Arg36Lys) NC_000002.12:85863391:C:T Identity +NM_012213.3:c.596G>A NP_036345.2:p.Arg199Gln NC_000016.10:83907053:G:A p.(Arg199Gln) NC_000016.10:83907053:G:A p.(Arg199Gln) NC_000016.10:83907053:G:A Identity +NM_000170.3:c.1702C>G NP_000161.2:p.Leu568Val NC_000009.12:6588405:G:C p.(Leu568Val) NC_000009.12:6588405:G:C p.(Leu568Val) NC_000009.12:6588405:G:C Identity +NM_001206927.2:c.6433_6434delinsAG NP_001193856.1:p.Gln2145Arg NC_000006.12:38863994:CA:AG p.(Gln2145Arg) NC_000006.12:38863994:CA:AG p.(Gln2145Arg) NC_000006.12:38863994:CA:AG Identity +NM_000156.6:c.428C>T NP_000147.1:p.Thr143Ile NC_000019.10:1399158:G:A p.(Thr143Ile) NC_000019.10:1399158:G:A p.(Thr143Ile) NC_000019.10:1399158:G:A Identity +NM_000553.6:c.812C>G NP_000544.2:p.Ala271Gly NC_000008.11:31076259:C:G p.(Ala271Gly) NC_000008.11:31076259:C:G p.(Ala271Gly) NC_000008.11:31076259:C:G Identity +NM_005993.5:c.653C>G NP_005984.3:p.Pro218Arg NC_000017.11:82781602:C:G p.(Pro218Arg) NC_000017.11:82781602:C:G p.(Pro218Arg) NC_000017.11:82781602:C:G Identity +NM_001080522.2:c.4759G>T NP_001073991.2:p.Asp1587Tyr NC_000004.12:15601320:G:T p.(Asp1587Tyr) NC_000004.12:15601320:G:T p.(Asp1587Tyr) NC_000004.12:15601320:G:T Identity +NM_001943.5:c.2020C>T NP_001934.2:p.Pro674Ser NC_000018.10:31542537:C:T p.(Pro674Ser) NC_000018.10:31542537:C:T p.(Pro674Ser) NC_000018.10:31542537:C:T Identity +NM_001008537.3:c.162A>T NP_001008537.1:p.Gln54His NC_000023.11:74744394:T:A p.(Gln54His) NC_000023.11:74744394:T:A p.(Gln54His) NC_000023.11:74744394:T:A Identity +NM_001243776.2:c.1394_1403del NP_001230705.1:p.Arg465fs NC_000011.10:95831163:GGAGAAAAAAGGAGAAAAAA:GGAGAAAAAA p.(Arg465IlefsTer5) NC_000011.10:95831163:GGAGAAAAAAGGAGAAAAAA:GGAGAAAAAA p.(Arg465IlefsTer5) NC_000011.10:95831173:GGAGAAAAAA: Analogous +NM_001844.5:c.3659T>G NP_001835.3:p.Met1220Arg NC_000012.12:47975543:A:C p.(Met1220Arg) NC_000012.12:47975543:A:C p.(Met1220Arg) NC_000012.12:47975543:A:C Identity +NM_001034194.2:c.1019G>T NP_001029366.1:p.Gly340Val NC_000004.12:121813909:G:T p.(Gly340Val) NC_000004.12:121813909:G:T p.(Gly340Val) NC_000004.12:121813909:G:T Identity +NM_001291902.2:c.1204G>A NP_001278831.1:p.Asp402Asn NC_000011.10:68416446:G:A p.(Asp402Asn) NC_000011.10:68416446:G:A p.(Asp402Asn) NC_000011.10:68416446:G:A Identity +NM_000944.5:c.241A>G NP_000935.1:p.Ile81Val NC_000004.12:101195933:T:C p.(Ile81Val) NC_000004.12:101195933:T:C p.(Ile81Val) NC_000004.12:101195933:T:C Identity +NM_015180.6:c.5015A>T NP_055995.4:p.His1672Leu NC_000014.9:64017721:A:T p.(His1672Leu) NC_000014.9:64017721:A:T p.(His1672Leu) NC_000014.9:64017721:A:T Identity +NM_003906.5:c.1957A>T NP_003897.2:p.Ser653Cys NC_000021.9:46275226:T:A p.(Ser653Cys) NC_000021.9:46275226:T:A p.(Ser653Cys) NC_000021.9:46275226:T:A Identity +NM_012463.4:c.1129G>A NP_036595.2:p.Glu377Lys NC_000012.12:123743874:G:A p.(Glu377Lys) NC_000012.12:123743874:G:A p.(Glu377Lys) NC_000012.12:123743874:G:A Identity +NM_001385640.1:c.644C>T NP_001372569.1:p.Ala215Val NC_000001.11:930188:C:T p.(Ala215Val) NC_000001.11:930188:C:T p.(Ala215Val) NC_000001.11:930188:C:T Identity +NM_000031.6:c.797A>G NP_000022.3:p.Asp266Gly NC_000009.12:113389441:T:C p.(Asp266Gly) NC_000009.12:113389441:T:C p.(Asp266Gly) NC_000009.12:113389441:T:C Identity +NM_001318520.2:c.3556C>T NP_001305449.1:p.Leu1186Phe NC_000018.10:70017535:G:A p.(Leu1186Phe) NC_000018.10:70017535:G:A p.(Leu1186Phe) NC_000018.10:70017535:G:A Identity +NM_001352018.2:c.212G>A NP_001338947.1:p.Arg71Gln NC_000016.10:910982:C:T p.(Arg71Gln) NC_000016.10:910982:C:T p.(Arg71Gln) NC_000016.10:910982:C:T Identity +NM_022168.4:c.332A>G NP_071451.2:p.His111Arg NC_000002.12:162317975:T:C p.(His111Arg) NC_000002.12:162317975:T:C p.(His111Arg) NC_000002.12:162317975:T:C Identity +NM_024675.4:c.1685G>A NP_078951.2:p.Gly562Glu NC_000016.10:23630468:C:T p.(Gly562Glu) NC_000016.10:23630468:C:T p.(Gly562Glu) NC_000016.10:23630468:C:T Identity +NM_000059.4:c.478G>A NP_000050.3:p.Val160Ile NC_000013.11:32326243:G:A p.(Val160Ile) NC_000013.11:32326243:G:A p.(Val160Ile) NC_000013.11:32326243:G:A Identity +NM_001372031.1:c.1553G>A NP_001358960.1:p.Ser518Asn NC_000011.10:112059922:G:A p.(Ser518Asn) NC_000011.10:112059922:G:A p.(Ser518Asn) NC_000011.10:112059922:G:A Identity +NM_004946.3:c.2521G>A NP_004937.1:p.Glu841Lys NC_000005.10:169761591:G:A p.(Glu841Lys) NC_000005.10:169761591:G:A p.(Glu841Lys) NC_000005.10:169761591:G:A Identity +NM_001122752.2:c.602C>G NP_001116224.1:p.Thr201Ser NC_000003.12:167792709:C:G p.(Thr201Ser) NC_000003.12:167792709:C:G p.(Thr201Ser) NC_000003.12:167792709:C:G Identity +NM_000018.4:c.247A>G NP_000009.1:p.Thr83Ala NC_000017.11:7220645:A:G p.(Thr83Ala) NC_000017.11:7220645:A:G p.(Thr83Ala) NC_000017.11:7220645:A:G Identity +NM_000742.4:c.577G>A NP_000733.2:p.Asp193Asn NC_000008.11:27463865:C:T p.(Asp193Asn) NC_000008.11:27463865:C:T p.(Asp193Asn) NC_000008.11:27463865:C:T Identity +NM_000180.4:c.2153C>G NP_000171.1:p.Ala718Gly NC_000017.11:8013141:C:G p.(Ala718Gly) NC_000017.11:8013141:C:G p.(Ala718Gly) NC_000017.11:8013141:C:G Identity +NM_004415.4:c.4847C>T NP_004406.2:p.Thr1616Ile NC_000006.12:7581036:C:T p.(Thr1616Ile) NC_000006.12:7581036:C:T p.(Thr1616Ile) NC_000006.12:7581036:C:T Identity +NM_001018113.3:c.1009G>A NP_001018123.1:p.Gly337Arg NC_000023.11:14859276:C:T p.(Gly337Arg) NC_000023.11:14859276:C:T p.(Gly337Arg) NC_000023.11:14859276:C:T Identity +NM_001035.3:c.14347G>T NP_001026.2:p.Val4783Leu NC_000001.11:237808948:G:T p.(Val4783Leu) NC_000001.11:237808948:G:T p.(Val4783Leu) NC_000001.11:237808948:G:T Identity +NM_024675.4:c.3395T>C NP_078951.2:p.Leu1132Ser NC_000016.10:23603624:A:G p.(Leu1132Ser) NC_000016.10:23603624:A:G p.(Leu1132Ser) NC_000016.10:23603624:A:G Identity +NM_001256850.1:c.84959_84962del NP_001243779.1:p.Gly28320fs NC_000002.12:178553014:CCTCC:C p.(Gly28320AspfsTer4) NC_000002.12:178553014:CCTCC:C p.(Gly28320AspfsTer4) NC_000002.12:178553014:CCTC: Analogous +NM_001909.5:c.1080G>C NP_001900.1:p.Gln360His NC_000011.10:1753661:C:G p.(Gln360His) NC_000011.10:1753661:C:G p.(Gln360His) NC_000011.10:1753661:C:G Identity +NM_018942.3:c.461G>A NP_061815.2:p.Gly154Asp NC_000004.12:8868278:C:T p.(Gly154Asp) NC_000004.12:8868278:C:T p.(Gly154Asp) NC_000004.12:8868278:C:T Identity +NM_000548.5:c.5122C>G NP_000539.2:p.Leu1708Val NC_000016.10:2088100:C:G p.(Leu1708Val) NC_000016.10:2088100:C:G p.(Leu1708Val) NC_000016.10:2088100:C:G Identity +NM_001160306.2:c.4118A>G NP_001153778.1:p.Lys1373Arg NC_000021.9:32631457:T:C p.(Lys1373Arg) NC_000021.9:32631457:T:C p.(Lys1373Arg) NC_000021.9:32631457:T:C Identity +NM_001141973.3:c.1174C>T NP_001135445.1:p.Arg392Cys NC_000001.11:16997025:G:A p.(Arg392Cys) NC_000001.11:16997025:G:A p.(Arg392Cys) NC_000001.11:16997025:G:A Identity +NM_000323.2:c.2372A>G NP_000314.1:p.Tyr791Cys NC_000010.11:43118459:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001034194.2:c.843G>C NP_001029366.1:p.Lys281Asn NC_000004.12:121813248:G:C p.(Lys281Asn) NC_000004.12:121813248:G:C p.(Lys281Asn) NC_000004.12:121813248:G:C Identity +NM_001377523.1:c.211C>G NP_001364452.1:p.Leu71Val NC_000014.9:21317828:C:G p.(Leu71Val) NC_000014.9:21317828:C:G p.(Leu71Val) NC_000014.9:21317828:C:G Identity +NM_001083908.2:c.1643T>G NP_001077377.1:p.Leu548Arg NC_000014.9:49633506:A:C p.(Leu548Arg) NC_000014.9:49633506:A:C p.(Leu548Arg) NC_000014.9:49633506:A:C Identity +NM_005216.5:c.752T>C NP_005207.3:p.Phe251Ser NC_000001.11:20654264:A:G p.(Phe251Ser) NC_000001.11:20654264:A:G p.(Phe251Ser) NC_000001.11:20654264:A:G Identity +NM_001321214.2:c.421C>T NP_001308143.1:p.Arg141Trp NC_000017.11:19343840:G:A p.(Arg141Trp) NC_000017.11:19343840:G:A p.(Arg141Trp) NC_000017.11:19343840:G:A Identity +NM_000076.2:c.301C>T NP_000067.1:p.Arg101Cys NC_000011.10:2885188:G:A p.(Arg101Cys) NC_000011.10:2885188:G:A p.(Arg101Cys) NC_000011.10:2885188:G:A Identity +NM_001127178.3:c.1657C>T NP_001120650.1:p.Leu553Phe NC_000004.12:523500:C:T p.(Leu553Phe) NC_000004.12:523500:C:T p.(Leu553Phe) NC_000004.12:523500:C:T Identity +NM_001278293.3:c.71G>A NP_001265222.1:p.Gly24Glu NC_000003.12:97768177:G:A p.(Gly24Glu) NC_000003.12:97768177:G:A p.(Gly24Glu) NC_000003.12:97768177:G:A Identity +NM_013334.4:c.578T>C NP_037466.3:p.Ile193Thr NC_000003.12:49722493:A:G p.(Ile193Thr) NC_000003.12:49722493:A:G p.(Ile193Thr) NC_000003.12:49722493:A:G Identity +NM_001379500.1:c.3536T>G NP_001366429.1:p.Met1179Arg NC_000021.9:45510103:T:G p.(Met1179Arg) NC_000021.9:45510103:T:G p.(Met1179Arg) NC_000021.9:45510103:T:G Identity +NM_014989.7:c.1487T>C NP_055804.2:p.Leu496Pro NC_000006.12:72182957:T:C p.(Leu496Pro) NC_000006.12:72182957:T:C p.(Leu496Pro) NC_000006.12:72182957:T:C Identity +NM_000378.6:c.1038_1039delinsAA NP_000369.4:p.His347Asn NC_000011.10:32399970:GC:TT p.(His347Asn) NC_000011.10:32399970:GC:TT p.(His347Asn) NC_000011.10:32399970:GC:TT Identity +NM_000111.3:c.137C>A NP_000102.1:p.Ser46Tyr NC_000007.14:107793875:G:T p.(Ser46Tyr) NC_000007.14:107793875:G:T p.(Ser46Tyr) NC_000007.14:107793875:G:T Identity +NM_000364.4:c.629C>G NP_000355.2:p.Thr210Ser NC_000001.11:201361993:G:C p.(Thr210Ser) NC_000001.11:201361993:G:C p.(Thr210Ser) NC_000001.11:201361993:G:C Identity +NM_001379141.1:c.656A>G NP_001366070.1:p.His219Arg NC_000018.10:44949995:A:G p.(His219Arg) NC_000018.10:44949995:A:G p.(His219Arg) NC_000018.10:44949995:A:G Identity +NM_005477.3:c.2864C>G NP_005468.1:p.Pro955Arg NC_000015.10:73323228:G:C p.(Pro955Arg) NC_000015.10:73323228:G:C p.(Pro955Arg) NC_000015.10:73323228:G:C Identity +NM_001290265.2:c.146A>G NP_001277194.1:p.Asp49Gly NC_000019.10:18884236:T:C p.(Asp49Gly) NC_000019.10:18884236:T:C p.(Asp49Gly) NC_000019.10:18884236:T:C Identity +NM_001042681.2:c.4A>G NP_001036146.1:p.Thr2Ala NC_000001.11:8656293:T:C p.(Thr2Ala) NC_000001.11:8656293:T:C p.(Thr2Ala) NC_000001.11:8656293:T:C Identity +NM_004370.6:c.3217G>A NP_004361.3:p.Glu1073Lys NC_000006.12:75156289:C:T p.(Glu1073Lys) NC_000006.12:75156289:C:T p.(Glu1073Lys) NC_000006.12:75156289:C:T Identity +NM_015164.4:c.541C>T NP_055979.2:p.Arg181Cys NC_000001.11:15719808:C:T p.(Arg181Cys) NC_000001.11:15719808:C:T p.(Arg181Cys) NC_000001.11:15719808:C:T Identity +NM_001303496.3:c.1786A>G NP_001290425.1:p.Thr596Ala NC_000007.14:93134185:T:C p.(Thr596Ala) NC_000007.14:93134185:T:C p.(Thr596Ala) NC_000007.14:93134185:T:C Identity +NM_001160306.2:c.4365C>G NP_001153778.1:p.Asp1455Glu NC_000021.9:32631210:G:C p.(Asp1455Glu) NC_000021.9:32631210:G:C p.(Asp1455Glu) NC_000021.9:32631210:G:C Identity +NM_000492.4:c.3676A>G NP_000483.3:p.Ile1226Val NC_000007.14:117627728:A:G p.(Ile1226Val) NC_000007.14:117627728:A:G p.(Ile1226Val) NC_000007.14:117627728:A:G Identity +NM_001127487.2:c.7424T>G NP_001120959.1:p.Val2475Gly NC_000007.14:128856882:T:G p.(Val2475Gly) NC_000007.14:128856882:T:G p.(Val2475Gly) NC_000007.14:128856882:T:G Identity +NM_001077416.2:c.1030G>A NP_001070884.2:p.Val344Met NC_000016.10:75540073:C:T p.(Val344Met) NC_000016.10:75540073:C:T p.(Val344Met) NC_000016.10:75540073:C:T Identity +NM_000323.2:c.2489G>A NP_000314.1:p.Gly830Glu NC_000010.11:43119626:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001257970.1:c.2201C>T NP_001244899.1:p.Thr734Ile NC_000017.11:80202401:C:T p.(Thr734Ile) NC_000017.11:80202401:C:T p.(Thr734Ile) NC_000017.11:80202401:C:T Identity +NM_001128617.3:c.2221G>A NP_001122089.1:p.Glu741Lys NC_000006.12:138907514:C:T p.(Glu741Lys) NC_000006.12:138907514:C:T p.(Glu741Lys) NC_000006.12:138907514:C:T Identity +NM_012469.4:c.2596C>T NP_036601.2:p.Arg866Cys NC_000020.11:64031966:C:T p.(Arg866Cys) NC_000020.11:64031966:C:T p.(Arg866Cys) NC_000020.11:64031966:C:T Identity +NM_006516.4:c.941G>A NP_006507.2:p.Gly314Asp NC_000001.11:42929240:C:T p.(Gly314Asp) NC_000001.11:42929240:C:T p.(Gly314Asp) NC_000001.11:42929240:C:T Identity +NM_005876.5:c.5598T>A NP_005867.3:p.Asp1866Glu NC_000002.12:219482815:T:A p.(Asp1866Glu) NC_000002.12:219482815:T:A p.(Asp1866Glu) NC_000002.12:219482815:T:A Identity +NM_001098398.2:c.2711C>T NP_001091868.1:p.Ser904Phe NC_000001.11:160293455:G:A p.(Ser904Phe) NC_000001.11:160293455:G:A p.(Ser904Phe) NC_000001.11:160293455:G:A Identity +NM_002299.4:c.318C>G NP_002290.2:p.Asp106Glu NC_000002.12:135836851:G:C p.(Asp106Glu) NC_000002.12:135836851:G:C p.(Asp106Glu) NC_000002.12:135836851:G:C Identity +NM_002900.3:c.1829G>C NP_002891.1:p.Gly610Ala NC_000010.11:47350312:G:C p.(Gly610Ala) NC_000010.11:47350312:G:C p.(Gly610Ala) NC_000010.11:47350312:G:C Identity +NM_001007098.3:c.35G>T NP_001007099.1:p.Arg12Leu NC_000001.11:52927430:G:T p.(Arg12Leu) NC_000001.11:52927430:G:T p.(Arg12Leu) NC_000001.11:52927430:G:T Identity +NM_001258392.3:c.109G>C NP_001245321.1:p.Val37Leu NC_000011.10:72434365:C:G p.(Val37Leu) NC_000011.10:72434365:C:G p.(Val37Leu) NC_000011.10:72434365:C:G Identity +NM_014014.5:c.4039T>C NP_054733.2:p.Phe1347Leu NC_000002.12:96285304:A:G p.(Phe1347Leu) NC_000002.12:96285304:A:G p.(Phe1347Leu) NC_000002.12:96285304:A:G Identity +NM_001377289.1:c.1337G>A NP_001364218.1:p.Gly446Asp NC_000006.12:70240731:C:T p.(Gly446Asp) NC_000006.12:70240731:C:T p.(Gly446Asp) NC_000006.12:70240731:C:T Identity +NM_018136.5:c.5572T>A NP_060606.3:p.Tyr1858Asn NC_000001.11:197103678:A:T p.(Tyr1858Asn) NC_000001.11:197103678:A:T p.(Tyr1858Asn) NC_000001.11:197103678:A:T Identity +NM_001005242.3:c.1019C>T NP_001005242.2:p.Thr340Ile NC_000012.12:32877860:G:A p.(Thr340Ile) NC_000012.12:32877860:G:A p.(Thr340Ile) NC_000012.12:32877860:G:A Identity +NM_000400.4:c.904G>A NP_000391.1:p.Asp302Asn NC_000019.10:45364030:C:T p.(Asp302Asn) NC_000019.10:45364030:C:T p.(Asp302Asn) NC_000019.10:45364030:C:T Identity +NM_001207000.1:c.181G>T NP_001193929.1:p.Val61Phe NC_000004.12:82429509:C:A p.(Val61Phe) NC_000004.12:82429509:C:A p.(Val61Phe) NC_000004.12:82429509:C:A Identity +NM_005045.4:c.8009T>C NP_005036.2:p.Met2670Thr NC_000007.14:103515294:A:G p.(Met2670Thr) NC_000007.14:103515294:A:G p.(Met2670Thr) NC_000007.14:103515294:A:G Identity +NM_001164507.2:c.5555T>C NP_001157979.2:p.Met1852Thr NC_000002.12:151663755:A:G p.(Met1852Thr) NC_000002.12:151663755:A:G p.(Met1852Thr) NC_000002.12:151663755:A:G Identity +NM_033071.5:c.1846G>A NP_149062.2:p.Glu616Lys NC_000006.12:152465364:C:T p.(Glu616Lys) NC_000006.12:152465364:C:T p.(Glu616Lys) NC_000006.12:152465364:C:T Identity +NM_014003.4:c.3520G>A NP_054722.2:p.Glu1174Lys NC_000016.10:72110997:G:A p.(Glu1174Lys) NC_000016.10:72110997:G:A p.(Glu1174Lys) NC_000016.10:72110997:G:A Identity +NM_002618.4:c.745C>T NP_002609.1:p.Leu249Phe NC_000002.12:61032070:C:T p.(Leu249Phe) NC_000002.12:61032070:C:T p.(Leu249Phe) NC_000002.12:61032070:C:T Identity +NM_013432.5:c.3058C>T NP_038460.4:p.Arg1020Cys NC_000008.11:144434837:G:A p.(Arg1020Cys) NC_000008.11:144434837:G:A p.(Arg1020Cys) NC_000008.11:144434837:G:A Identity +NM_139318.5:c.1807del NP_647479.2:p.Val603fs NC_000014.9:62802343:CC:C p.(Val603TrpfsTer5) NC_000014.9:62802343:CC:C p.(Val603TrpfsTer5) NC_000014.9:62802343:C: Analogous +NM_001320923.2:c.1708A>C NP_001307852.1:p.Met570Leu NC_000001.11:64850850:T:G p.(Met570Leu) NC_000001.11:64850850:T:G p.(Met570Leu) NC_000001.11:64850850:T:G Identity +NM_198586.3:c.5C>A NP_940988.2:p.Ala2Glu NC_000006.12:18122601:G:T p.(Ala2Glu) NC_000006.12:18122601:G:T p.(Ala2Glu) NC_000006.12:18122601:G:T Identity +NM_000833.5:c.4151C>T NP_000824.1:p.Ser1384Leu NC_000016.10:9763392:G:A p.(Ser1384Leu) NC_000016.10:9763392:G:A p.(Ser1384Leu) NC_000016.10:9763392:G:A Identity +NM_000087.5:c.1090C>G NP_000078.3:p.Pro364Ala NC_000004.12:47937391:G:C p.(Pro364Ala) NC_000004.12:47937391:G:C p.(Pro364Ala) NC_000004.12:47937391:G:C Identity +NM_144643.4:c.884T>C NP_653244.2:p.Ile295Thr NC_000004.12:128959762:A:G p.(Ile295Thr) NC_000004.12:128959762:A:G p.(Ile295Thr) NC_000004.12:128959762:A:G Identity +NM_007215.4:c.364A>G NP_009146.2:p.Arg122Gly NC_000017.11:64496604:T:C p.(Arg122Gly) NC_000017.11:64496604:T:C p.(Arg122Gly) NC_000017.11:64496604:T:C Identity +NM_001346897.2:c.1403A>C NP_001333826.1:p.Glu468Ala NC_000007.14:55161537:A:C p.(Glu468Ala) NC_000007.14:55161537:A:C p.(Glu468Ala) NC_000007.14:55161537:A:C Identity +NM_005557.4:c.113G>A NP_005548.2:p.Gly38Glu NC_000017.11:41612575:C:T p.(Gly38Glu) NC_000017.11:41612575:C:T p.(Gly38Glu) NC_000017.11:41612575:C:T Identity +NM_001303256.3:c.1835G>A NP_001290185.1:p.Arg612His NC_000022.11:30935138:C:T p.(Arg612His) NC_000022.11:30935138:C:T p.(Arg612His) NC_000022.11:30935138:C:T Identity +NM_001040108.2:c.1490T>C NP_001035197.1:p.Leu497Ser NC_000014.9:75048165:A:G p.(Leu497Ser) NC_000014.9:75048165:A:G p.(Leu497Ser) NC_000014.9:75048165:A:G Identity +NM_000222.3:c.2882G>A NP_000213.1:p.Gly961Asp NC_000004.12:54738507:G:A p.(Gly961Asp) NC_000004.12:54738507:G:A p.(Gly961Asp) NC_000004.12:54738507:G:A Identity +NM_001286130.2:c.1027C>T NP_001273059.1:p.Arg343Trp NC_000016.10:57949428:G:A p.(Arg343Trp) NC_000016.10:57949428:G:A p.(Arg343Trp) NC_000016.10:57949428:G:A Identity +NM_006662.3:c.5321C>T NP_006653.2:p.Ser1774Leu NC_000016.10:30724744:C:T p.(Ser1774Leu) NC_000016.10:30724744:C:T p.(Ser1774Leu) NC_000016.10:30724744:C:T Identity +NM_006343.3:c.1376T>G NP_006334.2:p.Val459Gly NC_000002.12:111994329:T:G p.(Val459Gly) NC_000002.12:111994329:T:G p.(Val459Gly) NC_000002.12:111994329:T:G Identity +NM_001174116.3:c.2255A>G NP_001167587.1:p.His752Arg NC_000015.10:51536224:T:C p.(His752Arg) NC_000015.10:51536224:T:C p.(His752Arg) NC_000015.10:51536224:T:C Identity +NM_001322042.2:c.1937C>G NP_001308971.2:p.Pro646Arg NC_000008.11:6477594:C:G p.(Pro646Arg) NC_000008.11:6477594:C:G p.(Pro646Arg) NC_000008.11:6477594:C:G Identity +NM_001290307.3:c.1159A>C NP_001277236.1:p.Met387Leu NC_000005.10:138887504:A:C p.(Met387Leu) NC_000005.10:138887504:A:C p.(Met387Leu) NC_000005.10:138887504:A:C Identity +NM_000059.4:c.3086T>C NP_000050.3:p.Met1029Thr NC_000013.11:32337440:T:C p.(Met1029Thr) NC_000013.11:32337440:T:C p.(Met1029Thr) NC_000013.11:32337440:T:C Identity +NM_001257133.2:c.160T>C NP_001244062.1:p.Ser54Pro NC_000012.12:50120202:T:C p.(Ser54Pro) NC_000012.12:50120202:T:C p.(Ser54Pro) NC_000012.12:50120202:T:C Identity +NM_001289164.3:c.1699A>C NP_001276093.1:p.Lys567Gln NC_000002.12:74533935:T:G p.(Lys567Gln) NC_000002.12:74533935:T:G p.(Lys567Gln) NC_000002.12:74533935:T:G Identity +NM_001018088.3:c.3326T>C NP_001018098.1:p.Ile1109Thr NC_000015.10:61963839:A:G p.(Ile1109Thr) NC_000015.10:61963839:A:G p.(Ile1109Thr) NC_000015.10:61963839:A:G Identity +NM_001302959.2:c.287T>G NP_001289888.1:p.Leu96Arg NC_000011.10:67489450:T:G p.(Leu96Arg) NC_000011.10:67489450:T:G p.(Leu96Arg) NC_000011.10:67489450:T:G Identity +NM_001035507.3:c.1525A>G NP_001030584.1:p.Ile509Val NC_000002.12:27056781:A:G p.(Ile509Val) NC_000002.12:27056781:A:G p.(Ile509Val) NC_000002.12:27056781:A:G Identity +NM_000179.3:c.1657A>T NP_000170.1:p.Thr553Ser NC_000002.12:47799639:A:T p.(Thr553Ser) NC_000002.12:47799639:A:T p.(Thr553Ser) NC_000002.12:47799639:A:T Identity +NM_000996.4:c.77C>T NP_000987.2:p.Ala26Val NC_000003.12:197951223:C:T p.(Ala26Val) NC_000003.12:197951223:C:T p.(Ala26Val) NC_000003.12:197951223:C:T Identity +NM_001291285.3:c.4823C>T NP_001278214.1:p.Pro1608Leu NC_000004.12:125321233:C:T p.(Pro1608Leu) NC_000004.12:125321233:C:T p.(Pro1608Leu) NC_000004.12:125321233:C:T Identity +NM_004656.4:c.643G>C NP_004647.1:p.Gly215Arg NC_000003.12:52406844:C:G p.(Gly215Arg) NC_000003.12:52406844:C:G p.(Gly215Arg) NC_000003.12:52406844:C:G Identity +NM_001261406.2:c.1385G>A NP_001248335.1:p.Arg462Lys NC_000009.12:13206004:C:T p.(Arg462Lys) NC_000009.12:13206004:C:T p.(Arg462Lys) NC_000009.12:13206004:C:T Identity +NM_000098.3:c.413A>G NP_000089.1:p.Asn138Ser NC_000001.11:53210086:A:G p.(Asn138Ser) NC_000001.11:53210086:A:G p.(Asn138Ser) NC_000001.11:53210086:A:G Identity +NM_001110556.2:c.6935A>G NP_001104026.1:p.Asn2312Ser NC_000023.11:154351668:T:C p.(Asn2312Ser) NC_000023.11:154351668:T:C p.(Asn2312Ser) NC_000023.11:154351668:T:C Identity +NM_000350.3:c.5818C>A NP_000341.2:p.Leu1940Ile NC_000001.11:94008767:G:T p.(Leu1940Ile) NC_000001.11:94008767:G:T p.(Leu1940Ile) NC_000001.11:94008767:G:T Identity +NM_003906.5:c.3773G>A NP_003897.2:p.Arg1258His NC_000021.9:46256947:C:T p.(Arg1258His) NC_000021.9:46256947:C:T p.(Arg1258His) NC_000021.9:46256947:C:T Identity +NM_001080467.3:c.1894G>A NP_001073936.1:p.Val632Ile NC_000018.10:49937255:C:T p.(Val632Ile) NC_000018.10:49937255:C:T p.(Val632Ile) NC_000018.10:49937255:C:T Identity +NM_001369346.1:c.3838G>A NP_001356275.1:p.Asp1280Asn NC_000002.12:25742324:C:T p.(Asp1280Asn) NC_000002.12:25742324:C:T p.(Asp1280Asn) NC_000002.12:25742324:C:T Identity +NM_001310332.2:c.1813A>T NP_001297261.1:p.Thr605Ser NC_000014.9:24155291:A:T p.(Thr605Ser) NC_000014.9:24155291:A:T p.(Thr605Ser) NC_000014.9:24155291:A:T Identity +NM_001079802.2:c.989A>G NP_001073270.1:p.Asp330Gly NC_000009.12:105618036:A:G p.(Asp330Gly) NC_000009.12:105618036:A:G p.(Asp330Gly) NC_000009.12:105618036:A:G Identity +NM_001317195.3:c.1214C>T NP_001304124.1:p.Thr405Ile NC_000016.10:68684613:C:T p.(Thr405Ile) NC_000016.10:68684613:C:T p.(Thr405Ile) NC_000016.10:68684613:C:T Identity +NM_001282656.2:c.428A>T NP_001269585.1:p.Tyr143Phe NC_000011.10:9478446:A:T p.(Tyr143Phe) NC_000011.10:9478446:A:T p.(Tyr143Phe) NC_000011.10:9478446:A:T Identity +NM_001123226.2:c.634C>T NP_001116698.1:p.Arg212Cys NC_000006.12:73473462:C:T p.(Arg212Cys) NC_000006.12:73473462:C:T p.(Arg212Cys) NC_000006.12:73473462:C:T Identity +NM_015346.4:c.5636C>T NP_056161.2:p.Pro1879Leu NC_000014.9:67768533:G:A p.(Pro1879Leu) NC_000014.9:67768533:G:A p.(Pro1879Leu) NC_000014.9:67768533:G:A Identity +NM_001371986.1:c.1135C>T NP_001358915.1:p.Pro379Ser NC_000002.12:209813775:C:T p.(Pro379Ser) NC_000002.12:209813775:C:T p.(Pro379Ser) NC_000002.12:209813775:C:T Identity +NM_024753.5:c.419G>A NP_079029.3:p.Gly140Asp NC_000002.12:165945533:C:T p.(Gly140Asp) NC_000002.12:165945533:C:T p.(Gly140Asp) NC_000002.12:165945533:C:T Identity +NM_001375291.1:c.3245A>G NP_001362220.1:p.Asn1082Ser NC_000009.12:95972995:A:G p.(Asn1082Ser) NC_000009.12:95972995:A:G p.(Asn1082Ser) NC_000009.12:95972995:A:G Identity +NM_003320.5:c.1379A>C NP_003311.2:p.Asn460Thr NC_000011.10:8100599:A:C p.(Asn460Thr) NC_000011.10:8100599:A:C p.(Asn460Thr) NC_000011.10:8100599:A:C Identity +NM_017890.5:c.9040G>T NP_060360.3:p.Gly3014Cys NC_000008.11:99820092:G:T p.(Gly3014Cys) NC_000008.11:99820092:G:T p.(Gly3014Cys) NC_000008.11:99820092:G:T Identity +NM_001285549.2:c.5701A>G NP_001272478.1:p.Ile1901Val NC_000002.12:206310234:A:G p.(Ile1901Val) NC_000002.12:206310234:A:G p.(Ile1901Val) NC_000002.12:206310234:A:G Identity +NM_001164144.3:c.692C>T NP_001157616.1:p.Ser231Phe NC_000013.11:114324533:C:T p.(Ser231Phe) NC_000013.11:114324533:C:T p.(Ser231Phe) NC_000013.11:114324533:C:T Identity +NM_001261406.2:c.1175C>G NP_001248335.1:p.Ala392Gly NC_000009.12:13217205:G:C p.(Ala392Gly) NC_000009.12:13217205:G:C p.(Ala392Gly) NC_000009.12:13217205:G:C Identity +NM_001080463.2:c.4669G>A NP_001073932.1:p.Asp1557Asn NC_000011.10:103165954:G:A p.(Asp1557Asn) NC_000011.10:103165954:G:A p.(Asp1557Asn) NC_000011.10:103165954:G:A Identity +NM_001290309.3:c.2276A>G NP_001277238.1:p.Lys759Arg NC_000005.10:138933952:A:G p.(Lys759Arg) NC_000005.10:138933952:A:G p.(Lys759Arg) NC_000005.10:138933952:A:G Identity +NM_006231.4:c.4679A>G NP_006222.2:p.Asp1560Gly NC_000012.12:132642868:T:C p.(Asp1560Gly) NC_000012.12:132642868:T:C p.(Asp1560Gly) NC_000012.12:132642868:T:C Identity +NM_018942.3:c.761G>C NP_061815.2:p.Arg254Pro NC_000004.12:8867978:C:G p.(Arg254Pro) NC_000004.12:8867978:C:G p.(Arg254Pro) NC_000004.12:8867978:C:G Identity +NM_001304482.2:c.2156G>A NP_001291411.1:p.Ser719Asn NC_000003.12:47410331:G:A p.(Ser719Asn) NC_000003.12:47410331:G:A p.(Ser719Asn) NC_000003.12:47410331:G:A Identity +NM_001257281.2:c.311G>A NP_001244210.1:p.Arg104Lys NC_000002.12:232030024:G:A p.(Arg104Lys) NC_000002.12:232030024:G:A p.(Arg104Lys) NC_000002.12:232030024:G:A Identity +NM_001304482.2:c.716C>T NP_001291411.1:p.Ala239Val NC_000003.12:47407786:C:T p.(Ala239Val) NC_000003.12:47407786:C:T p.(Ala239Val) NC_000003.12:47407786:C:T Identity +NM_032119.4:c.9703G>A NP_115495.3:p.Val3235Met NC_000005.10:90721013:G:A p.(Val3235Met) NC_000005.10:90721013:G:A p.(Val3235Met) NC_000005.10:90721013:G:A Identity +NM_001128844.3:c.3358G>T NP_001122316.1:p.Gly1120Cys NC_000019.10:11027925:G:T p.(Gly1120Cys) NC_000019.10:11027925:G:T p.(Gly1120Cys) NC_000019.10:11027925:G:T Identity +NM_001114636.2:c.829C>G NP_001108108.1:p.His277Asp NC_000002.12:58163035:G:C p.(His277Asp) NC_000002.12:58163035:G:C p.(His277Asp) NC_000002.12:58163035:G:C Identity +NM_001184880.2:c.2250C>A NP_001171809.1:p.Asp750Glu NC_000023.11:100403561:G:T p.(Asp750Glu) NC_000023.11:100403561:G:T p.(Asp750Glu) NC_000023.11:100403561:G:T Identity +NM_001201459.2:c.1337A>G NP_001188388.1:p.Glu446Gly NC_000002.12:27377647:T:C p.(Glu446Gly) NC_000002.12:27377647:T:C p.(Glu446Gly) NC_000002.12:27377647:T:C Identity +NM_001184.4:c.139G>C NP_001175.2:p.Asp47His NC_000003.12:142568074:C:G p.(Asp47His) NC_000003.12:142568074:C:G p.(Asp47His) NC_000003.12:142568074:C:G Identity +NM_001024688.3:c.1802A>G NP_001019859.1:p.Lys601Arg NC_000008.11:89946161:T:C p.(Lys601Arg) NC_000008.11:89946161:T:C p.(Lys601Arg) NC_000008.11:89946161:T:C Identity +NM_001363656.2:c.364G>A NP_001350585.1:p.Ala122Thr NC_000019.10:52215871:G:A p.(Ala122Thr) NC_000019.10:52215871:G:A p.(Ala122Thr) NC_000019.10:52215871:G:A Identity +NM_001174146.2:c.608G>A NP_001167617.1:p.Gly203Asp NC_000009.12:126693189:G:A p.(Gly203Asp) NC_000009.12:126693189:G:A p.(Gly203Asp) NC_000009.12:126693189:G:A Identity +NM_024675.4:c.3148C>T NP_078951.2:p.His1050Tyr NC_000016.10:23614056:G:A p.(His1050Tyr) NC_000016.10:23614056:G:A p.(His1050Tyr) NC_000016.10:23614056:G:A Identity +NM_080605.4:c.227T>G NP_542172.2:p.Ile76Ser NC_000001.11:1232504:T:G p.(Ile76Ser) NC_000001.11:1232504:T:G p.(Ile76Ser) NC_000001.11:1232504:T:G Identity +NM_145046.5:c.728G>A NP_659483.2:p.Trp243Ter NC_000019.10:16482735:C:T p.(Trp243Ter) NC_000019.10:16482735:C:T p.(Trp243Ter) NC_000019.10:16482735:C:T Identity +NM_001289395.2:c.1348G>T NP_001276324.1:p.Val450Leu NC_000006.12:35498448:C:A p.(Val450Leu) NC_000006.12:35498448:C:A p.(Val450Leu) NC_000006.12:35498448:C:A Identity +NM_000323.2:c.2479C>G NP_000314.1:p.Leu827Val NC_000010.11:43119616:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000135.4:c.2089G>C NP_000126.2:p.Val697Leu NC_000016.10:89771739:C:G p.(Val697Leu) NC_000016.10:89771739:C:G p.(Val697Leu) NC_000016.10:89771739:C:G Identity +NM_000251.3:c.1507C>A NP_000242.1:p.Leu503Ile NC_000002.12:47463150:C:A p.(Leu503Ile) NC_000002.12:47463150:C:A p.(Leu503Ile) NC_000002.12:47463150:C:A Identity +NM_173354.5:c.200A>G NP_775490.2:p.Asn67Ser NC_000021.9:43425479:T:C p.(Asn67Ser) NC_000021.9:43425479:T:C p.(Asn67Ser) NC_000021.9:43425479:T:C Identity +NM_001040108.2:c.97A>G NP_001035197.1:p.Ser33Gly NC_000014.9:75049558:T:C p.(Ser33Gly) NC_000014.9:75049558:T:C p.(Ser33Gly) NC_000014.9:75049558:T:C Identity +NM_001184.4:c.3611A>T NP_001175.2:p.Asp1204Val NC_000003.12:142538595:T:A p.(Asp1204Val) NC_000003.12:142538595:T:A p.(Asp1204Val) NC_000003.12:142538595:T:A Identity +NM_198578.4:c.7382C>T NP_940980.4:p.Ala2461Val NC_000012.12:40365041:C:T p.(Ala2461Val) NC_000012.12:40365041:C:T p.(Ala2461Val) NC_000012.12:40365041:C:T Identity +NM_001377273.1:c.1867G>T NP_001364202.1:p.Glu623Ter NC_000012.12:21887869:C:A p.(Glu623Ter) NC_000012.12:21887869:C:A p.(Glu623Ter) NC_000012.12:21887869:C:A Identity +NM_001032282.4:c.868G>A NP_001027453.1:p.Val290Ile NC_000008.11:102651430:C:T p.(Val290Ile) NC_000008.11:102651430:C:T p.(Val290Ile) NC_000008.11:102651430:C:T Identity +NM_001130438.3:c.5944G>T NP_001123910.1:p.Ala1982Ser NC_000009.12:128624438:G:T p.(Ala1982Ser) NC_000009.12:128624438:G:T p.(Ala1982Ser) NC_000009.12:128624438:G:T Identity +NM_001199981.2:c.1238C>T NP_001186910.1:p.Pro413Leu NC_000002.12:206138530:G:A p.(Pro413Leu) NC_000002.12:206138530:G:A p.(Pro413Leu) NC_000002.12:206138530:G:A Identity +NM_001114331.3:c.1958G>T NP_001107803.1:p.Gly653Val NC_000016.10:1447697:C:A p.(Gly653Val) NC_000016.10:1447697:C:A p.(Gly653Val) NC_000016.10:1447697:C:A Identity +NM_001257281.2:c.1073G>T NP_001244210.1:p.Gly358Val NC_000002.12:232163580:G:T p.(Gly358Val) NC_000002.12:232163580:G:T p.(Gly358Val) NC_000002.12:232163580:G:T Identity +NM_000087.5:c.90G>A NP_000078.3:p.Met30Ile NC_000004.12:47952599:C:T p.(Met30Ile) NC_000004.12:47952599:C:T p.(Met30Ile) NC_000004.12:47952599:C:T Identity +NM_003632.3:c.2833G>A NP_003623.1:p.Gly945Ser NC_000017.11:42693376:G:A p.(Gly945Ser) NC_000017.11:42693376:G:A p.(Gly945Ser) NC_000017.11:42693376:G:A Identity +NM_001193644.1:c.181G>A NP_001180573.1:p.Asp61Asn NC_000001.11:160283108:C:T p.(Asp61Asn) NC_000001.11:160283108:C:T p.(Asp61Asn) NC_000001.11:160283108:C:T Identity +NM_001197104.2:c.8233A>G NP_001184033.1:p.Lys2745Glu NC_000011.10:118504124:A:G p.(Lys2745Glu) NC_000011.10:118504124:A:G p.(Lys2745Glu) NC_000011.10:118504124:A:G Identity +NM_001160227.2:c.4325T>C NP_001153699.1:p.Phe1442Ser NC_000015.10:44596191:A:G p.(Phe1442Ser) NC_000015.10:44596191:A:G p.(Phe1442Ser) NC_000015.10:44596191:A:G Identity +NM_001134477.3:c.89A>T NP_001127949.1:p.Tyr30Phe NC_000016.10:14627160:T:A p.(Tyr30Phe) NC_000016.10:14627160:T:A p.(Tyr30Phe) NC_000016.10:14627160:T:A Identity +NM_015295.3:c.5044A>G NP_056110.2:p.Thr1682Ala NC_000018.10:2771609:A:G p.(Thr1682Ala) NC_000018.10:2771609:A:G p.(Thr1682Ala) NC_000018.10:2771609:A:G Identity +NM_001135239.2:c.117C>G NP_001128711.1:p.Ile39Met NC_000011.10:18396958:C:G p.(Ile39Met) NC_000011.10:18396958:C:G p.(Ile39Met) NC_000011.10:18396958:C:G Identity +NM_001195227.2:c.2755C>G NP_001182156.1:p.Arg919Gly NC_000019.10:49210266:C:G p.(Arg919Gly) NC_000019.10:49210266:C:G p.(Arg919Gly) NC_000019.10:49210266:C:G Identity +NM_133459.4:c.602C>T NP_597716.1:p.Thr201Ile NC_000018.10:59454902:G:A p.(Thr201Ile) NC_000018.10:59454902:G:A p.(Thr201Ile) NC_000018.10:59454902:G:A Identity +NM_020987.5:c.7532A>G NP_066267.2:p.Lys2511Arg NC_000010.11:60073348:T:C p.(Lys2511Arg) NC_000010.11:60073348:T:C p.(Lys2511Arg) NC_000010.11:60073348:T:C Identity +NM_001365951.3:c.1693C>T NP_001352880.1:p.Arg565Trp NC_000001.11:10295681:C:T p.(Arg565Trp) NC_000001.11:10295681:C:T p.(Arg565Trp) NC_000001.11:10295681:C:T Identity +NM_003366.4:c.1314G>A NP_003357.2:p.Met438Ile NC_000016.10:21983122:G:A p.(Met438Ile) NC_000016.10:21983122:G:A p.(Met438Ile) NC_000016.10:21983122:G:A Identity +NM_145290.4:c.784T>C NP_660333.2:p.Phe262Leu NC_000004.12:22442785:A:G p.(Phe262Leu) NC_000004.12:22442785:A:G p.(Phe262Leu) NC_000004.12:22442785:A:G Identity +NM_001077397.1:c.826G>A NP_001070865.1:p.Ala276Thr NC_000001.11:234608668:C:T p.(Ala276Thr) NC_000001.11:234608668:C:T p.(Ala276Thr) NC_000001.11:234608668:C:T Identity +NM_001371986.1:c.7052A>G NP_001358915.1:p.Asp2351Gly NC_000002.12:209945051:A:G p.(Asp2351Gly) NC_000002.12:209945051:A:G p.(Asp2351Gly) NC_000002.12:209945051:A:G Identity +NM_000053.4:c.3304A>T NP_000044.2:p.Ile1102Phe NC_000013.11:51942493:T:A p.(Ile1102Phe) NC_000013.11:51942493:T:A p.(Ile1102Phe) NC_000013.11:51942493:T:A Identity +NM_001282782.2:c.799G>A NP_001269711.1:p.Gly267Arg NC_000022.11:46356880:G:A p.(Gly267Arg) NC_000022.11:46356880:G:A p.(Gly267Arg) NC_000022.11:46356880:G:A Identity +NM_006662.3:c.8510G>A NP_006653.2:p.Gly2837Asp NC_000016.10:30738549:G:A p.(Gly2837Asp) NC_000016.10:30738549:G:A p.(Gly2837Asp) NC_000016.10:30738549:G:A Identity +NM_001103.4:c.1940A>G NP_001094.1:p.Asn647Ser NC_000001.11:236754046:A:G p.(Asn647Ser) NC_000001.11:236754046:A:G p.(Asn647Ser) NC_000001.11:236754046:A:G Identity +NM_001014797.3:c.441A>T NP_001014797.1:p.Glu147Asp NC_000010.11:77403960:T:A p.(Glu147Asp) NC_000010.11:77403960:T:A p.(Glu147Asp) NC_000010.11:77403960:T:A Identity +NM_001136193.2:c.62C>T NP_001129665.1:p.Ala21Val NC_000002.12:206766754:C:T p.(Ala21Val) NC_000002.12:206766754:C:T p.(Ala21Val) NC_000002.12:206766754:C:T Identity +NM_016204.4:c.10G>A NP_057288.1:p.Gly4Arg NC_000010.11:47322677:G:A p.(Gly4Arg) NC_000010.11:47322677:G:A p.(Gly4Arg) NC_000010.11:47322677:G:A Identity +NM_001290309.3:c.2369C>A NP_001277238.1:p.Pro790Gln NC_000005.10:138934045:C:A p.(Pro790Gln) NC_000005.10:138934045:C:A p.(Pro790Gln) NC_000005.10:138934045:C:A Identity +NM_001099271.2:c.568C>G NP_001092741.1:p.Arg190Gly NC_000005.10:75694776:G:C p.(Arg190Gly) NC_000005.10:75694776:G:C p.(Arg190Gly) NC_000005.10:75694776:G:C Identity +NM_000089.4:c.1793G>A NP_000080.2:p.Gly598Asp NC_000007.14:94416432:G:A p.(Gly598Asp) NC_000007.14:94416432:G:A p.(Gly598Asp) NC_000007.14:94416432:G:A Identity +NM_001037.5:c.352G>A NP_001028.1:p.Asp118Asn NC_000019.10:35033642:G:A p.(Asp118Asn) NC_000019.10:35033642:G:A p.(Asp118Asn) NC_000019.10:35033642:G:A Identity +NM_080473.5:c.1121C>T NP_536721.1:p.Thr374Met NC_000020.11:62464908:G:A p.(Thr374Met) NC_000020.11:62464908:G:A p.(Thr374Met) NC_000020.11:62464908:G:A Identity +NM_001042385.2:c.1896T>G NP_001035844.1:p.Asp632Glu NC_000002.12:44321838:A:C p.(Asp632Glu) NC_000002.12:44321838:A:C p.(Asp632Glu) NC_000002.12:44321838:A:C Identity +NM_001112808.3:c.459T>A NP_001106279.3:p.Asp153Glu NC_000001.11:74249464:T:A p.(Asp153Glu) NC_000001.11:74249464:T:A p.(Asp153Glu) NC_000001.11:74249464:T:A Identity +NM_000118.4:c.691C>A NP_000109.1:p.Pro231Thr NC_000009.12:127825355:G:T p.(Pro231Thr) NC_000009.12:127825355:G:T p.(Pro231Thr) NC_000009.12:127825355:G:T Identity +NM_000632.4:c.3409T>C NP_000623.2:p.Tyr1137His NC_000016.10:31331656:T:C p.(Tyr1137His) NC_000016.10:31331656:T:C p.(Tyr1137His) NC_000016.10:31331656:T:C Identity +NM_001345856.2:c.2268G>A NP_001332785.1:p.Met756Ile NC_000004.12:123090635:G:A p.(Met756Ile) NC_000004.12:123090635:G:A p.(Met756Ile) NC_000004.12:123090635:G:A Identity +NM_004523.4:c.1690A>G NP_004514.2:p.Lys564Glu NC_000010.11:92632680:A:G p.(Lys564Glu) NC_000010.11:92632680:A:G p.(Lys564Glu) NC_000010.11:92632680:A:G Identity +NM_001207006.3:c.130G>A NP_001193935.1:p.Asp44Asn NC_000004.12:122620881:C:T p.(Asp44Asn) NC_000004.12:122620881:C:T p.(Asp44Asn) NC_000004.12:122620881:C:T Identity +NM_001354798.2:c.274C>T NP_001341727.1:p.Pro92Ser NC_000003.12:39390504:C:T p.(Pro92Ser) NC_000003.12:39390504:C:T p.(Pro92Ser) NC_000003.12:39390504:C:T Identity +NM_015072.5:c.2264T>G NP_055887.3:p.Phe755Cys NC_000014.9:75775610:T:G p.(Phe755Cys) NC_000014.9:75775610:T:G p.(Phe755Cys) NC_000014.9:75775610:T:G Identity +NM_001369404.1:c.321G>A NP_001356333.1:p.Met107Ile NC_000011.10:19184969:C:T p.(Met107Ile) NC_000011.10:19184969:C:T p.(Met107Ile) NC_000011.10:19184969:C:T Identity +NM_000028.3:c.1321A>G NP_000019.2:p.Met441Val NC_000001.11:99876494:A:G p.(Met441Val) NC_000001.11:99876494:A:G p.(Met441Val) NC_000001.11:99876494:A:G Identity +NM_001277115.2:c.10562A>G NP_001264044.1:p.Gln3521Arg NC_000007.14:21816695:A:G p.(Gln3521Arg) NC_000007.14:21816695:A:G p.(Gln3521Arg) NC_000007.14:21816695:A:G Identity +NM_000018.4:c.1701_1702delinsAG NP_000009.1:p.Leu568Val NC_000017.11:7224663:GC:AG p.(Leu568Val) NC_000017.11:7224663:GC:AG p.(Leu568Val) NC_000017.11:7224663:GC:AG Identity +NM_004370.6:c.8602A>G NP_004361.3:p.Thr2868Ala NC_000006.12:75095154:T:C p.(Thr2868Ala) NC_000006.12:75095154:T:C p.(Thr2868Ala) NC_000006.12:75095154:T:C Identity +NM_001382235.1:c.1577G>C NP_001369164.1:p.Cys526Ser NC_000020.11:63414087:C:G p.(Cys526Ser) NC_000020.11:63414087:C:G p.(Cys526Ser) NC_000020.11:63414087:C:G Identity +NM_002470.4:c.891G>C NP_002461.2:p.Glu297Asp NC_000017.11:10647188:C:G p.(Glu297Asp) NC_000017.11:10647188:C:G p.(Glu297Asp) NC_000017.11:10647188:C:G Identity +NM_005477.3:c.3058A>C NP_005468.1:p.Thr1020Pro NC_000015.10:73323034:T:G p.(Thr1020Pro) NC_000015.10:73323034:T:G p.(Thr1020Pro) NC_000015.10:73323034:T:G Identity +NM_198578.4:c.851A>G NP_940980.4:p.Asn284Ser NC_000012.12:40249837:A:G p.(Asn284Ser) NC_000012.12:40249837:A:G p.(Asn284Ser) NC_000012.12:40249837:A:G Identity +NM_001127487.2:c.7489A>G NP_001120959.1:p.Thr2497Ala NC_000007.14:128857143:A:G p.(Thr2497Ala) NC_000007.14:128857143:A:G p.(Thr2497Ala) NC_000007.14:128857143:A:G Identity +NM_001277126.2:c.610G>A NP_001264055.1:p.Glu204Lys NC_000019.10:53811048:C:T p.(Glu204Lys) NC_000019.10:53811048:C:T p.(Glu204Lys) NC_000019.10:53811048:C:T Identity +NM_001252127.2:c.217G>A NP_001239056.1:p.Val73Ile NC_000015.10:50925118:G:A p.(Val73Ile) NC_000015.10:50925118:G:A p.(Val73Ile) NC_000015.10:50925118:G:A Identity +NM_000094.4:c.364G>A NP_000085.1:p.Ala122Thr NC_000003.12:48593598:C:T p.(Ala122Thr) NC_000003.12:48593598:C:T p.(Ala122Thr) NC_000003.12:48593598:C:T Identity +NM_178857.6:c.629_641del NP_849188.4:p.Leu210fs NC_000008.11:10616555:GGGCTGTGCAGCAGGGC:GGGC p.(Leu210ProfsTer17) NC_000008.11:10616555:GGGCTGTGCAGCAGGGC:GGGC p.(Leu210ProfsTer17) NC_000008.11:10616555:GGGCTGTGCAGCA: Analogous +NM_002618.4:c.463T>C NP_002609.1:p.Tyr155His NC_000002.12:61031788:T:C p.(Tyr155His) NC_000002.12:61031788:T:C p.(Tyr155His) NC_000002.12:61031788:T:C Identity +NM_001193300.2:c.375C>A NP_001180229.1:p.Phe125Leu NC_000001.11:156158398:C:A p.(Phe125Leu) NC_000001.11:156158398:C:A p.(Phe125Leu) NC_000001.11:156158398:C:A Identity +NM_001288951.2:c.899A>C NP_001275880.1:p.Tyr300Ser NC_000002.12:46994411:A:C p.(Tyr300Ser) NC_000002.12:46994411:A:C p.(Tyr300Ser) NC_000002.12:46994411:A:C Identity +NM_001127198.5:c.1252C>T NP_001120670.1:p.Arg418Trp NC_000017.11:78121686:G:A p.(Arg418Trp) NC_000017.11:78121686:G:A p.(Arg418Trp) NC_000017.11:78121686:G:A Identity +NM_000059.4:c.479T>C NP_000050.3:p.Val160Ala NC_000013.11:32326244:T:C p.(Val160Ala) NC_000013.11:32326244:T:C p.(Val160Ala) NC_000013.11:32326244:T:C Identity +NM_001128855.3:c.776A>G NP_001122327.1:p.Asn259Ser NC_000019.10:17339233:A:G p.(Asn259Ser) NC_000019.10:17339233:A:G p.(Asn259Ser) NC_000019.10:17339233:A:G Identity +NM_001256850.1:c.62008_62009del NP_001243779.1:p.Lys20670fs NC_000002.12:178580446:TTT:T p.(Lys20670ValfsTer3) NC_000002.12:178580446:TTT:T p.(Lys20670ValfsTer3) NC_000002.12:178580446:TT: Analogous +NM_001256850.1:c.65465del NP_001243779.1:p.Gly21822fs NC_000002.12:178575743:CC:C p.(Gly21822GlufsTer5) NC_000002.12:178575743:CC:C p.(Gly21822GlufsTer5) NC_000002.12:178575743:C: Analogous +NM_001365819.1:c.4901G>A NP_001352748.1:p.Arg1634His NC_000022.11:50454578:C:T p.(Arg1634His) NC_000022.11:50454578:C:T p.(Arg1634His) NC_000022.11:50454578:C:T Identity +NM_001001331.4:c.1759G>A NP_001001331.1:p.Val587Met NC_000003.12:10360023:C:T p.(Val587Met) NC_000003.12:10360023:C:T p.(Val587Met) NC_000003.12:10360023:C:T Identity +NM_000111.3:c.1922T>A NP_000102.1:p.Val641Asp NC_000007.14:107774004:A:T p.(Val641Asp) NC_000007.14:107774004:A:T p.(Val641Asp) NC_000007.14:107774004:A:T Identity +NM_001291774.2:c.549C>A NP_001278703.1:p.Asp183Glu NC_000019.10:55137131:G:T p.(Asp183Glu) NC_000019.10:55137131:G:T p.(Asp183Glu) NC_000019.10:55137131:G:T Identity +NM_000548.5:c.5121C>G NP_000539.2:p.Asn1707Lys NC_000016.10:2088099:C:G p.(Asn1707Lys) NC_000016.10:2088099:C:G p.(Asn1707Lys) NC_000016.10:2088099:C:G Identity +NM_000548.5:c.4422A>T NP_000539.2:p.Arg1474Ser NC_000016.10:2084643:A:T p.(Arg1474Ser) NC_000016.10:2084643:A:T p.(Arg1474Ser) NC_000016.10:2084643:A:T Identity +NM_001127493.3:c.2464C>A NP_001120965.1:p.Leu822Ile NC_000004.12:113302817:C:A p.(Leu822Ile) NC_000004.12:113302817:C:A p.(Leu822Ile) NC_000004.12:113302817:C:A Identity +NM_001080522.2:c.2641G>C NP_001073991.2:p.Glu881Gln NC_000004.12:15557318:G:C p.(Glu881Gln) NC_000004.12:15557318:G:C p.(Glu881Gln) NC_000004.12:15557318:G:C Identity +NM_032119.4:c.13765G>T NP_115495.3:p.Val4589Leu NC_000005.10:90788181:G:T p.(Val4589Leu) NC_000005.10:90788181:G:T p.(Val4589Leu) NC_000005.10:90788181:G:T Identity +NM_003079.5:c.523C>G NP_003070.3:p.Pro175Ala NC_000017.11:40635948:G:C p.(Pro175Ala) NC_000017.11:40635948:G:C p.(Pro175Ala) NC_000017.11:40635948:G:C Identity +NM_001006657.2:c.626G>A NP_001006658.1:p.Gly209Glu NC_000002.12:19974577:C:T p.(Gly209Glu) NC_000002.12:19974577:C:T p.(Gly209Glu) NC_000002.12:19974577:C:T Identity +NM_001440.4:c.2112G>C NP_001431.1:p.Glu704Asp NC_000008.11:28718170:G:C p.(Glu704Asp) NC_000008.11:28718170:G:C p.(Glu704Asp) NC_000008.11:28718170:G:C Identity +NM_001375991.1:c.318dup NP_001362920.1:p.Asp107Ter NC_000017.11:4946634:A:AA p.(Asp107Ter) NC_000017.11:4946634:A:AA p.(Asp107Ter) ERR:SPDI Identity +NM_015243.3:c.1166C>A NP_056058.2:p.Ser389Tyr NC_000008.11:99121404:C:A p.(Ser389Tyr) NC_000008.11:99121404:C:A p.(Ser389Tyr) NC_000008.11:99121404:C:A Identity +NM_001129.5:c.3170del NP_001120.3:p.Pro1057fs NC_000007.14:44113950:CCCC:CCC p.(Pro1057LeufsTer5) NC_000007.14:44113950:CCCC:CCC p.(Pro1057LeufsTer5) NC_000007.14:44113953:C: Analogous +NM_001167614.2:c.614C>G NP_001161086.1:p.Pro205Arg NC_000012.12:65170209:C:G p.(Pro205Arg) NC_000012.12:65170209:C:G p.(Pro205Arg) NC_000012.12:65170209:C:G Identity +NM_001317335.2:c.668G>A NP_001304264.1:p.Gly223Asp NC_000019.10:863122:G:A p.(Gly223Asp) NC_000019.10:863122:G:A p.(Gly223Asp) NC_000019.10:863122:G:A Identity +NM_206933.4:c.7816A>G NP_996816.3:p.Lys2606Glu NC_000001.11:215888832:T:C p.(Lys2606Glu) NC_000001.11:215888832:T:C p.(Lys2606Glu) NC_000001.11:215888832:T:C Identity +NM_001365999.1:c.4189G>A NP_001352928.1:p.Glu1397Lys NC_000001.11:43429724:G:A p.(Glu1397Lys) NC_000001.11:43429724:G:A p.(Glu1397Lys) NC_000001.11:43429724:G:A Identity +NM_001244008.2:c.788C>T NP_001230937.1:p.Thr263Met NC_000002.12:240783748:G:A p.(Thr263Met) NC_000002.12:240783748:G:A p.(Thr263Met) NC_000002.12:240783748:G:A Identity +NM_000271.5:c.3381G>A NP_000262.2:p.Met1127Ile NC_000018.10:23535564:C:T p.(Met1127Ile) NC_000018.10:23535564:C:T p.(Met1127Ile) NC_000018.10:23535564:C:T Identity +NM_001351059.2:c.200A>G NP_001337988.1:p.Asn67Ser NC_000011.10:68045030:A:G p.(Asn67Ser) NC_000011.10:68045030:A:G p.(Asn67Ser) NC_000011.10:68045030:A:G Identity +NM_000632.4:c.491A>G NP_000623.2:p.His164Arg NC_000016.10:31271016:A:G p.(His164Arg) NC_000016.10:31271016:A:G p.(His164Arg) NC_000016.10:31271016:A:G Identity +NM_001145715.3:c.745C>T NP_001139187.1:p.Leu249Phe NC_000007.14:99188454:G:A p.(Leu249Phe) NC_000007.14:99188454:G:A p.(Leu249Phe) NC_000007.14:99188454:G:A Identity +NM_000249.4:c.2216A>C NP_000240.1:p.Asn739Thr NC_000003.12:37050597:A:C p.(Asn739Thr) NC_000003.12:37050597:A:C p.(Asn739Thr) NC_000003.12:37050597:A:C Identity +NM_001098.3:c.637G>A NP_001089.1:p.Ala213Thr NC_000022.11:41515487:G:A p.(Ala213Thr) NC_000022.11:41515487:G:A p.(Ala213Thr) NC_000022.11:41515487:G:A Identity +NM_001271769.2:c.2539G>C NP_001258698.1:p.Gly847Arg NC_000005.10:78039165:C:G p.(Gly847Arg) NC_000005.10:78039165:C:G p.(Gly847Arg) NC_000005.10:78039165:C:G Identity +NM_012469.4:c.1694A>G NP_036601.2:p.Tyr565Cys NC_000020.11:64022802:A:G p.(Tyr565Cys) NC_000020.11:64022802:A:G p.(Tyr565Cys) NC_000020.11:64022802:A:G Identity +NM_001033604.2:c.833G>A NP_001028776.1:p.Arg278Gln NC_000007.14:33273141:G:A p.(Arg278Gln) NC_000007.14:33273141:G:A p.(Arg278Gln) NC_000007.14:33273141:G:A Identity +NM_001039476.3:c.442C>T NP_001034565.1:p.Pro148Ser NC_000016.10:93270:G:A p.(Pro148Ser) NC_000016.10:93270:G:A p.(Pro148Ser) NC_000016.10:93270:G:A Identity +NM_018206.6:c.2060G>A NP_060676.2:p.Gly687Glu NC_000016.10:46662249:C:T p.(Gly687Glu) NC_000016.10:46662249:C:T p.(Gly687Glu) NC_000016.10:46662249:C:T Identity +NM_001143850.3:c.466G>A NP_001137322.1:p.Val156Met NC_000012.12:123679193:G:A p.(Val156Met) NC_000012.12:123679193:G:A p.(Val156Met) NC_000012.12:123679193:G:A Identity +NM_001256896.2:c.580C>A NP_001243825.1:p.Pro194Thr NC_000004.12:3493495:C:A p.(Pro194Thr) NC_000004.12:3493495:C:A p.(Pro194Thr) NC_000004.12:3493495:C:A Identity +NM_032273.4:c.106T>C NP_115649.1:p.Ser36Pro NC_000011.10:85654081:T:C p.(Ser36Pro) NC_000011.10:85654081:T:C p.(Ser36Pro) NC_000011.10:85654081:T:C Identity +NM_000554.6:c.25C>T NP_000545.1:p.Pro9Ser NC_000019.10:47834467:C:T p.(Pro9Ser) NC_000019.10:47834467:C:T p.(Pro9Ser) NC_000019.10:47834467:C:T Identity +NM_001042385.2:c.1316G>T NP_001035844.1:p.Gly439Val NC_000002.12:44328963:C:A p.(Gly439Val) NC_000002.12:44328963:C:A p.(Gly439Val) NC_000002.12:44328963:C:A Identity +NM_000920.4:c.259G>C NP_000911.2:p.Gly87Arg NC_000011.10:66871748:C:G p.(Gly87Arg) NC_000011.10:66871748:C:G p.(Gly87Arg) NC_000011.10:66871748:C:G Identity +NM_001288781.1:c.768G>A NP_001275710.1:p.Met256Ile NC_000014.9:88857198:G:A p.(Met256Ile) NC_000014.9:88857198:G:A p.(Met256Ile) NC_000014.9:88857198:G:A Identity +NM_001312691.1:c.547C>T NP_001299620.1:p.Arg183Cys NC_000001.11:39852743:G:A p.(Arg183Cys) NC_000001.11:39852743:G:A p.(Arg183Cys) NC_000001.11:39852743:G:A Identity +NM_173689.7:c.83C>A NP_775960.4:p.Ser28Tyr NC_000009.12:123356342:C:A p.(Ser28Tyr) NC_000009.12:123356342:C:A p.(Ser28Tyr) NC_000009.12:123356342:C:A Identity +NM_001284351.3:c.1985T>A NP_001271280.1:p.Leu662His NC_000005.10:476256:A:T p.(Leu662His) NC_000005.10:476256:A:T p.(Leu662His) NC_000005.10:476256:A:T Identity +NM_016247.4:c.1763A>G NP_057331.2:p.Asp588Gly NC_000003.12:101244567:T:C p.(Asp588Gly) NC_000003.12:101244567:T:C p.(Asp588Gly) NC_000003.12:101244567:T:C Identity +NM_001278055.2:c.12950A>T NP_001264984.1:p.Asp4317Val NC_000013.11:23330484:T:A p.(Asp4317Val) NC_000013.11:23330484:T:A p.(Asp4317Val) NC_000013.11:23330484:T:A Identity +NM_006767.4:c.136G>A NP_006758.2:p.Gly46Arg NC_000022.11:20982506:G:A p.(Gly46Arg) NC_000022.11:20982506:G:A p.(Gly46Arg) NC_000022.11:20982506:G:A Identity +NM_000179.3:c.707A>G NP_000170.1:p.Gln236Arg NC_000002.12:47798689:A:G p.(Gln236Arg) NC_000002.12:47798689:A:G p.(Gln236Arg) NC_000002.12:47798689:A:G Identity +NM_001134771.2:c.266C>T NP_001128243.1:p.Ala89Val NC_000020.11:46035452:C:T p.(Ala89Val) NC_000020.11:46035452:C:T p.(Ala89Val) NC_000020.11:46035452:C:T Identity +NM_001164507.2:c.23940A>T NP_001157979.2:p.Lys7980Asn NC_000002.12:151501471:T:A p.(Lys7980Asn) NC_000002.12:151501471:T:A p.(Lys7980Asn) NC_000002.12:151501471:T:A Identity +NM_001386158.1:c.2963A>G NP_001373087.1:p.Gln988Arg NC_000004.12:113335911:A:G p.(Gln988Arg) NC_000004.12:113335911:A:G p.(Gln988Arg) NC_000004.12:113335911:A:G Identity +NM_004370.6:c.8305A>G NP_004361.3:p.Ile2769Val NC_000006.12:75103770:T:C p.(Ile2769Val) NC_000006.12:75103770:T:C p.(Ile2769Val) NC_000006.12:75103770:T:C Identity +NM_001145412.3:c.1180T>C NP_001138884.1:p.Ser394Pro NC_000002.12:177231374:A:G p.(Ser394Pro) NC_000002.12:177231374:A:G p.(Ser394Pro) NC_000002.12:177231374:A:G Identity +NM_000088.4:c.3640C>T NP_000079.2:p.Arg1214Cys NC_000017.11:50186813:G:A p.(Arg1214Cys) NC_000017.11:50186813:G:A p.(Arg1214Cys) NC_000017.11:50186813:G:A Identity +NM_001282933.2:c.1291G>A NP_001269862.1:p.Asp431Asn NC_000020.11:33766918:G:A p.(Asp431Asn) NC_000020.11:33766918:G:A p.(Asp431Asn) NC_000020.11:33766918:G:A Identity +NM_001278511.2:c.1636C>T NP_001265440.1:p.Arg546Trp NC_000015.10:82666866:G:A p.(Arg546Trp) NC_000015.10:82666866:G:A p.(Arg546Trp) NC_000015.10:82666866:G:A Identity +NM_144643.4:c.473T>C NP_653244.2:p.Leu158Ser NC_000004.12:128999747:A:G p.(Leu158Ser) NC_000004.12:128999747:A:G p.(Leu158Ser) NC_000004.12:128999747:A:G Identity +NM_000343.4:c.1618A>G NP_000334.1:p.Thr540Ala NC_000022.11:32102189:A:G p.(Thr540Ala) NC_000022.11:32102189:A:G p.(Thr540Ala) NC_000022.11:32102189:A:G Identity +NM_001378969.1:c.917G>A NP_001365898.1:p.Gly306Asp NC_000001.11:111981809:C:T p.(Gly306Asp) NC_000001.11:111981809:C:T p.(Gly306Asp) NC_000001.11:111981809:C:T Identity +NM_006231.4:c.3700G>C NP_006222.2:p.Val1234Leu NC_000012.12:132649771:C:G p.(Val1234Leu) NC_000012.12:132649771:C:G p.(Val1234Leu) NC_000012.12:132649771:C:G Identity +NM_001127897.4:c.2773G>A NP_001121369.1:p.Gly925Arg NC_000016.10:53641385:C:T p.(Gly925Arg) NC_000016.10:53641385:C:T p.(Gly925Arg) NC_000016.10:53641385:C:T Identity +NM_001271427.2:c.593A>T NP_001258356.1:p.Asn198Ile NC_000001.11:19241058:T:A p.(Asn198Ile) NC_000001.11:19241058:T:A p.(Asn198Ile) NC_000001.11:19241058:T:A Identity +NM_001144881.2:c.162G>T NP_001138353.1:p.Glu54Asp NC_000012.12:42470329:C:A p.(Glu54Asp) NC_000012.12:42470329:C:A p.(Glu54Asp) NC_000012.12:42470329:C:A Identity +NM_182493.3:c.376G>A NP_872299.2:p.Ala126Thr NC_000016.10:46747817:C:T p.(Ala126Thr) NC_000016.10:46747817:C:T p.(Ala126Thr) NC_000016.10:46747817:C:T Identity +NM_001136139.4:c.1432C>T NP_001129611.1:p.Pro478Ser NC_000019.10:1619128:G:A p.(Pro478Ser) NC_000019.10:1619128:G:A p.(Pro478Ser) NC_000019.10:1619128:G:A Identity +NM_030665.4:c.3817A>G NP_109590.3:p.Met1273Val NC_000017.11:17796764:A:G p.(Met1273Val) NC_000017.11:17796764:A:G p.(Met1273Val) NC_000017.11:17796764:A:G Identity +NM_001193300.2:c.1574T>C NP_001180229.1:p.Leu525Pro NC_000001.11:156175224:T:C p.(Leu525Pro) NC_000001.11:156175224:T:C p.(Leu525Pro) NC_000001.11:156175224:T:C Identity +NM_001135999.2:c.3940G>C NP_001129471.2:p.Ala1314Pro NC_000009.12:35560579:G:C p.(Ala1314Pro) NC_000009.12:35560579:G:C p.(Ala1314Pro) NC_000009.12:35560579:G:C Identity +NM_000283.4:c.2138T>A NP_000274.3:p.Met713Lys NC_000004.12:664888:T:A p.(Met713Lys) NC_000004.12:664888:T:A p.(Met713Lys) NC_000004.12:664888:T:A Identity +NM_001271.4:c.5444A>G NP_001262.3:p.Gln1815Arg NC_000015.10:93024661:A:G p.(Gln1815Arg) NC_000015.10:93024661:A:G p.(Gln1815Arg) NC_000015.10:93024661:A:G Identity +NM_016107.5:c.2539T>A NP_057191.2:p.Ser847Thr NC_000005.10:32385609:A:T p.(Ser847Thr) NC_000005.10:32385609:A:T p.(Ser847Thr) NC_000005.10:32385609:A:T Identity +NM_032790.4:c.634A>T NP_116179.2:p.Thr212Ser NC_000012.12:121641370:A:T p.(Thr212Ser) NW_018654719.1:47141:A:T p.(Thr212Ser) NC_000012.12:47141:T:T Identity +NM_000545.8:c.772C>G NP_000536.6:p.Leu258Val NC_000012.12:120994221:C:G p.(Leu258Val) NC_000012.12:120994221:C:G p.(Leu258Val) NC_000012.12:120994221:C:G Identity +NM_001033855.3:c.1604A>G NP_001029027.1:p.Gln535Arg NC_000010.11:14908882:T:C p.(Gln535Arg) NC_000010.11:14908882:T:C p.(Gln535Arg) NC_000010.11:14908882:T:C Identity +NM_000388.4:c.2794C>G NP_000379.3:p.Gln932Glu NC_000003.12:122284747:C:G p.(Gln932Glu) NC_000003.12:122284747:C:G p.(Gln932Glu) NC_000003.12:122284747:C:G Identity +NM_024422.6:c.2545C>T NP_077740.1:p.His849Tyr NC_000018.10:31068175:G:A p.(His849Tyr) NC_000018.10:31068175:G:A p.(His849Tyr) NC_000018.10:31068175:G:A Identity +NM_001291860.2:c.11303C>T NP_001278789.1:p.Thr3768Ile NC_000001.11:21831703:G:A p.(Thr3768Ile) NC_000001.11:21831703:G:A p.(Thr3768Ile) NC_000001.11:21831703:G:A Identity +NM_001321967.2:c.1055A>C NP_001308896.1:p.Gln352Pro NC_000010.11:87754717:T:G p.(Gln352Pro) NC_000010.11:87754717:T:G p.(Gln352Pro) NC_000010.11:87754717:T:G Identity +NM_001272073.2:c.946T>C NP_001259002.1:p.Tyr316His NC_000003.12:49100455:A:G p.(Tyr316His) NC_000003.12:49100455:A:G p.(Tyr316His) NC_000003.12:49100455:A:G Identity +NM_001178007.2:c.2024G>A NP_001171478.1:p.Arg675Gln NC_000004.12:122743915:G:A p.(Arg675Gln) NC_000004.12:122743915:G:A p.(Arg675Gln) NC_000004.12:122743915:G:A Identity +NM_001302959.2:c.390G>T NP_001289888.1:p.Leu130Phe NC_000011.10:67490135:G:T p.(Leu130Phe) NC_000011.10:67490135:G:T p.(Leu130Phe) NC_000011.10:67490135:G:T Identity +NM_020778.5:c.1286T>C NP_065829.4:p.Leu429Pro NC_000015.10:84840564:T:C p.(Leu429Pro) NC_000015.10:84840564:T:C p.(Leu429Pro) NC_000015.10:84840564:T:C Identity +NM_005914.4:c.864G>A NP_005905.2:p.Met288Ile NC_000008.11:47966217:G:A p.(Met288Ile) NC_000008.11:47966217:G:A p.(Met288Ile) NC_000008.11:47966217:G:A Identity +NM_001345962.2:c.820T>A NP_001332891.1:p.Ser274Thr NC_000004.12:83462551:A:T p.(Ser274Thr) NC_000004.12:83462551:A:T p.(Ser274Thr) NC_000004.12:83462551:A:T Identity +NM_001123226.2:c.1421G>A NP_001116698.1:p.Arg474His NC_000006.12:73482079:G:A p.(Arg474His) NC_000006.12:73482079:G:A p.(Arg474His) NC_000006.12:73482079:G:A Identity +NM_004706.4:c.2702T>G NP_004697.2:p.Leu901Arg NC_000019.10:41906748:T:G p.(Leu901Arg) NC_000019.10:41906748:T:G p.(Leu901Arg) NC_000019.10:41906748:T:G Identity +NM_001007097.3:c.358A>G NP_001007098.1:p.Ile120Val NC_000009.12:84702417:A:G p.(Ile120Val) NC_000009.12:84702417:A:G p.(Ile120Val) NC_000009.12:84702417:A:G Identity +NM_000760.4:c.648A>C NP_000751.1:p.Gln216His NC_000001.11:36473459:T:G p.(Gln216His) NC_000001.11:36473459:T:G p.(Gln216His) NC_000001.11:36473459:T:G Identity +NM_001354689.3:c.1117A>G NP_001341618.1:p.Thr373Ala NC_000003.12:12599741:T:C p.(Thr373Ala) NC_000003.12:12599741:T:C p.(Thr373Ala) NC_000003.12:12599741:T:C Identity +NM_004415.4:c.5212C>G NP_004406.2:p.Arg1738Gly NC_000006.12:7581401:C:G p.(Arg1738Gly) NC_000006.12:7581401:C:G p.(Arg1738Gly) NC_000006.12:7581401:C:G Identity +NM_001310332.2:c.618G>C NP_001297261.1:p.Gln206His NC_000014.9:24150321:G:C p.(Gln206His) NC_000014.9:24150321:G:C p.(Gln206His) NC_000014.9:24150321:G:C Identity +NM_000444.6:c.1621T>G NP_000435.3:p.Tyr541Asp NC_000023.11:22190477:T:G p.(Tyr541Asp) NC_000023.11:22190477:T:G p.(Tyr541Asp) NC_000023.11:22190477:T:G Identity +NM_001135659.3:c.128T>C NP_001129131.1:p.Phe43Ser NC_000002.12:51028145:A:G p.(Phe43Ser) NC_000002.12:51028145:A:G p.(Phe43Ser) NC_000002.12:51028145:A:G Identity +NM_001382394.1:c.539C>A NP_001369323.1:p.Ser180Tyr NC_000002.12:39054773:G:T p.(Ser180Tyr) NC_000002.12:39054773:G:T p.(Ser180Tyr) NC_000002.12:39054773:G:T Identity +NM_000018.4:c.491T>C NP_000009.1:p.Val164Ala NC_000017.11:7221550:T:C p.(Val164Ala) NC_000017.11:7221550:T:C p.(Val164Ala) NC_000017.11:7221550:T:C Identity +NM_001018115.3:c.1015G>A NP_001018125.1:p.Gly339Ser NC_000003.12:10043508:G:A p.(Gly339Ser) NC_000003.12:10043508:G:A p.(Gly339Ser) NC_000003.12:10043508:G:A Identity +NM_024753.5:c.3680A>G NP_079029.3:p.Asn1227Ser NC_000002.12:165883797:T:C p.(Asn1227Ser) NC_000002.12:165883797:T:C p.(Asn1227Ser) NC_000002.12:165883797:T:C Identity +NM_001363711.2:c.3842C>G NP_001350640.1:p.Pro1281Arg NC_000015.10:45097242:G:C p.(Pro1281Arg) NC_000015.10:45097242:G:C p.(Pro1281Arg) NC_000015.10:45097242:G:C Identity +NM_001080467.3:c.938C>T NP_001073936.1:p.Thr313Ile NC_000018.10:49984725:G:A p.(Thr313Ile) NC_000018.10:49984725:G:A p.(Thr313Ile) NC_000018.10:49984725:G:A Identity +NM_001030311.3:c.279T>G NP_001025482.1:p.Ile93Met NC_000002.12:181604038:A:C p.(Ile93Met) NC_000002.12:181604038:A:C p.(Ile93Met) NC_000002.12:181604038:A:C Identity +NM_001005505.3:c.2482C>T NP_001005505.1:p.Arg828Cys NC_000003.12:50367028:G:A p.(Arg828Cys) NC_000003.12:50367028:G:A p.(Arg828Cys) NC_000003.12:50367028:G:A Identity +NM_000179.3:c.64A>C NP_000170.1:p.Lys22Gln NC_000002.12:47783296:A:C p.(Lys22Gln) NC_000002.12:47783296:A:C p.(Lys22Gln) NC_000002.12:47783296:A:C Identity +NM_001278590.2:c.5C>G NP_001265519.1:p.Ser2Cys NC_000004.12:39459121:C:G p.(Ser2Cys) NC_000004.12:39459121:C:G p.(Ser2Cys) NC_000004.12:39459121:C:G Identity +NM_000540.3:c.6002C>G NP_000531.2:p.Pro2001Arg NC_000019.10:38490262:C:G p.(Pro2001Arg) NC_000019.10:38490262:C:G p.(Pro2001Arg) NC_000019.10:38490262:C:G Identity +NM_006269.2:c.4132C>T NP_006260.1:p.Pro1378Ser NC_000008.11:54628013:C:T p.(Pro1378Ser) NC_000008.11:54628013:C:T p.(Pro1378Ser) NC_000008.11:54628013:C:T Identity +NM_012469.4:c.1861G>A NP_036601.2:p.Ala621Thr NC_000020.11:64024645:G:A p.(Ala621Thr) NC_000020.11:64024645:G:A p.(Ala621Thr) NC_000020.11:64024645:G:A Identity +NM_001377289.1:c.1267C>A NP_001364218.1:p.Pro423Thr NC_000006.12:70241995:G:T p.(Pro423Thr) NC_000006.12:70241995:G:T p.(Pro423Thr) NC_000006.12:70241995:G:T Identity +NM_001004334.4:c.814G>A NP_001004334.3:p.Val272Ile NC_000017.11:38339505:C:T p.(Val272Ile) NC_000017.11:38339505:C:T p.(Val272Ile) NC_000017.11:38339505:C:T Identity +NM_001164317.2:c.2974C>G NP_001157789.1:p.Leu992Val NC_000003.12:58121350:C:G p.(Leu992Val) NC_000003.12:58121350:C:G p.(Leu992Val) NC_000003.12:58121350:C:G Identity +NM_001130955.2:c.3147C>G NP_001124427.2:p.Ser1049Arg NC_000019.10:7469988:C:G p.(Ser1049Arg) NC_000019.10:7469988:C:G p.(Ser1049Arg) NC_000019.10:7469988:C:G Identity +NM_000109.4:c.9982A>G NP_000100.3:p.Ile3328Val NC_000023.11:31180449:T:C p.(Ile3328Val) NC_000023.11:31180449:T:C p.(Ile3328Val) NC_000023.11:31180449:T:C Identity +NM_001079821.3:c.1700A>C NP_001073289.2:p.Glu567Ala NC_000001.11:247425148:A:C p.(Glu567Ala) NC_000001.11:247425148:A:C p.(Glu567Ala) NC_000001.11:247425148:A:C Identity +NM_015335.5:c.1525G>A NP_056150.1:p.Gly509Arg NC_000012.12:116008887:C:T p.(Gly509Arg) NC_000012.12:116008887:C:T p.(Gly509Arg) NC_000012.12:116008887:C:T Identity +NM_032444.4:c.2742T>G NP_115820.2:p.Asp914Glu NC_000016.10:3590895:A:C p.(Asp914Glu) NC_000016.10:3590895:A:C p.(Asp914Glu) NC_000016.10:3590895:A:C Identity +NM_001282403.2:c.706G>A NP_001269332.1:p.Val236Ile NC_000007.14:76064899:G:A p.(Val236Ile) NC_000007.14:76064899:G:A p.(Val236Ile) NC_000007.14:76064899:G:A Identity +NM_001159291.2:c.1136G>A NP_001152763.1:p.Arg379His NC_000006.12:109449696:C:T p.(Arg379His) NC_000006.12:109449696:C:T p.(Arg379His) NC_000006.12:109449696:C:T Identity +NM_001308301.1:c.235G>T NP_001295230.1:p.Ala79Ser NC_000016.10:46732411:C:A p.(Ala79Ser) NC_000016.10:46732411:C:A p.(Ala79Ser) NC_000016.10:46732411:C:A Identity +NM_001378454.1:c.7564G>A NP_001365383.1:p.Ala2522Thr NC_000002.12:73455184:G:A p.(Ala2522Thr) NC_000002.12:73455184:G:A p.(Ala2522Thr) NC_000002.12:73455184:G:A Identity +NM_001374307.2:c.1767G>T NP_001361236.1:p.Glu589Asp NC_000009.12:127684473:G:T p.(Glu589Asp) NC_000009.12:127684473:G:T p.(Glu589Asp) NC_000009.12:127684473:G:T Identity +NM_000445.5:c.7329G>T NP_000436.2:p.Lys2443Asn NC_000008.11:143922680:C:A p.(Lys2443Asn) NC_000008.11:143922680:C:A p.(Lys2443Asn) NC_000008.11:143922680:C:A Identity +NM_001135999.2:c.1501C>T NP_001129471.2:p.Arg501Cys NC_000009.12:35548021:C:T p.(Arg501Cys) NC_000009.12:35548021:C:T p.(Arg501Cys) NC_000009.12:35548021:C:T Identity +NM_001244189.2:c.2621T>C NP_001231118.1:p.Ile874Thr NC_000014.9:58470631:T:C p.(Ile874Thr) NC_000014.9:58470631:T:C p.(Ile874Thr) NC_000014.9:58470631:T:C Identity +NM_001164665.2:c.4673C>G NP_001158137.1:p.Thr1558Ser NC_000007.14:138869639:G:C p.(Thr1558Ser) NC_000007.14:138869639:G:C p.(Thr1558Ser) NC_000007.14:138869639:G:C Identity +NM_007348.4:c.422G>A NP_031374.2:p.Ser141Asn NC_000001.11:161791474:G:A p.(Ser141Asn) NC_000001.11:161791474:G:A p.(Ser141Asn) NC_000001.11:161791474:G:A Identity +NM_014510.3:c.10058A>G NP_055325.2:p.Glu3353Gly NC_000007.14:82950529:T:C p.(Glu3353Gly) NC_000007.14:82950529:T:C p.(Glu3353Gly) NC_000007.14:82950529:T:C Identity +NM_001190709.2:c.5281G>A NP_001177638.1:p.Gly1761Ser NC_000001.11:102878041:C:T p.(Gly1761Ser) NC_000001.11:102878041:C:T p.(Gly1761Ser) NC_000001.11:102878041:C:T Identity +NM_000388.4:c.1135G>A NP_000379.3:p.Glu379Lys NC_000003.12:122262169:G:A p.(Glu379Lys) NC_000003.12:122262169:G:A p.(Glu379Lys) NC_000003.12:122262169:G:A Identity +NM_017890.5:c.11889_11891del NP_060360.3:p.Ser3964del NC_000008.11:99875484:CATC:C p.(Ser3964del) NC_000008.11:99875484:CATC:C p.(Ser3964del) NC_000008.11:99875485:ATC: Identity +NM_001365951.3:c.1487G>A NP_001352880.1:p.Arg496His NC_000001.11:10291133:G:A p.(Arg496His) NC_000001.11:10291133:G:A p.(Arg496His) NC_000001.11:10291133:G:A Identity +NM_001256896.2:c.79G>A NP_001243825.1:p.Asp27Asn NC_000004.12:3492994:G:A p.(Asp27Asn) NC_000004.12:3492994:G:A p.(Asp27Asn) NC_000004.12:3492994:G:A Identity +NM_001367562.3:c.1513G>A NP_001354491.2:p.Gly505Ser NC_000007.14:75985701:G:A p.(Gly505Ser) NC_000007.14:75985701:G:A p.(Gly505Ser) NC_000007.14:75985701:G:A Identity +NM_001160227.2:c.2317G>A NP_001153699.1:p.Val773Ile NC_000015.10:44622346:C:T p.(Val773Ile) NC_000015.10:44622346:C:T p.(Val773Ile) NC_000015.10:44622346:C:T Identity +NM_001363734.1:c.2755A>G NP_001350663.1:p.Ile919Val NC_000020.11:32435649:A:G p.(Ile919Val) NC_000020.11:32435649:A:G p.(Ile919Val) NC_000020.11:32435649:A:G Identity +NM_001204824.2:c.1495A>T NP_001191753.1:p.Met499Leu NC_000008.11:132132208:T:A p.(Met499Leu) NC_000008.11:132132208:T:A p.(Met499Leu) NC_000008.11:132132208:T:A Identity +NM_007208.4:c.506G>T NP_009139.1:p.Gly169Val NC_000003.12:131490042:C:A p.(Gly169Val) NC_000003.12:131490042:C:A p.(Gly169Val) NC_000003.12:131490042:C:A Identity +NM_001367624.2:c.7975G>A NP_001354553.1:p.Gly2659Arg NC_000016.10:88435444:G:A p.(Gly2659Arg) NC_000016.10:88435444:G:A p.(Gly2659Arg) NC_000016.10:88435444:G:A Identity +NM_015295.3:c.3700C>G NP_056110.2:p.Leu1234Val NC_000018.10:2743826:C:G p.(Leu1234Val) NC_000018.10:2743826:C:G p.(Leu1234Val) NC_000018.10:2743826:C:G Identity +NM_001005407.2:c.4089C>G NP_001005407.1:p.Ser1363Arg NC_000016.10:1210836:C:G p.(Ser1363Arg) NC_000016.10:1210836:C:G p.(Ser1363Arg) NC_000016.10:1210836:C:G Identity +NM_000091.5:c.3463G>A NP_000082.2:p.Gly1155Ser NC_000002.12:227295007:G:A p.(Gly1155Ser) NC_000002.12:227295007:G:A p.(Gly1155Ser) NC_000002.12:227295007:G:A Identity +NM_014141.6:c.412G>A NP_054860.1:p.Gly138Arg NC_000007.14:147043915:G:A p.(Gly138Arg) NC_000007.14:147043915:G:A p.(Gly138Arg) NC_000007.14:147043915:G:A Identity +NM_002439.5:c.571A>G NP_002430.3:p.Asn191Asp NC_000005.10:80665354:A:G p.(Asn191Asp) NC_000005.10:80665354:A:G p.(Asn191Asp) NC_000005.10:80665354:A:G Identity +NM_001348729.2:c.4918A>G NP_001335658.1:p.Ile1640Val NC_000002.12:8731120:T:C p.(Ile1640Val) NC_000002.12:8731120:T:C p.(Ile1640Val) NC_000002.12:8731120:T:C Identity +NM_001286577.2:c.86T>C NP_001273506.1:p.Leu29Pro NC_000011.10:74168582:A:G p.(Leu29Pro) NC_000011.10:74168582:A:G p.(Leu29Pro) NC_000011.10:74168582:A:G Identity +NM_001290184.2:c.1112G>A NP_001277113.1:p.Arg371Gln NC_000001.11:160353229:G:A p.(Arg371Gln) NC_000001.11:160353229:G:A p.(Arg371Gln) NC_000001.11:160353229:G:A Identity +NM_003906.5:c.962C>T NP_003897.2:p.Pro321Leu NC_000021.9:46284324:G:A p.(Pro321Leu) NC_000021.9:46284324:G:A p.(Pro321Leu) NC_000021.9:46284324:G:A Identity +NM_019109.5:c.225T>A NP_061982.3:p.Asp75Glu NC_000016.10:5072966:T:A p.(Asp75Glu) NC_000016.10:5072966:T:A p.(Asp75Glu) NC_000016.10:5072966:T:A Identity +NM_003482.4:c.13097C>T NP_003473.3:p.Ala4366Val NC_000012.12:49031607:G:A p.(Ala4366Val) NC_000012.12:49031607:G:A p.(Ala4366Val) NC_000012.12:49031607:G:A Identity +NM_000152.5:c.2270A>G NP_000143.2:p.Gln757Arg NC_000017.11:80117047:A:G p.(Gln757Arg) NC_000017.11:80117047:A:G p.(Gln757Arg) NC_000017.11:80117047:A:G Identity +NM_001003800.2:c.454A>T NP_001003800.1:p.Ile152Phe NC_000009.12:92722807:T:A p.(Ile152Phe) NC_000009.12:92722807:T:A p.(Ile152Phe) NC_000009.12:92722807:T:A Identity +NM_033071.5:c.5679G>C NP_149062.2:p.Gln1893His NC_000006.12:152416778:C:G p.(Gln1893His) NC_000006.12:152416778:C:G p.(Gln1893His) NC_000006.12:152416778:C:G Identity +NM_001128431.4:c.244G>A NP_001121903.1:p.Val82Met NC_000008.11:22404953:G:A p.(Val82Met) NC_000008.11:22404953:G:A p.(Val82Met) NC_000008.11:22404953:G:A Identity +NM_000162.5:c.388A>T NP_000153.1:p.Ile130Phe NC_000007.14:44151050:T:A p.(Ile130Phe) NC_000007.14:44151050:T:A p.(Ile130Phe) NC_000007.14:44151050:T:A Identity +NM_025114.4:c.6571C>G NP_079390.3:p.His2191Asp NC_000012.12:88059971:G:C p.(His2191Asp) NC_000012.12:88059971:G:C p.(His2191Asp) NC_000012.12:88059971:G:C Identity +NM_000204.5:c.662C>A NP_000195.3:p.Ser221Tyr NC_000004.12:109760632:G:T p.(Ser221Tyr) NC_000004.12:109760632:G:T p.(Ser221Tyr) NC_000004.12:109760632:G:T Identity +NM_001145527.2:c.1379C>T NP_001138999.1:p.Ser460Leu NC_000009.12:137757888:C:T p.(Ser460Leu) NC_000009.12:137757888:C:T p.(Ser460Leu) NC_000009.12:137757888:C:T Identity +NM_002335.4:c.1696C>T NP_002326.2:p.Arg566Cys NC_000011.10:68403593:C:T p.(Arg566Cys) NC_000011.10:68403593:C:T p.(Arg566Cys) NC_000011.10:68403593:C:T Identity +NM_001257180.2:c.763G>A NP_001244109.1:p.Val255Ile NC_000008.11:42439620:C:T p.(Val255Ile) NC_000008.11:42439620:C:T p.(Val255Ile) NC_000008.11:42439620:C:T Identity +NM_015909.4:c.4417C>T NP_056993.2:p.His1473Tyr NC_000002.12:15328242:G:A p.(His1473Tyr) NC_000002.12:15328242:G:A p.(His1473Tyr) NC_000002.12:15328242:G:A Identity +NM_001031714.4:c.2150G>A NP_001026884.3:p.Arg717Gln NC_000014.9:104710098:G:A p.(Arg717Gln) NC_000014.9:104710098:G:A p.(Arg717Gln) NC_000014.9:104710098:G:A Identity +NM_006231.4:c.1236G>C NP_006222.2:p.Lys412Asn NC_000012.12:132673697:C:G p.(Lys412Asn) NC_000012.12:132673697:C:G p.(Lys412Asn) NC_000012.12:132673697:C:G Identity +NM_001317090.2:c.1042G>C NP_001304019.1:p.Asp348His NC_000011.10:64299585:G:C p.(Asp348His) NC_000011.10:64299585:G:C p.(Asp348His) NC_000011.10:64299585:G:C Identity +NM_000428.3:c.1102C>A NP_000419.1:p.His368Asn NC_000014.9:74552981:G:T p.(His368Asn) NC_000014.9:74552981:G:T p.(His368Asn) NC_000014.9:74552981:G:T Identity +NM_001098.3:c.5C>T NP_001089.1:p.Ala2Val NC_000022.11:41469150:C:T p.(Ala2Val) NC_000022.11:41469150:C:T p.(Ala2Val) NC_000022.11:41469150:C:T Identity +NM_001286577.2:c.2483G>T NP_001273506.1:p.Cys828Phe NC_000011.10:74103227:C:A p.(Cys828Phe) NC_000011.10:74103227:C:A p.(Cys828Phe) NC_000011.10:74103227:C:A Identity +NM_001080517.3:c.3253G>T NP_001073986.1:p.Gly1085Trp NC_000003.12:9473292:G:T p.(Gly1085Trp) NC_000003.12:9473292:G:T p.(Gly1085Trp) NC_000003.12:9473292:G:T Identity +NM_001127505.3:c.649C>G NP_001120977.1:p.Leu217Val NC_000008.11:18061721:G:C p.(Leu217Val) NC_000008.11:18061721:G:C p.(Leu217Val) NC_000008.11:18061721:G:C Identity +NM_018706.7:c.1685A>G NP_061176.4:p.Lys562Arg NC_000010.11:12100190:A:G p.(Lys562Arg) NC_000010.11:12100190:A:G p.(Lys562Arg) NC_000010.11:12100190:A:G Identity +NM_001128148.3:c.2185A>G NP_001121620.1:p.Thr729Ala NC_000003.12:196052039:T:C p.(Thr729Ala) NC_000003.12:196052039:T:C p.(Thr729Ala) NC_000003.12:196052039:T:C Identity +NM_001257281.2:c.475_477del NP_001244210.1:p.Asn159del NC_000002.12:232087592:ATAAT:AT p.(Asn159del) NC_000002.12:232087592:ATAAT:AT p.(Asn159del) NC_000002.12:232087594:AAT: Identity +NM_001321851.1:c.328A>G NP_001308780.1:p.Lys110Glu NC_000014.9:92021812:T:C p.(Lys110Glu) NC_000014.9:92021812:T:C p.(Lys110Glu) NC_000014.9:92021812:T:C Identity +NM_022124.6:c.5278G>A NP_071407.4:p.Gly1760Arg NC_000010.11:71779356:G:A p.(Gly1760Arg) NC_000010.11:71779356:G:A p.(Gly1760Arg) NC_000010.11:71779356:G:A Identity +NM_001382708.1:c.1130A>G NP_001369637.1:p.Lys377Arg NC_000002.12:219421448:A:G p.(Lys377Arg) NC_000002.12:219421448:A:G p.(Lys377Arg) NC_000002.12:219421448:A:G Identity +NM_001244008.2:c.5320G>T NP_001230937.1:p.Ala1774Ser NC_000002.12:240718062:C:A p.(Ala1774Ser) NC_000002.12:240718062:C:A p.(Ala1774Ser) NC_000002.12:240718062:C:A Identity +NM_001308258.2:c.1178T>G NP_001295187.1:p.Leu393Arg NC_000003.12:149157512:T:G p.(Leu393Arg) NC_000003.12:149157512:T:G p.(Leu393Arg) NC_000003.12:149157512:T:G Identity +NM_017802.4:c.215C>T NP_060272.3:p.Pro72Leu NC_000007.14:726934:C:T p.(Pro72Leu) NC_000007.14:726934:C:T p.(Pro72Leu) NC_000007.14:726934:C:T Identity +NM_001166059.2:c.586C>T NP_001159531.1:p.Pro196Ser NC_000001.11:23804476:G:A p.(Pro196Ser) NC_000001.11:23804476:G:A p.(Pro196Ser) NC_000001.11:23804476:G:A Identity +NM_001308122.2:c.1334C>T NP_001295051.1:p.Pro445Leu NC_000005.10:132390898:C:T p.(Pro445Leu) NC_000005.10:132390898:C:T p.(Pro445Leu) NC_000005.10:132390898:C:T Identity +NM_001286130.2:c.3406C>G NP_001273059.1:p.Leu1136Val NC_000016.10:57887892:G:C p.(Leu1136Val) NC_000016.10:57887892:G:C p.(Leu1136Val) NC_000016.10:57887892:G:C Identity +NM_001270476.2:c.328A>G NP_001257405.1:p.Ile110Val NC_000006.12:43007988:A:G p.(Ile110Val) NC_000006.12:43007988:A:G p.(Ile110Val) NC_000006.12:43007988:A:G Identity +NM_000162.5:c.1271A>C NP_000153.1:p.His424Pro NC_000007.14:44145262:T:G p.(His424Pro) NC_000007.14:44145262:T:G p.(His424Pro) NC_000007.14:44145262:T:G Identity +NM_003482.4:c.6443G>T NP_003473.3:p.Gly2148Val NC_000012.12:49041326:C:A p.(Gly2148Val) NC_000012.12:49041326:C:A p.(Gly2148Val) NC_000012.12:49041326:C:A Identity +NM_001170414.2:c.1898A>G NP_001163885.1:p.Lys633Arg NC_000009.12:69236213:A:G p.(Lys633Arg) NC_000009.12:69236213:A:G p.(Lys633Arg) NC_000009.12:69236213:A:G Identity +NM_000094.4:c.469G>A NP_000085.1:p.Asp157Asn NC_000003.12:48593406:C:T p.(Asp157Asn) NC_000003.12:48593406:C:T p.(Asp157Asn) NC_000003.12:48593406:C:T Identity +NM_001040610.3:c.1852C>T NP_001035700.1:p.Arg618Ter NC_000015.10:82157737:G:A p.(Arg618Ter) NC_000015.10:82157737:G:A p.(Arg618Ter) NC_000015.10:82157737:G:A Identity +NM_004273.5:c.726C>A NP_004264.2:p.Phe242Leu NC_000010.11:72007756:C:A p.(Phe242Leu) NC_000010.11:72007756:C:A p.(Phe242Leu) NC_000010.11:72007756:C:A Identity +NM_001160227.2:c.3848G>A NP_001153699.1:p.Cys1283Tyr NC_000015.10:44598674:C:T p.(Cys1283Tyr) NC_000015.10:44598674:C:T p.(Cys1283Tyr) NC_000015.10:44598674:C:T Identity +NM_005188.4:c.2252G>T NP_005179.2:p.Gly751Val NC_000011.10:119298357:G:T p.(Gly751Val) NC_000011.10:119298357:G:T p.(Gly751Val) NC_000011.10:119298357:G:T Identity +NM_001083885.3:c.478A>G NP_001077354.2:p.Asn160Asp NC_000009.12:114408017:T:C p.(Asn160Asp) NC_000009.12:114408017:T:C p.(Asn160Asp) NC_000009.12:114408017:T:C Identity +NM_001164281.3:c.1469G>A NP_001157753.1:p.Arg490Gln NC_000006.12:111566447:C:T p.(Arg490Gln) NC_000006.12:111566447:C:T p.(Arg490Gln) NC_000006.12:111566447:C:T Identity +NM_024592.5:c.517G>A NP_078868.1:p.Val173Ile NC_000004.12:55364225:G:A p.(Val173Ile) NC_000004.12:55364225:G:A p.(Val173Ile) NC_000004.12:55364225:G:A Identity +NM_001099922.3:c.1225G>C NP_001093392.1:p.Asp409His NC_000023.11:111718248:G:C p.(Asp409His) NC_000023.11:111718248:G:C p.(Asp409His) NC_000023.11:111718248:G:C Identity +NM_001195622.2:c.2516C>T NP_001182551.1:p.Ser839Phe NC_000009.12:32541813:G:A p.(Ser839Phe) NC_000009.12:32541813:G:A p.(Ser839Phe) NC_000009.12:32541813:G:A Identity +NM_001291285.3:c.14373A>C NP_001278214.1:p.Glu4791Asp NC_000004.12:125491191:A:C p.(Glu4791Asp) NC_000004.12:125491191:A:C p.(Glu4791Asp) NC_000004.12:125491191:A:C Identity +NM_000081.4:c.997C>T NP_000072.2:p.His333Tyr NC_000001.11:235809820:G:A p.(His333Tyr) NC_000001.11:235809820:G:A p.(His333Tyr) NC_000001.11:235809820:G:A Identity +NM_001371986.1:c.8543G>A NP_001358915.1:p.Arg2848His NC_000002.12:209973225:G:A p.(Arg2848His) NC_000002.12:209973225:G:A p.(Arg2848His) NC_000002.12:209973225:G:A Identity +NM_001195573.1:c.34G>T NP_001182502.1:p.Ala12Ser NC_000014.9:95133424:C:A p.(Ala12Ser) NC_000014.9:95133424:C:A p.(Ala12Ser) NC_000014.9:95133424:C:A Identity +NM_000179.3:c.1861C>G NP_000170.1:p.Leu621Val NC_000002.12:47799843:C:G p.(Leu621Val) NC_000002.12:47799843:C:G p.(Leu621Val) NC_000002.12:47799843:C:G Identity +NM_014003.4:c.2770A>G NP_054722.2:p.Met924Val NC_000016.10:72107508:A:G p.(Met924Val) NC_000016.10:72107508:A:G p.(Met924Val) NC_000016.10:72107508:A:G Identity +NM_001123226.2:c.61C>G NP_001116698.1:p.Pro21Ala NC_000006.12:73461914:C:G p.(Pro21Ala) NC_000006.12:73461914:C:G p.(Pro21Ala) NC_000006.12:73461914:C:G Identity +NM_001002261.4:c.680G>A NP_001002261.1:p.Arg227Lys NC_000010.11:97750345:G:A p.(Arg227Lys) NC_000010.11:97750345:G:A p.(Arg227Lys) NC_000010.11:97750345:G:A Identity +NM_000088.4:c.3023C>G NP_000079.2:p.Pro1008Arg NC_000017.11:50188924:G:C p.(Pro1008Arg) NC_000017.11:50188924:G:C p.(Pro1008Arg) NC_000017.11:50188924:G:C Identity +NM_001193640.2:c.3526G>A NP_001180569.1:p.Gly1176Ser NC_000001.11:197438658:G:A p.(Gly1176Ser) NC_000001.11:197438658:G:A p.(Gly1176Ser) NC_000001.11:197438658:G:A Identity +NM_024753.5:c.670G>A NP_079029.3:p.Ala224Thr NC_000002.12:165941066:C:T p.(Ala224Thr) NC_000002.12:165941066:C:T p.(Ala224Thr) NC_000002.12:165941066:C:T Identity +NM_005908.4:c.676A>G NP_005899.3:p.Lys226Glu NC_000004.12:102690768:T:C p.(Lys226Glu) NC_000004.12:102690768:T:C p.(Lys226Glu) NC_000004.12:102690768:T:C Identity +NM_000153.4:c.1829A>C NP_000144.2:p.Asp610Ala NC_000014.9:87941399:T:G p.(Asp610Ala) NC_000014.9:87941399:T:G p.(Asp610Ala) NC_000014.9:87941399:T:G Identity +NM_001378120.1:c.4313G>A NP_001365049.1:p.Gly1438Glu NC_000002.12:148489944:G:A p.(Gly1438Glu) NC_000002.12:148489944:G:A p.(Gly1438Glu) NC_000002.12:148489944:G:A Identity +NM_000263.4:c.703T>C NP_000254.2:p.Ser235Pro NC_000017.11:42538693:T:C p.(Ser235Pro) NC_000017.11:42538693:T:C p.(Ser235Pro) NC_000017.11:42538693:T:C Identity +NM_000426.4:c.2441C>T NP_000417.3:p.Pro814Leu NC_000006.12:129270741:C:T p.(Pro814Leu) NC_000006.12:129270741:C:T p.(Pro814Leu) NC_000006.12:129270741:C:T Identity +NM_001282708.1:c.64A>G NP_001269637.1:p.Thr22Ala NC_000009.12:130693854:A:G p.(Thr22Ala) NC_000009.12:130693854:A:G p.(Thr22Ala) NC_000009.12:130693854:A:G Identity +NM_001004334.4:c.2684G>A NP_001004334.3:p.Arg895Gln NC_000017.11:38330884:C:T p.(Arg895Gln) NC_000017.11:38330884:C:T p.(Arg895Gln) NC_000017.11:38330884:C:T Identity +NM_207346.3:c.1186C>T NP_997229.2:p.Arg396Trp NC_000017.11:75522266:C:T p.(Arg396Trp) NC_000017.11:75522266:C:T p.(Arg396Trp) NC_000017.11:75522266:C:T Identity +NM_007186.6:c.1106T>C NP_009117.2:p.Leu369Ser NC_000020.11:35472727:T:C p.(Leu369Ser) NC_000020.11:35472727:T:C p.(Leu369Ser) NC_000020.11:35472727:T:C Identity +NM_000319.5:c.1108A>G NP_000310.2:p.Thr370Ala NC_000012.12:7208030:A:G p.(Thr370Ala) NC_000012.12:7208030:A:G p.(Thr370Ala) NC_000012.12:7208030:A:G Identity +NM_001315529.2:c.7889C>T NP_001302458.1:p.Ala2630Val NC_000021.9:46431706:C:T p.(Ala2630Val) NC_000021.9:46431706:C:T p.(Ala2630Val) NC_000021.9:46431706:C:T Identity +NM_000111.3:c.2231C>T NP_000102.1:p.Thr744Ile NC_000007.14:107767618:G:A p.(Thr744Ile) NC_000007.14:107767618:G:A p.(Thr744Ile) NC_000007.14:107767618:G:A Identity +NM_001135599.4:c.116C>T NP_001129071.1:p.Ala39Val NC_000001.11:218346816:C:T p.(Ala39Val) NC_000001.11:218346816:C:T p.(Ala39Val) NC_000001.11:218346816:C:T Identity +NM_001363602.2:c.38G>T NP_001350531.1:p.Arg13Leu NC_000019.10:1387831:G:T p.(Arg13Leu) NC_000019.10:1387831:G:T p.(Arg13Leu) NC_000019.10:1387831:G:T Identity +NM_002386.4:c.670_691del NP_002377.4:p.Leu224fs NC_000016.10:89919920:CGCCCGGCTCCACAAGAGGCAGCGCCCGG:CGCCCGG p.(Leu224SerfsTer83) NC_000016.10:89919920:CGCCCGGCTCCACAAGAGGCAGCGCCCGG:CGCCCGG p.(Leu224SerfsTer83) NC_000016.10:89919927:CTCCACAAGAGGCAGCGCCCGG: Analogous +NM_001318872.2:c.1256G>T NP_001305801.1:p.Arg419Leu NC_000006.12:5771328:G:T p.(Arg419Leu) NC_000006.12:5771328:G:T p.(Arg419Leu) NC_000006.12:5771328:G:T Identity +NM_001367473.1:c.1049C>T NP_001354402.1:p.Pro350Leu NC_000001.11:6444538:C:T p.(Pro350Leu) NC_000001.11:6444538:C:T p.(Pro350Leu) NC_000001.11:6444538:C:T Identity +NM_001136540.2:c.1168A>G NP_001130012.1:p.Lys390Glu NC_000022.11:36266003:A:G p.(Lys390Glu) NC_000022.11:36266003:A:G p.(Lys390Glu) NC_000022.11:36266003:A:G Identity +NM_001324191.2:c.775T>C NP_001311120.1:p.Phe259Leu NC_000020.11:3918781:T:C p.(Phe259Leu) NC_000020.11:3918781:T:C p.(Phe259Leu) NC_000020.11:3918781:T:C Identity +NM_014510.3:c.13841C>T NP_055325.2:p.Ala4614Val NC_000007.14:82845475:G:A p.(Ala4614Val) NC_000007.14:82845475:G:A p.(Ala4614Val) NC_000007.14:82845475:G:A Identity +NM_001166108.2:c.3089T>C NP_001159580.1:p.Ile1030Thr NC_000004.12:168924284:T:C p.(Ile1030Thr) NC_000004.12:168924284:T:C p.(Ile1030Thr) NC_000004.12:168924284:T:C Identity +NM_001100112.2:c.2225T>C NP_001093582.1:p.Ile742Thr NC_000017.11:10533587:A:G p.(Ile742Thr) NC_000017.11:10533587:A:G p.(Ile742Thr) NC_000017.11:10533587:A:G Identity +NM_001039550.2:c.455C>G NP_001034639.1:p.Ser152Cys NC_000002.12:219283141:C:G p.(Ser152Cys) NC_000002.12:219283141:C:G p.(Ser152Cys) NC_000002.12:219283141:C:G Identity +NM_001326358.2:c.2996C>A NP_001313287.1:p.Ala999Asp NC_000016.10:77289301:G:T p.(Ala999Asp) NC_000016.10:77289301:G:T p.(Ala999Asp) NC_000016.10:77289301:G:T Identity +NM_033109.5:c.1355C>T NP_149100.2:p.Ala452Val NC_000002.12:55656216:G:A p.(Ala452Val) NC_000002.12:55656216:G:A p.(Ala452Val) NC_000002.12:55656216:G:A Identity +NM_021076.4:c.678G>T NP_066554.2:p.Glu226Asp NC_000022.11:29480939:G:T p.(Glu226Asp) NC_000022.11:29480939:G:T p.(Glu226Asp) NC_000022.11:29480939:G:T Identity +NM_000124.4:c.1672G>A NP_000115.1:p.Gly558Ser NC_000010.11:49500550:C:T p.(Gly558Ser) NC_000010.11:49500550:C:T p.(Gly558Ser) NC_000010.11:49500550:C:T Identity +NM_001128855.3:c.175G>A NP_001122327.1:p.Gly59Ser NC_000019.10:17338128:G:A p.(Gly59Ser) NC_000019.10:17338128:G:A p.(Gly59Ser) NC_000019.10:17338128:G:A Identity +NM_004369.4:c.2993C>T NP_004360.2:p.Ser998Leu NC_000002.12:237376848:G:A p.(Ser998Leu) NC_000002.12:237376848:G:A p.(Ser998Leu) NC_000002.12:237376848:G:A Identity +NM_001004426.3:c.1447A>T NP_001004426.1:p.Met483Leu NC_000022.11:38120891:T:A p.(Met483Leu) NC_000022.11:38120891:T:A p.(Met483Leu) NC_000022.11:38120891:T:A Identity +NM_033071.5:c.22001G>T NP_149062.2:p.Ser7334Ile NC_000006.12:152215037:C:A p.(Ser7334Ile) NC_000006.12:152215037:C:A p.(Ser7334Ile) NC_000006.12:152215037:C:A Identity +NM_000388.4:c.1776T>A NP_000379.3:p.Asn592Lys NC_000003.12:122283729:T:A p.(Asn592Lys) NC_000003.12:122283729:T:A p.(Asn592Lys) NC_000003.12:122283729:T:A Identity +NM_003906.5:c.3352A>G NP_003897.2:p.Met1118Val NC_000021.9:46261394:T:C p.(Met1118Val) NC_000021.9:46261394:T:C p.(Met1118Val) NC_000021.9:46261394:T:C Identity +NM_033087.4:c.764C>T NP_149078.1:p.Thr255Ile NC_000009.12:99218420:G:A p.(Thr255Ile) NC_000009.12:99218420:G:A p.(Thr255Ile) NC_000009.12:99218420:G:A Identity +NM_001276479.2:c.1307G>A NP_001263408.1:p.Arg436His NC_000019.10:5700795:C:T p.(Arg436His) NC_000019.10:5700795:C:T p.(Arg436His) NC_000019.10:5700795:C:T Identity +NM_001378454.1:c.10679T>G NP_001365383.1:p.Met3560Arg NC_000002.12:73572555:T:G p.(Met3560Arg) NC_000002.12:73572555:T:G p.(Met3560Arg) NC_000002.12:73572555:T:G Identity +NM_001350935.2:c.1862A>T NP_001337864.1:p.Asn621Ile NC_000012.12:122473527:T:A p.(Asn621Ile) NC_000012.12:122473527:T:A p.(Asn621Ile) NC_000012.12:122473527:T:A Identity +NM_002087.4:c.1712A>G NP_002078.1:p.Lys571Arg NC_000017.11:44352727:A:G p.(Lys571Arg) NC_000017.11:44352727:A:G p.(Lys571Arg) NC_000017.11:44352727:A:G Identity +NM_001170629.2:c.6595G>A NP_001164100.1:p.Asp2199Asn NC_000014.9:21392682:C:T p.(Asp2199Asn) NC_000014.9:21392682:C:T p.(Asp2199Asn) NC_000014.9:21392682:C:T Identity +NM_001141945.3:c.1084C>T NP_001135417.1:p.Gln362Ter NC_000010.11:88935272:G:A p.(Gln362Ter) NC_000010.11:88935272:G:A p.(Gln362Ter) NC_000010.11:88935272:G:A Identity +NM_001378454.1:c.2230T>G NP_001365383.1:p.Ser744Ala NC_000002.12:73448756:T:G p.(Ser744Ala) NC_000002.12:73448756:T:G p.(Ser744Ala) NC_000002.12:73448756:T:G Identity +NM_001366385.1:c.2928C>A NP_001353314.1:p.Ser976Arg NC_000017.11:80208257:C:A p.(Ser976Arg) NC_000017.11:80208257:C:A p.(Ser976Arg) NC_000017.11:80208257:C:A Identity +NM_001085049.3:c.313C>T NP_001078518.1:p.Arg105Cys NC_000003.12:138397442:C:T p.(Arg105Cys) NC_000003.12:138397442:C:T p.(Arg105Cys) NC_000003.12:138397442:C:T Identity +NM_001139490.1:c.1166T>A NP_001132962.1:p.Ile389Asn NC_000002.12:238348844:T:A p.(Ile389Asn) NC_000002.12:238348844:T:A p.(Ile389Asn) NC_000002.12:238348844:T:A Identity +NM_001163022.3:c.1459G>A NP_001156494.1:p.Val487Met NC_000020.11:21229099:G:A p.(Val487Met) NC_000020.11:21229099:G:A p.(Val487Met) NC_000020.11:21229099:G:A Identity +NM_000843.4:c.2402C>T NP_000834.2:p.Pro801Leu NC_000005.10:178982943:G:A p.(Pro801Leu) NC_000005.10:178982943:G:A p.(Pro801Leu) NC_000005.10:178982943:G:A Identity +NM_207346.3:c.909C>G NP_997229.2:p.Phe303Leu NC_000017.11:75521989:C:G p.(Phe303Leu) NC_000017.11:75521989:C:G p.(Phe303Leu) NC_000017.11:75521989:C:G Identity +NM_001318193.2:c.415A>C NP_001305122.2:p.Ile139Leu NC_000016.10:2043665:T:G p.(Ile139Leu) NC_000016.10:2043665:T:G p.(Ile139Leu) NC_000016.10:2043665:T:G Identity +NM_001318245.2:c.2232C>G NP_001305174.1:p.Ser744Arg NC_000022.11:25781753:C:G p.(Ser744Arg) NC_000022.11:25781753:C:G p.(Ser744Arg) NC_000022.11:25781753:C:G Identity +NM_152617.4:c.470A>G NP_689830.2:p.Glu157Gly NC_000003.12:196487486:T:C p.(Glu157Gly) NC_000003.12:196487486:T:C p.(Glu157Gly) NC_000003.12:196487486:T:C Identity +NM_000836.4:c.3113C>T NP_000827.2:p.Ala1038Val NC_000019.10:48443038:C:T p.(Ala1038Val) NC_000019.10:48443038:C:T p.(Ala1038Val) NC_000019.10:48443038:C:T Identity +NM_001197104.2:c.1031A>G NP_001184033.1:p.Asp344Gly NC_000011.10:118472189:A:G p.(Asp344Gly) NC_000011.10:118472189:A:G p.(Asp344Gly) NC_000011.10:118472189:A:G Identity +NM_003823.4:c.508C>G NP_003814.1:p.Pro170Ala NC_000020.11:63697410:C:G p.(Pro170Ala) NC_000020.11:63697410:C:G p.(Pro170Ala) NC_000020.11:63697410:C:G Identity +NM_001379141.1:c.2726C>T NP_001366070.1:p.Thr909Ile NC_000018.10:44952065:C:T p.(Thr909Ile) NC_000018.10:44952065:C:T p.(Thr909Ile) NC_000018.10:44952065:C:T Identity +NM_006059.4:c.3304C>T NP_006050.3:p.Arg1102Cys NC_000009.12:131072721:C:T p.(Arg1102Cys) NC_000009.12:131072721:C:T p.(Arg1102Cys) NC_000009.12:131072721:C:T Identity +NM_001029883.3:c.2074C>A NP_001025054.1:p.Pro692Thr NC_000002.12:29072187:G:T p.(Pro692Thr) NC_000002.12:29072187:G:T p.(Pro692Thr) NC_000002.12:29072187:G:T Identity +NM_000188.3:c.1636C>T NP_000179.2:p.Arg546Cys NC_000010.11:69384397:C:T p.(Arg546Cys) NC_000010.11:69384397:C:T p.(Arg546Cys) NC_000010.11:69384397:C:T Identity +NM_001100112.2:c.4573G>A NP_001093582.1:p.Gly1525Arg NC_000017.11:10525312:C:T p.(Gly1525Arg) NC_000017.11:10525312:C:T p.(Gly1525Arg) NC_000017.11:10525312:C:T Identity +NM_002234.4:c.690C>G NP_002225.2:p.Asn230Lys NC_000012.12:5044836:C:G p.(Asn230Lys) NC_000012.12:5044836:C:G p.(Asn230Lys) NC_000012.12:5044836:C:G Identity +NM_033071.5:c.1686A>C NP_149062.2:p.Gln562His NC_000006.12:152466045:T:G p.(Gln562His) NC_000006.12:152466045:T:G p.(Gln562His) NC_000006.12:152466045:T:G Identity +NM_003334.4:c.1516G>A NP_003325.2:p.Asp506Asn NC_000023.11:47203636:G:A p.(Asp506Asn) NC_000023.11:47203636:G:A p.(Asp506Asn) NC_000023.11:47203636:G:A Identity +NM_006269.2:c.5548C>T NP_006260.1:p.His1850Tyr NC_000008.11:54629429:C:T p.(His1850Tyr) NC_000008.11:54629429:C:T p.(His1850Tyr) NC_000008.11:54629429:C:T Identity +NM_001386500.1:c.4613G>A NP_001373429.1:p.Arg1538Gln NC_000001.11:11146748:C:T p.(Arg1538Gln) NC_000001.11:11146748:C:T p.(Arg1538Gln) NC_000001.11:11146748:C:T Identity +NM_022772.4:c.184A>G NP_073609.2:p.Met62Val NC_000011.10:720079:A:G p.(Met62Val) NC_000011.10:720079:A:G p.(Met62Val) NC_000011.10:720079:A:G Identity +NM_032043.3:c.271C>T NP_114432.2:p.His91Tyr NC_000017.11:61857165:G:A p.(His91Tyr) NC_000017.11:61857165:G:A p.(His91Tyr) NC_000017.11:61857165:G:A Identity +NM_000165.5:c.246C>G NP_000156.1:p.Ile82Met NC_000006.12:121447092:C:G p.(Ile82Met) NC_000006.12:121447092:C:G p.(Ile82Met) NC_000006.12:121447092:C:G Identity +NM_001407934.1:c.1625T>G NP_001394863.1:p.Leu542Arg NC_000017.11:43093638:A:C p.(Leu542Arg) NC_000017.11:43093638:A:C p.(Leu542Arg) NC_000017.11:43093638:A:C Identity +NM_001044385.3:c.851C>T NP_001037850.1:p.Thr284Ile NC_000002.12:201629247:G:A p.(Thr284Ile) NC_000002.12:201629247:G:A p.(Thr284Ile) NC_000002.12:201629247:G:A Identity +NM_000466.3:c.1099C>A NP_000457.1:p.Gln367Lys NC_000007.14:92517415:G:T p.(Gln367Lys) NC_000007.14:92517415:G:T p.(Gln367Lys) NC_000007.14:92517415:G:T Identity +NM_000751.3:c.2T>C NP_000742.1:p.Met1Thr NC_000002.12:232526216:T:C p.(Met1Thr) NC_000002.12:232526216:T:C p.Met1? NC_000002.12:232526216:T:C Identity +NM_001083962.2:c.1487G>C NP_001077431.1:p.Gly496Ala NC_000018.10:55232670:C:G p.(Gly496Ala) NC_000018.10:55232670:C:G p.(Gly496Ala) NC_000018.10:55232670:C:G Identity +NM_006059.4:c.506A>G NP_006050.3:p.Lys169Arg NC_000009.12:131026416:A:G p.(Lys169Arg) NC_000009.12:131026416:A:G p.(Lys169Arg) NC_000009.12:131026416:A:G Identity +NM_015841.4:c.1085G>A NP_056656.3:p.Arg362Lys NC_000001.11:154601556:C:T p.(Arg362Lys) NC_000001.11:154601556:C:T p.(Arg362Lys) NC_000001.11:154601556:C:T Identity +NM_001037343.2:c.2567A>T NP_001032420.1:p.Asp856Val NC_000023.11:18628440:A:T p.(Asp856Val) NC_000023.11:18628440:A:T p.(Asp856Val) NC_000023.11:18628440:A:T Identity +NM_000414.4:c.1655A>T NP_000405.1:p.Asp552Val NC_000005.10:119525997:A:T p.(Asp552Val) NC_000005.10:119525997:A:T p.(Asp552Val) NC_000005.10:119525997:A:T Identity +NM_001113178.3:c.2681C>A NP_001106649.1:p.Ser894Tyr NC_000016.10:69692508:C:A p.(Ser894Tyr) NC_000016.10:69692508:C:A p.(Ser894Tyr) NC_000016.10:69692508:C:A Identity +NM_024747.6:c.370G>T NP_079023.2:p.Gly124Trp NC_000010.11:102065843:G:T p.(Gly124Trp) NC_000010.11:102065843:G:T p.(Gly124Trp) NC_000010.11:102065843:G:T Identity +NM_001416202.1:c.682G>A NP_001403131.1:p.Val228Ile NC_000012.12:53055675:G:A p.(Val228Ile) NC_000012.12:53055675:G:A p.(Val228Ile) NC_000012.12:53055675:G:A Identity +NM_000310.4:c.862G>A NP_000301.1:p.Asp288Asn NC_000001.11:40074119:C:T p.(Asp288Asn) NC_000001.11:40074119:C:T p.(Asp288Asn) NC_000001.11:40074119:C:T Identity +NM_000920.4:c.1804T>C NP_000911.2:p.Phe602Leu NC_000011.10:66852459:A:G p.(Phe602Leu) NC_000011.10:66852459:A:G p.(Phe602Leu) NC_000011.10:66852459:A:G Identity +NM_001172895.1:c.353_354insT NP_001166366.1:p.Ile119fs NC_000007.14:116559196::T p.(Ile119HisfsTer8) NC_000007.14:116559195:C:T p.(Ile119HisfsTer8) NC_000007.14:116559196:CC:T Analogous +NM_006269.2:c.436G>C NP_006260.1:p.Ala146Pro NC_000008.11:54621401:G:C p.(Ala146Pro) NC_000008.11:54621401:G:C p.(Ala146Pro) NC_000008.11:54621401:G:C Identity +NM_001271933.2:c.1058A>G NP_001258862.1:p.Asp353Gly NC_000011.10:117371371:A:G p.(Asp353Gly) NC_000011.10:117371371:A:G p.(Asp353Gly) NC_000011.10:117371371:A:G Identity +NM_002234.4:c.1198C>G NP_002225.2:p.Arg400Gly NC_000012.12:5045344:C:G p.(Arg400Gly) NC_000012.12:5045344:C:G p.(Arg400Gly) NC_000012.12:5045344:C:G Identity +NM_212550.5:c.403G>C NP_997715.1:p.Ala135Pro NC_000019.10:45179698:G:C p.(Ala135Pro) NC_000019.10:45179698:G:C p.(Ala135Pro) NC_000019.10:45179698:G:C Identity +NM_001077516.2:c.331G>A NP_001070984.1:p.Glu111Lys NC_000006.12:33201575:G:A p.(Glu111Lys) NC_000006.12:33201575:G:A p.(Glu111Lys) NC_000006.12:33201575:G:A Identity +NM_002180.3:c.1664G>A NP_002171.2:p.Arg555Lys NC_000011.10:68935329:G:A p.(Arg555Lys) NC_000011.10:68935329:G:A p.(Arg555Lys) NC_000011.10:68935329:G:A Identity +NM_001080449.3:c.931C>T NP_001073918.2:p.Arg311Cys NC_000010.11:68450035:G:A p.(Arg311Cys) NC_000010.11:68450035:G:A p.(Arg311Cys) NC_000010.11:68450035:G:A Identity +NM_001386500.1:c.1183T>G NP_001373429.1:p.Leu395Val NC_000001.11:11247666:A:C p.(Leu395Val) NC_000001.11:11247666:A:C p.(Leu395Val) NC_000001.11:11247666:A:C Identity +NM_001035507.3:c.721G>A NP_001030584.1:p.Gly241Ser NC_000002.12:27054798:G:A p.(Gly241Ser) NC_000002.12:27054798:G:A p.(Gly241Ser) NC_000002.12:27054798:G:A Identity +NM_005198.5:c.910C>A NP_005189.2:p.Pro304Thr NC_000022.11:50579990:G:T p.(Pro304Thr) NC_000022.11:50579990:G:T p.(Pro304Thr) NC_000022.11:50579990:G:T Identity +NM_001029883.3:c.1588A>G NP_001025054.1:p.Arg530Gly NC_000002.12:29072673:T:C p.(Arg530Gly) NC_000002.12:29072673:T:C p.(Arg530Gly) NC_000002.12:29072673:T:C Identity +NM_001283106.3:c.37G>C NP_001270035.1:p.Val13Leu NC_000022.11:20036834:G:C p.(Val13Leu) NC_000022.11:20036834:G:C p.(Val13Leu) NC_000022.11:20036834:G:C Identity +NM_004959.5:c.102G>C NP_004950.2:p.Lys34Asn NC_000009.12:124503293:C:G p.(Lys34Asn) NC_000009.12:124503293:C:G p.(Lys34Asn) NC_000009.12:124503293:C:G Identity +NM_001193644.1:c.61C>G NP_001180573.1:p.Leu21Val NC_000001.11:160285063:G:C p.(Leu21Val) NC_000001.11:160285063:G:C p.(Leu21Val) NC_000001.11:160285063:G:C Identity +NM_002618.4:c.1132G>C NP_002609.1:p.Glu378Gln NC_000002.12:61048689:G:C p.(Glu378Gln) NC_000002.12:61048689:G:C p.(Glu378Gln) NC_000002.12:61048689:G:C Identity +NM_014639.4:c.3985C>G NP_055454.1:p.Leu1329Val NC_000005.10:95484791:G:C p.(Leu1329Val) NC_000005.10:95484791:G:C p.(Leu1329Val) NC_000005.10:95484791:G:C Identity +NM_018010.4:c.773A>G NP_060480.1:p.Asn258Ser NC_000003.12:108191524:T:C p.(Asn258Ser) NC_000003.12:108191524:T:C p.(Asn258Ser) NC_000003.12:108191524:T:C Identity +NM_001136029.4:c.4688T>A NP_001129501.1:p.Leu1563Gln NC_000022.11:31906399:T:A p.(Leu1563Gln) NC_000022.11:31906399:T:A p.(Leu1563Gln) NC_000022.11:31906399:T:A Identity +NM_001081.4:c.5357A>C NP_001072.2:p.Glu1786Ala NC_000010.11:16940222:T:G p.(Glu1786Ala) NC_000010.11:16940222:T:G p.(Glu1786Ala) NC_000010.11:16940222:T:G Identity +NM_001271667.2:c.198C>G NP_001258596.1:p.Cys66Trp NC_000006.12:15615313:G:C p.(Cys66Trp) NC_000006.12:15615313:G:C p.(Cys66Trp) NC_000006.12:15615313:G:C Identity +NM_001199771.3:c.56G>A NP_001186700.1:p.Arg19Lys NC_000012.12:55721239:G:A p.(Arg19Lys) NC_000012.12:55721239:G:A p.(Arg19Lys) NC_000012.12:55721239:G:A Identity +NM_000171.4:c.92C>T NP_000162.2:p.Ser31Phe NC_000005.10:151892402:G:A p.(Ser31Phe) NC_000005.10:151892402:G:A p.(Ser31Phe) NC_000005.10:151892402:G:A Identity +NM_004260.4:c.2641G>A NP_004251.4:p.Glu881Lys NC_000008.11:144512960:C:T p.(Glu881Lys) NC_000008.11:144512960:C:T p.(Glu881Lys) NC_000008.11:144512960:C:T Identity +NM_002238.4:c.1020G>T NP_002229.1:p.Lys340Asn NC_000001.11:210920000:C:A p.(Lys340Asn) NC_000001.11:210920000:C:A p.(Lys340Asn) NC_000001.11:210920000:C:A Identity +NM_001160147.2:c.1763A>G NP_001153619.1:p.Asp588Gly NC_000014.9:53062966:T:C p.(Asp588Gly) NC_000014.9:53062966:T:C p.(Asp588Gly) NC_000014.9:53062966:T:C Identity +NM_001079802.2:c.707T>G NP_001073270.1:p.Met236Arg NC_000009.12:105607877:T:G p.(Met236Arg) NC_000009.12:105607877:T:G p.(Met236Arg) NC_000009.12:105607877:T:G Identity +NM_001308164.2:c.491G>A NP_001295093.1:p.Arg164His NC_000003.12:158646865:G:A p.(Arg164His) NC_000003.12:158646865:G:A p.(Arg164His) NC_000003.12:158646865:G:A Identity +NM_001289067.2:c.1257T>G NP_001275996.1:p.Ser419Arg NC_000010.11:94582989:T:G p.(Ser419Arg) NC_000010.11:94582989:T:G p.(Ser419Arg) NC_000010.11:94582989:T:G Identity +NM_001039210.5:c.35G>A NP_001034299.3:p.Ser12Asn NC_000023.11:111681252:G:A p.(Ser12Asn) NC_000023.11:111681252:G:A p.(Ser12Asn) NC_000023.11:111681252:G:A Identity +NM_000433.4:c.1242G>T NP_000424.2:p.Trp414Cys NC_000001.11:183563242:C:A p.(Trp414Cys) NC_000001.11:183563242:C:A p.(Trp414Cys) NC_000001.11:183563242:C:A Identity +NM_001170629.2:c.6166C>T NP_001164100.1:p.Arg2056Trp NC_000014.9:21393628:G:A p.(Arg2056Trp) NC_000014.9:21393628:G:A p.(Arg2056Trp) NC_000014.9:21393628:G:A Identity +NM_001197104.2:c.172C>T NP_001184033.1:p.Pro58Ser NC_000011.10:118436683:C:T p.(Pro58Ser) NC_000011.10:118436683:C:T p.(Pro58Ser) NC_000011.10:118436683:C:T Identity +NM_001042572.3:c.593A>G NP_001036037.1:p.Gln198Arg NC_000015.10:92939618:A:G p.(Gln198Arg) NC_000015.10:92939618:A:G p.(Gln198Arg) NC_000015.10:92939618:A:G Identity +NM_139057.4:c.650G>A NP_620688.2:p.Arg217Gln NC_000015.10:100281367:C:T p.(Arg217Gln) NC_000015.10:100281367:C:T p.(Arg217Gln) NC_000015.10:100281367:C:T Identity +NM_005198.5:c.385C>T NP_005189.2:p.Arg129Trp NC_000022.11:50581810:G:A p.(Arg129Trp) NC_000022.11:50581810:G:A p.(Arg129Trp) NC_000022.11:50581810:G:A Identity +NM_001077182.3:c.296G>A NP_001070650.1:p.Arg99His NC_000017.11:81528826:G:A p.(Arg99His) NC_000017.11:81528826:G:A p.(Arg99His) NC_000017.11:81528826:G:A Identity +NM_001324112.2:c.8_10del NP_001311041.1:p.Gly3del NC_000008.11:64798577:CTCCT:CT p.(Gly3del) NC_000008.11:64798577:CTCCT:CT p.(Gly3del) NC_000008.11:64798577:CTC: Identity +NM_000787.4:c.274C>T NP_000778.3:p.Arg92Cys NC_000009.12:133636644:C:T p.(Arg92Cys) NC_000009.12:133636644:C:T p.(Arg92Cys) NC_000009.12:133636644:C:T Identity +NM_001105540.2:c.3346G>T NP_001099010.1:p.Ala1116Ser NC_000011.10:46379938:G:T p.(Ala1116Ser) NC_000011.10:46379938:G:T p.(Ala1116Ser) NC_000011.10:46379938:G:T Identity +NM_198525.3:c.2083C>T NP_940927.2:p.Pro695Ser NC_000015.10:89645120:G:A p.(Pro695Ser) NC_000015.10:89645120:G:A p.(Pro695Ser) NC_000015.10:89645120:G:A Identity +NM_001008844.3:c.5921T>C NP_001008844.1:p.Met1974Thr NC_000006.12:7584979:T:C p.(Met1974Thr) NC_000006.12:7584979:T:C p.(Met1974Thr) NC_000006.12:7584979:T:C Identity +NM_001371411.1:c.1070C>G NP_001358340.1:p.Ala357Gly NC_000002.12:227695990:G:C p.(Ala357Gly) NC_000002.12:227695990:G:C p.(Ala357Gly) NC_000002.12:227695990:G:C Identity +NM_001160302.2:c.2849A>G NP_001153774.1:p.Asn950Ser NC_000021.9:32653312:T:C p.(Asn950Ser) NC_000021.9:32653312:T:C p.(Asn950Ser) NC_000021.9:32653312:T:C Identity +NM_003906.5:c.350G>C NP_003897.2:p.Ser117Thr NC_000021.9:46284936:C:G p.(Ser117Thr) NC_000021.9:46284936:C:G p.(Ser117Thr) NC_000021.9:46284936:C:G Identity +NM_001277126.2:c.1743G>T NP_001264055.1:p.Trp581Cys NC_000019.10:53809915:C:A p.(Trp581Cys) NC_000019.10:53809915:C:A p.(Trp581Cys) NC_000019.10:53809915:C:A Identity +NM_001317163.2:c.125C>G NP_001304092.1:p.Ser42Cys NC_000009.12:121046341:G:C p.(Ser42Cys) NC_000009.12:121046341:G:C p.(Ser42Cys) NC_000009.12:121046341:G:C Identity +NM_000391.4:c.1461G>C NP_000382.3:p.Leu487Phe NC_000011.10:6614955:C:G p.(Leu487Phe) NC_000011.10:6614955:C:G p.(Leu487Phe) NC_000011.10:6614955:C:G Identity +NM_001271429.2:c.1105A>G NP_001258358.1:p.Ile369Val NC_000001.11:19238057:T:C p.(Ile369Val) NC_000001.11:19238057:T:C p.(Ile369Val) NC_000001.11:19238057:T:C Identity +NM_018344.6:c.379A>G NP_060814.4:p.Asn127Asp NC_000010.11:71344286:A:G p.(Asn127Asp) NC_000010.11:71344286:A:G p.(Asn127Asp) NC_000010.11:71344286:A:G Identity +NM_001145809.2:c.158G>A NP_001139281.1:p.Arg53Gln NC_000019.10:50210522:G:A p.(Arg53Gln) NC_000019.10:50210522:G:A p.(Arg53Gln) NC_000019.10:50210522:G:A Identity +NM_001379500.1:c.767G>C NP_001366429.1:p.Gly256Ala NC_000021.9:45475503:G:C p.(Gly256Ala) NC_000021.9:45475503:G:C p.(Gly256Ala) NC_000021.9:45475503:G:C Identity +NM_020919.4:c.4878T>A NP_065970.2:p.Asp1626Glu NC_000002.12:201704178:A:T p.(Asp1626Glu) NC_000002.12:201704178:A:T p.(Asp1626Glu) NC_000002.12:201704178:A:T Identity +NM_001320632.2:c.57G>C NP_001307561.1:p.Gln19His NC_000002.12:127106886:C:G p.(Gln19His) NC_000002.12:127106886:C:G p.(Gln19His) NC_000002.12:127106886:C:G Identity +NM_001540.5:c.385G>A NP_001531.1:p.Asp129Asn NC_000007.14:76303821:G:A p.(Asp129Asn) NC_000007.14:76303821:G:A p.(Asp129Asn) NC_000007.14:76303821:G:A Identity +NM_005732.4:c.2057G>C NP_005723.2:p.Arg686Thr NC_000005.10:132595659:G:C p.(Arg686Thr) NC_000005.10:132595659:G:C p.(Arg686Thr) NC_000005.10:132595659:G:C Identity +NM_172364.5:c.1636C>T NP_758952.4:p.Arg546Trp NC_000012.12:1878963:G:A p.(Arg546Trp) NC_000012.12:1878963:G:A p.(Arg546Trp) NC_000012.12:1878963:G:A Identity +NM_001277155.3:c.602T>C NP_001264084.1:p.Leu201Pro NC_000001.11:235484397:A:G p.(Leu201Pro) NC_000001.11:235484397:A:G p.(Leu201Pro) NC_000001.11:235484397:A:G Identity +NM_001363671.2:c.658G>C NP_001350600.1:p.Glu220Gln NC_000007.14:100104903:G:C p.(Glu220Gln) NC_000007.14:100104903:G:C p.(Glu220Gln) NC_000007.14:100104903:G:C Identity +NM_014321.4:c.177G>T NP_055136.1:p.Met59Ile NC_000016.10:46691101:G:T p.(Met59Ile) NC_000016.10:46691101:G:T p.(Met59Ile) NC_000016.10:46691101:G:T Identity +NM_000536.4:c.1163C>A NP_000527.2:p.Ala388Glu NC_000011.10:36593005:G:T p.(Ala388Glu) NC_000011.10:36593005:G:T p.(Ala388Glu) NC_000011.10:36593005:G:T Identity +NM_000170.3:c.2819C>A NP_000161.2:p.Pro940His NC_000009.12:6536082:G:T p.(Pro940His) NC_000009.12:6536082:G:T p.(Pro940His) NC_000009.12:6536082:G:T Identity +NM_001190709.2:c.4126C>G NP_001177638.1:p.Pro1376Ala NC_000001.11:102898670:G:C p.(Pro1376Ala) NC_000001.11:102898670:G:C p.(Pro1376Ala) NC_000001.11:102898670:G:C Identity +NM_001365819.1:c.1367C>T NP_001352748.1:p.Ala456Val NC_000022.11:50464885:G:A p.(Ala456Val) NC_000022.11:50464885:G:A p.(Ala456Val) NC_000022.11:50464885:G:A Identity +NM_005055.5:c.725G>C NP_005046.2:p.Arg242Pro NC_000011.10:47441886:C:G p.(Arg242Pro) NC_000011.10:47441886:C:G p.(Arg242Pro) NC_000011.10:47441886:C:G Identity +NM_001127487.2:c.1372C>A NP_001120959.1:p.Pro458Thr NC_000007.14:128838763:C:A p.(Pro458Thr) NC_000007.14:128838763:C:A p.(Pro458Thr) NC_000007.14:128838763:C:A Identity +NM_001306079.2:c.3473G>A NP_001293008.1:p.Arg1158His NC_000002.12:27234560:G:A p.(Arg1158His) NC_000002.12:27234560:G:A p.(Arg1158His) NC_000002.12:27234560:G:A Identity +NM_001282368.2:c.1607G>C NP_001269297.1:p.Arg536Pro NC_000006.12:75947516:C:G p.(Arg536Pro) NC_000006.12:75947516:C:G p.(Arg536Pro) NC_000006.12:75947516:C:G Identity +NM_001256850.1:c.62058T>G NP_001243779.1:p.Tyr20686Ter NC_000002.12:178580397:A:C p.(Tyr20686Ter) NC_000002.12:178580397:A:C p.(Tyr20686Ter) NC_000002.12:178580397:A:C Identity +NM_001144769.5:c.13726G>A NP_001138241.1:p.Ala4576Thr NC_000006.12:56497866:C:T p.(Ala4576Thr) NC_000006.12:56497866:C:T p.(Ala4576Thr) NC_000006.12:56497866:C:T Identity +NM_001291285.3:c.7454C>T NP_001278214.1:p.Ser2485Phe NC_000004.12:125448463:C:T p.(Ser2485Phe) NC_000004.12:125448463:C:T p.(Ser2485Phe) NC_000004.12:125448463:C:T Identity +NM_173630.4:c.71G>C NP_775901.3:p.Ser24Thr NC_000018.10:70205275:C:G p.(Ser24Thr) NC_000018.10:70205275:C:G p.(Ser24Thr) NC_000018.10:70205275:C:G Identity +NM_001308133.2:c.1342C>T NP_001295062.1:p.Arg448Cys NC_000014.9:45159118:C:T p.(Arg448Cys) NC_000014.9:45159118:C:T p.(Arg448Cys) NC_000014.9:45159118:C:T Identity +NM_000629.3:c.370C>T NP_000620.2:p.Arg124Cys NC_000021.9:33341167:C:T p.(Arg124Cys) NC_000021.9:33341167:C:T p.(Arg124Cys) NC_000021.9:33341167:C:T Identity +NM_001139490.1:c.235G>A NP_001132962.1:p.Val79Met NC_000002.12:238325850:G:A p.(Val79Met) NC_000002.12:238325850:G:A p.(Val79Met) NC_000002.12:238325850:G:A Identity +NM_001271427.2:c.1015C>T NP_001258356.1:p.Arg339Trp NC_000001.11:19239241:G:A p.(Arg339Trp) NC_000001.11:19239241:G:A p.(Arg339Trp) NC_000001.11:19239241:G:A Identity +NM_001257096.2:c.55G>A NP_001244025.1:p.Ala19Thr NC_000020.11:21705766:G:A p.(Ala19Thr) NC_000020.11:21705766:G:A p.(Ala19Thr) NC_000020.11:21705766:G:A Identity +NM_000283.4:c.703C>T NP_000274.3:p.Arg235Cys NC_000004.12:635960:C:T p.(Arg235Cys) NC_000004.12:635960:C:T p.(Arg235Cys) NC_000004.12:635960:C:T Identity +NM_145290.4:c.817A>G NP_660333.2:p.Met273Val NC_000004.12:22442752:T:C p.(Met273Val) NC_000004.12:22442752:T:C p.(Met273Val) NC_000004.12:22442752:T:C Identity +NM_001371246.1:c.5731A>G NP_001358175.1:p.Ile1911Val NC_000002.12:165389536:A:G p.(Ile1911Val) NC_000002.12:165389536:A:G p.(Ile1911Val) NC_000002.12:165389536:A:G Identity +NM_005198.5:c.451C>T NP_005189.2:p.Arg151Trp NC_000022.11:50581549:G:A p.(Arg151Trp) NC_000022.11:50581549:G:A p.(Arg151Trp) NC_000022.11:50581549:G:A Identity +NM_133497.4:c.1577A>C NP_598004.1:p.Lys526Thr NC_000009.12:2729665:A:C p.(Lys526Thr) NC_000009.12:2729665:A:C p.(Lys526Thr) NC_000009.12:2729665:A:C Identity +NM_001281737.2:c.941A>G NP_001268666.1:p.Tyr314Cys NC_000004.12:158699095:A:G p.(Tyr314Cys) NC_000004.12:158699095:A:G p.(Tyr314Cys) NC_000004.12:158699095:A:G Identity +NM_001256850.1:c.35026G>C NP_001243779.1:p.Val11676Leu NC_000002.12:178651452:C:G p.(Val11676Leu) NC_000002.12:178651452:C:G p.(Val11676Leu) NC_000002.12:178651452:C:G Identity +NM_005359.6:c.622G>A NP_005350.1:p.Ala208Thr NC_000018.10:51054947:G:A p.(Ala208Thr) NC_000018.10:51054947:G:A p.(Ala208Thr) NC_000018.10:51054947:G:A Identity +NM_006129.5:c.2383G>A NP_006120.1:p.Glu795Lys NC_000008.11:22207323:G:A p.(Glu795Lys) NC_000008.11:22207323:G:A p.(Glu795Lys) NC_000008.11:22207323:G:A Identity +NM_004260.4:c.655C>T NP_004251.4:p.Leu219Phe NC_000008.11:144516463:G:A p.(Leu219Phe) NC_000008.11:144516463:G:A p.(Leu219Phe) NC_000008.11:144516463:G:A Identity +NM_001306079.2:c.1181G>A NP_001293008.1:p.Arg394Gln NC_000002.12:27224416:G:A p.(Arg394Gln) NC_000002.12:27224416:G:A p.(Arg394Gln) NC_000002.12:27224416:G:A Identity +NM_001170794.2:c.1081C>A NP_001164265.1:p.Gln361Lys NC_000006.12:89951024:G:T p.(Gln361Lys) NC_000006.12:89951024:G:T p.(Gln361Lys) NC_000006.12:89951024:G:T Identity +NM_016151.4:c.2339A>G NP_057235.2:p.Gln780Arg NC_000016.10:29986610:A:G p.(Gln780Arg) NC_000016.10:29986610:A:G p.(Gln780Arg) NC_000016.10:29986610:A:G Identity +NM_001166292.2:c.2017C>T NP_001159764.1:p.Arg673Cys NC_000001.11:44827883:G:A p.(Arg673Cys) NC_000001.11:44827883:G:A p.(Arg673Cys) NC_000001.11:44827883:G:A Identity +NM_001165967.2:c.409C>G NP_001159439.1:p.Arg137Gly NC_000017.11:8121854:G:C p.(Arg137Gly) NC_000017.11:8121854:G:C p.(Arg137Gly) NC_000017.11:8121854:G:C Identity +NM_001290307.3:c.1783G>T NP_001277236.1:p.Val595Leu NC_000005.10:138925290:G:T p.(Val595Leu) NC_000005.10:138925290:G:T p.(Val595Leu) NC_000005.10:138925290:G:T Identity +NM_001130103.2:c.2107C>T NP_001123575.1:p.Pro703Ser NC_000010.11:69952962:C:T p.(Pro703Ser) NC_000010.11:69952962:C:T p.(Pro703Ser) NC_000010.11:69952962:C:T Identity +NM_001002019.3:c.584G>A NP_001002019.1:p.Arg195His NC_000012.12:131941414:G:A p.(Arg195His) NC_000012.12:131941414:G:A p.(Arg195His) NC_000012.12:131941414:G:A Identity +NM_000520.6:c.1424C>G NP_000511.2:p.Pro475Arg NC_000015.10:72345547:G:C p.(Pro475Arg) NC_000015.10:72345547:G:C p.(Pro475Arg) NC_000015.10:72345547:G:C Identity +NM_001318381.2:c.484C>T NP_001305310.1:p.Pro162Ser NC_000009.12:100240215:C:T p.(Pro162Ser) NC_000009.12:100240215:C:T p.(Pro162Ser) NC_000009.12:100240215:C:T Identity +NM_001385907.1:c.1011G>C NP_001372836.1:p.Glu337Asp NC_000009.12:32488139:C:G p.(Glu337Asp) NC_000009.12:32488139:C:G p.(Glu337Asp) NC_000009.12:32488139:C:G Identity +NM_001013838.3:c.2977A>G NP_001013860.1:p.Ser993Gly NC_000016.10:67653110:A:G p.(Ser993Gly) NC_000016.10:67653110:A:G p.(Ser993Gly) NC_000016.10:67653110:A:G Identity +NM_000285.4:c.563C>T NP_000276.2:p.Thr188Met NC_000019.10:33464047:G:A p.(Thr188Met) NC_000019.10:33464047:G:A p.(Thr188Met) NC_000019.10:33464047:G:A Identity +NM_033100.4:c.2258T>A NP_149091.1:p.Ile753Asn NC_000010.11:84214298:T:A p.(Ile753Asn) NC_000010.11:84214298:T:A p.(Ile753Asn) NC_000010.11:84214298:T:A Identity +NM_001113378.2:c.1138C>G NP_001106849.1:p.Gln380Glu NC_000015.10:89276735:C:G p.(Gln380Glu) NC_000015.10:89276735:C:G p.(Gln380Glu) NC_000015.10:89276735:C:G Identity +NM_006343.3:c.592C>T NP_006334.2:p.His198Tyr NC_000002.12:111947401:C:T p.(His198Tyr) NC_000002.12:111947401:C:T p.(His198Tyr) NC_000002.12:111947401:C:T Identity +NM_153240.5:c.1541A>G NP_694972.3:p.Asn514Ser NC_000003.12:132701516:T:C p.(Asn514Ser) NC_000003.12:132701516:T:C p.(Asn514Ser) NC_000003.12:132701516:T:C Identity +NM_001018041.2:c.539T>C NP_001018051.1:p.Leu180Pro NC_000006.12:145635423:A:G p.(Leu180Pro) NC_000006.12:145635423:A:G p.(Leu180Pro) NC_000006.12:145635423:A:G Identity +NM_021116.4:c.543C>A NP_066939.1:p.Ser181Arg NC_000007.14:45575085:C:A p.(Ser181Arg) NC_000007.14:45575085:C:A p.(Ser181Arg) NC_000007.14:45575085:C:A Identity +NM_001365951.3:c.5156C>T NP_001352880.1:p.Ala1719Val NC_000001.11:10374912:C:T p.(Ala1719Val) NC_000001.11:10374912:C:T p.(Ala1719Val) NC_000001.11:10374912:C:T Identity +NM_000466.3:c.853A>G NP_000457.1:p.Asn285Asp NC_000007.14:92517661:T:C p.(Asn285Asp) NC_000007.14:92517661:T:C p.(Asn285Asp) NC_000007.14:92517661:T:C Identity +NM_025114.4:c.385A>G NP_079390.3:p.Arg129Gly NC_000012.12:88136698:T:C p.(Arg129Gly) NC_000012.12:88136698:T:C p.(Arg129Gly) NC_000012.12:88136698:T:C Identity +NM_001193416.3:c.1816G>A NP_001180345.1:p.Gly606Ser NC_000023.11:41347360:G:A p.(Gly606Ser) NC_000023.11:41347360:G:A p.(Gly606Ser) NC_000023.11:41347360:G:A Identity +NM_004370.6:c.5656G>C NP_004361.3:p.Glu1886Gln NC_000006.12:75133865:C:G p.(Glu1886Gln) NC_000006.12:75133865:C:G p.(Glu1886Gln) NC_000006.12:75133865:C:G Identity +NM_001166102.2:c.1079G>T NP_001159574.1:p.Arg360Leu NC_000011.10:67611921:G:T p.(Arg360Leu) NC_000011.10:67611921:G:T p.(Arg360Leu) NC_000011.10:67611921:G:T Identity +NM_000176.3:c.734G>A NP_000167.1:p.Cys245Tyr NC_000005.10:143400105:C:T p.(Cys245Tyr) NC_000005.10:143400105:C:T p.(Cys245Tyr) NC_000005.10:143400105:C:T Identity +NM_001100112.2:c.571C>T NP_001093582.1:p.Arg191Cys NC_000017.11:10543978:G:A p.(Arg191Cys) NC_000017.11:10543978:G:A p.(Arg191Cys) NC_000017.11:10543978:G:A Identity +NM_001037343.2:c.530A>G NP_001032420.1:p.Tyr177Cys NC_000023.11:18584328:A:G p.(Tyr177Cys) NC_000023.11:18584328:A:G p.(Tyr177Cys) NC_000023.11:18584328:A:G Identity +NM_001130438.3:c.7072C>T NP_001123910.1:p.Arg2358Cys NC_000009.12:128632629:C:T p.(Arg2358Cys) NC_000009.12:128632629:C:T p.(Arg2358Cys) NC_000009.12:128632629:C:T Identity +NM_001127396.3:c.866G>A NP_001120868.1:p.Arg289His NC_000019.10:7642508:G:A p.(Arg289His) NC_000019.10:7642508:G:A p.(Arg289His) NC_000019.10:7642508:G:A Identity +NM_001126054.3:c.2057A>G NP_001119526.1:p.Lys686Arg NC_000023.11:41542719:T:C p.(Lys686Arg) NC_000023.11:41542719:T:C p.(Lys686Arg) NC_000023.11:41542719:T:C Identity +NM_000505.4:c.1013C>T NP_000496.2:p.Pro338Leu NC_000005.10:177404200:G:A p.(Pro338Leu) NC_000005.10:177404200:G:A p.(Pro338Leu) NC_000005.10:177404200:G:A Identity +NM_001304482.2:c.4259C>T NP_001291411.1:p.Pro1420Leu NC_000003.12:47412910:C:T p.(Pro1420Leu) NC_000003.12:47412910:C:T p.(Pro1420Leu) NC_000003.12:47412910:C:T Identity +NM_001164317.2:c.6253G>A NP_001157789.1:p.Asp2085Asn NC_000003.12:58149917:G:A p.(Asp2085Asn) NC_000003.12:58149917:G:A p.(Asp2085Asn) NC_000003.12:58149917:G:A Identity +NM_001372.4:c.9699T>G NP_001363.2:p.Ile3233Met NC_000017.11:11854193:T:G p.(Ile3233Met) NC_000017.11:11854193:T:G p.(Ile3233Met) NC_000017.11:11854193:T:G Identity +NM_001018041.2:c.335A>G NP_001018051.1:p.Tyr112Cys NC_000006.12:145686262:T:C p.(Tyr112Cys) NC_000006.12:145686262:T:C p.(Tyr112Cys) NC_000006.12:145686262:T:C Identity +NM_024753.5:c.2698T>A NP_079029.3:p.Tyr900Asn NC_000002.12:165901780:A:T p.(Tyr900Asn) NC_000002.12:165901780:A:T p.(Tyr900Asn) NC_000002.12:165901780:A:T Identity +NM_000180.4:c.323C>T NP_000171.1:p.Pro108Leu NC_000017.11:8003369:C:T p.(Pro108Leu) NC_000017.11:8003369:C:T p.(Pro108Leu) NC_000017.11:8003369:C:T Identity +NM_001190458.2:c.4646C>T NP_001177387.1:p.Ala1549Val NC_000009.12:434841:C:T p.(Ala1549Val) NC_000009.12:434841:C:T p.(Ala1549Val) NC_000009.12:434841:C:T Identity +NM_001171930.2:c.3038G>A NP_001165401.1:p.Arg1013Gln NC_000010.11:71706980:G:A p.(Arg1013Gln) NC_000010.11:71706980:G:A p.(Arg1013Gln) NC_000010.11:71706980:G:A Identity +NM_001165963.4:c.4108G>C NP_001159435.1:p.Ala1370Pro NC_000002.12:166002647:C:G p.(Ala1370Pro) NC_000002.12:166002647:C:G p.(Ala1370Pro) NC_000002.12:166002647:C:G Identity +NM_001943.5:c.1784A>G NP_001934.2:p.His595Arg NC_000018.10:31538882:A:G p.(His595Arg) NC_000018.10:31538882:A:G p.(His595Arg) NC_000018.10:31538882:A:G Identity +NM_001282424.3:c.139_143dup NP_001269353.2:p.Ile48fs NC_000012.12:8846148:ATGCCAT:ATGCCATGCCAT p.(Ile48MetfsTer10) NC_000012.12:8846148:ATGCCAT:ATGCCATGCCAT p.(Ile48MetfsTer10) ERR:SPDI Analogous +NM_015932.6:c.95G>A NP_057016.1:p.Arg32Gln NC_000013.11:28662500:G:A p.(Arg32Gln) NC_000013.11:28662500:G:A p.(Arg32Gln) NC_000013.11:28662500:G:A Identity +NM_001007565.2:c.401A>G NP_001007566.1:p.Asn134Ser NC_000003.12:100728843:A:G p.(Asn134Ser) NC_000003.12:100728843:A:G p.(Asn134Ser) NC_000003.12:100728843:A:G Identity +NM_001301012.2:c.972A>T NP_001287941.1:p.Glu324Asp NC_000006.12:133483057:A:T p.(Glu324Asp) NC_000006.12:133483057:A:T p.(Glu324Asp) NC_000006.12:133483057:A:T Identity +NM_001035235.4:c.373A>G NP_001030312.3:p.Ile125Val NC_000005.10:140551150:T:C p.(Ile125Val) NC_000005.10:140551150:T:C p.(Ile125Val) NC_000005.10:140551150:T:C Identity +NM_001034850.3:c.1311_1312dup NP_001030022.1:p.Gln438fs NC_000005.10:16474922:GAGA:GAGAGA p.(Gln438LeufsTer96) NC_000005.10:16474922:GAGA:GAGAGA p.(Gln438LeufsTer96) ERR:SPDI Analogous +NM_014862.4:c.1222C>T NP_055677.3:p.Arg408Trp NC_000015.10:80563144:C:T p.(Arg408Trp) NC_000015.10:80563144:C:T p.(Arg408Trp) NC_000015.10:80563144:C:T Identity +NM_001282279.2:c.727C>T NP_001269208.1:p.Gln243Ter NC_000017.11:81933353:G:A p.(Gln243Ter) NC_000017.11:81933353:G:A p.(Gln243Ter) NC_000017.11:81933353:G:A Identity +NM_000321.3:c.841C>T NP_000312.2:p.His281Tyr NC_000013.11:48362936:C:T p.(His281Tyr) NC_000013.11:48362936:C:T p.(His281Tyr) NC_000013.11:48362936:C:T Identity +NM_005996.4:c.1628C>T NP_005987.3:p.Ser543Phe NC_000012.12:114674246:G:A p.(Ser543Phe) NC_000012.12:114674246:G:A p.(Ser543Phe) NC_000012.12:114674246:G:A Identity +NM_001145661.2:c.968A>G NP_001139133.1:p.His323Arg NC_000003.12:128483908:T:C p.(His323Arg) NC_000003.12:128483908:T:C p.(His323Arg) NC_000003.12:128483908:T:C Identity +NM_139058.3:c.1546G>C NP_620689.1:p.Ala516Pro NC_000023.11:25004812:C:G p.(Ala516Pro) NC_000023.11:25004812:C:G p.(Ala516Pro) NC_000023.11:25004812:C:G Identity +NM_001127649.3:c.764G>A NP_001121121.1:p.Ser255Asn NC_000022.11:18085207:G:A p.(Ser255Asn) NC_000022.11:18085207:G:A p.(Ser255Asn) NC_000022.11:18085207:G:A Identity +NM_001122957.4:c.500C>A NP_001116429.1:p.Thr167Asn NC_000016.10:31110280:C:A p.(Thr167Asn) NC_000016.10:31110280:C:A p.(Thr167Asn) NC_000016.10:31110280:C:A Identity +NM_004370.6:c.6910C>T NP_004361.3:p.Pro2304Ser NC_000006.12:75123365:G:A p.(Pro2304Ser) NC_000006.12:75123365:G:A p.(Pro2304Ser) NC_000006.12:75123365:G:A Identity +NM_004525.3:c.6698T>C NP_004516.2:p.Ile2233Thr NC_000002.12:169207021:A:G p.(Ile2233Thr) NC_000002.12:169207021:A:G p.(Ile2233Thr) NC_000002.12:169207021:A:G Identity +NM_000721.4:c.241T>C NP_000712.2:p.Tyr81His NC_000001.11:181483984:T:C p.(Tyr81His) NC_000001.11:181483984:T:C p.(Tyr81His) NC_000001.11:181483984:T:C Identity +NM_004453.4:c.154G>A NP_004444.2:p.Asp52Asn NC_000004.12:158680585:G:A p.(Asp52Asn) NC_000004.12:158680585:G:A p.(Asp52Asn) NC_000004.12:158680585:G:A Identity +NM_001369.3:c.3314A>G NP_001360.1:p.Asn1105Ser NC_000005.10:13876765:T:C p.(Asn1105Ser) NC_000005.10:13876765:T:C p.(Asn1105Ser) NC_000005.10:13876765:T:C Identity +NM_001354927.2:c.1067A>T NP_001341856.1:p.Asn356Ile NC_000009.12:35061171:T:A p.(Asn356Ile) NC_000009.12:35061171:T:A p.(Asn356Ile) NC_000009.12:35061171:T:A Identity +NM_001145661.2:c.223G>T NP_001139133.1:p.Ala75Ser NC_000003.12:128486808:C:A p.(Ala75Ser) NC_000003.12:128486808:C:A p.(Ala75Ser) NC_000003.12:128486808:C:A Identity +NM_000117.3:c.718TTC[1] NP_000108.1:p.Phe241del NC_000023.11:154381147:TCTTCTTC:TCTTC p.(Phe241del) NC_000023.11:154381149:T:TTC ERR:Parse ERR:Parse Identity +NM_001165966.2:c.322G>A NP_001159438.1:p.Ala108Thr NC_000017.11:6483673:C:T p.(Ala108Thr) NC_000017.11:6483673:C:T p.(Ala108Thr) NC_000017.11:6483673:C:T Identity +NM_002048.3:c.424G>A NP_002039.2:p.Ala142Thr NC_000009.12:86946355:C:T p.(Ala142Thr) NC_000009.12:86946355:C:T p.(Ala142Thr) NC_000009.12:86946355:C:T Identity +NM_001261826.3:c.2654C>T NP_001248755.1:p.Pro885Leu NC_000019.10:2113360:G:A p.(Pro885Leu) NC_000019.10:2113360:G:A p.(Pro885Leu) NC_000019.10:2113360:G:A Identity +NM_015180.6:c.17066G>A NP_055995.4:p.Arg5689Gln NC_000014.9:64170292:G:A p.(Arg5689Gln) NC_000014.9:64170292:G:A p.(Arg5689Gln) NC_000014.9:64170292:G:A Identity +NM_000388.4:c.3011G>A NP_000379.3:p.Ser1004Asn NC_000003.12:122284964:G:A p.(Ser1004Asn) NC_000003.12:122284964:G:A p.(Ser1004Asn) NC_000003.12:122284964:G:A Identity +NM_001025107.3:c.2140G>T NP_001020278.1:p.Gly714Cys NC_000001.11:154586357:C:A p.(Gly714Cys) NC_000001.11:154586357:C:A p.(Gly714Cys) NC_000001.11:154586357:C:A Identity +NM_000283.4:c.973GAG[1] NP_000274.3:p.Glu326del NC_000004.12:654866:AGGAGGAG:AGGAG p.(Glu326del) NC_000004.12:654868:G:GAG ERR:Parse ERR:Parse Identity +NM_001308133.2:c.2584A>C NP_001295062.1:p.Asn862His NC_000014.9:45175415:A:C p.(Asn862His) NC_000014.9:45175415:A:C p.(Asn862His) NC_000014.9:45175415:A:C Identity +NM_001003800.2:c.2545A>C NP_001003800.1:p.Lys849Gln NC_000009.12:92715176:T:G p.(Lys849Gln) NC_000009.12:92715176:T:G p.(Lys849Gln) NC_000009.12:92715176:T:G Identity +NM_001166418.2:c.104C>T NP_001159890.1:p.Pro35Leu NC_000023.11:72572657:G:A p.(Pro35Leu) NC_000023.11:72572657:G:A p.(Pro35Leu) NC_000023.11:72572657:G:A Identity +NM_006245.4:c.149C>T NP_006236.1:p.Ser50Phe NC_000006.12:43006505:C:T p.(Ser50Phe) NC_000006.12:43006505:C:T p.(Ser50Phe) NC_000006.12:43006505:C:T Identity +NM_001035.3:c.1906C>A NP_001026.2:p.Leu636Ile NC_000001.11:237493031:C:A p.(Leu636Ile) NC_000001.11:237493031:C:A p.(Leu636Ile) NC_000001.11:237493031:C:A Identity +NM_001257180.2:c.962C>T NP_001244109.1:p.Ser321Phe NC_000008.11:42437549:G:A p.(Ser321Phe) NC_000008.11:42437549:G:A p.(Ser321Phe) NC_000008.11:42437549:G:A Identity +NM_020964.3:c.964A>G NP_066015.2:p.Lys322Glu NC_000018.10:45954437:T:C p.(Lys322Glu) NC_000018.10:45954437:T:C p.(Lys322Glu) NC_000018.10:45954437:T:C Identity +NM_001354663.2:c.2284C>T NP_001341592.1:p.Arg762Cys NC_000003.12:193666334:C:T p.(Arg762Cys) NC_000003.12:193666334:C:T p.(Arg762Cys) NC_000003.12:193666334:C:T Identity +NM_001080463.2:c.4369C>A NP_001073932.1:p.Leu1457Ile NC_000011.10:103159017:C:A p.(Leu1457Ile) NC_000011.10:103159017:C:A p.(Leu1457Ile) NC_000011.10:103159017:C:A Identity +NM_001191060.2:c.313A>G NP_001177989.1:p.Lys105Glu NC_000011.10:792968:T:C p.(Lys105Glu) NC_000011.10:792968:T:C p.(Lys105Glu) NC_000011.10:792968:T:C Identity +NM_000245.4:c.466T>C NP_000236.2:p.Ser156Pro NC_000007.14:116699549:T:C p.(Ser156Pro) NC_000007.14:116699549:T:C p.(Ser156Pro) NC_000007.14:116699549:T:C Identity +NM_001164097.2:c.2249C>T NP_001157569.1:p.Thr750Ile NC_000005.10:83538212:C:T p.(Thr750Ile) NC_000005.10:83538212:C:T p.(Thr750Ile) NC_000005.10:83538212:C:T Identity +NM_002907.4:c.1015A>G NP_002898.2:p.Ile339Val NC_000012.12:21475758:T:C p.(Ile339Val) NC_000012.12:21475758:T:C p.(Ile339Val) NC_000012.12:21475758:T:C Identity +NM_001345856.2:c.2521G>C NP_001332785.1:p.Glu841Gln NC_000004.12:123313905:G:C p.(Glu841Gln) NC_000004.12:123313905:G:C p.(Glu841Gln) NC_000004.12:123313905:G:C Identity +NM_000536.4:c.446G>A NP_000527.2:p.Gly149Glu NC_000011.10:36593722:C:T p.(Gly149Glu) NC_000011.10:36593722:C:T p.(Gly149Glu) NC_000011.10:36593722:C:T Identity +NM_001024688.3:c.856G>C NP_001019859.1:p.Glu286Gln NC_000008.11:89958746:C:G p.(Glu286Gln) NC_000008.11:89958746:C:G p.(Glu286Gln) NC_000008.11:89958746:C:G Identity +NM_002299.4:c.3730G>A NP_002290.2:p.Ala1244Thr NC_000002.12:135808616:C:T p.(Ala1244Thr) NC_000002.12:135808616:C:T p.(Ala1244Thr) NC_000002.12:135808616:C:T Identity +NM_000478.6:c.1268T>C NP_000469.3:p.Val423Ala NC_000001.11:21576599:T:C p.(Val423Ala) NC_000001.11:21576599:T:C p.(Val423Ala) NC_000001.11:21576599:T:C Identity +NM_001080463.2:c.5783G>A NP_001073932.1:p.Gly1928Glu NC_000011.10:103176342:G:A p.(Gly1928Glu) NC_000011.10:103176342:G:A p.(Gly1928Glu) NC_000011.10:103176342:G:A Identity +NM_000535.7:c.842G>A NP_000526.2:p.Gly281Glu NC_000007.14:5995594:C:T p.(Gly281Glu) NC_000007.14:5995594:C:T p.(Gly281Glu) NC_000007.14:5995594:C:T Identity +NM_005914.4:c.721G>A NP_005905.2:p.Val241Ile NC_000008.11:47964600:G:A p.(Val241Ile) NC_000008.11:47964600:G:A p.(Val241Ile) NC_000008.11:47964600:G:A Identity +NM_001077182.3:c.1150dup NP_001070650.1:p.Ala384fs NC_000017.11:81536590:GGGG:GGGGG p.(Ala384GlyfsTer96) NC_000017.11:81536590:GGGG:GGGGG p.(Ala384GlyfsTer96) ERR:SPDI Analogous +NM_001291628.2:c.3590G>A NP_001278557.1:p.Cys1197Tyr NC_000014.9:95103805:C:T p.(Cys1197Tyr) NC_000014.9:95103805:C:T p.(Cys1197Tyr) NC_000014.9:95103805:C:T Identity +NM_001267722.2:c.106A>T NP_001254651.1:p.Lys36Ter NC_000004.12:56467740:A:T p.(Lys36Ter) NC_000004.12:56467740:A:T p.(Lys36Ter) NC_000004.12:56467740:A:T Identity +NM_033109.5:c.16T>A NP_149100.2:p.Tyr6Asn NC_000002.12:55693807:A:T p.(Tyr6Asn) NC_000002.12:55693807:A:T p.(Tyr6Asn) NC_000002.12:55693807:A:T Identity +NM_152594.3:c.270C>G NP_689807.1:p.His90Gln NC_000015.10:38322302:C:G p.(His90Gln) NC_000015.10:38322302:C:G p.(His90Gln) NC_000015.10:38322302:C:G Identity +NM_001144996.2:c.865G>C NP_001138468.1:p.Ala289Pro NC_000012.12:55698854:C:G p.(Ala289Pro) NC_000012.12:55698854:C:G p.(Ala289Pro) NC_000012.12:55698854:C:G Identity +NM_001308275.2:c.657_658delinsCC NP_001295204.1:p.Asp220His NC_000010.11:93792895:TG:CC p.(Asp220His) NC_000010.11:93792895:TG:CC p.(Asp220His) NC_000010.11:93792895:TG:CC Identity +NM_001734.5:c.86C>G NP_001725.1:p.Pro29Arg NC_000012.12:7062554:C:G p.(Pro29Arg) NC_000012.12:7062554:C:G p.(Pro29Arg) NC_000012.12:7062554:C:G Identity +NM_001317061.3:c.557T>C NP_001303990.1:p.Leu186Pro NC_000006.12:3105520:T:C p.(Leu186Pro) NC_000006.12:3105520:T:C p.(Leu186Pro) NC_000006.12:3105520:T:C Identity +NM_000287.4:c.829T>A NP_000278.3:p.Leu277Met NC_000006.12:42978321:A:T p.(Leu277Met) NC_000006.12:42978321:A:T p.(Leu277Met) NC_000006.12:42978321:A:T Identity +NM_001370085.1:c.70T>C NP_001357014.1:p.Trp24Arg NC_000020.11:765704:A:G p.(Trp24Arg) NC_000020.11:765704:A:G p.(Trp24Arg) NC_000020.11:765704:A:G Identity +NM_005876.5:c.1403G>A NP_005867.3:p.Arg468His NC_000002.12:219448560:G:A p.(Arg468His) NC_000002.12:219448560:G:A p.(Arg468His) NC_000002.12:219448560:G:A Identity +NM_001166292.2:c.2411G>A NP_001159764.1:p.Arg804His NC_000001.11:44827269:C:T p.(Arg804His) NC_000001.11:44827269:C:T p.(Arg804His) NC_000001.11:44827269:C:T Identity +NM_144643.4:c.1597A>T NP_653244.2:p.Ile533Phe NC_000004.12:128943030:T:A p.(Ile533Phe) NC_000004.12:128943030:T:A p.(Ile533Phe) NC_000004.12:128943030:T:A Identity +NM_001306079.2:c.2908C>T NP_001293008.1:p.Arg970Trp NC_000002.12:27233416:C:T p.(Arg970Trp) NC_000002.12:27233416:C:T p.(Arg970Trp) NC_000002.12:27233416:C:T Identity +NM_001350234.2:c.916A>G NP_001337163.1:p.Ile306Val NC_000001.11:9717093:A:G p.(Ile306Val) NC_000001.11:9717093:A:G p.(Ile306Val) NC_000001.11:9717093:A:G Identity +NM_001347827.2:c.92T>C NP_001334756.1:p.Leu31Pro NC_000004.12:54261136:T:C p.(Leu31Pro) NC_000004.12:54261136:T:C p.(Leu31Pro) NC_000004.12:54261136:T:C Identity +NM_001561.6:c.322C>G NP_001552.2:p.Gln108Glu NC_000001.11:7938216:G:C p.(Gln108Glu) NC_000001.11:7938216:G:C p.(Gln108Glu) NC_000001.11:7938216:G:C Identity +NM_022095.4:c.3650T>C NP_071378.1:p.Leu1217Pro NC_000020.11:45949818:A:G p.(Leu1217Pro) NC_000020.11:45949818:A:G p.(Leu1217Pro) NC_000020.11:45949818:A:G Identity +NM_000089.4:c.505G>A NP_000080.2:p.Gly169Arg NC_000007.14:94405690:G:A p.(Gly169Arg) NC_000007.14:94405690:G:A p.(Gly169Arg) NC_000007.14:94405690:G:A Identity +NM_001127487.2:c.3595A>G NP_001120959.1:p.Lys1199Glu NC_000007.14:128845059:A:G p.(Lys1199Glu) NC_000007.14:128845059:A:G p.(Lys1199Glu) NC_000007.14:128845059:A:G Identity +NM_001304482.2:c.1030G>C NP_001291411.1:p.Glu344Gln NC_000003.12:47408852:G:C p.(Glu344Gln) NC_000003.12:47408852:G:C p.(Glu344Gln) NC_000003.12:47408852:G:C Identity +NM_001164097.2:c.2297C>A NP_001157569.1:p.Pro766His NC_000005.10:83538260:C:A p.(Pro766His) NC_000005.10:83538260:C:A p.(Pro766His) NC_000005.10:83538260:C:A Identity +NM_001365951.3:c.3952C>T NP_001352880.1:p.Arg1318Cys NC_000001.11:10352632:C:T p.(Arg1318Cys) NC_000001.11:10352632:C:T p.(Arg1318Cys) NC_000001.11:10352632:C:T Identity +NM_000087.5:c.921C>G NP_000078.3:p.Ile307Met NC_000004.12:47937560:G:C p.(Ile307Met) NC_000004.12:47937560:G:C p.(Ile307Met) NC_000004.12:47937560:G:C Identity +NM_033071.5:c.3824T>A NP_149062.2:p.Leu1275Gln NC_000006.12:152444444:A:T p.(Leu1275Gln) NC_000006.12:152444444:A:T p.(Leu1275Gln) NC_000006.12:152444444:A:T Identity +NM_020461.4:c.3707G>T NP_065194.3:p.Arg1236Leu NC_000022.11:50220651:C:A p.(Arg1236Leu) NC_000022.11:50220651:C:A p.(Arg1236Leu) NC_000022.11:50220651:C:A Identity +NM_001182.5:c.1394G>A NP_001173.2:p.Gly465Asp NC_000005.10:126550216:C:T p.(Gly465Asp) NC_000005.10:126550216:C:T p.(Gly465Asp) NC_000005.10:126550216:C:T Identity +NM_024577.4:c.2951A>G NP_078853.2:p.His984Arg NC_000005.10:149026673:T:C p.(His984Arg) NC_000005.10:149026673:T:C p.(His984Arg) NC_000005.10:149026673:T:C Identity +NM_080605.4:c.513_520del NP_542172.2:p.Glu174fs NC_000001.11:1232787:GCGCGCCCGCG:GCG p.(Glu174AlafsTer266) NC_000001.11:1232787:GCGCGCCCGCG:GCG p.(Glu174AlafsTer266) NC_000001.11:1232790:CGCCCGCG: Analogous +NM_001112741.2:c.1466C>T NP_001106212.1:p.Pro489Leu NC_000011.10:17772559:C:T p.(Pro489Leu) NC_000011.10:17772559:C:T p.(Pro489Leu) NC_000011.10:17772559:C:T Identity +NM_000327.4:c.899T>C NP_000318.2:p.Ile300Thr NC_000011.10:62614681:T:C p.(Ile300Thr) NC_000011.10:62614681:T:C p.(Ile300Thr) NC_000011.10:62614681:T:C Identity +NM_005359.6:c.673C>T NP_005350.1:p.Pro225Ser NC_000018.10:51058129:C:T p.(Pro225Ser) NC_000018.10:51058129:C:T p.(Pro225Ser) NC_000018.10:51058129:C:T Identity +NM_000018.4:c.1825G>C NP_000009.1:p.Glu609Gln NC_000017.11:7224881:G:C p.(Glu609Gln) NC_000017.11:7224881:G:C p.(Glu609Gln) NC_000017.11:7224881:G:C Identity +NM_004260.4:c.1750C>A NP_004251.4:p.Leu584Met NC_000008.11:144514316:G:T p.(Leu584Met) NC_000008.11:144514316:G:T p.(Leu584Met) NC_000008.11:144514316:G:T Identity +NM_139318.5:c.1465C>T NP_647479.2:p.Arg489Trp NC_000014.9:62849756:G:A p.(Arg489Trp) NC_000014.9:62849756:G:A p.(Arg489Trp) NC_000014.9:62849756:G:A Identity +NM_000548.5:c.5188T>C NP_000539.2:p.Ser1730Pro NC_000016.10:2088253:T:C p.(Ser1730Pro) NC_000016.10:2088253:T:C p.(Ser1730Pro) NC_000016.10:2088253:T:C Identity +NM_001007099.3:c.375G>C NP_001007100.1:p.Met125Ile NC_000001.11:53050646:G:C p.(Met125Ile) NC_000001.11:53050646:G:C p.(Met125Ile) NC_000001.11:53050646:G:C Identity +NM_001282237.2:c.1602G>C NP_001269166.1:p.Glu534Asp NC_000014.9:99175230:C:G p.(Glu534Asp) NC_000014.9:99175230:C:G p.(Glu534Asp) NC_000014.9:99175230:C:G Identity +NM_000135.4:c.923G>A NP_000126.2:p.Gly308Asp NC_000016.10:89795988:C:T p.(Gly308Asp) NC_000016.10:89795988:C:T p.(Gly308Asp) NC_000016.10:89795988:C:T Identity +NM_005245.4:c.11469T>G NP_005236.2:p.Phe3823Leu NC_000004.12:186602915:A:C p.(Phe3823Leu) NC_000004.12:186602915:A:C p.(Phe3823Leu) NC_000004.12:186602915:A:C Identity +NM_001378454.1:c.8849C>A NP_001365383.1:p.Pro2950His NC_000002.12:73490807:C:A p.(Pro2950His) NC_000002.12:73490807:C:A p.(Pro2950His) NC_000002.12:73490807:C:A Identity +NM_001386500.1:c.259A>G NP_001373429.1:p.Ile87Val NC_000001.11:11258496:T:C p.(Ile87Val) NC_000001.11:11258496:T:C p.(Ile87Val) NC_000001.11:11258496:T:C Identity +NM_001382235.1:c.2186A>C NP_001369164.1:p.Gln729Pro NC_000020.11:63407130:T:G p.(Gln729Pro) NC_000020.11:63407130:T:G p.(Gln729Pro) NC_000020.11:63407130:T:G Identity +NM_001099952.4:c.7234G>A NP_001093422.2:p.Val2412Ile NC_000003.12:4811369:G:A p.(Val2412Ile) NC_000003.12:4811369:G:A p.(Val2412Ile) NC_000003.12:4811369:G:A Identity +NM_001379500.1:c.1616C>T NP_001366429.1:p.Pro539Leu NC_000021.9:45481966:C:T p.(Pro539Leu) NC_000021.9:45481966:C:T p.(Pro539Leu) NC_000021.9:45481966:C:T Identity +NM_001317924.2:c.1336T>C NP_001304853.1:p.Phe446Leu NC_000004.12:39228523:T:C p.(Phe446Leu) NC_000004.12:39228523:T:C p.(Phe446Leu) NC_000004.12:39228523:T:C Identity +NM_001142301.1:c.2458CTT[1] NP_001135773.1:p.Leu821del NC_000008.11:93809823:CTTCTT:CTT p.(Leu821del) NC_000008.11:93809823:C:CTT ERR:Parse ERR:Parse Identity +NM_001013838.3:c.1768G>A NP_001013860.1:p.Ala590Thr NC_000016.10:67649467:G:A p.(Ala590Thr) NC_000016.10:67649467:G:A p.(Ala590Thr) NC_000016.10:67649467:G:A Identity +NM_004525.3:c.8000C>T NP_004516.2:p.Ala2667Val NC_000002.12:169203986:G:A p.(Ala2667Val) NC_000002.12:169203986:G:A p.(Ala2667Val) NC_000002.12:169203986:G:A Identity +NM_001282708.1:c.92A>T NP_001269637.1:p.Asp31Val NC_000009.12:130693882:A:T p.(Asp31Val) NC_000009.12:130693882:A:T p.(Asp31Val) NC_000009.12:130693882:A:T Identity +NM_000283.4:c.2353G>A NP_000274.3:p.Glu785Lys NC_000004.12:667855:G:A p.(Glu785Lys) NC_000004.12:667855:G:A p.(Glu785Lys) NC_000004.12:667855:G:A Identity +NM_001001557.4:c.316T>A NP_001001557.1:p.Ser106Thr NC_000008.11:96160376:A:T p.(Ser106Thr) NC_000008.11:96160376:A:T p.(Ser106Thr) NC_000008.11:96160376:A:T Identity +NM_000709.4:c.495G>A NP_000700.1:p.Met165Ile NC_000019.10:41419144:G:A p.(Met165Ile) NC_000019.10:41419144:G:A p.(Met165Ile) NC_000019.10:41419144:G:A Identity +NM_001318746.1:c.274A>G NP_001305675.1:p.Ile92Val NC_000006.12:106619247:T:C p.(Ile92Val) NC_000006.12:106619247:T:C p.(Ile92Val) NC_000006.12:106619247:T:C Identity +NM_001386500.1:c.5324A>G NP_001373429.1:p.Tyr1775Cys NC_000001.11:11133119:T:C p.(Tyr1775Cys) NC_000001.11:11133119:T:C p.(Tyr1775Cys) NC_000001.11:11133119:T:C Identity +NM_006231.4:c.4300C>G NP_006222.2:p.Leu1434Val NC_000012.12:132643550:G:C p.(Leu1434Val) NC_000012.12:132643550:G:C p.(Leu1434Val) NC_000012.12:132643550:G:C Identity +NM_001204182.2:c.719dup NP_001191111.1:p.Tyr240Ter NC_000001.11:211670326:T:TT p.(Tyr240Ter) NC_000001.11:211670326:T:TT p.(Tyr240Ter) ERR:SPDI Identity +NM_003906.5:c.47C>T NP_003897.2:p.Ser16Leu NC_000021.9:46285239:G:A p.(Ser16Leu) NC_000021.9:46285239:G:A p.(Ser16Leu) NC_000021.9:46285239:G:A Identity +NM_001369369.1:c.997G>A NP_001356298.1:p.Glu333Lys NC_000017.11:28534399:G:A p.(Glu333Lys) NC_000017.11:28534399:G:A p.(Glu333Lys) NC_000017.11:28534399:G:A Identity +NM_000321.3:c.1669A>G NP_000312.2:p.Ile557Val NC_000013.11:48381416:A:G p.(Ile557Val) NC_000013.11:48381416:A:G p.(Ile557Val) NC_000013.11:48381416:A:G Identity +NM_000428.3:c.3823A>G NP_000419.1:p.Lys1275Glu NC_000014.9:74507262:T:C p.(Lys1275Glu) NC_000014.9:74507262:T:C p.(Lys1275Glu) NC_000014.9:74507262:T:C Identity +NM_001297644.1:c.1151A>G NP_001284573.1:p.Gln384Arg NC_000005.10:64971810:A:G p.(Gln384Arg) NC_000005.10:64971810:A:G p.(Gln384Arg) NC_000005.10:64971810:A:G Identity +NM_000051.4:c.2107A>C NP_000042.3:p.Asn703His NC_000011.10:108254021:A:C p.(Asn703His) NC_000011.10:108254021:A:C p.(Asn703His) NC_000011.10:108254021:A:C Identity +NM_014510.3:c.3898T>C NP_055325.2:p.Ser1300Pro NC_000007.14:82965889:A:G p.(Ser1300Pro) NC_000007.14:82965889:A:G p.(Ser1300Pro) NC_000007.14:82965889:A:G Identity +NM_001080467.3:c.941T>A NP_001073936.1:p.Leu314His NC_000018.10:49984722:A:T p.(Leu314His) NC_000018.10:49984722:A:T p.(Leu314His) NC_000018.10:49984722:A:T Identity +NM_001164840.3:c.8C>T NP_001158312.1:p.Ala3Val NC_000006.12:5260725:G:A p.(Ala3Val) NC_000006.12:5260725:G:A p.(Ala3Val) NC_000006.12:5260725:G:A Identity +NM_001367624.2:c.11216G>A NP_001354553.1:p.Arg3739His NC_000016.10:88438685:G:A p.(Arg3739His) NC_000016.10:88438685:G:A p.(Arg3739His) NC_000016.10:88438685:G:A Identity +NM_001031717.4:c.613A>G NP_001026887.2:p.Asn205Asp NC_000003.12:9941001:A:G p.(Asn205Asp) NC_000003.12:9941001:A:G p.(Asn205Asp) NC_000003.12:9941001:A:G Identity +NM_020754.4:c.2335C>T NP_065805.2:p.Pro779Ser NC_000003.12:119414263:C:T p.(Pro779Ser) NC_000003.12:119414263:C:T p.(Pro779Ser) NC_000003.12:119414263:C:T Identity +NM_001346899.2:c.3442G>A NP_001333828.1:p.Glu1148Lys NC_000007.14:55205560:G:A p.(Glu1148Lys) NC_000007.14:55205560:G:A p.(Glu1148Lys) NC_000007.14:55205560:G:A Identity +NM_000282.4:c.2069T>C NP_000273.2:p.Ile690Thr NC_000013.11:100527702:T:C p.(Ile690Thr) NC_000013.11:100527702:T:C p.(Ile690Thr) NC_000013.11:100527702:T:C Identity +NM_000368.5:c.676C>T NP_000359.1:p.His226Tyr NC_000009.12:132921423:G:A p.(His226Tyr) NC_000009.12:132921423:G:A p.(His226Tyr) NC_000009.12:132921423:G:A Identity +NM_001145252.3:c.530A>G NP_001138724.1:p.Gln177Arg NC_000023.11:47627514:T:C p.(Gln177Arg) NC_000023.11:47627514:T:C p.(Gln177Arg) NC_000023.11:47627514:T:C Identity +NM_001385640.1:c.1045G>C NP_001372569.1:p.Glu349Gln NC_000001.11:939116:G:C p.(Glu349Gln) NC_000001.11:939116:G:C p.(Glu349Gln) NC_000001.11:939116:G:C Identity +NM_001378355.1:c.1677G>T NP_001365284.1:p.Met559Ile NC_000019.10:49835535:G:T p.(Met559Ile) NC_000019.10:49835535:G:T p.(Met559Ile) NC_000019.10:49835535:G:T Identity +NM_001082537.3:c.499C>A NP_001076006.1:p.Pro167Thr NC_000012.12:110628792:C:A p.(Pro167Thr) NC_000012.12:110628792:C:A p.(Pro167Thr) NC_000012.12:110628792:C:A Identity +NM_001286414.3:c.1127C>T NP_001273343.1:p.Ala376Val NC_000015.10:43395643:C:T p.(Ala376Val) NC_000015.10:43395643:C:T p.(Ala376Val) NC_000015.10:43395643:C:T Identity +NM_021939.4:c.642G>A NP_068758.3:p.Met214Ile NC_000017.11:41818441:G:A p.(Met214Ile) NC_000017.11:41818441:G:A p.(Met214Ile) NC_000017.11:41818441:G:A Identity +NM_006019.4:c.284T>C NP_006010.2:p.Leu95Pro NC_000011.10:68042729:T:C p.(Leu95Pro) NC_000011.10:68042729:T:C p.(Leu95Pro) NC_000011.10:68042729:T:C Identity +NM_000719.7:c.5270G>A NP_000710.5:p.Ser1757Asn NC_000012.12:2679621:G:A p.(Ser1757Asn) NC_000012.12:2679621:G:A p.(Ser1757Asn) NC_000012.12:2679621:G:A Identity +NM_000908.4:c.1586G>A NP_000899.1:p.Arg529Gln NC_000005.10:32786307:G:A p.(Arg529Gln) NC_000005.10:32786307:G:A p.(Arg529Gln) NC_000005.10:32786307:G:A Identity +NM_001080522.2:c.590T>C NP_001073991.2:p.Phe197Ser NC_000004.12:15511295:T:C p.(Phe197Ser) NC_000004.12:15511295:T:C p.(Phe197Ser) NC_000004.12:15511295:T:C Identity +NM_001203263.2:c.883C>A NP_001190192.2:p.Arg295Ser NC_000003.12:9928309:C:A p.(Arg295Ser) NC_000003.12:9928309:C:A p.(Arg295Ser) NC_000003.12:9928309:C:A Identity +NM_020987.5:c.4868G>T NP_066267.2:p.Arg1623Leu NC_000010.11:60076012:C:A p.(Arg1623Leu) NC_000010.11:60076012:C:A p.(Arg1623Leu) NC_000010.11:60076012:C:A Identity +NM_001385640.1:c.2313_2314delinsTT NP_001372569.1:p.Val772Phe NC_000001.11:943927:AG:TT p.(Val772Phe) NC_000001.11:943927:AG:TT p.(Val772Phe) NC_000001.11:943927:AG:TT Identity +NM_001243925.2:c.83C>G NP_001230854.1:p.Pro28Arg NC_000003.12:50617647:C:G p.(Pro28Arg) NC_000003.12:50617647:C:G p.(Pro28Arg) NC_000003.12:50617647:C:G Identity +NM_001378454.1:c.2713T>A NP_001365383.1:p.Ser905Thr NC_000002.12:73449239:T:A p.(Ser905Thr) NC_000002.12:73449239:T:A p.(Ser905Thr) NC_000002.12:73449239:T:A Identity +NM_000326.5:c.676A>C NP_000317.1:p.Met226Leu NC_000015.10:89211750:T:G p.(Met226Leu) NC_000015.10:89211750:T:G p.(Met226Leu) NC_000015.10:89211750:T:G Identity +NM_005245.4:c.11342T>C NP_005236.2:p.Leu3781Pro NC_000004.12:186603183:A:G p.(Leu3781Pro) NC_000004.12:186603183:A:G p.(Leu3781Pro) NC_000004.12:186603183:A:G Identity +NM_003801.4:c.886C>T NP_003792.1:p.Arg296Trp NC_000008.11:144084484:C:T p.(Arg296Trp) NC_000008.11:144084484:C:T p.(Arg296Trp) NC_000008.11:144084484:C:T Identity +NM_017890.5:c.2788C>A NP_060360.3:p.Gln930Lys NC_000008.11:99275217:C:A p.(Gln930Lys) NC_000008.11:99275217:C:A p.(Gln930Lys) NC_000008.11:99275217:C:A Identity +NM_001202554.2:c.1060C>G NP_001189483.1:p.Leu354Val NC_000001.11:26795093:C:G p.(Leu354Val) NC_000001.11:26795093:C:G p.(Leu354Val) NC_000001.11:26795093:C:G Identity +NM_002187.3:c.79A>C NP_002178.2:p.Lys27Gln NC_000005.10:159326703:T:G p.(Lys27Gln) NC_000005.10:159326703:T:G p.(Lys27Gln) NC_000005.10:159326703:T:G Identity +NM_000445.5:c.12358C>T NP_000436.2:p.Pro4120Ser NC_000008.11:143917543:G:A p.(Pro4120Ser) NC_000008.11:143917543:G:A p.(Pro4120Ser) NC_000008.11:143917543:G:A Identity +NM_001365999.1:c.4915C>T NP_001352928.1:p.Arg1639Trp NC_000001.11:43431088:C:T p.(Arg1639Trp) NC_000001.11:43431088:C:T p.(Arg1639Trp) NC_000001.11:43431088:C:T Identity +NM_000257.4:c.1061G>A NP_000248.2:p.Gly354Asp NC_000014.9:23429851:C:T p.(Gly354Asp) NC_000014.9:23429851:C:T p.(Gly354Asp) NC_000014.9:23429851:C:T Identity +NM_006231.4:c.6541dup NP_006222.2:p.Val2181fs NC_000012.12:132625760:CC:CCC p.(Val2181GlyfsTer123) NC_000012.12:132625760:CC:CCC p.(Val2181GlyfsTer123) ERR:SPDI Analogous +NM_001371533.1:c.1552G>A NP_001358462.1:p.Ala518Thr NC_000014.9:65742233:G:A p.(Ala518Thr) NC_000014.9:65742233:G:A p.(Ala518Thr) NC_000014.9:65742233:G:A Identity +NM_006231.4:c.839A>G NP_006222.2:p.Lys280Arg NC_000012.12:132676615:T:C p.(Lys280Arg) NC_000012.12:132676615:T:C p.(Lys280Arg) NC_000012.12:132676615:T:C Identity +NM_005876.5:c.1468C>T NP_005867.3:p.Leu490Phe NC_000002.12:219448625:C:T p.(Leu490Phe) NC_000002.12:219448625:C:T p.(Leu490Phe) NC_000002.12:219448625:C:T Identity +NM_000275.3:c.158G>A NP_000266.2:p.Arg53Lys NC_000015.10:28081716:C:T p.(Arg53Lys) NC_000015.10:28081716:C:T p.(Arg53Lys) NC_000015.10:28081716:C:T Identity +NM_001567.4:c.271C>T NP_001558.3:p.Arg91Cys NC_000011.10:72228371:C:T p.(Arg91Cys) NC_000011.10:72228371:C:T p.(Arg91Cys) NC_000011.10:72228371:C:T Identity +NM_000028.3:c.1858C>G NP_000019.2:p.Leu620Val NC_000001.11:99880753:C:G p.(Leu620Val) NC_000001.11:99880753:C:G p.(Leu620Val) NC_000001.11:99880753:C:G Identity +NM_001015880.2:c.1775A>C NP_001015880.1:p.Glu592Ala NC_000010.11:87745884:A:C p.(Glu592Ala) NC_000010.11:87745884:A:C p.(Glu592Ala) NC_000010.11:87745884:A:C Identity +NM_001258271.2:c.413C>T NP_001245200.1:p.Pro138Leu NC_000003.12:37007022:C:T p.(Pro138Leu) NC_000003.12:37007022:C:T p.(Pro138Leu) NC_000003.12:37007022:C:T Identity +NM_001014796.3:c.120G>T NP_001014796.1:p.Gln40His NC_000001.11:162753131:G:T p.(Gln40His) NC_000001.11:162753131:G:T p.(Gln40His) NC_000001.11:162753131:G:T Identity +NM_006494.4:c.199T>G NP_006485.2:p.Trp67Gly NC_000019.10:42250388:A:C p.(Trp67Gly) NC_000019.10:42250388:A:C p.(Trp67Gly) NC_000019.10:42250388:A:C Identity +NM_000747.3:c.598G>A NP_000738.2:p.Gly200Arg NC_000017.11:7447637:G:A p.(Gly200Arg) NC_000017.11:7447637:G:A p.(Gly200Arg) NC_000017.11:7447637:G:A Identity +NM_001384732.1:c.5299T>C NP_001371661.1:p.Ser1767Pro NC_000005.10:37182881:A:G p.(Ser1767Pro) NC_000005.10:37182881:A:G p.(Ser1767Pro) NC_000005.10:37182881:A:G Identity +NM_001081640.2:c.7703T>C NP_001075109.1:p.Met2568Thr NC_000008.11:47837269:A:G p.(Met2568Thr) NC_000008.11:47837269:A:G p.(Met2568Thr) NC_000008.11:47837269:A:G Identity +NM_000179.3:c.3128A>G NP_000170.1:p.Asn1043Ser NC_000002.12:47801110:A:G p.(Asn1043Ser) NC_000002.12:47801110:A:G p.(Asn1043Ser) NC_000002.12:47801110:A:G Identity +NM_005914.4:c.565A>C NP_005905.2:p.Thr189Pro NC_000008.11:47962826:A:C p.(Thr189Pro) NC_000008.11:47962826:A:C p.(Thr189Pro) NC_000008.11:47962826:A:C Identity +NM_000440.3:c.155C>T NP_000431.2:p.Pro52Leu NC_000005.10:149944518:G:A p.(Pro52Leu) NC_000005.10:149944518:G:A p.(Pro52Leu) NC_000005.10:149944518:G:A Identity +NM_001285829.2:c.248C>T NP_001272758.1:p.Ala83Val NC_000019.10:33301809:G:A p.(Ala83Val) NC_000019.10:33301809:G:A p.(Ala83Val) NC_000019.10:33301809:G:A Identity +NM_002386.4:c.687_690dup NP_002377.4:p.Val231fs NC_000016.10:89919942:CGCCCG:CGCCCGCCCG p.(Val231ProfsTer9) NC_000016.10:89919942:CGCCCG:CGCCCGCCCG p.(Val231ProfsTer9) ERR:SPDI Analogous +NM_001012720.2:c.44A>C NP_001012738.1:p.Glu15Ala NC_000010.11:84245133:A:C p.(Glu15Ala) NC_000010.11:84245133:A:C p.(Glu15Ala) NC_000010.11:84245133:A:C Identity +NM_000802.3:c.380A>G NP_000793.1:p.Glu127Gly NC_000011.10:72195633:A:G p.(Glu127Gly) NC_000011.10:72195633:A:G p.(Glu127Gly) NC_000011.10:72195633:A:G Identity +NM_001160227.2:c.1408A>G NP_001153699.1:p.Ile470Val NC_000015.10:44651538:T:C p.(Ile470Val) NC_000015.10:44651538:T:C p.(Ile470Val) NC_000015.10:44651538:T:C Identity +NM_001287489.2:c.563A>G NP_001274418.1:p.Lys188Arg NC_000002.12:26503791:T:C p.(Lys188Arg) NC_000002.12:26503791:T:C p.(Lys188Arg) NC_000002.12:26503791:T:C Identity +NM_000553.6:c.3182T>C NP_000544.2:p.Leu1061Pro NC_000008.11:31141723:T:C p.(Leu1061Pro) NC_000008.11:31141723:T:C p.(Leu1061Pro) NC_000008.11:31141723:T:C Identity +NM_001308301.1:c.205G>A NP_001295230.1:p.Gly69Arg NC_000016.10:46732441:C:T p.(Gly69Arg) NC_000016.10:46732441:C:T p.(Gly69Arg) NC_000016.10:46732441:C:T Identity +NM_000155.4:c.403T>G NP_000146.2:p.Ser135Ala NC_000009.12:34647856:T:G p.(Ser135Ala) NC_000009.12:34647856:T:G p.(Ser135Ala) NC_000009.12:34647856:T:G Identity +NM_032802.4:c.541T>A NP_116191.2:p.Phe181Ile NC_000015.10:50747537:A:T p.(Phe181Ile) NC_000015.10:50747537:A:T p.(Phe181Ile) NC_000015.10:50747537:A:T Identity +NM_000251.3:c.1826C>T NP_000242.1:p.Ala609Val NC_000002.12:47475090:C:T p.(Ala609Val) NC_000002.12:47475090:C:T p.(Ala609Val) NC_000002.12:47475090:C:T Identity +NM_003922.4:c.11183A>G NP_003913.3:p.Gln3728Arg NC_000015.10:63644992:T:C p.(Gln3728Arg) NC_000015.10:63644992:T:C p.(Gln3728Arg) NC_000015.10:63644992:T:C Identity +NM_007123.6:c.4304A>C NP_009054.6:p.Lys1435Thr NC_000001.11:216190314:T:G p.(Lys1435Thr) NC_000001.11:216190314:T:G p.(Lys1435Thr) NC_000001.11:216190314:T:G Identity +NM_001318859.2:c.319T>C NP_001305788.1:p.Ser107Pro NC_000002.12:73946781:T:C p.(Ser107Pro) NC_000002.12:73946781:T:C p.(Ser107Pro) NC_000002.12:73946781:T:C Identity +NM_000038.6:c.2276C>T NP_000029.2:p.Ala759Val NC_000005.10:112837869:C:T p.(Ala759Val) NC_000005.10:112837869:C:T p.(Ala759Val) NC_000005.10:112837869:C:T Identity +NM_001085487.3:c.1531A>G NP_001078956.1:p.Asn511Asp NC_000001.11:58673613:T:C p.(Asn511Asp) NC_000001.11:58673613:T:C p.(Asn511Asp) NC_000001.11:58673613:T:C Identity +NM_001410792.1:c.870C>A NP_001397721.1:p.Asn290Lys NC_000002.12:58163039:G:T p.(Asn290Lys) NC_000002.12:58163039:G:T p.(Asn290Lys) NC_000002.12:58163039:G:T Identity +NM_001371986.1:c.5840G>A NP_001358915.1:p.Cys1947Tyr NC_000002.12:209929903:G:A p.(Cys1947Tyr) NC_000002.12:209929903:G:A p.(Cys1947Tyr) NC_000002.12:209929903:G:A Identity +NM_000350.3:c.5213G>A NP_000341.2:p.Ser1738Asn NC_000001.11:94015837:C:T p.(Ser1738Asn) NC_000001.11:94015837:C:T p.(Ser1738Asn) NC_000001.11:94015837:C:T Identity +NM_014321.4:c.313T>C NP_055136.1:p.Phe105Leu NC_000016.10:46692498:T:C p.(Phe105Leu) NC_000016.10:46692498:T:C p.(Phe105Leu) NC_000016.10:46692498:T:C Identity +NM_032119.4:c.5670A>G NP_115495.3:p.Ile1890Met NC_000005.10:90683590:A:G p.(Ile1890Met) NC_000005.10:90683590:A:G p.(Ile1890Met) NC_000005.10:90683590:A:G Identity +NM_001127493.3:c.1244A>G NP_001120965.1:p.His415Arg NC_000004.12:113258331:A:G p.(His415Arg) NC_000004.12:113258331:A:G p.(His415Arg) NC_000004.12:113258331:A:G Identity +NM_006267.5:c.4253A>G NP_006258.3:p.His1418Arg NC_000002.12:108764791:A:G p.(His1418Arg) NC_000002.12:108764791:A:G p.(His1418Arg) NC_000002.12:108764791:A:G Identity +NM_006929.5:c.2165G>C NP_008860.4:p.Arg722Pro NC_000006.12:31965975:G:C p.(Arg722Pro) NC_000006.12:31965975:G:C p.(Arg722Pro) NC_000006.12:31965975:G:C Identity +NM_000245.4:c.439C>T NP_000236.2:p.Pro147Ser NC_000007.14:116699522:C:T p.(Pro147Ser) NC_000007.14:116699522:C:T p.(Pro147Ser) NC_000007.14:116699522:C:T Identity +NM_001306129.2:c.6691A>G NP_001293058.2:p.Ile2231Val NC_000002.12:215370362:T:C p.(Ile2231Val) NC_000002.12:215370362:T:C p.(Ile2231Val) NC_000002.12:215370362:T:C Identity +NM_000631.5:c.85A>C NP_000622.2:p.Ile29Leu NC_000022.11:36864096:A:C p.(Ile29Leu) NC_000022.11:36864096:A:C p.(Ile29Leu) NC_000022.11:36864096:A:C Identity +NM_001486.4:c.124G>A NP_001477.2:p.Asp42Asn NC_000002.12:27497306:G:A p.(Asp42Asn) NC_000002.12:27497306:G:A p.(Asp42Asn) NC_000002.12:27497306:G:A Identity +NM_000465.4:c.1876A>C NP_000456.2:p.Asn626His NC_000002.12:214745093:T:G p.(Asn626His) NC_000002.12:214745093:T:G p.(Asn626His) NC_000002.12:214745093:T:G Identity +NM_178013.4:c.33_34inv NP_821092.1:p.Cys12Gly NC_000014.9:93787684:AG:CT p.(Cys12Gly) NC_000014.9:93787684:AG:CT p.(Cys12Gly) ERR:SPDI Identity +NM_000337.6:c.131T>G NP_000328.2:p.Ile44Ser NC_000005.10:156344615:T:G p.(Ile44Ser) NC_000005.10:156344615:T:G p.(Ile44Ser) NC_000005.10:156344615:T:G Identity +NM_015180.6:c.3613G>A NP_055995.4:p.Glu1205Lys NC_000014.9:64000693:G:A p.(Glu1205Lys) NC_000014.9:64000693:G:A p.(Glu1205Lys) NC_000014.9:64000693:G:A Identity +NM_000068.4:c.3541C>G NP_000059.3:p.Pro1181Ala NC_000019.10:13286526:G:C p.(Pro1181Ala) NC_000019.10:13286526:G:C p.(Pro1181Ala) NC_000019.10:13286526:G:C Identity +NM_001130438.3:c.6228C>G NP_001123910.1:p.Asn2076Lys NC_000009.12:128625926:C:G p.(Asn2076Lys) NC_000009.12:128625926:C:G p.(Asn2076Lys) NC_000009.12:128625926:C:G Identity +NM_000334.4:c.628G>A NP_000325.4:p.Val210Met NC_000017.11:63971236:C:T p.(Val210Met) NC_000017.11:63971236:C:T p.(Val210Met) NC_000017.11:63971236:C:T Identity +NM_001303110.2:c.1246C>G NP_001290039.1:p.Pro416Ala NC_000013.11:110198505:G:C p.(Pro416Ala) NC_000013.11:110198505:G:C p.(Pro416Ala) NC_000013.11:110198505:G:C Identity +NM_014908.4:c.464T>C NP_055723.1:p.Met155Thr NC_000009.12:128946839:A:G p.(Met155Thr) NC_000009.12:128946839:A:G p.(Met155Thr) NC_000009.12:128946839:A:G Identity +NM_001256850.1:c.76634_76641del NP_001243779.1:p.Asn25545fs NC_000002.12:178564567:TGTGACATTGT:TGT p.(Asn25545ThrfsTer9) NC_000002.12:178564567:TGTGACATTGT:TGT p.(Asn25545ThrfsTer9) NC_000002.12:178564567:TGTGACAT: Analogous +NM_020949.3:c.1187C>T NP_066000.2:p.Ala396Val NC_000003.12:170481094:G:A p.(Ala396Val) NC_000003.12:170481094:G:A p.(Ala396Val) NC_000003.12:170481094:G:A Identity +NM_001256959.2:c.1321G>A NP_001243888.2:p.Val441Ile NC_000001.11:11833890:G:A p.(Val441Ile) NC_000001.11:11833890:G:A p.(Val441Ile) NC_000001.11:11833890:G:A Identity +NM_001382422.1:c.2390G>A NP_001369351.1:p.Arg797Gln NC_000019.10:45213087:C:T p.(Arg797Gln) NC_000019.10:45213087:C:T p.(Arg797Gln) NC_000019.10:45213087:C:T Identity +NM_001048210.3:c.1543G>T NP_001041675.1:p.Ala515Ser NC_000001.11:108934782:C:A p.(Ala515Ser) NC_000001.11:108934782:C:A p.(Ala515Ser) NC_000001.11:108934782:C:A Identity +NM_001126132.3:c.745C>T NP_001119604.1:p.Arg249Trp NC_000019.10:55132958:G:A p.(Arg249Trp) NC_000019.10:55132958:G:A p.(Arg249Trp) NC_000019.10:55132958:G:A Identity +NM_001271888.2:c.194C>A NP_001258817.1:p.Ala65Glu NC_000015.10:78109257:G:T p.(Ala65Glu) NC_000015.10:78109257:G:T p.(Ala65Glu) NC_000015.10:78109257:G:T Identity +NM_152309.3:c.1259A>T NP_689522.2:p.Glu420Val NC_000010.11:96645588:T:A p.(Glu420Val) NC_000010.11:96645588:T:A p.(Glu420Val) NC_000010.11:96645588:T:A Identity +NM_001220482.2:c.607C>A NP_001207411.1:p.Leu203Ile NC_000015.10:37093612:G:T p.(Leu203Ile) NC_000015.10:37093612:G:T p.(Leu203Ile) NC_000015.10:37093612:G:T Identity +NM_001130823.3:c.2031G>T NP_001124295.1:p.Gln677His NC_000019.10:10151835:C:A p.(Gln677His) NC_000019.10:10151835:C:A p.(Gln677His) NC_000019.10:10151835:C:A Identity +NM_001379277.1:c.1735G>A NP_001366206.1:p.Ala579Thr NC_000007.14:92079222:G:A p.(Ala579Thr) NC_000007.14:92079222:G:A p.(Ala579Thr) NC_000007.14:92079222:G:A Identity +NM_000449.4:c.56C>G NP_000440.1:p.Pro19Arg NC_000001.11:151346264:G:C p.(Pro19Arg) NC_000001.11:151346264:G:C p.(Pro19Arg) NC_000001.11:151346264:G:C Identity +NM_004304.5:c.464T>G NP_004295.2:p.Val155Gly NC_000002.12:29920195:A:C p.(Val155Gly) NC_000002.12:29920195:A:C p.(Val155Gly) NC_000002.12:29920195:A:C Identity +NM_000313.4:c.1832T>C NP_000304.2:p.Met611Thr NC_000003.12:93877003:A:G p.(Met611Thr) NC_000003.12:93877003:A:G p.(Met611Thr) NC_000003.12:93877003:A:G Identity +NM_017613.4:c.1480G>A NP_060083.1:p.Gly494Arg NC_000021.9:33579432:C:T p.(Gly494Arg) NC_000021.9:33579432:C:T p.(Gly494Arg) NC_000021.9:33579432:C:T Identity +NM_001315529.2:c.3500G>A NP_001302458.1:p.Arg1167His NC_000021.9:46390682:G:A p.(Arg1167His) NC_000021.9:46390682:G:A p.(Arg1167His) NC_000021.9:46390682:G:A Identity +NM_001365999.1:c.1734C>A NP_001352928.1:p.His578Gln NC_000001.11:43422189:C:A p.(His578Gln) NC_000001.11:43422189:C:A p.(His578Gln) NC_000001.11:43422189:C:A Identity +NM_001002841.2:c.136A>T NP_001002841.1:p.Ile46Leu NC_000017.11:47213798:A:T p.(Ile46Leu) NC_000017.11:47213798:A:T p.(Ile46Leu) NC_000017.11:47213798:A:T Identity +NM_194318.4:c.17G>A NP_919299.3:p.Cys6Tyr NC_000013.11:31200100:G:A p.(Cys6Tyr) NC_000013.11:31200100:G:A p.(Cys6Tyr) NC_000013.11:31200100:G:A Identity +NM_001048171.2:c.404C>T NP_001041636.2:p.Ala135Val NC_000001.11:45332933:G:A p.(Ala135Val) NC_000001.11:45332933:G:A p.(Ala135Val) NC_000001.11:45332933:G:A Identity +NM_001376.5:c.1474G>A NP_001367.2:p.Ala492Thr NC_000014.9:101985698:G:A p.(Ala492Thr) NC_000014.9:101985698:G:A p.(Ala492Thr) NC_000014.9:101985698:G:A Identity +NM_000428.3:c.788C>T NP_000419.1:p.Pro263Leu NC_000014.9:74585895:G:A p.(Pro263Leu) NC_000014.9:74585895:G:A p.(Pro263Leu) NC_000014.9:74585895:G:A Identity +NM_000158.4:c.2010T>G NP_000149.4:p.Phe670Leu NC_000003.12:81499151:A:C p.(Phe670Leu) NC_000003.12:81499151:A:C p.(Phe670Leu) NC_000003.12:81499151:A:C Identity +NM_001853.4:c.1712T>C NP_001844.3:p.Ile571Thr NC_000020.11:62837190:T:C p.(Ile571Thr) NC_000020.11:62837190:T:C p.(Ile571Thr) NC_000020.11:62837190:T:C Identity +NM_006231.4:c.5174T>G NP_006222.2:p.Val1725Gly NC_000012.12:132641850:A:C p.(Val1725Gly) NC_000012.12:132641850:A:C p.(Val1725Gly) NC_000012.12:132641850:A:C Identity +NM_004304.5:c.2459del NP_004295.2:p.Gly820fs NC_000002.12:29233592:CC:C p.(Gly820GlufsTer11) NC_000002.12:29233592:CC:C p.(Gly820GlufsTer11) NC_000002.12:29233592:C: Analogous +NM_003038.5:c.88G>A NP_003029.2:p.Gly30Arg NC_000002.12:64989730:G:A p.(Gly30Arg) NC_000002.12:64989730:G:A p.(Gly30Arg) NC_000002.12:64989730:G:A Identity +NM_001277126.2:c.1898T>G NP_001264055.1:p.Phe633Cys NC_000019.10:53809760:A:C p.(Phe633Cys) NC_000019.10:53809760:A:C p.(Phe633Cys) NC_000019.10:53809760:A:C Identity +NM_013382.7:c.583C>G NP_037514.2:p.Leu195Val NC_000014.9:77302907:G:C p.(Leu195Val) NC_000014.9:77302907:G:C p.(Leu195Val) NC_000014.9:77302907:G:C Identity +NM_032043.3:c.289A>T NP_114432.2:p.Asn97Tyr NC_000017.11:61857147:T:A p.(Asn97Tyr) NC_000017.11:61857147:T:A p.(Asn97Tyr) NC_000017.11:61857147:T:A Identity +NM_001033855.3:c.1888A>G NP_001029027.1:p.Ile630Val NC_000010.11:14908598:T:C p.(Ile630Val) NC_000010.11:14908598:T:C p.(Ile630Val) NC_000010.11:14908598:T:C Identity +NM_001365536.1:c.1345A>G NP_001352465.1:p.Ser449Gly NC_000002.12:166286592:T:C p.(Ser449Gly) NC_000002.12:166286592:T:C p.(Ser449Gly) NC_000002.12:166286592:T:C Identity +NM_002900.3:c.2788A>T NP_002891.1:p.Ile930Leu NC_000010.11:47351271:A:T p.(Ile930Leu) NC_000010.11:47351271:A:T p.(Ile930Leu) NC_000010.11:47351271:A:T Identity +NM_001098426.2:c.119C>T NP_001091896.1:p.Pro40Leu NC_000017.11:63842555:G:A p.(Pro40Leu) NC_000017.11:63842555:G:A p.(Pro40Leu) NC_000017.11:63842555:G:A Identity +NM_001164097.2:c.4585A>G NP_001157569.1:p.Thr1529Ala NC_000005.10:83540548:A:G p.(Thr1529Ala) NC_000005.10:83540548:A:G p.(Thr1529Ala) NC_000005.10:83540548:A:G Identity +NM_001288705.3:c.533G>A NP_001275634.1:p.Ser178Asn NC_000005.10:150080110:C:T p.(Ser178Asn) NC_000005.10:150080110:C:T p.(Ser178Asn) NC_000005.10:150080110:C:T Identity +NM_000323.2:c.2141A>C NP_000314.1:p.Asp714Ala NC_000010.11:43116587:A:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001231.5:c.1066A>G NP_001222.3:p.Ser356Gly NC_000001.11:160201250:A:G p.(Ser356Gly) NC_000001.11:160201250:A:G p.(Ser356Gly) NC_000001.11:160201250:A:G Identity +NM_001379277.1:c.2550T>G NP_001366206.1:p.Asn850Lys NC_000007.14:92080037:T:G p.(Asn850Lys) NC_000007.14:92080037:T:G p.(Asn850Lys) NC_000007.14:92080037:T:G Identity +NM_001329938.2:c.914A>C NP_001316867.1:p.Asn305Thr NC_000014.9:75963327:T:G p.(Asn305Thr) NC_000014.9:75963327:T:G p.(Asn305Thr) NC_000014.9:75963327:T:G Identity +NM_001386342.1:c.1313C>G NP_001373271.1:p.Thr438Arg NC_000011.10:9968498:G:C p.(Thr438Arg) NC_000011.10:9968498:G:C p.(Thr438Arg) NC_000011.10:9968498:G:C Identity +NM_024592.5:c.920C>T NP_078868.1:p.Pro307Leu NC_000004.12:55370053:C:T p.(Pro307Leu) NC_000004.12:55370053:C:T p.(Pro307Leu) NC_000004.12:55370053:C:T Identity +NM_001376.5:c.3193G>A NP_001367.2:p.Ala1065Thr NC_000014.9:101994708:G:A p.(Ala1065Thr) NC_000014.9:101994708:G:A p.(Ala1065Thr) NC_000014.9:101994708:G:A Identity +NM_022168.4:c.2644A>C NP_071451.2:p.Met882Leu NC_000002.12:162268249:T:G p.(Met882Leu) NC_000002.12:162268249:T:G p.(Met882Leu) NC_000002.12:162268249:T:G Identity +NM_001276289.2:c.124C>G NP_001263218.1:p.Arg42Gly NC_000017.11:68515522:C:G p.(Arg42Gly) NC_000017.11:68515522:C:G p.(Arg42Gly) NC_000017.11:68515522:C:G Identity +NM_001098398.2:c.1784G>A NP_001091868.1:p.Arg595His NC_000001.11:160299174:C:T p.(Arg595His) NC_000001.11:160299174:C:T p.(Arg595His) NC_000001.11:160299174:C:T Identity +NM_000053.4:c.1233A>C NP_000044.2:p.Glu411Asp NC_000013.11:51973986:T:G p.(Glu411Asp) NC_000013.11:51973986:T:G p.(Glu411Asp) NC_000013.11:51973986:T:G Identity +NM_000329.3:c.1294A>C NP_000320.1:p.Thr432Pro NC_000001.11:68431325:T:G p.(Thr432Pro) NC_000001.11:68431325:T:G p.(Thr432Pro) NC_000001.11:68431325:T:G Identity +NM_001379500.1:c.438G>C NP_001366429.1:p.Gln146His NC_000021.9:45468572:G:C p.(Gln146His) NC_000021.9:45468572:G:C p.(Gln146His) NC_000021.9:45468572:G:C Identity +NM_003737.4:c.520C>A NP_003728.1:p.Arg174Ser NC_000011.10:6641093:G:T p.(Arg174Ser) NC_000011.10:6641093:G:T p.(Arg174Ser) NC_000011.10:6641093:G:T Identity +NM_002439.5:c.138G>C NP_002430.3:p.Gln46His NC_000005.10:80654864:G:C p.(Gln46His) NC_000005.10:80654864:G:C p.(Gln46His) NC_000005.10:80654864:G:C Identity +NM_001128855.3:c.229G>A NP_001122327.1:p.Ala77Thr NC_000019.10:17338182:G:A p.(Ala77Thr) NC_000019.10:17338182:G:A p.(Ala77Thr) NC_000019.10:17338182:G:A Identity +NM_001320641.2:c.1256C>A NP_001307570.1:p.Thr419Lys NC_000002.12:127052276:G:T p.(Thr419Lys) NC_000002.12:127052276:G:T p.(Thr419Lys) NC_000002.12:127052276:G:T Identity +NM_000429.3:c.187G>A NP_000420.1:p.Gly63Ser NC_000010.11:80284020:C:T p.(Gly63Ser) NC_000010.11:80284020:C:T p.(Gly63Ser) NC_000010.11:80284020:C:T Identity +NM_000038.6:c.605A>G NP_000029.2:p.Glu202Gly NC_000005.10:112780862:A:G p.(Glu202Gly) NC_000005.10:112780862:A:G p.(Glu202Gly) NC_000005.10:112780862:A:G Identity +NM_001199138.2:c.1972G>C NP_001186067.1:p.Glu658Gln NC_000002.12:32249891:C:G p.(Glu658Gln) NC_000002.12:32249891:C:G p.(Glu658Gln) NC_000002.12:32249891:C:G Identity +NM_001177316.2:c.715C>T NP_001170787.2:p.Leu239Phe NC_000009.12:137233362:C:T p.(Leu239Phe) NC_000009.12:137233362:C:T p.(Leu239Phe) NC_000009.12:137233362:C:T Identity +NM_001407571.1:c.2843T>G NP_001394500.1:p.Ile948Ser NC_000017.11:43092474:A:C p.(Ile948Ser) NC_000017.11:43092474:A:C p.(Ile948Ser) NC_000017.11:43092474:A:C Identity +NM_001363729.2:c.1291T>A NP_001350658.1:p.Leu431Ile NC_000020.11:36905482:A:T p.(Leu431Ile) NC_000020.11:36905482:A:T p.(Leu431Ile) NC_000020.11:36905482:A:T Identity +NM_000273.3:c.1151C>T NP_000264.2:p.Thr384Ile NC_000023.11:9725809:G:A p.(Thr384Ile) NC_000023.11:9725809:G:A p.(Thr384Ile) NC_000023.11:9725809:G:A Identity +NM_001351018.2:c.1529C>G NP_001337947.1:p.Pro510Arg NC_000012.12:122232846:G:C p.(Pro510Arg) NC_000012.12:122232846:G:C p.(Pro510Arg) NC_000012.12:122232846:G:C Identity +NM_001079878.2:c.301C>T NP_001073347.1:p.Arg101Cys NC_000002.12:98380259:C:T p.(Arg101Cys) NC_000002.12:98380259:C:T p.(Arg101Cys) NC_000002.12:98380259:C:T Identity +NM_001291285.3:c.10762A>G NP_001278214.1:p.Thr3588Ala NC_000004.12:125451771:A:G p.(Thr3588Ala) NC_000004.12:125451771:A:G p.(Thr3588Ala) NC_000004.12:125451771:A:G Identity +NM_001272003.2:c.1094C>T NP_001258932.1:p.Thr365Met NC_000009.12:135765651:C:T p.(Thr365Met) NC_000009.12:135765651:C:T p.(Thr365Met) NC_000009.12:135765651:C:T Identity +NM_001127207.2:c.668A>C NP_001120679.1:p.Gln223Pro NC_000002.12:216415371:A:C p.(Gln223Pro) NC_000002.12:216415371:A:C p.(Gln223Pro) NC_000002.12:216415371:A:C Identity +NM_000546.6:c.1054del NP_000537.3:p.Asp352fs NC_000017.11:7670654:CC:C p.(Asp352MetfsTer18) NC_000017.11:7670654:CC:C p.(Asp352MetfsTer18) NC_000017.11:7670654:C: Analogous +NM_001330588.2:c.118A>G NP_001317517.1:p.Ile40Val NC_000013.11:102597155:A:G p.(Ile40Val) NC_000013.11:102597155:A:G p.(Ile40Val) NC_000013.11:102597155:A:G Identity +NM_004369.4:c.3011A>T NP_004360.2:p.Asp1004Val NC_000002.12:237376830:T:A p.(Asp1004Val) NC_000002.12:237376830:T:A p.(Asp1004Val) NC_000002.12:237376830:T:A Identity +NM_001346418.1:c.53G>A NP_001333347.1:p.Arg18His NC_000006.12:158999923:C:T p.(Arg18His) NC_000006.12:158999923:C:T p.(Arg18His) NC_000006.12:158999923:C:T Identity +NM_001160227.2:c.3005A>C NP_001153699.1:p.Gln1002Pro NC_000015.10:44615395:T:G p.(Gln1002Pro) NC_000015.10:44615395:T:G p.(Gln1002Pro) NC_000015.10:44615395:T:G Identity +NM_001024218.2:c.158T>C NP_001019389.1:p.Ile53Thr NC_000014.9:66776477:T:C p.(Ile53Thr) NC_000014.9:66776477:T:C p.(Ile53Thr) NC_000014.9:66776477:T:C Identity +NM_014141.6:c.1366G>A NP_054860.1:p.Gly456Arg NC_000007.14:147300157:G:A p.(Gly456Arg) NC_000007.14:147300157:G:A p.(Gly456Arg) NC_000007.14:147300157:G:A Identity +NM_001350234.2:c.664C>T NP_001337163.1:p.Arg222Trp NC_000001.11:9716502:C:T p.(Arg222Trp) NC_000001.11:9716502:C:T p.(Arg222Trp) NC_000001.11:9716502:C:T Identity +NM_001008844.3:c.5140G>A NP_001008844.1:p.Glu1714Lys NC_000006.12:7584198:G:A p.(Glu1714Lys) NC_000006.12:7584198:G:A p.(Glu1714Lys) NC_000006.12:7584198:G:A Identity +NM_001378454.1:c.4610C>A NP_001365383.1:p.Ala1537Glu NC_000002.12:73451136:C:A p.(Ala1537Glu) NC_000002.12:73451136:C:A p.(Ala1537Glu) NC_000002.12:73451136:C:A Identity +NM_001084.5:c.826G>C NP_001075.1:p.Glu276Gln NC_000007.14:101212894:C:G p.(Glu276Gln) NC_000007.14:101212894:C:G p.(Glu276Gln) NC_000007.14:101212894:C:G Identity +NM_014639.4:c.1648A>G NP_055454.1:p.Ile550Val NC_000005.10:95523310:T:C p.(Ile550Val) NC_000005.10:95523310:T:C p.(Ile550Val) NC_000005.10:95523310:T:C Identity +NM_000246.4:c.2625C>G NP_000237.2:p.Ser875Arg NC_000016.10:10908116:C:G p.(Ser875Arg) NC_000016.10:10908116:C:G p.(Ser875Arg) NC_000016.10:10908116:C:G Identity +NM_001042465.3:c.1139G>A NP_001035930.1:p.Ser380Asn NC_000010.11:71819775:C:T p.(Ser380Asn) NC_000010.11:71819775:C:T p.(Ser380Asn) NC_000010.11:71819775:C:T Identity +NM_001001396.3:c.1606G>A NP_001001396.1:p.Glu536Lys NC_000001.11:203709348:G:A p.(Glu536Lys) NC_000001.11:203709348:G:A p.(Glu536Lys) NC_000001.11:203709348:G:A Identity +NM_001271999.2:c.302C>T NP_001258928.1:p.Ser101Leu NC_000001.11:62654001:G:A p.(Ser101Leu) NC_000001.11:62654001:G:A p.(Ser101Leu) NC_000001.11:62654001:G:A Identity +NM_001135040.3:c.1429C>T NP_001128512.1:p.Arg477Cys NC_000002.12:74369394:G:A p.(Arg477Cys) NC_000002.12:74369394:G:A p.(Arg477Cys) NC_000002.12:74369394:G:A Identity +NM_000021.4:c.118_120del NP_000012.1:p.Asp40del NC_000014.9:73170824:ACGAC:AC p.(Asp40del) NC_000014.9:73170824:ACGAC:AC p.(Asp40del) NC_000014.9:73170826:GAC: Identity +NM_001165963.4:c.3893G>C NP_001159435.1:p.Ser1298Thr NC_000002.12:166009827:C:G p.(Ser1298Thr) NC_000002.12:166009827:C:G p.(Ser1298Thr) NC_000002.12:166009827:C:G Identity +NM_000059.4:c.8176T>A NP_000050.3:p.Tyr2726Asn NC_000013.11:32363377:T:A p.(Tyr2726Asn) NC_000013.11:32363377:T:A p.(Tyr2726Asn) NC_000013.11:32363377:T:A Identity +NM_001103184.4:c.761G>A NP_001096654.1:p.Gly254Asp NC_000015.10:33067123:C:T p.(Gly254Asp) NC_000015.10:33067123:C:T p.(Gly254Asp) NC_000015.10:33067123:C:T Identity +NM_001363729.2:c.1492T>A NP_001350658.1:p.Phe498Ile NC_000020.11:36904167:A:T p.(Phe498Ile) NC_000020.11:36904167:A:T p.(Phe498Ile) NC_000020.11:36904167:A:T Identity +NM_001481.3:c.1A>G NP_001472.1:p.Met1Val NC_000016.10:90022721:A:G p.(Met1Val) NC_000016.10:90022721:A:G p.Met1? NC_000016.10:90022721:A:G Identity +NM_000532.5:c.274G>C NP_000523.2:p.Asp92His NC_000003.12:136255945:G:C p.(Asp92His) NC_000003.12:136255945:G:C p.(Asp92His) NC_000003.12:136255945:G:C Identity +NM_001348729.2:c.361G>C NP_001335658.1:p.Glu121Gln NC_000002.12:8813280:C:G p.(Glu121Gln) NC_000002.12:8813280:C:G p.(Glu121Gln) NC_000002.12:8813280:C:G Identity +NM_001127178.3:c.1307T>C NP_001120650.1:p.Met436Thr NC_000004.12:521247:T:C p.(Met436Thr) NC_000004.12:521247:T:C p.(Met436Thr) NC_000004.12:521247:T:C Identity +NM_007259.5:c.38A>G NP_009190.2:p.Lys13Arg NC_000001.11:150067894:A:G p.(Lys13Arg) NC_000001.11:150067894:A:G p.(Lys13Arg) NC_000001.11:150067894:A:G Identity +NM_000036.3:c.1292G>A NP_000027.3:p.Arg431His NC_000001.11:114677446:C:T p.(Arg431His) NC_000001.11:114677446:C:T p.(Arg431His) NC_000001.11:114677446:C:T Identity +NM_001318245.2:c.2876G>T NP_001305174.1:p.Arg959Leu NC_000022.11:25828864:G:T p.(Arg959Leu) NC_000022.11:25828864:G:T p.(Arg959Leu) NC_000022.11:25828864:G:T Identity +NM_012318.3:c.1466C>G NP_036450.1:p.Ser489Trp NC_000004.12:1822997:G:C p.(Ser489Trp) NC_000004.12:1822997:G:C p.(Ser489Trp) NC_000004.12:1822997:G:C Identity +NM_001972.4:c.104G>A NP_001963.1:p.Arg35Gln NC_000019.10:852911:G:A p.(Arg35Gln) NC_000019.10:852911:G:A p.(Arg35Gln) NC_000019.10:852911:G:A Identity +NM_001005407.2:c.6786T>G NP_001005407.1:p.Phe2262Leu NC_000016.10:1220735:T:G p.(Phe2262Leu) NC_000016.10:1220735:T:G p.(Phe2262Leu) NC_000016.10:1220735:T:G Identity +NM_000720.4:c.1493G>A NP_000711.1:p.Arg498Gln NC_000003.12:53718695:G:A p.(Arg498Gln) NC_000003.12:53718695:G:A p.(Arg498Gln) NC_000003.12:53718695:G:A Identity +NM_001301031.1:c.391A>G NP_001287960.1:p.Ser131Gly NC_000015.10:65624470:A:G p.(Ser131Gly) NC_000015.10:65624470:A:G p.(Ser131Gly) NC_000015.10:65624470:A:G Identity +NM_001318491.2:c.1637T>A NP_001305420.1:p.Met546Lys NC_000013.11:20643465:T:A p.(Met546Lys) NC_000013.11:20643465:T:A p.(Met546Lys) NC_000013.11:20643465:T:A Identity +NM_001371986.1:c.4622C>T NP_001358915.1:p.Thr1541Ile NC_000002.12:209904804:C:T p.(Thr1541Ile) NC_000002.12:209904804:C:T p.(Thr1541Ile) NC_000002.12:209904804:C:T Identity +NM_001352253.3:c.119G>C NP_001339182.1:p.Arg40Pro NC_000013.11:110705974:C:G p.(Arg40Pro) NC_000013.11:110705974:C:G p.(Arg40Pro) NC_000013.11:110705974:C:G Identity +NM_001037333.3:c.3625A>T NP_001032410.1:p.Lys1209Ter NC_000005.10:157392862:A:T p.(Lys1209Ter) NC_000005.10:157392862:A:T p.(Lys1209Ter) NC_000005.10:157392862:A:T Identity +NM_001193640.2:c.580C>T NP_001180569.1:p.Pro194Ser NC_000001.11:197328930:C:T p.(Pro194Ser) NC_000001.11:197328930:C:T p.(Pro194Ser) NC_000001.11:197328930:C:T Identity +NM_001039348.3:c.1333G>C NP_001034437.1:p.Val445Leu NC_000002.12:55867221:C:G p.(Val445Leu) NC_000002.12:55867221:C:G p.(Val445Leu) NC_000002.12:55867221:C:G Identity +NM_001291902.2:c.2923C>T NP_001278831.1:p.Arg975Cys NC_000011.10:68448887:C:T p.(Arg975Cys) NC_000011.10:68448887:C:T p.(Arg975Cys) NC_000011.10:68448887:C:T Identity +NM_001099952.4:c.3629G>A NP_001093422.2:p.Gly1210Asp NC_000003.12:4685159:G:A p.(Gly1210Asp) NC_000003.12:4685159:G:A p.(Gly1210Asp) NC_000003.12:4685159:G:A Identity +NM_000170.3:c.2039A>G NP_000161.2:p.His680Arg NC_000009.12:6558571:T:C p.(His680Arg) NC_000009.12:6558571:T:C p.(His680Arg) NC_000009.12:6558571:T:C Identity +NM_005530.3:c.799A>C NP_005521.1:p.Ile267Leu NC_000015.10:78165010:A:C p.(Ile267Leu) NC_000015.10:78165010:A:C p.(Ile267Leu) NC_000015.10:78165010:A:C Identity +NM_000816.3:c.189G>C NP_000807.2:p.Glu63Asp NC_000005.10:162093908:G:C p.(Glu63Asp) NC_000005.10:162093908:G:C p.(Glu63Asp) NC_000005.10:162093908:G:C Identity +NM_002900.3:c.3265A>G NP_002891.1:p.Thr1089Ala NC_000010.11:47355394:A:G p.(Thr1089Ala) NC_000010.11:47355394:A:G p.(Thr1089Ala) NC_000010.11:47355394:A:G Identity +NM_001282539.2:c.146G>C NP_001269468.1:p.Arg49Thr NC_000001.11:1815812:C:G p.(Arg49Thr) NC_000001.11:1815812:C:G p.(Arg49Thr) NC_000001.11:1815812:C:G Identity +NM_001315529.2:c.887C>T NP_001302458.1:p.Ala296Val NC_000021.9:46349716:C:T p.(Ala296Val) NC_000021.9:46349716:C:T p.(Ala296Val) NC_000021.9:46349716:C:T Identity +NM_001267623.2:c.286_287inv NP_001254552.1:p.Ser96Glu NC_000020.11:3218629:TC:GA p.(Ser96Glu) NC_000020.11:3218629:TC:GA p.(Ser96Glu) ERR:SPDI Identity +NM_000038.6:c.7132C>A NP_000029.2:p.Leu2378Ile NC_000005.10:112842725:C:A p.(Leu2378Ile) NC_000005.10:112842725:C:A p.(Leu2378Ile) NC_000005.10:112842725:C:A Identity +NM_001291285.3:c.8384G>A NP_001278214.1:p.Arg2795His NC_000004.12:125449393:G:A p.(Arg2795His) NC_000004.12:125449393:G:A p.(Arg2795His) NC_000004.12:125449393:G:A Identity +NM_020461.4:c.3302G>A NP_065194.3:p.Arg1101Gln NC_000022.11:50221056:C:T p.(Arg1101Gln) NC_000022.11:50221056:C:T p.(Arg1101Gln) NC_000022.11:50221056:C:T Identity +NM_001271933.2:c.2831G>C NP_001258862.1:p.Arg944Thr NC_000011.10:117394980:G:C p.(Arg944Thr) NC_000011.10:117394980:G:C p.(Arg944Thr) NC_000011.10:117394980:G:C Identity +NM_001326358.2:c.2187G>C NP_001313287.1:p.Leu729Phe NC_000016.10:77297386:C:G p.(Leu729Phe) NC_000016.10:77297386:C:G p.(Leu729Phe) NC_000016.10:77297386:C:G Identity +NM_000747.3:c.56C>A NP_000738.2:p.Pro19Gln NC_000017.11:7445182:C:A p.(Pro19Gln) NC_000017.11:7445182:C:A p.(Pro19Gln) NC_000017.11:7445182:C:A Identity +NM_001293557.2:c.373A>G NP_001280486.1:p.Met125Val NC_000016.10:50699867:A:G p.(Met125Val) NC_000016.10:50699867:A:G p.(Met125Val) NC_000016.10:50699867:A:G Identity +NM_000440.3:c.1051G>T NP_000431.2:p.Ala351Ser NC_000005.10:149907325:C:A p.(Ala351Ser) NC_000005.10:149907325:C:A p.(Ala351Ser) NC_000005.10:149907325:C:A Identity +NM_001271620.2:c.1342G>A NP_001258549.1:p.Ala448Thr NC_000016.10:49637629:C:T p.(Ala448Thr) NC_000016.10:49637629:C:T p.(Ala448Thr) NC_000016.10:49637629:C:T Identity +NM_001368263.1:c.670G>A NP_001355192.1:p.Gly224Ser NC_000003.12:45458805:G:A p.(Gly224Ser) NC_000003.12:45458805:G:A p.(Gly224Ser) NC_000003.12:45458805:G:A Identity +NM_001171930.2:c.2362G>T NP_001165401.1:p.Val788Leu NC_000010.11:71695489:G:T p.(Val788Leu) NC_000010.11:71695489:G:T p.(Val788Leu) NC_000010.11:71695489:G:T Identity +NM_001290307.3:c.1953A>T NP_001277236.1:p.Arg651Ser NC_000005.10:138929298:A:T p.(Arg651Ser) NC_000005.10:138929298:A:T p.(Arg651Ser) NC_000005.10:138929298:A:T Identity +NM_001320687.1:c.1880A>G NP_001307616.1:p.His627Arg NC_000015.10:68187752:A:G p.(His627Arg) NC_000015.10:68187752:A:G p.(His627Arg) NC_000015.10:68187752:A:G Identity +NM_198525.3:c.1339G>A NP_940927.2:p.Val447Ile NC_000015.10:89648358:C:T p.(Val447Ile) NC_000015.10:89648358:C:T p.(Val447Ile) NC_000015.10:89648358:C:T Identity +NM_001256850.1:c.97535T>A NP_001243779.1:p.Val32512Asp NC_000002.12:178534156:A:T p.(Val32512Asp) NC_000002.12:178534156:A:T p.(Val32512Asp) NC_000002.12:178534156:A:T Identity +NM_006612.6:c.2740C>T NP_006603.2:p.Pro914Ser NC_000017.11:5023578:C:T p.(Pro914Ser) NC_000017.11:5023578:C:T p.(Pro914Ser) NC_000017.11:5023578:C:T Identity +NM_001378454.1:c.11116T>A NP_001365383.1:p.Ser3706Thr NC_000002.12:73572992:T:A p.(Ser3706Thr) NC_000002.12:73572992:T:A p.(Ser3706Thr) NC_000002.12:73572992:T:A Identity +NM_000199.5:c.151G>A NP_000190.1:p.Asp51Asn NC_000017.11:80217129:C:T p.(Asp51Asn) NC_000017.11:80217129:C:T p.(Asp51Asn) NC_000017.11:80217129:C:T Identity +NM_000285.4:c.880G>A NP_000276.2:p.Ala294Thr NC_000019.10:33401807:C:T p.(Ala294Thr) NC_000019.10:33401807:C:T p.(Ala294Thr) NC_000019.10:33401807:C:T Identity +NM_001291285.3:c.14473T>C NP_001278214.1:p.Ser4825Pro NC_000004.12:125491291:T:C p.(Ser4825Pro) NC_000004.12:125491291:T:C p.(Ser4825Pro) NC_000004.12:125491291:T:C Identity +NM_000722.4:c.3212A>C NP_000713.2:p.Tyr1071Ser NC_000007.14:81950455:T:G p.(Tyr1071Ser) NC_000007.14:81950455:T:G p.(Tyr1071Ser) NC_000007.14:81950455:T:G Identity +NM_020800.3:c.92G>A NP_065851.1:p.Cys31Tyr NC_000003.12:160381669:C:T p.(Cys31Tyr) NC_000003.12:160381669:C:T p.(Cys31Tyr) NC_000003.12:160381669:C:T Identity +NM_001190799.2:c.2314G>A NP_001177728.1:p.Gly772Arg NC_000004.12:127893599:G:A p.(Gly772Arg) NC_000004.12:127893599:G:A p.(Gly772Arg) NC_000004.12:127893599:G:A Identity +NM_001244008.2:c.3379A>C NP_001230937.1:p.Ile1127Leu NC_000002.12:240745512:T:G p.(Ile1127Leu) NC_000002.12:240745512:T:G p.(Ile1127Leu) NC_000002.12:240745512:T:G Identity +NM_006204.4:c.2289G>A NP_006195.3:p.Met763Ile NC_000010.11:93662564:G:A p.(Met763Ile) NC_000010.11:93662564:G:A p.(Met763Ile) NC_000010.11:93662564:G:A Identity +NM_001077397.1:c.1570_1573dup NP_001070865.1:p.Gln525fs NC_000001.11:234607279:GCTG:GCTGGCTG p.(Gln525ProfsTer5) NC_000001.11:234607279:GCTG:GCTGGCTG p.(Gln525ProfsTer5) ERR:SPDI Analogous +NM_001256850.1:c.21773_21774dup NP_001243779.1:p.Lys7259fs NC_000002.12:178721937:AA:AAAA p.(Lys7259LeufsTer3) NC_000002.12:178721937:AA:AAAA p.(Lys7259LeufsTer3) ERR:SPDI Analogous +NM_000096.4:c.1868T>C NP_000087.2:p.Met623Thr NC_000003.12:149186728:A:G p.(Met623Thr) NC_000003.12:149186728:A:G p.(Met623Thr) NC_000003.12:149186728:A:G Identity +NM_025074.7:c.7066C>T NP_079350.5:p.Arg2356Cys NC_000004.12:78466243:C:T p.(Arg2356Cys) NC_000004.12:78466243:C:T p.(Arg2356Cys) NC_000004.12:78466243:C:T Identity +NM_000445.5:c.6768G>T NP_000436.2:p.Glu2256Asp NC_000008.11:143923241:C:A p.(Glu2256Asp) NC_000008.11:143923241:C:A p.(Glu2256Asp) NC_000008.11:143923241:C:A Identity +NM_000721.4:c.4258G>A NP_000712.2:p.Ala1420Thr NC_000001.11:181757054:G:A p.(Ala1420Thr) NC_000001.11:181757054:G:A p.(Ala1420Thr) NC_000001.11:181757054:G:A Identity +NM_001136536.5:c.1657G>T NP_001130008.2:p.Asp553Tyr NC_000004.12:36343629:G:T p.(Asp553Tyr) NC_000004.12:36343629:G:T p.(Asp553Tyr) NC_000004.12:36343629:G:T Identity +NM_001347827.2:c.1189C>A NP_001334756.1:p.Gln397Lys NC_000004.12:54270699:C:A p.(Gln397Lys) NC_000004.12:54270699:C:A p.(Gln397Lys) NC_000004.12:54270699:C:A Identity +NM_001379500.1:c.3227G>C NP_001366429.1:p.Arg1076Pro NC_000021.9:45507570:G:C p.(Arg1076Pro) NC_000021.9:45507570:G:C p.(Arg1076Pro) NC_000021.9:45507570:G:C Identity +NM_001306079.2:c.3050C>T NP_001293008.1:p.Thr1017Ile NC_000002.12:27233647:C:T p.(Thr1017Ile) NC_000002.12:27233647:C:T p.(Thr1017Ile) NC_000002.12:27233647:C:T Identity +NM_004525.3:c.13573A>G NP_004516.2:p.Met4525Val NC_000002.12:169137438:T:C p.(Met4525Val) NC_000002.12:169137438:T:C p.(Met4525Val) NC_000002.12:169137438:T:C Identity +NM_005120.3:c.3109A>G NP_005111.2:p.Thr1037Ala NC_000023.11:71128019:A:G p.(Thr1037Ala) NC_000023.11:71128019:A:G p.(Thr1037Ala) NC_000023.11:71128019:A:G Identity +NM_001068.3:c.55G>A NP_001059.2:p.Ala19Thr NC_000003.12:25664242:C:T p.(Ala19Thr) NC_000003.12:25664242:C:T p.(Ala19Thr) NC_000003.12:25664242:C:T Identity +NM_000251.3:c.716A>T NP_000242.1:p.Gln239Leu NC_000002.12:47412483:A:T p.(Gln239Leu) NC_000002.12:47412483:A:T p.(Gln239Leu) NC_000002.12:47412483:A:T Identity +NM_000632.4:c.730G>A NP_000623.2:p.Gly244Arg NC_000016.10:31273389:G:A p.(Gly244Arg) NC_000016.10:31273389:G:A p.(Gly244Arg) NC_000016.10:31273389:G:A Identity +NM_001271466.4:c.449C>G NP_001258395.2:p.Ala150Gly NC_000002.12:231216737:C:G p.(Ala150Gly) NC_000002.12:231216737:C:G p.(Ala150Gly) NC_000002.12:231216737:C:G Identity +NM_000170.3:c.2885G>A NP_000161.2:p.Arg962Gln NC_000009.12:6534741:C:T p.(Arg962Gln) NC_000009.12:6534741:C:T p.(Arg962Gln) NC_000009.12:6534741:C:T Identity +NM_001197330.2:c.1069G>A NP_001184259.1:p.Glu357Lys NC_000014.9:49654053:C:T p.(Glu357Lys) NC_000014.9:49654053:C:T p.(Glu357Lys) NC_000014.9:49654053:C:T Identity +NM_000282.4:c.1729A>G NP_000273.2:p.Asn577Asp NC_000013.11:100368556:A:G p.(Asn577Asp) NC_000013.11:100368556:A:G p.(Asn577Asp) NC_000013.11:100368556:A:G Identity +NM_001141973.3:c.1882G>T NP_001135445.1:p.Ala628Ser NC_000001.11:16992350:C:A p.(Ala628Ser) NC_000001.11:16992350:C:A p.(Ala628Ser) NC_000001.11:16992350:C:A Identity +NM_001077516.2:c.568C>G NP_001070984.1:p.Pro190Ala NC_000006.12:33201900:C:G p.(Pro190Ala) NC_000006.12:33201900:C:G p.(Pro190Ala) NC_000006.12:33201900:C:G Identity +NM_001191028.3:c.1531G>T NP_001177957.2:p.Asp511Tyr NC_000007.14:128984226:C:A p.(Asp511Tyr) NC_000007.14:128984226:C:A p.(Asp511Tyr) NC_000007.14:128984226:C:A Identity +NM_001080467.3:c.2945AGG[2] NP_001073936.1:p.Glu984del NC_000018.10:49895032:CCTCCTCCT:CCTCCT p.(Glu984del) NC_000018.10:49895040:T:CCTCCT ERR:Parse ERR:Parse Identity +NM_001040142.2:c.4462A>G NP_001035232.1:p.Ile1488Val NC_000002.12:165381107:A:G p.(Ile1488Val) NC_000002.12:165381107:A:G p.(Ile1488Val) NC_000002.12:165381107:A:G Identity +NM_000383.4:c.1447C>A NP_000374.1:p.Pro483Thr NC_000021.9:44294446:C:A p.(Pro483Thr) NC_000021.9:44294446:C:A p.(Pro483Thr) NC_000021.9:44294446:C:A Identity +NM_000459.5:c.1354A>G NP_000450.3:p.Asn452Asp NC_000009.12:27190554:A:G p.(Asn452Asp) NC_000009.12:27190554:A:G p.(Asn452Asp) NC_000009.12:27190554:A:G Identity +NM_001173408.2:c.2549G>A NP_001166879.1:p.Ser850Asn NC_000002.12:219563485:C:T p.(Ser850Asn) NC_000002.12:219563485:C:T p.(Ser850Asn) NC_000002.12:219563485:C:T Identity +NM_001065.4:c.1037A>G NP_001056.1:p.His346Arg NC_000012.12:6329797:T:C p.(His346Arg) NC_000012.12:6329797:T:C p.(His346Arg) NC_000012.12:6329797:T:C Identity +NM_170606.3:c.13905T>A NP_733751.2:p.Asp4635Glu NC_000007.14:152146724:A:T p.(Asp4635Glu) NC_000007.14:152146724:A:T p.(Asp4635Glu) NC_000007.14:152146724:A:T Identity +NM_024649.5:c.445C>T NP_078925.3:p.Pro149Ser NC_000011.10:66515551:C:T p.(Pro149Ser) NC_000011.10:66515551:C:T p.(Pro149Ser) NC_000011.10:66515551:C:T Identity +NM_003128.3:c.2780A>G NP_003119.2:p.Lys927Arg NC_000002.12:54630001:A:G p.(Lys927Arg) NC_000002.12:54630001:A:G p.(Lys927Arg) NC_000002.12:54630001:A:G Identity +NM_001942.4:c.1762G>A NP_001933.2:p.Glu588Lys NC_000018.10:31343523:G:A p.(Glu588Lys) NC_000018.10:31343523:G:A p.(Glu588Lys) NC_000018.10:31343523:G:A Identity +NM_000439.5:c.1292C>A NP_000430.3:p.Ala431Glu NC_000005.10:96400090:G:T p.(Ala431Glu) NC_000005.10:96400090:G:T p.(Ala431Glu) NC_000005.10:96400090:G:T Identity +NM_020461.4:c.3031C>T NP_065194.3:p.Arg1011Cys NC_000022.11:50221327:G:A p.(Arg1011Cys) NC_000022.11:50221327:G:A p.(Arg1011Cys) NC_000022.11:50221327:G:A Identity +NM_001349253.2:c.1294A>G NP_001336182.1:p.Lys432Glu NC_000003.12:38909001:T:C p.(Lys432Glu) NC_000003.12:38909001:T:C p.(Lys432Glu) NC_000003.12:38909001:T:C Identity +NM_001172477.1:c.430T>C NP_001165948.1:p.Ser144Pro NC_000008.11:102226024:A:G p.(Ser144Pro) NC_000008.11:102226024:A:G p.(Ser144Pro) NC_000008.11:102226024:A:G Identity +NM_016247.4:c.3172C>G NP_057331.2:p.Pro1058Ala NC_000003.12:101232841:G:C p.(Pro1058Ala) NC_000003.12:101232841:G:C p.(Pro1058Ala) NC_000003.12:101232841:G:C Identity +NM_001289905.2:c.2101G>A NP_001276834.1:p.Ala701Thr NC_000022.11:17109421:G:A p.(Ala701Thr) NC_000022.11:17109421:G:A p.(Ala701Thr) NC_000022.11:17109421:G:A Identity +NM_000249.4:c.722A>C NP_000240.1:p.Lys241Thr NC_000003.12:37014475:A:C p.(Lys241Thr) NC_000003.12:37014475:A:C p.(Lys241Thr) NC_000003.12:37014475:A:C Identity +NM_001282424.3:c.2414G>C NP_001269353.2:p.Gly805Ala NC_000012.12:8868010:G:C p.(Gly805Ala) NC_000012.12:8868010:G:C p.(Gly805Ala) NC_000012.12:8868010:G:C Identity +NM_001306079.2:c.4697C>A NP_001293008.1:p.Ala1566Glu NC_000002.12:27238455:C:A p.(Ala1566Glu) NC_000002.12:27238455:C:A p.(Ala1566Glu) NC_000002.12:27238455:C:A Identity +NM_001080522.2:c.4724T>C NP_001073991.2:p.Ile1575Thr NC_000004.12:15601285:T:C p.(Ile1575Thr) NC_000004.12:15601285:T:C p.(Ile1575Thr) NC_000004.12:15601285:T:C Identity +NM_001258384.3:c.875C>T NP_001245313.1:p.Pro292Leu NC_000020.11:2660069:G:A p.(Pro292Leu) NC_000020.11:2660069:G:A p.(Pro292Leu) NC_000020.11:2660069:G:A Identity +NM_001329556.3:c.478G>A NP_001316485.1:p.Gly160Arg NC_000019.10:1496413:G:A p.(Gly160Arg) NC_000019.10:1496413:G:A p.(Gly160Arg) NC_000019.10:1496413:G:A Identity +NM_001135040.3:c.2336A>G NP_001128512.1:p.Lys779Arg NC_000002.12:74366852:T:C p.(Lys779Arg) NC_000002.12:74366852:T:C p.(Lys779Arg) NC_000002.12:74366852:T:C Identity +NM_004356.4:c.199G>A NP_004347.1:p.Ala67Thr NC_000011.10:2394111:G:A p.(Ala67Thr) NC_000011.10:2394111:G:A p.(Ala67Thr) NC_000011.10:2394111:G:A Identity +NM_001048171.2:c.739C>A NP_001041636.2:p.Pro247Thr NC_000001.11:45332275:G:T p.(Pro247Thr) NC_000001.11:45332275:G:T p.(Pro247Thr) NC_000001.11:45332275:G:T Identity +NM_001032282.4:c.772C>T NP_001027453.1:p.Pro258Ser NC_000008.11:102651526:G:A p.(Pro258Ser) NC_000008.11:102651526:G:A p.(Pro258Ser) NC_000008.11:102651526:G:A Identity +NM_000719.7:c.241C>T NP_000710.5:p.Arg81Trp NC_000012.12:2115414:C:T p.(Arg81Trp) NC_000012.12:2115414:C:T p.(Arg81Trp) NC_000012.12:2115414:C:T Identity +NM_005429.5:c.1156C>T NP_005420.1:p.Arg386Trp NC_000004.12:176684029:G:A p.(Arg386Trp) NC_000004.12:176684029:G:A p.(Arg386Trp) NC_000004.12:176684029:G:A Identity +NM_198525.3:c.3226T>A NP_940927.2:p.Leu1076Met NC_000015.10:89630378:A:T p.(Leu1076Met) NC_000015.10:89630378:A:T p.(Leu1076Met) NC_000015.10:89630378:A:T Identity +NM_001378454.1:c.245C>T NP_001365383.1:p.Ala82Val NC_000002.12:73386112:C:T p.(Ala82Val) NC_000002.12:73386112:C:T p.(Ala82Val) NC_000002.12:73386112:C:T Identity +NM_001352385.2:c.662A>G NP_001339314.1:p.Lys221Arg NC_000020.11:44995225:A:G p.(Lys221Arg) NC_000020.11:44995225:A:G p.(Lys221Arg) NC_000020.11:44995225:A:G Identity +NM_000251.3:c.2315C>A NP_000242.1:p.Thr772Lys NC_000002.12:47478375:C:A p.(Thr772Lys) NC_000002.12:47478375:C:A p.(Thr772Lys) NC_000002.12:47478375:C:A Identity +NM_000540.3:c.5134G>A NP_000531.2:p.Asp1712Asn NC_000019.10:38485788:G:A p.(Asp1712Asn) NC_000019.10:38485788:G:A p.(Asp1712Asn) NC_000019.10:38485788:G:A Identity +NM_000814.6:c.982A>C NP_000805.1:p.Asn328His NC_000015.10:26561029:T:G p.(Asn328His) NC_000015.10:26561029:T:G p.(Asn328His) NC_000015.10:26561029:T:G Identity +NM_014510.3:c.7015G>A NP_055325.2:p.Val2339Met NC_000007.14:82953937:C:T p.(Val2339Met) NC_000007.14:82953937:C:T p.(Val2339Met) NC_000007.14:82953937:C:T Identity +NM_001024218.2:c.1633G>A NP_001019389.1:p.Gly545Ser NC_000014.9:67122360:G:A p.(Gly545Ser) NC_000014.9:67122360:G:A p.(Gly545Ser) NC_000014.9:67122360:G:A Identity +NM_001145138.2:c.1486G>T NP_001138610.1:p.Ala496Ser NC_000011.10:65654538:C:A p.(Ala496Ser) NC_000011.10:65654538:C:A p.(Ala496Ser) NC_000011.10:65654538:C:A Identity +NM_005245.4:c.2016G>C NP_005236.2:p.Leu672Phe NC_000004.12:186707811:C:G p.(Leu672Phe) NC_000004.12:186707811:C:G p.(Leu672Phe) NC_000004.12:186707811:C:G Identity +NM_001001563.5:c.916G>A NP_001001563.2:p.Asp306Asn NC_000019.10:39488600:G:A p.(Asp306Asn) NC_000019.10:39488600:G:A p.(Asp306Asn) NC_000019.10:39488600:G:A Identity +NM_000540.3:c.1916A>G NP_000531.2:p.Tyr639Cys NC_000019.10:38457620:A:G p.(Tyr639Cys) NC_000019.10:38457620:A:G p.(Tyr639Cys) NC_000019.10:38457620:A:G Identity +NM_001145853.1:c.2606G>A NP_001139325.1:p.Ser869Asn NC_000004.12:6302400:G:A p.(Ser869Asn) NC_000004.12:6302400:G:A p.(Ser869Asn) NC_000004.12:6302400:G:A Identity +NM_001172631.3:c.3784G>A NP_001166102.1:p.Val1262Ile NC_000014.9:102465283:G:A p.(Val1262Ile) NC_000014.9:102465283:G:A p.(Val1262Ile) NC_000014.9:102465283:G:A Identity +NM_025114.4:c.961G>A NP_079390.3:p.Asp321Asn NC_000012.12:88126419:C:T p.(Asp321Asn) NC_000012.12:88126419:C:T p.(Asp321Asn) NC_000012.12:88126419:C:T Identity +NM_017780.4:c.6632C>A NP_060250.2:p.Ala2211Asp NC_000008.11:60853356:C:A p.(Ala2211Asp) NC_000008.11:60853356:C:A p.(Ala2211Asp) NC_000008.11:60853356:C:A Identity +NM_139058.3:c.389C>T NP_620689.1:p.Pro130Leu NC_000023.11:25013605:G:A p.(Pro130Leu) NC_000023.11:25013605:G:A p.(Pro130Leu) NC_000023.11:25013605:G:A Identity +NM_000033.4:c.1891T>C NP_000024.2:p.Cys631Arg NC_000023.11:153743245:T:C p.(Cys631Arg) NC_000023.11:153743245:T:C p.(Cys631Arg) NC_000023.11:153743245:T:C Identity +NM_000441.2:c.335C>T NP_000432.1:p.Pro112Leu NC_000007.14:107672167:C:T p.(Pro112Leu) NC_000007.14:107672167:C:T p.(Pro112Leu) NC_000007.14:107672167:C:T Identity +NM_003172.4:c.56C>T NP_003163.1:p.Ala19Val NC_000009.12:133356318:G:A p.(Ala19Val) NC_000009.12:133356318:G:A p.(Ala19Val) NC_000009.12:133356318:G:A Identity +NM_003482.4:c.15397T>C NP_003473.3:p.Cys5133Arg NC_000012.12:49026568:A:G p.(Cys5133Arg) NC_000012.12:49026568:A:G p.(Cys5133Arg) NC_000012.12:49026568:A:G Identity +NM_001365819.1:c.959A>G NP_001352748.1:p.His320Arg NC_000022.11:50466015:T:C p.(His320Arg) NC_000022.11:50466015:T:C p.(His320Arg) NC_000022.11:50466015:T:C Identity +NM_014510.3:c.12665C>T NP_055325.2:p.Ser4222Phe NC_000007.14:82915320:G:A p.(Ser4222Phe) NC_000007.14:82915320:G:A p.(Ser4222Phe) NC_000007.14:82915320:G:A Identity +NM_001324281.3:c.2752C>T NP_001311210.1:p.Arg918Trp NC_000007.14:2915323:G:A p.(Arg918Trp) NC_000007.14:2915323:G:A p.(Arg918Trp) NC_000007.14:2915323:G:A Identity +NM_020987.5:c.10990G>A NP_066267.2:p.Asp3664Asn NC_000010.11:60069890:C:T p.(Asp3664Asn) NC_000010.11:60069890:C:T p.(Asp3664Asn) NC_000010.11:60069890:C:T Identity +NM_004104.5:c.1408T>A NP_004095.4:p.Tyr470Asn NC_000017.11:82091305:A:T p.(Tyr470Asn) NC_000017.11:82091305:A:T p.(Tyr470Asn) NC_000017.11:82091305:A:T Identity +NM_000784.4:c.1394G>T NP_000775.1:p.Gly465Val NC_000002.12:218814674:G:T p.(Gly465Val) NC_000002.12:218814674:G:T p.(Gly465Val) NC_000002.12:218814674:G:T Identity +NM_024408.4:c.4939G>T NP_077719.2:p.Ala1647Ser NC_000001.11:119922698:C:A p.(Ala1647Ser) NC_000001.11:119922698:C:A p.(Ala1647Ser) NC_000001.11:119922698:C:A Identity +NM_004553.6:c.335dup NP_004544.1:p.Cys112fs NC_000005.10:1815875:G:GG p.(Cys112TrpfsTer27) NC_000005.10:1815875:G:GG p.(Cys112TrpfsTer27) ERR:SPDI Analogous +NM_000539.3:c.458C>T NP_000530.1:p.Ala153Val NC_000003.12:129530971:C:T p.(Ala153Val) NC_000003.12:129530971:C:T p.(Ala153Val) NC_000003.12:129530971:C:T Identity +NM_000052.7:c.737A>C NP_000043.4:p.Lys246Thr NC_000023.11:77989358:A:C p.(Lys246Thr) NC_000023.11:77989358:A:C p.(Lys246Thr) NC_000023.11:77989358:A:C Identity +NM_001037537.2:c.88C>A NP_001032626.1:p.Leu30Ile NC_000010.11:13294453:G:T p.(Leu30Ile) NC_000010.11:13294453:G:T p.(Leu30Ile) NC_000010.11:13294453:G:T Identity +NM_001042692.3:c.1411G>A NP_001036157.1:p.Asp471Asn NC_000002.12:63259333:C:T p.(Asp471Asn) NC_000002.12:63259333:C:T p.(Asp471Asn) NC_000002.12:63259333:C:T Identity +NM_005908.4:c.847A>C NP_005899.3:p.Lys283Gln NC_000004.12:102690597:T:G p.(Lys283Gln) NC_000004.12:102690597:T:G p.(Lys283Gln) NC_000004.12:102690597:T:G Identity +NM_001330209.2:c.1117G>T NP_001317138.1:p.Val373Phe NC_000023.11:13756592:G:T p.(Val373Phe) NC_000023.11:13756592:G:T p.(Val373Phe) NC_000023.11:13756592:G:T Identity +NM_001171930.2:c.995C>A NP_001165401.1:p.Thr332Lys NC_000010.11:71617253:C:A p.(Thr332Lys) NC_000010.11:71617253:C:A p.(Thr332Lys) NC_000010.11:71617253:C:A Identity +NM_001999.4:c.6814T>G NP_001990.2:p.Phe2272Val NC_000005.10:128287373:A:C p.(Phe2272Val) NC_000005.10:128287373:A:C p.(Phe2272Val) NC_000005.10:128287373:A:C Identity +NM_014053.4:c.317G>A NP_054772.1:p.Arg106Gln NC_000001.11:212858768:G:A p.(Arg106Gln) NC_000001.11:212858768:G:A p.(Arg106Gln) NC_000001.11:212858768:G:A Identity +NM_001320923.2:c.599A>T NP_001307852.1:p.Tyr200Phe NC_000001.11:64869358:T:A p.(Tyr200Phe) NC_000001.11:64869358:T:A p.(Tyr200Phe) NC_000001.11:64869358:T:A Identity +NM_144643.4:c.905G>A NP_653244.2:p.Arg302Lys NC_000004.12:128959741:C:T p.(Arg302Lys) NC_000004.12:128959741:C:T p.(Arg302Lys) NC_000004.12:128959741:C:T Identity +NM_014804.3:c.385T>C NP_055619.2:p.Ser129Pro NC_000017.11:6628449:A:G p.(Ser129Pro) NC_000017.11:6628449:A:G p.(Ser129Pro) NC_000017.11:6628449:A:G Identity +NM_001317184.2:c.557G>A NP_001304113.1:p.Gly186Asp NC_000016.10:68808717:G:A p.(Gly186Asp) NC_000016.10:68808717:G:A p.(Gly186Asp) NC_000016.10:68808717:G:A Identity +NM_001079812.3:c.3766A>T NP_001073280.1:p.Lys1256Ter NC_000005.10:141516876:T:A p.(Lys1256Ter) NC_000005.10:141516876:T:A p.(Lys1256Ter) NC_000005.10:141516876:T:A Identity +NM_001123066.4:c.1578_1579del NP_001116538.2:p.Asp528fs NC_000017.11:45996414:AG: p.(Asp528SerfsTer71) NC_000017.11:45996414:AG: p.(Asp528SerfsTer71) NC_000017.11:45996414:AG: Analogous +NM_001282225.2:c.1306A>G NP_001269154.1:p.Met436Val NC_000022.11:17181955:T:C p.(Met436Val) NC_000022.11:17181955:T:C p.(Met436Val) NC_000022.11:17181955:T:C Identity +NM_001317184.2:c.509C>T NP_001304113.1:p.Pro170Leu NC_000016.10:68808544:C:T p.(Pro170Leu) NC_000016.10:68808544:C:T p.(Pro170Leu) NC_000016.10:68808544:C:T Identity +NM_024105.4:c.133C>A NP_077010.1:p.Leu45Met NC_000022.11:49913632:G:T p.(Leu45Met) NC_000022.11:49913632:G:T p.(Leu45Met) NC_000022.11:49913632:G:T Identity +NM_001303256.3:c.238A>G NP_001290185.1:p.Ser80Gly NC_000022.11:30949830:T:C p.(Ser80Gly) NC_000022.11:30949830:T:C p.(Ser80Gly) NC_000022.11:30949830:T:C Identity +NM_001098426.2:c.137G>A NP_001091896.1:p.Gly46Asp NC_000017.11:63842537:C:T p.(Gly46Asp) NC_000017.11:63842537:C:T p.(Gly46Asp) NC_000017.11:63842537:C:T Identity +NM_001006600.3:c.762C>G NP_001006600.1:p.Asn254Lys NC_000005.10:66024394:C:G p.(Asn254Lys) NC_000005.10:66024394:C:G p.(Asn254Lys) NC_000005.10:66024394:C:G Identity +NM_001349896.1:c.1504G>A NP_001336825.1:p.Ala502Thr NC_000022.11:26464125:C:T p.(Ala502Thr) NC_000022.11:26464125:C:T p.(Ala502Thr) NC_000022.11:26464125:C:T Identity +NM_001004334.4:c.5660A>C NP_001004334.3:p.Gln1887Pro NC_000017.11:38327908:T:G p.(Gln1887Pro) NC_000017.11:38327908:T:G p.(Gln1887Pro) NC_000017.11:38327908:T:G Identity +NM_001378120.1:c.4703A>G NP_001365049.1:p.His1568Arg NC_000002.12:148490334:A:G p.(His1568Arg) NC_000002.12:148490334:A:G p.(His1568Arg) NC_000002.12:148490334:A:G Identity +NM_001243342.2:c.1537C>T NP_001230271.1:p.His513Tyr NC_000017.11:80065580:C:T p.(His513Tyr) NC_000017.11:80065580:C:T p.(His513Tyr) NC_000017.11:80065580:C:T Identity +NM_015909.4:c.2687G>C NP_056993.2:p.Arg896Thr NC_000002.12:15417602:C:G p.(Arg896Thr) NC_000002.12:15417602:C:G p.(Arg896Thr) NC_000002.12:15417602:C:G Identity +NM_000075.4:c.134G>A NP_000066.1:p.Gly45Asp NC_000012.12:57751583:C:T p.(Gly45Asp) NC_000012.12:57751583:C:T p.(Gly45Asp) NC_000012.12:57751583:C:T Identity +NM_003054.6:c.670G>A NP_003045.2:p.Ala224Thr NC_000010.11:117254466:G:A p.(Ala224Thr) NC_000010.11:117254466:G:A p.(Ala224Thr) NC_000010.11:117254466:G:A Identity +NM_001130110.2:c.59T>C NP_001123582.1:p.Leu20Pro NC_000018.10:44701404:T:C p.(Leu20Pro) NC_000018.10:44701404:T:C p.(Leu20Pro) NC_000018.10:44701404:T:C Identity +NM_032119.4:c.12155C>A NP_115495.3:p.Pro4052His NC_000005.10:90763338:C:A p.(Pro4052His) NC_000005.10:90763338:C:A p.(Pro4052His) NC_000005.10:90763338:C:A Identity +NM_001305005.3:c.518C>A NP_001291934.1:p.Thr173Asn NC_000002.12:107997906:C:A p.(Thr173Asn) NC_000002.12:107997906:C:A p.(Thr173Asn) NC_000002.12:107997906:C:A Identity +NM_001080976.3:c.2752A>G NP_001074445.1:p.Met918Val NC_000006.12:116437219:A:G p.(Met918Val) NC_000006.12:116437219:A:G p.(Met918Val) NC_000006.12:116437219:A:G Identity +NM_133497.4:c.623A>G NP_598004.1:p.Asp208Gly NC_000009.12:2718361:A:G p.(Asp208Gly) NC_000009.12:2718361:A:G p.(Asp208Gly) NC_000009.12:2718361:A:G Identity +NM_001081955.3:c.1972C>T NP_001075424.1:p.Arg658Trp NC_000017.11:65227362:C:T p.(Arg658Trp) NC_000017.11:65227362:C:T p.(Arg658Trp) NC_000017.11:65227362:C:T Identity +NM_001365360.2:c.1157G>A NP_001352289.1:p.Arg386Gln NC_000016.10:28843101:C:T p.(Arg386Gln) NC_000016.10:28843101:C:T p.(Arg386Gln) NC_000016.10:28843101:C:T Identity +NM_001006600.3:c.3286C>T NP_001006600.1:p.Arg1096Trp NC_000005.10:66054603:C:T p.(Arg1096Trp) NC_000005.10:66054603:C:T p.(Arg1096Trp) NC_000005.10:66054603:C:T Identity +NM_001141973.3:c.1747G>A NP_001135445.1:p.Glu583Lys NC_000001.11:16992568:C:T p.(Glu583Lys) NC_000001.11:16992568:C:T p.(Glu583Lys) NC_000001.11:16992568:C:T Identity +NM_001190458.2:c.5390C>T NP_001177387.1:p.Thr1797Ile NC_000009.12:446478:C:T p.(Thr1797Ile) NC_000009.12:446478:C:T p.(Thr1797Ile) NC_000009.12:446478:C:T Identity +NM_015295.3:c.3608G>C NP_056110.2:p.Ser1203Thr NC_000018.10:2740795:G:C p.(Ser1203Thr) NC_000018.10:2740795:G:C p.(Ser1203Thr) NC_000018.10:2740795:G:C Identity +NM_001365212.1:c.1507G>A NP_001352141.1:p.Ala503Thr NC_000001.11:173853890:G:A p.(Ala503Thr) NC_000001.11:173853890:G:A p.(Ala503Thr) NC_000001.11:173853890:G:A Identity +NM_001178010.2:c.41T>C NP_001171481.1:p.Val14Ala NC_000022.11:19480008:T:C p.(Val14Ala) NC_000022.11:19480008:T:C p.(Val14Ala) NC_000022.11:19480008:T:C Identity +NM_001330166.2:c.85A>G NP_001317095.1:p.Asn29Asp NC_000017.11:28548065:T:C p.(Asn29Asp) NC_000017.11:28548065:T:C p.(Asn29Asp) NC_000017.11:28548065:T:C Identity +NM_025114.4:c.4931T>A NP_079390.3:p.Leu1644Gln NC_000012.12:88083111:A:T p.(Leu1644Gln) NC_000012.12:88083111:A:T p.(Leu1644Gln) NC_000012.12:88083111:A:T Identity +NM_020223.4:c.674A>G NP_064608.2:p.Asn225Ser NC_000007.14:195621:A:G p.(Asn225Ser) NC_000007.14:195621:A:G p.(Asn225Ser) NC_000007.14:195621:A:G Identity +NM_000535.7:c.1774C>A NP_000526.2:p.Gln592Lys NC_000007.14:5986990:G:T p.(Gln592Lys) NC_000007.14:5986990:G:T p.(Gln592Lys) NC_000007.14:5986990:G:T Identity +NM_001308133.2:c.1499T>A NP_001295062.1:p.Leu500Gln NC_000014.9:45159275:T:A p.(Leu500Gln) NC_000014.9:45159275:T:A p.(Leu500Gln) NC_000014.9:45159275:T:A Identity +NM_001165928.4:c.1379C>T NP_001159400.3:p.Pro460Leu NC_000003.12:49531889:C:T p.(Pro460Leu) NC_000003.12:49531889:C:T p.(Pro460Leu) NC_000003.12:49531889:C:T Identity +NM_000271.5:c.1495A>G NP_000262.2:p.Lys499Glu NC_000018.10:23554815:T:C p.(Lys499Glu) NC_000018.10:23554815:T:C p.(Lys499Glu) NC_000018.10:23554815:T:C Identity +NM_001287489.2:c.4324G>A NP_001274418.1:p.Gly1442Ser NC_000002.12:26467136:C:T p.(Gly1442Ser) NC_000002.12:26467136:C:T p.(Gly1442Ser) NC_000002.12:26467136:C:T Identity +NM_001144769.5:c.4982C>T NP_001138241.1:p.Thr1661Ile NC_000006.12:56611573:G:A p.(Thr1661Ile) NC_000006.12:56611573:G:A p.(Thr1661Ile) NC_000006.12:56611573:G:A Identity +NM_001363227.2:c.1813G>A NP_001350156.1:p.Gly605Arg NC_000008.11:43197951:G:A p.(Gly605Arg) NC_000008.11:43197951:G:A p.(Gly605Arg) NC_000008.11:43197951:G:A Identity +NM_000287.4:c.508T>C NP_000278.3:p.Ser170Pro NC_000006.12:42978642:A:G p.(Ser170Pro) NC_000006.12:42978642:A:G p.(Ser170Pro) NC_000006.12:42978642:A:G Identity +NM_001173431.2:c.4603G>A NP_001166902.1:p.Val1535Met NC_000002.12:219556025:C:T p.(Val1535Met) NC_000002.12:219556025:C:T p.(Val1535Met) NC_000002.12:219556025:C:T Identity +NM_015120.4:c.6661A>G NP_055935.4:p.Asn2221Asp NC_000002.12:73453184:A:G ERR:TranscriptMismatch:expected A, found G at transcript indices 6771..6772 NC_000002.12:73453187:G:G ERR:NM_015120.4:c.6661A>G: Variant reference (A) does not agree with reference sequence (G) ERR:NM_015120.4:c.6661A>G: Variant reference (A) does not agree with reference sequence (G) Unknown +NM_001130438.3:c.3956A>G NP_001123910.1:p.Gln1319Arg NC_000009.12:128605386:A:G p.(Gln1319Arg) NC_000009.12:128605386:A:G p.(Gln1319Arg) NC_000009.12:128605386:A:G Identity +NM_006059.4:c.52G>T NP_006050.3:p.Ala18Ser NC_000009.12:131009265:G:T p.(Ala18Ser) NC_000009.12:131009265:G:T p.(Ala18Ser) NC_000009.12:131009265:G:T Identity +NM_001261406.2:c.3812C>T NP_001248335.1:p.Ala1271Val NC_000009.12:13140078:G:A p.(Ala1271Val) NC_000009.12:13140078:G:A p.(Ala1271Val) NC_000009.12:13140078:G:A Identity +NM_001304418.3:c.392A>G NP_001291347.1:p.Lys131Arg NC_000003.12:69119962:T:C p.(Lys131Arg) NC_000003.12:69119962:T:C p.(Lys131Arg) NC_000003.12:69119962:T:C Identity +NM_001286957.2:c.157A>G NP_001273886.1:p.Met53Val NC_000012.12:48917084:A:G p.(Met53Val) NC_000012.12:48917084:A:G p.(Met53Val) NC_000012.12:48917084:A:G Identity +NM_000377.3:c.1487A>C NP_000368.1:p.Glu496Ala NC_000023.11:48691139:A:C p.(Glu496Ala) NC_000023.11:48691139:A:C p.(Glu496Ala) NC_000023.11:48691139:A:C Identity +NM_001157.3:c.1234C>T NP_001148.1:p.Arg412Trp NC_000010.11:80159141:G:A p.(Arg412Trp) NC_000010.11:80159141:G:A p.(Arg412Trp) NC_000010.11:80159141:G:A Identity +NM_000038.6:c.5851T>G NP_000029.2:p.Leu1951Val NC_000005.10:112841444:T:G p.(Leu1951Val) NC_000005.10:112841444:T:G p.(Leu1951Val) NC_000005.10:112841444:T:G Identity +NM_153704.6:c.148G>C NP_714915.3:p.Asp50His NC_000008.11:93755061:G:C p.(Asp50His) NC_000008.11:93755061:G:C p.(Asp50His) NC_000008.11:93755061:G:C Identity +NM_014510.3:c.8903G>T NP_055325.2:p.Gly2968Val NC_000007.14:82952049:C:A p.(Gly2968Val) NC_000007.14:82952049:C:A p.(Gly2968Val) NC_000007.14:82952049:C:A Identity +NM_012318.3:c.1741G>A NP_036450.1:p.Glu581Lys NC_000004.12:1819339:C:T p.(Glu581Lys) NC_000004.12:1819339:C:T p.(Glu581Lys) NC_000004.12:1819339:C:T Identity +NM_001127384.3:c.646C>T NP_001120856.1:p.Pro216Ser NC_000010.11:67219803:G:A p.(Pro216Ser) NC_000010.11:67219803:G:A p.(Pro216Ser) NC_000010.11:67219803:G:A Identity +NM_145290.4:c.839A>G NP_660333.2:p.Asp280Gly NC_000004.12:22442730:T:C p.(Asp280Gly) NC_000004.12:22442730:T:C p.(Asp280Gly) NC_000004.12:22442730:T:C Identity +NM_001256545.2:c.985G>A NP_001243474.1:p.Gly329Arg NC_000005.10:127410455:G:A p.(Gly329Arg) NC_000005.10:127410455:G:A p.(Gly329Arg) NC_000005.10:127410455:G:A Identity +NM_001378923.1:c.2302A>G NP_001365852.1:p.Met768Val NC_000009.12:35806153:A:G p.(Met768Val) NC_000009.12:35806153:A:G p.(Met768Val) NC_000009.12:35806153:A:G Identity +NM_001256850.1:c.10920dup NP_001243779.1:p.Glu3641Ter NC_000002.12:178741361:AAA:AAAA p.(Glu3641Ter) NC_000002.12:178741361:AAA:AAAA p.(Glu3641Ter) ERR:SPDI Identity +NM_000143.4:c.915T>G NP_000134.2:p.Phe305Leu NC_000001.11:241504234:A:C p.(Phe305Leu) NC_000001.11:241504234:A:C p.(Phe305Leu) NC_000001.11:241504234:A:C Identity +NM_014510.3:c.8771T>C NP_055325.2:p.Ile2924Thr NC_000007.14:82952181:A:G p.(Ile2924Thr) NC_000007.14:82952181:A:G p.(Ile2924Thr) NC_000007.14:82952181:A:G Identity +NM_001351527.2:c.7427C>A NP_001338456.1:p.Pro2476His NC_000009.12:132264845:G:T p.(Pro2476His) NC_000009.12:132264845:G:T p.(Pro2476His) NC_000009.12:132264845:G:T Identity +NM_005431.2:c.605C>T NP_005422.1:p.Ala202Val NC_000007.14:152648879:G:A p.(Ala202Val) NC_000007.14:152648879:G:A p.(Ala202Val) NC_000007.14:152648879:G:A Identity +NM_000465.4:c.209T>G NP_000456.2:p.Phe70Cys NC_000002.12:214797066:A:C p.(Phe70Cys) NC_000002.12:214797066:A:C p.(Phe70Cys) NC_000002.12:214797066:A:C Identity +NM_001378454.1:c.710A>G NP_001365383.1:p.Glu237Gly NC_000002.12:73422919:A:G p.(Glu237Gly) NC_000002.12:73422919:A:G p.(Glu237Gly) NC_000002.12:73422919:A:G Identity +NM_001166133.2:c.805C>T NP_001159605.1:p.Arg269Trp NC_000004.12:78267255:C:T p.(Arg269Trp) NC_000004.12:78267255:C:T p.(Arg269Trp) NC_000004.12:78267255:C:T Identity +NM_005876.5:c.6697C>A NP_005867.3:p.Gln2233Lys NC_000002.12:219484159:C:A p.(Gln2233Lys) NC_000002.12:219484159:C:A p.(Gln2233Lys) NC_000002.12:219484159:C:A Identity +NM_020778.5:c.4057G>A NP_065829.4:p.Gly1353Ser NC_000015.10:84859866:G:A p.(Gly1353Ser) NC_000015.10:84859866:G:A p.(Gly1353Ser) NC_000015.10:84859866:G:A Identity +NM_005188.4:c.2404T>A NP_005179.2:p.Trp802Arg NC_000011.10:119298509:T:A p.(Trp802Arg) NC_000011.10:119298509:T:A p.(Trp802Arg) NC_000011.10:119298509:T:A Identity +NM_001166136.2:c.1187C>T NP_001159608.1:p.Ala396Val NC_000004.12:5640556:G:A p.(Ala396Val) NC_000004.12:5640556:G:A p.(Ala396Val) NC_000004.12:5640556:G:A Identity +NM_000321.3:c.2315C>T NP_000312.2:p.Ala772Val NC_000013.11:48465100:C:T p.(Ala772Val) NC_000013.11:48465100:C:T p.(Ala772Val) NC_000013.11:48465100:C:T Identity +NM_001378442.1:c.1996G>C NP_001365371.1:p.Gly666Arg NC_000002.12:230170748:C:G p.(Gly666Arg) NC_000002.12:230170748:C:G p.(Gly666Arg) NC_000002.12:230170748:C:G Identity +NM_001330504.2:c.97G>A NP_001317433.1:p.Val33Met NC_000016.10:5075426:G:A p.(Val33Met) NC_000016.10:5075426:G:A p.(Val33Met) NC_000016.10:5075426:G:A Identity +NM_004523.4:c.2395A>G NP_004514.2:p.Lys799Glu NC_000010.11:92645489:A:G p.(Lys799Glu) NC_000010.11:92645489:A:G p.(Lys799Glu) NC_000010.11:92645489:A:G Identity +NM_001289000.2:c.1160C>T NP_001275929.1:p.Pro387Leu NC_000022.11:37084330:G:A p.(Pro387Leu) NC_000022.11:37084330:G:A p.(Pro387Leu) NC_000022.11:37084330:G:A Identity +NM_000557.5:c.203G>A NP_000548.2:p.Gly68Glu NC_000020.11:35437725:C:T p.(Gly68Glu) NC_000020.11:35437725:C:T p.(Gly68Glu) NC_000020.11:35437725:C:T Identity +NM_032043.3:c.572A>G NP_114432.2:p.Lys191Arg NC_000017.11:61847155:T:C p.(Lys191Arg) NC_000017.11:61847155:T:C p.(Lys191Arg) NC_000017.11:61847155:T:C Identity +NM_004562.3:c.988G>T NP_004553.2:p.Val330Leu NC_000006.12:161548948:C:A p.(Val330Leu) NC_000006.12:161548948:C:A p.(Val330Leu) NC_000006.12:161548948:C:A Identity +NM_016941.4:c.1189G>A NP_058637.1:p.Gly397Ser NC_000019.10:39507133:G:A p.(Gly397Ser) NC_000019.10:39507133:G:A p.(Gly397Ser) NC_000019.10:39507133:G:A Identity +NM_017947.4:c.1232C>T NP_060417.4:p.Ala411Val NC_000018.10:36213378:C:T p.(Ala411Val) NC_000018.10:36213378:C:T p.(Ala411Val) NC_000018.10:36213378:C:T Identity +NM_000532.5:c.202G>A NP_000523.2:p.Glu68Lys NC_000003.12:136255873:G:A p.(Glu68Lys) NC_000003.12:136255873:G:A p.(Glu68Lys) NC_000003.12:136255873:G:A Identity +NM_025014.2:c.214C>T NP_079290.1:p.Pro72Ser NC_000017.11:8312252:C:T p.(Pro72Ser) NC_000017.11:8312252:C:T p.(Pro72Ser) NC_000017.11:8312252:C:T Identity +NM_001347721.2:c.2141C>A NP_001334650.1:p.Ser714Tyr NC_000021.9:37512406:C:A p.(Ser714Tyr) NC_000021.9:37512406:C:A p.(Ser714Tyr) NC_000021.9:37512406:C:A Identity +NM_002240.5:c.1142T>C NP_002231.1:p.Leu381Pro NC_000021.9:37625288:A:G p.(Leu381Pro) NC_000021.9:37625288:A:G p.(Leu381Pro) NC_000021.9:37625288:A:G Identity +NM_000138.5:c.4130A>T NP_000129.3:p.His1377Leu NC_000015.10:48474334:T:A p.(His1377Leu) NC_000015.10:48474334:T:A p.(His1377Leu) NC_000015.10:48474334:T:A Identity +NM_001172574.2:c.484T>C NP_001166045.2:p.Tyr162His NC_000008.11:6438999:T:C p.(Tyr162His) NC_000008.11:6438999:T:C p.(Tyr162His) NC_000008.11:6438999:T:C Identity +NM_001572.5:c.620C>G NP_001563.2:p.Pro207Arg NC_000011.10:614232:G:C p.(Pro207Arg) NC_000011.10:614232:G:C p.(Pro207Arg) NC_000011.10:614232:G:C Identity +NM_001081640.2:c.4838A>G NP_001075109.1:p.His1613Arg NC_000008.11:47882035:T:C p.(His1613Arg) NC_000008.11:47882035:T:C p.(His1613Arg) NC_000008.11:47882035:T:C Identity +NM_000489.6:c.3433A>C NP_000480.3:p.Asn1145His NC_000023.11:77681822:T:G p.(Asn1145His) NC_000023.11:77681822:T:G p.(Asn1145His) NC_000023.11:77681822:T:G Identity +NM_001128148.3:c.1529T>C NP_001121620.1:p.Met510Thr NC_000003.12:196060186:A:G p.(Met510Thr) NC_000003.12:196060186:A:G p.(Met510Thr) NC_000003.12:196060186:A:G Identity +NM_001353229.2:c.1099C>T NP_001340158.1:p.Leu367Phe NC_000017.11:17219035:G:A p.(Leu367Phe) NC_000017.11:17219035:G:A p.(Leu367Phe) NC_000017.11:17219035:G:A Identity +NM_001378454.1:c.8025G>C NP_001365383.1:p.Lys2675Asn NC_000002.12:73489983:G:C p.(Lys2675Asn) NC_000002.12:73489983:G:C p.(Lys2675Asn) NC_000002.12:73489983:G:C Identity +NM_000426.4:c.1255A>G NP_000417.3:p.Ile419Val NC_000006.12:129165623:A:G p.(Ile419Val) NC_000006.12:129165623:A:G p.(Ile419Val) NC_000006.12:129165623:A:G Identity +NM_020778.5:c.19C>A NP_065829.4:p.Pro7Thr NC_000015.10:84817470:C:A p.(Pro7Thr) NC_000015.10:84817470:C:A p.(Pro7Thr) NC_000015.10:84817470:C:A Identity +NM_001318245.2:c.1115G>T NP_001305174.1:p.Gly372Val NC_000022.11:25769030:G:T p.(Gly372Val) NC_000022.11:25769030:G:T p.(Gly372Val) NC_000022.11:25769030:G:T Identity +NM_183075.3:c.95C>T NP_898898.1:p.Pro32Leu NC_000004.12:107931737:C:T p.(Pro32Leu) NC_000004.12:107931737:C:T p.(Pro32Leu) NC_000004.12:107931737:C:T Identity +NM_001018113.3:c.972A>T NP_001018123.1:p.Lys324Asn NC_000023.11:14859313:T:A p.(Lys324Asn) NC_000023.11:14859313:T:A p.(Lys324Asn) NC_000023.11:14859313:T:A Identity +NM_003801.4:c.1739T>A NP_003792.1:p.Leu580His NC_000008.11:144085997:T:A p.(Leu580His) NC_000008.11:144085997:T:A p.(Leu580His) NC_000008.11:144085997:T:A Identity +NM_000720.4:c.6202C>T NP_000711.1:p.Arg2068Trp NC_000003.12:53810247:C:T p.(Arg2068Trp) NC_000003.12:53810247:C:T p.(Arg2068Trp) NC_000003.12:53810247:C:T Identity +NM_016653.3:c.2320C>T NP_057737.2:p.Arg774Trp NC_000002.12:173266666:C:T p.(Arg774Trp) NC_000002.12:173266666:C:T p.(Arg774Trp) NC_000002.12:173266666:C:T Identity +NM_001100.4:c.1044_1060del NP_001091.1:p.Ala349fs NC_000001.11:229431572:AGGTGGACAGCGAGGCCAGG:AGG p.(Ala349ProfsTer46) NC_000001.11:229431572:AGGTGGACAGCGAGGCCAGG:AGG p.(Ala349ProfsTer46) NC_000001.11:229431572:AGGTGGACAGCGAGGCC: Analogous +NM_001306142.2:c.165G>C NP_001293071.1:p.Glu55Asp NC_000004.12:8871449:C:G p.(Glu55Asp) NC_000004.12:8871449:C:G p.(Glu55Asp) NC_000004.12:8871449:C:G Identity +NM_001164665.2:c.5765A>G NP_001158137.1:p.His1922Arg NC_000007.14:138837993:T:C p.(His1922Arg) NC_000007.14:138837993:T:C p.(His1922Arg) NC_000007.14:138837993:T:C Identity +NM_000318.3:c.320C>T NP_000309.2:p.Ala107Val NC_000008.11:76983858:G:A p.(Ala107Val) NC_000008.11:76983858:G:A p.(Ala107Val) NC_000008.11:76983858:G:A Identity +NM_001242581.2:c.1842G>C NP_001229510.1:p.Lys614Asn NC_000020.11:19975719:G:C p.(Lys614Asn) NC_000020.11:19975719:G:C p.(Lys614Asn) NC_000020.11:19975719:G:C Identity +NM_001281428.2:c.394T>C NP_001268357.1:p.Tyr132His NC_000009.12:34490004:T:C p.(Tyr132His) NC_000009.12:34490004:T:C p.(Tyr132His) NC_000009.12:34490004:T:C Identity +NM_001330504.2:c.44A>T NP_001317433.1:p.Tyr15Phe NC_000016.10:5073242:A:T p.(Tyr15Phe) NC_000016.10:5073242:A:T p.(Tyr15Phe) NC_000016.10:5073242:A:T Identity +NM_006393.3:c.2024G>A NP_006384.1:p.Arg675Lys NC_000010.11:20819454:C:T p.(Arg675Lys) NC_000010.11:20819454:C:T p.(Arg675Lys) NC_000010.11:20819454:C:T Identity +NM_000051.4:c.709A>T NP_000042.3:p.Thr237Ser NC_000011.10:108244833:A:T p.(Thr237Ser) NC_000011.10:108244833:A:T p.(Thr237Ser) NC_000011.10:108244833:A:T Identity +NM_001371986.1:c.6977A>G NP_001358915.1:p.Gln2326Arg NC_000002.12:209943440:A:G p.(Gln2326Arg) NC_000002.12:209943440:A:G p.(Gln2326Arg) NC_000002.12:209943440:A:G Identity +NM_001318369.2:c.1613A>C NP_001305298.1:p.Asn538Thr NC_000011.10:20654788:A:C p.(Asn538Thr) NC_000011.10:20654788:A:C p.(Asn538Thr) NC_000011.10:20654788:A:C Identity +NM_001303245.3:c.907A>G NP_001290174.1:p.Thr303Ala NC_000003.12:141570954:A:G p.(Thr303Ala) NC_000003.12:141570954:A:G p.(Thr303Ala) NC_000003.12:141570954:A:G Identity +NM_001291285.3:c.3133G>A NP_001278214.1:p.Gly1045Ser NC_000004.12:125319543:G:A p.(Gly1045Ser) NC_000004.12:125319543:G:A p.(Gly1045Ser) NC_000004.12:125319543:G:A Identity +NM_000186.4:c.1646G>C NP_000177.2:p.Gly549Ala NC_000001.11:196715718:G:C p.(Gly549Ala) NC_000001.11:196715718:G:C p.(Gly549Ala) NC_000001.11:196715718:G:C Identity +NM_001081640.2:c.11863C>T NP_001075109.1:p.His3955Tyr NC_000008.11:47777771:G:A p.(His3955Tyr) NC_000008.11:47777771:G:A p.(His3955Tyr) NC_000008.11:47777771:G:A Identity +NM_182493.3:c.392C>A NP_872299.2:p.Thr131Lys NC_000016.10:46747801:G:T p.(Thr131Lys) NC_000016.10:46747801:G:T p.(Thr131Lys) NC_000016.10:46747801:G:T Identity +NM_000138.5:c.5740T>G NP_000129.3:p.Cys1914Gly NC_000015.10:48446753:A:C p.(Cys1914Gly) NC_000015.10:48446753:A:C p.(Cys1914Gly) NC_000015.10:48446753:A:C Identity +NM_000053.4:c.3584C>T NP_000044.2:p.Ala1195Val NC_000013.11:51939165:G:A p.(Ala1195Val) NC_000013.11:51939165:G:A p.(Ala1195Val) NC_000013.11:51939165:G:A Identity +NM_001345868.2:c.55G>T NP_001332797.1:p.Ala19Ser NC_000004.12:44678676:G:T p.(Ala19Ser) NC_000004.12:44678676:G:T p.(Ala19Ser) NC_000004.12:44678676:G:T Identity +NM_000536.4:c.13A>T NP_000527.2:p.Met5Leu NC_000011.10:36594155:T:A p.(Met5Leu) NC_000011.10:36594155:T:A p.(Met5Leu) NC_000011.10:36594155:T:A Identity +NM_001145873.1:c.278G>A NP_001139345.1:p.Arg93Lys NC_000002.12:86790452:C:T p.(Arg93Lys) NC_000002.12:86790452:C:T p.(Arg93Lys) NC_000002.12:86790452:C:T Identity +NM_001304418.3:c.695C>T NP_001291347.1:p.Thr232Ile NC_000003.12:69119659:G:A p.(Thr232Ile) NC_000003.12:69119659:G:A p.(Thr232Ile) NC_000003.12:69119659:G:A Identity +NM_031935.3:c.14718A>C NP_114141.2:p.Arg4906Ser NC_000001.11:186151308:A:C p.(Arg4906Ser) NC_000001.11:186151308:A:C p.(Arg4906Ser) NC_000001.11:186151308:A:C Identity +NM_001301012.2:c.821C>T NP_001287941.1:p.Thr274Ile NC_000006.12:133481474:C:T p.(Thr274Ile) NC_000006.12:133481474:C:T p.(Thr274Ile) NC_000006.12:133481474:C:T Identity +NM_033087.4:c.76G>A NP_149078.1:p.Val26Met NC_000009.12:99221818:C:T p.(Val26Met) NC_000009.12:99221818:C:T p.(Val26Met) NC_000009.12:99221818:C:T Identity +NM_001195263.2:c.2147C>T NP_001182192.1:p.Pro716Leu NC_000010.11:101010741:G:A p.(Pro716Leu) NC_000010.11:101010741:G:A p.(Pro716Leu) NC_000010.11:101010741:G:A Identity +NM_001165966.2:c.2662C>T NP_001159438.1:p.Arg888Cys NC_000017.11:6455492:G:A p.(Arg888Cys) NC_000017.11:6455492:G:A p.(Arg888Cys) NC_000017.11:6455492:G:A Identity +LRG_427t1:c.12266A>T LRG_427p1:p.Tyr4089Phe NC_000006.12:152339325:T:A ERR:Data provider error: ValueError: Transcript LRG_427t1 not found ERR:Data provider error: ValueError: Transcript LRG_427t1 not found ERR:AlignmentMapper(tx_ac=LRG_427t1, alt_ac=LRG_427t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_427t1, alt_ac=LRG_427t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_427t1 not found +NM_001042749.2:c.1745C>G NP_001036214.1:p.Ala582Gly NC_000023.11:124063128:C:G p.(Ala582Gly) NC_000023.11:124063128:C:G p.(Ala582Gly) NC_000023.11:124063128:C:G Identity +NM_001256789.3:c.4802G>C NP_001243718.1:p.Ser1601Thr NC_000023.11:49209647:C:G p.(Ser1601Thr) NC_000023.11:49209647:C:G p.(Ser1601Thr) NC_000023.11:49209647:C:G Identity +NM_001365999.1:c.348C>G NP_001352928.1:p.Ile116Met NC_000001.11:43404399:C:G p.(Ile116Met) NC_000001.11:43404399:C:G p.(Ile116Met) NC_000001.11:43404399:C:G Identity +NM_000214.3:c.307G>A NP_000205.1:p.Gly103Arg NC_000020.11:10672780:C:T p.(Gly103Arg) NC_000020.11:10672780:C:T p.(Gly103Arg) NC_000020.11:10672780:C:T Identity +NM_001350248.2:c.427C>G NP_001337177.1:p.Leu143Val NC_000001.11:243286277:C:G p.(Leu143Val) NC_000001.11:243286277:C:G p.(Leu143Val) NC_000001.11:243286277:C:G Identity +NM_001365951.3:c.4600C>T NP_001352880.1:p.Leu1534Phe NC_000001.11:10365495:C:T p.(Leu1534Phe) NC_000001.11:10365495:C:T p.(Leu1534Phe) NC_000001.11:10365495:C:T Identity +NM_001378454.1:c.1971G>T NP_001365383.1:p.Gln657His NC_000002.12:73448497:G:T p.(Gln657His) NC_000002.12:73448497:G:T p.(Gln657His) NC_000002.12:73448497:G:T Identity +NM_006290.4:c.1490G>A NP_006281.1:p.Arg497His NC_000006.12:137878934:G:A p.(Arg497His) NC_000006.12:137878934:G:A p.(Arg497His) NC_000006.12:137878934:G:A Identity +NM_014003.4:c.2234T>C NP_054722.2:p.Ile745Thr NC_000016.10:72105108:T:C p.(Ile745Thr) NC_000016.10:72105108:T:C p.(Ile745Thr) NC_000016.10:72105108:T:C Identity +NM_001354663.2:c.1694C>G NP_001341592.1:p.Pro565Arg NC_000003.12:193657128:C:G p.(Pro565Arg) NC_000003.12:193657128:C:G p.(Pro565Arg) NC_000003.12:193657128:C:G Identity +NM_172364.5:c.514A>T NP_758952.4:p.Asn172Tyr NC_000012.12:1908009:T:A p.(Asn172Tyr) NC_000012.12:1908009:T:A p.(Asn172Tyr) NC_000012.12:1908009:T:A Identity +NM_000068.4:c.6583G>A NP_000059.3:p.Asp2195Asn NC_000019.10:13208970:C:T p.(Asp2195Asn) NC_000019.10:13208970:C:T p.(Asp2195Asn) NC_000019.10:13208970:C:T Identity +NM_020999.4:c.101C>A NP_066279.2:p.Ser34Tyr NC_000010.11:69572942:G:T p.(Ser34Tyr) NC_000010.11:69572942:G:T p.(Ser34Tyr) NC_000010.11:69572942:G:T Identity +NM_005262.3:c.429G>T NP_005253.3:p.Glu143Asp NC_000016.10:1984916:G:T p.(Glu143Asp) NC_000016.10:1984916:G:T p.(Glu143Asp) NC_000016.10:1984916:G:T Identity +NM_001127510.3:c.6554G>C NP_001120982.1:p.Ser2185Thr NC_000005.10:112842147:G:C p.(Ser2185Thr) NC_000005.10:112842147:G:C p.(Ser2185Thr) NC_000005.10:112842147:G:C Identity +NM_001365536.1:c.2530_2531delinsCG NP_001352465.1:p.Lys844Arg NC_000002.12:166277325:TT:CG p.(Lys844Arg) NC_000002.12:166277325:TT:CG p.(Lys844Arg) NC_000002.12:166277325:TT:CG Identity +NM_001165963.4:c.4724G>C NP_001159435.1:p.Arg1575Pro NC_000002.12:165994273:C:G p.(Arg1575Pro) NC_000002.12:165994273:C:G p.(Arg1575Pro) NC_000002.12:165994273:C:G Identity +NM_001289395.2:c.223G>A NP_001276324.1:p.Glu75Lys NC_000006.12:35510977:C:T p.(Glu75Lys) NC_000006.12:35510977:C:T p.(Glu75Lys) NC_000006.12:35510977:C:T Identity +NM_020461.4:c.3086T>C NP_065194.3:p.Val1029Ala NC_000022.11:50221272:A:G p.(Val1029Ala) NC_000022.11:50221272:A:G p.(Val1029Ala) NC_000022.11:50221272:A:G Identity +NM_000780.4:c.1175A>G NP_000771.2:p.Gln392Arg NC_000008.11:58492392:T:C p.(Gln392Arg) NC_000008.11:58492392:T:C p.(Gln392Arg) NC_000008.11:58492392:T:C Identity +NM_005546.4:c.1748C>T NP_005537.3:p.Ala583Val NC_000005.10:157248963:C:T p.(Ala583Val) NC_000005.10:157248963:C:T p.(Ala583Val) NC_000005.10:157248963:C:T Identity +NM_001283009.2:c.3631G>A NP_001269938.1:p.Gly1211Arg NC_000020.11:63695458:G:A p.(Gly1211Arg) NC_000020.11:63695458:G:A p.(Gly1211Arg) NC_000020.11:63695458:G:A Identity +NM_001080467.3:c.3533T>A NP_001073936.1:p.Val1178Asp NC_000018.10:49875690:A:T p.(Val1178Asp) NC_000018.10:49875690:A:T p.(Val1178Asp) NC_000018.10:49875690:A:T Identity +NM_001079.4:c.643C>G NP_001070.2:p.Gln215Glu NC_000002.12:97732961:C:G p.(Gln215Glu) NC_000002.12:97732961:C:G p.(Gln215Glu) NC_000002.12:97732961:C:G Identity +NM_001069.3:c.826C>T NP_001060.1:p.Arg276Trp NC_000006.12:3154374:G:A p.(Arg276Trp) NC_000006.12:3154374:G:A p.(Arg276Trp) NC_000006.12:3154374:G:A Identity +NM_002439.5:c.896C>G NP_002430.3:p.Ala299Gly NC_000005.10:80672346:C:G p.(Ala299Gly) NC_000005.10:80672346:C:G p.(Ala299Gly) NC_000005.10:80672346:C:G Identity +NM_001846.4:c.4514_4515inv NP_001837.2:p.Pro1505Leu NC_000013.11:110506525:CA:TG p.(Pro1505Leu) NC_000013.11:110506525:CA:TG p.(Pro1505Leu) ERR:SPDI Identity +NM_001199427.2:c.488G>C NP_001186356.1:p.Arg163Pro NC_000014.9:102876442:G:C p.(Arg163Pro) NC_000014.9:102876442:G:C p.(Arg163Pro) NC_000014.9:102876442:G:C Identity +NM_001317061.3:c.1224G>C NP_001303990.1:p.Lys408Asn NC_000006.12:3110938:G:C p.(Lys408Asn) NC_000006.12:3110938:G:C p.(Lys408Asn) NC_000006.12:3110938:G:C Identity +NM_001126105.3:c.746C>T NP_001119577.1:p.Thr249Ile NC_000014.9:22778816:G:A p.(Thr249Ile) NC_000014.9:22778816:G:A p.(Thr249Ile) NC_000014.9:22778816:G:A Identity +NM_001294332.2:c.424T>A NP_001281261.1:p.Cys142Ser NC_000005.10:225993:T:A p.(Cys142Ser) NC_000005.10:225993:T:A p.(Cys142Ser) NC_000005.10:225993:T:A Identity +NM_000158.4:c.1831A>C NP_000149.4:p.Asn611His NC_000003.12:81535297:T:G p.(Asn611His) NC_000003.12:81535297:T:G p.(Asn611His) NC_000003.12:81535297:T:G Identity +NM_000215.4:c.2134G>A NP_000206.2:p.Gly712Ser NC_000019.10:17834916:C:T p.(Gly712Ser) NC_000019.10:17834916:C:T p.(Gly712Ser) NC_000019.10:17834916:C:T Identity +NM_001291593.2:c.1408G>A NP_001278522.1:p.Ala470Thr NC_000001.11:5874970:C:T p.(Ala470Thr) NC_000001.11:5874970:C:T p.(Ala470Thr) NC_000001.11:5874970:C:T Identity +NM_145290.4:c.67G>A NP_660333.2:p.Ala23Thr NC_000004.12:22515717:C:T p.(Ala23Thr) NC_000004.12:22515717:C:T p.(Ala23Thr) NC_000004.12:22515717:C:T Identity +NM_001318245.2:c.2189G>A NP_001305174.1:p.Arg730His NC_000022.11:25780175:G:A p.(Arg730His) NC_000022.11:25780175:G:A p.(Arg730His) NC_000022.11:25780175:G:A Identity +NM_004519.4:c.326C>G NP_004510.1:p.Thr109Ser NC_000008.11:132480206:G:C p.(Thr109Ser) NC_000008.11:132480206:G:C p.(Thr109Ser) NC_000008.11:132480206:G:C Identity +NM_001177984.3:c.4261G>A NP_001171455.1:p.Val1421Ile NC_000012.12:51789382:G:A p.(Val1421Ile) NC_000012.12:51789382:G:A p.(Val1421Ile) NC_000012.12:51789382:G:A Identity +NM_000245.4:c.3545T>C NP_000236.2:p.Ile1182Thr NC_000007.14:116782009:T:C p.(Ile1182Thr) NC_000007.14:116782009:T:C p.(Ile1182Thr) NC_000007.14:116782009:T:C Identity +NM_001271667.2:c.726GGA[1] NP_001258596.1:p.Glu244del NC_000006.12:15523056:TCCTCCTC:TCCTC p.(Glu244del) NC_000006.12:15523061:C:TCC ERR:Parse ERR:Parse Identity +NM_001346754.2:c.320T>G NP_001333683.1:p.Leu107Arg NC_000017.11:36537420:T:G p.(Leu107Arg) NC_000017.11:36537420:T:G p.(Leu107Arg) NC_000017.11:36537420:T:G Identity +NM_001272034.2:c.281C>T NP_001258963.1:p.Ser94Leu NC_000019.10:7640731:C:T p.(Ser94Leu) NC_000019.10:7640731:C:T p.(Ser94Leu) NC_000019.10:7640731:C:T Identity +NM_001318219.1:c.4360G>A NP_001305148.1:p.Glu1454Lys NC_000020.11:35504624:G:A p.(Glu1454Lys) NC_000020.11:35504624:G:A p.(Glu1454Lys) NC_000020.11:35504624:G:A Identity +NM_000081.4:c.4690G>A NP_000072.2:p.Val1564Met NC_000001.11:235787371:C:T p.(Val1564Met) NC_000001.11:235787371:C:T p.(Val1564Met) NC_000001.11:235787371:C:T Identity +NM_001282424.3:c.2173G>C NP_001269353.2:p.Ala725Pro NC_000012.12:8863936:G:C p.(Ala725Pro) NC_000012.12:8863936:G:C p.(Ala725Pro) NC_000012.12:8863936:G:C Identity +NM_001024688.3:c.1643C>T NP_001019859.1:p.Ser548Leu NC_000008.11:89947848:G:A p.(Ser548Leu) NC_000008.11:89947848:G:A p.(Ser548Leu) NC_000008.11:89947848:G:A Identity +NM_001318219.1:c.47C>T NP_001305148.1:p.Ala16Val NC_000020.11:35477949:C:T p.(Ala16Val) NC_000020.11:35477949:C:T p.(Ala16Val) NC_000020.11:35477949:C:T Identity +NM_001008844.3:c.505G>A NP_001008844.1:p.Gly169Ser NC_000006.12:7559307:G:A p.(Gly169Ser) NC_000006.12:7559307:G:A p.(Gly169Ser) NC_000006.12:7559307:G:A Identity +NM_001007097.3:c.184A>C NP_001007098.1:p.Ser62Arg NC_000009.12:84670931:A:C p.(Ser62Arg) NC_000009.12:84670931:A:C p.(Ser62Arg) NC_000009.12:84670931:A:C Identity +NM_000051.4:c.4544A>G NP_000042.3:p.Asn1515Ser NC_000011.10:108292725:A:G p.(Asn1515Ser) NC_000011.10:108292725:A:G p.(Asn1515Ser) NC_000011.10:108292725:A:G Identity +NM_022114.4:c.2458C>T NP_071397.3:p.Arg820Trp NC_000001.11:3412654:C:T p.(Arg820Trp) NC_000001.11:3412654:C:T p.(Arg820Trp) NC_000001.11:3412654:C:T Identity +NM_000179.3:c.1562C>T NP_000170.1:p.Thr521Ile NC_000002.12:47799544:C:T p.(Thr521Ile) NC_000002.12:47799544:C:T p.(Thr521Ile) NC_000002.12:47799544:C:T Identity +NM_024675.4:c.1756G>T NP_078951.2:p.Asp586Tyr NC_000016.10:23630397:C:A p.(Asp586Tyr) NC_000016.10:23630397:C:A p.(Asp586Tyr) NC_000016.10:23630397:C:A Identity +NM_001005373.4:c.2026_2027del NP_001005373.1:p.Val676fs NC_000009.12:127501118:GTGTGT:GTGT p.(Val676ArgfsTer80) NC_000009.12:127501118:GTGTGT:GTGT p.(Val676ArgfsTer80) NC_000009.12:127501122:GT: Analogous +NM_001287424.2:c.423T>G NP_001274353.1:p.Phe141Leu NC_000019.10:33302096:A:C p.(Phe141Leu) NC_000019.10:33302096:A:C p.(Phe141Leu) NC_000019.10:33302096:A:C Identity +NM_002439.5:c.3296C>A NP_002430.3:p.Thr1099Lys NC_000005.10:80873280:C:A p.(Thr1099Lys) NC_000005.10:80873280:C:A p.(Thr1099Lys) NC_000005.10:80873280:C:A Identity +NM_001371986.1:c.9433A>G NP_001358915.1:p.Thr3145Ala NC_000002.12:209993350:A:G p.(Thr3145Ala) NC_000002.12:209993350:A:G p.(Thr3145Ala) NC_000002.12:209993350:A:G Identity +NM_001347701.2:c.563T>C NP_001334630.1:p.Met188Thr NC_000006.12:152155930:A:G p.(Met188Thr) NC_000006.12:152155930:A:G p.(Met188Thr) NC_000006.12:152155930:A:G Identity +NM_001346897.2:c.596G>T NP_001333826.1:p.Arg199Leu NC_000007.14:55152647:G:T p.(Arg199Leu) NC_000007.14:55152647:G:T p.(Arg199Leu) NC_000007.14:55152647:G:T Identity +NM_001172643.1:c.455G>A NP_001166114.1:p.Arg152Gln NC_000016.10:66517205:C:T p.(Arg152Gln) NC_000016.10:66517205:C:T p.(Arg152Gln) NC_000016.10:66517205:C:T Identity +NM_001317012.2:c.824_825inv NP_001303941.1:p.Gln275Pro NC_000020.11:23365206:AG:CT p.(Gln275Pro) NC_000020.11:23365206:AG:CT p.(Gln275Pro) ERR:SPDI Identity +NM_015425.6:c.2495A>G NP_056240.2:p.Asn832Ser NC_000002.12:86049022:T:C p.(Asn832Ser) NC_000002.12:86049022:T:C p.(Asn832Ser) NC_000002.12:86049022:T:C Identity +NM_001317195.3:c.59A>G NP_001304124.1:p.Gln20Arg NC_000016.10:68645648:A:G p.(Gln20Arg) NC_000016.10:68645648:A:G p.(Gln20Arg) NC_000016.10:68645648:A:G Identity +NM_001291415.2:c.1153A>G NP_001278344.1:p.Ser385Gly NC_000023.11:45059424:A:G p.(Ser385Gly) NC_000023.11:45059424:A:G p.(Ser385Gly) NC_000023.11:45059424:A:G Identity +NM_022168.4:c.1219T>C NP_071451.2:p.Cys407Arg NC_000002.12:162282452:A:G p.(Cys407Arg) NC_000002.12:162282452:A:G p.(Cys407Arg) NC_000002.12:162282452:A:G Identity +NM_004482.4:c.599C>T NP_004473.2:p.Thr200Met NC_000002.12:165764972:G:A p.(Thr200Met) NC_000002.12:165764972:G:A p.(Thr200Met) NC_000002.12:165764972:G:A Identity +NM_014028.4:c.284G>C NP_054747.2:p.Ser95Thr NC_000006.12:108074367:C:G p.(Ser95Thr) NC_000006.12:108074367:C:G p.(Ser95Thr) NC_000006.12:108074367:C:G Identity +NM_001105206.3:c.2309A>G NP_001098676.2:p.Asp770Gly NC_000006.12:112148200:T:C p.(Asp770Gly) NC_000006.12:112148200:T:C p.(Asp770Gly) NC_000006.12:112148200:T:C Identity +LRG_292t1:c.2336C>T LRG_292p1:p.Thr779Ile NC_000017.11:43093194:G:A ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_006343.3:c.413T>C NP_006334.2:p.Leu138Pro NC_000002.12:111929470:T:C p.(Leu138Pro) NC_000002.12:111929470:T:C p.(Leu138Pro) NC_000002.12:111929470:T:C Identity +NM_015164.4:c.2289C>A NP_055979.2:p.Cys763Ter NC_000001.11:15730611:C:A p.(Cys763Ter) NC_000001.11:15730611:C:A p.(Cys763Ter) NC_000001.11:15730611:C:A Identity +NM_000038.6:c.8387A>T NP_000029.2:p.Asp2796Val NC_000005.10:112843980:A:T p.(Asp2796Val) NC_000005.10:112843980:A:T p.(Asp2796Val) NC_000005.10:112843980:A:T Identity +NM_001347828.2:c.2633G>C NP_001334757.1:p.Gly878Ala NC_000004.12:54285958:G:C p.(Gly878Ala) NC_000004.12:54285958:G:C p.(Gly878Ala) NC_000004.12:54285958:G:C Identity +NM_003901.4:c.800T>C NP_003892.2:p.Val267Ala NC_000010.11:70869886:T:C p.(Val267Ala) NC_000010.11:70869886:T:C p.(Val267Ala) NC_000010.11:70869886:T:C Identity +NM_001958.5:c.725C>T NP_001949.1:p.Thr242Met NC_000020.11:63493183:G:A p.(Thr242Met) NC_000020.11:63493183:G:A p.(Thr242Met) NC_000020.11:63493183:G:A Identity +NM_031935.3:c.8777G>A NP_114141.2:p.Arg2926Gln NC_000001.11:186081383:G:A p.(Arg2926Gln) NC_000001.11:186081383:G:A p.(Arg2926Gln) NC_000001.11:186081383:G:A Identity +NM_001609.4:c.157C>T NP_001600.1:p.Pro53Ser NC_000010.11:123034469:C:T p.(Pro53Ser) NC_000010.11:123034469:C:T p.(Pro53Ser) NC_000010.11:123034469:C:T Identity +NM_001324281.3:c.2564G>A NP_001311210.1:p.Arg855Gln NC_000007.14:2918533:C:T p.(Arg855Gln) NC_000007.14:2918533:C:T p.(Arg855Gln) NC_000007.14:2918533:C:T Identity +NM_002334.4:c.2992C>T NP_002325.2:p.Arg998Cys NC_000011.10:46879137:G:A p.(Arg998Cys) NC_000011.10:46879137:G:A p.(Arg998Cys) NC_000011.10:46879137:G:A Identity +NM_025114.4:c.2315C>A NP_079390.3:p.Ser772Tyr NC_000012.12:88111253:G:T p.(Ser772Tyr) NC_000012.12:88111253:G:T p.(Ser772Tyr) NC_000012.12:88111253:G:T Identity +NM_001032221.6:c.797A>G NP_001027392.1:p.Tyr266Cys NC_000009.12:127668081:A:G p.(Tyr266Cys) NC_000009.12:127668081:A:G p.(Tyr266Cys) NC_000009.12:127668081:A:G Identity +NM_001142279.2:c.571T>A NP_001135751.1:p.Ser191Thr NC_000013.11:50945486:T:A p.(Ser191Thr) NC_000013.11:50945486:T:A p.(Ser191Thr) NC_000013.11:50945486:T:A Identity +NM_001320210.2:c.52T>G NP_001307139.1:p.Phe18Val NC_000003.12:132665995:T:G p.(Phe18Val) NC_000003.12:132665995:T:G p.(Phe18Val) NC_000003.12:132665995:T:G Identity +NM_001326358.2:c.750C>G NP_001313287.1:p.Ile250Met NC_000016.10:77359373:G:C p.(Ile250Met) NC_000016.10:77359373:G:C p.(Ile250Met) NC_000016.10:77359373:G:C Identity +NM_001029882.3:c.2914G>A NP_001025053.1:p.Gly972Ser NC_000001.11:27549201:C:T p.(Gly972Ser) NC_000001.11:27549201:C:T p.(Gly972Ser) NC_000001.11:27549201:C:T Identity +NM_001164097.2:c.4994A>T NP_001157569.1:p.Asp1665Val NC_000005.10:83540957:A:T p.(Asp1665Val) NC_000005.10:83540957:A:T p.(Asp1665Val) NC_000005.10:83540957:A:T Identity +NM_000051.4:c.647C>T NP_000042.3:p.Ala216Val NC_000011.10:108244102:C:T p.(Ala216Val) NC_000011.10:108244102:C:T p.(Ala216Val) NC_000011.10:108244102:C:T Identity +NM_001023570.4:c.1279G>A NP_001018864.2:p.Ala427Thr NC_000003.12:121781873:C:T p.(Ala427Thr) NC_000003.12:121781873:C:T p.(Ala427Thr) NC_000003.12:121781873:C:T Identity +NM_001039348.3:c.1066G>A NP_001034437.1:p.Gly356Ser NC_000002.12:55871057:C:T p.(Gly356Ser) NC_000002.12:55871057:C:T p.(Gly356Ser) NC_000002.12:55871057:C:T Identity +NM_001363711.2:c.1393C>G NP_001350640.1:p.Pro465Ala NC_000015.10:45108793:G:C p.(Pro465Ala) NC_000015.10:45108793:G:C p.(Pro465Ala) NC_000015.10:45108793:G:C Identity +NM_000179.3:c.913A>G NP_000170.1:p.Thr305Ala NC_000002.12:47798895:A:G p.(Thr305Ala) NC_000002.12:47798895:A:G p.(Thr305Ala) NC_000002.12:47798895:A:G Identity +NM_001348729.2:c.4873G>A NP_001335658.1:p.Gly1625Arg NC_000002.12:8731165:C:T p.(Gly1625Arg) NC_000002.12:8731165:C:T p.(Gly1625Arg) NC_000002.12:8731165:C:T Identity +NM_001134477.3:c.754G>A NP_001127949.1:p.Glu252Lys NC_000016.10:14586342:C:T p.(Glu252Lys) NC_000016.10:14586342:C:T p.(Glu252Lys) NC_000016.10:14586342:C:T Identity +NM_001029883.3:c.743G>C NP_001025054.1:p.Arg248Thr NC_000002.12:29073518:C:G p.(Arg248Thr) NC_000002.12:29073518:C:G p.(Arg248Thr) NC_000002.12:29073518:C:G Identity +NM_000286.3:c.43G>A NP_000277.1:p.Asp15Asn NC_000017.11:35577978:C:T p.(Asp15Asn) NC_000017.11:35577978:C:T p.(Asp15Asn) NC_000017.11:35577978:C:T Identity +NM_005188.4:c.1237G>A NP_005179.2:p.Gly413Ser NC_000011.10:119278518:G:A p.(Gly413Ser) NC_000011.10:119278518:G:A p.(Gly413Ser) NC_000011.10:119278518:G:A Identity +NM_001350626.2:c.1141C>T NP_001337555.1:p.Arg381Cys NC_000007.14:2541477:G:A p.(Arg381Cys) NC_000007.14:2541477:G:A p.(Arg381Cys) NC_000007.14:2541477:G:A Identity +NM_002497.4:c.1273C>T NP_002488.1:p.Gln425Ter NC_000001.11:211663490:G:A p.(Gln425Ter) NC_000001.11:211663490:G:A p.(Gln425Ter) NC_000001.11:211663490:G:A Identity +NM_016247.4:c.718G>A NP_057331.2:p.Glu240Lys NC_000003.12:101273690:C:T p.(Glu240Lys) NC_000003.12:101273690:C:T p.(Glu240Lys) NC_000003.12:101273690:C:T Identity +NM_000109.4:c.3143A>G NP_000100.3:p.His1048Arg NC_000023.11:32464694:T:C p.(His1048Arg) NC_000023.11:32464694:T:C p.(His1048Arg) NC_000023.11:32464694:T:C Identity +NM_000238.4:c.2419G>A NP_000229.1:p.Glu807Lys NC_000007.14:150949028:C:T p.(Glu807Lys) NC_000007.14:150949028:C:T p.(Glu807Lys) NC_000007.14:150949028:C:T Identity +NM_002439.5:c.94G>A NP_002430.3:p.Gly32Arg NC_000005.10:80654820:G:A p.(Gly32Arg) NC_000005.10:80654820:G:A p.(Gly32Arg) NC_000005.10:80654820:G:A Identity +NM_030665.4:c.2503G>A NP_109590.3:p.Asp835Asn NC_000017.11:17795450:G:A p.(Asp835Asn) NC_000017.11:17795450:G:A p.(Asp835Asn) NC_000017.11:17795450:G:A Identity +NM_001165963.4:c.3175G>T NP_001159435.1:p.Asp1059Tyr NC_000002.12:166036301:C:A p.(Asp1059Tyr) NC_000002.12:166036301:C:A p.(Asp1059Tyr) NC_000002.12:166036301:C:A Identity +NM_000283.4:c.2114G>A NP_000274.3:p.Arg705Gln NC_000004.12:664205:G:A p.(Arg705Gln) NC_000004.12:664205:G:A p.(Arg705Gln) NC_000004.12:664205:G:A Identity +NM_000179.3:c.1603T>G NP_000170.1:p.Tyr535Asp NC_000002.12:47799585:T:G p.(Tyr535Asp) NC_000002.12:47799585:T:G p.(Tyr535Asp) NC_000002.12:47799585:T:G Identity +NM_000360.4:c.1277C>T NP_000351.2:p.Thr426Met NC_000011.10:2165288:G:A p.(Thr426Met) NC_000011.10:2165288:G:A p.(Thr426Met) NC_000011.10:2165288:G:A Identity +NM_002900.3:c.1570A>G NP_002891.1:p.Met524Val NC_000010.11:47350053:A:G p.(Met524Val) NC_000010.11:47350053:A:G p.(Met524Val) NC_000010.11:47350053:A:G Identity +NM_001288781.1:c.388A>G NP_001275710.1:p.Arg130Gly NC_000014.9:88841124:A:G p.(Arg130Gly) NC_000014.9:88841124:A:G p.(Arg130Gly) NC_000014.9:88841124:A:G Identity +NM_007248.5:c.82G>T NP_009179.2:p.Ala28Ser NC_000003.12:48466766:G:T p.(Ala28Ser) NC_000003.12:48466766:G:T p.(Ala28Ser) NC_000003.12:48466766:G:T Identity +NM_004370.6:c.5857C>T NP_004361.3:p.Arg1953Cys NC_000006.12:75132019:G:A p.(Arg1953Cys) NC_000006.12:75132019:G:A p.(Arg1953Cys) NC_000006.12:75132019:G:A Identity +NM_001199397.3:c.715T>G NP_001186326.1:p.Phe239Val NC_000004.12:169585440:A:C p.(Phe239Val) NC_000004.12:169585440:A:C p.(Phe239Val) NC_000004.12:169585440:A:C Identity +NM_024408.4:c.6474C>A NP_077719.2:p.His2158Gln NC_000001.11:119916247:G:T p.(His2158Gln) NC_000001.11:119916247:G:T p.(His2158Gln) NC_000001.11:119916247:G:T Identity +NM_001283106.3:c.132C>A NP_001270035.1:p.Asn44Lys NC_000022.11:20043429:C:A p.(Asn44Lys) NC_000022.11:20043429:C:A p.(Asn44Lys) NC_000022.11:20043429:C:A Identity +NM_014510.3:c.1558T>C NP_055325.2:p.Ser520Pro NC_000007.14:83155082:A:G p.(Ser520Pro) NC_000007.14:83155082:A:G p.(Ser520Pro) NC_000007.14:83155082:A:G Identity +NM_002775.5:c.127C>T NP_002766.1:p.Pro43Ser NC_000010.11:122461778:C:T p.(Pro43Ser) NC_000010.11:122461778:C:T p.(Pro43Ser) NC_000010.11:122461778:C:T Identity +NM_001033053.3:c.1946G>T NP_001028225.1:p.Cys649Phe NC_000017.11:5558749:C:A p.(Cys649Phe) NC_000017.11:5558749:C:A p.(Cys649Phe) NC_000017.11:5558749:C:A Identity +NM_005630.3:c.1316C>T NP_005621.2:p.Pro439Leu NC_000003.12:133945239:G:A p.(Pro439Leu) NC_000003.12:133945239:G:A p.(Pro439Leu) NC_000003.12:133945239:G:A Identity +NM_000495.5:c.3730G>A NP_000486.1:p.Gly1244Ser NC_000023.11:108668443:G:A p.(Gly1244Ser) NC_000023.11:108668443:G:A p.(Gly1244Ser) NC_000023.11:108668443:G:A Identity +NM_000378.6:c.177G>C NP_000369.4:p.Gln59His NC_000011.10:32435183:C:G p.(Gln59His) NC_000011.10:32435183:C:G p.(Gln59His) NC_000011.10:32435183:C:G Identity +NM_000426.4:c.5477G>A NP_000417.3:p.Arg1826Gln NC_000006.12:129401254:G:A p.(Arg1826Gln) NC_000006.12:129401254:G:A p.(Arg1826Gln) NC_000006.12:129401254:G:A Identity +NM_001352773.2:c.487G>A NP_001339702.1:p.Ala163Thr NC_000017.11:41769188:C:T p.(Ala163Thr) NC_000017.11:41769188:C:T p.(Ala163Thr) NC_000017.11:41769188:C:T Identity +NM_001171.6:c.1649T>C NP_001162.5:p.Val550Ala NC_000016.10:16188960:A:G p.(Val550Ala) NC_000016.10:16188960:A:G p.(Val550Ala) NC_000016.10:16188960:A:G Identity +NM_001384732.1:c.5957A>T NP_001371661.1:p.Asp1986Val NC_000005.10:37175929:T:A p.(Asp1986Val) NC_000005.10:37175929:T:A p.(Asp1986Val) NC_000005.10:37175929:T:A Identity +NM_001278293.3:c.344A>G NP_001265222.1:p.His115Arg NC_000003.12:97785043:A:G p.(His115Arg) NC_000003.12:97785043:A:G p.(His115Arg) NC_000003.12:97785043:A:G Identity +NM_001184.4:c.421A>T NP_001175.2:p.Ile141Phe NC_000003.12:142562980:T:A p.(Ile141Phe) NC_000003.12:142562980:T:A p.(Ile141Phe) NC_000003.12:142562980:T:A Identity +NM_000017.4:c.778G>T NP_000008.1:p.Gly260Cys NC_000012.12:120738432:G:T p.(Gly260Cys) NC_000012.12:120738432:G:T p.(Gly260Cys) NC_000012.12:120738432:G:T Identity +NM_015681.6:c.551A>T NP_056496.1:p.Asp184Val NC_000017.11:19343382:T:A p.(Asp184Val) NC_000017.11:19343382:T:A p.(Asp184Val) NC_000017.11:19343382:T:A Identity +NM_001195610.2:c.85T>C NP_001182539.1:p.Tyr29His NC_000006.12:24357665:A:G p.(Tyr29His) NC_000006.12:24357665:A:G p.(Tyr29His) NC_000006.12:24357665:A:G Identity +NM_025009.5:c.2083G>C NP_079285.2:p.Glu695Gln NC_000004.12:55999374:G:C p.(Glu695Gln) NC_000004.12:55999374:G:C p.(Glu695Gln) NC_000004.12:55999374:G:C Identity +NM_001277115.2:c.3325T>C NP_001264044.1:p.Phe1109Leu NC_000007.14:21601078:T:C p.(Phe1109Leu) NC_000007.14:21601078:T:C p.(Phe1109Leu) NC_000007.14:21601078:T:C Identity +NM_001282625.2:c.91_92delinsAG NP_001269554.1:p.Glu31Arg NC_000001.11:156115008:GA:AG p.(Glu31Arg) NC_000001.11:156115008:GA:AG p.(Glu31Arg) NC_000001.11:156115008:GA:AG Identity +NM_016653.3:c.875A>T NP_057737.2:p.Glu292Val NC_000002.12:173217137:A:T p.(Glu292Val) NC_000002.12:173217137:A:T p.(Glu292Val) NC_000002.12:173217137:A:T Identity +NM_001193416.3:c.572T>C NP_001180345.1:p.Ile191Thr NC_000023.11:41343243:T:C p.(Ile191Thr) NC_000023.11:41343243:T:C p.(Ile191Thr) NC_000023.11:41343243:T:C Identity +NM_001711.6:c.592A>G NP_001702.1:p.Ser198Gly NC_000023.11:153506554:A:G p.(Ser198Gly) NC_000023.11:153506554:A:G p.(Ser198Gly) NC_000023.11:153506554:A:G Identity +NM_001159508.3:c.829C>T NP_001152980.2:p.His277Tyr NC_000015.10:40415440:C:T p.(His277Tyr) NC_000015.10:40415440:C:T p.(His277Tyr) NC_000015.10:40415440:C:T Identity +NM_001281492.2:c.1859C>T NP_001268421.1:p.Thr620Ile NC_000002.12:47800231:C:T p.(Thr620Ile) NC_000002.12:47800231:C:T p.(Thr620Ile) NC_000002.12:47800231:C:T Identity +NM_032119.4:c.3562A>C NP_115495.3:p.Ile1188Leu NC_000005.10:90652490:A:C p.(Ile1188Leu) NC_000005.10:90652490:A:C p.(Ile1188Leu) NC_000005.10:90652490:A:C Identity +NM_001193300.2:c.305C>T NP_001180229.1:p.Pro102Leu NC_000001.11:156158073:C:T p.(Pro102Leu) NC_000001.11:156158073:C:T p.(Pro102Leu) NC_000001.11:156158073:C:T Identity +NM_000111.3:c.601G>T NP_000102.1:p.Val201Leu NC_000007.14:107789657:C:A p.(Val201Leu) NC_000007.14:107789657:C:A p.(Val201Leu) NC_000007.14:107789657:C:A Identity +NM_001172309.2:c.1829A>C NP_001165780.1:p.Lys610Thr NC_000001.11:77942821:A:C p.(Lys610Thr) NC_000001.11:77942821:A:C p.(Lys610Thr) NC_000001.11:77942821:A:C Identity +NM_003737.4:c.3538C>G NP_003728.1:p.Leu1180Val NC_000011.10:6631752:G:C p.(Leu1180Val) NC_000011.10:6631752:G:C p.(Leu1180Val) NC_000011.10:6631752:G:C Identity +NM_001369404.1:c.393C>G NP_001356333.1:p.His131Gln NC_000011.10:19182692:G:C p.(His131Gln) NC_000011.10:19182692:G:C p.(His131Gln) NC_000011.10:19182692:G:C Identity +NM_000243.3:c.250G>C NP_000234.1:p.Glu84Gln NC_000016.10:3256337:C:G p.(Glu84Gln) NC_000016.10:3256337:C:G p.(Glu84Gln) NC_000016.10:3256337:C:G Identity +NM_000057.4:c.283G>A NP_000048.1:p.Ala95Thr NC_000015.10:90749550:G:A p.(Ala95Thr) NC_000015.10:90749550:G:A p.(Ala95Thr) NC_000015.10:90749550:G:A Identity +NM_001029883.3:c.3718T>C NP_001025054.1:p.Cys1240Arg NC_000002.12:29065017:A:G p.(Cys1240Arg) NC_000002.12:29065017:A:G p.(Cys1240Arg) NC_000002.12:29065017:A:G Identity +NM_001130144.3:c.2728G>A NP_001123616.1:p.Val910Met NC_000011.10:65541290:C:T p.(Val910Met) NC_000011.10:65541290:C:T p.(Val910Met) NC_000011.10:65541290:C:T Identity +NM_004273.5:c.634G>A NP_004264.2:p.Glu212Lys NC_000010.11:72007664:G:A p.(Glu212Lys) NC_000010.11:72007664:G:A p.(Glu212Lys) NC_000010.11:72007664:G:A Identity +NM_020184.4:c.1660G>T NP_064569.3:p.Ala554Ser NC_000002.12:96797625:G:T p.(Ala554Ser) NC_000002.12:96797625:G:T p.(Ala554Ser) NC_000002.12:96797625:G:T Identity +NM_001127178.3:c.2801A>G NP_001120650.1:p.Tyr934Cys NC_000004.12:539217:A:G p.(Tyr934Cys) NC_000004.12:539217:A:G p.(Tyr934Cys) NC_000004.12:539217:A:G Identity +NM_001145661.2:c.1292C>T NP_001139133.1:p.Ala431Val NC_000003.12:128481169:G:A p.(Ala431Val) NC_000003.12:128481169:G:A p.(Ala431Val) NC_000003.12:128481169:G:A Identity +NM_030665.4:c.1919C>G NP_109590.3:p.Pro640Arg NC_000017.11:17794866:C:G p.(Pro640Arg) NC_000017.11:17794866:C:G p.(Pro640Arg) NC_000017.11:17794866:C:G Identity +NM_001304482.2:c.4459G>C NP_001291411.1:p.Gly1487Arg NC_000003.12:47413110:G:C p.(Gly1487Arg) NC_000003.12:47413110:G:C p.(Gly1487Arg) NC_000003.12:47413110:G:C Identity +NM_000388.4:c.3215C>T NP_000379.3:p.Thr1072Ile NC_000003.12:122285168:C:T p.(Thr1072Ile) NC_000003.12:122285168:C:T p.(Thr1072Ile) NC_000003.12:122285168:C:T Identity +NM_031935.3:c.4178T>C NP_114141.2:p.Met1393Thr NC_000001.11:186001405:T:C p.(Met1393Thr) NC_000001.11:186001405:T:C p.(Met1393Thr) NC_000001.11:186001405:T:C Identity +NM_001113178.3:c.2498C>T NP_001106649.1:p.Pro833Leu NC_000016.10:69692325:C:T p.(Pro833Leu) NC_000016.10:69692325:C:T p.(Pro833Leu) NC_000016.10:69692325:C:T Identity +NM_001148.6:c.8564T>C NP_001139.3:p.Val2855Ala NC_000004.12:113357181:T:C p.(Val2855Ala) NC_000004.12:113357181:T:C p.(Val2855Ala) NC_000004.12:113357181:T:C Identity +NM_000902.5:c.38T>C NP_000893.2:p.Ile13Thr NC_000003.12:155084204:T:C p.(Ile13Thr) NC_000003.12:155084204:T:C p.(Ile13Thr) NC_000003.12:155084204:T:C Identity +NM_000286.3:c.860A>T NP_000277.1:p.His287Leu NC_000017.11:35576001:T:A p.(His287Leu) NC_000017.11:35576001:T:A p.(His287Leu) NC_000017.11:35576001:T:A Identity +NM_001252678.2:c.475A>G NP_001239607.1:p.Ile159Val NC_000015.10:72731680:A:G p.(Ile159Val) NC_000015.10:72731680:A:G p.(Ile159Val) NC_000015.10:72731680:A:G Identity +NM_006015.6:c.5794G>A NP_006006.3:p.Ala1932Thr NC_000001.11:26779691:G:A p.(Ala1932Thr) NC_000001.11:26779691:G:A p.(Ala1932Thr) NC_000001.11:26779691:G:A Identity +NM_004341.5:c.1964T>G NP_004332.2:p.Val655Gly NC_000002.12:27226251:T:G p.(Val655Gly) NC_000002.12:27226251:T:G p.(Val655Gly) NC_000002.12:27226251:T:G Identity +NM_001289395.2:c.917T>G NP_001276324.1:p.Leu306Arg NC_000006.12:35505776:A:C p.(Leu306Arg) NC_000006.12:35505776:A:C p.(Leu306Arg) NC_000006.12:35505776:A:C Identity +NM_000022.4:c.247G>A NP_000013.2:p.Ala83Thr NC_000020.11:44626570:C:T p.(Ala83Thr) NC_000020.11:44626570:C:T p.(Ala83Thr) NC_000020.11:44626570:C:T Identity +NM_001165928.4:c.2240A>T NP_001159400.3:p.Asp747Val NC_000003.12:49532750:A:T p.(Asp747Val) NC_000003.12:49532750:A:T p.(Asp747Val) NC_000003.12:49532750:A:T Identity +NM_004370.6:c.1467T>G NP_004361.3:p.His489Gln NC_000006.12:75183473:A:C p.(His489Gln) NC_000006.12:75183473:A:C p.(His489Gln) NC_000006.12:75183473:A:C Identity +NM_001365999.1:c.3556A>G NP_001352928.1:p.Thr1186Ala NC_000001.11:43427402:A:G p.(Thr1186Ala) NC_000001.11:43427402:A:G p.(Thr1186Ala) NC_000001.11:43427402:A:G Identity +NM_000548.5:c.2144A>G NP_000539.2:p.Glu715Gly NC_000016.10:2072286:A:G p.(Glu715Gly) NC_000016.10:2072286:A:G p.(Glu715Gly) NC_000016.10:2072286:A:G Identity +NM_005045.4:c.8425G>A NP_005036.2:p.Val2809Ile NC_000007.14:103503079:C:T p.(Val2809Ile) NC_000007.14:103503079:C:T p.(Val2809Ile) NC_000007.14:103503079:C:T Identity +NM_001136139.4:c.1939C>T NP_001129611.1:p.Pro647Ser NC_000019.10:1611723:G:A p.(Pro647Ser) NC_000019.10:1611723:G:A p.(Pro647Ser) NC_000019.10:1611723:G:A Identity +NM_003737.4:c.9436G>T NP_003728.1:p.Ala3146Ser NC_000011.10:6622239:C:A p.(Ala3146Ser) NC_000011.10:6622239:C:A p.(Ala3146Ser) NC_000011.10:6622239:C:A Identity +NM_000388.4:c.2143C>T NP_000379.3:p.His715Tyr NC_000003.12:122284096:C:T p.(His715Tyr) NC_000003.12:122284096:C:T p.(His715Tyr) NC_000003.12:122284096:C:T Identity +NM_007118.4:c.6568C>T NP_009049.2:p.Leu2190Phe NC_000005.10:14482683:C:T p.(Leu2190Phe) NC_000005.10:14482683:C:T p.(Leu2190Phe) NC_000005.10:14482683:C:T Identity +NM_001253815.2:c.1325C>A NP_001240744.1:p.Pro442His NC_000008.11:144361001:C:A p.(Pro442His) NC_000008.11:144361001:C:A p.(Pro442His) NC_000008.11:144361001:C:A Identity +NM_000275.3:c.1528G>A NP_000266.2:p.Ala510Thr NC_000015.10:27966797:C:T p.(Ala510Thr) NC_000015.10:27966797:C:T p.(Ala510Thr) NC_000015.10:27966797:C:T Identity +NM_001129.5:c.853G>A NP_001120.3:p.Glu285Lys NC_000007.14:44107921:G:A p.(Glu285Lys) NC_000007.14:44107921:G:A p.(Glu285Lys) NC_000007.14:44107921:G:A Identity +NM_001242366.3:c.340C>G NP_001229295.1:p.Arg114Gly NC_000017.11:28405356:G:C p.(Arg114Gly) NC_000017.11:28405356:G:C p.(Arg114Gly) NC_000017.11:28405356:G:C Identity +NM_000285.4:c.330G>C NP_000276.2:p.Lys110Asn NC_000019.10:33501000:C:G p.(Lys110Asn) NC_000019.10:33501000:C:G p.(Lys110Asn) NC_000019.10:33501000:C:G Identity +NM_004482.4:c.716A>C NP_004473.2:p.Tyr239Ser NC_000002.12:165762026:T:G p.(Tyr239Ser) NC_000002.12:165762026:T:G p.(Tyr239Ser) NC_000002.12:165762026:T:G Identity +NM_000929.3:c.110C>G NP_000920.1:p.Ala37Gly NC_000001.11:20086151:C:G p.(Ala37Gly) NC_000001.11:20086151:C:G p.(Ala37Gly) NC_000001.11:20086151:C:G Identity +NM_001407846.1:c.3623C>T NP_001394775.1:p.Thr1208Ile NC_000017.11:43091763:G:A p.(Thr1208Ile) NC_000017.11:43091763:G:A p.(Thr1208Ile) NC_000017.11:43091763:G:A Identity +NM_000081.4:c.2170A>G NP_000072.2:p.Ile724Val NC_000001.11:235808647:T:C p.(Ile724Val) NC_000001.11:235808647:T:C p.(Ile724Val) NC_000001.11:235808647:T:C Identity +NM_032119.4:c.1445C>T NP_115495.3:p.Ala482Val NC_000005.10:90628767:C:T p.(Ala482Val) NC_000005.10:90628767:C:T p.(Ala482Val) NC_000005.10:90628767:C:T Identity +NM_001130144.3:c.712G>C NP_001123616.1:p.Ala238Pro NC_000011.10:65553852:C:G p.(Ala238Pro) NC_000011.10:65553852:C:G p.(Ala238Pro) NC_000011.10:65553852:C:G Identity +NM_004304.5:c.2924G>T NP_004295.2:p.Gly975Val NC_000002.12:29227064:C:A p.(Gly975Val) NC_000002.12:29227064:C:A p.(Gly975Val) NC_000002.12:29227064:C:A Identity +NM_001271667.2:c.40G>A NP_001258596.1:p.Val14Met NC_000006.12:15627414:C:T p.(Val14Met) NC_000006.12:15627414:C:T p.(Val14Met) NC_000006.12:15627414:C:T Identity +NM_032228.6:c.478C>T NP_115604.1:p.Arg160Cys NC_000011.10:13708011:C:T p.(Arg160Cys) NC_000011.10:13708011:C:T p.(Arg160Cys) NC_000011.10:13708011:C:T Identity +NM_145290.4:c.1852T>G NP_660333.2:p.Phe618Val NC_000004.12:22413771:A:C p.(Phe618Val) NC_000004.12:22413771:A:C p.(Phe618Val) NC_000004.12:22413771:A:C Identity +NM_001042410.2:c.2174C>G NP_001035869.1:p.Ser725Cys NC_000002.12:219236437:C:G p.(Ser725Cys) NC_000002.12:219236437:C:G p.(Ser725Cys) NC_000002.12:219236437:C:G Identity +NM_000257.4:c.2605CGC[1] NP_000248.2:p.Arg870del NC_000014.9:23424837:GCGGCG:GCG p.(Arg870del) NC_000014.9:23424842:G:GCG ERR:Parse ERR:Parse Identity +NM_001256213.2:c.1987G>C NP_001243142.1:p.Ala663Pro NC_000019.10:41976555:C:G p.(Ala663Pro) NC_000019.10:41976555:C:G p.(Ala663Pro) NC_000019.10:41976555:C:G Identity +NM_001384158.1:c.957C>G NP_001371087.1:p.Ile319Met NC_000014.9:91882981:G:C p.(Ile319Met) NC_000014.9:91882981:G:C p.(Ile319Met) NC_000014.9:91882981:G:C Identity +NM_015346.4:c.6985A>T NP_056161.2:p.Arg2329Trp NC_000014.9:67755051:T:A p.(Arg2329Trp) NC_000014.9:67755051:T:A p.(Arg2329Trp) NC_000014.9:67755051:T:A Identity +NM_001135999.2:c.2477G>A NP_001129471.2:p.Arg826Gln NC_000009.12:35555521:G:A p.(Arg826Gln) NC_000009.12:35555521:G:A p.(Arg826Gln) NC_000009.12:35555521:G:A Identity +NM_001142301.1:c.683T>G NP_001135773.1:p.Val228Gly NC_000008.11:93780929:T:G p.(Val228Gly) NC_000008.11:93780929:T:G p.(Val228Gly) NC_000008.11:93780929:T:G Identity +NM_001130066.2:c.2393C>A NP_001123538.1:p.Pro798His NC_000006.12:33442986:C:A p.(Pro798His) NC_000006.12:33442986:C:A p.(Pro798His) NC_000006.12:33442986:C:A Identity +NM_001164674.2:c.425C>T NP_001158146.1:p.Ser142Leu NC_000003.12:4452894:G:A p.(Ser142Leu) NC_000003.12:4452894:G:A p.(Ser142Leu) NC_000003.12:4452894:G:A Identity +NM_000245.4:c.3717C>A NP_000236.2:p.Asn1239Lys NC_000007.14:116783387:C:A p.(Asn1239Lys) NC_000007.14:116783387:C:A p.(Asn1239Lys) NC_000007.14:116783387:C:A Identity +NM_001099952.4:c.1033C>T NP_001093422.2:p.Arg345Trp NC_000003.12:4658159:C:T p.(Arg345Trp) NC_000003.12:4658159:C:T p.(Arg345Trp) NC_000003.12:4658159:C:T Identity +NM_014495.4:c.766A>G NP_055310.1:p.Thr256Ala NC_000001.11:62601812:A:G p.(Thr256Ala) NC_000001.11:62601812:A:G p.(Thr256Ala) NC_000001.11:62601812:A:G Identity +NM_001160147.2:c.1682G>A NP_001153619.1:p.Arg561Gln NC_000014.9:53063047:C:T p.(Arg561Gln) NC_000014.9:53063047:C:T p.(Arg561Gln) NC_000014.9:53063047:C:T Identity +NM_001085411.3:c.343C>A NP_001078880.1:p.His115Asn NC_000005.10:36227522:G:T p.(His115Asn) NC_000005.10:36227522:G:T p.(His115Asn) NC_000005.10:36227522:G:T Identity +NM_005502.4:c.2904G>A NP_005493.2:p.Met968Ile NC_000009.12:104821430:C:T p.(Met968Ile) NC_000009.12:104821430:C:T p.(Met968Ile) NC_000009.12:104821430:C:T Identity +NM_000843.4:c.875C>T NP_000834.2:p.Ala292Val NC_000005.10:178990728:G:A p.(Ala292Val) NC_000005.10:178990728:G:A p.(Ala292Val) NC_000005.10:178990728:G:A Identity +NM_021942.6:c.503C>T NP_068761.4:p.Ser168Leu NC_000004.12:183668059:C:T p.(Ser168Leu) NC_000004.12:183668059:C:T p.(Ser168Leu) NC_000004.12:183668059:C:T Identity +NM_001193307.2:c.2380G>A NP_001180236.1:p.Val794Ile NC_000007.14:93103717:C:T p.(Val794Ile) NC_000007.14:93103717:C:T p.(Val794Ile) NC_000007.14:93103717:C:T Identity +NM_006929.5:c.2248A>G NP_008860.4:p.Met750Val NC_000006.12:31966753:A:G p.(Met750Val) NC_000006.12:31966753:A:G p.(Met750Val) NC_000006.12:31966753:A:G Identity +NM_001330454.2:c.809A>C NP_001317383.1:p.Glu270Ala NC_000016.10:3523252:A:C p.(Glu270Ala) NC_000016.10:3523252:A:C p.(Glu270Ala) NC_000016.10:3523252:A:C Identity +NM_001135999.2:c.919A>G NP_001129471.2:p.Ser307Gly NC_000009.12:35547439:A:G p.(Ser307Gly) NC_000009.12:35547439:A:G p.(Ser307Gly) NC_000009.12:35547439:A:G Identity +NM_000724.4:c.227A>G NP_000715.2:p.Asp76Gly NC_000010.11:18498412:A:G p.(Asp76Gly) NC_000010.11:18498412:A:G p.(Asp76Gly) NC_000010.11:18498412:A:G Identity +NM_016213.5:c.49A>G NP_057297.2:p.Thr17Ala NC_000015.10:64387911:A:G p.(Thr17Ala) NC_000015.10:64387911:A:G p.(Thr17Ala) NC_000015.10:64387911:A:G Identity +NM_000051.4:c.3527T>C NP_000042.3:p.Leu1176Pro NC_000011.10:108281118:T:C p.(Leu1176Pro) NC_000011.10:108281118:T:C p.(Leu1176Pro) NC_000011.10:108281118:T:C Identity +NM_000068.4:c.4156G>T NP_000059.3:p.Val1386Phe NC_000019.10:13261555:C:A p.(Val1386Phe) NC_000019.10:13261555:C:A p.(Val1386Phe) NC_000019.10:13261555:C:A Identity +NM_139318.5:c.229A>G NP_647479.2:p.Thr77Ala NC_000014.9:63006440:T:C p.(Thr77Ala) NC_000014.9:63006440:T:C p.(Thr77Ala) NC_000014.9:63006440:T:C Identity +NM_000629.3:c.817C>A NP_000620.2:p.His273Asn NC_000021.9:33349118:C:A p.(His273Asn) NC_000021.9:33349118:C:A p.(His273Asn) NC_000021.9:33349118:C:A Identity +NM_004946.3:c.223A>G NP_004937.1:p.Arg75Gly NC_000005.10:169670595:A:G p.(Arg75Gly) NC_000005.10:169670595:A:G p.(Arg75Gly) NC_000005.10:169670595:A:G Identity +NM_001256267.2:c.614G>A NP_001243196.1:p.Arg205Lys NC_000010.11:68122051:G:A p.(Arg205Lys) NC_000010.11:68122051:G:A p.(Arg205Lys) NC_000010.11:68122051:G:A Identity +NM_000186.4:c.1998G>T NP_000177.2:p.Lys666Asn NC_000001.11:196726593:G:T p.(Lys666Asn) NC_000001.11:196726593:G:T p.(Lys666Asn) NC_000001.11:196726593:G:T Identity +NM_001379200.1:c.1286C>T NP_001366129.1:p.Ala429Val NC_000022.11:19766637:C:T p.(Ala429Val) NC_000022.11:19766637:C:T p.(Ala429Val) NC_000022.11:19766637:C:T Identity +NM_007186.6:c.830A>G NP_009117.2:p.Glu277Gly NC_000020.11:35467533:A:G p.(Glu277Gly) NC_000020.11:35467533:A:G p.(Glu277Gly) NC_000020.11:35467533:A:G Identity +NM_000521.4:c.872C>T NP_000512.2:p.Thr291Ile NC_000005.10:74713605:C:T p.(Thr291Ile) NC_000005.10:74713605:C:T p.(Thr291Ile) NC_000005.10:74713605:C:T Identity +NM_000424.4:c.557T>G NP_000415.2:p.Val186Gly NC_000012.12:52519158:A:C p.(Val186Gly) NC_000012.12:52519158:A:C p.(Val186Gly) NC_000012.12:52519158:A:C Identity +NM_198075.4:c.1244G>A NP_932341.1:p.Arg415Gln NC_000011.10:552630:G:A p.(Arg415Gln) NC_000011.10:552630:G:A p.(Arg415Gln) NC_000011.10:552630:G:A Identity +NM_006509.4:c.1054G>A NP_006500.2:p.Asp352Asn NC_000019.10:45032595:G:A p.(Asp352Asn) NC_000019.10:45032595:G:A p.(Asp352Asn) NC_000019.10:45032595:G:A Identity +NM_014639.4:c.2500G>A NP_055454.1:p.Val834Ile NC_000005.10:95516686:C:T p.(Val834Ile) NC_000005.10:95516686:C:T p.(Val834Ile) NC_000005.10:95516686:C:T Identity +NM_001317163.2:c.1747C>A NP_001304092.1:p.Pro583Thr NC_000009.12:121017498:G:T p.(Pro583Thr) NC_000009.12:121017498:G:T p.(Pro583Thr) NC_000009.12:121017498:G:T Identity +NM_001385110.1:c.1598G>A NP_001372039.1:p.Arg533Gln NC_000012.12:56348621:C:T p.(Arg533Gln) NC_000012.12:56348621:C:T p.(Arg533Gln) NC_000012.12:56348621:C:T Identity +NM_001270951.2:c.869C>T NP_001257880.1:p.Pro290Leu NC_000018.10:62385002:C:T p.(Pro290Leu) NC_000018.10:62385002:C:T p.(Pro290Leu) NC_000018.10:62385002:C:T Identity +NM_000551.4:c.13G>T NP_000542.1:p.Ala5Ser NC_000003.12:10141859:G:T p.(Ala5Ser) NC_000003.12:10141859:G:T p.(Ala5Ser) NC_000003.12:10141859:G:T Identity +NM_001164097.2:c.3106G>T NP_001157569.1:p.Val1036Phe NC_000005.10:83539069:G:T p.(Val1036Phe) NC_000005.10:83539069:G:T p.(Val1036Phe) NC_000005.10:83539069:G:T Identity +NM_032634.4:c.1955C>A NP_116023.2:p.Pro652His NC_000009.12:35091931:G:T p.(Pro652His) NC_000009.12:35091931:G:T p.(Pro652His) NC_000009.12:35091931:G:T Identity +NM_015311.3:c.4835_4836inv NP_056126.1:p.Thr1612Met NC_000002.12:219554513:TG:CA p.(Thr1612Met) NC_000002.12:219554513:TG:CA p.(Thr1612Met) ERR:SPDI Identity +NM_005732.4:c.1769C>T NP_005723.2:p.Thr590Ile NC_000005.10:132592009:C:T p.(Thr590Ile) NC_000005.10:132592009:C:T p.(Thr590Ile) NC_000005.10:132592009:C:T Identity +NM_020928.2:c.1165A>C NP_065979.1:p.Asn389His NC_000005.10:61490916:A:C p.(Asn389His) NC_000005.10:61490916:A:C p.(Asn389His) NC_000005.10:61490916:A:C Identity +NM_001286075.2:c.1468C>G NP_001273004.1:p.Arg490Gly NC_000016.10:28900658:C:G p.(Arg490Gly) NC_000016.10:28900658:C:G p.(Arg490Gly) NC_000016.10:28900658:C:G Identity +NM_000445.5:c.12259C>T NP_000436.2:p.Arg4087Trp NC_000008.11:143917642:G:A p.(Arg4087Trp) NC_000008.11:143917642:G:A p.(Arg4087Trp) NC_000008.11:143917642:G:A Identity +NM_024675.4:c.3314T>C NP_078951.2:p.Val1105Ala NC_000016.10:23607899:A:G p.(Val1105Ala) NC_000016.10:23607899:A:G p.(Val1105Ala) NC_000016.10:23607899:A:G Identity +NM_001276479.2:c.164A>G NP_001263408.1:p.Asp55Gly NC_000019.10:5719776:T:C p.(Asp55Gly) NC_000019.10:5719776:T:C p.(Asp55Gly) NC_000019.10:5719776:T:C Identity +NM_001378259.1:c.203G>A NP_001365188.1:p.Arg68His NC_000003.12:123448342:C:T p.(Arg68His) NC_000003.12:123448342:C:T p.(Arg68His) NC_000003.12:123448342:C:T Identity +NM_001271427.2:c.317T>C NP_001258356.1:p.Ile106Thr NC_000001.11:19243676:A:G p.(Ile106Thr) NC_000001.11:19243676:A:G p.(Ile106Thr) NC_000001.11:19243676:A:G Identity +NM_014714.4:c.3408C>G NP_055529.2:p.His1136Gln NC_000016.10:1523562:G:C p.(His1136Gln) NC_000016.10:1523562:G:C p.(His1136Gln) NC_000016.10:1523562:G:C Identity +NM_001203247.2:c.1598C>A NP_001190176.1:p.Ser533Ter NC_000007.14:148814972:G:T p.(Ser533Ter) NC_000007.14:148814972:G:T p.(Ser533Ter) NC_000007.14:148814972:G:T Identity +NM_004055.5:c.1091C>T NP_004046.2:p.Thr364Met NC_000011.10:77118275:C:T p.(Thr364Met) NC_000011.10:77118275:C:T p.(Thr364Met) NC_000011.10:77118275:C:T Identity +NM_031935.3:c.8582A>G NP_114141.2:p.Tyr2861Cys NC_000001.11:186078202:A:G p.(Tyr2861Cys) NC_000001.11:186078202:A:G p.(Tyr2861Cys) NC_000001.11:186078202:A:G Identity +NM_001193300.2:c.1408C>T NP_001180229.1:p.Arg470Cys NC_000001.11:156174913:C:T p.(Arg470Cys) NC_000001.11:156174913:C:T p.(Arg470Cys) NC_000001.11:156174913:C:T Identity +NM_001174146.2:c.1165G>A NP_001167617.1:p.Val389Met NC_000009.12:126696394:G:A p.(Val389Met) NC_000009.12:126696394:G:A p.(Val389Met) NC_000009.12:126696394:G:A Identity +NM_001040108.2:c.1585A>C NP_001035197.1:p.Lys529Gln NC_000014.9:75048070:T:G p.(Lys529Gln) NC_000014.9:75048070:T:G p.(Lys529Gln) NC_000014.9:75048070:T:G Identity +NM_001166588.3:c.390G>A NP_001160060.1:p.Met130Ile NC_000001.11:44941569:C:T p.(Met130Ile) NC_000001.11:44941569:C:T p.(Met130Ile) NC_000001.11:44941569:C:T Identity +NM_001042386.2:c.1081C>G NP_001035845.1:p.Leu361Val NC_000002.12:44338424:G:C p.(Leu361Val) NC_000002.12:44338424:G:C p.(Leu361Val) NC_000002.12:44338424:G:C Identity +NM_153603.4:c.1205C>T NP_705831.1:p.Ala402Val NC_000016.10:23417053:G:A p.(Ala402Val) NC_000016.10:23417053:G:A p.(Ala402Val) NC_000016.10:23417053:G:A Identity +NM_001377273.1:c.4166T>C NP_001364202.1:p.Leu1389Pro NC_000012.12:21812093:A:G p.(Leu1389Pro) NC_000012.12:21812093:A:G p.(Leu1389Pro) NC_000012.12:21812093:A:G Identity +NM_001261406.2:c.5270C>G NP_001248335.1:p.Ala1757Gly NC_000009.12:13119511:G:C p.(Ala1757Gly) NC_000009.12:13119511:G:C p.(Ala1757Gly) NC_000009.12:13119511:G:C Identity +NM_000017.4:c.1067C>T NP_000008.1:p.Ala356Val NC_000012.12:120739176:C:T p.(Ala356Val) NC_000012.12:120739176:C:T p.(Ala356Val) NC_000012.12:120739176:C:T Identity +NM_000378.6:c.35C>T NP_000369.4:p.Thr12Met NC_000011.10:32435325:G:A p.(Thr12Met) NC_000011.10:32435325:G:A p.(Thr12Met) NC_000011.10:32435325:G:A Identity +NM_001282933.2:c.2378C>T NP_001269862.1:p.Pro793Leu NC_000020.11:33791329:C:T p.(Pro793Leu) NC_000020.11:33791329:C:T p.(Pro793Leu) NC_000020.11:33791329:C:T Identity +NM_001257137.3:c.107G>T NP_001244066.1:p.Trp36Leu NC_000020.11:34408686:G:T p.(Trp36Leu) NC_000020.11:34408686:G:T p.(Trp36Leu) NC_000020.11:34408686:G:T Identity +NM_001318245.2:c.7604C>T NP_001305174.1:p.Ala2535Val NC_000022.11:26027574:C:T p.(Ala2535Val) NC_000022.11:26027574:C:T p.(Ala2535Val) NC_000022.11:26027574:C:T Identity +NM_003924.4:c.206C>A NP_003915.2:p.Thr69Asn NC_000004.12:41748404:G:T p.(Thr69Asn) NC_000004.12:41748404:G:T p.(Thr69Asn) NC_000004.12:41748404:G:T Identity +NM_002336.3:c.2069T>C NP_002327.2:p.Phe690Ser NC_000012.12:12162402:A:G p.(Phe690Ser) NC_000012.12:12162402:A:G p.(Phe690Ser) NC_000012.12:12162402:A:G Identity +NM_001330209.2:c.2405G>C NP_001317138.1:p.Gly802Ala NC_000023.11:13763780:G:C p.(Gly802Ala) NC_000023.11:13763780:G:C p.(Gly802Ala) NC_000023.11:13763780:G:C Identity +NM_000548.5:c.5390T>C NP_000539.2:p.Ile1797Thr NC_000016.10:2088575:T:C p.(Ile1797Thr) NC_000016.10:2088575:T:C p.(Ile1797Thr) NC_000016.10:2088575:T:C Identity +NM_001348729.2:c.4393G>C NP_001335658.1:p.Gly1465Arg NC_000002.12:8731645:C:G p.(Gly1465Arg) NC_000002.12:8731645:C:G p.(Gly1465Arg) NC_000002.12:8731645:C:G Identity +NM_002470.4:c.2432C>A NP_002461.2:p.Ser811Tyr NC_000017.11:10640245:G:T p.(Ser811Tyr) NC_000017.11:10640245:G:T p.(Ser811Tyr) NC_000017.11:10640245:G:T Identity +NM_001031737.3:c.328G>T NP_001026907.2:p.Gly110Cys NC_000016.10:725519:C:A p.(Gly110Cys) NC_000016.10:725519:C:A p.(Gly110Cys) NC_000016.10:725519:C:A Identity +NM_001367562.3:c.163A>G NP_001354491.2:p.Thr55Ala NC_000007.14:75954163:A:G p.(Thr55Ala) NC_000007.14:75954163:A:G p.(Thr55Ala) NC_000007.14:75954163:A:G Identity +NM_001080522.2:c.4037G>C NP_001073991.2:p.Gly1346Ala NC_000004.12:15586217:G:C p.(Gly1346Ala) NC_000004.12:15586217:G:C p.(Gly1346Ala) NC_000004.12:15586217:G:C Identity +NM_001304482.2:c.4297A>G NP_001291411.1:p.Lys1433Glu NC_000003.12:47412948:A:G p.(Lys1433Glu) NC_000003.12:47412948:A:G p.(Lys1433Glu) NC_000003.12:47412948:A:G Identity +NM_001040610.3:c.2598A>C NP_001035700.1:p.Glu866Asp NC_000015.10:82151702:T:G p.(Glu866Asp) NC_000015.10:82151702:T:G p.(Glu866Asp) NC_000015.10:82151702:T:G Identity +NM_000577.5:c.323T>C NP_000568.1:p.Ile108Thr NC_000002.12:113132713:T:C p.(Ile108Thr) NC_000002.12:113132713:T:C p.(Ile108Thr) NC_000002.12:113132713:T:C Identity +NM_001031714.4:c.745G>A NP_001026884.3:p.Glu249Lys NC_000014.9:104706077:G:A p.(Glu249Lys) NC_000014.9:104706077:G:A p.(Glu249Lys) NC_000014.9:104706077:G:A Identity +NM_001164665.2:c.2702T>C NP_001158137.1:p.Met901Thr NC_000007.14:138916923:A:G p.(Met901Thr) NC_000007.14:138916923:A:G p.(Met901Thr) NC_000007.14:138916923:A:G Identity +NM_001737.5:c.622G>A NP_001728.1:p.Gly208Ser NC_000005.10:39316022:C:T p.(Gly208Ser) NC_000005.10:39316022:C:T p.(Gly208Ser) NC_000005.10:39316022:C:T Identity +NM_001385125.1:c.850A>T NP_001372054.1:p.Ile284Phe NC_000007.14:128773716:T:A p.(Ile284Phe) NC_000007.14:128773716:T:A p.(Ile284Phe) NC_000007.14:128773716:T:A Identity +NM_006509.4:c.1174C>T NP_006500.2:p.Pro392Ser NC_000019.10:45032715:C:T p.(Pro392Ser) NC_000019.10:45032715:C:T p.(Pro392Ser) NC_000019.10:45032715:C:T Identity +NM_173689.7:c.1038C>G NP_775960.4:p.Cys346Trp NC_000009.12:123367669:C:G p.(Cys346Trp) NC_000009.12:123367669:C:G p.(Cys346Trp) NC_000009.12:123367669:C:G Identity +NM_000350.3:c.188C>T NP_000341.2:p.Ser63Leu NC_000001.11:94111551:G:A p.(Ser63Leu) NC_000001.11:94111551:G:A p.(Ser63Leu) NC_000001.11:94111551:G:A Identity +NM_000094.4:c.7627C>T NP_000085.1:p.Pro2543Ser NC_000003.12:48569433:G:A p.(Pro2543Ser) NC_000003.12:48569433:G:A p.(Pro2543Ser) NC_000003.12:48569433:G:A Identity +NM_020207.7:c.4181G>C NP_064592.3:p.Arg1394Thr NC_000009.12:96012730:G:C p.(Arg1394Thr) NC_000009.12:96012730:G:C p.(Arg1394Thr) NC_000009.12:96012730:G:C Identity +NM_001145770.3:c.1468G>A NP_001139242.1:p.Glu490Lys NC_000016.10:57659593:G:A p.(Glu490Lys) NC_000016.10:57659593:G:A p.(Glu490Lys) NC_000016.10:57659593:G:A Identity +NM_001354663.2:c.1694C>T NP_001341592.1:p.Pro565Leu NC_000003.12:193657128:C:T p.(Pro565Leu) NC_000003.12:193657128:C:T p.(Pro565Leu) NC_000003.12:193657128:C:T Identity +NM_001135999.2:c.793T>A NP_001129471.2:p.Ser265Thr NC_000009.12:35547313:T:A p.(Ser265Thr) NC_000009.12:35547313:T:A p.(Ser265Thr) NC_000009.12:35547313:T:A Identity +NM_024884.3:c.477T>G NP_079160.1:p.Asn159Lys NC_000014.9:50294177:A:C p.(Asn159Lys) NC_000014.9:50294177:A:C p.(Asn159Lys) NC_000014.9:50294177:A:C Identity +NM_001321967.2:c.671A>G NP_001308896.1:p.Asp224Gly NC_000010.11:87776339:T:C p.(Asp224Gly) NC_000010.11:87776339:T:C p.(Asp224Gly) NC_000010.11:87776339:T:C Identity +NM_144643.4:c.1059G>C NP_653244.2:p.Glu353Asp NC_000004.12:128957112:C:G p.(Glu353Asp) NC_000004.12:128957112:C:G p.(Glu353Asp) NC_000004.12:128957112:C:G Identity +NM_005450.6:c.355G>T NP_005441.1:p.Glu119Ter NC_000017.11:56594577:G:T p.(Glu119Ter) NC_000017.11:56594577:G:T p.(Glu119Ter) NC_000017.11:56594577:G:T Identity +NM_001127487.2:c.4379G>A NP_001120959.1:p.Arg1460Gln NC_000007.14:128847786:G:A p.(Arg1460Gln) NC_000007.14:128847786:G:A p.(Arg1460Gln) NC_000007.14:128847786:G:A Identity +NM_004525.3:c.13200G>C NP_004516.2:p.Lys4400Asn NC_000002.12:169139609:C:G p.(Lys4400Asn) NC_000002.12:169139609:C:G p.(Lys4400Asn) NC_000002.12:169139609:C:G Identity +NM_001354705.2:c.1106C>T NP_001341634.1:p.Ser369Phe NC_000012.12:57572070:C:T p.(Ser369Phe) NC_000012.12:57572070:C:T p.(Ser369Phe) NC_000012.12:57572070:C:T Identity +NM_000263.4:c.2221G>A NP_000254.2:p.Gly741Ser NC_000017.11:42544226:G:A p.(Gly741Ser) NC_000017.11:42544226:G:A p.(Gly741Ser) NC_000017.11:42544226:G:A Identity +NM_005216.5:c.119G>A NP_005207.3:p.Arg40Gln NC_000001.11:20661231:C:T p.(Arg40Gln) NC_000001.11:20661231:C:T p.(Arg40Gln) NC_000001.11:20661231:C:T Identity +NM_025114.4:c.2929A>G NP_079390.3:p.Arg977Gly NC_000012.12:88102899:T:C p.(Arg977Gly) NC_000012.12:88102899:T:C p.(Arg977Gly) NC_000012.12:88102899:T:C Identity +NM_006059.4:c.4375C>T NP_006050.3:p.Arg1459Trp NC_000009.12:131087619:C:T p.(Arg1459Trp) NC_000009.12:131087619:C:T p.(Arg1459Trp) NC_000009.12:131087619:C:T Identity +NM_001388492.1:c.3980A>G NP_001375421.1:p.Gln1327Arg NC_000004.12:3172944:A:G p.(Gln1327Arg) NC_000004.12:3172944:A:G p.(Gln1327Arg) NC_000004.12:3172944:A:G Identity +NM_001258446.1:c.1114C>T NP_001245375.1:p.Arg372Ter NC_000008.11:143316048:G:A p.(Arg372Ter) NC_000008.11:143316048:G:A p.(Arg372Ter) NC_000008.11:143316048:G:A Identity +NM_001306079.2:c.5254G>A NP_001293008.1:p.Gly1752Arg NC_000002.12:27239744:G:A p.(Gly1752Arg) NC_000002.12:27239744:G:A p.(Gly1752Arg) NC_000002.12:27239744:G:A Identity +NM_015909.4:c.1517G>A NP_056993.2:p.Arg506Gln NC_000002.12:15474148:C:T p.(Arg506Gln) NC_000002.12:15474148:C:T p.(Arg506Gln) NC_000002.12:15474148:C:T Identity +NM_032444.4:c.3226C>A NP_115820.2:p.Pro1076Thr NC_000016.10:3590411:G:T p.(Pro1076Thr) NC_000016.10:3590411:G:T p.(Pro1076Thr) NC_000016.10:3590411:G:T Identity +NM_004252.5:c.44G>T NP_004243.1:p.Cys15Phe NC_000017.11:74748889:G:T p.(Cys15Phe) NC_000017.11:74748889:G:T p.(Cys15Phe) NC_000017.11:74748889:G:T Identity +NM_016107.5:c.3114G>A NP_057191.2:p.Met1038Ile NC_000005.10:32355870:C:T p.(Met1038Ile) NC_000005.10:32355870:C:T p.(Met1038Ile) NC_000005.10:32355870:C:T Identity +NM_001317924.2:c.1867A>G NP_001304853.1:p.Ile623Val NC_000004.12:39234858:A:G p.(Ile623Val) NC_000004.12:39234858:A:G p.(Ile623Val) NC_000004.12:39234858:A:G Identity +NM_004946.3:c.73C>G NP_004937.1:p.Pro25Ala NC_000005.10:169654431:C:G p.(Pro25Ala) NC_000005.10:169654431:C:G p.(Pro25Ala) NC_000005.10:169654431:C:G Identity +NM_001385640.1:c.673G>A NP_001372569.1:p.Glu225Lys NC_000001.11:930217:G:A p.(Glu225Lys) NC_000001.11:930217:G:A p.(Glu225Lys) NC_000001.11:930217:G:A Identity +NM_001853.4:c.1579G>A NP_001844.3:p.Glu527Lys NC_000020.11:62836507:G:A p.(Glu527Lys) NC_000020.11:62836507:G:A p.(Glu527Lys) NC_000020.11:62836507:G:A Identity +NM_024577.4:c.658G>A NP_078853.2:p.Val220Met NC_000005.10:149041488:C:T p.(Val220Met) NC_000005.10:149041488:C:T p.(Val220Met) NC_000005.10:149041488:C:T Identity +NM_001318360.2:c.335G>T NP_001305289.1:p.Arg112Leu NC_000009.12:108918873:C:A p.(Arg112Leu) NC_000009.12:108918873:C:A p.(Arg112Leu) NC_000009.12:108918873:C:A Identity +NM_001304482.2:c.853C>T NP_001291411.1:p.Leu285Phe NC_000003.12:47408390:C:T p.(Leu285Phe) NC_000003.12:47408390:C:T p.(Leu285Phe) NC_000003.12:47408390:C:T Identity +NM_001304420.3:c.880G>A NP_001291349.1:p.Glu294Lys NC_000003.12:57861999:G:A p.(Glu294Lys) NC_000003.12:57861999:G:A p.(Glu294Lys) NC_000003.12:57861999:G:A Identity +NM_001317090.2:c.128G>T NP_001304019.1:p.Arg43Leu NC_000011.10:64293145:G:T p.(Arg43Leu) NC_000011.10:64293145:G:T p.(Arg43Leu) NC_000011.10:64293145:G:T Identity +NM_001375.3:c.940C>T NP_001366.1:p.Arg314Trp NC_000019.10:12876132:G:A p.(Arg314Trp) NC_000019.10:12876132:G:A p.(Arg314Trp) NC_000019.10:12876132:G:A Identity +NM_001350334.2:c.437A>G NP_001337263.1:p.Tyr146Cys NC_000021.9:32602299:T:C p.(Tyr146Cys) NC_000021.9:32602299:T:C p.(Tyr146Cys) NC_000021.9:32602299:T:C Identity +NM_006269.2:c.5542G>A NP_006260.1:p.Ala1848Thr NC_000008.11:54629423:G:A p.(Ala1848Thr) NC_000008.11:54629423:G:A p.(Ala1848Thr) NC_000008.11:54629423:G:A Identity +NM_000069.3:c.4472G>A NP_000060.2:p.Arg1491Lys NC_000001.11:201047595:C:T p.(Arg1491Lys) NC_000001.11:201047595:C:T p.(Arg1491Lys) NC_000001.11:201047595:C:T Identity +NM_206933.4:c.14217A>T NP_996816.3:p.Arg4739Ser NC_000001.11:215650717:T:A p.(Arg4739Ser) NC_000001.11:215650717:T:A p.(Arg4739Ser) NC_000001.11:215650717:T:A Identity +NM_139318.5:c.1993A>T NP_647479.2:p.Thr665Ser NC_000014.9:62779753:T:A p.(Thr665Ser) NC_000014.9:62779753:T:A p.(Thr665Ser) NC_000014.9:62779753:T:A Identity +NM_001173425.2:c.167A>G NP_001166896.1:p.Glu56Gly NC_000009.12:114504634:T:C p.(Glu56Gly) NC_000009.12:114504634:T:C p.(Glu56Gly) NC_000009.12:114504634:T:C Identity +NM_001163022.3:c.737A>G NP_001156494.1:p.His246Arg NC_000020.11:21162852:A:G p.(His246Arg) NC_000020.11:21162852:A:G p.(His246Arg) NC_000020.11:21162852:A:G Identity +NM_001379141.1:c.1155G>C NP_001366070.1:p.Gln385His NC_000018.10:44950494:G:C p.(Gln385His) NC_000018.10:44950494:G:C p.(Gln385His) NC_000018.10:44950494:G:C Identity +NM_001365999.1:c.8318C>T NP_001352928.1:p.Ala2773Val NC_000001.11:43442984:C:T p.(Ala2773Val) NC_000001.11:43442984:C:T p.(Ala2773Val) NC_000001.11:43442984:C:T Identity +NM_000127.3:c.686A>G NP_000118.2:p.Asn229Ser NC_000008.11:118110360:T:C p.(Asn229Ser) NC_000008.11:118110360:T:C p.(Asn229Ser) NC_000008.11:118110360:T:C Identity +NM_001365536.1:c.4702T>A NP_001352465.1:p.Ser1568Thr NC_000002.12:166204026:A:T p.(Ser1568Thr) NC_000002.12:166204026:A:T p.(Ser1568Thr) NC_000002.12:166204026:A:T Identity +NM_001144769.5:c.7211A>G NP_001138241.1:p.Glu2404Gly NC_000006.12:56572252:T:C p.(Glu2404Gly) NC_000006.12:56572252:T:C p.(Glu2404Gly) NC_000006.12:56572252:T:C Identity +NM_022168.4:c.811G>T NP_071451.2:p.Asp271Tyr NC_000002.12:162293626:C:A p.(Asp271Tyr) NC_000002.12:162293626:C:A p.(Asp271Tyr) NC_000002.12:162293626:C:A Identity +NM_000088.4:c.668C>G NP_000079.2:p.Pro223Arg NC_000017.11:50197759:G:C p.(Pro223Arg) NC_000017.11:50197759:G:C p.(Pro223Arg) NC_000017.11:50197759:G:C Identity +NM_017866.6:c.359del NP_060336.3:p.Thr120fs NC_000008.11:73981196:C: p.(Thr120AsnfsTer34) NC_000008.11:73981196:C: p.(Thr120AsnfsTer34) NC_000008.11:73981196:C: Analogous +NM_001190799.2:c.1981G>C NP_001177728.1:p.Val661Leu NC_000004.12:127892402:G:C p.(Val661Leu) NC_000004.12:127892402:G:C p.(Val661Leu) NC_000004.12:127892402:G:C Identity +NM_001193640.2:c.1717G>A NP_001180569.1:p.Gly573Arg NC_000001.11:197421880:G:A p.(Gly573Arg) NC_000001.11:197421880:G:A p.(Gly573Arg) NC_000001.11:197421880:G:A Identity +NM_006063.3:c.1135G>A NP_006054.2:p.Val379Ile NC_000002.12:169514597:G:A p.(Val379Ile) NC_000002.12:169514597:G:A p.(Val379Ile) NC_000002.12:169514597:G:A Identity +NM_182493.3:c.1358C>T NP_872299.2:p.Ala453Val NC_000016.10:46732311:G:A p.(Ala453Val) NC_000016.10:46732311:G:A p.(Ala453Val) NC_000016.10:46732311:G:A Identity +NM_001276468.2:c.1039G>A NP_001263397.1:p.Val347Met NC_000012.12:57627797:C:T p.(Val347Met) NC_000012.12:57627797:C:T p.(Val347Met) NC_000012.12:57627797:C:T Identity +NM_013432.5:c.707G>A NP_038460.4:p.Arg236Lys NC_000008.11:144442283:C:T p.(Arg236Lys) NC_000008.11:144442283:C:T p.(Arg236Lys) NC_000008.11:144442283:C:T Identity +NM_021950.4:c.40G>A NP_068769.2:p.Ala14Thr NC_000011.10:60462413:G:A p.(Ala14Thr) NC_000011.10:60462413:G:A p.(Ala14Thr) NC_000011.10:60462413:G:A Identity +NM_000535.7:c.956C>T NP_000526.2:p.Pro319Leu NC_000007.14:5992004:G:A p.(Pro319Leu) NC_000007.14:5992004:G:A p.(Pro319Leu) NC_000007.14:5992004:G:A Identity +NM_001271933.2:c.2335C>T NP_001258862.1:p.Arg779Trp NC_000011.10:117392267:C:T p.(Arg779Trp) NC_000011.10:117392267:C:T p.(Arg779Trp) NC_000011.10:117392267:C:T Identity +NM_206933.4:c.15094A>G NP_996816.3:p.Ser5032Gly NC_000001.11:215634661:T:C p.(Ser5032Gly) NC_000001.11:215634661:T:C p.(Ser5032Gly) NC_000001.11:215634661:T:C Identity +NM_001165895.2:c.32C>T NP_001159367.1:p.Ala11Val NC_000019.10:8308258:G:A p.(Ala11Val) NC_000019.10:8308258:G:A p.(Ala11Val) NC_000019.10:8308258:G:A Identity +NM_000090.4:c.1430G>A NP_000081.2:p.Gly477Glu NC_000002.12:188994805:G:A p.(Gly477Glu) NC_000002.12:188994805:G:A p.(Gly477Glu) NC_000002.12:188994805:G:A Identity +NM_005477.3:c.2950C>G NP_005468.1:p.Leu984Val NC_000015.10:73323142:G:C p.(Leu984Val) NC_000015.10:73323142:G:C p.(Leu984Val) NC_000015.10:73323142:G:C Identity +NM_001193307.2:c.424C>T NP_001180236.1:p.Leu142Phe NC_000007.14:93105673:G:A p.(Leu142Phe) NC_000007.14:93105673:G:A p.(Leu142Phe) NC_000007.14:93105673:G:A Identity +NM_000152.5:c.1572C>G NP_000143.2:p.Asn524Lys NC_000017.11:80110960:C:G p.(Asn524Lys) NC_000017.11:80110960:C:G p.(Asn524Lys) NC_000017.11:80110960:C:G Identity +NM_001160227.2:c.6445A>G NP_001153699.1:p.Lys2149Glu NC_000015.10:44566275:T:C p.(Lys2149Glu) NC_000015.10:44566275:T:C p.(Lys2149Glu) NC_000015.10:44566275:T:C Identity +NM_001164507.2:c.19583A>C NP_001157979.2:p.Gln6528Pro NC_000002.12:151553870:T:G p.(Gln6528Pro) NC_000002.12:151553870:T:G p.(Gln6528Pro) NC_000002.12:151553870:T:G Identity +NM_007348.4:c.502A>G NP_031374.2:p.Lys168Glu NC_000001.11:161792140:A:G p.(Lys168Glu) NC_000001.11:161792140:A:G p.(Lys168Glu) NC_000001.11:161792140:A:G Identity +NM_001105206.3:c.3256G>A NP_001098676.2:p.Gly1086Ser NC_000006.12:112139145:C:T p.(Gly1086Ser) NC_000006.12:112139145:C:T p.(Gly1086Ser) NC_000006.12:112139145:C:T Identity +NM_001127198.5:c.2147G>T NP_001120670.1:p.Arg716Leu NC_000017.11:78117518:C:A p.(Arg716Leu) NC_000017.11:78117518:C:A p.(Arg716Leu) NC_000017.11:78117518:C:A Identity +NM_001271427.2:c.2045G>A NP_001258356.1:p.Gly682Glu NC_000001.11:19230859:C:T p.(Gly682Glu) NC_000001.11:19230859:C:T p.(Gly682Glu) NC_000001.11:19230859:C:T Identity +NM_001318245.2:c.3019C>G NP_001305174.1:p.Pro1007Ala NC_000022.11:25832955:C:G p.(Pro1007Ala) NC_000022.11:25832955:C:G p.(Pro1007Ala) NC_000022.11:25832955:C:G Identity +NM_001191028.3:c.2348C>G NP_001177957.2:p.Pro783Arg NC_000007.14:128970205:G:C p.(Pro783Arg) NC_000007.14:128970205:G:C p.(Pro783Arg) NC_000007.14:128970205:G:C Identity +NM_001256850.1:c.98718G>T NP_001243779.1:p.Lys32906Asn NC_000002.12:178532973:C:A p.(Lys32906Asn) NC_000002.12:178532973:C:A p.(Lys32906Asn) NC_000002.12:178532973:C:A Identity +NM_001308301.1:c.1148T>C NP_001295230.1:p.Ile383Thr NC_000016.10:46710732:A:G p.(Ile383Thr) NC_000016.10:46710732:A:G p.(Ile383Thr) NC_000016.10:46710732:A:G Identity +NM_001004426.3:c.1047C>A NP_001004426.1:p.His349Gln NC_000022.11:38132860:G:T p.(His349Gln) NC_000022.11:38132860:G:T p.(His349Gln) NC_000022.11:38132860:G:T Identity +NM_001304482.2:c.4127T>C NP_001291411.1:p.Ile1376Thr NC_000003.12:47412778:T:C p.(Ile1376Thr) NC_000003.12:47412778:T:C p.(Ile1376Thr) NC_000003.12:47412778:T:C Identity +NM_005477.3:c.2846G>C NP_005468.1:p.Arg949Pro NC_000015.10:73323246:C:G p.(Arg949Pro) NC_000015.10:73323246:C:G p.(Arg949Pro) NC_000015.10:73323246:C:G Identity +NM_001135597.2:c.952A>G NP_001129069.1:p.Lys318Glu NC_000002.12:55346263:T:C p.(Lys318Glu) NC_000002.12:55346263:T:C p.(Lys318Glu) NC_000002.12:55346263:T:C Identity +NM_001379500.1:c.2503A>C NP_001366429.1:p.Met835Leu NC_000021.9:45495426:A:C p.(Met835Leu) NC_000021.9:45495426:A:C p.(Met835Leu) NC_000021.9:45495426:A:C Identity +NM_000435.3:c.3545G>A NP_000426.2:p.Cys1182Tyr NC_000019.10:15179197:C:T p.(Cys1182Tyr) NC_000019.10:15179197:C:T p.(Cys1182Tyr) NC_000019.10:15179197:C:T Identity +NM_001001957.2:c.919G>C NP_001001957.2:p.Gly307Arg NC_000001.11:247896504:G:C p.(Gly307Arg) NC_000001.11:247896504:G:C p.(Gly307Arg) NC_000001.11:247896504:G:C Identity +NM_002485.5:c.168C>A NP_002476.2:p.Asn56Lys NC_000008.11:89982724:G:T p.(Asn56Lys) NC_000008.11:89982724:G:T p.(Asn56Lys) NC_000008.11:89982724:G:T Identity +NM_020693.4:c.3212G>A NP_065744.3:p.Arg1071Gln NC_000011.10:117464994:C:T p.(Arg1071Gln) NC_000011.10:117464994:C:T p.(Arg1071Gln) NC_000011.10:117464994:C:T Identity +NM_000495.5:c.3730G>C NP_000486.1:p.Gly1244Arg NC_000023.11:108668443:G:C p.(Gly1244Arg) NC_000023.11:108668443:G:C p.(Gly1244Arg) NC_000023.11:108668443:G:C Identity +NM_001244808.3:c.1201C>T NP_001231737.1:p.Gln401Ter NC_000003.12:70977974:G:A p.(Gln401Ter) NC_000003.12:70977974:G:A p.(Gln401Ter) NC_000003.12:70977974:G:A Identity +NM_001081550.2:c.1844G>A NP_001075019.1:p.Cys615Tyr NC_000023.11:123638119:C:T p.(Cys615Tyr) NC_000023.11:123638119:C:T p.(Cys615Tyr) NC_000023.11:123638119:C:T Identity +NM_000833.5:c.2658T>A NP_000824.1:p.Asn886Lys NC_000016.10:9764885:A:T p.(Asn886Lys) NC_000016.10:9764885:A:T p.(Asn886Lys) NC_000016.10:9764885:A:T Identity +NM_001253697.2:c.3773G>A NP_001240626.1:p.Gly1258Glu NC_000005.10:66075039:G:A p.(Gly1258Glu) NC_000005.10:66075039:G:A p.(Gly1258Glu) NC_000005.10:66075039:G:A Identity +NM_001330609.2:c.1106A>G NP_001317538.1:p.Asn369Ser NC_000008.11:125059513:T:C p.(Asn369Ser) NC_000008.11:125059513:T:C p.(Asn369Ser) NC_000008.11:125059513:T:C Identity +NM_000721.4:c.5476G>T NP_000712.2:p.Ala1826Ser NC_000001.11:181784665:G:T p.(Ala1826Ser) NC_000001.11:181784665:G:T p.(Ala1826Ser) NC_000001.11:181784665:G:T Identity +NM_001008844.3:c.250C>G NP_001008844.1:p.Arg84Gly NC_000006.12:7555796:C:G p.(Arg84Gly) NC_000006.12:7555796:C:G p.(Arg84Gly) NC_000006.12:7555796:C:G Identity +NM_001084.5:c.983T>C NP_001075.1:p.Val328Ala NC_000007.14:101212551:A:G p.(Val328Ala) NC_000007.14:101212551:A:G p.(Val328Ala) NC_000007.14:101212551:A:G Identity +NM_001371986.1:c.2460C>A NP_001358915.1:p.His820Gln NC_000002.12:209826034:C:A p.(His820Gln) NC_000002.12:209826034:C:A p.(His820Gln) NC_000002.12:209826034:C:A Identity +NM_001042498.3:c.610G>A NP_001035963.1:p.Ala204Thr NC_000023.11:48905298:C:T p.(Ala204Thr) NC_000023.11:48905298:C:T p.(Ala204Thr) NC_000023.11:48905298:C:T Identity +NM_001349636.2:c.1560A>C NP_001336565.1:p.Lys520Asn NC_000008.11:85131831:A:C p.(Lys520Asn) NC_000008.11:85131831:A:C p.(Lys520Asn) NC_000008.11:85131831:A:C Identity +NM_001177704.3:c.1462A>T NP_001171175.1:p.Ile488Leu NC_000009.12:14747418:T:A p.(Ile488Leu) NC_000009.12:14747418:T:A p.(Ile488Leu) NC_000009.12:14747418:T:A Identity +NM_001385640.1:c.967G>A NP_001372569.1:p.Gly323Ser NC_000001.11:935895:G:A p.(Gly323Ser) NC_000001.11:935895:G:A p.(Gly323Ser) NC_000001.11:935895:G:A Identity +NM_000138.5:c.449G>A NP_000129.3:p.Cys150Tyr NC_000015.10:48596371:C:T p.(Cys150Tyr) NC_000015.10:48596371:C:T p.(Cys150Tyr) NC_000015.10:48596371:C:T Identity +NM_001318219.1:c.2204C>T NP_001305148.1:p.Ala735Val NC_000020.11:35502468:C:T p.(Ala735Val) NC_000020.11:35502468:C:T p.(Ala735Val) NC_000020.11:35502468:C:T Identity +NM_001278511.2:c.1913G>C NP_001265440.1:p.Arg638Thr NC_000015.10:82664905:C:G p.(Arg638Thr) NC_000015.10:82664905:C:G p.(Arg638Thr) NC_000015.10:82664905:C:G Identity +NM_001318219.1:c.1396G>C NP_001305148.1:p.Glu466Gln NC_000020.11:35496700:G:C p.(Glu466Gln) NC_000020.11:35496700:G:C p.(Glu466Gln) NC_000020.11:35496700:G:C Identity +NM_001243254.2:c.3233G>A NP_001230183.1:p.Arg1078Gln NC_000011.10:9144167:C:T p.(Arg1078Gln) NC_000011.10:9144167:C:T p.(Arg1078Gln) NC_000011.10:9144167:C:T Identity +NM_001353765.2:c.1635T>G NP_001340694.1:p.Asn545Lys NC_000002.12:29193247:A:C p.(Asn545Lys) NC_000002.12:29193247:A:C p.(Asn545Lys) NC_000002.12:29193247:A:C Identity +NM_000264.5:c.3078C>A NP_000255.2:p.His1026Gln NC_000009.12:95458102:G:T p.(His1026Gln) NC_000009.12:95458102:G:T p.(His1026Gln) NC_000009.12:95458102:G:T Identity +NM_001350626.2:c.412C>T NP_001337555.1:p.Arg138Cys NC_000007.14:2544926:G:A p.(Arg138Cys) NC_000007.14:2544926:G:A p.(Arg138Cys) NC_000007.14:2544926:G:A Identity +NM_000077.5:c.16G>T NP_000068.1:p.Gly6Trp NC_000009.12:21974811:C:A p.(Gly6Trp) NC_000009.12:21974811:C:A p.(Gly6Trp) NC_000009.12:21974811:C:A Identity +NM_001371411.1:c.421G>T NP_001358340.1:p.Gly141Cys NC_000002.12:227699293:C:A p.(Gly141Cys) NC_000002.12:227699293:C:A p.(Gly141Cys) NC_000002.12:227699293:C:A Identity +NM_000391.4:c.1399C>T NP_000382.3:p.Pro467Ser NC_000011.10:6615196:G:A p.(Pro467Ser) NC_000011.10:6615196:G:A p.(Pro467Ser) NC_000011.10:6615196:G:A Identity +NM_000719.7:c.5987C>T NP_000710.5:p.Ala1996Val NC_000012.12:2688648:C:T p.(Ala1996Val) NC_000012.12:2688648:C:T p.(Ala1996Val) NC_000012.12:2688648:C:T Identity +NM_007254.4:c.872C>G NP_009185.2:p.Ala291Gly NC_000019.10:49862601:G:C p.(Ala291Gly) NC_000019.10:49862601:G:C p.(Ala291Gly) NC_000019.10:49862601:G:C Identity +NM_001363907.1:c.1291A>G NP_001350836.1:p.Asn431Asp NC_000016.10:85921261:A:G p.(Asn431Asp) NC_000016.10:85921261:A:G p.(Asn431Asp) NC_000016.10:85921261:A:G Identity +NM_000051.4:c.3160C>A NP_000042.3:p.Pro1054Thr NC_000011.10:108272727:C:A p.(Pro1054Thr) NC_000011.10:108272727:C:A p.(Pro1054Thr) NC_000011.10:108272727:C:A Identity +NM_001080115.2:c.380G>A NP_001073584.1:p.Arg127Lys NC_000010.11:86681493:G:A p.(Arg127Lys) NC_000010.11:86681493:G:A p.(Arg127Lys) NC_000010.11:86681493:G:A Identity +NM_016360.4:c.451G>A NP_057444.2:p.Glu151Lys NC_000017.11:63606375:G:A p.(Glu151Lys) NC_000017.11:63606375:G:A p.(Glu151Lys) NC_000017.11:63606375:G:A Identity +NM_001166111.2:c.166C>T NP_001159583.1:p.Pro56Ser NC_000019.10:7535926:C:T p.(Pro56Ser) NC_000019.10:7535926:C:T p.(Pro56Ser) NC_000019.10:7535926:C:T Identity +NM_001018037.2:c.6062G>A NP_001018047.1:p.Gly2021Asp NC_000009.12:77337337:G:A p.(Gly2021Asp) NC_000009.12:77337337:G:A p.(Gly2021Asp) NC_000009.12:77337337:G:A Identity +NM_001164665.2:c.374A>G NP_001158137.1:p.Gln125Arg NC_000007.14:138919251:T:C p.(Gln125Arg) NC_000007.14:138919251:T:C p.(Gln125Arg) NC_000007.14:138919251:T:C Identity +NM_012106.4:c.484C>T NP_036238.1:p.Arg162Trp NC_000016.10:57252258:C:T p.(Arg162Trp) NC_000016.10:57252258:C:T p.(Arg162Trp) NC_000016.10:57252258:C:T Identity +NM_002087.4:c.1145C>T NP_002078.1:p.Thr382Met NC_000017.11:44351760:C:T p.(Thr382Met) NC_000017.11:44351760:C:T p.(Thr382Met) NC_000017.11:44351760:C:T Identity +NM_005751.5:c.3857A>G NP_005742.4:p.Asp1286Gly NC_000007.14:92022256:A:G p.(Asp1286Gly) NC_000007.14:92022256:A:G p.(Asp1286Gly) NC_000007.14:92022256:A:G Identity +NM_001348729.2:c.4391C>A NP_001335658.1:p.Ser1464Ter NC_000002.12:8731647:G:T p.(Ser1464Ter) NC_000002.12:8731647:G:T p.(Ser1464Ter) NC_000002.12:8731647:G:T Identity +NM_001042472.3:c.149C>T NP_001035937.1:p.Pro50Leu NC_000020.11:25390554:G:A p.(Pro50Leu) NC_000020.11:25390554:G:A p.(Pro50Leu) NC_000020.11:25390554:G:A Identity +NM_015425.6:c.4042_4043delinsCT NP_056240.2:p.Lys1348Leu NC_000002.12:86033778:TT:AG p.(Lys1348Leu) NC_000002.12:86033778:TT:AG p.(Lys1348Leu) NC_000002.12:86033778:TT:AG Identity +NM_001291415.2:c.3955A>G NP_001278344.1:p.Ile1319Val NC_000023.11:45090784:A:G p.(Ile1319Val) NC_000023.11:45090784:A:G p.(Ile1319Val) NC_000023.11:45090784:A:G Identity +NM_144701.3:c.929_930delinsCC NP_653302.2:p.Leu310Pro NC_000001.11:67219703:TG:CC p.(Leu310Pro) NC_000001.11:67219703:TG:CC p.(Leu310Pro) NC_000001.11:67219703:TG:CC Identity +NM_001244580.2:c.4091C>T NP_001231509.1:p.Pro1364Leu NC_000007.14:98935654:C:T p.(Pro1364Leu) NC_000007.14:98935654:C:T p.(Pro1364Leu) NC_000007.14:98935654:C:T Identity +NM_001291411.2:c.1416del NP_001278340.2:p.Pro473fs NC_000021.9:33550646:A: p.(Pro473LeufsTer2) NC_000021.9:33550646:A: p.(Pro473LeufsTer2) NC_000021.9:33550646:A: Analogous +NM_000089.4:c.3337G>A NP_000080.2:p.Asp1113Asn NC_000007.14:94427695:G:A p.(Asp1113Asn) NC_000007.14:94427695:G:A p.(Asp1113Asn) NC_000007.14:94427695:G:A Identity +NM_000203.5:c.589G>A NP_000194.2:p.Gly197Ser NC_000004.12:1001562:G:A p.(Gly197Ser) NC_000004.12:1001562:G:A p.(Gly197Ser) NC_000004.12:1001562:G:A Identity +NM_005993.5:c.1720C>T NP_005984.3:p.His574Tyr NC_000017.11:82900720:C:T p.(His574Tyr) NC_000017.11:82900720:C:T p.(His574Tyr) NC_000017.11:82900720:C:T Identity +NM_001388492.1:c.6925T>C NP_001375421.1:p.Tyr2309His NC_000004.12:3214107:T:C p.(Tyr2309His) NC_000004.12:3214107:T:C p.(Tyr2309His) NC_000004.12:3214107:T:C Identity +NM_023935.3:c.607G>A NP_076424.1:p.Val203Ile NC_000020.11:3195256:C:T p.(Val203Ile) NC_000020.11:3195256:C:T p.(Val203Ile) NC_000020.11:3195256:C:T Identity +NM_001114331.3:c.922A>G NP_001107803.1:p.Met308Val NC_000016.10:1455237:T:C p.(Met308Val) NC_000016.10:1455237:T:C p.(Met308Val) NC_000016.10:1455237:T:C Identity +NM_001018111.3:c.1618G>A NP_001018121.1:p.Val540Ile NC_000007.14:131504369:C:T p.(Val540Ile) NC_000007.14:131504369:C:T p.(Val540Ile) NC_000007.14:131504369:C:T Identity +NM_001171087.3:c.268G>C NP_001164558.1:p.Asp90His NC_000003.12:184358765:C:G p.(Asp90His) NC_000003.12:184358765:C:G p.(Asp90His) NC_000003.12:184358765:C:G Identity +NM_006766.5:c.2864C>G NP_006757.2:p.Pro955Arg NC_000008.11:41941016:G:C p.(Pro955Arg) NC_000008.11:41941016:G:C p.(Pro955Arg) NC_000008.11:41941016:G:C Identity +NM_014510.3:c.5891C>T NP_055325.2:p.Thr1964Met NC_000007.14:82955061:G:A p.(Thr1964Met) NC_000007.14:82955061:G:A p.(Thr1964Met) NC_000007.14:82955061:G:A Identity +NM_001258215.1:c.1836G>A NP_001245144.1:p.Thr612= NC_000001.11:67395593:G:A p.(Thr612=) NC_000001.11:67395593:G:A p.(Thr612=) NC_000001.11:67395593:G:A Identity +NM_001195728.3:c.901G>A NP_001182657.1:p.Ala301Thr NC_000011.10:35292449:C:T p.(Ala301Thr) NC_000011.10:35292449:C:T p.(Ala301Thr) NC_000011.10:35292449:C:T Identity +NM_014727.3:c.817G>C NP_055542.1:p.Gly273Arg NC_000019.10:35720163:G:C p.(Gly273Arg) NC_000019.10:35720163:G:C p.(Gly273Arg) NC_000019.10:35720163:G:C Identity +NM_013432.5:c.1910C>T NP_038460.4:p.Thr637Met NC_000008.11:144436661:G:A p.(Thr637Met) NC_000008.11:144436661:G:A p.(Thr637Met) NC_000008.11:144436661:G:A Identity +NM_005208.5:c.173G>A NP_005199.2:p.Arg58His NC_000017.11:29250257:G:A p.(Arg58His) NC_000017.11:29250257:G:A p.(Arg58His) NC_000017.11:29250257:G:A Identity +NM_145020.5:c.71G>T NP_659457.2:p.Arg24Ile NC_000018.10:50262217:C:A p.(Arg24Ile) NC_000018.10:50262217:C:A p.(Arg24Ile) NC_000018.10:50262217:C:A Identity +NM_001164271.2:c.838G>A NP_001157743.1:p.Val280Met NC_000008.11:13099965:C:T p.(Val280Met) NC_000008.11:13099965:C:T p.(Val280Met) NC_000008.11:13099965:C:T Identity +NM_001291411.2:c.3914T>C NP_001278340.2:p.Met1305Thr NC_000021.9:33553144:T:C p.(Met1305Thr) NC_000021.9:33553144:T:C p.(Met1305Thr) NC_000021.9:33553144:T:C Identity +NM_003776.4:c.32T>C NP_003767.2:p.Leu11Pro NC_000022.11:19432585:T:C p.(Leu11Pro) NC_000022.11:19432585:T:C p.(Leu11Pro) NC_000022.11:19432585:T:C Identity +NM_001286577.2:c.718C>G NP_001273506.1:p.His240Asp NC_000011.10:74138956:G:C p.(His240Asp) NC_000011.10:74138956:G:C p.(His240Asp) NC_000011.10:74138956:G:C Identity +NM_001320759.2:c.555C>G NP_001307688.1:p.Ile185Met NC_000017.11:18301959:G:C p.(Ile185Met) NC_000017.11:18301959:G:C p.(Ile185Met) NC_000017.11:18301959:G:C Identity +NM_001041.4:c.2321G>A NP_001032.2:p.Arg774Lys NC_000003.12:165038004:C:T p.(Arg774Lys) NC_000003.12:165038004:C:T p.(Arg774Lys) NC_000003.12:165038004:C:T Identity +NM_001371656.1:c.1174G>A NP_001358585.1:p.Gly392Ser NC_000006.12:156778853:G:A p.(Gly392Ser) NC_000006.12:156778853:G:A p.(Gly392Ser) NC_000006.12:156778853:G:A Identity +NM_001012509.4:c.803A>G NP_001012527.2:p.Tyr268Cys NC_000005.10:33963775:T:C p.(Tyr268Cys) NC_000005.10:33963775:T:C p.(Tyr268Cys) NC_000005.10:33963775:T:C Identity +NM_020693.4:c.5603G>A NP_065744.3:p.Arg1868His NC_000011.10:117430804:C:T p.(Arg1868His) NC_000011.10:117430804:C:T p.(Arg1868His) NC_000011.10:117430804:C:T Identity +NM_052813.5:c.1153G>T NP_434700.2:p.Val385Leu NC_000009.12:136367752:C:A p.(Val385Leu) NC_000009.12:136367752:C:A p.(Val385Leu) NC_000009.12:136367752:C:A Identity +NM_001160036.2:c.863C>T NP_001153508.1:p.Ala288Val NC_000008.11:23007041:C:T p.(Ala288Val) NC_000008.11:23007041:C:T p.(Ala288Val) NC_000008.11:23007041:C:T Identity +NM_001292034.3:c.874A>G NP_001278963.1:p.Thr292Ala NC_000006.12:149378788:A:G p.(Thr292Ala) NC_000006.12:149378788:A:G p.(Thr292Ala) NC_000006.12:149378788:A:G Identity +NM_000227.6:c.3673G>A NP_000218.3:p.Gly1225Ser NC_000018.10:23931124:G:A p.(Gly1225Ser) NC_000018.10:23931124:G:A p.(Gly1225Ser) NC_000018.10:23931124:G:A Identity +NM_005559.4:c.4618G>A NP_005550.2:p.Asp1540Asn NC_000018.10:6999489:C:T p.(Asp1540Asn) NC_000018.10:6999489:C:T p.(Asp1540Asn) NC_000018.10:6999489:C:T Identity +NM_031935.3:c.9808G>C NP_114141.2:p.Ala3270Pro NC_000001.11:186090837:G:C p.(Ala3270Pro) NC_000001.11:186090837:G:C p.(Ala3270Pro) NC_000001.11:186090837:G:C Identity +NM_001369346.1:c.2179G>A NP_001356275.1:p.Val727Ile NC_000002.12:25743983:C:T p.(Val727Ile) NC_000002.12:25743983:C:T p.(Val727Ile) NC_000002.12:25743983:C:T Identity +NM_001371656.1:c.1226G>C NP_001358585.1:p.Gly409Ala NC_000006.12:156778905:G:C p.(Gly409Ala) NC_000006.12:156778905:G:C p.(Gly409Ala) NC_000006.12:156778905:G:C Identity +NM_001363810.1:c.241A>G NP_001350739.1:p.Thr81Ala NC_000023.11:151403652:A:G p.(Thr81Ala) NC_000023.11:151403652:A:G p.(Thr81Ala) NC_000023.11:151403652:A:G Identity +NM_001369346.1:c.1649G>A NP_001356275.1:p.Gly550Glu NC_000002.12:25749732:C:T p.(Gly550Glu) NC_000002.12:25749732:C:T p.(Gly550Glu) NC_000002.12:25749732:C:T Identity +NM_000168.6:c.1325A>G NP_000159.3:p.Asp442Gly NC_000007.14:42025294:T:C p.(Asp442Gly) NC_000007.14:42025294:T:C p.(Asp442Gly) NC_000007.14:42025294:T:C Identity +NM_000498.3:c.65G>A NP_000489.3:p.Arg22Gln NC_000008.11:142917775:C:T p.(Arg22Gln) NC_000008.11:142917775:C:T p.(Arg22Gln) NC_000008.11:142917775:C:T Identity +NM_170606.3:c.6530A>G NP_733751.2:p.Gln2177Arg NC_000007.14:152181329:T:C p.(Gln2177Arg) NC_000007.14:152181329:T:C p.(Gln2177Arg) NC_000007.14:152181329:T:C Identity +NM_000404.4:c.1593_1594inv NP_000395.3:p.Ser532Gly NC_000003.12:33014195:TG:CA p.(Ser532Gly) NC_000003.12:33014195:TG:CA p.(Ser532Gly) ERR:SPDI Identity +NM_001318781.2:c.5650G>A NP_001305710.1:p.Val1884Ile NC_000003.12:64522244:C:T p.(Val1884Ile) NC_000003.12:64522244:C:T p.(Val1884Ile) NC_000003.12:64522244:C:T Identity +NM_001378120.1:c.1117C>G NP_001365049.1:p.Pro373Ala NC_000002.12:148469059:C:G p.(Pro373Ala) NC_000002.12:148469059:C:G p.(Pro373Ala) NC_000002.12:148469059:C:G Identity +NM_001243254.2:c.1429A>G NP_001230183.1:p.Lys477Glu NC_000011.10:9180792:T:C p.(Lys477Glu) NC_000011.10:9180792:T:C p.(Lys477Glu) NC_000011.10:9180792:T:C Identity +NM_001369.3:c.2816C>T NP_001360.1:p.Thr939Met NC_000005.10:13885155:G:A p.(Thr939Met) NC_000005.10:13885155:G:A p.(Thr939Met) NC_000005.10:13885155:G:A Identity +NM_001329090.2:c.1304G>T NP_001316019.1:p.Gly435Val NC_000001.11:16135151:C:A p.(Gly435Val) NC_000001.11:16135151:C:A p.(Gly435Val) NC_000001.11:16135151:C:A Identity +NM_001318245.2:c.3763C>T NP_001305174.1:p.Arg1255Cys NC_000022.11:25847636:C:T p.(Arg1255Cys) NC_000022.11:25847636:C:T p.(Arg1255Cys) NC_000022.11:25847636:C:T Identity +NM_014241.4:c.74C>G NP_055056.3:p.Thr25Arg NC_000010.11:17617265:G:C p.(Thr25Arg) NC_000010.11:17617265:G:C p.(Thr25Arg) NC_000010.11:17617265:G:C Identity +NM_001167614.2:c.1729T>G NP_001161086.1:p.Ser577Ala NC_000012.12:65238537:T:G p.(Ser577Ala) NC_000012.12:65238537:T:G p.(Ser577Ala) NC_000012.12:65238537:T:G Identity +NM_001291415.2:c.1671G>C NP_001278344.1:p.Met557Ile NC_000023.11:45062735:G:C p.(Met557Ile) NC_000023.11:45062735:G:C p.(Met557Ile) NC_000023.11:45062735:G:C Identity +NM_001012331.2:c.178C>A NP_001012331.1:p.His60Asn NC_000001.11:156861111:C:A p.(His60Asn) NC_000001.11:156861111:C:A p.(His60Asn) NC_000001.11:156861111:C:A Identity +NM_001377292.1:c.292C>T NP_001364221.1:p.His98Tyr NC_000003.12:192170481:G:A p.(His98Tyr) NC_000003.12:192170481:G:A p.(His98Tyr) NC_000003.12:192170481:G:A Identity +NM_000908.4:c.1585C>T NP_000899.1:p.Arg529Trp NC_000005.10:32786306:C:T p.(Arg529Trp) NC_000005.10:32786306:C:T p.(Arg529Trp) NC_000005.10:32786306:C:T Identity +NM_001318491.2:c.2016G>A NP_001305420.1:p.Leu672= NC_000013.11:20663501:G:A p.(Leu672=) NC_000013.11:20663501:G:A p.(Leu672=) NC_000013.11:20663501:G:A Identity +NM_001300900.2:c.457G>C NP_001287829.1:p.Glu153Gln NC_000016.10:1772441:C:G p.(Glu153Gln) NC_000016.10:1772441:C:G p.(Glu153Gln) NC_000016.10:1772441:C:G Identity +NM_021798.4:c.1433C>T NP_068570.1:p.Ala478Val NC_000016.10:27449098:C:T p.(Ala478Val) NC_000016.10:27449098:C:T p.(Ala478Val) NC_000016.10:27449098:C:T Identity +NM_001386500.1:c.919G>A NP_001373429.1:p.Gly307Arg NC_000001.11:11248015:C:T p.(Gly307Arg) NC_000001.11:11248015:C:T p.(Gly307Arg) NC_000001.11:11248015:C:T Identity +NM_001379141.1:c.1112G>T NP_001366070.1:p.Gly371Val NC_000018.10:44950451:G:T p.(Gly371Val) NC_000018.10:44950451:G:T p.(Gly371Val) NC_000018.10:44950451:G:T Identity +NM_000489.6:c.2087G>C NP_000480.3:p.Arg696Thr NC_000023.11:77683168:C:G p.(Arg696Thr) NC_000023.11:77683168:C:G p.(Arg696Thr) NC_000023.11:77683168:C:G Identity +NM_001001557.4:c.876G>C NP_001001557.1:p.Glu292Asp NC_000008.11:96145054:C:G p.(Glu292Asp) NC_000008.11:96145054:C:G p.(Glu292Asp) NC_000008.11:96145054:C:G Identity +NM_004444.5:c.1258G>A NP_004435.3:p.Val420Ile NC_000007.14:100819595:C:T p.(Val420Ile) NC_000007.14:100819595:C:T p.(Val420Ile) NC_000007.14:100819595:C:T Identity +NM_001136191.3:c.1661C>T NP_001129663.1:p.Ala554Val NC_000019.10:11176676:G:A p.(Ala554Val) NC_000019.10:11176676:G:A p.(Ala554Val) NC_000019.10:11176676:G:A Identity +NM_002238.4:c.2081T>C NP_002229.1:p.Met694Thr NC_000001.11:210684088:A:G p.(Met694Thr) NC_000001.11:210684088:A:G p.(Met694Thr) NC_000001.11:210684088:A:G Identity +NM_001103184.4:c.1094C>T NP_001096654.1:p.Ser365Leu NC_000015.10:33066790:G:A p.(Ser365Leu) NC_000015.10:33066790:G:A p.(Ser365Leu) NC_000015.10:33066790:G:A Identity +NM_001005336.3:c.1375A>G NP_001005336.1:p.Ile459Val NC_000009.12:128234059:A:G p.(Ile459Val) NC_000009.12:128234059:A:G p.(Ile459Val) NC_000009.12:128234059:A:G Identity +NM_001130965.3:c.510G>C NP_001124437.1:p.Gly170= NC_000007.14:843371:G:C p.(Gly170=) NC_000007.14:843371:G:C p.(Gly170=) NC_000007.14:843371:G:C Identity +NM_001330311.2:c.2005G>T NP_001317240.1:p.Val669Phe NC_000001.11:1336224:C:A p.(Val669Phe) NC_000001.11:1336224:C:A p.(Val669Phe) NC_000001.11:1336224:C:A Identity +NM_001164317.2:c.3032A>C NP_001157789.1:p.Glu1011Ala NC_000003.12:58121408:A:C p.(Glu1011Ala) NC_000003.12:58121408:A:C p.(Glu1011Ala) NC_000003.12:58121408:A:C Identity +NM_000742.4:c.1147C>A NP_000733.2:p.Pro383Thr NC_000008.11:27463295:G:T p.(Pro383Thr) NC_000008.11:27463295:G:T p.(Pro383Thr) NC_000008.11:27463295:G:T Identity +NM_032816.5:c.457A>G NP_116205.3:p.Ser153Gly NC_000019.10:32953649:T:C p.(Ser153Gly) NC_000019.10:32953649:T:C p.(Ser153Gly) NC_000019.10:32953649:T:C Identity +NM_001174116.3:c.7190G>A NP_001167587.1:p.Arg2397Gln NC_000015.10:51474366:C:T p.(Arg2397Gln) NC_000015.10:51474366:C:T p.(Arg2397Gln) NC_000015.10:51474366:C:T Identity +NM_001157.3:c.191C>T NP_001148.1:p.Thr64Ile NC_000010.11:80169338:G:A p.(Thr64Ile) NC_000010.11:80169338:G:A p.(Thr64Ile) NC_000010.11:80169338:G:A Identity +NM_001349413.1:c.590A>C NP_001336342.1:p.Asp197Ala NC_000003.12:183650945:A:C p.(Asp197Ala) NC_000003.12:183650945:A:C p.(Asp197Ala) NC_000003.12:183650945:A:C Identity +NM_001171184.2:c.166G>A NP_001164655.1:p.Asp56Asn NC_000023.11:101237736:G:A p.(Asp56Asn) NC_000023.11:101237736:G:A p.(Asp56Asn) NC_000023.11:101237736:G:A Identity +NM_001362843.2:c.448T>C NP_001349772.1:p.Ser150Pro NC_000022.11:41117539:T:C p.(Ser150Pro) NC_000022.11:41117539:T:C p.(Ser150Pro) NC_000022.11:41117539:T:C Identity +NM_001160130.2:c.2401A>G NP_001153602.1:p.Met801Val NC_000006.12:73195042:A:G p.(Met801Val) NC_000006.12:73195042:A:G p.(Met801Val) NC_000006.12:73195042:A:G Identity +NM_000833.5:c.3402G>C NP_000824.1:p.Gln1134His NC_000016.10:9764141:C:G p.(Gln1134His) NC_000016.10:9764141:C:G p.(Gln1134His) NC_000016.10:9764141:C:G Identity +NM_001355216.2:c.2437C>A NP_001342145.1:p.His813Asn NC_000010.11:43126733:C:A p.(His813Asn) NC_000010.11:43126733:C:A p.(His813Asn) NC_000010.11:43126733:C:A Identity +NM_000059.4:c.5634C>A NP_000050.3:p.Asn1878Lys NC_000013.11:32339988:C:A p.(Asn1878Lys) NC_000013.11:32339988:C:A p.(Asn1878Lys) NC_000013.11:32339988:C:A Identity +NM_016580.4:c.2830G>A NP_057664.1:p.Ala944Thr NC_000005.10:141955021:C:T p.(Ala944Thr) NC_000005.10:141955021:C:T p.(Ala944Thr) NC_000005.10:141955021:C:T Identity +NM_001365517.2:c.4114G>A NP_001352446.1:p.Asp1372Asn NC_000002.12:215391769:C:T p.(Asp1372Asn) NC_000002.12:215391769:C:T p.(Asp1372Asn) NC_000002.12:215391769:C:T Identity +NM_138694.4:c.7237C>T NP_619639.3:p.Arg2413Cys NC_000006.12:51883205:G:A p.(Arg2413Cys) NC_000006.12:51883205:G:A p.(Arg2413Cys) NC_000006.12:51883205:G:A Identity +NM_033402.5:c.207T>A NP_208325.3:p.His69Gln NC_000008.11:85109696:T:A p.(His69Gln) NC_000008.11:85109696:T:A p.(His69Gln) NC_000008.11:85109696:T:A Identity +NM_001080976.3:c.600A>G NP_001074445.1:p.Gln200= NC_000006.12:116426756:A:G p.(Gln200=) NC_000006.12:116426756:A:G p.(Gln200=) NC_000006.12:116426756:A:G Identity +NM_001288705.3:c.110C>T NP_001275634.1:p.Thr37Met NC_000005.10:150080963:G:A p.(Thr37Met) NC_000005.10:150080963:G:A p.(Thr37Met) NC_000005.10:150080963:G:A Identity +NM_000168.6:c.4625G>A NP_000159.3:p.Arg1542Gln NC_000007.14:41964447:C:T p.(Arg1542Gln) NC_000007.14:41964447:C:T p.(Arg1542Gln) NC_000007.14:41964447:C:T Identity +NM_001277313.2:c.1179T>G NP_001264242.1:p.Asp393Glu NC_000015.10:33153735:A:C p.(Asp393Glu) NC_000015.10:33153735:A:C p.(Asp393Glu) NC_000015.10:33153735:A:C Identity +NM_016350.5:c.3509A>G NP_057434.4:p.Asn1170Ser NC_000014.9:50738266:T:C p.(Asn1170Ser) NC_000014.9:50738266:T:C p.(Asn1170Ser) NC_000014.9:50738266:T:C Identity +NM_001029998.6:c.703G>T NP_001025169.1:p.Val235Phe NC_000004.12:146293947:C:A p.(Val235Phe) NC_000004.12:146293947:C:A p.(Val235Phe) NC_000004.12:146293947:C:A Identity +NM_003906.5:c.4726G>A NP_003897.2:p.Val1576Ile NC_000021.9:46245118:C:T p.(Val1576Ile) NC_000021.9:46245118:C:T p.(Val1576Ile) NC_000021.9:46245118:C:T Identity +NM_001291593.2:c.1606C>T NP_001278522.1:p.Pro536Ser NC_000001.11:5874556:G:A p.(Pro536Ser) NC_000001.11:5874556:G:A p.(Pro536Ser) NC_000001.11:5874556:G:A Identity +NM_173354.5:c.880G>A NP_775490.2:p.Ala294Thr NC_000021.9:43420325:C:T p.(Ala294Thr) NC_000021.9:43420325:C:T p.(Ala294Thr) NC_000021.9:43420325:C:T Identity +NM_001388492.1:c.7332A>T NP_001375421.1:p.Glu2444Asp NC_000004.12:3220270:A:T p.(Glu2444Asp) NC_000004.12:3220270:A:T p.(Glu2444Asp) NC_000004.12:3220270:A:T Identity +NM_001376.5:c.7351C>T NP_001367.2:p.Arg2451Cys NC_000014.9:102015963:C:T p.(Arg2451Cys) NC_000014.9:102015963:C:T p.(Arg2451Cys) NC_000014.9:102015963:C:T Identity +NM_138801.3:c.566T>C NP_620156.1:p.Ile189Thr NC_000002.12:38689825:T:C p.(Ile189Thr) NC_000002.12:38689825:T:C p.(Ile189Thr) NC_000002.12:38689825:T:C Identity +NM_001345868.2:c.829G>A NP_001332797.1:p.Asp277Asn NC_000004.12:44686603:G:A p.(Asp277Asn) NC_000004.12:44686603:G:A p.(Asp277Asn) NC_000004.12:44686603:G:A Identity +NM_000836.4:c.3436G>C NP_000827.2:p.Gly1146Arg NC_000019.10:48443361:G:C p.(Gly1146Arg) NC_000019.10:48443361:G:C p.(Gly1146Arg) NC_000019.10:48443361:G:C Identity +NM_001282237.2:c.548C>T NP_001269166.1:p.Pro183Leu NC_000014.9:99231433:G:A p.(Pro183Leu) NC_000014.9:99231433:G:A p.(Pro183Leu) NC_000014.9:99231433:G:A Identity +NM_005557.4:c.121C>T NP_005548.2:p.Arg41Cys NC_000017.11:41612567:G:A p.(Arg41Cys) NC_000017.11:41612567:G:A p.(Arg41Cys) NC_000017.11:41612567:G:A Identity +NM_001367759.1:c.1124C>A NP_001354688.1:p.Thr375Lys NC_000006.12:121299461:G:T p.(Thr375Lys) NC_000006.12:121299461:G:T p.(Thr375Lys) NC_000006.12:121299461:G:T Identity +NM_005560.6:c.4307G>A NP_005551.3:p.Arg1436His NC_000020.11:62328983:C:T p.(Arg1436His) NC_000020.11:62328983:C:T p.(Arg1436His) NC_000020.11:62328983:C:T Identity +NM_021072.4:c.2030A>G NP_066550.2:p.Asn677Ser NC_000005.10:45262563:T:C p.(Asn677Ser) NC_000005.10:45262563:T:C p.(Asn677Ser) NC_000005.10:45262563:T:C Identity +NM_001145716.2:c.826A>G NP_001139188.1:p.Thr276Ala NC_000006.12:36302168:A:G p.(Thr276Ala) NC_000006.12:36302168:A:G p.(Thr276Ala) NC_000006.12:36302168:A:G Identity +NM_000254.3:c.685G>A NP_000245.2:p.Val229Ile NC_000001.11:236816463:G:A p.(Val229Ile) NC_000001.11:236816463:G:A p.(Val229Ile) NC_000001.11:236816463:G:A Identity +NM_001260474.2:c.70G>T NP_001247403.1:p.Ala24Ser NC_000021.9:42879425:C:A p.(Ala24Ser) NC_000021.9:42879425:C:A p.(Ala24Ser) NC_000021.9:42879425:C:A Identity +NM_003392.7:c.20T>C NP_003383.4:p.Ile7Thr NC_000003.12:55480904:A:G p.(Ile7Thr) NC_000003.12:55480904:A:G p.(Ile7Thr) NC_000003.12:55480904:A:G Identity +NM_004621.6:c.667A>G NP_004612.2:p.Ile223Val NC_000011.10:101504301:T:C p.(Ile223Val) NC_000011.10:101504301:T:C p.(Ile223Val) NC_000011.10:101504301:T:C Identity +NM_018230.3:c.880A>G NP_060700.2:p.Ile294Val NC_000001.11:229495986:T:C p.(Ile294Val) NC_000001.11:229495986:T:C p.(Ile294Val) NC_000001.11:229495986:T:C Identity +NM_001362884.2:c.1331G>C NP_001349813.1:p.Gly444Ala NC_000008.11:20250181:C:G p.(Gly444Ala) NC_000008.11:20250181:C:G p.(Gly444Ala) NC_000008.11:20250181:C:G Identity +NM_001256789.3:c.5560C>A NP_001243718.1:p.Leu1854Ile NC_000023.11:49205725:G:T p.(Leu1854Ile) NC_000023.11:49205725:G:T p.(Leu1854Ile) NC_000023.11:49205725:G:T Identity +NM_001369.3:c.6515A>G NP_001360.1:p.Asn2172Ser NC_000005.10:13824262:T:C p.(Asn2172Ser) NC_000005.10:13824262:T:C p.(Asn2172Ser) NC_000005.10:13824262:T:C Identity +NM_001207047.3:c.1618G>A NP_001193976.1:p.Ala540Thr NC_000020.11:3572824:G:A p.(Ala540Thr) NC_000020.11:3572824:G:A p.(Ala540Thr) NC_000020.11:3572824:G:A Identity +NM_001128228.3:c.1700C>T NP_001121700.2:p.Thr567Ile NC_000009.12:137199011:G:A p.(Thr567Ile) NC_000009.12:137199011:G:A p.(Thr567Ile) NC_000009.12:137199011:G:A Identity +NM_017671.5:c.898A>G NP_060141.3:p.Ile300Val NC_000020.11:6097582:T:C p.(Ile300Val) NC_000020.11:6097582:T:C p.(Ile300Val) NC_000020.11:6097582:T:C Identity +NM_001008537.3:c.2849A>G NP_001008537.1:p.Tyr950Cys NC_000023.11:74741707:T:C p.(Tyr950Cys) NC_000023.11:74741707:T:C p.(Tyr950Cys) NC_000023.11:74741707:T:C Identity +NM_001318496.2:c.140G>A NP_001305425.1:p.Arg47His NC_000011.10:67522632:C:T p.(Arg47His) NC_000011.10:67522632:C:T p.(Arg47His) NC_000011.10:67522632:C:T Identity +NM_001031681.3:c.487G>A NP_001026851.2:p.Val163Met NC_000017.11:3656511:G:A p.(Val163Met) NC_000017.11:3656511:G:A p.(Val163Met) NC_000017.11:3656511:G:A Identity +NM_000493.4:c.592C>T NP_000484.2:p.Arg198Cys NC_000006.12:116121523:G:A p.(Arg198Cys) NC_000006.12:116121523:G:A p.(Arg198Cys) NC_000006.12:116121523:G:A Identity +NM_022095.4:c.329G>T NP_071378.1:p.Ser110Ile NC_000020.11:45969563:C:A p.(Ser110Ile) NC_000020.11:45969563:C:A p.(Ser110Ile) NC_000020.11:45969563:C:A Identity +NM_005560.6:c.5269G>A NP_005551.3:p.Val1757Ile NC_000020.11:62326705:C:T p.(Val1757Ile) NC_000020.11:62326705:C:T p.(Val1757Ile) NC_000020.11:62326705:C:T Identity +NM_022168.4:c.1151G>A NP_071451.2:p.Trp384Ter NC_000002.12:162282520:C:T p.(Trp384Ter) NC_000002.12:162282520:C:T p.(Trp384Ter) NC_000002.12:162282520:C:T Identity +NM_006734.4:c.3122C>T NP_006725.3:p.Ala1041Val NC_000006.12:142771616:G:A p.(Ala1041Val) NC_000006.12:142771616:G:A p.(Ala1041Val) NC_000006.12:142771616:G:A Identity +NM_000051.4:c.3963G>T NP_000042.3:p.Met1321Ile NC_000011.10:108284442:G:T p.(Met1321Ile) NC_000011.10:108284442:G:T p.(Met1321Ile) NC_000011.10:108284442:G:T Identity +NM_001127617.2:c.506A>G NP_001121089.1:p.Asn169Ser NC_000016.10:30068943:A:G p.(Asn169Ser) NC_000016.10:30068943:A:G p.(Asn169Ser) NC_000016.10:30068943:A:G Identity +NM_001127328.3:c.38T>C NP_001120800.1:p.Leu13Ser NC_000001.11:75728395:T:C p.(Leu13Ser) NC_000001.11:75728395:T:C p.(Leu13Ser) NC_000001.11:75728395:T:C Identity +NM_000878.5:c.1405C>T NP_000869.1:p.Pro469Ser NC_000022.11:37128346:G:A p.(Pro469Ser) NC_000022.11:37128346:G:A p.(Pro469Ser) NC_000022.11:37128346:G:A Identity +NM_000356.4:c.1549C>T NP_000347.2:p.Pro517Ser NC_000005.10:150375795:C:T p.(Pro517Ser) NC_000005.10:150375795:C:T p.(Pro517Ser) NC_000005.10:150375795:C:T Identity +NM_001145472.3:c.2213_2214delinsCT NP_001138944.1:p.Asp738Ala NC_000018.10:46507682:GT:AG p.(Asp738Ala) NC_000018.10:46507682:GT:AG p.(Asp738Ala) NC_000018.10:46507682:GT:AG Identity +NM_080679.3:c.2096G>A NP_542410.2:p.Arg699His NC_000006.12:33174539:C:T p.(Arg699His) NC_000006.12:33174539:C:T p.(Arg699His) NC_000006.12:33174539:C:T Identity +NM_000076.2:c.828C>T NP_000067.1:p.Phe276= NC_000011.10:2884126:G:A p.(Phe276=) NC_000011.10:2884126:G:A p.(Phe276=) NC_000011.10:2884126:G:A Identity +NM_001288607.2:c.2430C>G NP_001275536.1:p.Asp810Glu NC_000001.11:150558636:C:G p.(Asp810Glu) NC_000001.11:150558636:C:G p.(Asp810Glu) NC_000001.11:150558636:C:G Identity +NM_001371591.2:c.1358A>G NP_001358520.1:p.Gln453Arg NC_000004.12:127921515:T:C p.(Gln453Arg) NC_000004.12:127921515:T:C p.(Gln453Arg) NC_000004.12:127921515:T:C Identity +NM_001039141.3:c.1964G>A NP_001034230.1:p.Arg655Gln NC_000022.11:37724519:G:A p.(Arg655Gln) NC_000022.11:37724519:G:A p.(Arg655Gln) NC_000022.11:37724519:G:A Identity +NM_152424.4:c.1592G>A NP_689637.3:p.Arg531Gln NC_000023.11:64191694:C:T p.(Arg531Gln) NC_000023.11:64191694:C:T p.(Arg531Gln) NC_000023.11:64191694:C:T Identity +NM_001142805.2:c.1511G>A NP_001136277.1:p.Arg504Gln NC_000023.11:153694577:G:A p.(Arg504Gln) NC_000023.11:153694577:G:A p.(Arg504Gln) NC_000023.11:153694577:G:A Identity +NM_024795.4:c.83T>C NP_079071.2:p.Ile28Thr NC_000002.12:227379185:A:G p.(Ile28Thr) NC_000002.12:227379185:A:G p.(Ile28Thr) NC_000002.12:227379185:A:G Identity +NM_001184891.2:c.1204T>C NP_001171820.1:p.Cys402Arg NC_000001.11:154990468:T:C p.(Cys402Arg) NC_000001.11:154990468:T:C p.(Cys402Arg) NC_000001.11:154990468:T:C Identity +NM_016653.3:c.758T>C NP_057737.2:p.Phe253Ser NC_000002.12:173209741:T:C p.(Phe253Ser) NC_000002.12:173209741:T:C p.(Phe253Ser) NC_000002.12:173209741:T:C Identity +NM_032130.3:c.638C>T NP_115506.1:p.Thr213Met NC_000012.12:49601001:G:A p.(Thr213Met) NC_000012.12:49601001:G:A p.(Thr213Met) NC_000012.12:49601001:G:A Identity +NM_001077653.2:c.187G>A NP_001071121.1:p.Ala63Thr NC_000007.14:35250143:C:T p.(Ala63Thr) NC_000007.14:35250143:C:T p.(Ala63Thr) NC_000007.14:35250143:C:T Identity +NM_001303496.3:c.1372G>T NP_001290425.1:p.Ala458Ser NC_000007.14:93134599:C:A p.(Ala458Ser) NC_000007.14:93134599:C:A p.(Ala458Ser) NC_000007.14:93134599:C:A Identity +NM_144606.7:c.884T>C NP_653207.1:p.Val295Ala NC_000017.11:17221523:A:G p.(Val295Ala) NC_000017.11:17221523:A:G p.(Val295Ala) NC_000017.11:17221523:A:G Identity +NM_001220.5:c.1553C>T NP_001211.3:p.Pro518Leu NC_000007.14:44226559:G:A p.(Pro518Leu) NC_000007.14:44226559:G:A p.(Pro518Leu) NC_000007.14:44226559:G:A Identity +NM_177400.3:c.439AAG[2] NP_796374.2:p.Lys149del NC_000010.11:132785411:CTTCTTCTTC:CTTCTTC p.(Lys149del) NC_000010.11:132785419:T:CTTCTT ERR:Parse ERR:Parse Identity +NM_001349655.2:c.896G>A NP_001336584.1:p.Arg299Gln NC_000013.11:72827098:G:A p.(Arg299Gln) NC_000013.11:72827098:G:A p.(Arg299Gln) NC_000013.11:72827098:G:A Identity +NM_001258446.1:c.718G>T NP_001245375.1:p.Val240Leu NC_000008.11:143321334:C:A p.(Val240Leu) NC_000008.11:143321334:C:A p.(Val240Leu) NC_000008.11:143321334:C:A Identity +NM_130444.3:c.662C>T NP_569711.2:p.Ser221Phe NC_000021.9:45456191:C:T p.(Ser221Phe) NC_000021.9:45456191:C:T p.(Ser221Phe) NC_000021.9:45456191:C:T Identity +NM_005655.4:c.30G>C NP_005646.1:p.Gln10His NC_000008.11:102655571:C:G p.(Gln10His) NC_000008.11:102655571:C:G p.(Gln10His) NC_000008.11:102655571:C:G Identity +NM_001873.4:c.1177A>G NP_001864.1:p.Ile393Val NC_000004.12:165493233:A:G p.(Ile393Val) NC_000004.12:165493233:A:G p.(Ile393Val) NC_000004.12:165493233:A:G Identity +NM_013262.4:c.604A>C NP_037394.2:p.Ile202Leu NC_000006.12:16143158:A:C p.(Ile202Leu) NC_000006.12:16143158:A:C p.(Ile202Leu) NC_000006.12:16143158:A:C Identity +NM_000718.4:c.6738G>C NP_000709.1:p.Gln2246His NC_000009.12:138121716:G:C p.(Gln2246His) NC_000009.12:138121716:G:C p.(Gln2246His) NC_000009.12:138121716:G:C Identity +NM_014510.3:c.6989G>A NP_055325.2:p.Arg2330Gln NC_000007.14:82953963:C:T p.(Arg2330Gln) NC_000007.14:82953963:C:T p.(Arg2330Gln) NC_000007.14:82953963:C:T Identity +NM_000721.4:c.2758C>T NP_000712.2:p.Arg920Cys NC_000001.11:181732843:C:T p.(Arg920Cys) NC_000001.11:181732843:C:T p.(Arg920Cys) NC_000001.11:181732843:C:T Identity +NM_000721.4:c.4351A>G NP_000712.2:p.Ile1451Val NC_000001.11:181757967:A:G p.(Ile1451Val) NC_000001.11:181757967:A:G p.(Ile1451Val) NC_000001.11:181757967:A:G Identity +NM_001282750.2:c.206C>T NP_001269679.1:p.Pro69Leu NC_000001.11:172555896:C:T p.(Pro69Leu) NC_000001.11:172555896:C:T p.(Pro69Leu) NC_000001.11:172555896:C:T Identity +NM_002049.4:c.212A>C NP_002040.1:p.His71Pro NC_000023.11:48791320:A:C p.(His71Pro) NC_000023.11:48791320:A:C p.(His71Pro) NC_000023.11:48791320:A:C Identity +NM_001290185.2:c.2761C>T NP_001277114.1:p.Arg921Cys NC_000011.10:119081587:C:T p.(Arg921Cys) NC_000011.10:119081587:C:T p.(Arg921Cys) NC_000011.10:119081587:C:T Identity +NM_001326411.2:c.923C>T NP_001313340.1:p.Thr308Met NC_000022.11:31620634:G:A p.(Thr308Met) NC_000022.11:31620634:G:A p.(Thr308Met) NC_000022.11:31620634:G:A Identity +NM_005876.5:c.6695C>G NP_005867.3:p.Pro2232Arg NC_000002.12:219484157:C:G p.(Pro2232Arg) NC_000002.12:219484157:C:G p.(Pro2232Arg) NC_000002.12:219484157:C:G Identity +NM_001160036.2:c.1088G>A NP_001153508.1:p.Arg363Gln NC_000008.11:23007266:G:A p.(Arg363Gln) NC_000008.11:23007266:G:A p.(Arg363Gln) NC_000008.11:23007266:G:A Identity +NM_030665.4:c.5170C>T NP_109590.3:p.Arg1724Trp NC_000017.11:17798117:C:T p.(Arg1724Trp) NC_000017.11:17798117:C:T p.(Arg1724Trp) NC_000017.11:17798117:C:T Identity +NM_001142763.2:c.5713_5716dup NP_001136235.1:p.Met1906fs NC_000010.11:53822030:TGTT:TGTTTGTT p.(Met1906LysfsTer34) NC_000010.11:53822030:TGTT:TGTTTGTT p.(Met1906LysfsTer34) ERR:SPDI Analogous +NM_001408.3:c.8641C>T NP_001399.1:p.Arg2881Cys NC_000001.11:109273566:C:T p.(Arg2881Cys) NC_000001.11:109273566:C:T p.(Arg2881Cys) NC_000001.11:109273566:C:T Identity +NM_004975.4:c.1343T>C NP_004966.1:p.Met448Thr NC_000020.11:49374216:A:G p.(Met448Thr) NC_000020.11:49374216:A:G p.(Met448Thr) NC_000020.11:49374216:A:G Identity +NM_000834.5:c.998A>G NP_000825.2:p.Asn333Ser NC_000012.12:13753328:T:C p.(Asn333Ser) NC_000012.12:13753328:T:C p.(Asn333Ser) NC_000012.12:13753328:T:C Identity +NM_000495.5:c.1330A>G NP_000486.1:p.Ile444Val NC_000023.11:108591221:A:G p.(Ile444Val) NC_000023.11:108591221:A:G p.(Ile444Val) NC_000023.11:108591221:A:G Identity +NM_170606.3:c.5456T>C NP_733751.2:p.Met1819Thr NC_000007.14:152182403:A:G p.(Met1819Thr) NC_000007.14:152182403:A:G p.(Met1819Thr) NC_000007.14:152182403:A:G Identity +NM_000052.7:c.506G>A NP_000043.4:p.Gly169Asp NC_000023.11:77988626:G:A p.(Gly169Asp) NC_000023.11:77988626:G:A p.(Gly169Asp) NC_000023.11:77988626:G:A Identity +NM_001330311.2:c.511G>A NP_001317240.1:p.Val171Met NC_000001.11:1341760:C:T p.(Val171Met) NC_000001.11:1341760:C:T p.(Val171Met) NC_000001.11:1341760:C:T Identity +NM_016653.3:c.2293G>A NP_057737.2:p.Glu765Lys NC_000002.12:173266639:G:A p.(Glu765Lys) NC_000002.12:173266639:G:A p.(Glu765Lys) NC_000002.12:173266639:G:A Identity +NM_001197104.2:c.4777C>A NP_001184033.1:p.Arg1593Ser NC_000011.10:118491275:C:A p.(Arg1593Ser) NC_000011.10:118491275:C:A p.(Arg1593Ser) NC_000011.10:118491275:C:A Identity +NM_001010938.2:c.2368C>T NP_001010938.2:p.Arg790Cys NC_000003.12:195868001:G:A p.(Arg790Cys) NC_000003.12:195868001:G:A p.(Arg790Cys) NC_000003.12:195868001:G:A Identity +NM_000346.4:c.287A>G NP_000337.1:p.Asn96Ser NC_000017.11:72121677:A:G p.(Asn96Ser) NC_000017.11:72121677:A:G p.(Asn96Ser) NC_000017.11:72121677:A:G Identity +NM_001350626.2:c.166G>C NP_001337555.1:p.Val56Leu NC_000007.14:2547439:C:G p.(Val56Leu) NC_000007.14:2547439:C:G p.(Val56Leu) NC_000007.14:2547439:C:G Identity +NM_020928.2:c.557C>T NP_065979.1:p.Ala186Val NC_000005.10:61332828:C:T p.(Ala186Val) NC_000005.10:61332828:C:T p.(Ala186Val) NC_000005.10:61332828:C:T Identity +NM_138801.3:c.983G>A NP_620156.1:p.Gly328Asp NC_000002.12:38733518:G:A p.(Gly328Asp) NC_000002.12:38733518:G:A p.(Gly328Asp) NC_000002.12:38733518:G:A Identity +NM_000091.5:c.2309T>C NP_000082.2:p.Ile770Thr NC_000002.12:227280524:T:C p.(Ile770Thr) NC_000002.12:227280524:T:C p.(Ile770Thr) NC_000002.12:227280524:T:C Identity +NM_000163.5:c.995A>G NP_000154.1:p.Tyr332Cys NC_000005.10:42718501:A:G p.(Tyr332Cys) NC_000005.10:42718501:A:G p.(Tyr332Cys) NC_000005.10:42718501:A:G Identity +NM_000350.3:c.1268_1269inv NP_000341.2:p.His423Arg NC_000001.11:94078676:GT:AC p.(His423Arg) NC_000001.11:94078676:GT:AC p.(His423Arg) ERR:SPDI Identity +NM_001077690.1:c.1741G>T NP_001071158.1:p.Val581Phe NC_000011.10:111786491:C:A p.(Val581Phe) NC_000011.10:111786491:C:A p.(Val581Phe) NC_000011.10:111786491:C:A Identity +NM_030665.4:c.2711T>A NP_109590.3:p.Val904Glu NC_000017.11:17795658:T:A p.(Val904Glu) NC_000017.11:17795658:T:A p.(Val904Glu) NC_000017.11:17795658:T:A Identity +NM_001378120.1:c.1406A>C NP_001365049.1:p.His469Pro NC_000002.12:148469348:A:C p.(His469Pro) NC_000002.12:148469348:A:C p.(His469Pro) NC_000002.12:148469348:A:C Identity +NM_014510.3:c.2159C>T NP_055325.2:p.Ala720Val NC_000007.14:83135390:G:A p.(Ala720Val) NC_000007.14:83135390:G:A p.(Ala720Val) NC_000007.14:83135390:G:A Identity +NM_005120.3:c.2119G>A NP_005111.2:p.Glu707Lys NC_000023.11:71125038:G:A p.(Glu707Lys) NC_000023.11:71125038:G:A p.(Glu707Lys) NC_000023.11:71125038:G:A Identity +NM_001199642.1:c.1261G>A NP_001186571.1:p.Val421Ile NC_000003.12:123318062:C:T p.(Val421Ile) NC_000003.12:123318062:C:T p.(Val421Ile) NC_000003.12:123318062:C:T Identity +NM_002381.5:c.916G>C NP_002372.1:p.Ala306Pro NC_000002.12:20003160:C:G p.(Ala306Pro) NC_000002.12:20003160:C:G p.(Ala306Pro) NC_000002.12:20003160:C:G Identity +NM_014727.3:c.1043A>C NP_055542.1:p.Gln348Pro NC_000019.10:35720389:A:C p.(Gln348Pro) NC_000019.10:35720389:A:C p.(Gln348Pro) NC_000019.10:35720389:A:C Identity +NM_001378285.1:c.479A>G NP_001365214.1:p.Asp160Gly NC_000003.12:149902140:A:G p.(Asp160Gly) NC_000003.12:149902140:A:G p.(Asp160Gly) NC_000003.12:149902140:A:G Identity +NM_001256714.1:c.1325G>A NP_001243643.1:p.Cys442Tyr NC_000019.10:55159937:C:T p.(Cys442Tyr) NC_000019.10:55159937:C:T p.(Cys442Tyr) NC_000019.10:55159937:C:T Identity +NM_001308006.2:c.332C>T NP_001294935.1:p.Thr111Ile NC_000018.10:49567493:C:T p.(Thr111Ile) NC_000018.10:49567493:C:T p.(Thr111Ile) NC_000018.10:49567493:C:T Identity +NM_031935.3:c.3626G>T NP_114141.2:p.Ser1209Ile NC_000001.11:185994934:G:T p.(Ser1209Ile) NC_000001.11:185994934:G:T p.(Ser1209Ile) NC_000001.11:185994934:G:T Identity +NM_138817.3:c.707CAA[1] NP_620172.2:p.Thr237del NC_000008.11:86223076:TTGTTGTT:TTGTT p.(Thr237del) NC_000008.11:86223081:G:TTG ERR:Parse ERR:Parse Identity +NM_001006600.3:c.3197T>C NP_001006600.1:p.Ile1066Thr NC_000005.10:66054514:T:C p.(Ile1066Thr) NC_000005.10:66054514:T:C p.(Ile1066Thr) NC_000005.10:66054514:T:C Identity +NM_001069.3:c.1063G>T NP_001060.1:p.Asp355Tyr NC_000006.12:3154137:C:A p.(Asp355Tyr) NC_000006.12:3154137:C:A p.(Asp355Tyr) NC_000006.12:3154137:C:A Identity +NM_000273.3:c.281G>C NP_000264.2:p.Gly94Ala NC_000023.11:9760795:C:G p.(Gly94Ala) NC_000023.11:9760795:C:G p.(Gly94Ala) NC_000023.11:9760795:C:G Identity +NM_139318.5:c.224A>G NP_647479.2:p.Lys75Arg NC_000014.9:63006445:T:C p.(Lys75Arg) NC_000014.9:63006445:T:C p.(Lys75Arg) NC_000014.9:63006445:T:C Identity +NM_005502.4:c.3515A>G NP_005493.2:p.Glu1172Gly NC_000009.12:104817351:T:C p.(Glu1172Gly) NC_000009.12:104817351:T:C p.(Glu1172Gly) NC_000009.12:104817351:T:C Identity +NM_001354263.2:c.2758G>T NP_001341192.1:p.Ala920Ser NC_000009.12:137811526:G:T p.(Ala920Ser) NC_000009.12:137811526:G:T p.(Ala920Ser) NC_000009.12:137811526:G:T Identity +NM_001324301.2:c.1642G>A NP_001311230.1:p.Glu548Lys NC_000020.11:37232307:G:A p.(Glu548Lys) NC_000020.11:37232307:G:A p.(Glu548Lys) NC_000020.11:37232307:G:A Identity +NM_000425.5:c.1162G>A NP_000416.1:p.Ala388Thr NC_000023.11:153869624:C:T p.(Ala388Thr) NC_000023.11:153869624:C:T p.(Ala388Thr) NC_000023.11:153869624:C:T Identity +NM_001466.4:c.538C>T NP_001457.1:p.Pro180Ser NC_000017.11:44558225:C:T p.(Pro180Ser) NC_000017.11:44558225:C:T p.(Pro180Ser) NC_000017.11:44558225:C:T Identity +NM_001321431.2:c.6719T>C NP_001308360.1:p.Met2240Thr NC_000019.10:8087111:A:G p.(Met2240Thr) NC_000019.10:8087111:A:G p.(Met2240Thr) NC_000019.10:8087111:A:G Identity +NM_001206836.2:c.460C>T NP_001193765.1:p.Arg154Ter NC_000015.10:65887743:C:T p.(Arg154Ter) NC_000015.10:65887743:C:T p.(Arg154Ter) NC_000015.10:65887743:C:T Identity +NM_006739.4:c.2132T>C NP_006730.2:p.Val711Ala NC_000022.11:35424181:T:C p.(Val711Ala) NC_000022.11:35424181:T:C p.(Val711Ala) NC_000022.11:35424181:T:C Identity +NM_000275.3:c.500G>A NP_000266.2:p.Arg167His NC_000015.10:28027885:C:T p.(Arg167His) NC_000015.10:28027885:C:T p.(Arg167His) NC_000015.10:28027885:C:T Identity +NM_000832.7:c.700G>A NP_000823.4:p.Ala234Thr NC_000009.12:137156696:G:A p.(Ala234Thr) NC_000009.12:137156696:G:A p.(Ala234Thr) NC_000009.12:137156696:G:A Identity +NM_001135639.2:c.8G>A NP_001129111.1:p.Gly3Asp NC_000016.10:57967278:C:T p.(Gly3Asp) NC_000016.10:57967278:C:T p.(Gly3Asp) NC_000016.10:57967278:C:T Identity +NM_001384714.1:c.88C>G NP_001371643.1:p.Leu30Val NC_000008.11:11853366:G:C p.(Leu30Val) NC_000008.11:11853366:G:C p.(Leu30Val) NC_000008.11:11853366:G:C Identity +NM_001321431.2:c.7436A>G NP_001308360.1:p.His2479Arg NC_000019.10:8081019:T:C p.(His2479Arg) NC_000019.10:8081019:T:C p.(His2479Arg) NC_000019.10:8081019:T:C Identity +NM_030665.4:c.5398G>T NP_109590.3:p.Asp1800Tyr NC_000017.11:17798345:G:T p.(Asp1800Tyr) NC_000017.11:17798345:G:T p.(Asp1800Tyr) NC_000017.11:17798345:G:T Identity +NM_000291.4:c.552G>C NP_000282.1:p.Lys184Asn NC_000023.11:78118080:G:C p.(Lys184Asn) NC_000023.11:78118080:G:C p.(Lys184Asn) NC_000023.11:78118080:G:C Identity +NM_001145468.4:c.2003C>T NP_001138940.4:p.Thr668Met NC_000022.11:24324283:C:T p.(Thr668Met) NC_000022.11:24324283:C:T p.(Thr668Met) NC_000022.11:24324283:C:T Identity +NM_005458.8:c.1336G>A NP_005449.5:p.Ala446Thr NC_000009.12:98394216:C:T p.(Ala446Thr) NC_000009.12:98394216:C:T p.(Ala446Thr) NC_000009.12:98394216:C:T Identity +NM_016941.4:c.616C>T NP_058637.1:p.Pro206Ser NC_000019.10:39503020:C:T p.(Pro206Ser) NC_000019.10:39503020:C:T p.(Pro206Ser) NC_000019.10:39503020:C:T Identity +NM_001271995.2:c.1135G>A NP_001258924.1:p.Glu379Lys NC_000019.10:4171720:G:A p.(Glu379Lys) NC_000019.10:4171720:G:A p.(Glu379Lys) NC_000019.10:4171720:G:A Identity +NM_007129.5:c.692ACC[8] NP_009060.2:p.His239del NC_000013.11:99982753:CCACCACCACCACCACCACCACCACCACC:CCACCACCACCACCACCACCACCACC p.(His239del) NC_000013.11:99982755:A:ACCACCACCACCACCACCACCACC ERR:Parse ERR:Parse Identity +NM_014510.3:c.3743T>C NP_055325.2:p.Leu1248Pro NC_000007.14:82966044:A:G p.(Leu1248Pro) NC_000007.14:82966044:A:G p.(Leu1248Pro) NC_000007.14:82966044:A:G Identity +NM_001384714.1:c.59G>C NP_001371643.1:p.Arg20Thr NC_000008.11:11853395:C:G p.(Arg20Thr) NC_000008.11:11853395:C:G p.(Arg20Thr) NC_000008.11:11853395:C:G Identity +NM_001166133.2:c.1982C>T NP_001159605.1:p.Ala661Val NC_000004.12:78318830:C:T p.(Ala661Val) NC_000004.12:78318830:C:T p.(Ala661Val) NC_000004.12:78318830:C:T Identity +NM_001270507.2:c.361G>A NP_001257436.1:p.Val121Ile NC_000006.12:137874909:G:A p.(Val121Ile) NC_000006.12:137874909:G:A p.(Val121Ile) NC_000006.12:137874909:G:A Identity +NM_001130518.2:c.377C>T NP_001123990.1:p.Ser126Leu NC_000008.11:19505457:G:A p.(Ser126Leu) NC_000008.11:19505457:G:A p.(Ser126Leu) NC_000008.11:19505457:G:A Identity +NM_000545.8:c.34C>T NP_000536.6:p.Leu12Phe NC_000012.12:120978801:C:T p.(Leu12Phe) NC_000012.12:120978801:C:T p.(Leu12Phe) NC_000012.12:120978801:C:T Identity +NM_015425.6:c.4909G>A NP_056240.2:p.Asp1637Asn NC_000002.12:86028037:C:T p.(Asp1637Asn) NC_000002.12:86028037:C:T p.(Asp1637Asn) NC_000002.12:86028037:C:T Identity +NM_001408.3:c.7876C>T NP_001399.1:p.Arg2626Cys NC_000001.11:109271671:C:T p.(Arg2626Cys) NC_000001.11:109271671:C:T p.(Arg2626Cys) NC_000001.11:109271671:C:T Identity +NM_001042440.5:c.802A>C NP_001035905.1:p.Ile268Leu NC_000005.10:96741271:A:C p.(Ile268Leu) NC_000005.10:96741271:A:C p.(Ile268Leu) NC_000005.10:96741271:A:C Identity +NM_001010938.2:c.1813G>C NP_001010938.2:p.Ala605Pro NC_000003.12:195868556:C:G p.(Ala605Pro) NC_000003.12:195868556:C:G p.(Ala605Pro) NC_000003.12:195868556:C:G Identity +NM_001172567.2:c.394G>A NP_001166038.2:p.Ala132Thr NC_000003.12:38139928:G:A p.(Ala132Thr) NC_000003.12:38139928:G:A p.(Ala132Thr) NC_000003.12:38139928:G:A Identity +NM_001164097.2:c.3127G>T NP_001157569.1:p.Val1043Leu NC_000005.10:83539090:G:T p.(Val1043Leu) NC_000005.10:83539090:G:T p.(Val1043Leu) NC_000005.10:83539090:G:T Identity +NM_000526.5:c.188G>A NP_000517.3:p.Cys63Tyr NC_000017.11:41586646:C:T p.(Cys63Tyr) NC_000017.11:41586646:C:T p.(Cys63Tyr) NC_000017.11:41586646:C:T Identity +NM_000500.9:c.373C>T NP_000491.4:p.Arg125Cys NC_000006.12:32039173:C:T p.(Arg125Cys) NC_000006.12:32039173:C:T p.(Arg125Cys) NC_000006.12:32039173:C:T Identity +NM_001243254.2:c.1567C>T NP_001230183.1:p.Arg523Cys NC_000011.10:9178961:G:A p.(Arg523Cys) NC_000011.10:9178961:G:A p.(Arg523Cys) NC_000011.10:9178961:G:A Identity +NM_004501.3:c.1262C>G NP_004492.2:p.Ala421Gly NC_000001.11:244858185:G:C p.(Ala421Gly) NC_000001.11:244858185:G:C p.(Ala421Gly) NC_000001.11:244858185:G:C Identity +NM_000257.4:c.1048T>A NP_000248.2:p.Tyr350Asn NC_000014.9:23429864:A:T p.(Tyr350Asn) NC_000014.9:23429864:A:T p.(Tyr350Asn) NC_000014.9:23429864:A:T Identity +NM_001378287.1:c.50C>T NP_001365216.1:p.Thr17Ile NC_000003.12:149895567:C:T p.(Thr17Ile) NC_000003.12:149895567:C:T p.(Thr17Ile) NC_000003.12:149895567:C:T Identity +NM_007317.3:c.167G>A NP_015556.1:p.Gly56Glu NC_000016.10:29796988:G:A p.(Gly56Glu) NC_000016.10:29796988:G:A p.(Gly56Glu) NC_000016.10:29796988:G:A Identity +NM_024306.5:c.451A>G NP_077282.3:p.Arg151Gly NC_000016.10:74727298:T:C p.(Arg151Gly) NC_000016.10:74727298:T:C p.(Arg151Gly) NC_000016.10:74727298:T:C Identity +NM_001304815.2:c.2599G>A NP_001291744.1:p.Val867Met NC_000019.10:42274381:G:A p.(Val867Met) NC_000019.10:42274381:G:A p.(Val867Met) NC_000019.10:42274381:G:A Identity +NM_001348729.2:c.2129G>A NP_001335658.1:p.Arg710His NC_000002.12:8785843:C:T p.(Arg710His) NC_000002.12:8785843:C:T p.(Arg710His) NC_000002.12:8785843:C:T Identity +NM_020754.4:c.1903G>A NP_065805.2:p.Glu635Lys NC_000003.12:119409752:G:A p.(Glu635Lys) NC_000003.12:119409752:G:A p.(Glu635Lys) NC_000003.12:119409752:G:A Identity +NM_001282782.2:c.807C>T NP_001269711.1:p.Ile269= NC_000022.11:46356888:C:T p.(Ile269=) NC_000022.11:46356888:C:T p.(Ile269=) NC_000022.11:46356888:C:T Identity +NM_001282426.2:c.2944del NP_001269355.1:p.Arg982fs NC_000007.14:106886205:A: p.(Arg982GlufsTer6) NC_000007.14:106886205:A: p.(Arg982GlufsTer6) NC_000007.14:106886205:A: Analogous +NM_001282426.2:c.3254A>G NP_001269355.1:p.Asn1085Ser NC_000007.14:106905331:A:G p.(Asn1085Ser) NC_000007.14:106905331:A:G p.(Asn1085Ser) NC_000007.14:106905331:A:G Identity +NM_001256627.2:c.767C>T NP_001243556.1:p.Ala256Val NC_000011.10:1443621:C:T p.(Ala256Val) NC_000011.10:1443621:C:T p.(Ala256Val) NC_000011.10:1443621:C:T Identity +NM_006946.4:c.2209G>A NP_008877.2:p.Glu737Lys NC_000011.10:66705066:C:T p.(Glu737Lys) NC_000011.10:66705066:C:T p.(Glu737Lys) NC_000011.10:66705066:C:T Identity +LRG_1116t1:c.719C>A LRG_1116p1:p.Pro240Gln NC_000013.11:110207463:G:T ERR:Data provider error: ValueError: Transcript LRG_1116t1 not found ERR:Data provider error: ValueError: Transcript LRG_1116t1 not found ERR:AlignmentMapper(tx_ac=LRG_1116t1, alt_ac=LRG_1116t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1116t1, alt_ac=LRG_1116t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1116t1 not found +NM_001352253.3:c.617A>C NP_001339182.1:p.Lys206Thr NC_000013.11:110683088:T:G p.(Lys206Thr) NC_000013.11:110683088:T:G p.(Lys206Thr) NC_000013.11:110683088:T:G Identity +NM_152657.4:c.416_437del NP_689870.3:p.Leu139fs NC_000019.10:38386824:GGCGGCGGCTTCAGCGGGCGGAGGC:GGC p.(Leu139ArgfsTer8) NC_000019.10:38386824:GGCGGCGGCTTCAGCGGGCGGAGGC:GGC p.(Leu139ArgfsTer8) NC_000019.10:38386824:GGCGGCGGCTTCAGCGGGCGGA: Analogous +NM_001005407.2:c.4632C>A NP_001005407.1:p.Phe1544Leu NC_000016.10:1212010:C:A p.(Phe1544Leu) NC_000016.10:1212010:C:A p.(Phe1544Leu) NC_000016.10:1212010:C:A Identity +NM_006208.3:c.1499A>C NP_006199.2:p.His500Pro NC_000006.12:131872983:A:C p.(His500Pro) NC_000006.12:131872983:A:C p.(His500Pro) NC_000006.12:131872983:A:C Identity +NM_001845.6:c.4204G>A NP_001836.3:p.Gly1402Ser NC_000013.11:110163507:C:T p.(Gly1402Ser) NC_000013.11:110163507:C:T p.(Gly1402Ser) NC_000013.11:110163507:C:T Identity +NM_005559.4:c.3919C>T NP_005550.2:p.Arg1307Ter NC_000018.10:7009320:G:A p.(Arg1307Ter) NC_000018.10:7009320:G:A p.(Arg1307Ter) NC_000018.10:7009320:G:A Identity +NM_001098398.2:c.2294C>T NP_001091868.1:p.Ser765Phe NC_000001.11:160296145:G:A p.(Ser765Phe) NC_000001.11:160296145:G:A p.(Ser765Phe) NC_000001.11:160296145:G:A Identity +NM_001347997.2:c.890C>G NP_001334926.1:p.Thr297Ser NC_000009.12:106924801:C:G p.(Thr297Ser) NC_000009.12:106924801:C:G p.(Thr297Ser) NC_000009.12:106924801:C:G Identity +NM_005445.4:c.1343dup NP_005436.1:p.Glu449fs NC_000010.11:110589641:T:TT p.(Glu449ArgfsTer13) NC_000010.11:110589641:T:TT p.(Glu449ArgfsTer13) ERR:SPDI Analogous +NM_001258392.3:c.1768C>T NP_001245321.1:p.Arg590Cys NC_000011.10:72294038:G:A p.(Arg590Cys) NC_000011.10:72294038:G:A p.(Arg590Cys) NC_000011.10:72294038:G:A Identity +NM_020223.4:c.1094G>A NP_064608.2:p.Gly365Asp NC_000007.14:255869:G:A p.(Gly365Asp) NC_000007.14:255869:G:A p.(Gly365Asp) NC_000007.14:255869:G:A Identity +NM_007248.5:c.602G>T NP_009179.2:p.Arg201Ile NC_000003.12:48467286:G:T p.(Arg201Ile) NC_000003.12:48467286:G:T p.(Arg201Ile) NC_000003.12:48467286:G:T Identity +NM_033071.5:c.20042A>G NP_149062.2:p.Asp6681Gly NC_000006.12:152236247:T:C p.(Asp6681Gly) NC_000006.12:152236247:T:C p.(Asp6681Gly) NC_000006.12:152236247:T:C Identity +NM_001284214.2:c.776C>T NP_001271143.1:p.Pro259Leu NC_000002.12:229859022:G:A p.(Pro259Leu) NC_000002.12:229859022:G:A p.(Pro259Leu) NC_000002.12:229859022:G:A Identity +NM_000826.6:c.1742G>A NP_000817.5:p.Arg581Lys NC_000004.12:157336644:G:A p.(Arg581Lys) NC_000004.12:157336644:G:A p.(Arg581Lys) NC_000004.12:157336644:G:A Identity +NM_006929.5:c.1255T>C NP_008860.4:p.Trp419Arg NC_000006.12:31962756:T:C p.(Trp419Arg) NC_000006.12:31962756:T:C p.(Trp419Arg) NC_000006.12:31962756:T:C Identity +NM_001160036.2:c.913A>C NP_001153508.1:p.Ile305Leu NC_000008.11:23007091:A:C p.(Ile305Leu) NC_000008.11:23007091:A:C p.(Ile305Leu) NC_000008.11:23007091:A:C Identity +NM_001142864.4:c.7092C>A NP_001136336.2:p.Asn2364Lys NC_000016.10:88716234:G:T p.(Asn2364Lys) NC_000016.10:88716234:G:T p.(Asn2364Lys) NC_000016.10:88716234:G:T Identity +NM_001206974.2:c.948G>A NP_001193903.1:p.Lys316= NC_000019.10:12675873:C:T p.(Lys316=) NC_000019.10:12675873:C:T p.(Lys316=) NC_000019.10:12675873:C:T Identity +NM_004553.6:c.32_33dup NP_004544.1:p.Asn12Ter NC_000005.10:1801448:TG:TGTG p.(Asn12Ter) NC_000005.10:1801448:TG:TGTG p.(Asn12Ter) ERR:SPDI Identity +NM_001024858.4:c.85G>T NP_001020029.1:p.Glu29Ter NC_000014.9:64823009:C:A p.(Glu29Ter) NC_000014.9:64823009:C:A p.(Glu29Ter) NC_000014.9:64823009:C:A Identity +NM_000802.3:c.621_622delinsT NP_000793.1:p.Arg208fs NC_000011.10:72196023:CC:T p.(Arg208AlafsTer26) NC_000011.10:72196023:CC:T p.(Arg208AlafsTer26) NC_000011.10:72196023:CC:T Analogous +NM_000463.3:c.492_493del NP_000454.1:p.Leu166fs NC_000002.12:233760777:TGT:T p.(Leu166AlafsTer16) NC_000002.12:233760777:TGT:T p.(Leu166AlafsTer16) NC_000002.12:233760778:GT: Analogous +NM_170606.3:c.5404C>T NP_733751.2:p.Pro1802Ser NC_000007.14:152182455:G:A p.(Pro1802Ser) NC_000007.14:152182455:G:A p.(Pro1802Ser) NC_000007.14:152182455:G:A Identity +NM_025237.3:c.499T>C NP_079513.1:p.Cys167Arg NC_000017.11:43755484:A:G p.(Cys167Arg) NC_000017.11:43755484:A:G p.(Cys167Arg) NC_000017.11:43755484:A:G Identity +NM_002317.7:c.664A>G NP_002308.2:p.Ile222Val NC_000005.10:122076968:T:C p.(Ile222Val) NC_000005.10:122076968:T:C p.(Ile222Val) NC_000005.10:122076968:T:C Identity +NM_021224.6:c.5531_5544del NP_067047.4:p.Leu1844fs NC_000009.12:106929440:GCTCCCATTCCGCTGC:GC p.(Leu1844HisfsTer9) NC_000009.12:106929440:GCTCCCATTCCGCTGC:GC p.(Leu1844HisfsTer9) NC_000009.12:106929442:TCCCATTCCGCTGC: Analogous +NM_000088.4:c.2758G>A NP_000079.2:p.Gly920Ser NC_000017.11:50189447:C:T p.(Gly920Ser) NC_000017.11:50189447:C:T p.(Gly920Ser) NC_000017.11:50189447:C:T Identity +NM_002226.5:c.2930T>C NP_002217.3:p.Phe977Ser NC_000014.9:105145752:A:G p.(Phe977Ser) NC_000014.9:105145752:A:G p.(Phe977Ser) NC_000014.9:105145752:A:G Identity +NM_000389.5:c.154G>C NP_000380.1:p.Asp52His NC_000006.12:36684254:G:C p.(Asp52His) NC_000006.12:36684254:G:C p.(Asp52His) NC_000006.12:36684254:G:C Identity +NM_001347839.2:c.3938A>C NP_001334768.1:p.Gln1313Pro NC_000012.12:45852060:A:C p.(Gln1313Pro) NC_000012.12:45852060:A:C p.(Gln1313Pro) NC_000012.12:45852060:A:C Identity +NM_001194998.2:c.4136C>A NP_001181927.1:p.Ser1379Ter NC_000015.10:48739245:G:T p.(Ser1379Ter) NC_000015.10:48739245:G:T p.(Ser1379Ter) NC_000015.10:48739245:G:T Identity +NM_000337.6:c.289C>T NP_000328.2:p.Arg97Ter NC_000005.10:156508696:C:T p.(Arg97Ter) NC_000005.10:156508696:C:T p.(Arg97Ter) NC_000005.10:156508696:C:T Identity +NM_001166418.2:c.229A>G NP_001159890.1:p.Lys77Glu NC_000023.11:72495203:T:C p.(Lys77Glu) NC_000023.11:72495203:T:C p.(Lys77Glu) NC_000023.11:72495203:T:C Identity +NM_003126.4:c.1700T>C NP_003117.2:p.Leu567Pro NC_000001.11:158669540:A:G p.(Leu567Pro) NC_000001.11:158669540:A:G p.(Leu567Pro) NC_000001.11:158669540:A:G Identity +NM_001999.4:c.5614G>A NP_001990.2:p.Gly1872Ser NC_000005.10:128305570:C:T p.(Gly1872Ser) NC_000005.10:128305570:C:T p.(Gly1872Ser) NC_000005.10:128305570:C:T Identity +NM_017617.5:c.4834G>A NP_060087.3:p.Gly1612Ser NC_000009.12:136504856:C:T p.(Gly1612Ser) NC_000009.12:136504856:C:T p.(Gly1612Ser) NC_000009.12:136504856:C:T Identity +NM_001256850.1:c.75641C>G NP_001243779.1:p.Ala25214Gly NC_000002.12:178565567:G:C p.(Ala25214Gly) NC_000002.12:178565567:G:C p.(Ala25214Gly) NC_000002.12:178565567:G:C Identity +NM_001256850.1:c.13637G>T NP_001243779.1:p.Gly4546Val NC_000002.12:178735857:C:A p.(Gly4546Val) NC_000002.12:178735857:C:A p.(Gly4546Val) NC_000002.12:178735857:C:A Identity +NM_000492.4:c.3851A>G NP_000483.3:p.Lys1284Arg NC_000007.14:117642570:A:G p.(Lys1284Arg) NC_000007.14:117642570:A:G p.(Lys1284Arg) NC_000007.14:117642570:A:G Identity +NM_024747.6:c.229_232del NP_079023.2:p.Ser77fs NC_000010.11:102065699:CCCTCCC:CCC p.(Ser77ArgfsTer149) NC_000010.11:102065699:CCCTCCC:CCC p.(Ser77ArgfsTer149) NC_000010.11:102065702:TCCC: Analogous +NM_001282415.2:c.68C>A NP_001269344.1:p.Ser23Ter NC_000016.10:3090183:G:T p.(Ser23Ter) NC_000016.10:3090183:G:T p.(Ser23Ter) NC_000016.10:3090183:G:T Identity +NM_000545.8:c.206del NP_000536.6:p.Gly69fs NC_000012.12:120978970:GGGG:GGG p.(Gly69AlafsTer86) NC_000012.12:120978970:GGGG:GGG p.(Gly69AlafsTer86) NC_000012.12:120978973:G: Analogous +NM_000110.4:c.1280T>C NP_000101.2:p.Val427Ala NC_000001.11:97573818:A:G p.(Val427Ala) NC_000001.11:97573818:A:G p.(Val427Ala) NC_000001.11:97573818:A:G Identity +NM_030773.4:c.1036C>T NP_110400.1:p.Pro346Ser NC_000020.11:59024462:C:T p.(Pro346Ser) NC_000020.11:59024462:C:T p.(Pro346Ser) NC_000020.11:59024462:C:T Identity +NM_001136031.3:c.1277C>T NP_001129503.2:p.Pro426Leu NC_000003.12:11348027:C:T p.(Pro426Leu) NC_000003.12:11348027:C:T p.(Pro426Leu) NC_000003.12:11348027:C:T Identity +NM_001256850.1:c.97631T>A NP_001243779.1:p.Ile32544Asn NC_000002.12:178534060:A:T p.(Ile32544Asn) NC_000002.12:178534060:A:T p.(Ile32544Asn) NC_000002.12:178534060:A:T Identity +NM_000484.4:c.185G>A NP_000475.1:p.Cys62Tyr NC_000021.9:26112018:C:T p.(Cys62Tyr) NC_000021.9:26112018:C:T p.(Cys62Tyr) NC_000021.9:26112018:C:T Identity +NM_019112.4:c.1426A>C NP_061985.2:p.Thr476Pro NC_000019.10:1045211:A:C p.(Thr476Pro) NC_000019.10:1045211:A:C p.(Thr476Pro) NC_000019.10:1045211:A:C Identity +NM_000237.3:c.985T>C NP_000228.1:p.Tyr329His NC_000008.11:19956049:T:C p.(Tyr329His) NC_000008.11:19956049:T:C p.(Tyr329His) NC_000008.11:19956049:T:C Identity +NM_000492.4:c.4033G>A NP_000483.3:p.Val1345Ile NC_000007.14:117664756:G:A p.(Val1345Ile) NC_000007.14:117664756:G:A p.(Val1345Ile) NC_000007.14:117664756:G:A Identity +NM_001114978.2:c.53A>G NP_001108450.1:p.Tyr18Cys NC_000003.12:189631567:A:G p.(Tyr18Cys) NC_000003.12:189631567:A:G p.(Tyr18Cys) NC_000003.12:189631567:A:G Identity +NM_001257408.2:c.1385C>G NP_001244337.1:p.Ser462Trp NC_000017.11:39765832:G:C p.(Ser462Trp) NC_000017.11:39765832:G:C p.(Ser462Trp) NC_000017.11:39765832:G:C Identity +NM_000257.4:c.4022_4031del NP_000248.2:p.Asp1341fs NC_000014.9:23418347:CGCAGCAGGTCGCAG:CGCAG p.(Asp1341GlyfsTer85) NC_000014.9:23418347:CGCAGCAGGTCGCAG:CGCAG p.(Asp1341GlyfsTer85) NC_000014.9:23418347:CGCAGCAGGT: Analogous +NM_001256850.1:c.5318G>C NP_001243779.1:p.Gly1773Ala NC_000002.12:178776545:C:G p.(Gly1773Ala) NC_000002.12:178776545:C:G p.(Gly1773Ala) NC_000002.12:178776545:C:G Identity +NM_001042517.2:c.1066G>C NP_001035982.1:p.Asp356His NC_000013.11:59992531:C:G p.(Asp356His) NC_000013.11:59992531:C:G p.(Asp356His) NC_000013.11:59992531:C:G Identity +NM_001130916.3:c.514T>G NP_001124388.1:p.Tyr172Asp NC_000009.12:99138028:T:G p.(Tyr172Asp) NC_000009.12:99138028:T:G p.(Tyr172Asp) NC_000009.12:99138028:T:G Identity +NM_001352500.2:c.797del NP_001339429.1:p.Gly266fs NC_000013.11:49551382:CCC:CC p.(Gly266GlufsTer9) NC_000013.11:49551382:CCC:CC p.(Gly266GlufsTer9) NC_000013.11:49551382:C: Analogous +NM_001040712.2:c.3872A>G NP_001035802.1:p.Asn1291Ser NC_000009.12:8341113:T:C p.(Asn1291Ser) NC_000009.12:8341113:T:C p.(Asn1291Ser) NC_000009.12:8341113:T:C Identity +NM_000719.7:c.4102G>T NP_000710.5:p.Val1368Leu NC_000012.12:2653861:G:T p.(Val1368Leu) NC_000012.12:2653861:G:T p.(Val1368Leu) NC_000012.12:2653861:G:T Identity +NM_001257137.3:c.1571A>G NP_001244066.1:p.Tyr524Cys NC_000020.11:34470070:A:G p.(Tyr524Cys) NC_000020.11:34470070:A:G p.(Tyr524Cys) NC_000020.11:34470070:A:G Identity +NM_000335.5:c.4948A>T NP_000326.2:p.Met1650Leu NC_000003.12:38551420:T:A p.(Met1650Leu) NC_000003.12:38551420:T:A p.(Met1650Leu) NC_000003.12:38551420:T:A Identity +NM_000257.4:c.4232del NP_000248.2:p.Cys1411fs NC_000014.9:23417623:C: p.(Cys1411SerfsTer18) NC_000014.9:23417623:C: p.(Cys1411SerfsTer18) NC_000014.9:23417623:C: Analogous +NM_001290253.2:c.157_184del NP_001277182.1:p.Pro53fs NC_000007.14:154052966:GGCGGCGGCGCCCCGGGAGCGCGGCGGCGGCGGCGGCG:GGCGGCGGCG p.(Pro53AlafsTer35) NC_000007.14:154052966:GGCGGCGGCGCCCCGGGAGCGCGGCGGCGGCGGCGGCG:GGCGGCGGCG p.(Pro53AlafsTer35) NC_000007.14:154052976:CCCCGGGAGCGCGGCGGCGGCGGCGGCG: Analogous +NM_001300899.2:c.1960C>A NP_001287828.1:p.Leu654Ile NC_000006.12:75870661:C:A p.(Leu654Ile) NC_000006.12:75870661:C:A p.(Leu654Ile) NC_000006.12:75870661:C:A Identity +NM_000218.3:c.293G>C NP_000209.2:p.Arg98Pro NC_000011.10:2445390:G:C p.(Arg98Pro) NC_000011.10:2445390:G:C p.(Arg98Pro) NC_000011.10:2445390:G:C Identity +NM_001256850.1:c.13927T>C NP_001243779.1:p.Cys4643Arg NC_000002.12:178735567:A:G p.(Cys4643Arg) NC_000002.12:178735567:A:G p.(Cys4643Arg) NC_000002.12:178735567:A:G Identity +NM_033118.4:c.1080dup NP_149109.1:p.Tyr361fs NC_000020.11:31826711:G:GG p.(Tyr361ValfsTer14) NC_000020.11:31826711:G:GG p.(Tyr361ValfsTer14) ERR:SPDI Analogous +NM_001256850.1:c.24053C>A NP_001243779.1:p.Ser8018Ter NC_000002.12:178718001:G:T p.(Ser8018Ter) NC_000002.12:178718001:G:T p.(Ser8018Ter) NC_000002.12:178718001:G:T Identity +NM_000393.5:c.2570C>T NP_000384.2:p.Pro857Leu NC_000002.12:189053001:G:A p.(Pro857Leu) NC_000002.12:189053001:G:A p.(Pro857Leu) NC_000002.12:189053001:G:A Identity +NM_003098.3:c.1420G>A NP_003089.1:p.Glu474Lys NC_000020.11:33408705:C:T p.(Glu474Lys) NC_000020.11:33408705:C:T p.(Glu474Lys) NC_000020.11:33408705:C:T Identity +NM_001301012.2:c.1633G>C NP_001287941.1:p.Val545Leu NC_000006.12:133525070:G:C p.(Val545Leu) NC_000006.12:133525070:G:C p.(Val545Leu) NC_000006.12:133525070:G:C Identity +NM_001099856.6:c.1177AAG[1] NP_001093326.2:p.Lys394del NC_000023.11:154563616:AGAAGAAG:AGAAG p.(Lys394del) NC_000023.11:154563618:A:AAG ERR:Parse ERR:Parse Identity +NM_001999.4:c.7138G>C NP_001990.2:p.Asp2380His NC_000005.10:128280191:C:G p.(Asp2380His) NC_000005.10:128280191:C:G p.(Asp2380His) NC_000005.10:128280191:C:G Identity +NM_003280.3:c.313G>C NP_003271.1:p.Asp105His NC_000003.12:52451747:C:G p.(Asp105His) NC_000003.12:52451747:C:G p.(Asp105His) NC_000003.12:52451747:C:G Identity +NM_000069.3:c.5441T>C NP_000060.2:p.Leu1814Pro NC_000001.11:201040011:A:G p.(Leu1814Pro) NC_000001.11:201040011:A:G p.(Leu1814Pro) NC_000001.11:201040011:A:G Identity +NM_004699.4:c.401A>G NP_004690.1:p.Glu134Gly NC_000023.11:154446518:A:G p.(Glu134Gly) NC_000023.11:154446518:A:G p.(Glu134Gly) NC_000023.11:154446518:A:G Identity +NM_001114978.2:c.176G>C NP_001108450.1:p.Trp59Ser NC_000003.12:189737852:G:C p.(Trp59Ser) NC_000003.12:189737852:G:C p.(Trp59Ser) NC_000003.12:189737852:G:C Identity +NM_019112.4:c.2326G>T NP_061985.2:p.Gly776Ter NC_000019.10:1048950:G:T p.(Gly776Ter) NC_000019.10:1048950:G:T p.(Gly776Ter) NC_000019.10:1048950:G:T Identity +NM_001077186.2:c.3358G>A NP_001070654.1:p.Ala1120Thr NC_000019.10:50272720:G:A p.(Ala1120Thr) NC_000019.10:50272720:G:A p.(Ala1120Thr) NC_000019.10:50272720:G:A Identity +NM_001198915.2:c.2213del NP_001185844.1:p.Tyr738fs NC_000012.12:27689171:A: p.(Tyr738LeufsTer4) NC_000012.12:27689171:A: p.(Tyr738LeufsTer4) NC_000012.12:27689171:A: Analogous +NM_000525.4:c.521C>A NP_000516.3:p.Ala174Asp NC_000011.10:17387570:G:T p.(Ala174Asp) NC_000011.10:17387570:G:T p.(Ala174Asp) NC_000011.10:17387570:G:T Identity +NM_001079846.1:c.5596C>T NP_001073315.1:p.Gln1866Ter NC_000016.10:3729336:G:A p.(Gln1866Ter) NC_000016.10:3729336:G:A p.(Gln1866Ter) NC_000016.10:3729336:G:A Identity +NM_001363626.2:c.103G>C NP_001350555.1:p.Ala35Pro NC_000005.10:174724761:G:C p.(Ala35Pro) NC_000005.10:174724761:G:C p.(Ala35Pro) NC_000005.10:174724761:G:C Identity +NM_001206524.2:c.1365del NP_001193453.1:p.Leu455fs NC_000002.12:201217737:A: p.(Leu455PhefsTer18) NC_000002.12:201217737:A: p.(Leu455PhefsTer18) NC_000002.12:201217737:A: Analogous +NM_000264.5:c.1119C>G NP_000255.2:p.Tyr373Ter NC_000009.12:95479095:G:C p.(Tyr373Ter) NC_000009.12:95479095:G:C p.(Tyr373Ter) NC_000009.12:95479095:G:C Identity +NM_001293306.2:c.2450G>A NP_001280235.2:p.Arg817Gln NC_000003.12:38728731:C:T p.(Arg817Gln) NC_000003.12:38728731:C:T p.(Arg817Gln) NC_000003.12:38728731:C:T Identity +NM_000175.5:c.1039C>T NP_000166.2:p.Arg347Cys NC_000019.10:34394042:C:T p.(Arg347Cys) NC_000019.10:34394042:C:T p.(Arg347Cys) NC_000019.10:34394042:C:T Identity +NM_001081.4:c.7003C>T NP_001072.2:p.Gln2335Ter NC_000010.11:16916027:G:A p.(Gln2335Ter) NC_000010.11:16916027:G:A p.(Gln2335Ter) NC_000010.11:16916027:G:A Identity +NM_000334.4:c.5285G>A NP_000325.4:p.Gly1762Glu NC_000017.11:63940996:C:T p.(Gly1762Glu) NC_000017.11:63940996:C:T p.(Gly1762Glu) NC_000017.11:63940996:C:T Identity +NM_000162.5:c.751A>G NP_000153.1:p.Met251Val NC_000007.14:44147761:T:C p.(Met251Val) NC_000007.14:44147761:T:C p.(Met251Val) NC_000007.14:44147761:T:C Identity +NM_178857.6:c.2380G>T NP_849188.4:p.Glu794Ter NC_000008.11:10611717:C:A p.(Glu794Ter) NC_000008.11:10611717:C:A p.(Glu794Ter) NC_000008.11:10611717:C:A Identity +NM_001256850.1:c.87839_87842del NP_001243779.1:p.Thr29280fs NC_000002.12:178548860:GCTG: p.(Thr29280IlefsTer4) NC_000002.12:178548860:GCTG: p.(Thr29280IlefsTer4) NC_000002.12:178548860:GCTG: Analogous +NM_001313726.2:c.3089G>A NP_001300655.1:p.Arg1030Gln NC_000011.10:26660403:G:A p.(Arg1030Gln) NC_000011.10:26660403:G:A p.(Arg1030Gln) NC_000011.10:26660403:G:A Identity +NM_005035.4:c.1855G>A NP_005026.3:p.Gly619Ser NC_000019.10:621842:C:T p.(Gly619Ser) NC_000019.10:621842:C:T p.(Gly619Ser) NC_000019.10:621842:C:T Identity +NM_001379051.1:c.875C>G NP_001365980.1:p.Thr292Arg NC_000022.11:36564378:G:C p.(Thr292Arg) NC_000022.11:36564378:G:C p.(Thr292Arg) NC_000022.11:36564378:G:C Identity +NM_001197104.2:c.7990del NP_001184033.1:p.Ala2664fs NC_000011.10:118503881:G: p.(Ala2664LeufsTer11) NC_000011.10:118503881:G: p.(Ala2664LeufsTer11) NC_000011.10:118503881:G: Analogous +NM_001110792.2:c.1072A>C NP_001104262.1:p.Ser358Arg NC_000023.11:154030791:T:G p.(Ser358Arg) NC_000023.11:154030791:T:G p.(Ser358Arg) NC_000023.11:154030791:T:G Identity +NM_003036.4:c.106G>C NP_003027.1:p.Ala36Pro NC_000001.11:2228871:G:C p.(Ala36Pro) NC_000001.11:2228871:G:C p.(Ala36Pro) NC_000001.11:2228871:G:C Identity +NM_000142.5:c.1498G>A NP_000133.1:p.Ala500Thr NC_000004.12:1805439:G:A p.(Ala500Thr) NC_000004.12:1805439:G:A p.(Ala500Thr) NC_000004.12:1805439:G:A Identity +NM_001018115.3:c.2963T>C NP_001018125.1:p.Val988Ala NC_000003.12:10078183:T:C p.(Val988Ala) NC_000003.12:10078183:T:C p.(Val988Ala) NC_000003.12:10078183:T:C Identity +NM_000162.5:c.1079C>A NP_000153.1:p.Ser360Ter NC_000007.14:44145670:G:T p.(Ser360Ter) NC_000007.14:44145670:G:T p.(Ser360Ter) NC_000007.14:44145670:G:T Identity +NM_000525.4:c.661C>T NP_000516.3:p.Arg221Cys NC_000011.10:17387430:G:A p.(Arg221Cys) NC_000011.10:17387430:G:A p.(Arg221Cys) NC_000011.10:17387430:G:A Identity +NM_170606.3:c.10207C>T NP_733751.2:p.Arg3403Cys NC_000007.14:152163369:G:A p.(Arg3403Cys) NC_000007.14:152163369:G:A p.(Arg3403Cys) NC_000007.14:152163369:G:A Identity +NM_001350234.2:c.2761A>C NP_001337163.1:p.Lys921Gln NC_000001.11:9724320:A:C p.(Lys921Gln) NC_000001.11:9724320:A:C p.(Lys921Gln) NC_000001.11:9724320:A:C Identity +NM_001324255.2:c.4633A>G NP_001311184.1:p.Thr1545Ala NC_000005.10:72198365:A:G p.(Thr1545Ala) NC_000005.10:72198365:A:G p.(Thr1545Ala) NC_000005.10:72198365:A:G Identity +NM_001363910.2:c.2215del NP_001350839.1:p.Asp739fs NC_000002.12:209694393:GGGG:GGG p.(Asp739MetfsTer19) NC_000002.12:209694393:GGGG:GGG p.(Asp739MetfsTer19) NC_000002.12:209694396:G: Analogous +NM_001146702.2:c.12dup NP_001140174.1:p.Ser5fs NC_000023.11:53224877:CCCC:CCCCC p.(Ser5ValfsTer16) NC_000023.11:53224877:CCCC:CCCCC p.(Ser5ValfsTer16) ERR:SPDI Analogous +NM_001079872.2:c.1157T>C NP_001073341.1:p.Leu386Ser NC_000023.11:120544129:A:G p.(Leu386Ser) NC_000023.11:120544129:A:G p.(Leu386Ser) NC_000023.11:120544129:A:G Identity +NM_001363260.1:c.151C>T NP_001350189.1:p.Leu51Phe NC_000008.11:95269038:G:A p.(Leu51Phe) NC_000008.11:95269038:G:A p.(Leu51Phe) NC_000008.11:95269038:G:A Identity +NM_052844.4:c.1363T>C NP_443076.2:p.Ser455Pro NC_000009.12:128634234:A:G p.(Ser455Pro) NC_000009.12:128634234:A:G p.(Ser455Pro) NC_000009.12:128634234:A:G Identity +NM_001321214.2:c.338G>C NP_001308143.1:p.Gly113Ala NC_000017.11:19347786:C:G p.(Gly113Ala) NC_000017.11:19347786:C:G p.(Gly113Ala) NC_000017.11:19347786:C:G Identity +NM_000478.6:c.705G>T NP_000469.3:p.Glu235Asp NC_000001.11:21568159:G:T p.(Glu235Asp) NC_000001.11:21568159:G:T p.(Glu235Asp) NC_000001.11:21568159:G:T Identity +NM_020702.5:c.1991C>T NP_065753.2:p.Pro664Leu NC_000009.12:34370952:G:A p.(Pro664Leu) NC_000009.12:34370952:G:A p.(Pro664Leu) NC_000009.12:34370952:G:A Identity +NM_001330347.2:c.586A>C NP_001317276.1:p.Lys196Gln NC_000011.10:94476361:T:G p.(Lys196Gln) NC_000011.10:94476361:T:G p.(Lys196Gln) NC_000011.10:94476361:T:G Identity +NM_002887.4:c.946C>T NP_002878.2:p.Arg316Cys NC_000005.10:168500713:C:T p.(Arg316Cys) NC_000005.10:168500713:C:T p.(Arg316Cys) NC_000005.10:168500713:C:T Identity +NM_001367258.1:c.447G>C NP_001354187.1:p.Leu149Phe NC_000005.10:139477470:C:G p.(Leu149Phe) NC_000005.10:139477470:C:G p.(Leu149Phe) NC_000005.10:139477470:C:G Identity +NM_001258040.3:c.1065G>C NP_001244969.1:p.Gln355His NC_000005.10:140676662:C:G p.(Gln355His) NC_000005.10:140676662:C:G p.(Gln355His) NC_000005.10:140676662:C:G Identity +NM_001258040.3:c.248A>C NP_001244969.1:p.Glu83Ala NC_000005.10:140679815:T:G p.(Glu83Ala) NC_000005.10:140679815:T:G p.(Glu83Ala) NC_000005.10:140679815:T:G Identity +NM_002887.4:c.1939A>G NP_002878.2:p.Lys647Glu NC_000005.10:168519145:A:G p.(Lys647Glu) NC_000005.10:168519145:A:G p.(Lys647Glu) NC_000005.10:168519145:A:G Identity +NM_004446.3:c.3763G>A NP_004437.2:p.Val1255Ile NC_000001.11:219979563:C:T p.(Val1255Ile) NC_000001.11:219979563:C:T p.(Val1255Ile) NC_000001.11:219979563:C:T Identity +NM_001363260.1:c.82G>A NP_001350189.1:p.Glu28Lys NC_000008.11:95269107:C:T p.(Glu28Lys) NC_000008.11:95269107:C:T p.(Glu28Lys) NC_000008.11:95269107:C:T Identity +NM_001143905.2:c.486T>A NP_001137377.1:p.Ser162Arg NC_000012.12:123257015:T:A p.(Ser162Arg) NC_000012.12:123257015:T:A p.(Ser162Arg) NC_000012.12:123257015:T:A Identity +NM_001302653.2:c.263A>G NP_001289582.2:p.Gln88Arg NC_000014.9:103571761:A:G p.(Gln88Arg) NC_000014.9:103571761:A:G p.(Gln88Arg) NC_000014.9:103571761:A:G Identity +NM_000173.7:c.499G>T NP_000164.5:p.Glu167Ter NC_000017.11:4933102:G:T p.(Glu167Ter) NC_000017.11:4933102:G:T p.(Glu167Ter) NC_000017.11:4933102:G:T Identity +NM_001364113.3:c.5240G>C NP_001351042.1:p.Arg1747Thr NC_000005.10:98856536:C:G p.(Arg1747Thr) NC_000005.10:98856536:C:G p.(Arg1747Thr) NC_000005.10:98856536:C:G Identity +NM_001101417.4:c.304A>G NP_001094887.1:p.Met102Val NC_000007.14:16406290:T:C p.(Met102Val) NC_000007.14:16406290:T:C p.(Met102Val) NC_000007.14:16406290:T:C Identity +NM_004446.3:c.4300_4301delinsTT NP_004437.2:p.Gln1434Leu NC_000001.11:219972090:TG:AA p.(Gln1434Leu) NC_000001.11:219972090:TG:AA p.(Gln1434Leu) NC_000001.11:219972090:TG:AA Identity +NM_052844.4:c.289G>A NP_443076.2:p.Val97Met NC_000009.12:128640836:C:T p.(Val97Met) NC_000009.12:128640836:C:T p.(Val97Met) NC_000009.12:128640836:C:T Identity +NM_001290020.2:c.2908C>A NP_001276949.1:p.Arg970Ser NC_000010.11:27860737:G:T p.(Arg970Ser) NC_000010.11:27860737:G:T p.(Arg970Ser) NC_000010.11:27860737:G:T Identity +NM_001330347.2:c.464G>T NP_001317276.1:p.Arg155Leu NC_000011.10:94478814:C:A p.(Arg155Leu) NC_000011.10:94478814:C:A p.(Arg155Leu) NC_000011.10:94478814:C:A Identity +NM_001605.3:c.2227G>A NP_001596.2:p.Glu743Lys NC_000016.10:70255786:C:T p.(Glu743Lys) NC_000016.10:70255786:C:T p.(Glu743Lys) NC_000016.10:70255786:C:T Identity +NM_001605.3:c.761A>C NP_001596.2:p.Lys254Thr NC_000016.10:70270250:T:G p.(Lys254Thr) NC_000016.10:70270250:T:G p.(Lys254Thr) NC_000016.10:70270250:T:G Identity +NM_000151.4:c.365G>T NP_000142.2:p.Gly122Val NC_000017.11:42907546:G:T p.(Gly122Val) NC_000017.11:42907546:G:T p.(Gly122Val) NC_000017.11:42907546:G:T Identity +NM_001316772.1:c.2020G>A NP_001303701.1:p.Gly674Arg NC_000007.14:30633821:G:A p.(Gly674Arg) NC_000007.14:30633821:G:A p.(Gly674Arg) NC_000007.14:30633821:G:A Identity +NM_004446.3:c.142T>A NP_004437.2:p.Phe48Ile NC_000001.11:220035002:A:T p.(Phe48Ile) NC_000001.11:220035002:A:T p.(Phe48Ile) NC_000001.11:220035002:A:T Identity +NM_052844.4:c.1132G>A NP_443076.2:p.Val378Met NC_000009.12:128634770:C:T p.(Val378Met) NC_000009.12:128634770:C:T p.(Val378Met) NC_000009.12:128634770:C:T Identity +NM_004990.4:c.1445C>T NP_004981.2:p.Thr482Ile NC_000012.12:57511773:C:T p.(Thr482Ile) NC_000012.12:57511773:C:T p.(Thr482Ile) NC_000012.12:57511773:C:T Identity +NM_001301834.1:c.72C>G NP_001288763.1:p.Ile24Met NC_000012.12:6944494:C:G p.(Ile24Met) NC_000012.12:6944494:C:G p.(Ile24Met) NC_000012.12:6944494:C:G Identity +NM_152328.5:c.529C>T NP_689541.1:p.Arg177Trp NC_000014.9:104740652:C:T p.(Arg177Trp) NC_000014.9:104740652:C:T p.(Arg177Trp) NC_000014.9:104740652:C:T Identity +NM_001302453.1:c.311G>A NP_001289382.1:p.Arg104Lys NC_000019.10:11427011:C:T p.(Arg104Lys) NC_000019.10:11427011:C:T p.(Arg104Lys) NC_000019.10:11427011:C:T Identity +NM_001301738.2:c.233G>C NP_001288667.1:p.Arg78Pro NC_000005.10:139481336:C:G p.(Arg78Pro) NC_000005.10:139481336:C:G p.(Arg78Pro) NC_000005.10:139481336:C:G Identity +NM_001258040.3:c.1328G>A NP_001244969.1:p.Ser443Asn NC_000005.10:140674688:C:T p.(Ser443Asn) NC_000005.10:140674688:C:T p.(Ser443Asn) NC_000005.10:140674688:C:T Identity +NM_002887.4:c.23G>T NP_002878.2:p.Cys8Phe NC_000005.10:168486520:G:T p.(Cys8Phe) NC_000005.10:168486520:G:T p.(Cys8Phe) NC_000005.10:168486520:G:T Identity +NM_002887.4:c.1465G>A NP_002878.2:p.Glu489Lys NC_000005.10:168516789:G:A p.(Glu489Lys) NC_000005.10:168516789:G:A p.(Glu489Lys) NC_000005.10:168516789:G:A Identity +NM_002887.4:c.1492G>A NP_002878.2:p.Val498Ile NC_000005.10:168516816:G:A p.(Val498Ile) NC_000005.10:168516816:G:A p.(Val498Ile) NC_000005.10:168516816:G:A Identity +NM_003880.4:c.622A>T NP_003871.1:p.Lys208Ter NC_000006.12:112068236:A:T p.(Lys208Ter) NC_000006.12:112068236:A:T p.(Lys208Ter) NC_000006.12:112068236:A:T Identity +NM_001286445.3:c.2573C>T NP_001273374.1:p.Ser858Leu NC_000006.12:24828228:G:A p.(Ser858Leu) NC_000006.12:24828228:G:A p.(Ser858Leu) NC_000006.12:24828228:G:A Identity +NM_003680.4:c.620G>A NP_003671.1:p.Arg207Gln NC_000001.11:32791225:C:T p.(Arg207Gln) NC_000001.11:32791225:C:T p.(Arg207Gln) NC_000001.11:32791225:C:T Identity +NM_004990.4:c.303C>G NP_004981.2:p.Tyr101Ter NC_000012.12:57489446:C:G p.(Tyr101Ter) NC_000012.12:57489446:C:G p.(Tyr101Ter) NC_000012.12:57489446:C:G Identity +NM_004990.4:c.1422G>C NP_004981.2:p.Trp474Cys NC_000012.12:57511750:G:C p.(Trp474Cys) NC_000012.12:57511750:G:C p.(Trp474Cys) NC_000012.12:57511750:G:C Identity +NM_001382751.1:c.342C>G NP_001369680.1:p.Ser114Arg NC_000023.11:107841066:C:G p.(Ser114Arg) NC_000023.11:107841066:C:G p.(Ser114Arg) NC_000023.11:107841066:C:G Identity +NM_199165.2:c.92C>T NP_954634.1:p.Ala31Val NC_000014.9:104729983:C:T p.(Ala31Val) NC_000014.9:104729983:C:T p.(Ala31Val) NC_000014.9:104729983:C:T Identity +NM_152328.5:c.433G>C NP_689541.1:p.Asp145His NC_000014.9:104739772:G:C p.(Asp145His) NC_000014.9:104739772:G:C p.(Asp145His) NC_000014.9:104739772:G:C Identity +NM_001320424.1:c.265G>A NP_001307353.1:p.Val89Met NC_000014.9:104741933:G:A p.(Val89Met) NC_000014.9:104741933:G:A p.(Val89Met) NC_000014.9:104741933:G:A Identity +NM_001605.3:c.1792C>T NP_001596.2:p.Arg598Ter NC_000016.10:70259179:G:A p.(Arg598Ter) NC_000016.10:70259179:G:A p.(Arg598Ter) NC_000016.10:70259179:G:A Identity +NM_001605.3:c.1191T>G NP_001596.2:p.Ile397Met NC_000016.10:70267689:A:C p.(Ile397Met) NC_000016.10:70267689:A:C p.(Ile397Met) NC_000016.10:70267689:A:C Identity +NM_001316772.1:c.1234T>C NP_001303701.1:p.Cys412Arg NC_000007.14:30621428:T:C p.(Cys412Arg) NC_000007.14:30621428:T:C p.(Cys412Arg) NC_000007.14:30621428:T:C Identity +NM_001113491.2:c.973C>T NP_001106963.1:p.Arg325Trp NC_000017.11:77487482:C:T p.(Arg325Trp) NC_000017.11:77487482:C:T p.(Arg325Trp) NC_000017.11:77487482:C:T Identity +NM_001033046.4:c.35G>A NP_001028218.1:p.Arg12His NC_000017.11:82449219:C:T p.(Arg12His) NC_000017.11:82449219:C:T p.(Arg12His) NC_000017.11:82449219:C:T Identity +NM_152722.5:c.1153C>T NP_689935.2:p.Pro385Ser NC_000011.10:124921235:G:A p.(Pro385Ser) NC_000011.10:124921235:G:A p.(Pro385Ser) NC_000011.10:124921235:G:A Identity +NM_001145320.2:c.725T>A NP_001138792.1:p.Ile242Asn NC_000009.12:133544511:T:A p.(Ile242Asn) NC_000009.12:133544511:T:A p.(Ile242Asn) NC_000009.12:133544511:T:A Identity +NM_001005463.3:c.1315G>A NP_001005463.1:p.Val439Met NC_000010.11:129842145:C:T p.(Val439Met) NC_000010.11:129842145:C:T p.(Val439Met) NC_000010.11:129842145:C:T Identity +NM_001372044.2:c.3952_3964del NP_001358973.1:p.Gln1318fs NC_000022.11:50721557:TGCAGTCAGCGGCTG:TG p.(Ala1318ValfsTer24) NC_000022.11:50721597:GGCCCAGCCCCCTGG:GG p.(Ala1318ValfsTer24) NC_000022.11:50721598:GCCCAGCCCCCTG: Analogous +NM_001605.3:c.709A>G NP_001596.2:p.Ser237Gly NC_000016.10:70270302:T:C p.(Ser237Gly) NC_000016.10:70270302:T:C p.(Ser237Gly) NC_000016.10:70270302:T:C Identity +NM_000151.4:c.534T>C NP_000142.2:p.Pro178= NC_000017.11:42909389:T:C p.(Pro178=) NC_000017.11:42909389:T:C p.(Pro178=) NC_000017.11:42909389:T:C Identity +NM_001113491.2:c.385C>T NP_001106963.1:p.Arg129Trp NC_000017.11:77402366:C:T p.(Arg129Trp) NC_000017.11:77402366:C:T p.(Arg129Trp) NC_000017.11:77402366:C:T Identity +NM_000047.3:c.987G>A NP_000038.2:p.Met329Ile NC_000023.11:2946001:C:T p.(Met329Ile) NC_000023.11:2946001:C:T p.(Met329Ile) NC_000023.11:2946001:C:T Identity +NM_000047.3:c.74del NP_000038.2:p.Leu25fs NC_000023.11:2958384:AAA:AA p.(Leu25TrpfsTer19) NC_000023.11:2958384:AAA:AA p.(Leu25TrpfsTer19) NC_000023.11:2958384:A: Analogous +NM_001305878.2:c.795C>G NP_001292807.1:p.Cys265Trp NC_000008.11:41981868:G:C p.(Cys265Trp) NC_000008.11:41981868:G:C p.(Cys265Trp) NC_000008.11:41981868:G:C Identity +NM_001300823.2:c.1692_1693del NP_001287752.1:p.His564fs NC_000004.12:120695217:TAT:T p.(His564GlnfsTer14) NC_000004.12:120695217:TAT:T p.(His564GlnfsTer14) NC_000004.12:120695217:TA: Analogous +NM_052844.4:c.1481A>G NP_443076.2:p.Gln494Arg NC_000009.12:128633873:T:C p.(Gln494Arg) NC_000009.12:128633873:T:C p.(Gln494Arg) NC_000009.12:128633873:T:C Identity +NM_052844.4:c.842G>A NP_443076.2:p.Ser281Asn NC_000009.12:128635230:C:T p.(Ser281Asn) NC_000009.12:128635230:C:T p.(Ser281Asn) NC_000009.12:128635230:C:T Identity +NM_052844.4:c.319A>G NP_443076.2:p.Arg107Gly NC_000009.12:128640806:T:C p.(Arg107Gly) NC_000009.12:128640806:T:C p.(Arg107Gly) NC_000009.12:128640806:T:C Identity +NM_052844.4:c.19C>T NP_443076.2:p.Pro7Ser NC_000009.12:128656707:G:A p.(Pro7Ser) NC_000009.12:128656707:G:A p.(Pro7Ser) NC_000009.12:128656707:G:A Identity +NM_020702.5:c.1651C>T NP_065753.2:p.Pro551Ser NC_000009.12:34371292:G:A p.(Pro551Ser) NC_000009.12:34371292:G:A p.(Pro551Ser) NC_000009.12:34371292:G:A Identity +NM_001351527.2:c.5890C>T NP_001338456.1:p.Pro1964Ser NC_000009.12:132296945:G:A p.(Pro1964Ser) NC_000009.12:132296945:G:A p.(Pro1964Ser) NC_000009.12:132296945:G:A Identity +NM_016148.5:c.6037C>T NP_057232.2:p.Pro2013Ser NC_000019.10:50662413:G:A p.(Pro2013Ser) NC_000019.10:50662413:G:A p.(Pro2013Ser) NC_000019.10:50662413:G:A Identity +NM_001302453.1:c.1180G>A NP_001289382.1:p.Ala394Thr NC_000019.10:11422562:C:T p.(Ala394Thr) NC_000019.10:11422562:C:T p.(Ala394Thr) NC_000019.10:11422562:C:T Identity +NM_001364171.2:c.2004dup NP_001351100.1:p.Gly669fs NC_000019.10:48297095:G:GG p.(Gly669ArgfsTer6) NC_000019.10:48297095:G:GG p.(Gly669ArgfsTer6) ERR:SPDI Analogous +NM_001303458.3:c.1189C>T NP_001290387.1:p.Pro397Ser NC_000020.11:43642546:C:T p.(Pro397Ser) NC_000020.11:43642546:C:T p.(Pro397Ser) NC_000020.11:43642546:C:T Identity +NM_004990.4:c.1772A>T NP_004981.2:p.Asp591Val NC_000012.12:57512768:A:T p.(Asp591Val) NC_000012.12:57512768:A:T p.(Asp591Val) NC_000012.12:57512768:A:T Identity +NM_004990.4:c.2153A>G NP_004981.2:p.Tyr718Cys NC_000012.12:57515006:A:G p.(Tyr718Cys) NC_000012.12:57515006:A:G p.(Tyr718Cys) NC_000012.12:57515006:A:G Identity +NM_004990.4:c.2347A>G NP_004981.2:p.Thr783Ala NC_000012.12:57515291:A:G p.(Thr783Ala) NC_000012.12:57515291:A:G p.(Thr783Ala) NC_000012.12:57515291:A:G Identity +NM_004990.4:c.2381A>G NP_004981.2:p.Gln794Arg NC_000012.12:57515325:A:G p.(Gln794Arg) NC_000012.12:57515325:A:G p.(Gln794Arg) NC_000012.12:57515325:A:G Identity +NM_001345864.2:c.2705G>A NP_001332793.1:p.Arg902Lys NC_000002.12:98312030:G:A p.(Arg902Lys) NC_000002.12:98312030:G:A p.(Arg902Lys) NC_000002.12:98312030:G:A Identity +NM_130466.4:c.3014A>C NP_569733.2:p.Gln1005Pro NC_000012.12:109533556:A:C p.(Gln1005Pro) NC_000012.12:109533556:A:C p.(Gln1005Pro) NC_000012.12:109533556:A:C Identity +NM_001317184.2:c.862G>C NP_001304113.1:p.Asp288His NC_000016.10:68811712:G:C p.(Asp288His) NC_000016.10:68811712:G:C p.(Asp288His) NC_000016.10:68811712:G:C Identity +NM_003482.4:c.14923C>T NP_003473.3:p.Arg4975Cys NC_000012.12:49027042:G:A p.(Arg4975Cys) NC_000012.12:49027042:G:A p.(Arg4975Cys) NC_000012.12:49027042:G:A Identity +NM_001282660.2:c.257A>G NP_001269589.1:p.Lys86Arg NC_000022.11:40429649:T:C p.(Lys86Arg) NC_000022.11:40429649:T:C p.(Lys86Arg) NC_000022.11:40429649:T:C Identity +NM_000047.3:c.149T>C NP_000038.2:p.Ile50Thr NC_000023.11:2958309:A:G p.(Ile50Thr) NC_000023.11:2958309:A:G p.(Ile50Thr) NC_000023.11:2958309:A:G Identity +NM_000152.5:c.2051C>A NP_000143.2:p.Pro684Gln NC_000017.11:80113227:C:A p.(Pro684Gln) NC_000017.11:80113227:C:A p.(Pro684Gln) NC_000017.11:80113227:C:A Identity +NM_000019.4:c.253G>T NP_000010.1:p.Glu85Ter NC_000011.10:108134234:G:T p.(Glu85Ter) NC_000011.10:108134234:G:T p.(Glu85Ter) NC_000011.10:108134234:G:T Identity +NM_020754.4:c.2471C>T NP_065805.2:p.Ser824Phe NC_000003.12:119414399:C:T p.(Ser824Phe) NC_000003.12:119414399:C:T p.(Ser824Phe) NC_000003.12:119414399:C:T Identity +NM_001692.4:c.172A>C NP_001683.2:p.Lys58Gln NC_000002.12:70943710:A:C p.(Lys58Gln) NC_000002.12:70943710:A:C p.(Lys58Gln) NC_000002.12:70943710:A:C Identity +NM_000092.5:c.1074G>C NP_000083.3:p.Leu358Phe NC_000002.12:227099644:C:G p.(Leu358Phe) NC_000002.12:227099644:C:G p.(Leu358Phe) NC_000002.12:227099644:C:G Identity +NM_001320424.1:c.94T>C NP_001307353.1:p.Tyr32His NC_000014.9:104741158:T:C p.(Tyr32His) NC_000014.9:104741158:T:C p.(Tyr32His) NC_000014.9:104741158:T:C Identity +NM_001320424.1:c.511G>A NP_001307353.1:p.Gly171Ser NC_000014.9:104744863:G:A p.(Gly171Ser) NC_000014.9:104744863:G:A p.(Gly171Ser) NC_000014.9:104744863:G:A Identity +NM_001605.3:c.1877G>C NP_001596.2:p.Gly626Ala NC_000016.10:70259094:C:G p.(Gly626Ala) NC_000016.10:70259094:C:G p.(Gly626Ala) NC_000016.10:70259094:C:G Identity +NM_001605.3:c.1561A>G NP_001596.2:p.Thr521Ala NC_000016.10:70262455:T:C p.(Thr521Ala) NC_000016.10:70262455:T:C p.(Thr521Ala) NC_000016.10:70262455:T:C Identity +NM_001005271.3:c.1790C>T NP_001005271.2:p.Pro597Leu NC_000017.11:7895447:C:T p.(Pro597Leu) NC_000017.11:7895447:C:T p.(Pro597Leu) NC_000017.11:7895447:C:T Identity +NM_001040439.2:c.1807A>G NP_001035529.1:p.Ser603Gly NC_000016.10:1762935:A:G p.(Ser603Gly) NC_000016.10:1762935:A:G p.(Ser603Gly) NC_000016.10:1762935:A:G Identity +NM_001077494.3:c.453A>G NP_001070962.1:p.Ile151Met NC_000010.11:102397358:A:G p.(Ile151Met) NC_000010.11:102397358:A:G p.(Ile151Met) NC_000010.11:102397358:A:G Identity +NM_001197104.2:c.1512C>A NP_001184033.1:p.Ser504Arg NC_000011.10:118472670:C:A p.(Ser504Arg) NC_000011.10:118472670:C:A p.(Ser504Arg) NC_000011.10:118472670:C:A Identity +NM_002016.2:c.565G>A NP_002007.1:p.Glu189Lys NC_000001.11:152314320:C:T p.(Glu189Lys) NC_000001.11:152314320:C:T p.(Glu189Lys) NC_000001.11:152314320:C:T Identity +NM_001308276.2:c.951del NP_001295205.1:p.Asn317fs NC_000010.11:93797223:C: p.(Asn317LysfsTer21) NC_000010.11:93797223:C: p.(Asn317LysfsTer21) NC_000010.11:93797223:C: Analogous +NM_015001.3:c.7788A>G NP_055816.2:p.Ile2596Met NC_000001.11:15934027:A:G p.(Ile2596Met) NC_000001.11:15934027:A:G p.(Ile2596Met) NC_000001.11:15934027:A:G Identity +NM_001018037.2:c.5570T>C NP_001018047.1:p.Phe1857Ser NC_000009.12:77321602:T:C p.(Phe1857Ser) NC_000009.12:77321602:T:C p.(Phe1857Ser) NC_000009.12:77321602:T:C Identity +NM_000361.3:c.1523C>T NP_000352.1:p.Pro508Leu NC_000020.11:23047981:G:A p.(Pro508Leu) NC_000020.11:23047981:G:A p.(Pro508Leu) NC_000020.11:23047981:G:A Identity +NM_145059.3:c.1567C>T NP_659496.2:p.Arg523Trp NC_000016.10:70473142:C:T p.(Arg523Trp) NC_000016.10:70473142:C:T p.(Arg523Trp) NC_000016.10:70473142:C:T Identity +NM_000151.4:c.820G>A NP_000142.2:p.Ala274Thr NC_000017.11:42911171:G:A p.(Ala274Thr) NC_000017.11:42911171:G:A p.(Ala274Thr) NC_000017.11:42911171:G:A Identity +NM_001113491.2:c.1151A>G NP_001106963.1:p.Asn384Ser NC_000017.11:77488752:A:G p.(Asn384Ser) NC_000017.11:77488752:A:G p.(Asn384Ser) NC_000017.11:77488752:A:G Identity +NM_001199281.1:c.5821G>C NP_001186210.1:p.Val1941Leu NC_000022.11:24171775:G:C p.(Val1941Leu) NC_000022.11:24171775:G:C p.(Val1941Leu) NC_000022.11:24171775:G:C Identity +NM_001101362.3:c.610G>T NP_001094832.1:p.Val204Leu NC_000015.10:65077424:G:T p.(Val204Leu) NC_000015.10:65077424:G:T p.(Val204Leu) NC_000015.10:65077424:G:T Identity +NM_001352017.2:c.601G>A NP_001338946.1:p.Glu201Lys NC_000016.10:870046:C:T p.(Glu201Lys) NC_000016.10:870046:C:T p.(Glu201Lys) NC_000016.10:870046:C:T Identity +NM_001282660.2:c.1564G>A NP_001269589.1:p.Asp522Asn NC_000022.11:40418873:C:T p.(Asp522Asn) NC_000022.11:40418873:C:T p.(Asp522Asn) NC_000022.11:40418873:C:T Identity +NM_001282660.2:c.1462A>T NP_001269589.1:p.Thr488Ser NC_000022.11:40418975:T:A p.(Thr488Ser) NC_000022.11:40418975:T:A p.(Thr488Ser) NC_000022.11:40418975:T:A Identity +NM_000212.3:c.1986dup NP_000203.2:p.Asp663Ter NC_000017.11:47300549:T:TT p.(Asp663Ter) NC_000017.11:47300549:T:TT p.(Asp663Ter) ERR:SPDI Identity +NM_001166055.2:c.932G>C NP_001159527.1:p.Ser311Thr NC_000004.12:147542592:G:C p.(Ser311Thr) NC_000004.12:147542592:G:C p.(Ser311Thr) NC_000004.12:147542592:G:C Identity +NM_001130438.3:c.1502G>A NP_001123910.1:p.Ser501Asn NC_000009.12:128581821:G:A p.(Ser501Asn) NC_000009.12:128581821:G:A p.(Ser501Asn) NC_000009.12:128581821:G:A Identity +NM_001350162.2:c.2574_2577del NP_001337091.1:p.Thr859fs NC_000008.11:30847589:TGTTTGTTT:TGTTT p.(Thr859IlefsTer16) NC_000008.11:30847589:TGTTTGTTT:TGTTT p.(Thr859IlefsTer16) NC_000008.11:30847589:TGTT: Analogous +NM_002473.6:c.3428C>T NP_002464.1:p.Ala1143Val NC_000022.11:36295561:G:A p.(Ala1143Val) NC_000022.11:36295561:G:A p.(Ala1143Val) NC_000022.11:36295561:G:A Identity +NM_000377.3:c.445A>T NP_000368.1:p.Asn149Tyr NC_000023.11:48685817:A:T p.(Asn149Tyr) NC_000023.11:48685817:A:T p.(Asn149Tyr) NC_000023.11:48685817:A:T Identity +NM_003107.3:c.1001C>G NP_003098.1:p.Pro334Arg NC_000006.12:21595534:C:G p.(Pro334Arg) NC_000006.12:21595534:C:G p.(Pro334Arg) NC_000006.12:21595534:C:G Identity +NM_005188.4:c.2246C>T NP_005179.2:p.Thr749Ile NC_000011.10:119297475:C:T p.(Thr749Ile) NC_000011.10:119297475:C:T p.(Thr749Ile) NC_000011.10:119297475:C:T Identity +NM_001243251.2:c.266del NP_001230180.1:p.Asn89fs NC_000011.10:78478449:TTTTTT:TTTTT p.(Asn89ThrfsTer4) NC_000011.10:78478449:TTTTTT:TTTTT p.(Asn89ThrfsTer4) NC_000011.10:78478449:T: Analogous +NM_001110556.2:c.5515C>G NP_001104026.1:p.Leu1839Val NC_000023.11:154354192:G:C p.(Leu1839Val) NC_000023.11:154354192:G:C p.(Leu1839Val) NC_000023.11:154354192:G:C Identity +NM_000527.5:c.52G>C NP_000518.1:p.Ala18Pro NC_000019.10:11089599:G:C p.(Ala18Pro) NC_000019.10:11089599:G:C p.(Ala18Pro) NC_000019.10:11089599:G:C Identity +NM_000237.3:c.248C>T NP_000228.1:p.Thr83Met NC_000008.11:19948338:C:T p.(Thr83Met) NC_000008.11:19948338:C:T p.(Thr83Met) NC_000008.11:19948338:C:T Identity +NM_001407240.1:c.1351G>A NP_001394169.1:p.Glu451Lys NC_000001.11:55058082:G:A p.(Glu451Lys) NC_000001.11:55058082:G:A p.(Glu451Lys) NC_000001.11:55058082:G:A Identity +NM_000184.3:c.62T>C NP_000175.1:p.Val21Ala NC_000011.10:5254666:A:G p.(Val21Ala) NC_000011.10:5254666:A:G p.(Val21Ala) NC_000011.10:5254666:A:G Identity +NM_000531.6:c.77G>T NP_000522.3:p.Arg26Leu NC_000023.11:38352772:G:T p.(Arg26Leu) NC_000023.11:38352772:G:T p.(Arg26Leu) NC_000023.11:38352772:G:T Identity +NM_001365116.2:c.6366T>A NP_001352045.1:p.Tyr2122Ter NC_000003.12:47005228:T:A p.(Tyr2122Ter) NC_000003.12:47005228:T:A p.(Tyr2122Ter) NC_000003.12:47005228:T:A Identity +NM_006231.4:c.4286C>T NP_006222.2:p.Thr1429Ile NC_000012.12:132643840:G:A p.(Thr1429Ile) NC_000012.12:132643840:G:A p.(Thr1429Ile) NC_000012.12:132643840:G:A Identity +NM_178857.6:c.2140C>T NP_849188.4:p.Gln714Ter NC_000008.11:10611957:G:A p.(Gln714Ter) NC_000008.11:10611957:G:A p.(Gln714Ter) NC_000008.11:10611957:G:A Identity +NM_000088.4:c.887G>T NP_000079.2:p.Gly296Val NC_000017.11:50196499:C:A p.(Gly296Val) NC_000017.11:50196499:C:A p.(Gly296Val) NC_000017.11:50196499:C:A Identity +NM_001349243.2:c.178C>T NP_001336172.1:p.Leu60Phe NC_000005.10:58993440:G:A p.(Leu60Phe) NC_000005.10:58993440:G:A p.(Leu60Phe) NC_000005.10:58993440:G:A Identity +NM_001270.4:c.2983A>G NP_001261.2:p.Ile995Val NC_000005.10:98881152:T:C p.(Ile995Val) NC_000005.10:98881152:T:C p.(Ile995Val) NC_000005.10:98881152:T:C Identity +NM_001079668.3:c.789CGG[3] NP_001073136.1:p.Gly271del NC_000014.9:36517683:CCGCCGCCGCCGC:CCGCCGCCGC p.(Gly271del) NC_000014.9:36517694:G:CCGCCGCCG ERR:Parse ERR:Parse Identity +NM_001099952.4:c.3245A>G NP_001093422.2:p.Gln1082Arg NC_000003.12:4683495:A:G p.(Gln1082Arg) NC_000003.12:4683495:A:G p.(Gln1082Arg) NC_000003.12:4683495:A:G Identity +NM_001042517.2:c.2121A>C NP_001035982.1:p.Lys707Asn NC_000013.11:59924823:T:G p.(Lys707Asn) NC_000013.11:59924823:T:G p.(Lys707Asn) NC_000013.11:59924823:T:G Identity +NM_015557.3:c.3953A>G NP_056372.1:p.Asp1318Gly NC_000001.11:6126696:T:C p.(Asp1318Gly) NC_000001.11:6126696:T:C p.(Asp1318Gly) NC_000001.11:6126696:T:C Identity +NM_000552.5:c.4970T>C NP_000543.3:p.Leu1657Pro NC_000012.12:6018447:A:G p.(Leu1657Pro) NC_000012.12:6018447:A:G p.(Leu1657Pro) NC_000012.12:6018447:A:G Identity +NM_001271052.1:c.715C>T NP_001257981.1:p.Arg239Cys NC_000019.10:14765723:G:A p.(Arg239Cys) NC_000019.10:14765723:G:A p.(Arg239Cys) NC_000019.10:14765723:G:A Identity +NM_001256071.3:c.4865C>T NP_001243000.2:p.Ala1622Val NC_000017.11:80339231:C:T p.(Ala1622Val) NC_000017.11:80339231:C:T p.(Ala1622Val) NC_000017.11:80339231:C:T Identity +NM_001256071.3:c.12391C>T NP_001243000.2:p.Arg4131Cys NC_000017.11:80369832:C:T p.(Arg4131Cys) NC_000017.11:80369832:C:T p.(Arg4131Cys) NC_000017.11:80369832:C:T Identity +NM_001164730.2:c.395del NP_001158202.1:p.Gly132fs NC_000002.12:86251999:CCCC:CCC p.(Gly132AlafsTer2) NC_000002.12:86251999:CCCC:CCC p.(Gly132AlafsTer2) NC_000002.12:86251999:C: Analogous +NM_000451.4:c.70G>A NP_000442.1:p.Gly24Arg NC_000024.10:630966:G:A p.(Gly24Arg) NC_000023.11:630966:G:A p.(Gly24Arg) ERR:CDS is undefined for NM_000451.4; this accession appears to be for a non-coding transcript Identity +NM_003907.3:c.889G>A NP_003898.2:p.Gly297Ser NC_000003.12:184140462:G:A p.(Gly297Ser) NC_000003.12:184140462:G:A p.(Gly297Ser) NC_000003.12:184140462:G:A Identity +NM_020988.3:c.620C>T NP_066268.1:p.Ser207Phe NC_000016.10:56336756:C:T p.(Ser207Phe) NC_000016.10:56336756:C:T p.(Ser207Phe) NC_000016.10:56336756:C:T Identity +NM_001146702.2:c.793C>T NP_001140174.1:p.Arg265Ter NC_000023.11:53214816:G:A p.(Arg265Ter) NC_000023.11:53214816:G:A p.(Arg265Ter) NC_000023.11:53214816:G:A Identity +NM_004525.3:c.9230C>T NP_004516.2:p.Pro3077Leu NC_000002.12:169188067:G:A p.(Pro3077Leu) NC_000002.12:169188067:G:A p.(Pro3077Leu) NC_000002.12:169188067:G:A Identity +NM_006236.3:c.774del NP_006227.1:p.Leu259fs NC_000002.12:104856280:GGGG:GGG p.(Leu259TrpfsTer110) NC_000002.12:104856280:GGGG:GGG p.(Leu259TrpfsTer110) NC_000002.12:104856283:G: Analogous +NM_000451.4:c.670G>A NP_000442.1:p.Ala224Thr NC_000024.10:644426:G:A p.(Ala224Thr) NC_000023.11:644426:G:A p.(Ala224Thr) ERR:CDS is undefined for NM_000451.4; this accession appears to be for a non-coding transcript Identity +NM_005094.4:c.1065del NP_005085.2:p.Arg356fs NC_000009.12:128353100:TT:T p.(Arg356AlafsTer4) NC_000009.12:128353100:TT:T p.(Arg356AlafsTer4) NC_000009.12:128353101:T: Analogous +NM_000343.4:c.1496G>C NP_000334.1:p.Arg499Pro NC_000022.11:32102067:G:C p.(Arg499Pro) NC_000022.11:32102067:G:C p.(Arg499Pro) NC_000022.11:32102067:G:C Identity +NM_001271.4:c.2308C>A NP_001262.3:p.Pro770Thr NC_000015.10:92971882:C:A p.(Pro770Thr) NC_000015.10:92971882:C:A p.(Pro770Thr) NC_000015.10:92971882:C:A Identity +NM_000784.4:c.563G>C NP_000775.1:p.Arg188Pro NC_000002.12:218812337:G:C p.(Arg188Pro) NC_000002.12:218812337:G:C p.(Arg188Pro) NC_000002.12:218812337:G:C Identity +NM_018947.6:c.62T>G NP_061820.1:p.Val21Gly NC_000007.14:25124057:A:C p.(Val21Gly) NC_000007.14:25124057:A:C p.(Val21Gly) NC_000007.14:25124057:A:C Identity +NM_001351846.2:c.1825C>T NP_001338775.1:p.Arg609Cys NC_000016.10:1502984:C:T p.(Arg609Cys) NC_000016.10:1502984:C:T p.(Arg609Cys) NC_000016.10:1502984:C:T Identity +LRG_1025t2:c.2213G>C LRG_1025p2:p.Gly738Ala NC_000022.11:42213092:C:G ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1025t2, alt_ac=LRG_1025t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1025t2 not found +NM_000709.4:c.743C>T NP_000700.1:p.Ala248Val NC_000019.10:41422259:C:T p.(Ala248Val) NC_000019.10:41422259:C:T p.(Ala248Val) NC_000019.10:41422259:C:T Identity +NM_006516.4:c.436G>A NP_006507.2:p.Glu146Lys NC_000001.11:42930705:C:T p.(Glu146Lys) NC_000001.11:42930705:C:T p.(Glu146Lys) NC_000001.11:42930705:C:T Identity +NM_001306190.2:c.285_287delinsTTCCA NP_001293119.1:p.Arg96fs NC_000009.12:91356130:CTG:TGGAA p.(Arg96SerfsTer14) NC_000009.12:91356130:CTG:TGGAA p.(Arg96SerfsTer14) NC_000009.12:91356130:CTG:TGGAA Analogous +NM_001300909.2:c.358C>T NP_001287838.1:p.Arg120Cys NC_000011.10:68175133:G:A p.(Arg120Cys) NC_000011.10:68175133:G:A p.(Arg120Cys) NC_000011.10:68175133:G:A Identity +NM_001003694.2:c.1755A>C NP_001003694.1:p.Lys585Asn NC_000003.12:9741339:A:C p.(Lys585Asn) NC_000003.12:9741339:A:C p.(Lys585Asn) NC_000003.12:9741339:A:C Identity +NM_001256850.1:c.46521del NP_001243779.1:p.Asp15508fs NC_000002.12:178609978:A: p.(Asp15508IlefsTer4) NC_000002.12:178609978:A: p.(Asp15508IlefsTer4) NC_000002.12:178609978:A: Analogous +NM_001291860.2:c.1765C>T NP_001278789.1:p.Arg589Cys NC_000001.11:21881394:G:A p.(Arg589Cys) NC_000001.11:21881394:G:A p.(Arg589Cys) NC_000001.11:21881394:G:A Identity +NM_006946.4:c.1370T>C NP_008877.2:p.Leu457Pro NC_000011.10:66707798:A:G p.(Leu457Pro) NC_000011.10:66707798:A:G p.(Leu457Pro) NC_000011.10:66707798:A:G Identity +NM_001080467.3:c.1463T>C NP_001073936.1:p.Ile488Thr NC_000018.10:49962347:A:G p.(Ile488Thr) NC_000018.10:49962347:A:G p.(Ile488Thr) NC_000018.10:49962347:A:G Identity +NM_207163.3:c.1193G>A NP_997046.1:p.Trp398Ter NC_000007.14:123662778:G:A p.(Trp398Ter) NC_000007.14:123662778:G:A p.(Trp398Ter) NC_000007.14:123662778:G:A Identity +NM_001348710.2:c.335C>T NP_001335639.1:p.Ala112Val NC_000006.12:33788781:G:A p.(Ala112Val) NC_000006.12:33788781:G:A p.(Ala112Val) NC_000006.12:33788781:G:A Identity +NM_000400.4:c.851del NP_000391.1:p.Glu284fs NC_000019.10:45364083:T: p.(Glu284GlyfsTer50) NC_000019.10:45364083:T: p.(Glu284GlyfsTer50) NC_000019.10:45364083:T: Analogous +NM_000132.4:c.3836G>A NP_000123.1:p.Arg1279Lys NC_000023.11:154929953:C:T p.(Arg1279Lys) NC_000023.11:154929953:C:T p.(Arg1279Lys) NC_000023.11:154929953:C:T Identity +NM_005687.5:c.460A>G NP_005678.3:p.Arg154Gly NC_000002.12:222634536:T:C p.(Arg154Gly) NC_000002.12:222634536:T:C p.(Arg154Gly) NC_000002.12:222634536:T:C Identity +NM_001393363.1:c.688G>T NP_001380292.1:p.Glu230Ter NC_000003.12:33124473:G:T p.(Glu230Ter) NC_000003.12:33124473:G:T p.(Glu230Ter) NC_000003.12:33124473:G:T Identity +NM_005475.3:c.230G>A NP_005466.1:p.Arg77His NC_000012.12:111418374:G:A p.(Arg77His) NC_000012.12:111418374:G:A p.(Arg77His) NC_000012.12:111418374:G:A Identity +NM_001291424.1:c.188G>A NP_001278353.1:p.Arg63Gln NC_000012.12:111446813:G:A p.(Arg63Gln) NC_000012.12:111446813:G:A p.(Arg63Gln) NC_000012.12:111446813:G:A Identity +NM_016944.2:c.620_621del NP_058640.1:p.Ile207fs NC_000007.14:141779104:ATATA:ATA p.(Ile207ThrfsTer79) NC_000007.14:141779104:ATATA:ATA p.(Ile207ThrfsTer79) NC_000007.14:141779107:TA: Analogous +NM_000053.4:c.3809A>T NP_000044.2:p.Asn1270Ile NC_000013.11:51937569:T:A p.(Asn1270Ile) NC_000013.11:51937569:T:A p.(Asn1270Ile) NC_000013.11:51937569:T:A Identity +NM_000493.4:c.1772G>A NP_000484.2:p.Cys591Tyr NC_000006.12:116120343:C:T p.(Cys591Tyr) NC_000006.12:116120343:C:T p.(Cys591Tyr) NC_000006.12:116120343:C:T Identity +NM_001256627.2:c.937C>T NP_001243556.1:p.Arg313Ter NC_000011.10:1445417:C:T p.(Arg313Ter) NC_000011.10:1445417:C:T p.(Arg313Ter) NC_000011.10:1445417:C:T Identity +NM_014727.3:c.683del NP_055542.1:p.Ala228fs NC_000019.10:35720029:C: p.(Ala228GlufsTer11) NC_000019.10:35720029:C: p.(Ala228GlufsTer11) NC_000019.10:35720029:C: Analogous +NM_000444.6:c.3G>A NP_000435.3:p.Met1Ile NC_000023.11:22033007:G:A p.(Met1Ile) NC_000023.11:22033007:G:A p.Met1? NC_000023.11:22033007:G:A Identity +NM_001362770.2:c.832C>T NP_001349699.1:p.Arg278Ter NC_000020.11:487567:G:A p.(Arg278Ter) NC_000020.11:487567:G:A p.(Arg278Ter) NC_000020.11:487567:G:A Identity +NM_000388.4:c.139A>G NP_000379.3:p.Lys47Glu NC_000003.12:122254327:A:G p.(Lys47Glu) NC_000003.12:122254327:A:G p.(Lys47Glu) NC_000003.12:122254327:A:G Identity +NM_012448.4:c.1718G>A NP_036580.2:p.Trp573Ter NC_000017.11:42210459:C:T p.(Trp573Ter) NC_000017.11:42210459:C:T p.(Trp573Ter) NC_000017.11:42210459:C:T Identity +NM_001378418.1:c.4988dup NP_001365347.1:p.Arg1664fs NC_000022.11:42210317:CCCC:CCCCC p.(Arg1664GlnfsTer12) NC_000022.11:42210317:CCCC:CCCCC p.(Arg1664GlnfsTer12) ERR:SPDI Analogous +NM_001378932.1:c.408C>A NP_001365861.1:p.Phe136Leu NC_000017.11:78358687:G:T p.(Phe136Leu) NC_000017.11:78358687:G:T p.(Phe136Leu) NC_000017.11:78358687:G:T Identity +NM_000109.4:c.8289_8292dup NP_000100.3:p.Val2765fs NC_000023.11:31507354:TGCAT:TGCATGCAT p.(Val2765CysfsTer10) NC_000023.11:31507354:TGCAT:TGCATGCAT p.(Val2765CysfsTer10) ERR:SPDI Analogous +NM_000132.4:c.5806C>T NP_000123.1:p.Arg1936Cys NC_000023.11:154904304:G:A p.(Arg1936Cys) NC_000023.11:154904304:G:A p.(Arg1936Cys) NC_000023.11:154904304:G:A Identity +NM_001301732.3:c.438del NP_001288661.2:p.Lys146fs NC_000014.9:49840785:TTT:TT p.(Lys146AsnfsTer25) NC_000014.9:49840785:TTT:TT p.(Lys146AsnfsTer25) NC_000014.9:49840785:T: Analogous +NM_153252.5:c.1685G>A NP_694984.5:p.Arg562His NC_000023.11:80722752:C:T p.(Arg562His) NC_000023.11:80722752:C:T p.(Arg562His) NC_000023.11:80722752:C:T Identity +NM_001256468.2:c.3682G>T NP_001243397.1:p.Glu1228Ter NC_000010.11:75029054:G:T p.(Glu1228Ter) NC_000010.11:75029054:G:T p.(Glu1228Ter) NC_000010.11:75029054:G:T Identity +NM_001190274.2:c.1799A>G NP_001177203.1:p.His600Arg NC_000002.12:47819076:T:C p.(His600Arg) NC_000002.12:47819076:T:C p.(His600Arg) NC_000002.12:47819076:T:C Identity +NM_006734.4:c.1312C>G NP_006725.3:p.Leu438Val NC_000006.12:142773426:G:C p.(Leu438Val) NC_000006.12:142773426:G:C p.(Leu438Val) NC_000006.12:142773426:G:C Identity +NM_032119.4:c.3222A>G NP_115495.3:p.Ile1074Met NC_000005.10:90647696:A:G p.(Ile1074Met) NC_000005.10:90647696:A:G p.(Ile1074Met) NC_000005.10:90647696:A:G Identity +NM_001081.4:c.5548del NP_001072.2:p.Ile1850fs NC_000010.11:16940031:T: p.(Ile1850TyrfsTer33) NC_000010.11:16940031:T: p.(Ile1850TyrfsTer33) NC_000010.11:16940031:T: Analogous +NM_014362.4:c.917C>T NP_055177.2:p.Ser306Phe NC_000002.12:190213049:G:A p.(Ser306Phe) NC_000002.12:190213049:G:A p.(Ser306Phe) NC_000002.12:190213049:G:A Identity +NM_001165963.4:c.1751_1752dup NP_001159435.1:p.Gly585fs NC_000002.12:166043959:CACA:CACACA p.(Gly585TrpfsTer39) NC_000002.12:166043959:CACA:CACACA p.(Gly585TrpfsTer39) ERR:SPDI Analogous +NM_001302272.2:c.425C>G NP_001289201.1:p.Ala142Gly NC_000010.11:119173758:G:C p.(Ala142Gly) NC_000010.11:119173758:G:C p.(Ala142Gly) NC_000010.11:119173758:G:C Identity +NM_001034194.2:c.151G>C NP_001029366.1:p.Gly51Arg NC_000004.12:121801910:G:C p.(Gly51Arg) NC_000004.12:121801910:G:C p.(Gly51Arg) NC_000004.12:121801910:G:C Identity +NM_052854.4:c.1186G>T NP_443086.1:p.Glu396Ter NC_000011.10:46317414:G:T p.(Glu396Ter) NC_000011.10:46317414:G:T p.(Glu396Ter) NC_000011.10:46317414:G:T Identity +NM_015073.3:c.3492dup NP_055888.1:p.Gly1165fs NC_000019.10:38142664:CCCCC:CCCCCC p.(Gly1165ArgfsTer26) NC_000019.10:38142664:CCCCC:CCCCCC p.(Gly1165ArgfsTer26) ERR:SPDI Analogous +NM_001126117.2:c.312C>G NP_001119589.1:p.Tyr104Ter NC_000017.11:7674254:G:C p.(Tyr104Ter) NC_000017.11:7674254:G:C p.(Tyr104Ter) NC_000017.11:7674254:G:C Identity +NM_001271052.1:c.364G>A NP_001257981.1:p.Glu122Lys NC_000019.10:14767100:C:T p.(Glu122Lys) NC_000019.10:14767100:C:T p.(Glu122Lys) NC_000019.10:14767100:C:T Identity +NM_001377273.1:c.3674A>G NP_001364202.1:p.Tyr1225Cys NC_000012.12:21818246:T:C p.(Tyr1225Cys) NC_000012.12:21818246:T:C p.(Tyr1225Cys) NC_000012.12:21818246:T:C Identity +NM_000278.5:c.841_845del NP_000269.3:p.Lys281fs NC_000010.11:100809152:AAGTCAAGTC:AAGTC p.(Lys281GlufsTer9) NC_000010.11:100809152:AAGTCAAGTC:AAGTC p.(Lys281GlufsTer9) NC_000010.11:100809157:AAGTC: Analogous +NM_001128227.3:c.541A>G NP_001121699.1:p.Ile181Val NC_000009.12:36246198:T:C p.(Ile181Val) NC_000009.12:36246198:T:C p.(Ile181Val) NC_000009.12:36246198:T:C Identity +NM_001291411.2:c.4012_4013insCAGAA NP_001278340.2:p.Val1338fs NC_000021.9:33553243::CAGAA p.(Val1338AlafsTer30) NC_000021.9:33553242:G:CAGAA p.(Val1338AlafsTer30) NC_000021.9:33553243:GT:CAGAA Analogous +NM_001348250.2:c.838_841del NP_001335179.1:p.Ser280fs NC_000003.12:11025568:CTGTCTG:CTG p.(Ser280ThrfsTer23) NC_000003.12:11025568:CTGTCTG:CTG p.(Ser280ThrfsTer23) NC_000003.12:11025571:TCTG: Analogous +NM_021798.4:c.946del NP_068570.1:p.Val316fs NC_000016.10:27448610:GG:G p.(Val316CysfsTer64) NC_000016.10:27448610:GG:G p.(Val316CysfsTer64) NC_000016.10:27448611:G: Analogous +NM_005430.4:c.893T>G NP_005421.1:p.Phe298Cys NC_000012.12:48981419:T:G p.(Phe298Cys) NC_000012.12:48981419:T:G p.(Phe298Cys) NC_000012.12:48981419:T:G Identity +NM_001204492.2:c.1588T>A NP_001191421.1:p.Cys530Ser NC_000010.11:73815046:A:T p.(Cys530Ser) NC_000010.11:73815046:A:T p.(Cys530Ser) NC_000010.11:73815046:A:T Identity +NM_001145357.2:c.275A>G NP_001138829.1:p.Gln92Arg NC_000015.10:75422737:T:C p.(Gln92Arg) NC_000015.10:75422737:T:C p.(Gln92Arg) NC_000015.10:75422737:T:C Identity +NM_003036.4:c.37C>G NP_003027.1:p.Pro13Ala NC_000001.11:2228802:C:G p.(Pro13Ala) NC_000001.11:2228802:C:G p.(Pro13Ala) NC_000001.11:2228802:C:G Identity +NM_001324192.1:c.370A>G NP_001311121.1:p.Met124Val NC_000020.11:3889469:A:G p.(Met124Val) NC_000020.11:3889469:A:G p.(Met124Val) NC_000020.11:3889469:A:G Identity +NM_000261.2:c.1441C>T NP_000252.1:p.Pro481Ser NC_000001.11:171635998:G:A p.(Pro481Ser) NC_000001.11:171635998:G:A p.(Pro481Ser) NC_000001.11:171635998:G:A Identity +NM_000261.2:c.814C>G NP_000252.1:p.Arg272Gly NC_000001.11:171636625:G:C p.(Arg272Gly) NC_000001.11:171636625:G:C p.(Arg272Gly) NC_000001.11:171636625:G:C Identity +NM_183075.3:c.41del NP_898898.1:p.Pro14fs NC_000004.12:107931681:CCC:CC p.(Pro14ArgfsTer30) NC_000004.12:107931681:CCC:CC p.(Pro14ArgfsTer30) NC_000004.12:107931683:C: Analogous +NM_001278431.2:c.562C>A NP_001265360.1:p.Pro188Thr NC_000011.10:119339500:G:T p.(Pro188Thr) NC_000011.10:119339500:G:T p.(Pro188Thr) NC_000011.10:119339500:G:T Identity +NM_138694.4:c.7394G>A NP_619639.3:p.Trp2465Ter NC_000006.12:51870595:C:T p.(Trp2465Ter) NC_000006.12:51870595:C:T p.(Trp2465Ter) NC_000006.12:51870595:C:T Identity +NM_001293735.2:c.120C>A NP_001280664.1:p.Phe40Leu NC_000005.10:131182256:C:A p.(Phe40Leu) NC_000005.10:131182256:C:A p.(Phe40Leu) NC_000005.10:131182256:C:A Identity +NM_001290321.3:c.8102G>C NP_001277250.1:p.Trp2701Ser NC_000005.10:119220559:G:C p.(Trp2701Ser) NC_000005.10:119220559:G:C p.(Trp2701Ser) NC_000005.10:119220559:G:C Identity +NM_001130438.3:c.1463C>T NP_001123910.1:p.Ala488Val NC_000009.12:128581782:C:T p.(Ala488Val) NC_000009.12:128581782:C:T p.(Ala488Val) NC_000009.12:128581782:C:T Identity +NM_001040142.2:c.5512C>G NP_001035232.1:p.Gln1838Glu NC_000002.12:165389317:C:G p.(Gln1838Glu) NC_000002.12:165389317:C:G p.(Gln1838Glu) NC_000002.12:165389317:C:G Identity +NM_015409.5:c.8251A>G NP_056224.3:p.Thr2751Ala NC_000012.12:132062617:A:G p.(Thr2751Ala) NC_000012.12:132062617:A:G p.(Thr2751Ala) NC_000012.12:132062617:A:G Identity +NM_001300907.1:c.695A>G NP_001287836.1:p.Asn232Ser NC_000011.10:68159134:T:C p.(Asn232Ser) NC_000011.10:68159134:T:C p.(Asn232Ser) NC_000011.10:68159134:T:C Identity +NM_001079515.3:c.636_639del NP_001072983.1:p.Asn212fs NC_000001.11:235430775:TCAATCAA:TCAA p.(Asn212LysfsTer4) NC_000001.11:235430775:TCAATCAA:TCAA p.(Asn212LysfsTer4) NC_000001.11:235430779:TCAA: Analogous +NM_001174063.2:c.421A>G NP_001167534.1:p.Thr141Ala NC_000008.11:38428372:T:C p.(Thr141Ala) NC_000008.11:38428372:T:C p.(Thr141Ala) NC_000008.11:38428372:T:C Identity +NM_001242366.3:c.191G>A NP_001229295.1:p.Gly64Glu NC_000017.11:28405923:C:T p.(Gly64Glu) NC_000017.11:28405923:C:T p.(Gly64Glu) NC_000017.11:28405923:C:T Identity +NM_001135146.2:c.410C>T NP_001128618.1:p.Thr137Met NC_000004.12:102307577:G:A p.(Thr137Met) NC_000004.12:102307577:G:A p.(Thr137Met) NC_000004.12:102307577:G:A Identity +NM_004369.4:c.8045C>G NP_004360.2:p.Pro2682Arg NC_000002.12:237340870:G:C p.(Pro2682Arg) NC_000002.12:237340870:G:C p.(Pro2682Arg) NC_000002.12:237340870:G:C Identity +NM_007374.3:c.380del NP_031400.2:p.Asp127fs NC_000014.9:60509777:A: p.(Asp127AlafsTer41) NC_000014.9:60509777:A: p.(Asp127AlafsTer41) NC_000014.9:60509777:A: Analogous +NM_001256053.2:c.2326_2329del NP_001242982.1:p.Leu776fs NC_000010.11:27040007:CTAACT:CT p.(Leu776SerfsTer14) NC_000010.11:27040007:CTAACT:CT p.(Leu776SerfsTer14) NC_000010.11:27040007:CTAA: Analogous +NM_000352.6:c.97G>A NP_000343.2:p.Val33Met NC_000011.10:17476679:C:T p.(Val33Met) NC_000011.10:17476679:C:T p.(Val33Met) NC_000011.10:17476679:C:T Identity +NM_003846.3:c.24T>A NP_003837.1:p.Ser8Arg NC_000001.11:145918664:A:T p.(Ser8Arg) NC_000001.11:145918664:A:T p.(Ser8Arg) NC_000001.11:145918664:A:T Identity +NM_005045.4:c.204C>G NP_005036.2:p.Tyr68Ter NC_000007.14:103989152:G:C p.(Tyr68Ter) NC_000007.14:103989152:G:C p.(Tyr68Ter) NC_000007.14:103989152:G:C Identity +NM_001034194.2:c.329dup NP_001029366.1:p.Arg111fs NC_000004.12:121802961:T:TT p.(Arg111LysfsTer9) NC_000004.12:121802961:T:TT p.(Arg111LysfsTer9) ERR:SPDI Analogous +NM_130466.4:c.2098C>T NP_569733.2:p.Gln700Ter NC_000012.12:109521168:C:T p.(Gln700Ter) NC_000012.12:109521168:C:T p.(Gln700Ter) NC_000012.12:109521168:C:T Identity +NM_000135.4:c.495del NP_000126.2:p.Phe166fs NC_000016.10:89810733:GG:G p.(Phe166SerfsTer26) NC_000016.10:89810733:GG:G p.(Phe166SerfsTer26) NC_000016.10:89810733:G: Analogous +NM_001306219.3:c.686G>A NP_001293148.1:p.Arg229Gln NC_000015.10:57252427:G:A p.(Arg229Gln) NC_000015.10:57252427:G:A p.(Arg229Gln) NC_000015.10:57252427:G:A Identity +NM_000525.4:c.1106G>A NP_000516.3:p.Arg369His NC_000011.10:17386985:C:T p.(Arg369His) NC_000011.10:17386985:C:T p.(Arg369His) NC_000011.10:17386985:C:T Identity +NM_000489.6:c.467A>G NP_000480.3:p.Asn156Ser NC_000023.11:77693840:T:C p.(Asn156Ser) NC_000023.11:77693840:T:C p.(Asn156Ser) NC_000023.11:77693840:T:C Identity +NM_002473.6:c.3181A>T NP_002464.1:p.Ser1061Cys NC_000022.11:36296933:T:A p.(Ser1061Cys) NC_000022.11:36296933:T:A p.(Ser1061Cys) NC_000022.11:36296933:T:A Identity +NM_000142.5:c.1316G>A NP_000133.1:p.Arg439His NC_000004.12:1804872:G:A p.(Arg439His) NC_000004.12:1804872:G:A p.(Arg439His) NC_000004.12:1804872:G:A Identity +NM_000232.5:c.919_921del NP_000223.1:p.Cys307del NC_000004.12:52023992:GCAGC:GC p.(Cys307del) NC_000004.12:52023992:GCAGC:GC p.(Cys307del) NC_000004.12:52023992:GCA: Identity +NM_001354609.2:c.1858A>G NP_001341538.1:p.Met620Val NC_000007.14:140753276:T:C p.(Met620Val) NC_000007.14:140753276:T:C p.(Met620Val) NC_000007.14:140753276:T:C Identity +NM_014208.3:c.981G>T NP_055023.2:p.Glu327Asp NC_000004.12:87613166:G:T p.(Glu327Asp) NC_000004.12:87613166:G:T p.(Glu327Asp) NC_000004.12:87613166:G:T Identity +NM_001386500.1:c.605A>G NP_001373429.1:p.Lys202Arg NC_000001.11:11256091:T:C p.(Lys202Arg) NC_000001.11:11256091:T:C p.(Lys202Arg) NC_000001.11:11256091:T:C Identity +NM_002181.4:c.217C>T NP_002172.2:p.Arg73Cys NC_000002.12:219060250:G:A p.(Arg73Cys) NC_000002.12:219060250:G:A p.(Arg73Cys) NC_000002.12:219060250:G:A Identity +NM_001030003.3:c.47dup NP_001025174.1:p.Tyr16Ter NC_000020.11:44355850:A:AA p.(Tyr16Ter) NC_000020.11:44355850:A:AA p.(Tyr16Ter) ERR:SPDI Identity +NM_000419.5:c.2770C>T NP_000410.2:p.Gln924Ter NC_000017.11:44375068:G:A p.(Gln924Ter) NC_000017.11:44375068:G:A p.(Gln924Ter) NC_000017.11:44375068:G:A Identity +NM_001376.5:c.3532C>T NP_001367.2:p.Arg1178Trp NC_000014.9:101995267:C:T p.(Arg1178Trp) NC_000014.9:101995267:C:T p.(Arg1178Trp) NC_000014.9:101995267:C:T Identity +NM_024496.4:c.2137del NP_078772.1:p.Leu713fs NC_000014.9:77025655:GGGG:GGG p.(Leu713SerfsTer54) NC_000014.9:77025655:GGGG:GGG p.(Leu713SerfsTer54) NC_000014.9:77025655:G: Analogous +NM_024675.4:c.3168A>C NP_078951.2:p.Gln1056His NC_000016.10:23614036:T:G p.(Gln1056His) NC_000016.10:23614036:T:G p.(Gln1056His) NC_000016.10:23614036:T:G Identity +NM_024675.4:c.390_391insT NP_078951.2:p.Arg131Ter NC_000016.10:23636155::A p.(Arg131Ter) NC_000016.10:23636154:T:A p.(Arg131Ter) NC_000016.10:23636155:TG:A Identity +NM_025099.6:c.295G>C NP_079375.3:p.Ala99Pro NC_000017.11:8238531:C:G p.(Ala99Pro) NC_000017.11:8238531:C:G p.(Ala99Pro) NC_000017.11:8238531:C:G Identity +NM_032043.3:c.3668T>G NP_114432.2:p.Leu1223Arg NC_000017.11:61683377:A:C p.(Leu1223Arg) NC_000017.11:61683377:A:C p.(Leu1223Arg) NC_000017.11:61683377:A:C Identity +NM_001018115.3:c.1487T>G NP_001018125.1:p.Leu496Arg NC_000003.12:10049446:T:G p.(Leu496Arg) NC_000003.12:10049446:T:G p.(Leu496Arg) NC_000003.12:10049446:T:G Identity +NM_012327.6:c.1077C>G NP_036459.1:p.Ser359Arg NC_000018.10:62139021:G:C p.(Ser359Arg) NC_000018.10:62139021:G:C p.(Ser359Arg) NC_000018.10:62139021:G:C Identity +NM_000501.4:c.1819G>A NP_000492.2:p.Gly607Arg NC_000007.14:74063184:G:A p.(Gly607Arg) NC_000007.14:74063184:G:A p.(Gly607Arg) NC_000007.14:74063184:G:A Identity +NM_000489.6:c.139A>G NP_000480.3:p.Ile47Val NC_000023.11:77698623:T:C p.(Ile47Val) NC_000023.11:77698623:T:C p.(Ile47Val) NC_000023.11:77698623:T:C Identity +NM_002876.4:c.4C>T NP_002867.1:p.Arg2Cys NC_000017.11:58692646:C:T p.(Arg2Cys) NC_000017.11:58692646:C:T p.(Arg2Cys) NC_000017.11:58692646:C:T Identity +NM_000179.3:c.587G>T NP_000170.1:p.Cys196Phe NC_000002.12:47796022:G:T p.(Cys196Phe) NC_000002.12:47796022:G:T p.(Cys196Phe) NC_000002.12:47796022:G:T Identity +NM_000179.3:c.68C>A NP_000170.1:p.Ala23Asp NC_000002.12:47783300:C:A p.(Ala23Asp) NC_000002.12:47783300:C:A p.(Ala23Asp) NC_000002.12:47783300:C:A Identity +NM_000380.4:c.76G>C NP_000371.1:p.Ala26Pro NC_000009.12:97697216:C:G p.(Ala26Pro) NC_000009.12:97697216:C:G p.(Ala26Pro) NC_000009.12:97697216:C:G Identity +NM_000548.5:c.2437G>T NP_000539.2:p.Val813Leu NC_000016.10:2074280:G:T p.(Val813Leu) NC_000016.10:2074280:G:T p.(Val813Leu) NC_000016.10:2074280:G:T Identity +NM_001204425.2:c.2069G>C NP_001191354.2:p.Gly690Ala NC_000013.11:102861540:G:C p.(Gly690Ala) NC_000013.11:102861540:G:C p.(Gly690Ala) NC_000013.11:102861540:G:C Identity +NM_022725.4:c.688C>T NP_073562.1:p.Pro230Ser NC_000011.10:22625122:G:A p.(Pro230Ser) NC_000011.10:22625122:G:A p.(Pro230Ser) NC_000011.10:22625122:G:A Identity +NM_022725.4:c.696G>C NP_073562.1:p.Glu232Asp NC_000011.10:22625114:C:G p.(Glu232Asp) NC_000011.10:22625114:C:G p.(Glu232Asp) NC_000011.10:22625114:C:G Identity +NM_025099.6:c.1120G>T NP_079375.3:p.Glu374Ter NC_000017.11:8235916:C:A p.(Glu374Ter) NC_000017.11:8235916:C:A p.(Glu374Ter) NC_000017.11:8235916:C:A Identity +NM_000038.6:c.3341G>T NP_000029.2:p.Arg1114Leu NC_000005.10:112838934:G:T p.(Arg1114Leu) NC_000005.10:112838934:G:T p.(Arg1114Leu) NC_000005.10:112838934:G:T Identity +NM_000136.3:c.1457T>C NP_000127.2:p.Leu486Pro NC_000009.12:95107141:A:G p.(Leu486Pro) NC_000009.12:95107141:A:G p.(Leu486Pro) NC_000009.12:95107141:A:G Identity +NM_000400.4:c.1894A>C NP_000391.1:p.Ile632Leu NC_000019.10:45352753:T:G p.(Ile632Leu) NC_000019.10:45352753:T:G p.(Ile632Leu) NC_000019.10:45352753:T:G Identity +NM_001142463.3:c.70G>A NP_001135935.1:p.Glu24Lys NC_000023.11:154764951:G:A p.(Glu24Lys) NC_000023.11:154764951:G:A p.(Glu24Lys) NC_000023.11:154764951:G:A Identity +NM_004304.5:c.448A>C NP_004295.2:p.Ile150Leu NC_000002.12:29920211:T:G p.(Ile150Leu) NC_000002.12:29920211:T:G p.(Ile150Leu) NC_000002.12:29920211:T:G Identity +NM_000551.4:c.569A>G NP_000542.1:p.Asp190Gly NC_000003.12:10149891:A:G p.(Asp190Gly) NC_000003.12:10149891:A:G p.(Asp190Gly) NC_000003.12:10149891:A:G Identity +NM_001287424.2:c.447_448insATGA NP_001274353.1:p.Pro150fs NC_000019.10:33302072::TCAT p.(Pro150MetfsTer56) NC_000019.10:33302071:G:TCAT p.(Pro150MetfsTer56) NC_000019.10:33302072:GG:TCAT Analogous +NM_000465.4:c.122T>G NP_000456.2:p.Leu41Arg NC_000002.12:214809447:A:C p.(Leu41Arg) NC_000002.12:214809447:A:C p.(Leu41Arg) NC_000002.12:214809447:A:C Identity +NM_001048171.2:c.384G>A NP_001041636.2:p.Trp128Ter NC_000001.11:45332953:C:T p.(Trp128Ter) NC_000001.11:45332953:C:T p.(Trp128Ter) NC_000001.11:45332953:C:T Identity +NM_016120.4:c.1611_1614delinsG NP_057204.2:p.Asn538del NC_000023.11:74591700:ATTT:C p.(Asn538del) NC_000023.11:74591700:ATTTA:AC p.(Asn538del) NC_000023.11:74591700:ATTT:C Identity +NM_006766.5:c.5287A>G NP_006757.2:p.Ile1763Val NC_000008.11:41932932:T:C p.(Ile1763Val) NC_000008.11:41932932:T:C p.(Ile1763Val) NC_000008.11:41932932:T:C Identity +NM_001099274.3:c.823A>C NP_001092744.1:p.Thr275Pro NC_000014.9:24240656:T:G p.(Thr275Pro) NC_000014.9:24240656:T:G p.(Thr275Pro) NC_000014.9:24240656:T:G Identity +NM_001283009.2:c.2279C>T NP_001269938.1:p.Ala760Val NC_000020.11:63690306:C:T p.(Ala760Val) NC_000020.11:63690306:C:T p.(Ala760Val) NC_000020.11:63690306:C:T Identity +NM_005236.3:c.1207G>C NP_005227.1:p.Gly403Arg NC_000016.10:13934295:G:C p.(Gly403Arg) NC_000016.10:13934295:G:C p.(Gly403Arg) NC_000016.10:13934295:G:C Identity +NM_000325.6:c.790del NP_000316.2:p.Val264fs NC_000004.12:110618309:CC:C p.(Val264CysfsTer28) NC_000004.12:110618309:CC:C p.(Val264CysfsTer28) NC_000004.12:110618309:C: Analogous +NM_001256849.1:c.332T>G NP_001243778.1:p.Val111Gly NC_000019.10:50401792:T:G p.(Val111Gly) NC_000019.10:50401792:T:G p.(Val111Gly) NC_000019.10:50401792:T:G Identity +NM_001407571.1:c.2516A>G NP_001394500.1:p.Gln839Arg NC_000017.11:43092801:T:C p.(Gln839Arg) NC_000017.11:43092801:T:C p.(Gln839Arg) NC_000017.11:43092801:T:C Identity +NM_001317122.2:c.2122C>T NP_001304051.1:p.Arg708Cys NC_000001.11:35917685:C:T p.(Arg708Cys) NC_000001.11:35917685:C:T p.? NC_000001.11:35917685:C:T Identity +NM_019888.3:c.151G>C NP_063941.3:p.Val51Leu NC_000020.11:56248993:G:C p.(Val51Leu) NC_000020.11:56248993:G:C p.(Val51Leu) NC_000020.11:56248993:G:C Identity +NM_207361.6:c.6664C>T NP_997244.4:p.Pro2222Ser NC_000013.11:38851029:C:T p.(Pro2222Ser) NC_000013.11:38851029:C:T p.(Pro2222Ser) NC_000013.11:38851029:C:T Identity +NM_000068.4:c.124C>T NP_000059.3:p.Pro42Ser NC_000019.10:13506100:G:A p.(Pro42Ser) NC_000019.10:13506100:G:A p.(Pro42Ser) NC_000019.10:13506100:G:A Identity +NM_001289999.2:c.510G>A NP_001276928.1:p.Met170Ile NC_000009.12:91410224:C:T p.(Met170Ile) NC_000009.12:91410224:C:T p.(Met170Ile) NC_000009.12:91410224:C:T Identity +NM_000833.5:c.1012A>G NP_000824.1:p.Met338Val NC_000016.10:9891095:T:C p.(Met338Val) NC_000016.10:9891095:T:C p.(Met338Val) NC_000016.10:9891095:T:C Identity +NM_000135.4:c.4301C>T NP_000126.2:p.Ala1434Val NC_000016.10:89738667:G:A p.(Ala1434Val) NC_000016.10:89738667:G:A p.(Ala1434Val) NC_000016.10:89738667:G:A Identity +NM_002437.5:c.107A>G NP_002428.1:p.Gln36Arg NC_000002.12:27313072:T:C p.(Gln36Arg) NC_000002.12:27313072:T:C p.(Gln36Arg) NC_000002.12:27313072:T:C Identity +NM_001165963.4:c.2636T>C NP_001159435.1:p.Leu879Pro NC_000002.12:166038085:A:G p.(Leu879Pro) NC_000002.12:166038085:A:G p.(Leu879Pro) NC_000002.12:166038085:A:G Identity +NM_001017423.2:c.1901T>C NP_001017423.1:p.Met634Thr NC_000010.11:95613757:A:G p.(Met634Thr) NC_000010.11:95613757:A:G p.(Met634Thr) NC_000010.11:95613757:A:G Identity +NM_000152.5:c.2411G>A NP_000143.2:p.Trp804Ter NC_000017.11:80117678:G:A p.(Trp804Ter) NC_000017.11:80117678:G:A p.(Trp804Ter) NC_000017.11:80117678:G:A Identity +NM_000153.4:c.847A>G NP_000144.2:p.Met283Val NC_000014.9:87968395:T:C p.(Met283Val) NC_000014.9:87968395:T:C p.(Met283Val) NC_000014.9:87968395:T:C Identity +NM_003126.4:c.1403G>C NP_003117.2:p.Arg468Pro NC_000001.11:158672143:C:G p.(Arg468Pro) NC_000001.11:158672143:C:G p.(Arg468Pro) NC_000001.11:158672143:C:G Identity +NM_021620.4:c.844del NP_067633.2:p.Val282fs NC_000006.12:99613474:GGGGG:GGGG p.(Val282SerfsTer19) NC_000006.12:99613474:GGGGG:GGGG p.(Val282SerfsTer19) NC_000006.12:99613478:G: Analogous +NM_001105206.3:c.4169G>A NP_001098676.2:p.Arg1390Gln NC_000006.12:112129039:C:T p.(Arg1390Gln) NC_000006.12:112129039:C:T p.(Arg1390Gln) NC_000006.12:112129039:C:T Identity +NM_016035.5:c.680G>A NP_057119.3:p.Arg227His NC_000009.12:128333526:G:A p.(Arg227His) NC_000009.12:128333526:G:A p.(Arg227His) NC_000009.12:128333526:G:A Identity +NM_001037537.2:c.546C>A NP_001032626.1:p.Phe182Leu NC_000010.11:13281092:G:T p.(Phe182Leu) NC_000010.11:13281092:G:T p.(Phe182Leu) NC_000010.11:13281092:G:T Identity +NM_001024858.4:c.430C>T NP_001020029.1:p.Arg144Cys NC_000014.9:64803650:G:A p.(Arg144Cys) NC_000014.9:64803650:G:A p.(Arg144Cys) NC_000014.9:64803650:G:A Identity +NM_000153.4:c.148G>C NP_000144.2:p.Gly50Arg NC_000014.9:87993016:C:G p.(Gly50Arg) NC_000014.9:87993016:C:G p.(Gly50Arg) NC_000014.9:87993016:C:G Identity +NM_020457.3:c.509C>A NP_065190.2:p.Pro170Gln NC_000016.10:67843062:C:A p.(Pro170Gln) NC_000016.10:67843062:C:A p.(Pro170Gln) NC_000016.10:67843062:C:A Identity +NM_003632.3:c.2863C>T NP_003623.1:p.Pro955Ser NC_000017.11:42693406:C:T p.(Pro955Ser) NC_000017.11:42693406:C:T p.(Pro955Ser) NC_000017.11:42693406:C:T Identity +NM_000152.5:c.795T>A NP_000143.2:p.Ser265Arg NC_000017.11:80107658:T:A p.(Ser265Arg) NC_000017.11:80107658:T:A p.(Ser265Arg) NC_000017.11:80107658:T:A Identity +NM_001198938.2:c.1388A>G NP_001185867.1:p.Gln463Arg NC_000018.10:34863967:A:G p.(Gln463Arg) NC_000018.10:34863967:A:G p.(Gln463Arg) NC_000018.10:34863967:A:G Identity +NM_001271723.2:c.157A>G NP_001258652.1:p.Met53Val NC_000005.10:148399026:A:G p.(Met53Val) NC_000005.10:148399026:A:G p.(Met53Val) NC_000005.10:148399026:A:G Identity +NM_001710.6:c.2199G>C NP_001701.2:p.Gln733His NC_000006.12:31951933:G:C p.(Gln733His) NC_000006.12:31951933:G:C p.(Gln733His) NC_000006.12:31951933:G:C Identity +NM_198569.3:c.796G>A NP_940971.2:p.Val266Ile NC_000006.12:142370519:G:A p.(Val266Ile) NC_000006.12:142370519:G:A p.(Val266Ile) NC_000006.12:142370519:G:A Identity +NM_000492.4:c.281C>T NP_000483.3:p.Thr94Ile NC_000007.14:117530905:C:T p.(Thr94Ile) NC_000007.14:117530905:C:T p.(Thr94Ile) NC_000007.14:117530905:C:T Identity +NM_020533.3:c.619G>A NP_065394.1:p.Asp207Asn NC_000019.10:7527566:G:A p.(Asp207Asn) NC_000019.10:7527566:G:A p.(Asp207Asn) NC_000019.10:7527566:G:A Identity +NM_002641.4:c.684TGT[2] NP_002632.1:p.Val231del NC_000023.11:15331238:ACAACAACAA:ACAACAA p.(Val231del) NC_000023.11:15331246:A:ACAACA ERR:Parse ERR:Parse Identity +NM_001277126.2:c.1340C>T NP_001264055.1:p.Pro447Leu NC_000019.10:53810318:G:A p.(Pro447Leu) NC_000019.10:53810318:G:A p.(Pro447Leu) NC_000019.10:53810318:G:A Identity +NM_000330.4:c.41T>C NP_000321.1:p.Phe14Ser NC_000023.11:18672027:A:G p.(Phe14Ser) NC_000023.11:18672027:A:G p.(Phe14Ser) NC_000023.11:18672027:A:G Identity +NM_001256850.1:c.39289C>G NP_001243779.1:p.Leu13097Val NC_000002.12:178630309:G:C p.(Leu13097Val) NC_000002.12:178630309:G:C p.(Leu13097Val) NC_000002.12:178630309:G:C Identity +NM_000301.5:c.2085C>A NP_000292.1:p.Asp695Glu NC_000006.12:160741376:C:A p.(Asp695Glu) NC_000006.12:160741376:C:A p.(Asp695Glu) NC_000006.12:160741376:C:A Identity +NM_001321135.2:c.642G>C NP_001308064.1:p.Glu214Asp NC_000015.10:77030580:G:C p.(Glu214Asp) NC_000015.10:77030580:G:C p.(Glu214Asp) NC_000015.10:77030580:G:C Identity +NM_199242.3:c.2696G>A NP_954712.1:p.Arg899Gln NC_000017.11:75830590:C:T p.(Arg899Gln) NC_000017.11:75830590:C:T p.(Arg899Gln) NC_000017.11:75830590:C:T Identity +NM_001257970.1:c.758C>T NP_001244899.1:p.Thr253Ile NC_000017.11:80188458:C:T p.(Thr253Ile) NC_000017.11:80188458:C:T p.(Thr253Ile) NC_000017.11:80188458:C:T Identity +NM_015001.3:c.5567A>G NP_055816.2:p.Asn1856Ser NC_000001.11:15931806:A:G p.(Asn1856Ser) NC_000001.11:15931806:A:G p.(Asn1856Ser) NC_000001.11:15931806:A:G Identity +NM_001366177.2:c.7583G>A NP_001353106.1:p.Arg2528His NC_000001.11:155347890:C:T p.(Arg2528His) NC_000001.11:155347890:C:T p.(Arg2528His) NC_000001.11:155347890:C:T Identity +NM_014516.4:c.1277C>T NP_055331.1:p.Ala426Val NC_000019.10:54148529:C:T p.(Ala426Val) NC_000019.10:54148529:C:T p.(Ala426Val) NC_000019.10:54148529:C:T Identity +NM_001065.4:c.215G>T NP_001056.1:p.Cys72Phe NC_000012.12:6333843:C:A p.(Cys72Phe) NC_000012.12:6333843:C:A p.(Cys72Phe) NC_000012.12:6333843:C:A Identity +NM_001375808.2:c.2410C>A NP_001362737.1:p.Pro804Thr NC_000018.10:2921564:G:T p.(Pro804Thr) NC_000018.10:2921564:G:T p.(Pro804Thr) NC_000018.10:2921564:G:T Identity +NM_003922.4:c.2716A>G NP_003913.3:p.Ser906Gly NC_000015.10:63733075:T:C p.(Ser906Gly) NC_000015.10:63733075:T:C p.(Ser906Gly) NC_000015.10:63733075:T:C Identity +NM_001128126.3:c.82C>T NP_001121598.1:p.Arg28Cys NC_000014.9:31066277:C:T p.(Arg28Cys) NC_000014.9:31066277:C:T p.(Arg28Cys) NC_000014.9:31066277:C:T Identity +NM_001257970.1:c.898G>T NP_001244899.1:p.Glu300Ter NC_000017.11:80189806:G:T p.(Glu300Ter) NC_000017.11:80189806:G:T p.(Glu300Ter) NC_000017.11:80189806:G:T Identity +NM_001972.4:c.228C>G NP_001963.1:p.Asn76Lys NC_000019.10:853264:C:G p.(Asn76Lys) NC_000019.10:853264:C:G p.(Asn76Lys) NC_000019.10:853264:C:G Identity +NM_001375808.2:c.2011C>T NP_001362737.1:p.Arg671Cys NC_000018.10:2924473:G:A p.(Arg671Cys) NC_000018.10:2924473:G:A p.(Arg671Cys) NC_000018.10:2924473:G:A Identity +NM_000243.3:c.1429G>A NP_000234.1:p.Glu477Lys NC_000016.10:3247173:C:T p.(Glu477Lys) NC_000016.10:3247173:C:T p.(Glu477Lys) NC_000016.10:3247173:C:T Identity +NM_001145444.1:c.217T>C NP_001138916.1:p.Phe73Leu NC_000021.9:31703823:A:G p.(Phe73Leu) NC_000021.9:31703823:A:G p.(Phe73Leu) NC_000021.9:31703823:A:G Identity +NM_001277126.2:c.104C>A NP_001264055.1:p.Ala35Glu NC_000019.10:53824070:G:T p.(Ala35Glu) NC_000019.10:53824070:G:T p.(Ala35Glu) NC_000019.10:53824070:G:T Identity +NM_001277126.2:c.265G>A NP_001264055.1:p.Gly89Arg NC_000019.10:53823909:C:T p.(Gly89Arg) NC_000019.10:53823909:C:T p.(Gly89Arg) NC_000019.10:53823909:C:T Identity +NM_003922.4:c.7475T>C NP_003913.3:p.Met2492Thr NC_000015.10:63674712:A:G p.(Met2492Thr) NC_000015.10:63674712:A:G p.(Met2492Thr) NC_000015.10:63674712:A:G Identity +NM_001040439.2:c.1657C>T NP_001035529.1:p.Arg553Ter NC_000016.10:1762681:C:T p.(Arg553Ter) NC_000016.10:1762681:C:T p.(Arg553Ter) NC_000016.10:1762681:C:T Identity +NM_173628.4:c.6589G>A NP_775899.3:p.Gly2197Ser NC_000017.11:78491522:C:T p.(Gly2197Ser) NC_000017.11:78491522:C:T p.(Gly2197Ser) NC_000017.11:78491522:C:T Identity +NM_001394372.1:c.2935dup NP_001381301.1:p.Ala979fs NC_000019.10:47694932:GGGGGGG:GGGGGGGG p.(Ala979GlyfsTer86) NC_000019.10:47694932:GGGGGGG:GGGGGGGG p.(Ala979GlyfsTer86) ERR:SPDI Analogous +NM_001372044.2:c.3526C>G NP_001358973.1:p.Pro1176Ala NC_000022.11:50721133:C:G ERR:TranscriptMismatch:expected C, found G at transcript indices 3895..3896 NC_000022.11:50721172:G:G ERR:NM_001372044.2:c.3526C>G: Variant reference (C) does not agree with reference sequence (G) ERR:NM_001372044.2:c.3526C>G: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001367759.1:c.3800G>C NP_001354688.1:p.Arg1267Pro NC_000006.12:121080867:C:G p.(Arg1267Pro) NC_000006.12:121080867:C:G p.(Arg1267Pro) NC_000006.12:121080867:C:G Identity +NM_000089.4:c.1531G>A NP_000080.2:p.Gly511Ser NC_000007.14:94413109:G:A p.(Gly511Ser) NC_000007.14:94413109:G:A p.(Gly511Ser) NC_000007.14:94413109:G:A Identity +NM_018896.5:c.5960C>A NP_061496.2:p.Thr1987Lys NC_000017.11:50621693:C:A p.(Thr1987Lys) NC_000017.11:50621693:C:A p.(Thr1987Lys) NC_000017.11:50621693:C:A Identity +NM_000426.4:c.2718del NP_000417.3:p.Phe906fs NC_000006.12:129288023:TTTT:TTT p.(Phe906LeufsTer169) NC_000006.12:129288023:TTTT:TTT p.(Phe906LeufsTer169) NC_000006.12:129288026:T: Analogous +NM_001042544.1:c.3671C>T NP_001036009.1:p.Pro1224Leu NC_000019.10:40622652:C:T p.(Pro1224Leu) NC_000019.10:40622652:C:T p.(Pro1224Leu) NC_000019.10:40622652:C:T Identity +NM_001077186.2:c.4931G>T NP_001070654.1:p.Arg1644Leu NC_000019.10:50290950:G:T p.(Arg1644Leu) NC_000019.10:50290950:G:T p.(Arg1644Leu) NC_000019.10:50290950:G:T Identity +NM_001256850.1:c.80124dup NP_001243779.1:p.Asp26709fs NC_000002.12:178561084:TTT:TTTT p.(Asp26709ArgfsTer2) NC_000002.12:178561084:TTT:TTTT p.(Asp26709ArgfsTer2) ERR:SPDI Analogous +NM_001849.4:c.1055G>A NP_001840.3:p.Gly352Asp NC_000021.9:46117874:G:A p.(Gly352Asp) NC_000021.9:46117874:G:A p.(Gly352Asp) NC_000021.9:46117874:G:A Identity +NM_001370138.1:c.4219G>T NP_001357067.1:p.Asp1407Tyr NC_000010.11:75029591:G:T p.(Asp1407Tyr) NC_000010.11:75029591:G:T p.(Asp1407Tyr) NC_000010.11:75029591:G:T Identity +NM_017780.4:c.4882G>A NP_060250.2:p.Gly1628Arg NC_000008.11:60844894:G:A p.(Gly1628Arg) NC_000008.11:60844894:G:A p.(Gly1628Arg) NC_000008.11:60844894:G:A Identity +NM_000552.5:c.3845T>C NP_000543.3:p.Leu1282Pro NC_000012.12:6019572:A:G p.(Leu1282Pro) NC_000012.12:6019572:A:G p.(Leu1282Pro) NC_000012.12:6019572:A:G Identity +NM_001160210.2:c.1959C>A NP_001153682.1:p.Asn653Lys NC_000007.14:96121262:G:T p.(Asn653Lys) NC_000007.14:96121262:G:T p.(Asn653Lys) NC_000007.14:96121262:G:T Identity +NM_001007471.4:c.4193C>G NP_001007472.2:p.Ser1398Trp NC_000009.12:70536883:G:C p.(Ser1398Trp) NC_000009.12:70536883:G:C p.(Ser1398Trp) NC_000009.12:70536883:G:C Identity +NM_017780.4:c.3994C>T NP_060250.2:p.Pro1332Ser NC_000008.11:60836820:C:T p.(Pro1332Ser) NC_000008.11:60836820:C:T p.(Pro1332Ser) NC_000008.11:60836820:C:T Identity +NM_000168.6:c.3727G>C NP_000159.3:p.Ala1243Pro NC_000007.14:41965345:C:G p.(Ala1243Pro) NC_000007.14:41965345:C:G p.(Ala1243Pro) NC_000007.14:41965345:C:G Identity +NM_006946.4:c.189C>G NP_008877.2:p.Phe63Leu NC_000011.10:66715949:G:C p.(Phe63Leu) NC_000011.10:66715949:G:C p.(Phe63Leu) NC_000011.10:66715949:G:C Identity +NM_000543.5:c.1833C>G NP_000534.3:p.His611Gln NC_000011.10:6394543:C:G p.(His611Gln) NC_000011.10:6394543:C:G p.(His611Gln) NC_000011.10:6394543:C:G Identity +NM_001077416.2:c.628G>C NP_001070884.2:p.Ala210Pro NC_000016.10:75545464:C:G p.(Ala210Pro) NC_000016.10:75545464:C:G p.(Ala210Pro) NC_000016.10:75545464:C:G Identity +NM_001201543.2:c.2020G>T NP_001188472.1:p.Glu674Ter NC_000002.12:61826585:C:A p.(Glu674Ter) NC_000002.12:61826585:C:A p.(Glu674Ter) NC_000002.12:61826585:C:A Identity +NM_000720.4:c.2704C>T NP_000711.1:p.Leu902Phe NC_000003.12:53735395:C:T p.(Leu902Phe) NC_000003.12:53735395:C:T p.(Leu902Phe) NC_000003.12:53735395:C:T Identity +NM_001368062.3:c.743A>C NP_001354991.2:p.Asp248Ala NC_000012.12:80233022:A:C p.(Asp248Ala) NC_000012.12:80233022:A:C p.(Asp248Ala) NC_000012.12:80233022:A:C Identity +NM_000844.4:c.311G>T NP_000835.1:p.Arg104Leu NC_000003.12:6861698:G:T p.(Arg104Leu) NC_000003.12:6861698:G:T p.(Arg104Leu) NC_000003.12:6861698:G:T Identity +NM_001173479.2:c.295A>G NP_001166950.1:p.Ile99Val NC_000023.11:63697231:T:C p.(Ile99Val) NC_000023.11:63697231:T:C p.(Ile99Val) NC_000023.11:63697231:T:C Identity +NM_001271938.2:c.8381C>G NP_001258867.1:p.Pro2794Arg NC_000019.10:42376617:C:G p.(Pro2794Arg) NC_000019.10:42376617:C:G p.(Pro2794Arg) NC_000019.10:42376617:C:G Identity +NM_003718.5:c.2579G>A NP_003709.3:p.Arg860Gln NC_000007.14:40047855:G:A p.(Arg860Gln) NC_000007.14:40047855:G:A p.(Arg860Gln) NC_000007.14:40047855:G:A Identity +NM_001135659.3:c.4258G>A NP_001129131.1:p.Asp1420Asn NC_000002.12:49943781:C:T p.(Asp1420Asn) NC_000002.12:49943781:C:T p.(Asp1420Asn) NC_000002.12:49943781:C:T Identity +NM_000104.4:c.883G>A NP_000095.2:p.Ala295Thr NC_000002.12:38074505:C:T p.(Ala295Thr) NC_000002.12:38074505:C:T p.(Ala295Thr) NC_000002.12:38074505:C:T Identity +NM_020158.4:c.50C>T NP_064543.3:p.Thr17Ile NC_000019.10:41397278:G:A p.(Thr17Ile) NC_000019.10:41397278:G:A p.(Thr17Ile) NC_000019.10:41397278:G:A Identity +NM_001256850.1:c.23947G>C NP_001243779.1:p.Glu7983Gln NC_000002.12:178718107:C:G p.(Glu7983Gln) NC_000002.12:178718107:C:G p.(Glu7983Gln) NC_000002.12:178718107:C:G Identity +NM_001384474.1:c.2317C>T NP_001371403.1:p.Arg773Cys NC_000018.10:46566376:G:A p.(Arg773Cys) NC_000018.10:46566376:G:A p.(Arg773Cys) NC_000018.10:46566376:G:A Identity +NM_001243156.2:c.1522del NP_001230085.2:p.Gln508fs NC_000016.10:84180044:GGGGGGGG:GGGGGGG p.(Gln508SerfsTer28) NC_000016.10:84180044:GGGGGGGG:GGGGGGG p.(Gln508SerfsTer28) NC_000016.10:84180044:G: Analogous +NM_012452.3:c.788C>T NP_036584.1:p.Thr263Ile NC_000017.11:16939640:G:A p.(Thr263Ile) NC_000017.11:16939640:G:A p.(Thr263Ile) NC_000017.11:16939640:G:A Identity +NM_030632.3:c.5252C>G NP_085135.1:p.Thr1751Arg NC_000018.10:33745099:C:G p.(Thr1751Arg) NC_000018.10:33745099:C:G p.(Thr1751Arg) NC_000018.10:33745099:C:G Identity +NM_001145794.2:c.469T>C NP_001139266.1:p.Ser157Pro NC_000004.12:80055376:A:G p.(Ser157Pro) NC_000004.12:80055376:A:G p.(Ser157Pro) NC_000004.12:80055376:A:G Identity +NM_001164507.2:c.10418T>A NP_001157979.2:p.Met3473Lys NC_000002.12:151625567:A:T p.(Met3473Lys) NC_000002.12:151625567:A:T p.(Met3473Lys) NC_000002.12:151625567:A:T Identity +NM_014714.4:c.37G>T NP_055529.2:p.Asp13Tyr NC_000016.10:1607229:C:A p.(Asp13Tyr) NC_000016.10:1607229:C:A p.(Asp13Tyr) NC_000016.10:1607229:C:A Identity +NM_001166133.2:c.1214C>A NP_001159605.1:p.Ala405Asp NC_000004.12:78282925:C:A p.(Ala405Asp) NC_000004.12:78282925:C:A p.(Ala405Asp) NC_000004.12:78282925:C:A Identity +NM_000227.6:c.3365C>T NP_000218.3:p.Thr1122Met NC_000018.10:23928136:C:T p.(Thr1122Met) NC_000018.10:23928136:C:T p.(Thr1122Met) NC_000018.10:23928136:C:T Identity +NM_001354726.2:c.2186A>C NP_001341655.1:p.Lys729Thr NC_000003.12:14145998:T:G p.(Lys729Thr) NC_000003.12:14145998:T:G p.(Lys729Thr) NC_000003.12:14145998:T:G Identity +NM_001374769.1:c.989A>G NP_001361698.1:p.Tyr330Cys NC_000006.12:100447276:T:C p.(Tyr330Cys) NC_000006.12:100447276:T:C p.(Tyr330Cys) NC_000006.12:100447276:T:C Identity +NM_005334.3:c.4376C>T NP_005325.2:p.Thr1459Ile NC_000023.11:153953727:G:A p.(Thr1459Ile) NC_000023.11:153953727:G:A p.(Thr1459Ile) NC_000023.11:153953727:G:A Identity +NM_001382751.1:c.337T>A NP_001369680.1:p.Ser113Thr NC_000023.11:107841061:T:A p.(Ser113Thr) NC_000023.11:107841061:T:A p.(Ser113Thr) NC_000023.11:107841061:T:A Identity +NM_006236.3:c.998G>C NP_006227.1:p.Arg333Pro NC_000002.12:104856507:G:C p.(Arg333Pro) NC_000002.12:104856507:G:C p.(Arg333Pro) NC_000002.12:104856507:G:C Identity +NM_000188.3:c.1119C>A NP_000179.2:p.His373Gln NC_000010.11:69379948:C:A p.(His373Gln) NC_000010.11:69379948:C:A p.(His373Gln) NC_000010.11:69379948:C:A Identity +NM_001846.4:c.914G>T NP_001837.2:p.Gly305Val NC_000013.11:110439789:G:T p.(Gly305Val) NC_000013.11:110439789:G:T p.(Gly305Val) NC_000013.11:110439789:G:T Identity +NM_001330069.2:c.442G>A NP_001316998.1:p.Ala148Thr NC_000014.9:29666169:C:T p.(Ala148Thr) NC_000014.9:29666169:C:T p.(Ala148Thr) NC_000014.9:29666169:C:T Identity +NM_001680.5:c.25G>T NP_001671.2:p.Gly9Cys NC_000011.10:117824653:C:A p.(Gly9Cys) NC_000011.10:117824653:C:A p.(Gly9Cys) NC_000011.10:117824653:C:A Identity +NM_012479.4:c.80T>G NP_036611.2:p.Met27Arg NC_000007.14:76358728:A:C p.(Met27Arg) NC_000007.14:76358728:A:C p.(Met27Arg) NC_000007.14:76358728:A:C Identity +NM_181840.1:c.721C>A NP_862823.1:p.Gln241Lys NC_000010.11:117209864:C:A p.(Gln241Lys) NC_000010.11:117209864:C:A p.(Gln241Lys) NC_000010.11:117209864:C:A Identity +NM_020719.3:c.4544C>G NP_065770.1:p.Pro1515Arg NC_000019.10:49601688:C:G p.(Pro1515Arg) NC_000019.10:49601688:C:G p.(Pro1515Arg) NC_000019.10:49601688:C:G Identity +NM_001256850.1:c.35179C>A NP_001243779.1:p.Pro11727Thr NC_000002.12:178650759:G:T p.(Pro11727Thr) NC_000002.12:178650759:G:T p.(Pro11727Thr) NC_000002.12:178650759:G:T Identity +NM_001005407.2:c.2780T>C NP_001005407.1:p.Phe927Ser NC_000016.10:1206279:T:C p.(Phe927Ser) NC_000016.10:1206279:T:C p.(Phe927Ser) NC_000016.10:1206279:T:C Identity +NM_001363671.2:c.142del NP_001350600.1:p.Val48fs NC_000007.14:100101962:G: p.(Val48SerfsTer3) NC_000007.14:100101962:G: p.(Val48SerfsTer3) NC_000007.14:100101962:G: Analogous +NM_003482.4:c.16273G>A NP_003473.3:p.Glu5425Lys NC_000012.12:49022654:C:T p.(Glu5425Lys) NC_000012.12:49022654:C:T p.(Glu5425Lys) NC_000012.12:49022654:C:T Identity +NM_030665.4:c.2105C>T NP_109590.3:p.Thr702Ile NC_000017.11:17795052:C:T p.(Thr702Ile) NC_000017.11:17795052:C:T p.(Thr702Ile) NC_000017.11:17795052:C:T Identity +NM_001130089.2:c.1669A>G NP_001123561.1:p.Ile557Val NC_000016.10:75628678:T:C p.(Ile557Val) NC_000016.10:75628678:T:C p.(Ile557Val) NC_000016.10:75628678:T:C Identity +NM_001256850.1:c.58012G>C NP_001243779.1:p.Glu19338Gln NC_000002.12:178588789:C:G p.(Glu19338Gln) NC_000002.12:178588789:C:G p.(Glu19338Gln) NC_000002.12:178588789:C:G Identity +NM_001318360.2:c.2867A>G NP_001305289.1:p.Glu956Gly NC_000009.12:108889344:T:C p.(Glu956Gly) NC_000009.12:108889344:T:C p.(Glu956Gly) NC_000009.12:108889344:T:C Identity +NM_000806.5:c.667C>T NP_000797.2:p.Gln223Ter NC_000005.10:161882664:C:T p.(Gln223Ter) NC_000005.10:161882664:C:T p.(Gln223Ter) NC_000005.10:161882664:C:T Identity +NM_000083.3:c.1438C>A NP_000074.3:p.Pro480Thr NC_000007.14:143339288:C:A p.(Pro480Thr) NC_000007.14:143339288:C:A p.(Pro480Thr) NC_000007.14:143339288:C:A Identity +NM_000388.4:c.1283C>A NP_000379.3:p.Ala428Asp NC_000003.12:122262317:C:A p.(Ala428Asp) NC_000003.12:122262317:C:A p.(Ala428Asp) NC_000003.12:122262317:C:A Identity +NM_000388.4:c.903del NP_000379.3:p.Ser302fs NC_000003.12:122261937:C: p.(Ser302ProfsTer3) NC_000003.12:122261937:C: p.(Ser302ProfsTer3) NC_000003.12:122261937:C: Analogous +NM_001350748.2:c.107C>A NP_001337677.1:p.Pro36Gln NC_000013.11:101399019:G:T p.(Pro36Gln) NC_000013.11:101399019:G:T p.(Pro36Gln) NC_000013.11:101399019:G:T Identity +NM_001365276.2:c.9988C>A NP_001352205.1:p.Leu3330Ile NC_000006.12:32048419:G:T p.(Leu3330Ile) NC_000006.12:32048419:G:T p.(Leu3330Ile) NC_000006.12:32048419:G:T Identity +NM_001999.4:c.3347T>G NP_001990.2:p.Ile1116Ser NC_000005.10:128339057:A:C p.(Ile1116Ser) NC_000005.10:128339057:A:C p.(Ile1116Ser) NC_000005.10:128339057:A:C Identity +NM_001159651.3:c.334C>T NP_001153123.1:p.Arg112Ter NC_000005.10:173613158:G:A p.(Arg112Ter) NC_000005.10:173613158:G:A p.(Arg112Ter) NC_000005.10:173613158:G:A Identity +NM_001080477.4:c.2590G>T NP_001073946.1:p.Ala864Ser NC_000004.12:182730203:G:T p.(Ala864Ser) NC_000004.12:182730203:G:T p.(Ala864Ser) NC_000004.12:182730203:G:T Identity +NM_001378120.1:c.4229A>G NP_001365049.1:p.Asn1410Ser NC_000002.12:148489860:A:G p.(Asn1410Ser) NC_000002.12:148489860:A:G p.(Asn1410Ser) NC_000002.12:148489860:A:G Identity +NM_001304482.2:c.380A>C NP_001291411.1:p.His127Pro NC_000003.12:47406610:A:C p.(His127Pro) NC_000003.12:47406610:A:C p.(His127Pro) NC_000003.12:47406610:A:C Identity +NM_001077186.2:c.5558A>C NP_001070654.1:p.Glu1853Ala NC_000019.10:50301847:A:C p.(Glu1853Ala) NC_000019.10:50301847:A:C p.(Glu1853Ala) NC_000019.10:50301847:A:C Identity +NM_000426.4:c.8222C>T NP_000417.3:p.Thr2741Met NC_000006.12:129492460:C:T p.(Thr2741Met) NC_000006.12:129492460:C:T p.(Thr2741Met) NC_000006.12:129492460:C:T Identity +NM_001287491.2:c.2612G>T NP_001274420.1:p.Arg871Leu NC_000002.12:74080523:G:T p.(Arg871Leu) NC_000002.12:74080523:G:T p.(Arg871Leu) NC_000002.12:74080523:G:T Identity +NM_015001.3:c.6861T>G NP_055816.2:p.Asn2287Lys NC_000001.11:15933100:T:G p.(Asn2287Lys) NC_000001.11:15933100:T:G p.(Asn2287Lys) NC_000001.11:15933100:T:G Identity +NM_003482.4:c.7111C>A NP_003473.3:p.Pro2371Thr NC_000012.12:49040658:G:T p.(Pro2371Thr) NC_000012.12:49040658:G:T p.(Pro2371Thr) NC_000012.12:49040658:G:T Identity +NM_001190274.2:c.914C>A NP_001177203.1:p.Pro305Gln NC_000002.12:47834598:G:T p.(Pro305Gln) NC_000002.12:47834598:G:T p.(Pro305Gln) NC_000002.12:47834598:G:T Identity +NM_001005407.2:c.233C>A NP_001005407.1:p.Thr78Lys NC_000016.10:1153969:C:A p.(Thr78Lys) NC_000016.10:1153969:C:A p.(Thr78Lys) NC_000016.10:1153969:C:A Identity +NM_002516.4:c.88G>A NP_002507.1:p.Glu30Lys NC_000019.10:45961150:C:T p.(Glu30Lys) NC_000019.10:45961150:C:T p.(Glu30Lys) NC_000019.10:45961150:C:T Identity +NM_001659.3:c.379A>G NP_001650.1:p.Lys127Glu NC_000012.12:48939659:T:C p.(Lys127Glu) NC_000012.12:48939659:T:C p.(Lys127Glu) NC_000012.12:48939659:T:C Identity +NM_032409.3:c.158G>A NP_115785.1:p.Gly53Asp NC_000001.11:20633705:G:A p.(Gly53Asp) NC_000001.11:20633705:G:A p.(Gly53Asp) NC_000001.11:20633705:G:A Identity +NM_001330360.2:c.3289A>G NP_001317289.1:p.Thr1097Ala NC_000023.11:24812855:A:G p.(Thr1097Ala) NC_000023.11:24812855:A:G p.(Thr1097Ala) NC_000023.11:24812855:A:G Identity +NM_133378.4:c.34276C>T NP_596869.4:p.Pro11426Ser NC_000002.12:178635208:G:A p.(Pro11426Ser) NC_000002.12:178635208:G:A p.(Pro11426Ser) NC_000002.12:178635208:G:A Identity +NM_001166660.2:c.1309C>G NP_001160132.1:p.Leu437Val NC_000023.11:71167525:C:G p.(Leu437Val) NC_000023.11:71167525:C:G p.(Leu437Val) NC_000023.11:71167525:C:G Identity +LRG_1017t1:c.164A>C LRG_1017p1:p.Gln55Pro NC_000023.11:153725429:A:C ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found ERR:AlignmentMapper(tx_ac=LRG_1017t1, alt_ac=LRG_1017t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1017t1, alt_ac=LRG_1017t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1017t1 not found +NM_006015.6:c.6230C>A NP_006006.3:p.Pro2077His NC_000001.11:26780127:C:A p.(Pro2077His) NC_000001.11:26780127:C:A p.(Pro2077His) NC_000001.11:26780127:C:A Identity +NM_006267.5:c.2954C>G NP_006258.3:p.Pro985Arg NC_000002.12:108763492:C:G p.(Pro985Arg) NC_000002.12:108763492:C:G p.(Pro985Arg) NC_000002.12:108763492:C:G Identity +NM_004771.4:c.448A>C NP_004762.2:p.Ser150Arg NC_000011.10:102611829:T:G p.(Ser150Arg) NC_000011.10:102611829:T:G p.(Ser150Arg) NC_000011.10:102611829:T:G Identity +NM_019112.4:c.2929G>A NP_061985.2:p.Gly977Ser NC_000019.10:1051552:G:A p.(Gly977Ser) NC_000019.10:1051552:G:A p.(Gly977Ser) NC_000019.10:1051552:G:A Identity +NM_001363864.1:c.1A>G NP_001350793.1:p.Met1Val NC_000002.12:60553269:T:C p.(Met1Val) NC_000002.12:60553269:T:C p.Met1? NC_000002.12:60553269:T:C Identity +NM_000317.3:c.351C>A NP_000308.1:p.Asn117Lys NC_000011.10:112233467:C:A p.(Asn117Lys) NC_000011.10:112233467:C:A p.(Asn117Lys) NC_000011.10:112233467:C:A Identity +NM_001286457.2:c.815T>C NP_001273386.2:p.Leu272Ser NC_000016.10:8916544:A:G p.(Leu272Ser) NC_000016.10:8916544:A:G p.(Leu272Ser) NC_000016.10:8916544:A:G Identity +NM_012310.5:c.2285G>A NP_036442.3:p.Arg762His NC_000023.11:70395722:G:A p.(Arg762His) NC_000023.11:70395722:G:A p.(Arg762His) NC_000023.11:70395722:G:A Identity +NM_020778.5:c.2848C>T NP_065829.4:p.Arg950Trp NC_000015.10:84857585:C:T p.(Arg950Trp) NC_000015.10:84857585:C:T p.(Arg950Trp) NC_000015.10:84857585:C:T Identity +NM_001379200.1:c.962T>C NP_001366129.1:p.Leu321Pro NC_000022.11:19765927:T:C p.(Leu321Pro) NC_000022.11:19765927:T:C p.(Leu321Pro) NC_000022.11:19765927:T:C Identity +NM_001098209.2:c.1350dup NP_001091679.1:p.Val451fs NC_000003.12:41233692:T:TT p.(Val451CysfsTer6) NC_000003.12:41233692:T:TT p.(Val451CysfsTer6) ERR:SPDI Analogous +NM_003036.4:c.1026del NP_003027.1:p.Gln342fs NC_000001.11:2303033:G: p.(Gln342HisfsTer89) NC_000001.11:2303033:G: p.(Gln342HisfsTer89) NC_000001.11:2303033:G: Analogous +NM_000719.7:c.1159dup NP_000710.5:p.Thr387fs NC_000012.12:2504886:A:AA p.(Thr387AsnfsTer12) NC_000012.12:2504886:A:AA p.(Thr387AsnfsTer12) ERR:SPDI Analogous +NM_000555.3:c.722_725dup NP_000546.2:p.Leu243fs NC_000023.11:111401212:GACTG:GACTGACTG p.(Leu243ValfsTer4) NC_000023.11:111401212:GACTG:GACTGACTG p.(Leu243ValfsTer4) ERR:SPDI Analogous +NM_001197104.2:c.8766A>C NP_001184033.1:p.Glu2922Asp NC_000011.10:118504657:A:C p.(Glu2922Asp) NC_000011.10:118504657:A:C p.(Glu2922Asp) NC_000011.10:118504657:A:C Identity +NM_000138.5:c.1526G>T NP_000129.3:p.Gly509Val NC_000015.10:48513610:C:A p.(Gly509Val) NC_000015.10:48513610:C:A p.(Gly509Val) NC_000015.10:48513610:C:A Identity +NM_001353591.2:c.1169G>A NP_001340520.1:p.Arg390Gln NC_000014.9:74290322:C:T p.(Arg390Gln) NC_000014.9:74290322:C:T p.(Arg390Gln) NC_000014.9:74290322:C:T Identity +NM_000202.8:c.1400C>G NP_000193.1:p.Pro467Arg NC_000023.11:149482998:G:C p.(Pro467Arg) NC_000023.11:149482998:G:C p.(Pro467Arg) NC_000023.11:149482998:G:C Identity +NM_004998.4:c.784A>G NP_004989.2:p.Met262Val NC_000015.10:59223184:T:C p.(Met262Val) NC_000015.10:59223184:T:C p.(Met262Val) NC_000015.10:59223184:T:C Identity +NM_000084.5:c.1264G>A NP_000075.1:p.Val422Met NC_000023.11:50086786:G:A p.(Val422Met) NC_000023.11:50086786:G:A p.(Val422Met) NC_000023.11:50086786:G:A Identity +NM_003542.4:c.274A>G NP_003533.1:p.Lys92Glu NC_000006.12:26104220:A:G p.(Lys92Glu) NC_000006.12:26104220:A:G p.(Lys92Glu) NC_000006.12:26104220:A:G Identity +NM_173849.3:c.256G>C NP_776248.1:p.Gly86Arg NC_000014.9:94769759:C:G p.(Gly86Arg) NC_000014.9:94769759:C:G p.(Gly86Arg) NC_000014.9:94769759:C:G Identity +NM_002238.4:c.2654A>C NP_002229.1:p.His885Pro NC_000001.11:210683515:T:G p.(His885Pro) NC_000001.11:210683515:T:G p.(His885Pro) NC_000001.11:210683515:T:G Identity +NM_001362843.2:c.1985C>A NP_001349772.1:p.Ala662Glu NC_000022.11:41141153:C:A p.(Ala662Glu) NC_000022.11:41141153:C:A p.(Ala662Glu) NC_000022.11:41141153:C:A Identity +NM_000132.4:c.5302C>T NP_000123.1:p.Arg1768Cys NC_000023.11:154906490:G:A p.(Arg1768Cys) NC_000023.11:154906490:G:A p.(Arg1768Cys) NC_000023.11:154906490:G:A Identity +NM_000162.5:c.641dup NP_000153.1:p.Tyr214Ter NC_000007.14:44149797:T:TT p.(Tyr214Ter) NC_000007.14:44149797:T:TT p.(Tyr214Ter) ERR:SPDI Identity +NM_000426.4:c.5266A>T NP_000417.3:p.Lys1756Ter NC_000006.12:129393075:A:T p.(Lys1756Ter) NC_000006.12:129393075:A:T p.(Lys1756Ter) NC_000006.12:129393075:A:T Identity +NM_001287489.2:c.4423G>A NP_001274418.1:p.Asp1475Asn NC_000002.12:26466790:C:T p.(Asp1475Asn) NC_000002.12:26466790:C:T p.(Asp1475Asn) NC_000002.12:26466790:C:T Identity +NM_001195733.2:c.1375C>T NP_001182662.1:p.Arg459Cys NC_000019.10:3644221:G:A p.(Arg459Cys) NC_000019.10:3644221:G:A p.(Arg459Cys) NC_000019.10:3644221:G:A Identity +NM_006593.4:c.381del NP_006584.1:p.Gly128fs NC_000002.12:161416787:CCCC:CCC p.(Gly128AlafsTer88) NC_000002.12:161416787:CCCC:CCC p.(Gly128AlafsTer88) NC_000002.12:161416790:C: Analogous +NM_001164507.2:c.6296A>T NP_001157979.2:p.Asp2099Val NC_000002.12:151656351:T:A p.(Asp2099Val) NC_000002.12:151656351:T:A p.(Asp2099Val) NC_000002.12:151656351:T:A Identity +NM_001384125.1:c.4057C>G NP_001371054.1:p.Leu1353Val NC_000004.12:122239738:C:G p.(Leu1353Val) NC_000004.12:122239738:C:G p.(Leu1353Val) NC_000004.12:122239738:C:G Identity +NM_001394062.1:c.14858A>C NP_001380991.1:p.Glu4953Ala NC_000001.11:39387699:A:C p.(Glu4953Ala) NC_000001.11:39387699:A:C p.(Glu4953Ala) NC_000001.11:39387699:A:C Identity +NM_001379343.1:c.593G>C NP_001366272.1:p.Ser198Thr NC_000015.10:52128232:C:G p.(Ser198Thr) NC_000015.10:52128232:C:G p.(Ser198Thr) NC_000015.10:52128232:C:G Identity +NM_003476.5:c.156T>A NP_003467.1:p.His52Gln NC_000011.10:19188260:A:T p.(His52Gln) NC_000011.10:19188260:A:T p.(His52Gln) NC_000011.10:19188260:A:T Identity +NM_001204467.2:c.373G>T NP_001191396.1:p.Glu125Ter NC_000023.11:47171198:G:T p.(Glu125Ter) NC_000023.11:47171198:G:T p.(Glu125Ter) NC_000023.11:47171198:G:T Identity +NM_000297.4:c.1197del NP_000288.1:p.Glu400fs NC_000004.12:88043334:A: p.(Glu400ArgfsTer52) NC_000004.12:88043334:A: p.(Glu400ArgfsTer52) NC_000004.12:88043334:A: Analogous +NM_000521.4:c.1061A>G NP_000512.2:p.Asp354Gly NC_000005.10:74715668:A:G p.(Asp354Gly) NC_000005.10:74715668:A:G p.(Asp354Gly) NC_000005.10:74715668:A:G Identity +NM_002470.4:c.4217A>G NP_002461.2:p.Glu1406Gly NC_000017.11:10634978:T:C p.(Glu1406Gly) NC_000017.11:10634978:T:C p.(Glu1406Gly) NC_000017.11:10634978:T:C Identity +NM_006208.3:c.2741T>A NP_006199.2:p.Leu914Ter NC_000006.12:131890473:T:A p.(Leu914Ter) NC_000006.12:131890473:T:A p.(Leu914Ter) NC_000006.12:131890473:T:A Identity +NM_001394372.1:c.4343dup NP_001381301.1:p.Pro1449fs NC_000019.10:47702069:CCCCCC:CCCCCCC p.(Pro1449AlafsTer47) NC_000019.10:47702069:CCCCCC:CCCCCCC p.(Pro1449AlafsTer47) ERR:SPDI Analogous +NM_001286771.3:c.3124T>A NP_001273700.1:p.Ser1042Thr NC_000004.12:73124941:A:T p.(Ser1042Thr) NC_000004.12:73124941:A:T p.(Ser1042Thr) NC_000004.12:73124941:A:T Identity +NM_021072.4:c.1338G>T NP_066550.2:p.Glu446Asp NC_000005.10:45353138:C:A p.(Glu446Asp) NC_000005.10:45353138:C:A p.(Glu446Asp) NC_000005.10:45353138:C:A Identity +NM_015335.5:c.1717C>A NP_056150.1:p.Pro573Thr NC_000012.12:116008695:G:T p.(Pro573Thr) NC_000012.12:116008695:G:T p.(Pro573Thr) NC_000012.12:116008695:G:T Identity +NM_001394062.1:c.14549A>G NP_001380991.1:p.Tyr4850Cys NC_000001.11:39387390:A:G p.(Tyr4850Cys) NC_000001.11:39387390:A:G p.(Tyr4850Cys) NC_000001.11:39387390:A:G Identity +NM_030632.3:c.5149G>A NP_085135.1:p.Glu1717Lys NC_000018.10:33744996:G:A p.(Glu1717Lys) NC_000018.10:33744996:G:A p.(Glu1717Lys) NC_000018.10:33744996:G:A Identity +NM_000143.4:c.95C>G NP_000134.2:p.Ala32Gly NC_000001.11:241519627:G:C p.(Ala32Gly) NC_000001.11:241519627:G:C p.(Ala32Gly) NC_000001.11:241519627:G:C Identity +NM_001080517.3:c.278G>A NP_001073986.1:p.Cys93Tyr NC_000003.12:9434433:G:A p.(Cys93Tyr) NC_000003.12:9434433:G:A p.(Cys93Tyr) NC_000003.12:9434433:G:A Identity +NM_001195263.2:c.2068G>A NP_001182192.1:p.Glu690Lys NC_000010.11:101010820:C:T p.(Glu690Lys) NC_000010.11:101010820:C:T p.(Glu690Lys) NC_000010.11:101010820:C:T Identity +NM_001080442.3:c.803C>T NP_001073911.1:p.Thr268Met NC_000016.10:84022776:G:A p.(Thr268Met) NC_000016.10:84022776:G:A p.(Thr268Met) NC_000016.10:84022776:G:A Identity +NM_001363850.1:c.1987A>T NP_001350779.1:p.Lys663Ter NC_000016.10:89553843:A:T p.(Lys663Ter) NC_000016.10:89553843:A:T p.(Lys663Ter) NC_000016.10:89553843:A:T Identity +NM_002471.4:c.2579G>T NP_002462.2:p.Arg860Leu NC_000014.9:23394173:C:A p.(Arg860Leu) NC_000014.9:23394173:C:A p.(Arg860Leu) NC_000014.9:23394173:C:A Identity +NM_002547.3:c.1929T>G NP_002538.1:p.Ser643Arg NC_000023.11:68064082:A:C p.(Ser643Arg) NC_000023.11:68064082:A:C p.(Ser643Arg) NC_000023.11:68064082:A:C Identity +NM_004501.3:c.1263_1264del NP_004492.2:p.Gly422fs NC_000001.11:244858183:CA: p.(Gly422ThrfsTer15) NC_000001.11:244858183:CA: p.(Gly422ThrfsTer15) NC_000001.11:244858183:CA: Analogous +NM_001178075.2:c.119C>T NP_001171546.1:p.Pro40Leu NC_000007.14:97868974:G:A p.(Pro40Leu) NC_000007.14:97868974:G:A p.(Pro40Leu) NC_000007.14:97868974:G:A Identity +NM_001080517.3:c.3167C>G NP_001073986.1:p.Ala1056Gly NC_000003.12:9470900:C:G p.(Ala1056Gly) NC_000003.12:9470900:C:G p.(Ala1056Gly) NC_000003.12:9470900:C:G Identity +NM_001365276.2:c.3046C>A NP_001352205.1:p.Leu1016Met NC_000006.12:32085851:G:T p.(Leu1016Met) NC_000006.12:32085851:G:T p.(Leu1016Met) NC_000006.12:32085851:G:T Identity +NM_001330209.2:c.2090C>A NP_001317138.1:p.Thr697Lys NC_000023.11:13760669:C:A p.(Thr697Lys) NC_000023.11:13760669:C:A p.(Thr697Lys) NC_000023.11:13760669:C:A Identity +NM_001164796.1:c.283G>T NP_001158268.1:p.Ala95Ser NC_000003.12:66362907:G:T p.(Ala95Ser) NC_000003.12:66362907:G:T p.(Ala95Ser) NC_000003.12:66362907:G:T Identity +NM_001283009.2:c.691G>T NP_001269938.1:p.Asp231Tyr NC_000020.11:63667544:G:T p.(Asp231Tyr) NC_000020.11:63667544:G:T p.(Asp231Tyr) NC_000020.11:63667544:G:T Identity +NM_001127178.3:c.56G>A NP_001120650.1:p.Gly19Glu NC_000004.12:499390:G:A p.(Gly19Glu) NC_000004.12:499390:G:A p.(Gly19Glu) NC_000004.12:499390:G:A Identity +NM_001371656.1:c.1422C>G NP_001358585.1:p.Ser474Arg NC_000006.12:156779101:C:G p.(Ser474Arg) NC_000006.12:156779101:C:G p.(Ser474Arg) NC_000006.12:156779101:C:G Identity +NM_001008537.3:c.4054A>C NP_001008537.1:p.Asn1352His NC_000023.11:74740502:T:G p.(Asn1352His) NC_000023.11:74740502:T:G p.(Asn1352His) NC_000023.11:74740502:T:G Identity +NM_000545.8:c.650C>G NP_000536.6:p.Ala217Gly NC_000012.12:120993642:C:G p.(Ala217Gly) NC_000012.12:120993642:C:G p.(Ala217Gly) NC_000012.12:120993642:C:G Identity +NM_001308007.2:c.1316G>A NP_001294936.1:p.Arg439Gln NC_000011.10:86278439:G:A p.(Arg439Gln) NC_000011.10:86278439:G:A p.(Arg439Gln) NC_000011.10:86278439:G:A Identity +NM_080473.5:c.122C>T NP_536721.1:p.Ser41Leu NC_000020.11:62475399:G:A p.(Ser41Leu) NC_000020.11:62475399:G:A p.(Ser41Leu) NC_000020.11:62475399:G:A Identity +NM_016148.5:c.5902del NP_057232.2:p.Ala1968fs NC_000019.10:50662548:CCCC:CCC p.(Ala1968ProfsTer165) NC_000019.10:50662548:CCCC:CCC p.(Ala1968ProfsTer165) NC_000019.10:50662548:C: Analogous +NM_001110556.2:c.7847T>C NP_001104026.1:p.Val2616Ala NC_000023.11:154348945:A:G p.(Val2616Ala) NC_000023.11:154348945:A:G p.(Val2616Ala) NC_000023.11:154348945:A:G Identity +NM_001007471.4:c.4225G>C NP_001007472.2:p.Glu1409Gln NC_000009.12:70536851:C:G p.(Glu1409Gln) NC_000009.12:70536851:C:G p.(Glu1409Gln) NC_000009.12:70536851:C:G Identity +NM_000103.4:c.916G>A NP_000094.2:p.Ala306Thr NC_000015.10:51215174:C:T p.(Ala306Thr) NC_000015.10:51215174:C:T p.(Ala306Thr) NC_000015.10:51215174:C:T Identity +NM_001170629.2:c.400C>T NP_001164100.1:p.Pro134Ser NC_000014.9:21431243:G:A p.(Pro134Ser) NC_000014.9:21431243:G:A p.(Pro134Ser) NC_000014.9:21431243:G:A Identity +NM_138691.3:c.1111T>C NP_619636.2:p.Phe371Leu NC_000009.12:72789203:T:C p.(Phe371Leu) NC_000009.12:72789203:T:C p.(Phe371Leu) NC_000009.12:72789203:T:C Identity +NM_001128844.3:c.1864G>C NP_001122316.1:p.Val622Leu NC_000019.10:11003079:G:C p.(Val622Leu) NC_000019.10:11003079:G:C p.(Val622Leu) NC_000019.10:11003079:G:C Identity +NM_001040439.2:c.2046C>G NP_001035529.1:p.Asn682Lys NC_000016.10:1764155:C:G p.(Asn682Lys) NC_000016.10:1764155:C:G p.(Asn682Lys) NC_000016.10:1764155:C:G Identity +NM_001394062.1:c.1795G>C NP_001380991.1:p.Glu599Gln NC_000001.11:39291918:G:C p.(Glu599Gln) NC_000001.11:39291918:G:C p.(Glu599Gln) NC_000001.11:39291918:G:C Identity +NM_014014.5:c.2068G>A NP_054733.2:p.Val690Met NC_000002.12:96293063:C:T p.(Val690Met) NC_000002.12:96293063:C:T p.(Val690Met) NC_000002.12:96293063:C:T Identity +NM_013242.3:c.257A>G NP_037374.1:p.Tyr86Cys NC_000016.10:58116059:T:C p.(Tyr86Cys) NC_000016.10:58116059:T:C p.(Tyr86Cys) NC_000016.10:58116059:T:C Identity +NM_001378454.1:c.6308_6318del NP_001365383.1:p.Ile2103fs NC_000002.12:73452833:ATTTTCAGTCCA:A p.(Ile2103ThrfsTer6) NC_000002.12:73452833:ATTTTCAGTCCA:A p.(Ile2103ThrfsTer6) NC_000002.12:73452834:TTTTCAGTCCA: Analogous +NM_002335.4:c.1736A>G NP_002326.2:p.Asp579Gly NC_000011.10:68403633:A:G p.(Asp579Gly) NC_000011.10:68403633:A:G p.(Asp579Gly) NC_000011.10:68403633:A:G Identity +NM_002292.4:c.1981G>A NP_002283.3:p.Asp661Asn NC_000003.12:49128494:C:T p.(Asp661Asn) NC_000003.12:49128494:C:T p.(Asp661Asn) NC_000003.12:49128494:C:T Identity +NM_006186.4:c.1118T>G NP_006177.1:p.Val373Gly NC_000002.12:156327890:A:C p.(Val373Gly) NC_000002.12:156327890:A:C p.(Val373Gly) NC_000002.12:156327890:A:C Identity +NM_001197104.2:c.265G>A NP_001184033.1:p.Ala89Thr NC_000011.10:118436776:G:A p.(Ala89Thr) NC_000011.10:118436776:G:A p.(Ala89Thr) NC_000011.10:118436776:G:A Identity +NM_001256850.1:c.96738dup NP_001243779.1:p.Leu32247fs NC_000002.12:178534953:TT:TTT p.(Leu32247IlefsTer6) NC_000002.12:178534953:TT:TTT p.(Leu32247IlefsTer6) ERR:SPDI Analogous +NM_001166695.3:c.188T>C NP_001160167.1:p.Ile63Thr NC_000005.10:36629455:T:C p.(Ile63Thr) NC_000005.10:36629455:T:C p.(Ile63Thr) NC_000005.10:36629455:T:C Identity +NM_001202464.3:c.394C>A NP_001189393.1:p.Pro132Thr NC_000010.11:237623:C:A p.(Pro132Thr) NC_000010.11:237623:C:A p.(Pro132Thr) NC_000010.11:237623:C:A Identity +NM_130471.3:c.2610G>T NP_569827.2:p.Gln870His NC_000011.10:47289415:G:T p.(Gln870His) NC_000011.10:47289415:G:T p.(Gln870His) NC_000011.10:47289415:G:T Identity +NM_016013.4:c.259A>G NP_057097.2:p.Arg87Gly NC_000015.10:41396800:T:C p.(Arg87Gly) NC_000015.10:41396800:T:C p.(Arg87Gly) NC_000015.10:41396800:T:C Identity +NM_001031725.6:c.1247A>G NP_001026895.2:p.Asn416Ser NC_000001.11:200650491:T:C p.(Asn416Ser) NC_000001.11:200650491:T:C p.(Asn416Ser) NC_000001.11:200650491:T:C Identity +NM_001288715.1:c.2614G>A NP_001275644.1:p.Val872Ile NC_000005.10:11022880:C:T p.(Val872Ile) NC_000005.10:11022880:C:T p.(Val872Ile) NC_000005.10:11022880:C:T Identity +NM_004961.4:c.1177C>T NP_004952.2:p.Arg393Cys NC_000023.11:151955044:G:A p.(Arg393Cys) NC_000023.11:151955044:G:A p.(Arg393Cys) NC_000023.11:151955044:G:A Identity +NM_001347839.2:c.4568A>G NP_001334768.1:p.Asp1523Gly NC_000012.12:45852690:A:G p.(Asp1523Gly) NC_000012.12:45852690:A:G p.(Asp1523Gly) NC_000012.12:45852690:A:G Identity +NM_001278529.2:c.625C>T NP_001265458.1:p.Arg209Trp NC_000014.9:21081634:C:T p.(Arg209Trp) NC_000014.9:21081634:C:T p.(Arg209Trp) NC_000014.9:21081634:C:T Identity +NM_057175.5:c.1493T>G NP_476516.1:p.Met498Arg NC_000004.12:139360581:T:G p.(Met498Arg) NC_000004.12:139360581:T:G p.(Met498Arg) NC_000004.12:139360581:T:G Identity +NM_014239.4:c.664A>G NP_055054.1:p.Ile222Val NC_000014.9:75005931:A:G p.(Ile222Val) NC_000014.9:75005931:A:G p.(Ile222Val) NC_000014.9:75005931:A:G Identity +NM_001363850.1:c.1781T>C NP_001350779.1:p.Val594Ala NC_000016.10:89552979:T:C p.(Val594Ala) NC_000016.10:89552979:T:C p.(Val594Ala) NC_000016.10:89552979:T:C Identity +NM_001112741.2:c.1595T>A NP_001106212.1:p.Leu532Gln NC_000011.10:17779545:T:A p.(Leu532Gln) NC_000011.10:17779545:T:A p.(Leu532Gln) NC_000011.10:17779545:T:A Identity +NM_001353345.2:c.141_142del NP_001340274.1:p.Tyr48fs NC_000012.12:121804876:TGT:T p.(Tyr48ProfsTer46) NC_000012.12:121804876:TGT:T p.(Tyr48ProfsTer46) NC_000012.12:121804877:GT: Analogous +NM_000296.4:c.3561C>G NP_000287.4:p.Tyr1187Ter NC_000016.10:2111605:G:C p.(Tyr1187Ter) NC_000016.10:2111605:G:C p.(Tyr1187Ter) NC_000016.10:2111605:G:C Identity +NM_001003694.2:c.3433C>T NP_001003694.1:p.Arg1145Ter NC_000003.12:9746407:C:T p.(Arg1145Ter) NC_000003.12:9746407:C:T p.(Arg1145Ter) NC_000003.12:9746407:C:T Identity +NM_000088.4:c.3209G>A NP_000079.2:p.Gly1070Asp NC_000017.11:50188147:C:T p.(Gly1070Asp) NC_000017.11:50188147:C:T p.(Gly1070Asp) NC_000017.11:50188147:C:T Identity +NM_001193416.3:c.488dup NP_001180345.1:p.Tyr163Ter NC_000023.11:41342780:A:AA p.(Tyr163Ter) NC_000023.11:41342780:A:AA p.(Tyr163Ter) ERR:SPDI Identity +NM_001025295.3:c.68C>T NP_001020466.1:p.Ala23Val NC_000011.10:299422:G:A p.(Ala23Val) NC_000011.10:299422:G:A p.(Ala23Val) NC_000011.10:299422:G:A Identity +NM_001173533.2:c.98G>A NP_001167004.1:p.Arg33His NC_000022.11:19068206:C:T p.(Arg33His) NC_000022.11:19068206:C:T p.(Arg33His) NC_000022.11:19068206:C:T Identity +NM_001040142.2:c.1058G>A NP_001035232.1:p.Cys353Tyr NC_000002.12:165313642:G:A p.(Cys353Tyr) NC_000002.12:165313642:G:A p.(Cys353Tyr) NC_000002.12:165313642:G:A Identity +NM_002653.5:c.158C>T NP_002644.4:p.Thr53Met NC_000005.10:135033723:G:A p.(Thr53Met) NC_000005.10:135033723:G:A p.(Thr53Met) NC_000005.10:135033723:G:A Identity +NM_001280545.2:c.166A>G NP_001267474.1:p.Ile56Val NC_000003.12:129466941:A:G p.(Ile56Val) NC_000003.12:129466941:A:G p.(Ile56Val) NC_000003.12:129466941:A:G Identity +NM_001127671.2:c.47A>G NP_001121143.1:p.Asp16Gly NC_000005.10:38530600:T:C p.(Asp16Gly) NC_000005.10:38530600:T:C p.(Asp16Gly) NC_000005.10:38530600:T:C Identity +NM_001321851.1:c.1732C>T NP_001308780.1:p.Gln578Ter NC_000014.9:92006240:G:A p.(Gln578Ter) NC_000014.9:92006240:G:A p.(Gln578Ter) NC_000014.9:92006240:G:A Identity +NM_001999.4:c.3456G>C NP_001990.2:p.Met1152Ile NC_000005.10:128338948:C:G p.(Met1152Ile) NC_000005.10:128338948:C:G p.(Met1152Ile) NC_000005.10:128338948:C:G Identity +NM_001365276.2:c.6694G>A NP_001352205.1:p.Asp2232Asn NC_000006.12:32064967:C:T p.(Asp2232Asn) NC_000006.12:32064967:C:T p.(Asp2232Asn) NC_000006.12:32064967:C:T Identity +NM_001164317.2:c.3008C>T NP_001157789.1:p.Thr1003Met NC_000003.12:58121384:C:T p.(Thr1003Met) NC_000003.12:58121384:C:T p.(Thr1003Met) NC_000003.12:58121384:C:T Identity +NM_000346.4:c.916G>T NP_000337.1:p.Val306Leu NC_000017.11:72123772:G:T p.(Val306Leu) NC_000017.11:72123772:G:T p.(Val306Leu) NC_000017.11:72123772:G:T Identity +NM_001135943.2:c.1943G>T NP_001129415.1:p.Cys648Phe NC_000011.10:47284257:G:T p.(Cys648Phe) NC_000011.10:47284257:G:T p.(Cys648Phe) NC_000011.10:47284257:G:T Identity +NM_001367624.2:c.2074C>A NP_001354553.1:p.His692Asn NC_000016.10:88429543:C:A p.(His692Asn) NC_000016.10:88429543:C:A p.(His692Asn) NC_000016.10:88429543:C:A Identity +NM_001367624.2:c.796G>A NP_001354553.1:p.Gly266Ser NC_000016.10:88428265:G:A p.(Gly266Ser) NC_000016.10:88428265:G:A p.(Gly266Ser) NC_000016.10:88428265:G:A Identity +NM_001169122.2:c.3290A>G NP_001162593.1:p.Glu1097Gly NC_000023.11:148973597:A:G p.(Glu1097Gly) NC_000023.11:148973597:A:G p.(Glu1097Gly) NC_000023.11:148973597:A:G Identity +NM_001083961.2:c.1667G>A NP_001077430.1:p.Ser556Asn NC_000019.10:36086710:G:A p.(Ser556Asn) NC_000019.10:36086710:G:A p.(Ser556Asn) NC_000019.10:36086710:G:A Identity +NM_020719.3:c.3286G>A NP_065770.1:p.Ala1096Thr NC_000019.10:49597620:G:A p.(Ala1096Thr) NC_000019.10:49597620:G:A p.(Ala1096Thr) NC_000019.10:49597620:G:A Identity +NM_020699.4:c.182_183del NP_065750.1:p.His61fs NC_000001.11:153828164:AT: p.(His61ArgfsTer15) NC_000001.11:153828164:AT: p.(His61ArgfsTer15) NC_000001.11:153828164:AT: Analogous +NM_001199397.3:c.894C>G NP_001186326.1:p.Asn298Lys NC_000004.12:169577053:G:C p.(Asn298Lys) NC_000004.12:169577053:G:C p.(Asn298Lys) NC_000004.12:169577053:G:C Identity +NM_001282368.2:c.1296del NP_001269297.1:p.Gly433fs NC_000006.12:75950855:T: p.(Gly433ValfsTer9) NC_000006.12:75950855:T: p.(Gly433ValfsTer9) NC_000006.12:75950855:T: Analogous +NM_001207014.3:c.370C>T NP_001193943.1:p.Arg124Cys NC_000011.10:75566718:C:T p.(Arg124Cys) NC_000011.10:75566718:C:T p.(Arg124Cys) NC_000011.10:75566718:C:T Identity +NM_001719.3:c.254A>T NP_001710.1:p.Asp85Val NC_000020.11:57265868:T:A p.(Asp85Val) NC_000020.11:57265868:T:A p.(Asp85Val) NC_000020.11:57265868:T:A Identity +NM_001013415.2:c.913G>A NP_001013433.1:p.Gly305Arg NC_000004.12:152328358:C:T p.(Gly305Arg) NC_000004.12:152328358:C:T p.(Gly305Arg) NC_000004.12:152328358:C:T Identity +NM_017934.7:c.1039G>A NP_060404.4:p.Val347Ile NC_000006.12:79017538:C:T p.(Val347Ile) NC_000006.12:79017538:C:T p.(Val347Ile) NC_000006.12:79017538:C:T Identity +NM_001384474.1:c.1951G>A NP_001371403.1:p.Val651Met NC_000018.10:46577725:C:T p.(Val651Met) NC_000018.10:46577725:C:T p.(Val651Met) NC_000018.10:46577725:C:T Identity +NM_000720.4:c.1492C>T NP_000711.1:p.Arg498Trp NC_000003.12:53718694:C:T p.(Arg498Trp) NC_000003.12:53718694:C:T p.(Arg498Trp) NC_000003.12:53718694:C:T Identity +NM_001042646.3:c.281A>T NP_001036111.1:p.Tyr94Phe NC_000003.12:42125608:A:T p.(Tyr94Phe) NC_000003.12:42125608:A:T p.(Tyr94Phe) NC_000003.12:42125608:A:T Identity +NM_000052.7:c.3816G>C NP_000043.4:p.Lys1272Asn NC_000023.11:78042598:G:C p.(Lys1272Asn) NC_000023.11:78042598:G:C p.(Lys1272Asn) NC_000023.11:78042598:G:C Identity +NM_001367624.2:c.8678C>T NP_001354553.1:p.Pro2893Leu NC_000016.10:88436147:C:T p.(Pro2893Leu) NC_000016.10:88436147:C:T p.(Pro2893Leu) NC_000016.10:88436147:C:T Identity +NM_000138.5:c.1220G>A NP_000129.3:p.Gly407Asp NC_000015.10:48516289:C:T p.(Gly407Asp) NC_000015.10:48516289:C:T p.(Gly407Asp) NC_000015.10:48516289:C:T Identity +NM_001376.5:c.1208A>T NP_001367.2:p.His403Leu NC_000014.9:101983264:A:T p.(His403Leu) NC_000014.9:101983264:A:T p.(His403Leu) NC_000014.9:101983264:A:T Identity +NM_000059.4:c.4997del NP_000050.3:p.Asn1666fs NC_000013.11:32339348:AAAA:AAA p.(Asn1666IlefsTer4) NC_000013.11:32339348:AAAA:AAA p.(Asn1666IlefsTer4) NC_000013.11:32339351:A: Analogous +NM_001284333.3:c.1655T>C NP_001271262.1:p.Leu552Pro NC_000017.11:62600688:T:C p.(Leu552Pro) NC_000017.11:62600688:T:C p.(Leu552Pro) NC_000017.11:62600688:T:C Identity +NM_001113378.2:c.3801_3804del NP_001106849.1:p.Ser1268fs NC_000015.10:89314689:CTTTCT:CT p.(Ser1268ArgfsTer5) NC_000015.10:89314689:CTTTCT:CT p.(Ser1268ArgfsTer5) NC_000015.10:89314691:TTCT: Analogous +NM_001172767.2:c.1342G>C NP_001166238.1:p.Val448Leu NC_000007.14:114654009:G:C p.(Val448Leu) NC_000007.14:114654009:G:C p.(Val448Leu) NC_000007.14:114654009:G:C Identity +NM_001202504.1:c.805G>A NP_001189433.1:p.Glu269Lys NC_000018.10:79714621:G:A p.(Glu269Lys) NC_000018.10:79714621:G:A p.(Glu269Lys) NC_000018.10:79714621:G:A Identity +NM_014727.3:c.8044C>T NP_055542.1:p.Arg2682Cys NC_000019.10:35738452:C:T p.(Arg2682Cys) NC_000019.10:35738452:C:T p.(Arg2682Cys) NC_000019.10:35738452:C:T Identity +NM_000214.3:c.771G>A NP_000205.1:p.Trp257Ter NC_000020.11:10652582:C:T p.(Trp257Ter) NC_000020.11:10652582:C:T p.(Trp257Ter) NC_000020.11:10652582:C:T Identity +NM_004667.6:c.12002C>T NP_004658.3:p.Thr4001Met NC_000015.10:28141444:G:A p.(Thr4001Met) NC_000015.10:28141444:G:A p.(Thr4001Met) NC_000015.10:28141444:G:A Identity +NM_000059.4:c.3440del NP_000050.3:p.Asn1147fs NC_000013.11:32337791:AAAA:AAA p.(Asn1147ThrfsTer3) NC_000013.11:32337791:AAAA:AAA p.(Asn1147ThrfsTer3) NC_000013.11:32337794:A: Analogous +NM_001368395.3:c.3793G>C NP_001355324.1:p.Gly1265Arg NC_000023.11:12718507:G:C p.(Gly1265Arg) NC_000023.11:12718507:G:C p.(Gly1265Arg) NC_000023.11:12718507:G:C Identity +NM_001172435.2:c.184T>A NP_001165906.1:p.Ser62Thr NC_000002.12:135091030:T:A p.(Ser62Thr) NC_000002.12:135091030:T:A p.(Ser62Thr) NC_000002.12:135091030:T:A Identity +NM_021133.4:c.1256C>A NP_066956.1:p.Thr419Lys NC_000001.11:182585550:G:T p.(Thr419Lys) NC_000001.11:182585550:G:T p.(Thr419Lys) NC_000001.11:182585550:G:T Identity +NM_000460.4:c.91C>T NP_000451.1:p.Arg31Ter NC_000003.12:184375937:G:A p.(Arg31Ter) NC_000003.12:184375937:G:A p.(Arg31Ter) NC_000003.12:184375937:G:A Identity +NM_001281771.3:c.730A>G NP_001268700.1:p.Met244Val NC_000020.11:47283647:T:C p.(Met244Val) NC_000020.11:47283647:T:C p.(Met244Val) NC_000020.11:47283647:T:C Identity +NM_001039590.3:c.7188dup NP_001034679.2:p.Asn2397Ter NC_000023.11:41229378:T:TT p.(Asn2397Ter) NC_000023.11:41229378:T:TT p.(Asn2397Ter) ERR:SPDI Identity +NM_006218.4:c.344G>T NP_006209.2:p.Arg115Leu NC_000003.12:179199168:G:T p.(Arg115Leu) NC_000003.12:179199168:G:T p.(Arg115Leu) NC_000003.12:179199168:G:T Identity +NM_014423.4:c.3256C>G NP_055238.1:p.Pro1086Ala NC_000005.10:132883447:G:C p.(Pro1086Ala) NC_000005.10:132883447:G:C p.(Pro1086Ala) NC_000005.10:132883447:G:C Identity +NM_001367624.2:c.6377G>A NP_001354553.1:p.Ser2126Asn NC_000016.10:88433846:G:A p.(Ser2126Asn) NC_000016.10:88433846:G:A p.(Ser2126Asn) NC_000016.10:88433846:G:A Identity +NM_001042494.2:c.1852C>G NP_001035959.1:p.Arg618Gly NC_000015.10:34243986:G:C p.(Arg618Gly) NC_000015.10:34243986:G:C p.(Arg618Gly) NC_000015.10:34243986:G:C Identity +NM_000165.5:c.457C>T NP_000156.1:p.Arg153Ter NC_000006.12:121447303:C:T p.(Arg153Ter) NC_000006.12:121447303:C:T p.(Arg153Ter) NC_000006.12:121447303:C:T Identity +NM_001124758.3:c.906G>A NP_001118230.1:p.Trp302Ter NC_000017.11:4532654:G:A p.(Trp302Ter) NC_000017.11:4532654:G:A p.(Trp302Ter) NC_000017.11:4532654:G:A Identity +NM_001197104.2:c.539G>C NP_001184033.1:p.Arg180Thr NC_000011.10:118471697:G:C p.(Arg180Thr) NC_000011.10:118471697:G:C p.(Arg180Thr) NC_000011.10:118471697:G:C Identity +NM_001287489.2:c.5461G>A NP_001274418.1:p.Glu1821Lys NC_000002.12:26461767:C:T p.(Glu1821Lys) NC_000002.12:26461767:C:T p.(Glu1821Lys) NC_000002.12:26461767:C:T Identity +NM_020791.4:c.166A>T NP_065842.1:p.Ile56Phe NC_000017.11:29467177:A:T p.(Ile56Phe) NC_000017.11:29467177:A:T p.(Ile56Phe) NC_000017.11:29467177:A:T Identity +NM_001184772.3:c.3227A>G NP_001171701.1:p.Gln1076Arg NC_000023.11:130015998:A:G p.(Gln1076Arg) NC_000023.11:130015998:A:G p.(Gln1076Arg) NC_000023.11:130015998:A:G Identity +NM_001177984.3:c.2753A>G NP_001171455.1:p.His918Arg NC_000012.12:51765878:A:G p.(His918Arg) NC_000012.12:51765878:A:G p.(His918Arg) NC_000012.12:51765878:A:G Identity +NM_001135040.3:c.1001C>G NP_001128512.1:p.Ala334Gly NC_000002.12:74370531:G:C p.(Ala334Gly) NC_000002.12:74370531:G:C p.(Ala334Gly) NC_000002.12:74370531:G:C Identity +NM_001320923.2:c.2198C>T NP_001307852.1:p.Pro733Leu NC_000001.11:64844806:G:A p.(Pro733Leu) NC_000001.11:64844806:G:A p.(Pro733Leu) NC_000001.11:64844806:G:A Identity +NM_001206897.2:c.481C>A NP_001193826.1:p.Gln161Lys NC_000015.10:57995088:G:T p.(Gln161Lys) NC_000015.10:57995088:G:T p.(Gln161Lys) NC_000015.10:57995088:G:T Identity +NM_001161482.1:c.1573dup NP_001154954.1:p.Asp525Glyfs NC_000010.11:248973:GG:GGG ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_002439.5:c.177_178insCCCCCAGC NP_002430.3:p.Ala60fs NC_000005.10:80654904::CCCCCAGC p.(Ala60ProfsTer23) NC_000005.10:80654903:G:CCCCCAGC p.(Ala60ProfsTer23) NC_000005.10:80654904:GG:CCCCCAGC Analogous +NM_000445.5:c.200G>A NP_000436.2:p.Arg67Gln NC_000008.11:143938685:C:T p.(Arg67Gln) NC_000008.11:143938685:C:T p.(Arg67Gln) NC_000008.11:143938685:C:T Identity +NM_001080424.2:c.4187_4189del NP_001073893.1:p.Phe1396del NC_000017.11:7851969:CTTCT:CT p.(Phe1396del) NC_000017.11:7851969:CTTCT:CT p.(Phe1396del) NC_000017.11:7851971:TCT: Identity +NM_001304458.2:c.226G>A NP_001291387.1:p.Gly76Arg NC_000004.12:147673647:C:T p.(Gly76Arg) NC_000004.12:147673647:C:T p.(Gly76Arg) NC_000004.12:147673647:C:T Identity +NM_000573.4:c.2529delA NP_000564.2:p.Gly844Alafs NC_000001.11:207565846:AAAA:AAA ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001321193.3:c.671G>A NP_001308122.1:p.Ser224Asn NC_000003.12:177050027:C:T p.(Ser224Asn) NC_000003.12:177050027:C:T p.(Ser224Asn) NC_000003.12:177050027:C:T Identity +NM_007123.6:c.401_402delinsA NP_009054.6:p.Ser134fs NC_000001.11:216421934:GC:T p.(Ser134AsnfsTer11) NC_000001.11:216421934:GC:T p.(Ser134AsnfsTer11) NC_000001.11:216421934:GC:T Analogous +NM_001178133.2:c.902_903del NP_001171604.1:p.Ser301fs NC_000010.11:102597280:CTCTCT:CTCT p.(Ser301TrpfsTer49) NC_000010.11:102597280:CTCTCT:CTCT p.(Ser301TrpfsTer49) NC_000010.11:102597284:CT: Analogous +NM_001244644.2:c.203T>C NP_001231573.1:p.Met68Thr NC_000003.12:87249878:T:C p.(Met68Thr) NC_000003.12:87249878:T:C p.(Met68Thr) NC_000003.12:87249878:T:C Identity +NM_001042475.3:c.1135G>A NP_001035940.1:p.Asp379Asn NC_000006.12:118523805:C:T p.(Asp379Asn) NC_000006.12:118523805:C:T p.(Asp379Asn) NC_000006.12:118523805:C:T Identity +NM_002745.5:c.956C>T NP_002736.3:p.Pro319Leu NC_000022.11:21772882:G:A p.(Pro319Leu) NC_000022.11:21772882:G:A p.(Pro319Leu) NC_000022.11:21772882:G:A Identity +NM_001190992.2:c.463A>G NP_001177921.1:p.Met155Val NC_000003.12:155853534:T:C p.(Met155Val) NC_000003.12:155853534:T:C p.(Met155Val) NC_000003.12:155853534:T:C Identity +NM_001316329.2:c.1790G>A NP_001303258.1:p.Arg597His NC_000019.10:53906341:G:A p.(Arg597His) NC_000019.10:53906341:G:A p.(Arg597His) NC_000019.10:53906341:G:A Identity +NM_001165963.4:c.2854T>A NP_001159435.1:p.Trp952Arg NC_000002.12:166037867:A:T p.(Trp952Arg) NC_000002.12:166037867:A:T p.(Trp952Arg) NC_000002.12:166037867:A:T Identity +NM_000248.4:c.1010G>T NP_000239.1:p.Cys337Phe NC_000003.12:69964997:G:T p.(Cys337Phe) NC_000003.12:69964997:G:T p.(Cys337Phe) NC_000003.12:69964997:G:T Identity +NM_001193416.3:c.431A>G NP_001180345.1:p.Glu144Gly NC_000023.11:41342640:A:G p.(Glu144Gly) NC_000023.11:41342640:A:G p.(Glu144Gly) NC_000023.11:41342640:A:G Identity +NM_001283009.2:c.3874del NP_001269938.1:p.Met1292fs NC_000020.11:63695828:A: p.(Met1292CysfsTer72) NC_000020.11:63695828:A: p.(Met1292CysfsTer72) NC_000020.11:63695828:A: Analogous +NM_022436.3:c.64C>T NP_071881.1:p.Gln22Ter NC_000002.12:43838615:G:A p.(Gln22Ter) NC_000002.12:43838615:G:A p.(Gln22Ter) NC_000002.12:43838615:G:A Identity +NM_002887.4:c.19G>C NP_002878.2:p.Glu7Gln NC_000005.10:168486516:G:C p.(Glu7Gln) NC_000005.10:168486516:G:C p.(Glu7Gln) NC_000005.10:168486516:G:C Identity +NM_000048.4:c.1175G>A NP_000039.2:p.Gly392Glu NC_000007.14:66092587:G:A p.(Gly392Glu) NC_000007.14:66092587:G:A p.(Gly392Glu) NC_000007.14:66092587:G:A Identity +NM_000264.5:c.1347G>A NP_000255.2:p.Met449Ile NC_000009.12:95478054:C:T p.(Met449Ile) NC_000009.12:95478054:C:T p.(Met449Ile) NC_000009.12:95478054:C:T Identity +NM_001169122.2:c.3634G>A NP_001162593.1:p.Val1212Ile NC_000023.11:148987481:G:A p.(Val1212Ile) NC_000023.11:148987481:G:A p.(Val1212Ile) NC_000023.11:148987481:G:A Identity +NM_020719.3:c.317C>T NP_065770.1:p.Ala106Val NC_000019.10:49594570:C:T p.(Ala106Val) NC_000019.10:49594570:C:T p.(Ala106Val) NC_000019.10:49594570:C:T Identity +NM_001353765.2:c.334G>C NP_001340694.1:p.Val112Leu NC_000002.12:29220812:C:G p.(Val112Leu) NC_000002.12:29220812:C:G p.(Val112Leu) NC_000002.12:29220812:C:G Identity +NM_001374425.1:c.587del NP_001361354.1:p.Thr196fs NC_000001.11:2408464:G: p.(Thr196ArgfsTer7) NC_000001.11:2408464:G: p.(Thr196ArgfsTer7) NC_000001.11:2408464:G: Analogous +NM_000492.4:c.4264C>T NP_000483.3:p.Arg1422Trp NC_000007.14:117666928:C:T p.(Arg1422Trp) NC_000007.14:117666928:C:T p.(Arg1422Trp) NC_000007.14:117666928:C:T Identity +NM_001371986.1:c.8008C>T NP_001358915.1:p.Arg2670Ter NC_000002.12:209969768:C:T p.(Arg2670Ter) NC_000002.12:209969768:C:T p.(Arg2670Ter) NC_000002.12:209969768:C:T Identity +NM_031475.3:c.1682G>A NP_113663.2:p.Arg561His NC_000001.11:6448857:G:A p.(Arg561His) NC_000001.11:6448857:G:A p.(Arg561His) NC_000001.11:6448857:G:A Identity +NM_001128166.3:c.1520G>A NP_001121638.1:p.Arg507Gln NC_000023.11:111216532:G:A p.(Arg507Gln) NC_000023.11:111216532:G:A p.(Arg507Gln) NC_000023.11:111216532:G:A Identity +NM_004108.3:c.932G>A NP_004099.2:p.Arg311Gln NC_000009.12:134887404:G:A p.(Arg311Gln) NC_000009.12:134887404:G:A p.(Arg311Gln) NC_000009.12:134887404:G:A Identity +NM_016941.4:c.1339_1340insT NP_058637.1:p.His447fs NC_000019.10:39507284::T p.(His447LeufsTer19) NC_000019.10:39507283:C:T p.(His447LeufsTer19) NC_000019.10:39507284:CA:T Analogous +NM_001388308.1:c.430del NP_001375237.1:p.Ala144fs NC_000009.12:114097686:C: p.(Ala144ProfsTer32) NC_000009.12:114097686:C: p.(Ala144ProfsTer32) NC_000009.12:114097686:C: Analogous +NM_001382235.1:c.1603C>G NP_001369164.1:p.Arg535Gly NC_000020.11:63413555:G:C p.(Arg535Gly) NC_000020.11:63413555:G:C p.(Arg535Gly) NC_000020.11:63413555:G:C Identity +NM_001393769.1:c.680T>G NP_001380698.1:p.Met227Arg NC_000003.12:151156283:T:G p.(Met227Arg) NC_000003.12:151156283:T:G p.(Met227Arg) NC_000003.12:151156283:T:G Identity +NM_000078.3:c.1103del NP_000069.2:p.Pro368fs NC_000016.10:56978210:CC:C p.(Pro368HisfsTer9) NC_000016.10:56978210:CC:C p.(Pro368HisfsTer9) NC_000016.10:56978211:C: Analogous +NM_001316329.2:c.1571C>G NP_001303258.1:p.Pro524Arg NC_000019.10:53900744:C:G p.(Pro524Arg) NC_000019.10:53900744:C:G p.(Pro524Arg) NC_000019.10:53900744:C:G Identity +NM_000441.2:c.346G>A NP_000432.1:p.Gly116Ser NC_000007.14:107672178:G:A p.(Gly116Ser) NC_000007.14:107672178:G:A p.(Gly116Ser) NC_000007.14:107672178:G:A Identity +NM_000548.5:c.2265del NP_000539.2:p.Gly756fs NC_000016.10:2072891:AA:A p.(Gly756AlafsTer15) NC_000016.10:2072891:AA:A p.(Gly756AlafsTer15) NC_000016.10:2072892:A: Analogous +NM_004463.3:c.2656A>T NP_004454.2:p.Arg886Ter NC_000023.11:54446338:T:A p.(Arg886Ter) NC_000023.11:54446338:T:A p.(Arg886Ter) NC_000023.11:54446338:T:A Identity +NM_025009.5:c.3129_3132del NP_079285.2:p.Lys1043fs NC_000004.12:56019466:AAAGAA:AA p.(Lys1043AsnfsTer6) NC_000004.12:56019466:AAAGAA:AA p.(Lys1043AsnfsTer6) NC_000004.12:56019468:AGAA: Analogous +NM_001347839.2:c.3643C>T NP_001334768.1:p.Gln1215Ter NC_000012.12:45851765:C:T p.(Gln1215Ter) NC_000012.12:45851765:C:T p.(Gln1215Ter) NC_000012.12:45851765:C:T Identity +NM_000020.3:c.667G>C NP_000011.2:p.Gly223Arg NC_000012.12:51914479:G:C p.(Gly223Arg) NC_000012.12:51914479:G:C p.(Gly223Arg) NC_000012.12:51914479:G:C Identity +NM_017587.2:c.85G>T NP_060057.2:p.Gly29Ter NC_000009.12:133422527:G:T ERR:Data provider error: ValueError: Transcript NM_017587.2 not found ERR:Data provider error: ValueError: Transcript NM_017587.2 not found ERR:AlignmentMapper(tx_ac=NM_017587.2, alt_ac=NM_017587.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_017587.2, alt_ac=NM_017587.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_017587.2 not found +NM_001286216.2:c.391C>T NP_001273145.1:p.Arg131Ter NC_000006.12:43625412:G:A p.(Arg131Ter) NC_000006.12:43625412:G:A p.(Arg131Ter) NC_000006.12:43625412:G:A Identity +NM_001126105.3:c.737A>G NP_001119577.1:p.Asn246Ser NC_000014.9:22778825:T:C p.(Asn246Ser) NC_000014.9:22778825:T:C p.(Asn246Ser) NC_000014.9:22778825:T:C Identity +NM_000019.4:c.433C>T NP_000010.1:p.Gln145Ter NC_000011.10:108135239:C:T p.(Gln145Ter) NC_000011.10:108135239:C:T p.(Gln145Ter) NC_000011.10:108135239:C:T Identity +NM_000296.4:c.6813_6814del NP_000287.4:p.Arg2272fs NC_000016.10:2108352:GTGTGT:GTGT p.(Arg2272GlyfsTer147) NC_000016.10:2108352:GTGTGT:GTGT p.(Arg2272GlyfsTer147) NC_000016.10:2108352:GT: Analogous +NM_001165963.4:c.4244T>G NP_001159435.1:p.Phe1415Cys NC_000002.12:166002511:A:C p.(Phe1415Cys) NC_000002.12:166002511:A:C p.(Phe1415Cys) NC_000002.12:166002511:A:C Identity +NM_001018056.3:c.376C>T NP_001018066.1:p.Gln126Ter NC_000009.12:2641426:C:T p.(Gln126Ter) NC_000009.12:2641426:C:T p.(Gln126Ter) NC_000009.12:2641426:C:T Identity +NM_000296.4:c.9382T>A NP_000287.4:p.Trp3128Arg NC_000016.10:2102075:A:T p.(Trp3128Arg) NC_000016.10:2102075:A:T p.(Trp3128Arg) NC_000016.10:2102075:A:T Identity +NM_000129.4:c.1503C>A NP_000120.2:p.Tyr501Ter NC_000006.12:6174823:G:T p.(Tyr501Ter) NC_000006.12:6174823:G:T p.(Tyr501Ter) NC_000006.12:6174823:G:T Identity +NM_001290787.2:c.1199A>C NP_001277716.1:p.Tyr400Ser NC_000002.12:232484208:T:G p.(Tyr400Ser) NC_000002.12:232484208:T:G p.(Tyr400Ser) NC_000002.12:232484208:T:G Identity +NM_001372233.1:c.2168A>G NP_001359162.1:p.His723Arg NC_000005.10:114487128:A:G p.(His723Arg) NC_000005.10:114487128:A:G p.(His723Arg) NC_000005.10:114487128:A:G Identity +NM_000094.4:c.1606C>T NP_000085.1:p.Gln536Ter NC_000003.12:48591493:G:A p.(Gln536Ter) NC_000003.12:48591493:G:A p.(Gln536Ter) NC_000003.12:48591493:G:A Identity +NM_005797.4:c.68del NP_005788.1:p.Pro23fs NC_000011.10:118263087:GG:G p.(Pro23LeufsTer2) NC_000011.10:118263087:GG:G p.(Pro23LeufsTer2) NC_000011.10:118263087:G: Analogous +NM_004944.4:c.307G>C NP_004935.1:p.Ala103Pro NC_000003.12:58205483:C:G p.(Ala103Pro) NC_000003.12:58205483:C:G p.(Ala103Pro) NC_000003.12:58205483:C:G Identity +NM_000271.5:c.532G>A NP_000262.2:p.Gly178Arg NC_000018.10:23561458:C:T p.(Gly178Arg) NC_000018.10:23561458:C:T p.(Gly178Arg) NC_000018.10:23561458:C:T Identity +NM_003551.3:c.415del NP_003542.1:p.Ile139fs NC_000005.10:138128499:TTT:TT p.(Ile139TyrfsTer8) NC_000005.10:138128499:TTT:TT p.(Ile139TyrfsTer8) NC_000005.10:138128499:T: Analogous +NM_001127892.2:c.937G>T NP_001121364.1:p.Gly313Ter NC_000016.10:51140993:C:A p.(Gly313Ter) NC_000016.10:51140993:C:A p.(Gly313Ter) NC_000016.10:51140993:C:A Identity +NM_001415.4:c.139A>G NP_001406.1:p.Ile47Val NC_000023.11:24057425:A:G p.(Ile47Val) NC_000023.11:24057425:A:G p.(Ile47Val) NC_000023.11:24057425:A:G Identity +NM_001001331.4:c.1866G>T NP_001001331.1:p.Met622Ile NC_000003.12:10359916:C:A p.(Met622Ile) NC_000003.12:10359916:C:A p.(Met622Ile) NC_000003.12:10359916:C:A Identity +NM_003906.5:c.2861T>C NP_003897.2:p.Ile954Thr NC_000021.9:46266094:A:G p.(Ile954Thr) NC_000021.9:46266094:A:G p.(Ile954Thr) NC_000021.9:46266094:A:G Identity +NM_001394062.1:c.22388C>A NP_001380991.1:p.Thr7463Lys NC_000001.11:39484706:C:A p.(Thr7463Lys) NC_000001.11:39484706:C:A p.(Thr7463Lys) NC_000001.11:39484706:C:A Identity +NM_001315529.2:c.410G>A NP_001302458.1:p.Ser137Asn NC_000021.9:46346785:G:A p.(Ser137Asn) NC_000021.9:46346785:G:A p.(Ser137Asn) NC_000021.9:46346785:G:A Identity +NM_020745.4:c.1565C>G NP_065796.2:p.Pro522Arg NC_000006.12:44305067:G:C p.(Pro522Arg) NC_000006.12:44305067:G:C p.(Pro522Arg) NC_000006.12:44305067:G:C Identity +NM_001206999.2:c.4783C>T NP_001193928.1:p.Arg1595Cys NC_000012.12:119712248:G:A p.(Arg1595Cys) NC_000012.12:119712248:G:A p.(Arg1595Cys) NC_000012.12:119712248:G:A Identity +NM_032888.4:c.5189C>T NP_116277.2:p.Thr1730Met NC_000009.12:114307749:C:T p.(Thr1730Met) NC_000009.12:114307749:C:T p.(Thr1730Met) NC_000009.12:114307749:C:T Identity +NM_001287819.3:c.442G>C NP_001274748.1:p.Val148Leu NC_000001.11:196469010:C:G p.(Val148Leu) NC_000001.11:196469010:C:G p.(Val148Leu) NC_000001.11:196469010:C:G Identity +NM_001411020.1:c.1831G>A NP_001397949.1:p.Glu611Lys NC_000014.9:50158568:C:T p.(Glu611Lys) NC_000014.9:50158568:C:T p.(Glu611Lys) NC_000014.9:50158568:C:T Identity +NM_001366177.2:c.7618C>T NP_001353106.1:p.Arg2540Ter NC_000001.11:155347855:G:A p.(Arg2540Ter) NC_000001.11:155347855:G:A p.(Arg2540Ter) NC_000001.11:155347855:G:A Identity +NM_001346813.1:c.1213_1217delTTCGC NP_001333742.1:p.Phe405Argfs NC_000006.12:156779138:CGCTTCGC:CGC ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001193416.3:c.1487T>G NP_001180345.1:p.Val496Gly NC_000023.11:41346399:T:G p.(Val496Gly) NC_000023.11:41346399:T:G p.(Val496Gly) NC_000023.11:41346399:T:G Identity +NM_000214.3:c.699_700del NP_000205.1:p.Ile233fs NC_000020.11:10656452:AAA:A p.(Ile233MetfsTer8) NC_000020.11:10656452:AAA:A p.(Ile233MetfsTer8) NC_000020.11:10656452:AA: Analogous +NM_001826.3:c.51del NP_001817.1:p.Phe17fs NC_000001.11:154974793:TTT:TT p.(Phe17LeufsTer12) NC_000001.11:154974793:TTT:TT p.(Phe17LeufsTer12) NC_000001.11:154974795:T: Analogous +NM_001320580.2:c.2005C>T NP_001307509.1:p.Arg669Trp NC_000003.12:49032663:G:A p.(Arg669Trp) NC_000003.12:49032663:G:A p.(Arg669Trp) NC_000003.12:49032663:G:A Identity +NM_005245.4:c.4961G>A NP_005236.2:p.Arg1654His NC_000004.12:186621624:C:T p.(Arg1654His) NC_000004.12:186621624:C:T p.(Arg1654His) NC_000004.12:186621624:C:T Identity +NM_001122955.4:c.634A>G NP_001116427.1:p.Met212Val NC_000011.10:62692793:T:C p.(Met212Val) NC_000011.10:62692793:T:C p.(Met212Val) NC_000011.10:62692793:T:C Identity +NM_001354263.2:c.3224G>C NP_001341192.1:p.Cys1075Ser NC_000009.12:137814494:G:C p.(Cys1075Ser) NC_000009.12:137814494:G:C p.(Cys1075Ser) NC_000009.12:137814494:G:C Identity +NM_001321978.2:c.47C>T NP_001308907.1:p.Pro16Leu NC_000010.11:26697757:C:T p.(Pro16Leu) NC_000010.11:26697757:C:T p.(Pro16Leu) NC_000010.11:26697757:C:T Identity +NM_001039671.3:c.796_816delinsAGACGCAG NP_001034760.1:p.Pro266fs NC_000019.10:38305435:GTTCCGGGCCCCACGCACCGG:CTGCGTCT p.(Pro266GlnfsTer9) NC_000019.10:38305434:GGTTCCGGGCCCCACGCACCGGG:GGCTGCGTCT p.(Pro266ArgfsTer9) NC_000019.10:38305435:GTTCCGGGCCCCACGCACCGG:CTGCGTCT Analogous +NM_001370598.1:c.2468C>G NP_001357527.1:p.Pro823Arg NC_000012.12:111320662:C:G p.(Pro823Arg) NC_000012.12:111320662:C:G p.(Pro823Arg) NC_000012.12:111320662:C:G Identity +NM_000441.2:c.154A>G NP_000432.1:p.Lys52Glu NC_000007.14:107661794:A:G p.(Lys52Glu) NC_000007.14:107661794:A:G p.(Lys52Glu) NC_000007.14:107661794:A:G Identity +NM_001135651.3:c.362G>T NP_001129123.1:p.Cys121Phe NC_000002.12:37141579:C:A p.(Cys121Phe) NC_000002.12:37141579:C:A p.(Cys121Phe) NC_000002.12:37141579:C:A Identity +NM_000091.5:c.2562A>C NP_000082.2:p.Glu854Asp NC_000002.12:227282437:A:C p.(Glu854Asp) NC_000002.12:227282437:A:C p.(Glu854Asp) NC_000002.12:227282437:A:C Identity +NM_015335.5:c.785A>G NP_056150.1:p.Asp262Gly NC_000012.12:116019812:T:C p.(Asp262Gly) NC_000012.12:116019812:T:C p.(Asp262Gly) NC_000012.12:116019812:T:C Identity +NM_001142864.4:c.1381C>T NP_001136336.2:p.Gln461Ter NC_000016.10:88736323:G:A p.(Gln461Ter) NC_000016.10:88736323:G:A p.(Gln461Ter) NC_000016.10:88736323:G:A Identity +NM_001308122.2:c.1072C>G NP_001295051.1:p.Leu358Val NC_000005.10:132388968:C:G p.(Leu358Val) NC_000005.10:132388968:C:G p.(Leu358Val) NC_000005.10:132388968:C:G Identity +NM_001320759.2:c.995A>G NP_001307688.1:p.Gln332Arg NC_000017.11:18292645:T:C p.(Gln332Arg) NC_000017.11:18292645:T:C p.(Gln332Arg) NC_000017.11:18292645:T:C Identity +NM_001177998.2:c.1631T>C NP_001171469.2:p.Phe544Ser NC_000004.12:25676309:T:C p.(Phe544Ser) NC_000004.12:25676309:T:C p.(Phe544Ser) NC_000004.12:25676309:T:C Identity +NM_001079846.1:c.4604A>G NP_001073315.1:p.Glu1535Gly NC_000016.10:3736045:T:C p.(Glu1535Gly) NC_000016.10:3736045:T:C p.(Glu1535Gly) NC_000016.10:3736045:T:C Identity +NM_170606.3:c.10360T>C NP_733751.2:p.Tyr3454His NC_000007.14:152163216:A:G p.(Tyr3454His) NC_000007.14:152163216:A:G p.(Tyr3454His) NC_000007.14:152163216:A:G Identity +NM_001291860.2:c.1189C>T NP_001278789.1:p.Arg397Trp NC_000001.11:21885340:G:A p.(Arg397Trp) NC_000001.11:21885340:G:A p.(Arg397Trp) NC_000001.11:21885340:G:A Identity +NM_025114.4:c.143_144del NP_079390.3:p.Val48fs NC_000012.12:88140991:CACA:CA p.(Val48AspfsTer36) NC_000012.12:88140991:CACA:CA p.(Val48AspfsTer36) NC_000012.12:88140991:CA: Analogous +NM_001353345.2:c.4160C>A NP_001340274.1:p.Pro1387His NC_000012.12:121822738:C:A p.(Pro1387His) NC_000012.12:121822738:C:A p.(Pro1387His) NC_000012.12:121822738:C:A Identity +NM_001256105.1:c.363dup NP_001243034.1:p.Phe122fs NC_000003.12:55474612:GG:GGG p.(Phe122LeufsTer99) NC_000003.12:55474612:GG:GGG p.(Phe122LeufsTer99) ERR:SPDI Analogous +NM_001363823.2:c.183C>G NP_001350752.1:p.Phe61Leu NC_000002.12:32064013:C:G p.(Phe61Leu) NC_000002.12:32064013:C:G p.(Phe61Leu) NC_000002.12:32064013:C:G Identity +NM_001317964.2:c.2978A>G NP_001304893.1:p.Lys993Arg NC_000005.10:146122567:T:C p.(Lys993Arg) NC_000005.10:146122567:T:C p.(Lys993Arg) NC_000005.10:146122567:T:C Identity +NM_001039141.3:c.5996A>G NP_001034230.1:p.Glu1999Gly NC_000022.11:37757920:A:G p.(Glu1999Gly) NC_000022.11:37757920:A:G p.(Glu1999Gly) NC_000022.11:37757920:A:G Identity +NM_000338.3:c.572T>A NP_000329.2:p.Ile191Asn NC_000015.10:48220939:T:A p.(Ile191Asn) NC_000015.10:48220939:T:A p.(Ile191Asn) NC_000015.10:48220939:T:A Identity +NM_001347997.2:c.388G>C NP_001334926.1:p.Val130Leu NC_000009.12:106924299:G:C p.(Val130Leu) NC_000009.12:106924299:G:C p.(Val130Leu) NC_000009.12:106924299:G:C Identity +NM_133638.6:c.1984C>T NP_598377.4:p.Arg662Ter NC_000005.10:129647875:C:T p.(Arg662Ter) NC_000005.10:129647875:C:T p.(Arg662Ter) NC_000005.10:129647875:C:T Identity +NM_001304811.2:c.1168_1169delinsC NP_001291740.1:p.Gly390fs NC_000012.12:4505373:CC:G p.(Gly390GlnfsTer19) NC_000012.12:4505373:CC:G p.(Gly390GlnfsTer19) NC_000012.12:4505373:CC:G Analogous +NM_001330358.2:c.1160C>G NP_001317287.1:p.Pro387Arg NC_000001.11:11794857:G:C p.(Pro387Arg) NC_000001.11:11794857:G:C p.(Pro387Arg) NC_000001.11:11794857:G:C Identity +NM_001111034.3:c.772A>C NP_001104504.1:p.Ser258Arg NC_000019.10:11575215:T:G p.(Ser258Arg) NC_000019.10:11575215:T:G p.(Ser258Arg) NC_000019.10:11575215:T:G Identity +NM_000321.3:c.160G>T NP_000312.2:p.Glu54Ter NC_000013.11:48307301:G:T p.(Glu54Ter) NC_000013.11:48307301:G:T p.(Glu54Ter) NC_000013.11:48307301:G:T Identity +NM_006734.4:c.4634C>T NP_006725.3:p.Ser1545Phe NC_000006.12:142770104:G:A p.(Ser1545Phe) NC_000006.12:142770104:G:A p.(Ser1545Phe) NC_000006.12:142770104:G:A Identity +NM_006516.4:c.484C>G NP_006507.2:p.Leu162Val NC_000001.11:42930657:G:C p.(Leu162Val) NC_000001.11:42930657:G:C p.(Leu162Val) NC_000001.11:42930657:G:C Identity +NM_020231.3:c.170A>G NP_064616.2:p.Tyr57Cys NC_000003.12:119469903:A:G ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020231.3 not found +NM_001166247.1:c.1790C>G NP_001159719.1:p.Pro597Arg NC_000006.12:101924641:C:G p.(Pro597Arg) NC_000006.12:101924641:C:G p.(Pro597Arg) NC_000006.12:101924641:C:G Identity +NM_000495.5:c.219_226del NP_000486.1:p.Arg74fs NC_000023.11:108559139:CTCGGGGAC:C p.(Arg74LysfsTer3) NC_000023.11:108559139:CTCGGGGAC:C p.(Arg74LysfsTer3) NC_000023.11:108559140:TCGGGGAC: Analogous +NM_001321099.2:c.1643C>T NP_001308028.1:p.Pro548Leu NC_000002.12:196846002:G:A p.(Pro548Leu) NC_000002.12:196846002:G:A p.(Pro548Leu) NC_000002.12:196846002:G:A Identity +NM_001277269.2:c.5230C>T NP_001264198.1:p.Gln1744Ter NC_000011.10:17610493:C:T p.(Gln1744Ter) NC_000011.10:17610493:C:T p.(Gln1744Ter) NC_000011.10:17610493:C:T Identity +NM_001083961.2:c.1393G>A NP_001077430.1:p.Val465Met NC_000019.10:36083083:G:A p.(Val465Met) NC_000019.10:36083083:G:A p.(Val465Met) NC_000019.10:36083083:G:A Identity +NM_000328.3:c.1225del NP_000319.1:p.Arg409fs NC_000023.11:38298975:G: p.(Arg409ValfsTer16) NC_000023.11:38298975:G: p.(Arg409ValfsTer16) NC_000023.11:38298975:G: Analogous +NM_001256324.2:c.866G>A NP_001243253.1:p.Arg289His NC_000017.11:50572672:G:A p.(Arg289His) NC_000017.11:50572672:G:A p.(Arg289His) NC_000017.11:50572672:G:A Identity +NM_003816.3:c.1616del NP_003807.1:p.Cys539fs NC_000008.11:39071321:G: p.(Cys539PhefsTer5) NC_000008.11:39071321:G: p.(Cys539PhefsTer5) NC_000008.11:39071321:G: Analogous +NM_001370135.1:c.315_316del NP_001357064.1:p.Gln105fs NC_000010.11:75020609:AG: p.(Gln105HisfsTer5) NC_000010.11:75020609:AG: p.(Gln105HisfsTer5) NC_000010.11:75020609:AG: Analogous +NM_001256850.1:c.76297G>A NP_001243779.1:p.Gly25433Arg NC_000002.12:178564911:C:T p.(Gly25433Arg) NC_000002.12:178564911:C:T p.(Gly25433Arg) NC_000002.12:178564911:C:T Identity +NM_001206696.2:c.667C>T NP_001193625.1:p.Gln223Ter NC_000001.11:209790602:G:A p.(Gln223Ter) NC_000001.11:209790602:G:A p.(Gln223Ter) NC_000001.11:209790602:G:A Identity +NM_003128.3:c.546G>T NP_003119.2:p.Trp182Cys NC_000002.12:54616277:G:T p.(Trp182Cys) NC_000002.12:54616277:G:T p.(Trp182Cys) NC_000002.12:54616277:G:T Identity +NM_001170629.2:c.5581C>G NP_001164100.1:p.Pro1861Ala NC_000014.9:21394294:G:C p.(Pro1861Ala) NC_000014.9:21394294:G:C p.(Pro1861Ala) NC_000014.9:21394294:G:C Identity +NM_000092.5:c.4372T>C NP_000083.3:p.Phe1458Leu NC_000002.12:227010462:A:G p.(Phe1458Leu) NC_000002.12:227010462:A:G p.(Phe1458Leu) NC_000002.12:227010462:A:G Identity +NM_000218.3:c.514_524dup NP_000209.2:p.Gly179fs NC_000011.10:2570663:GTGGTCCGCCT:GTGGTCCGCCTGTGGTCCGCCT p.(Gly179SerfsTer62) NC_000011.10:2570663:GTGGTCCGCCT:GTGGTCCGCCTGTGGTCCGCCT p.(Gly179SerfsTer62) ERR:SPDI Analogous +NM_000051.4:c.3569del NP_000042.3:p.Val1190fs NC_000011.10:108281160:T: p.(Val1190GlyfsTer5) NC_000011.10:108281160:T: p.(Val1190GlyfsTer5) NC_000011.10:108281160:T: Analogous +NM_001273.5:c.4160C>T NP_001264.2:p.Pro1387Leu NC_000012.12:6582923:G:A p.(Pro1387Leu) NC_000012.12:6582923:G:A p.(Pro1387Leu) NC_000012.12:6582923:G:A Identity +NM_001197181.2:c.1055A>C NP_001184110.1:p.Gln352Pro NC_000016.10:89935721:A:C p.(Gln352Pro) NC_000016.10:89935721:A:C p.(Gln352Pro) NC_000016.10:89935721:A:C Identity +NM_014271.4:c.746A>G NP_055086.1:p.Glu249Gly NC_000023.11:29668471:A:G p.(Glu249Gly) NC_000023.11:29668471:A:G p.(Glu249Gly) NC_000023.11:29668471:A:G Identity +NM_001271.4:c.4553A>G NP_001262.3:p.Lys1518Arg NC_000015.10:93009283:A:G p.(Lys1518Arg) NC_000015.10:93009283:A:G p.(Lys1518Arg) NC_000015.10:93009283:A:G Identity +NM_001407571.1:c.3515G>C NP_001394500.1:p.Arg1172Thr NC_000017.11:43091802:C:G p.(Arg1172Thr) NC_000017.11:43091802:C:G p.(Arg1172Thr) NC_000017.11:43091802:C:G Identity +NM_001244580.2:c.455A>G NP_001231509.1:p.His152Arg NC_000007.14:98895767:A:G p.(His152Arg) NC_000007.14:98895767:A:G p.(His152Arg) NC_000007.14:98895767:A:G Identity +NM_024884.3:c.368A>G NP_079160.1:p.Tyr123Cys NC_000014.9:50302056:T:C p.(Tyr123Cys) NC_000014.9:50302056:T:C p.(Tyr123Cys) NC_000014.9:50302056:T:C Identity +NM_021224.6:c.3292_3293insGGCCCCCCCCCCCCCCCCC NP_067047.4:p.Ser1098fs NC_000009.12:106927204::GGCCCCCCCCCCCCCCCCC p.(Ser1098TrpfsTer21) NC_000009.12:106927203:T:GGCCCCCCCCCCCCCCCCC p.(Ser1098TrpfsTer21) NC_000009.12:106927204:TC:GGCCCCCCCCCCCCCCCCC Analogous +NM_001008537.3:c.3867C>A NP_001008537.1:p.Ser1289Arg NC_000023.11:74740689:G:T p.(Ser1289Arg) NC_000023.11:74740689:G:T p.(Ser1289Arg) NC_000023.11:74740689:G:T Identity +NM_001146702.2:c.2273G>A NP_001140174.1:p.Cys758Tyr NC_000023.11:53198531:C:T p.(Cys758Tyr) NC_000023.11:53198531:C:T p.(Cys758Tyr) NC_000023.11:53198531:C:T Identity +NM_002667.5:c.63_64del NP_002658.1:p.Gln22fs NC_000006.12:118558982:CTC:C p.(Gln22ThrfsTer38) NC_000006.12:118558982:CTC:C p.(Gln22ThrfsTer38) NC_000006.12:118558983:TC: Analogous +NM_001165928.4:c.721_722del NP_001159400.3:p.Phe241fs NC_000003.12:49531231:TT: p.(Phe241HisfsTer32) NC_000003.12:49531231:TT: p.(Phe241HisfsTer32) NC_000003.12:49531231:TT: Analogous +NM_000503.6:c.520C>T NP_000494.2:p.Gln174Ter NC_000008.11:71317587:G:A p.(Gln174Ter) NC_000008.11:71317587:G:A p.(Gln174Ter) NC_000008.11:71317587:G:A Identity +NM_001145527.2:c.294_297del NP_001138999.1:p.Arg99fs NC_000009.12:137716830:AGAAAGA:AGA p.(Arg99ThrfsTer28) NC_000009.12:137716830:AGAAAGA:AGA p.(Arg99ThrfsTer28) NC_000009.12:137716833:AAGA: Analogous +NM_015103.3:c.2467C>A NP_055918.3:p.Pro823Thr NC_000003.12:129575531:G:T p.(Pro823Thr) NC_000003.12:129575531:G:T p.(Pro823Thr) NC_000003.12:129575531:G:T Identity +NM_014053.4:c.673G>A NP_054772.1:p.Ala225Thr NC_000001.11:212859124:G:A p.(Ala225Thr) NC_000001.11:212859124:G:A p.(Ala225Thr) NC_000001.11:212859124:G:A Identity +NM_000816.3:c.247C>A NP_000807.2:p.Pro83Thr NC_000005.10:162093966:C:A p.(Pro83Thr) NC_000005.10:162093966:C:A p.(Pro83Thr) NC_000005.10:162093966:C:A Identity +NM_000454.5:c.197A>G NP_000445.1:p.Asn66Ser NC_000021.9:31666475:A:G p.(Asn66Ser) NC_000021.9:31666475:A:G p.(Asn66Ser) NC_000021.9:31666475:A:G Identity +NM_001365684.2:c.3332G>A NP_001352613.2:p.Ser1111Asn NC_000005.10:177239767:G:A p.(Ser1111Asn) NC_000005.10:177239767:G:A p.(Ser1111Asn) NC_000005.10:177239767:G:A Identity +NM_002547.3:c.1733C>T NP_002538.1:p.Pro578Leu NC_000023.11:68073252:G:A p.(Pro578Leu) NC_000023.11:68073252:G:A p.(Pro578Leu) NC_000023.11:68073252:G:A Identity +NM_001451.3:c.1070A>T NP_001442.2:p.His357Leu NC_000016.10:86513014:A:T p.(His357Leu) NC_000016.10:86513014:A:T p.(His357Leu) NC_000016.10:86513014:A:T Identity +NM_001353345.2:c.2301G>T NP_001340274.1:p.Gln767His NC_000012.12:121814515:G:T p.(Gln767His) NC_000012.12:121814515:G:T p.(Gln767His) NC_000012.12:121814515:G:T Identity +NM_014712.3:c.2968C>T NP_055527.1:p.Arg990Ter NC_000016.10:30969640:C:T p.(Arg990Ter) NC_000016.10:30969640:C:T p.(Arg990Ter) NC_000016.10:30969640:C:T Identity +NM_001256850.1:c.94342_94343del NP_001243779.1:p.Met31448fs NC_000002.12:178538562:ATA:A p.(Met31448ValfsTer5) NC_000002.12:178538562:ATA:A p.(Met31448ValfsTer5) NC_000002.12:178538562:AT: Analogous +NM_001320867.2:c.589G>A NP_001307796.1:p.Glu197Lys NC_000019.10:43508033:C:T p.(Glu197Lys) NC_000019.10:43508033:C:T p.(Glu197Lys) NC_000019.10:43508033:C:T Identity +NM_001407571.1:c.2845C>T NP_001394500.1:p.Pro949Ser NC_000017.11:43092472:G:A p.(Pro949Ser) NC_000017.11:43092472:G:A p.(Pro949Ser) NC_000017.11:43092472:G:A Identity +NM_023067.4:c.871del NP_075555.1:p.His291fs NC_000003.12:138945851:GGGGG:GGGG p.(His291ThrfsTer65) NC_000003.12:138945851:GGGGG:GGGG p.(His291ThrfsTer65) NC_000003.12:138945851:G: Analogous +NM_173812.5:c.1616A>G NP_776173.3:p.His539Arg NC_000012.12:63582514:T:C p.(His539Arg) NC_000012.12:63582514:T:C p.(His539Arg) NC_000012.12:63582514:T:C Identity +NM_000083.3:c.918C>A NP_000074.3:p.Phe306Leu NC_000007.14:143330835:C:A p.(Phe306Leu) NC_000007.14:143330835:C:A p.(Phe306Leu) NC_000007.14:143330835:C:A Identity +NM_001172509.2:c.700G>A NP_001165980.1:p.Val234Met NC_000002.12:199368604:C:T p.(Val234Met) NC_000002.12:199368604:C:T p.(Val234Met) NC_000002.12:199368604:C:T Identity +NM_000316.3:c.915C>G NP_000307.1:p.Tyr305Ter NC_000003.12:46899382:C:G p.(Tyr305Ter) NC_000003.12:46899382:C:G p.(Tyr305Ter) NC_000003.12:46899382:C:G Identity +NM_000296.4:c.9445A>C NP_000287.4:p.Ser3149Arg NC_000016.10:2100518:T:G p.(Ser3149Arg) NC_000016.10:2100518:T:G p.(Ser3149Arg) NC_000016.10:2100518:T:G Identity +NM_001003694.2:c.1240G>C NP_001003694.1:p.Ala414Pro NC_000003.12:9739638:G:C p.(Ala414Pro) NC_000003.12:9739638:G:C p.(Ala414Pro) NC_000003.12:9739638:G:C Identity +NM_003128.3:c.666T>A NP_003119.2:p.Phe222Leu NC_000002.12:54618095:T:A p.(Phe222Leu) NC_000002.12:54618095:T:A p.(Phe222Leu) NC_000002.12:54618095:T:A Identity +NM_001127487.2:c.617G>A NP_001120959.1:p.Trp206Ter NC_000007.14:128837174:G:A p.(Trp206Ter) NC_000007.14:128837174:G:A p.(Trp206Ter) NC_000007.14:128837174:G:A Identity +NM_001350671.1:c.267T>G NP_001337600.1:p.Tyr89Ter NC_000007.14:92234456:A:C p.(Tyr89Ter) NC_000007.14:92234456:A:C p.(Tyr89Ter) NC_000007.14:92234456:A:C Identity +NM_015560.3:c.70dup NP_056375.2:p.Ile24fs NC_000003.12:193614758:AA:AAA p.(Ile24AsnfsTer49) NC_000003.12:193614758:AA:AAA p.(Ile24AsnfsTer49) ERR:SPDI Analogous +NM_000496.3:c.359AGA[1] NP_000487.1:p.Lys121del NC_000022.11:25229485:GAAGAAGA:GAAGA p.(Lys121del) NC_000022.11:25229487:A:AGA ERR:Parse ERR:Parse Identity +NM_001159699.2:c.617C>A NP_001153171.1:p.Thr206Asn NC_000023.11:136208521:C:A p.(Thr206Asn) NC_000023.11:136208521:C:A p.(Thr206Asn) NC_000023.11:136208521:C:A Identity +NM_003106.4:c.103_110dup NP_003097.1:p.Ser37fs NC_000003.12:181712459:CAGAAAAACAG:CAGAAAAACAGAAAAACAG p.(Ser37ArgfsTer12) NC_000003.12:181712459:CAGAAAAACAG:CAGAAAAACAGAAAAACAG p.(Ser37ArgfsTer12) ERR:SPDI Analogous +NM_001007468.3:c.1121C>T NP_001007469.1:p.Pro374Leu NC_000022.11:23834169:C:T p.(Pro374Leu) NC_000022.11:23834169:C:T p.(Pro374Leu) NC_000022.11:23834169:C:T Identity +NM_001365536.1:c.660A>C NP_001352465.1:p.Arg220Ser NC_000002.12:166304265:T:G p.(Arg220Ser) NC_000002.12:166304265:T:G p.(Arg220Ser) NC_000002.12:166304265:T:G Identity +NM_000326.5:c.683A>G NP_000317.1:p.Gln228Arg NC_000015.10:89211743:T:C p.(Gln228Arg) NC_000015.10:89211743:T:C p.(Gln228Arg) NC_000015.10:89211743:T:C Identity +NM_001256789.3:c.2007del NP_001243718.1:p.Lys670fs NC_000023.11:49223006:G: p.(Lys670SerfsTer28) NC_000023.11:49223006:G: p.(Lys670SerfsTer28) NC_000023.11:49223006:G: Analogous +NM_000836.4:c.3772G>C NP_000827.2:p.Gly1258Arg NC_000019.10:48443697:G:C p.(Gly1258Arg) NC_000019.10:48443697:G:C p.(Gly1258Arg) NC_000019.10:48443697:G:C Identity +NM_000037.4:c.1082G>A NP_000028.3:p.Gly361Glu NC_000008.11:41719685:C:T p.(Gly361Glu) NC_000008.11:41719685:C:T p.(Gly361Glu) NC_000008.11:41719685:C:T Identity +NM_004818.3:c.1277T>A NP_004809.2:p.Leu426Gln NC_000012.12:48836225:A:T p.(Leu426Gln) NC_000012.12:48836225:A:T p.(Leu426Gln) NC_000012.12:48836225:A:T Identity +NM_006218.4:c.1153G>A NP_006209.2:p.Glu385Lys NC_000003.12:179209601:G:A p.(Glu385Lys) NC_000003.12:179209601:G:A p.(Glu385Lys) NC_000003.12:179209601:G:A Identity +NM_030632.3:c.1589T>C NP_085135.1:p.Met530Thr NC_000018.10:33738992:T:C p.(Met530Thr) NC_000018.10:33738992:T:C p.(Met530Thr) NC_000018.10:33738992:T:C Identity +NM_001102397.3:c.1340dup NP_001095867.1:p.Pro448fs NC_000001.11:23310712:CCCCC:CCCCCC p.(Pro448SerfsTer34) NC_000001.11:23310712:CCCCC:CCCCCC p.(Pro448SerfsTer34) ERR:SPDI Analogous +NM_001142617.2:c.1699C>T NP_001136089.1:p.Arg567Ter NC_000015.10:74180922:G:A p.(Arg567Ter) NC_000015.10:74180922:G:A p.(Arg567Ter) NC_000015.10:74180922:G:A Identity +NM_052897.4:c.2632C>T NP_443129.3:p.Arg878Ter NC_000012.12:57528371:C:T p.(Arg878Ter) NC_000012.12:57528371:C:T p.(Arg878Ter) NC_000012.12:57528371:C:T Identity +NM_001098209.2:c.1936T>C NP_001091679.1:p.Ser646Pro NC_000003.12:41236480:T:C p.(Ser646Pro) NC_000003.12:41236480:T:C p.(Ser646Pro) NC_000003.12:41236480:T:C Identity +NM_025114.4:c.6793_6794del NP_079390.3:p.Ser2265fs NC_000012.12:88058871:CTCT:CT p.(Ser2265LeufsTer11) NC_000012.12:88058871:CTCT:CT p.(Ser2265LeufsTer11) NC_000012.12:88058871:CT: Analogous +NM_001369786.1:c.50G>T NP_001356715.1:p.Ser17Ile NC_000012.12:25245334:C:A p.(Ser17Ile) NC_000012.12:25245334:C:A p.(Ser17Ile) NC_000012.12:25245334:C:A Identity +NM_001081676.2:c.3050A>G NP_001075145.1:p.Asp1017Gly NC_000002.12:165127826:T:C p.(Asp1017Gly) NC_000002.12:165127826:T:C p.(Asp1017Gly) NC_000002.12:165127826:T:C Identity +NM_001042749.2:c.1960A>G NP_001036214.1:p.Arg654Gly NC_000023.11:124063985:A:G p.(Arg654Gly) NC_000023.11:124063985:A:G p.(Arg654Gly) NC_000023.11:124063985:A:G Identity +NM_020247.5:c.1470C>A NP_064632.2:p.Asn490Lys NC_000001.11:226984618:C:A p.(Asn490Lys) NC_000001.11:226984618:C:A p.(Asn490Lys) NC_000001.11:226984618:C:A Identity +NM_001379200.1:c.110C>T NP_001366129.1:p.Pro37Leu NC_000022.11:19760952:C:T p.(Pro37Leu) NC_000022.11:19760952:C:T p.(Pro37Leu) NC_000022.11:19760952:C:T Identity +NM_001287489.2:c.964A>T NP_001274418.1:p.Ile322Phe NC_000002.12:26489291:T:A p.(Ile322Phe) NC_000002.12:26489291:T:A p.(Ile322Phe) NC_000002.12:26489291:T:A Identity +NM_017841.4:c.477G>T NP_060311.1:p.Glu159Asp NC_000011.10:61446046:G:T p.(Glu159Asp) NC_000011.10:61446046:G:T p.(Glu159Asp) NC_000011.10:61446046:G:T Identity +NM_001042424.3:c.2303A>G NP_001035889.1:p.His768Arg NC_000004.12:1953488:A:G p.(His768Arg) NC_000004.12:1953488:A:G p.(His768Arg) NC_000004.12:1953488:A:G Identity +NM_001378120.1:c.4750A>C NP_001365049.1:p.Ser1584Arg NC_000002.12:148490381:A:C p.(Ser1584Arg) NC_000002.12:148490381:A:C p.(Ser1584Arg) NC_000002.12:148490381:A:C Identity +NM_001321135.2:c.53C>A NP_001308064.1:p.Ala18Asp NC_000015.10:77018163:C:A p.(Ala18Asp) NC_000015.10:77018163:C:A p.(Ala18Asp) NC_000015.10:77018163:C:A Identity +NM_014053.4:c.1120G>A NP_054772.1:p.Gly374Arg NC_000001.11:212885319:G:A p.(Gly374Arg) NC_000001.11:212885319:G:A p.(Gly374Arg) NC_000001.11:212885319:G:A Identity +NM_001378418.1:c.5824C>A NP_001365347.1:p.Pro1942Thr NC_000022.11:42168711:G:T p.(Pro1942Thr) NC_000022.11:42168711:G:T p.(Pro1942Thr) NC_000022.11:42168711:G:T Identity +NM_018105.3:c.2del NP_060575.1:p.Met1fs NC_000008.11:42843092:A: p.(Met1ArgfsTer72) NC_000008.11:42843092:A: p.Met1? NC_000008.11:42843092:A: Analogous +NM_001282538.2:c.158A>G NP_001269467.1:p.Asp53Gly NC_000001.11:1793283:T:C p.(Asp53Gly) NC_000001.11:1793283:T:C p.(Asp53Gly) NC_000001.11:1793283:T:C Identity +NM_006734.4:c.846T>A NP_006725.3:p.Asp282Glu NC_000006.12:142773892:A:T p.(Asp282Glu) NC_000006.12:142773892:A:T p.(Asp282Glu) NC_000006.12:142773892:A:T Identity +NM_001376.5:c.6464C>G NP_001367.2:p.Pro2155Arg NC_000014.9:102010797:C:G p.(Pro2155Arg) NC_000014.9:102010797:C:G p.(Pro2155Arg) NC_000014.9:102010797:C:G Identity +NM_001135004.3:c.1102A>C NP_001128476.3:p.Thr368Pro NC_000009.12:34997211:A:C p.(Thr368Pro) NC_000009.12:34997211:A:C p.(Thr368Pro) NC_000009.12:34997211:A:C Identity +NM_001394062.1:c.17667T>A NP_001380991.1:p.Phe5889Leu NC_000001.11:39434514:T:A p.(Phe5889Leu) NC_000001.11:39434514:T:A p.(Phe5889Leu) NC_000001.11:39434514:T:A Identity +NM_001165924.2:c.161CCG[5] NP_001159396.1:p.Ala59del NC_000010.11:117543426:GCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCG p.(Ala59del) NC_000010.11:117543427:C:CCGCCGCCGCCGCCG ERR:Parse ERR:Parse Identity +NM_000371.4:c.220_221delinsCT NP_000362.1:p.Glu74Leu NC_000018.10:31595138:GA:CT p.(Glu74Leu) NC_000018.10:31595138:GA:CT p.(Glu74Leu) NC_000018.10:31595138:GA:CT Identity +NM_001166356.2:c.658C>T NP_001159828.1:p.Arg220Cys NC_000012.12:57232545:C:T p.(Arg220Cys) NC_000012.12:57232545:C:T p.(Arg220Cys) NC_000012.12:57232545:C:T Identity +NM_001031804.3:c.820C>G NP_001026974.1:p.Leu274Val NC_000016.10:79599082:G:C p.(Leu274Val) NC_000016.10:79599082:G:C p.(Leu274Val) NC_000016.10:79599082:G:C Identity +NM_002661.5:c.3497C>T NP_002652.2:p.Pro1166Leu NC_000016.10:81946189:C:T p.(Pro1166Leu) NC_000016.10:81946189:C:T p.(Pro1166Leu) NC_000016.10:81946189:C:T Identity +NM_001348250.2:c.791C>T NP_001335179.1:p.Ala264Val NC_000003.12:11025524:C:T p.(Ala264Val) NC_000003.12:11025524:C:T p.(Ala264Val) NC_000003.12:11025524:C:T Identity +NM_001354609.2:c.1348_1349insC NP_001341538.1:p.Trp450fs NC_000007.14:140781659::G p.(Trp450SerfsTer5) NC_000007.14:140781658:C:G p.(Trp450SerfsTer5) NC_000007.14:140781659:CA:G Analogous +NM_001363734.1:c.661C>G NP_001350663.1:p.Gln221Glu NC_000020.11:32431445:C:G p.(Gln221Glu) NC_000020.11:32431445:C:G p.(Gln221Glu) NC_000020.11:32431445:C:G Identity +NM_003128.3:c.160_161delinsTG NP_003119.2:p.Ala54Cys NC_000002.12:54599102:GC:TG p.(Ala54Cys) NC_000002.12:54599102:GC:TG p.(Ala54Cys) NC_000002.12:54599102:GC:TG Identity +NM_002292.4:c.2369C>G NP_002283.3:p.Ser790Ter NC_000003.12:49125865:G:C p.(Ser790Ter) NC_000003.12:49125865:G:C p.(Ser790Ter) NC_000003.12:49125865:G:C Identity +NM_003705.5:c.1295C>T NP_003696.2:p.Ala432Val NC_000002.12:171809615:G:A p.(Ala432Val) NC_000002.12:171809615:G:A p.(Ala432Val) NC_000002.12:171809615:G:A Identity +NM_001164342.2:c.1739G>A NP_001157814.1:p.Cys580Tyr NC_000003.12:114350338:C:T p.(Cys580Tyr) NC_000003.12:114350338:C:T p.(Cys580Tyr) NC_000003.12:114350338:C:T Identity +NM_001127178.3:c.2150C>T NP_001120650.1:p.Ser717Phe NC_000004.12:527118:C:T p.(Ser717Phe) NC_000004.12:527118:C:T p.(Ser717Phe) NC_000004.12:527118:C:T Identity +NM_005859.5:c.232A>G NP_005850.1:p.Lys78Glu NC_000005.10:140114412:A:G p.(Lys78Glu) NC_000005.10:140114412:A:G p.(Lys78Glu) NC_000005.10:140114412:A:G Identity +NM_001303242.2:c.50dup NP_001290171.1:p.Leu18fs NC_000001.11:151017820:CC:CCC p.(Leu18SerfsTer8) NC_000001.11:151017820:CC:CCC p.(Leu18SerfsTer8) ERR:SPDI Analogous +NM_001354609.2:c.1353_1354insC NP_001341538.1:p.Ile452fs NC_000007.14:140781654::G p.(Ile452HisfsTer3) NC_000007.14:140781653:T:G p.(Ile452HisfsTer3) NC_000007.14:140781654:TC:G Analogous +NM_001354609.2:c.1333G>T NP_001341538.1:p.Asp445Tyr NC_000007.14:140781674:C:A p.(Asp445Tyr) NC_000007.14:140781674:C:A p.(Asp445Tyr) NC_000007.14:140781674:C:A Identity +NM_001081676.2:c.4031G>A NP_001075145.1:p.Trp1344Ter NC_000002.12:165097312:C:T p.(Trp1344Ter) NC_000002.12:165097312:C:T p.(Trp1344Ter) NC_000002.12:165097312:C:T Identity +NM_001301063.2:c.23G>A NP_001287992.1:p.Arg8Gln NC_000005.10:150521276:G:A p.(Arg8Gln) NC_000005.10:150521276:G:A p.(Arg8Gln) NC_000005.10:150521276:G:A Identity +NM_001486.4:c.335G>A NP_001477.2:p.Arg112Gln NC_000002.12:27498303:G:A p.(Arg112Gln) NC_000002.12:27498303:G:A p.(Arg112Gln) NC_000002.12:27498303:G:A Identity +NM_000172.4:c.490G>A NP_000163.2:p.Val164Met NC_000003.12:50193792:G:A p.(Val164Met) NC_000003.12:50193792:G:A p.(Val164Met) NC_000003.12:50193792:G:A Identity +NM_001164144.3:c.2269G>A NP_001157616.1:p.Val757Ile NC_000013.11:114326110:G:A p.(Val757Ile) NC_000013.11:114326110:G:A p.(Val757Ile) NC_000013.11:114326110:G:A Identity +NM_001163812.2:c.181C>T NP_001157284.1:p.Arg61Cys NC_000010.11:100988390:C:T p.(Arg61Cys) NC_000010.11:100988390:C:T p.(Arg61Cys) NC_000010.11:100988390:C:T Identity +NM_001369346.1:c.141G>C NP_001356275.1:p.Gln47His NC_000002.12:25799472:C:G p.(Gln47His) NC_000002.12:25799472:C:G p.(Gln47His) NC_000002.12:25799472:C:G Identity +NM_001127487.2:c.4486A>G NP_001120959.1:p.Asn1496Asp NC_000007.14:128847973:A:G p.(Asn1496Asp) NC_000007.14:128847973:A:G p.(Asn1496Asp) NC_000007.14:128847973:A:G Identity +NM_000264.5:c.3457T>C NP_000255.2:p.Phe1153Leu NC_000009.12:95449932:A:G p.(Phe1153Leu) NC_000009.12:95449932:A:G p.(Phe1153Leu) NC_000009.12:95449932:A:G Identity +NM_001256850.1:c.36535G>A NP_001243779.1:p.Val12179Met NC_000002.12:178636112:C:T p.(Val12179Met) NC_000002.12:178636112:C:T p.(Val12179Met) NC_000002.12:178636112:C:T Identity +NM_001411101.1:c.767C>T NP_001398030.1:p.Ala256Val NC_000017.11:82800863:C:T p.(Ala256Val) NC_000017.11:82800863:C:T p.(Ala256Val) NC_000017.11:82800863:C:T Identity +NM_000551.4:c.464T>C NP_000542.1:p.Val155Ala NC_000003.12:10149786:T:C p.(Val155Ala) NC_000003.12:10149786:T:C p.(Val155Ala) NC_000003.12:10149786:T:C Identity +NM_013436.5:c.2894C>T NP_038464.1:p.Ala965Val NC_000002.12:182930753:G:A p.(Ala965Val) NC_000002.12:182930753:G:A p.(Ala965Val) NC_000002.12:182930753:G:A Identity +NM_001354689.3:c.512A>C NP_001341618.1:p.Lys171Thr NC_000003.12:12608834:T:G p.(Lys171Thr) NC_000003.12:12608834:T:G p.(Lys171Thr) NC_000003.12:12608834:T:G Identity +NM_000059.4:c.7353del NP_000050.3:p.Asp2451fs NC_000013.11:32355205:C: p.(Asp2451GlufsTer16) NC_000013.11:32355205:C: p.(Asp2451GlufsTer16) NC_000013.11:32355205:C: Analogous +NM_002267.4:c.983T>C NP_002258.2:p.Leu328Pro NC_000013.11:49709620:A:G p.(Leu328Pro) NC_000013.11:49709620:A:G p.(Leu328Pro) NC_000013.11:49709620:A:G Identity +NM_004621.6:c.2346dup NP_004612.2:p.Trp783fs NC_000011.10:101471245:TTTTTT:TTTTTTT p.(Trp783MetfsTer4) NC_000011.10:101471245:TTTTTT:TTTTTTT p.(Trp783MetfsTer4) ERR:SPDI Analogous +NM_000186.4:c.2089C>T NP_000177.2:p.Leu697Phe NC_000001.11:196726792:C:T p.(Leu697Phe) NC_000001.11:196726792:C:T p.(Leu697Phe) NC_000001.11:196726792:C:T Identity +NM_002267.4:c.1049T>C NP_002258.2:p.Leu350Pro NC_000013.11:49706355:A:G p.(Leu350Pro) NC_000013.11:49706355:A:G p.(Leu350Pro) NC_000013.11:49706355:A:G Identity +NM_006361.6:c.430C>G NP_006352.2:p.Leu144Val NC_000017.11:48728163:G:C p.(Leu144Val) NC_000017.11:48728163:G:C p.(Leu144Val) NC_000017.11:48728163:G:C Identity +NM_014014.5:c.4975C>A NP_054733.2:p.His1659Asn NC_000002.12:96281862:G:T p.(His1659Asn) NC_000002.12:96281862:G:T p.(His1659Asn) NC_000002.12:96281862:G:T Identity +NM_000053.4:c.3286G>A NP_000044.2:p.Ala1096Thr NC_000013.11:51942511:C:T p.(Ala1096Thr) NC_000013.11:51942511:C:T p.(Ala1096Thr) NC_000013.11:51942511:C:T Identity +NM_001031729.1:c.1051A>G NP_001026899.1:p.Ser351Gly NC_000015.10:43883786:T:C ERR:Data provider error: ValueError: Transcript NM_001031729.1 not found ERR:Data provider error: ValueError: Transcript NM_001031729.1 not found ERR:AlignmentMapper(tx_ac=NM_001031729.1, alt_ac=NM_001031729.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031729.1, alt_ac=NM_001031729.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031729.1 not found +NM_001029882.3:c.1493T>A NP_001025053.1:p.Leu498Ter NC_000001.11:27550622:A:T p.(Leu498Ter) NC_000001.11:27550622:A:T p.(Leu498Ter) NC_000001.11:27550622:A:T Identity +NM_001286130.2:c.3223A>G NP_001273059.1:p.Arg1075Gly NC_000016.10:57897397:T:C p.(Arg1075Gly) NC_000016.10:57897397:T:C p.(Arg1075Gly) NC_000016.10:57897397:T:C Identity +NM_006015.6:c.4726C>T NP_006006.3:p.Pro1576Ser NC_000001.11:26774952:C:T p.(Pro1576Ser) NC_000001.11:26774952:C:T p.(Pro1576Ser) NC_000001.11:26774952:C:T Identity +NM_001273.5:c.4057C>T NP_001264.2:p.Arg1353Ter NC_000012.12:6583200:G:A p.(Arg1353Ter) NC_000012.12:6583200:G:A p.(Arg1353Ter) NC_000012.12:6583200:G:A Identity +NM_001406559.1:c.26G>A NP_001393488.1:p.Arg9Lys NC_000010.11:86876043:G:A p.(Arg9Lys) NC_000010.11:86876043:G:A p.(Arg9Lys) NC_000010.11:86876043:G:A Identity +NM_001308133.2:c.5589T>G NP_001295062.1:p.Ser1863Arg NC_000014.9:45196497:T:G p.(Ser1863Arg) NC_000014.9:45196497:T:G p.(Ser1863Arg) NC_000014.9:45196497:T:G Identity +NM_001346813.1:c.661G>C NP_001333742.1:p.Gly221Arg NC_000006.12:156778589:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_020461.4:c.4782C>A NP_065194.3:p.Asn1594Lys NC_000022.11:50218741:G:T p.(Asn1594Lys) NC_000022.11:50218741:G:T p.(Asn1594Lys) NC_000022.11:50218741:G:T Identity +NM_001099952.4:c.3769C>T NP_001093422.2:p.His1257Tyr NC_000003.12:4688587:C:T p.(His1257Tyr) NC_000003.12:4688587:C:T p.(His1257Tyr) NC_000003.12:4688587:C:T Identity +NM_001378454.1:c.7598A>G NP_001365383.1:p.Asn2533Ser NC_000002.12:73455218:A:G p.(Asn2533Ser) NC_000002.12:73455218:A:G p.(Asn2533Ser) NC_000002.12:73455218:A:G Identity +NM_014208.3:c.584A>G NP_055023.2:p.Asn195Ser NC_000004.12:87612769:A:G p.(Asn195Ser) NC_000004.12:87612769:A:G p.(Asn195Ser) NC_000004.12:87612769:A:G Identity +NM_001190964.4:c.1598T>C NP_001177893.1:p.Leu533Pro NC_000013.11:20026624:T:C p.(Leu533Pro) NC_000013.11:20026624:T:C p.(Leu533Pro) NC_000013.11:20026624:T:C Identity +NM_000553.6:c.3513G>T NP_000544.2:p.Met1171Ile NC_000008.11:31147416:G:T p.(Met1171Ile) NC_000008.11:31147416:G:T p.(Met1171Ile) NC_000008.11:31147416:G:T Identity +NM_000195.5:c.1907T>C NP_000186.2:p.Val636Ala NC_000010.11:98418207:A:G p.(Val636Ala) NC_000010.11:98418207:A:G p.(Val636Ala) NC_000010.11:98418207:A:G Identity +NM_001042692.3:c.1612G>C NP_001036157.1:p.Asp538His NC_000002.12:63153563:C:G p.(Asp538His) NC_000002.12:63153563:C:G p.(Asp538His) NC_000002.12:63153563:C:G Identity +NM_001193307.2:c.3948C>A NP_001180236.1:p.Asn1316Lys NC_000007.14:93102149:G:T p.(Asn1316Lys) NC_000007.14:93102149:G:T p.(Asn1316Lys) NC_000007.14:93102149:G:T Identity +NM_001007097.3:c.929A>G NP_001007098.1:p.Asn310Ser NC_000009.12:84727728:A:G p.(Asn310Ser) NC_000009.12:84727728:A:G p.(Asn310Ser) NC_000009.12:84727728:A:G Identity +NM_012327.6:c.1060C>T NP_036459.1:p.Leu354Phe NC_000018.10:62139038:G:A p.(Leu354Phe) NC_000018.10:62139038:G:A p.(Leu354Phe) NC_000018.10:62139038:G:A Identity +NM_001127713.1:c.1070T>C NP_001121185.1:p.Leu357Ser NC_000014.9:50623198:T:C p.(Leu357Ser) NC_000014.9:50623198:T:C p.(Leu357Ser) NC_000014.9:50623198:T:C Identity +NM_001145661.2:c.297C>A NP_001139133.1:p.Asp99Glu NC_000003.12:128486300:G:T p.(Asp99Glu) NC_000003.12:128486300:G:T p.(Asp99Glu) NC_000003.12:128486300:G:T Identity +NM_001367473.1:c.2303T>C NP_001354402.1:p.Leu768Pro NC_000001.11:6457250:T:C p.(Leu768Pro) NC_000001.11:6457250:T:C p.(Leu768Pro) NC_000001.11:6457250:T:C Identity +NM_004525.3:c.10112C>A NP_004516.2:p.Thr3371Asn NC_000002.12:169181504:G:T p.(Thr3371Asn) NC_000002.12:169181504:G:T p.(Thr3371Asn) NC_000002.12:169181504:G:T Identity +NM_000081.4:c.5755C>T NP_000072.2:p.Leu1919Phe NC_000001.11:235773870:G:A p.(Leu1919Phe) NC_000001.11:235773870:G:A p.(Leu1919Phe) NC_000001.11:235773870:G:A Identity +NM_001201459.2:c.1324C>T NP_001188388.1:p.Leu442Phe NC_000002.12:27377660:G:A p.(Leu442Phe) NC_000002.12:27377660:G:A p.(Leu442Phe) NC_000002.12:27377660:G:A Identity +NM_005932.4:c.293C>T NP_005923.3:p.Thr98Ile NC_000013.11:23886402:G:A p.(Thr98Ile) NC_000013.11:23886402:G:A p.(Thr98Ile) NC_000013.11:23886402:G:A Identity +NM_001242581.2:c.674G>A NP_001229510.1:p.Cys225Tyr NC_000020.11:19965014:G:A p.(Cys225Tyr) NC_000020.11:19965014:G:A p.(Cys225Tyr) NC_000020.11:19965014:G:A Identity +NM_001999.4:c.8117G>A NP_001990.2:p.Cys2706Tyr NC_000005.10:128263499:C:T p.(Cys2706Tyr) NC_000005.10:128263499:C:T p.(Cys2706Tyr) NC_000005.10:128263499:C:T Identity +NM_001411020.1:c.1867G>T NP_001397949.1:p.Ala623Ser NC_000014.9:50157089:C:A p.(Ala623Ser) NC_000014.9:50157089:C:A p.(Ala623Ser) NC_000014.9:50157089:C:A Identity +NM_003705.5:c.950G>A NP_003696.2:p.Arg317Lys NC_000002.12:171815182:C:T p.(Arg317Lys) NC_000002.12:171815182:C:T p.(Arg317Lys) NC_000002.12:171815182:C:T Identity +NM_001291285.3:c.1421T>G NP_001278214.1:p.Val474Gly NC_000004.12:125317831:T:G p.(Val474Gly) NC_000004.12:125317831:T:G p.(Val474Gly) NC_000004.12:125317831:T:G Identity +NM_014053.4:c.55G>C NP_054772.1:p.Ala19Pro NC_000001.11:212858506:G:C p.(Ala19Pro) NC_000001.11:212858506:G:C p.(Ala19Pro) NC_000001.11:212858506:G:C Identity +NM_006269.2:c.5930G>A NP_006260.1:p.Arg1977Lys NC_000008.11:54629811:G:A p.(Arg1977Lys) NC_000008.11:54629811:G:A p.(Arg1977Lys) NC_000008.11:54629811:G:A Identity +NM_001252020.2:c.1485C>G NP_001238949.1:p.Asn495Lys NC_000015.10:31050411:G:C p.(Asn495Lys) NC_000015.10:31050411:G:C p.(Asn495Lys) NC_000015.10:31050411:G:C Identity +NM_001291285.3:c.4664C>T NP_001278214.1:p.Pro1555Leu NC_000004.12:125321074:C:T p.(Pro1555Leu) NC_000004.12:125321074:C:T p.(Pro1555Leu) NC_000004.12:125321074:C:T Identity +NM_033109.5:c.2278G>C NP_149100.2:p.Val760Leu NC_000002.12:55636310:C:G p.(Val760Leu) NC_000002.12:55636310:C:G p.(Val760Leu) NC_000002.12:55636310:C:G Identity +NM_004218.4:c.545C>T NP_004209.2:p.Ala182Val NC_000019.10:8403445:C:T p.(Ala182Val) NC_000019.10:8403445:C:T p.(Ala182Val) NC_000019.10:8403445:C:T Identity +NM_001207047.3:c.1804A>C NP_001193976.1:p.Asn602His NC_000020.11:3575885:A:C p.(Asn602His) NC_000020.11:3575885:A:C p.(Asn602His) NC_000020.11:3575885:A:C Identity +NM_001082537.3:c.316T>C NP_001076006.1:p.Ser106Pro NC_000012.12:110619930:T:C p.(Ser106Pro) NC_000012.12:110619930:T:C p.(Ser106Pro) NC_000012.12:110619930:T:C Identity +NM_004370.6:c.6749T>G NP_004361.3:p.Val2250Gly NC_000006.12:75124069:A:C p.(Val2250Gly) NC_000006.12:75124069:A:C p.(Val2250Gly) NC_000006.12:75124069:A:C Identity +NM_001195129.2:c.1774C>A NP_001182058.1:p.Pro592Thr NC_000002.12:232525467:C:A p.(Pro592Thr) NC_000002.12:232525467:C:A p.(Pro592Thr) NC_000002.12:232525467:C:A Identity +NM_000721.4:c.1405A>T NP_000712.2:p.Ile469Phe NC_000001.11:181717181:A:T p.(Ile469Phe) NC_000001.11:181717181:A:T p.(Ile469Phe) NC_000001.11:181717181:A:T Identity +NM_001257158.2:c.67T>A NP_001244087.1:p.Tyr23Asn NC_000007.14:130427984:A:T p.(Tyr23Asn) NC_000007.14:130427984:A:T p.(Tyr23Asn) NC_000007.14:130427984:A:T Identity +NM_000902.5:c.1015A>G NP_000893.2:p.Thr339Ala NC_000003.12:155142047:A:G p.(Thr339Ala) NC_000003.12:155142047:A:G p.(Thr339Ala) NC_000003.12:155142047:A:G Identity +NM_005886.3:c.223G>A NP_005877.2:p.Glu75Lys NC_000016.10:57744444:G:A p.(Glu75Lys) NC_000016.10:57744444:G:A p.(Glu75Lys) NC_000016.10:57744444:G:A Identity +NM_015629.4:c.870A>T NP_056444.3:p.Lys290Asn NC_000019.10:54126541:A:T p.(Lys290Asn) NC_000019.10:54126541:A:T p.(Lys290Asn) NC_000019.10:54126541:A:T Identity +NM_000203.5:c.179A>C NP_000194.2:p.Gln60Pro NC_000004.12:987828:A:C p.(Gln60Pro) NC_000004.12:987828:A:C p.(Gln60Pro) NC_000004.12:987828:A:C Identity +NM_001168249.1:c.3181G>A NP_001161721.1:p.Gly1061Arg NC_000001.11:102934519:C:T ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001367624.2:c.8829C>A NP_001354553.1:p.Phe2943Leu NC_000016.10:88436298:C:A p.(Phe2943Leu) NC_000016.10:88436298:C:A p.(Phe2943Leu) NC_000016.10:88436298:C:A Identity +NM_173477.5:c.16C>T NP_775748.2:p.His6Tyr NC_000017.11:74923057:G:A p.(His6Tyr) NC_000017.11:74923057:G:A p.(His6Tyr) NC_000017.11:74923057:G:A Identity +NM_000016.6:c.1070C>G NP_000007.1:p.Ala357Gly NC_000001.11:75761245:C:G p.(Ala357Gly) NC_000001.11:75761245:C:G p.(Ala357Gly) NC_000001.11:75761245:C:G Identity +NM_001318872.2:c.296A>G NP_001305801.1:p.Lys99Arg NC_000006.12:5368865:A:G p.(Lys99Arg) NC_000006.12:5368865:A:G p.(Lys99Arg) NC_000006.12:5368865:A:G Identity +NM_005908.4:c.1394A>G NP_005899.3:p.Asn465Ser NC_000004.12:102664775:T:C p.(Asn465Ser) NC_000004.12:102664775:T:C p.(Asn465Ser) NC_000004.12:102664775:T:C Identity +NM_003921.5:c.356G>A NP_003912.1:p.Cys119Tyr NC_000001.11:85267972:C:T p.(Cys119Tyr) NC_000001.11:85267972:C:T p.(Cys119Tyr) NC_000001.11:85267972:C:T Identity +NM_001005242.3:c.1390A>C NP_001005242.2:p.Asn464His NC_000012.12:32841193:T:G p.(Asn464His) NC_000012.12:32841193:T:G p.(Asn464His) NC_000012.12:32841193:T:G Identity +NM_001329556.3:c.101G>C NP_001316485.1:p.Arg34Pro NC_000019.10:1491369:G:C p.(Arg34Pro) NC_000019.10:1491369:G:C p.(Arg34Pro) NC_000019.10:1491369:G:C Identity +NM_001306193.2:c.1414C>G NP_001293122.1:p.Gln472Glu NC_000023.11:132078557:G:C p.(Gln472Glu) NC_000023.11:132078557:G:C p.(Gln472Glu) NC_000023.11:132078557:G:C Identity +NM_004482.4:c.962C>T NP_004473.2:p.Pro321Leu NC_000002.12:165759446:G:A p.(Pro321Leu) NC_000002.12:165759446:G:A p.(Pro321Leu) NC_000002.12:165759446:G:A Identity +NM_001193416.3:c.1742A>G NP_001180345.1:p.Lys581Arg NC_000023.11:41346984:A:G p.(Lys581Arg) NC_000023.11:41346984:A:G p.(Lys581Arg) NC_000023.11:41346984:A:G Identity +NM_170606.3:c.9199C>A NP_733751.2:p.Gln3067Lys NC_000007.14:152176253:G:T p.(Gln3067Lys) NC_000007.14:152176253:G:T p.(Gln3067Lys) NC_000007.14:152176253:G:T Identity +NM_000056.5:c.37A>G NP_000047.1:p.Arg13Gly NC_000006.12:80106729:A:G p.(Arg13Gly) NC_000006.12:80106729:A:G p.(Arg13Gly) NC_000006.12:80106729:A:G Identity +NM_001256119.2:c.149G>T NP_001243048.1:p.Gly50Val NC_000023.11:153933972:C:A p.(Gly50Val) NC_000023.11:153933972:C:A p.(Gly50Val) NC_000023.11:153933972:C:A Identity +NM_015335.5:c.5943G>C NP_056150.1:p.Gln1981His NC_000012.12:115970717:C:G p.(Gln1981His) NC_000012.12:115970717:C:G p.(Gln1981His) NC_000012.12:115970717:C:G Identity +NM_014510.3:c.2995G>C NP_055325.2:p.Glu999Gln NC_000007.14:83134554:C:G p.(Glu999Gln) NC_000007.14:83134554:C:G p.(Glu999Gln) NC_000007.14:83134554:C:G Identity +NM_001079812.3:c.6G>C NP_001073280.1:p.Glu2Asp NC_000005.10:141618908:C:G p.(Glu2Asp) NC_000005.10:141618908:C:G p.(Glu2Asp) NC_000005.10:141618908:C:G Identity +NM_206933.4:c.14437T>C NP_996816.3:p.Cys4813Arg NC_000001.11:215648672:A:G p.(Cys4813Arg) NC_000001.11:215648672:A:G p.(Cys4813Arg) NC_000001.11:215648672:A:G Identity +NM_004159.5:c.795C>A NP_004150.1:p.His265Gln NC_000006.12:32840982:G:T p.(His265Gln) NC_000006.12:32840982:G:T p.(His265Gln) NC_000006.12:32840982:G:T Identity +NM_001184.4:c.2041C>A NP_001175.2:p.Gln681Lys NC_000003.12:142556419:G:T p.(Gln681Lys) NC_000003.12:142556419:G:T p.(Gln681Lys) NC_000003.12:142556419:G:T Identity +NM_032119.4:c.14294C>T NP_115495.3:p.Ala4765Val NC_000005.10:90791122:C:T p.(Ala4765Val) NC_000005.10:90791122:C:T p.(Ala4765Val) NC_000005.10:90791122:C:T Identity +NM_001003786.3:c.680G>C NP_001003786.1:p.Ser227Thr NC_000017.11:63706701:C:G p.(Ser227Thr) NC_000017.11:63706701:C:G p.(Ser227Thr) NC_000017.11:63706701:C:G Identity +NM_000163.5:c.1093C>T NP_000154.1:p.Leu365Phe NC_000005.10:42718599:C:T p.(Leu365Phe) NC_000005.10:42718599:C:T p.(Leu365Phe) NC_000005.10:42718599:C:T Identity +NM_001130991.3:c.338T>C NP_001124463.1:p.Val113Ala NC_000011.10:119055265:A:G p.(Val113Ala) NC_000011.10:119055265:A:G p.(Val113Ala) NC_000011.10:119055265:A:G Identity +NM_006231.4:c.1267A>T NP_006222.2:p.Asn423Tyr NC_000012.12:132673666:T:A p.(Asn423Tyr) NC_000012.12:132673666:T:A p.(Asn423Tyr) NC_000012.12:132673666:T:A Identity +NM_001305275.2:c.5942A>G NP_001292204.1:p.His1981Arg NC_000001.11:1053973:A:G p.(His1981Arg) NC_000001.11:1053973:A:G p.(His1981Arg) NC_000001.11:1053973:A:G Identity +NM_016247.4:c.1955T>G NP_057331.2:p.Val652Gly NC_000003.12:101244375:A:C p.(Val652Gly) NC_000003.12:101244375:A:C p.(Val652Gly) NC_000003.12:101244375:A:C Identity +NM_001130690.3:c.136G>C NP_001124162.1:p.Glu46Gln NC_000006.12:165543499:C:G p.(Glu46Gln) NC_000006.12:165543499:C:G p.(Glu46Gln) NC_000006.12:165543499:C:G Identity +NM_001171184.2:c.2180G>T NP_001164655.1:p.Arg727Leu NC_000023.11:101258331:G:T p.(Arg727Leu) NC_000023.11:101258331:G:T p.(Arg727Leu) NC_000023.11:101258331:G:T Identity +NM_000785.4:c.163A>G NP_000776.1:p.Lys55Glu NC_000012.12:57766878:T:C p.(Lys55Glu) NC_000012.12:57766878:T:C p.(Lys55Glu) NC_000012.12:57766878:T:C Identity +NM_001098511.3:c.247G>A NP_001091981.1:p.Ala83Thr NC_000005.10:62348134:G:A p.(Ala83Thr) NC_000005.10:62348134:G:A p.(Ala83Thr) NC_000005.10:62348134:G:A Identity +NM_000388.4:c.1415A>C NP_000379.3:p.Asn472Thr NC_000003.12:122275848:A:C p.(Asn472Thr) NC_000003.12:122275848:A:C p.(Asn472Thr) NC_000003.12:122275848:A:C Identity +NM_000368.5:c.2021T>C NP_000359.1:p.Val674Ala NC_000009.12:132904430:A:G p.(Val674Ala) NC_000009.12:132904430:A:G p.(Val674Ala) NC_000009.12:132904430:A:G Identity +NM_003922.4:c.10365G>T NP_003913.3:p.Trp3455Cys NC_000015.10:63652466:C:A p.(Trp3455Cys) NC_000015.10:63652466:C:A p.(Trp3455Cys) NC_000015.10:63652466:C:A Identity +NM_001042692.3:c.1226A>T NP_001036157.1:p.Asp409Val NC_000002.12:63378430:T:A p.(Asp409Val) NC_000002.12:63378430:T:A p.(Asp409Val) NC_000002.12:63378430:T:A Identity +NM_015512.5:c.10108G>A NP_056327.4:p.Glu3370Lys NC_000003.12:52392518:G:A p.(Glu3370Lys) NC_000003.12:52392518:G:A p.(Glu3370Lys) NC_000003.12:52392518:G:A Identity +NM_000545.8:c.706T>G NP_000536.6:p.Cys236Gly NC_000012.12:120993698:T:G p.(Cys236Gly) NC_000012.12:120993698:T:G p.(Cys236Gly) NC_000012.12:120993698:T:G Identity +NM_001330166.2:c.8C>T NP_001317095.1:p.Ser3Leu NC_000017.11:28548632:G:A p.(Ser3Leu) NC_000017.11:28548632:G:A p.(Ser3Leu) NC_000017.11:28548632:G:A Identity +NM_001099271.2:c.452T>G NP_001092741.1:p.Val151Gly NC_000005.10:75702665:A:C p.(Val151Gly) NC_000005.10:75702665:A:C p.(Val151Gly) NC_000005.10:75702665:A:C Identity +NM_001244189.2:c.1697A>G NP_001231118.1:p.Asp566Gly NC_000014.9:58457933:A:G p.(Asp566Gly) NC_000014.9:58457933:A:G p.(Asp566Gly) NC_000014.9:58457933:A:G Identity +NM_000878.5:c.184C>T NP_000869.1:p.His62Tyr NC_000022.11:37143539:G:A p.(His62Tyr) NC_000022.11:37143539:G:A p.(His62Tyr) NC_000022.11:37143539:G:A Identity +NM_001293557.2:c.208A>G NP_001280486.1:p.Thr70Ala NC_000016.10:50699702:A:G p.(Thr70Ala) NC_000016.10:50699702:A:G p.(Thr70Ala) NC_000016.10:50699702:A:G Identity +NM_003737.4:c.5555C>T NP_003728.1:p.Ala1852Val NC_000011.10:6627483:G:A p.(Ala1852Val) NC_000011.10:6627483:G:A p.(Ala1852Val) NC_000011.10:6627483:G:A Identity +NM_001098398.2:c.1213C>A NP_001091868.1:p.Pro405Thr NC_000001.11:160309106:G:T p.(Pro405Thr) NC_000001.11:160309106:G:T p.(Pro405Thr) NC_000001.11:160309106:G:T Identity +NM_032856.5:c.182C>T NP_116245.2:p.Ser61Phe NC_000015.10:84652729:G:A p.(Ser61Phe) NC_000015.10:84652729:G:A p.(Ser61Phe) NC_000015.10:84652729:G:A Identity +NM_001375654.1:c.67C>T NP_001362583.1:p.Pro23Ser NC_000008.11:54621032:C:T p.(Pro23Ser) NC_000008.11:54621032:C:T p.(Pro23Ser) NC_000008.11:54621032:C:T Identity +NM_000717.5:c.424G>C NP_000708.1:p.Val142Leu NC_000017.11:60157698:G:C p.(Val142Leu) NC_000017.11:60157698:G:C p.(Val142Leu) NC_000017.11:60157698:G:C Identity +NM_001244189.2:c.1255G>A NP_001231118.1:p.Glu419Lys NC_000014.9:58450712:G:A p.(Glu419Lys) NC_000014.9:58450712:G:A p.(Glu419Lys) NC_000014.9:58450712:G:A Identity +NM_001365999.1:c.5382_5383delinsGC NP_001352928.1:p.Ser1795Pro NC_000001.11:43432378:TT:GC p.(Ser1795Pro) NC_000001.11:43432378:TT:GC p.(Ser1795Pro) NC_000001.11:43432378:TT:GC Identity +NM_012463.4:c.2015T>C NP_036595.2:p.Leu672Ser NC_000012.12:123751188:T:C p.(Leu672Ser) NC_000012.12:123751188:T:C p.(Leu672Ser) NC_000012.12:123751188:T:C Identity +NM_000702.4:c.2101G>A NP_000693.1:p.Gly701Arg NC_000001.11:160135280:G:A p.(Gly701Arg) NC_000001.11:160135280:G:A p.(Gly701Arg) NC_000001.11:160135280:G:A Identity +NM_003151.4:c.599A>T NP_003142.1:p.Glu200Val NC_000002.12:191066460:T:A p.(Glu200Val) NC_000002.12:191066460:T:A p.(Glu200Val) NC_000002.12:191066460:T:A Identity +NM_021076.4:c.65G>A NP_066554.2:p.Gly22Asp NC_000022.11:29480326:G:A p.(Gly22Asp) NC_000022.11:29480326:G:A p.(Gly22Asp) NC_000022.11:29480326:G:A Identity +NM_001354044.2:c.27G>C NP_001340973.1:p.Gln9His NC_000002.12:63492916:C:G p.(Gln9His) NC_000002.12:63492916:C:G p.(Gln9His) NC_000002.12:63492916:C:G Identity +NM_001164665.2:c.5627C>G NP_001158137.1:p.Ser1876Cys NC_000007.14:138838131:G:C p.(Ser1876Cys) NC_000007.14:138838131:G:C p.(Ser1876Cys) NC_000007.14:138838131:G:C Identity +NM_000207.3:c.29T>A NP_000198.1:p.Leu10Gln NC_000011.10:2160942:A:T p.(Leu10Gln) NC_000011.10:2160942:A:T p.(Leu10Gln) NC_000011.10:2160942:A:T Identity +NM_000832.7:c.1967T>G NP_000823.4:p.Val656Gly NC_000009.12:137162692:T:G p.(Val656Gly) NC_000009.12:137162692:T:G p.(Val656Gly) NC_000009.12:137162692:T:G Identity +NM_017890.5:c.3746C>G NP_060360.3:p.Ser1249Cys NC_000008.11:99481677:C:G p.(Ser1249Cys) NC_000008.11:99481677:C:G p.(Ser1249Cys) NC_000008.11:99481677:C:G Identity +NM_001146008.2:c.626C>A NP_001139480.1:p.Ala209Glu NC_000008.11:69832047:G:T p.(Ala209Glu) NC_000008.11:69832047:G:T p.(Ala209Glu) NC_000008.11:69832047:G:T Identity +NM_019109.5:c.283G>A NP_061982.3:p.Ala95Thr NC_000016.10:5073024:G:A p.(Ala95Thr) NC_000016.10:5073024:G:A p.(Ala95Thr) NC_000016.10:5073024:G:A Identity +NM_001035506.1:c.1118A>G NP_001030583.1:p.Asn373Ser NC_000002.12:27055890:A:G ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001330360.2:c.3064G>A NP_001317289.1:p.Glu1022Lys NC_000023.11:24810773:G:A p.(Glu1022Lys) NC_000023.11:24810773:G:A p.(Glu1022Lys) NC_000023.11:24810773:G:A Identity +NM_002618.4:c.1138G>T NP_002609.1:p.Val380Phe NC_000002.12:61048695:G:T p.(Val380Phe) NC_000002.12:61048695:G:T p.(Val380Phe) NC_000002.12:61048695:G:T Identity +NM_021076.4:c.3019C>A NP_066554.2:p.Pro1007Thr NC_000022.11:29490658:C:A p.(Pro1007Thr) NC_000022.11:29490658:C:A p.(Pro1007Thr) NC_000022.11:29490658:C:A Identity +NM_001382235.1:c.1027G>A NP_001369164.1:p.Ala343Thr NC_000020.11:63433899:C:T p.(Ala343Thr) NC_000020.11:63433899:C:T p.(Ala343Thr) NC_000020.11:63433899:C:T Identity +NM_153603.4:c.1283T>C NP_705831.1:p.Leu428Pro NC_000016.10:23416975:A:G p.(Leu428Pro) NC_000016.10:23416975:A:G p.(Leu428Pro) NC_000016.10:23416975:A:G Identity +NM_003718.5:c.4351C>T NP_003709.3:p.His1451Tyr NC_000007.14:40094791:C:T p.(His1451Tyr) NC_000007.14:40094791:C:T p.(His1451Tyr) NC_000007.14:40094791:C:T Identity +NM_032444.4:c.5312T>C NP_115820.2:p.Leu1771Pro NC_000016.10:3582534:A:G p.(Leu1771Pro) NC_000016.10:3582534:A:G p.(Leu1771Pro) NC_000016.10:3582534:A:G Identity +NM_001288607.2:c.2683G>A NP_001275536.1:p.Asp895Asn NC_000001.11:150559322:G:A p.(Asp895Asn) NC_000001.11:150559322:G:A p.(Asp895Asn) NC_000001.11:150559322:G:A Identity +NM_001291411.2:c.451G>C NP_001278340.2:p.Glu151Gln NC_000021.9:33549681:G:C p.(Glu151Gln) NC_000021.9:33549681:G:C p.(Glu151Gln) NC_000021.9:33549681:G:C Identity +NM_001077182.3:c.886A>G NP_001070650.1:p.Ile296Val NC_000017.11:81535110:A:G p.(Ile296Val) NC_000017.11:81535110:A:G p.(Ile296Val) NC_000017.11:81535110:A:G Identity +NM_005861.4:c.43G>T NP_005852.2:p.Ala15Ser NC_000016.10:680567:G:T p.(Ala15Ser) NC_000016.10:680567:G:T p.(Ala15Ser) NC_000016.10:680567:G:T Identity +NM_004204.5:c.1139G>A NP_004195.2:p.Gly380Asp NC_000016.10:578853:G:A p.(Gly380Asp) NC_000016.10:578853:G:A p.(Gly380Asp) NC_000016.10:578853:G:A Identity +NM_080647.1:c.1354C>T NP_542378.1:p.Pro452Ser NC_000022.11:19766732:C:T p.(Pro452Ser) NC_000022.11:19766732:C:T p.(Pro452Ser) NC_000022.11:19766732:C:T Identity +NM_001315529.2:c.6416A>G NP_001302458.1:p.Asp2139Gly NC_000021.9:46416687:A:G p.(Asp2139Gly) NC_000021.9:46416687:A:G p.(Asp2139Gly) NC_000021.9:46416687:A:G Identity +NM_001326358.2:c.2543G>A NP_001313287.1:p.Gly848Asp NC_000016.10:77293205:C:T p.(Gly848Asp) NC_000016.10:77293205:C:T p.(Gly848Asp) NC_000016.10:77293205:C:T Identity +NM_001318193.2:c.500C>G NP_001305122.2:p.Thr167Ser NC_000016.10:2043580:G:C p.(Thr167Ser) NC_000016.10:2043580:G:C p.(Thr167Ser) NC_000016.10:2043580:G:C Identity +NM_000059.4:c.6466T>G NP_000050.3:p.Ser2156Ala NC_000013.11:32340820:T:G p.(Ser2156Ala) NC_000013.11:32340820:T:G p.(Ser2156Ala) NC_000013.11:32340820:T:G Identity +NM_015884.4:c.1123A>G NP_056968.1:p.Lys375Glu NC_000023.11:21878553:A:G p.(Lys375Glu) NC_000023.11:21878553:A:G p.(Lys375Glu) NC_000023.11:21878553:A:G Identity +NM_001151.4:c.613C>T NP_001142.2:p.Pro205Ser NC_000004.12:185145772:C:T p.(Pro205Ser) NC_000004.12:185145772:C:T p.(Pro205Ser) NC_000004.12:185145772:C:T Identity +NM_000038.6:c.7724C>A NP_000029.2:p.Ser2575Tyr NC_000005.10:112843317:C:A p.(Ser2575Tyr) NC_000005.10:112843317:C:A p.(Ser2575Tyr) NC_000005.10:112843317:C:A Identity +NM_001165963.4:c.29G>C NP_001159435.1:p.Gly10Ala NC_000002.12:166073592:C:G p.(Gly10Ala) NC_000002.12:166073592:C:G p.(Gly10Ala) NC_000002.12:166073592:C:G Identity +NM_000245.4:c.3053A>G NP_000236.2:p.Asn1018Ser NC_000007.14:116774904:A:G p.(Asn1018Ser) NC_000007.14:116774904:A:G p.(Asn1018Ser) NC_000007.14:116774904:A:G Identity +NM_001130110.2:c.10A>G NP_001123582.1:p.Arg4Gly NC_000018.10:44701355:A:G p.(Arg4Gly) NC_000018.10:44701355:A:G p.(Arg4Gly) NC_000018.10:44701355:A:G Identity +NM_001099400.2:c.320C>T NP_001092870.1:p.Thr107Ile NC_000007.14:94628271:G:A p.(Thr107Ile) NC_000007.14:94628271:G:A p.(Thr107Ile) NC_000007.14:94628271:G:A Identity +NM_000709.4:c.623C>T NP_000700.1:p.Pro208Leu NC_000019.10:41419272:C:T p.(Pro208Leu) NC_000019.10:41419272:C:T p.(Pro208Leu) NC_000019.10:41419272:C:T Identity +NM_001111125.3:c.1402G>C NP_001104595.1:p.Val468Leu NC_000023.11:53251173:C:G p.(Val468Leu) NC_000023.11:53251173:C:G p.(Val468Leu) NC_000023.11:53251173:C:G Identity +NM_024753.5:c.766T>G NP_079029.3:p.Tyr256Asp NC_000002.12:165933001:A:C p.(Tyr256Asp) NC_000002.12:165933001:A:C p.(Tyr256Asp) NC_000002.12:165933001:A:C Identity +NM_000491.5:c.19T>G NP_000482.3:p.Trp7Gly NC_000001.11:22659474:T:G p.(Trp7Gly) NC_000001.11:22659474:T:G p.(Trp7Gly) NC_000001.11:22659474:T:G Identity +NM_001142763.2:c.2729T>G NP_001136235.1:p.Met910Arg NC_000010.11:54020228:A:C p.(Met910Arg) NC_000010.11:54020228:A:C p.(Met910Arg) NC_000010.11:54020228:A:C Identity +NM_002470.4:c.5490G>T NP_002461.2:p.Glu1830Asp NC_000017.11:10630163:C:A p.(Glu1830Asp) NC_000017.11:10630163:C:A p.(Glu1830Asp) NC_000017.11:10630163:C:A Identity +NM_001135024.2:c.1081G>T NP_001128496.2:p.Gly361Trp NC_000011.10:34994926:G:T p.(Gly361Trp) NC_000011.10:34994926:G:T p.(Gly361Trp) NC_000011.10:34994926:G:T Identity +NM_002180.3:c.193G>A NP_002171.2:p.Val65Ile NC_000011.10:68906174:G:A p.(Val65Ile) NC_000011.10:68906174:G:A p.(Val65Ile) NC_000011.10:68906174:G:A Identity +NM_001351527.2:c.5309A>G NP_001338456.1:p.Glu1770Gly NC_000009.12:132311821:T:C p.(Glu1770Gly) NC_000009.12:132311821:T:C p.(Glu1770Gly) NC_000009.12:132311821:T:C Identity +NM_017890.5:c.4912A>G NP_060360.3:p.Thr1638Ala NC_000008.11:99556540:A:G p.(Thr1638Ala) NC_000008.11:99556540:A:G p.(Thr1638Ala) NC_000008.11:99556540:A:G Identity +NM_015295.3:c.1907A>T NP_056110.2:p.Asp636Val NC_000018.10:2705757:A:T p.(Asp636Val) NC_000018.10:2705757:A:T p.(Asp636Val) NC_000018.10:2705757:A:T Identity +NM_001005207.5:c.745C>G NP_001005207.1:p.Gln249Glu NC_000017.11:59070886:G:C p.(Gln249Glu) NC_000017.11:59070886:G:C p.(Gln249Glu) NC_000017.11:59070886:G:C Identity +NM_000533.5:c.169G>A NP_000524.3:p.Asp57Asn NC_000023.11:103785745:G:A p.(Asp57Asn) NC_000023.11:103785745:G:A p.(Asp57Asn) NC_000023.11:103785745:G:A Identity +NM_001164281.3:c.43T>G NP_001157753.1:p.Tyr15Asp NC_000006.12:111592043:A:C p.(Tyr15Asp) NC_000006.12:111592043:A:C p.(Tyr15Asp) NC_000006.12:111592043:A:C Identity +NM_000245.4:c.3524A>G NP_000236.2:p.Asn1175Ser NC_000007.14:116781988:A:G p.(Asn1175Ser) NC_000007.14:116781988:A:G p.(Asn1175Ser) NC_000007.14:116781988:A:G Identity +NM_145167.3:c.1217A>C NP_660150.1:p.Gln406Pro NC_000001.11:160030522:T:G p.(Gln406Pro) NC_000001.11:160030522:T:G p.(Gln406Pro) NC_000001.11:160030522:T:G Identity +NM_004211.5:c.256C>G NP_004202.4:p.Arg86Gly NC_000011.10:20601380:C:G p.(Arg86Gly) NC_000011.10:20601380:C:G p.(Arg86Gly) NC_000011.10:20601380:C:G Identity +NM_001354705.2:c.824A>G NP_001341634.1:p.Glu275Gly NC_000012.12:57569656:A:G p.(Glu275Gly) NC_000012.12:57569656:A:G p.(Glu275Gly) NC_000012.12:57569656:A:G Identity +NM_000179.3:c.538G>C NP_000170.1:p.Asp180His NC_000002.12:47795973:G:C p.(Asp180His) NC_000002.12:47795973:G:C p.(Asp180His) NC_000002.12:47795973:G:C Identity +NM_007254.4:c.277C>G NP_009185.2:p.Leu93Val NC_000019.10:49865347:G:C p.(Leu93Val) NC_000019.10:49865347:G:C p.(Leu93Val) NC_000019.10:49865347:G:C Identity +NM_001321281.2:c.1964G>T NP_001308210.1:p.Arg655Leu NC_000019.10:49196537:G:T p.(Arg655Leu) NC_000019.10:49196537:G:T p.(Arg655Leu) NC_000019.10:49196537:G:T Identity +NM_006231.4:c.6286C>A NP_006222.2:p.Leu2096Met NC_000012.12:132632358:G:T p.(Leu2096Met) NC_000012.12:132632358:G:T p.(Leu2096Met) NC_000012.12:132632358:G:T Identity +NM_000059.4:c.4514C>G NP_000050.3:p.Thr1505Ser NC_000013.11:32338868:C:G p.(Thr1505Ser) NC_000013.11:32338868:C:G p.(Thr1505Ser) NC_000013.11:32338868:C:G Identity +NM_000083.3:c.814_815delinsAA NP_000074.3:p.Ala272Asn NC_000007.14:143324452:GC:AA p.(Ala272Asn) NC_000007.14:143324452:GC:AA p.(Ala272Asn) NC_000007.14:143324452:GC:AA Identity +NM_001321431.2:c.1121C>T NP_001308360.1:p.Pro374Leu NC_000019.10:8138220:G:A p.(Pro374Leu) NC_000019.10:8138220:G:A p.(Pro374Leu) NC_000019.10:8138220:G:A Identity +NM_000087.5:c.1473G>C NP_000078.3:p.Leu491Phe NC_000004.12:47937008:C:G p.(Leu491Phe) NC_000004.12:47937008:C:G p.(Leu491Phe) NC_000004.12:47937008:C:G Identity +NM_001142571.2:c.911C>T NP_001136043.1:p.Ala304Val NC_000017.11:35101252:G:A p.(Ala304Val) NC_000017.11:35101252:G:A p.(Ala304Val) NC_000017.11:35101252:G:A Identity +NM_001447.3:c.7039G>C NP_001438.1:p.Val2347Leu NC_000005.10:151544087:C:G p.(Val2347Leu) NC_000005.10:151544087:C:G p.(Val2347Leu) NC_000005.10:151544087:C:G Identity +NM_000065.5:c.1504A>T NP_000056.2:p.Thr502Ser NC_000005.10:41160321:T:A p.(Thr502Ser) NC_000005.10:41160321:T:A p.(Thr502Ser) NC_000005.10:41160321:T:A Identity +NM_004525.3:c.4022G>A NP_004516.2:p.Gly1341Glu NC_000002.12:169241010:C:T p.(Gly1341Glu) NC_000002.12:169241010:C:T p.(Gly1341Glu) NC_000002.12:169241010:C:T Identity +NM_001128148.3:c.1922G>T NP_001121620.1:p.Trp641Leu NC_000003.12:196053535:C:A p.(Trp641Leu) NC_000003.12:196053535:C:A p.(Trp641Leu) NC_000003.12:196053535:C:A Identity +NM_001080976.3:c.1243C>G NP_001074445.1:p.Leu415Val NC_000006.12:116435710:C:G p.(Leu415Val) NC_000006.12:116435710:C:G p.(Leu415Val) NC_000006.12:116435710:C:G Identity +NM_000334.4:c.395T>G NP_000325.4:p.Leu132Arg NC_000017.11:63972222:A:C p.(Leu132Arg) NC_000017.11:63972222:A:C p.(Leu132Arg) NC_000017.11:63972222:A:C Identity +NM_005751.5:c.3564T>G NP_005742.4:p.Ile1188Met NC_000007.14:92014279:T:G p.(Ile1188Met) NC_000007.14:92014279:T:G p.(Ile1188Met) NC_000007.14:92014279:T:G Identity +NM_001160036.2:c.280G>A NP_001153508.1:p.Val94Met NC_000008.11:23005392:G:A p.(Val94Met) NC_000008.11:23005392:G:A p.(Val94Met) NC_000008.11:23005392:G:A Identity +NM_001037.5:c.415G>T NP_001028.1:p.Val139Phe NC_000019.10:35033705:G:T p.(Val139Phe) NC_000019.10:35033705:G:T p.(Val139Phe) NC_000019.10:35033705:G:T Identity +NM_001031689.3:c.1613A>C NP_001026859.1:p.Lys538Thr NC_000009.12:26910381:T:G p.(Lys538Thr) NC_000009.12:26910381:T:G p.(Lys538Thr) NC_000009.12:26910381:T:G Identity +NM_000544.3:c.162G>T NP_000535.3:p.Lys54Asn NC_000006.12:32838071:C:A p.(Lys54Asn) NT_167244.2:4142937:C:A p.(Lys54Asn) NC_000006.12:4142937:C:A Identity +NM_002838.5:c.2750A>G NP_002829.3:p.Glu917Gly NC_000001.11:198744105:A:G p.(Glu917Gly) NC_000001.11:198744105:A:G p.(Glu917Gly) NC_000001.11:198744105:A:G Identity +NM_001160302.2:c.2314G>A NP_001153774.1:p.Gly772Arg NC_000021.9:32657862:C:T p.(Gly772Arg) NC_000021.9:32657862:C:T p.(Gly772Arg) NC_000021.9:32657862:C:T Identity +NM_001165412.2:c.2380G>C NP_001158884.1:p.Glu794Gln NC_000004.12:102612073:G:C p.(Glu794Gln) NC_000004.12:102612073:G:C p.(Glu794Gln) NC_000004.12:102612073:G:C Identity +NM_001004334.4:c.4154C>T NP_001004334.3:p.Ala1385Val NC_000017.11:38329414:G:A p.(Ala1385Val) NC_000017.11:38329414:G:A p.(Ala1385Val) NC_000017.11:38329414:G:A Identity +NM_001035.3:c.9494C>T NP_001026.2:p.Ala3165Val NC_000001.11:237705256:C:T p.(Ala3165Val) NC_000001.11:237705256:C:T p.(Ala3165Val) NC_000001.11:237705256:C:T Identity +NM_015450.3:c.208C>G NP_056265.2:p.Pro70Ala NC_000007.14:124870957:G:C p.(Pro70Ala) NC_000007.14:124870957:G:C p.(Pro70Ala) NC_000007.14:124870957:G:C Identity +NM_018706.7:c.847A>T NP_061176.4:p.Met283Leu NC_000010.11:12089114:A:T p.(Met283Leu) NC_000010.11:12089114:A:T p.(Met283Leu) NC_000010.11:12089114:A:T Identity +NM_001271.4:c.5233T>C NP_001262.3:p.Ser1745Pro NC_000015.10:93024450:T:C p.(Ser1745Pro) NC_000015.10:93024450:T:C p.(Ser1745Pro) NC_000015.10:93024450:T:C Identity +NM_015425.6:c.2688G>C NP_056240.2:p.Met896Ile NC_000002.12:86047209:C:G p.(Met896Ile) NC_000002.12:86047209:C:G p.(Met896Ile) NC_000002.12:86047209:C:G Identity +NM_000760.4:c.1129C>T NP_000751.1:p.Pro377Ser NC_000001.11:36471588:G:A p.(Pro377Ser) NC_000001.11:36471588:G:A p.(Pro377Ser) NC_000001.11:36471588:G:A Identity +NM_001126131.2:c.3145T>C NP_001119603.1:p.Trp1049Arg NC_000015.10:89319058:A:G p.(Trp1049Arg) NC_000015.10:89319058:A:G p.(Trp1049Arg) NC_000015.10:89319058:A:G Identity +NM_000257.4:c.3368A>C NP_000248.2:p.Glu1123Ala NC_000014.9:23420202:T:G p.(Glu1123Ala) NC_000014.9:23420202:T:G p.(Glu1123Ala) NC_000014.9:23420202:T:G Identity +NM_145262.4:c.1514C>G NP_660305.2:p.Thr505Arg NC_000003.12:52293067:C:G p.(Thr505Arg) NC_000003.12:52293067:C:G p.(Thr505Arg) NC_000003.12:52293067:C:G Identity +NM_001177984.3:c.4763G>C NP_001171455.1:p.Arg1588Pro NC_000012.12:51806371:G:C p.(Arg1588Pro) NC_000012.12:51806371:G:C p.(Arg1588Pro) NC_000012.12:51806371:G:C Identity +NM_001042399.2:c.1915C>G NP_001035858.1:p.Pro639Ala NC_000012.12:94310003:G:C p.(Pro639Ala) NC_000012.12:94310003:G:C p.(Pro639Ala) NC_000012.12:94310003:G:C Identity +NM_001297644.1:c.377A>G NP_001284573.1:p.Lys126Arg NC_000005.10:64783959:A:G p.(Lys126Arg) NC_000005.10:64783959:A:G p.(Lys126Arg) NC_000005.10:64783959:A:G Identity +NM_001256944.2:c.1738A>T NP_001243873.1:p.Met580Leu NC_000023.11:10220704:A:T p.(Met580Leu) NC_000023.11:10220704:A:T p.(Met580Leu) NC_000023.11:10220704:A:T Identity +NM_003079.5:c.1037A>G NP_003070.3:p.His346Arg NC_000017.11:40628983:T:C p.(His346Arg) NC_000017.11:40628983:T:C p.(His346Arg) NC_000017.11:40628983:T:C Identity +NM_002661.5:c.3738G>C NP_002652.2:p.Gln1246His NC_000016.10:81956861:G:C p.(Gln1246His) NC_000016.10:81956861:G:C p.(Gln1246His) NC_000016.10:81956861:G:C Identity +NM_001558.4:c.742G>A NP_001549.2:p.Gly248Arg NC_000011.10:117995641:G:A p.(Gly248Arg) NC_000011.10:117995641:G:A p.(Gly248Arg) NC_000011.10:117995641:G:A Identity +NM_001195286.2:c.91C>G NP_001182215.1:p.Gln31Glu NC_000006.12:393242:C:G p.(Gln31Glu) NC_000006.12:393242:C:G p.(Gln31Glu) NC_000006.12:393242:C:G Identity +NM_001363907.1:c.1098T>A NP_001350836.1:p.Asp366Glu NC_000016.10:85920187:T:A p.(Asp366Glu) NC_000016.10:85920187:T:A p.(Asp366Glu) NC_000016.10:85920187:T:A Identity +NM_000342.4:c.494G>A NP_000333.1:p.Gly165Glu NC_000017.11:44259923:C:T p.(Gly165Glu) NC_000017.11:44259923:C:T p.(Gly165Glu) NC_000017.11:44259923:C:T Identity +NM_000051.4:c.3509A>T NP_000042.3:p.Lys1170Ile NC_000011.10:108281100:A:T p.(Lys1170Ile) NC_000011.10:108281100:A:T p.(Lys1170Ile) NC_000011.10:108281100:A:T Identity +NM_001410908.1:c.1052C>T NP_001397837.1:p.Pro351Leu NC_000007.14:105077354:C:T p.(Pro351Leu) NC_000007.14:105077354:C:T p.(Pro351Leu) NC_000007.14:105077354:C:T Identity +NM_001185039.2:c.458C>T NP_001171968.1:p.Ala153Val NC_000017.11:75955913:G:A p.(Ala153Val) NC_000017.11:75955913:G:A p.(Ala153Val) NC_000017.11:75955913:G:A Identity +NM_002547.3:c.1469A>G NP_002538.1:p.Tyr490Cys NC_000023.11:68111910:T:C p.(Tyr490Cys) NC_000023.11:68111910:T:C p.(Tyr490Cys) NC_000023.11:68111910:T:C Identity +NM_001330166.2:c.194G>T NP_001317095.1:p.Arg65Leu NC_000017.11:28547807:C:A p.(Arg65Leu) NC_000017.11:28547807:C:A p.(Arg65Leu) NC_000017.11:28547807:C:A Identity +NM_000038.6:c.1535A>G NP_000029.2:p.Asp512Gly NC_000005.10:112827233:A:G p.(Asp512Gly) NC_000005.10:112827233:A:G p.(Asp512Gly) NC_000005.10:112827233:A:G Identity +NM_001288705.3:c.1520C>A NP_001275634.1:p.Thr507Lys NC_000005.10:150068320:G:T p.(Thr507Lys) NC_000005.10:150068320:G:T p.(Thr507Lys) NC_000005.10:150068320:G:T Identity +NM_000458.4:c.130G>C NP_000449.1:p.Glu44Gln NC_000017.11:37744754:C:G p.(Glu44Gln) NC_000017.11:37744754:C:G p.(Glu44Gln) NC_000017.11:37744754:C:G Identity +NM_001288653.2:c.2438C>G NP_001275582.1:p.Pro813Arg NC_000017.11:59674707:C:G p.(Pro813Arg) NC_000017.11:59674707:C:G p.(Pro813Arg) NC_000017.11:59674707:C:G Identity +NM_001040113.2:c.4706A>T NP_001035202.1:p.Lys1569Ile NC_000016.10:15720944:T:A p.(Lys1569Ile) NC_000016.10:15720944:T:A p.(Lys1569Ile) NC_000016.10:15720944:T:A Identity +NM_000335.5:c.3392C>G NP_000326.2:p.Pro1131Arg NC_000003.12:38576776:G:C p.(Pro1131Arg) NC_000003.12:38576776:G:C p.(Pro1131Arg) NC_000003.12:38576776:G:C Identity +NM_001170629.2:c.5622C>A NP_001164100.1:p.Phe1874Leu NC_000014.9:21394172:G:T p.(Phe1874Leu) NC_000014.9:21394172:G:T p.(Phe1874Leu) NC_000014.9:21394172:G:T Identity +NM_001220.5:c.1553C>G NP_001211.3:p.Pro518Arg NC_000007.14:44226559:G:C p.(Pro518Arg) NC_000007.14:44226559:G:C p.(Pro518Arg) NC_000007.14:44226559:G:C Identity +NM_001844.5:c.164G>A NP_001835.3:p.Cys55Tyr NC_000012.12:48000046:C:T p.(Cys55Tyr) NC_000012.12:48000046:C:T p.(Cys55Tyr) NC_000012.12:48000046:C:T Identity +NM_015629.4:c.832G>A NP_056444.3:p.Asp278Asn NC_000019.10:54124632:G:A p.(Asp278Asn) NC_000019.10:54124632:G:A p.(Asp278Asn) NC_000019.10:54124632:G:A Identity +NM_001277961.3:c.2043_2044delinsTA NP_001264890.1:p.Pro682Thr NC_000011.10:4091464:CC:TA p.(Pro682Thr) NC_000011.10:4091464:CC:TA p.(Pro682Thr) NC_000011.10:4091464:CC:TA Identity +NM_000318.3:c.494C>A NP_000309.2:p.Thr165Asn NC_000008.11:76983684:G:T p.(Thr165Asn) NC_000008.11:76983684:G:T p.(Thr165Asn) NC_000008.11:76983684:G:T Identity +NM_000214.3:c.3487A>G NP_000205.1:p.Lys1163Glu NC_000020.11:10639667:T:C p.(Lys1163Glu) NC_000020.11:10639667:T:C p.(Lys1163Glu) NC_000020.11:10639667:T:C Identity +NM_000038.6:c.6049A>G NP_000029.2:p.Thr2017Ala NC_000005.10:112841642:A:G p.(Thr2017Ala) NC_000005.10:112841642:A:G p.(Thr2017Ala) NC_000005.10:112841642:A:G Identity +NM_001375344.1:c.179A>T NP_001362273.1:p.Lys60Ile NC_000005.10:162093898:A:T p.(Lys60Ile) NC_000005.10:162093898:A:T p.(Lys60Ile) NC_000005.10:162093898:A:T Identity +NM_000268.4:c.509C>T NP_000259.1:p.Pro170Leu NC_000022.11:29654717:C:T p.(Pro170Leu) NC_000022.11:29654717:C:T p.(Pro170Leu) NC_000022.11:29654717:C:T Identity +NM_015335.5:c.4639C>T NP_056150.1:p.Pro1547Ser NC_000012.12:115983432:G:A p.(Pro1547Ser) NC_000012.12:115983432:G:A p.(Pro1547Ser) NC_000012.12:115983432:G:A Identity +NM_001350234.2:c.842C>T NP_001337163.1:p.Ser281Phe NC_000001.11:9717019:C:T p.(Ser281Phe) NC_000001.11:9717019:C:T p.(Ser281Phe) NC_000001.11:9717019:C:T Identity +NM_001396000.1:c.1538T>A NP_001382929.1:p.Leu513Gln NC_000019.10:41901988:T:A p.(Leu513Gln) NC_000019.10:41901988:T:A p.(Leu513Gln) NC_000019.10:41901988:T:A Identity +NM_032043.3:c.3535G>A NP_114432.2:p.Val1179Ile NC_000017.11:61683510:C:T p.(Val1179Ile) NC_000017.11:61683510:C:T p.(Val1179Ile) NC_000017.11:61683510:C:T Identity +NM_001077493.1:c.1936G>A NP_001070961.1:p.Glu646Lys NC_000010.11:102400791:G:A ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001164507.2:c.20407G>A NP_001157979.2:p.Gly6803Ser NC_000002.12:151546403:C:T p.(Gly6803Ser) NC_000002.12:151546403:C:T p.(Gly6803Ser) NC_000002.12:151546403:C:T Identity +NM_001256442.2:c.319G>A NP_001243371.1:p.Glu107Lys NC_000016.10:29813372:G:A p.(Glu107Lys) NC_000016.10:29813372:G:A p.(Glu107Lys) NC_000016.10:29813372:G:A Identity +NM_001845.6:c.4290G>C NP_001836.3:p.Leu1430Phe NC_000013.11:110162401:C:G p.(Leu1430Phe) NC_000013.11:110162401:C:G p.(Leu1430Phe) NC_000013.11:110162401:C:G Identity +NM_001272003.2:c.958C>A NP_001258932.1:p.Arg320Ser NC_000009.12:135765087:C:A p.(Arg320Ser) NC_000009.12:135765087:C:A p.(Arg320Ser) NC_000009.12:135765087:C:A Identity +NM_006922.4:c.1886G>T NP_008853.3:p.Ser629Ile NC_000002.12:165140783:C:A p.(Ser629Ile) NC_000002.12:165140783:C:A p.(Ser629Ile) NC_000002.12:165140783:C:A Identity +NM_001291415.2:c.3654G>C NP_001278344.1:p.Trp1218Cys NC_000023.11:45085928:G:C p.(Trp1218Cys) NC_000023.11:45085928:G:C p.(Trp1218Cys) NC_000023.11:45085928:G:C Identity +NM_001379141.1:c.1236T>G NP_001366070.1:p.Asp412Glu NC_000018.10:44950575:T:G p.(Asp412Glu) NC_000018.10:44950575:T:G p.(Asp412Glu) NC_000018.10:44950575:T:G Identity +NM_001410975.1:c.2539T>C NP_001397904.1:p.Tyr847His NC_000002.12:201733316:A:G p.(Tyr847His) NC_000002.12:201733316:A:G p.(Tyr847His) NC_000002.12:201733316:A:G Identity +NM_001376.5:c.1358A>G NP_001367.2:p.Asn453Ser NC_000014.9:101983505:A:G p.(Asn453Ser) NC_000014.9:101983505:A:G p.(Asn453Ser) NC_000014.9:101983505:A:G Identity +NM_001111125.3:c.3872C>T NP_001104595.1:p.Pro1291Leu NC_000023.11:53234813:G:A p.(Pro1291Leu) NC_000023.11:53234813:G:A p.(Pro1291Leu) NC_000023.11:53234813:G:A Identity +NM_015180.6:c.8528T>A NP_055995.4:p.Ile2843Lys NC_000014.9:64052440:T:A p.(Ile2843Lys) NC_000014.9:64052440:T:A p.(Ile2843Lys) NC_000014.9:64052440:T:A Identity +NM_004304.5:c.1931T>C NP_004295.2:p.Ile644Thr NC_000002.12:29275208:A:G p.(Ile644Thr) NC_000002.12:29275208:A:G p.(Ile644Thr) NC_000002.12:29275208:A:G Identity +NM_000075.4:c.845A>G NP_000066.1:p.Lys282Arg NC_000012.12:57748591:T:C p.(Lys282Arg) NC_000012.12:57748591:T:C p.(Lys282Arg) NC_000012.12:57748591:T:C Identity +NM_001318194.2:c.68A>C NP_001305123.1:p.Gln23Pro NC_000016.10:2044756:T:G p.(Gln23Pro) NC_000016.10:2044756:T:G p.(Gln23Pro) NC_000016.10:2044756:T:G Identity +NM_000245.4:c.2606_2607delinsAG NP_000236.2:p.Ala869Glu NC_000007.14:116769666:CA:AG p.(Ala869Glu) NC_000007.14:116769666:CA:AG p.(Ala869Glu) NC_000007.14:116769666:CA:AG Identity +NM_144701.3:c.105G>T NP_653302.2:p.Trp35Cys NC_000001.11:67169375:G:T p.(Trp35Cys) NC_000001.11:67169375:G:T p.(Trp35Cys) NC_000001.11:67169375:G:T Identity +NM_001410772.1:c.1073A>T NP_001397701.1:p.Asp358Val NC_000003.12:52404575:T:A p.(Asp358Val) NC_000003.12:52404575:T:A p.(Asp358Val) NC_000003.12:52404575:T:A Identity +NM_001142763.2:c.2051A>G NP_001136235.1:p.Glu684Gly NC_000010.11:54079385:T:C p.(Glu684Gly) NC_000010.11:54079385:T:C p.(Glu684Gly) NC_000010.11:54079385:T:C Identity +NM_000057.4:c.3135T>G NP_000048.1:p.Phe1045Leu NC_000015.10:90794281:T:G p.(Phe1045Leu) NC_000015.10:90794281:T:G p.(Phe1045Leu) NC_000015.10:90794281:T:G Identity +NM_006947.4:c.705T>G NP_008878.3:p.Ile235Met NC_000004.12:56478440:T:G p.(Ile235Met) NC_000004.12:56478440:T:G p.(Ile235Met) NC_000004.12:56478440:T:G Identity +NM_000138.5:c.5293G>T NP_000129.3:p.Val1765Phe NC_000015.10:48460248:C:A p.(Val1765Phe) NC_000015.10:48460248:C:A p.(Val1765Phe) NC_000015.10:48460248:C:A Identity +NM_001195573.1:c.4361A>G NP_001182502.1:p.Asp1454Gly NC_000014.9:95096558:T:C p.(Asp1454Gly) NC_000014.9:95096558:T:C p.(Asp1454Gly) NC_000014.9:95096558:T:C Identity +NM_001098511.3:c.27C>G NP_001091981.1:p.Ile9Met NC_000005.10:62306498:C:G p.(Ile9Met) NC_000005.10:62306498:C:G p.(Ile9Met) NC_000005.10:62306498:C:G Identity +NM_006231.4:c.2013G>C NP_006222.2:p.Trp671Cys NC_000012.12:132668647:C:G p.(Trp671Cys) NC_000012.12:132668647:C:G p.(Trp671Cys) NC_000012.12:132668647:C:G Identity +NM_031935.3:c.6422G>C NP_114141.2:p.Gly2141Ala NC_000001.11:186045804:G:C p.(Gly2141Ala) NC_000001.11:186045804:G:C p.(Gly2141Ala) NC_000001.11:186045804:G:C Identity +NM_001734.5:c.8G>T NP_001725.1:p.Cys3Phe NC_000012.12:7062476:G:T p.(Cys3Phe) NC_000012.12:7062476:G:T p.(Cys3Phe) NC_000012.12:7062476:G:T Identity +NM_001142339.3:c.20A>T NP_001135811.1:p.Asn7Ile NC_000018.10:11752452:A:T p.(Asn7Ile) NC_000018.10:11752452:A:T p.(Asn7Ile) NC_000018.10:11752452:A:T Identity +NM_001406619.1:c.5A>G NP_001393548.1:p.Asp2Gly NC_000009.12:132923487:T:C p.(Asp2Gly) NC_000009.12:132923487:T:C p.(Asp2Gly) NC_000009.12:132923487:T:C Identity +NM_001165963.4:c.1205T>G NP_001159435.1:p.Phe402Cys NC_000002.12:166046941:A:C p.(Phe402Cys) NC_000002.12:166046941:A:C p.(Phe402Cys) NC_000002.12:166046941:A:C Identity +NM_000186.4:c.2437C>A NP_000177.2:p.Pro813Thr NC_000001.11:196736846:C:A p.(Pro813Thr) NC_000001.11:196736846:C:A p.(Pro813Thr) NC_000001.11:196736846:C:A Identity +NM_001008211.1:c.226A>G NP_001008212.1:p.Thr76Ala NC_000010.11:13110332:A:G p.(Thr76Ala) NC_000010.11:13110332:A:G p.(Thr76Ala) NC_000010.11:13110332:A:G Identity +NM_001145412.3:c.83A>T NP_001138884.1:p.Lys28Ile NC_000002.12:177234185:T:A p.(Lys28Ile) NC_000002.12:177234185:T:A p.(Lys28Ile) NC_000002.12:177234185:T:A Identity +NM_001102406.2:c.1913T>C NP_001095876.1:p.Met638Thr NC_000004.12:112431459:T:C p.(Met638Thr) NC_000004.12:112431459:T:C p.(Met638Thr) NC_000004.12:112431459:T:C Identity +NM_172364.5:c.1957T>C NP_758952.4:p.Ser653Pro NC_000012.12:1858627:A:G p.(Ser653Pro) NC_000012.12:1858627:A:G p.(Ser653Pro) NC_000012.12:1858627:A:G Identity +NM_001354620.2:c.253T>C NP_001341549.1:p.Tyr85His NC_000003.12:37011820:T:C p.(Tyr85His) NC_000003.12:37011820:T:C p.(Tyr85His) NC_000003.12:37011820:T:C Identity +NM_001005407.2:c.6272C>T NP_001005407.1:p.Ala2091Val NC_000016.10:1220221:C:T p.(Ala2091Val) NC_000016.10:1220221:C:T p.(Ala2091Val) NC_000016.10:1220221:C:T Identity +NM_001540.5:c.155C>G NP_001531.1:p.Pro52Arg NC_000007.14:76302866:C:G p.(Pro52Arg) NC_000007.14:76302866:C:G p.(Pro52Arg) NC_000007.14:76302866:C:G Identity +NM_001354705.2:c.1847G>T NP_001341634.1:p.Ser616Ile NC_000012.12:57576293:G:T p.(Ser616Ile) NC_000012.12:57576293:G:T p.(Ser616Ile) NC_000012.12:57576293:G:T Identity +NM_002769.5:c.185G>T NP_002760.1:p.Gly62Val NC_000007.14:142750698:G:T p.(Gly62Val) NC_000007.14:142750698:G:T p.(Gly62Val) NC_000007.14:142750698:G:T Identity +NM_001164507.2:c.18908A>C NP_001157979.2:p.Asp6303Ala NC_000002.12:151562197:T:G p.(Asp6303Ala) NC_000002.12:151562197:T:G p.(Asp6303Ala) NC_000002.12:151562197:T:G Identity +NM_000091.5:c.2525G>A NP_000082.2:p.Gly842Glu NC_000002.12:227282400:G:A p.(Gly842Glu) NC_000002.12:227282400:G:A p.(Gly842Glu) NC_000002.12:227282400:G:A Identity +NM_005188.4:c.2694T>G NP_005179.2:p.Ile898Met NC_000011.10:119299753:T:G p.(Ile898Met) NC_000011.10:119299753:T:G p.(Ile898Met) NC_000011.10:119299753:T:G Identity +NM_000038.6:c.7240G>C NP_000029.2:p.Val2414Leu NC_000005.10:112842833:G:C p.(Val2414Leu) NC_000005.10:112842833:G:C p.(Val2414Leu) NC_000005.10:112842833:G:C Identity +NM_032043.3:c.3341A>C NP_114432.2:p.Gln1114Pro NC_000017.11:61683704:T:G p.(Gln1114Pro) NC_000017.11:61683704:T:G p.(Gln1114Pro) NC_000017.11:61683704:T:G Identity +NM_006766.5:c.3397G>A NP_006757.2:p.Val1133Met NC_000008.11:41934822:C:T p.(Val1133Met) NC_000008.11:41934822:C:T p.(Val1133Met) NC_000008.11:41934822:C:T Identity +NM_001130066.2:c.1153T>C NP_001123538.1:p.Ser385Pro NC_000006.12:33438057:T:C p.(Ser385Pro) NC_000006.12:33438057:T:C p.(Ser385Pro) NC_000006.12:33438057:T:C Identity +NM_001079846.1:c.1133G>T NP_001073315.1:p.Arg378Leu NC_000016.10:3793468:C:A p.(Arg378Leu) NC_000016.10:3793468:C:A p.(Arg378Leu) NC_000016.10:3793468:C:A Identity +NM_000720.4:c.6229A>C NP_000711.1:p.Ser2077Arg NC_000003.12:53810274:A:C p.(Ser2077Arg) NC_000003.12:53810274:A:C p.(Ser2077Arg) NC_000003.12:53810274:A:C Identity +NM_000329.3:c.652G>T NP_000320.1:p.Asp218Tyr NC_000001.11:68439633:C:A p.(Asp218Tyr) NC_000001.11:68439633:C:A p.(Asp218Tyr) NC_000001.11:68439633:C:A Identity +NM_020778.5:c.2827G>A NP_065829.4:p.Glu943Lys NC_000015.10:84857564:G:A p.(Glu943Lys) NC_000015.10:84857564:G:A p.(Glu943Lys) NC_000015.10:84857564:G:A Identity +NM_001134232.2:c.781T>A NP_001127704.1:p.Leu261Met NC_000007.14:12231930:T:A p.(Leu261Met) NC_000007.14:12231930:T:A p.(Leu261Met) NC_000007.14:12231930:T:A Identity +NM_006361.6:c.715A>G NP_006352.2:p.Lys239Glu NC_000017.11:48726929:T:C p.(Lys239Glu) NC_000017.11:48726929:T:C p.(Lys239Glu) NC_000017.11:48726929:T:C Identity +NM_001358921.2:c.744T>A NP_001345850.1:p.Asp248Glu NC_000004.12:83269877:A:T p.(Asp248Glu) NC_000004.12:83269877:A:T p.(Asp248Glu) NC_000004.12:83269877:A:T Identity +NM_001317061.3:c.943C>A NP_001303990.1:p.Pro315Thr NC_000006.12:3105906:C:A p.(Pro315Thr) NC_000006.12:3105906:C:A p.(Pro315Thr) NC_000006.12:3105906:C:A Identity +NM_001005242.3:c.1942A>G NP_001005242.2:p.Lys648Glu NC_000012.12:32821426:T:C p.(Lys648Glu) NC_000012.12:32821426:T:C p.(Lys648Glu) NC_000012.12:32821426:T:C Identity +NM_001069.3:c.641C>T NP_001060.1:p.Thr214Ile NC_000006.12:3154559:G:A p.(Thr214Ile) NC_000006.12:3154559:G:A p.(Thr214Ile) NC_000006.12:3154559:G:A Identity +NM_001204824.2:c.451A>C NP_001191753.1:p.Thr151Pro NC_000008.11:132175574:T:G p.(Thr151Pro) NC_000008.11:132175574:T:G p.(Thr151Pro) NC_000008.11:132175574:T:G Identity +NM_001136536.5:c.811G>A NP_001130008.2:p.Ala271Thr NC_000004.12:36306227:G:A p.(Ala271Thr) NC_000004.12:36306227:G:A p.(Ala271Thr) NC_000004.12:36306227:G:A Identity +NM_001161520.2:c.1511C>T NP_001154992.2:p.Thr504Ile NC_000007.14:107281363:G:A p.(Thr504Ile) NC_000007.14:107281363:G:A p.(Thr504Ile) NC_000007.14:107281363:G:A Identity +NM_001303256.3:c.2678G>C NP_001290185.1:p.Arg893Pro NC_000022.11:30932613:C:G p.(Arg893Pro) NC_000022.11:30932613:C:G p.(Arg893Pro) NC_000022.11:30932613:C:G Identity +NM_000038.6:c.3153A>T NP_000029.2:p.Arg1051Ser NC_000005.10:112838746:A:T p.(Arg1051Ser) NC_000005.10:112838746:A:T p.(Arg1051Ser) NC_000005.10:112838746:A:T Identity +NM_001114331.3:c.1892C>T NP_001107803.1:p.Ala631Val NC_000016.10:1448403:G:A p.(Ala631Val) NC_000016.10:1448403:G:A p.(Ala631Val) NC_000016.10:1448403:G:A Identity +NM_001244580.2:c.1537C>G NP_001231509.1:p.Pro513Ala NC_000007.14:98910241:C:G p.(Pro513Ala) NC_000007.14:98910241:C:G p.(Pro513Ala) NC_000007.14:98910241:C:G Identity +NM_001005336.3:c.2164G>T NP_001005336.1:p.Ala722Ser NC_000009.12:128250201:G:T p.(Ala722Ser) NC_000009.12:128250201:G:T p.(Ala722Ser) NC_000009.12:128250201:G:T Identity +NM_001160147.2:c.812G>A NP_001153619.1:p.Gly271Glu NC_000014.9:53152286:C:T p.(Gly271Glu) NC_000014.9:53152286:C:T p.(Gly271Glu) NC_000014.9:53152286:C:T Identity +NM_001354768.3:c.693C>G NP_001341697.1:p.Asp231Glu NC_000014.9:24081256:G:C p.(Asp231Glu) NC_000014.9:24081256:G:C p.(Asp231Glu) NC_000014.9:24081256:G:C Identity +NM_004963.4:c.1096C>A NP_004954.2:p.Pro366Thr NC_000012.12:14672946:G:T p.(Pro366Thr) NC_000012.12:14672946:G:T p.(Pro366Thr) NC_000012.12:14672946:G:T Identity +NM_005732.4:c.3452G>T NP_005723.2:p.Trp1151Leu NC_000005.10:132637176:G:T p.(Trp1151Leu) NC_000005.10:132637176:G:T p.(Trp1151Leu) NC_000005.10:132637176:G:T Identity +NM_001281463.1:c.2225A>G NP_001268392.1:p.Asp742Gly NC_000023.11:53403798:T:C p.(Asp742Gly) NC_000023.11:53403798:T:C p.(Asp742Gly) NC_000023.11:53403798:T:C Identity +NM_001258392.3:c.1976C>G NP_001245321.1:p.Thr659Ser NC_000011.10:72293424:G:C p.(Thr659Ser) NC_000011.10:72293424:G:C p.(Thr659Ser) NC_000011.10:72293424:G:C Identity +NM_001040142.2:c.1361A>T NP_001035232.1:p.Lys454Ile NC_000002.12:165314085:A:T p.(Lys454Ile) NC_000002.12:165314085:A:T p.(Lys454Ile) NC_000002.12:165314085:A:T Identity +NM_001270507.2:c.2284T>G NP_001257436.1:p.Cys762Gly NC_000006.12:137881229:T:G p.(Cys762Gly) NC_000006.12:137881229:T:G p.(Cys762Gly) NC_000006.12:137881229:T:G Identity +NM_001130438.3:c.6877G>A NP_001123910.1:p.Val2293Met NC_000009.12:128632240:G:A p.(Val2293Met) NC_000009.12:128632240:G:A p.(Val2293Met) NC_000009.12:128632240:G:A Identity +NM_001007468.3:c.259G>A NP_001007469.1:p.Val87Met NC_000022.11:23793611:G:A p.(Val87Met) NC_000022.11:23793611:G:A p.(Val87Met) NC_000022.11:23793611:G:A Identity +NM_000065.5:c.1937A>G NP_000056.2:p.Gln646Arg NC_000005.10:41158704:T:C p.(Gln646Arg) NC_000005.10:41158704:T:C p.(Gln646Arg) NC_000005.10:41158704:T:C Identity +LRG_292t1:c.2426A>C LRG_292p1:p.Glu809Ala NC_000017.11:43093104:T:G ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001386500.1:c.1903C>T NP_001373429.1:p.His635Tyr NC_000001.11:11238500:G:A p.(His635Tyr) NC_000001.11:11238500:G:A p.(His635Tyr) NC_000001.11:11238500:G:A Identity +NM_001258214.1:c.1919T>C NP_001245143.1:p.Ile640Thr NC_000001.11:67386641:T:C p.(Ile640Thr) NC_000001.11:67386641:T:C p.(Ile640Thr) NC_000001.11:67386641:T:C Identity +NM_001025107.3:c.2582T>C NP_001020278.1:p.Val861Ala NC_000001.11:154585019:A:G p.(Val861Ala) NC_000001.11:154585019:A:G p.(Val861Ala) NC_000001.11:154585019:A:G Identity +NM_000179.3:c.3745T>G NP_000170.1:p.Tyr1249Asp NC_000002.12:47806301:T:G p.(Tyr1249Asp) NC_000002.12:47806301:T:G p.(Tyr1249Asp) NC_000002.12:47806301:T:G Identity +NM_024408.4:c.4252C>T NP_077719.2:p.Pro1418Ser NC_000001.11:119925563:G:A p.(Pro1418Ser) NC_000001.11:119925563:G:A p.(Pro1418Ser) NC_000001.11:119925563:G:A Identity +NM_000252.3:c.1423T>C NP_000243.1:p.Phe475Leu NC_000023.11:150660439:T:C p.(Phe475Leu) NC_000023.11:150660439:T:C p.(Phe475Leu) NC_000023.11:150660439:T:C Identity +NM_003482.4:c.4756C>G NP_003473.3:p.Arg1586Gly NC_000012.12:49044950:G:C p.(Arg1586Gly) NC_000012.12:49044950:G:C p.(Arg1586Gly) NC_000012.12:49044950:G:C Identity +NM_001306079.2:c.6310C>T NP_001293008.1:p.Leu2104Phe NC_000002.12:27243215:C:T p.(Leu2104Phe) NC_000002.12:27243215:C:T p.(Leu2104Phe) NC_000002.12:27243215:C:T Identity +NM_006267.5:c.1661T>C NP_006258.3:p.Leu554Pro NC_000002.12:108751899:T:C p.(Leu554Pro) NC_000002.12:108751899:T:C p.(Leu554Pro) NC_000002.12:108751899:T:C Identity +NM_014989.7:c.686C>G NP_055804.2:p.Ser229Cys NC_000006.12:72179788:C:G p.(Ser229Cys) NC_000006.12:72179788:C:G p.(Ser229Cys) NC_000006.12:72179788:C:G Identity +NM_004813.4:c.584G>A NP_004804.2:p.Arg195Gln NC_000011.10:45914425:C:T p.(Arg195Gln) NC_000011.10:45914425:C:T p.(Arg195Gln) NC_000011.10:45914425:C:T Identity +NM_001068.3:c.3856T>A NP_001059.2:p.Leu1286Met NC_000003.12:25609627:A:T p.(Leu1286Met) NC_000003.12:25609627:A:T p.(Leu1286Met) NC_000003.12:25609627:A:T Identity +NM_001363907.1:c.634T>G NP_001350836.1:p.Phe212Val NC_000016.10:85918418:T:G p.(Phe212Val) NC_000016.10:85918418:T:G p.(Phe212Val) NC_000016.10:85918418:T:G Identity +NM_001127660.2:c.142G>A NP_001121132.1:p.Ala48Thr NC_000001.11:11989309:G:A p.(Ala48Thr) NC_000001.11:11989309:G:A p.(Ala48Thr) NC_000001.11:11989309:G:A Identity +NM_001999.4:c.3046G>T NP_001990.2:p.Val1016Phe NC_000005.10:128345527:C:A p.(Val1016Phe) NC_000005.10:128345527:C:A p.(Val1016Phe) NC_000005.10:128345527:C:A Identity +NM_000350.3:c.2974A>G NP_000341.2:p.Arg992Gly NC_000001.11:94044688:T:C p.(Arg992Gly) NC_000001.11:94044688:T:C p.(Arg992Gly) NC_000001.11:94044688:T:C Identity +NM_001286827.3:c.1050C>G NP_001273756.1:p.Asp350Glu NC_000004.12:46256218:G:C p.(Asp350Glu) NC_000004.12:46256218:G:C p.(Asp350Glu) NC_000004.12:46256218:G:C Identity +NM_001098398.2:c.2587G>A NP_001091868.1:p.Asp863Asn NC_000001.11:160294773:C:T p.(Asp863Asn) NC_000001.11:160294773:C:T p.(Asp863Asn) NC_000001.11:160294773:C:T Identity +NM_001012321.1:c.467A>C NP_001012321.1:p.Tyr156Ser NC_000003.12:39410967:A:C ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found ERR:AlignmentMapper(tx_ac=NM_001012321.1, alt_ac=NM_001012321.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012321.1, alt_ac=NM_001012321.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012321.1 not found +NM_001407304.1:c.2479G>A NP_001394233.1:p.Asp827Asn NC_000016.10:23603655:C:T p.(Asp827Asn) NC_000016.10:23603655:C:T p.(Asp827Asn) NC_000016.10:23603655:C:T Identity +NM_000257.4:c.2020A>T NP_000248.2:p.Ile674Phe NC_000014.9:23426800:T:A p.(Ile674Phe) NC_000014.9:23426800:T:A p.(Ile674Phe) NC_000014.9:23426800:T:A Identity +NM_001271427.2:c.16G>T NP_001258356.1:p.Ala6Ser NC_000001.11:19251493:C:A p.(Ala6Ser) NC_000001.11:19251493:C:A p.(Ala6Ser) NC_000001.11:19251493:C:A Identity +NM_001303496.3:c.4234G>A NP_001290425.1:p.Glu1412Lys NC_000007.14:93131737:C:T p.(Glu1412Lys) NC_000007.14:93131737:C:T p.(Glu1412Lys) NC_000007.14:93131737:C:T Identity +NM_001942.4:c.1883A>G NP_001933.2:p.Asp628Gly NC_000018.10:31343986:A:G p.(Asp628Gly) NC_000018.10:31343986:A:G p.(Asp628Gly) NC_000018.10:31343986:A:G Identity +NM_001112808.3:c.2101G>A NP_001106279.3:p.Gly701Arg NC_000001.11:74436104:G:A p.(Gly701Arg) NC_000001.11:74436104:G:A p.(Gly701Arg) NC_000001.11:74436104:G:A Identity +NM_001256007.3:c.160A>G NP_001242936.1:p.Ile54Val NC_000007.14:108515331:T:C p.(Ile54Val) NC_000007.14:108515331:T:C p.(Ile54Val) NC_000007.14:108515331:T:C Identity +NM_032043.3:c.2788T>A NP_114432.2:p.Ser930Thr NC_000017.11:61685952:A:T p.(Ser930Thr) NC_000017.11:61685952:A:T p.(Ser930Thr) NC_000017.11:61685952:A:T Identity +NM_001410858.1:c.3130C>A NP_001397787.1:p.Leu1044Ile NC_000018.10:45917787:G:T p.(Leu1044Ile) NC_000018.10:45917787:G:T p.(Leu1044Ile) NC_000018.10:45917787:G:T Identity +NM_033629.6:c.14C>A NP_338599.1:p.Ala5Asp NC_000003.12:48466668:C:A p.(Ala5Asp) NC_000003.12:48466668:C:A p.(Ala5Asp) NC_000003.12:48466668:C:A Identity +NM_000495.5:c.4387C>T NP_000486.1:p.Leu1463Phe NC_000023.11:108687570:C:T p.(Leu1463Phe) NC_000023.11:108687570:C:T p.(Leu1463Phe) NC_000023.11:108687570:C:T Identity +NM_001099952.4:c.2987G>A NP_001093422.2:p.Cys996Tyr NC_000003.12:4680598:G:A p.(Cys996Tyr) NC_000003.12:4680598:G:A p.(Cys996Tyr) NC_000003.12:4680598:G:A Identity +NM_198586.3:c.943T>A NP_940988.2:p.Tyr315Asn NC_000006.12:18121663:A:T p.(Tyr315Asn) NC_000006.12:18121663:A:T p.(Tyr315Asn) NC_000006.12:18121663:A:T Identity +NM_001324337.2:c.1300A>G NP_001311266.1:p.Asn434Asp NC_000010.11:111009262:A:G p.(Asn434Asp) NC_000010.11:111009262:A:G p.(Asn434Asp) NC_000010.11:111009262:A:G Identity +NM_030665.4:c.446C>T NP_109590.3:p.Thr149Ile NC_000017.11:17793393:C:T p.(Thr149Ile) NC_000017.11:17793393:C:T p.(Thr149Ile) NC_000017.11:17793393:C:T Identity +NM_006269.2:c.2342C>T NP_006260.1:p.Ser781Leu NC_000008.11:54626223:C:T p.(Ser781Leu) NC_000008.11:54626223:C:T p.(Ser781Leu) NC_000008.11:54626223:C:T Identity +NM_000033.4:c.706C>G NP_000024.2:p.Arg236Gly NC_000023.11:153725971:C:G p.(Arg236Gly) NC_000023.11:153725971:C:G p.(Arg236Gly) NC_000023.11:153725971:C:G Identity +NM_006516.4:c.77T>C NP_006507.2:p.Phe26Ser NC_000001.11:42943262:A:G p.(Phe26Ser) NC_000001.11:42943262:A:G p.(Phe26Ser) NC_000001.11:42943262:A:G Identity +NM_001164507.2:c.11339C>A NP_001157979.2:p.Ala3780Asp NC_000002.12:151614537:G:T p.(Ala3780Asp) NC_000002.12:151614537:G:T p.(Ala3780Asp) NC_000002.12:151614537:G:T Identity +NM_000833.5:c.1609G>T NP_000824.1:p.Val537Phe NC_000016.10:9840688:C:A p.(Val537Phe) NC_000016.10:9840688:C:A p.(Val537Phe) NC_000016.10:9840688:C:A Identity +NM_006269.2:c.5906A>T NP_006260.1:p.Glu1969Val NC_000008.11:54629787:A:T p.(Glu1969Val) NC_000008.11:54629787:A:T p.(Glu1969Val) NC_000008.11:54629787:A:T Identity +NM_001321378.2:c.4771G>T NP_001308307.1:p.Asp1591Tyr NC_000011.10:17091440:C:A p.(Asp1591Tyr) NC_000011.10:17091440:C:A p.(Asp1591Tyr) NC_000011.10:17091440:C:A Identity +NM_005188.4:c.2116A>T NP_005179.2:p.Arg706Trp NC_000011.10:119296996:A:T p.(Arg706Trp) NC_000011.10:119296996:A:T p.(Arg706Trp) NC_000011.10:119296996:A:T Identity +NM_001375654.1:c.262G>C NP_001362583.1:p.Gly88Arg NC_000008.11:54621227:G:C p.(Gly88Arg) NC_000008.11:54621227:G:C p.(Gly88Arg) NC_000008.11:54621227:G:C Identity +NM_001244008.2:c.1858G>C NP_001230937.1:p.Glu620Gln NC_000002.12:240763256:C:G p.(Glu620Gln) NC_000002.12:240763256:C:G p.(Glu620Gln) NC_000002.12:240763256:C:G Identity +NM_001130438.3:c.4414_4415delinsAC NP_001123910.1:p.Asp1472Thr NC_000009.12:128608198:GA:AC p.(Asp1472Thr) NC_000009.12:128608198:GA:AC p.(Asp1472Thr) NC_000009.12:128608198:GA:AC Identity +NM_004370.6:c.9109C>T NP_004361.3:p.Pro3037Ser NC_000006.12:75087648:G:A p.(Pro3037Ser) NC_000006.12:75087648:G:A p.(Pro3037Ser) NC_000006.12:75087648:G:A Identity +NM_001145252.3:c.349C>A NP_001138724.1:p.Pro117Thr NC_000023.11:47628155:G:T p.(Pro117Thr) NC_000023.11:47628155:G:T p.(Pro117Thr) NC_000023.11:47628155:G:T Identity +NM_000075.4:c.781G>T NP_000066.1:p.Val261Leu NC_000012.12:57749219:C:A p.(Val261Leu) NC_000012.12:57749219:C:A p.(Val261Leu) NC_000012.12:57749219:C:A Identity +NM_001170629.2:c.6812T>C NP_001164100.1:p.Met2271Thr NC_000014.9:21391905:A:G p.(Met2271Thr) NC_000014.9:21391905:A:G p.(Met2271Thr) NC_000014.9:21391905:A:G Identity +NM_001083926.2:c.521T>C NP_001077395.1:p.Leu174Ser NC_000011.10:62389161:T:C p.(Leu174Ser) NC_000011.10:62389161:T:C p.(Leu174Ser) NC_000011.10:62389161:T:C Identity +NM_001347827.2:c.1061T>A NP_001334756.1:p.Leu354Gln NC_000004.12:54267680:T:A p.(Leu354Gln) NC_000004.12:54267680:T:A p.(Leu354Gln) NC_000004.12:54267680:T:A Identity +NM_001039590.3:c.3797A>G NP_001034679.2:p.Lys1266Arg NC_000023.11:41188103:A:G p.(Lys1266Arg) NC_000023.11:41188103:A:G p.(Lys1266Arg) NC_000023.11:41188103:A:G Identity +NM_000043.6:c.746T>C NP_000034.1:p.Val249Ala NC_000010.11:89014187:T:C p.(Val249Ala) NC_000010.11:89014187:T:C p.(Val249Ala) NC_000010.11:89014187:T:C Identity +NM_000435.3:c.313T>C NP_000426.2:p.Ser105Pro NC_000019.10:15192403:A:G p.(Ser105Pro) NC_000019.10:15192403:A:G p.(Ser105Pro) NC_000019.10:15192403:A:G Identity +NM_001354689.3:c.1195G>T NP_001341618.1:p.Val399Phe NC_000003.12:12591765:C:A p.(Val399Phe) NC_000003.12:12591765:C:A p.(Val399Phe) NC_000003.12:12591765:C:A Identity +NM_006767.4:c.2123T>A NP_006758.2:p.Ile708Asn NC_000022.11:20996015:T:A p.(Ile708Asn) NC_000022.11:20996015:T:A p.(Ile708Asn) NC_000022.11:20996015:T:A Identity +NM_001017423.2:c.1558_1559delinsTT NP_001017423.1:p.Glu520Leu NC_000010.11:95616516:TC:AA p.(Glu520Leu) NC_000010.11:95616516:TC:AA p.(Glu520Leu) NC_000010.11:95616516:TC:AA Identity +NM_001168249.1:c.151C>T NP_001161721.1:p.Pro51Ser NC_000001.11:103082927:G:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_000890.5:c.592G>A NP_000881.3:p.Glu198Lys NC_000011.10:128911864:G:A p.(Glu198Lys) NC_000011.10:128911864:G:A p.(Glu198Lys) NC_000011.10:128911864:G:A Identity +NM_001164097.2:c.3562A>G NP_001157569.1:p.Thr1188Ala NC_000005.10:83539525:A:G p.(Thr1188Ala) NC_000005.10:83539525:A:G p.(Thr1188Ala) NC_000005.10:83539525:A:G Identity +NM_001201459.2:c.52C>T NP_001188388.1:p.Leu18Phe NC_000002.12:27379027:G:A p.(Leu18Phe) NC_000002.12:27379027:G:A p.(Leu18Phe) NC_000002.12:27379027:G:A Identity +NM_002224.4:c.7570C>T NP_002215.2:p.Arg2524Cys NC_000006.12:33692838:C:T p.(Arg2524Cys) NC_000006.12:33692838:C:T p.(Arg2524Cys) NC_000006.12:33692838:C:T Identity +NM_001111125.3:c.4151G>T NP_001104595.1:p.Gly1384Val NC_000023.11:53234534:C:A p.(Gly1384Val) NC_000023.11:53234534:C:A p.(Gly1384Val) NC_000023.11:53234534:C:A Identity +NM_000212.3:c.1959C>A NP_000203.2:p.Asp653Glu NC_000017.11:47300522:C:A p.(Asp653Glu) NC_000017.11:47300522:C:A p.(Asp653Glu) NC_000017.11:47300522:C:A Identity +NM_030665.4:c.1142C>G NP_109590.3:p.Ala381Gly NC_000017.11:17794089:C:G p.(Ala381Gly) NC_000017.11:17794089:C:G p.(Ala381Gly) NC_000017.11:17794089:C:G Identity +NM_000059.4:c.8534G>A NP_000050.3:p.Arg2845Lys NC_000013.11:32371001:G:A p.(Arg2845Lys) NC_000013.11:32371001:G:A p.(Arg2845Lys) NC_000013.11:32371001:G:A Identity +NM_000402.4:c.1305G>A NP_000393.4:p.Met435Ile NC_000023.11:154532638:C:T p.(Met435Ile) NC_000023.11:154532638:C:T p.(Met435Ile) NC_000023.11:154532638:C:T Identity +NM_000402.4:c.676A>T NP_000393.4:p.Ile226Phe NC_000023.11:154534395:T:A p.(Ile226Phe) NC_000023.11:154534395:T:A p.(Ile226Phe) NC_000023.11:154534395:T:A Identity +NM_000402.4:c.682C>A NP_000393.4:p.Arg228Ser NC_000023.11:154534389:G:T p.(Arg228Ser) NC_000023.11:154534389:G:T p.(Arg228Ser) NC_000023.11:154534389:G:T Identity +NM_000402.4:c.688G>A NP_000393.4:p.Asp230Asn NC_000023.11:154534383:C:T p.(Asp230Asn) NC_000023.11:154534383:C:T p.(Asp230Asn) NC_000023.11:154534383:C:T Identity +NM_018026.4:c.1069G>C NP_060496.2:p.Glu357Gln NC_000011.10:66220660:G:C p.(Glu357Gln) NC_000011.10:66220660:G:C p.(Glu357Gln) NC_000011.10:66220660:G:C Identity +NM_001165963.4:c.1234T>G NP_001159435.1:p.Phe412Val NC_000002.12:166046912:A:C p.(Phe412Val) NC_000002.12:166046912:A:C p.(Phe412Val) NC_000002.12:166046912:A:C Identity +NM_001410772.1:c.1696C>T NP_001397701.1:p.Pro566Ser NC_000003.12:52403277:G:A p.(Pro566Ser) NC_000003.12:52403277:G:A p.(Pro566Ser) NC_000003.12:52403277:G:A Identity +NM_015295.3:c.216T>G NP_056110.2:p.Phe72Leu NC_000018.10:2666185:T:G p.(Phe72Leu) NC_000018.10:2666185:T:G p.(Phe72Leu) NC_000018.10:2666185:T:G Identity +NM_001257374.3:c.1418C>T NP_001244303.1:p.Thr473Ile NC_000001.11:156138542:C:T p.(Thr473Ile) NC_000001.11:156138542:C:T p.(Thr473Ile) NC_000001.11:156138542:C:T Identity +NM_000193.4:c.727G>A NP_000184.1:p.Asp243Asn NC_000007.14:155803561:C:T p.(Asp243Asn) NC_000007.14:155803561:C:T p.(Asp243Asn) NC_000007.14:155803561:C:T Identity +NM_006218.4:c.2221C>T NP_006209.2:p.Arg741Ter NC_000003.12:179224113:C:T p.(Arg741Ter) NC_000003.12:179224113:C:T p.(Arg741Ter) NC_000003.12:179224113:C:T Identity +NM_001025107.3:c.434G>T NP_001020278.1:p.Gly145Val NC_000001.11:154601322:C:A p.(Gly145Val) NC_000001.11:154601322:C:A p.(Gly145Val) NC_000001.11:154601322:C:A Identity +NM_001285829.2:c.155A>C NP_001272758.1:p.Lys52Thr NC_000019.10:33301902:T:G p.(Lys52Thr) NC_000019.10:33301902:T:G p.(Lys52Thr) NC_000019.10:33301902:T:G Identity +NM_000051.4:c.3596A>C NP_000042.3:p.Glu1199Ala NC_000011.10:108282728:A:C p.(Glu1199Ala) NC_000011.10:108282728:A:C p.(Glu1199Ala) NC_000011.10:108282728:A:C Identity +NM_018706.7:c.46G>A NP_061176.4:p.Ala16Thr NC_000010.11:12069078:G:A p.(Ala16Thr) NC_000010.11:12069078:G:A p.(Ala16Thr) NC_000010.11:12069078:G:A Identity +NM_000168.6:c.2985C>A NP_000159.3:p.His995Gln NC_000007.14:41966087:G:T p.(His995Gln) NC_000007.14:41966087:G:T p.(His995Gln) NC_000007.14:41966087:G:T Identity +NM_001378414.1:c.2869T>C NP_001365343.1:p.Cys957Arg NC_000002.12:239068488:A:G p.(Cys957Arg) NC_000002.12:239068488:A:G p.(Cys957Arg) NC_000002.12:239068488:A:G Identity +NM_001040633.2:c.1442T>A NP_001035723.1:p.Val481Glu NC_000007.14:151564087:A:T p.(Val481Glu) NC_000007.14:151564087:A:T p.(Val481Glu) NC_000007.14:151564087:A:T Identity +NM_004525.3:c.2006del NP_004516.2:p.Gly669fs NC_000002.12:169273036:CCCCC:CCCC p.(Gly669AlafsTer96) NC_000002.12:169273036:CCCCC:CCCC p.(Gly669AlafsTer96) NC_000002.12:169273036:C: Analogous +NM_000090.4:c.4205C>T NP_000081.2:p.Ala1402Val NC_000002.12:189010840:C:T p.(Ala1402Val) NC_000002.12:189010840:C:T p.(Ala1402Val) NC_000002.12:189010840:C:T Identity +NM_207361.6:c.4568G>A NP_997244.4:p.Arg1523His NC_000013.11:38691911:G:A p.(Arg1523His) NC_000013.11:38691911:G:A p.(Arg1523His) NC_000013.11:38691911:G:A Identity +NM_005413.4:c.715C>G NP_005404.1:p.Leu239Val NC_000002.12:44942818:C:G p.(Leu239Val) NC_000002.12:44942818:C:G p.(Leu239Val) NC_000002.12:44942818:C:G Identity +NM_001032280.3:c.224G>A NP_001027451.1:p.Ser75Asn NC_000006.12:10410138:C:T p.(Ser75Asn) NC_000006.12:10410138:C:T p.(Ser75Asn) NC_000006.12:10410138:C:T Identity +NM_001079866.2:c.1186del NP_001073335.1:p.Val396fs NC_000002.12:218663310:GG:G p.(Val396CysfsTer13) NC_000002.12:218663310:GG:G p.(Val396CysfsTer13) NC_000002.12:218663311:G: Analogous +NM_000402.4:c.373_375del NP_000393.4:p.Lys125del NC_000023.11:154535367:CTTCT:CT p.(Lys125del) NC_000023.11:154535367:CTTCT:CT p.(Lys125del) NC_000023.11:154535367:CTT: Identity +NM_000402.4:c.1228A>G NP_000393.4:p.Ile410Val NC_000023.11:154532715:T:C p.(Ile410Val) NC_000023.11:154532715:T:C p.(Ile410Val) NC_000023.11:154532715:T:C Identity +NM_006231.4:c.4754T>C NP_006222.2:p.Ile1585Thr NC_000012.12:132642703:A:G p.(Ile1585Thr) NC_000012.12:132642703:A:G p.(Ile1585Thr) NC_000012.12:132642703:A:G Identity +NM_001160036.2:c.212A>C NP_001153508.1:p.His71Pro NC_000008.11:23004579:A:C p.(His71Pro) NC_000008.11:23004579:A:C p.(His71Pro) NC_000008.11:23004579:A:C Identity +NM_001193307.2:c.824A>G NP_001180236.1:p.His275Arg NC_000007.14:93105273:T:C p.(His275Arg) NC_000007.14:93105273:T:C p.(His275Arg) NC_000007.14:93105273:T:C Identity +NM_000426.4:c.8430_8431insAG NP_000417.3:p.Ala2811fs NC_000006.12:129503163::AG p.(Ala2811ArgfsTer9) NC_000006.12:129503162:T:AG p.(Ala2811ArgfsTer9) NC_000006.12:129503163:TG:AG Analogous +NM_000288.4:c.622A>T NP_000279.1:p.Lys208Ter NC_000006.12:136866721:A:T p.(Lys208Ter) NC_000006.12:136866721:A:T p.(Lys208Ter) NC_000006.12:136866721:A:T Identity +NM_001308258.2:c.360del NP_001295187.1:p.Lys120fs NC_000003.12:149141155:AAAA:AAA p.(Lys120AsnfsTer56) NC_000003.12:149141155:AAAA:AAA p.(Lys120AsnfsTer56) NC_000003.12:149141158:A: Analogous +NM_001206836.2:c.430G>C NP_001193765.1:p.Glu144Gln NC_000015.10:65877954:G:C p.(Glu144Gln) NC_000015.10:65877954:G:C p.(Glu144Gln) NC_000015.10:65877954:G:C Identity +NM_000068.4:c.1004G>A NP_000059.3:p.Trp335Ter NC_000019.10:13335883:C:T p.(Trp335Ter) NC_000019.10:13335883:C:T p.(Trp335Ter) NC_000019.10:13335883:C:T Identity +NM_001258392.3:c.328A>G NP_001245321.1:p.Arg110Gly NC_000011.10:72434146:T:C p.(Arg110Gly) NC_000011.10:72434146:T:C p.(Arg110Gly) NC_000011.10:72434146:T:C Identity +NM_001350859.2:c.163C>T NP_001337788.1:p.Arg55Ter NC_000003.12:134647470:G:A p.(Arg55Ter) NC_000003.12:134647470:G:A p.(Arg55Ter) NC_000003.12:134647470:G:A Identity +NM_000360.4:c.811C>T NP_000351.2:p.Gln271Ter NC_000011.10:2166916:G:A p.(Gln271Ter) NC_000011.10:2166916:G:A p.(Gln271Ter) NC_000011.10:2166916:G:A Identity +NM_001297764.2:c.1402del NP_001284693.1:p.Arg468fs NC_000011.10:17501071:G: p.(Arg468GlyfsTer11) NC_000011.10:17501071:G: p.(Arg468GlyfsTer11) NC_000011.10:17501071:G: Analogous +NM_001365276.2:c.1834G>A NP_001352205.1:p.Val612Met NC_000006.12:32096018:C:T p.(Val612Met) NC_000006.12:32096018:C:T p.(Val612Met) NC_000006.12:32096018:C:T Identity +NM_000050.4:c.493A>T NP_000041.2:p.Lys165Ter NC_000009.12:130466796:A:T p.(Lys165Ter) NC_000009.12:130466796:A:T p.(Lys165Ter) NC_000009.12:130466796:A:T Identity +NM_000492.4:c.1472_1482del NP_000483.3:p.Cys491fs NC_000007.14:117559541:TGTTCTCAGTTT:T p.(Cys491PhefsTer9) NC_000007.14:117559541:TGTTCTCAGTTT:T p.(Cys491PhefsTer9) NC_000007.14:117559542:GTTCTCAGTTT: Analogous +NM_001382394.1:c.521A>G NP_001369323.1:p.Glu174Gly NC_000002.12:39054791:T:C p.(Glu174Gly) NC_000002.12:39054791:T:C p.(Glu174Gly) NC_000002.12:39054791:T:C Identity +NM_001291902.2:c.827A>G NP_001278831.1:p.Tyr276Cys NC_000011.10:68413754:A:G p.(Tyr276Cys) NC_000011.10:68413754:A:G p.(Tyr276Cys) NC_000011.10:68413754:A:G Identity +NM_178012.5:c.287G>A NP_821080.1:p.Gly96Glu NC_000006.12:3225801:C:T p.(Gly96Glu) NC_000006.12:3225801:C:T p.(Gly96Glu) NC_000006.12:3225801:C:T Identity +NM_001280787.1:c.400C>A NP_001267716.1:p.Pro134Thr NC_000009.12:133352469:G:T p.(Pro134Thr) NC_000009.12:133352469:G:T p.(Pro134Thr) NC_000009.12:133352469:G:T Identity +NM_000261.2:c.1179C>G NP_000252.1:p.Ser393Arg NC_000001.11:171636260:G:C p.(Ser393Arg) NC_000001.11:171636260:G:C p.(Ser393Arg) NC_000001.11:171636260:G:C Identity +NM_000402.4:c.1196T>C NP_000393.4:p.Val399Ala NC_000023.11:154532747:A:G p.(Val399Ala) NC_000023.11:154532747:A:G p.(Val399Ala) NC_000023.11:154532747:A:G Identity +NM_001265612.2:c.326C>A NP_001252541.1:p.Pro109His NC_000016.10:58587396:G:T p.(Pro109His) NC_000016.10:58587396:G:T p.(Pro109His) NC_000016.10:58587396:G:T Identity +NM_032790.4:c.614A>T NP_116179.2:p.Gln205Leu NC_000012.12:121641350:A:T p.(Gln205Leu) NW_018654719.1:47121:A:T p.(Gln205Leu) NC_000012.12:47121:T:T Identity +NM_133259.4:c.3957del NP_573566.2:p.Ala1320fs NC_000002.12:43894572:TT:T p.(Ala1320HisfsTer6) NC_000002.12:43894572:TT:T p.(Ala1320HisfsTer6) NC_000002.12:43894572:T: Analogous +NM_000352.6:c.3921del NP_000343.2:p.Gln1307fs NC_000011.10:17397259:C: p.(Gln1307HisfsTer5) NC_000011.10:17397259:C: p.(Gln1307HisfsTer5) NC_000011.10:17397259:C: Analogous +NM_001165963.4:c.2977A>G NP_001159435.1:p.Ser993Gly NC_000002.12:166036499:T:C p.(Ser993Gly) NC_000002.12:166036499:T:C p.(Ser993Gly) NC_000002.12:166036499:T:C Identity +NM_001190274.2:c.733G>A NP_001177203.1:p.Val245Ile NC_000002.12:47834855:C:T p.(Val245Ile) NC_000002.12:47834855:C:T p.(Val245Ile) NC_000002.12:47834855:C:T Identity +NM_001018837.2:c.178C>T NP_001018238.1:p.Pro60Ser NC_000001.11:154273778:C:T p.(Pro60Ser) NC_000001.11:154273778:C:T p.(Pro60Ser) NC_000001.11:154273778:C:T Identity +NM_003482.4:c.11869C>G NP_003473.3:p.Gln3957Glu NC_000012.12:49032835:G:C p.(Gln3957Glu) NC_000012.12:49032835:G:C p.(Gln3957Glu) NC_000012.12:49032835:G:C Identity +NM_006160.4:c.870C>G NP_006151.3:p.Tyr290Ter NC_000017.11:39605729:G:C p.(Tyr290Ter) NC_000017.11:39605729:G:C p.(Tyr290Ter) NC_000017.11:39605729:G:C Identity +NM_173477.5:c.203C>T NP_775748.2:p.Pro68Leu NC_000017.11:74920632:G:A p.(Pro68Leu) NC_000017.11:74920632:G:A p.(Pro68Leu) NC_000017.11:74920632:G:A Identity +NM_001080414.4:c.5389C>A NP_001073883.2:p.Arg1797Ser NC_000014.9:91273322:G:T p.(Arg1797Ser) NC_000014.9:91273322:G:T p.(Arg1797Ser) NC_000014.9:91273322:G:T Identity +NM_001308122.2:c.1133T>C NP_001295051.1:p.Ile378Thr NC_000005.10:132390697:T:C p.(Ile378Thr) NC_000005.10:132390697:T:C p.(Ile378Thr) NC_000005.10:132390697:T:C Identity +NM_001372.4:c.3767A>G NP_001363.2:p.Gln1256Arg NC_000017.11:11689588:A:G p.(Gln1256Arg) NC_000017.11:11689588:A:G p.(Gln1256Arg) NC_000017.11:11689588:A:G Identity +NM_000170.3:c.447del NP_000161.2:p.Asn150fs NC_000009.12:6620206:CC:C p.(Asn150ThrfsTer81) NC_000009.12:6620206:CC:C p.(Asn150ThrfsTer81) NC_000009.12:6620206:C: Analogous +NM_001384474.1:c.1217T>A NP_001371403.1:p.Leu406Ter NC_000018.10:46594383:A:T p.(Leu406Ter) NC_000018.10:46594383:A:T p.(Leu406Ter) NC_000018.10:46594383:A:T Identity +NM_000199.5:c.396C>A NP_000190.1:p.Tyr132Ter NC_000017.11:80214724:G:T p.(Tyr132Ter) NC_000017.11:80214724:G:T p.(Tyr132Ter) NC_000017.11:80214724:G:T Identity +NM_001321099.2:c.1477T>A NP_001308028.1:p.Leu493Ile NC_000002.12:196847153:A:T p.(Leu493Ile) NC_000002.12:196847153:A:T p.(Leu493Ile) NC_000002.12:196847153:A:T Identity +NM_001378328.1:c.6107G>A NP_001365257.1:p.Cys2036Tyr NC_000022.11:46391673:C:T p.(Cys2036Tyr) NC_000022.11:46391673:C:T p.(Cys2036Tyr) NC_000022.11:46391673:C:T Identity +NM_001256324.2:c.5518A>C NP_001243253.1:p.Asn1840His NC_000017.11:50618798:A:C p.(Asn1840His) NC_000017.11:50618798:A:C p.(Asn1840His) NC_000017.11:50618798:A:C Identity +NM_001077186.2:c.5674C>G NP_001070654.1:p.Gln1892Glu NC_000019.10:50307142:C:G p.(Gln1892Glu) NC_000019.10:50307142:C:G p.(Gln1892Glu) NC_000019.10:50307142:C:G Identity +NM_001195573.1:c.3395C>T NP_001182502.1:p.Ala1132Val NC_000014.9:95104000:G:A p.(Ala1132Val) NC_000014.9:95104000:G:A p.(Ala1132Val) NC_000014.9:95104000:G:A Identity +NM_001271427.2:c.1187A>G NP_001258356.1:p.Gln396Arg NC_000001.11:19238038:T:C p.(Gln396Arg) NC_000001.11:19238038:T:C p.(Gln396Arg) NC_000001.11:19238038:T:C Identity +NM_001375644.1:c.636delinsAGG NP_001362573.1:p.Thr213fs NC_000004.12:145646058:T:AGG p.(Thr213GlyfsTer6) NC_000004.12:145646058:T:AGG p.(Thr213GlyfsTer6) NC_000004.12:145646058:T:AGG Analogous +NM_001256850.1:c.50704C>A NP_001243779.1:p.Leu16902Ile NC_000002.12:178601369:G:T p.(Leu16902Ile) NC_000002.12:178601369:G:T p.(Leu16902Ile) NC_000002.12:178601369:G:T Identity +NM_022166.4:c.1334T>C NP_071449.1:p.Met445Thr NC_000016.10:17158864:A:G p.(Met445Thr) NC_000016.10:17158864:A:G p.(Met445Thr) NC_000016.10:17158864:A:G Identity +NM_001376.5:c.2408T>A NP_001367.2:p.Leu803His NC_000014.9:101986632:T:A p.(Leu803His) NC_000014.9:101986632:T:A p.(Leu803His) NC_000014.9:101986632:T:A Identity +NM_000551.4:c.222_225dup NP_000542.1:p.Phe76fs NC_000003.12:10142068:CATC:CATCCATC p.(Phe76HisfsTer57) NC_000003.12:10142068:CATC:CATCCATC p.(Phe76HisfsTer57) ERR:SPDI Analogous +NM_000170.3:c.1584C>A NP_000161.2:p.Tyr528Ter NC_000009.12:6588698:G:T p.(Tyr528Ter) NC_000009.12:6588698:G:T p.(Tyr528Ter) NC_000009.12:6588698:G:T Identity +NM_001122633.3:c.3812_3813insAGTATTC NP_001116105.2:p.Gly1272fs NC_000002.12:210660540::AGTATTC p.(Gly1272ValfsTer5) NC_000002.12:210660539:T:AGTATTC p.(Gly1272ValfsTer5) NC_000002.12:210660540:TT:AGTATTC Analogous +NM_000053.4:c.1475del NP_000044.2:p.Leu492fs NC_000013.11:51970559:AA:A p.(Leu492TyrfsTer6) NC_000013.11:51970559:AA:A p.(Leu492TyrfsTer6) NC_000013.11:51970559:A: Analogous +NM_001164507.2:c.19442C>A NP_001157979.2:p.Ser6481Ter NC_000002.12:151554011:G:T p.(Ser6481Ter) NC_000002.12:151554011:G:T p.(Ser6481Ter) NC_000002.12:151554011:G:T Identity +NM_001369.3:c.10289T>A NP_001360.1:p.Leu3430Ter NC_000005.10:13758975:A:T p.(Leu3430Ter) NC_000005.10:13758975:A:T p.(Leu3430Ter) NC_000005.10:13758975:A:T Identity +NM_000277.3:c.467del NP_000268.1:p.Ala156fs NC_000012.12:102866637:G: p.(Ala156GlufsTer39) NC_000012.12:102866637:G: p.(Ala156GlufsTer39) NC_000012.12:102866637:G: Analogous +NM_000360.4:c.328del NP_000351.2:p.Ile110fs NC_000011.10:2168649:TTTT:TTT p.(Ile110SerfsTer4) NC_000011.10:2168649:TTTT:TTT p.(Ile110SerfsTer4) NC_000011.10:2168649:T: Analogous +NM_000396.4:c.151dup NP_000387.1:p.Glu51fs NC_000001.11:150806193:CCC:CCCC p.(Glu51GlyfsTer11) NC_000001.11:150806193:CCC:CCCC p.(Glu51GlyfsTer11) ERR:SPDI Analogous +NM_001098.3:c.498G>T NP_001089.1:p.Trp166Cys NC_000022.11:41511940:G:T p.(Trp166Cys) NC_000022.11:41511940:G:T p.(Trp166Cys) NC_000022.11:41511940:G:T Identity +NM_001199922.2:c.537C>G NP_001186851.1:p.Ile179Met NC_000011.10:124649698:G:C p.(Ile179Met) NC_000011.10:124649698:G:C p.(Ile179Met) NC_000011.10:124649698:G:C Identity +NM_001177984.3:c.2675T>C NP_001171455.1:p.Val892Ala NC_000012.12:51765800:T:C p.(Val892Ala) NC_000012.12:51765800:T:C p.(Val892Ala) NC_000012.12:51765800:T:C Identity +NM_015346.4:c.4262T>A NP_056161.2:p.Leu1421Ter NC_000014.9:67782889:A:T p.(Leu1421Ter) NC_000014.9:67782889:A:T p.(Leu1421Ter) NC_000014.9:67782889:A:T Identity +NM_000260.4:c.2839_2840insGTATAAGAGACAG NP_000251.3:p.Phe947fs NC_000011.10:77181524::GTATAAGAGACAG p.(Phe947CysfsTer23) NC_000011.10:77181523:T:GTATAAGAGACAG p.(Phe947CysfsTer23) NC_000011.10:77181524:TT:GTATAAGAGACAG Analogous +NM_000520.6:c.822_823del NP_000511.2:p.Thr275fs NC_000015.10:72349241:TC: p.(Thr275SerfsTer7) NC_000015.10:72349241:TC: p.(Thr275SerfsTer7) NC_000015.10:72349241:TC: Analogous +NM_001130455.2:c.1801_1802del NP_001123927.1:p.Ala602fs NC_000002.12:71553054:CTC:C p.(Ala602HisfsTer8) NC_000002.12:71553054:CTC:C p.(Ala602HisfsTer8) NC_000002.12:71553055:TC: Analogous +NM_000091.5:c.2192T>A NP_000082.2:p.Leu731Ter NC_000002.12:227279858:T:A p.(Leu731Ter) NC_000002.12:227279858:T:A p.(Leu731Ter) NC_000002.12:227279858:T:A Identity +NM_001135659.3:c.3617T>C NP_001129131.1:p.Val1206Ala NC_000002.12:50236837:A:G p.(Val1206Ala) NC_000002.12:50236837:A:G p.(Val1206Ala) NC_000002.12:50236837:A:G Identity +NM_001130455.2:c.552_553delinsT NP_001123927.1:p.Thr185fs NC_000002.12:71513806:CA:T p.(Thr185SerfsTer43) NC_000002.12:71513806:CAC:CT p.(Thr185ProfsTer43) NC_000002.12:71513806:CA:T Analogous +NM_015346.4:c.1328C>A NP_056161.2:p.Ser443Ter NC_000014.9:67804207:G:T p.(Ser443Ter) NC_000014.9:67804207:G:T p.(Ser443Ter) NC_000014.9:67804207:G:T Identity +NM_001378454.1:c.5620A>T NP_001365383.1:p.Lys1874Ter NC_000002.12:73452146:A:T p.(Lys1874Ter) NC_000002.12:73452146:A:T p.(Lys1874Ter) NC_000002.12:73452146:A:T Identity +NM_000717.5:c.632A>T NP_000708.1:p.Glu211Val NC_000017.11:60158333:A:T p.(Glu211Val) NC_000017.11:60158333:A:T p.(Glu211Val) NC_000017.11:60158333:A:T Identity +NM_004646.4:c.2504_2505del NP_004637.1:p.Arg835fs NC_000019.10:35842379:TCT:T p.(Arg835IlefsTer13) NC_000019.10:35842379:TCT:T p.(Arg835IlefsTer13) NC_000019.10:35842379:TC: Analogous +NM_000071.3:c.1075A>T NP_000062.1:p.Lys359Ter NC_000021.9:43060510:T:A p.(Lys359Ter) NC_000021.9:43060510:T:A p.(Lys359Ter) NC_000021.9:43060510:T:A Identity +NM_000091.5:c.2076_2077del NP_000082.2:p.Glu693fs NC_000002.12:227277502:GTG:G p.(Glu693ThrfsTer15) NC_000002.12:227277502:GTG:G p.(Glu693ThrfsTer15) NC_000002.12:227277503:TG: Analogous +NM_000359.3:c.1038C>A NP_000350.1:p.Tyr346Ter NC_000014.9:24259195:G:T p.(Tyr346Ter) NC_000014.9:24259195:G:T p.(Tyr346Ter) NC_000014.9:24259195:G:T Identity +NM_015243.3:c.1944T>A NP_056058.2:p.Cys648Ter NC_000008.11:99147940:T:A p.(Cys648Ter) NC_000008.11:99147940:T:A p.(Cys648Ter) NC_000008.11:99147940:T:A Identity +NM_000414.4:c.1496_1497del NP_000405.1:p.Leu499fs NC_000005.10:119515038:TT: p.(Leu499GlnfsTer18) NC_000005.10:119515038:TT: p.(Leu499GlnfsTer18) NC_000005.10:119515038:TT: Analogous +NM_005562.3:c.1720delinsTT NP_005553.2:p.Asn574fs NC_000001.11:183230965:A:TT p.(Asn574IlefsTer3) NC_000001.11:183230965:AA:ATT p.(Asn574LeufsTer3) NC_000001.11:183230965:A:TT Analogous +NM_000260.4:c.767del NP_000251.3:p.Tyr256fs NC_000011.10:77157309:A: p.(Tyr256SerfsTer7) NC_000011.10:77157309:A: p.(Tyr256SerfsTer7) NC_000011.10:77157309:A: Analogous +NM_000203.5:c.1644del NP_000194.2:p.Gln550fs NC_000004.12:1003461:CCC:CC p.(Gln550ArgfsTer10) NC_000004.12:1003461:CCC:CC p.(Gln550ArgfsTer10) NC_000004.12:1003463:C: Analogous +NM_001318360.2:c.3346_3347del NP_001305289.1:p.Glu1116fs NC_000009.12:108878633:TC: p.(Glu1116LysfsTer5) NC_000009.12:108878633:TC: p.(Glu1116LysfsTer5) NC_000009.12:108878633:TC: Analogous +NM_000784.4:c.1061del NP_000775.1:p.Asp354fs NC_000002.12:218814063:A: p.(Asp354AlafsTer54) NC_000002.12:218814063:A: p.(Asp354AlafsTer54) NC_000002.12:218814063:A: Analogous +NM_001142763.2:c.3127G>T NP_001136235.1:p.Glu1043Ter NC_000010.11:53959741:C:A p.(Glu1043Ter) NC_000010.11:53959741:C:A p.(Glu1043Ter) NC_000010.11:53959741:C:A Identity +NM_001378454.1:c.8435T>A NP_001365383.1:p.Leu2812Ter NC_000002.12:73490393:T:A p.(Leu2812Ter) NC_000002.12:73490393:T:A p.(Leu2812Ter) NC_000002.12:73490393:T:A Identity +NM_000170.3:c.1873G>T NP_000161.2:p.Gly625Ter NC_000009.12:6565406:C:A p.(Gly625Ter) NC_000009.12:6565406:C:A p.(Gly625Ter) NC_000009.12:6565406:C:A Identity +NM_000920.4:c.329dup NP_000911.2:p.Asn110fs NC_000011.10:66871472:TT:TTT p.(Asn110LysfsTer14) NC_000011.10:66871472:TT:TTT p.(Asn110LysfsTer14) ERR:SPDI Analogous +NM_000028.3:c.2530dup NP_000019.2:p.Ser844Lysfs NC_000001.11:99884433:AA:AAA p.(Ser844LysfsTer8) NC_000001.11:99884433:AA:AAA p.(Ser844LysfsTer8) ERR:SPDI Analogous +NM_005476.7:c.926dup NP_005467.1:p.Ala310fs NC_000009.12:36233975:CC:CCC p.(Ala310SerfsTer29) NC_000009.12:36233975:CC:CCC p.(Ala310SerfsTer29) ERR:SPDI Analogous +NM_000128.4:c.228T>A NP_000119.1:p.Cys76Ter NC_000004.12:186273079:T:A p.(Cys76Ter) NC_000004.12:186273079:T:A p.(Cys76Ter) NC_000004.12:186273079:T:A Identity +NM_001164507.2:c.10169_10170insCT NP_001157979.2:p.Trp3390fs NC_000002.12:151627179::AG p.(Trp3390CysfsTer3) NC_000002.12:151627178:C:AG p.(Trp3390CysfsTer3) NC_000002.12:151627179:CC:AG Analogous +NM_000543.5:c.722del NP_000534.3:p.Pro241fs NC_000011.10:6391785:CC:C p.(Pro241GlnfsTer16) NC_000011.10:6391785:CC:C p.(Pro241GlnfsTer16) NC_000011.10:6391786:C: Analogous +NM_000411.8:c.910C>T NP_000402.3:p.Gln304Ter NC_000021.9:36936534:G:A p.(Gln304Ter) NC_000021.9:36936534:G:A p.(Gln304Ter) NC_000021.9:36936534:G:A Identity +NM_001142763.2:c.2967_2968delinsC NP_001136235.1:p.Ser990fs NC_000010.11:53961807:AA:G p.(Ser990LeufsTer4) NC_000010.11:53961807:AA:G p.(Ser990LeufsTer4) NC_000010.11:53961807:AA:G Analogous +NM_000521.4:c.738T>A NP_000512.2:p.Tyr246Ter NC_000005.10:74705286:T:A p.(Tyr246Ter) NC_000005.10:74705286:T:A p.(Tyr246Ter) NC_000005.10:74705286:T:A Identity +NM_001243766.2:c.106_107del NP_001230695.2:p.Arg36fs NC_000001.11:46197714:CGC:C p.(Arg36GlufsTer31) NC_000001.11:46197714:CGC:C p.(Arg36GlufsTer31) NC_000001.11:46197714:CG: Analogous +NM_000053.4:c.2512_2513del NP_000044.2:p.Lys838fs NC_000013.11:51950333:TTT:T p.(Lys838ValfsTer15) NC_000013.11:51950333:TTT:T p.(Lys838ValfsTer15) NC_000013.11:51950333:TT: Analogous +NM_001363227.2:c.1358_1361del NP_001350156.1:p.Tyr453fs NC_000008.11:43192410:ACCA: p.(Tyr453CysfsTer28) NC_000008.11:43192410:ACCA: p.(Tyr453CysfsTer28) NC_000008.11:43192410:ACCA: Analogous +NM_000092.5:c.556C>T NP_000083.3:p.Gln186Ter NC_000002.12:227114629:G:A p.(Gln186Ter) NC_000002.12:227114629:G:A p.(Gln186Ter) NC_000002.12:227114629:G:A Identity +NM_001369.3:c.4042del NP_001360.1:p.Asp1348fs NC_000005.10:13867784:CC:C p.(Asp1348ThrfsTer4) NC_000005.10:13867784:CC:C p.(Asp1348ThrfsTer4) NC_000005.10:13867784:C: Analogous +NM_000252.3:c.302_303del NP_000243.1:p.Ser101fs NC_000023.11:150614658:GT: p.(Ser101LysfsTer13) NC_000023.11:150614658:GT: p.(Ser101LysfsTer13) NC_000023.11:150614658:GT: Analogous +NM_001369.3:c.3034del NP_001360.1:p.Ala1012fs NC_000005.10:13883043:CCC:CC p.(Ala1012GlnfsTer23) NC_000005.10:13883043:CCC:CC p.(Ala1012GlnfsTer23) NC_000005.10:13883043:C: Analogous +NM_000349.3:c.475A>T NP_000340.2:p.Lys159Ter NC_000008.11:38146137:T:A p.(Lys159Ter) NC_000008.11:38146137:T:A p.(Lys159Ter) NC_000008.11:38146137:T:A Identity +NM_000441.2:c.2184_2187del NP_000432.1:p.Leu729fs NC_000007.14:107710143:TCTATCTA:TCTA p.(Leu729ArgfsTer4) NC_000007.14:107710143:TCTATCTA:TCTA p.(Leu729ArgfsTer4) NC_000007.14:107710147:TCTA: Analogous +NM_015346.4:c.237G>A NP_056161.2:p.Trp79Ter NC_000014.9:67814021:C:T p.(Trp79Ter) NC_000014.9:67814021:C:T p.(Trp79Ter) NC_000014.9:67814021:C:T Identity +NM_000053.4:c.590_591del NP_000044.2:p.Leu197fs NC_000013.11:51974628:GAG:G p.(Leu197GlnfsTer6) NC_000013.11:51974628:GAG:G p.(Leu197GlnfsTer6) NC_000013.11:51974628:GA: Analogous +NM_001306090.2:c.857C>A NP_001293019.1:p.Ser286Ter NC_000004.12:5745258:C:A p.(Ser286Ter) NC_000004.12:5745258:C:A p.(Ser286Ter) NC_000004.12:5745258:C:A Identity +NM_001164507.2:c.3187G>T NP_001157979.2:p.Gly1063Ter NC_000002.12:151679788:C:A p.(Gly1063Ter) NC_000002.12:151679788:C:A p.(Gly1063Ter) NC_000002.12:151679788:C:A Identity +NM_000048.4:c.143del NP_000039.2:p.Gly48fs NC_000007.14:66081929:GGGG:GGG p.(Gly48AlafsTer20) NC_000007.14:66081929:GGGG:GGG p.(Gly48AlafsTer20) NC_000007.14:66081932:G: Analogous +NM_000528.4:c.1795del NP_000519.2:p.Arg599fs NC_000019.10:12655728:TT:T p.(Arg599AspfsTer7) NC_000019.10:12655728:TT:T p.(Arg599AspfsTer7) NC_000019.10:12655728:T: Analogous +NM_001376472.1:c.592del NP_001363401.1:p.Tyr198fs NC_000022.11:50076845:AA:A p.(Tyr198ThrfsTer6) NC_000022.11:50076845:AA:A p.(Tyr198ThrfsTer6) NC_000022.11:50076845:A: Analogous +NM_000289.6:c.465_466del NP_000280.1:p.Leu156fs NC_000012.12:48133351:CC: p.(Leu156GlufsTer10) NC_000012.12:48133351:CC: p.(Leu156GlufsTer10) NC_000012.12:48133351:CC: Analogous +NM_015346.4:c.1356_1359del NP_056161.2:p.Asn453fs NC_000014.9:67804176:GTTTGT:GT p.(Asn453PhefsTer36) NC_000014.9:67804176:GTTTGT:GT p.(Asn453PhefsTer36) NC_000014.9:67804176:GTTT: Analogous +NM_138694.4:c.8926A>T NP_619639.3:p.Lys2976Ter NC_000006.12:51753224:T:A p.(Lys2976Ter) NC_000006.12:51753224:T:A p.(Lys2976Ter) NC_000006.12:51753224:T:A Identity +NM_000282.4:c.101_102del NP_000273.2:p.Leu34fs NC_000013.11:100089220:TG: p.(Leu34GlnfsTer16) NC_000013.11:100089220:TG: p.(Leu34GlnfsTer16) NC_000013.11:100089220:TG: Analogous +NM_001122633.3:c.2913del NP_001116105.2:p.Phe971fs NC_000002.12:210640009:TTTT:TTT p.(Phe971LeufsTer6) NC_000002.12:210640009:TTTT:TTT p.(Phe971LeufsTer6) NC_000002.12:210640012:T: Analogous +NM_000426.4:c.2879C>G NP_000417.3:p.Ser960Ter NC_000006.12:129297706:C:G p.(Ser960Ter) NC_000006.12:129297706:C:G p.(Ser960Ter) NC_000006.12:129297706:C:G Identity +NM_138694.4:c.3140_3141del NP_619639.3:p.Val1047fs NC_000006.12:52035677:AA: p.(Val1047GlufsTer77) NC_000006.12:52035677:AA: p.(Val1047GlufsTer77) NC_000006.12:52035677:AA: Analogous +NM_001164507.2:c.20813del NP_001157979.2:p.Lys6938fs NC_000002.12:151540422:TTTT:TTT p.(Lys6938ArgfsTer2) NC_000002.12:151540422:TTTT:TTT p.(Lys6938ArgfsTer2) NC_000002.12:151540422:T: Analogous +NM_000543.5:c.1118del NP_000534.3:p.Pro373fs NC_000011.10:6393238:CCCC:CCC p.(Pro373HisfsTer12) NC_000011.10:6393238:CCCC:CCC p.(Pro373HisfsTer12) NC_000011.10:6393241:C: Analogous +NM_000199.5:c.341_342insGCTCACC NP_000190.1:p.Gly115fs NC_000017.11:80215046:G:GGTGAGCG p.(Gly115LeufsTer23) NC_000017.11:80215045:A:GGTGAGC p.(Gly115LeufsTer23) NC_000017.11:80215046:AG:GGTGAGC Analogous +NM_000426.4:c.5913_5914del NP_000417.3:p.Gln1972fs NC_000006.12:129427798:TC: p.(Gln1972GlufsTer7) NC_000006.12:129427798:TC: p.(Gln1972GlufsTer7) NC_000006.12:129427798:TC: Analogous +NM_001369.3:c.5458G>T NP_001360.1:p.Glu1820Ter NC_000005.10:13841717:C:A p.(Glu1820Ter) NC_000005.10:13841717:C:A p.(Glu1820Ter) NC_000005.10:13841717:C:A Identity +NM_000495.5:c.4392del NP_000486.1:p.Thr1465fs NC_000023.11:108687574:TT:T p.(Thr1465HisfsTer83) NC_000023.11:108687574:TT:T p.(Thr1465HisfsTer83) NC_000023.11:108687575:T: Analogous +NM_000920.4:c.2591dup NP_000911.2:p.Asn864fs NC_000011.10:66850346:TTTT:TTTTT p.(Asn864LysfsTer2) NC_000011.10:66850346:TTTT:TTTTT p.(Asn864LysfsTer2) ERR:SPDI Analogous +LRG_231t1:c.1543G>T LRG_231p1:p.Gly515Ter NC_000002.12:227088732:C:A ERR:Data provider error: ValueError: Transcript LRG_231t1 not found ERR:Data provider error: ValueError: Transcript LRG_231t1 not found ERR:AlignmentMapper(tx_ac=LRG_231t1, alt_ac=LRG_231t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_231t1, alt_ac=LRG_231t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_231t1 not found +NM_138694.4:c.8089_8090del NP_619639.3:p.Arg2697fs NC_000006.12:51847791:CTC:C p.(Arg2697AlafsTer9) NC_000006.12:51847791:CTC:C p.(Arg2697AlafsTer9) NC_000006.12:51847791:CT: Analogous +NM_001256789.3:c.5594C>G NP_001243718.1:p.Thr1865Ser NC_000023.11:49205691:G:C p.(Thr1865Ser) NC_000023.11:49205691:G:C p.(Thr1865Ser) NC_000023.11:49205691:G:C Identity +NM_001261406.2:c.2948T>G NP_001248335.1:p.Leu983Arg NC_000009.12:13175858:A:C p.(Leu983Arg) NC_000009.12:13175858:A:C p.(Leu983Arg) NC_000009.12:13175858:A:C Identity +NM_001385197.1:c.740C>A NP_001372126.1:p.Pro247Gln NC_000019.10:10365787:G:T p.(Pro247Gln) NC_000019.10:10365787:G:T p.(Pro247Gln) NC_000019.10:10365787:G:T Identity +NM_000203.5:c.1145T>A NP_000194.2:p.Leu382Ter NC_000004.12:1002440:T:A p.(Leu382Ter) NC_000004.12:1002440:T:A p.(Leu382Ter) NC_000004.12:1002440:T:A Identity +NM_001164507.2:c.8750_8751insGCAGCAG NP_001157979.2:p.Asp2917fs NC_000002.12:151639995::CTGCTGC p.(Asp2917GlufsTer12) NC_000002.12:151639994:A:CTGCTGC p.(Asp2917GlufsTer12) NC_000002.12:151639995:AT:CTGCTGC Analogous +NM_000159.4:c.197_198del NP_000150.1:p.Leu66fs NC_000019.10:12891898:CTC:C p.(Leu66HisfsTer121) NC_000019.10:12891898:CTC:C p.(Leu66HisfsTer121) NC_000019.10:12891899:TC: Analogous +NM_005861.4:c.143G>A NP_005852.2:p.Cys48Tyr NC_000016.10:680667:G:A p.(Cys48Tyr) NC_000016.10:680667:G:A p.(Cys48Tyr) NC_000016.10:680667:G:A Identity +NM_001164507.2:c.9662del NP_001157979.2:p.His3221fs NC_000002.12:151630775:T: p.(His3221ProfsTer2) NC_000002.12:151630775:T: p.(His3221ProfsTer2) NC_000002.12:151630775:T: Analogous +NM_001098209.2:c.1836_1837dup NP_001091679.1:p.Val613fs NC_000003.12:41236378:AGAG:AGAGAG p.(Val613GlufsTer2) NC_000003.12:41236378:AGAG:AGAGAG p.(Val613GlufsTer2) ERR:SPDI Analogous +NM_001159508.3:c.550_551del NP_001152980.2:p.Ala184fs NC_000015.10:40411643:GC: p.(Ala184CysfsTer21) NC_000015.10:40411643:GC: p.(Ala184CysfsTer21) NC_000015.10:40411643:GC: Analogous +NM_000124.4:c.2035C>T NP_000115.1:p.Gln679Ter NC_000010.11:49482820:G:A p.(Gln679Ter) NC_000010.11:49482820:G:A p.(Gln679Ter) NC_000010.11:49482820:G:A Identity +NM_000426.4:c.6560del NP_000417.3:p.Gly2187fs NC_000006.12:129453116:GG:G p.(Gly2187GlufsTer11) NC_000006.12:129453116:GG:G p.(Gly2187GlufsTer11) NC_000006.12:129453117:G: Analogous +NM_000709.4:c.253C>T NP_000700.1:p.Gln85Ter NC_000019.10:41410780:C:T p.(Gln85Ter) NC_000019.10:41410780:C:T p.(Gln85Ter) NC_000019.10:41410780:C:T Identity +NM_001031847.3:c.1113_1120del NP_001027017.1:p.Glu372fs NC_000011.10:68784857:GAGGCTCCGAGG:GAGG p.(Glu372AlafsTer31) NC_000011.10:68784857:GAGGCTCCGAGG:GAGG p.(Glu372AlafsTer31) NC_000011.10:68784857:GAGGCTCC: Analogous +NM_000128.4:c.60T>A NP_000119.1:p.Cys20Ter NC_000004.12:186271612:T:A p.(Cys20Ter) NC_000004.12:186271612:T:A p.(Cys20Ter) NC_000004.12:186271612:T:A Identity +NM_138694.4:c.514_515delinsT NP_619639.3:p.Glu172fs NC_000006.12:52073474:TC:A p.(Glu172ValfsTer7) NC_000006.12:52073473:CTC:CA p.(Glu172CysfsTer7) NC_000006.12:52073474:TC:A Analogous +NM_000271.5:c.2871T>A NP_000262.2:p.Cys957Ter NC_000018.10:23539394:A:T p.(Cys957Ter) NC_000018.10:23539394:A:T p.(Cys957Ter) NC_000018.10:23539394:A:T Identity +NM_000521.4:c.295_297delinsT NP_000512.2:p.Arg99fs NC_000005.10:74685554:CGA:T p.(Arg100LeufsTer14) NC_000005.10:74685554:CGACG:CGT p.(Arg99SerfsTer15) NC_000005.10:74685554:CGA:T Analogous +NM_000383.4:c.775A>T NP_000374.1:p.Lys259Ter NC_000021.9:44289778:A:T p.(Lys259Ter) NC_000021.9:44289778:A:T p.(Lys259Ter) NC_000021.9:44289778:A:T Identity +NM_001306090.2:c.650_651del NP_001293019.1:p.His217fs NC_000004.12:5733381:CAC:C p.(His217LeufsTer24) NC_000004.12:5733381:CAC:C p.(His217LeufsTer24) NC_000004.12:5733382:AC: Analogous +NM_003036.4:c.1129T>G NP_003027.1:p.Ser377Ala NC_000001.11:2303317:T:G p.(Ser377Ala) NC_000001.11:2303317:T:G p.(Ser377Ala) NC_000001.11:2303317:T:G Identity +NM_000432.4:c.112C>A NP_000423.2:p.Gln38Lys NC_000012.12:110915771:G:T p.(Gln38Lys) NC_000012.12:110915771:G:T p.(Gln38Lys) NC_000012.12:110915771:G:T Identity +NM_014712.3:c.1947TCC[1] NP_055527.1:p.Pro654del NC_000016.10:30965825:CCTCCTCC:CCTCC p.(Pro654del) NC_000016.10:30965827:T:TCC ERR:Parse ERR:Parse Identity +NM_001271.4:c.5136C>G NP_001262.3:p.His1712Gln NC_000015.10:93020240:C:G p.(His1712Gln) NC_000015.10:93020240:C:G p.(His1712Gln) NC_000015.10:93020240:C:G Identity +NM_005236.3:c.1838C>G NP_005227.1:p.Ser613Ter NC_000016.10:13937791:C:G p.(Ser613Ter) NC_000016.10:13937791:C:G p.(Ser613Ter) NC_000016.10:13937791:C:G Identity +NM_020223.4:c.754G>A NP_064608.2:p.Asp252Asn NC_000007.14:195701:G:A p.(Asp252Asn) NC_000007.14:195701:G:A p.(Asp252Asn) NC_000007.14:195701:G:A Identity +NM_017890.5:c.3172G>T NP_060360.3:p.Gly1058Ter NC_000008.11:99431625:G:T p.(Gly1058Ter) NC_000008.11:99431625:G:T p.(Gly1058Ter) NC_000008.11:99431625:G:T Identity +NM_000170.3:c.754del NP_000161.2:p.Met252fs NC_000009.12:6605237:TTT:TT p.(Met252TrpfsTer46) NC_000009.12:6605237:TTT:TT p.(Met252TrpfsTer46) NC_000009.12:6605237:T: Analogous +NM_015141.4:c.313G>T NP_055956.1:p.Asp105Tyr NC_000003.12:32138673:G:T p.(Asp105Tyr) NC_000003.12:32138673:G:T p.(Asp105Tyr) NC_000003.12:32138673:G:T Identity +NM_000077.5:c.314A>C NP_000068.1:p.Asp105Ala NC_000009.12:21971044:T:G p.(Asp105Ala) NC_000009.12:21971044:T:G p.(Asp105Ala) NC_000009.12:21971044:T:G Identity +NM_001347721.2:c.290A>G NP_001334650.1:p.His97Arg NC_000021.9:37478289:A:G p.(His97Arg) NC_000021.9:37478289:A:G p.(His97Arg) NC_000021.9:37478289:A:G Identity +NM_000245.4:c.317A>G NP_000236.2:p.Asn106Ser NC_000007.14:116699400:A:G p.(Asn106Ser) NC_000007.14:116699400:A:G p.(Asn106Ser) NC_000007.14:116699400:A:G Identity +NM_000249.4:c.830A>G NP_000240.1:p.Glu277Gly NC_000003.12:37017544:A:G p.(Glu277Gly) NC_000003.12:37017544:A:G p.(Glu277Gly) NC_000003.12:37017544:A:G Identity +NM_007118.4:c.905C>T NP_009049.2:p.Ala302Val NC_000005.10:14291079:C:T p.(Ala302Val) NC_000005.10:14291079:C:T p.(Ala302Val) NC_000005.10:14291079:C:T Identity +NM_207361.6:c.8201G>A NP_997244.4:p.Arg2734His NC_000013.11:38874505:G:A p.(Arg2734His) NC_000013.11:38874505:G:A p.(Arg2734His) NC_000013.11:38874505:G:A Identity +NM_000545.8:c.152G>A NP_000536.6:p.Gly51Asp NC_000012.12:120978919:G:A p.(Gly51Asp) NC_000012.12:120978919:G:A p.(Gly51Asp) NC_000012.12:120978919:G:A Identity +NM_005751.5:c.3071T>G NP_005742.4:p.Val1024Gly NC_000007.14:92002987:T:G p.(Val1024Gly) NC_000007.14:92002987:T:G p.(Val1024Gly) NC_000007.14:92002987:T:G Identity +NM_000222.3:c.1010A>G NP_000213.1:p.Tyr337Cys NC_000004.12:54707181:A:G p.(Tyr337Cys) NC_000004.12:54707181:A:G p.(Tyr337Cys) NC_000004.12:54707181:A:G Identity +NM_018975.4:c.307C>T NP_061848.2:p.Pro103Ser NC_000016.10:75648188:C:T p.(Pro103Ser) NC_000016.10:75648188:C:T p.(Pro103Ser) NC_000016.10:75648188:C:T Identity +NM_001406665.1:c.2953A>G NP_001393594.1:p.Met985Val NC_000016.10:2079149:A:G p.(Met985Val) NC_000016.10:2079149:A:G p.(Met985Val) NC_000016.10:2079149:A:G Identity +NM_004491.5:c.1849C>T NP_004482.4:p.Arg617Ter NC_000019.10:46920523:C:T p.(Arg617Ter) NC_000019.10:46920523:C:T p.(Arg617Ter) NC_000019.10:46920523:C:T Identity +NM_000366.6:c.656A>T NP_000357.3:p.Asp219Val NC_000015.10:63062230:A:T p.(Asp219Val) NC_000015.10:63062230:A:T p.(Asp219Val) NC_000015.10:63062230:A:T Identity +NM_000238.4:c.3093_3094del NP_000229.1:p.Arg1032fs NC_000007.14:150947385:GA: p.(Arg1032AlafsTer86) NC_000007.14:150947385:GA: p.(Arg1032AlafsTer86) NC_000007.14:150947385:GA: Analogous +NM_000038.6:c.3095C>T NP_000029.2:p.Ser1032Leu NC_000005.10:112838688:C:T p.(Ser1032Leu) NC_000005.10:112838688:C:T p.(Ser1032Leu) NC_000005.10:112838688:C:T Identity +NM_052947.4:c.3096T>A NP_443179.3:p.His1032Gln NC_000018.10:58537090:A:T p.(His1032Gln) NC_000018.10:58537090:A:T p.(His1032Gln) NC_000018.10:58537090:A:T Identity +NM_004501.3:c.310dup NP_004492.2:p.Met104fs NC_000001.11:244863997:T:TT p.(Met104AsnfsTer41) NC_000001.11:244863997:T:TT p.(Met104AsnfsTer41) ERR:SPDI Analogous +NM_005120.3:c.5263A>T NP_005111.2:p.Thr1755Ser NC_000023.11:71136517:A:T p.(Thr1755Ser) NC_000023.11:71136517:A:T p.(Thr1755Ser) NC_000023.11:71136517:A:T Identity +NM_000296.4:c.1634T>A NP_000287.4:p.Leu545His NC_000016.10:2116616:A:T p.(Leu545His) NC_000016.10:2116616:A:T p.(Leu545His) NC_000016.10:2116616:A:T Identity +NM_000492.4:c.3099C>A NP_000483.3:p.Phe1033Leu NC_000007.14:117610628:C:A p.(Phe1033Leu) NC_000007.14:117610628:C:A p.(Phe1033Leu) NC_000007.14:117610628:C:A Identity +NM_198578.4:c.3113C>T NP_940980.4:p.Thr1038Ile NC_000012.12:40298258:C:T p.(Thr1038Ile) NC_000012.12:40298258:C:T p.(Thr1038Ile) NC_000012.12:40298258:C:T Identity +NM_052947.4:c.3121C>T NP_443179.3:p.Pro1041Ser NC_000018.10:58537065:G:A p.(Pro1041Ser) NC_000018.10:58537065:G:A p.(Pro1041Ser) NC_000018.10:58537065:G:A Identity +NM_000179.3:c.3129_3130insA NP_000170.1:p.Tyr1044fs NC_000002.12:47801112::A p.(Tyr1044IlefsTer22) NC_000002.12:47801111:T:A p.(Tyr1044IlefsTer22) NC_000002.12:47801112:TT:A Analogous +NM_199420.4:c.3137A>C NP_955452.3:p.Lys1046Thr NC_000003.12:121489793:T:G p.(Lys1046Thr) NC_000003.12:121489793:T:G p.(Lys1046Thr) NC_000003.12:121489793:T:G Identity +NM_000388.4:c.3140C>T NP_000379.3:p.Pro1047Leu NC_000003.12:122285093:C:T p.(Pro1047Leu) NC_000003.12:122285093:C:T p.(Pro1047Leu) NC_000003.12:122285093:C:T Identity +NM_001282512.3:c.314G>A NP_001269441.1:p.Gly105Asp NC_000022.11:19918919:C:T p.(Gly105Asp) NC_000022.11:19918919:C:T p.(Gly105Asp) NC_000022.11:19918919:C:T Identity +NM_000017.4:c.423_424del NP_000008.1:p.Pro142fs NC_000012.12:120737416:CGC:C p.(Pro142PhefsTer5) NC_000012.12:120737416:CGC:C p.(Pro142PhefsTer5) NC_000012.12:120737417:GC: Analogous +NM_000277.3:c.1087A>T NP_000268.1:p.Lys363Ter NC_000012.12:102843757:T:A p.(Lys363Ter) NC_000012.12:102843757:T:A p.(Lys363Ter) NC_000012.12:102843757:T:A Identity +NM_000245.4:c.3106A>G NP_000236.2:p.Thr1036Ala NC_000007.14:116774957:A:G p.(Thr1036Ala) NC_000007.14:116774957:A:G p.(Thr1036Ala) NC_000007.14:116774957:A:G Identity +NM_000264.5:c.3161G>A NP_000255.2:p.Gly1054Glu NC_000009.12:95458019:C:T p.(Gly1054Glu) NC_000009.12:95458019:C:T p.(Gly1054Glu) NC_000009.12:95458019:C:T Identity +NM_001256267.2:c.3165A>T NP_001243196.1:p.Arg1055Ser NC_000010.11:68197357:A:T p.(Arg1055Ser) NC_000010.11:68197357:A:T p.(Arg1055Ser) NC_000010.11:68197357:A:T Identity +NM_000256.3:c.317C>A NP_000247.2:p.Pro106His NC_000011.10:47350590:G:T p.(Pro106His) NC_000011.10:47350590:G:T p.(Pro106His) NC_000011.10:47350590:G:T Identity +NM_004064.5:c.317G>A NP_004055.1:p.Ser106Asn NC_000012.12:12718155:G:A p.(Ser106Asn) NC_000012.12:12718155:G:A p.(Ser106Asn) NC_000012.12:12718155:G:A Identity +NM_000038.6:c.3184_3200dup NP_000029.2:p.Gln1067fs NC_000005.10:112838776:ACAAAGTGAGCAAAGACA:ACAAAGTGAGCAAAGACACAAAGTGAGCAAAGACA p.(Gln1067HisfsTer65) NC_000005.10:112838776:ACAAAGTGAGCAAAGACA:ACAAAGTGAGCAAAGACACAAAGTGAGCAAAGACA p.(Gln1067HisfsTer65) ERR:SPDI Analogous +NM_001164507.2:c.5236A>T NP_001157979.2:p.Lys1746Ter NC_000002.12:151665334:T:A p.(Lys1746Ter) NC_000002.12:151665334:T:A p.(Lys1746Ter) NC_000002.12:151665334:T:A Identity +NM_000260.4:c.2576_2577del NP_000251.3:p.Leu859fs NC_000011.10:77179941:CTC:C p.(Leu859GlnfsTer3) NC_000011.10:77179941:CTC:C p.(Leu859GlnfsTer3) NC_000011.10:77179942:TC: Analogous +NM_000263.4:c.676C>T NP_000254.2:p.Gln226Ter NC_000017.11:42538482:C:T p.(Gln226Ter) NC_000017.11:42538482:C:T p.(Gln226Ter) NC_000017.11:42538482:C:T Identity +NM_000353.3:c.1037_1038del NP_000344.1:p.Leu346fs NC_000016.10:71570271:GAG:G p.(Leu346GlnfsTer5) NC_000016.10:71570271:GAG:G p.(Leu346GlnfsTer5) NC_000016.10:71570271:GA: Analogous +NM_001164507.2:c.2437G>T NP_001157979.2:p.Glu813Ter NC_000002.12:151687711:C:A p.(Glu813Ter) NC_000002.12:151687711:C:A p.(Glu813Ter) NC_000002.12:151687711:C:A Identity +NM_001321269.2:c.435del NP_001308198.1:p.Thr146fs NC_000017.11:58214820:GG:G p.(Thr146LeufsTer83) NC_000017.11:58214820:GG:G p.(Thr146LeufsTer83) NC_000017.11:58214820:G: Analogous +NM_005562.3:c.927T>A NP_005553.2:p.Cys309Ter NC_000001.11:183223297:T:A p.(Cys309Ter) NC_000001.11:183223297:T:A p.(Cys309Ter) NC_000001.11:183223297:T:A Identity +NM_001384474.1:c.205G>T NP_001371403.1:p.Gly69Ter NC_000018.10:46649194:C:A p.(Gly69Ter) NC_000018.10:46649194:C:A p.(Gly69Ter) NC_000018.10:46649194:C:A Identity +NM_001376472.1:c.848del NP_001363401.1:p.Ile283fs NC_000022.11:50068478:A: p.(Ile283ThrfsTer2) NC_000022.11:50068478:A: p.(Ile283ThrfsTer2) NC_000022.11:50068478:A: Analogous +NM_000028.3:c.1091delC NP_000019.2:p.Pro364Glnfs NC_000001.11:99875160:CC:C p.(Pro364GlnfsTer18) NC_000001.11:99875160:CC:C p.(Pro364GlnfsTer18) NC_000001.11:99875161:C: Analogous +NM_000414.4:c.1488del NP_000405.1:p.Thr497fs NC_000005.10:119515029:CC:C p.(Thr497ProfsTer27) NC_000005.10:119515029:CC:C p.(Thr497ProfsTer27) NC_000005.10:119515030:C: Analogous +NM_133259.4:c.3778_3779del NP_573566.2:p.Gln1260fs NC_000002.12:43899264:TG: p.(Gln1260ThrfsTer9) NC_000002.12:43899264:TG: p.(Gln1260ThrfsTer9) NC_000002.12:43899264:TG: Analogous +NM_000082.4:c.274dup NP_000073.1:p.Arg92fs NC_000005.10:60922054:T:TT p.(Arg92LysfsTer5) NC_000005.10:60922054:T:TT p.(Arg92LysfsTer5) ERR:SPDI Analogous +NM_015346.4:c.2618_2619del NP_056161.2:p.Tyr873fs NC_000014.9:67790707:GT: p.(Tyr873SerfsTer15) NC_000014.9:67790707:GT: p.(Tyr873SerfsTer15) NC_000014.9:67790707:GT: Analogous +NM_000228.3:c.444C>G NP_000219.2:p.Tyr148Ter NC_000001.11:209634566:G:C p.(Tyr148Ter) NC_000001.11:209634566:G:C p.(Tyr148Ter) NC_000001.11:209634566:G:C Identity +NM_000411.8:c.353_354del NP_000402.3:p.Glu118fs NC_000021.9:36937090:CTC:C p.(Glu118ValfsTer18) NC_000021.9:36937090:CTC:C p.(Glu118ValfsTer18) NC_000021.9:36937090:CT: Analogous +NM_000426.4:c.7976del NP_000417.3:p.Lys2659fs NC_000006.12:129491973:AAAAA:AAAA p.(Lys2659SerfsTer69) NC_000006.12:129491973:AAAAA:AAAA p.(Lys2659SerfsTer69) NC_000006.12:129491977:A: Analogous +NM_000478.6:c.511del NP_000469.3:p.His171fs NC_000001.11:21564077:CC:C p.(His171MetfsTer27) NC_000001.11:21564077:CC:C p.(His171MetfsTer27) NC_000001.11:21564078:C: Analogous +NM_001040108.2:c.3074A>G NP_001035197.1:p.Glu1025Gly NC_000014.9:75046581:T:C p.(Glu1025Gly) NC_000014.9:75046581:T:C p.(Glu1025Gly) NC_000014.9:75046581:T:C Identity +NM_001177428.1:c.987G>A NP_001170899.1:p.Met329Ile NC_000012.12:109798637:C:T p.(Met329Ile) NC_000012.12:109798637:C:T p.(Met329Ile) NC_000012.12:109798637:C:T Identity +NM_000251.3:c.312_314del NP_000242.1:p.Lys104del NC_000002.12:47408498:AAGAA:AA p.(Lys104del) NC_000002.12:47408498:AAGAA:AA p.(Lys104del) NC_000002.12:47408500:GAA: Identity +NM_001305878.2:c.314G>A NP_001292807.1:p.Arg105Gln NC_000008.11:42048663:C:T p.(Arg105Gln) NC_000008.11:42048663:C:T p.(Arg105Gln) NC_000008.11:42048663:C:T Identity +NM_001166108.2:c.3209G>C NP_001159580.1:p.Ser1070Thr NC_000004.12:168924404:G:C p.(Ser1070Thr) NC_000004.12:168924404:G:C p.(Ser1070Thr) NC_000004.12:168924404:G:C Identity +NM_017617.5:c.3160C>T NP_060087.3:p.Pro1054Ser NC_000009.12:136508880:G:A p.(Pro1054Ser) NC_000009.12:136508880:G:A p.(Pro1054Ser) NC_000009.12:136508880:G:A Identity +NM_000179.3:c.3167T>C NP_000170.1:p.Val1056Ala NC_000002.12:47801149:T:C p.(Val1056Ala) NC_000002.12:47801149:T:C p.(Val1056Ala) NC_000002.12:47801149:T:C Identity +NM_004304.5:c.320G>C NP_004295.2:p.Gly107Ala NC_000002.12:29920339:C:G p.(Gly107Ala) NC_000002.12:29920339:C:G p.(Gly107Ala) NC_000002.12:29920339:C:G Identity +NM_001411127.1:c.3478T>G NP_001398056.1:p.Ser1160Ala NC_000019.10:40395158:A:C p.(Ser1160Ala) NC_000019.10:40395158:A:C p.(Ser1160Ala) NC_000019.10:40395158:A:C Identity +NM_032043.3:c.3201C>G NP_114432.2:p.Cys1067Trp NC_000017.11:61683844:G:C p.(Cys1067Trp) NC_000017.11:61683844:G:C p.(Cys1067Trp) NC_000017.11:61683844:G:C Identity +NM_000059.4:c.3230_3231insAGTAG NP_000050.3:p.Ser1079fs NC_000013.11:32337585::AGTAG p.(Ser1079ValfsTer10) NC_000013.11:32337584:T:AGTAG p.(Ser1079ValfsTer10) NC_000013.11:32337585:TT:AGTAG Analogous +NM_000465.4:c.1133G>A NP_000456.2:p.Arg378Lys NC_000002.12:214780740:C:T p.(Arg378Lys) NC_000002.12:214780740:C:T p.(Arg378Lys) NC_000002.12:214780740:C:T Identity +NM_001352020.1:c.322A>G NP_001338949.1:p.Ser108Gly NC_000016.10:954537:T:C p.(Ser108Gly) NC_000016.10:954537:T:C p.(Ser108Gly) NC_000016.10:954537:T:C Identity +NM_000249.4:c.323G>T NP_000240.1:p.Ser108Ile NC_000003.12:37004416:G:T p.(Ser108Ile) NC_000003.12:37004416:G:T p.(Ser108Ile) NC_000003.12:37004416:G:T Identity +NM_001278616.2:c.264T>A NP_001265545.1:p.His88Gln NC_000002.12:110672758:A:T p.(His88Gln) NC_000002.12:110672758:A:T p.(His88Gln) NC_000002.12:110672758:A:T Identity +NM_000038.6:c.3259_3261del NP_000029.2:p.Leu1087del NC_000005.10:112838851:CCTC:C p.(Leu1087del) NC_000005.10:112838851:CCTC:C p.(Leu1087del) NC_000005.10:112838852:CTC: Identity +NM_001135040.3:c.325C>A NP_001128512.1:p.Pro109Thr NC_000002.12:74377680:G:T p.(Pro109Thr) NC_000002.12:74377680:G:T p.(Pro109Thr) NC_000002.12:74377680:G:T Identity +NM_006231.4:c.1135C>T NP_006222.2:p.His379Tyr NC_000012.12:132675488:G:A p.(His379Tyr) NC_000012.12:132675488:G:A p.(His379Tyr) NC_000012.12:132675488:G:A Identity +NM_001098623.2:c.3261G>C NP_001092093.2:p.Glu1087Asp NC_000001.11:228244350:G:C p.(Glu1087Asp) NC_000001.11:228244350:G:C p.(Glu1087Asp) NC_000001.11:228244350:G:C Identity +NM_198578.4:c.3268C>G NP_940980.4:p.Leu1090Val NC_000012.12:40298413:C:G p.(Leu1090Val) NC_000012.12:40298413:C:G p.(Leu1090Val) NC_000012.12:40298413:C:G Identity +NM_001184.4:c.3258C>G NP_001175.2:p.His1086Gln NC_000003.12:142547823:G:C p.(His1086Gln) NC_000003.12:142547823:G:C p.(His1086Gln) NC_000003.12:142547823:G:C Identity +NM_001354620.2:c.32A>C NP_001341549.1:p.His11Pro NC_000003.12:37004419:A:C p.(His11Pro) NC_000003.12:37004419:A:C p.(His11Pro) NC_000003.12:37004419:A:C Identity +NM_001407296.1:c.3223A>G NP_001394225.1:p.Ile1075Val NC_000016.10:23607930:T:C p.(Ile1075Val) NC_000016.10:23607930:T:C p.(Ile1075Val) NC_000016.10:23607930:T:C Identity +NM_001365951.3:c.3334A>G NP_001352880.1:p.Lys1112Glu NC_000001.11:10337444:A:G p.(Lys1112Glu) NC_000001.11:10337444:A:G p.(Lys1112Glu) NC_000001.11:10337444:A:G Identity +NM_199420.4:c.3197A>T NP_955452.3:p.His1066Leu NC_000003.12:121489733:T:A p.(His1066Leu) NC_000003.12:121489733:T:A p.(His1066Leu) NC_000003.12:121489733:T:A Identity +NM_005431.2:c.319A>G NP_005422.1:p.Ile107Val NC_000007.14:152649165:T:C p.(Ile107Val) NC_000007.14:152649165:T:C p.(Ile107Val) NC_000007.14:152649165:T:C Identity +NM_000051.4:c.3202T>G NP_000042.3:p.Phe1068Val NC_000011.10:108272769:T:G p.(Phe1068Val) NC_000011.10:108272769:T:G p.(Phe1068Val) NC_000011.10:108272769:T:G Identity +NM_001127493.3:c.5042C>T NP_001120965.1:p.Thr1681Ile NC_000004.12:113369518:C:T p.(Thr1681Ile) NC_000004.12:113369518:C:T p.(Thr1681Ile) NC_000004.12:113369518:C:T Identity +NM_001127510.3:c.3197G>T NP_001120982.1:p.Arg1066Ile NC_000005.10:112838790:G:T p.(Arg1066Ile) NC_000005.10:112838790:G:T p.(Arg1066Ile) NC_000005.10:112838790:G:T Identity +NM_001166108.2:c.3349G>T NP_001159580.1:p.Asp1117Tyr NC_000004.12:168925068:G:T p.(Asp1117Tyr) NC_000004.12:168925068:G:T p.(Asp1117Tyr) NC_000004.12:168925068:G:T Identity +NM_001172357.2:c.329T>C NP_001165828.1:p.Leu110Pro NC_000008.11:22163439:T:C p.(Leu110Pro) NC_000008.11:22163439:T:C p.(Leu110Pro) NC_000008.11:22163439:T:C Identity +NM_000038.6:c.3304T>A NP_000029.2:p.Tyr1102Asn NC_000005.10:112838897:T:A p.(Tyr1102Asn) NC_000005.10:112838897:T:A p.(Tyr1102Asn) NC_000005.10:112838897:T:A Identity +NM_001040108.2:c.3326C>G NP_001035197.1:p.Pro1109Arg NC_000014.9:75042431:G:C p.(Pro1109Arg) NC_000014.9:75042431:G:C p.(Pro1109Arg) NC_000014.9:75042431:G:C Identity +NM_002439.5:c.322G>T NP_002430.3:p.Glu108Ter NC_000005.10:80656494:G:T p.(Glu108Ter) NC_000005.10:80656494:G:T p.(Glu108Ter) NC_000005.10:80656494:G:T Identity +NM_001321307.1:c.3235C>T NP_001308236.1:p.Pro1079Ser NC_000011.10:108161871:G:A p.(Pro1079Ser) NC_000011.10:108161871:G:A p.(Pro1079Ser) NC_000011.10:108161871:G:A Identity +NM_000400.4:c.322G>T NP_000391.1:p.Ala108Ser NC_000019.10:45368667:C:A p.(Ala108Ser) NC_000019.10:45368667:C:A p.(Ala108Ser) NC_000019.10:45368667:C:A Identity +NM_001353765.2:c.108del NP_001340694.1:p.Ile37fs NC_000002.12:29223388:GG:G p.(Ile37SerfsTer4) NC_000002.12:29223388:GG:G p.(Ile37SerfsTer4) NC_000002.12:29223388:G: Analogous +NM_000264.5:c.3335A>G NP_000255.2:p.Asn1112Ser NC_000009.12:95453591:T:C p.(Asn1112Ser) NC_000009.12:95453591:T:C p.(Asn1112Ser) NC_000009.12:95453591:T:C Identity +NM_001098623.2:c.10118G>A NP_001092093.2:p.Ser3373Asn NC_000001.11:228288666:G:A p.(Ser3373Asn) NC_000001.11:228288666:G:A p.(Ser3373Asn) NC_000001.11:228288666:G:A Identity +NM_001184.4:c.3257A>G NP_001175.2:p.His1086Arg NC_000003.12:142547824:T:C p.(His1086Arg) NC_000003.12:142547824:T:C p.(His1086Arg) NC_000003.12:142547824:T:C Identity +NM_052947.4:c.325G>C NP_443179.3:p.Glu109Gln NC_000018.10:58580450:C:G p.(Glu109Gln) NC_000018.10:58580450:C:G p.(Glu109Gln) NC_000018.10:58580450:C:G Identity +NM_000179.3:c.3262T>G NP_000170.1:p.Phe1088Val NC_000002.12:47803508:T:G p.(Phe1088Val) NC_000002.12:47803508:T:G p.(Phe1088Val) NC_000002.12:47803508:T:G Identity +NM_001407591.1:c.3342AGT[1] NP_001394520.1:p.Val1116del NC_000017.11:43092180:ACTACT:ACT p.(Val1116del) NC_000017.11:43092185:T:ACT ERR:Parse ERR:Parse Identity +NM_001406821.1:c.3092T>C NP_001393750.1:p.Val1031Ala NC_000002.12:47803635:T:C p.(Val1031Ala) NC_000002.12:47803635:T:C p.(Val1031Ala) NC_000002.12:47803635:T:C Identity +NM_000166.6:c.33T>G NP_000157.1:p.Ser11Arg NC_000023.11:71223739:T:G p.(Ser11Arg) NC_000023.11:71223739:T:G p.(Ser11Arg) NC_000023.11:71223739:T:G Identity +NM_000890.5:c.342C>G NP_000881.3:p.Ile114Met NC_000011.10:128911614:C:G p.(Ile114Met) NC_000011.10:128911614:C:G p.(Ile114Met) NC_000011.10:128911614:C:G Identity +NM_001353765.2:c.226C>T NP_001340694.1:p.Pro76Ser NC_000002.12:29222536:G:A p.(Pro76Ser) NC_000002.12:29222536:G:A p.(Pro76Ser) NC_000002.12:29222536:G:A Identity +NM_000179.3:c.3464A>C NP_000170.1:p.Gln1155Pro NC_000002.12:47804934:A:C p.(Gln1155Pro) NC_000002.12:47804934:A:C p.(Gln1155Pro) NC_000002.12:47804934:A:C Identity +NM_000051.4:c.3475G>C NP_000042.3:p.Ala1159Pro NC_000011.10:108281066:G:C p.(Ala1159Pro) NC_000011.10:108281066:G:C p.(Ala1159Pro) NC_000011.10:108281066:G:C Identity +NM_006767.4:c.350C>T NP_006758.2:p.Pro117Leu NC_000022.11:20987532:C:T p.(Pro117Leu) NC_000022.11:20987532:C:T p.(Pro117Leu) NC_000022.11:20987532:C:T Identity +NM_199420.4:c.3512T>G NP_955452.3:p.Val1171Gly NC_000003.12:121489418:A:C p.(Val1171Gly) NC_000003.12:121489418:A:C p.(Val1171Gly) NC_000003.12:121489418:A:C Identity +LRG_219t1:c.3513_3514dup LRG_219p1:p.Arg1172Ilefs NC_000002.12:47804982:ATA:ATATA ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:Data provider error: ValueError: Transcript LRG_219t1 not found ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_219t1, alt_ac=LRG_219t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_219t1 not found +NM_001040108.2:c.351G>A NP_001035197.1:p.Met117Ile NC_000014.9:75049304:C:T p.(Met117Ile) NC_000014.9:75049304:C:T p.(Met117Ile) NC_000014.9:75049304:C:T Identity +NM_001321307.1:c.113C>T NP_001308236.1:p.Ala38Val NC_000011.10:108197344:G:A p.(Ala38Val) NC_000011.10:108197344:G:A p.(Ala38Val) NC_000011.10:108197344:G:A Identity +NM_198578.4:c.3394A>G NP_940980.4:p.Lys1132Glu NC_000012.12:40299154:A:G p.(Lys1132Glu) NC_000012.12:40299154:A:G p.(Lys1132Glu) NC_000012.12:40299154:A:G Identity +NM_000235.4:c.332C>A NP_000226.2:p.Ala111Asp NC_000010.11:89228295:G:T p.(Ala111Asp) NC_000010.11:89228295:G:T p.(Ala111Asp) NC_000010.11:89228295:G:T Identity +NM_001387283.1:c.332G>A NP_001374212.1:p.Ser111Asn NC_000019.10:10985381:G:A p.(Ser111Asn) NC_000019.10:10985381:G:A p.(Ser111Asn) NC_000019.10:10985381:G:A Identity +NM_001256850.1:c.55793del NP_001243779.1:p.Gly18598fs NC_000002.12:178591008:CCC:CC p.(Gly18598AlafsTer14) NC_000002.12:178591008:CCC:CC p.(Gly18598AlafsTer14) NC_000002.12:178591008:C: Analogous +NM_005732.4:c.3365del NP_005723.2:p.Asp1122fs NC_000005.10:132618269:A: p.(Asp1122ValfsTer11) NC_000005.10:132618269:A: p.(Asp1122ValfsTer11) NC_000005.10:132618269:A: Analogous +NM_000077.5:c.337C>T NP_000068.1:p.Leu113= NC_000009.12:21971021:G:A p.(Leu113=) NC_000009.12:21971021:G:A p.(Leu113=) NC_000009.12:21971021:G:A Identity +NM_005751.5:c.3380A>T NP_005742.4:p.His1127Leu NC_000007.14:92012489:A:T p.(His1127Leu) NC_000007.14:92012489:A:T p.(His1127Leu) NC_000007.14:92012489:A:T Identity +NM_001256850.1:c.56117C>A NP_001243779.1:p.Ala18706Asp NC_000002.12:178590684:G:T p.(Ala18706Asp) NC_000002.12:178590684:G:T p.(Ala18706Asp) NC_000002.12:178590684:G:T Identity +NM_001184985.2:c.338A>G NP_001171914.1:p.Gln113Arg NC_000012.12:753902:A:G p.(Gln113Arg) NC_000012.12:753902:A:G p.(Gln113Arg) NC_000012.12:753902:A:G Identity +NM_001304969.3:c.3235C>T NP_001291898.1:p.His1079Tyr NC_000002.12:158676848:C:T p.(His1079Tyr) NC_000002.12:158676848:C:T p.(His1079Tyr) NC_000002.12:158676848:C:T Identity +NM_198578.4:c.3254T>G NP_940980.4:p.Leu1085Arg NC_000012.12:40298399:T:G p.(Leu1085Arg) NC_000012.12:40298399:T:G p.(Leu1085Arg) NC_000012.12:40298399:T:G Identity +NM_001411127.1:c.3553A>C NP_001398056.1:p.Thr1185Pro NC_000019.10:40395083:T:G p.(Thr1185Pro) NC_000019.10:40395083:T:G p.(Thr1185Pro) NC_000019.10:40395083:T:G Identity +NM_004064.5:c.341C>T NP_004055.1:p.Pro114Leu NC_000012.12:12718179:C:T p.(Pro114Leu) NC_000012.12:12718179:C:T p.(Pro114Leu) NC_000012.12:12718179:C:T Identity +NM_052947.4:c.3423C>A NP_443179.3:p.Ser1141Arg NC_000018.10:58536763:G:T p.(Ser1141Arg) NC_000018.10:58536763:G:T p.(Ser1141Arg) NC_000018.10:58536763:G:T Identity +NM_001407296.1:c.3389T>C NP_001394225.1:p.Leu1130Pro NC_000016.10:23603570:A:G p.(Leu1130Pro) NC_000016.10:23603570:A:G p.(Leu1130Pro) NC_000016.10:23603570:A:G Identity +NM_000038.6:c.3453del NP_000029.2:p.Glu1151fs NC_000005.10:112839045:AA:A p.(Glu1151AspfsTer14) NC_000005.10:112839045:AA:A p.(Glu1151AspfsTer14) NC_000005.10:112839046:A: Analogous +NM_018975.4:c.346G>C NP_061848.2:p.Gly116Arg NC_000016.10:75648227:G:C p.(Gly116Arg) NC_000016.10:75648227:G:C p.(Gly116Arg) NC_000016.10:75648227:G:C Identity +NM_001040113.2:c.3496C>A NP_001035202.1:p.Leu1166Met NC_000016.10:15735396:G:T p.(Leu1166Met) NC_000016.10:15735396:G:T p.(Leu1166Met) NC_000016.10:15735396:G:T Identity +NM_001035512.3:c.247A>C NP_001030589.1:p.Lys83Gln NC_000001.11:161356783:A:C p.(Lys83Gln) NC_000001.11:161356783:A:C p.(Lys83Gln) NC_000001.11:161356783:A:C Identity +NM_000179.3:c.3505C>T NP_000170.1:p.Pro1169Ser NC_000002.12:47804975:C:T p.(Pro1169Ser) NC_000002.12:47804975:C:T p.(Pro1169Ser) NC_000002.12:47804975:C:T Identity +NM_001321307.1:c.3538A>G NP_001308236.1:p.Ser1180Gly NC_000011.10:108161568:T:C p.(Ser1180Gly) NC_000011.10:108161568:T:C p.(Ser1180Gly) NC_000011.10:108161568:T:C Identity +LRG_130t3:c.3532_3535del LRG_130p3:p.Asp1178Ilefs NC_000005.10:112839122:ATTGATT:ATT ERR:Data provider error: ValueError: Transcript LRG_130t3 not found ERR:Data provider error: ValueError: Transcript LRG_130t3 not found ERR:AlignmentMapper(tx_ac=LRG_130t3, alt_ac=LRG_130t3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_130t3, alt_ac=LRG_130t3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_130t3 not found +NM_001130144.3:c.3541G>A NP_001123616.1:p.Gly1181Ser NC_000011.10:65539725:C:T p.(Gly1181Ser) NC_000011.10:65539725:C:T p.(Gly1181Ser) NC_000011.10:65539725:C:T Identity +NM_199420.4:c.3542A>G NP_955452.3:p.Asn1181Ser NC_000003.12:121489388:T:C p.(Asn1181Ser) NC_000003.12:121489388:T:C p.(Asn1181Ser) NC_000003.12:121489388:T:C Identity +NM_001040108.2:c.3549A>T NP_001035197.1:p.Lys1183Asn NC_000014.9:75039931:T:A p.(Lys1183Asn) NC_000014.9:75039931:T:A p.(Lys1183Asn) NC_000014.9:75039931:T:A Identity +NM_053046.4:c.354A>C NP_444274.1:p.Lys118Asn NC_000019.10:40800925:A:C p.(Lys118Asn) NC_000019.10:40800925:A:C p.(Lys118Asn) NC_000019.10:40800925:A:C Identity +NM_000118.4:c.1146C>G NP_000109.1:p.Cys382Trp NC_000009.12:127820025:G:C p.(Cys382Trp) NC_000009.12:127820025:G:C p.(Cys382Trp) NC_000009.12:127820025:G:C Identity +NM_001406822.1:c.3262delG NP_001393751.1:p.Glu1088Lysfs NC_000002.12:47805619:G: p.(Glu1088LysfsTer8) NC_000002.12:47805619:G: p.(Glu1088LysfsTer8) NC_000002.12:47805619:G: Analogous +NM_000179.3:c.3566C>T NP_000170.1:p.Thr1189Ile NC_000002.12:47805626:C:T p.(Thr1189Ile) NC_000002.12:47805626:C:T p.(Thr1189Ile) NC_000002.12:47805626:C:T Identity +NM_005732.4:c.3400A>C NP_005723.2:p.Lys1134Gln NC_000005.10:132637124:A:C p.(Lys1134Gln) NC_000005.10:132637124:A:C p.(Lys1134Gln) NC_000005.10:132637124:A:C Identity +NM_001040108.2:c.3419C>A NP_001035197.1:p.Ser1140Tyr NC_000014.9:75041660:G:T p.(Ser1140Tyr) NC_000014.9:75041660:G:T p.(Ser1140Tyr) NC_000014.9:75041660:G:T Identity +NM_000051.4:c.1141dup NP_000042.3:p.Ser381fs NC_000011.10:108249007:A:AA p.(Ser381LysfsTer26) NC_000011.10:108249007:A:AA p.(Ser381LysfsTer26) ERR:SPDI Analogous +NM_001040108.2:c.3587A>C NP_001035197.1:p.Asp1196Ala NC_000014.9:75038395:T:G p.(Asp1196Ala) NC_000014.9:75038395:T:G p.(Asp1196Ala) NC_000014.9:75038395:T:G Identity +NM_000179.3:c.3589del NP_000170.1:p.Thr1197fs NC_000002.12:47805647:AAA:AA p.(Thr1197LeufsTer19) NC_000002.12:47805647:AAA:AA p.(Thr1197LeufsTer19) NC_000002.12:47805649:A: Analogous +NM_017617.5:c.3600C>G NP_060087.3:p.Asp1200Glu NC_000009.12:136507347:G:C p.(Asp1200Glu) NC_000009.12:136507347:G:C p.(Asp1200Glu) NC_000009.12:136507347:G:C Identity +NM_000038.6:c.3604T>G NP_000029.2:p.Ser1202Ala NC_000005.10:112839197:T:G p.(Ser1202Ala) NC_000005.10:112839197:T:G p.(Ser1202Ala) NC_000005.10:112839197:T:G Identity +NM_000492.4:c.3611G>T NP_000483.3:p.Trp1204Leu NC_000007.14:117627663:G:T p.(Trp1204Leu) NC_000007.14:117627663:G:T p.(Trp1204Leu) NC_000007.14:117627663:G:T Identity +NM_001195573.1:c.3623A>C NP_001182502.1:p.Glu1208Ala NC_000014.9:95103772:T:G p.(Glu1208Ala) NC_000014.9:95103772:T:G p.(Glu1208Ala) NC_000014.9:95103772:T:G Identity +NM_001127493.3:c.3617C>T NP_001120965.1:p.Thr1206Ile NC_000004.12:113336628:C:T p.(Thr1206Ile) NC_000004.12:113336628:C:T p.(Thr1206Ile) NC_000004.12:113336628:C:T Identity +NM_000256.3:c.367C>T NP_000247.2:p.Pro123Ser NC_000011.10:47350540:G:A p.(Pro123Ser) NC_000011.10:47350540:G:A p.(Pro123Ser) NC_000011.10:47350540:G:A Identity +NM_001184.4:c.3316C>A NP_001175.2:p.Pro1106Thr NC_000003.12:142547765:G:T p.(Pro1106Thr) NC_000003.12:142547765:G:T p.(Pro1106Thr) NC_000003.12:142547765:G:T Identity +NM_000057.4:c.3335A>C NP_000048.1:p.Asn1112Thr NC_000015.10:90798313:A:C p.(Asn1112Thr) NC_000015.10:90798313:A:C p.(Asn1112Thr) NC_000015.10:90798313:A:C Identity +NM_001040108.1:c.3336_3337GA[1] NP_001035197.1:p.Arg1113Serfs NC_000014.9:75042417:CTCTC:CTC ERR:Data provider error: ValueError: Transcript NM_001040108.1 not found ERR:Data provider error: ValueError: Transcript NM_001040108.1 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_001040108.1 not found +NM_001321307.1:c.3385C>T NP_001308236.1:p.Pro1129Ser NC_000011.10:108161721:G:A p.(Pro1129Ser) NC_000011.10:108161721:G:A p.(Pro1129Ser) NC_000011.10:108161721:G:A Identity +NM_001269039.3:c.370C>A NP_001255968.1:p.Gln124Lys NC_000010.11:110964727:C:A p.(Gln124Lys) NC_000010.11:110964727:C:A p.(Gln124Lys) NC_000010.11:110964727:C:A Identity +NM_001300823.2:c.1058G>T NP_001287752.1:p.Gly353Val NC_000004.12:120798303:C:A p.(Gly353Val) NC_000004.12:120798303:C:A p.(Gly353Val) NC_000004.12:120798303:C:A Identity +NM_004360.5:c.1153C>G NP_004351.1:p.Pro385Ala NC_000016.10:68813327:C:G p.(Pro385Ala) NC_000016.10:68813327:C:G p.(Pro385Ala) NC_000016.10:68813327:C:G Identity +NM_000249.4:c.376T>C NP_000240.1:p.Tyr126His NC_000003.12:37004469:T:C p.(Tyr126His) NC_000003.12:37004469:T:C p.(Tyr126His) NC_000003.12:37004469:T:C Identity +NM_001367624.2:c.3854C>T NP_001354553.1:p.Ala1285Val NC_000016.10:88431323:C:T p.(Ala1285Val) NC_000016.10:88431323:C:T p.(Ala1285Val) NC_000016.10:88431323:C:T Identity +NM_002769.5:c.378C>G NP_002760.1:p.Ile126Met NC_000007.14:142751950:C:G p.(Ile126Met) NC_000007.14:142751950:C:G p.(Ile126Met) NC_000007.14:142751950:C:G Identity +NM_199420.4:c.3484G>C NP_955452.3:p.Ala1162Pro NC_000003.12:121489446:C:G p.(Ala1162Pro) NC_000003.12:121489446:C:G p.(Ala1162Pro) NC_000003.12:121489446:C:G Identity +NM_001378454.1:c.3488A>T NP_001365383.1:p.His1163Leu NC_000002.12:73450014:A:T p.(His1163Leu) NC_000002.12:73450014:A:T p.(His1163Leu) NC_000002.12:73450014:A:T Identity +NM_001411127.1:c.1429C>T NP_001398056.1:p.Pro477Ser NC_000019.10:40397207:G:A p.(Pro477Ser) NC_000019.10:40397207:G:A p.(Pro477Ser) NC_000019.10:40397207:G:A Identity +NM_002354.3:c.337A>G NP_002345.2:p.Thr113Ala NC_000002.12:47373959:A:G p.(Thr113Ala) NC_000002.12:47373959:A:G p.(Thr113Ala) NC_000002.12:47373959:A:G Identity +NM_032043.3:c.3574G>T NP_114432.2:p.Asp1192Tyr NC_000017.11:61683471:C:A p.(Asp1192Tyr) NC_000017.11:61683471:C:A p.(Asp1192Tyr) NC_000017.11:61683471:C:A Identity +NM_000143.4:c.359T>C NP_000134.2:p.Ile120Thr NC_000001.11:241513621:A:G p.(Ile120Thr) NC_000001.11:241513621:A:G p.(Ile120Thr) NC_000001.11:241513621:A:G Identity +NM_000264.5:c.3604C>A NP_000255.2:p.Pro1202Thr NC_000009.12:95449268:G:T p.(Pro1202Thr) NC_000009.12:95449268:G:T p.(Pro1202Thr) NC_000009.12:95449268:G:T Identity +NM_052947.4:c.3604G>C NP_443179.3:p.Glu1202Gln NC_000018.10:58536582:C:G p.(Glu1202Gln) NC_000018.10:58536582:C:G p.(Glu1202Gln) NC_000018.10:58536582:C:G Identity +NM_001367624.2:c.3716C>G NP_001354553.1:p.Thr1239Arg NC_000016.10:88431185:C:G p.(Thr1239Arg) NC_000016.10:88431185:C:G p.(Thr1239Arg) NC_000016.10:88431185:C:G Identity +NM_000264.5:c.3635G>A NP_000255.2:p.Gly1212Asp NC_000009.12:95449237:C:T p.(Gly1212Asp) NC_000009.12:95449237:C:T p.(Gly1212Asp) NC_000009.12:95449237:C:T Identity +NM_001257962.2:c.364C>T NP_001244891.1:p.Arg122Trp NC_000004.12:185514303:G:A p.(Arg122Trp) NC_000004.12:185514303:G:A p.(Arg122Trp) NC_000004.12:185514303:G:A Identity +NM_001184.4:c.3669A>G NP_001175.2:p.Ile1223Met NC_000003.12:142538537:T:C p.(Ile1223Met) NC_000003.12:142538537:T:C p.(Ile1223Met) NC_000003.12:142538537:T:C Identity +NM_001195573.1:c.3710_3711del NP_001182502.1:p.Leu1237fs NC_000014.9:95103684:GAGAG:GAG p.(Leu1237ProfsTer3) NC_000014.9:95103684:GAGAG:GAG p.(Leu1237ProfsTer3) NC_000014.9:95103684:GA: Analogous +NM_030665.4:c.3714C>A NP_109590.3:p.Asn1238Lys NC_000017.11:17796661:C:A p.(Asn1238Lys) NC_000017.11:17796661:C:A p.(Asn1238Lys) NC_000017.11:17796661:C:A Identity +NM_001256182.2:c.3754G>T NP_001243111.1:p.Ala1252Ser NC_000016.10:89282787:C:A p.(Ala1252Ser) NC_000016.10:89282787:C:A p.(Ala1252Ser) NC_000016.10:89282787:C:A Identity +NM_001293306.2:c.3808G>A NP_001280235.2:p.Val1270Met NC_000003.12:38712438:C:T p.(Val1270Met) NC_000003.12:38712438:C:T p.(Val1270Met) NC_000003.12:38712438:C:T Identity +NM_000077.5:c.382C>G NP_000068.1:p.Arg128Gly NC_000009.12:21970976:G:C p.(Arg128Gly) NC_000009.12:21970976:G:C p.(Arg128Gly) NC_000009.12:21970976:G:C Identity +NM_000179.3:c.3864A>G NP_000170.1:p.Lys1288= NC_000002.12:47806513:A:G p.(Lys1288=) NC_000002.12:47806513:A:G p.(Lys1288=) NC_000002.12:47806513:A:G Identity +NM_000237.3:c.386A>C NP_000228.1:p.Lys129Thr NC_000008.11:19951904:A:C p.(Lys129Thr) NC_000008.11:19951904:A:C p.(Lys129Thr) NC_000008.11:19951904:A:C Identity +NM_001353229.2:c.386T>G NP_001340158.1:p.Leu129Arg NC_000017.11:17226185:A:C p.(Leu129Arg) NC_000017.11:17226185:A:C p.(Leu129Arg) NC_000017.11:17226185:A:C Identity +NM_001040108.2:c.3884G>A NP_001035197.1:p.Ser1295Asn NC_000014.9:75030645:C:T p.(Ser1295Asn) NC_000014.9:75030645:C:T p.(Ser1295Asn) NC_000014.9:75030645:C:T Identity +NM_005477.3:c.343A>G NP_005468.1:p.Ser115Gly NC_000015.10:73367927:T:C p.(Ser115Gly) NC_000015.10:73367927:T:C p.(Ser115Gly) NC_000015.10:73367927:T:C Identity +NM_000038.6:c.3451G>A NP_000029.2:p.Glu1151Lys NC_000005.10:112839044:G:A p.(Glu1151Lys) NC_000005.10:112839044:G:A p.(Glu1151Lys) NC_000005.10:112839044:G:A Identity +NM_018975.4:c.346G>T NP_061848.2:p.Gly116Trp NC_000016.10:75648227:G:T p.(Gly116Trp) NC_000016.10:75648227:G:T p.(Gly116Trp) NC_000016.10:75648227:G:T Identity +NM_000179.3:c.3481C>T NP_000170.1:p.Pro1161Ser NC_000002.12:47804951:C:T p.(Pro1161Ser) NC_000002.12:47804951:C:T p.(Pro1161Ser) NC_000002.12:47804951:C:T Identity +NM_001406827.1:c.3199_3200dup NP_001393756.1:p.Leu1068Glyfs NC_000002.12:47804966:AG:AGAG p.(Leu1068GlyfsTer18) NC_000002.12:47804966:AG:AGAG p.(Leu1068GlyfsTer18) ERR:SPDI Analogous +NM_000057.4:c.3506C>T NP_000048.1:p.Ala1169Val NC_000015.10:90803667:C:T p.(Ala1169Val) NC_000015.10:90803667:C:T p.(Ala1169Val) NC_000015.10:90803667:C:T Identity +NM_000059.4:c.3803_3804del NP_000050.3:p.Ser1268fs NC_000013.11:32338156:TCT:T p.(Ser1268CysfsTer6) NC_000013.11:32338156:TCT:T p.(Ser1268CysfsTer6) NC_000013.11:32338157:CT: Analogous +NM_000264.5:c.3902A>C NP_000255.2:p.Gln1301Pro NC_000009.12:95447353:T:G p.(Gln1301Pro) NC_000009.12:95447353:T:G p.(Gln1301Pro) NC_000009.12:95447353:T:G Identity +NM_000057.4:c.3916G>A NP_000048.1:p.Gly1306Ser NC_000015.10:90811245:G:A p.(Gly1306Ser) NC_000015.10:90811245:G:A p.(Gly1306Ser) NC_000015.10:90811245:G:A Identity +NM_000179.3:c.3567_3569del NP_000170.1:p.Phe1191del NC_000002.12:47805627:ATT: p.(Phe1191del) NC_000002.12:47805627:ATT: p.(Phe1191del) NC_000002.12:47805627:ATT: Identity +NM_001256850.1:c.57944T>C NP_001243779.1:p.Ile19315Thr NC_000002.12:178588857:A:G p.(Ile19315Thr) NC_000002.12:178588857:A:G p.(Ile19315Thr) NC_000002.12:178588857:A:G Identity +NM_000249.4:c.356C>T NP_000240.1:p.Thr119Ile NC_000003.12:37004449:C:T p.(Thr119Ile) NC_000003.12:37004449:C:T p.(Thr119Ile) NC_000003.12:37004449:C:T Identity +NM_052947.4:c.3586G>C NP_443179.3:p.Val1196Leu NC_000018.10:58536600:C:G p.(Val1196Leu) NC_000018.10:58536600:C:G p.(Val1196Leu) NC_000018.10:58536600:C:G Identity +NM_000323.2:c.359C>T NP_000314.1:p.Thr120Ile NC_000010.11:43102362:C:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001321307.1:c.3890C>G NP_001308236.1:p.Pro1297Arg NC_000011.10:108161216:G:C p.(Pro1297Arg) NC_000011.10:108161216:G:C p.(Pro1297Arg) NC_000011.10:108161216:G:C Identity +NM_199420.4:c.3871C>G NP_955452.3:p.Leu1291Val NC_000003.12:121489059:G:C p.(Leu1291Val) NC_000003.12:121489059:G:C p.(Leu1291Val) NC_000003.12:121489059:G:C Identity +NM_000179.3:c.3877G>A NP_000170.1:p.Ala1293Thr NC_000002.12:47806526:G:A p.(Ala1293Thr) NC_000002.12:47806526:G:A p.(Ala1293Thr) NC_000002.12:47806526:G:A Identity +NM_001369.3:c.3962T>G NP_001360.1:p.Val1321Gly NC_000005.10:13867864:A:C p.(Val1321Gly) NC_000005.10:13867864:A:C p.(Val1321Gly) NC_000005.10:13867864:A:C Identity +NM_000059.4:c.3967A>C NP_000050.3:p.Lys1323Gln NC_000013.11:32338321:A:C p.(Lys1323Gln) NC_000013.11:32338321:A:C p.(Lys1323Gln) NC_000013.11:32338321:A:C Identity +NM_001319034.2:c.3607A>T NP_001305963.1:p.Met1203Leu NC_000006.12:7579796:A:T p.(Met1203Leu) NC_000006.12:7579796:A:T p.(Met1203Leu) NC_000006.12:7579796:A:T Identity +NM_006767.4:c.1149G>C NP_006758.2:p.Glu383Asp NC_000022.11:20992368:G:C p.(Glu383Asp) NC_000022.11:20992368:G:C p.(Glu383Asp) NC_000022.11:20992368:G:C Identity +NM_198578.4:c.3643G>T NP_940980.4:p.Ala1215Ser NC_000012.12:40303999:G:T p.(Ala1215Ser) NC_000012.12:40303999:G:T p.(Ala1215Ser) NC_000012.12:40303999:G:T Identity +NM_001321307.1:c.3692G>A NP_001308236.1:p.Gly1231Asp NC_000011.10:108161414:C:T p.(Gly1231Asp) NC_000011.10:108161414:C:T p.(Gly1231Asp) NC_000011.10:108161414:C:T Identity +NM_001293306.2:c.3881T>C NP_001280235.2:p.Phe1294Ser NC_000003.12:38712365:A:G p.(Phe1294Ser) NC_000003.12:38712365:A:G p.(Phe1294Ser) NC_000003.12:38712365:A:G Identity +NM_001164269.2:c.1016A>G NP_001157741.1:p.Lys339Arg NC_000015.10:40731170:A:G p.(Lys339Arg) NC_000015.10:40731170:A:G p.(Lys339Arg) NC_000015.10:40731170:A:G Identity +NM_001410772.1:c.38G>A NP_001397701.1:p.Gly13Asp NC_000003.12:52409742:C:T p.(Gly13Asp) NC_000003.12:52409742:C:T p.(Gly13Asp) NC_000003.12:52409742:C:T Identity +NM_000192.3:c.115C>T NP_000183.2:p.Pro39Ser NC_000012.12:114403783:G:A p.(Pro39Ser) NC_000012.12:114403783:G:A p.(Pro39Ser) NC_000012.12:114403783:G:A Identity +NM_005751.5:c.3938A>G NP_005742.4:p.Asn1313Ser NC_000007.14:92022337:A:G p.(Asn1313Ser) NC_000007.14:92022337:A:G p.(Asn1313Ser) NC_000007.14:92022337:A:G Identity +NM_000492.4:c.3953T>G NP_000483.3:p.Val1318Gly NC_000007.14:117652920:T:G p.(Val1318Gly) NC_000007.14:117652920:T:G p.(Val1318Gly) NC_000007.14:117652920:T:G Identity +NM_000400.4:c.1160A>C NP_000391.1:p.Glu387Ala NC_000019.10:45361600:T:G p.(Glu387Ala) NC_000019.10:45361600:T:G p.(Glu387Ala) NC_000019.10:45361600:T:G Identity +NM_000264.5:c.3968T>G NP_000255.2:p.Phe1323Cys NC_000009.12:95447287:A:C p.(Phe1323Cys) NC_000009.12:95447287:A:C p.(Phe1323Cys) NC_000009.12:95447287:A:C Identity +NM_002907.4:c.1160T>C NP_002898.2:p.Ile387Thr NC_000012.12:21475523:A:G p.(Ile387Thr) NC_000012.12:21475523:A:G p.(Ile387Thr) NC_000012.12:21475523:A:G Identity +NM_000384.3:c.11612T>C NP_000375.3:p.Val3871Ala NC_000002.12:21005255:A:G p.(Val3871Ala) NC_000002.12:21005255:A:G p.(Val3871Ala) NC_000002.12:21005255:A:G Identity +NM_001346599.2:c.164G>A NP_001333528.1:p.Ser55Asn NC_000007.14:105542531:G:A p.(Ser55Asn) NC_000007.14:105542531:G:A p.(Ser55Asn) NC_000007.14:105542531:G:A Identity +NM_001321307.1:c.3800C>T NP_001308236.1:p.Ala1267Val NC_000011.10:108161306:G:A p.(Ala1267Val) NC_000011.10:108161306:G:A p.(Ala1267Val) NC_000011.10:108161306:G:A Identity +NM_018975.4:c.1160C>T NP_061848.2:p.Ala387Val NC_000016.10:75656570:C:T p.(Ala387Val) NC_000016.10:75656570:C:T p.(Ala387Val) NC_000016.10:75656570:C:T Identity +NM_002439.5:c.1161del NP_002430.3:p.Phe387fs NC_000005.10:80675111:TTTTT:TTTT p.(Phe387LeufsTer28) NC_000005.10:80675111:TTTTT:TTTT p.(Phe387LeufsTer28) NC_000005.10:80675115:T: Analogous +NM_130468.4:c.37A>G NP_569735.1:p.Asn13Asp NC_000015.10:40471249:A:G p.(Asn13Asp) NC_000015.10:40471249:A:G p.(Asn13Asp) NC_000015.10:40471249:A:G Identity +NM_005751.5:c.3803A>G NP_005742.4:p.Asn1268Ser NC_000007.14:92017067:A:G p.(Asn1268Ser) NC_000007.14:92017067:A:G p.(Asn1268Ser) NC_000007.14:92017067:A:G Identity +NM_001256850.1:c.60370G>A NP_001243779.1:p.Glu20124Lys NC_000002.12:178583888:C:T p.(Glu20124Lys) NC_000002.12:178583888:C:T p.(Glu20124Lys) NC_000002.12:178583888:C:T Identity +NM_001293306.2:c.3821T>C NP_001280235.2:p.Val1274Ala NC_000003.12:38712425:A:G p.(Val1274Ala) NC_000003.12:38712425:A:G p.(Val1274Ala) NC_000003.12:38712425:A:G Identity +NM_001184.4:c.4012G>A NP_001175.2:p.Val1338Met NC_000003.12:142524132:C:T p.(Val1338Met) NC_000003.12:142524132:C:T p.(Val1338Met) NC_000003.12:142524132:C:T Identity +NM_006231.4:c.4024del NP_006222.2:p.Ala1342fs NC_000012.12:132649053:CC:C p.(Ala1342ProfsTer19) NC_000012.12:132649053:CC:C p.(Ala1342ProfsTer19) NC_000012.12:132649053:C: Analogous +NM_002471.4:c.4037G>A NP_002462.2:p.Arg1346Gln NC_000014.9:23388996:C:T p.(Arg1346Gln) NC_000014.9:23388996:C:T p.(Arg1346Gln) NC_000014.9:23388996:C:T Identity +NM_199420.4:c.4061T>A NP_955452.3:p.Met1354Lys NC_000003.12:121488869:A:T p.(Met1354Lys) NC_000003.12:121488869:A:T p.(Met1354Lys) NC_000003.12:121488869:A:T Identity +NM_002769.5:c.385C>T NP_002760.1:p.Pro129Ser NC_000007.14:142751957:C:T p.(Pro129Ser) NC_000007.14:142751957:C:T p.(Pro129Ser) NC_000007.14:142751957:C:T Identity +NM_000179.2:c.3862_3864delAAAinsTACG NP_000170.1:p.Lys1288Tyrfs NC_000002.12:47806511:AAA:TACG ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:AlignmentMapper(tx_ac=NM_000179.2, alt_ac=NM_000179.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000179.2, alt_ac=NM_000179.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000179.2 not found +NM_017617.5:c.3870C>G NP_060087.3:p.Asp1290Glu NC_000009.12:136506746:G:C p.(Asp1290Glu) NC_000009.12:136506746:G:C p.(Asp1290Glu) NC_000009.12:136506746:G:C Identity +NM_001010874.5:c.1013A>C NP_001010874.2:p.Gln338Pro NC_000004.12:64280150:T:G p.(Gln338Pro) NC_000004.12:64280150:T:G p.(Gln338Pro) NC_000004.12:64280150:T:G Identity +NM_006361.6:c.38A>G NP_006352.2:p.Lys13Arg NC_000017.11:48728555:T:C p.(Lys13Arg) NC_000017.11:48728555:T:C p.(Lys13Arg) NC_000017.11:48728555:T:C Identity +NM_001128844.3:c.38G>C NP_001122316.1:p.Arg13Pro NC_000019.10:10984188:G:C p.(Arg13Pro) NC_000019.10:10984188:G:C p.(Arg13Pro) NC_000019.10:10984188:G:C Identity +NM_001407296.1:c.3449A>C NP_001394225.1:p.His1150Pro NC_000016.10:23603510:T:G p.(His1150Pro) NC_000016.10:23603510:T:G p.(His1150Pro) NC_000016.10:23603510:T:G Identity +NM_001321307.1:c.3536G>A NP_001308236.1:p.Cys1179Tyr NC_000011.10:108161570:C:T p.(Cys1179Tyr) NC_000011.10:108161570:C:T p.(Cys1179Tyr) NC_000011.10:108161570:C:T Identity +NM_001322015.2:c.41A>G NP_001308944.1:p.His14Arg NC_000007.14:6002639:T:C p.(His14Arg) NC_000007.14:6002639:T:C p.(His14Arg) NC_000007.14:6002639:T:C Identity +NM_001195573.1:c.3548A>G NP_001182502.1:p.Asn1183Ser NC_000014.9:95103847:T:C p.(Asn1183Ser) NC_000014.9:95103847:T:C p.(Asn1183Ser) NC_000014.9:95103847:T:C Identity +NM_001040108.2:c.3553A>G NP_001035197.1:p.Met1185Val NC_000014.9:75039927:T:C p.(Met1185Val) NC_000014.9:75039927:T:C p.(Met1185Val) NC_000014.9:75039927:T:C Identity +NM_001184.4:c.3560A>T NP_001175.2:p.Asp1187Val NC_000003.12:142540924:T:A p.(Asp1187Val) NC_000003.12:142540924:T:A p.(Asp1187Val) NC_000003.12:142540924:T:A Identity +NM_000548.5:c.3562C>G NP_000539.2:p.Pro1188Ala NC_000016.10:2080328:C:G p.(Pro1188Ala) NC_000016.10:2080328:C:G p.(Pro1188Ala) NC_000016.10:2080328:C:G Identity +NM_001365951.3:c.356T>C NP_001352880.1:p.Ile119Thr NC_000001.11:10258664:T:C p.(Ile119Thr) NC_000001.11:10258664:T:C p.(Ile119Thr) NC_000001.11:10258664:T:C Identity +NM_000214.3:c.3579C>G NP_000205.1:p.His1193Gln NC_000020.11:10639575:G:C p.(His1193Gln) NC_000020.11:10639575:G:C p.(His1193Gln) NC_000020.11:10639575:G:C Identity +NM_000179.3:c.3598A>C NP_000170.1:p.Ile1200Leu NC_000002.12:47805658:A:C p.(Ile1200Leu) NC_000002.12:47805658:A:C p.(Ile1200Leu) NC_000002.12:47805658:A:C Identity +NM_000179.3:c.3617C>T NP_000170.1:p.Ala1206Val NC_000002.12:47805677:C:T p.(Ala1206Val) NC_000002.12:47805677:C:T p.(Ala1206Val) NC_000002.12:47805677:C:T Identity +NM_001082486.2:c.104T>C NP_001075955.2:p.Leu35Pro NC_000016.10:67660040:A:G p.(Leu35Pro) NC_000016.10:67660040:A:G p.(Leu35Pro) NC_000016.10:67660040:A:G Identity +NM_001040113.2:c.3656T>G NP_001035202.1:p.Leu1219Arg NC_000016.10:15732579:A:C p.(Leu1219Arg) NC_000016.10:15732579:A:C p.(Leu1219Arg) NC_000016.10:15732579:A:C Identity +NM_000059.4:c.365_366delinsTC NP_000050.3:p.Thr122Ile NC_000013.11:32325123:CT:TC p.(Thr122Ile) NC_000013.11:32325123:CT:TC p.(Thr122Ile) NC_000013.11:32325123:CT:TC Identity +NM_001321307.1:c.3688G>A NP_001308236.1:p.Val1230Ile NC_000011.10:108161418:C:T p.(Val1230Ile) NC_000011.10:108161418:C:T p.(Val1230Ile) NC_000011.10:108161418:C:T Identity +NM_198578.4:c.3686A>C NP_940980.4:p.His1229Pro NC_000012.12:40304042:A:C p.(His1229Pro) NC_000012.12:40304042:A:C p.(His1229Pro) NC_000012.12:40304042:A:C Identity +NM_001103.4:c.368T>C NP_001094.1:p.Val123Ala NC_000001.11:236720110:T:C p.(Val123Ala) NC_000001.11:236720110:T:C p.(Val123Ala) NC_000001.11:236720110:T:C Identity +NM_052947.4:c.4093G>A NP_443179.3:p.Gly1365Arg NC_000018.10:58536093:C:T p.(Gly1365Arg) NC_000018.10:58536093:C:T p.(Gly1365Arg) NC_000018.10:58536093:C:T Identity +NM_002439.5:c.410T>C NP_002430.3:p.Leu137Ser NC_000005.10:80665193:T:C p.(Leu137Ser) NC_000005.10:80665193:T:C p.(Leu137Ser) NC_000005.10:80665193:T:C Identity +NM_001318194.2:c.39G>C NP_001305123.1:p.Gln13His NC_000016.10:2044785:C:G p.(Gln13His) NC_000016.10:2044785:C:G p.(Gln13His) NC_000016.10:2044785:C:G Identity +NM_001040108.2:c.4118G>A NP_001035197.1:p.Ser1373Asn NC_000014.9:75018952:C:T p.(Ser1373Asn) NC_000014.9:75018952:C:T p.(Ser1373Asn) NC_000014.9:75018952:C:T Identity +NM_001211.6:c.1165T>A NP_001202.5:p.Ser389Thr NC_000015.10:40196650:T:A p.(Ser389Thr) NC_000015.10:40196650:T:A p.(Ser389Thr) NC_000015.10:40196650:T:A Identity +NM_001024688.3:c.167T>A NP_001019859.1:p.Phe56Tyr NC_000008.11:89980800:A:T p.(Phe56Tyr) NC_000008.11:89980800:A:T p.(Phe56Tyr) NC_000008.11:89980800:A:T Identity +NM_001128844.3:c.4157A>G NP_001122316.1:p.Lys1386Arg NC_000019.10:11035118:A:G p.(Lys1386Arg) NC_000019.10:11035118:A:G p.(Lys1386Arg) NC_000019.10:11035118:A:G Identity +NM_006231.4:c.3975C>G NP_006222.2:p.Ser1325Arg NC_000012.12:132649335:G:C p.(Ser1325Arg) NC_000012.12:132649335:G:C p.(Ser1325Arg) NC_000012.12:132649335:G:C Identity +NM_001369.3:c.11611_11612del NP_001360.1:p.Ile3871fs NC_000005.10:13735279:ATAT:AT p.(Ile3871HisfsTer10) NC_000005.10:13735279:ATAT:AT p.(Ile3871HisfsTer10) NC_000005.10:13735279:AT: Analogous +NM_001195573.1:c.3695G>T NP_001182502.1:p.Ser1232Ile NC_000014.9:95103700:C:A p.(Ser1232Ile) NC_000014.9:95103700:C:A p.(Ser1232Ile) NC_000014.9:95103700:C:A Identity +NM_001430.5:c.1150G>C NP_001421.2:p.Glu384Gln NC_000002.12:46376653:G:C p.(Glu384Gln) NC_000002.12:46376653:G:C p.(Glu384Gln) NC_000002.12:46376653:G:C Identity +NM_199420.4:c.1151A>T NP_955452.3:p.Gln384Leu NC_000003.12:121522106:T:A p.(Gln384Leu) NC_000003.12:121522106:T:A p.(Gln384Leu) NC_000003.12:121522106:T:A Identity +NM_001195573.1:c.3703T>G NP_001182502.1:p.Cys1235Gly NC_000014.9:95103692:A:C p.(Cys1235Gly) NC_000014.9:95103692:A:C p.(Cys1235Gly) NC_000014.9:95103692:A:C Identity +NM_000118.4:c.1151T>G NP_000109.1:p.Ile384Ser NC_000009.12:127820020:A:C p.(Ile384Ser) NC_000009.12:127820020:A:C p.(Ile384Ser) NC_000009.12:127820020:A:C Identity +NM_001082486.2:c.115G>A NP_001075955.2:p.Glu39Lys NC_000016.10:67660029:C:T p.(Glu39Lys) NC_000016.10:67660029:C:T p.(Glu39Lys) NC_000016.10:67660029:C:T Identity +NM_001211.6:c.1154A>G NP_001202.5:p.His385Arg NC_000015.10:40196639:A:G p.(His385Arg) NC_000015.10:40196639:A:G p.(His385Arg) NC_000015.10:40196639:A:G Identity +NM_001130144.3:c.3788A>C NP_001123616.1:p.Gln1263Pro NC_000011.10:65539203:T:G p.(Gln1263Pro) NC_000011.10:65539203:T:G p.(Gln1263Pro) NC_000011.10:65539203:T:G Identity +NM_001105206.3:c.3824A>G NP_001098676.2:p.Tyr1275Cys NC_000006.12:112132762:T:C p.(Tyr1275Cys) NC_000006.12:112132762:T:C p.(Tyr1275Cys) NC_000006.12:112132762:T:C Identity +NM_001256849.1:c.1155C>G NP_001243778.1:p.Ile385Met NC_000019.10:50403509:C:G p.(Ile385Met) NC_000019.10:50403509:C:G p.(Ile385Met) NC_000019.10:50403509:C:G Identity +NM_001142548.2:c.380G>A NP_001136020.1:p.Ser127Asn NC_000001.11:46260071:G:A p.(Ser127Asn) NC_000001.11:46260071:G:A p.(Ser127Asn) NC_000001.11:46260071:G:A Identity +NM_052947.4:c.3826C>G NP_443179.3:p.Pro1276Ala NC_000018.10:58536360:G:C p.(Pro1276Ala) NC_000018.10:58536360:G:C p.(Pro1276Ala) NC_000018.10:58536360:G:C Identity +NM_017617.5:c.1156A>G NP_060087.3:p.Asn386Asp NC_000009.12:136518235:T:C p.(Asn386Asp) NC_000009.12:136518235:T:C p.(Asn386Asp) NC_000009.12:136518235:T:C Identity +NM_001172309.2:c.207G>A NP_001165780.1:p.Met69Ile NC_000001.11:77918224:G:A p.(Met69Ile) NC_000001.11:77918224:G:A p.(Met69Ile) NC_000001.11:77918224:G:A Identity +NM_198578.4:c.4215T>A NP_940980.4:p.His1405Gln NC_000012.12:40309130:T:A p.(His1405Gln) NC_000012.12:40309130:T:A p.(His1405Gln) NC_000012.12:40309130:T:A Identity +NM_001353068.2:c.301G>A NP_001339997.1:p.Gly101Ser NC_000009.12:121302981:G:A p.(Gly101Ser) NC_000009.12:121302981:G:A p.(Gly101Ser) NC_000009.12:121302981:G:A Identity +NM_198578.4:c.4220A>G NP_940980.4:p.His1407Arg NC_000012.12:40309135:A:G p.(His1407Arg) NC_000012.12:40309135:A:G p.(His1407Arg) NC_000012.12:40309135:A:G Identity +NM_001321307.1:c.4247C>T NP_001308236.1:p.Ser1416Leu NC_000011.10:108158999:G:A p.(Ser1416Leu) NC_000011.10:108158999:G:A p.(Ser1416Leu) NC_000011.10:108158999:G:A Identity +NM_001410772.1:c.422delA NP_001397701.1:p.His141Leufs NC_000003.12:52407413:T: p.(His141LeufsTer46) NC_000003.12:52407413:T: p.(His141LeufsTer46) NC_000003.12:52407413:T: Analogous +NM_002432.3:c.415C>A NP_002423.1:p.Pro139Thr NC_000001.11:158843966:C:A p.(Pro139Thr) NC_000001.11:158843966:C:A p.(Pro139Thr) NC_000001.11:158843966:C:A Identity +NM_001042594.2:c.22T>G NP_001036059.1:p.Trp8Gly NC_000007.14:124863480:A:C p.(Trp8Gly) NC_000007.14:124863480:A:C p.(Trp8Gly) NC_000007.14:124863480:A:C Identity +NM_001195573.1:c.4174A>T NP_001182502.1:p.Ser1392Cys NC_000014.9:95099811:T:A p.(Ser1392Cys) NC_000014.9:95099811:T:A p.(Ser1392Cys) NC_000014.9:95099811:T:A Identity +NM_005502.4:c.4187C>T NP_005493.2:p.Pro1396Leu NC_000009.12:104809552:G:A p.(Pro1396Leu) NC_000009.12:104809552:G:A p.(Pro1396Leu) NC_000009.12:104809552:G:A Identity +LRG_20t1:c.4187T>G LRG_20p1:p.Leu1396Trp NC_000015.10:90815211:T:G ERR:Data provider error: ValueError: Transcript LRG_20t1 not found ERR:Data provider error: ValueError: Transcript LRG_20t1 not found ERR:AlignmentMapper(tx_ac=LRG_20t1, alt_ac=LRG_20t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_20t1, alt_ac=LRG_20t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_20t1 not found +NM_001351527.2:c.4193G>T NP_001338456.1:p.Cys1398Phe NC_000009.12:132327404:C:A p.(Cys1398Phe) NC_000009.12:132327404:C:A p.(Cys1398Phe) NC_000009.12:132327404:C:A Identity +NM_000059.4:c.4199A>G NP_000050.3:p.His1400Arg NC_000013.11:32338553:A:G p.(His1400Arg) NC_000013.11:32338553:A:G p.(His1400Arg) NC_000013.11:32338553:A:G Identity +NM_001407623.1:c.419G>C NP_001394552.1:p.Ser140Thr NC_000017.11:43104143:C:G p.(Ser140Thr) NC_000017.11:43104143:C:G p.(Ser140Thr) NC_000017.11:43104143:C:G Identity +NM_000251.3:c.1156G>T NP_000242.1:p.Asp386Tyr NC_000002.12:47429820:G:T p.(Asp386Tyr) NC_000002.12:47429820:G:T p.(Asp386Tyr) NC_000002.12:47429820:G:T Identity +NM_000264.5:c.3853C>T NP_000255.2:p.Gln1285Ter NC_000009.12:95447402:G:A p.(Gln1285Ter) NC_000009.12:95447402:G:A p.(Gln1285Ter) NC_000009.12:95447402:G:A Identity +NM_001194937.2:c.3860T>C NP_001181866.1:p.Val1287Ala NC_000001.11:151405147:A:G p.(Val1287Ala) NC_000001.11:151405147:A:G p.(Val1287Ala) NC_000001.11:151405147:A:G Identity +NM_001142571.2:c.448C>G NP_001136043.1:p.Gln150Glu NC_000017.11:35107079:G:C p.(Gln150Glu) NC_000017.11:35107079:G:C p.(Gln150Glu) NC_000017.11:35107079:G:C Identity +NM_001374782.1:c.38A>G NP_001361711.1:p.Glu13Gly NC_000010.11:51074627:A:G p.(Glu13Gly) NC_000010.11:51074627:A:G p.(Glu13Gly) NC_000010.11:51074627:A:G Identity +NM_001363813.1:c.1162C>G NP_001350742.1:p.Arg388Gly NC_000017.11:65538240:G:C p.(Arg388Gly) NC_000017.11:65538240:G:C p.(Arg388Gly) NC_000017.11:65538240:G:C Identity +NM_001042594.2:c.10G>A NP_001036059.1:p.Ala4Thr NC_000007.14:124863492:C:T p.(Ala4Thr) NC_000007.14:124863492:C:T p.(Ala4Thr) NC_000007.14:124863492:C:T Identity +NM_001035512.3:c.302T>C NP_001030589.1:p.Leu101Ser NC_000001.11:161356838:T:C p.(Leu101Ser) NC_000001.11:161356838:T:C p.(Leu101Ser) NC_000001.11:161356838:T:C Identity +NM_000179.3:c.4056A>T NP_000170.1:p.Lys1352Asn NC_000002.12:47806832:A:T p.(Lys1352Asn) NC_000002.12:47806832:A:T p.(Lys1352Asn) NC_000002.12:47806832:A:T Identity +NM_052947.4:c.3991C>T NP_443179.3:p.Arg1331Trp NC_000018.10:58536195:G:A p.(Arg1331Trp) NC_000018.10:58536195:G:A p.(Arg1331Trp) NC_000018.10:58536195:G:A Identity +NM_001406817.1:c.402delT NP_001393746.1:p.Phe134Leufs NC_000002.12:47791062:TTTTTT:TTTTT p.(Phe134LeufsTer15) NC_000002.12:47791062:TTTTTT:TTTTT p.(Phe134LeufsTer15) NC_000002.12:47791067:T: Analogous +NM_199420.4:c.4036G>A NP_955452.3:p.Asp1346Asn NC_000003.12:121488894:C:T p.(Asp1346Asn) NC_000003.12:121488894:C:T p.(Asp1346Asn) NC_000003.12:121488894:C:T Identity +NM_052947.4:c.4294G>A NP_443179.3:p.Glu1432Lys NC_000018.10:58535892:C:T p.(Glu1432Lys) NC_000018.10:58535892:C:T p.(Glu1432Lys) NC_000018.10:58535892:C:T Identity +NM_001347827.2:c.432T>G NP_001334756.1:p.Asp144Glu NC_000004.12:54263730:T:G p.(Asp144Glu) NC_000004.12:54263730:T:G p.(Asp144Glu) NC_000004.12:54263730:T:G Identity +NM_001430.5:c.1164C>G NP_001421.2:p.Phe388Leu NC_000002.12:46376667:C:G p.(Phe388Leu) NC_000002.12:46376667:C:G p.(Phe388Leu) NC_000002.12:46376667:C:G Identity +NM_000249.4:c.41_42insG NP_000240.1:p.Val15fs NC_000003.12:36993588::G p.(Val15SerfsTer16) NC_000003.12:36993587:C:G p.(Val15SerfsTer16) NC_000003.12:36993588:CA:G Analogous +NM_000314.8:c.44_56del NP_000305.3:p.Arg15fs NC_000010.11:87864508:AGGAGATATCAAGAGGA:AGGA p.(Arg15MetfsTer5) NC_000010.11:87864508:AGGAGATATCAAGAGGA:AGGA p.(Arg15MetfsTer5) NC_000010.11:87864512:GATATCAAGAGGA: Analogous +NM_001256850.1:c.66530T>C NP_001243779.1:p.Ile22177Thr NC_000002.12:178574678:A:G p.(Ile22177Thr) NC_000002.12:178574678:A:G p.(Ile22177Thr) NC_000002.12:178574678:A:G Identity +NM_052947.4:c.4214C>T NP_443179.3:p.Pro1405Leu NC_000018.10:58535972:G:A p.(Pro1405Leu) NC_000018.10:58535972:G:A p.(Pro1405Leu) NC_000018.10:58535972:G:A Identity +NM_199420.4:c.4225A>G NP_955452.3:p.Ile1409Val NC_000003.12:121488705:T:C p.(Ile1409Val) NC_000003.12:121488705:T:C p.(Ile1409Val) NC_000003.12:121488705:T:C Identity +NM_000264.5:c.4241T>C NP_000255.2:p.Val1414Ala NC_000009.12:95447014:A:G p.(Val1414Ala) NC_000009.12:95447014:A:G p.(Val1414Ala) NC_000009.12:95447014:A:G Identity +NM_000492.4:c.4433C>A NP_000483.3:p.Thr1478Lys NC_000007.14:117667097:C:A p.(Thr1478Lys) NC_000007.14:117667097:C:A p.(Thr1478Lys) NC_000007.14:117667097:C:A Identity +NM_001148.6:c.4436C>A NP_001139.3:p.Thr1479Lys NC_000004.12:113353053:C:A p.(Thr1479Lys) NC_000004.12:113353053:C:A p.(Thr1479Lys) NC_000004.12:113353053:C:A Identity +NM_001365951.3:c.4577T>C NP_001352880.1:p.Leu1526Pro NC_000001.11:10365472:T:C p.(Leu1526Pro) NC_000001.11:10365472:T:C p.(Leu1526Pro) NC_000001.11:10365472:T:C Identity +NM_001081640.2:c.4454C>T NP_001075109.1:p.Ser1485Phe NC_000008.11:47887664:G:A p.(Ser1485Phe) NC_000008.11:47887664:G:A p.(Ser1485Phe) NC_000008.11:47887664:G:A Identity +NM_001353765.2:c.1253C>T NP_001340694.1:p.Pro418Leu NC_000002.12:29193629:G:A p.(Pro418Leu) NC_000002.12:29193629:G:A p.(Pro418Leu) NC_000002.12:29193629:G:A Identity +NM_000057.4:c.446G>A NP_000048.1:p.Ser149Asn NC_000015.10:90749713:G:A p.(Ser149Asn) NC_000015.10:90749713:G:A p.(Ser149Asn) NC_000015.10:90749713:G:A Identity +NM_199420.4:c.4484G>A NP_955452.3:p.Ser1495Asn NC_000003.12:121488446:C:T p.(Ser1495Asn) NC_000003.12:121488446:C:T p.(Ser1495Asn) NC_000003.12:121488446:C:T Identity +NM_001160227.2:c.40G>A NP_001153699.1:p.Gly14Ser NC_000015.10:44663607:C:T p.(Gly14Ser) NC_000015.10:44663607:C:T p.(Gly14Ser) NC_000015.10:44663607:C:T Identity +NM_000492.4:c.4110T>A NP_000483.3:p.Asp1370Glu NC_000007.14:117664833:T:A p.(Asp1370Glu) NC_000007.14:117664833:T:A p.(Asp1370Glu) NC_000007.14:117664833:T:A Identity +NM_001127487.2:c.4129G>C NP_001120959.1:p.Gly1377Arg NC_000007.14:128846745:G:C p.(Gly1377Arg) NC_000007.14:128846745:G:C p.(Gly1377Arg) NC_000007.14:128846745:G:C Identity +NM_000059.4:c.4135C>A NP_000050.3:p.Gln1379Lys NC_000013.11:32338489:C:A p.(Gln1379Lys) NC_000013.11:32338489:C:A p.(Gln1379Lys) NC_000013.11:32338489:C:A Identity +NM_001282403.2:c.413G>A NP_001269332.1:p.Cys138Tyr NC_000007.14:76058061:G:A p.(Cys138Tyr) NC_000007.14:76058061:G:A p.(Cys138Tyr) NC_000007.14:76058061:G:A Identity +NM_001037.5:c.424A>G NP_001028.1:p.Ile142Val NC_000019.10:35033714:A:G p.(Ile142Val) NC_000019.10:35033714:A:G p.(Ile142Val) NC_000019.10:35033714:A:G Identity +NM_001127487.2:c.4250A>G NP_001120959.1:p.Tyr1417Cys NC_000007.14:128846866:A:G p.(Tyr1417Cys) NC_000007.14:128846866:A:G p.(Tyr1417Cys) NC_000007.14:128846866:A:G Identity +NM_000264.5:c.4258T>G NP_000255.2:p.Cys1420Gly NC_000009.12:95446997:A:C p.(Cys1420Gly) NC_000009.12:95446997:A:C p.(Cys1420Gly) NC_000009.12:95446997:A:C Identity +NM_001135599.4:c.534_535del NP_001129071.1:p.Arg178fs NC_000001.11:218405269:AGAG:AG p.(Arg178SerfsTer13) NC_000001.11:218405269:AGAG:AG p.(Arg178SerfsTer13) NC_000001.11:218405271:AG: Analogous +NM_001040108.2:c.4175A>G NP_001035197.1:p.Gln1392Arg NC_000014.9:75018895:T:C p.(Gln1392Arg) NC_000014.9:75018895:T:C p.(Gln1392Arg) NC_000014.9:75018895:T:C Identity +NM_001040108.2:c.41G>C NP_001035197.1:p.Arg14Pro NC_000014.9:75049614:C:G p.(Arg14Pro) NC_000014.9:75049614:C:G p.(Arg14Pro) NC_000014.9:75049614:C:G Identity +NM_001170634.1:c.451C>T NP_001164105.1:p.Pro151Ser NC_000016.10:31184326:C:T p.(Pro151Ser) NC_000016.10:31184326:C:T p.(Pro151Ser) NC_000016.10:31184326:C:T Identity +NM_198578.4:c.4564C>G NP_940980.4:p.Leu1522Val NC_000012.12:40313998:C:G p.(Leu1522Val) NC_000012.12:40313998:C:G p.(Leu1522Val) NC_000012.12:40313998:C:G Identity +NM_001378120.1:c.4819G>T NP_001365049.1:p.Glu1607Ter NC_000002.12:148490450:G:T p.(Glu1607Ter) NC_000002.12:148490450:G:T p.(Glu1607Ter) NC_000002.12:148490450:G:T Identity +NM_001321307.1:c.4168C>T NP_001308236.1:p.Arg1390Cys NC_000011.10:108160938:G:A p.(Arg1390Cys) NC_000011.10:108160938:G:A p.(Arg1390Cys) NC_000011.10:108160938:G:A Identity +NM_001079846.1:c.4126G>A NP_001073315.1:p.Val1376Ile NC_000016.10:3739617:C:T p.(Val1376Ile) NC_000016.10:3739617:C:T p.(Val1376Ile) NC_000016.10:3739617:C:T Identity +NM_001365951.3:c.4400C>T NP_001352880.1:p.Thr1467Met NC_000001.11:10365132:C:T p.(Thr1467Met) NC_000001.11:10365132:C:T p.(Thr1467Met) NC_000001.11:10365132:C:T Identity +NM_199420.4:c.4288T>G NP_955452.3:p.Leu1430Val NC_000003.12:121488642:A:C p.(Leu1430Val) NC_000003.12:121488642:A:C p.(Leu1430Val) NC_000003.12:121488642:A:C Identity +NM_000251.3:c.430T>C NP_000242.1:p.Ser144Pro NC_000002.12:47410156:T:C p.(Ser144Pro) NC_000002.12:47410156:T:C p.(Ser144Pro) NC_000002.12:47410156:T:C Identity +NM_198578.4:c.4647C>A NP_940980.4:p.Asp1549Glu NC_000012.12:40314081:C:A p.(Asp1549Glu) NC_000012.12:40314081:C:A p.(Asp1549Glu) NC_000012.12:40314081:C:A Identity +NM_004415.4:c.4648A>T NP_004406.2:p.Thr1550Ser NC_000006.12:7580837:A:T p.(Thr1550Ser) NC_000006.12:7580837:A:T p.(Thr1550Ser) NC_000006.12:7580837:A:T Identity +NM_001144769.5:c.4664A>G NP_001138241.1:p.Asp1555Gly NC_000006.12:56625223:T:C p.(Asp1555Gly) NC_000006.12:56625223:T:C p.(Asp1555Gly) NC_000006.12:56625223:T:C Identity +NM_000548.5:c.1172T>A NP_000539.2:p.Val391Glu NC_000016.10:2061922:T:A p.(Val391Glu) NC_000016.10:2061922:T:A p.(Val391Glu) NC_000016.10:2061922:T:A Identity +NM_001042594.2:c.779T>C NP_001036059.1:p.Val260Ala NC_000007.14:124841169:A:G p.(Val260Ala) NC_000007.14:124841169:A:G p.(Val260Ala) NC_000007.14:124841169:A:G Identity +NM_001377273.1:c.4357C>T NP_001364202.1:p.Gln1453Ter NC_000012.12:21807437:G:A p.(Gln1453Ter) NC_000012.12:21807437:G:A p.(Gln1453Ter) NC_000012.12:21807437:G:A Identity +NM_001365276.2:c.4363G>A NP_001352205.1:p.Val1455Met NC_000006.12:32079044:C:T p.(Val1455Met) NC_000006.12:32079044:C:T p.(Val1455Met) NC_000006.12:32079044:C:T Identity +NM_006231.4:c.4694G>A NP_006222.2:p.Cys1565Tyr NC_000012.12:132642853:C:T p.(Cys1565Tyr) NC_000012.12:132642853:C:T p.(Cys1565Tyr) NC_000012.12:132642853:C:T Identity +NM_198578.4:c.4328C>T NP_940980.4:p.Ser1443Phe NC_000012.12:40310440:C:T p.(Ser1443Phe) NC_000012.12:40310440:C:T p.(Ser1443Phe) NC_000012.12:40310440:C:T Identity +NM_001184.4:c.4337T>G NP_001175.2:p.Phe1446Cys NC_000003.12:142519713:A:C p.(Phe1446Cys) NC_000003.12:142519713:A:C p.(Phe1446Cys) NC_000003.12:142519713:A:C Identity +NM_000548.5:c.4346C>G NP_000539.2:p.Ser1449Cys NC_000016.10:2084567:C:G p.(Ser1449Cys) NC_000016.10:2084567:C:G p.(Ser1449Cys) NC_000016.10:2084567:C:G Identity +NM_001302959.2:c.257C>T NP_001289888.1:p.Pro86Leu NC_000011.10:67489420:C:T p.(Pro86Leu) NC_000011.10:67489420:C:T p.(Pro86Leu) NC_000011.10:67489420:C:T Identity +NM_000057.4:c.437A>G NP_000048.1:p.Asp146Gly NC_000015.10:90749704:A:G p.(Asp146Gly) NC_000015.10:90749704:A:G p.(Asp146Gly) NC_000015.10:90749704:A:G Identity +NM_005502.4:c.4381C>T NP_005493.2:p.Pro1461Ser NC_000009.12:104806323:G:A p.(Pro1461Ser) NC_000009.12:104806323:G:A p.(Pro1461Ser) NC_000009.12:104806323:G:A Identity +NM_002439.5:c.1183C>T NP_002430.3:p.Pro395Ser NC_000005.10:80678935:C:T p.(Pro395Ser) NC_000005.10:80678935:C:T p.(Pro395Ser) NC_000005.10:80678935:C:T Identity +NM_030793.5:c.475A>G NP_110420.3:p.Met159Val NC_000005.10:148402395:A:G p.(Met159Val) NC_000005.10:148402395:A:G p.(Met159Val) NC_000005.10:148402395:A:G Identity +NM_000258.3:c.475A>T NP_000249.1:p.Thr159Ser NC_000003.12:46859480:T:A p.(Thr159Ser) NC_000003.12:46859480:T:A p.(Thr159Ser) NC_000003.12:46859480:T:A Identity +NM_000455.5:c.479_489del NP_000446.1:p.Leu160fs NC_000019.10:1220384:GCTGATTGACGGC:GC p.(Leu160ProfsTer6) NC_000019.10:1220384:GCTGATTGACGGC:GC p.(Leu160ProfsTer6) NC_000019.10:1220386:TGATTGACGGC: Analogous +NM_001178133.2:c.493A>G NP_001171604.1:p.Ser165Gly NC_000010.11:102592619:A:G p.(Ser165Gly) NC_000010.11:102592619:A:G p.(Ser165Gly) NC_000010.11:102592619:A:G Identity +NM_001282403.2:c.118C>G NP_001269332.1:p.Leu40Val NC_000007.14:76054880:C:G p.(Leu40Val) NC_000007.14:76054880:C:G p.(Leu40Val) NC_000007.14:76054880:C:G Identity +NM_001172309.2:c.822G>C NP_001165780.1:p.Glu274Asp NC_000001.11:77929464:G:C p.(Glu274Asp) NC_000001.11:77929464:G:C p.(Glu274Asp) NC_000001.11:77929464:G:C Identity +NM_001105206.3:c.1197C>A NP_001098676.2:p.Asn399Lys NC_000006.12:112175472:G:T p.(Asn399Lys) NC_000006.12:112175472:G:T p.(Asn399Lys) NC_000006.12:112175472:G:T Identity +NM_001166110.2:c.49T>G NP_001159582.1:p.Ser17Ala NC_000004.12:168877939:T:G p.(Ser17Ala) NC_000004.12:168877939:T:G p.(Ser17Ala) NC_000004.12:168877939:T:G Identity +NM_052947.4:c.4415A>G NP_443179.3:p.Glu1472Gly NC_000018.10:58535771:T:C p.(Glu1472Gly) NC_000018.10:58535771:T:C p.(Glu1472Gly) NC_000018.10:58535771:T:C Identity +NM_000400.4:c.443A>G NP_000391.1:p.His148Arg NC_000019.10:45365075:T:C p.(His148Arg) NC_000019.10:45365075:T:C p.(His148Arg) NC_000019.10:45365075:T:C Identity +NM_052947.4:c.4441C>A NP_443179.3:p.Gln1481Lys NC_000018.10:58535745:G:T p.(Gln1481Lys) NC_000018.10:58535745:G:T p.(Gln1481Lys) NC_000018.10:58535745:G:T Identity +NM_000162.5:c.445dup NP_000153.1:p.Thr149fs NC_000007.14:44150993:T:TT p.(Thr149AsnfsTer13) NC_000007.14:44150993:T:TT p.(Thr149AsnfsTer13) ERR:SPDI Analogous +NM_001407626.1:c.446A>G NP_001394555.1:p.Glu149Gly NC_000017.11:43099875:T:C p.(Glu149Gly) NC_000017.11:43099875:T:C p.(Glu149Gly) NC_000017.11:43099875:T:C Identity +NM_001365951.3:c.5180G>A NP_001352880.1:p.Arg1727Gln NC_000001.11:10374936:G:A p.(Arg1727Gln) NC_000001.11:10374936:G:A p.(Arg1727Gln) NC_000001.11:10374936:G:A Identity +NM_000051.4:c.5063T>A NP_000042.3:p.Ile1688Lys NC_000011.10:108299770:T:A p.(Ile1688Lys) NC_000011.10:108299770:T:A p.(Ile1688Lys) NC_000011.10:108299770:T:A Identity +NM_001282386.1:c.448G>A NP_001269315.1:p.Gly150Arg NC_000002.12:208245390:C:T p.(Gly150Arg) NC_000002.12:208245390:C:T p.(Gly150Arg) NC_000002.12:208245390:C:T Identity +NM_198578.4:c.4492G>A NP_940980.4:p.Ala1498Thr NC_000012.12:40310604:G:A p.(Ala1498Thr) NC_000012.12:40310604:G:A p.(Ala1498Thr) NC_000012.12:40310604:G:A Identity +NM_002769.5:c.44C>T NP_002760.1:p.Ala15Val NC_000007.14:142750557:C:T p.(Ala15Val) NC_000007.14:142750557:C:T p.(Ala15Val) NC_000007.14:142750557:C:T Identity +NM_022436.3:c.452C>G NP_071881.1:p.Thr151Ser NC_000002.12:43831817:G:C p.(Thr151Ser) NC_000002.12:43831817:G:C p.(Thr151Ser) NC_000002.12:43831817:G:C Identity +NM_199420.4:c.4534C>A NP_955452.3:p.Pro1512Thr NC_000003.12:121488396:G:T p.(Pro1512Thr) NC_000003.12:121488396:G:T p.(Pro1512Thr) NC_000003.12:121488396:G:T Identity +NM_198578.4:c.4186G>T NP_940980.4:p.Ala1396Ser NC_000012.12:40308692:G:T p.(Ala1396Ser) NC_000012.12:40308692:G:T p.(Ala1396Ser) NC_000012.12:40308692:G:T Identity +NM_001352773.2:c.457G>A NP_001339702.1:p.Asp153Asn NC_000017.11:41769428:C:T p.(Asp153Asn) NC_000017.11:41769428:C:T p.(Asp153Asn) NC_000017.11:41769428:C:T Identity +NM_199420.4:c.4622A>G NP_955452.3:p.Asn1541Ser NC_000003.12:121488308:T:C p.(Asn1541Ser) NC_000003.12:121488308:T:C p.(Asn1541Ser) NC_000003.12:121488308:T:C Identity +NM_001386161.1:c.5479del NP_001373090.1:p.Asp1827fs NC_000004.12:113373386:GGGG:GGG p.(Asp1827MetfsTer7) NC_000004.12:113373386:GGGG:GGG p.(Asp1827MetfsTer7) NC_000004.12:113373389:G: Analogous +NM_001320415.2:c.230C>G NP_001307344.1:p.Ser77Cys NC_000014.9:65076539:G:C p.(Ser77Cys) NC_000014.9:65076539:G:C p.(Ser77Cys) NC_000014.9:65076539:G:C Identity +NM_199420.4:c.4219G>A NP_955452.3:p.Val1407Ile NC_000003.12:121488711:C:T p.(Val1407Ile) NC_000003.12:121488711:C:T p.(Val1407Ile) NC_000003.12:121488711:C:T Identity +NM_001128849.3:c.4231C>G NP_001122321.1:p.Gln1411Glu NC_000019.10:11039517:C:G p.(Gln1411Glu) NC_000019.10:11039517:C:G p.(Gln1411Glu) NC_000019.10:11039517:C:G Identity +NM_001349253.2:c.4654G>A NP_001336182.1:p.Gly1552Ser NC_000003.12:38847415:C:T p.(Gly1552Ser) NC_000003.12:38847415:C:T p.(Gly1552Ser) NC_000003.12:38847415:C:T Identity +NM_005502.4:c.4675A>C NP_005493.2:p.Lys1559Gln NC_000009.12:104802076:T:G p.(Lys1559Gln) NC_000009.12:104802076:T:G p.(Lys1559Gln) NC_000009.12:104802076:T:G Identity +NM_000535.7:c.423del NP_000526.2:p.Ile143fs NC_000007.14:6002566:CCC:CC p.(Ile143LeufsTer58) NC_000007.14:6002566:CCC:CC p.(Ile143LeufsTer58) NC_000007.14:6002566:C: Analogous +NM_002907.4:c.425C>G NP_002898.2:p.Ser142Cys NC_000012.12:21486554:G:C p.(Ser142Cys) NC_000012.12:21486554:G:C p.(Ser142Cys) NC_000012.12:21486554:G:C Identity +NM_001365276.2:c.4262A>G NP_001352205.1:p.Lys1421Arg NC_000006.12:32079145:T:C p.(Lys1421Arg) NC_000006.12:32079145:T:C p.(Lys1421Arg) NC_000006.12:32079145:T:C Identity +NM_000038.6:c.4263del NP_000029.2:p.Ser1421fs NC_000005.10:112839856:T: p.(Ser1421ArgfsTer52) NC_000005.10:112839856:T: p.(Ser1421ArgfsTer52) NC_000005.10:112839856:T: Analogous +NM_001211.6:c.427C>T NP_001202.5:p.His143Tyr NC_000015.10:40176518:C:T p.(His143Tyr) NC_000015.10:40176518:C:T p.(His143Tyr) NC_000015.10:40176518:C:T Identity +NM_000492.4:c.4292T>G NP_000483.3:p.Leu1431Arg NC_000007.14:117666956:T:G p.(Leu1431Arg) NC_000007.14:117666956:T:G p.(Leu1431Arg) NC_000007.14:117666956:T:G Identity +NM_001005242.3:c.429T>A NP_001005242.2:p.His143Gln NC_000012.12:32878450:A:T p.(His143Gln) NC_000012.12:32878450:A:T p.(His143Gln) NC_000012.12:32878450:A:T Identity +NM_001352019.2:c.103G>A NP_001338948.1:p.Gly35Ser NC_000016.10:954429:C:T p.(Gly35Ser) NC_000016.10:954429:C:T p.(Gly35Ser) NC_000016.10:954429:C:T Identity +NM_001365951.3:c.4489G>A NP_001352880.1:p.Glu1497Lys NC_000001.11:10365221:G:A p.(Glu1497Lys) NC_000001.11:10365221:G:A p.(Glu1497Lys) NC_000001.11:10365221:G:A Identity +NM_005502.4:c.4471C>G NP_005493.2:p.Gln1491Glu NC_000009.12:104804713:G:C p.(Gln1491Glu) NC_000009.12:104804713:G:C p.(Gln1491Glu) NC_000009.12:104804713:G:C Identity +NM_001353765.2:c.1271T>C NP_001340694.1:p.Val424Ala NC_000002.12:29193611:A:G p.(Val424Ala) NC_000002.12:29193611:A:G p.(Val424Ala) NC_000002.12:29193611:A:G Identity +NM_001081640.2:c.11694G>A NP_001075109.1:p.Met3898Ile NC_000008.11:47778524:C:T p.(Met3898Ile) NC_000008.11:47778524:C:T p.(Met3898Ile) NC_000008.11:47778524:C:T Identity +NM_006218.4:c.451G>C NP_006209.2:p.Val151Leu NC_000003.12:179199787:G:C p.(Val151Leu) NC_000003.12:179199787:G:C p.(Val151Leu) NC_000003.12:179199787:G:C Identity +NM_001430.5:c.452A>G NP_001421.2:p.Asn151Ser NC_000002.12:46356805:A:G p.(Asn151Ser) NC_000002.12:46356805:A:G p.(Asn151Ser) NC_000002.12:46356805:A:G Identity +NM_002439.5:c.1178T>C NP_002430.3:p.Val393Ala NC_000005.10:80678930:T:C p.(Val393Ala) NC_000005.10:80678930:T:C p.(Val393Ala) NC_000005.10:80678930:T:C Identity +NM_001290307.3:c.469G>A NP_001277236.1:p.Val157Met NC_000005.10:138812182:G:A p.(Val157Met) NC_000005.10:138812182:G:A p.(Val157Met) NC_000005.10:138812182:G:A Identity +NM_052947.4:c.46T>C NP_443179.3:p.Ser16Pro NC_000018.10:58611751:A:G p.(Ser16Pro) NC_000018.10:58611751:A:G p.(Ser16Pro) NC_000018.10:58611751:A:G Identity +NM_000038.6:c.4364_4368del NP_000029.2:p.Asn1455fs NC_000005.10:112839954:AAAATAAA:AAA p.(Asn1455SerfsTer5) NC_000005.10:112839954:AAAATAAA:AAA p.(Asn1455SerfsTer5) NC_000005.10:112839957:ATAAA: Analogous +NM_001363813.1:c.436T>A NP_001350742.1:p.Ser146Thr NC_000017.11:65558184:A:T p.(Ser146Thr) NC_000017.11:65558184:A:T p.(Ser146Thr) NC_000017.11:65558184:A:T Identity +NM_002471.4:c.4374G>A NP_002462.2:p.Trp1458Ter NC_000014.9:23387908:C:T p.(Trp1458Ter) NC_000014.9:23387908:C:T p.(Trp1458Ter) NC_000014.9:23387908:C:T Identity +NM_002471.4:c.4768C>T NP_002462.2:p.Arg1590Cys NC_000014.9:23386505:G:A p.(Arg1590Cys) NC_000014.9:23386505:G:A p.(Arg1590Cys) NC_000014.9:23386505:G:A Identity +NM_000535.7:c.440C>G NP_000526.2:p.Thr147Ser NC_000007.14:6002549:G:C p.(Thr147Ser) NC_000007.14:6002549:G:C p.(Thr147Ser) NC_000007.14:6002549:G:C Identity +NM_000051.4:c.4796C>T NP_000042.3:p.Ser1599Leu NC_000011.10:108294945:C:T p.(Ser1599Leu) NC_000011.10:108294945:C:T p.(Ser1599Leu) NC_000011.10:108294945:C:T Identity +NM_001244008.2:c.4807C>G NP_001230937.1:p.Leu1603Val NC_000002.12:240720974:G:C p.(Leu1603Val) NC_000002.12:240720974:G:C p.(Leu1603Val) NC_000002.12:240720974:G:C Identity +NM_001184.4:c.4487G>T NP_001175.2:p.Gly1496Val NC_000003.12:142515410:C:A p.(Gly1496Val) NC_000003.12:142515410:C:A p.(Gly1496Val) NC_000003.12:142515410:C:A Identity +NM_001367624.2:c.448G>A NP_001354553.1:p.Val150Met NC_000016.10:88427917:G:A p.(Val150Met) NC_000016.10:88427917:G:A p.(Val150Met) NC_000016.10:88427917:G:A Identity +NM_001184.4:c.4495A>G NP_001175.2:p.Ile1499Val NC_000003.12:142515402:T:C p.(Ile1499Val) NC_000003.12:142515402:T:C p.(Ile1499Val) NC_000003.12:142515402:T:C Identity +NM_199420.4:c.4843G>A NP_955452.3:p.Ala1615Thr NC_000003.12:121488087:C:T p.(Ala1615Thr) NC_000003.12:121488087:C:T p.(Ala1615Thr) NC_000003.12:121488087:C:T Identity +NM_024642.5:c.1186T>G NP_078918.3:p.Tyr396Asp NC_000009.12:98837121:T:G p.(Tyr396Asp) NC_000009.12:98837121:T:G p.(Tyr396Asp) NC_000009.12:98837121:T:G Identity +NM_004006.3:c.4870C>G NP_003997.2:p.Gln1624Glu NC_000023.11:32365174:G:C p.(Gln1624Glu) NC_000023.11:32365174:G:C p.(Gln1624Glu) NC_000023.11:32365174:G:C Identity +NM_001191322.2:c.239C>T NP_001178251.1:p.Thr80Ile NC_000015.10:32731138:C:T p.(Thr80Ile) NC_000015.10:32731138:C:T p.(Thr80Ile) NC_000015.10:32731138:C:T Identity +NM_001040113.2:c.4532G>T NP_001035202.1:p.Arg1511Leu NC_000016.10:15721488:C:A p.(Arg1511Leu) NC_000016.10:15721488:C:A p.(Arg1511Leu) NC_000016.10:15721488:C:A Identity +NM_001318194.2:c.98dup NP_001305123.1:p.Met33fs NC_000016.10:2044726:A:AA p.(Met33IlefsTer19) NC_000016.10:2044726:A:AA p.(Met33IlefsTer19) ERR:SPDI Analogous +NM_001329938.2:c.48C>G NP_001316867.1:p.Asn16Lys NC_000014.9:75980845:G:C p.(Asn16Lys) NC_000014.9:75980845:G:C p.(Asn16Lys) NC_000014.9:75980845:G:C Identity +NM_001256850.1:c.71832C>G NP_001243779.1:p.Asn23944Lys NC_000002.12:178569376:G:C p.(Asn23944Lys) NC_000002.12:178569376:G:C p.(Asn23944Lys) NC_000002.12:178569376:G:C Identity +NM_001365276.2:c.4961G>A NP_001352205.1:p.Arg1654His NC_000006.12:32072018:C:T p.(Arg1654His) NC_000006.12:32072018:C:T p.(Arg1654His) NC_000006.12:32072018:C:T Identity +NM_017617.5:c.4966G>A NP_060087.3:p.Gly1656Ser NC_000009.12:136504724:C:T p.(Gly1656Ser) NC_000009.12:136504724:C:T p.(Gly1656Ser) NC_000009.12:136504724:C:T Identity +NM_001377273.1:c.496C>T NP_001364202.1:p.Arg166Cys NC_000012.12:21917013:G:A p.(Arg166Cys) NC_000012.12:21917013:G:A p.(Arg166Cys) NC_000012.12:21917013:G:A Identity +NM_002354.3:c.460G>C NP_002345.2:p.Glu154Gln NC_000002.12:47375267:G:C p.(Glu154Gln) NC_000002.12:47375267:G:C p.(Glu154Gln) NC_000002.12:47375267:G:C Identity +NM_000051.4:c.4612_4621del NP_000042.3:p.Val1538fs NC_000011.10:108293312:GTATTGGACT: p.(Val1538CysfsTer2) NC_000011.10:108293312:GTATTGGACT: p.(Val1538CysfsTer2) NC_000011.10:108293312:GTATTGGACT: Analogous +NM_001127384.3:c.1015C>T NP_001120856.1:p.Leu339Phe NC_000010.11:67180348:G:A p.(Leu339Phe) NC_000010.11:67180348:G:A p.(Leu339Phe) NC_000010.11:67180348:G:A Identity +NM_001256850.1:c.72197_72198del NP_001243779.1:p.Val24066fs NC_000002.12:178569010:CACA:CA p.(Val24066GlyfsTer2) NC_000002.12:178569010:CACA:CA p.(Val24066GlyfsTer2) NC_000002.12:178569010:CA: Analogous +NM_001407021.1:c.4G>A NP_001393950.1:p.Gly2Arg NC_000007.14:151876616:C:T p.(Gly2Arg) NC_000007.14:151876616:C:T p.(Gly2Arg) NC_000007.14:151876616:C:T Identity +NM_006766.5:c.4655A>C NP_006757.2:p.Asp1552Ala NC_000008.11:41933564:T:G p.(Asp1552Ala) NC_000008.11:41933564:T:G p.(Asp1552Ala) NC_000008.11:41933564:T:G Identity +NM_198578.4:c.4658T>C NP_940980.4:p.Leu1553Ser NC_000012.12:40314092:T:C p.(Leu1553Ser) NC_000012.12:40314092:T:C p.(Leu1553Ser) NC_000012.12:40314092:T:C Identity +NM_016938.5:c.466C>T NP_058634.4:p.Arg156Cys NC_000011.10:65870559:G:A p.(Arg156Cys) NC_000011.10:65870559:G:A p.(Arg156Cys) NC_000011.10:65870559:G:A Identity +NM_001172895.1:c.375T>G NP_001166366.1:p.Cys125Trp NC_000007.14:116559217:T:G p.(Cys125Trp) NC_000007.14:116559217:T:G p.(Cys125Trp) NC_000007.14:116559217:T:G Identity +NM_001010892.3:c.46G>C NP_001010892.1:p.Glu16Gln NC_000006.12:116616668:G:C p.(Glu16Gln) NC_000006.12:116616668:G:C p.(Glu16Gln) NC_000006.12:116616668:G:C Identity +NM_001105206.3:c.4768G>A NP_001098676.2:p.Gly1590Ser NC_000006.12:112119208:C:T p.(Gly1590Ser) NC_000006.12:112119208:C:T p.(Gly1590Ser) NC_000006.12:112119208:C:T Identity +NM_024642.5:c.1183T>C NP_078918.3:p.Tyr395His NC_000009.12:98837118:T:C p.(Tyr395His) NC_000009.12:98837118:T:C p.(Tyr395His) NC_000009.12:98837118:T:C Identity +NM_001321309.2:c.4513G>A NP_001308238.1:p.Asp1505Asn NC_000003.12:123629546:C:T p.(Asp1505Asn) NC_000003.12:123629546:C:T p.(Asp1505Asn) NC_000003.12:123629546:C:T Identity +NM_001378454.1:c.11849A>G NP_001365383.1:p.Lys3950Arg NC_000002.12:73600857:A:G p.(Lys3950Arg) NC_000002.12:73600857:A:G p.(Lys3950Arg) NC_000002.12:73600857:A:G Identity +NM_000179.3:c.481A>G NP_000170.1:p.Lys161Glu NC_000002.12:47795916:A:G p.(Lys161Glu) NC_000002.12:47795916:A:G p.(Lys161Glu) NC_000002.12:47795916:A:G Identity +NM_001077653.2:c.1186C>G NP_001071121.1:p.Pro396Ala NC_000007.14:35202587:G:C p.(Pro396Ala) NC_000007.14:35202587:G:C p.(Pro396Ala) NC_000007.14:35202587:G:C Identity +NM_001170629.2:c.4840G>A NP_001164100.1:p.Val1614Ile NC_000014.9:21399682:C:T p.(Val1614Ile) NC_000014.9:21399682:C:T p.(Val1614Ile) NC_000014.9:21399682:C:T Identity +NM_052947.4:c.1187C>T NP_443179.3:p.Ala396Val NC_000018.10:58579588:G:A p.(Ala396Val) NC_000018.10:58579588:G:A p.(Ala396Val) NC_000018.10:58579588:G:A Identity +NM_001163817.2:c.501G>C NP_001157289.1:p.Trp167Cys NC_000011.10:71441351:C:G p.(Trp167Cys) NC_000011.10:71441351:C:G p.(Trp167Cys) NC_000011.10:71441351:C:G Identity +NM_001367624.2:c.5105C>G NP_001354553.1:p.Ala1702Gly NC_000016.10:88432574:C:G p.(Ala1702Gly) NC_000016.10:88432574:C:G p.(Ala1702Gly) NC_000016.10:88432574:C:G Identity +NM_001378454.1:c.4556C>T NP_001365383.1:p.Thr1519Ile NC_000002.12:73451082:C:T p.(Thr1519Ile) NC_000002.12:73451082:C:T p.(Thr1519Ile) NC_000002.12:73451082:C:T Identity +NM_017617.5:c.4589C>T NP_060087.3:p.Pro1530Leu NC_000009.12:136505101:G:A p.(Pro1530Leu) NC_000009.12:136505101:G:A p.(Pro1530Leu) NC_000009.12:136505101:G:A Identity +NM_006218.4:c.45G>C NP_006209.2:p.Leu15Phe NC_000003.12:179198869:G:C p.(Leu15Phe) NC_000003.12:179198869:G:C p.(Leu15Phe) NC_000003.12:179198869:G:C Identity +NM_024642.5:c.461G>T NP_078918.3:p.Arg154Leu NC_000009.12:98823344:G:T p.(Arg154Leu) NC_000009.12:98823344:G:T p.(Arg154Leu) NC_000009.12:98823344:G:T Identity +NM_001098623.2:c.4676C>T NP_001092093.2:p.Ala1559Val NC_000001.11:228264205:C:T p.(Ala1559Val) NC_000001.11:228264205:C:T p.(Ala1559Val) NC_000001.11:228264205:C:T Identity +NM_002432.3:c.471G>T NP_002423.1:p.Lys157Asn NC_000001.11:158844022:G:T p.(Lys157Asn) NC_000001.11:158844022:G:T p.(Lys157Asn) NC_000001.11:158844022:G:T Identity +NM_001868.4:c.473A>G NP_001859.1:p.Tyr158Cys NC_000007.14:130382198:A:G p.(Tyr158Cys) NC_000007.14:130382198:A:G p.(Tyr158Cys) NC_000007.14:130382198:A:G Identity +NM_001999.4:c.4748T>C NP_001990.2:p.Phe1583Ser NC_000005.10:128312764:A:G p.(Phe1583Ser) NC_000005.10:128312764:A:G p.(Phe1583Ser) NC_000005.10:128312764:A:G Identity +NM_002471.4:c.4753A>T NP_002462.2:p.Met1585Leu NC_000014.9:23386520:T:A p.(Met1585Leu) NC_000014.9:23386520:T:A p.(Met1585Leu) NC_000014.9:23386520:T:A Identity +NM_001282386.1:c.1015G>A NP_001269315.1:p.Gly339Arg NC_000002.12:208239209:C:T p.(Gly339Arg) NC_000002.12:208239209:C:T p.(Gly339Arg) NC_000002.12:208239209:C:T Identity +NM_000535.7:c.47A>T NP_000526.2:p.Lys16Ile NC_000007.14:6006007:T:A p.(Lys16Ile) NC_000007.14:6006007:T:A p.(Lys16Ile) NC_000007.14:6006007:T:A Identity +NM_001303245.3:c.480T>G NP_001290174.1:p.Asn160Lys NC_000003.12:141540561:T:G p.(Asn160Lys) NC_000003.12:141540561:T:G p.(Asn160Lys) NC_000003.12:141540561:T:G Identity +NM_001349253.2:c.4823A>G NP_001336182.1:p.Asn1608Ser NC_000003.12:38847246:T:C p.(Asn1608Ser) NC_000003.12:38847246:T:C p.(Asn1608Ser) NC_000003.12:38847246:T:C Identity +NM_001365951.3:c.5006T>A NP_001352880.1:p.Ile1669Asn NC_000001.11:10374374:T:A p.(Ile1669Asn) NC_000001.11:10374374:T:A p.(Ile1669Asn) NC_000001.11:10374374:T:A Identity +NM_198578.4:c.4871G>T NP_940980.4:p.Gly1624Val NC_000012.12:40320030:G:T p.(Gly1624Val) NC_000012.12:40320030:G:T p.(Gly1624Val) NC_000012.12:40320030:G:T Identity +NM_000249.4:c.487A>T NP_000240.1:p.Arg163Ter NC_000003.12:37008846:A:T p.(Arg163Ter) NC_000003.12:37008846:A:T p.(Arg163Ter) NC_000003.12:37008846:A:T Identity +NM_001321307.1:c.1016A>C NP_001308236.1:p.Asn339Thr NC_000011.10:108176361:T:G p.(Asn339Thr) NC_000011.10:108176361:T:G p.(Asn339Thr) NC_000011.10:108176361:T:G Identity +NM_001195573.1:c.4916A>T NP_001182502.1:p.Tyr1639Phe NC_000014.9:95096003:T:A p.(Tyr1639Phe) NC_000014.9:95096003:T:A p.(Tyr1639Phe) NC_000014.9:95096003:T:A Identity +NM_000257.4:c.4960del NP_000248.2:p.Gln1654fs NC_000014.9:23415825:GGG:GG p.(Gln1654ArgfsTer14) NC_000014.9:23415825:GGG:GG p.(Gln1654ArgfsTer14) NC_000014.9:23415825:G: Analogous +NM_001148.6:c.4A>G NP_001139.3:p.Met2Val NC_000004.12:113049731:A:G p.(Met2Val) NC_000004.12:113049731:A:G p.(Met2Val) NC_000004.12:113049731:A:G Identity +NM_000051.4:c.5003T>G NP_000042.3:p.Leu1668Arg NC_000011.10:108297379:T:G p.(Leu1668Arg) NC_000011.10:108297379:T:G p.(Leu1668Arg) NC_000011.10:108297379:T:G Identity +NM_181426.2:c.501T>A NP_852091.1:p.Asp167Glu NC_000003.12:180660584:A:T p.(Asp167Glu) NC_000003.12:180660584:A:T p.(Asp167Glu) NC_000003.12:180660584:A:T Identity +NM_001406559.1:c.503T>C NP_001393488.1:p.Ile168Thr NC_000010.11:86900098:T:C p.(Ile168Thr) NC_000010.11:86900098:T:C p.(Ile168Thr) NC_000010.11:86900098:T:C Identity +NM_001318194.2:c.152A>G NP_001305123.1:p.Asp51Gly NC_000016.10:2044672:T:C p.(Asp51Gly) NC_000016.10:2044672:T:C p.(Asp51Gly) NC_000016.10:2044672:T:C Identity +NM_000051.4:c.5084C>A NP_000042.3:p.Ser1695Tyr NC_000011.10:108299791:C:A p.(Ser1695Tyr) NC_000011.10:108299791:C:A p.(Ser1695Tyr) NC_000011.10:108299791:C:A Identity +NM_001142348.2:c.106G>A NP_001135820.1:p.Val36Met NC_000011.10:118141291:C:T p.(Val36Met) NC_000011.10:118141291:C:T p.(Val36Met) NC_000011.10:118141291:C:T Identity +NM_002769.5:c.50C>G NP_002760.1:p.Pro17Arg NC_000007.14:142750563:C:G p.(Pro17Arg) NC_000007.14:142750563:C:G p.(Pro17Arg) NC_000007.14:142750563:C:G Identity +NM_032043.3:c.510T>G NP_114432.2:p.Ile170Met NC_000017.11:61847217:A:C p.(Ile170Met) NC_000017.11:61847217:A:C p.(Ile170Met) NC_000017.11:61847217:A:C Identity +NM_000245.4:c.506C>G NP_000236.2:p.Pro169Arg NC_000007.14:116699589:C:G p.(Pro169Arg) NC_000007.14:116699589:C:G p.(Pro169Arg) NC_000007.14:116699589:C:G Identity +NM_002769.5:c.509A>T NP_002760.1:p.Lys170Met NC_000007.14:142752484:A:T p.(Lys170Met) NC_000007.14:142752484:A:T p.(Lys170Met) NC_000007.14:142752484:A:T Identity +NM_001024847.3:c.584T>G NP_001020018.1:p.Ile195Ser NC_000003.12:30671691:T:G p.(Ile195Ser) NC_000003.12:30671691:T:G p.(Ile195Ser) NC_000003.12:30671691:T:G Identity +NM_001098623.2:c.11932C>A NP_001092093.2:p.Pro3978Thr NC_000001.11:228306905:C:A p.(Pro3978Thr) NC_000001.11:228306905:C:A p.(Pro3978Thr) NC_000001.11:228306905:C:A Identity +NM_001195573.1:c.5075A>T NP_001182502.1:p.Tyr1692Phe NC_000014.9:95095844:T:A p.(Tyr1692Phe) NC_000014.9:95095844:T:A p.(Tyr1692Phe) NC_000014.9:95095844:T:A Identity +NM_000264.5:c.50G>A NP_000255.2:p.Gly17Asp NC_000009.12:95508311:C:T p.(Gly17Asp) NC_000009.12:95508311:C:T p.(Gly17Asp) NC_000009.12:95508311:C:T Identity +NM_001365951.3:c.5273del NP_001352880.1:p.Gln1758fs NC_000001.11:10375029:A: p.(Gln1758ArgfsTer5) NC_000001.11:10375029:A: p.(Gln1758ArgfsTer5) NC_000001.11:10375029:A: Analogous +NM_001098623.2:c.5128C>T NP_001092093.2:p.Gln1710Ter NC_000001.11:228268795:C:T p.(Gln1710Ter) NC_000001.11:228268795:C:T p.(Gln1710Ter) NC_000001.11:228268795:C:T Identity +NM_001386339.1:c.5228T>C NP_001373268.1:p.Met1743Thr NC_000011.10:9785223:A:G p.(Met1743Thr) NC_000011.10:9785223:A:G p.(Met1743Thr) NC_000011.10:9785223:A:G Identity +NM_199420.4:c.5126A>G NP_955452.3:p.Glu1709Gly NC_000003.12:121487804:T:C p.(Glu1709Gly) NC_000003.12:121487804:T:C p.(Glu1709Gly) NC_000003.12:121487804:T:C Identity +NM_001294332.2:c.368G>C NP_001281261.1:p.Arg123Pro NC_000005.10:225937:G:C p.(Arg123Pro) NC_000005.10:225937:G:C p.(Arg123Pro) NC_000005.10:225937:G:C Identity +NM_001378454.1:c.5164T>C NP_001365383.1:p.Tyr1722His NC_000002.12:73451690:T:C p.(Tyr1722His) NC_000002.12:73451690:T:C p.(Tyr1722His) NC_000002.12:73451690:T:C Identity +NM_000744.7:c.516G>C NP_000735.1:p.Gln172His NC_000020.11:63350894:C:G p.(Gln172His) NC_000020.11:63350894:C:G p.(Gln172His) NC_000020.11:63350894:C:G Identity +NM_002769.5:c.518C>G NP_002760.1:p.Ala173Gly NC_000007.14:142752493:C:G p.(Ala173Gly) NC_000007.14:142752493:C:G p.(Ala173Gly) NC_000007.14:142752493:C:G Identity +NM_006231.4:c.5204C>A NP_006222.2:p.Ala1735Asp NC_000012.12:132641820:G:T p.(Ala1735Asp) NC_000012.12:132641820:G:T p.(Ala1735Asp) NC_000012.12:132641820:G:T Identity +NM_001293306.2:c.5236A>G NP_001280235.2:p.Thr1746Ala NC_000003.12:38697980:T:C p.(Thr1746Ala) NC_000003.12:38697980:T:C p.(Thr1746Ala) NC_000003.12:38697980:T:C Identity +NM_001365951.3:c.5327G>C NP_001352880.1:p.Gly1776Ala NC_000001.11:10375291:G:C p.(Gly1776Ala) NC_000001.11:10375291:G:C p.(Gly1776Ala) NC_000001.11:10375291:G:C Identity +NM_001166108.2:c.51G>T NP_001159580.1:p.Met17Ile NC_000004.12:168511554:G:T p.(Met17Ile) NC_000004.12:168511554:G:T p.(Met17Ile) NC_000004.12:168511554:G:T Identity +NM_001195573.1:c.5210C>T NP_001182502.1:p.Ser1737Phe NC_000014.9:95094041:G:A p.(Ser1737Phe) NC_000014.9:95094041:G:A p.(Ser1737Phe) NC_000014.9:95094041:G:A Identity +NM_001367624.2:c.5342G>T NP_001354553.1:p.Gly1781Val NC_000016.10:88432811:G:T p.(Gly1781Val) NC_000016.10:88432811:G:T p.(Gly1781Val) NC_000016.10:88432811:G:T Identity +NM_001256850.1:c.74789T>G NP_001243779.1:p.Leu24930Ter NC_000002.12:178566419:A:C p.(Leu24930Ter) NC_000002.12:178566419:A:C p.(Leu24930Ter) NC_000002.12:178566419:A:C Identity +NM_001081640.2:c.11893G>A NP_001075109.1:p.Gly3965Ser NC_000008.11:47777741:C:T p.(Gly3965Ser) NC_000008.11:47777741:C:T p.(Gly3965Ser) NC_000008.11:47777741:C:T Identity +NM_199420.4:c.5270T>C NP_955452.3:p.Val1757Ala NC_000003.12:121487660:A:G p.(Val1757Ala) NC_000003.12:121487660:A:G p.(Val1757Ala) NC_000003.12:121487660:A:G Identity +NM_000039.3:c.523C>G NP_000030.1:p.Arg175Gly NC_000011.10:116836088:G:C p.(Arg175Gly) NC_000011.10:116836088:G:C p.(Arg175Gly) NC_000011.10:116836088:G:C Identity +NM_002471.3:c.5260_5262GAG[1] NP_002462.2:p.Glu1755del NC_000014.9:23384939:CTCCTC:CTC ERR:Data provider error: ValueError: Transcript NM_002471.3 not found ERR:Data provider error: ValueError: Transcript NM_002471.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_002471.3 not found +NM_198578.4:c.5257G>A NP_940980.4:p.Glu1753Lys NC_000012.12:40322120:G:A p.(Glu1753Lys) NC_000012.12:40322120:G:A p.(Glu1753Lys) NC_000012.12:40322120:G:A Identity +NM_001277115.2:c.5258A>G NP_001264044.1:p.Asp1753Gly NC_000007.14:21658960:A:G p.(Asp1753Gly) NC_000007.14:21658960:A:G p.(Asp1753Gly) NC_000007.14:21658960:A:G Identity +NM_199420.4:c.5269G>C NP_955452.3:p.Val1757Leu NC_000003.12:121487661:C:G p.(Val1757Leu) NC_000003.12:121487661:C:G p.(Val1757Leu) NC_000003.12:121487661:C:G Identity +NM_000337.6:c.527A>C NP_000328.2:p.Lys176Thr NC_000005.10:156647487:A:C p.(Lys176Thr) NC_000005.10:156647487:A:C p.(Lys176Thr) NC_000005.10:156647487:A:C Identity +NM_001282404.2:c.208G>A NP_001269333.1:p.Ala70Thr NC_000007.14:76060471:G:A p.(Ala70Thr) NC_000007.14:76060471:G:A p.(Ala70Thr) NC_000007.14:76060471:G:A Identity +NM_001253815.2:c.1199G>T NP_001240744.1:p.Gly400Val NC_000008.11:144360875:G:T p.(Gly400Val) NC_000008.11:144360875:G:T p.(Gly400Val) NC_000008.11:144360875:G:T Identity +NM_000059.4:c.5307T>A NP_000050.3:p.Asp1769Glu NC_000013.11:32339661:T:A p.(Asp1769Glu) NC_000013.11:32339661:T:A p.(Asp1769Glu) NC_000013.11:32339661:T:A Identity +NM_001378454.1:c.116A>G NP_001365383.1:p.Asp39Gly NC_000002.12:73385983:A:G p.(Asp39Gly) NC_000002.12:73385983:A:G p.(Asp39Gly) NC_000002.12:73385983:A:G Identity +NM_001369.3:c.5282G>A NP_001360.1:p.Arg1761Gln NC_000005.10:13841893:C:T p.(Arg1761Gln) NC_000005.10:13841893:C:T p.(Arg1761Gln) NC_000005.10:13841893:C:T Identity +NM_000455.5:c.11T>G NP_000446.1:p.Val4Gly NC_000019.10:1206923:T:G p.(Val4Gly) NC_000019.10:1206923:T:G p.(Val4Gly) NC_000019.10:1206923:T:G Identity +NM_002432.3:c.539C>T NP_002423.1:p.Ser180Leu NC_000001.11:158844090:C:T p.(Ser180Leu) NC_000001.11:158844090:C:T p.(Ser180Leu) NC_000001.11:158844090:C:T Identity +NM_000059.4:c.5357G>C NP_000050.3:p.Ser1786Thr NC_000013.11:32339711:G:C p.(Ser1786Thr) NC_000013.11:32339711:G:C p.(Ser1786Thr) NC_000013.11:32339711:G:C Identity +NM_001407274.1:c.540G>A NP_001394203.1:p.Met180Ile NC_000003.12:14133762:G:A p.(Met180Ile) NC_000003.12:14133762:G:A p.(Met180Ile) NC_000003.12:14133762:G:A Identity +NM_001303245.3:c.11C>T NP_001290174.1:p.Ala4Val NC_000003.12:141487093:C:T p.(Ala4Val) NC_000003.12:141487093:C:T p.(Ala4Val) NC_000003.12:141487093:C:T Identity +NM_052947.4:c.5380G>C NP_443179.3:p.Ala1794Pro NC_000018.10:58529211:C:G p.(Ala1794Pro) NC_000018.10:58529211:C:G p.(Ala1794Pro) NC_000018.10:58529211:C:G Identity +NM_006231.4:c.5387A>G NP_006222.2:p.Lys1796Arg NC_000012.12:132639289:T:C p.(Lys1796Arg) NC_000012.12:132639289:T:C p.(Lys1796Arg) NC_000012.12:132639289:T:C Identity +NM_001253815.2:c.538A>C NP_001240744.1:p.Thr180Pro NC_000008.11:144360029:A:C p.(Thr180Pro) NC_000008.11:144360029:A:C p.(Thr180Pro) NC_000008.11:144360029:A:C Identity +NM_005431.2:c.53T>C NP_005422.1:p.Leu18Pro NC_000007.14:152660768:A:G p.(Leu18Pro) NC_000007.14:152660768:A:G p.(Leu18Pro) NC_000007.14:152660768:A:G Identity +NM_001040113.2:c.5422C>T NP_001035202.1:p.Leu1808Phe NC_000016.10:15717242:G:A p.(Leu1808Phe) NC_000016.10:15717242:G:A p.(Leu1808Phe) NC_000016.10:15717242:G:A Identity +NM_000719.7:c.5431C>T NP_000710.5:p.Leu1811Phe NC_000012.12:2679782:C:T p.(Leu1811Phe) NC_000012.12:2679782:C:T p.(Leu1811Phe) NC_000012.12:2679782:C:T Identity +NM_001160227.2:c.5413C>T NP_001153699.1:p.Arg1805Cys NC_000015.10:44584266:G:A p.(Arg1805Cys) NC_000015.10:44584266:G:A p.(Arg1805Cys) NC_000015.10:44584266:G:A Identity +NM_001406559.1:c.619A>G NP_001393488.1:p.Ser207Gly NC_000010.11:86912252:A:G p.(Ser207Gly) NC_000010.11:86912252:A:G p.(Ser207Gly) NC_000010.11:86912252:A:G Identity +NM_000052.7:c.541A>G NP_000043.4:p.Thr181Ala NC_000023.11:77988661:A:G p.(Thr181Ala) NC_000023.11:77988661:A:G p.(Thr181Ala) NC_000023.11:77988661:A:G Identity +NM_000323.2:c.541C>G NP_000314.1:p.Pro181Ala NC_000010.11:43102544:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000038.6:c.5442_5443del NP_000029.2:p.Asn1815fs NC_000005.10:112841034:AGA:A p.(Asn1815PhefsTer4) NC_000005.10:112841034:AGA:A p.(Asn1815PhefsTer4) NC_000005.10:112841035:GA: Analogous +NM_001098623.2:c.5458G>A NP_001092093.2:p.Gly1820Ser NC_000001.11:228274218:G:A p.(Gly1820Ser) NC_000001.11:228274218:G:A p.(Gly1820Ser) NC_000001.11:228274218:G:A Identity +NM_001184.4:c.5492T>C NP_001175.2:p.Ile1831Thr NC_000003.12:142498662:A:G p.(Ile1831Thr) NC_000003.12:142498662:A:G p.(Ile1831Thr) NC_000003.12:142498662:A:G Identity +NM_002317.7:c.548A>T NP_002308.2:p.Tyr183Phe NC_000005.10:122077437:T:A p.(Tyr183Phe) NC_000005.10:122077437:T:A p.(Tyr183Phe) NC_000005.10:122077437:T:A Identity +NM_130468.4:c.1000G>A NP_569735.1:p.Glu334Lys NC_000015.10:40472212:G:A p.(Glu334Lys) NC_000015.10:40472212:G:A p.(Glu334Lys) NC_000015.10:40472212:G:A Identity +NM_001271282.3:c.5497G>T NP_001258211.1:p.Val1833Leu NC_000014.9:95091232:C:A p.(Val1833Leu) NC_000014.9:95091232:C:A p.(Val1833Leu) NC_000014.9:95091232:C:A Identity +NM_001367624.2:c.5534C>T NP_001354553.1:p.Pro1845Leu NC_000016.10:88433003:C:T p.(Pro1845Leu) NC_000016.10:88433003:C:T p.(Pro1845Leu) NC_000016.10:88433003:C:T Identity +NM_002439.5:c.550G>A NP_002430.3:p.Glu184Lys NC_000005.10:80665333:G:A p.(Glu184Lys) NC_000005.10:80665333:G:A p.(Glu184Lys) NC_000005.10:80665333:G:A Identity +NM_001406821.1:c.254_269del16 NP_001393750.1:p.Asn85Argfs NC_000002.12:47795982:TTAAATAAAGACAAGATTAA:TTAA p.(Asn85ArgfsTer22) NC_000002.12:47795982:TTAAATAAAGACAAGATTAA:TTAA p.(Asn85ArgfsTer22) NC_000002.12:47795986:ATAAAGACAAGATTAA: Analogous +NM_000335.5:c.5531G>A NP_000326.2:p.Gly1844Glu NC_000003.12:38550837:C:T p.(Gly1844Glu) NC_000003.12:38550837:C:T p.(Gly1844Glu) NC_000003.12:38550837:C:T Identity +NM_001407457.1:c.5287dup NP_001394386.1:p.Tyr1763Leufs NC_000005.10:112841128:TT:TTT p.(Tyr1763LeufsTer5) NC_000005.10:112841128:TT:TTT p.(Tyr1763LeufsTer5) ERR:SPDI Analogous +NM_031407.7:c.5594G>C NP_113584.3:p.Arg1865Pro NC_000023.11:53580952:C:G p.(Arg1865Pro) NC_000023.11:53580952:C:G p.(Arg1865Pro) NC_000023.11:53580952:C:G Identity +NM_001256850.1:c.77481G>T NP_001243779.1:p.Lys25827Asn NC_000002.12:178563727:C:A p.(Lys25827Asn) NC_000002.12:178563727:C:A p.(Lys25827Asn) NC_000002.12:178563727:C:A Identity +NM_001040108.2:c.553A>G NP_001035197.1:p.Ile185Val NC_000014.9:75049102:T:C p.(Ile185Val) NC_000014.9:75049102:T:C p.(Ile185Val) NC_000014.9:75049102:T:C Identity +NM_001256850.1:c.77929A>T NP_001243779.1:p.Thr25977Ser NC_000002.12:178563279:T:A p.(Thr25977Ser) NC_000002.12:178563279:T:A p.(Thr25977Ser) NC_000002.12:178563279:T:A Identity +NM_001256850.1:c.556A>T NP_001243779.1:p.Thr186Ser NC_000002.12:178800421:T:A p.(Thr186Ser) NC_000002.12:178800421:T:A p.(Thr186Ser) NC_000002.12:178800421:T:A Identity +NM_001321307.1:c.557C>T NP_001308236.1:p.Thr186Ile NC_000011.10:108188178:G:A p.(Thr186Ile) NC_000011.10:108188178:G:A p.(Thr186Ile) NC_000011.10:108188178:G:A Identity +NM_000179.3:c.558C>A NP_000170.1:p.Asp186Glu NC_000002.12:47795993:C:A p.(Asp186Glu) NC_000002.12:47795993:C:A p.(Asp186Glu) NC_000002.12:47795993:C:A Identity +NM_001282386.1:c.1205G>A NP_001269315.1:p.Gly402Glu NC_000002.12:208237118:C:T p.(Gly402Glu) NC_000002.12:208237118:C:T p.(Gly402Glu) NC_000002.12:208237118:C:T Identity +NM_000314.8:c.563A>T NP_000305.3:p.Tyr188Phe NC_000010.11:87952187:A:T p.(Tyr188Phe) NC_000010.11:87952187:A:T p.(Tyr188Phe) NC_000010.11:87952187:A:T Identity +NM_024642.5:c.565A>G NP_078918.3:p.Asn189Asp NC_000009.12:98826774:A:G p.(Asn189Asp) NC_000009.12:98826774:A:G p.(Asn189Asp) NC_000009.12:98826774:A:G Identity +NM_001367624.2:c.5666C>T NP_001354553.1:p.Pro1889Leu NC_000016.10:88433135:C:T p.(Pro1889Leu) NC_000016.10:88433135:C:T p.(Pro1889Leu) NC_000016.10:88433135:C:T Identity +NM_001362930.2:c.55A>G NP_001349859.1:p.Lys19Glu NC_000008.11:74350515:A:G p.(Lys19Glu) NC_000008.11:74350515:A:G p.(Lys19Glu) NC_000008.11:74350515:A:G Identity +NM_020778.5:c.5000C>T NP_065829.4:p.Thr1667Ile NC_000015.10:84868337:C:T p.(Thr1667Ile) NC_000015.10:84868337:C:T p.(Thr1667Ile) NC_000015.10:84868337:C:T Identity +NM_001014431.2:c.560T>G NP_001014431.1:p.Val187Gly NC_000014.9:104775082:A:C p.(Val187Gly) NC_000014.9:104775082:A:C p.(Val187Gly) NC_000014.9:104775082:A:C Identity +NM_000051.4:c.5607T>G NP_000042.3:p.Phe1869Leu NC_000011.10:108304784:T:G p.(Phe1869Leu) NC_000011.10:108304784:T:G p.(Phe1869Leu) NC_000011.10:108304784:T:G Identity +NM_001184.4:c.5710C>T NP_001175.2:p.Arg1904Trp NC_000003.12:142497040:G:A p.(Arg1904Trp) NC_000003.12:142497040:G:A p.(Arg1904Trp) NC_000003.12:142497040:G:A Identity +NM_000251.3:c.560T>A NP_000242.1:p.Leu187His NC_000002.12:47410286:T:A p.(Leu187His) NC_000002.12:47410286:T:A p.(Leu187His) NC_000002.12:47410286:T:A Identity +NM_000268.4:c.1205C>T NP_000259.1:p.Ala402Val NC_000022.11:29673350:C:T p.(Ala402Val) NC_000022.11:29673350:C:T p.(Ala402Val) NC_000022.11:29673350:C:T Identity +NM_030777.4:c.566C>T NP_110404.1:p.Thr189Ile NC_000020.11:46725601:C:T p.(Thr189Ile) NC_000020.11:46725601:C:T p.(Thr189Ile) NC_000020.11:46725601:C:T Identity +NM_001144769.5:c.5666G>A NP_001138241.1:p.Gly1889Glu NC_000006.12:56597911:C:T p.(Gly1889Glu) NC_000006.12:56597911:C:T p.(Gly1889Glu) NC_000006.12:56597911:C:T Identity +NM_001014431.2:c.566A>T NP_001014431.1:p.Lys189Met NC_000014.9:104775076:T:A p.(Lys189Met) NC_000014.9:104775076:T:A p.(Lys189Met) NC_000014.9:104775076:T:A Identity +NM_001077653.2:c.572T>C NP_001071121.1:p.Phe191Ser NC_000007.14:35245030:A:G p.(Phe191Ser) NC_000007.14:35245030:A:G p.(Phe191Ser) NC_000007.14:35245030:A:G Identity +NM_001166108.2:c.578C>T NP_001159580.1:p.Pro193Leu NC_000004.12:168512081:C:T p.(Pro193Leu) NC_000004.12:168512081:C:T p.(Pro193Leu) NC_000004.12:168512081:C:T Identity +NM_001346599.2:c.334A>T NP_001333528.1:p.Thr112Ser NC_000007.14:105546961:A:T p.(Thr112Ser) NC_000007.14:105546961:A:T p.(Thr112Ser) NC_000007.14:105546961:A:T Identity +NM_000136.3:c.569T>G NP_000127.2:p.Leu190Arg NC_000009.12:95150039:A:C p.(Leu190Arg) NC_000009.12:95150039:A:C p.(Leu190Arg) NC_000009.12:95150039:A:C Identity +NM_001407447.1:c.5785C>A NP_001394376.1:p.Gln1929Lys NC_000005.10:112841324:C:A p.(Gln1929Lys) NC_000005.10:112841324:C:A p.(Gln1929Lys) NC_000005.10:112841324:C:A Identity +NM_000209.4:c.569T>C NP_000200.1:p.Ile190Thr NC_000013.11:27924417:T:C p.(Ile190Thr) NC_000013.11:27924417:T:C p.(Ile190Thr) NC_000013.11:27924417:T:C Identity +NM_001256850.1:c.12223A>T NP_001243779.1:p.Arg4075Ter NC_000002.12:178740058:T:A p.(Arg4075Ter) NC_000002.12:178740058:T:A p.(Arg4075Ter) NC_000002.12:178740058:T:A Identity +NM_001081640.2:c.11996A>G NP_001075109.1:p.Glu3999Gly NC_000008.11:47776936:T:C p.(Glu3999Gly) NC_000008.11:47776936:T:C p.(Glu3999Gly) NC_000008.11:47776936:T:C Identity +NM_000059.4:c.5803A>T NP_000050.3:p.Asn1935Tyr NC_000013.11:32340157:A:T p.(Asn1935Tyr) NC_000013.11:32340157:A:T p.(Asn1935Tyr) NC_000013.11:32340157:A:T Identity +NM_001256850.1:c.80427G>C NP_001243779.1:p.Lys26809Asn NC_000002.12:178560781:C:G p.(Lys26809Asn) NC_000002.12:178560781:C:G p.(Lys26809Asn) NC_000002.12:178560781:C:G Identity +NM_052947.4:c.5785G>A NP_443179.3:p.Val1929Ile NC_000018.10:58517062:C:T p.(Val1929Ile) NC_000018.10:58517062:C:T p.(Val1929Ile) NC_000018.10:58517062:C:T Identity +NM_006766.5:c.5791A>G NP_006757.2:p.Met1931Val NC_000008.11:41932428:T:C p.(Met1931Val) NC_000008.11:41932428:T:C p.(Met1931Val) NC_000008.11:41932428:T:C Identity +NM_000039.3:c.576C>G NP_000030.1:p.Asp192Glu NC_000011.10:116836035:G:C p.(Asp192Glu) NC_000011.10:116836035:G:C p.(Asp192Glu) NC_000011.10:116836035:G:C Identity +NM_000059.4:c.5782G>C NP_000050.3:p.Glu1928Gln NC_000013.11:32340136:G:C p.(Glu1928Gln) NC_000013.11:32340136:G:C p.(Glu1928Gln) NC_000013.11:32340136:G:C Identity +NM_001098623.2:c.5920G>A NP_001092093.2:p.Gly1974Ser NC_000001.11:228274807:G:A p.(Gly1974Ser) NC_000001.11:228274807:G:A p.(Gly1974Ser) NC_000001.11:228274807:G:A Identity +NM_000118.4:c.582_583insCATG NP_000109.1:p.Glu195Hisfs NC_000009.12:127825801::CATG p.(Glu195HisfsTer140) NC_000009.12:127825800:C:CATG p.(Glu195HisfsTer140) NC_000009.12:127825801:CG:CATG Analogous +NM_001407041.1:c.584dup NP_001393970.1:p.Tyr195Terfs NC_000018.10:51054909:A:AA p.(Tyr195Ter) NC_000018.10:51054909:A:AA p.(Tyr195Ter) ERR:SPDI Analogous +NM_000057.4:c.586G>T NP_000048.1:p.Ala196Ser NC_000015.10:90749853:G:T p.(Ala196Ser) NC_000015.10:90749853:G:T p.(Ala196Ser) NC_000015.10:90749853:G:T Identity +NM_001378454.1:c.12101G>A NP_001365383.1:p.Arg4034Lys NC_000002.12:73601422:G:A p.(Arg4034Lys) NC_000002.12:73601422:G:A p.(Arg4034Lys) NC_000002.12:73601422:G:A Identity +NM_199420.4:c.5842C>T NP_955452.3:p.Leu1948Phe NC_000003.12:121483513:G:A p.(Leu1948Phe) NC_000003.12:121483513:G:A p.(Leu1948Phe) NC_000003.12:121483513:G:A Identity +NM_001144769.5:c.5872G>C NP_001138241.1:p.Ala1958Pro NC_000006.12:56594159:C:G p.(Ala1958Pro) NC_000006.12:56594159:C:G p.(Ala1958Pro) NC_000006.12:56594159:C:G Identity +NM_001277115.2:c.12124A>G NP_001264044.1:p.Ile4042Val NC_000007.14:21873429:A:G p.(Ile4042Val) NC_000007.14:21873429:A:G p.(Ile4042Val) NC_000007.14:21873429:A:G Identity +NM_000535.7:c.1210C>T NP_000526.2:p.Pro404Ser NC_000007.14:5987554:G:A p.(Pro404Ser) NC_000007.14:5987554:G:A p.(Pro404Ser) NC_000007.14:5987554:G:A Identity +NM_001211.6:c.590A>G NP_001202.5:p.Gln197Arg NC_000015.10:40183721:A:G p.(Gln197Arg) NC_000015.10:40183721:A:G p.(Gln197Arg) NC_000015.10:40183721:A:G Identity +NM_001077653.2:c.1211G>A NP_001071121.1:p.Ser404Asn NC_000007.14:35202562:C:T p.(Ser404Asn) NC_000007.14:35202562:C:T p.(Ser404Asn) NC_000007.14:35202562:C:T Identity +NM_001130144.3:c.592G>A NP_001123616.1:p.Gly198Arg NC_000011.10:65554119:C:T p.(Gly198Arg) NC_000011.10:65554119:C:T p.(Gly198Arg) NC_000011.10:65554119:C:T Identity +NM_001144769.5:c.5938G>T NP_001138241.1:p.Glu1980Ter NC_000006.12:56594093:C:A p.(Glu1980Ter) NC_000006.12:56594093:C:A p.(Glu1980Ter) NC_000006.12:56594093:C:A Identity +NM_001184.4:c.5899G>A NP_001175.2:p.Gly1967Ser NC_000003.12:142493310:C:T p.(Gly1967Ser) NC_000003.12:142493310:C:T p.(Gly1967Ser) NC_000003.12:142493310:C:T Identity +NM_198578.4:c.5924C>T NP_940980.4:p.Ala1975Val NC_000012.12:40335132:C:T p.(Ala1975Val) NC_000012.12:40335132:C:T p.(Ala1975Val) NC_000012.12:40335132:C:T Identity +NM_002432.3:c.592C>G NP_002423.1:p.Arg198Gly NC_000001.11:158845607:C:G p.(Arg198Gly) NC_000001.11:158845607:C:G p.(Arg198Gly) NC_000001.11:158845607:C:G Identity +NM_001184.4:c.6025T>C NP_001175.2:p.Phe2009Leu NC_000003.12:142493184:A:G p.(Phe2009Leu) NC_000003.12:142493184:A:G p.(Phe2009Leu) NC_000003.12:142493184:A:G Identity +NM_052947.4:c.5912T>G NP_443179.3:p.Ile1971Ser NC_000018.10:58516935:A:C p.(Ile1971Ser) NC_000018.10:58516935:A:C p.(Ile1971Ser) NC_000018.10:58516935:A:C Identity +NM_002432.3:c.596A>T NP_002423.1:p.Gln199Leu NC_000001.11:158845611:A:T p.(Gln199Leu) NC_000001.11:158845611:A:T p.(Gln199Leu) NC_000001.11:158845611:A:T Identity +NM_000118.4:c.595dup NP_000109.1:p.Arg199Profs NC_000009.12:127825788:G:GG p.(Arg199ProfsTer135) NC_000009.12:127825788:G:GG p.(Arg199ProfsTer135) ERR:SPDI Analogous +NM_001135599.4:c.679C>T NP_001129071.1:p.Leu227Phe NC_000001.11:218434165:C:T p.(Leu227Phe) NC_000001.11:218434165:C:T p.(Leu227Phe) NC_000001.11:218434165:C:T Identity +NM_004588.5:c.598G>A NP_004579.1:p.Glu200Lys NC_000011.10:118166936:C:T p.(Glu200Lys) NC_000011.10:118166936:C:T p.(Glu200Lys) NC_000011.10:118166936:C:T Identity +NM_001184.4:c.5980A>G NP_001175.2:p.Lys1994Glu NC_000003.12:142493229:T:C p.(Lys1994Glu) NC_000003.12:142493229:T:C p.(Lys1994Glu) NC_000003.12:142493229:T:C Identity +NM_001289396.2:c.598G>A NP_001276325.1:p.Glu200Lys NC_000009.12:2039707:G:A p.(Glu200Lys) NC_000009.12:2039707:G:A p.(Glu200Lys) NC_000009.12:2039707:G:A Identity +NM_052947.4:c.6080C>T NP_443179.3:p.Ala2027Val NC_000018.10:58504097:G:A p.(Ala2027Val) NC_000018.10:58504097:G:A p.(Ala2027Val) NC_000018.10:58504097:G:A Identity +NM_018975.4:c.604G>A NP_061848.2:p.Val202Met NC_000016.10:75648485:G:A p.(Val202Met) NC_000016.10:75648485:G:A p.(Val202Met) NC_000016.10:75648485:G:A Identity +NM_000038.6:c.6125G>A NP_000029.2:p.Cys2042Tyr NC_000005.10:112841718:G:A p.(Cys2042Tyr) NC_000005.10:112841718:G:A p.(Cys2042Tyr) NC_000005.10:112841718:G:A Identity +NM_001184.4:c.1217A>G NP_001175.2:p.Glu406Gly NC_000003.12:142561374:T:C p.(Glu406Gly) NC_000003.12:142561374:T:C p.(Glu406Gly) NC_000003.12:142561374:T:C Identity +NM_000249.4:c.605C>T NP_000240.1:p.Ala202Val NC_000003.12:37012026:C:T p.(Ala202Val) NC_000003.12:37012026:C:T p.(Ala202Val) NC_000003.12:37012026:C:T Identity +NM_002769.5:c.608C>T NP_002760.1:p.Pro203Leu NC_000007.14:142752883:C:T p.(Pro203Leu) NC_000007.14:142752883:C:T p.(Pro203Leu) NC_000007.14:142752883:C:T Identity +NM_002769.5:c.601G>C NP_002760.1:p.Gly201Arg NC_000007.14:142752876:G:C p.(Gly201Arg) NC_000007.14:142752876:G:C p.(Gly201Arg) NC_000007.14:142752876:G:C Identity +NM_001379277.1:c.692G>A NP_001366206.1:p.Arg231His NC_000007.14:92065299:G:A p.(Arg231His) NC_000007.14:92065299:G:A p.(Arg231His) NC_000007.14:92065299:G:A Identity +NM_199420.4:c.6173A>G NP_955452.3:p.Asn2058Ser NC_000003.12:121481609:T:C p.(Asn2058Ser) NC_000003.12:121481609:T:C p.(Asn2058Ser) NC_000003.12:121481609:T:C Identity +NM_198578.4:c.6101G>A NP_940980.4:p.Gly2034Asp NC_000012.12:40340445:G:A p.(Gly2034Asp) NC_000012.12:40340445:G:A p.(Gly2034Asp) NC_000012.12:40340445:G:A Identity +NM_006231.4:c.6119C>A NP_006222.2:p.Ala2040Glu NC_000012.12:132632680:G:T p.(Ala2040Glu) NC_000012.12:132632680:G:T p.(Ala2040Glu) NC_000012.12:132632680:G:T Identity +NM_001407361.1:c.554G>T NP_001394290.1:p.Gly185Val NC_000001.11:17024006:C:A p.(Gly185Val) NC_000001.11:17024006:C:A p.(Gly185Val) NC_000001.11:17024006:C:A Identity +NM_016038.4:c.613C>T NP_057122.2:p.Gln205Ter NC_000007.14:66991147:G:A p.(Gln205Ter) NC_000007.14:66991147:G:A p.(Gln205Ter) NC_000007.14:66991147:G:A Identity +NM_006231.4:c.6214A>C NP_006222.2:p.Lys2072Gln NC_000012.12:132632430:T:G p.(Lys2072Gln) NC_000012.12:132632430:T:G p.(Lys2072Gln) NC_000012.12:132632430:T:G Identity +NM_000059.4:c.625C>G NP_000050.3:p.Leu209Val NC_000013.11:32326606:C:G p.(Leu209Val) NC_000013.11:32326606:C:G p.(Leu209Val) NC_000013.11:32326606:C:G Identity +NM_152594.3:c.121A>T NP_689807.1:p.Ser41Cys NC_000015.10:38299460:A:T p.(Ser41Cys) NC_000015.10:38299460:A:T p.(Ser41Cys) NC_000015.10:38299460:A:T Identity +NM_017802.4:c.619T>C NP_060272.3:p.Ser207Pro NC_000007.14:729685:T:C p.(Ser207Pro) NC_000007.14:729685:T:C p.(Ser207Pro) NC_000007.14:729685:T:C Identity +NM_001142548.2:c.612T>G NP_001136020.1:p.Ser204Arg NC_000001.11:46260860:T:G p.(Ser204Arg) NC_000001.11:46260860:T:G p.(Ser204Arg) NC_000001.11:46260860:T:G Identity +NM_001302959.2:c.437C>G NP_001289888.1:p.Ala146Gly NC_000011.10:67490182:C:G p.(Ala146Gly) NC_000011.10:67490182:C:G p.(Ala146Gly) NC_000011.10:67490182:C:G Identity +NM_001277115.2:c.12166T>A NP_001264044.1:p.Leu4056Met NC_000007.14:21873471:T:A p.(Leu4056Met) NC_000007.14:21873471:T:A p.(Leu4056Met) NC_000007.14:21873471:T:A Identity +NM_001379277.1:c.4843G>A NP_001366206.1:p.Glu1615Lys NC_000007.14:92097156:G:A p.(Glu1615Lys) NC_000007.14:92097156:G:A p.(Glu1615Lys) NC_000007.14:92097156:G:A Identity +NM_001711.6:c.620G>C NP_001702.1:p.Gly207Ala NC_000023.11:153506582:G:C p.(Gly207Ala) NC_000023.11:153506582:G:C p.(Gly207Ala) NC_000023.11:153506582:G:C Identity +NM_003924.4:c.632A>T NP_003915.2:p.Asn211Ile NC_000004.12:41746119:T:A p.(Asn211Ile) NC_000004.12:41746119:T:A p.(Asn211Ile) NC_000004.12:41746119:T:A Identity +NM_001042663.3:c.1330G>A NP_001036128.2:p.Glu444Lys NC_000001.11:6471549:C:T p.(Glu444Lys) NC_000001.11:6471549:C:T p.(Glu444Lys) NC_000001.11:6471549:C:T Identity +NM_199420.4:c.6286A>G NP_955452.3:p.Thr2096Ala NC_000003.12:121476658:T:C p.(Thr2096Ala) NC_000003.12:121476658:T:C p.(Thr2096Ala) NC_000003.12:121476658:T:C Identity +NM_006231.4:c.6275G>C NP_006222.2:p.Gly2092Ala NC_000012.12:132632369:C:G p.(Gly2092Ala) NC_000012.12:132632369:C:G p.(Gly2092Ala) NC_000012.12:132632369:C:G Identity +NM_001317184.2:c.628G>T NP_001304113.1:p.Glu210Ter NC_000016.10:68808788:G:T p.(Glu210Ter) NC_000016.10:68808788:G:T p.(Glu210Ter) NC_000016.10:68808788:G:T Identity +NM_001301339.2:c.121C>T NP_001288268.1:p.Gln41Ter NC_000022.11:23767513:G:A p.(Gln41Ter) NC_000022.11:23767513:G:A p.(Gln41Ter) NC_000022.11:23767513:G:A Identity +NM_001171653.2:c.565_568dup NP_001165124.1:p.Pro190fs NC_000002.12:144404082:GGCAGG:GGCAGGCAGG p.(Pro190LeufsTer26) NC_000002.12:144404082:GGCAGG:GGCAGGCAGG p.(Pro190LeufsTer26) ERR:SPDI Analogous +NM_000249.4:c.629C>G NP_000240.1:p.Ala210Gly NC_000003.12:37012050:C:G p.(Ala210Gly) NC_000003.12:37012050:C:G p.(Ala210Gly) NC_000003.12:37012050:C:G Identity +NM_199420.4:c.634A>G NP_955452.3:p.Met212Val NC_000003.12:121537205:T:C p.(Met212Val) NC_000003.12:121537205:T:C p.(Met212Val) NC_000003.12:121537205:T:C Identity +NM_000118.4:c.630_649del20 NP_000109.1:p.Val212Alafs NC_000009.12:127825729:CGCCTCCTTGTGGCCGGCCACGCCT:CGCCT p.(Val212AlafsTer115) NC_000009.12:127825729:CGCCTCCTTGTGGCCGGCCACGCCT:CGCCT p.(Val212AlafsTer115) NC_000009.12:127825734:CCTTGTGGCCGGCCACGCCT: Analogous +NM_001024688.3:c.387T>G NP_001019859.1:p.Asp129Glu NC_000008.11:89971241:A:C p.(Asp129Glu) NC_000008.11:89971241:A:C p.(Asp129Glu) NC_000008.11:89971241:A:C Identity +NM_001184985.2:c.6370G>A NP_001171914.1:p.Val2124Ile NC_000012.12:896076:G:A p.(Val2124Ile) NC_000012.12:896076:G:A p.(Val2124Ile) NC_000012.12:896076:G:A Identity +NM_012186.3:c.635C>T NP_036318.1:p.Pro212Leu NC_000001.11:47416949:C:T p.(Pro212Leu) NC_000001.11:47416949:C:T p.(Pro212Leu) NC_000001.11:47416949:C:T Identity +NM_001081640.2:c.12121C>T NP_001075109.1:p.Pro4041Ser NC_000008.11:47774345:G:A p.(Pro4041Ser) NC_000008.11:47774345:G:A p.(Pro4041Ser) NC_000008.11:47774345:G:A Identity +NM_001211.6:c.641A>G NP_001202.5:p.Glu214Gly NC_000015.10:40183772:A:G p.(Glu214Gly) NC_000015.10:40183772:A:G p.(Glu214Gly) NC_000015.10:40183772:A:G Identity +NM_001282386.1:c.1223A>G NP_001269315.1:p.Lys408Arg NC_000002.12:208237100:T:C p.(Lys408Arg) NC_000002.12:208237100:T:C p.(Lys408Arg) NC_000002.12:208237100:T:C Identity +NM_000059.4:c.6371A>C NP_000050.3:p.Lys2124Thr NC_000013.11:32340725:A:C p.(Lys2124Thr) NC_000013.11:32340725:A:C p.(Lys2124Thr) NC_000013.11:32340725:A:C Identity +NM_001407041.1:c.1019dup NP_001393970.1:p.Val341Glyfs NC_000018.10:51065484:AA:AAA p.(Val341GlyfsTer11) NC_000018.10:51065484:AA:AAA p.(Val341GlyfsTer11) ERR:SPDI Analogous +NM_001321837.2:c.638G>A NP_001308766.1:p.Arg213Gln NC_000008.11:60222748:C:T p.(Arg213Gln) NC_000008.11:60222748:C:T p.(Arg213Gln) NC_000008.11:60222748:C:T Identity +NM_199420.4:c.6403G>A NP_955452.3:p.Glu2135Lys NC_000003.12:121476541:C:T p.(Glu2135Lys) NC_000003.12:121476541:C:T p.(Glu2135Lys) NC_000003.12:121476541:C:T Identity +NM_052947.4:c.6367A>C NP_443179.3:p.Lys2123Gln NC_000018.10:58481968:T:G p.(Lys2123Gln) NC_000018.10:58481968:T:G p.(Lys2123Gln) NC_000018.10:58481968:T:G Identity +NM_001256850.1:c.86017A>G NP_001243779.1:p.Ser28673Gly NC_000002.12:178551959:T:C p.(Ser28673Gly) NC_000002.12:178551959:T:C p.(Ser28673Gly) NC_000002.12:178551959:T:C Identity +NM_198578.4:c.6399T>G NP_940980.4:p.Asn2133Lys NC_000012.12:40351555:T:G p.(Asn2133Lys) NC_000012.12:40351555:T:G p.(Asn2133Lys) NC_000012.12:40351555:T:G Identity +NM_001287246.2:c.1222A>G NP_001274175.1:p.Arg408Gly NC_000015.10:90760594:A:G p.(Arg408Gly) NC_000015.10:90760594:A:G p.(Arg408Gly) NC_000015.10:90760594:A:G Identity +NM_001378969.1:c.1222C>T NP_001365898.1:p.Arg408Trp NC_000001.11:111786990:G:A p.(Arg408Trp) NC_000001.11:111786990:G:A p.(Arg408Trp) NC_000001.11:111786990:G:A Identity +NM_001080115.2:c.638T>C NP_001073584.1:p.Met213Thr NC_000010.11:86681751:T:C p.(Met213Thr) NC_000010.11:86681751:T:C p.(Met213Thr) NC_000010.11:86681751:T:C Identity +NM_000118.4:c.60delC NP_000109.1:p.Thr22Glnfs NC_000009.12:127854292:GGGG:GGG p.(Thr22GlnfsTer21) NC_000009.12:127854292:GGGG:GGG p.(Thr22GlnfsTer21) NC_000009.12:127854295:G: Analogous +NM_199420.4:c.6436A>G NP_955452.3:p.Asn2146Asp NC_000003.12:121473456:T:C p.(Asn2146Asp) NC_000003.12:121473456:T:C p.(Asn2146Asp) NC_000003.12:121473456:T:C Identity +NM_001195227.2:c.648C>A NP_001182156.1:p.Asp216Glu NC_000019.10:49168587:C:A p.(Asp216Glu) NC_000019.10:49168587:C:A p.(Asp216Glu) NC_000019.10:49168587:C:A Identity +NM_001127487.2:c.6419G>A NP_001120959.1:p.Arg2140His NC_000007.14:128854006:G:A p.(Arg2140His) NC_000007.14:128854006:G:A p.(Arg2140His) NC_000007.14:128854006:G:A Identity +NM_001365276.2:c.6518G>C NP_001352205.1:p.Gly2173Ala NC_000006.12:32067686:C:G p.(Gly2173Ala) NC_000006.12:32067686:C:G p.(Gly2173Ala) NC_000006.12:32067686:C:G Identity +NM_001321307.1:c.644C>G NP_001308236.1:p.Ser215Cys NC_000011.10:108186563:G:C p.(Ser215Cys) NC_000011.10:108186563:G:C p.(Ser215Cys) NC_000011.10:108186563:G:C Identity +NM_001110556.2:c.1019G>C NP_001104026.1:p.Arg340Pro NC_000023.11:154366607:C:G p.(Arg340Pro) NC_000023.11:154366607:C:G p.(Arg340Pro) NC_000023.11:154366607:C:G Identity +NM_001184.4:c.6475G>T NP_001175.2:p.Val2159Phe NC_000003.12:142469413:C:A p.(Val2159Phe) NC_000003.12:142469413:C:A p.(Val2159Phe) NC_000003.12:142469413:C:A Identity +NM_024642.5:c.647C>T NP_078918.3:p.Ala216Val NC_000009.12:98826856:C:T p.(Ala216Val) NC_000009.12:98826856:C:T p.(Ala216Val) NC_000009.12:98826856:C:T Identity +NM_001365951.3:c.647G>A NP_001352880.1:p.Arg216His NC_000001.11:10268189:G:A p.(Arg216His) NC_000001.11:10268189:G:A p.(Arg216His) NC_000001.11:10268189:G:A Identity +NM_017890.5:c.6487C>T NP_060360.3:p.Leu2163Phe NC_000008.11:99699889:C:T p.(Leu2163Phe) NC_000008.11:99699889:C:T p.(Leu2163Phe) NC_000008.11:99699889:C:T Identity +NM_000455.5:c.653C>G NP_000446.1:p.Ala218Gly NC_000019.10:1220635:C:G p.(Ala218Gly) NC_000019.10:1220635:C:G p.(Ala218Gly) NC_000019.10:1220635:C:G Identity +NM_000214.3:c.651C>A NP_000205.1:p.Asn217Lys NC_000020.11:10658510:G:T p.(Asn217Lys) NC_000020.11:10658510:G:T p.(Asn217Lys) NC_000020.11:10658510:G:T Identity +NM_199420.4:c.6521G>A NP_955452.3:p.Gly2174Glu NC_000003.12:121473371:C:T p.(Gly2174Glu) NC_000003.12:121473371:C:T p.(Gly2174Glu) NC_000003.12:121473371:C:T Identity +NM_024642.5:c.1225del NP_078918.3:p.Asp409fs NC_000009.12:98840010:GGGG:GGG p.(Asp409MetfsTer2) NC_000009.12:98840010:GGGG:GGG p.(Asp409MetfsTer2) NC_000009.12:98840013:G: Analogous +NM_001039550.2:c.64G>C NP_001034639.1:p.Ala22Pro NC_000002.12:219279896:G:C p.(Ala22Pro) NC_000002.12:219279896:G:C p.(Ala22Pro) NC_000002.12:219279896:G:C Identity +NM_001363813.1:c.1224G>C NP_001350742.1:p.Glu408Asp NC_000017.11:65537811:C:G p.(Glu408Asp) NC_000017.11:65537811:C:G p.(Glu408Asp) NC_000017.11:65537811:C:G Identity +NM_001278616.2:c.590C>T NP_001265545.1:p.Ser197Leu NC_000002.12:110667675:G:A p.(Ser197Leu) NC_000002.12:110667675:G:A p.(Ser197Leu) NC_000002.12:110667675:G:A Identity +NM_001256850.1:c.87688G>A NP_001243779.1:p.Val29230Met NC_000002.12:178549014:C:T p.(Val29230Met) NC_000002.12:178549014:C:T p.(Val29230Met) NC_000002.12:178549014:C:T Identity +NM_003280.3:c.65C>T NP_003271.1:p.Ala22Val NC_000003.12:52452242:G:A p.(Ala22Val) NC_000003.12:52452242:G:A p.(Ala22Val) NC_000003.12:52452242:G:A Identity +NM_001081640.2:c.1226A>G NP_001075109.1:p.Gln409Arg NC_000008.11:47936404:T:C p.(Gln409Arg) NC_000008.11:47936404:T:C p.(Gln409Arg) NC_000008.11:47936404:T:C Identity +NM_000202.8:c.657C>A NP_000193.1:p.Phe219Leu NC_000023.11:149498157:G:T p.(Phe219Leu) NC_000023.11:149498157:G:T p.(Phe219Leu) NC_000023.11:149498157:G:T Identity +NM_001184.4:c.6587A>G NP_001175.2:p.Glu2196Gly NC_000003.12:142468033:T:C p.(Glu2196Gly) NC_000003.12:142468033:T:C p.(Glu2196Gly) NC_000003.12:142468033:T:C Identity +NM_001256850.1:c.6832G>T NP_001243779.1:p.Val2278Phe NC_000002.12:178774431:C:A p.(Val2278Phe) NC_000002.12:178774431:C:A p.(Val2278Phe) NC_000002.12:178774431:C:A Identity +NM_001130144.3:c.665A>C NP_001123616.1:p.Gln222Pro NC_000011.10:65553899:T:G p.(Gln222Pro) NC_000011.10:65553899:T:G p.(Gln222Pro) NC_000011.10:65553899:T:G Identity +NM_006231.4:c.6623A>G NP_006222.2:p.Gln2208Arg NC_000012.12:132625678:T:C p.(Gln2208Arg) NC_000012.12:132625678:T:C p.(Gln2208Arg) NC_000012.12:132625678:T:C Identity +NM_000238.4:c.663C>A NP_000229.1:p.His221Gln NC_000007.14:150958311:G:T p.(His221Gln) NC_000007.14:150958311:G:T p.(His221Gln) NC_000007.14:150958311:G:T Identity +NM_017617.5:c.6769G>T NP_060087.3:p.Ala2257Ser NC_000009.12:136496969:C:A p.(Ala2257Ser) NC_000009.12:136496969:C:A p.(Ala2257Ser) NC_000009.12:136496969:C:A Identity +NM_001369.3:c.6796G>T NP_001360.1:p.Ala2266Ser NC_000005.10:13820390:C:A p.(Ala2266Ser) NC_000005.10:13820390:C:A p.(Ala2266Ser) NC_000005.10:13820390:C:A Identity +NM_000059.4:c.6590C>T NP_000050.3:p.Thr2197Ile NC_000013.11:32340944:C:T p.(Thr2197Ile) NC_000013.11:32340944:C:T p.(Thr2197Ile) NC_000013.11:32340944:C:T Identity +NM_000059.4:c.6592G>C NP_000050.3:p.Glu2198Gln NC_000013.11:32340946:G:C p.(Glu2198Gln) NC_000013.11:32340946:G:C p.(Glu2198Gln) NC_000013.11:32340946:G:C Identity +NM_018975.4:c.659C>T NP_061848.2:p.Ala220Val NC_000016.10:75648540:C:T p.(Ala220Val) NC_000016.10:75648540:C:T p.(Ala220Val) NC_000016.10:75648540:C:T Identity +NM_001346599.2:c.428A>G NP_001333528.1:p.His143Arg NC_000007.14:105547055:A:G p.(His143Arg) NC_000007.14:105547055:A:G p.(His143Arg) NC_000007.14:105547055:A:G Identity +NM_001008211.1:c.1229T>C NP_001008212.1:p.Leu410Pro NC_000010.11:13126025:T:C p.(Leu410Pro) NC_000010.11:13126025:T:C p.(Leu410Pro) NC_000010.11:13126025:T:C Identity +NM_000400.4:c.673C>G NP_000391.1:p.Leu225Val NC_000019.10:45364468:G:C p.(Leu225Val) NC_000019.10:45364468:G:C p.(Leu225Val) NC_000019.10:45364468:G:C Identity +NM_002439.5:c.122del NP_002430.3:p.Thr41fs NC_000005.10:80654848:C: p.(Thr41LysfsTer39) NC_000005.10:80654848:C: p.(Thr41LysfsTer39) NC_000005.10:80654848:C: Analogous +NM_002907.4:c.674G>A NP_002898.2:p.Ser225Asn NC_000012.12:21483401:C:T p.(Ser225Asn) NC_000012.12:21483401:C:T p.(Ser225Asn) NC_000012.12:21483401:C:T Identity +NM_199420.4:c.6722G>A NP_955452.3:p.Arg2241Gln NC_000003.12:121468427:C:T p.(Arg2241Gln) NC_000003.12:121468427:C:T p.(Arg2241Gln) NC_000003.12:121468427:C:T Identity +NM_000323.2:c.122A>T NP_000314.1:p.Tyr41Phe NC_000010.11:43100506:A:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001081640.2:c.6637A>C NP_001075109.1:p.Asn2213His NC_000008.11:47855345:T:G p.(Asn2213His) NC_000008.11:47855345:T:G p.(Asn2213His) NC_000008.11:47855345:T:G Identity +NM_199420.4:c.6647G>A NP_955452.3:p.Arg2216Gln NC_000003.12:121472060:C:T p.(Arg2216Gln) NC_000003.12:121472060:C:T p.(Arg2216Gln) NC_000003.12:121472060:C:T Identity +NM_000251.3:c.676G>T NP_000242.1:p.Glu226Ter NC_000002.12:47412443:G:T p.(Glu226Ter) NC_000002.12:47412443:G:T p.(Glu226Ter) NC_000002.12:47412443:G:T Identity +NM_001128844.3:c.101C>T NP_001122316.1:p.Pro34Leu NC_000019.10:10984251:C:T p.(Pro34Leu) NC_000019.10:10984251:C:T p.(Pro34Leu) NC_000019.10:10984251:C:T Identity +NM_002769.5:c.680G>A NP_002760.1:p.Gly227Glu NC_000007.14:142752955:G:A p.(Gly227Glu) NC_000007.14:142752955:G:A p.(Gly227Glu) NC_000007.14:142752955:G:A Identity +NM_004949.5:c.68C>T NP_004940.1:p.Ala23Val NC_000018.10:31101903:G:A p.(Ala23Val) NC_000018.10:31101903:G:A p.(Ala23Val) NC_000018.10:31101903:G:A Identity +NM_001098623.2:c.6916C>T NP_001092093.2:p.Arg2306Cys NC_000001.11:228278744:C:T p.(Arg2306Cys) NC_000001.11:228278744:C:T p.(Arg2306Cys) NC_000001.11:228278744:C:T Identity +NM_199420.4:c.6782C>T NP_955452.3:p.Pro2261Leu NC_000003.12:121468367:G:A p.(Pro2261Leu) NC_000003.12:121468367:G:A p.(Pro2261Leu) NC_000003.12:121468367:G:A Identity +NM_001195573.1:c.1229T>C NP_001182502.1:p.Val410Ala NC_000014.9:95124342:A:G p.(Val410Ala) NC_000014.9:95124342:A:G p.(Val410Ala) NC_000014.9:95124342:A:G Identity +NM_000251.3:c.1232T>G NP_000242.1:p.Ile411Arg NC_000002.12:47429896:T:G p.(Ile411Arg) NC_000002.12:47429896:T:G p.(Ile411Arg) NC_000002.12:47429896:T:G Identity +NM_000179.3:c.1234A>T NP_000170.1:p.Lys412Ter NC_000002.12:47799216:A:T p.(Lys412Ter) NC_000002.12:47799216:A:T p.(Lys412Ter) NC_000002.12:47799216:A:T Identity +NM_000903.3:c.697T>C NP_000894.1:p.Phe233Leu NC_000016.10:69711103:A:G p.(Phe233Leu) NC_000016.10:69711103:A:G p.(Phe233Leu) NC_000016.10:69711103:A:G Identity +NM_003924.4:c.680C>T NP_003915.2:p.Ala227Val NC_000004.12:41746071:G:A p.(Ala227Val) NC_000004.12:41746071:G:A p.(Ala227Val) NC_000004.12:41746071:G:A Identity +NM_001346599.2:c.998A>G NP_001333528.1:p.Glu333Gly NC_000007.14:105550384:A:G p.(Glu333Gly) NC_000007.14:105550384:A:G p.(Glu333Gly) NC_000007.14:105550384:A:G Identity +NM_198578.4:c.6874A>C NP_940980.4:p.Asn2292His NC_000012.12:40359289:A:C p.(Asn2292His) NC_000012.12:40359289:A:C p.(Asn2292His) NC_000012.12:40359289:A:C Identity +NM_199420.4:c.6787C>A NP_955452.3:p.Leu2263Ile NC_000003.12:121468362:G:T p.(Leu2263Ile) NC_000003.12:121468362:G:T p.(Leu2263Ile) NC_000003.12:121468362:G:T Identity +NM_052947.4:c.689G>A NP_443179.3:p.Cys230Tyr NC_000018.10:58580086:C:T p.(Cys230Tyr) NC_000018.10:58580086:C:T p.(Cys230Tyr) NC_000018.10:58580086:C:T Identity +NM_001193341.2:c.745G>A NP_001180270.1:p.Glu249Lys NC_000006.12:43670810:G:A p.(Glu249Lys) NC_000006.12:43670810:G:A p.(Glu249Lys) NC_000006.12:43670810:G:A Identity +NM_001081640.2:c.1234A>G NP_001075109.1:p.Ser412Gly NC_000008.11:47936396:T:C p.(Ser412Gly) NC_000008.11:47936396:T:C p.(Ser412Gly) NC_000008.11:47936396:T:C Identity +NM_024642.5:c.705A>C NP_078918.3:p.Glu235Asp NC_000009.12:98826914:A:C p.(Glu235Asp) NC_000009.12:98826914:A:C p.(Glu235Asp) NC_000009.12:98826914:A:C Identity +NM_001256850.1:c.91162G>A NP_001243779.1:p.Gly30388Arg NC_000002.12:178544058:C:T p.(Gly30388Arg) NC_000002.12:178544058:C:T p.(Gly30388Arg) NC_000002.12:178544058:C:T Identity +NM_001369.3:c.6898C>T NP_001360.1:p.Gln2300Ter NC_000005.10:13817637:G:A p.(Gln2300Ter) NC_000005.10:13817637:G:A p.(Gln2300Ter) NC_000005.10:13817637:G:A Identity +NM_001379104.1:c.689C>T NP_001366033.1:p.Ser230Phe NC_000004.12:120816885:G:A p.(Ser230Phe) NC_000004.12:120816885:G:A p.(Ser230Phe) NC_000004.12:120816885:G:A Identity +NM_001256850.1:c.91757_91761del NP_001243779.1:p.Leu30586fs NC_000002.12:178543288:GTAGAGT:GT p.(Leu30586ArgfsTer4) NC_000002.12:178543288:GTAGAGT:GT p.(Leu30586ArgfsTer4) NC_000002.12:178543288:GTAGA: Analogous +NM_015141.4:c.700C>T NP_055956.1:p.Leu234Phe NC_000003.12:32158956:C:T p.(Leu234Phe) NC_000003.12:32158956:C:T p.(Leu234Phe) NC_000003.12:32158956:C:T Identity +NM_053025.4:c.70G>T NP_444253.3:p.Val24Phe NC_000003.12:123793771:C:A p.(Val24Phe) NC_000003.12:123793771:C:A p.(Val24Phe) NC_000003.12:123793771:C:A Identity +NM_001256850.1:c.93396T>G NP_001243779.1:p.Tyr31132Ter NC_000002.12:178539745:A:C p.(Tyr31132Ter) NC_000002.12:178539745:A:C p.(Tyr31132Ter) NC_000002.12:178539745:A:C Identity +NM_001110556.2:c.7136A>C NP_001104026.1:p.Tyr2379Ser NC_000023.11:154350928:T:G p.(Tyr2379Ser) NC_000023.11:154350928:T:G p.(Tyr2379Ser) NC_000023.11:154350928:T:G Identity +NM_001081640.2:c.12247C>T NP_001075109.1:p.Pro4083Ser NC_000008.11:47774219:G:A p.(Pro4083Ser) NC_000008.11:47774219:G:A p.(Pro4083Ser) NC_000008.11:47774219:G:A Identity +NM_005732.4:c.698A>C NP_005723.2:p.Gln233Pro NC_000005.10:132580007:A:C p.(Gln233Pro) NC_000005.10:132580007:A:C p.(Gln233Pro) NC_000005.10:132580007:A:C Identity +NM_001321307.1:c.701A>T NP_001308236.1:p.Asp234Val NC_000011.10:108186506:T:A p.(Asp234Val) NC_000011.10:108186506:T:A p.(Asp234Val) NC_000011.10:108186506:T:A Identity +NM_001253815.2:c.689G>A NP_001240744.1:p.Gly230Glu NC_000008.11:144360180:G:A p.(Gly230Glu) NC_000008.11:144360180:G:A p.(Gly230Glu) NC_000008.11:144360180:G:A Identity +NM_001191323.2:c.68A>T NP_001178252.1:p.Glu23Val NC_000015.10:32730757:A:T p.(Glu23Val) NC_000015.10:32730757:A:T p.(Glu23Val) NC_000015.10:32730757:A:T Identity +NM_000038.6:c.6902G>C NP_000029.2:p.Arg2301Thr NC_000005.10:112842495:G:C p.(Arg2301Thr) NC_000005.10:112842495:G:C p.(Arg2301Thr) NC_000005.10:112842495:G:C Identity +NM_001098623.2:c.706C>T NP_001092093.2:p.Pro236Ser NC_000001.11:228212488:C:T p.(Pro236Ser) NC_000001.11:228212488:C:T p.(Pro236Ser) NC_000001.11:228212488:C:T Identity +LRG_327t1:c.7084A>G LRG_327p1:p.Lys2362Glu NC_000004.12:113355701:A:G ERR:Data provider error: ValueError: Transcript LRG_327t1 not found ERR:Data provider error: ValueError: Transcript LRG_327t1 not found ERR:AlignmentMapper(tx_ac=LRG_327t1, alt_ac=LRG_327t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_327t1, alt_ac=LRG_327t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_327t1 not found +NM_000489.6:c.7157G>A NP_000480.3:p.Arg2386Gln NC_000023.11:77520830:C:T p.(Arg2386Gln) NC_000023.11:77520830:C:T p.(Arg2386Gln) NC_000023.11:77520830:C:T Identity +NM_001365999.1:c.7352C>T NP_001352928.1:p.Thr2451Ile NC_000001.11:43441220:C:T p.(Thr2451Ile) NC_000001.11:43441220:C:T p.(Thr2451Ile) NC_000001.11:43441220:C:T Identity +NM_053046.4:c.719T>C NP_444274.1:p.Ile240Thr NC_000019.10:40801290:T:C p.(Ile240Thr) NC_000019.10:40801290:T:C p.(Ile240Thr) NC_000019.10:40801290:T:C Identity +NM_000381.4:c.702C>G NP_000372.1:p.Asn234Lys NC_000023.11:10523145:G:C p.(Asn234Lys) NC_000023.11:10523145:G:C p.(Asn234Lys) NC_000023.11:10523145:G:C Identity +NM_001193304.3:c.700C>T NP_001180233.1:p.Pro234Ser NC_000002.12:96253824:G:A p.(Pro234Ser) NC_000002.12:96253824:G:A p.(Pro234Ser) NC_000002.12:96253824:G:A Identity +NM_002769.5:c.701A>T NP_002760.1:p.Asn234Ile NC_000007.14:142752976:A:T p.(Asn234Ile) NC_000007.14:142752976:A:T p.(Asn234Ile) NC_000007.14:142752976:A:T Identity +NM_006767.4:c.712G>C NP_006758.2:p.Asp238His NC_000022.11:20990445:G:C p.(Asp238His) NC_000022.11:20990445:G:C p.(Asp238His) NC_000022.11:20990445:G:C Identity +NM_000214.3:c.1238C>T NP_000205.1:p.Ala413Val NC_000020.11:10649631:G:A p.(Ala413Val) NC_000020.11:10649631:G:A p.(Ala413Val) NC_000020.11:10649631:G:A Identity +NM_000492.4:c.727A>G NP_000483.3:p.Met243Val NC_000007.14:117535394:A:G p.(Met243Val) NC_000007.14:117535394:A:G p.(Met243Val) NC_000007.14:117535394:A:G Identity +NM_001407361.1:c.673T>C NP_001394290.1:p.Cys225Arg NC_000001.11:17022645:A:G p.(Cys225Arg) NC_000001.11:17022645:A:G p.(Cys225Arg) NC_000001.11:17022645:A:G Identity +NM_001367624.2:c.713C>T NP_001354553.1:p.Ala238Val NC_000016.10:88428182:C:T p.(Ala238Val) NC_000016.10:88428182:C:T p.(Ala238Val) NC_000016.10:88428182:C:T Identity +NM_198578.4:c.7063A>G NP_940980.4:p.Ile2355Val NC_000012.12:40363435:A:G p.(Ile2355Val) NC_000012.12:40363435:A:G p.(Ile2355Val) NC_000012.12:40363435:A:G Identity +NM_001148.6:c.7064C>A NP_001139.3:p.Thr2355Asn NC_000004.12:113355681:C:A p.(Thr2355Asn) NC_000004.12:113355681:C:A p.(Thr2355Asn) NC_000004.12:113355681:C:A Identity +NM_001868.4:c.706T>C NP_001859.1:p.Trp236Arg NC_000007.14:130384544:T:C p.(Trp236Arg) NC_000007.14:130384544:T:C p.(Trp236Arg) NC_000007.14:130384544:T:C Identity +NM_001256850.1:c.93016T>C NP_001243779.1:p.Trp31006Arg NC_000002.12:178540226:A:G p.(Trp31006Arg) NC_000002.12:178540226:A:G p.(Trp31006Arg) NC_000002.12:178540226:A:G Identity +NM_001098623.2:c.7180G>A NP_001092093.2:p.Ala2394Thr NC_000001.11:228279227:G:A p.(Ala2394Thr) NC_000001.11:228279227:G:A p.(Ala2394Thr) NC_000001.11:228279227:G:A Identity +NM_000038.6:c.7292G>T NP_000029.2:p.Arg2431Ile NC_000005.10:112842885:G:T p.(Arg2431Ile) NC_000005.10:112842885:G:T p.(Arg2431Ile) NC_000005.10:112842885:G:T Identity +NM_001369.3:c.7309C>T NP_001360.1:p.Arg2437Cys NC_000005.10:13811744:G:A p.(Arg2437Cys) NC_000005.10:13811744:G:A p.(Arg2437Cys) NC_000005.10:13811744:G:A Identity +NM_001170629.2:c.731C>T NP_001164100.1:p.Pro244Leu NC_000014.9:21430912:G:A p.(Pro244Leu) NC_000014.9:21430912:G:A p.(Pro244Leu) NC_000014.9:21430912:G:A Identity +NM_001407297.1:c.72G>T NP_001394226.1:p.Leu24Phe NC_000016.10:23638105:C:A p.(Leu24Phe) NC_000016.10:23638105:C:A p.(Leu24Phe) NC_000016.10:23638105:C:A Identity +NM_001367624.2:c.7268C>G NP_001354553.1:p.Pro2423Arg NC_000016.10:88434737:C:G p.(Pro2423Arg) NC_000016.10:88434737:C:G p.(Pro2423Arg) NC_000016.10:88434737:C:G Identity +NM_002907.4:c.718A>G NP_002898.2:p.Ile240Val NC_000012.12:21477951:T:C p.(Ile240Val) NC_000012.12:21477951:T:C p.(Ile240Val) NC_000012.12:21477951:T:C Identity +NM_001007793.3:c.719T>C NP_001007794.1:p.Ile240Thr NC_000010.11:123162377:T:C p.(Ile240Thr) NC_000010.11:123162377:T:C p.(Ile240Thr) NC_000010.11:123162377:T:C Identity +NM_000724.4:c.1234C>G NP_000715.2:p.Pro412Ala NC_000010.11:18538275:C:G p.(Pro412Ala) NC_000010.11:18538275:C:G p.(Pro412Ala) NC_000010.11:18538275:C:G Identity +NM_012282.4:c.70G>C NP_036414.1:p.Gly24Arg NC_000023.11:109624950:C:G p.(Gly24Arg) NC_000023.11:109624950:C:G p.(Gly24Arg) NC_000023.11:109624950:C:G Identity +NM_000179.3:c.70T>C NP_000170.1:p.Ser24Pro NC_000002.12:47783302:T:C p.(Ser24Pro) NC_000002.12:47783302:T:C p.(Ser24Pro) NC_000002.12:47783302:T:C Identity +NM_001290307.3:c.714G>C NP_001277236.1:p.Lys238Asn NC_000005.10:138824654:G:C p.(Lys238Asn) NC_000005.10:138824654:G:C p.(Lys238Asn) NC_000005.10:138824654:G:C Identity +NM_000059.4:c.7334G>C NP_000050.3:p.Ser2445Thr NC_000013.11:32355186:G:C p.(Ser2445Thr) NC_000013.11:32355186:G:C p.(Ser2445Thr) NC_000013.11:32355186:G:C Identity +NM_000268.4:c.733G>T NP_000259.1:p.Asp245Tyr NC_000022.11:29661261:G:T p.(Asp245Tyr) NC_000022.11:29661261:G:T p.(Asp245Tyr) NC_000022.11:29661261:G:T Identity +NM_002439.5:c.734A>G NP_002430.3:p.Asp245Gly NC_000005.10:80670250:A:G p.(Asp245Gly) NC_000005.10:80670250:A:G p.(Asp245Gly) NC_000005.10:80670250:A:G Identity +NM_001305005.3:c.737T>C NP_001291934.1:p.Leu246Ser NC_000002.12:108002035:T:C p.(Leu246Ser) NC_000002.12:108002035:T:C p.(Leu246Ser) NC_000002.12:108002035:T:C Identity +NM_001008844.3:c.5452G>A NP_001008844.1:p.Asp1818Asn NC_000006.12:7584510:G:A p.(Asp1818Asn) NC_000006.12:7584510:G:A p.(Asp1818Asn) NC_000006.12:7584510:G:A Identity +NM_001184.4:c.7274G>T NP_001175.2:p.Arg2425Leu NC_000003.12:142459301:C:A p.(Arg2425Leu) NC_000003.12:142459301:C:A p.(Arg2425Leu) NC_000003.12:142459301:C:A Identity +NM_198578.4:c.7430G>C NP_940980.4:p.Arg2477Pro NC_000012.12:40367044:G:C p.(Arg2477Pro) NC_000012.12:40367044:G:C p.(Arg2477Pro) NC_000012.12:40367044:G:C Identity +NM_001098623.2:c.12445G>A NP_001092093.2:p.Ala4149Thr NC_000001.11:228307509:G:A p.(Ala4149Thr) NC_000001.11:228307509:G:A p.(Ala4149Thr) NC_000001.11:228307509:G:A Identity +NM_000249.4:c.746C>T NP_000240.1:p.Ala249Val NC_000003.12:37014499:C:T p.(Ala249Val) NC_000003.12:37014499:C:T p.(Ala249Val) NC_000003.12:37014499:C:T Identity +NM_001135599.4:c.73A>C NP_001129071.1:p.Ser25Arg NC_000001.11:218346773:A:C p.(Ser25Arg) NC_000001.11:218346773:A:C p.(Ser25Arg) NC_000001.11:218346773:A:C Identity +NM_000245.4:c.73G>A NP_000236.2:p.Glu25Lys NC_000007.14:116699156:G:A p.(Glu25Lys) NC_000007.14:116699156:G:A p.(Glu25Lys) NC_000007.14:116699156:G:A Identity +NM_001166108.2:c.741G>C NP_001159580.1:p.Gln247His NC_000004.12:168512244:G:C p.(Gln247His) NC_000004.12:168512244:G:C p.(Gln247His) NC_000004.12:168512244:G:C Identity +NM_001184.4:c.732T>G NP_001175.2:p.Ile244Met NC_000003.12:142562669:A:C p.(Ile244Met) NC_000003.12:142562669:A:C p.(Ile244Met) NC_000003.12:142562669:A:C Identity +NM_000400.4:c.744C>G NP_000391.1:p.Ser248Arg NC_000019.10:45364305:G:C p.(Ser248Arg) NC_000019.10:45364305:G:C p.(Ser248Arg) NC_000019.10:45364305:G:C Identity +NM_020433.5:c.1243G>T NP_065166.2:p.Ala415Ser NC_000020.11:44118549:C:A p.(Ala415Ser) NC_000020.11:44118549:C:A p.(Ala415Ser) NC_000020.11:44118549:C:A Identity +NM_001379200.1:c.100G>A NP_001366129.1:p.Gly34Arg NC_000022.11:19760942:G:A p.(Gly34Arg) NC_000022.11:19760942:G:A p.(Gly34Arg) NC_000022.11:19760942:G:A Identity +NM_199420.4:c.1243T>G NP_955452.3:p.Phe415Val NC_000003.12:121522014:A:C p.(Phe415Val) NC_000003.12:121522014:A:C p.(Phe415Val) NC_000003.12:121522014:A:C Identity +NM_001353229.2:c.1300A>C NP_001340158.1:p.Asn434His NC_000017.11:17216433:T:G p.(Asn434His) NC_000017.11:17216433:T:G p.(Asn434His) NC_000017.11:17216433:T:G Identity +NM_001282403.2:c.632A>G NP_001269332.1:p.Tyr211Cys NC_000007.14:76064825:A:G p.(Tyr211Cys) NC_000007.14:76064825:A:G p.(Tyr211Cys) NC_000007.14:76064825:A:G Identity +NM_001127384.3:c.1246G>A NP_001120856.1:p.Ala416Thr NC_000010.11:66766298:C:T p.(Ala416Thr) NC_000010.11:66766298:C:T p.(Ala416Thr) NC_000010.11:66766298:C:T Identity +NM_001014431.2:c.1246G>A NP_001014431.1:p.Val416Met NC_000014.9:104772378:C:T p.(Val416Met) NC_000014.9:104772378:C:T p.(Val416Met) NC_000014.9:104772378:C:T Identity +NM_001282386.1:c.727A>C NP_001269315.1:p.Lys243Gln NC_000002.12:208242116:T:G p.(Lys243Gln) NC_000002.12:208242116:T:G p.(Lys243Gln) NC_000002.12:208242116:T:G Identity +NM_001014431.2:c.728G>A NP_001014431.1:p.Arg243His NC_000014.9:104773554:C:T p.(Arg243His) NC_000014.9:104773554:C:T p.(Arg243His) NC_000014.9:104773554:C:T Identity +NM_199420.4:c.7618G>A NP_955452.3:p.Asp2540Asn NC_000003.12:121432958:C:T p.(Asp2540Asn) NC_000003.12:121432958:C:T p.(Asp2540Asn) NC_000003.12:121432958:C:T Identity +NM_058216.3:c.764T>G NP_478123.1:p.Leu255Arg NC_000017.11:58709916:T:G p.(Leu255Arg) NC_000017.11:58709916:T:G p.(Leu255Arg) NC_000017.11:58709916:T:G Identity +NM_052947.4:c.767G>C NP_443179.3:p.Gly256Ala NC_000018.10:58580008:C:G p.(Gly256Ala) NC_000018.10:58580008:C:G p.(Gly256Ala) NC_000018.10:58580008:C:G Identity +NM_001098623.2:c.7687C>G NP_001092093.2:p.Pro2563Ala NC_000001.11:228280201:C:G p.(Pro2563Ala) NC_000001.11:228280201:C:G p.(Pro2563Ala) NC_000001.11:228280201:C:G Identity +NM_001184.4:c.7500T>A NP_001175.2:p.Asn2500Lys NC_000003.12:142458960:A:T p.(Asn2500Lys) NC_000003.12:142458960:A:T p.(Asn2500Lys) NC_000003.12:142458960:A:T Identity +NM_000138.5:c.7507A>C NP_000129.3:p.Thr2503Pro NC_000015.10:48422014:T:G p.(Thr2503Pro) NC_000015.10:48422014:T:G p.(Thr2503Pro) NC_000015.10:48422014:T:G Identity +NM_000251.3:c.757A>T NP_000242.1:p.Met253Leu NC_000002.12:47412524:A:T p.(Met253Leu) NC_000002.12:47412524:A:T p.(Met253Leu) NC_000002.12:47412524:A:T Identity +NM_001868.4:c.756C>A NP_001859.1:p.Asp252Glu NC_000007.14:130384594:C:A p.(Asp252Glu) NC_000007.14:130384594:C:A p.(Asp252Glu) NC_000007.14:130384594:C:A Identity +NM_000075.4:c.757G>A NP_000066.1:p.Gly253Arg NC_000012.12:57749243:C:T p.(Gly253Arg) NC_000012.12:57749243:C:T p.(Gly253Arg) NC_000012.12:57749243:C:T Identity +NM_005732.4:c.75C>G NP_005723.2:p.Ile25Met NC_000005.10:132557398:C:G p.(Ile25Met) NC_000005.10:132557398:C:G p.(Ile25Met) NC_000005.10:132557398:C:G Identity +NM_001277115.2:c.7604G>A NP_001264044.1:p.Arg2535His NC_000007.14:21735802:G:A p.(Arg2535His) NC_000007.14:21735802:G:A p.(Arg2535His) NC_000007.14:21735802:G:A Identity +NM_001321307.1:c.732G>A NP_001308236.1:p.Met244Ile NC_000011.10:108185488:C:T p.(Met244Ile) NC_000011.10:108185488:C:T p.(Met244Ile) NC_000011.10:108185488:C:T Identity +NM_001377260.1:c.733A>G NP_001364189.1:p.Ser245Gly NC_000001.11:231421155:T:C p.(Ser245Gly) NC_000001.11:231421155:T:C p.(Ser245Gly) NC_000001.11:231421155:T:C Identity +NM_000179.3:c.734T>G NP_000170.1:p.Ile245Arg NC_000002.12:47798716:T:G p.(Ile245Arg) NC_000002.12:47798716:T:G p.(Ile245Arg) NC_000002.12:47798716:T:G Identity +NM_001003652.4:c.776A>G NP_001003652.1:p.His259Arg NC_000018.10:47851281:T:C p.(His259Arg) NC_000018.10:47851281:T:C p.(His259Arg) NC_000018.10:47851281:T:C Identity +NM_001170634.1:c.760G>T NP_001164105.1:p.Gly254Cys NC_000016.10:31185177:G:T p.(Gly254Cys) NC_000016.10:31185177:G:T p.(Gly254Cys) NC_000016.10:31185177:G:T Identity +NM_000138.5:c.7637G>A NP_000129.3:p.Gly2546Glu NC_000015.10:48421619:C:T p.(Gly2546Glu) NC_000015.10:48421619:C:T p.(Gly2546Glu) NC_000015.10:48421619:C:T Identity +NM_000535.7:c.767G>A NP_000526.2:p.Gly256Asp NC_000007.14:5997361:C:T p.(Gly256Asp) NC_000007.14:5997361:C:T p.(Gly256Asp) NC_000007.14:5997361:C:T Identity +NM_001302959.2:c.563A>T NP_001289888.1:p.Tyr188Phe NC_000011.10:67490409:A:T p.(Tyr188Phe) NC_000011.10:67490409:A:T p.(Tyr188Phe) NC_000011.10:67490409:A:T Identity +NM_001142548.2:c.1250C>G NP_001136020.1:p.Thr417Arg NC_000001.11:46272676:C:G p.(Thr417Arg) NC_000001.11:46272676:C:G p.(Thr417Arg) NC_000001.11:46272676:C:G Identity +NM_000249.4:c.778C>A NP_000240.1:p.Leu260Ile NC_000003.12:37014531:C:A p.(Leu260Ile) NC_000003.12:37014531:C:A p.(Leu260Ile) NC_000003.12:37014531:C:A Identity +NM_001353229.2:c.820A>G NP_001340158.1:p.Thr274Ala NC_000017.11:17222513:T:C p.(Thr274Ala) NC_000017.11:17222513:T:C p.(Thr274Ala) NC_000017.11:17222513:T:C Identity +NM_001303245.3:c.768C>G NP_001290174.1:p.Asp256Glu NC_000003.12:141559899:C:G p.(Asp256Glu) NC_000003.12:141559899:C:G p.(Asp256Glu) NC_000003.12:141559899:C:G Identity +NM_001379277.1:c.2143A>G NP_001366206.1:p.Arg715Gly NC_000007.14:92079630:A:G p.(Arg715Gly) NC_000007.14:92079630:A:G p.(Arg715Gly) NC_000007.14:92079630:A:G Identity +NM_001256850.1:c.99582ACT[1] NP_001243779.1:p.Leu33196del NC_000002.12:178532104:AGTAGT:AGT p.(Leu33196del) NC_000002.12:178532109:T:AGT ERR:Parse ERR:Parse Identity +NM_000138.5:c.7741T>A NP_000129.3:p.Cys2581Ser NC_000015.10:48420764:A:T p.(Cys2581Ser) NC_000015.10:48420764:A:T p.(Cys2581Ser) NC_000015.10:48420764:A:T Identity +NM_001407571.1:c.1037A>C NP_001394500.1:p.Asn346Thr NC_000017.11:43094280:T:G p.(Asn346Thr) NC_000017.11:43094280:T:G p.(Asn346Thr) NC_000017.11:43094280:T:G Identity +NM_000038.6:c.7865C>A NP_000029.2:p.Pro2622His NC_000005.10:112843458:C:A p.(Pro2622His) NC_000005.10:112843458:C:A p.(Pro2622His) NC_000005.10:112843458:C:A Identity +NM_018975.4:c.772A>T NP_061848.2:p.Thr258Ser NC_000016.10:75654373:A:T p.(Thr258Ser) NC_000016.10:75654373:A:T p.(Thr258Ser) NC_000016.10:75654373:A:T Identity +NM_000038.6:c.7735G>A NP_000029.2:p.Glu2579Lys NC_000005.10:112843328:G:A p.(Glu2579Lys) NC_000005.10:112843328:G:A p.(Glu2579Lys) NC_000005.10:112843328:G:A Identity +NM_000088.4:c.773C>G NP_000079.2:p.Thr258Arg NC_000017.11:50197040:G:C p.(Thr258Arg) NC_000017.11:50197040:G:C p.(Thr258Arg) NC_000017.11:50197040:G:C Identity +NM_021167.5:c.124G>A NP_066990.3:p.Gly42Arg NC_000007.14:92447852:G:A p.(Gly42Arg) NC_000007.14:92447852:G:A p.(Gly42Arg) NC_000007.14:92447852:G:A Identity +NM_001232.4:c.775G>C NP_001223.2:p.Glu259Gln NC_000001.11:115725515:C:G p.(Glu259Gln) NC_000001.11:115725515:C:G p.(Glu259Gln) NC_000001.11:115725515:C:G Identity +NM_000890.5:c.750C>G NP_000881.3:p.Ile250Met NC_000011.10:128912022:C:G p.(Ile250Met) NC_000011.10:128912022:C:G p.(Ile250Met) NC_000011.10:128912022:C:G Identity +NM_001256850.1:c.97627G>A NP_001243779.1:p.Glu32543Lys NC_000002.12:178534064:C:T p.(Glu32543Lys) NC_000002.12:178534064:C:T p.(Glu32543Lys) NC_000002.12:178534064:C:T Identity +NM_001256850.1:c.97735T>G NP_001243779.1:p.Ser32579Ala NC_000002.12:178533956:A:C p.(Ser32579Ala) NC_000002.12:178533956:A:C p.(Ser32579Ala) NC_000002.12:178533956:A:C Identity +NM_000455.5:c.796A>C NP_000446.1:p.Asn266His NC_000019.10:1221273:A:C p.(Asn266His) NC_000019.10:1221273:A:C p.(Asn266His) NC_000019.10:1221273:A:C Identity +NM_001164269.2:c.79C>T NP_001157741.1:p.Arg27Trp NC_000015.10:40698836:C:T p.(Arg27Trp) NC_000015.10:40698836:C:T p.(Arg27Trp) NC_000015.10:40698836:C:T Identity +NM_000143.4:c.1252C>A NP_000134.2:p.His418Asn NC_000001.11:241500574:G:T p.(His418Asn) NC_000001.11:241500574:G:T p.(His418Asn) NC_000001.11:241500574:G:T Identity +NM_001293306.2:c.761T>C NP_001280235.2:p.Ile254Thr NC_000003.12:38761313:A:G p.(Ile254Thr) NC_000003.12:38761313:A:G p.(Ile254Thr) NC_000003.12:38761313:A:G Identity +NM_001184.4:c.7629G>A NP_001175.2:p.Met2543Ile NC_000003.12:142457629:C:T p.(Met2543Ile) NC_000003.12:142457629:C:T p.(Met2543Ile) NC_000003.12:142457629:C:T Identity +NM_000179.3:c.785A>T NP_000170.1:p.Asp262Val NC_000002.12:47798767:A:T p.(Asp262Val) NC_000002.12:47798767:A:T p.(Asp262Val) NC_000002.12:47798767:A:T Identity +NM_001098623.2:c.7871C>T NP_001092093.2:p.Ala2624Val NC_000001.11:228280385:C:T p.(Ala2624Val) NC_000001.11:228280385:C:T p.(Ala2624Val) NC_000001.11:228280385:C:T Identity +NM_000059.4:c.7901T>A NP_000050.3:p.Met2634Lys NC_000013.11:32362617:T:A p.(Met2634Lys) NC_000013.11:32362617:T:A p.(Met2634Lys) NC_000013.11:32362617:T:A Identity +NM_001128844.3:c.788del NP_001122316.1:p.Pro263fs NC_000019.10:10986927:CCCCC:CCCC p.(Pro263GlnfsTer40) NC_000019.10:10986927:CCCCC:CCCC p.(Pro263GlnfsTer40) NC_000019.10:10986931:C: Analogous +NM_001184.4:c.7894T>G NP_001175.2:p.Leu2632Val NC_000003.12:142449469:A:C p.(Leu2632Val) NC_000003.12:142449469:A:C p.(Leu2632Val) NC_000003.12:142449469:A:C Identity +NM_001008844.3:c.6142G>A NP_001008844.1:p.Gly2048Ser NC_000006.12:7585200:G:A p.(Gly2048Ser) NC_000006.12:7585200:G:A p.(Gly2048Ser) NC_000006.12:7585200:G:A Identity +NM_016616.5:c.793G>T NP_057700.3:p.Gly265Ter NC_000007.14:37867872:G:T p.(Gly265Ter) NC_000007.14:37867872:G:T p.(Gly265Ter) NC_000007.14:37867872:G:T Identity +NM_001379200.1:c.823G>C NP_001366129.1:p.Glu275Gln NC_000022.11:19765068:G:C p.(Glu275Gln) NC_000022.11:19765068:G:C p.(Glu275Gln) NC_000022.11:19765068:G:C Identity +NM_000038.6:c.7729T>A NP_000029.2:p.Ser2577Thr NC_000005.10:112843322:T:A p.(Ser2577Thr) NC_000005.10:112843322:T:A p.(Ser2577Thr) NC_000005.10:112843322:T:A Identity +NM_001081640.2:c.797C>T NP_001075109.1:p.Ala266Val NC_000008.11:47943863:G:A p.(Ala266Val) NC_000008.11:47943863:G:A p.(Ala266Val) NC_000008.11:47943863:G:A Identity +NM_001410772.1:c.79G>A NP_001397701.1:p.Val27Met NC_000003.12:52409596:C:T p.(Val27Met) NC_000003.12:52409596:C:T p.(Val27Met) NC_000003.12:52409596:C:T Identity +NM_001010874.5:c.806T>C NP_001010874.2:p.Val269Ala NC_000004.12:64289735:A:G p.(Val269Ala) NC_000004.12:64289735:A:G p.(Val269Ala) NC_000004.12:64289735:A:G Identity +NM_058216.3:c.776C>T NP_478123.1:p.Thr259Ile NC_000017.11:58709928:C:T p.(Thr259Ile) NC_000017.11:58709928:C:T p.(Thr259Ile) NC_000017.11:58709928:C:T Identity +NM_001367624.2:c.7862T>C NP_001354553.1:p.Val2621Ala NC_000016.10:88435331:T:C p.(Val2621Ala) NC_000016.10:88435331:T:C p.(Val2621Ala) NC_000016.10:88435331:T:C Identity +NM_030777.4:c.1252G>A NP_110404.1:p.Val418Ile NC_000020.11:46726287:G:A p.(Val418Ile) NC_000020.11:46726287:G:A p.(Val418Ile) NC_000020.11:46726287:G:A Identity +NM_001367624.2:c.7993T>A NP_001354553.1:p.Ser2665Thr NC_000016.10:88435462:T:A p.(Ser2665Thr) NC_000016.10:88435462:T:A p.(Ser2665Thr) NC_000016.10:88435462:T:A Identity +NM_003924.4:c.791C>A NP_003915.2:p.Ala264Asp NC_000004.12:41745960:G:T p.(Ala264Asp) NC_000004.12:41745960:G:T p.(Ala264Asp) NC_000004.12:41745960:G:T Identity +NM_000321.3:c.791C>G NP_000312.2:p.Ala264Gly NC_000013.11:48362886:C:G p.(Ala264Gly) NC_000013.11:48362886:C:G p.(Ala264Gly) NC_000013.11:48362886:C:G Identity +NM_001007793.3:c.795C>A NP_001007794.1:p.Asn265Lys NC_000010.11:123162651:C:A p.(Asn265Lys) NC_000010.11:123162651:C:A p.(Asn265Lys) NC_000010.11:123162651:C:A Identity +NM_001098623.2:c.8093C>T NP_001092093.2:p.Ala2698Val NC_000001.11:228280691:C:T p.(Ala2698Val) NC_000001.11:228280691:C:T p.(Ala2698Val) NC_000001.11:228280691:C:T Identity +NM_000179.3:c.1257_1258del NP_000170.1:p.Asn420fs NC_000002.12:47799238:AGA:A p.(Asn420LeufsTer2) NC_000002.12:47799238:AGA:A p.(Asn420LeufsTer2) NC_000002.12:47799239:GA: Analogous +NM_001376.5:c.8081G>A NP_001367.2:p.Arg2694His NC_000014.9:102017407:G:A p.(Arg2694His) NC_000014.9:102017407:G:A p.(Arg2694His) NC_000014.9:102017407:G:A Identity +NM_033118.4:c.808C>T NP_149109.1:p.Arg270Cys NC_000020.11:31823511:C:T p.(Arg270Cys) NC_000020.11:31823511:C:T p.(Arg270Cys) NC_000020.11:31823511:C:T Identity +NM_000138.5:c.8098C>T NP_000129.3:p.Pro2700Ser NC_000015.10:48412696:G:A p.(Pro2700Ser) NC_000015.10:48412696:G:A p.(Pro2700Ser) NC_000015.10:48412696:G:A Identity +NM_001353229.2:c.863_864delinsTT NP_001340158.1:p.Thr288Ile NC_000017.11:17221597:GG:AA p.(Thr288Ile) NC_000017.11:17221597:GG:AA p.(Thr288Ile) NC_000017.11:17221597:GG:AA Identity +NM_001199107.2:c.811A>G NP_001186036.1:p.Thr271Ala NC_000016.10:2496958:A:G p.(Thr271Ala) NC_000016.10:2496958:A:G p.(Thr271Ala) NC_000016.10:2496958:A:G Identity +NM_000465.4:c.816T>A NP_000456.2:p.Phe272Leu NC_000002.12:214781057:A:T p.(Phe272Leu) NC_000002.12:214781057:A:T p.(Phe272Leu) NC_000002.12:214781057:A:T Identity +NM_001081640.2:c.8161G>T NP_001075109.1:p.Gly2721Cys NC_000008.11:47831917:C:A p.(Gly2721Cys) NC_000008.11:47831917:C:A p.(Gly2721Cys) NC_000008.11:47831917:C:A Identity +NM_053046.4:c.818G>T NP_444274.1:p.Ser273Ile NC_000019.10:40801389:G:T p.(Ser273Ile) NC_000019.10:40801389:G:T p.(Ser273Ile) NC_000019.10:40801389:G:T Identity +NM_000059.4:c.8260C>G NP_000050.3:p.His2754Asp NC_000013.11:32363461:C:G p.(His2754Asp) NC_000013.11:32363461:C:G p.(His2754Asp) NC_000013.11:32363461:C:G Identity +NM_001098623.2:c.8251G>A NP_001092093.2:p.Glu2751Lys NC_000001.11:228281985:G:A p.(Glu2751Lys) NC_000001.11:228281985:G:A p.(Glu2751Lys) NC_000001.11:228281985:G:A Identity +NM_006231.4:c.829G>C NP_006222.2:p.Glu277Gln NC_000012.12:132676625:C:G p.(Glu277Gln) NC_000012.12:132676625:C:G p.(Glu277Gln) NC_000012.12:132676625:C:G Identity +NM_001081640.2:c.82G>T NP_001075109.1:p.Ala28Ser NC_000008.11:47960044:C:A p.(Ala28Ser) NC_000008.11:47960044:C:A p.(Ala28Ser) NC_000008.11:47960044:C:A Identity +NM_001148.6:c.8300A>C NP_001139.3:p.Asp2767Ala NC_000004.12:113356917:A:C p.(Asp2767Ala) NC_000004.12:113356917:A:C p.(Asp2767Ala) NC_000004.12:113356917:A:C Identity +NM_018975.4:c.829A>G NP_061848.2:p.Ile277Val NC_000016.10:75656239:A:G p.(Ile277Val) NC_000016.10:75656239:A:G p.(Ile277Val) NC_000016.10:75656239:A:G Identity +NM_001098623.2:c.8345G>A NP_001092093.2:p.Arg2782His NC_000001.11:228282079:G:A p.(Arg2782His) NC_000001.11:228282079:G:A p.(Arg2782His) NC_000001.11:228282079:G:A Identity +NM_001166108.2:c.836G>T NP_001159580.1:p.Ser279Ile NC_000004.12:168512339:G:T p.(Ser279Ile) NC_000004.12:168512339:G:T p.(Ser279Ile) NC_000004.12:168512339:G:T Identity +NM_002439.5:c.830A>G NP_002430.3:p.Asp277Gly NC_000005.10:80672280:A:G p.(Asp277Gly) NC_000005.10:80672280:A:G p.(Asp277Gly) NC_000005.10:80672280:A:G Identity +NM_001010874.5:c.832G>A NP_001010874.2:p.Gly278Arg NC_000004.12:64289709:C:T p.(Gly278Arg) NC_000004.12:64289709:C:T p.(Gly278Arg) NC_000004.12:64289709:C:T Identity +NM_000249.4:c.835_839dup NP_000240.1:p.Tyr280Ter NC_000003.12:37017548:AGTGTA:AGTGTAGTGTA p.(Tyr280Ter) NC_000003.12:37017548:AGTGTA:AGTGTAGTGTA p.(Tyr280Ter) ERR:SPDI Identity +NM_000455.5:c.836_837delinsTA NP_000446.1:p.Gly279Val NC_000019.10:1221313:GC:TA p.(Gly279Val) NC_000019.10:1221313:GC:TA p.(Gly279Val) NC_000019.10:1221313:GC:TA Identity +NM_000535.7:c.838G>A NP_000526.2:p.Val280Ile NC_000007.14:5995598:C:T p.(Val280Ile) NC_000007.14:5995598:C:T p.(Val280Ile) NC_000007.14:5995598:C:T Identity +NM_000143.4:c.842C>G NP_000134.2:p.Thr281Arg NC_000001.11:241506064:G:C p.(Thr281Arg) NC_000001.11:241506064:G:C p.(Thr281Arg) NC_000001.11:241506064:G:C Identity +NM_001024688.3:c.602C>G NP_001019859.1:p.Pro201Arg NC_000008.11:89970411:G:C p.(Pro201Arg) NC_000008.11:89970411:G:C p.(Pro201Arg) NC_000008.11:89970411:G:C Identity +NM_001317184.2:c.836C>A NP_001304113.1:p.Thr279Asn NC_000016.10:68811686:C:A p.(Thr279Asn) NC_000016.10:68811686:C:A p.(Thr279Asn) NC_000016.10:68811686:C:A Identity +NM_000368.5:c.840A>T NP_000359.1:p.Gln280His NC_000009.12:132912354:T:A p.(Gln280His) NC_000009.12:132912354:T:A p.(Gln280His) NC_000009.12:132912354:T:A Identity +NM_001127660.2:c.843T>G NP_001121132.1:p.Cys281Trp NC_000001.11:12001426:T:G p.(Cys281Trp) NC_000001.11:12001426:T:G p.(Cys281Trp) NC_000001.11:12001426:T:G Identity +NM_001352300.2:c.1259A>G NP_001339229.1:p.Gln420Arg NC_000022.11:19880191:T:C p.(Gln420Arg) NC_000022.11:19880191:T:C p.? NC_000022.11:19880191:T:C Identity +NM_002439.5:c.844A>G NP_002430.3:p.Thr282Ala NC_000005.10:80672294:A:G p.(Thr282Ala) NC_000005.10:80672294:A:G p.(Thr282Ala) NC_000005.10:80672294:A:G Identity +NM_000890.5:c.844C>A NP_000881.3:p.Gln282Lys NC_000011.10:128912116:C:A p.(Gln282Lys) NC_000011.10:128912116:C:A p.(Gln282Lys) NC_000011.10:128912116:C:A Identity +NM_144670.6:c.844C>T NP_653271.3:p.Leu282Phe NC_000012.12:8837554:C:T p.(Leu282Phe) NC_000012.12:8837554:C:T p.(Leu282Phe) NC_000012.12:8837554:C:T Identity +NM_000038.6:c.8453C>G NP_000029.2:p.Ser2818Cys NC_000005.10:112844046:C:G p.(Ser2818Cys) NC_000005.10:112844046:C:G p.(Ser2818Cys) NC_000005.10:112844046:C:G Identity +NM_001407041.1:c.860_861insGATA NP_001393970.1:p.His287Glnfs NC_000018.10:51058411:A:AGATA p.(His287GlnfsTer22) NC_000018.10:51058411:A:GATA p.(His287GlnfsTer22) NC_000018.10:51058412:AT:GATA Analogous +NM_001277115.2:c.8539C>G NP_001264044.1:p.Pro2847Ala NC_000007.14:21748607:C:G p.(Pro2847Ala) NC_000007.14:21748607:C:G p.(Pro2847Ala) NC_000007.14:21748607:C:G Identity +NM_000323.2:c.855C>A NP_000314.1:p.Phe285Leu NC_000010.11:43105180:C:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_006767.4:c.853T>C NP_006758.2:p.Tyr285His NC_000022.11:20991688:T:C p.(Tyr285His) NC_000022.11:20991688:T:C p.(Tyr285His) NC_000022.11:20991688:T:C Identity +NM_001007793.3:c.868A>G NP_001007794.1:p.Thr290Ala NC_000010.11:123162724:A:G p.(Thr290Ala) NC_000010.11:123162724:A:G p.(Thr290Ala) NC_000010.11:123162724:A:G Identity +NM_000249.4:c.1264G>T NP_000240.1:p.Gly422Cys NC_000003.12:37025861:G:T p.(Gly422Cys) NC_000003.12:37025861:G:T p.(Gly422Cys) NC_000003.12:37025861:G:T Identity +NM_001098623.2:c.12661G>A NP_001092093.2:p.Gly4221Ser NC_000001.11:228308304:G:A p.(Gly4221Ser) NC_000001.11:228308304:G:A p.(Gly4221Ser) NC_000001.11:228308304:G:A Identity +NM_031407.7:c.8636G>A NP_113584.3:p.Ser2879Asn NC_000023.11:53552751:C:T p.(Ser2879Asn) NC_000023.11:53552751:C:T p.(Ser2879Asn) NC_000023.11:53552751:C:T Identity +NM_024642.5:c.866C>T NP_078918.3:p.Thr289Ile NC_000009.12:98831905:C:T p.(Thr289Ile) NC_000009.12:98831905:C:T p.(Thr289Ile) NC_000009.12:98831905:C:T Identity +NM_001407240.1:c.994G>A NP_001394169.1:p.Gly332Ser NC_000001.11:55056063:G:A p.(Gly332Ser) NC_000001.11:55056063:G:A p.(Gly332Ser) NC_000001.11:55056063:G:A Identity +NM_198578.4:c.1262C>A NP_940980.4:p.Ala421Glu NC_000012.12:40252989:C:A p.(Ala421Glu) NC_000012.12:40252989:C:A p.(Ala421Glu) NC_000012.12:40252989:C:A Identity +NM_004444.5:c.848G>A NP_004435.3:p.Gly283Glu NC_000007.14:100820256:C:T p.(Gly283Glu) NC_000007.14:100820256:C:T p.(Gly283Glu) NC_000007.14:100820256:C:T Identity +NM_001098623.2:c.8503G>T NP_001092093.2:p.Asp2835Tyr NC_000001.11:228283049:G:T p.(Asp2835Tyr) NC_000001.11:228283049:G:T p.(Asp2835Tyr) NC_000001.11:228283049:G:T Identity +NM_001211.6:c.874G>C NP_001202.5:p.Val292Leu NC_000015.10:40185286:G:C p.(Val292Leu) NC_000015.10:40185286:G:C p.(Val292Leu) NC_000015.10:40185286:G:C Identity +NM_000399.5:c.875C>T NP_000390.2:p.Pro292Leu NC_000010.11:62813762:G:A p.(Pro292Leu) NC_000010.11:62813762:G:A p.(Pro292Leu) NC_000010.11:62813762:G:A Identity +NM_000245.4:c.1268C>A NP_000236.2:p.Ala423Asp NC_000007.14:116731734:C:A p.(Ala423Asp) NC_000007.14:116731734:C:A p.(Ala423Asp) NC_000007.14:116731734:C:A Identity +NM_001303245.3:c.877C>T NP_001290174.1:p.Pro293Ser NC_000003.12:141570924:C:T p.(Pro293Ser) NC_000003.12:141570924:C:T p.(Pro293Ser) NC_000003.12:141570924:C:T Identity +NM_000251.3:c.879delinsGTA NP_000242.1:p.Phe294fs NC_000002.12:47414354:T:GTA p.(Phe294LeufsTer2) NC_000002.12:47414354:TTTT:TTTGTA p.(Phe294TyrfsTer8) NC_000002.12:47414354:T:GTA Analogous +NM_001082486.2:c.611T>A NP_001075955.2:p.Val204Asp NC_000016.10:67658961:A:T p.(Val204Asp) NC_000016.10:67658961:A:T p.(Val204Asp) NC_000016.10:67658961:A:T Identity +NM_001211.6:c.872C>T NP_001202.5:p.Thr291Ile NC_000015.10:40185284:C:T p.(Thr291Ile) NC_000015.10:40185284:C:T p.(Thr291Ile) NC_000015.10:40185284:C:T Identity +NM_000249.4:c.874C>A NP_000240.1:p.Leu292Met NC_000003.12:37017588:C:A p.(Leu292Met) NC_000003.12:37017588:C:A p.(Leu292Met) NC_000003.12:37017588:C:A Identity +NM_000384.3:c.8761T>G NP_000375.3:p.Trp2921Gly NC_000002.12:21008106:A:C p.(Trp2921Gly) NC_000002.12:21008106:A:C p.(Trp2921Gly) NC_000002.12:21008106:A:C Identity +NM_000384.3:c.8780G>C NP_000375.3:p.Gly2927Ala NC_000002.12:21008087:C:G p.(Gly2927Ala) NC_000002.12:21008087:C:G p.(Gly2927Ala) NC_000002.12:21008087:C:G Identity +NM_001008844.3:c.6730A>C NP_001008844.1:p.Ser2244Arg NC_000006.12:7585788:A:C p.(Ser2244Arg) NC_000006.12:7585788:A:C p.(Ser2244Arg) NC_000006.12:7585788:A:C Identity +NM_001321307.1:c.854A>C NP_001308236.1:p.Asp285Ala NC_000011.10:108185283:T:G p.(Asp285Ala) NC_000011.10:108185283:T:G p.(Asp285Ala) NC_000011.10:108185283:T:G Identity +NM_001407918.1:c.1051dup NP_001394847.1:p.Tyr351fs NC_000017.11:43094266:A:AA p.(Tyr351LeufsTer14) NC_000017.11:43094266:A:AA p.(Tyr351LeufsTer14) ERR:SPDI Analogous +NM_002439.5:c.857C>T NP_002430.3:p.Pro286Leu NC_000005.10:80672307:C:T p.(Pro286Leu) NC_000005.10:80672307:C:T p.(Pro286Leu) NC_000005.10:80672307:C:T Identity +NM_001211.6:c.1265A>G NP_001202.5:p.Lys422Arg NC_000015.10:40196750:A:G p.(Lys422Arg) NC_000015.10:40196750:A:G p.(Lys422Arg) NC_000015.10:40196750:A:G Identity +NM_002907.4:c.883T>C NP_002898.2:p.Ser295Pro NC_000012.12:21476976:A:G p.(Ser295Pro) NC_000012.12:21476976:A:G p.(Ser295Pro) NC_000012.12:21476976:A:G Identity +NM_001407472.1:c.30T>G NP_001394401.1:p.Ser10Arg NC_000005.10:112815538:T:G p.(Ser10Arg) NC_000005.10:112815538:T:G p.(Ser10Arg) NC_000005.10:112815538:T:G Identity +NM_001029.5:c.88del NP_001020.2:p.Val30fs NC_000012.12:56042508:G: p.(Val30CysfsTer15) NC_000012.12:56042508:G: p.(Val30CysfsTer15) NC_000012.12:56042508:G: Analogous +NM_000059.4:c.8930A>G NP_000050.3:p.Tyr2977Cys NC_000013.11:32379491:A:G p.(Tyr2977Cys) NC_000013.11:32379491:A:G p.(Tyr2977Cys) NC_000013.11:32379491:A:G Identity +NM_000179.3:c.900_913del NP_000170.1:p.Lys301fs NC_000002.12:47798882:GAAGAGAATGGTGA: p.(Lys301TrpfsTer6) NC_000002.12:47798882:GAAGAGAATGGTGA: p.(Lys301TrpfsTer6) NC_000002.12:47798882:GAAGAGAATGGTGA: Analogous +NM_199420.4:c.892G>T NP_955452.3:p.Val298Phe NC_000003.12:121533057:C:A p.(Val298Phe) NC_000003.12:121533057:C:A p.(Val298Phe) NC_000003.12:121533057:C:A Identity +NM_001166108.2:c.902G>T NP_001159580.1:p.Arg301Leu NC_000004.12:168512405:G:T p.(Arg301Leu) NC_000004.12:168512405:G:T p.(Arg301Leu) NC_000004.12:168512405:G:T Identity +NM_018975.4:c.910G>A NP_061848.2:p.Glu304Lys NC_000016.10:75656320:G:A p.(Glu304Lys) NC_000016.10:75656320:G:A p.(Glu304Lys) NC_000016.10:75656320:G:A Identity +NM_001369.3:c.9125G>T NP_001360.1:p.Arg3042Leu NC_000005.10:13776686:C:A p.(Arg3042Leu) NC_000005.10:13776686:C:A p.(Arg3042Leu) NC_000005.10:13776686:C:A Identity +NM_000179.3:c.904A>T NP_000170.1:p.Arg302Ter NC_000002.12:47798886:A:T p.(Arg302Ter) NC_000002.12:47798886:A:T p.(Arg302Ter) NC_000002.12:47798886:A:T Identity +NM_004304.5:c.905A>G NP_004295.2:p.Asp302Gly NC_000002.12:29694896:T:C p.(Asp302Gly) NC_000002.12:29694896:T:C p.(Asp302Gly) NC_000002.12:29694896:T:C Identity +NM_001346599.2:c.673A>G NP_001333528.1:p.Ile225Val NC_000007.14:105548620:A:G p.(Ile225Val) NC_000007.14:105548620:A:G p.(Ile225Val) NC_000007.14:105548620:A:G Identity +NM_000321.3:c.907C>G NP_000312.2:p.Leu303Val NC_000013.11:48364938:C:G p.(Leu303Val) NC_000013.11:48364938:C:G p.(Leu303Val) NC_000013.11:48364938:C:G Identity +NM_000492.4:c.911A>C NP_000483.3:p.Tyr304Ser NC_000007.14:117540140:A:C p.(Tyr304Ser) NC_000007.14:117540140:A:C p.(Tyr304Ser) NC_000007.14:117540140:A:C Identity +NM_000314.8:c.911G>T NP_000305.3:p.Cys304Phe NC_000010.11:87961002:G:T p.(Cys304Phe) NC_000010.11:87961002:G:T p.(Cys304Phe) NC_000010.11:87961002:G:T Identity +NM_001367624.2:c.8947C>T NP_001354553.1:p.Arg2983Trp NC_000016.10:88436416:C:T p.(Arg2983Trp) NC_000016.10:88436416:C:T p.(Arg2983Trp) NC_000016.10:88436416:C:T Identity +NM_001099405.2:c.914A>G NP_001092875.1:p.Asp305Gly NC_000003.12:38609753:T:C p.(Asp305Gly) NC_000003.12:38609753:T:C p.(Asp305Gly) NC_000003.12:38609753:T:C Identity +NM_000059.4:c.9180T>G NP_000050.3:p.Phe3060Leu NC_000013.11:32380068:T:G p.(Phe3060Leu) NC_000013.11:32380068:T:G p.(Phe3060Leu) NC_000013.11:32380068:T:G Identity +NM_001098623.2:c.9206C>T NP_001092093.2:p.Ala3069Val NC_000001.11:228286278:C:T p.(Ala3069Val) NC_000001.11:228286278:C:T p.(Ala3069Val) NC_000001.11:228286278:C:T Identity +NM_000384.3:c.9158A>G NP_000375.3:p.Glu3053Gly NC_000002.12:21007709:T:C p.(Glu3053Gly) NC_000002.12:21007709:T:C p.(Glu3053Gly) NC_000002.12:21007709:T:C Identity +NM_001321309.2:c.388C>G NP_001308238.1:p.Pro130Ala NC_000003.12:123734079:G:C p.(Pro130Ala) NC_000003.12:123734079:G:C p.(Pro130Ala) NC_000003.12:123734079:G:C Identity +NM_199420.4:c.914C>T NP_955452.3:p.Ser305Phe NC_000003.12:121533035:G:A p.(Ser305Phe) NC_000003.12:121533035:G:A p.(Ser305Phe) NC_000003.12:121533035:G:A Identity +NM_000384.3:c.9199A>G NP_000375.3:p.Lys3067Glu NC_000002.12:21007668:T:C p.(Lys3067Glu) NC_000002.12:21007668:T:C p.(Lys3067Glu) NC_000002.12:21007668:T:C Identity +NM_000384.3:c.919G>A NP_000375.3:p.Gly307Ser NC_000002.12:21033503:C:T p.(Gly307Ser) NC_000002.12:21033503:C:T p.(Gly307Ser) NC_000002.12:21033503:C:T Identity +NM_000546.6:c.919G>C NP_000537.3:p.Ala307Pro NC_000017.11:7673700:C:G p.(Ala307Pro) NC_000017.11:7673700:C:G p.(Ala307Pro) NC_000017.11:7673700:C:G Identity +NM_001081640.2:c.8933A>G NP_001075109.1:p.Lys2978Arg NC_000008.11:47821781:T:C p.(Lys2978Arg) NC_000008.11:47821781:T:C p.(Lys2978Arg) NC_000008.11:47821781:T:C Identity +NM_001357321.2:c.898A>G NP_001344250.1:p.Met300Val NC_000002.12:43852801:A:G p.(Met300Val) NC_000002.12:43852801:A:G p.(Met300Val) NC_000002.12:43852801:A:G Identity +NM_001330437.2:c.898C>A NP_001317366.1:p.Pro300Thr NC_000012.12:112477694:C:A p.(Pro300Thr) NC_000012.12:112477694:C:A p.(Pro300Thr) NC_000012.12:112477694:C:A Identity +NM_000059.4:c.899dup NP_000050.3:p.Asp301fs NC_000013.11:32332376:T:TT p.(Asp301ArgfsTer4) NC_000013.11:32332376:T:TT p.(Asp301ArgfsTer4) ERR:SPDI Analogous +NM_000321.3:c.899T>C NP_000312.2:p.Met300Thr NC_000013.11:48364930:T:C p.(Met300Thr) NC_000013.11:48364930:T:C p.(Met300Thr) NC_000013.11:48364930:T:C Identity +NM_024642.5:c.1274T>G NP_078918.3:p.Phe425Cys NC_000009.12:98840062:T:G p.(Phe425Cys) NC_000009.12:98840062:T:G p.(Phe425Cys) NC_000009.12:98840062:T:G Identity +NM_001365276.2:c.9250G>A NP_001352205.1:p.Glu3084Lys NC_000006.12:32050186:C:T p.(Glu3084Lys) NC_000006.12:32050186:C:T p.(Glu3084Lys) NC_000006.12:32050186:C:T Identity +NM_001352020.1:c.92C>T NP_001338949.1:p.Pro31Leu NC_000016.10:970888:G:A p.(Pro31Leu) NC_000016.10:970888:G:A p.(Pro31Leu) NC_000016.10:970888:G:A Identity +NM_000719.7:c.922C>T NP_000710.5:p.Pro308Ser NC_000012.12:2493194:C:T p.(Pro308Ser) NC_000012.12:2493194:C:T p.(Pro308Ser) NC_000012.12:2493194:C:T Identity +NM_053046.4:c.923T>A NP_444274.1:p.Ile308Asn NC_000019.10:40806633:T:A p.(Ile308Asn) NC_000019.10:40806633:T:A p.(Ile308Asn) NC_000019.10:40806633:T:A Identity +NM_000136.3:c.923C>T NP_000127.2:p.Ala308Val NC_000009.12:95125158:G:A p.(Ala308Val) NC_000009.12:95125158:G:A p.(Ala308Val) NC_000009.12:95125158:G:A Identity +NM_000251.3:c.939dup NP_000242.1:p.Gln314fs NC_000002.12:47414410:TTTTT:TTTTTT p.(Gln314SerfsTer5) NC_000002.12:47414410:TTTTT:TTTTTT p.(Gln314SerfsTer5) ERR:SPDI Analogous +NM_001081640.2:c.9329T>G NP_001075109.1:p.Phe3110Cys NC_000008.11:47820725:A:C p.(Phe3110Cys) NC_000008.11:47820725:A:C p.(Phe3110Cys) NC_000008.11:47820725:A:C Identity +NM_052947.4:c.939G>T NP_443179.3:p.Glu313Asp NC_000018.10:58579836:C:A p.(Glu313Asp) NC_000018.10:58579836:C:A p.(Glu313Asp) NC_000018.10:58579836:C:A Identity +NM_001007793.3:c.929G>A NP_001007794.1:p.Gly310Asp NC_000010.11:123162785:G:A p.(Gly310Asp) NC_000010.11:123162785:G:A p.(Gly310Asp) NC_000010.11:123162785:G:A Identity +NM_001040633.2:c.805A>C NP_001035723.1:p.Ser269Arg NC_000007.14:151576379:T:G p.(Ser269Arg) NC_000007.14:151576379:T:G p.(Ser269Arg) NC_000007.14:151576379:T:G Identity +NM_024642.5:c.949G>A NP_078918.3:p.Val317Met NC_000009.12:98835279:G:A p.(Val317Met) NC_000009.12:98835279:G:A p.(Val317Met) NC_000009.12:98835279:G:A Identity +NM_003673.4:c.94A>T NP_003664.1:p.Thr32Ser NC_000017.11:39665452:A:T p.(Thr32Ser) NC_000017.11:39665452:A:T p.(Thr32Ser) NC_000017.11:39665452:A:T Identity +NM_001195227.2:c.94G>A NP_001182156.1:p.Gly32Arg NC_000019.10:49166041:G:A p.(Gly32Arg) NC_000019.10:49166041:G:A p.(Gly32Arg) NC_000019.10:49166041:G:A Identity +NM_001014794.3:c.94G>A NP_001014794.1:p.Asp32Asn NC_000011.10:6608049:G:A p.(Asp32Asn) NC_000011.10:6608049:G:A p.(Asp32Asn) NC_000011.10:6608049:G:A Identity +NM_000465.4:c.950_957delinsG NP_000456.2:p.Glu317fs NC_000002.12:214780916:ATTATTTT:C p.(Glu317GlyfsTer23) NC_000002.12:214780916:ATTATTTT:C p.(Glu317GlyfsTer23) NC_000002.12:214780916:ATTATTTT:C Analogous +NM_002354.3:c.911A>T NP_002345.2:p.Glu304Val NC_000002.12:47386578:A:T p.(Glu304Val) NC_000002.12:47386578:A:T p.(Glu304Val) NC_000002.12:47386578:A:T Identity +NM_001430.5:c.917A>G NP_001421.2:p.Gln306Arg NC_000002.12:46375719:A:G p.(Gln306Arg) NC_000002.12:46375719:A:G p.(Gln306Arg) NC_000002.12:46375719:A:G Identity +NM_001350671.1:c.233A>C NP_001337600.1:p.Gln78Pro NC_000007.14:92234490:T:G p.(Gln78Pro) NC_000007.14:92234490:T:G p.(Gln78Pro) NC_000007.14:92234490:T:G Identity +NM_000109.4:c.9473A>G NP_000100.3:p.Asn3158Ser NC_000023.11:31209563:T:C p.(Asn3158Ser) NC_000023.11:31209563:T:C p.(Asn3158Ser) NC_000023.11:31209563:T:C Identity +NM_001302959.2:c.772G>C NP_001289888.1:p.Asp258His NC_000011.10:67490948:G:C p.(Asp258His) NC_000011.10:67490948:G:C p.(Asp258His) NC_000011.10:67490948:G:C Identity +NM_001144769.5:c.12779T>C NP_001138241.1:p.Met4260Thr NC_000006.12:56508631:A:G p.(Met4260Thr) NC_000006.12:56508631:A:G p.(Met4260Thr) NC_000006.12:56508631:A:G Identity +NM_001407296.1:c.882A>T NP_001394225.1:p.Gln294His NC_000016.10:23635603:T:A p.(Gln294His) NC_000016.10:23635603:T:A p.(Gln294His) NC_000016.10:23635603:T:A Identity +NM_000314.8:c.962C>T NP_000305.3:p.Thr321Ile NC_000010.11:87961053:C:T p.(Thr321Ile) NC_000010.11:87961053:C:T p.(Thr321Ile) NC_000010.11:87961053:C:T Identity +NM_000384.3:c.9644C>G NP_000375.3:p.Ala3215Gly NC_000002.12:21007223:G:C p.(Ala3215Gly) NC_000002.12:21007223:G:C p.(Ala3215Gly) NC_000002.12:21007223:G:C Identity +NM_001042594.2:c.561_562dup NP_001036059.1:p.Gly188fs NC_000007.14:124846992:CA:CACA p.(Gly188ValfsTer9) NC_000007.14:124846992:CA:CACA p.(Gly188ValfsTer9) ERR:SPDI Analogous +NM_000249.4:c.95T>C NP_000240.1:p.Ile32Thr NC_000003.12:36993641:T:C p.(Ile32Thr) NC_000003.12:36993641:T:C p.(Ile32Thr) NC_000003.12:36993641:T:C Identity +NM_000059.4:c.9226G>T NP_000050.3:p.Gly3076Ter NC_000013.11:32380114:G:T p.(Gly3076Ter) NC_000013.11:32380114:G:T p.(Gly3076Ter) NC_000013.11:32380114:G:T Identity +NM_000546.6:c.94C>G NP_000537.3:p.Leu32Val NC_000017.11:7676383:G:C p.(Leu32Val) NC_000017.11:7676383:G:C p.(Leu32Val) NC_000017.11:7676383:G:C Identity +NM_000051.4:c.94C>G NP_000042.3:p.Arg32Gly NC_000011.10:108227796:C:G p.(Arg32Gly) NC_000011.10:108227796:C:G p.(Arg32Gly) NC_000011.10:108227796:C:G Identity +NM_001367624.2:c.9827G>A NP_001354553.1:p.Arg3276His NC_000016.10:88437296:G:A p.(Arg3276His) NC_000016.10:88437296:G:A p.(Arg3276His) NC_000016.10:88437296:G:A Identity +NM_001301772.2:c.92A>T NP_001288701.1:p.Glu31Val NC_000008.11:143213860:A:T p.(Glu31Val) NC_000008.11:143213860:A:T p.(Glu31Val) NC_000008.11:143213860:A:T Identity +NM_000335.5:c.959C>T NP_000326.2:p.Thr320Ile NC_000003.12:38608189:G:A p.(Thr320Ile) NC_000003.12:38608189:G:A p.(Thr320Ile) NC_000003.12:38608189:G:A Identity +NM_001303249.3:c.722C>A NP_001290178.1:p.Ala241Asp NC_000005.10:110761489:C:A p.(Ala241Asp) NC_000005.10:110761489:C:A p.(Ala241Asp) NC_000005.10:110761489:C:A Identity +NM_001024688.3:c.721T>C NP_001019859.1:p.Cys241Arg NC_000008.11:89964436:A:G p.(Cys241Arg) NC_000008.11:89964436:A:G p.(Cys241Arg) NC_000008.11:89964436:A:G Identity +NM_018975.4:c.979T>G NP_061848.2:p.Leu327Val NC_000016.10:75656389:T:G p.(Leu327Val) NC_000016.10:75656389:T:G p.(Leu327Val) NC_000016.10:75656389:T:G Identity +NM_006393.3:c.971A>G NP_006384.1:p.His324Arg NC_000010.11:20852581:T:C p.(His324Arg) NC_000010.11:20852581:T:C p.(His324Arg) NC_000010.11:20852581:T:C Identity +NM_001367624.2:c.9838A>C NP_001354553.1:p.Ser3280Arg NC_000016.10:88437307:A:C p.(Ser3280Arg) NC_000016.10:88437307:A:C p.(Ser3280Arg) NC_000016.10:88437307:A:C Identity +NM_001003652.4:c.980T>C NP_001003652.1:p.Met327Thr NC_000018.10:47848491:A:G p.(Met327Thr) NC_000018.10:47848491:A:G p.(Met327Thr) NC_000018.10:47848491:A:G Identity +NM_001081640.2:c.9470T>G NP_001075109.1:p.Leu3157Arg NC_000008.11:47817536:A:C p.(Leu3157Arg) NC_000008.11:47817536:A:C p.(Leu3157Arg) NC_000008.11:47817536:A:C Identity +NM_001035.3:c.9736A>T NP_001026.2:p.Met3246Leu NC_000001.11:237707103:A:T p.(Met3246Leu) NC_000001.11:237707103:A:T p.(Met3246Leu) NC_000001.11:237707103:A:T Identity +NM_001308093.3:c.976C>A NP_001295022.1:p.Leu326Met NC_000008.11:11755108:C:A p.(Leu326Met) NC_000008.11:11755108:C:A p.(Leu326Met) NC_000008.11:11755108:C:A Identity +NM_007254.4:c.973GAG[1] NP_009185.2:p.Glu326del NC_000019.10:49862421:CTCCTC:CTC p.(Glu326del) NC_000019.10:49862426:C:CTC ERR:Parse ERR:Parse Identity +NM_006231.4:c.991C>G NP_006222.2:p.Pro331Ala NC_000012.12:132676122:G:C p.(Pro331Ala) NC_000012.12:132676122:G:C p.(Pro331Ala) NC_000012.12:132676122:G:C Identity +NM_000890.5:c.995G>A NP_000881.3:p.Arg332Gln NC_000011.10:128916465:G:A p.(Arg332Gln) NC_000011.10:128916465:G:A p.(Arg332Gln) NC_000011.10:128916465:G:A Identity +NM_001365951.3:c.1015G>A NP_001352880.1:p.Asp339Asn NC_000001.11:10276376:G:A p.(Asp339Asn) NC_000001.11:10276376:G:A p.(Asp339Asn) NC_000001.11:10276376:G:A Identity +NM_001166108.2:c.990C>G NP_001159580.1:p.Ile330Met NC_000004.12:168668270:C:G p.(Ile330Met) NC_000004.12:168668270:C:G p.(Ile330Met) NC_000004.12:168668270:C:G Identity +NM_001243571.2:c.740T>C NP_001230500.1:p.Phe247Ser NC_000011.10:95849710:A:G p.(Phe247Ser) NC_000011.10:95849710:A:G p.(Phe247Ser) NC_000011.10:95849710:A:G Identity +NM_002485.5:c.127C>G NP_002476.2:p.Arg43Gly NC_000008.11:89982765:G:C p.(Arg43Gly) NC_000008.11:89982765:G:C p.(Arg43Gly) NC_000008.11:89982765:G:C Identity +NM_000051.4:c.979G>A NP_000042.3:p.Gly327Arg NC_000011.10:108247040:G:A p.(Gly327Arg) NC_000011.10:108247040:G:A p.(Gly327Arg) NC_000011.10:108247040:G:A Identity +NM_001256850.1:c.9979_9980del NP_001243779.1:p.Val3328fs NC_000002.12:178764534:GAGAG:GAG p.(Val3328GlyfsTer9) NC_000002.12:178764534:GAGAG:GAG p.(Val3328GlyfsTer9) NC_000002.12:178764534:GA: Analogous +NM_015450.3:c.98A>C NP_056265.2:p.Lys33Thr NC_000007.14:124892291:T:G p.(Lys33Thr) NC_000007.14:124892291:T:G p.(Lys33Thr) NC_000007.14:124892291:T:G Identity +NM_024529.5:c.999G>T NP_078805.3:p.Gln333His NC_000001.11:193203820:G:T p.(Gln333His) NC_000001.11:193203820:G:T p.(Gln333His) NC_000001.11:193203820:G:T Identity +NM_001290307.3:c.1289T>C NP_001277236.1:p.Leu430Ser NC_000005.10:138887634:T:C p.(Leu430Ser) NC_000005.10:138887634:T:C p.(Leu430Ser) NC_000005.10:138887634:T:C Identity +NM_000059.4:c.998del NP_000050.3:p.Phe333fs NC_000013.11:32332472:TTTT:TTT p.(Phe333SerfsTer16) NC_000013.11:32332472:TTTT:TTT p.(Phe333SerfsTer16) NC_000013.11:32332475:T: Analogous +NM_001302960.2:c.95C>T NP_001289889.1:p.Thr32Ile NC_000011.10:67483252:C:T p.(Thr32Ile) NC_000011.10:67483252:C:T p.(Thr32Ile) NC_000011.10:67483252:C:T Identity +NM_001079846.1:c.962A>G NP_001073315.1:p.Asn321Ser NC_000016.10:3810615:T:C p.(Asn321Ser) NC_000016.10:3810615:T:C p.(Asn321Ser) NC_000016.10:3810615:T:C Identity +NM_016938.5:c.1280G>A NP_058634.4:p.Arg427Gln NC_000011.10:65866969:C:T p.(Arg427Gln) NC_000011.10:65866969:C:T p.(Arg427Gln) NC_000011.10:65866969:C:T Identity +NM_002439.5:c.995C>T NP_002430.3:p.Ala332Val NC_000005.10:80672825:C:T p.(Ala332Val) NC_000005.10:80672825:C:T p.(Ala332Val) NC_000005.10:80672825:C:T Identity +NM_001042594.2:c.602T>C NP_001036059.1:p.Leu201Pro NC_000007.14:124846952:A:G p.(Leu201Pro) NC_000007.14:124846952:A:G p.(Leu201Pro) NC_000007.14:124846952:A:G Identity +NM_001128844.3:c.1288C>G NP_001122316.1:p.Leu430Val NC_000019.10:10991191:C:G p.(Leu430Val) NC_000019.10:10991191:C:G p.(Leu430Val) NC_000019.10:10991191:C:G Identity +NM_005751.5:c.1300C>T NP_005742.4:p.Arg434Trp NC_000007.14:92001216:C:T p.(Arg434Trp) NC_000007.14:92001216:C:T p.(Arg434Trp) NC_000007.14:92001216:C:T Identity +NM_002907.4:c.1303G>A NP_002898.2:p.Val435Met NC_000012.12:21474892:C:T p.(Val435Met) NC_000012.12:21474892:C:T p.(Val435Met) NC_000012.12:21474892:C:T Identity +NM_000251.3:c.1024del NP_000242.1:p.Val342fs NC_000002.12:47416376:G: p.(Val342LeufsTer15) NC_000002.12:47416376:G: p.(Val342LeufsTer15) NC_000002.12:47416376:G: Analogous +NM_000323.2:c.1297T>C NP_000314.1:p.Phe433Leu NC_000010.11:43111239:T:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001407932.1:c.1031C>T NP_001394861.1:p.Ala344Val NC_000017.11:43094232:G:A p.(Ala344Val) NC_000017.11:43094232:G:A p.(Ala344Val) NC_000017.11:43094232:G:A Identity +NM_001005242.3:c.130_131delinsCC NP_001005242.2:p.Ser44Pro NC_000012.12:32896600:CT:GG p.(Ser44Pro) NC_000012.12:32896600:CT:GG p.(Ser44Pro) NC_000012.12:32896600:CT:GG Identity +NM_000143.4:c.973A>G NP_000134.2:p.Ser325Gly NC_000001.11:241504176:T:C p.(Ser325Gly) NC_000001.11:241504176:T:C p.(Ser325Gly) NC_000001.11:241504176:T:C Identity +NM_001042594.2:c.902G>C NP_001036059.1:p.Arg301Pro NC_000007.14:124841046:C:G p.(Arg301Pro) NC_000007.14:124841046:C:G p.(Arg301Pro) NC_000007.14:124841046:C:G Identity +NM_001282386.1:c.1025A>G NP_001269315.1:p.His342Arg NC_000002.12:208239199:T:C p.(His342Arg) NC_000002.12:208239199:T:C p.(His342Arg) NC_000002.12:208239199:T:C Identity +NM_001211.6:c.130G>A NP_001202.5:p.Ala44Thr NC_000015.10:40165146:G:A p.(Ala44Thr) NC_000015.10:40165146:G:A p.(Ala44Thr) NC_000015.10:40165146:G:A Identity +NM_000138.5:c.1315C>T NP_000129.3:p.Arg439Trp NC_000015.10:48516194:G:A p.(Arg439Trp) NC_000015.10:48516194:G:A p.(Arg439Trp) NC_000015.10:48516194:G:A Identity +NM_000535.7:c.1304A>G NP_000526.2:p.His435Arg NC_000007.14:5987460:T:C p.(His435Arg) NC_000007.14:5987460:T:C p.(His435Arg) NC_000007.14:5987460:T:C Identity +NM_024642.5:c.985G>A NP_078918.3:p.Asp329Asn NC_000009.12:98835315:G:A p.(Asp329Asn) NC_000009.12:98835315:G:A p.(Asp329Asn) NC_000009.12:98835315:G:A Identity +NM_000249.4:c.991G>T NP_000240.1:p.Glu331Ter NC_000003.12:37020415:G:T p.(Glu331Ter) NC_000003.12:37020415:G:T p.(Glu331Ter) NC_000003.12:37020415:G:T Identity +NM_001369.3:c.13332G>A NP_001360.1:p.Trp4444Ter NC_000005.10:13708128:C:T p.(Trp4444Ter) NC_000005.10:13708128:C:T p.(Trp4444Ter) NC_000005.10:13708128:C:T Identity +NM_000051.4:c.994T>G NP_000042.3:p.Tyr332Asp NC_000011.10:108247055:T:G p.(Tyr332Asp) NC_000011.10:108247055:T:G p.(Tyr332Asp) NC_000011.10:108247055:T:G Identity +NM_001184.4:c.1024C>G NP_001175.2:p.Leu342Val NC_000003.12:142562377:G:C p.(Leu342Val) NC_000003.12:142562377:G:C p.(Leu342Val) NC_000003.12:142562377:G:C Identity +NM_001323982.2:c.1344G>C NP_001310911.1:p.Lys448Asn NC_000005.10:138904395:G:C p.(Lys448Asn) NC_000005.10:138904395:G:C p.(Lys448Asn) NC_000005.10:138904395:G:C Identity +LRG_315t1:c.1345G>C LRG_315p1:p.Ala449Pro NC_000005.10:236511:G:C ERR:Data provider error: ValueError: Transcript LRG_315t1 not found ERR:Data provider error: ValueError: Transcript LRG_315t1 not found ERR:AlignmentMapper(tx_ac=LRG_315t1, alt_ac=LRG_315t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_315t1, alt_ac=LRG_315t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_315t1 not found +NM_003334.4:c.1349G>A NP_003325.2:p.Arg450His NC_000023.11:47203143:G:A p.(Arg450His) NC_000023.11:47203143:G:A p.(Arg450His) NC_000023.11:47203143:G:A Identity +NM_001048171.2:c.1274A>C NP_001041636.2:p.Tyr425Ser NC_000001.11:45331299:T:G p.(Tyr425Ser) NC_000001.11:45331299:T:G p.(Tyr425Ser) NC_000001.11:45331299:T:G Identity +NM_032043.3:c.1319C>T NP_114432.2:p.Ala440Val NC_000017.11:61799120:G:A p.(Ala440Val) NC_000017.11:61799120:G:A p.(Ala440Val) NC_000017.11:61799120:G:A Identity +NM_003036.4:c.131A>T NP_003027.1:p.Gln44Leu NC_000001.11:2228896:A:T p.(Gln44Leu) NC_000001.11:2228896:A:T p.(Gln44Leu) NC_000001.11:2228896:A:T Identity +NM_000249.4:c.1345_1357del NP_000240.1:p.Gly449fs NC_000003.12:37025942:GGGGATACAACAA: p.(Gly449ArgfsTer38) NC_000003.12:37025942:GGGGATACAACAA: p.(Gly449ArgfsTer38) NC_000003.12:37025942:GGGGATACAACAA: Analogous +NM_198578.4:c.1347G>A NP_940980.4:p.Met449Ile NC_000012.12:40257305:G:A p.(Met449Ile) NC_000012.12:40257305:G:A p.(Met449Ile) NC_000012.12:40257305:G:A Identity +NM_001353899.1:c.1594A>G NP_001340828.1:p.Thr532Ala NC_000018.10:47100903:A:G p.(Thr532Ala) NC_000018.10:47100903:A:G p.(Thr532Ala) NC_000018.10:47100903:A:G Identity +NM_000384.3:c.13021A>G NP_000375.3:p.Ile4341Val NC_000002.12:21002400:T:C p.(Ile4341Val) NC_000002.12:21002400:T:C p.(Ile4341Val) NC_000002.12:21002400:T:C Identity +NM_001367624.2:c.1363C>A NP_001354553.1:p.Pro455Thr NC_000016.10:88428832:C:A p.(Pro455Thr) NC_000016.10:88428832:C:A p.(Pro455Thr) NC_000016.10:88428832:C:A Identity +NM_173495.3:c.1364C>T NP_775766.2:p.Ala455Val NC_000023.11:23392881:C:T p.(Ala455Val) NC_000023.11:23392881:C:T p.(Ala455Val) NC_000023.11:23392881:C:T Identity +NM_001406874.1:c.1202G>C NP_001393803.1:p.Ser401Thr NC_000007.14:5987394:C:G p.(Ser401Thr) NC_000007.14:5987394:C:G p.(Ser401Thr) NC_000007.14:5987394:C:G Identity +NM_001406506.1:c.906A>C NP_001393435.1:p.Arg302Ser NC_000018.10:31080280:T:G p.(Arg302Ser) NC_000018.10:31080280:T:G p.(Arg302Ser) NC_000018.10:31080280:T:G Identity +NM_006218.4:c.1340C>T NP_006209.2:p.Pro447Leu NC_000003.12:179210273:C:T p.(Pro447Leu) NC_000003.12:179210273:C:T p.(Pro447Leu) NC_000003.12:179210273:C:T Identity +NM_000492.4:c.1349G>T NP_000483.3:p.Arg450Ile NC_000007.14:117548779:G:T p.(Arg450Ile) NC_000007.14:117548779:G:T p.(Arg450Ile) NC_000007.14:117548779:G:T Identity +NM_052947.4:c.1308C>A NP_443179.3:p.His436Gln NC_000018.10:58579467:G:T p.(His436Gln) NC_000018.10:58579467:G:T p.(His436Gln) NC_000018.10:58579467:G:T Identity +NM_000535.7:c.1314G>T NP_000526.2:p.Lys438Asn NC_000007.14:5987450:C:A p.(Lys438Asn) NC_000007.14:5987450:C:A p.(Lys438Asn) NC_000007.14:5987450:C:A Identity +NM_000179.3:c.1372C>T NP_000170.1:p.His458Tyr NC_000002.12:47799354:C:T p.(His458Tyr) NC_000002.12:47799354:C:T p.(His458Tyr) NC_000002.12:47799354:C:T Identity +NM_052947.4:c.1376A>C NP_443179.3:p.Glu459Ala NC_000018.10:58579399:T:G p.(Glu459Ala) NC_000018.10:58579399:T:G p.(Glu459Ala) NC_000018.10:58579399:T:G Identity +NM_000136.3:c.1378A>G NP_000127.2:p.Ser460Gly NC_000009.12:95107220:T:C p.(Ser460Gly) NC_000009.12:95107220:T:C p.(Ser460Gly) NC_000009.12:95107220:T:C Identity +NM_000268.4:c.1354G>A NP_000259.1:p.Asp452Asn NC_000022.11:29674848:G:A p.(Asp452Asn) NC_000022.11:29674848:G:A p.(Asp452Asn) NC_000022.11:29674848:G:A Identity +NM_000492.4:c.1390A>C NP_000483.3:p.Lys464Gln NC_000007.14:117548820:A:C p.(Lys464Gln) NC_000007.14:117548820:A:C p.(Lys464Gln) NC_000007.14:117548820:A:C Identity +NM_001098623.2:c.13915G>A NP_001092093.2:p.Glu4639Lys NC_000001.11:228317956:G:A p.(Glu4639Lys) NC_000001.11:228317956:G:A p.(Glu4639Lys) NC_000001.11:228317956:G:A Identity +NM_001363813.1:c.1394G>C NP_001350742.1:p.Arg465Pro NC_000017.11:65537641:C:G p.(Arg465Pro) NC_000017.11:65537641:C:G p.(Arg465Pro) NC_000017.11:65537641:C:G Identity +NM_000264.5:c.1399G>A NP_000255.2:p.Gly467Ser NC_000009.12:95477650:C:T p.(Gly467Ser) NC_000009.12:95477650:C:T p.(Gly467Ser) NC_000009.12:95477650:C:T Identity +NM_001278616.2:c.1339G>A NP_001265545.1:p.Ala447Thr NC_000002.12:110658619:C:T p.(Ala447Thr) NC_000002.12:110658619:C:T p.(Ala447Thr) NC_000002.12:110658619:C:T Identity +NM_002907.4:c.1033C>T NP_002898.2:p.His345Tyr NC_000012.12:21475740:G:A p.(His345Tyr) NC_000012.12:21475740:G:A p.(His345Tyr) NC_000012.12:21475740:G:A Identity +NM_000143.4:c.1413dup NP_000134.2:p.Ala472fs NC_000001.11:241497947:AA:AAA p.(Ala472CysfsTer2) NC_000001.11:241497947:AA:AAA p.(Ala472CysfsTer2) ERR:SPDI Analogous +NM_001166108.2:c.1411C>A NP_001159580.1:p.Gln471Lys NC_000004.12:168690677:C:A p.(Gln471Lys) NC_000004.12:168690677:C:A p.(Gln471Lys) NC_000004.12:168690677:C:A Identity +NM_024642.5:c.1417C>A NP_078918.3:p.Gln473Lys NC_000009.12:98844167:C:A p.(Gln473Lys) NC_000009.12:98844167:C:A p.(Gln473Lys) NC_000009.12:98844167:C:A Identity +NM_002439.5:c.1418C>G NP_002430.3:p.Thr473Arg NC_000005.10:80725529:C:G p.(Thr473Arg) NC_000005.10:80725529:C:G p.(Thr473Arg) NC_000005.10:80725529:C:G Identity +NM_030777.4:c.1420G>A NP_110404.1:p.Gly474Ser NC_000020.11:46729360:G:A p.(Gly474Ser) NC_000020.11:46729360:G:A p.(Gly474Ser) NC_000020.11:46729360:G:A Identity +NM_001349253.2:c.1428del NP_001336182.1:p.Asp477fs NC_000003.12:38907993:TTT:TT p.(Asp477ThrfsTer19) NC_000003.12:38907993:TTT:TT p.(Asp477ThrfsTer19) NC_000003.12:38907993:T: Analogous +NM_001142548.2:c.1385T>C NP_001136020.1:p.Leu462Pro NC_000001.11:46273363:T:C p.(Leu462Pro) NC_000001.11:46273363:T:C p.(Leu462Pro) NC_000001.11:46273363:T:C Identity +NM_004281.4:c.1450G>A NP_004272.2:p.Val484Ile NC_000010.11:119677003:G:A p.(Val484Ile) NC_000010.11:119677003:G:A p.(Val484Ile) NC_000010.11:119677003:G:A Identity +NM_000724.4:c.1459C>G NP_000715.2:p.Arg487Gly NC_000010.11:18539364:C:G p.(Arg487Gly) NC_000010.11:18539364:C:G p.(Arg487Gly) NC_000010.11:18539364:C:G Identity +NM_001321307.1:c.1484C>G NP_001308236.1:p.Pro495Arg NC_000011.10:108173499:G:C p.(Pro495Arg) NC_000011.10:108173499:G:C p.(Pro495Arg) NC_000011.10:108173499:G:C Identity +NM_002439.5:c.1488G>C NP_002430.3:p.Glu496Asp NC_000005.10:80728884:G:C p.(Glu496Asp) NC_000005.10:80728884:G:C p.(Glu496Asp) NC_000005.10:80728884:G:C Identity +NM_006767.4:c.1490C>T NP_006758.2:p.Pro497Leu NC_000022.11:20994143:C:T p.(Pro497Leu) NC_000022.11:20994143:C:T p.(Pro497Leu) NC_000022.11:20994143:C:T Identity +NM_001039885.3:c.1040T>A NP_001034974.1:p.Leu347Gln NC_000019.10:46756489:T:A p.(Leu347Gln) NC_000019.10:46756489:T:A p.(Leu347Gln) NC_000019.10:46756489:T:A Identity +NM_001407041.1:c.1507_1508insATCC NP_001393970.1:p.Met503Asnfs NC_000018.10:51078315::ATCC p.(Met503AsnfsTer25) NC_000018.10:51078314:A:ATCC p.(Met503AsnfsTer25) NC_000018.10:51078315:AT:ATCC Analogous +NM_000222.3:c.1539A>T NP_000213.1:p.Lys513Asn NC_000004.12:54726048:A:T p.(Lys513Asn) NC_000004.12:54726048:A:T p.(Lys513Asn) NC_000004.12:54726048:A:T Identity +NM_000492.4:c.1541A>G NP_000483.3:p.Glu514Gly NC_000007.14:117559611:A:G p.(Glu514Gly) NC_000007.14:117559611:A:G p.(Glu514Gly) NC_000007.14:117559611:A:G Identity +NM_000179.3:c.1548C>G NP_000170.1:p.Ile516Met NC_000002.12:47799530:C:G p.(Ile516Met) NC_000002.12:47799530:C:G p.(Ile516Met) NC_000002.12:47799530:C:G Identity +NM_001166108.2:c.1550G>C NP_001159580.1:p.Gly517Ala NC_000004.12:168709075:G:C p.(Gly517Ala) NC_000004.12:168709075:G:C p.(Gly517Ala) NC_000004.12:168709075:G:C Identity +NM_001130144.3:c.1567T>C NP_001123616.1:p.Ser523Pro NC_000011.10:65551455:A:G p.(Ser523Pro) NC_000011.10:65551455:A:G p.(Ser523Pro) NC_000011.10:65551455:A:G Identity +NM_005431.2:c.158G>C NP_005422.1:p.Gly53Ala NC_000007.14:152649326:C:G p.(Gly53Ala) NC_000007.14:152649326:C:G p.(Gly53Ala) NC_000007.14:152649326:C:G Identity +NM_001868.4:c.158G>C NP_001859.1:p.Trp53Ser NC_000007.14:130381639:G:C p.(Trp53Ser) NC_000007.14:130381639:G:C p.(Trp53Ser) NC_000007.14:130381639:G:C Identity +NM_005732.4:c.1598C>T NP_005723.2:p.Thr533Ile NC_000005.10:132591368:C:T p.(Thr533Ile) NC_000005.10:132591368:C:T p.(Thr533Ile) NC_000005.10:132591368:C:T Identity +NM_000192.3:c.1029G>A NP_000183.2:p.Met343Ile NC_000012.12:114356059:C:T p.(Met343Ile) NC_000012.12:114356059:C:T p.(Met343Ile) NC_000012.12:114356059:C:T Identity +NM_001007793.3:c.134C>G NP_001007794.1:p.Pro45Arg NC_000010.11:123155050:C:G p.(Pro45Arg) NC_000010.11:123155050:C:G p.(Pro45Arg) NC_000010.11:123155050:C:G Identity +NM_000136.3:c.1432G>T NP_000127.2:p.Asp478Tyr NC_000009.12:95107166:C:A p.(Asp478Tyr) NC_000009.12:95107166:C:A p.(Asp478Tyr) NC_000009.12:95107166:C:A Identity +NM_001184.4:c.1033G>C NP_001175.2:p.Ala345Pro NC_000003.12:142562368:C:G p.(Ala345Pro) NC_000003.12:142562368:C:G p.(Ala345Pro) NC_000003.12:142562368:C:G Identity +NM_001178133.2:c.140A>C NP_001171604.1:p.Asp47Ala NC_000010.11:102504291:A:C p.(Asp47Ala) NC_000010.11:102504291:A:C p.(Asp47Ala) NC_000010.11:102504291:A:C Identity +NM_001347827.2:c.1424A>G NP_001334756.1:p.Glu475Gly NC_000004.12:54273595:A:G p.(Glu475Gly) NC_000004.12:54273595:A:G p.(Glu475Gly) NC_000004.12:54273595:A:G Identity +NM_006767.4:c.1426C>T NP_006758.2:p.Gln476Ter NC_000022.11:20993995:C:T p.(Gln476Ter) NC_000022.11:20993995:C:T p.(Gln476Ter) NC_000022.11:20993995:C:T Identity +NM_000249.4:c.1428T>G NP_000240.1:p.Asp476Glu NC_000003.12:37028801:T:G p.(Asp476Glu) NC_000003.12:37028801:T:G p.(Asp476Glu) NC_000003.12:37028801:T:G Identity +NM_000251.3:c.1035G>C NP_000242.1:p.Trp345Cys NC_000002.12:47416387:G:C p.(Trp345Cys) NC_000002.12:47416387:G:C p.(Trp345Cys) NC_000002.12:47416387:G:C Identity +NM_001367624.2:c.1432C>G NP_001354553.1:p.Gln478Glu NC_000016.10:88428901:C:G p.(Gln478Glu) NC_000016.10:88428901:C:G p.(Gln478Glu) NC_000016.10:88428901:C:G Identity +NM_001365276.2:c.10369G>A NP_001352205.1:p.Val3457Met NC_000006.12:32046411:C:T p.(Val3457Met) NC_000006.12:32046411:C:T p.(Val3457Met) NC_000006.12:32046411:C:T Identity +NM_015627.3:c.102C>A NP_056442.2:p.Asn34Lys NC_000001.11:25553934:C:A p.(Asn34Lys) NC_000001.11:25553934:C:A p.(Asn34Lys) NC_000001.11:25553934:C:A Identity +NM_000249.4:c.1363del NP_000240.1:p.Thr455fs NC_000003.12:37025960:A: p.(Thr455LeufsTer36) NC_000003.12:37025960:A: p.(Thr455LeufsTer36) NC_000003.12:37025960:A: Analogous +NM_001081640.2:c.1037A>G NP_001075109.1:p.Tyr346Cys NC_000008.11:47939626:T:C p.(Tyr346Cys) NC_000008.11:47939626:T:C p.(Tyr346Cys) NC_000008.11:47939626:T:C Identity +NM_001184.4:c.1449G>T NP_001175.2:p.Lys483Asn NC_000003.12:142560354:C:A p.(Lys483Asn) NC_000003.12:142560354:C:A p.(Lys483Asn) NC_000003.12:142560354:C:A Identity +NM_001321307.1:c.1037G>A NP_001308236.1:p.Ser346Asn NC_000011.10:108176340:C:T p.(Ser346Asn) NC_000011.10:108176340:C:T p.(Ser346Asn) NC_000011.10:108176340:C:T Identity +NM_001352020.1:c.145T>G NP_001338949.1:p.Phe49Val NC_000016.10:970835:A:C p.(Phe49Val) NC_000016.10:970835:A:C p.(Phe49Val) NC_000016.10:970835:A:C Identity +NM_001040108.2:c.1444G>A NP_001035197.1:p.Gly482Arg NC_000014.9:75048211:C:T p.(Gly482Arg) NC_000014.9:75048211:C:T p.(Gly482Arg) NC_000014.9:75048211:C:T Identity +NM_001127493.3:c.1381T>C NP_001120965.1:p.Cys461Arg NC_000004.12:113264953:T:C p.(Cys461Arg) NC_000004.12:113264953:T:C p.(Cys461Arg) NC_000004.12:113264953:T:C Identity +NM_001098623.2:c.1449C>G NP_001092093.2:p.Cys483Trp NC_000001.11:228214363:C:G p.(Cys483Trp) NC_000001.11:228214363:C:G p.(Cys483Trp) NC_000001.11:228214363:C:G Identity +NM_001142548.2:c.104G>A NP_001136020.1:p.Arg35Gln NC_000001.11:46250012:G:A p.(Arg35Gln) NC_000001.11:46250012:G:A p.(Arg35Gln) NC_000001.11:46250012:G:A Identity +NM_001406806.1:c.851C>T NP_001393735.1:p.Ser284Phe NC_000002.12:47799358:C:T p.(Ser284Phe) NC_000002.12:47799358:C:T p.(Ser284Phe) NC_000002.12:47799358:C:T Identity +NM_001374321.1:c.1376G>A NP_001361250.1:p.Gly459Glu NC_000008.11:100213368:G:A p.(Gly459Glu) NC_000008.11:100213368:G:A p.(Gly459Glu) NC_000008.11:100213368:G:A Identity +NM_001407894.1:c.1165A>C NP_001394823.1:p.Ile389Leu NC_000017.11:43094152:T:G p.(Ile389Leu) NC_000017.11:43094152:T:G p.(Ile389Leu) NC_000017.11:43094152:T:G Identity +NM_001211.6:c.1478C>G NP_001202.5:p.Thr493Ser NC_000015.10:40200319:C:G p.(Thr493Ser) NC_000015.10:40200319:C:G p.(Thr493Ser) NC_000015.10:40200319:C:G Identity +NM_199420.4:c.1462A>C NP_955452.3:p.Thr488Pro NC_000003.12:121519876:T:G p.(Thr488Pro) NC_000003.12:121519876:T:G p.(Thr488Pro) NC_000003.12:121519876:T:G Identity +NM_001130916.3:c.1235A>C NP_001124388.1:p.Lys412Thr NC_000009.12:99149258:A:C p.(Lys412Thr) NC_000009.12:99149258:A:C p.(Lys412Thr) NC_000009.12:99149258:A:C Identity +NM_000251.3:c.1468_1469dup NP_000242.1:p.Lys491fs NC_000002.12:47463109:AAAA:AAAAAA p.(Lys491ArgfsTer7) NC_000002.12:47463109:AAAA:AAAAAA p.(Lys491ArgfsTer7) ERR:SPDI Analogous +NM_000251.3:c.1642G>A NP_000242.1:p.Gly548Ser NC_000002.12:47466788:G:A p.(Gly548Ser) NC_000002.12:47466788:G:A p.(Gly548Ser) NC_000002.12:47466788:G:A Identity +NM_000179.3:c.1649del NP_000170.1:p.Ser550fs NC_000002.12:47799631:C: p.(Ser550LeufsTer21) NC_000002.12:47799631:C: p.(Ser550LeufsTer21) NC_000002.12:47799631:C: Analogous +NM_000059.4:c.1654T>G NP_000050.3:p.Ser552Ala NC_000013.11:32333131:T:G p.(Ser552Ala) NC_000013.11:32333131:T:G p.(Ser552Ala) NC_000013.11:32333131:T:G Identity +NM_004444.5:c.1655T>G NP_004435.3:p.Val552Gly NC_000007.14:100813954:A:C p.(Val552Gly) NC_000007.14:100813954:A:C p.(Val552Gly) NC_000007.14:100813954:A:C Identity +NM_004304.5:c.1384G>T NP_004295.2:p.Ala462Ser NC_000002.12:29328379:C:A p.(Ala462Ser) NC_000002.12:29328379:C:A p.(Ala462Ser) NC_000002.12:29328379:C:A Identity +NM_006231.4:c.1394C>A NP_006222.2:p.Ala465Asp NC_000012.12:132673242:G:T p.(Ala465Asp) NC_000012.12:132673242:G:T p.(Ala465Asp) NC_000012.12:132673242:G:T Identity +NM_001357321.2:c.1478T>C NP_001344250.1:p.Phe493Ser NC_000002.12:43874475:T:C p.(Phe493Ser) NC_000002.12:43874475:T:C p.(Phe493Ser) NC_000002.12:43874475:T:C Identity +NM_001098623.2:c.14839G>A NP_001092093.2:p.Asp4947Asn NC_000001.11:228321679:G:A p.(Asp4947Asn) NC_000001.11:228321679:G:A p.(Asp4947Asn) NC_000001.11:228321679:G:A Identity +NM_001278616.2:c.1601G>C NP_001265545.1:p.Gly534Ala NC_000002.12:110657072:C:G p.(Gly534Ala) NC_000002.12:110657072:C:G p.(Gly534Ala) NC_000002.12:110657072:C:G Identity +NM_001081640.2:c.10532C>A NP_001075109.1:p.Ala3511Asp NC_000008.11:47794427:G:T p.(Ala3511Asp) NC_000008.11:47794427:G:T p.(Ala3511Asp) NC_000008.11:47794427:G:T Identity +NM_001135242.2:c.149G>C NP_001128714.1:p.Gly50Ala NC_000008.11:133264602:C:G p.(Gly50Ala) NC_000008.11:133264602:C:G p.(Gly50Ala) NC_000008.11:133264602:C:G Identity +NM_014908.4:c.1503_1504insTTGGTCCATCC NP_055723.1:p.Ser502fs NC_000009.12:128945800:G:GGATGGACCAAG p.(Ser502LeufsTer26) NC_000009.12:128945799:T:GGATGGACCAA p.(Ser502LeufsTer26) NC_000009.12:128945800:TG:GGATGGACCAA Analogous +NM_000722.4:c.1507C>T NP_000713.2:p.Arg503Cys NC_000007.14:82005772:G:A p.(Arg503Cys) NC_000007.14:82005772:G:A p.(Arg503Cys) NC_000007.14:82005772:G:A Identity +NM_001352017.2:c.861G>A NP_001338946.1:p.Ala287= NC_000016.10:868960:C:T p.(Ala287=) NC_000016.10:868960:C:T p.(Ala287=) NC_000016.10:868960:C:T Identity +NM_001130846.4:c.392C>G NP_001124318.2:p.Thr131Ser NC_000023.11:130133351:G:C p.(Thr131Ser) NC_000023.11:130133351:G:C p.(Thr131Ser) NC_000023.11:130133351:G:C Identity +NM_001363813.1:c.1498C>T NP_001350742.1:p.Leu500Phe NC_000017.11:65537537:G:A p.(Leu500Phe) NC_000017.11:65537537:G:A p.(Leu500Phe) NC_000017.11:65537537:G:A Identity +NM_001166108.2:c.1507A>G NP_001159580.1:p.Ile503Val NC_000004.12:168709032:A:G p.(Ile503Val) NC_000004.12:168709032:A:G p.(Ile503Val) NC_000004.12:168709032:A:G Identity +NM_032043.3:c.1676C>A NP_114432.2:p.Thr559Lys NC_000017.11:61780957:G:T p.(Thr559Lys) NC_000017.11:61780957:G:T p.(Thr559Lys) NC_000017.11:61780957:G:T Identity +NM_001098623.2:c.16798G>A NP_001092093.2:p.Glu5600Lys NC_000001.11:228337380:G:A p.(Glu5600Lys) NC_000001.11:228337380:G:A p.(Glu5600Lys) NC_000001.11:228337380:G:A Identity +NM_001144769.5:c.167G>A NP_001138241.1:p.Arg56His NC_000006.12:56954420:C:T p.(Arg56His) NC_000006.12:56954420:C:T p.(Arg56His) NC_000006.12:56954420:C:T Identity +NM_001024688.3:c.1444del NP_001019859.1:p.Glu482fs NC_000008.11:89953398:CC:C p.(Glu482AsnfsTer11) NC_000008.11:89953398:CC:C p.(Glu482AsnfsTer11) NC_000008.11:89953398:C: Analogous +NM_024642.5:c.1691G>T NP_078918.3:p.Arg564Leu NC_000009.12:98849036:G:T p.(Arg564Leu) NC_000009.12:98849036:G:T p.(Arg564Leu) NC_000009.12:98849036:G:T Identity +NM_000057.4:c.1513T>G NP_000048.1:p.Trp505Gly NC_000015.10:90760885:T:G p.(Trp505Gly) NC_000015.10:90760885:T:G p.(Trp505Gly) NC_000015.10:90760885:T:G Identity +NM_001256849.1:c.1420C>A NP_001243778.1:p.Leu474Ile NC_000019.10:50406442:C:A p.(Leu474Ile) NC_000019.10:50406442:C:A p.(Leu474Ile) NC_000019.10:50406442:C:A Identity +NM_020778.5:c.904C>A NP_065829.4:p.Leu302Met NC_000015.10:84840182:C:A p.(Leu302Met) NC_000015.10:84840182:C:A p.(Leu302Met) NC_000015.10:84840182:C:A Identity +NM_032043.3:c.1043del NP_114432.2:p.Lys348fs NC_000017.11:61801349:TTT:TT p.(Lys348ArgfsTer11) NC_000017.11:61801349:TTT:TT p.(Lys348ArgfsTer11) NC_000017.11:61801349:T: Analogous +NM_000492.4:c.1543T>G NP_000483.3:p.Tyr515Asp NC_000007.14:117559613:T:G p.(Tyr515Asp) NC_000007.14:117559613:T:G p.(Tyr515Asp) NC_000007.14:117559613:T:G Identity +NM_001142548.2:c.1429G>T NP_001136020.1:p.Ala477Ser NC_000001.11:46273407:G:T p.(Ala477Ser) NC_000001.11:46273407:G:T p.(Ala477Ser) NC_000001.11:46273407:G:T Identity +NM_001098623.2:c.14309G>A NP_001092093.2:p.Arg4770His NC_000001.11:228319060:G:A p.(Arg4770His) NC_000001.11:228319060:G:A p.(Arg4770His) NC_000001.11:228319060:G:A Identity +NM_001184.4:c.1432G>A NP_001175.2:p.Glu478Lys NC_000003.12:142560371:C:T p.(Glu478Lys) NC_000003.12:142560371:C:T p.(Glu478Lys) NC_000003.12:142560371:C:T Identity +NM_001282403.2:c.143C>T NP_001269332.1:p.Pro48Leu NC_000007.14:76054905:C:T p.(Pro48Leu) NC_000007.14:76054905:C:T p.(Pro48Leu) NC_000007.14:76054905:C:T Identity +NM_001023.4:c.143T>C NP_001014.1:p.Leu48Pro NC_000008.11:56073728:A:G p.(Leu48Pro) NC_000008.11:56073728:A:G p.(Leu48Pro) NC_000008.11:56073728:A:G Identity +NM_001256182.2:c.1561T>G NP_001243111.1:p.Ser521Ala NC_000016.10:89284980:A:C p.(Ser521Ala) NC_000016.10:89284980:A:C p.(Ser521Ala) NC_000016.10:89284980:A:C Identity +NM_006767.4:c.1037A>G NP_006758.2:p.Glu346Gly NC_000022.11:20992256:A:G p.(Glu346Gly) NC_000022.11:20992256:A:G p.(Glu346Gly) NC_000022.11:20992256:A:G Identity +NM_199420.4:c.1547G>A NP_955452.3:p.Arg516His NC_000003.12:121511950:C:T p.(Arg516His) NC_000003.12:121511950:C:T p.(Arg516His) NC_000003.12:121511950:C:T Identity +NM_018975.4:c.154A>T NP_061848.2:p.Thr52Ser NC_000016.10:75648035:A:T p.(Thr52Ser) NC_000016.10:75648035:A:T p.(Thr52Ser) NC_000016.10:75648035:A:T Identity +NM_001363813.1:c.1565A>G NP_001350742.1:p.His522Arg NC_000017.11:65537470:T:C p.(His522Arg) NC_000017.11:65537470:T:C p.(His522Arg) NC_000017.11:65537470:T:C Identity +NM_001098623.2:c.15682G>T NP_001092093.2:p.Asp5228Tyr NC_000001.11:228332888:G:T p.(Asp5228Tyr) NC_000001.11:228332888:G:T p.(Asp5228Tyr) NC_000001.11:228332888:G:T Identity +NM_001048171.2:c.1489G>T NP_001041636.2:p.Gly497Cys NC_000001.11:45329382:C:A p.(Gly497Cys) NC_000001.11:45329382:C:A p.(Gly497Cys) NC_000001.11:45329382:C:A Identity +NM_001352017.2:c.924G>A NP_001338946.1:p.Gly308= NC_000016.10:854660:C:T p.(Gly308=) NC_000016.10:854660:C:T p.(Gly308=) NC_000016.10:854660:C:T Identity +NM_024642.5:c.1576C>T NP_078918.3:p.Pro526Ser NC_000009.12:98846093:C:T p.(Pro526Ser) NC_000009.12:98846093:C:T p.(Pro526Ser) NC_000009.12:98846093:C:T Identity +NM_001367624.2:c.1466C>T NP_001354553.1:p.Pro489Leu NC_000016.10:88428935:C:T p.(Pro489Leu) NC_000016.10:88428935:C:T p.(Pro489Leu) NC_000016.10:88428935:C:T Identity +NM_000465.4:c.1474dup NP_000456.2:p.Tyr492fs NC_000002.12:214767575:A:AA p.(Tyr492LeufsTer4) NC_000002.12:214767575:A:AA p.(Tyr492LeufsTer4) ERR:SPDI Analogous +NM_032043.3:c.1475G>A NP_114432.2:p.Gly492Glu NC_000017.11:61784422:C:T p.(Gly492Glu) NC_000017.11:61784422:C:T p.(Gly492Glu) NC_000017.11:61784422:C:T Identity +NM_000057.4:c.1478A>G NP_000048.1:p.Asn493Ser NC_000015.10:90760850:A:G p.(Asn493Ser) NC_000015.10:90760850:A:G p.(Asn493Ser) NC_000015.10:90760850:A:G Identity +NM_000244.4:c.1493del NP_000235.3:p.Pro498fs NC_000011.10:64804688:GGGGG:GGGG p.(Pro498ArgfsTer66) NC_000011.10:64804688:GGGGG:GGGG p.(Pro498ArgfsTer66) NC_000011.10:64804688:G: Analogous +NM_001293306.2:c.158C>T NP_001280235.2:p.Pro53Leu NC_000003.12:38793852:G:A p.(Pro53Leu) NC_000003.12:38793852:G:A p.(Pro53Leu) NC_000003.12:38793852:G:A Identity +NM_000136.3:c.1594A>G NP_000127.2:p.Arg532Gly NC_000009.12:95101789:T:C p.(Arg532Gly) NC_000009.12:95101789:T:C p.(Arg532Gly) NC_000009.12:95101789:T:C Identity +NM_001098623.2:c.10469A>G NP_001092093.2:p.Asp3490Gly NC_000001.11:228292026:A:G p.(Asp3490Gly) NC_000001.11:228292026:A:G p.(Asp3490Gly) NC_000001.11:228292026:A:G Identity +NM_000251.3:c.1486_1492del NP_000242.1:p.Leu496fs NC_000002.12:47463128:ATTAATAA:A p.(Leu496ValfsTer28) NC_000002.12:47463128:ATTAATAA:A p.(Leu496ValfsTer28) NC_000002.12:47463129:TTAATAA: Analogous +NM_001354966.2:c.103G>T NP_001341895.1:p.Glu35Ter NC_000005.10:147828112:C:A p.(Glu35Ter) NC_000005.10:147828112:C:A p.(Glu35Ter) NC_000005.10:147828112:C:A Identity +NM_001256849.1:c.1606G>T NP_001243778.1:p.Ala536Ser NC_000019.10:50407093:G:T p.(Ala536Ser) NC_000019.10:50407093:G:T p.(Ala536Ser) NC_000019.10:50407093:G:T Identity +NM_000548.5:c.1606G>T NP_000539.2:p.Ala536Ser NC_000016.10:2065524:G:T p.(Ala536Ser) NC_000016.10:2065524:G:T p.(Ala536Ser) NC_000016.10:2065524:G:T Identity +NM_001300823.2:c.1516C>T NP_001287752.1:p.Arg506Cys NC_000004.12:120754566:G:A p.(Arg506Cys) NC_000004.12:120754566:G:A p.(Arg506Cys) NC_000004.12:120754566:G:A Identity +NM_000321.3:c.1049G>A NP_000312.2:p.Ser350Asn NC_000013.11:48367602:G:A p.(Ser350Asn) NC_000013.11:48367602:G:A p.(Ser350Asn) NC_000013.11:48367602:G:A Identity +NM_014845.6:c.1575T>A NP_055660.1:p.Asp525Glu NC_000006.12:109765152:T:A p.(Asp525Glu) NC_000006.12:109765152:T:A p.(Asp525Glu) NC_000006.12:109765152:T:A Identity +NM_004304.5:c.1577T>A NP_004295.2:p.Val526Asp NC_000002.12:29318373:A:T p.(Val526Asp) NC_000002.12:29318373:A:T p.(Val526Asp) NC_000002.12:29318373:A:T Identity +NM_001365276.2:c.10480C>G NP_001352205.1:p.Pro3494Ala NC_000006.12:32046300:G:C p.(Pro3494Ala) NC_000006.12:32046300:G:C p.(Pro3494Ala) NC_000006.12:32046300:G:C Identity +NM_001792.5:c.149A>G NP_001783.2:p.His50Arg NC_000018.10:28147695:T:C p.(His50Arg) NC_000018.10:28147695:T:C p.(His50Arg) NC_000018.10:28147695:T:C Identity +NM_017802.4:c.1508C>T NP_060272.3:p.Ala503Val NC_000007.14:761789:C:T p.(Ala503Val) NC_000007.14:761789:C:T p.(Ala503Val) NC_000007.14:761789:C:T Identity +NM_001346599.2:c.1396A>G NP_001333528.1:p.Asn466Asp NC_000007.14:105555185:A:G p.(Asn466Asp) NC_000007.14:105555185:A:G p.(Asn466Asp) NC_000007.14:105555185:A:G Identity +NM_001352017.2:c.987G>A NP_001338946.1:p.Pro329= NC_000016.10:854597:C:T p.(Pro329=) NC_000016.10:854597:C:T p.(Pro329=) NC_000016.10:854597:C:T Identity +NM_001318193.2:c.139G>C NP_001305122.2:p.Val47Leu NC_000016.10:2046342:C:G p.(Val47Leu) NC_000016.10:2046342:C:G p.(Val47Leu) NC_000016.10:2046342:C:G Identity +NM_001040108.2:c.1609A>T NP_001035197.1:p.Met537Leu NC_000014.9:75048046:T:A p.(Met537Leu) NC_000014.9:75048046:T:A p.(Met537Leu) NC_000014.9:75048046:T:A Identity +NM_001098623.2:c.16128G>T NP_001092093.2:p.Arg5376Ser NC_000001.11:228334854:G:T p.(Arg5376Ser) NC_000001.11:228334854:G:T p.(Arg5376Ser) NC_000001.11:228334854:G:T Identity +NM_002432.3:c.1049T>C NP_002423.1:p.Val350Ala NC_000001.11:158847788:T:C p.(Val350Ala) NC_000001.11:158847788:T:C p.(Val350Ala) NC_000001.11:158847788:T:C Identity +NM_001290307.3:c.1517C>A NP_001277236.1:p.Thr506Asn NC_000005.10:138917868:C:A p.(Thr506Asn) NC_000005.10:138917868:C:A p.(Thr506Asn) NC_000005.10:138917868:C:A Identity +NM_000192.3:c.1519G>A NP_000183.2:p.Gly507Arg NC_000012.12:114355569:C:T p.(Gly507Arg) NC_000012.12:114355569:C:T p.(Gly507Arg) NC_000012.12:114355569:C:T Identity +NM_001256850.1:c.10561A>G NP_001243779.1:p.Thr3521Ala NC_000002.12:178741720:T:C p.(Thr3521Ala) NC_000002.12:178741720:T:C p.(Thr3521Ala) NC_000002.12:178741720:T:C Identity +NM_001330209.2:c.1529A>T NP_001317138.1:p.Gln510Leu NC_000023.11:13758442:A:T p.(Gln510Leu) NC_000023.11:13758442:A:T p.(Gln510Leu) NC_000023.11:13758442:A:T Identity +NM_000118.4:c.1655C>T NP_000109.1:p.Ala552Val NC_000009.12:127818150:G:A p.(Ala552Val) NC_000009.12:127818150:G:A p.(Ala552Val) NC_000009.12:127818150:G:A Identity +NM_001868.4:c.161G>A NP_001859.1:p.Arg54Gln NC_000007.14:130381642:G:A p.(Arg54Gln) NC_000007.14:130381642:G:A p.(Arg54Gln) NC_000007.14:130381642:G:A Identity +NM_001346599.2:c.1402A>T NP_001333528.1:p.Ile468Phe NC_000007.14:105555191:A:T p.(Ile468Phe) NC_000007.14:105555191:A:T p.(Ile468Phe) NC_000007.14:105555191:A:T Identity +NM_001014431.2:c.1052A>G NP_001014431.1:p.Asn351Ser NC_000014.9:104772997:T:C p.(Asn351Ser) NC_000014.9:104772997:T:C p.(Asn351Ser) NC_000014.9:104772997:T:C Identity +NM_000249.4:c.1664T>A NP_000240.1:p.Leu555His NC_000003.12:37040290:T:A p.(Leu555His) NC_000003.12:37040290:T:A p.(Leu555His) NC_000003.12:37040290:T:A Identity +NM_001166108.2:c.1672C>A NP_001159580.1:p.His558Asn NC_000004.12:168711630:C:A p.(His558Asn) NC_000004.12:168711630:C:A p.(His558Asn) NC_000004.12:168711630:C:A Identity +NM_000249.4:c.1673_1676dup NP_000240.1:p.Phe560fs NC_000003.12:37042272:AACT:AACTAACT p.(Phe560ThrfsTer9) NC_000003.12:37042272:AACT:AACTAACT p.(Phe560ThrfsTer9) ERR:SPDI Analogous +NM_004444.5:c.163G>A NP_004435.3:p.Val55Met NC_000007.14:100823891:C:T p.(Val55Met) NC_000007.14:100823891:C:T p.(Val55Met) NC_000007.14:100823891:C:T Identity +NM_001024688.3:c.1401A>T NP_001019859.1:p.Lys467Asn NC_000008.11:89953441:T:A p.(Lys467Asn) NC_000008.11:89953441:T:A p.(Lys467Asn) NC_000008.11:89953441:T:A Identity +NM_000251.3:c.1649A>C NP_000242.1:p.Lys550Thr NC_000002.12:47466795:A:C p.(Lys550Thr) NC_000002.12:47466795:A:C p.(Lys550Thr) NC_000002.12:47466795:A:C Identity +NM_000038.6:c.1051G>A NP_000029.2:p.Gly351Arg NC_000005.10:112819082:G:A p.(Gly351Arg) NC_000005.10:112819082:G:A p.(Gly351Arg) NC_000005.10:112819082:G:A Identity +NM_000535.7:c.167T>C NP_000526.2:p.Leu56Pro NC_000007.14:6004054:A:G p.(Leu56Pro) NC_000007.14:6004054:A:G p.(Leu56Pro) NC_000007.14:6004054:A:G Identity +NM_006767.4:c.1681C>T NP_006758.2:p.Arg561Cys NC_000022.11:20994622:C:T p.(Arg561Cys) NC_000022.11:20994622:C:T p.(Arg561Cys) NC_000022.11:20994622:C:T Identity +NM_001128844.3:c.1054A>T NP_001122316.1:p.Ile352Phe NC_000019.10:10987859:A:T p.(Ile352Phe) NC_000019.10:10987859:A:T p.(Ile352Phe) NC_000019.10:10987859:A:T Identity +NM_002439.5:c.1670A>T NP_002430.3:p.Lys557Ile NC_000005.10:80744521:A:T p.(Lys557Ile) NC_000005.10:80744521:A:T p.(Lys557Ile) NC_000005.10:80744521:A:T Identity +NM_000057.4:c.1672A>G NP_000048.1:p.Ile558Val NC_000015.10:90761044:A:G p.(Ile558Val) NC_000015.10:90761044:A:G p.(Ile558Val) NC_000015.10:90761044:A:G Identity +NM_000251.3:c.1705G>T NP_000242.1:p.Glu569Ter NC_000002.12:47471007:G:T p.(Glu569Ter) NC_000002.12:47471007:G:T p.(Glu569Ter) NC_000002.12:47471007:G:T Identity +NM_001282386.1:c.1043A>G NP_001269315.1:p.Asn348Ser NC_000002.12:208239181:T:C p.(Asn348Ser) NC_000002.12:208239181:T:C p.(Asn348Ser) NC_000002.12:208239181:T:C Identity +NM_001352017.2:c.887G>A NP_001338946.1:p.Arg296Gln NC_000016.10:854697:C:T p.(Arg296Gln) NC_000016.10:854697:C:T p.(Arg296Gln) NC_000016.10:854697:C:T Identity +NM_000192.3:c.1546G>A NP_000183.2:p.Asp516Asn NC_000012.12:114355542:C:T p.(Asp516Asn) NC_000012.12:114355542:C:T p.(Asp516Asn) NC_000012.12:114355542:C:T Identity +NM_001130846.4:c.659A>G NP_001124318.2:p.Asp220Gly NC_000023.11:130130063:T:C p.(Asp220Gly) NC_000023.11:130130063:T:C p.(Asp220Gly) NC_000023.11:130130063:T:C Identity +NM_001411127.1:c.452G>T NP_001398056.1:p.Ser151Ile NC_000019.10:40403722:C:A p.(Ser151Ile) NC_000019.10:40403722:C:A p.(Ser151Ile) NC_000019.10:40403722:C:A Identity +NM_001008844.3:c.1561G>C NP_001008844.1:p.Asp521His NC_000006.12:7569326:G:C p.(Asp521His) NC_000006.12:7569326:G:C p.(Asp521His) NC_000006.12:7569326:G:C Identity +NM_001304420.3:c.1747G>A NP_001291349.1:p.Glu583Lys NC_000003.12:57912478:G:A p.(Glu583Lys) NC_000003.12:57912478:G:A p.(Glu583Lys) NC_000003.12:57912478:G:A Identity +NM_001128844.3:c.169C>G NP_001122316.1:p.Pro57Ala NC_000019.10:10984319:C:G p.(Pro57Ala) NC_000019.10:10984319:C:G p.(Pro57Ala) NC_000019.10:10984319:C:G Identity +NM_000542.5:c.1010A>T NP_000533.4:p.Gln337Leu NC_000002.12:85662101:T:A p.(Gln337Leu) NC_000002.12:85662101:T:A p.(Gln337Leu) NC_000002.12:85662101:T:A Identity +NM_007272.3:c.157G>A NP_009203.2:p.Asp53Asn NC_000001.11:15440516:G:A p.(Asp53Asn) NC_000001.11:15440516:G:A p.(Asp53Asn) NC_000001.11:15440516:G:A Identity +NM_001142548.2:c.1703T>C NP_001136020.1:p.Val568Ala NC_000001.11:46274550:T:C p.(Val568Ala) NC_000001.11:46274550:T:C p.(Val568Ala) NC_000001.11:46274550:T:C Identity +NM_002439.5:c.157G>T NP_002430.3:p.Ala53Ser NC_000005.10:80654883:G:T p.(Ala53Ser) NC_000005.10:80654883:G:T p.(Ala53Ser) NC_000005.10:80654883:G:T Identity +NM_000179.3:c.1588G>A NP_000170.1:p.Asp530Asn NC_000002.12:47799570:G:A p.(Asp530Asn) NC_000002.12:47799570:G:A p.(Asp530Asn) NC_000002.12:47799570:G:A Identity +NM_003280.3:c.158C>A NP_003271.1:p.Thr53Asn NC_000003.12:52452149:G:T p.(Thr53Asn) NC_000003.12:52452149:G:T p.(Thr53Asn) NC_000003.12:52452149:G:T Identity +NM_001308176.2:c.1514A>C NP_001295105.1:p.Lys505Thr NC_000018.10:27988657:T:G p.(Lys505Thr) NC_000018.10:27988657:T:G p.(Lys505Thr) NC_000018.10:27988657:T:G Identity +NM_001321309.2:c.1079C>G NP_001308238.1:p.Ser360Cys NC_000003.12:123725987:G:C p.(Ser360Cys) NC_000003.12:123725987:G:C p.(Ser360Cys) NC_000003.12:123725987:G:C Identity +NM_001040108.2:c.1607G>C NP_001035197.1:p.Gly536Ala NC_000014.9:75048048:C:G p.(Gly536Ala) NC_000014.9:75048048:C:G p.(Gly536Ala) NC_000014.9:75048048:C:G Identity +NM_001035511.3:c.160C>T NP_001030588.1:p.Pro54Ser NC_000001.11:161328477:C:T p.(Pro54Ser) NC_000001.11:161328477:C:T p.(Pro54Ser) NC_000001.11:161328477:C:T Identity +NM_000465.4:c.1004_1005del NP_000456.2:p.Arg335fs NC_000002.12:214780868:TCTCT:TCT p.(Arg335MetfsTer2) NC_000002.12:214780868:TCTCT:TCT p.(Arg335MetfsTer2) NC_000002.12:214780868:TC: Analogous +NM_001211.6:c.1620G>T NP_001202.5:p.Lys540Asn NC_000015.10:40202456:G:T p.(Lys540Asn) NC_000015.10:40202456:G:T p.(Lys540Asn) NC_000015.10:40202456:G:T Identity +NM_021072.4:c.1628T>G NP_066550.2:p.Leu543Arg NC_000005.10:45267243:A:C p.(Leu543Arg) NC_000005.10:45267243:A:C p.(Leu543Arg) NC_000005.10:45267243:A:C Identity +NM_001128844.3:c.1637A>G NP_001122316.1:p.Lys546Arg NC_000019.10:10996255:A:G p.(Lys546Arg) NC_000019.10:10996255:A:G p.(Lys546Arg) NC_000019.10:10996255:A:G Identity +NM_001278616.2:c.991A>G NP_001265545.1:p.Met331Val NC_000002.12:110661747:T:C p.(Met331Val) NC_000002.12:110661747:T:C p.(Met331Val) NC_000002.12:110661747:T:C Identity +NM_000251.3:c.1651_1654del NP_000242.1:p.Phe551fs NC_000002.12:47466796:ATTTA:A p.(Phe551ProfsTer5) NC_000002.12:47466796:ATTTA:A p.(Phe551ProfsTer5) NC_000002.12:47466797:TTTA: Analogous +NM_001357321.2:c.1672G>C NP_001344250.1:p.Ala558Pro NC_000002.12:43875331:G:C p.(Ala558Pro) NC_000002.12:43875331:G:C p.(Ala558Pro) NC_000002.12:43875331:G:C Identity +NM_000268.4:c.1676A>G NP_000259.1:p.Asp559Gly NC_000022.11:29681539:A:G p.(Asp559Gly) NC_000022.11:29681539:A:G p.(Asp559Gly) NC_000022.11:29681539:A:G Identity +NM_001256850.1:c.10682T>A NP_001243779.1:p.Ile3561Asn NC_000002.12:178741599:A:T p.(Ile3561Asn) NC_000002.12:178741599:A:T p.(Ile3561Asn) NC_000002.12:178741599:A:T Identity +NM_001407296.1:c.1627A>G NP_001394225.1:p.Lys543Glu NC_000016.10:23630466:T:C p.(Lys543Glu) NC_000016.10:23630466:T:C p.(Lys543Glu) NC_000016.10:23630466:T:C Identity +NM_000321.3:c.1690C>G NP_000312.2:p.Leu564Val NC_000013.11:48381437:C:G p.(Leu564Val) NC_000013.11:48381437:C:G p.(Leu564Val) NC_000013.11:48381437:C:G Identity +LRG_989t1:c.1690C>T LRG_989p1:p.Gln564Ter NC_000022.11:20994631:C:T ERR:Data provider error: ValueError: Transcript LRG_989t1 not found ERR:Data provider error: ValueError: Transcript LRG_989t1 not found ERR:AlignmentMapper(tx_ac=LRG_989t1, alt_ac=LRG_989t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_989t1, alt_ac=LRG_989t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_989t1 not found +NM_000251.3:c.1707del NP_000242.1:p.Glu569fs NC_000002.12:47471008:AA:A p.(Glu569AspfsTer21) NC_000002.12:47471008:AA:A p.(Glu569AspfsTer21) NC_000002.12:47471009:A: Analogous +NM_000891.3:c.171G>T NP_000882.1:p.Gln57His NC_000017.11:70175209:G:T p.(Gln57His) NC_000017.11:70175209:G:T p.(Gln57His) NC_000017.11:70175209:G:T Identity +NM_001322003.2:c.1316dup NP_001308932.1:p.Asn440fs NC_000007.14:5987043:GGGG:GGGGG p.(Asn440LysfsTer6) NC_000007.14:5987043:GGGG:GGGGG p.(Asn440LysfsTer6) ERR:SPDI Analogous +NM_003777.3:c.170C>G NP_003768.2:p.Ala57Gly NC_000007.14:21543414:C:G ERR:Data provider error: ValueError: Transcript NM_003777.3 not found ERR:Data provider error: ValueError: Transcript NM_003777.3 not found ERR:AlignmentMapper(tx_ac=NM_003777.3, alt_ac=NM_003777.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_003777.3, alt_ac=NM_003777.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_003777.3 not found +LRG_488t1:c.1708G>C LRG_488p1:p.Glu570Gln NC_000002.12:29296996:C:G ERR:Data provider error: ValueError: Transcript LRG_488t1 not found ERR:Data provider error: ValueError: Transcript LRG_488t1 not found ERR:AlignmentMapper(tx_ac=LRG_488t1, alt_ac=LRG_488t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_488t1, alt_ac=LRG_488t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_488t1 not found +NM_000249.4:c.171G>T NP_000240.1:p.Lys57Asn NC_000003.12:36996672:G:T p.(Lys57Asn) NC_000003.12:36996672:G:T p.(Lys57Asn) NC_000003.12:36996672:G:T Identity +NM_199420.4:c.1721A>G NP_955452.3:p.Gln574Arg NC_000003.12:121510133:T:C p.(Gln574Arg) NC_000003.12:121510133:T:C p.(Gln574Arg) NC_000003.12:121510133:T:C Identity +NM_001352773.2:c.1725G>T NP_001339702.1:p.Met575Ile NC_000017.11:41758446:C:A p.(Met575Ile) NC_000017.11:41758446:C:A p.(Met575Ile) NC_000017.11:41758446:C:A Identity +NM_002354.3:c.172A>T NP_002345.2:p.Ile58Phe NC_000002.12:47373557:A:T p.(Ile58Phe) NC_000002.12:47373557:A:T p.(Ile58Phe) NC_000002.12:47373557:A:T Identity +NM_000222.3:c.1736A>T NP_000213.1:p.Asp579Val NC_000004.12:54727503:A:T p.(Asp579Val) NC_000004.12:54727503:A:T p.(Asp579Val) NC_000004.12:54727503:A:T Identity +NM_000038.6:c.1738A>T NP_000029.2:p.Lys580Ter NC_000005.10:112828966:A:T p.(Lys580Ter) NC_000005.10:112828966:A:T p.(Lys580Ter) NC_000005.10:112828966:A:T Identity +NM_199420.4:c.1729G>A NP_955452.3:p.Val577Ile NC_000003.12:121510125:C:T p.(Val577Ile) NC_000003.12:121510125:C:T p.(Val577Ile) NC_000003.12:121510125:C:T Identity +NM_001146702.2:c.1535A>G NP_001140174.1:p.His512Arg NC_000023.11:53210423:T:C p.(His512Arg) NC_000023.11:53210423:T:C p.(His512Arg) NC_000023.11:53210423:T:C Identity +NM_000136.3:c.172A>G NP_000127.2:p.Asn58Asp NC_000009.12:95247509:T:C p.(Asn58Asp) NC_000009.12:95247509:T:C p.(Asn58Asp) NC_000009.12:95247509:T:C Identity +NM_001098623.2:c.10589C>T NP_001092093.2:p.Thr3530Met NC_000001.11:228292146:C:T p.(Thr3530Met) NC_000001.11:228292146:C:T p.(Thr3530Met) NC_000001.11:228292146:C:T Identity +NM_001103.4:c.1739A>G NP_001094.1:p.Asn580Ser NC_000001.11:236751551:A:G p.(Asn580Ser) NC_000001.11:236751551:A:G p.(Asn580Ser) NC_000001.11:236751551:A:G Identity +NM_020433.5:c.1058G>A NP_065166.2:p.Arg353His NC_000020.11:44159728:C:T p.(Arg353His) NC_000020.11:44159728:C:T p.(Arg353His) NC_000020.11:44159728:C:T Identity +NM_001005373.4:c.1750G>A NP_001005373.1:p.Glu584Lys NC_000009.12:127496014:G:A p.(Glu584Lys) NC_000009.12:127496014:G:A p.(Glu584Lys) NC_000009.12:127496014:G:A Identity +NM_006767.4:c.1750G>C NP_006758.2:p.Glu584Gln NC_000022.11:20994691:G:C p.(Glu584Gln) NC_000022.11:20994691:G:C p.(Glu584Gln) NC_000022.11:20994691:G:C Identity +NM_024642.5:c.173C>T NP_078918.3:p.Pro58Leu NC_000009.12:98807870:C:T p.(Pro58Leu) NC_000009.12:98807870:C:T p.(Pro58Leu) NC_000009.12:98807870:C:T Identity +NM_004304.5:c.1742T>G NP_004295.2:p.Val581Gly NC_000002.12:29296962:A:C p.(Val581Gly) NC_000002.12:29296962:A:C p.(Val581Gly) NC_000002.12:29296962:A:C Identity +NM_000268.4:c.174A>C NP_000259.1:p.Glu58Asp NC_000022.11:29636809:A:C p.(Glu58Asp) NC_000022.11:29636809:A:C p.(Glu58Asp) NC_000022.11:29636809:A:C Identity +NM_001098623.2:c.17560A>G NP_001092093.2:p.Arg5854Gly NC_000001.11:228340750:A:G p.(Arg5854Gly) NC_000001.11:228340750:A:G p.(Arg5854Gly) NC_000001.11:228340750:A:G Identity +NM_020433.5:c.1756G>A NP_065166.2:p.Glu586Lys NC_000020.11:44115918:C:T p.(Glu586Lys) NC_000020.11:44115918:C:T p.(Glu586Lys) NC_000020.11:44115918:C:T Identity +NM_001410772.1:c.1708_1709insCAATT NP_001397701.1:p.Gly573Serfs NC_000003.12:52403261:ATTG:ATTGAATTG p.(Gly573SerfsTer28) NC_000003.12:52403264:G:AATTG p.(Gly573SerfsTer28) NC_000003.12:52403265:GG:AATTG Analogous +NM_001040108.2:c.1741A>G NP_001035197.1:p.Lys581Glu NC_000014.9:75047914:T:C p.(Lys581Glu) NC_000014.9:75047914:T:C p.(Lys581Glu) NC_000014.9:75047914:T:C Identity +NM_001354609.2:c.1744A>G NP_001341538.1:p.Ile582Val NC_000007.14:140753390:T:C p.(Ile582Val) NC_000007.14:140753390:T:C p.(Ile582Val) NC_000007.14:140753390:T:C Identity +NM_052947.4:c.1751C>G NP_443179.3:p.Ser584Cys NC_000018.10:58579024:G:C p.(Ser584Cys) NC_000018.10:58579024:G:C p.(Ser584Cys) NC_000018.10:58579024:G:C Identity +NM_000244.4:c.1774A>T NP_000235.3:p.Met592Leu NC_000011.10:64804407:T:A p.(Met592Leu) NC_000011.10:64804407:T:A p.(Met592Leu) NC_000011.10:64804407:T:A Identity +NM_006767.4:c.1763G>C NP_006758.2:p.Arg588Pro NC_000022.11:20994704:G:C p.(Arg588Pro) NC_000022.11:20994704:G:C p.(Arg588Pro) NC_000022.11:20994704:G:C Identity +NM_001211.6:c.1768G>T NP_001202.5:p.Asp590Tyr NC_000015.10:40206216:G:T p.(Asp590Tyr) NC_000015.10:40206216:G:T p.(Asp590Tyr) NC_000015.10:40206216:G:T Identity +NM_000535.7:c.1769T>G NP_000526.2:p.Ile590Ser NC_000007.14:5986995:A:C p.(Ile590Ser) NC_000007.14:5986995:A:C p.(Ile590Ser) NC_000007.14:5986995:A:C Identity +NM_005477.3:c.1770_1771delinsTT NP_005468.1:p.Ala591Ser NC_000015.10:73325161:CC:AA p.(Ala591Ser) NC_000015.10:73325161:CC:AA p.(Ala591Ser) NC_000015.10:73325161:CC:AA Identity +NM_006767.4:c.1770G>C NP_006758.2:p.Gln590His NC_000022.11:20994711:G:C p.(Gln590His) NC_000022.11:20994711:G:C p.(Gln590His) NC_000022.11:20994711:G:C Identity +NM_000251.3:c.1785_1787del NP_000242.1:p.Asn596del NC_000002.12:47475049:CAA: p.(Asn596del) NC_000002.12:47475049:CAA: p.(Asn596del) NC_000002.12:47475049:CAA: Identity +NM_006767.4:c.1787A>G NP_006758.2:p.Glu596Gly NC_000022.11:20994870:A:G p.(Glu596Gly) NC_000022.11:20994870:A:G p.(Glu596Gly) NC_000022.11:20994870:A:G Identity +NM_000251.3:c.1059G>T NP_000242.1:p.Lys353Asn NC_000002.12:47416411:G:T p.(Lys353Asn) NC_000002.12:47416411:G:T p.(Lys353Asn) NC_000002.12:47416411:G:T Identity +NM_001098623.2:c.17689A>G NP_001092093.2:p.Ile5897Val NC_000001.11:228340879:A:G p.(Ile5897Val) NC_000001.11:228340879:A:G p.(Ile5897Val) NC_000001.11:228340879:A:G Identity +NM_000038.6:c.176C>T NP_000029.2:p.Ala59Val NC_000005.10:112766365:C:T p.(Ala59Val) NC_000005.10:112766365:C:T p.(Ala59Val) NC_000005.10:112766365:C:T Identity +NM_000492.4:c.1759T>A NP_000483.3:p.Phe587Ile NC_000007.14:117590431:T:A p.(Phe587Ile) NC_000007.14:117590431:T:A p.(Phe587Ile) NC_000007.14:117590431:T:A Identity +NM_000251.3:c.1760G>C NP_000242.1:p.Gly587Ala NC_000002.12:47475024:G:C p.(Gly587Ala) NC_000002.12:47475024:G:C p.(Gly587Ala) NC_000002.12:47475024:G:C Identity +NM_001430.5:c.1765C>G NP_001421.2:p.Gln589Glu NC_000002.12:46380436:C:G p.(Gln589Glu) NC_000002.12:46380436:C:G p.(Gln589Glu) NC_000002.12:46380436:C:G Identity +NM_053046.4:c.176C>T NP_444274.1:p.Ala59Val NC_000019.10:40800747:C:T p.(Ala59Val) NC_000019.10:40800747:C:T p.(Ala59Val) NC_000019.10:40800747:C:T Identity +NM_002907.4:c.1778C>A NP_002898.2:p.Ser593Tyr NC_000012.12:21470987:G:T p.(Ser593Tyr) NC_000012.12:21470987:G:T p.(Ser593Tyr) NC_000012.12:21470987:G:T Identity +NM_000249.4:c.1789T>C NP_000240.1:p.Trp597Arg NC_000003.12:37047575:T:C p.(Trp597Arg) NC_000003.12:37047575:T:C p.(Trp597Arg) NC_000003.12:37047575:T:C Identity +NM_001098623.2:c.17900G>A NP_001092093.2:p.Arg5967His NC_000001.11:228341479:G:A p.(Arg5967His) NC_000001.11:228341479:G:A p.(Arg5967His) NC_000001.11:228341479:G:A Identity +NM_001098623.2:c.17908G>A NP_001092093.2:p.Glu5970Lys NC_000001.11:228341487:G:A p.(Glu5970Lys) NC_000001.11:228341487:G:A p.(Glu5970Lys) NC_000001.11:228341487:G:A Identity +NM_000051.4:c.1789C>T NP_000042.3:p.Pro597Ser NC_000011.10:108252017:C:T p.(Pro597Ser) NC_000011.10:108252017:C:T p.(Pro597Ser) NC_000011.10:108252017:C:T Identity +NM_007272.3:c.178G>A NP_009203.2:p.Gly60Ser NC_000001.11:15440537:G:A p.(Gly60Ser) NC_000001.11:15440537:G:A p.(Gly60Ser) NC_000001.11:15440537:G:A Identity +NM_001430.5:c.1795C>T NP_001421.2:p.Pro599Ser NC_000002.12:46380466:C:T p.(Pro599Ser) NC_000002.12:46380466:C:T p.(Pro599Ser) NC_000002.12:46380466:C:T Identity +NM_001256850.1:c.40040A>T NP_001243779.1:p.Asp13347Val NC_000002.12:178621958:T:A p.(Asp13347Val) NC_000002.12:178621958:T:A p.(Asp13347Val) NC_000002.12:178621958:T:A Identity +NM_000535.7:c.1777A>T NP_000526.2:p.Lys593Ter NC_000007.14:5986987:T:A p.(Lys593Ter) NC_000007.14:5986987:T:A p.(Lys593Ter) NC_000007.14:5986987:T:A Identity +NM_000492.4:c.1806G>T NP_000483.3:p.Leu602Phe NC_000007.14:117591972:G:T p.(Leu602Phe) NC_000007.14:117591972:G:T p.(Leu602Phe) NC_000007.14:117591972:G:T Identity +NM_006767.4:c.1813G>C NP_006758.2:p.Glu605Gln NC_000022.11:20994896:G:C p.(Glu605Gln) NC_000022.11:20994896:G:C p.(Glu605Gln) NC_000022.11:20994896:G:C Identity +NM_005911.6:c.17A>T NP_005902.1:p.Asn6Ile NC_000002.12:85539303:A:T p.(Asn6Ile) NC_000002.12:85539303:A:T p.(Asn6Ile) NC_000002.12:85539303:A:T Identity +NM_001098623.2:c.18064G>A NP_001092093.2:p.Asp6022Asn NC_000001.11:228342147:G:A p.(Asp6022Asn) NC_000001.11:228342147:G:A p.(Asp6022Asn) NC_000001.11:228342147:G:A Identity +NM_006218.4:c.1831G>A NP_006209.2:p.Val611Ile NC_000003.12:179219654:G:A p.(Val611Ile) NC_000003.12:179219654:G:A p.(Val611Ile) NC_000003.12:179219654:G:A Identity +NM_005477.3:c.1834C>T NP_005468.1:p.Arg612Cys NC_000015.10:73325098:G:A p.(Arg612Cys) NC_000015.10:73325098:G:A p.(Arg612Cys) NC_000015.10:73325098:G:A Identity +NM_000400.4:c.1837C>A NP_000391.1:p.His613Asn NC_000019.10:45352810:G:T p.(His613Asn) NC_000019.10:45352810:G:T p.(His613Asn) NC_000019.10:45352810:G:T Identity +NM_001256849.1:c.1837G>T NP_001243778.1:p.Ala613Ser NC_000019.10:50408845:G:T p.(Ala613Ser) NC_000019.10:50408845:G:T p.(Ala613Ser) NC_000019.10:50408845:G:T Identity +NM_004064.5:c.180G>A NP_004055.1:p.Trp60Ter NC_000012.12:12718018:G:A p.(Trp60Ter) NC_000012.12:12718018:G:A p.(Trp60Ter) NC_000012.12:12718018:G:A Identity +NM_199420.4:c.1811C>G NP_955452.3:p.Thr604Arg NC_000003.12:121510043:G:C p.(Thr604Arg) NC_000003.12:121510043:G:C p.(Thr604Arg) NC_000003.12:121510043:G:C Identity +NM_000257.4:c.1811C>T NP_000248.2:p.Thr604Ile NC_000014.9:23427661:G:A p.(Thr604Ile) NC_000014.9:23427661:G:A p.(Thr604Ile) NC_000014.9:23427661:G:A Identity +NM_001365276.2:c.181G>A NP_001352205.1:p.Glu61Lys NC_000006.12:32098017:C:T p.(Glu61Lys) NC_000006.12:32098017:C:T p.(Glu61Lys) NC_000006.12:32098017:C:T Identity +NM_001098623.2:c.18266C>T NP_001092093.2:p.Ala6089Val NC_000001.11:228350006:C:T p.(Ala6089Val) NC_000001.11:228350006:C:T p.(Ala6089Val) NC_000001.11:228350006:C:T Identity +NM_001346599.2:c.1592G>A NP_001333528.1:p.Arg531His NC_000007.14:105563886:G:A p.(Arg531His) NC_000007.14:105563886:G:A p.(Arg531His) NC_000007.14:105563886:G:A Identity +NM_198578.4:c.1852A>T NP_940980.4:p.Asn618Tyr NC_000012.12:40274903:A:T p.(Asn618Tyr) NC_000012.12:40274903:A:T p.(Asn618Tyr) NC_000012.12:40274903:A:T Identity +NM_001290307.3:c.1864A>T NP_001277236.1:p.Ile622Phe NC_000005.10:138925371:A:T p.(Ile622Phe) NC_000005.10:138925371:A:T p.(Ile622Phe) NC_000005.10:138925371:A:T Identity +NM_001126054.3:c.1759C>A NP_001119526.1:p.Pro587Thr NC_000023.11:41555613:G:T p.(Pro587Thr) NC_000023.11:41555613:G:T p.(Pro587Thr) NC_000023.11:41555613:G:T Identity +NM_000244.4:c.1843C>G NP_000235.3:p.Leu615Val NC_000011.10:64804338:G:C p.(Leu615Val) NC_000011.10:64804338:G:C p.(Leu615Val) NC_000011.10:64804338:G:C Identity +NM_001098623.2:c.18593G>C NP_001092093.2:p.Arg6198Pro NC_000001.11:228352993:G:C p.(Arg6198Pro) NC_000001.11:228352993:G:C p.(Arg6198Pro) NC_000001.11:228352993:G:C Identity +NM_001278616.2:c.1810G>A NP_001265545.1:p.Asp604Asn NC_000002.12:110655744:C:T p.(Asp604Asn) NC_000002.12:110655744:C:T p.(Asp604Asn) NC_000002.12:110655744:C:T Identity +NM_004655.4:c.1873G>T NP_004646.3:p.Glu625Ter NC_000017.11:65536902:C:A p.(Glu625Ter) NC_000017.11:65536902:C:A p.(Glu625Ter) NC_000017.11:65536902:C:A Identity +NM_032043.3:c.1862A>C NP_114432.2:p.Lys621Thr NC_000017.11:61780333:T:G p.(Lys621Thr) NC_000017.11:61780333:T:G p.(Lys621Thr) NC_000017.11:61780333:T:G Identity +NM_001024688.3:c.1623dup NP_001019859.1:p.Arg542fs NC_000008.11:89947868:TTT:TTTT p.(Arg542ThrfsTer2) NC_000008.11:89947868:TTT:TTTT p.(Arg542ThrfsTer2) ERR:SPDI Analogous +NM_000179.3:c.1907_1923dup NP_000170.1:p.Tyr642fs NC_000002.12:47799885:AGAACTCTCCTTGAGGAAGAA:AGAACTCTCCTTGAGGAAGAACTCTCCTTGAGGAAGAA p.(Tyr642LeufsTer12) NC_000002.12:47799885:AGAACTCTCCTTGAGGAAGAA:AGAACTCTCCTTGAGGAAGAACTCTCCTTGAGGAAGAA p.(Tyr642LeufsTer12) ERR:SPDI Analogous +NM_001289396.2:c.187A>T NP_001276325.1:p.Thr63Ser NC_000009.12:2029208:A:T p.(Thr63Ser) NC_000009.12:2029208:A:T p.(Thr63Ser) NC_000009.12:2029208:A:T Identity +NM_000249.4:c.1885del NP_000240.1:p.Glu629fs NC_000003.12:37047670:GG:G p.(Glu629LysfsTer8) NC_000003.12:37047670:GG:G p.(Glu629LysfsTer8) NC_000003.12:37047671:G: Analogous +NM_001256714.1:c.1066G>A NP_001243643.1:p.Glu356Lys NC_000019.10:55161114:C:T p.(Glu356Lys) NC_000019.10:55161114:C:T p.(Glu356Lys) NC_000019.10:55161114:C:T Identity +NM_001160160.2:c.1889C>A NP_001153632.1:p.Thr630Lys NC_000003.12:38603712:G:T p.(Thr630Lys) NC_000003.12:38603712:G:T p.(Thr630Lys) NC_000003.12:38603712:G:T Identity +NM_001142548.2:c.1891A>G NP_001136020.1:p.Ile631Val NC_000001.11:46277837:A:G p.(Ile631Val) NC_000001.11:46277837:A:G p.(Ile631Val) NC_000001.11:46277837:A:G Identity +NM_000038.6:c.1891A>G NP_000029.2:p.Ile631Val NC_000005.10:112835097:A:G p.(Ile631Val) NC_000005.10:112835097:A:G p.(Ile631Val) NC_000005.10:112835097:A:G Identity +NM_199420.4:c.1891A>T NP_955452.3:p.Ile631Phe NC_000003.12:121509628:T:A p.(Ile631Phe) NC_000003.12:121509628:T:A p.(Ile631Phe) NC_000003.12:121509628:T:A Identity +NM_000051.4:c.185G>A NP_000042.3:p.Arg62Lys NC_000011.10:108227887:G:A p.(Arg62Lys) NC_000011.10:108227887:G:A p.(Arg62Lys) NC_000011.10:108227887:G:A Identity +NM_001098623.2:c.1861G>A NP_001092093.2:p.Ala621Thr NC_000001.11:228215594:G:A p.(Ala621Thr) NC_000001.11:228215594:G:A p.(Ala621Thr) NC_000001.11:228215594:G:A Identity +NM_001300823.2:c.1769T>C NP_001287752.1:p.Met590Thr NC_000004.12:120695141:A:G p.(Met590Thr) NC_000004.12:120695141:A:G p.(Met590Thr) NC_000004.12:120695141:A:G Identity +NM_001346599.2:c.1672C>T NP_001333528.1:p.Gln558Ter NC_000007.14:105565295:C:T p.(Gln558Ter) NC_000007.14:105565295:C:T p.(Gln558Ter) NC_000007.14:105565295:C:T Identity +NM_000051.4:c.1914A>T NP_000042.3:p.Lys638Asn NC_000011.10:108253828:A:T p.(Lys638Asn) NC_000011.10:108253828:A:T p.(Lys638Asn) NC_000011.10:108253828:A:T Identity +NM_001177428.1:c.1778C>T NP_001170899.1:p.Ala593Val NC_000012.12:109788688:G:A p.(Ala593Val) NC_000012.12:109788688:G:A p.(Ala593Val) NC_000012.12:109788688:G:A Identity +NM_001184.4:c.191C>T NP_001175.2:p.Thr64Ile NC_000003.12:142566221:G:A p.(Thr64Ile) NC_000003.12:142566221:G:A p.(Thr64Ile) NC_000003.12:142566221:G:A Identity +NM_001007793.3:c.187G>A NP_001007794.1:p.Ala63Thr NC_000010.11:123155103:G:A p.(Ala63Thr) NC_000010.11:123155103:G:A p.(Ala63Thr) NC_000010.11:123155103:G:A Identity +NM_000492.4:c.1891dup NP_000483.3:p.Ser631fs NC_000007.14:117592054:TTTT:TTTTT p.(Ser631PhefsTer11) NC_000007.14:117592054:TTTT:TTTTT p.(Ser631PhefsTer11) ERR:SPDI Analogous +NM_006767.4:c.1897C>T NP_006758.2:p.Gln633Ter NC_000022.11:20994980:C:T p.(Gln633Ter) NC_000022.11:20994980:C:T p.(Gln633Ter) NC_000022.11:20994980:C:T Identity +NM_000551.4:c.191dup NP_000542.1:p.Ser65fs NC_000003.12:10142037:G:GG p.(Ser65LeufsTer67) NC_000003.12:10142037:G:GG p.(Ser65LeufsTer67) ERR:SPDI Analogous +NM_052843.4:c.19245G>C NP_443075.3:p.Met6415Ile NC_000001.11:228360136:G:C p.(Met6415Ile) NC_000001.11:228360136:G:C p.(Met6415Ile) NC_000001.11:228360136:G:C Identity +NM_000251.3:c.1928_1929del NP_000242.1:p.Glu643fs NC_000002.12:47475192:AA: p.(Glu643GlyfsTer4) NC_000002.12:47475192:AA: p.(Glu643GlyfsTer4) NC_000002.12:47475192:AA: Analogous +NM_000535.7:c.192T>A NP_000526.2:p.Asp64Glu NC_000007.14:6004029:A:T p.(Asp64Glu) NC_000007.14:6004029:A:T p.(Asp64Glu) NC_000007.14:6004029:A:T Identity +NM_198578.4:c.1901G>C NP_940980.4:p.Ser634Thr NC_000012.12:40274952:G:C p.(Ser634Thr) NC_000012.12:40274952:G:C p.(Ser634Thr) NC_000012.12:40274952:G:C Identity +NM_000465.4:c.1906G>T NP_000456.2:p.Val636Leu NC_000002.12:214730505:C:A p.(Val636Leu) NC_000002.12:214730505:C:A p.(Val636Leu) NC_000002.12:214730505:C:A Identity +NM_001377260.1:c.190G>C NP_001364189.1:p.Ala64Pro NC_000001.11:231421698:C:G p.(Ala64Pro) NC_000001.11:231421698:C:G p.(Ala64Pro) NC_000001.11:231421698:C:G Identity +NM_001184.4:c.106A>G NP_001175.2:p.Ile36Val NC_000003.12:142568107:T:C p.(Ile36Val) NC_000003.12:142568107:T:C p.(Ile36Val) NC_000003.12:142568107:T:C Identity +NM_052843.4:c.19360C>T NP_443075.3:p.Pro6454Ser NC_000001.11:228360251:C:T p.(Pro6454Ser) NC_000001.11:228360251:C:T p.(Pro6454Ser) NC_000001.11:228360251:C:T Identity +NM_001166108.2:c.1969T>C NP_001159580.1:p.Phe657Leu NC_000004.12:168890925:T:C p.(Phe657Leu) NC_000004.12:168890925:T:C p.(Phe657Leu) NC_000004.12:168890925:T:C Identity +NM_006361.6:c.196T>G NP_006352.2:p.Cys66Gly NC_000017.11:48728397:A:C p.(Cys66Gly) NC_000017.11:48728397:A:C p.(Cys66Gly) NC_000017.11:48728397:A:C Identity +NM_001005476.4:c.1936G>A NP_001005476.1:p.Asp646Asn NC_000002.12:158658156:G:A p.(Asp646Asn) NC_000002.12:158658156:G:A p.(Asp646Asn) NC_000002.12:158658156:G:A Identity +NM_001999.4:c.1996G>A NP_001990.2:p.Gly666Arg NC_000005.10:128374726:C:T p.(Gly666Arg) NC_000005.10:128374726:C:T p.(Gly666Arg) NC_000005.10:128374726:C:T Identity +NM_000251.3:c.1997T>C NP_000242.1:p.Ile666Thr NC_000002.12:47475261:T:C p.(Ile666Thr) NC_000002.12:47475261:T:C p.(Ile666Thr) NC_000002.12:47475261:T:C Identity +NM_001024688.3:c.1699A>T NP_001019859.1:p.Met567Leu NC_000008.11:89946264:T:A p.(Met567Leu) NC_000008.11:89946264:T:A p.(Met567Leu) NC_000008.11:89946264:T:A Identity +NM_006593.4:c.1952C>T NP_006584.1:p.Ser651Leu NC_000002.12:161424129:C:T p.(Ser651Leu) NC_000002.12:161424129:C:T p.(Ser651Leu) NC_000002.12:161424129:C:T Identity +NM_001357321.2:c.1951G>A NP_001344250.1:p.Gly651Ser NC_000002.12:43877844:G:A p.(Gly651Ser) NC_000002.12:43877844:G:A p.(Gly651Ser) NC_000002.12:43877844:G:A Identity +NM_001406482.1:c.198C>G NP_001393411.1:p.Ile66Met NC_000015.10:34793500:G:C p.(Ile66Met) NC_000015.10:34793500:G:C p.(Ile66Met) NC_000015.10:34793500:G:C Identity +NM_000038.6:c.1997T>G NP_000029.2:p.Leu666Ter NC_000005.10:112837590:T:G p.(Leu666Ter) NC_000005.10:112837590:T:G p.(Leu666Ter) NC_000005.10:112837590:T:G Identity +NM_001379200.1:c.226C>G NP_001366129.1:p.Pro76Ala NC_000022.11:19761068:C:G p.(Pro76Ala) NC_000022.11:19761068:C:G p.(Pro76Ala) NC_000022.11:19761068:C:G Identity +NM_001297709.2:c.19A>G NP_001284638.1:p.Lys7Glu NC_000012.12:8662085:T:C p.(Lys7Glu) NC_000012.12:8662085:T:C p.(Lys7Glu) NC_000012.12:8662085:T:C Identity +NM_016219.5:c.19A>G NP_057303.2:p.Arg7Gly NC_000009.12:137087017:A:G p.(Arg7Gly) NC_000009.12:137087017:A:G p.(Arg7Gly) NC_000009.12:137087017:A:G Identity +NM_000059.4:c.1937G>A NP_000050.3:p.Ser646Asn NC_000013.11:32336291:G:A p.(Ser646Asn) NC_000013.11:32336291:G:A p.(Ser646Asn) NC_000013.11:32336291:G:A Identity +NM_018975.4:c.1070A>T NP_061848.2:p.Asp357Val NC_000016.10:75656480:A:T p.(Asp357Val) NC_000016.10:75656480:A:T p.(Asp357Val) NC_000016.10:75656480:A:T Identity +NM_001377273.1:c.1955T>G NP_001364202.1:p.Leu652Arg NC_000012.12:21882829:A:C p.(Leu652Arg) NC_000012.12:21882829:A:C p.(Leu652Arg) NC_000012.12:21882829:A:C Identity +NM_000136.3:c.199A>G NP_000127.2:p.Ile67Val NC_000009.12:95247482:T:C p.(Ile67Val) NC_000009.12:95247482:T:C p.(Ile67Val) NC_000009.12:95247482:T:C Identity +LRG_218t1:c.1073dup LRG_218p1:p.Arg359Glufs NC_000002.12:47416425:A:AA ERR:Data provider error: ValueError: Transcript LRG_218t1 not found ERR:Data provider error: ValueError: Transcript LRG_218t1 not found ERR:AlignmentMapper(tx_ac=LRG_218t1, alt_ac=LRG_218t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_218t1, alt_ac=LRG_218t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_218t1 not found +NM_199420.4:c.2003G>A NP_955452.3:p.Arg668Gln NC_000003.12:121498626:C:T p.(Arg668Gln) NC_000003.12:121498626:C:T p.(Arg668Gln) NC_000003.12:121498626:C:T Identity +NM_001365951.3:c.2142G>T NP_001352880.1:p.Leu714Phe NC_000001.11:10320068:G:T p.(Leu714Phe) NC_000001.11:10320068:G:T p.(Leu714Phe) NC_000001.11:10320068:G:T Identity +NM_004064.5:c.201_202del NP_004055.1:p.His67fs NC_000012.12:12718037:CACA:CA p.(His67GlnfsTer57) NC_000012.12:12718037:CACA:CA p.(His67GlnfsTer57) NC_000012.12:12718039:CA: Analogous +NM_006767.4:c.2012T>C NP_006758.2:p.Leu671Pro NC_000022.11:20995814:T:C p.(Leu671Pro) NC_000022.11:20995814:T:C p.(Leu671Pro) NC_000022.11:20995814:T:C Identity +NM_001127493.3:c.4460G>A NP_001120965.1:p.Gly1487Asp NC_000004.12:113360882:G:A p.(Gly1487Asp) NC_000004.12:113360882:G:A p.(Gly1487Asp) NC_000004.12:113360882:G:A Identity +NM_001365951.3:c.2159C>G NP_001352880.1:p.Thr720Ser NC_000001.11:10320085:C:G p.(Thr720Ser) NC_000001.11:10320085:C:G p.(Thr720Ser) NC_000001.11:10320085:C:G Identity +NM_001943.5:c.1964A>T NP_001934.2:p.His655Leu NC_000018.10:31541276:A:T p.(His655Leu) NC_000018.10:31541276:A:T p.(His655Leu) NC_000018.10:31541276:A:T Identity +NM_001035.3:c.10067T>A NP_001026.2:p.Leu3356Gln NC_000001.11:237709022:T:A p.(Leu3356Gln) NC_000001.11:237709022:T:A p.(Leu3356Gln) NC_000001.11:237709022:T:A Identity +NM_052843.4:c.19708T>G NP_443075.3:p.Ser6570Ala NC_000001.11:228360599:T:G p.(Ser6570Ala) NC_000001.11:228360599:T:G p.(Ser6570Ala) NC_000001.11:228360599:T:G Identity +NM_001346599.2:c.1740T>G NP_001333528.1:p.His580Gln NC_000007.14:105565363:T:G p.(His580Gln) NC_000007.14:105565363:T:G p.(His580Gln) NC_000007.14:105565363:T:G Identity +NM_000251.3:c.2023A>T NP_000242.1:p.Lys675Ter NC_000002.12:47476383:A:T p.(Lys675Ter) NC_000002.12:47476383:A:T p.(Lys675Ter) NC_000002.12:47476383:A:T Identity +NM_001293306.2:c.2029G>C NP_001280235.2:p.Val677Leu NC_000003.12:38742367:C:G p.(Val677Leu) NC_000003.12:38742367:C:G p.(Val677Leu) NC_000003.12:38742367:C:G Identity +NM_001430.5:c.2037C>G NP_001421.2:p.Phe679Leu NC_000002.12:46380708:C:G p.(Phe679Leu) NC_000002.12:46380708:C:G p.(Phe679Leu) NC_000002.12:46380708:C:G Identity +NM_002907.4:c.203G>A NP_002898.2:p.Trp68Ter NC_000012.12:21491529:C:T p.(Trp68Ter) NC_000012.12:21491529:C:T p.(Trp68Ter) NC_000012.12:21491529:C:T Identity +NM_001386339.1:c.1982C>G NP_001373268.1:p.Pro661Arg NC_000011.10:9858343:G:C p.(Pro661Arg) NC_000011.10:9858343:G:C p.(Pro661Arg) NC_000011.10:9858343:G:C Identity +NM_002180.3:c.2045G>T NP_002171.2:p.Gly682Val NC_000011.10:68936524:G:T p.(Gly682Val) NC_000011.10:68936524:G:T p.(Gly682Val) NC_000011.10:68936524:G:T Identity +NM_001278616.2:c.1016C>T NP_001265545.1:p.Pro339Leu NC_000002.12:110661722:G:A p.(Pro339Leu) NC_000002.12:110661722:G:A p.(Pro339Leu) NC_000002.12:110661722:G:A Identity +NM_001040108.2:c.2052G>C NP_001035197.1:p.Glu684Asp NC_000014.9:75047603:C:G p.(Glu684Asp) NC_000014.9:75047603:C:G p.(Glu684Asp) NC_000014.9:75047603:C:G Identity +NM_033118.4:c.206C>A NP_149109.1:p.Pro69His NC_000020.11:31820278:C:A p.(Pro69His) NC_000020.11:31820278:C:A p.(Pro69His) NC_000020.11:31820278:C:A Identity +NM_002432.3:c.1078A>C NP_002423.1:p.Lys360Gln NC_000001.11:158847817:A:C p.(Lys360Gln) NC_000001.11:158847817:A:C p.(Lys360Gln) NC_000001.11:158847817:A:C Identity +NM_001407274.1:c.19A>G NP_001394203.1:p.Ser7Gly NC_000003.12:14129417:A:G p.(Ser7Gly) NC_000003.12:14129417:A:G p.(Ser7Gly) NC_000003.12:14129417:A:G Identity +NM_001407296.1:c.1A>C NP_001394225.1:p.Met1Leu NC_000016.10:23641156:T:G p.(Met1Leu) NC_000016.10:23641156:T:G p.Met1? NC_000016.10:23641156:T:G Identity +NM_001142548.2:c.2004T>A NP_001136020.1:p.Asp668Glu NC_000001.11:46277950:T:A p.(Asp668Glu) NC_000001.11:46277950:T:A p.(Asp668Glu) NC_000001.11:46277950:T:A Identity +NM_001363813.1:c.1813C>T NP_001350742.1:p.Pro605Ser NC_000017.11:65536452:G:A p.(Pro605Ser) NC_000017.11:65536452:G:A p.(Pro605Ser) NC_000017.11:65536452:G:A Identity +NM_001184.4:c.200T>G NP_001175.2:p.Met67Arg NC_000003.12:142566212:A:C p.(Met67Arg) NC_000003.12:142566212:A:C p.(Met67Arg) NC_000003.12:142566212:A:C Identity +NM_001540.5:c.2_3inv NP_001531.1:p.Met1Thr NC_000007.14:76302713:TG:CA p.(Met1Thr) NC_000007.14:76302713:TG:CA p.Met1? ERR:SPDI Identity +NM_001407571.1:c.860T>C NP_001394500.1:p.Leu287Pro NC_000017.11:43094457:A:G p.(Leu287Pro) NC_000017.11:43094457:A:G p.(Leu287Pro) NC_000017.11:43094457:A:G Identity +NM_001193376.3:c.2002G>C NP_001180305.1:p.Glu668Gln NC_000005.10:1279418:C:G p.(Glu668Gln) NC_000005.10:1279418:C:G p.(Glu668Gln) NC_000005.10:1279418:C:G Identity +NM_000535.7:c.2080G>T NP_000526.2:p.Asp694Tyr NC_000007.14:5982917:C:A p.(Asp694Tyr) NC_000007.14:5982917:C:A p.(Asp694Tyr) NC_000007.14:5982917:C:A Identity +NM_001430.5:c.2084T>G NP_001421.2:p.Leu695Arg NC_000002.12:46381633:T:G p.(Leu695Arg) NC_000002.12:46381633:T:G p.(Leu695Arg) NC_000002.12:46381633:T:G Identity +NM_001308176.2:c.115C>G NP_001295105.1:p.Gln39Glu NC_000018.10:28013873:G:C p.(Gln39Glu) NC_000018.10:28013873:G:C p.(Gln39Glu) NC_000018.10:28013873:G:C Identity +NM_006767.4:c.2068A>T NP_006758.2:p.Ser690Cys NC_000022.11:20995870:A:T p.(Ser690Cys) NC_000022.11:20995870:A:T p.(Ser690Cys) NC_000022.11:20995870:A:T Identity +NM_001035511.3:c.206T>C NP_001030588.1:p.Ile69Thr NC_000001.11:161340619:T:C p.(Ile69Thr) NC_000001.11:161340619:T:C p.(Ile69Thr) NC_000001.11:161340619:T:C Identity +NM_021076.4:c.2081C>A NP_066554.2:p.Ala694Asp NC_000022.11:29489720:C:A p.(Ala694Asp) NC_000022.11:29489720:C:A p.(Ala694Asp) NC_000022.11:29489720:C:A Identity +NM_005732.4:c.2023G>A NP_005723.2:p.Asp675Asn NC_000005.10:132595625:G:A p.(Asp675Asn) NC_000005.10:132595625:G:A p.(Asp675Asn) NC_000005.10:132595625:G:A Identity +NM_198578.4:c.2084G>C NP_940980.4:p.Cys695Ser NC_000012.12:40278103:G:C p.(Cys695Ser) NC_000012.12:40278103:G:C p.(Cys695Ser) NC_000012.12:40278103:G:C Identity +NM_000244.4:c.209A>C NP_000235.3:p.Asp70Ala NC_000011.10:64809900:T:G p.(Asp70Ala) NC_000011.10:64809900:T:G p.(Asp70Ala) NC_000011.10:64809900:T:G Identity +NM_006767.4:c.2050A>G NP_006758.2:p.Ile684Val NC_000022.11:20995852:A:G p.(Ile684Val) NC_000022.11:20995852:A:G p.(Ile684Val) NC_000022.11:20995852:A:G Identity +NM_006767.4:c.2051T>G NP_006758.2:p.Ile684Ser NC_000022.11:20995853:T:G p.(Ile684Ser) NC_000022.11:20995853:T:G p.(Ile684Ser) NC_000022.11:20995853:T:G Identity +NM_000109.4:c.2036C>G NP_000100.3:p.Thr679Arg NC_000023.11:32545266:G:C p.(Thr679Arg) NC_000023.11:32545266:G:C p.(Thr679Arg) NC_000023.11:32545266:G:C Identity +NM_006767.4:c.2100G>T NP_006758.2:p.Met700Ile NC_000022.11:20995992:G:T p.(Met700Ile) NC_000022.11:20995992:G:T p.(Met700Ile) NC_000022.11:20995992:G:T Identity +NM_001321307.1:c.2101C>G NP_001308236.1:p.Leu701Val NC_000011.10:108172882:G:C p.(Leu701Val) NC_000011.10:108172882:G:C p.(Leu701Val) NC_000011.10:108172882:G:C Identity +NM_000249.4:c.107T>A NP_000240.1:p.Ile36Asn NC_000003.12:36993653:T:A p.(Ile36Asn) NC_000003.12:36993653:T:A p.(Ile36Asn) NC_000003.12:36993653:T:A Identity +NM_000251.3:c.211G>T NP_000242.1:p.Gly71Ter NC_000002.12:47403401:G:T p.(Gly71Ter) NC_000002.12:47403401:G:T p.(Gly71Ter) NC_000002.12:47403401:G:T Identity +NM_001321307.1:c.2128G>A NP_001308236.1:p.Val710Met NC_000011.10:108172855:C:T p.(Val710Met) NC_000011.10:108172855:C:T p.(Val710Met) NC_000011.10:108172855:C:T Identity +NM_002878.3:c.210_211TC[1] NP_002869.3:p.Tyr72Argfs NC_000017.11:35118549:AGAGA:AGA ERR:Data provider error: ValueError: Transcript NM_002878.3 not found ERR:Data provider error: ValueError: Transcript NM_002878.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_002878.3 not found +NM_000179.3:c.2131_2135del NP_000170.1:p.Pro711fs NC_000002.12:47800111:TTCCCTT:TT p.(Pro711GlyfsTer3) NC_000002.12:47800111:TTCCCTT:TT p.(Pro711GlyfsTer3) NC_000002.12:47800113:CCCTT: Analogous +NM_000249.3:c.2039_2040GC[1] NP_000240.1:p.Ala681Tyrfs NC_000003.12:37048952:GCGC:GC ERR:Data provider error: ValueError: Transcript NM_000249.3 not found ERR:Data provider error: ValueError: Transcript NM_000249.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000249.3 not found +NM_199420.4:c.2102A>C NP_955452.3:p.Lys701Thr NC_000003.12:121498527:T:G p.(Lys701Thr) NC_000003.12:121498527:T:G p.(Lys701Thr) NC_000003.12:121498527:T:G Identity +NM_001321307.1:c.206T>C NP_001308236.1:p.Met69Thr NC_000011.10:108193967:A:G p.(Met69Thr) NC_000011.10:108193967:A:G p.(Met69Thr) NC_000011.10:108193967:A:G Identity +NM_017890.5:c.10795A>C NP_060360.3:p.Ile3599Leu NC_000008.11:99854108:A:C p.(Ile3599Leu) NC_000008.11:99854108:A:C p.(Ile3599Leu) NC_000008.11:99854108:A:C Identity +NM_001406506.1:c.1634G>A NP_001393435.1:p.Gly545Glu NC_000018.10:31071666:C:T p.(Gly545Glu) NC_000018.10:31071666:C:T p.(Gly545Glu) NC_000018.10:31071666:C:T Identity +NM_000038.6:c.2074C>G NP_000029.2:p.Pro692Ala NC_000005.10:112837667:C:G p.(Pro692Ala) NC_000005.10:112837667:C:G p.(Pro692Ala) NC_000005.10:112837667:C:G Identity +NM_001005476.4:c.2143G>A NP_001005476.1:p.Glu715Lys NC_000002.12:158661381:G:A p.(Glu715Lys) NC_000002.12:158661381:G:A p.(Glu715Lys) NC_000002.12:158661381:G:A Identity +NM_017617.5:c.2150T>C NP_060087.3:p.Val717Ala NC_000009.12:136514566:A:G p.(Val717Ala) NC_000009.12:136514566:A:G p.(Val717Ala) NC_000009.12:136514566:A:G Identity +NM_001407296.1:c.2104G>C NP_001394225.1:p.Asp702His NC_000016.10:23629989:C:G p.(Asp702His) NC_000016.10:23629989:C:G p.(Asp702His) NC_000016.10:23629989:C:G Identity +NM_000535.7:c.2165G>T NP_000526.2:p.Arg722Met NC_000007.14:5982832:C:A p.(Arg722Met) NC_000007.14:5982832:C:A p.(Arg722Met) NC_000007.14:5982832:C:A Identity +NM_003036.4:c.2098_2099delinsGT NP_003027.1:p.Lys700Val NC_000001.11:2306675:AA:GT p.(Lys700Val) NC_000001.11:2306675:AA:GT p.(Lys700Val) NC_000001.11:2306675:AA:GT Identity +NM_000264.5:c.2078C>T NP_000255.2:p.Thr693Ile NC_000009.12:95468922:G:A p.(Thr693Ile) NC_000009.12:95468922:G:A p.(Thr693Ile) NC_000009.12:95468922:G:A Identity +NM_001193376.3:c.2086C>A NP_001180305.1:p.Arg696Ser NC_000005.10:1279334:G:T p.(Arg696Ser) NC_000005.10:1279334:G:T p.(Arg696Ser) NC_000005.10:1279334:G:T Identity +NM_032043.3:c.2086C>T NP_114432.2:p.Pro696Ser NC_000017.11:61776411:G:A p.(Pro696Ser) NC_000017.11:61776411:G:A p.(Pro696Ser) NC_000017.11:61776411:G:A Identity +NM_001184.4:c.2149A>G NP_001175.2:p.Thr717Ala NC_000003.12:142556068:T:C p.(Thr717Ala) NC_000003.12:142556068:T:C p.(Thr717Ala) NC_000003.12:142556068:T:C Identity +NM_022436.3:c.214G>A NP_071881.1:p.Val72Ile NC_000002.12:43837884:C:T p.(Val72Ile) NC_000002.12:43837884:C:T p.(Val72Ile) NC_000002.12:43837884:C:T Identity +NM_000245.4:c.2189A>T NP_000236.2:p.Asn730Ile NC_000007.14:116758544:A:T p.(Asn730Ile) NC_000007.14:116758544:A:T p.(Asn730Ile) NC_000007.14:116758544:A:T Identity +NM_001211.6:c.2192T>G NP_001202.5:p.Leu731Arg NC_000015.10:40209682:T:G p.(Leu731Arg) NC_000015.10:40209682:T:G p.(Leu731Arg) NC_000015.10:40209682:T:G Identity +NM_001098512.3:c.1040C>T NP_001091982.1:p.Ala347Val NC_000010.11:52251577:C:T p.(Ala347Val) NC_000010.11:52251577:C:T p.(Ala347Val) NC_000010.11:52251577:C:T Identity +NM_001184.4:c.2101G>A NP_001175.2:p.Asp701Asn NC_000003.12:142556116:C:T p.(Asp701Asn) NC_000003.12:142556116:C:T p.(Asp701Asn) NC_000003.12:142556116:C:T Identity +NM_000535.7:c.2166G>C NP_000526.2:p.Arg722Ser NC_000007.14:5982831:C:G p.(Arg722Ser) NC_000007.14:5982831:C:G p.(Arg722Ser) NC_000007.14:5982831:C:G Identity +NM_000251.3:c.2169_2188dup NP_000242.1:p.Leu730fs NC_000002.12:47476529:CACGTTCATGGCTGAAATGT:CACGTTCATGGCTGAAATGTCACGTTCATGGCTGAAATGT p.(Leu730SerfsTer22) NC_000002.12:47476529:CACGTTCATGGCTGAAATGT:CACGTTCATGGCTGAAATGTCACGTTCATGGCTGAAATGT p.(Leu730SerfsTer22) ERR:SPDI Analogous +NM_001040108.2:c.2174A>T NP_001035197.1:p.Asn725Ile NC_000014.9:75047481:T:A p.(Asn725Ile) NC_000014.9:75047481:T:A p.(Asn725Ile) NC_000014.9:75047481:T:A Identity +NM_001098623.2:c.211G>T NP_001092093.2:p.Asp71Tyr NC_000001.11:228211993:G:T p.(Asp71Tyr) NC_000001.11:228211993:G:T p.(Asp71Tyr) NC_000001.11:228211993:G:T Identity +NM_017802.4:c.2207C>T NP_060272.3:p.Thr736Met NC_000007.14:775129:C:T p.(Thr736Met) NC_000007.14:775129:C:T p.(Thr736Met) NC_000007.14:775129:C:T Identity +NM_052947.4:c.2216A>G NP_443179.3:p.Tyr739Cys NC_000018.10:58537970:T:C p.(Tyr739Cys) NC_000018.10:58537970:T:C p.(Tyr739Cys) NC_000018.10:58537970:T:C Identity +NM_004304.5:c.2192C>G NP_004295.2:p.Thr731Ser NC_000002.12:29251116:G:C p.(Thr731Ser) NC_000002.12:29251116:G:C p.(Thr731Ser) NC_000002.12:29251116:G:C Identity +NM_001143838.3:c.21T>A NP_001137310.1:p.Tyr7Ter NC_000017.11:6713312:A:T p.(Tyr7Ter) NC_000017.11:6713312:A:T p.(Tyr7Ter) NC_000017.11:6713312:A:T Identity +NM_052947.4:c.2129T>C NP_443179.3:p.Val710Ala NC_000018.10:58538057:A:G p.(Val710Ala) NC_000018.10:58538057:A:G p.(Val710Ala) NC_000018.10:58538057:A:G Identity +NM_001082486.2:c.822T>G NP_001075955.2:p.Ser274Arg NC_000016.10:67658561:A:C p.(Ser274Arg) NC_000016.10:67658561:A:C p.(Ser274Arg) NC_000016.10:67658561:A:C Identity +NM_000548.5:c.213G>C NP_000539.2:p.Lys71Asn NC_000016.10:2050473:G:C p.(Lys71Asn) NC_000016.10:2050473:G:C p.(Lys71Asn) NC_000016.10:2050473:G:C Identity +NM_000089.4:c.2140C>A NP_000080.2:p.Arg714Ser NC_000007.14:94420396:C:A p.(Arg714Ser) NC_000007.14:94420396:C:A p.(Arg714Ser) NC_000007.14:94420396:C:A Identity +NM_006218.4:c.2131A>G NP_006209.2:p.Lys711Glu NC_000003.12:179221100:A:G p.(Lys711Glu) NC_000003.12:179221100:A:G p.(Lys711Glu) NC_000003.12:179221100:A:G Identity +NM_001365951.3:c.2273A>G NP_001352880.1:p.Gln758Arg NC_000001.11:10321771:A:G p.(Gln758Arg) NC_000001.11:10321771:A:G p.(Gln758Arg) NC_000001.11:10321771:A:G Identity +NM_001256267.2:c.2143T>C NP_001243196.1:p.Ser715Pro NC_000010.11:68174234:T:C p.(Ser715Pro) NC_000010.11:68174234:T:C p.(Ser715Pro) NC_000010.11:68174234:T:C Identity +NM_001367624.2:c.10160C>A NP_001354553.1:p.Ala3387Glu NC_000016.10:88437629:C:A p.(Ala3387Glu) NC_000016.10:88437629:C:A p.(Ala3387Glu) NC_000016.10:88437629:C:A Identity +NM_001363813.1:c.2041G>T NP_001350742.1:p.Asp681Tyr NC_000017.11:65535626:C:A p.(Asp681Tyr) NC_000017.11:65535626:C:A p.(Asp681Tyr) NC_000017.11:65535626:C:A Identity +NM_001195227.2:c.2153C>G NP_001182156.1:p.Thr718Arg NC_000019.10:49190715:C:G p.(Thr718Arg) NC_000019.10:49190715:C:G p.(Thr718Arg) NC_000019.10:49190715:C:G Identity +NM_002876.4:c.215A>C NP_002867.1:p.Lys72Thr NC_000017.11:58694999:A:C p.(Lys72Thr) NC_000017.11:58694999:A:C p.(Lys72Thr) NC_000017.11:58694999:A:C Identity +NM_000465.4:c.1086T>A NP_000456.2:p.Cys362Ter NC_000002.12:214780787:A:T p.(Cys362Ter) NC_000002.12:214780787:A:T p.(Cys362Ter) NC_000002.12:214780787:A:T Identity +NM_001184.4:c.2216A>T NP_001175.2:p.Asp739Val NC_000003.12:142556001:T:A p.(Asp739Val) NC_000003.12:142556001:T:A p.(Asp739Val) NC_000003.12:142556001:T:A Identity +NM_001211.6:c.2218T>G NP_001202.5:p.Ser740Ala NC_000015.10:40209708:T:G p.(Ser740Ala) NC_000015.10:40209708:T:G p.(Ser740Ala) NC_000015.10:40209708:T:G Identity +NM_001195573.1:c.2163A>T NP_001182502.1:p.Lys721Asn NC_000014.9:95111409:T:A p.(Lys721Asn) NC_000014.9:95111409:T:A p.(Lys721Asn) NC_000014.9:95111409:T:A Identity +NM_001128844.3:c.2248G>A NP_001122316.1:p.Val750Ile NC_000019.10:11010504:G:A p.(Val750Ile) NC_000019.10:11010504:G:A p.(Val750Ile) NC_000019.10:11010504:G:A Identity +NM_000251.3:c.2285T>G NP_000242.1:p.Leu762Ter NC_000002.12:47478345:T:G p.(Leu762Ter) NC_000002.12:47478345:T:G p.(Leu762Ter) NC_000002.12:47478345:T:G Identity +NM_000321.3:c.2287A>T NP_000312.2:p.Arg763Ter NC_000013.11:48465072:A:T p.(Arg763Ter) NC_000013.11:48465072:A:T p.(Arg763Ter) NC_000013.11:48465072:A:T Identity +NM_004304.5:c.2168T>A NP_004295.2:p.Ile723Asn NC_000002.12:29251140:A:T p.(Ile723Asn) NC_000002.12:29251140:A:T p.(Ile723Asn) NC_000002.12:29251140:A:T Identity +NM_006767.4:c.217G>A NP_006758.2:p.Val73Met NC_000022.11:20983042:G:A p.(Val73Met) NC_000022.11:20983042:G:A p.(Val73Met) NC_000022.11:20983042:G:A Identity +NM_002432.3:c.229A>G NP_002423.1:p.Asn77Asp NC_000001.11:158842381:A:G p.(Asn77Asp) NC_000001.11:158842381:A:G p.(Asn77Asp) NC_000001.11:158842381:A:G Identity +NM_001346599.2:c.856T>C NP_001333528.1:p.Ser286Pro NC_000007.14:105550147:T:C p.(Ser286Pro) NC_000007.14:105550147:T:C p.(Ser286Pro) NC_000007.14:105550147:T:C Identity +NM_001321307.1:c.2240A>G NP_001308236.1:p.Asp747Gly NC_000011.10:108172743:T:C p.(Asp747Gly) NC_000011.10:108172743:T:C p.(Asp747Gly) NC_000011.10:108172743:T:C Identity +NM_000059.4:c.2243A>G NP_000050.3:p.Tyr748Cys NC_000013.11:32336597:A:G p.(Tyr748Cys) NC_000013.11:32336597:A:G p.(Tyr748Cys) NC_000013.11:32336597:A:G Identity +NM_000057.4:c.2189T>C NP_000048.1:p.Leu730Ser NC_000015.10:90765409:T:C p.(Leu730Ser) NC_000015.10:90765409:T:C p.(Leu730Ser) NC_000015.10:90765409:T:C Identity +NM_021076.4:c.2197C>T NP_066554.2:p.Pro733Ser NC_000022.11:29489836:C:T p.(Pro733Ser) NC_000022.11:29489836:C:T p.(Pro733Ser) NC_000022.11:29489836:C:T Identity +NM_001321307.1:c.2197G>T NP_001308236.1:p.Asp733Tyr NC_000011.10:108172786:C:A p.(Asp733Tyr) NC_000011.10:108172786:C:A p.(Asp733Tyr) NC_000011.10:108172786:C:A Identity +NM_001211.6:c.2198C>T NP_001202.5:p.Ser733Phe NC_000015.10:40209688:C:T p.(Ser733Phe) NC_000015.10:40209688:C:T p.(Ser733Phe) NC_000015.10:40209688:C:T Identity +NM_000059.4:c.2201T>C NP_000050.3:p.Leu734Ser NC_000013.11:32336555:T:C p.(Leu734Ser) NC_000013.11:32336555:T:C p.(Leu734Ser) NC_000013.11:32336555:T:C Identity +NM_001110556.2:c.2203T>C NP_001104026.1:p.Tyr735His NC_000023.11:154364098:A:G p.(Tyr735His) NC_000023.11:154364098:A:G p.(Tyr735His) NC_000023.11:154364098:A:G Identity +NM_001278616.2:c.2152G>A NP_001265545.1:p.Val718Ile NC_000002.12:110649368:C:T p.(Val718Ile) NC_000002.12:110649368:C:T p.(Val718Ile) NC_000002.12:110649368:C:T Identity +NM_001365536.1:c.2231C>G NP_001352465.1:p.Pro744Arg NC_000002.12:166280468:G:C p.(Pro744Arg) NC_000002.12:166280468:G:C p.(Pro744Arg) NC_000002.12:166280468:G:C Identity +NM_001278616.2:c.2138C>G NP_001265545.1:p.Ala713Gly NC_000002.12:110650550:G:C p.(Ala713Gly) NC_000002.12:110650550:G:C p.(Ala713Gly) NC_000002.12:110650550:G:C Identity +NM_000388.4:c.2311A>G NP_000379.3:p.Met771Val NC_000003.12:122284264:A:G p.(Met771Val) NC_000003.12:122284264:A:G p.(Met771Val) NC_000003.12:122284264:A:G Identity +NM_001282386.1:c.1091T>C NP_001269315.1:p.Ile364Thr NC_000002.12:208239133:A:G p.(Ile364Thr) NC_000002.12:208239133:A:G p.(Ile364Thr) NC_000002.12:208239133:A:G Identity +NM_001317184.2:c.2146_2158del NP_001304113.1:p.Asp716fs NC_000016.10:68829680:GGCCTGGACGCTCGGCCTG:GGCCTG p.(Asp716LysfsTer2) NC_000016.10:68829680:GGCCTGGACGCTCGGCCTG:GGCCTG p.(Asp716LysfsTer2) NC_000016.10:68829686:GACGCTCGGCCTG: Analogous +NM_001211.6:c.2250G>C NP_001202.5:p.Met750Ile NC_000015.10:40209740:G:C p.(Met750Ile) NC_000015.10:40209740:G:C p.(Met750Ile) NC_000015.10:40209740:G:C Identity +NM_003803.4:c.2261C>T NP_003794.3:p.Ser754Leu NC_000018.10:3134772:G:A p.(Ser754Leu) NC_000018.10:3134772:G:A p.(Ser754Leu) NC_000018.10:3134772:G:A Identity +NM_003373.4:c.2219C>T NP_003364.1:p.Ala740Val NC_000010.11:74105137:C:T p.(Ala740Val) NC_000010.11:74105137:C:T p.(Ala740Val) NC_000010.11:74105137:C:T Identity +NM_001005476.4:c.221A>G NP_001005476.1:p.Glu74Gly NC_000002.12:158577358:A:G p.(Glu74Gly) NC_000002.12:158577358:A:G p.(Glu74Gly) NC_000002.12:158577358:A:G Identity +NM_001322004.2:c.1822C>A NP_001308933.1:p.Leu608Met NC_000007.14:5978643:G:T p.(Leu608Met) NC_000007.14:5978643:G:T p.(Leu608Met) NC_000007.14:5978643:G:T Identity +NM_001357321.2:c.1087G>C NP_001344250.1:p.Ala363Pro NC_000002.12:43872097:G:C p.(Ala363Pro) NC_000002.12:43872097:G:C p.(Ala363Pro) NC_000002.12:43872097:G:C Identity +NM_000458.4:c.1087T>C NP_000449.1:p.Ser363Pro NC_000017.11:37710621:A:G p.(Ser363Pro) NC_000017.11:37710621:A:G p.(Ser363Pro) NC_000017.11:37710621:A:G Identity +NM_006767.4:c.2209G>A NP_006758.2:p.Glu737Lys NC_000022.11:20996101:G:A p.(Glu737Lys) NC_000022.11:20996101:G:A p.(Glu737Lys) NC_000022.11:20996101:G:A Identity +NM_001430.5:c.2212A>C NP_001421.2:p.Lys738Gln NC_000002.12:46382013:A:C p.(Lys738Gln) NC_000002.12:46382013:A:C p.(Lys738Gln) NC_000002.12:46382013:A:C Identity +NM_000051.4:c.2214G>C NP_000042.3:p.Glu738Asp NC_000011.10:108256303:G:C p.(Glu738Asp) NC_000011.10:108256303:G:C p.(Glu738Asp) NC_000011.10:108256303:G:C Identity +NM_000492.3:c.2337delA NP_000483.3:p.Gly780Valfs NC_000007.14:117592502:AA:A ERR:Data provider error: ValueError: Transcript NM_000492.3 not found ERR:Data provider error: ValueError: Transcript NM_000492.3 not found ERR:AlignmentMapper(tx_ac=NM_000492.3, alt_ac=NM_000492.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000492.3, alt_ac=NM_000492.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000492.3 not found +NM_000384.3:c.10943T>C NP_000375.3:p.Val3648Ala NC_000002.12:21005924:A:G p.(Val3648Ala) NC_000002.12:21005924:A:G p.(Val3648Ala) NC_000002.12:21005924:A:G Identity +NM_000268.4:c.235A>G NP_000259.1:p.Lys79Glu NC_000022.11:29636870:A:G p.(Lys79Glu) NC_000022.11:29636870:A:G p.(Lys79Glu) NC_000022.11:29636870:A:G Identity +NM_001184.4:c.2368T>C NP_001175.2:p.Cys790Arg NC_000003.12:142553988:A:G p.(Cys790Arg) NC_000003.12:142553988:A:G p.(Cys790Arg) NC_000003.12:142553988:A:G Identity +NM_000314.8:c.1008C>A NP_000305.3:p.Tyr336Ter NC_000010.11:87961099:C:A p.(Tyr336Ter) NC_000010.11:87961099:C:A p.(Tyr336Ter) NC_000010.11:87961099:C:A Identity +NM_006767.4:c.2375G>A NP_006758.2:p.Cys792Tyr NC_000022.11:20996934:G:A p.(Cys792Tyr) NC_000022.11:20996934:G:A p.(Cys792Tyr) NC_000022.11:20996934:G:A Identity +NM_199420.4:c.2384A>G NP_955452.3:p.Asp795Gly NC_000003.12:121493615:T:C p.(Asp795Gly) NC_000003.12:121493615:T:C p.(Asp795Gly) NC_000003.12:121493615:T:C Identity +NM_001377260.1:c.238C>T NP_001364189.1:p.Pro80Ser NC_000001.11:231421650:G:A p.(Pro80Ser) NC_000001.11:231421650:G:A p.(Pro80Ser) NC_000001.11:231421650:G:A Identity +NM_001308093.3:c.1091C>G NP_001295022.1:p.Pro364Arg NC_000008.11:11757024:C:G p.(Pro364Arg) NC_000008.11:11757024:C:G p.(Pro364Arg) NC_000008.11:11757024:C:G Identity +NM_001407571.1:c.2031del NP_001394500.1:p.Asp678fs NC_000017.11:43093286:TTT:TT p.(Asp678IlefsTer4) NC_000017.11:43093286:TTT:TT p.(Asp678IlefsTer4) NC_000017.11:43093286:T: Analogous +NM_001211.6:c.2395C>G NP_001202.5:p.Gln799Glu NC_000015.10:40212507:C:G p.(Gln799Glu) NC_000015.10:40212507:C:G p.(Gln799Glu) NC_000015.10:40212507:C:G Identity +NM_001406774.1:c.1871C>T NP_001393703.1:p.Pro624Leu NC_000010.11:43119533:C:T p.(Pro624Leu) NC_000010.11:43119533:C:T p.(Pro624Leu) NC_000010.11:43119533:C:T Identity +NM_004444.5:c.1096C>G NP_004435.3:p.Pro366Ala NC_000007.14:100819757:G:C p.(Pro366Ala) NC_000007.14:100819757:G:C p.(Pro366Ala) NC_000007.14:100819757:G:C Identity +NM_000051.4:c.2285T>G NP_000042.3:p.Leu762Arg NC_000011.10:108257514:T:G p.(Leu762Arg) NC_000011.10:108257514:T:G p.(Leu762Arg) NC_000011.10:108257514:T:G Identity +NM_199420.4:c.2288C>T NP_955452.3:p.Thr763Ile NC_000003.12:121493711:G:A p.(Thr763Ile) NC_000003.12:121493711:G:A p.(Thr763Ile) NC_000003.12:121493711:G:A Identity +NM_001040108.2:c.2290G>T NP_001035197.1:p.Val764Phe NC_000014.9:75047365:C:A p.(Val764Phe) NC_000014.9:75047365:C:A p.(Val764Phe) NC_000014.9:75047365:C:A Identity +NM_001430.5:c.2227C>T NP_001421.2:p.Leu743Phe NC_000002.12:46382028:C:T p.(Leu743Phe) NC_000002.12:46382028:C:T p.(Leu743Phe) NC_000002.12:46382028:C:T Identity +NM_001395681.1:c.2231A>G NP_001382610.1:p.Lys744Arg NC_000014.9:95111341:T:C ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found ERR:AlignmentMapper(tx_ac=NM_001395681.1, alt_ac=NM_001395681.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001395681.1, alt_ac=NM_001395681.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001395681.1 not found +NM_002439.5:c.2239G>A NP_002430.3:p.Val747Ile NC_000005.10:80768988:G:A p.(Val747Ile) NC_000005.10:80768988:G:A p.(Val747Ile) NC_000005.10:80768988:G:A Identity +NM_020778.5:c.1653G>C NP_065829.4:p.Glu551Asp NC_000015.10:84840931:G:C p.(Glu551Asp) NC_000015.10:84840931:G:C p.(Glu551Asp) NC_000015.10:84840931:G:C Identity +NM_001321281.2:c.1918C>T NP_001308210.1:p.Arg640Cys NC_000019.10:49196491:C:T p.(Arg640Cys) NC_000019.10:49196491:C:T p.(Arg640Cys) NC_000019.10:49196491:C:T Identity +NM_001195573.1:c.2426C>A NP_001182502.1:p.Pro809His NC_000014.9:95108333:G:T p.(Pro809His) NC_000014.9:95108333:G:T p.(Pro809His) NC_000014.9:95108333:G:T Identity +NM_001321281.2:c.1954C>T NP_001308210.1:p.Arg652Trp NC_000019.10:49196527:C:T p.(Arg652Trp) NC_000019.10:49196527:C:T p.(Arg652Trp) NC_000019.10:49196527:C:T Identity +NM_001130066.2:c.1089C>A NP_001123538.1:p.Tyr363Ter NC_000006.12:33437993:C:A p.(Tyr363Ter) NC_000006.12:33437993:C:A p.(Tyr363Ter) NC_000006.12:33437993:C:A Identity +NM_001365951.3:c.2407C>T NP_001352880.1:p.Pro803Ser NC_000001.11:10323931:C:T p.(Pro803Ser) NC_000001.11:10323931:C:T p.(Pro803Ser) NC_000001.11:10323931:C:T Identity +NM_199420.4:c.2296T>G NP_955452.3:p.Ser766Ala NC_000003.12:121493703:A:C p.(Ser766Ala) NC_000003.12:121493703:A:C p.(Ser766Ala) NC_000003.12:121493703:A:C Identity +NM_001166108.2:c.2488G>T NP_001159580.1:p.Asp830Tyr NC_000004.12:168903771:G:T p.(Asp830Tyr) NC_000004.12:168903771:G:T p.(Asp830Tyr) NC_000004.12:168903771:G:T Identity +NM_001003800.2:c.2444C>T NP_001003800.1:p.Pro815Leu NC_000009.12:92715277:G:A p.(Pro815Leu) NC_000009.12:92715277:G:A p.(Pro815Leu) NC_000009.12:92715277:G:A Identity +NM_001407296.1:c.2389A>G NP_001394225.1:p.Thr797Ala NC_000016.10:23629704:T:C p.(Thr797Ala) NC_000016.10:23629704:T:C p.(Thr797Ala) NC_000016.10:23629704:T:C Identity +NM_006767.4:c.1099C>G NP_006758.2:p.Leu367Val NC_000022.11:20992318:C:G p.(Leu367Val) NC_000022.11:20992318:C:G p.(Leu367Val) NC_000022.11:20992318:C:G Identity +NM_000051.4:c.2451T>G NP_000042.3:p.Asp817Glu NC_000011.10:108259059:T:G p.(Asp817Glu) NC_000011.10:108259059:T:G p.(Asp817Glu) NC_000011.10:108259059:T:G Identity +NM_133437.4:c.23295A>T NP_597681.4:p.Glu7765Asp NC_000002.12:178612806:T:A p.(Glu7765Asp) NC_000002.12:178612806:T:A p.(Glu7765Asp) NC_000002.12:178612806:T:A Identity +NM_052947.4:c.2274G>C NP_443179.3:p.Arg758Ser NC_000018.10:58537912:C:G p.(Arg758Ser) NC_000018.10:58537912:C:G p.(Arg758Ser) NC_000018.10:58537912:C:G Identity +NM_000257.4:c.2284A>G NP_000248.2:p.Lys762Glu NC_000014.9:23425696:T:C p.(Lys762Glu) NC_000014.9:23425696:T:C p.(Lys762Glu) NC_000014.9:23425696:T:C Identity +NM_000268.4:c.231G>T NP_000259.1:p.Met77Ile NC_000022.11:29636866:G:T p.(Met77Ile) NC_000022.11:29636866:G:T p.(Met77Ile) NC_000022.11:29636866:G:T Identity +NM_199420.4:c.229C>A NP_955452.3:p.Pro77Thr NC_000003.12:121544840:G:T p.(Pro77Thr) NC_000003.12:121544840:G:T p.(Pro77Thr) NC_000003.12:121544840:G:T Identity +NM_001081640.2:c.10916A>G NP_001075109.1:p.Glu3639Gly NC_000008.11:47785303:T:C p.(Glu3639Gly) NC_000008.11:47785303:T:C p.(Glu3639Gly) NC_000008.11:47785303:T:C Identity +NM_000251.3:c.2307C>A NP_000242.1:p.Tyr769Ter NC_000002.12:47478367:C:A p.(Tyr769Ter) NC_000002.12:47478367:C:A p.(Tyr769Ter) NC_000002.12:47478367:C:A Identity +NM_001211.6:c.2461C>T NP_001202.5:p.His821Tyr NC_000015.10:40212573:C:T p.(His821Tyr) NC_000015.10:40212573:C:T p.(His821Tyr) NC_000015.10:40212573:C:T Identity +NM_000051.4:c.109C>G NP_000042.3:p.Pro37Ala NC_000011.10:108227811:C:G p.(Pro37Ala) NC_000011.10:108227811:C:G p.(Pro37Ala) NC_000011.10:108227811:C:G Identity +NM_000833.5:c.2473G>A NP_000824.1:p.Ala825Thr NC_000016.10:9768972:C:T p.(Ala825Thr) NC_000016.10:9768972:C:T p.(Ala825Thr) NC_000016.10:9768972:C:T Identity +NM_000057.4:c.2297C>G NP_000048.1:p.Thr766Ser NC_000015.10:90767012:C:G p.(Thr766Ser) NC_000015.10:90767012:C:G p.(Thr766Ser) NC_000015.10:90767012:C:G Identity +NM_024642.5:c.229G>A NP_078918.3:p.Ala77Thr NC_000009.12:98807926:G:A p.(Ala77Thr) NC_000009.12:98807926:G:A p.(Ala77Thr) NC_000009.12:98807926:G:A Identity +NM_000709.4:c.22G>C NP_000700.1:p.Ala8Pro NC_000019.10:41397848:G:C p.(Ala8Pro) NC_000019.10:41397848:G:C p.(Ala8Pro) NC_000019.10:41397848:G:C Identity +NM_020778.5:c.1698C>G NP_065829.4:p.Ser566Arg NC_000015.10:84856435:C:G p.(Ser566Arg) NC_000015.10:84856435:C:G p.(Ser566Arg) NC_000015.10:84856435:C:G Identity +NM_001367624.2:c.11020G>A NP_001354553.1:p.Ala3674Thr NC_000016.10:88438489:G:A p.(Ala3674Thr) NC_000016.10:88438489:G:A p.(Ala3674Thr) NC_000016.10:88438489:G:A Identity +NM_006767.4:c.2348C>A NP_006758.2:p.Thr783Lys NC_000022.11:20996907:C:A p.(Thr783Lys) NC_000022.11:20996907:C:A p.(Thr783Lys) NC_000022.11:20996907:C:A Identity +NM_000251.3:c.2318_2340del NP_000242.1:p.Lys773fs NC_000002.12:47478378:AGATTGGTGCTTTTTGCATGTTT: p.(Lys773SerfsTer6) NC_000002.12:47478378:AGATTGGTGCTTTTTGCATGTTT: p.(Lys773SerfsTer6) NC_000002.12:47478378:AGATTGGTGCTTTTTGCATGTTT: Analogous +NM_001379200.1:c.1118T>A NP_001366129.1:p.Leu373Gln NC_000022.11:19766469:T:A p.(Leu373Gln) NC_000022.11:19766469:T:A p.(Leu373Gln) NC_000022.11:19766469:T:A Identity +NM_001193304.3:c.233A>T NP_001180233.1:p.Asp78Val NC_000002.12:96265148:T:A p.(Asp78Val) NC_000002.12:96265148:T:A p.(Asp78Val) NC_000002.12:96265148:T:A Identity +NM_001354966.2:c.235T>G NP_001341895.1:p.Cys79Gly NC_000005.10:147824665:A:C p.(Cys79Gly) NC_000005.10:147824665:A:C p.(Cys79Gly) NC_000005.10:147824665:A:C Identity +NM_006231.4:c.2365G>T NP_006222.2:p.Ala789Ser NC_000012.12:132665404:C:A p.(Ala789Ser) NC_000012.12:132665404:C:A p.(Ala789Ser) NC_000012.12:132665404:C:A Identity +NM_000251.3:c.230G>T NP_000242.1:p.Ser77Ile NC_000002.12:47408418:G:T p.(Ser77Ile) NC_000002.12:47408418:G:T p.(Ser77Ile) NC_000002.12:47408418:G:T Identity +NM_001081640.2:c.2324A>G NP_001075109.1:p.Glu775Gly NC_000008.11:47927288:T:C p.(Glu775Gly) NC_000008.11:47927288:T:C p.(Glu775Gly) NC_000008.11:47927288:T:C Identity +NM_001278616.2:c.2437A>C NP_001265545.1:p.Ile813Leu NC_000002.12:110641769:T:G p.(Ile813Leu) NC_000002.12:110641769:T:G p.(Ile813Leu) NC_000002.12:110641769:T:G Identity +NM_002439.5:c.1093A>G NP_002430.3:p.Thr365Ala NC_000005.10:80675047:A:G p.(Thr365Ala) NC_000005.10:80675047:A:G p.(Thr365Ala) NC_000005.10:80675047:A:G Identity +NM_001317184.2:c.2216G>C NP_001304113.1:p.Arg739Pro NC_000016.10:68829756:G:C p.(Arg739Pro) NC_000016.10:68829756:G:C p.(Arg739Pro) NC_000016.10:68829756:G:C Identity +NM_001278616.2:c.180T>G NP_001265545.1:p.Ser60Arg NC_000002.12:110672842:A:C p.(Ser60Arg) NC_000002.12:110672842:A:C p.(Ser60Arg) NC_000002.12:110672842:A:C Identity +NM_032043.3:c.2506A>G NP_114432.2:p.Arg836Gly NC_000017.11:61693498:T:C p.(Arg836Gly) NC_000017.11:61693498:T:C p.(Arg836Gly) NC_000017.11:61693498:T:C Identity +NM_005472.5:c.250A>G NP_005463.1:p.Lys84Glu NC_000011.10:74457313:T:C p.(Lys84Glu) NC_000011.10:74457313:T:C p.(Lys84Glu) NC_000011.10:74457313:T:C Identity +NM_000321.3:c.2336T>C NP_000312.2:p.Leu779Ser NC_000013.11:48465214:T:C p.(Leu779Ser) NC_000013.11:48465214:T:C p.(Leu779Ser) NC_000013.11:48465214:T:C Identity +NM_002439.5:c.2347C>T NP_002430.3:p.Pro783Ser NC_000005.10:80778747:C:T p.(Pro783Ser) NC_000005.10:80778747:C:T p.(Pro783Ser) NC_000005.10:80778747:C:T Identity +NM_001347828.2:c.2443C>A NP_001334757.1:p.Leu815Ile NC_000004.12:54285414:C:A p.(Leu815Ile) NC_000004.12:54285414:C:A p.(Leu815Ile) NC_000004.12:54285414:C:A Identity +NM_017780.4:c.2413del NP_060250.2:p.Ile805fs NC_000008.11:60801558:AAAAAA:AAAAA p.(Ile805LeufsTer2) NC_000008.11:60801558:AAAAAA:AAAAA p.(Ile805LeufsTer2) NC_000008.11:60801563:A: Analogous +NM_000020.3:c.241C>T NP_000011.2:p.Pro81Ser NC_000012.12:51913277:C:T p.(Pro81Ser) NC_000012.12:51913277:C:T p.(Pro81Ser) NC_000012.12:51913277:C:T Identity +NM_000075.4:c.239C>T NP_000066.1:p.Thr80Ile NC_000012.12:57751321:G:A p.(Thr80Ile) NC_000012.12:57751321:G:A p.(Thr80Ile) NC_000012.12:57751321:G:A Identity +NM_001134363.3:c.2450G>A NP_001127835.2:p.Gly817Asp NC_000010.11:110812846:G:A p.(Gly817Asp) NC_000010.11:110812846:G:A p.(Gly817Asp) NC_000010.11:110812846:G:A Identity +NM_001081640.2:c.2556A>T NP_001075109.1:p.Arg852Ser NC_000008.11:47915388:T:A p.(Arg852Ser) NC_000008.11:47915388:T:A p.(Arg852Ser) NC_000008.11:47915388:T:A Identity +NM_198578.4:c.2579G>C NP_940980.4:p.Ser860Thr NC_000012.12:40287428:G:C p.(Ser860Thr) NC_000012.12:40287428:G:C p.(Ser860Thr) NC_000012.12:40287428:G:C Identity +NM_004304.5:c.2436T>A NP_004295.2:p.His812Gln NC_000002.12:29233615:A:T p.(His812Gln) NC_000002.12:29233615:A:T p.(His812Gln) NC_000002.12:29233615:A:T Identity +NM_001290309.3:c.2153C>T NP_001277238.1:p.Ala718Val NC_000005.10:138933829:C:T p.(Ala718Val) NC_000005.10:138933829:C:T p.(Ala718Val) NC_000005.10:138933829:C:T Identity +NM_006767.4:c.2468C>T NP_006758.2:p.Ser823Phe NC_000022.11:20997292:C:T p.(Ser823Phe) NC_000022.11:20997292:C:T p.(Ser823Phe) NC_000022.11:20997292:C:T Identity +NM_000264.5:c.2480G>C NP_000255.2:p.Ser827Thr NC_000009.12:95467195:C:G p.(Ser827Thr) NC_000009.12:95467195:C:G p.(Ser827Thr) NC_000009.12:95467195:C:G Identity +NM_001407571.1:c.2375T>C NP_001394500.1:p.Val792Ala NC_000017.11:43092942:A:G p.(Val792Ala) NC_000017.11:43092942:A:G p.(Val792Ala) NC_000017.11:43092942:A:G Identity +NM_001370085.1:c.241G>T NP_001357014.1:p.Val81Leu NC_000020.11:765533:C:A p.(Val81Leu) NC_000020.11:765533:C:A p.(Val81Leu) NC_000020.11:765533:C:A Identity +NM_001166108.2:c.2473A>G NP_001159580.1:p.Ile825Val NC_000004.12:168903756:A:G p.(Ile825Val) NC_000004.12:168903756:A:G p.(Ile825Val) NC_000004.12:168903756:A:G Identity +NM_199420.4:c.2448T>A NP_955452.3:p.His816Gln NC_000003.12:121493551:A:T p.(His816Gln) NC_000003.12:121493551:A:T p.(His816Gln) NC_000003.12:121493551:A:T Identity +NM_198578.4:c.2450G>C NP_940980.4:p.Trp817Ser NC_000012.12:40284082:G:C p.(Trp817Ser) NC_000012.12:40284082:G:C p.(Trp817Ser) NC_000012.12:40284082:G:C Identity +NM_000179.3:c.2453T>C NP_000170.1:p.Leu818Pro NC_000002.12:47800435:T:C p.(Leu818Pro) NC_000002.12:47800435:T:C p.(Leu818Pro) NC_000002.12:47800435:T:C Identity +NM_000218.3:c.1099C>T NP_000209.2:p.Gln367Ter NC_000011.10:2585277:C:T p.(Gln367Ter) NC_000011.10:2585277:C:T p.(Gln367Ter) NC_000011.10:2585277:C:T Identity +NM_001303245.3:c.2459A>G NP_001290174.1:p.Lys820Arg NC_000003.12:141610002:A:G p.(Lys820Arg) NC_000003.12:141610002:A:G p.(Lys820Arg) NC_000003.12:141610002:A:G Identity +NM_006767.4:c.2467T>C NP_006758.2:p.Ser823Pro NC_000022.11:20997291:T:C p.(Ser823Pro) NC_000022.11:20997291:T:C p.(Ser823Pro) NC_000022.11:20997291:T:C Identity +NM_002769.5:c.246G>T NP_002760.1:p.Glu82Asp NC_000007.14:142751818:G:T p.(Glu82Asp) NC_000007.14:142751818:G:T p.(Glu82Asp) NC_000007.14:142751818:G:T Identity +NM_006767.4:c.2480A>C NP_006758.2:p.His827Pro NC_000022.11:20997304:A:C p.(His827Pro) NC_000022.11:20997304:A:C p.(His827Pro) NC_000022.11:20997304:A:C Identity +NM_001211.6:c.2488G>C NP_001202.5:p.Asp830His NC_000015.10:40212600:G:C p.(Asp830His) NC_000015.10:40212600:G:C p.(Asp830His) NC_000015.10:40212600:G:C Identity +NM_001406635.1:c.2504_2505delAT NP_001393564.1:p.Asn835Ilefs NC_000002.12:47480740:AT: p.(Asn835IlefsTer3) NC_000002.12:47480740:AT: p.(Asn835IlefsTer3) NC_000002.12:47480740:AT: Analogous +NM_001256182.2:c.2506G>A NP_001243111.1:p.Asp836Asn NC_000016.10:89284035:C:T p.(Asp836Asn) NC_000016.10:89284035:C:T p.(Asp836Asn) NC_000016.10:89284035:C:T Identity +NM_001999.4:c.2606A>C NP_001990.2:p.Asn869Thr NC_000005.10:128357343:T:G p.(Asn869Thr) NC_000005.10:128357343:T:G p.(Asn869Thr) NC_000005.10:128357343:T:G Identity +NM_001098623.2:c.2612G>T NP_001092093.2:p.Arg871Leu NC_000001.11:228217246:G:T p.(Arg871Leu) NC_000001.11:228217246:G:T p.(Arg871Leu) NC_000001.11:228217246:G:T Identity +NM_001166108.2:c.2480G>C NP_001159580.1:p.Trp827Ser NC_000004.12:168903763:G:C p.(Trp827Ser) NC_000004.12:168903763:G:C p.(Trp827Ser) NC_000004.12:168903763:G:C Identity +NM_006767.4:c.242A>T NP_006758.2:p.Tyr81Phe NC_000022.11:20983067:A:T p.(Tyr81Phe) NC_000022.11:20983067:A:T p.(Tyr81Phe) NC_000022.11:20983067:A:T Identity +NM_001430.5:c.2449C>T NP_001421.2:p.His817Tyr NC_000002.12:46382585:C:T p.(His817Tyr) NC_000002.12:46382585:C:T p.(His817Tyr) NC_000002.12:46382585:C:T Identity +NM_000238.4:c.250C>T NP_000229.1:p.Gln84Ter NC_000007.14:150974767:G:A p.(Gln84Ter) NC_000007.14:150974767:G:A p.(Gln84Ter) NC_000007.14:150974767:G:A Identity +NM_001282403.2:c.250G>A NP_001269332.1:p.Glu84Lys NC_000007.14:76057423:G:A p.(Glu84Lys) NC_000007.14:76057423:G:A p.(Glu84Lys) NC_000007.14:76057423:G:A Identity +NM_000179.2:c.2673_2674CT[1] NP_000170.1:p.Ser892Cysfs NC_000002.12:47800654:TCTCTCT:TCT ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:Data provider error: ValueError: Transcript NM_000179.2 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000179.2 not found +NM_000384.3:c.2522G>C NP_000375.3:p.Gly841Ala NC_000002.12:21023606:C:G p.(Gly841Ala) NC_000002.12:21023606:C:G p.(Gly841Ala) NC_000002.12:21023606:C:G Identity +NM_001317184.2:c.2351T>G NP_001304113.1:p.Leu784Arg NC_000016.10:68833383:T:G p.(Leu784Arg) NC_000016.10:68833383:T:G p.(Leu784Arg) NC_000016.10:68833383:T:G Identity +NM_002439.5:c.2464T>G NP_002430.3:p.Cys822Gly NC_000005.10:80787592:T:G p.(Cys822Gly) NC_000005.10:80787592:T:G p.(Cys822Gly) NC_000005.10:80787592:T:G Identity +NM_001868.4:c.246C>A NP_001859.1:p.His82Gln NC_000007.14:130381727:C:A p.(His82Gln) NC_000007.14:130381727:C:A p.(His82Gln) NC_000007.14:130381727:C:A Identity +NM_205836.3:c.2540G>C NP_995308.1:p.Arg847Thr NC_000005.10:148427833:G:C p.(Arg847Thr) NC_000005.10:148427833:G:C p.(Arg847Thr) NC_000005.10:148427833:G:C Identity +NM_205836.3:c.2540G>T NP_995308.1:p.Arg847Met NC_000005.10:148427833:G:T p.(Arg847Met) NC_000005.10:148427833:G:T p.(Arg847Met) NC_000005.10:148427833:G:T Identity +NM_001098623.2:c.2554C>T NP_001092093.2:p.Arg852Trp NC_000001.11:228217188:C:T p.(Arg852Trp) NC_000001.11:228217188:C:T p.(Arg852Trp) NC_000001.11:228217188:C:T Identity +NM_001290309.3:c.2171A>C NP_001277238.1:p.Asn724Thr NC_000005.10:138933847:A:C p.(Asn724Thr) NC_000005.10:138933847:A:C p.(Asn724Thr) NC_000005.10:138933847:A:C Identity +NM_001256850.1:c.47118T>A NP_001243779.1:p.Tyr15706Ter NC_000002.12:178609268:A:T p.(Tyr15706Ter) NC_000002.12:178609268:A:T p.(Tyr15706Ter) NC_000002.12:178609268:A:T Identity +NM_001194937.2:c.2461A>G NP_001181866.1:p.Met821Val NC_000001.11:151406967:T:C p.(Met821Val) NC_000001.11:151406967:T:C p.(Met821Val) NC_000001.11:151406967:T:C Identity +NM_001347828.2:c.2654A>G NP_001334757.1:p.Lys885Arg NC_000004.12:54287445:A:G p.(Lys885Arg) NC_000004.12:54287445:A:G p.(Lys885Arg) NC_000004.12:54287445:A:G Identity +NM_001430.5:c.2578G>A NP_001421.2:p.Gly860Arg NC_000002.12:46384624:G:A p.(Gly860Arg) NC_000002.12:46384624:G:A p.(Gly860Arg) NC_000002.12:46384624:G:A Identity +NM_001321281.2:c.2239G>A NP_001308210.1:p.Asp747Asn NC_000019.10:49196812:G:A p.(Asp747Asn) NC_000019.10:49196812:G:A p.(Asp747Asn) NC_000019.10:49196812:G:A Identity +NM_001079846.1:c.2381C>A NP_001073315.1:p.Pro794His NC_000016.10:3770954:G:T p.(Pro794His) NC_000016.10:3770954:G:T p.(Pro794His) NC_000016.10:3770954:G:T Identity +NM_001290309.3:c.2201A>G NP_001277238.1:p.Tyr734Cys NC_000005.10:138933877:A:G p.(Tyr734Cys) NC_000005.10:138933877:A:G p.(Tyr734Cys) NC_000005.10:138933877:A:G Identity +NM_001005476.4:c.2594G>A NP_001005476.1:p.Arg865Gln NC_000002.12:158666428:G:A p.(Arg865Gln) NC_000002.12:158666428:G:A p.(Arg865Gln) NC_000002.12:158666428:G:A Identity +NM_014141.6:c.260T>C NP_054860.1:p.Val87Ala NC_000007.14:146839761:T:C p.(Val87Ala) NC_000007.14:146839761:T:C p.(Val87Ala) NC_000007.14:146839761:T:C Identity +NM_000251.3:c.2662C>A NP_000242.1:p.Leu888Met NC_000002.12:47482805:C:A p.(Leu888Met) NC_000002.12:47482805:C:A p.(Leu888Met) NC_000002.12:47482805:C:A Identity +NM_000548.5:c.267G>T NP_000539.2:p.Leu89Phe NC_000016.10:2053382:G:T p.(Leu89Phe) NC_000016.10:2053382:G:T p.(Leu89Phe) NC_000016.10:2053382:G:T Identity +NM_001195227.2:c.2254A>G NP_001182156.1:p.Ile752Val NC_000019.10:49200342:A:G p.(Ile752Val) NC_000019.10:49200342:A:G p.(Ile752Val) NC_000019.10:49200342:A:G Identity +NM_001377260.1:c.25G>T NP_001364189.1:p.Gly9Cys NC_000001.11:231421863:C:A p.(Gly9Cys) NC_000001.11:231421863:C:A p.(Gly9Cys) NC_000001.11:231421863:C:A Identity +NM_001297709.2:c.231G>C NP_001284638.1:p.Glu77Asp NC_000012.12:8650575:C:G p.(Glu77Asp) NC_000012.12:8650575:C:G p.(Glu77Asp) NC_000012.12:8650575:C:G Identity +NM_032043.3:c.2639C>G NP_114432.2:p.Ser880Cys NC_000017.11:61686101:G:C p.(Ser880Cys) NC_000017.11:61686101:G:C p.(Ser880Cys) NC_000017.11:61686101:G:C Identity +NM_001040113.2:c.1130C>T NP_001035202.1:p.Ala377Val NC_000016.10:15763815:G:A p.(Ala377Val) NC_000016.10:15763815:G:A p.(Ala377Val) NC_000016.10:15763815:G:A Identity +NM_000251.3:c.1109C>T NP_000242.1:p.Ala370Val NC_000002.12:47429773:C:T p.(Ala370Val) NC_000002.12:47429773:C:T p.(Ala370Val) NC_000002.12:47429773:C:T Identity +NM_000179.3:c.2535T>A NP_000170.1:p.Tyr845Ter NC_000002.12:47800517:T:A p.(Tyr845Ter) NC_000002.12:47800517:T:A p.(Tyr845Ter) NC_000002.12:47800517:T:A Identity +NM_000251.3:c.2540_2541del NP_000242.1:p.Lys847fs NC_000002.12:47480775:AAA:A p.(Lys847SerfsTer5) NC_000002.12:47480775:AAA:A p.(Lys847SerfsTer5) NC_000002.12:47480776:AA: Analogous +NM_001430.5:c.2541C>A NP_001421.2:p.Asn847Lys NC_000002.12:46384587:C:A p.(Asn847Lys) NC_000002.12:46384587:C:A p.(Asn847Lys) NC_000002.12:46384587:C:A Identity +NM_001365951.3:c.2692G>A NP_001352880.1:p.Gly898Ser NC_000001.11:10326126:G:A p.(Gly898Ser) NC_000001.11:10326126:G:A p.(Gly898Ser) NC_000001.11:10326126:G:A Identity +NM_000214.3:c.2557G>A NP_000205.1:p.Ala853Thr NC_000020.11:10642502:C:T p.(Ala853Thr) NC_000020.11:10642502:C:T p.(Ala853Thr) NC_000020.11:10642502:C:T Identity +NM_001347828.2:c.2632G>A NP_001334757.1:p.Gly878Ser NC_000004.12:54285957:G:A p.(Gly878Ser) NC_000004.12:54285957:G:A p.(Gly878Ser) NC_000004.12:54285957:G:A Identity +NM_001365951.3:c.2707C>T NP_001352880.1:p.Arg903Cys NC_000001.11:10326141:C:T p.(Arg903Cys) NC_000001.11:10326141:C:T p.(Arg903Cys) NC_000001.11:10326141:C:T Identity +NM_000179.3:c.2569del NP_000170.1:p.Asp857fs NC_000002.12:47800551:G: p.(Asp857IlefsTer11) NC_000002.12:47800551:G: p.(Asp857IlefsTer11) NC_000002.12:47800551:G: Analogous +NM_001365684.2:c.1702_1703delCA NP_001352613.2:p.His568Cysfs NC_000005.10:177210972:ACA:A p.(His568CysfsTer15) NC_000005.10:177210972:ACA:A p.(His568CysfsTer15) NC_000005.10:177210973:CA: Analogous +NM_001256850.1:c.48022G>A NP_001243779.1:p.Ala16008Thr NC_000002.12:178607841:C:T p.(Ala16008Thr) NC_000002.12:178607841:C:T p.(Ala16008Thr) NC_000002.12:178607841:C:T Identity +NM_001347828.2:c.2674A>G NP_001334757.1:p.Ile892Val NC_000004.12:54287465:A:G p.(Ile892Val) NC_000004.12:54287465:A:G p.(Ile892Val) NC_000004.12:54287465:A:G Identity +NM_001082486.2:c.847G>A NP_001075955.2:p.Gly283Ser NC_000016.10:67658344:C:T p.(Gly283Ser) NC_000016.10:67658344:C:T p.(Gly283Ser) NC_000016.10:67658344:C:T Identity +NM_198578.4:c.2623T>A NP_940980.4:p.Trp875Arg NC_000012.12:40287472:T:A p.(Trp875Arg) NC_000012.12:40287472:T:A p.(Trp875Arg) NC_000012.12:40287472:T:A Identity +NM_000238.4:c.2647del NP_000229.1:p.Arg883fs NC_000007.14:150948488:G: p.(Arg883GlyfsTer91) NC_000007.14:150948488:G: p.(Arg883GlyfsTer91) NC_000007.14:150948488:G: Analogous +NM_000179.3:c.2678T>C NP_000170.1:p.Leu893Pro NC_000002.12:47800660:T:C p.(Leu893Pro) NC_000002.12:47800660:T:C p.(Leu893Pro) NC_000002.12:47800660:T:C Identity +NM_001130144.3:c.110T>C NP_001123616.1:p.Leu37Pro NC_000011.10:65557849:A:G p.(Leu37Pro) NC_000011.10:65557849:A:G p.(Leu37Pro) NC_000011.10:65557849:A:G Identity +NM_001256849.1:c.270G>T NP_001243778.1:p.Gln90His NC_000019.10:50399437:G:T p.(Gln90His) NC_000019.10:50399437:G:T p.(Gln90His) NC_000019.10:50399437:G:T Identity +NM_001081640.2:c.11105C>T NP_001075109.1:p.Pro3702Leu NC_000008.11:47785114:G:A p.(Pro3702Leu) NC_000008.11:47785114:G:A p.(Pro3702Leu) NC_000008.11:47785114:G:A Identity +NM_002439.5:c.2711C>G NP_002430.3:p.Ser904Cys NC_000005.10:80813638:C:G p.(Ser904Cys) NC_000005.10:80813638:C:G p.(Ser904Cys) NC_000005.10:80813638:C:G Identity +NM_003673.4:c.271C>A NP_003664.1:p.Leu91Met NC_000017.11:39665875:C:A p.(Leu91Met) NC_000017.11:39665875:C:A p.(Leu91Met) NC_000017.11:39665875:C:A Identity +NM_004444.5:c.271C>T NP_004435.3:p.Arg91Cys NC_000007.14:100823783:G:A p.(Arg91Cys) NC_000007.14:100823783:G:A p.(Arg91Cys) NC_000007.14:100823783:G:A Identity +NM_000388.4:c.2726C>T NP_000379.3:p.Thr909Ile NC_000003.12:122284679:C:T p.(Thr909Ile) NC_000003.12:122284679:C:T p.(Thr909Ile) NC_000003.12:122284679:C:T Identity +NM_001040108.2:c.2735del NP_001035197.1:p.Cys912fs NC_000014.9:75046920:C: p.(Cys912SerfsTer4) NC_000014.9:75046920:C: p.(Cys912SerfsTer4) NC_000014.9:75046920:C: Analogous +NM_001098623.2:c.11117T>C NP_001092093.2:p.Met3706Thr NC_000001.11:228293601:T:C p.(Met3706Thr) NC_000001.11:228293601:T:C p.(Met3706Thr) NC_000001.11:228293601:T:C Identity +NM_001278616.2:c.2666A>G NP_001265545.1:p.His889Arg NC_000002.12:110641363:T:C p.(His889Arg) NC_000002.12:110641363:T:C p.(His889Arg) NC_000002.12:110641363:T:C Identity +NM_001031714.4:c.1111A>G NP_001026884.3:p.Ser371Gly NC_000014.9:104707377:A:G p.(Ser371Gly) NC_000014.9:104707377:A:G p.(Ser371Gly) NC_000014.9:104707377:A:G Identity +NM_001184.4:c.272A>T NP_001175.2:p.Glu91Val NC_000003.12:142566140:T:A p.(Glu91Val) NC_000003.12:142566140:T:A p.(Glu91Val) NC_000003.12:142566140:T:A Identity +NM_001040151.2:c.272G>T NP_001035241.1:p.Arg91Leu NC_000011.10:123642618:C:A p.(Arg91Leu) NC_000011.10:123642618:C:A p.(Arg91Leu) NC_000011.10:123642618:C:A Identity +NM_001407751.1:c.2584A>T NP_001394680.1:p.Asn862Tyr NC_000017.11:43092805:T:A p.(Asn862Tyr) NC_000017.11:43092805:T:A p.(Asn862Tyr) NC_000017.11:43092805:T:A Identity +NM_001040108.2:c.2759G>T NP_001035197.1:p.Cys920Phe NC_000014.9:75046896:C:A p.(Cys920Phe) NC_000014.9:75046896:C:A p.(Cys920Phe) NC_000014.9:75046896:C:A Identity +NM_002317.7:c.275T>C NP_002308.2:p.Leu92Pro NC_000005.10:122077710:A:G p.(Leu92Pro) NC_000005.10:122077710:A:G p.(Leu92Pro) NC_000005.10:122077710:A:G Identity +NM_001430.5:c.275T>G NP_001421.2:p.Leu92Arg NC_000002.12:46356207:T:G p.(Leu92Arg) NC_000002.12:46356207:T:G p.(Leu92Arg) NC_000002.12:46356207:T:G Identity +NM_000057.4:c.2762G>C NP_000048.1:p.Gly921Ala NC_000015.10:90785019:G:C p.(Gly921Ala) NC_000015.10:90785019:G:C p.(Gly921Ala) NC_000015.10:90785019:G:C Identity +NM_000400.4:c.276C>A NP_000391.1:p.Asn92Lys NC_000019.10:45368713:G:T p.(Asn92Lys) NC_000019.10:45368713:G:T p.(Asn92Lys) NC_000019.10:45368713:G:T Identity +NM_001144769.5:c.11147A>G NP_001138241.1:p.Asn3716Ser NC_000006.12:56529538:T:C p.(Asn3716Ser) NC_000006.12:56529538:T:C p.(Asn3716Ser) NC_000006.12:56529538:T:C Identity +NM_001282403.2:c.274G>T NP_001269332.1:p.Gly92Cys NC_000007.14:76057447:G:T p.(Gly92Cys) NC_000007.14:76057447:G:T p.(Gly92Cys) NC_000007.14:76057447:G:T Identity +NM_001943.5:c.2759T>C NP_001934.2:p.Val920Ala NC_000018.10:31546144:T:C p.(Val920Ala) NC_000018.10:31546144:T:C p.(Val920Ala) NC_000018.10:31546144:T:C Identity +NM_001321307.1:c.2696C>G NP_001308236.1:p.Ala899Gly NC_000011.10:108172287:G:C p.(Ala899Gly) NC_000011.10:108172287:G:C p.(Ala899Gly) NC_000011.10:108172287:G:C Identity +NM_000038.6:c.2699C>T NP_000029.2:p.Ser900Phe NC_000005.10:112838292:C:T p.(Ser900Phe) NC_000005.10:112838292:C:T p.(Ser900Phe) NC_000005.10:112838292:C:T Identity +NM_001354966.2:c.26T>C NP_001341895.1:p.Leu9Pro NC_000005.10:147831551:A:G p.(Leu9Pro) NC_000005.10:147831551:A:G p.(Leu9Pro) NC_000005.10:147831551:A:G Identity +NM_001040108.2:c.2701A>C NP_001035197.1:p.Asn901His NC_000014.9:75046954:T:G p.(Asn901His) NC_000014.9:75046954:T:G p.(Asn901His) NC_000014.9:75046954:T:G Identity +NM_001377218.1:c.2707G>A NP_001364147.1:p.Val903Ile NC_000002.12:158666541:G:A p.(Val903Ile) NC_000002.12:158666541:G:A p.(Val903Ile) NC_000002.12:158666541:G:A Identity +NM_001081640.2:c.271A>G NP_001075109.1:p.Ile91Val NC_000008.11:47957223:T:C p.(Ile91Val) NC_000008.11:47957223:T:C p.(Ile91Val) NC_000008.11:47957223:T:C Identity +NM_000314.8:c.275A>T NP_000305.3:p.Asp92Val NC_000010.11:87933033:A:T p.(Asp92Val) NC_000010.11:87933033:A:T p.(Asp92Val) NC_000010.11:87933033:A:T Identity +NM_001184.4:c.2786A>C NP_001175.2:p.Tyr929Ser NC_000003.12:142553245:T:G p.(Tyr929Ser) NC_000003.12:142553245:T:G p.(Tyr929Ser) NC_000003.12:142553245:T:G Identity +NM_001184.4:c.2786A>G NP_001175.2:p.Tyr929Cys NC_000003.12:142553245:T:C p.(Tyr929Cys) NC_000003.12:142553245:T:C p.(Tyr929Cys) NC_000003.12:142553245:T:C Identity +NM_198578.4:c.2787G>C NP_940980.4:p.Leu929Phe NC_000012.12:40293641:G:C p.(Leu929Phe) NC_000012.12:40293641:G:C p.(Leu929Phe) NC_000012.12:40293641:G:C Identity +NM_000400.4:c.279C>A NP_000391.1:p.Phe93Leu NC_000019.10:45368710:G:T p.(Phe93Leu) NC_000019.10:45368710:G:T p.(Phe93Leu) NC_000019.10:45368710:G:T Identity +NM_199420.4:c.2743G>C NP_955452.3:p.Glu915Gln NC_000003.12:121490187:C:G p.(Glu915Gln) NC_000003.12:121490187:C:G p.(Glu915Gln) NC_000003.12:121490187:C:G Identity +NM_052947.4:c.2744A>G NP_443179.3:p.Glu915Gly NC_000018.10:58537442:T:C p.(Glu915Gly) NC_000018.10:58537442:T:C p.(Glu915Gly) NC_000018.10:58537442:T:C Identity +NM_001407296.1:c.2719G>C NP_001394225.1:p.Asp907His NC_000016.10:23624063:C:G p.(Asp907His) NC_000016.10:23624063:C:G p.(Asp907His) NC_000016.10:23624063:C:G Identity +NM_001035512.3:c.176C>T NP_001030589.1:p.Pro59Leu NC_000001.11:161356712:C:T p.(Pro59Leu) NC_000001.11:161356712:C:T p.(Pro59Leu) NC_000001.11:161356712:C:T Identity +NM_000251.3:c.2792A>T NP_000242.1:p.Lys931Ile NC_000002.12:47482935:A:T p.(Lys931Ile) NC_000002.12:47482935:A:T p.(Lys931Ile) NC_000002.12:47482935:A:T Identity +NM_198578.4:c.2792G>A NP_940980.4:p.Arg931Lys NC_000012.12:40293646:G:A p.(Arg931Lys) NC_000012.12:40293646:G:A p.(Arg931Lys) NC_000012.12:40293646:G:A Identity +NM_001178133.2:c.278T>G NP_001171604.1:p.Phe93Cys NC_000010.11:102509263:T:G p.(Phe93Cys) NC_000010.11:102509263:T:G p.(Phe93Cys) NC_000010.11:102509263:T:G Identity +NM_001029835.2:c.344A>G NP_001025006.1:p.Asn115Ser NC_000007.14:45063993:A:G p.(Asn115Ser) NC_000007.14:45063993:A:G p.(Asn115Ser) NC_000007.14:45063993:A:G Identity +NM_000264.5:c.2822del NP_000255.2:p.Ile941fs NC_000009.12:95459664:A: p.(Ile941ThrfsTer21) NC_000009.12:95459664:A: p.(Ile941ThrfsTer21) NC_000009.12:95459664:A: Analogous +NM_001294332.2:c.968T>C NP_001281261.1:p.Leu323Pro NC_000005.10:235190:T:C p.(Leu323Pro) NC_000005.10:235190:T:C p.(Leu323Pro) NC_000005.10:235190:T:C Identity +NM_000179.3:c.2751C>G NP_000170.1:p.Asp917Glu NC_000002.12:47800733:C:G p.(Asp917Glu) NC_000002.12:47800733:C:G p.(Asp917Glu) NC_000002.12:47800733:C:G Identity +NM_001353229.2:c.275A>C NP_001340158.1:p.His92Pro NC_000017.11:17226296:T:G p.(His92Pro) NC_000017.11:17226296:T:G p.(His92Pro) NC_000017.11:17226296:T:G Identity +NM_004304.5:c.2827G>C NP_004295.2:p.Ala943Pro NC_000002.12:29227660:C:G p.(Ala943Pro) NC_000002.12:29227660:C:G p.(Ala943Pro) NC_000002.12:29227660:C:G Identity +NM_000257.4:c.2819A>C NP_000248.2:p.Lys940Thr NC_000014.9:23424009:T:G p.(Lys940Thr) NC_000014.9:23424009:T:G p.(Lys940Thr) NC_000014.9:23424009:T:G Identity +NM_002471.4:c.2822A>G NP_002462.2:p.Lys941Arg NC_000014.9:23393771:T:C p.(Lys941Arg) NC_000014.9:23393771:T:C p.(Lys941Arg) NC_000014.9:23393771:T:C Identity +NM_000179.3:c.2831dup NP_000170.1:p.Arg945fs NC_000002.12:47800813:T:TT p.(Arg945LysfsTer4) NC_000002.12:47800813:T:TT p.(Arg945LysfsTer4) ERR:SPDI Analogous +NM_000492.4:c.2836A>C NP_000483.3:p.Lys946Gln NC_000007.14:117603709:A:C p.(Lys946Gln) NC_000007.14:117603709:A:C p.(Lys946Gln) NC_000007.14:117603709:A:C Identity +NM_000244.4:c.283G>A NP_000235.3:p.Ala95Thr NC_000011.10:64809826:C:T p.(Ala95Thr) NC_000011.10:64809826:C:T p.(Ala95Thr) NC_000011.10:64809826:C:T Identity +NM_006231.4:c.2776G>A NP_006222.2:p.Glu926Lys NC_000012.12:132661614:C:T p.(Glu926Lys) NC_000012.12:132661614:C:T p.(Glu926Lys) NC_000012.12:132661614:C:T Identity +NM_001195573.1:c.2780A>G NP_001182502.1:p.Tyr927Cys NC_000014.9:95107631:T:C p.(Tyr927Cys) NC_000014.9:95107631:T:C p.(Tyr927Cys) NC_000014.9:95107631:T:C Identity +NM_001128844.3:c.1114T>A NP_001122316.1:p.Tyr372Asn NC_000019.10:10987919:T:A p.(Tyr372Asn) NC_000019.10:10987919:T:A p.(Tyr372Asn) NC_000019.10:10987919:T:A Identity +NM_001082486.2:c.856T>C NP_001075955.2:p.Ser286Pro NC_000016.10:67658335:A:G p.(Ser286Pro) NC_000016.10:67658335:A:G p.(Ser286Pro) NC_000016.10:67658335:A:G Identity +NM_005585.5:c.1115A>G NP_005576.3:p.Asn372Ser NC_000015.10:66781158:A:G p.(Asn372Ser) NC_000015.10:66781158:A:G p.(Asn372Ser) NC_000015.10:66781158:A:G Identity +NM_001128844.3:c.2847G>A NP_001122316.1:p.Met949Ile NC_000019.10:11021954:G:A p.(Met949Ile) NC_000019.10:11021954:G:A p.(Met949Ile) NC_000019.10:11021954:G:A Identity +NM_001278616.2:c.2791A>G NP_001265545.1:p.Ile931Val NC_000002.12:110641137:T:C p.(Ile931Val) NC_000002.12:110641137:T:C p.(Ile931Val) NC_000002.12:110641137:T:C Identity +NM_005751.5:c.2866T>C NP_005742.4:p.Ser956Pro NC_000007.14:92002782:T:C p.(Ser956Pro) NC_000007.14:92002782:T:C p.(Ser956Pro) NC_000007.14:92002782:T:C Identity +NM_001367624.2:c.2894A>G NP_001354553.1:p.Glu965Gly NC_000016.10:88430363:A:G p.(Glu965Gly) NC_000016.10:88430363:A:G p.(Glu965Gly) NC_000016.10:88430363:A:G Identity +NM_020433.5:c.1115G>A NP_065166.2:p.Gly372Asp NC_000020.11:44159671:C:T p.(Gly372Asp) NC_000020.11:44159671:C:T p.(Gly372Asp) NC_000020.11:44159671:C:T Identity +NM_000179.3:c.280G>T NP_000170.1:p.Asp94Tyr NC_000002.12:47790945:G:T p.(Asp94Tyr) NC_000002.12:47790945:G:T p.(Asp94Tyr) NC_000002.12:47790945:G:T Identity +NM_005732.4:c.2815A>G NP_005723.2:p.Ile939Val NC_000005.10:132608710:A:G p.(Ile939Val) NC_000005.10:132608710:A:G p.(Ile939Val) NC_000005.10:132608710:A:G Identity +NM_001349253.2:c.2908T>G NP_001336182.1:p.Ser970Ala NC_000003.12:38886165:A:C p.(Ser970Ala) NC_000003.12:38886165:A:C p.(Ser970Ala) NC_000003.12:38886165:A:C Identity +NM_001367624.2:c.11288C>G NP_001354553.1:p.Thr3763Ser NC_000016.10:88438757:C:G p.(Thr3763Ser) NC_000016.10:88438757:C:G p.(Thr3763Ser) NC_000016.10:88438757:C:G Identity +NM_001105206.3:c.2938A>G NP_001098676.2:p.Thr980Ala NC_000006.12:112140797:T:C p.(Thr980Ala) NC_000006.12:112140797:T:C p.(Thr980Ala) NC_000006.12:112140797:T:C Identity +NM_199420.4:c.28C>T NP_955452.3:p.Arg10Trp NC_000003.12:121545849:G:A p.(Arg10Trp) NC_000003.12:121545849:G:A p.(Arg10Trp) NC_000003.12:121545849:G:A Identity +NM_001321307.1:c.2912T>C NP_001308236.1:p.Met971Thr NC_000011.10:108169841:A:G p.(Met971Thr) NC_000011.10:108169841:A:G p.(Met971Thr) NC_000011.10:108169841:A:G Identity +NM_001166175.2:c.286G>A NP_001159647.1:p.Ala96Thr NC_000005.10:173234797:C:T p.(Ala96Thr) NC_000005.10:173234797:C:T p.(Ala96Thr) NC_000005.10:173234797:C:T Identity +NM_000051.4:c.2941C>A NP_000042.3:p.Arg981Ser NC_000011.10:108271269:C:A p.(Arg981Ser) NC_000011.10:108271269:C:A p.(Arg981Ser) NC_000011.10:108271269:C:A Identity +NM_002317.7:c.295_299dup NP_002308.2:p.Ala101fs NC_000005.10:122077686:GCGGTGCGGT:GCGGTGCGGTGCGGT p.(Ala101ProfsTer138) NC_000005.10:122077686:GCGGTGCGGT:GCGGTGCGGTGCGGT p.(Ala101ProfsTer138) ERR:SPDI Analogous +NM_198578.4:c.2869G>A NP_940980.4:p.Asp957Asn NC_000012.12:40294904:G:A p.(Asp957Asn) NC_000012.12:40294904:G:A p.(Asp957Asn) NC_000012.12:40294904:G:A Identity +NM_001321307.1:c.2880C>G NP_001308236.1:p.Asn960Lys NC_000011.10:108169948:G:C p.(Asn960Lys) NC_000011.10:108169948:G:C p.(Asn960Lys) NC_000011.10:108169948:G:C Identity +NM_002439.5:c.2906A>T NP_002430.3:p.Gln969Leu NC_000005.10:80854221:A:T p.(Gln969Leu) NC_000005.10:80854221:A:T p.(Gln969Leu) NC_000005.10:80854221:A:T Identity +NM_000388.4:c.2955C>G NP_000379.3:p.Asn985Lys NC_000003.12:122284908:C:G p.(Asn985Lys) NC_000003.12:122284908:C:G p.(Asn985Lys) NC_000003.12:122284908:C:G Identity +NM_020778.5:c.2366C>G NP_065829.4:p.Thr789Ser NC_000015.10:84857103:C:G p.(Thr789Ser) NC_000015.10:84857103:C:G p.(Thr789Ser) NC_000015.10:84857103:C:G Identity +LRG_130t3:c.2976dup LRG_130p3:p.Lys993Terfs NC_000005.10:112838569:T:TT ERR:Data provider error: ValueError: Transcript LRG_130t3 not found ERR:Data provider error: ValueError: Transcript LRG_130t3 not found ERR:AlignmentMapper(tx_ac=LRG_130t3, alt_ac=LRG_130t3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_130t3, alt_ac=LRG_130t3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_130t3 not found +NM_005751.5:c.2981G>A NP_005742.4:p.Cys994Tyr NC_000007.14:92002897:G:A p.(Cys994Tyr) NC_000007.14:92002897:G:A p.(Cys994Tyr) NC_000007.14:92002897:G:A Identity +NM_005751.5:c.2947T>G NP_005742.4:p.Leu983Val NC_000007.14:92002863:T:G p.(Leu983Val) NC_000007.14:92002863:T:G p.(Leu983Val) NC_000007.14:92002863:T:G Identity +NM_001081640.2:c.1120A>G NP_001075109.1:p.Lys374Glu NC_000008.11:47936510:T:C p.(Lys374Glu) NC_000008.11:47936510:T:C p.(Lys374Glu) NC_000008.11:47936510:T:C Identity +NM_001278616.2:c.2857T>C NP_001265545.1:p.Cys953Arg NC_000002.12:110641071:A:G p.(Cys953Arg) NC_000002.12:110641071:A:G p.(Cys953Arg) NC_000002.12:110641071:A:G Identity +NM_002432.3:c.291A>T NP_002423.1:p.Glu97Asp NC_000001.11:158843303:A:T p.(Glu97Asp) NC_000001.11:158843303:A:T p.(Glu97Asp) NC_000001.11:158843303:A:T Identity +NM_000179.3:c.2930_2936del NP_000170.1:p.Tyr977fs NC_000002.12:47800911:TACCAGCT:T p.(Tyr977TrpfsTer18) NC_000002.12:47800911:TACCAGCT:T p.(Tyr977TrpfsTer18) NC_000002.12:47800912:ACCAGCT: Analogous +NM_000051.4:c.3004G>A NP_000042.3:p.Gly1002Ser NC_000011.10:108271332:G:A p.(Gly1002Ser) NC_000011.10:108271332:G:A p.(Gly1002Ser) NC_000011.10:108271332:G:A Identity +NM_001195573.1:c.2882C>T NP_001182502.1:p.Pro961Leu NC_000014.9:95106145:G:A p.(Pro961Leu) NC_000014.9:95106145:G:A p.(Pro961Leu) NC_000014.9:95106145:G:A Identity +NM_017617.5:c.2890G>A NP_060087.3:p.Val964Met NC_000009.12:136509811:C:T p.(Val964Met) NC_000009.12:136509811:C:T p.(Val964Met) NC_000009.12:136509811:C:T Identity +NM_002876.4:c.28A>G NP_002867.1:p.Met10Val NC_000017.11:58692670:A:G p.(Met10Val) NC_000017.11:58692670:A:G p.(Met10Val) NC_000017.11:58692670:A:G Identity +NM_198578.4:c.2909A>C NP_940980.4:p.His970Pro NC_000012.12:40295456:A:C p.(His970Pro) NC_000012.12:40295456:A:C p.(His970Pro) NC_000012.12:40295456:A:C Identity +NM_000314.8:c.290A>G NP_000305.3:p.Gln97Arg NC_000010.11:87933048:A:G p.(Gln97Arg) NC_000010.11:87933048:A:G p.(Gln97Arg) NC_000010.11:87933048:A:G Identity +NM_001367624.2:c.2983C>T NP_001354553.1:p.Arg995Trp NC_000016.10:88430452:C:T p.(Arg995Trp) NC_000016.10:88430452:C:T p.(Arg995Trp) NC_000016.10:88430452:C:T Identity +NM_000057.4:c.299A>C NP_000048.1:p.Gln100Pro NC_000015.10:90749566:A:C p.(Gln100Pro) NC_000015.10:90749566:A:C p.(Gln100Pro) NC_000015.10:90749566:A:C Identity +NM_001321307.1:c.3001C>G NP_001308236.1:p.Pro1001Ala NC_000011.10:108169752:G:C p.(Pro1001Ala) NC_000011.10:108169752:G:C p.(Pro1001Ala) NC_000011.10:108169752:G:C Identity +NM_001211.6:c.3015T>G NP_001202.5:p.Asp1005Glu NC_000015.10:40220620:T:G p.(Asp1005Glu) NC_000015.10:40220620:T:G p.(Asp1005Glu) NC_000015.10:40220620:T:G Identity +NM_000077.5:c.304_305delinsTT NP_000068.1:p.Ala102Leu NC_000009.12:21971053:GC:AA p.(Ala102Leu) NC_000009.12:21971053:GC:AA p.(Ala102Leu) NC_000009.12:21971053:GC:AA Identity +NM_000179.3:c.2941A>T NP_000170.1:p.Ile981Phe NC_000002.12:47800923:A:T p.(Ile981Phe) NC_000002.12:47800923:A:T p.(Ile981Phe) NC_000002.12:47800923:A:T Identity +NM_001407296.1:c.2890C>T NP_001394225.1:p.Leu964Phe NC_000016.10:23623014:G:A p.(Leu964Phe) NC_000016.10:23623014:G:A p.(Leu964Phe) NC_000016.10:23623014:G:A Identity +NM_004304.5:c.2960G>C NP_004295.2:p.Cys987Ser NC_000002.12:29227028:C:G p.(Cys987Ser) NC_000002.12:29227028:C:G p.(Cys987Ser) NC_000002.12:29227028:C:G Identity +NM_001008844.3:c.2917G>C NP_001008844.1:p.Glu973Gln NC_000006.12:7577817:G:C p.(Glu973Gln) NC_000006.12:7577817:G:C p.(Glu973Gln) NC_000006.12:7577817:G:C Identity +NM_000090.4:c.2924G>C NP_000081.2:p.Gly975Ala NC_000002.12:189004356:G:C p.(Gly975Ala) NC_000002.12:189004356:G:C p.(Gly975Ala) NC_000002.12:189004356:G:C Identity +NM_001278616.2:c.2869C>G NP_001265545.1:p.Leu957Val NC_000002.12:110641059:G:C p.(Leu957Val) NC_000002.12:110641059:G:C p.(Leu957Val) NC_000002.12:110641059:G:C Identity +NM_014000.3:c.2929G>C NP_054706.1:p.Ala977Pro NC_000010.11:74112091:G:C p.(Ala977Pro) NC_000010.11:74112091:G:C p.(Ala977Pro) NC_000010.11:74112091:G:C Identity +NM_001276289.2:c.304G>C NP_001263218.1:p.Ala102Pro NC_000017.11:68522881:G:C p.(Ala102Pro) NC_000017.11:68522881:G:C p.(Ala102Pro) NC_000017.11:68522881:G:C Identity +NM_000057.4:c.3051A>C NP_000048.1:p.Glu1017Asp NC_000015.10:90794197:A:C p.(Glu1017Asp) NC_000015.10:90794197:A:C p.(Glu1017Asp) NC_000015.10:90794197:A:C Identity +NM_018975.4:c.305G>T NP_061848.2:p.Gly102Val NC_000016.10:75648186:G:T p.(Gly102Val) NC_000016.10:75648186:G:T p.(Gly102Val) NC_000016.10:75648186:G:T Identity +NM_001142800.2:c.7331T>A NP_001136272.1:p.Phe2444Tyr NC_000006.12:63806269:A:T p.(Phe2444Tyr) NC_000006.12:63806269:A:T p.(Phe2444Tyr) NC_000006.12:63806269:A:T Identity +NM_000256.3:c.3064C>A NP_000247.2:p.Arg1022Ser NC_000011.10:47333682:G:T p.(Arg1022Ser) NC_000011.10:47333682:G:T p.(Arg1022Ser) NC_000011.10:47333682:G:T Identity +NM_000722.4:c.3065C>T NP_000713.2:p.Ala1022Val NC_000007.14:81959730:G:A p.(Ala1022Val) NC_000007.14:81959730:G:A p.(Ala1022Val) NC_000007.14:81959730:G:A Identity +NM_000093.5:c.2987_2988dup NP_000084.3:p.Gly997fs NC_000009.12:134801982:CCCCCCC:CCCCCCCCC p.(Gly997ProfsTer78) NC_000009.12:134801982:CCCCCCC:CCCCCCCCC p.(Gly997ProfsTer78) ERR:SPDI Analogous +NM_001378454.1:c.2989A>G NP_001365383.1:p.Thr997Ala NC_000002.12:73449515:A:G p.(Thr997Ala) NC_000002.12:73449515:A:G p.(Thr997Ala) NC_000002.12:73449515:A:G Identity +NM_198578.4:c.2996C>A NP_940980.4:p.Ala999Asp NC_000012.12:40295543:C:A p.(Ala999Asp) NC_000012.12:40295543:C:A p.(Ala999Asp) NC_000012.12:40295543:C:A Identity +NM_001318360.2:c.32T>C NP_001305289.1:p.Leu11Pro NC_000009.12:108927382:A:G p.(Leu11Pro) NC_000009.12:108927382:A:G p.(Leu11Pro) NC_000009.12:108927382:A:G Identity +NM_002439.5:c.2948C>G NP_002430.3:p.Thr983Ser NC_000005.10:80854263:C:G p.(Thr983Ser) NC_000005.10:80854263:C:G p.(Thr983Ser) NC_000005.10:80854263:C:G Identity +NM_198834.3:c.6641C>A NP_942131.1:p.Pro2214His NC_000017.11:37097908:G:T p.(Pro2214His) NC_000017.11:37097908:G:T p.(Pro2214His) NC_000017.11:37097908:G:T Identity +NM_001364171.2:c.1613G>A NP_001351100.1:p.Arg538His NC_000019.10:48297486:C:T p.(Arg538His) NC_000019.10:48297486:C:T p.(Arg538His) NC_000019.10:48297486:C:T Identity +NM_001318360.2:c.1702G>A NP_001305289.1:p.Val568Met NC_000009.12:108900345:C:T p.(Val568Met) NC_000009.12:108900345:C:T p.(Val568Met) NC_000009.12:108900345:C:T Identity +NM_001330347.2:c.1474G>A NP_001317276.1:p.Ala492Thr NC_000011.10:94459433:C:T p.(Ala492Thr) NC_000011.10:94459433:C:T p.(Ala492Thr) NC_000011.10:94459433:C:T Identity +NM_001163817.2:c.1124C>G NP_001157289.1:p.Pro375Arg NC_000011.10:71435678:G:C p.(Pro375Arg) NC_000011.10:71435678:G:C p.(Pro375Arg) NC_000011.10:71435678:G:C Identity +NM_001345962.2:c.871T>G NP_001332891.1:p.Phe291Val NC_000004.12:83462500:A:C p.(Phe291Val) NC_000004.12:83462500:A:C p.(Phe291Val) NC_000004.12:83462500:A:C Identity +NM_018975.4:c.298C>T NP_061848.2:p.Arg100Trp NC_000016.10:75648179:C:T p.(Arg100Trp) NC_000016.10:75648179:C:T p.(Arg100Trp) NC_000016.10:75648179:C:T Identity +NM_001330347.2:c.70G>A NP_001317276.1:p.Gly24Arg NC_000011.10:94490915:C:T p.(Gly24Arg) NC_000011.10:94490915:C:T p.(Gly24Arg) NC_000011.10:94490915:C:T Identity +NM_003640.5:c.104T>C NP_003631.2:p.Ile35Thr NC_000009.12:108931042:A:G p.(Ile35Thr) NC_000009.12:108931042:A:G p.(Ile35Thr) NC_000009.12:108931042:A:G Identity +NM_000157.4:c.152G>T NP_000148.2:p.Ser51Ile NC_000001.11:155240040:C:A p.(Ser51Ile) NC_000001.11:155240040:C:A p.(Ser51Ile) NC_000001.11:155240040:C:A Identity +NM_001330347.2:c.1701C>G NP_001317276.1:p.Asn567Lys NC_000011.10:94447300:G:C p.(Asn567Lys) NC_000011.10:94447300:G:C p.(Asn567Lys) NC_000011.10:94447300:G:C Identity +NM_001330347.2:c.137T>C NP_001317276.1:p.Leu46Pro NC_000011.10:94490848:A:G p.(Leu46Pro) NC_000011.10:94490848:A:G p.(Leu46Pro) NC_000011.10:94490848:A:G Identity +NM_001330347.2:c.1714C>G NP_001317276.1:p.Arg572Gly NC_000011.10:94447287:G:C p.(Arg572Gly) NC_000011.10:94447287:G:C p.(Arg572Gly) NC_000011.10:94447287:G:C Identity +NM_017617.5:c.3010T>G NP_060087.3:p.Ser1004Ala NC_000009.12:136509030:A:C p.(Ser1004Ala) NC_000009.12:136509030:A:C p.(Ser1004Ala) NC_000009.12:136509030:A:C Identity +NM_000038.6:c.3019A>T NP_000029.2:p.Lys1007Ter NC_000005.10:112838612:A:T p.(Lys1007Ter) NC_000005.10:112838612:A:T p.(Lys1007Ter) NC_000005.10:112838612:A:T Identity +NM_000059.4:c.3023G>T NP_000050.3:p.Ser1008Ile NC_000013.11:32337377:G:T p.(Ser1008Ile) NC_000013.11:32337377:G:T p.(Ser1008Ile) NC_000013.11:32337377:G:T Identity +NM_001321307.1:c.3034G>A NP_001308236.1:p.Asp1012Asn NC_000011.10:108162156:C:T p.(Asp1012Asn) NC_000011.10:108162156:C:T p.(Asp1012Asn) NC_000011.10:108162156:C:T Identity +NM_000321.3:c.304T>C NP_000312.2:p.Cys102Arg NC_000013.11:48342637:T:C p.(Cys102Arg) NC_000013.11:48342637:T:C p.(Cys102Arg) NC_000013.11:48342637:T:C Identity +NM_001407274.1:c.304T>G NP_001394203.1:p.Ser102Ala NC_000003.12:14131585:T:G p.(Ser102Ala) NC_000003.12:14131585:T:G p.(Ser102Ala) NC_000003.12:14131585:T:G Identity +NM_001321732.2:c.529G>A NP_001308661.1:p.Val177Met NC_000005.10:177514728:C:T p.(Val177Met) NC_000005.10:177514728:C:T p.(Val177Met) NC_000005.10:177514728:C:T Identity +NM_021072.4:c.1036T>C NP_066550.2:p.Ser346Pro NC_000005.10:45396685:A:G p.(Ser346Pro) NC_000005.10:45396685:A:G p.(Ser346Pro) NC_000005.10:45396685:A:G Identity +NM_144628.4:c.406C>T NP_653229.1:p.Arg136Cys NC_000020.11:441974:G:A p.(Arg136Cys) NC_000020.11:441974:G:A p.(Arg136Cys) NC_000020.11:441974:G:A Identity +NM_032043.3:c.1206del NP_114432.2:p.Arg403fs NC_000017.11:61799233:A: p.(Arg403GlyfsTer8) NC_000017.11:61799233:A: p.(Arg403GlyfsTer8) NC_000017.11:61799233:A: Analogous +NM_001166133.2:c.2143C>T NP_001159605.1:p.His715Tyr NC_000004.12:78333276:C:T p.(His715Tyr) NC_000004.12:78333276:C:T p.(His715Tyr) NC_000004.12:78333276:C:T Identity +NM_024562.2:c.659T>C NP_078838.1:p.Phe220Ser NC_000016.10:68860447:T:C p.(Phe220Ser) NC_000016.10:68860447:T:C p.(Phe220Ser) NC_000016.10:68860447:T:C Identity +NM_000424.4:c.1408T>C NP_000415.2:p.Tyr470His NC_000012.12:52516667:A:G p.(Tyr470His) NC_000012.12:52516667:A:G p.(Tyr470His) NC_000012.12:52516667:A:G Identity +NM_001386500.1:c.7246del NP_001373429.1:p.Ala2416fs NC_000001.11:11114371:CC:C p.(Ala2416ProfsTer12) NC_000001.11:11114371:CC:C p.(Ala2416ProfsTer12) NC_000001.11:11114371:C: Analogous +NM_014727.3:c.4286T>C NP_055542.1:p.Leu1429Pro NC_000019.10:35727605:T:C p.(Leu1429Pro) NC_000019.10:35727605:T:C p.(Leu1429Pro) NC_000019.10:35727605:T:C Identity +NM_005120.3:c.5917T>C NP_005111.2:p.Tyr1973His NC_000023.11:71137815:T:C p.(Tyr1973His) NC_000023.11:71137815:T:C p.(Tyr1973His) NC_000023.11:71137815:T:C Identity +NM_000492.4:c.3035A>G NP_000483.3:p.Gln1012Arg NC_000007.14:117610564:A:G p.(Gln1012Arg) NC_000007.14:117610564:A:G p.(Gln1012Arg) NC_000007.14:117610564:A:G Identity +NM_005732.4:c.3039A>G NP_005723.2:p.Ile1013Met NC_000005.10:132616004:A:G p.(Ile1013Met) NC_000005.10:132616004:A:G p.(Ile1013Met) NC_000005.10:132616004:A:G Identity +NM_001290307.3:c.1126A>T NP_001277236.1:p.Arg376Trp NC_000005.10:138886274:A:T p.(Arg376Trp) NC_000005.10:138886274:A:T p.(Arg376Trp) NC_000005.10:138886274:A:T Identity +NM_000323.2:c.3043T>G NP_000314.1:p.Tyr1015Asp NC_000010.11:43126577:T:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001379245.1:c.1092T>A NP_001366174.1:p.Asp364Glu NC_000013.11:35056128:T:A p.(Asp364Glu) NC_000013.11:35056128:T:A p.(Asp364Glu) NC_000013.11:35056128:T:A Identity +NM_000458.4:c.221T>G NP_000449.1:p.Leu74Trp NC_000017.11:37744663:A:C p.(Leu74Trp) NC_000017.11:37744663:A:C p.(Leu74Trp) NC_000017.11:37744663:A:C Identity +NM_002354.3:c.305G>A NP_002345.2:p.Ser102Asn NC_000002.12:47373927:G:A p.(Ser102Asn) NC_000002.12:47373927:G:A p.(Ser102Asn) NC_000002.12:47373927:G:A Identity +NM_003803.4:c.3062C>T NP_003794.3:p.Ala1021Val NC_000018.10:3119924:G:A p.(Ala1021Val) NC_000018.10:3119924:G:A p.(Ala1021Val) NC_000018.10:3119924:G:A Identity +NM_001330347.2:c.983T>C NP_001317276.1:p.Val328Ala NC_000011.10:94470504:A:G p.(Val328Ala) NC_000011.10:94470504:A:G p.(Val328Ala) NC_000011.10:94470504:A:G Identity +NM_001042681.2:c.902C>T NP_001036146.1:p.Pro301Leu NC_000001.11:8497506:G:A p.(Pro301Leu) NC_000001.11:8497506:G:A p.(Pro301Leu) NC_000001.11:8497506:G:A Identity +NM_001131010.4:c.1946C>T NP_001124482.1:p.Thr649Ile NC_000003.12:18349515:G:A p.(Thr649Ile) NC_000003.12:18349515:G:A p.(Thr649Ile) NC_000003.12:18349515:G:A Identity +NM_001135943.2:c.3458G>A NP_001129415.1:p.Arg1153Gln NC_000011.10:47295999:G:A p.(Arg1153Gln) NC_000011.10:47295999:G:A p.(Arg1153Gln) NC_000011.10:47295999:G:A Identity +NM_001256182.2:c.6465del NP_001243111.1:p.Val2156fs NC_000016.10:89280076:GGG:GG p.(Val2156TrpfsTer19) NC_000016.10:89280076:GGG:GG p.(Val2156TrpfsTer19) NC_000016.10:89280076:G: Analogous +NM_003680.4:c.778G>C NP_003671.1:p.Val260Leu NC_000001.11:32786981:C:G p.(Val260Leu) NC_000001.11:32786981:C:G p.(Val260Leu) NC_000001.11:32786981:C:G Identity +NM_001345962.2:c.229T>C NP_001332891.1:p.Cys77Arg NC_000004.12:83469071:A:G p.(Cys77Arg) NC_000004.12:83469071:A:G p.(Cys77Arg) NC_000004.12:83469071:A:G Identity +NM_001318360.2:c.1504G>A NP_001305289.1:p.Gly502Arg NC_000009.12:108902846:C:T p.(Gly502Arg) NC_000009.12:108902846:C:T p.(Gly502Arg) NC_000009.12:108902846:C:T Identity +NM_001330347.2:c.1960A>T NP_001317276.1:p.Ile654Phe NC_000011.10:94435862:T:A p.(Ile654Phe) NC_000011.10:94435862:T:A p.(Ile654Phe) NC_000011.10:94435862:T:A Identity +NM_001345962.2:c.86G>A NP_001332891.1:p.Ser29Asn NC_000004.12:83470265:C:T p.(Ser29Asn) NC_000004.12:83470265:C:T p.(Ser29Asn) NC_000004.12:83470265:C:T Identity +NM_001345962.2:c.560C>T NP_001332891.1:p.Ser187Leu NC_000004.12:83462811:G:A p.(Ser187Leu) NC_000004.12:83462811:G:A p.(Ser187Leu) NC_000004.12:83462811:G:A Identity +NM_001345962.2:c.27C>G NP_001332891.1:p.His9Gln NC_000004.12:83470324:G:C p.(His9Gln) NC_000004.12:83470324:G:C p.(His9Gln) NC_000004.12:83470324:G:C Identity +NM_006612.6:c.2737C>T NP_006603.2:p.Pro913Ser NC_000017.11:5023575:C:T p.(Pro913Ser) NC_000017.11:5023575:C:T p.(Pro913Ser) NC_000017.11:5023575:C:T Identity +NM_001324191.2:c.463G>A NP_001311120.1:p.Val155Met NC_000020.11:3912557:G:A p.(Val155Met) NC_000020.11:3912557:G:A p.(Val155Met) NC_000020.11:3912557:G:A Identity +NM_001136035.4:c.640C>T NP_001129507.1:p.Arg214Trp NC_000019.10:13115279:G:A p.(Arg214Trp) NC_000019.10:13115279:G:A p.(Arg214Trp) NC_000019.10:13115279:G:A Identity +NM_004990.4:c.308T>C NP_004981.2:p.Leu103Ser NC_000012.12:57489451:T:C p.(Leu103Ser) NC_000012.12:57489451:T:C p.(Leu103Ser) NC_000012.12:57489451:T:C Identity +NM_001034850.3:c.1380G>T NP_001030022.1:p.Gln460His NC_000005.10:16474854:C:A p.(Gln460His) NC_000005.10:16474854:C:A p.(Gln460His) NC_000005.10:16474854:C:A Identity +NM_001345962.2:c.289G>C NP_001332891.1:p.Asp97His NC_000004.12:83467518:C:G p.(Asp97His) NC_000004.12:83467518:C:G p.(Asp97His) NC_000004.12:83467518:C:G Identity +NM_001034850.3:c.355C>G NP_001030022.1:p.Leu119Val NC_000005.10:16572067:G:C p.(Leu119Val) NC_000005.10:16572067:G:C p.(Leu119Val) NC_000005.10:16572067:G:C Identity +NM_170606.3:c.6754C>G NP_733751.2:p.Gln2252Glu NC_000007.14:152181105:G:C p.(Gln2252Glu) NC_000007.14:152181105:G:C p.(Gln2252Glu) NC_000007.14:152181105:G:C Identity +NM_001254718.3:c.718C>G NP_001241647.1:p.Arg240Gly NC_000012.12:101642545:C:G p.(Arg240Gly) NC_000012.12:101642545:C:G p.(Arg240Gly) NC_000012.12:101642545:C:G Identity +NM_030624.3:c.91C>T NP_085127.2:p.Leu31Phe NC_000023.11:24006602:G:A p.(Leu31Phe) NC_000023.11:24006602:G:A p.(Leu31Phe) NC_000023.11:24006602:G:A Identity +NM_000806.5:c.785_786dup NP_000797.2:p.Met263Ter NC_000005.10:161890977:ATA:ATATA p.(Met263Ter) NC_000005.10:161890977:ATA:ATATA p.(Met263Ter) ERR:SPDI Identity +NM_000051.4:c.270del NP_000042.3:p.Arg90fs NC_000011.10:108229260:GG:G p.(Arg90SerfsTer26) NC_000011.10:108229260:GG:G p.(Arg90SerfsTer26) NC_000011.10:108229261:G: Analogous +NM_001386500.1:c.2498T>C NP_001373429.1:p.Leu833Ser NC_000001.11:11232451:A:G p.(Leu833Ser) NC_000001.11:11232451:A:G p.(Leu833Ser) NC_000001.11:11232451:A:G Identity +NM_007118.4:c.2965G>A NP_009049.2:p.Ala989Thr NC_000005.10:14368797:G:A p.(Ala989Thr) NC_000005.10:14368797:G:A p.(Ala989Thr) NC_000005.10:14368797:G:A Identity +NM_001291726.2:c.743dup NP_001278655.1:p.Ser249fs NC_000017.11:39673053:AAAAA:AAAAAA p.(Ser249GlnfsTer6) NC_000017.11:39673053:AAAAA:AAAAAA p.(Ser249GlnfsTer6) ERR:SPDI Analogous +NM_001177984.3:c.2934C>A NP_001171455.1:p.Ser978Arg NC_000012.12:51768896:C:A p.(Ser978Arg) NC_000012.12:51768896:C:A p.(Ser978Arg) NC_000012.12:51768896:C:A Identity +NM_000133.4:c.505T>C NP_000124.1:p.Ser169Pro NC_000023.11:139548475:T:C p.(Ser169Pro) NC_000023.11:139548475:T:C p.(Ser169Pro) NC_000023.11:139548475:T:C Identity +NM_001330347.2:c.1028T>C NP_001317276.1:p.Met343Thr NC_000011.10:94467882:A:G p.(Met343Thr) NC_000011.10:94467882:A:G p.(Met343Thr) NC_000011.10:94467882:A:G Identity +NM_001330347.2:c.1995G>T NP_001317276.1:p.Trp665Cys NC_000011.10:94429982:C:A p.(Trp665Cys) NC_000011.10:94429982:C:A p.(Trp665Cys) NC_000011.10:94429982:C:A Identity +NM_001330347.2:c.1828G>C NP_001317276.1:p.Ala610Pro NC_000011.10:94445845:C:G p.(Ala610Pro) NC_000011.10:94445845:C:G p.(Ala610Pro) NC_000011.10:94445845:C:G Identity +NM_004990.4:c.875A>G NP_004981.2:p.Asp292Gly NC_000012.12:57498260:A:G p.(Asp292Gly) NC_000012.12:57498260:A:G p.(Asp292Gly) NC_000012.12:57498260:A:G Identity +NM_001301035.2:c.416T>C NP_001287964.1:p.Leu139Pro NC_000019.10:42249470:A:G p.(Leu139Pro) NC_000019.10:42249470:A:G p.(Leu139Pro) NC_000019.10:42249470:A:G Identity +NM_001024218.2:c.986C>A NP_001019389.1:p.Ala329Asp NC_000014.9:67058726:C:A p.(Ala329Asp) NC_000014.9:67058726:C:A p.(Ala329Asp) NC_000014.9:67058726:C:A Identity +NM_003373.4:c.2773C>T NP_003364.1:p.Arg925Cys NC_000010.11:74114210:C:T p.(Arg925Cys) NC_000010.11:74114210:C:T p.(Arg925Cys) NC_000010.11:74114210:C:T Identity +NM_002354.3:c.373A>T NP_002345.2:p.Arg125Ter NC_000002.12:47373995:A:T p.(Arg125Ter) NC_000002.12:47373995:A:T p.(Arg125Ter) NC_000002.12:47373995:A:T Identity +NM_000162.5:c.1123T>A NP_000153.1:p.Ser375Thr NC_000007.14:44145626:A:T p.(Ser375Thr) NC_000007.14:44145626:A:T p.(Ser375Thr) NC_000007.14:44145626:A:T Identity +NM_000959.4:c.449A>T NP_000950.1:p.Lys150Ile NC_000001.11:78493191:A:T p.(Lys150Ile) NC_000001.11:78493191:A:T p.(Lys150Ile) NC_000001.11:78493191:A:T Identity +NM_001377960.1:c.486G>T NP_001364889.1:p.Leu162Phe NC_000008.11:93735924:C:A p.(Leu162Phe) NC_000008.11:93735924:C:A p.(Leu162Phe) NC_000008.11:93735924:C:A Identity +NM_001005463.3:c.320G>T NP_001005463.1:p.Gly107Val NC_000010.11:129962976:C:A p.(Gly107Val) NC_000010.11:129962976:C:A p.(Gly107Val) NC_000010.11:129962976:C:A Identity +NM_006593.4:c.1556C>T NP_006584.1:p.Ala519Val NC_000002.12:161423733:C:T p.(Ala519Val) NC_000002.12:161423733:C:T p.(Ala519Val) NC_000002.12:161423733:C:T Identity +NM_001288653.2:c.3281G>A NP_001275582.1:p.Gly1094Glu NC_000017.11:59681665:G:A p.(Gly1094Glu) NC_000017.11:59681665:G:A p.(Gly1094Glu) NC_000017.11:59681665:G:A Identity +NM_001303256.3:c.1517G>A NP_001290185.1:p.Arg506Lys NC_000022.11:30937018:C:T p.(Arg506Lys) NC_000022.11:30937018:C:T p.(Arg506Lys) NC_000022.11:30937018:C:T Identity +NM_001329939.2:c.1177G>A NP_001316868.1:p.Gly393Arg NC_000014.9:75959248:C:T p.(Gly393Arg) NC_000014.9:75959248:C:T p.(Gly393Arg) NC_000014.9:75959248:C:T Identity +NM_001256850.1:c.37220C>T NP_001243779.1:p.Thr12407Ile NC_000002.12:178634730:G:A p.(Thr12407Ile) NC_000002.12:178634730:G:A p.(Thr12407Ile) NC_000002.12:178634730:G:A Identity +NM_001098268.2:c.2212_2213delinsAT NP_001091738.1:p.Trp738Met NC_000013.11:108209055:CA:AT p.(Trp738Met) NC_000013.11:108209055:CA:AT p.(Trp738Met) NC_000013.11:108209055:CA:AT Identity +NM_001393769.1:c.4328G>A NP_001380698.1:p.Arg1443His NC_000003.12:151378022:G:A p.(Arg1443His) NC_000003.12:151378022:G:A p.(Arg1443His) NC_000003.12:151378022:G:A Identity +NM_001001331.4:c.2797A>T NP_001001331.1:p.Thr933Ser NC_000003.12:10342871:T:A p.(Thr933Ser) NC_000003.12:10342871:T:A p.(Thr933Ser) NC_000003.12:10342871:T:A Identity +NM_000489.6:c.6733A>C NP_000480.3:p.Lys2245Gln NC_000023.11:77523367:T:G p.(Lys2245Gln) NC_000023.11:77523367:T:G p.(Lys2245Gln) NC_000023.11:77523367:T:G Identity +NM_001278731.2:c.1268A>G NP_001265660.1:p.Lys423Arg NC_000005.10:140697959:A:G p.(Lys423Arg) NC_000005.10:140697959:A:G p.(Lys423Arg) NC_000005.10:140697959:A:G Identity +NM_001256012.3:c.1363G>T NP_001242941.1:p.Asp455Tyr NC_000017.11:8545515:C:A p.(Asp455Tyr) NC_000017.11:8545515:C:A p.(Asp455Tyr) NC_000017.11:8545515:C:A Identity +NM_001128228.3:c.827C>T NP_001121700.2:p.Pro276Leu NC_000009.12:137199884:G:A p.(Pro276Leu) NC_000009.12:137199884:G:A p.(Pro276Leu) NC_000009.12:137199884:G:A Identity +NM_001020658.2:c.1759G>A NP_001018494.1:p.Val587Ile NC_000001.11:30967196:C:T p.(Val587Ile) NC_000001.11:30967196:C:T p.(Val587Ile) NC_000001.11:30967196:C:T Identity +NM_015114.3:c.1625dup NP_055929.1:p.Pro543fs NC_000012.12:132735480:GG:GGG p.(Pro543ThrfsTer21) NC_000012.12:132735480:GG:GGG p.(Pro543ThrfsTer21) ERR:SPDI Analogous +NM_021072.4:c.475A>T NP_066550.2:p.Ile159Phe NC_000005.10:45645558:T:A p.(Ile159Phe) NC_000005.10:45645558:T:A p.(Ile159Phe) NC_000005.10:45645558:T:A Identity +NM_001371271.1:c.2620G>C NP_001358200.1:p.Gly874Arg NC_000002.12:120988533:G:C p.(Gly874Arg) NC_000002.12:120988533:G:C p.(Gly874Arg) NC_000002.12:120988533:G:C Identity +NM_003482.4:c.15976C>T NP_003473.3:p.Leu5326Phe NC_000012.12:49024653:G:A p.(Leu5326Phe) NC_000012.12:49024653:G:A p.(Leu5326Phe) NC_000012.12:49024653:G:A Identity +NM_001368395.3:c.548C>G NP_001355324.1:p.Ser183Trp NC_000023.11:12674876:C:G p.(Ser183Trp) NC_000023.11:12674876:C:G p.(Ser183Trp) NC_000023.11:12674876:C:G Identity +NM_001718.6:c.283C>T NP_001709.1:p.Pro95Ser NC_000006.12:7727237:C:T p.(Pro95Ser) NC_000006.12:7727237:C:T p.(Pro95Ser) NC_000006.12:7727237:C:T Identity +NM_000059.4:c.6656C>A NP_000050.3:p.Ser2219Ter NC_000013.11:32341010:C:A p.(Ser2219Ter) NC_000013.11:32341010:C:A p.(Ser2219Ter) NC_000013.11:32341010:C:A Identity +NM_002354.3:c.37del NP_002345.2:p.Ala14fs NC_000002.12:47369541:C: p.(Ala14ProfsTer23) NC_000002.12:47369541:C: p.(Ala14ProfsTer23) NC_000002.12:47369541:C: Analogous +NM_005015.5:c.961T>G NP_005006.4:p.Ser321Ala NC_000014.9:22771038:T:G p.(Ser321Ala) NC_000014.9:22771038:T:G p.(Ser321Ala) NC_000014.9:22771038:T:G Identity +NM_001005273.3:c.20_21del NP_001005273.1:p.Val7fs NC_000017.11:7889017:TGTG:TG p.(Val7AspfsTer7) NC_000017.11:7889017:TGTG:TG p.(Val7AspfsTer7) NC_000017.11:7889019:TG: Analogous +NM_001039885.3:c.587G>A NP_001034974.1:p.Gly196Glu NC_000019.10:46756036:G:A p.(Gly196Glu) NC_000019.10:46756036:G:A p.(Gly196Glu) NC_000019.10:46756036:G:A Identity +NM_005157.6:c.1506C>G NP_005148.2:p.Ile502Met NC_000009.12:130880149:C:G p.(Ile502Met) NC_000009.12:130880149:C:G p.(Ile502Met) NC_000009.12:130880149:C:G Identity +NM_020928.2:c.707C>G NP_065979.1:p.Pro236Arg NC_000005.10:61472710:C:G p.(Pro236Arg) NC_000005.10:61472710:C:G p.(Pro236Arg) NC_000005.10:61472710:C:G Identity +NM_006593.4:c.1250C>A NP_006584.1:p.Ser417Ter NC_000002.12:161423427:C:A p.(Ser417Ter) NC_000002.12:161423427:C:A p.(Ser417Ter) NC_000002.12:161423427:C:A Identity +NM_001354640.2:c.1331dup NP_001341569.1:p.Leu444fs NC_000014.9:23101889:AA:AAA p.(Leu444PhefsTer51) NC_000014.9:23101889:AA:AAA p.(Leu444PhefsTer51) ERR:SPDI Analogous +NM_001353345.2:c.3595del NP_001340274.1:p.Glu1199fs NC_000012.12:121819578:GG:G p.(Glu1199LysfsTer76) NC_000012.12:121819578:GG:G p.(Glu1199LysfsTer76) NC_000012.12:121819579:G: Analogous +NM_001029882.3:c.4508C>T NP_001025053.1:p.Pro1503Leu NC_000001.11:27547607:G:A p.(Pro1503Leu) NC_000001.11:27547607:G:A p.(Pro1503Leu) NC_000001.11:27547607:G:A Identity +NM_000492.4:c.1291A>G NP_000483.3:p.Ser431Gly NC_000007.14:117548721:A:G p.(Ser431Gly) NC_000007.14:117548721:A:G p.(Ser431Gly) NC_000007.14:117548721:A:G Identity +NM_000170.3:c.2297G>A NP_000161.2:p.Gly766Asp NC_000009.12:6554686:C:T p.(Gly766Asp) NC_000009.12:6554686:C:T p.(Gly766Asp) NC_000009.12:6554686:C:T Identity +NM_001172435.2:c.72_73del NP_001165906.1:p.Arg25fs NC_000002.12:135052481:AAA:A p.(Arg25ValfsTer6) NC_000002.12:135052481:AAA:A p.(Arg25ValfsTer6) NC_000002.12:135052482:AA: Analogous +NM_001139490.1:c.118A>G NP_001132962.1:p.Thr40Ala NC_000002.12:238320779:A:G p.(Thr40Ala) NC_000002.12:238320779:A:G p.(Thr40Ala) NC_000002.12:238320779:A:G Identity +NM_000296.4:c.3981C>G NP_000287.4:p.Asp1327Glu NC_000016.10:2111185:G:C p.(Asp1327Glu) NC_000016.10:2111185:G:C p.(Asp1327Glu) NC_000016.10:2111185:G:C Identity +NM_001394998.1:c.569A>G NP_001381927.1:p.Gln190Arg NC_000017.11:63194125:A:G p.(Gln190Arg) NC_000017.11:63194125:A:G p.(Gln190Arg) NC_000017.11:63194125:A:G Identity +NM_015160.3:c.160C>T NP_055975.1:p.Pro54Ser NC_000009.12:136412084:C:T p.(Pro54Ser) NC_000009.12:136412084:C:T p.(Pro54Ser) NC_000009.12:136412084:C:T Identity +NM_000276.4:c.1210C>T NP_000267.2:p.Gln404Ter NC_000023.11:129562751:C:T p.(Gln404Ter) NC_000023.11:129562751:C:T p.(Gln404Ter) NC_000023.11:129562751:C:T Identity +NM_001363729.2:c.808G>A NP_001350658.1:p.Glu270Lys NC_000020.11:36919407:C:T p.(Glu270Lys) NC_000020.11:36919407:C:T p.(Glu270Lys) NC_000020.11:36919407:C:T Identity +NM_001034853.2:c.2336_2345dup NP_001030025.1:p.Glu784fs NC_000023.11:38286653:CCCGCTCTTTCC:CCCGCTCTTTCCCGCTCTTTCC p.(Glu784SerfsTer54) NC_000023.11:38286653:CCCGCTCTTTCC:CCCGCTCTTTCCCGCTCTTTCC p.(Glu784SerfsTer54) ERR:SPDI Analogous +NM_001272003.2:c.108del NP_001258932.1:p.Arg37fs NC_000009.12:135702361:CCCCC:CCCC p.(Arg37GlyfsTer29) NC_000009.12:135702361:CCCCC:CCCC p.(Arg37GlyfsTer29) NC_000009.12:135702365:C: Analogous +NM_000828.5:c.1261G>C NP_000819.4:p.Glu421Gln NC_000023.11:123403486:G:C p.(Glu421Gln) NC_000023.11:123403486:G:C p.(Glu421Gln) NC_000023.11:123403486:G:C Identity +NM_001278192.2:c.1153T>C NP_001265121.1:p.Tyr385His NC_000011.10:62630462:A:G p.(Tyr385His) NC_000011.10:62630462:A:G p.(Tyr385His) NC_000011.10:62630462:A:G Identity +NM_003079.5:c.683_685delinsT NP_003070.3:p.Lys228fs NC_000017.11:40632223:GTT:A p.(Lys228MetfsTer16) NC_000017.11:40632223:GTT:A p.(Lys228MetfsTer16) NC_000017.11:40632223:GTT:A Analogous +NM_001282599.2:c.11G>A NP_001269528.1:p.Trp4Ter NC_000002.12:80313571:G:A p.(Trp4Ter) NC_000002.12:80313571:G:A p.(Trp4Ter) NC_000002.12:80313571:G:A Identity +NM_000296.4:c.2139C>A NP_000287.4:p.Asp713Glu NC_000016.10:2114883:G:T p.(Asp713Glu) NC_000016.10:2114883:G:T p.(Asp713Glu) NC_000016.10:2114883:G:T Identity +NM_031407.7:c.120G>C NP_113584.3:p.Gln40His NC_000023.11:53648235:C:G p.(Gln40His) NC_000023.11:53648235:C:G p.(Gln40His) NC_000023.11:53648235:C:G Identity +NM_001365819.1:c.2951T>C NP_001352748.1:p.Leu984Pro NC_000022.11:50461177:A:G p.(Leu984Pro) NC_000022.11:50461177:A:G p.(Leu984Pro) NC_000022.11:50461177:A:G Identity +NM_001284301.3:c.3047G>A NP_001271230.1:p.Arg1016His NC_000007.14:36449743:G:A p.(Arg1016His) NC_000007.14:36449743:G:A p.(Arg1016His) NC_000007.14:36449743:G:A Identity +NM_000051.4:c.4385C>T NP_000042.3:p.Ala1462Val NC_000011.10:108289749:C:T p.(Ala1462Val) NC_000011.10:108289749:C:T p.(Ala1462Val) NC_000011.10:108289749:C:T Identity +NM_000059.4:c.6830T>C NP_000050.3:p.Leu2277Pro NC_000013.11:32341184:T:C p.(Leu2277Pro) NC_000013.11:32341184:T:C p.(Leu2277Pro) NC_000013.11:32341184:T:C Identity +NM_000719.7:c.770T>C NP_000710.5:p.Val257Ala NC_000012.12:2486115:T:C p.(Val257Ala) NC_000012.12:2486115:T:C p.(Val257Ala) NC_000012.12:2486115:T:C Identity +NM_001270974.2:c.8185G>A NP_001257903.1:p.Gly2729Arg NC_000016.10:70908680:C:T p.(Gly2729Arg) NC_000016.10:70908680:C:T p.(Gly2729Arg) NC_000016.10:70908680:C:T Identity +NM_001130847.4:c.402C>A NP_001124319.1:p.Phe134Leu NC_000023.11:130147823:G:T p.(Phe134Leu) NC_000023.11:130147823:G:T p.(Phe134Leu) NC_000023.11:130147823:G:T Identity +NM_001193307.2:c.3170C>T NP_001180236.1:p.Ala1057Val NC_000007.14:93102927:G:A p.(Ala1057Val) NC_000007.14:93102927:G:A p.(Ala1057Val) NC_000007.14:93102927:G:A Identity +NM_000520.6:c.104A>C NP_000511.2:p.Gln35Pro NC_000015.10:72375868:T:G p.(Gln35Pro) NC_000015.10:72375868:T:G p.(Gln35Pro) NC_000015.10:72375868:T:G Identity +NM_173630.4:c.602C>T NP_775901.3:p.Thr201Ile NC_000018.10:70197714:G:A p.(Thr201Ile) NC_000018.10:70197714:G:A p.(Thr201Ile) NC_000018.10:70197714:G:A Identity +NM_005215.4:c.4210G>A NP_005206.2:p.Glu1404Lys NC_000018.10:53526714:G:A p.(Glu1404Lys) NC_000018.10:53526714:G:A p.(Glu1404Lys) NC_000018.10:53526714:G:A Identity +NM_001386500.1:c.1060T>A NP_001373429.1:p.Ser354Thr NC_000001.11:11247874:A:T p.(Ser354Thr) NC_000001.11:11247874:A:T p.(Ser354Thr) NC_000001.11:11247874:A:T Identity +NM_015335.5:c.1072A>G NP_056150.1:p.Thr358Ala NC_000012.12:116015211:T:C p.(Thr358Ala) NC_000012.12:116015211:T:C p.(Thr358Ala) NC_000012.12:116015211:T:C Identity +NM_001129820.2:c.2637del NP_001123292.1:p.Ser880fs NC_000017.11:35548340:AA:A p.(Ser880ValfsTer39) NC_000017.11:35548340:AA:A p.(Ser880ValfsTer39) NC_000017.11:35548340:A: Analogous +NM_001330069.2:c.208G>C NP_001316998.1:p.Gly70Arg NC_000014.9:29927304:C:G p.(Gly70Arg) NC_000014.9:29927304:C:G p.(Gly70Arg) NC_000014.9:29927304:C:G Identity +NM_001145026.2:c.5596C>G NP_001138498.1:p.Pro1866Ala NC_000012.12:80620359:C:G p.(Pro1866Ala) NC_000012.12:80620359:C:G p.(Pro1866Ala) NC_000012.12:80620359:C:G Identity +NM_001376.5:c.986T>C NP_001367.2:p.Val329Ala NC_000014.9:101983042:T:C p.(Val329Ala) NC_000014.9:101983042:T:C p.(Val329Ala) NC_000014.9:101983042:T:C Identity +NM_017617.5:c.5372C>G NP_060087.3:p.Ser1791Cys NC_000009.12:136502283:G:C p.(Ser1791Cys) NC_000009.12:136502283:G:C p.(Ser1791Cys) NC_000009.12:136502283:G:C Identity +NM_001365684.2:c.964C>G NP_001352613.2:p.Leu322Val NC_000005.10:177210235:C:G p.(Leu322Val) NC_000005.10:177210235:C:G p.(Leu322Val) NC_000005.10:177210235:C:G Identity +NM_000138.5:c.2629_2645dup NP_000129.3:p.Trp883fs NC_000015.10:48495154:GCAGCACCGAGGGAGGAGCAGCAC:GCAGCACCGAGGGAGGAGCAGCACCGAGGGAGGAGCAGCAC p.(Trp883ProfsTer35) NC_000015.10:48495154:GCAGCACCGAGGGAGGAGCAGCAC:GCAGCACCGAGGGAGGAGCAGCACCGAGGGAGGAGCAGCAC p.(Trp883ProfsTer35) ERR:SPDI Analogous +NM_001371395.1:c.2002G>A NP_001358324.1:p.Gly668Ser NC_000004.12:119271861:G:A p.(Gly668Ser) NC_000004.12:119271861:G:A p.(Gly668Ser) NC_000004.12:119271861:G:A Identity +NM_006766.5:c.3399_3400dup NP_006757.2:p.Lys1134fs NC_000008.11:41934819:TC:TCTC p.(Lys1134ArgfsTer14) NC_000008.11:41934819:TC:TCTC p.(Lys1134ArgfsTer14) ERR:SPDI Analogous +NM_001077186.2:c.2834T>C NP_001070654.1:p.Leu945Pro NC_000019.10:50268266:T:C p.(Leu945Pro) NC_000019.10:50268266:T:C p.(Leu945Pro) NC_000019.10:50268266:T:C Identity +NM_005912.3:c.895C>T NP_005903.2:p.Pro299Ser NC_000018.10:60371454:G:A p.(Pro299Ser) NC_000018.10:60371454:G:A p.(Pro299Ser) NC_000018.10:60371454:G:A Identity +NM_001348729.2:c.563A>G NP_001335658.1:p.Lys188Arg NC_000002.12:8806313:T:C p.(Lys188Arg) NC_000002.12:8806313:T:C p.(Lys188Arg) NC_000002.12:8806313:T:C Identity +NM_001040108.2:c.1732C>G NP_001035197.1:p.Gln578Glu NC_000014.9:75047923:G:C p.(Gln578Glu) NC_000014.9:75047923:G:C p.(Gln578Glu) NC_000014.9:75047923:G:C Identity +NM_018975.4:c.398G>A NP_061848.2:p.Arg133Gln NC_000016.10:75648279:G:A p.(Arg133Gln) NC_000016.10:75648279:G:A p.(Arg133Gln) NC_000016.10:75648279:G:A Identity +NM_001040142.2:c.183_184insA NP_001035232.1:p.Leu62fs NC_000002.12:165296006::A p.(Leu62ThrfsTer27) NC_000002.12:165296005:T:A p.(Leu62ThrfsTer27) NC_000002.12:165296006:TC:A Analogous +NM_001100112.2:c.2176C>T NP_001093582.1:p.Gln726Ter NC_000017.11:10535076:G:A p.(Gln726Ter) NC_000017.11:10535076:G:A p.(Gln726Ter) NC_000017.11:10535076:G:A Identity +NM_000110.4:c.976T>C NP_000101.2:p.Ser326Pro NC_000001.11:97593369:A:G p.(Ser326Pro) NC_000001.11:97593369:A:G p.(Ser326Pro) NC_000001.11:97593369:A:G Identity +NM_001005407.2:c.3536C>G NP_001005407.1:p.Ala1179Gly NC_000016.10:1209203:C:G p.(Ala1179Gly) NC_000016.10:1209203:C:G p.(Ala1179Gly) NC_000016.10:1209203:C:G Identity +NM_002471.4:c.3623A>G NP_002462.2:p.Gln1208Arg NC_000014.9:23390165:T:C p.(Gln1208Arg) NC_000014.9:23390165:T:C p.(Gln1208Arg) NC_000014.9:23390165:T:C Identity +NM_001330384.2:c.706A>G NP_001317313.1:p.Thr236Ala NC_000019.10:15265496:T:C p.(Thr236Ala) NC_000019.10:15265496:T:C p.(Thr236Ala) NC_000019.10:15265496:T:C Identity +NM_030632.3:c.1090A>G NP_085135.1:p.Met364Val NC_000018.10:33738493:A:G p.(Met364Val) NC_000018.10:33738493:A:G p.(Met364Val) NC_000018.10:33738493:A:G Identity +NM_002496.4:c.325G>A NP_002487.1:p.Glu109Lys NC_000011.10:68033235:G:A p.(Glu109Lys) NC_000011.10:68033235:G:A p.(Glu109Lys) NC_000011.10:68033235:G:A Identity +NM_003718.5:c.3686C>T NP_003709.3:p.Ser1229Leu NC_000007.14:40093234:C:T p.(Ser1229Leu) NC_000007.14:40093234:C:T p.(Ser1229Leu) NC_000007.14:40093234:C:T Identity +NM_006767.4:c.1667G>A NP_006758.2:p.Ser556Asn NC_000022.11:20994608:G:A p.(Ser556Asn) NC_000022.11:20994608:G:A p.(Ser556Asn) NC_000022.11:20994608:G:A Identity +NM_001199981.2:c.134C>A NP_001186910.1:p.Pro45Gln NC_000002.12:206152437:G:T p.(Pro45Gln) NC_000002.12:206152437:G:T p.(Pro45Gln) NC_000002.12:206152437:G:T Identity +NM_001256324.2:c.3229C>T NP_001243253.1:p.Pro1077Ser NC_000017.11:50596893:C:T p.(Pro1077Ser) NC_000017.11:50596893:C:T p.(Pro1077Ser) NC_000017.11:50596893:C:T Identity +NM_001198557.2:c.259C>T NP_001185486.1:p.Arg87Cys NC_000005.10:126811847:C:T p.(Arg87Cys) NC_000005.10:126811847:C:T p.(Arg87Cys) NC_000005.10:126811847:C:T Identity +NM_001190964.4:c.3751C>A NP_001177893.1:p.Pro1251Thr NC_000013.11:20082962:C:A p.(Pro1251Thr) NC_000013.11:20082962:C:A p.(Pro1251Thr) NC_000013.11:20082962:C:A Identity +NM_014727.3:c.3370C>T NP_055542.1:p.Pro1124Ser NC_000019.10:35724671:C:T p.(Pro1124Ser) NC_000019.10:35724671:C:T p.(Pro1124Ser) NC_000019.10:35724671:C:T Identity +NM_005045.4:c.6832C>G NP_005036.2:p.Leu2278Val NC_000007.14:103540294:G:C p.(Leu2278Val) NC_000007.14:103540294:G:C p.(Leu2278Val) NC_000007.14:103540294:G:C Identity +NM_001283043.3:c.5003A>G NP_001269972.1:p.Asp1668Gly NC_000014.9:35627464:T:C p.(Asp1668Gly) NC_000014.9:35627464:T:C p.(Asp1668Gly) NC_000014.9:35627464:T:C Identity +NM_001366110.1:c.1008_1009dup NP_001353039.1:p.Gln337fs NC_000007.14:127611110:GAGAG:GAGAGAG p.(Gln337LeufsTer78) NC_000007.14:127611110:GAGAG:GAGAGAG p.(Gln337LeufsTer78) ERR:SPDI Analogous +NM_001282403.2:c.758G>T NP_001269332.1:p.Gly253Val NC_000007.14:76064951:G:T p.(Gly253Val) NC_000007.14:76064951:G:T p.(Gly253Val) NC_000007.14:76064951:G:T Identity +NM_001178032.3:c.103G>T NP_001171503.1:p.Glu35Ter NC_000023.11:64921869:C:A p.(Glu35Ter) NC_000023.11:64921869:C:A p.(Glu35Ter) NC_000023.11:64921869:C:A Identity +NM_001177984.3:c.4464G>T NP_001171455.1:p.Met1488Ile NC_000012.12:51794432:G:T p.(Met1488Ile) NC_000012.12:51794432:G:T p.(Met1488Ile) NC_000012.12:51794432:G:T Identity +NM_005559.4:c.9160T>C NP_005550.2:p.Phe3054Leu NC_000018.10:6942146:A:G p.(Phe3054Leu) NC_000018.10:6942146:A:G p.(Phe3054Leu) NC_000018.10:6942146:A:G Identity +NM_000364.4:c.143C>T NP_000355.2:p.Thr48Ile NC_000001.11:201368181:G:A p.(Thr48Ile) NC_000001.11:201368181:G:A p.(Thr48Ile) NC_000001.11:201368181:G:A Identity +NM_000169.3:c.374A>T NP_000160.1:p.His125Leu NC_000023.11:101401804:T:A p.(His125Leu) NC_000023.11:101401804:T:A p.(His125Leu) NC_000023.11:101401804:T:A Identity +NM_001362843.2:c.4074C>G NP_001349772.1:p.Asp1358Glu NC_000022.11:41168846:C:G p.(Asp1358Glu) NC_000022.11:41168846:C:G p.(Asp1358Glu) NC_000022.11:41168846:C:G Identity +NM_001330635.3:c.4460T>A NP_001317564.1:p.Leu1487Gln NC_000001.11:70121858:T:A p.(Leu1487Gln) NC_000001.11:70121858:T:A p.(Leu1487Gln) NC_000001.11:70121858:T:A Identity +NM_001349370.3:c.6785A>G NP_001336299.1:p.Tyr2262Cys NC_000003.12:47056866:T:C p.(Tyr2262Cys) NC_000003.12:47056866:T:C p.(Tyr2262Cys) NC_000003.12:47056866:T:C Identity +NM_001347721.2:c.1336del NP_001334650.1:p.Leu446fs NC_000021.9:37505404:CC:C p.(Leu446SerfsTer3) NC_000021.9:37505404:CC:C p.(Leu446SerfsTer3) NC_000021.9:37505405:C: Analogous +NM_001354263.2:c.3542A>G NP_001341192.1:p.Asp1181Gly NC_000009.12:137834370:A:G p.(Asp1181Gly) NC_000009.12:137834370:A:G p.(Asp1181Gly) NC_000009.12:137834370:A:G Identity +NM_000296.4:c.416G>T NP_000287.4:p.Trp139Leu NC_000016.10:2118788:C:A p.(Trp139Leu) NC_000016.10:2118788:C:A p.(Trp139Leu) NC_000016.10:2118788:C:A Identity +NM_024577.4:c.3272G>T NP_078853.2:p.Gly1091Val NC_000005.10:149010324:C:A p.(Gly1091Val) NC_000005.10:149010324:C:A p.(Gly1091Val) NC_000005.10:149010324:C:A Identity +NM_001324112.2:c.59C>A NP_001311041.1:p.Pro20Gln NC_000008.11:64798528:G:T p.(Pro20Gln) NC_000008.11:64798528:G:T p.(Pro20Gln) NC_000008.11:64798528:G:T Identity +NM_001256071.3:c.114C>G NP_001243000.2:p.Asn38Lys NC_000017.11:80273256:C:G p.(Asn38Lys) NC_000017.11:80273256:C:G p.(Asn38Lys) NC_000017.11:80273256:C:G Identity +NM_001273.5:c.1075G>A NP_001264.2:p.Val359Met NC_000012.12:6600383:C:T p.(Val359Met) NC_000012.12:6600383:C:T p.(Val359Met) NC_000012.12:6600383:C:T Identity +NM_001131005.2:c.909_910del NP_001124477.1:p.Ala304fs NC_000005.10:88729241:CT: p.(Ala304HisfsTer13) NC_000005.10:88729241:CT: p.(Ala304HisfsTer13) NC_000005.10:88729241:CT: Analogous +NM_173500.4:c.1973C>T NP_775771.3:p.Ala658Val NC_000015.10:42775159:G:A p.(Ala658Val) NC_000015.10:42775159:G:A p.(Ala658Val) NC_000015.10:42775159:G:A Identity +NM_000168.6:c.2257A>G NP_000159.3:p.Thr753Ala NC_000007.14:41967769:T:C p.(Thr753Ala) NC_000007.14:41967769:T:C p.(Thr753Ala) NC_000007.14:41967769:T:C Identity +NM_001201484.2:c.1297C>T NP_001188413.1:p.Arg433Trp NC_000009.12:35092589:G:A p.(Arg433Trp) NC_000009.12:35092589:G:A p.(Arg433Trp) NC_000009.12:35092589:G:A Identity +NM_001304815.2:c.6074dup NP_001291744.1:p.Ser2026fs NC_000019.10:42292730:CCCCCCC:CCCCCCCC p.(Ser2026LysfsTer34) NC_000019.10:42292730:CCCCCCC:CCCCCCCC p.(Ser2026LysfsTer34) ERR:SPDI Analogous +NM_000726.5:c.468A>C NP_000717.2:p.Arg156Ser NC_000002.12:151876478:T:G p.(Arg156Ser) NC_000002.12:151876478:T:G p.(Arg156Ser) NC_000002.12:151876478:T:G Identity +NM_001369346.1:c.1214C>T NP_001356275.1:p.Pro405Leu NC_000002.12:25750167:G:A p.(Pro405Leu) NC_000002.12:25750167:G:A p.(Pro405Leu) NC_000002.12:25750167:G:A Identity +NM_001367624.2:c.1829C>T NP_001354553.1:p.Pro610Leu NC_000016.10:88429298:C:T p.(Pro610Leu) NC_000016.10:88429298:C:T p.(Pro610Leu) NC_000016.10:88429298:C:T Identity +NM_001193464.2:c.767T>C NP_001180393.1:p.Leu256Pro NC_000002.12:43801670:T:C p.(Leu256Pro) NC_000002.12:43801670:T:C p.(Leu256Pro) NC_000002.12:43801670:T:C Identity +NM_004646.4:c.3058G>A NP_004637.1:p.Gly1020Arg NC_000019.10:35839287:C:T p.(Gly1020Arg) NC_000019.10:35839287:C:T p.(Gly1020Arg) NC_000019.10:35839287:C:T Identity +NM_001079846.1:c.6458A>G NP_001073315.1:p.Glu2153Gly NC_000016.10:3728474:T:C p.(Glu2153Gly) NC_000016.10:3728474:T:C p.(Glu2153Gly) NC_000016.10:3728474:T:C Identity +NM_001244580.2:c.8623A>G NP_001231509.1:p.Ser2875Gly NC_000007.14:98981777:A:G p.(Ser2875Gly) NC_000007.14:98981777:A:G p.(Ser2875Gly) NC_000007.14:98981777:A:G Identity +NM_001265612.2:c.2287A>G NP_001252541.1:p.Thr763Ala NC_000016.10:58558517:T:C p.(Thr763Ala) NC_000016.10:58558517:T:C p.(Thr763Ala) NC_000016.10:58558517:T:C Identity +NM_001018088.3:c.1304C>T NP_001018098.1:p.Thr435Ile NC_000015.10:62000612:G:A p.(Thr435Ile) NC_000015.10:62000612:G:A p.(Thr435Ile) NC_000015.10:62000612:G:A Identity +NM_000085.5:c.619del NP_000076.2:p.Val207fs NC_000001.11:16048545:G: p.(Val207TrpfsTer142) NC_000001.11:16048545:G: p.(Val207TrpfsTer142) NC_000001.11:16048545:G: Analogous +NM_001131019.3:c.371G>A NP_001124491.1:p.Arg124Gln NC_000017.11:44915115:C:T p.(Arg124Gln) NC_000017.11:44915115:C:T p.(Arg124Gln) NC_000017.11:44915115:C:T Identity +NM_000091.5:c.4669G>C NP_000082.2:p.Ala1557Pro NC_000002.12:227309231:G:C p.(Ala1557Pro) NC_000002.12:227309231:G:C p.(Ala1557Pro) NC_000002.12:227309231:G:C Identity +NM_017617.5:c.6913_6916del NP_060087.3:p.Asn2305fs NC_000009.12:136496822:CATTCA:CA p.(Asn2305ValfsTer30) NC_000009.12:136496822:CATTCA:CA p.(Asn2305ValfsTer30) NC_000009.12:136496822:CATT: Analogous +NM_000109.4:c.5578dup NP_000100.3:p.Arg1860fs NC_000023.11:32343270:TTT:TTTT p.(Arg1860LysfsTer20) NC_000023.11:32343270:TTT:TTTT p.(Arg1860LysfsTer20) ERR:SPDI Analogous +NM_001844.5:c.2939G>A NP_001835.3:p.Arg980Lys NC_000012.12:47978354:C:T p.(Arg980Lys) NC_000012.12:47978354:C:T p.(Arg980Lys) NC_000012.12:47978354:C:T Identity +NM_001017995.3:c.433G>A NP_001017995.1:p.Asp145Asn NC_000005.10:172362863:C:T p.(Asp145Asn) NC_000005.10:172362863:C:T p.(Asp145Asn) NC_000005.10:172362863:C:T Identity +NM_001351273.1:c.2178G>C NP_001338202.1:p.Glu726Asp NC_000019.10:1465481:G:C p.(Glu726Asp) NC_000019.10:1465481:G:C p.(Glu726Asp) NC_000019.10:1465481:G:C Identity +NM_001382235.1:c.457C>T NP_001369164.1:p.Arg153Trp NC_000020.11:63445294:G:A p.(Arg153Trp) NC_000020.11:63445294:G:A p.(Arg153Trp) NC_000020.11:63445294:G:A Identity +NM_001131019.3:c.586G>T NP_001124491.1:p.Glu196Ter NC_000017.11:44913759:C:A p.(Glu196Ter) NC_000017.11:44913759:C:A p.(Glu196Ter) NC_000017.11:44913759:C:A Identity +NM_001290787.2:c.1901C>T NP_001277716.1:p.Thr634Met NC_000002.12:232481587:G:A p.(Thr634Met) NC_000002.12:232481587:G:A p.(Thr634Met) NC_000002.12:232481587:G:A Identity +NM_001378418.1:c.2380C>T NP_001365347.1:p.Gln794Ter NC_000022.11:42212925:G:A p.(Gln794Ter) NC_000022.11:42212925:G:A p.(Gln794Ter) NC_000022.11:42212925:G:A Identity +NM_001400328.1:c.283C>T NP_001387257.1:p.Leu95Phe NC_000003.12:128056752:C:T p.(Leu95Phe) NC_000003.12:128056752:C:T p.(Leu95Phe) NC_000003.12:128056752:C:T Identity +NM_001354609.2:c.160A>G NP_001341538.1:p.Ile54Val NC_000007.14:140850190:T:C p.(Ile54Val) NC_000007.14:140850190:T:C p.(Ile54Val) NC_000007.14:140850190:T:C Identity +NM_001348768.2:c.640C>T NP_001335697.1:p.Gln214Ter NC_000002.12:196325080:G:A p.(Gln214Ter) NC_000002.12:196325080:G:A p.(Gln214Ter) NC_000002.12:196325080:G:A Identity +NM_006734.4:c.6317C>T NP_006725.3:p.Ser2106Leu NC_000006.12:142759970:G:A p.(Ser2106Leu) NC_000006.12:142759970:G:A p.(Ser2106Leu) NC_000006.12:142759970:G:A Identity +NM_000548.5:c.1528C>T NP_000539.2:p.Gln510Ter NC_000016.10:2064355:C:T p.(Gln510Ter) NC_000016.10:2064355:C:T p.(Gln510Ter) NC_000016.10:2064355:C:T Identity +NM_000261.2:c.781G>A NP_000252.1:p.Glu261Lys NC_000001.11:171636658:C:T p.(Glu261Lys) NC_000001.11:171636658:C:T p.(Glu261Lys) NC_000001.11:171636658:C:T Identity +NM_001321193.3:c.1007T>C NP_001308122.1:p.Leu336Ser NC_000003.12:177038352:A:G p.(Leu336Ser) NC_000003.12:177038352:A:G p.(Leu336Ser) NC_000003.12:177038352:A:G Identity +NM_014297.5:c.236A>T NP_055112.2:p.His79Leu NC_000019.10:43526339:T:A p.(His79Leu) NC_000019.10:43526339:T:A p.(His79Leu) NC_000019.10:43526339:T:A Identity +NM_001257970.1:c.1790G>T NP_001244899.1:p.Arg597Leu NC_000017.11:80198529:G:T p.(Arg597Leu) NC_000017.11:80198529:G:T p.(Arg597Leu) NC_000017.11:80198529:G:T Identity +NM_001080424.2:c.305G>A NP_001073893.1:p.Arg102Gln NC_000017.11:7846145:G:A p.(Arg102Gln) NC_000017.11:7846145:G:A p.(Arg102Gln) NC_000017.11:7846145:G:A Identity +NM_001142605.2:c.928G>A NP_001136077.1:p.Gly310Ser NC_000017.11:44868311:C:T p.(Gly310Ser) NC_000017.11:44868311:C:T p.(Gly310Ser) NC_000017.11:44868311:C:T Identity +NM_001282385.2:c.325T>C NP_001269314.1:p.Cys109Arg NC_000006.12:31669129:T:C p.(Cys109Arg) NC_000006.12:31669129:T:C p.(Cys109Arg) NC_000006.12:31669129:T:C Identity +NM_174916.3:c.593T>C NP_777576.1:p.Ile198Thr NC_000015.10:43070860:A:G p.(Ile198Thr) NC_000015.10:43070860:A:G p.(Ile198Thr) NC_000015.10:43070860:A:G Identity +NM_001410908.1:c.4118A>C NP_001397837.1:p.His1373Pro NC_000007.14:105111999:A:C p.(His1373Pro) NC_000007.14:105111999:A:C p.(His1373Pro) NC_000007.14:105111999:A:C Identity +NM_001844.5:c.1258G>T NP_001835.3:p.Gly420Ter NC_000012.12:47987276:C:A p.(Gly420Ter) NC_000012.12:47987276:C:A p.(Gly420Ter) NC_000012.12:47987276:C:A Identity +NM_001160227.2:c.4598G>A NP_001153699.1:p.Ser1533Asn NC_000015.10:44595295:C:T p.(Ser1533Asn) NC_000015.10:44595295:C:T p.(Ser1533Asn) NC_000015.10:44595295:C:T Identity +NM_001351527.2:c.2699C>G NP_001338456.1:p.Thr900Arg NC_000009.12:132328898:G:C p.(Thr900Arg) NC_000009.12:132328898:G:C p.(Thr900Arg) NC_000009.12:132328898:G:C Identity +NM_001161683.2:c.1453G>T NP_001155155.1:p.Ala485Ser NC_000016.10:21719387:G:T p.(Ala485Ser) NC_000016.10:21719387:G:T p.(Ala485Ser) NC_000016.10:21719387:G:T Identity +NM_153689.6:c.320C>G NP_710156.3:p.Pro107Arg NC_000002.12:199911757:C:G p.(Pro107Arg) NC_000002.12:199911757:C:G p.(Pro107Arg) NC_000002.12:199911757:C:G Identity +NM_001367479.1:c.5582C>T NP_001354408.1:p.Thr1861Ile NC_000001.11:225185336:C:T p.(Thr1861Ile) NC_000001.11:225185336:C:T p.(Thr1861Ile) NC_000001.11:225185336:C:T Identity +NM_030665.4:c.3737G>A NP_109590.3:p.Ser1246Asn NC_000017.11:17796684:G:A p.(Ser1246Asn) NC_000017.11:17796684:G:A p.(Ser1246Asn) NC_000017.11:17796684:G:A Identity +NM_001127612.3:c.802_806del NP_001121084.1:p.Glu268fs NC_000011.10:31793761:TCTTCTCTTCTC:TCTTCTC p.(Glu268LysfsTer14) NC_000011.10:31793761:TCTTCTCTTCTC:TCTTCTC p.(Glu268LysfsTer14) NC_000011.10:31793761:TCTTC: Analogous +NM_001376.5:c.6340G>A NP_001367.2:p.Glu2114Lys NC_000014.9:102010393:G:A p.(Glu2114Lys) NC_000014.9:102010393:G:A p.(Glu2114Lys) NC_000014.9:102010393:G:A Identity +NM_001204492.2:c.265G>A NP_001191421.1:p.Val89Met NC_000010.11:73853201:C:T p.(Val89Met) NC_000010.11:73853201:C:T p.(Val89Met) NC_000010.11:73853201:C:T Identity +NM_001256850.1:c.41483C>T NP_001243779.1:p.Ser13828Phe NC_000002.12:178620010:G:A p.(Ser13828Phe) NC_000002.12:178620010:G:A p.(Ser13828Phe) NC_000002.12:178620010:G:A Identity +NM_001128608.2:c.1444A>G NP_001122080.1:p.Ile482Val NC_000015.10:41815731:A:G p.(Ile482Val) NC_000015.10:41815731:A:G p.(Ile482Val) NC_000015.10:41815731:A:G Identity +NM_001001132.2:c.2122C>G NP_001001132.1:p.Leu708Val NC_000021.9:33797547:C:G p.(Leu708Val) NC_000021.9:33797547:C:G p.(Leu708Val) NC_000021.9:33797547:C:G Identity +NM_025114.4:c.2506G>T NP_079390.3:p.Glu836Ter NC_000012.12:88107075:C:A p.(Glu836Ter) NC_000012.12:88107075:C:A p.(Glu836Ter) NC_000012.12:88107075:C:A Identity +NM_005251.3:c.443_449dup NP_005242.1:p.Asp151fs NC_000016.10:86567769:CTGGACCCTGGACCC:CTGGACCCTGGACCCTGGACCC p.(Asp151GlyfsTer314) NC_000016.10:86567769:CTGGACCCTGGACCC:CTGGACCCTGGACCCTGGACCC p.(Asp151GlyfsTer314) ERR:SPDI Analogous +NM_001351444.2:c.2644G>C NP_001338373.1:p.Glu882Gln NC_000006.12:87256692:G:C p.(Glu882Gln) NC_000006.12:87256692:G:C p.(Glu882Gln) NC_000006.12:87256692:G:C Identity +NM_001164766.2:c.3298C>T NP_001158238.1:p.Gln1100Ter NC_000016.10:72796641:G:A p.(Gln1100Ter) NC_000016.10:72796641:G:A p.(Gln1100Ter) NC_000016.10:72796641:G:A Identity +NM_002016.2:c.8307G>C NP_002007.1:p.Gln2769His NC_000001.11:152306578:C:G p.(Gln2769His) NC_000001.11:152306578:C:G p.(Gln2769His) NC_000001.11:152306578:C:G Identity +NM_001204831.3:c.1A>G NP_001191760.1:p.Met1Val NC_000003.12:43605851:T:C p.(Met1Val) NC_000003.12:43605851:T:C p.Met1? NC_000003.12:43605851:T:C Identity +NM_000296.4:c.12054_12058dup NP_000287.4:p.Arg4020fs NC_000016.10:2090750:GGCAT:GGCATGGCAT p.(Arg4020HisfsTer20) NC_000016.10:2090750:GGCAT:GGCATGGCAT p.(Arg4020HisfsTer20) ERR:SPDI Analogous +NM_153252.5:c.11C>T NP_694984.5:p.Ala4Val NC_000023.11:80809460:G:A p.(Ala4Val) NC_000023.11:80809460:G:A p.(Ala4Val) NC_000023.11:80809460:G:A Identity +NM_001270399.2:c.889G>A NP_001257328.1:p.Glu297Lys NC_000012.12:49185476:C:T p.(Glu297Lys) NC_000012.12:49185476:C:T p.(Glu297Lys) NC_000012.12:49185476:C:T Identity +NM_004444.5:c.216G>A NP_004435.3:p.Trp72Ter NC_000007.14:100823838:C:T p.(Trp72Ter) NC_000007.14:100823838:C:T p.(Trp72Ter) NC_000007.14:100823838:C:T Identity +NM_001040142.2:c.3559G>A NP_001035232.1:p.Glu1187Lys NC_000002.12:165367254:G:A p.(Glu1187Lys) NC_000002.12:165367254:G:A p.(Glu1187Lys) NC_000002.12:165367254:G:A Identity +NM_138477.4:c.2660C>T NP_612486.2:p.Ala887Val NC_000015.10:42728795:G:A p.(Ala887Val) NC_000015.10:42728795:G:A p.(Ala887Val) NC_000015.10:42728795:G:A Identity +NM_001320974.2:c.211C>T NP_001307903.1:p.Arg71Ter NC_000010.11:99729613:G:A p.(Arg71Ter) NC_000010.11:99729613:G:A p.(Arg71Ter) NC_000010.11:99729613:G:A Identity +NM_000122.2:c.1300G>T NP_000113.1:p.Glu434Ter NC_000002.12:127286744:C:A p.(Glu434Ter) NC_000002.12:127286744:C:A p.(Glu434Ter) NC_000002.12:127286744:C:A Identity +NM_000109.4:c.3313_3314insTGGG NP_000100.3:p.Gln1105fs NC_000023.11:32463533::CCCA p.(Gln1105LeufsTer7) NC_000023.11:32463532:T:CCCA p.(Gln1105LeufsTer7) NC_000023.11:32463533:TG:CCCA Analogous +NM_178012.5:c.244G>A NP_821080.1:p.Gly82Ser NC_000006.12:3226191:C:T p.(Gly82Ser) NC_000006.12:3226191:C:T p.(Gly82Ser) NC_000006.12:3226191:C:T Identity +NM_000059.4:c.8296A>T NP_000050.3:p.Thr2766Ser NC_000013.11:32363497:A:T p.(Thr2766Ser) NC_000013.11:32363497:A:T p.(Thr2766Ser) NC_000013.11:32363497:A:T Identity +NM_001024858.4:c.1628G>A NP_001020029.1:p.Trp543Ter NC_000014.9:64795352:C:T p.(Trp543Ter) NC_000014.9:64795352:C:T p.(Trp543Ter) NC_000014.9:64795352:C:T Identity +NM_001256324.2:c.6319T>A NP_001243253.1:p.Trp2107Arg NC_000017.11:50626124:T:A p.(Trp2107Arg) NC_000017.11:50626124:T:A p.(Trp2107Arg) NC_000017.11:50626124:T:A Identity +NM_015103.3:c.5629A>G NP_055918.3:p.Ile1877Val NC_000003.12:129556648:T:C p.(Ile1877Val) NC_000003.12:129556648:T:C p.(Ile1877Val) NC_000003.12:129556648:T:C Identity +NM_001145073.3:c.1032G>C NP_001138545.1:p.Glu344Asp NC_000023.11:49881338:G:C p.(Glu344Asp) NC_000023.11:49881338:G:C p.(Glu344Asp) NC_000023.11:49881338:G:C Identity +NM_015335.5:c.6039del NP_056150.1:p.Asn2014fs NC_000012.12:115970621:GGGG:GGG p.(Asn2014MetfsTer29) NC_000012.12:115970621:GGGG:GGG p.(Asn2014MetfsTer29) NC_000012.12:115970621:G: Analogous +NM_001130847.4:c.649C>G NP_001124319.1:p.Leu217Val NC_000023.11:130145525:G:C p.(Leu217Val) NC_000023.11:130145525:G:C p.(Leu217Val) NC_000023.11:130145525:G:C Identity +NM_017780.4:c.5893A>C NP_060250.2:p.Lys1965Gln NC_000008.11:60852245:A:C p.(Lys1965Gln) NC_000008.11:60852245:A:C p.(Lys1965Gln) NC_000008.11:60852245:A:C Identity +NM_147191.1:c.793C>G NP_671724.1:p.His265Asp NC_000010.11:125772654:G:C p.(His265Asp) NC_000010.11:125772654:G:C p.(His265Asp) NC_000010.11:125772654:G:C Identity +NM_004268.5:c.1166C>G NP_004259.3:p.Ser389Cys NC_000011.10:93797556:C:G p.(Ser389Cys) NC_000011.10:93797556:C:G p.(Ser389Cys) NC_000011.10:93797556:C:G Identity +NM_001127392.3:c.2026A>T NP_001120864.1:p.Met676Leu NC_000011.10:61779274:A:T p.(Met676Leu) NC_000011.10:61779274:A:T p.(Met676Leu) NC_000011.10:61779274:A:T Identity +NM_001354726.2:c.1678C>T NP_001341655.1:p.Arg560Trp NC_000003.12:14148724:G:A p.(Arg560Trp) NC_000003.12:14148724:G:A p.(Arg560Trp) NC_000003.12:14148724:G:A Identity +NM_001042681.2:c.1247T>G NP_001036146.1:p.Phe416Cys NC_000001.11:8422763:A:C p.(Phe416Cys) NC_000001.11:8422763:A:C p.(Phe416Cys) NC_000001.11:8422763:A:C Identity +NM_001163673.2:c.788G>A NP_001157145.1:p.Arg263Gln NC_000017.11:1732738:G:A p.(Arg263Gln) NC_000017.11:1732738:G:A p.(Arg263Gln) NC_000017.11:1732738:G:A Identity +NM_000296.4:c.2239G>A NP_000287.4:p.Ala747Thr NC_000016.10:2114783:C:T p.(Ala747Thr) NC_000016.10:2114783:C:T p.(Ala747Thr) NC_000016.10:2114783:C:T Identity +NM_001256182.2:c.4489A>T NP_001243111.1:p.Arg1497Trp NC_000016.10:89282052:T:A p.(Arg1497Trp) NC_000016.10:89282052:T:A p.(Arg1497Trp) NC_000016.10:89282052:T:A Identity +NM_000052.7:c.2280C>G NP_000043.4:p.Tyr760Ter NC_000023.11:78012985:C:G p.(Tyr760Ter) NC_000023.11:78012985:C:G p.(Tyr760Ter) NC_000023.11:78012985:C:G Identity +NM_000296.4:c.7113_7114dup NP_000287.4:p.Ser2372fs NC_000016.10:2106899:ACACACAC:ACACACACAC p.(Ser2372CysfsTer11) NC_000016.10:2106899:ACACACAC:ACACACACAC p.(Ser2372CysfsTer11) ERR:SPDI Analogous +NM_001367624.2:c.1354C>T NP_001354553.1:p.Pro452Ser NC_000016.10:88428823:C:T p.(Pro452Ser) NC_000016.10:88428823:C:T p.(Pro452Ser) NC_000016.10:88428823:C:T Identity +NM_001177984.3:c.5263G>A NP_001171455.1:p.Asp1755Asn NC_000012.12:51806871:G:A p.(Asp1755Asn) NC_000012.12:51806871:G:A p.(Asp1755Asn) NC_000012.12:51806871:G:A Identity +NM_001199818.1:c.2363G>T NP_001186747.1:p.Ser788Ile NC_000023.11:102717231:G:T p.(Ser788Ile) NC_000023.11:102717231:G:T p.(Ser788Ile) NC_000023.11:102717231:G:T Identity +NM_000068.4:c.2908del NP_000059.3:p.Glu970fs NC_000019.10:13298736:CCCC:CCC p.(Glu970ArgfsTer103) NC_000019.10:13298736:CCCC:CCC p.(Glu970ArgfsTer103) NC_000019.10:13298736:C: Analogous +NM_001351527.2:c.973A>G NP_001338456.1:p.Asn325Asp NC_000009.12:132331313:T:C p.(Asn325Asp) NC_000009.12:132331313:T:C p.(Asn325Asp) NC_000009.12:132331313:T:C Identity +NM_016239.4:c.3259G>A NP_057323.3:p.Ala1087Thr NC_000017.11:18122058:G:A p.(Ala1087Thr) NC_000017.11:18122058:G:A p.(Ala1087Thr) NC_000017.11:18122058:G:A Identity +NM_001346813.1:c.5975T>G NP_001333742.1:p.Val1992Gly NC_000006.12:157206995:T:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000109.4:c.823del NP_000100.3:p.Ala275fs NC_000023.11:32697982:C: p.(Ala275HisfsTer52) NC_000023.11:32697982:C: p.(Ala275HisfsTer52) NC_000023.11:32697982:C: Analogous +NM_001035.3:c.10562del NP_001026.2:p.Asp3521fs NC_000001.11:237723134:A: p.(Asp3521ValfsTer28) NC_000001.11:237723134:A: p.(Asp3521ValfsTer28) NC_000001.11:237723134:A: Analogous +NM_015378.4:c.2855C>T NP_056193.2:p.Ser952Leu NC_000001.11:12276442:C:T p.(Ser952Leu) NC_000001.11:12276442:C:T p.(Ser952Leu) NC_000001.11:12276442:C:T Identity +NM_005859.5:c.381C>A NP_005850.1:p.Ser127Arg NC_000005.10:140114561:C:A p.(Ser127Arg) NC_000005.10:140114561:C:A p.(Ser127Arg) NC_000005.10:140114561:C:A Identity +NM_001291860.2:c.9824G>A NP_001278789.1:p.Gly3275Asp NC_000001.11:21839438:C:T p.(Gly3275Asp) NC_000001.11:21839438:C:T p.(Gly3275Asp) NC_000001.11:21839438:C:T Identity +NM_001278055.2:c.11448G>A NP_001264984.1:p.Met3816Ile NC_000013.11:23331986:C:T p.(Met3816Ile) NC_000013.11:23331986:C:T p.(Met3816Ile) NC_000013.11:23331986:C:T Identity +NM_000457.6:c.1334C>T NP_000448.3:p.Pro445Leu NC_000020.11:44429573:C:T p.(Pro445Leu) NC_000020.11:44429573:C:T p.(Pro445Leu) NC_000020.11:44429573:C:T Identity +NM_018109.4:c.1228G>T NP_060579.3:p.Asp410Tyr NC_000010.11:30316201:C:A p.(Asp410Tyr) NC_000010.11:30316201:C:A p.(Asp410Tyr) NC_000010.11:30316201:C:A Identity +NM_033071.5:c.13066C>T NP_149062.2:p.Leu4356Phe NC_000006.12:152331405:G:A p.(Leu4356Phe) NC_000006.12:152331405:G:A p.(Leu4356Phe) NC_000006.12:152331405:G:A Identity +NM_033071.5:c.21515G>A NP_149062.2:p.Arg7172Lys NC_000006.12:152220974:C:T p.(Arg7172Lys) NC_000006.12:152220974:C:T p.(Arg7172Lys) NC_000006.12:152220974:C:T Identity +NM_000296.4:c.6759_6760delinsT NP_000287.4:p.Glu2254fs NC_000016.10:2108406:CG:A p.(Glu2254SerfsTer60) NC_000016.10:2108406:CG:A p.(Glu2254SerfsTer60) NC_000016.10:2108406:CG:A Analogous +NM_000296.4:c.7213T>C NP_000287.4:p.Trp2405Arg NC_000016.10:2106673:A:G p.(Trp2405Arg) NC_000016.10:2106673:A:G p.(Trp2405Arg) NC_000016.10:2106673:A:G Identity +NM_001256850.1:c.4770G>C NP_001243779.1:p.Leu1590Phe NC_000002.12:178777192:C:G p.(Leu1590Phe) NC_000002.12:178777192:C:G p.(Leu1590Phe) NC_000002.12:178777192:C:G Identity +NM_005898.5:c.977C>A NP_005889.3:p.Ser326Ter NC_000011.10:34086073:C:A p.(Ser326Ter) NC_000011.10:34086073:C:A p.(Ser326Ter) NC_000011.10:34086073:C:A Identity +NM_030665.4:c.2589G>C NP_109590.3:p.Glu863Asp NC_000017.11:17795536:G:C p.(Glu863Asp) NC_000017.11:17795536:G:C p.(Glu863Asp) NC_000017.11:17795536:G:C Identity +NM_001172509.2:c.1634T>C NP_001165980.1:p.Leu545Pro NC_000002.12:199308865:A:G p.(Leu545Pro) NC_000002.12:199308865:A:G p.(Leu545Pro) NC_000002.12:199308865:A:G Identity +NM_022168.4:c.682A>T NP_071451.2:p.Thr228Ser NC_000002.12:162306795:T:A p.(Thr228Ser) NC_000002.12:162306795:T:A p.(Thr228Ser) NC_000002.12:162306795:T:A Identity +NM_000832.7:c.362T>C NP_000823.4:p.Leu121Pro NC_000009.12:137142115:T:C p.(Leu121Pro) NC_000009.12:137142115:T:C p.(Leu121Pro) NC_000009.12:137142115:T:C Identity +NM_175876.5:c.1795del NP_787072.2:p.Ser599fs NC_000001.11:231335950:TT:T p.(Ser599ValfsTer13) NC_000001.11:231335950:TT:T p.(Ser599ValfsTer13) NC_000001.11:231335950:T: Analogous +NM_000257.4:c.5392G>T NP_000248.2:p.Asp1798Tyr NC_000014.9:23415161:C:A p.(Asp1798Tyr) NC_000014.9:23415161:C:A p.(Asp1798Tyr) NC_000014.9:23415161:C:A Identity +NM_022114.4:c.352C>T NP_071397.3:p.Arg118Trp NC_000001.11:3186438:C:T p.(Arg118Trp) NC_000001.11:3186438:C:T p.(Arg118Trp) NC_000001.11:3186438:C:T Identity +NM_014334.4:c.246dup NP_055149.3:p.Phe83fs NC_000009.12:109149712:GGGG:GGGGG p.(Phe83LeufsTer22) NC_000009.12:109149712:GGGG:GGGGG p.(Phe83LeufsTer22) ERR:SPDI Analogous +NM_138961.3:c.115del NP_620411.2:p.Arg39fs NC_000011.10:124758482:GG:G p.(Arg39GlyfsTer33) NC_000011.10:124758482:GG:G p.(Arg39GlyfsTer33) NC_000011.10:124758482:G: Analogous +NM_001256324.2:c.6734C>T NP_001243253.1:p.Pro2245Leu NC_000017.11:50626539:C:T p.(Pro2245Leu) NC_000017.11:50626539:C:T p.(Pro2245Leu) NC_000017.11:50626539:C:T Identity +NM_000109.4:c.4283C>G NP_000100.3:p.Ala1428Gly NC_000023.11:32390107:G:C p.(Ala1428Gly) NC_000023.11:32390107:G:C p.(Ala1428Gly) NC_000023.11:32390107:G:C Identity +NM_001293306.2:c.1162C>G NP_001280235.2:p.Leu388Val NC_000003.12:38756801:G:C p.(Leu388Val) NC_000003.12:38756801:G:C p.(Leu388Val) NC_000003.12:38756801:G:C Identity +NM_005559.4:c.8366C>T NP_005550.2:p.Pro2789Leu NC_000018.10:6950812:G:A p.(Pro2789Leu) NC_000018.10:6950812:G:A p.(Pro2789Leu) NC_000018.10:6950812:G:A Identity +NM_001291997.2:c.824C>T NP_001278926.1:p.Ala275Val NC_000016.10:79211713:C:T p.(Ala275Val) NC_000016.10:79211713:C:T p.(Ala275Val) NC_000016.10:79211713:C:T Identity +NM_000806.5:c.289T>A NP_000797.2:p.Trp97Arg NC_000005.10:161873149:T:A p.(Trp97Arg) NC_000005.10:161873149:T:A p.(Trp97Arg) NC_000005.10:161873149:T:A Identity +NM_001085049.3:c.27C>A NP_001078518.1:p.Asp9Glu NC_000003.12:138372909:C:A p.(Asp9Glu) NC_000003.12:138372909:C:A p.(Asp9Glu) NC_000003.12:138372909:C:A Identity +NM_001134673.4:c.634G>A NP_001128145.1:p.Gly212Ser NC_000001.11:61332519:G:A p.(Gly212Ser) NC_000001.11:61332519:G:A p.(Gly212Ser) NC_000001.11:61332519:G:A Identity +NM_025216.3:c.353A>G NP_079492.2:p.Tyr118Cys NC_000002.12:218882399:A:G p.(Tyr118Cys) NC_000002.12:218882399:A:G p.(Tyr118Cys) NC_000002.12:218882399:A:G Identity +NM_004369.4:c.2655G>T NP_004360.2:p.Lys885Asn NC_000002.12:237377186:C:A p.(Lys885Asn) NC_000002.12:237377186:C:A p.(Lys885Asn) NC_000002.12:237377186:C:A Identity +NM_001164507.2:c.2079C>A NP_001157979.2:p.Cys693Ter NC_000002.12:151692085:G:T p.(Cys693Ter) NC_000002.12:151692085:G:T p.(Cys693Ter) NC_000002.12:151692085:G:T Identity +NM_001025108.2:c.3619G>A NP_001020279.1:p.Ala1207Thr NC_000002.12:99554325:C:T p.(Ala1207Thr) NC_000002.12:99554325:C:T p.(Ala1207Thr) NC_000002.12:99554325:C:T Identity +NM_001024847.3:c.1227T>A NP_001020018.1:p.Asn409Lys NC_000003.12:30672334:T:A p.(Asn409Lys) NC_000003.12:30672334:T:A p.(Asn409Lys) NC_000003.12:30672334:T:A Identity +NM_001378454.1:c.3922G>A NP_001365383.1:p.Glu1308Lys NC_000002.12:73450448:G:A p.(Glu1308Lys) NC_000002.12:73450448:G:A p.(Glu1308Lys) NC_000002.12:73450448:G:A Identity +NM_001040142.2:c.4022T>C NP_001035232.1:p.Leu1341Pro NC_000002.12:165374733:T:C p.(Leu1341Pro) NC_000002.12:165374733:T:C p.(Leu1341Pro) NC_000002.12:165374733:T:C Identity +NM_001204269.2:c.621C>A NP_001191198.1:p.Asn207Lys NC_000001.11:110604161:G:T p.(Asn207Lys) NC_000001.11:110604161:G:T p.(Asn207Lys) NC_000001.11:110604161:G:T Identity +NM_000276.4:c.2051_2055delinsCTA NP_000267.2:p.Leu684fs NC_000023.11:129576487:TAGAG:CTA p.(Leu684SerfsTer41) NC_000023.11:129576487:TAGAG:CTA p.(Leu684SerfsTer41) NC_000023.11:129576487:TAGAG:CTA Analogous +NM_001160372.4:c.3257C>G NP_001153844.1:p.Ser1086Cys NC_000008.11:139732000:G:C p.(Ser1086Cys) NC_000008.11:139732000:G:C p.(Ser1086Cys) NC_000008.11:139732000:G:C Identity +NM_014712.3:c.526C>T NP_055527.1:p.Arg176Ter NC_000016.10:30963440:C:T p.(Arg176Ter) NC_000016.10:30963440:C:T p.(Arg176Ter) NC_000016.10:30963440:C:T Identity +NM_001348406.2:c.304C>T NP_001335335.1:p.Arg102Ter NC_000002.12:65016602:C:T p.(Arg102Ter) NC_000002.12:65016602:C:T p.(Arg102Ter) NC_000002.12:65016602:C:T Identity +NM_000815.5:c.1328A>G NP_000806.2:p.Asn443Ser NC_000001.11:2030250:A:G p.(Asn443Ser) NC_000001.11:2030250:A:G p.(Asn443Ser) NC_000001.11:2030250:A:G Identity +NM_001040142.2:c.787G>T NP_001035232.1:p.Ala263Ser NC_000002.12:165310411:G:T p.(Ala263Ser) NC_000002.12:165310411:G:T p.(Ala263Ser) NC_000002.12:165310411:G:T Identity +NM_017433.5:c.4484G>A NP_059129.3:p.Arg1495Gln NC_000010.11:26193249:G:A p.(Arg1495Gln) NC_000010.11:26193249:G:A p.(Arg1495Gln) NC_000010.11:26193249:G:A Identity +NM_000257.4:c.488A>C NP_000248.2:p.Gln163Pro NC_000014.9:23432652:T:G p.(Gln163Pro) NC_000014.9:23432652:T:G p.(Gln163Pro) NC_000014.9:23432652:T:G Identity +NM_020982.4:c.614G>A NP_066192.1:p.Arg205His NC_000016.10:3013975:G:A p.(Arg205His) NC_000016.10:3013975:G:A p.(Arg205His) NC_000016.10:3013975:G:A Identity +NM_006767.4:c.863C>T NP_006758.2:p.Thr288Ile NC_000022.11:20991698:C:T p.(Thr288Ile) NC_000022.11:20991698:C:T p.(Thr288Ile) NC_000022.11:20991698:C:T Identity +NM_015057.5:c.4225A>G NP_055872.4:p.Arg1409Gly NC_000013.11:77188976:T:C p.(Arg1409Gly) NC_000013.11:77188976:T:C p.(Arg1409Gly) NC_000013.11:77188976:T:C Identity +NM_007118.4:c.4640A>T NP_009049.2:p.His1547Leu NC_000005.10:14400987:A:T p.(His1547Leu) NC_000005.10:14400987:A:T p.(His1547Leu) NC_000005.10:14400987:A:T Identity +NM_001080517.3:c.883G>A NP_001073986.1:p.Asp295Asn NC_000003.12:9441664:G:A p.(Asp295Asn) NC_000003.12:9441664:G:A p.(Asp295Asn) NC_000003.12:9441664:G:A Identity +NM_001291285.3:c.1796G>A NP_001278214.1:p.Gly599Glu NC_000004.12:125318206:G:A p.(Gly599Glu) NC_000004.12:125318206:G:A p.(Gly599Glu) NC_000004.12:125318206:G:A Identity +NM_003482.4:c.3943C>T NP_003473.3:p.Arg1315Cys NC_000012.12:49049181:G:A p.(Arg1315Cys) NC_000012.12:49049181:G:A p.(Arg1315Cys) NC_000012.12:49049181:G:A Identity +NM_001194937.2:c.3791del NP_001181866.1:p.Lys1264fs NC_000001.11:151405216:TT:T p.(Lys1264ArgfsTer37) NC_000001.11:151405216:TT:T p.(Lys1264ArgfsTer37) NC_000001.11:151405216:T: Analogous +NM_001165963.4:c.53_55del NP_001159435.1:p.Thr18del NC_000002.12:166073566:TGGTG:TG p.(Thr18del) NC_000002.12:166073566:TGGTG:TG p.(Thr18del) NC_000002.12:166073566:TGG: Identity +NM_139058.3:c.435_475del NP_620689.1:p.Ala146fs NC_000023.11:25013519:GCGTGTCCCAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCG:GCG p.(Ala146GlnfsTer78) NC_000023.11:25013519:GCGTGTCCCAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCG:GCG p.(Ala146GlnfsTer78) NC_000023.11:25013519:GCGTGTCCCAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCG: Analogous +NM_000069.3:c.3806A>G NP_000060.2:p.Tyr1269Cys NC_000001.11:201053263:T:C p.(Tyr1269Cys) NC_000001.11:201053263:T:C p.(Tyr1269Cys) NC_000001.11:201053263:T:C Identity +NM_000212.3:c.1185del NP_000203.2:p.Phe396fs NC_000017.11:47291011:CC:C p.(Phe396SerfsTer26) NC_000017.11:47291011:CC:C p.(Phe396SerfsTer26) NC_000017.11:47291012:C: Analogous +NM_001261414.3:c.1334G>A NP_001248343.1:p.Trp445Ter NC_000012.12:23543284:C:T p.(Trp445Ter) NC_000012.12:23543284:C:T p.(Trp445Ter) NC_000012.12:23543284:C:T Identity +NM_000419.5:c.2255T>G NP_000410.2:p.Leu752Arg NC_000017.11:44377020:A:C p.(Leu752Arg) NC_000017.11:44377020:A:C p.(Leu752Arg) NC_000017.11:44377020:A:C Identity +NM_000159.4:c.472G>A NP_000150.1:p.Glu158Lys NC_000019.10:12893619:G:A p.(Glu158Lys) NC_000019.10:12893619:G:A p.(Glu158Lys) NC_000019.10:12893619:G:A Identity +NM_022168.4:c.2405A>C NP_071451.2:p.Asn802Thr NC_000002.12:162273843:T:G p.(Asn802Thr) NC_000002.12:162273843:T:G p.(Asn802Thr) NC_000002.12:162273843:T:G Identity +NM_001354435.2:c.4205C>A NP_001341364.1:p.Ala1402Asp NC_000004.12:99650443:G:T p.(Ala1402Asp) NC_000004.12:99650443:G:T p.(Ala1402Asp) NC_000004.12:99650443:G:T Identity +NM_001365276.2:c.8718C>G NP_001352205.1:p.His2906Gln NC_000006.12:32053460:G:C p.(His2906Gln) NC_000006.12:32053460:G:C p.(His2906Gln) NC_000006.12:32053460:G:C Identity +NM_005577.4:c.2969G>A NP_005568.2:p.Arg990Gln NC_000006.12:160601074:C:T p.(Arg990Gln) NC_000006.12:160601074:C:T p.(Arg990Gln) NC_000006.12:160601074:C:T Identity +NM_000168.6:c.1421C>T NP_000159.3:p.Pro474Leu NC_000007.14:42023543:G:A p.(Pro474Leu) NC_000007.14:42023543:G:A p.(Pro474Leu) NC_000007.14:42023543:G:A Identity +NM_001328635.2:c.2821C>T NP_001315564.1:p.Arg941Cys NC_000001.11:175324492:G:A p.(Arg941Cys) NC_000001.11:175324492:G:A p.(Arg941Cys) NC_000001.11:175324492:G:A Identity +NM_000089.4:c.1676G>A NP_000080.2:p.Gly559Asp NC_000007.14:94414231:G:A p.(Gly559Asp) NC_000007.14:94414231:G:A p.(Gly559Asp) NC_000007.14:94414231:G:A Identity +NM_001382235.1:c.2609dup NP_001369164.1:p.Pro871fs NC_000020.11:63406707:GGGGG:GGGGGG p.(Pro871AlafsTer12) NC_000020.11:63406707:GGGGG:GGGGGG p.(Pro871AlafsTer12) ERR:SPDI Analogous +NM_001288607.2:c.1853A>G NP_001275536.1:p.Tyr618Cys NC_000001.11:150556972:A:G p.(Tyr618Cys) NC_000001.11:150556972:A:G p.(Tyr618Cys) NC_000001.11:150556972:A:G Identity +NM_001410975.1:c.1318_1324delGCCATTG NP_001397904.1:p.Ile441Profs NC_000002.12:201757545:GGCCAATGGC:GGC p.(Ile441ProfsTer4) NC_000002.12:201757545:GGCCAATGGC:GGC p.(Ile441ProfsTer4) NC_000002.12:201757548:CAATGGC: Analogous +NM_001376864.1:c.4846G>A NP_001363793.1:p.Gly1616Ser NC_000022.11:50278633:C:T p.(Gly1616Ser) NC_000022.11:50278633:C:T p.(Gly1616Ser) NC_000022.11:50278633:C:T Identity +NM_000414.4:c.1724C>G NP_000405.1:p.Thr575Ser NC_000005.10:119527175:C:G p.(Thr575Ser) NC_000005.10:119527175:C:G p.(Thr575Ser) NC_000005.10:119527175:C:G Identity +NM_001143779.2:c.653_656del NP_001137251.1:p.Arg218fs NC_000012.12:110135388:AGAGAGAGA:AGAGA p.(Arg218LysfsTer29) NC_000012.12:110135388:AGAGAGAGA:AGAGA p.(Arg218LysfsTer29) NC_000012.12:110135393:GAGA: Analogous +NM_001160227.2:c.6082G>A NP_001153699.1:p.Ala2028Thr NC_000015.10:44570580:C:T p.(Ala2028Thr) NC_000015.10:44570580:C:T p.(Ala2028Thr) NC_000015.10:44570580:C:T Identity +NM_001308258.2:c.825C>G NP_001295187.1:p.His275Gln NC_000003.12:149153567:C:G p.(His275Gln) NC_000003.12:149153567:C:G p.(His275Gln) NC_000003.12:149153567:C:G Identity +NM_006662.3:c.4772C>T NP_006653.2:p.Ala1591Val NC_000016.10:30724195:C:T p.(Ala1591Val) NC_000016.10:30724195:C:T p.(Ala1591Val) NC_000016.10:30724195:C:T Identity +NM_014727.3:c.316G>A NP_055542.1:p.Gly106Ser NC_000019.10:35718333:G:A p.(Gly106Ser) NC_000019.10:35718333:G:A p.(Gly106Ser) NC_000019.10:35718333:G:A Identity +NM_001410908.1:c.2297T>C NP_001397837.1:p.Val766Ala NC_000007.14:105105538:T:C p.(Val766Ala) NC_000007.14:105105538:T:C p.(Val766Ala) NC_000007.14:105105538:T:C Identity +NM_002641.4:c.1223C>G NP_002632.1:p.Pro408Arg NC_000023.11:15321737:G:C p.(Pro408Arg) NC_000023.11:15321737:G:C p.(Pro408Arg) NC_000023.11:15321737:G:C Identity +NM_001719.3:c.592C>T NP_001710.1:p.Leu198Phe NC_000020.11:57228247:G:A p.(Leu198Phe) NC_000020.11:57228247:G:A p.(Leu198Phe) NC_000020.11:57228247:G:A Identity +NM_001098511.3:c.349C>T NP_001091981.1:p.Arg117Cys NC_000005.10:62352601:C:T p.(Arg117Cys) NC_000005.10:62352601:C:T p.(Arg117Cys) NC_000005.10:62352601:C:T Identity +NM_001166102.2:c.938C>T NP_001159574.1:p.Ser313Leu NC_000011.10:67611453:C:T p.(Ser313Leu) NC_000011.10:67611453:C:T p.(Ser313Leu) NC_000011.10:67611453:C:T Identity +NM_001243835.2:c.1538A>T NP_001230764.1:p.Asp513Val NC_000002.12:191036195:T:A p.(Asp513Val) NC_000002.12:191036195:T:A p.(Asp513Val) NC_000002.12:191036195:T:A Identity +NM_000492.4:c.1346A>G NP_000483.3:p.Glu449Gly NC_000007.14:117548776:A:G p.(Glu449Gly) NC_000007.14:117548776:A:G p.(Glu449Gly) NC_000007.14:117548776:A:G Identity +NM_001135659.3:c.554G>A NP_001129131.1:p.Arg185His NC_000002.12:51027719:C:T p.(Arg185His) NC_000002.12:51027719:C:T p.(Arg185His) NC_000002.12:51027719:C:T Identity +NM_030665.4:c.2734G>T NP_109590.3:p.Ala912Ser NC_000017.11:17795681:G:T p.(Ala912Ser) NC_000017.11:17795681:G:T p.(Ala912Ser) NC_000017.11:17795681:G:T Identity +NM_001206846.2:c.626A>G NP_001193775.1:p.Asn209Ser NC_000001.11:197143625:T:C p.(Asn209Ser) NC_000001.11:197143625:T:C p.(Asn209Ser) NC_000001.11:197143625:T:C Identity +NM_001283009.2:c.173C>G NP_001269938.1:p.Ala58Gly NC_000020.11:63661367:C:G p.(Ala58Gly) NC_000020.11:63661367:C:G p.(Ala58Gly) NC_000020.11:63661367:C:G Identity +NM_001178010.2:c.470G>A NP_001171481.1:p.Arg157His NC_000022.11:19483988:G:A p.(Arg157His) NC_000022.11:19483988:G:A p.(Arg157His) NC_000022.11:19483988:G:A Identity +NM_198578.4:c.6584C>T NP_940980.4:p.Ala2195Val NC_000012.12:40354305:C:T p.(Ala2195Val) NC_000012.12:40354305:C:T p.(Ala2195Val) NC_000012.12:40354305:C:T Identity +NM_000116.5:c.611A>G NP_000107.1:p.His204Arg NC_000023.11:154420058:A:G p.(His204Arg) NC_000023.11:154420058:A:G p.(His204Arg) NC_000023.11:154420058:A:G Identity +NM_001040613.3:c.91G>A NP_001035703.1:p.Gly31Ser NC_000008.11:73976371:G:A p.(Gly31Ser) NC_000008.11:73976371:G:A p.(Gly31Ser) NC_000008.11:73976371:G:A Identity +NM_001313915.2:c.1999A>G NP_001300844.1:p.Ser667Gly NC_000002.12:88575030:T:C p.(Ser667Gly) NC_000002.12:88575030:T:C p.(Ser667Gly) NC_000002.12:88575030:T:C Identity +NM_003482.4:c.14512C>T NP_003473.3:p.Pro4838Ser NC_000012.12:49028011:G:A p.(Pro4838Ser) NC_000012.12:49028011:G:A p.(Pro4838Ser) NC_000012.12:49028011:G:A Identity +NM_005876.5:c.721G>A NP_005867.3:p.Ala241Thr NC_000002.12:219445066:G:A p.(Ala241Thr) NC_000002.12:219445066:G:A p.(Ala241Thr) NC_000002.12:219445066:G:A Identity +NM_001004426.3:c.1534C>G NP_001004426.1:p.Arg512Gly NC_000022.11:38120804:G:C p.(Arg512Gly) NC_000022.11:38120804:G:C p.(Arg512Gly) NC_000022.11:38120804:G:C Identity +NM_001305275.2:c.1019C>G NP_001292204.1:p.Pro340Arg NC_000001.11:1041543:C:G p.(Pro340Arg) NC_000001.11:1041543:C:G p.(Pro340Arg) NC_000001.11:1041543:C:G Identity +NM_001040436.3:c.1043G>A NP_001035526.1:p.Arg348Gln NC_000012.12:32750778:C:T p.(Arg348Gln) NC_000012.12:32750778:C:T p.(Arg348Gln) NC_000012.12:32750778:C:T Identity +NM_004064.5:c.377A>G NP_004055.1:p.Glu126Gly NC_000012.12:12718215:A:G p.(Glu126Gly) NC_000012.12:12718215:A:G p.(Glu126Gly) NC_000012.12:12718215:A:G Identity +NM_001174116.3:c.4379C>G NP_001167587.1:p.Thr1460Arg NC_000015.10:51498844:G:C p.(Thr1460Arg) NC_000015.10:51498844:G:C p.(Thr1460Arg) NC_000015.10:51498844:G:C Identity +NM_000271.5:c.3511A>G NP_000262.2:p.Ile1171Val NC_000018.10:23534525:T:C p.(Ile1171Val) NC_000018.10:23534525:T:C p.(Ile1171Val) NC_000018.10:23534525:T:C Identity +NM_001079843.3:c.4835C>T NP_001073312.1:p.Pro1612Leu NC_000001.11:10639386:G:A p.(Pro1612Leu) NC_000001.11:10639386:G:A p.(Pro1612Leu) NC_000001.11:10639386:G:A Identity +NM_001008844.3:c.3823A>G NP_001008844.1:p.Lys1275Glu NC_000006.12:7582881:A:G p.(Lys1275Glu) NC_000006.12:7582881:A:G p.(Lys1275Glu) NC_000006.12:7582881:A:G Identity +NM_001042494.2:c.2693A>C NP_001035959.1:p.Lys898Thr NC_000015.10:34237482:T:G p.(Lys898Thr) NC_000015.10:34237482:T:G p.(Lys898Thr) NC_000015.10:34237482:T:G Identity +NM_001379081.2:c.3547C>A NP_001366010.1:p.Leu1183Met NC_000009.12:14801798:G:T p.(Leu1183Met) NC_000009.12:14801798:G:T p.(Leu1183Met) NC_000009.12:14801798:G:T Identity +NM_001999.4:c.737C>T NP_001990.2:p.Ala246Val NC_000005.10:128464812:G:A p.(Ala246Val) NC_000005.10:128464812:G:A p.(Ala246Val) NC_000005.10:128464812:G:A Identity +NM_206933.4:c.14404T>G NP_996816.3:p.Ser4802Ala NC_000001.11:215648705:A:C p.(Ser4802Ala) NC_000001.11:215648705:A:C p.(Ser4802Ala) NC_000001.11:215648705:A:C Identity +NM_018946.4:c.190C>T NP_061819.2:p.Arg64Trp NC_000009.12:98060838:C:T p.(Arg64Trp) NC_000009.12:98060838:C:T p.(Arg64Trp) NC_000009.12:98060838:C:T Identity +NM_003737.4:c.1270G>T NP_003728.1:p.Val424Leu NC_000011.10:6640343:C:A p.(Val424Leu) NC_000011.10:6640343:C:A p.(Val424Leu) NC_000011.10:6640343:C:A Identity +NM_000203.5:c.241C>T NP_000194.2:p.Pro81Ser NC_000004.12:987890:C:T p.(Pro81Ser) NC_000004.12:987890:C:T p.(Pro81Ser) NC_000004.12:987890:C:T Identity +NM_001163022.3:c.1688A>G NP_001156494.1:p.Asp563Gly NC_000020.11:21246550:A:G p.(Asp563Gly) NC_000020.11:21246550:A:G p.(Asp563Gly) NC_000020.11:21246550:A:G Identity +NM_001006658.3:c.2035T>G NP_001006659.1:p.Phe679Val NC_000001.11:207473600:T:G p.(Phe679Val) NC_000001.11:207473600:T:G p.(Phe679Val) NC_000001.11:207473600:T:G Identity +NM_001127487.2:c.3025C>T NP_001120959.1:p.Arg1009Trp NC_000007.14:128844098:C:T p.(Arg1009Trp) NC_000007.14:128844098:C:T p.(Arg1009Trp) NC_000007.14:128844098:C:T Identity +NM_001008389.3:c.37G>A NP_001008390.1:p.Val13Met NC_000016.10:20350700:C:T p.(Val13Met) NC_000016.10:20350700:C:T p.(Val13Met) NC_000016.10:20350700:C:T Identity +NM_182972.3:c.1024A>G NP_892017.2:p.Asn342Asp NC_000001.11:234608470:T:C p.(Asn342Asp) NC_000001.11:234608470:T:C p.(Asn342Asp) NC_000001.11:234608470:T:C Identity +NM_001375397.1:c.191A>G NP_001362326.1:p.Lys64Arg NC_000006.12:53032619:T:C p.(Lys64Arg) NC_000006.12:53032619:T:C p.(Lys64Arg) NC_000006.12:53032619:T:C Identity +NM_001033053.3:c.289C>T NP_001028225.1:p.Pro97Ser NC_000017.11:5582828:G:A p.(Pro97Ser) NC_000017.11:5582828:G:A p.(Pro97Ser) NC_000017.11:5582828:G:A Identity +NM_001100913.3:c.2225C>T NP_001094383.2:p.Pro742Leu NC_000014.9:105391735:C:T p.(Pro742Leu) NC_000014.9:105391735:C:T p.(Pro742Leu) NC_000014.9:105391735:C:T Identity +NM_001369.3:c.10382T>C NP_001360.1:p.Val3461Ala NC_000005.10:13758882:A:G p.(Val3461Ala) NC_000005.10:13758882:A:G p.(Val3461Ala) NC_000005.10:13758882:A:G Identity +NM_005245.4:c.2245A>C NP_005236.2:p.Asn749His NC_000004.12:186707582:T:G p.(Asn749His) NC_000004.12:186707582:T:G p.(Asn749His) NC_000004.12:186707582:T:G Identity +NM_002291.3:c.3331G>C NP_002282.2:p.Gly1111Arg NC_000007.14:107951285:C:G p.(Gly1111Arg) NC_000007.14:107951285:C:G p.(Gly1111Arg) NC_000007.14:107951285:C:G Identity +NM_001256876.3:c.2279G>A NP_001243805.1:p.Gly760Asp NC_000009.12:713044:G:A p.(Gly760Asp) NC_000009.12:713044:G:A p.(Gly760Asp) NC_000009.12:713044:G:A Identity +NM_001012727.2:c.68C>T NP_001012745.1:p.Ala23Val NC_000009.12:136687289:G:A p.(Ala23Val) NC_000009.12:136687289:G:A p.(Ala23Val) NC_000009.12:136687289:G:A Identity +NM_001127891.3:c.758A>T NP_001121363.1:p.Asp253Val NC_000016.10:55488617:A:T p.(Asp253Val) NC_000016.10:55488617:A:T p.(Asp253Val) NC_000016.10:55488617:A:T Identity +NM_031935.3:c.6799T>C NP_114141.2:p.Tyr2267His NC_000001.11:186053922:T:C p.(Tyr2267His) NC_000001.11:186053922:T:C p.(Tyr2267His) NC_000001.11:186053922:T:C Identity +NM_001174116.3:c.1912C>G NP_001167587.1:p.Leu638Val NC_000015.10:51536567:G:C p.(Leu638Val) NC_000015.10:51536567:G:C p.(Leu638Val) NC_000015.10:51536567:G:C Identity +NM_004525.3:c.9367G>A NP_004516.2:p.Asp3123Asn NC_000002.12:169185980:C:T p.(Asp3123Asn) NC_000002.12:169185980:C:T p.(Asp3123Asn) NC_000002.12:169185980:C:T Identity +NM_001291285.3:c.4631G>A NP_001278214.1:p.Gly1544Asp NC_000004.12:125321041:G:A p.(Gly1544Asp) NC_000004.12:125321041:G:A p.(Gly1544Asp) NC_000004.12:125321041:G:A Identity +NM_001244189.2:c.812_822del NP_001231118.1:p.Asp271fs NC_000014.9:58444017:CTGATAAACACCTG:CTG p.(Asp271AlafsTer21) NC_000014.9:58444017:CTGATAAACACCTG:CTG p.(Asp271AlafsTer21) NC_000014.9:58444020:ATAAACACCTG: Analogous +NM_001164317.2:c.2864G>A NP_001157789.1:p.Arg955Lys NC_000003.12:58121240:G:A p.(Arg955Lys) NC_000003.12:58121240:G:A p.(Arg955Lys) NC_000003.12:58121240:G:A Identity +NM_001354689.3:c.169A>G NP_001341618.1:p.Thr57Ala NC_000003.12:12618552:T:C p.(Thr57Ala) NC_000003.12:12618552:T:C p.(Thr57Ala) NC_000003.12:12618552:T:C Identity +NM_001164097.2:c.5416A>G NP_001157569.1:p.Thr1806Ala NC_000005.10:83541379:A:G p.(Thr1806Ala) NC_000005.10:83541379:A:G p.(Thr1806Ala) NC_000005.10:83541379:A:G Identity +NM_001291411.2:c.3868G>A NP_001278340.2:p.Ala1290Thr NC_000021.9:33553098:G:A p.(Ala1290Thr) NC_000021.9:33553098:G:A p.(Ala1290Thr) NC_000021.9:33553098:G:A Identity +NM_001099400.2:c.583C>T NP_001092870.1:p.Arg195Cys NC_000007.14:94618836:G:A p.(Arg195Cys) NC_000007.14:94618836:G:A p.(Arg195Cys) NC_000007.14:94618836:G:A Identity +NM_001271933.2:c.2618A>C NP_001258862.1:p.Glu873Ala NC_000011.10:117393118:A:C p.(Glu873Ala) NC_000011.10:117393118:A:C p.(Glu873Ala) NC_000011.10:117393118:A:C Identity +NM_000350.3:c.257C>T NP_000341.2:p.Thr86Ile NC_000001.11:94111482:G:A p.(Thr86Ile) NC_000001.11:94111482:G:A p.(Thr86Ile) NC_000001.11:94111482:G:A Identity +NM_000632.4:c.926G>A NP_000623.2:p.Arg309His NC_000016.10:31275615:G:A p.(Arg309His) NC_000016.10:31275615:G:A p.(Arg309His) NC_000016.10:31275615:G:A Identity +NM_001177704.3:c.568C>T NP_001171175.1:p.Arg190Cys NC_000009.12:14770703:G:A p.(Arg190Cys) NC_000009.12:14770703:G:A p.(Arg190Cys) NC_000009.12:14770703:G:A Identity +NM_001199799.2:c.805C>T NP_001186728.1:p.Gln269Ter NC_000003.12:121993943:G:A p.(Gln269Ter) NC_000003.12:121993943:G:A p.(Gln269Ter) NC_000003.12:121993943:G:A Identity +NM_001376929.1:c.491T>G NP_001363858.1:p.Met164Arg NC_000001.11:219927065:A:C p.(Met164Arg) NC_000001.11:219927065:A:C p.(Met164Arg) NC_000001.11:219927065:A:C Identity +NM_032119.4:c.18283G>A NP_115495.3:p.Val6095Ile NC_000005.10:91072576:G:A p.(Val6095Ile) NC_000005.10:91072576:G:A p.(Val6095Ile) NC_000005.10:91072576:G:A Identity +NM_000222.3:c.2150G>T NP_000213.1:p.Ser717Ile NC_000004.12:54731335:G:T p.(Ser717Ile) NC_000004.12:54731335:G:T p.(Ser717Ile) NC_000004.12:54731335:G:T Identity +NM_005914.4:c.778G>A NP_005905.2:p.Val260Ile NC_000008.11:47964657:G:A p.(Val260Ile) NC_000008.11:47964657:G:A p.(Val260Ile) NC_000008.11:47964657:G:A Identity +NM_001161357.2:c.2324G>A NP_001154829.1:p.Arg775Gln NC_000019.10:17784821:G:A p.(Arg775Gln) NC_000019.10:17784821:G:A p.(Arg775Gln) NC_000019.10:17784821:G:A Identity +NM_000540.3:c.5480G>A NP_000531.2:p.Arg1827His NC_000019.10:38486134:G:A p.(Arg1827His) NC_000019.10:38486134:G:A p.(Arg1827His) NC_000019.10:38486134:G:A Identity +NM_001031689.3:c.2273A>G NP_001026859.1:p.Asn758Ser NC_000009.12:26905625:T:C p.(Asn758Ser) NC_000009.12:26905625:T:C p.(Asn758Ser) NC_000009.12:26905625:T:C Identity +NM_001942.4:c.725G>A NP_001933.2:p.Arg242Gln NC_000018.10:31333628:G:A p.(Arg242Gln) NC_000018.10:31333628:G:A p.(Arg242Gln) NC_000018.10:31333628:G:A Identity +NM_001128931.2:c.64G>C NP_001122403.1:p.Gly22Arg NC_000004.12:163166663:C:G p.(Gly22Arg) NC_000004.12:163166663:C:G p.(Gly22Arg) NC_000004.12:163166663:C:G Identity +NM_001178098.2:c.94G>A NP_001171569.1:p.Asp32Asn NC_000016.10:28932350:G:A p.(Asp32Asn) NC_000016.10:28932350:G:A p.(Asp32Asn) NC_000016.10:28932350:G:A Identity +NM_000807.4:c.120C>G NP_000798.2:p.Thr40= NC_000004.12:46386140:G:C p.(Thr40=) NC_000004.12:46386140:G:C p.(Thr40=) NC_000004.12:46386140:G:C Identity +NM_021154.5:c.425T>G NP_066977.1:p.Leu142Arg NC_000009.12:78306340:T:G p.(Leu142Arg) NC_000009.12:78306340:T:G p.(Leu142Arg) NC_000009.12:78306340:T:G Identity +NM_145014.3:c.766C>G NP_659451.1:p.Gln256Glu NC_000011.10:125900133:C:G p.(Gln256Glu) NC_000011.10:125900133:C:G p.(Gln256Glu) NC_000011.10:125900133:C:G Identity +NM_001271052.1:c.205_207del NP_001257981.1:p.Asn69del NC_000019.10:14772489:GTTG:G p.(Asn69del) NC_000019.10:14772489:GTTG:G p.(Asn69del) NC_000019.10:14772489:GTT: Identity +NM_000428.3:c.712C>T NP_000419.1:p.Arg238Cys NC_000014.9:74585971:G:A p.(Arg238Cys) NC_000014.9:74585971:G:A p.(Arg238Cys) NC_000014.9:74585971:G:A Identity +NM_001407296.1:c.3445T>A NP_001394225.1:p.Ser1149Thr NC_000016.10:23603514:A:T p.(Ser1149Thr) NC_000016.10:23603514:A:T p.(Ser1149Thr) NC_000016.10:23603514:A:T Identity +NM_015202.5:c.1553G>A NP_056017.4:p.Arg518Gln NC_000016.10:27708867:G:A p.(Arg518Gln) NC_000016.10:27708867:G:A p.(Arg518Gln) NC_000016.10:27708867:G:A Identity +NM_004370.6:c.4040C>T NP_004361.3:p.Ala1347Val NC_000006.12:75151247:G:A p.(Ala1347Val) NC_000006.12:75151247:G:A p.(Ala1347Val) NC_000006.12:75151247:G:A Identity +NM_001378120.1:c.742G>A NP_001365049.1:p.Asp248Asn NC_000002.12:148468684:G:A p.(Asp248Asn) NC_000002.12:148468684:G:A p.(Asp248Asn) NC_000002.12:148468684:G:A Identity +NM_000493.4:c.1970C>A NP_000484.2:p.Ala657Asp NC_000006.12:116120145:G:T p.(Ala657Asp) NC_000006.12:116120145:G:T p.(Ala657Asp) NC_000006.12:116120145:G:T Identity +NM_004463.3:c.772G>A NP_004454.2:p.Glu258Lys NC_000023.11:54470344:C:T p.(Glu258Lys) NC_000023.11:54470344:C:T p.(Glu258Lys) NC_000023.11:54470344:C:T Identity +NM_001025616.3:c.278G>A NP_001020787.2:p.Arg93Gln NC_000004.12:85923656:G:A p.(Arg93Gln) NC_000004.12:85923656:G:A p.(Arg93Gln) NC_000004.12:85923656:G:A Identity +NM_001370490.1:c.14G>T NP_001357419.1:p.Gly5Val NC_000016.10:19067677:G:T p.(Gly5Val) NC_000016.10:19067677:G:T p.(Gly5Val) NC_000016.10:19067677:G:T Identity +NM_001318860.2:c.275T>C NP_001305789.1:p.Phe92Ser NC_000002.12:73950706:T:C p.(Phe92Ser) NC_000002.12:73950706:T:C p.(Phe92Ser) NC_000002.12:73950706:T:C Identity +NM_000260.4:c.6284A>C NP_000251.3:p.Glu2095Ala NC_000011.10:77211866:A:C p.(Glu2095Ala) NC_000011.10:77211866:A:C p.(Glu2095Ala) NC_000011.10:77211866:A:C Identity +NM_001363850.1:c.2140_2141del NP_001350779.1:p.Thr714fs NC_000016.10:89554517:ACACAC:ACAC p.(Thr714ArgfsTer49) NC_000016.10:89554517:ACACAC:ACAC p.(Thr714ArgfsTer49) NC_000016.10:89554521:AC: Analogous +NM_001079878.2:c.1058C>T NP_001073347.1:p.Pro353Leu NC_000002.12:98396281:C:T p.(Pro353Leu) NC_000002.12:98396281:C:T p.(Pro353Leu) NC_000002.12:98396281:C:T Identity +NM_001031689.3:c.557C>T NP_001026859.1:p.Thr186Ile NC_000009.12:26928107:G:A p.(Thr186Ile) NC_000009.12:26928107:G:A p.(Thr186Ile) NC_000009.12:26928107:G:A Identity +NM_001193307.2:c.1025T>C NP_001180236.1:p.Phe342Ser NC_000007.14:93105072:A:G p.(Phe342Ser) NC_000007.14:93105072:A:G p.(Phe342Ser) NC_000007.14:93105072:A:G Identity +NM_001999.4:c.4271A>C NP_001990.2:p.Gln1424Pro NC_000005.10:128330646:T:G p.(Gln1424Pro) NC_000005.10:128330646:T:G p.(Gln1424Pro) NC_000005.10:128330646:T:G Identity +NM_001164507.2:c.2338G>A NP_001157979.2:p.Glu780Lys NC_000002.12:151688368:C:T p.(Glu780Lys) NC_000002.12:151688368:C:T p.(Glu780Lys) NC_000002.12:151688368:C:T Identity +NM_001256850.1:c.62827del NP_001243779.1:p.Trp20943fs NC_000002.12:178579279:A: p.(Trp20943GlyfsTer8) NC_000002.12:178579279:A: p.(Trp20943GlyfsTer8) NC_000002.12:178579279:A: Analogous +NM_001199138.2:c.307C>T NP_001186067.1:p.Gln103Ter NC_000002.12:32251556:G:A p.(Gln103Ter) NC_000002.12:32251556:G:A p.(Gln103Ter) NC_000002.12:32251556:G:A Identity +NM_001171.6:c.1369G>A NP_001162.5:p.Ala457Thr NC_000016.10:16192891:C:T p.(Ala457Thr) NC_000016.10:16192891:C:T p.(Ala457Thr) NC_000016.10:16192891:C:T Identity +NM_001040610.3:c.2192C>T NP_001035700.1:p.Ser731Phe NC_000015.10:82152108:G:A p.(Ser731Phe) NC_000015.10:82152108:G:A p.(Ser731Phe) NC_000015.10:82152108:G:A Identity +NM_006059.4:c.739G>A NP_006050.3:p.Asp247Asn NC_000009.12:131032104:G:A p.(Asp247Asn) NC_000009.12:131032104:G:A p.(Asp247Asn) NC_000009.12:131032104:G:A Identity +NM_001261826.3:c.1348G>A NP_001248755.1:p.Ala450Thr NC_000019.10:2120994:C:T p.(Ala450Thr) NC_000019.10:2120994:C:T p.(Ala450Thr) NC_000019.10:2120994:C:T Identity +NM_001102406.2:c.952C>A NP_001095876.1:p.Pro318Thr NC_000004.12:112430498:C:A p.(Pro318Thr) NC_000004.12:112430498:C:A p.(Pro318Thr) NC_000004.12:112430498:C:A Identity +NM_033071.5:c.19738A>C NP_149062.2:p.Ile6580Leu NC_000006.12:152239648:T:G p.(Ile6580Leu) NC_000006.12:152239648:T:G p.(Ile6580Leu) NC_000006.12:152239648:T:G Identity +NM_001256876.3:c.2761C>G NP_001243805.1:p.Gln921Glu NC_000009.12:730112:C:G p.(Gln921Glu) NC_000009.12:730112:C:G p.(Gln921Glu) NC_000009.12:730112:C:G Identity +NM_001350253.1:c.382A>G NP_001337182.1:p.Lys128Glu NC_000014.9:60979599:T:C p.(Lys128Glu) NC_000014.9:60979599:T:C p.(Lys128Glu) NC_000014.9:60979599:T:C Identity +NM_000396.4:c.154A>G NP_000387.1:p.Lys52Glu NC_000001.11:150806190:T:C p.(Lys52Glu) NC_000001.11:150806190:T:C p.(Lys52Glu) NC_000001.11:150806190:T:C Identity +NM_002335.4:c.413A>G NP_002326.2:p.Asn138Ser NC_000011.10:68348167:A:G p.(Asn138Ser) NC_000011.10:68348167:A:G p.(Asn138Ser) NC_000011.10:68348167:A:G Identity +NM_001079843.3:c.977G>T NP_001073312.1:p.Arg326Leu NC_000001.11:10660064:C:A p.(Arg326Leu) NC_000001.11:10660064:C:A p.(Arg326Leu) NC_000001.11:10660064:C:A Identity +NM_015425.6:c.2323G>A NP_056240.2:p.Gly775Ser NC_000002.12:86052885:C:T p.(Gly775Ser) NC_000002.12:86052885:C:T p.(Gly775Ser) NC_000002.12:86052885:C:T Identity +NM_003737.4:c.424G>A NP_003728.1:p.Ala142Thr NC_000011.10:6641189:C:T p.(Ala142Thr) NC_000011.10:6641189:C:T p.(Ala142Thr) NC_000011.10:6641189:C:T Identity +NM_001160708.2:c.7G>A NP_001154180.1:p.Ala3Thr NC_000012.12:106366675:G:A p.(Ala3Thr) NC_000012.12:106366675:G:A p.(Ala3Thr) NC_000012.12:106366675:G:A Identity +NM_006014.5:c.306G>T NP_006005.2:p.Arg102Ser NC_000023.11:154478293:C:A p.(Arg102Ser) NC_000023.11:154478293:C:A p.(Arg102Ser) NC_000023.11:154478293:C:A Identity +NM_000782.5:c.1519C>A NP_000773.2:p.Leu507Ile NC_000020.11:54157204:G:T p.(Leu507Ile) NC_000020.11:54157204:G:T p.(Leu507Ile) NC_000020.11:54157204:G:T Identity +NM_017617.5:c.4927G>C NP_060087.3:p.Ala1643Pro NC_000009.12:136504763:C:G p.(Ala1643Pro) NC_000009.12:136504763:C:G p.(Ala1643Pro) NC_000009.12:136504763:C:G Identity +NM_001165962.2:c.283A>G NP_001159434.1:p.Met95Val NC_000017.11:13017083:T:C p.(Met95Val) NC_000017.11:13017083:T:C p.(Met95Val) NC_000017.11:13017083:T:C Identity +NM_000445.5:c.4832C>T NP_000436.2:p.Ser1611Phe NC_000008.11:143925177:G:A p.(Ser1611Phe) NC_000008.11:143925177:G:A p.(Ser1611Phe) NC_000008.11:143925177:G:A Identity +NM_015180.6:c.6173A>G NP_055995.4:p.Lys2058Arg NC_000014.9:64025341:A:G p.(Lys2058Arg) NC_000014.9:64025341:A:G p.(Lys2058Arg) NC_000014.9:64025341:A:G Identity +NM_001321431.2:c.4036C>T NP_001308360.1:p.Arg1346Cys NC_000019.10:8111695:G:A p.(Arg1346Cys) NC_000019.10:8111695:G:A p.(Arg1346Cys) NC_000019.10:8111695:G:A Identity +NM_001195227.2:c.1669G>A NP_001182156.1:p.Ala557Thr NC_000019.10:49183137:G:A p.(Ala557Thr) NC_000019.10:49183137:G:A p.(Ala557Thr) NC_000019.10:49183137:G:A Identity +NM_003906.5:c.1822C>T NP_003897.2:p.Arg608Cys NC_000021.9:46277562:G:A p.(Arg608Cys) NC_000021.9:46277562:G:A p.(Arg608Cys) NC_000021.9:46277562:G:A Identity +NM_022049.3:c.788C>G NP_071332.2:p.Ala263Gly NC_000001.11:100539753:C:G p.(Ala263Gly) NC_000001.11:100539753:C:G p.(Ala263Gly) NC_000001.11:100539753:C:G Identity +NM_001291997.2:c.730G>A NP_001278926.1:p.Ala244Thr NC_000016.10:79211619:G:A p.(Ala244Thr) NC_000016.10:79211619:G:A p.(Ala244Thr) NC_000016.10:79211619:G:A Identity +NM_000494.4:c.2903_2904inv NP_000485.3:p.Pro968Leu NC_000010.11:104039113:TG:CA p.(Pro968Leu) NC_000010.11:104039113:TG:CA p.(Pro968Leu) ERR:SPDI Identity +NM_001002019.3:c.713T>C NP_001002019.1:p.Met238Thr NC_000012.12:131941543:T:C p.(Met238Thr) NC_000012.12:131941543:T:C p.(Met238Thr) NC_000012.12:131941543:T:C Identity +NM_001164665.2:c.1174G>A NP_001158137.1:p.Glu392Lys NC_000007.14:138918451:C:T p.(Glu392Lys) NC_000007.14:138918451:C:T p.(Glu392Lys) NC_000007.14:138918451:C:T Identity +NM_001845.6:c.1606G>A NP_001836.3:p.Asp536Asn NC_000013.11:110187259:C:T p.(Asp536Asn) NC_000013.11:110187259:C:T p.(Asp536Asn) NC_000013.11:110187259:C:T Identity +NM_001368263.1:c.344A>G NP_001355192.1:p.Gln115Arg NC_000003.12:45400353:A:G p.(Gln115Arg) NC_000003.12:45400353:A:G p.(Gln115Arg) NC_000003.12:45400353:A:G Identity +NM_001256182.2:c.6680C>T NP_001243111.1:p.Pro2227Leu NC_000016.10:89279861:G:A p.(Pro2227Leu) NC_000016.10:89279861:G:A p.(Pro2227Leu) NC_000016.10:89279861:G:A Identity +NM_001040436.3:c.688T>C NP_001035526.1:p.Tyr230His NC_000012.12:32755186:A:G p.(Tyr230His) NC_000012.12:32755186:A:G p.(Tyr230His) NC_000012.12:32755186:A:G Identity +NM_022124.6:c.4797C>G NP_071407.4:p.Phe1599Leu NC_000010.11:71741872:C:G p.(Phe1599Leu) NC_000010.11:71741872:C:G p.(Phe1599Leu) NC_000010.11:71741872:C:G Identity +NM_001411043.1:c.619G>A NP_001397972.1:p.Val207Met NC_000011.10:124923818:C:T p.(Val207Met) NC_000011.10:124923818:C:T p.(Val207Met) NC_000011.10:124923818:C:T Identity +NM_173630.4:c.19A>G NP_775901.3:p.Ile7Val NC_000018.10:70205639:T:C p.(Ile7Val) NC_000018.10:70205639:T:C p.(Ile7Val) NC_000018.10:70205639:T:C Identity +NM_005559.4:c.3430C>T NP_005550.2:p.Pro1144Ser NC_000018.10:7012071:G:A p.(Pro1144Ser) NC_000018.10:7012071:G:A p.(Pro1144Ser) NC_000018.10:7012071:G:A Identity +NM_001128148.3:c.155C>G NP_001121620.1:p.Thr52Arg NC_000003.12:196075241:G:C p.(Thr52Arg) NC_000003.12:196075241:G:C p.(Thr52Arg) NC_000003.12:196075241:G:C Identity +NM_014510.3:c.11541A>G NP_055325.2:p.Ile3847Met NC_000007.14:82916444:T:C p.(Ile3847Met) NC_000007.14:82916444:T:C p.(Ile3847Met) NC_000007.14:82916444:T:C Identity +NM_000271.5:c.1231C>T NP_000262.2:p.Arg411Trp NC_000018.10:23556337:G:A p.(Arg411Trp) NC_000018.10:23556337:G:A p.(Arg411Trp) NC_000018.10:23556337:G:A Identity +NM_016107.5:c.1510T>A NP_057191.2:p.Phe504Ile NC_000005.10:32403111:A:T p.(Phe504Ile) NC_000005.10:32403111:A:T p.(Phe504Ile) NC_000005.10:32403111:A:T Identity +NM_015346.4:c.5875T>G NP_056161.2:p.Cys1959Gly NC_000014.9:67766362:A:C p.(Cys1959Gly) NC_000014.9:67766362:A:C p.(Cys1959Gly) NC_000014.9:67766362:A:C Identity +NM_015909.4:c.3217C>A NP_056993.2:p.Arg1073Ser NC_000002.12:15394266:G:T p.(Arg1073Ser) NC_000002.12:15394266:G:T p.(Arg1073Ser) NC_000002.12:15394266:G:T Identity +NM_000260.4:c.1525C>T NP_000251.3:p.Leu509Phe NC_000011.10:77162300:C:T p.(Leu509Phe) NC_000011.10:77162300:C:T p.(Leu509Phe) NC_000011.10:77162300:C:T Identity +NM_001081640.2:c.10391A>C NP_001075109.1:p.Lys3464Thr NC_000008.11:47798303:T:G p.(Lys3464Thr) NC_000008.11:47798303:T:G p.(Lys3464Thr) NC_000008.11:47798303:T:G Identity +NM_001035.3:c.3401C>A NP_001026.2:p.Ala1134Asp NC_000001.11:237566752:C:A p.(Ala1134Asp) NC_000001.11:237566752:C:A p.(Ala1134Asp) NC_000001.11:237566752:C:A Identity +NM_001166292.2:c.1795A>G NP_001159764.1:p.Thr599Ala NC_000001.11:44828105:T:C p.(Thr599Ala) NC_000001.11:44828105:T:C p.(Thr599Ala) NC_000001.11:44828105:T:C Identity +NM_032119.4:c.10686C>A NP_115495.3:p.Ser3562Arg NC_000005.10:90745181:C:A p.(Ser3562Arg) NC_000005.10:90745181:C:A p.(Ser3562Arg) NC_000005.10:90745181:C:A Identity +NM_005012.4:c.1463A>G NP_005003.2:p.Tyr488Cys NC_000001.11:64177503:A:G p.(Tyr488Cys) NC_000001.11:64177503:A:G p.(Tyr488Cys) NC_000001.11:64177503:A:G Identity +NM_001363227.2:c.1849G>A NP_001350156.1:p.Val617Met NC_000008.11:43199422:G:A p.(Val617Met) NC_000008.11:43199422:G:A p.(Val617Met) NC_000008.11:43199422:G:A Identity +NM_000350.3:c.2153T>A NP_000341.2:p.Phe718Tyr NC_000001.11:94060543:A:T p.(Phe718Tyr) NC_000001.11:94060543:A:T p.(Phe718Tyr) NC_000001.11:94060543:A:T Identity +NM_005045.4:c.8812G>A NP_005036.2:p.Val2938Ile NC_000007.14:103498107:C:T p.(Val2938Ile) NC_000007.14:103498107:C:T p.(Val2938Ile) NC_000007.14:103498107:C:T Identity +NM_000160.5:c.286G>A NP_000151.1:p.Val96Met NC_000017.11:81811023:G:A p.(Val96Met) NC_000017.11:81811023:G:A p.(Val96Met) NC_000017.11:81811023:G:A Identity +NM_015909.4:c.460G>A NP_056993.2:p.Gly154Arg NC_000002.12:15539275:C:T p.(Gly154Arg) NC_000002.12:15539275:C:T p.(Gly154Arg) NC_000002.12:15539275:C:T Identity +NM_001142301.1:c.1021C>T NP_001135773.1:p.His341Tyr NC_000008.11:93785353:C:T p.(His341Tyr) NC_000008.11:93785353:C:T p.(His341Tyr) NC_000008.11:93785353:C:T Identity +NM_000170.3:c.1801G>C NP_000161.2:p.Asp601His NC_000009.12:6587189:C:G p.(Asp601His) NC_000009.12:6587189:C:G p.(Asp601His) NC_000009.12:6587189:C:G Identity +NM_016239.4:c.4897A>T NP_057323.3:p.Ile1633Leu NC_000017.11:18138135:A:T p.(Ile1633Leu) NC_000017.11:18138135:A:T p.(Ile1633Leu) NC_000017.11:18138135:A:T Identity +NM_005120.3:c.6371C>T NP_005111.2:p.Ala2124Val NC_000023.11:71141332:C:T p.(Ala2124Val) NC_000023.11:71141332:C:T p.(Ala2124Val) NC_000023.11:71141332:C:T Identity +NM_001330504.2:c.540C>G NP_001317433.1:p.Asp180Glu NC_000016.10:5079073:C:G p.(Asp180Glu) NC_000016.10:5079073:C:G p.(Asp180Glu) NC_000016.10:5079073:C:G Identity +NM_001365999.1:c.721A>C NP_001352928.1:p.Ile241Leu NC_000001.11:43416049:A:C p.(Ile241Leu) NC_000001.11:43416049:A:C p.(Ile241Leu) NC_000001.11:43416049:A:C Identity +NM_001044385.3:c.1051G>A NP_001037850.1:p.Glu351Lys NC_000002.12:201626133:C:T p.(Glu351Lys) NC_000002.12:201626133:C:T p.(Glu351Lys) NC_000002.12:201626133:C:T Identity +NM_145046.5:c.587T>C NP_659483.2:p.Ile196Thr NC_000019.10:16484020:A:G p.(Ile196Thr) NC_000019.10:16484020:A:G p.(Ile196Thr) NC_000019.10:16484020:A:G Identity +NM_018117.12:c.3304C>G NP_060587.8:p.Pro1102Ala NC_000010.11:120905887:C:G p.(Pro1102Ala) NC_000010.11:120905887:C:G p.(Pro1102Ala) NC_000010.11:120905887:C:G Identity +NM_001301012.2:c.86C>G NP_001287941.1:p.Ser29Cys NC_000006.12:133446631:C:G p.(Ser29Cys) NC_000006.12:133446631:C:G p.(Ser29Cys) NC_000006.12:133446631:C:G Identity +NM_001271052.1:c.1905C>A NP_001257981.1:p.Cys635Ter NC_000019.10:14746907:G:T p.(Cys635Ter) NC_000019.10:14746907:G:T p.(Cys635Ter) NC_000019.10:14746907:G:T Identity +NM_001068.3:c.2267G>A NP_001059.2:p.Arg756His NC_000003.12:25624745:C:T p.(Arg756His) NC_000003.12:25624745:C:T p.(Arg756His) NC_000003.12:25624745:C:T Identity +NM_001164773.2:c.595G>A NP_001158245.1:p.Val199Ile NC_000019.10:48796989:C:T p.(Val199Ile) NC_000019.10:48796989:C:T p.(Val199Ile) NC_000019.10:48796989:C:T Identity +NM_013432.5:c.823A>T NP_038460.4:p.Lys275Ter NC_000008.11:144442078:T:A p.(Lys275Ter) NC_000008.11:144442078:T:A p.(Lys275Ter) NC_000008.11:144442078:T:A Identity +NM_001379141.1:c.3118T>C NP_001366070.1:p.Tyr1040His NC_000018.10:44952457:T:C p.(Tyr1040His) NC_000018.10:44952457:T:C p.(Tyr1040His) NC_000018.10:44952457:T:C Identity +NM_000497.4:c.1303G>A NP_000488.3:p.Gly435Ser NC_000008.11:142875051:C:T p.(Gly435Ser) NC_000008.11:142875051:C:T p.(Gly435Ser) NC_000008.11:142875051:C:T Identity +NM_001042383.2:c.137G>A NP_001035842.1:p.Arg46His NC_000003.12:134507200:G:A p.(Arg46His) NC_000003.12:134507200:G:A p.(Arg46His) NC_000003.12:134507200:G:A Identity +NM_001164507.2:c.24754A>G NP_001157979.2:p.Asn8252Asp NC_000002.12:151493363:T:C p.(Asn8252Asp) NC_000002.12:151493363:T:C p.(Asn8252Asp) NC_000002.12:151493363:T:C Identity +NM_001041.4:c.4505A>G NP_001032.2:p.Tyr1502Cys NC_000003.12:164998574:T:C p.(Tyr1502Cys) NC_000003.12:164998574:T:C p.(Tyr1502Cys) NC_000003.12:164998574:T:C Identity +NM_001261406.2:c.1021C>T NP_001248335.1:p.Arg341Cys NC_000009.12:13219623:G:A p.(Arg341Cys) NC_000009.12:13219623:G:A p.(Arg341Cys) NC_000009.12:13219623:G:A Identity +NM_001197104.2:c.2062T>G NP_001184033.1:p.Phe688Val NC_000011.10:118473220:T:G p.(Phe688Val) NC_000011.10:118473220:T:G p.(Phe688Val) NC_000011.10:118473220:T:G Identity +NM_001033855.3:c.2032G>A NP_001029027.1:p.Glu678Lys NC_000010.11:14908454:C:T p.(Glu678Lys) NC_000010.11:14908454:C:T p.(Glu678Lys) NC_000010.11:14908454:C:T Identity +NM_001350748.2:c.3527G>A NP_001337677.1:p.Gly1176Glu NC_000013.11:101089711:C:T p.(Gly1176Glu) NC_000013.11:101089711:C:T p.(Gly1176Glu) NC_000013.11:101089711:C:T Identity +NM_001178098.2:c.1267A>G NP_001171569.1:p.Asn423Asp NC_000016.10:28937338:A:G p.(Asn423Asp) NC_000016.10:28937338:A:G p.(Asn423Asp) NC_000016.10:28937338:A:G Identity +NM_001142800.2:c.6634G>C NP_001136272.1:p.Val2212Leu NC_000006.12:64066428:C:G p.(Val2212Leu) NC_000006.12:64066428:C:G p.(Val2212Leu) NC_000006.12:64066428:C:G Identity +NM_017890.5:c.12045dup NP_060360.3:p.Ala4016fs NC_000008.11:99875639:AAA:AAAA p.(Ala4016SerfsTer12) NC_000008.11:99875639:AAA:AAAA p.(Ala4016SerfsTer12) ERR:SPDI Analogous +NM_014014.5:c.5692C>T NP_054733.2:p.His1898Tyr NC_000002.12:96277868:G:A p.(His1898Tyr) NC_000002.12:96277868:G:A p.(His1898Tyr) NC_000002.12:96277868:G:A Identity +NM_001165962.2:c.1519C>A NP_001159434.1:p.Leu507Met NC_000017.11:12996566:G:T p.(Leu507Met) NC_000017.11:12996566:G:T p.(Leu507Met) NC_000017.11:12996566:G:T Identity +NM_017613.4:c.85C>T NP_060083.1:p.Arg29Cys NC_000021.9:33588556:G:A p.(Arg29Cys) NC_000021.9:33588556:G:A p.(Arg29Cys) NC_000021.9:33588556:G:A Identity +NM_005733.3:c.1900A>C NP_005724.1:p.Thr634Pro NC_000005.10:138185170:A:C p.(Thr634Pro) NC_000005.10:138185170:A:C p.(Thr634Pro) NC_000005.10:138185170:A:C Identity +NM_004453.4:c.43T>A NP_004444.2:p.Cys15Ser NC_000004.12:158680474:T:A p.(Cys15Ser) NC_000004.12:158680474:T:A p.(Cys15Ser) NC_000004.12:158680474:T:A Identity +NM_001135639.2:c.762G>T NP_001129111.1:p.Arg254Ser NC_000016.10:57958484:C:A p.(Arg254Ser) NC_000016.10:57958484:C:A p.(Arg254Ser) NC_000016.10:57958484:C:A Identity +NM_001378454.1:c.11688C>A NP_001365383.1:p.Asn3896Lys NC_000002.12:73600696:C:A p.(Asn3896Lys) NC_000002.12:73600696:C:A p.(Asn3896Lys) NC_000002.12:73600696:C:A Identity +NM_001318520.2:c.1193G>T NP_001305449.1:p.Arg398Leu NC_000018.10:70092778:C:A p.(Arg398Leu) NC_000018.10:70092778:C:A p.(Arg398Leu) NC_000018.10:70092778:C:A Identity +NM_001304481.2:c.652G>T NP_001291410.1:p.Asp218Tyr NC_000012.12:32582263:G:T p.(Asp218Tyr) NC_000012.12:32582263:G:T p.(Asp218Tyr) NC_000012.12:32582263:G:T Identity +NM_032119.4:c.1969A>C NP_115495.3:p.Asn657His NC_000005.10:90635242:A:C p.(Asn657His) NC_000005.10:90635242:A:C p.(Asn657His) NC_000005.10:90635242:A:C Identity +NM_000562.3:c.1729C>T NP_000553.1:p.Arg577Trp NC_000001.11:56917689:C:T p.(Arg577Trp) NC_000001.11:56917689:C:T p.(Arg577Trp) NC_000001.11:56917689:C:T Identity +NM_001204830.2:c.152T>C NP_001191759.1:p.Ile51Thr NC_000002.12:99162108:T:C p.(Ile51Thr) NC_000002.12:99162108:T:C p.(Ile51Thr) NC_000002.12:99162108:T:C Identity +NM_014244.5:c.2626T>C NP_055059.2:p.Phe876Leu NC_000005.10:179126121:A:G p.(Phe876Leu) NC_000005.10:179126121:A:G p.(Phe876Leu) NC_000005.10:179126121:A:G Identity +NM_017813.5:c.377C>G NP_060283.3:p.Pro126Arg NC_000008.11:56993208:G:C p.(Pro126Arg) NC_000008.11:56993208:G:C p.(Pro126Arg) NC_000008.11:56993208:G:C Identity +NM_133497.4:c.259G>A NP_598004.1:p.Glu87Lys NC_000009.12:2717997:G:A p.(Glu87Lys) NC_000009.12:2717997:G:A p.(Glu87Lys) NC_000009.12:2717997:G:A Identity +NM_006662.3:c.8453C>T NP_006653.2:p.Pro2818Leu NC_000016.10:30738492:C:T p.(Pro2818Leu) NC_000016.10:30738492:C:T p.(Pro2818Leu) NC_000016.10:30738492:C:T Identity +NM_001278431.2:c.379C>A NP_001265360.1:p.Arg127Ser NC_000011.10:119339683:G:T p.(Arg127Ser) NC_000011.10:119339683:G:T p.(Arg127Ser) NC_000011.10:119339683:G:T Identity +NM_000098.3:c.88G>C NP_000089.1:p.Gly30Arg NC_000001.11:53197030:G:C p.(Gly30Arg) NC_000001.11:53197030:G:C p.(Gly30Arg) NC_000001.11:53197030:G:C Identity +NM_001321431.2:c.3343G>A NP_001308360.1:p.Asp1115Asn NC_000019.10:8117583:C:T p.(Asp1115Asn) NC_000019.10:8117583:C:T p.(Asp1115Asn) NC_000019.10:8117583:C:T Identity +NM_173630.4:c.1501A>G NP_775901.3:p.Met501Val NC_000018.10:70169042:T:C p.(Met501Val) NC_000018.10:70169042:T:C p.(Met501Val) NC_000018.10:70169042:T:C Identity +NM_001378454.1:c.8143A>G NP_001365383.1:p.Ile2715Val NC_000002.12:73490101:A:G p.(Ile2715Val) NC_000002.12:73490101:A:G p.(Ile2715Val) NC_000002.12:73490101:A:G Identity +NM_000462.5:c.836G>A NP_000453.2:p.Arg279Gln NC_000015.10:25371346:C:T p.(Arg279Gln) NC_000015.10:25371346:C:T p.(Arg279Gln) NC_000015.10:25371346:C:T Identity +NM_001190241.2:c.308A>C NP_001177170.1:p.Asp103Ala NC_000003.12:160356070:T:G p.(Asp103Ala) NC_000003.12:160356070:T:G p.(Asp103Ala) NC_000003.12:160356070:T:G Identity +NM_005262.3:c.42C>G NP_005253.3:p.Asn14Lys NC_000016.10:1984259:C:G p.(Asn14Lys) NC_000016.10:1984259:C:G p.(Asn14Lys) NC_000016.10:1984259:C:G Identity +NM_001320632.2:c.167C>T NP_001307561.1:p.Thr56Met NC_000002.12:127070814:G:A p.(Thr56Met) NC_000002.12:127070814:G:A p.(Thr56Met) NC_000002.12:127070814:G:A Identity +NM_001171933.1:c.1585G>A NP_001165404.1:p.Ala529Thr NC_000010.11:71807402:G:A p.(Ala529Thr) NC_000010.11:71807402:G:A p.(Ala529Thr) NC_000010.11:71807402:G:A Identity +NM_001347827.2:c.1073A>C NP_001334756.1:p.Glu358Ala NC_000004.12:54267692:A:C p.(Glu358Ala) NC_000004.12:54267692:A:C p.(Glu358Ala) NC_000004.12:54267692:A:C Identity +NM_001122633.3:c.4106C>T NP_001116105.2:p.Ser1369Leu NC_000002.12:210674905:C:T p.(Ser1369Leu) NC_000002.12:210674905:C:T p.(Ser1369Leu) NC_000002.12:210674905:C:T Identity +NM_001173425.2:c.584C>T NP_001166896.1:p.Ser195Phe NC_000009.12:114504217:G:A p.(Ser195Phe) NC_000009.12:114504217:G:A p.(Ser195Phe) NC_000009.12:114504217:G:A Identity +NM_001385197.1:c.1747C>T NP_001372126.1:p.Arg583Trp NC_000019.10:10362103:G:A p.(Arg583Trp) NC_000019.10:10362103:G:A p.(Arg583Trp) NC_000019.10:10362103:G:A Identity +NM_001282368.2:c.1344C>A NP_001269297.1:p.Asp448Glu NC_000006.12:75950807:G:T p.(Asp448Glu) NC_000006.12:75950807:G:T p.(Asp448Glu) NC_000006.12:75950807:G:T Identity +NM_001032280.3:c.1169C>T NP_001027451.1:p.Thr390Met NC_000006.12:10398543:G:A p.(Thr390Met) NC_000006.12:10398543:G:A p.(Thr390Met) NC_000006.12:10398543:G:A Identity +NM_001378454.1:c.3236T>G NP_001365383.1:p.Phe1079Cys NC_000002.12:73449762:T:G p.(Phe1079Cys) NC_000002.12:73449762:T:G p.(Phe1079Cys) NC_000002.12:73449762:T:G Identity +NM_001193307.2:c.4729T>C NP_001180236.1:p.Ser1577Pro NC_000007.14:93101368:A:G p.(Ser1577Pro) NC_000007.14:93101368:A:G p.(Ser1577Pro) NC_000007.14:93101368:A:G Identity +NM_001146009.1:c.2356C>A NP_001139481.1:p.Pro786Thr NC_000008.11:69672894:G:T p.(Pro786Thr) NC_000008.11:69672894:G:T p.(Pro786Thr) NC_000008.11:69672894:G:T Identity +NM_000718.4:c.4049A>G NP_000709.1:p.Asn1350Ser NC_000009.12:138057811:A:G p.(Asn1350Ser) NC_000009.12:138057811:A:G p.(Asn1350Ser) NC_000009.12:138057811:A:G Identity +NM_001163435.3:c.2125A>G NP_001156907.2:p.Thr709Ala NC_000004.12:106171204:T:C p.(Thr709Ala) NC_000004.12:106171204:T:C p.(Thr709Ala) NC_000004.12:106171204:T:C Identity +NM_207361.6:c.6958G>A NP_997244.4:p.Val2320Met NC_000013.11:38856157:G:A p.(Val2320Met) NC_000013.11:38856157:G:A p.(Val2320Met) NC_000013.11:38856157:G:A Identity +NM_001271466.4:c.1423dup NP_001258395.2:p.Thr475fs NC_000002.12:231276723:A:AA p.(Thr475AsnfsTer40) NC_000002.12:231276723:A:AA p.(Thr475AsnfsTer40) ERR:SPDI Analogous +NM_001184985.2:c.5066C>T NP_001171914.1:p.Pro1689Leu NC_000012.12:885089:C:T p.(Pro1689Leu) NC_000012.12:885089:C:T p.(Pro1689Leu) NC_000012.12:885089:C:T Identity +NM_001130992.3:c.150_151delinsTG NP_001124464.1:p.Pro51Ala NC_000003.12:139539567:GG:CA p.(Pro51Ala) NC_000003.12:139539567:GG:CA p.(Pro51Ala) NC_000003.12:139539567:GG:CA Identity +NM_001079802.2:c.350A>G NP_001073270.1:p.Tyr117Cys NC_000009.12:105601328:A:G p.(Tyr117Cys) NC_000009.12:105601328:A:G p.(Tyr117Cys) NC_000009.12:105601328:A:G Identity +NM_001160372.4:c.1967C>T NP_001153844.1:p.Thr656Met NC_000008.11:140287621:G:A p.(Thr656Met) NC_000008.11:140287621:G:A p.(Thr656Met) NC_000008.11:140287621:G:A Identity +NM_001286577.2:c.686G>T NP_001273506.1:p.Ser229Ile NC_000011.10:74139625:C:A p.(Ser229Ile) NC_000011.10:74139625:C:A p.(Ser229Ile) NC_000011.10:74139625:C:A Identity +NM_001165966.2:c.2577GAA[1] NP_001159438.1:p.Lys860del NC_000017.11:6455572:TTCTTCTT:TTCTT p.(Lys860del) NC_000017.11:6455577:C:TTC ERR:Parse ERR:Parse Identity +NM_001321431.2:c.2056T>C NP_001308360.1:p.Cys686Arg NC_000019.10:8129353:A:G p.(Cys686Arg) NC_000019.10:8129353:A:G p.(Cys686Arg) NC_000019.10:8129353:A:G Identity +NM_001031689.3:c.61G>A NP_001026859.1:p.Val21Ile NC_000009.12:26946984:C:T p.(Val21Ile) NC_000009.12:26946984:C:T p.(Val21Ile) NC_000009.12:26946984:C:T Identity +NM_198506.5:c.532C>T NP_940908.3:p.His178Tyr NC_000004.12:109851918:C:T p.(His178Tyr) NC_000004.12:109851918:C:T p.(His178Tyr) NC_000004.12:109851918:C:T Identity +NM_014014.5:c.1073A>G NP_054733.2:p.Lys358Arg NC_000002.12:96298329:T:C p.(Lys358Arg) NC_000002.12:96298329:T:C p.(Lys358Arg) NC_000002.12:96298329:T:C Identity +NM_001114331.3:c.2048G>A NP_001107803.1:p.Arg683Lys NC_000016.10:1447521:C:T p.(Arg683Lys) NC_000016.10:1447521:C:T p.(Arg683Lys) NC_000016.10:1447521:C:T Identity +NM_000275.3:c.518G>A NP_000266.2:p.Arg173His NC_000015.10:28024899:C:T p.(Arg173His) NC_000015.10:28024899:C:T p.(Arg173His) NC_000015.10:28024899:C:T Identity +NM_001844.5:c.1579A>G NP_001835.3:p.Lys527Glu NC_000012.12:47985913:T:C p.(Lys527Glu) NC_000012.12:47985913:T:C p.(Lys527Glu) NC_000012.12:47985913:T:C Identity +NM_001184891.2:c.883G>T NP_001171820.1:p.Ala295Ser NC_000001.11:154989615:G:T p.(Ala295Ser) NC_000001.11:154989615:G:T p.(Ala295Ser) NC_000001.11:154989615:G:T Identity +NM_001029882.3:c.1727C>T NP_001025053.1:p.Ala576Val NC_000001.11:27550388:G:A p.(Ala576Val) NC_000001.11:27550388:G:A p.(Ala576Val) NC_000001.11:27550388:G:A Identity +NM_000124.4:c.2036A>C NP_000115.1:p.Gln679Pro NC_000010.11:49482819:T:G p.(Gln679Pro) NC_000010.11:49482819:T:G p.(Gln679Pro) NC_000010.11:49482819:T:G Identity +NM_001260489.2:c.17_18delinsAA NP_001247418.2:p.Gly6Glu NC_000019.10:35249038:GC:AA p.(Gly6Glu) NC_000019.10:35249038:GC:AA p.(Gly6Glu) NC_000019.10:35249038:GC:AA Identity +NM_000260.4:c.2095G>A NP_000251.3:p.Gly699Ser NC_000011.10:77175371:G:A p.(Gly699Ser) NC_000011.10:77175371:G:A p.(Gly699Ser) NC_000011.10:77175371:G:A Identity +NM_001346850.2:c.722G>A NP_001333779.1:p.Ser241Asn NC_000012.12:7068482:G:A p.(Ser241Asn) NC_000012.12:7068482:G:A p.(Ser241Asn) NC_000012.12:7068482:G:A Identity +NM_014003.4:c.1141C>T NP_054722.2:p.Arg381Cys NC_000016.10:72100459:C:T p.(Arg381Cys) NC_000016.10:72100459:C:T p.(Arg381Cys) NC_000016.10:72100459:C:T Identity +NM_001261406.2:c.997A>C NP_001248335.1:p.Ile333Leu NC_000009.12:13219647:T:G p.(Ile333Leu) NC_000009.12:13219647:T:G p.(Ile333Leu) NC_000009.12:13219647:T:G Identity +NM_018941.4:c.227A>C NP_061764.2:p.Gln76Pro NC_000008.11:1771280:A:C p.(Gln76Pro) NC_000008.11:1771280:A:C p.(Gln76Pro) NC_000008.11:1771280:A:C Identity +NM_001199835.1:c.30T>G NP_001186764.1:p.Phe10Leu NC_000007.14:26360979:T:G p.(Phe10Leu) NC_000007.14:26360979:T:G p.(Phe10Leu) NC_000007.14:26360979:T:G Identity +NM_000203.5:c.1537_1538delinsTT NP_000194.2:p.Ala513Leu NC_000004.12:1003356:GC:TT p.(Ala513Leu) NC_000004.12:1003356:GC:TT p.(Ala513Leu) NC_000004.12:1003356:GC:TT Identity +NM_001166133.2:c.677A>C NP_001159605.1:p.Gln226Pro NC_000004.12:78265097:A:C p.(Gln226Pro) NC_000004.12:78265097:A:C p.(Gln226Pro) NC_000004.12:78265097:A:C Identity +NM_001918.5:c.512C>T NP_001909.4:p.Thr171Ile NC_000001.11:100218668:G:A p.(Thr171Ile) NC_000001.11:100218668:G:A p.(Thr171Ile) NC_000001.11:100218668:G:A Identity +NM_001310332.2:c.506G>C NP_001297261.1:p.Cys169Ser NC_000014.9:24150209:G:C p.(Cys169Ser) NC_000014.9:24150209:G:C p.(Cys169Ser) NC_000014.9:24150209:G:C Identity +NM_001372.4:c.7666G>A NP_001363.2:p.Gly2556Arg NC_000017.11:11781121:G:A p.(Gly2556Arg) NC_000017.11:11781121:G:A p.(Gly2556Arg) NC_000017.11:11781121:G:A Identity +NM_001379500.1:c.1450C>T NP_001366429.1:p.Arg484Trp NC_000021.9:45480517:C:T p.(Arg484Trp) NC_000021.9:45480517:C:T p.(Arg484Trp) NC_000021.9:45480517:C:T Identity +NM_000291.4:c.1237G>A NP_000282.1:p.Ala413Thr NC_000023.11:78125812:G:A p.(Ala413Thr) NC_000023.11:78125812:G:A p.(Ala413Thr) NC_000023.11:78125812:G:A Identity +NM_000264.5:c.2042C>T NP_000255.2:p.Pro681Leu NC_000009.12:95468958:G:A p.(Pro681Leu) NC_000009.12:95468958:G:A p.(Pro681Leu) NC_000009.12:95468958:G:A Identity +NM_000087.5:c.1874G>T NP_000078.3:p.Arg625Leu NC_000004.12:47936607:C:A p.(Arg625Leu) NC_000004.12:47936607:C:A p.(Arg625Leu) NC_000004.12:47936607:C:A Identity +NM_001135597.2:c.4405C>G NP_001129069.1:p.Pro1469Ala NC_000002.12:55303131:G:C p.(Pro1469Ala) NC_000002.12:55303131:G:C p.(Pro1469Ala) NC_000002.12:55303131:G:C Identity +NM_003705.5:c.941G>T NP_003696.2:p.Gly314Val NC_000002.12:171815191:C:A p.(Gly314Val) NC_000002.12:171815191:C:A p.(Gly314Val) NC_000002.12:171815191:C:A Identity +NM_001365819.1:c.3284C>T NP_001352748.1:p.Ser1095Leu NC_000022.11:50460273:G:A p.(Ser1095Leu) NC_000022.11:50460273:G:A p.(Ser1095Leu) NC_000022.11:50460273:G:A Identity +NM_001042410.2:c.1901G>A NP_001035869.1:p.Arg634Lys NC_000002.12:219235804:G:A p.(Arg634Lys) NC_000002.12:219235804:G:A p.(Arg634Lys) NC_000002.12:219235804:G:A Identity +NM_001165967.2:c.403C>T NP_001159439.1:p.Pro135Ser NC_000017.11:8121860:G:A p.(Pro135Ser) NC_000017.11:8121860:G:A p.(Pro135Ser) NC_000017.11:8121860:G:A Identity +NM_017671.5:c.1144A>C NP_060141.3:p.Lys382Gln NC_000020.11:6089084:T:G p.(Lys382Gln) NC_000020.11:6089084:T:G p.(Lys382Gln) NC_000020.11:6089084:T:G Identity +NM_031935.3:c.4558A>C NP_114141.2:p.Lys1520Gln NC_000001.11:186007209:A:C p.(Lys1520Gln) NC_000001.11:186007209:A:C p.(Lys1520Gln) NC_000001.11:186007209:A:C Identity +NM_001321378.2:c.55G>A NP_001308307.1:p.Glu19Lys NC_000011.10:17169686:C:T p.(Glu19Lys) NC_000011.10:17169686:C:T p.(Glu19Lys) NC_000011.10:17169686:C:T Identity +NM_000277.3:c.458T>C NP_000268.1:p.Val153Ala NC_000012.12:102866646:A:G p.(Val153Ala) NC_000012.12:102866646:A:G p.(Val153Ala) NC_000012.12:102866646:A:G Identity +NM_001348748.1:c.3794G>A NP_001335677.1:p.Arg1265His NC_000011.10:9139740:C:T ERR:Data provider error: ValueError: Transcript NM_001348748.1 not found ERR:Data provider error: ValueError: Transcript NM_001348748.1 not found ERR:AlignmentMapper(tx_ac=NM_001348748.1, alt_ac=NM_001348748.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001348748.1, alt_ac=NM_001348748.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001348748.1 not found +NM_002087.4:c.190G>A NP_002078.1:p.Asp64Asn NC_000017.11:44349476:G:A p.(Asp64Asn) NC_000017.11:44349476:G:A p.(Asp64Asn) NC_000017.11:44349476:G:A Identity +NM_000334.4:c.4171A>G NP_000325.4:p.Ile1391Val NC_000017.11:63942942:T:C p.(Ile1391Val) NC_000017.11:63942942:T:C p.(Ile1391Val) NC_000017.11:63942942:T:C Identity +NM_015512.5:c.3762G>T NP_056327.4:p.Glu1254Asp NC_000003.12:52356681:G:T p.(Glu1254Asp) NC_000003.12:52356681:G:T p.(Glu1254Asp) NC_000003.12:52356681:G:T Identity +NM_000066.4:c.770G>A NP_000057.3:p.Gly257Asp NC_000001.11:56949648:C:T p.(Gly257Asp) NC_000001.11:56949648:C:T p.(Gly257Asp) NC_000001.11:56949648:C:T Identity +NM_004304.5:c.1043C>T NP_004295.2:p.Ala348Val NC_000002.12:29532025:G:A p.(Ala348Val) NC_000002.12:29532025:G:A p.(Ala348Val) NC_000002.12:29532025:G:A Identity +NM_000587.4:c.1635C>G NP_000578.2:p.Cys545Trp NC_000005.10:40959593:C:G p.(Cys545Trp) NC_000005.10:40959593:C:G p.(Cys545Trp) NC_000005.10:40959593:C:G Identity +NM_001254734.2:c.78del NP_001241663.1:p.Cys27fs NC_000020.11:2394518:CCCC:CCC p.(Cys27AlafsTer18) NC_000020.11:2394518:CCCC:CCC p.(Cys27AlafsTer18) NC_000020.11:2394521:C: Analogous +NM_212550.5:c.395A>G NP_997715.1:p.Tyr132Cys NC_000019.10:45179690:A:G p.(Tyr132Cys) NC_000019.10:45179690:A:G p.(Tyr132Cys) NC_000019.10:45179690:A:G Identity +NM_001999.4:c.2334A>G NP_001990.2:p.Ile778Met NC_000005.10:128364693:T:C p.(Ile778Met) NC_000005.10:128364693:T:C p.(Ile778Met) NC_000005.10:128364693:T:C Identity +NM_017433.5:c.2180A>G NP_059129.3:p.Asn727Ser NC_000010.11:26128455:A:G p.(Asn727Ser) NC_000010.11:26128455:A:G p.(Asn727Ser) NC_000010.11:26128455:A:G Identity +NM_000426.4:c.8544C>A NP_000417.3:p.His2848Gln NC_000006.12:129503276:C:A p.(His2848Gln) NC_000006.12:129503276:C:A p.(His2848Gln) NC_000006.12:129503276:C:A Identity +NM_002049.4:c.19G>C NP_002040.1:p.Gly7Arg NC_000023.11:48791127:G:C p.(Gly7Arg) NC_000023.11:48791127:G:C p.(Gly7Arg) NC_000023.11:48791127:G:C Identity +NM_001943.5:c.3037T>C NP_001934.2:p.Tyr1013His NC_000018.10:31546422:T:C p.(Tyr1013His) NC_000018.10:31546422:T:C p.(Tyr1013His) NC_000018.10:31546422:T:C Identity +NM_001845.6:c.4582C>T NP_001836.3:p.Pro1528Ser NC_000013.11:110161249:G:A p.(Pro1528Ser) NC_000013.11:110161249:G:A p.(Pro1528Ser) NC_000013.11:110161249:G:A Identity +NM_001142763.2:c.5792C>T NP_001136235.1:p.Thr1931Ile NC_000010.11:53821954:G:A p.(Thr1931Ile) NC_000010.11:53821954:G:A p.(Thr1931Ile) NC_000010.11:53821954:G:A Identity +NM_000629.3:c.954G>C NP_000620.2:p.Trp318Cys NC_000021.9:33349255:G:C p.(Trp318Cys) NC_000021.9:33349255:G:C p.(Trp318Cys) NC_000021.9:33349255:G:C Identity +NM_001385142.1:c.598G>T NP_001372071.1:p.Val200Leu NC_000014.9:102886215:G:T p.(Val200Leu) NC_000014.9:102886215:G:T p.(Val200Leu) NC_000014.9:102886215:G:T Identity +NM_001288989.2:c.230G>A NP_001275918.1:p.Arg77Lys NC_000010.11:94031275:G:A p.(Arg77Lys) NC_000010.11:94031275:G:A p.(Arg77Lys) NC_000010.11:94031275:G:A Identity +NM_000091.5:c.1A>G NP_000082.2:p.Met1Val NC_000002.12:227164726:A:G p.(Met1Val) NC_000002.12:227164726:A:G p.Met1? NC_000002.12:227164726:A:G Identity +NM_001112808.3:c.770A>G NP_001106279.3:p.His257Arg NC_000001.11:74331471:A:G p.(His257Arg) NC_000001.11:74331471:A:G p.(His257Arg) NC_000001.11:74331471:A:G Identity +NM_005337.5:c.2663C>T NP_005328.2:p.Pro888Leu NC_000012.12:54531548:C:T p.(Pro888Leu) NC_000012.12:54531548:C:T p.(Pro888Leu) NC_000012.12:54531548:C:T Identity +NM_001122681.2:c.205C>T NP_001116153.1:p.Pro69Ser NC_000004.12:2823002:C:T p.(Pro69Ser) NC_000004.12:2823002:C:T p.(Pro69Ser) NC_000004.12:2823002:C:T Identity +NM_006015.6:c.2836C>A NP_006006.3:p.Pro946Thr NC_000001.11:26766323:C:A p.(Pro946Thr) NC_000001.11:26766323:C:A p.(Pro946Thr) NC_000001.11:26766323:C:A Identity +NM_033071.5:c.15550G>A NP_149062.2:p.Asp5184Asn NC_000006.12:152323631:C:T p.(Asp5184Asn) NC_000006.12:152323631:C:T p.(Asp5184Asn) NC_000006.12:152323631:C:T Identity +NM_001068.3:c.4519A>G NP_001059.2:p.Lys1507Glu NC_000003.12:25601180:T:C p.(Lys1507Glu) NC_000003.12:25601180:T:C p.(Lys1507Glu) NC_000003.12:25601180:T:C Identity +NM_001203.3:c.1239A>T NP_001194.1:p.Arg413Ser NC_000004.12:95148909:A:T p.(Arg413Ser) NC_000004.12:95148909:A:T p.(Arg413Ser) NC_000004.12:95148909:A:T Identity +NM_000721.4:c.280A>G NP_000712.2:p.Met94Val NC_000001.11:181510489:A:G p.(Met94Val) NC_000001.11:181510489:A:G p.(Met94Val) NC_000001.11:181510489:A:G Identity +NM_001130991.3:c.1017C>G NP_001124463.1:p.Phe339Leu NC_000011.10:119052399:G:C p.(Phe339Leu) NC_000011.10:119052399:G:C p.(Phe339Leu) NC_000011.10:119052399:G:C Identity +NM_000308.4:c.1096G>A NP_000299.3:p.Val366Ile NC_000020.11:45896971:G:A p.(Val366Ile) NC_000020.11:45896971:G:A p.(Val366Ile) NC_000020.11:45896971:G:A Identity +NM_001254.4:c.74A>C NP_001245.1:p.Lys25Thr NC_000017.11:40289493:A:C p.(Lys25Thr) NC_000017.11:40289493:A:C p.(Lys25Thr) NC_000017.11:40289493:A:C Identity +NM_001039885.3:c.1468A>G NP_001034974.1:p.Ser490Gly NC_000019.10:46756917:A:G p.(Ser490Gly) NC_000019.10:46756917:A:G p.(Ser490Gly) NC_000019.10:46756917:A:G Identity +NM_001318245.2:c.3452C>T NP_001305174.1:p.Ser1151Phe NC_000022.11:25846179:C:T p.(Ser1151Phe) NC_000022.11:25846179:C:T p.(Ser1151Phe) NC_000022.11:25846179:C:T Identity +NM_001193307.2:c.718A>C NP_001180236.1:p.Lys240Gln NC_000007.14:93105379:T:G p.(Lys240Gln) NC_000007.14:93105379:T:G p.(Lys240Gln) NC_000007.14:93105379:T:G Identity +NM_032520.5:c.265G>A NP_115909.1:p.Val89Met NC_000016.10:1361902:G:A p.(Val89Met) NC_000016.10:1361902:G:A p.(Val89Met) NC_000016.10:1361902:G:A Identity +NM_017617.5:c.5191C>A NP_060087.3:p.Pro1731Thr NC_000009.12:136502464:G:T p.(Pro1731Thr) NC_000009.12:136502464:G:T p.(Pro1731Thr) NC_000009.12:136502464:G:T Identity +NM_000562.3:c.1094T>C NP_000553.1:p.Leu365Pro NC_000001.11:56886164:T:C p.(Leu365Pro) NC_000001.11:56886164:T:C p.(Leu365Pro) NC_000001.11:56886164:T:C Identity +NM_001377289.1:c.894dup NP_001364218.1:p.Val299fs NC_000006.12:70255004:A:AA p.(Val299CysfsTer5) NC_000006.12:70255004:A:AA p.(Val299CysfsTer5) ERR:SPDI Analogous +NM_001291285.3:c.11368G>A NP_001278214.1:p.Glu3790Lys NC_000004.12:125452377:G:A p.(Glu3790Lys) NC_000004.12:125452377:G:A p.(Glu3790Lys) NC_000004.12:125452377:G:A Identity +NM_001349896.1:c.2089A>G NP_001336825.1:p.Lys697Glu NC_000022.11:26453270:T:C p.(Lys697Glu) NC_000022.11:26453270:T:C p.(Lys697Glu) NC_000022.11:26453270:T:C Identity +NM_014014.5:c.5075A>G NP_054733.2:p.Asn1692Ser NC_000002.12:96279508:T:C p.(Asn1692Ser) NC_000002.12:96279508:T:C p.(Asn1692Ser) NC_000002.12:96279508:T:C Identity +NM_001102406.2:c.1034T>C NP_001095876.1:p.Val345Ala NC_000004.12:112430580:T:C p.(Val345Ala) NC_000004.12:112430580:T:C p.(Val345Ala) NC_000004.12:112430580:T:C Identity +NM_006766.5:c.5383G>A NP_006757.2:p.Ala1795Thr NC_000008.11:41932836:C:T p.(Ala1795Thr) NC_000008.11:41932836:C:T p.(Ala1795Thr) NC_000008.11:41932836:C:T Identity +NM_001199777.2:c.493G>A NP_001186706.1:p.Asp165Asn NC_000012.12:89471670:C:T p.(Asp165Asn) NC_000012.12:89471670:C:T p.(Asp165Asn) NC_000012.12:89471670:C:T Identity +NM_001271440.2:c.317G>A NP_001258369.1:p.Arg106His NC_000021.9:44333088:C:T p.(Arg106His) NC_000021.9:44333088:C:T p.(Arg106His) NC_000021.9:44333088:C:T Identity +NM_001367830.1:c.2T>C NP_001354759.1:p.Met1Thr NC_000019.10:11262438:A:G p.(Met1Thr) NC_000019.10:11262438:A:G p.Met1? NC_000019.10:11262438:A:G Identity +NM_001171184.2:c.1196A>G NP_001164655.1:p.Asn399Ser NC_000023.11:101248265:A:G p.(Asn399Ser) NC_000023.11:101248265:A:G p.(Asn399Ser) NC_000023.11:101248265:A:G Identity +NM_001084.5:c.1319G>A NP_001075.1:p.Arg440His NC_000007.14:101211629:C:T p.(Arg440His) NC_000007.14:101211629:C:T p.(Arg440His) NC_000007.14:101211629:C:T Identity +NM_000248.4:c.292G>A NP_000239.1:p.Ala98Thr NC_000003.12:69939127:G:A p.(Ala98Thr) NC_000003.12:69939127:G:A p.(Ala98Thr) NC_000003.12:69939127:G:A Identity +NM_031935.3:c.15392C>T NP_114141.2:p.Ser5131Phe NC_000001.11:186166255:C:T p.(Ser5131Phe) NC_000001.11:186166255:C:T p.(Ser5131Phe) NC_000001.11:186166255:C:T Identity +NM_007055.4:c.1487A>G NP_008986.2:p.Tyr496Cys NC_000010.11:78013734:T:C p.(Tyr496Cys) NC_000010.11:78013734:T:C p.(Tyr496Cys) NC_000010.11:78013734:T:C Identity +NM_001040436.3:c.431T>C NP_001035526.1:p.Leu144Pro NC_000012.12:32755443:A:G p.(Leu144Pro) NC_000012.12:32755443:A:G p.(Leu144Pro) NC_000012.12:32755443:A:G Identity +NM_000350.3:c.5332A>G NP_000341.2:p.Met1778Val NC_000001.11:94014670:T:C p.(Met1778Val) NC_000001.11:94014670:T:C p.(Met1778Val) NC_000001.11:94014670:T:C Identity +NM_004525.3:c.1700T>C NP_004516.2:p.Ile567Thr NC_000002.12:169277816:A:G p.(Ile567Thr) NC_000002.12:169277816:A:G p.(Ile567Thr) NC_000002.12:169277816:A:G Identity +NM_031935.3:c.14563G>A NP_114141.2:p.Gly4855Arg NC_000001.11:186145877:G:A p.(Gly4855Arg) NC_000001.11:186145877:G:A p.(Gly4855Arg) NC_000001.11:186145877:G:A Identity +NM_145290.4:c.2762A>G NP_660333.2:p.Tyr921Cys NC_000004.12:22388908:T:C p.(Tyr921Cys) NC_000004.12:22388908:T:C p.(Tyr921Cys) NC_000004.12:22388908:T:C Identity +NM_000246.4:c.275G>A NP_000237.2:p.Arg92Lys NC_000016.10:10895743:G:A p.(Arg92Lys) NC_000016.10:10895743:G:A p.(Arg92Lys) NC_000016.10:10895743:G:A Identity +NM_001321851.1:c.1189G>A NP_001308780.1:p.Glu397Lys NC_000014.9:92011789:C:T p.(Glu397Lys) NC_000014.9:92011789:C:T p.(Glu397Lys) NC_000014.9:92011789:C:T Identity +NM_145059.3:c.1385T>C NP_659496.2:p.Phe462Ser NC_000016.10:70472583:T:C p.(Phe462Ser) NC_000016.10:70472583:T:C p.(Phe462Ser) NC_000016.10:70472583:T:C Identity +NM_001349253.2:c.4222A>C NP_001336182.1:p.Ile1408Leu NC_000003.12:38850585:T:G p.(Ile1408Leu) NC_000003.12:38850585:T:G p.(Ile1408Leu) NC_000003.12:38850585:T:G Identity +NM_032520.5:c.310A>G NP_115909.1:p.Ile104Val NC_000016.10:1361947:A:G p.(Ile104Val) NC_000016.10:1361947:A:G p.(Ile104Val) NC_000016.10:1361947:A:G Identity +NM_032119.4:c.15505A>G NP_115495.3:p.Ile5169Val NC_000005.10:90810764:A:G p.(Ile5169Val) NC_000005.10:90810764:A:G p.(Ile5169Val) NC_000005.10:90810764:A:G Identity +NM_001322019.2:c.977G>A NP_001308948.1:p.Arg326His NC_000002.12:239990095:C:T p.(Arg326His) NC_000002.12:239990095:C:T p.(Arg326His) NC_000002.12:239990095:C:T Identity +NM_001220.5:c.976A>G NP_001211.3:p.Met326Val NC_000007.14:44239633:T:C p.(Met326Val) NC_000007.14:44239633:T:C p.(Met326Val) NC_000007.14:44239633:T:C Identity +NM_001171.6:c.3139C>T NP_001162.5:p.Arg1047Cys NC_000016.10:16165789:G:A p.(Arg1047Cys) NC_000016.10:16165789:G:A p.(Arg1047Cys) NC_000016.10:16165789:G:A Identity +NM_030777.4:c.95C>G NP_110404.1:p.Ala32Gly NC_000020.11:46725130:C:G p.(Ala32Gly) NC_000020.11:46725130:C:G p.(Ala32Gly) NC_000020.11:46725130:C:G Identity +NM_001315529.2:c.8963A>G NP_001302458.1:p.Glu2988Gly NC_000021.9:46441014:A:G p.(Glu2988Gly) NC_000021.9:46441014:A:G p.(Glu2988Gly) NC_000021.9:46441014:A:G Identity +NM_001100913.3:c.2230_2232del NP_001094383.2:p.Val744del NC_000014.9:105391739:GGTG:G p.(Val744del) NC_000014.9:105391739:GGTG:G p.(Val744del) NC_000014.9:105391740:GTG: Identity +NM_001142800.2:c.4150T>A NP_001136272.1:p.Phe1384Ile NC_000006.12:64591716:A:T p.(Phe1384Ile) NC_000006.12:64591716:A:T p.(Phe1384Ile) NC_000006.12:64591716:A:T Identity +NM_005257.6:c.812T>C NP_005248.2:p.Met271Thr NC_000018.10:22171955:T:C p.(Met271Thr) NC_000018.10:22171955:T:C p.(Met271Thr) NC_000018.10:22171955:T:C Identity +NM_001407296.1:c.2164T>C NP_001394225.1:p.Ser722Pro NC_000016.10:23629929:A:G p.(Ser722Pro) NC_000016.10:23629929:A:G p.(Ser722Pro) NC_000016.10:23629929:A:G Identity +NM_001193300.2:c.1395C>A NP_001180229.1:p.Asp465Glu NC_000001.11:156174900:C:A p.(Asp465Glu) NC_000001.11:156174900:C:A p.(Asp465Glu) NC_000001.11:156174900:C:A Identity +NM_004370.6:c.2476A>G NP_004361.3:p.Thr826Ala NC_000006.12:75175271:T:C p.(Thr826Ala) NC_000006.12:75175271:T:C p.(Thr826Ala) NC_000006.12:75175271:T:C Identity +NM_000336.3:c.1727C>T NP_000327.2:p.Pro576Leu NC_000016.10:23380604:C:T p.(Pro576Leu) NC_000016.10:23380604:C:T p.(Pro576Leu) NC_000016.10:23380604:C:T Identity +NM_001410739.1:c.2825G>A NP_001397668.1:p.Cys942Tyr NC_000002.12:27458209:C:T p.(Cys942Tyr) NC_000002.12:27458209:C:T p.(Cys942Tyr) NC_000002.12:27458209:C:T Identity +NM_001129.5:c.1590C>G NP_001120.3:p.Ser530Arg NC_000007.14:44111016:C:G p.(Ser530Arg) NC_000007.14:44111016:C:G p.(Ser530Arg) NC_000007.14:44111016:C:G Identity +NM_001304763.2:c.3156G>T NP_001291692.1:p.Gln1052His NC_000001.11:151290509:G:T p.(Gln1052His) NC_000001.11:151290509:G:T p.(Gln1052His) NC_000001.11:151290509:G:T Identity +NM_001168249.1:c.1600C>T NP_001161721.1:p.Pro534Ser NC_000001.11:103003264:G:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001382394.1:c.95A>T NP_001369323.1:p.Glu32Val NC_000002.12:39067724:T:A p.(Glu32Val) NC_000002.12:39067724:T:A p.(Glu32Val) NC_000002.12:39067724:T:A Identity +NM_144563.3:c.925C>T NP_653164.2:p.Pro309Ser NC_000002.12:88750066:C:T p.(Pro309Ser) NC_000002.12:88750066:C:T p.(Pro309Ser) NC_000002.12:88750066:C:T Identity +NM_000177.5:c.1255C>T NP_000168.1:p.Arg419Trp NC_000009.12:121318790:C:T p.(Arg419Trp) NC_000009.12:121318790:C:T p.(Arg419Trp) NC_000009.12:121318790:C:T Identity +NM_032119.4:c.7571T>C NP_115495.3:p.Val2524Ala NC_000005.10:90694326:T:C p.(Val2524Ala) NC_000005.10:90694326:T:C p.(Val2524Ala) NC_000005.10:90694326:T:C Identity +NM_013254.4:c.1991C>T NP_037386.1:p.Thr664Ile NC_000012.12:64497678:C:T p.(Thr664Ile) NC_000012.12:64497678:C:T p.(Thr664Ile) NC_000012.12:64497678:C:T Identity +NM_001163022.3:c.1030G>A NP_001156494.1:p.Ala344Thr NC_000020.11:21163145:G:A p.(Ala344Thr) NC_000020.11:21163145:G:A p.(Ala344Thr) NC_000020.11:21163145:G:A Identity +NM_001127231.3:c.2630G>T NP_001120703.1:p.Arg877Leu NC_000007.14:70789917:G:T p.(Arg877Leu) NC_000007.14:70789917:G:T p.(Arg877Leu) NC_000007.14:70789917:G:T Identity +NM_000540.3:c.4123G>C NP_000531.2:p.Glu1375Gln NC_000019.10:38473733:G:C p.(Glu1375Gln) NC_000019.10:38473733:G:C p.(Glu1375Gln) NC_000019.10:38473733:G:C Identity +NM_000535.7:c.1960C>A NP_000526.2:p.Pro654Thr NC_000007.14:5986804:G:T p.(Pro654Thr) NC_000007.14:5986804:G:T p.(Pro654Thr) NC_000007.14:5986804:G:T Identity +NM_025074.7:c.9808A>T NP_079350.5:p.Arg3270Trp NC_000004.12:78511300:A:T p.(Arg3270Trp) NC_000004.12:78511300:A:T p.(Arg3270Trp) NC_000004.12:78511300:A:T Identity +NM_001127687.1:c.1088A>T NP_001121159.1:p.Tyr363Phe NC_000001.11:202941612:T:A ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found ERR:AlignmentMapper(tx_ac=NM_001127687.1, alt_ac=NM_001127687.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127687.1, alt_ac=NM_001127687.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127687.1 not found +NM_138694.4:c.5411G>T NP_619639.3:p.Arg1804Leu NC_000006.12:52017598:C:A p.(Arg1804Leu) NC_000006.12:52017598:C:A p.(Arg1804Leu) NC_000006.12:52017598:C:A Identity +NM_006204.4:c.57T>G NP_006195.3:p.Phe19Leu NC_000010.11:93612781:T:G p.(Phe19Leu) NC_000010.11:93612781:T:G p.(Phe19Leu) NC_000010.11:93612781:T:G Identity +NM_001144769.5:c.2969A>G NP_001138241.1:p.Asn990Ser NC_000006.12:56635706:T:C p.(Asn990Ser) NC_000006.12:56635706:T:C p.(Asn990Ser) NC_000006.12:56635706:T:C Identity +NM_000755.5:c.542G>A NP_000746.3:p.Arg181Gln NC_000009.12:129102487:C:T p.(Arg181Gln) NC_000009.12:129102487:C:T p.(Arg181Gln) NC_000009.12:129102487:C:T Identity +NM_001410772.1:c.1595delT NP_001397701.1:p.Val532Alafs NC_000003.12:52403495:A: p.(Val532AlafsTer21) NC_000003.12:52403495:A: p.(Val532AlafsTer21) NC_000003.12:52403495:A: Analogous +NM_005914.4:c.1247T>C NP_005905.2:p.Ile416Thr NC_000008.11:47969869:T:C p.(Ile416Thr) NC_000008.11:47969869:T:C p.(Ile416Thr) NC_000008.11:47969869:T:C Identity +NM_001166111.2:c.1732G>A NP_001159583.1:p.Gly578Arg NC_000019.10:7550002:G:A p.(Gly578Arg) NC_000019.10:7550002:G:A p.(Gly578Arg) NC_000019.10:7550002:G:A Identity +NM_001127892.2:c.2102T>G NP_001121364.1:p.Val701Gly NC_000016.10:51139828:A:C p.(Val701Gly) NC_000016.10:51139828:A:C p.(Val701Gly) NC_000016.10:51139828:A:C Identity +NM_206933.4:c.11683G>A NP_996816.3:p.Gly3895Arg NC_000001.11:215741402:C:T p.(Gly3895Arg) NC_000001.11:215741402:C:T p.(Gly3895Arg) NC_000001.11:215741402:C:T Identity +NM_001328.3:c.24C>G NP_001319.1:p.Asn8Lys NC_000004.12:1248931:G:C p.(Asn8Lys) NC_000004.12:1248931:G:C p.(Asn8Lys) NC_000004.12:1248931:G:C Identity +NM_001167614.2:c.2603A>G NP_001161086.1:p.Asp868Gly NC_000012.12:65246194:A:G p.(Asp868Gly) NC_000012.12:65246194:A:G p.(Asp868Gly) NC_000012.12:65246194:A:G Identity +NM_001353765.2:c.575C>T NP_001340694.1:p.Pro192Leu NC_000002.12:29209842:G:A p.(Pro192Leu) NC_000002.12:29209842:G:A p.(Pro192Leu) NC_000002.12:29209842:G:A Identity +NM_001077182.3:c.738_739inv NP_001070650.1:p.Gly247Ser NC_000017.11:81529268:TG:CA p.(Gly247Ser) NC_000017.11:81529268:TG:CA p.(Gly247Ser) ERR:SPDI Identity +NM_001286577.2:c.3106C>G NP_001273506.1:p.Pro1036Ala NC_000011.10:74095281:G:C p.(Pro1036Ala) NC_000011.10:74095281:G:C p.(Pro1036Ala) NC_000011.10:74095281:G:C Identity +NM_001127214.4:c.428G>T NP_001120686.1:p.Ser143Ile NC_000016.10:89101108:G:T p.(Ser143Ile) NC_000016.10:89101108:G:T p.(Ser143Ile) NC_000016.10:89101108:G:T Identity +NM_001032409.3:c.146G>T NP_001027581.1:p.Ser49Ile NC_000012.12:112907184:G:T p.(Ser49Ile) NC_000012.12:112907184:G:T p.(Ser49Ile) NC_000012.12:112907184:G:T Identity +NM_018941.4:c.344G>C NP_061764.2:p.Cys115Ser NC_000008.11:1771397:G:C p.(Cys115Ser) NC_000008.11:1771397:G:C p.(Cys115Ser) NC_000008.11:1771397:G:C Identity +NM_001135242.2:c.67A>G NP_001128714.1:p.Ile23Val NC_000008.11:133280263:T:C p.(Ile23Val) NC_000008.11:133280263:T:C p.(Ile23Val) NC_000008.11:133280263:T:C Identity +NM_021076.4:c.1492GAA[2] NP_066554.2:p.Glu500del NC_000022.11:29489130:AGAAGAAGAA:AGAAGAA p.(Glu500del) NC_000022.11:29489131:G:GAAGAA ERR:Parse ERR:Parse Identity +NM_001288607.2:c.1763G>A NP_001275536.1:p.Gly588Asp NC_000001.11:150556737:G:A p.(Gly588Asp) NC_000001.11:150556737:G:A p.(Gly588Asp) NC_000001.11:150556737:G:A Identity +NM_000572.3:c.529C>T NP_000563.1:p.Arg177Ter NC_000001.11:206768643:G:A p.(Arg177Ter) NC_000001.11:206768643:G:A p.(Arg177Ter) NC_000001.11:206768643:G:A Identity +NM_001372.4:c.3040T>C NP_001363.2:p.Ser1014Pro NC_000017.11:11669480:T:C p.(Ser1014Pro) NC_000017.11:11669480:T:C p.(Ser1014Pro) NC_000017.11:11669480:T:C Identity +NM_015202.5:c.2435C>T NP_056017.4:p.Pro812Leu NC_000016.10:27740731:C:T p.(Pro812Leu) NC_000016.10:27740731:C:T p.(Pro812Leu) NC_000016.10:27740731:C:T Identity +NM_001004356.3:c.1126C>T NP_001004356.1:p.Pro376Ser NC_000004.12:1024957:C:T p.(Pro376Ser) NC_000004.12:1024957:C:T p.(Pro376Ser) NC_000004.12:1024957:C:T Identity +NM_003737.4:c.8683C>T NP_003728.1:p.Pro2895Ser NC_000011.10:6622992:G:A p.(Pro2895Ser) NC_000011.10:6622992:G:A p.(Pro2895Ser) NC_000011.10:6622992:G:A Identity +NM_001006600.3:c.2639G>A NP_001006600.1:p.Gly880Glu NC_000005.10:66053956:G:A p.(Gly880Glu) NC_000005.10:66053956:G:A p.(Gly880Glu) NC_000005.10:66053956:G:A Identity +NM_001042494.2:c.64C>T NP_001035959.1:p.Arg22Trp NC_000015.10:34336439:G:A p.(Arg22Trp) NC_000015.10:34336439:G:A p.(Arg22Trp) NC_000015.10:34336439:G:A Identity +NM_001172631.3:c.937G>C NP_001166102.1:p.Asp313His NC_000014.9:102425276:G:C p.(Asp313His) NC_000014.9:102425276:G:C p.(Asp313His) NC_000014.9:102425276:G:C Identity +NM_174916.3:c.863G>A NP_777576.1:p.Ser288Asn NC_000015.10:43059823:C:T p.(Ser288Asn) NC_000015.10:43059823:C:T p.(Ser288Asn) NC_000015.10:43059823:C:T Identity +NM_001286130.2:c.2582C>T NP_001273059.1:p.Thr861Met NC_000016.10:57904767:G:A p.(Thr861Met) NC_000016.10:57904767:G:A p.(Thr861Met) NC_000016.10:57904767:G:A Identity +NM_001351527.2:c.3706G>A NP_001338456.1:p.Val1236Ile NC_000009.12:132327891:C:T p.(Val1236Ile) NC_000009.12:132327891:C:T p.(Val1236Ile) NC_000009.12:132327891:C:T Identity +NM_001379277.1:c.4476A>G NP_001366206.1:p.Ile1492Met NC_000007.14:92096789:A:G p.(Ile1492Met) NC_000007.14:92096789:A:G p.(Ile1492Met) NC_000007.14:92096789:A:G Identity +NM_000439.5:c.868T>C NP_000430.3:p.Tyr290His NC_000005.10:96412331:A:G p.(Tyr290His) NC_000005.10:96412331:A:G p.(Tyr290His) NC_000005.10:96412331:A:G Identity +NM_000327.4:c.709C>T NP_000318.2:p.Pro237Ser NC_000011.10:62614375:C:T p.(Pro237Ser) NC_000011.10:62614375:C:T p.(Pro237Ser) NC_000011.10:62614375:C:T Identity +NM_001270476.2:c.761G>A NP_001257405.1:p.Arg254His NC_000006.12:43009189:G:A p.(Arg254His) NC_000006.12:43009189:G:A p.(Arg254His) NC_000006.12:43009189:G:A Identity +NM_001126131.2:c.2008C>G NP_001119603.1:p.Pro670Ala NC_000015.10:89324168:G:C p.(Pro670Ala) NC_000015.10:89324168:G:C p.(Pro670Ala) NC_000015.10:89324168:G:C Identity +NM_001282933.2:c.122C>T NP_001269862.1:p.Pro41Leu NC_000020.11:33740991:C:T p.(Pro41Leu) NC_000020.11:33740991:C:T p.(Pro41Leu) NC_000020.11:33740991:C:T Identity +NM_000465.4:c.1718T>G NP_000456.2:p.Ile573Arg NC_000002.12:214745813:A:C p.(Ile573Arg) NC_000002.12:214745813:A:C p.(Ile573Arg) NC_000002.12:214745813:A:C Identity +NM_001330192.2:c.1609G>A NP_001317121.1:p.Glu537Lys NC_000012.12:68727350:G:A p.(Glu537Lys) NC_000012.12:68727350:G:A p.(Glu537Lys) NC_000012.12:68727350:G:A Identity +NM_007123.6:c.1888G>T NP_009054.6:p.Ala630Ser NC_000001.11:216289362:C:A p.(Ala630Ser) NC_000001.11:216289362:C:A p.(Ala630Ser) NC_000001.11:216289362:C:A Identity +NM_005921.2:c.13G>C NP_005912.1:p.Ala5Pro NC_000005.10:56815585:G:C p.(Ala5Pro) NC_000005.10:56815585:G:C p.(Ala5Pro) NC_000005.10:56815585:G:C Identity +NM_001004334.4:c.3517A>G NP_001004334.3:p.Ser1173Gly NC_000017.11:38330051:T:C p.(Ser1173Gly) NC_000017.11:38330051:T:C p.(Ser1173Gly) NC_000017.11:38330051:T:C Identity +NM_031935.3:c.8017G>T NP_114141.2:p.Asp2673Tyr NC_000001.11:186070634:G:T p.(Asp2673Tyr) NC_000001.11:186070634:G:T p.(Asp2673Tyr) NC_000001.11:186070634:G:T Identity +NM_000089.4:c.2882G>A NP_000080.2:p.Gly961Asp NC_000007.14:94425795:G:A p.(Gly961Asp) NC_000007.14:94425795:G:A p.(Gly961Asp) NC_000007.14:94425795:G:A Identity +NM_017780.4:c.2272C>T NP_060250.2:p.Arg758Cys NC_000008.11:60800420:C:T p.(Arg758Cys) NC_000008.11:60800420:C:T p.(Arg758Cys) NC_000008.11:60800420:C:T Identity +NM_033071.5:c.12466A>C NP_149062.2:p.Asn4156His NC_000006.12:152334122:T:G p.(Asn4156His) NC_000006.12:152334122:T:G p.(Asn4156His) NC_000006.12:152334122:T:G Identity +NM_001184795.1:c.479G>C NP_001171724.1:p.Gly160Ala NC_000001.11:145912419:C:G p.(Gly160Ala) NC_000001.11:145912419:C:G p.(Gly160Ala) NC_000001.11:145912419:C:G Identity +NM_000228.3:c.155del NP_000219.2:p.Pro52fs NC_000001.11:209649991:GG:G p.(Pro52LeufsTer13) NC_000001.11:209649991:GG:G p.(Pro52LeufsTer13) NC_000001.11:209649991:G: Analogous +NM_001042517.2:c.2777G>C NP_001035982.1:p.Gly926Ala NC_000013.11:59839408:C:G p.(Gly926Ala) NC_000013.11:59839408:C:G p.(Gly926Ala) NC_000013.11:59839408:C:G Identity +NM_001277764.2:c.96C>G NP_001264693.1:p.Tyr32Ter NC_000015.10:90232437:G:C p.(Tyr32Ter) NC_000015.10:90232437:G:C p.(Tyr32Ter) NC_000015.10:90232437:G:C Identity +NM_001410846.1:c.2108A>G NP_001397775.1:p.Asn703Ser NC_000020.11:48985447:A:G p.(Asn703Ser) NC_000020.11:48985447:A:G p.(Asn703Ser) NC_000020.11:48985447:A:G Identity +NM_001242581.2:c.1876C>T NP_001229510.1:p.Pro626Ser NC_000020.11:19975753:C:T p.(Pro626Ser) NC_000020.11:19975753:C:T p.(Pro626Ser) NC_000020.11:19975753:C:T Identity +NM_000316.3:c.152G>A NP_000307.1:p.Arg51Gln NC_000003.12:46893982:G:A p.(Arg51Gln) NC_000003.12:46893982:G:A p.(Arg51Gln) NC_000003.12:46893982:G:A Identity +NM_020745.4:c.367C>T NP_065796.2:p.Arg123Ter NC_000006.12:44312139:G:A p.(Arg123Ter) NC_000006.12:44312139:G:A p.(Arg123Ter) NC_000006.12:44312139:G:A Identity +NM_001199799.2:c.1148G>A NP_001186728.1:p.Arg383Gln NC_000003.12:121993600:C:T p.(Arg383Gln) NC_000003.12:121993600:C:T p.(Arg383Gln) NC_000003.12:121993600:C:T Identity +NM_001252043.2:c.1930C>T NP_001238972.1:p.Arg644Cys NC_000016.10:29985798:C:T p.(Arg644Cys) NC_000016.10:29985798:C:T p.(Arg644Cys) NC_000016.10:29985798:C:T Identity +NM_000147.5:c.1180G>A NP_000138.2:p.Ala394Thr NC_000001.11:23846153:C:T p.(Ala394Thr) NC_000001.11:23846153:C:T p.(Ala394Thr) NC_000001.11:23846153:C:T Identity +NM_000335.5:c.2761C>A NP_000326.2:p.Leu921Ile NC_000003.12:38585716:G:T p.(Leu921Ile) NC_000003.12:38585716:G:T p.(Leu921Ile) NC_000003.12:38585716:G:T Identity +NM_001371533.1:c.1360A>G NP_001358462.1:p.Ile454Val NC_000014.9:65733330:A:G p.(Ile454Val) NC_000014.9:65733330:A:G p.(Ile454Val) NC_000014.9:65733330:A:G Identity +NM_001199922.2:c.1309C>T NP_001186851.1:p.His437Tyr NC_000011.10:124637108:G:A p.(His437Tyr) NC_000011.10:124637108:G:A p.(His437Tyr) NC_000011.10:124637108:G:A Identity +NM_005560.6:c.6610C>T NP_005551.3:p.Arg2204Cys NC_000020.11:62320776:G:A p.(Arg2204Cys) NC_000020.11:62320776:G:A p.(Arg2204Cys) NC_000020.11:62320776:G:A Identity +NM_001098.3:c.1472C>T NP_001089.1:p.Thr491Met NC_000022.11:41523930:C:T p.(Thr491Met) NC_000022.11:41523930:C:T p.(Thr491Met) NC_000022.11:41523930:C:T Identity +NM_002080.4:c.272dup NP_002071.2:p.Asn91fs NC_000016.10:58722252:TTTTTT:TTTTTTT p.(Asn91LysfsTer14) NC_000016.10:58722252:TTTTTT:TTTTTTT p.(Asn91LysfsTer14) ERR:SPDI Analogous +NM_001164317.2:c.4504G>T NP_001157789.1:p.Val1502Leu NC_000003.12:58132827:G:T p.(Val1502Leu) NC_000003.12:58132827:G:T p.(Val1502Leu) NC_000003.12:58132827:G:T Identity +NM_001040142.2:c.526G>T NP_001035232.1:p.Ala176Ser NC_000002.12:165308714:G:T p.(Ala176Ser) NC_000002.12:165308714:G:T p.(Ala176Ser) NC_000002.12:165308714:G:T Identity +NM_015378.4:c.7106G>A NP_056193.2:p.Ser2369Asn NC_000001.11:12314284:G:A p.(Ser2369Asn) NC_000001.11:12314284:G:A p.(Ser2369Asn) NC_000001.11:12314284:G:A Identity +NM_005733.3:c.874C>A NP_005724.1:p.Pro292Thr NC_000005.10:138183209:C:A p.(Pro292Thr) NC_000005.10:138183209:C:A p.(Pro292Thr) NC_000005.10:138183209:C:A Identity +NM_001306079.2:c.6248G>T NP_001293008.1:p.Arg2083Leu NC_000002.12:27242929:G:T p.(Arg2083Leu) NC_000002.12:27242929:G:T p.(Arg2083Leu) NC_000002.12:27242929:G:T Identity +NM_001004334.4:c.4139C>T NP_001004334.3:p.Pro1380Leu NC_000017.11:38329429:G:A p.(Pro1380Leu) NC_000017.11:38329429:G:A p.(Pro1380Leu) NC_000017.11:38329429:G:A Identity +NM_001367904.1:c.2701C>T NP_001354833.1:p.Arg901Trp NC_000011.10:117480526:G:A p.(Arg901Trp) NC_000011.10:117480526:G:A p.(Arg901Trp) NC_000011.10:117480526:G:A Identity +NM_024529.5:c.1283T>C NP_078805.3:p.Val428Ala NC_000001.11:193233120:T:C p.(Val428Ala) NC_000001.11:193233120:T:C p.(Val428Ala) NC_000001.11:193233120:T:C Identity +NM_001143839.4:c.301C>T NP_001137311.1:p.Arg101Trp NC_000011.10:72605138:G:A p.(Arg101Trp) NC_000011.10:72605138:G:A p.(Arg101Trp) NC_000011.10:72605138:G:A Identity +NM_001006600.3:c.1073A>T NP_001006600.1:p.Glu358Val NC_000005.10:66026353:A:T p.(Glu358Val) NC_000005.10:66026353:A:T p.(Glu358Val) NC_000005.10:66026353:A:T Identity +NM_001278192.2:c.853C>T NP_001265121.1:p.Arg285Trp NC_000011.10:62631050:G:A p.(Arg285Trp) NC_000011.10:62631050:G:A p.(Arg285Trp) NC_000011.10:62631050:G:A Identity +NM_145290.4:c.1466T>C NP_660333.2:p.Ile489Thr NC_000004.12:22424329:A:G p.(Ile489Thr) NC_000004.12:22424329:A:G p.(Ile489Thr) NC_000004.12:22424329:A:G Identity +NM_001089.3:c.1612G>A NP_001080.2:p.Val538Met NC_000016.10:2299531:C:T p.(Val538Met) NC_000016.10:2299531:C:T p.(Val538Met) NC_000016.10:2299531:C:T Identity +NM_000929.3:c.399del NP_000920.1:p.Asn134fs NC_000001.11:20090671:CCC:CC p.(Asn134ThrfsTer82) NC_000001.11:20090671:CCC:CC p.(Asn134ThrfsTer82) NC_000001.11:20090673:C: Analogous +NM_015384.5:c.134G>A NP_056199.2:p.Arg45Gln NC_000005.10:36955540:G:A p.(Arg45Gln) NC_000005.10:36955540:G:A p.(Arg45Gln) NC_000005.10:36955540:G:A Identity +NM_001350411.1:c.41C>T NP_001337340.1:p.Thr14Met NC_000006.12:71887063:C:T p.(Thr14Met) NC_000006.12:71887063:C:T p.(Thr14Met) NC_000006.12:71887063:C:T Identity +NM_001291285.3:c.8447C>T NP_001278214.1:p.Ala2816Val NC_000004.12:125449456:C:T p.(Ala2816Val) NC_000004.12:125449456:C:T p.(Ala2816Val) NC_000004.12:125449456:C:T Identity +NM_001354689.3:c.1785G>C NP_001341618.1:p.Lys595Asn NC_000003.12:12584924:C:G p.(Lys595Asn) NC_000003.12:12584924:C:G p.(Lys595Asn) NC_000003.12:12584924:C:G Identity +NM_001846.4:c.4976A>G NP_001837.2:p.Asn1659Ser NC_000013.11:110512027:A:G p.(Asn1659Ser) NC_000013.11:110512027:A:G p.(Asn1659Ser) NC_000013.11:110512027:A:G Identity +NM_032040.5:c.1342G>C NP_114429.2:p.Ala448Pro NC_000019.10:46411468:C:G p.(Ala448Pro) NC_000019.10:46411468:C:G p.(Ala448Pro) NC_000019.10:46411468:C:G Identity +NM_025114.4:c.6067A>G NP_079390.3:p.Arg2023Gly NC_000012.12:88068589:T:C p.(Arg2023Gly) NC_000012.12:88068589:T:C p.(Arg2023Gly) NC_000012.12:88068589:T:C Identity +NM_003038.5:c.49G>A NP_003029.2:p.Gly17Arg NC_000002.12:64989691:G:A p.(Gly17Arg) NC_000002.12:64989691:G:A p.(Gly17Arg) NC_000002.12:64989691:G:A Identity +NM_001080476.3:c.698T>C NP_001073945.1:p.Val233Ala NC_000004.12:43030364:T:C p.(Val233Ala) NC_000004.12:43030364:T:C p.(Val233Ala) NC_000004.12:43030364:T:C Identity +NM_000260.4:c.6509C>G NP_000251.3:p.Thr2170Ser NC_000011.10:77213929:C:G p.(Thr2170Ser) NC_000011.10:77213929:C:G p.(Thr2170Ser) NC_000011.10:77213929:C:G Identity +NM_001042544.1:c.4588G>A NP_001036009.1:p.Glu1530Lys NC_000019.10:40627724:G:A p.(Glu1530Lys) NC_000019.10:40627724:G:A p.(Glu1530Lys) NC_000019.10:40627724:G:A Identity +NM_170606.3:c.9274A>G NP_733751.2:p.Ile3092Val NC_000007.14:152174230:T:C p.(Ile3092Val) NC_000007.14:152174230:T:C p.(Ile3092Val) NC_000007.14:152174230:T:C Identity +NM_000720.4:c.3297C>G NP_000711.1:p.Asn1099Lys NC_000003.12:53747370:C:G p.(Asn1099Lys) NC_000003.12:53747370:C:G p.(Asn1099Lys) NC_000003.12:53747370:C:G Identity +NM_002838.5:c.2101G>A NP_002829.3:p.Gly701Arg NC_000001.11:198732514:G:A p.(Gly701Arg) NC_000001.11:198732514:G:A p.(Gly701Arg) NC_000001.11:198732514:G:A Identity +NM_001164317.2:c.1204G>A NP_001157789.1:p.Val402Met NC_000003.12:58098766:G:A p.(Val402Met) NC_000003.12:58098766:G:A p.(Val402Met) NC_000003.12:58098766:G:A Identity +NM_001105206.3:c.1057G>T NP_001098676.2:p.Val353Leu NC_000006.12:112185256:C:A p.(Val353Leu) NC_000006.12:112185256:C:A p.(Val353Leu) NC_000006.12:112185256:C:A Identity +NM_024652.6:c.451C>T NP_078928.3:p.Arg151Trp NC_000015.10:100988650:C:T p.(Arg151Trp) NC_000015.10:100988650:C:T p.(Arg151Trp) NC_000015.10:100988650:C:T Identity +NM_001177310.2:c.1616A>G NP_001170781.1:p.Lys539Arg NC_000009.12:74808040:T:C p.(Lys539Arg) NC_000009.12:74808040:T:C p.(Lys539Arg) NC_000009.12:74808040:T:C Identity +NM_001254.4:c.941T>C NP_001245.1:p.Ile314Thr NC_000017.11:40294053:T:C p.(Ile314Thr) NC_000017.11:40294053:T:C p.(Ile314Thr) NC_000017.11:40294053:T:C Identity +NM_001286577.2:c.553A>G NP_001273506.1:p.Thr185Ala NC_000011.10:74139758:T:C p.(Thr185Ala) NC_000011.10:74139758:T:C p.(Thr185Ala) NC_000011.10:74139758:T:C Identity +NM_001164665.2:c.5564C>T NP_001158137.1:p.Ser1855Leu NC_000007.14:138840166:G:A p.(Ser1855Leu) NC_000007.14:138840166:G:A p.(Ser1855Leu) NC_000007.14:138840166:G:A Identity +NM_144772.3:c.758del NP_658985.2:p.Gly253fs NC_000001.11:156593973:GG:G p.(Gly253ValfsTer21) NC_000001.11:156593973:GG:G p.(Gly253ValfsTer21) NC_000001.11:156593974:G: Analogous +NM_000056.5:c.1162A>G NP_000047.1:p.Lys388Glu NC_000006.12:80343786:A:G p.(Lys388Glu) NC_000006.12:80343786:A:G p.(Lys388Glu) NC_000006.12:80343786:A:G Identity +NM_001270523.2:c.368C>T NP_001257452.1:p.Ser123Leu NC_000014.9:56802236:G:A p.(Ser123Leu) NC_000014.9:56802236:G:A p.(Ser123Leu) NC_000014.9:56802236:G:A Identity +NM_001354705.2:c.475G>A NP_001341634.1:p.Val159Met NC_000012.12:57568989:G:A p.(Val159Met) NC_000012.12:57568989:G:A p.(Val159Met) NC_000012.12:57568989:G:A Identity +NM_000719.7:c.6329G>C NP_000710.5:p.Gly2110Ala NC_000012.12:2691110:G:C p.(Gly2110Ala) NC_000012.12:2691110:G:C p.(Gly2110Ala) NC_000012.12:2691110:G:C Identity +NM_001306079.2:c.4205C>T NP_001293008.1:p.Pro1402Leu NC_000002.12:27236827:C:T p.(Pro1402Leu) NC_000002.12:27236827:C:T p.(Pro1402Leu) NC_000002.12:27236827:C:T Identity +NM_005857.5:c.395T>C NP_005848.2:p.Leu132Pro NC_000001.11:40268455:T:C p.(Leu132Pro) NC_000001.11:40268455:T:C p.(Leu132Pro) NC_000001.11:40268455:T:C Identity +NM_000541.5:c.575C>T NP_000532.2:p.Pro192Leu NC_000002.12:233328539:C:T p.(Pro192Leu) NC_000002.12:233328539:C:T p.(Pro192Leu) NC_000002.12:233328539:C:T Identity +NM_006012.4:c.770C>T NP_006003.1:p.Thr257Met NC_000019.10:6368645:C:T p.(Thr257Met) NC_000019.10:6368645:C:T p.(Thr257Met) NC_000019.10:6368645:C:T Identity +NM_001364948.3:c.590G>A NP_001351877.1:p.Gly197Asp NC_000007.14:141633901:G:A p.(Gly197Asp) NC_000007.14:141633901:G:A p.(Gly197Asp) NC_000007.14:141633901:G:A Identity +NM_001410858.1:c.4214A>G NP_001397787.1:p.Asn1405Ser NC_000018.10:45908072:T:C p.(Asn1405Ser) NC_000018.10:45908072:T:C p.(Asn1405Ser) NC_000018.10:45908072:T:C Identity +NM_000253.4:c.1997T>C NP_000244.2:p.Ile666Thr NC_000004.12:99612919:T:C p.(Ile666Thr) NC_000004.12:99612919:T:C p.(Ile666Thr) NC_000004.12:99612919:T:C Identity +NM_004655.4:c.1894C>T NP_004646.3:p.Pro632Ser NC_000017.11:65536881:G:A p.(Pro632Ser) NC_000017.11:65536881:G:A p.(Pro632Ser) NC_000017.11:65536881:G:A Identity +NM_001321851.1:c.4037A>G NP_001308780.1:p.Gln1346Arg NC_000014.9:92003935:T:C p.(Gln1346Arg) NC_000014.9:92003935:T:C p.(Gln1346Arg) NC_000014.9:92003935:T:C Identity +NM_002500.5:c.253G>A NP_002491.3:p.Gly85Ser NC_000002.12:181678607:C:T p.(Gly85Ser) NC_000002.12:181678607:C:T p.(Gly85Ser) NC_000002.12:181678607:C:T Identity +NM_001190818.2:c.1130A>G NP_001177747.1:p.His377Arg NC_000001.11:52389273:T:C p.(His377Arg) NC_000001.11:52389273:T:C p.(His377Arg) NC_000001.11:52389273:T:C Identity +NM_001004334.4:c.3491T>A NP_001004334.3:p.Met1164Lys NC_000017.11:38330077:A:T p.(Met1164Lys) NC_000017.11:38330077:A:T p.(Met1164Lys) NC_000017.11:38330077:A:T Identity +NM_001291285.3:c.3577C>G NP_001278214.1:p.Gln1193Glu NC_000004.12:125319987:C:G p.(Gln1193Glu) NC_000004.12:125319987:C:G p.(Gln1193Glu) NC_000004.12:125319987:C:G Identity +NM_005908.4:c.2561T>C NP_005899.3:p.Leu854Ser NC_000004.12:102632135:A:G p.(Leu854Ser) NC_000004.12:102632135:A:G p.(Leu854Ser) NC_000004.12:102632135:A:G Identity +NM_000843.4:c.1696C>T NP_000834.2:p.Pro566Ser NC_000005.10:178986557:G:A p.(Pro566Ser) NC_000005.10:178986557:G:A p.(Pro566Ser) NC_000005.10:178986557:G:A Identity +NM_032790.4:c.544A>G NP_116179.2:p.Ile182Val NC_000012.12:121641280:A:G p.(Ile182Val) NW_018654719.1:47051:A:G p.(Ile182Val) NC_000012.12:47051:C:G Identity +NM_001330360.2:c.3004C>G NP_001317289.1:p.Leu1002Val NC_000023.11:24810713:C:G p.(Leu1002Val) NC_000023.11:24810713:C:G p.(Leu1002Val) NC_000023.11:24810713:C:G Identity +NM_001193416.3:c.3G>A NP_001180345.1:p.Met1Ile NC_000023.11:41334254:G:A p.(Met1Ile) NC_000023.11:41334254:G:A p.Met1? NC_000023.11:41334254:G:A Identity +NM_006978.3:c.975G>T NP_008909.1:p.Glu325Asp NC_000023.11:119870638:C:A p.(Glu325Asp) NC_000023.11:119870638:C:A p.(Glu325Asp) NC_000023.11:119870638:C:A Identity +NM_001084.5:c.1828G>A NP_001075.1:p.Val610Met NC_000007.14:101207684:C:T p.(Val610Met) NC_000007.14:101207684:C:T p.(Val610Met) NC_000007.14:101207684:C:T Identity +NM_001942.4:c.77G>A NP_001933.2:p.Arg26Gln NC_000018.10:31326608:G:A p.(Arg26Gln) NC_000018.10:31326608:G:A p.(Arg26Gln) NC_000018.10:31326608:G:A Identity +NM_001136139.4:c.1699C>T NP_001129611.1:p.Arg567Trp NC_000019.10:1612320:G:A p.(Arg567Trp) NC_000019.10:1612320:G:A p.(Arg567Trp) NC_000019.10:1612320:G:A Identity +NM_001313915.2:c.509C>A NP_001300844.1:p.Ala170Glu NC_000002.12:88590857:G:T p.(Ala170Glu) NC_000002.12:88590857:G:T p.(Ala170Glu) NC_000002.12:88590857:G:T Identity +NM_001271052.1:c.136C>T NP_001257981.1:p.Arg46Cys NC_000019.10:14774000:G:A p.(Arg46Cys) NC_000019.10:14774000:G:A p.(Arg46Cys) NC_000019.10:14774000:G:A Identity +NM_000183.3:c.982G>A NP_000174.1:p.Ala328Thr NC_000002.12:26282892:G:A p.(Ala328Thr) NC_000002.12:26282892:G:A p.(Ala328Thr) NC_000002.12:26282892:G:A Identity +NM_001385400.1:c.8C>T NP_001372329.1:p.Ser3Leu NC_000014.9:24162151:C:T p.(Ser3Leu) NC_000014.9:24162151:C:T p.(Ser3Leu) NC_000014.9:24162151:C:T Identity +NM_015971.4:c.539G>A NP_057055.2:p.Arg180His NC_000017.11:75265732:G:A p.(Arg180His) NC_000017.11:75265732:G:A p.(Arg180His) NC_000017.11:75265732:G:A Identity +NM_005876.5:c.4297C>T NP_005867.3:p.Arg1433Trp NC_000002.12:219473752:C:T p.(Arg1433Trp) NC_000002.12:219473752:C:T p.(Arg1433Trp) NC_000002.12:219473752:C:T Identity +NM_001029883.3:c.3749G>A NP_001025054.1:p.Arg1250His NC_000002.12:29064986:C:T p.(Arg1250His) NC_000002.12:29064986:C:T p.(Arg1250His) NC_000002.12:29064986:C:T Identity +NM_139057.4:c.2624C>G NP_620688.2:p.Ala875Gly NC_000015.10:99997556:G:C p.(Ala875Gly) NC_000015.10:99997556:G:C p.(Ala875Gly) NC_000015.10:99997556:G:C Identity +NM_001384732.1:c.6479G>A NP_001371661.1:p.Ser2160Asn NC_000005.10:37169544:C:T p.(Ser2160Asn) NC_000005.10:37169544:C:T p.(Ser2160Asn) NC_000005.10:37169544:C:T Identity +NM_001130991.3:c.1181A>C NP_001124463.1:p.Glu394Ala NC_000011.10:119052113:T:G p.(Glu394Ala) NC_000011.10:119052113:T:G p.(Glu394Ala) NC_000011.10:119052113:T:G Identity +NM_001171.6:c.4402C>T NP_001162.5:p.Arg1468Trp NC_000016.10:16150578:G:A p.(Arg1468Trp) NC_000016.10:16150578:G:A p.(Arg1468Trp) NC_000016.10:16150578:G:A Identity +NM_000057.4:c.449C>T NP_000048.1:p.Thr150Ile NC_000015.10:90749716:C:T p.(Thr150Ile) NC_000015.10:90749716:C:T p.(Thr150Ile) NC_000015.10:90749716:C:T Identity +NM_001370490.1:c.55G>A NP_001357419.1:p.Ala19Thr NC_000016.10:19067718:G:A p.(Ala19Thr) NC_000016.10:19067718:G:A p.(Ala19Thr) NC_000016.10:19067718:G:A Identity +NM_001031734.4:c.412G>A NP_001026904.2:p.Asp138Asn NC_000019.10:10310634:C:T ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found ERR:AlignmentMapper(tx_ac=NM_001031734.4, alt_ac=NM_001031734.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031734.4, alt_ac=NM_001031734.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031734.4 not found +NM_001163022.3:c.1492G>A NP_001156494.1:p.Gly498Ser NC_000020.11:21232750:G:A p.(Gly498Ser) NC_000020.11:21232750:G:A p.(Gly498Ser) NC_000020.11:21232750:G:A Identity +NM_001916.5:c.47G>C NP_001907.3:p.Arg16Pro NC_000008.11:144095145:G:C p.(Arg16Pro) NC_000008.11:144095145:G:C p.(Arg16Pro) NC_000008.11:144095145:G:C Identity +NM_033071.5:c.12167A>G NP_149062.2:p.Asn4056Ser NC_000006.12:152336988:T:C p.(Asn4056Ser) NC_000006.12:152336988:T:C p.(Asn4056Ser) NC_000006.12:152336988:T:C Identity +NM_001144769.5:c.15846dup NP_001138241.1:p.Tyr5283fs NC_000006.12:56471223:TTTTTT:TTTTTTT p.(Tyr5283IlefsTer20) NC_000006.12:56471223:TTTTTT:TTTTTTT p.(Tyr5283IlefsTer20) ERR:SPDI Analogous +NM_020778.5:c.1384G>A NP_065829.4:p.Ala462Thr NC_000015.10:84840662:G:A p.(Ala462Thr) NC_000015.10:84840662:G:A p.(Ala462Thr) NC_000015.10:84840662:G:A Identity +NM_001101362.3:c.191T>G NP_001094832.1:p.Val64Gly NC_000015.10:65077005:T:G p.(Val64Gly) NC_000015.10:65077005:T:G p.(Val64Gly) NC_000015.10:65077005:T:G Identity +NM_001198989.2:c.299A>C NP_001185918.1:p.Glu100Ala NC_000020.11:35697708:T:G p.(Glu100Ala) NC_000020.11:35697708:T:G p.(Glu100Ala) NC_000020.11:35697708:T:G Identity +NM_004104.5:c.4166T>C NP_004095.4:p.Val1389Ala NC_000017.11:82085358:A:G p.(Val1389Ala) NC_000017.11:82085358:A:G p.(Val1389Ala) NC_000017.11:82085358:A:G Identity +NM_001011649.3:c.3763C>T NP_001011649.1:p.Leu1255Phe NC_000009.12:120437486:G:A p.(Leu1255Phe) NC_000009.12:120437486:G:A p.(Leu1255Phe) NC_000009.12:120437486:G:A Identity +NM_020693.4:c.6062G>A NP_065744.3:p.Gly2021Glu NC_000011.10:117428427:C:T p.(Gly2021Glu) NC_000011.10:117428427:C:T p.(Gly2021Glu) NC_000011.10:117428427:C:T Identity +NM_001005207.5:c.169C>A NP_001005207.1:p.Pro57Thr NC_000017.11:59088402:G:T p.(Pro57Thr) NC_000017.11:59088402:G:T p.(Pro57Thr) NC_000017.11:59088402:G:T Identity +NM_000878.5:c.800G>A NP_000869.1:p.Cys267Tyr NC_000022.11:37135345:C:T p.(Cys267Tyr) NC_000022.11:37135345:C:T p.(Cys267Tyr) NC_000022.11:37135345:C:T Identity +NM_001318860.2:c.145A>G NP_001305789.1:p.Ser49Gly NC_000002.12:73946898:A:G p.(Ser49Gly) NC_000002.12:73946898:A:G p.(Ser49Gly) NC_000002.12:73946898:A:G Identity +NM_001276326.2:c.268C>T NP_001263255.1:p.Arg90Cys NC_000011.10:64591823:C:T p.(Arg90Cys) NC_000011.10:64591823:C:T p.(Arg90Cys) NC_000011.10:64591823:C:T Identity +NM_001282684.2:c.580G>A NP_001269613.2:p.Gly194Arg NC_000022.11:37059405:G:A p.(Gly194Arg) NC_000022.11:37059405:G:A p.(Gly194Arg) NC_000022.11:37059405:G:A Identity +NM_145290.4:c.14G>T NP_660333.2:p.Gly5Val NC_000004.12:22515770:C:A p.(Gly5Val) NC_000004.12:22515770:C:A p.(Gly5Val) NC_000004.12:22515770:C:A Identity +NM_001317964.2:c.2799G>A NP_001304893.1:p.Met933Ile NC_000005.10:146126488:C:T p.(Met933Ile) NC_000005.10:146126488:C:T p.(Met933Ile) NC_000005.10:146126488:C:T Identity +NM_001291880.1:c.365G>A NP_001278809.1:p.Arg122Gln NC_000001.11:112516376:G:A p.(Arg122Gln) NC_000001.11:112516376:G:A p.(Arg122Gln) NC_000001.11:112516376:G:A Identity +NM_014510.3:c.3587A>G NP_055325.2:p.Glu1196Gly NC_000007.14:82966200:T:C p.(Glu1196Gly) NC_000007.14:82966200:T:C p.(Glu1196Gly) NC_000007.14:82966200:T:C Identity +NM_001304482.2:c.760C>A NP_001291411.1:p.Leu254Ile NC_000003.12:47407908:C:A p.(Leu254Ile) NC_000003.12:47407908:C:A p.(Leu254Ile) NC_000003.12:47407908:C:A Identity +NM_000902.5:c.851C>T NP_000893.2:p.Ala284Val NC_000003.12:155138231:C:T p.(Ala284Val) NC_000003.12:155138231:C:T p.(Ala284Val) NC_000003.12:155138231:C:T Identity +NM_000562.3:c.620G>A NP_000553.1:p.Arg207Gln NC_000001.11:56881599:G:A p.(Arg207Gln) NC_000001.11:56881599:G:A p.(Arg207Gln) NC_000001.11:56881599:G:A Identity +NM_052854.4:c.272G>C NP_443086.1:p.Ser91Thr NC_000011.10:46300103:G:C p.(Ser91Thr) NC_000011.10:46300103:G:C p.(Ser91Thr) NC_000011.10:46300103:G:C Identity +NM_001127660.2:c.1642G>C NP_001121132.1:p.Gly548Arg NC_000001.11:12005856:G:C p.(Gly548Arg) NC_000001.11:12005856:G:C p.(Gly548Arg) NC_000001.11:12005856:G:C Identity +NM_006660.5:c.22A>G NP_006651.2:p.Thr8Ala NC_000015.10:65185131:T:C p.(Thr8Ala) NC_000015.10:65185131:T:C p.(Thr8Ala) NC_000015.10:65185131:T:C Identity +NM_000122.2:c.347A>G NP_000113.1:p.Tyr116Cys NC_000002.12:127292733:T:C p.(Tyr116Cys) NC_000002.12:127292733:T:C p.(Tyr116Cys) NC_000002.12:127292733:T:C Identity +NM_001130089.2:c.1657G>C NP_001123561.1:p.Glu553Gln NC_000016.10:75628690:C:G p.(Glu553Gln) NC_000016.10:75628690:C:G p.(Glu553Gln) NC_000016.10:75628690:C:G Identity +NM_032166.4:c.89dup NP_115542.2:p.Ser31fs NC_000003.12:48446928:CCCCCC:CCCCCCC p.(Ser31GlufsTer16) NC_000003.12:48446928:CCCCCC:CCCCCCC p.(Ser31GlufsTer16) ERR:SPDI Analogous +NM_006063.3:c.1712A>G NP_006054.2:p.Tyr571Cys NC_000002.12:169525586:A:G p.(Tyr571Cys) NC_000002.12:169525586:A:G p.(Tyr571Cys) NC_000002.12:169525586:A:G Identity +NM_001621.5:c.2498C>T NP_001612.1:p.Pro833Leu NC_000007.14:17343014:C:T p.(Pro833Leu) NC_000007.14:17343014:C:T p.(Pro833Leu) NC_000007.14:17343014:C:T Identity +NM_033109.5:c.1718A>C NP_149100.2:p.Glu573Ala NC_000002.12:55646278:T:G p.(Glu573Ala) NC_000002.12:55646278:T:G p.(Glu573Ala) NC_000002.12:55646278:T:G Identity +NM_000434.4:c.173T>C NP_000425.1:p.Val58Ala NC_000006.12:31862177:A:G p.(Val58Ala) NC_000006.12:31862177:A:G p.(Val58Ala) NC_000006.12:31862177:A:G Identity +NM_001256850.1:c.102220G>A NP_001243779.1:p.Glu34074Lys NC_000002.12:178528607:C:T p.(Glu34074Lys) NC_000002.12:178528607:C:T p.(Glu34074Lys) NC_000002.12:178528607:C:T Identity +NM_206933.4:c.12929G>T NP_996816.3:p.Ser4310Ile NC_000001.11:215674981:C:A p.(Ser4310Ile) NC_000001.11:215674981:C:A p.(Ser4310Ile) NC_000001.11:215674981:C:A Identity +NM_030957.4:c.281G>A NP_112219.3:p.Ser94Asn NC_000019.10:8605165:C:T p.(Ser94Asn) NC_000019.10:8605165:C:T p.(Ser94Asn) NC_000019.10:8605165:C:T Identity +NM_001122955.4:c.1087GAG[1] NP_001116427.1:p.Glu364del NC_000011.10:62690847:CTCCTCCT:CTCCT p.(Glu364del) NC_000011.10:62690852:C:CTC ERR:Parse ERR:Parse Identity +NM_001242307.2:c.2360C>T NP_001229236.1:p.Pro787Leu NC_000010.11:3145695:G:A p.(Pro787Leu) NC_000010.11:3145695:G:A p.(Pro787Leu) NC_000010.11:3145695:G:A Identity +NM_001160130.2:c.2426T>C NP_001153602.1:p.Val809Ala NC_000006.12:73195067:T:C p.(Val809Ala) NC_000006.12:73195067:T:C p.(Val809Ala) NC_000006.12:73195067:T:C Identity +NM_001257970.1:c.1855G>T NP_001244899.1:p.Asp619Tyr NC_000017.11:80201746:G:T p.(Asp619Tyr) NC_000017.11:80201746:G:T p.(Asp619Tyr) NC_000017.11:80201746:G:T Identity +NM_001135649.3:c.901_903del NP_001129121.1:p.Pro301del NC_000002.12:88448566:AGGAG:AG p.(Pro301del) NC_000002.12:88448566:AGGAG:AG p.(Pro301del) NC_000002.12:88448566:AGG: Identity +NM_173477.5:c.281T>C NP_775748.2:p.Leu94Pro NC_000017.11:74920554:A:G p.(Leu94Pro) NC_000017.11:74920554:A:G p.(Leu94Pro) NC_000017.11:74920554:A:G Identity +NM_001306079.2:c.4393C>T NP_001293008.1:p.Arg1465Trp NC_000002.12:27237735:C:T p.(Arg1465Trp) NC_000002.12:27237735:C:T p.(Arg1465Trp) NC_000002.12:27237735:C:T Identity +NM_001199107.2:c.1655G>T NP_001186036.1:p.Gly552Val NC_000016.10:2500932:G:T p.(Gly552Val) NC_000016.10:2500932:G:T p.(Gly552Val) NC_000016.10:2500932:G:T Identity +NM_001126105.3:c.110dup NP_001119577.1:p.Ser38fs NC_000014.9:22813288:A:AA p.(Ser38LeufsTer4) NC_000014.9:22813288:A:AA p.(Ser38LeufsTer4) ERR:SPDI Analogous +NM_199165.2:c.53G>A NP_954634.1:p.Arg18Lys NC_000014.9:104729944:G:A p.(Arg18Lys) NC_000014.9:104729944:G:A p.(Arg18Lys) NC_000014.9:104729944:G:A Identity +NM_001318245.2:c.5182C>T NP_001305174.1:p.Arg1728Trp NC_000022.11:25908351:C:T p.(Arg1728Trp) NC_000022.11:25908351:C:T p.(Arg1728Trp) NC_000022.11:25908351:C:T Identity +NM_020778.5:c.2885A>G NP_065829.4:p.Asn962Ser NC_000015.10:84857622:A:G p.(Asn962Ser) NC_000015.10:84857622:A:G p.(Asn962Ser) NC_000015.10:84857622:A:G Identity +NM_001310332.2:c.1622G>A NP_001297261.1:p.Arg541His NC_000014.9:24151936:G:A p.(Arg541His) NC_000014.9:24151936:G:A p.(Arg541His) NC_000014.9:24151936:G:A Identity +NM_001282933.2:c.2479A>G NP_001269862.1:p.Asn827Asp NC_000020.11:33791430:A:G p.(Asn827Asp) NC_000020.11:33791430:A:G p.(Asn827Asp) NC_000020.11:33791430:A:G Identity +NM_001374321.1:c.295A>G NP_001361250.1:p.Ile99Val NC_000008.11:100165967:A:G p.(Ile99Val) NC_000008.11:100165967:A:G p.(Ile99Val) NC_000008.11:100165967:A:G Identity +NM_031935.3:c.6730C>T NP_114141.2:p.Arg2244Ter NC_000001.11:186053853:C:T p.(Arg2244Ter) NC_000001.11:186053853:C:T p.(Arg2244Ter) NC_000001.11:186053853:C:T Identity +NM_001011554.3:c.61G>A NP_001011554.1:p.Val21Ile NC_000020.11:46613634:C:T p.(Val21Ile) NC_000020.11:46613634:C:T p.(Val21Ile) NC_000020.11:46613634:C:T Identity +NM_002427.4:c.1336G>A NP_002418.1:p.Gly446Arg NC_000011.10:102944345:C:T p.(Gly446Arg) NC_000011.10:102944345:C:T p.(Gly446Arg) NC_000011.10:102944345:C:T Identity +NM_001008738.3:c.2713A>C NP_001008738.3:p.Ile905Leu NC_000005.10:131671646:T:G p.(Ile905Leu) NC_000005.10:131671646:T:G p.(Ile905Leu) NC_000005.10:131671646:T:G Identity +NM_001324281.3:c.1978C>T NP_001311210.1:p.Arg660Trp NC_000007.14:2923295:G:A p.(Arg660Trp) NC_000007.14:2923295:G:A p.(Arg660Trp) NC_000007.14:2923295:G:A Identity +NM_032119.4:c.13247G>A NP_115495.3:p.Gly4416Glu NC_000005.10:90783138:G:A p.(Gly4416Glu) NC_000005.10:90783138:G:A p.(Gly4416Glu) NC_000005.10:90783138:G:A Identity +NM_001164507.2:c.2240C>A NP_001157979.2:p.Thr747Asn NC_000002.12:151690796:G:T p.(Thr747Asn) NC_000002.12:151690796:G:T p.(Thr747Asn) NC_000002.12:151690796:G:T Identity +NM_014510.3:c.6752C>T NP_055325.2:p.Ala2251Val NC_000007.14:82954200:G:A p.(Ala2251Val) NC_000007.14:82954200:G:A p.(Ala2251Val) NC_000007.14:82954200:G:A Identity +NM_001184976.2:c.582T>A NP_001171905.1:p.Asp194Glu NC_000012.12:54509981:T:A p.(Asp194Glu) NC_000012.12:54509981:T:A p.(Asp194Glu) NC_000012.12:54509981:T:A Identity +NM_001025356.3:c.2327T>C NP_001020527.2:p.Ile776Thr NC_000012.12:45421179:T:C p.(Ile776Thr) NC_000012.12:45421179:T:C p.(Ile776Thr) NC_000012.12:45421179:T:C Identity +NM_001170629.2:c.6640C>T NP_001164100.1:p.Pro2214Ser NC_000014.9:21392637:G:A p.(Pro2214Ser) NC_000014.9:21392637:G:A p.(Pro2214Ser) NC_000014.9:21392637:G:A Identity +NM_032242.4:c.5311G>T NP_115618.3:p.Ala1771Ser NC_000003.12:127032465:G:T p.(Ala1771Ser) NC_000003.12:127032465:G:T p.(Ala1771Ser) NC_000003.12:127032465:G:T Identity +NM_206933.4:c.8725G>T NP_996816.3:p.Gly2909Cys NC_000001.11:215867126:C:A p.(Gly2909Cys) NC_000001.11:215867126:C:A p.(Gly2909Cys) NC_000001.11:215867126:C:A Identity +NM_001372.4:c.7114C>G NP_001363.2:p.His2372Asp NC_000017.11:11763557:C:G p.(His2372Asp) NC_000017.11:11763557:C:G p.(His2372Asp) NC_000017.11:11763557:C:G Identity +NM_001029883.3:c.1424C>T NP_001025054.1:p.Pro475Leu NC_000002.12:29072837:G:A p.(Pro475Leu) NC_000002.12:29072837:G:A p.(Pro475Leu) NC_000002.12:29072837:G:A Identity +NM_001099222.3:c.149C>T NP_001092692.1:p.Ser50Phe NC_000009.12:26978155:C:T p.(Ser50Phe) NC_000009.12:26978155:C:T p.(Ser50Phe) NC_000009.12:26978155:C:T Identity +NM_000142.5:c.770C>T NP_000133.1:p.Ala257Val NC_000004.12:1801864:C:T p.(Ala257Val) NC_000004.12:1801864:C:T p.(Ala257Val) NC_000004.12:1801864:C:T Identity +NM_203447.4:c.59C>T NP_982272.2:p.Ser20Phe NC_000009.12:271631:C:T p.(Ser20Phe) NC_000009.12:271631:C:T p.(Ser20Phe) NC_000009.12:271631:C:T Identity +NM_001271938.2:c.1117G>A NP_001258867.1:p.Gly373Arg NC_000019.10:42336218:G:A p.(Gly373Arg) NC_000019.10:42336218:G:A p.(Gly373Arg) NC_000019.10:42336218:G:A Identity +NM_000188.3:c.1418C>T NP_000179.2:p.Thr473Ile NC_000010.11:69382638:C:T p.(Thr473Ile) NC_000010.11:69382638:C:T p.(Thr473Ile) NC_000010.11:69382638:C:T Identity +NM_000135.4:c.3293A>G NP_000126.2:p.Glu1098Gly NC_000016.10:89748713:T:C p.(Glu1098Gly) NC_000016.10:89748713:T:C p.(Glu1098Gly) NC_000016.10:89748713:T:C Identity +NM_001363729.2:c.1615G>A NP_001350658.1:p.Ala539Thr NC_000020.11:36897847:C:T p.(Ala539Thr) NC_000020.11:36897847:C:T p.(Ala539Thr) NC_000020.11:36897847:C:T Identity +NM_030662.4:c.178C>T NP_109587.1:p.Gln60Ter NC_000019.10:4117543:G:A p.(Gln60Ter) NC_000019.10:4117543:G:A p.(Gln60Ter) NC_000019.10:4117543:G:A Identity +NM_001145715.3:c.421A>G NP_001139187.1:p.Ile141Val NC_000007.14:99195201:T:C p.(Ile141Val) NC_000007.14:99195201:T:C p.(Ile141Val) NC_000007.14:99195201:T:C Identity +NM_001284351.3:c.2276T>C NP_001271280.1:p.Leu759Pro NC_000005.10:475080:A:G p.(Leu759Pro) NC_000005.10:475080:A:G p.(Leu759Pro) NC_000005.10:475080:A:G Identity +NM_001313915.2:c.212G>A NP_001300844.1:p.Arg71His NC_000002.12:88593373:C:T p.(Arg71His) NC_000002.12:88593373:C:T p.(Arg71His) NC_000002.12:88593373:C:T Identity +NM_001164507.2:c.6179G>T NP_001157979.2:p.Ser2060Ile NC_000002.12:151657986:C:A p.(Ser2060Ile) NC_000002.12:151657986:C:A p.(Ser2060Ile) NC_000002.12:151657986:C:A Identity +NM_001001937.2:c.16G>T NP_001001937.1:p.Val6Phe NC_000018.10:46098215:C:A p.(Val6Phe) NC_000018.10:46098215:C:A p.(Val6Phe) NC_000018.10:46098215:C:A Identity +NM_000540.3:c.10312G>A NP_000531.2:p.Val3438Met NC_000019.10:38523079:G:A p.(Val3438Met) NC_000019.10:38523079:G:A p.(Val3438Met) NC_000019.10:38523079:G:A Identity +NM_001012720.2:c.703G>A NP_001012738.1:p.Val235Ile NC_000010.11:84257964:G:A p.(Val235Ile) NC_000010.11:84257964:G:A p.(Val235Ile) NC_000010.11:84257964:G:A Identity +NM_207361.6:c.8533C>T NP_997244.4:p.Arg2845Ter NC_000013.11:38876370:C:T p.(Arg2845Ter) NC_000013.11:38876370:C:T p.(Arg2845Ter) NC_000013.11:38876370:C:T Identity +NM_001008738.3:c.458C>A NP_001008738.3:p.Ser153Tyr NC_000005.10:131719057:G:T p.(Ser153Tyr) NC_000005.10:131719057:G:T p.(Ser153Tyr) NC_000005.10:131719057:G:T Identity +NM_000395.3:c.2173_2174delinsAA NP_000386.1:p.Ala725Asn NC_000022.11:36937980:GC:AA p.(Ala725Asn) NC_000022.11:36937980:GC:AA p.(Ala725Asn) NC_000022.11:36937980:GC:AA Identity +NM_001134771.2:c.2900A>C NP_001128243.1:p.Lys967Thr NC_000020.11:46056192:A:C p.(Lys967Thr) NC_000020.11:46056192:A:C p.(Lys967Thr) NC_000020.11:46056192:A:C Identity +NM_001297778.1:c.383A>G NP_001284707.1:p.Lys128Arg NC_000001.11:9981113:A:G p.(Lys128Arg) NC_000001.11:9981113:A:G p.(Lys128Arg) NC_000001.11:9981113:A:G Identity +NM_001142415.2:c.460C>T NP_001135887.1:p.Arg154Cys NC_000004.12:106331739:C:T p.(Arg154Cys) NC_000004.12:106331739:C:T p.(Arg154Cys) NC_000004.12:106331739:C:T Identity +NM_001029883.3:c.2071del NP_001025054.1:p.His691fs NC_000002.12:29072190:GGGG:GGG p.(His691IlefsTer54) NC_000002.12:29072190:GGGG:GGG p.(His691IlefsTer54) NC_000002.12:29072190:G: Analogous +NM_001165928.4:c.1639G>C NP_001159400.3:p.Gly547Arg NC_000003.12:49532149:G:C p.(Gly547Arg) NC_000003.12:49532149:G:C p.(Gly547Arg) NC_000003.12:49532149:G:C Identity +NM_000257.4:c.3492C>G NP_000248.2:p.Asn1164Lys NC_000014.9:23420078:G:C p.(Asn1164Lys) NC_000014.9:23420078:G:C p.(Asn1164Lys) NC_000014.9:23420078:G:C Identity +NM_001143905.2:c.22C>G NP_001137377.1:p.His8Asp NC_000012.12:123253695:C:G p.(His8Asp) NC_000012.12:123253695:C:G p.(His8Asp) NC_000012.12:123253695:C:G Identity +NM_001321193.3:c.977G>A NP_001308122.1:p.Ser326Asn NC_000003.12:177038382:C:T p.(Ser326Asn) NC_000003.12:177038382:C:T p.(Ser326Asn) NC_000003.12:177038382:C:T Identity +NM_001083961.2:c.1124C>T NP_001077430.1:p.Ser375Phe NC_000019.10:36073421:C:T p.(Ser375Phe) NC_000019.10:36073421:C:T p.(Ser375Phe) NC_000019.10:36073421:C:T Identity +NM_001253852.3:c.323G>T NP_001240781.1:p.Ser108Ile NC_000001.11:113902652:C:A p.(Ser108Ile) NC_000001.11:113902652:C:A p.(Ser108Ile) NC_000001.11:113902652:C:A Identity +NM_000483.5:c.238G>A NP_000474.2:p.Ala80Thr NC_000019.10:44949180:G:A p.(Ala80Thr) NC_000019.10:44949180:G:A p.(Ala80Thr) NC_000019.10:44949180:G:A Identity +NM_000038.6:c.8401C>G NP_000029.2:p.Arg2801Gly NC_000005.10:112843994:C:G p.(Arg2801Gly) NC_000005.10:112843994:C:G p.(Arg2801Gly) NC_000005.10:112843994:C:G Identity +NM_001318781.2:c.2978G>A NP_001305710.1:p.Arg993Lys NC_000003.12:64615447:C:T p.(Arg993Lys) NC_000003.12:64615447:C:T p.(Arg993Lys) NC_000003.12:64615447:C:T Identity +NM_001195573.1:c.1628A>G NP_001182502.1:p.Tyr543Cys NC_000014.9:95116576:T:C p.(Tyr543Cys) NC_000014.9:95116576:T:C p.(Tyr543Cys) NC_000014.9:95116576:T:C Identity +NM_000444.6:c.701A>G NP_000435.3:p.Asp234Gly NC_000023.11:22090465:A:G p.(Asp234Gly) NC_000023.11:22090465:A:G p.(Asp234Gly) NC_000023.11:22090465:A:G Identity +NM_001081.4:c.4844A>G NP_001072.2:p.Gln1615Arg NC_000010.11:16954399:T:C p.(Gln1615Arg) NC_000010.11:16954399:T:C p.(Gln1615Arg) NC_000010.11:16954399:T:C Identity +NM_001317163.2:c.3580T>A NP_001304092.1:p.Leu1194Met NC_000009.12:120980178:A:T p.(Leu1194Met) NC_000009.12:120980178:A:T p.(Leu1194Met) NC_000009.12:120980178:A:T Identity +NM_022915.5:c.217C>A NP_075066.1:p.Gln73Lys NC_000002.12:223959570:C:A p.(Gln73Lys) NC_000002.12:223959570:C:A p.(Gln73Lys) NC_000002.12:223959570:C:A Identity +NM_001282660.2:c.2029G>C NP_001269589.1:p.Asp677His NC_000022.11:40418408:C:G p.(Asp677His) NC_000022.11:40418408:C:G p.(Asp677His) NC_000022.11:40418408:C:G Identity +NM_002900.3:c.740A>G NP_002891.1:p.Lys247Arg NC_000010.11:47349223:A:G p.(Lys247Arg) NC_000010.11:47349223:A:G p.(Lys247Arg) NC_000010.11:47349223:A:G Identity +NM_020778.5:c.3176G>A NP_065829.4:p.Arg1059Gln NC_000015.10:84857913:G:A p.(Arg1059Gln) NC_000015.10:84857913:G:A p.(Arg1059Gln) NC_000015.10:84857913:G:A Identity +NM_002334.4:c.1765C>T NP_002325.2:p.Arg589Cys NC_000011.10:46890426:G:A p.(Arg589Cys) NC_000011.10:46890426:G:A p.(Arg589Cys) NC_000011.10:46890426:G:A Identity +NM_005245.4:c.12868G>A NP_005236.2:p.Glu4290Lys NC_000004.12:186596671:C:T p.(Glu4290Lys) NC_000004.12:186596671:C:T p.(Glu4290Lys) NC_000004.12:186596671:C:T Identity +NM_021950.4:c.74C>A NP_068769.2:p.Ser25Tyr NC_000011.10:60462447:C:A p.(Ser25Tyr) NC_000011.10:60462447:C:A p.(Ser25Tyr) NC_000011.10:60462447:C:A Identity +NM_001142864.4:c.7145A>G NP_001136336.2:p.Tyr2382Cys NC_000016.10:88716103:T:C p.(Tyr2382Cys) NC_000016.10:88716103:T:C p.(Tyr2382Cys) NC_000016.10:88716103:T:C Identity +NM_001167614.2:c.173G>C NP_001161086.1:p.Gly58Ala NC_000012.12:65169768:G:C p.(Gly58Ala) NC_000012.12:65169768:G:C p.(Gly58Ala) NC_000012.12:65169768:G:C Identity +NM_001256560.2:c.164T>C NP_001243489.1:p.Ile55Thr NC_000003.12:58208283:A:G p.(Ile55Thr) NC_000003.12:58208283:A:G p.(Ile55Thr) NC_000003.12:58208283:A:G Identity +NM_001128148.3:c.2032G>A NP_001121620.1:p.Val678Ile NC_000003.12:196053425:C:T p.(Val678Ile) NC_000003.12:196053425:C:T p.(Val678Ile) NC_000003.12:196053425:C:T Identity +NM_000444.6:c.2021C>A NP_000435.3:p.Pro674Gln NC_000023.11:22227561:C:A p.(Pro674Gln) NC_000023.11:22227561:C:A p.(Pro674Gln) NC_000023.11:22227561:C:A Identity +NM_001145901.2:c.578T>C NP_001139373.1:p.Met193Thr NC_000019.10:38921408:A:G p.(Met193Thr) NC_000019.10:38921408:A:G p.(Met193Thr) NC_000019.10:38921408:A:G Identity +NM_002187.3:c.201G>T NP_002178.2:p.Glu67Asp NC_000005.10:159323216:C:A p.(Glu67Asp) NC_000005.10:159323216:C:A p.(Glu67Asp) NC_000005.10:159323216:C:A Identity +NM_000346.4:c.1096C>T NP_000337.1:p.Pro366Ser NC_000017.11:72123952:C:T p.(Pro366Ser) NC_000017.11:72123952:C:T p.(Pro366Ser) NC_000017.11:72123952:C:T Identity +NM_000458.4:c.332A>G NP_000449.1:p.Asp111Gly NC_000017.11:37744552:T:C p.(Asp111Gly) NC_000017.11:37744552:T:C p.(Asp111Gly) NC_000017.11:37744552:T:C Identity +NM_001287.6:c.169G>A NP_001278.1:p.Gly57Arg NC_000016.10:1465310:C:T p.(Gly57Arg) NC_000016.10:1465310:C:T p.(Gly57Arg) NC_000016.10:1465310:C:T Identity +NM_005045.4:c.8035G>C NP_005036.2:p.Val2679Leu NC_000007.14:103515268:C:G p.(Val2679Leu) NC_000007.14:103515268:C:G p.(Val2679Leu) NC_000007.14:103515268:C:G Identity +NM_001256007.3:c.395G>A NP_001242936.1:p.Ser132Asn NC_000007.14:108515096:C:T p.(Ser132Asn) NC_000007.14:108515096:C:T p.(Ser132Asn) NC_000007.14:108515096:C:T Identity +NM_016239.4:c.2753C>T NP_057323.3:p.Thr918Met NC_000017.11:18121552:C:T p.(Thr918Met) NC_000017.11:18121552:C:T p.(Thr918Met) NC_000017.11:18121552:C:T Identity +NM_001384880.1:c.974T>A NP_001371809.1:p.Met325Lys NC_000002.12:190991290:A:T p.(Met325Lys) NC_000002.12:190991290:A:T p.(Met325Lys) NC_000002.12:190991290:A:T Identity +NM_020987.5:c.10152G>C NP_066267.2:p.Gln3384His NC_000010.11:60070728:C:G p.(Gln3384His) NC_000010.11:60070728:C:G p.(Gln3384His) NC_000010.11:60070728:C:G Identity +NM_001178075.2:c.1259A>G NP_001171546.1:p.Asn420Ser NC_000007.14:97853213:T:C p.(Asn420Ser) NC_000007.14:97853213:T:C p.(Asn420Ser) NC_000007.14:97853213:T:C Identity +NM_001174116.3:c.1942G>A NP_001167587.1:p.Gly648Ser NC_000015.10:51536537:C:T p.(Gly648Ser) NC_000015.10:51536537:C:T p.(Gly648Ser) NC_000015.10:51536537:C:T Identity +NM_001244580.2:c.8624G>A NP_001231509.1:p.Ser2875Asn NC_000007.14:98981778:G:A p.(Ser2875Asn) NC_000007.14:98981778:G:A p.(Ser2875Asn) NC_000007.14:98981778:G:A Identity +NM_001008389.3:c.955C>T NP_001008390.1:p.Gln319Ter NC_000016.10:20348240:G:A p.(Gln319Ter) NC_000016.10:20348240:G:A p.(Gln319Ter) NC_000016.10:20348240:G:A Identity +NM_001351846.2:c.1287A>T NP_001338775.1:p.Glu429Asp NC_000016.10:1501424:A:T p.(Glu429Asp) NC_000016.10:1501424:A:T p.(Glu429Asp) NC_000016.10:1501424:A:T Identity +NM_001033503.3:c.248G>A NP_001028675.1:p.Arg83Gln NC_000005.10:134609670:C:T p.(Arg83Gln) NC_000005.10:134609670:C:T p.(Arg83Gln) NC_000005.10:134609670:C:T Identity +NM_022788.5:c.2T>C NP_073625.1:p.Met1Thr NC_000003.12:151338843:A:G p.(Met1Thr) NC_000003.12:151338843:A:G p.Met1? NC_000003.12:151338843:A:G Identity +NM_001129.5:c.2060C>A NP_001120.3:p.Ala687Glu NC_000007.14:44112163:C:A p.(Ala687Glu) NC_000007.14:44112163:C:A p.(Ala687Glu) NC_000007.14:44112163:C:A Identity +NM_001006600.3:c.53G>A NP_001006600.1:p.Arg18Gln NC_000005.10:65992770:G:A p.(Arg18Gln) NC_000005.10:65992770:G:A p.(Arg18Gln) NC_000005.10:65992770:G:A Identity +NM_015909.4:c.884C>T NP_056993.2:p.Ala295Val NC_000002.12:15511212:G:A p.(Ala295Val) NC_000002.12:15511212:G:A p.(Ala295Val) NC_000002.12:15511212:G:A Identity +NM_025179.4:c.2511C>G NP_079455.3:p.His837Gln NC_000001.11:208079334:G:C p.(His837Gln) NC_000001.11:208079334:G:C p.(His837Gln) NC_000001.11:208079334:G:C Identity +NM_000028.3:c.3964G>C NP_000019.2:p.Val1322Leu NC_000001.11:99913540:G:C p.(Val1322Leu) NC_000001.11:99913540:G:C p.(Val1322Leu) NC_000001.11:99913540:G:C Identity +NM_000525.4:c.481G>A NP_000516.3:p.Ala161Thr NC_000011.10:17387610:C:T p.(Ala161Thr) NC_000011.10:17387610:C:T p.(Ala161Thr) NC_000011.10:17387610:C:T Identity +NM_001144996.2:c.2128G>A NP_001138468.1:p.Asp710Asn NC_000012.12:55694857:C:T p.(Asp710Asn) NC_000012.12:55694857:C:T p.(Asp710Asn) NC_000012.12:55694857:C:T Identity +NM_145059.3:c.2566C>T NP_659496.2:p.Arg856Ter NC_000016.10:70475691:C:T p.(Arg856Ter) NC_000016.10:70475691:C:T p.(Arg856Ter) NC_000016.10:70475691:C:T Identity +NM_005861.4:c.31G>A NP_005852.2:p.Ala11Thr NC_000016.10:680555:G:A p.(Ala11Thr) NC_000016.10:680555:G:A p.(Ala11Thr) NC_000016.10:680555:G:A Identity +NM_032040.5:c.1454G>C NP_114429.2:p.Arg485Pro NC_000019.10:46411356:C:G p.(Arg485Pro) NC_000019.10:46411356:C:G p.(Arg485Pro) NC_000019.10:46411356:C:G Identity +NM_001184901.1:c.70G>A NP_001171830.1:p.Glu24Lys NC_000019.10:48234532:C:T p.(Glu24Lys) NC_000019.10:48234532:C:T p.(Glu24Lys) NC_000019.10:48234532:C:T Identity +NM_001178130.3:c.772C>T NP_001171601.1:p.Arg258Cys NC_000004.12:109945106:C:T p.(Arg258Cys) NC_000004.12:109945106:C:T p.(Arg258Cys) NC_000004.12:109945106:C:T Identity +NM_001077365.2:c.720del NP_001070833.1:p.Leu240fs NC_000009.12:131510279:G: p.(Leu240PhefsTer24) NC_000009.12:131510279:G: p.(Leu240PhefsTer24) NC_000009.12:131510279:G: Analogous +NM_001942.4:c.398T>A NP_001933.2:p.Met133Lys NC_000018.10:31329916:T:A p.(Met133Lys) NC_000018.10:31329916:T:A p.(Met133Lys) NC_000018.10:31329916:T:A Identity +NM_012188.5:c.1072C>T NP_036320.2:p.Pro358Ser NC_000005.10:170108545:C:T p.(Pro358Ser) NC_000005.10:170108545:C:T p.(Pro358Ser) NC_000005.10:170108545:C:T Identity +NM_001368263.1:c.2506C>G NP_001355192.1:p.Pro836Ala NC_000003.12:45541929:C:G p.(Pro836Ala) NC_000003.12:45541929:C:G p.(Pro836Ala) NC_000003.12:45541929:C:G Identity +NM_003673.4:c.277A>G NP_003664.1:p.Ile93Val NC_000017.11:39665881:A:G p.(Ile93Val) NC_000017.11:39665881:A:G p.(Ile93Val) NC_000017.11:39665881:A:G Identity +NM_001190799.2:c.1432T>G NP_001177728.1:p.Leu478Val NC_000004.12:127889933:T:G p.(Leu478Val) NC_000004.12:127889933:T:G p.(Leu478Val) NC_000004.12:127889933:T:G Identity +NM_000094.4:c.3289T>A NP_000085.1:p.Ser1097Thr NC_000003.12:48586676:A:T p.(Ser1097Thr) NC_000003.12:48586676:A:T p.(Ser1097Thr) NC_000003.12:48586676:A:T Identity +NM_001035.3:c.12718A>G NP_001026.2:p.Thr4240Ala NC_000001.11:237784429:A:G p.(Thr4240Ala) NC_000001.11:237784429:A:G p.(Thr4240Ala) NC_000001.11:237784429:A:G Identity +NM_001042517.2:c.1969C>T NP_001035982.1:p.His657Tyr NC_000013.11:59970048:G:A p.(His657Tyr) NC_000013.11:59970048:G:A p.(His657Tyr) NC_000013.11:59970048:G:A Identity +NM_000551.4:c.584A>C NP_000542.1:p.Gln195Pro NC_000003.12:10149906:A:C p.(Gln195Pro) NC_000003.12:10149906:A:C p.(Gln195Pro) NC_000003.12:10149906:A:C Identity +NM_001190879.3:c.443G>A NP_001177808.1:p.Arg148Gln NC_000002.12:147952517:C:T p.(Arg148Gln) NC_000002.12:147952517:C:T p.(Arg148Gln) NC_000002.12:147952517:C:T Identity +NM_001375808.2:c.2569G>A NP_001362737.1:p.Val857Met NC_000018.10:2920414:C:T p.(Val857Met) NC_000018.10:2920414:C:T p.(Val857Met) NC_000018.10:2920414:C:T Identity +NM_002335.4:c.512G>C NP_002326.2:p.Gly171Ala NC_000011.10:68357672:G:C p.(Gly171Ala) NC_000011.10:68357672:G:C p.(Gly171Ala) NC_000011.10:68357672:G:C Identity +NM_052945.4:c.511A>T NP_443177.1:p.Thr171Ser NC_000022.11:41925410:T:A p.(Thr171Ser) NC_000022.11:41925410:T:A p.(Thr171Ser) NC_000022.11:41925410:T:A Identity +NM_000159.4:c.232A>G NP_000150.1:p.Arg78Gly NC_000019.10:12891934:A:G p.(Arg78Gly) NC_000019.10:12891934:A:G p.(Arg78Gly) NC_000019.10:12891934:A:G Identity +NM_001184985.2:c.7472C>T NP_001171914.1:p.Ala2491Val NC_000012.12:907894:C:T p.(Ala2491Val) NC_000012.12:907894:C:T p.(Ala2491Val) NC_000012.12:907894:C:T Identity +NM_032242.4:c.2779G>A NP_115618.3:p.Ala927Thr NC_000003.12:127014732:G:A p.(Ala927Thr) NC_000003.12:127014732:G:A p.(Ala927Thr) NC_000003.12:127014732:G:A Identity +NM_000717.5:c.505C>G NP_000708.1:p.Leu169Val NC_000017.11:60157779:C:G p.(Leu169Val) NC_000017.11:60157779:C:G p.(Leu169Val) NC_000017.11:60157779:C:G Identity +NM_145059.3:c.797T>G NP_659496.2:p.Phe266Cys NC_000016.10:70469164:T:G p.(Phe266Cys) NC_000016.10:70469164:T:G p.(Phe266Cys) NC_000016.10:70469164:T:G Identity +NM_001164674.2:c.826T>C NP_001158146.1:p.Trp276Arg NC_000003.12:4410917:A:G p.(Trp276Arg) NC_000003.12:4410917:A:G p.(Trp276Arg) NC_000003.12:4410917:A:G Identity +NM_001174116.3:c.598A>G NP_001167587.1:p.Met200Val NC_000015.10:51547377:T:C p.(Met200Val) NC_000015.10:51547377:T:C p.(Met200Val) NC_000015.10:51547377:T:C Identity +NM_206933.4:c.10853G>A NP_996816.3:p.Gly3618Asp NC_000001.11:215779928:C:T p.(Gly3618Asp) NC_000001.11:215779928:C:T p.(Gly3618Asp) NC_000001.11:215779928:C:T Identity +NM_001304763.2:c.1393G>A NP_001291692.1:p.Val465Met NC_000001.11:151287683:G:A p.(Val465Met) NC_000001.11:151287683:G:A p.(Val465Met) NC_000001.11:151287683:G:A Identity +NM_206933.4:c.5227A>C NP_996816.3:p.Lys1743Gln NC_000001.11:216083526:T:G p.(Lys1743Gln) NC_000001.11:216083526:T:G p.(Lys1743Gln) NC_000001.11:216083526:T:G Identity +NM_000541.5:c.946A>G NP_000532.2:p.Ile316Val NC_000002.12:233338676:A:G p.(Ile316Val) NC_000002.12:233338676:A:G p.(Ile316Val) NC_000002.12:233338676:A:G Identity +NM_001164317.2:c.7235C>T NP_001157789.1:p.Ala2412Val NC_000003.12:58163273:C:T p.(Ala2412Val) NC_000003.12:58163273:C:T p.(Ala2412Val) NC_000003.12:58163273:C:T Identity +NM_001198868.2:c.976C>T NP_001185797.1:p.Arg326Trp NC_000011.10:65188459:C:T p.(Arg326Trp) NC_000011.10:65188459:C:T p.(Arg326Trp) NC_000011.10:65188459:C:T Identity +NM_001853.4:c.1426C>T NP_001844.3:p.Pro476Ser NC_000020.11:62836210:C:T p.(Pro476Ser) NC_000020.11:62836210:C:T p.(Pro476Ser) NC_000020.11:62836210:C:T Identity +NM_003737.4:c.4586_4587delinsTT NP_003728.1:p.Arg1529Leu NC_000011.10:6630206:GC:AA p.(Arg1529Leu) NC_000011.10:6630206:GC:AA p.(Arg1529Leu) NC_000011.10:6630206:GC:AA Identity +NM_001042472.3:c.301A>G NP_001035937.1:p.Ile101Val NC_000020.11:25339241:T:C p.(Ile101Val) NC_000020.11:25339241:T:C p.(Ile101Val) NC_000020.11:25339241:T:C Identity +NM_006063.3:c.1114G>C NP_006054.2:p.Asp372His NC_000002.12:169514576:G:C p.(Asp372His) NC_000002.12:169514576:G:C p.(Asp372His) NC_000002.12:169514576:G:C Identity +NM_001572.5:c.868G>C NP_001563.2:p.Asp290His NC_000011.10:613574:C:G p.(Asp290His) NC_000011.10:613574:C:G p.(Asp290His) NC_000011.10:613574:C:G Identity +NM_001367759.1:c.3101A>C NP_001354688.1:p.Tyr1034Ser NC_000006.12:121126382:T:G p.(Tyr1034Ser) NC_000006.12:121126382:T:G p.(Tyr1034Ser) NC_000006.12:121126382:T:G Identity +NM_001281302.2:c.1733G>A NP_001268231.1:p.Arg578Gln NC_000005.10:74730348:C:T p.(Arg578Gln) NC_000005.10:74730348:C:T p.(Arg578Gln) NC_000005.10:74730348:C:T Identity +NM_020461.4:c.5143G>A NP_065194.3:p.Glu1715Lys NC_000022.11:50218213:C:T p.(Glu1715Lys) NC_000022.11:50218213:C:T p.(Glu1715Lys) NC_000022.11:50218213:C:T Identity +NM_001010867.4:c.781A>C NP_001010867.1:p.Ile261Leu NC_000001.11:228175222:A:C p.(Ile261Leu) NC_000001.11:228175222:A:C p.(Ile261Leu) NC_000001.11:228175222:A:C Identity +NM_001367624.2:c.5698C>A NP_001354553.1:p.Pro1900Thr NC_000016.10:88433167:C:A p.(Pro1900Thr) NC_000016.10:88433167:C:A p.(Pro1900Thr) NC_000016.10:88433167:C:A Identity +NM_001379468.1:c.179G>A NP_001366397.1:p.Arg60Gln NC_000003.12:196707758:C:T p.(Arg60Gln) NC_000003.12:196707758:C:T p.(Arg60Gln) NC_000003.12:196707758:C:T Identity +NM_001351157.2:c.1444C>T NP_001338086.1:p.Arg482Trp NC_000016.10:70692860:G:A p.(Arg482Trp) NC_000016.10:70692860:G:A p.(Arg482Trp) NC_000016.10:70692860:G:A Identity +NM_182493.3:c.283G>A NP_872299.2:p.Glu95Lys NC_000016.10:46747910:C:T p.(Glu95Lys) NC_000016.10:46747910:C:T p.(Glu95Lys) NC_000016.10:46747910:C:T Identity +NM_014510.3:c.2464C>T NP_055325.2:p.Pro822Ser NC_000007.14:83135085:G:A p.(Pro822Ser) NC_000007.14:83135085:G:A p.(Pro822Ser) NC_000007.14:83135085:G:A Identity +NM_001261406.2:c.830C>T NP_001248335.1:p.Thr277Ile NC_000009.12:13221417:G:A p.(Thr277Ile) NC_000009.12:13221417:G:A p.(Thr277Ile) NC_000009.12:13221417:G:A Identity +NM_001350888.2:c.1016A>G NP_001337817.1:p.Asn339Ser NC_000014.9:96451487:A:G p.(Asn339Ser) NC_000014.9:96451487:A:G p.(Asn339Ser) NC_000014.9:96451487:A:G Identity +NM_003954.5:c.334G>A NP_003945.2:p.Glu112Lys NC_000017.11:45287356:C:T p.(Glu112Lys) NC_000017.11:45287356:C:T p.(Glu112Lys) NC_000017.11:45287356:C:T Identity +NM_000124.4:c.1450G>A NP_000115.1:p.Asp484Asn NC_000010.11:49505959:C:T p.(Asp484Asn) NC_000010.11:49505959:C:T p.(Asp484Asn) NC_000010.11:49505959:C:T Identity +NM_001122633.3:c.2477del NP_001116105.2:p.Arg826fs NC_000002.12:210612201:G: p.(Arg826LeufsTer4) NC_000002.12:210612201:G: p.(Arg826LeufsTer4) NC_000002.12:210612201:G: Analogous +NM_006766.5:c.2555C>G NP_006757.2:p.Pro852Arg NC_000008.11:41941325:G:C p.(Pro852Arg) NC_000008.11:41941325:G:C p.(Pro852Arg) NC_000008.11:41941325:G:C Identity +NM_001244580.2:c.10048G>A NP_001231509.1:p.Val3350Met NC_000007.14:98994628:G:A p.(Val3350Met) NC_000007.14:98994628:G:A p.(Val3350Met) NC_000007.14:98994628:G:A Identity +LRG_571t1:c.229G>A LRG_571p1:p.Ala77Thr NC_000006.12:160707742:G:A ERR:Data provider error: ValueError: Transcript LRG_571t1 not found ERR:Data provider error: ValueError: Transcript LRG_571t1 not found ERR:AlignmentMapper(tx_ac=LRG_571t1, alt_ac=LRG_571t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_571t1, alt_ac=LRG_571t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_571t1 not found +NM_001172435.2:c.2017C>T NP_001165906.1:p.Arg673Cys NC_000002.12:135150461:C:T p.(Arg673Cys) NC_000002.12:135150461:C:T p.(Arg673Cys) NC_000002.12:135150461:C:T Identity +NM_001142763.2:c.684A>C NP_001136235.1:p.Glu228Asp NC_000010.11:54329631:T:G p.(Glu228Asp) NC_000010.11:54329631:T:G p.(Glu228Asp) NC_000010.11:54329631:T:G Identity +NM_001256267.2:c.589T>C NP_001243196.1:p.Ser197Pro NC_000010.11:68122026:T:C p.(Ser197Pro) NC_000010.11:68122026:T:C p.(Ser197Pro) NC_000010.11:68122026:T:C Identity +NM_000246.4:c.1381G>C NP_000237.2:p.Asp461His NC_000016.10:10906872:G:C p.(Asp461His) NC_000016.10:10906872:G:C p.(Asp461His) NC_000016.10:10906872:G:C Identity +NM_001289396.2:c.832C>A NP_001276325.1:p.Leu278Met NC_000009.12:2047269:C:A p.(Leu278Met) NC_000009.12:2047269:C:A p.(Leu278Met) NC_000009.12:2047269:C:A Identity +NM_001204403.2:c.724A>G NP_001191332.1:p.Ile242Val NC_000010.11:60261914:T:C p.(Ile242Val) NC_000010.11:60261914:T:C p.(Ile242Val) NC_000010.11:60261914:T:C Identity +NM_001258392.3:c.1291C>T NP_001245321.1:p.Pro431Ser NC_000011.10:72301840:G:A p.(Pro431Ser) NC_000011.10:72301840:G:A p.(Pro431Ser) NC_000011.10:72301840:G:A Identity +NM_000383.4:c.1094_1095delinsTC NP_000374.1:p.Pro365Leu NC_000021.9:44292399:CG:TC p.(Pro365Leu) NC_000021.9:44292399:CG:TC p.(Pro365Leu) NC_000021.9:44292399:CG:TC Identity +NM_001318245.2:c.4565G>A NP_001305174.1:p.Arg1522His NC_000022.11:25895173:G:A p.(Arg1522His) NC_000022.11:25895173:G:A p.(Arg1522His) NC_000022.11:25895173:G:A Identity +NM_174908.4:c.529G>C NP_777568.1:p.Glu177Gln NC_000003.12:191380238:G:C p.(Glu177Gln) NC_000003.12:191380238:G:C p.(Glu177Gln) NC_000003.12:191380238:G:C Identity +NM_001365536.1:c.4883A>G NP_001352465.1:p.Lys1628Arg NC_000002.12:166199755:T:C p.(Lys1628Arg) NC_000002.12:166199755:T:C p.(Lys1628Arg) NC_000002.12:166199755:T:C Identity +NM_001411072.1:c.535C>A NP_001398001.1:p.Gln179Lys NC_000017.11:16317814:C:A p.(Gln179Lys) NC_000017.11:16317814:C:A p.(Gln179Lys) NC_000017.11:16317814:C:A Identity +NM_001371401.1:c.634G>A NP_001358330.1:p.Ala212Thr NC_000009.12:135503875:G:A p.(Ala212Thr) NC_000009.12:135503875:G:A p.(Ala212Thr) NC_000009.12:135503875:G:A Identity +NM_052854.4:c.943G>A NP_443086.1:p.Val315Met NC_000011.10:46312650:G:A p.(Val315Met) NC_000011.10:46312650:G:A p.(Val315Met) NC_000011.10:46312650:G:A Identity +NM_001288705.3:c.1326T>A NP_001275634.1:p.Asp442Glu NC_000005.10:150070056:A:T p.(Asp442Glu) NC_000005.10:150070056:A:T p.(Asp442Glu) NC_000005.10:150070056:A:T Identity +NM_001291860.2:c.10406C>T NP_001278789.1:p.Ala3469Val NC_000001.11:21835589:G:A p.(Ala3469Val) NC_000001.11:21835589:G:A p.(Ala3469Val) NC_000001.11:21835589:G:A Identity +NM_001297764.2:c.556G>A NP_001284693.1:p.Asp186Asn NC_000011.10:17526775:C:T p.(Asp186Asn) NC_000011.10:17526775:C:T p.(Asp186Asn) NC_000011.10:17526775:C:T Identity +NM_001271933.2:c.1999G>C NP_001258862.1:p.Glu667Gln NC_000011.10:117390831:G:C p.(Glu667Gln) NC_000011.10:117390831:G:C p.(Glu667Gln) NC_000011.10:117390831:G:C Identity +NM_001142333.2:c.427A>G NP_001135805.1:p.Ile143Val NC_000016.10:7587258:A:G p.(Ile143Val) NC_000016.10:7587258:A:G p.(Ile143Val) NC_000016.10:7587258:A:G Identity +NM_001306129.2:c.5579A>G NP_001293058.2:p.Asn1860Ser NC_000002.12:215379172:T:C p.(Asn1860Ser) NC_000002.12:215379172:T:C p.(Asn1860Ser) NC_000002.12:215379172:T:C Identity +NM_001291285.3:c.13094G>T NP_001278214.1:p.Gly4365Val NC_000004.12:125489912:G:T p.(Gly4365Val) NC_000004.12:125489912:G:T p.(Gly4365Val) NC_000004.12:125489912:G:T Identity +NM_000183.3:c.716T>C NP_000174.1:p.Leu239Pro NC_000002.12:26279219:T:C p.(Leu239Pro) NC_000002.12:26279219:T:C p.(Leu239Pro) NC_000002.12:26279219:T:C Identity +NM_001289164.3:c.1208C>A NP_001276093.1:p.Pro403His NC_000002.12:74534710:G:T p.(Pro403His) NC_000002.12:74534710:G:T p.(Pro403His) NC_000002.12:74534710:G:T Identity +NM_001030311.3:c.1577A>C NP_001025482.1:p.Asp526Ala NC_000002.12:181539130:T:G p.(Asp526Ala) NC_000002.12:181539130:T:G p.(Asp526Ala) NC_000002.12:181539130:T:G Identity +NM_001330360.2:c.3766C>T NP_001317289.1:p.His1256Tyr NC_000023.11:24841680:C:T p.(His1256Tyr) NC_000023.11:24841680:C:T p.(His1256Tyr) NC_000023.11:24841680:C:T Identity +NM_001261826.3:c.3227C>T NP_001248755.1:p.Ala1076Val NC_000019.10:2110172:G:A p.(Ala1076Val) NC_000019.10:2110172:G:A p.(Ala1076Val) NC_000019.10:2110172:G:A Identity +NM_001378218.1:c.1901G>A NP_001365147.1:p.Arg634Gln NC_000011.10:119078299:G:A p.(Arg634Gln) NC_000011.10:119078299:G:A p.(Arg634Gln) NC_000011.10:119078299:G:A Identity +NM_001367830.1:c.2989G>A NP_001354759.1:p.Gly997Arg NC_000019.10:11227407:C:T p.(Gly997Arg) NC_000019.10:11227407:C:T p.(Gly997Arg) NC_000019.10:11227407:C:T Identity +NM_017890.5:c.2776G>A NP_060360.3:p.Ala926Thr NC_000008.11:99275205:G:A p.(Ala926Thr) NC_000008.11:99275205:G:A p.(Ala926Thr) NC_000008.11:99275205:G:A Identity +NM_000423.3:c.800A>C NP_000414.2:p.Lys267Thr NC_000012.12:52650338:T:G p.(Lys267Thr) NC_000012.12:52650338:T:G p.(Lys267Thr) NC_000012.12:52650338:T:G Identity +NM_025114.4:c.7107T>A NP_079390.3:p.Ser2369Arg NC_000012.12:88053673:A:T p.(Ser2369Arg) NC_000012.12:88053673:A:T p.(Ser2369Arg) NC_000012.12:88053673:A:T Identity +NM_001303496.3:c.1910C>T NP_001290425.1:p.Ala637Val NC_000007.14:93134061:G:A p.(Ala637Val) NC_000007.14:93134061:G:A p.(Ala637Val) NC_000007.14:93134061:G:A Identity +NM_206933.4:c.10411A>T NP_996816.3:p.Thr3471Ser NC_000001.11:215782911:T:A p.(Thr3471Ser) NC_000001.11:215782911:T:A p.(Thr3471Ser) NC_000001.11:215782911:T:A Identity +NM_000326.5:c.42_44del NP_000317.1:p.Glu15del NC_000015.10:89218661:TCCTC:TC p.(Glu15del) NC_000015.10:89218661:TCCTC:TC p.(Glu15del) NC_000015.10:89218661:TCC: Identity +NM_004946.3:c.304T>C NP_004937.1:p.Trp102Arg NC_000005.10:169671156:T:C p.(Trp102Arg) NC_000005.10:169671156:T:C p.(Trp102Arg) NC_000005.10:169671156:T:C Identity +NM_001321431.2:c.6478C>A NP_001308360.1:p.Leu2160Ile NC_000019.10:8088077:G:T p.(Leu2160Ile) NC_000019.10:8088077:G:T p.(Leu2160Ile) NC_000019.10:8088077:G:T Identity +NM_024577.4:c.3643C>T NP_078853.2:p.Arg1215Cys NC_000005.10:149006912:G:A p.(Arg1215Cys) NC_000005.10:149006912:G:A p.(Arg1215Cys) NC_000005.10:149006912:G:A Identity +NM_025114.4:c.4995T>G NP_079390.3:p.Phe1665Leu NC_000012.12:88083047:A:C p.(Phe1665Leu) NC_000012.12:88083047:A:C p.(Phe1665Leu) NC_000012.12:88083047:A:C Identity +NM_001163771.2:c.356C>T NP_001157243.1:p.Pro119Leu NC_000006.12:33189064:G:A p.(Pro119Leu) NC_000006.12:33189064:G:A p.(Pro119Leu) NC_000006.12:33189064:G:A Identity +NM_000260.4:c.1190C>T NP_000251.3:p.Ala397Val NC_000011.10:77160271:C:T p.(Ala397Val) NC_000011.10:77160271:C:T p.(Ala397Val) NC_000011.10:77160271:C:T Identity +NM_001367473.1:c.1291C>G NP_001354402.1:p.Pro431Ala NC_000001.11:6445761:C:G p.(Pro431Ala) NC_000001.11:6445761:C:G p.(Pro431Ala) NC_000001.11:6445761:C:G Identity +NM_001035511.3:c.211C>T NP_001030588.1:p.His71Tyr NC_000001.11:161340624:C:T p.(His71Tyr) NC_000001.11:161340624:C:T p.(His71Tyr) NC_000001.11:161340624:C:T Identity +NM_032444.4:c.1912G>T NP_115820.2:p.Glu638Ter NC_000016.10:3596164:C:A p.(Glu638Ter) NC_000016.10:3596164:C:A p.(Glu638Ter) NC_000016.10:3596164:C:A Identity +NM_000539.3:c.277A>C NP_000530.1:p.Ser93Arg NC_000003.12:129529009:A:C p.(Ser93Arg) NC_000003.12:129529009:A:C p.(Ser93Arg) NC_000003.12:129529009:A:C Identity +NM_000350.3:c.1700T>C NP_000341.2:p.Val567Ala NC_000001.11:94063171:A:G p.(Val567Ala) NC_000001.11:94063171:A:G p.(Val567Ala) NC_000001.11:94063171:A:G Identity +NM_001330360.2:c.3727A>G NP_001317289.1:p.Thr1243Ala NC_000023.11:24826591:A:G p.(Thr1243Ala) NC_000023.11:24826591:A:G p.(Thr1243Ala) NC_000023.11:24826591:A:G Identity +NM_001098511.3:c.2024G>A NP_001091981.1:p.Arg675Gln NC_000005.10:62381127:G:A p.(Arg675Gln) NC_000005.10:62381127:G:A p.(Arg675Gln) NC_000005.10:62381127:G:A Identity +NM_005257.6:c.847G>A NP_005248.2:p.Ala283Thr NC_000018.10:22171990:G:A p.(Ala283Thr) NC_000018.10:22171990:G:A p.(Ala283Thr) NC_000018.10:22171990:G:A Identity +NM_001131022.1:c.183G>T NP_001124494.1:p.Met61Ile NC_000005.10:83111070:G:T ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found +NM_001330723.2:c.1574_1575del NP_001317652.1:p.Lys525fs NC_000001.11:151693476:AAAA:AA p.(Lys525ArgfsTer42) NC_000001.11:151693476:AAAA:AA p.(Lys525ArgfsTer42) NC_000001.11:151693478:AA: Analogous +NM_020693.4:c.4433A>G NP_065744.3:p.Glu1478Gly NC_000011.10:117437408:T:C p.(Glu1478Gly) NC_000011.10:117437408:T:C p.(Glu1478Gly) NC_000011.10:117437408:T:C Identity +NM_000245.4:c.3578A>G NP_000236.2:p.Lys1193Arg NC_000007.14:116782042:A:G p.(Lys1193Arg) NC_000007.14:116782042:A:G p.(Lys1193Arg) NC_000007.14:116782042:A:G Identity +NM_000384.3:c.8313A>T NP_000375.3:p.Leu2771Phe NC_000002.12:21008554:T:A p.(Leu2771Phe) NC_000002.12:21008554:T:A p.(Leu2771Phe) NC_000002.12:21008554:T:A Identity +NM_001083961.2:c.415A>G NP_001077430.1:p.Ile139Val NC_000019.10:36066280:A:G p.(Ile139Val) NC_000019.10:36066280:A:G p.(Ile139Val) NC_000019.10:36066280:A:G Identity +NM_005477.3:c.3512G>A NP_005468.1:p.Arg1171Lys NC_000015.10:73322580:C:T p.(Arg1171Lys) NC_000015.10:73322580:C:T p.(Arg1171Lys) NC_000015.10:73322580:C:T Identity +NM_004820.5:c.1390G>A NP_004811.1:p.Val464Ile NC_000008.11:64596772:C:T p.(Val464Ile) NC_000008.11:64596772:C:T p.(Val464Ile) NC_000008.11:64596772:C:T Identity +NM_001040151.2:c.541T>A NP_001035241.1:p.Tyr181Asn NC_000011.10:123638228:A:T p.(Tyr181Asn) NC_000011.10:123638228:A:T p.(Tyr181Asn) NC_000011.10:123638228:A:T Identity +NM_015072.5:c.2414C>A NP_055887.3:p.Thr805Asn NC_000014.9:75779600:C:A p.(Thr805Asn) NC_000014.9:75779600:C:A p.(Thr805Asn) NC_000014.9:75779600:C:A Identity +NM_015192.4:c.650A>G NP_056007.1:p.Asn217Ser NC_000020.11:8657238:A:G p.(Asn217Ser) NC_000020.11:8657238:A:G p.(Asn217Ser) NC_000020.11:8657238:A:G Identity +NM_001034194.2:c.471A>C NP_001029366.1:p.Leu157Phe NC_000004.12:121804707:A:C p.(Leu157Phe) NC_000004.12:121804707:A:C p.(Leu157Phe) NC_000004.12:121804707:A:C Identity +NM_001256063.2:c.269G>A NP_001242992.1:p.Arg90Gln NC_000012.12:40922296:G:A p.(Arg90Gln) NC_000012.12:40922296:G:A p.(Arg90Gln) NC_000012.12:40922296:G:A Identity +NM_032119.4:c.614T>G NP_115495.3:p.Ile205Ser NC_000005.10:90625184:T:G p.(Ile205Ser) NC_000005.10:90625184:T:G p.(Ile205Ser) NC_000005.10:90625184:T:G Identity +NM_001261826.3:c.1354C>T NP_001248755.1:p.Arg452Cys NC_000019.10:2120988:G:A p.(Arg452Cys) NC_000019.10:2120988:G:A p.(Arg452Cys) NC_000019.10:2120988:G:A Identity +NM_001378477.3:c.222G>C NP_001365406.2:p.Glu74Asp NC_000023.11:41473689:G:C p.(Glu74Asp) NC_000023.11:41473689:G:C p.(Glu74Asp) NC_000023.11:41473689:G:C Identity +NM_002661.5:c.490C>T NP_002652.2:p.Arg164Ter NC_000016.10:81869223:C:T p.(Arg164Ter) NC_000016.10:81869223:C:T p.(Arg164Ter) NC_000016.10:81869223:C:T Identity +NM_001099952.4:c.1517G>A NP_001093422.2:p.Arg506Gln NC_000003.12:4663168:G:A p.(Arg506Gln) NC_000003.12:4663168:G:A p.(Arg506Gln) NC_000003.12:4663168:G:A Identity +NM_001206927.2:c.4198C>T NP_001193856.1:p.Gln1400Ter NC_000006.12:38832330:C:T p.(Gln1400Ter) NC_000006.12:38832330:C:T p.(Gln1400Ter) NC_000006.12:38832330:C:T Identity +NM_000264.5:c.866A>G NP_000255.2:p.His289Arg NC_000009.12:95480468:T:C p.(His289Arg) NC_000009.12:95480468:T:C p.(His289Arg) NC_000009.12:95480468:T:C Identity +NM_020312.4:c.187T>C NP_064708.1:p.Ser63Pro NC_000016.10:57451152:T:C p.(Ser63Pro) NC_000016.10:57451152:T:C p.(Ser63Pro) NC_000016.10:57451152:T:C Identity +NM_000378.6:c.163G>T NP_000369.4:p.Ala55Ser NC_000011.10:32435197:C:A p.(Ala55Ser) NC_000011.10:32435197:C:A p.(Ala55Ser) NC_000011.10:32435197:C:A Identity +NM_020461.4:c.1392G>T NP_065194.3:p.Lys464Asn NC_000022.11:50227926:C:A p.(Lys464Asn) NC_000022.11:50227926:C:A p.(Lys464Asn) NC_000022.11:50227926:C:A Identity +NM_001197104.2:c.4999C>T NP_001184033.1:p.Arg1667Trp NC_000011.10:118491922:C:T p.(Arg1667Trp) NC_000011.10:118491922:C:T p.(Arg1667Trp) NC_000011.10:118491922:C:T Identity +NM_001164673.2:c.662T>G NP_001158145.1:p.Leu221Arg NC_000004.12:3489696:T:G p.(Leu221Arg) NC_000004.12:3489696:T:G p.(Leu221Arg) NC_000004.12:3489696:T:G Identity +NM_001393363.1:c.896A>G NP_001380292.1:p.His299Arg NC_000003.12:33130040:A:G p.(His299Arg) NC_000003.12:33130040:A:G p.(His299Arg) NC_000003.12:33130040:A:G Identity +NM_001347721.2:c.421A>G NP_001334650.1:p.Lys141Glu NC_000021.9:37480757:A:G p.(Lys141Glu) NC_000021.9:37480757:A:G p.(Lys141Glu) NC_000021.9:37480757:A:G Identity +NM_033131.4:c.88C>T NP_149122.1:p.Pro30Ser NC_000001.11:228022682:C:T p.(Pro30Ser) NC_000001.11:228022682:C:T p.(Pro30Ser) NC_000001.11:228022682:C:T Identity +NM_170606.3:c.12736T>C NP_733751.2:p.Tyr4246His NC_000007.14:152150937:A:G p.(Tyr4246His) NC_000007.14:152150937:A:G p.(Tyr4246His) NC_000007.14:152150937:A:G Identity +NM_001035506.1:c.2299G>A NP_001030583.1:p.Gly767Arg NC_000002.12:27068687:G:A ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001166005.2:c.2030A>G NP_001159477.1:p.Glu677Gly NC_000001.11:29065003:A:G p.(Glu677Gly) NC_000001.11:29065003:A:G p.(Glu677Gly) NC_000001.11:29065003:A:G Identity +NM_001350888.2:c.568C>T NP_001337817.1:p.His190Tyr NC_000014.9:96420890:C:T p.(His190Tyr) NC_000014.9:96420890:C:T p.(His190Tyr) NC_000014.9:96420890:C:T Identity +NM_001330174.3:c.872G>T NP_001317103.1:p.Gly291Val NC_000010.11:123053109:G:T p.(Gly291Val) NC_000010.11:123053109:G:T p.(Gly291Val) NC_000010.11:123053109:G:T Identity +NM_003849.4:c.97C>G NP_003840.2:p.Leu33Val NC_000002.12:84459172:G:C p.(Leu33Val) NC_000002.12:84459172:G:C p.(Leu33Val) NC_000002.12:84459172:G:C Identity +NM_006766.5:c.2986A>T NP_006757.2:p.Ser996Cys NC_000008.11:41940894:T:A p.(Ser996Cys) NC_000008.11:41940894:T:A p.(Ser996Cys) NC_000008.11:41940894:T:A Identity +NM_001130438.3:c.6223G>A NP_001123910.1:p.Ala2075Thr NC_000009.12:128625921:G:A p.(Ala2075Thr) NC_000009.12:128625921:G:A p.(Ala2075Thr) NC_000009.12:128625921:G:A Identity +NM_001168249.1:c.4981C>G NP_001161721.1:p.Gln1661Glu NC_000001.11:102878110:G:C ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001035506.1:c.2059G>C NP_001030583.1:p.Val687Leu NC_000002.12:27059373:G:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_203290.4:c.1028T>A NP_976035.1:p.Val343Asp NC_000006.12:43521286:T:A p.(Val343Asp) NC_000006.12:43521286:T:A p.(Val343Asp) NC_000006.12:43521286:T:A Identity +NM_000718.4:c.2861G>T NP_000709.1:p.Arg954Leu NC_000009.12:138023603:G:T p.(Arg954Leu) NC_000009.12:138023603:G:T p.(Arg954Leu) NC_000009.12:138023603:G:T Identity +NM_001853.4:c.511G>A NP_001844.3:p.Asp171Asn NC_000020.11:62822623:G:A p.(Asp171Asn) NC_000020.11:62822623:G:A p.(Asp171Asn) NC_000020.11:62822623:G:A Identity +NM_000532.5:c.82C>T NP_000523.2:p.Leu28Phe NC_000003.12:136250456:C:T p.(Leu28Phe) NC_000003.12:136250456:C:T p.(Leu28Phe) NC_000003.12:136250456:C:T Identity +NM_020754.4:c.659C>T NP_065805.2:p.Ala220Val NC_000003.12:119383202:C:T p.(Ala220Val) NC_000003.12:119383202:C:T p.(Ala220Val) NC_000003.12:119383202:C:T Identity +NM_002635.4:c.832A>G NP_002626.1:p.Ile278Val NC_000012.12:98601187:A:G p.(Ile278Val) NC_000012.12:98601187:A:G p.(Ile278Val) NC_000012.12:98601187:A:G Identity +NM_001304482.2:c.1870C>G NP_001291411.1:p.Pro624Ala NC_000003.12:47410045:C:G p.(Pro624Ala) NC_000003.12:47410045:C:G p.(Pro624Ala) NC_000003.12:47410045:C:G Identity +NM_000539.3:c.554G>A NP_000530.1:p.Cys185Tyr NC_000003.12:129532273:G:A p.(Cys185Tyr) NC_000003.12:129532273:G:A p.(Cys185Tyr) NC_000003.12:129532273:G:A Identity +NM_001080463.2:c.3457C>T NP_001073932.1:p.Arg1153Trp NC_000011.10:103154604:C:T p.(Arg1153Trp) NC_000011.10:103154604:C:T p.(Arg1153Trp) NC_000011.10:103154604:C:T Identity +NM_001160036.2:c.1053T>G NP_001153508.1:p.His351Gln NC_000008.11:23007231:T:G p.(His351Gln) NC_000008.11:23007231:T:G p.(His351Gln) NC_000008.11:23007231:T:G Identity +NM_000038.6:c.8395T>G NP_000029.2:p.Ser2799Ala NC_000005.10:112843988:T:G p.(Ser2799Ala) NC_000005.10:112843988:T:G p.(Ser2799Ala) NC_000005.10:112843988:T:G Identity +NM_001371986.1:c.2971G>A NP_001358915.1:p.Gly991Ser NC_000002.12:209834939:G:A p.(Gly991Ser) NC_000002.12:209834939:G:A p.(Gly991Ser) NC_000002.12:209834939:G:A Identity +NM_001029883.3:c.3116T>G NP_001025054.1:p.Leu1039Arg NC_000002.12:29071145:A:C p.(Leu1039Arg) NC_000002.12:29071145:A:C p.(Leu1039Arg) NC_000002.12:29071145:A:C Identity +NM_001018113.3:c.64G>A NP_001018123.1:p.Val22Ile NC_000023.11:14865446:C:T p.(Val22Ile) NC_000023.11:14865446:C:T p.(Val22Ile) NC_000023.11:14865446:C:T Identity +NM_001347827.2:c.2182A>G NP_001334756.1:p.Asn728Asp NC_000004.12:54280340:A:G p.(Asn728Asp) NC_000004.12:54280340:A:G p.(Asn728Asp) NC_000004.12:54280340:A:G Identity +NM_001193640.2:c.3105_3106del NP_001180569.1:p.Cys1036fs NC_000001.11:197435303:CT: p.(Cys1036PhefsTer7) NC_000001.11:197435303:CT: p.(Cys1036PhefsTer7) NC_000001.11:197435303:CT: Analogous +NM_001098209.2:c.1188A>C NP_001091679.1:p.Glu396Asp NC_000003.12:41233530:A:C p.(Glu396Asp) NC_000003.12:41233530:A:C p.(Glu396Asp) NC_000003.12:41233530:A:C Identity +NM_000286.3:c.348dup NP_000277.1:p.Ile117fs NC_000017.11:35577369:A:AA p.(Ile117TyrfsTer20) NC_000017.11:35577369:A:AA p.(Ile117TyrfsTer20) ERR:SPDI Analogous +NM_001320210.2:c.856G>A NP_001307139.1:p.Gly286Ser NC_000003.12:132675679:G:A p.(Gly286Ser) NC_000003.12:132675679:G:A p.(Gly286Ser) NC_000003.12:132675679:G:A Identity +NM_001368263.1:c.2675C>T NP_001355192.1:p.Pro892Leu NC_000003.12:45547492:C:T p.(Pro892Leu) NC_000003.12:45547492:C:T p.(Pro892Leu) NC_000003.12:45547492:C:T Identity +NM_001291411.2:c.3214C>T NP_001278340.2:p.Arg1072Cys NC_000021.9:33552444:C:T p.(Arg1072Cys) NC_000021.9:33552444:C:T p.(Arg1072Cys) NC_000021.9:33552444:C:T Identity +NM_001166598.2:c.979G>C NP_001160070.1:p.Glu327Gln NC_000011.10:116790249:C:G p.(Glu327Gln) NC_000011.10:116790249:C:G p.(Glu327Gln) NC_000011.10:116790249:C:G Identity +NM_001164674.2:c.179C>A NP_001158146.1:p.Ala60Asp NC_000003.12:4467066:G:T p.(Ala60Asp) NC_000003.12:4467066:G:T p.(Ala60Asp) NC_000003.12:4467066:G:T Identity +NM_005461.5:c.289C>T NP_005452.2:p.Pro97Ser NC_000020.11:40688561:G:A p.(Pro97Ser) NC_000020.11:40688561:G:A p.(Pro97Ser) NC_000020.11:40688561:G:A Identity +NM_001256849.1:c.622C>T NP_001243778.1:p.Pro208Ser NC_000019.10:50402236:C:T p.(Pro208Ser) NC_000019.10:50402236:C:T p.(Pro208Ser) NC_000019.10:50402236:C:T Identity +NM_000789.4:c.232G>T NP_000780.1:p.Glu78Ter NC_000017.11:63477325:G:T p.(Glu78Ter) NC_000017.11:63477325:G:T p.(Glu78Ter) NC_000017.11:63477325:G:T Identity +NM_001258215.1:c.2102C>T NP_001245144.1:p.Thr701Met NC_000001.11:67395859:C:T p.(Thr701Met) NC_000001.11:67395859:C:T p.(Thr701Met) NC_000001.11:67395859:C:T Identity +NM_001127207.2:c.370C>T NP_001120679.1:p.Pro124Ser NC_000002.12:216415073:C:T p.(Pro124Ser) NC_000002.12:216415073:C:T p.(Pro124Ser) NC_000002.12:216415073:C:T Identity +NM_003823.4:c.422C>T NP_003814.1:p.Pro141Leu NC_000020.11:63697188:C:T p.(Pro141Leu) NC_000020.11:63697188:C:T p.(Pro141Leu) NC_000020.11:63697188:C:T Identity +NM_173689.7:c.271G>A NP_775960.4:p.Gly91Ser NC_000009.12:123363040:G:A p.(Gly91Ser) NC_000009.12:123363040:G:A p.(Gly91Ser) NC_000009.12:123363040:G:A Identity +NM_016350.5:c.421G>T NP_057434.4:p.Gly141Cys NC_000014.9:50792725:C:A p.(Gly141Cys) NC_000014.9:50792725:C:A p.(Gly141Cys) NC_000014.9:50792725:C:A Identity +NM_001178133.2:c.773G>C NP_001171604.1:p.Gly258Ala NC_000010.11:102597155:G:C p.(Gly258Ala) NC_000010.11:102597155:G:C p.(Gly258Ala) NC_000010.11:102597155:G:C Identity +NM_002299.4:c.472G>A NP_002290.2:p.Ala158Thr NC_000002.12:135836697:C:T p.(Ala158Thr) NC_000002.12:135836697:C:T p.(Ala158Thr) NC_000002.12:135836697:C:T Identity +NM_001961.4:c.1765G>A NP_001952.1:p.Val589Met NC_000019.10:3978120:C:T p.(Val589Met) NC_000019.10:3978120:C:T p.(Val589Met) NC_000019.10:3978120:C:T Identity +NM_000494.4:c.4000A>G NP_000485.3:p.Arg1334Gly NC_000010.11:104034100:T:C p.(Arg1334Gly) NC_000010.11:104034100:T:C p.(Arg1334Gly) NC_000010.11:104034100:T:C Identity +NM_001198842.2:c.1231A>G NP_001185771.1:p.Ser411Gly NC_000012.12:69598357:A:G p.(Ser411Gly) NC_000012.12:69598357:A:G p.(Ser411Gly) NC_000012.12:69598357:A:G Identity +NM_000321.3:c.1823C>G NP_000312.2:p.Ser608Cys NC_000013.11:48456211:C:G p.(Ser608Cys) NC_000013.11:48456211:C:G p.(Ser608Cys) NC_000013.11:48456211:C:G Identity +NM_001288705.3:c.974T>G NP_001275634.1:p.Val325Gly NC_000005.10:150073408:A:C p.(Val325Gly) NC_000005.10:150073408:A:C p.(Val325Gly) NC_000005.10:150073408:A:C Identity +NM_001845.6:c.3686A>G NP_001836.3:p.His1229Arg NC_000013.11:110170602:T:C p.(His1229Arg) NC_000013.11:110170602:T:C p.(His1229Arg) NC_000013.11:110170602:T:C Identity +NM_015202.5:c.4258G>A NP_056017.4:p.Gly1420Ser NC_000016.10:27773157:G:A p.(Gly1420Ser) NC_000016.10:27773157:G:A p.(Gly1420Ser) NC_000016.10:27773157:G:A Identity +NM_001256850.1:c.98203G>A NP_001243779.1:p.Glu32735Lys NC_000002.12:178533488:C:T p.(Glu32735Lys) NC_000002.12:178533488:C:T p.(Glu32735Lys) NC_000002.12:178533488:C:T Identity +NM_001080467.3:c.5071G>A NP_001073936.1:p.Ala1691Thr NC_000018.10:49837583:C:T p.(Ala1691Thr) NC_000018.10:49837583:C:T p.(Ala1691Thr) NC_000018.10:49837583:C:T Identity +NM_001160227.2:c.6892T>A NP_001153699.1:p.Tyr2298Asn NC_000015.10:44563221:A:T p.(Tyr2298Asn) NC_000015.10:44563221:A:T p.(Tyr2298Asn) NC_000015.10:44563221:A:T Identity +NM_001253866.2:c.1787A>T NP_001240795.1:p.Lys596Met NC_000010.11:27116093:T:A p.(Lys596Met) NC_000010.11:27116093:T:A p.(Lys596Met) NC_000010.11:27116093:T:A Identity +NM_139321.3:c.4217T>C NP_647537.1:p.Val1406Ala NC_000020.11:3646773:T:C p.(Val1406Ala) NC_000020.11:3646773:T:C p.(Val1406Ala) NC_000020.11:3646773:T:C Identity +NM_001281532.3:c.263T>C NP_001268461.1:p.Leu88Pro NC_000019.10:35746803:T:C p.(Leu88Pro) NC_000019.10:35746803:T:C p.(Leu88Pro) NC_000019.10:35746803:T:C Identity +NM_015909.4:c.1700A>G NP_056993.2:p.Asn567Ser NC_000002.12:15473246:T:C p.(Asn567Ser) NC_000002.12:15473246:T:C p.(Asn567Ser) NC_000002.12:15473246:T:C Identity +NM_001164507.2:c.7373_7374delinsAA NP_001157979.2:p.Ser2458Lys NC_000002.12:151650232:GC:TT p.(Ser2458Lys) NC_000002.12:151650232:GC:TT p.(Ser2458Lys) NC_000002.12:151650232:GC:TT Identity +NM_001159291.2:c.2852T>C NP_001152763.1:p.Leu951Pro NC_000006.12:109444284:A:G p.(Leu951Pro) NC_000006.12:109444284:A:G p.(Leu951Pro) NC_000006.12:109444284:A:G Identity +NM_000081.4:c.1857T>G NP_000072.2:p.Ile619Met NC_000001.11:235808960:A:C p.(Ile619Met) NC_000001.11:235808960:A:C p.(Ile619Met) NC_000001.11:235808960:A:C Identity +NM_138370.3:c.380G>A NP_612379.2:p.Gly127Asp NC_000002.12:42048578:G:A p.(Gly127Asp) NC_000002.12:42048578:G:A p.(Gly127Asp) NC_000002.12:42048578:G:A Identity +NM_001202504.1:c.2253C>T NP_001189433.1:p.Asp751= NC_000018.10:79736383:C:T p.(Asp751=) NC_000018.10:79736383:C:T p.(Asp751=) NC_000018.10:79736383:C:T Identity +NM_001291411.2:c.5515C>T NP_001278340.2:p.Arg1839Cys NC_000021.9:33554745:C:T p.(Arg1839Cys) NC_000021.9:33554745:C:T p.(Arg1839Cys) NC_000021.9:33554745:C:T Identity +NM_000660.7:c.433C>T NP_000651.3:p.Pro145Ser NC_000019.10:41348377:G:A p.(Pro145Ser) NC_000019.10:41348377:G:A p.(Pro145Ser) NC_000019.10:41348377:G:A Identity +NM_001164665.2:c.3316C>T NP_001158137.1:p.Arg1106Trp NC_000007.14:138907062:G:A p.(Arg1106Trp) NC_000007.14:138907062:G:A p.(Arg1106Trp) NC_000007.14:138907062:G:A Identity +NM_003126.4:c.1913A>C NP_003117.2:p.Glu638Ala NC_000001.11:158667982:T:G p.(Glu638Ala) NC_000001.11:158667982:T:G p.(Glu638Ala) NC_000001.11:158667982:T:G Identity +NM_001195263.2:c.625C>T NP_001182192.1:p.Arg209Cys NC_000010.11:101022302:G:A p.(Arg209Cys) NC_000010.11:101022302:G:A p.(Arg209Cys) NC_000010.11:101022302:G:A Identity +NM_006766.5:c.3395A>G NP_006757.2:p.Asp1132Gly NC_000008.11:41934824:T:C p.(Asp1132Gly) NC_000008.11:41934824:T:C p.(Asp1132Gly) NC_000008.11:41934824:T:C Identity +NM_001301031.1:c.416G>A NP_001287960.1:p.Arg139Lys NC_000015.10:65624495:G:A p.(Arg139Lys) NC_000015.10:65624495:G:A p.(Arg139Lys) NC_000015.10:65624495:G:A Identity +NM_001128929.3:c.566G>A NP_001122401.1:p.Arg189Gln NC_000003.12:77477542:G:A p.(Arg189Gln) NC_000003.12:77477542:G:A p.(Arg189Gln) NC_000003.12:77477542:G:A Identity +NM_000553.6:c.2154A>C NP_000544.2:p.Leu718Phe NC_000008.11:31111679:A:C p.(Leu718Phe) NC_000008.11:31111679:A:C p.(Leu718Phe) NC_000008.11:31111679:A:C Identity +NM_001190274.2:c.397C>T NP_001177203.1:p.Arg133Cys NC_000002.12:47839463:G:A p.(Arg133Cys) NC_000002.12:47839463:G:A p.(Arg133Cys) NC_000002.12:47839463:G:A Identity +NM_025009.5:c.2071del NP_079285.2:p.Arg691fs NC_000004.12:55999358:AAAAA:AAAA p.(Arg691GlufsTer18) NC_000004.12:55999358:AAAAA:AAAA p.(Arg691GlufsTer18) NC_000004.12:55999362:A: Analogous +NM_020376.4:c.43T>A NP_065109.1:p.Cys15Ser NC_000011.10:819760:T:A p.(Cys15Ser) NC_000011.10:819760:T:A p.(Cys15Ser) NC_000011.10:819760:T:A Identity +NM_006019.4:c.880G>T NP_006010.2:p.Val294Leu NC_000011.10:68044203:G:T p.(Val294Leu) NC_000011.10:68044203:G:T p.(Val294Leu) NC_000011.10:68044203:G:T Identity +NM_003922.4:c.4178G>A NP_003913.3:p.Arg1393His NC_000015.10:63713637:C:T p.(Arg1393His) NC_000015.10:63713637:C:T p.(Arg1393His) NC_000015.10:63713637:C:T Identity +NM_001378477.3:c.32T>A NP_001365406.2:p.Leu11His NC_000023.11:41473499:T:A p.(Leu11His) NC_000023.11:41473499:T:A p.(Leu11His) NC_000023.11:41473499:T:A Identity +NM_005373.3:c.593A>G NP_005364.1:p.Gln198Arg NC_000001.11:43339471:A:G p.(Gln198Arg) NC_000001.11:43339471:A:G p.(Gln198Arg) NC_000001.11:43339471:A:G Identity +NM_138477.4:c.2887A>G NP_612486.2:p.Asn963Asp NC_000015.10:42728014:T:C p.(Asn963Asp) NC_000015.10:42728014:T:C p.(Asn963Asp) NC_000015.10:42728014:T:C Identity +NM_015909.4:c.272A>G NP_056993.2:p.His91Arg NC_000002.12:15554075:T:C p.(His91Arg) NC_000002.12:15554075:T:C p.(His91Arg) NC_000002.12:15554075:T:C Identity +NM_000540.3:c.12409G>A NP_000531.2:p.Asp4137Asn NC_000019.10:38561238:G:A p.(Asp4137Asn) NC_000019.10:38561238:G:A p.(Asp4137Asn) NC_000019.10:38561238:G:A Identity +NM_020988.3:c.530G>A NP_066268.1:p.Arg177Gln NC_000016.10:56334793:G:A p.(Arg177Gln) NC_000016.10:56334793:G:A p.(Arg177Gln) NC_000016.10:56334793:G:A Identity +NM_001407325.1:c.781T>G NP_001394254.1:p.Leu261Val NC_000015.10:63062653:T:G p.(Leu261Val) NC_000015.10:63062653:T:G p.(Leu261Val) NC_000015.10:63062653:T:G Identity +NM_001128602.2:c.2104A>G NP_001122074.1:p.Lys702Glu NC_000015.10:38494431:T:C p.(Lys702Glu) NC_000015.10:38494431:T:C p.(Lys702Glu) NC_000015.10:38494431:T:C Identity +NM_001369.3:c.561G>C NP_001360.1:p.Glu187Asp NC_000005.10:13922205:C:G p.(Glu187Asp) NC_000005.10:13922205:C:G p.(Glu187Asp) NC_000005.10:13922205:C:G Identity +NM_000283.4:c.2095C>A NP_000274.3:p.Leu699Met NC_000004.12:664186:C:A p.(Leu699Met) NC_000004.12:664186:C:A p.(Leu699Met) NC_000004.12:664186:C:A Identity +NM_001122681.2:c.814G>A NP_001116153.1:p.Ala272Thr NC_000004.12:2829719:G:A p.(Ala272Thr) NC_000004.12:2829719:G:A p.(Ala272Thr) NC_000004.12:2829719:G:A Identity +NM_153461.4:c.302C>T NP_703191.2:p.Thr101Met NC_000003.12:9917616:C:T p.(Thr101Met) NC_000003.12:9917616:C:T p.(Thr101Met) NC_000003.12:9917616:C:T Identity +NM_001178004.2:c.702T>A NP_001171475.1:p.Asp234Glu NC_000013.11:100257658:T:A p.(Asp234Glu) NC_000013.11:100257658:T:A p.(Asp234Glu) NC_000013.11:100257658:T:A Identity +NM_000718.4:c.4478A>G NP_000709.1:p.Tyr1493Cys NC_000009.12:138059082:A:G p.(Tyr1493Cys) NC_000009.12:138059082:A:G p.(Tyr1493Cys) NC_000009.12:138059082:A:G Identity +NM_138348.6:c.149A>C NP_612357.4:p.Glu50Ala NC_000005.10:14664973:A:C p.(Glu50Ala) NC_000005.10:14664973:A:C p.(Glu50Ala) NC_000005.10:14664973:A:C Identity +LRG_1301t1:c.1120del LRG_1301p1:p.Ser374fs NC_000004.12:145655294:AAA:AA ERR:Data provider error: ValueError: Transcript LRG_1301t1 not found ERR:Data provider error: ValueError: Transcript LRG_1301t1 not found ERR:AlignmentMapper(tx_ac=LRG_1301t1, alt_ac=LRG_1301t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1301t1, alt_ac=LRG_1301t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1301t1 not found +NM_000094.4:c.5377T>C NP_000085.1:p.Ser1793Pro NC_000003.12:48579207:A:G p.(Ser1793Pro) NC_000003.12:48579207:A:G p.(Ser1793Pro) NC_000003.12:48579207:A:G Identity +NM_001853.4:c.26C>G NP_001844.3:p.Pro9Arg NC_000020.11:62817089:C:G p.(Pro9Arg) NC_000020.11:62817089:C:G p.(Pro9Arg) NC_000020.11:62817089:C:G Identity +NM_004525.3:c.11005G>C NP_004516.2:p.Glu3669Gln NC_000002.12:169173927:C:G p.(Glu3669Gln) NC_000002.12:169173927:C:G p.(Glu3669Gln) NC_000002.12:169173927:C:G Identity +NM_000154.2:c.609dup NP_000145.1:p.Arg204fs NC_000017.11:75763015:G:GG p.(Arg204GlnfsTer23) NC_000017.11:75763015:G:GG p.(Arg204GlnfsTer23) ERR:SPDI Analogous +NM_001354748.2:c.39T>G NP_001341677.1:p.Asp13Glu NC_000012.12:48131344:T:G p.(Asp13Glu) NC_000012.12:48131344:T:G p.(Asp13Glu) NC_000012.12:48131344:T:G Identity +NM_206933.4:c.14408_14420del NP_996816.3:p.Ile4803fs NC_000001.11:215648689:GCCTCTACTCCAA: p.(Ile4803ThrfsTer16) NC_000001.11:215648689:GCCTCTACTCCAA: p.(Ile4803ThrfsTer16) NC_000001.11:215648689:GCCTCTACTCCAA: Analogous +NM_001080463.2:c.496A>G NP_001073932.1:p.Thr166Ala NC_000011.10:103114231:A:G p.(Thr166Ala) NC_000011.10:103114231:A:G p.(Thr166Ala) NC_000011.10:103114231:A:G Identity +NM_001085372.3:c.142A>G NP_001078841.1:p.Arg48Gly NC_000011.10:62671973:A:G p.(Arg48Gly) NC_000011.10:62671973:A:G p.(Arg48Gly) NC_000011.10:62671973:A:G Identity +NM_001159772.2:c.991G>A NP_001153244.1:p.Ala331Thr NC_000017.11:78993764:C:T p.(Ala331Thr) NC_000017.11:78993764:C:T p.(Ala331Thr) NC_000017.11:78993764:C:T Identity +NM_001346899.2:c.3491G>C NP_001333828.1:p.Gly1164Ala NC_000007.14:55205609:G:C p.(Gly1164Ala) NC_000007.14:55205609:G:C p.(Gly1164Ala) NC_000007.14:55205609:G:C Identity +NM_001374425.1:c.700G>A NP_001361354.1:p.Val234Ile NC_000001.11:2406852:C:T p.(Val234Ile) NC_000001.11:2406852:C:T p.(Val234Ile) NC_000001.11:2406852:C:T Identity +NM_170606.3:c.6779C>G NP_733751.2:p.Ala2260Gly NC_000007.14:152181080:G:C p.(Ala2260Gly) NC_000007.14:152181080:G:C p.(Ala2260Gly) NC_000007.14:152181080:G:C Identity +NM_001174116.3:c.8069T>A NP_001167587.1:p.Val2690Asp NC_000015.10:51458571:A:T p.(Val2690Asp) NC_000015.10:51458571:A:T p.(Val2690Asp) NC_000015.10:51458571:A:T Identity +NM_000260.4:c.121G>T NP_000251.3:p.Asp41Tyr NC_000011.10:77142810:G:T p.(Asp41Tyr) NC_000011.10:77142810:G:T p.(Asp41Tyr) NC_000011.10:77142810:G:T Identity +NM_178857.6:c.198C>G NP_849188.4:p.Asp66Glu NC_000008.11:10623003:G:C p.(Asp66Glu) NC_000008.11:10623003:G:C p.(Asp66Glu) NC_000008.11:10623003:G:C Identity +NM_139025.5:c.4040G>A NP_620594.1:p.Gly1347Asp NC_000009.12:133458056:G:A p.(Gly1347Asp) NC_000009.12:133458056:G:A p.(Gly1347Asp) NC_000009.12:133458056:G:A Identity +NM_032119.4:c.6245_6249del NP_115495.3:p.Thr2082fs NC_000005.10:90684163:TACTTTA:TA p.(Thr2082SerfsTer18) NC_000005.10:90684163:TACTTTA:TA p.(Thr2082SerfsTer18) NC_000005.10:90684165:CTTTA: Analogous +NM_001308122.2:c.499C>T NP_001295051.1:p.Pro167Ser NC_000005.10:132378410:C:T p.(Pro167Ser) NC_000005.10:132378410:C:T p.(Pro167Ser) NC_000005.10:132378410:C:T Identity +NM_005546.4:c.1705G>A NP_005537.3:p.Glu569Lys NC_000005.10:157248920:G:A p.(Glu569Lys) NC_000005.10:157248920:G:A p.(Glu569Lys) NC_000005.10:157248920:G:A Identity +NM_005914.4:c.732CTT[1] NP_005905.2:p.Phe246del NC_000008.11:47964610:TCTTCTT:TCTT p.(Phe246del) NC_000008.11:47964611:C:CTT ERR:Parse ERR:Parse Identity +NM_020693.4:c.3769C>T NP_065744.3:p.Arg1257Cys NC_000011.10:117443978:G:A p.(Arg1257Cys) NC_000011.10:117443978:G:A p.(Arg1257Cys) NC_000011.10:117443978:G:A Identity +NM_001201459.2:c.1330G>A NP_001188388.1:p.Ala444Thr NC_000002.12:27377654:C:T p.(Ala444Thr) NC_000002.12:27377654:C:T p.(Ala444Thr) NC_000002.12:27377654:C:T Identity +NM_000085.5:c.892G>A NP_000076.2:p.Ala298Thr NC_000001.11:16049839:G:A p.(Ala298Thr) NC_000001.11:16049839:G:A p.(Ala298Thr) NC_000001.11:16049839:G:A Identity +NM_001384732.1:c.2836A>G NP_001371661.1:p.Met946Val NC_000005.10:37213642:T:C p.(Met946Val) NC_000005.10:37213642:T:C p.(Met946Val) NC_000005.10:37213642:T:C Identity +NM_001143779.2:c.1511T>G NP_001137251.1:p.Leu504Arg NC_000012.12:110192659:T:G p.(Leu504Arg) NC_000012.12:110192659:T:G p.(Leu504Arg) NC_000012.12:110192659:T:G Identity +NM_000245.4:c.1623C>G NP_000236.2:p.Cys541Trp NC_000007.14:116740946:C:G p.(Cys541Trp) NC_000007.14:116740946:C:G p.(Cys541Trp) NC_000007.14:116740946:C:G Identity +NM_000553.6:c.3071C>T NP_000544.2:p.Thr1024Ile NC_000008.11:31141532:C:T p.(Thr1024Ile) NC_000008.11:31141532:C:T p.(Thr1024Ile) NC_000008.11:31141532:C:T Identity +NM_173354.5:c.1257_1258delinsTG NP_775490.2:p.Pro420Ala NC_000021.9:43419224:GG:CA p.(Pro420Ala) NC_000021.9:43419224:GG:CA p.(Pro420Ala) NC_000021.9:43419224:GG:CA Identity +NM_001270476.2:c.902G>A NP_001257405.1:p.Arg301Lys NC_000006.12:43009424:G:A p.(Arg301Lys) NC_000006.12:43009424:G:A p.(Arg301Lys) NC_000006.12:43009424:G:A Identity +NM_020381.4:c.1123G>A NP_065114.3:p.Ala375Thr NC_000006.12:107154695:C:T p.(Ala375Thr) NC_000006.12:107154695:C:T p.(Ala375Thr) NC_000006.12:107154695:C:T Identity +NM_001081640.2:c.8930A>G NP_001075109.1:p.Asn2977Ser NC_000008.11:47821784:T:C p.(Asn2977Ser) NC_000008.11:47821784:T:C p.(Asn2977Ser) NC_000008.11:47821784:T:C Identity +NM_032119.4:c.14120A>T NP_115495.3:p.Asp4707Val NC_000005.10:90790948:A:T p.(Asp4707Val) NC_000005.10:90790948:A:T p.(Asp4707Val) NC_000005.10:90790948:A:T Identity +NM_015346.4:c.7565A>G NP_056161.2:p.Gln2522Arg NC_000014.9:67748490:T:C p.(Gln2522Arg) NC_000014.9:67748490:T:C p.(Gln2522Arg) NC_000014.9:67748490:T:C Identity +NM_032119.4:c.2669T>C NP_115495.3:p.Ile890Thr NC_000005.10:90643917:T:C p.(Ile890Thr) NC_000005.10:90643917:T:C p.(Ile890Thr) NC_000005.10:90643917:T:C Identity +NM_001303496.3:c.2349T>A NP_001290425.1:p.Asn783Lys NC_000007.14:93133622:A:T p.(Asn783Lys) NC_000007.14:93133622:A:T p.(Asn783Lys) NC_000007.14:93133622:A:T Identity +NM_001142800.2:c.6016C>T NP_001136272.1:p.Pro2006Ser NC_000006.12:64388751:G:A p.(Pro2006Ser) NC_000006.12:64388751:G:A p.(Pro2006Ser) NC_000006.12:64388751:G:A Identity +NM_003052.5:c.1879C>T NP_003043.3:p.Arg627Cys NC_000005.10:177398244:C:T p.(Arg627Cys) NC_000005.10:177398244:C:T p.(Arg627Cys) NC_000005.10:177398244:C:T Identity +NM_020461.4:c.2560G>C NP_065194.3:p.Ala854Pro NC_000022.11:50221798:C:G p.(Ala854Pro) NC_000022.11:50221798:C:G p.(Ala854Pro) NC_000022.11:50221798:C:G Identity +NM_003322.6:c.248C>A NP_003313.3:p.Ala83Glu NC_000006.12:35511748:G:T p.(Ala83Glu) NC_000006.12:35511748:G:T p.(Ala83Glu) NC_000006.12:35511748:G:T Identity +NM_001204182.2:c.212A>G NP_001191111.1:p.Tyr71Cys NC_000001.11:211674397:T:C p.(Tyr71Cys) NC_000001.11:211674397:T:C p.(Tyr71Cys) NC_000001.11:211674397:T:C Identity +NM_002470.4:c.129_132del NP_002461.2:p.Glu45fs NC_000017.11:10654932:CTTT: p.(Glu45AsnfsTer35) NC_000017.11:10654932:CTTT: p.(Glu45AsnfsTer35) NC_000017.11:10654932:CTTT: Analogous +NM_015965.7:c.91T>G NP_057049.5:p.Ser31Ala NC_000019.10:19516328:T:G p.(Ser31Ala) NC_000019.10:19516328:T:G p.(Ser31Ala) NC_000019.10:19516328:T:G Identity +NM_001301031.1:c.1279C>G NP_001287960.1:p.Leu427Val NC_000015.10:65625358:C:G p.(Leu427Val) NC_000015.10:65625358:C:G p.(Leu427Val) NC_000015.10:65625358:C:G Identity +NM_003482.4:c.6565T>C NP_003473.3:p.Phe2189Leu NC_000012.12:49041204:A:G p.(Phe2189Leu) NC_000012.12:49041204:A:G p.(Phe2189Leu) NC_000012.12:49041204:A:G Identity +NM_032444.4:c.4451C>T NP_115820.2:p.Thr1484Ile NC_000016.10:3589186:G:A p.(Thr1484Ile) NC_000016.10:3589186:G:A p.(Thr1484Ile) NC_000016.10:3589186:G:A Identity +NM_001301226.2:c.379A>G NP_001288155.1:p.Met127Val NC_000009.12:35685546:T:C p.(Met127Val) NC_000009.12:35685546:T:C p.(Met127Val) NC_000009.12:35685546:T:C Identity +LRG_564t1:c.406G>A LRG_564p1:p.Gly136Ser NC_000010.11:102065879:G:A ERR:Data provider error: ValueError: Transcript LRG_564t1 not found ERR:Data provider error: ValueError: Transcript LRG_564t1 not found ERR:AlignmentMapper(tx_ac=LRG_564t1, alt_ac=LRG_564t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_564t1, alt_ac=LRG_564t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_564t1 not found +NM_014028.4:c.295A>G NP_054747.2:p.Thr99Ala NC_000006.12:108074356:T:C p.(Thr99Ala) NC_000006.12:108074356:T:C p.(Thr99Ala) NC_000006.12:108074356:T:C Identity +NM_000466.3:c.2276G>A NP_000457.1:p.Cys759Tyr NC_000007.14:92502029:C:T p.(Cys759Tyr) NC_000007.14:92502029:C:T p.(Cys759Tyr) NC_000007.14:92502029:C:T Identity +LRG_877t4:c.2552T>A LRG_877p4:p.Val851Glu NC_000012.12:45423024:T:A ERR:Data provider error: ValueError: Transcript LRG_877t4 not found ERR:Data provider error: ValueError: Transcript LRG_877t4 not found ERR:AlignmentMapper(tx_ac=LRG_877t4, alt_ac=LRG_877t4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_877t4, alt_ac=LRG_877t4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_877t4 not found +NM_001160036.2:c.1346G>A NP_001153508.1:p.Arg449Gln NC_000008.11:23007524:G:A p.(Arg449Gln) NC_000008.11:23007524:G:A p.(Arg449Gln) NC_000008.11:23007524:G:A Identity +NM_014762.4:c.995C>T NP_055577.1:p.Thr332Met NC_000001.11:54865327:G:A p.(Thr332Met) NC_000001.11:54865327:G:A p.(Thr332Met) NC_000001.11:54865327:G:A Identity +NM_000978.4:c.115A>G NP_000969.1:p.Ile39Val NC_000017.11:38852714:T:C p.(Ile39Val) NC_000017.11:38852714:T:C p.(Ile39Val) NC_000017.11:38852714:T:C Identity +NM_000238.4:c.419C>A NP_000229.1:p.Ser140Tyr NC_000007.14:150959624:G:T p.(Ser140Tyr) NC_000007.14:150959624:G:T p.(Ser140Tyr) NC_000007.14:150959624:G:T Identity +NM_001291285.3:c.9988G>T NP_001278214.1:p.Gly3330Cys NC_000004.12:125450997:G:T p.(Gly3330Cys) NC_000004.12:125450997:G:T p.(Gly3330Cys) NC_000004.12:125450997:G:T Identity +NM_000190.4:c.248A>G NP_000181.2:p.His83Arg NC_000011.10:119089253:A:G p.(His83Arg) NC_000011.10:119089253:A:G p.(His83Arg) NC_000011.10:119089253:A:G Identity +NM_006563.5:c.346T>G NP_006554.1:p.Tyr116Asp NC_000019.10:12885883:A:C p.(Tyr116Asp) NC_000019.10:12885883:A:C p.(Tyr116Asp) NC_000019.10:12885883:A:C Identity +NM_001081.4:c.2790G>C NP_001072.2:p.Leu930Phe NC_000010.11:17068605:C:G p.(Leu930Phe) NC_000010.11:17068605:C:G p.(Leu930Phe) NC_000010.11:17068605:C:G Identity +NM_001270507.2:c.1085A>C NP_001257436.1:p.Gln362Pro NC_000006.12:137878529:A:C p.(Gln362Pro) NC_000006.12:137878529:A:C p.(Gln362Pro) NC_000006.12:137878529:A:C Identity +NM_001320759.2:c.1875T>A NP_001307688.1:p.Phe625Leu NC_000017.11:18278341:A:T p.(Phe625Leu) NC_000017.11:18278341:A:T p.(Phe625Leu) NC_000017.11:18278341:A:T Identity +NM_032444.4:c.1448T>C NP_115820.2:p.Ile483Thr NC_000016.10:3597613:A:G p.(Ile483Thr) NC_000016.10:3597613:A:G p.(Ile483Thr) NC_000016.10:3597613:A:G Identity +NM_001135999.2:c.1967G>C NP_001129471.2:p.Ser656Thr NC_000009.12:35548487:G:C p.(Ser656Thr) NC_000009.12:35548487:G:C p.(Ser656Thr) NC_000009.12:35548487:G:C Identity +NM_001285829.2:c.714C>A NP_001272758.1:p.Cys238Ter NC_000019.10:33301343:G:T p.(Cys238Ter) NC_000019.10:33301343:G:T p.(Cys238Ter) NC_000019.10:33301343:G:T Identity +NM_021076.4:c.856A>G NP_066554.2:p.Thr286Ala NC_000022.11:29481117:A:G p.(Thr286Ala) NC_000022.11:29481117:A:G p.(Thr286Ala) NC_000022.11:29481117:A:G Identity +NM_001346813.1:c.724G>A NP_001333742.1:p.Gly242Ser NC_000006.12:156778652:G:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001244008.2:c.457C>T NP_001230937.1:p.Arg153Cys NC_000002.12:240786485:G:A p.(Arg153Cys) NC_000002.12:240786485:G:A p.(Arg153Cys) NC_000002.12:240786485:G:A Identity +NM_001243776.2:c.1369A>G NP_001230705.1:p.Met457Val NC_000011.10:95831148:A:G p.(Met457Val) NC_000011.10:95831148:A:G p.(Met457Val) NC_000011.10:95831148:A:G Identity +NM_005112.5:c.1186G>C NP_005103.2:p.Val396Leu NC_000004.12:10077411:C:G p.(Val396Leu) NC_000004.12:10077411:C:G p.(Val396Leu) NC_000004.12:10077411:C:G Identity +NM_001174116.3:c.1318C>T NP_001167587.1:p.Arg440Trp NC_000015.10:51538239:G:A p.(Arg440Trp) NC_000015.10:51538239:G:A p.(Arg440Trp) NC_000015.10:51538239:G:A Identity +NM_019066.5:c.1919C>T NP_061939.3:p.Pro640Leu NC_000015.10:23645823:G:A p.(Pro640Leu) NC_000015.10:23645823:G:A p.(Pro640Leu) NC_000015.10:23645823:G:A Identity +NM_001193503.2:c.642C>G NP_001180432.1:p.Tyr214Ter NC_000017.11:4955509:C:G p.(Tyr214Ter) NC_000017.11:4955509:C:G p.(Tyr214Ter) NC_000017.11:4955509:C:G Identity +NM_000812.4:c.34C>T NP_000803.2:p.Leu12Phe NC_000004.12:47031684:C:T p.(Leu12Phe) NC_000004.12:47031684:C:T p.(Leu12Phe) NC_000004.12:47031684:C:T Identity +NM_000260.4:c.956C>T NP_000251.3:p.Ser319Leu NC_000011.10:77158382:C:T p.(Ser319Leu) NC_000011.10:77158382:C:T p.(Ser319Leu) NC_000011.10:77158382:C:T Identity +NM_001407904.1:c.1762A>G NP_001394833.1:p.Met588Val NC_000017.11:43093558:T:C p.(Met588Val) NC_000017.11:43093558:T:C p.(Met588Val) NC_000017.11:43093558:T:C Identity +NM_004994.3:c.140A>G NP_004985.2:p.Glu47Gly NC_000020.11:46009866:A:G p.(Glu47Gly) NC_000020.11:46009866:A:G p.(Glu47Gly) NC_000020.11:46009866:A:G Identity +NM_000275.3:c.205G>A NP_000266.2:p.Ala69Thr NC_000015.10:28081669:C:T p.(Ala69Thr) NC_000015.10:28081669:C:T p.(Ala69Thr) NC_000015.10:28081669:C:T Identity +NM_001001563.5:c.267C>G NP_001001563.2:p.Asn89Lys NC_000019.10:39482891:C:G p.(Asn89Lys) NC_000019.10:39482891:C:G p.(Asn89Lys) NC_000019.10:39482891:C:G Identity +NM_001363823.2:c.868G>T NP_001350752.1:p.Gly290Cys NC_000002.12:32115701:G:T p.(Gly290Cys) NC_000002.12:32115701:G:T p.(Gly290Cys) NC_000002.12:32115701:G:T Identity +NM_001254734.2:c.1108G>C NP_001241663.1:p.Gly370Arg NC_000020.11:2403594:G:C p.(Gly370Arg) NC_000020.11:2403594:G:C p.(Gly370Arg) NC_000020.11:2403594:G:C Identity +NM_139025.5:c.1669C>T NP_620594.1:p.Pro557Ser NC_000009.12:133438329:C:T p.(Pro557Ser) NC_000009.12:133438329:C:T p.(Pro557Ser) NC_000009.12:133438329:C:T Identity +NM_001318245.2:c.4550A>T NP_001305174.1:p.Asp1517Val NC_000022.11:25895158:A:T p.(Asp1517Val) NC_000022.11:25895158:A:T p.(Asp1517Val) NC_000022.11:25895158:A:T Identity +NM_005708.5:c.1643T>C NP_005699.1:p.Leu548Pro NC_000013.11:94403191:T:C p.(Leu548Pro) NC_000013.11:94403191:T:C p.(Leu548Pro) NC_000013.11:94403191:T:C Identity +NM_000487.6:c.926A>G NP_000478.3:p.Glu309Gly NC_000022.11:50626206:T:C p.(Glu309Gly) NC_000022.11:50626206:T:C p.(Glu309Gly) NC_000022.11:50626206:T:C Identity +LRG_423t1:c.848T>G LRG_423p1:p.Ile283Ser NC_000006.12:7565428:T:G ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_423t1 not found +NM_020884.7:c.536C>T NP_065935.4:p.Ser179Leu NC_000020.11:34982466:C:T p.(Ser179Leu) NC_000020.11:34982466:C:T p.(Ser179Leu) NC_000020.11:34982466:C:T Identity +NM_001099952.4:c.4764C>G NP_001093422.2:p.Asp1588Glu NC_000003.12:4706299:C:G p.(Asp1588Glu) NC_000003.12:4706299:C:G p.(Asp1588Glu) NC_000003.12:4706299:C:G Identity +NM_001326358.2:c.1201C>T NP_001313287.1:p.Arg401Trp NC_000016.10:77335897:G:A p.(Arg401Trp) NC_000016.10:77335897:G:A p.(Arg401Trp) NC_000016.10:77335897:G:A Identity +NM_001191060.2:c.321G>C NP_001177989.1:p.Met107Ile NC_000011.10:792960:C:G p.(Met107Ile) NC_000011.10:792960:C:G p.(Met107Ile) NC_000011.10:792960:C:G Identity +NM_001365684.2:c.2600A>G NP_001352613.2:p.Lys867Arg NC_000005.10:177211871:A:G p.(Lys867Arg) NC_000005.10:177211871:A:G p.(Lys867Arg) NC_000005.10:177211871:A:G Identity +NM_014003.4:c.3488G>A NP_054722.2:p.Arg1163His NC_000016.10:72110965:G:A p.(Arg1163His) NC_000016.10:72110965:G:A p.(Arg1163His) NC_000016.10:72110965:G:A Identity +NM_001122633.3:c.549T>G NP_001116105.2:p.Ile183Met NC_000002.12:210582636:T:G p.(Ile183Met) NC_000002.12:210582636:T:G p.(Ile183Met) NC_000002.12:210582636:T:G Identity +NM_001201543.2:c.1906G>A NP_001188472.1:p.Gly636Arg NC_000002.12:61827203:C:T p.(Gly636Arg) NC_000002.12:61827203:C:T p.(Gly636Arg) NC_000002.12:61827203:C:T Identity +NM_001363602.2:c.61G>A NP_001350531.1:p.Val21Met NC_000019.10:1388531:G:A p.(Val21Met) NC_000019.10:1388531:G:A p.(Val21Met) NC_000019.10:1388531:G:A Identity +NM_000492.4:c.2881A>G NP_000483.3:p.Met961Val NC_000007.14:117603754:A:G p.(Met961Val) NC_000007.14:117603754:A:G p.(Met961Val) NC_000007.14:117603754:A:G Identity +NM_000424.4:c.604C>G NP_000415.2:p.Leu202Val NC_000012.12:52519111:G:C p.(Leu202Val) NC_000012.12:52519111:G:C p.(Leu202Val) NC_000012.12:52519111:G:C Identity +NM_001164507.2:c.7144A>G NP_001157979.2:p.Lys2382Glu NC_000002.12:151650656:T:C p.(Lys2382Glu) NC_000002.12:151650656:T:C p.(Lys2382Glu) NC_000002.12:151650656:T:C Identity +NM_020884.7:c.1573G>A NP_065935.4:p.Asp525Asn NC_000020.11:34988247:G:A p.(Asp525Asn) NC_000020.11:34988247:G:A p.(Asp525Asn) NC_000020.11:34988247:G:A Identity +NM_001288607.2:c.925C>G NP_001275536.1:p.Arg309Gly NC_000001.11:150553915:C:G p.(Arg309Gly) NC_000001.11:150553915:C:G p.(Arg309Gly) NC_000001.11:150553915:C:G Identity +NM_000391.4:c.1436C>T NP_000382.3:p.Pro479Leu NC_000011.10:6614980:G:A p.(Pro479Leu) NC_000011.10:6614980:G:A p.(Pro479Leu) NC_000011.10:6614980:G:A Identity +NM_018706.7:c.851T>C NP_061176.4:p.Leu284Ser NC_000010.11:12089118:T:C p.(Leu284Ser) NC_000010.11:12089118:T:C p.(Leu284Ser) NC_000010.11:12089118:T:C Identity +NM_000908.4:c.51G>C NP_000899.1:p.Trp17Cys NC_000005.10:32711826:G:C p.(Trp17Cys) NC_000005.10:32711826:G:C p.(Trp17Cys) NC_000005.10:32711826:G:C Identity +NM_003906.5:c.2719A>G NP_003897.2:p.Met907Val NC_000021.9:46267051:T:C p.(Met907Val) NC_000021.9:46267051:T:C p.(Met907Val) NC_000021.9:46267051:T:C Identity +NM_001318360.2:c.1016G>A NP_001305289.1:p.Cys339Tyr NC_000009.12:108911011:C:T p.(Cys339Tyr) NC_000009.12:108911011:C:T p.(Cys339Tyr) NC_000009.12:108911011:C:T Identity +NM_001256545.2:c.917G>C NP_001243474.1:p.Arg306Pro NC_000005.10:127402681:G:C p.(Arg306Pro) NC_000005.10:127402681:G:C p.(Arg306Pro) NC_000005.10:127402681:G:C Identity +NM_000493.4:c.863G>C NP_000484.2:p.Gly288Ala NC_000006.12:116121252:C:G p.(Gly288Ala) NC_000006.12:116121252:C:G p.(Gly288Ala) NC_000006.12:116121252:C:G Identity +NM_001353765.2:c.719C>T NP_001340694.1:p.Ser240Phe NC_000002.12:29207185:G:A p.(Ser240Phe) NC_000002.12:29207185:G:A p.(Ser240Phe) NC_000002.12:29207185:G:A Identity +NM_001271995.2:c.930G>A NP_001258924.1:p.Val310= NC_000019.10:4171132:G:A p.(Val310=) NC_000019.10:4171132:G:A p.(Val310=) NC_000019.10:4171132:G:A Identity +NM_020231.3:c.451A>G NP_064616.2:p.Ser151Gly NC_000003.12:119477442:A:G ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020231.3 not found +NM_001294332.2:c.784G>A NP_001281261.1:p.Gly262Arg NC_000005.10:233508:G:A p.(Gly262Arg) NC_000005.10:233508:G:A p.(Gly262Arg) NC_000005.10:233508:G:A Identity +NM_005216.5:c.382T>G NP_005207.3:p.Cys128Gly NC_000001.11:20655749:A:C p.(Cys128Gly) NC_000001.11:20655749:A:C p.(Cys128Gly) NC_000001.11:20655749:A:C Identity +NM_001193493.2:c.613G>C NP_001180422.1:p.Glu205Gln NC_000002.12:65021053:G:C p.(Glu205Gln) NC_000002.12:65021053:G:C p.(Glu205Gln) NC_000002.12:65021053:G:C Identity +NM_001303496.3:c.94C>T NP_001290425.1:p.Gln32Ter NC_000007.14:93135877:G:A p.(Gln32Ter) NC_000007.14:93135877:G:A p.(Gln32Ter) NC_000007.14:93135877:G:A Identity +NM_014704.4:c.1216A>G NP_055519.1:p.Ser406Gly NC_000001.11:3836595:T:C p.(Ser406Gly) NC_000001.11:3836595:T:C p.(Ser406Gly) NC_000001.11:3836595:T:C Identity +NM_001318139.2:c.1253A>G NP_001305068.1:p.Gln418Arg NC_000022.11:40419289:T:C p.(Gln418Arg) NC_000022.11:40419289:T:C p.(Gln418Arg) NC_000022.11:40419289:T:C Identity +NM_006269.2:c.6073C>T NP_006260.1:p.Gln2025Ter NC_000008.11:54629954:C:T p.(Gln2025Ter) NC_000008.11:54629954:C:T p.(Gln2025Ter) NC_000008.11:54629954:C:T Identity +NM_001012614.2:c.20C>A NP_001012632.1:p.Pro7Gln NC_000004.12:1238324:G:T p.(Pro7Gln) NC_000004.12:1238324:G:T p.(Pro7Gln) NC_000004.12:1238324:G:T Identity +NM_007123.6:c.117G>C NP_009054.6:p.Arg39Ser NC_000001.11:216422219:C:G p.(Arg39Ser) NC_000001.11:216422219:C:G p.(Arg39Ser) NC_000001.11:216422219:C:G Identity +NM_001410858.1:c.1237C>G NP_001397787.1:p.His413Asp NC_000018.10:45952414:G:C p.(His413Asp) NC_000018.10:45952414:G:C p.(His413Asp) NC_000018.10:45952414:G:C Identity +NM_001282660.2:c.1620G>A NP_001269589.1:p.Met540Ile NC_000022.11:40418817:C:T p.(Met540Ile) NC_000022.11:40418817:C:T p.(Met540Ile) NC_000022.11:40418817:C:T Identity +NM_001318219.1:c.2599C>T NP_001305148.1:p.Arg867Ter NC_000020.11:35502863:C:T p.(Arg867Ter) NC_000020.11:35502863:C:T p.(Arg867Ter) NC_000020.11:35502863:C:T Identity +NM_001042473.4:c.446G>A NP_001035938.1:p.Ser149Asn NC_000010.11:27219796:C:T p.(Ser149Asn) NC_000010.11:27219796:C:T p.(Ser149Asn) NC_000010.11:27219796:C:T Identity +NM_001291593.2:c.1928T>A NP_001278522.1:p.Phe643Tyr NC_000001.11:5867744:A:T p.(Phe643Tyr) NC_000001.11:5867744:A:T p.(Phe643Tyr) NC_000001.11:5867744:A:T Identity +NM_005733.3:c.442G>A NP_005724.1:p.Val148Ile NC_000005.10:138182388:G:A p.(Val148Ile) NC_000005.10:138182388:G:A p.(Val148Ile) NC_000005.10:138182388:G:A Identity +NM_001163812.2:c.1111C>T NP_001157284.1:p.Arg371Trp NC_000010.11:100989320:C:T p.(Arg371Trp) NC_000010.11:100989320:C:T p.(Arg371Trp) NC_000010.11:100989320:C:T Identity +NM_001351020.2:c.5C>T NP_001337949.1:p.Ala2Val NC_000012.12:122266403:G:A p.(Ala2Val) NC_000012.12:122266403:G:A p.(Ala2Val) NC_000012.12:122266403:G:A Identity +NM_001282352.2:c.919G>A NP_001269281.1:p.Ala307Thr NC_000019.10:8586415:C:T p.(Ala307Thr) NC_000019.10:8586415:C:T p.(Ala307Thr) NC_000019.10:8586415:C:T Identity +NM_001123226.2:c.901C>T NP_001116698.1:p.Leu301Phe NC_000006.12:73479806:C:T p.(Leu301Phe) NC_000006.12:73479806:C:T p.(Leu301Phe) NC_000006.12:73479806:C:T Identity +NM_001367561.1:c.4274C>T NP_001354490.1:p.Ser1425Phe NC_000001.11:62513451:G:A p.(Ser1425Phe) NC_000001.11:62513451:G:A p.(Ser1425Phe) NC_000001.11:62513451:G:A Identity +NM_001271999.2:c.847G>T NP_001258928.1:p.Ala283Ser NC_000001.11:62636574:C:A p.(Ala283Ser) NC_000001.11:62636574:C:A p.(Ala283Ser) NC_000001.11:62636574:C:A Identity +NM_001077397.1:c.8C>G NP_001070865.1:p.Ala3Gly NC_000001.11:234609486:G:C p.(Ala3Gly) NC_000001.11:234609486:G:C p.(Ala3Gly) NC_000001.11:234609486:G:C Identity +NM_001014796.3:c.677C>G NP_001014796.1:p.Thr226Arg NC_000001.11:162759800:C:G p.(Thr226Arg) NC_000001.11:162759800:C:G p.(Thr226Arg) NC_000001.11:162759800:C:G Identity +NM_001144769.5:c.11446C>A NP_001138241.1:p.Leu3816Met NC_000006.12:56527611:G:T p.(Leu3816Met) NC_000006.12:56527611:G:T p.(Leu3816Met) NC_000006.12:56527611:G:T Identity +NM_005876.5:c.1711C>A NP_005867.3:p.Pro571Thr NC_000002.12:219448868:C:A p.(Pro571Thr) NC_000002.12:219448868:C:A p.(Pro571Thr) NC_000002.12:219448868:C:A Identity +NM_016247.4:c.263del NP_057331.2:p.Gly88fs NC_000003.12:101319654:CC:C p.(Gly88GlufsTer2) NC_000003.12:101319654:CC:C p.(Gly88GlufsTer2) NC_000003.12:101319654:C: Analogous +NM_001042437.2:c.35A>G NP_001035902.1:p.Tyr12Cys NC_000002.12:85863463:T:C p.(Tyr12Cys) NC_000002.12:85863463:T:C p.(Tyr12Cys) NC_000002.12:85863463:T:C Identity +NM_000492.4:c.527G>T NP_000483.3:p.Ser176Ile NC_000007.14:117534312:G:T p.(Ser176Ile) NC_000007.14:117534312:G:T p.(Ser176Ile) NC_000007.14:117534312:G:T Identity +NM_001354609.2:c.1004C>T NP_001341538.1:p.Ser335Phe NC_000007.14:140794443:G:A p.(Ser335Phe) NC_000007.14:140794443:G:A p.(Ser335Phe) NC_000007.14:140794443:G:A Identity +NM_000537.4:c.265G>A NP_000528.1:p.Glu89Lys NC_000001.11:204161399:C:T p.(Glu89Lys) NC_000001.11:204161399:C:T p.(Glu89Lys) NC_000001.11:204161399:C:T Identity +NM_003105.6:c.1480A>T NP_003096.2:p.Ile494Phe NC_000011.10:121522660:A:T p.(Ile494Phe) NC_000011.10:121522660:A:T p.(Ile494Phe) NC_000011.10:121522660:A:T Identity +NM_001168407.2:c.2736G>C NP_001161879.1:p.Lys912Asn NC_000006.12:72399009:G:C p.(Lys912Asn) NC_000006.12:72399009:G:C p.(Lys912Asn) NC_000006.12:72399009:G:C Identity +NM_001267722.2:c.1636G>A NP_001254651.1:p.Ala546Thr NC_000004.12:56500675:G:A p.(Ala546Thr) NC_000004.12:56500675:G:A p.(Ala546Thr) NC_000004.12:56500675:G:A Identity +NM_020376.4:c.1107G>C NP_065109.1:p.Gln369His NC_000011.10:824367:G:C p.(Gln369His) NC_000011.10:824367:G:C p.(Gln369His) NC_000011.10:824367:G:C Identity +NM_001410858.1:c.2462G>A NP_001397787.1:p.Arg821Gln NC_000018.10:45928959:C:T p.(Arg821Gln) NC_000018.10:45928959:C:T p.(Arg821Gln) NC_000018.10:45928959:C:T Identity +NM_018060.4:c.799C>T NP_060530.3:p.Arg267Cys NC_000001.11:220102543:C:T p.(Arg267Cys) NC_000001.11:220102543:C:T p.(Arg267Cys) NC_000001.11:220102543:C:T Identity +NM_001365999.1:c.2747G>T NP_001352928.1:p.Arg916Leu NC_000001.11:43425574:G:T p.(Arg916Leu) NC_000001.11:43425574:G:T p.(Arg916Leu) NC_000001.11:43425574:G:T Identity +NM_001278064.2:c.3386A>T NP_001264993.1:p.Glu1129Val NC_000006.12:146434596:A:T p.(Glu1129Val) NC_000006.12:146434596:A:T p.(Glu1129Val) NC_000006.12:146434596:A:T Identity +NM_001346754.2:c.901G>T NP_001333683.1:p.Ala301Ser NC_000017.11:36538001:G:T p.(Ala301Ser) NC_000017.11:36538001:G:T p.(Ala301Ser) NC_000017.11:36538001:G:T Identity +NM_004963.4:c.1654A>G NP_004954.2:p.Lys552Glu NC_000012.12:14651462:T:C p.(Lys552Glu) NC_000012.12:14651462:T:C p.(Lys552Glu) NC_000012.12:14651462:T:C Identity +NM_024408.4:c.6710G>C NP_077719.2:p.Ser2237Thr NC_000001.11:119916011:C:G p.(Ser2237Thr) NC_000001.11:119916011:C:G p.(Ser2237Thr) NC_000001.11:119916011:C:G Identity +NM_005045.4:c.6769T>C NP_005036.2:p.Ser2257Pro NC_000007.14:103540357:A:G p.(Ser2257Pro) NC_000007.14:103540357:A:G p.(Ser2257Pro) NC_000007.14:103540357:A:G Identity +NM_001130438.3:c.6175A>G NP_001123910.1:p.Ile2059Val NC_000009.12:128625873:A:G p.(Ile2059Val) NC_000009.12:128625873:A:G p.(Ile2059Val) NC_000009.12:128625873:A:G Identity +NM_001099271.2:c.819C>G NP_001092741.1:p.Asp273Glu NC_000005.10:75690538:G:C p.(Asp273Glu) NC_000005.10:75690538:G:C p.(Asp273Glu) NC_000005.10:75690538:G:C Identity +NM_000188.3:c.1873G>A NP_000179.2:p.Ala625Thr NC_000010.11:69386355:G:A p.(Ala625Thr) NC_000010.11:69386355:G:A p.(Ala625Thr) NC_000010.11:69386355:G:A Identity +NM_001413017.1:c.86A>G NP_001399946.1:p.Asp29Gly NC_000008.11:144517633:T:C p.(Asp29Gly) NC_000008.11:144517633:T:C p.(Asp29Gly) NC_000008.11:144517633:T:C Identity +NM_001197330.2:c.95C>T NP_001184259.1:p.Ala32Val NC_000014.9:49683666:G:A p.(Ala32Val) NC_000014.9:49683666:G:A p.(Ala32Val) NC_000014.9:49683666:G:A Identity +NM_001135771.3:c.677C>T NP_001129243.1:p.Ala226Val NC_000020.11:37207354:C:T p.(Ala226Val) NC_000020.11:37207354:C:T p.(Ala226Val) NC_000020.11:37207354:C:T Identity +NM_007255.3:c.347G>A NP_009186.1:p.Arg116His NC_000005.10:177604474:G:A p.(Arg116His) NC_000005.10:177604474:G:A p.(Arg116His) NC_000005.10:177604474:G:A Identity +NM_080473.5:c.243C>G NP_536721.1:p.His81Gln NC_000020.11:62475278:G:C p.(His81Gln) NC_000020.11:62475278:G:C p.(His81Gln) NC_000020.11:62475278:G:C Identity +NM_001283106.3:c.737C>T NP_001270035.1:p.Ala246Val NC_000022.11:20064567:C:T p.(Ala246Val) NC_000022.11:20064567:C:T p.(Ala246Val) NC_000022.11:20064567:C:T Identity +NM_001172435.2:c.2803G>A NP_001165906.1:p.Val935Met NC_000002.12:135168616:G:A p.(Val935Met) NC_000002.12:135168616:G:A p.(Val935Met) NC_000002.12:135168616:G:A Identity +NM_001130144.3:c.1854_1860dup NP_001123616.1:p.Glu621fs NC_000011.10:65547807:GCACTCG:GCACTCGGCACTCG p.(Glu621ArgfsTer172) NC_000011.10:65547807:GCACTCG:GCACTCGGCACTCG p.(Glu621ArgfsTer172) ERR:SPDI Analogous +NM_001080114.2:c.857G>A NP_001073583.1:p.Arg286Gln NC_000010.11:86710005:G:A p.(Arg286Gln) NC_000010.11:86710005:G:A p.(Arg286Gln) NC_000010.11:86710005:G:A Identity +NM_001080115.2:c.473C>T NP_001073584.1:p.Ala158Val NC_000010.11:86681586:C:T p.(Ala158Val) NC_000010.11:86681586:C:T p.(Ala158Val) NC_000010.11:86681586:C:T Identity +NM_001386500.1:c.1648A>G NP_001373429.1:p.Lys550Glu NC_000001.11:11240440:T:C p.(Lys550Glu) NC_000001.11:11240440:T:C p.(Lys550Glu) NC_000001.11:11240440:T:C Identity +NM_001160227.2:c.929C>T NP_001153699.1:p.Pro310Leu NC_000015.10:44652206:G:A p.(Pro310Leu) NC_000015.10:44652206:G:A p.(Pro310Leu) NC_000015.10:44652206:G:A Identity +NM_032119.4:c.1947T>A NP_115495.3:p.Asn649Lys NC_000005.10:90635220:T:A p.(Asn649Lys) NC_000005.10:90635220:T:A p.(Asn649Lys) NC_000005.10:90635220:T:A Identity +NM_032802.4:c.811A>T NP_116191.2:p.Ile271Leu NC_000015.10:50736662:T:A p.(Ile271Leu) NC_000015.10:50736662:T:A p.(Ile271Leu) NC_000015.10:50736662:T:A Identity +NM_014141.6:c.3814A>C NP_054860.1:p.Ile1272Leu NC_000007.14:148415433:A:C p.(Ile1272Leu) NC_000007.14:148415433:A:C p.(Ile1272Leu) NC_000007.14:148415433:A:C Identity +NM_001165962.2:c.107C>T NP_001159434.1:p.Pro36Leu NC_000017.11:13017840:G:A p.(Pro36Leu) NC_000017.11:13017840:G:A p.(Pro36Leu) NC_000017.11:13017840:G:A Identity +NM_001127244.2:c.442C>T NP_001120716.1:p.Arg148Cys NC_000009.12:128907605:C:T p.(Arg148Cys) NC_000009.12:128907605:C:T p.(Arg148Cys) NC_000009.12:128907605:C:T Identity +NM_000086.2:c.1147C>T NP_000077.1:p.Leu383Phe NC_000016.10:28477786:G:A p.(Leu383Phe) NC_000016.10:28477786:G:A p.(Leu383Phe) NC_000016.10:28477786:G:A Identity +NM_001206846.2:c.4282G>A NP_001193775.1:p.Ala1428Thr NC_000001.11:197094130:C:T p.(Ala1428Thr) NC_000001.11:197094130:C:T p.(Ala1428Thr) NC_000001.11:197094130:C:T Identity +NM_003632.3:c.2980T>C NP_003623.1:p.Tyr994His NC_000017.11:42693523:T:C p.(Tyr994His) NC_000017.11:42693523:T:C p.(Tyr994His) NC_000017.11:42693523:T:C Identity +NM_198506.5:c.233A>G NP_940908.3:p.Tyr78Cys NC_000004.12:109851619:A:G p.(Tyr78Cys) NC_000004.12:109851619:A:G p.(Tyr78Cys) NC_000004.12:109851619:A:G Identity +NM_001171933.1:c.1888G>A NP_001165404.1:p.Ala630Thr NC_000010.11:71807892:G:A p.(Ala630Thr) NC_000010.11:71807892:G:A p.(Ala630Thr) NC_000010.11:71807892:G:A Identity +NM_001060.6:c.1015_1021del NP_001051.1:p.Arg339fs NC_000019.10:3595698:CGGAGCGC:C p.(Arg339GlyfsTer29) NC_000019.10:3595698:CGGAGCGC:C p.(Arg339GlyfsTer29) NC_000019.10:3595698:CGGAGCG: Analogous +NM_001110556.2:c.2189C>T NP_001104026.1:p.Thr730Ile NC_000023.11:154364112:G:A p.(Thr730Ile) NC_000023.11:154364112:G:A p.(Thr730Ile) NC_000023.11:154364112:G:A Identity +NM_001084.5:c.716G>A NP_001075.1:p.Arg239His NC_000007.14:101213167:C:T p.(Arg239His) NC_000007.14:101213167:C:T p.(Arg239His) NC_000007.14:101213167:C:T Identity +NM_001184985.2:c.6566C>T NP_001171914.1:p.Thr2189Ile NC_000012.12:896272:C:T p.(Thr2189Ile) NC_000012.12:896272:C:T p.(Thr2189Ile) NC_000012.12:896272:C:T Identity +NM_003801.4:c.1306G>T NP_003792.1:p.Ala436Ser NC_000008.11:144085333:G:T p.(Ala436Ser) NC_000008.11:144085333:G:T p.(Ala436Ser) NC_000008.11:144085333:G:T Identity +NM_177924.5:c.4C>T NP_808592.2:p.Pro2Ser NC_000008.11:18084054:G:A p.(Pro2Ser) NC_000008.11:18084054:G:A p.(Pro2Ser) NC_000008.11:18084054:G:A Identity +NM_001258214.1:c.371C>T NP_001245143.1:p.Pro124Leu NC_000001.11:67326740:C:T p.(Pro124Leu) NC_000001.11:67326740:C:T p.(Pro124Leu) NC_000001.11:67326740:C:T Identity +NM_003906.5:c.3808G>A NP_003897.2:p.Val1270Met NC_000021.9:46256912:C:T p.(Val1270Met) NC_000021.9:46256912:C:T p.(Val1270Met) NC_000021.9:46256912:C:T Identity +NM_015909.4:c.851A>G NP_056993.2:p.Lys284Arg NC_000002.12:15511245:T:C p.(Lys284Arg) NC_000002.12:15511245:T:C p.(Lys284Arg) NC_000002.12:15511245:T:C Identity +NM_000368.5:c.2247G>T NP_000359.1:p.Met749Ile NC_000009.12:132902748:C:A p.(Met749Ile) NC_000009.12:132902748:C:A p.(Met749Ile) NC_000009.12:132902748:C:A Identity +NM_001079846.1:c.2065A>G NP_001073315.1:p.Met689Val NC_000016.10:3774672:T:C p.(Met689Val) NC_000016.10:3774672:T:C p.(Met689Val) NC_000016.10:3774672:T:C Identity +NM_006739.4:c.1807C>T NP_006730.2:p.Arg603Cys NC_000022.11:35419986:C:T p.(Arg603Cys) NC_000022.11:35419986:C:T p.(Arg603Cys) NC_000022.11:35419986:C:T Identity +NM_001077186.2:c.161G>A NP_001070654.1:p.Arg54His NC_000019.10:50210525:G:A p.(Arg54His) NC_000019.10:50210525:G:A p.(Arg54His) NC_000019.10:50210525:G:A Identity +NM_002470.4:c.166C>T NP_002461.2:p.Gln56Ter NC_000017.11:10654898:G:A p.(Gln56Ter) NC_000017.11:10654898:G:A p.(Gln56Ter) NC_000017.11:10654898:G:A Identity +NM_001145412.3:c.589G>T NP_001138884.1:p.Val197Phe NC_000002.12:177231965:C:A p.(Val197Phe) NC_000002.12:177231965:C:A p.(Val197Phe) NC_000002.12:177231965:C:A Identity +NM_001206524.2:c.1186T>A NP_001193453.1:p.Cys396Ser NC_000002.12:201209533:T:A p.(Cys396Ser) NC_000002.12:201209533:T:A p.(Cys396Ser) NC_000002.12:201209533:T:A Identity +NM_000068.4:c.5234G>A NP_000059.3:p.Arg1745Gln NC_000019.10:13234953:C:T p.(Arg1745Gln) NC_000019.10:13234953:C:T p.(Arg1745Gln) NC_000019.10:13234953:C:T Identity +NM_019098.5:c.2257A>G NP_061971.3:p.Arg753Gly NC_000008.11:86575976:T:C p.(Arg753Gly) NC_000008.11:86575976:T:C p.(Arg753Gly) NC_000008.11:86575976:T:C Identity +NM_014845.6:c.156del NP_055660.1:p.Ile52fs NC_000006.12:109715165:TT:T p.(Ile52MetfsTer12) NC_000006.12:109715165:TT:T p.(Ile52MetfsTer12) NC_000006.12:109715166:T: Analogous +NM_005560.6:c.5518G>A NP_005551.3:p.Asp1840Asn NC_000020.11:62325326:C:T p.(Asp1840Asn) NC_000020.11:62325326:C:T p.(Asp1840Asn) NC_000020.11:62325326:C:T Identity +NM_173630.4:c.1940G>A NP_775901.3:p.Gly647Asp NC_000018.10:70150722:C:T p.(Gly647Asp) NC_000018.10:70150722:C:T p.(Gly647Asp) NC_000018.10:70150722:C:T Identity +NM_000718.4:c.1289A>G NP_000709.1:p.His430Arg NC_000009.12:137957642:A:G p.(His430Arg) NC_000009.12:137957642:A:G p.(His430Arg) NC_000009.12:137957642:A:G Identity +NM_031935.3:c.10981C>T NP_114141.2:p.Arg3661Trp NC_000001.11:186108588:C:T p.(Arg3661Trp) NC_000001.11:186108588:C:T p.(Arg3661Trp) NC_000001.11:186108588:C:T Identity +NM_003036.4:c.1208A>C NP_003027.1:p.Asp403Ala NC_000001.11:2303396:A:C p.(Asp403Ala) NC_000001.11:2303396:A:C p.(Asp403Ala) NC_000001.11:2303396:A:C Identity +NM_016180.5:c.1463T>C NP_057264.4:p.Ile488Thr NC_000005.10:33944777:A:G p.(Ile488Thr) NC_000005.10:33944777:A:G p.(Ile488Thr) NC_000005.10:33944777:A:G Identity +NM_003737.4:c.8894G>A NP_003728.1:p.Ser2965Asn NC_000011.10:6622781:C:T p.(Ser2965Asn) NC_000011.10:6622781:C:T p.(Ser2965Asn) NC_000011.10:6622781:C:T Identity +NM_001287489.2:c.2266C>A NP_001274418.1:p.Pro756Thr NC_000002.12:26477697:G:T p.(Pro756Thr) NC_000002.12:26477697:G:T p.(Pro756Thr) NC_000002.12:26477697:G:T Identity +NM_000048.4:c.302G>A NP_000039.2:p.Gly101Asp NC_000007.14:66082889:G:A p.(Gly101Asp) NC_000007.14:66082889:G:A p.(Gly101Asp) NC_000007.14:66082889:G:A Identity +NM_001184985.2:c.7547A>G NP_001171914.1:p.Asn2516Ser NC_000012.12:907969:A:G p.(Asn2516Ser) NC_000012.12:907969:A:G p.(Asn2516Ser) NC_000012.12:907969:A:G Identity +NM_005502.4:c.6521A>C NP_005493.2:p.Asn2174Thr NC_000009.12:104785519:T:G p.(Asn2174Thr) NC_000009.12:104785519:T:G p.(Asn2174Thr) NC_000009.12:104785519:T:G Identity +NM_001372.4:c.10810G>A NP_001363.2:p.Asp3604Asn NC_000017.11:11883588:G:A p.(Asp3604Asn) NC_000017.11:11883588:G:A p.(Asp3604Asn) NC_000017.11:11883588:G:A Identity +NM_001077182.3:c.712C>T NP_001070650.1:p.Leu238Phe NC_000017.11:81529242:C:T p.(Leu238Phe) NC_000017.11:81529242:C:T p.(Leu238Phe) NC_000017.11:81529242:C:T Identity +NM_006231.4:c.4762C>G NP_006222.2:p.Gln1588Glu NC_000012.12:132642695:G:C p.(Gln1588Glu) NC_000012.12:132642695:G:C p.(Gln1588Glu) NC_000012.12:132642695:G:C Identity +NM_031935.3:c.8549C>T NP_114141.2:p.Ala2850Val NC_000001.11:186078169:C:T p.(Ala2850Val) NC_000001.11:186078169:C:T p.(Ala2850Val) NC_000001.11:186078169:C:T Identity +NM_003850.3:c.86C>A NP_003841.1:p.Ala29Asp NC_000013.11:48001183:G:T p.(Ala29Asp) NC_000013.11:48001183:G:T p.(Ala29Asp) NC_000013.11:48001183:G:T Identity +NM_001286834.3:c.136A>G NP_001273763.1:p.Arg46Gly NC_000002.12:3556818:T:C p.(Arg46Gly) NC_000002.12:3556818:T:C p.(Arg46Gly) NC_000002.12:3556818:T:C Identity +NM_002661.5:c.770A>G NP_002652.2:p.His257Arg NC_000016.10:81889175:A:G p.(His257Arg) NC_000016.10:81889175:A:G p.(His257Arg) NC_000016.10:81889175:A:G Identity +NM_001195794.1:c.400C>G NP_001182723.1:p.Pro134Ala NC_000003.12:150941614:G:C p.(Pro134Ala) NC_000003.12:150941614:G:C p.(Pro134Ala) NC_000003.12:150941614:G:C Identity +NM_001346813.1:c.5542C>T NP_001333742.1:p.Arg1848Cys NC_000006.12:157206562:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001172416.1:c.26T>C NP_001165887.1:p.Ile9Thr NC_000002.12:232771336:A:G p.(Ile9Thr) NC_000002.12:232771336:A:G p.(Ile9Thr) NC_000002.12:232771336:A:G Identity +NM_004523.4:c.1562A>T NP_004514.2:p.Lys521Met NC_000010.11:92632552:A:T p.(Lys521Met) NC_000010.11:92632552:A:T p.(Lys521Met) NC_000010.11:92632552:A:T Identity +NM_025114.4:c.3785A>T NP_079390.3:p.His1262Leu NC_000012.12:88089275:T:A p.(His1262Leu) NC_000012.12:88089275:T:A p.(His1262Leu) NC_000012.12:88089275:T:A Identity +NM_015346.4:c.6816T>G NP_056161.2:p.Ile2272Met NC_000014.9:67755220:A:C p.(Ile2272Met) NC_000014.9:67755220:A:C p.(Ile2272Met) NC_000014.9:67755220:A:C Identity +NM_000392.5:c.1648T>G NP_000383.2:p.Phe550Val NC_000010.11:99807500:T:G p.(Phe550Val) NC_000010.11:99807500:T:G p.(Phe550Val) NC_000010.11:99807500:T:G Identity +NM_001312673.2:c.776A>G NP_001299602.1:p.Lys259Arg NC_000003.12:196239667:T:C p.(Lys259Arg) NC_000003.12:196239667:T:C p.(Lys259Arg) NC_000003.12:196239667:T:C Identity +NM_001282279.2:c.854C>T NP_001269208.1:p.Ala285Val NC_000017.11:81933226:G:A p.(Ala285Val) NC_000017.11:81933226:G:A p.(Ala285Val) NC_000017.11:81933226:G:A Identity +NM_001114182.3:c.232A>G NP_001107654.1:p.Asn78Asp NC_000012.12:43771289:A:G p.(Asn78Asp) NC_000012.12:43771289:A:G p.(Asn78Asp) NC_000012.12:43771289:A:G Identity +NM_000720.4:c.5381T>A NP_000711.1:p.Ile1794Asn NC_000003.12:53801337:T:A p.(Ile1794Asn) NC_000003.12:53801337:T:A p.(Ile1794Asn) NC_000003.12:53801337:T:A Identity +NM_001167749.3:c.3619G>A NP_001161221.1:p.Gly1207Arg NC_000001.11:167823097:C:T p.(Gly1207Arg) NC_000001.11:167823097:C:T p.(Gly1207Arg) NC_000001.11:167823097:C:T Identity +NM_001284351.3:c.734T>C NP_001271280.1:p.Val245Ala NC_000005.10:485172:A:G p.(Val245Ala) NC_000005.10:485172:A:G p.(Val245Ala) NC_000005.10:485172:A:G Identity +NM_032340.4:c.113C>T NP_115716.1:p.Ala38Val NC_000006.12:33711573:G:A p.(Ala38Val) NC_000006.12:33711573:G:A p.(Ala38Val) NC_000006.12:33711573:G:A Identity +NM_001363656.2:c.58G>A NP_001350585.1:p.Asp20Asn NC_000019.10:52212776:G:A p.(Asp20Asn) NC_000019.10:52212776:G:A p.(Asp20Asn) NC_000019.10:52212776:G:A Identity +NM_001128602.2:c.1028C>T NP_001122074.1:p.Ala343Val NC_000015.10:38507939:G:A p.(Ala343Val) NC_000015.10:38507939:G:A p.(Ala343Val) NC_000015.10:38507939:G:A Identity +NM_001318245.2:c.6404C>T NP_001305174.1:p.Ser2135Phe NC_000022.11:26004785:C:T p.(Ser2135Phe) NC_000022.11:26004785:C:T p.(Ser2135Phe) NC_000022.11:26004785:C:T Identity +NM_001160147.2:c.442C>G NP_001153619.1:p.Leu148Val NC_000014.9:53152656:G:C p.(Leu148Val) NC_000014.9:53152656:G:C p.(Leu148Val) NC_000014.9:53152656:G:C Identity +NM_001033053.3:c.1321G>A NP_001028225.1:p.Gly441Ser NC_000017.11:5559374:C:T p.(Gly441Ser) NC_000017.11:5559374:C:T p.(Gly441Ser) NC_000017.11:5559374:C:T Identity +NM_001178075.2:c.912T>G NP_001171546.1:p.Asp304Glu NC_000007.14:97856744:A:C p.(Asp304Glu) NC_000007.14:97856744:A:C p.(Asp304Glu) NC_000007.14:97856744:A:C Identity +NM_001310338.2:c.934G>A NP_001297267.1:p.Ala312Thr NC_000020.11:17989962:G:A p.(Ala312Thr) NC_000020.11:17989962:G:A p.(Ala312Thr) NC_000020.11:17989962:G:A Identity +NM_032119.4:c.4693A>G NP_115495.3:p.Ile1565Val NC_000005.10:90658218:A:G p.(Ile1565Val) NC_000005.10:90658218:A:G p.(Ile1565Val) NC_000005.10:90658218:A:G Identity +NM_001252020.2:c.4212T>A NP_001238949.1:p.Asp1404Glu NC_000015.10:31002538:A:T p.(Asp1404Glu) NC_000015.10:31002538:A:T p.(Asp1404Glu) NC_000015.10:31002538:A:T Identity +NM_139057.4:c.1041C>G NP_620688.2:p.Phe347Leu NC_000015.10:100254169:G:C p.(Phe347Leu) NC_000015.10:100254169:G:C p.(Phe347Leu) NC_000015.10:100254169:G:C Identity +NM_015072.5:c.895A>G NP_055887.3:p.Met299Val NC_000014.9:75719786:A:G p.(Met299Val) NC_000014.9:75719786:A:G p.(Met299Val) NC_000014.9:75719786:A:G Identity +NM_022095.4:c.998G>A NP_071378.1:p.Arg333Gln NC_000020.11:45965731:C:T p.(Arg333Gln) NC_000020.11:45965731:C:T p.(Arg333Gln) NC_000020.11:45965731:C:T Identity +NM_001110556.2:c.3737A>C NP_001104026.1:p.Lys1246Thr NC_000023.11:154360057:T:G p.(Lys1246Thr) NC_000023.11:154360057:T:G p.(Lys1246Thr) NC_000023.11:154360057:T:G Identity +NM_001367830.1:c.157C>A NP_001354759.1:p.Pro53Thr NC_000019.10:11252933:G:T p.(Pro53Thr) NC_000019.10:11252933:G:T p.(Pro53Thr) NC_000019.10:11252933:G:T Identity +NM_000587.4:c.1589G>A NP_000578.2:p.Gly530Glu NC_000005.10:40959547:G:A p.(Gly530Glu) NC_000005.10:40959547:G:A p.(Gly530Glu) NC_000005.10:40959547:G:A Identity +NM_001351126.2:c.1597G>A NP_001338055.1:p.Gly533Arg NC_000012.12:7209829:G:A p.(Gly533Arg) NC_000012.12:7209829:G:A p.(Gly533Arg) NC_000012.12:7209829:G:A Identity +NM_001168407.2:c.1294G>A NP_001161879.1:p.Gly432Ser NC_000006.12:72258228:G:A p.(Gly432Ser) NC_000006.12:72258228:G:A p.(Gly432Ser) NC_000006.12:72258228:G:A Identity +NM_001410805.1:c.386G>T NP_001397734.1:p.Gly129Val NC_000003.12:128899407:G:T p.(Gly129Val) NC_000003.12:128899407:G:T p.(Gly129Val) NC_000003.12:128899407:G:T Identity +NM_000124.4:c.3077G>A NP_000115.1:p.Gly1026Glu NC_000010.11:49470882:C:T p.(Gly1026Glu) NC_000010.11:49470882:C:T p.(Gly1026Glu) NC_000010.11:49470882:C:T Identity +NM_001010895.4:c.44A>G NP_001010895.2:p.Lys15Arg NC_000009.12:95876081:A:G p.(Lys15Arg) NC_000009.12:95876081:A:G p.(Lys15Arg) NC_000009.12:95876081:A:G Identity +NM_000232.5:c.819T>G NP_000223.1:p.Ser273Arg NC_000004.12:52024094:A:C p.(Ser273Arg) NC_000004.12:52024094:A:C p.(Ser273Arg) NC_000004.12:52024094:A:C Identity +NM_001039847.3:c.600T>C NP_001034936.1:p.Pro200= NC_000019.10:1106555:T:C p.(Pro200=) NC_000019.10:1106555:T:C p.? NC_000019.10:1106555:T:C Identity +NM_031935.3:c.3491A>G NP_114141.2:p.Lys1164Arg NC_000001.11:185993294:A:G p.(Lys1164Arg) NC_000001.11:185993294:A:G p.(Lys1164Arg) NC_000001.11:185993294:A:G Identity +NM_001278055.2:c.9652C>G NP_001264984.1:p.Leu3218Val NC_000013.11:23333782:G:C p.(Leu3218Val) NC_000013.11:23333782:G:C p.(Leu3218Val) NC_000013.11:23333782:G:C Identity +NM_001114978.2:c.865C>T NP_001108450.1:p.Pro289Ser NC_000003.12:189866779:C:T p.(Pro289Ser) NC_000003.12:189866779:C:T p.(Pro289Ser) NC_000003.12:189866779:C:T Identity +NM_001291902.2:c.293C>G NP_001278831.1:p.Ala98Gly NC_000011.10:68406757:C:G p.(Ala98Gly) NC_000011.10:68406757:C:G p.(Ala98Gly) NC_000011.10:68406757:C:G Identity +NM_001321431.2:c.8252G>C NP_001308360.1:p.Arg2751Pro NC_000019.10:8066096:C:G p.(Arg2751Pro) NC_000019.10:8066096:C:G p.(Arg2751Pro) NC_000019.10:8066096:C:G Identity +NM_001291285.3:c.587A>T NP_001278214.1:p.Glu196Val NC_000004.12:125316997:A:T p.(Glu196Val) NC_000004.12:125316997:A:T p.(Glu196Val) NC_000004.12:125316997:A:T Identity +NM_001411087.1:c.1105G>T NP_001398016.1:p.Val369Phe NC_000019.10:45032655:G:T p.(Val369Phe) NC_000019.10:45032655:G:T p.(Val369Phe) NC_000019.10:45032655:G:T Identity +NM_001005407.2:c.1318C>T NP_001005407.1:p.His440Tyr NC_000016.10:1201767:C:T p.(His440Tyr) NC_000016.10:1201767:C:T p.(His440Tyr) NC_000016.10:1201767:C:T Identity +NM_001077182.3:c.1532C>A NP_001070650.1:p.Thr511Asn NC_000017.11:81537060:C:A p.(Thr511Asn) NC_000017.11:81537060:C:A p.(Thr511Asn) NC_000017.11:81537060:C:A Identity +NM_001258205.2:c.1706T>C NP_001245134.1:p.Phe569Ser NC_000017.11:3524234:A:G p.(Phe569Ser) NC_000017.11:3524234:A:G p.(Phe569Ser) NC_000017.11:3524234:A:G Identity +NM_014239.4:c.691A>C NP_055054.1:p.Lys231Gln NC_000014.9:75005958:A:C p.(Lys231Gln) NC_000014.9:75005958:A:C p.(Lys231Gln) NC_000014.9:75005958:A:C Identity +NM_001291860.2:c.2471G>A NP_001278789.1:p.Arg824His NC_000001.11:21878996:C:T p.(Arg824His) NC_000001.11:21878996:C:T p.(Arg824His) NC_000001.11:21878996:C:T Identity +NM_080476.5:c.482C>T NP_536724.1:p.Ala161Val NC_000020.11:34634661:G:A p.(Ala161Val) NC_000020.11:34634661:G:A p.(Ala161Val) NC_000020.11:34634661:G:A Identity +NM_001256789.3:c.1936G>C NP_001243718.1:p.Ala646Pro NC_000023.11:49223077:C:G p.(Ala646Pro) NC_000023.11:49223077:C:G p.(Ala646Pro) NC_000023.11:49223077:C:G Identity +NM_001286457.2:c.1754C>T NP_001273386.2:p.Ser585Leu NC_000016.10:8903304:G:A p.(Ser585Leu) NC_000016.10:8903304:G:A p.(Ser585Leu) NC_000016.10:8903304:G:A Identity +NM_032119.4:c.15899C>G NP_115495.3:p.Thr5300Ser NC_000005.10:90811158:C:G p.(Thr5300Ser) NC_000005.10:90811158:C:G p.(Thr5300Ser) NC_000005.10:90811158:C:G Identity +NM_001004334.4:c.4452del NP_001004334.3:p.Asp1484fs NC_000017.11:38329116:A: p.(Asp1484GlufsTer4) NC_000017.11:38329116:A: p.(Asp1484GlufsTer4) NC_000017.11:38329116:A: Analogous +NM_004055.5:c.1241G>A NP_004046.2:p.Arg414His NC_000011.10:77119102:G:A p.(Arg414His) NC_000011.10:77119102:G:A p.(Arg414His) NC_000011.10:77119102:G:A Identity +NM_000702.4:c.1873G>T NP_000693.1:p.Ala625Ser NC_000001.11:160134528:G:T p.(Ala625Ser) NC_000001.11:160134528:G:T p.(Ala625Ser) NC_000001.11:160134528:G:T Identity +NM_001385640.1:c.2324T>G NP_001372569.1:p.Val775Gly NC_000001.11:943938:T:G p.(Val775Gly) NC_000001.11:943938:T:G p.(Val775Gly) NC_000001.11:943938:T:G Identity +NM_032409.3:c.202C>T NP_115785.1:p.Arg68Cys NC_000001.11:20633749:C:T p.(Arg68Cys) NC_000001.11:20633749:C:T p.(Arg68Cys) NC_000001.11:20633749:C:T Identity +NM_001012301.4:c.287C>A NP_001012301.1:p.Ser96Ter NC_000005.10:150302086:G:T p.(Ser96Ter) NC_000005.10:150302086:G:T p.(Ser96Ter) NC_000005.10:150302086:G:T Identity +NM_001130455.2:c.5579G>A NP_001123927.1:p.Arg1860His NC_000002.12:71669654:G:A p.(Arg1860His) NC_000002.12:71669654:G:A p.(Arg1860His) NC_000002.12:71669654:G:A Identity +NM_001286216.2:c.1345G>C NP_001273145.1:p.Val449Leu NC_000006.12:43622025:C:G p.(Val449Leu) NC_000006.12:43622025:C:G p.(Val449Leu) NC_000006.12:43622025:C:G Identity +NM_001257096.2:c.829G>A NP_001244025.1:p.Ala277Thr NC_000020.11:21706979:G:A p.(Ala277Thr) NC_000020.11:21706979:G:A p.(Ala277Thr) NC_000020.11:21706979:G:A Identity +NM_004525.3:c.2929C>T NP_004516.2:p.Pro977Ser NC_000002.12:169246965:G:A p.(Pro977Ser) NC_000002.12:169246965:G:A p.(Pro977Ser) NC_000002.12:169246965:G:A Identity +NM_004423.4:c.1061G>A NP_004414.3:p.Arg354Gln NC_000003.12:184166837:G:A p.(Arg354Gln) NC_000003.12:184166837:G:A p.(Arg354Gln) NC_000003.12:184166837:G:A Identity +NM_006059.4:c.943C>T NP_006050.3:p.Arg315Trp NC_000009.12:131036298:C:T p.(Arg315Trp) NC_000009.12:131036298:C:T p.(Arg315Trp) NC_000009.12:131036298:C:T Identity +NM_020457.3:c.38A>G NP_065190.2:p.Asn13Ser NC_000016.10:67842591:A:G p.(Asn13Ser) NC_000016.10:67842591:A:G p.(Asn13Ser) NC_000016.10:67842591:A:G Identity +NM_000092.5:c.416G>A NP_000083.3:p.Ser139Asn NC_000002.12:227118717:C:T p.(Ser139Asn) NC_000002.12:227118717:C:T p.(Ser139Asn) NC_000002.12:227118717:C:T Identity +NM_001077397.1:c.1372G>A NP_001070865.1:p.Val458Met NC_000001.11:234607480:C:T p.(Val458Met) NC_000001.11:234607480:C:T p.(Val458Met) NC_000001.11:234607480:C:T Identity +NM_021625.5:c.1616G>T NP_067638.3:p.Gly539Val NC_000012.12:109793568:C:A p.(Gly539Val) NC_000012.12:109793568:C:A p.(Gly539Val) NC_000012.12:109793568:C:A Identity +NM_001172695.2:c.320T>C NP_001166166.1:p.Ile107Thr NC_000012.12:57786250:T:C p.(Ile107Thr) NC_000012.12:57786250:T:C p.(Ile107Thr) NC_000012.12:57786250:T:C Identity +NM_001321214.2:c.547C>G NP_001308143.1:p.Pro183Ala NC_000017.11:19343475:G:C p.(Pro183Ala) NC_000017.11:19343475:G:C p.(Pro183Ala) NC_000017.11:19343475:G:C Identity +NM_015657.4:c.3140A>G NP_056472.2:p.Asn1047Ser NC_000002.12:214986610:T:C p.(Asn1047Ser) NC_000002.12:214986610:T:C p.(Asn1047Ser) NC_000002.12:214986610:T:C Identity +NM_001291593.2:c.896G>A NP_001278522.1:p.Gly299Asp NC_000001.11:5887335:C:T p.(Gly299Asp) NC_000001.11:5887335:C:T p.(Gly299Asp) NC_000001.11:5887335:C:T Identity +NM_170606.3:c.12128C>T NP_733751.2:p.Thr4043Ile NC_000007.14:152154277:G:A p.(Thr4043Ile) NC_000007.14:152154277:G:A p.(Thr4043Ile) NC_000007.14:152154277:G:A Identity +NM_018109.4:c.456G>C NP_060579.3:p.Lys152Asn NC_000010.11:30340324:C:G p.(Lys152Asn) NC_000010.11:30340324:C:G p.(Lys152Asn) NC_000010.11:30340324:C:G Identity +NM_001038633.4:c.464C>T NP_001033722.1:p.Pro155Leu NC_000001.11:37613864:G:A p.(Pro155Leu) NC_000001.11:37613864:G:A p.(Pro155Leu) NC_000001.11:37613864:G:A Identity +NM_005502.4:c.3497G>C NP_005493.2:p.Gly1166Ala NC_000009.12:104817369:C:G p.(Gly1166Ala) NC_000009.12:104817369:C:G p.(Gly1166Ala) NC_000009.12:104817369:C:G Identity +NM_000562.3:c.88C>G NP_000553.1:p.Arg30Gly NC_000001.11:56867618:C:G p.(Arg30Gly) NC_000001.11:56867618:C:G p.(Arg30Gly) NC_000001.11:56867618:C:G Identity +NM_001077269.1:c.1426C>A NP_001070737.1:p.Pro476Thr NC_000002.12:174567099:G:T p.(Pro476Thr) NC_000002.12:174567099:G:T p.(Pro476Thr) NC_000002.12:174567099:G:T Identity +NM_014639.4:c.3283G>C NP_055454.1:p.Ala1095Pro NC_000005.10:95502937:C:G p.(Ala1095Pro) NC_000005.10:95502937:C:G p.(Ala1095Pro) NC_000005.10:95502937:C:G Identity +NM_000089.4:c.1562C>T NP_000080.2:p.Ala521Val NC_000007.14:94413693:C:T p.(Ala521Val) NC_000007.14:94413693:C:T p.(Ala521Val) NC_000007.14:94413693:C:T Identity +NM_007254.4:c.176C>T NP_009185.2:p.Thr59Ile NC_000019.10:49866420:G:A p.(Thr59Ile) NC_000019.10:49866420:G:A p.(Thr59Ile) NC_000019.10:49866420:G:A Identity +NM_203288.2:c.107G>A NP_976033.1:p.Arg36Gln NC_000007.14:33109265:C:T p.(Arg36Gln) NC_000007.14:33109265:C:T p.(Arg36Gln) NC_000007.14:33109265:C:T Identity +NM_001252043.2:c.299C>T NP_001238972.1:p.Thr100Met NC_000016.10:29978345:C:T p.(Thr100Met) NC_000016.10:29978345:C:T p.(Thr100Met) NC_000016.10:29978345:C:T Identity +NM_001354262.2:c.94G>A NP_001341191.1:p.Gly32Arg NC_000004.12:113174487:G:A p.(Gly32Arg) NC_000004.12:113174487:G:A p.(Gly32Arg) NC_000004.12:113174487:G:A Identity +NM_001271427.2:c.2078T>C NP_001258356.1:p.Leu693Pro NC_000001.11:19227433:A:G p.(Leu693Pro) NC_000001.11:19227433:A:G p.(Leu693Pro) NC_000001.11:19227433:A:G Identity +NM_001326606.2:c.357G>C NP_001313535.1:p.Lys119Asn NC_000007.14:6017947:G:C p.(Lys119Asn) NC_000007.14:6017947:G:C p.(Lys119Asn) NC_000007.14:6017947:G:C Identity +NM_004281.4:c.1334A>G NP_004272.2:p.Lys445Arg NC_000010.11:119676887:A:G p.(Lys445Arg) NC_000010.11:119676887:A:G p.(Lys445Arg) NC_000010.11:119676887:A:G Identity +NM_000038.6:c.6764C>T NP_000029.2:p.Thr2255Ile NC_000005.10:112842357:C:T p.(Thr2255Ile) NC_000005.10:112842357:C:T p.(Thr2255Ile) NC_000005.10:112842357:C:T Identity +NM_021620.4:c.467T>G NP_067633.2:p.Leu156Arg NC_000006.12:99613101:T:G p.(Leu156Arg) NC_000006.12:99613101:T:G p.(Leu156Arg) NC_000006.12:99613101:T:G Identity +NM_015202.5:c.1509G>C NP_056017.4:p.Leu503Phe NC_000016.10:27708823:G:C p.(Leu503Phe) NC_000016.10:27708823:G:C p.(Leu503Phe) NC_000016.10:27708823:G:C Identity +NM_001130144.3:c.448G>A NP_001123616.1:p.Gly150Ser NC_000011.10:65554263:C:T p.(Gly150Ser) NC_000011.10:65554263:C:T p.(Gly150Ser) NC_000011.10:65554263:C:T Identity +NM_000180.4:c.1780C>T NP_000171.1:p.Leu594Phe NC_000017.11:8012173:C:T p.(Leu594Phe) NC_000017.11:8012173:C:T p.(Leu594Phe) NC_000017.11:8012173:C:T Identity +NM_000718.4:c.1024A>G NP_000709.1:p.Ile342Val NC_000009.12:137952330:A:G p.(Ile342Val) NC_000009.12:137952330:A:G p.(Ile342Val) NC_000009.12:137952330:A:G Identity +NM_001199981.2:c.1142_1143delinsAG NP_001186910.1:p.Arg381Lys NC_000002.12:206141951:TC:CT p.(Arg381Lys) NC_000002.12:206141951:TC:CT p.(Arg381Lys) NC_000002.12:206141951:TC:CT Identity +NM_001289123.2:c.526G>C NP_001276052.1:p.Glu176Gln NC_000019.10:6496125:C:G p.(Glu176Gln) NC_000019.10:6496125:C:G p.(Glu176Gln) NC_000019.10:6496125:C:G Identity +NM_003489.4:c.2086C>T NP_003480.2:p.Pro696Ser NC_000021.9:14966106:G:A p.(Pro696Ser) NC_000021.9:14966106:G:A p.(Pro696Ser) NC_000021.9:14966106:G:A Identity +NM_001164317.2:c.3304A>T NP_001157789.1:p.Thr1102Ser NC_000003.12:58123269:A:T p.(Thr1102Ser) NC_000003.12:58123269:A:T p.(Thr1102Ser) NC_000003.12:58123269:A:T Identity +NM_001184751.2:c.1063C>A NP_001171680.1:p.Leu355Ile NC_000011.10:46704786:C:A p.(Leu355Ile) NC_000011.10:46704786:C:A p.(Leu355Ile) NC_000011.10:46704786:C:A Identity +NM_001413017.1:c.661A>T NP_001399946.1:p.Ile221Phe NC_000008.11:144516457:T:A p.(Ile221Phe) NC_000008.11:144516457:T:A p.(Ile221Phe) NC_000008.11:144516457:T:A Identity +NM_001008211.1:c.254T>G NP_001008212.1:p.Phe85Cys NC_000010.11:13110360:T:G p.(Phe85Cys) NC_000010.11:13110360:T:G p.(Phe85Cys) NC_000010.11:13110360:T:G Identity +NM_018109.4:c.47C>G NP_060579.3:p.Ala16Gly NC_000010.11:30349228:G:C p.(Ala16Gly) NC_000010.11:30349228:G:C p.(Ala16Gly) NC_000010.11:30349228:G:C Identity +NM_001080414.4:c.4879G>A NP_001073883.2:p.Ala1627Thr NC_000014.9:91278100:C:T p.(Ala1627Thr) NC_000014.9:91278100:C:T p.(Ala1627Thr) NC_000014.9:91278100:C:T Identity +NM_000487.6:c.1171G>C NP_000478.3:p.Val391Leu NC_000022.11:50625617:C:G p.(Val391Leu) NC_000022.11:50625617:C:G p.(Val391Leu) NC_000022.11:50625617:C:G Identity +NM_001364858.1:c.1611dup NP_001351787.1:p.Pro538fs NC_000007.14:4790812:T:TT p.(Pro538SerfsTer69) NC_000007.14:4790812:T:TT p.(Pro538SerfsTer69) ERR:SPDI Analogous +NM_001301031.1:c.361A>G NP_001287960.1:p.Met121Val NC_000015.10:65624440:A:G p.(Met121Val) NC_000015.10:65624440:A:G p.(Met121Val) NC_000015.10:65624440:A:G Identity +NM_017947.4:c.2260C>G NP_060417.4:p.Leu754Val NC_000018.10:36257062:C:G p.(Leu754Val) NC_000018.10:36257062:C:G p.(Leu754Val) NC_000018.10:36257062:C:G Identity +NM_001406795.1:c.3898G>A NP_001393724.1:p.Ala1300Thr NC_000002.12:47806451:G:A p.(Ala1300Thr) NC_000002.12:47806451:G:A p.(Ala1300Thr) NC_000002.12:47806451:G:A Identity +NM_001303052.2:c.1412G>A NP_001289981.1:p.Arg471Lys NC_000002.12:1922356:C:T p.(Arg471Lys) NC_000002.12:1922356:C:T p.(Arg471Lys) NC_000002.12:1922356:C:T Identity +NM_014510.3:c.3841G>T NP_055325.2:p.Ala1281Ser NC_000007.14:82965946:C:A p.(Ala1281Ser) NC_000007.14:82965946:C:A p.(Ala1281Ser) NC_000007.14:82965946:C:A Identity +NM_003901.4:c.746C>A NP_003892.2:p.Ala249Asp NC_000010.11:70869832:C:A p.(Ala249Asp) NC_000010.11:70869832:C:A p.(Ala249Asp) NC_000010.11:70869832:C:A Identity +NM_000088.4:c.721C>T NP_000079.2:p.Pro241Ser NC_000017.11:50197208:G:A p.(Pro241Ser) NC_000017.11:50197208:G:A p.(Pro241Ser) NC_000017.11:50197208:G:A Identity +NM_001407296.1:c.1772A>G NP_001394225.1:p.Asp591Gly NC_000016.10:23630321:T:C p.(Asp591Gly) NC_000016.10:23630321:T:C p.(Asp591Gly) NC_000016.10:23630321:T:C Identity +NM_001166280.2:c.1955T>C NP_001159752.1:p.Val652Ala NC_000009.12:110800590:T:C p.(Val652Ala) NC_000009.12:110800590:T:C p.(Val652Ala) NC_000009.12:110800590:T:C Identity +NM_000481.4:c.928C>T NP_000472.2:p.Pro310Ser NC_000003.12:49417922:G:A p.(Pro310Ser) NC_000003.12:49417922:G:A p.(Pro310Ser) NC_000003.12:49417922:G:A Identity +NM_001166111.2:c.3604C>T NP_001159583.1:p.Arg1202Cys NC_000019.10:7559025:C:T p.(Arg1202Cys) NC_000019.10:7559025:C:T p.(Arg1202Cys) NC_000019.10:7559025:C:T Identity +NM_001282237.2:c.1783G>A NP_001269166.1:p.Gly595Ser NC_000014.9:99175049:C:T p.(Gly595Ser) NC_000014.9:99175049:C:T p.(Gly595Ser) NC_000014.9:99175049:C:T Identity +NM_001029883.3:c.1052G>A NP_001025054.1:p.Gly351Asp NC_000002.12:29073209:C:T p.(Gly351Asp) NC_000002.12:29073209:C:T p.(Gly351Asp) NC_000002.12:29073209:C:T Identity +NM_000618.5:c.133T>C NP_000609.1:p.Ser45Pro NC_000012.12:102475729:A:G p.(Ser45Pro) NC_000012.12:102475729:A:G p.(Ser45Pro) NC_000012.12:102475729:A:G Identity +NM_006192.5:c.1478A>T NP_006183.2:p.Glu493Val NC_000020.11:21714675:A:T p.(Glu493Val) NC_000020.11:21714675:A:T p.(Glu493Val) NC_000020.11:21714675:A:T Identity +NM_001167749.3:c.3940A>G NP_001161221.1:p.Met1314Val NC_000001.11:167818154:T:C p.(Met1314Val) NC_000001.11:167818154:T:C p.(Met1314Val) NC_000001.11:167818154:T:C Identity +NM_001159699.2:c.750C>T NP_001153171.1:p.Gly250= NC_000023.11:136209883:C:T p.(Gly250=) NC_000023.11:136209883:C:T p.(Gly250=) NC_000023.11:136209883:C:T Identity +NM_001320941.2:c.2024A>C NP_001307870.2:p.Asn675Thr NC_000015.10:78497303:A:C p.(Asn675Thr) NC_000015.10:78497303:A:C p.(Asn675Thr) NC_000015.10:78497303:A:C Identity +NM_203288.2:c.312G>T NP_976033.1:p.Gln104His NC_000007.14:33099307:C:A p.(Gln104His) NC_000007.14:33099307:C:A p.(Gln104His) NC_000007.14:33099307:C:A Identity +NM_032119.4:c.15382G>C NP_115495.3:p.Asp5128His NC_000005.10:90810641:G:C p.(Asp5128His) NC_000005.10:90810641:G:C p.(Asp5128His) NC_000005.10:90810641:G:C Identity +NM_000097.7:c.866A>G NP_000088.3:p.Asn289Ser NC_000003.12:98588799:T:C p.(Asn289Ser) NC_000003.12:98588799:T:C p.(Asn289Ser) NC_000003.12:98588799:T:C Identity +NM_001306090.2:c.1648C>G NP_001293019.1:p.Pro550Ala NC_000004.12:5783635:C:G p.(Pro550Ala) NC_000004.12:5783635:C:G p.(Pro550Ala) NC_000004.12:5783635:C:G Identity +NM_007186.6:c.1824G>C NP_009117.2:p.Leu608Phe NC_000020.11:35476555:G:C p.(Leu608Phe) NC_000020.11:35476555:G:C p.(Leu608Phe) NC_000020.11:35476555:G:C Identity +NM_000360.4:c.403G>A NP_000351.2:p.Glu135Lys NC_000011.10:2168574:C:T p.(Glu135Lys) NC_000011.10:2168574:C:T p.(Glu135Lys) NC_000011.10:2168574:C:T Identity +NM_001256324.2:c.2395C>G NP_001243253.1:p.Pro799Ala NC_000017.11:50590563:C:G p.(Pro799Ala) NC_000017.11:50590563:C:G p.(Pro799Ala) NC_000017.11:50590563:C:G Identity +NM_001378454.1:c.820A>T NP_001365383.1:p.Ser274Cys NC_000002.12:73424484:A:T p.(Ser274Cys) NC_000002.12:73424484:A:T p.(Ser274Cys) NC_000002.12:73424484:A:T Identity +NM_000245.4:c.2146A>G NP_000236.2:p.Ile716Val NC_000007.14:116758501:A:G p.(Ile716Val) NC_000007.14:116758501:A:G p.(Ile716Val) NC_000007.14:116758501:A:G Identity +NM_000355.4:c.569A>G NP_000346.2:p.His190Arg NC_000022.11:30614489:A:G p.(His190Arg) NC_000022.11:30614489:A:G p.(His190Arg) NC_000022.11:30614489:A:G Identity +NM_001145337.3:c.1142C>G NP_001138809.1:p.Ser381Cys NC_000012.12:68839655:C:G p.(Ser381Cys) NC_000012.12:68839655:C:G p.(Ser381Cys) NC_000012.12:68839655:C:G Identity +NM_001190.4:c.176A>G NP_001181.2:p.Lys59Arg NC_000019.10:48806640:T:C p.(Lys59Arg) NC_000019.10:48806640:T:C p.(Lys59Arg) NC_000019.10:48806640:T:C Identity +NM_020699.4:c.349G>A NP_065750.1:p.Gly117Arg NC_000001.11:153819721:C:T p.(Gly117Arg) NC_000001.11:153819721:C:T p.(Gly117Arg) NC_000001.11:153819721:C:T Identity +NM_001170629.2:c.7337C>T NP_001164100.1:p.Thr2446Met NC_000014.9:21386021:G:A p.(Thr2446Met) NC_000014.9:21386021:G:A p.(Thr2446Met) NC_000014.9:21386021:G:A Identity +NM_001134774.2:c.589C>G NP_001128246.1:p.Leu197Val NC_000011.10:66263726:C:G p.(Leu197Val) NC_000011.10:66263726:C:G p.(Leu197Val) NC_000011.10:66263726:C:G Identity +NM_000553.6:c.3547A>T NP_000544.2:p.Ile1183Leu NC_000008.11:31147450:A:T p.(Ile1183Leu) NC_000008.11:31147450:A:T p.(Ile1183Leu) NC_000008.11:31147450:A:T Identity +NM_000135.4:c.4182A>G NP_000126.2:p.Glu1394= NC_000016.10:89738959:T:C p.(Glu1394=) NC_000016.10:89738959:T:C p.(Glu1394=) NC_000016.10:89738959:T:C Identity +NM_015909.4:c.4420C>T NP_056993.2:p.Pro1474Ser NC_000002.12:15328239:G:A p.(Pro1474Ser) NC_000002.12:15328239:G:A p.(Pro1474Ser) NC_000002.12:15328239:G:A Identity +NM_000396.4:c.818del NP_000387.1:p.Asn273fs NC_000001.11:150799239:TT:T p.(Asn273IlefsTer2) NC_000001.11:150799239:TT:T p.(Asn273IlefsTer2) NC_000001.11:150799239:T: Analogous +NM_004415.4:c.4360G>A NP_004406.2:p.Val1454Ile NC_000006.12:7580549:G:A p.(Val1454Ile) NC_000006.12:7580549:G:A p.(Val1454Ile) NC_000006.12:7580549:G:A Identity +NM_000538.4:c.290A>T NP_000529.1:p.Asp97Val NC_000013.11:36819646:A:T p.(Asp97Val) NC_000013.11:36819646:A:T p.(Asp97Val) NC_000013.11:36819646:A:T Identity +NM_014804.3:c.629T>G NP_055619.2:p.Ile210Arg NC_000017.11:6628205:A:C p.(Ile210Arg) NC_000017.11:6628205:A:C p.(Ile210Arg) NC_000017.11:6628205:A:C Identity +NM_001127178.3:c.2113C>G NP_001120650.1:p.Leu705Val NC_000004.12:527081:C:G p.(Leu705Val) NC_000004.12:527081:C:G p.(Leu705Val) NC_000004.12:527081:C:G Identity +NM_032228.6:c.160G>C NP_115604.1:p.Glu54Gln NC_000011.10:13694924:G:C p.(Glu54Gln) NC_000011.10:13694924:G:C p.(Glu54Gln) NC_000011.10:13694924:G:C Identity +NM_001178102.2:c.274A>C NP_001171573.1:p.Ser92Arg NC_000005.10:122074083:T:G p.(Ser92Arg) NC_000005.10:122074083:T:G p.(Ser92Arg) NC_000005.10:122074083:T:G Identity +NM_001244189.2:c.4605G>A NP_001231118.1:p.Met1535Ile NC_000014.9:58540086:G:A p.(Met1535Ile) NC_000014.9:58540086:G:A p.(Met1535Ile) NC_000014.9:58540086:G:A Identity +NM_000687.4:c.457A>G NP_000678.1:p.Ile153Val NC_000020.11:34291519:T:C p.(Ile153Val) NC_000020.11:34291519:T:C p.(Ile153Val) NC_000020.11:34291519:T:C Identity +NM_001164665.2:c.1466C>G NP_001158137.1:p.Pro489Arg NC_000007.14:138918159:G:C p.(Pro489Arg) NC_000007.14:138918159:G:C p.(Pro489Arg) NC_000007.14:138918159:G:C Identity +NM_015073.3:c.4490G>A NP_055888.1:p.Arg1497Gln NC_000019.10:38192203:G:A p.(Arg1497Gln) NC_000019.10:38192203:G:A p.(Arg1497Gln) NC_000019.10:38192203:G:A Identity +LRG_1257t1:c.461G>T LRG_1257p1:p.Gly154Val NC_000017.11:40291468:G:T ERR:Data provider error: ValueError: Transcript LRG_1257t1 not found ERR:Data provider error: ValueError: Transcript LRG_1257t1 not found ERR:AlignmentMapper(tx_ac=LRG_1257t1, alt_ac=LRG_1257t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1257t1, alt_ac=LRG_1257t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1257t1 not found +NM_002661.5:c.2482T>A NP_002652.2:p.Ser828Thr NC_000016.10:81927145:T:A p.(Ser828Thr) NC_000016.10:81927145:T:A p.(Ser828Thr) NC_000016.10:81927145:T:A Identity +NM_001365999.1:c.6382T>G NP_001352928.1:p.Ser2128Ala NC_000001.11:43437685:T:G p.(Ser2128Ala) NC_000001.11:43437685:T:G p.(Ser2128Ala) NC_000001.11:43437685:T:G Identity +NM_001276378.2:c.842A>T NP_001263307.1:p.Glu281Val NC_000003.12:45826320:T:A p.(Glu281Val) NC_000003.12:45826320:T:A p.(Glu281Val) NC_000003.12:45826320:T:A Identity +NM_001008537.3:c.2909A>G NP_001008537.1:p.Asn970Ser NC_000023.11:74741647:T:C p.(Asn970Ser) NC_000023.11:74741647:T:C p.(Asn970Ser) NC_000023.11:74741647:T:C Identity +NM_001291860.2:c.8461G>T NP_001278789.1:p.Val2821Phe NC_000001.11:21846113:C:A p.(Val2821Phe) NC_000001.11:21846113:C:A p.(Val2821Phe) NC_000001.11:21846113:C:A Identity +NM_000612.6:c.386G>T NP_000603.1:p.Gly129Val NC_000011.10:2133143:C:A p.(Gly129Val) NC_000011.10:2133143:C:A p.(Gly129Val) NC_000011.10:2133143:C:A Identity +NM_025179.4:c.3713C>G NP_079455.3:p.Ala1238Gly NC_000001.11:208044668:G:C p.(Ala1238Gly) NC_000001.11:208044668:G:C p.(Ala1238Gly) NC_000001.11:208044668:G:C Identity +NM_001286130.2:c.1010T>A NP_001273059.1:p.Met337Lys NC_000016.10:57950386:A:T p.(Met337Lys) NC_000016.10:57950386:A:T p.(Met337Lys) NC_000016.10:57950386:A:T Identity +NM_000109.4:c.6131T>C NP_000100.3:p.Ile2044Thr NC_000023.11:32287663:A:G p.(Ile2044Thr) NC_000023.11:32287663:A:G p.(Ile2044Thr) NC_000023.11:32287663:A:G Identity +NM_001410772.1:c.1666G>C NP_001397701.1:p.Ala556Pro NC_000003.12:52403424:C:G p.(Ala556Pro) NC_000003.12:52403424:C:G p.(Ala556Pro) NC_000003.12:52403424:C:G Identity +NM_001318066.2:c.2324C>T NP_001304995.1:p.Ala775Val NC_000004.12:118739204:G:A p.(Ala775Val) NC_000004.12:118739204:G:A p.(Ala775Val) NC_000004.12:118739204:G:A Identity +NM_006903.4:c.737G>C NP_008834.3:p.Trp246Ser NC_000004.12:105396293:C:G p.(Trp246Ser) NC_000004.12:105396293:C:G p.(Trp246Ser) NC_000004.12:105396293:C:G Identity +NM_001330360.2:c.3748A>G NP_001317289.1:p.Thr1250Ala NC_000023.11:24841662:A:G p.(Thr1250Ala) NC_000023.11:24841662:A:G p.(Thr1250Ala) NC_000023.11:24841662:A:G Identity +NM_016580.4:c.2381C>A NP_057664.1:p.Ser794Tyr NC_000005.10:141955470:G:T p.(Ser794Tyr) NC_000005.10:141955470:G:T p.(Ser794Tyr) NC_000005.10:141955470:G:T Identity +NM_000152.5:c.1345T>G NP_000143.2:p.Ser449Ala NC_000017.11:80109962:T:G p.(Ser449Ala) NC_000017.11:80109962:T:G p.(Ser449Ala) NC_000017.11:80109962:T:G Identity +NM_001178098.2:c.1477A>G NP_001171569.1:p.Thr493Ala NC_000016.10:28937815:A:G p.(Thr493Ala) NC_000016.10:28937815:A:G p.(Thr493Ala) NC_000016.10:28937815:A:G Identity +NM_001410890.1:c.1900C>T NP_001397819.1:p.Pro634Ser NC_000001.11:161958543:C:T p.(Pro634Ser) NC_000001.11:161958543:C:T p.(Pro634Ser) NC_000001.11:161958543:C:T Identity +NM_001354705.2:c.2666G>C NP_001341634.1:p.Ser889Thr NC_000012.12:57581892:G:C p.(Ser889Thr) NC_000012.12:57581892:G:C p.(Ser889Thr) NC_000012.12:57581892:G:C Identity +NM_001257199.2:c.560G>T NP_001244128.1:p.Gly187Val NC_000012.12:50107582:G:T p.(Gly187Val) NC_000012.12:50107582:G:T p.(Gly187Val) NC_000012.12:50107582:G:T Identity +NM_001372.4:c.7950dup NP_001363.2:p.Leu2651fs NC_000017.11:11784427:A:AA p.(Leu2651ThrfsTer60) NC_000017.11:11784427:A:AA p.(Leu2651ThrfsTer60) ERR:SPDI Analogous +NM_001039885.3:c.985G>A NP_001034974.1:p.Val329Met NC_000019.10:46756434:G:A p.(Val329Met) NC_000019.10:46756434:G:A p.(Val329Met) NC_000019.10:46756434:G:A Identity +NM_004738.5:c.229G>A NP_004729.1:p.Asp77Asn NC_000020.11:58434618:G:A p.(Asp77Asn) NC_000020.11:58434618:G:A p.(Asp77Asn) NC_000020.11:58434618:G:A Identity +NM_000093.5:c.4282C>G NP_000084.3:p.Gln1428Glu NC_000009.12:134818706:C:G p.(Gln1428Glu) NC_000009.12:134818706:C:G p.(Gln1428Glu) NC_000009.12:134818706:C:G Identity +NM_001199107.2:c.1574G>A NP_001186036.1:p.Gly525Asp NC_000016.10:2500851:G:A p.(Gly525Asp) NC_000016.10:2500851:G:A p.(Gly525Asp) NC_000016.10:2500851:G:A Identity +NM_001127487.2:c.1975C>G NP_001120959.1:p.Leu659Val NC_000007.14:128841330:C:G p.(Leu659Val) NC_000007.14:128841330:C:G p.(Leu659Val) NC_000007.14:128841330:C:G Identity +NM_001350338.2:c.16G>T NP_001337267.1:p.Val6Leu NC_000021.9:32612227:C:A p.(Val6Leu) NC_000021.9:32612227:C:A p.(Val6Leu) NC_000021.9:32612227:C:A Identity +NM_001411101.1:c.1129G>T NP_001398030.1:p.Ala377Ser NC_000017.11:82809738:G:T p.(Ala377Ser) NC_000017.11:82809738:G:T p.(Ala377Ser) NC_000017.11:82809738:G:T Identity +NM_001278055.2:c.1096A>G NP_001264984.1:p.Ile366Val NC_000013.11:23355074:T:C p.(Ile366Val) NC_000013.11:23355074:T:C p.(Ile366Val) NC_000013.11:23355074:T:C Identity +NM_003737.4:c.1765G>A NP_003728.1:p.Glu589Lys NC_000011.10:6639848:C:T p.(Glu589Lys) NC_000011.10:6639848:C:T p.(Glu589Lys) NC_000011.10:6639848:C:T Identity +NM_001345867.2:c.233T>C NP_001332796.1:p.Leu78Pro NC_000004.12:44689844:T:C p.(Leu78Pro) NC_000004.12:44689844:T:C p.(Leu78Pro) NC_000004.12:44689844:T:C Identity +NM_000152.5:c.700A>G NP_000143.2:p.Thr234Ala NC_000017.11:80107563:A:G p.(Thr234Ala) NC_000017.11:80107563:A:G p.(Thr234Ala) NC_000017.11:80107563:A:G Identity +NM_006343.3:c.1073G>A NP_006334.2:p.Gly358Asp NC_000002.12:111975400:G:A p.(Gly358Asp) NC_000002.12:111975400:G:A p.(Gly358Asp) NC_000002.12:111975400:G:A Identity +NM_000111.3:c.2248G>A NP_000102.1:p.Gly750Arg NC_000007.14:107767601:C:T p.(Gly750Arg) NC_000007.14:107767601:C:T p.(Gly750Arg) NC_000007.14:107767601:C:T Identity +NM_001242581.2:c.307A>G NP_001229510.1:p.Met103Val NC_000020.11:19956615:A:G p.(Met103Val) NC_000020.11:19956615:A:G p.(Met103Val) NC_000020.11:19956615:A:G Identity +NM_001413017.1:c.2648G>A NP_001399946.1:p.Gly883Asp NC_000008.11:144512504:C:T p.(Gly883Asp) NC_000008.11:144512504:C:T p.(Gly883Asp) NC_000008.11:144512504:C:T Identity +NM_003730.6:c.367G>A NP_003721.2:p.Ala123Thr NC_000006.12:166938973:C:T p.(Ala123Thr) NC_000006.12:166938973:C:T p.(Ala123Thr) NC_000006.12:166938973:C:T Identity +NM_001278511.2:c.1964C>A NP_001265440.1:p.Pro655His NC_000015.10:82664854:G:T p.(Pro655His) NC_000015.10:82664854:G:T p.(Pro655His) NC_000015.10:82664854:G:T Identity +NM_015072.5:c.3239G>A NP_055887.3:p.Arg1080Gln NC_000014.9:75820073:G:A p.(Arg1080Gln) NC_000014.9:75820073:G:A p.(Arg1080Gln) NC_000014.9:75820073:G:A Identity +NM_001304482.2:c.3937A>G NP_001291411.1:p.Lys1313Glu NC_000003.12:47412418:A:G p.(Lys1313Glu) NC_000003.12:47412418:A:G p.(Lys1313Glu) NC_000003.12:47412418:A:G Identity +NM_001142800.2:c.8663G>C NP_001136272.1:p.Gly2888Ala NC_000006.12:63721367:C:G p.(Gly2888Ala) NC_000006.12:63721367:C:G p.(Gly2888Ala) NC_000006.12:63721367:C:G Identity +NM_002470.4:c.3751C>T NP_002461.2:p.Arg1251Ter NC_000017.11:10637913:G:A p.(Arg1251Ter) NC_000017.11:10637913:G:A p.(Arg1251Ter) NC_000017.11:10637913:G:A Identity +NM_006208.3:c.413A>G NP_006199.2:p.Glu138Gly NC_000006.12:131850088:A:G p.(Glu138Gly) NC_000006.12:131850088:A:G p.(Glu138Gly) NC_000006.12:131850088:A:G Identity +NM_006903.4:c.208G>C NP_008834.3:p.Val70Leu NC_000004.12:105456694:C:G p.(Val70Leu) NC_000004.12:105456694:C:G p.(Val70Leu) NC_000004.12:105456694:C:G Identity +NM_001040875.4:c.242A>C NP_001035808.1:p.Asp81Ala NC_000008.11:74360271:A:C p.(Asp81Ala) NC_000008.11:74360271:A:C p.(Asp81Ala) NC_000008.11:74360271:A:C Identity +NM_001282208.2:c.367G>C NP_001269137.1:p.Val123Leu NC_000009.12:34637097:C:G p.(Val123Leu) NC_000009.12:34637097:C:G p.(Val123Leu) NC_000009.12:34637097:C:G Identity +NM_000318.3:c.497T>G NP_000309.2:p.Leu166Trp NC_000008.11:76983681:A:C p.(Leu166Trp) NC_000008.11:76983681:A:C p.(Leu166Trp) NC_000008.11:76983681:A:C Identity +NM_001004334.4:c.2204C>A NP_001004334.3:p.Ser735Tyr NC_000017.11:38331364:G:T p.(Ser735Tyr) NC_000017.11:38331364:G:T p.(Ser735Tyr) NC_000017.11:38331364:G:T Identity +NM_002471.4:c.4171G>A NP_002462.2:p.Ala1391Thr NC_000014.9:23388862:C:T p.(Ala1391Thr) NC_000014.9:23388862:C:T p.(Ala1391Thr) NC_000014.9:23388862:C:T Identity +NM_001371986.1:c.1408C>T NP_001358915.1:p.Arg470Trp NC_000002.12:209816980:C:T p.(Arg470Trp) NC_000002.12:209816980:C:T p.(Arg470Trp) NC_000002.12:209816980:C:T Identity +NM_001193414.2:c.728A>G NP_001180343.1:p.His243Arg NC_000022.11:18126903:A:G p.(His243Arg) NC_000022.11:18126903:A:G p.(His243Arg) NC_000022.11:18126903:A:G Identity +NM_001127487.2:c.7300C>G NP_001120959.1:p.Arg2434Gly NC_000007.14:128856758:C:G p.(Arg2434Gly) NC_000007.14:128856758:C:G p.(Arg2434Gly) NC_000007.14:128856758:C:G Identity +NM_032957.5:c.466A>G NP_116575.3:p.Arg156Gly NC_000020.11:63662543:A:G p.(Arg156Gly) NC_000020.11:63662543:A:G p.(Arg156Gly) NC_000020.11:63662543:A:G Identity +NM_001261427.3:c.809C>G NP_001248356.1:p.Thr270Arg NC_000002.12:11779586:C:G p.(Thr270Arg) NC_000002.12:11779586:C:G p.(Thr270Arg) NC_000002.12:11779586:C:G Identity +NM_000336.3:c.1463G>C NP_000327.2:p.Ser488Thr NC_000016.10:23378763:G:C p.(Ser488Thr) NC_000016.10:23378763:G:C p.(Ser488Thr) NC_000016.10:23378763:G:C Identity +NM_017813.5:c.310G>A NP_060283.3:p.Asp104Asn NC_000008.11:56993275:C:T p.(Asp104Asn) NC_000008.11:56993275:C:T p.(Asp104Asn) NC_000008.11:56993275:C:T Identity +NM_007215.4:c.1189C>G NP_009146.2:p.Gln397Glu NC_000017.11:64482920:G:C p.(Gln397Glu) NC_000017.11:64482920:G:C p.(Gln397Glu) NC_000017.11:64482920:G:C Identity +NM_020376.4:c.770G>A NP_065109.1:p.Arg257Gln NC_000011.10:823705:G:A p.(Arg257Gln) NC_000011.10:823705:G:A p.(Arg257Gln) NC_000011.10:823705:G:A Identity +NM_001171653.2:c.1236G>A NP_001165124.1:p.Met412Ile NC_000002.12:144399878:C:T p.(Met412Ile) NC_000002.12:144399878:C:T p.(Met412Ile) NC_000002.12:144399878:C:T Identity +NM_001276479.2:c.660G>C NP_001263408.1:p.Gln220His NC_000019.10:5711788:C:G p.(Gln220His) NC_000019.10:5711788:C:G p.(Gln220His) NC_000019.10:5711788:C:G Identity +NM_015909.4:c.4814T>G NP_056993.2:p.Leu1605Arg NC_000002.12:15292749:A:C p.(Leu1605Arg) NC_000002.12:15292749:A:C p.(Leu1605Arg) NC_000002.12:15292749:A:C Identity +NM_001135597.2:c.1556A>G NP_001129069.1:p.Gln519Arg NC_000002.12:55336780:T:C p.(Gln519Arg) NC_000002.12:55336780:T:C p.(Gln519Arg) NC_000002.12:55336780:T:C Identity +NM_000235.4:c.56C>T NP_000226.2:p.Ser19Phe NC_000010.11:89247592:G:A p.(Ser19Phe) NC_000010.11:89247592:G:A p.(Ser19Phe) NC_000010.11:89247592:G:A Identity +NM_005560.6:c.8614G>C NP_005551.3:p.Asp2872His NC_000020.11:62313692:C:G p.(Asp2872His) NC_000020.11:62313692:C:G p.(Asp2872His) NC_000020.11:62313692:C:G Identity +NM_000152.5:c.2363C>A NP_000143.2:p.Pro788His NC_000017.11:80117630:C:A p.(Pro788His) NC_000017.11:80117630:C:A p.(Pro788His) NC_000017.11:80117630:C:A Identity +NM_006269.2:c.3670A>G NP_006260.1:p.Ser1224Gly NC_000008.11:54627551:A:G p.(Ser1224Gly) NC_000008.11:54627551:A:G p.(Ser1224Gly) NC_000008.11:54627551:A:G Identity +NM_001081.4:c.5351A>G NP_001072.2:p.Gln1784Arg NC_000010.11:16940228:T:C p.(Gln1784Arg) NC_000010.11:16940228:T:C p.(Gln1784Arg) NC_000010.11:16940228:T:C Identity +NM_001199.4:c.1864G>C NP_001190.1:p.Val622Leu NC_000008.11:22196777:G:C p.(Val622Leu) NC_000008.11:22196777:G:C p.(Val622Leu) NC_000008.11:22196777:G:C Identity +NM_001018088.3:c.7382dup NP_001018098.1:p.Asn2461fs NC_000015.10:61920161:TT:TTT p.(Asn2461LysfsTer54) NC_000015.10:61920161:TT:TTT p.(Asn2461LysfsTer54) ERR:SPDI Analogous +NM_024652.6:c.5938G>C NP_078928.3:p.Glu1980Gln NC_000015.10:101068737:G:C p.(Glu1980Gln) NC_000015.10:101068737:G:C p.(Glu1980Gln) NC_000015.10:101068737:G:C Identity +NM_005148.4:c.104C>A NP_005139.1:p.Ser35Tyr NC_000017.11:28552453:G:T p.(Ser35Tyr) NC_000017.11:28552453:G:T p.(Ser35Tyr) NC_000017.11:28552453:G:T Identity +NM_206933.4:c.14893G>C NP_996816.3:p.Val4965Leu NC_000001.11:215640632:C:G p.(Val4965Leu) NC_000001.11:215640632:C:G p.(Val4965Leu) NC_000001.11:215640632:C:G Identity +NM_001942.4:c.2815A>G NP_001933.2:p.Met939Val NC_000018.10:31355010:A:G p.(Met939Val) NC_000018.10:31355010:A:G p.(Met939Val) NC_000018.10:31355010:A:G Identity +NM_001077397.1:c.574A>T NP_001070865.1:p.Met192Leu NC_000001.11:234608920:T:A p.(Met192Leu) NC_000001.11:234608920:T:A p.(Met192Leu) NC_000001.11:234608920:T:A Identity +NM_001145853.1:c.2038_2040del NP_001139325.1:p.Glu680del NC_000004.12:6301830:AGGAG:AG p.(Glu680del) NC_000004.12:6301830:AGGAG:AG p.(Glu680del) NC_000004.12:6301832:GAG: Identity +NM_016148.5:c.4252C>T NP_057232.2:p.Arg1418Trp NC_000019.10:50667707:G:A p.(Arg1418Trp) NC_000019.10:50667707:G:A p.(Arg1418Trp) NC_000019.10:50667707:G:A Identity +NM_001113178.3:c.3275A>G NP_001106649.1:p.Gln1092Arg NC_000016.10:69693102:A:G p.(Gln1092Arg) NC_000016.10:69693102:A:G p.(Gln1092Arg) NC_000016.10:69693102:A:G Identity +NM_001018088.3:c.2620T>G NP_001018098.1:p.Ser874Ala NC_000015.10:61972761:A:C p.(Ser874Ala) NC_000015.10:61972761:A:C p.(Ser874Ala) NC_000015.10:61972761:A:C Identity +NM_001178075.2:c.203A>C NP_001171546.1:p.Glu68Ala NC_000007.14:97864479:T:G p.(Glu68Ala) NC_000007.14:97864479:T:G p.(Glu68Ala) NC_000007.14:97864479:T:G Identity +NM_001135242.2:c.641del NP_001128714.1:p.His214fs NC_000008.11:133250496:T: p.(His214ProfsTer3) NC_000008.11:133250496:T: p.(His214ProfsTer3) NC_000008.11:133250496:T: Analogous +NM_001297644.1:c.757G>A NP_001284573.1:p.Gly253Ser NC_000005.10:64801308:G:A p.(Gly253Ser) NC_000005.10:64801308:G:A p.(Gly253Ser) NC_000005.10:64801308:G:A Identity +NM_001164507.2:c.4684G>T NP_001157979.2:p.Val1562Phe NC_000002.12:151667838:C:A p.(Val1562Phe) NC_000002.12:151667838:C:A p.(Val1562Phe) NC_000002.12:151667838:C:A Identity +NM_000532.5:c.166G>T NP_000523.2:p.Asp56Tyr NC_000003.12:136250540:G:T p.(Asp56Tyr) NC_000003.12:136250540:G:T p.(Asp56Tyr) NC_000003.12:136250540:G:T Identity +NM_001127493.3:c.85T>A NP_001120965.1:p.Tyr29Asn NC_000004.12:113174478:T:A p.(Tyr29Asn) NC_000004.12:113174478:T:A p.(Tyr29Asn) NC_000004.12:113174478:T:A Identity +NM_001315529.2:c.4130T>C NP_001302458.1:p.Phe1377Ser NC_000021.9:46398050:T:C p.(Phe1377Ser) NC_000021.9:46398050:T:C p.(Phe1377Ser) NC_000021.9:46398050:T:C Identity +NM_000260.4:c.6604C>T NP_000251.3:p.Leu2202Phe NC_000011.10:77214651:C:T p.(Leu2202Phe) NC_000011.10:77214651:C:T p.(Leu2202Phe) NC_000011.10:77214651:C:T Identity +NM_000274.4:c.922G>A NP_000265.1:p.Asp308Asn NC_000010.11:124401817:C:T p.(Asp308Asn) NC_000010.11:124401817:C:T p.(Asp308Asn) NC_000010.11:124401817:C:T Identity +NM_024589.3:c.208C>T NP_078865.1:p.Gln70Ter NC_000016.10:4801313:G:A p.(Gln70Ter) NC_000016.10:4801313:G:A p.(Gln70Ter) NC_000016.10:4801313:G:A Identity +NM_001079515.3:c.1493delA NP_001072983.1:p.Lys498fs NC_000001.11:235448669:AA:A p.(Lys498SerfsTer12) NC_000001.11:235448669:AA:A p.(Lys498SerfsTer12) NC_000001.11:235448670:A: Analogous +NM_001291902.2:c.1430T>C NP_001278831.1:p.Met477Thr NC_000011.10:68423633:T:C p.(Met477Thr) NC_000011.10:68423633:T:C p.(Met477Thr) NC_000011.10:68423633:T:C Identity +NM_001291411.2:c.5302G>C NP_001278340.2:p.Ala1768Pro NC_000021.9:33554532:G:C p.(Ala1768Pro) NC_000021.9:33554532:G:C p.(Ala1768Pro) NC_000021.9:33554532:G:C Identity +NM_001170414.2:c.550C>T NP_001163885.1:p.Gln184Ter NC_000009.12:69221162:C:T p.(Gln184Ter) NC_000009.12:69221162:C:T p.(Gln184Ter) NC_000009.12:69221162:C:T Identity +NM_032193.4:c.478C>A NP_115569.2:p.Gln160Lys NC_000011.10:65719799:G:T p.(Gln160Lys) NC_000011.10:65719799:G:T p.(Gln160Lys) NC_000011.10:65719799:G:T Identity +NM_173630.4:c.2323G>A NP_775901.3:p.Ala775Thr NC_000018.10:70145769:C:T p.(Ala775Thr) NC_000018.10:70145769:C:T p.(Ala775Thr) NC_000018.10:70145769:C:T Identity +NM_000489.6:c.2939A>G NP_000480.3:p.Asp980Gly NC_000023.11:77682316:T:C p.(Asp980Gly) NC_000023.11:77682316:T:C p.(Asp980Gly) NC_000023.11:77682316:T:C Identity +NM_000431.4:c.1045G>C NP_000422.1:p.Glu349Gln NC_000012.12:109596430:G:C p.(Glu349Gln) NC_000012.12:109596430:G:C p.(Glu349Gln) NC_000012.12:109596430:G:C Identity +NM_001004334.4:c.3688C>T NP_001004334.3:p.Leu1230Phe NC_000017.11:38329880:G:A p.(Leu1230Phe) NC_000017.11:38329880:G:A p.(Leu1230Phe) NC_000017.11:38329880:G:A Identity +NM_001164507.2:c.23647T>C NP_001157979.2:p.Ser7883Pro NC_000002.12:151506167:A:G p.(Ser7883Pro) NC_000002.12:151506167:A:G p.(Ser7883Pro) NC_000002.12:151506167:A:G Identity +NM_024577.4:c.2717A>G NP_078853.2:p.Tyr906Cys NC_000005.10:149027014:T:C p.(Tyr906Cys) NC_000005.10:149027014:T:C p.(Tyr906Cys) NC_000005.10:149027014:T:C Identity +NM_002473.6:c.1096C>T NP_002464.1:p.Pro366Ser NC_000022.11:36319551:G:A p.(Pro366Ser) NC_000022.11:36319551:G:A p.(Pro366Ser) NC_000022.11:36319551:G:A Identity +NM_000702.4:c.1167G>A NP_000693.1:p.Met389Ile NC_000001.11:160128800:G:A p.(Met389Ile) NC_000001.11:160128800:G:A p.(Met389Ile) NC_000001.11:160128800:G:A Identity +NM_001018041.2:c.911A>G NP_001018051.1:p.Tyr304Cys NC_000006.12:145627500:T:C p.(Tyr304Cys) NC_000006.12:145627500:T:C p.(Tyr304Cys) NC_000006.12:145627500:T:C Identity +NM_003322.6:c.236C>A NP_003313.3:p.Ala79Asp NC_000006.12:35511760:G:T p.(Ala79Asp) NC_000006.12:35511760:G:T p.(Ala79Asp) NC_000006.12:35511760:G:T Identity +NM_001024956.3:c.546A>G NP_001020127.1:p.Ile182Met NC_000011.10:121307157:A:G p.(Ile182Met) NC_000011.10:121307157:A:G p.(Ile182Met) NC_000011.10:121307157:A:G Identity +NM_001256182.2:c.718G>A NP_001243111.1:p.Asp240Asn NC_000016.10:89288553:C:T p.(Asp240Asn) NC_000016.10:89288553:C:T p.(Asp240Asn) NC_000016.10:89288553:C:T Identity +NM_002473.6:c.3844C>G NP_002464.1:p.Leu1282Val NC_000022.11:36293856:G:C p.(Leu1282Val) NC_000022.11:36293856:G:C p.(Leu1282Val) NC_000022.11:36293856:G:C Identity +NM_001303110.2:c.1522G>A NP_001290039.1:p.Val508Ile NC_000013.11:110192227:C:T p.(Val508Ile) NC_000013.11:110192227:C:T p.(Val508Ile) NC_000013.11:110192227:C:T Identity +NM_198576.4:c.1372C>G NP_940978.2:p.Gln458Glu NC_000001.11:1042149:C:G p.(Gln458Glu) NC_000001.11:1042149:C:G p.(Gln458Glu) NC_000001.11:1042149:C:G Identity +NM_014244.5:c.1319A>G NP_055059.2:p.Gln440Arg NC_000005.10:179154111:T:C p.(Gln440Arg) NC_000005.10:179154111:T:C p.(Gln440Arg) NC_000005.10:179154111:T:C Identity +NM_001205329.2:c.23G>A NP_001192258.1:p.Arg8Gln NC_000011.10:134069105:G:A p.(Arg8Gln) NC_000011.10:134069105:G:A p.(Arg8Gln) NC_000011.10:134069105:G:A Identity +NM_001163435.3:c.1838A>G NP_001156907.2:p.Asn613Ser NC_000004.12:106212771:T:C p.(Asn613Ser) NC_000004.12:106212771:T:C p.(Asn613Ser) NC_000004.12:106212771:T:C Identity +NM_001129.5:c.937G>A NP_001120.3:p.Asp313Asn NC_000007.14:44108080:G:A p.(Asp313Asn) NC_000007.14:44108080:G:A p.(Asp313Asn) NC_000007.14:44108080:G:A Identity +NM_000527.5:c.1088C>T NP_000518.1:p.Thr363Ile NC_000019.10:11111540:C:T p.(Thr363Ile) NC_000019.10:11111540:C:T p.(Thr363Ile) NC_000019.10:11111540:C:T Identity +NM_198407.2:c.991C>T NP_940799.1:p.Arg331Trp NC_000003.12:172445270:G:A p.(Arg331Trp) NC_000003.12:172445270:G:A p.(Arg331Trp) NC_000003.12:172445270:G:A Identity +NM_000260.4:c.2155T>C NP_000251.3:p.Trp719Arg NC_000011.10:77175431:T:C p.(Trp719Arg) NC_000011.10:77175431:T:C p.(Trp719Arg) NC_000011.10:77175431:T:C Identity +NM_006231.4:c.3423C>G NP_006222.2:p.Ile1141Met NC_000012.12:132657384:G:C p.(Ile1141Met) NC_000012.12:132657384:G:C p.(Ile1141Met) NC_000012.12:132657384:G:C Identity +NM_000182.5:c.734T>G NP_000173.2:p.Ile245Ser NC_000002.12:26215117:A:C p.(Ile245Ser) NC_000002.12:26215117:A:C p.(Ile245Ser) NC_000002.12:26215117:A:C Identity +NM_001371986.1:c.2743A>G NP_001358915.1:p.Thr915Ala NC_000002.12:209831558:A:G p.(Thr915Ala) NC_000002.12:209831558:A:G p.(Thr915Ala) NC_000002.12:209831558:A:G Identity +NM_014510.3:c.2405C>T NP_055325.2:p.Pro802Leu NC_000007.14:83135144:G:A p.(Pro802Leu) NC_000007.14:83135144:G:A p.(Pro802Leu) NC_000007.14:83135144:G:A Identity +NM_005188.4:c.1246T>C NP_005179.2:p.Cys416Arg NC_000011.10:119278527:T:C p.(Cys416Arg) NC_000011.10:119278527:T:C p.(Cys416Arg) NC_000011.10:119278527:T:C Identity +NM_001278055.2:c.8068A>G NP_001264984.1:p.Ile2690Val NC_000013.11:23335366:T:C p.(Ile2690Val) NC_000013.11:23335366:T:C p.(Ile2690Val) NC_000013.11:23335366:T:C Identity +NM_014727.3:c.7569G>A NP_055542.1:p.Met2523Ile NC_000019.10:35737653:G:A p.(Met2523Ile) NC_000019.10:35737653:G:A p.(Met2523Ile) NC_000019.10:35737653:G:A Identity +NM_001306190.2:c.382A>G NP_001293119.1:p.Ile128Val NC_000009.12:91355918:T:C p.(Ile128Val) NC_000009.12:91355918:T:C p.(Ile128Val) NC_000009.12:91355918:T:C Identity +NM_001346897.2:c.2182C>G NP_001333826.1:p.His728Asp NC_000007.14:55181325:C:G p.(His728Asp) NC_000007.14:55181325:C:G p.(His728Asp) NC_000007.14:55181325:C:G Identity +NM_000784.4:c.1477C>A NP_000775.1:p.Leu493Met NC_000002.12:218814910:C:A p.(Leu493Met) NC_000002.12:218814910:C:A p.(Leu493Met) NC_000002.12:218814910:C:A Identity +NM_001080414.4:c.1982T>C NP_001073883.2:p.Val661Ala NC_000014.9:91313833:A:G p.(Val661Ala) NC_000014.9:91313833:A:G p.(Val661Ala) NC_000014.9:91313833:A:G Identity +NM_001282948.2:c.2936G>T NP_001269877.1:p.Gly979Val NC_000010.11:63208186:C:A p.(Gly979Val) NC_000010.11:63208186:C:A p.(Gly979Val) NC_000010.11:63208186:C:A Identity +NM_001165966.2:c.574C>T NP_001159438.1:p.Gln192Ter NC_000017.11:6478641:G:A p.(Gln192Ter) NC_000017.11:6478641:G:A p.(Gln192Ter) NC_000017.11:6478641:G:A Identity +NM_001042594.2:c.164G>C NP_001036059.1:p.Gly55Ala NC_000007.14:124859101:C:G p.(Gly55Ala) NC_000007.14:124859101:C:G p.(Gly55Ala) NC_000007.14:124859101:C:G Identity +NM_001303496.3:c.343A>G NP_001290425.1:p.Met115Val NC_000007.14:93135628:T:C p.(Met115Val) NC_000007.14:93135628:T:C p.(Met115Val) NC_000007.14:93135628:T:C Identity +NM_001257281.2:c.842C>T NP_001244210.1:p.Pro281Leu NC_000002.12:232136610:C:T p.(Pro281Leu) NC_000002.12:232136610:C:T p.(Pro281Leu) NC_000002.12:232136610:C:T Identity +NM_001135597.2:c.5429C>T NP_001129069.1:p.Thr1810Ile NC_000002.12:55295715:G:A p.(Thr1810Ile) NC_000002.12:55295715:G:A p.(Thr1810Ile) NC_000002.12:55295715:G:A Identity +NM_001197104.2:c.6686C>T NP_001184033.1:p.Ser2229Leu NC_000011.10:118502577:C:T p.(Ser2229Leu) NC_000011.10:118502577:C:T p.(Ser2229Leu) NC_000011.10:118502577:C:T Identity +NM_001271999.2:c.6112C>T NP_001258928.1:p.Pro2038Ser NC_000001.11:62474048:G:A p.(Pro2038Ser) NC_000001.11:62474048:G:A p.(Pro2038Ser) NC_000001.11:62474048:G:A Identity +NM_002334.4:c.3642T>G NP_002325.2:p.Asn1214Lys NC_000011.10:46875860:A:C p.(Asn1214Lys) NC_000011.10:46875860:A:C p.(Asn1214Lys) NC_000011.10:46875860:A:C Identity +NM_001130991.3:c.1072C>T NP_001124463.1:p.Arg358Trp NC_000011.10:119052344:G:A p.(Arg358Trp) NC_000011.10:119052344:G:A p.(Arg358Trp) NC_000011.10:119052344:G:A Identity +NM_001122670.2:c.1663C>T NP_001116142.1:p.Arg555Trp NC_000023.11:72635205:G:A p.(Arg555Trp) NC_000023.11:72635205:G:A p.(Arg555Trp) NC_000023.11:72635205:G:A Identity +NM_001261826.3:c.307C>T NP_001248755.1:p.His103Tyr NC_000019.10:2137057:G:A p.(His103Tyr) NC_000019.10:2137057:G:A p.(His103Tyr) NC_000019.10:2137057:G:A Identity +NM_001025205.2:c.255G>C NP_001020376.1:p.Met85Ile NC_000003.12:184179036:G:C p.(Met85Ile) NC_000003.12:184179036:G:C p.(Met85Ile) NC_000003.12:184179036:G:C Identity +NM_021620.4:c.1589C>A NP_067633.2:p.Ser530Tyr NC_000006.12:99614223:C:A p.(Ser530Tyr) NC_000006.12:99614223:C:A p.(Ser530Tyr) NC_000006.12:99614223:C:A Identity +NM_000719.7:c.6337G>A NP_000710.5:p.Asp2113Asn NC_000012.12:2691118:G:A p.(Asp2113Asn) NC_000012.12:2691118:G:A p.(Asp2113Asn) NC_000012.12:2691118:G:A Identity +NM_001943.5:c.530T>C NP_001934.2:p.Leu177Pro NC_000018.10:31522088:T:C p.(Leu177Pro) NC_000018.10:31522088:T:C p.(Leu177Pro) NC_000018.10:31522088:T:C Identity +NM_001002019.3:c.14C>G NP_001002019.1:p.Ala5Gly NC_000012.12:131929929:C:G p.(Ala5Gly) NC_000012.12:131929929:C:G p.(Ala5Gly) NC_000012.12:131929929:C:G Identity +NM_001083962.2:c.509C>T NP_001077431.1:p.Thr170Ile NC_000018.10:55350398:G:A p.(Thr170Ile) NC_000018.10:55350398:G:A p.(Thr170Ile) NC_000018.10:55350398:G:A Identity +NM_001278511.2:c.1576C>G NP_001265440.1:p.Leu526Val NC_000015.10:82666926:G:C p.(Leu526Val) NC_000015.10:82666926:G:C p.(Leu526Val) NC_000015.10:82666926:G:C Identity +NM_001371986.1:c.1978G>C NP_001358915.1:p.Val660Leu NC_000002.12:209820325:G:C p.(Val660Leu) NC_000002.12:209820325:G:C p.(Val660Leu) NC_000002.12:209820325:G:C Identity +NM_000382.3:c.565G>A NP_000373.1:p.Val189Ile NC_000017.11:19656458:G:A p.(Val189Ile) NC_000017.11:19656458:G:A p.(Val189Ile) NC_000017.11:19656458:G:A Identity +NM_001143779.2:c.1163G>A NP_001137251.1:p.Gly388Asp NC_000012.12:110163039:G:A p.(Gly388Asp) NC_000012.12:110163039:G:A p.(Gly388Asp) NC_000012.12:110163039:G:A Identity +NM_001410875.1:c.620G>A NP_001397804.1:p.Arg207Gln NC_000006.12:33305236:C:T p.(Arg207Gln) NC_000006.12:33305236:C:T p.(Arg207Gln) NC_000006.12:33305236:C:T Identity +NM_207391.3:c.590T>C NP_997274.2:p.Val197Ala NC_000019.10:32676852:T:C p.(Val197Ala) NC_000019.10:32676852:T:C p.(Val197Ala) NC_000019.10:32676852:T:C Identity +NM_001363518.2:c.568C>T NP_001350447.1:p.His190Tyr NC_000010.11:71361981:C:T p.(His190Tyr) NC_000010.11:71361981:C:T p.(His190Tyr) NC_000010.11:71361981:C:T Identity +NM_001410805.1:c.1474C>T NP_001397734.1:p.His492Tyr NC_000003.12:128912583:C:T p.(His492Tyr) NC_000003.12:128912583:C:T p.(His492Tyr) NC_000003.12:128912583:C:T Identity +NM_003705.5:c.1130A>C NP_003696.2:p.Lys377Thr NC_000002.12:171813379:T:G p.(Lys377Thr) NC_000002.12:171813379:T:G p.(Lys377Thr) NC_000002.12:171813379:T:G Identity +NM_001243254.2:c.238C>T NP_001230183.1:p.Arg80Ter NC_000011.10:9206725:G:A p.(Arg80Ter) NC_000011.10:9206725:G:A p.(Arg80Ter) NC_000011.10:9206725:G:A Identity +NM_001308133.2:c.3266A>G NP_001295062.1:p.Asn1089Ser NC_000014.9:45176097:A:G p.(Asn1089Ser) NC_000014.9:45176097:A:G p.(Asn1089Ser) NC_000014.9:45176097:A:G Identity +NM_001178007.2:c.994C>G NP_001171478.1:p.Pro332Ala NC_000004.12:122742885:C:G p.(Pro332Ala) NC_000004.12:122742885:C:G p.(Pro332Ala) NC_000004.12:122742885:C:G Identity +NM_014014.5:c.1196G>A NP_054733.2:p.Gly399Asp NC_000002.12:96297643:C:T p.(Gly399Asp) NC_000002.12:96297643:C:T p.(Gly399Asp) NC_000002.12:96297643:C:T Identity +NM_001378454.1:c.8744C>T NP_001365383.1:p.Ala2915Val NC_000002.12:73490702:C:T p.(Ala2915Val) NC_000002.12:73490702:C:T p.(Ala2915Val) NC_000002.12:73490702:C:T Identity +NM_001351059.2:c.794G>A NP_001337988.1:p.Arg265Lys NC_000011.10:68049094:G:A p.(Arg265Lys) NC_000011.10:68049094:G:A p.(Arg265Lys) NC_000011.10:68049094:G:A Identity +NM_032492.4:c.89G>A NP_115881.3:p.Ser30Asn NC_000003.12:9890810:G:A p.(Ser30Asn) NC_000003.12:9890810:G:A p.(Ser30Asn) NC_000003.12:9890810:G:A Identity +NM_152384.3:c.844G>T NP_689597.1:p.Glu282Ter NC_000002.12:169503121:G:T p.(Glu282Ter) NC_000002.12:169503121:G:T p.(Glu282Ter) NC_000002.12:169503121:G:T Identity +NM_001024218.2:c.1705A>C NP_001019389.1:p.Ile569Leu NC_000014.9:67143416:A:C p.(Ile569Leu) NC_000014.9:67143416:A:C p.(Ile569Leu) NC_000014.9:67143416:A:C Identity +NM_000036.3:c.285A>C NP_000027.3:p.Lys95Asn NC_000001.11:114686840:T:G p.(Lys95Asn) NC_000001.11:114686840:T:G p.(Lys95Asn) NC_000001.11:114686840:T:G Identity +NM_001376.5:c.5996G>A NP_001367.2:p.Cys1999Tyr NC_000014.9:102009860:G:A p.(Cys1999Tyr) NC_000014.9:102009860:G:A p.(Cys1999Tyr) NC_000014.9:102009860:G:A Identity +NM_182493.3:c.478A>G NP_872299.2:p.Asn160Asp NC_000016.10:46740146:T:C p.(Asn160Asp) NC_000016.10:46740146:T:C p.(Asn160Asp) NC_000016.10:46740146:T:C Identity +NM_001277126.2:c.411C>A NP_001264055.1:p.Phe137Leu NC_000019.10:53811247:G:T p.(Phe137Leu) NC_000019.10:53811247:G:T p.(Phe137Leu) NC_000019.10:53811247:G:T Identity +NM_001131019.3:c.20C>A NP_001124491.1:p.Thr7Asn NC_000017.11:44915466:G:T p.(Thr7Asn) NC_000017.11:44915466:G:T p.(Thr7Asn) NC_000017.11:44915466:G:T Identity +NM_001128431.4:c.437G>A NP_001121903.1:p.Gly146Glu NC_000008.11:22408475:G:A p.(Gly146Glu) NC_000008.11:22408475:G:A p.(Gly146Glu) NC_000008.11:22408475:G:A Identity +NM_138459.5:c.580G>A NP_612468.1:p.Glu194Lys NC_000006.12:117694068:G:A p.(Glu194Lys) NC_000006.12:117694068:G:A p.(Glu194Lys) NC_000006.12:117694068:G:A Identity +NM_001410807.1:c.1288G>A NP_001397736.1:p.Glu430Lys NC_000004.12:128948500:C:T p.(Glu430Lys) NC_000004.12:128948500:C:T p.(Glu430Lys) NC_000004.12:128948500:C:T Identity +NM_015073.3:c.4220C>T NP_055888.1:p.Ser1407Leu NC_000019.10:38182529:C:T p.(Ser1407Leu) NC_000019.10:38182529:C:T p.(Ser1407Leu) NC_000019.10:38182529:C:T Identity +NM_130836.3:c.334G>A NP_570849.2:p.Gly112Ser NC_000003.12:193615023:G:A p.(Gly112Ser) NC_000003.12:193615023:G:A p.(Gly112Ser) NC_000003.12:193615023:G:A Identity +NM_020778.5:c.896C>T NP_065829.4:p.Ala299Val NC_000015.10:84840174:C:T p.(Ala299Val) NC_000015.10:84840174:C:T p.(Ala299Val) NC_000015.10:84840174:C:T Identity +NM_001040436.3:c.1018C>T NP_001035526.1:p.Pro340Ser NC_000012.12:32750803:G:A p.(Pro340Ser) NC_000012.12:32750803:G:A p.(Pro340Ser) NC_000012.12:32750803:G:A Identity +NM_001287424.2:c.131C>T NP_001274353.1:p.Ala44Val NC_000019.10:33302388:G:A p.(Ala44Val) NC_000019.10:33302388:G:A p.(Ala44Val) NC_000019.10:33302388:G:A Identity +NM_001010895.4:c.869C>T NP_001010895.2:p.Ala290Val NC_000009.12:95915747:C:T p.(Ala290Val) NC_000009.12:95915747:C:T p.(Ala290Val) NC_000009.12:95915747:C:T Identity +NM_152617.4:c.1091C>T NP_689830.2:p.Thr364Ile NC_000003.12:196472443:G:A p.(Thr364Ile) NC_000003.12:196472443:G:A p.(Thr364Ile) NC_000003.12:196472443:G:A Identity +NM_018112.3:c.153G>T NP_060582.1:p.Trp51Cys NC_000009.12:105705636:G:T p.(Trp51Cys) NC_000009.12:105705636:G:T p.(Trp51Cys) NC_000009.12:105705636:G:T Identity +NM_001143990.2:c.1533A>C NP_001137462.1:p.Glu511Asp NC_000017.11:7703371:A:C p.(Glu511Asp) NC_000017.11:7703371:A:C p.(Glu511Asp) NC_000017.11:7703371:A:C Identity +NM_021620.4:c.679A>G NP_067633.2:p.Ile227Val NC_000006.12:99613313:A:G p.(Ile227Val) NC_000006.12:99613313:A:G p.(Ile227Val) NC_000006.12:99613313:A:G Identity +NM_001134335.2:c.1451dup NP_001127807.1:p.Thr485fs NC_000007.14:6028690:GG:GGG p.(Thr485AsnfsTer21) NC_000007.14:6028690:GG:GGG p.(Thr485AsnfsTer21) ERR:SPDI Analogous +NM_001244134.1:c.1223G>A NP_001231063.1:p.Arg408His NC_000010.11:30459450:G:A p.(Arg408His) NC_000010.11:30459450:G:A p.(Arg408His) NC_000010.11:30459450:G:A Identity +NM_207346.3:c.1419G>A NP_997229.2:p.Met473Ile NC_000017.11:75523767:G:A p.(Met473Ile) NC_000017.11:75523767:G:A p.(Met473Ile) NC_000017.11:75523767:G:A Identity +NM_001130992.3:c.416G>T NP_001124464.1:p.Gly139Val NC_000003.12:139538802:C:A p.(Gly139Val) NC_000003.12:139538802:C:A p.(Gly139Val) NC_000003.12:139538802:C:A Identity +NM_001098209.2:c.2092C>T NP_001091679.1:p.Leu698Phe NC_000003.12:41238030:C:T p.(Leu698Phe) NC_000003.12:41238030:C:T p.(Leu698Phe) NC_000003.12:41238030:C:T Identity +NM_001354609.2:c.1087T>G NP_001341538.1:p.Ser363Ala NC_000007.14:140794360:A:C p.(Ser363Ala) NC_000007.14:140794360:A:C p.(Ser363Ala) NC_000007.14:140794360:A:C Identity +NM_001122769.3:c.305A>G NP_001116241.1:p.Lys102Arg NC_000006.12:79513626:T:C p.(Lys102Arg) NC_000006.12:79513626:T:C p.(Lys102Arg) NC_000006.12:79513626:T:C Identity +NM_001346897.2:c.1840G>A NP_001333826.1:p.Val614Met NC_000007.14:55173037:G:A p.(Val614Met) NC_000007.14:55173037:G:A p.(Val614Met) NC_000007.14:55173037:G:A Identity +NM_006269.2:c.1380G>T NP_006260.1:p.Lys460Asn NC_000008.11:54625261:G:T p.(Lys460Asn) NC_000008.11:54625261:G:T p.(Lys460Asn) NC_000008.11:54625261:G:T Identity +NM_000062.3:c.1258G>A NP_000053.2:p.Asp420Asn NC_000011.10:57614335:G:A p.(Asp420Asn) NC_000011.10:57614335:G:A p.(Asp420Asn) NC_000011.10:57614335:G:A Identity +NM_006269.2:c.2960G>A NP_006260.1:p.Cys987Tyr NC_000008.11:54626841:G:A p.(Cys987Tyr) NC_000008.11:54626841:G:A p.(Cys987Tyr) NC_000008.11:54626841:G:A Identity +NM_024105.4:c.387G>A NP_077010.1:p.Met129Ile NC_000022.11:49910515:C:T p.(Met129Ile) NC_000022.11:49910515:C:T p.(Met129Ile) NC_000022.11:49910515:C:T Identity +NM_001280541.2:c.2488G>C NP_001267470.1:p.Val830Leu NC_000003.12:129502846:G:C p.(Val830Leu) NC_000003.12:129502846:G:C p.(Val830Leu) NC_000003.12:129502846:G:C Identity +NM_001042529.3:c.844C>G NP_001035994.1:p.Leu282Val NC_000017.11:42564103:C:G p.(Leu282Val) NC_000017.11:42564103:C:G p.(Leu282Val) NC_000017.11:42564103:C:G Identity +NM_006929.5:c.1A>G NP_008860.4:p.Met1Val NC_000006.12:31959192:A:G p.(Met1Val) NC_000006.12:31959192:A:G p.Met1? NC_000006.12:31959192:A:G Identity +NM_001366574.1:c.1903A>G NP_001353503.1:p.Ile635Val NC_000012.12:88194986:A:G p.(Ile635Val) NC_000012.12:88194986:A:G p.(Ile635Val) NC_000012.12:88194986:A:G Identity +NM_001365536.1:c.5502C>A NP_001352465.1:p.Asp1834Glu NC_000002.12:166199136:G:T p.(Asp1834Glu) NC_000002.12:166199136:G:T p.(Asp1834Glu) NC_000002.12:166199136:G:T Identity +NM_014516.4:c.1249G>A NP_055331.1:p.Gly417Ser NC_000019.10:54148501:G:A p.(Gly417Ser) NC_000019.10:54148501:G:A p.(Gly417Ser) NC_000019.10:54148501:G:A Identity +NM_001365819.1:c.1208C>T NP_001352748.1:p.Ala403Val NC_000022.11:50465127:G:A p.(Ala403Val) NC_000022.11:50465127:G:A p.(Ala403Val) NC_000022.11:50465127:G:A Identity +NM_000138.5:c.4532del NP_000129.3:p.Cys1511fs NC_000015.10:48468461:C: p.(Cys1511LeufsTer9) NC_000015.10:48468461:C: p.(Cys1511LeufsTer9) NC_000015.10:48468461:C: Analogous +NM_023077.3:c.251G>A NP_075565.2:p.Gly84Asp NC_000001.11:52688164:C:T p.(Gly84Asp) NC_000001.11:52688164:C:T p.(Gly84Asp) NC_000001.11:52688164:C:T Identity +NM_002709.3:c.74A>G NP_002700.1:p.Lys25Arg NC_000002.12:28776871:A:G p.(Lys25Arg) NC_000002.12:28776871:A:G p.(Lys25Arg) NC_000002.12:28776871:A:G Identity +NM_002858.4:c.1369C>T NP_002849.1:p.Arg457Ter NC_000001.11:94491229:C:T p.(Arg457Ter) NC_000001.11:94491229:C:T p.(Arg457Ter) NC_000001.11:94491229:C:T Identity +NM_020231.3:c.96G>C NP_064616.2:p.Trp32Cys NC_000003.12:119469829:G:C ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020231.3 not found +NM_001184985.2:c.1234A>G NP_001171914.1:p.Met412Val NC_000012.12:830082:A:G p.(Met412Val) NC_000012.12:830082:A:G p.(Met412Val) NC_000012.12:830082:A:G Identity +NM_000094.4:c.7378A>C NP_000085.1:p.Lys2460Gln NC_000003.12:48570466:T:G p.(Lys2460Gln) NC_000003.12:48570466:T:G p.(Lys2460Gln) NC_000003.12:48570466:T:G Identity +NM_001303496.3:c.1345G>A NP_001290425.1:p.Glu449Lys NC_000007.14:93134626:C:T p.(Glu449Lys) NC_000007.14:93134626:C:T p.(Glu449Lys) NC_000007.14:93134626:C:T Identity +NM_004963.4:c.2671A>G NP_004954.2:p.Ile891Val NC_000012.12:14621146:T:C p.(Ile891Val) NC_000012.12:14621146:T:C p.(Ile891Val) NC_000012.12:14621146:T:C Identity +NM_000083.3:c.2565del NP_000074.3:p.Lys856fs NC_000007.14:143350620:GGGG:GGG p.(Lys856SerfsTer67) NC_000007.14:143350620:GGGG:GGG p.(Lys856SerfsTer67) NC_000007.14:143350623:G: Analogous +NM_001135024.2:c.596T>A NP_001128496.2:p.Val199Glu NC_000011.10:34966773:T:A p.(Val199Glu) NC_000011.10:34966773:T:A p.(Val199Glu) NC_000011.10:34966773:T:A Identity +NM_152384.3:c.452A>C NP_689597.1:p.Gln151Pro NC_000002.12:169492938:A:C p.(Gln151Pro) NC_000002.12:169492938:A:C p.(Gln151Pro) NC_000002.12:169492938:A:C Identity +NM_000390.4:c.1343A>G NP_000381.1:p.Gln448Arg NC_000023.11:85901089:T:C p.(Gln448Arg) NC_000023.11:85901089:T:C p.(Gln448Arg) NC_000023.11:85901089:T:C Identity +NM_003907.3:c.1428C>A NP_003898.2:p.Asp476Glu NC_000003.12:184142361:C:A p.(Asp476Glu) NC_000003.12:184142361:C:A p.(Asp476Glu) NC_000003.12:184142361:C:A Identity +NM_000245.4:c.1928G>A NP_000236.2:p.Gly643Asp NC_000007.14:116757501:G:A p.(Gly643Asp) NC_000007.14:116757501:G:A p.(Gly643Asp) NC_000007.14:116757501:G:A Identity +NM_001378355.1:c.1976G>T NP_001365284.1:p.Gly659Val NC_000019.10:49836235:G:T p.(Gly659Val) NC_000019.10:49836235:G:T p.(Gly659Val) NC_000019.10:49836235:G:T Identity +NM_001370534.1:c.967C>G NP_001357463.1:p.Gln323Glu NC_000016.10:74644560:G:C p.(Gln323Glu) NC_000016.10:74644560:G:C p.(Gln323Glu) NC_000016.10:74644560:G:C Identity +NM_001256789.3:c.16G>C NP_001243718.1:p.Gly6Arg NC_000023.11:49233293:C:G p.(Gly6Arg) NC_000023.11:49233293:C:G p.(Gly6Arg) NC_000023.11:49233293:C:G Identity +NM_020207.7:c.4475A>G NP_064592.3:p.Lys1492Arg NC_000009.12:96013024:A:G p.(Lys1492Arg) NC_000009.12:96013024:A:G p.(Lys1492Arg) NC_000009.12:96013024:A:G Identity +NM_014516.4:c.1201G>A NP_055331.1:p.Gly401Ser NC_000019.10:54148453:G:A p.(Gly401Ser) NC_000019.10:54148453:G:A p.(Gly401Ser) NC_000019.10:54148453:G:A Identity +NM_001191028.3:c.1165G>A NP_001177957.2:p.Val389Ile NC_000007.14:128993907:C:T p.(Val389Ile) NC_000007.14:128993907:C:T p.(Val389Ile) NC_000007.14:128993907:C:T Identity +NM_004525.3:c.5561T>C NP_004516.2:p.Ile1854Thr NC_000002.12:169220540:A:G p.(Ile1854Thr) NC_000002.12:169220540:A:G p.(Ile1854Thr) NC_000002.12:169220540:A:G Identity +NM_001321309.2:c.1888C>T NP_001308238.1:p.Gln630Ter NC_000003.12:123701483:G:A p.(Gln630Ter) NC_000003.12:123701483:G:A p.(Gln630Ter) NC_000003.12:123701483:G:A Identity +NM_001008211.1:c.161T>A NP_001008212.1:p.Leu54Gln NC_000010.11:13109282:T:A p.(Leu54Gln) NC_000010.11:13109282:T:A p.(Leu54Gln) NC_000010.11:13109282:T:A Identity +NM_001271933.2:c.4358A>C NP_001258862.1:p.Tyr1453Ser NC_000011.10:117412157:A:C p.(Tyr1453Ser) NC_000011.10:117412157:A:C p.(Tyr1453Ser) NC_000011.10:117412157:A:C Identity +NM_133497.4:c.1171G>A NP_598004.1:p.Ala391Thr NC_000009.12:2718909:G:A p.(Ala391Thr) NC_000009.12:2718909:G:A p.(Ala391Thr) NC_000009.12:2718909:G:A Identity +NM_001161520.2:c.2219G>A NP_001154992.2:p.Gly740Glu NC_000007.14:107211174:C:T p.(Gly740Glu) NC_000007.14:107211174:C:T p.(Gly740Glu) NC_000007.14:107211174:C:T Identity +NM_001349253.2:c.919T>G NP_001336182.1:p.Ser307Ala NC_000003.12:38919974:A:C p.(Ser307Ala) NC_000003.12:38919974:A:C p.(Ser307Ala) NC_000003.12:38919974:A:C Identity +NM_002838.5:c.2979G>C NP_002829.3:p.Met993Ile NC_000001.11:198749455:G:C p.(Met993Ile) NC_000001.11:198749455:G:C p.(Met993Ile) NC_000001.11:198749455:G:C Identity +NM_000093.5:c.1318A>C NP_000084.3:p.Thr440Pro NC_000009.12:134731648:A:C p.(Thr440Pro) NC_000009.12:134731648:A:C p.(Thr440Pro) NC_000009.12:134731648:A:C Identity +NM_014249.4:c.739C>G NP_055064.1:p.Arg247Gly NC_000015.10:71812502:C:G p.(Arg247Gly) NC_000015.10:71812502:C:G p.(Arg247Gly) NC_000015.10:71812502:C:G Identity +NM_000323.2:c.1822A>G NP_000314.1:p.Thr608Ala NC_000010.11:43113617:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001256063.2:c.646C>T NP_001242992.1:p.Pro216Ser NC_000012.12:40929944:C:T p.(Pro216Ser) NC_000012.12:40929944:C:T p.(Pro216Ser) NC_000012.12:40929944:C:T Identity +NM_198506.5:c.1763C>T NP_940908.3:p.Thr588Ile NC_000004.12:109870511:C:T p.(Thr588Ile) NC_000004.12:109870511:C:T p.(Thr588Ile) NC_000004.12:109870511:C:T Identity +NM_001170629.2:c.6358C>T NP_001164100.1:p.Leu2120Phe NC_000014.9:21393215:G:A p.(Leu2120Phe) NC_000014.9:21393215:G:A p.(Leu2120Phe) NC_000014.9:21393215:G:A Identity +NM_001354689.3:c.1954G>A NP_001341618.1:p.Glu652Lys NC_000003.12:12584566:C:T p.(Glu652Lys) NC_000003.12:12584566:C:T p.(Glu652Lys) NC_000003.12:12584566:C:T Identity +NM_001195286.2:c.590T>G NP_001182215.1:p.Phe197Cys NC_000006.12:397207:T:G p.(Phe197Cys) NC_000006.12:397207:T:G p.(Phe197Cys) NC_000006.12:397207:T:G Identity +NM_001440.4:c.223G>A NP_001431.1:p.Glu75Lys NC_000008.11:28716281:G:A p.(Glu75Lys) NC_000008.11:28716281:G:A p.(Glu75Lys) NC_000008.11:28716281:G:A Identity +NM_001290048.2:c.1373T>G NP_001276977.1:p.Met458Arg NC_000011.10:63631151:A:C p.(Met458Arg) NC_000011.10:63631151:A:C p.(Met458Arg) NC_000011.10:63631151:A:C Identity +NM_000186.4:c.2680G>A NP_000177.2:p.Gly894Arg NC_000001.11:196737557:G:A p.(Gly894Arg) NC_000001.11:196737557:G:A p.(Gly894Arg) NC_000001.11:196737557:G:A Identity +NM_001005407.2:c.5639A>G NP_001005407.1:p.Gln1880Arg NC_000016.10:1218420:A:G p.(Gln1880Arg) NC_000016.10:1218420:A:G p.(Gln1880Arg) NC_000016.10:1218420:A:G Identity +NM_001271534.3:c.3658C>T NP_001258463.1:p.Arg1220Ter NC_000021.9:40124232:G:A p.(Arg1220Ter) NC_000021.9:40124232:G:A p.(Arg1220Ter) NC_000021.9:40124232:G:A Identity +NM_001143850.3:c.1778T>C NP_001137322.1:p.Val593Ala NC_000012.12:123706736:T:C p.(Val593Ala) NC_000012.12:123706736:T:C p.(Val593Ala) NC_000012.12:123706736:T:C Identity +NM_001177310.2:c.605T>C NP_001170781.1:p.Ile202Thr NC_000009.12:74834046:A:G p.(Ile202Thr) NC_000009.12:74834046:A:G p.(Ile202Thr) NC_000009.12:74834046:A:G Identity +NM_024494.3:c.67C>T NP_078613.1:p.Pro23Ser NC_000001.11:112509328:C:T p.(Pro23Ser) NC_000001.11:112509328:C:T p.(Pro23Ser) NC_000001.11:112509328:C:T Identity +NM_001330504.2:c.161G>T NP_001317433.1:p.Gly54Val NC_000016.10:5075490:G:T p.(Gly54Val) NC_000016.10:5075490:G:T p.(Gly54Val) NC_000016.10:5075490:G:T Identity +NM_000720.4:c.5569C>G NP_000711.1:p.Pro1857Ala NC_000003.12:53803495:C:G p.(Pro1857Ala) NC_000003.12:53803495:C:G p.(Pro1857Ala) NC_000003.12:53803495:C:G Identity +NM_001349253.2:c.3716A>G NP_001336182.1:p.Asn1239Ser NC_000003.12:38871487:T:C p.(Asn1239Ser) NC_000003.12:38871487:T:C p.(Asn1239Ser) NC_000003.12:38871487:T:C Identity +NM_001286075.2:c.235A>T NP_001273004.1:p.Lys79Ter NC_000016.10:28887253:A:T p.(Lys79Ter) NC_000016.10:28887253:A:T p.(Lys79Ter) NC_000016.10:28887253:A:T Identity +NM_004281.4:c.1492G>T NP_004272.2:p.Ala498Ser NC_000010.11:119677045:G:T p.(Ala498Ser) NC_000010.11:119677045:G:T p.(Ala498Ser) NC_000010.11:119677045:G:T Identity +NM_000158.4:c.2011del NP_000149.4:p.Ser671fs NC_000003.12:81499150:AAAAAAA:AAAAAA p.(Ser671LeufsTer36) NC_000003.12:81499150:AAAAAAA:AAAAAA p.(Ser671LeufsTer36) NC_000003.12:81499150:A: Analogous +NM_001126131.2:c.3650C>G NP_001119603.1:p.Ala1217Gly NC_000015.10:89316820:G:C p.(Ala1217Gly) NC_000015.10:89316820:G:C p.(Ala1217Gly) NC_000015.10:89316820:G:C Identity +NM_006623.4:c.851T>C NP_006614.2:p.Leu284Pro NC_000001.11:119737171:T:C p.(Leu284Pro) NC_000001.11:119737171:T:C p.(Leu284Pro) NC_000001.11:119737171:T:C Identity +NM_001243571.2:c.536C>T NP_001230500.1:p.Pro179Leu NC_000011.10:95850651:G:A p.(Pro179Leu) NC_000011.10:95850651:G:A p.(Pro179Leu) NC_000011.10:95850651:G:A Identity +NM_001305275.2:c.928T>C NP_001292204.1:p.Phe310Leu NC_000001.11:1041372:T:C p.(Phe310Leu) NC_000001.11:1041372:T:C p.(Phe310Leu) NC_000001.11:1041372:T:C Identity +NM_002772.3:c.670G>A NP_002763.3:p.Val224Ile NC_000021.9:18365242:C:T p.(Val224Ile) NC_000021.9:18365242:C:T p.(Val224Ile) NC_000021.9:18365242:C:T Identity +NM_000520.6:c.926G>C NP_000511.2:p.Ser309Thr NC_000015.10:72349138:C:G p.(Ser309Thr) NC_000015.10:72349138:C:G p.(Ser309Thr) NC_000015.10:72349138:C:G Identity +NM_001286577.2:c.6406G>A NP_001273506.1:p.Ala2136Thr NC_000011.10:74033753:C:T p.(Ala2136Thr) NC_000011.10:74033753:C:T p.(Ala2136Thr) NC_000011.10:74033753:C:T Identity +NM_001377263.1:c.218G>A NP_001364192.1:p.Arg73Gln NC_000011.10:73964934:G:A p.(Arg73Gln) NC_000011.10:73964934:G:A p.(Arg73Gln) NC_000011.10:73964934:G:A Identity +NM_001166496.2:c.494A>G NP_001159968.1:p.Asn165Ser NC_000001.11:112917911:T:C p.(Asn165Ser) NC_000001.11:112917911:T:C p.(Asn165Ser) NC_000001.11:112917911:T:C Identity +NM_001376.5:c.26G>A NP_001367.2:p.Gly9Asp NC_000014.9:101964716:G:A p.(Gly9Asp) NC_000014.9:101964716:G:A p.(Gly9Asp) NC_000014.9:101964716:G:A Identity +NM_024312.5:c.871G>A NP_077288.2:p.Asp291Asn NC_000012.12:101771057:C:T p.(Asp291Asn) NC_000012.12:101771057:C:T p.(Asp291Asn) NC_000012.12:101771057:C:T Identity +NM_022168.4:c.1013T>C NP_071451.2:p.Val338Ala NC_000002.12:162288216:A:G p.(Val338Ala) NC_000002.12:162288216:A:G p.(Val338Ala) NC_000002.12:162288216:A:G Identity +NM_001193644.1:c.128C>T NP_001180573.1:p.Thr43Met NC_000001.11:160283581:G:A p.(Thr43Met) NC_000001.11:160283581:G:A p.(Thr43Met) NC_000001.11:160283581:G:A Identity +NM_000742.4:c.844C>T NP_000733.2:p.Leu282Phe NC_000008.11:27463598:G:A p.(Leu282Phe) NC_000008.11:27463598:G:A p.(Leu282Phe) NC_000008.11:27463598:G:A Identity +NM_001365819.1:c.2666G>T NP_001352748.1:p.Arg889Leu NC_000022.11:50461698:C:A p.(Arg889Leu) NC_000022.11:50461698:C:A p.(Arg889Leu) NC_000022.11:50461698:C:A Identity +NM_006445.4:c.4793A>T NP_006436.3:p.Asp1598Val NC_000017.11:1659993:T:A p.(Asp1598Val) NC_000017.11:1659993:T:A p.(Asp1598Val) NC_000017.11:1659993:T:A Identity +NM_020461.4:c.920G>T NP_065194.3:p.Arg307Ile NC_000022.11:50233511:C:A p.(Arg307Ile) NC_000022.11:50233511:C:A p.(Arg307Ile) NC_000022.11:50233511:C:A Identity +NM_001303110.2:c.64C>T NP_001290039.1:p.His22Tyr NC_000013.11:110306963:G:A p.(His22Tyr) NC_000013.11:110306963:G:A p.(His22Tyr) NC_000013.11:110306963:G:A Identity +NM_001134774.2:c.10A>T NP_001128246.1:p.Met4Leu NC_000011.10:66258603:A:T p.(Met4Leu) NC_000011.10:66258603:A:T p.(Met4Leu) NC_000011.10:66258603:A:T Identity +NM_001282237.2:c.1797G>T NP_001269166.1:p.Glu599Asp NC_000014.9:99175035:C:A p.(Glu599Asp) NC_000014.9:99175035:C:A p.(Glu599Asp) NC_000014.9:99175035:C:A Identity +NM_001348182.2:c.4A>G NP_001335111.1:p.Met2Val NC_000002.12:24328078:T:C p.(Met2Val) NC_000002.12:24328078:T:C p.(Met2Val) NC_000002.12:24328078:T:C Identity +NM_000053.4:c.40G>A NP_000044.2:p.Ala14Thr NC_000013.11:52011297:C:T p.(Ala14Thr) NC_000013.11:52011297:C:T p.(Ala14Thr) NC_000013.11:52011297:C:T Identity +NM_145290.4:c.1547A>G NP_660333.2:p.Gln516Arg NC_000004.12:22424248:T:C p.(Gln516Arg) NC_000004.12:22424248:T:C p.(Gln516Arg) NC_000004.12:22424248:T:C Identity +NM_001144996.2:c.1786A>C NP_001138468.1:p.Thr596Pro NC_000012.12:55696395:T:G p.(Thr596Pro) NC_000012.12:55696395:T:G p.(Thr596Pro) NC_000012.12:55696395:T:G Identity +NM_000063.6:c.1869C>A NP_000054.2:p.Ser623Arg NC_000006.12:31944192:C:A p.(Ser623Arg) NC_000006.12:31944192:C:A p.(Ser623Arg) NC_000006.12:31944192:C:A Identity +NM_001367830.1:c.4296G>C NP_001354759.1:p.Glu1432Asp NC_000019.10:11214564:C:G p.(Glu1432Asp) NC_000019.10:11214564:C:G p.(Glu1432Asp) NC_000019.10:11214564:C:G Identity +NM_000039.3:c.516G>T NP_000030.1:p.Met172Ile NC_000011.10:116836095:C:A p.(Met172Ile) NC_000011.10:116836095:C:A p.(Met172Ile) NC_000011.10:116836095:C:A Identity +NM_001077397.1:c.274C>T NP_001070865.1:p.Leu92Phe NC_000001.11:234609220:G:A p.(Leu92Phe) NC_000001.11:234609220:G:A p.(Leu92Phe) NC_000001.11:234609220:G:A Identity +NM_001144769.5:c.11141T>C NP_001138241.1:p.Leu3714Pro NC_000006.12:56529544:A:G p.(Leu3714Pro) NC_000006.12:56529544:A:G p.(Leu3714Pro) NC_000006.12:56529544:A:G Identity +NM_020435.4:c.641T>C NP_065168.2:p.Val214Ala NC_000001.11:228158398:T:C p.(Val214Ala) NC_000001.11:228158398:T:C p.(Val214Ala) NC_000001.11:228158398:T:C Identity +NM_001166159.2:c.1342G>A NP_001159631.1:p.Val448Ile NC_000001.11:161213908:G:A p.(Val448Ile) NC_000001.11:161213908:G:A p.(Val448Ile) NC_000001.11:161213908:G:A Identity +NM_001350912.2:c.1117C>T NP_001337841.1:p.Arg373Ter NC_000012.12:21468580:C:T p.(Arg373Ter) NC_000012.12:21468580:C:T p.(Arg373Ter) NC_000012.12:21468580:C:T Identity +NM_000081.4:c.2368A>G NP_000072.2:p.Ile790Val NC_000001.11:235806767:T:C p.(Ile790Val) NC_000001.11:235806767:T:C p.(Ile790Val) NC_000001.11:235806767:T:C Identity +NM_002076.4:c.1414dup NP_002067.1:p.Gln472fs NC_000012.12:64721599:GG:GGG p.(Gln472ProfsTer9) NC_000012.12:64721599:GG:GGG p.(Gln472ProfsTer9) ERR:SPDI Analogous +NM_001145770.3:c.279C>A NP_001139242.1:p.Tyr93Ter NC_000016.10:57651413:C:A p.(Tyr93Ter) NC_000016.10:57651413:C:A p.(Tyr93Ter) NC_000016.10:57651413:C:A Identity +NM_001127493.3:c.4444A>G NP_001120965.1:p.Ile1482Val NC_000004.12:113360866:A:G p.(Ile1482Val) NC_000004.12:113360866:A:G p.(Ile1482Val) NC_000004.12:113360866:A:G Identity +NM_033100.4:c.2185A>G NP_149091.1:p.Lys729Glu NC_000010.11:84214225:A:G p.(Lys729Glu) NC_000010.11:84214225:A:G p.(Lys729Glu) NC_000010.11:84214225:A:G Identity +NM_001008844.3:c.4688T>C NP_001008844.1:p.Leu1563Pro NC_000006.12:7583746:T:C p.(Leu1563Pro) NC_000006.12:7583746:T:C p.(Leu1563Pro) NC_000006.12:7583746:T:C Identity +NM_000111.3:c.296A>C NP_000102.1:p.Asp99Ala NC_000007.14:107791915:T:G p.(Asp99Ala) NC_000007.14:107791915:T:G p.(Asp99Ala) NC_000007.14:107791915:T:G Identity +NM_000784.4:c.1247T>C NP_000775.1:p.Phe416Ser NC_000002.12:218814441:T:C p.(Phe416Ser) NC_000002.12:218814441:T:C p.(Phe416Ser) NC_000002.12:218814441:T:C Identity +NM_001145847.2:c.2392C>T NP_001139319.1:p.Pro798Ser NC_000004.12:15980491:G:A p.(Pro798Ser) NC_000004.12:15980491:G:A p.(Pro798Ser) NC_000004.12:15980491:G:A Identity +NM_001267578.2:c.773T>C NP_001254507.1:p.Ile258Thr NC_000001.11:179903995:T:C p.(Ile258Thr) NC_000001.11:179903995:T:C p.(Ile258Thr) NC_000001.11:179903995:T:C Identity +NM_001011649.3:c.2258A>G NP_001011649.1:p.Glu753Gly NC_000009.12:120458566:T:C p.(Glu753Gly) NC_000009.12:120458566:T:C p.(Glu753Gly) NC_000009.12:120458566:T:C Identity +NM_001379277.1:c.4054C>G NP_001366206.1:p.Gln1352Glu NC_000007.14:92093146:C:G p.(Gln1352Glu) NC_000007.14:92093146:C:G p.(Gln1352Glu) NC_000007.14:92093146:C:G Identity +NM_001365999.1:c.8839C>T NP_001352928.1:p.Arg2947Trp NC_000001.11:43445906:C:T p.(Arg2947Trp) NC_000001.11:43445906:C:T p.(Arg2947Trp) NC_000001.11:43445906:C:T Identity +NM_001143885.2:c.2426C>T NP_001137357.1:p.Ala809Val NC_000012.12:79796816:G:A p.(Ala809Val) NC_000012.12:79796816:G:A p.(Ala809Val) NC_000012.12:79796816:G:A Identity +NM_001350529.1:c.1213G>T NP_001337458.1:p.Gly405Trp NC_000001.11:150344524:G:T p.(Gly405Trp) NC_000001.11:150344524:G:T p.(Gly405Trp) NC_000001.11:150344524:G:T Identity +NM_003764.4:c.90C>A NP_003755.2:p.His30Gln NC_000006.12:144186716:C:A p.(His30Gln) NC_000006.12:144186716:C:A p.(His30Gln) NC_000006.12:144186716:C:A Identity +NM_001012505.2:c.121A>G NP_001012523.1:p.Thr41Ala NC_000003.12:71198260:T:C p.(Thr41Ala) NC_000003.12:71198260:T:C p.(Thr41Ala) NC_000003.12:71198260:T:C Identity +NM_001288653.2:c.4694A>G NP_001275582.1:p.Glu1565Gly NC_000017.11:59685662:A:G p.(Glu1565Gly) NC_000017.11:59685662:A:G p.(Glu1565Gly) NC_000017.11:59685662:A:G Identity +NM_015160.3:c.176T>C NP_055975.1:p.Val59Ala NC_000009.12:136412100:T:C p.(Val59Ala) NC_000009.12:136412100:T:C p.(Val59Ala) NC_000009.12:136412100:T:C Identity +NM_001163435.3:c.810C>G NP_001156907.2:p.Asp270Glu NC_000004.12:106247259:G:C p.(Asp270Glu) NC_000004.12:106247259:G:C p.(Asp270Glu) NC_000004.12:106247259:G:C Identity +NM_001410876.1:c.985G>A NP_001397805.1:p.Ala329Thr NC_000006.12:35458311:G:A p.(Ala329Thr) NC_000006.12:35458311:G:A p.(Ala329Thr) NC_000006.12:35458311:G:A Identity +NM_000293.3:c.80C>T NP_000284.1:p.Ser27Leu NC_000016.10:47497401:C:T p.(Ser27Leu) NC_000016.10:47497401:C:T p.(Ser27Leu) NC_000016.10:47497401:C:T Identity +NM_001178074.2:c.944C>G NP_001171545.1:p.Ala315Gly NC_000012.12:66463021:G:C p.(Ala315Gly) NC_000012.12:66463021:G:C p.(Ala315Gly) NC_000012.12:66463021:G:C Identity +NM_001033054.3:c.246C>A NP_001028226.1:p.His82Gln NC_000017.11:6433948:G:T p.(His82Gln) NC_000017.11:6433948:G:T p.(His82Gln) NC_000017.11:6433948:G:T Identity +NM_000720.4:c.1174C>T NP_000711.1:p.Leu392Phe NC_000003.12:53673769:C:T p.(Leu392Phe) NC_000003.12:53673769:C:T p.(Leu392Phe) NC_000003.12:53673769:C:T Identity +NM_001350914.2:c.2515A>G NP_001337843.1:p.Ile839Val NC_000007.14:158934423:A:G p.(Ile839Val) NC_000007.14:158934423:A:G p.(Ile839Val) NC_000007.14:158934423:A:G Identity +NM_000701.8:c.538A>G NP_000692.2:p.Ile180Val NC_000001.11:116388673:A:G p.(Ile180Val) NC_000001.11:116388673:A:G p.(Ile180Val) NC_000001.11:116388673:A:G Identity +NM_003482.4:c.1667C>A NP_003473.3:p.Pro556Gln NC_000012.12:49052015:G:T p.(Pro556Gln) NC_000012.12:49052015:G:T p.(Pro556Gln) NC_000012.12:49052015:G:T Identity +NM_012079.6:c.509C>T NP_036211.2:p.Ala170Val NC_000008.11:144318525:G:A p.(Ala170Val) NC_000008.11:144318525:G:A p.(Ala170Val) NC_000008.11:144318525:G:A Identity +NM_001177316.2:c.527T>A NP_001170787.2:p.Met176Lys NC_000009.12:137233081:T:A p.(Met176Lys) NC_000009.12:137233081:T:A p.(Met176Lys) NC_000009.12:137233081:T:A Identity +NM_018026.4:c.1835G>A NP_060496.2:p.Arg612His NC_000011.10:66233062:G:A p.(Arg612His) NC_000011.10:66233062:G:A p.(Arg612His) NC_000011.10:66233062:G:A Identity +NM_001164507.2:c.1750G>T NP_001157979.2:p.Ala584Ser NC_000002.12:151694553:C:A p.(Ala584Ser) NC_000002.12:151694553:C:A p.(Ala584Ser) NC_000002.12:151694553:C:A Identity +NM_001258206.2:c.892G>A NP_001245135.1:p.Ala298Thr NC_000019.10:6826675:G:A p.(Ala298Thr) NC_000019.10:6826675:G:A p.(Ala298Thr) NC_000019.10:6826675:G:A Identity +NM_001376.5:c.8013G>A NP_001367.2:p.Met2671Ile NC_000014.9:102017251:G:A p.(Met2671Ile) NC_000014.9:102017251:G:A p.(Met2671Ile) NC_000014.9:102017251:G:A Identity +NM_001129.5:c.2363C>T NP_001120.3:p.Ala788Val NC_000007.14:44112702:C:T p.(Ala788Val) NC_000007.14:44112702:C:T p.(Ala788Val) NC_000007.14:44112702:C:T Identity +NM_001261406.2:c.5393T>C NP_001248335.1:p.Phe1798Ser NC_000009.12:13113995:A:G p.(Phe1798Ser) NC_000009.12:13113995:A:G p.(Phe1798Ser) NC_000009.12:13113995:A:G Identity +NM_002156.5:c.655T>G NP_002147.2:p.Phe219Val NC_000002.12:197494201:A:C p.(Phe219Val) NC_000002.12:197494201:A:C p.(Phe219Val) NC_000002.12:197494201:A:C Identity +NM_001410876.1:c.789G>C NP_001397805.1:p.Glu263Asp NC_000006.12:35456286:G:C p.(Glu263Asp) NC_000006.12:35456286:G:C p.(Glu263Asp) NC_000006.12:35456286:G:C Identity +NM_001105540.2:c.2794G>A NP_001099010.1:p.Ala932Thr NC_000011.10:46377099:G:A p.(Ala932Thr) NC_000011.10:46377099:G:A p.(Ala932Thr) NC_000011.10:46377099:G:A Identity +NM_001184985.2:c.4856C>A NP_001171914.1:p.Thr1619Lys NC_000012.12:884879:C:A p.(Thr1619Lys) NC_000012.12:884879:C:A p.(Thr1619Lys) NC_000012.12:884879:C:A Identity +NM_001321080.2:c.23T>C NP_001308009.1:p.Leu8Pro NC_000006.12:104859619:A:G p.(Leu8Pro) NC_000006.12:104859619:A:G p.(Leu8Pro) NC_000006.12:104859619:A:G Identity +NM_001282782.2:c.699_702dup NP_001269711.1:p.Asp235fs NC_000022.11:46356007:TCAATCAA:TCAATCAATCAA p.(Asp235SerfsTer58) NC_000022.11:46356007:TCAATCAA:TCAATCAATCAA p.(Asp235SerfsTer58) ERR:SPDI Analogous +NM_000135.4:c.605A>G NP_000126.2:p.Asp202Gly NC_000016.10:89805383:T:C p.(Asp202Gly) NC_000016.10:89805383:T:C p.(Asp202Gly) NC_000016.10:89805383:T:C Identity +NM_173630.4:c.1625G>A NP_775901.3:p.Arg542Gln NC_000018.10:70168918:C:T p.(Arg542Gln) NC_000018.10:70168918:C:T p.(Arg542Gln) NC_000018.10:70168918:C:T Identity +NM_002772.3:c.2297A>G NP_002763.3:p.Gln766Arg NC_000021.9:18294616:T:C p.(Gln766Arg) NC_000021.9:18294616:T:C p.(Gln766Arg) NC_000021.9:18294616:T:C Identity +NM_001369.3:c.898C>A NP_001360.1:p.Leu300Ile NC_000005.10:13919252:G:T p.(Leu300Ile) NC_000005.10:13919252:G:T p.(Leu300Ile) NC_000005.10:13919252:G:T Identity +NM_000282.4:c.290A>G NP_000273.2:p.Asp97Gly NC_000013.11:100112050:A:G p.(Asp97Gly) NC_000013.11:100112050:A:G p.(Asp97Gly) NC_000013.11:100112050:A:G Identity +NM_003630.3:c.857G>A NP_003621.1:p.Arg286Gln NC_000006.12:143479113:G:A p.(Arg286Gln) NC_000006.12:143479113:G:A p.(Arg286Gln) NC_000006.12:143479113:G:A Identity +NM_001363823.2:c.418C>G NP_001350752.1:p.Gln140Glu NC_000002.12:32087496:C:G p.(Gln140Glu) NC_000002.12:32087496:C:G p.(Gln140Glu) NC_000002.12:32087496:C:G Identity +NM_001853.4:c.908C>T NP_001844.3:p.Pro303Leu NC_000020.11:62828770:C:T p.(Pro303Leu) NC_000020.11:62828770:C:T p.(Pro303Leu) NC_000020.11:62828770:C:T Identity +NM_000180.4:c.3265G>C NP_000171.1:p.Glu1089Gln NC_000017.11:8016482:G:C p.(Glu1089Gln) NC_000017.11:8016482:G:C p.(Glu1089Gln) NC_000017.11:8016482:G:C Identity +NM_001127713.1:c.741T>G NP_001121185.1:p.His247Gln NC_000014.9:50614389:T:G p.(His247Gln) NC_000014.9:50614389:T:G p.(His247Gln) NC_000014.9:50614389:T:G Identity +NM_144773.4:c.202G>A NP_658986.1:p.Gly68Ser NC_000020.11:5314167:C:T p.(Gly68Ser) NC_000020.11:5314167:C:T p.(Gly68Ser) NC_000020.11:5314167:C:T Identity +NM_001172631.3:c.1610T>C NP_001166102.1:p.Val537Ala NC_000014.9:102434426:T:C p.(Val537Ala) NC_000014.9:102434426:T:C p.(Val537Ala) NC_000014.9:102434426:T:C Identity +NM_014714.4:c.2764A>G NP_055529.2:p.Ser922Gly NC_000016.10:1525890:T:C p.(Ser922Gly) NC_000016.10:1525890:T:C p.(Ser922Gly) NC_000016.10:1525890:T:C Identity +NM_000059.4:c.5681_5682dup NP_000050.3:p.Glu1895fs NC_000013.11:32340035:AC:ACAC p.(Glu1895ThrfsTer15) NC_000013.11:32340035:AC:ACAC p.(Glu1895ThrfsTer15) ERR:SPDI Analogous +NM_024700.4:c.785A>T NP_078976.2:p.Tyr262Phe NC_000001.11:37540297:T:A p.(Tyr262Phe) NC_000001.11:37540297:T:A p.(Tyr262Phe) NC_000001.11:37540297:T:A Identity +NM_207352.4:c.512del NP_997235.3:p.Asn171fs NC_000004.12:186197035:AAA:AA p.(Asn171IlefsTer27) NC_000004.12:186197035:AAA:AA p.(Asn171IlefsTer27) NC_000004.12:186197037:A: Analogous +NM_025114.4:c.5899A>G NP_079390.3:p.Thr1967Ala NC_000012.12:88071405:T:C p.(Thr1967Ala) NC_000012.12:88071405:T:C p.(Thr1967Ala) NC_000012.12:88071405:T:C Identity +NM_001206524.2:c.998C>T NP_001193453.1:p.Ala333Val NC_000002.12:201209345:C:T p.(Ala333Val) NC_000002.12:201209345:C:T p.(Ala333Val) NC_000002.12:201209345:C:T Identity +NM_001351018.2:c.1306C>A NP_001337947.1:p.Leu436Met NC_000012.12:122235886:G:T p.(Leu436Met) NC_000012.12:122235886:G:T p.(Leu436Met) NC_000012.12:122235886:G:T Identity +NM_001142929.2:c.1423G>A NP_001136401.2:p.Ala475Thr NC_000010.11:49655385:G:A p.(Ala475Thr) NC_000010.11:49655385:G:A p.(Ala475Thr) NC_000010.11:49655385:G:A Identity +NM_000095.3:c.920G>C NP_000086.2:p.Gly307Ala NC_000019.10:18788266:C:G p.(Gly307Ala) NC_000019.10:18788266:C:G p.(Gly307Ala) NC_000019.10:18788266:C:G Identity +NM_000417.3:c.356C>T NP_000408.1:p.Ala119Val NC_000010.11:6024254:G:A p.(Ala119Val) NC_000010.11:6024254:G:A p.(Ala119Val) NC_000010.11:6024254:G:A Identity +NM_001042663.3:c.3055A>G NP_001036128.2:p.Lys1019Glu NC_000001.11:6467891:T:C p.(Lys1019Glu) NC_000001.11:6467891:T:C p.(Lys1019Glu) NC_000001.11:6467891:T:C Identity +NM_002470.4:c.5740G>A NP_002461.2:p.Ala1914Thr NC_000017.11:10629652:C:T p.(Ala1914Thr) NC_000017.11:10629652:C:T p.(Ala1914Thr) NC_000017.11:10629652:C:T Identity +NM_003922.4:c.7079C>A NP_003913.3:p.Thr2360Asn NC_000015.10:63675108:G:T p.(Thr2360Asn) NC_000015.10:63675108:G:T p.(Thr2360Asn) NC_000015.10:63675108:G:T Identity +NM_001349253.2:c.151C>T NP_001336182.1:p.Arg51Trp NC_000003.12:38950211:G:A p.(Arg51Trp) NC_000003.12:38950211:G:A p.(Arg51Trp) NC_000003.12:38950211:G:A Identity +NM_005559.4:c.3647C>T NP_005550.2:p.Pro1216Leu NC_000018.10:7011339:G:A p.(Pro1216Leu) NC_000018.10:7011339:G:A p.(Pro1216Leu) NC_000018.10:7011339:G:A Identity +NM_015346.4:c.6521T>C NP_056161.2:p.Leu2174Pro NC_000014.9:67761432:A:G p.(Leu2174Pro) NC_000014.9:67761432:A:G p.(Leu2174Pro) NC_000014.9:67761432:A:G Identity +NM_001198842.2:c.481A>C NP_001185771.1:p.Ser161Arg NC_000012.12:69589659:A:C p.(Ser161Arg) NC_000012.12:69589659:A:C p.(Ser161Arg) NC_000012.12:69589659:A:C Identity +NM_001306129.2:c.2032G>A NP_001293058.2:p.Glu678Lys NC_000002.12:215410023:C:T p.(Glu678Lys) NC_000002.12:215410023:C:T p.(Glu678Lys) NC_000002.12:215410023:C:T Identity +NM_001410754.1:c.442C>A NP_001397683.1:p.His148Asn NC_000005.10:93588344:C:A p.(His148Asn) NC_000005.10:93588344:C:A p.(His148Asn) NC_000005.10:93588344:C:A Identity +NM_033071.5:c.12701A>T NP_149062.2:p.His4234Leu NC_000006.12:152331770:T:A p.(His4234Leu) NC_000006.12:152331770:T:A p.(His4234Leu) NC_000006.12:152331770:T:A Identity +NM_001079821.3:c.800A>G NP_001073289.2:p.Gln267Arg NC_000001.11:247424248:A:G p.(Gln267Arg) NC_000001.11:247424248:A:G p.(Gln267Arg) NC_000001.11:247424248:A:G Identity +NM_001136138.4:c.1885G>T NP_001129610.1:p.Ala629Ser NC_000001.11:213241396:G:T p.(Ala629Ser) NC_000001.11:213241396:G:T p.(Ala629Ser) NC_000001.11:213241396:G:T Identity +NM_001004426.3:c.1939G>T NP_001004426.1:p.Val647Leu NC_000022.11:38113587:C:A p.(Val647Leu) NC_000022.11:38113587:C:A p.(Val647Leu) NC_000022.11:38113587:C:A Identity +NM_001410858.1:c.7172A>G NP_001397787.1:p.Asn2391Ser NC_000018.10:45858619:T:C p.(Asn2391Ser) NC_000018.10:45858619:T:C p.(Asn2391Ser) NC_000018.10:45858619:T:C Identity +NM_001384880.1:c.1807G>A NP_001371809.1:p.Gly603Arg NC_000002.12:190978861:C:T p.(Gly603Arg) NC_000002.12:190978861:C:T p.(Gly603Arg) NC_000002.12:190978861:C:T Identity +NM_006662.3:c.3024_3026del NP_006653.2:p.Val1012del NC_000016.10:30720748:AGT: p.(Val1012del) NC_000016.10:30720748:AGT: p.(Val1012del) NC_000016.10:30720748:AGT: Identity +NM_001317924.2:c.2660C>A NP_001304853.1:p.Pro887Gln NC_000004.12:39257510:C:A p.(Pro887Gln) NC_000004.12:39257510:C:A p.(Pro887Gln) NC_000004.12:39257510:C:A Identity +NM_000346.4:c.785G>T NP_000337.1:p.Gly262Val NC_000017.11:72123641:G:T p.(Gly262Val) NC_000017.11:72123641:G:T p.(Gly262Val) NC_000017.11:72123641:G:T Identity +NM_001165412.2:c.1819G>A NP_001158884.1:p.Asp607Asn NC_000004.12:102606564:G:A p.(Asp607Asn) NC_000004.12:102606564:G:A p.(Asp607Asn) NC_000004.12:102606564:G:A Identity +NM_001278268.2:c.1307G>C NP_001265197.1:p.Arg436Pro NC_000018.10:62369265:G:C p.(Arg436Pro) NC_000018.10:62369265:G:C p.(Arg436Pro) NC_000018.10:62369265:G:C Identity +NM_198407.2:c.1065T>A NP_940799.1:p.Ser355Arg NC_000003.12:172445196:A:T p.(Ser355Arg) NC_000003.12:172445196:A:T p.(Ser355Arg) NC_000003.12:172445196:A:T Identity +NM_001068.3:c.2983C>G NP_001059.2:p.Gln995Glu NC_000003.12:25619926:G:C p.(Gln995Glu) NC_000003.12:25619926:G:C p.(Gln995Glu) NC_000003.12:25619926:G:C Identity +NM_005045.4:c.2759T>C NP_005036.2:p.Met920Thr NC_000007.14:103611746:A:G p.(Met920Thr) NC_000007.14:103611746:A:G p.(Met920Thr) NC_000007.14:103611746:A:G Identity +NM_020433.5:c.1573A>G NP_065166.2:p.Thr525Ala NC_000020.11:44116101:T:C p.(Thr525Ala) NC_000020.11:44116101:T:C p.(Thr525Ala) NC_000020.11:44116101:T:C Identity +NM_001346897.2:c.2691T>A NP_001333826.1:p.Asp897Glu NC_000007.14:55198840:T:A p.(Asp897Glu) NC_000007.14:55198840:T:A p.(Asp897Glu) NC_000007.14:55198840:T:A Identity +NM_000532.5:c.68C>T NP_000523.2:p.Ala23Val NC_000003.12:136250442:C:T p.(Ala23Val) NC_000003.12:136250442:C:T p.(Ala23Val) NC_000003.12:136250442:C:T Identity +NM_012079.6:c.1085G>A NP_036211.2:p.Arg362Gln NC_000008.11:144317341:C:T p.(Arg362Gln) NC_000008.11:144317341:C:T p.(Arg362Gln) NC_000008.11:144317341:C:T Identity +NM_001134363.3:c.3649G>C NP_001127835.2:p.Gly1217Arg NC_000010.11:110835942:G:C p.(Gly1217Arg) NC_000010.11:110835942:G:C p.(Gly1217Arg) NC_000010.11:110835942:G:C Identity +NM_006662.3:c.8518A>T NP_006653.2:p.Ser2840Cys NC_000016.10:30738557:A:T p.(Ser2840Cys) NC_000016.10:30738557:A:T p.(Ser2840Cys) NC_000016.10:30738557:A:T Identity +NM_000249.4:c.1837_1840del NP_000240.1:p.Glu613fs NC_000003.12:37047622:TGAGT:T p.(Glu613PhefsTer2) NC_000003.12:37047622:TGAGT:T p.(Glu613PhefsTer2) NC_000003.12:37047623:GAGT: Analogous +NM_001411101.1:c.2338G>A NP_001398030.1:p.Gly780Ser NC_000017.11:82926408:G:A p.(Gly780Ser) NC_000017.11:82926408:G:A p.(Gly780Ser) NC_000017.11:82926408:G:A Identity +NM_001163435.3:c.793G>A NP_001156907.2:p.Asp265Asn NC_000004.12:106247276:C:T p.(Asp265Asn) NC_000004.12:106247276:C:T p.(Asp265Asn) NC_000004.12:106247276:C:T Identity +NM_000520.6:c.1165A>G NP_000511.2:p.Ile389Val NC_000015.10:72346691:T:C p.(Ile389Val) NC_000015.10:72346691:T:C p.(Ile389Val) NC_000015.10:72346691:T:C Identity +NM_001290184.2:c.1499G>A NP_001277113.1:p.Arg500His NC_000001.11:160356266:G:A p.(Arg500His) NC_000001.11:160356266:G:A p.(Arg500His) NC_000001.11:160356266:G:A Identity +NM_001177716.2:c.224C>T NP_001171187.1:p.Pro75Leu NC_000002.12:10046381:C:T p.(Pro75Leu) NC_000002.12:10046381:C:T p.(Pro75Leu) NC_000002.12:10046381:C:T Identity +NM_001083961.2:c.40G>T NP_001077430.1:p.Ala14Ser NC_000019.10:36055010:G:T p.(Ala14Ser) NC_000019.10:36055010:G:T p.(Ala14Ser) NC_000019.10:36055010:G:T Identity +NM_001134363.3:c.2126A>G NP_001127835.2:p.His709Arg NC_000010.11:110812522:A:G p.(His709Arg) NC_000010.11:110812522:A:G p.(His709Arg) NC_000010.11:110812522:A:G Identity +NM_001184720.2:c.820G>A NP_001171649.1:p.Val274Ile NC_000003.12:149024263:G:A p.(Val274Ile) NC_000003.12:149024263:G:A p.(Val274Ile) NC_000003.12:149024263:G:A Identity +NM_001303458.3:c.964C>T NP_001290387.1:p.Leu322Phe NC_000020.11:43635965:C:T p.(Leu322Phe) NC_000020.11:43635965:C:T p.(Leu322Phe) NC_000020.11:43635965:C:T Identity +NM_001305275.2:c.2083G>C NP_001292204.1:p.Asp695His NC_000001.11:1044191:G:C p.(Asp695His) NC_000001.11:1044191:G:C p.(Asp695His) NC_000001.11:1044191:G:C Identity +NM_003227.4:c.334G>A NP_003218.2:p.Gly112Arg NC_000007.14:100640824:C:T p.(Gly112Arg) NC_000007.14:100640824:C:T p.(Gly112Arg) NC_000007.14:100640824:C:T Identity +NM_001291285.3:c.6800A>G NP_001278214.1:p.Asn2267Ser NC_000004.12:125415762:A:G p.(Asn2267Ser) NC_000004.12:125415762:A:G p.(Asn2267Ser) NC_000004.12:125415762:A:G Identity +NM_001031714.4:c.1894T>C NP_001026884.3:p.Phe632Leu NC_000014.9:104708676:T:C p.(Phe632Leu) NC_000014.9:104708676:T:C p.(Phe632Leu) NC_000014.9:104708676:T:C Identity +NM_014714.4:c.2129G>T NP_055529.2:p.Ser710Ile NC_000016.10:1562054:C:A p.(Ser710Ile) NC_000016.10:1562054:C:A p.(Ser710Ile) NC_000016.10:1562054:C:A Identity +NM_001142929.2:c.65A>C NP_001136401.2:p.Gln22Pro NC_000010.11:49619755:A:C p.(Gln22Pro) NC_000010.11:49619755:A:C p.(Gln22Pro) NC_000010.11:49619755:A:C Identity +NM_002296.4:c.292G>T NP_002287.2:p.Ala98Ser NC_000001.11:225422150:C:A p.(Ala98Ser) NC_000001.11:225422150:C:A p.(Ala98Ser) NC_000001.11:225422150:C:A Identity +NM_004463.3:c.46G>C NP_004454.2:p.Glu16Gln NC_000023.11:54495386:C:G p.(Glu16Gln) NC_000023.11:54495386:C:G p.(Glu16Gln) NC_000023.11:54495386:C:G Identity +NM_001355186.2:c.727G>C NP_001342115.1:p.Asp243His NC_000003.12:43715011:G:C p.(Asp243His) NC_000003.12:43715011:G:C p.(Asp243His) NC_000003.12:43715011:G:C Identity +NM_001080463.2:c.9409G>T NP_001073932.1:p.Val3137Phe NC_000011.10:103231314:G:T p.(Val3137Phe) NC_000011.10:103231314:G:T p.(Val3137Phe) NC_000011.10:103231314:G:T Identity +NM_000404.4:c.670C>G NP_000395.3:p.His224Asp NC_000003.12:33058151:G:C p.(His224Asp) NC_000003.12:33058151:G:C p.(His224Asp) NC_000003.12:33058151:G:C Identity +NM_001017423.2:c.140C>T NP_001017423.1:p.Pro47Leu NC_000010.11:95643154:G:A p.(Pro47Leu) NC_000010.11:95643154:G:A p.(Pro47Leu) NC_000010.11:95643154:G:A Identity +NM_001040428.4:c.304G>A NP_001035518.1:p.Asp102Asn NC_000014.9:88426258:G:A p.(Asp102Asn) NC_000014.9:88426258:G:A p.(Asp102Asn) NC_000014.9:88426258:G:A Identity +NM_001351527.2:c.4582A>G NP_001338456.1:p.Thr1528Ala NC_000009.12:132327015:T:C p.(Thr1528Ala) NC_000009.12:132327015:T:C p.(Thr1528Ala) NC_000009.12:132327015:T:C Identity +NM_001330360.2:c.368A>G NP_001317289.1:p.Asn123Ser NC_000023.11:24714574:A:G p.(Asn123Ser) NC_000023.11:24714574:A:G p.(Asn123Ser) NC_000023.11:24714574:A:G Identity +NM_001122670.2:c.2756G>A NP_001116142.1:p.Arg919Gln NC_000023.11:72605329:C:T p.(Arg919Gln) NC_000023.11:72605329:C:T p.(Arg919Gln) NC_000023.11:72605329:C:T Identity +NM_001363671.2:c.802C>G NP_001350600.1:p.Leu268Val NC_000007.14:100105292:C:G p.(Leu268Val) NC_000007.14:100105292:C:G p.(Leu268Val) NC_000007.14:100105292:C:G Identity +NM_001042663.3:c.3004_3026del NP_001036128.2:p.Ser1002fs NC_000001.11:6467920:GGCTCAGGCTGGACCCTGGGAGAGGC:GGC p.(Ser1002ProfsTer26) NC_000001.11:6467920:GGCTCAGGCTGGACCCTGGGAGAGGC:GGC p.(Ser1002ProfsTer26) NC_000001.11:6467920:GGCTCAGGCTGGACCCTGGGAGA: Analogous +NM_001190274.2:c.959T>C NP_001177203.1:p.Val320Ala NC_000002.12:47833045:A:G p.(Val320Ala) NC_000002.12:47833045:A:G p.(Val320Ala) NC_000002.12:47833045:A:G Identity +NM_006208.3:c.1465C>T NP_006199.2:p.Pro489Ser NC_000006.12:131872949:C:T p.(Pro489Ser) NC_000006.12:131872949:C:T p.(Pro489Ser) NC_000006.12:131872949:C:T Identity +NM_001411025.1:c.4507G>C NP_001397954.1:p.Asp1503His NC_000011.10:66694155:C:G p.(Asp1503His) NC_000011.10:66694155:C:G p.(Asp1503His) NC_000011.10:66694155:C:G Identity +NM_001321268.2:c.652C>G NP_001308197.1:p.Pro218Ala NC_000017.11:58207905:G:C p.(Pro218Ala) NC_000017.11:58207905:G:C p.(Pro218Ala) NC_000017.11:58207905:G:C Identity +NM_003489.4:c.2412G>T NP_003480.2:p.Glu804Asp NC_000021.9:14965780:C:A p.(Glu804Asp) NC_000021.9:14965780:C:A p.(Glu804Asp) NC_000021.9:14965780:C:A Identity +NM_003907.3:c.1633C>T NP_003898.2:p.Pro545Ser NC_000003.12:184142864:C:T p.(Pro545Ser) NC_000003.12:184142864:C:T p.(Pro545Ser) NC_000003.12:184142864:C:T Identity +NM_017841.4:c.310C>T NP_060311.1:p.Leu104Phe NC_000011.10:61438052:C:T p.(Leu104Phe) NC_000011.10:61438052:C:T p.(Leu104Phe) NC_000011.10:61438052:C:T Identity +NM_007055.4:c.1754C>T NP_008986.2:p.Pro585Leu NC_000010.11:78009879:G:A p.(Pro585Leu) NC_000010.11:78009879:G:A p.(Pro585Leu) NC_000010.11:78009879:G:A Identity +NM_001031681.3:c.460A>C NP_001026851.2:p.Ser154Arg NC_000017.11:3655350:A:C p.(Ser154Arg) NC_000017.11:3655350:A:C p.(Ser154Arg) NC_000017.11:3655350:A:C Identity +NM_000297.4:c.402_403delinsAA NP_000288.1:p.Gly135Ser NC_000004.12:88008134:GG:AA p.(Gly135Ser) NC_000004.12:88008134:GG:AA p.(Gly135Ser) NC_000004.12:88008134:GG:AA Identity +NM_001291726.2:c.532G>A NP_001278655.1:p.Val178Met NC_000017.11:39673522:C:T p.(Val178Met) NC_000017.11:39673522:C:T p.(Val178Met) NC_000017.11:39673522:C:T Identity +NM_001039141.3:c.3556C>T NP_001034230.1:p.Leu1186Phe NC_000022.11:37726111:C:T p.(Leu1186Phe) NC_000022.11:37726111:C:T p.(Leu1186Phe) NC_000022.11:37726111:C:T Identity +NM_001281303.2:c.695C>T NP_001268232.1:p.Pro232Leu NC_000009.12:92055489:G:A p.(Pro232Leu) NC_000009.12:92055489:G:A p.(Pro232Leu) NC_000009.12:92055489:G:A Identity +NM_032888.4:c.769C>T NP_116277.2:p.Pro257Ser NC_000009.12:114168323:C:T p.(Pro257Ser) NC_000009.12:114168323:C:T p.(Pro257Ser) NC_000009.12:114168323:C:T Identity +NM_001127396.3:c.1691C>T NP_001120868.1:p.Ser564Phe NC_000019.10:7647727:C:T p.(Ser564Phe) NC_000019.10:7647727:C:T p.(Ser564Phe) NC_000019.10:7647727:C:T Identity +NM_014714.4:c.4258G>A NP_055529.2:p.Val1420Met NC_000016.10:1511074:C:T p.(Val1420Met) NC_000016.10:1511074:C:T p.(Val1420Met) NC_000016.10:1511074:C:T Identity +NM_004444.5:c.1555G>A NP_004435.3:p.Gly519Ser NC_000007.14:100817224:C:T p.(Gly519Ser) NC_000007.14:100817224:C:T p.(Gly519Ser) NC_000007.14:100817224:C:T Identity +NM_001413017.1:c.1906G>A NP_001399946.1:p.Ala636Thr NC_000008.11:144513983:C:T p.(Ala636Thr) NC_000008.11:144513983:C:T p.(Ala636Thr) NC_000008.11:144513983:C:T Identity +NM_001127505.3:c.286C>T NP_001120977.1:p.Pro96Ser NC_000008.11:18067297:G:A p.(Pro96Ser) NC_000008.11:18067297:G:A p.(Pro96Ser) NC_000008.11:18067297:G:A Identity +NM_002076.4:c.391A>T NP_002067.1:p.Thr131Ser NC_000012.12:64747779:T:A p.(Thr131Ser) NC_000012.12:64747779:T:A p.(Thr131Ser) NC_000012.12:64747779:T:A Identity +NM_001318369.2:c.43G>T NP_001305298.1:p.Val15Leu NC_000011.10:20607071:G:T p.(Val15Leu) NC_000011.10:20607071:G:T p.(Val15Leu) NC_000011.10:20607071:G:T Identity +NM_007215.4:c.299G>C NP_009146.2:p.Gly100Ala NC_000017.11:64496669:C:G p.(Gly100Ala) NC_000017.11:64496669:C:G p.(Gly100Ala) NC_000017.11:64496669:C:G Identity +NM_001942.4:c.460C>G NP_001933.2:p.Pro154Ala NC_000018.10:31329978:C:G p.(Pro154Ala) NC_000018.10:31329978:C:G p.(Pro154Ala) NC_000018.10:31329978:C:G Identity +NM_005271.5:c.307C>G NP_005262.1:p.Arg103Gly NC_000010.11:87094462:G:C p.(Arg103Gly) NC_000010.11:87094462:G:C p.(Arg103Gly) NC_000010.11:87094462:G:C Identity +NM_021973.3:c.594G>C NP_068808.1:p.Lys198Asn NC_000004.12:173527336:C:G p.(Lys198Asn) NC_000004.12:173527336:C:G p.(Lys198Asn) NC_000004.12:173527336:C:G Identity +NM_001130144.3:c.1546T>C NP_001123616.1:p.Ser516Pro NC_000011.10:65551549:A:G p.(Ser516Pro) NC_000011.10:65551549:A:G p.(Ser516Pro) NC_000011.10:65551549:A:G Identity +NM_001385907.1:c.1474G>A NP_001372836.1:p.Glu492Lys NC_000009.12:32485174:C:T p.(Glu492Lys) NC_000009.12:32485174:C:T p.(Glu492Lys) NC_000009.12:32485174:C:T Identity +NM_001143850.3:c.899C>T NP_001137322.1:p.Ala300Val NC_000012.12:123690542:C:T p.(Ala300Val) NC_000012.12:123690542:C:T p.(Ala300Val) NC_000012.12:123690542:C:T Identity +NM_014855.3:c.200A>T NP_055670.1:p.Asp67Val NC_000007.14:4781587:A:T p.(Asp67Val) NC_000007.14:4781587:A:T p.(Asp67Val) NC_000007.14:4781587:A:T Identity +NM_000135.4:c.511T>C NP_000126.2:p.Trp171Arg NC_000016.10:89810717:A:G p.(Trp171Arg) NC_000016.10:89810717:A:G p.(Trp171Arg) NC_000016.10:89810717:A:G Identity +NM_000152.5:c.1393G>C NP_000143.2:p.Gly465Arg NC_000017.11:80110010:G:C p.(Gly465Arg) NC_000017.11:80110010:G:C p.(Gly465Arg) NC_000017.11:80110010:G:C Identity +NM_015346.4:c.5495G>A NP_056161.2:p.Arg1832His NC_000014.9:67769719:C:T p.(Arg1832His) NC_000014.9:67769719:C:T p.(Arg1832His) NC_000014.9:67769719:C:T Identity +NM_003632.3:c.3412G>C NP_003623.1:p.Val1138Leu NC_000017.11:42696089:G:C p.(Val1138Leu) NC_000017.11:42696089:G:C p.(Val1138Leu) NC_000017.11:42696089:G:C Identity +NM_001382394.1:c.3778C>T NP_001369323.1:p.His1260Tyr NC_000002.12:38986026:G:A p.(His1260Tyr) NC_000002.12:38986026:G:A p.(His1260Tyr) NC_000002.12:38986026:G:A Identity +NM_001283009.2:c.683A>G NP_001269938.1:p.Tyr228Cys NC_000020.11:63667536:A:G p.(Tyr228Cys) NC_000020.11:63667536:A:G p.(Tyr228Cys) NC_000020.11:63667536:A:G Identity +NM_001190818.2:c.247C>T NP_001177747.1:p.Arg83Cys NC_000001.11:52397839:G:A p.(Arg83Cys) NC_000001.11:52397839:G:A p.(Arg83Cys) NC_000001.11:52397839:G:A Identity +NM_001349370.3:c.1802G>A NP_001336299.1:p.Ser601Asn NC_000003.12:47122701:C:T p.(Ser601Asn) NC_000003.12:47122701:C:T p.(Ser601Asn) NC_000003.12:47122701:C:T Identity +NM_001080463.2:c.8371A>G NP_001073932.1:p.Ile2791Val NC_000011.10:103204880:A:G p.(Ile2791Val) NC_000011.10:103204880:A:G p.(Ile2791Val) NC_000011.10:103204880:A:G Identity +NM_012213.3:c.123C>A NP_036345.2:p.Asp41Glu NC_000016.10:83899266:C:A p.(Asp41Glu) NC_000016.10:83899266:C:A p.(Asp41Glu) NC_000016.10:83899266:C:A Identity +NM_001135.4:c.1226C>T NP_001126.3:p.Pro409Leu NC_000015.10:88845678:C:T p.(Pro409Leu) NC_000015.10:88845678:C:T p.(Pro409Leu) NC_000015.10:88845678:C:T Identity +NM_001142763.2:c.461A>C NP_001136235.1:p.His154Pro NC_000010.11:54369147:T:G p.(His154Pro) NC_000010.11:54369147:T:G p.(His154Pro) NC_000010.11:54369147:T:G Identity +NM_001308093.3:c.730C>G NP_001295022.1:p.Leu244Val NC_000008.11:11749028:C:G p.(Leu244Val) NC_000008.11:11749028:C:G p.(Leu244Val) NC_000008.11:11749028:C:G Identity +NM_001291411.2:c.1043C>T NP_001278340.2:p.Ser348Leu NC_000021.9:33550273:C:T p.(Ser348Leu) NC_000021.9:33550273:C:T p.(Ser348Leu) NC_000021.9:33550273:C:T Identity +NM_182476.3:c.94A>G NP_872282.1:p.Thr32Ala NC_000014.9:73950425:A:G p.(Thr32Ala) NC_000014.9:73950425:A:G p.(Thr32Ala) NC_000014.9:73950425:A:G Identity +NM_001318520.2:c.3893C>T NP_001305449.1:p.Ala1298Val NC_000018.10:70004202:G:A p.(Ala1298Val) NC_000018.10:70004202:G:A p.(Ala1298Val) NC_000018.10:70004202:G:A Identity +NM_206933.4:c.10994G>A NP_996816.3:p.Gly3665Glu NC_000001.11:215766733:C:T p.(Gly3665Glu) NC_000001.11:215766733:C:T p.(Gly3665Glu) NC_000001.11:215766733:C:T Identity +NM_001142763.2:c.323T>C NP_001136235.1:p.Leu108Pro NC_000010.11:54378791:A:G p.(Leu108Pro) NC_000010.11:54378791:A:G p.(Leu108Pro) NC_000010.11:54378791:A:G Identity +NM_001351018.2:c.1529C>T NP_001337947.1:p.Pro510Leu NC_000012.12:122232846:G:A p.(Pro510Leu) NC_000012.12:122232846:G:A p.(Pro510Leu) NC_000012.12:122232846:G:A Identity +NM_001346897.2:c.2440G>T NP_001333826.1:p.Ala814Ser NC_000007.14:55191823:G:T p.(Ala814Ser) NC_000007.14:55191823:G:T p.(Ala814Ser) NC_000007.14:55191823:G:T Identity +NM_002661.5:c.1940A>C NP_002652.2:p.Tyr647Ser NC_000016.10:81912601:A:C p.(Tyr647Ser) NC_000016.10:81912601:A:C p.(Tyr647Ser) NC_000016.10:81912601:A:C Identity +NM_001178129.2:c.1079A>G NP_001171600.1:p.Lys360Arg NC_000007.14:83400134:T:C p.(Lys360Arg) NC_000007.14:83400134:T:C p.(Lys360Arg) NC_000007.14:83400134:T:C Identity +NM_001039375.3:c.244C>T NP_001034464.1:p.Arg82Cys NC_000020.11:13787332:C:T p.(Arg82Cys) NC_000020.11:13787332:C:T p.(Arg82Cys) NC_000020.11:13787332:C:T Identity +NM_001160227.2:c.4718T>C NP_001153699.1:p.Leu1573Pro NC_000015.10:44592355:A:G p.(Leu1573Pro) NC_000015.10:44592355:A:G p.(Leu1573Pro) NC_000015.10:44592355:A:G Identity +NM_004273.5:c.613C>T NP_004264.2:p.His205Tyr NC_000010.11:72007643:C:T p.(His205Tyr) NC_000010.11:72007643:C:T p.(His205Tyr) NC_000010.11:72007643:C:T Identity +NM_000434.4:c.14G>T NP_000425.1:p.Arg5Leu NC_000006.12:31862762:C:A p.(Arg5Leu) NC_000006.12:31862762:C:A p.(Arg5Leu) NC_000006.12:31862762:C:A Identity +NM_001385907.1:c.821del NP_001372836.1:p.Ser274fs NC_000009.12:32488865:G: p.(Ser274TyrfsTer71) NC_000009.12:32488865:G: p.(Ser274TyrfsTer71) NC_000009.12:32488865:G: Analogous +NM_000138.5:c.7732C>A NP_000129.3:p.Gln2578Lys NC_000015.10:48420773:G:T p.(Gln2578Lys) NC_000015.10:48420773:G:T p.(Gln2578Lys) NC_000015.10:48420773:G:T Identity +NM_000378.6:c.406C>T NP_000369.4:p.Pro136Ser NC_000011.10:32434954:G:A p.(Pro136Ser) NC_000011.10:32434954:G:A p.(Pro136Ser) NC_000011.10:32434954:G:A Identity +NM_001127208.3:c.2846A>G NP_001120680.1:p.His949Arg NC_000004.12:105236787:A:G p.(His949Arg) NC_000004.12:105236787:A:G p.(His949Arg) NC_000004.12:105236787:A:G Identity +NM_017780.4:c.4354G>A NP_060250.2:p.Val1452Ile NC_000008.11:60838075:G:A p.(Val1452Ile) NC_000008.11:60838075:G:A p.(Val1452Ile) NC_000008.11:60838075:G:A Identity +NM_173500.4:c.3209C>T NP_775771.3:p.Ser1070Leu NC_000015.10:42752036:G:A p.(Ser1070Leu) NC_000015.10:42752036:G:A p.(Ser1070Leu) NC_000015.10:42752036:G:A Identity +NM_005562.3:c.2154_2161del NP_005553.2:p.Asp718fs NC_000001.11:183232789:ATACTCACA:A p.(Asp718GlufsTer14) NC_000001.11:183232789:ATACTCACA:A p.(Asp718GlufsTer14) NC_000001.11:183232790:TACTCACA: Analogous +NM_001099922.3:c.2714A>G NP_001093392.1:p.Tyr905Cys NC_000023.11:111744685:A:G p.(Tyr905Cys) NC_000023.11:111744685:A:G p.(Tyr905Cys) NC_000023.11:111744685:A:G Identity +NM_000787.4:c.610G>A NP_000778.3:p.Glu204Lys NC_000009.12:133642329:G:A p.(Glu204Lys) NC_000009.12:133642329:G:A p.(Glu204Lys) NC_000009.12:133642329:G:A Identity +NM_016335.6:c.305A>G NP_057419.5:p.Gln102Arg NC_000022.11:18931166:T:C p.(Gln102Arg) NC_000022.11:18931166:T:C p.(Gln102Arg) NC_000022.11:18931166:T:C Identity +NM_000094.4:c.3215C>T NP_000085.1:p.Thr1072Met NC_000003.12:48587032:G:A p.(Thr1072Met) NC_000003.12:48587032:G:A p.(Thr1072Met) NC_000003.12:48587032:G:A Identity +NM_001006600.3:c.1763T>G NP_001006600.1:p.Ile588Ser NC_000005.10:66046512:T:G p.(Ile588Ser) NC_000005.10:66046512:T:G p.(Ile588Ser) NC_000005.10:66046512:T:G Identity +NM_001282622.3:c.4600G>A NP_001269551.1:p.Gly1534Ser NC_000023.11:53193046:C:T p.(Gly1534Ser) NC_000023.11:53193046:C:T p.(Gly1534Ser) NC_000023.11:53193046:C:T Identity +NM_000109.4:c.10615C>T NP_000100.3:p.Pro3539Ser NC_000023.11:31147432:G:A p.(Pro3539Ser) NC_000023.11:31147432:G:A p.(Pro3539Ser) NC_000023.11:31147432:G:A Identity +NM_001113178.3:c.487T>C NP_001106649.1:p.Ser163Pro NC_000016.10:69647260:T:C p.(Ser163Pro) NC_000016.10:69647260:T:C p.(Ser163Pro) NC_000016.10:69647260:T:C Identity +NM_001206927.2:c.11618C>T NP_001193856.1:p.Thr3873Ile NC_000006.12:38938027:C:T p.(Thr3873Ile) NC_000006.12:38938027:C:T p.(Thr3873Ile) NC_000006.12:38938027:C:T Identity +NM_145290.4:c.154G>C NP_660333.2:p.Ala52Pro NC_000004.12:22515630:C:G p.(Ala52Pro) NC_000004.12:22515630:C:G p.(Ala52Pro) NC_000004.12:22515630:C:G Identity +NM_001270476.2:c.1135C>G NP_001257405.1:p.Pro379Ala NC_000006.12:43010913:C:G p.(Pro379Ala) NC_000006.12:43010913:C:G p.(Pro379Ala) NC_000006.12:43010913:C:G Identity +NM_000018.4:c.946C>T NP_000009.1:p.Arg316Trp NC_000017.11:7222733:C:T p.(Arg316Trp) NC_000017.11:7222733:C:T p.(Arg316Trp) NC_000017.11:7222733:C:T Identity +NM_001166102.2:c.1055C>T NP_001159574.1:p.Thr352Met NC_000011.10:67611897:C:T p.(Thr352Met) NC_000011.10:67611897:C:T p.(Thr352Met) NC_000011.10:67611897:C:T Identity +NM_000426.4:c.7069T>C NP_000417.3:p.Trp2357Arg NC_000006.12:129464365:T:C p.(Trp2357Arg) NC_000006.12:129464365:T:C p.(Trp2357Arg) NC_000006.12:129464365:T:C Identity +NM_018060.4:c.1457C>T NP_060530.3:p.Thr486Met NC_000001.11:220110914:C:T p.(Thr486Met) NC_000001.11:220110914:C:T p.(Thr486Met) NC_000001.11:220110914:C:T Identity +NM_001144881.2:c.1736A>G NP_001138353.1:p.Asn579Ser NC_000012.12:42460568:T:C p.(Asn579Ser) NC_000012.12:42460568:T:C p.(Asn579Ser) NC_000012.12:42460568:T:C Identity +NM_001135659.3:c.922A>G NP_001129131.1:p.Lys308Glu NC_000002.12:50921877:T:C p.(Lys308Glu) NC_000002.12:50921877:T:C p.(Lys308Glu) NC_000002.12:50921877:T:C Identity +NM_003265.3:c.1561A>G NP_003256.1:p.Ile521Val NC_000004.12:186083246:A:G p.(Ile521Val) NC_000004.12:186083246:A:G p.(Ile521Val) NC_000004.12:186083246:A:G Identity +NM_006785.4:c.2326A>G NP_006776.1:p.Ser776Gly NC_000018.10:58747692:A:G p.(Ser776Gly) NC_000018.10:58747692:A:G p.(Ser776Gly) NC_000018.10:58747692:A:G Identity +NM_000028.3:c.2243G>T NP_000019.2:p.Arg748Ile NC_000001.11:99881625:G:T p.(Arg748Ile) NC_000001.11:99881625:G:T p.(Arg748Ile) NC_000001.11:99881625:G:T Identity +NM_001365819.1:c.4855C>T NP_001352748.1:p.Pro1619Ser NC_000022.11:50454624:G:A p.(Pro1619Ser) NC_000022.11:50454624:G:A p.(Pro1619Ser) NC_000022.11:50454624:G:A Identity +NM_001303496.3:c.1916G>A NP_001290425.1:p.Gly639Glu NC_000007.14:93134055:C:T p.(Gly639Glu) NC_000007.14:93134055:C:T p.(Gly639Glu) NC_000007.14:93134055:C:T Identity +NM_001031847.3:c.814G>A NP_001027017.1:p.Ala272Thr NC_000011.10:68794868:C:T p.(Ala272Thr) NC_000011.10:68794868:C:T p.(Ala272Thr) NC_000011.10:68794868:C:T Identity +NM_001008844.3:c.716A>G NP_001008844.1:p.Lys239Arg NC_000006.12:7562769:A:G p.(Lys239Arg) NC_000006.12:7562769:A:G p.(Lys239Arg) NC_000006.12:7562769:A:G Identity +NM_173689.7:c.2272C>G NP_775960.4:p.Pro758Ala NC_000009.12:123371413:C:G p.(Pro758Ala) NC_000009.12:123371413:C:G p.(Pro758Ala) NC_000009.12:123371413:C:G Identity +NM_001369.3:c.7800T>G NP_001360.1:p.Ile2600Met NC_000005.10:13807677:A:C p.(Ile2600Met) NC_000005.10:13807677:A:C p.(Ile2600Met) NC_000005.10:13807677:A:C Identity +NM_001254.4:c.1663T>G NP_001245.1:p.Leu555Val NC_000017.11:40301980:T:G p.(Leu555Val) NC_000017.11:40301980:T:G p.(Leu555Val) NC_000017.11:40301980:T:G Identity +NM_001145527.2:c.451G>C NP_001138999.1:p.Ala151Pro NC_000009.12:137716990:G:C p.(Ala151Pro) NC_000009.12:137716990:G:C p.(Ala151Pro) NC_000009.12:137716990:G:C Identity +NM_002067.5:c.794A>G NP_002058.2:p.Gln265Arg NC_000019.10:3119263:A:G p.(Gln265Arg) NC_000019.10:3119263:A:G p.(Gln265Arg) NC_000019.10:3119263:A:G Identity +NM_000285.4:c.814A>G NP_000276.2:p.Met272Val NC_000019.10:33411675:T:C p.(Met272Val) NC_000019.10:33411675:T:C p.(Met272Val) NC_000019.10:33411675:T:C Identity +NM_001305878.2:c.927A>G NP_001292807.1:p.Ile309Met NC_000008.11:41978757:T:C p.(Ile309Met) NC_000008.11:41978757:T:C p.(Ile309Met) NC_000008.11:41978757:T:C Identity +NM_001198868.2:c.1850T>A NP_001185797.1:p.Ile617Asn NC_000011.10:65209903:T:A p.(Ile617Asn) NC_000011.10:65209903:T:A p.(Ile617Asn) NC_000011.10:65209903:T:A Identity +NM_001098511.3:c.1735G>A NP_001091981.1:p.Asp579Asn NC_000005.10:62372525:G:A p.(Asp579Asn) NC_000005.10:62372525:G:A p.(Asp579Asn) NC_000005.10:62372525:G:A Identity +NM_000124.4:c.367G>A NP_000115.1:p.Ala123Thr NC_000010.11:49532597:C:T p.(Ala123Thr) NC_000010.11:49532597:C:T p.(Ala123Thr) NC_000010.11:49532597:C:T Identity +NM_000260.4:c.1046C>G NP_000251.3:p.Ser349Cys NC_000011.10:77159488:C:G p.(Ser349Cys) NC_000011.10:77159488:C:G p.(Ser349Cys) NC_000011.10:77159488:C:G Identity +NM_001204269.2:c.308A>C NP_001191198.1:p.Asn103Thr NC_000001.11:110604474:T:G p.(Asn103Thr) NC_000001.11:110604474:T:G p.(Asn103Thr) NC_000001.11:110604474:T:G Identity +NM_001141945.3:c.563C>T NP_001135417.1:p.Thr188Ile NC_000010.11:88941281:G:A p.(Thr188Ile) NC_000010.11:88941281:G:A p.(Thr188Ile) NC_000010.11:88941281:G:A Identity +NM_032130.3:c.1607A>G NP_115506.1:p.Gln536Arg NC_000012.12:49600032:T:C p.(Gln536Arg) NC_000012.12:49600032:T:C p.(Gln536Arg) NC_000012.12:49600032:T:C Identity +NM_001144769.5:c.6340A>G NP_001138241.1:p.Thr2114Ala NC_000006.12:56593691:T:C p.(Thr2114Ala) NC_000006.12:56593691:T:C p.(Thr2114Ala) NC_000006.12:56593691:T:C Identity +NM_138691.3:c.619T>A NP_619636.2:p.Phe207Ile NC_000009.12:72751932:T:A p.(Phe207Ile) NC_000009.12:72751932:T:A p.(Phe207Ile) NC_000009.12:72751932:T:A Identity +NM_025114.4:c.839A>G NP_079390.3:p.His280Arg NC_000012.12:88129706:T:C p.(His280Arg) NC_000012.12:88129706:T:C p.(His280Arg) NC_000012.12:88129706:T:C Identity +NM_000587.4:c.2125C>A NP_000578.2:p.Gln709Lys NC_000005.10:40976799:C:A p.(Gln709Lys) NC_000005.10:40976799:C:A p.(Gln709Lys) NC_000005.10:40976799:C:A Identity +NM_001277155.3:c.793G>A NP_001264084.1:p.Val265Met NC_000001.11:235470941:C:T p.(Val265Met) NC_000001.11:235470941:C:T p.(Val265Met) NC_000001.11:235470941:C:T Identity +NM_001440.4:c.676G>A NP_001431.1:p.Val226Ile NC_000008.11:28716734:G:A p.(Val226Ile) NC_000008.11:28716734:G:A p.(Val226Ile) NC_000008.11:28716734:G:A Identity +NM_001318245.2:c.3425G>C NP_001305174.1:p.Arg1142Pro NC_000022.11:25846152:G:C p.(Arg1142Pro) NC_000022.11:25846152:G:C p.(Arg1142Pro) NC_000022.11:25846152:G:C Identity +NM_001318785.2:c.896A>G NP_001305714.1:p.Glu299Gly NC_000006.12:87518258:T:C p.(Glu299Gly) NC_000006.12:87518258:T:C p.(Glu299Gly) NC_000006.12:87518258:T:C Identity +NM_152490.5:c.1177C>G NP_689703.1:p.Arg393Gly NC_000001.11:235454289:G:C p.(Arg393Gly) NC_000001.11:235454289:G:C p.(Arg393Gly) NC_000001.11:235454289:G:C Identity +NM_002470.4:c.5134G>A NP_002461.2:p.Glu1712Lys NC_000017.11:10631838:C:T p.(Glu1712Lys) NC_000017.11:10631838:C:T p.(Glu1712Lys) NC_000017.11:10631838:C:T Identity +NM_001172810.3:c.1726G>A NP_001166281.1:p.Gly576Arg NC_000017.11:74314159:G:A p.(Gly576Arg) NC_000017.11:74314159:G:A p.(Gly576Arg) NC_000017.11:74314159:G:A Identity +NM_001256545.2:c.2747A>G NP_001243474.1:p.Asn916Ser NC_000005.10:127447574:A:G p.(Asn916Ser) NC_000005.10:127447574:A:G p.(Asn916Ser) NC_000005.10:127447574:A:G Identity +NM_001164317.2:c.2957G>A NP_001157789.1:p.Arg986Gln NC_000003.12:58121333:G:A p.(Arg986Gln) NC_000003.12:58121333:G:A p.(Arg986Gln) NC_000003.12:58121333:G:A Identity +NM_001165412.2:c.555C>A NP_001158884.1:p.Asp185Glu NC_000004.12:102577025:C:A p.(Asp185Glu) NC_000004.12:102577025:C:A p.(Asp185Glu) NC_000004.12:102577025:C:A Identity +NM_004990.4:c.1910dup NP_004981.2:p.Asp637fs NC_000012.12:57512906:A:AA p.(Asp637GlufsTer7) NC_000012.12:57512906:A:AA p.(Asp637GlufsTer7) ERR:SPDI Analogous +NM_001377486.1:c.373A>G NP_001364415.1:p.Lys125Glu NC_000016.10:81362536:A:G p.(Lys125Glu) NC_000016.10:81362536:A:G p.(Lys125Glu) NC_000016.10:81362536:A:G Identity +NM_003482.4:c.10167G>A NP_003473.3:p.Met3389Ile NC_000012.12:49037188:C:T p.(Met3389Ile) NC_000012.12:49037188:C:T p.(Met3389Ile) NC_000012.12:49037188:C:T Identity +NM_001184.4:c.575C>T NP_001175.2:p.Ala192Val NC_000003.12:142562826:G:A p.(Ala192Val) NC_000003.12:142562826:G:A p.(Ala192Val) NC_000003.12:142562826:G:A Identity +NM_000263.4:c.1915G>A NP_000254.2:p.Glu639Lys NC_000017.11:42543920:G:A p.(Glu639Lys) NC_000017.11:42543920:G:A p.(Glu639Lys) NC_000017.11:42543920:G:A Identity +NM_031935.3:c.10976G>C NP_114141.2:p.Gly3659Ala NC_000001.11:186108583:G:C p.(Gly3659Ala) NC_000001.11:186108583:G:C p.(Gly3659Ala) NC_000001.11:186108583:G:C Identity +NM_001354516.2:c.119C>T NP_001341445.1:p.Ala40Val NC_000008.11:95032071:C:T p.(Ala40Val) NC_000008.11:95032071:C:T p.(Ala40Val) NC_000008.11:95032071:C:T Identity +NM_014362.4:c.692C>T NP_055177.2:p.Ala231Val NC_000002.12:190249697:G:A p.(Ala231Val) NC_000002.12:190249697:G:A p.(Ala231Val) NC_000002.12:190249697:G:A Identity +NM_001105540.2:c.652C>T NP_001099010.1:p.Arg218Cys NC_000011.10:46366907:C:T p.(Arg218Cys) NC_000011.10:46366907:C:T p.(Arg218Cys) NC_000011.10:46366907:C:T Identity +NM_001291411.2:c.5920C>G NP_001278340.2:p.Pro1974Ala NC_000021.9:33555150:C:G p.(Pro1974Ala) NC_000021.9:33555150:C:G p.(Pro1974Ala) NC_000021.9:33555150:C:G Identity +NM_001308164.2:c.1183G>T NP_001295093.1:p.Gly395Ter NC_000003.12:158658963:G:T p.(Gly395Ter) NC_000003.12:158658963:G:T p.(Gly395Ter) NC_000003.12:158658963:G:T Identity +NM_000481.4:c.35G>A NP_000472.2:p.Gly12Asp NC_000003.12:49422415:C:T p.(Gly12Asp) NC_000003.12:49422415:C:T p.(Gly12Asp) NC_000003.12:49422415:C:T Identity +NM_000069.3:c.4819C>T NP_000060.2:p.Gln1607Ter NC_000001.11:201043509:G:A p.(Gln1607Ter) NC_000001.11:201043509:G:A p.(Gln1607Ter) NC_000001.11:201043509:G:A Identity +NM_001077186.2:c.5935G>A NP_001070654.1:p.Glu1979Lys NC_000019.10:50309712:G:A p.(Glu1979Lys) NC_000019.10:50309712:G:A p.(Glu1979Lys) NC_000019.10:50309712:G:A Identity +NM_000244.4:c.1134del NP_000235.3:p.Asn379fs NC_000011.10:64805700:GGGG:GGG p.(Asn379ThrfsTer3) NC_000011.10:64805700:GGGG:GGG p.(Asn379ThrfsTer3) NC_000011.10:64805700:G: Analogous +NM_001353345.2:c.214del NP_001340274.1:p.Arg72fs NC_000012.12:121805153:CCCC:CCC p.(Arg72GlyfsTer34) NC_000012.12:121805153:CCCC:CCC p.(Arg72GlyfsTer34) NC_000012.12:121805156:C: Analogous +NM_001042529.3:c.41C>T NP_001035994.1:p.Pro14Leu NC_000017.11:42562662:C:T p.(Pro14Leu) NC_000017.11:42562662:C:T p.(Pro14Leu) NC_000017.11:42562662:C:T Identity +NM_001077493.1:c.1994C>A NP_001070961.1:p.Thr665Asn NC_000010.11:102400971:C:A ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001256468.2:c.1637A>G NP_001243397.1:p.Glu546Gly NC_000010.11:74979293:A:G p.(Glu546Gly) NC_000010.11:74979293:A:G p.(Glu546Gly) NC_000010.11:74979293:A:G Identity +NM_001197104.2:c.11122del NP_001184033.1:p.Arg3708fs NC_000011.10:118511998:CCC:CC p.(Arg3708AlafsTer2) NC_000011.10:118511998:CCC:CC p.(Arg3708AlafsTer2) NC_000011.10:118512000:C: Analogous +NM_000445.5:c.5309C>T NP_000436.2:p.Ala1770Val NC_000008.11:143924700:G:A p.(Ala1770Val) NC_000008.11:143924700:G:A p.(Ala1770Val) NC_000008.11:143924700:G:A Identity +NM_001304482.2:c.2366C>T NP_001291411.1:p.Pro789Leu NC_000003.12:47410541:C:T p.(Pro789Leu) NC_000003.12:47410541:C:T p.(Pro789Leu) NC_000003.12:47410541:C:T Identity +NM_032193.4:c.343G>A NP_115569.2:p.Asp115Asn NC_000011.10:65720246:C:T p.(Asp115Asn) NC_000011.10:65720246:C:T p.(Asp115Asn) NC_000011.10:65720246:C:T Identity +NM_000053.4:c.2387T>A NP_000044.2:p.Met796Lys NC_000013.11:51957575:A:T p.(Met796Lys) NC_000013.11:51957575:A:T p.(Met796Lys) NC_000013.11:51957575:A:T Identity +NM_001353765.2:c.397G>T NP_001340694.1:p.Gly133Trp NC_000002.12:29220749:C:A p.(Gly133Trp) NC_000002.12:29220749:C:A p.(Gly133Trp) NC_000002.12:29220749:C:A Identity +NM_003737.4:c.2522C>T NP_003728.1:p.Ala841Val NC_000011.10:6632989:G:A p.(Ala841Val) NC_000011.10:6632989:G:A p.(Ala841Val) NC_000011.10:6632989:G:A Identity +NM_001318872.2:c.619G>T NP_001305801.1:p.Ala207Ser NC_000006.12:5404547:G:T p.(Ala207Ser) NC_000006.12:5404547:G:T p.(Ala207Ser) NC_000006.12:5404547:G:T Identity +NM_172364.5:c.917G>A NP_758952.4:p.Arg306Lys NC_000012.12:1886298:C:T p.(Arg306Lys) NC_000012.12:1886298:C:T p.(Arg306Lys) NC_000012.12:1886298:C:T Identity +NM_001371986.1:c.9608G>A NP_001358915.1:p.Ser3203Asn NC_000002.12:209994163:G:A p.(Ser3203Asn) NC_000002.12:209994163:G:A p.(Ser3203Asn) NC_000002.12:209994163:G:A Identity +NM_005687.5:c.1639C>T NP_005678.3:p.Arg547Ter NC_000002.12:222572001:G:A p.(Arg547Ter) NC_000002.12:222572001:G:A p.(Arg547Ter) NC_000002.12:222572001:G:A Identity +NM_025150.5:c.980G>A NP_079426.2:p.Arg327Gln NC_000001.11:150496867:G:A p.(Arg327Gln) NC_000001.11:150496867:G:A p.(Arg327Gln) NC_000001.11:150496867:G:A Identity +NM_032119.4:c.18559G>C NP_115495.3:p.Gly6187Arg NC_000005.10:91150155:G:C p.(Gly6187Arg) NC_000005.10:91150155:G:C p.(Gly6187Arg) NC_000005.10:91150155:G:C Identity +NM_000790.4:c.685G>C NP_000781.2:p.Asp229His NC_000007.14:50528165:C:G p.(Asp229His) NC_000007.14:50528165:C:G p.(Asp229His) NC_000007.14:50528165:C:G Identity +NM_001135040.3:c.1576C>T NP_001128512.1:p.Gln526Ter NC_000002.12:74369162:G:A p.(Gln526Ter) NC_000002.12:74369162:G:A p.(Gln526Ter) NC_000002.12:74369162:G:A Identity +NM_001085487.3:c.2422A>T NP_001078956.1:p.Asn808Tyr NC_000001.11:58660061:T:A p.(Asn808Tyr) NC_000001.11:58660061:T:A p.(Asn808Tyr) NC_000001.11:58660061:T:A Identity +NM_001171933.1:c.2966T>C NP_001165404.1:p.Phe989Ser NC_000010.11:71813295:T:C p.(Phe989Ser) NC_000010.11:71813295:T:C p.(Phe989Ser) NC_000010.11:71813295:T:C Identity +NM_001195799.2:c.770dup NP_001182728.1:p.Met257fs NC_000019.10:11107466:T:TT p.(Met257IlefsTer3) NC_000019.10:11107466:T:TT p.(Met257IlefsTer3) ERR:SPDI Analogous +NM_001853.4:c.695G>A NP_001844.3:p.Gly232Glu NC_000020.11:62826213:G:A p.(Gly232Glu) NC_000020.11:62826213:G:A p.(Gly232Glu) NC_000020.11:62826213:G:A Identity +NM_015295.3:c.253G>T NP_056110.2:p.Asp85Tyr NC_000018.10:2666222:G:T p.(Asp85Tyr) NC_000018.10:2666222:G:T p.(Asp85Tyr) NC_000018.10:2666222:G:T Identity +NM_001316772.1:c.479C>A NP_001303701.1:p.Ala160Asp NC_000007.14:30603104:C:A p.(Ala160Asp) NC_000007.14:30603104:C:A p.(Ala160Asp) NC_000007.14:30603104:C:A Identity +NM_001300823.2:c.402A>C NP_001287752.1:p.Glu134Asp NC_000004.12:120821243:T:G p.(Glu134Asp) NC_000004.12:120821243:T:G p.(Glu134Asp) NC_000004.12:120821243:T:G Identity +NM_003764.4:c.334G>C NP_003755.2:p.Glu112Gln NC_000006.12:144186960:G:C p.(Glu112Gln) NC_000006.12:144186960:G:C p.(Glu112Gln) NC_000006.12:144186960:G:C Identity +NM_001099287.2:c.851G>C NP_001092757.2:p.Arg284Thr NC_000005.10:157472595:G:C p.(Arg284Thr) NC_000005.10:157472595:G:C p.(Arg284Thr) NC_000005.10:157472595:G:C Identity +NM_030665.4:c.1487C>A NP_109590.3:p.Pro496Gln NC_000017.11:17794434:C:A p.(Pro496Gln) NC_000017.11:17794434:C:A p.(Pro496Gln) NC_000017.11:17794434:C:A Identity +NM_003701.4:c.188G>A NP_003692.1:p.Ser63Asn NC_000013.11:42574490:G:A p.(Ser63Asn) NC_000013.11:42574490:G:A p.(Ser63Asn) NC_000013.11:42574490:G:A Identity +NM_001167595.2:c.38G>T NP_001161067.1:p.Gly13Val NC_000005.10:34007981:C:A p.(Gly13Val) NC_000005.10:34007981:C:A p.(Gly13Val) NC_000005.10:34007981:C:A Identity +NM_000069.3:c.794G>A NP_000060.2:p.Trp265Ter NC_000001.11:201089363:C:T p.(Trp265Ter) NC_000001.11:201089363:C:T p.(Trp265Ter) NC_000001.11:201089363:C:T Identity +NM_001321099.2:c.227G>C NP_001308028.1:p.Arg76Pro NC_000002.12:196902642:C:G p.(Arg76Pro) NC_000002.12:196902642:C:G p.(Arg76Pro) NC_000002.12:196902642:C:G Identity +NM_000935.3:c.203T>A NP_000926.2:p.Val68Asp NC_000003.12:146121246:A:T p.(Val68Asp) NC_000003.12:146121246:A:T p.(Val68Asp) NC_000003.12:146121246:A:T Identity +NM_024312.5:c.2463C>G NP_077288.2:p.His821Gln NC_000012.12:101764453:G:C p.(His821Gln) NC_000012.12:101764453:G:C p.(His821Gln) NC_000012.12:101764453:G:C Identity +NM_001242881.2:c.892G>A NP_001229810.1:p.Gly298Arg NC_000013.11:110637247:G:A p.(Gly298Arg) NC_000013.11:110637247:G:A p.(Gly298Arg) NC_000013.11:110637247:G:A Identity +NM_001042544.1:c.3487C>G NP_001036009.1:p.Pro1163Ala NC_000019.10:40622468:C:G p.(Pro1163Ala) NC_000019.10:40622468:C:G p.(Pro1163Ala) NC_000019.10:40622468:C:G Identity +NM_000833.5:c.3976G>C NP_000824.1:p.Gly1326Arg NC_000016.10:9763567:C:G p.(Gly1326Arg) NC_000016.10:9763567:C:G p.(Gly1326Arg) NC_000016.10:9763567:C:G Identity +NM_001310332.2:c.1636C>T NP_001297261.1:p.Gln546Ter NC_000014.9:24151950:C:T p.(Gln546Ter) NC_000014.9:24151950:C:T p.(Gln546Ter) NC_000014.9:24151950:C:T Identity +NM_005732.4:c.1075C>G NP_005723.2:p.Arg359Gly NC_000005.10:132588709:C:G p.(Arg359Gly) NC_000005.10:132588709:C:G p.(Arg359Gly) NC_000005.10:132588709:C:G Identity +NM_000075.4:c.308A>C NP_000066.1:p.Tyr103Ser NC_000012.12:57751252:T:G p.(Tyr103Ser) NC_000012.12:57751252:T:G p.(Tyr103Ser) NC_000012.12:57751252:T:G Identity +NM_001184985.2:c.148A>G NP_001171914.1:p.Arg50Gly NC_000012.12:753712:A:G p.(Arg50Gly) NC_000012.12:753712:A:G p.(Arg50Gly) NC_000012.12:753712:A:G Identity +NM_001033604.2:c.27G>C NP_001028776.1:p.Trp9Cys NC_000007.14:33146278:G:C p.(Trp9Cys) NC_000007.14:33146278:G:C p.(Trp9Cys) NC_000007.14:33146278:G:C Identity +NM_004273.5:c.1420G>A NP_004264.2:p.Gly474Ser NC_000010.11:72008450:G:A p.(Gly474Ser) NC_000010.11:72008450:G:A p.(Gly474Ser) NC_000010.11:72008450:G:A Identity +NM_001128148.3:c.2075C>G NP_001121620.1:p.Pro692Arg NC_000003.12:196052149:G:C p.(Pro692Arg) NC_000003.12:196052149:G:C p.(Pro692Arg) NC_000003.12:196052149:G:C Identity +NM_000553.6:c.1579T>G NP_000544.2:p.Phe527Val NC_000008.11:31088891:T:G p.(Phe527Val) NC_000008.11:31088891:T:G p.(Phe527Val) NC_000008.11:31088891:T:G Identity +NM_000251.3:c.514A>T NP_000242.1:p.Lys172Ter NC_000002.12:47410240:A:T p.(Lys172Ter) NC_000002.12:47410240:A:T p.(Lys172Ter) NC_000002.12:47410240:A:T Identity +NM_001161357.2:c.2105A>G NP_001154829.1:p.Gln702Arg NC_000019.10:17784113:A:G p.(Gln702Arg) NC_000019.10:17784113:A:G p.(Gln702Arg) NC_000019.10:17784113:A:G Identity +NM_153240.5:c.3858G>T NP_694972.3:p.Arg1286Ser NC_000003.12:132682044:C:A p.(Arg1286Ser) NC_000003.12:132682044:C:A p.(Arg1286Ser) NC_000003.12:132682044:C:A Identity +NM_138295.5:c.7238del NP_612152.1:p.Gly2413fs NC_000007.14:47813228:CC:C p.(Gly2413AlafsTer7) NC_000007.14:47813228:CC:C p.(Gly2413AlafsTer7) NC_000007.14:47813228:C: Analogous +NM_001193333.3:c.1249dup NP_001180262.1:p.Ala417fs NC_000016.10:30188541:GGG:GGGG p.(Ala417GlyfsTer76) NC_000016.10:30188541:GGG:GGGG p.(Ala417GlyfsTer76) ERR:SPDI Analogous +NM_001039348.3:c.202T>C NP_001034437.1:p.Tyr68His NC_000002.12:55917979:A:G p.(Tyr68His) NC_000002.12:55917979:A:G p.(Tyr68His) NC_000002.12:55917979:A:G Identity +NM_000112.4:c.909T>A NP_000103.2:p.Cys303Ter NC_000005.10:149980501:T:A p.(Cys303Ter) NC_000005.10:149980501:T:A p.(Cys303Ter) NC_000005.10:149980501:T:A Identity +NM_001135597.2:c.2407C>G NP_001129069.1:p.Leu803Val NC_000002.12:55334413:G:C p.(Leu803Val) NC_000002.12:55334413:G:C p.(Leu803Val) NC_000002.12:55334413:G:C Identity +NM_001407296.1:c.548A>C NP_001394225.1:p.Lys183Thr NC_000016.10:23635937:T:G p.(Lys183Thr) NC_000016.10:23635937:T:G p.(Lys183Thr) NC_000016.10:23635937:T:G Identity +NM_002470.4:c.44C>A NP_002461.2:p.Pro15His NC_000017.11:10655020:G:T p.(Pro15His) NC_000017.11:10655020:G:T p.(Pro15His) NC_000017.11:10655020:G:T Identity +NM_000553.6:c.1360C>A NP_000544.2:p.Pro454Thr NC_000008.11:31085174:C:A p.(Pro454Thr) NC_000008.11:31085174:C:A p.(Pro454Thr) NC_000008.11:31085174:C:A Identity +NM_001130066.2:c.3874G>A NP_001123538.1:p.Val1292Met NC_000006.12:33451796:G:A p.(Val1292Met) NC_000006.12:33451796:G:A p.(Val1292Met) NC_000006.12:33451796:G:A Identity +NM_024529.5:c.1045C>A NP_078805.3:p.Pro349Thr NC_000001.11:193212078:C:A p.(Pro349Thr) NC_000001.11:193212078:C:A p.(Pro349Thr) NC_000001.11:193212078:C:A Identity +NM_001347827.2:c.1940T>C NP_001334756.1:p.Ile647Thr NC_000004.12:54277943:T:C p.(Ile647Thr) NC_000004.12:54277943:T:C p.(Ile647Thr) NC_000004.12:54277943:T:C Identity +NM_001046.3:c.991A>G NP_001037.1:p.Thr331Ala NC_000005.10:128114623:A:G p.(Thr331Ala) NC_000005.10:128114623:A:G p.(Thr331Ala) NC_000005.10:128114623:A:G Identity +NM_001369803.2:c.517A>G NP_001356732.1:p.Thr173Ala NC_000001.11:21564084:A:G p.(Thr173Ala) NC_000001.11:21564084:A:G p.(Thr173Ala) NC_000001.11:21564084:A:G Identity +NM_014003.4:c.1571C>G NP_054722.2:p.Ser524Cys NC_000016.10:72103144:C:G p.(Ser524Cys) NC_000016.10:72103144:C:G p.(Ser524Cys) NC_000016.10:72103144:C:G Identity +NM_000159.4:c.659A>T NP_000150.1:p.Asp220Val NC_000019.10:12896227:A:T p.(Asp220Val) NC_000019.10:12896227:A:T p.(Asp220Val) NC_000019.10:12896227:A:T Identity +NM_001079878.2:c.1661G>A NP_001073347.1:p.Gly554Asp NC_000002.12:98396884:G:A p.(Gly554Asp) NC_000002.12:98396884:G:A p.(Gly554Asp) NC_000002.12:98396884:G:A Identity +NM_001122670.2:c.2689A>G NP_001116142.1:p.Ile897Val NC_000023.11:72605396:T:C p.(Ile897Val) NC_000023.11:72605396:T:C p.(Ile897Val) NC_000023.11:72605396:T:C Identity +NM_017671.5:c.1856G>A NP_060141.3:p.Arg619Gln NC_000020.11:6079439:C:T p.(Arg619Gln) NC_000020.11:6079439:C:T p.(Arg619Gln) NC_000020.11:6079439:C:T Identity +NM_019066.5:c.461C>G NP_061939.3:p.Pro154Arg NC_000015.10:23647281:G:C p.(Pro154Arg) NC_000015.10:23647281:G:C p.(Pro154Arg) NC_000015.10:23647281:G:C Identity +NM_024656.4:c.1622T>A NP_078932.2:p.Phe541Tyr NC_000019.10:17581196:T:A p.(Phe541Tyr) NC_000019.10:17581196:T:A p.(Phe541Tyr) NC_000019.10:17581196:T:A Identity +NM_138477.4:c.2534G>A NP_612486.2:p.Gly845Glu NC_000015.10:42729235:C:T p.(Gly845Glu) NC_000015.10:42729235:C:T p.(Gly845Glu) NC_000015.10:42729235:C:T Identity +NM_000033.4:c.1652G>T NP_000024.2:p.Gly551Val NC_000023.11:153740590:G:T p.(Gly551Val) NC_000023.11:153740590:G:T p.(Gly551Val) NC_000023.11:153740590:G:T Identity +NM_001178098.2:c.703C>T NP_001171569.1:p.Pro235Ser NC_000016.10:28933376:C:T p.(Pro235Ser) NC_000016.10:28933376:C:T p.(Pro235Ser) NC_000016.10:28933376:C:T Identity +NM_001035.3:c.8575G>C NP_001026.2:p.Glu2859Gln NC_000001.11:237667942:G:C p.(Glu2859Gln) NC_000001.11:237667942:G:C p.(Glu2859Gln) NC_000001.11:237667942:G:C Identity +NM_001007188.4:c.1155del NP_001007189.1:p.Ser386fs NC_000022.11:31804851:GG:G p.(Ser386ValfsTer18) NC_000022.11:31804851:GG:G p.(Ser386ValfsTer18) NC_000022.11:31804852:G: Analogous +NM_001204182.2:c.805C>A NP_001191111.1:p.Pro269Thr NC_000001.11:211669292:G:T p.(Pro269Thr) NC_000001.11:211669292:G:T p.(Pro269Thr) NC_000001.11:211669292:G:T Identity +NM_001285829.2:c.458G>A NP_001272758.1:p.Gly153Asp NC_000019.10:33301599:C:T p.(Gly153Asp) NC_000019.10:33301599:C:T p.(Gly153Asp) NC_000019.10:33301599:C:T Identity +NM_000271.5:c.2170del NP_000262.2:p.Leu724fs NC_000018.10:23543529:G: p.(Leu724TrpfsTer5) NC_000018.10:23543529:G: p.(Leu724TrpfsTer5) NC_000018.10:23543529:G: Analogous +NM_001377486.1:c.1084A>G NP_001364415.1:p.Ile362Val NC_000016.10:81377524:A:G p.(Ile362Val) NC_000016.10:81377524:A:G p.(Ile362Val) NC_000016.10:81377524:A:G Identity +NM_001143839.4:c.2692C>T NP_001137311.1:p.Arg898Cys NC_000011.10:72577496:G:A p.(Arg898Cys) NC_000011.10:72577496:G:A p.(Arg898Cys) NC_000011.10:72577496:G:A Identity +NM_001410908.1:c.2335T>C NP_001397837.1:p.Tyr779His NC_000007.14:105105576:T:C p.(Tyr779His) NC_000007.14:105105576:T:C p.(Tyr779His) NC_000007.14:105105576:T:C Identity +NM_001127208.3:c.4034A>C NP_001120680.1:p.Tyr1345Ser NC_000004.12:105261837:A:C p.(Tyr1345Ser) NC_000004.12:105261837:A:C p.(Tyr1345Ser) NC_000004.12:105261837:A:C Identity +NM_030793.5:c.2426A>C NP_110420.3:p.Asp809Ala NC_000005.10:148427719:A:C p.(Asp809Ala) NC_000005.10:148427719:A:C p.(Asp809Ala) NC_000005.10:148427719:A:C Identity +NM_001178007.2:c.758A>G NP_001171478.1:p.Gln253Arg NC_000004.12:122742649:A:G p.(Gln253Arg) NC_000004.12:122742649:A:G p.(Gln253Arg) NC_000004.12:122742649:A:G Identity +NM_001265612.2:c.6452G>A NP_001252541.1:p.Ser2151Asn NC_000016.10:58526124:C:T p.(Ser2151Asn) NC_000016.10:58526124:C:T p.(Ser2151Asn) NC_000016.10:58526124:C:T Identity +NM_001195728.3:c.305del NP_001182657.1:p.Lys102fs NC_000011.10:35312426:TT:T p.(Lys102ArgfsTer81) NC_000011.10:35312426:TT:T p.(Lys102ArgfsTer81) NC_000011.10:35312426:T: Analogous +NM_001272049.2:c.171G>C NP_001258978.1:p.Glu57Asp NC_000016.10:3689054:C:G p.(Glu57Asp) NC_000016.10:3689054:C:G p.(Glu57Asp) NC_000016.10:3689054:C:G Identity +NM_033071.5:c.18735dup NP_149062.2:p.Leu6246fs NC_000006.12:152262055:AA:AAA p.(Leu6246SerfsTer11) NC_000006.12:152262055:AA:AAA p.(Leu6246SerfsTer11) ERR:SPDI Analogous +NM_001288607.2:c.2527G>T NP_001275536.1:p.Glu843Ter NC_000001.11:150559045:G:T p.(Glu843Ter) NC_000001.11:150559045:G:T p.(Glu843Ter) NC_000001.11:150559045:G:T Identity +NM_001410714.1:c.1157C>G NP_001397643.1:p.Ser386Ter NC_000004.12:25145035:G:C p.(Ser386Ter) NC_000004.12:25145035:G:C p.(Ser386Ter) NC_000004.12:25145035:G:C Identity +NM_000495.5:c.2078G>T NP_000486.1:p.Gly693Val NC_000023.11:108601920:G:T p.(Gly693Val) NC_000023.11:108601920:G:T p.(Gly693Val) NC_000023.11:108601920:G:T Identity +NM_139025.5:c.1262G>A NP_620594.1:p.Arg421His NC_000009.12:133433657:G:A p.(Arg421His) NC_000009.12:133433657:G:A p.(Arg421His) NC_000009.12:133433657:G:A Identity +NM_000553.6:c.725A>C NP_000544.2:p.Glu242Ala NC_000008.11:31076172:A:C p.(Glu242Ala) NC_000008.11:31076172:A:C p.(Glu242Ala) NC_000008.11:31076172:A:C Identity +NM_001039675.2:c.242A>G NP_001034764.1:p.Tyr81Cys NC_000015.10:90936320:A:G p.(Tyr81Cys) NC_000015.10:90936320:A:G p.(Tyr81Cys) NC_000015.10:90936320:A:G Identity +NM_005045.4:c.4003A>G NP_005036.2:p.Lys1335Glu NC_000007.14:103589737:T:C p.(Lys1335Glu) NC_000007.14:103589737:T:C p.(Lys1335Glu) NC_000007.14:103589737:T:C Identity +NM_001365999.1:c.3806C>G NP_001352928.1:p.Thr1269Ser NC_000001.11:43428004:C:G p.(Thr1269Ser) NC_000001.11:43428004:C:G p.(Thr1269Ser) NC_000001.11:43428004:C:G Identity +NM_000920.4:c.2902C>G NP_000911.2:p.Leu968Val NC_000011.10:66849855:G:C p.(Leu968Val) NC_000011.10:66849855:G:C p.(Leu968Val) NC_000011.10:66849855:G:C Identity +NM_003906.5:c.1447T>C NP_003897.2:p.Ser483Pro NC_000021.9:46280571:A:G p.(Ser483Pro) NC_000021.9:46280571:A:G p.(Ser483Pro) NC_000021.9:46280571:A:G Identity +NM_001367830.1:c.6017G>T NP_001354759.1:p.Arg2006Leu NC_000019.10:11200742:C:A p.(Arg2006Leu) NC_000019.10:11200742:C:A p.(Arg2006Leu) NC_000019.10:11200742:C:A Identity +NM_001136191.3:c.1932C>A NP_001129663.1:p.His644Gln NC_000019.10:11174608:G:T p.(His644Gln) NC_000019.10:11174608:G:T p.(His644Gln) NC_000019.10:11174608:G:T Identity +NM_001384732.1:c.2183C>T NP_001371661.1:p.Pro728Leu NC_000005.10:37226411:G:A p.(Pro728Leu) NC_000005.10:37226411:G:A p.(Pro728Leu) NC_000005.10:37226411:G:A Identity +NM_000384.3:c.2297A>T NP_000375.3:p.Lys766Ile NC_000002.12:21025071:T:A p.(Lys766Ile) NC_000002.12:21025071:T:A p.(Lys766Ile) NC_000002.12:21025071:T:A Identity +NM_001127505.3:c.305T>C NP_001120977.1:p.Phe102Ser NC_000008.11:18067278:A:G p.(Phe102Ser) NC_000008.11:18067278:A:G p.(Phe102Ser) NC_000008.11:18067278:A:G Identity +NM_015378.4:c.5909G>A NP_056193.2:p.Arg1970Gln NC_000001.11:12293579:G:A p.(Arg1970Gln) NC_000001.11:12293579:G:A p.(Arg1970Gln) NC_000001.11:12293579:G:A Identity +NM_001035.3:c.682C>T NP_001026.2:p.Leu228Phe NC_000001.11:237388091:C:T p.(Leu228Phe) NC_000001.11:237388091:C:T p.(Leu228Phe) NC_000001.11:237388091:C:T Identity +NM_004525.3:c.7771G>T NP_004516.2:p.Ala2591Ser NC_000002.12:169204215:C:A p.(Ala2591Ser) NC_000002.12:169204215:C:A p.(Ala2591Ser) NC_000002.12:169204215:C:A Identity +NM_152393.4:c.458G>A NP_689606.2:p.Arg153His NC_000003.12:42686075:G:A p.(Arg153His) NC_000003.12:42686075:G:A p.(Arg153His) NC_000003.12:42686075:G:A Identity +NM_001351273.1:c.3925G>C NP_001338202.1:p.Gly1309Arg NC_000019.10:1467228:G:C p.(Gly1309Arg) NC_000019.10:1467228:G:C p.(Gly1309Arg) NC_000019.10:1467228:G:C Identity +NM_182961.4:c.1259G>A NP_892006.3:p.Arg420Lys NC_000006.12:152483175:C:T p.(Arg420Lys) NC_000006.12:152483175:C:T p.(Arg420Lys) NC_000006.12:152483175:C:T Identity +NM_014239.4:c.163G>A NP_055054.1:p.Gly55Arg NC_000014.9:75003152:G:A p.(Gly55Arg) NC_000014.9:75003152:G:A p.(Gly55Arg) NC_000014.9:75003152:G:A Identity +NM_004459.7:c.3382C>T NP_004450.3:p.Leu1128Phe NC_000017.11:67910887:C:T p.(Leu1128Phe) NC_000017.11:67910887:C:T p.(Leu1128Phe) NC_000017.11:67910887:C:T Identity +NM_000088.4:c.730C>T NP_000079.2:p.Arg244Cys NC_000017.11:50197199:G:A p.(Arg244Cys) NC_000017.11:50197199:G:A p.(Arg244Cys) NC_000017.11:50197199:G:A Identity +NM_001136191.3:c.377G>A NP_001129663.1:p.Arg126His NC_000019.10:11193702:C:T p.(Arg126His) NC_000019.10:11193702:C:T p.(Arg126His) NC_000019.10:11193702:C:T Identity +NM_024685.4:c.1195C>A NP_078961.3:p.Leu399Ile NC_000012.12:76346789:G:T p.(Leu399Ile) NC_000012.12:76346789:G:T p.(Leu399Ile) NC_000012.12:76346789:G:T Identity +NM_001440.4:c.2293C>T NP_001431.1:p.Arg765Trp NC_000008.11:28737534:C:T p.(Arg765Trp) NC_000008.11:28737534:C:T p.(Arg765Trp) NC_000008.11:28737534:C:T Identity +NM_025114.4:c.3482T>C NP_079390.3:p.Ile1161Thr NC_000012.12:88090818:A:G p.(Ile1161Thr) NC_000012.12:88090818:A:G p.(Ile1161Thr) NC_000012.12:88090818:A:G Identity +NM_005763.4:c.380T>C NP_005754.2:p.Leu127Pro NC_000007.14:122129367:A:G p.(Leu127Pro) NC_000007.14:122129367:A:G p.(Leu127Pro) NC_000007.14:122129367:A:G Identity +NM_014727.3:c.4459C>T NP_055542.1:p.Arg1487Cys NC_000019.10:35727946:C:T p.(Arg1487Cys) NC_000019.10:35727946:C:T p.(Arg1487Cys) NC_000019.10:35727946:C:T Identity +NM_001329556.3:c.161C>T NP_001316485.1:p.Ala54Val NC_000019.10:1495338:C:T p.(Ala54Val) NC_000019.10:1495338:C:T p.(Ala54Val) NC_000019.10:1495338:C:T Identity +NM_003573.2:c.1756C>G NP_003564.2:p.Arg586Gly NC_000019.10:40609852:C:G p.(Arg586Gly) NC_000019.10:40609852:C:G p.(Arg586Gly) NC_000019.10:40609852:C:G Identity +NM_000417.3:c.188T>C NP_000408.1:p.Leu63Pro NC_000010.11:6025901:A:G p.(Leu63Pro) NC_000010.11:6025901:A:G p.(Leu63Pro) NC_000010.11:6025901:A:G Identity +NM_000391.4:c.284C>T NP_000382.3:p.Thr95Ile NC_000011.10:6617721:G:A p.(Thr95Ile) NC_000011.10:6617721:G:A p.(Thr95Ile) NC_000011.10:6617721:G:A Identity +NM_001166111.2:c.2585C>T NP_001159583.1:p.Pro862Leu NC_000019.10:7554643:C:T p.(Pro862Leu) NC_000019.10:7554643:C:T p.(Pro862Leu) NC_000019.10:7554643:C:T Identity +NM_032520.5:c.340G>A NP_115909.1:p.Ala114Thr NC_000016.10:1362059:G:A p.(Ala114Thr) NC_000016.10:1362059:G:A p.(Ala114Thr) NC_000016.10:1362059:G:A Identity +NM_001283009.2:c.2428G>C NP_001269938.1:p.Gly810Arg NC_000020.11:63690818:G:C p.(Gly810Arg) NC_000020.11:63690818:G:C p.(Gly810Arg) NC_000020.11:63690818:G:C Identity +NM_017799.4:c.862del NP_060269.3:p.Gln288fs NC_000014.9:56615947:C: p.(Gln288LysfsTer2) NC_000014.9:56615947:C: p.(Gln288LysfsTer2) NC_000014.9:56615947:C: Analogous +NM_000458.4:c.280G>T NP_000449.1:p.Glu94Ter NC_000017.11:37744604:C:A p.(Glu94Ter) NC_000017.11:37744604:C:A p.(Glu94Ter) NC_000017.11:37744604:C:A Identity +NM_001128844.3:c.2039C>A NP_001122316.1:p.Pro680His NC_000019.10:11007938:C:A p.(Pro680His) NC_000019.10:11007938:C:A p.(Pro680His) NC_000019.10:11007938:C:A Identity +NM_001195263.2:c.930_949dup NP_001182192.1:p.Gln317fs NC_000010.11:101019196:GCTGCAGCACCCCGTTGCTC:GCTGCAGCACCCCGTTGCTCGCTGCAGCACCCCGTTGCTC p.(Gln317ArgfsTer129) NC_000010.11:101019196:GCTGCAGCACCCCGTTGCTC:GCTGCAGCACCCCGTTGCTCGCTGCAGCACCCCGTTGCTC p.(Gln317ArgfsTer129) ERR:SPDI Analogous +NM_000303.3:c.470T>G NP_000294.1:p.Phe157Cys NC_000016.10:8811659:T:G p.(Phe157Cys) NC_000016.10:8811659:T:G p.(Phe157Cys) NC_000016.10:8811659:T:G Identity +NM_001371986.1:c.3487A>G NP_001358915.1:p.Asn1163Asp NC_000002.12:209849482:A:G p.(Asn1163Asp) NC_000002.12:209849482:A:G p.(Asn1163Asp) NC_000002.12:209849482:A:G Identity +NM_001271.4:c.5456C>G NP_001262.3:p.Pro1819Arg NC_000015.10:93024673:C:G p.(Pro1819Arg) NC_000015.10:93024673:C:G p.(Pro1819Arg) NC_000015.10:93024673:C:G Identity +NM_032119.4:c.5155G>A NP_115495.3:p.Ala1719Thr NC_000005.10:90675286:G:A p.(Ala1719Thr) NC_000005.10:90675286:G:A p.(Ala1719Thr) NC_000005.10:90675286:G:A Identity +NM_001145265.2:c.797C>G NP_001138737.1:p.Ala266Gly NC_000011.10:45811075:C:G p.(Ala266Gly) NC_000011.10:45811075:C:G p.(Ala266Gly) NC_000011.10:45811075:C:G Identity +NM_000275.3:c.1626T>A NP_000266.2:p.Ser542Arg NC_000015.10:27966699:A:T p.(Ser542Arg) NC_000015.10:27966699:A:T p.(Ser542Arg) NC_000015.10:27966699:A:T Identity +NM_001362843.2:c.5454A>C NP_001349772.1:p.Gln1818His NC_000022.11:41177242:A:C p.(Gln1818His) NC_000022.11:41177242:A:C p.(Gln1818His) NC_000022.11:41177242:A:C Identity +NM_000180.4:c.1210C>G NP_000171.1:p.Leu404Val NC_000017.11:8006545:C:G p.(Leu404Val) NC_000017.11:8006545:C:G p.(Leu404Val) NC_000017.11:8006545:C:G Identity +NM_020928.2:c.1136G>A NP_065979.1:p.Gly379Asp NC_000005.10:61490887:G:A p.(Gly379Asp) NC_000005.10:61490887:G:A p.(Gly379Asp) NC_000005.10:61490887:G:A Identity +NM_001351225.2:c.1148A>T NP_001338154.1:p.Glu383Val NC_000017.11:6600422:T:A p.(Glu383Val) NC_000017.11:6600422:T:A p.(Glu383Val) NC_000017.11:6600422:T:A Identity +NM_001171.6:c.2692G>T NP_001162.5:p.Asp898Tyr NC_000016.10:16173378:C:A p.(Asp898Tyr) NC_000016.10:16173378:C:A p.(Asp898Tyr) NC_000016.10:16173378:C:A Identity +NM_005188.4:c.1081A>G NP_005179.2:p.Ile361Val NC_000011.10:119277829:A:G p.(Ile361Val) NC_000011.10:119277829:A:G p.(Ile361Val) NC_000011.10:119277829:A:G Identity +NM_000836.4:c.3671C>T NP_000827.2:p.Ala1224Val NC_000019.10:48443596:C:T p.(Ala1224Val) NC_000019.10:48443596:C:T p.(Ala1224Val) NC_000019.10:48443596:C:T Identity +NM_000051.4:c.3698C>T NP_000042.3:p.Ser1233Phe NC_000011.10:108282830:C:T p.(Ser1233Phe) NC_000011.10:108282830:C:T p.(Ser1233Phe) NC_000011.10:108282830:C:T Identity +NM_001297778.1:c.91G>T NP_001284707.1:p.Ala31Ser NC_000001.11:9972163:G:T p.(Ala31Ser) NC_000001.11:9972163:G:T p.(Ala31Ser) NC_000001.11:9972163:G:T Identity +NM_001379500.1:c.2218C>T NP_001366429.1:p.Pro740Ser NC_000021.9:45493165:C:T p.(Pro740Ser) NC_000021.9:45493165:C:T p.(Pro740Ser) NC_000021.9:45493165:C:T Identity +NM_001843.4:c.2324G>T NP_001834.2:p.Ser775Ile NC_000012.12:41016820:G:T p.(Ser775Ile) NC_000012.12:41016820:G:T p.(Ser775Ile) NC_000012.12:41016820:G:T Identity +NM_001134771.2:c.1745C>G NP_001128243.1:p.Pro582Arg NC_000020.11:46045983:C:G p.(Pro582Arg) NC_000020.11:46045983:C:G p.(Pro582Arg) NC_000020.11:46045983:C:G Identity +NM_001144769.5:c.12619A>G NP_001138241.1:p.Arg4207Gly NC_000006.12:56509677:T:C p.(Arg4207Gly) NC_000006.12:56509677:T:C p.(Arg4207Gly) NC_000006.12:56509677:T:C Identity +NM_001190458.2:c.709T>C NP_001177387.1:p.Cys237Arg NC_000009.12:328039:T:C p.(Cys237Arg) NC_000009.12:328039:T:C p.(Cys237Arg) NC_000009.12:328039:T:C Identity +NM_000321.3:c.1162A>G NP_000312.2:p.Ile388Val NC_000013.11:48373438:A:G p.(Ile388Val) NC_000013.11:48373438:A:G p.(Ile388Val) NC_000013.11:48373438:A:G Identity +NM_001308176.2:c.394A>G NP_001295105.1:p.Ile132Val NC_000018.10:28011904:T:C p.(Ile132Val) NC_000018.10:28011904:T:C p.(Ile132Val) NC_000018.10:28011904:T:C Identity +NM_001269039.3:c.1605G>A NP_001255968.1:p.Met535Ile NC_000010.11:111011811:G:A p.(Met535Ile) NC_000010.11:111011811:G:A p.(Met535Ile) NC_000010.11:111011811:G:A Identity +NM_006343.3:c.1025A>G NP_006334.2:p.His342Arg NC_000002.12:111975352:A:G p.(His342Arg) NC_000002.12:111975352:A:G p.(His342Arg) NC_000002.12:111975352:A:G Identity +NM_001374299.1:c.992A>G NP_001361228.1:p.Glu331Gly NC_000009.12:92271653:T:C p.(Glu331Gly) NC_000009.12:92271653:T:C p.(Glu331Gly) NC_000009.12:92271653:T:C Identity +NM_001407296.1:c.2705T>G NP_001394225.1:p.Ile902Arg NC_000016.10:23624077:A:C p.(Ile902Arg) NC_000016.10:23624077:A:C p.(Ile902Arg) NC_000016.10:23624077:A:C Identity +NM_000138.5:c.6611G>C NP_000129.3:p.Cys2204Ser NC_000015.10:48434598:C:G p.(Cys2204Ser) NC_000015.10:48434598:C:G p.(Cys2204Ser) NC_000015.10:48434598:C:G Identity +NM_001277155.3:c.583C>G NP_001264084.1:p.Pro195Ala NC_000001.11:235484416:G:C p.(Pro195Ala) NC_000001.11:235484416:G:C p.(Pro195Ala) NC_000001.11:235484416:G:C Identity +NM_005055.5:c.1A>G NP_005046.2:p.Met1Val NC_000011.10:47448963:T:C p.(Met1Val) NC_000011.10:47448963:T:C p.Met1? NC_000011.10:47448963:T:C Identity +NM_001128148.3:c.112A>G NP_001121620.1:p.Met38Val NC_000003.12:196075284:T:C p.(Met38Val) NC_000003.12:196075284:T:C p.(Met38Val) NC_000003.12:196075284:T:C Identity +NM_000178.4:c.556A>C NP_000169.1:p.Lys186Gln NC_000020.11:34941764:T:G p.(Lys186Gln) NC_000020.11:34941764:T:G p.(Lys186Gln) NC_000020.11:34941764:T:G Identity +NM_032833.5:c.1045G>A NP_116222.4:p.Ala349Thr NC_000001.11:204410366:C:T p.(Ala349Thr) NC_000001.11:204410366:C:T p.(Ala349Thr) NC_000001.11:204410366:C:T Identity +NM_030665.4:c.814G>A NP_109590.3:p.Gly272Ser NC_000017.11:17793761:G:A p.(Gly272Ser) NC_000017.11:17793761:G:A p.(Gly272Ser) NC_000017.11:17793761:G:A Identity +NM_001130823.3:c.1016A>G NP_001124295.1:p.Lys339Arg NC_000019.10:10160410:T:C p.(Lys339Arg) NC_000019.10:10160410:T:C p.(Lys339Arg) NC_000019.10:10160410:T:C Identity +NM_001128602.2:c.633G>C NP_001122074.1:p.Glu211Asp NC_000015.10:38516238:C:G p.(Glu211Asp) NC_000015.10:38516238:C:G p.(Glu211Asp) NC_000015.10:38516238:C:G Identity +NM_001005407.2:c.245G>A NP_001005407.1:p.Cys82Tyr NC_000016.10:1153981:G:A p.(Cys82Tyr) NC_000016.10:1153981:G:A p.(Cys82Tyr) NC_000016.10:1153981:G:A Identity +NM_001406482.1:c.970_973delCCTA NP_001393411.1:p.Pro324Alafs NC_000015.10:34791130:TAGG: p.(Pro324AlafsTer3) NC_000015.10:34791130:TAGG: p.(Pro324AlafsTer3) NC_000015.10:34791130:TAGG: Analogous +NM_000335.5:c.2692G>A NP_000326.2:p.Glu898Lys NC_000003.12:38585785:C:T p.(Glu898Lys) NC_000003.12:38585785:C:T p.(Glu898Lys) NC_000003.12:38585785:C:T Identity +NM_005876.5:c.6541C>T NP_005867.3:p.Pro2181Ser NC_000002.12:219484003:C:T p.(Pro2181Ser) NC_000002.12:219484003:C:T p.(Pro2181Ser) NC_000002.12:219484003:C:T Identity +NM_000388.4:c.464A>T NP_000379.3:p.Asn155Ile NC_000003.12:122257358:A:T p.(Asn155Ile) NC_000003.12:122257358:A:T p.(Asn155Ile) NC_000003.12:122257358:A:T Identity +NM_000215.4:c.175A>T NP_000206.2:p.Lys59Ter NC_000019.10:17844242:T:A p.(Lys59Ter) NC_000019.10:17844242:T:A p.(Lys59Ter) NC_000019.10:17844242:T:A Identity +NM_001164317.2:c.2682G>T NP_001157789.1:p.Lys894Asn NC_000003.12:58112254:G:T p.(Lys894Asn) NC_000003.12:58112254:G:T p.(Lys894Asn) NC_000003.12:58112254:G:T Identity +NM_001197104.2:c.7457C>A NP_001184033.1:p.Ser2486Tyr NC_000011.10:118503348:C:A p.(Ser2486Tyr) NC_000011.10:118503348:C:A p.(Ser2486Tyr) NC_000011.10:118503348:C:A Identity +NM_001113755.3:c.623T>C NP_001107227.1:p.Val208Ala NC_000022.11:50527610:A:G p.(Val208Ala) NC_000022.11:50527610:A:G p.(Val208Ala) NC_000022.11:50527610:A:G Identity +NM_001256850.1:c.78686dup NP_001243779.1:p.Thr26230fs NC_000002.12:178562522:A:AA p.(Thr26230AsnfsTer4) NC_000002.12:178562522:A:AA p.(Thr26230AsnfsTer4) ERR:SPDI Analogous +NM_001077365.2:c.529C>T NP_001070833.1:p.Gln177Ter NC_000009.12:131509011:C:T p.(Gln177Ter) NC_000009.12:131509011:C:T p.(Gln177Ter) NC_000009.12:131509011:C:T Identity +NM_001113755.3:c.572T>C NP_001107227.1:p.Leu191Pro NC_000022.11:50527661:A:G p.(Leu191Pro) NC_000022.11:50527661:A:G p.(Leu191Pro) NC_000022.11:50527661:A:G Identity +NM_001042544.1:c.1189A>G NP_001036009.1:p.Ile397Val NC_000019.10:40606522:A:G p.(Ile397Val) NC_000019.10:40606522:A:G p.(Ile397Val) NC_000019.10:40606522:A:G Identity +NM_001127660.2:c.1771C>T NP_001121132.1:p.Gln591Ter NC_000001.11:12006591:C:T p.(Gln591Ter) NC_000001.11:12006591:C:T p.(Gln591Ter) NC_000001.11:12006591:C:T Identity +NM_003718.5:c.2659G>A NP_003709.3:p.Gly887Arg NC_000007.14:40062883:G:A p.(Gly887Arg) NC_000007.14:40062883:G:A p.(Gly887Arg) NC_000007.14:40062883:G:A Identity +NM_002180.3:c.2452C>A NP_002171.2:p.Pro818Thr NC_000011.10:68936931:C:A p.(Pro818Thr) NC_000011.10:68936931:C:A p.(Pro818Thr) NC_000011.10:68936931:C:A Identity +NM_000083.3:c.2093_2105del NP_000074.3:p.Pro698fs NC_000007.14:143345678:CTCCCCGGCGCGCCTCC:CTCC p.(Pro698GlnfsTer92) NC_000007.14:143345678:CTCCCCGGCGCGCCTCC:CTCC p.(Pro698GlnfsTer92) NC_000007.14:143345682:CCGGCGCGCCTCC: Analogous +NM_004525.3:c.325T>C NP_004516.2:p.Ser109Pro NC_000002.12:169307382:A:G p.(Ser109Pro) NC_000002.12:169307382:A:G p.(Ser109Pro) NC_000002.12:169307382:A:G Identity +NM_001127487.2:c.5790_5797dup NP_001120959.1:p.Ser1933fs NC_000007.14:128852636:GGACGTGT:GGACGTGTGGACGTGT p.(Ser1933TrpfsTer5) NC_000007.14:128852636:GGACGTGT:GGACGTGTGGACGTGT p.(Ser1933TrpfsTer5) ERR:SPDI Analogous +NM_004459.7:c.4822G>A NP_004450.3:p.Glu1608Lys NC_000017.11:67912327:G:A p.(Glu1608Lys) NC_000017.11:67912327:G:A p.(Glu1608Lys) NC_000017.11:67912327:G:A Identity +NM_001184976.2:c.719A>G NP_001171905.1:p.Tyr240Cys NC_000012.12:54512032:A:G p.(Tyr240Cys) NC_000012.12:54512032:A:G p.(Tyr240Cys) NC_000012.12:54512032:A:G Identity +NM_001363823.2:c.491C>T NP_001350752.1:p.Thr164Ile NC_000002.12:32087569:C:T p.(Thr164Ile) NC_000002.12:32087569:C:T p.(Thr164Ile) NC_000002.12:32087569:C:T Identity +NM_001033046.4:c.95C>T NP_001028218.1:p.Ser32Leu NC_000017.11:82447611:G:A p.(Ser32Leu) NC_000017.11:82447611:G:A p.(Ser32Leu) NC_000017.11:82447611:G:A Identity +NM_001193307.2:c.3800C>G NP_001180236.1:p.Ser1267Cys NC_000007.14:93102297:G:C p.(Ser1267Cys) NC_000007.14:93102297:G:C p.(Ser1267Cys) NC_000007.14:93102297:G:C Identity +NM_006059.4:c.4003G>A NP_006050.3:p.Ala1335Thr NC_000009.12:131082133:G:A p.(Ala1335Thr) NC_000009.12:131082133:G:A p.(Ala1335Thr) NC_000009.12:131082133:G:A Identity +NM_004211.5:c.254C>A NP_004202.4:p.Pro85Gln NC_000011.10:20601378:C:A p.(Pro85Gln) NC_000011.10:20601378:C:A p.(Pro85Gln) NC_000011.10:20601378:C:A Identity +NM_001024688.3:c.1234C>T NP_001019859.1:p.Gln412Ter NC_000008.11:89953608:G:A p.(Gln412Ter) NC_000008.11:89953608:G:A p.(Gln412Ter) NC_000008.11:89953608:G:A Identity +NM_000720.4:c.1937T>C NP_000711.1:p.Ile646Thr NC_000003.12:53723643:T:C p.(Ile646Thr) NC_000003.12:53723643:T:C p.(Ile646Thr) NC_000003.12:53723643:T:C Identity +NM_000143.4:c.463G>A NP_000134.2:p.Glu155Lys NC_000001.11:241512058:C:T p.(Glu155Lys) NC_000001.11:241512058:C:T p.(Glu155Lys) NC_000001.11:241512058:C:T Identity +NM_000065.5:c.1865C>T NP_000056.2:p.Pro622Leu NC_000005.10:41158776:G:A p.(Pro622Leu) NC_000005.10:41158776:G:A p.(Pro622Leu) NC_000005.10:41158776:G:A Identity +NM_001164716.1:c.193G>C NP_001158188.1:p.Val65Leu NC_000011.10:64759705:C:G p.(Val65Leu) NC_000011.10:64759705:C:G p.(Val65Leu) NC_000011.10:64759705:C:G Identity +NM_024649.5:c.605C>G NP_078925.3:p.Thr202Ser NC_000011.10:66519629:C:G p.(Thr202Ser) NC_000011.10:66519629:C:G p.(Thr202Ser) NC_000011.10:66519629:C:G Identity +NM_000124.4:c.1717_1720del NP_000115.1:p.Cys573fs NC_000010.11:49493217:GACAGACA:GACA p.(Cys573GlnfsTer4) NC_000010.11:49493217:GACAGACA:GACA p.(Cys573GlnfsTer4) NC_000010.11:49493217:GACA: Analogous +NM_001244189.2:c.527T>C NP_001231118.1:p.Met176Thr NC_000014.9:58441300:T:C p.(Met176Thr) NC_000014.9:58441300:T:C p.(Met176Thr) NC_000014.9:58441300:T:C Identity +NM_001845.6:c.3262G>A NP_001836.3:p.Gly1088Arg NC_000013.11:110174685:C:T p.(Gly1088Arg) NC_000013.11:110174685:C:T p.(Gly1088Arg) NC_000013.11:110174685:C:T Identity +NM_001371986.1:c.2707G>T NP_001358915.1:p.Ala903Ser NC_000002.12:209831522:G:T p.(Ala903Ser) NC_000002.12:209831522:G:T p.(Ala903Ser) NC_000002.12:209831522:G:T Identity +NM_000081.4:c.6697T>A NP_000072.2:p.Leu2233Met NC_000001.11:235759155:A:T p.(Leu2233Met) NC_000001.11:235759155:A:T p.(Leu2233Met) NC_000001.11:235759155:A:T Identity +NM_001382394.1:c.3820G>A NP_001369323.1:p.Glu1274Lys NC_000002.12:38985984:C:T p.(Glu1274Lys) NC_000002.12:38985984:C:T p.(Glu1274Lys) NC_000002.12:38985984:C:T Identity +NM_000251.3:c.1502G>C NP_000242.1:p.Arg501Thr NC_000002.12:47463145:G:C p.(Arg501Thr) NC_000002.12:47463145:G:C p.(Arg501Thr) NC_000002.12:47463145:G:C Identity +NM_001136029.4:c.1774_1775del NP_001129501.1:p.Thr592fs NC_000022.11:31819126:ACAC:AC p.(Thr592AlafsTer7) NC_000022.11:31819126:ACAC:AC p.(Thr592AlafsTer7) NC_000022.11:31819128:AC: Analogous +NM_001098426.2:c.884A>C NP_001091896.1:p.Asn295Thr NC_000017.11:63834510:T:G p.(Asn295Thr) NC_000017.11:63834510:T:G p.(Asn295Thr) NC_000017.11:63834510:T:G Identity +NM_001015880.2:c.1087A>G NP_001015880.1:p.Met363Val NC_000010.11:87741234:A:G p.(Met363Val) NC_000010.11:87741234:A:G p.(Met363Val) NC_000010.11:87741234:A:G Identity +NM_000244.4:c.265C>T NP_000235.3:p.Leu89Phe NC_000011.10:64809844:G:A p.(Leu89Phe) NC_000011.10:64809844:G:A p.(Leu89Phe) NC_000011.10:64809844:G:A Identity +NM_001135.4:c.2077T>C NP_001126.3:p.Ser693Pro NC_000015.10:88851843:T:C p.(Ser693Pro) NC_000015.10:88851843:T:C p.(Ser693Pro) NC_000015.10:88851843:T:C Identity +NM_001080467.3:c.2906A>G NP_001073936.1:p.Tyr969Cys NC_000018.10:49895079:T:C p.(Tyr969Cys) NC_000018.10:49895079:T:C p.(Tyr969Cys) NC_000018.10:49895079:T:C Identity +NM_004268.5:c.679A>C NP_004259.3:p.Asn227His NC_000011.10:93793768:A:C p.(Asn227His) NC_000011.10:93793768:A:C p.(Asn227His) NC_000011.10:93793768:A:C Identity +NM_015909.4:c.4227G>A NP_056993.2:p.Trp1409Ter NC_000002.12:15330717:C:T p.(Trp1409Ter) NC_000002.12:15330717:C:T p.(Trp1409Ter) NC_000002.12:15330717:C:T Identity +NM_002437.5:c.374delinsAT NP_002428.1:p.Arg125fs NC_000002.12:27312494:C:AT p.(Asp126IlefsTer4) NC_000002.12:27312492:CCC:CCAT p.(Arg125HisfsTer5) NC_000002.12:27312494:C:AT Analogous +NM_001350914.2:c.389_390del NP_001337843.1:p.Asp129_Ser130insTer NC_000007.14:158876642:CTCT:CT p.(Ser130Ter) NC_000007.14:158876642:CTCT:CT p.(Ser130Ter) NC_000007.14:158876644:CT: Analogous +NM_001177984.3:c.2746C>T NP_001171455.1:p.Arg916Cys NC_000012.12:51765871:C:T p.(Arg916Cys) NC_000012.12:51765871:C:T p.(Arg916Cys) NC_000012.12:51765871:C:T Identity +NM_001256468.2:c.376C>A NP_001243397.1:p.Leu126Met NC_000010.11:74843232:C:A p.(Leu126Met) NC_000010.11:74843232:C:A p.(Leu126Met) NC_000010.11:74843232:C:A Identity +NM_001197104.2:c.5153T>G NP_001184033.1:p.Met1718Arg NC_000011.10:118493204:T:G p.(Met1718Arg) NC_000011.10:118493204:T:G p.(Met1718Arg) NC_000011.10:118493204:T:G Identity +NM_001350626.2:c.955G>T NP_001337555.1:p.Val319Phe NC_000007.14:2542179:C:A p.(Val319Phe) NC_000007.14:2542179:C:A p.(Val319Phe) NC_000007.14:2542179:C:A Identity +NM_001195263.2:c.82del NP_001182192.1:p.Arg28fs NC_000010.11:101030137:GGG:GG p.(Arg28GlufsTer4) NC_000010.11:101030137:GGG:GG p.(Arg28GlufsTer4) NC_000010.11:101030137:G: Analogous +NM_001031804.3:c.866T>A NP_001026974.1:p.Leu289Gln NC_000016.10:79599036:A:T p.(Leu289Gln) NC_000016.10:79599036:A:T p.(Leu289Gln) NC_000016.10:79599036:A:T Identity +NM_001256850.1:c.65210G>A NP_001243779.1:p.Trp21737Ter NC_000002.12:178575998:C:T p.(Trp21737Ter) NC_000002.12:178575998:C:T p.(Trp21737Ter) NC_000002.12:178575998:C:T Identity +NM_001265612.2:c.6766G>A NP_001252541.1:p.Glu2256Lys NC_000016.10:58525181:C:T p.(Glu2256Lys) NC_000016.10:58525181:C:T p.(Glu2256Lys) NC_000016.10:58525181:C:T Identity +NM_000528.4:c.1712C>A NP_000519.2:p.Pro571His NC_000019.10:12655811:G:T p.(Pro571His) NC_000019.10:12655811:G:T p.(Pro571His) NC_000019.10:12655811:G:T Identity +NM_016026.4:c.649G>A NP_057110.3:p.Ala217Thr NC_000014.9:67690226:C:T p.(Ala217Thr) NC_000014.9:67690226:C:T p.(Ala217Thr) NC_000014.9:67690226:C:T Identity +NM_001317090.2:c.731C>T NP_001304019.1:p.Ala244Val NC_000011.10:64298178:C:T p.(Ala244Val) NC_000011.10:64298178:C:T p.(Ala244Val) NC_000011.10:64298178:C:T Identity +NM_001366574.1:c.992A>G NP_001353503.1:p.His331Arg NC_000012.12:88172717:A:G p.(His331Arg) NC_000012.12:88172717:A:G p.(His331Arg) NC_000012.12:88172717:A:G Identity +NM_000308.4:c.1087A>G NP_000299.3:p.Asn363Asp NC_000020.11:45895131:A:G p.(Asn363Asp) NC_000020.11:45895131:A:G p.(Asn363Asp) NC_000020.11:45895131:A:G Identity +NM_000321.3:c.1050T>G NP_000312.2:p.Ser350Arg NC_000013.11:48368526:T:G p.(Ser350Arg) NC_000013.11:48368526:T:G p.(Ser350Arg) NC_000013.11:48368526:T:G Identity +NM_001277115.2:c.7319C>T NP_001264044.1:p.Ala2440Val NC_000007.14:21725862:C:T p.(Ala2440Val) NC_000007.14:21725862:C:T p.(Ala2440Val) NC_000007.14:21725862:C:T Identity +NM_001204.7:c.2695C>G NP_001195.2:p.Arg899Gly NC_000002.12:202556359:C:G p.(Arg899Gly) NC_000002.12:202556359:C:G p.(Arg899Gly) NC_000002.12:202556359:C:G Identity +NM_001278590.2:c.641A>G NP_001265519.1:p.Gln214Arg NC_000004.12:39470050:A:G p.(Gln214Arg) NC_000004.12:39470050:A:G p.(Gln214Arg) NC_000004.12:39470050:A:G Identity +NM_001365536.1:c.4506C>A NP_001352465.1:p.Asn1502Lys NC_000002.12:166204222:G:T p.(Asn1502Lys) NC_000002.12:166204222:G:T p.(Asn1502Lys) NC_000002.12:166204222:G:T Identity +NM_001195622.2:c.2463G>C NP_001182551.1:p.Lys821Asn NC_000009.12:32541866:C:G p.(Lys821Asn) NC_000009.12:32541866:C:G p.(Lys821Asn) NC_000009.12:32541866:C:G Identity +NM_000342.4:c.554C>G NP_000333.1:p.Ser185Ter NC_000017.11:44259863:G:C p.(Ser185Ter) NC_000017.11:44259863:G:C p.(Ser185Ter) NC_000017.11:44259863:G:C Identity +NM_001174116.3:c.4390C>A NP_001167587.1:p.Pro1464Thr NC_000015.10:51498833:G:T p.(Pro1464Thr) NC_000015.10:51498833:G:T p.(Pro1464Thr) NC_000015.10:51498833:G:T Identity +NM_001144967.3:c.83C>T NP_001138439.1:p.Ser28Phe NC_000018.10:58165821:C:T p.(Ser28Phe) NC_000018.10:58165821:C:T p.(Ser28Phe) NC_000018.10:58165821:C:T Identity +NM_001127891.3:c.893C>G NP_001121363.1:p.Pro298Arg NC_000016.10:55489686:C:G p.(Pro298Arg) NC_000016.10:55489686:C:G p.(Pro298Arg) NC_000016.10:55489686:C:G Identity +NM_017890.5:c.9094T>G NP_060360.3:p.Trp3032Gly NC_000008.11:99821317:T:G p.(Trp3032Gly) NC_000008.11:99821317:T:G p.(Trp3032Gly) NC_000008.11:99821317:T:G Identity +NM_000834.5:c.182A>G NP_000825.2:p.His61Arg NC_000012.12:13866026:T:C p.(His61Arg) NC_000012.12:13866026:T:C p.(His61Arg) NC_000012.12:13866026:T:C Identity +NM_016247.4:c.1103T>C NP_057331.2:p.Leu368Pro NC_000003.12:101257578:A:G p.(Leu368Pro) NC_000003.12:101257578:A:G p.(Leu368Pro) NC_000003.12:101257578:A:G Identity +NM_020184.4:c.158G>A NP_064569.3:p.Ser53Asn NC_000002.12:96761156:G:A p.(Ser53Asn) NC_000002.12:96761156:G:A p.(Ser53Asn) NC_000002.12:96761156:G:A Identity +NM_000272.5:c.1084G>T NP_000263.2:p.Ala362Ser NC_000002.12:110161640:C:A p.(Ala362Ser) NC_000002.12:110161640:C:A p.(Ala362Ser) NC_000002.12:110161640:C:A Identity +NM_001199954.3:c.188G>C NP_001186883.1:p.Gly63Ala NC_000017.11:81512077:C:G p.(Gly63Ala) NC_000017.11:81512077:C:G p.(Gly63Ala) NC_000017.11:81512077:C:G Identity +NM_000187.4:c.1112dup NP_000178.2:p.His371fs NC_000003.12:120633222:T:TT p.(His371GlnfsTer4) NC_000003.12:120633222:T:TT p.(His371GlnfsTer4) ERR:SPDI Analogous +NM_001081640.2:c.7256A>G NP_001075109.1:p.Asp2419Gly NC_000008.11:47849177:T:C p.(Asp2419Gly) NC_000008.11:47849177:T:C p.(Asp2419Gly) NC_000008.11:47849177:T:C Identity +NM_000251.3:c.337A>C NP_000242.1:p.Lys113Gln NC_000002.12:47408525:A:C p.(Lys113Gln) NC_000002.12:47408525:A:C p.(Lys113Gln) NC_000002.12:47408525:A:C Identity +NM_001168249.1:c.4665G>T NP_001161721.1:p.Trp1555Cys NC_000001.11:102881723:C:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001272003.2:c.1140G>A NP_001258932.1:p.Trp380Ter NC_000009.12:135765697:G:A p.(Trp380Ter) NC_000009.12:135765697:G:A p.(Trp380Ter) NC_000009.12:135765697:G:A Identity +NM_001256850.1:c.47681T>G NP_001243779.1:p.Leu15894Ter NC_000002.12:178608278:A:C p.(Leu15894Ter) NC_000002.12:178608278:A:C p.(Leu15894Ter) NC_000002.12:178608278:A:C Identity +NM_003079.5:c.499G>A NP_003070.3:p.Gly167Arg NC_000017.11:40635972:C:T p.(Gly167Arg) NC_000017.11:40635972:C:T p.(Gly167Arg) NC_000017.11:40635972:C:T Identity +NM_001165412.2:c.2768G>A NP_001158884.1:p.Ser923Asn NC_000004.12:102616454:G:A p.(Ser923Asn) NC_000004.12:102616454:G:A p.(Ser923Asn) NC_000004.12:102616454:G:A Identity +NM_000721.4:c.3047G>A NP_000712.2:p.Gly1016Glu NC_000001.11:181733534:G:A p.(Gly1016Glu) NC_000001.11:181733534:G:A p.(Gly1016Glu) NC_000001.11:181733534:G:A Identity +NM_000081.4:c.5954C>G NP_000072.2:p.Pro1985Arg NC_000001.11:235766245:G:C p.(Pro1985Arg) NC_000001.11:235766245:G:C p.(Pro1985Arg) NC_000001.11:235766245:G:C Identity +NM_031407.7:c.1124T>C NP_113584.3:p.Met375Thr NC_000023.11:53628610:A:G p.(Met375Thr) NC_000023.11:53628610:A:G p.(Met375Thr) NC_000023.11:53628610:A:G Identity +NM_000067.3:c.115A>C NP_000058.1:p.Lys39Gln NC_000008.11:85465351:A:C p.(Lys39Gln) NC_000008.11:85465351:A:C p.(Lys39Gln) NC_000008.11:85465351:A:C Identity +NM_001363656.2:c.208C>T NP_001350585.1:p.Arg70Cys NC_000019.10:52213047:C:T p.(Arg70Cys) NC_000019.10:52213047:C:T p.(Arg70Cys) NC_000019.10:52213047:C:T Identity +NM_000495.5:c.2936G>A NP_000486.1:p.Gly979Glu NC_000023.11:108624253:G:A p.(Gly979Glu) NC_000023.11:108624253:G:A p.(Gly979Glu) NC_000023.11:108624253:G:A Identity +NM_000234.3:c.287C>A NP_000225.1:p.Ala96Asp NC_000019.10:48157096:G:T p.(Ala96Asp) NC_000019.10:48157096:G:T p.(Ala96Asp) NC_000019.10:48157096:G:T Identity +NM_000179.3:c.1784T>G NP_000170.1:p.Leu595Ter NC_000002.12:47799766:T:G p.(Leu595Ter) NC_000002.12:47799766:T:G p.(Leu595Ter) NC_000002.12:47799766:T:G Identity +NM_003737.4:c.5140C>A NP_003728.1:p.Gln1714Lys NC_000011.10:6629472:G:T p.(Gln1714Lys) NC_000011.10:6629472:G:T p.(Gln1714Lys) NC_000011.10:6629472:G:T Identity +NM_031935.3:c.14938T>C NP_114141.2:p.Ser4980Pro NC_000001.11:186152790:T:C p.(Ser4980Pro) NC_000001.11:186152790:T:C p.(Ser4980Pro) NC_000001.11:186152790:T:C Identity +NM_001710.6:c.1244G>A NP_001701.2:p.Arg415His NC_000006.12:31949317:G:A p.(Arg415His) NC_000006.12:31949317:G:A p.(Arg415His) NC_000006.12:31949317:G:A Identity +NM_032043.3:c.2606A>C NP_114432.2:p.Gln869Pro NC_000017.11:61686134:T:G p.(Gln869Pro) NC_000017.11:61686134:T:G p.(Gln869Pro) NC_000017.11:61686134:T:G Identity +NM_020778.5:c.3541A>G NP_065829.4:p.Thr1181Ala NC_000015.10:84858278:A:G p.(Thr1181Ala) NC_000015.10:84858278:A:G p.(Thr1181Ala) NC_000015.10:84858278:A:G Identity +NM_001347701.2:c.2403G>T NP_001334630.1:p.Lys801Asn NC_000006.12:152133479:C:A p.(Lys801Asn) NC_000006.12:152133479:C:A p.(Lys801Asn) NC_000006.12:152133479:C:A Identity +NM_001114331.3:c.263G>A NP_001107803.1:p.Arg88Gln NC_000016.10:1461420:C:T p.(Arg88Gln) NC_000016.10:1461420:C:T p.(Arg88Gln) NC_000016.10:1461420:C:T Identity +NM_000836.4:c.3053A>G NP_000827.2:p.Glu1018Gly NC_000019.10:48442978:A:G p.(Glu1018Gly) NC_000019.10:48442978:A:G p.(Glu1018Gly) NC_000019.10:48442978:A:G Identity +NM_001363813.1:c.674T>G NP_001350742.1:p.Leu225Arg NC_000017.11:65557946:A:C p.(Leu225Arg) NC_000017.11:65557946:A:C p.(Leu225Arg) NC_000017.11:65557946:A:C Identity +NM_004963.4:c.35C>T NP_004954.2:p.Ser12Leu NC_000012.12:14696413:G:A p.(Ser12Leu) NC_000012.12:14696413:G:A p.(Ser12Leu) NC_000012.12:14696413:G:A Identity +NM_005249.5:c.439A>T NP_005240.3:p.Lys147Ter NC_000014.9:28767717:A:T p.(Lys147Ter) NC_000014.9:28767717:A:T p.(Lys147Ter) NC_000014.9:28767717:A:T Identity +NM_000383.4:c.1017C>G NP_000374.1:p.Ser339Arg NC_000021.9:44292322:C:G p.(Ser339Arg) NC_000021.9:44292322:C:G p.(Ser339Arg) NC_000021.9:44292322:C:G Identity +NM_001369346.1:c.3353G>T NP_001356275.1:p.Ser1118Ile NC_000002.12:25742809:C:A p.(Ser1118Ile) NC_000002.12:25742809:C:A p.(Ser1118Ile) NC_000002.12:25742809:C:A Identity +NM_005249.5:c.1426A>G NP_005240.3:p.Thr476Ala NC_000014.9:28768704:A:G p.(Thr476Ala) NC_000014.9:28768704:A:G p.(Thr476Ala) NC_000014.9:28768704:A:G Identity +NM_002389.4:c.1028A>G NP_002380.3:p.Asp343Gly NC_000001.11:207785070:A:G p.(Asp343Gly) NC_000001.11:207785070:A:G p.(Asp343Gly) NC_000001.11:207785070:A:G Identity +NM_001195573.1:c.2389G>A NP_001182502.1:p.Asp797Asn NC_000014.9:95108370:C:T p.(Asp797Asn) NC_000014.9:95108370:C:T p.(Asp797Asn) NC_000014.9:95108370:C:T Identity +NM_006231.4:c.2869G>A NP_006222.2:p.Ala957Thr NC_000012.12:132661159:C:T p.(Ala957Thr) NC_000012.12:132661159:C:T p.(Ala957Thr) NC_000012.12:132661159:C:T Identity +NM_014510.3:c.2299G>A NP_055325.2:p.Val767Ile NC_000007.14:83135250:C:T p.(Val767Ile) NC_000007.14:83135250:C:T p.(Val767Ile) NC_000007.14:83135250:C:T Identity +NM_001410890.1:c.575C>T NP_001397819.1:p.Thr192Ile NC_000001.11:161792213:C:T p.(Thr192Ile) NC_000001.11:161792213:C:T p.(Thr192Ile) NC_000001.11:161792213:C:T Identity +NM_000038.6:c.4929T>G NP_000029.2:p.Cys1643Trp NC_000005.10:112840522:T:G p.(Cys1643Trp) NC_000005.10:112840522:T:G p.(Cys1643Trp) NC_000005.10:112840522:T:G Identity +NM_001371986.1:c.8013G>T NP_001358915.1:p.Gln2671His NC_000002.12:209969773:G:T p.(Gln2671His) NC_000002.12:209969773:G:T p.(Gln2671His) NC_000002.12:209969773:G:T Identity +NM_001282948.2:c.6413A>G NP_001269877.1:p.Tyr2138Cys NC_000010.11:63184609:T:C p.(Tyr2138Cys) NC_000010.11:63184609:T:C p.(Tyr2138Cys) NC_000010.11:63184609:T:C Identity +NM_020638.3:c.458C>T NP_065689.1:p.Pro153Leu NC_000012.12:4370640:G:A p.(Pro153Leu) NC_000012.12:4370640:G:A p.(Pro153Leu) NC_000012.12:4370640:G:A Identity +NM_001164097.2:c.2273A>G NP_001157569.1:p.Gln758Arg NC_000005.10:83538236:A:G p.(Gln758Arg) NC_000005.10:83538236:A:G p.(Gln758Arg) NC_000005.10:83538236:A:G Identity +NM_000335.5:c.275C>G NP_000326.2:p.Thr92Ser NC_000003.12:38630427:G:C p.(Thr92Ser) NC_000003.12:38630427:G:C p.(Thr92Ser) NC_000003.12:38630427:G:C Identity +NM_001167961.2:c.494A>G NP_001161433.1:p.Asp165Gly NC_000007.14:66638855:A:G p.(Asp165Gly) NC_000007.14:66638855:A:G p.(Asp165Gly) NC_000007.14:66638855:A:G Identity +NM_001075098.4:c.1150G>T NP_001068566.1:p.Gly384Cys NC_000006.12:39909054:C:A p.(Gly384Cys) NC_000006.12:39909054:C:A p.(Gly384Cys) NC_000006.12:39909054:C:A Identity +NM_000832.7:c.1931T>C NP_000823.4:p.Val644Ala NC_000009.12:137162656:T:C p.(Val644Ala) NC_000009.12:137162656:T:C p.(Val644Ala) NC_000009.12:137162656:T:C Identity +NM_000297.4:c.1048G>T NP_000288.1:p.Val350Phe NC_000004.12:88038454:G:T p.(Val350Phe) NC_000004.12:88038454:G:T p.(Val350Phe) NC_000004.12:88038454:G:T Identity +NM_006612.6:c.743A>G NP_006603.2:p.Asp248Gly NC_000017.11:5003633:A:G p.(Asp248Gly) NC_000017.11:5003633:A:G p.(Asp248Gly) NC_000017.11:5003633:A:G Identity +NM_001271466.4:c.787C>G NP_001258395.2:p.Pro263Ala NC_000002.12:231239948:C:G p.(Pro263Ala) NC_000002.12:231239948:C:G p.(Pro263Ala) NC_000002.12:231239948:C:G Identity +NM_001306079.2:c.2237G>A NP_001293008.1:p.Arg746Gln NC_000002.12:27232004:G:A p.(Arg746Gln) NC_000002.12:27232004:G:A p.(Arg746Gln) NC_000002.12:27232004:G:A Identity +NM_001330087.2:c.2963A>G NP_001317016.1:p.Asp988Gly NC_000002.12:50472467:T:C p.(Asp988Gly) NC_000002.12:50472467:T:C p.(Asp988Gly) NC_000002.12:50472467:T:C Identity +NM_001207047.3:c.1310T>C NP_001193976.1:p.Phe437Ser NC_000020.11:3563234:T:C p.(Phe437Ser) NC_000020.11:3563234:T:C p.(Phe437Ser) NC_000020.11:3563234:T:C Identity +NM_001244189.2:c.3586G>T NP_001231118.1:p.Val1196Leu NC_000014.9:58488008:G:T p.(Val1196Leu) NC_000014.9:58488008:G:T p.(Val1196Leu) NC_000014.9:58488008:G:T Identity +NM_001127671.2:c.1819G>C NP_001121143.1:p.Val607Leu NC_000005.10:38496447:C:G p.(Val607Leu) NC_000005.10:38496447:C:G p.(Val607Leu) NC_000005.10:38496447:C:G Identity +NM_020366.4:c.671C>T NP_065099.3:p.Ala224Val NC_000014.9:21303413:C:T p.(Ala224Val) NC_000014.9:21303413:C:T p.(Ala224Val) NC_000014.9:21303413:C:T Identity +NM_006445.4:c.4600T>C NP_006436.3:p.Phe1534Leu NC_000017.11:1660735:A:G p.(Phe1534Leu) NC_000017.11:1660735:A:G p.(Phe1534Leu) NC_000017.11:1660735:A:G Identity +NM_020338.4:c.403A>G NP_065071.1:p.Met135Val NC_000010.11:79277302:A:G p.(Met135Val) NC_000010.11:79277302:A:G p.(Met135Val) NC_000010.11:79277302:A:G Identity +NM_000038.6:c.7184A>G NP_000029.2:p.Glu2395Gly NC_000005.10:112842777:A:G p.(Glu2395Gly) NC_000005.10:112842777:A:G p.(Glu2395Gly) NC_000005.10:112842777:A:G Identity +NM_001385640.1:c.2322C>A NP_001372569.1:p.Tyr774Ter NC_000001.11:943936:C:A p.(Tyr774Ter) NC_000001.11:943936:C:A p.(Tyr774Ter) NC_000001.11:943936:C:A Identity +NM_001413017.1:c.2171G>A NP_001399946.1:p.Gly724Asp NC_000008.11:144513136:C:T p.(Gly724Asp) NC_000008.11:144513136:C:T p.(Gly724Asp) NC_000008.11:144513136:C:T Identity +NM_152490.5:c.1048A>C NP_689703.1:p.Asn350His NC_000001.11:235455661:T:G p.(Asn350His) NC_000001.11:235455661:T:G p.(Asn350His) NC_000001.11:235455661:T:G Identity +NM_001318511.2:c.73C>T NP_001305440.1:p.Pro25Ser NC_000018.10:79680019:C:T p.(Pro25Ser) NC_000018.10:79680019:C:T p.(Pro25Ser) NC_000018.10:79680019:C:T Identity +NM_003362.4:c.462C>A NP_003353.1:p.His154Gln NC_000012.12:109101954:C:A p.(His154Gln) NC_000012.12:109101954:C:A p.(His154Gln) NC_000012.12:109101954:C:A Identity +NM_001111097.3:c.536C>G NP_001104567.1:p.Thr179Ser NC_000008.11:55952076:C:G p.(Thr179Ser) NC_000008.11:55952076:C:G p.(Thr179Ser) NC_000008.11:55952076:C:G Identity +NM_001318918.2:c.512G>A NP_001305847.1:p.Arg171His NC_000016.10:4334966:G:A p.(Arg171His) NC_000016.10:4334966:G:A p.(Arg171His) NC_000016.10:4334966:G:A Identity +NM_001347827.2:c.314C>T NP_001334756.1:p.Thr105Ile NC_000004.12:54261358:C:T p.(Thr105Ile) NC_000004.12:54261358:C:T p.(Thr105Ile) NC_000004.12:54261358:C:T Identity +NM_001024218.2:c.1012C>T NP_001019389.1:p.Pro338Ser NC_000014.9:67058752:C:T p.(Pro338Ser) NC_000014.9:67058752:C:T p.(Pro338Ser) NC_000014.9:67058752:C:T Identity +NM_005732.4:c.1040T>A NP_005723.2:p.Leu347His NC_000005.10:132588077:T:A p.(Leu347His) NC_000005.10:132588077:T:A p.(Leu347His) NC_000005.10:132588077:T:A Identity +NM_001165963.4:c.2300A>G NP_001159435.1:p.Asp767Gly NC_000002.12:166041345:T:C p.(Asp767Gly) NC_000002.12:166041345:T:C p.(Asp767Gly) NC_000002.12:166041345:T:C Identity +NM_021620.4:c.737G>A NP_067633.2:p.Gly246Glu NC_000006.12:99613371:G:A p.(Gly246Glu) NC_000006.12:99613371:G:A p.(Gly246Glu) NC_000006.12:99613371:G:A Identity +NM_000350.3:c.1901T>C NP_000341.2:p.Leu634Pro NC_000001.11:94062612:A:G p.(Leu634Pro) NC_000001.11:94062612:A:G p.(Leu634Pro) NC_000001.11:94062612:A:G Identity +NM_001166111.2:c.833A>C NP_001159583.1:p.His278Pro NC_000019.10:7540932:A:C p.(His278Pro) NC_000019.10:7540932:A:C p.(His278Pro) NC_000019.10:7540932:A:C Identity +NM_031935.3:c.14123G>C NP_114141.2:p.Ser4708Thr NC_000001.11:186144559:G:C p.(Ser4708Thr) NC_000001.11:186144559:G:C p.(Ser4708Thr) NC_000001.11:186144559:G:C Identity +NM_001321309.2:c.1883G>A NP_001308238.1:p.Ser628Asn NC_000003.12:123701488:C:T p.(Ser628Asn) NC_000003.12:123701488:C:T p.(Ser628Asn) NC_000003.12:123701488:C:T Identity +NM_000377.3:c.701del NP_000368.1:p.Ser234fs NC_000023.11:48686921:G: p.(Ser234ThrfsTer27) NC_000023.11:48686921:G: p.(Ser234ThrfsTer27) NC_000023.11:48686921:G: Analogous +NM_005458.8:c.582G>C NP_005449.5:p.Gln194His NC_000009.12:98541920:C:G p.(Gln194His) NC_000009.12:98541920:C:G p.(Gln194His) NC_000009.12:98541920:C:G Identity +NM_000227.6:c.4338del NP_000218.3:p.Arg1447fs NC_000018.10:23943925:G: p.(Arg1447GlyfsTer32) NC_000018.10:23943925:G: p.(Arg1447GlyfsTer32) NC_000018.10:23943925:G: Analogous +NM_001352252.2:c.616C>G NP_001339181.1:p.Leu206Val NC_000013.11:110644398:G:C p.(Leu206Val) NC_000013.11:110644398:G:C p.(Leu206Val) NC_000013.11:110644398:G:C Identity +NM_001410755.1:c.2533A>T NP_001397684.1:p.Met845Leu NC_000001.11:15732015:A:T p.(Met845Leu) NC_000001.11:15732015:A:T p.(Met845Leu) NC_000001.11:15732015:A:T Identity +NM_001308122.2:c.743A>T NP_001295051.1:p.Lys248Met NC_000005.10:132385345:A:T p.(Lys248Met) NC_000005.10:132385345:A:T p.(Lys248Met) NC_000005.10:132385345:A:T Identity +NM_000109.4:c.3230A>C NP_000100.3:p.Lys1077Thr NC_000023.11:32464607:T:G p.(Lys1077Thr) NC_000023.11:32464607:T:G p.(Lys1077Thr) NC_000023.11:32464607:T:G Identity +NM_000929.3:c.105dup NP_000920.1:p.Asn36fs NC_000001.11:20086146:G:GG p.(Asn36GlufsTer33) NC_000001.11:20086146:G:GG p.(Asn36GlufsTer33) ERR:SPDI Analogous +NM_001317184.2:c.1645C>T NP_001304113.1:p.Gln549Ter NC_000016.10:68822116:C:T p.(Gln549Ter) NC_000016.10:68822116:C:T p.(Gln549Ter) NC_000016.10:68822116:C:T Identity +NM_001145661.2:c.1258T>G NP_001139133.1:p.Cys420Gly NC_000003.12:128481203:A:C p.(Cys420Gly) NC_000003.12:128481203:A:C p.(Cys420Gly) NC_000003.12:128481203:A:C Identity +NM_001350735.2:c.285C>G NP_001337664.1:p.Asp95Glu NC_000005.10:134888079:C:G p.(Asp95Glu) NC_000005.10:134888079:C:G p.(Asp95Glu) NC_000005.10:134888079:C:G Identity +NM_001321431.2:c.4066G>C NP_001308360.1:p.Asp1356His NC_000019.10:8111665:C:G p.(Asp1356His) NC_000019.10:8111665:C:G p.(Asp1356His) NC_000019.10:8111665:C:G Identity +NM_206933.4:c.11756C>G NP_996816.3:p.Ser3919Ter NC_000001.11:215728339:G:C p.(Ser3919Ter) NC_000001.11:215728339:G:C p.(Ser3919Ter) NC_000001.11:215728339:G:C Identity +NM_001256849.1:c.3043T>C NP_001243778.1:p.Cys1015Arg NC_000019.10:50416698:T:C p.(Cys1015Arg) NC_000019.10:50416698:T:C p.(Cys1015Arg) NC_000019.10:50416698:T:C Identity +NM_001257194.1:c.1057A>G NP_001244123.1:p.Ser353Gly NC_000005.10:137639018:T:C p.(Ser353Gly) NC_000005.10:137639018:T:C p.(Ser353Gly) NC_000005.10:137639018:T:C Identity +NM_001411068.1:c.366C>A NP_001397997.1:p.Asn122Lys NC_000015.10:68214316:G:T p.(Asn122Lys) NC_000015.10:68214316:G:T p.(Asn122Lys) NC_000015.10:68214316:G:T Identity +NM_001122606.1:c.774_780del NP_001116078.1:p.Thr259fs NC_000023.11:120446388:GTGAGTTGT:GT p.(Thr259ProfsTer22) NC_000023.11:120446388:GTGAGTTGT:GT p.(Thr259ProfsTer22) NC_000023.11:120446388:GTGAGTT: Analogous +NM_001271282.3:c.5484G>C NP_001258211.1:p.Glu1828Asp NC_000014.9:95091245:C:G p.(Glu1828Asp) NC_000014.9:95091245:C:G p.(Glu1828Asp) NC_000014.9:95091245:C:G Identity +NM_000813.3:c.228A>T NP_000804.1:p.Glu76Asp NC_000005.10:161545235:T:A p.(Glu76Asp) NC_000005.10:161545235:T:A p.(Glu76Asp) NC_000005.10:161545235:T:A Identity +NM_018206.6:c.340G>A NP_060676.2:p.Val114Ile NC_000016.10:46680836:C:T p.(Val114Ile) NC_000016.10:46680836:C:T p.(Val114Ile) NC_000016.10:46680836:C:T Identity +NM_005045.4:c.3292T>C NP_005036.2:p.Cys1098Arg NC_000007.14:103603344:A:G p.(Cys1098Arg) NC_000007.14:103603344:A:G p.(Cys1098Arg) NC_000007.14:103603344:A:G Identity +NM_000047.3:c.176A>G NP_000038.2:p.Asn59Ser NC_000023.11:2958282:T:C p.(Asn59Ser) NC_000023.11:2958282:T:C p.(Asn59Ser) NC_000023.11:2958282:T:C Identity +NM_001252678.2:c.889G>C NP_001239607.1:p.Gly297Arg NC_000015.10:72736917:G:C p.(Gly297Arg) NC_000015.10:72736917:G:C p.(Gly297Arg) NC_000015.10:72736917:G:C Identity +NM_001193304.3:c.559T>C NP_001180233.1:p.Ser187Pro NC_000002.12:96253965:A:G p.(Ser187Pro) NC_000002.12:96253965:A:G p.(Ser187Pro) NC_000002.12:96253965:A:G Identity +NM_001193304.3:c.250T>C NP_001180233.1:p.Cys84Arg NC_000002.12:96254991:A:G p.(Cys84Arg) NC_000002.12:96254991:A:G p.(Cys84Arg) NC_000002.12:96254991:A:G Identity +NM_001279353.2:c.304A>G NP_001266282.1:p.Thr102Ala NC_000001.11:150077710:A:G p.(Thr102Ala) NC_000001.11:150077710:A:G p.(Thr102Ala) NC_000001.11:150077710:A:G Identity +NM_001288607.2:c.1442G>C NP_001275536.1:p.Ser481Thr NC_000001.11:150556162:G:C p.(Ser481Thr) NC_000001.11:150556162:G:C p.(Ser481Thr) NC_000001.11:150556162:G:C Identity +NM_006343.3:c.200C>G NP_006334.2:p.Pro67Arg NC_000002.12:111929257:C:G p.(Pro67Arg) NC_000002.12:111929257:C:G p.(Pro67Arg) NC_000002.12:111929257:C:G Identity +NM_001077182.3:c.287C>T NP_001070650.1:p.Pro96Leu NC_000017.11:81528817:C:T p.(Pro96Leu) NC_000017.11:81528817:C:T p.(Pro96Leu) NC_000017.11:81528817:C:T Identity +NM_004304.5:c.2000G>C NP_004295.2:p.Gly667Ala NC_000002.12:29275139:C:G p.(Gly667Ala) NC_000002.12:29275139:C:G p.(Gly667Ala) NC_000002.12:29275139:C:G Identity +NM_000319.5:c.1558C>G NP_000310.2:p.Leu520Val NC_000012.12:7209703:C:G p.(Leu520Val) NC_000012.12:7209703:C:G p.(Leu520Val) NC_000012.12:7209703:C:G Identity +NM_001105206.3:c.1126G>A NP_001098676.2:p.Asp376Asn NC_000006.12:112178183:C:T p.(Asp376Asn) NC_000006.12:112178183:C:T p.(Asp376Asn) NC_000006.12:112178183:C:T Identity +NM_003801.4:c.1218del NP_003792.1:p.Gly408fs NC_000008.11:144085093:CCC:CC p.(Gly408ValfsTer25) NC_000008.11:144085093:CCC:CC p.(Gly408ValfsTer25) NC_000008.11:144085095:C: Analogous +NM_001306079.2:c.1002G>T NP_001293008.1:p.Gln334His NC_000002.12:27223922:G:T p.(Gln334His) NC_000002.12:27223922:G:T p.(Gln334His) NC_000002.12:27223922:G:T Identity +NM_001127897.4:c.325G>A NP_001121369.1:p.Glu109Lys NC_000016.10:53692269:C:T p.(Glu109Lys) NC_000016.10:53692269:C:T p.(Glu109Lys) NC_000016.10:53692269:C:T Identity +NM_001159699.2:c.672C>G NP_001153171.1:p.Tyr224Ter NC_000023.11:136208576:C:G p.(Tyr224Ter) NC_000023.11:136208576:C:G p.(Tyr224Ter) NC_000023.11:136208576:C:G Identity +LRG_1080t1:c.232G>A LRG_1080p1:p.Gly78Ser NC_000018.10:57573327:C:T ERR:Data provider error: ValueError: Transcript LRG_1080t1 not found ERR:Data provider error: ValueError: Transcript LRG_1080t1 not found ERR:AlignmentMapper(tx_ac=LRG_1080t1, alt_ac=LRG_1080t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1080t1, alt_ac=LRG_1080t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1080t1 not found +NM_000553.6:c.845C>A NP_000544.2:p.Ser282Tyr NC_000008.11:31080871:C:A p.(Ser282Tyr) NC_000008.11:31080871:C:A p.(Ser282Tyr) NC_000008.11:31080871:C:A Identity +NM_001160372.4:c.1626T>A NP_001153844.1:p.His542Gln NC_000008.11:140300610:A:T p.(His542Gln) NC_000008.11:140300610:A:T p.(His542Gln) NC_000008.11:140300610:A:T Identity +NM_000374.5:c.166T>A NP_000365.3:p.Phe56Ile NC_000001.11:45013167:T:A p.(Phe56Ile) NC_000001.11:45013167:T:A p.(Phe56Ile) NC_000001.11:45013167:T:A Identity +NM_014989.7:c.623A>G NP_055804.2:p.Lys208Arg NC_000006.12:72179725:A:G p.(Lys208Arg) NC_000006.12:72179725:A:G p.(Lys208Arg) NC_000006.12:72179725:A:G Identity +NM_001164097.2:c.3893C>A NP_001157569.1:p.Pro1298His NC_000005.10:83539856:C:A p.(Pro1298His) NC_000005.10:83539856:C:A p.(Pro1298His) NC_000005.10:83539856:C:A Identity +NM_001170794.2:c.1402G>T NP_001164265.1:p.Val468Leu NC_000006.12:89950703:C:A p.(Val468Leu) NC_000006.12:89950703:C:A p.(Val468Leu) NC_000006.12:89950703:C:A Identity +NM_001172643.1:c.161A>C NP_001166114.1:p.Lys54Thr NC_000016.10:66536994:T:G p.(Lys54Thr) NC_000016.10:66536994:T:G p.(Lys54Thr) NC_000016.10:66536994:T:G Identity +NM_001134363.3:c.347C>T NP_001127835.2:p.Ala116Val NC_000010.11:110780955:C:T p.(Ala116Val) NC_000010.11:110780955:C:T p.(Ala116Val) NC_000010.11:110780955:C:T Identity +NM_001257197.2:c.1940C>G NP_001244126.1:p.Ser647Cys NC_000002.12:224478236:G:C p.(Ser647Cys) NC_000002.12:224478236:G:C p.(Ser647Cys) NC_000002.12:224478236:G:C Identity +NM_001286577.2:c.1390T>C NP_001273506.1:p.Phe464Leu NC_000011.10:74118357:A:G p.(Phe464Leu) NC_000011.10:74118357:A:G p.(Phe464Leu) NC_000011.10:74118357:A:G Identity +NM_001374425.1:c.662G>C NP_001361354.1:p.Arg221Pro NC_000001.11:2406890:C:G p.(Arg221Pro) NC_000001.11:2406890:C:G p.(Arg221Pro) NC_000001.11:2406890:C:G Identity +NM_000059.4:c.5713_5715del NP_000050.3:p.His1905del NC_000013.11:32340066:TCAT:T p.(His1905del) NC_000013.11:32340066:TCAT:T p.(His1905del) NC_000013.11:32340067:CAT: Identity +NM_001261427.3:c.985C>A NP_001248356.1:p.Pro329Thr NC_000002.12:11782317:C:A p.(Pro329Thr) NC_000002.12:11782317:C:A p.(Pro329Thr) NC_000002.12:11782317:C:A Identity +NM_000051.4:c.5005G>C NP_000042.3:p.Glu1669Gln NC_000011.10:108297381:G:C p.(Glu1669Gln) NC_000011.10:108297381:G:C p.(Glu1669Gln) NC_000011.10:108297381:G:C Identity +NM_000094.4:c.8140C>A NP_000085.1:p.Pro2714Thr NC_000003.12:48566992:G:T p.(Pro2714Thr) NC_000003.12:48566992:G:T p.(Pro2714Thr) NC_000003.12:48566992:G:T Identity +NM_001371986.1:c.7390A>C NP_001358915.1:p.Ile2464Leu NC_000002.12:209954202:A:C p.(Ile2464Leu) NC_000002.12:209954202:A:C p.(Ile2464Leu) NC_000002.12:209954202:A:C Identity +NM_002335.4:c.1180G>T NP_002326.2:p.Val394Leu NC_000011.10:68386479:G:T p.(Val394Leu) NC_000011.10:68386479:G:T p.(Val394Leu) NC_000011.10:68386479:G:T Identity +NM_004370.6:c.7021A>G NP_004361.3:p.Lys2341Glu NC_000006.12:75121366:T:C p.(Lys2341Glu) NC_000006.12:75121366:T:C p.(Lys2341Glu) NC_000006.12:75121366:T:C Identity +NM_001029882.3:c.4136A>G NP_001025053.1:p.His1379Arg NC_000001.11:27547979:T:C p.(His1379Arg) NC_000001.11:27547979:T:C p.(His1379Arg) NC_000001.11:27547979:T:C Identity +NM_005720.4:c.764A>G NP_005711.1:p.Asp255Gly NC_000007.14:99391233:A:G p.(Asp255Gly) NC_000007.14:99391233:A:G p.(Asp255Gly) NC_000007.14:99391233:A:G Identity +NM_000941.2:c.380G>A NP_000932.3:p.Ser127Asn NC_000007.14:75980351:G:A ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_001220.5:c.1633C>T NP_001211.3:p.Leu545Phe NC_000007.14:44220865:G:A p.(Leu545Phe) NC_000007.14:44220865:G:A p.(Leu545Phe) NC_000007.14:44220865:G:A Identity +NM_031935.3:c.13461C>G NP_114141.2:p.Asn4487Lys NC_000001.11:186136815:C:G p.(Asn4487Lys) NC_000001.11:186136815:C:G p.(Asn4487Lys) NC_000001.11:186136815:C:G Identity +NM_022114.4:c.3659C>G NP_071397.3:p.Ala1220Gly NC_000001.11:3432102:C:G p.(Ala1220Gly) NC_000001.11:3432102:C:G p.(Ala1220Gly) NC_000001.11:3432102:C:G Identity +NM_002470.4:c.4949A>G NP_002461.2:p.Gln1650Arg NC_000017.11:10632482:T:C p.(Gln1650Arg) NC_000017.11:10632482:T:C p.(Gln1650Arg) NC_000017.11:10632482:T:C Identity +NM_018109.4:c.1727G>C NP_060579.3:p.Arg576Thr NC_000010.11:30313630:C:G p.(Arg576Thr) NC_000010.11:30313630:C:G p.(Arg576Thr) NC_000010.11:30313630:C:G Identity +NM_001165979.2:c.4459G>C NP_001159451.1:p.Asp1487His NC_000010.11:94298593:G:C p.(Asp1487His) NC_000010.11:94298593:G:C p.(Asp1487His) NC_000010.11:94298593:G:C Identity +NM_014003.4:c.66_72del NP_054722.2:p.Gly23fs NC_000016.10:72096219:GGTTGGTGGT:GGT p.(Gly23LeufsTer33) NC_000016.10:72096219:GGTTGGTGGT:GGT p.(Gly23LeufsTer33) NC_000016.10:72096222:TGGTGGT: Analogous +NM_001271999.2:c.3407T>C NP_001258928.1:p.Leu1136Ser NC_000001.11:62537954:A:G p.(Leu1136Ser) NC_000001.11:62537954:A:G p.(Leu1136Ser) NC_000001.11:62537954:A:G Identity +NM_002335.4:c.470C>T NP_002326.2:p.Ala157Val NC_000011.10:68348224:C:T p.(Ala157Val) NC_000011.10:68348224:C:T p.(Ala157Val) NC_000011.10:68348224:C:T Identity +NM_001271466.4:c.478C>T NP_001258395.2:p.His160Tyr NC_000002.12:231216766:C:T p.(His160Tyr) NC_000002.12:231216766:C:T p.(His160Tyr) NC_000002.12:231216766:C:T Identity +NM_000365.6:c.669C>A NP_000356.1:p.Ser223Arg NC_000012.12:6870301:C:A p.(Ser223Arg) NC_000012.12:6870301:C:A p.(Ser223Arg) NC_000012.12:6870301:C:A Identity +NM_000492.4:c.9del NP_000483.3:p.Arg3fs NC_000007.14:117480101:GG:G p.(Arg3SerfsTer22) NC_000007.14:117480101:GG:G p.(Arg3SerfsTer22) NC_000007.14:117480102:G: Analogous +NM_013254.4:c.2069T>G NP_037386.1:p.Met690Arg NC_000012.12:64497969:T:G p.(Met690Arg) NC_000012.12:64497969:T:G p.(Met690Arg) NC_000012.12:64497969:T:G Identity +NM_032228.6:c.301A>G NP_115604.1:p.Ile101Val NC_000011.10:13700427:A:G p.(Ile101Val) NC_000011.10:13700427:A:G p.(Ile101Val) NC_000011.10:13700427:A:G Identity +NM_001145853.1:c.200A>C NP_001139325.1:p.His67Pro NC_000004.12:6277654:A:C p.(His67Pro) NC_000004.12:6277654:A:C p.(His67Pro) NC_000004.12:6277654:A:C Identity +NM_001171653.2:c.965A>G NP_001165124.1:p.Asn322Ser NC_000002.12:144400149:T:C p.(Asn322Ser) NC_000002.12:144400149:T:C p.(Asn322Ser) NC_000002.12:144400149:T:C Identity +NM_001363813.1:c.1386_1387delinsTA NP_001350742.1:p.Arg463Ser NC_000017.11:65537648:GG:TA p.(Arg463Ser) NC_000017.11:65537648:GG:TA p.(Arg463Ser) NC_000017.11:65537648:GG:TA Identity +NM_001098268.2:c.2276A>G NP_001091738.1:p.Asp759Gly NC_000013.11:108208992:T:C p.(Asp759Gly) NC_000013.11:108208992:T:C p.(Asp759Gly) NC_000013.11:108208992:T:C Identity +NM_000081.4:c.10321G>A NP_000072.2:p.Val3441Met NC_000001.11:235702799:C:T p.(Val3441Met) NC_000001.11:235702799:C:T p.(Val3441Met) NC_000001.11:235702799:C:T Identity +NM_025114.4:c.3214C>T NP_079390.3:p.Arg1072Trp NC_000012.12:88093864:G:A p.(Arg1072Trp) NC_000012.12:88093864:G:A p.(Arg1072Trp) NC_000012.12:88093864:G:A Identity +NM_007123.6:c.1971G>C NP_009054.6:p.Gln657His NC_000001.11:216289279:C:G p.(Gln657His) NC_000001.11:216289279:C:G p.(Gln657His) NC_000001.11:216289279:C:G Identity +NM_000843.4:c.1872C>G NP_000834.2:p.Ser624Arg NC_000005.10:178986381:G:C p.(Ser624Arg) NC_000005.10:178986381:G:C p.(Ser624Arg) NC_000005.10:178986381:G:C Identity +NM_001277313.2:c.830G>T NP_001264242.1:p.Gly277Val NC_000015.10:33154084:C:A p.(Gly277Val) NC_000015.10:33154084:C:A p.(Gly277Val) NC_000015.10:33154084:C:A Identity +NM_000245.4:c.3106A>T NP_000236.2:p.Thr1036Ser NC_000007.14:116774957:A:T p.(Thr1036Ser) NC_000007.14:116774957:A:T p.(Thr1036Ser) NC_000007.14:116774957:A:T Identity +NM_001085487.3:c.1484T>C NP_001078956.1:p.Leu495Pro NC_000001.11:58675486:A:G p.(Leu495Pro) NC_000001.11:58675486:A:G p.(Leu495Pro) NC_000001.11:58675486:A:G Identity +NM_001278503.2:c.632G>A NP_001265432.1:p.Gly211Asp NC_000011.10:125606316:G:A p.(Gly211Asp) NC_000011.10:125606316:G:A p.(Gly211Asp) NC_000011.10:125606316:G:A Identity +NM_001244189.2:c.2876A>G NP_001231118.1:p.Tyr959Cys NC_000014.9:58474688:A:G p.(Tyr959Cys) NC_000014.9:58474688:A:G p.(Tyr959Cys) NC_000014.9:58474688:A:G Identity +NM_001184.4:c.6758C>T NP_001175.2:p.Ala2253Val NC_000003.12:142466462:G:A p.(Ala2253Val) NC_000003.12:142466462:G:A p.(Ala2253Val) NC_000003.12:142466462:G:A Identity +NM_139057.4:c.592G>C NP_620688.2:p.Glu198Gln NC_000015.10:100330912:C:G p.(Glu198Gln) NC_000015.10:100330912:C:G p.(Glu198Gln) NC_000015.10:100330912:C:G Identity +NM_032193.4:c.32G>A NP_115569.2:p.Arg11Lys NC_000011.10:65720726:C:T p.(Arg11Lys) NC_000011.10:65720726:C:T p.(Arg11Lys) NC_000011.10:65720726:C:T Identity +NM_020247.5:c.1215G>C NP_064632.2:p.Glu405Asp NC_000001.11:226983812:G:C p.(Glu405Asp) NC_000001.11:226983812:G:C p.(Glu405Asp) NC_000001.11:226983812:G:C Identity +NM_001354723.2:c.560del NP_001341652.1:p.Lys187fs NC_000003.12:10142980:AA:A p.(Lys187ArgfsTer10) NC_000003.12:10142980:AA:A p.(Lys187ArgfsTer10) NC_000003.12:10142981:A: Analogous +NM_001363729.2:c.689A>G NP_001350658.1:p.Lys230Arg NC_000020.11:36927188:T:C p.(Lys230Arg) NC_000020.11:36927188:T:C p.(Lys230Arg) NC_000020.11:36927188:T:C Identity +NM_020184.4:c.1616A>C NP_064569.3:p.Asp539Ala NC_000002.12:96797581:A:C p.(Asp539Ala) NC_000002.12:96797581:A:C p.(Asp539Ala) NC_000002.12:96797581:A:C Identity +NM_001136536.5:c.181T>A NP_001130008.2:p.Cys61Ser NC_000004.12:36290535:T:A p.(Cys61Ser) NC_000004.12:36290535:T:A p.(Cys61Ser) NC_000004.12:36290535:T:A Identity +NM_001172435.2:c.2411T>C NP_001165906.1:p.Val804Ala NC_000002.12:135162771:T:C p.(Val804Ala) NC_000002.12:135162771:T:C p.(Val804Ala) NC_000002.12:135162771:T:C Identity +NM_001371411.1:c.457G>A NP_001358340.1:p.Ala153Thr NC_000002.12:227699257:C:T p.(Ala153Thr) NC_000002.12:227699257:C:T p.(Ala153Thr) NC_000002.12:227699257:C:T Identity +NM_001025107.3:c.2455T>A NP_001020278.1:p.Ser819Thr NC_000001.11:154585319:A:T p.(Ser819Thr) NC_000001.11:154585319:A:T p.(Ser819Thr) NC_000001.11:154585319:A:T Identity +NM_000535.7:c.547A>T NP_000526.2:p.Lys183Ter NC_000007.14:5999265:T:A p.(Lys183Ter) NC_000007.14:5999265:T:A p.(Lys183Ter) NC_000007.14:5999265:T:A Identity +NM_001142763.2:c.4304_4334del NP_001136235.1:p.Ala1435fs NC_000010.11:53827440:GGCGGCGGCGGCGGGGGCGCTGCCACTGGTG: p.(Ala1435GlyfsTer45) NC_000010.11:53827440:GGCGGCGGCGGCGGGGGCGCTGCCACTGGTG: p.(Ala1435GlyfsTer45) NC_000010.11:53827440:GGCGGCGGCGGCGGGGGCGCTGCCACTGGTG: Analogous +NM_004525.3:c.9848A>G NP_004516.2:p.Lys3283Arg NC_000002.12:169182316:T:C p.(Lys3283Arg) NC_000002.12:169182316:T:C p.(Lys3283Arg) NC_000002.12:169182316:T:C Identity +NM_001135040.3:c.1454C>T NP_001128512.1:p.Ala485Val NC_000002.12:74369369:G:A p.(Ala485Val) NC_000002.12:74369369:G:A p.(Ala485Val) NC_000002.12:74369369:G:A Identity +NM_001134673.4:c.26A>G NP_001128145.1:p.Gln9Arg NC_000001.11:61082816:A:G p.(Gln9Arg) NC_000001.11:61082816:A:G p.(Gln9Arg) NC_000001.11:61082816:A:G Identity +NM_001271427.2:c.1450C>G NP_001258356.1:p.Leu484Val NC_000001.11:19233114:G:C p.(Leu484Val) NC_000001.11:19233114:G:C p.(Leu484Val) NC_000001.11:19233114:G:C Identity +NM_015650.4:c.1196C>T NP_056465.2:p.Ser399Leu NC_000002.12:238344532:C:T p.(Ser399Leu) NC_000002.12:238344532:C:T p.(Ser399Leu) NC_000002.12:238344532:C:T Identity +NM_002661.5:c.3117G>C NP_002652.2:p.Gln1039His NC_000016.10:81937821:G:C p.(Gln1039His) NC_000016.10:81937821:G:C p.(Gln1039His) NC_000016.10:81937821:G:C Identity +NM_001362843.2:c.7105C>G NP_001349772.1:p.Leu2369Val NC_000022.11:41178893:C:G p.(Leu2369Val) NC_000022.11:41178893:C:G p.(Leu2369Val) NC_000022.11:41178893:C:G Identity +NM_001079812.3:c.86C>T NP_001073280.1:p.Ala29Val NC_000005.10:141618828:G:A p.(Ala29Val) NC_000005.10:141618828:G:A p.(Ala29Val) NC_000005.10:141618828:G:A Identity +NM_000540.3:c.14693T>G NP_000531.2:p.Ile4898Ser NC_000019.10:38584988:T:G p.(Ile4898Ser) NC_000019.10:38584988:T:G p.(Ile4898Ser) NC_000019.10:38584988:T:G Identity +NM_000587.4:c.1782T>A NP_000578.2:p.Asn594Lys NC_000005.10:40964772:T:A p.(Asn594Lys) NC_000005.10:40964772:T:A p.(Asn594Lys) NC_000005.10:40964772:T:A Identity +NM_001166103.2:c.121G>A NP_001159575.1:p.Asp41Asn NC_000019.10:38287889:G:A p.(Asp41Asn) NC_000019.10:38287889:G:A p.(Asp41Asn) NC_000019.10:38287889:G:A Identity +NM_000257.4:c.4330AAG[1] NP_000248.2:p.Lys1445del NC_000014.9:23417520:CTTCTT:CTT p.(Lys1445del) NC_000014.9:23417525:T:CTT ERR:Parse ERR:Parse Identity +NM_025114.4:c.635_636insT NP_079390.3:p.Tyr213fs NC_000012.12:88130301::A p.(Tyr213LeufsTer2) NC_000012.12:88130300:G:A p.(Tyr213LeufsTer2) NC_000012.12:88130301:GT:A Analogous +NM_001206999.2:c.1556G>A NP_001193928.1:p.Arg519Gln NC_000012.12:119782626:C:T p.(Arg519Gln) NC_000012.12:119782626:C:T p.(Arg519Gln) NC_000012.12:119782626:C:T Identity +NM_001197104.2:c.278C>G NP_001184033.1:p.Ser93Cys NC_000011.10:118436789:C:G p.(Ser93Cys) NC_000011.10:118436789:C:G p.(Ser93Cys) NC_000011.10:118436789:C:G Identity +NM_000098.3:c.1702A>G NP_000089.1:p.Ile568Val NC_000001.11:53213319:A:G p.(Ile568Val) NC_000001.11:53213319:A:G p.(Ile568Val) NC_000001.11:53213319:A:G Identity +NM_001377289.1:c.1112G>A NP_001364218.1:p.Gly371Asp NC_000006.12:70252268:C:T p.(Gly371Asp) NC_000006.12:70252268:C:T p.(Gly371Asp) NC_000006.12:70252268:C:T Identity +NM_001126336.3:c.221del NP_001119808.1:p.Asn74fs NC_000005.10:83490243:AAAAA:AAAA p.(Asn74MetfsTer5) NC_000005.10:83490243:AAAAA:AAAA p.(Asn74MetfsTer5) NC_000005.10:83490247:A: Analogous +NM_001136504.1:c.652G>A NP_001129976.1:p.Gly218Arg NC_000001.11:202602038:C:T p.(Gly218Arg) NC_000001.11:202602038:C:T p.(Gly218Arg) NC_000001.11:202602038:C:T Identity +NM_001256820.2:c.104_105del NP_001243749.1:p.Leu35fs NC_000001.11:155904754:CA: p.(Leu35ArgfsTer39) NC_000001.11:155904754:CA: p.(Leu35ArgfsTer39) NC_000001.11:155904754:CA: Analogous +NM_001365999.1:c.7277C>T NP_001352928.1:p.Ala2426Val NC_000001.11:43440518:C:T p.(Ala2426Val) NC_000001.11:43440518:C:T p.(Ala2426Val) NC_000001.11:43440518:C:T Identity +NM_012448.4:c.431T>A NP_036580.2:p.Ile144Asn NC_000017.11:42223500:A:T p.(Ile144Asn) NC_000017.11:42223500:A:T p.(Ile144Asn) NC_000017.11:42223500:A:T Identity +NM_000263.4:c.2205C>A NP_000254.2:p.Tyr735Ter NC_000017.11:42544210:C:A p.(Tyr735Ter) NC_000017.11:42544210:C:A p.(Tyr735Ter) NC_000017.11:42544210:C:A Identity +NM_000038.6:c.3163ATA[1] NP_000029.2:p.Ile1056del NC_000005.10:112838756:ATAATA:ATA p.(Ile1056del) NC_000005.10:112838756:A:ATA ERR:Parse ERR:Parse Identity +NM_002439.5:c.3389A>T NP_002430.3:p.Glu1130Val NC_000005.10:80875836:A:T p.(Glu1130Val) NC_000005.10:80875836:A:T p.(Glu1130Val) NC_000005.10:80875836:A:T Identity +NM_003184.4:c.3146A>G NP_003175.2:p.Asp1049Gly NC_000008.11:119744355:T:C p.(Asp1049Gly) NC_000008.11:119744355:T:C p.(Asp1049Gly) NC_000008.11:119744355:T:C Identity +NM_001363813.1:c.1543C>A NP_001350742.1:p.His515Asn NC_000017.11:65537492:G:T p.(His515Asn) NC_000017.11:65537492:G:T p.(His515Asn) NC_000017.11:65537492:G:T Identity +NM_001256560.2:c.432C>G NP_001243489.1:p.Asp144Glu NC_000003.12:58201020:G:C p.(Asp144Glu) NC_000003.12:58201020:G:C p.(Asp144Glu) NC_000003.12:58201020:G:C Identity +NM_001194998.2:c.2677G>C NP_001181927.1:p.Val893Leu NC_000015.10:48760151:C:G p.(Val893Leu) NC_000015.10:48760151:C:G p.(Val893Leu) NC_000015.10:48760151:C:G Identity +NM_000426.4:c.1160G>T NP_000417.3:p.Gly387Val NC_000006.12:129154636:G:T p.(Gly387Val) NC_000006.12:129154636:G:T p.(Gly387Val) NC_000006.12:129154636:G:T Identity +NM_001378454.1:c.4004C>G NP_001365383.1:p.Ser1335Ter NC_000002.12:73450530:C:G p.(Ser1335Ter) NC_000002.12:73450530:C:G p.(Ser1335Ter) NC_000002.12:73450530:C:G Identity +NM_001365819.1:c.4403G>A NP_001352748.1:p.Arg1468His NC_000022.11:50455299:C:T p.(Arg1468His) NC_000022.11:50455299:C:T p.(Arg1468His) NC_000022.11:50455299:C:T Identity +NM_001282489.3:c.121G>A NP_001269418.1:p.Glu41Lys NC_000017.11:74920405:C:T p.(Glu41Lys) NC_000017.11:74920405:C:T p.(Glu41Lys) NC_000017.11:74920405:C:T Identity +NM_001346083.2:c.1072G>T NP_001333012.1:p.Val358Leu NC_000001.11:205061962:G:T p.(Val358Leu) NC_000001.11:205061962:G:T p.(Val358Leu) NC_000001.11:205061962:G:T Identity +NM_000249.4:c.862A>T NP_000240.1:p.Thr288Ser NC_000003.12:37017576:A:T p.(Thr288Ser) NC_000003.12:37017576:A:T p.(Thr288Ser) NC_000003.12:37017576:A:T Identity +NM_007055.4:c.2737G>A NP_008986.2:p.Glu913Lys NC_000010.11:77993246:C:T p.(Glu913Lys) NC_000010.11:77993246:C:T p.(Glu913Lys) NC_000010.11:77993246:C:T Identity +NM_000411.8:c.17A>G NP_000402.3:p.His6Arg NC_000021.9:36938866:T:C p.(His6Arg) NC_000021.9:36938866:T:C p.(His6Arg) NC_000021.9:36938866:T:C Identity +NM_001256007.3:c.1142C>G NP_001242936.1:p.Thr381Ser NC_000007.14:108514207:G:C p.(Thr381Ser) NC_000007.14:108514207:G:C p.(Thr381Ser) NC_000007.14:108514207:G:C Identity +NM_014362.4:c.1045G>C NP_055177.2:p.Val349Leu NC_000002.12:190208879:C:G p.(Val349Leu) NC_000002.12:190208879:C:G p.(Val349Leu) NC_000002.12:190208879:C:G Identity +NM_000048.4:c.736G>A NP_000039.2:p.Ala246Thr NC_000007.14:66088823:G:A p.(Ala246Thr) NC_000007.14:66088823:G:A p.(Ala246Thr) NC_000007.14:66088823:G:A Identity +NM_001352500.2:c.1492C>T NP_001339429.1:p.His498Tyr NC_000013.11:49534225:G:A p.(His498Tyr) NC_000013.11:49534225:G:A p.(His498Tyr) NC_000013.11:49534225:G:A Identity +NM_198525.3:c.2441C>T NP_940927.2:p.Ser814Leu NC_000015.10:89633836:G:A p.(Ser814Leu) NC_000015.10:89633836:G:A p.(Ser814Leu) NC_000015.10:89633836:G:A Identity +NM_014727.3:c.6378T>A NP_055542.1:p.Asp2126Glu NC_000019.10:35732926:T:A p.(Asp2126Glu) NC_000019.10:35732926:T:A p.(Asp2126Glu) NC_000019.10:35732926:T:A Identity +NM_032634.4:c.2371G>A NP_116023.2:p.Ala791Thr NC_000009.12:35091515:C:T p.(Ala791Thr) NC_000009.12:35091515:C:T p.(Ala791Thr) NC_000009.12:35091515:C:T Identity +NM_001886.3:c.442G>T NP_001877.1:p.Ala148Ser NC_000022.11:26628428:G:T p.(Ala148Ser) NC_000022.11:26628428:G:T p.(Ala148Ser) NC_000022.11:26628428:G:T Identity +NM_001128844.3:c.4729G>A NP_001122316.1:p.Glu1577Lys NC_000019.10:11059845:G:A p.(Glu1577Lys) NC_000019.10:11059845:G:A p.(Glu1577Lys) NC_000019.10:11059845:G:A Identity +NM_001098268.2:c.2110T>C NP_001091738.1:p.Ser704Pro NC_000013.11:108209158:A:G p.(Ser704Pro) NC_000013.11:108209158:A:G p.(Ser704Pro) NC_000013.11:108209158:A:G Identity +NM_001321135.2:c.492C>G NP_001308064.1:p.Asn164Lys NC_000015.10:77028627:C:G p.(Asn164Lys) NC_000015.10:77028627:C:G p.(Asn164Lys) NC_000015.10:77028627:C:G Identity +NM_001201484.2:c.1867G>T NP_001188413.1:p.Val623Phe NC_000009.12:35089401:C:A p.(Val623Phe) NC_000009.12:35089401:C:A p.(Val623Phe) NC_000009.12:35089401:C:A Identity +NM_000485.3:c.442G>A NP_000476.1:p.Ala148Thr NC_000016.10:88809798:C:T p.(Ala148Thr) NC_000016.10:88809798:C:T p.(Ala148Thr) NC_000016.10:88809798:C:T Identity +NM_003737.4:c.8426A>G NP_003728.1:p.Tyr2809Cys NC_000011.10:6623249:T:C p.(Tyr2809Cys) NC_000011.10:6623249:T:C p.(Tyr2809Cys) NC_000011.10:6623249:T:C Identity +NM_032806.6:c.641C>G NP_116195.2:p.Pro214Arg NC_000003.12:43080790:G:C p.(Pro214Arg) NC_000003.12:43080790:G:C p.(Pro214Arg) NC_000003.12:43080790:G:C Identity +NM_001081640.2:c.10715T>C NP_001075109.1:p.Ile3572Thr NC_000008.11:47789193:A:G p.(Ile3572Thr) NC_000008.11:47789193:A:G p.(Ile3572Thr) NC_000008.11:47789193:A:G Identity +NM_001276479.2:c.131T>A NP_001263408.1:p.Val44Asp NC_000019.10:5719809:A:T p.(Val44Asp) NC_000019.10:5719809:A:T p.(Val44Asp) NC_000019.10:5719809:A:T Identity +NM_001379500.1:c.763C>T NP_001366429.1:p.Leu255Phe NC_000021.9:45475499:C:T p.(Leu255Phe) NC_000021.9:45475499:C:T p.(Leu255Phe) NC_000021.9:45475499:C:T Identity +NM_001407296.1:c.3473G>C NP_001394225.1:p.Gly1158Ala NC_000016.10:23603486:C:G p.(Gly1158Ala) NC_000016.10:23603486:C:G p.(Gly1158Ala) NC_000016.10:23603486:C:G Identity +NM_001367830.1:c.2507T>A NP_001354759.1:p.Val836Asp NC_000019.10:11235644:A:T p.(Val836Asp) NC_000019.10:11235644:A:T p.(Val836Asp) NC_000019.10:11235644:A:T Identity +NM_001243925.2:c.557C>T NP_001230854.1:p.Thr186Ile NC_000003.12:50644460:C:T p.(Thr186Ile) NC_000003.12:50644460:C:T p.(Thr186Ile) NC_000003.12:50644460:C:T Identity +NM_000445.5:c.3254C>T NP_000436.2:p.Pro1085Leu NC_000008.11:143929189:G:A p.(Pro1085Leu) NC_000008.11:143929189:G:A p.(Pro1085Leu) NC_000008.11:143929189:G:A Identity +NM_001001557.4:c.245C>A NP_001001557.1:p.Ala82Glu NC_000008.11:96160447:G:T p.(Ala82Glu) NC_000008.11:96160447:G:T p.(Ala82Glu) NC_000008.11:96160447:G:T Identity +NM_003906.5:c.5243G>A NP_003897.2:p.Cys1748Tyr NC_000021.9:46243517:C:T p.(Cys1748Tyr) NC_000021.9:46243517:C:T p.(Cys1748Tyr) NC_000021.9:46243517:C:T Identity +NM_001256849.1:c.1903G>C NP_001243778.1:p.Asp635His NC_000019.10:50409131:G:C p.(Asp635His) NC_000019.10:50409131:G:C p.(Asp635His) NC_000019.10:50409131:G:C Identity +NM_012079.6:c.1346A>G NP_036211.2:p.Gln449Arg NC_000008.11:144316674:T:C p.(Gln449Arg) NC_000008.11:144316674:T:C p.(Gln449Arg) NC_000008.11:144316674:T:C Identity +NM_007055.4:c.2855T>C NP_008986.2:p.Ile952Thr NC_000010.11:77991099:A:G p.(Ile952Thr) NC_000010.11:77991099:A:G p.(Ile952Thr) NC_000010.11:77991099:A:G Identity +NM_001407361.1:c.98C>T NP_001394290.1:p.Ala33Val NC_000001.11:17044862:G:A p.(Ala33Val) NC_000001.11:17044862:G:A p.(Ala33Val) NC_000001.11:17044862:G:A Identity +NM_025179.4:c.397T>C NP_079455.3:p.Tyr133His NC_000001.11:208217525:A:G p.(Tyr133His) NC_000001.11:208217525:A:G p.(Tyr133His) NC_000001.11:208217525:A:G Identity +NM_001363711.2:c.4330C>G NP_001350640.1:p.Leu1444Val NC_000015.10:45095000:G:C p.(Leu1444Val) NC_000015.10:45095000:G:C p.(Leu1444Val) NC_000015.10:45095000:G:C Identity +NM_001320923.2:c.2473A>G NP_001307852.1:p.Thr825Ala NC_000001.11:64841531:T:C p.(Thr825Ala) NC_000001.11:64841531:T:C p.(Thr825Ala) NC_000001.11:64841531:T:C Identity +NM_001143885.2:c.1132G>A NP_001137357.1:p.Ala378Thr NC_000012.12:79817500:C:T p.(Ala378Thr) NC_000012.12:79817500:C:T p.(Ala378Thr) NC_000012.12:79817500:C:T Identity +NM_001278463.2:c.1003C>G NP_001265392.1:p.Gln335Glu NC_000012.12:32722556:C:G p.(Gln335Glu) NC_000012.12:32722556:C:G p.(Gln335Glu) NC_000012.12:32722556:C:G Identity +NM_001031710.3:c.1366C>A NP_001026880.2:p.Pro456Thr NC_000007.14:23168023:C:A p.(Pro456Thr) NC_000007.14:23168023:C:A p.(Pro456Thr) NC_000007.14:23168023:C:A Identity +NM_001172643.1:c.592G>A NP_001166114.1:p.Ala198Thr NC_000016.10:66513744:C:T p.(Ala198Thr) NC_000016.10:66513744:C:T p.(Ala198Thr) NC_000016.10:66513744:C:T Identity +NM_000448.3:c.3094G>C NP_000439.2:p.Glu1032Gln NC_000011.10:36576397:G:C p.(Glu1032Gln) NC_000011.10:36576397:G:C p.(Glu1032Gln) NC_000011.10:36576397:G:C Identity +NM_001105206.3:c.122C>A NP_001098676.2:p.Ala41Glu NC_000006.12:112254028:G:T p.(Ala41Glu) NC_000006.12:112254028:G:T p.(Ala41Glu) NC_000006.12:112254028:G:T Identity +NM_000238.4:c.1241T>A NP_000229.1:p.Ile414Asn NC_000007.14:150952740:A:T p.(Ile414Asn) NC_000007.14:150952740:A:T p.(Ile414Asn) NC_000007.14:150952740:A:T Identity +NM_014714.4:c.4228A>G NP_055529.2:p.Asn1410Asp NC_000016.10:1511104:T:C p.(Asn1410Asp) NC_000016.10:1511104:T:C p.(Asn1410Asp) NC_000016.10:1511104:T:C Identity +NM_001130442.3:c.529_531del NP_001123914.1:p.Ser177del NC_000011.10:532674:ACT: p.(Ser177del) NC_000011.10:532674:ACT: p.(Ser177del) NC_000011.10:532674:ACT: Identity +NM_001143990.2:c.1129C>G NP_001137462.1:p.Pro377Ala NC_000017.11:7702516:C:G p.(Pro377Ala) NC_000017.11:7702516:C:G p.(Pro377Ala) NC_000017.11:7702516:C:G Identity +NM_001321378.2:c.7C>T NP_001308307.1:p.Gln3Ter NC_000011.10:17169734:G:A p.(Gln3Ter) NC_000011.10:17169734:G:A p.(Gln3Ter) NC_000011.10:17169734:G:A Identity +NM_000520.6:c.1491T>G NP_000511.2:p.Tyr497Ter NC_000015.10:72345480:A:C p.(Tyr497Ter) NC_000015.10:72345480:A:C p.(Tyr497Ter) NC_000015.10:72345480:A:C Identity +NM_000702.4:c.1726C>A NP_000693.1:p.Pro576Thr NC_000001.11:160130495:C:A p.(Pro576Thr) NC_000001.11:160130495:C:A p.(Pro576Thr) NC_000001.11:160130495:C:A Identity +NM_001040436.3:c.330_331del NP_001035526.1:p.Leu111fs NC_000012.12:32755543:GCGCG:GCG p.(Leu111GlyfsTer38) NC_000012.12:32755543:GCGCG:GCG p.(Leu111GlyfsTer38) NC_000012.12:32755543:GC: Analogous +NM_000396.4:c.1A>G NP_000387.1:p.Met1Val NC_000001.11:150806804:T:C p.(Met1Val) NC_000001.11:150806804:T:C p.Met1? NC_000001.11:150806804:T:C Identity +NM_001145288.2:c.443G>C NP_001138760.1:p.Gly148Ala NC_000012.12:100391088:G:C p.(Gly148Ala) NC_000012.12:100391088:G:C p.(Gly148Ala) NC_000012.12:100391088:G:C Identity +NM_001276289.2:c.877T>A NP_001263218.1:p.Phe293Ile NC_000017.11:68528976:T:A p.(Phe293Ile) NC_000017.11:68528976:T:A p.(Phe293Ile) NC_000017.11:68528976:T:A Identity +NM_001276760.3:c.277A>T NP_001263689.1:p.Lys93Ter NC_000017.11:7675217:T:A p.(Lys93Ter) NC_000017.11:7675217:T:A p.(Lys93Ter) NC_000017.11:7675217:T:A Identity +NM_000053.4:c.2755_2756insAA NP_000044.2:p.Arg919fs NC_000013.11:51949771::TT p.(Arg919GlnfsTer17) NC_000013.11:51949770:C:TT p.(Arg919GlnfsTer17) NC_000013.11:51949771:CG:TT Analogous +NM_002296.4:c.377G>A NP_002287.2:p.Gly126Glu NC_000001.11:225419787:C:T p.(Gly126Glu) NC_000001.11:225419787:C:T p.(Gly126Glu) NC_000001.11:225419787:C:T Identity +NM_000077.5:c.438T>G NP_000068.1:p.Asp146Glu NC_000009.12:21970920:A:C p.(Asp146Glu) NC_000009.12:21970920:A:C p.(Asp146Glu) NC_000009.12:21970920:A:C Identity +NM_001200001.2:c.1076C>G NP_001186930.1:p.Ser359Cys NC_000001.11:119969542:G:C p.(Ser359Cys) NC_000001.11:119969542:G:C p.(Ser359Cys) NC_000001.11:119969542:G:C Identity +NM_001378418.1:c.1724C>T NP_001365347.1:p.Pro575Leu NC_000022.11:42213581:G:A p.(Pro575Leu) NC_000022.11:42213581:G:A p.(Pro575Leu) NC_000022.11:42213581:G:A Identity +NM_001142864.4:c.6539T>G NP_001136336.2:p.Ile2180Ser NC_000016.10:88717143:A:C p.(Ile2180Ser) NC_000016.10:88717143:A:C p.(Ile2180Ser) NC_000016.10:88717143:A:C Identity +NM_000051.4:c.514T>G NP_000042.3:p.Phe172Val NC_000011.10:108243969:T:G p.(Phe172Val) NC_000011.10:108243969:T:G p.(Phe172Val) NC_000011.10:108243969:T:G Identity +NM_015909.4:c.336G>T NP_056993.2:p.Arg112Ser NC_000002.12:15551535:C:A p.(Arg112Ser) NC_000002.12:15551535:C:A p.(Arg112Ser) NC_000002.12:15551535:C:A Identity +NM_001136029.4:c.4156G>T NP_001129501.1:p.Ala1386Ser NC_000022.11:31893730:G:T p.(Ala1386Ser) NC_000022.11:31893730:G:T p.(Ala1386Ser) NC_000022.11:31893730:G:T Identity +NM_001320942.2:c.44A>G NP_001307871.2:p.Lys15Arg NC_000015.10:78463029:A:G p.(Lys15Arg) NC_000015.10:78463029:A:G p.(Lys15Arg) NC_000015.10:78463029:A:G Identity +NM_000256.3:c.1709A>G NP_000247.2:p.Asp570Gly NC_000011.10:47342071:T:C p.(Asp570Gly) NC_000011.10:47342071:T:C p.(Asp570Gly) NC_000011.10:47342071:T:C Identity +NM_001290309.3:c.2312A>G NP_001277238.1:p.Lys771Arg NC_000005.10:138933988:A:G p.(Lys771Arg) NC_000005.10:138933988:A:G p.(Lys771Arg) NC_000005.10:138933988:A:G Identity +NM_000310.4:c.722C>A NP_000301.1:p.Ser241Ter NC_000001.11:40078563:G:T p.(Ser241Ter) NC_000001.11:40078563:G:T p.(Ser241Ter) NC_000001.11:40078563:G:T Identity +NM_018180.3:c.157T>G NP_060650.2:p.Tyr53Asp NC_000010.11:125880667:A:C p.(Tyr53Asp) NC_000010.11:125880667:A:C p.(Tyr53Asp) NC_000010.11:125880667:A:C Identity +NM_000143.4:c.1269_1278del NP_000134.2:p.Gly424fs NC_000001.11:241500548:AGCATCCCCCAGCA:AGCA p.(Gly424GlnfsTer22) NC_000001.11:241500548:AGCATCCCCCAGCA:AGCA p.(Gly424GlnfsTer22) NC_000001.11:241500548:AGCATCCCCC: Analogous +NM_015909.4:c.60G>C NP_056993.2:p.Glu20Asp NC_000002.12:15561244:C:G p.(Glu20Asp) NC_000002.12:15561244:C:G p.(Glu20Asp) NC_000002.12:15561244:C:G Identity +NM_000081.4:c.10246C>T NP_000072.2:p.His3416Tyr NC_000001.11:235702874:G:A p.(His3416Tyr) NC_000001.11:235702874:G:A p.(His3416Tyr) NC_000001.11:235702874:G:A Identity +NM_005373.3:c.432dup NP_005364.1:p.Ser145fs NC_000001.11:43339308:GGG:GGGG p.(Ser145GlufsTer19) NC_000001.11:43339308:GGG:GGGG p.(Ser145GlufsTer19) ERR:SPDI Analogous +NM_000548.5:c.1189C>T NP_000539.2:p.Gln397Ter NC_000016.10:2061939:C:T p.(Gln397Ter) NC_000016.10:2061939:C:T p.(Gln397Ter) NC_000016.10:2061939:C:T Identity +NM_000109.4:c.1453C>T NP_000100.3:p.His485Tyr NC_000023.11:32614307:G:A p.(His485Tyr) NC_000023.11:32614307:G:A p.(His485Tyr) NC_000023.11:32614307:G:A Identity +NM_001320923.2:c.322C>T NP_001307852.1:p.Arg108Trp NC_000001.11:64879031:G:A p.(Arg108Trp) NC_000001.11:64879031:G:A p.(Arg108Trp) NC_000001.11:64879031:G:A Identity +NM_001007188.4:c.881C>T NP_001007189.1:p.Pro294Leu NC_000022.11:31798590:C:T p.(Pro294Leu) NC_000022.11:31798590:C:T p.(Pro294Leu) NC_000022.11:31798590:C:T Identity +NM_001365536.1:c.500C>A NP_001352465.1:p.Ser167Ter NC_000002.12:166305887:G:T p.(Ser167Ter) NC_000002.12:166305887:G:T p.(Ser167Ter) NC_000002.12:166305887:G:T Identity +NM_001127198.5:c.761C>A NP_001120670.1:p.Thr254Asn NC_000017.11:78124653:G:T p.(Thr254Asn) NC_000017.11:78124653:G:T p.(Thr254Asn) NC_000017.11:78124653:G:T Identity +NM_001317163.2:c.586A>G NP_001304092.1:p.Ile196Val NC_000009.12:121034818:T:C p.(Ile196Val) NC_000009.12:121034818:T:C p.(Ile196Val) NC_000009.12:121034818:T:C Identity +NM_000718.4:c.2641G>A NP_000709.1:p.Ala881Thr NC_000009.12:138023383:G:A p.(Ala881Thr) NC_000009.12:138023383:G:A p.(Ala881Thr) NC_000009.12:138023383:G:A Identity +NM_006231.4:c.3069C>A NP_006222.2:p.Asn1023Lys NC_000012.12:132659500:G:T p.(Asn1023Lys) NC_000012.12:132659500:G:T p.(Asn1023Lys) NC_000012.12:132659500:G:T Identity +NM_004446.3:c.732A>C NP_004437.2:p.Glu244Asp NC_000001.11:220025149:T:G p.(Glu244Asp) NC_000001.11:220025149:T:G p.(Glu244Asp) NC_000001.11:220025149:T:G Identity +NM_001316350.2:c.732G>C NP_001303279.1:p.Glu244Asp NC_000001.11:231266155:G:C p.(Glu244Asp) NC_000001.11:231266155:G:C p.(Glu244Asp) NC_000001.11:231266155:G:C Identity +NM_000426.4:c.8676C>G NP_000417.3:p.Ile2892Met NC_000006.12:129505327:C:G p.(Ile2892Met) NC_000006.12:129505327:C:G p.(Ile2892Met) NC_000006.12:129505327:C:G Identity +NM_000081.4:c.10708A>G NP_000072.2:p.Ser3570Gly NC_000001.11:235687040:T:C p.(Ser3570Gly) NC_000001.11:235687040:T:C p.(Ser3570Gly) NC_000001.11:235687040:T:C Identity +NM_000322.5:c.666C>A NP_000313.2:p.Cys222Ter NC_000006.12:42704526:G:T p.(Cys222Ter) NC_000006.12:42704526:G:T p.(Cys222Ter) NC_000006.12:42704526:G:T Identity +NM_001123226.2:c.724del NP_001116698.1:p.Arg242fs NC_000006.12:73473549:CCCC:CCC p.(Arg242GlufsTer12) NC_000006.12:73473549:CCCC:CCC p.(Arg242GlufsTer12) NC_000006.12:73473552:C: Analogous +NM_033071.5:c.1156T>C NP_149062.2:p.Ser386Pro NC_000006.12:152484884:A:G p.(Ser386Pro) NC_000006.12:152484884:A:G p.(Ser386Pro) NC_000006.12:152484884:A:G Identity +NM_000465.4:c.2144A>G NP_000456.2:p.Gln715Arg NC_000002.12:214728865:T:C p.(Gln715Arg) NC_000002.12:214728865:T:C p.(Gln715Arg) NC_000002.12:214728865:T:C Identity +NM_000109.4:c.1174C>G NP_000100.3:p.Leu392Val NC_000023.11:32644264:G:C p.(Leu392Val) NC_000023.11:32644264:G:C p.(Leu392Val) NC_000023.11:32644264:G:C Identity +NM_000260.4:c.2296A>G NP_000251.3:p.Lys766Glu NC_000011.10:77179057:A:G p.(Lys766Glu) NC_000011.10:77179057:A:G p.(Lys766Glu) NC_000011.10:77179057:A:G Identity +NM_000553.6:c.3666del NP_000544.2:p.Cys1223fs NC_000008.11:31150433:C: p.(Cys1223AlafsTer25) NC_000008.11:31150433:C: p.(Cys1223AlafsTer25) NC_000008.11:31150433:C: Analogous +NM_000179.3:c.3409_3411del NP_000170.1:p.Met1137del NC_000002.12:47803655:ATG: p.(Met1137del) NC_000002.12:47803655:ATG: p.(Met1137del) NC_000002.12:47803655:ATG: Identity +NM_139025.5:c.1298G>A NP_620594.1:p.Cys433Tyr NC_000009.12:133433693:G:A p.(Cys433Tyr) NC_000009.12:133433693:G:A p.(Cys433Tyr) NC_000009.12:133433693:G:A Identity +NM_001306079.2:c.5991C>G NP_001293008.1:p.Ile1997Met NC_000002.12:27242384:C:G p.(Ile1997Met) NC_000002.12:27242384:C:G p.(Ile1997Met) NC_000002.12:27242384:C:G Identity +NM_001256850.1:c.53253del NP_001243779.1:p.Phe17751fs NC_000002.12:178594216:G: p.(Phe17751LeufsTer44) NC_000002.12:178594216:G: p.(Phe17751LeufsTer44) NC_000002.12:178594216:G: Analogous +NM_014249.4:c.199dup NP_055064.1:p.Cys67fs NC_000015.10:71811562:T:TT p.(Cys67LeufsTer74) NC_000015.10:71811562:T:TT p.(Cys67LeufsTer74) ERR:SPDI Analogous +NM_001026.5:c.47G>T NP_001017.1:p.Arg16Leu NC_000010.11:78035394:G:T p.(Arg16Leu) NC_000010.11:78035394:G:T p.(Arg16Leu) NC_000010.11:78035394:G:T Identity +NM_000057.4:c.1421T>C NP_000048.1:p.Leu474Pro NC_000015.10:90760793:T:C p.(Leu474Pro) NC_000015.10:90760793:T:C p.(Leu474Pro) NC_000015.10:90760793:T:C Identity +NM_001184728.3:c.19C>T NP_001171657.1:p.Leu7Phe NC_000020.11:45416174:C:T p.(Leu7Phe) NC_000020.11:45416174:C:T p.(Leu7Phe) NC_000020.11:45416174:C:T Identity +NM_000663.5:c.65T>A NP_000654.2:p.Val22Glu NC_000016.10:8735803:T:A p.(Val22Glu) NC_000016.10:8735803:T:A p.(Val22Glu) NC_000016.10:8735803:T:A Identity +NM_000278.5:c.1022G>T NP_000269.3:p.Gly341Val NC_000010.11:100827008:G:T p.(Gly341Val) NC_000010.11:100827008:G:T p.(Gly341Val) NC_000010.11:100827008:G:T Identity +NM_000165.5:c.402G>C NP_000156.1:p.Lys134Asn NC_000006.12:121447248:G:C p.(Lys134Asn) NC_000006.12:121447248:G:C p.(Lys134Asn) NC_000006.12:121447248:G:C Identity +NM_001563.4:c.290A>G NP_001554.2:p.Tyr97Cys NC_000006.12:76041903:T:C p.(Tyr97Cys) NC_000006.12:76041903:T:C p.(Tyr97Cys) NC_000006.12:76041903:T:C Identity +NM_000208.4:c.3489A>C NP_000199.2:p.Arg1163Ser NC_000019.10:7122653:T:G p.(Arg1163Ser) NC_000019.10:7122653:T:G p.(Arg1163Ser) NC_000019.10:7122653:T:G Identity +NM_001005407.2:c.3883A>G NP_001005407.1:p.Met1295Val NC_000016.10:1210406:A:G p.(Met1295Val) NC_000016.10:1210406:A:G p.(Met1295Val) NC_000016.10:1210406:A:G Identity +NM_178857.6:c.370C>G NP_849188.4:p.Pro124Ala NC_000008.11:10622831:G:C p.(Pro124Ala) NC_000008.11:10622831:G:C p.(Pro124Ala) NC_000008.11:10622831:G:C Identity +NM_003632.3:c.3843G>A NP_003623.1:p.Trp1281Ter NC_000017.11:42697930:G:A p.(Trp1281Ter) NC_000017.11:42697930:G:A p.(Trp1281Ter) NC_000017.11:42697930:G:A Identity +NM_001007204.1:c.193G>C NP_001007205.1:p.Ala65Pro NC_000001.11:156861126:G:C ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_000256.3:c.1022G>T NP_000247.2:p.Gly341Val NC_000011.10:47346274:C:A p.(Gly341Val) NC_000011.10:47346274:C:A p.(Gly341Val) NC_000011.10:47346274:C:A Identity +NM_001256850.1:c.88365T>A NP_001243779.1:p.Tyr29455Ter NC_000002.12:178548337:A:T p.(Tyr29455Ter) NC_000002.12:178548337:A:T p.(Tyr29455Ter) NC_000002.12:178548337:A:T Identity +NM_001291902.2:c.929dup NP_001278831.1:p.Asp310fs NC_000011.10:68413856:A:AA p.(Asp310GlufsTer15) NC_000011.10:68413856:A:AA p.(Asp310GlufsTer15) ERR:SPDI Analogous +NM_001130110.2:c.514dup NP_001123582.1:p.Ser172fs NC_000018.10:44869256:A:AA p.(Ser172LysfsTer2) NC_000018.10:44869256:A:AA p.(Ser172LysfsTer2) ERR:SPDI Analogous +NM_001278055.2:c.3445C>G NP_001264984.1:p.His1149Asp NC_000013.11:23339989:G:C p.(His1149Asp) NC_000013.11:23339989:G:C p.(His1149Asp) NC_000013.11:23339989:G:C Identity +NM_006269.2:c.5079G>T NP_006260.1:p.Leu1693Phe NC_000008.11:54628960:G:T p.(Leu1693Phe) NC_000008.11:54628960:G:T p.(Leu1693Phe) NC_000008.11:54628960:G:T Identity +NM_000066.4:c.667del NP_000057.3:p.Thr223fs NC_000001.11:56949751:T: p.(Thr223ProfsTer9) NC_000001.11:56949751:T: p.(Thr223ProfsTer9) NC_000001.11:56949751:T: Analogous +NM_000051.4:c.4705G>T NP_000042.3:p.Val1569Phe NC_000011.10:108293405:G:T p.(Val1569Phe) NC_000011.10:108293405:G:T p.(Val1569Phe) NC_000011.10:108293405:G:T Identity +NM_014053.4:c.1555A>T NP_054772.1:p.Asn519Tyr NC_000001.11:212895014:A:T p.(Asn519Tyr) NC_000001.11:212895014:A:T p.(Asn519Tyr) NC_000001.11:212895014:A:T Identity +NM_001031681.3:c.985A>G NP_001026851.2:p.Ile329Val NC_000017.11:3660249:A:G p.(Ile329Val) NC_000017.11:3660249:A:G p.(Ile329Val) NC_000017.11:3660249:A:G Identity +NM_001317184.2:c.307T>G NP_001304113.1:p.Trp103Gly NC_000016.10:68801812:T:G p.(Trp103Gly) NC_000016.10:68801812:T:G p.(Trp103Gly) NC_000016.10:68801812:T:G Identity +NM_003801.4:c.202G>T NP_003792.1:p.Asp68Tyr NC_000008.11:144083250:G:T p.(Asp68Tyr) NC_000008.11:144083250:G:T p.(Asp68Tyr) NC_000008.11:144083250:G:T Identity +NM_001378120.1:c.5103_5104del NP_001365049.1:p.Met1701fs NC_000002.12:148510124:TGT:T p.(Met1701IlefsTer11) NC_000002.12:148510124:TGT:T p.(Met1701IlefsTer11) NC_000002.12:148510125:GT: Analogous +NM_138477.4:c.699_702dup NP_612486.2:p.Pro235Ter NC_000015.10:42735945:GCTAG:GCTAGCTAG p.(Pro235Ter) NC_000015.10:42735945:GCTAG:GCTAGCTAG p.(Pro235Ter) ERR:SPDI Identity +NM_001379500.1:c.3335C>T NP_001366429.1:p.Thr1112Ile NC_000021.9:45509440:C:T p.(Thr1112Ile) NC_000021.9:45509440:C:T p.(Thr1112Ile) NC_000021.9:45509440:C:T Identity +NM_001256182.2:c.2092G>A NP_001243111.1:p.Glu698Lys NC_000016.10:89284449:C:T p.(Glu698Lys) NC_000016.10:89284449:C:T p.(Glu698Lys) NC_000016.10:89284449:C:T Identity +NM_001291902.2:c.931A>G NP_001278831.1:p.Ile311Val NC_000011.10:68413858:A:G p.(Ile311Val) NC_000011.10:68413858:A:G p.(Ile311Val) NC_000011.10:68413858:A:G Identity +NM_001297614.3:c.2240A>G NP_001284543.1:p.Lys747Arg NC_000006.12:85517756:T:C p.(Lys747Arg) NC_000006.12:85517756:T:C p.(Lys747Arg) NC_000006.12:85517756:T:C Identity +NM_001256850.1:c.35419del NP_001243779.1:p.Arg11807fs NC_000002.12:178645985:TT:T p.(Arg11807AspfsTer14) NC_000002.12:178645985:TT:T p.(Arg11807AspfsTer14) NC_000002.12:178645985:T: Analogous +NM_001411101.1:c.1388C>T NP_001398030.1:p.Pro463Leu NC_000017.11:82870343:C:T p.(Pro463Leu) NC_000017.11:82870343:C:T p.(Pro463Leu) NC_000017.11:82870343:C:T Identity +NM_000256.3:c.1661T>A NP_000247.2:p.Leu554Gln NC_000011.10:47342119:A:T p.(Leu554Gln) NC_000011.10:47342119:A:T p.(Leu554Gln) NC_000011.10:47342119:A:T Identity +NM_016653.3:c.619A>C NP_057737.2:p.Lys207Gln NC_000002.12:173198061:A:C p.(Lys207Gln) NC_000002.12:173198061:A:C p.(Lys207Gln) NC_000002.12:173198061:A:C Identity +NM_032861.4:c.1926_1930del NP_116250.3:p.Gln642fs NC_000006.12:158111400:TGAATTG:TG p.(Gln642HisfsTer3) NC_000006.12:158111400:TGAATTG:TG p.(Gln642HisfsTer3) NC_000006.12:158111400:TGAAT: Analogous +NM_032228.6:c.1307ACT[1] NP_115604.1:p.Tyr437del NC_000011.10:13727604:ACTACT:ACT p.(Tyr437del) NC_000011.10:13727604:A:ACT ERR:Parse ERR:Parse Identity +NM_020921.4:c.3199C>G NP_065972.4:p.Leu1067Val NC_000014.9:50757830:G:C p.(Leu1067Val) NC_000014.9:50757830:G:C p.(Leu1067Val) NC_000014.9:50757830:G:C Identity +NM_025114.4:c.6424dup NP_079390.3:p.Glu2142fs NC_000012.12:88060927:C:CC p.(Glu2142GlyfsTer8) NC_000012.12:88060927:C:CC p.(Glu2142GlyfsTer8) ERR:SPDI Analogous +NM_000282.4:c.497C>T NP_000273.2:p.Pro166Leu NC_000013.11:100209359:C:T p.(Pro166Leu) NC_000013.11:100209359:C:T p.(Pro166Leu) NC_000013.11:100209359:C:T Identity +NM_001256850.1:c.26359_26363del NP_001243779.1:p.Thr8787fs NC_000002.12:178712710:TGTGTTGT:TGT p.(Thr8787SerfsTer15) NC_000002.12:178712710:TGTGTTGT:TGT p.(Thr8787SerfsTer15) NC_000002.12:178712710:TGTGT: Analogous +NM_001256182.2:c.2607dup NP_001243111.1:p.Ser870fs NC_000016.10:89283934:C:CC p.(Ser870GlufsTer46) NC_000016.10:89283934:C:CC p.(Ser870GlufsTer46) ERR:SPDI Analogous +NM_000138.5:c.8242G>T NP_000129.3:p.Glu2748Ter NC_000015.10:48411363:C:A p.(Glu2748Ter) NC_000015.10:48411363:C:A p.(Glu2748Ter) NC_000015.10:48411363:C:A Identity +NM_002156.5:c.1429A>G NP_002147.2:p.Met477Val NC_000002.12:197487997:T:C p.(Met477Val) NC_000002.12:197487997:T:C p.(Met477Val) NC_000002.12:197487997:T:C Identity +NM_001363729.2:c.1104_1111dup NP_001350658.1:p.Arg371fs NC_000020.11:36912503:GGTGTAAAG:GGTGTAAAGGTGTAAAG p.(Arg371LeufsTer18) NC_000020.11:36912503:GGTGTAAAG:GGTGTAAAGGTGTAAAG p.(Arg371LeufsTer18) ERR:SPDI Analogous +NM_001008222.3:c.328G>A NP_001008223.1:p.Glu110Lys NC_000023.11:129828980:C:T p.(Glu110Lys) NC_000023.11:129828980:C:T p.(Glu110Lys) NC_000023.11:129828980:C:T Identity +NM_000280.6:c.556_557insCC NP_000271.1:p.Asn186fs NC_000011.10:31794755::GG p.(Asn186ThrfsTer22) NC_000011.10:31794754:T:GG p.(Asn186ThrfsTer22) NC_000011.10:31794755:TT:GG Analogous +NM_014975.3:c.3988C>T NP_055790.1:p.Arg1330Cys NC_000019.10:12874144:C:T p.(Arg1330Cys) NC_000019.10:12874144:C:T p.(Arg1330Cys) NC_000019.10:12874144:C:T Identity +NM_198525.3:c.895del NP_940927.2:p.Ile299fs NC_000015.10:89649001:T: p.(Ile299TyrfsTer23) NC_000015.10:89649001:T: p.(Ile299TyrfsTer23) NC_000015.10:89649001:T: Analogous +NM_001257158.2:c.14G>A NP_001244087.1:p.Arg5Lys NC_000007.14:130440952:C:T p.(Arg5Lys) NC_000007.14:130440952:C:T p.(Arg5Lys) NC_000007.14:130440952:C:T Identity +NM_001105077.4:c.1332G>C NP_001098547.3:p.Glu444Asp NC_000003.12:169116170:C:G p.(Glu444Asp) NC_000003.12:169116170:C:G p.(Glu444Asp) NC_000003.12:169116170:C:G Identity +NM_001159291.2:c.2716A>T NP_001152763.1:p.Met906Leu NC_000006.12:109444902:T:A p.(Met906Leu) NC_000006.12:109444902:T:A p.(Met906Leu) NC_000006.12:109444902:T:A Identity +NM_022726.4:c.906del NP_073563.1:p.Asn302fs NC_000006.12:79916646:A: p.(Asn302LysfsTer79) NC_000006.12:79916646:A: p.(Asn302LysfsTer79) NC_000006.12:79916646:A: Analogous +NM_018941.4:c.109_112dup NP_061764.2:p.Val38fs NC_000008.11:1771161:GGGCG:GGGCGGGCG p.(Val38GlyfsTer81) NC_000008.11:1771161:GGGCG:GGGCGGGCG p.(Val38GlyfsTer81) ERR:SPDI Analogous +NM_001406544.1:c.3144delG NP_001393473.1:p.Val1049Cysfs NC_000013.11:51937651:CC:C p.(Val1049CysfsTer87) NC_000013.11:51937651:CC:C p.(Val1049CysfsTer87) NC_000013.11:51937652:C: Analogous +NM_000360.4:c.982_991del NP_000351.2:p.Cys328fs NC_000011.10:2166535:CGTGGCAGCA: p.(Cys328SerfsTer55) NC_000011.10:2166535:CGTGGCAGCA: p.(Cys328SerfsTer55) NC_000011.10:2166535:CGTGGCAGCA: Analogous +NM_001384732.1:c.9514A>T NP_001371661.1:p.Ser3172Cys NC_000005.10:37108357:T:A p.(Ser3172Cys) NC_000005.10:37108357:T:A p.(Ser3172Cys) NC_000005.10:37108357:T:A Identity +NM_005559.4:c.7628_7632del NP_005550.2:p.Pro2543fs NC_000018.10:6959486:GAAGGG:G p.(Pro2543LeufsTer11) NC_000018.10:6959486:GAAGGG:G p.(Pro2543LeufsTer11) NC_000018.10:6959486:GAAGG: Analogous +NM_020693.4:c.2961T>A NP_065744.3:p.Asp987Glu NC_000011.10:117469972:A:T p.(Asp987Glu) NC_000011.10:117469972:A:T p.(Asp987Glu) NC_000011.10:117469972:A:T Identity +NM_001001438.3:c.1529A>G NP_001001438.1:p.His510Arg NC_000021.9:46206706:T:C p.(His510Arg) NC_000021.9:46206706:T:C p.(His510Arg) NC_000021.9:46206706:T:C Identity +NM_004415.4:c.5011del NP_004406.2:p.Glu1671fs NC_000006.12:7581199:GG:G p.(Glu1671AsnfsTer10) NC_000006.12:7581199:GG:G p.(Glu1671AsnfsTer10) NC_000006.12:7581200:G: Analogous +NM_000093.5:c.3317_3333del NP_000084.3:p.Arg1106fs NC_000009.12:134806239:CCAGGGAGACCTGGGCCCCAGGGA:CCAGGGA p.(Arg1106ThrfsTer47) NC_000009.12:134806239:CCAGGGAGACCTGGGCCCCAGGGA:CCAGGGA p.(Arg1106ThrfsTer47) NC_000009.12:134806246:GACCTGGGCCCCAGGGA: Analogous +NM_001029883.3:c.3101T>C NP_001025054.1:p.Val1034Ala NC_000002.12:29071160:A:G p.(Val1034Ala) NC_000002.12:29071160:A:G p.(Val1034Ala) NC_000002.12:29071160:A:G Identity +NM_207346.3:c.1575dup NP_997229.2:p.His526fs NC_000017.11:75524402:GGGG:GGGGG p.(His526AlafsTer34) NC_000017.11:75524402:GGGG:GGGGG p.(His526AlafsTer34) ERR:SPDI Analogous +NM_001318360.2:c.3397G>A NP_001305289.1:p.Glu1133Lys NC_000009.12:108878110:C:T p.(Glu1133Lys) NC_000009.12:108878110:C:T p.(Glu1133Lys) NC_000009.12:108878110:C:T Identity +NM_001201543.2:c.1945G>A NP_001188472.1:p.Gly649Arg NC_000002.12:61827164:C:T p.(Gly649Arg) NC_000002.12:61827164:C:T p.(Gly649Arg) NC_000002.12:61827164:C:T Identity +NM_000833.5:c.476del NP_000824.1:p.Leu159fs NC_000016.10:9938489:A: p.(Leu159ArgfsTer15) NC_000016.10:9938489:A: p.(Leu159ArgfsTer15) NC_000016.10:9938489:A: Analogous +NM_006734.4:c.3044C>T NP_006725.3:p.Ser1015Leu NC_000006.12:142771694:G:A p.(Ser1015Leu) NC_000006.12:142771694:G:A p.(Ser1015Leu) NC_000006.12:142771694:G:A Identity +NM_000286.3:c.1024A>G NP_000277.1:p.Thr342Ala NC_000017.11:35575837:T:C p.(Thr342Ala) NC_000017.11:35575837:T:C p.(Thr342Ala) NC_000017.11:35575837:T:C Identity +NM_001326358.2:c.2911del NP_001313287.1:p.Val971fs NC_000016.10:77289386:CCCC:CCC p.(Val971SerfsTer47) NC_000016.10:77289386:CCCC:CCC p.(Val971SerfsTer47) NC_000016.10:77289386:C: Analogous +NM_003680.4:c.622G>A NP_003671.1:p.Val208Ile NC_000001.11:32791223:C:T p.(Val208Ile) NC_000001.11:32791223:C:T p.(Val208Ile) NC_000001.11:32791223:C:T Identity +NM_001145661.2:c.423C>G NP_001139133.1:p.Tyr141Ter NC_000003.12:128486174:G:C p.(Tyr141Ter) NC_000003.12:128486174:G:C p.(Tyr141Ter) NC_000003.12:128486174:G:C Identity +NM_000785.4:c.1108C>A NP_000776.1:p.Leu370Met NC_000012.12:57764405:G:T p.(Leu370Met) NC_000012.12:57764405:G:T p.(Leu370Met) NC_000012.12:57764405:G:T Identity +NM_001077416.2:c.156G>A NP_001070884.2:p.Leu52= NC_000016.10:75556115:C:T p.(Leu52=) NC_000016.10:75556115:C:T p.(Leu52=) NC_000016.10:75556115:C:T Identity +NM_016653.3:c.682C>T NP_057737.2:p.Pro228Ser NC_000002.12:173203807:C:T p.(Pro228Ser) NC_000002.12:173203807:C:T p.(Pro228Ser) NC_000002.12:173203807:C:T Identity +NM_032444.4:c.3934A>G NP_115820.2:p.Arg1312Gly NC_000016.10:3589703:T:C p.(Arg1312Gly) NC_000016.10:3589703:T:C p.(Arg1312Gly) NC_000016.10:3589703:T:C Identity +NM_001318245.2:c.4720C>T NP_001305174.1:p.Gln1574Ter NC_000022.11:25898354:C:T p.(Gln1574Ter) NC_000022.11:25898354:C:T p.(Gln1574Ter) NC_000022.11:25898354:C:T Identity +NM_001171170.2:c.706C>T NP_001164641.1:p.Gln236Ter NC_000014.9:36684822:G:A p.(Gln236Ter) NC_000014.9:36684822:G:A p.(Gln236Ter) NC_000014.9:36684822:G:A Identity +NM_001363734.1:c.470T>C NP_001350663.1:p.Val157Ala NC_000020.11:32429365:T:C p.(Val157Ala) NC_000020.11:32429365:T:C p.(Val157Ala) NC_000020.11:32429365:T:C Identity +NM_001370534.1:c.1943G>A NP_001357463.1:p.Arg648Gln NC_000016.10:74628477:C:T p.(Arg648Gln) NC_000016.10:74628477:C:T p.(Arg648Gln) NC_000016.10:74628477:C:T Identity +NM_000159.4:c.204G>C NP_000150.1:p.Arg68Ser NC_000019.10:12891906:G:C p.(Arg68Ser) NC_000019.10:12891906:G:C p.(Arg68Ser) NC_000019.10:12891906:G:C Identity +NM_001256182.2:c.6045C>A NP_001243111.1:p.Tyr2015Ter NC_000016.10:89280496:G:T p.(Tyr2015Ter) NC_000016.10:89280496:G:T p.(Tyr2015Ter) NC_000016.10:89280496:G:T Identity +NM_001077182.3:c.818_819del NP_001070650.1:p.Val273fs NC_000017.11:81529346:TGTG:TG p.(Val273AlafsTer12) NC_000017.11:81529346:TGTG:TG p.(Val273AlafsTer12) NC_000017.11:81529348:TG: Analogous +NM_000328.3:c.1235G>A NP_000319.1:p.Arg412Gln NC_000023.11:38298965:C:T p.(Arg412Gln) NC_000023.11:38298965:C:T p.(Arg412Gln) NC_000023.11:38298965:C:T Identity +NM_000086.2:c.1043T>C NP_000077.1:p.Leu348Pro NC_000016.10:28482117:A:G p.(Leu348Pro) NC_000016.10:28482117:A:G p.(Leu348Pro) NC_000016.10:28482117:A:G Identity +NM_001008844.3:c.6243dup NP_001008844.1:p.Asp2082Ter NC_000006.12:7585300:TT:TTT p.(Asp2082Ter) NC_000006.12:7585300:TT:TTT p.(Asp2082Ter) ERR:SPDI Identity +NM_000166.6:c.133G>C NP_000157.1:p.Gly45Arg NC_000023.11:71223839:G:C p.(Gly45Arg) NC_000023.11:71223839:G:C p.(Gly45Arg) NC_000023.11:71223839:G:C Identity +NM_001291860.2:c.1656_1657insT NP_001278789.1:p.Gly553fs NC_000001.11:21884528::A p.(Gly553TrpfsTer49) NC_000001.11:21884527:C:A p.(Gly553TrpfsTer49) NC_000001.11:21884528:CC:A Analogous +NM_006343.3:c.880A>C NP_006334.2:p.Asn294His NC_000002.12:111968171:A:C p.(Asn294His) NC_000002.12:111968171:A:C p.(Asn294His) NC_000002.12:111968171:A:C Identity +NM_001128931.2:c.653C>G NP_001122403.1:p.Thr218Ser NC_000004.12:163145845:G:C p.(Thr218Ser) NC_000004.12:163145845:G:C p.(Thr218Ser) NC_000004.12:163145845:G:C Identity +NM_024312.5:c.905_908del NP_077288.2:p.Leu302fs NC_000012.12:101771020:AATAAATA:AATA p.(Leu302TyrfsTer4) NC_000012.12:101771020:AATAAATA:AATA p.(Leu302TyrfsTer4) NC_000012.12:101771020:AATA: Analogous +NM_001184751.2:c.1549C>T NP_001171680.1:p.Arg517Cys NC_000011.10:46705272:C:T p.(Arg517Cys) NC_000011.10:46705272:C:T p.(Arg517Cys) NC_000011.10:46705272:C:T Identity +NM_198834.3:c.5737C>T NP_942131.1:p.His1913Tyr NC_000017.11:37130160:G:A p.(His1913Tyr) NC_000017.11:37130160:G:A p.(His1913Tyr) NC_000017.11:37130160:G:A Identity +NM_001256850.1:c.100574G>A NP_001243779.1:p.Gly33525Glu NC_000002.12:178531117:C:T p.(Gly33525Glu) NC_000002.12:178531117:C:T p.(Gly33525Glu) NC_000002.12:178531117:C:T Identity +NM_000492.4:c.131A>T NP_000483.3:p.Asp44Val NC_000007.14:117504329:A:T p.(Asp44Val) NC_000007.14:117504329:A:T p.(Asp44Val) NC_000007.14:117504329:A:T Identity +NM_001282225.2:c.1055del NP_001269154.1:p.Pro352fs NC_000022.11:17188364:GG:G p.(Pro352LeufsTer16) NC_000022.11:17188364:GG:G p.(Pro352LeufsTer16) NC_000022.11:17188364:G: Analogous +NM_000747.3:c.1072_1073del NP_000738.2:p.Leu358fs NC_000017.11:7455310:CT: p.(Leu358AlafsTer31) NC_000017.11:7455310:CT: p.(Leu358AlafsTer31) NC_000017.11:7455310:CT: Analogous +NM_006261.5:c.95del NP_006252.4:p.Pro32fs NC_000005.10:177995838:GGGG:GGG p.(Pro32ArgfsTer133) NC_000005.10:177995838:GGGG:GGG p.(Pro32ArgfsTer133) NC_000005.10:177995838:G: Analogous +NM_001848.3:c.310_311del NP_001839.2:p.Thr104fs NC_000021.9:45984349:CAC:C p.(Thr104AlafsTer47) NC_000021.9:45984349:CAC:C p.(Thr104AlafsTer47) NC_000021.9:45984350:AC: Analogous +NM_001127208.3:c.5143G>A NP_001120680.1:p.Val1715Ile NC_000004.12:105275652:G:A p.(Val1715Ile) NC_000004.12:105275652:G:A p.(Val1715Ile) NC_000004.12:105275652:G:A Identity +NM_000784.4:c.555del NP_000775.1:p.Phe185fs NC_000002.12:218812327:TTT:TT p.(Phe185LeufsTer2) NC_000002.12:218812327:TTT:TT p.(Phe185LeufsTer2) NC_000002.12:218812329:T: Analogous +NM_001165963.4:c.4594G>T NP_001159435.1:p.Gly1532Ter NC_000002.12:165994403:C:A p.(Gly1532Ter) NC_000002.12:165994403:C:A p.(Gly1532Ter) NC_000002.12:165994403:C:A Identity +NM_001077416.2:c.795T>G NP_001070884.2:p.His265Gln NC_000016.10:75542629:A:C p.(His265Gln) NC_000016.10:75542629:A:C p.(His265Gln) NC_000016.10:75542629:A:C Identity +NM_001369373.1:c.955G>A NP_001356302.1:p.Gly319Arg NC_000023.11:111301719:C:T p.(Gly319Arg) NC_000023.11:111301719:C:T p.(Gly319Arg) NC_000023.11:111301719:C:T Identity +NM_001256850.1:c.9325A>T NP_001243779.1:p.Lys3109Ter NC_000002.12:178767904:T:A p.(Lys3109Ter) NC_000002.12:178767904:T:A p.(Lys3109Ter) NC_000002.12:178767904:T:A Identity +NM_001079866.2:c.429_432dup NP_001073335.1:p.Lys145fs NC_000002.12:218661511:GACCGA:GACCGACCGA p.(Lys145ProfsTer32) NC_000002.12:218661511:GACCGA:GACCGACCGA p.(Lys145ProfsTer32) ERR:SPDI Analogous +NM_001190233.2:c.123A>G NP_001177162.1:p.Ile41Met NC_000003.12:180986953:T:C p.(Ile41Met) NC_000003.12:180986953:T:C p.(Ile41Met) NC_000003.12:180986953:T:C Identity +NM_145059.3:c.1705A>G NP_659496.2:p.Ser569Gly NC_000016.10:70473280:A:G p.(Ser569Gly) NC_000016.10:70473280:A:G p.(Ser569Gly) NC_000016.10:70473280:A:G Identity +NM_000066.4:c.1618A>T NP_000057.3:p.Lys540Ter NC_000001.11:56931812:T:A p.(Lys540Ter) NC_000001.11:56931812:T:A p.(Lys540Ter) NC_000001.11:56931812:T:A Identity +NM_017649.5:c.1601del NP_060119.3:p.Met534fs NC_000010.11:102920080:T: p.(Met534SerfsTer18) NC_000010.11:102920080:T: p.(Met534SerfsTer18) NC_000010.11:102920080:T: Analogous +NM_001353229.2:c.1449del NP_001340158.1:p.Phe483fs NC_000017.11:17215221:AAA:AA p.(Phe483LeufsTer3) NC_000017.11:17215221:AAA:AA p.(Phe483LeufsTer3) NC_000017.11:17215221:A: Analogous +NM_001347828.2:c.906_907delinsTT NP_001334757.1:p.Pro303Ser NC_000004.12:54267359:CC:TT p.(Pro303Ser) NC_000004.12:54267359:CC:TT p.(Pro303Ser) NC_000004.12:54267359:CC:TT Identity +NM_001257281.2:c.1392_1394del NP_001244210.1:p.Ser465del NC_000002.12:232249312:CTC: p.(Ser465del) NC_000002.12:232249312:CTC: p.(Ser465del) NC_000002.12:232249312:CTC: Identity +NM_001077525.3:c.279G>T NP_001070993.1:p.Glu93Asp NC_000003.12:9653739:G:T p.(Glu93Asp) NC_000003.12:9653739:G:T p.(Glu93Asp) NC_000003.12:9653739:G:T Identity +NM_206933.4:c.11770G>T NP_996816.3:p.Glu3924Ter NC_000001.11:215728325:C:A p.(Glu3924Ter) NC_000001.11:215728325:C:A p.(Glu3924Ter) NC_000001.11:215728325:C:A Identity +NM_001282933.2:c.646G>A NP_001269862.1:p.Gly216Ser NC_000020.11:33753327:G:A p.(Gly216Ser) NC_000020.11:33753327:G:A p.(Gly216Ser) NC_000020.11:33753327:G:A Identity +NM_000487.6:c.955_956insGCCTTGAT NP_000478.3:p.Phe319fs NC_000022.11:50626177:A:ATCAAGGCA p.(Phe319CysfsTer13) NC_000022.11:50626176:A:ATCAAGGC p.(Phe319CysfsTer13) NC_000022.11:50626177:AA:ATCAAGGC Analogous +NM_001256850.1:c.72682G>T NP_001243779.1:p.Gly24228Ter NC_000002.12:178568526:C:A p.(Gly24228Ter) NC_000002.12:178568526:C:A p.(Gly24228Ter) NC_000002.12:178568526:C:A Identity +NM_001256850.1:c.95671C>T NP_001243779.1:p.Gln31891Ter NC_000002.12:178536152:G:A p.(Gln31891Ter) NC_000002.12:178536152:G:A p.(Gln31891Ter) NC_000002.12:178536152:G:A Identity +NM_001008844.3:c.6166G>T NP_001008844.1:p.Ala2056Ser NC_000006.12:7585224:G:T p.(Ala2056Ser) NC_000006.12:7585224:G:T p.(Ala2056Ser) NC_000006.12:7585224:G:T Identity +NM_001114331.3:c.309G>A NP_001107803.1:p.Trp103Ter NC_000016.10:1460918:C:T p.(Trp103Ter) NC_000016.10:1460918:C:T p.(Trp103Ter) NC_000016.10:1460918:C:T Identity +NM_001354798.2:c.238A>G NP_001341727.1:p.Thr80Ala NC_000003.12:39390468:A:G p.(Thr80Ala) NC_000003.12:39390468:A:G p.(Thr80Ala) NC_000003.12:39390468:A:G Identity +NM_001008537.3:c.3056del NP_001008537.1:p.Asp1019fs NC_000023.11:74741500:T: p.(Asp1019ValfsTer17) NC_000023.11:74741500:T: p.(Asp1019ValfsTer17) NC_000023.11:74741500:T: Analogous +NM_001281428.2:c.-1_4del NP_001268357.1:p.Met1fs NC_000009.12:34459001:TGAGATGA:TGA p.(Met1SerfsTer9) NC_000009.12:34459001:TGAGATGA:TGA p.Met1? NC_000009.12:34459004:GATGA: Analogous +NM_001256850.1:c.96206G>A NP_001243779.1:p.Trp32069Ter NC_000002.12:178535485:C:T p.(Trp32069Ter) NC_000002.12:178535485:C:T p.(Trp32069Ter) NC_000002.12:178535485:C:T Identity +NM_001174116.3:c.6190G>A NP_001167587.1:p.Val2064Ile NC_000015.10:51480915:C:T p.(Val2064Ile) NC_000015.10:51480915:C:T p.(Val2064Ile) NC_000015.10:51480915:C:T Identity +NM_001144964.1:c.1158A>G NP_001138436.1:p.Ile386Met NC_000018.10:58343048:A:G p.(Ile386Met) NC_000018.10:58343048:A:G p.(Ile386Met) NC_000018.10:58343048:A:G Identity +NM_001164281.3:c.724C>T NP_001157753.1:p.Gln242Ter NC_000006.12:111591362:G:A p.(Gln242Ter) NC_000006.12:111591362:G:A p.(Gln242Ter) NC_000006.12:111591362:G:A Identity +NM_001972.4:c.242G>A NP_001963.1:p.Arg81Gln NC_000019.10:853278:G:A p.(Arg81Gln) NC_000019.10:853278:G:A p.(Arg81Gln) NC_000019.10:853278:G:A Identity +NM_001167962.2:c.403G>A NP_001161434.1:p.Gly135Ser NC_000007.14:103413001:C:T p.(Gly135Ser) NC_000007.14:103413001:C:T p.(Gly135Ser) NC_000007.14:103413001:C:T Identity +NM_001127198.5:c.1354del NP_001120670.1:p.Val452fs NC_000017.11:78121584:C: p.(Val452SerfsTer8) NC_000017.11:78121584:C: p.(Val452SerfsTer8) NC_000017.11:78121584:C: Analogous +NM_001164507.2:c.12275T>G NP_001157979.2:p.Met4092Arg NC_000002.12:151609863:A:C p.(Met4092Arg) NC_000002.12:151609863:A:C p.(Met4092Arg) NC_000002.12:151609863:A:C Identity +NM_001278055.2:c.6579_6583del NP_001264984.1:p.Leu2194fs NC_000013.11:23336851:TTAACTTA:TTA p.(Leu2194ThrfsTer3) NC_000013.11:23336851:TTAACTTA:TTA p.(Leu2194ThrfsTer3) NC_000013.11:23336851:TTAAC: Analogous +NM_000268.4:c.1521del NP_000259.1:p.Phe507fs NC_000022.11:29678269:C: p.(Phe507LeufsTer8) NC_000022.11:29678269:C: p.(Phe507LeufsTer8) NC_000022.11:29678269:C: Analogous +NM_001184985.2:c.2194A>G NP_001171914.1:p.Ile732Val NC_000012.12:867919:A:G p.(Ile732Val) NC_000012.12:867919:A:G p.(Ile732Val) NC_000012.12:867919:A:G Identity +NM_001385110.1:c.475A>G NP_001372039.1:p.Ile159Val NC_000012.12:56355335:T:C p.(Ile159Val) NC_000012.12:56355335:T:C p.(Ile159Val) NC_000012.12:56355335:T:C Identity +NM_001271052.1:c.96G>T NP_001257981.1:p.Trp32Cys NC_000019.10:14774040:C:A p.(Trp32Cys) NC_000019.10:14774040:C:A p.(Trp32Cys) NC_000019.10:14774040:C:A Identity +NM_001305163.2:c.530A>G NP_001292092.1:p.Lys177Arg NC_000016.10:57212984:A:G p.(Lys177Arg) NC_000016.10:57212984:A:G p.(Lys177Arg) NC_000016.10:57212984:A:G Identity +NM_014727.3:c.1366T>G NP_055542.1:p.Ser456Ala NC_000019.10:35720712:T:G p.(Ser456Ala) NC_000019.10:35720712:T:G p.(Ser456Ala) NC_000019.10:35720712:T:G Identity +NM_001282660.2:c.2187G>C NP_001269589.1:p.Glu729Asp NC_000022.11:40417370:C:G p.(Glu729Asp) NC_000022.11:40417370:C:G p.(Glu729Asp) NC_000022.11:40417370:C:G Identity +NM_001145138.2:c.669_670del NP_001138610.1:p.Tyr224fs NC_000011.10:65658484:ACAC:AC p.(Tyr224PhefsTer16) NC_000011.10:65658484:ACAC:AC p.(Tyr224PhefsTer16) NC_000011.10:65658484:AC: Analogous +NM_002292.4:c.1945C>T NP_002283.3:p.Pro649Ser NC_000003.12:49128530:G:A p.(Pro649Ser) NC_000003.12:49128530:G:A p.(Pro649Ser) NC_000003.12:49128530:G:A Identity +NM_001308133.2:c.1430_1437del NP_001295062.1:p.Ile477fs NC_000014.9:45159204:TATTAGAGTA:TA p.(Ile477AsnfsTer29) NC_000014.9:45159204:TATTAGAGTA:TA p.(Ile477AsnfsTer29) NC_000014.9:45159206:TTAGAGTA: Analogous +NM_001100913.3:c.1477G>A NP_001094383.2:p.Glu493Lys NC_000014.9:105382539:G:A p.(Glu493Lys) NC_000014.9:105382539:G:A p.(Glu493Lys) NC_000014.9:105382539:G:A Identity +NM_000832.7:c.2T>C NP_000823.4:p.Met1Thr NC_000009.12:137139487:T:C p.(Met1Thr) NC_000009.12:137139487:T:C p.Met1? NC_000009.12:137139487:T:C Identity +NM_000094.4:c.8574T>G NP_000085.1:p.Tyr2858Ter NC_000003.12:48565154:A:C p.(Tyr2858Ter) NC_000003.12:48565154:A:C p.(Tyr2858Ter) NC_000003.12:48565154:A:C Identity +NM_199355.4:c.461C>G NP_955387.1:p.Ser154Cys NC_000016.10:77431328:G:C p.(Ser154Cys) NC_000016.10:77431328:G:C p.(Ser154Cys) NC_000016.10:77431328:G:C Identity +NM_001142298.2:c.455T>G NP_001135770.1:p.Phe152Cys NC_000005.10:179825178:T:G p.(Phe152Cys) NC_000005.10:179825178:T:G p.(Phe152Cys) NC_000005.10:179825178:T:G Identity +NM_001318491.2:c.1033C>A NP_001305420.1:p.Leu345Ile NC_000013.11:20605082:C:A p.(Leu345Ile) NC_000013.11:20605082:C:A p.(Leu345Ile) NC_000013.11:20605082:C:A Identity +NM_001354705.2:c.1075C>T NP_001341634.1:p.Gln359Ter NC_000012.12:57571368:C:T p.(Gln359Ter) NC_000012.12:57571368:C:T p.(Gln359Ter) NC_000012.12:57571368:C:T Identity +NM_032119.4:c.454C>T NP_115495.3:p.Leu152Phe NC_000005.10:90622596:C:T p.(Leu152Phe) NC_000005.10:90622596:C:T p.(Leu152Phe) NC_000005.10:90622596:C:T Identity +NM_001015051.4:c.536_542del NP_001015051.3:p.Val179fs NC_000006.12:45431970:CAAGTAGCAAG:CAAG p.(Val179GlyfsTer5) NC_000006.12:45431970:CAAGTAGCAAG:CAAG p.(Val179GlyfsTer5) NC_000006.12:45431974:TAGCAAG: Analogous +NM_001165963.4:c.3982T>G NP_001159435.1:p.Ser1328Ala NC_000002.12:166009738:A:C p.(Ser1328Ala) NC_000002.12:166009738:A:C p.(Ser1328Ala) NC_000002.12:166009738:A:C Identity +NM_001308258.2:c.1608_1609AG[3] NP_001295187.1:p.Met538fs NC_000003.12:149160275:AGAG:AGAGAG p.(Met538ArgfsTer2) NC_000003.12:149160275:AG:AGAGAG ERR:Parse ERR:Parse Analogous +NM_000138.5:c.7463A>G NP_000129.3:p.Glu2488Gly NC_000015.10:48422058:T:C p.(Glu2488Gly) NC_000015.10:48422058:T:C p.(Glu2488Gly) NC_000015.10:48422058:T:C Identity +NM_001136139.4:c.310G>T NP_001129611.1:p.Glu104Ter NC_000019.10:1627414:C:A p.(Glu104Ter) NC_000019.10:1627414:C:A p.(Glu104Ter) NC_000019.10:1627414:C:A Identity +NM_001174116.3:c.710del NP_001167587.1:p.Gly237fs NC_000015.10:51547265:CC:C p.(Gly237ValfsTer21) NC_000015.10:51547265:CC:C p.(Gly237ValfsTer21) NC_000015.10:51547265:C: Analogous +NM_001128425.2:c.196del NP_001121897.1:p.Ala66fs NC_000001.11:45333564:C: p.(Ala66GlnfsTer25) NC_000001.11:45333564:C: p.(Ala66GlnfsTer25) NC_000001.11:45333564:C: Analogous +NM_000068.4:c.2442C>A NP_000059.3:p.His814Gln NC_000019.10:13299202:G:T p.(His814Gln) NC_000019.10:13299202:G:T p.(His814Gln) NC_000019.10:13299202:G:T Identity +NM_001197104.2:c.6401C>T NP_001184033.1:p.Ser2134Phe NC_000011.10:118501752:C:T p.(Ser2134Phe) NC_000011.10:118501752:C:T p.(Ser2134Phe) NC_000011.10:118501752:C:T Identity +NM_001178130.3:c.1363del NP_001171601.1:p.Ser455fs NC_000004.12:109963222:A: p.(Ser455AlafsTer63) NC_000004.12:109963222:A: p.(Ser455AlafsTer63) NC_000004.12:109963222:A: Analogous +NM_000548.5:c.3305_3306del NP_000539.2:p.Val1102fs NC_000016.10:2079574:TGTG:TG p.(Val1102GlufsTer65) NC_000016.10:2079574:TGTG:TG p.(Val1102GlufsTer65) NC_000016.10:2079576:TG: Analogous +NM_012338.4:c.396del NP_036470.1:p.Ala133fs NC_000007.14:120810534:TTT:TT p.(Ala133ProfsTer3) NC_000007.14:120810534:TTT:TT p.(Ala133ProfsTer3) NC_000007.14:120810534:T: Analogous +NM_014510.3:c.7056G>T NP_055325.2:p.Met2352Ile NC_000007.14:82953896:C:A p.(Met2352Ile) NC_000007.14:82953896:C:A p.(Met2352Ile) NC_000007.14:82953896:C:A Identity +NM_000077.5:c.274G>C NP_000068.1:p.Asp92His NC_000009.12:21971084:C:G p.(Asp92His) NC_000009.12:21971084:C:G p.(Asp92His) NC_000009.12:21971084:C:G Identity +NM_001018037.2:c.4555A>G NP_001018047.1:p.Ile1519Val NC_000009.12:77316214:A:G p.(Ile1519Val) NC_000009.12:77316214:A:G p.(Ile1519Val) NC_000009.12:77316214:A:G Identity +NM_001171933.1:c.2841C>A NP_001165404.1:p.Tyr947Ter NC_000010.11:71812817:C:A p.(Tyr947Ter) NC_000010.11:71812817:C:A p.(Tyr947Ter) NC_000010.11:71812817:C:A Identity +NM_001407296.1:c.719dup NP_001394225.1:p.His241Alafs NC_000016.10:23635766:T:TT p.(His241AlafsTer3) NC_000016.10:23635766:T:TT p.(His241AlafsTer3) ERR:SPDI Analogous +NM_001365023.1:c.496dup NP_001351952.1:p.Tyr166fs NC_000009.12:74642639:TT:TTT p.(Tyr166LeufsTer12) NC_000009.12:74642639:TT:TTT p.(Tyr166LeufsTer12) ERR:SPDI Analogous +NM_001256850.1:c.61714C>T NP_001243779.1:p.Gln20572Ter NC_000002.12:178581630:G:A p.(Gln20572Ter) NC_000002.12:178581630:G:A p.(Gln20572Ter) NC_000002.12:178581630:G:A Identity +NM_001200001.2:c.901G>T NP_001186930.1:p.Glu301Ter NC_000001.11:119969717:C:A p.(Glu301Ter) NC_000001.11:119969717:C:A p.(Glu301Ter) NC_000001.11:119969717:C:A Identity +NM_001193464.2:c.318dup NP_001180393.1:p.Arg107fs NC_000002.12:43789718:A:AA p.(Arg107ThrfsTer15) NC_000002.12:43789718:A:AA p.(Arg107ThrfsTer15) ERR:SPDI Analogous +NM_001278055.2:c.6425_6426del NP_001264984.1:p.Thr2142fs NC_000013.11:23337008:TGT:T p.(Thr2142SerfsTer2) NC_000013.11:23337008:TGT:T p.(Thr2142SerfsTer2) NC_000013.11:23337008:TG: Analogous +NM_000020.3:c.1010T>G NP_000011.2:p.Leu337Arg NC_000012.12:51915461:T:G p.(Leu337Arg) NC_000012.12:51915461:T:G p.(Leu337Arg) NC_000012.12:51915461:T:G Identity +NM_020232.5:c.407G>A NP_064617.2:p.Ser136Asn NC_000018.10:12718634:G:A p.(Ser136Asn) NC_000018.10:12718634:G:A p.(Ser136Asn) NC_000018.10:12718634:G:A Identity +NM_001122769.3:c.1616C>G NP_001116241.1:p.Ser539Ter NC_000006.12:79487481:G:C p.(Ser539Ter) NC_000006.12:79487481:G:C p.(Ser539Ter) NC_000006.12:79487481:G:C Identity +NM_001256959.2:c.631C>T NP_001243888.2:p.Arg211Ter NC_000001.11:11826203:C:T p.(Arg211Ter) NC_000001.11:11826203:C:T p.(Arg211Ter) NC_000001.11:11826203:C:T Identity +NM_000223.4:c.540T>G NP_000214.1:p.Tyr180Ter NC_000017.11:40866646:A:C p.(Tyr180Ter) NC_000017.11:40866646:A:C p.(Tyr180Ter) NC_000017.11:40866646:A:C Identity +NM_001031714.4:c.369del NP_001026884.3:p.Tyr124fs NC_000014.9:104701733:C: p.(Tyr124ThrfsTer14) NC_000014.9:104701733:C: p.(Tyr124ThrfsTer14) NC_000014.9:104701733:C: Analogous +NM_031935.3:c.4961T>C NP_114141.2:p.Val1654Ala NC_000001.11:186016008:T:C p.(Val1654Ala) NC_000001.11:186016008:T:C p.(Val1654Ala) NC_000001.11:186016008:T:C Identity +NM_001385907.1:c.1113A>T NP_001372836.1:p.Glu371Asp NC_000009.12:32488037:T:A p.(Glu371Asp) NC_000009.12:32488037:T:A p.(Glu371Asp) NC_000009.12:32488037:T:A Identity +NM_006063.3:c.1632_1633del NP_006054.2:p.Tyr545fs NC_000002.12:169520928:TGT:T p.(Tyr545CysfsTer13) NC_000002.12:169520928:TGT:T p.(Tyr545CysfsTer13) NC_000002.12:169520929:GT: Analogous +NM_206933.4:c.11488_11492del NP_996816.3:p.Leu3830fs NC_000001.11:215743232:AGAAG: p.(Leu3830GlyfsTer10) NC_000001.11:215743232:AGAAG: p.(Leu3830GlyfsTer10) NC_000001.11:215743232:AGAAG: Analogous +NM_000168.6:c.3109A>G NP_000159.3:p.Thr1037Ala NC_000007.14:41965963:T:C p.(Thr1037Ala) NC_000007.14:41965963:T:C p.(Thr1037Ala) NC_000007.14:41965963:T:C Identity +NM_001313915.2:c.1371del NP_001300844.1:p.Phe457fs NC_000002.12:88579579:AAAAA:AAAA p.(Phe457LeufsTer7) NC_000002.12:88579579:AAAAA:AAAA p.(Phe457LeufsTer7) NC_000002.12:88579579:A: Analogous +NM_014244.5:c.1612_1613del NP_055059.2:p.Met538fs NC_000005.10:179152157:ATA:A p.(Met538ValfsTer9) NC_000005.10:179152157:ATA:A p.(Met538ValfsTer9) NC_000005.10:179152157:AT: Analogous +NM_001256850.1:c.73355_73356del NP_001243779.1:p.Gly24452fs NC_000002.12:178567852:TC: p.(Gly24452AspfsTer8) NC_000002.12:178567852:TC: p.(Gly24452AspfsTer8) NC_000002.12:178567852:TC: Analogous +NM_000335.5:c.1305_1312del NP_000326.2:p.Gln435fs NC_000003.12:38605976:TGGCCTCCTGG:TGG p.(Gln435HisfsTer22) NC_000003.12:38605976:TGGCCTCCTGG:TGG p.(Gln435HisfsTer22) NC_000003.12:38605976:TGGCCTCC: Analogous +NM_003482.4:c.11455_11467del NP_003473.3:p.Gly3819fs NC_000012.12:49033237:GGCCCTGGGGGCC: p.(Gly3819LeufsTer7) NC_000012.12:49033237:GGCCCTGGGGGCC: p.(Gly3819LeufsTer7) NC_000012.12:49033237:GGCCCTGGGGGCC: Analogous +NM_001244580.2:c.4415G>A NP_001231509.1:p.Arg1472His NC_000007.14:98942958:G:A p.(Arg1472His) NC_000007.14:98942958:G:A p.(Arg1472His) NC_000007.14:98942958:G:A Identity +NM_001368263.1:c.146_147del NP_001355192.1:p.Lys49fs NC_000003.12:45394596:AAAA:AA p.(Lys49ArgfsTer11) NC_000003.12:45394596:AAAA:AA p.(Lys49ArgfsTer11) NC_000003.12:45394598:AA: Analogous +NM_001127208.3:c.3765C>A NP_001120680.1:p.Tyr1255Ter NC_000004.12:105243739:C:A p.(Tyr1255Ter) NC_000004.12:105243739:C:A p.(Tyr1255Ter) NC_000004.12:105243739:C:A Identity +NM_001317184.2:c.2160A>C NP_001304113.1:p.Glu720Asp NC_000016.10:68829700:A:C p.(Glu720Asp) NC_000016.10:68829700:A:C p.(Glu720Asp) NC_000016.10:68829700:A:C Identity +NM_001256850.1:c.53337G>A NP_001243779.1:p.Trp17779Ter NC_000002.12:178594132:C:T p.(Trp17779Ter) NC_000002.12:178594132:C:T p.(Trp17779Ter) NC_000002.12:178594132:C:T Identity +NM_000051.4:c.5347_5348dup NP_000042.3:p.Asn1784fs NC_000011.10:108302878:AGA:AGAGA p.(Asn1784LysfsTer10) NC_000011.10:108302878:AGA:AGAGA p.(Asn1784LysfsTer10) ERR:SPDI Analogous +NM_001271.4:c.5443_5447del NP_001262.3:p.Gln1815fs NC_000015.10:93024656:AGAACAGAA:AGAA p.(Gln1815LysfsTer6) NC_000015.10:93024656:AGAACAGAA:AGAA p.(Gln1815LysfsTer6) NC_000015.10:93024660:CAGAA: Analogous +NM_017780.4:c.2948G>A NP_060250.2:p.Trp983Ter NC_000008.11:60822135:G:A p.(Trp983Ter) NC_000008.11:60822135:G:A p.(Trp983Ter) NC_000008.11:60822135:G:A Identity +NM_001369906.1:c.284_287dup NP_001356835.1:p.His97fs NC_000022.11:23575004:GTCA:GTCAGTCA p.(His97AspfsTer30) NC_000022.11:23575004:GTCA:GTCAGTCA p.(His97AspfsTer30) ERR:SPDI Analogous +NM_001318491.2:c.602A>G NP_001305420.1:p.Tyr201Cys NC_000013.11:20598714:A:G p.(Tyr201Cys) NC_000013.11:20598714:A:G p.(Tyr201Cys) NC_000013.11:20598714:A:G Identity +NM_001034852.3:c.445del NP_001030024.1:p.Ser149fs NC_000014.9:69975780:T: p.(Ser149LeufsTer19) NC_000014.9:69975780:T: p.(Ser149LeufsTer19) NC_000014.9:69975780:T: Analogous +NM_001122681.2:c.1258G>T NP_001116153.1:p.Gly420Trp NC_000004.12:2831586:G:T p.(Gly420Trp) NC_000004.12:2831586:G:T p.(Gly420Trp) NC_000004.12:2831586:G:T Identity +NM_001040142.2:c.1976dup NP_001035232.1:p.Ser661fs NC_000002.12:165323455:GGGGG:GGGGGG p.(Ser661PhefsTer17) NC_000002.12:165323455:GGGGG:GGGGGG p.(Ser661PhefsTer17) ERR:SPDI Analogous +NM_000138.5:c.1761T>G NP_000129.3:p.Cys587Trp NC_000015.10:48508657:A:C p.(Cys587Trp) NC_000015.10:48508657:A:C p.(Cys587Trp) NC_000015.10:48508657:A:C Identity +NM_002335.4:c.1064del NP_002326.2:p.Ile355fs NC_000011.10:68386363:T: p.(Ile355ThrfsTer29) NC_000011.10:68386363:T: p.(Ile355ThrfsTer29) NC_000011.10:68386363:T: Analogous +NM_001271937.2:c.225del NP_001258866.1:p.Lys75fs NC_000006.12:151427576:C: p.(Lys75AsnfsTer3) NC_000006.12:151427576:C: p.(Lys75AsnfsTer3) NC_000006.12:151427576:C: Analogous +NM_032816.5:c.634C>T NP_116205.3:p.Pro212Ser NC_000019.10:32937663:G:A p.(Pro212Ser) NC_000019.10:32937663:G:A p.(Pro212Ser) NC_000019.10:32937663:G:A Identity +NM_001130066.2:c.3202C>T NP_001123538.1:p.Gln1068Ter NC_000006.12:33443795:C:T p.(Gln1068Ter) NC_000006.12:33443795:C:T p.(Gln1068Ter) NC_000006.12:33443795:C:T Identity +NM_001033046.4:c.10C>T NP_001028218.1:p.Gln4Ter NC_000017.11:82449244:G:A p.(Gln4Ter) NC_000017.11:82449244:G:A p.(Gln4Ter) NC_000017.11:82449244:G:A Identity +NM_000252.3:c.1116del NP_000243.1:p.Val373fs NC_000023.11:150657881:TT:T p.(Val373CysfsTer13) NC_000023.11:150657881:TT:T p.(Val373CysfsTer13) NC_000023.11:150657882:T: Analogous +NM_000088.4:c.1023_1024dup NP_000079.2:p.Pro342fs NC_000017.11:50195954:GA:GAGA p.(Pro342LeufsTer200) NC_000017.11:50195954:GA:GAGA p.(Pro342LeufsTer200) ERR:SPDI Analogous +NM_001285829.2:c.518ACA[1] NP_001272758.1:p.Asn174del NC_000019.10:33301534:TGTTGTTG:TGTTG p.(Asn174del) NC_000019.10:33301539:T:TGT ERR:Parse ERR:Parse Identity +NM_001127505.3:c.949C>G NP_001120977.1:p.Arg317Gly NC_000008.11:18059414:G:C p.(Arg317Gly) NC_000008.11:18059414:G:C p.(Arg317Gly) NC_000008.11:18059414:G:C Identity +NM_000112.4:c.104C>G NP_000103.2:p.Ser35Ter NC_000005.10:149977755:C:G p.(Ser35Ter) NC_000005.10:149977755:C:G p.(Ser35Ter) NC_000005.10:149977755:C:G Identity +NM_001256850.1:c.90653_90654del NP_001243779.1:p.Lys30218fs NC_000002.12:178545532:TTT:T p.(Lys30218ArgfsTer6) NC_000002.12:178545532:TTT:T p.(Lys30218ArgfsTer6) NC_000002.12:178545532:TT: Analogous +NM_004608.4:c.769dup NP_004599.2:p.Ile257fs NC_000016.10:30088614:T:TT p.(Ile257AsnfsTer23) NC_000016.10:30088614:T:TT p.(Ile257AsnfsTer23) ERR:SPDI Analogous +NM_004304.5:c.105_124del NP_004295.2:p.Pro36fs NC_000002.12:29920535:CCCGGGGCTGCAGCGGCGGCCCCG:CCCG p.(Pro36AlafsTer15) NC_000002.12:29920535:CCCGGGGCTGCAGCGGCGGCCCCG:CCCG p.(Pro36AlafsTer15) NC_000002.12:29920535:CCCGGGGCTGCAGCGGCGGC: Analogous +NM_001406715.1:c.388dup NP_001393644.1:p.Val133Glyfs NC_000009.12:127826640:GGGGG:GGGGGG p.(Val133GlyfsTer16) NC_000009.12:127826640:GGGGG:GGGGGG p.(Val133GlyfsTer16) ERR:SPDI Analogous +NM_000548.5:c.4294G>A NP_000539.2:p.Ala1432Thr NC_000016.10:2084515:G:A p.(Ala1432Thr) NC_000016.10:2084515:G:A p.(Ala1432Thr) NC_000016.10:2084515:G:A Identity +NM_000018.4:c.1520A>T NP_000009.1:p.Lys507Ile NC_000017.11:7224230:A:T p.(Lys507Ile) NC_000017.11:7224230:A:T p.(Lys507Ile) NC_000017.11:7224230:A:T Identity +NM_001199922.2:c.561del NP_001186851.1:p.Ile188fs NC_000011.10:124649674:GGG:GG p.(Ile188LeufsTer10) NC_000011.10:124649674:GGG:GG p.(Ile188LeufsTer10) NC_000011.10:124649674:G: Analogous +NM_001348250.2:c.302A>C NP_001335179.1:p.Glu101Ala NC_000003.12:11017905:A:C p.(Glu101Ala) NC_000003.12:11017905:A:C p.(Glu101Ala) NC_000003.12:11017905:A:C Identity +NM_020745.4:c.547G>C NP_065796.2:p.Asp183His NC_000006.12:44311423:C:G p.(Asp183His) NC_000006.12:44311423:C:G p.(Asp183His) NC_000006.12:44311423:C:G Identity +NM_000368.5:c.809C>G NP_000359.1:p.Ser270Ter NC_000009.12:132912385:G:C p.(Ser270Ter) NC_000009.12:132912385:G:C p.(Ser270Ter) NC_000009.12:132912385:G:C Identity +NM_001127396.3:c.71_72del NP_001120868.1:p.Lys24fs NC_000019.10:7638758:AG: p.(Lys24ArgfsTer29) NC_000019.10:7638758:AG: p.(Lys24ArgfsTer29) NC_000019.10:7638758:AG: Analogous +NM_017780.4:c.4737G>C NP_060250.2:p.Leu1579Phe NC_000008.11:60841938:G:C p.(Leu1579Phe) NC_000008.11:60841938:G:C p.(Leu1579Phe) NC_000008.11:60841938:G:C Identity +NM_017671.5:c.815T>C NP_060141.3:p.Phe272Ser NC_000020.11:6107565:A:G p.(Phe272Ser) NC_000020.11:6107565:A:G p.(Phe272Ser) NC_000020.11:6107565:A:G Identity +NM_021076.4:c.416G>C NP_066554.2:p.Arg139Pro NC_000022.11:29480677:G:C p.(Arg139Pro) NC_000022.11:29480677:G:C p.(Arg139Pro) NC_000022.11:29480677:G:C Identity +NM_001378120.1:c.971C>G NP_001365049.1:p.Pro324Arg NC_000002.12:148468913:C:G p.(Pro324Arg) NC_000002.12:148468913:C:G p.(Pro324Arg) NC_000002.12:148468913:C:G Identity +NM_005045.4:c.5455del NP_005036.2:p.Glu1819fs NC_000007.14:103561605:C: p.(Glu1819LysfsTer10) NC_000007.14:103561605:C: p.(Glu1819LysfsTer10) NC_000007.14:103561605:C: Analogous +NM_002180.3:c.317_318insA NP_002171.2:p.Thr107fs NC_000011.10:68908205::A p.(Thr107AspfsTer13) NC_000011.10:68908204:T:A p.(Thr107AspfsTer13) NC_000011.10:68908205:TG:A Analogous +NM_001195573.1:c.3747A>T NP_001182502.1:p.Lys1249Asn NC_000014.9:95103648:T:A p.(Lys1249Asn) NC_000014.9:95103648:T:A p.(Lys1249Asn) NC_000014.9:95103648:T:A Identity +NM_000474.4:c.141_145del NP_000465.1:p.Gly48fs NC_000007.14:19117176:CGCCGC:C p.(Gly48ArgfsTer188) NC_000007.14:19117176:CGCCGC:C p.(Gly48ArgfsTer188) NC_000007.14:19117176:CGCCG: Analogous +NM_001407296.1:c.1152T>A NP_001394225.1:p.Phe384Leu NC_000016.10:23635333:A:T p.(Phe384Leu) NC_000016.10:23635333:A:T p.(Phe384Leu) NC_000016.10:23635333:A:T Identity +NM_018941.4:c.353A>C NP_061764.2:p.Asn118Thr NC_000008.11:1771406:A:C p.(Asn118Thr) NC_000008.11:1771406:A:C p.(Asn118Thr) NC_000008.11:1771406:A:C Identity +NM_000142.5:c.748_749delinsAA NP_000133.1:p.Pro250Lys NC_000004.12:1801842:CC:AA p.(Pro250Lys) NC_000004.12:1801842:CC:AA p.(Pro250Lys) NC_000004.12:1801842:CC:AA Identity +NM_001128148.3:c.1675G>A NP_001121620.1:p.Glu559Lys NC_000003.12:196058285:C:T p.(Glu559Lys) NC_000003.12:196058285:C:T p.(Glu559Lys) NC_000003.12:196058285:C:T Identity +NM_006231.4:c.639C>G NP_006222.2:p.Asp213Glu NC_000012.12:132677658:G:C p.(Asp213Glu) NC_000012.12:132677658:G:C p.(Asp213Glu) NC_000012.12:132677658:G:C Identity +NM_001256850.1:c.77653del NP_001243779.1:p.Asp25885fs NC_000002.12:178563555:CC:C p.(Asp25885IlefsTer6) NC_000002.12:178563555:CC:C p.(Asp25885IlefsTer6) NC_000002.12:178563555:C: Analogous +NM_001330209.2:c.1664A>G NP_001317138.1:p.Lys555Arg NC_000023.11:13760243:A:G p.(Lys555Arg) NC_000023.11:13760243:A:G p.(Lys555Arg) NC_000023.11:13760243:A:G Identity +NM_001410836.1:c.755T>G NP_001397765.1:p.Leu252Arg NC_000022.11:21923197:A:C p.(Leu252Arg) NC_000022.11:21923197:A:C p.(Leu252Arg) NC_000022.11:21923197:A:C Identity +NM_182493.3:c.884C>A NP_872299.2:p.Pro295His NC_000016.10:46737827:G:T p.(Pro295His) NC_000016.10:46737827:G:T p.(Pro295His) NC_000016.10:46737827:G:T Identity +NM_001408.3:c.4736A>T NP_001399.1:p.Asp1579Val NC_000001.11:109263168:A:T p.(Asp1579Val) NC_000001.11:109263168:A:T p.(Asp1579Val) NC_000001.11:109263168:A:T Identity +NM_003988.5:c.1061C>G NP_003979.2:p.Pro354Arg NC_000010.11:100824940:C:G p.(Pro354Arg) NC_000010.11:100824940:C:G p.(Pro354Arg) NC_000010.11:100824940:C:G Identity +NM_001244189.2:c.4579C>T NP_001231118.1:p.Gln1527Ter NC_000014.9:58512617:C:T p.(Gln1527Ter) NC_000014.9:58512617:C:T p.(Gln1527Ter) NC_000014.9:58512617:C:T Identity +NM_022041.4:c.531G>C NP_071324.1:p.Lys177Asn NC_000016.10:81354652:G:C p.(Lys177Asn) NC_000016.10:81354652:G:C p.(Lys177Asn) NC_000016.10:81354652:G:C Identity +NM_001407898.1:c.2963A>G NP_001394827.1:p.Asn988Ser NC_000017.11:43092354:T:C p.(Asn988Ser) NC_000017.11:43092354:T:C p.(Asn988Ser) NC_000017.11:43092354:T:C Identity +NM_001166133.2:c.664_666del NP_001159605.1:p.Ser222del NC_000004.12:78265084:TCT: p.(Ser222del) NC_000004.12:78265084:TCT: p.(Ser222del) NC_000004.12:78265084:TCT: Identity +NM_001199975.3:c.155A>T NP_001186904.1:p.Tyr52Phe NC_000008.11:96231780:T:A p.(Tyr52Phe) NC_000008.11:96231780:T:A p.(Tyr52Phe) NC_000008.11:96231780:T:A Identity +NM_001410739.1:c.244G>T NP_001397668.1:p.Ala82Ser NC_000002.12:27485069:C:A p.(Ala82Ser) NC_000002.12:27485069:C:A p.(Ala82Ser) NC_000002.12:27485069:C:A Identity +NM_000802.3:c.331C>T NP_000793.1:p.Pro111Ser NC_000011.10:72195432:C:T p.(Pro111Ser) NC_000011.10:72195432:C:T p.(Pro111Ser) NC_000011.10:72195432:C:T Identity +NM_000028.3:c.4460G>A NP_000019.2:p.Arg1487Gln NC_000001.11:99916709:G:A p.(Arg1487Gln) NC_000001.11:99916709:G:A p.(Arg1487Gln) NC_000001.11:99916709:G:A Identity +NM_017547.4:c.430G>A NP_060017.1:p.Val144Ile NC_000011.10:126273347:G:A p.(Val144Ile) NC_000011.10:126273347:G:A p.(Val144Ile) NC_000011.10:126273347:G:A Identity +NM_001145527.2:c.1069G>A NP_001138999.1:p.Glu357Lys NC_000009.12:137743988:G:A p.(Glu357Lys) NC_000009.12:137743988:G:A p.(Glu357Lys) NC_000009.12:137743988:G:A Identity +NM_005559.4:c.2161G>C NP_005550.2:p.Glu721Gln NC_000018.10:7032985:C:G p.(Glu721Gln) NC_000018.10:7032985:C:G p.(Glu721Gln) NC_000018.10:7032985:C:G Identity +NM_001286130.2:c.1312A>T NP_001273059.1:p.Lys438Ter NC_000016.10:57939471:T:A p.(Lys438Ter) NC_000016.10:57939471:T:A p.(Lys438Ter) NC_000016.10:57939471:T:A Identity +NM_001351273.1:c.3970C>T NP_001338202.1:p.Pro1324Ser NC_000019.10:1467273:C:T p.(Pro1324Ser) NC_000019.10:1467273:C:T p.(Pro1324Ser) NC_000019.10:1467273:C:T Identity +NM_032444.4:c.5110G>T NP_115820.2:p.Ala1704Ser NC_000016.10:3583139:C:A p.(Ala1704Ser) NC_000016.10:3583139:C:A p.(Ala1704Ser) NC_000016.10:3583139:C:A Identity +NM_001372.4:c.11351C>T NP_001363.2:p.Thr3784Met NC_000017.11:11894440:C:T p.(Thr3784Met) NC_000017.11:11894440:C:T p.(Thr3784Met) NC_000017.11:11894440:C:T Identity +NM_001260474.2:c.410G>T NP_001247403.1:p.Cys137Phe NC_000021.9:42863482:C:A p.(Cys137Phe) NC_000021.9:42863482:C:A p.(Cys137Phe) NC_000021.9:42863482:C:A Identity +NM_001318502.2:c.1498G>A NP_001305431.1:p.Val500Met NC_000009.12:136431871:C:T p.(Val500Met) NC_000009.12:136431871:C:T p.(Val500Met) NC_000009.12:136431871:C:T Identity +NM_001166496.2:c.1429G>C NP_001159968.1:p.Val477Leu NC_000001.11:112913964:C:G p.(Val477Leu) NC_000001.11:112913964:C:G p.(Val477Leu) NC_000001.11:112913964:C:G Identity +NM_001148.6:c.6083G>A NP_001139.3:p.Arg2028Gln NC_000004.12:113354700:G:A p.(Arg2028Gln) NC_000004.12:113354700:G:A p.(Arg2028Gln) NC_000004.12:113354700:G:A Identity +NM_000170.3:c.139G>A NP_000161.2:p.Ala47Thr NC_000009.12:6645360:C:T p.(Ala47Thr) NC_000009.12:6645360:C:T p.(Ala47Thr) NC_000009.12:6645360:C:T Identity +NM_001365212.1:c.1228G>T NP_001352141.1:p.Asp410Tyr NC_000001.11:173853384:G:T p.(Asp410Tyr) NC_000001.11:173853384:G:T p.(Asp410Tyr) NC_000001.11:173853384:G:T Identity +NM_001035512.3:c.186dup NP_001030589.1:p.Glu63Ter NC_000001.11:161356720:TTT:TTTT p.(Glu63Ter) NC_000001.11:161356720:TTT:TTTT p.(Glu63Ter) ERR:SPDI Identity +NM_001330437.2:c.604A>T NP_001317366.1:p.Met202Leu NC_000012.12:112454641:A:T p.(Met202Leu) NC_000012.12:112454641:A:T p.(Met202Leu) NC_000012.12:112454641:A:T Identity +NM_000335.5:c.3724_3726del NP_000326.2:p.Asp1242del NC_000003.12:38566519:GTCG:G p.(Asp1242del) NC_000003.12:38566519:GTCG:G p.(Asp1242del) NC_000003.12:38566519:GTC: Identity +NM_001308133.2:c.2345C>A NP_001295062.1:p.Thr782Asn NC_000014.9:45175176:C:A p.(Thr782Asn) NC_000014.9:45175176:C:A p.(Thr782Asn) NC_000014.9:45175176:C:A Identity +NM_003482.4:c.1033C>G NP_003473.3:p.Leu345Val NC_000012.12:49052993:G:C p.(Leu345Val) NC_000012.12:49052993:G:C p.(Leu345Val) NC_000012.12:49052993:G:C Identity +NM_001022.4:c.402C>T NP_001013.1:p.Ile134= NC_000019.10:41869743:C:T p.(Ile134=) NC_000019.10:41869743:C:T p.(Ile134=) NC_000019.10:41869743:C:T Identity +NM_005257.6:c.704A>T NP_005248.2:p.Tyr235Phe NC_000018.10:22171847:A:T p.(Tyr235Phe) NC_000018.10:22171847:A:T p.(Tyr235Phe) NC_000018.10:22171847:A:T Identity +NM_001393364.1:c.983T>C NP_001380293.1:p.Leu328Pro NC_000003.12:33134224:T:C p.(Leu328Pro) NC_000003.12:33134224:T:C p.(Leu328Pro) NC_000003.12:33134224:T:C Identity +NM_024928.5:c.360T>G NP_079204.2:p.Ile120Met NC_000010.11:103900158:A:C p.(Ile120Met) NC_000010.11:103900158:A:C p.(Ile120Met) NC_000010.11:103900158:A:C Identity +NM_000479.5:c.1657G>T NP_000470.3:p.Val553Leu NC_000019.10:2251930:G:T p.(Val553Leu) NC_000019.10:2251930:G:T p.(Val553Leu) NC_000019.10:2251930:G:T Identity +NM_000747.3:c.13G>A NP_000738.2:p.Ala5Thr NC_000017.11:7445139:G:A p.(Ala5Thr) NC_000017.11:7445139:G:A p.(Ala5Thr) NC_000017.11:7445139:G:A Identity +NM_024700.4:c.931G>A NP_078976.2:p.Val311Met NC_000001.11:37538007:C:T p.(Val311Met) NC_000001.11:37538007:C:T p.(Val311Met) NC_000001.11:37538007:C:T Identity +NM_001369.3:c.4255T>C NP_001360.1:p.Tyr1419His NC_000005.10:13865767:A:G p.(Tyr1419His) NC_000005.10:13865767:A:G p.(Tyr1419His) NC_000005.10:13865767:A:G Identity +NM_001351273.1:c.6166G>A NP_001338202.1:p.Ala2056Thr NC_000019.10:1469469:G:A p.(Ala2056Thr) NC_000019.10:1469469:G:A p.(Ala2056Thr) NC_000019.10:1469469:G:A Identity +NM_005751.5:c.719T>C NP_005742.4:p.Ile240Thr NC_000007.14:91994762:T:C p.(Ile240Thr) NC_000007.14:91994762:T:C p.(Ile240Thr) NC_000007.14:91994762:T:C Identity +NM_012120.3:c.660T>G NP_036252.1:p.Phe220Leu NC_000006.12:47574181:T:G p.(Phe220Leu) NC_000006.12:47574181:T:G p.(Phe220Leu) NC_000006.12:47574181:T:G Identity +NM_001145472.3:c.2388C>G NP_001138944.1:p.Ile796Met NC_000018.10:46505994:G:C p.(Ile796Met) NC_000018.10:46505994:G:C p.(Ile796Met) NC_000018.10:46505994:G:C Identity +NM_001136052.3:c.2333G>T NP_001129524.1:p.Arg778Leu NC_000019.10:49713558:G:T p.(Arg778Leu) NC_000019.10:49713558:G:T p.(Arg778Leu) NC_000019.10:49713558:G:T Identity +NM_003482.4:c.6274G>A NP_003473.3:p.Asp2092Asn NC_000012.12:49041495:C:T p.(Asp2092Asn) NC_000012.12:49041495:C:T p.(Asp2092Asn) NC_000012.12:49041495:C:T Identity +NM_001256182.2:c.1731dup NP_001243111.1:p.Asp578Ter NC_000016.10:89284810:A:AA p.(Asp578Ter) NC_000016.10:89284810:A:AA p.(Asp578Ter) ERR:SPDI Identity +NM_001171933.1:c.1693G>C NP_001165404.1:p.Ala565Pro NC_000010.11:71807619:G:C p.(Ala565Pro) NC_000010.11:71807619:G:C p.(Ala565Pro) NC_000010.11:71807619:G:C Identity +NM_001346813.1:c.5860C>T NP_001333742.1:p.Arg1954Trp NC_000006.12:157206880:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001034116.2:c.1180G>A NP_001029288.1:p.Val394Met NC_000002.12:27366769:C:T p.(Val394Met) NC_000002.12:27366769:C:T p.(Val394Met) NC_000002.12:27366769:C:T Identity +NM_001145527.2:c.622C>T NP_001138999.1:p.Pro208Ser NC_000009.12:137717161:C:T p.(Pro208Ser) NC_000009.12:137717161:C:T p.(Pro208Ser) NC_000009.12:137717161:C:T Identity +NM_001382394.1:c.2305C>G NP_001369323.1:p.Leu769Val NC_000002.12:39012189:G:C p.(Leu769Val) NC_000002.12:39012189:G:C p.(Leu769Val) NC_000002.12:39012189:G:C Identity +NM_001082537.3:c.1415C>A NP_001076006.1:p.Ala472Asp NC_000012.12:110645049:C:A p.(Ala472Asp) NC_000012.12:110645049:C:A p.(Ala472Asp) NC_000012.12:110645049:C:A Identity +NM_001329941.2:c.475C>A NP_001316870.1:p.Arg159Ser NC_000011.10:74493228:G:T p.(Arg159Ser) NC_000011.10:74493228:G:T p.(Arg159Ser) NC_000011.10:74493228:G:T Identity +NM_001308176.2:c.296A>G NP_001295105.1:p.Glu99Gly NC_000018.10:28013692:T:C p.(Glu99Gly) NC_000018.10:28013692:T:C p.(Glu99Gly) NC_000018.10:28013692:T:C Identity +NM_003922.4:c.3974G>A NP_003913.3:p.Arg1325Lys NC_000015.10:63718577:C:T p.(Arg1325Lys) NC_000015.10:63718577:C:T p.(Arg1325Lys) NC_000015.10:63718577:C:T Identity +NM_001135999.2:c.1772C>G NP_001129471.2:p.Thr591Ser NC_000009.12:35548292:C:G p.(Thr591Ser) NC_000009.12:35548292:C:G p.(Thr591Ser) NC_000009.12:35548292:C:G Identity +NM_002769.5:c.196A>T NP_002760.1:p.Lys66Ter NC_000007.14:142750709:A:T p.(Lys66Ter) NC_000007.14:142750709:A:T p.(Lys66Ter) NC_000007.14:142750709:A:T Identity +NM_001018088.3:c.10780C>T NP_001018098.1:p.Leu3594Phe NC_000015.10:61868741:G:A p.(Leu3594Phe) NC_000015.10:61868741:G:A p.(Leu3594Phe) NC_000015.10:61868741:G:A Identity +NM_000093.5:c.16C>T NP_000084.3:p.Arg6Cys NC_000009.12:134642202:C:T p.(Arg6Cys) NC_000009.12:134642202:C:T p.(Arg6Cys) NC_000009.12:134642202:C:T Identity +NM_001369.3:c.13718A>G NP_001360.1:p.Asn4573Ser NC_000005.10:13700644:T:C p.(Asn4573Ser) NC_000005.10:13700644:T:C p.(Asn4573Ser) NC_000005.10:13700644:T:C Identity +NM_000341.4:c.1237C>G NP_000332.2:p.Leu413Val NC_000002.12:44304242:C:G p.(Leu413Val) NC_000002.12:44304242:C:G p.(Leu413Val) NC_000002.12:44304242:C:G Identity +NM_001008738.3:c.2128G>T NP_001008738.3:p.Val710Leu NC_000005.10:131672231:C:A p.(Val710Leu) NC_000005.10:131672231:C:A p.(Val710Leu) NC_000005.10:131672231:C:A Identity +NM_001286414.3:c.171G>C NP_001273343.1:p.Glu57Asp NC_000015.10:43376189:G:C p.(Glu57Asp) NC_000015.10:43376189:G:C p.(Glu57Asp) NC_000015.10:43376189:G:C Identity +NM_000536.4:c.1117G>A NP_000527.2:p.Gly373Arg NC_000011.10:36593051:C:T p.(Gly373Arg) NC_000011.10:36593051:C:T p.(Gly373Arg) NC_000011.10:36593051:C:T Identity +NM_001127487.2:c.6806T>C NP_001120959.1:p.Phe2269Ser NC_000007.14:128854589:T:C p.(Phe2269Ser) NC_000007.14:128854589:T:C p.(Phe2269Ser) NC_000007.14:128854589:T:C Identity +NM_001410846.1:c.1040C>T NP_001397775.1:p.Ser347Leu NC_000020.11:48966006:C:T p.(Ser347Leu) NC_000020.11:48966006:C:T p.(Ser347Leu) NC_000020.11:48966006:C:T Identity +NM_001242581.2:c.337G>A NP_001229510.1:p.Glu113Lys NC_000020.11:19956645:G:A p.(Glu113Lys) NC_000020.11:19956645:G:A p.(Glu113Lys) NC_000020.11:19956645:G:A Identity +NM_015488.5:c.637G>A NP_056303.3:p.Val213Met NC_000002.12:218341999:G:A p.(Val213Met) NC_000002.12:218341999:G:A p.(Val213Met) NC_000002.12:218341999:G:A Identity +NM_001005207.5:c.608C>T NP_001005207.1:p.Thr203Ile NC_000017.11:59079761:G:A p.(Thr203Ile) NC_000017.11:59079761:G:A p.(Thr203Ile) NC_000017.11:59079761:G:A Identity +NM_001164097.2:c.3462T>G NP_001157569.1:p.Asp1154Glu NC_000005.10:83539425:T:G p.(Asp1154Glu) NC_000005.10:83539425:T:G p.(Asp1154Glu) NC_000005.10:83539425:T:G Identity +NM_014845.6:c.263G>T NP_055660.1:p.Arg88Leu NC_000006.12:109716541:G:T p.(Arg88Leu) NC_000006.12:109716541:G:T p.(Arg88Leu) NC_000006.12:109716541:G:T Identity +NM_032833.5:c.1765A>G NP_116222.4:p.Lys589Glu NC_000001.11:204409646:T:C p.(Lys589Glu) NC_000001.11:204409646:T:C p.(Lys589Glu) NC_000001.11:204409646:T:C Identity +NM_033071.5:c.8086G>C NP_149062.2:p.Glu2696Gln NC_000006.12:152390391:C:G p.(Glu2696Gln) NC_000006.12:152390391:C:G p.(Glu2696Gln) NC_000006.12:152390391:C:G Identity +NM_001289395.2:c.364C>A NP_001276324.1:p.Pro122Thr NC_000006.12:35509904:G:T p.(Pro122Thr) NC_000006.12:35509904:G:T p.(Pro122Thr) NC_000006.12:35509904:G:T Identity +NM_020461.4:c.2371C>T NP_065194.3:p.Arg791Trp NC_000022.11:50222491:G:A p.(Arg791Trp) NC_000022.11:50222491:G:A p.(Arg791Trp) NC_000022.11:50222491:G:A Identity +NM_000286.3:c.980G>A NP_000277.1:p.Arg327His NC_000017.11:35575881:C:T p.(Arg327His) NC_000017.11:35575881:C:T p.(Arg327His) NC_000017.11:35575881:C:T Identity +NM_032040.5:c.873C>G NP_114429.2:p.Ile291Met NC_000019.10:46411937:G:C p.(Ile291Met) NC_000019.10:46411937:G:C p.(Ile291Met) NC_000019.10:46411937:G:C Identity +NM_001010938.2:c.2182C>T NP_001010938.2:p.Leu728Phe NC_000003.12:195868187:G:A p.(Leu728Phe) NC_000003.12:195868187:G:A p.(Leu728Phe) NC_000003.12:195868187:G:A Identity +NM_000720.4:c.1914T>G NP_000711.1:p.Phe638Leu NC_000003.12:53723620:T:G p.(Phe638Leu) NC_000003.12:53723620:T:G p.(Phe638Leu) NC_000003.12:53723620:T:G Identity +NM_080473.5:c.742A>T NP_536721.1:p.Thr248Ser NC_000020.11:62466508:T:A p.(Thr248Ser) NC_000020.11:62466508:T:A p.(Thr248Ser) NC_000020.11:62466508:T:A Identity +NM_001317924.2:c.46C>T NP_001304853.1:p.Gln16Ter NC_000004.12:39203644:C:T p.(Gln16Ter) NC_000004.12:39203644:C:T p.(Gln16Ter) NC_000004.12:39203644:C:T Identity +NM_001142617.2:c.65G>C NP_001136089.1:p.Ser22Thr NC_000015.10:74202202:C:G p.(Ser22Thr) NC_000015.10:74202202:C:G p.(Ser22Thr) NC_000015.10:74202202:C:G Identity +NM_015346.4:c.1237C>G NP_056161.2:p.Leu413Val NC_000014.9:67805250:G:C p.(Leu413Val) NC_000014.9:67805250:G:C p.(Leu413Val) NC_000014.9:67805250:G:C Identity +NM_001037333.3:c.3605A>G NP_001032410.1:p.Lys1202Arg NC_000005.10:157392842:A:G p.(Lys1202Arg) NC_000005.10:157392842:A:G p.(Lys1202Arg) NC_000005.10:157392842:A:G Identity +NM_000069.3:c.4850C>A NP_000060.2:p.Ser1617Tyr NC_000001.11:201043478:G:T p.(Ser1617Tyr) NC_000001.11:201043478:G:T p.(Ser1617Tyr) NC_000001.11:201043478:G:T Identity +NM_001170794.2:c.635T>C NP_001164265.1:p.Val212Ala NC_000006.12:89951470:A:G p.(Val212Ala) NC_000006.12:89951470:A:G p.(Val212Ala) NC_000006.12:89951470:A:G Identity +NM_005560.6:c.2243C>T NP_005551.3:p.Ala748Val NC_000020.11:62336419:G:A p.(Ala748Val) NC_000020.11:62336419:G:A p.(Ala748Val) NC_000020.11:62336419:G:A Identity +NM_001305275.2:c.1298G>C NP_001292204.1:p.Gly433Ala NC_000001.11:1042075:G:C p.(Gly433Ala) NC_000001.11:1042075:G:C p.(Gly433Ala) NC_000001.11:1042075:G:C Identity +NM_031935.3:c.2623A>G NP_114141.2:p.Lys875Glu NC_000001.11:185981033:A:G p.(Lys875Glu) NC_000001.11:185981033:A:G p.(Lys875Glu) NC_000001.11:185981033:A:G Identity +NM_000260.4:c.1133G>T NP_000251.3:p.Arg378Leu NC_000011.10:77160214:G:T p.(Arg378Leu) NC_000011.10:77160214:G:T p.(Arg378Leu) NC_000011.10:77160214:G:T Identity +NM_017570.5:c.2905C>T NP_060040.1:p.Arg969Cys NC_000008.11:144053095:G:A p.(Arg969Cys) NC_000008.11:144053095:G:A p.(Arg969Cys) NC_000008.11:144053095:G:A Identity +NM_001252020.2:c.4409C>A NP_001238949.1:p.Ala1470Asp NC_000015.10:31002341:G:T p.(Ala1470Asp) NC_000015.10:31002341:G:T p.(Ala1470Asp) NC_000015.10:31002341:G:T Identity +NM_001365999.1:c.6418A>G NP_001352928.1:p.Met2140Val NC_000001.11:43437811:A:G p.(Met2140Val) NC_000001.11:43437811:A:G p.(Met2140Val) NC_000001.11:43437811:A:G Identity +NM_001346813.1:c.1145C>T NP_001333742.1:p.Pro382Leu NC_000006.12:156779073:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_015180.6:c.19898G>C NP_055995.4:p.Ser6633Thr NC_000014.9:64220542:G:C p.(Ser6633Thr) NC_000014.9:64220542:G:C p.(Ser6633Thr) NC_000014.9:64220542:G:C Identity +NM_001308379.2:c.183_187del NP_001295308.1:p.Leu62fs NC_000003.12:50345137:CCAGC: p.(Leu62HisfsTer65) NC_000003.12:50345137:CCAGC: p.(Leu62HisfsTer65) NC_000003.12:50345137:CCAGC: Analogous +NM_001287758.2:c.3631G>A NP_001274687.1:p.Gly1211Ser NC_000023.11:108169605:C:T p.(Gly1211Ser) NC_000023.11:108169605:C:T p.(Gly1211Ser) NC_000023.11:108169605:C:T Identity +NM_207391.3:c.380_381delinsTT NP_997274.2:p.Arg127Leu NC_000019.10:32676642:GC:TT p.(Arg127Leu) NC_000019.10:32676642:GC:TT p.(Arg127Leu) NC_000019.10:32676642:GC:TT Identity +NM_001302884.2:c.2419C>G NP_001289813.1:p.Leu807Val NC_000009.12:97483076:C:G p.(Leu807Val) NC_000009.12:97483076:C:G p.(Leu807Val) NC_000009.12:97483076:C:G Identity +NM_000747.3:c.288C>A NP_000738.2:p.Asp96Glu NC_000017.11:7446876:C:A p.(Asp96Glu) NC_000017.11:7446876:C:A p.(Asp96Glu) NC_000017.11:7446876:C:A Identity +NM_001288951.2:c.1750C>A NP_001275880.1:p.His584Asn NC_000002.12:47029331:C:A p.(His584Asn) NC_000002.12:47029331:C:A p.(His584Asn) NC_000002.12:47029331:C:A Identity +NM_025114.4:c.5648A>C NP_079390.3:p.Lys1883Thr NC_000012.12:88077282:T:G p.(Lys1883Thr) NC_000012.12:88077282:T:G p.(Lys1883Thr) NC_000012.12:88077282:T:G Identity +NM_000878.5:c.1022A>C NP_000869.1:p.Asp341Ala NC_000022.11:37128729:T:G p.(Asp341Ala) NC_000022.11:37128729:T:G p.(Asp341Ala) NC_000022.11:37128729:T:G Identity +NM_022047.4:c.593G>A NP_071330.3:p.Gly198Asp NC_000006.12:35312470:G:A p.(Gly198Asp) NC_000006.12:35312470:G:A p.(Gly198Asp) NC_000006.12:35312470:G:A Identity +NM_001035.3:c.12960A>T NP_001026.2:p.Glu4320Asp NC_000001.11:237784671:A:T p.(Glu4320Asp) NC_000001.11:237784671:A:T p.(Glu4320Asp) NC_000001.11:237784671:A:T Identity +NM_001370534.1:c.889G>A NP_001357463.1:p.Ala297Thr NC_000016.10:74644638:C:T p.(Ala297Thr) NC_000016.10:74644638:C:T p.(Ala297Thr) NC_000016.10:74644638:C:T Identity +NM_001197330.2:c.1388C>T NP_001184259.1:p.Thr463Met NC_000014.9:49650295:G:A p.(Thr463Met) NC_000014.9:49650295:G:A p.(Thr463Met) NC_000014.9:49650295:G:A Identity +NM_001018113.3:c.2275A>G NP_001018123.1:p.Met759Val NC_000023.11:14843871:T:C p.(Met759Val) NC_000023.11:14843871:T:C p.(Met759Val) NC_000023.11:14843871:T:C Identity +NM_001197104.2:c.8482A>C NP_001184033.1:p.Asn2828His NC_000011.10:118504373:A:C p.(Asn2828His) NC_000011.10:118504373:A:C p.(Asn2828His) NC_000011.10:118504373:A:C Identity +NM_021072.4:c.2545G>T NP_066550.2:p.Ala849Ser NC_000005.10:45262048:C:A p.(Ala849Ser) NC_000005.10:45262048:C:A p.(Ala849Ser) NC_000005.10:45262048:C:A Identity +NM_000491.5:c.751A>G NP_000482.3:p.Met251Val NC_000001.11:22661374:A:G p.(Met251Val) NC_000001.11:22661374:A:G p.(Met251Val) NC_000001.11:22661374:A:G Identity +NM_005144.5:c.2240G>A NP_005135.2:p.Arg747His NC_000008.11:22121191:C:T p.(Arg747His) NC_000008.11:22121191:C:T p.(Arg747His) NC_000008.11:22121191:C:T Identity +NM_000170.3:c.2954C>T NP_000161.2:p.Thr985Met NC_000009.12:6533125:G:A p.(Thr985Met) NC_000009.12:6533125:G:A p.(Thr985Met) NC_000009.12:6533125:G:A Identity +NM_001410846.1:c.3064G>A NP_001397775.1:p.Gly1022Arg NC_000020.11:48994543:G:A p.(Gly1022Arg) NC_000020.11:48994543:G:A p.(Gly1022Arg) NC_000020.11:48994543:G:A Identity +NM_025014.2:c.2479G>T NP_079290.1:p.Glu827Ter NC_000017.11:8320945:G:T p.(Glu827Ter) NC_000017.11:8320945:G:T p.(Glu827Ter) NC_000017.11:8320945:G:T Identity +NM_033071.5:c.344A>G NP_149062.2:p.Asn115Ser NC_000006.12:152511089:T:C p.(Asn115Ser) NC_000006.12:152511089:T:C p.(Asn115Ser) NC_000006.12:152511089:T:C Identity +NM_001164507.2:c.11752A>G NP_001157979.2:p.Thr3918Ala NC_000002.12:151612238:T:C p.(Thr3918Ala) NC_000002.12:151612238:T:C p.(Thr3918Ala) NC_000002.12:151612238:T:C Identity +NM_017866.6:c.709G>T NP_060336.3:p.Gly237Cys NC_000008.11:73981546:G:T p.(Gly237Cys) NC_000008.11:73981546:G:T p.(Gly237Cys) NC_000008.11:73981546:G:T Identity +NM_016035.5:c.493A>G NP_057119.3:p.Met165Val NC_000009.12:128332242:A:G p.(Met165Val) NC_000009.12:128332242:A:G p.(Met165Val) NC_000009.12:128332242:A:G Identity +NM_001377486.1:c.552T>A NP_001364415.1:p.Tyr184Ter NC_000016.10:81363897:T:A p.(Tyr184Ter) NC_000016.10:81363897:T:A p.(Tyr184Ter) NC_000016.10:81363897:T:A Identity +NM_000663.5:c.563G>C NP_000654.2:p.Gly188Ala NC_000016.10:8766229:G:C p.(Gly188Ala) NC_000016.10:8766229:G:C p.(Gly188Ala) NC_000016.10:8766229:G:C Identity +NM_000068.4:c.5516G>A NP_000059.3:p.Arg1839His NC_000019.10:13230111:C:T p.(Arg1839His) NC_000019.10:13230111:C:T p.(Arg1839His) NC_000019.10:13230111:C:T Identity +NM_001024858.4:c.6037C>T NP_001020029.1:p.Gln2013Ter NC_000014.9:64767844:G:A p.(Gln2013Ter) NC_000014.9:64767844:G:A p.(Gln2013Ter) NC_000014.9:64767844:G:A Identity +NM_001006658.3:c.1231C>T NP_001006659.1:p.Gln411Ter NC_000001.11:207470744:C:T p.(Gln411Ter) NC_000001.11:207470744:C:T p.(Gln411Ter) NC_000001.11:207470744:C:T Identity +NM_001195227.2:c.2471_2472delinsCC NP_001182156.1:p.Arg824Pro NC_000019.10:49200737:GT:CC p.(Arg824Pro) NC_000019.10:49200737:GT:CC p.(Arg824Pro) NC_000019.10:49200737:GT:CC Identity +NM_000350.3:c.587C>G NP_000341.2:p.Pro196Arg NC_000001.11:94098974:G:C p.(Pro196Arg) NC_000001.11:94098974:G:C p.(Pro196Arg) NC_000001.11:94098974:G:C Identity +NM_001354689.3:c.310G>A NP_001341618.1:p.Glu104Lys NC_000003.12:12611959:C:T p.(Glu104Lys) NC_000003.12:12611959:C:T p.(Glu104Lys) NC_000003.12:12611959:C:T Identity +NM_032409.3:c.1273C>T NP_115785.1:p.Pro425Ser NC_000001.11:20649015:C:T p.(Pro425Ser) NC_000001.11:20649015:C:T p.(Pro425Ser) NC_000001.11:20649015:C:T Identity +NM_000057.4:c.2872G>T NP_000048.1:p.Val958Leu NC_000015.10:90790696:G:T p.(Val958Leu) NC_000015.10:90790696:G:T p.(Val958Leu) NC_000015.10:90790696:G:T Identity +NM_001410772.1:c.1486G>T NP_001397701.1:p.Ala496Ser NC_000003.12:52403604:C:A p.(Ala496Ser) NC_000003.12:52403604:C:A p.(Ala496Ser) NC_000003.12:52403604:C:A Identity +NM_000151.4:c.970G>A NP_000142.2:p.Val324Ile NC_000017.11:42911321:G:A p.(Val324Ile) NC_000017.11:42911321:G:A p.(Val324Ile) NC_000017.11:42911321:G:A Identity +NM_001199216.2:c.685G>A NP_001186145.1:p.Gly229Ser NC_000019.10:35300193:G:A p.(Gly229Ser) NC_000019.10:35300193:G:A p.(Gly229Ser) NC_000019.10:35300193:G:A Identity +NM_001105206.3:c.2770G>A NP_001098676.2:p.Val924Ile NC_000006.12:112141400:C:T p.(Val924Ile) NC_000006.12:112141400:C:T p.(Val924Ile) NC_000006.12:112141400:C:T Identity +NM_030665.4:c.1368G>T NP_109590.3:p.Lys456Asn NC_000017.11:17794315:G:T p.(Lys456Asn) NC_000017.11:17794315:G:T p.(Lys456Asn) NC_000017.11:17794315:G:T Identity +NM_001039476.3:c.1067C>T NP_001034565.1:p.Thr356Met NC_000016.10:86810:G:A p.(Thr356Met) NC_000016.10:86810:G:A p.(Thr356Met) NC_000016.10:86810:G:A Identity +NM_014423.4:c.2045A>G NP_055238.1:p.Glu682Gly NC_000005.10:132896584:T:C p.(Glu682Gly) NC_000005.10:132896584:T:C p.(Glu682Gly) NC_000005.10:132896584:T:C Identity +NM_015512.5:c.2553C>A NP_056327.4:p.Ser851Arg NC_000003.12:52350014:C:A p.(Ser851Arg) NC_000003.12:52350014:C:A p.(Ser851Arg) NC_000003.12:52350014:C:A Identity +NM_001278055.2:c.5081T>C NP_001264984.1:p.Leu1694Pro NC_000013.11:23338353:A:G p.(Leu1694Pro) NC_000013.11:23338353:A:G p.(Leu1694Pro) NC_000013.11:23338353:A:G Identity +NM_001317012.2:c.1905G>A NP_001303941.1:p.Ser635= NC_000020.11:23370209:G:A p.(Ser635=) NC_000020.11:23370209:G:A p.(Ser635=) NC_000020.11:23370209:G:A Identity +NM_001367830.1:c.5015A>C NP_001354759.1:p.His1672Pro NC_000019.10:11208944:T:G p.(His1672Pro) NC_000019.10:11208944:T:G p.(His1672Pro) NC_000019.10:11208944:T:G Identity +NM_032242.4:c.1853G>A NP_115618.3:p.Arg618His NC_000003.12:127005198:G:A p.(Arg618His) NC_000003.12:127005198:G:A p.(Arg618His) NC_000003.12:127005198:G:A Identity +NM_020745.4:c.2306G>A NP_065796.2:p.Arg769His NC_000006.12:44302859:C:T p.(Arg769His) NC_000006.12:44302859:C:T p.(Arg769His) NC_000006.12:44302859:C:T Identity +NM_004531.5:c.77A>T NP_004522.1:p.Asp26Val NC_000005.10:53107097:T:A p.(Asp26Val) NC_000005.10:53107097:T:A p.(Asp26Val) NC_000005.10:53107097:T:A Identity +NM_001972.4:c.581A>T NP_001963.1:p.Gln194Leu NC_000019.10:855777:A:T p.(Gln194Leu) NC_000019.10:855777:A:T p.(Gln194Leu) NC_000019.10:855777:A:T Identity +NM_001318369.2:c.1054A>G NP_001305298.1:p.Ile352Val NC_000011.10:20637189:A:G p.(Ile352Val) NC_000011.10:20637189:A:G p.(Ile352Val) NC_000011.10:20637189:A:G Identity +NM_001042385.2:c.701C>G NP_001035844.1:p.Thr234Ser NC_000002.12:44342467:G:C p.(Thr234Ser) NC_000002.12:44342467:G:C p.(Thr234Ser) NC_000002.12:44342467:G:C Identity +NM_139058.3:c.632C>G NP_620689.1:p.Pro211Arg NC_000023.11:25013362:G:C p.(Pro211Arg) NC_000023.11:25013362:G:C p.(Pro211Arg) NC_000023.11:25013362:G:C Identity +NM_002900.3:c.3577C>T NP_002891.1:p.Pro1193Ser NC_000010.11:47357289:C:T p.(Pro1193Ser) NC_000010.11:47357289:C:T p.(Pro1193Ser) NC_000010.11:47357289:C:T Identity +NM_000251.3:c.290A>G NP_000242.1:p.Gln97Arg NC_000002.12:47408478:A:G p.(Gln97Arg) NC_000002.12:47408478:A:G p.(Gln97Arg) NC_000002.12:47408478:A:G Identity +NM_001410805.1:c.890G>A NP_001397734.1:p.Arg297His NC_000003.12:128906229:G:A p.(Arg297His) NC_000003.12:128906229:G:A p.(Arg297His) NC_000003.12:128906229:G:A Identity +NM_001037633.2:c.125A>C NP_001032722.1:p.Asn42Thr NC_000005.10:139121153:T:G p.(Asn42Thr) NC_000005.10:139121153:T:G p.(Asn42Thr) NC_000005.10:139121153:T:G Identity +NM_000328.3:c.320A>G NP_000319.1:p.Asn107Ser NC_000023.11:38318977:T:C p.(Asn107Ser) NC_000023.11:38318977:T:C p.(Asn107Ser) NC_000023.11:38318977:T:C Identity +NM_000492.4:c.3471G>A NP_000483.3:p.Met1157Ile NC_000007.14:117627523:G:A p.(Met1157Ile) NC_000007.14:117627523:G:A p.(Met1157Ile) NC_000007.14:117627523:G:A Identity +NM_000384.3:c.10496A>G NP_000375.3:p.Asp3499Gly NC_000002.12:21006371:T:C p.(Asp3499Gly) NC_000002.12:21006371:T:C p.(Asp3499Gly) NC_000002.12:21006371:T:C Identity +NM_001291902.2:c.81G>C NP_001278831.1:p.Arg27Ser NC_000011.10:68406545:G:C p.(Arg27Ser) NC_000011.10:68406545:G:C p.(Arg27Ser) NC_000011.10:68406545:G:C Identity +NM_000030.3:c.983dup NP_000021.1:p.Gly329fs NC_000002.12:240878061:C:CC p.(Gly329TrpfsTer3) NC_000002.12:240878061:C:CC p.(Gly329TrpfsTer3) ERR:SPDI Analogous +NM_001149.4:c.2820A>C NP_001140.2:p.Glu940Asp NC_000010.11:60055774:T:G p.(Glu940Asp) NC_000010.11:60055774:T:G p.(Glu940Asp) NC_000010.11:60055774:T:G Identity +NM_001008738.3:c.835A>G NP_001008738.3:p.Ile279Val NC_000005.10:131704261:T:C p.(Ile279Val) NC_000005.10:131704261:T:C p.(Ile279Val) NC_000005.10:131704261:T:C Identity +NM_001256182.2:c.1405T>C NP_001243111.1:p.Phe469Leu NC_000016.10:89285136:A:G p.(Phe469Leu) NC_000016.10:89285136:A:G p.(Phe469Leu) NC_000016.10:89285136:A:G Identity +NM_001177310.2:c.1228G>T NP_001170781.1:p.Ala410Ser NC_000009.12:74816733:C:A p.(Ala410Ser) NC_000009.12:74816733:C:A p.(Ala410Ser) NC_000009.12:74816733:C:A Identity +NM_000109.4:c.1423C>A NP_000100.3:p.Leu475Ile NC_000023.11:32614337:G:T p.(Leu475Ile) NC_000023.11:32614337:G:T p.(Leu475Ile) NC_000023.11:32614337:G:T Identity +NM_000425.5:c.1774G>A NP_000416.1:p.Val592Met NC_000023.11:153868051:C:T p.(Val592Met) NC_000023.11:153868051:C:T p.(Val592Met) NC_000023.11:153868051:C:T Identity +NM_000135.4:c.4135C>A NP_000126.2:p.Pro1379Thr NC_000016.10:89739164:G:T p.(Pro1379Thr) NC_000016.10:89739164:G:T p.(Pro1379Thr) NC_000016.10:89739164:G:T Identity +NM_001042465.3:c.868G>T NP_001035930.1:p.Val290Leu NC_000010.11:71821925:C:A p.(Val290Leu) NC_000010.11:71821925:C:A p.(Val290Leu) NC_000010.11:71821925:C:A Identity +NM_206933.4:c.8546G>A NP_996816.3:p.Gly2849Glu NC_000001.11:215878775:C:T p.(Gly2849Glu) NC_000001.11:215878775:C:T p.(Gly2849Glu) NC_000001.11:215878775:C:T Identity +NM_001173466.2:c.326C>T NP_001166937.1:p.Thr109Met NC_000012.12:53315407:G:A p.(Thr109Met) NC_000012.12:53315407:G:A p.(Thr109Met) NC_000012.12:53315407:G:A Identity +NM_005477.3:c.2774T>C NP_005468.1:p.Leu925Pro NC_000015.10:73323318:A:G p.(Leu925Pro) NC_000015.10:73323318:A:G p.(Leu925Pro) NC_000015.10:73323318:A:G Identity +NM_001142763.2:c.1514T>A NP_001136235.1:p.Met505Lys NC_000010.11:54183534:A:T p.(Met505Lys) NC_000010.11:54183534:A:T p.(Met505Lys) NC_000010.11:54183534:A:T Identity +NM_001079802.2:c.1313G>A NP_001073270.1:p.Arg438His NC_000009.12:105635190:G:A p.(Arg438His) NC_000009.12:105635190:G:A p.(Arg438His) NC_000009.12:105635190:G:A Identity +NM_001203247.2:c.188G>A NP_001190176.1:p.Arg63Gln NC_000007.14:148846527:C:T p.(Arg63Gln) NC_000007.14:148846527:C:T p.(Arg63Gln) NC_000007.14:148846527:C:T Identity +NM_001079878.2:c.1871C>A NP_001073347.1:p.Thr624Asn NC_000002.12:98397094:C:A p.(Thr624Asn) NC_000002.12:98397094:C:A p.(Thr624Asn) NC_000002.12:98397094:C:A Identity +NM_001271999.2:c.649G>A NP_001258928.1:p.Glu217Lys NC_000001.11:62648188:C:T p.(Glu217Lys) NC_000001.11:62648188:C:T p.(Glu217Lys) NC_000001.11:62648188:C:T Identity +NM_001368263.1:c.2282A>G NP_001355192.1:p.Asn761Ser NC_000003.12:45520285:A:G p.(Asn761Ser) NC_000003.12:45520285:A:G p.(Asn761Ser) NC_000003.12:45520285:A:G Identity +NM_002848.4:c.1255A>G NP_002839.1:p.Ser419Gly NC_000012.12:15504056:A:G p.(Ser419Gly) NC_000012.12:15504056:A:G p.(Ser419Gly) NC_000012.12:15504056:A:G Identity +NM_000059.4:c.4399del NP_000050.3:p.His1467fs NC_000013.11:32338753:C: p.(His1467IlefsTer4) NC_000013.11:32338753:C: p.(His1467IlefsTer4) NC_000013.11:32338753:C: Analogous +NM_001256213.2:c.670G>A NP_001243142.1:p.Glu224Lys NC_000019.10:41985392:C:T p.(Glu224Lys) NC_000019.10:41985392:C:T p.(Glu224Lys) NC_000019.10:41985392:C:T Identity +NM_000083.3:c.2821_2822del NP_000074.3:p.Ser941fs NC_000007.14:143351813:CTCTCTC:CTCTC p.(Ser941ProfsTer42) NC_000007.14:143351813:CTCTCTC:CTCTC p.(Ser941ProfsTer42) NC_000007.14:143351818:TC: Analogous +NM_015509.4:c.586A>C NP_056324.2:p.Thr196Pro NC_000012.12:8092964:A:C p.(Thr196Pro) NC_000012.12:8092964:A:C p.(Thr196Pro) NC_000012.12:8092964:A:C Identity +NM_015692.5:c.5164C>A NP_056507.3:p.Pro1722Thr NC_000019.10:16896566:G:T p.(Pro1722Thr) NC_000019.10:16896566:G:T p.(Pro1722Thr) NC_000019.10:16896566:G:T Identity +NM_002087.4:c.1326C>G NP_002078.1:p.Ile442Met NC_000017.11:44352160:C:G p.(Ile442Met) NC_000017.11:44352160:C:G p.(Ile442Met) NC_000017.11:44352160:C:G Identity +NM_000268.4:c.49A>G NP_000259.1:p.Lys17Glu NC_000022.11:29604046:A:G p.(Lys17Glu) NC_000022.11:29604046:A:G p.(Lys17Glu) NC_000022.11:29604046:A:G Identity +NM_001127487.2:c.535A>T NP_001120959.1:p.Thr179Ser NC_000007.14:128835507:A:T p.(Thr179Ser) NC_000007.14:128835507:A:T p.(Thr179Ser) NC_000007.14:128835507:A:T Identity +NM_138694.4:c.11387C>T NP_619639.3:p.Ser3796Leu NC_000006.12:51648041:G:A p.(Ser3796Leu) NC_000006.12:51648041:G:A p.(Ser3796Leu) NC_000006.12:51648041:G:A Identity +NM_001127897.4:c.2952G>C NP_001121369.1:p.Gln984His NC_000016.10:53641038:C:G p.(Gln984His) NC_000016.10:53641038:C:G p.(Gln984His) NC_000016.10:53641038:C:G Identity +NM_000071.3:c.1382T>G NP_000062.1:p.Leu461Arg NC_000021.9:43058229:A:C p.(Leu461Arg) NC_000021.9:43058229:A:C p.(Leu461Arg) NC_000021.9:43058229:A:C Identity +NM_001166226.2:c.1603A>G NP_001159698.1:p.Lys535Glu NC_000005.10:123385032:T:C p.(Lys535Glu) NC_000005.10:123385032:T:C p.(Lys535Glu) NC_000005.10:123385032:T:C Identity +NM_001374085.1:c.326G>A NP_001361014.1:p.Arg109Gln NC_000002.12:218661410:G:A p.(Arg109Gln) NC_000002.12:218661410:G:A p.(Arg109Gln) NC_000002.12:218661410:G:A Identity +NM_001080512.3:c.1148G>C NP_001073981.1:p.Ser383Thr NC_000010.11:58793583:G:C p.(Ser383Thr) NC_000010.11:58793583:G:C p.(Ser383Thr) NC_000010.11:58793583:G:C Identity +NM_001283009.2:c.2699T>G NP_001269938.1:p.Met900Arg NC_000020.11:63692850:T:G p.(Met900Arg) NC_000020.11:63692850:T:G p.(Met900Arg) NC_000020.11:63692850:T:G Identity +NM_001294347.2:c.1858C>T NP_001281276.1:p.Leu620Phe NC_000001.11:36097627:G:A p.(Leu620Phe) NC_000001.11:36097627:G:A p.(Leu620Phe) NC_000001.11:36097627:G:A Identity +NM_018060.4:c.2359C>T NP_060530.3:p.Arg787Trp NC_000001.11:220140233:C:T p.(Arg787Trp) NC_000001.11:220140233:C:T p.(Arg787Trp) NC_000001.11:220140233:C:T Identity +NM_080679.3:c.4538C>T NP_542410.2:p.Thr1513Met NC_000006.12:33164855:G:A p.(Thr1513Met) NC_000006.12:33164855:G:A p.(Thr1513Met) NC_000006.12:33164855:G:A Identity +NM_001291415.2:c.2859G>T NP_001278344.1:p.Arg953Ser NC_000023.11:45076696:G:T p.(Arg953Ser) NC_000023.11:45076696:G:T p.(Arg953Ser) NC_000023.11:45076696:G:T Identity +NM_001242307.2:c.1661C>A NP_001229236.1:p.Ala554Asp NC_000010.11:3151323:G:T p.(Ala554Asp) NC_000010.11:3151323:G:T p.(Ala554Asp) NC_000010.11:3151323:G:T Identity +NM_001170629.2:c.5147T>C NP_001164100.1:p.Met1716Thr NC_000014.9:21395332:A:G p.(Met1716Thr) NC_000014.9:21395332:A:G p.(Met1716Thr) NC_000014.9:21395332:A:G Identity +NM_001004356.3:c.490G>A NP_001004356.1:p.Val164Met NC_000004.12:1023872:G:A p.(Val164Met) NC_000004.12:1023872:G:A p.(Val164Met) NC_000004.12:1023872:G:A Identity +NM_080605.4:c.530G>A NP_542172.2:p.Arg177His NC_000001.11:1232807:G:A p.(Arg177His) NC_000001.11:1232807:G:A p.(Arg177His) NC_000001.11:1232807:G:A Identity +NM_001018037.2:c.2054G>T NP_001018047.1:p.Arg685Leu NC_000009.12:77250112:G:T p.(Arg685Leu) NC_000009.12:77250112:G:T p.(Arg685Leu) NC_000009.12:77250112:G:T Identity +NM_001351273.1:c.2234G>C NP_001338202.1:p.Gly745Ala NC_000019.10:1465537:G:C p.(Gly745Ala) NC_000019.10:1465537:G:C p.(Gly745Ala) NC_000019.10:1465537:G:C Identity +NM_015335.5:c.4025G>A NP_056150.1:p.Arg1342His NC_000012.12:115987197:C:T p.(Arg1342His) NC_000012.12:115987197:C:T p.(Arg1342His) NC_000012.12:115987197:C:T Identity +NM_006063.3:c.1468G>A NP_006054.2:p.Val490Ile NC_000002.12:169518280:G:A p.(Val490Ile) NC_000002.12:169518280:G:A p.(Val490Ile) NC_000002.12:169518280:G:A Identity +NM_001308133.2:c.2764A>G NP_001295062.1:p.Ser922Gly NC_000014.9:45175595:A:G p.(Ser922Gly) NC_000014.9:45175595:A:G p.(Ser922Gly) NC_000014.9:45175595:A:G Identity +NM_003791.4:c.2861C>G NP_003782.1:p.Ser954Cys NC_000016.10:84056105:G:C p.(Ser954Cys) NC_000016.10:84056105:G:C p.(Ser954Cys) NC_000016.10:84056105:G:C Identity +NM_005101.4:c.369G>T NP_005092.1:p.Trp123Cys NC_000001.11:1014348:G:T p.(Trp123Cys) NC_000001.11:1014348:G:T p.(Trp123Cys) NC_000001.11:1014348:G:T Identity +NM_013432.5:c.799A>G NP_038460.4:p.Lys267Glu NC_000008.11:144442102:T:C p.(Lys267Glu) NC_000008.11:144442102:T:C p.(Lys267Glu) NC_000008.11:144442102:T:C Identity +NM_012414.4:c.3380C>G NP_036546.2:p.Thr1127Ser NC_000001.11:220157444:G:C p.(Thr1127Ser) NC_000001.11:220157444:G:C p.(Thr1127Ser) NC_000001.11:220157444:G:C Identity +NM_001128610.3:c.1213C>T NP_001122082.1:p.Pro405Ser NC_000015.10:50477493:C:T p.(Pro405Ser) NC_000015.10:50477493:C:T p.(Pro405Ser) NC_000015.10:50477493:C:T Identity +NM_001170634.1:c.1570C>A NP_001164105.1:p.Pro524Thr NC_000016.10:31191429:C:A p.(Pro524Thr) NC_000016.10:31191429:C:A p.(Pro524Thr) NC_000016.10:31191429:C:A Identity +NM_001127396.3:c.988A>C NP_001120868.1:p.Met330Leu NC_000019.10:7643018:A:C p.(Met330Leu) NC_000019.10:7643018:A:C p.(Met330Leu) NC_000019.10:7643018:A:C Identity +NM_001317090.2:c.55T>C NP_001304019.1:p.Ser19Pro NC_000011.10:64293072:T:C p.(Ser19Pro) NC_000011.10:64293072:T:C p.(Ser19Pro) NC_000011.10:64293072:T:C Identity +NM_033109.5:c.293T>G NP_149100.2:p.Leu98Trp NC_000002.12:55686373:A:C p.(Leu98Trp) NC_000002.12:55686373:A:C p.(Leu98Trp) NC_000002.12:55686373:A:C Identity +NM_000018.4:c.1049G>A NP_000009.1:p.Gly350Asp NC_000017.11:7222836:G:A p.(Gly350Asp) NC_000017.11:7222836:G:A p.(Gly350Asp) NC_000017.11:7222836:G:A Identity +NM_001126131.2:c.3277A>G NP_001119603.1:p.Met1093Val NC_000015.10:89318745:T:C p.(Met1093Val) NC_000015.10:89318745:T:C p.(Met1093Val) NC_000015.10:89318745:T:C Identity +NM_004482.4:c.1690G>A NP_004473.2:p.Ala564Thr NC_000002.12:165749830:C:T p.(Ala564Thr) NC_000002.12:165749830:C:T p.(Ala564Thr) NC_000002.12:165749830:C:T Identity +NM_001079.4:c.1126G>A NP_001070.2:p.Glu376Lys NC_000002.12:97735292:G:A p.(Glu376Lys) NC_000002.12:97735292:G:A p.(Glu376Lys) NC_000002.12:97735292:G:A Identity +NM_000081.4:c.7774A>T NP_000072.2:p.Ile2592Phe NC_000001.11:235751215:T:A p.(Ile2592Phe) NC_000001.11:235751215:T:A p.(Ile2592Phe) NC_000001.11:235751215:T:A Identity +NM_000028.3:c.556T>G NP_000019.2:p.Ser186Ala NC_000001.11:99864480:T:G p.(Ser186Ala) NC_000001.11:99864480:T:G p.(Ser186Ala) NC_000001.11:99864480:T:G Identity +NM_001080976.3:c.420G>C NP_001074445.1:p.Leu140Phe NC_000006.12:116426576:G:C p.(Leu140Phe) NC_000006.12:116426576:G:C p.(Leu140Phe) NC_000006.12:116426576:G:C Identity +NM_001324192.1:c.832_833delinsAC NP_001311121.1:p.Arg278Thr NC_000020.11:3908128:CG:AC p.(Arg278Thr) NC_000020.11:3908128:CG:AC p.(Arg278Thr) NC_000020.11:3908128:CG:AC Identity +NM_001288721.2:c.157C>G NP_001275650.1:p.Arg53Gly NC_000011.10:62620575:G:C p.(Arg53Gly) NC_000011.10:62620575:G:C p.(Arg53Gly) NC_000011.10:62620575:G:C Identity +NM_000086.2:c.293C>T NP_000077.1:p.Ala98Val NC_000016.10:28488591:G:A p.(Ala98Val) NC_000016.10:28488591:G:A p.(Ala98Val) NC_000016.10:28488591:G:A Identity +NM_001034853.2:c.3071A>G NP_001030025.1:p.Glu1024Gly NC_000023.11:38285927:T:C p.(Glu1024Gly) NC_000023.11:38285927:T:C p.(Glu1024Gly) NC_000023.11:38285927:T:C Identity +NM_001286205.2:c.815A>T NP_001273134.1:p.Glu272Val NC_000016.10:90040351:A:T p.(Glu272Val) NC_000016.10:90040351:A:T p.(Glu272Val) NC_000016.10:90040351:A:T Identity +NM_144666.3:c.3457G>T NP_653267.2:p.Glu1153Ter NC_000011.10:6539911:G:T p.(Glu1153Ter) NC_000011.10:6539911:G:T p.(Glu1153Ter) NC_000011.10:6539911:G:T Identity +NM_000124.4:c.4120G>C NP_000115.1:p.Ala1374Pro NC_000010.11:49459176:C:G p.(Ala1374Pro) NC_000010.11:49459176:C:G p.(Ala1374Pro) NC_000010.11:49459176:C:G Identity +NM_001318918.2:c.628G>A NP_001305847.1:p.Ala210Thr NC_000016.10:4335164:G:A p.(Ala210Thr) NC_000016.10:4335164:G:A p.(Ala210Thr) NC_000016.10:4335164:G:A Identity +NM_001042517.2:c.1906C>T NP_001035982.1:p.Pro636Ser NC_000013.11:59970904:G:A p.(Pro636Ser) NC_000013.11:59970904:G:A p.(Pro636Ser) NC_000013.11:59970904:G:A Identity +NM_001306079.2:c.2326C>T NP_001293008.1:p.Arg776Ter NC_000002.12:27232093:C:T p.(Arg776Ter) NC_000002.12:27232093:C:T p.(Arg776Ter) NC_000002.12:27232093:C:T Identity +NM_000421.5:c.1418A>C NP_000412.4:p.Tyr473Ser NC_000017.11:40819116:T:G p.(Tyr473Ser) NC_000017.11:40819116:T:G p.(Tyr473Ser) NC_000017.11:40819116:T:G Identity +NM_001079878.2:c.875T>C NP_001073347.1:p.Ile292Thr NC_000002.12:98396098:T:C p.(Ile292Thr) NC_000002.12:98396098:T:C p.(Ile292Thr) NC_000002.12:98396098:T:C Identity +NM_001128617.3:c.517A>G NP_001122089.1:p.Thr173Ala NC_000006.12:138945329:T:C p.(Thr173Ala) NC_000006.12:138945329:T:C p.(Thr173Ala) NC_000006.12:138945329:T:C Identity +NM_001282225.2:c.1303C>T NP_001269154.1:p.Pro435Ser NC_000022.11:17181958:G:A p.(Pro435Ser) NC_000022.11:17181958:G:A p.(Pro435Ser) NC_000022.11:17181958:G:A Identity +NM_001145138.2:c.866C>G NP_001138610.1:p.Thr289Arg NC_000011.10:65658288:G:C p.(Thr289Arg) NC_000011.10:65658288:G:C p.(Thr289Arg) NC_000011.10:65658288:G:C Identity +NM_012452.3:c.91A>G NP_036584.1:p.Met31Val NC_000017.11:16952553:T:C p.(Met31Val) NC_000017.11:16952553:T:C p.(Met31Val) NC_000017.11:16952553:T:C Identity +NM_002470.4:c.1567G>A NP_002461.2:p.Glu523Lys NC_000017.11:10642839:C:T p.(Glu523Lys) NC_000017.11:10642839:C:T p.(Glu523Lys) NC_000017.11:10642839:C:T Identity +NM_020433.5:c.1459C>T NP_065166.2:p.Pro487Ser NC_000020.11:44116215:G:A p.(Pro487Ser) NC_000020.11:44116215:G:A p.(Pro487Ser) NC_000020.11:44116215:G:A Identity +NM_001165966.2:c.2044G>A NP_001159438.1:p.Val682Ile NC_000017.11:6464173:C:T p.(Val682Ile) NC_000017.11:6464173:C:T p.(Val682Ile) NC_000017.11:6464173:C:T Identity +NM_001042437.2:c.469G>T NP_001035902.1:p.Glu157Ter NC_000002.12:85847984:C:A p.(Glu157Ter) NC_000002.12:85847984:C:A p.(Glu157Ter) NC_000002.12:85847984:C:A Identity +NM_001077690.1:c.1661A>G NP_001071158.1:p.Asn554Ser NC_000011.10:111809693:T:C p.(Asn554Ser) NC_000011.10:111809693:T:C p.(Asn554Ser) NC_000011.10:111809693:T:C Identity +NM_001276378.2:c.555dup NP_001263307.1:p.Ile186fs NC_000003.12:45828609:AAAA:AAAAA p.(Ile186TyrfsTer8) NC_000003.12:45828609:AAAA:AAAAA p.(Ile186TyrfsTer8) ERR:SPDI Analogous +NM_018026.4:c.1126T>G NP_060496.2:p.Tyr376Asp NC_000011.10:66220717:T:G p.(Tyr376Asp) NC_000011.10:66220717:T:G p.(Tyr376Asp) NC_000011.10:66220717:T:G Identity +NM_000257.4:c.4090G>A NP_000248.2:p.Ala1364Thr NC_000014.9:23418288:C:T p.(Ala1364Thr) NC_000014.9:23418288:C:T p.(Ala1364Thr) NC_000014.9:23418288:C:T Identity +NM_001142966.3:c.3920G>A NP_001136438.1:p.Gly1307Asp NC_000018.10:21500256:G:A p.(Gly1307Asp) NC_000018.10:21500256:G:A p.(Gly1307Asp) NC_000018.10:21500256:G:A Identity +NM_001143839.4:c.1024G>A NP_001137311.1:p.Ala342Thr NC_000011.10:72588808:C:T p.(Ala342Thr) NC_000011.10:72588808:C:T p.(Ala342Thr) NC_000011.10:72588808:C:T Identity +NM_198075.4:c.1180C>A NP_932341.1:p.Arg394Ser NC_000011.10:552230:C:A p.(Arg394Ser) NC_000011.10:552230:C:A p.(Arg394Ser) NC_000011.10:552230:C:A Identity +NM_080679.3:c.1316G>T NP_542410.2:p.Arg439Leu NC_000006.12:33178947:C:A p.(Arg439Leu) NC_000006.12:33178947:C:A p.(Arg439Leu) NC_000006.12:33178947:C:A Identity +NM_004459.7:c.3734C>T NP_004450.3:p.Ser1245Leu NC_000017.11:67911239:C:T p.(Ser1245Leu) NC_000017.11:67911239:C:T p.(Ser1245Leu) NC_000017.11:67911239:C:T Identity +NM_001277961.3:c.974G>A NP_001264890.1:p.Arg325Gln NC_000011.10:4082187:G:A p.(Arg325Gln) NC_000011.10:4082187:G:A p.(Arg325Gln) NC_000011.10:4082187:G:A Identity +NM_001365819.1:c.4450T>C NP_001352748.1:p.Phe1484Leu NC_000022.11:50455252:A:G p.(Phe1484Leu) NC_000022.11:50455252:A:G p.(Phe1484Leu) NC_000022.11:50455252:A:G Identity +NM_001105243.2:c.615C>G NP_001098713.1:p.Ser205Arg NC_000023.11:100407982:G:C p.(Ser205Arg) NC_000023.11:100407982:G:C p.(Ser205Arg) NC_000023.11:100407982:G:C Identity +NM_001363260.1:c.241T>G NP_001350189.1:p.Ser81Ala NC_000008.11:95263688:A:C p.(Ser81Ala) NC_000008.11:95263688:A:C p.(Ser81Ala) NC_000008.11:95263688:A:C Identity +NM_001025107.3:c.1765G>A NP_001020278.1:p.Val589Ile NC_000001.11:154589774:C:T p.(Val589Ile) NC_000001.11:154589774:C:T p.(Val589Ile) NC_000001.11:154589774:C:T Identity +NM_000487.6:c.1330dup NP_000478.3:p.Leu444fs NC_000022.11:50625344:G:GG p.(Leu444ProfsTer129) NC_000022.11:50625344:G:GG p.(Leu444ProfsTer129) ERR:SPDI Analogous +NM_016013.4:c.172G>T NP_057097.2:p.Asp58Tyr NC_000015.10:41396887:C:A p.(Asp58Tyr) NC_000015.10:41396887:C:A p.(Asp58Tyr) NC_000015.10:41396887:C:A Identity +NM_001350248.2:c.397G>T NP_001337177.1:p.Glu133Ter NC_000001.11:243274632:G:T p.(Glu133Ter) NC_000001.11:243274632:G:T p.(Glu133Ter) NC_000001.11:243274632:G:T Identity +NM_015139.3:c.209C>A NP_055954.1:p.Pro70His NC_000001.11:67052983:G:T p.(Pro70His) NC_000001.11:67052983:G:T p.(Pro70His) NC_000001.11:67052983:G:T Identity +NM_001346813.1:c.1823C>T NP_001333742.1:p.Pro608Leu NC_000006.12:156901460:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000051.4:c.1525G>A NP_000042.3:p.Gly509Arg NC_000011.10:108250989:G:A p.(Gly509Arg) NC_000011.10:108250989:G:A p.(Gly509Arg) NC_000011.10:108250989:G:A Identity +NM_014510.3:c.6044A>G NP_055325.2:p.Tyr2015Cys NC_000007.14:82954908:T:C p.(Tyr2015Cys) NC_000007.14:82954908:T:C p.(Tyr2015Cys) NC_000007.14:82954908:T:C Identity +NM_001080414.4:c.4889G>T NP_001073883.2:p.Arg1630Leu NC_000014.9:91278090:C:A p.(Arg1630Leu) NC_000014.9:91278090:C:A p.(Arg1630Leu) NC_000014.9:91278090:C:A Identity +NM_003468.4:c.1490A>C NP_003459.2:p.Lys497Thr NC_000002.12:207767249:T:G p.(Lys497Thr) NC_000002.12:207767249:T:G p.(Lys497Thr) NC_000002.12:207767249:T:G Identity +NM_000249.4:c.268G>A NP_000240.1:p.Asp90Asn NC_000003.12:37001014:G:A p.(Asp90Asn) NC_000003.12:37001014:G:A p.(Asp90Asn) NC_000003.12:37001014:G:A Identity +NM_001272073.2:c.1714C>A NP_001259002.1:p.Pro572Thr NC_000003.12:49099120:G:T p.(Pro572Thr) NC_000003.12:49099120:G:T p.(Pro572Thr) NC_000003.12:49099120:G:T Identity +NM_030665.4:c.1369G>A NP_109590.3:p.Ala457Thr NC_000017.11:17794316:G:A p.(Ala457Thr) NC_000017.11:17794316:G:A p.(Ala457Thr) NC_000017.11:17794316:G:A Identity +NM_001039213.4:c.475A>G NP_001034302.2:p.Thr159Ala NC_000019.10:44704109:A:G p.(Thr159Ala) NC_000019.10:44704109:A:G p.(Thr159Ala) NC_000019.10:44704109:A:G Identity +NM_000497.4:c.703G>A NP_000488.3:p.Val235Ile NC_000008.11:142876777:C:T p.(Val235Ile) NC_000008.11:142876777:C:T p.(Val235Ile) NC_000008.11:142876777:C:T Identity +NM_001035506.1:c.1880T>C NP_001030583.1:p.Leu627Ser NC_000002.12:27059194:T:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001413033.1:c.419C>T NP_001399962.1:p.Pro140Leu NC_000008.11:144516699:G:A p.(Pro140Leu) NC_000008.11:144516699:G:A p.(Pro140Leu) NC_000008.11:144516699:G:A Identity +NM_001379141.1:c.4580C>T NP_001366070.1:p.Pro1527Leu NC_000018.10:45063486:C:T p.(Pro1527Leu) NC_000018.10:45063486:C:T p.(Pro1527Leu) NC_000018.10:45063486:C:T Identity +NM_001378120.1:c.3881C>A NP_001365049.1:p.Pro1294Gln NC_000002.12:148489512:C:A p.(Pro1294Gln) NC_000002.12:148489512:C:A p.(Pro1294Gln) NC_000002.12:148489512:C:A Identity +NM_019056.7:c.355A>G NP_061929.2:p.Arg119Gly NC_000023.11:47142596:T:C p.(Arg119Gly) NC_000023.11:47142596:T:C p.(Arg119Gly) NC_000023.11:47142596:T:C Identity +NM_001317924.2:c.3067A>G NP_001304853.1:p.Ile1023Val NC_000004.12:39273042:A:G p.(Ile1023Val) NC_000004.12:39273042:A:G p.(Ile1023Val) NC_000004.12:39273042:A:G Identity +NM_000260.4:c.4437C>A NP_000251.3:p.Phe1479Leu NC_000011.10:77197593:C:A p.(Phe1479Leu) NC_000011.10:77197593:C:A p.(Phe1479Leu) NC_000011.10:77197593:C:A Identity +NM_001294332.2:c.233T>C NP_001281261.1:p.Phe78Ser NC_000005.10:224441:T:C p.(Phe78Ser) NC_000005.10:224441:T:C p.(Phe78Ser) NC_000005.10:224441:T:C Identity +NM_001286445.3:c.3130G>A NP_001273374.1:p.Ala1044Thr NC_000006.12:24806386:C:T p.(Ala1044Thr) NC_000006.12:24806386:C:T p.(Ala1044Thr) NC_000006.12:24806386:C:T Identity +NM_004526.4:c.1207G>A NP_004517.2:p.Val403Met NC_000003.12:127608486:G:A p.(Val403Met) NC_000003.12:127608486:G:A p.(Val403Met) NC_000003.12:127608486:G:A Identity +NM_000445.5:c.6344G>A NP_000436.2:p.Arg2115Gln NC_000008.11:143923665:C:T p.(Arg2115Gln) NC_000008.11:143923665:C:T p.(Arg2115Gln) NC_000008.11:143923665:C:T Identity +NM_001001563.5:c.589A>G NP_001001563.2:p.Thr197Ala NC_000019.10:39486282:A:G p.(Thr197Ala) NC_000019.10:39486282:A:G p.(Thr197Ala) NC_000019.10:39486282:A:G Identity +NM_004304.5:c.19del NP_004295.2:p.Leu7fs NC_000002.12:29920640:GG:G p.(Leu7CysfsTer74) NC_000002.12:29920640:GG:G p.(Leu7CysfsTer74) NC_000002.12:29920640:G: Analogous +NM_014510.3:c.9153A>C NP_055325.2:p.Gln3051His NC_000007.14:82951434:T:G p.(Gln3051His) NC_000007.14:82951434:T:G p.(Gln3051His) NC_000007.14:82951434:T:G Identity +NM_014003.4:c.1704C>A NP_054722.2:p.Tyr568Ter NC_000016.10:72103667:C:A p.(Tyr568Ter) NC_000016.10:72103667:C:A p.(Tyr568Ter) NC_000016.10:72103667:C:A Identity +NM_000452.3:c.540G>C NP_000443.2:p.Met180Ile NC_000013.11:103052664:C:G p.(Met180Ile) NC_000013.11:103052664:C:G p.(Met180Ile) NC_000013.11:103052664:C:G Identity +NM_001349881.2:c.740A>C NP_001336810.1:p.Tyr247Ser NC_000001.11:111118220:T:G p.(Tyr247Ser) NC_000001.11:111118220:T:G p.(Tyr247Ser) NC_000001.11:111118220:T:G Identity +NM_001003652.4:c.418CAT[1] NP_001003652.1:p.His141del NC_000018.10:47869339:ATGATGA:ATGA p.(His141del) NC_000018.10:47869344:G:ATG ERR:Parse ERR:Parse Identity +NM_000179.3:c.2239C>G NP_000170.1:p.Leu747Val NC_000002.12:47800221:C:G p.(Leu747Val) NC_000002.12:47800221:C:G p.(Leu747Val) NC_000002.12:47800221:C:G Identity +NM_001410739.1:c.3747G>T NP_001397668.1:p.Lys1249Asn NC_000002.12:27453637:C:A p.(Lys1249Asn) NC_000002.12:27453637:C:A p.(Lys1249Asn) NC_000002.12:27453637:C:A Identity +NM_005445.4:c.624A>C NP_005436.1:p.Glu208Asp NC_000010.11:110581998:A:C p.(Glu208Asp) NC_000010.11:110581998:A:C p.(Glu208Asp) NC_000010.11:110581998:A:C Identity +NM_015384.5:c.169A>G NP_056199.2:p.Arg57Gly NC_000005.10:36955575:A:G p.(Arg57Gly) NC_000005.10:36955575:A:G p.(Arg57Gly) NC_000005.10:36955575:A:G Identity +NM_016216.4:c.1623_1625del NP_057300.2:p.Asp542del NC_000003.12:138161898:TCGTC:TC p.(Asp542del) NC_000003.12:138161898:TCGTC:TC p.(Asp542del) NC_000003.12:138161898:TCG: Identity +NM_000069.3:c.3140T>A NP_000060.2:p.Ile1047Asn NC_000001.11:201061381:A:T p.(Ile1047Asn) NC_000001.11:201061381:A:T p.(Ile1047Asn) NC_000001.11:201061381:A:T Identity +NM_030665.4:c.2083G>A NP_109590.3:p.Ala695Thr NC_000017.11:17795030:G:A p.(Ala695Thr) NC_000017.11:17795030:G:A p.(Ala695Thr) NC_000017.11:17795030:G:A Identity +NM_002292.4:c.4982G>A NP_002283.3:p.Arg1661Gln NC_000003.12:49121801:C:T p.(Arg1661Gln) NC_000003.12:49121801:C:T p.(Arg1661Gln) NC_000003.12:49121801:C:T Identity +NM_001195677.2:c.149G>T NP_001182606.1:p.Arg50Leu NC_000020.11:58418300:G:T p.(Arg50Leu) NC_000020.11:58418300:G:T p.(Arg50Leu) NC_000020.11:58418300:G:T Identity +NM_000501.4:c.1303G>A NP_000492.2:p.Val435Ile NC_000007.14:74056422:G:A p.(Val435Ile) NC_000007.14:74056422:G:A p.(Val435Ile) NC_000007.14:74056422:G:A Identity +NM_001278237.2:c.53A>G NP_001265166.1:p.Glu18Gly NC_000012.12:63805322:A:G p.(Glu18Gly) NC_000012.12:63805322:A:G p.(Glu18Gly) NC_000012.12:63805322:A:G Identity +NM_007055.4:c.1163A>G NP_008986.2:p.Lys388Arg NC_000010.11:78021567:T:C p.(Lys388Arg) NC_000010.11:78021567:T:C p.(Lys388Arg) NC_000010.11:78021567:T:C Identity +NM_001166136.2:c.500C>T NP_001159608.1:p.Thr167Met NC_000004.12:5685445:G:A p.(Thr167Met) NC_000004.12:5685445:G:A p.(Thr167Met) NC_000004.12:5685445:G:A Identity +NM_001252678.2:c.710G>T NP_001239607.1:p.Ser237Ile NC_000015.10:72735943:G:T p.(Ser237Ile) NC_000015.10:72735943:G:T p.(Ser237Ile) NC_000015.10:72735943:G:T Identity +NM_017934.7:c.2467G>A NP_060404.4:p.Glu823Lys NC_000006.12:78985421:C:T p.(Glu823Lys) NC_000006.12:78985421:C:T p.(Glu823Lys) NC_000006.12:78985421:C:T Identity +NM_005094.4:c.1430T>A NP_005085.2:p.Val477Asp NC_000009.12:128355157:T:A p.(Val477Asp) NC_000009.12:128355157:T:A p.(Val477Asp) NC_000009.12:128355157:T:A Identity +NM_001199917.2:c.647C>G NP_001186846.1:p.Ser216Cys NC_000006.12:83182872:G:C p.(Ser216Cys) NC_000006.12:83182872:G:C p.(Ser216Cys) NC_000006.12:83182872:G:C Identity +NM_001312673.2:c.996dup NP_001299602.1:p.Ser333fs NC_000003.12:196238795:GGGGG:GGGGGG p.(Ser333LeufsTer28) NC_000003.12:196238795:GGGGG:GGGGGG p.(Ser333LeufsTer28) ERR:SPDI Analogous +NM_001294332.2:c.286A>G NP_001281261.1:p.Thr96Ala NC_000005.10:224494:A:G p.(Thr96Ala) NC_000005.10:224494:A:G p.(Thr96Ala) NC_000005.10:224494:A:G Identity +NM_001367624.2:c.766G>A NP_001354553.1:p.Glu256Lys NC_000016.10:88428235:G:A p.(Glu256Lys) NC_000016.10:88428235:G:A p.(Glu256Lys) NC_000016.10:88428235:G:A Identity +NM_001164271.2:c.2992G>A NP_001157743.1:p.Val998Ile NC_000008.11:13085872:C:T p.(Val998Ile) NC_000008.11:13085872:C:T p.(Val998Ile) NC_000008.11:13085872:C:T Identity +NM_001283009.2:c.271A>G NP_001269938.1:p.Asn91Asp NC_000020.11:63661465:A:G p.(Asn91Asp) NC_000020.11:63661465:A:G p.(Asn91Asp) NC_000020.11:63661465:A:G Identity +NM_000328.3:c.1099C>T NP_000319.1:p.Pro367Ser NC_000023.11:38299101:G:A p.(Pro367Ser) NC_000023.11:38299101:G:A p.(Pro367Ser) NC_000023.11:38299101:G:A Identity +NM_000492.4:c.4142A>T NP_000483.3:p.Tyr1381Phe NC_000007.14:117665463:A:T p.(Tyr1381Phe) NC_000007.14:117665463:A:T p.(Tyr1381Phe) NC_000007.14:117665463:A:T Identity +NM_015243.3:c.988G>A NP_056058.2:p.Gly330Ser NC_000008.11:99121226:G:A p.(Gly330Ser) NC_000008.11:99121226:G:A p.(Gly330Ser) NC_000008.11:99121226:G:A Identity +NM_000489.6:c.3467C>T NP_000480.3:p.Ser1156Phe NC_000023.11:77681788:G:A p.(Ser1156Phe) NC_000023.11:77681788:G:A p.(Ser1156Phe) NC_000023.11:77681788:G:A Identity +NM_015378.4:c.10418A>G NP_056193.2:p.Asn3473Ser NC_000001.11:12363216:A:G p.(Asn3473Ser) NC_000001.11:12363216:A:G p.(Asn3473Ser) NC_000001.11:12363216:A:G Identity +NM_001243251.2:c.556C>G NP_001230180.1:p.His186Asp NC_000011.10:78443685:G:C p.(His186Asp) NC_000011.10:78443685:G:C p.(His186Asp) NC_000011.10:78443685:G:C Identity +NM_001286457.2:c.1379A>G NP_001273386.2:p.Lys460Arg NC_000016.10:8906426:T:C p.(Lys460Arg) NC_000016.10:8906426:T:C p.(Lys460Arg) NC_000016.10:8906426:T:C Identity +NM_001169109.2:c.611G>A NP_001162580.1:p.Ser204Asn NC_000022.11:50523800:C:T p.(Ser204Asn) NC_000022.11:50523800:C:T p.(Ser204Asn) NC_000022.11:50523800:C:T Identity +NM_024408.4:c.4283A>G NP_077719.2:p.Gln1428Arg NC_000001.11:119925532:T:C p.(Gln1428Arg) NC_000001.11:119925532:T:C p.(Gln1428Arg) NC_000001.11:119925532:T:C Identity +NM_000179.3:c.2255G>C NP_000170.1:p.Gly752Ala NC_000002.12:47800237:G:C p.(Gly752Ala) NC_000002.12:47800237:G:C p.(Gly752Ala) NC_000002.12:47800237:G:C Identity +NM_032520.5:c.343A>C NP_115909.1:p.Asn115His NC_000016.10:1362062:A:C p.(Asn115His) NC_000016.10:1362062:A:C p.(Asn115His) NC_000016.10:1362062:A:C Identity +NM_014639.4:c.3268A>T NP_055454.1:p.Ile1090Phe NC_000005.10:95502952:T:A p.(Ile1090Phe) NC_000005.10:95502952:T:A p.(Ile1090Phe) NC_000005.10:95502952:T:A Identity +NM_001378477.3:c.346G>A NP_001365406.2:p.Gly116Ser NC_000023.11:41473813:G:A p.(Gly116Ser) NC_000023.11:41473813:G:A p.(Gly116Ser) NC_000023.11:41473813:G:A Identity +NM_015335.5:c.2648A>G NP_056150.1:p.Tyr883Cys NC_000012.12:115997151:T:C p.(Tyr883Cys) NC_000012.12:115997151:T:C p.(Tyr883Cys) NC_000012.12:115997151:T:C Identity +NM_003482.4:c.1376C>T NP_003473.3:p.Ser459Phe NC_000012.12:49052306:G:A p.(Ser459Phe) NC_000012.12:49052306:G:A p.(Ser459Phe) NC_000012.12:49052306:G:A Identity +NM_020822.3:c.250G>A NP_065873.2:p.Asp84Asn NC_000009.12:135714715:G:A p.(Asp84Asn) NC_000009.12:135714715:G:A p.(Asp84Asn) NC_000009.12:135714715:G:A Identity +NM_001271620.2:c.2704C>A NP_001258549.1:p.Pro902Thr NC_000016.10:49636267:G:T p.(Pro902Thr) NC_000016.10:49636267:G:T p.(Pro902Thr) NC_000016.10:49636267:G:T Identity +NM_001164507.2:c.7930C>T NP_001157979.2:p.Arg2644Trp NC_000002.12:151643843:G:A p.(Arg2644Trp) NC_000002.12:151643843:G:A p.(Arg2644Trp) NC_000002.12:151643843:G:A Identity +NM_032790.4:c.94C>A NP_116179.2:p.Arg32Ser NC_000012.12:121626835:C:A p.(Arg32Ser) NW_018654719.1:32611:C:A p.(Arg32Ser) NC_000012.12:32611:C:A Identity +NM_001079812.3:c.1819C>T NP_001073280.1:p.Pro607Ser NC_000005.10:141574003:G:A p.(Pro607Ser) NC_000005.10:141574003:G:A p.(Pro607Ser) NC_000005.10:141574003:G:A Identity +NM_000278.5:c.656G>C NP_000269.3:p.Ser219Thr NC_000010.11:100806468:G:C p.(Ser219Thr) NC_000010.11:100806468:G:C p.(Ser219Thr) NC_000010.11:100806468:G:C Identity +NM_001257970.1:c.1438A>G NP_001244899.1:p.Ser480Gly NC_000017.11:80195271:A:G p.(Ser480Gly) NC_000017.11:80195271:A:G p.(Ser480Gly) NC_000017.11:80195271:A:G Identity +NM_206933.4:c.10061T>A NP_996816.3:p.Val3354Glu NC_000001.11:215790179:A:T p.(Val3354Glu) NC_000001.11:215790179:A:T p.(Val3354Glu) NC_000001.11:215790179:A:T Identity +NM_198334.3:c.40T>C NP_938148.1:p.Ser14Pro NC_000011.10:62639729:A:G p.(Ser14Pro) NC_000011.10:62639729:A:G p.(Ser14Pro) NC_000011.10:62639729:A:G Identity +NM_001363147.1:c.560A>G NP_001350076.1:p.Asp187Gly NC_000005.10:71604403:A:G p.(Asp187Gly) NC_000005.10:71604403:A:G p.(Asp187Gly) NC_000005.10:71604403:A:G Identity +NM_000419.5:c.1585A>C NP_000410.2:p.Ile529Leu NC_000017.11:44380260:T:G p.(Ile529Leu) NC_000017.11:44380260:T:G p.(Ile529Leu) NC_000017.11:44380260:T:G Identity +NM_000214.3:c.1764dup NP_000205.1:p.Glu589Ter NC_000020.11:10647059:A:AA p.(Glu589Ter) NC_000020.11:10647059:A:AA p.(Glu589Ter) ERR:SPDI Identity +NM_024753.5:c.2686G>T NP_079029.3:p.Ala896Ser NC_000002.12:165901792:C:A p.(Ala896Ser) NC_000002.12:165901792:C:A p.(Ala896Ser) NC_000002.12:165901792:C:A Identity +NM_001330192.2:c.337C>T NP_001317121.1:p.Arg113Cys NC_000012.12:68692087:C:T p.(Arg113Cys) NC_000012.12:68692087:C:T p.(Arg113Cys) NC_000012.12:68692087:C:T Identity +NM_020699.4:c.860C>G NP_065750.1:p.Thr287Ser NC_000001.11:153817411:G:C p.(Thr287Ser) NC_000001.11:153817411:G:C p.(Thr287Ser) NC_000001.11:153817411:G:C Identity +NM_001330609.2:c.719A>G NP_001317538.1:p.Asn240Ser NC_000008.11:125067706:T:C p.(Asn240Ser) NC_000008.11:125067706:T:C p.(Asn240Ser) NC_000008.11:125067706:T:C Identity +NM_001130965.3:c.652C>A NP_001124437.1:p.Gln218Lys NC_000007.14:843513:C:A p.(Gln218Lys) NC_000007.14:843513:C:A p.(Gln218Lys) NC_000007.14:843513:C:A Identity +NM_130466.4:c.821G>A NP_569733.2:p.Arg274His NC_000012.12:109498233:G:A p.(Arg274His) NC_000012.12:109498233:G:A p.(Arg274His) NC_000012.12:109498233:G:A Identity +NM_030665.4:c.5353T>G NP_109590.3:p.Cys1785Gly NC_000017.11:17798300:T:G p.(Cys1785Gly) NC_000017.11:17798300:T:G p.(Cys1785Gly) NC_000017.11:17798300:T:G Identity +NM_001324191.2:c.446G>A NP_001311120.1:p.Arg149His NC_000020.11:3912540:G:A p.(Arg149His) NC_000020.11:3912540:G:A p.(Arg149His) NC_000020.11:3912540:G:A Identity +NM_001244580.2:c.6901G>A NP_001231509.1:p.Val2301Ile NC_000007.14:98964720:G:A p.(Val2301Ile) NC_000007.14:98964720:G:A p.(Val2301Ile) NC_000007.14:98964720:G:A Identity +NM_001168249.1:c.3722G>T NP_001161721.1:p.Gly1241Val NC_000001.11:102912174:C:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001130991.3:c.2443C>T NP_001124463.1:p.Arg815Cys NC_000011.10:119048013:G:A p.(Arg815Cys) NC_000011.10:119048013:G:A p.(Arg815Cys) NC_000011.10:119048013:G:A Identity +NM_000319.5:c.822T>A NP_000310.2:p.Phe274Leu NC_000012.12:7202679:T:A p.(Phe274Leu) NC_000012.12:7202679:T:A p.(Phe274Leu) NC_000012.12:7202679:T:A Identity +NM_001348181.2:c.2840G>A NP_001335110.1:p.Arg947Gln NC_000002.12:24257893:C:T p.(Arg947Gln) NC_000002.12:24257893:C:T p.(Arg947Gln) NC_000002.12:24257893:C:T Identity +NM_001002841.2:c.532C>T NP_001002841.1:p.Gln178Ter NC_000017.11:47222423:C:T p.(Gln178Ter) NC_000017.11:47222423:C:T p.(Gln178Ter) NC_000017.11:47222423:C:T Identity +NM_001042749.2:c.2132G>A NP_001036214.1:p.Cys711Tyr NC_000023.11:124066209:G:A p.(Cys711Tyr) NC_000023.11:124066209:G:A p.(Cys711Tyr) NC_000023.11:124066209:G:A Identity +NM_001127660.2:c.592A>C NP_001121132.1:p.Met198Leu NC_000001.11:11997413:A:C p.(Met198Leu) NC_000001.11:11997413:A:C p.(Met198Leu) NC_000001.11:11997413:A:C Identity +NM_001453.3:c.995T>C NP_001444.2:p.Leu332Pro NC_000006.12:1611439:T:C p.(Leu332Pro) NC_000006.12:1611439:T:C p.(Leu332Pro) NC_000006.12:1611439:T:C Identity +NM_017890.5:c.10516T>C NP_060360.3:p.Cys3506Arg NC_000008.11:99853829:T:C p.(Cys3506Arg) NC_000008.11:99853829:T:C p.(Cys3506Arg) NC_000008.11:99853829:T:C Identity +NM_001136493.3:c.308G>A NP_001129965.1:p.Arg103Gln NC_000001.11:39958740:G:A p.(Arg103Gln) NC_000001.11:39958740:G:A p.(Arg103Gln) NC_000001.11:39958740:G:A Identity +NM_021076.4:c.2161A>G NP_066554.2:p.Lys721Glu NC_000022.11:29489800:A:G p.(Lys721Glu) NC_000022.11:29489800:A:G p.(Lys721Glu) NC_000022.11:29489800:A:G Identity +NM_002437.5:c.160A>G NP_002428.1:p.Met54Val NC_000002.12:27313019:T:C p.(Met54Val) NC_000002.12:27313019:T:C p.(Met54Val) NC_000002.12:27313019:T:C Identity +NM_001172631.3:c.3061G>A NP_001166102.1:p.Asp1021Asn NC_000014.9:102445932:G:A p.(Asp1021Asn) NC_000014.9:102445932:G:A p.(Asp1021Asn) NC_000014.9:102445932:G:A Identity +NM_012414.4:c.1306G>A NP_036546.2:p.Val436Ile NC_000001.11:220191248:C:T p.(Val436Ile) NC_000001.11:220191248:C:T p.(Val436Ile) NC_000001.11:220191248:C:T Identity +NM_001291593.2:c.1969G>C NP_001278522.1:p.Val657Leu NC_000001.11:5867079:C:G p.(Val657Leu) NC_000001.11:5867079:C:G p.(Val657Leu) NC_000001.11:5867079:C:G Identity +NM_000553.6:c.245A>T NP_000544.2:p.Asp82Val NC_000008.11:31064323:A:T p.(Asp82Val) NC_000008.11:31064323:A:T p.(Asp82Val) NC_000008.11:31064323:A:T Identity +NM_001039675.2:c.146G>A NP_001034764.1:p.Arg49Gln NC_000015.10:90935682:G:A p.(Arg49Gln) NC_000015.10:90935682:G:A p.(Arg49Gln) NC_000015.10:90935682:G:A Identity +NM_001278055.2:c.8134C>G NP_001264984.1:p.His2712Asp NC_000013.11:23335300:G:C p.(His2712Asp) NC_000013.11:23335300:G:C p.(His2712Asp) NC_000013.11:23335300:G:C Identity +NM_001280787.1:c.431C>G NP_001267716.1:p.Thr144Arg NC_000009.12:133352135:G:C p.(Thr144Arg) NC_000009.12:133352135:G:C p.(Thr144Arg) NC_000009.12:133352135:G:C Identity +NM_000118.4:c.437delT NP_000109.1:p.Ile146Thrfs NC_000009.12:127826595:A: p.(Ile146ThrfsTer17) NC_000009.12:127826595:A: p.(Ile146ThrfsTer17) NC_000009.12:127826595:A: Analogous +NM_001378923.1:c.2309G>A NP_001365852.1:p.Arg770Gln NC_000009.12:35806160:G:A p.(Arg770Gln) NC_000009.12:35806160:G:A p.(Arg770Gln) NC_000009.12:35806160:G:A Identity +NM_001007097.3:c.91G>C NP_001007098.1:p.Ala31Pro NC_000009.12:84670838:G:C p.(Ala31Pro) NC_000009.12:84670838:G:C p.(Ala31Pro) NC_000009.12:84670838:G:C Identity +NM_145290.4:c.3481C>A NP_660333.2:p.Gln1161Lys NC_000004.12:22388189:G:T p.(Gln1161Lys) NC_000004.12:22388189:G:T p.(Gln1161Lys) NC_000004.12:22388189:G:T Identity +NM_001283009.2:c.2812C>G NP_001269938.1:p.Leu938Val NC_000020.11:63692963:C:G p.(Leu938Val) NC_000020.11:63692963:C:G p.(Leu938Val) NC_000020.11:63692963:C:G Identity +NM_001277961.3:c.1148T>C NP_001264890.1:p.Ile383Thr NC_000011.10:4082891:T:C p.(Ile383Thr) NC_000011.10:4082891:T:C p.(Ile383Thr) NC_000011.10:4082891:T:C Identity +NM_001291593.2:c.78G>T NP_001278522.1:p.Glu26Asp NC_000001.11:5905777:C:A p.(Glu26Asp) NC_000001.11:5905777:C:A p.(Glu26Asp) NC_000001.11:5905777:C:A Identity +NM_000335.5:c.3974C>A NP_000326.2:p.Ala1325Asp NC_000003.12:38560414:G:T p.(Ala1325Asp) NC_000003.12:38560414:G:T p.(Ala1325Asp) NC_000003.12:38560414:G:T Identity +NM_000093.5:c.71T>A NP_000084.3:p.Leu24Gln NC_000009.12:134642257:T:A p.(Leu24Gln) NC_000009.12:134642257:T:A p.(Leu24Gln) NC_000009.12:134642257:T:A Identity +NM_001159291.2:c.2336T>C NP_001152763.1:p.Met779Thr NC_000006.12:109445849:A:G p.(Met779Thr) NC_000006.12:109445849:A:G p.(Met779Thr) NC_000006.12:109445849:A:G Identity +NM_001378454.1:c.7547A>G NP_001365383.1:p.Asn2516Ser NC_000002.12:73455167:A:G p.(Asn2516Ser) NC_000002.12:73455167:A:G p.(Asn2516Ser) NC_000002.12:73455167:A:G Identity +NM_003824.4:c.416A>G NP_003815.1:p.Glu139Gly NC_000011.10:70206261:A:G p.(Glu139Gly) NC_000011.10:70206261:A:G p.(Glu139Gly) NC_000011.10:70206261:A:G Identity +NM_020632.3:c.1629G>A NP_065683.2:p.Met543Ile NC_000007.14:138734197:C:T p.(Met543Ile) NC_000007.14:138734197:C:T p.(Met543Ile) NC_000007.14:138734197:C:T Identity +NM_001291285.3:c.5077G>A NP_001278214.1:p.Ala1693Thr NC_000004.12:125321487:G:A p.(Ala1693Thr) NC_000004.12:125321487:G:A p.(Ala1693Thr) NC_000004.12:125321487:G:A Identity +NM_006063.3:c.558C>G NP_006054.2:p.Asp186Glu NC_000002.12:169510335:C:G p.(Asp186Glu) NC_000002.12:169510335:C:G p.(Asp186Glu) NC_000002.12:169510335:C:G Identity +NM_001447.3:c.2968G>A NP_001438.1:p.Glu990Lys NC_000005.10:151565963:C:T p.(Glu990Lys) NC_000005.10:151565963:C:T p.(Glu990Lys) NC_000005.10:151565963:C:T Identity +NM_000543.5:c.796C>G NP_000534.3:p.Leu266Val NC_000011.10:6391860:C:G p.(Leu266Val) NC_000011.10:6391860:C:G p.(Leu266Val) NC_000011.10:6391860:C:G Identity +NM_001407041.1:c.386A>G NP_001393970.1:p.Asn129Ser NC_000018.10:51048821:A:G p.(Asn129Ser) NC_000018.10:51048821:A:G p.(Asn129Ser) NC_000018.10:51048821:A:G Identity +NM_001004356.3:c.865G>A NP_001004356.1:p.Glu289Lys NC_000004.12:1024456:G:A p.(Glu289Lys) NC_000004.12:1024456:G:A p.(Glu289Lys) NC_000004.12:1024456:G:A Identity +NM_014254.3:c.368C>T NP_055069.1:p.Pro123Leu NC_000012.12:63785011:C:T p.(Pro123Leu) NC_000012.12:63785011:C:T p.(Pro123Leu) NC_000012.12:63785011:C:T Identity +NM_030773.4:c.112G>A NP_110400.1:p.Gly38Arg NC_000020.11:59022898:G:A p.(Gly38Arg) NC_000020.11:59022898:G:A p.(Gly38Arg) NC_000020.11:59022898:G:A Identity +NM_001379081.2:c.2107G>T NP_001366010.1:p.Val703Leu NC_000009.12:14824086:C:A p.(Val703Leu) NC_000009.12:14824086:C:A p.(Val703Leu) NC_000009.12:14824086:C:A Identity +LRG_292t1:c.3133A>G LRG_292p1:p.Asn1045Asp NC_000017.11:43092397:T:C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001290307.3:c.2403G>C NP_001277236.1:p.Gln801His NC_000005.10:138932681:G:C p.(Gln801His) NC_000005.10:138932681:G:C p.(Gln801His) NC_000005.10:138932681:G:C Identity +NM_004795.4:c.1807C>G NP_004786.2:p.Leu603Val NC_000013.11:33060885:C:G p.(Leu603Val) NC_000013.11:33060885:C:G p.(Leu603Val) NC_000013.11:33060885:C:G Identity +NM_000780.4:c.310A>G NP_000771.2:p.Thr104Ala NC_000008.11:58498239:T:C p.(Thr104Ala) NC_000008.11:58498239:T:C p.(Thr104Ala) NC_000008.11:58498239:T:C Identity +NM_001166226.2:c.1859G>A NP_001159698.1:p.Arg620His NC_000005.10:123382812:C:T p.(Arg620His) NC_000005.10:123382812:C:T p.(Arg620His) NC_000005.10:123382812:C:T Identity +NM_001370136.1:c.1786C>T NP_001357065.1:p.Arg596Trp NC_000010.11:74976122:C:T p.(Arg596Trp) NC_000010.11:74976122:C:T p.(Arg596Trp) NC_000010.11:74976122:C:T Identity +NM_000290.4:c.106G>A NP_000281.2:p.Glu36Lys NC_000007.14:44065423:C:T p.(Glu36Lys) NC_000007.14:44065423:C:T p.(Glu36Lys) NC_000007.14:44065423:C:T Identity +NM_001083885.3:c.1433G>A NP_001077354.2:p.Gly478Asp NC_000009.12:114402895:C:T p.(Gly478Asp) NC_000009.12:114402895:C:T p.(Gly478Asp) NC_000009.12:114402895:C:T Identity +NM_000285.4:c.1366G>A NP_000276.2:p.Val456Met NC_000019.10:33387459:C:T p.(Val456Met) NC_000019.10:33387459:C:T p.(Val456Met) NC_000019.10:33387459:C:T Identity +NM_032656.4:c.1277C>T NP_116045.2:p.Pro426Leu NC_000012.12:124968882:G:A p.(Pro426Leu) NC_000012.12:124968882:G:A p.(Pro426Leu) NC_000012.12:124968882:G:A Identity +NM_000368.5:c.3173del NP_000359.1:p.Pro1058fs NC_000009.12:132896556:GGG:GG p.(Pro1058HisfsTer33) NC_000009.12:132896556:GGG:GG p.(Pro1058HisfsTer33) NC_000009.12:132896556:G: Analogous +NM_000245.4:c.3929A>G NP_000236.2:p.Asp1310Gly NC_000007.14:116795784:A:G p.(Asp1310Gly) NC_000007.14:116795784:A:G p.(Asp1310Gly) NC_000007.14:116795784:A:G Identity +NM_001302946.2:c.1200C>A NP_001289875.2:p.Tyr400Ter NC_000003.12:3148108:C:A p.(Tyr400Ter) NC_000003.12:3148108:C:A p.(Tyr400Ter) NC_000003.12:3148108:C:A Identity +NM_000113.3:c.246_247del NP_000104.1:p.Phe84fs NC_000009.12:129822777:CG: p.(Phe84TrpfsTer43) NC_000009.12:129822777:CG: p.(Phe84TrpfsTer43) NC_000009.12:129822777:CG: Analogous +NM_000492.4:c.1846A>G NP_000483.3:p.Ile616Val NC_000007.14:117592012:A:G p.(Ile616Val) NC_000007.14:117592012:A:G p.(Ile616Val) NC_000007.14:117592012:A:G Identity +NM_004530.6:c.124G>T NP_004521.1:p.Ala42Ser NC_000016.10:55479602:G:T p.(Ala42Ser) NC_000016.10:55479602:G:T p.(Ala42Ser) NC_000016.10:55479602:G:T Identity +NM_001256850.1:c.99089T>G NP_001243779.1:p.Leu33030Ter NC_000002.12:178532602:A:C p.(Leu33030Ter) NC_000002.12:178532602:A:C p.(Leu33030Ter) NC_000002.12:178532602:A:C Identity +NM_001168370.2:c.2123C>G NP_001161842.2:p.Pro708Arg NC_000006.12:43048367:G:C p.(Pro708Arg) NC_000006.12:43048367:G:C p.(Pro708Arg) NC_000006.12:43048367:G:C Identity +NM_012293.3:c.632C>T NP_036425.1:p.Ala211Val NC_000002.12:1680290:G:A p.(Ala211Val) NC_000002.12:1680290:G:A p.(Ala211Val) NC_000002.12:1680290:G:A Identity +NM_020751.3:c.1286T>C NP_065802.1:p.Val429Ala NC_000013.11:39719236:T:C p.(Val429Ala) NC_000013.11:39719236:T:C p.(Val429Ala) NC_000013.11:39719236:T:C Identity +NM_000188.3:c.2643A>T NP_000179.2:p.Glu881Asp NC_000010.11:69401023:A:T p.(Glu881Asp) NC_000010.11:69401023:A:T p.(Glu881Asp) NC_000010.11:69401023:A:T Identity +NM_005027.4:c.1034G>A NP_005018.2:p.Arg345Gln NC_000019.10:18162430:G:A p.(Arg345Gln) NC_000019.10:18162430:G:A p.(Arg345Gln) NC_000019.10:18162430:G:A Identity +NM_018714.3:c.628G>A NP_061184.1:p.Glu210Lys NC_000017.11:73196966:G:A p.(Glu210Lys) NC_000017.11:73196966:G:A p.(Glu210Lys) NC_000017.11:73196966:G:A Identity +NM_000562.3:c.1742C>G NP_000553.1:p.Thr581Arg NC_000001.11:56917702:C:G p.(Thr581Arg) NC_000001.11:56917702:C:G p.(Thr581Arg) NC_000001.11:56917702:C:G Identity +NM_014639.4:c.583A>G NP_055454.1:p.Lys195Glu NC_000005.10:95537101:T:C p.(Lys195Glu) NC_000005.10:95537101:T:C p.(Lys195Glu) NC_000005.10:95537101:T:C Identity +NM_003816.3:c.269A>G NP_003807.1:p.Glu90Gly NC_000008.11:39013978:A:G p.(Glu90Gly) NC_000008.11:39013978:A:G p.(Glu90Gly) NC_000008.11:39013978:A:G Identity +NM_001030311.3:c.617T>C NP_001025482.1:p.Met206Thr NC_000002.12:181566117:A:G p.(Met206Thr) NC_000002.12:181566117:A:G p.(Met206Thr) NC_000002.12:181566117:A:G Identity +NM_001164496.2:c.535C>T NP_001157968.1:p.Arg179Ter NC_000003.12:113420051:G:A p.(Arg179Ter) NC_000003.12:113420051:G:A p.(Arg179Ter) NC_000003.12:113420051:G:A Identity +NM_001411072.1:c.579C>T NP_001398001.1:p.Tyr193= NC_000017.11:16317858:C:T p.(Tyr193=) NC_000017.11:16317858:C:T p.(Tyr193=) NC_000017.11:16317858:C:T Identity +NM_001280787.1:c.473T>C NP_001267716.1:p.Leu158Pro NC_000009.12:133352093:A:G p.(Leu158Pro) NC_000009.12:133352093:A:G p.(Leu158Pro) NC_000009.12:133352093:A:G Identity +NM_001453.3:c.1091C>T NP_001444.2:p.Pro364Leu NC_000006.12:1611535:C:T p.(Pro364Leu) NC_000006.12:1611535:C:T p.(Pro364Leu) NC_000006.12:1611535:C:T Identity +NM_001276479.2:c.22G>C NP_001263408.1:p.Val8Leu NC_000019.10:5720110:C:G p.(Val8Leu) NC_000019.10:5720110:C:G p.(Val8Leu) NC_000019.10:5720110:C:G Identity +NM_000341.4:c.686G>A NP_000332.2:p.Arg229Gln NC_000002.12:44281461:G:A p.(Arg229Gln) NC_000002.12:44281461:G:A p.(Arg229Gln) NC_000002.12:44281461:G:A Identity +NM_003701.4:c.894A>C NP_003692.1:p.Leu298Phe NC_000013.11:42606857:A:C p.(Leu298Phe) NC_000013.11:42606857:A:C p.(Leu298Phe) NC_000013.11:42606857:A:C Identity +NM_130466.4:c.1799T>C NP_569733.2:p.Val600Ala NC_000012.12:109510400:T:C p.(Val600Ala) NC_000012.12:109510400:T:C p.(Val600Ala) NC_000012.12:109510400:T:C Identity +NM_000027.4:c.290T>C NP_000018.2:p.Met97Thr NC_000004.12:177439679:A:G p.(Met97Thr) NC_000004.12:177439679:A:G p.(Met97Thr) NC_000004.12:177439679:A:G Identity +NM_001407296.1:c.1430A>G NP_001394225.1:p.Asn477Ser NC_000016.10:23635055:T:C p.(Asn477Ser) NC_000016.10:23635055:T:C p.(Asn477Ser) NC_000016.10:23635055:T:C Identity +NM_001143838.3:c.98C>A NP_001137310.1:p.Ala33Asp NC_000017.11:6713235:G:T p.(Ala33Asp) NC_000017.11:6713235:G:T p.(Ala33Asp) NC_000017.11:6713235:G:T Identity +NM_000046.5:c.34G>C NP_000037.2:p.Gly12Arg NC_000005.10:78985214:C:G p.(Gly12Arg) NC_000005.10:78985214:C:G p.(Gly12Arg) NC_000005.10:78985214:C:G Identity +NM_015346.4:c.1231G>A NP_056161.2:p.Ala411Thr NC_000014.9:67805256:C:T p.(Ala411Thr) NC_000014.9:67805256:C:T p.(Ala411Thr) NC_000014.9:67805256:C:T Identity +NM_001160302.2:c.3436A>G NP_001153774.1:p.Lys1146Glu NC_000021.9:32642127:T:C p.(Lys1146Glu) NC_000021.9:32642127:T:C p.(Lys1146Glu) NC_000021.9:32642127:T:C Identity +NM_001411067.1:c.1064T>C NP_001397996.1:p.Leu355Pro NC_000017.11:8236070:A:G p.(Leu355Pro) NC_000017.11:8236070:A:G p.(Leu355Pro) NC_000017.11:8236070:A:G Identity +NM_018848.3:c.432dup NP_061336.1:p.Ser145Ter NC_000020.11:10413082:AAA:AAAA p.(Ser145Ter) NC_000020.11:10413082:AAA:AAAA p.(Ser145Ter) ERR:SPDI Identity +NM_001014797.3:c.507G>T NP_001014797.1:p.Met169Ile NC_000010.11:77403894:C:A p.(Met169Ile) NC_000010.11:77403894:C:A p.(Met169Ile) NC_000010.11:77403894:C:A Identity +NM_139318.5:c.2866C>A NP_647479.2:p.Gln956Lys NC_000014.9:62707608:G:T p.(Gln956Lys) NC_000014.9:62707608:G:T p.(Gln956Lys) NC_000014.9:62707608:G:T Identity +NM_016247.4:c.3298G>T NP_057331.2:p.Val1100Leu NC_000003.12:101231080:C:A p.(Val1100Leu) NC_000003.12:101231080:C:A p.(Val1100Leu) NC_000003.12:101231080:C:A Identity +NM_001164665.2:c.4058T>C NP_001158137.1:p.Phe1353Ser NC_000007.14:138881558:A:G p.(Phe1353Ser) NC_000007.14:138881558:A:G p.(Phe1353Ser) NC_000007.14:138881558:A:G Identity +NM_002439.5:c.2813G>C NP_002430.3:p.Arg938Thr NC_000005.10:80813740:G:C p.(Arg938Thr) NC_000005.10:80813740:G:C p.(Arg938Thr) NC_000005.10:80813740:G:C Identity +NM_001145527.2:c.196C>G NP_001138999.1:p.His66Asp NC_000009.12:137716735:C:G p.(His66Asp) NC_000009.12:137716735:C:G p.(His66Asp) NC_000009.12:137716735:C:G Identity +NM_001367830.1:c.451C>T NP_001354759.1:p.Arg151Cys NC_000019.10:11252174:G:A p.(Arg151Cys) NC_000019.10:11252174:G:A p.(Arg151Cys) NC_000019.10:11252174:G:A Identity +NM_001317924.2:c.662C>G NP_001304853.1:p.Pro221Arg NC_000004.12:39216102:C:G p.(Pro221Arg) NC_000004.12:39216102:C:G p.(Pro221Arg) NC_000004.12:39216102:C:G Identity +NM_001278055.2:c.12875A>G NP_001264984.1:p.Lys4292Arg NC_000013.11:23330559:T:C p.(Lys4292Arg) NC_000013.11:23330559:T:C p.(Lys4292Arg) NC_000013.11:23330559:T:C Identity +NM_000444.6:c.1142_1143del NP_000435.3:p.Arg381fs NC_000023.11:22111526:GCGC:GC p.(Arg381LeufsTer4) NC_000023.11:22111526:GCGC:GC p.(Arg381LeufsTer4) NC_000023.11:22111528:GC: Analogous +NM_001164097.2:c.4603G>C NP_001157569.1:p.Asp1535His NC_000005.10:83540566:G:C p.(Asp1535His) NC_000005.10:83540566:G:C p.(Asp1535His) NC_000005.10:83540566:G:C Identity +NM_001198798.2:c.904G>A NP_001185727.1:p.Gly302Ser NC_000010.11:72128134:C:T p.(Gly302Ser) NC_000010.11:72128134:C:T p.(Gly302Ser) NC_000010.11:72128134:C:T Identity +NM_001193306.2:c.245T>C NP_001180235.1:p.Met82Thr NC_000019.10:51746749:A:G p.(Met82Thr) NC_000019.10:51746749:A:G p.(Met82Thr) NC_000019.10:51746749:A:G Identity +NM_001099274.3:c.630C>G NP_001092744.1:p.Asn210Lys NC_000014.9:24240849:G:C p.(Asn210Lys) NC_000014.9:24240849:G:C p.(Asn210Lys) NC_000014.9:24240849:G:C Identity +NM_001001329.3:c.1009G>A NP_001001329.1:p.Val337Met NC_000019.10:11447597:G:A p.(Val337Met) NC_000019.10:11447597:G:A p.(Val337Met) NC_000019.10:11447597:G:A Identity +NM_001330609.2:c.296G>A NP_001317538.1:p.Arg99His NC_000008.11:125076471:C:T p.(Arg99His) NC_000008.11:125076471:C:T p.(Arg99His) NC_000008.11:125076471:C:T Identity +NM_001321729.2:c.1750C>T NP_001308658.1:p.Leu584Phe NC_000002.12:72480665:G:A p.(Leu584Phe) NC_000002.12:72480665:G:A p.(Leu584Phe) NC_000002.12:72480665:G:A Identity +NM_015909.4:c.4840A>G NP_056993.2:p.Thr1614Ala NC_000002.12:15292723:T:C p.(Thr1614Ala) NC_000002.12:15292723:T:C p.(Thr1614Ala) NC_000002.12:15292723:T:C Identity +NM_001385197.1:c.2981G>A NP_001372126.1:p.Ser994Asn NC_000019.10:10353573:C:T p.(Ser994Asn) NC_000019.10:10353573:C:T p.(Ser994Asn) NC_000019.10:10353573:C:T Identity +NM_022168.4:c.2623G>A NP_071451.2:p.Glu875Lys NC_000002.12:162268270:C:T p.(Glu875Lys) NC_000002.12:162268270:C:T p.(Glu875Lys) NC_000002.12:162268270:C:T Identity +NM_005546.4:c.1529A>T NP_005537.3:p.Asp510Val NC_000005.10:157245894:A:T p.(Asp510Val) NC_000005.10:157245894:A:T p.(Asp510Val) NC_000005.10:157245894:A:T Identity +NM_000038.6:c.5063A>G NP_000029.2:p.Asp1688Gly NC_000005.10:112840656:A:G p.(Asp1688Gly) NC_000005.10:112840656:A:G p.(Asp1688Gly) NC_000005.10:112840656:A:G Identity +NM_000077.5:c.226G>T NP_000068.1:p.Ala76Ser NC_000009.12:21971132:C:A p.(Ala76Ser) NC_000009.12:21971132:C:A p.(Ala76Ser) NC_000009.12:21971132:C:A Identity +NM_001352773.2:c.1914C>G NP_001339702.1:p.Asn638Lys NC_000017.11:41757643:G:C p.(Asn638Lys) NC_000017.11:41757643:G:C p.(Asn638Lys) NC_000017.11:41757643:G:C Identity +NM_001190879.3:c.1240G>C NP_001177808.1:p.Ala414Pro NC_000002.12:147935580:C:G p.(Ala414Pro) NC_000002.12:147935580:C:G p.(Ala414Pro) NC_000002.12:147935580:C:G Identity +NM_001294332.2:c.200T>C NP_001281261.1:p.Val67Ala NC_000005.10:224408:T:C p.(Val67Ala) NC_000005.10:224408:T:C p.(Val67Ala) NC_000005.10:224408:T:C Identity +NM_025179.4:c.2317G>A NP_079455.3:p.Asp773Asn NC_000001.11:208082489:C:T p.(Asp773Asn) NC_000001.11:208082489:C:T p.(Asp773Asn) NC_000001.11:208082489:C:T Identity +NM_001184976.2:c.82C>T NP_001171905.1:p.His28Tyr NC_000012.12:54500550:C:T p.(His28Tyr) NC_000012.12:54500550:C:T p.(His28Tyr) NC_000012.12:54500550:C:T Identity +NM_024753.5:c.40T>C NP_079029.3:p.Cys14Arg NC_000002.12:165949705:A:G p.(Cys14Arg) NC_000002.12:165949705:A:G p.(Cys14Arg) NC_000002.12:165949705:A:G Identity +NM_002389.4:c.167T>C NP_002380.3:p.Ile56Thr NC_000001.11:207757082:T:C p.(Ile56Thr) NC_000001.11:207757082:T:C p.(Ile56Thr) NC_000001.11:207757082:T:C Identity +NM_017807.4:c.149G>A NP_060277.1:p.Arg50Gln NC_000014.9:20452414:C:T p.(Arg50Gln) NC_000014.9:20452414:C:T p.(Arg50Gln) NC_000014.9:20452414:C:T Identity +NM_032119.4:c.14918_14919dup NP_115495.3:p.Val4974fs NC_000005.10:90807681:TTT:TTTTT p.(Val4974LeufsTer43) NC_000005.10:90807681:TTT:TTTTT p.(Val4974LeufsTer43) ERR:SPDI Analogous +NM_000124.4:c.184_185del NP_000115.1:p.Ala62fs NC_000010.11:49532779:GCGC:GC p.(Ala62IlefsTer24) NC_000010.11:49532779:GCGC:GC p.(Ala62IlefsTer24) NC_000010.11:49532779:GC: Analogous +NM_000057.4:c.1505G>A NP_000048.1:p.Ser502Asn NC_000015.10:90760877:G:A p.(Ser502Asn) NC_000015.10:90760877:G:A p.(Ser502Asn) NC_000015.10:90760877:G:A Identity +NM_001128128.3:c.2620A>C NP_001121600.1:p.Thr874Pro NC_000010.11:31523998:A:C p.(Thr874Pro) NC_000010.11:31523998:A:C p.(Thr874Pro) NC_000010.11:31523998:A:C Identity +NM_001277126.2:c.1258G>A NP_001264055.1:p.Gly420Ser NC_000019.10:53810400:C:T p.(Gly420Ser) NC_000019.10:53810400:C:T p.(Gly420Ser) NC_000019.10:53810400:C:T Identity +NM_001321851.1:c.2122A>G NP_001308780.1:p.Thr708Ala NC_000014.9:92005850:T:C p.(Thr708Ala) NC_000014.9:92005850:T:C p.(Thr708Ala) NC_000014.9:92005850:T:C Identity +NM_001271052.1:c.1950G>A NP_001257981.1:p.Trp650Ter NC_000019.10:14746290:C:T p.(Trp650Ter) NC_000019.10:14746290:C:T p.(Trp650Ter) NC_000019.10:14746290:C:T Identity +NM_000098.3:c.1251C>G NP_000089.1:p.Phe417Leu NC_000001.11:53210924:C:G p.(Phe417Leu) NC_000001.11:53210924:C:G p.(Phe417Leu) NC_000001.11:53210924:C:G Identity +NM_000091.5:c.3515C>T NP_000082.2:p.Thr1172Met NC_000002.12:227295059:C:T p.(Thr1172Met) NC_000002.12:227295059:C:T p.(Thr1172Met) NC_000002.12:227295059:C:T Identity +NM_002772.3:c.3034G>A NP_002763.3:p.Glu1012Lys NC_000021.9:18269994:C:T p.(Glu1012Lys) NC_000021.9:18269994:C:T p.(Glu1012Lys) NC_000021.9:18269994:C:T Identity +NM_001113378.2:c.3887T>C NP_001106849.1:p.Met1296Thr NC_000015.10:89315351:T:C p.(Met1296Thr) NC_000015.10:89315351:T:C p.(Met1296Thr) NC_000015.10:89315351:T:C Identity +NM_032119.4:c.17345A>T NP_115495.3:p.Asp5782Val NC_000005.10:90853423:A:T p.(Asp5782Val) NC_000005.10:90853423:A:T p.(Asp5782Val) NC_000005.10:90853423:A:T Identity +NM_000070.3:c.1775G>A NP_000061.1:p.Arg592Gln NC_000015.10:42403769:G:A p.(Arg592Gln) NC_000015.10:42403769:G:A p.(Arg592Gln) NC_000015.10:42403769:G:A Identity +NM_000180.4:c.781_782insT NP_000171.1:p.Glu261fs NC_000017.11:8003911::T p.(Glu261ValfsTer58) NC_000017.11:8003910:G:T p.(Glu261ValfsTer58) NC_000017.11:8003911:GA:T Analogous +NM_021154.5:c.82_83del NP_066977.1:p.Glu28fs NC_000009.12:78300622:GA: p.(Glu28IlefsTer10) NC_000009.12:78300622:GA: p.(Glu28IlefsTer10) NC_000009.12:78300622:GA: Analogous +NM_000069.3:c.754C>T NP_000060.2:p.Arg252Cys NC_000001.11:201089403:G:A p.(Arg252Cys) NC_000001.11:201089403:G:A p.(Arg252Cys) NC_000001.11:201089403:G:A Identity +NM_006445.4:c.3281G>A NP_006436.3:p.Arg1094His NC_000017.11:1674459:C:T p.(Arg1094His) NC_000017.11:1674459:C:T p.(Arg1094His) NC_000017.11:1674459:C:T Identity +NM_000718.4:c.4667C>T NP_000709.1:p.Ala1556Val NC_000009.12:138059735:C:T p.(Ala1556Val) NC_000009.12:138059735:C:T p.(Ala1556Val) NC_000009.12:138059735:C:T Identity +NM_014727.3:c.5768C>T NP_055542.1:p.Pro1923Leu NC_000019.10:35732316:C:T p.(Pro1923Leu) NC_000019.10:35732316:C:T p.(Pro1923Leu) NC_000019.10:35732316:C:T Identity +NM_001001396.3:c.1748A>G NP_001001396.1:p.Asn583Ser NC_000001.11:203709490:A:G p.(Asn583Ser) NC_000001.11:203709490:A:G p.(Asn583Ser) NC_000001.11:203709490:A:G Identity +NM_176824.3:c.2057G>A NP_789794.1:p.Gly686Asp NC_000004.12:121825950:C:T p.(Gly686Asp) NC_000004.12:121825950:C:T p.(Gly686Asp) NC_000004.12:121825950:C:T Identity +NM_001127487.2:c.5117A>G NP_001120959.1:p.Tyr1706Cys NC_000007.14:128849495:A:G p.(Tyr1706Cys) NC_000007.14:128849495:A:G p.(Tyr1706Cys) NC_000007.14:128849495:A:G Identity +NM_001362884.2:c.1649A>T NP_001349813.1:p.Tyr550Phe NC_000008.11:20249863:T:A p.(Tyr550Phe) NC_000008.11:20249863:T:A p.(Tyr550Phe) NC_000008.11:20249863:T:A Identity +NM_001346083.2:c.2207G>A NP_001333012.1:p.Arg736Gln NC_000001.11:205069836:G:A p.(Arg736Gln) NC_000001.11:205069836:G:A p.(Arg736Gln) NC_000001.11:205069836:G:A Identity +NM_003737.4:c.2974G>C NP_003728.1:p.Gly992Arg NC_000011.10:6632537:C:G p.(Gly992Arg) NC_000011.10:6632537:C:G p.(Gly992Arg) NC_000011.10:6632537:C:G Identity +NM_001166226.2:c.2371C>T NP_001159698.1:p.Gln791Ter NC_000005.10:123372681:G:A p.(Gln791Ter) NC_000005.10:123372681:G:A p.(Gln791Ter) NC_000005.10:123372681:G:A Identity +NM_001006600.3:c.3310T>C NP_001006600.1:p.Tyr1104His NC_000005.10:66054627:T:C p.(Tyr1104His) NC_000005.10:66054627:T:C p.(Tyr1104His) NC_000005.10:66054627:T:C Identity +NM_001318381.2:c.143C>T NP_001305310.1:p.Thr48Ile NC_000009.12:100226218:C:T p.(Thr48Ile) NC_000009.12:100226218:C:T p.(Thr48Ile) NC_000009.12:100226218:C:T Identity +NM_020461.4:c.4915T>G NP_065194.3:p.Trp1639Gly NC_000022.11:50218526:A:C p.(Trp1639Gly) NC_000022.11:50218526:A:C p.(Trp1639Gly) NC_000022.11:50218526:A:C Identity +NM_007248.5:c.230T>C NP_009179.2:p.Leu77Pro NC_000003.12:48466914:T:C p.(Leu77Pro) NC_000003.12:48466914:T:C p.(Leu77Pro) NC_000003.12:48466914:T:C Identity +NM_001285829.2:c.421C>T NP_001272758.1:p.His141Tyr NC_000019.10:33301636:G:A p.(His141Tyr) NC_000019.10:33301636:G:A p.(His141Tyr) NC_000019.10:33301636:G:A Identity +NM_000632.4:c.2080A>T NP_000623.2:p.Thr694Ser NC_000016.10:31324475:A:T p.(Thr694Ser) NC_000016.10:31324475:A:T p.(Thr694Ser) NC_000016.10:31324475:A:T Identity +NM_005012.4:c.1791T>G NP_005003.2:p.Ile597Met NC_000001.11:64177831:T:G p.(Ile597Met) NC_000001.11:64177831:T:G p.(Ile597Met) NC_000001.11:64177831:T:G Identity +NM_032833.5:c.1717G>C NP_116222.4:p.Ala573Pro NC_000001.11:204409694:C:G p.(Ala573Pro) NC_000001.11:204409694:C:G p.(Ala573Pro) NC_000001.11:204409694:C:G Identity +NM_000350.3:c.5759A>T NP_000341.2:p.Asp1920Val NC_000001.11:94008826:T:A p.(Asp1920Val) NC_000001.11:94008826:T:A p.(Asp1920Val) NC_000001.11:94008826:T:A Identity +NM_032228.6:c.803C>G NP_115604.1:p.Ser268Cys NC_000011.10:13711961:C:G p.(Ser268Cys) NC_000011.10:13711961:C:G p.(Ser268Cys) NC_000011.10:13711961:C:G Identity +NM_001134363.3:c.929C>T NP_001127835.2:p.Pro310Leu NC_000010.11:110781537:C:T p.(Pro310Leu) NC_000010.11:110781537:C:T p.(Pro310Leu) NC_000010.11:110781537:C:T Identity +NM_001303496.3:c.537A>C NP_001290425.1:p.Glu179Asp NC_000007.14:93135434:T:G p.(Glu179Asp) NC_000007.14:93135434:T:G p.(Glu179Asp) NC_000007.14:93135434:T:G Identity +NM_001351018.2:c.76G>C NP_001337947.1:p.Val26Leu NC_000012.12:122264192:C:G p.(Val26Leu) NC_000012.12:122264192:C:G p.(Val26Leu) NC_000012.12:122264192:C:G Identity +NM_000833.5:c.2251G>A NP_000824.1:p.Gly751Arg NC_000016.10:9798381:C:T p.(Gly751Arg) NC_000016.10:9798381:C:T p.(Gly751Arg) NC_000016.10:9798381:C:T Identity +NM_001276479.2:c.1210A>G NP_001263408.1:p.Ile404Val NC_000019.10:5700892:T:C p.(Ile404Val) NC_000019.10:5700892:T:C p.(Ile404Val) NC_000019.10:5700892:T:C Identity +NM_001354263.2:c.3665C>G NP_001341192.1:p.Thr1222Ser NC_000009.12:137834493:C:G p.(Thr1222Ser) NC_000009.12:137834493:C:G p.(Thr1222Ser) NC_000009.12:137834493:C:G Identity +NM_001077525.3:c.720C>G NP_001070993.1:p.Ala240= NC_000003.12:9672726:C:G p.(Ala240=) NC_000003.12:9672726:C:G p.(Ala240=) NC_000003.12:9672726:C:G Identity +NM_001258392.3:c.547G>A NP_001245321.1:p.Val183Ile NC_000011.10:72380379:C:T p.(Val183Ile) NC_000011.10:72380379:C:T p.(Val183Ile) NC_000011.10:72380379:C:T Identity +NM_020778.5:c.3260G>A NP_065829.4:p.Gly1087Glu NC_000015.10:84857997:G:A p.(Gly1087Glu) NC_000015.10:84857997:G:A p.(Gly1087Glu) NC_000015.10:84857997:G:A Identity +NM_001291860.2:c.10975G>A NP_001278789.1:p.Val3659Met NC_000001.11:21833472:C:T p.(Val3659Met) NC_000001.11:21833472:C:T p.(Val3659Met) NC_000001.11:21833472:C:T Identity +NM_021072.4:c.214G>A NP_066550.2:p.Gly72Ser NC_000005.10:45695879:C:T p.(Gly72Ser) NC_000005.10:45695879:C:T p.(Gly72Ser) NC_000005.10:45695879:C:T Identity +NM_001128608.2:c.3478C>A NP_001122080.1:p.Pro1160Thr NC_000015.10:41823083:C:A p.(Pro1160Thr) NC_000015.10:41823083:C:A p.(Pro1160Thr) NC_000015.10:41823083:C:A Identity +NM_000195.5:c.1532G>A NP_000186.2:p.Arg511Gln NC_000010.11:98423752:C:T p.(Arg511Gln) NC_000010.11:98423752:C:T p.(Arg511Gln) NC_000010.11:98423752:C:T Identity +NM_000383.4:c.1064C>T NP_000374.1:p.Pro355Leu NC_000021.9:44292369:C:T p.(Pro355Leu) NC_000021.9:44292369:C:T p.(Pro355Leu) NC_000021.9:44292369:C:T Identity +NM_170606.3:c.6916C>T NP_733751.2:p.Pro2306Ser NC_000007.14:152180943:G:A p.(Pro2306Ser) NC_000007.14:152180943:G:A p.(Pro2306Ser) NC_000007.14:152180943:G:A Identity +NM_004995.4:c.1538G>A NP_004986.1:p.Arg513Gln NC_000014.9:22845827:G:A p.(Arg513Gln) NC_000014.9:22845827:G:A p.(Arg513Gln) NC_000014.9:22845827:G:A Identity +NM_001260474.2:c.838G>T NP_001247403.1:p.Val280Leu NC_000021.9:42853702:C:A p.(Val280Leu) NC_000021.9:42853702:C:A p.(Val280Leu) NC_000021.9:42853702:C:A Identity +NM_000807.4:c.901C>T NP_000798.2:p.Arg301Trp NC_000004.12:46262083:G:A p.(Arg301Trp) NC_000004.12:46262083:G:A p.(Arg301Trp) NC_000004.12:46262083:G:A Identity +NM_001363813.1:c.1570G>A NP_001350742.1:p.Val524Ile NC_000017.11:65537465:C:T p.(Val524Ile) NC_000017.11:65537465:C:T p.(Val524Ile) NC_000017.11:65537465:C:T Identity +NM_015180.6:c.19396C>T NP_055995.4:p.His6466Tyr NC_000014.9:64216309:C:T p.(His6466Tyr) NC_000014.9:64216309:C:T p.(His6466Tyr) NC_000014.9:64216309:C:T Identity +NM_015346.4:c.5737G>T NP_056161.2:p.Asp1913Tyr NC_000014.9:67767756:C:A p.(Asp1913Tyr) NC_000014.9:67767756:C:A p.(Asp1913Tyr) NC_000014.9:67767756:C:A Identity +NM_001142275.1:c.476T>C NP_001135747.1:p.Leu159Pro NC_000015.10:22823949:T:C p.(Leu159Pro) NC_000015.10:22823949:T:C p.(Leu159Pro) NC_000015.10:22823949:T:C Identity +NM_000528.4:c.205C>G NP_000519.2:p.Pro69Ala NC_000019.10:12665759:G:C p.(Pro69Ala) NC_000019.10:12665759:G:C p.(Pro69Ala) NC_000019.10:12665759:G:C Identity +NM_133497.4:c.946G>A NP_598004.1:p.Glu316Lys NC_000009.12:2718684:G:A p.(Glu316Lys) NC_000009.12:2718684:G:A p.(Glu316Lys) NC_000009.12:2718684:G:A Identity +NM_001312673.2:c.8C>A NP_001299602.1:p.Ala3Glu NC_000003.12:196270523:G:T p.(Ala3Glu) NC_000003.12:196270523:G:T p.(Ala3Glu) NC_000003.12:196270523:G:T Identity +NM_001160302.2:c.3449C>G NP_001153774.1:p.Thr1150Arg NC_000021.9:32642114:G:C p.(Thr1150Arg) NC_000021.9:32642114:G:C p.(Thr1150Arg) NC_000021.9:32642114:G:C Identity +NM_002470.4:c.5716G>A NP_002461.2:p.Glu1906Lys NC_000017.11:10629676:C:T p.(Glu1906Lys) NC_000017.11:10629676:C:T p.(Glu1906Lys) NC_000017.11:10629676:C:T Identity +NM_022047.4:c.503A>G NP_071330.3:p.Gln168Arg NC_000006.12:35312380:A:G p.(Gln168Arg) NC_000006.12:35312380:A:G p.(Gln168Arg) NC_000006.12:35312380:A:G Identity +NM_016941.4:c.608G>C NP_058637.1:p.Gly203Ala NC_000019.10:39503012:G:C p.(Gly203Ala) NC_000019.10:39503012:G:C p.(Gly203Ala) NC_000019.10:39503012:G:C Identity +NM_001165962.2:c.118C>G NP_001159434.1:p.Leu40Val NC_000017.11:13017829:G:C p.(Leu40Val) NC_000017.11:13017829:G:C p.(Leu40Val) NC_000017.11:13017829:G:C Identity +NM_016350.5:c.673G>A NP_057434.4:p.Glu225Lys NC_000014.9:50773088:C:T p.(Glu225Lys) NC_000014.9:50773088:C:T p.(Glu225Lys) NC_000014.9:50773088:C:T Identity +NM_001201543.2:c.58A>G NP_001188472.1:p.Asn20Asp NC_000002.12:61853983:T:C p.(Asn20Asp) NC_000002.12:61853983:T:C p.(Asn20Asp) NC_000002.12:61853983:T:C Identity +NM_001291285.3:c.7190C>T NP_001278214.1:p.Ala2397Val NC_000004.12:125434415:C:T p.(Ala2397Val) NC_000004.12:125434415:C:T p.(Ala2397Val) NC_000004.12:125434415:C:T Identity +NM_020338.4:c.778G>A NP_065071.1:p.Ala260Thr NC_000010.11:79292176:G:A p.(Ala260Thr) NC_000010.11:79292176:G:A p.(Ala260Thr) NC_000010.11:79292176:G:A Identity +NM_013432.5:c.3853G>A NP_038460.4:p.Ala1285Thr NC_000008.11:144430493:C:T p.(Ala1285Thr) NC_000008.11:144430493:C:T p.(Ala1285Thr) NC_000008.11:144430493:C:T Identity +NM_001330723.2:c.1313G>A NP_001317652.1:p.Arg438Lys NC_000001.11:151692507:G:A p.(Arg438Lys) NC_000001.11:151692507:G:A p.(Arg438Lys) NC_000001.11:151692507:G:A Identity +NM_000016.6:c.820A>G NP_000007.1:p.Met274Val NC_000001.11:75749529:A:G p.(Met274Val) NC_000001.11:75749529:A:G p.(Met274Val) NC_000001.11:75749529:A:G Identity +NM_001145152.2:c.329C>T NP_001138624.1:p.Thr110Ile NC_000008.11:17268943:C:T p.(Thr110Ile) NC_000008.11:17268943:C:T p.(Thr110Ile) NC_000008.11:17268943:C:T Identity +NM_001010867.4:c.454G>T NP_001010867.1:p.Glu152Ter NC_000001.11:228174803:G:T p.(Glu152Ter) NC_000001.11:228174803:G:T p.(Glu152Ter) NC_000001.11:228174803:G:T Identity +NM_000920.4:c.1151C>T NP_000911.2:p.Ala384Val NC_000011.10:66866220:G:A p.(Ala384Val) NC_000011.10:66866220:G:A p.(Ala384Val) NC_000011.10:66866220:G:A Identity +NM_004279.3:c.881C>T NP_004270.2:p.Ala294Val NC_000007.14:103308982:C:T p.(Ala294Val) NC_000007.14:103308982:C:T p.(Ala294Val) NC_000007.14:103308982:C:T Identity +NM_032444.4:c.2993C>T NP_115820.2:p.Ser998Phe NC_000016.10:3590644:G:A p.(Ser998Phe) NC_000016.10:3590644:G:A p.(Ser998Phe) NC_000016.10:3590644:G:A Identity +NM_001174081.3:c.3124A>G NP_001167552.1:p.Ile1042Val NC_000019.10:55000832:A:G p.(Ile1042Val) NC_000019.10:55000832:A:G p.(Ile1042Val) NC_000019.10:55000832:A:G Identity +NM_003803.4:c.2938C>T NP_003794.3:p.Pro980Ser NC_000018.10:3126753:G:A p.(Pro980Ser) NC_000018.10:3126753:G:A p.(Pro980Ser) NC_000018.10:3126753:G:A Identity +NM_001159291.2:c.2615G>A NP_001152763.1:p.Arg872His NC_000006.12:109445204:C:T p.(Arg872His) NC_000006.12:109445204:C:T p.(Arg872His) NC_000006.12:109445204:C:T Identity +NM_001365819.1:c.4237G>A NP_001352748.1:p.Asp1413Asn NC_000022.11:50455536:C:T p.(Asp1413Asn) NC_000022.11:50455536:C:T p.(Asp1413Asn) NC_000022.11:50455536:C:T Identity +NM_001282948.2:c.2144G>A NP_001269877.1:p.Arg715Lys NC_000010.11:63213476:C:T p.(Arg715Lys) NC_000010.11:63213476:C:T p.(Arg715Lys) NC_000010.11:63213476:C:T Identity +NM_032119.4:c.13364G>C NP_115495.3:p.Ser4455Thr NC_000005.10:90783255:G:C p.(Ser4455Thr) NC_000005.10:90783255:G:C p.(Ser4455Thr) NC_000005.10:90783255:G:C Identity +NM_000236.3:c.404G>A NP_000227.2:p.Arg135His NC_000015.10:58541914:G:A p.(Arg135His) NC_000015.10:58541914:G:A p.(Arg135His) NC_000015.10:58541914:G:A Identity +NM_170606.3:c.7445T>C NP_733751.2:p.Phe2482Ser NC_000007.14:152178007:A:G p.(Phe2482Ser) NC_000007.14:152178007:A:G p.(Phe2482Ser) NC_000007.14:152178007:A:G Identity +NM_001354663.2:c.1660C>G NP_001341592.1:p.Leu554Val NC_000003.12:193657094:C:G p.(Leu554Val) NC_000003.12:193657094:C:G p.(Leu554Val) NC_000003.12:193657094:C:G Identity +NM_001102406.2:c.1979C>T NP_001095876.1:p.Pro660Leu NC_000004.12:112431525:C:T p.(Pro660Leu) NC_000004.12:112431525:C:T p.(Pro660Leu) NC_000004.12:112431525:C:T Identity +NM_005560.6:c.10693C>T NP_005551.3:p.Arg3565Trp NC_000020.11:62310218:G:A p.(Arg3565Trp) NC_000020.11:62310218:G:A p.(Arg3565Trp) NC_000020.11:62310218:G:A Identity +NM_001080976.3:c.340G>T NP_001074445.1:p.Val114Leu NC_000006.12:116399589:G:T p.(Val114Leu) NC_000006.12:116399589:G:T p.(Val114Leu) NC_000006.12:116399589:G:T Identity +NM_006397.3:c.217G>A NP_006388.2:p.Glu73Lys NC_000019.10:12807222:G:A p.(Glu73Lys) NC_000019.10:12807222:G:A p.(Glu73Lys) NC_000019.10:12807222:G:A Identity +NM_001256545.2:c.815G>A NP_001243474.1:p.Arg272His NC_000005.10:127402579:G:A p.(Arg272His) NC_000005.10:127402579:G:A p.(Arg272His) NC_000005.10:127402579:G:A Identity +NM_001322404.2:c.311G>A NP_001309333.1:p.Arg104Gln NC_000011.10:86337420:G:A p.(Arg104Gln) NC_000011.10:86337420:G:A p.(Arg104Gln) NC_000011.10:86337420:G:A Identity +NM_001168249.1:c.1483G>A NP_001161721.1:p.Asp495Asn NC_000001.11:103005851:C:T ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001288607.2:c.302G>A NP_001275536.1:p.Gly101Asp NC_000001.11:150553120:G:A p.(Gly101Asp) NC_000001.11:150553120:G:A p.(Gly101Asp) NC_000001.11:150553120:G:A Identity +NM_024747.6:c.2233G>A NP_079023.2:p.Ala745Thr NC_000010.11:102067706:G:A p.(Ala745Thr) NC_000010.11:102067706:G:A p.(Ala745Thr) NC_000010.11:102067706:G:A Identity +NM_001025616.3:c.1856G>A NP_001020787.2:p.Arg619Gln NC_000004.12:85995509:G:A p.(Arg619Gln) NC_000004.12:85995509:G:A p.(Arg619Gln) NC_000004.12:85995509:G:A Identity +NM_001410755.1:c.1619C>T NP_001397684.1:p.Pro540Leu NC_000001.11:15727750:C:T p.(Pro540Leu) NC_000001.11:15727750:C:T p.(Pro540Leu) NC_000001.11:15727750:C:T Identity +NM_001453.3:c.1235T>G NP_001444.2:p.Leu412Trp NC_000006.12:1611679:T:G p.(Leu412Trp) NC_000006.12:1611679:T:G p.(Leu412Trp) NC_000006.12:1611679:T:G Identity +NM_001382235.1:c.2648T>G NP_001369164.1:p.Val883Gly NC_000020.11:63406668:A:C p.(Val883Gly) NC_000020.11:63406668:A:C p.(Val883Gly) NC_000020.11:63406668:A:C Identity +NM_001142763.2:c.2465C>G NP_001136235.1:p.Pro822Arg NC_000010.11:54022967:G:C p.(Pro822Arg) NC_000010.11:54022967:G:C p.(Pro822Arg) NC_000010.11:54022967:G:C Identity +NM_001199138.2:c.705G>A NP_001186067.1:p.Met235Ile NC_000002.12:32251158:C:T p.(Met235Ile) NC_000002.12:32251158:C:T p.(Met235Ile) NC_000002.12:32251158:C:T Identity +NM_032242.4:c.3316G>A NP_115618.3:p.Ala1106Thr NC_000003.12:127017463:G:A p.(Ala1106Thr) NC_000003.12:127017463:G:A p.(Ala1106Thr) NC_000003.12:127017463:G:A Identity +NM_015180.6:c.5221C>T NP_055995.4:p.His1741Tyr NC_000014.9:64021383:C:T p.(His1741Tyr) NC_000014.9:64021383:C:T p.(His1741Tyr) NC_000014.9:64021383:C:T Identity +NM_032816.5:c.2197C>T NP_116205.3:p.Arg733Ter NC_000019.10:32879316:G:A p.(Arg733Ter) NC_000019.10:32879316:G:A p.(Arg733Ter) NC_000019.10:32879316:G:A Identity +NM_001284351.3:c.785C>T NP_001271280.1:p.Thr262Met NC_000005.10:484666:G:A p.(Thr262Met) NC_000005.10:484666:G:A p.(Thr262Met) NC_000005.10:484666:G:A Identity +NM_001110556.2:c.4762G>A NP_001104026.1:p.Glu1588Lys NC_000023.11:154357616:C:T p.(Glu1588Lys) NC_000023.11:154357616:C:T p.(Glu1588Lys) NC_000023.11:154357616:C:T Identity +NM_000135.4:c.3425G>A NP_000126.2:p.Cys1142Tyr NC_000016.10:89746671:C:T p.(Cys1142Tyr) NC_000016.10:89746671:C:T p.(Cys1142Tyr) NC_000016.10:89746671:C:T Identity +NM_001172818.1:c.1198G>A NP_001166289.1:p.Gly400Ser NC_000001.11:63638799:G:A p.(Gly400Ser) NC_000001.11:63638799:G:A p.(Gly400Ser) NC_000001.11:63638799:G:A Identity +NM_001845.6:c.3183_3184delinsAG NP_001836.3:p.Leu1062Val NC_000013.11:110175231:GC:CT p.(Leu1062Val) NC_000013.11:110175231:GC:CT p.(Leu1062Val) NC_000013.11:110175231:GC:CT Identity +NM_003482.4:c.12799C>T NP_003473.3:p.Pro4267Ser NC_000012.12:49031905:G:A p.(Pro4267Ser) NC_000012.12:49031905:G:A p.(Pro4267Ser) NC_000012.12:49031905:G:A Identity +NM_006015.6:c.2594A>G NP_006006.3:p.Asn865Ser NC_000001.11:26763146:A:G p.(Asn865Ser) NC_000001.11:26763146:A:G p.(Asn865Ser) NC_000001.11:26763146:A:G Identity +NM_001130955.2:c.3136C>T NP_001124427.2:p.Arg1046Cys NC_000019.10:7469977:C:T p.(Arg1046Cys) NC_000019.10:7469977:C:T p.(Arg1046Cys) NC_000019.10:7469977:C:T Identity +NM_003482.4:c.13633G>A NP_003473.3:p.Val4545Ile NC_000012.12:49030930:C:T p.(Val4545Ile) NC_000012.12:49030930:C:T p.(Val4545Ile) NC_000012.12:49030930:C:T Identity +NM_005908.4:c.1352T>A NP_005899.3:p.Ile451Lys NC_000004.12:102664817:A:T p.(Ile451Lys) NC_000004.12:102664817:A:T p.(Ile451Lys) NC_000004.12:102664817:A:T Identity +NM_000195.5:c.324G>C NP_000186.2:p.Lys108Asn NC_000010.11:98435345:C:G p.(Lys108Asn) NC_000010.11:98435345:C:G p.(Lys108Asn) NC_000010.11:98435345:C:G Identity +NM_001199922.2:c.154G>A NP_001186851.1:p.Asp52Asn NC_000011.10:124660773:C:T p.(Asp52Asn) NC_000011.10:124660773:C:T p.(Asp52Asn) NC_000011.10:124660773:C:T Identity +NM_001365536.1:c.2392A>T NP_001352465.1:p.Met798Leu NC_000002.12:166278264:T:A p.(Met798Leu) NC_000002.12:166278264:T:A p.(Met798Leu) NC_000002.12:166278264:T:A Identity +NM_001302946.2:c.1075C>G NP_001289875.2:p.Gln359Glu NC_000003.12:3147983:C:G p.(Gln359Glu) NC_000003.12:3147983:C:G p.(Gln359Glu) NC_000003.12:3147983:C:G Identity +NM_015512.5:c.7456C>T NP_056327.4:p.Arg2486Cys NC_000003.12:52379982:C:T p.(Arg2486Cys) NC_000003.12:52379982:C:T p.(Arg2486Cys) NC_000003.12:52379982:C:T Identity +NM_001349253.2:c.211C>T NP_001336182.1:p.Arg71Cys NC_000003.12:38950151:G:A p.(Arg71Cys) NC_000003.12:38950151:G:A p.(Arg71Cys) NC_000003.12:38950151:G:A Identity +NM_004446.3:c.4472C>T NP_004437.2:p.Pro1491Leu NC_000001.11:219968872:G:A p.(Pro1491Leu) NC_000001.11:219968872:G:A p.(Pro1491Leu) NC_000001.11:219968872:G:A Identity +NM_194318.4:c.1334G>A NP_919299.3:p.Arg445Gln NC_000013.11:31329504:G:A p.(Arg445Gln) NC_000013.11:31329504:G:A p.(Arg445Gln) NC_000013.11:31329504:G:A Identity +NM_001351527.2:c.4445A>G NP_001338456.1:p.Glu1482Gly NC_000009.12:132327152:T:C p.(Glu1482Gly) NC_000009.12:132327152:T:C p.(Glu1482Gly) NC_000009.12:132327152:T:C Identity +NM_001271427.2:c.853G>A NP_001258356.1:p.Asp285Asn NC_000001.11:19239918:C:T p.(Asp285Asn) NC_000001.11:19239918:C:T p.(Asp285Asn) NC_000001.11:19239918:C:T Identity +NM_020745.4:c.1329T>A NP_065796.2:p.Cys443Ter NC_000006.12:44305757:A:T p.(Cys443Ter) NC_000006.12:44305757:A:T p.(Cys443Ter) NC_000006.12:44305757:A:T Identity +NM_000445.5:c.7219G>A NP_000436.2:p.Ala2407Thr NC_000008.11:143922790:C:T p.(Ala2407Thr) NC_000008.11:143922790:C:T p.(Ala2407Thr) NC_000008.11:143922790:C:T Identity +NM_001024688.3:c.376A>G NP_001019859.1:p.Lys126Glu NC_000008.11:89971252:T:C p.(Lys126Glu) NC_000008.11:89971252:T:C p.(Lys126Glu) NC_000008.11:89971252:T:C Identity +NM_001252020.2:c.3828C>G NP_001238949.1:p.Ile1276Met NC_000015.10:31002922:G:C p.(Ile1276Met) NC_000015.10:31002922:G:C p.(Ile1276Met) NC_000015.10:31002922:G:C Identity +NM_001385640.1:c.1103C>T NP_001372569.1:p.Pro368Leu NC_000001.11:939316:C:T p.(Pro368Leu) NC_000001.11:939316:C:T p.(Pro368Leu) NC_000001.11:939316:C:T Identity +NM_032737.4:c.1744G>A NP_116126.3:p.Val582Met NC_000019.10:2431624:C:T p.(Val582Met) NC_000019.10:2431624:C:T p.(Val582Met) NC_000019.10:2431624:C:T Identity +NM_015202.5:c.4090G>A NP_056017.4:p.Val1364Met NC_000016.10:27769974:G:A p.(Val1364Met) NC_000016.10:27769974:G:A p.(Val1364Met) NC_000016.10:27769974:G:A Identity +NM_001320942.2:c.355G>A NP_001307871.2:p.Gly119Arg NC_000015.10:78466385:G:A p.(Gly119Arg) NC_000015.10:78466385:G:A p.(Gly119Arg) NC_000015.10:78466385:G:A Identity +NM_000718.4:c.6022G>A NP_000709.1:p.Glu2008Lys NC_000009.12:138118759:G:A p.(Glu2008Lys) NC_000009.12:138118759:G:A p.(Glu2008Lys) NC_000009.12:138118759:G:A Identity +NM_001321309.2:c.3253G>A NP_001308238.1:p.Val1085Met NC_000003.12:123666268:C:T p.(Val1085Met) NC_000003.12:123666268:C:T p.(Val1085Met) NC_000003.12:123666268:C:T Identity +NM_000401.3:c.1870T>C NP_000392.3:p.Ser624Pro NC_000011.10:44232460:T:C p.(Ser624Pro) NC_000011.10:44232460:T:C p.(Ser624Pro) NC_000011.10:44232460:T:C Identity +NM_000263.4:c.259G>T NP_000254.2:p.Ala87Ser NC_000017.11:42536530:G:T p.(Ala87Ser) NC_000017.11:42536530:G:T p.(Ala87Ser) NC_000017.11:42536530:G:T Identity +NM_001384165.1:c.662G>C NP_001371094.1:p.Ser221Thr NC_000017.11:44076008:G:C p.(Ser221Thr) NC_000017.11:44076008:G:C p.(Ser221Thr) NC_000017.11:44076008:G:C Identity +NM_001111.5:c.110G>T NP_001102.3:p.Ser37Ile NC_000001.11:154602531:C:A p.(Ser37Ile) NC_000001.11:154602531:C:A p.(Ser37Ile) NC_000001.11:154602531:C:A Identity +NM_014974.3:c.4396G>A NP_055789.1:p.Ala1466Thr NC_000010.11:281221:C:T p.(Ala1466Thr) NC_000010.11:281221:C:T p.(Ala1466Thr) NC_000010.11:281221:C:T Identity +NM_000350.3:c.835G>A NP_000341.2:p.Asp279Asn NC_000001.11:94083374:C:T p.(Asp279Asn) NC_000001.11:94083374:C:T p.(Asp279Asn) NC_000001.11:94083374:C:T Identity +NM_001114978.2:c.26C>G NP_001108450.1:p.Ala9Gly NC_000003.12:189631540:C:G p.(Ala9Gly) NC_000003.12:189631540:C:G p.(Ala9Gly) NC_000003.12:189631540:C:G Identity +NM_031935.3:c.11812C>A NP_114141.2:p.Leu3938Ile NC_000001.11:186117586:C:A p.(Leu3938Ile) NC_000001.11:186117586:C:A p.(Leu3938Ile) NC_000001.11:186117586:C:A Identity +NM_018475.5:c.17_18delinsGG NP_060945.2:p.Pro6Arg NC_000004.12:55396205:CA:GG p.(Pro6Arg) NC_000004.12:55396205:CA:GG p.(Pro6Arg) NC_000004.12:55396205:CA:GG Identity +NM_000497.4:c.1438G>A NP_000488.3:p.Asp480Asn NC_000008.11:142874446:C:T p.(Asp480Asn) NC_000008.11:142874446:C:T p.(Asp480Asn) NC_000008.11:142874446:C:T Identity +NM_015560.3:c.316G>C NP_056375.2:p.Gly106Arg NC_000003.12:193615005:G:C p.(Gly106Arg) NC_000003.12:193615005:G:C p.(Gly106Arg) NC_000003.12:193615005:G:C Identity +NM_133497.4:c.875G>T NP_598004.1:p.Gly292Val NC_000009.12:2718613:G:T p.(Gly292Val) NC_000009.12:2718613:G:T p.(Gly292Val) NC_000009.12:2718613:G:T Identity +NM_000540.3:c.12554C>A NP_000531.2:p.Ala4185Glu NC_000019.10:38561383:C:A p.(Ala4185Glu) NC_000019.10:38561383:C:A p.(Ala4185Glu) NC_000019.10:38561383:C:A Identity +NM_000718.4:c.6547G>A NP_000709.1:p.Gly2183Ser NC_000009.12:138121525:G:A p.(Gly2183Ser) NC_000009.12:138121525:G:A p.(Gly2183Ser) NC_000009.12:138121525:G:A Identity +NM_005041.6:c.620C>T NP_005032.2:p.Ser207Phe NC_000010.11:70599100:G:A p.(Ser207Phe) NC_000010.11:70599100:G:A p.(Ser207Phe) NC_000010.11:70599100:G:A Identity +NM_000425.5:c.1386C>A NP_000416.1:p.Asp462Glu NC_000023.11:153868720:G:T p.(Asp462Glu) NC_000023.11:153868720:G:T p.(Asp462Glu) NC_000023.11:153868720:G:T Identity +NM_001308122.2:c.215G>A NP_001295051.1:p.Arg72Gln NC_000005.10:132370186:G:A p.(Arg72Gln) NC_000005.10:132370186:G:A p.(Arg72Gln) NC_000005.10:132370186:G:A Identity +NM_001142800.2:c.1112A>T NP_001136272.1:p.Gln371Leu NC_000006.12:65402549:T:A p.(Gln371Leu) NC_000006.12:65402549:T:A p.(Gln371Leu) NC_000006.12:65402549:T:A Identity +NM_001177310.2:c.4006T>A NP_001170781.1:p.Tyr1336Asn NC_000009.12:74762649:A:T p.(Tyr1336Asn) NC_000009.12:74762649:A:T p.(Tyr1336Asn) NC_000009.12:74762649:A:T Identity +NM_001318219.1:c.2593del NP_001305148.1:p.Gln865fs NC_000020.11:35502856:CC:C p.(Gln865ArgfsTer7) NC_000020.11:35502856:CC:C p.(Gln865ArgfsTer7) NC_000020.11:35502857:C: Analogous +NM_080679.3:c.934C>A NP_542410.2:p.Pro312Thr NC_000006.12:33180696:G:T p.(Pro312Thr) NC_000006.12:33180696:G:T p.(Pro312Thr) NC_000006.12:33180696:G:T Identity +NM_015488.5:c.369del NP_056303.3:p.Ile124fs NC_000002.12:218340042:CCC:CC p.(Ile124SerfsTer149) NC_000002.12:218340042:CCC:CC p.(Ile124SerfsTer149) NC_000002.12:218340044:C: Analogous +NM_201378.4:c.9353G>A NP_958780.1:p.Arg3118His NC_000008.11:143920425:C:T p.(Arg3118His) NC_000008.11:143920425:C:T p.(Arg3118His) NC_000008.11:143920425:C:T Identity +NM_001353229.2:c.528C>G NP_001340158.1:p.Ile176Met NC_000017.11:17224065:G:C p.(Ile176Met) NC_000017.11:17224065:G:C p.(Ile176Met) NC_000017.11:17224065:G:C Identity +NM_000038.6:c.3524A>T NP_000029.2:p.Gln1175Leu NC_000005.10:112839117:A:T p.(Gln1175Leu) NC_000005.10:112839117:A:T p.(Gln1175Leu) NC_000005.10:112839117:A:T Identity +NM_001410858.1:c.7510C>T NP_001397787.1:p.Arg2504Cys NC_000018.10:45855619:G:A p.(Arg2504Cys) NC_000018.10:45855619:G:A p.(Arg2504Cys) NC_000018.10:45855619:G:A Identity +NM_001184985.2:c.7739T>C NP_001171914.1:p.Met2580Thr NC_000012.12:908601:T:C p.(Met2580Thr) NC_000012.12:908601:T:C p.(Met2580Thr) NC_000012.12:908601:T:C Identity +NM_032861.4:c.341G>A NP_116250.3:p.Arg114Gln NC_000006.12:158148878:C:T p.(Arg114Gln) NC_000006.12:158148878:C:T p.(Arg114Gln) NC_000006.12:158148878:C:T Identity +NM_001142298.2:c.383G>A NP_001135770.1:p.Arg128His NC_000005.10:179824284:G:A p.(Arg128His) NC_000005.10:179824284:G:A p.(Arg128His) NC_000005.10:179824284:G:A Identity +NM_001114331.3:c.481G>A NP_001107803.1:p.Ala161Thr NC_000016.10:1460458:C:T p.(Ala161Thr) NC_000016.10:1460458:C:T p.(Ala161Thr) NC_000016.10:1460458:C:T Identity +NM_003482.4:c.5756C>T NP_003473.3:p.Thr1919Met NC_000012.12:49042766:G:A p.(Thr1919Met) NC_000012.12:49042766:G:A p.(Thr1919Met) NC_000012.12:49042766:G:A Identity +NM_001316690.1:c.1376G>A NP_001303619.1:p.Arg459His NC_000008.11:60742807:G:A p.(Arg459His) NC_000008.11:60742807:G:A p.(Arg459His) NC_000008.11:60742807:G:A Identity +NM_001302455.2:c.467A>G NP_001289384.1:p.His156Arg NC_000020.11:59321117:A:G p.(His156Arg) NC_000020.11:59321117:A:G p.(His156Arg) NC_000020.11:59321117:A:G Identity +NM_001031714.4:c.1253C>T NP_001026884.3:p.Ala418Val NC_000014.9:104707519:C:T p.(Ala418Val) NC_000014.9:104707519:C:T p.(Ala418Val) NC_000014.9:104707519:C:T Identity +NM_139318.5:c.2026T>G NP_647479.2:p.Phe676Val NC_000014.9:62708448:A:C p.(Phe676Val) NC_000014.9:62708448:A:C p.(Phe676Val) NC_000014.9:62708448:A:C Identity +NM_020461.4:c.1048T>C NP_065194.3:p.Cys350Arg NC_000022.11:50233383:A:G p.(Cys350Arg) NC_000022.11:50233383:A:G p.(Cys350Arg) NC_000022.11:50233383:A:G Identity +LRG_1212t1:c.214C>T LRG_1212p1:p.Arg72Trp NC_000001.11:154602427:G:A ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1212t1, alt_ac=LRG_1212t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1212t1 not found +NM_001277126.2:c.436C>G NP_001264055.1:p.Arg146Gly NC_000019.10:53811222:G:C p.(Arg146Gly) NC_000019.10:53811222:G:C p.(Arg146Gly) NC_000019.10:53811222:G:C Identity +NM_001077365.2:c.344C>T NP_001070833.1:p.Ser115Leu NC_000009.12:131507430:C:T p.(Ser115Leu) NC_000009.12:131507430:C:T p.(Ser115Leu) NC_000009.12:131507430:C:T Identity +NM_001193300.2:c.1889G>T NP_001180229.1:p.Gly630Val NC_000001.11:156176599:G:T p.(Gly630Val) NC_000001.11:156176599:G:T p.(Gly630Val) NC_000001.11:156176599:G:T Identity +NM_080679.3:c.3377G>A NP_542410.2:p.Arg1126His NC_000006.12:33169482:C:T p.(Arg1126His) NC_000006.12:33169482:C:T p.(Arg1126His) NC_000006.12:33169482:C:T Identity +NM_005876.5:c.1148G>C NP_005867.3:p.Arg383Pro NC_000002.12:219448305:G:C p.(Arg383Pro) NC_000002.12:219448305:G:C p.(Arg383Pro) NC_000002.12:219448305:G:C Identity +NM_000604.2:c.1229G>A NP_000595.1:p.Ser410Asn NC_000008.11:38419587:C:T ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001291860.2:c.3357C>G NP_001278789.1:p.Asp1119Glu NC_000001.11:21874950:G:C p.(Asp1119Glu) NC_000001.11:21874950:G:C p.(Asp1119Glu) NC_000001.11:21874950:G:C Identity +NM_001252043.2:c.1219C>G NP_001238972.1:p.His407Asp NC_000016.10:29983290:C:G p.(His407Asp) NC_000016.10:29983290:C:G p.(His407Asp) NC_000016.10:29983290:C:G Identity +NM_005787.6:c.50C>T NP_005778.1:p.Ala17Val NC_000003.12:184248890:G:A p.(Ala17Val) NC_000003.12:184248890:G:A p.(Ala17Val) NC_000003.12:184248890:G:A Identity +NM_001411101.1:c.3269G>C NP_001398030.1:p.Arg1090Thr NC_000017.11:82938086:G:C p.(Arg1090Thr) NC_000017.11:82938086:G:C p.(Arg1090Thr) NC_000017.11:82938086:G:C Identity +NM_001190983.2:c.287C>T NP_001177912.1:p.Ala96Val NC_000016.10:19075753:C:T p.(Ala96Val) NC_000016.10:19075753:C:T p.(Ala96Val) NC_000016.10:19075753:C:T Identity +NM_001291285.3:c.3676C>A NP_001278214.1:p.Leu1226Met NC_000004.12:125320086:C:A p.(Leu1226Met) NC_000004.12:125320086:C:A p.(Leu1226Met) NC_000004.12:125320086:C:A Identity +NM_014510.3:c.8396C>A NP_055325.2:p.Thr2799Lys NC_000007.14:82952556:G:T p.(Thr2799Lys) NC_000007.14:82952556:G:T p.(Thr2799Lys) NC_000007.14:82952556:G:T Identity +NM_001202504.1:c.2294A>G NP_001189433.1:p.Glu765Gly NC_000018.10:79736424:A:G p.(Glu765Gly) NC_000018.10:79736424:A:G p.(Glu765Gly) NC_000018.10:79736424:A:G Identity +NM_001130965.3:c.615C>T NP_001124437.1:p.Pro205= NC_000007.14:843476:C:T p.(Pro205=) NC_000007.14:843476:C:T p.(Pro205=) NC_000007.14:843476:C:T Identity +NM_001261427.3:c.169C>T NP_001248356.1:p.Arg57Cys NC_000002.12:11765691:C:T p.(Arg57Cys) NC_000002.12:11765691:C:T p.(Arg57Cys) NC_000002.12:11765691:C:T Identity +NM_001410772.1:c.1523A>G NP_001397701.1:p.His508Arg NC_000003.12:52403567:T:C p.(His508Arg) NC_000003.12:52403567:T:C p.(His508Arg) NC_000003.12:52403567:T:C Identity +NM_000254.3:c.2395A>G NP_000245.2:p.Asn799Asp NC_000001.11:236863543:A:G p.(Asn799Asp) NC_000001.11:236863543:A:G p.(Asn799Asp) NC_000001.11:236863543:A:G Identity +NM_001289905.2:c.41C>G NP_001276834.1:p.Pro14Arg NC_000022.11:17085131:C:G p.(Pro14Arg) NC_000022.11:17085131:C:G p.(Pro14Arg) NC_000022.11:17085131:C:G Identity +NM_001166136.2:c.526G>A NP_001159608.1:p.Gly176Arg NC_000004.12:5685419:C:T p.(Gly176Arg) NC_000004.12:5685419:C:T p.(Gly176Arg) NC_000004.12:5685419:C:T Identity +NM_001136139.4:c.878_880del NP_001129611.1:p.Phe293del NC_000019.10:1621912:AGAAG:AG p.(Phe293del) NC_000019.10:1621912:AGAAG:AG p.(Phe293del) NC_000019.10:1621912:AGA: Identity +NM_001367225.1:c.77G>A NP_001354154.1:p.Arg26His NC_000016.10:87936373:C:T p.(Arg26His) NC_000016.10:87936373:C:T p.(Arg26His) NC_000016.10:87936373:C:T Identity +NM_000310.4:c.89C>G NP_000301.1:p.Pro30Arg NC_000001.11:40097149:G:C p.(Pro30Arg) NC_000001.11:40097149:G:C p.(Pro30Arg) NC_000001.11:40097149:G:C Identity +NM_021076.4:c.1558G>A NP_066554.2:p.Val520Ile NC_000022.11:29489197:G:A p.(Val520Ile) NC_000022.11:29489197:G:A p.(Val520Ile) NC_000022.11:29489197:G:A Identity +NM_001135659.3:c.1419C>G NP_001129131.1:p.Asn473Lys NC_000002.12:50620042:G:C p.(Asn473Lys) NC_000002.12:50620042:G:C p.(Asn473Lys) NC_000002.12:50620042:G:C Identity +NM_001204255.2:c.890A>G NP_001191184.1:p.Tyr297Cys NC_000004.12:76163303:T:C p.(Tyr297Cys) NC_000004.12:76163303:T:C p.(Tyr297Cys) NC_000004.12:76163303:T:C Identity +NM_022166.4:c.515C>T NP_071449.1:p.Thr172Ile NC_000016.10:17259385:G:A p.(Thr172Ile) NC_000016.10:17259385:G:A p.(Thr172Ile) NC_000016.10:17259385:G:A Identity +NM_001271052.1:c.830C>A NP_001257981.1:p.Thr277Lys NC_000019.10:14765395:G:T p.(Thr277Lys) NC_000019.10:14765395:G:T p.(Thr277Lys) NC_000019.10:14765395:G:T Identity +NM_000135.4:c.3889A>G NP_000126.2:p.Lys1297Glu NC_000016.10:89740038:T:C p.(Lys1297Glu) NC_000016.10:89740038:T:C p.(Lys1297Glu) NC_000016.10:89740038:T:C Identity +NM_016216.4:c.55A>G NP_057300.2:p.Thr19Ala NC_000003.12:138174740:T:C p.(Thr19Ala) NC_000003.12:138174740:T:C p.(Thr19Ala) NC_000003.12:138174740:T:C Identity +NM_001256789.3:c.94C>T NP_001243718.1:p.Pro32Ser NC_000023.11:49231858:G:A p.(Pro32Ser) NC_000023.11:49231858:G:A p.(Pro32Ser) NC_000023.11:49231858:G:A Identity +NM_006019.4:c.475G>A NP_006010.2:p.Gly159Arg NC_000011.10:68043002:G:A p.(Gly159Arg) NC_000011.10:68043002:G:A p.(Gly159Arg) NC_000011.10:68043002:G:A Identity +NM_001033053.3:c.3523G>C NP_001028225.1:p.Ala1175Pro NC_000017.11:5530489:C:G p.(Ala1175Pro) NC_000017.11:5530489:C:G p.(Ala1175Pro) NC_000017.11:5530489:C:G Identity +NM_001171653.2:c.3523A>T NP_001165124.1:p.Met1175Leu NC_000002.12:144389500:T:A p.(Met1175Leu) NC_000002.12:144389500:T:A p.(Met1175Leu) NC_000002.12:144389500:T:A Identity +NM_001164097.2:c.2884G>T NP_001157569.1:p.Ala962Ser NC_000005.10:83538847:G:T p.(Ala962Ser) NC_000005.10:83538847:G:T p.(Ala962Ser) NC_000005.10:83538847:G:T Identity +NM_000562.3:c.205T>G NP_000553.1:p.Phe69Val NC_000001.11:56874981:T:G p.(Phe69Val) NC_000001.11:56874981:T:G p.(Phe69Val) NC_000001.11:56874981:T:G Identity +NM_013432.5:c.3152C>T NP_038460.4:p.Ser1051Phe NC_000008.11:144434212:G:A p.(Ser1051Phe) NC_000008.11:144434212:G:A p.(Ser1051Phe) NC_000008.11:144434212:G:A Identity +NM_001378285.1:c.845A>T NP_001365214.1:p.Lys282Met NC_000003.12:149960802:A:T p.(Lys282Met) NC_000003.12:149960802:A:T p.(Lys282Met) NC_000003.12:149960802:A:T Identity +NM_001316690.1:c.604C>A NP_001303619.1:p.Gln202Lys NC_000008.11:60742035:C:A p.(Gln202Lys) NC_000008.11:60742035:C:A p.(Gln202Lys) NC_000008.11:60742035:C:A Identity +NM_020376.4:c.866A>G NP_065109.1:p.Gln289Arg NC_000011.10:823801:A:G p.(Gln289Arg) NC_000011.10:823801:A:G p.(Gln289Arg) NC_000011.10:823801:A:G Identity +NM_024753.5:c.3380dup NP_079029.3:p.Asn1127fs NC_000002.12:165888357:TTTT:TTTTT p.(Asn1127LysfsTer12) NC_000002.12:165888357:TTTT:TTTTT p.(Asn1127LysfsTer12) ERR:SPDI Analogous +NM_001271043.2:c.711_712dup NP_001257972.1:p.Val238fs NC_000019.10:13073482:GAGAG:GAGAGAG p.(Val238GlufsTer31) NC_000019.10:13073482:GAGAG:GAGAGAG p.(Val238GlufsTer31) ERR:SPDI Analogous +NM_031935.3:c.13867C>T NP_114141.2:p.Arg4623Trp NC_000001.11:186137914:C:T p.(Arg4623Trp) NC_000001.11:186137914:C:T p.(Arg4623Trp) NC_000001.11:186137914:C:T Identity +NM_001379141.1:c.3327T>G NP_001366070.1:p.His1109Gln NC_000018.10:44952666:T:G p.(His1109Gln) NC_000018.10:44952666:T:G p.(His1109Gln) NC_000018.10:44952666:T:G Identity +NM_031935.3:c.76C>T NP_114141.2:p.Pro26Ser NC_000001.11:185734854:C:T p.(Pro26Ser) NC_000001.11:185734854:C:T p.(Pro26Ser) NC_000001.11:185734854:C:T Identity +NM_000742.4:c.1105G>A NP_000733.2:p.Ala369Thr NC_000008.11:27463337:C:T p.(Ala369Thr) NC_000008.11:27463337:C:T p.(Ala369Thr) NC_000008.11:27463337:C:T Identity +NM_001364858.1:c.487G>A NP_001351787.1:p.Asp163Asn NC_000007.14:4785437:G:A p.(Asp163Asn) NC_000007.14:4785437:G:A p.(Asp163Asn) NC_000007.14:4785437:G:A Identity +NM_018117.12:c.1280T>G NP_060587.8:p.Leu427Ter NC_000010.11:120867154:T:G p.(Leu427Ter) NC_000010.11:120867154:T:G p.(Leu427Ter) NC_000010.11:120867154:T:G Identity +NM_000199.5:c.1394G>A NP_000190.1:p.Arg465Gln NC_000017.11:80210566:C:T p.(Arg465Gln) NC_000017.11:80210566:C:T p.(Arg465Gln) NC_000017.11:80210566:C:T Identity +NM_145059.3:c.1687G>T NP_659496.2:p.Glu563Ter NC_000016.10:70473262:G:T p.(Glu563Ter) NC_000016.10:70473262:G:T p.(Glu563Ter) NC_000016.10:70473262:G:T Identity +NM_006745.5:c.315C>A NP_006736.1:p.His105Gln NC_000004.12:165337847:C:A p.(His105Gln) NC_000004.12:165337847:C:A p.(His105Gln) NC_000004.12:165337847:C:A Identity +NM_001142763.2:c.4573G>T NP_001136235.1:p.Asp1525Tyr NC_000010.11:53823173:C:A p.(Asp1525Tyr) NC_000010.11:53823173:C:A p.(Asp1525Tyr) NC_000010.11:53823173:C:A Identity +NM_001145844.1:c.4528G>A NP_001139316.1:p.Glu1510Lys NC_000003.12:78606813:C:T ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_001447.3:c.7760C>T NP_001438.1:p.Ala2587Val NC_000005.10:151543366:G:A p.(Ala2587Val) NC_000005.10:151543366:G:A p.(Ala2587Val) NC_000005.10:151543366:G:A Identity +NM_001270507.2:c.235del NP_001257436.1:p.Ser79fs NC_000006.12:137871459:AAA:AA p.(Ser79AlafsTer17) NC_000006.12:137871459:AAA:AA p.(Ser79AlafsTer17) NC_000006.12:137871461:A: Analogous +NM_001160227.2:c.278G>T NP_001153699.1:p.Arg93Leu NC_000015.10:44660595:C:A p.(Arg93Leu) NC_000015.10:44660595:C:A p.(Arg93Leu) NC_000015.10:44660595:C:A Identity +NM_003632.3:c.895A>T NP_003623.1:p.Thr299Ser NC_000017.11:42686135:A:T p.(Thr299Ser) NC_000017.11:42686135:A:T p.(Thr299Ser) NC_000017.11:42686135:A:T Identity +NM_001321118.1:c.507G>T NP_001308047.1:p.Gln169His NC_000002.12:130339140:C:A p.(Gln169His) NC_000002.12:130339140:C:A p.(Gln169His) NC_000002.12:130339140:C:A Identity +NM_000487.6:c.1492del NP_000478.3:p.Arg498fs NC_000022.11:50625182:GGGGGG:GGGGG p.(Arg498AlafsTer22) NC_000022.11:50625182:GGGGGG:GGGGG p.(Arg498AlafsTer22) NC_000022.11:50625182:G: Analogous +NM_001272003.2:c.1676A>C NP_001258932.1:p.Lys559Thr NC_000009.12:135770897:A:C p.(Lys559Thr) NC_000009.12:135770897:A:C p.(Lys559Thr) NC_000009.12:135770897:A:C Identity +NM_001105206.3:c.3050G>A NP_001098676.2:p.Ser1017Asn NC_000006.12:112139811:C:T p.(Ser1017Asn) NC_000006.12:112139811:C:T p.(Ser1017Asn) NC_000006.12:112139811:C:T Identity +NM_002633.3:c.119T>C NP_002624.2:p.Ile40Thr NC_000001.11:63593606:T:C p.(Ile40Thr) NC_000001.11:63593606:T:C p.(Ile40Thr) NC_000001.11:63593606:T:C Identity +NM_001099271.2:c.57_59del NP_001092741.1:p.Gly20del NC_000005.10:75712878:CCTC:C p.(Gly20del) NC_000005.10:75712878:CCTC:C p.(Gly20del) NC_000005.10:75712878:CCT: Identity +LRG_270t1:c.2854C>T LRG_270p1:p.His952Tyr NC_000015.10:34236742:G:A ERR:Data provider error: ValueError: Transcript LRG_270t1 not found ERR:Data provider error: ValueError: Transcript LRG_270t1 not found ERR:AlignmentMapper(tx_ac=LRG_270t1, alt_ac=LRG_270t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_270t1, alt_ac=LRG_270t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_270t1 not found +NM_000760.4:c.2306G>T NP_000751.1:p.Arg769Leu NC_000001.11:36466561:C:A p.(Arg769Leu) NC_000001.11:36466561:C:A p.(Arg769Leu) NC_000001.11:36466561:C:A Identity +NM_000784.4:c.692G>A NP_000775.1:p.Arg231Gln NC_000002.12:218812596:G:A p.(Arg231Gln) NC_000002.12:218812596:G:A p.(Arg231Gln) NC_000002.12:218812596:G:A Identity +NM_001413017.1:c.1619C>T NP_001399946.1:p.Ala540Val NC_000008.11:144514351:G:A p.(Ala540Val) NC_000008.11:144514351:G:A p.(Ala540Val) NC_000008.11:144514351:G:A Identity +NM_001185039.2:c.167G>A NP_001171968.1:p.Arg56Gln NC_000017.11:75960363:C:T p.(Arg56Gln) NC_000017.11:75960363:C:T p.(Arg56Gln) NC_000017.11:75960363:C:T Identity +NM_001025295.3:c.37C>T NP_001020466.1:p.Pro13Ser NC_000011.10:299453:G:A p.(Pro13Ser) NC_000011.10:299453:G:A p.(Pro13Ser) NC_000011.10:299453:G:A Identity +NM_002470.4:c.2531_2532inv NP_002461.2:p.Ala844Val NC_000017.11:10640145:TG:CA p.(Ala844Val) NC_000017.11:10640145:TG:CA p.(Ala844Val) ERR:SPDI Identity +NM_001283009.2:c.2616AGG[1] NP_001269938.1:p.Gly874del NC_000020.11:63691799:GAGGAGG:GAGG p.(Gly874del) NC_000020.11:63691800:A:AGG ERR:Parse ERR:Parse Identity +NM_002427.4:c.953C>T NP_002418.1:p.Ala318Val NC_000011.10:102949122:G:A p.(Ala318Val) NC_000011.10:102949122:G:A p.(Ala318Val) NC_000011.10:102949122:G:A Identity +NM_024652.6:c.2197G>A NP_078928.3:p.Val733Met NC_000015.10:101024931:G:A p.(Val733Met) NC_000015.10:101024931:G:A p.(Val733Met) NC_000015.10:101024931:G:A Identity +NM_000228.3:c.781C>G NP_000219.2:p.Pro261Ala NC_000001.11:209632623:G:C p.(Pro261Ala) NC_000001.11:209632623:G:C p.(Pro261Ala) NC_000001.11:209632623:G:C Identity +NM_014639.4:c.400G>C NP_055454.1:p.Glu134Gln NC_000005.10:95541306:C:G p.(Glu134Gln) NC_000005.10:95541306:C:G p.(Glu134Gln) NC_000005.10:95541306:C:G Identity +NM_003737.4:c.7777C>G NP_003728.1:p.Leu2593Val NC_000011.10:6623898:G:C p.(Leu2593Val) NC_000011.10:6623898:G:C p.(Leu2593Val) NC_000011.10:6623898:G:C Identity +NM_001365819.1:c.2086C>T NP_001352748.1:p.Arg696Trp NC_000022.11:50462602:G:A p.(Arg696Trp) NC_000022.11:50462602:G:A p.(Arg696Trp) NC_000022.11:50462602:G:A Identity +NM_014845.6:c.1012A>G NP_055660.1:p.Thr338Ala NC_000006.12:109743244:A:G p.(Thr338Ala) NC_000006.12:109743244:A:G p.(Thr338Ala) NC_000006.12:109743244:A:G Identity +NM_030780.5:c.859A>G NP_110407.2:p.Ile287Val NC_000008.11:103400499:T:C p.(Ile287Val) NC_000008.11:103400499:T:C p.(Ile287Val) NC_000008.11:103400499:T:C Identity +NM_001934.4:c.386T>A NP_001925.2:p.Leu129His NC_000017.11:49973821:T:A p.(Leu129His) NC_000017.11:49973821:T:A p.(Leu129His) NC_000017.11:49973821:T:A Identity +NM_001411127.1:c.4487_4488dup NP_001398056.1:p.Val1498Profs NC_000019.10:40394145:GGGGG:GGGGGGG p.(Val1498ProfsTer16) NC_000019.10:40394145:GGGGG:GGGGGGG p.(Val1498ProfsTer16) ERR:SPDI Analogous +NM_000124.4:c.2795A>G NP_000115.1:p.Tyr932Cys NC_000010.11:49472942:T:C p.(Tyr932Cys) NC_000010.11:49472942:T:C p.(Tyr932Cys) NC_000010.11:49472942:T:C Identity +NM_001348250.2:c.856C>G NP_001335179.1:p.Leu286Val NC_000003.12:11025778:C:G p.(Leu286Val) NC_000003.12:11025778:C:G p.(Leu286Val) NC_000003.12:11025778:C:G Identity +NM_001136536.5:c.572A>G NP_001130008.2:p.Gln191Arg NC_000004.12:36294837:A:G p.(Gln191Arg) NC_000004.12:36294837:A:G p.(Gln191Arg) NC_000004.12:36294837:A:G Identity +NM_005560.6:c.4316G>A NP_005551.3:p.Gly1439Asp NC_000020.11:62328974:C:T p.(Gly1439Asp) NC_000020.11:62328974:C:T p.(Gly1439Asp) NC_000020.11:62328974:C:T Identity +NM_001008389.3:c.1148C>T NP_001008390.1:p.Pro383Leu NC_000016.10:20346159:G:A p.(Pro383Leu) NC_000016.10:20346159:G:A p.(Pro383Leu) NC_000016.10:20346159:G:A Identity +NM_005245.4:c.2693G>A NP_005236.2:p.Arg898Lys NC_000004.12:186707134:C:T p.(Arg898Lys) NC_000004.12:186707134:C:T p.(Arg898Lys) NC_000004.12:186707134:C:T Identity +NM_001195226.2:c.397C>T NP_001182155.2:p.Pro133Ser NC_000022.11:18923125:G:A p.(Pro133Ser) NC_000022.11:18923125:G:A p.(Pro133Ser) NC_000022.11:18923125:G:A Identity +NM_003801.4:c.1105G>A NP_003792.1:p.Val369Ile NC_000008.11:144084815:G:A p.(Val369Ile) NC_000008.11:144084815:G:A p.(Val369Ile) NC_000008.11:144084815:G:A Identity +NM_000094.4:c.5609G>A NP_000085.1:p.Arg1870His NC_000003.12:48576766:C:T p.(Arg1870His) NC_000003.12:48576766:C:T p.(Arg1870His) NC_000003.12:48576766:C:T Identity +NM_001004334.4:c.2843T>A NP_001004334.3:p.Leu948Gln NC_000017.11:38330725:A:T p.(Leu948Gln) NC_000017.11:38330725:A:T p.(Leu948Gln) NC_000017.11:38330725:A:T Identity +NM_001364837.1:c.110G>A NP_001351766.1:p.Arg37His NC_000014.9:64400860:G:A p.(Arg37His) NC_000014.9:64400860:G:A p.(Arg37His) NC_000014.9:64400860:G:A Identity +NM_014875.3:c.659C>T NP_055690.1:p.Pro220Leu NC_000001.11:200618064:G:A p.(Pro220Leu) NC_000001.11:200618064:G:A p.(Pro220Leu) NC_000001.11:200618064:G:A Identity +NM_002772.3:c.1951A>C NP_002763.3:p.Lys651Gln NC_000021.9:18315226:T:G p.(Lys651Gln) NC_000021.9:18315226:T:G p.(Lys651Gln) NC_000021.9:18315226:T:G Identity +NM_000742.4:c.181C>T NP_000733.2:p.Arg61Trp NC_000008.11:27469873:G:A p.(Arg61Trp) NC_000008.11:27469873:G:A p.(Arg61Trp) NC_000008.11:27469873:G:A Identity +NM_006662.3:c.4196CTC[1] NP_006653.2:p.Pro1400del NC_000016.10:30723619:CTCCTC:CTC p.(Pro1400del) NC_000016.10:30723619:C:CTC ERR:Parse ERR:Parse Identity +NM_005045.4:c.9419T>G NP_005036.2:p.Met3140Arg NC_000007.14:103491976:A:C p.(Met3140Arg) NC_000007.14:103491976:A:C p.(Met3140Arg) NC_000007.14:103491976:A:C Identity +NM_004230.4:c.650G>A NP_004221.3:p.Arg217His NC_000019.10:10224255:C:T p.(Arg217His) NC_000019.10:10224255:C:T p.(Arg217His) NC_000019.10:10224255:C:T Identity +NM_001621.5:c.1565C>A NP_001612.1:p.Ser522Ter NC_000007.14:17339389:C:A p.(Ser522Ter) NC_000007.14:17339389:C:A p.(Ser522Ter) NC_000007.14:17339389:C:A Identity +NM_021942.6:c.3328C>G NP_068761.4:p.Arg1110Gly NC_000004.12:183708544:C:G p.(Arg1110Gly) NC_000004.12:183708544:C:G p.(Arg1110Gly) NC_000004.12:183708544:C:G Identity +NM_001367904.1:c.812G>A NP_001354833.1:p.Arg271His NC_000011.10:117524929:C:T p.(Arg271His) NC_000011.10:117524929:C:T p.(Arg271His) NC_000011.10:117524929:C:T Identity +NM_000411.8:c.1190A>T NP_000402.3:p.Asp397Val NC_000021.9:36897120:T:A p.(Asp397Val) NC_000021.9:36897120:T:A p.(Asp397Val) NC_000021.9:36897120:T:A Identity +NM_002334.4:c.3613C>T NP_002325.2:p.Leu1205Phe NC_000011.10:46875889:G:A p.(Leu1205Phe) NC_000011.10:46875889:G:A p.(Leu1205Phe) NC_000011.10:46875889:G:A Identity +NM_001347827.2:c.1204G>T NP_001334756.1:p.Val402Leu NC_000004.12:54270714:G:T p.(Val402Leu) NC_000004.12:54270714:G:T p.(Val402Leu) NC_000004.12:54270714:G:T Identity +NM_000155.4:c.465_474dup NP_000146.2:p.Glu159fs NC_000009.12:34647918:CTCAGTCACA:CTCAGTCACACTCAGTCACA p.(Glu159LeufsTer17) NC_000009.12:34647918:CTCAGTCACA:CTCAGTCACACTCAGTCACA p.(Glu159LeufsTer17) ERR:SPDI Analogous +NM_001002019.3:c.32G>A NP_001002019.1:p.Gly11Glu NC_000012.12:131929947:G:A p.(Gly11Glu) NC_000012.12:131929947:G:A p.(Gly11Glu) NC_000012.12:131929947:G:A Identity +NM_001256850.1:c.102073C>A NP_001243779.1:p.Gln34025Lys NC_000002.12:178528754:G:T p.(Gln34025Lys) NC_000002.12:178528754:G:T p.(Gln34025Lys) NC_000002.12:178528754:G:T Identity +NM_000083.3:c.532T>C NP_000074.3:p.Phe178Leu NC_000007.14:143321462:T:C p.(Phe178Leu) NC_000007.14:143321462:T:C p.(Phe178Leu) NC_000007.14:143321462:T:C Identity +NM_001166496.2:c.590C>G NP_001159968.1:p.Pro197Arg NC_000001.11:112917815:G:C p.(Pro197Arg) NC_000001.11:112917815:G:C p.(Pro197Arg) NC_000001.11:112917815:G:C Identity +NM_001083946.2:c.187A>G NP_001077415.1:p.Met63Val NC_000002.12:37232236:A:G p.(Met63Val) NC_000002.12:37232236:A:G p.(Met63Val) NC_000002.12:37232236:A:G Identity +NM_000102.4:c.1492G>T NP_000093.1:p.Ala498Ser NC_000010.11:102830736:C:A p.(Ala498Ser) NC_000010.11:102830736:C:A p.(Ala498Ser) NC_000010.11:102830736:C:A Identity +NM_001142301.1:c.1351G>T NP_001135773.1:p.Gly451Cys NC_000008.11:93793215:G:T p.(Gly451Cys) NC_000008.11:93793215:G:T p.(Gly451Cys) NC_000008.11:93793215:G:T Identity +NM_000109.4:c.9445A>G NP_000100.3:p.Ile3149Val NC_000023.11:31209591:T:C p.(Ile3149Val) NC_000023.11:31209591:T:C p.(Ile3149Val) NC_000023.11:31209591:T:C Identity +NM_199242.3:c.3204G>C NP_954712.1:p.Gln1068His NC_000017.11:75828033:C:G p.(Gln1068His) NC_000017.11:75828033:C:G p.(Gln1068His) NC_000017.11:75828033:C:G Identity +NM_002334.4:c.3345T>A NP_002325.2:p.His1115Gln NC_000011.10:46876762:A:T p.(His1115Gln) NC_000011.10:46876762:A:T p.(His1115Gln) NC_000011.10:46876762:A:T Identity +NM_004553.6:c.55C>G NP_004544.1:p.Arg19Gly NC_000005.10:1801471:C:G p.(Arg19Gly) NC_000005.10:1801471:C:G p.(Arg19Gly) NC_000005.10:1801471:C:G Identity +NM_000718.4:c.2699C>T NP_000709.1:p.Pro900Leu NC_000009.12:138023441:C:T p.(Pro900Leu) NC_000009.12:138023441:C:T p.(Pro900Leu) NC_000009.12:138023441:C:T Identity +NM_001032282.4:c.652T>C NP_001027453.1:p.Tyr218His NC_000008.11:102651646:A:G p.(Tyr218His) NC_000008.11:102651646:A:G p.(Tyr218His) NC_000008.11:102651646:A:G Identity +NM_001081.4:c.2322A>C NP_001072.2:p.Leu774Phe NC_000010.11:17071950:T:G p.(Leu774Phe) NC_000010.11:17071950:T:G p.(Leu774Phe) NC_000010.11:17071950:T:G Identity +NM_001291415.2:c.1762A>C NP_001278344.1:p.Asn588His NC_000023.11:45063499:A:C p.(Asn588His) NC_000023.11:45063499:A:C p.(Asn588His) NC_000023.11:45063499:A:C Identity +NM_001386500.1:c.5967T>G NP_001373429.1:p.Asn1989Lys NC_000001.11:11128069:A:C p.(Asn1989Lys) NC_000001.11:11128069:A:C p.(Asn1989Lys) NC_000001.11:11128069:A:C Identity +NM_001060.6:c.196T>C NP_001051.1:p.Phe66Leu NC_000019.10:3600438:A:G p.(Phe66Leu) NC_000019.10:3600438:A:G p.(Phe66Leu) NC_000019.10:3600438:A:G Identity +NM_000941.2:c.1723G>A NP_000932.3:p.Asp575Asn NC_000007.14:75985975:G:A ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:Data provider error: ValueError: Transcript NM_000941.2 not found ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.2, alt_ac=NM_000941.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.2 not found +NM_020338.4:c.3123C>A NP_065071.1:p.Asp1041Glu NC_000010.11:79312667:C:A p.(Asp1041Glu) NC_000010.11:79312667:C:A p.(Asp1041Glu) NC_000010.11:79312667:C:A Identity +NM_001113178.3:c.349G>A NP_001106649.1:p.Asp117Asn NC_000016.10:69647122:G:A p.(Asp117Asn) NC_000016.10:69647122:G:A p.(Asp117Asn) NC_000016.10:69647122:G:A Identity +NM_052854.4:c.1452G>C NP_443086.1:p.Glu484Asp NC_000011.10:46320456:G:C p.(Glu484Asp) NC_000011.10:46320456:G:C p.(Glu484Asp) NC_000011.10:46320456:G:C Identity +NM_001365819.1:c.3934G>A NP_001352748.1:p.Gly1312Arg NC_000022.11:50456568:C:T p.(Gly1312Arg) NC_000022.11:50456568:C:T p.(Gly1312Arg) NC_000022.11:50456568:C:T Identity +NM_016580.4:c.418C>T NP_057664.1:p.Gln140Ter NC_000005.10:141957433:G:A p.(Gln140Ter) NC_000005.10:141957433:G:A p.(Gln140Ter) NC_000005.10:141957433:G:A Identity +NM_002641.4:c.586G>A NP_002632.1:p.Ala196Thr NC_000023.11:15331344:C:T p.(Ala196Thr) NC_000023.11:15331344:C:T p.(Ala196Thr) NC_000023.11:15331344:C:T Identity +NM_001346850.2:c.391G>A NP_001333779.1:p.Asp131Asn NC_000012.12:7066537:G:A p.(Asp131Asn) NC_000012.12:7066537:G:A p.(Asp131Asn) NC_000012.12:7066537:G:A Identity +NM_001127244.2:c.2203G>A NP_001120716.1:p.Ala735Thr NC_000009.12:128916140:G:A p.(Ala735Thr) NC_000009.12:128916140:G:A p.(Ala735Thr) NC_000009.12:128916140:G:A Identity +NM_174916.3:c.1262T>C NP_777576.1:p.Met421Thr NC_000015.10:43056362:A:G p.(Met421Thr) NC_000015.10:43056362:A:G p.(Met421Thr) NC_000015.10:43056362:A:G Identity +NM_002661.5:c.2284C>T NP_002652.2:p.Pro762Ser NC_000016.10:81921245:C:T p.(Pro762Ser) NC_000016.10:81921245:C:T p.(Pro762Ser) NC_000016.10:81921245:C:T Identity +NM_001178129.2:c.314G>A NP_001171600.1:p.Arg105Lys NC_000007.14:83418445:C:T p.(Arg105Lys) NC_000007.14:83418445:C:T p.(Arg105Lys) NC_000007.14:83418445:C:T Identity +NM_001367830.1:c.1069C>G NP_001354759.1:p.Pro357Ala NC_000019.10:11243836:G:C p.(Pro357Ala) NC_000019.10:11243836:G:C p.(Pro357Ala) NC_000019.10:11243836:G:C Identity +NM_005908.4:c.1534G>T NP_005899.3:p.Glu512Ter NC_000004.12:102657851:C:A p.(Glu512Ter) NC_000004.12:102657851:C:A p.(Glu512Ter) NC_000004.12:102657851:C:A Identity +NM_001256850.1:c.99934G>T NP_001243779.1:p.Val33312Leu NC_000002.12:178531757:C:A p.(Val33312Leu) NC_000002.12:178531757:C:A p.(Val33312Leu) NC_000002.12:178531757:C:A Identity +NM_001276479.2:c.1798C>G NP_001263408.1:p.Gln600Glu NC_000019.10:5696076:G:C p.(Gln600Glu) NC_000019.10:5696076:G:C p.(Gln600Glu) NC_000019.10:5696076:G:C Identity +NM_213606.4:c.97A>G NP_998771.3:p.Lys33Glu NC_000010.11:89462481:T:C p.(Lys33Glu) NC_000010.11:89462481:T:C p.(Lys33Glu) NC_000010.11:89462481:T:C Identity +NM_004998.4:c.3235G>T NP_004989.2:p.Asp1079Tyr NC_000015.10:59138212:C:A p.(Asp1079Tyr) NC_000015.10:59138212:C:A p.(Asp1079Tyr) NC_000015.10:59138212:C:A Identity +NM_001282225.2:c.250A>G NP_001269154.1:p.Met84Val NC_000022.11:17209427:T:C p.(Met84Val) NC_000022.11:17209427:T:C p.(Met84Val) NC_000022.11:17209427:T:C Identity +NM_001256850.1:c.76358dup NP_001243779.1:p.His25453fs NC_000002.12:178564850:T:TT p.(His25453GlnfsTer2) NC_000002.12:178564850:T:TT p.(His25453GlnfsTer2) ERR:SPDI Analogous +NM_004171.4:c.17G>T NP_004162.2:p.Gly6Val NC_000011.10:35418949:C:A p.(Gly6Val) NC_000011.10:35418949:C:A p.(Gly6Val) NC_000011.10:35418949:C:A Identity +NM_001371986.1:c.2322C>A NP_001358915.1:p.Asn774Lys NC_000002.12:209820669:C:A p.(Asn774Lys) NC_000002.12:209820669:C:A p.(Asn774Lys) NC_000002.12:209820669:C:A Identity +NM_000217.3:c.727T>G NP_000208.2:p.Cys243Gly NC_000012.12:4912104:T:G p.(Cys243Gly) NC_000012.12:4912104:T:G p.(Cys243Gly) NC_000012.12:4912104:T:G Identity +NM_015180.6:c.13919A>G NP_055995.4:p.Asn4640Ser NC_000014.9:64128452:A:G p.(Asn4640Ser) NC_000014.9:64128452:A:G p.(Asn4640Ser) NC_000014.9:64128452:A:G Identity +NM_000156.6:c.692C>T NP_000147.1:p.Pro231Leu NC_000019.10:1397377:G:A p.(Pro231Leu) NC_000019.10:1397377:G:A p.(Pro231Leu) NC_000019.10:1397377:G:A Identity +NM_001353765.2:c.993A>G NP_001340694.1:p.Ile331Met NC_000002.12:29193889:T:C p.(Ile331Met) NC_000002.12:29193889:T:C p.(Ile331Met) NC_000002.12:29193889:T:C Identity +NM_001127218.3:c.1300A>G NP_001120690.1:p.Thr434Ala NC_000007.14:44114894:T:C p.(Thr434Ala) NC_000007.14:44114894:T:C p.(Thr434Ala) NC_000007.14:44114894:T:C Identity +NM_004946.3:c.4630G>A NP_004937.1:p.Ala1544Thr NC_000005.10:170067671:G:A p.(Ala1544Thr) NC_000005.10:170067671:G:A p.(Ala1544Thr) NC_000005.10:170067671:G:A Identity +NM_001407274.1:c.1142C>G NP_001394203.1:p.Ala381Gly NC_000003.12:14141730:C:G p.(Ala381Gly) NC_000003.12:14141730:C:G p.(Ala381Gly) NC_000003.12:14141730:C:G Identity +NM_001289905.2:c.2143G>C NP_001276834.1:p.Glu715Gln NC_000022.11:17109463:G:C p.(Glu715Gln) NC_000022.11:17109463:G:C p.(Glu715Gln) NC_000022.11:17109463:G:C Identity +NM_001042544.1:c.587G>C NP_001036009.1:p.Gly196Ala NC_000019.10:40605169:G:C p.(Gly196Ala) NC_000019.10:40605169:G:C p.(Gly196Ala) NC_000019.10:40605169:G:C Identity +NM_000299.4:c.604C>T NP_000290.2:p.Arg202Cys NC_000001.11:201313462:C:T p.(Arg202Cys) NC_000001.11:201313462:C:T p.(Arg202Cys) NC_000001.11:201313462:C:T Identity +NM_001278649.3:c.451A>G NP_001265578.1:p.Ile151Val NC_000020.11:62281109:A:G p.(Ile151Val) NC_000020.11:62281109:A:G p.(Ile151Val) NC_000020.11:62281109:A:G Identity +NM_002439.5:c.1428T>G NP_002430.3:p.Tyr476Ter NC_000005.10:80725539:T:G p.(Tyr476Ter) NC_000005.10:80725539:T:G p.(Tyr476Ter) NC_000005.10:80725539:T:G Identity +NM_001291285.3:c.2978C>T NP_001278214.1:p.Ser993Leu NC_000004.12:125319388:C:T p.(Ser993Leu) NC_000004.12:125319388:C:T p.(Ser993Leu) NC_000004.12:125319388:C:T Identity +NM_001377289.1:c.503G>A NP_001364218.1:p.Cys168Tyr NC_000006.12:70268858:C:T p.(Cys168Tyr) NC_000006.12:70268858:C:T p.(Cys168Tyr) NC_000006.12:70268858:C:T Identity +NM_001031696.4:c.1355G>A NP_001026866.1:p.Gly452Glu NC_000019.10:40378054:G:A p.(Gly452Glu) NC_000019.10:40378054:G:A p.(Gly452Glu) NC_000019.10:40378054:G:A Identity +NM_001378418.1:c.5824C>G NP_001365347.1:p.Pro1942Ala NC_000022.11:42168711:G:C p.(Pro1942Ala) NC_000022.11:42168711:G:C p.(Pro1942Ala) NC_000022.11:42168711:G:C Identity +NM_001351527.2:c.5893C>T NP_001338456.1:p.Pro1965Ser NC_000009.12:132296942:G:A p.(Pro1965Ser) NC_000009.12:132296942:G:A p.(Pro1965Ser) NC_000009.12:132296942:G:A Identity +NM_004387.4:c.739C>G NP_004378.1:p.Pro247Ala NC_000005.10:173232804:G:C p.(Pro247Ala) NC_000005.10:173232804:G:C p.(Pro247Ala) NC_000005.10:173232804:G:C Identity +NM_001040428.4:c.313A>G NP_001035518.1:p.Lys105Glu NC_000014.9:88426267:A:G p.(Lys105Glu) NC_000014.9:88426267:A:G p.(Lys105Glu) NC_000014.9:88426267:A:G Identity +NM_025114.4:c.2321C>G NP_079390.3:p.Ala774Gly NC_000012.12:88111247:G:C p.(Ala774Gly) NC_000012.12:88111247:G:C p.(Ala774Gly) NC_000012.12:88111247:G:C Identity +NM_001324281.3:c.703C>T NP_001311210.1:p.Arg235Trp NC_000007.14:2939909:G:A p.(Arg235Trp) NC_000007.14:2939909:G:A p.(Arg235Trp) NC_000007.14:2939909:G:A Identity +NM_001407571.1:c.3403G>A NP_001394500.1:p.Ala1135Thr NC_000017.11:43091914:C:T p.(Ala1135Thr) NC_000017.11:43091914:C:T p.(Ala1135Thr) NC_000017.11:43091914:C:T Identity +NM_015346.4:c.3917C>T NP_056161.2:p.Ala1306Val NC_000014.9:67783234:G:A p.(Ala1306Val) NC_000014.9:67783234:G:A p.(Ala1306Val) NC_000014.9:67783234:G:A Identity +NM_022726.4:c.578T>C NP_073563.1:p.Val193Ala NC_000006.12:79919510:A:G p.(Val193Ala) NC_000006.12:79919510:A:G p.(Val193Ala) NC_000006.12:79919510:A:G Identity +NM_018136.5:c.5137C>T NP_060606.3:p.Arg1713Cys NC_000001.11:197104113:G:A p.(Arg1713Cys) NC_000001.11:197104113:G:A p.(Arg1713Cys) NC_000001.11:197104113:G:A Identity +NM_018136.5:c.8002G>A NP_060606.3:p.Ala2668Thr NC_000001.11:197101248:C:T p.(Ala2668Thr) NC_000001.11:197101248:C:T p.(Ala2668Thr) NC_000001.11:197101248:C:T Identity +NM_000190.4:c.29C>T NP_000181.2:p.Thr10Met NC_000011.10:119085061:C:T p.(Thr10Met) NC_000011.10:119085061:C:T p.(Thr10Met) NC_000011.10:119085061:C:T Identity +NM_001277115.2:c.10372A>G NP_001264044.1:p.Met3458Val NC_000007.14:21816505:A:G p.(Met3458Val) NC_000007.14:21816505:A:G p.(Met3458Val) NC_000007.14:21816505:A:G Identity +NM_006734.4:c.2248C>A NP_006725.3:p.Leu750Ile NC_000006.12:142772490:G:T p.(Leu750Ile) NC_000006.12:142772490:G:T p.(Leu750Ile) NC_000006.12:142772490:G:T Identity +NM_001353591.2:c.227T>C NP_001340520.1:p.Leu76Ser NC_000014.9:74299605:A:G p.(Leu76Ser) NC_000014.9:74299605:A:G p.(Leu76Ser) NC_000014.9:74299605:A:G Identity +NM_001126131.2:c.1400C>A NP_001119603.1:p.Ala467Asp NC_000015.10:89327199:G:T p.(Ala467Asp) NC_000015.10:89327199:G:T p.(Ala467Asp) NC_000015.10:89327199:G:T Identity +NM_006739.4:c.672C>G NP_006730.2:p.Phe224Leu NC_000022.11:35408482:C:G p.(Phe224Leu) NC_000022.11:35408482:C:G p.(Phe224Leu) NC_000022.11:35408482:C:G Identity +NM_020754.4:c.1267G>C NP_065805.2:p.Ala423Pro NC_000003.12:119402018:G:C p.(Ala423Pro) NC_000003.12:119402018:G:C p.(Ala423Pro) NC_000003.12:119402018:G:C Identity +NM_005045.4:c.10038C>A NP_005036.2:p.Asn3346Lys NC_000007.14:103483795:G:T p.(Asn3346Lys) NC_000007.14:103483795:G:T p.(Asn3346Lys) NC_000007.14:103483795:G:T Identity +NM_001291860.2:c.403G>A NP_001278789.1:p.Val135Met NC_000001.11:21890436:C:T p.(Val135Met) NC_000001.11:21890436:C:T p.(Val135Met) NC_000001.11:21890436:C:T Identity +NM_000787.4:c.1805G>A NP_000778.3:p.Arg602Gln NC_000009.12:133658397:G:A p.(Arg602Gln) NC_000009.12:133658397:G:A p.(Arg602Gln) NC_000009.12:133658397:G:A Identity +NM_003047.5:c.640G>A NP_003038.2:p.Val214Met NC_000001.11:27113998:C:T p.(Val214Met) NC_000001.11:27113998:C:T p.(Val214Met) NC_000001.11:27113998:C:T Identity +NM_001031737.3:c.477C>G NP_001026907.2:p.His159Gln NC_000016.10:725251:G:C p.(His159Gln) NC_000016.10:725251:G:C p.(His159Gln) NC_000016.10:725251:G:C Identity +NM_000721.4:c.6302C>T NP_000712.2:p.Pro2101Leu NC_000001.11:181798322:C:T p.(Pro2101Leu) NC_000001.11:181798322:C:T p.(Pro2101Leu) NC_000001.11:181798322:C:T Identity +NM_030582.4:c.468del NP_085059.2:p.Pro157fs NC_000021.9:45455995:GGG:GG p.(Pro157LeufsTer147) NC_000021.9:45455995:GGG:GG p.(Pro157LeufsTer147) NC_000021.9:45455997:G: Analogous +NM_025114.4:c.4832C>T NP_079390.3:p.Pro1611Leu NC_000012.12:88083210:G:A p.(Pro1611Leu) NC_000012.12:88083210:G:A p.(Pro1611Leu) NC_000012.12:88083210:G:A Identity +NM_001159508.3:c.48G>C NP_001152980.2:p.Arg16Ser NC_000015.10:40405874:G:C p.(Arg16Ser) NC_000015.10:40405874:G:C p.(Arg16Ser) NC_000015.10:40405874:G:C Identity +NM_001083116.3:c.938A>T NP_001076585.1:p.Asp313Val NC_000010.11:70598782:T:A p.(Asp313Val) NC_000010.11:70598782:T:A p.(Asp313Val) NC_000010.11:70598782:T:A Identity +NM_001408.3:c.8642G>A NP_001399.1:p.Arg2881His NC_000001.11:109273567:G:A p.(Arg2881His) NC_000001.11:109273567:G:A p.(Arg2881His) NC_000001.11:109273567:G:A Identity +NM_006734.4:c.7105A>G NP_006725.3:p.Ile2369Val NC_000006.12:142753342:T:C p.(Ile2369Val) NC_000006.12:142753342:T:C p.(Ile2369Val) NC_000006.12:142753342:T:C Identity +NM_001193416.3:c.509C>T NP_001180345.1:p.Ala170Val NC_000023.11:41342801:C:T p.(Ala170Val) NC_000023.11:41342801:C:T p.(Ala170Val) NC_000023.11:41342801:C:T Identity +NM_001278918.2:c.1718G>C NP_001265847.1:p.Gly573Ala NC_000007.14:74063686:G:C p.(Gly573Ala) NC_000007.14:74063686:G:C p.(Gly573Ala) NC_000007.14:74063686:G:C Identity +NM_001197330.2:c.244A>G NP_001184259.1:p.Ile82Val NC_000014.9:49679725:T:C p.(Ile82Val) NC_000014.9:49679725:T:C p.(Ile82Val) NC_000014.9:49679725:T:C Identity +NM_001308007.2:c.11G>T NP_001294936.1:p.Arg4Met NC_000011.10:86245239:G:T p.(Arg4Met) NC_000011.10:86245239:G:T p.(Arg4Met) NC_000011.10:86245239:G:T Identity +NM_001318889.2:c.1166G>A NP_001305818.1:p.Ser389Asn NC_000003.12:111606777:G:A p.(Ser389Asn) NC_000003.12:111606777:G:A p.(Ser389Asn) NC_000003.12:111606777:G:A Identity +NM_001281302.2:c.297A>G NP_001268231.1:p.Ile99Met NC_000005.10:74759373:T:C p.(Ile99Met) NC_000005.10:74759373:T:C p.(Ile99Met) NC_000005.10:74759373:T:C Identity +NM_001330504.2:c.469G>T NP_001317433.1:p.Gly157Trp NC_000016.10:5078817:G:T p.(Gly157Trp) NC_000016.10:5078817:G:T p.(Gly157Trp) NC_000016.10:5078817:G:T Identity +NM_001374299.1:c.2057G>A NP_001361228.1:p.Arg686Lys NC_000009.12:92256759:C:T p.(Arg686Lys) NC_000009.12:92256759:C:T p.(Arg686Lys) NC_000009.12:92256759:C:T Identity +NM_004525.3:c.6758A>C NP_004516.2:p.Asp2253Ala NC_000002.12:169206961:T:G p.(Asp2253Ala) NC_000002.12:169206961:T:G p.(Asp2253Ala) NC_000002.12:169206961:T:G Identity +NM_002635.4:c.103G>C NP_002626.1:p.Gly35Arg NC_000012.12:98594080:G:C p.(Gly35Arg) NC_000012.12:98594080:G:C p.(Gly35Arg) NC_000012.12:98594080:G:C Identity +NM_001321431.2:c.2998G>A NP_001308360.1:p.Gly1000Ser NC_000019.10:8123547:C:T p.(Gly1000Ser) NC_000019.10:8123547:C:T p.(Gly1000Ser) NC_000019.10:8123547:C:T Identity +NM_001411127.1:c.3909dup NP_001398056.1:p.Val1305Cysfs NC_000019.10:40394725:CCC:CCCC p.(Val1305CysfsTer3) NC_000019.10:40394725:CCC:CCCC p.(Val1305CysfsTer3) ERR:SPDI Analogous +NM_015346.4:c.4061G>A NP_056161.2:p.Arg1354Gln NC_000014.9:67783090:C:T p.(Arg1354Gln) NC_000014.9:67783090:C:T p.(Arg1354Gln) NC_000014.9:67783090:C:T Identity +NM_006019.4:c.484C>T NP_006010.2:p.His162Tyr NC_000011.10:68043011:C:T p.(His162Tyr) NC_000011.10:68043011:C:T p.(His162Tyr) NC_000011.10:68043011:C:T Identity +NM_001852.4:c.1824A>C NP_001843.1:p.Glu608Asp NC_000001.11:40301857:T:G p.(Glu608Asp) NC_000001.11:40301857:T:G p.(Glu608Asp) NC_000001.11:40301857:T:G Identity +NM_025077.4:c.1097C>T NP_079353.3:p.Pro366Leu NC_000001.11:45343265:C:T p.(Pro366Leu) NC_000001.11:45343265:C:T p.(Pro366Leu) NC_000001.11:45343265:C:T Identity +NM_000109.4:c.7108del NP_000100.3:p.Asp2370fs NC_000023.11:31836785:CC:C p.(Asp2370MetfsTer22) NC_000023.11:31836785:CC:C p.(Asp2370MetfsTer22) NC_000023.11:31836785:C: Analogous +NM_001320458.2:c.454G>A NP_001307387.1:p.Glu152Lys NC_000017.11:46875219:G:A p.(Glu152Lys) NC_000017.11:46875219:G:A p.(Glu152Lys) NC_000017.11:46875219:G:A Identity +NM_001023570.4:c.1498G>A NP_001018864.2:p.Glu500Lys NC_000003.12:121772625:C:T p.(Glu500Lys) NC_000003.12:121772625:C:T p.(Glu500Lys) NC_000003.12:121772625:C:T Identity +NM_000094.4:c.4406dup NP_000085.1:p.Arg1470fs NC_000003.12:48583423:GGG:GGGG p.(Arg1470ThrfsTer12) NC_000003.12:48583423:GGG:GGGG p.(Arg1470ThrfsTer12) ERR:SPDI Analogous +NM_001141973.3:c.1336C>T NP_001135445.1:p.Arg446Trp NC_000001.11:16996255:G:A p.(Arg446Trp) NC_000001.11:16996255:G:A p.(Arg446Trp) NC_000001.11:16996255:G:A Identity +NM_001144951.2:c.28C>G NP_001138423.1:p.Arg10Gly NC_000003.12:52290369:C:G p.(Arg10Gly) NC_000003.12:52290369:C:G p.(Arg10Gly) NC_000003.12:52290369:C:G Identity +NM_015202.5:c.931A>T NP_056017.4:p.Met311Leu NC_000016.10:27681520:A:T p.(Met311Leu) NC_000016.10:27681520:A:T p.(Met311Leu) NC_000016.10:27681520:A:T Identity +NM_001098623.2:c.23884C>T NP_001092093.2:p.His7962Tyr NC_000001.11:228378771:C:T p.(His7962Tyr) NC_000001.11:228378771:C:T p.(His7962Tyr) NC_000001.11:228378771:C:T Identity +NM_001105243.2:c.1823C>T NP_001098713.1:p.Thr608Ile NC_000023.11:100406774:G:A p.(Thr608Ile) NC_000023.11:100406774:G:A p.(Thr608Ile) NC_000023.11:100406774:G:A Identity +NM_006929.5:c.3550G>A NP_008860.4:p.Glu1184Lys NC_000006.12:31969523:G:A p.(Glu1184Lys) NC_000006.12:31969523:G:A p.(Glu1184Lys) NC_000006.12:31969523:G:A Identity +NM_000124.4:c.2744G>A NP_000115.1:p.Arg915Gln NC_000010.11:49472993:C:T p.(Arg915Gln) NC_000010.11:49472993:C:T p.(Arg915Gln) NC_000010.11:49472993:C:T Identity +NM_001083908.2:c.1856C>T NP_001077377.1:p.Ser619Phe NC_000014.9:49633293:G:A p.(Ser619Phe) NC_000014.9:49633293:G:A p.(Ser619Phe) NC_000014.9:49633293:G:A Identity +NM_001164098.2:c.2585A>G NP_001157570.1:p.Gln862Arg NC_000005.10:83520890:A:G p.(Gln862Arg) NC_000005.10:83520890:A:G p.(Gln862Arg) NC_000005.10:83520890:A:G Identity +NM_000076.2:c.68T>G NP_000067.1:p.Val23Gly NC_000011.10:2885421:A:C p.(Val23Gly) NC_000011.10:2885421:A:C p.(Val23Gly) NC_000011.10:2885421:A:C Identity +NM_001256182.2:c.1079C>T NP_001243111.1:p.Pro360Leu NC_000016.10:89285462:G:A p.(Pro360Leu) NC_000016.10:89285462:G:A p.(Pro360Leu) NC_000016.10:89285462:G:A Identity +NM_033071.5:c.10770G>C NP_149062.2:p.Gln3590His NC_000006.12:152354835:C:G p.(Gln3590His) NC_000006.12:152354835:C:G p.(Gln3590His) NC_000006.12:152354835:C:G Identity +NM_001080114.2:c.1537C>A NP_001073583.1:p.His513Asn NC_000010.11:86718735:C:A p.(His513Asn) NC_000010.11:86718735:C:A p.(His513Asn) NC_000010.11:86718735:C:A Identity +NM_001010867.4:c.245G>C NP_001010867.1:p.Ser82Thr NC_000001.11:228166060:G:C p.(Ser82Thr) NC_000001.11:228166060:G:C p.(Ser82Thr) NC_000001.11:228166060:G:C Identity +NM_001353765.2:c.956C>T NP_001340694.1:p.Thr319Ile NC_000002.12:29196773:G:A p.(Thr319Ile) NC_000002.12:29196773:G:A p.(Thr319Ile) NC_000002.12:29196773:G:A Identity +NM_001190458.2:c.5902C>G NP_001177387.1:p.Leu1968Val NC_000009.12:463649:C:G p.(Leu1968Val) NC_000009.12:463649:C:G p.(Leu1968Val) NC_000009.12:463649:C:G Identity +NM_007055.4:c.1127G>A NP_008986.2:p.Arg376Gln NC_000010.11:78021603:C:T p.(Arg376Gln) NC_000010.11:78021603:C:T p.(Arg376Gln) NC_000010.11:78021603:C:T Identity +NM_001271999.2:c.502A>G NP_001258928.1:p.Ser168Gly NC_000001.11:62648431:T:C p.(Ser168Gly) NC_000001.11:62648431:T:C p.(Ser168Gly) NC_000001.11:62648431:T:C Identity +NM_080473.5:c.857G>C NP_536721.1:p.Ser286Thr NC_000020.11:62465889:C:G p.(Ser286Thr) NC_000020.11:62465889:C:G p.(Ser286Thr) NC_000020.11:62465889:C:G Identity +NM_001303458.3:c.425G>A NP_001290387.1:p.Arg142Gln NC_000020.11:43605012:G:A p.(Arg142Gln) NC_000020.11:43605012:G:A p.(Arg142Gln) NC_000020.11:43605012:G:A Identity +NM_015202.5:c.1457A>G NP_056017.4:p.Asn486Ser NC_000016.10:27708771:A:G p.(Asn486Ser) NC_000016.10:27708771:A:G p.(Asn486Ser) NC_000016.10:27708771:A:G Identity +NM_001286577.2:c.181G>C NP_001273506.1:p.Val61Leu NC_000011.10:74168487:C:G p.(Val61Leu) NC_000011.10:74168487:C:G p.(Val61Leu) NC_000011.10:74168487:C:G Identity +NM_001318245.2:c.5235G>C NP_001305174.1:p.Glu1745Asp NC_000022.11:25908404:G:C p.(Glu1745Asp) NC_000022.11:25908404:G:C p.(Glu1745Asp) NC_000022.11:25908404:G:C Identity +NM_001304418.3:c.116T>C NP_001291347.1:p.Met39Thr NC_000003.12:69122270:A:G p.(Met39Thr) NC_000003.12:69122270:A:G p.(Met39Thr) NC_000003.12:69122270:A:G Identity +NM_002049.4:c.757C>T NP_002040.1:p.Arg253Trp NC_000023.11:48793183:C:T p.(Arg253Trp) NC_000023.11:48793183:C:T p.(Arg253Trp) NC_000023.11:48793183:C:T Identity +NM_001384732.1:c.8581G>A NP_001371661.1:p.Asp2861Asn NC_000005.10:37142360:C:T p.(Asp2861Asn) NC_000005.10:37142360:C:T p.(Asp2861Asn) NC_000005.10:37142360:C:T Identity +NM_000069.3:c.1873A>G NP_000060.2:p.Met625Val NC_000001.11:201075569:T:C p.(Met625Val) NC_000001.11:201075569:T:C p.(Met625Val) NC_000001.11:201075569:T:C Identity +NM_022726.4:c.181T>C NP_073563.1:p.Trp61Arg NC_000006.12:79926300:A:G p.(Trp61Arg) NC_000006.12:79926300:A:G p.(Trp61Arg) NC_000006.12:79926300:A:G Identity +NM_000503.6:c.218G>A NP_000494.2:p.Ser73Asn NC_000008.11:71322252:C:T p.(Ser73Asn) NC_000008.11:71322252:C:T p.(Ser73Asn) NC_000008.11:71322252:C:T Identity +NM_173551.5:c.733G>T NP_775822.3:p.Val245Leu NC_000009.12:98790232:C:A p.(Val245Leu) NC_000009.12:98790232:C:A p.(Val245Leu) NC_000009.12:98790232:C:A Identity +NM_001377486.1:c.462C>A NP_001364415.1:p.Phe154Leu NC_000016.10:81363807:C:A p.(Phe154Leu) NC_000016.10:81363807:C:A p.(Phe154Leu) NC_000016.10:81363807:C:A Identity +NM_001004426.3:c.565G>A NP_001004426.1:p.Val189Ile NC_000022.11:38143148:C:T p.(Val189Ile) NC_000022.11:38143148:C:T p.(Val189Ile) NC_000022.11:38143148:C:T Identity +NM_001278055.2:c.3673C>A NP_001264984.1:p.Pro1225Thr NC_000013.11:23339761:G:T p.(Pro1225Thr) NC_000013.11:23339761:G:T p.(Pro1225Thr) NC_000013.11:23339761:G:T Identity +NM_000383.4:c.181G>A NP_000374.1:p.Ala61Thr NC_000021.9:44286604:G:A p.(Ala61Thr) NC_000021.9:44286604:G:A p.(Ala61Thr) NC_000021.9:44286604:G:A Identity +NM_001080463.2:c.5021C>G NP_001073932.1:p.Thr1674Ser NC_000011.10:103170159:C:G p.(Thr1674Ser) NC_000011.10:103170159:C:G p.(Thr1674Ser) NC_000011.10:103170159:C:G Identity +NM_022166.4:c.2272G>C NP_071449.1:p.Gly758Arg NC_000016.10:17117930:C:G p.(Gly758Arg) NC_000016.10:17117930:C:G p.(Gly758Arg) NC_000016.10:17117930:C:G Identity +NM_001160708.2:c.922G>C NP_001154180.1:p.Gly308Arg NC_000012.12:106410954:G:C p.(Gly308Arg) NC_000012.12:106410954:G:C p.(Gly308Arg) NC_000012.12:106410954:G:C Identity +NM_020435.4:c.133G>C NP_065168.2:p.Ala45Pro NC_000001.11:228157890:G:C p.(Ala45Pro) NC_000001.11:228157890:G:C p.(Ala45Pro) NC_000001.11:228157890:G:C Identity +NM_004998.4:c.610C>A NP_004989.2:p.Pro204Thr NC_000015.10:59227490:G:T p.(Pro204Thr) NC_000015.10:59227490:G:T p.(Pro204Thr) NC_000015.10:59227490:G:T Identity +NM_016580.4:c.2657C>T NP_057664.1:p.Pro886Leu NC_000005.10:141955194:G:A p.(Pro886Leu) NC_000005.10:141955194:G:A p.(Pro886Leu) NC_000005.10:141955194:G:A Identity +NM_001354609.2:c.1208del NP_001341538.1:p.Pro403fs NC_000007.14:140783126:GGGGGGG:GGGGGG p.(Pro403LeufsTer8) NC_000007.14:140783126:GGGGGGG:GGGGGG p.(Pro403LeufsTer8) NC_000007.14:140783126:G: Analogous +NM_016616.5:c.1124T>C NP_057700.3:p.Ile375Thr NC_000007.14:37884431:T:C p.(Ile375Thr) NC_000007.14:37884431:T:C p.(Ile375Thr) NC_000007.14:37884431:T:C Identity +NM_001190983.2:c.502G>A NP_001177912.1:p.Gly168Arg NC_000016.10:19078119:G:A p.(Gly168Arg) NC_000016.10:19078119:G:A p.(Gly168Arg) NC_000016.10:19078119:G:A Identity +NM_001352600.2:c.1697C>T NP_001339529.1:p.Pro566Leu NC_000013.11:108209571:G:A p.(Pro566Leu) NC_000013.11:108209571:G:A p.(Pro566Leu) NC_000013.11:108209571:G:A Identity +NM_001351059.2:c.1581C>G NP_001337988.1:p.Phe527Leu NC_000011.10:68050800:C:G p.(Phe527Leu) NC_000011.10:68050800:C:G p.(Phe527Leu) NC_000011.10:68050800:C:G Identity +NM_001256442.2:c.344G>A NP_001243371.1:p.Ser115Asn NC_000016.10:29813397:G:A p.(Ser115Asn) NC_000016.10:29813397:G:A p.(Ser115Asn) NC_000016.10:29813397:G:A Identity +NM_017570.5:c.3640C>T NP_060040.1:p.Arg1214Cys NC_000008.11:144051808:G:A p.(Arg1214Cys) NC_000008.11:144051808:G:A p.(Arg1214Cys) NC_000008.11:144051808:G:A Identity +NM_001369031.1:c.58G>A NP_001355960.1:p.Val20Ile NC_000023.11:63724662:C:T p.(Val20Ile) NC_000023.11:63724662:C:T p.(Val20Ile) NC_000023.11:63724662:C:T Identity +NM_001386339.1:c.2293A>G NP_001373268.1:p.Lys765Glu NC_000011.10:9856527:T:C p.(Lys765Glu) NC_000011.10:9856527:T:C p.(Lys765Glu) NC_000011.10:9856527:T:C Identity +NM_001378183.1:c.6043G>A NP_001365112.1:p.Val2015Met NC_000018.10:10704608:C:T p.(Val2015Met) NC_000018.10:10704608:C:T p.(Val2015Met) NC_000018.10:10704608:C:T Identity +NM_006739.4:c.413G>A NP_006730.2:p.Arg138His NC_000022.11:35403531:G:A p.(Arg138His) NC_000022.11:35403531:G:A p.(Arg138His) NC_000022.11:35403531:G:A Identity +NM_001037131.3:c.1856G>A NP_001032208.1:p.Arg619His NC_000002.12:236040805:G:A p.(Arg619His) NC_000002.12:236040805:G:A p.(Arg619His) NC_000002.12:236040805:G:A Identity +NM_001350234.2:c.1073T>C NP_001337163.1:p.Val358Ala NC_000001.11:9718745:T:C p.(Val358Ala) NC_000001.11:9718745:T:C p.(Val358Ala) NC_000001.11:9718745:T:C Identity +NM_004501.3:c.79del NP_004492.2:p.Asp27fs NC_000001.11:244864228:C: p.(Asp27ThrfsTer34) NC_000001.11:244864228:C: p.(Asp27ThrfsTer34) NC_000001.11:244864228:C: Analogous +NM_005189.3:c.992A>G NP_005180.1:p.His331Arg NC_000017.11:79784434:A:G p.(His331Arg) NC_000017.11:79784434:A:G p.(His331Arg) NC_000017.11:79784434:A:G Identity +NM_020884.7:c.3154C>T NP_065935.4:p.Arg1052Cys NC_000020.11:34996645:C:T p.(Arg1052Cys) NC_000020.11:34996645:C:T p.(Arg1052Cys) NC_000020.11:34996645:C:T Identity +NM_000414.4:c.1181T>C NP_000405.1:p.Ile394Thr NC_000005.10:119499524:T:C p.(Ile394Thr) NC_000005.10:119499524:T:C p.(Ile394Thr) NC_000005.10:119499524:T:C Identity +NM_013254.4:c.1412G>A NP_037386.1:p.Cys471Tyr NC_000012.12:64488557:G:A p.(Cys471Tyr) NC_000012.12:64488557:G:A p.(Cys471Tyr) NC_000012.12:64488557:G:A Identity +NM_001256324.2:c.6617_6618del NP_001243253.1:p.Ser2206fs NC_000017.11:50626420:CTCT:CT p.(Ser2206TyrfsTer20) NC_000017.11:50626420:CTCT:CT p.(Ser2206TyrfsTer20) NC_000017.11:50626422:CT: Analogous +NM_001165966.2:c.2684A>G NP_001159438.1:p.Gln895Arg NC_000017.11:6455470:T:C p.(Gln895Arg) NC_000017.11:6455470:T:C p.(Gln895Arg) NC_000017.11:6455470:T:C Identity +NM_000787.4:c.532C>T NP_000778.3:p.Arg178Trp NC_000009.12:133642251:C:T p.(Arg178Trp) NC_000009.12:133642251:C:T p.(Arg178Trp) NC_000009.12:133642251:C:T Identity +NM_001486.4:c.775C>T NP_001477.2:p.Arg259Trp NC_000002.12:27505741:C:T p.(Arg259Trp) NC_000002.12:27505741:C:T p.(Arg259Trp) NC_000002.12:27505741:C:T Identity +NM_001256267.2:c.172G>A NP_001243196.1:p.Asp58Asn NC_000010.11:68121609:G:A p.(Asp58Asn) NC_000010.11:68121609:G:A p.(Asp58Asn) NC_000010.11:68121609:G:A Identity +NM_014855.3:c.158C>T NP_055670.1:p.Ser53Leu NC_000007.14:4781290:C:T p.(Ser53Leu) NC_000007.14:4781290:C:T p.(Ser53Leu) NC_000007.14:4781290:C:T Identity +NM_001294332.2:c.533T>A NP_001281261.1:p.Met178Lys NC_000005.10:228239:T:A p.(Met178Lys) NC_000005.10:228239:T:A p.(Met178Lys) NC_000005.10:228239:T:A Identity +NM_001080463.2:c.1705G>C NP_001073932.1:p.Gly569Arg NC_000011.10:103125142:G:C p.(Gly569Arg) NC_000011.10:103125142:G:C p.(Gly569Arg) NC_000011.10:103125142:G:C Identity +NM_002471.4:c.3651G>C NP_002462.2:p.Gln1217His NC_000014.9:23390137:C:G p.(Gln1217His) NC_000014.9:23390137:C:G p.(Gln1217His) NC_000014.9:23390137:C:G Identity +NM_001286445.3:c.1738G>A NP_001273374.1:p.Asp580Asn NC_000006.12:24842980:C:T p.(Asp580Asn) NC_000006.12:24842980:C:T p.(Asp580Asn) NC_000006.12:24842980:C:T Identity +NM_001256468.2:c.2608C>T NP_001243397.1:p.Pro870Ser NC_000010.11:75022015:C:T p.(Pro870Ser) NC_000010.11:75022015:C:T p.(Pro870Ser) NC_000010.11:75022015:C:T Identity +NM_001277269.2:c.4666G>A NP_001264198.1:p.Gly1556Ser NC_000011.10:17609929:G:A p.(Gly1556Ser) NC_000011.10:17609929:G:A p.(Gly1556Ser) NC_000011.10:17609929:G:A Identity +NM_000168.6:c.3286G>A NP_000159.3:p.Val1096Met NC_000007.14:41965786:C:T p.(Val1096Met) NC_000007.14:41965786:C:T p.(Val1096Met) NC_000007.14:41965786:C:T Identity +NM_001293273.2:c.1695G>C NP_001280202.1:p.Met565Ile NC_000003.12:183017268:C:G p.(Met565Ile) NC_000003.12:183017268:C:G p.(Met565Ile) NC_000003.12:183017268:C:G Identity +NM_001849.4:c.670A>G NP_001840.3:p.Thr224Ala NC_000021.9:46112532:A:G p.(Thr224Ala) NC_000021.9:46112532:A:G p.(Thr224Ala) NC_000021.9:46112532:A:G Identity +NM_005876.5:c.457G>A NP_005867.3:p.Gly153Arg NC_000002.12:219444720:G:A p.(Gly153Arg) NC_000002.12:219444720:G:A p.(Gly153Arg) NC_000002.12:219444720:G:A Identity +NM_000541.5:c.201C>G NP_000532.2:p.Cys67Trp NC_000002.12:233320648:C:G p.(Cys67Trp) NC_000002.12:233320648:C:G p.(Cys67Trp) NC_000002.12:233320648:C:G Identity +NM_001320412.2:c.1076T>G NP_001307341.1:p.Val359Gly NC_000021.9:46145839:A:C p.(Val359Gly) NC_000021.9:46145839:A:C p.(Val359Gly) NC_000021.9:46145839:A:C Identity +NM_032444.4:c.867G>C NP_115820.2:p.Glu289Asp NC_000016.10:3602200:C:G p.(Glu289Asp) NC_000016.10:3602200:C:G p.(Glu289Asp) NC_000016.10:3602200:C:G Identity +NM_001282225.2:c.73G>A NP_001269154.1:p.Gly25Ser NC_000022.11:17209604:C:T p.(Gly25Ser) NC_000022.11:17209604:C:T p.(Gly25Ser) NC_000022.11:17209604:C:T Identity +NM_000553.6:c.1936T>A NP_000544.2:p.Cys646Ser NC_000008.11:31096804:T:A p.(Cys646Ser) NC_000008.11:31096804:T:A p.(Cys646Ser) NC_000008.11:31096804:T:A Identity +NM_001127231.3:c.536A>G NP_001120703.1:p.Gln179Arg NC_000007.14:70118144:A:G p.(Gln179Arg) NC_000007.14:70118144:A:G p.(Gln179Arg) NC_000007.14:70118144:A:G Identity +NM_015180.6:c.4370A>G NP_055995.4:p.Asp1457Gly NC_000014.9:64003302:A:G p.(Asp1457Gly) NC_000014.9:64003302:A:G p.(Asp1457Gly) NC_000014.9:64003302:A:G Identity +NM_001142281.2:c.1208G>C NP_001135753.1:p.Gly403Ala NC_000011.10:118600649:G:C p.(Gly403Ala) NC_000011.10:118600649:G:C p.(Gly403Ala) NC_000011.10:118600649:G:C Identity +NM_004104.5:c.3772G>A NP_004095.4:p.Gly1258Ser NC_000017.11:82085831:C:T p.(Gly1258Ser) NC_000017.11:82085831:C:T p.(Gly1258Ser) NC_000017.11:82085831:C:T Identity +NM_001145853.1:c.1801G>T NP_001139325.1:p.Val601Leu NC_000004.12:6301595:G:T p.(Val601Leu) NC_000004.12:6301595:G:T p.(Val601Leu) NC_000004.12:6301595:G:T Identity +NM_001184.4:c.7398G>A NP_001175.2:p.Met2466Ile NC_000003.12:142459062:C:T p.(Met2466Ile) NC_000003.12:142459062:C:T p.(Met2466Ile) NC_000003.12:142459062:C:T Identity +NM_000282.4:c.252G>T NP_000273.2:p.Lys84Asn NC_000013.11:100112012:G:T p.(Lys84Asn) NC_000013.11:100112012:G:T p.(Lys84Asn) NC_000013.11:100112012:G:T Identity +NM_003620.4:c.1009T>C NP_003611.1:p.Tyr337His NC_000017.11:60648073:T:C p.(Tyr337His) NC_000017.11:60648073:T:C p.(Tyr337His) NC_000017.11:60648073:T:C Identity +NM_000328.3:c.964G>A NP_000319.1:p.Gly322Ser NC_000023.11:38301341:C:T p.(Gly322Ser) NC_000023.11:38301341:C:T p.(Gly322Ser) NC_000023.11:38301341:C:T Identity +NM_001256182.2:c.868A>T NP_001243111.1:p.Thr290Ser NC_000016.10:89286062:T:A p.(Thr290Ser) NC_000016.10:89286062:T:A p.(Thr290Ser) NC_000016.10:89286062:T:A Identity +NM_000883.4:c.232A>T NP_000874.2:p.Met78Leu NC_000007.14:128409310:T:A p.(Met78Leu) NC_000007.14:128409310:T:A p.(Met78Leu) NC_000007.14:128409310:T:A Identity +NM_017570.5:c.1843C>T NP_060040.1:p.Arg615Trp NC_000008.11:144056618:G:A p.(Arg615Trp) NC_000008.11:144056618:G:A p.(Arg615Trp) NC_000008.11:144056618:G:A Identity +NM_000046.5:c.1211C>T NP_000037.2:p.Pro404Leu NC_000005.10:78839357:G:A p.(Pro404Leu) NC_000005.10:78839357:G:A p.(Pro404Leu) NC_000005.10:78839357:G:A Identity +NM_001257137.3:c.1402G>A NP_001244066.1:p.Asp468Asn NC_000020.11:34457457:G:A p.(Asp468Asn) NC_000020.11:34457457:G:A p.(Asp468Asn) NC_000020.11:34457457:G:A Identity +NM_001127207.2:c.2216A>C NP_001120679.1:p.Asp739Ala NC_000002.12:216468017:A:C p.(Asp739Ala) NC_000002.12:216468017:A:C p.(Asp739Ala) NC_000002.12:216468017:A:C Identity +NM_000719.7:c.182A>G NP_000710.5:p.Gln61Arg NC_000012.12:2115355:A:G p.(Gln61Arg) NC_000012.12:2115355:A:G p.(Gln61Arg) NC_000012.12:2115355:A:G Identity +NM_007055.4:c.2533A>G NP_008986.2:p.Thr845Ala NC_000010.11:78000063:T:C p.(Thr845Ala) NC_000010.11:78000063:T:C p.(Thr845Ala) NC_000010.11:78000063:T:C Identity +NM_001206927.2:c.4322A>G NP_001193856.1:p.Asn1441Ser NC_000006.12:38834597:A:G p.(Asn1441Ser) NC_000006.12:38834597:A:G p.(Asn1441Ser) NC_000006.12:38834597:A:G Identity +NM_001370136.1:c.1697C>T NP_001357065.1:p.Ala566Val NC_000010.11:74976033:C:T p.(Ala566Val) NC_000010.11:74976033:C:T p.(Ala566Val) NC_000010.11:74976033:C:T Identity +NM_001370503.1:c.302G>A NP_001357432.1:p.Arg101Gln NC_000007.14:56017352:C:T p.(Arg101Gln) NC_000007.14:56017352:C:T p.(Arg101Gln) NC_000007.14:56017352:C:T Identity +NM_014804.3:c.64A>G NP_055619.2:p.Arg22Gly NC_000017.11:6635039:T:C p.(Arg22Gly) NC_000017.11:6635039:T:C p.(Arg22Gly) NC_000017.11:6635039:T:C Identity +NM_001173466.2:c.1499G>A NP_001166937.1:p.Gly500Glu NC_000012.12:53307531:C:T p.(Gly500Glu) NC_000012.12:53307531:C:T p.(Gly500Glu) NC_000012.12:53307531:C:T Identity +NM_000718.4:c.2531G>T NP_000709.1:p.Gly844Val NC_000009.12:138023273:G:T p.(Gly844Val) NC_000009.12:138023273:G:T p.(Gly844Val) NC_000009.12:138023273:G:T Identity +NM_001366624.2:c.12G>C NP_001353553.1:p.Glu4Asp NC_000013.11:76992109:G:C p.(Glu4Asp) NC_000013.11:76992109:G:C p.(Glu4Asp) NC_000013.11:76992109:G:C Identity +NM_025179.4:c.3616C>T NP_079455.3:p.Leu1206Phe NC_000001.11:208045089:G:A p.(Leu1206Phe) NC_000001.11:208045089:G:A p.(Leu1206Phe) NC_000001.11:208045089:G:A Identity +NM_001260474.2:c.1018C>T NP_001247403.1:p.Arg340Cys NC_000021.9:42852278:G:A p.(Arg340Cys) NC_000021.9:42852278:G:A p.(Arg340Cys) NC_000021.9:42852278:G:A Identity +NM_173849.3:c.69G>C NP_776248.1:p.Leu23Phe NC_000014.9:94769946:C:G p.(Leu23Phe) NC_000014.9:94769946:C:G p.(Leu23Phe) NC_000014.9:94769946:C:G Identity +NM_001166136.2:c.975T>A NP_001159608.1:p.Asp325Glu NC_000004.12:5640768:A:T p.(Asp325Glu) NC_000004.12:5640768:A:T p.(Asp325Glu) NC_000004.12:5640768:A:T Identity +NM_000545.8:c.502C>T NP_000536.6:p.Arg168Cys NC_000012.12:120989007:C:T p.(Arg168Cys) NC_000012.12:120989007:C:T p.(Arg168Cys) NC_000012.12:120989007:C:T Identity +NM_020987.5:c.11145C>G NP_066267.2:p.Asp3715Glu NC_000010.11:60069735:G:C p.(Asp3715Glu) NC_000010.11:60069735:G:C p.(Asp3715Glu) NC_000010.11:60069735:G:C Identity +NM_005502.4:c.5924A>G NP_005493.2:p.Asn1975Ser NC_000009.12:104790924:T:C p.(Asn1975Ser) NC_000009.12:104790924:T:C p.(Asn1975Ser) NC_000009.12:104790924:T:C Identity +NM_001039550.2:c.641T>C NP_001034639.1:p.Leu214Pro NC_000002.12:219284652:T:C p.(Leu214Pro) NC_000002.12:219284652:T:C p.(Leu214Pro) NC_000002.12:219284652:T:C Identity +NM_001013838.3:c.2777G>T NP_001013860.1:p.Gly926Val NC_000016.10:67652298:G:T p.(Gly926Val) NC_000016.10:67652298:G:T p.(Gly926Val) NC_000016.10:67652298:G:T Identity +NM_001142800.2:c.6035C>T NP_001136272.1:p.Ser2012Phe NC_000006.12:64388732:G:A p.(Ser2012Phe) NC_000006.12:64388732:G:A p.(Ser2012Phe) NC_000006.12:64388732:G:A Identity +NM_001348729.2:c.1506A>G NP_001335658.1:p.Ile502Met NC_000002.12:8789997:T:C p.(Ile502Met) NC_000002.12:8789997:T:C p.(Ile502Met) NC_000002.12:8789997:T:C Identity +NM_001321193.3:c.1219A>G NP_001308122.1:p.Asn407Asp NC_000003.12:177034228:T:C p.(Asn407Asp) NC_000003.12:177034228:T:C p.(Asn407Asp) NC_000003.12:177034228:T:C Identity +NM_175737.4:c.1825A>G NP_783864.1:p.Thr609Ala NC_000004.12:39446550:A:G p.(Thr609Ala) NC_000004.12:39446550:A:G p.(Thr609Ala) NC_000004.12:39446550:A:G Identity +NM_207391.3:c.581C>T NP_997274.2:p.Ser194Phe NC_000019.10:32676843:C:T p.(Ser194Phe) NC_000019.10:32676843:C:T p.(Ser194Phe) NC_000019.10:32676843:C:T Identity +NM_001242366.3:c.11G>A NP_001229295.1:p.Ser4Asn NC_000017.11:28406103:C:T p.(Ser4Asn) NC_000017.11:28406103:C:T p.(Ser4Asn) NC_000017.11:28406103:C:T Identity +NM_000038.6:c.4928G>C NP_000029.2:p.Cys1643Ser NC_000005.10:112840521:G:C p.(Cys1643Ser) NC_000005.10:112840521:G:C p.(Cys1643Ser) NC_000005.10:112840521:G:C Identity +NM_002389.4:c.454G>A NP_002380.3:p.Gly152Ser NC_000001.11:207759702:G:A p.(Gly152Ser) NC_000001.11:207759702:G:A p.(Gly152Ser) NC_000001.11:207759702:G:A Identity +NM_001173431.2:c.3488A>T NP_001166902.1:p.Asn1163Ile NC_000002.12:219558197:T:A p.(Asn1163Ile) NC_000002.12:219558197:T:A p.(Asn1163Ile) NC_000002.12:219558197:T:A Identity +NM_003059.3:c.1460T>C NP_003050.2:p.Met487Thr NC_000005.10:132340579:T:C p.(Met487Thr) NC_000005.10:132340579:T:C p.(Met487Thr) NC_000005.10:132340579:T:C Identity +NM_001308258.2:c.718G>C NP_001295187.1:p.Glu240Gln NC_000003.12:149150647:G:C p.(Glu240Gln) NC_000003.12:149150647:G:C p.(Glu240Gln) NC_000003.12:149150647:G:C Identity +NM_032119.4:c.1166C>G NP_115495.3:p.Pro389Arg NC_000005.10:90627703:C:G p.(Pro389Arg) NC_000005.10:90627703:C:G p.(Pro389Arg) NC_000005.10:90627703:C:G Identity +NM_000161.3:c.298T>C NP_000152.1:p.Ser100Pro NC_000014.9:54902365:A:G p.(Ser100Pro) NC_000014.9:54902365:A:G p.(Ser100Pro) NC_000014.9:54902365:A:G Identity +NM_000782.5:c.1100G>A NP_000773.2:p.Arg367Gln NC_000020.11:54159013:C:T p.(Arg367Gln) NC_000020.11:54159013:C:T p.(Arg367Gln) NC_000020.11:54159013:C:T Identity +NM_152468.5:c.1527C>G NP_689681.2:p.Ile509Met NC_000017.11:78138181:C:G p.(Ile509Met) NC_000017.11:78138181:C:G p.(Ile509Met) NC_000017.11:78138181:C:G Identity +NM_001365536.1:c.5474C>T NP_001352465.1:p.Ala1825Val NC_000002.12:166199164:G:A p.(Ala1825Val) NC_000002.12:166199164:G:A p.(Ala1825Val) NC_000002.12:166199164:G:A Identity +NM_002283.4:c.550G>A NP_002274.1:p.Glu184Lys NC_000012.12:52365040:C:T p.(Glu184Lys) NC_000012.12:52365040:C:T p.(Glu184Lys) NC_000012.12:52365040:C:T Identity +NM_020949.3:c.673T>C NP_066000.2:p.Trp225Arg NC_000003.12:170498752:A:G p.(Trp225Arg) NC_000003.12:170498752:A:G p.(Trp225Arg) NC_000003.12:170498752:A:G Identity +NM_014727.3:c.2327G>A NP_055542.1:p.Arg776Gln NC_000019.10:35721673:G:A p.(Arg776Gln) NC_000019.10:35721673:G:A p.(Arg776Gln) NC_000019.10:35721673:G:A Identity +NM_057176.3:c.424G>A NP_476517.1:p.Gly142Arg NC_000001.11:55007147:G:A p.(Gly142Arg) NC_000001.11:55007147:G:A p.(Gly142Arg) NC_000001.11:55007147:G:A Identity +NM_022124.6:c.4216A>G NP_071407.4:p.Ile1406Val NC_000010.11:71738503:A:G p.(Ile1406Val) NC_000010.11:71738503:A:G p.(Ile1406Val) NC_000010.11:71738503:A:G Identity +NM_001414244.1:c.1772C>G NP_001401173.1:p.Pro591Arg NC_000012.12:12164552:G:C p.(Pro591Arg) NC_000012.12:12164552:G:C p.(Pro591Arg) NC_000012.12:12164552:G:C Identity +NM_001110556.2:c.3021G>C NP_001104026.1:p.Lys1007Asn NC_000023.11:154361493:C:G p.(Lys1007Asn) NC_000023.11:154361493:C:G p.(Lys1007Asn) NC_000023.11:154361493:C:G Identity +NM_001271933.2:c.3884A>G NP_001258862.1:p.Gln1295Arg NC_000011.10:117409767:A:G p.(Gln1295Arg) NC_000011.10:117409767:A:G p.(Gln1295Arg) NC_000011.10:117409767:A:G Identity +NM_001267727.2:c.1025G>T NP_001254656.1:p.Arg342Leu NC_000017.11:68385105:G:T p.(Arg342Leu) NC_000017.11:68385105:G:T p.(Arg342Leu) NC_000017.11:68385105:G:T Identity +NM_181503.3:c.508A>G NP_852480.1:p.Ile170Val NC_000013.11:37008076:A:G p.(Ile170Val) NC_000013.11:37008076:A:G p.(Ile170Val) NC_000013.11:37008076:A:G Identity +NM_001199922.2:c.911T>C NP_001186851.1:p.Ile304Thr NC_000011.10:124639817:A:G p.(Ile304Thr) NC_000011.10:124639817:A:G p.(Ile304Thr) NC_000011.10:124639817:A:G Identity +NM_001207055.2:c.467G>A NP_001193984.1:p.Gly156Glu NC_000020.11:32787389:G:A p.(Gly156Glu) NC_000020.11:32787389:G:A p.(Gly156Glu) NC_000020.11:32787389:G:A Identity +NM_001081640.2:c.71G>A NP_001075109.1:p.Arg24His NC_000008.11:47960055:C:T p.(Arg24His) NC_000008.11:47960055:C:T p.(Arg24His) NC_000008.11:47960055:C:T Identity +NM_001142864.4:c.6660G>C NP_001136336.2:p.Glu2220Asp NC_000016.10:88717022:C:G p.(Glu2220Asp) NC_000016.10:88717022:C:G p.(Glu2220Asp) NC_000016.10:88717022:C:G Identity +NM_001407456.1:c.7871G>A NP_001394385.1:p.Gly2624Asp NC_000005.10:112843713:G:A p.(Gly2624Asp) NC_000005.10:112843713:G:A p.(Gly2624Asp) NC_000005.10:112843713:G:A Identity +NM_020638.3:c.725A>G NP_065689.1:p.Glu242Gly NC_000012.12:4370373:T:C p.(Glu242Gly) NC_000012.12:4370373:T:C p.(Glu242Gly) NC_000012.12:4370373:T:C Identity +NM_000158.4:c.1848T>G NP_000149.4:p.Phe616Leu NC_000003.12:81535280:A:C p.(Phe616Leu) NC_000003.12:81535280:A:C p.(Phe616Leu) NC_000003.12:81535280:A:C Identity +NM_001146289.2:c.1526C>A NP_001139761.1:p.Pro509His NC_000001.11:42752316:G:T p.(Pro509His) NC_000001.11:42752316:G:T p.(Pro509His) NC_000001.11:42752316:G:T Identity +NM_001127231.3:c.2507T>C NP_001120703.1:p.Val836Ala NC_000007.14:70789794:T:C p.(Val836Ala) NC_000007.14:70789794:T:C p.(Val836Ala) NC_000007.14:70789794:T:C Identity +NM_000400.4:c.1922G>A NP_000391.1:p.Arg641Gln NC_000019.10:45352629:C:T p.(Arg641Gln) NC_000019.10:45352629:C:T p.(Arg641Gln) NC_000019.10:45352629:C:T Identity +NM_001291860.2:c.4454C>T NP_001278789.1:p.Ala1485Val NC_000001.11:21865017:G:A p.(Ala1485Val) NC_000001.11:21865017:G:A p.(Ala1485Val) NC_000001.11:21865017:G:A Identity +NM_006231.4:c.5893G>A NP_006222.2:p.Glu1965Lys NC_000012.12:132634296:C:T p.(Glu1965Lys) NC_000012.12:132634296:C:T p.(Glu1965Lys) NC_000012.12:132634296:C:T Identity +NM_172201.2:c.116C>G NP_751951.1:p.Ala39Gly NC_000021.9:34370593:C:G p.(Ala39Gly) NC_000021.9:34370593:C:G p.(Ala39Gly) NC_000021.9:34370593:C:G Identity +NM_000135.4:c.2584C>G NP_000126.2:p.Pro862Ala NC_000016.10:89767157:G:C p.(Pro862Ala) NC_000016.10:89767157:G:C p.(Pro862Ala) NC_000016.10:89767157:G:C Identity +NM_001135745.2:c.1123C>T NP_001129217.1:p.Gln375Ter NC_000002.12:201760870:G:A p.(Gln375Ter) NC_000002.12:201760870:G:A p.(Gln375Ter) NC_000002.12:201760870:G:A Identity +NM_001040167.2:c.271C>T NP_001035257.1:p.Pro91Ser NC_000007.14:2520131:C:T p.(Pro91Ser) NC_000007.14:2520131:C:T p.(Pro91Ser) NC_000007.14:2520131:C:T Identity +NM_021615.5:c.713G>A NP_067628.1:p.Gly238Asp NC_000016.10:75479115:C:T p.(Gly238Asp) NC_000016.10:75479115:C:T p.(Gly238Asp) NC_000016.10:75479115:C:T Identity +NM_001184795.1:c.26A>G NP_001171724.1:p.Tyr9Cys NC_000001.11:145917804:T:C p.(Tyr9Cys) NC_000001.11:145917804:T:C p.(Tyr9Cys) NC_000001.11:145917804:T:C Identity +NM_003630.3:c.145A>G NP_003621.1:p.Ile49Val NC_000006.12:143459155:A:G p.(Ile49Val) NC_000006.12:143459155:A:G p.(Ile49Val) NC_000006.12:143459155:A:G Identity +NM_001320759.2:c.2123C>T NP_001307688.1:p.Thr708Met NC_000017.11:18278093:G:A p.(Thr708Met) NC_000017.11:18278093:G:A p.(Thr708Met) NC_000017.11:18278093:G:A Identity +NM_001243254.2:c.148G>A NP_001230183.1:p.Gly50Ser NC_000011.10:9207593:C:T p.(Gly50Ser) NC_000011.10:9207593:C:T p.(Gly50Ser) NC_000011.10:9207593:C:T Identity +NM_004104.5:c.6266C>T NP_004095.4:p.Ala2089Val NC_000017.11:82081740:G:A p.(Ala2089Val) NC_000017.11:82081740:G:A p.(Ala2089Val) NC_000017.11:82081740:G:A Identity +NM_031935.3:c.6022G>T NP_114141.2:p.Val2008Phe NC_000001.11:186038998:G:T p.(Val2008Phe) NC_000001.11:186038998:G:T p.(Val2008Phe) NC_000001.11:186038998:G:T Identity +NM_000319.5:c.54_69dup NP_000310.2:p.Phe24fs NC_000012.12:7190430:GAAGCTCGCCGGGCAC:GAAGCTCGCCGGGCACGAAGCTCGCCGGGCAC p.(Phe24GlufsTer30) NC_000012.12:7190430:GAAGCTCGCCGGGCAC:GAAGCTCGCCGGGCACGAAGCTCGCCGGGCAC p.(Phe24GlufsTer30) ERR:SPDI Analogous +NM_015335.5:c.641A>G NP_056150.1:p.Tyr214Cys NC_000012.12:116019956:T:C p.(Tyr214Cys) NC_000012.12:116019956:T:C p.(Tyr214Cys) NC_000012.12:116019956:T:C Identity +NM_000276.4:c.17C>G NP_000267.2:p.Pro6Arg NC_000023.11:129540455:C:G p.(Pro6Arg) NC_000023.11:129540455:C:G p.(Pro6Arg) NC_000023.11:129540455:C:G Identity +NM_001172309.2:c.896C>T NP_001165780.1:p.Thr299Ile NC_000001.11:77933315:C:T p.(Thr299Ile) NC_000001.11:77933315:C:T p.(Thr299Ile) NC_000001.11:77933315:C:T Identity +NM_001290307.3:c.1841C>T NP_001277236.1:p.Ala614Val NC_000005.10:138925348:C:T p.(Ala614Val) NC_000005.10:138925348:C:T p.(Ala614Val) NC_000005.10:138925348:C:T Identity +NM_001172477.1:c.640A>T NP_001165948.1:p.Ile214Leu NC_000008.11:102224915:T:A p.(Ile214Leu) NC_000008.11:102224915:T:A p.(Ile214Leu) NC_000008.11:102224915:T:A Identity +NM_001290020.2:c.2807del NP_001276949.1:p.Asn936fs NC_000010.11:27860838:TT:T p.(Asn936IlefsTer3) NC_000010.11:27860838:TT:T p.(Asn936IlefsTer3) NC_000010.11:27860838:T: Analogous +NM_001160036.2:c.1628G>C NP_001153508.1:p.Ser543Thr NC_000008.11:23008052:G:C p.(Ser543Thr) NC_000008.11:23008052:G:C p.(Ser543Thr) NC_000008.11:23008052:G:C Identity +NM_020754.4:c.4131A>C NP_065805.2:p.Arg1377Ser NC_000003.12:119416059:A:C p.(Arg1377Ser) NC_000003.12:119416059:A:C p.(Arg1377Ser) NC_000003.12:119416059:A:C Identity +NM_152309.3:c.1243G>T NP_689522.2:p.Ala415Ser NC_000010.11:96645604:C:A p.(Ala415Ser) NC_000010.11:96645604:C:A p.(Ala415Ser) NC_000010.11:96645604:C:A Identity +NM_001195263.2:c.28G>A NP_001182192.1:p.Asp10Asn NC_000010.11:101030191:C:T p.(Asp10Asn) NC_000010.11:101030191:C:T p.(Asp10Asn) NC_000010.11:101030191:C:T Identity +NM_000285.4:c.367G>A NP_000276.2:p.Val123Met NC_000019.10:33500963:C:T p.(Val123Met) NC_000019.10:33500963:C:T p.(Val123Met) NC_000019.10:33500963:C:T Identity +NM_002234.4:c.269G>T NP_002225.2:p.Arg90Leu NC_000012.12:5044415:G:T p.(Arg90Leu) NC_000012.12:5044415:G:T p.(Arg90Leu) NC_000012.12:5044415:G:T Identity +NM_007312.3:c.734G>C NP_009296.1:p.Ser245Thr NC_000003.12:50302222:C:G ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_001035506.1:c.726G>C NP_001030583.1:p.Lys242Asn NC_000002.12:27054803:G:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_024652.6:c.3732G>C NP_078928.3:p.Glu1244Asp NC_000015.10:101052963:G:C p.(Glu1244Asp) NC_000015.10:101052963:G:C p.(Glu1244Asp) NC_000015.10:101052963:G:C Identity +NM_001104577.2:c.271G>A NP_001098047.1:p.Gly91Ser NC_000017.11:5034217:C:T p.(Gly91Ser) NC_000017.11:5034217:C:T p.(Gly91Ser) NC_000017.11:5034217:C:T Identity +NM_003052.5:c.1885G>T NP_003043.3:p.Ala629Ser NC_000005.10:177398250:G:T p.(Ala629Ser) NC_000005.10:177398250:G:T p.(Ala629Ser) NC_000005.10:177398250:G:T Identity +NM_001416202.1:c.4160T>A NP_001403131.1:p.Leu1387His NC_000012.12:53063811:T:A p.(Leu1387His) NC_000012.12:53063811:T:A p.(Leu1387His) NC_000012.12:53063811:T:A Identity +NM_000165.5:c.956G>A NP_000156.1:p.Arg319Gln NC_000006.12:121447802:G:A p.(Arg319Gln) NC_000006.12:121447802:G:A p.(Arg319Gln) NC_000006.12:121447802:G:A Identity +NM_004795.4:c.2639A>G NP_004786.2:p.His880Arg NC_000013.11:33061717:A:G p.(His880Arg) NC_000013.11:33061717:A:G p.(His880Arg) NC_000013.11:33061717:A:G Identity +NM_001128608.2:c.4057C>T NP_001122080.1:p.Pro1353Ser NC_000015.10:41823886:C:T p.(Pro1353Ser) NC_000015.10:41823886:C:T p.(Pro1353Ser) NC_000015.10:41823886:C:T Identity +NM_001040436.3:c.578T>G NP_001035526.1:p.Phe193Cys NC_000012.12:32755296:A:C p.(Phe193Cys) NC_000012.12:32755296:A:C p.(Phe193Cys) NC_000012.12:32755296:A:C Identity +NM_138395.4:c.115G>A NP_612404.1:p.Asp39Asn NC_000002.12:197705519:G:A p.(Asp39Asn) NC_000002.12:197705519:G:A p.(Asp39Asn) NC_000002.12:197705519:G:A Identity +NM_001008537.3:c.2227A>C NP_001008537.1:p.Ile743Leu NC_000023.11:74742329:T:G p.(Ile743Leu) NC_000023.11:74742329:T:G p.(Ile743Leu) NC_000023.11:74742329:T:G Identity +LRG_19t1:c.807C>G LRG_19p1:p.Ile269Met NC_000023.11:123886468:C:G ERR:Data provider error: ValueError: Transcript LRG_19t1 not found ERR:Data provider error: ValueError: Transcript LRG_19t1 not found ERR:AlignmentMapper(tx_ac=LRG_19t1, alt_ac=LRG_19t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_19t1, alt_ac=LRG_19t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_19t1 not found +NM_001193333.3:c.82G>A NP_001180262.1:p.Val28Met NC_000016.10:30185290:G:A p.(Val28Met) NC_000016.10:30185290:G:A p.(Val28Met) NC_000016.10:30185290:G:A Identity +NM_002900.3:c.1603C>G NP_002891.1:p.Arg535Gly NC_000010.11:47350086:C:G p.(Arg535Gly) NC_000010.11:47350086:C:G p.(Arg535Gly) NC_000010.11:47350086:C:G Identity +NM_001029896.2:c.1010_1011del NP_001025067.1:p.Phe337fs NC_000023.11:49074874:GA: p.(Phe337TyrfsTer3) NC_000023.11:49074874:GA: p.(Phe337TyrfsTer3) NC_000023.11:49074874:GA: Analogous +NM_001371986.1:c.2071T>C NP_001358915.1:p.Cys691Arg NC_000002.12:209820418:T:C p.(Cys691Arg) NC_000002.12:209820418:T:C p.(Cys691Arg) NC_000002.12:209820418:T:C Identity +NM_006343.3:c.2518G>A NP_006334.2:p.Asp840Asn NC_000002.12:112028381:G:A p.(Asp840Asn) NC_000002.12:112028381:G:A p.(Asp840Asn) NC_000002.12:112028381:G:A Identity +NM_001271022.2:c.740C>T NP_001257951.1:p.Ala247Val NC_000003.12:48460174:C:T p.(Ala247Val) NC_000003.12:48460174:C:T p.(Ala247Val) NC_000003.12:48460174:C:T Identity +NM_001166136.2:c.194C>T NP_001159608.1:p.Pro65Leu NC_000004.12:5694350:G:A p.(Pro65Leu) NC_000004.12:5694350:G:A p.(Pro65Leu) NC_000004.12:5694350:G:A Identity +NM_001144996.2:c.2087C>A NP_001138468.1:p.Thr696Asn NC_000012.12:55694898:G:T p.(Thr696Asn) NC_000012.12:55694898:G:T p.(Thr696Asn) NC_000012.12:55694898:G:T Identity +NM_002470.4:c.211G>C NP_002461.2:p.Val71Leu NC_000017.11:10652556:C:G p.(Val71Leu) NC_000017.11:10652556:C:G p.(Val71Leu) NC_000017.11:10652556:C:G Identity +NM_001006600.3:c.3567A>C NP_001006600.1:p.Lys1189Asn NC_000005.10:66054884:A:C p.(Lys1189Asn) NC_000005.10:66054884:A:C p.(Lys1189Asn) NC_000005.10:66054884:A:C Identity +NM_001362877.2:c.1072A>G NP_001349806.1:p.Ile358Val NC_000022.11:23833602:A:G p.(Ile358Val) NC_000022.11:23833602:A:G p.(Ile358Val) NC_000022.11:23833602:A:G Identity +NM_000096.4:c.2626C>T NP_000087.2:p.Pro876Ser NC_000003.12:149179590:G:A p.(Pro876Ser) NC_000003.12:149179590:G:A p.(Pro876Ser) NC_000003.12:149179590:G:A Identity +NM_000135.4:c.353C>G NP_000126.2:p.Ala118Gly NC_000016.10:89811001:G:C p.(Ala118Gly) NC_000016.10:89811001:G:C p.(Ala118Gly) NC_000016.10:89811001:G:C Identity +NM_001034850.3:c.340T>C NP_001030022.1:p.Trp114Arg NC_000005.10:16572082:A:G p.(Trp114Arg) NC_000005.10:16572082:A:G p.(Trp114Arg) NC_000005.10:16572082:A:G Identity +NM_001178098.2:c.316G>T NP_001171569.1:p.Ala106Ser NC_000016.10:28932572:G:T p.(Ala106Ser) NC_000016.10:28932572:G:T p.(Ala106Ser) NC_000016.10:28932572:G:T Identity +NM_001293273.2:c.25G>A NP_001280202.1:p.Glu9Lys NC_000003.12:183094577:C:T p.(Glu9Lys) NC_000003.12:183094577:C:T p.(Glu9Lys) NC_000003.12:183094577:C:T Identity +NM_001317061.3:c.1456C>G NP_001303990.1:p.Leu486Val NC_000006.12:3113267:C:G p.(Leu486Val) NC_000006.12:3113267:C:G p.(Leu486Val) NC_000006.12:3113267:C:G Identity +NM_000065.5:c.604G>A NP_000056.2:p.Gly202Arg NC_000005.10:41186191:C:T p.(Gly202Arg) NC_000005.10:41186191:C:T p.(Gly202Arg) NC_000005.10:41186191:C:T Identity +NM_015375.3:c.1090C>G NP_056190.1:p.Leu364Val NC_000001.11:205169396:G:C p.(Leu364Val) NC_000001.11:205169396:G:C p.(Leu364Val) NC_000001.11:205169396:G:C Identity +NM_000246.4:c.1518del NP_000237.2:p.Gln507fs NC_000016.10:10907009:G: p.(Gln507LysfsTer51) NC_000016.10:10907009:G: p.(Gln507LysfsTer51) NC_000016.10:10907009:G: Analogous +NM_000789.4:c.1453C>G NP_000780.1:p.Pro485Ala NC_000017.11:63483138:C:G p.(Pro485Ala) NC_000017.11:63483138:C:G p.(Pro485Ala) NC_000017.11:63483138:C:G Identity +NM_001256876.3:c.3736C>T NP_001243805.1:p.Arg1246Trp NC_000009.12:742243:C:T p.(Arg1246Trp) NC_000009.12:742243:C:T p.(Arg1246Trp) NC_000009.12:742243:C:T Identity +NM_023077.3:c.653A>T NP_075565.2:p.His218Leu NC_000001.11:52687762:T:A p.(His218Leu) NC_000001.11:52687762:T:A p.(His218Leu) NC_000001.11:52687762:T:A Identity +NM_000701.8:c.577G>A NP_000692.2:p.Val193Ile NC_000001.11:116388712:G:A p.(Val193Ile) NC_000001.11:116388712:G:A p.(Val193Ile) NC_000001.11:116388712:G:A Identity +NM_001005242.3:c.2326C>A NP_001005242.2:p.Gln776Lys NC_000012.12:32796139:G:T p.(Gln776Lys) NC_000012.12:32796139:G:T p.(Gln776Lys) NC_000012.12:32796139:G:T Identity +NM_001193306.2:c.583G>A NP_001180235.1:p.Val195Ile NC_000019.10:51746411:C:T p.(Val195Ile) NC_000019.10:51746411:C:T p.(Val195Ile) NC_000019.10:51746411:C:T Identity +NM_001321431.2:c.790G>A NP_001308360.1:p.Val264Ile NC_000019.10:8141791:C:T p.(Val264Ile) NC_000019.10:8141791:C:T p.(Val264Ile) NC_000019.10:8141791:C:T Identity +NM_138694.4:c.3791C>G NP_619639.3:p.Thr1264Ser NC_000006.12:52026018:G:C p.(Thr1264Ser) NC_000006.12:52026018:G:C p.(Thr1264Ser) NC_000006.12:52026018:G:C Identity +NM_001127897.4:c.3368A>G NP_001121369.1:p.Tyr1123Cys NC_000016.10:53619032:T:C p.(Tyr1123Cys) NC_000016.10:53619032:T:C p.(Tyr1123Cys) NC_000016.10:53619032:T:C Identity +NM_001410709.1:c.4T>C NP_001397638.1:p.Cys2Arg NC_000001.11:1214123:A:G p.(Cys2Arg) NC_000001.11:1214123:A:G p.(Cys2Arg) NC_000001.11:1214123:A:G Identity +NM_000790.4:c.331T>C NP_000781.2:p.Cys111Arg NC_000007.14:50537963:A:G p.(Cys111Arg) NC_000007.14:50537963:A:G p.(Cys111Arg) NC_000007.14:50537963:A:G Identity +NM_001362843.2:c.7058A>G NP_001349772.1:p.Asn2353Ser NC_000022.11:41178846:A:G p.(Asn2353Ser) NC_000022.11:41178846:A:G p.(Asn2353Ser) NC_000022.11:41178846:A:G Identity +NM_013416.4:c.786_787insA NP_038202.2:p.Pro263fs NC_000022.11:36875811::A p.(Pro263ThrfsTer62) NC_000022.11:36875810:T:A p.(Pro263ThrfsTer62) NC_000022.11:36875811:TC:A Analogous +NM_000742.4:c.647T>C NP_000733.2:p.Met216Thr NC_000008.11:27463795:A:G p.(Met216Thr) NC_000008.11:27463795:A:G p.(Met216Thr) NC_000008.11:27463795:A:G Identity +NM_006031.6:c.298G>A NP_006022.3:p.Asp100Asn NC_000021.9:46334426:G:A p.(Asp100Asn) NC_000021.9:46334426:G:A p.(Asp100Asn) NC_000021.9:46334426:G:A Identity +NM_148897.3:c.454C>T NP_683695.1:p.Arg152Trp NC_000012.12:56930331:G:A p.(Arg152Trp) NC_000012.12:56930331:G:A p.(Arg152Trp) NC_000012.12:56930331:G:A Identity +NM_000936.4:c.469G>A NP_000927.1:p.Gly157Ser NC_000010.11:116553735:G:A p.(Gly157Ser) NC_000010.11:116553735:G:A p.(Gly157Ser) NC_000010.11:116553735:G:A Identity +NM_000094.4:c.8797G>C NP_000085.1:p.Val2933Leu NC_000003.12:48564803:C:G p.(Val2933Leu) NC_000003.12:48564803:C:G p.(Val2933Leu) NC_000003.12:48564803:C:G Identity +LRG_277t1:c.3593T>C LRG_277p1:p.Leu1198Pro NC_000008.11:144511464:A:G ERR:Data provider error: ValueError: Transcript LRG_277t1 not found ERR:Data provider error: ValueError: Transcript LRG_277t1 not found ERR:AlignmentMapper(tx_ac=LRG_277t1, alt_ac=LRG_277t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_277t1, alt_ac=LRG_277t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_277t1 not found +NM_000151.4:c.362T>C NP_000142.2:p.Met121Thr NC_000017.11:42907543:T:C p.(Met121Thr) NC_000017.11:42907543:T:C p.(Met121Thr) NC_000017.11:42907543:T:C Identity +NM_005888.4:c.259G>A NP_005879.1:p.Asp87Asn NC_000012.12:98595533:G:A p.(Asp87Asn) NC_000012.12:98595533:G:A p.(Asp87Asn) NC_000012.12:98595533:G:A Identity +NM_000426.4:c.3467A>T NP_000417.3:p.Asp1156Val NC_000006.12:129314709:A:T p.(Asp1156Val) NC_000006.12:129314709:A:T p.(Asp1156Val) NC_000006.12:129314709:A:T Identity +NM_005142.3:c.1129G>A NP_005133.2:p.Ala377Thr NC_000011.10:59831740:C:T p.(Ala377Thr) NC_000011.10:59831740:C:T p.(Ala377Thr) NC_000011.10:59831740:C:T Identity +NM_001242307.2:c.2607A>C NP_001229236.1:p.Glu869Asp NC_000010.11:3143429:T:G p.(Glu869Asp) NC_000010.11:3143429:T:G p.(Glu869Asp) NC_000010.11:3143429:T:G Identity +NM_015909.4:c.6443C>T NP_056993.2:p.Ala2148Val NC_000002.12:15190392:G:A p.(Ala2148Val) NC_000002.12:15190392:G:A p.(Ala2148Val) NC_000002.12:15190392:G:A Identity +NM_001377260.1:c.424G>A NP_001364189.1:p.Ala142Thr NC_000001.11:231421464:C:T p.(Ala142Thr) NC_000001.11:231421464:C:T p.(Ala142Thr) NC_000001.11:231421464:C:T Identity +NM_000492.4:c.1872C>A NP_000483.3:p.Ser624Arg NC_000007.14:117592038:C:A p.(Ser624Arg) NC_000007.14:117592038:C:A p.(Ser624Arg) NC_000007.14:117592038:C:A Identity +NM_000068.4:c.2614G>T NP_000059.3:p.Ala872Ser NC_000019.10:13299030:C:A p.(Ala872Ser) NC_000019.10:13299030:C:A p.(Ala872Ser) NC_000019.10:13299030:C:A Identity +NM_006929.5:c.2845C>T NP_008860.4:p.Gln949Ter NC_000006.12:31968068:C:T p.(Gln949Ter) NC_000006.12:31968068:C:T p.(Gln949Ter) NC_000006.12:31968068:C:T Identity +NM_001110556.2:c.3637G>A NP_001104026.1:p.Gly1213Ser NC_000023.11:154360157:C:T p.(Gly1213Ser) NC_000023.11:154360157:C:T p.(Gly1213Ser) NC_000023.11:154360157:C:T Identity +NM_001256850.1:c.96712C>T NP_001243779.1:p.His32238Tyr NC_000002.12:178534979:G:A p.(His32238Tyr) NC_000002.12:178534979:G:A p.(His32238Tyr) NC_000002.12:178534979:G:A Identity +NM_032856.5:c.346G>A NP_116245.2:p.Asp116Asn NC_000015.10:84647895:C:T p.(Asp116Asn) NC_000015.10:84647895:C:T p.(Asp116Asn) NC_000015.10:84647895:C:T Identity +NM_001169109.2:c.179G>A NP_001162580.1:p.Arg60Gln NC_000022.11:50524232:C:T p.(Arg60Gln) NC_000022.11:50524232:C:T p.(Arg60Gln) NC_000022.11:50524232:C:T Identity +NM_001407361.1:c.219G>C NP_001394290.1:p.Leu73Phe NC_000001.11:17033126:C:G p.(Leu73Phe) NC_000001.11:17033126:C:G p.(Leu73Phe) NC_000001.11:17033126:C:G Identity +NM_001161520.2:c.1248T>G NP_001154992.2:p.Tyr416Ter NC_000007.14:107298206:A:C p.(Tyr416Ter) NC_000007.14:107298206:A:C p.(Tyr416Ter) NC_000007.14:107298206:A:C Identity +NM_002181.4:c.281A>G NP_002172.2:p.Glu94Gly NC_000002.12:219060186:T:C p.(Glu94Gly) NC_000002.12:219060186:T:C p.(Glu94Gly) NC_000002.12:219060186:T:C Identity +NM_145046.5:c.466G>C NP_659483.2:p.Glu156Gln NC_000019.10:16485188:C:G p.(Glu156Gln) NC_000019.10:16485188:C:G p.(Glu156Gln) NC_000019.10:16485188:C:G Identity +NM_018206.6:c.106A>G NP_060676.2:p.Lys36Glu NC_000016.10:46682171:T:C p.(Lys36Glu) NC_000016.10:46682171:T:C p.(Lys36Glu) NC_000016.10:46682171:T:C Identity +NM_000388.4:c.2726C>G NP_000379.3:p.Thr909Ser NC_000003.12:122284679:C:G p.(Thr909Ser) NC_000003.12:122284679:C:G p.(Thr909Ser) NC_000003.12:122284679:C:G Identity +NM_001025107.3:c.188A>G NP_001020278.1:p.Lys63Arg NC_000001.11:154601568:T:C p.(Lys63Arg) NC_000001.11:154601568:T:C p.(Lys63Arg) NC_000001.11:154601568:T:C Identity +NM_001378454.1:c.7463A>T NP_001365383.1:p.Gln2488Leu NC_000002.12:73453989:A:T p.(Gln2488Leu) NC_000002.12:73453989:A:T p.(Gln2488Leu) NC_000002.12:73453989:A:T Identity +NM_001100112.2:c.409C>T NP_001093582.1:p.Pro137Ser NC_000017.11:10545441:G:A p.(Pro137Ser) NC_000017.11:10545441:G:A p.(Pro137Ser) NC_000017.11:10545441:G:A Identity +NM_001110556.2:c.3071T>G NP_001104026.1:p.Leu1024Arg NC_000023.11:154361443:A:C p.(Leu1024Arg) NC_000023.11:154361443:A:C p.(Leu1024Arg) NC_000023.11:154361443:A:C Identity +NM_001184728.3:c.1501C>T NP_001171657.1:p.Arg501Cys NC_000020.11:45425757:C:T p.(Arg501Cys) NC_000020.11:45425757:C:T p.(Arg501Cys) NC_000020.11:45425757:C:T Identity +NM_000135.4:c.196G>T NP_000126.2:p.Gly66Cys NC_000016.10:89814606:C:A p.(Gly66Cys) NC_000016.10:89814606:C:A p.(Gly66Cys) NC_000016.10:89814606:C:A Identity +NM_001164716.1:c.909C>A NP_001158188.1:p.His303Gln NC_000011.10:64753944:G:T p.(His303Gln) NC_000011.10:64753944:G:T p.(His303Gln) NC_000011.10:64753944:G:T Identity +NM_006231.4:c.6142A>G NP_006222.2:p.Ile2048Val NC_000012.12:132632502:T:C p.(Ile2048Val) NC_000012.12:132632502:T:C p.(Ile2048Val) NC_000012.12:132632502:T:C Identity +NM_006766.5:c.5020C>G NP_006757.2:p.Pro1674Ala NC_000008.11:41933199:G:C p.(Pro1674Ala) NC_000008.11:41933199:G:C p.(Pro1674Ala) NC_000008.11:41933199:G:C Identity +NM_004995.4:c.863G>A NP_004986.1:p.Gly288Glu NC_000014.9:22843721:G:A p.(Gly288Glu) NC_000014.9:22843721:G:A p.(Gly288Glu) NC_000014.9:22843721:G:A Identity +NM_001127660.2:c.1717G>A NP_001121132.1:p.Val573Ile NC_000001.11:12006537:G:A p.(Val573Ile) NC_000001.11:12006537:G:A p.(Val573Ile) NC_000001.11:12006537:G:A Identity +NM_001145412.3:c.832A>G NP_001138884.1:p.Ser278Gly NC_000002.12:177231722:T:C p.(Ser278Gly) NC_000002.12:177231722:T:C p.(Ser278Gly) NC_000002.12:177231722:T:C Identity +NM_000222.3:c.826A>T NP_000213.1:p.Thr276Ser NC_000004.12:54703792:A:T p.(Thr276Ser) NC_000004.12:54703792:A:T p.(Thr276Ser) NC_000004.12:54703792:A:T Identity +NM_006929.5:c.1651C>A NP_008860.4:p.Arg551Ser NC_000006.12:31963915:C:A p.(Arg551Ser) NC_000006.12:31963915:C:A p.(Arg551Ser) NC_000006.12:31963915:C:A Identity +NM_032833.5:c.97T>G NP_116222.4:p.Ser33Ala NC_000001.11:204411314:A:C p.(Ser33Ala) NC_000001.11:204411314:A:C p.(Ser33Ala) NC_000001.11:204411314:A:C Identity +NM_001304482.2:c.824T>C NP_001291411.1:p.Met275Thr NC_000003.12:47408361:T:C p.(Met275Thr) NC_000003.12:47408361:T:C p.(Met275Thr) NC_000003.12:47408361:T:C Identity +NM_000059.4:c.9343A>C NP_000050.3:p.Lys3115Gln NC_000013.11:32394774:A:C p.(Lys3115Gln) NC_000013.11:32394774:A:C p.(Lys3115Gln) NC_000013.11:32394774:A:C Identity +NM_001184705.4:c.134T>C NP_001171634.3:p.Val45Ala NC_000004.12:108009759:T:C p.(Val45Ala) NC_000004.12:108009759:T:C p.(Val45Ala) NC_000004.12:108009759:T:C Identity +NM_015180.6:c.11446T>C NP_055995.4:p.Ser3816Pro NC_000014.9:64081541:T:C p.(Ser3816Pro) NC_000014.9:64081541:T:C p.(Ser3816Pro) NC_000014.9:64081541:T:C Identity +NM_001349896.1:c.793C>T NP_001336825.1:p.Gln265Ter NC_000022.11:26465464:G:A p.(Gln265Ter) NC_000022.11:26465464:G:A p.(Gln265Ter) NC_000022.11:26465464:G:A Identity +NM_018848.3:c.842G>C NP_061336.1:p.Arg281Thr NC_000020.11:10412672:C:G p.(Arg281Thr) NC_000020.11:10412672:C:G p.(Arg281Thr) NC_000020.11:10412672:C:G Identity +NM_001164317.2:c.4014del NP_001157789.1:p.Glu1340fs NC_000003.12:58125695:G: p.(Glu1340ArgfsTer24) NC_000003.12:58125695:G: p.(Glu1340ArgfsTer24) NC_000003.12:58125695:G: Analogous +NM_001012339.3:c.1005_1007del NP_001012339.2:p.Lys337del NC_000005.10:34944887:AAA: p.(Lys337del) NC_000005.10:34944887:AAA: p.(Lys337del) NC_000005.10:34944887:AAA: Identity +NM_003803.4:c.1904G>A NP_003794.3:p.Gly635Asp NC_000018.10:3142059:C:T p.(Gly635Asp) NC_000018.10:3142059:C:T p.(Gly635Asp) NC_000018.10:3142059:C:T Identity +NM_001291285.3:c.10936T>G NP_001278214.1:p.Leu3646Val NC_000004.12:125451945:T:G p.(Leu3646Val) NC_000004.12:125451945:T:G p.(Leu3646Val) NC_000004.12:125451945:T:G Identity +NM_000787.4:c.808G>A NP_000778.3:p.Ala270Thr NC_000009.12:133643475:G:A p.(Ala270Thr) NC_000009.12:133643475:G:A p.(Ala270Thr) NC_000009.12:133643475:G:A Identity +NM_000287.4:c.544G>A NP_000278.3:p.Val182Met NC_000006.12:42978606:C:T p.(Val182Met) NC_000006.12:42978606:C:T p.(Val182Met) NC_000006.12:42978606:C:T Identity +NM_000109.4:c.2657G>T NP_000100.3:p.Ser886Ile NC_000023.11:32485040:C:A p.(Ser886Ile) NC_000023.11:32485040:C:A p.(Ser886Ile) NC_000023.11:32485040:C:A Identity +NM_001139490.1:c.1211G>A NP_001132962.1:p.Arg404Gln NC_000002.12:238349365:G:A p.(Arg404Gln) NC_000002.12:238349365:G:A p.(Arg404Gln) NC_000002.12:238349365:G:A Identity +NM_001376.5:c.12340C>T NP_001367.2:p.His4114Tyr NC_000014.9:102042447:C:T p.(His4114Tyr) NC_000014.9:102042447:C:T p.(His4114Tyr) NC_000014.9:102042447:C:T Identity +NM_001354259.2:c.2305G>A NP_001341188.1:p.Asp769Asn NC_000009.12:137790862:G:A p.(Asp769Asn) NC_000009.12:137790862:G:A p.(Asp769Asn) NC_000009.12:137790862:G:A Identity +NM_001145138.2:c.181A>G NP_001138610.1:p.Ile61Val NC_000011.10:65661941:T:C p.(Ile61Val) NC_000011.10:65661941:T:C p.(Ile61Val) NC_000011.10:65661941:T:C Identity +NM_001035.3:c.9432G>C NP_001026.2:p.Lys3144Asn NC_000001.11:237702041:G:C p.(Lys3144Asn) NC_000001.11:237702041:G:C p.(Lys3144Asn) NC_000001.11:237702041:G:C Identity +NM_000721.4:c.2837G>A NP_000712.2:p.Arg946His NC_000001.11:181732922:G:A p.(Arg946His) NC_000001.11:181732922:G:A p.(Arg946His) NC_000001.11:181732922:G:A Identity +NM_001135597.2:c.4834A>G NP_001129069.1:p.Asn1612Asp NC_000002.12:55296511:T:C p.(Asn1612Asp) NC_000002.12:55296511:T:C p.(Asn1612Asp) NC_000002.12:55296511:T:C Identity +NM_000553.6:c.1264A>T NP_000544.2:p.Thr422Ser NC_000008.11:31081290:A:T p.(Thr422Ser) NC_000008.11:31081290:A:T p.(Thr422Ser) NC_000008.11:31081290:A:T Identity +NM_005559.4:c.2560A>C NP_005550.2:p.Asn854His NC_000018.10:7023304:T:G p.(Asn854His) NC_000018.10:7023304:T:G p.(Asn854His) NC_000018.10:7023304:T:G Identity +NM_000059.4:c.8896G>A NP_000050.3:p.Val2966Ile NC_000013.11:32379457:G:A p.(Val2966Ile) NC_000013.11:32379457:G:A p.(Val2966Ile) NC_000013.11:32379457:G:A Identity +NM_001010895.4:c.1232T>C NP_001010895.2:p.Leu411Ser NC_000009.12:95921247:T:C p.(Leu411Ser) NC_000009.12:95921247:T:C p.(Leu411Ser) NC_000009.12:95921247:T:C Identity +NM_006734.4:c.3716A>G NP_006725.3:p.Gln1239Arg NC_000006.12:142771022:T:C p.(Gln1239Arg) NC_000006.12:142771022:T:C p.(Gln1239Arg) NC_000006.12:142771022:T:C Identity +NM_001287249.2:c.1093C>G NP_001274178.1:p.Gln365Glu NC_000002.12:241767897:C:G p.(Gln365Glu) NC_000002.12:241767897:C:G p.(Gln365Glu) NC_000002.12:241767897:C:G Identity +NM_001012509.4:c.1049A>G NP_001012527.2:p.Asp350Gly NC_000005.10:33951660:T:C p.(Asp350Gly) NC_000005.10:33951660:T:C p.(Asp350Gly) NC_000005.10:33951660:T:C Identity +NM_001282531.3:c.3144G>T NP_001269460.1:p.Lys1048Asn NC_000020.11:50891569:C:A p.(Lys1048Asn) NC_000020.11:50891569:C:A p.(Lys1048Asn) NC_000020.11:50891569:C:A Identity +NM_004855.5:c.592A>G NP_004846.4:p.Thr198Ala NC_000015.10:55329792:A:G p.(Thr198Ala) NC_000015.10:55329792:A:G p.(Thr198Ala) NC_000015.10:55329792:A:G Identity +NM_001005407.2:c.6647C>A NP_001005407.1:p.Ser2216Tyr NC_000016.10:1220596:C:A p.(Ser2216Tyr) NC_000016.10:1220596:C:A p.(Ser2216Tyr) NC_000016.10:1220596:C:A Identity +NM_000059.4:c.5032A>G NP_000050.3:p.Lys1678Glu NC_000013.11:32339386:A:G p.(Lys1678Glu) NC_000013.11:32339386:A:G p.(Lys1678Glu) NC_000013.11:32339386:A:G Identity +NM_001318491.2:c.757A>G NP_001305420.1:p.Ile253Val NC_000013.11:20601705:A:G p.(Ile253Val) NC_000013.11:20601705:A:G p.(Ile253Val) NC_000013.11:20601705:A:G Identity +NM_001371986.1:c.3175G>A NP_001358915.1:p.Gly1059Arg NC_000002.12:209839354:G:A p.(Gly1059Arg) NC_000002.12:209839354:G:A p.(Gly1059Arg) NC_000002.12:209839354:G:A Identity +NM_001080467.3:c.197A>G NP_001073936.1:p.Asp66Gly NC_000018.10:50040255:T:C p.(Asp66Gly) NC_000018.10:50040255:T:C p.(Asp66Gly) NC_000018.10:50040255:T:C Identity +NM_000489.6:c.902A>G NP_000480.3:p.Asp301Gly NC_000023.11:77684353:T:C p.(Asp301Gly) NC_000023.11:77684353:T:C p.(Asp301Gly) NC_000023.11:77684353:T:C Identity +NM_000256.3:c.1058del NP_000247.2:p.Lys353fs NC_000011.10:47346238:TT:T p.(Lys353ArgfsTer3) NC_000011.10:47346238:TT:T p.(Lys353ArgfsTer3) NC_000011.10:47346238:T: Analogous +NM_001346813.1:c.3074C>T NP_001333742.1:p.Pro1025Leu NC_000006.12:157174094:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_012186.3:c.145G>T NP_036318.1:p.Gly49Ter NC_000001.11:47416459:G:T p.(Gly49Ter) NC_000001.11:47416459:G:T p.(Gly49Ter) NC_000001.11:47416459:G:T Identity +NM_001367830.1:c.683C>T NP_001354759.1:p.Pro228Leu NC_000019.10:11250910:G:A p.(Pro228Leu) NC_000019.10:11250910:G:A p.(Pro228Leu) NC_000019.10:11250910:G:A Identity +NM_000286.3:c.207_209del NP_000277.1:p.Leu70del NC_000017.11:35577508:AGCAG:AG p.(Leu70del) NC_000017.11:35577508:AGCAG:AG p.(Leu70del) NC_000017.11:35577508:AGC: Identity +NM_001144996.2:c.1820G>A NP_001138468.1:p.Arg607Gln NC_000012.12:55696361:C:T p.(Arg607Gln) NC_000012.12:55696361:C:T p.(Arg607Gln) NC_000012.12:55696361:C:T Identity +NM_001143779.2:c.631C>G NP_001137251.1:p.Gln211Glu NC_000012.12:110135371:C:G p.(Gln211Glu) NC_000012.12:110135371:C:G p.(Gln211Glu) NC_000012.12:110135371:C:G Identity +NM_001041.4:c.130T>A NP_001032.2:p.Ser44Thr NC_000003.12:165074655:A:T p.(Ser44Thr) NC_000003.12:165074655:A:T p.(Ser44Thr) NC_000003.12:165074655:A:T Identity +NM_001282948.2:c.4087A>G NP_001269877.1:p.Asn1363Asp NC_000010.11:63207035:T:C p.(Asn1363Asp) NC_000010.11:63207035:T:C p.(Asn1363Asp) NC_000010.11:63207035:T:C Identity +NM_001008211.1:c.1333G>C NP_001008212.1:p.Asp445His NC_000010.11:13127834:G:C p.(Asp445His) NC_000010.11:13127834:G:C p.(Asp445His) NC_000010.11:13127834:G:C Identity +NM_032444.4:c.883T>C NP_115820.2:p.Phe295Leu NC_000016.10:3602184:A:G p.(Phe295Leu) NC_000016.10:3602184:A:G p.(Phe295Leu) NC_000016.10:3602184:A:G Identity +NM_004104.5:c.1144C>T NP_004095.4:p.Pro382Ser NC_000017.11:82091569:G:A p.(Pro382Ser) NC_000017.11:82091569:G:A p.(Pro382Ser) NC_000017.11:82091569:G:A Identity +NM_006915.3:c.284C>A NP_008846.2:p.Pro95His NC_000023.11:46853656:C:A p.(Pro95His) NC_000023.11:46853656:C:A p.(Pro95His) NC_000023.11:46853656:C:A Identity +NM_014639.4:c.2341G>T NP_055454.1:p.Asp781Tyr NC_000005.10:95517010:C:A p.(Asp781Tyr) NC_000005.10:95517010:C:A p.(Asp781Tyr) NC_000005.10:95517010:C:A Identity +NM_006019.4:c.77dup NP_006010.2:p.Ser27fs NC_000011.10:68041347:T:TT p.(Ser27GlufsTer28) NC_000011.10:68041347:T:TT p.(Ser27GlufsTer28) ERR:SPDI Analogous +NM_001114331.3:c.157C>T NP_001107803.1:p.His53Tyr NC_000016.10:1461658:G:A p.(His53Tyr) NC_000016.10:1461658:G:A p.(His53Tyr) NC_000016.10:1461658:G:A Identity +NM_001363520.3:c.1273A>G NP_001350449.1:p.Ile425Val NC_000004.12:127920712:T:C p.(Ile425Val) NC_000004.12:127920712:T:C p.(Ile425Val) NC_000004.12:127920712:T:C Identity +NM_000466.3:c.1096G>C NP_000457.1:p.Asp366His NC_000007.14:92517418:C:G p.(Asp366His) NC_000007.14:92517418:C:G p.(Asp366His) NC_000007.14:92517418:C:G Identity +NM_001006657.2:c.717G>A NP_001006658.1:p.Met239Ile NC_000002.12:19974486:C:T p.(Met239Ile) NC_000002.12:19974486:C:T p.(Met239Ile) NC_000002.12:19974486:C:T Identity +NM_001077182.3:c.1457G>C NP_001070650.1:p.Arg486Pro NC_000017.11:81536985:G:C p.(Arg486Pro) NC_000017.11:81536985:G:C p.(Arg486Pro) NC_000017.11:81536985:G:C Identity +NM_000327.4:c.92C>G NP_000318.2:p.Ala31Gly NC_000011.10:62613372:C:G p.(Ala31Gly) NC_000011.10:62613372:C:G p.(Ala31Gly) NC_000011.10:62613372:C:G Identity +NM_000329.3:c.716dup NP_000320.1:p.Tyr239Ter NC_000001.11:68439569:T:TT p.(Tyr239Ter) NC_000001.11:68439569:T:TT p.(Tyr239Ter) ERR:SPDI Identity +NM_001407947.1:c.5243C>T NP_001394876.1:p.Pro1748Leu NC_000017.11:43045693:G:A p.(Pro1748Leu) NC_000017.11:43045693:G:A p.(Pro1748Leu) NC_000017.11:43045693:G:A Identity +NM_021961.6:c.718G>A NP_068780.2:p.Val240Met NC_000011.10:12901957:G:A p.(Val240Met) NC_000011.10:12901957:G:A p.(Val240Met) NC_000011.10:12901957:G:A Identity +NM_001037.5:c.431T>C NP_001028.1:p.Ile144Thr NC_000019.10:35033721:T:C p.(Ile144Thr) NC_000019.10:35033721:T:C p.(Ile144Thr) NC_000019.10:35033721:T:C Identity +NM_001080442.3:c.439G>A NP_001073911.1:p.Ala147Thr NC_000016.10:84033418:C:T p.(Ala147Thr) NC_000016.10:84033418:C:T p.(Ala147Thr) NC_000016.10:84033418:C:T Identity +NM_003718.5:c.1169G>A NP_003709.3:p.Ser390Asn NC_000007.14:39951809:G:A p.(Ser390Asn) NC_000007.14:39951809:G:A p.(Ser390Asn) NC_000007.14:39951809:G:A Identity +NM_001320759.2:c.450G>T NP_001307688.1:p.Gln150His NC_000017.11:18302342:C:A p.(Gln150His) NC_000017.11:18302342:C:A p.(Gln150His) NC_000017.11:18302342:C:A Identity +NM_001301012.2:c.539C>T NP_001287941.1:p.Thr180Ile NC_000006.12:133462740:C:T p.(Thr180Ile) NC_000006.12:133462740:C:T p.(Thr180Ile) NC_000006.12:133462740:C:T Identity +NM_000335.5:c.5305A>G NP_000326.2:p.Ile1769Val NC_000003.12:38551063:T:C p.(Ile1769Val) NC_000003.12:38551063:T:C p.(Ile1769Val) NC_000003.12:38551063:T:C Identity +NM_001145715.3:c.1102G>T NP_001139187.1:p.Val368Phe NC_000007.14:99184960:C:A p.(Val368Phe) NC_000007.14:99184960:C:A p.(Val368Phe) NC_000007.14:99184960:C:A Identity +NM_006059.4:c.1030C>A NP_006050.3:p.Arg344Ser NC_000009.12:131038916:C:A p.(Arg344Ser) NC_000009.12:131038916:C:A p.(Arg344Ser) NC_000009.12:131038916:C:A Identity +NM_001271667.2:c.80T>C NP_001258596.1:p.Ile27Thr NC_000006.12:15627374:A:G p.(Ile27Thr) NC_000006.12:15627374:A:G p.(Ile27Thr) NC_000006.12:15627374:A:G Identity +NM_000195.5:c.826C>G NP_000186.2:p.Pro276Ala NC_000010.11:98429831:G:C p.(Pro276Ala) NC_000010.11:98429831:G:C p.(Pro276Ala) NC_000010.11:98429831:G:C Identity +NM_031935.3:c.8785C>G NP_114141.2:p.Gln2929Glu NC_000001.11:186081391:C:G p.(Gln2929Glu) NC_000001.11:186081391:C:G p.(Gln2929Glu) NC_000001.11:186081391:C:G Identity +NM_016562.4:c.2785G>C NP_057646.1:p.Glu929Gln NC_000023.11:12888292:G:C p.(Glu929Gln) NC_000023.11:12888292:G:C p.(Glu929Gln) NC_000023.11:12888292:G:C Identity +NM_004525.3:c.12277C>A NP_004516.2:p.Pro4093Thr NC_000002.12:169154477:G:T p.(Pro4093Thr) NC_000002.12:169154477:G:T p.(Pro4093Thr) NC_000002.12:169154477:G:T Identity +NM_001271999.2:c.1312A>C NP_001258928.1:p.Asn438His NC_000001.11:62625371:T:G p.(Asn438His) NC_000001.11:62625371:T:G p.(Asn438His) NC_000001.11:62625371:T:G Identity +NM_006767.4:c.612_613del NP_006758.2:p.Ile205fs NC_000022.11:20989642:AA: p.(Ile205TrpfsTer54) NC_000022.11:20989642:AA: p.(Ile205TrpfsTer54) NC_000022.11:20989642:AA: Analogous +NM_001099952.4:c.5117G>A NP_001093422.2:p.Gly1706Glu NC_000003.12:4733127:G:A p.(Gly1706Glu) NC_000003.12:4733127:G:A p.(Gly1706Glu) NC_000003.12:4733127:G:A Identity +NM_005876.5:c.1666C>G NP_005867.3:p.Pro556Ala NC_000002.12:219448823:C:G p.(Pro556Ala) NC_000002.12:219448823:C:G p.(Pro556Ala) NC_000002.12:219448823:C:G Identity +NM_001256007.3:c.1576A>G NP_001242936.1:p.Ser526Gly NC_000007.14:108496632:T:C p.(Ser526Gly) NC_000007.14:108496632:T:C p.(Ser526Gly) NC_000007.14:108496632:T:C Identity +NM_001030311.3:c.4C>A NP_001025482.1:p.Pro2Thr NC_000002.12:181657002:G:T p.(Pro2Thr) NC_000002.12:181657002:G:T p.(Pro2Thr) NC_000002.12:181657002:G:T Identity +NM_001145847.2:c.983C>G NP_001139319.1:p.Pro328Arg NC_000004.12:16016232:G:C p.(Pro328Arg) NC_000004.12:16016232:G:C p.(Pro328Arg) NC_000004.12:16016232:G:C Identity +NM_032806.6:c.561C>G NP_116195.2:p.His187Gln NC_000003.12:43080870:G:C p.(His187Gln) NC_000003.12:43080870:G:C p.(His187Gln) NC_000003.12:43080870:G:C Identity +NM_017934.7:c.3476A>G NP_060404.4:p.Asn1159Ser NC_000006.12:78963155:T:C p.(Asn1159Ser) NC_000006.12:78963155:T:C p.(Asn1159Ser) NC_000006.12:78963155:T:C Identity +NM_003482.4:c.6285dup NP_003473.3:p.Lys2096Ter NC_000012.12:49041484:A:AA p.(Lys2096Ter) NC_000012.12:49041484:A:AA p.(Lys2096Ter) ERR:SPDI Identity +NM_001178130.3:c.659A>G NP_001171601.1:p.Asn220Ser NC_000004.12:109943990:A:G p.(Asn220Ser) NC_000004.12:109943990:A:G p.(Asn220Ser) NC_000004.12:109943990:A:G Identity +NM_000065.5:c.826G>A NP_000056.2:p.Gly276Arg NC_000005.10:41181459:C:T p.(Gly276Arg) NC_000005.10:41181459:C:T p.(Gly276Arg) NC_000005.10:41181459:C:T Identity +NM_003172.4:c.28G>A NP_003163.1:p.Gly10Arg NC_000009.12:133356425:C:T p.(Gly10Arg) NC_000009.12:133356425:C:T p.(Gly10Arg) NC_000009.12:133356425:C:T Identity +NM_001317195.3:c.2219C>T NP_001304124.1:p.Pro740Leu NC_000016.10:68695861:C:T p.(Pro740Leu) NC_000016.10:68695861:C:T p.(Pro740Leu) NC_000016.10:68695861:C:T Identity +NM_001301226.2:c.470A>G NP_001288155.1:p.Asp157Gly NC_000009.12:35685455:T:C p.(Asp157Gly) NC_000009.12:35685455:T:C p.(Asp157Gly) NC_000009.12:35685455:T:C Identity +NM_001042572.3:c.1244G>A NP_001036037.1:p.Cys415Tyr NC_000015.10:92946082:G:A p.(Cys415Tyr) NC_000015.10:92946082:G:A p.(Cys415Tyr) NC_000015.10:92946082:G:A Identity +NM_012463.4:c.962A>G NP_036595.2:p.Asn321Ser NC_000012.12:123737194:A:G p.(Asn321Ser) NC_000012.12:123737194:A:G p.(Asn321Ser) NC_000012.12:123737194:A:G Identity +NM_001085049.3:c.85C>T NP_001078518.1:p.Leu29Phe NC_000003.12:138372967:C:T p.(Leu29Phe) NC_000003.12:138372967:C:T p.(Leu29Phe) NC_000003.12:138372967:C:T Identity +NM_003632.3:c.4111dup NP_003623.1:p.Asp1371fs NC_000017.11:42698863:GGG:GGGG p.(Asp1371GlyfsTer14) NC_000017.11:42698863:GGG:GGGG p.(Asp1371GlyfsTer14) ERR:SPDI Analogous +NM_000836.4:c.3137G>A NP_000827.2:p.Cys1046Tyr NC_000019.10:48443062:G:A p.(Cys1046Tyr) NC_000019.10:48443062:G:A p.(Cys1046Tyr) NC_000019.10:48443062:G:A Identity +NM_000346.4:c.868G>C NP_000337.1:p.Asp290His NC_000017.11:72123724:G:C p.(Asp290His) NC_000017.11:72123724:G:C p.(Asp290His) NC_000017.11:72123724:G:C Identity +NM_000444.6:c.2052_2058del NP_000435.3:p.Phe684fs NC_000023.11:22227592:CTTCCTG: p.(Phe684LeufsTer6) NC_000023.11:22227592:CTTCCTG: p.(Phe684LeufsTer6) NC_000023.11:22227592:CTTCCTG: Analogous +NM_022168.4:c.1261C>T NP_071451.2:p.Leu421Phe NC_000002.12:162282410:G:A p.(Leu421Phe) NC_000002.12:162282410:G:A p.(Leu421Phe) NC_000002.12:162282410:G:A Identity +NM_001410908.1:c.2788A>G NP_001397837.1:p.Ile930Val NC_000007.14:105106712:A:G p.(Ile930Val) NC_000007.14:105106712:A:G p.(Ile930Val) NC_000007.14:105106712:A:G Identity +NM_052859.4:c.4G>C NP_443091.1:p.Gly2Arg NC_000003.12:53130396:C:G p.(Gly2Arg) NC_000003.12:53130396:C:G p.(Gly2Arg) NC_000003.12:53130396:C:G Identity +NM_001042399.2:c.1414A>C NP_001035858.1:p.Lys472Gln NC_000012.12:94335593:T:G p.(Lys472Gln) NC_000012.12:94335593:T:G p.(Lys472Gln) NC_000012.12:94335593:T:G Identity +NM_001385197.1:c.2707C>G NP_001372126.1:p.Leu903Val NC_000019.10:10354519:G:C p.(Leu903Val) NC_000019.10:10354519:G:C p.(Leu903Val) NC_000019.10:10354519:G:C Identity +NM_139057.4:c.2218A>G NP_620688.2:p.Thr740Ala NC_000015.10:100053973:T:C p.(Thr740Ala) NC_000015.10:100053973:T:C p.(Thr740Ala) NC_000015.10:100053973:T:C Identity +NM_001174116.3:c.7783C>A NP_001167587.1:p.Leu2595Ile NC_000015.10:51464699:G:T p.(Leu2595Ile) NC_000015.10:51464699:G:T p.(Leu2595Ile) NC_000015.10:51464699:G:T Identity +NM_001173425.2:c.3G>C NP_001166896.1:p.Met1Ile NC_000009.12:114504798:C:G p.(Met1Ile) NC_000009.12:114504798:C:G p.Met1? NC_000009.12:114504798:C:G Identity +NM_001083885.3:c.1528C>G NP_001077354.2:p.Arg510Gly NC_000009.12:114402800:G:C p.(Arg510Gly) NC_000009.12:114402800:G:C p.(Arg510Gly) NC_000009.12:114402800:G:C Identity +NM_001346899.2:c.3190_3193del NP_001333828.1:p.Val1064fs NC_000007.14:55205306:CTGTCT:CT p.(Val1064IlefsTer6) NC_000007.14:55205306:CTGTCT:CT p.(Val1064IlefsTer6) NC_000007.14:55205308:GTCT: Analogous +NM_030780.5:c.343G>A NP_110407.2:p.Ala115Thr NC_000008.11:103404823:C:T p.(Ala115Thr) NC_000008.11:103404823:C:T p.(Ala115Thr) NC_000008.11:103404823:C:T Identity +NM_001033604.2:c.763C>T NP_001028776.1:p.Gln255Ter NC_000007.14:33273071:C:T p.(Gln255Ter) NC_000007.14:33273071:C:T p.(Gln255Ter) NC_000007.14:33273071:C:T Identity +NM_138694.4:c.47T>A NP_619639.3:p.Leu16Ter NC_000006.12:52084886:A:T p.(Leu16Ter) NC_000006.12:52084886:A:T p.(Leu16Ter) NC_000006.12:52084886:A:T Identity +NM_030582.4:c.199dup NP_085059.2:p.Arg67fs NC_000021.9:45455723:CCCCCC:CCCCCCC p.(Arg67ProfsTer15) NC_000021.9:45455723:CCCCCC:CCCCCCC p.(Arg67ProfsTer15) ERR:SPDI Analogous +NM_001128844.3:c.170C>A NP_001122316.1:p.Pro57His NC_000019.10:10984320:C:A p.(Pro57His) NC_000019.10:10984320:C:A p.(Pro57His) NC_000019.10:10984320:C:A Identity +NM_001378454.1:c.3728A>G NP_001365383.1:p.Glu1243Gly NC_000002.12:73450254:A:G p.(Glu1243Gly) NC_000002.12:73450254:A:G p.(Glu1243Gly) NC_000002.12:73450254:A:G Identity +NM_001276270.2:c.1276C>T NP_001263199.1:p.Arg426Cys NC_000003.12:129433966:G:A p.(Arg426Cys) NC_000003.12:129433966:G:A p.(Arg426Cys) NC_000003.12:129433966:G:A Identity +NM_001035.3:c.2764T>A NP_001026.2:p.Ser922Thr NC_000001.11:237511732:T:A p.(Ser922Thr) NC_000001.11:237511732:T:A p.(Ser922Thr) NC_000001.11:237511732:T:A Identity +NM_001692.4:c.1394G>C NP_001683.2:p.Arg465Pro NC_000002.12:70964972:G:C p.(Arg465Pro) NC_000002.12:70964972:G:C p.(Arg465Pro) NC_000002.12:70964972:G:C Identity +NM_001032289.3:c.528T>C NP_001027460.1:p.Ala176= NC_000023.11:48904790:A:G p.(Ala176=) NC_000023.11:48904790:A:G p.(Ala176=) NC_000023.11:48904790:A:G Identity +NM_001286838.1:c.822G>A NP_001273767.1:p.Met274Ile NC_000004.12:93224756:G:A p.(Met274Ile) NC_000004.12:93224756:G:A p.(Met274Ile) NC_000004.12:93224756:G:A Identity +NM_152468.5:c.371T>C NP_689681.2:p.Leu124Pro NC_000017.11:78132430:T:C p.(Leu124Pro) NC_000017.11:78132430:T:C p.(Leu124Pro) NC_000017.11:78132430:T:C Identity +NM_033087.4:c.452T>C NP_149078.1:p.Leu151Pro NC_000009.12:99218732:A:G p.(Leu151Pro) NC_000009.12:99218732:A:G p.(Leu151Pro) NC_000009.12:99218732:A:G Identity +NM_000310.4:c.410T>C NP_000301.1:p.Ile137Thr NC_000001.11:40091351:A:G p.(Ile137Thr) NC_000001.11:40091351:A:G p.(Ile137Thr) NC_000001.11:40091351:A:G Identity +NM_198075.4:c.1194T>A NP_932341.1:p.Tyr398Ter NC_000011.10:552580:T:A p.(Tyr398Ter) NC_000011.10:552580:T:A p.(Tyr398Ter) NC_000011.10:552580:T:A Identity +NM_001163771.2:c.28C>T NP_001157243.1:p.Leu10Phe NC_000006.12:33192212:G:A p.(Leu10Phe) NC_000006.12:33192212:G:A p.(Leu10Phe) NC_000006.12:33192212:G:A Identity +NM_001256876.3:c.265A>G NP_001243805.1:p.Thr89Ala NC_000009.12:711030:A:G p.(Thr89Ala) NC_000009.12:711030:A:G p.(Thr89Ala) NC_000009.12:711030:A:G Identity +NM_001007188.4:c.722C>G NP_001007189.1:p.Ser241Ter NC_000022.11:31792771:C:G p.(Ser241Ter) NC_000022.11:31792771:C:G p.(Ser241Ter) NC_000022.11:31792771:C:G Identity +NM_004304.5:c.1545A>C NP_004295.2:p.Gln515His NC_000002.12:29320751:T:G p.(Gln515His) NC_000002.12:29320751:T:G p.(Gln515His) NC_000002.12:29320751:T:G Identity +NM_033071.5:c.12940A>G NP_149062.2:p.Met4314Val NC_000006.12:152331531:T:C p.(Met4314Val) NC_000006.12:152331531:T:C p.(Met4314Val) NC_000006.12:152331531:T:C Identity +NM_006623.4:c.1394del NP_006614.2:p.Leu465fs NC_000001.11:119742990:T: p.(Leu465ArgfsTer17) NC_000001.11:119742990:T: p.(Leu465ArgfsTer17) NC_000001.11:119742990:T: Analogous +NM_001291285.3:c.13166C>T NP_001278214.1:p.Ser4389Leu NC_000004.12:125489984:C:T p.(Ser4389Leu) NC_000004.12:125489984:C:T p.(Ser4389Leu) NC_000004.12:125489984:C:T Identity +NM_001029882.3:c.2855C>T NP_001025053.1:p.Ser952Leu NC_000001.11:27549260:G:A p.(Ser952Leu) NC_000001.11:27549260:G:A p.(Ser952Leu) NC_000001.11:27549260:G:A Identity +NM_014918.5:c.727C>G NP_055733.2:p.Leu243Val NC_000015.10:101235170:G:C p.(Leu243Val) NC_000015.10:101235170:G:C p.(Leu243Val) NC_000015.10:101235170:G:C Identity +NM_001159291.2:c.2147C>T NP_001152763.1:p.Thr716Ile NC_000006.12:109446311:G:A p.(Thr716Ile) NC_000006.12:109446311:G:A p.(Thr716Ile) NC_000006.12:109446311:G:A Identity +NM_001291860.2:c.8780C>T NP_001278789.1:p.Pro2927Leu NC_000001.11:21842902:G:A p.(Pro2927Leu) NC_000001.11:21842902:G:A p.(Pro2927Leu) NC_000001.11:21842902:G:A Identity +NM_001177984.3:c.1581G>T NP_001171455.1:p.Lys527Asn NC_000012.12:51706660:G:T p.(Lys527Asn) NC_000012.12:51706660:G:T p.(Lys527Asn) NC_000012.12:51706660:G:T Identity +NM_001277115.2:c.10765A>T NP_001264044.1:p.Asn3589Tyr NC_000007.14:21842616:A:T p.(Asn3589Tyr) NC_000007.14:21842616:A:T p.(Asn3589Tyr) NC_000007.14:21842616:A:T Identity +NM_001004334.4:c.5414A>T NP_001004334.3:p.Glu1805Val NC_000017.11:38328154:T:A p.(Glu1805Val) NC_000017.11:38328154:T:A p.(Glu1805Val) NC_000017.11:38328154:T:A Identity +NM_006662.3:c.5940G>A NP_006653.2:p.Met1980Ile NC_000016.10:30729384:G:A p.(Met1980Ile) NC_000016.10:30729384:G:A p.(Met1980Ile) NC_000016.10:30729384:G:A Identity +NM_001257965.2:c.668G>T NP_001244894.1:p.Gly223Val NC_000001.11:197347365:G:T p.(Gly223Val) NC_000001.11:197347365:G:T p.(Gly223Val) NC_000001.11:197347365:G:T Identity +NM_001256182.2:c.4310C>T NP_001243111.1:p.Pro1437Leu NC_000016.10:89282231:G:A p.(Pro1437Leu) NC_000016.10:89282231:G:A p.(Pro1437Leu) NC_000016.10:89282231:G:A Identity +NM_001165255.2:c.61del NP_001158727.1:p.Ala21fs NC_000007.14:157006633:CC:C p.(Ala21ArgfsTer53) NC_000007.14:157006633:CC:C p.(Ala21ArgfsTer53) NC_000007.14:157006633:C: Analogous +NM_001143838.3:c.1484T>C NP_001137310.1:p.Phe495Ser NC_000017.11:6686291:A:G p.(Phe495Ser) NC_000017.11:6686291:A:G p.(Phe495Ser) NC_000017.11:6686291:A:G Identity +NM_001365819.1:c.2873C>T NP_001352748.1:p.Pro958Leu NC_000022.11:50461255:G:A p.(Pro958Leu) NC_000022.11:50461255:G:A p.(Pro958Leu) NC_000022.11:50461255:G:A Identity +NM_001099222.3:c.643A>G NP_001092692.1:p.Thr215Ala NC_000009.12:27009074:A:G p.(Thr215Ala) NC_000009.12:27009074:A:G p.(Thr215Ala) NC_000009.12:27009074:A:G Identity +NM_001127244.2:c.1600T>C NP_001120716.1:p.Tyr534His NC_000009.12:128908763:T:C p.(Tyr534His) NC_000009.12:128908763:T:C p.(Tyr534His) NC_000009.12:128908763:T:C Identity +NM_001321268.2:c.862C>T NP_001308197.1:p.His288Tyr NC_000017.11:58206483:G:A p.(His288Tyr) NC_000017.11:58206483:G:A p.(His288Tyr) NC_000017.11:58206483:G:A Identity +NM_001130698.2:c.1967T>C NP_001124170.1:p.Leu656Pro NC_000004.12:121907392:A:G p.(Leu656Pro) NC_000004.12:121907392:A:G p.(Leu656Pro) NC_000004.12:121907392:A:G Identity +NM_003647.3:c.98C>G NP_003638.1:p.Pro33Arg NC_000017.11:56834892:C:G p.(Pro33Arg) NC_000017.11:56834892:C:G p.(Pro33Arg) NC_000017.11:56834892:C:G Identity +NM_001377289.1:c.83C>A NP_001364218.1:p.Pro28Gln NC_000006.12:70281453:G:T p.(Pro28Gln) NC_000006.12:70281453:G:T p.(Pro28Gln) NC_000006.12:70281453:G:T Identity +NM_000445.5:c.11638G>A NP_000436.2:p.Glu3880Lys NC_000008.11:143918263:C:T p.(Glu3880Lys) NC_000008.11:143918263:C:T p.(Glu3880Lys) NC_000008.11:143918263:C:T Identity +NM_001379511.1:c.2321T>G NP_001366440.1:p.Leu774Arg NC_000007.14:107203522:A:C p.(Leu774Arg) NC_000007.14:107203522:A:C p.(Leu774Arg) NC_000007.14:107203522:A:C Identity +NM_001352253.3:c.419C>T NP_001339182.1:p.Ala140Val NC_000013.11:110687992:G:A p.(Ala140Val) NC_000013.11:110687992:G:A p.(Ala140Val) NC_000013.11:110687992:G:A Identity +NM_001293557.2:c.2106G>T NP_001280486.1:p.Glu702Asp NC_000016.10:50712097:G:T p.(Glu702Asp) NC_000016.10:50712097:G:T p.(Glu702Asp) NC_000016.10:50712097:G:T Identity +NM_030753.5:c.259C>T NP_110380.1:p.Arg87Cys NC_000017.11:46773730:G:A p.(Arg87Cys) NC_000017.11:46773730:G:A p.(Arg87Cys) NC_000017.11:46773730:G:A Identity +NM_001040428.4:c.994G>T NP_001035518.1:p.Glu332Ter NC_000014.9:88433141:G:T p.(Glu332Ter) NC_000014.9:88433141:G:T p.(Glu332Ter) NC_000014.9:88433141:G:T Identity +NM_001163813.2:c.655A>G NP_001157285.1:p.Thr219Ala NC_000010.11:100993471:A:G p.(Thr219Ala) NC_000010.11:100993471:A:G p.(Thr219Ala) NC_000010.11:100993471:A:G Identity +NM_000275.3:c.1184T>C NP_000266.2:p.Met395Thr NC_000015.10:27986641:A:G p.(Met395Thr) NC_000015.10:27986641:A:G p.(Met395Thr) NC_000015.10:27986641:A:G Identity +NM_001005752.2:c.241C>G NP_001005752.1:p.Leu81Val NC_000001.11:34785002:C:G p.(Leu81Val) NC_000001.11:34785002:C:G p.(Leu81Val) NC_000001.11:34785002:C:G Identity +NM_001377289.1:c.1790T>C NP_001364218.1:p.Leu597Ser NC_000006.12:70232596:A:G p.(Leu597Ser) NC_000006.12:70232596:A:G p.(Leu597Ser) NC_000006.12:70232596:A:G Identity +NM_001277126.2:c.62A>T NP_001264055.1:p.Glu21Val NC_000019.10:53824112:T:A p.(Glu21Val) NC_000019.10:53824112:T:A p.(Glu21Val) NC_000019.10:53824112:T:A Identity +NM_000790.4:c.266T>C NP_000781.2:p.Met89Thr NC_000007.14:50539963:A:G p.(Met89Thr) NC_000007.14:50539963:A:G p.(Met89Thr) NC_000007.14:50539963:A:G Identity +NM_001135597.2:c.4226T>A NP_001129069.1:p.Ile1409Asn NC_000002.12:55308966:A:T p.(Ile1409Asn) NC_000002.12:55308966:A:T p.(Ile1409Asn) NC_000002.12:55308966:A:T Identity +NM_001291902.2:c.1922G>A NP_001278831.1:p.Gly641Asp NC_000011.10:68429601:G:A p.(Gly641Asp) NC_000011.10:68429601:G:A p.(Gly641Asp) NC_000011.10:68429601:G:A Identity +NM_000293.3:c.10del NP_000284.1:p.Ala4fs NC_000016.10:47461355:GGGGG:GGGG p.(Ala4ArgfsTer8) NC_000016.10:47461355:GGGGG:GGGG p.(Ala4ArgfsTer8) NC_000016.10:47461359:G: Analogous +NM_001367624.2:c.425T>C NP_001354553.1:p.Leu142Pro NC_000016.10:88427894:T:C p.(Leu142Pro) NC_000016.10:88427894:T:C p.(Leu142Pro) NC_000016.10:88427894:T:C Identity +NM_001004356.3:c.415C>T NP_001004356.1:p.Pro139Ser NC_000004.12:1023702:C:T p.(Pro139Ser) NC_000004.12:1023702:C:T p.(Pro139Ser) NC_000004.12:1023702:C:T Identity +NM_021569.4:c.1798_1805del NP_067544.1:p.Ala600fs NC_000009.12:137162446:GACGCACTGAC:GAC p.(Ala600ProfsTer197) NC_000009.12:137162446:GACGCACTGAC:GAC p.(Ala600ProfsTer197) NC_000009.12:137162449:GCACTGAC: Analogous +NM_000350.3:c.3758C>A NP_000341.2:p.Thr1253Lys NC_000001.11:94037199:G:T p.(Thr1253Lys) NC_000001.11:94037199:G:T p.(Thr1253Lys) NC_000001.11:94037199:G:T Identity +NM_001256324.2:c.6524dup NP_001243253.1:p.Ser2176fs NC_000017.11:50626325:CCCCC:CCCCCC p.(Ser2176IlefsTer26) NC_000017.11:50626325:CCCCC:CCCCCC p.(Ser2176IlefsTer26) ERR:SPDI Analogous +NM_001379141.1:c.1099G>A NP_001366070.1:p.Gly367Arg NC_000018.10:44950438:G:A p.(Gly367Arg) NC_000018.10:44950438:G:A p.(Gly367Arg) NC_000018.10:44950438:G:A Identity +NM_000335.5:c.4108T>G NP_000326.2:p.Leu1370Val NC_000003.12:38560280:A:C p.(Leu1370Val) NC_000003.12:38560280:A:C p.(Leu1370Val) NC_000003.12:38560280:A:C Identity +NM_001280541.2:c.509G>A NP_001267470.1:p.Trp170Ter NC_000003.12:129463565:G:A p.(Trp170Ter) NC_000003.12:129463565:G:A p.(Trp170Ter) NC_000003.12:129463565:G:A Identity +NM_001242581.2:c.1187C>A NP_001229510.1:p.Ala396Asp NC_000020.11:19975064:C:A p.(Ala396Asp) NC_000020.11:19975064:C:A p.(Ala396Asp) NC_000020.11:19975064:C:A Identity +NM_001042472.3:c.653G>C NP_001035937.1:p.Arg218Pro NC_000020.11:25309541:C:G p.(Arg218Pro) NC_000020.11:25309541:C:G p.(Arg218Pro) NC_000020.11:25309541:C:G Identity +NM_206933.4:c.6382T>C NP_996816.3:p.Cys2128Arg NC_000001.11:216000505:A:G p.(Cys2128Arg) NC_000001.11:216000505:A:G p.(Cys2128Arg) NC_000001.11:216000505:A:G Identity +NM_001135597.2:c.2629A>G NP_001129069.1:p.Lys877Glu NC_000002.12:55334191:T:C p.(Lys877Glu) NC_000002.12:55334191:T:C p.(Lys877Glu) NC_000002.12:55334191:T:C Identity +NM_144643.4:c.1577A>G NP_653244.2:p.Glu526Gly NC_000004.12:128943050:T:C p.(Glu526Gly) NC_000004.12:128943050:T:C p.(Glu526Gly) NC_000004.12:128943050:T:C Identity +NM_001411025.1:c.3631C>T NP_001397954.1:p.Leu1211Phe NC_000011.10:66699571:G:A p.(Leu1211Phe) NC_000011.10:66699571:G:A p.(Leu1211Phe) NC_000011.10:66699571:G:A Identity +NM_001348036.1:c.625G>T NP_001334965.1:p.Val209Leu NC_000007.14:33264296:G:T p.(Val209Leu) NC_000007.14:33264296:G:T p.(Val209Leu) NC_000007.14:33264296:G:T Identity +NM_000836.4:c.22C>A NP_000827.2:p.Arg8Ser NC_000019.10:48398413:C:A p.(Arg8Ser) NC_000019.10:48398413:C:A p.(Arg8Ser) NC_000019.10:48398413:C:A Identity +NM_001161520.2:c.1304C>G NP_001154992.2:p.Pro435Arg NC_000007.14:107298150:G:C p.(Pro435Arg) NC_000007.14:107298150:G:C p.(Pro435Arg) NC_000007.14:107298150:G:C Identity +NM_000815.5:c.14C>T NP_000806.2:p.Ala5Val NC_000001.11:2019436:C:T p.(Ala5Val) NC_000001.11:2019436:C:T p.(Ala5Val) NC_000001.11:2019436:C:T Identity +NM_004370.6:c.4245T>A NP_004361.3:p.Tyr1415Ter NC_000006.12:75148399:A:T p.(Tyr1415Ter) NC_000006.12:75148399:A:T p.(Tyr1415Ter) NC_000006.12:75148399:A:T Identity +NM_001130144.3:c.3529T>C NP_001123616.1:p.Cys1177Arg NC_000011.10:65539737:A:G p.(Cys1177Arg) NC_000011.10:65539737:A:G p.(Cys1177Arg) NC_000011.10:65539737:A:G Identity +NM_133259.4:c.328A>G NP_573566.2:p.Asn110Asp NC_000002.12:43982255:T:C p.(Asn110Asp) NC_000002.12:43982255:T:C p.(Asn110Asp) NC_000002.12:43982255:T:C Identity +NM_001407296.1:c.3241_3245dup NP_001394225.1:p.Val1083Serfs NC_000016.10:23607907:GCTGAG:GCTGAGCTGAG p.(Val1083SerfsTer5) NC_000016.10:23607907:GCTGAG:GCTGAGCTGAG p.(Val1083SerfsTer5) ERR:SPDI Analogous +NM_000051.4:c.377A>C NP_000042.3:p.Asp126Ala NC_000011.10:108235714:A:C p.(Asp126Ala) NC_000011.10:108235714:A:C p.(Asp126Ala) NC_000011.10:108235714:A:C Identity +NM_002876.4:c.109del NP_002867.1:p.Glu37fs NC_000017.11:58692750:GG:G p.(Glu37AsnfsTer3) NC_000017.11:58692750:GG:G p.(Glu37AsnfsTer3) NC_000017.11:58692751:G: Analogous +NM_000350.3:c.5756A>T NP_000341.2:p.Asp1919Val NC_000001.11:94008829:T:A p.(Asp1919Val) NC_000001.11:94008829:T:A p.(Asp1919Val) NC_000001.11:94008829:T:A Identity +NM_000361.3:c.38C>A NP_000352.1:p.Ala13Asp NC_000020.11:23049466:G:T p.(Ala13Asp) NC_000020.11:23049466:G:T p.(Ala13Asp) NC_000020.11:23049466:G:T Identity +NM_000428.3:c.4650C>A NP_000419.1:p.His1550Gln NC_000014.9:74503538:G:T p.(His1550Gln) NC_000014.9:74503538:G:T p.(His1550Gln) NC_000014.9:74503538:G:T Identity +NM_001376.5:c.13561A>G NP_001367.2:p.Ile4521Val NC_000014.9:102049758:A:G p.(Ile4521Val) NC_000014.9:102049758:A:G p.(Ile4521Val) NC_000014.9:102049758:A:G Identity +NM_001353210.3:c.1082_1084del NP_001340139.1:p.Ile361del NC_000018.10:49282034:TAATA:TA p.(Ile361del) NC_000018.10:49282034:TAATA:TA p.(Ile361del) NC_000018.10:49282034:TAA: Identity +NM_201550.4:c.510G>T NP_963844.2:p.Arg170Ser NC_000012.12:69610328:C:A p.(Arg170Ser) NC_000012.12:69610328:C:A p.(Arg170Ser) NC_000012.12:69610328:C:A Identity +NM_001048166.1:c.1013A>C NP_001041631.1:p.His338Pro NC_000001.11:47289444:T:G p.(His338Pro) NC_000001.11:47289444:T:G p.(His338Pro) NC_000001.11:47289444:T:G Identity +NM_000109.4:c.95T>A NP_000100.3:p.Leu32His NC_000023.11:32849794:A:T p.(Leu32His) NC_000023.11:32849794:A:T p.(Leu32His) NC_000023.11:32849794:A:T Identity +NM_001134830.2:c.707A>C NP_001128302.1:p.Lys236Thr NC_000006.12:135465855:T:G p.(Lys236Thr) NC_000006.12:135465855:T:G p.(Lys236Thr) NC_000006.12:135465855:T:G Identity +NM_001256849.1:c.539G>C NP_001243778.1:p.Arg180Thr NC_000019.10:50402073:G:C p.(Arg180Thr) NC_000019.10:50402073:G:C p.(Arg180Thr) NC_000019.10:50402073:G:C Identity +NM_000124.4:c.1356C>A NP_000115.1:p.Tyr452Ter NC_000010.11:49524073:G:T p.(Tyr452Ter) NC_000010.11:49524073:G:T p.(Tyr452Ter) NC_000010.11:49524073:G:T Identity +NM_000382.3:c.171C>G NP_000373.1:p.Tyr57Ter NC_000017.11:19651563:C:G p.(Tyr57Ter) NC_000017.11:19651563:C:G p.(Tyr57Ter) NC_000017.11:19651563:C:G Identity +NM_001411127.1:c.4409G>T NP_001398056.1:p.Arg1470Leu NC_000019.10:40394227:C:A p.(Arg1470Leu) NC_000019.10:40394227:C:A p.(Arg1470Leu) NC_000019.10:40394227:C:A Identity +NM_001098511.3:c.430G>A NP_001091981.1:p.Ala144Thr NC_000005.10:62352682:G:A p.(Ala144Thr) NC_000005.10:62352682:G:A p.(Ala144Thr) NC_000005.10:62352682:G:A Identity +NM_001252678.2:c.778dup NP_001239607.1:p.Glu260fs NC_000015.10:72736803:GGGG:GGGGG p.(Glu260GlyfsTer10) NC_000015.10:72736803:GGGG:GGGGG p.(Glu260GlyfsTer10) ERR:SPDI Analogous +NM_001040142.2:c.1898G>A NP_001035232.1:p.Arg633Lys NC_000002.12:165323381:G:A p.(Arg633Lys) NC_000002.12:165323381:G:A p.(Arg633Lys) NC_000002.12:165323381:G:A Identity +NM_005055.5:c.79C>T NP_005046.2:p.Gln27Ter NC_000011.10:47448885:G:A p.(Gln27Ter) NC_000011.10:47448885:G:A p.(Gln27Ter) NC_000011.10:47448885:G:A Identity +NM_000188.3:c.2569A>T NP_000179.2:p.Thr857Ser NC_000010.11:69398787:A:T p.(Thr857Ser) NC_000010.11:69398787:A:T p.(Thr857Ser) NC_000010.11:69398787:A:T Identity +NM_001143838.3:c.503C>T NP_001137310.1:p.Ala168Val NC_000017.11:6703921:G:A p.(Ala168Val) NC_000017.11:6703921:G:A p.(Ala168Val) NC_000017.11:6703921:G:A Identity +NM_000371.4:c.434C>A NP_000362.1:p.Pro145His NC_000018.10:31598664:C:A p.(Pro145His) NC_000018.10:31598664:C:A p.(Pro145His) NC_000018.10:31598664:C:A Identity +NM_000548.5:c.5246G>C NP_000539.2:p.Arg1749Pro NC_000016.10:2088311:G:C p.(Arg1749Pro) NC_000016.10:2088311:G:C p.(Arg1749Pro) NC_000016.10:2088311:G:C Identity +NM_015102.5:c.1525G>T NP_055917.1:p.Ala509Ser NC_000001.11:5907200:C:A p.(Ala509Ser) NC_000001.11:5907200:C:A p.(Ala509Ser) NC_000001.11:5907200:C:A Identity +NM_032119.4:c.298G>A NP_115495.3:p.Val100Ile NC_000005.10:90617893:G:A p.(Val100Ile) NC_000005.10:90617893:G:A p.(Val100Ile) NC_000005.10:90617893:G:A Identity +NM_016562.4:c.2893G>A NP_057646.1:p.Glu965Lys NC_000023.11:12888400:G:A p.(Glu965Lys) NC_000023.11:12888400:G:A p.(Glu965Lys) NC_000023.11:12888400:G:A Identity +NM_001272003.2:c.2560G>T NP_001258932.1:p.Ala854Ser NC_000009.12:135778787:G:T p.(Ala854Ser) NC_000009.12:135778787:G:T p.(Ala854Ser) NC_000009.12:135778787:G:T Identity +NM_000204.5:c.188dup NP_000195.3:p.Pro64fs NC_000004.12:109766693:A:AA p.(Pro64ThrfsTer15) NC_000004.12:109766693:A:AA p.(Pro64ThrfsTer15) ERR:SPDI Analogous +NM_001024688.3:c.1844G>A NP_001019859.1:p.Gly615Glu NC_000008.11:89943346:C:T p.(Gly615Glu) NC_000008.11:89943346:C:T p.(Gly615Glu) NC_000008.11:89943346:C:T Identity +NM_032656.4:c.3046A>G NP_116045.2:p.Lys1016Glu NC_000012.12:124950487:T:C p.(Lys1016Glu) NC_000012.12:124950487:T:C p.(Lys1016Glu) NC_000012.12:124950487:T:C Identity +NM_001171933.1:c.518A>G NP_001165404.1:p.Glu173Gly NC_000010.11:71799504:A:G p.(Glu173Gly) NC_000010.11:71799504:A:G p.(Glu173Gly) NC_000010.11:71799504:A:G Identity +NM_000751.3:c.1442TGG[2] NP_000742.1:p.Val483del NC_000002.12:232535199:TGGTGGTGG:TGGTGG p.(Val483del) NC_000002.12:232535199:T:TGGTGG ERR:Parse ERR:Parse Identity +NM_000251.3:c.349T>C NP_000242.1:p.Trp117Arg NC_000002.12:47408537:T:C p.(Trp117Arg) NC_000002.12:47408537:T:C p.(Trp117Arg) NC_000002.12:47408537:T:C Identity +NM_005120.3:c.3222C>G NP_005111.2:p.Ile1074Met NC_000023.11:71128307:C:G p.(Ile1074Met) NC_000023.11:71128307:C:G p.(Ile1074Met) NC_000023.11:71128307:C:G Identity +NM_000360.4:c.51del NP_000351.2:p.Val18fs NC_000011.10:2171735:GG:G p.(Val18CysfsTer65) NC_000011.10:2171735:GG:G p.(Val18CysfsTer65) NC_000011.10:2171735:G: Analogous +NM_001204182.2:c.703C>T NP_001191111.1:p.Arg235Ter NC_000001.11:211670342:G:A p.(Arg235Ter) NC_000001.11:211670342:G:A p.(Arg235Ter) NC_000001.11:211670342:G:A Identity +NM_052844.4:c.706G>A NP_443076.2:p.Gly236Arg NC_000009.12:128635764:C:T p.(Gly236Arg) NC_000009.12:128635764:C:T p.(Gly236Arg) NC_000009.12:128635764:C:T Identity +NM_001294332.2:c.1456G>A NP_001281261.1:p.Glu486Lys NC_000005.10:251039:G:A p.(Glu486Lys) NC_000005.10:251039:G:A p.(Glu486Lys) NC_000005.10:251039:G:A Identity +NM_001288951.2:c.2294T>C NP_001275880.1:p.Phe765Ser NC_000002.12:47060837:T:C p.(Phe765Ser) NC_000002.12:47060837:T:C p.(Phe765Ser) NC_000002.12:47060837:T:C Identity +NM_001148.6:c.6G>A NP_001139.3:p.Met2Ile NC_000004.12:113049733:G:A p.(Met2Ile) NC_000004.12:113049733:G:A p.(Met2Ile) NC_000004.12:113049733:G:A Identity +NM_001031714.4:c.3001A>G NP_001026884.3:p.Lys1001Glu NC_000014.9:104713566:A:G p.(Lys1001Glu) NC_000014.9:104713566:A:G p.(Lys1001Glu) NC_000014.9:104713566:A:G Identity +NM_001161504.2:c.1085A>G NP_001154976.1:p.Asp362Gly NC_000001.11:18876387:T:C p.(Asp362Gly) NC_000001.11:18876387:T:C p.(Asp362Gly) NC_000001.11:18876387:T:C Identity +NM_001204269.2:c.730T>C NP_001191198.1:p.Cys244Arg NC_000001.11:110604052:A:G p.(Cys244Arg) NC_000001.11:110604052:A:G p.(Cys244Arg) NC_000001.11:110604052:A:G Identity +NM_001271512.3:c.77G>A NP_001258441.1:p.Arg26Gln NC_000010.11:27240416:C:T p.(Arg26Gln) NC_000010.11:27240416:C:T p.(Arg26Gln) NC_000010.11:27240416:C:T Identity +NM_001010892.3:c.764T>C NP_001010892.1:p.Ile255Thr NC_000006.12:116622844:T:C p.(Ile255Thr) NC_000006.12:116622844:T:C p.(Ile255Thr) NC_000006.12:116622844:T:C Identity +NM_001282489.3:c.233T>C NP_001269418.1:p.Leu78Pro NC_000017.11:74920293:A:G p.(Leu78Pro) NC_000017.11:74920293:A:G p.(Leu78Pro) NC_000017.11:74920293:A:G Identity +NM_001244926.2:c.1414A>G NP_001231855.1:p.Thr472Ala NC_000009.12:113291507:A:G p.(Thr472Ala) NC_000009.12:113291507:A:G p.(Thr472Ala) NC_000009.12:113291507:A:G Identity +NM_000744.7:c.565A>G NP_000735.1:p.Ile189Val NC_000020.11:63350845:T:C p.(Ile189Val) NC_000020.11:63350845:T:C p.(Ile189Val) NC_000020.11:63350845:T:C Identity +NM_001143885.2:c.2182G>C NP_001137357.1:p.Glu728Gln NC_000012.12:79797304:C:G p.(Glu728Gln) NC_000012.12:79797304:C:G p.(Glu728Gln) NC_000012.12:79797304:C:G Identity +NM_001407952.1:c.954A>G NP_001394881.1:p.Ile318Met NC_000017.11:43094243:T:C p.(Ile318Met) NC_000017.11:43094243:T:C p.(Ile318Met) NC_000017.11:43094243:T:C Identity +NM_003320.5:c.1148A>G NP_003311.2:p.Tyr383Cys NC_000011.10:8097810:A:G p.(Tyr383Cys) NC_000011.10:8097810:A:G p.(Tyr383Cys) NC_000011.10:8097810:A:G Identity +NM_001318369.2:c.152T>C NP_001305298.1:p.Ile51Thr NC_000011.10:20607520:T:C p.(Ile51Thr) NC_000011.10:20607520:T:C p.(Ile51Thr) NC_000011.10:20607520:T:C Identity +NM_001184891.2:c.1102G>A NP_001171820.1:p.Gly368Ser NC_000001.11:154990366:G:A p.(Gly368Ser) NC_000001.11:154990366:G:A p.(Gly368Ser) NC_000001.11:154990366:G:A Identity +NM_017890.5:c.5597A>G NP_060360.3:p.Asn1866Ser NC_000008.11:99642111:A:G p.(Asn1866Ser) NC_000008.11:99642111:A:G p.(Asn1866Ser) NC_000008.11:99642111:A:G Identity +NM_001160147.2:c.98C>A NP_001153619.1:p.Ala33Glu NC_000014.9:53153000:G:T p.(Ala33Glu) NC_000014.9:53153000:G:T p.(Ala33Glu) NC_000014.9:53153000:G:T Identity +NM_001372031.1:c.1171_1172delinsAT NP_001358960.1:p.Ser391Ile NC_000011.10:112043506:TC:AT p.(Ser391Ile) NC_000011.10:112043506:TC:AT p.(Ser391Ile) NC_000011.10:112043506:TC:AT Identity +NM_001083885.3:c.526A>C NP_001077354.2:p.Asn176His NC_000009.12:114407969:T:G p.(Asn176His) NC_000009.12:114407969:T:G p.(Asn176His) NC_000009.12:114407969:T:G Identity +NM_001363260.1:c.322T>C NP_001350189.1:p.Tyr108His NC_000008.11:95259891:A:G p.(Tyr108His) NC_000008.11:95259891:A:G p.(Tyr108His) NC_000008.11:95259891:A:G Identity +NM_003052.5:c.1720_1721del NP_003043.3:p.Gln574fs NC_000005.10:177398084:ACA:A p.(Gln574AspfsTer30) NC_000005.10:177398084:ACA:A p.(Gln574AspfsTer30) NC_000005.10:177398085:CA: Analogous +NM_001411067.1:c.1932dup NP_001397996.1:p.Arg646Thrfs NC_000017.11:8232916:GGG:GGGG p.(Arg646ThrfsTer51) NC_000017.11:8232916:GGG:GGGG p.(Arg646ThrfsTer51) ERR:SPDI Analogous +NM_001278463.2:c.81A>C NP_001265392.1:p.Gln27His NC_000012.12:32679443:A:C p.(Gln27His) NC_000012.12:32679443:A:C p.(Gln27His) NC_000012.12:32679443:A:C Identity +NM_001363813.1:c.1421A>T NP_001350742.1:p.His474Leu NC_000017.11:65537614:T:A p.(His474Leu) NC_000017.11:65537614:T:A p.(His474Leu) NC_000017.11:65537614:T:A Identity +NM_001032282.4:c.521T>C NP_001027453.1:p.Phe174Ser NC_000008.11:102651777:A:G p.(Phe174Ser) NC_000008.11:102651777:A:G p.(Phe174Ser) NC_000008.11:102651777:A:G Identity +NM_001163435.3:c.1765G>A NP_001156907.2:p.Val589Ile NC_000004.12:106230371:C:T p.(Val589Ile) NC_000004.12:106230371:C:T p.(Val589Ile) NC_000004.12:106230371:C:T Identity +NM_001112808.3:c.2002G>T NP_001106279.3:p.Ala668Ser NC_000001.11:74370318:G:T p.(Ala668Ser) NC_000001.11:74370318:G:T p.(Ala668Ser) NC_000001.11:74370318:G:T Identity +NM_001178133.2:c.119A>G NP_001171604.1:p.Glu40Gly NC_000010.11:102504270:A:G p.(Glu40Gly) NC_000010.11:102504270:A:G p.(Glu40Gly) NC_000010.11:102504270:A:G Identity +NM_001306079.2:c.5196C>G NP_001293008.1:p.Ile1732Met NC_000002.12:27239461:C:G p.(Ile1732Met) NC_000002.12:27239461:C:G p.(Ile1732Met) NC_000002.12:27239461:C:G Identity +NM_004855.5:c.1208C>T NP_004846.4:p.Thr403Ile NC_000015.10:55350782:C:T p.(Thr403Ile) NC_000015.10:55350782:C:T p.(Thr403Ile) NC_000015.10:55350782:C:T Identity +NM_001099222.3:c.916G>C NP_001092692.1:p.Glu306Gln NC_000009.12:27017032:G:C p.(Glu306Gln) NC_000009.12:27017032:G:C p.(Glu306Gln) NC_000009.12:27017032:G:C Identity +NM_001271681.2:c.138G>T NP_001258610.1:p.Arg46Ser NC_000001.11:225923700:C:A p.(Arg46Ser) NC_000001.11:225923700:C:A p.(Arg46Ser) NC_000001.11:225923700:C:A Identity +NM_033109.5:c.1642G>A NP_149100.2:p.Ala548Thr NC_000002.12:55646446:C:T p.(Ala548Thr) NC_000002.12:55646446:C:T p.(Ala548Thr) NC_000002.12:55646446:C:T Identity +NM_001163813.2:c.431C>T NP_001157285.1:p.Pro144Leu NC_000010.11:100993247:C:T p.(Pro144Leu) NC_000010.11:100993247:C:T p.(Pro144Leu) NC_000010.11:100993247:C:T Identity +NM_001351273.1:c.6104T>G NP_001338202.1:p.Val2035Gly NC_000019.10:1469407:T:G p.(Val2035Gly) NC_000019.10:1469407:T:G p.(Val2035Gly) NC_000019.10:1469407:T:G Identity +NM_000152.5:c.2581G>C NP_000143.2:p.Asp861His NC_000017.11:80118291:G:C p.(Asp861His) NC_000017.11:80118291:G:C p.(Asp861His) NC_000017.11:80118291:G:C Identity +NM_002335.4:c.19G>C NP_002326.2:p.Gly7Arg NC_000011.10:68312732:G:C p.(Gly7Arg) NC_000011.10:68312732:G:C p.(Gly7Arg) NC_000011.10:68312732:G:C Identity +NM_007123.6:c.3371A>G NP_009054.6:p.Tyr1124Cys NC_000001.11:216200066:T:C p.(Tyr1124Cys) NC_000001.11:216200066:T:C p.(Tyr1124Cys) NC_000001.11:216200066:T:C Identity +NM_001243925.2:c.306T>G NP_001230854.1:p.Asp102Glu NC_000003.12:50640451:T:G p.(Asp102Glu) NC_000003.12:50640451:T:G p.(Asp102Glu) NC_000003.12:50640451:T:G Identity +NM_000465.4:c.817G>A NP_000456.2:p.Gly273Arg NC_000002.12:214781056:C:T p.(Gly273Arg) NC_000002.12:214781056:C:T p.(Gly273Arg) NC_000002.12:214781056:C:T Identity +NM_001114094.2:c.292C>G NP_001107566.1:p.Pro98Ala NC_000010.11:96227478:G:C p.(Pro98Ala) NC_000010.11:96227478:G:C p.(Pro98Ala) NC_000010.11:96227478:G:C Identity +NM_001191060.2:c.926G>A NP_001177989.1:p.Gly309Asp NC_000011.10:791960:C:T p.(Gly309Asp) NC_000011.10:791960:C:T p.(Gly309Asp) NC_000011.10:791960:C:T Identity +NM_001406559.1:c.1136G>A NP_001393488.1:p.Gly379Glu NC_000010.11:86919363:G:A p.(Gly379Glu) NC_000010.11:86919363:G:A p.(Gly379Glu) NC_000010.11:86919363:G:A Identity +NM_000414.4:c.1424C>T NP_000405.1:p.Ser475Leu NC_000005.10:119509230:C:T p.(Ser475Leu) NC_000005.10:119509230:C:T p.(Ser475Leu) NC_000005.10:119509230:C:T Identity +NM_001040610.3:c.2749G>A NP_001035700.1:p.Ala917Thr NC_000015.10:82151551:C:T p.(Ala917Thr) NC_000015.10:82151551:C:T p.(Ala917Thr) NC_000015.10:82151551:C:T Identity +NM_001160147.2:c.2000C>G NP_001153619.1:p.Pro667Arg NC_000014.9:53058489:G:C p.(Pro667Arg) NC_000014.9:53058489:G:C p.(Pro667Arg) NC_000014.9:53058489:G:C Identity +NM_015488.5:c.266G>C NP_056303.3:p.Gly89Ala NC_000002.12:218339811:G:C p.(Gly89Ala) NC_000002.12:218339811:G:C p.(Gly89Ala) NC_000002.12:218339811:G:C Identity +NM_001261406.2:c.2294A>G NP_001248335.1:p.Glu765Gly NC_000009.12:13188853:T:C p.(Glu765Gly) NC_000009.12:13188853:T:C p.(Glu765Gly) NC_000009.12:13188853:T:C Identity +NM_001171653.2:c.1367C>T NP_001165124.1:p.Ala456Val NC_000002.12:144399747:G:A p.(Ala456Val) NC_000002.12:144399747:G:A p.(Ala456Val) NC_000002.12:144399747:G:A Identity +NM_001256850.1:c.101679TGT[1] NP_001243779.1:p.Val33895del NC_000002.12:178529143:ACAACA:ACA p.(Val33895del) NC_000002.12:178529148:A:ACA ERR:Parse ERR:Parse Identity +NM_001166133.2:c.154C>T NP_001159605.1:p.His52Tyr NC_000004.12:78237554:C:T p.(His52Tyr) NC_000004.12:78237554:C:T p.(His52Tyr) NC_000004.12:78237554:C:T Identity +NM_000271.5:c.383A>G NP_000262.2:p.Asp128Gly NC_000018.10:23568902:T:C p.(Asp128Gly) NC_000018.10:23568902:T:C p.(Asp128Gly) NC_000018.10:23568902:T:C Identity +NM_001367830.1:c.3242G>A NP_001354759.1:p.Arg1081His NC_000019.10:11222837:C:T p.(Arg1081His) NC_000019.10:11222837:C:T p.(Arg1081His) NC_000019.10:11222837:C:T Identity +NM_001243925.2:c.340CTC[1] NP_001230854.1:p.Leu115del NC_000003.12:50640485:CTCCTC:CTC p.(Leu115del) NC_000003.12:50640485:C:CTC ERR:Parse ERR:Parse Identity +NM_001258040.3:c.491T>C NP_001244969.1:p.Ile164Thr NC_000005.10:140677926:A:G p.(Ile164Thr) NC_000005.10:140677926:A:G p.(Ile164Thr) NC_000005.10:140677926:A:G Identity +NM_001371986.1:c.6391C>G NP_001358915.1:p.Arg2131Gly NC_000002.12:209937555:C:G p.(Arg2131Gly) NC_000002.12:209937555:C:G p.(Arg2131Gly) NC_000002.12:209937555:C:G Identity +NM_001015051.4:c.817G>C NP_001015051.3:p.Ala273Pro NC_000006.12:45492071:G:C p.(Ala273Pro) NC_000006.12:45492071:G:C p.(Ala273Pro) NC_000006.12:45492071:G:C Identity +NM_001271938.2:c.8227C>T NP_001258867.1:p.Pro2743Ser NC_000019.10:42376463:C:T p.(Pro2743Ser) NC_000019.10:42376463:C:T p.(Pro2743Ser) NC_000019.10:42376463:C:T Identity +NM_017819.4:c.89G>A NP_060289.2:p.Arg30Lys NC_000003.12:101564869:G:A p.(Arg30Lys) NC_000003.12:101564869:G:A p.(Arg30Lys) NC_000003.12:101564869:G:A Identity +NM_000628.5:c.5C>T NP_000619.3:p.Ala2Val NC_000021.9:33266469:C:T p.(Ala2Val) NC_000021.9:33266469:C:T p.(Ala2Val) NC_000021.9:33266469:C:T Identity +NM_000426.4:c.6956G>C NP_000417.3:p.Arg2319Pro NC_000006.12:129460287:G:C p.(Arg2319Pro) NC_000006.12:129460287:G:C p.(Arg2319Pro) NC_000006.12:129460287:G:C Identity +NM_001282948.2:c.4328G>T NP_001269877.1:p.Gly1443Val NC_000010.11:63206794:C:A p.(Gly1443Val) NC_000010.11:63206794:C:A p.(Gly1443Val) NC_000010.11:63206794:C:A Identity +NM_000109.4:c.3771G>T NP_000100.3:p.Trp1257Cys NC_000023.11:32441305:C:A p.(Trp1257Cys) NC_000023.11:32441305:C:A p.(Trp1257Cys) NC_000023.11:32441305:C:A Identity +NM_014639.4:c.4263G>A NP_055454.1:p.Met1421Ile NC_000005.10:95478391:C:T p.(Met1421Ile) NC_000005.10:95478391:C:T p.(Met1421Ile) NC_000005.10:95478391:C:T Identity +NM_001164507.2:c.12660G>A NP_001157979.2:p.Trp4220Ter NC_000002.12:151606692:C:T p.(Trp4220Ter) NC_000002.12:151606692:C:T p.(Trp4220Ter) NC_000002.12:151606692:C:T Identity +NM_001040142.2:c.397A>G NP_001035232.1:p.Met133Val NC_000002.12:165307857:A:G p.(Met133Val) NC_000002.12:165307857:A:G p.(Met133Val) NC_000002.12:165307857:A:G Identity +NM_005559.4:c.2807dup NP_005550.2:p.Leu936fs NC_000018.10:7017278:AA:AAA p.(Leu936PhefsTer31) NC_000018.10:7017278:AA:AAA p.(Leu936PhefsTer31) ERR:SPDI Analogous +NM_001164716.1:c.724T>C NP_001158188.1:p.Phe242Leu NC_000011.10:64754703:A:G p.(Phe242Leu) NC_000011.10:64754703:A:G p.(Phe242Leu) NC_000011.10:64754703:A:G Identity +NM_001009999.3:c.1434A>T NP_001009999.1:p.Lys478Asn NC_000001.11:23071244:A:T p.(Lys478Asn) NC_000001.11:23071244:A:T p.(Lys478Asn) NC_000001.11:23071244:A:T Identity +NM_000158.4:c.162A>C NP_000149.4:p.Gln54His NC_000003.12:81705594:T:G p.(Gln54His) NC_000003.12:81705594:T:G p.(Gln54His) NC_000003.12:81705594:T:G Identity +NM_001510.4:c.331G>A NP_001501.2:p.Ala111Thr NC_000004.12:93085080:G:A p.(Ala111Thr) NC_000004.12:93085080:G:A p.(Ala111Thr) NC_000004.12:93085080:G:A Identity +NM_000319.5:c.968C>G NP_000310.2:p.Pro323Arg NC_000012.12:7207683:C:G p.(Pro323Arg) NC_000012.12:7207683:C:G p.(Pro323Arg) NC_000012.12:7207683:C:G Identity +NM_000248.4:c.452C>T NP_000239.1:p.Ser151Leu NC_000003.12:69949060:C:T p.(Ser151Leu) NC_000003.12:69949060:C:T p.(Ser151Leu) NC_000003.12:69949060:C:T Identity +NM_001355186.2:c.905G>T NP_001342115.1:p.Gly302Val NC_000003.12:43717801:G:T p.(Gly302Val) NC_000003.12:43717801:G:T p.(Gly302Val) NC_000003.12:43717801:G:T Identity +NM_001195518.2:c.114C>G NP_001182447.1:p.Phe38Leu NC_000010.11:72566679:G:C p.(Phe38Leu) NC_000010.11:72566679:G:C p.(Phe38Leu) NC_000010.11:72566679:G:C Identity +NM_020949.3:c.2187C>G NP_066000.2:p.Phe729Leu NC_000003.12:170467183:G:C p.(Phe729Leu) NC_000003.12:170467183:G:C p.(Phe729Leu) NC_000003.12:170467183:G:C Identity +NM_020884.7:c.4957A>C NP_065935.4:p.Met1653Leu NC_000020.11:35000467:A:C p.(Met1653Leu) NC_000020.11:35000467:A:C p.(Met1653Leu) NC_000020.11:35000467:A:C Identity +NM_001368263.1:c.2251T>C NP_001355192.1:p.Ser751Pro NC_000003.12:45520254:T:C p.(Ser751Pro) NC_000003.12:45520254:T:C p.(Ser751Pro) NC_000003.12:45520254:T:C Identity +NM_000251.3:c.2487_2493del NP_000242.1:p.His829fs NC_000002.12:47480721:CATGTTGCA:CA p.(His829GlnfsTer10) NC_000002.12:47480721:CATGTTGCA:CA p.(His829GlnfsTer10) NC_000002.12:47480723:TGTTGCA: Analogous +NM_001165412.2:c.707C>G NP_001158884.1:p.Ser236Ter NC_000004.12:102579018:C:G p.(Ser236Ter) NC_000004.12:102579018:C:G p.(Ser236Ter) NC_000004.12:102579018:C:G Identity +NM_001164507.2:c.3165C>G NP_001157979.2:p.Asp1055Glu NC_000002.12:151679810:G:C p.(Asp1055Glu) NC_000002.12:151679810:G:C p.(Asp1055Glu) NC_000002.12:151679810:G:C Identity +NM_133497.4:c.1500C>G NP_598004.1:p.Tyr500Ter NC_000009.12:2729588:C:G p.(Tyr500Ter) NC_000009.12:2729588:C:G p.(Tyr500Ter) NC_000009.12:2729588:C:G Identity +NM_001165966.2:c.1636A>G NP_001159438.1:p.Thr546Ala NC_000017.11:6470288:T:C p.(Thr546Ala) NC_000017.11:6470288:T:C p.(Thr546Ala) NC_000017.11:6470288:T:C Identity +NM_015346.4:c.6894C>G NP_056161.2:p.His2298Gln NC_000014.9:67755142:G:C p.(His2298Gln) NC_000014.9:67755142:G:C p.(His2298Gln) NC_000014.9:67755142:G:C Identity +NM_001379500.1:c.838G>A NP_001366429.1:p.Val280Ile NC_000021.9:45476389:G:A p.(Val280Ile) NC_000021.9:45476389:G:A p.(Val280Ile) NC_000021.9:45476389:G:A Identity +NM_000138.5:c.407G>A NP_000129.3:p.Cys136Tyr NC_000015.10:48600173:C:T p.(Cys136Tyr) NC_000015.10:48600173:C:T p.(Cys136Tyr) NC_000015.10:48600173:C:T Identity +NM_001318245.2:c.6136G>C NP_001305174.1:p.Ala2046Pro NC_000022.11:25955340:G:C p.(Ala2046Pro) NC_000022.11:25955340:G:C p.(Ala2046Pro) NC_000022.11:25955340:G:C Identity +NM_000718.4:c.4279A>T NP_000709.1:p.Met1427Leu NC_000009.12:138058220:A:T p.(Met1427Leu) NC_000009.12:138058220:A:T p.(Met1427Leu) NC_000009.12:138058220:A:T Identity +NM_001382235.1:c.1611C>G NP_001369164.1:p.Phe537Leu NC_000020.11:63413547:G:C p.(Phe537Leu) NC_000020.11:63413547:G:C p.(Phe537Leu) NC_000020.11:63413547:G:C Identity +NM_001346897.2:c.1775C>T NP_001333826.1:p.Pro592Leu NC_000007.14:55171203:C:T p.(Pro592Leu) NC_000007.14:55171203:C:T p.(Pro592Leu) NC_000007.14:55171203:C:T Identity +NM_001407296.1:c.1466G>T NP_001394225.1:p.Gly489Val NC_000016.10:23635019:C:A p.(Gly489Val) NC_000016.10:23635019:C:A p.(Gly489Val) NC_000016.10:23635019:C:A Identity +NM_001197104.2:c.2968_2969insAGAG NP_001184033.1:p.Cys990Ter NC_000011.10:118474127::AGAG p.(Cys990Ter) NC_000011.10:118474126:T:AGAG p.(Cys990Ter) NC_000011.10:118474127:TG:AGAG Identity +NM_001256007.3:c.1628A>G NP_001242936.1:p.Asp543Gly NC_000007.14:108491464:T:C p.(Asp543Gly) NC_000007.14:108491464:T:C p.(Asp543Gly) NC_000007.14:108491464:T:C Identity +NM_000081.4:c.10994C>A NP_000072.2:p.Ser3665Tyr NC_000001.11:235677134:G:T p.(Ser3665Tyr) NC_000001.11:235677134:G:T p.(Ser3665Tyr) NC_000001.11:235677134:G:T Identity +NM_000103.4:c.712del NP_000094.2:p.Ser238fs NC_000015.10:51218571:AAA:AA p.(Ser238LeufsTer14) NC_000015.10:51218571:AAA:AA p.(Ser238LeufsTer14) NC_000015.10:51218571:A: Analogous +NM_014244.5:c.1712G>A NP_055059.2:p.Gly571Asp NC_000005.10:179139952:C:T p.(Gly571Asp) NC_000005.10:179139952:C:T p.(Gly571Asp) NC_000005.10:179139952:C:T Identity +NM_001136025.5:c.281G>A NP_001129497.1:p.Arg94His NC_000023.11:115629240:G:A p.(Arg94His) NC_000023.11:115629240:G:A p.(Arg94His) NC_000023.11:115629240:G:A Identity +NM_001005407.2:c.6844G>A NP_001005407.1:p.Val2282Met NC_000016.10:1220793:G:A p.(Val2282Met) NC_000016.10:1220793:G:A p.(Val2282Met) NC_000016.10:1220793:G:A Identity +NM_000204.5:c.1203C>A NP_000195.3:p.His401Gln NC_000004.12:109746447:G:T p.(His401Gln) NC_000004.12:109746447:G:T p.(His401Gln) NC_000004.12:109746447:G:T Identity +NM_001131005.2:c.505C>T NP_001124477.1:p.Pro169Ser NC_000005.10:88751934:G:A p.(Pro169Ser) NC_000005.10:88751934:G:A p.(Pro169Ser) NC_000005.10:88751934:G:A Identity +NM_004429.5:c.860G>A NP_004420.1:p.Ser287Asn NC_000023.11:68840472:G:A p.(Ser287Asn) NC_000023.11:68840472:G:A p.(Ser287Asn) NC_000023.11:68840472:G:A Identity +NM_001005505.3:c.1162_1165del NP_001005505.1:p.Thr388fs NC_000003.12:50379186:GAGTGA:GA p.(Thr388GlyfsTer7) NC_000003.12:50379186:GAGTGA:GA p.(Thr388GlyfsTer7) NC_000003.12:50379186:GAGT: Analogous +NM_002661.5:c.1528G>A NP_002652.2:p.Glu510Lys NC_000016.10:81907744:G:A p.(Glu510Lys) NC_000016.10:81907744:G:A p.(Glu510Lys) NC_000016.10:81907744:G:A Identity +NM_001252020.2:c.2749G>C NP_001238949.1:p.Glu917Gln NC_000015.10:31035547:C:G p.(Glu917Gln) NC_000015.10:31035547:C:G p.(Glu917Gln) NC_000015.10:31035547:C:G Identity +NM_001317034.1:c.737T>C NP_001303963.1:p.Met246Thr NC_000020.11:50936193:A:G p.(Met246Thr) NC_000020.11:50936193:A:G p.(Met246Thr) NC_000020.11:50936193:A:G Identity +NM_004370.6:c.3712A>T NP_004361.3:p.Ile1238Phe NC_000006.12:75152335:T:A p.(Ile1238Phe) NC_000006.12:75152335:T:A p.(Ile1238Phe) NC_000006.12:75152335:T:A Identity +NM_001282660.2:c.1859C>T NP_001269589.1:p.Ser620Phe NC_000022.11:40418578:G:A p.(Ser620Phe) NC_000022.11:40418578:G:A p.(Ser620Phe) NC_000022.11:40418578:G:A Identity +NM_001024666.3:c.1460A>G NP_001019837.1:p.His487Arg NC_000023.11:19545973:T:C p.(His487Arg) NC_000023.11:19545973:T:C p.(His487Arg) NC_000023.11:19545973:T:C Identity +NM_001134665.3:c.290T>C NP_001128137.1:p.Val97Ala NC_000004.12:99558106:A:G p.(Val97Ala) NC_000004.12:99558106:A:G p.(Val97Ala) NC_000004.12:99558106:A:G Identity +NM_001300895.3:c.79G>T NP_001287824.1:p.Asp27Tyr NC_000011.10:67456214:G:T p.(Asp27Tyr) NC_000011.10:67456214:G:T p.(Asp27Tyr) NC_000011.10:67456214:G:T Identity +NM_015909.4:c.527T>C NP_056993.2:p.Ile176Thr NC_000002.12:15536537:A:G p.(Ile176Thr) NC_000002.12:15536537:A:G p.(Ile176Thr) NC_000002.12:15536537:A:G Identity +NM_001265612.2:c.1555A>G NP_001252541.1:p.Ile519Val NC_000016.10:58578727:T:C p.(Ile519Val) NC_000016.10:58578727:T:C p.(Ile519Val) NC_000016.10:58578727:T:C Identity +NM_006493.4:c.959A>G NP_006484.2:p.Gln320Arg NC_000013.11:77000850:A:G p.(Gln320Arg) NC_000013.11:77000850:A:G p.(Gln320Arg) NC_000013.11:77000850:A:G Identity +NM_001407296.1:c.1906C>G NP_001394225.1:p.Pro636Ala NC_000016.10:23630187:G:C p.(Pro636Ala) NC_000016.10:23630187:G:C p.(Pro636Ala) NC_000016.10:23630187:G:C Identity +NM_001256789.3:c.2366G>A NP_001243718.1:p.Gly789Asp NC_000023.11:49220492:C:T p.(Gly789Asp) NC_000023.11:49220492:C:T p.(Gly789Asp) NC_000023.11:49220492:C:T Identity +NM_001174116.3:c.7870G>T NP_001167587.1:p.Val2624Phe NC_000015.10:51463434:C:A p.(Val2624Phe) NC_000015.10:51463434:C:A p.(Val2624Phe) NC_000015.10:51463434:C:A Identity +NM_000391.4:c.1490del NP_000382.3:p.Arg497fs NC_000011.10:6614926:C: p.(Arg497ProfsTer22) NC_000011.10:6614926:C: p.(Arg497ProfsTer22) NC_000011.10:6614926:C: Analogous +NM_016941.4:c.882del NP_058637.1:p.Arg294fs NC_000019.10:39505238:GG:G p.(Arg294SerfsTer18) NC_000019.10:39505238:GG:G p.(Arg294SerfsTer18) NC_000019.10:39505239:G: Analogous +NM_000283.4:c.1387A>C NP_000274.3:p.Ile463Leu NC_000004.12:657479:A:C p.(Ile463Leu) NC_000004.12:657479:A:C p.(Ile463Leu) NC_000004.12:657479:A:C Identity +NM_001207047.3:c.2646G>C NP_001193976.1:p.Glu882Asp NC_000020.11:3584689:G:C p.(Glu882Asp) NC_000020.11:3584689:G:C p.(Glu882Asp) NC_000020.11:3584689:G:C Identity +NM_000038.6:c.6926C>A NP_000029.2:p.Pro2309His NC_000005.10:112842519:C:A p.(Pro2309His) NC_000005.10:112842519:C:A p.(Pro2309His) NC_000005.10:112842519:C:A Identity +NM_001379500.1:c.1892C>T NP_001366429.1:p.Pro631Leu NC_000021.9:45487504:C:T p.(Pro631Leu) NC_000021.9:45487504:C:T p.(Pro631Leu) NC_000021.9:45487504:C:T Identity +NM_001163022.3:c.205G>C NP_001156494.1:p.Asp69His NC_000020.11:21161978:G:C p.(Asp69His) NC_000020.11:21161978:G:C p.(Asp69His) NC_000020.11:21161978:G:C Identity +NM_001146158.2:c.1202C>T NP_001139630.1:p.Ala401Val NC_000002.12:74462268:G:A p.(Ala401Val) NC_000002.12:74462268:G:A p.(Ala401Val) NC_000002.12:74462268:G:A Identity +NM_002471.4:c.2959C>G NP_002462.2:p.Leu987Val NC_000014.9:23393487:G:C p.(Leu987Val) NC_000014.9:23393487:G:C p.(Leu987Val) NC_000014.9:23393487:G:C Identity +NM_001282531.3:c.674G>A NP_001269460.1:p.Arg225Gln NC_000020.11:50894039:C:T p.(Arg225Gln) NC_000020.11:50894039:C:T p.(Arg225Gln) NC_000020.11:50894039:C:T Identity +NM_005112.5:c.940C>T NP_005103.2:p.His314Tyr NC_000004.12:10078925:G:A p.(His314Tyr) NC_000004.12:10078925:G:A p.(His314Tyr) NC_000004.12:10078925:G:A Identity +NM_001080517.3:c.1811A>C NP_001073986.1:p.Lys604Thr NC_000003.12:9447713:A:C p.(Lys604Thr) NC_000003.12:9447713:A:C p.(Lys604Thr) NC_000003.12:9447713:A:C Identity +NM_000356.4:c.293C>T NP_000347.2:p.Thr98Ile NC_000005.10:150364240:C:T p.(Thr98Ile) NC_000005.10:150364240:C:T p.(Thr98Ile) NC_000005.10:150364240:C:T Identity +NM_001100913.3:c.1886G>T NP_001094383.2:p.Ser629Ile NC_000014.9:105384457:G:T p.(Ser629Ile) NC_000014.9:105384457:G:T p.(Ser629Ile) NC_000014.9:105384457:G:T Identity +NM_017890.5:c.11402G>A NP_060360.3:p.Gly3801Glu NC_000008.11:99868399:G:A p.(Gly3801Glu) NC_000008.11:99868399:G:A p.(Gly3801Glu) NC_000008.11:99868399:G:A Identity +NM_003906.5:c.540C>G NP_003897.2:p.His180Gln NC_000021.9:46284746:G:C p.(His180Gln) NC_000021.9:46284746:G:C p.(His180Gln) NC_000021.9:46284746:G:C Identity +NM_005876.5:c.9797G>A NP_005867.3:p.Gly3266Asp NC_000002.12:219492778:G:A p.(Gly3266Asp) NC_000002.12:219492778:G:A p.(Gly3266Asp) NC_000002.12:219492778:G:A Identity +NM_001563.4:c.68A>T NP_001554.2:p.Asp23Val NC_000006.12:76042125:T:A p.(Asp23Val) NC_000006.12:76042125:T:A p.(Asp23Val) NC_000006.12:76042125:T:A Identity +NM_020778.5:c.1921G>A NP_065829.4:p.Val641Met NC_000015.10:84856658:G:A p.(Val641Met) NC_000015.10:84856658:G:A p.(Val641Met) NC_000015.10:84856658:G:A Identity +NM_033071.5:c.13262A>T NP_149062.2:p.Gln4421Leu NC_000006.12:152331209:T:A p.(Gln4421Leu) NC_000006.12:152331209:T:A p.(Gln4421Leu) NC_000006.12:152331209:T:A Identity +NM_000249.4:c.866del NP_000240.1:p.His289fs NC_000003.12:37017580:A: p.(His289ProfsTer8) NC_000003.12:37017580:A: p.(His289ProfsTer8) NC_000003.12:37017580:A: Analogous +NM_001354689.3:c.751C>G NP_001341618.1:p.Leu251Val NC_000003.12:12604218:G:C p.(Leu251Val) NC_000003.12:12604218:G:C p.(Leu251Val) NC_000003.12:12604218:G:C Identity +NM_021961.6:c.365T>C NP_068780.2:p.Met122Thr NC_000011.10:12879741:T:C p.(Met122Thr) NC_000011.10:12879741:T:C p.(Met122Thr) NC_000011.10:12879741:T:C Identity +NM_001099222.3:c.1159G>A NP_001092692.1:p.Ala387Thr NC_000009.12:27047323:G:A p.(Ala387Thr) NC_000009.12:27047323:G:A p.(Ala387Thr) NC_000009.12:27047323:G:A Identity +NM_001122633.3:c.2192G>A NP_001116105.2:p.Gly731Asp NC_000002.12:210606940:G:A p.(Gly731Asp) NC_000002.12:210606940:G:A p.(Gly731Asp) NC_000002.12:210606940:G:A Identity +NM_000082.4:c.867dup NP_000073.1:p.Asn290Ter NC_000005.10:60891062:A:AA p.(Asn290Ter) NC_000005.10:60891062:A:AA p.(Asn290Ter) ERR:SPDI Identity +NM_000452.3:c.145dup NP_000443.2:p.Met49fs NC_000013.11:103066104:T:TT p.(Met49AsnfsTer43) NC_000013.11:103066104:T:TT p.(Met49AsnfsTer43) ERR:SPDI Analogous +NM_001384732.1:c.8267C>T NP_001371661.1:p.Ala2756Val NC_000005.10:37153845:G:A p.(Ala2756Val) NC_000005.10:37153845:G:A p.(Ala2756Val) NC_000005.10:37153845:G:A Identity +NM_001037343.2:c.206A>C NP_001032420.1:p.Gln69Pro NC_000023.11:18575413:A:C p.(Gln69Pro) NC_000023.11:18575413:A:C p.(Gln69Pro) NC_000023.11:18575413:A:C Identity +NM_001394062.1:c.11065C>G NP_001380991.1:p.Arg3689Gly NC_000001.11:39350883:C:G p.(Arg3689Gly) NC_000001.11:39350883:C:G p.(Arg3689Gly) NC_000001.11:39350883:C:G Identity +NM_017780.4:c.3031T>C NP_060250.2:p.Tyr1011His NC_000008.11:60822575:T:C p.(Tyr1011His) NC_000008.11:60822575:T:C p.(Tyr1011His) NC_000008.11:60822575:T:C Identity +NM_000109.4:c.2171del NP_000100.3:p.His724fs NC_000023.11:32518104:T: p.(His724ProfsTer28) NC_000023.11:32518104:T: p.(His724ProfsTer28) NC_000023.11:32518104:T: Analogous +NM_001144769.5:c.9697G>A NP_001138241.1:p.Val3233Ile NC_000006.12:56552737:C:T p.(Val3233Ile) NC_000006.12:56552737:C:T p.(Val3233Ile) NC_000006.12:56552737:C:T Identity +NM_001286457.2:c.1541C>T NP_001273386.2:p.Ala514Val NC_000016.10:8904549:G:A p.(Ala514Val) NC_000016.10:8904549:G:A p.(Ala514Val) NC_000016.10:8904549:G:A Identity +NM_001039675.2:c.463A>C NP_001034764.1:p.Lys155Gln NC_000015.10:90939811:A:C p.(Lys155Gln) NC_000015.10:90939811:A:C p.(Lys155Gln) NC_000015.10:90939811:A:C Identity +NM_004855.5:c.304G>A NP_004846.4:p.Gly102Ser NC_000015.10:55321276:G:A p.(Gly102Ser) NC_000015.10:55321276:G:A p.(Gly102Ser) NC_000015.10:55321276:G:A Identity +NM_000065.5:c.1004C>A NP_000056.2:p.Ser335Tyr NC_000005.10:41176638:G:T p.(Ser335Tyr) NC_000005.10:41176638:G:T p.(Ser335Tyr) NC_000005.10:41176638:G:T Identity +NM_006158.5:c.867G>C NP_006149.2:p.Glu289Asp NC_000008.11:24955648:C:G p.(Glu289Asp) NC_000008.11:24955648:C:G p.(Glu289Asp) NC_000008.11:24955648:C:G Identity +NM_001168370.2:c.2977A>T NP_001161842.2:p.Ile993Phe NC_000006.12:43045383:T:A p.(Ile993Phe) NC_000006.12:43045383:T:A p.(Ile993Phe) NC_000006.12:43045383:T:A Identity +NM_173551.5:c.2157C>A NP_775822.3:p.Ser719Arg NC_000009.12:98756588:G:T p.(Ser719Arg) NC_000009.12:98756588:G:T p.(Ser719Arg) NC_000009.12:98756588:G:T Identity +NM_014391.3:c.724G>A NP_055206.2:p.Glu242Lys NC_000010.11:90915807:C:T p.(Glu242Lys) NC_000010.11:90915807:C:T p.(Glu242Lys) NC_000010.11:90915807:C:T Identity +NM_000482.4:c.1079A>C NP_000473.2:p.Glu360Ala NC_000011.10:116820978:T:G p.(Glu360Ala) NC_000011.10:116820978:T:G p.(Glu360Ala) NC_000011.10:116820978:T:G Identity +NM_001174098.2:c.728T>C NP_001167569.1:p.Leu243Pro NC_000010.11:71356197:T:C p.(Leu243Pro) NC_000010.11:71356197:T:C p.(Leu243Pro) NC_000010.11:71356197:T:C Identity +NM_004370.6:c.5574C>A NP_004361.3:p.Ser1858Arg NC_000006.12:75133947:G:T p.(Ser1858Arg) NC_000006.12:75133947:G:T p.(Ser1858Arg) NC_000006.12:75133947:G:T Identity +NM_001166226.2:c.2380A>G NP_001159698.1:p.Ile794Val NC_000005.10:123372672:T:C p.(Ile794Val) NC_000005.10:123372672:T:C p.(Ile794Val) NC_000005.10:123372672:T:C Identity +NM_000070.3:c.735_741del NP_000061.1:p.Ser246fs NC_000015.10:42389028:CTAGTGAC:C p.(Ser246CysfsTer5) NC_000015.10:42389028:CTAGTGAC:C p.(Ser246CysfsTer5) NC_000015.10:42389029:TAGTGAC: Analogous +NM_001366574.1:c.142C>T NP_001353503.1:p.Leu48Phe NC_000012.12:88153422:C:T p.(Leu48Phe) NC_000012.12:88153422:C:T p.(Leu48Phe) NC_000012.12:88153422:C:T Identity +NM_001042663.3:c.2575C>A NP_001036128.2:p.Leu859Ile NC_000001.11:6468371:G:T p.(Leu859Ile) NC_000001.11:6468371:G:T p.(Leu859Ile) NC_000001.11:6468371:G:T Identity +NM_001385.3:c.487G>T NP_001376.1:p.Ala163Ser NC_000008.11:104447439:C:A p.(Ala163Ser) NC_000008.11:104447439:C:A p.(Ala163Ser) NC_000008.11:104447439:C:A Identity +NM_002335.4:c.571G>A NP_002326.2:p.Asp191Asn NC_000011.10:68357731:G:A p.(Asp191Asn) NC_000011.10:68357731:G:A p.(Asp191Asn) NC_000011.10:68357731:G:A Identity +NM_000445.5:c.11843T>A NP_000436.2:p.Val3948Asp NC_000008.11:143918058:A:T p.(Val3948Asp) NC_000008.11:143918058:A:T p.(Val3948Asp) NC_000008.11:143918058:A:T Identity +NM_014714.4:c.974A>G NP_055529.2:p.Glu325Gly NC_000016.10:1587232:T:C p.(Glu325Gly) NC_000016.10:1587232:T:C p.(Glu325Gly) NC_000016.10:1587232:T:C Identity +NM_000721.4:c.2791A>G NP_000712.2:p.Lys931Glu NC_000001.11:181732876:A:G p.(Lys931Glu) NC_000001.11:181732876:A:G p.(Lys931Glu) NC_000001.11:181732876:A:G Identity +NM_000277.3:c.1049C>G NP_000268.1:p.Ser350Cys NC_000012.12:102844351:G:C p.(Ser350Cys) NC_000012.12:102844351:G:C p.(Ser350Cys) NC_000012.12:102844351:G:C Identity +NM_000098.3:c.1666T>G NP_000089.1:p.Leu556Val NC_000001.11:53213283:T:G p.(Leu556Val) NC_000001.11:53213283:T:G p.(Leu556Val) NC_000001.11:53213283:T:G Identity +NM_001363656.2:c.179A>T NP_001350585.1:p.Asp60Val NC_000019.10:52213018:A:T p.(Asp60Val) NC_000019.10:52213018:A:T p.(Asp60Val) NC_000019.10:52213018:A:T Identity +NM_000368.5:c.608del NP_000359.1:p.Leu203fs NC_000009.12:132921873:AAAAA:AAAA p.(Leu203CysfsTer7) NC_000009.12:132921873:AAAAA:AAAA p.(Leu203CysfsTer7) NC_000009.12:132921873:A: Analogous +NM_001323956.2:c.395T>A NP_001310885.1:p.Val132Asp NC_000020.11:419718:T:A p.(Val132Asp) NC_000020.11:419718:T:A p.(Val132Asp) NC_000020.11:419718:T:A Identity +NM_001365684.2:c.5190T>A NP_001352613.2:p.His1730Gln NC_000005.10:177283839:T:A p.(His1730Gln) NC_000005.10:177283839:T:A p.(His1730Gln) NC_000005.10:177283839:T:A Identity +NM_004995.4:c.1579_1581del NP_004986.1:p.Ile527del NC_000014.9:22845868:ATT: p.(Ile527del) NC_000014.9:22845868:ATT: p.(Ile527del) NC_000014.9:22845868:ATT: Identity +NM_024529.5:c.1238A>C NP_078805.3:p.Gln413Pro NC_000001.11:193233075:A:C p.(Gln413Pro) NC_000001.11:193233075:A:C p.(Gln413Pro) NC_000001.11:193233075:A:C Identity +NM_001347827.2:c.1289G>A NP_001334756.1:p.Gly430Glu NC_000004.12:54272444:G:A p.(Gly430Glu) NC_000004.12:54272444:G:A p.(Gly430Glu) NC_000004.12:54272444:G:A Identity +NM_001159291.2:c.1950_1951delinsTA NP_001152763.1:p.Glu651Lys NC_000006.12:109447090:CG:TA p.(Glu651Lys) NC_000006.12:109447090:CG:TA p.(Glu651Lys) NC_000006.12:109447090:CG:TA Identity +NM_015557.3:c.5830C>T NP_056372.1:p.Gln1944Ter NC_000001.11:6106421:G:A p.(Gln1944Ter) NC_000001.11:6106421:G:A p.(Gln1944Ter) NC_000001.11:6106421:G:A Identity +NM_001164665.2:c.3848C>T NP_001158137.1:p.Pro1283Leu NC_000007.14:138894525:G:A p.(Pro1283Leu) NC_000007.14:138894525:G:A p.(Pro1283Leu) NC_000007.14:138894525:G:A Identity +NM_001083885.3:c.1165G>A NP_001077354.2:p.Glu389Lys NC_000009.12:114403999:C:T p.(Glu389Lys) NC_000009.12:114403999:C:T p.(Glu389Lys) NC_000009.12:114403999:C:T Identity +NM_005373.3:c.956G>A NP_005364.1:p.Arg319Lys NC_000001.11:43340488:G:A p.(Arg319Lys) NC_000001.11:43340488:G:A p.(Arg319Lys) NC_000001.11:43340488:G:A Identity +NM_001413013.1:c.1958A>G NP_001399942.1:p.Glu653Gly NC_000012.12:110340959:A:G p.(Glu653Gly) NC_000012.12:110340959:A:G p.(Glu653Gly) NC_000012.12:110340959:A:G Identity +NM_001365999.1:c.4603G>C NP_001352928.1:p.Asp1535His NC_000001.11:43430617:G:C p.(Asp1535His) NC_000001.11:43430617:G:C p.(Asp1535His) NC_000001.11:43430617:G:C Identity +NM_001135.4:c.1529C>T NP_001126.3:p.Pro510Leu NC_000015.10:88847341:C:T p.(Pro510Leu) NC_000015.10:88847341:C:T p.(Pro510Leu) NC_000015.10:88847341:C:T Identity +NM_001166102.2:c.740G>A NP_001159574.1:p.Arg247His NC_000011.10:67611060:G:A p.(Arg247His) NC_000011.10:67611060:G:A p.(Arg247His) NC_000011.10:67611060:G:A Identity +NM_006445.4:c.3238G>A NP_006436.3:p.Glu1080Lys NC_000017.11:1674502:C:T p.(Glu1080Lys) NC_000017.11:1674502:C:T p.(Glu1080Lys) NC_000017.11:1674502:C:T Identity +NM_001271282.3:c.5703del NP_001258211.1:p.Lys1901fs NC_000014.9:95090563:TTT:TT p.(Lys1901AsnfsTer27) NC_000014.9:95090563:TTT:TT p.(Lys1901AsnfsTer27) NC_000014.9:95090563:T: Analogous +NM_020949.3:c.568C>T NP_066000.2:p.Leu190Phe NC_000003.12:170498857:G:A p.(Leu190Phe) NC_000003.12:170498857:G:A p.(Leu190Phe) NC_000003.12:170498857:G:A Identity +NM_001250.6:c.743C>T NP_001241.1:p.Ala248Val NC_000020.11:46128948:C:T p.(Ala248Val) NC_000020.11:46128948:C:T p.(Ala248Val) NC_000020.11:46128948:C:T Identity +NM_000287.4:c.2906G>T NP_000278.3:p.Arg969Leu NC_000006.12:42964371:C:A p.(Arg969Leu) NC_000006.12:42964371:C:A p.(Arg969Leu) NC_000006.12:42964371:C:A Identity +NM_001163022.3:c.437C>A NP_001156494.1:p.Thr146Asn NC_000020.11:21162210:C:A p.(Thr146Asn) NC_000020.11:21162210:C:A p.(Thr146Asn) NC_000020.11:21162210:C:A Identity +NM_000126.4:c.170G>T NP_000117.1:p.Gly57Val NC_000015.10:76295606:C:A p.(Gly57Val) NC_000015.10:76295606:C:A p.(Gly57Val) NC_000015.10:76295606:C:A Identity +NM_206933.4:c.5519G>A NP_996816.3:p.Gly1840Glu NC_000001.11:216078141:C:T p.(Gly1840Glu) NC_000001.11:216078141:C:T p.(Gly1840Glu) NC_000001.11:216078141:C:T Identity +NM_020693.4:c.4120A>G NP_065744.3:p.Ile1374Val NC_000011.10:117439289:T:C p.(Ile1374Val) NC_000011.10:117439289:T:C p.(Ile1374Val) NC_000011.10:117439289:T:C Identity +NM_000335.5:c.5653A>G NP_000326.2:p.Lys1885Glu NC_000003.12:38550715:T:C p.(Lys1885Glu) NC_000003.12:38550715:T:C p.(Lys1885Glu) NC_000003.12:38550715:T:C Identity +NM_001386500.1:c.6607G>A NP_001373429.1:p.Gly2203Ser NC_000001.11:11124552:C:T p.(Gly2203Ser) NC_000001.11:11124552:C:T p.(Gly2203Ser) NC_000001.11:11124552:C:T Identity +NM_001163812.2:c.20G>T NP_001157284.1:p.Ser7Ile NC_000010.11:100988229:G:T p.(Ser7Ile) NC_000010.11:100988229:G:T p.(Ser7Ile) NC_000010.11:100988229:G:T Identity +NM_015192.4:c.654C>A NP_056007.1:p.Asn218Lys NC_000020.11:8657242:C:A p.(Asn218Lys) NC_000020.11:8657242:C:A p.(Asn218Lys) NC_000020.11:8657242:C:A Identity +NM_207361.6:c.1622G>T NP_997244.4:p.Gly541Val NC_000013.11:38688965:G:T p.(Gly541Val) NC_000013.11:38688965:G:T p.(Gly541Val) NC_000013.11:38688965:G:T Identity +NM_000388.4:c.1643C>A NP_000379.3:p.Ala548Glu NC_000003.12:122282146:C:A p.(Ala548Glu) NC_000003.12:122282146:C:A p.(Ala548Glu) NC_000003.12:122282146:C:A Identity +NM_001008738.3:c.967T>C NP_001008738.3:p.Phe323Leu NC_000005.10:131704129:A:G p.(Phe323Leu) NC_000005.10:131704129:A:G p.(Phe323Leu) NC_000005.10:131704129:A:G Identity +NM_001282750.2:c.161T>G NP_001269679.1:p.Val54Gly NC_000001.11:172551609:T:G p.(Val54Gly) NC_000001.11:172551609:T:G p.(Val54Gly) NC_000001.11:172551609:T:G Identity +NM_001184967.2:c.319C>T NP_001171896.1:p.Pro107Ser NC_000003.12:69937941:C:T p.(Pro107Ser) NC_000003.12:69937941:C:T p.(Pro107Ser) NC_000003.12:69937941:C:T Identity +NM_022042.4:c.1417G>A NP_071325.2:p.Val473Ile NC_000004.12:989521:C:T p.(Val473Ile) NC_000004.12:989521:C:T p.(Val473Ile) NC_000004.12:989521:C:T Identity +NM_001084.5:c.268G>T NP_001075.1:p.Val90Phe NC_000007.14:101216479:C:A p.(Val90Phe) NC_000007.14:101216479:C:A p.(Val90Phe) NC_000007.14:101216479:C:A Identity +NM_012473.4:c.119G>C NP_036605.2:p.Gly40Ala NC_000022.11:36480718:C:G p.(Gly40Ala) NC_000022.11:36480718:C:G p.(Gly40Ala) NC_000022.11:36480718:C:G Identity +NM_001410997.1:c.80T>C NP_001397926.1:p.Phe27Ser NC_000011.10:61364469:T:C p.(Phe27Ser) NC_000011.10:61364469:T:C p.(Phe27Ser) NC_000011.10:61364469:T:C Identity +NM_001282489.3:c.568G>A NP_001269418.1:p.Ala190Thr NC_000017.11:74919958:C:T p.(Ala190Thr) NC_000017.11:74919958:C:T p.(Ala190Thr) NC_000017.11:74919958:C:T Identity +NM_001365999.1:c.5999T>C NP_001352928.1:p.Phe2000Ser NC_000001.11:43435293:T:C p.(Phe2000Ser) NC_000001.11:43435293:T:C p.(Phe2000Ser) NC_000001.11:43435293:T:C Identity +NM_002292.4:c.1262G>A NP_002283.3:p.Gly421Asp NC_000003.12:49129981:C:T p.(Gly421Asp) NC_000003.12:49129981:C:T p.(Gly421Asp) NC_000003.12:49129981:C:T Identity +NM_001033604.2:c.160C>A NP_001028776.1:p.Pro54Thr NC_000007.14:33152747:C:A p.(Pro54Thr) NC_000007.14:33152747:C:A p.(Pro54Thr) NC_000007.14:33152747:C:A Identity +NM_001193307.2:c.158A>T NP_001180236.1:p.His53Leu NC_000007.14:93105939:T:A p.(His53Leu) NC_000007.14:93105939:T:A p.(His53Leu) NC_000007.14:93105939:T:A Identity +NM_001145853.1:c.1198A>G NP_001139325.1:p.Asn400Asp NC_000004.12:6300992:A:G p.(Asn400Asp) NC_000004.12:6300992:A:G p.(Asn400Asp) NC_000004.12:6300992:A:G Identity +NM_001370534.1:c.1924C>G NP_001357463.1:p.Gln642Glu NC_000016.10:74628496:G:C p.(Gln642Glu) NC_000016.10:74628496:G:C p.(Gln642Glu) NC_000016.10:74628496:G:C Identity +NM_003334.4:c.667A>G NP_003325.2:p.Met223Val NC_000023.11:47201354:A:G p.(Met223Val) NC_000023.11:47201354:A:G p.(Met223Val) NC_000023.11:47201354:A:G Identity +NM_001008844.3:c.2227C>T NP_001008844.1:p.Gln743Ter NC_000006.12:7574181:C:T p.(Gln743Ter) NC_000006.12:7574181:C:T p.(Gln743Ter) NC_000006.12:7574181:C:T Identity +NM_000550.3:c.1282G>A NP_000541.1:p.Glu428Lys NC_000009.12:12708016:G:A p.(Glu428Lys) NC_000009.12:12708016:G:A p.(Glu428Lys) NC_000009.12:12708016:G:A Identity +NM_001271620.2:c.3169T>C NP_001258549.1:p.Cys1057Arg NC_000016.10:49635802:A:G p.(Cys1057Arg) NC_000016.10:49635802:A:G p.(Cys1057Arg) NC_000016.10:49635802:A:G Identity +NM_000368.5:c.625A>C NP_000359.1:p.Met209Leu NC_000009.12:132921856:T:G p.(Met209Leu) NC_000009.12:132921856:T:G p.(Met209Leu) NC_000009.12:132921856:T:G Identity +NM_001035511.3:c.110A>G NP_001030588.1:p.Glu37Gly NC_000001.11:161328427:A:G p.(Glu37Gly) NC_000001.11:161328427:A:G p.(Glu37Gly) NC_000001.11:161328427:A:G Identity +NM_001145527.2:c.530C>T NP_001138999.1:p.Ala177Val NC_000009.12:137717069:C:T p.(Ala177Val) NC_000009.12:137717069:C:T p.(Ala177Val) NC_000009.12:137717069:C:T Identity +NM_000253.4:c.415C>T NP_000244.2:p.Gln139Ter NC_000004.12:99589663:C:T p.(Gln139Ter) NC_000004.12:99589663:C:T p.(Gln139Ter) NC_000004.12:99589663:C:T Identity +NM_001378418.1:c.2965C>T NP_001365347.1:p.Arg989Trp NC_000022.11:42212340:G:A p.(Arg989Trp) NC_000022.11:42212340:G:A p.(Arg989Trp) NC_000022.11:42212340:G:A Identity +NM_004304.5:c.2178G>A NP_004295.2:p.Trp726Ter NC_000002.12:29251130:C:T p.(Trp726Ter) NC_000002.12:29251130:C:T p.(Trp726Ter) NC_000002.12:29251130:C:T Identity +NM_025132.4:c.437G>A NP_079408.3:p.Cys146Tyr NC_000004.12:39199507:G:A p.(Cys146Tyr) NC_000004.12:39199507:G:A p.(Cys146Tyr) NC_000004.12:39199507:G:A Identity +NM_001099952.4:c.7321C>T NP_001093422.2:p.Pro2441Ser NC_000003.12:4811456:C:T p.(Pro2441Ser) NC_000003.12:4811456:C:T p.(Pro2441Ser) NC_000003.12:4811456:C:T Identity +NM_003850.3:c.1099G>T NP_003841.1:p.Asp367Tyr NC_000013.11:47954147:C:A p.(Asp367Tyr) NC_000013.11:47954147:C:A p.(Asp367Tyr) NC_000013.11:47954147:C:A Identity +NM_000404.4:c.268G>C NP_000395.3:p.Glu90Gln NC_000003.12:33068947:C:G p.(Glu90Gln) NC_000003.12:33068947:C:G p.(Glu90Gln) NC_000003.12:33068947:C:G Identity +NM_003184.4:c.1934C>G NP_003175.2:p.Ala645Gly NC_000008.11:119783558:G:C p.(Ala645Gly) NC_000008.11:119783558:G:C p.(Ala645Gly) NC_000008.11:119783558:G:C Identity +NM_000051.4:c.1988dup NP_000042.3:p.Leu663fs NC_000011.10:108253898:TTTTT:TTTTTT p.(Leu663PhefsTer42) NC_000011.10:108253898:TTTTT:TTTTTT p.(Leu663PhefsTer42) ERR:SPDI Analogous +NM_001999.4:c.5401A>G NP_001990.2:p.Ile1801Val NC_000005.10:128307155:T:C p.(Ile1801Val) NC_000005.10:128307155:T:C p.(Ile1801Val) NC_000005.10:128307155:T:C Identity +NM_001406482.1:c.52C>A NP_001393411.1:p.Leu18Met NC_000015.10:34794756:G:T p.(Leu18Met) NC_000015.10:34794756:G:T p.(Leu18Met) NC_000015.10:34794756:G:T Identity +NM_001256850.1:c.12446del NP_001243779.1:p.Met4149fs NC_000002.12:178739835:A: p.(Met4149ArgfsTer4) NC_000002.12:178739835:A: p.(Met4149ArgfsTer4) NC_000002.12:178739835:A: Analogous +NM_000038.6:c.266C>T NP_000029.2:p.Ser89Leu NC_000005.10:112767233:C:T p.(Ser89Leu) NC_000005.10:112767233:C:T p.(Ser89Leu) NC_000005.10:112767233:C:T Identity +NM_000287.4:c.703T>C NP_000278.3:p.Ser235Pro NC_000006.12:42978447:A:G p.(Ser235Pro) NC_000006.12:42978447:A:G p.(Ser235Pro) NC_000006.12:42978447:A:G Identity +NM_005876.5:c.6731C>T NP_005867.3:p.Pro2244Leu NC_000002.12:219484193:C:T p.(Pro2244Leu) NC_000002.12:219484193:C:T p.(Pro2244Leu) NC_000002.12:219484193:C:T Identity +NM_000076.2:c.270C>G NP_000067.1:p.Phe90Leu NC_000011.10:2885219:G:C p.(Phe90Leu) NC_000011.10:2885219:G:C p.(Phe90Leu) NC_000011.10:2885219:G:C Identity +NM_206933.4:c.13102A>C NP_996816.3:p.Ser4368Arg NC_000001.11:215674808:T:G p.(Ser4368Arg) NC_000001.11:215674808:T:G p.(Ser4368Arg) NC_000001.11:215674808:T:G Identity +NM_000883.4:c.1711G>A NP_000874.2:p.Gly571Arg NC_000007.14:128394344:C:T p.(Gly571Arg) NC_000007.14:128394344:C:T p.(Gly571Arg) NC_000007.14:128394344:C:T Identity +NM_001198868.2:c.1675A>G NP_001185797.1:p.Met559Val NC_000011.10:65208207:A:G p.(Met559Val) NC_000011.10:65208207:A:G p.(Met559Val) NC_000011.10:65208207:A:G Identity +NM_000372.5:c.359G>A NP_000363.1:p.Arg120Lys NC_000011.10:89178311:G:A p.(Arg120Lys) NC_000011.10:89178311:G:A p.(Arg120Lys) NC_000011.10:89178311:G:A Identity +NM_001160708.2:c.3122G>A NP_001154180.1:p.Cys1041Tyr NC_000012.12:106509442:G:A p.(Cys1041Tyr) NC_000012.12:106509442:G:A p.(Cys1041Tyr) NC_000012.12:106509442:G:A Identity +NM_001289905.2:c.2171A>G NP_001276834.1:p.Gln724Arg NC_000022.11:17109491:A:G p.(Gln724Arg) NC_000022.11:17109491:A:G p.(Gln724Arg) NC_000022.11:17109491:A:G Identity +NM_001291594.2:c.284C>T NP_001278523.1:p.Pro95Leu NC_000001.11:5905426:G:A p.(Pro95Leu) NC_000001.11:5905426:G:A p.(Pro95Leu) NC_000001.11:5905426:G:A Identity +NM_001123226.2:c.1960C>G NP_001116698.1:p.Leu654Val NC_000006.12:73497818:C:G p.(Leu654Val) NC_000006.12:73497818:C:G p.(Leu654Val) NC_000006.12:73497818:C:G Identity +NM_000137.4:c.52C>G NP_000128.1:p.Pro18Ala NC_000015.10:80153105:C:G p.(Pro18Ala) NC_000015.10:80153105:C:G p.(Pro18Ala) NC_000015.10:80153105:C:G Identity +NM_001034853.2:c.2910_2914del NP_001030025.1:p.Glu971fs NC_000023.11:38286084:CTTCTC:C p.(Glu971GlyfsTer106) NC_000023.11:38286084:CTTCTC:C p.(Glu971GlyfsTer106) NC_000023.11:38286084:CTTCT: Analogous +NM_000323.2:c.2989G>T NP_000314.1:p.Val997Leu NC_000010.11:43124931:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001142800.2:c.5414A>G NP_001136272.1:p.Gln1805Arg NC_000006.12:64590452:T:C p.(Gln1805Arg) NC_000006.12:64590452:T:C p.(Gln1805Arg) NC_000006.12:64590452:T:C Identity +NM_001257158.2:c.104G>A NP_001244087.1:p.Ser35Asn NC_000007.14:130416959:C:T p.(Ser35Asn) NC_000007.14:130416959:C:T p.(Ser35Asn) NC_000007.14:130416959:C:T Identity +NM_001386339.1:c.5495C>A NP_001373268.1:p.Ala1832Asp NC_000011.10:9781558:G:T p.(Ala1832Asp) NC_000011.10:9781558:G:T p.(Ala1832Asp) NC_000011.10:9781558:G:T Identity +NM_004501.3:c.677_681dup NP_004492.2:p.Lys228fs NC_000001.11:244862683:AACAC:AACACAACAC p.(Lys228ValfsTer94) NC_000001.11:244862683:AACAC:AACACAACAC p.(Lys228ValfsTer94) ERR:SPDI Analogous +NM_003906.5:c.819dup NP_003897.2:p.Cys274fs NC_000021.9:46284467:CCCC:CCCCC p.(Cys274ValfsTer2) NC_000021.9:46284467:CCCC:CCCCC p.(Cys274ValfsTer2) ERR:SPDI Analogous +NM_001077653.2:c.154G>C NP_001071121.1:p.Ala52Pro NC_000007.14:35250176:C:G p.(Ala52Pro) NC_000007.14:35250176:C:G p.(Ala52Pro) NC_000007.14:35250176:C:G Identity +NM_001317924.2:c.947G>C NP_001304853.1:p.Cys316Ser NC_000004.12:39218052:G:C p.(Cys316Ser) NC_000004.12:39218052:G:C p.(Cys316Ser) NC_000004.12:39218052:G:C Identity +NM_004621.6:c.1515G>A NP_004612.2:p.Met505Ile NC_000011.10:101476529:C:T p.(Met505Ile) NC_000011.10:101476529:C:T p.(Met505Ile) NC_000011.10:101476529:C:T Identity +NM_001301031.1:c.1285C>T NP_001287960.1:p.Pro429Ser NC_000015.10:65625364:C:T p.(Pro429Ser) NC_000015.10:65625364:C:T p.(Pro429Ser) NC_000015.10:65625364:C:T Identity +NM_001174116.3:c.3694C>G NP_001167587.1:p.Leu1232Val NC_000015.10:51499529:G:C p.(Leu1232Val) NC_000015.10:51499529:G:C p.(Leu1232Val) NC_000015.10:51499529:G:C Identity +NM_014141.6:c.655T>G NP_054860.1:p.Ser219Ala NC_000007.14:147108250:T:G p.(Ser219Ala) NC_000007.14:147108250:T:G p.(Ser219Ala) NC_000007.14:147108250:T:G Identity +NM_001413017.1:c.278_291dup NP_001399946.1:p.Ser101Glyfs NC_000008.11:144517103:GCCCTGGCGGCTCCGCCCTGGCG:GCCCTGGCGGCTCCGCCCTGGCGGCTCCGCCCTGGCG p.(Ser101GlyfsTer18) NC_000008.11:144517103:GCCCTGGCGGCTCCGCCCTGGCG:GCCCTGGCGGCTCCGCCCTGGCGGCTCCGCCCTGGCG p.(Ser101GlyfsTer18) ERR:SPDI Analogous +NM_001278055.2:c.12434A>C NP_001264984.1:p.His4145Pro NC_000013.11:23331000:T:G p.(His4145Pro) NC_000013.11:23331000:T:G p.(His4145Pro) NC_000013.11:23331000:T:G Identity +NM_001354927.2:c.351G>C NP_001341856.1:p.Glu117Asp NC_000009.12:35065340:C:G p.(Glu117Asp) NC_000009.12:35065340:C:G p.(Glu117Asp) NC_000009.12:35065340:C:G Identity +NM_001367624.2:c.11250_11259dup NP_001354553.1:p.Ser3754fs NC_000016.10:88438710:CAGCCAGCCCCAGCCAGCC:CAGCCAGCCCCAGCCAGCCCCAGCCAGCC p.(Ser3754ProfsTer48) NC_000016.10:88438710:CAGCCAGCCCCAGCCAGCC:CAGCCAGCCCCAGCCAGCCCCAGCCAGCC p.(Ser3754ProfsTer48) ERR:SPDI Analogous +NM_000322.5:c.407del NP_000313.2:p.Asn136fs NC_000006.12:42721927:TT:T p.(Asn136ThrfsTer3) NC_000006.12:42721927:TT:T p.(Asn136ThrfsTer3) NC_000006.12:42721927:T: Analogous +NM_001099271.2:c.493C>T NP_001092741.1:p.Leu165Phe NC_000005.10:75702624:G:A p.(Leu165Phe) NC_000005.10:75702624:G:A p.(Leu165Phe) NC_000005.10:75702624:G:A Identity +NM_000257.4:c.2139C>G NP_000248.2:p.Ile713Met NC_000014.9:23425986:G:C p.(Ile713Met) NC_000014.9:23425986:G:C p.(Ile713Met) NC_000014.9:23425986:G:C Identity +NM_001184751.2:c.1841T>G NP_001171680.1:p.Leu614Arg NC_000011.10:46705564:T:G p.(Leu614Arg) NC_000011.10:46705564:T:G p.(Leu614Arg) NC_000011.10:46705564:T:G Identity +NM_030943.4:c.998C>G NP_112205.2:p.Ala333Gly NC_000014.9:102930077:C:G p.(Ala333Gly) NC_000014.9:102930077:C:G p.(Ala333Gly) NC_000014.9:102930077:C:G Identity +NM_000350.3:c.4498C>T NP_000341.2:p.Pro1500Ser NC_000001.11:94029485:G:A p.(Pro1500Ser) NC_000001.11:94029485:G:A p.(Pro1500Ser) NC_000001.11:94029485:G:A Identity +NM_001256269.2:c.197C>T NP_001243198.1:p.Thr66Met NC_000016.10:29798598:C:T p.(Thr66Met) NC_000016.10:29798598:C:T p.(Thr66Met) NC_000016.10:29798598:C:T Identity +NM_001324281.3:c.1250T>G NP_001311210.1:p.Met417Arg NC_000007.14:2937127:A:C p.(Met417Arg) NC_000007.14:2937127:A:C p.(Met417Arg) NC_000007.14:2937127:A:C Identity +NM_001010892.3:c.389A>G NP_001010892.1:p.Gln130Arg NC_000006.12:116617011:A:G p.(Gln130Arg) NC_000006.12:116617011:A:G p.(Gln130Arg) NC_000006.12:116617011:A:G Identity +NM_000553.6:c.1559A>G NP_000544.2:p.Glu520Gly NC_000008.11:31087902:A:G p.(Glu520Gly) NC_000008.11:31087902:A:G p.(Glu520Gly) NC_000008.11:31087902:A:G Identity +NM_006397.3:c.94G>A NP_006388.2:p.Gly32Ser NC_000019.10:12806766:G:A p.(Gly32Ser) NC_000019.10:12806766:G:A p.(Gly32Ser) NC_000019.10:12806766:G:A Identity +NM_000251.3:c.1499C>G NP_000242.1:p.Ala500Gly NC_000002.12:47463142:C:G p.(Ala500Gly) NC_000002.12:47463142:C:G p.(Ala500Gly) NC_000002.12:47463142:C:G Identity +NM_001042692.3:c.1465G>T NP_001036157.1:p.Asp489Tyr NC_000002.12:63174805:C:A p.(Asp489Tyr) NC_000002.12:63174805:C:A p.(Asp489Tyr) NC_000002.12:63174805:C:A Identity +NM_001256850.1:c.61569del NP_001243779.1:p.Val20524fs NC_000002.12:178581775:TTT:TT p.(Val20524TyrfsTer9) NC_000002.12:178581775:TTT:TT p.(Val20524TyrfsTer9) NC_000002.12:178581775:T: Analogous +NM_001379500.1:c.1267G>A NP_001366429.1:p.Gly423Ser NC_000021.9:45479919:G:A p.(Gly423Ser) NC_000021.9:45479919:G:A p.(Gly423Ser) NC_000021.9:45479919:G:A Identity +NM_001282751.2:c.878T>C NP_001269680.1:p.Val293Ala NC_000001.11:172589667:T:C p.(Val293Ala) NC_000001.11:172589667:T:C p.(Val293Ala) NC_000001.11:172589667:T:C Identity +NM_001142763.2:c.1435C>G NP_001136235.1:p.Gln479Glu NC_000010.11:54185153:G:C p.(Gln479Glu) NC_000010.11:54185153:G:C p.(Gln479Glu) NC_000010.11:54185153:G:C Identity +NM_000081.4:c.1057T>G NP_000072.2:p.Leu353Val NC_000001.11:235809760:A:C p.(Leu353Val) NC_000001.11:235809760:A:C p.(Leu353Val) NC_000001.11:235809760:A:C Identity +NM_001410805.1:c.582_585ATTG[1] NP_001397734.1:p.Ile196Lysfs NC_000003.12:128902619:GATTGATTG:GATTG p.(Ile196LysfsTer2) NC_000003.12:128902620:ATTG:ATTG ERR:Parse ERR:Parse Different +NM_001310332.2:c.2107G>C NP_001297261.1:p.Glu703Gln NC_000014.9:24157355:G:C p.(Glu703Gln) NC_000014.9:24157355:G:C p.(Glu703Gln) NC_000014.9:24157355:G:C Identity +NM_001252650.2:c.740T>C NP_001239579.1:p.Ile247Thr NC_000014.9:67678327:A:G p.(Ile247Thr) NC_000014.9:67678327:A:G p.(Ile247Thr) NC_000014.9:67678327:A:G Identity +NM_001164665.2:c.85G>T NP_001158137.1:p.Gly29Cys NC_000007.14:138981184:C:A p.(Gly29Cys) NC_000007.14:138981184:C:A p.(Gly29Cys) NC_000007.14:138981184:C:A Identity +NM_007227.3:c.883C>A NP_009158.3:p.Arg295Ser NC_000002.12:105242740:C:A p.(Arg295Ser) NC_000002.12:105242740:C:A p.(Arg295Ser) NC_000002.12:105242740:C:A Identity +NM_006364.4:c.281T>C NP_006355.2:p.Phe94Ser NC_000014.9:39092625:A:G p.(Phe94Ser) NC_000014.9:39092625:A:G p.(Phe94Ser) NC_000014.9:39092625:A:G Identity +NM_001127178.3:c.2766C>G NP_001120650.1:p.Cys922Trp NC_000004.12:539182:C:G p.(Cys922Trp) NC_000004.12:539182:C:G p.(Cys922Trp) NC_000004.12:539182:C:G Identity +NM_000094.4:c.5045G>A NP_000085.1:p.Gly1682Glu NC_000003.12:48580587:C:T p.(Gly1682Glu) NC_000003.12:48580587:C:T p.(Gly1682Glu) NC_000003.12:48580587:C:T Identity +NM_001134335.2:c.1768C>T NP_001127807.1:p.Leu590Phe NC_000007.14:6024794:G:A p.(Leu590Phe) NC_000007.14:6024794:G:A p.(Leu590Phe) NC_000007.14:6024794:G:A Identity +NM_001029883.3:c.467C>T NP_001025054.1:p.Thr156Ile NC_000002.12:29073794:G:A p.(Thr156Ile) NC_000002.12:29073794:G:A p.(Thr156Ile) NC_000002.12:29073794:G:A Identity +NM_000051.4:c.2890del NP_000042.3:p.Glu964fs NC_000011.10:108271113:GG:G p.(Glu964LysfsTer7) NC_000011.10:108271113:GG:G p.(Glu964LysfsTer7) NC_000011.10:108271114:G: Analogous +NM_001197104.2:c.1582A>T NP_001184033.1:p.Ser528Cys NC_000011.10:118472740:A:T p.(Ser528Cys) NC_000011.10:118472740:A:T p.(Ser528Cys) NC_000011.10:118472740:A:T Identity +NM_001288781.1:c.153G>A NP_001275710.1:p.Met51Ile NC_000014.9:88839489:G:A p.(Met51Ile) NC_000014.9:88839489:G:A p.(Met51Ile) NC_000014.9:88839489:G:A Identity +NM_172364.5:c.1948G>T NP_758952.4:p.Val650Leu NC_000012.12:1858636:C:A p.(Val650Leu) NC_000012.12:1858636:C:A p.(Val650Leu) NC_000012.12:1858636:C:A Identity +NM_020928.2:c.1596G>C NP_065979.1:p.Gln532His NC_000005.10:61525881:G:C p.(Gln532His) NC_000005.10:61525881:G:C p.(Gln532His) NC_000005.10:61525881:G:C Identity +NM_001282948.2:c.2593G>A NP_001269877.1:p.Glu865Lys NC_000010.11:63208529:C:T p.(Glu865Lys) NC_000010.11:63208529:C:T p.(Glu865Lys) NC_000010.11:63208529:C:T Identity +NM_015909.4:c.1306A>C NP_056993.2:p.Thr436Pro NC_000002.12:15475721:T:G p.(Thr436Pro) NC_000002.12:15475721:T:G p.(Thr436Pro) NC_000002.12:15475721:T:G Identity +NM_001077397.1:c.430C>T NP_001070865.1:p.Gln144Ter NC_000001.11:234609064:G:A p.(Gln144Ter) NC_000001.11:234609064:G:A p.(Gln144Ter) NC_000001.11:234609064:G:A Identity +NM_153461.4:c.149A>G NP_703191.2:p.Gln50Arg NC_000003.12:9917463:A:G p.(Gln50Arg) NC_000003.12:9917463:A:G p.(Gln50Arg) NC_000003.12:9917463:A:G Identity +NM_001164097.2:c.3890A>G NP_001157569.1:p.Tyr1297Cys NC_000005.10:83539853:A:G p.(Tyr1297Cys) NC_000005.10:83539853:A:G p.(Tyr1297Cys) NC_000005.10:83539853:A:G Identity +NM_001135999.2:c.2444C>T NP_001129471.2:p.Pro815Leu NC_000009.12:35555488:C:T p.(Pro815Leu) NC_000009.12:35555488:C:T p.(Pro815Leu) NC_000009.12:35555488:C:T Identity +NM_005876.5:c.6286G>A NP_005867.3:p.Gly2096Arg NC_000002.12:219483748:G:A p.(Gly2096Arg) NC_000002.12:219483748:G:A p.(Gly2096Arg) NC_000002.12:219483748:G:A Identity +NM_001199771.3:c.233C>T NP_001186700.1:p.Thr78Ile NC_000012.12:55721416:C:T p.(Thr78Ile) NC_000012.12:55721416:C:T p.(Thr78Ile) NC_000012.12:55721416:C:T Identity +NM_001079812.3:c.1649A>G NP_001073280.1:p.Lys550Arg NC_000005.10:141574173:T:C p.(Lys550Arg) NC_000005.10:141574173:T:C p.(Lys550Arg) NC_000005.10:141574173:T:C Identity +NM_001099403.2:c.1465G>C NP_001092873.1:p.Gly489Arg NC_000004.12:80202926:G:C p.(Gly489Arg) NC_000004.12:80202926:G:C p.(Gly489Arg) NC_000004.12:80202926:G:C Identity +NM_001143838.3:c.1484T>G NP_001137310.1:p.Phe495Cys NC_000017.11:6686291:A:C p.(Phe495Cys) NC_000017.11:6686291:A:C p.(Phe495Cys) NC_000017.11:6686291:A:C Identity +NM_001206927.2:c.12492T>G NP_001193856.1:p.His4164Gln NC_000006.12:38971631:T:G p.(His4164Gln) NC_000006.12:38971631:T:G p.(His4164Gln) NC_000006.12:38971631:T:G Identity +NM_025114.4:c.4124T>A NP_079390.3:p.Leu1375Ter NC_000012.12:88087849:A:T p.(Leu1375Ter) NC_000012.12:88087849:A:T p.(Leu1375Ter) NC_000012.12:88087849:A:T Identity +NM_000127.3:c.194del NP_000118.2:p.Phe65fs NC_000008.11:118110852:AA:A p.(Phe65SerfsTer71) NC_000008.11:118110852:AA:A p.(Phe65SerfsTer71) NC_000008.11:118110852:A: Analogous +NM_198525.3:c.1904G>C NP_940927.2:p.Arg635Pro NC_000015.10:89645910:C:G p.(Arg635Pro) NC_000015.10:89645910:C:G p.(Arg635Pro) NC_000015.10:89645910:C:G Identity +NM_032119.4:c.7306C>A NP_115495.3:p.Leu2436Met NC_000005.10:90694061:C:A p.(Leu2436Met) NC_000005.10:90694061:C:A p.(Leu2436Met) NC_000005.10:90694061:C:A Identity +NM_000138.5:c.7478_7488del NP_000129.3:p.Gln2493fs NC_000015.10:48422033:GCAGTTGTGTTGC:GC p.(Gln2493ProfsTer6) NC_000015.10:48422033:GCAGTTGTGTTGC:GC p.(Gln2493ProfsTer6) NC_000015.10:48422033:GCAGTTGTGTT: Analogous +NM_000350.3:c.613T>C NP_000341.2:p.Cys205Arg NC_000001.11:94098948:A:G p.(Cys205Arg) NC_000001.11:94098948:A:G p.(Cys205Arg) NC_000001.11:94098948:A:G Identity +NM_004501.3:c.1198C>T NP_004492.2:p.Leu400Phe NC_000001.11:244858249:G:A p.(Leu400Phe) NC_000001.11:244858249:G:A p.(Leu400Phe) NC_000001.11:244858249:G:A Identity +NM_018190.4:c.880G>A NP_060660.2:p.Gly294Ser NC_000004.12:121848897:C:T p.(Gly294Ser) NC_000004.12:121848897:C:T p.(Gly294Ser) NC_000004.12:121848897:C:T Identity +NM_001256182.2:c.4370_4373del NP_001243111.1:p.Lys1457fs NC_000016.10:89282168:TCTTT:T p.(Lys1457ArgfsTer73) NC_000016.10:89282168:TCTTT:T p.(Lys1457ArgfsTer73) NC_000016.10:89282168:TCTT: Analogous +NM_001146.5:c.781C>A NP_001137.2:p.Leu261Ile NC_000008.11:107321922:G:T p.(Leu261Ile) NC_000008.11:107321922:G:T p.(Leu261Ile) NC_000008.11:107321922:G:T Identity +NM_024640.4:c.52G>A NP_078916.3:p.Val18Met NC_000001.11:37808128:C:T p.(Val18Met) NC_000001.11:37808128:C:T p.(Val18Met) NC_000001.11:37808128:C:T Identity +NM_001042663.3:c.565G>A NP_001036128.2:p.Gly189Arg NC_000001.11:6474149:C:T p.(Gly189Arg) NC_000001.11:6474149:C:T p.(Gly189Arg) NC_000001.11:6474149:C:T Identity +NM_006767.4:c.1685T>C NP_006758.2:p.Leu562Pro NC_000022.11:20994626:T:C p.(Leu562Pro) NC_000022.11:20994626:T:C p.(Leu562Pro) NC_000022.11:20994626:T:C Identity +NM_000151.4:c.800C>G NP_000142.2:p.Thr267Arg NC_000017.11:42911151:C:G p.(Thr267Arg) NC_000017.11:42911151:C:G p.(Thr267Arg) NC_000017.11:42911151:C:G Identity +NM_001621.5:c.1603A>G NP_001612.1:p.Lys535Glu NC_000007.14:17339427:A:G p.(Lys535Glu) NC_000007.14:17339427:A:G p.(Lys535Glu) NC_000007.14:17339427:A:G Identity +NM_001376911.1:c.2111A>T NP_001363840.1:p.Asp704Val NC_000015.10:89292805:A:T p.(Asp704Val) NC_000015.10:89292805:A:T p.(Asp704Val) NC_000015.10:89292805:A:T Identity +NM_001282948.2:c.3133C>T NP_001269877.1:p.Leu1045Phe NC_000010.11:63207989:G:A p.(Leu1045Phe) NC_000010.11:63207989:G:A p.(Leu1045Phe) NC_000010.11:63207989:G:A Identity +NM_002335.4:c.322del NP_002326.2:p.Val108fs NC_000011.10:68348075:GG:G p.(Val108SerfsTer93) NC_000011.10:68348075:GG:G p.(Val108SerfsTer93) NC_000011.10:68348076:G: Analogous +NM_017934.7:c.3178G>T NP_060404.4:p.Asp1060Tyr NC_000006.12:78969861:C:A p.(Asp1060Tyr) NC_000006.12:78969861:C:A p.(Asp1060Tyr) NC_000006.12:78969861:C:A Identity +NM_001164716.1:c.122_126del NP_001158188.1:p.Val41fs NC_000011.10:64759772:CTTTAC:C p.(Val41GlyfsTer35) NC_000011.10:64759772:CTTTAC:C p.(Val41GlyfsTer35) NC_000011.10:64759772:CTTTA: Analogous +NM_001317163.2:c.833G>C NP_001304092.1:p.Arg278Thr NC_000009.12:121027217:C:G p.(Arg278Thr) NC_000009.12:121027217:C:G p.(Arg278Thr) NC_000009.12:121027217:C:G Identity +NM_001006657.2:c.2592A>T NP_001006658.1:p.Gln864His NC_000002.12:19933499:T:A p.(Gln864His) NC_000002.12:19933499:T:A p.(Gln864His) NC_000002.12:19933499:T:A Identity +NM_001349253.2:c.3316G>T NP_001336182.1:p.Val1106Leu NC_000003.12:38880026:C:A p.(Val1106Leu) NC_000003.12:38880026:C:A p.(Val1106Leu) NC_000003.12:38880026:C:A Identity +NM_006734.4:c.6463C>T NP_006725.3:p.Pro2155Ser NC_000006.12:142759824:G:A p.(Pro2155Ser) NC_000006.12:142759824:G:A p.(Pro2155Ser) NC_000006.12:142759824:G:A Identity +NM_001182.5:c.1524dup NP_001173.2:p.Gly509fs NC_000005.10:126546364:A:AA p.(Gly509TrpfsTer3) NC_000005.10:126546364:A:AA p.(Gly509TrpfsTer3) ERR:SPDI Analogous +NM_001201484.2:c.1982C>G NP_001188413.1:p.Ser661Cys NC_000009.12:35089128:G:C p.(Ser661Cys) NC_000009.12:35089128:G:C p.(Ser661Cys) NC_000009.12:35089128:G:C Identity +NM_001160302.2:c.2494C>G NP_001153774.1:p.Gln832Glu NC_000021.9:32657087:G:C p.(Gln832Glu) NC_000021.9:32657087:G:C p.(Gln832Glu) NC_000021.9:32657087:G:C Identity +NM_001379500.1:c.3542G>A NP_001366429.1:p.Gly1181Asp NC_000021.9:45510109:G:A p.(Gly1181Asp) NC_000021.9:45510109:G:A p.(Gly1181Asp) NC_000021.9:45510109:G:A Identity +NM_022166.4:c.2549T>C NP_071449.1:p.Ile850Thr NC_000016.10:17117653:A:G p.(Ile850Thr) NC_000016.10:17117653:A:G p.(Ile850Thr) NC_000016.10:17117653:A:G Identity +NM_020987.5:c.10348G>C NP_066267.2:p.Gly3450Arg NC_000010.11:60070532:C:G p.(Gly3450Arg) NC_000010.11:60070532:C:G p.(Gly3450Arg) NC_000010.11:60070532:C:G Identity +NM_001318219.1:c.1585A>G NP_001305148.1:p.Ser529Gly NC_000020.11:35497892:A:G p.(Ser529Gly) NC_000020.11:35497892:A:G p.(Ser529Gly) NC_000020.11:35497892:A:G Identity +NM_002876.4:c.319C>G NP_002867.1:p.Leu107Val NC_000017.11:58695103:C:G p.(Leu107Val) NC_000017.11:58695103:C:G p.(Leu107Val) NC_000017.11:58695103:C:G Identity +NM_001164507.2:c.5771A>C NP_001157979.2:p.Tyr1924Ser NC_000002.12:151662333:T:G p.(Tyr1924Ser) NC_000002.12:151662333:T:G p.(Tyr1924Ser) NC_000002.12:151662333:T:G Identity +NM_001317184.2:c.1623_1624del NP_001304113.1:p.Phe541fs NC_000016.10:68822093:TCT:T p.(Phe541LeufsTer2) NC_000016.10:68822093:TCT:T p.(Phe541LeufsTer2) NC_000016.10:68822094:CT: Analogous +NM_005732.4:c.3020A>T NP_005723.2:p.Asp1007Val NC_000005.10:132609379:A:T p.(Asp1007Val) NC_000005.10:132609379:A:T p.(Asp1007Val) NC_000005.10:132609379:A:T Identity +NM_001308093.3:c.990G>C NP_001295022.1:p.Lys330Asn NC_000008.11:11755122:G:C p.(Lys330Asn) NC_000008.11:11755122:G:C p.(Lys330Asn) NC_000008.11:11755122:G:C Identity +NM_014510.3:c.5555A>G NP_055325.2:p.His1852Arg NC_000007.14:82955397:T:C p.(His1852Arg) NC_000007.14:82955397:T:C p.(His1852Arg) NC_000007.14:82955397:T:C Identity +NM_001065.4:c.337G>A NP_001056.1:p.Glu113Lys NC_000012.12:6333501:C:T p.(Glu113Lys) NC_000012.12:6333501:C:T p.(Glu113Lys) NC_000012.12:6333501:C:T Identity +NM_033071.5:c.13967G>A NP_149062.2:p.Gly4656Glu NC_000006.12:152330504:C:T p.(Gly4656Glu) NC_000006.12:152330504:C:T p.(Gly4656Glu) NC_000006.12:152330504:C:T Identity +NM_001382777.1:c.1305C>A NP_001369706.1:p.Phe435Leu NC_000002.12:9493774:G:T p.(Phe435Leu) NC_000002.12:9493774:G:T p.(Phe435Leu) NC_000002.12:9493774:G:T Identity +NM_000363.5:c.92C>G NP_000354.4:p.Thr31Arg NC_000019.10:55157065:G:C p.(Thr31Arg) NC_000019.10:55157065:G:C p.(Thr31Arg) NC_000019.10:55157065:G:C Identity +NM_002470.4:c.3254A>G NP_002461.2:p.Asp1085Gly NC_000017.11:10638957:T:C p.(Asp1085Gly) NC_000017.11:10638957:T:C p.(Asp1085Gly) NC_000017.11:10638957:T:C Identity +NM_001034852.3:c.1037G>T NP_001030024.1:p.Gly346Val NC_000014.9:70013481:G:T p.(Gly346Val) NC_000014.9:70013481:G:T p.(Gly346Val) NC_000014.9:70013481:G:T Identity +NM_001318245.2:c.4696G>A NP_001305174.1:p.Asp1566Asn NC_000022.11:25898330:G:A p.(Asp1566Asn) NC_000022.11:25898330:G:A p.(Asp1566Asn) NC_000022.11:25898330:G:A Identity +NM_001256849.1:c.1955G>T NP_001243778.1:p.Arg652Leu NC_000019.10:50409183:G:T p.(Arg652Leu) NC_000019.10:50409183:G:T p.(Arg652Leu) NC_000019.10:50409183:G:T Identity +NM_001410772.1:c.1504T>G NP_001397701.1:p.Ser502Ala NC_000003.12:52403586:A:C p.(Ser502Ala) NC_000003.12:52403586:A:C p.(Ser502Ala) NC_000003.12:52403586:A:C Identity +NM_001008211.1:c.536T>A NP_001008212.1:p.Val179Asp NC_000010.11:13112618:T:A p.(Val179Asp) NC_000010.11:13112618:T:A p.(Val179Asp) NC_000010.11:13112618:T:A Identity +NM_020693.4:c.5425G>C NP_065744.3:p.Glu1809Gln NC_000011.10:117430982:C:G p.(Glu1809Gln) NC_000011.10:117430982:C:G p.(Glu1809Gln) NC_000011.10:117430982:C:G Identity +NM_001271466.4:c.1162C>G NP_001258395.2:p.Arg388Gly NC_000002.12:231271023:C:G p.(Arg388Gly) NC_000002.12:231271023:C:G p.(Arg388Gly) NC_000002.12:231271023:C:G Identity +NM_000075.4:c.160G>C NP_000066.1:p.Val54Leu NC_000012.12:57751557:C:G p.(Val54Leu) NC_000012.12:57751557:C:G p.(Val54Leu) NC_000012.12:57751557:C:G Identity +NM_001195573.1:c.4049A>G NP_001182502.1:p.Lys1350Arg NC_000014.9:95103346:T:C p.(Lys1350Arg) NC_000014.9:95103346:T:C p.(Lys1350Arg) NC_000014.9:95103346:T:C Identity +NM_001291285.3:c.10006C>T NP_001278214.1:p.His3336Tyr NC_000004.12:125451015:C:T p.(His3336Tyr) NC_000004.12:125451015:C:T p.(His3336Tyr) NC_000004.12:125451015:C:T Identity +NM_001286577.2:c.3226G>C NP_001273506.1:p.Glu1076Gln NC_000011.10:74093933:C:G p.(Glu1076Gln) NC_000011.10:74093933:C:G p.(Glu1076Gln) NC_000011.10:74093933:C:G Identity +NM_001330660.2:c.1553G>A NP_001317589.1:p.Arg518Gln NC_000009.12:35739656:C:T p.(Arg518Gln) NC_000009.12:35739656:C:T p.(Arg518Gln) NC_000009.12:35739656:C:T Identity +NM_018112.3:c.548C>G NP_060582.1:p.Ala183Gly NC_000009.12:105748077:C:G p.(Ala183Gly) NC_000009.12:105748077:C:G p.(Ala183Gly) NC_000009.12:105748077:C:G Identity +NM_001348081.2:c.1078A>G NP_001335010.1:p.Met360Val NC_000008.11:13401564:T:C p.(Met360Val) NC_000008.11:13401564:T:C p.(Met360Val) NC_000008.11:13401564:T:C Identity +NM_032119.4:c.13321T>G NP_115495.3:p.Ser4441Ala NC_000005.10:90783212:T:G p.(Ser4441Ala) NC_000005.10:90783212:T:G p.(Ser4441Ala) NC_000005.10:90783212:T:G Identity +NM_001363813.1:c.489G>T NP_001350742.1:p.Lys163Asn NC_000017.11:65558131:C:A p.(Lys163Asn) NC_000017.11:65558131:C:A p.(Lys163Asn) NC_000017.11:65558131:C:A Identity +NM_001378418.1:c.4378C>A NP_001365347.1:p.Pro1460Thr NC_000022.11:42210927:G:T p.(Pro1460Thr) NC_000022.11:42210927:G:T p.(Pro1460Thr) NC_000022.11:42210927:G:T Identity +NM_001305275.2:c.1538G>A NP_001292204.1:p.Cys513Tyr NC_000001.11:1043391:G:A p.(Cys513Tyr) NC_000001.11:1043391:G:A p.(Cys513Tyr) NC_000001.11:1043391:G:A Identity +NM_001256267.2:c.557A>C NP_001243196.1:p.Glu186Ala NC_000010.11:68121994:A:C p.(Glu186Ala) NC_000010.11:68121994:A:C p.(Glu186Ala) NC_000010.11:68121994:A:C Identity +NM_001198536.2:c.1301G>T NP_001185465.2:p.Ser434Ile NC_000016.10:3243892:C:A p.(Ser434Ile) NC_000016.10:3243892:C:A p.(Ser434Ile) NC_000016.10:3243892:C:A Identity +NM_178012.5:c.3G>A NP_821080.1:p.Met1Ile NC_000006.12:3227540:C:T p.(Met1Ile) NC_000006.12:3227540:C:T p.Met1? NC_000006.12:3227540:C:T Identity +NM_001031689.3:c.191A>G NP_001026859.1:p.His64Arg NC_000009.12:26935164:T:C p.(His64Arg) NC_000009.12:26935164:T:C p.(His64Arg) NC_000009.12:26935164:T:C Identity +NM_001127660.2:c.2249_2250del NP_001121132.1:p.His750fs NC_000001.11:12011534:CACACAC:CACAC p.(His750ProfsTer12) NC_000001.11:12011534:CACACAC:CACAC p.(His750ProfsTer12) NC_000001.11:12011539:AC: Analogous +NM_001257970.1:c.1170C>G NP_001244899.1:p.Phe390Leu NC_000017.11:80191402:C:G p.(Phe390Leu) NC_000017.11:80191402:C:G p.(Phe390Leu) NC_000017.11:80191402:C:G Identity +NM_001080477.4:c.6969A>T NP_001073946.1:p.Glu2323Asp NC_000004.12:182793640:A:T p.(Glu2323Asp) NC_000004.12:182793640:A:T p.(Glu2323Asp) NC_000004.12:182793640:A:T Identity +NM_001291902.2:c.1625T>G NP_001278831.1:p.Leu542Arg NC_000011.10:68425232:T:G p.(Leu542Arg) NC_000011.10:68425232:T:G p.(Leu542Arg) NC_000011.10:68425232:T:G Identity +NM_000081.4:c.5333AAG[1] NP_000072.2:p.Glu1779del NC_000001.11:235777184:CTTCTT:CTT p.(Glu1779del) NC_000001.11:235777189:T:CTT ERR:Parse ERR:Parse Identity +NM_001321309.2:c.3965A>G NP_001308238.1:p.Tyr1322Cys NC_000003.12:123647349:T:C p.(Tyr1322Cys) NC_000003.12:123647349:T:C p.(Tyr1322Cys) NC_000003.12:123647349:T:C Identity +NM_004975.4:c.607A>T NP_004966.1:p.Thr203Ser NC_000020.11:49374952:T:A p.(Thr203Ser) NC_000020.11:49374952:T:A p.(Thr203Ser) NC_000020.11:49374952:T:A Identity +NM_001142571.2:c.1002G>C NP_001136043.1:p.Trp334Cys NC_000017.11:35100997:C:G p.(Trp334Cys) NC_000017.11:35100997:C:G p.(Trp334Cys) NC_000017.11:35100997:C:G Identity +NM_001163812.2:c.1349G>A NP_001157284.1:p.Arg450Lys NC_000010.11:100989748:G:A p.(Arg450Lys) NC_000010.11:100989748:G:A p.(Arg450Lys) NC_000010.11:100989748:G:A Identity +NM_000465.4:c.94G>T NP_000456.2:p.Gly32Cys NC_000002.12:214809475:C:A p.(Gly32Cys) NC_000002.12:214809475:C:A p.(Gly32Cys) NC_000002.12:214809475:C:A Identity +NM_052876.4:c.1363G>A NP_443108.1:p.Glu455Lys NC_000019.10:13138184:G:A p.(Glu455Lys) NC_000019.10:13138184:G:A p.(Glu455Lys) NC_000019.10:13138184:G:A Identity +NM_000891.3:c.1198A>G NP_000882.1:p.Thr400Ala NC_000017.11:70176236:A:G p.(Thr400Ala) NC_000017.11:70176236:A:G p.(Thr400Ala) NC_000017.11:70176236:A:G Identity +NM_005876.5:c.1066AAG[1] NP_005867.3:p.Lys357del NC_000002.12:219448222:GAAGAAG:GAAG p.(Lys357del) NC_000002.12:219448223:A:AAG ERR:Parse ERR:Parse Identity +NM_001128175.2:c.204del NP_001121647.1:p.Asn68fs NC_000018.10:34794091:C: p.(Asn68LysfsTer14) NC_000018.10:34794091:C: p.(Asn68LysfsTer14) NC_000018.10:34794091:C: Analogous +NM_000190.4:c.1040C>A NP_000181.2:p.Ala347Asp NC_000011.10:119093236:C:A p.(Ala347Asp) NC_000011.10:119093236:C:A p.(Ala347Asp) NC_000011.10:119093236:C:A Identity +NM_001349646.2:c.121A>G NP_001336575.1:p.Asn41Asp NC_000001.11:213071020:A:G p.(Asn41Asp) NC_000001.11:213071020:A:G p.(Asn41Asp) NC_000001.11:213071020:A:G Identity +LRG_27t1:c.4148C>T LRG_27p1:p.Thr1383Ile NC_000019.10:6684411:G:A ERR:Data provider error: ValueError: Transcript LRG_27t1 not found ERR:Data provider error: ValueError: Transcript LRG_27t1 not found ERR:AlignmentMapper(tx_ac=LRG_27t1, alt_ac=LRG_27t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_27t1, alt_ac=LRG_27t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_27t1 not found +NM_001024847.3:c.1115T>A NP_001020018.1:p.Leu372Gln NC_000003.12:30672222:T:A p.(Leu372Gln) NC_000003.12:30672222:T:A p.(Leu372Gln) NC_000003.12:30672222:T:A Identity +NM_001256959.2:c.1579A>G NP_001243888.2:p.Asn527Asp NC_000001.11:11834353:A:G p.(Asn527Asp) NC_000001.11:11834353:A:G p.(Asn527Asp) NC_000001.11:11834353:A:G Identity +NM_001410705.1:c.3995C>T NP_001397634.1:p.Thr1332Met NC_000023.11:153954403:G:A p.(Thr1332Met) NC_000023.11:153954403:G:A p.(Thr1332Met) NC_000023.11:153954403:G:A Identity +NM_000063.6:c.1484C>T NP_000054.2:p.Ala495Val NC_000006.12:31943443:C:T p.(Ala495Val) NC_000006.12:31943443:C:T p.(Ala495Val) NC_000006.12:31943443:C:T Identity +NM_001243952.2:c.875A>G NP_001230881.2:p.Lys292Arg NC_000005.10:62361324:A:G p.(Lys292Arg) NC_000005.10:62361324:A:G p.(Lys292Arg) NC_000005.10:62361324:A:G Identity +NM_006231.4:c.4038del NP_006222.2:p.Arg1346fs NC_000012.12:132649039:CC:C p.(Arg1346SerfsTer15) NC_000012.12:132649039:CC:C p.(Arg1346SerfsTer15) NC_000012.12:132649039:C: Analogous +NM_000198.4:c.783C>A NP_000189.1:p.His261Gln NC_000001.11:119422283:C:A p.(His261Gln) NC_000001.11:119422283:C:A p.(His261Gln) NC_000001.11:119422283:C:A Identity +NM_001080114.2:c.826G>A NP_001073583.1:p.Glu276Lys NC_000010.11:86709974:G:A p.(Glu276Lys) NC_000010.11:86709974:G:A p.(Glu276Lys) NC_000010.11:86709974:G:A Identity +NM_000254.3:c.2221A>G NP_000245.2:p.Lys741Glu NC_000001.11:236862259:A:G p.(Lys741Glu) NC_000001.11:236862259:A:G p.(Lys741Glu) NC_000001.11:236862259:A:G Identity +NM_001278293.3:c.107A>G NP_001265222.1:p.Lys36Arg NC_000003.12:97768213:A:G p.(Lys36Arg) NC_000003.12:97768213:A:G p.(Lys36Arg) NC_000003.12:97768213:A:G Identity +NM_001130438.3:c.6691A>G NP_001123910.1:p.Thr2231Ala NC_000009.12:128627925:A:G p.(Thr2231Ala) NC_000009.12:128627925:A:G p.(Thr2231Ala) NC_000009.12:128627925:A:G Identity +NM_000352.6:c.2431_2435dup NP_000343.2:p.Asp812fs NC_000011.10:17413433:TCGAT:TCGATTCGAT p.(Asp812GlufsTer54) NC_000011.10:17413433:TCGAT:TCGATTCGAT p.(Asp812GlufsTer54) ERR:SPDI Analogous +NM_205850.3:c.133del NP_995322.1:p.Gln45fs NC_000015.10:48121865:CCC:CC p.(Gln45AsnfsTer26) NC_000015.10:48121865:CCC:CC p.(Gln45AsnfsTer26) NC_000015.10:48121867:C: Analogous +NM_000414.4:c.1426_1429del NP_000405.1:p.Asp476fs NC_000005.10:119509230:CAGACA:CA p.(Asp476LysfsTer4) NC_000005.10:119509230:CAGACA:CA p.(Asp476LysfsTer4) NC_000005.10:119509232:GACA: Analogous +NM_001326358.2:c.2992C>T NP_001313287.1:p.Arg998Ter NC_000016.10:77289305:G:A p.(Arg998Ter) NC_000016.10:77289305:G:A p.(Arg998Ter) NC_000016.10:77289305:G:A Identity +NM_017934.7:c.1688G>A NP_060404.4:p.Arg563Gln NC_000006.12:79002089:C:T p.(Arg563Gln) NC_000006.12:79002089:C:T p.(Arg563Gln) NC_000006.12:79002089:C:T Identity +NM_198506.5:c.235_236insC NP_940908.3:p.Tyr79fs NC_000004.12:109851622::C p.(Tyr79SerfsTer19) NC_000004.12:109851621:T:C p.(Tyr79SerfsTer19) NC_000004.12:109851622:TA:C Analogous +NM_001242385.2:c.1163G>A NP_001229314.1:p.Ser388Asn NC_000006.12:10791827:C:T p.(Ser388Asn) NC_000006.12:10791827:C:T p.(Ser388Asn) NC_000006.12:10791827:C:T Identity +NM_001111.5:c.599C>G NP_001102.3:p.Ser200Cys NC_000001.11:154602042:G:C p.(Ser200Cys) NC_000001.11:154602042:G:C p.(Ser200Cys) NC_000001.11:154602042:G:C Identity +NM_001048171.2:c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG NP_001041636.2:p.Ser298fs NC_000001.11:45332045:CCCGACAGGCTCCCTGAGGCT:CCCGACAGGCTCCCTGAGGCTTAGTCCCGACAGGCTCCCTGAGGCT p.(Ser298LeufsTer11) NC_000001.11:45332044:G:CCCGACAGGCTCCCTGAGGCTTAGT p.(Ser298LeufsTer11) NC_000001.11:45332045:GC:CCCGACAGGCTCCCTGAGGCTTAGT Analogous +NM_017890.5:c.3214G>T NP_060360.3:p.Glu1072Ter NC_000008.11:99442403:G:T p.(Glu1072Ter) NC_000008.11:99442403:G:T p.(Glu1072Ter) NC_000008.11:99442403:G:T Identity +NM_001145527.2:c.974G>A NP_001138999.1:p.Gly325Asp NC_000009.12:137743520:G:A p.(Gly325Asp) NC_000009.12:137743520:G:A p.(Gly325Asp) NC_000009.12:137743520:G:A Identity +NM_017780.4:c.4747del NP_060250.2:p.Ser1583fs NC_000008.11:60841947:TT:T p.(Ser1583LeufsTer57) NC_000008.11:60841947:TT:T p.(Ser1583LeufsTer57) NC_000008.11:60841948:T: Analogous +NM_001033604.2:c.2003A>G NP_001028776.1:p.Tyr668Cys NC_000007.14:33388136:A:G p.(Tyr668Cys) NC_000007.14:33388136:A:G p.(Tyr668Cys) NC_000007.14:33388136:A:G Identity +NM_001127178.3:c.653T>C NP_001120650.1:p.Leu218Pro NC_000004.12:507486:T:C p.(Leu218Pro) NC_000004.12:507486:T:C p.(Leu218Pro) NC_000004.12:507486:T:C Identity +NM_031935.3:c.16265G>C NP_114141.2:p.Gly5422Ala NC_000001.11:186178736:G:C p.(Gly5422Ala) NC_000001.11:186178736:G:C p.(Gly5422Ala) NC_000001.11:186178736:G:C Identity +NM_004459.7:c.8504A>G NP_004450.3:p.Glu2835Gly NC_000017.11:67975786:A:G p.(Glu2835Gly) NC_000017.11:67975786:A:G p.(Glu2835Gly) NC_000017.11:67975786:A:G Identity +NM_000663.5:c.959G>T NP_000654.2:p.Gly320Val NC_000016.10:8774893:G:T p.(Gly320Val) NC_000016.10:8774893:G:T p.(Gly320Val) NC_000016.10:8774893:G:T Identity +NM_001411127.1:c.2461G>A NP_001398056.1:p.Glu821Lys NC_000019.10:40396175:C:T p.(Glu821Lys) NC_000019.10:40396175:C:T p.(Glu821Lys) NC_000019.10:40396175:C:T Identity +NM_001195573.1:c.1406C>T NP_001182502.1:p.Pro469Leu NC_000014.9:95117724:G:A p.(Pro469Leu) NC_000014.9:95117724:G:A p.(Pro469Leu) NC_000014.9:95117724:G:A Identity +NM_001044385.3:c.1027G>A NP_001037850.1:p.Gly343Ser NC_000002.12:201627330:C:T p.(Gly343Ser) NC_000002.12:201627330:C:T p.(Gly343Ser) NC_000002.12:201627330:C:T Identity +NM_001160227.2:c.4985C>A NP_001153699.1:p.Thr1662Asn NC_000015.10:44585771:G:T p.(Thr1662Asn) NC_000015.10:44585771:G:T p.(Thr1662Asn) NC_000015.10:44585771:G:T Identity +NM_001042473.4:c.1192C>G NP_001035938.1:p.Arg398Gly NC_000010.11:27208352:G:C p.(Arg398Gly) NC_000010.11:27208352:G:C p.(Arg398Gly) NC_000010.11:27208352:G:C Identity +NM_001252020.2:c.1589T>C NP_001238949.1:p.Leu530Pro NC_000015.10:31049408:A:G p.(Leu530Pro) NC_000015.10:31049408:A:G p.(Leu530Pro) NC_000015.10:31049408:A:G Identity +NM_000338.3:c.960G>C NP_000329.2:p.Met320Ile NC_000015.10:48230487:G:C p.(Met320Ile) NC_000015.10:48230487:G:C p.(Met320Ile) NC_000015.10:48230487:G:C Identity +NM_000271.5:c.2836T>A NP_000262.2:p.Tyr946Asn NC_000018.10:23539429:A:T p.(Tyr946Asn) NC_000018.10:23539429:A:T p.(Tyr946Asn) NC_000018.10:23539429:A:T Identity +NM_006269.2:c.4096G>C NP_006260.1:p.Asp1366His NC_000008.11:54627977:G:C p.(Asp1366His) NC_000008.11:54627977:G:C p.(Asp1366His) NC_000008.11:54627977:G:C Identity +NM_172364.5:c.1013A>G NP_758952.4:p.Tyr338Cys NC_000012.12:1886019:T:C p.(Tyr338Cys) NC_000012.12:1886019:T:C p.(Tyr338Cys) NC_000012.12:1886019:T:C Identity +NM_000361.3:c.366G>A NP_000352.1:p.Trp122Ter NC_000020.11:23049138:C:T p.(Trp122Ter) NC_000020.11:23049138:C:T p.(Trp122Ter) NC_000020.11:23049138:C:T Identity +NM_001169109.2:c.674C>G NP_001162580.1:p.Ser225Cys NC_000022.11:50523737:G:C p.(Ser225Cys) NC_000022.11:50523737:G:C p.(Ser225Cys) NC_000022.11:50523737:G:C Identity +NM_006343.3:c.601A>G NP_006334.2:p.Lys201Glu NC_000002.12:111947410:A:G p.(Lys201Glu) NC_000002.12:111947410:A:G p.(Lys201Glu) NC_000002.12:111947410:A:G Identity +NM_000368.5:c.2848G>A NP_000359.1:p.Ala950Thr NC_000009.12:132897310:C:T p.(Ala950Thr) NC_000009.12:132897310:C:T p.(Ala950Thr) NC_000009.12:132897310:C:T Identity +NM_001291844.1:c.669C>G NP_001278773.1:p.Ile223Met NC_000007.14:50400320:C:G p.(Ile223Met) NC_000007.14:50400320:C:G p.(Ile223Met) NC_000007.14:50400320:C:G Identity +NM_001270949.2:c.688A>T NP_001257878.1:p.Ile230Phe NC_000018.10:62361750:A:T p.(Ile230Phe) NC_000018.10:62361750:A:T p.(Ile230Phe) NC_000018.10:62361750:A:T Identity +NM_001005407.2:c.6731G>T NP_001005407.1:p.Arg2244Leu NC_000016.10:1220680:G:T p.(Arg2244Leu) NC_000016.10:1220680:G:T p.(Arg2244Leu) NC_000016.10:1220680:G:T Identity +NM_001165960.1:c.1979del NP_001159432.1:p.Gly660fs NC_000017.11:8108568:CCC:CC p.(Gly660AlafsTer47) NC_000017.11:8108568:CCC:CC p.(Gly660AlafsTer47) NC_000017.11:8108568:C: Analogous +NM_001142574.2:c.812C>T NP_001136046.1:p.Ser271Phe NC_000007.14:128397014:G:A p.(Ser271Phe) NC_000007.14:128397014:G:A p.(Ser271Phe) NC_000007.14:128397014:G:A Identity +LRG_1253t1:c.530T>A LRG_1253p1:p.Ile177Asn NC_000020.11:62824454:T:A ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1253t1, alt_ac=LRG_1253t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1253t1 not found +NM_001411127.1:c.2602G>C NP_001398056.1:p.Glu868Gln NC_000019.10:40396034:C:G p.(Glu868Gln) NC_000019.10:40396034:C:G p.(Glu868Gln) NC_000019.10:40396034:C:G Identity +NM_000335.5:c.1157G>T NP_000326.2:p.Gly386Val NC_000003.12:38606131:C:A p.(Gly386Val) NC_000003.12:38606131:C:A p.(Gly386Val) NC_000003.12:38606131:C:A Identity +NM_001407041.1:c.766C>T NP_001393970.1:p.Gln256Ter NC_000018.10:51058222:C:T p.(Gln256Ter) NC_000018.10:51058222:C:T p.(Gln256Ter) NC_000018.10:51058222:C:T Identity +NM_000068.4:c.5426A>C NP_000059.3:p.Asn1809Thr NC_000019.10:13230201:T:G p.(Asn1809Thr) NC_000019.10:13230201:T:G p.(Asn1809Thr) NC_000019.10:13230201:T:G Identity +NM_000245.4:c.3415G>T NP_000236.2:p.Val1139Phe NC_000007.14:116778849:G:T p.(Val1139Phe) NC_000007.14:116778849:G:T p.(Val1139Phe) NC_000007.14:116778849:G:T Identity +NM_001354723.2:c.526T>C NP_001341652.1:p.Cys176Arg NC_000003.12:10142947:T:C p.(Cys176Arg) NC_000003.12:10142947:T:C p.(Cys176Arg) NC_000003.12:10142947:T:C Identity +NM_001410908.1:c.2557A>G NP_001397837.1:p.Lys853Glu NC_000007.14:105105963:A:G p.(Lys853Glu) NC_000007.14:105105963:A:G p.(Lys853Glu) NC_000007.14:105105963:A:G Identity +NM_000548.5:c.269A>T NP_000539.2:p.Gln90Leu NC_000016.10:2053384:A:T p.(Gln90Leu) NC_000016.10:2053384:A:T p.(Gln90Leu) NC_000016.10:2053384:A:T Identity +NM_001365819.1:c.3809C>T NP_001352748.1:p.Ser1270Leu NC_000022.11:50459274:G:A p.(Ser1270Leu) NC_000022.11:50459274:G:A p.(Ser1270Leu) NC_000022.11:50459274:G:A Identity +NM_001363656.2:c.1145A>C NP_001350585.1:p.Lys382Thr NC_000019.10:52225736:A:C p.(Lys382Thr) NC_000019.10:52225736:A:C p.(Lys382Thr) NC_000019.10:52225736:A:C Identity +NM_001190818.2:c.117A>C NP_001177747.1:p.Glu39Asp NC_000001.11:52401467:T:G p.(Glu39Asp) NC_000001.11:52401467:T:G p.(Glu39Asp) NC_000001.11:52401467:T:G Identity +NM_000188.3:c.1163C>T NP_000179.2:p.Ala388Val NC_000010.11:69379992:C:T p.(Ala388Val) NC_000010.11:69379992:C:T p.(Ala388Val) NC_000010.11:69379992:C:T Identity +NM_001244189.2:c.1532C>A NP_001231118.1:p.Ser511Tyr NC_000014.9:58457768:C:A p.(Ser511Tyr) NC_000014.9:58457768:C:A p.(Ser511Tyr) NC_000014.9:58457768:C:A Identity +NM_001164665.2:c.2464G>A NP_001158137.1:p.Val822Met NC_000007.14:138917161:C:T p.(Val822Met) NC_000007.14:138917161:C:T p.(Val822Met) NC_000007.14:138917161:C:T Identity +NM_014053.4:c.83G>A NP_054772.1:p.Gly28Asp NC_000001.11:212858534:G:A p.(Gly28Asp) NC_000001.11:212858534:G:A p.(Gly28Asp) NC_000001.11:212858534:G:A Identity +NM_007374.3:c.257_261del NP_031400.2:p.Lys86fs NC_000014.9:60509654:AGCTG: p.(Lys86ThrfsTer6) NC_000014.9:60509654:AGCTG: p.(Lys86ThrfsTer6) NC_000014.9:60509654:AGCTG: Analogous +NM_003184.4:c.3461A>C NP_003175.2:p.His1154Pro NC_000008.11:119732062:T:G p.(His1154Pro) NC_000008.11:119732062:T:G p.(His1154Pro) NC_000008.11:119732062:T:G Identity +NM_001193307.2:c.922G>A NP_001180236.1:p.Asp308Asn NC_000007.14:93105175:C:T p.(Asp308Asn) NC_000007.14:93105175:C:T p.(Asp308Asn) NC_000007.14:93105175:C:T Identity +NM_000109.4:c.1061T>C NP_000100.3:p.Leu354Ser NC_000023.11:32645027:A:G p.(Leu354Ser) NC_000023.11:32645027:A:G p.(Leu354Ser) NC_000023.11:32645027:A:G Identity +NM_001110792.2:c.589G>T NP_001104262.1:p.Gly197Cys NC_000023.11:154031274:C:A p.(Gly197Cys) NC_000023.11:154031274:C:A p.(Gly197Cys) NC_000023.11:154031274:C:A Identity +NM_001251987.2:c.296C>G NP_001238916.1:p.Thr99Ser NC_000006.12:123548548:G:C p.(Thr99Ser) NC_000006.12:123548548:G:C p.(Thr99Ser) NC_000006.12:123548548:G:C Identity +NM_004974.4:c.900A>C NP_004965.1:p.Arg300Ser NC_000001.11:110603882:T:G p.(Arg300Ser) NC_000001.11:110603882:T:G p.(Arg300Ser) NC_000001.11:110603882:T:G Identity +NM_182493.3:c.929C>T NP_872299.2:p.Pro310Leu NC_000016.10:46737782:G:A p.(Pro310Leu) NC_000016.10:46737782:G:A p.(Pro310Leu) NC_000016.10:46737782:G:A Identity +NM_000548.5:c.1817del NP_000539.2:p.Ile606fs NC_000016.10:2070555:T: p.(Ile606ThrfsTer92) NC_000016.10:2070555:T: p.(Ile606ThrfsTer92) NC_000016.10:2070555:T: Analogous +NM_000152.5:c.1968G>C NP_000143.2:p.Glu656Asp NC_000017.11:80112954:G:C p.(Glu656Asp) NC_000017.11:80112954:G:C p.(Glu656Asp) NC_000017.11:80112954:G:C Identity +NM_001357321.2:c.687G>A NP_001344250.1:p.Trp229Ter NC_000002.12:43852478:G:A p.(Trp229Ter) NC_000002.12:43852478:G:A p.(Trp229Ter) NC_000002.12:43852478:G:A Identity +NM_001164507.2:c.22229del NP_001157979.2:p.Pro7410fs NC_000002.12:151525205:GG:G p.(Pro7410GlnfsTer3) NC_000002.12:151525205:GG:G p.(Pro7410GlnfsTer3) NC_000002.12:151525205:G: Analogous +NM_001252127.2:c.472A>T NP_001239056.1:p.Ile158Phe NC_000015.10:50929162:A:T p.(Ile158Phe) NC_000015.10:50929162:A:T p.(Ile158Phe) NC_000015.10:50929162:A:T Identity +NM_139058.3:c.893A>T NP_620689.1:p.His298Leu NC_000023.11:25013101:T:A p.(His298Leu) NC_000023.11:25013101:T:A p.(His298Leu) NC_000023.11:25013101:T:A Identity +NM_001018037.2:c.5450T>A NP_001018047.1:p.Leu1817Ter NC_000009.12:77321319:T:A p.(Leu1817Ter) NC_000009.12:77321319:T:A p.(Leu1817Ter) NC_000009.12:77321319:T:A Identity +NM_001411067.1:c.3265T>A NP_001397996.1:p.Ser1089Thr NC_000017.11:8228520:A:T p.(Ser1089Thr) NC_000017.11:8228520:A:T p.(Ser1089Thr) NC_000017.11:8228520:A:T Identity +NM_001377289.1:c.418G>A NP_001364218.1:p.Asp140Asn NC_000006.12:70270363:C:T p.(Asp140Asn) NC_000006.12:70270363:C:T p.(Asp140Asn) NC_000006.12:70270363:C:T Identity +NM_001353229.2:c.1388C>G NP_001340158.1:p.Ala463Gly NC_000017.11:17215282:G:C p.(Ala463Gly) NC_000017.11:17215282:G:C p.(Ala463Gly) NC_000017.11:17215282:G:C Identity +NM_025132.4:c.388C>G NP_079408.3:p.Arg130Gly NC_000004.12:39194640:C:G p.(Arg130Gly) NC_000004.12:39194640:C:G p.(Arg130Gly) NC_000004.12:39194640:C:G Identity +NM_001690.4:c.220T>G NP_001681.2:p.Ser74Ala NC_000003.12:113784231:T:G p.(Ser74Ala) NC_000003.12:113784231:T:G p.(Ser74Ala) NC_000003.12:113784231:T:G Identity +NM_005585.5:c.557G>A NP_005576.3:p.Arg186His NC_000015.10:66703814:G:A p.(Arg186His) NC_000015.10:66703814:G:A p.(Arg186His) NC_000015.10:66703814:G:A Identity +NM_001083962.2:c.2004G>A NP_001077431.1:p.Met668Ile NC_000018.10:55228236:C:T p.(Met668Ile) NC_000018.10:55228236:C:T p.(Met668Ile) NC_000018.10:55228236:C:T Identity +NM_000784.4:c.1550T>C NP_000775.1:p.Val517Ala NC_000002.12:218814983:T:C p.(Val517Ala) NC_000002.12:218814983:T:C p.(Val517Ala) NC_000002.12:218814983:T:C Identity +NM_001130455.2:c.1011_1012del NP_001123927.1:p.Leu338fs NC_000002.12:71520858:CC: p.(Leu338GlufsTer22) NC_000002.12:71520858:CC: p.(Leu338GlufsTer22) NC_000002.12:71520858:CC: Analogous +NM_032888.4:c.4946G>C NP_116277.2:p.Ser1649Thr NC_000009.12:114306526:G:C p.(Ser1649Thr) NC_000009.12:114306526:G:C p.(Ser1649Thr) NC_000009.12:114306526:G:C Identity +NM_002299.4:c.3518G>T NP_002290.2:p.Gly1173Val NC_000002.12:135808828:C:A p.(Gly1173Val) NC_000002.12:135808828:C:A p.(Gly1173Val) NC_000002.12:135808828:C:A Identity +NM_170606.3:c.9751A>G NP_733751.2:p.Ile3251Val NC_000007.14:152163825:T:C p.(Ile3251Val) NC_000007.14:152163825:T:C p.(Ile3251Val) NC_000007.14:152163825:T:C Identity +NM_001163817.2:c.415G>C NP_001157289.1:p.Val139Leu NC_000011.10:71441437:C:G p.(Val139Leu) NC_000011.10:71441437:C:G p.(Val139Leu) NC_000011.10:71441437:C:G Identity +NM_001139490.1:c.802G>T NP_001132962.1:p.Glu268Ter NC_000002.12:238329228:G:T p.(Glu268Ter) NC_000002.12:238329228:G:T p.(Glu268Ter) NC_000002.12:238329228:G:T Identity +NM_001177716.2:c.377C>T NP_001171187.1:p.Ala126Val NC_000002.12:10047764:C:T p.(Ala126Val) NC_000002.12:10047764:C:T p.(Ala126Val) NC_000002.12:10047764:C:T Identity +NM_205850.3:c.1309G>A NP_995322.1:p.Gly437Arg NC_000015.10:48142156:G:A p.(Gly437Arg) NC_000015.10:48142156:G:A p.(Gly437Arg) NC_000015.10:48142156:G:A Identity +NM_000495.5:c.3400G>A NP_000486.1:p.Gly1134Ser NC_000023.11:108665532:G:A p.(Gly1134Ser) NC_000023.11:108665532:G:A p.(Gly1134Ser) NC_000023.11:108665532:G:A Identity +NM_001195794.1:c.236G>A NP_001182723.1:p.Arg79Lys NC_000003.12:150972472:C:T p.(Arg79Lys) NC_000003.12:150972472:C:T p.(Arg79Lys) NC_000003.12:150972472:C:T Identity +NM_001002269.2:c.311C>A NP_001002269.1:p.Ser104Tyr NC_000009.12:37784733:G:T p.(Ser104Tyr) NC_000009.12:37784733:G:T p.(Ser104Tyr) NC_000009.12:37784733:G:T Identity +NM_031935.3:c.10342C>T NP_114141.2:p.Leu3448Phe NC_000001.11:186095289:C:T p.(Leu3448Phe) NC_000001.11:186095289:C:T p.(Leu3448Phe) NC_000001.11:186095289:C:T Identity +NM_207361.6:c.6416G>A NP_997244.4:p.Gly2139Asp NC_000013.11:38850073:G:A p.(Gly2139Asp) NC_000013.11:38850073:G:A p.(Gly2139Asp) NC_000013.11:38850073:G:A Identity +NM_001165962.2:c.1879A>G NP_001159434.1:p.Thr627Ala NC_000017.11:12994793:T:C p.(Thr627Ala) NC_000017.11:12994793:T:C p.(Thr627Ala) NC_000017.11:12994793:T:C Identity +NM_001013840.1:c.1260dup NP_001013862.1:p.Thr421Aspfs NC_000010.11:95683192:C:CC ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found +NM_015512.5:c.2645A>G NP_056327.4:p.Glu882Gly NC_000003.12:52350106:A:G p.(Glu882Gly) NC_000003.12:52350106:A:G p.(Glu882Gly) NC_000003.12:52350106:A:G Identity +NM_000293.3:c.2261A>C NP_000284.1:p.Asn754Thr NC_000016.10:47661782:A:C p.(Asn754Thr) NC_000016.10:47661782:A:C p.(Asn754Thr) NC_000016.10:47661782:A:C Identity +NM_013432.5:c.13C>T NP_038460.4:p.Arg5Cys NC_000008.11:144444401:G:A p.(Arg5Cys) NC_000008.11:144444401:G:A p.(Arg5Cys) NC_000008.11:144444401:G:A Identity +NM_015072.5:c.3780C>A NP_055887.3:p.Ser1260Arg NC_000014.9:75902180:C:A p.(Ser1260Arg) NC_000014.9:75902180:C:A p.(Ser1260Arg) NC_000014.9:75902180:C:A Identity +NM_002796.3:c.127A>G NP_002787.2:p.Ile43Val NC_000001.11:151399713:A:G p.(Ile43Val) NC_000001.11:151399713:A:G p.(Ile43Val) NC_000001.11:151399713:A:G Identity +NM_001378923.1:c.664C>T NP_001365852.1:p.Arg222Cys NC_000009.12:35793071:C:T p.(Arg222Cys) NC_000009.12:35793071:C:T p.(Arg222Cys) NC_000009.12:35793071:C:T Identity +NM_001321269.2:c.449A>T NP_001308198.1:p.Glu150Val NC_000017.11:58214806:T:A p.(Glu150Val) NC_000017.11:58214806:T:A p.(Glu150Val) NC_000017.11:58214806:T:A Identity +NM_002890.3:c.50G>T NP_002881.1:p.Gly17Val NC_000005.10:87268500:G:T p.(Gly17Val) NC_000005.10:87268500:G:T p.(Gly17Val) NC_000005.10:87268500:G:T Identity +NM_001163435.3:c.2336A>T NP_001156907.2:p.His779Leu NC_000004.12:106116277:T:A p.(His779Leu) NC_000004.12:106116277:T:A p.(His779Leu) NC_000004.12:106116277:T:A Identity +NM_000520.6:c.1467G>C NP_000511.2:p.Leu489Phe NC_000015.10:72345504:C:G p.(Leu489Phe) NC_000015.10:72345504:C:G p.(Leu489Phe) NC_000015.10:72345504:C:G Identity +NM_000587.4:c.2162G>A NP_000578.2:p.Cys721Tyr NC_000005.10:40976836:G:A p.(Cys721Tyr) NC_000005.10:40976836:G:A p.(Cys721Tyr) NC_000005.10:40976836:G:A Identity +NM_001197330.2:c.627T>A NP_001184259.1:p.Phe209Leu NC_000014.9:49663364:A:T p.(Phe209Leu) NC_000014.9:49663364:A:T p.(Phe209Leu) NC_000014.9:49663364:A:T Identity +NM_001040142.2:c.5819G>A NP_001035232.1:p.Cys1940Tyr NC_000002.12:165389624:G:A p.(Cys1940Tyr) NC_000002.12:165389624:G:A p.(Cys1940Tyr) NC_000002.12:165389624:G:A Identity +NM_003737.4:c.7333T>C NP_003728.1:p.Ser2445Pro NC_000011.10:6624342:A:G p.(Ser2445Pro) NC_000011.10:6624342:A:G p.(Ser2445Pro) NC_000011.10:6624342:A:G Identity +NM_030665.4:c.3488C>T NP_109590.3:p.Pro1163Leu NC_000017.11:17796435:C:T p.(Pro1163Leu) NC_000017.11:17796435:C:T p.(Pro1163Leu) NC_000017.11:17796435:C:T Identity +NM_001377273.1:c.1166C>T NP_001364202.1:p.Ala389Val NC_000012.12:21910310:G:A p.(Ala389Val) NC_000012.12:21910310:G:A p.(Ala389Val) NC_000012.12:21910310:G:A Identity +NM_000350.3:c.2011G>A NP_000341.2:p.Val671Met NC_000001.11:94060685:C:T p.(Val671Met) NC_000001.11:94060685:C:T p.(Val671Met) NC_000001.11:94060685:C:T Identity +NM_020461.4:c.1070T>C NP_065194.3:p.Leu357Pro NC_000022.11:50233361:A:G p.(Leu357Pro) NC_000022.11:50233361:A:G p.(Leu357Pro) NC_000022.11:50233361:A:G Identity +NM_001371986.1:c.7856A>T NP_001358915.1:p.Gln2619Leu NC_000002.12:209967486:A:T p.(Gln2619Leu) NC_000002.12:209967486:A:T p.(Gln2619Leu) NC_000002.12:209967486:A:T Identity +NM_001128608.2:c.841A>G NP_001122080.1:p.Thr281Ala NC_000015.10:41813623:A:G p.(Thr281Ala) NC_000015.10:41813623:A:G p.(Thr281Ala) NC_000015.10:41813623:A:G Identity +NM_001199777.2:c.1148C>T NP_001186706.1:p.Pro383Leu NC_000012.12:89425218:G:A p.(Pro383Leu) NC_000012.12:89425218:G:A p.(Pro383Leu) NC_000012.12:89425218:G:A Identity +NM_004281.4:c.479C>T NP_004272.2:p.Ala160Val NC_000010.11:119670148:C:T p.(Ala160Val) NC_000010.11:119670148:C:T p.(Ala160Val) NC_000010.11:119670148:C:T Identity +NM_000109.4:c.7207A>T NP_000100.3:p.Lys2403Ter NC_000023.11:31820052:T:A p.(Lys2403Ter) NC_000023.11:31820052:T:A p.(Lys2403Ter) NC_000023.11:31820052:T:A Identity +NM_001271.4:c.3106G>T NP_001262.3:p.Glu1036Ter NC_000015.10:92984368:G:T p.(Glu1036Ter) NC_000015.10:92984368:G:T p.(Glu1036Ter) NC_000015.10:92984368:G:T Identity +NM_001347828.2:c.3070A>G NP_001334757.1:p.Lys1024Glu NC_000004.12:54290426:A:G p.(Lys1024Glu) NC_000004.12:54290426:A:G p.(Lys1024Glu) NC_000004.12:54290426:A:G Identity +NM_032043.3:c.2387T>C NP_114432.2:p.Leu796Pro NC_000017.11:61716055:A:G p.(Leu796Pro) NC_000017.11:61716055:A:G p.(Leu796Pro) NC_000017.11:61716055:A:G Identity +NM_000068.4:c.2771C>T NP_000059.3:p.Ala924Val NC_000019.10:13298873:G:A p.(Ala924Val) NC_000019.10:13298873:G:A p.(Ala924Val) NC_000019.10:13298873:G:A Identity +NM_001385640.1:c.1886C>A NP_001372569.1:p.Pro629His NC_000001.11:942887:C:A p.(Pro629His) NC_000001.11:942887:C:A p.(Pro629His) NC_000001.11:942887:C:A Identity +NM_000368.5:c.1297C>A NP_000359.1:p.His433Asn NC_000009.12:132907336:G:T p.(His433Asn) NC_000009.12:132907336:G:T p.(His433Asn) NC_000009.12:132907336:G:T Identity +NM_001039590.3:c.656G>T NP_001034679.2:p.Gly219Val NC_000023.11:41140656:G:T p.(Gly219Val) NC_000023.11:41140656:G:T p.(Gly219Val) NC_000023.11:41140656:G:T Identity +NM_013432.5:c.2464G>T NP_038460.4:p.Ala822Ser NC_000008.11:144435968:C:A p.(Ala822Ser) NC_000008.11:144435968:C:A p.(Ala822Ser) NC_000008.11:144435968:C:A Identity +NM_016580.4:c.3400G>C NP_057664.1:p.Glu1134Gln NC_000005.10:141945535:C:G p.(Glu1134Gln) NC_000005.10:141945535:C:G p.(Glu1134Gln) NC_000005.10:141945535:C:G Identity +NM_001102406.2:c.3605A>G NP_001095876.1:p.Gln1202Arg NC_000004.12:112440982:A:G p.(Gln1202Arg) NC_000004.12:112440982:A:G p.(Gln1202Arg) NC_000004.12:112440982:A:G Identity +NM_000833.5:c.1520T>C NP_000824.1:p.Met507Thr NC_000016.10:9840777:A:G p.(Met507Thr) NC_000016.10:9840777:A:G p.(Met507Thr) NC_000016.10:9840777:A:G Identity +NM_138348.6:c.152A>C NP_612357.4:p.His51Pro NC_000005.10:14664976:A:C p.(His51Pro) NC_000005.10:14664976:A:C p.(His51Pro) NC_000005.10:14664976:A:C Identity +NM_020381.4:c.635T>C NP_065114.3:p.Val212Ala NC_000006.12:107245614:A:G p.(Val212Ala) NC_000006.12:107245614:A:G p.(Val212Ala) NC_000006.12:107245614:A:G Identity +NM_001288951.2:c.1211A>C NP_001275880.1:p.Glu404Ala NC_000002.12:47006647:A:C p.(Glu404Ala) NC_000002.12:47006647:A:C p.(Glu404Ala) NC_000002.12:47006647:A:C Identity +NM_004949.5:c.254T>C NP_004940.1:p.Ile85Thr NC_000018.10:31092200:A:G p.(Ile85Thr) NC_000018.10:31092200:A:G p.(Ile85Thr) NC_000018.10:31092200:A:G Identity +NM_001012509.4:c.473_474delinsCT NP_001012527.2:p.Phe158Ser NC_000005.10:33982323:GA:AG p.(Phe158Ser) NC_000005.10:33982323:GA:AG p.(Phe158Ser) NC_000005.10:33982323:GA:AG Identity +NM_001145847.2:c.743A>G NP_001139319.1:p.Lys248Arg NC_000004.12:16023339:T:C p.(Lys248Arg) NC_000004.12:16023339:T:C p.(Lys248Arg) NC_000004.12:16023339:T:C Identity +NM_004525.3:c.1328C>T NP_004516.2:p.Thr443Ile NC_000002.12:169280362:G:A p.(Thr443Ile) NC_000002.12:169280362:G:A p.(Thr443Ile) NC_000002.12:169280362:G:A Identity +NM_001031847.3:c.1775C>T NP_001027017.1:p.Ser592Phe NC_000011.10:68762726:G:A p.(Ser592Phe) NC_000011.10:68762726:G:A p.(Ser592Phe) NC_000011.10:68762726:G:A Identity +NM_016247.4:c.2135T>G NP_057331.2:p.Val712Gly NC_000003.12:101244195:A:C p.(Val712Gly) NC_000003.12:101244195:A:C p.(Val712Gly) NC_000003.12:101244195:A:C Identity +NM_001164507.2:c.10026_10027insTG NP_001157979.2:p.Lys3343Ter NC_000002.12:151627639:C:CAC p.(Lys3343Ter) NC_000002.12:151627638:T:CA p.(Lys3343Ter) NC_000002.12:151627639:TC:CA Identity +NM_004949.5:c.155T>A NP_004940.1:p.Val52Asp NC_000018.10:31092299:A:T p.(Val52Asp) NC_000018.10:31092299:A:T p.(Val52Asp) NC_000018.10:31092299:A:T Identity +NM_000843.4:c.299C>T NP_000834.2:p.Ser100Leu NC_000005.10:178994645:G:A p.(Ser100Leu) NC_000005.10:178994645:G:A p.(Ser100Leu) NC_000005.10:178994645:G:A Identity +NM_000335.5:c.5541C>G NP_000326.2:p.Ile1847Met NC_000003.12:38550827:G:C p.(Ile1847Met) NC_000003.12:38550827:G:C p.(Ile1847Met) NC_000003.12:38550827:G:C Identity +NM_139318.5:c.2936C>T NP_647479.2:p.Pro979Leu NC_000014.9:62707538:G:A p.(Pro979Leu) NC_000014.9:62707538:G:A p.(Pro979Leu) NC_000014.9:62707538:G:A Identity +NM_001135649.3:c.236C>A NP_001129121.1:p.Pro79Gln NC_000002.12:88452299:G:T p.(Pro79Gln) NC_000002.12:88452299:G:T p.(Pro79Gln) NC_000002.12:88452299:G:T Identity +NM_016213.5:c.472C>T NP_057297.2:p.Gln158Ter NC_000015.10:64397671:C:T p.(Gln158Ter) NC_000015.10:64397671:C:T p.(Gln158Ter) NC_000015.10:64397671:C:T Identity +NM_000092.5:c.3961del NP_000083.3:p.Asp1321fs NC_000002.12:227030454:C: p.(Asp1321MetfsTer67) NC_000002.12:227030454:C: p.(Asp1321MetfsTer67) NC_000002.12:227030454:C: Analogous +NM_001257158.2:c.546T>G NP_001244087.1:p.Asp182Glu NC_000007.14:130402675:A:C p.(Asp182Glu) NC_000007.14:130402675:A:C p.(Asp182Glu) NC_000007.14:130402675:A:C Identity +NM_006929.5:c.509G>A NP_008860.4:p.Arg170Gln NC_000006.12:31960704:G:A p.(Arg170Gln) NC_000006.12:31960704:G:A p.(Arg170Gln) NC_000006.12:31960704:G:A Identity +NM_001304763.2:c.2797A>T NP_001291692.1:p.Ser933Cys NC_000001.11:151289839:A:T p.(Ser933Cys) NC_000001.11:151289839:A:T p.(Ser933Cys) NC_000001.11:151289839:A:T Identity +NM_001734.5:c.230C>T NP_001725.1:p.Thr77Ile NC_000012.12:7062905:C:T p.(Thr77Ile) NC_000012.12:7062905:C:T p.(Thr77Ile) NC_000012.12:7062905:C:T Identity +NM_012281.3:c.338C>G NP_036413.1:p.Ser113Cys NC_000007.14:120274969:C:G p.(Ser113Cys) NC_000007.14:120274969:C:G p.(Ser113Cys) NC_000007.14:120274969:C:G Identity +NM_001201484.2:c.1694C>T NP_001188413.1:p.Ala565Val NC_000009.12:35090189:G:A p.(Ala565Val) NC_000009.12:35090189:G:A p.(Ala565Val) NC_000009.12:35090189:G:A Identity +NM_000719.7:c.3410A>G NP_000710.5:p.Asn1137Ser NC_000012.12:2608563:A:G p.(Asn1137Ser) NC_000012.12:2608563:A:G p.(Asn1137Ser) NC_000012.12:2608563:A:G Identity +NM_001029882.3:c.956C>T NP_001025053.1:p.Thr319Ile NC_000001.11:27551159:G:A p.(Thr319Ile) NC_000001.11:27551159:G:A p.(Thr319Ile) NC_000001.11:27551159:G:A Identity +NM_000489.6:c.3112G>A NP_000480.3:p.Gly1038Arg NC_000023.11:77682143:C:T p.(Gly1038Arg) NC_000023.11:77682143:C:T p.(Gly1038Arg) NC_000023.11:77682143:C:T Identity +NM_001005360.3:c.2555C>G NP_001005360.1:p.Pro852Arg NC_000019.10:10830988:C:G p.(Pro852Arg) NC_000019.10:10830988:C:G p.(Pro852Arg) NC_000019.10:10830988:C:G Identity +NM_001001563.5:c.86C>T NP_001001563.2:p.Pro29Leu NC_000019.10:39480938:C:T p.(Pro29Leu) NC_000019.10:39480938:C:T p.(Pro29Leu) NC_000019.10:39480938:C:T Identity +NM_001126336.3:c.541A>G NP_001119808.1:p.Thr181Ala NC_000005.10:83493640:A:G p.(Thr181Ala) NC_000005.10:83493640:A:G p.(Thr181Ala) NC_000005.10:83493640:A:G Identity +NM_000118.4:c.410A>G NP_000109.1:p.Glu137Gly NC_000009.12:127826622:T:C p.(Glu137Gly) NC_000009.12:127826622:T:C p.(Glu137Gly) NC_000009.12:127826622:T:C Identity +NM_015384.5:c.4335T>A NP_056199.2:p.Tyr1445Ter NC_000005.10:37008636:T:A p.(Tyr1445Ter) NC_000005.10:37008636:T:A p.(Tyr1445Ter) NC_000005.10:37008636:T:A Identity +NM_001355530.2:c.425C>T NP_001342459.1:p.Ala142Val NC_000007.14:105565573:G:A p.(Ala142Val) NC_000007.14:105565573:G:A p.(Ala142Val) NC_000007.14:105565573:G:A Identity +NM_001080114.2:c.211T>G NP_001073583.1:p.Ser71Ala NC_000010.11:86679483:T:G p.(Ser71Ala) NC_000010.11:86679483:T:G p.(Ser71Ala) NC_000010.11:86679483:T:G Identity +NM_014141.6:c.742A>C NP_054860.1:p.Ser248Arg NC_000007.14:147108337:A:C p.(Ser248Arg) NC_000007.14:147108337:A:C p.(Ser248Arg) NC_000007.14:147108337:A:C Identity +NM_000138.5:c.5244T>G NP_000129.3:p.Cys1748Trp NC_000015.10:48460297:A:C p.(Cys1748Trp) NC_000015.10:48460297:A:C p.(Cys1748Trp) NC_000015.10:48460297:A:C Identity +NM_000222.3:c.2645T>C NP_000213.1:p.Met882Thr NC_000004.12:54736768:T:C p.(Met882Thr) NC_000004.12:54736768:T:C p.(Met882Thr) NC_000004.12:54736768:T:C Identity +NM_001271933.2:c.2336G>C NP_001258862.1:p.Arg779Pro NC_000011.10:117392268:G:C p.(Arg779Pro) NC_000011.10:117392268:G:C p.(Arg779Pro) NC_000011.10:117392268:G:C Identity +NM_001040142.2:c.3155G>A NP_001035232.1:p.Cys1052Tyr NC_000002.12:165354426:G:A p.(Cys1052Tyr) NC_000002.12:165354426:G:A p.(Cys1052Tyr) NC_000002.12:165354426:G:A Identity +NM_000076.2:c.757_760dup NP_000067.1:p.Thr254fs NC_000011.10:2884729:TGCC:TGCCTGCC p.(Thr254ArgfsTer33) NC_000011.10:2884729:TGCC:TGCCTGCC p.(Thr254ArgfsTer33) ERR:SPDI Analogous +NM_001377498.1:c.230A>G NP_001364427.1:p.Asp77Gly NC_000002.12:219157631:T:C p.(Asp77Gly) NC_000002.12:219157631:T:C p.(Asp77Gly) NC_000002.12:219157631:T:C Identity +NM_005216.5:c.68T>G NP_005207.3:p.Val23Gly NC_000001.11:20661282:A:C p.(Val23Gly) NC_000001.11:20661282:A:C p.(Val23Gly) NC_000001.11:20661282:A:C Identity +NM_001306079.2:c.2147C>G NP_001293008.1:p.Ala716Gly NC_000002.12:27231515:C:G p.(Ala716Gly) NC_000002.12:27231515:C:G p.(Ala716Gly) NC_000002.12:27231515:C:G Identity +NM_001130518.2:c.229C>T NP_001123990.1:p.Arg77Trp NC_000008.11:19505605:G:A p.(Arg77Trp) NC_000008.11:19505605:G:A p.(Arg77Trp) NC_000008.11:19505605:G:A Identity +NM_001164508.2:c.21348A>T NP_001157980.2:p.Gln7116His NC_000002.12:151533510:T:A p.(Gln7116His) NC_000002.12:151533510:T:A p.(Gln7116His) NC_000002.12:151533510:T:A Identity +NM_001004334.4:c.6952C>A NP_001004334.3:p.Leu2318Ile NC_000017.11:38326616:G:T p.(Leu2318Ile) NC_000017.11:38326616:G:T p.(Leu2318Ile) NC_000017.11:38326616:G:T Identity +NM_001010895.4:c.648G>T NP_001010895.2:p.Leu216Phe NC_000009.12:95907130:G:T p.(Leu216Phe) NC_000009.12:95907130:G:T p.(Leu216Phe) NC_000009.12:95907130:G:T Identity +NM_001105206.3:c.3763G>A NP_001098676.2:p.Asp1255Asn NC_000006.12:112132823:C:T p.(Asp1255Asn) NC_000006.12:112132823:C:T p.(Asp1255Asn) NC_000006.12:112132823:C:T Identity +NM_001134418.2:c.517G>T NP_001127890.1:p.Asp173Tyr NC_000003.12:189987564:C:A p.(Asp173Tyr) NC_000003.12:189987564:C:A p.(Asp173Tyr) NC_000003.12:189987564:C:A Identity +NM_001127505.3:c.992C>T NP_001120977.1:p.Ala331Val NC_000008.11:18059371:G:A p.(Ala331Val) NC_000008.11:18059371:G:A p.(Ala331Val) NC_000008.11:18059371:G:A Identity +NM_001193465.2:c.3299G>A NP_001180394.1:p.Arg1100His NC_000017.11:46031491:C:T p.(Arg1100His) NC_000017.11:46031491:C:T p.(Arg1100His) NC_000017.11:46031491:C:T Identity +NM_000052.7:c.737A>T NP_000043.4:p.Lys246Ile NC_000023.11:77989358:A:T p.(Lys246Ile) NC_000023.11:77989358:A:T p.(Lys246Ile) NC_000023.11:77989358:A:T Identity +NM_000109.4:c.7618A>G NP_000100.3:p.Thr2540Ala NC_000023.11:31729648:T:C p.(Thr2540Ala) NC_000023.11:31729648:T:C p.(Thr2540Ala) NC_000023.11:31729648:T:C Identity +NM_001414244.1:c.1605A>G NP_001401173.1:p.Ile535Met NC_000012.12:12165235:T:C p.(Ile535Met) NC_000012.12:12165235:T:C p.(Ile535Met) NC_000012.12:12165235:T:C Identity +NM_001199397.3:c.2125A>G NP_001186326.1:p.Lys709Glu NC_000004.12:169479416:T:C p.(Lys709Glu) NC_000004.12:169479416:T:C p.(Lys709Glu) NC_000004.12:169479416:T:C Identity +NM_001098426.2:c.1374_1375del NP_001091896.1:p.Ser459fs NC_000017.11:63833362:TG: p.(Ser459PhefsTer2) NC_000017.11:63833362:TG: p.(Ser459PhefsTer2) NC_000017.11:63833362:TG: Analogous +NM_000245.4:c.3661_3662delinsAT NP_000236.2:p.Ala1221Ile NC_000007.14:116783331:GC:AT p.(Ala1221Ile) NC_000007.14:116783331:GC:AT p.(Ala1221Ile) NC_000007.14:116783331:GC:AT Identity +NM_000028.3:c.3869G>A NP_000019.2:p.Ser1290Asn NC_000001.11:99912436:G:A p.(Ser1290Asn) NC_000001.11:99912436:G:A p.(Ser1290Asn) NC_000001.11:99912436:G:A Identity +NM_001135940.2:c.865dup NP_001129412.1:p.Val289fs NC_000005.10:137887304:G:GG p.(Val289GlyfsTer6) NC_000005.10:137887304:G:GG p.(Val289GlyfsTer6) ERR:SPDI Analogous +NM_016562.4:c.2156C>T NP_057646.1:p.Ser719Phe NC_000023.11:12887663:C:T p.(Ser719Phe) NC_000023.11:12887663:C:T p.(Ser719Phe) NC_000023.11:12887663:C:T Identity +NM_002900.3:c.3195G>C NP_002891.1:p.Glu1065Asp NC_000010.11:47353464:G:C p.(Glu1065Asp) NC_000010.11:47353464:G:C p.(Glu1065Asp) NC_000010.11:47353464:G:C Identity +NM_000520.6:c.1108T>A NP_000511.2:p.Tyr370Asn NC_000015.10:72347723:A:T p.(Tyr370Asn) NC_000015.10:72347723:A:T p.(Tyr370Asn) NC_000015.10:72347723:A:T Identity +NM_000027.4:c.292G>T NP_000018.2:p.Asp98Tyr NC_000004.12:177439677:C:A p.(Asp98Tyr) NC_000004.12:177439677:C:A p.(Asp98Tyr) NC_000004.12:177439677:C:A Identity +NM_001466.4:c.911T>C NP_001457.1:p.Val304Ala NC_000017.11:44558598:T:C p.(Val304Ala) NC_000017.11:44558598:T:C p.(Val304Ala) NC_000017.11:44558598:T:C Identity +NM_001367624.2:c.7132G>A NP_001354553.1:p.Glu2378Lys NC_000016.10:88434601:G:A p.(Glu2378Lys) NC_000016.10:88434601:G:A p.(Glu2378Lys) NC_000016.10:88434601:G:A Identity +NM_001367624.2:c.11578A>G NP_001354553.1:p.Thr3860Ala NC_000016.10:88439047:A:G p.(Thr3860Ala) NC_000016.10:88439047:A:G p.(Thr3860Ala) NC_000016.10:88439047:A:G Identity +NM_001413017.1:c.2419C>G NP_001399946.1:p.Pro807Ala NC_000008.11:144512888:G:C p.(Pro807Ala) NC_000008.11:144512888:G:C p.(Pro807Ala) NC_000008.11:144512888:G:C Identity +NM_002439.5:c.1890C>G NP_002430.3:p.His630Gln NC_000005.10:80761671:C:G p.(His630Gln) NC_000005.10:80761671:C:G p.(His630Gln) NC_000005.10:80761671:C:G Identity +NM_030916.3:c.614C>T NP_112178.2:p.Thr205Ile NC_000001.11:161077568:G:A p.(Thr205Ile) NC_000001.11:161077568:G:A p.(Thr205Ile) NC_000001.11:161077568:G:A Identity +NM_001278268.2:c.1189A>G NP_001265197.1:p.Thr397Ala NC_000018.10:62369147:A:G p.(Thr397Ala) NC_000018.10:62369147:A:G p.(Thr397Ala) NC_000018.10:62369147:A:G Identity +NM_001363734.1:c.2147A>T NP_001350663.1:p.Glu716Val NC_000020.11:32435041:A:T p.(Glu716Val) NC_000020.11:32435041:A:T p.(Glu716Val) NC_000020.11:32435041:A:T Identity +NM_000546.6:c.725_726delinsCA NP_000537.3:p.Cys242Ser NC_000017.11:7674236:GC:TG p.(Cys242Ser) NC_000017.11:7674236:GC:TG p.(Cys242Ser) NC_000017.11:7674236:GC:TG Identity +NM_003924.4:c.581G>A NP_003915.2:p.Ser194Asn NC_000004.12:41746170:C:T p.(Ser194Asn) NC_000004.12:41746170:C:T p.(Ser194Asn) NC_000004.12:41746170:C:T Identity +NM_001167.4:c.1099G>A NP_001158.2:p.Asp367Asn NC_000023.11:123892772:G:A p.(Asp367Asn) NC_000023.11:123892772:G:A p.(Asp367Asn) NC_000023.11:123892772:G:A Identity +NM_001135597.2:c.2131del NP_001129069.1:p.Glu711fs NC_000002.12:55334689:C: p.(Glu711AsnfsTer3) NC_000002.12:55334689:C: p.(Glu711AsnfsTer3) NC_000002.12:55334689:C: Analogous +NM_014009.4:c.241C>T NP_054728.2:p.Pro81Ser NC_000023.11:49257737:G:A p.(Pro81Ser) NC_000023.11:49257737:G:A p.(Pro81Ser) NC_000023.11:49257737:G:A Identity +NM_000430.4:c.599T>C NP_000421.1:p.Ile200Thr NC_000017.11:2672684:T:C p.(Ile200Thr) NC_000017.11:2672684:T:C p.(Ile200Thr) NC_000017.11:2672684:T:C Identity +NM_001123.4:c.196A>C NP_001114.2:p.Thr66Pro NC_000010.11:74314718:A:C p.(Thr66Pro) NC_000010.11:74314718:A:C p.(Thr66Pro) NC_000010.11:74314718:A:C Identity +NM_001098.3:c.2040C>A NP_001089.1:p.His680Gln NC_000022.11:41527373:C:A p.(His680Gln) NC_000022.11:41527373:C:A p.(His680Gln) NC_000022.11:41527373:C:A Identity +NM_001330343.2:c.201C>A NP_001317272.1:p.Asp67Glu NC_000012.12:8605440:G:T p.(Asp67Glu) NC_000012.12:8605440:G:T p.(Asp67Glu) NC_000012.12:8605440:G:T Identity +NM_001098209.2:c.1308G>A NP_001091679.1:p.Met436Ile NC_000003.12:41233650:G:A p.(Met436Ile) NC_000003.12:41233650:G:A p.(Met436Ile) NC_000003.12:41233650:G:A Identity +NM_001321307.1:c.2143C>T NP_001308236.1:p.Pro715Ser NC_000011.10:108172840:G:A p.(Pro715Ser) NC_000011.10:108172840:G:A p.(Pro715Ser) NC_000011.10:108172840:G:A Identity +NM_001378454.1:c.7315G>C NP_001365383.1:p.Val2439Leu NC_000002.12:73453841:G:C p.(Val2439Leu) NC_000002.12:73453841:G:C p.(Val2439Leu) NC_000002.12:73453841:G:C Identity +NM_001350935.2:c.1810T>C NP_001337864.1:p.Ser604Pro NC_000012.12:122473579:A:G p.(Ser604Pro) NC_000012.12:122473579:A:G p.(Ser604Pro) NC_000012.12:122473579:A:G Identity +NM_001291411.2:c.4601T>C NP_001278340.2:p.Leu1534Pro NC_000021.9:33553831:T:C p.(Leu1534Pro) NC_000021.9:33553831:T:C p.(Leu1534Pro) NC_000021.9:33553831:T:C Identity +NM_000147.5:c.655G>T NP_000138.2:p.Val219Phe NC_000001.11:23863140:C:A p.(Val219Phe) NC_000001.11:23863140:C:A p.(Val219Phe) NC_000001.11:23863140:C:A Identity +NM_000321.3:c.2152del NP_000312.2:p.Asp718fs NC_000013.11:48463775:G: p.(Asp718ThrfsTer8) NC_000013.11:48463775:G: p.(Asp718ThrfsTer8) NC_000013.11:48463775:G: Analogous +NM_006231.4:c.6536G>A NP_006222.2:p.Gly2179Glu NC_000012.12:132625765:C:T p.(Gly2179Glu) NC_000012.12:132625765:C:T p.(Gly2179Glu) NC_000012.12:132625765:C:T Identity +NM_001008537.3:c.3109C>T NP_001008537.1:p.Gln1037Ter NC_000023.11:74741447:G:A p.(Gln1037Ter) NC_000023.11:74741447:G:A p.(Gln1037Ter) NC_000023.11:74741447:G:A Identity +NM_001105.5:c.314C>T NP_001096.1:p.Ala105Val NC_000002.12:157780353:G:A p.(Ala105Val) NC_000002.12:157780353:G:A p.(Ala105Val) NC_000002.12:157780353:G:A Identity +NM_001301012.2:c.1310del NP_001287941.1:p.Leu437fs NC_000006.12:133513007:TT:T p.(Leu437TyrfsTer24) NC_000006.12:133513007:TT:T p.(Leu437TyrfsTer24) NC_000006.12:133513008:T: Analogous +NM_013334.4:c.951G>A NP_037466.3:p.Trp317Ter NC_000003.12:49721964:C:T p.(Trp317Ter) NC_000003.12:49721964:C:T p.(Trp317Ter) NC_000003.12:49721964:C:T Identity +NM_001271999.2:c.2225C>G NP_001258928.1:p.Ala742Gly NC_000001.11:62559194:G:C p.(Ala742Gly) NC_000001.11:62559194:G:C p.(Ala742Gly) NC_000001.11:62559194:G:C Identity +NM_001271052.1:c.1668G>C NP_001257981.1:p.Leu556Phe NC_000019.10:14751617:C:G p.(Leu556Phe) NC_000019.10:14751617:C:G p.(Leu556Phe) NC_000019.10:14751617:C:G Identity +NM_001378761.1:c.3225G>T NP_001365690.1:p.Lys1075Asn NC_000011.10:121128244:G:T p.(Lys1075Asn) NC_000011.10:121128244:G:T p.(Lys1075Asn) NC_000011.10:121128244:G:T Identity +NM_001029882.3:c.4573C>G NP_001025053.1:p.Pro1525Ala NC_000001.11:27547542:G:C p.(Pro1525Ala) NC_000001.11:27547542:G:C p.(Pro1525Ala) NC_000001.11:27547542:G:C Identity +NM_001326358.2:c.166C>A NP_001313287.1:p.Gln56Lys NC_000016.10:77367532:G:T p.(Gln56Lys) NC_000016.10:77367532:G:T p.(Gln56Lys) NC_000016.10:77367532:G:T Identity +NM_000701.8:c.887C>T NP_000692.2:p.Thr296Met NC_000001.11:116389570:C:T p.(Thr296Met) NC_000001.11:116389570:C:T p.(Thr296Met) NC_000001.11:116389570:C:T Identity +NM_004982.4:c.941T>C NP_004973.1:p.Ile314Thr NC_000012.12:21766056:A:G p.(Ile314Thr) NC_000012.12:21766056:A:G p.(Ile314Thr) NC_000012.12:21766056:A:G Identity +NM_006015.6:c.5432A>G NP_006006.3:p.Lys1811Arg NC_000001.11:26779329:A:G p.(Lys1811Arg) NC_000001.11:26779329:A:G p.(Lys1811Arg) NC_000001.11:26779329:A:G Identity +NM_001324281.3:c.2462C>G NP_001311210.1:p.Pro821Arg NC_000007.14:2919419:G:C p.(Pro821Arg) NC_000007.14:2919419:G:C p.(Pro821Arg) NC_000007.14:2919419:G:C Identity +NM_032119.4:c.11880C>A NP_115495.3:p.Asp3960Glu NC_000005.10:90757100:C:A p.(Asp3960Glu) NC_000005.10:90757100:C:A p.(Asp3960Glu) NC_000005.10:90757100:C:A Identity +NM_001164342.2:c.1823G>A NP_001157814.1:p.Cys608Tyr NC_000003.12:114339407:C:T p.(Cys608Tyr) NC_000003.12:114339407:C:T p.(Cys608Tyr) NC_000003.12:114339407:C:T Identity +NM_001254734.2:c.832_833delinsAA NP_001241663.1:p.Ala278Asn NC_000020.11:2399719:GC:AA p.(Ala278Asn) NC_000020.11:2399719:GC:AA p.(Ala278Asn) NC_000020.11:2399719:GC:AA Identity +NM_000215.4:c.281G>A NP_000206.2:p.Ser94Asn NC_000019.10:17843803:C:T p.(Ser94Asn) NC_000019.10:17843803:C:T p.(Ser94Asn) NC_000019.10:17843803:C:T Identity +NM_006767.4:c.1793G>C NP_006758.2:p.Cys598Ser NC_000022.11:20994876:G:C p.(Cys598Ser) NC_000022.11:20994876:G:C p.(Cys598Ser) NC_000022.11:20994876:G:C Identity +NM_001165966.2:c.2588C>T NP_001159438.1:p.Ser863Leu NC_000017.11:6455566:G:A p.(Ser863Leu) NC_000017.11:6455566:G:A p.(Ser863Leu) NC_000017.11:6455566:G:A Identity +NM_001371986.1:c.2338A>G NP_001358915.1:p.Ser780Gly NC_000002.12:209825912:A:G p.(Ser780Gly) NC_000002.12:209825912:A:G p.(Ser780Gly) NC_000002.12:209825912:A:G Identity +NM_001288781.1:c.984del NP_001275710.1:p.Glu329fs NC_000014.9:88870084:A: p.(Glu329AsnfsTer7) NC_000014.9:88870084:A: p.(Glu329AsnfsTer7) NC_000014.9:88870084:A: Analogous +NM_000829.4:c.187A>G NP_000820.4:p.Asn63Asp NC_000011.10:105612373:A:G p.(Asn63Asp) NC_000011.10:105612373:A:G p.(Asn63Asp) NC_000011.10:105612373:A:G Identity +NM_001042780.3:c.229G>A NP_001036245.1:p.Glu77Lys NC_000011.10:1933801:G:A p.(Glu77Lys) NC_000011.10:1933801:G:A p.(Glu77Lys) NC_000011.10:1933801:G:A Identity +NM_000179.3:c.678G>C NP_000170.1:p.Glu226Asp NC_000002.12:47798660:G:C p.(Glu226Asp) NC_000002.12:47798660:G:C p.(Glu226Asp) NC_000002.12:47798660:G:C Identity +NM_001164507.2:c.4631G>A NP_001157979.2:p.Trp1544Ter NC_000002.12:151667891:C:T p.(Trp1544Ter) NC_000002.12:151667891:C:T p.(Trp1544Ter) NC_000002.12:151667891:C:T Identity +NM_001312673.2:c.181A>G NP_001299602.1:p.Arg61Gly NC_000003.12:196257823:T:C p.(Arg61Gly) NC_000003.12:196257823:T:C p.(Arg61Gly) NC_000003.12:196257823:T:C Identity +NM_001042410.2:c.1109G>A NP_001035869.1:p.Arg370Lys NC_000002.12:219234192:G:A p.(Arg370Lys) NC_000002.12:219234192:G:A p.(Arg370Lys) NC_000002.12:219234192:G:A Identity +NM_001379500.1:c.2958_2985dup NP_001366429.1:p.Pro996fs NC_000021.9:45505213:CCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCC:CCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCC p.(Pro996SerfsTer100) NC_000021.9:45505213:CCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCC:CCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCC p.(Pro996SerfsTer100) ERR:SPDI Analogous +NM_001134418.2:c.1400G>C NP_001127890.1:p.Gly467Ala NC_000003.12:189964048:C:G p.(Gly467Ala) NC_000003.12:189964048:C:G p.(Gly467Ala) NC_000003.12:189964048:C:G Identity +NM_000925.4:c.449C>A NP_000916.2:p.Ala150Asp NC_000003.12:58430796:G:T p.(Ala150Asp) NC_000003.12:58430796:G:T p.(Ala150Asp) NC_000003.12:58430796:G:T Identity +NM_001206999.2:c.3158C>T NP_001193928.1:p.Thr1053Met NC_000012.12:119734355:G:A p.(Thr1053Met) NC_000012.12:119734355:G:A p.(Thr1053Met) NC_000012.12:119734355:G:A Identity +NM_015375.3:c.431G>C NP_056190.1:p.Ser144Thr NC_000001.11:205187640:C:G p.(Ser144Thr) NC_000001.11:205187640:C:G p.(Ser144Thr) NC_000001.11:205187640:C:G Identity +NM_001018064.3:c.1931C>A NP_001018074.1:p.Pro644Gln NC_000009.12:84955323:C:A p.(Pro644Gln) NC_000009.12:84955323:C:A p.(Pro644Gln) NC_000009.12:84955323:C:A Identity +NM_017780.4:c.6565G>A NP_060250.2:p.Gly2189Ser NC_000008.11:60853289:G:A p.(Gly2189Ser) NC_000008.11:60853289:G:A p.(Gly2189Ser) NC_000008.11:60853289:G:A Identity +NM_000153.4:c.645del NP_000144.2:p.Gln216fs NC_000014.9:87976464:A: p.(Gln216LysfsTer6) NC_000014.9:87976464:A: p.(Gln216LysfsTer6) NC_000014.9:87976464:A: Analogous +NM_001317184.2:c.1436G>C NP_001304113.1:p.Gly479Ala NC_000016.10:68819332:G:C p.(Gly479Ala) NC_000016.10:68819332:G:C p.(Gly479Ala) NC_000016.10:68819332:G:C Identity +NM_001447.3:c.10792T>C NP_001438.1:p.Tyr3598His NC_000005.10:151521800:A:G p.(Tyr3598His) NC_000005.10:151521800:A:G p.(Tyr3598His) NC_000005.10:151521800:A:G Identity +NM_001081676.2:c.1820G>T NP_001075145.1:p.Arg607Met NC_000002.12:165140849:C:A p.(Arg607Met) NC_000002.12:165140849:C:A p.(Arg607Met) NC_000002.12:165140849:C:A Identity +NM_014141.6:c.2844C>A NP_054860.1:p.Asp948Glu NC_000007.14:148172311:C:A p.(Asp948Glu) NC_000007.14:148172311:C:A p.(Asp948Glu) NC_000007.14:148172311:C:A Identity +NM_005732.4:c.148A>T NP_005723.2:p.Lys50Ter NC_000005.10:132559301:A:T p.(Lys50Ter) NC_000005.10:132559301:A:T p.(Lys50Ter) NC_000005.10:132559301:A:T Identity +NM_001278055.2:c.9638del NP_001264984.1:p.Ser3213fs NC_000013.11:23333796:C: p.(Ser3213ThrfsTer3) NC_000013.11:23333796:C: p.(Ser3213ThrfsTer3) NC_000013.11:23333796:C: Analogous +NM_001346850.2:c.680A>T NP_001333779.1:p.Glu227Val NC_000012.12:7067756:A:T p.(Glu227Val) NC_000012.12:7067756:A:T p.(Glu227Val) NC_000012.12:7067756:A:T Identity +NM_002204.4:c.240dup NP_002195.1:p.Pro81fs NC_000017.11:50064109:G:GG p.(Pro81AlafsTer22) NC_000017.11:50064109:G:GG p.(Pro81AlafsTer22) ERR:SPDI Analogous +NM_080679.3:c.2425G>C NP_542410.2:p.Gly809Arg NC_000006.12:33173103:C:G p.(Gly809Arg) NC_000006.12:33173103:C:G p.(Gly809Arg) NC_000006.12:33173103:C:G Identity +NM_002894.3:c.1705C>T NP_002885.1:p.Pro569Ser NC_000018.10:22993531:C:T p.(Pro569Ser) NC_000018.10:22993531:C:T p.(Pro569Ser) NC_000018.10:22993531:C:T Identity +NM_001254732.3:c.1031A>G NP_001241661.3:p.Asn344Ser NC_000022.11:24322010:A:G p.(Asn344Ser) NC_000022.11:24322010:A:G p.(Asn344Ser) NC_000022.11:24322010:A:G Identity +NM_178013.4:c.383A>G NP_821092.1:p.Asn128Ser NC_000014.9:93721522:T:C p.(Asn128Ser) NC_000014.9:93721522:T:C p.(Asn128Ser) NC_000014.9:93721522:T:C Identity +NM_001256820.2:c.464T>A NP_001243749.1:p.Leu155Gln NC_000001.11:155900475:A:T p.(Leu155Gln) NC_000001.11:155900475:A:T p.(Leu155Gln) NC_000001.11:155900475:A:T Identity +NM_016580.4:c.2912A>G NP_057664.1:p.Gln971Arg NC_000005.10:141951558:T:C p.(Gln971Arg) NC_000005.10:141951558:T:C p.(Gln971Arg) NC_000005.10:141951558:T:C Identity +NM_004523.4:c.2713G>A NP_004514.2:p.Gly905Ser NC_000010.11:92648376:G:A p.(Gly905Ser) NC_000010.11:92648376:G:A p.(Gly905Ser) NC_000010.11:92648376:G:A Identity +NM_000352.6:c.1768C>G NP_000343.2:p.Leu590Val NC_000011.10:17430862:G:C p.(Leu590Val) NC_000011.10:17430862:G:C p.(Leu590Val) NC_000011.10:17430862:G:C Identity +NM_001379277.1:c.5591C>A NP_001366206.1:p.Ala1864Asp NC_000007.14:92100904:C:A p.(Ala1864Asp) NC_000007.14:92100904:C:A p.(Ala1864Asp) NC_000007.14:92100904:C:A Identity +NM_001165963.4:c.4624G>A NP_001159435.1:p.Val1542Ile NC_000002.12:165994373:C:T p.(Val1542Ile) NC_000002.12:165994373:C:T p.(Val1542Ile) NC_000002.12:165994373:C:T Identity +NM_002848.4:c.23T>C NP_002839.1:p.Ile8Thr NC_000012.12:15322748:T:C p.(Ile8Thr) NC_000012.12:15322748:T:C p.(Ile8Thr) NC_000012.12:15322748:T:C Identity +NM_001079515.3:c.1042G>A NP_001072983.1:p.Asp348Asn NC_000001.11:235437399:G:A p.(Asp348Asn) NC_000001.11:235437399:G:A p.(Asp348Asn) NC_000001.11:235437399:G:A Identity +NM_052859.4:c.634A>G NP_443091.1:p.Lys212Glu NC_000003.12:53119945:T:C p.(Lys212Glu) NC_000003.12:53119945:T:C p.(Lys212Glu) NC_000003.12:53119945:T:C Identity +NM_001114331.3:c.1198dup NP_001107803.1:p.Thr400fs NC_000016.10:1452837:T:TT p.(Thr400AsnfsTer176) NC_000016.10:1452837:T:TT p.(Thr400AsnfsTer176) ERR:SPDI Analogous +NM_001407011.1:c.163A>T NP_001393940.1:p.Ile55Phe NC_000015.10:67066316:A:T p.(Ile55Phe) NC_000015.10:67066316:A:T p.(Ile55Phe) NC_000015.10:67066316:A:T Identity +NM_032043.3:c.1293del NP_114432.2:p.Lys432fs NC_000017.11:61799146:CC:C p.(Lys432ArgfsTer18) NC_000017.11:61799146:CC:C p.(Lys432ArgfsTer18) NC_000017.11:61799146:C: Analogous +NM_001318876.2:c.91G>A NP_001305805.1:p.Gly31Ser NC_000006.12:43517326:G:A p.(Gly31Ser) NC_000006.12:43517326:G:A p.(Gly31Ser) NC_000006.12:43517326:G:A Identity +NM_001369369.1:c.1234C>G NP_001356298.1:p.Pro412Ala NC_000017.11:28534804:C:G p.(Pro412Ala) NC_000017.11:28534804:C:G p.(Pro412Ala) NC_000017.11:28534804:C:G Identity +NM_000232.5:c.494del NP_000223.1:p.Asp165fs NC_000004.12:52028856:T: p.(Asp165AlafsTer31) NC_000004.12:52028856:T: p.(Asp165AlafsTer31) NC_000004.12:52028856:T: Analogous +NM_006623.4:c.35G>T NP_006614.2:p.Ser12Ile NC_000001.11:119712056:G:T p.(Ser12Ile) NC_000001.11:119712056:G:T p.(Ser12Ile) NC_000001.11:119712056:G:T Identity +NM_001324281.3:c.3104A>T NP_001311210.1:p.Glu1035Val NC_000007.14:2912211:T:A p.(Glu1035Val) NC_000007.14:2912211:T:A p.(Glu1035Val) NC_000007.14:2912211:T:A Identity +NM_000111.3:c.998T>C NP_000102.1:p.Val333Ala NC_000007.14:107783325:A:G p.(Val333Ala) NC_000007.14:107783325:A:G p.(Val333Ala) NC_000007.14:107783325:A:G Identity +NM_001256850.1:c.96535_96536del NP_001243779.1:p.Met32179fs NC_000002.12:178535155:ATATAT:ATAT p.(Met32179AspfsTer3) NC_000002.12:178535155:ATATAT:ATAT p.(Met32179AspfsTer3) NC_000002.12:178535155:AT: Analogous +NM_001411020.1:c.1096G>C NP_001397949.1:p.Gly366Arg NC_000014.9:50161482:C:G p.(Gly366Arg) NC_000014.9:50161482:C:G p.(Gly366Arg) NC_000014.9:50161482:C:G Identity +NM_000448.3:c.1534G>A NP_000439.2:p.Val512Ile NC_000011.10:36574837:G:A p.(Val512Ile) NC_000011.10:36574837:G:A p.(Val512Ile) NC_000011.10:36574837:G:A Identity +NM_001256324.2:c.6919T>G NP_001243253.1:p.Ser2307Ala NC_000017.11:50626724:T:G p.(Ser2307Ala) NC_000017.11:50626724:T:G p.(Ser2307Ala) NC_000017.11:50626724:T:G Identity +NM_080679.3:c.4148C>T NP_542410.2:p.Pro1383Leu NC_000006.12:33165943:G:A p.(Pro1383Leu) NC_000006.12:33165943:G:A p.(Pro1383Leu) NC_000006.12:33165943:G:A Identity +NM_001130438.3:c.6778A>G NP_001123910.1:p.Ile2260Val NC_000009.12:128632141:A:G p.(Ile2260Val) NC_000009.12:128632141:A:G p.(Ile2260Val) NC_000009.12:128632141:A:G Identity +NM_031935.3:c.3514A>G NP_114141.2:p.Lys1172Glu NC_000001.11:185994822:A:G p.(Lys1172Glu) NC_000001.11:185994822:A:G p.(Lys1172Glu) NC_000001.11:185994822:A:G Identity +NM_001142800.2:c.695G>T NP_001136272.1:p.Arg232Ile NC_000006.12:65494715:C:A p.(Arg232Ile) NC_000006.12:65494715:C:A p.(Arg232Ile) NC_000006.12:65494715:C:A Identity +NM_001396000.1:c.1475G>A NP_001382929.1:p.Arg492Gln NC_000019.10:41901925:G:A p.(Arg492Gln) NC_000019.10:41901925:G:A p.(Arg492Gln) NC_000019.10:41901925:G:A Identity +NM_001256849.1:c.59G>T NP_001243778.1:p.Gly20Val NC_000019.10:50398909:G:T p.(Gly20Val) NC_000019.10:50398909:G:T p.(Gly20Val) NC_000019.10:50398909:G:T Identity +NM_001134418.2:c.857T>C NP_001127890.1:p.Leu286Pro NC_000003.12:189974609:A:G p.(Leu286Pro) NC_000003.12:189974609:A:G p.(Leu286Pro) NC_000003.12:189974609:A:G Identity +NM_004525.3:c.335A>C NP_004516.2:p.Gln112Pro NC_000002.12:169307372:T:G p.(Gln112Pro) NC_000002.12:169307372:T:G p.(Gln112Pro) NC_000002.12:169307372:T:G Identity +NM_001042544.1:c.4864C>T NP_001036009.1:p.Pro1622Ser NC_000019.10:40629538:C:T p.(Pro1622Ser) NC_000019.10:40629538:C:T p.(Pro1622Ser) NC_000019.10:40629538:C:T Identity +NM_000190.4:c.1043A>G NP_000181.2:p.Lys348Arg NC_000011.10:119093239:A:G p.(Lys348Arg) NC_000011.10:119093239:A:G p.(Lys348Arg) NC_000011.10:119093239:A:G Identity +NM_001308301.1:c.52A>G NP_001295230.1:p.Thr18Ala NC_000016.10:46732594:T:C p.(Thr18Ala) NC_000016.10:46732594:T:C p.(Thr18Ala) NC_000016.10:46732594:T:C Identity +NM_001193300.2:c.238G>C NP_001180229.1:p.Ala80Pro NC_000001.11:156156511:G:C p.(Ala80Pro) NC_000001.11:156156511:G:C p.(Ala80Pro) NC_000001.11:156156511:G:C Identity +NM_000505.4:c.577G>T NP_000496.2:p.Glu193Ter NC_000005.10:177404866:C:A p.(Glu193Ter) NC_000005.10:177404866:C:A p.(Glu193Ter) NC_000005.10:177404866:C:A Identity +NM_000147.5:c.266A>T NP_000138.2:p.Tyr89Phe NC_000001.11:23868020:T:A p.(Tyr89Phe) NC_000001.11:23868020:T:A p.(Tyr89Phe) NC_000001.11:23868020:T:A Identity +NM_022454.4:c.817C>G NP_071899.1:p.Arg273Gly NC_000008.11:54459566:C:G p.(Arg273Gly) NC_000008.11:54459566:C:G p.(Arg273Gly) NC_000008.11:54459566:C:G Identity +NM_002180.3:c.1919_1920dup NP_002171.2:p.Glu641fs NC_000011.10:68936397:TTT:TTTTT p.(Glu641LeufsTer93) NC_000011.10:68936397:TTT:TTTTT p.(Glu641LeufsTer93) ERR:SPDI Analogous +NM_000094.4:c.3212del NP_000085.1:p.Ala1071fs NC_000003.12:48587035:G: p.(Ala1071ValfsTer38) NC_000003.12:48587035:G: p.(Ala1071ValfsTer38) NC_000003.12:48587035:G: Analogous +NM_003482.4:c.3394G>A NP_003473.3:p.Gly1132Ser NC_000012.12:49050193:C:T p.(Gly1132Ser) NC_000012.12:49050193:C:T p.(Gly1132Ser) NC_000012.12:49050193:C:T Identity +NM_001376929.1:c.832G>A NP_001363858.1:p.Val278Ile NC_000001.11:219915885:C:T p.(Val278Ile) NC_000001.11:219915885:C:T p.(Val278Ile) NC_000001.11:219915885:C:T Identity +NM_000057.4:c.739C>T NP_000048.1:p.His247Tyr NC_000015.10:90750006:C:T p.(His247Tyr) NC_000015.10:90750006:C:T p.(His247Tyr) NC_000015.10:90750006:C:T Identity +NM_000388.4:c.1231T>A NP_000379.3:p.Tyr411Asn NC_000003.12:122262265:T:A p.(Tyr411Asn) NC_000003.12:122262265:T:A p.(Tyr411Asn) NC_000003.12:122262265:T:A Identity +NM_005876.5:c.8605C>G NP_005867.3:p.Pro2869Ala NC_000002.12:219489622:C:G p.(Pro2869Ala) NC_000002.12:219489622:C:G p.(Pro2869Ala) NC_000002.12:219489622:C:G Identity +NM_001024218.2:c.26C>A NP_001019389.1:p.Thr9Asn NC_000014.9:66508552:C:A p.(Thr9Asn) NC_000014.9:66508552:C:A p.(Thr9Asn) NC_000014.9:66508552:C:A Identity +NM_000234.3:c.2517C>A NP_000225.1:p.Ser839Arg NC_000019.10:48117703:G:T p.(Ser839Arg) NC_000019.10:48117703:G:T p.(Ser839Arg) NC_000019.10:48117703:G:T Identity +NM_014974.3:c.3389A>G NP_055789.1:p.Asn1130Ser NC_000010.11:344872:T:C p.(Asn1130Ser) NC_000010.11:344872:T:C p.(Asn1130Ser) NC_000010.11:344872:T:C Identity +NM_001353765.2:c.560G>A NP_001340694.1:p.Cys187Tyr NC_000002.12:29209857:C:T p.(Cys187Tyr) NC_000002.12:29209857:C:T p.(Cys187Tyr) NC_000002.12:29209857:C:T Identity +NM_004415.4:c.4113_4114insCAAG NP_004406.2:p.Ile1372fs NC_000006.12:7580303::CAAG p.(Ile1372GlnfsTer37) NC_000006.12:7580302:C:CAAG p.(Ile1372GlnfsTer37) NC_000006.12:7580303:CA:CAAG Analogous +NM_001291411.2:c.517G>A NP_001278340.2:p.Ala173Thr NC_000021.9:33549747:G:A p.(Ala173Thr) NC_000021.9:33549747:G:A p.(Ala173Thr) NC_000021.9:33549747:G:A Identity +NM_001042594.2:c.1485C>G NP_001036059.1:p.Asp495Glu NC_000007.14:124823988:G:C p.(Asp495Glu) NC_000007.14:124823988:G:C p.(Asp495Glu) NC_000007.14:124823988:G:C Identity +NM_022725.4:c.462C>A NP_073562.1:p.Asn154Lys NC_000011.10:22625348:G:T p.(Asn154Lys) NC_000011.10:22625348:G:T p.(Asn154Lys) NC_000011.10:22625348:G:T Identity +NM_001369346.1:c.4111G>A NP_001356275.1:p.Val1371Ile NC_000002.12:25742051:C:T p.(Val1371Ile) NC_000002.12:25742051:C:T p.(Val1371Ile) NC_000002.12:25742051:C:T Identity +NM_001257374.3:c.548C>G NP_001244303.1:p.Ser183Trp NC_000001.11:156135259:C:G p.(Ser183Trp) NC_000001.11:156135259:C:G p.(Ser183Trp) NC_000001.11:156135259:C:G Identity +NM_032119.4:c.18184T>C NP_115495.3:p.Phe6062Leu NC_000005.10:91072477:T:C p.(Phe6062Leu) NC_000005.10:91072477:T:C p.(Phe6062Leu) NC_000005.10:91072477:T:C Identity +NM_005188.4:c.1831G>C NP_005179.2:p.Gly611Arg NC_000011.10:119285455:G:C p.(Gly611Arg) NC_000011.10:119285455:G:C p.(Gly611Arg) NC_000011.10:119285455:G:C Identity +NM_000170.3:c.830C>G NP_000161.2:p.Thr277Arg NC_000009.12:6605161:G:C p.(Thr277Arg) NC_000009.12:6605161:G:C p.(Thr277Arg) NC_000009.12:6605161:G:C Identity +NM_002439.5:c.766T>A NP_002430.3:p.Tyr256Asn NC_000005.10:80670282:T:A p.(Tyr256Asn) NC_000005.10:80670282:T:A p.(Tyr256Asn) NC_000005.10:80670282:T:A Identity +NM_000282.4:c.1127T>C NP_000273.2:p.Val376Ala NC_000013.11:100301520:T:C p.(Val376Ala) NC_000013.11:100301520:T:C p.(Val376Ala) NC_000013.11:100301520:T:C Identity +LRG_288t1:c.3366dup LRG_288p1:p.Ala1124Glyfs NC_000007.14:150945474:CCCCC:CCCCCC ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:Data provider error: ValueError: Transcript LRG_288t1 not found ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_288t1, alt_ac=LRG_288t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_288t1 not found +NM_032119.4:c.17787C>A NP_115495.3:p.Phe5929Leu NC_000005.10:90863787:C:A p.(Phe5929Leu) NC_000005.10:90863787:C:A p.(Phe5929Leu) NC_000005.10:90863787:C:A Identity +NM_000227.6:c.1741G>T NP_000218.3:p.Glu581Ter NC_000018.10:23904646:G:T p.(Glu581Ter) NC_000018.10:23904646:G:T p.(Glu581Ter) NC_000018.10:23904646:G:T Identity +NM_012318.3:c.1346A>G NP_036450.1:p.Gln449Arg NC_000004.12:1823117:T:C p.(Gln449Arg) NC_000004.12:1823117:T:C p.(Gln449Arg) NC_000004.12:1823117:T:C Identity +NM_001734.5:c.309C>A NP_001725.1:p.Tyr103Ter NC_000012.12:7062984:C:A p.(Tyr103Ter) NC_000012.12:7062984:C:A p.(Tyr103Ter) NC_000012.12:7062984:C:A Identity +NM_000098.3:c.1475C>T NP_000089.1:p.Ala492Val NC_000001.11:53211148:C:T p.(Ala492Val) NC_000001.11:53211148:C:T p.(Ala492Val) NC_000001.11:53211148:C:T Identity +NM_001844.5:c.1702G>A NP_001835.3:p.Asp568Asn NC_000012.12:47985565:C:T p.(Asp568Asn) NC_000012.12:47985565:C:T p.(Asp568Asn) NC_000012.12:47985565:C:T Identity +NM_133259.4:c.38G>C NP_573566.2:p.Arg13Pro NC_000002.12:43995909:C:G p.(Arg13Pro) NC_000002.12:43995909:C:G p.(Arg13Pro) NC_000002.12:43995909:C:G Identity +NM_001317012.2:c.1813T>C NP_001303941.1:p.Ser605Pro NC_000020.11:23370117:T:C p.(Ser605Pro) NC_000020.11:23370117:T:C p.(Ser605Pro) NC_000020.11:23370117:T:C Identity +NM_000388.4:c.163C>T NP_000379.3:p.Pro55Ser NC_000003.12:122254351:C:T p.(Pro55Ser) NC_000003.12:122254351:C:T p.(Pro55Ser) NC_000003.12:122254351:C:T Identity +NM_001130455.2:c.2821C>T NP_001123927.1:p.His941Tyr NC_000002.12:71569826:C:T p.(His941Tyr) NC_000002.12:71569826:C:T p.(His941Tyr) NC_000002.12:71569826:C:T Identity +NM_001099222.3:c.262C>A NP_001092692.1:p.Gln88Lys NC_000009.12:26980575:C:A p.(Gln88Lys) NC_000009.12:26980575:C:A p.(Gln88Lys) NC_000009.12:26980575:C:A Identity +NM_001376.5:c.8283_8284delinsAG NP_001367.2:p.Leu2762Val NC_000014.9:102018555:CC:AG p.(Leu2762Val) NC_000014.9:102018555:CC:AG p.(Leu2762Val) NC_000014.9:102018555:CC:AG Identity +NM_001308176.2:c.2046C>A NP_001295105.1:p.Asp682Glu NC_000018.10:27985069:G:T p.(Asp682Glu) NC_000018.10:27985069:G:T p.(Asp682Glu) NC_000018.10:27985069:G:T Identity +NM_001261826.3:c.2773C>G NP_001248755.1:p.Gln925Glu NC_000019.10:2112873:G:C p.(Gln925Glu) NC_000019.10:2112873:G:C p.(Gln925Glu) NC_000019.10:2112873:G:C Identity +NM_080679.3:c.2318G>A NP_542410.2:p.Gly773Glu NC_000006.12:33173544:C:T p.(Gly773Glu) NC_000006.12:33173544:C:T p.(Gly773Glu) NC_000006.12:33173544:C:T Identity +NM_001190981.2:c.2480T>A NP_001177910.1:p.Phe827Tyr NC_000005.10:55941175:A:T p.(Phe827Tyr) NC_000005.10:55941175:A:T p.(Phe827Tyr) NC_000005.10:55941175:A:T Identity +NM_000329.3:c.1282_1303del NP_000320.1:p.Gly428fs NC_000001.11:68431316:ACGCATATGTGTAAGGTTTCCCAC:AC p.(Gly428MetfsTer5) NC_000001.11:68431316:ACGCATATGTGTAAGGTTTCCCAC:AC p.(Gly428MetfsTer5) NC_000001.11:68431316:ACGCATATGTGTAAGGTTTCCC: Analogous +NM_000127.3:c.1543G>A NP_000118.2:p.Val515Ile NC_000008.11:117818523:C:T p.(Val515Ile) NC_000008.11:117818523:C:T p.(Val515Ile) NC_000008.11:117818523:C:T Identity +NM_001161587.2:c.150G>C NP_001155059.1:p.Lys50Asn NC_000019.10:48991451:C:G p.(Lys50Asn) NC_000019.10:48991451:C:G p.(Lys50Asn) NC_000019.10:48991451:C:G Identity +NM_001135999.2:c.2612C>T NP_001129471.2:p.Ala871Val NC_000009.12:35555656:C:T p.(Ala871Val) NC_000009.12:35555656:C:T p.(Ala871Val) NC_000009.12:35555656:C:T Identity +NM_001318900.1:c.607A>G NP_001305829.1:p.Ser203Gly NC_000010.11:87060967:T:C p.(Ser203Gly) NC_000010.11:87060967:T:C p.(Ser203Gly) NC_000010.11:87060967:T:C Identity +NM_001110792.2:c.139A>G NP_001104262.1:p.Lys47Glu NC_000023.11:154032480:T:C p.(Lys47Glu) NC_000023.11:154032480:T:C p.(Lys47Glu) NC_000023.11:154032480:T:C Identity +NM_030665.4:c.5492G>T NP_109590.3:p.Trp1831Leu NC_000017.11:17798439:G:T p.(Trp1831Leu) NC_000017.11:17798439:G:T p.(Trp1831Leu) NC_000017.11:17798439:G:T Identity +NM_001033855.3:c.1954G>A NP_001029027.1:p.Glu652Lys NC_000010.11:14908532:C:T p.(Glu652Lys) NC_000010.11:14908532:C:T p.(Glu652Lys) NC_000010.11:14908532:C:T Identity +NM_000195.5:c.154G>A NP_000186.2:p.Ala52Thr NC_000010.11:98435735:C:T p.(Ala52Thr) NC_000010.11:98435735:C:T p.(Ala52Thr) NC_000010.11:98435735:C:T Identity +NM_004813.4:c.700A>G NP_004804.2:p.Ser234Gly NC_000011.10:45914197:T:C p.(Ser234Gly) NC_000011.10:45914197:T:C p.(Ser234Gly) NC_000011.10:45914197:T:C Identity +NM_001256849.1:c.500A>G NP_001243778.1:p.Glu167Gly NC_000019.10:50402034:A:G p.(Glu167Gly) NC_000019.10:50402034:A:G p.(Glu167Gly) NC_000019.10:50402034:A:G Identity +NM_000051.4:c.4093C>A NP_000042.3:p.Leu1365Ile NC_000011.10:108287698:C:A p.(Leu1365Ile) NC_000011.10:108287698:C:A p.(Leu1365Ile) NC_000011.10:108287698:C:A Identity +NM_032119.4:c.10636C>A NP_115495.3:p.Pro3546Thr NC_000005.10:90745131:C:A p.(Pro3546Thr) NC_000005.10:90745131:C:A p.(Pro3546Thr) NC_000005.10:90745131:C:A Identity +NM_001042482.2:c.293A>C NP_001035947.1:p.His98Pro NC_000007.14:144623226:T:G p.(His98Pro) NC_000007.14:144623226:T:G p.(His98Pro) NC_000007.14:144623226:T:G Identity +NM_001278645.2:c.236G>A NP_001265574.1:p.Arg79Gln NC_000008.11:124547108:G:A p.(Arg79Gln) NC_000008.11:124547108:G:A p.(Arg79Gln) NC_000008.11:124547108:G:A Identity +NM_000235.4:c.134G>C NP_000226.2:p.Gly45Ala NC_000010.11:89245770:C:G p.(Gly45Ala) NC_000010.11:89245770:C:G p.(Gly45Ala) NC_000010.11:89245770:C:G Identity +NM_001316327.2:c.1501G>A NP_001303256.1:p.Gly501Arg NC_000003.12:53188804:G:A p.(Gly501Arg) NC_000003.12:53188804:G:A p.(Gly501Arg) NC_000003.12:53188804:G:A Identity +NM_001363813.1:c.52C>T NP_001350742.1:p.Arg18Cys NC_000017.11:65558568:G:A p.(Arg18Cys) NC_000017.11:65558568:G:A p.(Arg18Cys) NC_000017.11:65558568:G:A Identity +NM_000059.4:c.983C>G NP_000050.3:p.Thr328Ser NC_000013.11:32332460:C:G p.(Thr328Ser) NC_000013.11:32332460:C:G p.(Thr328Ser) NC_000013.11:32332460:C:G Identity +NM_001406875.1:c.754T>G NP_001393804.1:p.Leu252Val NC_000007.14:5989880:A:C p.(Leu252Val) NC_000007.14:5989880:A:C p.(Leu252Val) NC_000007.14:5989880:A:C Identity +NM_003906.5:c.211C>A NP_003897.2:p.Gln71Lys NC_000021.9:46285075:G:T p.(Gln71Lys) NC_000021.9:46285075:G:T p.(Gln71Lys) NC_000021.9:46285075:G:T Identity +NM_004525.3:c.13861G>T NP_004516.2:p.Ala4621Ser NC_000002.12:169128769:C:A p.(Ala4621Ser) NC_000002.12:169128769:C:A p.(Ala4621Ser) NC_000002.12:169128769:C:A Identity +NM_138477.4:c.3062dup NP_612486.2:p.Pro1022fs NC_000015.10:42727654:G:GG p.(Pro1022SerfsTer24) NC_000015.10:42727654:G:GG p.(Pro1022SerfsTer24) ERR:SPDI Analogous +NM_003640.5:c.202del NP_003631.2:p.Ser68fs NC_000009.12:108929869:TT:T p.(Ser68ValfsTer41) NC_000009.12:108929869:TT:T p.(Ser68ValfsTer41) NC_000009.12:108929869:T: Analogous +NM_001001977.1:c.144_146delAAA NP_001001977.1:p.Lys50del NC_000020.11:59030315:TTT: ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found ERR:AlignmentMapper(tx_ac=NM_001001977.1, alt_ac=NM_001001977.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001977.1, alt_ac=NM_001001977.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found +NM_000379.4:c.974A>C NP_000370.2:p.Glu325Ala NC_000002.12:31383064:T:G p.(Glu325Ala) NC_000002.12:31383064:T:G p.(Glu325Ala) NC_000002.12:31383064:T:G Identity +NM_001142298.2:c.808C>A NP_001135770.1:p.Gln270Lys NC_000005.10:179833676:C:A p.(Gln270Lys) NC_000005.10:179833676:C:A p.(Gln270Lys) NC_000005.10:179833676:C:A Identity +NM_006517.5:c.401A>G NP_006508.2:p.Glu134Gly NC_000023.11:74422037:A:G p.(Glu134Gly) NC_000023.11:74422037:A:G p.(Glu134Gly) NC_000023.11:74422037:A:G Identity +NM_001261406.2:c.1382G>A NP_001248335.1:p.Arg461Lys NC_000009.12:13206007:C:T p.(Arg461Lys) NC_000009.12:13206007:C:T p.(Arg461Lys) NC_000009.12:13206007:C:T Identity +NM_001354263.2:c.3589G>A NP_001341192.1:p.Glu1197Lys NC_000009.12:137834417:G:A p.(Glu1197Lys) NC_000009.12:137834417:G:A p.(Glu1197Lys) NC_000009.12:137834417:G:A Identity +NM_014141.6:c.2530G>T NP_054860.1:p.Asp844Tyr NC_000007.14:148118263:G:T p.(Asp844Tyr) NC_000007.14:148118263:G:T p.(Asp844Tyr) NC_000007.14:148118263:G:T Identity +NM_000179.3:c.2416T>G NP_000170.1:p.Ser806Ala NC_000002.12:47800398:T:G p.(Ser806Ala) NC_000002.12:47800398:T:G p.(Ser806Ala) NC_000002.12:47800398:T:G Identity +NM_001261826.3:c.2504C>T NP_001248755.1:p.Pro835Leu NC_000019.10:2114221:G:A p.(Pro835Leu) NC_000019.10:2114221:G:A p.(Pro835Leu) NC_000019.10:2114221:G:A Identity +NM_001605.3:c.982C>A NP_001596.2:p.Leu328Ile NC_000016.10:70268359:G:T p.(Leu328Ile) NC_000016.10:70268359:G:T p.(Leu328Ile) NC_000016.10:70268359:G:T Identity +NM_018136.5:c.8359G>A NP_060606.3:p.Val2787Ile NC_000001.11:197100891:C:T p.(Val2787Ile) NC_000001.11:197100891:C:T p.(Val2787Ile) NC_000001.11:197100891:C:T Identity +NM_001145860.2:c.701G>C NP_001139332.1:p.Cys234Ser NC_000008.11:98130191:G:C p.(Cys234Ser) NC_000008.11:98130191:G:C p.(Cys234Ser) NC_000008.11:98130191:G:C Identity +NM_152617.4:c.199C>G NP_689830.2:p.Arg67Gly NC_000003.12:196502974:G:C p.(Arg67Gly) NC_000003.12:196502974:G:C p.(Arg67Gly) NC_000003.12:196502974:G:C Identity +NM_001110556.2:c.280A>G NP_001104026.1:p.Asn94Asp NC_000023.11:154370965:T:C p.(Asn94Asp) NC_000023.11:154370965:T:C p.(Asn94Asp) NC_000023.11:154370965:T:C Identity +NM_006269.2:c.1172T>A NP_006260.1:p.Val391Glu NC_000008.11:54625053:T:A p.(Val391Glu) NC_000008.11:54625053:T:A p.(Val391Glu) NC_000008.11:54625053:T:A Identity +NM_006204.4:c.88G>A NP_006195.3:p.Val30Met NC_000010.11:93612812:G:A p.(Val30Met) NC_000010.11:93612812:G:A p.(Val30Met) NC_000010.11:93612812:G:A Identity +NM_004525.3:c.4103C>T NP_004516.2:p.Pro1368Leu NC_000002.12:169239717:G:A p.(Pro1368Leu) NC_000002.12:169239717:G:A p.(Pro1368Leu) NC_000002.12:169239717:G:A Identity +NM_001374299.1:c.461A>G NP_001361228.1:p.Gln154Arg NC_000009.12:92286553:T:C p.(Gln154Arg) NC_000009.12:92286553:T:C p.(Gln154Arg) NC_000009.12:92286553:T:C Identity +NM_000051.4:c.1844T>A NP_000042.3:p.Leu615His NC_000011.10:108252857:T:A p.(Leu615His) NC_000011.10:108252857:T:A p.(Leu615His) NC_000011.10:108252857:T:A Identity +NM_001165962.2:c.2345A>C NP_001159434.1:p.Lys782Thr NC_000017.11:12992833:T:G p.(Lys782Thr) NC_000017.11:12992833:T:G p.(Lys782Thr) NC_000017.11:12992833:T:G Identity +NM_000405.5:c.512A>T NP_000396.2:p.Glu171Val NC_000005.10:151267380:A:T p.(Glu171Val) NC_000005.10:151267380:A:T p.(Glu171Val) NC_000005.10:151267380:A:T Identity +NM_001379141.1:c.547G>C NP_001366070.1:p.Glu183Gln NC_000018.10:44949886:G:C p.(Glu183Gln) NC_000018.10:44949886:G:C p.(Glu183Gln) NC_000018.10:44949886:G:C Identity +NM_004387.4:c.730G>A NP_004378.1:p.Gly244Ser NC_000005.10:173232813:C:T p.(Gly244Ser) NC_000005.10:173232813:C:T p.(Gly244Ser) NC_000005.10:173232813:C:T Identity +NM_017890.5:c.6229G>T NP_060360.3:p.Ala2077Ser NC_000008.11:99699631:G:T p.(Ala2077Ser) NC_000008.11:99699631:G:T p.(Ala2077Ser) NC_000008.11:99699631:G:T Identity +NM_000548.5:c.459C>G NP_000539.2:p.Ile153Met NC_000016.10:2054417:C:G p.(Ile153Met) NC_000016.10:2054417:C:G p.(Ile153Met) NC_000016.10:2054417:C:G Identity +NM_001365951.3:c.2965_2966del NP_001352880.1:p.Leu989fs NC_000001.11:10334559:CT: p.(Leu989AspfsTer9) NC_000001.11:10334559:CT: p.(Leu989AspfsTer9) NC_000001.11:10334559:CT: Analogous +LRG_1213t1:c.1445A>G LRG_1213p1:p.Asp482Gly NC_000001.11:12261930:A:G ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found ERR:AlignmentMapper(tx_ac=LRG_1213t1, alt_ac=LRG_1213t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1213t1, alt_ac=LRG_1213t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1213t1 not found +NM_000274.4:c.1036G>A NP_000265.1:p.Ala346Thr NC_000010.11:124400962:C:T p.(Ala346Thr) NC_000010.11:124400962:C:T p.(Ala346Thr) NC_000010.11:124400962:C:T Identity +NM_000142.5:c.1865A>G NP_000133.1:p.Asn622Ser NC_000004.12:1806078:A:G p.(Asn622Ser) NC_000004.12:1806078:A:G p.(Asn622Ser) NC_000004.12:1806078:A:G Identity +NM_000268.4:c.1676del NP_000259.1:p.Asp559fs NC_000022.11:29681539:A: p.(Asp559ValfsTer40) NC_000022.11:29681539:A: p.(Asp559ValfsTer40) NC_000022.11:29681539:A: Analogous +NM_001190274.2:c.2736dup NP_001177203.1:p.Tyr913fs NC_000002.12:47808165:T:TT p.(Tyr913IlefsTer2) NC_000002.12:47808165:T:TT p.(Tyr913IlefsTer2) ERR:SPDI Analogous +NM_001385640.1:c.676C>T NP_001372569.1:p.Arg226Ter NC_000001.11:930220:C:T p.(Arg226Ter) NC_000001.11:930220:C:T p.(Arg226Ter) NC_000001.11:930220:C:T Identity +NM_000215.4:c.941A>G NP_000206.2:p.Glu314Gly NC_000019.10:17841682:T:C p.(Glu314Gly) NC_000019.10:17841682:T:C p.(Glu314Gly) NC_000019.10:17841682:T:C Identity +NM_001190879.3:c.938C>G NP_001177808.1:p.Ser313Trp NC_000002.12:147939159:G:C p.(Ser313Trp) NC_000002.12:147939159:G:C p.(Ser313Trp) NC_000002.12:147939159:G:C Identity +NM_000790.4:c.220C>G NP_000781.2:p.Pro74Ala NC_000007.14:50540009:G:C p.(Pro74Ala) NC_000007.14:50540009:G:C p.(Pro74Ala) NC_000007.14:50540009:G:C Identity +NM_001163435.3:c.2574T>G NP_001156907.2:p.Phe858Leu NC_000004.12:106046677:A:C p.(Phe858Leu) NC_000004.12:106046677:A:C p.(Phe858Leu) NC_000004.12:106046677:A:C Identity +NM_006231.4:c.730T>C NP_006222.2:p.Tyr244His NC_000012.12:132677433:A:G p.(Tyr244His) NC_000012.12:132677433:A:G p.(Tyr244His) NC_000012.12:132677433:A:G Identity +NM_001320424.1:c.215T>C NP_001307353.1:p.Val72Ala NC_000014.9:104741883:T:C p.(Val72Ala) NC_000014.9:104741883:T:C p.(Val72Ala) NC_000014.9:104741883:T:C Identity +NM_001293557.2:c.1938C>G NP_001280486.1:p.Ile646Met NC_000016.10:50711929:C:G p.(Ile646Met) NC_000016.10:50711929:C:G p.(Ile646Met) NC_000016.10:50711929:C:G Identity +NM_000166.6:c.329G>T NP_000157.1:p.Gly110Val NC_000023.11:71224035:G:T p.(Gly110Val) NC_000023.11:71224035:G:T p.(Gly110Val) NC_000023.11:71224035:G:T Identity +NM_001142800.2:c.3968T>G NP_001136272.1:p.Leu1323Ter NC_000006.12:64591898:A:C p.(Leu1323Ter) NC_000006.12:64591898:A:C p.(Leu1323Ter) NC_000006.12:64591898:A:C Identity +NM_004204.5:c.124C>G NP_004195.2:p.Pro42Ala NC_000016.10:574197:C:G p.(Pro42Ala) NC_000016.10:574197:C:G p.(Pro42Ala) NC_000016.10:574197:C:G Identity +NM_001110792.2:c.509C>G NP_001104262.1:p.Thr170Arg NC_000023.11:154031354:G:C p.(Thr170Arg) NC_000023.11:154031354:G:C p.(Thr170Arg) NC_000023.11:154031354:G:C Identity +NM_206933.4:c.14892C>A NP_996816.3:p.Tyr4964Ter NC_000001.11:215640633:G:T p.(Tyr4964Ter) NC_000001.11:215640633:G:T p.(Tyr4964Ter) NC_000001.11:215640633:G:T Identity +NM_001289123.2:c.1213T>A NP_001276052.1:p.Cys405Ser NC_000019.10:6495438:A:T p.(Cys405Ser) NC_000019.10:6495438:A:T p.(Cys405Ser) NC_000019.10:6495438:A:T Identity +NM_001146702.2:c.3157G>T NP_001140174.1:p.Glu1053Ter NC_000023.11:53195010:C:A p.(Glu1053Ter) NC_000023.11:53195010:C:A p.(Glu1053Ter) NC_000023.11:53195010:C:A Identity +NM_001378454.1:c.4024G>T NP_001365383.1:p.Val1342Phe NC_000002.12:73450550:G:T p.(Val1342Phe) NC_000002.12:73450550:G:T p.(Val1342Phe) NC_000002.12:73450550:G:T Identity +NM_020987.5:c.5531C>T NP_066267.2:p.Ser1844Leu NC_000010.11:60075349:G:A p.(Ser1844Leu) NC_000010.11:60075349:G:A p.(Ser1844Leu) NC_000010.11:60075349:G:A Identity +NM_001379200.1:c.1283C>G NP_001366129.1:p.Pro428Arg NC_000022.11:19766634:C:G p.(Pro428Arg) NC_000022.11:19766634:C:G p.(Pro428Arg) NC_000022.11:19766634:C:G Identity +NM_000342.4:c.1957del NP_000333.1:p.Leu653fs NC_000017.11:44254595:G: p.(Leu653TrpfsTer11) NC_000017.11:44254595:G: p.(Leu653TrpfsTer11) NC_000017.11:44254595:G: Analogous +NM_001346754.2:c.979C>T NP_001333683.1:p.His327Tyr NC_000017.11:36538079:C:T p.(His327Tyr) NC_000017.11:36538079:C:T p.(His327Tyr) NC_000017.11:36538079:C:T Identity +NM_001321135.2:c.17A>G NP_001308064.1:p.Gln6Arg NC_000015.10:76995589:A:G p.(Gln6Arg) NC_000015.10:76995589:A:G p.(Gln6Arg) NC_000015.10:76995589:A:G Identity +NM_000350.3:c.3017G>T NP_000341.2:p.Gly1006Val NC_000001.11:94044645:C:A p.(Gly1006Val) NC_000001.11:94044645:C:A p.(Gly1006Val) NC_000001.11:94044645:C:A Identity +NM_001168249.1:c.3588delT NP_001161721.1:p.Pro1198Leufs NC_000001.11:102914390:AAAA:AAA ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001029896.2:c.194TGG[1] NP_001025067.1:p.Val66del NC_000023.11:49077678:CCACCA:CCA p.(Val66del) NC_000023.11:49077683:A:CCA ERR:Parse ERR:Parse Identity +NM_001204.7:c.862dup NP_001195.2:p.Cys288fs NC_000002.12:202520095:T:TT p.(Cys288LeufsTer10) NC_000002.12:202520095:T:TT p.(Cys288LeufsTer10) ERR:SPDI Analogous +NM_020247.5:c.87C>G NP_064632.2:p.His29Gln NC_000001.11:226961471:C:G p.(His29Gln) NC_000001.11:226961471:C:G p.(His29Gln) NC_000001.11:226961471:C:G Identity +NM_177938.2:c.472C>G NP_808807.2:p.Leu158Val NC_000003.12:49001472:C:G p.(Leu158Val) NC_000003.12:49001472:C:G p.(Leu158Val) NC_000003.12:49001472:C:G Identity +NM_001346813.1:c.6355C>G NP_001333742.1:p.Gln2119Glu NC_000006.12:157207375:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000081.4:c.3401C>T NP_000072.2:p.Ser1134Phe NC_000001.11:235804657:G:A p.(Ser1134Phe) NC_000001.11:235804657:G:A p.(Ser1134Phe) NC_000001.11:235804657:G:A Identity +NM_001244808.3:c.761T>A NP_001231737.1:p.Leu254Gln NC_000003.12:71041435:A:T p.(Leu254Gln) NC_000003.12:71041435:A:T p.(Leu254Gln) NC_000003.12:71041435:A:T Identity +NM_001370598.1:c.2611G>A NP_001357527.1:p.Asp871Asn NC_000012.12:111322450:G:A p.(Asp871Asn) NC_000012.12:111322450:G:A p.(Asp871Asn) NC_000012.12:111322450:G:A Identity +NM_004370.6:c.7777C>T NP_004361.3:p.Pro2593Ser NC_000006.12:75113664:G:A p.(Pro2593Ser) NC_000006.12:75113664:G:A p.(Pro2593Ser) NC_000006.12:75113664:G:A Identity +NM_000248.4:c.970T>G NP_000239.1:p.Cys324Gly NC_000003.12:69964957:T:G p.(Cys324Gly) NC_000003.12:69964957:T:G p.(Cys324Gly) NC_000003.12:69964957:T:G Identity +NM_001145853.1:c.1174C>G NP_001139325.1:p.Gln392Glu NC_000004.12:6300968:C:G p.(Gln392Glu) NC_000004.12:6300968:C:G p.(Gln392Glu) NC_000004.12:6300968:C:G Identity +NM_001350748.2:c.5027T>C NP_001337677.1:p.Leu1676Pro NC_000013.11:101058021:A:G p.(Leu1676Pro) NC_000013.11:101058021:A:G p.(Leu1676Pro) NC_000013.11:101058021:A:G Identity +NM_004387.4:c.842C>T NP_004378.1:p.Ala281Val NC_000005.10:173232701:G:A p.(Ala281Val) NC_000005.10:173232701:G:A p.(Ala281Val) NC_000005.10:173232701:G:A Identity +NM_004387.4:c.572A>G NP_004378.1:p.Tyr191Cys NC_000005.10:173232971:T:C p.(Tyr191Cys) NC_000005.10:173232971:T:C p.(Tyr191Cys) NC_000005.10:173232971:T:C Identity +NM_001122769.3:c.1819_1820del NP_001116241.1:p.Gln607fs NC_000006.12:79487277:TGT:T p.(Gln607ValfsTer7) NC_000006.12:79487277:TGT:T p.(Gln607ValfsTer7) NC_000006.12:79487277:TG: Analogous +NM_001164313.2:c.367A>G NP_001157785.1:p.Lys123Glu NC_000006.12:109481659:T:C p.(Lys123Glu) NC_000006.12:109481659:T:C p.(Lys123Glu) NC_000006.12:109481659:T:C Identity +NM_001852.4:c.1142A>G NP_001843.1:p.Gln381Arg NC_000001.11:40304812:T:C p.(Gln381Arg) NC_000001.11:40304812:T:C p.(Gln381Arg) NC_000001.11:40304812:T:C Identity +NM_000492.4:c.164G>A NP_000483.3:p.Arg55Lys NC_000007.14:117504362:G:A p.(Arg55Lys) NC_000007.14:117504362:G:A p.(Arg55Lys) NC_000007.14:117504362:G:A Identity +NM_001346599.2:c.973G>T NP_001333528.1:p.Asp325Tyr NC_000007.14:105550359:G:T p.(Asp325Tyr) NC_000007.14:105550359:G:T p.(Asp325Tyr) NC_000007.14:105550359:G:T Identity +NM_014510.3:c.1155G>T NP_055325.2:p.Gln385His NC_000007.14:83155485:C:A p.(Gln385His) NC_000007.14:83155485:C:A p.(Gln385His) NC_000007.14:83155485:C:A Identity +NM_017780.4:c.7824T>A NP_060250.2:p.Tyr2608Ter NC_000008.11:60861118:T:A p.(Tyr2608Ter) NC_000008.11:60861118:T:A p.(Tyr2608Ter) NC_000008.11:60861118:T:A Identity +NM_001322194.2:c.2600G>A NP_001309123.1:p.Arg867Gln NC_000009.12:5089701:G:A p.(Arg867Gln) NC_000009.12:5089701:G:A p.(Arg867Gln) NC_000009.12:5089701:G:A Identity +NM_003880.4:c.197G>A NP_003871.1:p.Ser66Asn NC_000006.12:112061138:G:A p.(Ser66Asn) NC_000006.12:112061138:G:A p.(Ser66Asn) NC_000006.12:112061138:G:A Identity +NM_007215.4:c.65G>C NP_009146.2:p.Gly22Ala NC_000017.11:64496903:C:G p.(Gly22Ala) NC_000017.11:64496903:C:G p.(Gly22Ala) NC_000017.11:64496903:C:G Identity +NM_000290.4:c.29G>A NP_000281.2:p.Arg10Gln NC_000007.14:44065500:C:T p.(Arg10Gln) NC_000007.14:44065500:C:T p.(Arg10Gln) NC_000007.14:44065500:C:T Identity +NM_001261406.2:c.3685C>T NP_001248335.1:p.Arg1229Trp NC_000009.12:13147603:G:A p.(Arg1229Trp) NC_000009.12:13147603:G:A p.(Arg1229Trp) NC_000009.12:13147603:G:A Identity +NM_014141.6:c.2647C>T NP_054860.1:p.His883Tyr NC_000007.14:148147582:C:T p.(His883Tyr) NC_000007.14:148147582:C:T p.(His883Tyr) NC_000007.14:148147582:C:T Identity +NM_000280.6:c.277G>T NP_000271.1:p.Glu93Ter NC_000011.10:31801640:C:A p.(Glu93Ter) NC_000011.10:31801640:C:A p.(Glu93Ter) NC_000011.10:31801640:C:A Identity +NM_000401.3:c.709del NP_000392.3:p.Asp237fs NC_000011.10:44109265:GG:G p.(Asp237MetfsTer66) NC_000011.10:44109265:GG:G p.(Asp237MetfsTer66) NC_000011.10:44109266:G: Analogous +NM_000256.3:c.2545_2550delinsTCAT NP_000247.2:p.Val849fs NC_000011.10:47337442:GTTGAC:ATGA p.(Asn850IlefsTer33) NC_000011.10:47337441:CGTTGAC:CATGA p.(Val849SerfsTer34) NC_000011.10:47337442:GTTGAC:ATGA Analogous +NM_005055.5:c.358del NP_005046.2:p.Gln120fs NC_000011.10:47447984:GGG:GG p.(Gln120SerfsTer8) NC_000011.10:47447984:GGG:GG p.(Gln120SerfsTer8) NC_000011.10:47447984:G: Analogous +NM_001367634.1:c.461A>G NP_001354563.1:p.Asp154Gly NC_000007.14:843214:A:G p.(Asp154Gly) NC_000007.14:843214:A:G p.(Asp154Gly) NC_000007.14:843214:A:G Identity +NM_001844.5:c.123T>A NP_001835.3:p.Tyr41Ter NC_000012.12:48000087:A:T p.(Tyr41Ter) NC_000012.12:48000087:A:T p.(Tyr41Ter) NC_000012.12:48000087:A:T Identity +NM_004667.6:c.1252C>T NP_004658.3:p.His418Tyr NC_000015.10:28270699:G:A p.(His418Tyr) NC_000015.10:28270699:G:A p.(His418Tyr) NC_000015.10:28270699:G:A Identity +NM_001413913.1:c.539G>A NP_001400842.1:p.Arg180His NC_000012.12:11869501:G:A p.(Arg180His) NC_000012.12:11869501:G:A p.(Arg180His) NC_000012.12:11869501:G:A Identity +NM_000346.4:c.77T>A NP_000337.1:p.Met26Lys NC_000017.11:72121467:T:A p.(Met26Lys) NC_000017.11:72121467:T:A p.(Met26Lys) NC_000017.11:72121467:T:A Identity +NM_001385110.1:c.1543G>A NP_001372039.1:p.Gly515Arg NC_000012.12:56348923:C:T p.(Gly515Arg) NC_000012.12:56348923:C:T p.(Gly515Arg) NC_000012.12:56348923:C:T Identity +NM_001252020.2:c.2258T>C NP_001238949.1:p.Leu753Pro NC_000015.10:31040226:A:G p.(Leu753Pro) NC_000015.10:31040226:A:G p.(Leu753Pro) NC_000015.10:31040226:A:G Identity +NM_000165.5:c.461C>A NP_000156.1:p.Thr154Asn NC_000006.12:121447307:C:A p.(Thr154Asn) NC_000006.12:121447307:C:A p.(Thr154Asn) NC_000006.12:121447307:C:A Identity +NM_000277.3:c.211C>T NP_000268.1:p.Arg71Cys NC_000012.12:102894875:G:A p.(Arg71Cys) NC_000012.12:102894875:G:A p.(Arg71Cys) NC_000012.12:102894875:G:A Identity +NM_000059.4:c.5806_5807del NP_000050.3:p.Met1936fs NC_000013.11:32340158:ATAT:AT p.(Met1936ValfsTer8) NC_000013.11:32340158:ATAT:AT p.(Met1936ValfsTer8) NC_000013.11:32340160:AT: Analogous +NM_152443.3:c.697_698dup NP_689656.2:p.Arg234fs NC_000014.9:67729228:GT:GTGT p.(Arg234SerfsTer45) NC_000014.9:67729228:GT:GTGT p.(Arg234SerfsTer45) ERR:SPDI Analogous +NM_000153.4:c.392G>A NP_000144.2:p.Trp131Ter NC_000014.9:87986538:C:T p.(Trp131Ter) NC_000014.9:87986538:C:T p.(Trp131Ter) NC_000014.9:87986538:C:T Identity +NM_000059.4:c.3897_3901del NP_000050.3:p.Glu1299fs NC_000013.11:32338248:TGAAATGA:TGA p.(Glu1299AspfsTer7) NC_000013.11:32338248:TGAAATGA:TGA p.(Glu1299AspfsTer7) NC_000013.11:32338251:AATGA: Analogous +NM_001142279.2:c.128C>A NP_001135751.1:p.Pro43His NC_000013.11:50927469:C:A p.(Pro43His) NC_000013.11:50927469:C:A p.(Pro43His) NC_000013.11:50927469:C:A Identity +NM_001349346.2:c.644G>A NP_001336275.1:p.Arg215Gln NC_000008.11:37775933:G:A p.(Arg215Gln) NC_000008.11:37775933:G:A p.(Arg215Gln) NC_000008.11:37775933:G:A Identity +NM_019098.5:c.398A>C NP_061971.3:p.His133Pro NC_000008.11:86671038:T:G p.(His133Pro) NC_000008.11:86671038:T:G p.(His133Pro) NC_000008.11:86671038:T:G Identity +NM_001113755.3:c.26C>G NP_001107227.1:p.Thr9Ser NC_000022.11:50529683:G:C p.(Thr9Ser) NC_000022.11:50529683:G:C p.(Thr9Ser) NC_000022.11:50529683:G:C Identity +NM_000151.4:c.238T>A NP_000142.2:p.Phe80Ile NC_000017.11:42903937:T:A p.(Phe80Ile) NC_000017.11:42903937:T:A p.(Phe80Ile) NC_000017.11:42903937:T:A Identity +NM_001369.3:c.1206T>G NP_001360.1:p.Asn402Lys NC_000005.10:13914633:A:C p.(Asn402Lys) NC_000005.10:13914633:A:C p.(Asn402Lys) NC_000005.10:13914633:A:C Identity +NM_000118.4:c.1414C>T NP_000109.1:p.Gln472Ter NC_000009.12:127818729:G:A p.(Gln472Ter) NC_000009.12:127818729:G:A p.(Gln472Ter) NC_000009.12:127818729:G:A Identity +NM_001171933.1:c.2769G>A NP_001165404.1:p.Trp923Ter NC_000010.11:71812587:G:A p.(Trp923Ter) NC_000010.11:71812587:G:A p.(Trp923Ter) NC_000010.11:71812587:G:A Identity +NM_000254.3:c.3341A>G NP_000245.2:p.Tyr1114Cys NC_000001.11:236894492:A:G p.(Tyr1114Cys) NC_000001.11:236894492:A:G p.(Tyr1114Cys) NC_000001.11:236894492:A:G Identity +NM_001371590.2:c.486A>G NP_001358519.1:p.Ile162Met NC_000004.12:127939929:T:C p.(Ile162Met) NC_000004.12:127939929:T:C p.(Ile162Met) NC_000004.12:127939929:T:C Identity +NM_001042692.3:c.1319C>T NP_001036157.1:p.Ala440Val NC_000002.12:63313263:G:A p.(Ala440Val) NC_000002.12:63313263:G:A p.(Ala440Val) NC_000002.12:63313263:G:A Identity +NM_001394062.1:c.21209G>A NP_001380991.1:p.Ser7070Asn NC_000001.11:39459097:G:A p.(Ser7070Asn) NC_000001.11:39459097:G:A p.(Ser7070Asn) NC_000001.11:39459097:G:A Identity +NM_001171.6:c.3976G>A NP_001162.5:p.Asp1326Asn NC_000016.10:16154937:C:T p.(Asp1326Asn) NC_000016.10:16154937:C:T p.(Asp1326Asn) NC_000016.10:16154937:C:T Identity +NM_003105.6:c.2416G>A NP_003096.2:p.Asp806Asn NC_000011.10:121554085:G:A p.(Asp806Asn) NC_000011.10:121554085:G:A p.(Asp806Asn) NC_000011.10:121554085:G:A Identity +NM_001844.5:c.1106G>A NP_001835.3:p.Gly369Asp NC_000012.12:47989243:C:T p.(Gly369Asp) NC_000012.12:47989243:C:T p.(Gly369Asp) NC_000012.12:47989243:C:T Identity +NM_015629.4:c.871G>C NP_056444.3:p.Ala291Pro NC_000019.10:54126542:G:C p.(Ala291Pro) NC_000019.10:54126542:G:C p.(Ala291Pro) NC_000019.10:54126542:G:C Identity +NM_000398.7:c.434C>T NP_000389.1:p.Pro145Leu NC_000022.11:42628180:G:A p.(Pro145Leu) NC_000022.11:42628180:G:A p.(Pro145Leu) NC_000022.11:42628180:G:A Identity +NM_000709.4:c.800A>G NP_000700.1:p.Asn267Ser NC_000019.10:41422316:A:G p.(Asn267Ser) NC_000019.10:41422316:A:G p.(Asn267Ser) NC_000019.10:41422316:A:G Identity +NM_000268.4:c.1625T>A NP_000259.1:p.Leu542His NC_000022.11:29681488:T:A p.(Leu542His) NC_000022.11:29681488:T:A p.(Leu542His) NC_000022.11:29681488:T:A Identity +NM_000382.3:c.1234G>A NP_000373.1:p.Gly412Arg NC_000017.11:19671746:G:A p.(Gly412Arg) NC_000017.11:19671746:G:A p.(Gly412Arg) NC_000017.11:19671746:G:A Identity +NM_000271.5:c.187T>C NP_000262.2:p.Cys63Arg NC_000018.10:23572173:A:G p.(Cys63Arg) NC_000018.10:23572173:A:G p.(Cys63Arg) NC_000018.10:23572173:A:G Identity +NM_001330437.2:c.784C>T NP_001317366.1:p.Leu262Phe NC_000012.12:112472970:C:T p.(Leu262Phe) NC_000012.12:112472970:C:T p.(Leu262Phe) NC_000012.12:112472970:C:T Identity +NM_001845.6:c.2578C>G NP_001836.3:p.Pro860Ala NC_000013.11:110178111:G:C p.(Pro860Ala) NC_000013.11:110178111:G:C p.(Pro860Ala) NC_000013.11:110178111:G:C Identity +NM_000533.5:c.674T>C NP_000524.3:p.Leu225Pro NC_000023.11:103788487:T:C p.(Leu225Pro) NC_000023.11:103788487:T:C p.(Leu225Pro) NC_000023.11:103788487:T:C Identity +NM_001110556.2:c.387C>G NP_001104026.1:p.Ile129Met NC_000023.11:154368076:G:C p.(Ile129Met) NC_000023.11:154368076:G:C p.(Ile129Met) NC_000023.11:154368076:G:C Identity +NM_000061.3:c.1864del NP_000052.1:p.Ala622fs NC_000023.11:101353237:CC:C p.(Ala622LeufsTer27) NC_000023.11:101353237:CC:C p.(Ala622LeufsTer27) NC_000023.11:101353237:C: Analogous +NM_000169.3:c.358C>G NP_000160.1:p.Leu120Val NC_000023.11:101403821:G:C p.(Leu120Val) NC_000023.11:101403821:G:C p.(Leu120Val) NC_000023.11:101403821:G:C Identity +NM_001174089.2:c.1108T>C NP_001167560.1:p.Cys370Arg NC_000020.11:3230992:A:G p.(Cys370Arg) NC_000020.11:3230992:A:G p.(Cys370Arg) NC_000020.11:3230992:A:G Identity +NM_001142864.4:c.5134G>A NP_001136336.2:p.Val1712Met NC_000016.10:88721887:C:T p.(Val1712Met) NC_000016.10:88721887:C:T p.(Val1712Met) NC_000016.10:88721887:C:T Identity +NM_000202.8:c.866C>T NP_000193.1:p.Pro289Leu NC_000023.11:149496358:G:A p.(Pro289Leu) NC_000023.11:149496358:G:A p.(Pro289Leu) NC_000023.11:149496358:G:A Identity +NM_000390.4:c.563_564del NP_000381.1:p.Val188fs NC_000023.11:85963802:CACACA:CACA p.(Val188AlafsTer10) NC_000023.11:85963802:CACACA:CACA p.(Val188AlafsTer10) NC_000023.11:85963802:CA: Analogous +NM_000169.3:c.44C>A NP_000160.1:p.Ala15Glu NC_000023.11:101407859:G:T p.(Ala15Glu) NC_000023.11:101407859:G:T p.(Ala15Glu) NC_000023.11:101407859:G:T Identity +NM_001411144.1:c.58C>T NP_001398073.1:p.Pro20Ser NC_000019.10:3585654:C:T p.(Pro20Ser) NC_000019.10:3585654:C:T p.(Pro20Ser) NC_000019.10:3585654:C:T Identity +NM_014510.3:c.7852C>T NP_055325.2:p.Pro2618Ser NC_000007.14:82953100:G:A p.(Pro2618Ser) NC_000007.14:82953100:G:A p.(Pro2618Ser) NC_000007.14:82953100:G:A Identity +NM_004646.4:c.3244G>A NP_004637.1:p.Gly1082Arg NC_000019.10:35831684:C:T p.(Gly1082Arg) NC_000019.10:35831684:C:T p.(Gly1082Arg) NC_000019.10:35831684:C:T Identity +NM_001039375.3:c.29T>A NP_001034464.1:p.Leu10Ter NC_000020.11:13785096:T:A p.(Leu10Ter) NC_000020.11:13785096:T:A p.(Leu10Ter) NC_000020.11:13785096:T:A Identity +NM_000454.5:c.401A>T NP_000445.1:p.Glu134Val NC_000021.9:31668513:A:T p.(Glu134Val) NC_000021.9:31668513:A:T p.(Glu134Val) NC_000021.9:31668513:A:T Identity +NM_000343.4:c.1403C>T NP_000334.1:p.Ala468Val NC_000022.11:32099304:C:T p.(Ala468Val) NC_000022.11:32099304:C:T p.(Ala468Val) NC_000022.11:32099304:C:T Identity +NM_000109.4:c.8644G>A NP_000100.3:p.Glu2882Lys NC_000023.11:31478982:C:T p.(Glu2882Lys) NC_000023.11:31478982:C:T p.(Glu2882Lys) NC_000023.11:31478982:C:T Identity +NM_000074.3:c.420G>C NP_000065.1:p.Trp140Cys NC_000023.11:136659048:G:C p.(Trp140Cys) NC_000023.11:136659048:G:C p.(Trp140Cys) NC_000023.11:136659048:G:C Identity +NM_000033.4:c.904G>A NP_000024.2:p.Glu302Lys NC_000023.11:153729234:G:A p.(Glu302Lys) NC_000023.11:153729234:G:A p.(Glu302Lys) NC_000023.11:153729234:G:A Identity +NM_000117.3:c.397C>T NP_000108.1:p.Gln133Ter NC_000023.11:154380364:C:T p.(Gln133Ter) NC_000023.11:154380364:C:T p.(Gln133Ter) NC_000023.11:154380364:C:T Identity +NM_001351059.2:c.529G>A NP_001337988.1:p.Gly177Ser NC_000011.10:68047763:G:A p.(Gly177Ser) NC_000011.10:68047763:G:A p.(Gly177Ser) NC_000011.10:68047763:G:A Identity +NM_001014797.3:c.2347G>A NP_001014797.1:p.Val783Ile NC_000010.11:76949341:C:T p.(Val783Ile) NC_000010.11:76949341:C:T p.(Val783Ile) NC_000010.11:76949341:C:T Identity +NM_001142519.3:c.1028C>T NP_001135991.1:p.Ser343Leu NC_000011.10:59152695:C:T p.(Ser343Leu) NC_000011.10:59152695:C:T p.(Ser343Leu) NC_000011.10:59152695:C:T Identity +NM_012213.3:c.826G>C NP_036345.2:p.Glu276Gln NC_000016.10:83912244:G:C p.(Glu276Gln) NC_000016.10:83912244:G:C p.(Glu276Gln) NC_000016.10:83912244:G:C Identity +NM_001127897.4:c.2563T>C NP_001121369.1:p.Tyr855His NC_000016.10:53645744:A:G p.(Tyr855His) NC_000016.10:53645744:A:G p.(Tyr855His) NC_000016.10:53645744:A:G Identity +NM_001278055.2:c.12719T>A NP_001264984.1:p.Phe4240Tyr NC_000013.11:23330715:A:T p.(Phe4240Tyr) NC_000013.11:23330715:A:T p.(Phe4240Tyr) NC_000013.11:23330715:A:T Identity +NM_001278649.3:c.355G>A NP_001265578.1:p.Val119Met NC_000020.11:62279295:G:A p.(Val119Met) NC_000020.11:62279295:G:A p.(Val119Met) NC_000020.11:62279295:G:A Identity +NM_001198798.2:c.960G>T NP_001185727.1:p.Leu320Phe NC_000010.11:72097447:C:A p.(Leu320Phe) NC_000010.11:72097447:C:A p.(Leu320Phe) NC_000010.11:72097447:C:A Identity +NM_001277961.3:c.1942C>A NP_001264890.1:p.Arg648Ser NC_000011.10:4091363:C:A p.(Arg648Ser) NC_000011.10:4091363:C:A p.(Arg648Ser) NC_000011.10:4091363:C:A Identity +NM_000536.4:c.376G>C NP_000527.2:p.Glu126Gln NC_000011.10:36593792:C:G p.(Glu126Gln) NC_000011.10:36593792:C:G p.(Glu126Gln) NC_000011.10:36593792:C:G Identity +NM_000271.5:c.2338G>A NP_000262.2:p.Val780Met NC_000018.10:23541340:C:T p.(Val780Met) NC_000018.10:23541340:C:T p.(Val780Met) NC_000018.10:23541340:C:T Identity +NM_001201543.2:c.1543G>A NP_001188472.1:p.Val515Met NC_000002.12:61839460:C:T p.(Val515Met) NC_000002.12:61839460:C:T p.(Val515Met) NC_000002.12:61839460:C:T Identity +NM_000562.3:c.848A>G NP_000553.1:p.Asn283Ser NC_000001.11:56883673:A:G p.(Asn283Ser) NC_000001.11:56883673:A:G p.(Asn283Ser) NC_000001.11:56883673:A:G Identity +NM_001127892.2:c.1663G>A NP_001121364.1:p.Ala555Thr NC_000016.10:51140267:C:T p.(Ala555Thr) NC_000016.10:51140267:C:T p.(Ala555Thr) NC_000016.10:51140267:C:T Identity +NM_000232.5:c.569A>G NP_000223.1:p.His190Arg NC_000004.12:52028781:T:C p.(His190Arg) NC_000004.12:52028781:T:C p.(His190Arg) NC_000004.12:52028781:T:C Identity +NM_004974.4:c.1445G>A NP_004965.1:p.Cys482Tyr NC_000001.11:110603337:C:T p.(Cys482Tyr) NC_000001.11:110603337:C:T p.(Cys482Tyr) NC_000001.11:110603337:C:T Identity +NM_000152.5:c.2064C>A NP_000143.2:p.Ser688Arg NC_000017.11:80113240:C:A p.(Ser688Arg) NC_000017.11:80113240:C:A p.(Ser688Arg) NC_000017.11:80113240:C:A Identity +NM_001199579.2:c.309G>T NP_001186508.1:p.Arg103Ser NC_000022.11:38751012:C:A p.(Arg103Ser) NC_000022.11:38751012:C:A p.(Arg103Ser) NC_000022.11:38751012:C:A Identity +NM_001286577.2:c.2662C>T NP_001273506.1:p.Arg888Trp NC_000011.10:74100594:G:A p.(Arg888Trp) NC_000011.10:74100594:G:A p.(Arg888Trp) NC_000011.10:74100594:G:A Identity +NM_001365940.2:c.376G>T NP_001352869.1:p.Val126Phe NC_000003.12:139517658:C:A p.(Val126Phe) NC_000003.12:139517658:C:A p.(Val126Phe) NC_000003.12:139517658:C:A Identity +NM_001308093.3:c.34G>T NP_001295022.1:p.Gly12Trp NC_000008.11:11708345:G:T p.(Gly12Trp) NC_000008.11:11708345:G:T p.(Gly12Trp) NC_000008.11:11708345:G:T Identity +NM_001277115.2:c.7729G>A NP_001264044.1:p.Asp2577Asn NC_000007.14:21738783:G:A p.(Asp2577Asn) NC_000007.14:21738783:G:A p.(Asp2577Asn) NC_000007.14:21738783:G:A Identity +NM_003362.4:c.647C>T NP_003353.1:p.Ser216Phe NC_000012.12:109103483:C:T p.(Ser216Phe) NC_000012.12:109103483:C:T p.(Ser216Phe) NC_000012.12:109103483:C:T Identity +NM_001126131.2:c.3686G>C NP_001119603.1:p.Gly1229Ala NC_000015.10:89316784:C:G p.(Gly1229Ala) NC_000015.10:89316784:C:G p.(Gly1229Ala) NC_000015.10:89316784:C:G Identity +NM_001244189.2:c.2645C>A NP_001231118.1:p.Ala882Asp NC_000014.9:58470655:C:A p.(Ala882Asp) NC_000014.9:58470655:C:A p.(Ala882Asp) NC_000014.9:58470655:C:A Identity +NM_000094.4:c.2368G>A NP_000085.1:p.Asp790Asn NC_000003.12:48588941:C:T p.(Asp790Asn) NC_000003.12:48588941:C:T p.(Asp790Asn) NC_000003.12:48588941:C:T Identity +NM_001286506.2:c.262G>A NP_001273435.1:p.Gly88Ser NC_000021.9:42485793:C:T p.(Gly88Ser) NC_000021.9:42485793:C:T p.(Gly88Ser) NC_000021.9:42485793:C:T Identity +NM_001371271.1:c.2213A>G NP_001358200.1:p.Lys738Arg NC_000002.12:120986533:A:G p.(Lys738Arg) NC_000002.12:120986533:A:G p.(Lys738Arg) NC_000002.12:120986533:A:G Identity +NM_001111.5:c.320G>T NP_001102.3:p.Gly107Val NC_000001.11:154602321:C:A p.(Gly107Val) NC_000001.11:154602321:C:A p.(Gly107Val) NC_000001.11:154602321:C:A Identity +NM_000290.4:c.485G>A NP_000281.2:p.Arg162Gln NC_000007.14:44064941:C:T p.(Arg162Gln) NC_000007.14:44064941:C:T p.(Arg162Gln) NC_000007.14:44064941:C:T Identity +NM_001042663.3:c.2013C>A NP_001036128.2:p.Asp671Glu NC_000001.11:6469574:G:T p.(Asp671Glu) NC_000001.11:6469574:G:T p.(Asp671Glu) NC_000001.11:6469574:G:T Identity +NM_001352253.3:c.308T>G NP_001339182.1:p.Ile103Ser NC_000013.11:110701522:A:C p.(Ile103Ser) NC_000013.11:110701522:A:C p.(Ile103Ser) NC_000013.11:110701522:A:C Identity +NM_001278055.2:c.7976T>C NP_001264984.1:p.Met2659Thr NC_000013.11:23335458:A:G p.(Met2659Thr) NC_000013.11:23335458:A:G p.(Met2659Thr) NC_000013.11:23335458:A:G Identity +NM_000094.4:c.6356C>T NP_000085.1:p.Pro2119Leu NC_000003.12:48574713:G:A p.(Pro2119Leu) NC_000003.12:48574713:G:A p.(Pro2119Leu) NC_000003.12:48574713:G:A Identity +NM_001077653.2:c.646C>T NP_001071121.1:p.His216Tyr NC_000007.14:35244956:G:A p.(His216Tyr) NC_000007.14:35244956:G:A p.(His216Tyr) NC_000007.14:35244956:G:A Identity +NM_000384.3:c.6892T>A NP_000375.3:p.Leu2298Ile NC_000002.12:21009975:A:T p.(Leu2298Ile) NC_000002.12:21009975:A:T p.(Leu2298Ile) NC_000002.12:21009975:A:T Identity +NM_000391.4:c.1438G>A NP_000382.3:p.Val480Met NC_000011.10:6614978:C:T p.(Val480Met) NC_000011.10:6614978:C:T p.(Val480Met) NC_000011.10:6614978:C:T Identity +NM_007347.5:c.29C>T NP_031373.2:p.Thr10Met NC_000015.10:50908806:C:T p.(Thr10Met) NC_000015.10:50908806:C:T p.(Thr10Met) NC_000015.10:50908806:C:T Identity +NM_000548.5:c.2416G>T NP_000539.2:p.Val806Leu NC_000016.10:2074259:G:T p.(Val806Leu) NC_000016.10:2074259:G:T p.(Val806Leu) NC_000016.10:2074259:G:T Identity +NM_001122633.3:c.3010C>T NP_001116105.2:p.Arg1004Cys NC_000002.12:210642533:C:T p.(Arg1004Cys) NC_000002.12:210642533:C:T p.(Arg1004Cys) NC_000002.12:210642533:C:T Identity +NM_001252678.2:c.281T>G NP_001239607.1:p.Val94Gly NC_000015.10:72731389:T:G p.(Val94Gly) NC_000015.10:72731389:T:G p.(Val94Gly) NC_000015.10:72731389:T:G Identity +NM_001354705.2:c.2408G>A NP_001341634.1:p.Arg803Gln NC_000012.12:57581091:G:A p.(Arg803Gln) NC_000012.12:57581091:G:A p.(Arg803Gln) NC_000012.12:57581091:G:A Identity +NM_001127671.2:c.287C>A NP_001121143.1:p.Thr96Asn NC_000005.10:38527264:G:T p.(Thr96Asn) NC_000005.10:38527264:G:T p.(Thr96Asn) NC_000005.10:38527264:G:T Identity +NM_000094.4:c.2477C>T NP_000085.1:p.Thr826Ile NC_000003.12:48588751:G:A p.(Thr826Ile) NC_000003.12:48588751:G:A p.(Thr826Ile) NC_000003.12:48588751:G:A Identity +NM_000044.6:c.1040T>G NP_000035.2:p.Leu347Arg NC_000023.11:67546185:T:G p.(Leu347Arg) NC_000023.11:67546185:T:G p.(Leu347Arg) NC_000023.11:67546185:T:G Identity +NM_000328.3:c.1393C>G NP_000319.1:p.Leu465Val NC_000023.11:38297304:G:C p.(Leu465Val) NC_000023.11:38297304:G:C p.(Leu465Val) NC_000023.11:38297304:G:C Identity +NM_003849.4:c.178T>A NP_003840.2:p.Cys60Ser NC_000002.12:84449671:A:T p.(Cys60Ser) NC_000002.12:84449671:A:T p.(Cys60Ser) NC_000002.12:84449671:A:T Identity +NM_001166419.2:c.383A>T NP_001159891.1:p.Asp128Val NC_000023.11:72567942:T:A p.(Asp128Val) NC_000023.11:72567942:T:A p.(Asp128Val) NC_000023.11:72567942:T:A Identity +NM_000124.4:c.2981G>A NP_000115.1:p.Arg994Gln NC_000010.11:49471063:C:T p.(Arg994Gln) NC_000010.11:49471063:C:T p.(Arg994Gln) NC_000010.11:49471063:C:T Identity +NM_001130455.2:c.584C>A NP_001123927.1:p.Pro195Gln NC_000002.12:71513838:C:A p.(Pro195Gln) NC_000002.12:71513838:C:A p.(Pro195Gln) NC_000002.12:71513838:C:A Identity +NM_001411020.1:c.2411T>C NP_001397949.1:p.Ile804Thr NC_000014.9:50145326:A:G p.(Ile804Thr) NC_000014.9:50145326:A:G p.(Ile804Thr) NC_000014.9:50145326:A:G Identity +NM_001297764.2:c.1338C>G NP_001284693.1:p.Asp446Glu NC_000011.10:17501135:G:C p.(Asp446Glu) NC_000011.10:17501135:G:C p.(Asp446Glu) NC_000011.10:17501135:G:C Identity +NM_001363626.2:c.197C>T NP_001350555.1:p.Pro66Leu NC_000005.10:174724855:C:T p.(Pro66Leu) NC_000005.10:174724855:C:T p.(Pro66Leu) NC_000005.10:174724855:C:T Identity +NM_030665.4:c.2005G>A NP_109590.3:p.Asp669Asn NC_000017.11:17794952:G:A p.(Asp669Asn) NC_000017.11:17794952:G:A p.(Asp669Asn) NC_000017.11:17794952:G:A Identity +NM_001033604.2:c.101G>A NP_001028776.1:p.Gly34Glu NC_000007.14:33146352:G:A p.(Gly34Glu) NC_000007.14:33146352:G:A p.(Gly34Glu) NC_000007.14:33146352:G:A Identity +NM_012463.4:c.2449G>A NP_036595.2:p.Ala817Thr NC_000012.12:123756969:G:A p.(Ala817Thr) NC_000012.12:123756969:G:A p.(Ala817Thr) NC_000012.12:123756969:G:A Identity +NM_000263.4:c.44T>C NP_000254.2:p.Leu15Pro NC_000017.11:42536315:T:C p.(Leu15Pro) NC_000017.11:42536315:T:C p.(Leu15Pro) NC_000017.11:42536315:T:C Identity +NM_000053.4:c.437A>G NP_000044.2:p.Lys146Arg NC_000013.11:51974782:T:C p.(Lys146Arg) NC_000013.11:51974782:T:C p.(Lys146Arg) NC_000013.11:51974782:T:C Identity +NM_000182.5:c.13C>T NP_000173.2:p.Arg5Trp NC_000002.12:26244583:G:A p.(Arg5Trp) NC_000002.12:26244583:G:A p.(Arg5Trp) NC_000002.12:26244583:G:A Identity +NM_001195728.3:c.1599C>A NP_001182657.1:p.His533Gln NC_000011.10:35265553:G:T p.(His533Gln) NC_000011.10:35265553:G:T p.(His533Gln) NC_000011.10:35265553:G:T Identity +NM_005045.4:c.7270T>C NP_005036.2:p.Tyr2424His NC_000007.14:103535394:A:G p.(Tyr2424His) NC_000007.14:103535394:A:G p.(Tyr2424His) NC_000007.14:103535394:A:G Identity +NM_001410800.1:c.670G>A NP_001397729.1:p.Asp224Asn NC_000003.12:111579152:G:A p.(Asp224Asn) NC_000003.12:111579152:G:A p.(Asp224Asn) NC_000003.12:111579152:G:A Identity +NM_024753.5:c.3935C>T NP_079029.3:p.Ala1312Val NC_000002.12:165874770:G:A p.(Ala1312Val) NC_000002.12:165874770:G:A p.(Ala1312Val) NC_000002.12:165874770:G:A Identity +NM_001113378.2:c.805G>A NP_001106849.1:p.Gly269Ser NC_000015.10:89268447:G:A p.(Gly269Ser) NC_000015.10:89268447:G:A p.(Gly269Ser) NC_000015.10:89268447:G:A Identity +NM_001008537.3:c.2537C>T NP_001008537.1:p.Thr846Ile NC_000023.11:74742019:G:A p.(Thr846Ile) NC_000023.11:74742019:G:A p.(Thr846Ile) NC_000023.11:74742019:G:A Identity +NM_000540.3:c.3334G>A NP_000531.2:p.Val1112Ile NC_000019.10:38467764:G:A p.(Val1112Ile) NC_000019.10:38467764:G:A p.(Val1112Ile) NC_000019.10:38467764:G:A Identity +NM_001018113.3:c.1727A>G NP_001018123.1:p.Gln576Arg NC_000023.11:14845055:T:C p.(Gln576Arg) NC_000023.11:14845055:T:C p.(Gln576Arg) NC_000023.11:14845055:T:C Identity +NM_001143850.3:c.200C>G NP_001137322.1:p.Pro67Arg NC_000012.12:123672064:C:G p.(Pro67Arg) NC_000012.12:123672064:C:G p.(Pro67Arg) NC_000012.12:123672064:C:G Identity +NM_001330358.2:c.517C>T NP_001317287.1:p.Arg173Cys NC_000001.11:11801241:G:A p.(Arg173Cys) NC_000001.11:11801241:G:A p.(Arg173Cys) NC_000001.11:11801241:G:A Identity +NM_000096.4:c.2377C>T NP_000087.2:p.Arg793Cys NC_000003.12:149183513:G:A p.(Arg793Cys) NC_000003.12:149183513:G:A p.(Arg793Cys) NC_000003.12:149183513:G:A Identity +NM_001291556.2:c.1429C>T NP_001278485.1:p.Arg477Trp NC_000014.9:24103871:C:T p.(Arg477Trp) NC_000014.9:24103871:C:T p.(Arg477Trp) NC_000014.9:24103871:C:T Identity +NM_001379200.1:c.1067G>A NP_001366129.1:p.Arg356His NC_000022.11:19766418:G:A p.(Arg356His) NC_000022.11:19766418:G:A p.(Arg356His) NC_000022.11:19766418:G:A Identity +NM_001377948.1:c.1360C>T NP_001364877.1:p.Arg454Trp NC_000014.9:21325896:C:T p.(Arg454Trp) NC_000014.9:21325896:C:T p.(Arg454Trp) NC_000014.9:21325896:C:T Identity +NM_001018113.3:c.554G>T NP_001018123.1:p.Gly185Val NC_000023.11:14864956:C:A p.(Gly185Val) NC_000023.11:14864956:C:A p.(Gly185Val) NC_000023.11:14864956:C:A Identity +NM_000124.4:c.4153G>A NP_000115.1:p.Ala1385Thr NC_000010.11:49459143:C:T p.(Ala1385Thr) NC_000010.11:49459143:C:T p.(Ala1385Thr) NC_000010.11:49459143:C:T Identity +NM_001320641.2:c.1108G>A NP_001307570.1:p.Val370Met NC_000002.12:127053942:C:T p.(Val370Met) NC_000002.12:127053942:C:T p.(Val370Met) NC_000002.12:127053942:C:T Identity +NM_015135.3:c.189G>C NP_055950.2:p.Gln63His NC_000007.14:135573670:G:C p.(Gln63His) NC_000007.14:135573670:G:C p.(Gln63His) NC_000007.14:135573670:G:C Identity +NM_207361.6:c.5294G>A NP_997244.4:p.Arg1765His NC_000013.11:38764333:G:A p.(Arg1765His) NC_000013.11:38764333:G:A p.(Arg1765His) NC_000013.11:38764333:G:A Identity +NM_024753.5:c.887G>A NP_079029.3:p.Ser296Asn NC_000002.12:165931764:C:T p.(Ser296Asn) NC_000002.12:165931764:C:T p.(Ser296Asn) NC_000002.12:165931764:C:T Identity +NM_001378355.1:c.311T>C NP_001365284.1:p.Met104Thr NC_000019.10:49828453:T:C p.(Met104Thr) NC_000019.10:49828453:T:C p.(Met104Thr) NC_000019.10:49828453:T:C Identity +NM_139318.5:c.1096A>G NP_647479.2:p.Ile366Val NC_000014.9:62950405:T:C p.(Ile366Val) NC_000014.9:62950405:T:C p.(Ile366Val) NC_000014.9:62950405:T:C Identity +NM_021032.5:c.107A>T NP_066360.1:p.Asp36Val NC_000003.12:192408116:T:A p.(Asp36Val) NC_000003.12:192408116:T:A p.(Asp36Val) NC_000003.12:192408116:T:A Identity +NM_001410709.1:c.385C>T NP_001397638.1:p.Pro129Ser NC_000001.11:1212689:G:A p.(Pro129Ser) NC_000001.11:1212689:G:A p.(Pro129Ser) NC_000001.11:1212689:G:A Identity +NM_001080449.3:c.1675T>G NP_001073918.2:p.Leu559Val NC_000010.11:68432481:A:C p.(Leu559Val) NC_000010.11:68432481:A:C p.(Leu559Val) NC_000010.11:68432481:A:C Identity +NM_000353.3:c.74G>T NP_000344.1:p.Gly25Val NC_000016.10:71576341:C:A p.(Gly25Val) NC_000016.10:71576341:C:A p.(Gly25Val) NC_000016.10:71576341:C:A Identity +NM_000098.3:c.1304A>C NP_000089.1:p.Asp435Ala NC_000001.11:53210977:A:C p.(Asp435Ala) NC_000001.11:53210977:A:C p.(Asp435Ala) NC_000001.11:53210977:A:C Identity +NM_001130066.2:c.3392A>G NP_001123538.1:p.Asn1131Ser NC_000006.12:33444468:A:G p.(Asn1131Ser) NC_000006.12:33444468:A:G p.(Asn1131Ser) NC_000006.12:33444468:A:G Identity +NM_000271.5:c.3562G>C NP_000262.2:p.Glu1188Gln NC_000018.10:23534474:C:G p.(Glu1188Gln) NC_000018.10:23534474:C:G p.(Glu1188Gln) NC_000018.10:23534474:C:G Identity +NM_001605.3:c.465C>G NP_001596.2:p.Ile155Met NC_000016.10:70276499:G:C p.(Ile155Met) NC_000016.10:70276499:G:C p.(Ile155Met) NC_000016.10:70276499:G:C Identity +NM_001384474.1:c.3299C>A NP_001371403.1:p.Ala1100Glu NC_000018.10:46557406:G:T p.(Ala1100Glu) NC_000018.10:46557406:G:T p.(Ala1100Glu) NC_000018.10:46557406:G:T Identity +NM_206933.4:c.5644G>A NP_996816.3:p.Gly1882Ser NC_000001.11:216073228:C:T p.(Gly1882Ser) NC_000001.11:216073228:C:T p.(Gly1882Ser) NC_000001.11:216073228:C:T Identity +NM_001135651.3:c.575C>G NP_001129123.1:p.Ser192Cys NC_000002.12:37138526:G:C p.(Ser192Cys) NC_000002.12:37138526:G:C p.(Ser192Cys) NC_000002.12:37138526:G:C Identity +NM_018973.4:c.194A>G NP_061846.2:p.Gln65Arg NC_000001.11:155140136:T:C p.(Gln65Arg) NC_000001.11:155140136:T:C p.(Gln65Arg) NC_000001.11:155140136:T:C Identity +NM_001172631.3:c.1651G>A NP_001166102.1:p.Glu551Lys NC_000014.9:102434467:G:A p.(Glu551Lys) NC_000014.9:102434467:G:A p.(Glu551Lys) NC_000014.9:102434467:G:A Identity +NM_005251.3:c.1093C>T NP_005242.1:p.Pro365Ser NC_000016.10:86568427:C:T p.(Pro365Ser) NC_000016.10:86568427:C:T p.(Pro365Ser) NC_000016.10:86568427:C:T Identity +NM_015681.6:c.608C>T NP_056496.1:p.Pro203Leu NC_000017.11:19343325:G:A p.(Pro203Leu) NC_000017.11:19343325:G:A p.(Pro203Leu) NC_000017.11:19343325:G:A Identity +NM_001190720.3:c.2071G>A NP_001177649.2:p.Ala691Thr NC_000008.11:42330970:G:A p.(Ala691Thr) NC_000008.11:42330970:G:A p.(Ala691Thr) NC_000008.11:42330970:G:A Identity +NM_139025.5:c.1691C>A NP_620594.1:p.Ala564Asp NC_000009.12:133438351:C:A p.(Ala564Asp) NC_000009.12:133438351:C:A p.(Ala564Asp) NC_000009.12:133438351:C:A Identity +NM_001042494.2:c.1043G>T NP_001035959.1:p.Gly348Val NC_000015.10:34252282:C:A p.(Gly348Val) NC_000015.10:34252282:C:A p.(Gly348Val) NC_000015.10:34252282:C:A Identity +NM_001112808.3:c.2189G>A NP_001106279.3:p.Arg730His NC_000001.11:74439496:G:A p.(Arg730His) NC_000001.11:74439496:G:A p.(Arg730His) NC_000001.11:74439496:G:A Identity +NM_000751.3:c.967G>T NP_000742.1:p.Val323Phe NC_000002.12:232531575:G:T p.(Val323Phe) NC_000002.12:232531575:G:T p.(Val323Phe) NC_000002.12:232531575:G:T Identity +NM_000520.6:c.203A>G NP_000511.2:p.Tyr68Cys NC_000015.10:72375769:T:C p.(Tyr68Cys) NC_000015.10:72375769:T:C p.(Tyr68Cys) NC_000015.10:72375769:T:C Identity +NM_001256849.1:c.370_382dup NP_001243778.1:p.Phe128fs NC_000019.10:50401826:GCCTGTGCTCCGCGCCT:GCCTGTGCTCCGCGCCTGTGCTCCGCGCCT p.(Phe128CysfsTer10) NC_000019.10:50401826:GCCTGTGCTCCGCGCCT:GCCTGTGCTCCGCGCCTGTGCTCCGCGCCT p.(Phe128CysfsTer10) ERR:SPDI Analogous +NM_015102.5:c.245C>T NP_055917.1:p.Thr82Met NC_000001.11:5978303:G:A p.(Thr82Met) NC_000001.11:5978303:G:A p.(Thr82Met) NC_000001.11:5978303:G:A Identity +NM_012414.4:c.1367A>G NP_036546.2:p.Gln456Arg NC_000001.11:220191187:T:C p.(Gln456Arg) NC_000001.11:220191187:T:C p.(Gln456Arg) NC_000001.11:220191187:T:C Identity +NM_001303110.2:c.46C>G NP_001290039.1:p.Leu16Val NC_000013.11:110306981:G:C p.(Leu16Val) NC_000013.11:110306981:G:C p.(Leu16Val) NC_000013.11:110306981:G:C Identity +NM_000760.4:c.2074C>T NP_000751.1:p.Pro692Ser NC_000001.11:36466793:G:A p.(Pro692Ser) NC_000001.11:36466793:G:A p.(Pro692Ser) NC_000001.11:36466793:G:A Identity +NM_001376.5:c.13227G>T NP_001367.2:p.Leu4409Phe NC_000014.9:102048523:G:T p.(Leu4409Phe) NC_000014.9:102048523:G:T p.(Leu4409Phe) NC_000014.9:102048523:G:T Identity +NM_001304420.3:c.1207G>A NP_001291349.1:p.Gly403Ser NC_000003.12:57871655:G:A p.(Gly403Ser) NC_000003.12:57871655:G:A p.(Gly403Ser) NC_000003.12:57871655:G:A Identity +NM_000199.5:c.1153C>T NP_000190.1:p.Arg385Cys NC_000017.11:80210807:G:A p.(Arg385Cys) NC_000017.11:80210807:G:A p.(Arg385Cys) NC_000017.11:80210807:G:A Identity +NM_000411.8:c.1495G>A NP_000402.3:p.Ala499Thr NC_000021.9:36767241:C:T p.(Ala499Thr) NC_000021.9:36767241:C:T p.(Ala499Thr) NC_000021.9:36767241:C:T Identity +NM_001005207.5:c.2353C>T NP_001005207.1:p.Arg785Cys NC_000017.11:59017328:G:A p.(Arg785Cys) NC_000017.11:59017328:G:A p.(Arg785Cys) NC_000017.11:59017328:G:A Identity +NM_001244189.2:c.2945T>C NP_001231118.1:p.Ile982Thr NC_000014.9:58474757:T:C p.(Ile982Thr) NC_000014.9:58474757:T:C p.(Ile982Thr) NC_000014.9:58474757:T:C Identity +NM_000260.4:c.2801A>G NP_000251.3:p.His934Arg NC_000011.10:77181485:A:G p.(His934Arg) NC_000011.10:77181485:A:G p.(His934Arg) NC_000011.10:77181485:A:G Identity +NM_001126131.2:c.3188G>A NP_001119603.1:p.Ser1063Asn NC_000015.10:89319015:C:T p.(Ser1063Asn) NC_000015.10:89319015:C:T p.(Ser1063Asn) NC_000015.10:89319015:C:T Identity +NM_133259.4:c.1156C>A NP_573566.2:p.Pro386Thr NC_000002.12:43973899:G:T p.(Pro386Thr) NC_000002.12:43973899:G:T p.(Pro386Thr) NC_000002.12:43973899:G:T Identity +NM_000199.5:c.643T>C NP_000190.1:p.Tyr215His NC_000017.11:80214191:A:G p.(Tyr215His) NC_000017.11:80214191:A:G p.(Tyr215His) NC_000017.11:80214191:A:G Identity +NM_000685.5:c.1066T>G NP_000676.1:p.Phe356Val NC_000003.12:148742100:T:G p.(Phe356Val) NC_000003.12:148742100:T:G p.(Phe356Val) NC_000003.12:148742100:T:G Identity +NM_003737.4:c.1696G>A NP_003728.1:p.Val566Met NC_000011.10:6639917:C:T p.(Val566Met) NC_000011.10:6639917:C:T p.(Val566Met) NC_000011.10:6639917:C:T Identity +NM_025074.7:c.10961G>A NP_079350.5:p.Arg3654His NC_000004.12:78534483:G:A p.(Arg3654His) NC_000004.12:78534483:G:A p.(Arg3654His) NC_000004.12:78534483:G:A Identity +NM_004218.4:c.471T>G NP_004209.2:p.Asp157Glu NC_000019.10:8402524:T:G p.(Asp157Glu) NC_000019.10:8402524:T:G p.(Asp157Glu) NC_000019.10:8402524:T:G Identity +NM_000287.4:c.568A>G NP_000278.3:p.Thr190Ala NC_000006.12:42978582:T:C p.(Thr190Ala) NC_000006.12:42978582:T:C p.(Thr190Ala) NC_000006.12:42978582:T:C Identity +NM_001142544.3:c.98C>T NP_001136016.1:p.Ala33Val NC_000016.10:30899489:C:T p.(Ala33Val) NC_000016.10:30899489:C:T p.(Ala33Val) NC_000016.10:30899489:C:T Identity +NM_000941.3:c.304T>C NP_000932.3:p.Ser102Pro NC_000007.14:75979516:T:C ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:Data provider error: ValueError: Transcript NM_000941.3 not found ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000941.3, alt_ac=NM_000941.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000941.3 not found +NM_001035.3:c.10078A>G NP_001026.2:p.Thr3360Ala NC_000001.11:237709033:A:G p.(Thr3360Ala) NC_000001.11:237709033:A:G p.(Thr3360Ala) NC_000001.11:237709033:A:G Identity +NM_006019.4:c.220C>T NP_006010.2:p.Arg74Trp NC_000011.10:68042665:C:T p.(Arg74Trp) NC_000011.10:68042665:C:T p.(Arg74Trp) NC_000011.10:68042665:C:T Identity +NM_032656.4:c.1090C>A NP_116045.2:p.Leu364Met NC_000012.12:124971402:G:T p.(Leu364Met) NC_000012.12:124971402:G:T p.(Leu364Met) NC_000012.12:124971402:G:T Identity +NM_001351693.2:c.752C>T NP_001338622.1:p.Ala251Val NC_000019.10:39417950:C:T p.(Ala251Val) NC_000019.10:39417950:C:T p.(Ala251Val) NC_000019.10:39417950:C:T Identity +NM_000338.3:c.2732T>C NP_000329.2:p.Ile911Thr NC_000015.10:48288144:T:C p.(Ile911Thr) NC_000015.10:48288144:T:C p.(Ile911Thr) NC_000015.10:48288144:T:C Identity +NM_013444.4:c.1573C>G NP_038472.2:p.Pro525Ala NC_000023.11:56565445:C:G p.(Pro525Ala) NC_000023.11:56565445:C:G p.(Pro525Ala) NC_000023.11:56565445:C:G Identity +NM_000027.4:c.700C>T NP_000018.2:p.Arg234Cys NC_000004.12:177434487:G:A p.(Arg234Cys) NC_000004.12:177434487:G:A p.(Arg234Cys) NC_000004.12:177434487:G:A Identity +NM_206933.4:c.15290A>G NP_996816.3:p.Asn5097Ser NC_000001.11:215634465:T:C p.(Asn5097Ser) NC_000001.11:215634465:T:C p.(Asn5097Ser) NC_000001.11:215634465:T:C Identity +NM_001201543.2:c.1006G>A NP_001188472.1:p.Ala336Thr NC_000002.12:61839997:C:T p.(Ala336Thr) NC_000002.12:61839997:C:T p.(Ala336Thr) NC_000002.12:61839997:C:T Identity +NM_014249.4:c.253G>T NP_055064.1:p.Val85Leu NC_000015.10:71811772:G:T p.(Val85Leu) NC_000015.10:71811772:G:T p.(Val85Leu) NC_000015.10:71811772:G:T Identity +NM_014975.3:c.322G>A NP_055790.1:p.Val108Ile NC_000019.10:12843601:G:A p.(Val108Ile) NC_000019.10:12843601:G:A p.(Val108Ile) NC_000019.10:12843601:G:A Identity +NM_001318245.2:c.502G>C NP_001305174.1:p.Glu168Gln NC_000022.11:25768417:G:C p.(Glu168Gln) NC_000022.11:25768417:G:C p.(Glu168Gln) NC_000022.11:25768417:G:C Identity +NM_001282948.2:c.1010A>C NP_001269877.1:p.Glu337Ala NC_000010.11:63214610:T:G p.(Glu337Ala) NC_000010.11:63214610:T:G p.(Glu337Ala) NC_000010.11:63214610:T:G Identity +NM_001079846.1:c.436G>A NP_001073315.1:p.Ala146Thr NC_000016.10:3850658:C:T p.(Ala146Thr) NC_000016.10:3850658:C:T p.(Ala146Thr) NC_000016.10:3850658:C:T Identity +NM_001173408.2:c.1103G>A NP_001166879.1:p.Arg368His NC_000002.12:219568233:C:T p.(Arg368His) NC_000002.12:219568233:C:T p.(Arg368His) NC_000002.12:219568233:C:T Identity +NM_000282.4:c.917T>A NP_000273.2:p.Ile306Asn NC_000013.11:100273197:T:A p.(Ile306Asn) NC_000013.11:100273197:T:A p.(Ile306Asn) NC_000013.11:100273197:T:A Identity +NM_001178129.2:c.281C>T NP_001171600.1:p.Pro94Leu NC_000007.14:83418478:G:A p.(Pro94Leu) NC_000007.14:83418478:G:A p.(Pro94Leu) NC_000007.14:83418478:G:A Identity +NM_001136024.4:c.1312G>A NP_001129496.1:p.Val438Ile NC_000023.11:17725948:G:A p.(Val438Ile) NC_000023.11:17725948:G:A p.(Val438Ile) NC_000023.11:17725948:G:A Identity +NM_000019.4:c.31G>A NP_000010.1:p.Gly11Ser NC_000011.10:108121636:G:A p.(Gly11Ser) NC_000011.10:108121636:G:A p.(Gly11Ser) NC_000011.10:108121636:G:A Identity +NM_001031681.3:c.715G>A NP_001026851.2:p.Gly239Ser NC_000017.11:3658037:G:A p.(Gly239Ser) NC_000017.11:3658037:G:A p.(Gly239Ser) NC_000017.11:3658037:G:A Identity +NM_004525.3:c.5581A>G NP_004516.2:p.Ile1861Val NC_000002.12:169220520:T:C p.(Ile1861Val) NC_000002.12:169220520:T:C p.(Ile1861Val) NC_000002.12:169220520:T:C Identity +NM_001410908.1:c.310A>G NP_001397837.1:p.Thr104Ala NC_000007.14:105063473:A:G p.(Thr104Ala) NC_000007.14:105063473:A:G p.(Thr104Ala) NC_000007.14:105063473:A:G Identity +NM_001194954.2:c.1165A>G NP_001181883.1:p.Met389Val NC_000005.10:139317087:A:G p.(Met389Val) NC_000005.10:139317087:A:G p.(Met389Val) NC_000005.10:139317087:A:G Identity +NM_000282.4:c.19G>C NP_000273.2:p.Gly7Arg NC_000013.11:100089138:G:C p.(Gly7Arg) NC_000013.11:100089138:G:C p.(Gly7Arg) NC_000013.11:100089138:G:C Identity +NM_002524.5:c.325G>A NP_002515.1:p.Val109Ile NC_000001.11:114709693:C:T p.(Val109Ile) NC_000001.11:114709693:C:T p.(Val109Ile) NC_000001.11:114709693:C:T Identity +NM_016653.3:c.1164C>G NP_057737.2:p.Asp388Glu NC_000002.12:173232419:C:G p.(Asp388Glu) NC_000002.12:173232419:C:G p.(Asp388Glu) NC_000002.12:173232419:C:G Identity +NM_206933.4:c.10313C>T NP_996816.3:p.Ala3438Val NC_000001.11:215786743:G:A p.(Ala3438Val) NC_000001.11:215786743:G:A p.(Ala3438Val) NC_000001.11:215786743:G:A Identity +NM_000383.4:c.907C>T NP_000374.1:p.Arg303Trp NC_000021.9:44291121:C:T p.(Arg303Trp) NC_000021.9:44291121:C:T p.(Arg303Trp) NC_000021.9:44291121:C:T Identity +NM_003922.4:c.5501G>A NP_003913.3:p.Ser1834Asn NC_000015.10:63694136:C:T p.(Ser1834Asn) NC_000015.10:63694136:C:T p.(Ser1834Asn) NC_000015.10:63694136:C:T Identity +NM_000387.6:c.895C>G NP_000378.1:p.Pro299Ala NC_000003.12:48857720:G:C p.(Pro299Ala) NC_000003.12:48857720:G:C p.(Pro299Ala) NC_000003.12:48857720:G:C Identity +NM_001308122.2:c.713C>G NP_001295051.1:p.Ala238Gly NC_000005.10:132384289:C:G p.(Ala238Gly) NC_000005.10:132384289:C:G p.(Ala238Gly) NC_000005.10:132384289:C:G Identity +NM_001244008.2:c.1153G>A NP_001230937.1:p.Ala385Thr NC_000002.12:240773140:C:T p.(Ala385Thr) NC_000002.12:240773140:C:T p.(Ala385Thr) NC_000002.12:240773140:C:T Identity +NM_001178044.2:c.1735C>T NP_001171515.1:p.Arg579Cys NC_000006.12:31864880:G:A p.(Arg579Cys) NC_000006.12:31864880:G:A p.(Arg579Cys) NC_000006.12:31864880:G:A Identity +NM_005257.6:c.1559C>T NP_005248.2:p.Ser520Phe NC_000018.10:22182981:C:T p.(Ser520Phe) NC_000018.10:22182981:C:T p.(Ser520Phe) NC_000018.10:22182981:C:T Identity +NM_000094.4:c.1889G>C NP_000085.1:p.Ser630Thr NC_000003.12:48590475:C:G p.(Ser630Thr) NC_000003.12:48590475:C:G p.(Ser630Thr) NC_000003.12:48590475:C:G Identity +NM_001171933.1:c.1090G>A NP_001165404.1:p.Val364Ile NC_000010.11:71803357:G:A p.(Val364Ile) NC_000010.11:71803357:G:A p.(Val364Ile) NC_000010.11:71803357:G:A Identity +NM_000548.5:c.3788C>A NP_000539.2:p.Pro1263His NC_000016.10:2081771:C:A p.(Pro1263His) NC_000016.10:2081771:C:A p.(Pro1263His) NC_000016.10:2081771:C:A Identity +NM_001142301.1:c.1385C>T NP_001135773.1:p.Thr462Ile NC_000008.11:93793249:C:T p.(Thr462Ile) NC_000008.11:93793249:C:T p.(Thr462Ile) NC_000008.11:93793249:C:T Identity +NM_007272.3:c.86G>C NP_009203.2:p.Arg29Pro NC_000001.11:15440344:G:C p.(Arg29Pro) NC_000001.11:15440344:G:C p.(Arg29Pro) NC_000001.11:15440344:G:C Identity +NM_000094.4:c.8078C>T NP_000085.1:p.Pro2693Leu NC_000003.12:48567158:G:A p.(Pro2693Leu) NC_000003.12:48567158:G:A p.(Pro2693Leu) NC_000003.12:48567158:G:A Identity +NM_001099274.3:c.17dup NP_001092744.1:p.Ala7fs NC_000014.9:24242315:A:AA p.(Ala7GlyfsTer13) NC_000014.9:24242315:A:AA p.(Ala7GlyfsTer13) ERR:SPDI Analogous +NM_001079821.3:c.2860C>T NP_001073289.2:p.His954Tyr NC_000001.11:247444675:C:T p.(His954Tyr) NC_000001.11:247444675:C:T p.(His954Tyr) NC_000001.11:247444675:C:T Identity +NM_001256468.2:c.5239G>A NP_001243397.1:p.Ala1747Thr NC_000010.11:75030611:G:A p.(Ala1747Thr) NC_000010.11:75030611:G:A p.(Ala1747Thr) NC_000010.11:75030611:G:A Identity +NM_001306090.2:c.2227G>A NP_001293019.1:p.Ala743Thr NC_000004.12:5798714:G:A p.(Ala743Thr) NC_000004.12:5798714:G:A p.(Ala743Thr) NC_000004.12:5798714:G:A Identity +NM_020693.4:c.4586G>A NP_065744.3:p.Arg1529Gln NC_000011.10:117437255:C:T p.(Arg1529Gln) NC_000011.10:117437255:C:T p.(Arg1529Gln) NC_000011.10:117437255:C:T Identity +NM_001114377.2:c.554C>A NP_001107849.1:p.Ala185Glu NC_000023.11:49255790:G:T p.(Ala185Glu) NC_000023.11:49255790:G:T p.(Ala185Glu) NC_000023.11:49255790:G:T Identity +NM_001164716.1:c.1852G>A NP_001158188.1:p.Glu618Lys NC_000011.10:64750436:C:T p.(Glu618Lys) NC_000011.10:64750436:C:T p.(Glu618Lys) NC_000011.10:64750436:C:T Identity +NM_000445.5:c.1400G>A NP_000436.2:p.Arg467Gln NC_000008.11:143933295:C:T p.(Arg467Gln) NC_000008.11:143933295:C:T p.(Arg467Gln) NC_000008.11:143933295:C:T Identity +NM_001122670.2:c.3104A>G NP_001116142.1:p.Asp1035Gly NC_000023.11:72593203:T:C p.(Asp1035Gly) NC_000023.11:72593203:T:C p.(Asp1035Gly) NC_000023.11:72593203:T:C Identity +NM_001193304.3:c.577G>A NP_001180233.1:p.Ala193Thr NC_000002.12:96253947:C:T p.(Ala193Thr) NC_000002.12:96253947:C:T p.(Ala193Thr) NC_000002.12:96253947:C:T Identity +NM_001136536.5:c.1741C>T NP_001130008.2:p.Arg581Ter NC_000004.12:36343713:C:T p.(Arg581Ter) NC_000004.12:36343713:C:T p.(Arg581Ter) NC_000004.12:36343713:C:T Identity +NM_001331026.2:c.1450A>C NP_001317955.1:p.Ser484Arg NC_000005.10:43651863:A:C p.(Ser484Arg) NC_000005.10:43651863:A:C p.(Ser484Arg) NC_000005.10:43651863:A:C Identity +NM_001042386.2:c.1141G>C NP_001035845.1:p.Val381Leu NC_000002.12:44338364:C:G p.(Val381Leu) NC_000002.12:44338364:C:G p.(Val381Leu) NC_000002.12:44338364:C:G Identity +NM_003803.4:c.3032T>C NP_003794.3:p.Val1011Ala NC_000018.10:3119954:A:G p.(Val1011Ala) NC_000018.10:3119954:A:G p.(Val1011Ala) NC_000018.10:3119954:A:G Identity +NM_001278532.2:c.1160G>A NP_001265461.1:p.Arg387His NC_000006.12:169776471:G:A p.(Arg387His) NC_000006.12:169776471:G:A p.(Arg387His) NC_000006.12:169776471:G:A Identity +NM_000112.4:c.1439A>G NP_000103.2:p.Lys480Arg NC_000005.10:149981031:A:G p.(Lys480Arg) NC_000005.10:149981031:A:G p.(Lys480Arg) NC_000005.10:149981031:A:G Identity +NM_000101.4:c.488C>A NP_000092.2:p.Ala163Asp NC_000016.10:88643452:G:T p.(Ala163Asp) NC_000016.10:88643452:G:T p.(Ala163Asp) NC_000016.10:88643452:G:T Identity +NM_001113178.3:c.4504C>A NP_001106649.1:p.Pro1502Thr NC_000016.10:69695227:C:A p.(Pro1502Thr) NC_000016.10:69695227:C:A p.(Pro1502Thr) NC_000016.10:69695227:C:A Identity +NM_001164507.2:c.9550A>G NP_001157979.2:p.Lys3184Glu NC_000002.12:151631210:T:C p.(Lys3184Glu) NC_000002.12:151631210:T:C p.(Lys3184Glu) NC_000002.12:151631210:T:C Identity +NM_001178007.2:c.547A>C NP_001171478.1:p.Thr183Pro NC_000004.12:122742438:A:C p.(Thr183Pro) NC_000004.12:122742438:A:C p.(Thr183Pro) NC_000004.12:122742438:A:C Identity +NM_018941.4:c.694A>C NP_061764.2:p.Thr232Pro NC_000008.11:1780399:A:C p.(Thr232Pro) NC_000008.11:1780399:A:C p.(Thr232Pro) NC_000008.11:1780399:A:C Identity +NM_000396.4:c.64C>A NP_000387.1:p.Leu22Met NC_000001.11:150806741:G:T p.(Leu22Met) NC_000001.11:150806741:G:T p.(Leu22Met) NC_000001.11:150806741:G:T Identity +NM_001367624.2:c.11713C>T NP_001354553.1:p.Pro3905Ser NC_000016.10:88439182:C:T p.(Pro3905Ser) NC_000016.10:88439182:C:T p.(Pro3905Ser) NC_000016.10:88439182:C:T Identity +NM_006019.4:c.758G>A NP_006010.2:p.Arg253His NC_000011.10:68043857:G:A p.(Arg253His) NC_000011.10:68043857:G:A p.(Arg253His) NC_000011.10:68043857:G:A Identity +NM_001165963.4:c.2548G>A NP_001159435.1:p.Ala850Thr NC_000002.12:166039463:C:T p.(Ala850Thr) NC_000002.12:166039463:C:T p.(Ala850Thr) NC_000002.12:166039463:C:T Identity +NM_016239.4:c.9767T>C NP_057323.3:p.Ile3256Thr NC_000017.11:18163817:T:C p.(Ile3256Thr) NC_000017.11:18163817:T:C p.(Ile3256Thr) NC_000017.11:18163817:T:C Identity +NM_001113378.2:c.2782C>G NP_001106849.1:p.Gln928Glu NC_000015.10:89299944:C:G p.(Gln928Glu) NC_000015.10:89299944:C:G p.(Gln928Glu) NC_000015.10:89299944:C:G Identity +NM_001289155.2:c.661T>A NP_001276084.1:p.Ser221Thr NC_000015.10:74893310:T:A p.(Ser221Thr) NC_000015.10:74893310:T:A p.(Ser221Thr) NC_000015.10:74893310:T:A Identity +NM_000352.6:c.4657C>T NP_000343.2:p.Arg1553Trp NC_000011.10:17393079:G:A p.(Arg1553Trp) NC_000011.10:17393079:G:A p.(Arg1553Trp) NC_000011.10:17393079:G:A Identity +NM_001171933.1:c.2200_2201delinsTT NP_001165404.1:p.Glu734Leu NC_000010.11:71810016:GA:TT p.(Glu734Leu) NC_000010.11:71810016:GA:TT p.(Glu734Leu) NC_000010.11:71810016:GA:TT Identity +NM_000057.4:c.3362G>A NP_000048.1:p.Ser1121Asn NC_000015.10:90803523:G:A p.(Ser1121Asn) NC_000015.10:90803523:G:A p.(Ser1121Asn) NC_000015.10:90803523:G:A Identity +NM_001364440.2:c.652A>G NP_001351369.1:p.Asn218Asp NC_000005.10:7878193:A:G p.(Asn218Asp) NC_000005.10:7878193:A:G p.(Asn218Asp) NC_000005.10:7878193:A:G Identity +NM_001079846.1:c.395G>A NP_001073315.1:p.Ser132Asn NC_000016.10:3850699:C:T p.(Ser132Asn) NC_000016.10:3850699:C:T p.(Ser132Asn) NC_000016.10:3850699:C:T Identity +NM_001369.3:c.2298A>G NP_001360.1:p.Ile766Met NC_000005.10:13894782:T:C p.(Ile766Met) NC_000005.10:13894782:T:C p.(Ile766Met) NC_000005.10:13894782:T:C Identity +NM_000540.3:c.1964C>A NP_000531.2:p.Thr655Asn NC_000019.10:38458088:C:A p.(Thr655Asn) NC_000019.10:38458088:C:A p.(Thr655Asn) NC_000019.10:38458088:C:A Identity +NM_206933.4:c.7064C>T NP_996816.3:p.Pro2355Leu NC_000001.11:215965372:G:A p.(Pro2355Leu) NC_000001.11:215965372:G:A p.(Pro2355Leu) NC_000001.11:215965372:G:A Identity +NM_001194998.2:c.2842G>C NP_001181927.1:p.Val948Leu NC_000015.10:48756405:C:G p.(Val948Leu) NC_000015.10:48756405:C:G p.(Val948Leu) NC_000015.10:48756405:C:G Identity +NM_000056.5:c.569G>C NP_000047.1:p.Gly190Ala NC_000006.12:80168965:G:C p.(Gly190Ala) NC_000006.12:80168965:G:C p.(Gly190Ala) NC_000006.12:80168965:G:C Identity +NM_031935.3:c.13810C>T NP_114141.2:p.Arg4604Cys NC_000001.11:186137857:C:T p.(Arg4604Cys) NC_000001.11:186137857:C:T p.(Arg4604Cys) NC_000001.11:186137857:C:T Identity +NM_000153.4:c.1460C>T NP_000144.2:p.Pro487Leu NC_000014.9:87947756:G:A p.(Pro487Leu) NC_000014.9:87947756:G:A p.(Pro487Leu) NC_000014.9:87947756:G:A Identity +NM_001207047.3:c.1604A>G NP_001193976.1:p.His535Arg NC_000020.11:3572810:A:G p.(His535Arg) NC_000020.11:3572810:A:G p.(His535Arg) NC_000020.11:3572810:A:G Identity +NM_001385110.1:c.422T>C NP_001372039.1:p.Ile141Thr NC_000012.12:56355479:A:G p.(Ile141Thr) NC_000012.12:56355479:A:G p.(Ile141Thr) NC_000012.12:56355479:A:G Identity +NM_000053.4:c.1931A>G NP_000044.2:p.Lys644Arg NC_000013.11:51961851:T:C p.(Lys644Arg) NC_000013.11:51961851:T:C p.(Lys644Arg) NC_000013.11:51961851:T:C Identity +NM_001376058.1:c.305A>T NP_001362987.1:p.Glu102Val NC_000003.12:57198804:T:A p.(Glu102Val) NC_000003.12:57198804:T:A p.(Glu102Val) NC_000003.12:57198804:T:A Identity +NM_206933.4:c.10003A>T NP_996816.3:p.Ile3335Leu NC_000001.11:215790237:T:A p.(Ile3335Leu) NC_000001.11:215790237:T:A p.(Ile3335Leu) NC_000001.11:215790237:T:A Identity +NM_000153.4:c.484G>A NP_000144.2:p.Asp162Asn NC_000014.9:87984491:C:T p.(Asp162Asn) NC_000014.9:87984491:C:T p.(Asp162Asn) NC_000014.9:87984491:C:T Identity +NM_001281428.2:c.164T>C NP_001268357.1:p.Leu55Pro NC_000009.12:34485223:T:C p.(Leu55Pro) NC_000009.12:34485223:T:C p.(Leu55Pro) NC_000009.12:34485223:T:C Identity +NM_001303276.2:c.1307G>A NP_001290205.1:p.Arg436His NC_000017.11:75232898:G:A p.(Arg436His) NC_000017.11:75232898:G:A p.(Arg436His) NC_000017.11:75232898:G:A Identity +NM_001014794.3:c.377T>C NP_001014794.1:p.Val126Ala NC_000011.10:6608718:T:C p.(Val126Ala) NC_000011.10:6608718:T:C p.(Val126Ala) NC_000011.10:6608718:T:C Identity +NM_000215.4:c.757A>G NP_000206.2:p.Thr253Ala NC_000019.10:17842419:T:C p.(Thr253Ala) NC_000019.10:17842419:T:C p.(Thr253Ala) NC_000019.10:17842419:T:C Identity +NM_007255.3:c.343A>G NP_009186.1:p.Met115Val NC_000005.10:177604470:A:G p.(Met115Val) NC_000005.10:177604470:A:G p.(Met115Val) NC_000005.10:177604470:A:G Identity +NM_000342.4:c.1918G>A NP_000333.1:p.Val640Met NC_000017.11:44254634:C:T p.(Val640Met) NC_000017.11:44254634:C:T p.(Val640Met) NC_000017.11:44254634:C:T Identity +NM_001278055.2:c.6912A>G NP_001264984.1:p.Ile2304Met NC_000013.11:23336522:T:C p.(Ile2304Met) NC_000013.11:23336522:T:C p.(Ile2304Met) NC_000013.11:23336522:T:C Identity +NM_000066.4:c.249G>T NP_000057.3:p.Arg83Ser NC_000001.11:56960019:C:A p.(Arg83Ser) NC_000001.11:56960019:C:A p.(Arg83Ser) NC_000001.11:56960019:C:A Identity +NM_000251.3:c.2434A>T NP_000242.1:p.Thr812Ser NC_000002.12:47478494:A:T p.(Thr812Ser) NC_000002.12:47478494:A:T p.(Thr812Ser) NC_000002.12:47478494:A:T Identity +NM_000359.3:c.2222T>C NP_000350.1:p.Val741Ala NC_000014.9:24254154:A:G p.(Val741Ala) NC_000014.9:24254154:A:G p.(Val741Ala) NC_000014.9:24254154:A:G Identity +NM_001100.4:c.716A>G NP_001091.1:p.Glu239Gly NC_000001.11:229432085:T:C p.(Glu239Gly) NC_000001.11:229432085:T:C p.(Glu239Gly) NC_000001.11:229432085:T:C Identity +NM_002185.5:c.898_902del NP_002176.2:p.Pro300fs NC_000005.10:35876003:CCTGA: p.(Pro300LysfsTer9) NC_000005.10:35876003:CCTGA: p.(Pro300LysfsTer9) NC_000005.10:35876003:CCTGA: Analogous +NM_001220765.3:c.871A>G NP_001207694.1:p.Thr291Ala NC_000007.14:50400063:A:G p.(Thr291Ala) NC_000007.14:50400063:A:G p.(Thr291Ala) NC_000007.14:50400063:A:G Identity +NM_006393.3:c.2191G>A NP_006384.1:p.Val731Ile NC_000010.11:20815674:C:T p.(Val731Ile) NC_000010.11:20815674:C:T p.(Val731Ile) NC_000010.11:20815674:C:T Identity +NM_000260.4:c.4858G>A NP_000251.3:p.Glu1620Lys NC_000011.10:77201452:G:A p.(Glu1620Lys) NC_000011.10:77201452:G:A p.(Glu1620Lys) NC_000011.10:77201452:G:A Identity +NM_001256071.3:c.15345G>C NP_001243000.2:p.Lys5115Asn NC_000017.11:80390070:G:C p.(Lys5115Asn) NC_000017.11:80390070:G:C p.(Lys5115Asn) NC_000017.11:80390070:G:C Identity +NM_001177599.2:c.970G>A NP_001171070.1:p.Gly324Ser NC_000003.12:67495889:C:T p.(Gly324Ser) NC_000003.12:67495889:C:T p.(Gly324Ser) NC_000003.12:67495889:C:T Identity +NM_001042663.3:c.1445G>T NP_001036128.2:p.Cys482Phe NC_000001.11:6471047:C:A p.(Cys482Phe) NC_000001.11:6471047:C:A p.(Cys482Phe) NC_000001.11:6471047:C:A Identity +NM_001378454.1:c.9980C>T NP_001365383.1:p.Thr3327Ile NC_000002.12:73550338:C:T p.(Thr3327Ile) NC_000002.12:73550338:C:T p.(Thr3327Ile) NC_000002.12:73550338:C:T Identity +NM_001135.4:c.742G>A NP_001126.3:p.Ala248Thr NC_000015.10:88841851:G:A p.(Ala248Thr) NC_000015.10:88841851:G:A p.(Ala248Thr) NC_000015.10:88841851:G:A Identity +NM_000816.3:c.173C>T NP_000807.2:p.Thr58Ile NC_000005.10:162093892:C:T p.(Thr58Ile) NC_000005.10:162093892:C:T p.(Thr58Ile) NC_000005.10:162093892:C:T Identity +NM_024652.6:c.5522T>C NP_078928.3:p.Met1841Thr NC_000015.10:101065958:T:C p.(Met1841Thr) NC_000015.10:101065958:T:C p.(Met1841Thr) NC_000015.10:101065958:T:C Identity +NM_000814.6:c.1117G>A NP_000805.1:p.Glu373Lys NC_000015.10:26548097:C:T p.(Glu373Lys) NC_000015.10:26548097:C:T p.(Glu373Lys) NC_000015.10:26548097:C:T Identity +NM_000033.4:c.1450C>T NP_000024.2:p.Pro484Ser NC_000023.11:153737212:C:T p.(Pro484Ser) NC_000023.11:153737212:C:T p.(Pro484Ser) NC_000023.11:153737212:C:T Identity +NM_001199917.2:c.1628G>A NP_001186846.1:p.Ser543Asn NC_000006.12:83169318:C:T p.(Ser543Asn) NC_000006.12:83169318:C:T p.(Ser543Asn) NC_000006.12:83169318:C:T Identity +NM_000158.4:c.534G>C NP_000149.4:p.Trp178Cys NC_000003.12:81649816:C:G p.(Trp178Cys) NC_000003.12:81649816:C:G p.(Trp178Cys) NC_000003.12:81649816:C:G Identity +NM_005257.6:c.67_68delinsTT NP_005248.2:p.Asp23Phe NC_000018.10:22171210:GA:TT p.(Asp23Phe) NC_000018.10:22171210:GA:TT p.(Asp23Phe) NC_000018.10:22171210:GA:TT Identity +NM_080679.3:c.1604A>G NP_542410.2:p.Gln535Arg NC_000006.12:33177457:T:C p.(Gln535Arg) NC_000006.12:33177457:T:C p.(Gln535Arg) NC_000006.12:33177457:T:C Identity +NM_001297764.2:c.863C>T NP_001284693.1:p.Ala288Val NC_000011.10:17522882:G:A p.(Ala288Val) NC_000011.10:17522882:G:A p.(Ala288Val) NC_000011.10:17522882:G:A Identity +NM_001130965.3:c.860G>A NP_001124437.1:p.Arg287Gln NC_000007.14:852616:G:A p.(Arg287Gln) NC_000007.14:852616:G:A p.(Arg287Gln) NC_000007.14:852616:G:A Identity +NM_001288781.1:c.710A>G NP_001275710.1:p.Gln237Arg NC_000014.9:88853007:A:G p.(Gln237Arg) NC_000014.9:88853007:A:G p.(Gln237Arg) NC_000014.9:88853007:A:G Identity +NM_000544.3:c.1735G>A NP_000535.3:p.Ala579Thr NC_000006.12:32829989:C:T p.(Ala579Thr) NT_167244.2:4134855:C:T p.(Ala579Thr) NC_000006.12:4134855:A:T Identity +NM_001290020.2:c.1702G>A NP_001276949.1:p.Ala568Thr NC_000010.11:27944262:C:T p.(Ala568Thr) NC_000010.11:27944262:C:T p.(Ala568Thr) NC_000010.11:27944262:C:T Identity +NM_000445.5:c.12836CCT[3] NP_000436.2:p.Ser4282del NC_000008.11:143917054:AGGAGGAGGAGGA:AGGAGGAGGA p.(Ser4282del) NC_000008.11:143917065:G:AGGAGGAGG ERR:Parse ERR:Parse Identity +NM_001046.3:c.1431T>A NP_001037.1:p.Phe477Leu NC_000005.10:128138618:T:A p.(Phe477Leu) NC_000005.10:128138618:T:A p.(Phe477Leu) NC_000005.10:128138618:T:A Identity +NM_001142544.3:c.88C>T NP_001136016.1:p.His30Tyr NC_000016.10:30899479:C:T p.(His30Tyr) NC_000016.10:30899479:C:T p.(His30Tyr) NC_000016.10:30899479:C:T Identity +NM_173689.7:c.2238C>G NP_775960.4:p.His746Gln NC_000009.12:123371379:C:G p.(His746Gln) NC_000009.12:123371379:C:G p.(His746Gln) NC_000009.12:123371379:C:G Identity +NM_206933.4:c.8125A>C NP_996816.3:p.Thr2709Pro NC_000001.11:215888523:T:G p.(Thr2709Pro) NC_000001.11:215888523:T:G p.(Thr2709Pro) NC_000001.11:215888523:T:G Identity +NM_001256468.2:c.308G>T NP_001243397.1:p.Arg103Leu NC_000010.11:74843164:G:T p.(Arg103Leu) NC_000010.11:74843164:G:T p.(Arg103Leu) NC_000010.11:74843164:G:T Identity +NM_000053.4:c.2836G>A NP_000044.2:p.Asp946Asn NC_000013.11:51949690:C:T p.(Asp946Asn) NC_000013.11:51949690:C:T p.(Asp946Asn) NC_000013.11:51949690:C:T Identity +NM_032444.4:c.3686T>C NP_115820.2:p.Leu1229Ser NC_000016.10:3589951:A:G p.(Leu1229Ser) NC_000016.10:3589951:A:G p.(Leu1229Ser) NC_000016.10:3589951:A:G Identity +NM_014141.6:c.2401G>A NP_054860.1:p.Ala801Thr NC_000007.14:148118134:G:A p.(Ala801Thr) NC_000007.14:148118134:G:A p.(Ala801Thr) NC_000007.14:148118134:G:A Identity +NM_032634.4:c.1667G>A NP_116023.2:p.Arg556His NC_000009.12:35092219:C:T p.(Arg556His) NC_000009.12:35092219:C:T p.(Arg556His) NC_000009.12:35092219:C:T Identity +NM_006662.3:c.8459C>T NP_006653.2:p.Pro2820Leu NC_000016.10:30738498:C:T p.(Pro2820Leu) NC_000016.10:30738498:C:T p.(Pro2820Leu) NC_000016.10:30738498:C:T Identity +NM_001317924.2:c.2263G>C NP_001304853.1:p.Val755Leu NC_000004.12:39253158:G:C p.(Val755Leu) NC_000004.12:39253158:G:C p.(Val755Leu) NC_000004.12:39253158:G:C Identity +NM_000152.5:c.1033C>T NP_000143.2:p.Pro345Ser NC_000017.11:80108366:C:T p.(Pro345Ser) NC_000017.11:80108366:C:T p.(Pro345Ser) NC_000017.11:80108366:C:T Identity +NM_004273.5:c.34C>T NP_004264.2:p.Arg12Trp NC_000010.11:72005875:C:T p.(Arg12Trp) NC_000010.11:72005875:C:T p.(Arg12Trp) NC_000010.11:72005875:C:T Identity +NM_001006658.3:c.2411C>G NP_001006659.1:p.Ser804Cys NC_000001.11:207474910:C:G p.(Ser804Cys) NC_000001.11:207474910:C:G p.(Ser804Cys) NC_000001.11:207474910:C:G Identity +NM_001272073.2:c.10C>G NP_001259002.1:p.Leu4Val NC_000003.12:49104723:G:C p.(Leu4Val) NC_000003.12:49104723:G:C p.(Leu4Val) NC_000003.12:49104723:G:C Identity +NM_001171930.2:c.347G>A NP_001165401.1:p.Arg116Gln NC_000010.11:71511129:G:A p.(Arg116Gln) NC_000010.11:71511129:G:A p.(Arg116Gln) NC_000010.11:71511129:G:A Identity +NM_001374425.1:c.856G>A NP_001361354.1:p.Val286Ile NC_000001.11:2406596:C:T p.(Val286Ile) NC_000001.11:2406596:C:T p.(Val286Ile) NC_000001.11:2406596:C:T Identity +NM_001160227.2:c.3905C>T NP_001153699.1:p.Ser1302Phe NC_000015.10:44598360:G:A p.(Ser1302Phe) NC_000015.10:44598360:G:A p.(Ser1302Phe) NC_000015.10:44598360:G:A Identity +NM_000553.6:c.280C>G NP_000544.2:p.Leu94Val NC_000008.11:31064358:C:G p.(Leu94Val) NC_000008.11:31064358:C:G p.(Leu94Val) NC_000008.11:31064358:C:G Identity +NM_183075.3:c.734A>G NP_898898.1:p.Asn245Ser NC_000004.12:107945212:A:G p.(Asn245Ser) NC_000004.12:107945212:A:G p.(Asn245Ser) NC_000004.12:107945212:A:G Identity +NM_206933.4:c.9389G>T NP_996816.3:p.Trp3130Leu NC_000001.11:215817177:C:A p.(Trp3130Leu) NC_000001.11:215817177:C:A p.(Trp3130Leu) NC_000001.11:215817177:C:A Identity +NM_000426.4:c.4261C>T NP_000417.3:p.Gln1421Ter NC_000006.12:129328361:C:T p.(Gln1421Ter) NC_000006.12:129328361:C:T p.(Gln1421Ter) NC_000006.12:129328361:C:T Identity +NM_001042494.2:c.1246G>A NP_001035959.1:p.Glu416Lys NC_000015.10:34250967:C:T p.(Glu416Lys) NC_000015.10:34250967:C:T p.(Glu416Lys) NC_000015.10:34250967:C:T Identity +NM_001184.4:c.4166A>G NP_001175.2:p.Asp1389Gly NC_000003.12:142522827:T:C p.(Asp1389Gly) NC_000003.12:142522827:T:C p.(Asp1389Gly) NC_000003.12:142522827:T:C Identity +NM_001127218.3:c.502G>C NP_001120690.1:p.Asp168His NC_000007.14:44117211:C:G p.(Asp168His) NC_000007.14:44117211:C:G p.(Asp168His) NC_000007.14:44117211:C:G Identity +NM_001384732.1:c.5534G>T NP_001371661.1:p.Arg1845Ile NC_000005.10:37180892:C:A p.(Arg1845Ile) NC_000005.10:37180892:C:A p.(Arg1845Ile) NC_000005.10:37180892:C:A Identity +NM_001220765.3:c.883G>A NP_001207694.1:p.Gly295Ser NC_000007.14:50400075:G:A p.(Gly295Ser) NC_000007.14:50400075:G:A p.(Gly295Ser) NC_000007.14:50400075:G:A Identity +NM_001199954.3:c.434C>G NP_001186883.1:p.Ser145Cys NC_000017.11:81511555:G:C p.(Ser145Cys) NC_000017.11:81511555:G:C p.(Ser145Cys) NC_000017.11:81511555:G:C Identity +NM_000527.5:c.1060G>A NP_000518.1:p.Asp354Asn NC_000019.10:11110770:G:A p.(Asp354Asn) NC_000019.10:11110770:G:A p.(Asp354Asn) NC_000019.10:11110770:G:A Identity +NM_001271043.2:c.583G>T NP_001257972.1:p.Glu195Ter NC_000019.10:13025551:G:T p.(Glu195Ter) NC_000019.10:13025551:G:T p.(Glu195Ter) NC_000019.10:13025551:G:T Identity +NM_001371986.1:c.7315T>A NP_001358915.1:p.Leu2439Ile NC_000002.12:209954127:T:A p.(Leu2439Ile) NC_000002.12:209954127:T:A p.(Leu2439Ile) NC_000002.12:209954127:T:A Identity +NM_000082.4:c.810G>T NP_000073.1:p.Arg270Ser NC_000005.10:60898308:C:A p.(Arg270Ser) NC_000005.10:60898308:C:A p.(Arg270Ser) NC_000005.10:60898308:C:A Identity +NM_001080414.4:c.601G>A NP_001073883.2:p.Asp201Asn NC_000014.9:91339906:C:T p.(Asp201Asn) NC_000014.9:91339906:C:T p.(Asp201Asn) NC_000014.9:91339906:C:T Identity +NM_001291593.2:c.848T>C NP_001278522.1:p.Met283Thr NC_000001.11:5887383:A:G p.(Met283Thr) NC_000001.11:5887383:A:G p.(Met283Thr) NC_000001.11:5887383:A:G Identity +NM_000203.5:c.1592G>A NP_000194.2:p.Arg531Gln NC_000004.12:1003411:G:A p.(Arg531Gln) NC_000004.12:1003411:G:A p.(Arg531Gln) NC_000004.12:1003411:G:A Identity +NM_000203.5:c.1033C>T NP_000194.2:p.Leu345Phe NC_000004.12:1002328:C:T p.(Leu345Phe) NC_000004.12:1002328:C:T p.(Leu345Phe) NC_000004.12:1002328:C:T Identity +NM_001385200.1:c.1189C>T NP_001372129.1:p.Arg397Trp NC_000019.10:10364870:G:A p.(Arg397Trp) NC_000019.10:10364870:G:A p.(Arg397Trp) NC_000019.10:10364870:G:A Identity +NM_033071.5:c.21860C>T NP_149062.2:p.Ala7287Val NC_000006.12:152218374:G:A p.(Ala7287Val) NC_000006.12:152218374:G:A p.(Ala7287Val) NC_000006.12:152218374:G:A Identity +NM_000401.3:c.1561G>A NP_000392.3:p.Val521Ile NC_000011.10:44197984:G:A p.(Val521Ile) NC_000011.10:44197984:G:A p.(Val521Ile) NC_000011.10:44197984:G:A Identity +NM_000466.3:c.1142C>T NP_000457.1:p.Ala381Val NC_000007.14:92517372:G:A p.(Ala381Val) NC_000007.14:92517372:G:A p.(Ala381Val) NC_000007.14:92517372:G:A Identity +NM_001130455.2:c.341C>T NP_001123927.1:p.Thr114Ile NC_000002.12:71503314:C:T p.(Thr114Ile) NC_000002.12:71503314:C:T p.(Thr114Ile) NC_000002.12:71503314:C:T Identity +NM_000329.3:c.1088C>A NP_000320.1:p.Pro363His NC_000001.11:68438226:G:T p.(Pro363His) NC_000001.11:68438226:G:T p.(Pro363His) NC_000001.11:68438226:G:T Identity +NM_001410876.1:c.1335C>G NP_001397805.1:p.Gly445= NC_000006.12:35466261:C:G p.(Gly445=) NC_000006.12:35466261:C:G p.(Gly445=) NC_000006.12:35466261:C:G Identity +NM_001164617.2:c.1769G>C NP_001158089.1:p.Ser590Thr NC_000023.11:133536166:C:G p.(Ser590Thr) NC_000023.11:133536166:C:G p.(Ser590Thr) NC_000023.11:133536166:C:G Identity +NM_000094.4:c.7475G>A NP_000085.1:p.Arg2492Gln NC_000003.12:48570143:C:T p.(Arg2492Gln) NC_000003.12:48570143:C:T p.(Arg2492Gln) NC_000003.12:48570143:C:T Identity +NM_001017420.3:c.1345A>G NP_001017420.1:p.Ile449Val NC_000008.11:27792043:A:G p.(Ile449Val) NC_000008.11:27792043:A:G p.(Ile449Val) NC_000008.11:27792043:A:G Identity +NM_000293.3:c.1409A>G NP_000284.1:p.Tyr470Cys NC_000016.10:47610870:A:G p.(Tyr470Cys) NC_000016.10:47610870:A:G p.(Tyr470Cys) NC_000016.10:47610870:A:G Identity +NM_002334.4:c.5512C>T NP_002325.2:p.Arg1838Trp NC_000011.10:46859188:G:A p.(Arg1838Trp) NC_000011.10:46859188:G:A p.(Arg1838Trp) NC_000011.10:46859188:G:A Identity +NM_000287.4:c.272G>C NP_000278.3:p.Trp91Ser NC_000006.12:42978878:C:G p.(Trp91Ser) NC_000006.12:42978878:C:G p.(Trp91Ser) NC_000006.12:42978878:C:G Identity +NM_000321.3:c.2351A>T NP_000312.2:p.His784Leu NC_000013.11:48465229:A:T p.(His784Leu) NC_000013.11:48465229:A:T p.(His784Leu) NC_000013.11:48465229:A:T Identity +NM_005045.4:c.6254A>G NP_005036.2:p.Gln2085Arg NC_000007.14:103551114:T:C p.(Gln2085Arg) NC_000007.14:103551114:T:C p.(Gln2085Arg) NC_000007.14:103551114:T:C Identity +NM_015965.7:c.74T>G NP_057049.5:p.Leu25Trp NC_000019.10:19516311:T:G p.(Leu25Trp) NC_000019.10:19516311:T:G p.(Leu25Trp) NC_000019.10:19516311:T:G Identity +NM_001349253.2:c.1027G>C NP_001336182.1:p.Asp343His NC_000003.12:38910139:C:G p.(Asp343His) NC_000003.12:38910139:C:G p.(Asp343His) NC_000003.12:38910139:C:G Identity +NM_000271.5:c.3295A>G NP_000262.2:p.Ile1099Val NC_000018.10:23535650:T:C p.(Ile1099Val) NC_000018.10:23535650:T:C p.(Ile1099Val) NC_000018.10:23535650:T:C Identity +NM_005908.4:c.997A>G NP_005899.3:p.Ile333Val NC_000004.12:102674033:T:C p.(Ile333Val) NC_000004.12:102674033:T:C p.(Ile333Val) NC_000004.12:102674033:T:C Identity +NM_000153.4:c.758A>G NP_000144.2:p.His253Arg NC_000014.9:87968484:T:C p.(His253Arg) NC_000014.9:87968484:T:C p.(His253Arg) NC_000014.9:87968484:T:C Identity +NM_001145951.2:c.14C>T NP_001139423.1:p.Ser5Phe NC_000023.11:101348650:G:A p.(Ser5Phe) NC_000023.11:101348650:G:A p.(Ser5Phe) NC_000023.11:101348650:G:A Identity +NM_005732.4:c.2477A>C NP_005723.2:p.Gln826Pro NC_000005.10:132603998:A:C p.(Gln826Pro) NC_000005.10:132603998:A:C p.(Gln826Pro) NC_000005.10:132603998:A:C Identity +NM_019098.5:c.529G>C NP_061971.3:p.Asp177His NC_000008.11:86668132:C:G p.(Asp177His) NC_000008.11:86668132:C:G p.(Asp177His) NC_000008.11:86668132:C:G Identity +NM_015180.6:c.19309G>A NP_055995.4:p.Gly6437Ser NC_000014.9:64214445:G:A p.(Gly6437Ser) NC_000014.9:64214445:G:A p.(Gly6437Ser) NC_000014.9:64214445:G:A Identity +NM_000178.4:c.400G>A NP_000169.1:p.Ala134Thr NC_000020.11:34942578:C:T p.(Ala134Thr) NC_000020.11:34942578:C:T p.(Ala134Thr) NC_000020.11:34942578:C:T Identity +NM_019074.4:c.704A>C NP_061947.1:p.Lys235Thr NC_000015.10:40932215:A:C p.(Lys235Thr) NC_000015.10:40932215:A:C p.(Lys235Thr) NC_000015.10:40932215:A:C Identity +NM_001082537.3:c.163_164delinsAA NP_001076006.1:p.Gly55Lys NC_000012.12:110614344:GG:AA p.(Gly55Lys) NC_000012.12:110614344:GG:AA p.(Gly55Lys) NC_000012.12:110614344:GG:AA Identity +NM_024753.5:c.2251C>G NP_079029.3:p.Gln751Glu NC_000002.12:165912584:G:C p.(Gln751Glu) NC_000002.12:165912584:G:C p.(Gln751Glu) NC_000002.12:165912584:G:C Identity +NM_001184985.2:c.6265G>A NP_001171914.1:p.Ala2089Thr NC_000012.12:890488:G:A p.(Ala2089Thr) NC_000012.12:890488:G:A p.(Ala2089Thr) NC_000012.12:890488:G:A Identity +NM_001379141.1:c.3646G>A NP_001366070.1:p.Glu1216Lys NC_000018.10:44952985:G:A p.(Glu1216Lys) NC_000018.10:44952985:G:A p.(Glu1216Lys) NC_000018.10:44952985:G:A Identity +NM_001142800.2:c.5399C>T NP_001136272.1:p.Pro1800Leu NC_000006.12:64590467:G:A p.(Pro1800Leu) NC_000006.12:64590467:G:A p.(Pro1800Leu) NC_000006.12:64590467:G:A Identity +NM_015384.5:c.8056C>T NP_056199.2:p.Arg2686Trp NC_000005.10:37063984:C:T p.(Arg2686Trp) NC_000005.10:37063984:C:T p.(Arg2686Trp) NC_000005.10:37063984:C:T Identity +NM_001354512.2:c.434G>A NP_001341441.1:p.Arg145Gln NC_000015.10:25371679:C:T p.(Arg145Gln) NC_000015.10:25371679:C:T p.(Arg145Gln) NC_000015.10:25371679:C:T Identity +NM_181712.5:c.344C>T NP_859063.3:p.Ala115Val NC_000001.11:62274759:G:A p.(Ala115Val) NC_000001.11:62274759:G:A p.(Ala115Val) NC_000001.11:62274759:G:A Identity +NM_001411065.1:c.565G>A NP_001397994.1:p.Gly189Arg NC_000015.10:66485004:G:A p.(Gly189Arg) NC_000015.10:66485004:G:A p.(Gly189Arg) NC_000015.10:66485004:G:A Identity +NM_000112.4:c.95A>T NP_000103.2:p.Gln32Leu NC_000005.10:149977746:A:T p.(Gln32Leu) NC_000005.10:149977746:A:T p.(Gln32Leu) NC_000005.10:149977746:A:T Identity +NM_001077397.1:c.635C>G NP_001070865.1:p.Ser212Cys NC_000001.11:234608859:G:C p.(Ser212Cys) NC_000001.11:234608859:G:C p.(Ser212Cys) NC_000001.11:234608859:G:C Identity +NM_001278055.2:c.2410C>T NP_001264984.1:p.His804Tyr NC_000013.11:23341024:G:A p.(His804Tyr) NC_000013.11:23341024:G:A p.(His804Tyr) NC_000013.11:23341024:G:A Identity +NM_001411067.1:c.1189dup NP_001397996.1:p.Gly398Trpfs NC_000017.11:8235846:GG:GGG p.(Gly398TrpfsTer130) NC_000017.11:8235846:GG:GGG p.(Gly398TrpfsTer130) ERR:SPDI Analogous +NM_000180.4:c.1828C>G NP_000171.1:p.Leu610Val NC_000017.11:8012221:C:G p.(Leu610Val) NC_000017.11:8012221:C:G p.(Leu610Val) NC_000017.11:8012221:C:G Identity +NM_001127366.3:c.1118C>T NP_001120838.1:p.Ser373Leu NC_000002.12:222220191:G:A p.(Ser373Leu) NC_000002.12:222220191:G:A p.(Ser373Leu) NC_000002.12:222220191:G:A Identity +NM_024747.6:c.1061A>G NP_079023.2:p.His354Arg NC_000010.11:102066534:A:G p.(His354Arg) NC_000010.11:102066534:A:G p.(His354Arg) NC_000010.11:102066534:A:G Identity +NM_001999.4:c.7495C>A NP_001990.2:p.Pro2499Thr NC_000005.10:128276136:G:T p.(Pro2499Thr) NC_000005.10:128276136:G:T p.(Pro2499Thr) NC_000005.10:128276136:G:T Identity +NM_000211.5:c.355T>G NP_000202.3:p.Phe119Val NC_000021.9:44903508:A:C p.(Phe119Val) NC_000021.9:44903508:A:C p.(Phe119Val) NC_000021.9:44903508:A:C Identity +NM_000709.4:c.208C>T NP_000700.1:p.Pro70Ser NC_000019.10:41410735:C:T p.(Pro70Ser) NC_000019.10:41410735:C:T p.(Pro70Ser) NC_000019.10:41410735:C:T Identity +NM_001385197.1:c.1762G>A NP_001372126.1:p.Glu588Lys NC_000019.10:10362088:C:T p.(Glu588Lys) NC_000019.10:10362088:C:T p.(Glu588Lys) NC_000019.10:10362088:C:T Identity +NM_001318502.2:c.91C>G NP_001305431.1:p.Pro31Ala NC_000009.12:136439328:G:C p.(Pro31Ala) NC_000009.12:136439328:G:C p.(Pro31Ala) NC_000009.12:136439328:G:C Identity +NM_001369.3:c.7619C>T NP_001360.1:p.Thr2540Met NC_000005.10:13809176:G:A p.(Thr2540Met) NC_000005.10:13809176:G:A p.(Thr2540Met) NC_000005.10:13809176:G:A Identity +NM_001382235.1:c.2384C>T NP_001369164.1:p.Pro795Leu NC_000020.11:63406932:G:A p.(Pro795Leu) NC_000020.11:63406932:G:A p.(Pro795Leu) NC_000020.11:63406932:G:A Identity +NM_012203.2:c.85T>C NP_036335.1:p.Cys29Arg NC_000009.12:37424845:T:C p.(Cys29Arg) NC_000009.12:37424845:T:C p.(Cys29Arg) NC_000009.12:37424845:T:C Identity +NM_001142763.2:c.3323A>G NP_001136235.1:p.Tyr1108Cys NC_000010.11:53938879:T:C p.(Tyr1108Cys) NC_000010.11:53938879:T:C p.(Tyr1108Cys) NC_000010.11:53938879:T:C Identity +NM_000186.4:c.3329G>C NP_000177.2:p.Gly1110Ala NC_000001.11:196745834:G:C p.(Gly1110Ala) NC_000001.11:196745834:G:C p.(Gly1110Ala) NC_000001.11:196745834:G:C Identity +NM_001193503.2:c.131A>G NP_001180432.1:p.Tyr44Cys NC_000017.11:4952839:A:G p.(Tyr44Cys) NC_000017.11:4952839:A:G p.(Tyr44Cys) NC_000017.11:4952839:A:G Identity +NM_001301738.2:c.809C>T NP_001288667.1:p.Thr270Ile NC_000005.10:139476404:G:A p.(Thr270Ile) NC_000005.10:139476404:G:A p.(Thr270Ile) NC_000005.10:139476404:G:A Identity +NM_001081640.2:c.8262G>C NP_001075109.1:p.Glu2754Asp NC_000008.11:47831816:C:G p.(Glu2754Asp) NC_000008.11:47831816:C:G p.(Glu2754Asp) NC_000008.11:47831816:C:G Identity +NM_003673.4:c.325A>G NP_003664.1:p.Thr109Ala NC_000017.11:39665929:A:G p.(Thr109Ala) NC_000017.11:39665929:A:G p.(Thr109Ala) NC_000017.11:39665929:A:G Identity +NM_001164507.2:c.20966A>G NP_001157979.2:p.Tyr6989Cys NC_000002.12:151538170:T:C p.(Tyr6989Cys) NC_000002.12:151538170:T:C p.(Tyr6989Cys) NC_000002.12:151538170:T:C Identity +NM_001283009.2:c.31G>A NP_001269938.1:p.Val11Ile NC_000020.11:63659432:G:A p.(Val11Ile) NC_000020.11:63659432:G:A p.(Val11Ile) NC_000020.11:63659432:G:A Identity +NM_000199.5:c.304G>A NP_000190.1:p.Asp102Asn NC_000017.11:80215083:C:T p.(Asp102Asn) NC_000017.11:80215083:C:T p.(Asp102Asn) NC_000017.11:80215083:C:T Identity +NM_020975.6:c.1363G>T NP_066124.1:p.Val455Phe NC_000010.11:43111305:G:T p.(Val455Phe) NC_000010.11:43111305:G:T p.(Val455Phe) NC_000010.11:43111305:G:T Identity +NM_001144769.5:c.12077G>A NP_001138241.1:p.Arg4026Gln NC_000006.12:56515591:C:T p.(Arg4026Gln) NC_000006.12:56515591:C:T p.(Arg4026Gln) NC_000006.12:56515591:C:T Identity +NM_175875.5:c.1232C>T NP_787071.3:p.Ala411Val NC_000019.10:45766726:G:A p.(Ala411Val) NC_000019.10:45766726:G:A p.(Ala411Val) NC_000019.10:45766726:G:A Identity +NM_003906.5:c.5041C>T NP_003897.2:p.Pro1681Ser NC_000021.9:46243719:G:A p.(Pro1681Ser) NC_000021.9:46243719:G:A p.(Pro1681Ser) NC_000021.9:46243719:G:A Identity +NM_001142800.2:c.5714A>G NP_001136272.1:p.Asn1905Ser NC_000006.12:64439282:T:C p.(Asn1905Ser) NC_000006.12:64439282:T:C p.(Asn1905Ser) NC_000006.12:64439282:T:C Identity +NM_000195.5:c.1714G>A NP_000186.2:p.Gly572Arg NC_000010.11:98422397:C:T p.(Gly572Arg) NC_000010.11:98422397:C:T p.(Gly572Arg) NC_000010.11:98422397:C:T Identity +NM_000521.4:c.425A>G NP_000512.2:p.Asn142Ser NC_000005.10:74689452:A:G p.(Asn142Ser) NC_000005.10:74689452:A:G p.(Asn142Ser) NC_000005.10:74689452:A:G Identity +NM_001410876.1:c.928C>G NP_001397805.1:p.Pro310Ala NC_000006.12:35457942:C:G p.(Pro310Ala) NC_000006.12:35457942:C:G p.(Pro310Ala) NC_000006.12:35457942:C:G Identity +NM_004629.2:c.123G>C NP_004620.1:p.Gln41His NC_000009.12:35079202:C:G p.(Gln41His) NC_000009.12:35079202:C:G p.(Gln41His) NC_000009.12:35079202:C:G Identity +NM_001081.4:c.1634T>G NP_001072.2:p.Leu545Arg NC_000010.11:17100135:A:C p.(Leu545Arg) NC_000010.11:17100135:A:C p.(Leu545Arg) NC_000010.11:17100135:A:C Identity +NM_022124.6:c.6532A>T NP_071407.4:p.Ile2178Phe NC_000010.11:71793459:A:T p.(Ile2178Phe) NC_000010.11:71793459:A:T p.(Ile2178Phe) NC_000010.11:71793459:A:T Identity +NM_001167733.3:c.2363G>A NP_001161205.1:p.Arg788Gln NC_000006.12:30925382:G:A p.(Arg788Gln) NC_000006.12:30925382:G:A p.(Arg788Gln) NC_000006.12:30925382:G:A Identity +NM_001142763.2:c.4865G>A NP_001136235.1:p.Cys1622Tyr NC_000010.11:53822881:C:T p.(Cys1622Tyr) NC_000010.11:53822881:C:T p.(Cys1622Tyr) NC_000010.11:53822881:C:T Identity +NM_001256442.2:c.284C>G NP_001243371.1:p.Ser95Ter NC_000016.10:29813337:C:G p.(Ser95Ter) NC_000016.10:29813337:C:G p.(Ser95Ter) NC_000016.10:29813337:C:G Identity +NM_004304.5:c.269C>T NP_004295.2:p.Ser90Leu NC_000002.12:29920390:G:A p.(Ser90Leu) NC_000002.12:29920390:G:A p.(Ser90Leu) NC_000002.12:29920390:G:A Identity +NM_177938.2:c.184del NP_808807.2:p.Leu62fs NC_000003.12:48990438:CC:C p.(Leu62TrpfsTer3) NC_000003.12:48990438:CC:C p.(Leu62TrpfsTer3) NC_000003.12:48990439:C: Analogous +NM_000520.6:c.17T>G NP_000511.2:p.Leu6Arg NC_000015.10:72375955:A:C p.(Leu6Arg) NC_000015.10:72375955:A:C p.(Leu6Arg) NC_000015.10:72375955:A:C Identity +NM_005413.4:c.839T>A NP_005404.1:p.Met280Lys NC_000002.12:44944599:T:A p.(Met280Lys) NC_000002.12:44944599:T:A p.(Met280Lys) NC_000002.12:44944599:T:A Identity +NM_001001290.2:c.454G>A NP_001001290.1:p.Ala152Thr NC_000004.12:9980731:C:T p.(Ala152Thr) NC_000004.12:9980731:C:T p.(Ala152Thr) NC_000004.12:9980731:C:T Identity +NM_006767.4:c.22G>A NP_006758.2:p.Gly8Arg NC_000022.11:20982392:G:A p.(Gly8Arg) NC_000022.11:20982392:G:A p.(Gly8Arg) NC_000022.11:20982392:G:A Identity +NM_001407240.1:c.1118A>G NP_001394169.1:p.Glu373Gly NC_000001.11:55056187:A:G p.(Glu373Gly) NC_000001.11:55056187:A:G p.(Glu373Gly) NC_000001.11:55056187:A:G Identity +NM_001308334.3:c.3007G>A NP_001295263.1:p.Glu1003Lys NC_000016.10:53638362:C:T p.(Glu1003Lys) NC_000016.10:53638362:C:T p.(Glu1003Lys) NC_000016.10:53638362:C:T Identity +NM_001845.6:c.3689C>G NP_001836.3:p.Ala1230Gly NC_000013.11:110170599:G:C p.(Ala1230Gly) NC_000013.11:110170599:G:C p.(Ala1230Gly) NC_000013.11:110170599:G:C Identity +NM_000199.5:c.751G>A NP_000190.1:p.Gly251Arg NC_000017.11:80212268:C:T p.(Gly251Arg) NC_000017.11:80212268:C:T p.(Gly251Arg) NC_000017.11:80212268:C:T Identity +NM_013334.4:c.191T>G NP_037466.3:p.Met64Arg NC_000003.12:49723410:A:C p.(Met64Arg) NC_000003.12:49723410:A:C p.(Met64Arg) NC_000003.12:49723410:A:C Identity +NM_001321431.2:c.3427G>A NP_001308360.1:p.Gly1143Ser NC_000019.10:8117499:C:T p.(Gly1143Ser) NC_000019.10:8117499:C:T p.(Gly1143Ser) NC_000019.10:8117499:C:T Identity +NM_015335.5:c.3095A>G NP_056150.1:p.Asn1032Ser NC_000012.12:115991858:T:C p.(Asn1032Ser) NC_000012.12:115991858:T:C p.(Asn1032Ser) NC_000012.12:115991858:T:C Identity +NM_001127231.3:c.2710G>A NP_001120703.1:p.Ala904Thr NC_000007.14:70789997:G:A p.(Ala904Thr) NC_000007.14:70789997:G:A p.(Ala904Thr) NC_000007.14:70789997:G:A Identity +NM_001031847.3:c.1441G>A NP_001027017.1:p.Val481Met NC_000011.10:68780656:C:T p.(Val481Met) NC_000011.10:68780656:C:T p.(Val481Met) NC_000011.10:68780656:C:T Identity +NM_006739.4:c.469G>A NP_006730.2:p.Ala157Thr NC_000022.11:35406597:G:A p.(Ala157Thr) NC_000022.11:35406597:G:A p.(Ala157Thr) NC_000022.11:35406597:G:A Identity +NM_001308122.2:c.140A>T NP_001295051.1:p.Glu47Val NC_000005.10:132370111:A:T p.(Glu47Val) NC_000005.10:132370111:A:T p.(Glu47Val) NC_000005.10:132370111:A:T Identity +NM_001288705.3:c.142G>A NP_001275634.1:p.Val48Met NC_000005.10:150080931:C:T p.(Val48Met) NC_000005.10:150080931:C:T p.(Val48Met) NC_000005.10:150080931:C:T Identity +NM_013432.5:c.3613G>T NP_038460.4:p.Ala1205Ser NC_000008.11:144432406:C:A p.(Ala1205Ser) NC_000008.11:144432406:C:A p.(Ala1205Ser) NC_000008.11:144432406:C:A Identity +NM_001256468.2:c.2668G>C NP_001243397.1:p.Glu890Gln NC_000010.11:75022075:G:C p.(Glu890Gln) NC_000010.11:75022075:G:C p.(Glu890Gln) NC_000010.11:75022075:G:C Identity +NM_001003800.2:c.2563G>A NP_001003800.1:p.Asp855Asn NC_000009.12:92715158:C:T p.(Asp855Asn) NC_000009.12:92715158:C:T p.(Asp855Asn) NC_000009.12:92715158:C:T Identity +NM_001318360.2:c.2132C>T NP_001305289.1:p.Ala711Val NC_000009.12:108897174:G:A p.(Ala711Val) NC_000009.12:108897174:G:A p.(Ala711Val) NC_000009.12:108897174:G:A Identity +NM_001030311.3:c.197_200dup NP_001025482.1:p.Leu68fs NC_000002.12:181656806:GCTCGCTCGCTC:GCTCGCTCGCTCGCTC p.(Leu68SerfsTer15) NC_000002.12:181656806:GCTCGCTCGCTC:GCTCGCTCGCTCGCTC p.(Leu68SerfsTer15) ERR:SPDI Analogous +NM_000404.4:c.1771T>C NP_000395.3:p.Tyr591His NC_000003.12:32997307:A:G p.(Tyr591His) NC_000003.12:32997307:A:G p.(Tyr591His) NC_000003.12:32997307:A:G Identity +NM_000089.4:c.451G>A NP_000080.2:p.Gly151Arg NC_000007.14:94405216:G:A p.(Gly151Arg) NC_000007.14:94405216:G:A p.(Gly151Arg) NC_000007.14:94405216:G:A Identity +NM_000054.7:c.238C>T NP_000045.1:p.His80Tyr NC_000023.11:153905743:C:T p.(His80Tyr) NC_000023.11:153905743:C:T p.(His80Tyr) NC_000023.11:153905743:C:T Identity +NM_001385640.1:c.1915G>C NP_001372569.1:p.Glu639Gln NC_000001.11:942916:G:C p.(Glu639Gln) NC_000001.11:942916:G:C p.(Glu639Gln) NC_000001.11:942916:G:C Identity +NM_025114.4:c.6875G>C NP_079390.3:p.Ser2292Thr NC_000012.12:88055660:C:G p.(Ser2292Thr) NC_000012.12:88055660:C:G p.(Ser2292Thr) NC_000012.12:88055660:C:G Identity +NM_000094.4:c.8009C>T NP_000085.1:p.Ser2670Leu NC_000003.12:48567610:G:A p.(Ser2670Leu) NC_000003.12:48567610:G:A p.(Ser2670Leu) NC_000003.12:48567610:G:A Identity +NM_000414.4:c.658C>T NP_000405.1:p.Pro220Ser NC_000005.10:119489226:C:T p.(Pro220Ser) NC_000005.10:119489226:C:T p.(Pro220Ser) NC_000005.10:119489226:C:T Identity +NM_001308122.2:c.131C>G NP_001295051.1:p.Ala44Gly NC_000005.10:132370102:C:G p.(Ala44Gly) NC_000005.10:132370102:C:G p.(Ala44Gly) NC_000005.10:132370102:C:G Identity +NM_206933.4:c.14323G>A NP_996816.3:p.Ala4775Thr NC_000001.11:215650611:C:T p.(Ala4775Thr) NC_000001.11:215650611:C:T p.(Ala4775Thr) NC_000001.11:215650611:C:T Identity +NM_001382235.1:c.1148G>A NP_001369164.1:p.Arg383Lys NC_000020.11:63431339:C:T p.(Arg383Lys) NC_000020.11:63431339:C:T p.(Arg383Lys) NC_000020.11:63431339:C:T Identity +NM_138694.4:c.1817G>A NP_619639.3:p.Arg606Gln NC_000006.12:52055605:C:T p.(Arg606Gln) NC_000006.12:52055605:C:T p.(Arg606Gln) NC_000006.12:52055605:C:T Identity +NM_001144769.5:c.10900G>A NP_001138241.1:p.Ala3634Thr NC_000006.12:56529984:C:T p.(Ala3634Thr) NC_000006.12:56529984:C:T p.(Ala3634Thr) NC_000006.12:56529984:C:T Identity +NM_000426.4:c.8284G>C NP_000417.3:p.Gly2762Arg NC_000006.12:129502697:G:C p.(Gly2762Arg) NC_000006.12:129502697:G:C p.(Gly2762Arg) NC_000006.12:129502697:G:C Identity +NM_014014.5:c.4200G>T NP_054733.2:p.Arg1400Ser NC_000002.12:96284549:C:A p.(Arg1400Ser) NC_000002.12:96284549:C:A p.(Arg1400Ser) NC_000002.12:96284549:C:A Identity +NM_001101362.3:c.1150G>A NP_001094832.1:p.Gly384Ser NC_000015.10:65077964:G:A p.(Gly384Ser) NC_000015.10:65077964:G:A p.(Gly384Ser) NC_000015.10:65077964:G:A Identity +NM_000094.4:c.2505A>C NP_000085.1:p.Glu835Asp NC_000003.12:48588723:T:G p.(Glu835Asp) NC_000003.12:48588723:T:G p.(Glu835Asp) NC_000003.12:48588723:T:G Identity +NM_001035.3:c.8995A>G NP_001026.2:p.Lys2999Glu NC_000001.11:237680554:A:G p.(Lys2999Glu) NC_000001.11:237680554:A:G p.(Lys2999Glu) NC_000001.11:237680554:A:G Identity +NM_001142649.2:c.1047G>C NP_001136121.1:p.Met349Ile NC_000011.10:22250776:G:C p.(Met349Ile) NC_000011.10:22250776:G:C p.(Met349Ile) NC_000011.10:22250776:G:C Identity +NM_003482.4:c.4682T>G NP_003473.3:p.Val1561Gly NC_000012.12:49046075:A:C p.(Val1561Gly) NC_000012.12:49046075:A:C p.(Val1561Gly) NC_000012.12:49046075:A:C Identity +NM_000663.5:c.1492G>A NP_000654.2:p.Asp498Asn NC_000016.10:8781418:G:A p.(Asp498Asn) NC_000016.10:8781418:G:A p.(Asp498Asn) NC_000016.10:8781418:G:A Identity +NM_001291880.1:c.263G>A NP_001278809.1:p.Arg88His NC_000001.11:112516274:G:A p.(Arg88His) NC_000001.11:112516274:G:A p.(Arg88His) NC_000001.11:112516274:G:A Identity +NM_004995.4:c.446G>A NP_004986.1:p.Arg149His NC_000014.9:22842474:G:A p.(Arg149His) NC_000014.9:22842474:G:A p.(Arg149His) NC_000014.9:22842474:G:A Identity +NM_206933.4:c.5767C>G NP_996816.3:p.Pro1923Ala NC_000001.11:216073105:G:C p.(Pro1923Ala) NC_000001.11:216073105:G:C p.(Pro1923Ala) NC_000001.11:216073105:G:C Identity +NM_001171930.2:c.1149C>A NP_001165401.1:p.Asn383Lys NC_000010.11:71645838:C:A p.(Asn383Lys) NC_000010.11:71645838:C:A p.(Asn383Lys) NC_000010.11:71645838:C:A Identity +NM_001202554.2:c.87C>G NP_001189483.1:p.Phe29Leu NC_000001.11:26794120:C:G p.(Phe29Leu) NC_000001.11:26794120:C:G p.(Phe29Leu) NC_000001.11:26794120:C:G Identity +NM_004204.5:c.1684C>T NP_004195.2:p.Arg562Cys NC_000016.10:582972:C:T p.(Arg562Cys) NC_000016.10:582972:C:T p.(Arg562Cys) NC_000016.10:582972:C:T Identity +NM_130466.4:c.1786G>A NP_569733.2:p.Gly596Arg NC_000012.12:109510387:G:A p.(Gly596Arg) NC_000012.12:109510387:G:A p.(Gly596Arg) NC_000012.12:109510387:G:A Identity +NM_000432.4:c.403G>T NP_000423.2:p.Val135Phe NC_000012.12:110911174:C:A p.(Val135Phe) NC_000012.12:110911174:C:A p.(Val135Phe) NC_000012.12:110911174:C:A Identity +NM_005886.3:c.619G>T NP_005877.2:p.Gly207Cys NC_000016.10:57752041:G:T p.(Gly207Cys) NC_000016.10:57752041:G:T p.(Gly207Cys) NC_000016.10:57752041:G:T Identity +NM_000717.5:c.784C>G NP_000708.1:p.Gln262Glu NC_000017.11:60159268:C:G p.(Gln262Glu) NC_000017.11:60159268:C:G p.(Gln262Glu) NC_000017.11:60159268:C:G Identity +NM_001077365.2:c.2068G>T NP_001070833.1:p.Val690Leu NC_000009.12:131522995:G:T p.(Val690Leu) NC_000009.12:131522995:G:T p.(Val690Leu) NC_000009.12:131522995:G:T Identity +NM_001621.5:c.1837G>A NP_001612.1:p.Val613Ile NC_000007.14:17339661:G:A p.(Val613Ile) NC_000007.14:17339661:G:A p.(Val613Ile) NC_000007.14:17339661:G:A Identity +NM_001605.3:c.1049T>C NP_001596.2:p.Val350Ala NC_000016.10:70268292:A:G p.(Val350Ala) NC_000016.10:70268292:A:G p.(Val350Ala) NC_000016.10:70268292:A:G Identity +NM_001280541.2:c.783T>G NP_001267470.1:p.Ser261Arg NC_000003.12:129469407:T:G p.(Ser261Arg) NC_000003.12:129469407:T:G p.(Ser261Arg) NC_000003.12:129469407:T:G Identity +NM_001288721.2:c.886C>T NP_001275650.1:p.Arg296Trp NC_000011.10:62616507:G:A p.(Arg296Trp) NC_000011.10:62616507:G:A p.(Arg296Trp) NC_000011.10:62616507:G:A Identity +NM_001039675.2:c.1097A>T NP_001034764.1:p.Asp366Val NC_000015.10:90945005:A:T p.(Asp366Val) NC_000015.10:90945005:A:T p.(Asp366Val) NC_000015.10:90945005:A:T Identity +NM_001080463.2:c.12130T>G NP_001073932.1:p.Ser4044Ala NC_000011.10:103358311:T:G p.(Ser4044Ala) NC_000011.10:103358311:T:G p.(Ser4044Ala) NC_000011.10:103358311:T:G Identity +NM_021619.3:c.31C>A NP_067632.2:p.Leu11Met NC_000009.12:130664683:C:A p.(Leu11Met) NC_000009.12:130664683:C:A p.(Leu11Met) NC_000009.12:130664683:C:A Identity +NM_006739.4:c.553C>T NP_006730.2:p.Arg185Cys NC_000022.11:35406681:C:T p.(Arg185Cys) NC_000022.11:35406681:C:T p.(Arg185Cys) NC_000022.11:35406681:C:T Identity +NM_000414.4:c.2032G>A NP_000405.1:p.Gly678Ser NC_000005.10:119536460:G:A p.(Gly678Ser) NC_000005.10:119536460:G:A p.(Gly678Ser) NC_000005.10:119536460:G:A Identity +NM_001308258.2:c.550C>G NP_001295187.1:p.Pro184Ala NC_000003.12:149145427:C:G p.(Pro184Ala) NC_000003.12:149145427:C:G p.(Pro184Ala) NC_000003.12:149145427:C:G Identity +NM_017841.4:c.32C>A NP_060311.1:p.Ser11Ter NC_000011.10:61430177:C:A p.(Ser11Ter) NC_000011.10:61430177:C:A p.(Ser11Ter) NC_000011.10:61430177:C:A Identity +NM_001291411.2:c.3662C>T NP_001278340.2:p.Ser1221Leu NC_000021.9:33552892:C:T p.(Ser1221Leu) NC_000021.9:33552892:C:T p.(Ser1221Leu) NC_000021.9:33552892:C:T Identity +NM_000478.6:c.943G>T NP_000469.3:p.Val315Leu NC_000001.11:21573744:G:T p.(Val315Leu) NC_000001.11:21573744:G:T p.(Val315Leu) NC_000001.11:21573744:G:T Identity +NM_001098268.2:c.74G>A NP_001091738.1:p.Arg25Gln NC_000013.11:108211194:C:T p.(Arg25Gln) NC_000013.11:108211194:C:T p.(Arg25Gln) NC_000013.11:108211194:C:T Identity +NM_000069.3:c.1724T>C NP_000060.2:p.Leu575Pro NC_000001.11:201077022:A:G p.(Leu575Pro) NC_000001.11:201077022:A:G p.(Leu575Pro) NC_000001.11:201077022:A:G Identity +NM_001317799.2:c.26G>A NP_001304728.1:p.Arg9Gln NC_000004.12:122923167:G:A p.(Arg9Gln) NC_000004.12:122923167:G:A p.(Arg9Gln) NC_000004.12:122923167:G:A Identity +NM_001384474.1:c.1068C>A NP_001371403.1:p.Ser356Arg NC_000018.10:46601282:G:T p.(Ser356Arg) NC_000018.10:46601282:G:T p.(Ser356Arg) NC_000018.10:46601282:G:T Identity +NM_000094.4:c.955G>A NP_000085.1:p.Val319Met NC_000003.12:48592590:C:T p.(Val319Met) NC_000003.12:48592590:C:T p.(Val319Met) NC_000003.12:48592590:C:T Identity +NM_001193503.2:c.1107G>C NP_001180432.1:p.Arg369Ser NC_000017.11:4956977:G:C p.(Arg369Ser) NC_000017.11:4956977:G:C p.(Arg369Ser) NC_000017.11:4956977:G:C Identity +NM_013382.7:c.1348T>G NP_037514.2:p.Ser450Ala NC_000014.9:77285616:A:C p.(Ser450Ala) NC_000014.9:77285616:A:C p.(Ser450Ala) NC_000014.9:77285616:A:C Identity +NM_001127617.2:c.58G>A NP_001121089.1:p.Ala20Thr NC_000016.10:30067311:G:A p.(Ala20Thr) NC_000016.10:30067311:G:A p.(Ala20Thr) NC_000016.10:30067311:G:A Identity +NM_012186.3:c.325C>T NP_036318.1:p.Arg109Cys NC_000001.11:47416639:C:T p.(Arg109Cys) NC_000001.11:47416639:C:T p.(Arg109Cys) NC_000001.11:47416639:C:T Identity +NM_001104577.2:c.215C>A NP_001098047.1:p.Ala72Asp NC_000017.11:5034273:G:T p.(Ala72Asp) NC_000017.11:5034273:G:T p.(Ala72Asp) NC_000017.11:5034273:G:T Identity +NM_000481.4:c.95T>C NP_000472.2:p.Val32Ala NC_000003.12:49422266:A:G p.(Val32Ala) NC_000003.12:49422266:A:G p.(Val32Ala) NC_000003.12:49422266:A:G Identity +NM_001127487.2:c.4181A>C NP_001120959.1:p.Lys1394Thr NC_000007.14:128846797:A:C p.(Lys1394Thr) NC_000007.14:128846797:A:C p.(Lys1394Thr) NC_000007.14:128846797:A:C Identity +NM_005120.3:c.6274C>A NP_005111.2:p.Gln2092Lys NC_000023.11:71141235:C:A p.(Gln2092Lys) NC_000023.11:71141235:C:A p.(Gln2092Lys) NC_000023.11:71141235:C:A Identity +NM_000445.5:c.9031G>A NP_000436.2:p.Ala3011Thr NC_000008.11:143920870:C:T p.(Ala3011Thr) NC_000008.11:143920870:C:T p.(Ala3011Thr) NC_000008.11:143920870:C:T Identity +NM_001413013.1:c.428C>T NP_001399942.1:p.Ser143Leu NC_000012.12:110323060:C:T p.(Ser143Leu) NC_000012.12:110323060:C:T p.(Ser143Leu) NC_000012.12:110323060:C:T Identity +NM_001377260.1:c.340G>A NP_001364189.1:p.Ala114Thr NC_000001.11:231421548:C:T p.(Ala114Thr) NC_000001.11:231421548:C:T p.(Ala114Thr) NC_000001.11:231421548:C:T Identity +NM_001145661.2:c.203C>T NP_001139133.1:p.Ala68Val NC_000003.12:128486828:G:A p.(Ala68Val) NC_000003.12:128486828:G:A p.(Ala68Val) NC_000003.12:128486828:G:A Identity +NM_001171930.2:c.1720G>A NP_001165401.1:p.Glu574Lys NC_000010.11:71677660:G:A p.(Glu574Lys) NC_000010.11:71677660:G:A p.(Glu574Lys) NC_000010.11:71677660:G:A Identity +NM_001201484.2:c.1887del NP_001188413.1:p.Lys630fs NC_000009.12:35089381:A: p.(Lys630SerfsTer11) NC_000009.12:35089381:A: p.(Lys630SerfsTer11) NC_000009.12:35089381:A: Analogous +NM_015335.5:c.3292G>A NP_056150.1:p.Ala1098Thr NC_000012.12:115991661:C:T p.(Ala1098Thr) NC_000012.12:115991661:C:T p.(Ala1098Thr) NC_000012.12:115991661:C:T Identity +NM_000018.4:c.443G>C NP_000009.1:p.Ser148Thr NC_000017.11:7221023:G:C p.(Ser148Thr) NC_000017.11:7221023:G:C p.(Ser148Thr) NC_000017.11:7221023:G:C Identity +NM_001257281.2:c.23T>G NP_001244210.1:p.Met8Arg NC_000002.12:232014949:T:G p.(Met8Arg) NC_000002.12:232014949:T:G p.(Met8Arg) NC_000002.12:232014949:T:G Identity +NM_000428.3:c.3575G>C NP_000419.1:p.Cys1192Ser NC_000014.9:74508680:C:G p.(Cys1192Ser) NC_000014.9:74508680:C:G p.(Cys1192Ser) NC_000014.9:74508680:C:G Identity +NM_002838.5:c.242C>T NP_002829.3:p.Thr81Ile NC_000001.11:198696852:C:T p.(Thr81Ile) NC_000001.11:198696852:C:T p.(Thr81Ile) NC_000001.11:198696852:C:T Identity +NM_001278055.2:c.2807T>C NP_001264984.1:p.Ile936Thr NC_000013.11:23340627:A:G p.(Ile936Thr) NC_000013.11:23340627:A:G p.(Ile936Thr) NC_000013.11:23340627:A:G Identity +NM_001243571.2:c.596C>T NP_001230500.1:p.Ser199Leu NC_000011.10:95849854:G:A p.(Ser199Leu) NC_000011.10:95849854:G:A p.(Ser199Leu) NC_000011.10:95849854:G:A Identity +NM_000088.4:c.3155G>C NP_000079.2:p.Gly1052Ala NC_000017.11:50188581:C:G p.(Gly1052Ala) NC_000017.11:50188581:C:G p.(Gly1052Ala) NC_000017.11:50188581:C:G Identity +NM_004482.4:c.1391A>G NP_004473.2:p.Gln464Arg NC_000002.12:165757047:T:C p.(Gln464Arg) NC_000002.12:165757047:T:C p.(Gln464Arg) NC_000002.12:165757047:T:C Identity +NM_003052.5:c.1783C>T NP_003043.3:p.Arg595Cys NC_000005.10:177398148:C:T p.(Arg595Cys) NC_000005.10:177398148:C:T p.(Arg595Cys) NC_000005.10:177398148:C:T Identity +NM_001375644.1:c.185A>G NP_001362573.1:p.Lys62Arg NC_000004.12:145639323:A:G p.(Lys62Arg) NC_000004.12:145639323:A:G p.(Lys62Arg) NC_000004.12:145639323:A:G Identity +NM_000138.5:c.1201T>A NP_000129.3:p.Tyr401Asn NC_000015.10:48516308:A:T p.(Tyr401Asn) NC_000015.10:48516308:A:T p.(Tyr401Asn) NC_000015.10:48516308:A:T Identity +NM_001193503.2:c.1128C>A NP_001180432.1:p.Asp376Glu NC_000017.11:4956998:C:A p.(Asp376Glu) NC_000017.11:4956998:C:A p.(Asp376Glu) NC_000017.11:4956998:C:A Identity +NM_025114.4:c.5986T>G NP_079390.3:p.Leu1996Val NC_000012.12:88071318:A:C p.(Leu1996Val) NC_000012.12:88071318:A:C p.(Leu1996Val) NC_000012.12:88071318:A:C Identity +NM_001031681.3:c.588C>A NP_001026851.2:p.Asn196Lys NC_000017.11:3656701:C:A p.(Asn196Lys) NC_000017.11:3656701:C:A p.(Asn196Lys) NC_000017.11:3656701:C:A Identity +NM_001257965.2:c.1789G>A NP_001244894.1:p.Val597Ile NC_000001.11:197421823:G:A p.(Val597Ile) NC_000001.11:197421823:G:A p.(Val597Ile) NC_000001.11:197421823:G:A Identity +NM_001384158.1:c.1313C>T NP_001371087.1:p.Thr438Met NC_000014.9:91870380:G:A p.(Thr438Met) NC_000014.9:91870380:G:A p.(Thr438Met) NC_000014.9:91870380:G:A Identity +NM_001135659.3:c.1740C>A NP_001129131.1:p.Phe580Leu NC_000002.12:50552725:G:T p.(Phe580Leu) NC_000002.12:50552725:G:T p.(Phe580Leu) NC_000002.12:50552725:G:T Identity +NM_001042544.1:c.2969A>G NP_001036009.1:p.Asp990Gly NC_000019.10:40614401:A:G p.(Asp990Gly) NC_000019.10:40614401:A:G p.(Asp990Gly) NC_000019.10:40614401:A:G Identity +NM_001271933.2:c.1298del NP_001258862.1:p.Leu433fs NC_000011.10:117375771:T: p.(Leu433ArgfsTer14) NC_000011.10:117375771:T: p.(Leu433ArgfsTer14) NC_000011.10:117375771:T: Analogous +NM_000204.5:c.1492T>C NP_000195.3:p.Phe498Leu NC_000004.12:109742532:A:G p.(Phe498Leu) NC_000004.12:109742532:A:G p.(Phe498Leu) NC_000004.12:109742532:A:G Identity +NM_021798.4:c.557T>C NP_068570.1:p.Leu186Pro NC_000016.10:27444590:T:C p.(Leu186Pro) NC_000016.10:27444590:T:C p.(Leu186Pro) NC_000016.10:27444590:T:C Identity +NM_152443.3:c.58C>T NP_689656.2:p.Pro20Ser NC_000014.9:67722699:C:T p.(Pro20Ser) NC_000014.9:67722699:C:T p.(Pro20Ser) NC_000014.9:67722699:C:T Identity +NM_001277313.2:c.814_815delinsGC NP_001264242.1:p.Ser272Ala NC_000015.10:33154099:CT:GC p.(Ser272Ala) NC_000015.10:33154099:CT:GC p.(Ser272Ala) NC_000015.10:33154099:CT:GC Identity +NM_000512.5:c.513CAA[1] NP_000503.1:p.Asn172del NC_000016.10:88837669:TTGTTGT:TTGT p.(Asn172del) NC_000016.10:88837674:G:TTG ERR:Parse ERR:Parse Identity +NM_000724.4:c.302A>G NP_000715.2:p.Asn101Ser NC_000010.11:18500821:A:G p.(Asn101Ser) NC_000010.11:18500821:A:G p.(Asn101Ser) NC_000010.11:18500821:A:G Identity +NM_001018837.2:c.173A>C NP_001018238.1:p.Glu58Ala NC_000001.11:154273773:A:C p.(Glu58Ala) NC_000001.11:154273773:A:C p.(Glu58Ala) NC_000001.11:154273773:A:C Identity +NM_000018.4:c.886C>T NP_000009.1:p.Pro296Ser NC_000017.11:7222673:C:T p.(Pro296Ser) NC_000017.11:7222673:C:T p.(Pro296Ser) NC_000017.11:7222673:C:T Identity +NM_000481.4:c.878G>A NP_000472.2:p.Gly293Glu NC_000003.12:49417972:C:T p.(Gly293Glu) NC_000003.12:49417972:C:T p.(Gly293Glu) NC_000003.12:49417972:C:T Identity +NM_001142800.2:c.4451G>T NP_001136272.1:p.Trp1484Leu NC_000006.12:64591415:C:A p.(Trp1484Leu) NC_000006.12:64591415:C:A p.(Trp1484Leu) NC_000006.12:64591415:C:A Identity +NM_015346.4:c.4355G>T NP_056161.2:p.Ser1452Ile NC_000014.9:67782796:C:A p.(Ser1452Ile) NC_000014.9:67782796:C:A p.(Ser1452Ile) NC_000014.9:67782796:C:A Identity +NM_019098.5:c.1639C>T NP_061971.3:p.Pro547Ser NC_000008.11:86611610:G:A p.(Pro547Ser) NC_000008.11:86611610:G:A p.(Pro547Ser) NC_000008.11:86611610:G:A Identity +NM_001203247.2:c.265T>A NP_001190176.1:p.Leu89Met NC_000007.14:148832731:A:T p.(Leu89Met) NC_000007.14:148832731:A:T p.(Leu89Met) NC_000007.14:148832731:A:T Identity +NM_001369.3:c.8805G>A NP_001360.1:p.Met2935Ile NC_000005.10:13786193:C:T p.(Met2935Ile) NC_000005.10:13786193:C:T p.(Met2935Ile) NC_000005.10:13786193:C:T Identity +NM_001368263.1:c.239C>T NP_001355192.1:p.Ser80Leu NC_000003.12:45400248:C:T p.(Ser80Leu) NC_000003.12:45400248:C:T p.(Ser80Leu) NC_000003.12:45400248:C:T Identity +NM_001184751.2:c.1873G>A NP_001171680.1:p.Ala625Thr NC_000011.10:46705596:G:A p.(Ala625Thr) NC_000011.10:46705596:G:A p.(Ala625Thr) NC_000011.10:46705596:G:A Identity +NM_001160227.2:c.2630C>T NP_001153699.1:p.Ser877Leu NC_000015.10:44620393:G:A p.(Ser877Leu) NC_000015.10:44620393:G:A p.(Ser877Leu) NC_000015.10:44620393:G:A Identity +NM_152468.5:c.838C>T NP_689681.2:p.Arg280Cys NC_000017.11:78134414:C:T p.(Arg280Cys) NC_000017.11:78134414:C:T p.(Arg280Cys) NC_000017.11:78134414:C:T Identity +NM_001018041.2:c.11G>A NP_001018051.1:p.Arg4His NC_000006.12:145735487:C:T p.(Arg4His) NC_000006.12:145735487:C:T p.(Arg4His) NC_000006.12:145735487:C:T Identity +NM_001379200.1:c.115G>A NP_001366129.1:p.Ala39Thr NC_000022.11:19760957:G:A p.(Ala39Thr) NC_000022.11:19760957:G:A p.(Ala39Thr) NC_000022.11:19760957:G:A Identity +NM_001142800.2:c.8410G>T NP_001136272.1:p.Val2804Leu NC_000006.12:63721620:C:A p.(Val2804Leu) NC_000006.12:63721620:C:A p.(Val2804Leu) NC_000006.12:63721620:C:A Identity +NM_001372.4:c.11825C>T NP_001363.2:p.Ala3942Val NC_000017.11:11923888:C:T p.(Ala3942Val) NC_000017.11:11923888:C:T p.(Ala3942Val) NC_000017.11:11923888:C:T Identity +NM_001206927.2:c.2756A>G NP_001193856.1:p.Asp919Gly NC_000006.12:38790379:A:G p.(Asp919Gly) NC_000006.12:38790379:A:G p.(Asp919Gly) NC_000006.12:38790379:A:G Identity +NM_004525.3:c.481A>G NP_004516.2:p.Ser161Gly NC_000002.12:169294656:T:C p.(Ser161Gly) NC_000002.12:169294656:T:C p.(Ser161Gly) NC_000002.12:169294656:T:C Identity +NM_001289905.2:c.17G>A NP_001276834.1:p.Ser6Asn NC_000022.11:17085107:G:A p.(Ser6Asn) NC_000022.11:17085107:G:A p.(Ser6Asn) NC_000022.11:17085107:G:A Identity +NM_001282225.2:c.565G>T NP_001269154.1:p.Val189Leu NC_000022.11:17203750:C:A p.(Val189Leu) NC_000022.11:17203750:C:A p.(Val189Leu) NC_000022.11:17203750:C:A Identity +NM_000246.4:c.978G>C NP_000237.2:p.Glu326Asp NC_000016.10:10904783:G:C p.(Glu326Asp) NC_000016.10:10904783:G:C p.(Glu326Asp) NC_000016.10:10904783:G:C Identity +NM_001319945.2:c.124T>A NP_001306874.1:p.Tyr42Asn NC_000017.11:44071088:T:A p.(Tyr42Asn) NC_000017.11:44071088:T:A p.(Tyr42Asn) NC_000017.11:44071088:T:A Identity +NM_001375836.1:c.1142G>A NP_001362765.1:p.Arg381His NC_000002.12:174571662:C:T p.(Arg381His) NC_000002.12:174571662:C:T p.(Arg381His) NC_000002.12:174571662:C:T Identity +NM_175053.4:c.1228G>A NP_778223.2:p.Ala410Thr NC_000012.12:52568295:C:T p.(Ala410Thr) NC_000012.12:52568295:C:T p.(Ala410Thr) NC_000012.12:52568295:C:T Identity +NM_020693.4:c.5321G>T NP_065744.3:p.Gly1774Val NC_000011.10:117431586:C:A p.(Gly1774Val) NC_000011.10:117431586:C:A p.(Gly1774Val) NC_000011.10:117431586:C:A Identity +NM_005220.3:c.472G>A NP_005211.1:p.Glu158Lys NC_000017.11:49993443:C:T p.(Glu158Lys) NC_000017.11:49993443:C:T p.(Glu158Lys) NC_000017.11:49993443:C:T Identity +NM_001126105.3:c.683T>C NP_001119577.1:p.Ile228Thr NC_000014.9:22778879:A:G p.(Ile228Thr) NC_000014.9:22778879:A:G p.(Ile228Thr) NC_000014.9:22778879:A:G Identity +NM_001080463.2:c.8726C>T NP_001073932.1:p.Ala2909Val NC_000011.10:103215751:C:T p.(Ala2909Val) NC_000011.10:103215751:C:T p.(Ala2909Val) NC_000011.10:103215751:C:T Identity +NM_000264.5:c.3127T>G NP_000255.2:p.Cys1043Gly NC_000009.12:95458053:A:C p.(Cys1043Gly) NC_000009.12:95458053:A:C p.(Cys1043Gly) NC_000009.12:95458053:A:C Identity +NM_017780.4:c.5420A>G NP_060250.2:p.Asn1807Ser NC_000008.11:60850507:A:G p.(Asn1807Ser) NC_000008.11:60850507:A:G p.(Asn1807Ser) NC_000008.11:60850507:A:G Identity +NM_000068.4:c.1376A>T NP_000059.3:p.Lys459Ile NC_000019.10:13317293:T:A p.(Lys459Ile) NC_000019.10:13317293:T:A p.(Lys459Ile) NC_000019.10:13317293:T:A Identity +NM_001004426.3:c.154A>G NP_001004426.1:p.Asn52Asp NC_000022.11:38169272:T:C p.(Asn52Asp) NC_000022.11:38169272:T:C p.(Asn52Asp) NC_000022.11:38169272:T:C Identity +NM_001355016.2:c.802C>T NP_001341945.1:p.Arg268Trp NC_000005.10:150132882:G:A p.(Arg268Trp) NC_000005.10:150132882:G:A p.(Arg268Trp) NC_000005.10:150132882:G:A Identity +NM_017547.4:c.1033A>G NP_060017.1:p.Thr345Ala NC_000011.10:126276454:A:G p.(Thr345Ala) NC_000011.10:126276454:A:G p.(Thr345Ala) NC_000011.10:126276454:A:G Identity +NM_032806.6:c.1682G>A NP_116195.2:p.Arg561His NC_000003.12:43079749:C:T p.(Arg561His) NC_000003.12:43079749:C:T p.(Arg561His) NC_000003.12:43079749:C:T Identity +NM_006623.4:c.1120G>C NP_006614.2:p.Val374Leu NC_000001.11:119741807:G:C p.(Val374Leu) NC_000001.11:119741807:G:C p.(Val374Leu) NC_000001.11:119741807:G:C Identity +NM_001136191.3:c.925C>T NP_001129663.1:p.Arg309Trp NC_000019.10:11193154:G:A p.(Arg309Trp) NC_000019.10:11193154:G:A p.(Arg309Trp) NC_000019.10:11193154:G:A Identity +NM_001135999.2:c.4009C>T NP_001129471.2:p.Arg1337Trp NC_000009.12:35560648:C:T p.(Arg1337Trp) NC_000009.12:35560648:C:T p.(Arg1337Trp) NC_000009.12:35560648:C:T Identity +NM_001184720.2:c.865G>T NP_001171649.1:p.Gly289Trp NC_000003.12:149026795:G:T p.(Gly289Trp) NC_000003.12:149026795:G:T p.(Gly289Trp) NC_000003.12:149026795:G:T Identity +NM_001195227.2:c.2466C>A NP_001182156.1:p.Phe822Leu NC_000019.10:49200732:C:A p.(Phe822Leu) NC_000019.10:49200732:C:A p.(Phe822Leu) NC_000019.10:49200732:C:A Identity +NM_000214.3:c.1277C>T NP_000205.1:p.Ser426Phe NC_000020.11:10649592:G:A p.(Ser426Phe) NC_000020.11:10649592:G:A p.(Ser426Phe) NC_000020.11:10649592:G:A Identity +NM_001324112.2:c.943A>G NP_001311041.1:p.Met315Val NC_000008.11:64615139:T:C p.(Met315Val) NC_000008.11:64615139:T:C p.(Met315Val) NC_000008.11:64615139:T:C Identity +NM_017890.5:c.8565C>A NP_060360.3:p.Asp2855Glu NC_000008.11:99818756:C:A p.(Asp2855Glu) NC_000008.11:99818756:C:A p.(Asp2855Glu) NC_000008.11:99818756:C:A Identity +NM_001323082.2:c.32A>C NP_001310011.1:p.Gln11Pro NC_000010.11:13300010:T:G p.(Gln11Pro) NC_000010.11:13300010:T:G p.(Gln11Pro) NC_000010.11:13300010:T:G Identity +NM_152594.3:c.1225G>A NP_689807.1:p.Ala409Thr NC_000015.10:38351553:G:A p.(Ala409Thr) NC_000015.10:38351553:G:A p.(Ala409Thr) NC_000015.10:38351553:G:A Identity +NM_000531.6:c.32A>G NP_000522.3:p.Asn11Ser NC_000023.11:38352727:A:G p.(Asn11Ser) NC_000023.11:38352727:A:G p.(Asn11Ser) NC_000023.11:38352727:A:G Identity +NM_199242.3:c.3013G>A NP_954712.1:p.Asp1005Asn NC_000017.11:75828924:C:T p.(Asp1005Asn) NC_000017.11:75828924:C:T p.(Asp1005Asn) NC_000017.11:75828924:C:T Identity +NM_001032283.3:c.5C>T NP_001027454.1:p.Pro2Leu NC_000012.12:98515871:C:T p.(Pro2Leu) NC_000012.12:98515871:C:T p.(Pro2Leu) NC_000012.12:98515871:C:T Identity +NM_001144881.2:c.817C>T NP_001138353.1:p.His273Tyr NC_000012.12:42465216:G:A p.(His273Tyr) NC_000012.12:42465216:G:A p.(His273Tyr) NC_000012.12:42465216:G:A Identity +NM_000138.5:c.6605T>C NP_000129.3:p.Met2202Thr NC_000015.10:48434604:A:G p.(Met2202Thr) NC_000015.10:48434604:A:G p.(Met2202Thr) NC_000015.10:48434604:A:G Identity +NM_001168298.2:c.727A>G NP_001161770.1:p.Met243Val NC_000002.12:218135527:A:G p.(Met243Val) NC_000002.12:218135527:A:G p.(Met243Val) NC_000002.12:218135527:A:G Identity +NM_000170.3:c.1020G>C NP_000161.2:p.Leu340Phe NC_000009.12:6604625:C:G p.(Leu340Phe) NC_000009.12:6604625:C:G p.(Leu340Phe) NC_000009.12:6604625:C:G Identity +NM_001136493.3:c.866C>G NP_001129965.1:p.Ser289Cys NC_000001.11:39966831:C:G p.(Ser289Cys) NC_000001.11:39966831:C:G p.(Ser289Cys) NC_000001.11:39966831:C:G Identity +NM_005045.4:c.2872C>G NP_005036.2:p.Leu958Val NC_000007.14:103611633:G:C p.(Leu958Val) NC_000007.14:103611633:G:C p.(Leu958Val) NC_000007.14:103611633:G:C Identity +NM_005914.4:c.1193C>T NP_005905.2:p.Pro398Leu NC_000008.11:47969815:C:T p.(Pro398Leu) NC_000008.11:47969815:C:T p.(Pro398Leu) NC_000008.11:47969815:C:T Identity +NM_030665.4:c.4624C>T NP_109590.3:p.Arg1542Trp NC_000017.11:17797571:C:T p.(Arg1542Trp) NC_000017.11:17797571:C:T p.(Arg1542Trp) NC_000017.11:17797571:C:T Identity +NM_003184.4:c.3070C>G NP_003175.2:p.Pro1024Ala NC_000008.11:119746742:G:C p.(Pro1024Ala) NC_000008.11:119746742:G:C p.(Pro1024Ala) NC_000008.11:119746742:G:C Identity +NM_001303256.3:c.706G>C NP_001290185.1:p.Glu236Gln NC_000022.11:30941550:C:G p.(Glu236Gln) NC_000022.11:30941550:C:G p.(Glu236Gln) NC_000022.11:30941550:C:G Identity +NM_173551.5:c.2057G>A NP_775822.3:p.Arg686Gln NC_000009.12:98768165:C:T p.(Arg686Gln) NC_000009.12:98768165:C:T p.(Arg686Gln) NC_000009.12:98768165:C:T Identity +NM_001201543.2:c.1168G>A NP_001188472.1:p.Glu390Lys NC_000002.12:61839835:C:T p.(Glu390Lys) NC_000002.12:61839835:C:T p.(Glu390Lys) NC_000002.12:61839835:C:T Identity +NM_000246.4:c.385G>A NP_000237.2:p.Gly129Ser NC_000016.10:10898950:G:A p.(Gly129Ser) NC_000016.10:10898950:G:A p.(Gly129Ser) NC_000016.10:10898950:G:A Identity +NM_206933.4:c.6737C>A NP_996816.3:p.Ala2246Asp NC_000001.11:215993087:G:T p.(Ala2246Asp) NC_000001.11:215993087:G:T p.(Ala2246Asp) NC_000001.11:215993087:G:T Identity +NM_001362843.2:c.7016C>T NP_001349772.1:p.Ala2339Val NC_000022.11:41178804:C:T p.(Ala2339Val) NC_000022.11:41178804:C:T p.(Ala2339Val) NC_000022.11:41178804:C:T Identity +NM_001291088.2:c.4830A>C NP_001278017.1:p.Glu1610Asp NC_000019.10:37888840:T:G p.(Glu1610Asp) NC_000019.10:37888840:T:G p.(Glu1610Asp) NC_000019.10:37888840:T:G Identity +NM_001191028.3:c.893T>C NP_001177957.2:p.Ile298Thr NC_000007.14:129000546:A:G p.(Ile298Thr) NC_000007.14:129000546:A:G p.(Ile298Thr) NC_000007.14:129000546:A:G Identity +NM_001330311.2:c.430C>T NP_001317240.1:p.Arg144Trp NC_000001.11:1342088:G:A p.(Arg144Trp) NC_000001.11:1342088:G:A p.(Arg144Trp) NC_000001.11:1342088:G:A Identity +NM_001172696.2:c.710A>T NP_001166167.1:p.Tyr237Phe NC_000012.12:57796251:A:T p.(Tyr237Phe) NC_000012.12:57796251:A:T p.(Tyr237Phe) NC_000012.12:57796251:A:T Identity +NM_020338.4:c.700A>C NP_065071.1:p.Ile234Leu NC_000010.11:79291117:A:C p.(Ile234Leu) NC_000010.11:79291117:A:C p.(Ile234Leu) NC_000010.11:79291117:A:C Identity +NM_001046.3:c.52G>T NP_001037.1:p.Val18Phe NC_000005.10:128084005:G:T p.(Val18Phe) NC_000005.10:128084005:G:T p.(Val18Phe) NC_000005.10:128084005:G:T Identity +NM_001035.3:c.8795A>T NP_001026.2:p.Tyr2932Phe NC_000001.11:237674810:A:T p.(Tyr2932Phe) NC_000001.11:237674810:A:T p.(Tyr2932Phe) NC_000001.11:237674810:A:T Identity +NM_001271999.2:c.4328G>A NP_001258928.1:p.Arg1443His NC_000001.11:62510600:C:T p.(Arg1443His) NC_000001.11:62510600:C:T p.(Arg1443His) NC_000001.11:62510600:C:T Identity +NM_052844.4:c.44G>C NP_443076.2:p.Ser15Thr NC_000009.12:128656682:C:G p.(Ser15Thr) NC_000009.12:128656682:C:G p.(Ser15Thr) NC_000009.12:128656682:C:G Identity +NM_022124.6:c.5920G>A NP_071407.4:p.Ala1974Thr NC_000010.11:71789038:G:A p.(Ala1974Thr) NC_000010.11:71789038:G:A p.(Ala1974Thr) NC_000010.11:71789038:G:A Identity +NM_032444.4:c.4576C>T NP_115820.2:p.Pro1526Ser NC_000016.10:3589061:G:A p.(Pro1526Ser) NC_000016.10:3589061:G:A p.(Pro1526Ser) NC_000016.10:3589061:G:A Identity +NM_001306079.2:c.2335C>T NP_001293008.1:p.Arg779Cys NC_000002.12:27232102:C:T p.(Arg779Cys) NC_000002.12:27232102:C:T p.(Arg779Cys) NC_000002.12:27232102:C:T Identity +NM_000719.7:c.2047C>G NP_000710.5:p.Gln683Glu NC_000012.12:2581740:C:G p.(Gln683Glu) NC_000012.12:2581740:C:G p.(Gln683Glu) NC_000012.12:2581740:C:G Identity +NM_004998.4:c.2984C>T NP_004989.2:p.Pro995Leu NC_000015.10:59153685:G:A p.(Pro995Leu) NC_000015.10:59153685:G:A p.(Pro995Leu) NC_000015.10:59153685:G:A Identity +NM_001447.3:c.9281C>G NP_001438.1:p.Ser3094Trp NC_000005.10:151534554:G:C p.(Ser3094Trp) NC_000005.10:151534554:G:C p.(Ser3094Trp) NC_000005.10:151534554:G:C Identity +NM_022124.6:c.6232C>A NP_071407.4:p.Leu2078Met NC_000010.11:71791313:C:A p.(Leu2078Met) NC_000010.11:71791313:C:A p.(Leu2078Met) NC_000010.11:71791313:C:A Identity +NM_000124.4:c.2752G>A NP_000115.1:p.Gly918Ser NC_000010.11:49472985:C:T p.(Gly918Ser) NC_000010.11:49472985:C:T p.(Gly918Ser) NC_000010.11:49472985:C:T Identity +NM_000035.4:c.1A>G NP_000026.2:p.Met1Val NC_000009.12:101430886:T:C p.(Met1Val) NC_000009.12:101430886:T:C p.Met1? NC_000009.12:101430886:T:C Identity +NM_001278055.2:c.8622T>G NP_001264984.1:p.Asn2874Lys NC_000013.11:23334812:A:C p.(Asn2874Lys) NC_000013.11:23334812:A:C p.(Asn2874Lys) NC_000013.11:23334812:A:C Identity +NM_001010892.3:c.511G>C NP_001010892.1:p.Ala171Pro NC_000006.12:116617133:G:C p.(Ala171Pro) NC_000006.12:116617133:G:C p.(Ala171Pro) NC_000006.12:116617133:G:C Identity +NM_006231.4:c.2798T>A NP_006222.2:p.Val933Asp NC_000012.12:132661592:A:T p.(Val933Asp) NC_000012.12:132661592:A:T p.(Val933Asp) NC_000012.12:132661592:A:T Identity +NM_031310.3:c.1024C>T NP_112600.1:p.Arg342Trp NC_000019.10:17365440:G:A p.(Arg342Trp) NC_000019.10:17365440:G:A p.(Arg342Trp) NC_000019.10:17365440:G:A Identity +NM_001193503.2:c.533A>G NP_001180432.1:p.Asn178Ser NC_000017.11:4955291:A:G p.(Asn178Ser) NC_000017.11:4955291:A:G p.(Asn178Ser) NC_000017.11:4955291:A:G Identity +NM_001258215.1:c.1781T>C NP_001245144.1:p.Ile594Thr NC_000001.11:67390120:T:C p.(Ile594Thr) NC_000001.11:67390120:T:C p.(Ile594Thr) NC_000001.11:67390120:T:C Identity +NM_001282750.2:c.1988G>A NP_001269679.1:p.Arg663Gln NC_000001.11:172602145:G:A p.(Arg663Gln) NC_000001.11:172602145:G:A p.(Arg663Gln) NC_000001.11:172602145:G:A Identity +NM_001256063.2:c.436G>A NP_001242992.1:p.Val146Ile NC_000012.12:40924591:G:A p.(Val146Ile) NC_000012.12:40924591:G:A p.(Val146Ile) NC_000012.12:40924591:G:A Identity +NM_004998.4:c.2917C>A NP_004989.2:p.Pro973Thr NC_000015.10:59153752:G:T p.(Pro973Thr) NC_000015.10:59153752:G:T p.(Pro973Thr) NC_000015.10:59153752:G:T Identity +NM_001320480.2:c.376G>C NP_001307409.1:p.Ala126Pro NC_000021.9:37065610:C:G p.(Ala126Pro) NC_000021.9:37065610:C:G p.(Ala126Pro) NC_000021.9:37065610:C:G Identity +NM_001001890.3:c.409G>A NP_001001890.1:p.Val137Ile NC_000021.9:34880574:C:T p.(Val137Ile) NC_000021.9:34880574:C:T p.(Val137Ile) NC_000021.9:34880574:C:T Identity +NM_001127698.2:c.1049G>A NP_001121170.1:p.Arg350Gln NC_000005.10:148099271:G:A p.(Arg350Gln) NC_000005.10:148099271:G:A p.(Arg350Gln) NC_000005.10:148099271:G:A Identity +NM_020408.6:c.229T>G NP_065141.3:p.Ser77Ala NC_000006.12:5109469:A:C p.(Ser77Ala) NC_000006.12:5109469:A:C p.(Ser77Ala) NC_000006.12:5109469:A:C Identity +NM_014510.3:c.12247A>G NP_055325.2:p.Thr4083Ala NC_000007.14:82915738:T:C p.(Thr4083Ala) NC_000007.14:82915738:T:C p.(Thr4083Ala) NC_000007.14:82915738:T:C Identity +NM_001305275.2:c.3064T>A NP_001292204.1:p.Ser1022Thr NC_000001.11:1046548:T:A p.(Ser1022Thr) NC_000001.11:1046548:T:A p.(Ser1022Thr) NC_000001.11:1046548:T:A Identity +NM_001136191.3:c.2248G>A NP_001129663.1:p.Gly750Arg NC_000019.10:11170211:C:T p.(Gly750Arg) NC_000019.10:11170211:C:T p.(Gly750Arg) NC_000019.10:11170211:C:T Identity +NM_001406540.1:c.3833A>G NP_001393469.1:p.Gln1278Arg NC_000013.11:51934873:T:C p.(Gln1278Arg) NC_000013.11:51934873:T:C p.(Gln1278Arg) NC_000013.11:51934873:T:C Identity +NM_001142805.2:c.76G>C NP_001136277.1:p.Gly26Arg NC_000023.11:153688649:G:C p.(Gly26Arg) NC_000023.11:153688649:G:C p.(Gly26Arg) NC_000023.11:153688649:G:C Identity +NM_001271208.2:c.4568C>T NP_001258137.2:p.Pro1523Leu NC_000002.12:151669069:G:A p.(Pro1523Leu) NC_000002.12:151669069:G:A p.(Pro1523Leu) NC_000002.12:151669069:G:A Identity +NM_001204830.2:c.970C>T NP_001191759.1:p.Arg324Cys NC_000002.12:99162926:C:T p.(Arg324Cys) NC_000002.12:99162926:C:T p.(Arg324Cys) NC_000002.12:99162926:C:T Identity +NM_000293.3:c.2755C>A NP_000284.1:p.Gln919Lys NC_000016.10:47689164:C:A p.(Gln919Lys) NC_000016.10:47689164:C:A p.(Gln919Lys) NC_000016.10:47689164:C:A Identity +NM_001077525.3:c.142G>A NP_001070993.1:p.Gly48Arg NC_000003.12:9649724:G:A p.(Gly48Arg) NC_000003.12:9649724:G:A p.(Gly48Arg) NC_000003.12:9649724:G:A Identity +NM_000687.4:c.46G>C NP_000678.1:p.Ala16Pro NC_000020.11:34295567:C:G p.(Ala16Pro) NC_000020.11:34295567:C:G p.(Ala16Pro) NC_000020.11:34295567:C:G Identity +NM_016013.4:c.730C>T NP_057097.2:p.Arg244Cys NC_000015.10:41394887:G:A p.(Arg244Cys) NC_000015.10:41394887:G:A p.(Arg244Cys) NC_000015.10:41394887:G:A Identity +NM_007123.6:c.3962A>C NP_009054.6:p.Gln1321Pro NC_000001.11:216198433:T:G p.(Gln1321Pro) NC_000001.11:216198433:T:G p.(Gln1321Pro) NC_000001.11:216198433:T:G Identity +NM_001321978.2:c.836T>C NP_001308907.1:p.Phe279Ser NC_000010.11:26742496:T:C p.(Phe279Ser) NC_000010.11:26742496:T:C p.(Phe279Ser) NC_000010.11:26742496:T:C Identity +NM_000016.6:c.11G>T NP_000007.1:p.Gly4Val NC_000001.11:75724797:G:T p.(Gly4Val) NC_000001.11:75724797:G:T p.(Gly4Val) NC_000001.11:75724797:G:T Identity +NM_001164507.2:c.906G>A NP_001157979.2:p.Met302Ile NC_000002.12:151710454:C:T p.(Met302Ile) NC_000002.12:151710454:C:T p.(Met302Ile) NC_000002.12:151710454:C:T Identity +NM_001164507.2:c.502A>G NP_001157979.2:p.Ser168Gly NC_000002.12:151724861:T:C p.(Ser168Gly) NC_000002.12:151724861:T:C p.(Ser168Gly) NC_000002.12:151724861:T:C Identity +NM_000275.3:c.1763G>A NP_000266.2:p.Arg588Gln NC_000015.10:27957608:C:T p.(Arg588Gln) NC_000015.10:27957608:C:T p.(Arg588Gln) NC_000015.10:27957608:C:T Identity +NM_000719.7:c.6041T>C NP_000710.5:p.Val2014Ala NC_000012.12:2688702:T:C p.(Val2014Ala) NC_000012.12:2688702:T:C p.(Val2014Ala) NC_000012.12:2688702:T:C Identity +NM_000264.5:c.2230C>G NP_000255.2:p.Leu744Val NC_000009.12:95468770:G:C p.(Leu744Val) NC_000009.12:95468770:G:C p.(Leu744Val) NC_000009.12:95468770:G:C Identity +NM_000109.4:c.5062A>T NP_000100.3:p.Ile1688Phe NC_000023.11:32364649:T:A p.(Ile1688Phe) NC_000023.11:32364649:T:A p.(Ile1688Phe) NC_000023.11:32364649:T:A Identity +NM_001278689.2:c.1442A>G NP_001265618.1:p.His481Arg NC_000003.12:68977759:T:C p.(His481Arg) NC_000003.12:68977759:T:C p.(His481Arg) NC_000003.12:68977759:T:C Identity +NM_001024732.4:c.385G>A NP_001019903.3:p.Ala129Thr NC_000001.11:29203170:C:T p.(Ala129Thr) NC_000001.11:29203170:C:T p.(Ala129Thr) NC_000001.11:29203170:C:T Identity +NM_020949.3:c.1009G>A NP_066000.2:p.Val337Ile NC_000003.12:170483419:C:T p.(Val337Ile) NC_000003.12:170483419:C:T p.(Val337Ile) NC_000003.12:170483419:C:T Identity +NM_001382817.3:c.185C>T NP_001369746.2:p.Pro62Leu NC_000001.11:230710638:G:A p.(Pro62Leu) NC_000001.11:230710638:G:A p.(Pro62Leu) NC_000001.11:230710638:G:A Identity +NM_001321431.2:c.7004G>A NP_001308360.1:p.Arg2335His NC_000019.10:8085445:C:T p.(Arg2335His) NC_000019.10:8085445:C:T p.(Arg2335His) NC_000019.10:8085445:C:T Identity +NM_000784.4:c.851A>G NP_000775.1:p.Lys284Arg NC_000002.12:218812929:A:G p.(Lys284Arg) NC_000002.12:218812929:A:G p.(Lys284Arg) NC_000002.12:218812929:A:G Identity +NM_000109.4:c.6958A>G NP_000100.3:p.Lys2320Glu NC_000023.11:31875303:T:C p.(Lys2320Glu) NC_000023.11:31875303:T:C p.(Lys2320Glu) NC_000023.11:31875303:T:C Identity +NM_001178075.2:c.1273C>T NP_001171546.1:p.His425Tyr NC_000007.14:97853199:G:A p.(His425Tyr) NC_000007.14:97853199:G:A p.(His425Tyr) NC_000007.14:97853199:G:A Identity +NM_032520.5:c.382G>A NP_115909.1:p.Ala128Thr NC_000016.10:1362101:G:A p.(Ala128Thr) NC_000016.10:1362101:G:A p.(Ala128Thr) NC_000016.10:1362101:G:A Identity +NM_000135.4:c.11C>T NP_000126.2:p.Ser4Leu NC_000016.10:89816604:G:A p.(Ser4Leu) NC_000016.10:89816604:G:A p.(Ser4Leu) NC_000016.10:89816604:G:A Identity +NM_001018037.2:c.7048A>G NP_001018047.1:p.Ile2350Val NC_000009.12:77345017:A:G p.(Ile2350Val) NC_000009.12:77345017:A:G p.(Ile2350Val) NC_000009.12:77345017:A:G Identity +NM_001130698.2:c.1051C>T NP_001124170.1:p.Arg351Ter NC_000004.12:121925142:G:A p.(Arg351Ter) NC_000004.12:121925142:G:A p.(Arg351Ter) NC_000004.12:121925142:G:A Identity +NM_032806.6:c.1072G>A NP_116195.2:p.Gly358Arg NC_000003.12:43080359:C:T p.(Gly358Arg) NC_000003.12:43080359:C:T p.(Gly358Arg) NC_000003.12:43080359:C:T Identity +NM_001144996.2:c.1547T>C NP_001138468.1:p.Ile516Thr NC_000012.12:55697247:A:G p.(Ile516Thr) NC_000012.12:55697247:A:G p.(Ile516Thr) NC_000012.12:55697247:A:G Identity +NM_001010895.4:c.1985A>G NP_001010895.2:p.Lys662Arg NC_000009.12:95966598:A:G p.(Lys662Arg) NC_000009.12:95966598:A:G p.(Lys662Arg) NC_000009.12:95966598:A:G Identity +NM_004525.3:c.2417A>G NP_004516.2:p.Lys806Arg NC_000002.12:169259120:T:C p.(Lys806Arg) NC_000002.12:169259120:T:C p.(Lys806Arg) NC_000002.12:169259120:T:C Identity +NM_001291285.3:c.11123A>G NP_001278214.1:p.Asn3708Ser NC_000004.12:125452132:A:G p.(Asn3708Ser) NC_000004.12:125452132:A:G p.(Asn3708Ser) NC_000004.12:125452132:A:G Identity +NM_001160227.2:c.3893C>G NP_001153699.1:p.Ala1298Gly NC_000015.10:44598372:G:C p.(Ala1298Gly) NC_000015.10:44598372:G:C p.(Ala1298Gly) NC_000015.10:44598372:G:C Identity +NM_001329434.2:c.2054G>C NP_001316363.2:p.Gly685Ala NC_000007.14:135607303:G:C p.(Gly685Ala) NC_000007.14:135607303:G:C p.(Gly685Ala) NC_000007.14:135607303:G:C Identity +NM_001193640.2:c.218C>T NP_001180569.1:p.Pro73Leu NC_000001.11:197328568:C:T p.(Pro73Leu) NC_000001.11:197328568:C:T p.(Pro73Leu) NC_000001.11:197328568:C:T Identity +NM_001037131.3:c.2090C>T NP_001032208.1:p.Thr697Met NC_000002.12:236049256:C:T p.(Thr697Met) NC_000002.12:236049256:C:T p.(Thr697Met) NC_000002.12:236049256:C:T Identity +NM_015335.5:c.166A>G NP_056150.1:p.Ile56Val NC_000012.12:116237611:T:C p.(Ile56Val) NC_000012.12:116237611:T:C p.(Ile56Val) NC_000012.12:116237611:T:C Identity +NM_001378454.1:c.4864G>C NP_001365383.1:p.Glu1622Gln NC_000002.12:73451390:G:C p.(Glu1622Gln) NC_000002.12:73451390:G:C p.(Glu1622Gln) NC_000002.12:73451390:G:C Identity +NM_004031.4:c.39_40del NP_004022.2:p.Pro14fs NC_000011.10:615278:GAGAG:GAG p.(Pro14AlafsTer27) NC_000011.10:615278:GAGAG:GAG p.(Pro14AlafsTer27) NC_000011.10:615278:GA: Analogous +NM_001410755.1:c.2363C>T NP_001397684.1:p.Pro788Leu NC_000001.11:15731214:C:T p.(Pro788Leu) NC_000001.11:15731214:C:T p.(Pro788Leu) NC_000001.11:15731214:C:T Identity +NM_001113378.2:c.2467C>T NP_001106849.1:p.Gln823Ter NC_000015.10:89294924:C:T p.(Gln823Ter) NC_000015.10:89294924:C:T p.(Gln823Ter) NC_000015.10:89294924:C:T Identity +NM_001015880.2:c.1322A>T NP_001015880.1:p.His441Leu NC_000010.11:87743471:A:T p.(His441Leu) NC_000010.11:87743471:A:T p.(His441Leu) NC_000010.11:87743471:A:T Identity +NM_001005862.3:c.479G>A NP_001005862.1:p.Arg160Gln NC_000017.11:39709446:G:A p.(Arg160Gln) NC_000017.11:39709446:G:A p.(Arg160Gln) NC_000017.11:39709446:G:A Identity +NM_018706.7:c.721A>G NP_061176.4:p.Met241Val NC_000010.11:12088988:A:G p.(Met241Val) NC_000010.11:12088988:A:G p.(Met241Val) NC_000010.11:12088988:A:G Identity +NM_024747.6:c.769G>A NP_079023.2:p.Gly257Ser NC_000010.11:102066242:G:A p.(Gly257Ser) NC_000010.11:102066242:G:A p.(Gly257Ser) NC_000010.11:102066242:G:A Identity +NM_001329434.2:c.3374G>A NP_001316363.2:p.Arg1125Gln NC_000007.14:135622893:G:A p.(Arg1125Gln) NC_000007.14:135622893:G:A p.(Arg1125Gln) NC_000007.14:135622893:G:A Identity +NM_001272003.2:c.3442G>A NP_001258932.1:p.Asp1148Asn NC_000009.12:135791807:G:A p.(Asp1148Asn) NC_000009.12:135791807:G:A p.(Asp1148Asn) NC_000009.12:135791807:G:A Identity +NM_001410755.1:c.1496A>T NP_001397684.1:p.Asp499Val NC_000001.11:15727627:A:T p.(Asp499Val) NC_000001.11:15727627:A:T p.(Asp499Val) NC_000001.11:15727627:A:T Identity +NM_001145293.2:c.1144G>A NP_001138765.1:p.Ala382Thr NC_000003.12:25733933:C:T p.(Ala382Thr) NC_000003.12:25733933:C:T p.(Ala382Thr) NC_000003.12:25733933:C:T Identity +NM_001291411.2:c.3070A>G NP_001278340.2:p.Met1024Val NC_000021.9:33552300:A:G p.(Met1024Val) NC_000021.9:33552300:A:G p.(Met1024Val) NC_000021.9:33552300:A:G Identity +NM_001044.5:c.625G>T NP_001035.1:p.Gly209Trp NC_000005.10:1432491:C:A p.(Gly209Trp) NC_000005.10:1432491:C:A p.(Gly209Trp) NC_000005.10:1432491:C:A Identity +NM_001306153.1:c.943G>A NP_001293082.1:p.Ala315Thr NC_000005.10:10261571:G:A p.(Ala315Thr) NC_000005.10:10261571:G:A p.(Ala315Thr) NC_000005.10:10261571:G:A Identity +NM_001171930.2:c.1427G>C NP_001165401.1:p.Gly476Ala NC_000010.11:71646594:G:C p.(Gly476Ala) NC_000010.11:71646594:G:C p.(Gly476Ala) NC_000010.11:71646594:G:C Identity +NM_000383.4:c.1553C>T NP_000374.1:p.Ser518Phe NC_000021.9:44296431:C:T p.(Ser518Phe) NC_000021.9:44296431:C:T p.(Ser518Phe) NC_000021.9:44296431:C:T Identity +NM_000520.6:c.1087G>T NP_000511.2:p.Val363Phe NC_000015.10:72347744:C:A p.(Val363Phe) NC_000015.10:72347744:C:A p.(Val363Phe) NC_000015.10:72347744:C:A Identity +NM_001256053.2:c.4733G>A NP_001242982.1:p.Arg1578Lys NC_000010.11:27013098:C:T p.(Arg1578Lys) NC_000010.11:27013098:C:T p.(Arg1578Lys) NC_000010.11:27013098:C:T Identity +NM_001170794.2:c.2321C>T NP_001164265.1:p.Ala774Val NC_000006.12:89932612:G:A p.(Ala774Val) NC_000006.12:89932612:G:A p.(Ala774Val) NC_000006.12:89932612:G:A Identity +NM_001849.4:c.2485C>G NP_001840.3:p.Gln829Glu NC_000021.9:46131976:C:G p.(Gln829Glu) NC_000021.9:46131976:C:G p.(Gln829Glu) NC_000021.9:46131976:C:G Identity +NM_001032409.3:c.53A>G NP_001027581.1:p.Asp18Gly NC_000012.12:112907091:A:G p.(Asp18Gly) NC_000012.12:112907091:A:G p.(Asp18Gly) NC_000012.12:112907091:A:G Identity +NM_001127487.2:c.2833A>G NP_001120959.1:p.Thr945Ala NC_000007.14:128843816:A:G p.(Thr945Ala) NC_000007.14:128843816:A:G p.(Thr945Ala) NC_000007.14:128843816:A:G Identity +NM_001369.3:c.9890C>T NP_001360.1:p.Ala3297Val NC_000005.10:13768966:G:A p.(Ala3297Val) NC_000005.10:13768966:G:A p.(Ala3297Val) NC_000005.10:13768966:G:A Identity +NM_001130009.3:c.2261T>C NP_001123481.3:p.Val754Ala NC_000002.12:17781472:T:C p.(Val754Ala) NC_000002.12:17781472:T:C p.(Val754Ala) NC_000002.12:17781472:T:C Identity +NM_005555.4:c.1484G>A NP_005546.2:p.Ser495Asn NC_000012.12:52447400:C:T p.(Ser495Asn) NC_000012.12:52447400:C:T p.(Ser495Asn) NC_000012.12:52447400:C:T Identity +NM_001005862.3:c.1180G>A NP_001005862.1:p.Val394Ile NC_000017.11:39715492:G:A p.(Val394Ile) NC_000017.11:39715492:G:A p.(Val394Ile) NC_000017.11:39715492:G:A Identity +NM_001283009.2:c.2405G>A NP_001269938.1:p.Arg802Lys NC_000020.11:63690432:G:A p.(Arg802Lys) NC_000020.11:63690432:G:A p.(Arg802Lys) NC_000020.11:63690432:G:A Identity +NM_001410908.1:c.3188T>C NP_001397837.1:p.Met1063Thr NC_000007.14:105107644:T:C p.(Met1063Thr) NC_000007.14:105107644:T:C p.(Met1063Thr) NC_000007.14:105107644:T:C Identity +NM_000528.4:c.2006C>G NP_000519.2:p.Pro669Arg NC_000019.10:12652192:G:C p.(Pro669Arg) NC_000019.10:12652192:G:C p.(Pro669Arg) NC_000019.10:12652192:G:C Identity +NM_032119.4:c.1663T>C NP_115495.3:p.Tyr555His NC_000005.10:90629362:T:C p.(Tyr555His) NC_000005.10:90629362:T:C p.(Tyr555His) NC_000005.10:90629362:T:C Identity +NM_001193375.3:c.244G>A NP_001180304.1:p.Glu82Lys NC_000019.10:5896521:C:T p.(Glu82Lys) NC_000019.10:5896521:C:T p.(Glu82Lys) NC_000019.10:5896521:C:T Identity +NM_001040147.3:c.833A>G NP_001035237.1:p.Gln278Arg NC_000018.10:63804324:A:G p.(Gln278Arg) NC_000018.10:63804324:A:G p.(Gln278Arg) NC_000018.10:63804324:A:G Identity +NM_005618.4:c.1879G>A NP_005609.3:p.Ala627Thr NC_000006.12:170283399:C:T p.(Ala627Thr) NC_000006.12:170283399:C:T p.(Ala627Thr) NC_000006.12:170283399:C:T Identity +NM_004975.4:c.1841G>A NP_004966.1:p.Ser614Asn NC_000020.11:49373718:C:T p.(Ser614Asn) NC_000020.11:49373718:C:T p.(Ser614Asn) NC_000020.11:49373718:C:T Identity +NM_001321431.2:c.2588C>T NP_001308360.1:p.Thr863Met NC_000019.10:8126313:G:A p.(Thr863Met) NC_000019.10:8126313:G:A p.(Thr863Met) NC_000019.10:8126313:G:A Identity +NM_025114.4:c.6249_6252del NP_079390.3:p.Asn2083fs NC_000012.12:88063998:TTTATTT:TTT p.(Asn2083LysfsTer6) NC_000012.12:88063998:TTTATTT:TTT p.(Asn2083LysfsTer6) NC_000012.12:88063998:TTTA: Analogous +NM_024747.6:c.70G>A NP_079023.2:p.Glu24Lys NC_000010.11:102065543:G:A p.(Glu24Lys) NC_000010.11:102065543:G:A p.(Glu24Lys) NC_000010.11:102065543:G:A Identity +NM_001346813.1:c.1178C>G NP_001333742.1:p.Ala393Gly NC_000006.12:156779106:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001353765.2:c.106T>C NP_001340694.1:p.Ser36Pro NC_000002.12:29223390:A:G p.(Ser36Pro) NC_000002.12:29223390:A:G p.(Ser36Pro) NC_000002.12:29223390:A:G Identity +NM_003906.5:c.3284A>T NP_003897.2:p.Asp1095Val NC_000021.9:46264167:T:A p.(Asp1095Val) NC_000021.9:46264167:T:A p.(Asp1095Val) NC_000021.9:46264167:T:A Identity +NM_000135.4:c.674G>A NP_000126.2:p.Cys225Tyr NC_000016.10:89805314:C:T p.(Cys225Tyr) NC_000016.10:89805314:C:T p.(Cys225Tyr) NC_000016.10:89805314:C:T Identity +NM_001165963.4:c.2951T>G NP_001159435.1:p.Leu984Arg NC_000002.12:166036525:A:C p.(Leu984Arg) NC_000002.12:166036525:A:C p.(Leu984Arg) NC_000002.12:166036525:A:C Identity +NM_000089.4:c.2539G>A NP_000080.2:p.Gly847Ser NC_000007.14:94423091:G:A p.(Gly847Ser) NC_000007.14:94423091:G:A p.(Gly847Ser) NC_000007.14:94423091:G:A Identity +NM_000419.5:c.199G>A NP_000410.2:p.Val67Met NC_000017.11:44386120:C:T p.(Val67Met) NC_000017.11:44386120:C:T p.(Val67Met) NC_000017.11:44386120:C:T Identity +NM_000718.4:c.3346G>A NP_000709.1:p.Val1116Met NC_000009.12:138043832:G:A p.(Val1116Met) NC_000009.12:138043832:G:A p.(Val1116Met) NC_000009.12:138043832:G:A Identity +NM_001346279.2:c.3437A>T NP_001333208.1:p.Asp1146Val NC_000011.10:10779091:A:T p.(Asp1146Val) NC_000011.10:10779091:A:T p.(Asp1146Val) NC_000011.10:10779091:A:T Identity +NM_001376.5:c.12679G>A NP_001367.2:p.Ala4227Thr NC_000014.9:102044039:G:A p.(Ala4227Thr) NC_000014.9:102044039:G:A p.(Ala4227Thr) NC_000014.9:102044039:G:A Identity +NM_000388.4:c.493G>A NP_000379.3:p.Val165Ile NC_000003.12:122261527:G:A p.(Val165Ile) NC_000003.12:122261527:G:A p.(Val165Ile) NC_000003.12:122261527:G:A Identity +NM_001174116.3:c.1478G>A NP_001167587.1:p.Arg493Gln NC_000015.10:51537626:C:T p.(Arg493Gln) NC_000015.10:51537626:C:T p.(Arg493Gln) NC_000015.10:51537626:C:T Identity +NM_000336.3:c.1087G>A NP_000327.2:p.Val363Met NC_000016.10:23371817:G:A p.(Val363Met) NC_000016.10:23371817:G:A p.(Val363Met) NC_000016.10:23371817:G:A Identity +NM_001349346.2:c.281T>C NP_001336275.1:p.Ile94Thr NC_000008.11:37766316:T:C p.(Ile94Thr) NC_000008.11:37766316:T:C p.(Ile94Thr) NC_000008.11:37766316:T:C Identity +NM_152424.4:c.1153G>C NP_689637.3:p.Glu385Gln NC_000023.11:64192133:C:G p.(Glu385Gln) NC_000023.11:64192133:C:G p.(Glu385Gln) NC_000023.11:64192133:C:G Identity +NM_001012727.2:c.550_551inv NP_001012745.1:p.Lys184Leu NC_000009.12:136674748:TT:AA p.(Lys184Leu) NC_000009.12:136674748:TT:AA p.(Lys184Leu) ERR:SPDI Identity +NM_001261428.3:c.1235G>A NP_001248357.1:p.Gly412Asp NC_000002.12:11782330:G:A p.(Gly412Asp) NC_000002.12:11782330:G:A p.(Gly412Asp) NC_000002.12:11782330:G:A Identity +NM_001447.3:c.9469G>A NP_001438.1:p.Glu3157Lys NC_000005.10:151531928:C:T p.(Glu3157Lys) NC_000005.10:151531928:C:T p.(Glu3157Lys) NC_000005.10:151531928:C:T Identity +NM_001165928.4:c.1618C>G NP_001159400.3:p.Leu540Val NC_000003.12:49532128:C:G p.(Leu540Val) NC_000003.12:49532128:C:G p.(Leu540Val) NC_000003.12:49532128:C:G Identity +NM_001311255.1:c.397A>C NP_001298184.1:p.Lys133Gln NC_000015.10:45605496:A:C p.(Lys133Gln) NC_000015.10:45605496:A:C p.(Lys133Gln) NC_000015.10:45605496:A:C Identity +NM_000083.3:c.442T>C NP_000074.3:p.Trp148Arg NC_000007.14:143321372:T:C p.(Trp148Arg) NC_000007.14:143321372:T:C p.(Trp148Arg) NC_000007.14:143321372:T:C Identity +NM_001301339.2:c.161G>A NP_001288268.1:p.Gly54Glu NC_000022.11:23767473:C:T p.(Gly54Glu) NC_000022.11:23767473:C:T p.(Gly54Glu) NC_000022.11:23767473:C:T Identity +NM_001135597.2:c.4646C>G NP_001129069.1:p.Ser1549Cys NC_000002.12:55301894:G:C p.(Ser1549Cys) NC_000002.12:55301894:G:C p.(Ser1549Cys) NC_000002.12:55301894:G:C Identity +NM_001349608.2:c.4214G>C NP_001336537.1:p.Ser1405Thr NC_000001.11:7744955:G:C p.(Ser1405Thr) NC_000001.11:7744955:G:C p.(Ser1405Thr) NC_000001.11:7744955:G:C Identity +NM_001242307.2:c.1255G>A NP_001229236.1:p.Gly419Arg NC_000010.11:3157526:C:T p.(Gly419Arg) NC_000010.11:3157526:C:T p.(Gly419Arg) NC_000010.11:3157526:C:T Identity +NM_001193493.2:c.373G>A NP_001180422.1:p.Val125Met NC_000002.12:65018581:G:A p.(Val125Met) NC_000002.12:65018581:G:A p.(Val125Met) NC_000002.12:65018581:G:A Identity +NM_001318399.1:c.409G>A NP_001305328.1:p.Val137Ile NC_000011.10:47840493:C:T p.(Val137Ile) NC_000011.10:47840493:C:T p.(Val137Ile) NC_000011.10:47840493:C:T Identity +NM_000489.6:c.2536G>C NP_000480.3:p.Asp846His NC_000023.11:77682719:C:G p.(Asp846His) NC_000023.11:77682719:C:G p.(Asp846His) NC_000023.11:77682719:C:G Identity +NM_005477.3:c.886A>G NP_005468.1:p.Ile296Val NC_000015.10:73343707:T:C p.(Ile296Val) NC_000015.10:73343707:T:C p.(Ile296Val) NC_000015.10:73343707:T:C Identity +NM_000066.4:c.231C>A NP_000057.3:p.Asp77Glu NC_000001.11:56960037:G:T p.(Asp77Glu) NC_000001.11:56960037:G:T p.(Asp77Glu) NC_000001.11:56960037:G:T Identity +NM_001006600.3:c.1186A>G NP_001006600.1:p.Met396Val NC_000005.10:66028322:A:G p.(Met396Val) NC_000005.10:66028322:A:G p.(Met396Val) NC_000005.10:66028322:A:G Identity +NM_006734.4:c.4807C>T NP_006725.3:p.Arg1603Trp NC_000006.12:142769931:G:A p.(Arg1603Trp) NC_000006.12:142769931:G:A p.(Arg1603Trp) NC_000006.12:142769931:G:A Identity +NM_001351225.2:c.1735G>A NP_001338154.1:p.Glu579Lys NC_000017.11:6589932:C:T p.(Glu579Lys) NC_000017.11:6589932:C:T p.(Glu579Lys) NC_000017.11:6589932:C:T Identity +NM_001257158.2:c.208A>G NP_001244087.1:p.Ile70Val NC_000007.14:130411190:T:C p.(Ile70Val) NC_000007.14:130411190:T:C p.(Ile70Val) NC_000007.14:130411190:T:C Identity +NM_001330311.2:c.71C>T NP_001317240.1:p.Ala24Val NC_000001.11:1348994:G:A p.(Ala24Val) NC_000001.11:1348994:G:A p.(Ala24Val) NC_000001.11:1348994:G:A Identity +NM_001198798.2:c.899C>T NP_001185727.1:p.Ala300Val NC_000010.11:72128139:G:A p.(Ala300Val) NC_000010.11:72128139:G:A p.(Ala300Val) NC_000010.11:72128139:G:A Identity +NM_001145853.1:c.1483C>T NP_001139325.1:p.His495Tyr NC_000004.12:6301277:C:T p.(His495Tyr) NC_000004.12:6301277:C:T p.(His495Tyr) NC_000004.12:6301277:C:T Identity +NM_007254.4:c.1391G>T NP_009185.2:p.Arg464Leu NC_000019.10:49861505:C:A p.(Arg464Leu) NC_000019.10:49861505:C:A p.(Arg464Leu) NC_000019.10:49861505:C:A Identity +NM_000135.4:c.98A>G NP_000126.2:p.Glu33Gly NC_000016.10:89815967:T:C p.(Glu33Gly) NC_000016.10:89815967:T:C p.(Glu33Gly) NC_000016.10:89815967:T:C Identity +NM_001352252.2:c.704T>C NP_001339181.1:p.Val235Ala NC_000013.11:110642447:A:G p.(Val235Ala) NC_000013.11:110642447:A:G p.(Val235Ala) NC_000013.11:110642447:A:G Identity +NM_000936.4:c.64G>A NP_000927.1:p.Glu22Lys NC_000010.11:116547310:G:A p.(Glu22Lys) NC_000010.11:116547310:G:A p.(Glu22Lys) NC_000010.11:116547310:G:A Identity +NM_000254.3:c.2180A>G NP_000245.2:p.Lys727Arg NC_000001.11:236861260:A:G p.(Lys727Arg) NC_000001.11:236861260:A:G p.(Lys727Arg) NC_000001.11:236861260:A:G Identity +NM_002470.4:c.4204G>A NP_002461.2:p.Glu1402Lys NC_000017.11:10634991:C:T p.(Glu1402Lys) NC_000017.11:10634991:C:T p.(Glu1402Lys) NC_000017.11:10634991:C:T Identity +NM_001447.3:c.12854G>C NP_001438.1:p.Gly4285Ala NC_000005.10:151505760:C:G p.(Gly4285Ala) NC_000005.10:151505760:C:G p.(Gly4285Ala) NC_000005.10:151505760:C:G Identity +NM_014254.3:c.59C>G NP_055069.1:p.Ser20Cys NC_000012.12:63780018:C:G p.(Ser20Cys) NC_000012.12:63780018:C:G p.(Ser20Cys) NC_000012.12:63780018:C:G Identity +NM_001001957.2:c.755A>G NP_001001957.2:p.Tyr252Cys NC_000001.11:247896340:A:G p.(Tyr252Cys) NC_000001.11:247896340:A:G p.(Tyr252Cys) NC_000001.11:247896340:A:G Identity +NM_001142800.2:c.3262T>A NP_001136272.1:p.Cys1088Ser NC_000006.12:64813558:A:T p.(Cys1088Ser) NC_000006.12:64813558:A:T p.(Cys1088Ser) NC_000006.12:64813558:A:T Identity +NM_001283009.2:c.2718G>C NP_001269938.1:p.Glu906Asp NC_000020.11:63692869:G:C p.(Glu906Asp) NC_000020.11:63692869:G:C p.(Glu906Asp) NC_000020.11:63692869:G:C Identity +NM_000383.4:c.946C>T NP_000374.1:p.Arg316Trp NC_000021.9:44291160:C:T p.(Arg316Trp) NC_000021.9:44291160:C:T p.(Arg316Trp) NC_000021.9:44291160:C:T Identity +NM_000135.4:c.3851C>A NP_000126.2:p.Ala1284Asp NC_000016.10:89740076:G:T p.(Ala1284Asp) NC_000016.10:89740076:G:T p.(Ala1284Asp) NC_000016.10:89740076:G:T Identity +NM_025114.4:c.2227C>T NP_079390.3:p.Leu743Phe NC_000012.12:88111341:G:A p.(Leu743Phe) NC_000012.12:88111341:G:A p.(Leu743Phe) NC_000012.12:88111341:G:A Identity +NM_014727.3:c.1345G>T NP_055542.1:p.Ala449Ser NC_000019.10:35720691:G:T p.(Ala449Ser) NC_000019.10:35720691:G:T p.(Ala449Ser) NC_000019.10:35720691:G:T Identity +NM_001370534.1:c.2129A>G NP_001357463.1:p.Asn710Ser NC_000016.10:74626394:T:C p.(Asn710Ser) NC_000016.10:74626394:T:C p.(Asn710Ser) NC_000016.10:74626394:T:C Identity +NM_206933.4:c.12199A>C NP_996816.3:p.Ser4067Arg NC_000001.11:215680243:T:G p.(Ser4067Arg) NC_000001.11:215680243:T:G p.(Ser4067Arg) NC_000001.11:215680243:T:G Identity +NM_015512.5:c.6851C>T NP_056327.4:p.Pro2284Leu NC_000003.12:52372918:C:T p.(Pro2284Leu) NC_000003.12:52372918:C:T p.(Pro2284Leu) NC_000003.12:52372918:C:T Identity +NM_001128204.2:c.2534C>G NP_001121676.1:p.Pro845Arg NC_000008.11:69638840:C:G p.(Pro845Arg) NC_000008.11:69638840:C:G p.(Pro845Arg) NC_000008.11:69638840:C:G Identity +NM_001195139.2:c.613A>G NP_001182068.2:p.Ile205Val NC_000016.10:70512351:T:C p.(Ile205Val) NC_000016.10:70512351:T:C p.(Ile205Val) NC_000016.10:70512351:T:C Identity +NM_024306.5:c.10G>T NP_077282.3:p.Ala4Ser NC_000016.10:74774745:C:A p.(Ala4Ser) NC_000016.10:74774745:C:A p.(Ala4Ser) NC_000016.10:74774745:C:A Identity +NM_000038.6:c.2605A>G NP_000029.2:p.Asn869Asp NC_000005.10:112838198:A:G p.(Asn869Asp) NC_000005.10:112838198:A:G p.(Asn869Asp) NC_000005.10:112838198:A:G Identity +NM_001164098.2:c.1979G>A NP_001157570.1:p.Gly660Asp NC_000005.10:83520284:G:A p.(Gly660Asp) NC_000005.10:83520284:G:A p.(Gly660Asp) NC_000005.10:83520284:G:A Identity +NM_001371928.1:c.3197G>T NP_001358857.1:p.Gly1066Val NC_000001.11:27548918:C:A p.(Gly1066Val) NC_000001.11:27548918:C:A p.(Gly1066Val) NC_000001.11:27548918:C:A Identity +NM_015346.4:c.250del NP_056161.2:p.Glu84fs NC_000014.9:67814008:CC:C p.(Glu84ArgfsTer44) NC_000014.9:67814008:CC:C p.(Glu84ArgfsTer44) NC_000014.9:67814008:C: Analogous +NM_001046.3:c.2761C>T NP_001037.1:p.Arg921Cys NC_000005.10:128171703:C:T p.(Arg921Cys) NC_000005.10:128171703:C:T p.(Arg921Cys) NC_000005.10:128171703:C:T Identity +NM_001377486.1:c.128C>T NP_001364415.1:p.Pro43Leu NC_000016.10:81356917:C:T p.(Pro43Leu) NC_000016.10:81356917:C:T p.(Pro43Leu) NC_000016.10:81356917:C:T Identity +NM_001128844.3:c.1608G>C NP_001122316.1:p.Glu536Asp NC_000019.10:10996226:G:C p.(Glu536Asp) NC_000019.10:10996226:G:C p.(Glu536Asp) NC_000019.10:10996226:G:C Identity +NM_001316690.1:c.1117C>T NP_001303619.1:p.Leu373Phe NC_000008.11:60742548:C:T p.(Leu373Phe) NC_000008.11:60742548:C:T p.(Leu373Phe) NC_000008.11:60742548:C:T Identity +NM_145059.3:c.2230G>A NP_659496.2:p.Gly744Ser NC_000016.10:70474863:G:A p.(Gly744Ser) NC_000016.10:70474863:G:A p.(Gly744Ser) NC_000016.10:70474863:G:A Identity +NM_001164507.2:c.4735G>A NP_001157979.2:p.Ala1579Thr NC_000002.12:151666385:C:T p.(Ala1579Thr) NC_000002.12:151666385:C:T p.(Ala1579Thr) NC_000002.12:151666385:C:T Identity +NM_001122957.4:c.743A>G NP_001116429.1:p.Asn248Ser NC_000016.10:31111116:A:G p.(Asn248Ser) NC_000016.10:31111116:A:G p.(Asn248Ser) NC_000016.10:31111116:A:G Identity +NM_001351059.2:c.1160C>G NP_001337988.1:p.Ser387Cys NC_000011.10:68050001:C:G p.(Ser387Cys) NC_000011.10:68050001:C:G p.(Ser387Cys) NC_000011.10:68050001:C:G Identity +NM_001318491.2:c.586G>A NP_001305420.1:p.Glu196Lys NC_000013.11:20598698:G:A p.(Glu196Lys) NC_000013.11:20598698:G:A p.(Glu196Lys) NC_000013.11:20598698:G:A Identity +NM_001184891.2:c.1178G>A NP_001171820.1:p.Arg393Gln NC_000001.11:154990442:G:A p.(Arg393Gln) NC_000001.11:154990442:G:A p.(Arg393Gln) NC_000001.11:154990442:G:A Identity +NM_001143990.2:c.1081G>A NP_001137462.1:p.Ala361Thr NC_000017.11:7702468:G:A p.(Ala361Thr) NC_000017.11:7702468:G:A p.(Ala361Thr) NC_000017.11:7702468:G:A Identity +NM_001351693.2:c.3579A>G NP_001338622.1:p.Leu1193= NC_000019.10:39425243:A:G p.(Leu1193=) NC_000019.10:39425243:A:G p.(Leu1193=) NC_000019.10:39425243:A:G Identity +NM_001127892.2:c.2272C>T NP_001121364.1:p.Pro758Ser NC_000016.10:51139658:G:A p.(Pro758Ser) NC_000016.10:51139658:G:A p.(Pro758Ser) NC_000016.10:51139658:G:A Identity +NM_001290020.2:c.689A>T NP_001276949.1:p.Glu230Val NC_000010.11:27983972:T:A p.(Glu230Val) NC_000010.11:27983972:T:A p.(Glu230Val) NC_000010.11:27983972:T:A Identity +NM_001207000.1:c.83C>T NP_001193929.1:p.Ser28Phe NC_000004.12:82429607:G:A p.(Ser28Phe) NC_000004.12:82429607:G:A p.(Ser28Phe) NC_000004.12:82429607:G:A Identity +NM_080679.3:c.4466G>A NP_542410.2:p.Arg1489Gln NC_000006.12:33164927:C:T p.(Arg1489Gln) NC_000006.12:33164927:C:T p.(Arg1489Gln) NC_000006.12:33164927:C:T Identity +NM_004750.5:c.976A>G NP_004741.1:p.Ile326Val NC_000019.10:18596669:T:C p.(Ile326Val) NC_000019.10:18596669:T:C p.(Ile326Val) NC_000019.10:18596669:T:C Identity +NM_001846.4:c.3712C>G NP_001837.2:p.Pro1238Ala NC_000013.11:110495418:C:G p.(Pro1238Ala) NC_000013.11:110495418:C:G p.(Pro1238Ala) NC_000013.11:110495418:C:G Identity +NM_001135040.3:c.956T>C NP_001128512.1:p.Leu319Ser NC_000002.12:74370652:A:G p.(Leu319Ser) NC_000002.12:74370652:A:G p.(Leu319Ser) NC_000002.12:74370652:A:G Identity +NM_000821.7:c.137C>G NP_000812.2:p.Ser46Cys NC_000002.12:85560891:G:C p.(Ser46Cys) NC_000002.12:85560891:G:C p.(Ser46Cys) NC_000002.12:85560891:G:C Identity +NM_000718.4:c.6831_6832inv NP_000709.1:p.Leu2278Ile NC_000009.12:138121809:TC:GA p.(Leu2278Ile) NC_000009.12:138121809:TC:GA p.(Leu2278Ile) ERR:SPDI Identity +NM_020457.3:c.397T>C NP_065190.2:p.Ser133Pro NC_000016.10:67842950:T:C p.(Ser133Pro) NC_000016.10:67842950:T:C p.(Ser133Pro) NC_000016.10:67842950:T:C Identity +NM_005142.3:c.1054C>T NP_005133.2:p.Arg352Cys NC_000011.10:59835826:G:A p.(Arg352Cys) NC_000011.10:59835826:G:A p.(Arg352Cys) NC_000011.10:59835826:G:A Identity +NM_005055.5:c.29T>C NP_005046.2:p.Ile10Thr NC_000011.10:47448935:A:G p.(Ile10Thr) NC_000011.10:47448935:A:G p.(Ile10Thr) NC_000011.10:47448935:A:G Identity +NM_022124.6:c.4445C>T NP_071407.4:p.Ala1482Val NC_000010.11:71739728:C:T p.(Ala1482Val) NC_000010.11:71739728:C:T p.(Ala1482Val) NC_000010.11:71739728:C:T Identity +NM_001024956.3:c.16C>T NP_001020127.1:p.Arg6Cys NC_000011.10:121303390:C:T p.(Arg6Cys) NC_000011.10:121303390:C:T p.(Arg6Cys) NC_000011.10:121303390:C:T Identity +NM_001098209.2:c.569G>A NP_001091679.1:p.Arg190His NC_000003.12:41225406:G:A p.(Arg190His) NC_000003.12:41225406:G:A p.(Arg190His) NC_000003.12:41225406:G:A Identity +NM_001077516.2:c.764G>T NP_001070984.1:p.Ser255Ile NC_000006.12:33202391:G:T p.(Ser255Ile) NC_000006.12:33202391:G:T p.(Ser255Ile) NC_000006.12:33202391:G:T Identity +NM_025114.4:c.5230C>T NP_079390.3:p.Leu1744Phe NC_000012.12:88079225:G:A p.(Leu1744Phe) NC_000012.12:88079225:G:A p.(Leu1744Phe) NC_000012.12:88079225:G:A Identity +NM_001365999.1:c.2395C>T NP_001352928.1:p.Leu799Phe NC_000001.11:43424355:C:T p.(Leu799Phe) NC_000001.11:43424355:C:T p.(Leu799Phe) NC_000001.11:43424355:C:T Identity +NM_001321038.2:c.1717C>T NP_001307967.1:p.Arg573Cys NC_000001.11:108924115:C:T p.(Arg573Cys) NC_000001.11:108924115:C:T p.(Arg573Cys) NC_000001.11:108924115:C:T Identity +NM_001369906.1:c.275A>G NP_001356835.1:p.His92Arg NC_000022.11:23575016:T:C p.(His92Arg) NC_000022.11:23575016:T:C p.(His92Arg) NC_000022.11:23575016:T:C Identity +NM_001033559.3:c.64C>T NP_001028731.1:p.Pro22Ser NC_000015.10:55498265:G:A p.(Pro22Ser) NC_000015.10:55498265:G:A p.(Pro22Ser) NC_000015.10:55498265:G:A Identity +NM_001184728.3:c.584C>T NP_001171657.1:p.Thr195Met NC_000020.11:45420205:C:T p.(Thr195Met) NC_000020.11:45420205:C:T p.(Thr195Met) NC_000020.11:45420205:C:T Identity +NM_000346.4:c.1067C>T NP_000337.1:p.Pro356Leu NC_000017.11:72123923:C:T p.(Pro356Leu) NC_000017.11:72123923:C:T p.(Pro356Leu) NC_000017.11:72123923:C:T Identity +NM_014423.4:c.2719G>A NP_055238.1:p.Val907Ile NC_000005.10:132889091:C:T p.(Val907Ile) NC_000005.10:132889091:C:T p.(Val907Ile) NC_000005.10:132889091:C:T Identity +NM_001290185.2:c.1589A>G NP_001277114.1:p.Gln530Arg NC_000011.10:119077923:A:G p.(Gln530Arg) NC_000011.10:119077923:A:G p.(Gln530Arg) NC_000011.10:119077923:A:G Identity +NM_000419.5:c.2568G>T NP_000410.2:p.Gln856His NC_000017.11:44375865:C:A p.(Gln856His) NC_000017.11:44375865:C:A p.(Gln856His) NC_000017.11:44375865:C:A Identity +NM_000398.7:c.116C>G NP_000389.1:p.Pro39Arg NC_000022.11:42636751:G:C p.(Pro39Arg) NC_000022.11:42636751:G:C p.(Pro39Arg) NC_000022.11:42636751:G:C Identity +NM_001127214.4:c.709G>A NP_001120686.1:p.Val237Met NC_000016.10:89102645:G:A p.(Val237Met) NC_000016.10:89102645:G:A p.(Val237Met) NC_000016.10:89102645:G:A Identity +NM_001301063.2:c.2200A>G NP_001287992.1:p.Met734Val NC_000005.10:150549731:A:G p.(Met734Val) NC_000005.10:150549731:A:G p.(Met734Val) NC_000005.10:150549731:A:G Identity +NM_001410732.1:c.390C>G NP_001397661.1:p.Phe130Leu NC_000004.12:55364098:C:G p.(Phe130Leu) NC_000004.12:55364098:C:G p.(Phe130Leu) NC_000004.12:55364098:C:G Identity +NM_001164773.2:c.141C>A NP_001158245.1:p.Phe47Leu NC_000019.10:48800094:G:T p.(Phe47Leu) NC_000019.10:48800094:G:T p.(Phe47Leu) NC_000019.10:48800094:G:T Identity +NM_001042410.2:c.272A>G NP_001035869.1:p.Tyr91Cys NC_000002.12:219232269:A:G p.(Tyr91Cys) NC_000002.12:219232269:A:G p.(Tyr91Cys) NC_000002.12:219232269:A:G Identity +NM_001330615.4:c.466A>G NP_001317544.2:p.Ser156Gly NC_000003.12:12392688:A:G p.(Ser156Gly) NC_000003.12:12392688:A:G p.(Ser156Gly) NC_000003.12:12392688:A:G Identity +NM_000033.4:c.424C>G NP_000024.2:p.Leu142Val NC_000023.11:153725689:C:G p.(Leu142Val) NC_000023.11:153725689:C:G p.(Leu142Val) NC_000023.11:153725689:C:G Identity +NM_001042544.1:c.3260G>A NP_001036009.1:p.Arg1087His NC_000019.10:40617213:G:A p.(Arg1087His) NC_000019.10:40617213:G:A p.(Arg1087His) NC_000019.10:40617213:G:A Identity +NM_001379291.1:c.3061C>A NP_001366220.1:p.His1021Asn NC_000019.10:15243007:G:T p.(His1021Asn) NC_000019.10:15243007:G:T p.(His1021Asn) NC_000019.10:15243007:G:T Identity +NM_001001957.2:c.586G>A NP_001001957.2:p.Glu196Lys NC_000001.11:247896171:G:A p.(Glu196Lys) NC_000001.11:247896171:G:A p.(Glu196Lys) NC_000001.11:247896171:G:A Identity +NM_001114331.3:c.200C>T NP_001107803.1:p.Ser67Phe NC_000016.10:1461615:G:A p.(Ser67Phe) NC_000016.10:1461615:G:A p.(Ser67Phe) NC_000016.10:1461615:G:A Identity +NM_005876.5:c.6688C>T NP_005867.3:p.Pro2230Ser NC_000002.12:219484150:C:T p.(Pro2230Ser) NC_000002.12:219484150:C:T p.(Pro2230Ser) NC_000002.12:219484150:C:T Identity +NM_001177984.3:c.2005A>G NP_001171455.1:p.Thr669Ala NC_000012.12:51745908:A:G p.(Thr669Ala) NC_000012.12:51745908:A:G p.(Thr669Ala) NC_000012.12:51745908:A:G Identity +NM_001190981.2:c.1345A>G NP_001177910.1:p.Ile449Val NC_000005.10:55952273:T:C p.(Ile449Val) NC_000005.10:55952273:T:C p.(Ile449Val) NC_000005.10:55952273:T:C Identity +NM_001254718.3:c.1307T>C NP_001241647.1:p.Leu436Ser NC_000012.12:101651248:T:C p.(Leu436Ser) NC_000012.12:101651248:T:C p.(Leu436Ser) NC_000012.12:101651248:T:C Identity +NM_001271985.2:c.671G>A NP_001258914.1:p.Arg224His NC_000011.10:125893935:C:T p.(Arg224His) NC_000011.10:125893935:C:T p.(Arg224His) NC_000011.10:125893935:C:T Identity +NM_001105077.4:c.2587T>C NP_001098547.3:p.Cys863Arg NC_000003.12:169095138:A:G p.(Cys863Arg) NC_000003.12:169095138:A:G p.(Cys863Arg) NC_000003.12:169095138:A:G Identity +NM_000419.5:c.1729C>A NP_000410.2:p.His577Asn NC_000017.11:44380024:G:T p.(His577Asn) NC_000017.11:44380024:G:T p.(His577Asn) NC_000017.11:44380024:G:T Identity +NM_004646.4:c.991G>A NP_004637.1:p.Gly331Ser NC_000019.10:35848996:C:T p.(Gly331Ser) NC_000019.10:35848996:C:T p.(Gly331Ser) NC_000019.10:35848996:C:T Identity +NM_133259.4:c.233A>G NP_573566.2:p.Lys78Arg NC_000002.12:43982350:T:C p.(Lys78Arg) NC_000002.12:43982350:T:C p.(Lys78Arg) NC_000002.12:43982350:T:C Identity +NM_005245.4:c.2246A>G NP_005236.2:p.Asn749Ser NC_000004.12:186707581:T:C p.(Asn749Ser) NC_000004.12:186707581:T:C p.(Asn749Ser) NC_000004.12:186707581:T:C Identity +NM_000252.3:c.1475C>T NP_000243.1:p.Thr492Ile NC_000023.11:150663439:C:T p.(Thr492Ile) NC_000023.11:150663439:C:T p.(Thr492Ile) NC_000023.11:150663439:C:T Identity +NM_001282512.3:c.848G>A NP_001269441.1:p.Arg283Gln NC_000022.11:19895507:C:T p.(Arg283Gln) NC_000022.11:19895507:C:T p.(Arg283Gln) NC_000022.11:19895507:C:T Identity +NM_001079802.2:c.251A>G NP_001073270.1:p.Asn84Ser NC_000009.12:105601229:A:G p.(Asn84Ser) NC_000009.12:105601229:A:G p.(Asn84Ser) NC_000009.12:105601229:A:G Identity +NM_000158.4:c.1823_1824del NP_000149.4:p.His608fs NC_000003.12:81535304:AT: p.(His608ArgfsTer4) NC_000003.12:81535304:AT: p.(His608ArgfsTer4) NC_000003.12:81535304:AT: Analogous +NM_024656.4:c.1366G>A NP_078932.2:p.Glu456Lys NC_000019.10:17579580:G:A p.(Glu456Lys) NC_000019.10:17579580:G:A p.(Glu456Lys) NC_000019.10:17579580:G:A Identity +NM_001031847.3:c.2125G>A NP_001027017.1:p.Gly709Arg NC_000011.10:68760241:C:T p.(Gly709Arg) NC_000011.10:68760241:C:T p.(Gly709Arg) NC_000011.10:68760241:C:T Identity +NM_001349608.2:c.730G>A NP_001336537.1:p.Val244Met NC_000001.11:7663366:G:A p.(Val244Met) NC_000001.11:7663366:G:A p.(Val244Met) NC_000001.11:7663366:G:A Identity +NM_000802.3:c.112A>G NP_000793.1:p.Met38Val NC_000011.10:72192284:A:G p.(Met38Val) NC_000011.10:72192284:A:G p.(Met38Val) NC_000011.10:72192284:A:G Identity +NM_001301772.2:c.13G>T NP_001288701.1:p.Gly5Trp NC_000008.11:143213279:G:T p.(Gly5Trp) NC_000008.11:143213279:G:T p.(Gly5Trp) NC_000008.11:143213279:G:T Identity +NM_001164716.1:c.1553T>C NP_001158188.1:p.Ile518Thr NC_000011.10:64751606:A:G p.(Ile518Thr) NC_000011.10:64751606:A:G p.(Ile518Thr) NC_000011.10:64751606:A:G Identity +NM_000235.4:c.547G>T NP_000226.2:p.Ala183Ser NC_000010.11:89225219:C:A p.(Ala183Ser) NC_000010.11:89225219:C:A p.(Ala183Ser) NC_000010.11:89225219:C:A Identity +NM_003014.4:c.82C>A NP_003005.2:p.Arg28Ser NC_000007.14:37916455:G:T p.(Arg28Ser) NC_000007.14:37916455:G:T p.(Arg28Ser) NC_000007.14:37916455:G:T Identity +NM_018060.4:c.2840G>A NP_060530.3:p.Arg947Gln NC_000001.11:220145596:G:A p.(Arg947Gln) NC_000001.11:220145596:G:A p.(Arg947Gln) NC_000001.11:220145596:G:A Identity +NM_001206927.2:c.3268C>T NP_001193856.1:p.Arg1090Ter NC_000006.12:38814063:C:T p.(Arg1090Ter) NC_000006.12:38814063:C:T p.(Arg1090Ter) NC_000006.12:38814063:C:T Identity +NM_001368265.1:c.250A>T NP_001355194.1:p.Ile84Leu NC_000010.11:25954954:A:T p.(Ile84Leu) NC_000010.11:25954954:A:T p.(Ile84Leu) NC_000010.11:25954954:A:T Identity +NM_000092.5:c.4036G>A NP_000083.3:p.Gly1346Ser NC_000002.12:227027946:C:T p.(Gly1346Ser) NC_000002.12:227027946:C:T p.(Gly1346Ser) NC_000002.12:227027946:C:T Identity +NM_000260.4:c.2675A>G NP_000251.3:p.Glu892Gly NC_000011.10:77180461:A:G p.(Glu892Gly) NC_000011.10:77180461:A:G p.(Glu892Gly) NC_000011.10:77180461:A:G Identity +NM_000542.5:c.149G>T NP_000533.4:p.Arg50Ile NC_000002.12:85667724:C:A p.(Arg50Ile) NC_000002.12:85667724:C:A p.(Arg50Ile) NC_000002.12:85667724:C:A Identity +NM_001378183.1:c.172C>T NP_001365112.1:p.Arg58Trp NC_000018.10:10979648:G:A p.(Arg58Trp) NC_000018.10:10979648:G:A p.(Arg58Trp) NC_000018.10:10979648:G:A Identity +NM_001128204.2:c.1813G>A NP_001121676.1:p.Ala605Thr NC_000008.11:69624159:G:A p.(Ala605Thr) NC_000008.11:69624159:G:A p.(Ala605Thr) NC_000008.11:69624159:G:A Identity +NM_001041.4:c.3742G>A NP_001032.2:p.Ala1248Thr NC_000003.12:165017564:C:T p.(Ala1248Thr) NC_000003.12:165017564:C:T p.(Ala1248Thr) NC_000003.12:165017564:C:T Identity +NM_000297.4:c.121G>C NP_000288.1:p.Ala41Pro NC_000004.12:88007853:G:C p.(Ala41Pro) NC_000004.12:88007853:G:C p.(Ala41Pro) NC_000004.12:88007853:G:C Identity +NM_001253852.3:c.1585G>A NP_001240781.1:p.Val529Ile NC_000001.11:113895963:C:T p.(Val529Ile) NC_000001.11:113895963:C:T p.(Val529Ile) NC_000001.11:113895963:C:T Identity +NM_001349608.2:c.1135G>A NP_001336537.1:p.Val379Met NC_000001.11:7663771:G:A p.(Val379Met) NC_000001.11:7663771:G:A p.(Val379Met) NC_000001.11:7663771:G:A Identity +NM_012318.3:c.506G>A NP_036450.1:p.Arg169His NC_000004.12:1841434:C:T p.(Arg169His) NC_000004.12:1841434:C:T p.(Arg169His) NC_000004.12:1841434:C:T Identity +NM_006015.6:c.4768C>T NP_006006.3:p.Pro1590Ser NC_000001.11:26774994:C:T p.(Pro1590Ser) NC_000001.11:26774994:C:T p.(Pro1590Ser) NC_000001.11:26774994:C:T Identity +NM_031935.3:c.838A>G NP_114141.2:p.Ile280Val NC_000001.11:185911717:A:G p.(Ile280Val) NC_000001.11:185911717:A:G p.(Ile280Val) NC_000001.11:185911717:A:G Identity +NM_001346279.2:c.3081A>T NP_001333208.1:p.Lys1027Asn NC_000011.10:10778735:A:T p.(Lys1027Asn) NC_000011.10:10778735:A:T p.(Lys1027Asn) NC_000011.10:10778735:A:T Identity +NM_001291411.2:c.4114A>G NP_001278340.2:p.Thr1372Ala NC_000021.9:33553344:A:G p.(Thr1372Ala) NC_000021.9:33553344:A:G p.(Thr1372Ala) NC_000021.9:33553344:A:G Identity +NM_007227.3:c.640G>A NP_009158.3:p.Ala214Thr NC_000002.12:105242497:G:A p.(Ala214Thr) NC_000002.12:105242497:G:A p.(Ala214Thr) NC_000002.12:105242497:G:A Identity +NM_014908.4:c.1082T>C NP_055723.1:p.Val361Ala NC_000009.12:128946221:A:G p.(Val361Ala) NC_000009.12:128946221:A:G p.(Val361Ala) NC_000009.12:128946221:A:G Identity +NM_000587.4:c.1436C>T NP_000578.2:p.Pro479Leu NC_000005.10:40958207:C:T p.(Pro479Leu) NC_000005.10:40958207:C:T p.(Pro479Leu) NC_000005.10:40958207:C:T Identity +NM_001018113.3:c.1243A>G NP_001018123.1:p.Lys415Glu NC_000023.11:14853121:T:C p.(Lys415Glu) NC_000023.11:14853121:T:C p.(Lys415Glu) NC_000023.11:14853121:T:C Identity +NM_000094.4:c.2048C>G NP_000085.1:p.Thr683Arg NC_000003.12:48590214:G:C p.(Thr683Arg) NC_000003.12:48590214:G:C p.(Thr683Arg) NC_000003.12:48590214:G:C Identity +NM_006059.4:c.719G>A NP_006050.3:p.Arg240Gln NC_000009.12:131032084:G:A p.(Arg240Gln) NC_000009.12:131032084:G:A p.(Arg240Gln) NC_000009.12:131032084:G:A Identity +NM_017947.4:c.2320C>T NP_060417.4:p.Arg774Cys NC_000018.10:36260085:C:T p.(Arg774Cys) NC_000018.10:36260085:C:T p.(Arg774Cys) NC_000018.10:36260085:C:T Identity +NM_153704.6:c.148G>T NP_714915.3:p.Asp50Tyr NC_000008.11:93755061:G:T p.(Asp50Tyr) NC_000008.11:93755061:G:T p.(Asp50Tyr) NC_000008.11:93755061:G:T Identity +NM_005879.3:c.931C>T NP_005870.2:p.Arg311Cys NC_000003.12:49832021:G:A p.(Arg311Cys) NC_000003.12:49832021:G:A p.(Arg311Cys) NC_000003.12:49832021:G:A Identity +NM_001321729.2:c.1127T>C NP_001308658.1:p.Met376Thr NC_000002.12:72513171:A:G p.(Met376Thr) NC_000002.12:72513171:A:G p.(Met376Thr) NC_000002.12:72513171:A:G Identity +NM_173500.4:c.2216A>G NP_775771.3:p.His739Arg NC_000015.10:42753029:T:C p.(His739Arg) NC_000015.10:42753029:T:C p.(His739Arg) NC_000015.10:42753029:T:C Identity +NM_001413018.1:c.1001A>G NP_001399947.1:p.Glu334Gly NC_000008.11:144516117:T:C p.(Glu334Gly) NC_000008.11:144516117:T:C p.(Glu334Gly) NC_000008.11:144516117:T:C Identity +NM_001143990.2:c.791T>G NP_001137462.1:p.Leu264Arg NC_000017.11:7701517:T:G p.(Leu264Arg) NC_000017.11:7701517:T:G p.(Leu264Arg) NC_000017.11:7701517:T:G Identity +NM_001291303.3:c.12622G>T NP_001278232.1:p.Ala4208Ser NC_000004.12:125481537:G:T p.(Ala4208Ser) NC_000004.12:125481537:G:T p.(Ala4208Ser) NC_000004.12:125481537:G:T Identity +NM_183075.3:c.1301A>G NP_898898.1:p.Tyr434Cys NC_000004.12:107949361:A:G p.(Tyr434Cys) NC_000004.12:107949361:A:G p.(Tyr434Cys) NC_000004.12:107949361:A:G Identity +NM_001029882.3:c.695A>G NP_001025053.1:p.Asp232Gly NC_000001.11:27551420:T:C p.(Asp232Gly) NC_000001.11:27551420:T:C p.(Asp232Gly) NC_000001.11:27551420:T:C Identity +NM_001414244.1:c.920A>G NP_001401173.1:p.Gln307Arg NC_000012.12:12184035:T:C p.(Gln307Arg) NC_000012.12:12184035:T:C p.(Gln307Arg) NC_000012.12:12184035:T:C Identity +NM_020338.4:c.155G>A NP_065071.1:p.Ser52Asn NC_000010.11:79208429:G:A p.(Ser52Asn) NC_000010.11:79208429:G:A p.(Ser52Asn) NC_000010.11:79208429:G:A Identity +NM_001320269.2:c.586G>A NP_001307198.1:p.Gly196Arg NC_000001.11:62263160:C:T p.(Gly196Arg) NC_000001.11:62263160:C:T p.(Gly196Arg) NC_000001.11:62263160:C:T Identity +NM_001942.4:c.3106C>T NP_001933.2:p.Arg1036Ter NC_000018.10:31355301:C:T p.(Arg1036Ter) NC_000018.10:31355301:C:T p.(Arg1036Ter) NC_000018.10:31355301:C:T Identity +NM_001190983.2:c.350C>T NP_001177912.1:p.Thr117Met NC_000016.10:19075816:C:T p.(Thr117Met) NC_000016.10:19075816:C:T p.(Thr117Met) NC_000016.10:19075816:C:T Identity +NM_001102.4:c.2408G>A NP_001093.1:p.Arg803His NC_000014.9:68877193:C:T p.(Arg803His) NC_000014.9:68877193:C:T p.(Arg803His) NC_000014.9:68877193:C:T Identity +NM_001127487.2:c.5750A>G NP_001120959.1:p.Asp1917Gly NC_000007.14:128852596:A:G p.(Asp1917Gly) NC_000007.14:128852596:A:G p.(Asp1917Gly) NC_000007.14:128852596:A:G Identity +NM_004304.5:c.2324T>C NP_004295.2:p.Val775Ala NC_000002.12:29239710:A:G p.(Val775Ala) NC_000002.12:29239710:A:G p.(Val775Ala) NC_000002.12:29239710:A:G Identity +NM_001313726.2:c.2180A>G NP_001300655.1:p.His727Arg NC_000011.10:26635023:A:G p.(His727Arg) NC_000011.10:26635023:A:G p.(His727Arg) NC_000011.10:26635023:A:G Identity +NM_001160227.2:c.2069A>G NP_001153699.1:p.Glu690Gly NC_000015.10:44626505:T:C p.(Glu690Gly) NC_000015.10:44626505:T:C p.(Glu690Gly) NC_000015.10:44626505:T:C Identity +NM_001367904.1:c.2518G>A NP_001354833.1:p.Ala840Thr NC_000011.10:117482003:C:T p.(Ala840Thr) NC_000011.10:117482003:C:T p.(Ala840Thr) NC_000011.10:117482003:C:T Identity +NM_001369.3:c.11129G>A NP_001360.1:p.Arg3710His NC_000005.10:13751159:C:T p.(Arg3710His) NC_000005.10:13751159:C:T p.(Arg3710His) NC_000005.10:13751159:C:T Identity +NM_001308133.2:c.3157_3160del NP_001295062.1:p.Leu1054fs NC_000014.9:45175988:AGTC: p.(Leu1054ValfsTer14) NC_000014.9:45175988:AGTC: p.(Leu1054ValfsTer14) NC_000014.9:45175988:AGTC: Analogous +NM_001046.3:c.744C>G NP_001037.1:p.Asp248Glu NC_000005.10:128084697:C:G p.(Asp248Glu) NC_000005.10:128084697:C:G p.(Asp248Glu) NC_000005.10:128084697:C:G Identity +NM_005559.4:c.8936C>T NP_005550.2:p.Thr2979Ile NC_000018.10:6943310:G:A p.(Thr2979Ile) NC_000018.10:6943310:G:A p.(Thr2979Ile) NC_000018.10:6943310:G:A Identity +NM_001098802.3:c.1349C>T NP_001092272.1:p.Pro450Leu NC_000009.12:78254929:C:T p.(Pro450Leu) NC_000009.12:78254929:C:T p.(Pro450Leu) NC_000009.12:78254929:C:T Identity +NM_001363813.1:c.146T>C NP_001350742.1:p.Met49Thr NC_000017.11:65558474:A:G p.(Met49Thr) NC_000017.11:65558474:A:G p.(Met49Thr) NC_000017.11:65558474:A:G Identity +NM_001300810.1:c.418G>A NP_001287739.1:p.Glu140Lys NC_000012.12:52362876:C:T p.(Glu140Lys) NC_000012.12:52362876:C:T p.(Glu140Lys) NC_000012.12:52362876:C:T Identity +NM_001293306.2:c.4045T>C NP_001280235.2:p.Phe1349Leu NC_000003.12:38712201:A:G p.(Phe1349Leu) NC_000003.12:38712201:A:G p.(Phe1349Leu) NC_000003.12:38712201:A:G Identity +NM_001304420.3:c.1317G>T NP_001291349.1:p.Gln439His NC_000003.12:57896517:G:T p.(Gln439His) NC_000003.12:57896517:G:T p.(Gln439His) NC_000003.12:57896517:G:T Identity +NM_002661.5:c.13G>T NP_002652.2:p.Val5Phe NC_000016.10:81786001:G:T p.(Val5Phe) NC_000016.10:81786001:G:T p.(Val5Phe) NC_000016.10:81786001:G:T Identity +NM_000216.4:c.1516C>T NP_000207.2:p.Arg506Trp NC_000023.11:8536875:G:A p.(Arg506Trp) NC_000023.11:8536875:G:A p.(Arg506Trp) NC_000023.11:8536875:G:A Identity +NM_001291860.2:c.9028G>A NP_001278789.1:p.Val3010Ile NC_000001.11:21842265:C:T p.(Val3010Ile) NC_000001.11:21842265:C:T p.(Val3010Ile) NC_000001.11:21842265:C:T Identity +NM_017780.4:c.5447G>C NP_060250.2:p.Cys1816Ser NC_000008.11:60850534:G:C p.(Cys1816Ser) NC_000008.11:60850534:G:C p.(Cys1816Ser) NC_000008.11:60850534:G:C Identity +NM_153603.4:c.1401C>G NP_705831.1:p.Asn467Lys NC_000016.10:23413455:G:C p.(Asn467Lys) NC_000016.10:23413455:G:C p.(Asn467Lys) NC_000016.10:23413455:G:C Identity +NM_020381.4:c.323G>A NP_065114.3:p.Ser108Asn NC_000006.12:107334305:C:T p.(Ser108Asn) NC_000006.12:107334305:C:T p.(Ser108Asn) NC_000006.12:107334305:C:T Identity +NM_001018088.3:c.970A>G NP_001018098.1:p.Ile324Val NC_000015.10:62010512:T:C p.(Ile324Val) NC_000015.10:62010512:T:C p.(Ile324Val) NC_000015.10:62010512:T:C Identity +NM_001164468.4:c.51G>C NP_001157940.1:p.Trp17Cys NC_000005.10:115625741:C:G p.(Trp17Cys) NC_000005.10:115625741:C:G p.(Trp17Cys) NC_000005.10:115625741:C:G Identity +NM_001146008.2:c.1628C>T NP_001139480.1:p.Ser543Phe NC_000008.11:69682337:G:A p.(Ser543Phe) NC_000008.11:69682337:G:A p.(Ser543Phe) NC_000008.11:69682337:G:A Identity +NM_004459.7:c.3854A>G NP_004450.3:p.Lys1285Arg NC_000017.11:67911359:A:G p.(Lys1285Arg) NC_000017.11:67911359:A:G p.(Lys1285Arg) NC_000017.11:67911359:A:G Identity +NM_001145860.2:c.1657A>G NP_001139332.1:p.Ile553Val NC_000008.11:98146629:A:G p.(Ile553Val) NC_000008.11:98146629:A:G p.(Ile553Val) NC_000008.11:98146629:A:G Identity +NM_001350529.1:c.1465G>A NP_001337458.1:p.Val489Met NC_000001.11:150349182:G:A p.(Val489Met) NC_000001.11:150349182:G:A p.(Val489Met) NC_000001.11:150349182:G:A Identity +NM_172364.5:c.3314A>C NP_758952.4:p.Asn1105Thr NC_000012.12:1793754:T:G p.(Asn1105Thr) NC_000012.12:1793754:T:G p.(Asn1105Thr) NC_000012.12:1793754:T:G Identity +NM_000159.4:c.1097T>C NP_000150.1:p.Met366Thr NC_000019.10:12897716:T:C p.(Met366Thr) NC_000019.10:12897716:T:C p.(Met366Thr) NC_000019.10:12897716:T:C Identity +NM_001142929.2:c.1081G>A NP_001136401.2:p.Ala361Thr NC_000010.11:49649559:G:A p.(Ala361Thr) NC_000010.11:49649559:G:A p.(Ala361Thr) NC_000010.11:49649559:G:A Identity +NM_001081640.2:c.11866G>A NP_001075109.1:p.Ala3956Thr NC_000008.11:47777768:C:T p.(Ala3956Thr) NC_000008.11:47777768:C:T p.(Ala3956Thr) NC_000008.11:47777768:C:T Identity +NM_013386.5:c.1072G>A NP_037518.3:p.Ala358Thr NC_000001.11:108143568:C:T p.(Ala358Thr) NC_000001.11:108143568:C:T p.(Ala358Thr) NC_000001.11:108143568:C:T Identity +NM_000027.4:c.809A>G NP_000018.2:p.Tyr270Cys NC_000004.12:177433344:T:C p.(Tyr270Cys) NC_000004.12:177433344:T:C p.(Tyr270Cys) NC_000004.12:177433344:T:C Identity +NM_001134477.3:c.1501A>G NP_001127949.1:p.Ser501Gly NC_000016.10:14447067:T:C p.(Ser501Gly) NC_000016.10:14447067:T:C p.(Ser501Gly) NC_000016.10:14447067:T:C Identity +NM_031935.3:c.12370C>T NP_114141.2:p.Arg4124Cys NC_000001.11:186123090:C:T p.(Arg4124Cys) NC_000001.11:186123090:C:T p.(Arg4124Cys) NC_000001.11:186123090:C:T Identity +NM_001135999.2:c.2564C>T NP_001129471.2:p.Pro855Leu NC_000009.12:35555608:C:T p.(Pro855Leu) NC_000009.12:35555608:C:T p.(Pro855Leu) NC_000009.12:35555608:C:T Identity +NM_000264.5:c.3625A>G NP_000255.2:p.Met1209Val NC_000009.12:95449247:T:C p.(Met1209Val) NC_000009.12:95449247:T:C p.(Met1209Val) NC_000009.12:95449247:T:C Identity +NM_001206999.2:c.6157G>A NP_001193928.1:p.Val2053Met NC_000012.12:119690179:C:T p.(Val2053Met) NC_000012.12:119690179:C:T p.(Val2053Met) NC_000012.12:119690179:C:T Identity +NM_001365759.2:c.305A>T NP_001352688.1:p.Glu102Val NC_000021.9:44236886:T:A p.(Glu102Val) NC_000021.9:44236886:T:A p.(Glu102Val) NC_000021.9:44236886:T:A Identity +NM_001173479.2:c.242G>A NP_001166950.1:p.Arg81Gln NC_000023.11:63697284:C:T p.(Arg81Gln) NC_000023.11:63697284:C:T p.(Arg81Gln) NC_000023.11:63697284:C:T Identity +NM_000361.3:c.80G>A NP_000352.1:p.Gly27Asp NC_000020.11:23049424:C:T p.(Gly27Asp) NC_000020.11:23049424:C:T p.(Gly27Asp) NC_000020.11:23049424:C:T Identity +NM_001005862.3:c.3451G>A NP_001005862.1:p.Val1151Ile NC_000017.11:39727816:G:A p.(Val1151Ile) NC_000017.11:39727816:G:A p.(Val1151Ile) NC_000017.11:39727816:G:A Identity +NM_201380.4:c.2801G>A NP_958782.1:p.Arg934His NC_000008.11:143930450:C:T p.(Arg934His) NC_000008.11:143930450:C:T p.(Arg934His) NC_000008.11:143930450:C:T Identity +NM_001242581.2:c.413G>A NP_001229510.1:p.Arg138Gln NC_000020.11:19956721:G:A p.(Arg138Gln) NC_000020.11:19956721:G:A p.(Arg138Gln) NC_000020.11:19956721:G:A Identity +NM_139025.5:c.3962A>T NP_620594.1:p.Asn1321Ile NC_000009.12:133457978:A:T p.(Asn1321Ile) NC_000009.12:133457978:A:T p.(Asn1321Ile) NC_000009.12:133457978:A:T Identity +NM_001033503.3:c.80A>T NP_001028675.1:p.Lys27Ile NC_000005.10:134621030:T:A p.(Lys27Ile) NC_000005.10:134621030:T:A p.(Lys27Ile) NC_000005.10:134621030:T:A Identity +NM_014241.4:c.62G>T NP_055056.3:p.Gly21Val NC_000010.11:17617277:C:A p.(Gly21Val) NC_000010.11:17617277:C:A p.(Gly21Val) NC_000010.11:17617277:C:A Identity +NM_001280541.2:c.452C>T NP_001267470.1:p.Ser151Phe NC_000003.12:129461253:C:T p.(Ser151Phe) NC_000003.12:129461253:C:T p.(Ser151Phe) NC_000003.12:129461253:C:T Identity +NM_015072.5:c.3077A>C NP_055887.3:p.Gln1026Pro NC_000014.9:75793005:A:C p.(Gln1026Pro) NC_000014.9:75793005:A:C p.(Gln1026Pro) NC_000014.9:75793005:A:C Identity +NM_001184795.1:c.725G>T NP_001171724.1:p.Arg242Leu NC_000001.11:145912173:C:A p.(Arg242Leu) NC_000001.11:145912173:C:A p.(Arg242Leu) NC_000001.11:145912173:C:A Identity +NM_144701.3:c.475G>A NP_653302.2:p.Val159Met NC_000001.11:67182942:G:A p.(Val159Met) NC_000001.11:67182942:G:A p.(Val159Met) NC_000001.11:67182942:G:A Identity +NM_001385197.1:c.829G>T NP_001372126.1:p.Val277Leu NC_000019.10:10365698:C:A p.(Val277Leu) NC_000019.10:10365698:C:A p.(Val277Leu) NC_000019.10:10365698:C:A Identity +NM_001306129.2:c.5828A>G NP_001293058.2:p.Asn1943Ser NC_000002.12:215376556:T:C p.(Asn1943Ser) NC_000002.12:215376556:T:C p.(Asn1943Ser) NC_000002.12:215376556:T:C Identity +NM_152617.4:c.1066G>A NP_689830.2:p.Ala356Thr NC_000003.12:196472468:C:T p.(Ala356Thr) NC_000003.12:196472468:C:T p.(Ala356Thr) NC_000003.12:196472468:C:T Identity +NM_001008410.2:c.783C>A NP_001008410.1:p.Cys261Ter NC_000002.12:119247968:C:A p.(Cys261Ter) NC_000002.12:119247968:C:A p.(Cys261Ter) NC_000002.12:119247968:C:A Identity +NM_032242.4:c.119C>G NP_115618.3:p.Pro40Arg NC_000003.12:126988711:C:G p.(Pro40Arg) NC_000003.12:126988711:C:G p.(Pro40Arg) NC_000003.12:126988711:C:G Identity +NM_001184985.2:c.382A>G NP_001171914.1:p.Thr128Ala NC_000012.12:753946:A:G p.(Thr128Ala) NC_000012.12:753946:A:G p.(Thr128Ala) NC_000012.12:753946:A:G Identity +NM_001367830.1:c.5017C>T NP_001354759.1:p.Arg1673Cys NC_000019.10:11208942:G:A p.(Arg1673Cys) NC_000019.10:11208942:G:A p.(Arg1673Cys) NC_000019.10:11208942:G:A Identity +NM_001283009.2:c.3271G>A NP_001269938.1:p.Asp1091Asn NC_000020.11:63694901:G:A p.(Asp1091Asn) NC_000020.11:63694901:G:A p.(Asp1091Asn) NC_000020.11:63694901:G:A Identity +NM_001018073.3:c.799C>T NP_001018083.2:p.Arg267Cys NC_000014.9:24099182:C:T p.(Arg267Cys) NC_000014.9:24099182:C:T p.(Arg267Cys) NC_000014.9:24099182:C:T Identity +NM_021076.4:c.1514C>T NP_066554.2:p.Pro505Leu NC_000022.11:29489153:C:T p.(Pro505Leu) NC_000022.11:29489153:C:T p.(Pro505Leu) NC_000022.11:29489153:C:T Identity +NM_014510.3:c.14033A>G NP_055325.2:p.His4678Arg NC_000007.14:82845283:T:C p.(His4678Arg) NC_000007.14:82845283:T:C p.(His4678Arg) NC_000007.14:82845283:T:C Identity +NM_001396110.1:c.266A>C NP_001383039.1:p.Glu89Ala NC_000005.10:178150957:T:G p.(Glu89Ala) NC_000005.10:178150957:T:G p.(Glu89Ala) NC_000005.10:178150957:T:G Identity +NM_001300895.3:c.463G>T NP_001287824.1:p.Asp155Tyr NC_000011.10:67458496:G:T p.(Asp155Tyr) NC_000011.10:67458496:G:T p.(Asp155Tyr) NC_000011.10:67458496:G:T Identity +NM_001110556.2:c.7381G>A NP_001104026.1:p.Ala2461Thr NC_000023.11:154349819:C:T p.(Ala2461Thr) NC_000023.11:154349819:C:T p.(Ala2461Thr) NC_000023.11:154349819:C:T Identity +NM_138694.4:c.10657A>G NP_619639.3:p.Ile3553Val NC_000006.12:51659468:T:C p.(Ile3553Val) NC_000006.12:51659468:T:C p.(Ile3553Val) NC_000006.12:51659468:T:C Identity +NM_001372.4:c.2155C>T NP_001363.2:p.Pro719Ser NC_000017.11:11651125:C:T p.(Pro719Ser) NC_000017.11:11651125:C:T p.(Pro719Ser) NC_000017.11:11651125:C:T Identity +NM_001318520.2:c.850A>G NP_001305449.1:p.Thr284Ala NC_000018.10:70114541:T:C p.(Thr284Ala) NC_000018.10:70114541:T:C p.(Thr284Ala) NC_000018.10:70114541:T:C Identity +NM_001352253.3:c.409G>A NP_001339182.1:p.Ala137Thr NC_000013.11:110688002:C:T p.(Ala137Thr) NC_000013.11:110688002:C:T p.(Ala137Thr) NC_000013.11:110688002:C:T Identity +NM_014714.4:c.718_720del NP_055529.2:p.Glu240del NC_000016.10:1589694:CTCC:C p.(Glu240del) NC_000016.10:1589694:CTCC:C p.(Glu240del) NC_000016.10:1589694:CTC: Identity +NM_000388.4:c.1824G>C NP_000379.3:p.Trp608Cys NC_000003.12:122283777:G:C p.(Trp608Cys) NC_000003.12:122283777:G:C p.(Trp608Cys) NC_000003.12:122283777:G:C Identity +NM_001244189.2:c.2323G>A NP_001231118.1:p.Asp775Asn NC_000014.9:58465938:G:A p.(Asp775Asn) NC_000014.9:58465938:G:A p.(Asp775Asn) NC_000014.9:58465938:G:A Identity +NM_001261406.2:c.3100C>T NP_001248335.1:p.Arg1034Ter NC_000009.12:13168519:G:A p.(Arg1034Ter) NC_000009.12:13168519:G:A p.(Arg1034Ter) NC_000009.12:13168519:G:A Identity +NM_002772.3:c.2599_2600insGATTAATAGATGAAATTGTC NP_002763.3:p.His867fs NC_000021.9:18281108:GA:GACAATTTCATCTATTAATCGA p.(His867ArgfsTer20) NC_000021.9:18281107:T:GACAATTTCATCTATTAATC p.(His867ArgfsTer20) NC_000021.9:18281108:TG:GACAATTTCATCTATTAATC Analogous +NM_014727.3:c.2053G>A NP_055542.1:p.Asp685Asn NC_000019.10:35721399:G:A p.(Asp685Asn) NC_000019.10:35721399:G:A p.(Asp685Asn) NC_000019.10:35721399:G:A Identity +NM_001283009.2:c.2285G>A NP_001269938.1:p.Arg762Gln NC_000020.11:63690312:G:A p.(Arg762Gln) NC_000020.11:63690312:G:A p.(Arg762Gln) NC_000020.11:63690312:G:A Identity +NM_000170.3:c.1579A>C NP_000161.2:p.Ser527Arg NC_000009.12:6589195:T:G p.(Ser527Arg) NC_000009.12:6589195:T:G p.(Ser527Arg) NC_000009.12:6589195:T:G Identity +NM_001164317.2:c.5080G>A NP_001157789.1:p.Asp1694Asn NC_000003.12:58138406:G:A p.(Asp1694Asn) NC_000003.12:58138406:G:A p.(Asp1694Asn) NC_000003.12:58138406:G:A Identity +NM_021147.5:c.800A>G NP_066970.3:p.Glu267Gly NC_000005.10:55231627:T:C p.(Glu267Gly) NC_000005.10:55231627:T:C p.(Glu267Gly) NC_000005.10:55231627:T:C Identity +NM_004984.4:c.136C>G NP_004975.2:p.Pro46Ala NC_000012.12:57563444:C:G p.(Pro46Ala) NC_000012.12:57563444:C:G p.(Pro46Ala) NC_000012.12:57563444:C:G Identity +NM_001278055.2:c.12346A>G NP_001264984.1:p.Thr4116Ala NC_000013.11:23331088:T:C p.(Thr4116Ala) NC_000013.11:23331088:T:C p.(Thr4116Ala) NC_000013.11:23331088:T:C Identity +NM_001351278.2:c.113C>T NP_001338207.1:p.Pro38Leu NC_000017.11:8176000:G:A p.(Pro38Leu) NC_000017.11:8176000:G:A p.(Pro38Leu) NC_000017.11:8176000:G:A Identity +NM_201262.2:c.301G>C NP_957714.1:p.Gly101Arg NC_000010.11:67811519:C:G p.(Gly101Arg) NC_000010.11:67811519:C:G p.(Gly101Arg) NC_000010.11:67811519:C:G Identity +NM_000495.5:c.3938G>A NP_000486.1:p.Arg1313Gln NC_000023.11:108680691:G:A p.(Arg1313Gln) NC_000023.11:108680691:G:A p.(Arg1313Gln) NC_000023.11:108680691:G:A Identity +NM_001197104.2:c.10195C>T NP_001184033.1:p.Pro3399Ser NC_000011.10:118506086:C:T p.(Pro3399Ser) NC_000011.10:118506086:C:T p.(Pro3399Ser) NC_000011.10:118506086:C:T Identity +NM_017890.5:c.8579A>G NP_060360.3:p.His2860Arg NC_000008.11:99818770:A:G p.(His2860Arg) NC_000008.11:99818770:A:G p.(His2860Arg) NC_000008.11:99818770:A:G Identity +NM_001161357.2:c.526C>T NP_001154829.1:p.Arg176Trp NC_000019.10:17770827:C:T p.(Arg176Trp) NC_000019.10:17770827:C:T p.(Arg176Trp) NC_000019.10:17770827:C:T Identity +NM_001351273.1:c.4309G>A NP_001338202.1:p.Ala1437Thr NC_000019.10:1467612:G:A p.(Ala1437Thr) NC_000019.10:1467612:G:A p.(Ala1437Thr) NC_000019.10:1467612:G:A Identity +NM_001080442.3:c.77C>T NP_001073911.1:p.Ser26Leu NC_000016.10:84042080:G:A p.(Ser26Leu) NC_000016.10:84042080:G:A p.(Ser26Leu) NC_000016.10:84042080:G:A Identity +NM_001037811.2:c.98A>G NP_001032900.1:p.Gln33Arg NC_000023.11:53433815:T:C p.(Gln33Arg) NC_000023.11:53433815:T:C p.(Gln33Arg) NC_000023.11:53433815:T:C Identity +NM_001351225.2:c.1084G>A NP_001338154.1:p.Glu362Lys NC_000017.11:6606900:C:T p.(Glu362Lys) NC_000017.11:6606900:C:T p.(Glu362Lys) NC_000017.11:6606900:C:T Identity +NM_006516.4:c.1342A>G NP_006507.2:p.Thr448Ala NC_000001.11:42927177:T:C p.(Thr448Ala) NC_000001.11:42927177:T:C p.(Thr448Ala) NC_000001.11:42927177:T:C Identity +NM_000920.4:c.1742G>A NP_000911.2:p.Arg581His NC_000011.10:66852521:C:T p.(Arg581His) NC_000011.10:66852521:C:T p.(Arg581His) NC_000011.10:66852521:C:T Identity +NM_001193414.2:c.1142A>G NP_001180343.1:p.Glu381Gly NC_000022.11:18131125:A:G p.(Glu381Gly) NC_000022.11:18131125:A:G p.(Glu381Gly) NC_000022.11:18131125:A:G Identity +NM_001085487.3:c.2423A>G NP_001078956.1:p.Asn808Ser NC_000001.11:58660060:T:C p.(Asn808Ser) NC_000001.11:58660060:T:C p.(Asn808Ser) NC_000001.11:58660060:T:C Identity +NM_014639.4:c.3731dup NP_055454.1:p.Ser1245fs NC_000005.10:95494752:CCC:CCCC p.(Ser1245LysfsTer7) NC_000005.10:95494752:CCC:CCCC p.(Ser1245LysfsTer7) ERR:SPDI Analogous +NM_001164277.2:c.901C>T NP_001157749.1:p.His301Tyr NC_000011.10:119026049:G:A p.(His301Tyr) NC_000011.10:119026049:G:A p.(His301Tyr) NC_000011.10:119026049:G:A Identity +NM_145059.3:c.959A>G NP_659496.2:p.Tyr320Cys NC_000016.10:70470316:A:G p.(Tyr320Cys) NC_000016.10:70470316:A:G p.(Tyr320Cys) NC_000016.10:70470316:A:G Identity +NM_000449.4:c.683G>A NP_000440.1:p.Arg228His NC_000001.11:151343754:C:T p.(Arg228His) NC_000001.11:151343754:C:T p.(Arg228His) NC_000001.11:151343754:C:T Identity +NM_001165928.4:c.2081A>G NP_001159400.3:p.Asn694Ser NC_000003.12:49532591:A:G p.(Asn694Ser) NC_000003.12:49532591:A:G p.(Asn694Ser) NC_000003.12:49532591:A:G Identity +NM_015512.5:c.12070dup NP_056327.4:p.Leu4024fs NC_000003.12:52398142:C:CC p.(Leu4024ProfsTer7) NC_000003.12:52398142:C:CC p.(Leu4024ProfsTer7) ERR:SPDI Analogous +NM_001369.3:c.4244T>C NP_001360.1:p.Ile1415Thr NC_000005.10:13865778:A:G p.(Ile1415Thr) NC_000005.10:13865778:A:G p.(Ile1415Thr) NC_000005.10:13865778:A:G Identity +NM_000118.4:c.854A>G NP_000109.1:p.Lys285Arg NC_000009.12:127824936:T:C p.(Lys285Arg) NC_000009.12:127824936:T:C p.(Lys285Arg) NC_000009.12:127824936:T:C Identity +NM_014476.6:c.500C>T NP_055291.2:p.Ala167Val NC_000004.12:185508460:G:A p.(Ala167Val) NC_000004.12:185508460:G:A p.(Ala167Val) NC_000004.12:185508460:G:A Identity +NM_004525.3:c.388G>A NP_004516.2:p.Val130Ile NC_000002.12:169307319:C:T p.(Val130Ile) NC_000002.12:169307319:C:T p.(Val130Ile) NC_000002.12:169307319:C:T Identity +NM_001195283.2:c.830C>T NP_001182212.1:p.Ala277Val NC_000014.9:75641284:C:T p.(Ala277Val) NC_000014.9:75641284:C:T p.(Ala277Val) NC_000014.9:75641284:C:T Identity +NM_007215.4:c.769C>T NP_009146.2:p.Arg257Cys NC_000017.11:64492692:G:A p.(Arg257Cys) NC_000017.11:64492692:G:A p.(Arg257Cys) NC_000017.11:64492692:G:A Identity +NM_001061.7:c.1448G>A NP_001052.3:p.Arg483His NC_000007.14:140017753:G:A p.(Arg483His) NC_000007.14:140017753:G:A p.(Arg483His) NC_000007.14:140017753:G:A Identity +NM_014639.4:c.724G>A NP_055454.1:p.Val242Met NC_000005.10:95536843:C:T p.(Val242Met) NC_000005.10:95536843:C:T p.(Val242Met) NC_000005.10:95536843:C:T Identity +NM_000088.4:c.1268C>T NP_000079.2:p.Pro423Leu NC_000017.11:50195262:G:A p.(Pro423Leu) NC_000017.11:50195262:G:A p.(Pro423Leu) NC_000017.11:50195262:G:A Identity +NM_005585.5:c.488C>T NP_005576.3:p.Ser163Leu NC_000015.10:66703745:C:T p.(Ser163Leu) NC_000015.10:66703745:C:T p.(Ser163Leu) NC_000015.10:66703745:C:T Identity +NM_001331026.2:c.2183C>T NP_001317955.1:p.Thr728Ile NC_000005.10:43659291:C:T p.(Thr728Ile) NC_000005.10:43659291:C:T p.(Thr728Ile) NC_000005.10:43659291:C:T Identity +NM_001160210.2:c.1277C>T NP_001153682.1:p.Ser426Leu NC_000007.14:96170081:G:A p.(Ser426Leu) NC_000007.14:96170081:G:A p.(Ser426Leu) NC_000007.14:96170081:G:A Identity +NM_001165963.4:c.2183A>G NP_001159435.1:p.Glu728Gly NC_000002.12:166041462:T:C p.(Glu728Gly) NC_000002.12:166041462:T:C p.(Glu728Gly) NC_000002.12:166041462:T:C Identity +NM_000243.3:c.2291G>C NP_000234.1:p.Gly764Ala NC_000016.10:3243195:C:G p.(Gly764Ala) NC_000016.10:3243195:C:G p.(Gly764Ala) NC_000016.10:3243195:C:G Identity +NM_015512.5:c.2089G>A NP_056327.4:p.Val697Met NC_000003.12:52347956:G:A p.(Val697Met) NC_000003.12:52347956:G:A p.(Val697Met) NC_000003.12:52347956:G:A Identity +NM_016239.4:c.1561C>T NP_057323.3:p.Pro521Ser NC_000017.11:18120360:C:T p.(Pro521Ser) NC_000017.11:18120360:C:T p.(Pro521Ser) NC_000017.11:18120360:C:T Identity +NM_001061.7:c.1598G>A NP_001052.3:p.Arg533His NC_000007.14:140020094:G:A p.(Arg533His) NC_000007.14:140020094:G:A p.(Arg533His) NC_000007.14:140020094:G:A Identity +NM_001297575.2:c.483del NP_001284504.1:p.Tyr162fs NC_000001.11:179559729:GG:G p.(Tyr162ThrfsTer23) NC_000001.11:179559729:GG:G p.(Tyr162ThrfsTer23) NC_000001.11:179559729:G: Analogous +NM_000263.4:c.1305C>G NP_000254.2:p.Asn435Lys NC_000017.11:42543310:C:G p.(Asn435Lys) NC_000017.11:42543310:C:G p.(Asn435Lys) NC_000017.11:42543310:C:G Identity +NM_016350.5:c.3493C>T NP_057434.4:p.Arg1165Cys NC_000014.9:50738282:G:A p.(Arg1165Cys) NC_000014.9:50738282:G:A p.(Arg1165Cys) NC_000014.9:50738282:G:A Identity +NM_001411020.1:c.1160T>C NP_001397949.1:p.Met387Thr NC_000014.9:50160023:A:G p.(Met387Thr) NC_000014.9:50160023:A:G p.(Met387Thr) NC_000014.9:50160023:A:G Identity +NM_000935.3:c.124A>G NP_000926.2:p.Ile42Val NC_000003.12:146124214:T:C p.(Ile42Val) NC_000003.12:146124214:T:C p.(Ile42Val) NC_000003.12:146124214:T:C Identity +NM_001163435.3:c.1731C>G NP_001156907.2:p.Tyr577Ter NC_000004.12:106230405:G:C p.(Tyr577Ter) NC_000004.12:106230405:G:C p.(Tyr577Ter) NC_000004.12:106230405:G:C Identity +NM_000033.4:c.1945G>A NP_000024.2:p.Asp649Asn NC_000023.11:153743299:G:A p.(Asp649Asn) NC_000023.11:153743299:G:A p.(Asp649Asn) NC_000023.11:153743299:G:A Identity +NM_001261406.2:c.4525A>G NP_001248335.1:p.Ile1509Val NC_000009.12:13126523:T:C p.(Ile1509Val) NC_000009.12:13126523:T:C p.(Ile1509Val) NC_000009.12:13126523:T:C Identity +NM_001024688.3:c.1460A>G NP_001019859.1:p.Asp487Gly NC_000008.11:89953382:T:C p.(Asp487Gly) NC_000008.11:89953382:T:C p.(Asp487Gly) NC_000008.11:89953382:T:C Identity +NM_000428.3:c.2213G>C NP_000419.1:p.Arg738Pro NC_000014.9:74528637:C:G p.(Arg738Pro) NC_000014.9:74528637:C:G p.(Arg738Pro) NC_000014.9:74528637:C:G Identity +NM_001164271.2:c.617C>G NP_001157743.1:p.Ser206Cys NC_000008.11:13100186:G:C p.(Ser206Cys) NC_000008.11:13100186:G:C p.(Ser206Cys) NC_000008.11:13100186:G:C Identity +NM_001110556.2:c.7837C>G NP_001104026.1:p.Leu2613Val NC_000023.11:154348955:G:C p.(Leu2613Val) NC_000023.11:154348955:G:C p.(Leu2613Val) NC_000023.11:154348955:G:C Identity +NM_001283009.2:c.3331C>T NP_001269938.1:p.Pro1111Ser NC_000020.11:63694961:C:T p.(Pro1111Ser) NC_000020.11:63694961:C:T p.(Pro1111Ser) NC_000020.11:63694961:C:T Identity +NM_005733.3:c.1808G>A NP_005724.1:p.Arg603Gln NC_000005.10:138184930:G:A p.(Arg603Gln) NC_000005.10:138184930:G:A p.(Arg603Gln) NC_000005.10:138184930:G:A Identity +NM_001161504.2:c.1438C>T NP_001154976.1:p.Arg480Cys NC_000001.11:18872918:G:A p.(Arg480Cys) NC_000001.11:18872918:G:A p.(Arg480Cys) NC_000001.11:18872918:G:A Identity +NM_001365999.1:c.1009G>A NP_001352928.1:p.Gly337Ser NC_000001.11:43419862:G:A p.(Gly337Ser) NC_000001.11:43419862:G:A p.(Gly337Ser) NC_000001.11:43419862:G:A Identity +NM_001199107.2:c.1075G>A NP_001186036.1:p.Glu359Lys NC_000016.10:2498328:G:A p.(Glu359Lys) NC_000016.10:2498328:G:A p.(Glu359Lys) NC_000016.10:2498328:G:A Identity +NM_001164507.2:c.21541T>C NP_001157979.2:p.Tyr7181His NC_000002.12:151531082:A:G p.(Tyr7181His) NC_000002.12:151531082:A:G p.(Tyr7181His) NC_000002.12:151531082:A:G Identity +NM_001294332.2:c.1499A>G NP_001281261.1:p.His500Arg NC_000005.10:251082:A:G p.(His500Arg) NC_000005.10:251082:A:G p.(His500Arg) NC_000005.10:251082:A:G Identity +NM_000036.3:c.146T>A NP_000027.3:p.Ile49Asn NC_000001.11:114688629:A:T p.(Ile49Asn) NC_000001.11:114688629:A:T p.(Ile49Asn) NC_000001.11:114688629:A:T Identity +NM_001319945.2:c.507G>C NP_001306874.1:p.Arg169Ser NC_000017.11:44075399:G:C p.(Arg169Ser) NC_000017.11:44075399:G:C p.(Arg169Ser) NC_000017.11:44075399:G:C Identity +NM_015548.5:c.3652G>C NP_056363.2:p.Asp1218His NC_000006.12:56610446:C:G p.(Asp1218His) NC_000006.12:56610446:C:G p.(Asp1218His) NC_000006.12:56610446:C:G Identity +NM_001319210.2:c.1640T>G NP_001306139.1:p.Leu547Arg NC_000001.11:100499146:T:G p.(Leu547Arg) NC_000001.11:100499146:T:G p.(Leu547Arg) NC_000001.11:100499146:T:G Identity +NM_001367624.2:c.9611G>T NP_001354553.1:p.Arg3204Met NC_000016.10:88437080:G:T p.(Arg3204Met) NC_000016.10:88437080:G:T p.(Arg3204Met) NC_000016.10:88437080:G:T Identity +NM_001394062.1:c.17144A>C NP_001380991.1:p.Glu5715Ala NC_000001.11:39430714:A:C p.(Glu5715Ala) NC_000001.11:39430714:A:C p.(Glu5715Ala) NC_000001.11:39430714:A:C Identity +NM_001062.4:c.166A>T NP_001053.2:p.Asn56Tyr NC_000011.10:59863999:T:A p.(Asn56Tyr) NC_000011.10:59863999:T:A p.(Asn56Tyr) NC_000011.10:59863999:T:A Identity +NM_018706.7:c.2009A>G NP_061176.4:p.Asn670Ser NC_000010.11:12106357:A:G p.(Asn670Ser) NC_000010.11:12106357:A:G p.(Asn670Ser) NC_000010.11:12106357:A:G Identity +NM_002470.4:c.3056A>G NP_002461.2:p.Asn1019Ser NC_000017.11:10639343:T:C p.(Asn1019Ser) NC_000017.11:10639343:T:C p.(Asn1019Ser) NC_000017.11:10639343:T:C Identity +LRG_741t1:c.8887T>C LRG_741p1:p.Ser2963Pro NC_000002.12:73490842:T:C ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:Data provider error: ValueError: Transcript LRG_741t1 not found ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_741t1, alt_ac=LRG_741t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_741t1 not found +NM_000069.3:c.2360A>T NP_000060.2:p.Lys787Met NC_000001.11:201070271:T:A p.(Lys787Met) NC_000001.11:201070271:T:A p.(Lys787Met) NC_000001.11:201070271:T:A Identity +NM_001303401.2:c.1694C>G NP_001290330.1:p.Ala565Gly NC_000003.12:101762537:C:G p.(Ala565Gly) NC_000003.12:101762537:C:G p.(Ala565Gly) NC_000003.12:101762537:C:G Identity +NM_004370.6:c.817T>A NP_004361.3:p.Ser273Thr NC_000006.12:75189222:A:T p.(Ser273Thr) NC_000006.12:75189222:A:T p.(Ser273Thr) NC_000006.12:75189222:A:T Identity +NM_001195573.1:c.4243G>A NP_001182502.1:p.Glu1415Lys NC_000014.9:95096676:C:T p.(Glu1415Lys) NC_000014.9:95096676:C:T p.(Glu1415Lys) NC_000014.9:95096676:C:T Identity +NM_001193503.2:c.395C>T NP_001180432.1:p.Ala132Val NC_000017.11:4955153:C:T p.(Ala132Val) NC_000017.11:4955153:C:T p.(Ala132Val) NC_000017.11:4955153:C:T Identity +NM_003489.4:c.2146C>T NP_003480.2:p.Leu716Phe NC_000021.9:14966046:G:A p.(Leu716Phe) NC_000021.9:14966046:G:A p.(Leu716Phe) NC_000021.9:14966046:G:A Identity +NM_001261427.3:c.1954G>A NP_001248356.1:p.Asp652Asn NC_000002.12:11804452:G:A p.(Asp652Asn) NC_000002.12:11804452:G:A p.(Asp652Asn) NC_000002.12:11804452:G:A Identity +NM_001173408.2:c.1654C>T NP_001166879.1:p.Arg552Trp NC_000002.12:219567455:G:A p.(Arg552Trp) NC_000002.12:219567455:G:A p.(Arg552Trp) NC_000002.12:219567455:G:A Identity +NM_001127207.2:c.2261G>A NP_001120679.1:p.Arg754His NC_000002.12:216475284:G:A p.(Arg754His) NC_000002.12:216475284:G:A p.(Arg754His) NC_000002.12:216475284:G:A Identity +NM_001318756.1:c.1430C>A NP_001305685.1:p.Thr477Lys NC_000016.10:84177800:C:A p.(Thr477Lys) NC_000016.10:84177800:C:A p.(Thr477Lys) NC_000016.10:84177800:C:A Identity +NM_001316772.1:c.56A>T NP_001303701.1:p.Gln19Leu NC_000007.14:30595138:A:T p.(Gln19Leu) NC_000007.14:30595138:A:T p.(Gln19Leu) NC_000007.14:30595138:A:T Identity +NM_001320480.2:c.253G>A NP_001307409.1:p.Asp85Asn NC_000021.9:37067282:C:T p.(Asp85Asn) NC_000021.9:37067282:C:T p.(Asp85Asn) NC_000021.9:37067282:C:T Identity +NM_001371986.1:c.5165A>C NP_001358915.1:p.Tyr1722Ser NC_000002.12:209917911:A:C p.(Tyr1722Ser) NC_000002.12:209917911:A:C p.(Tyr1722Ser) NC_000002.12:209917911:A:C Identity +NM_001256007.3:c.1069G>A NP_001242936.1:p.Val357Met NC_000007.14:108514280:C:T p.(Val357Met) NC_000007.14:108514280:C:T p.(Val357Met) NC_000007.14:108514280:C:T Identity +NM_014244.5:c.2506A>C NP_055059.2:p.Ile836Leu NC_000005.10:179128069:T:G p.(Ile836Leu) NC_000005.10:179128069:T:G p.(Ile836Leu) NC_000005.10:179128069:T:G Identity +NM_001318245.2:c.5398C>T NP_001305174.1:p.Arg1800Ter NC_000022.11:25921286:C:T p.(Arg1800Ter) NC_000022.11:25921286:C:T p.(Arg1800Ter) NC_000022.11:25921286:C:T Identity +NM_001018088.3:c.769G>A NP_001018098.1:p.Ala257Thr NC_000015.10:62013094:C:T p.(Ala257Thr) NC_000015.10:62013094:C:T p.(Ala257Thr) NC_000015.10:62013094:C:T Identity +NM_001365536.1:c.1709T>C NP_001352465.1:p.Phe570Ser NC_000002.12:166284717:A:G p.(Phe570Ser) NC_000002.12:166284717:A:G p.(Phe570Ser) NC_000002.12:166284717:A:G Identity +NM_018136.5:c.6347T>A NP_060606.3:p.Met2116Lys NC_000001.11:197102903:A:T p.(Met2116Lys) NC_000001.11:197102903:A:T p.(Met2116Lys) NC_000001.11:197102903:A:T Identity +NM_000090.4:c.1237C>T NP_000081.2:p.Arg413Trp NC_000002.12:188994275:C:T p.(Arg413Trp) NC_000002.12:188994275:C:T p.(Arg413Trp) NC_000002.12:188994275:C:T Identity +NM_001204824.2:c.1586G>A NP_001191753.1:p.Arg529Gln NC_000008.11:132129934:C:T p.(Arg529Gln) NC_000008.11:132129934:C:T p.(Arg529Gln) NC_000008.11:132129934:C:T Identity +NM_001349346.2:c.751C>T NP_001336275.1:p.Arg251Ter NC_000008.11:37777996:C:T p.(Arg251Ter) NC_000008.11:37777996:C:T p.(Arg251Ter) NC_000008.11:37777996:C:T Identity +NM_001278055.2:c.11975dup NP_001264984.1:p.Leu3992fs NC_000013.11:23331459:AAA:AAAA p.(Leu3992PhefsTer6) NC_000013.11:23331459:AAA:AAAA p.(Leu3992PhefsTer6) ERR:SPDI Analogous +NM_001195227.2:c.3124G>C NP_001182156.1:p.Gly1042Arg NC_000019.10:49211187:G:C p.(Gly1042Arg) NC_000019.10:49211187:G:C p.(Gly1042Arg) NC_000019.10:49211187:G:C Identity +NM_000718.4:c.5639G>T NP_000709.1:p.Gly1880Val NC_000009.12:138114479:G:T p.(Gly1880Val) NC_000009.12:138114479:G:T p.(Gly1880Val) NC_000009.12:138114479:G:T Identity +NM_006231.4:c.2807C>G NP_006222.2:p.Pro936Arg NC_000012.12:132661583:G:C p.(Pro936Arg) NC_000012.12:132661583:G:C p.(Pro936Arg) NC_000012.12:132661583:G:C Identity +NM_000709.4:c.978C>G NP_000700.1:p.Ile326Met NC_000019.10:41422752:C:G p.(Ile326Met) NC_000019.10:41422752:C:G p.(Ile326Met) NC_000019.10:41422752:C:G Identity +NM_001042410.2:c.1286A>G NP_001035869.1:p.Glu429Gly NC_000002.12:219234906:A:G p.(Glu429Gly) NC_000002.12:219234906:A:G p.(Glu429Gly) NC_000002.12:219234906:A:G Identity +NM_001184976.2:c.475C>T NP_001171905.1:p.His159Tyr NC_000012.12:54509874:C:T p.(His159Tyr) NC_000012.12:54509874:C:T p.(His159Tyr) NC_000012.12:54509874:C:T Identity +NM_006892.4:c.412G>A NP_008823.1:p.Val138Met NC_000020.11:32786606:G:A p.(Val138Met) NC_000020.11:32786606:G:A p.(Val138Met) NC_000020.11:32786606:G:A Identity +NM_001167.4:c.643C>T NP_001158.2:p.Arg215Cys NC_000023.11:123886304:C:T p.(Arg215Cys) NC_000023.11:123886304:C:T p.(Arg215Cys) NC_000023.11:123886304:C:T Identity +NM_001378454.1:c.137T>C NP_001365383.1:p.Val46Ala NC_000002.12:73386004:T:C p.(Val46Ala) NC_000002.12:73386004:T:C p.(Val46Ala) NC_000002.12:73386004:T:C Identity +NM_001034853.2:c.2566G>A NP_001030025.1:p.Gly856Arg NC_000023.11:38286432:C:T p.(Gly856Arg) NC_000023.11:38286432:C:T p.(Gly856Arg) NC_000023.11:38286432:C:T Identity +NM_005144.5:c.3137C>T NP_005135.2:p.Pro1046Leu NC_000008.11:22119025:G:A p.(Pro1046Leu) NC_000008.11:22119025:G:A p.(Pro1046Leu) NC_000008.11:22119025:G:A Identity +NM_006204.4:c.1979C>T NP_006195.3:p.Thr660Ile NC_000010.11:93655802:C:T p.(Thr660Ile) NC_000010.11:93655802:C:T p.(Thr660Ile) NC_000010.11:93655802:C:T Identity +NM_001099271.2:c.133G>A NP_001092741.1:p.Glu45Lys NC_000005.10:75707826:C:T p.(Glu45Lys) NC_000005.10:75707826:C:T p.(Glu45Lys) NC_000005.10:75707826:C:T Identity +NM_001080414.4:c.589C>T NP_001073883.2:p.Arg197Trp NC_000014.9:91339918:G:A p.(Arg197Trp) NC_000014.9:91339918:G:A p.(Arg197Trp) NC_000014.9:91339918:G:A Identity +NM_001256850.1:c.99367A>G NP_001243779.1:p.Ile33123Val NC_000002.12:178532324:T:C p.(Ile33123Val) NC_000002.12:178532324:T:C p.(Ile33123Val) NC_000002.12:178532324:T:C Identity +NM_020999.4:c.191G>T NP_066279.2:p.Arg64Leu NC_000010.11:69572852:C:A p.(Arg64Leu) NC_000010.11:69572852:C:A p.(Arg64Leu) NC_000010.11:69572852:C:A Identity +NM_001081640.2:c.8320A>G NP_001075109.1:p.Ser2774Gly NC_000008.11:47830681:T:C p.(Ser2774Gly) NC_000008.11:47830681:T:C p.(Ser2774Gly) NC_000008.11:47830681:T:C Identity +NM_003718.5:c.1865C>A NP_003709.3:p.Ala622Asp NC_000007.14:39988251:C:A p.(Ala622Asp) NC_000007.14:39988251:C:A p.(Ala622Asp) NC_000007.14:39988251:C:A Identity +NM_001202554.2:c.742C>T NP_001189483.1:p.Leu248Phe NC_000001.11:26794775:C:T p.(Leu248Phe) NC_000001.11:26794775:C:T p.(Leu248Phe) NC_000001.11:26794775:C:T Identity +NM_001378454.1:c.9140T>G NP_001365383.1:p.Val3047Gly NC_000002.12:73491098:T:G p.(Val3047Gly) NC_000002.12:73491098:T:G p.(Val3047Gly) NC_000002.12:73491098:T:G Identity +NM_001163435.3:c.121C>T NP_001156907.2:p.Arg41Cys NC_000004.12:106308839:G:A p.(Arg41Cys) NC_000004.12:106308839:G:A p.(Arg41Cys) NC_000004.12:106308839:G:A Identity +NM_001352514.2:c.1276G>A NP_001339443.1:p.Glu426Lys NC_000021.9:36936609:C:T p.(Glu426Lys) NC_000021.9:36936609:C:T p.(Glu426Lys) NC_000021.9:36936609:C:T Identity +NM_014714.4:c.4132G>A NP_055529.2:p.Val1378Ile NC_000016.10:1518265:C:T p.(Val1378Ile) NC_000016.10:1518265:C:T p.(Val1378Ile) NC_000016.10:1518265:C:T Identity +NM_001165962.2:c.1573G>A NP_001159434.1:p.Ala525Thr NC_000017.11:12995944:C:T p.(Ala525Thr) NC_000017.11:12995944:C:T p.(Ala525Thr) NC_000017.11:12995944:C:T Identity +NM_000489.6:c.1435C>G NP_000480.3:p.Pro479Ala NC_000023.11:77683820:G:C p.(Pro479Ala) NC_000023.11:77683820:G:C p.(Pro479Ala) NC_000023.11:77683820:G:C Identity +NM_000329.3:c.672_673del NP_000320.1:p.Glu224fs NC_000001.11:68439612:TCTCT:TCT p.(Glu224AspfsTer9) NC_000001.11:68439612:TCTCT:TCT p.(Glu224AspfsTer9) NC_000001.11:68439612:TC: Analogous +NM_001126131.2:c.1118C>G NP_001119603.1:p.Pro373Arg NC_000015.10:89328736:G:C p.(Pro373Arg) NC_000015.10:89328736:G:C p.(Pro373Arg) NC_000015.10:89328736:G:C Identity +NM_000521.4:c.221C>G NP_000512.2:p.Pro74Arg NC_000005.10:74685480:C:G p.(Pro74Arg) NC_000005.10:74685480:C:G p.(Pro74Arg) NC_000005.10:74685480:C:G Identity +NM_001198868.2:c.1040G>A NP_001185797.1:p.Arg347His NC_000011.10:65188620:G:A p.(Arg347His) NC_000011.10:65188620:G:A p.(Arg347His) NC_000011.10:65188620:G:A Identity +NM_033071.5:c.18901G>T NP_149062.2:p.Ala6301Ser NC_000006.12:152255736:C:A p.(Ala6301Ser) NC_000006.12:152255736:C:A p.(Ala6301Ser) NC_000006.12:152255736:C:A Identity +NM_000925.4:c.13T>C NP_000916.2:p.Ser5Pro NC_000003.12:58433796:A:G p.(Ser5Pro) NC_000003.12:58433796:A:G p.(Ser5Pro) NC_000003.12:58433796:A:G Identity +NM_001374294.1:c.872C>T NP_001361223.1:p.Pro291Leu NC_000002.12:219505732:C:T p.(Pro291Leu) NC_000002.12:219505732:C:T p.(Pro291Leu) NC_000002.12:219505732:C:T Identity +NM_001143990.2:c.1538G>A NP_001137462.1:p.Arg513Gln NC_000017.11:7703376:G:A p.(Arg513Gln) NC_000017.11:7703376:G:A p.(Arg513Gln) NC_000017.11:7703376:G:A Identity +NM_001972.4:c.214G>C NP_001963.1:p.Val72Leu NC_000019.10:853021:G:C p.(Val72Leu) NC_000019.10:853021:G:C p.(Val72Leu) NC_000019.10:853021:G:C Identity +NM_001321431.2:c.5477G>A NP_001308360.1:p.Gly1826Asp NC_000019.10:8096505:C:T p.(Gly1826Asp) NC_000019.10:8096505:C:T p.(Gly1826Asp) NC_000019.10:8096505:C:T Identity +NM_015346.4:c.3482C>T NP_056161.2:p.Thr1161Ile NC_000014.9:67785099:G:A p.(Thr1161Ile) NC_000014.9:67785099:G:A p.(Thr1161Ile) NC_000014.9:67785099:G:A Identity +NM_001172810.3:c.1259C>T NP_001166281.1:p.Pro420Leu NC_000017.11:74309299:C:T p.(Pro420Leu) NC_000017.11:74309299:C:T p.(Pro420Leu) NC_000017.11:74309299:C:T Identity +NM_001136024.4:c.4145G>C NP_001129496.1:p.Ser1382Thr NC_000023.11:17732183:G:C p.(Ser1382Thr) NC_000023.11:17732183:G:C p.(Ser1382Thr) NC_000023.11:17732183:G:C Identity +NM_030665.4:c.2026G>C NP_109590.3:p.Gly676Arg NC_000017.11:17794973:G:C p.(Gly676Arg) NC_000017.11:17794973:G:C p.(Gly676Arg) NC_000017.11:17794973:G:C Identity +NM_001165962.2:c.773C>A NP_001159434.1:p.Thr258Asn NC_000017.11:13005078:G:T p.(Thr258Asn) NC_000017.11:13005078:G:T p.(Thr258Asn) NC_000017.11:13005078:G:T Identity +NM_000380.4:c.19G>A NP_000371.1:p.Ala7Thr NC_000009.12:97697273:C:T p.(Ala7Thr) NC_000009.12:97697273:C:T p.(Ala7Thr) NC_000009.12:97697273:C:T Identity +NM_018706.7:c.823G>T NP_061176.4:p.Ala275Ser NC_000010.11:12089090:G:T p.(Ala275Ser) NC_000010.11:12089090:G:T p.(Ala275Ser) NC_000010.11:12089090:G:T Identity +NM_001363893.1:c.40_41insA NP_001350822.1:p.Leu14fs NC_000003.12:139344066::A p.(Leu14TyrfsTer48) NC_000003.12:139344065:T:A p.(Leu14TyrfsTer48) NC_000003.12:139344066:TT:A Analogous +NM_001039210.5:c.89A>C NP_001034299.3:p.Glu30Ala NC_000023.11:111682138:A:C p.(Glu30Ala) NC_000023.11:111682138:A:C p.(Glu30Ala) NC_000023.11:111682138:A:C Identity +NM_001104577.2:c.748G>A NP_001098047.1:p.Ala250Thr NC_000017.11:5033740:C:T p.(Ala250Thr) NC_000017.11:5033740:C:T p.(Ala250Thr) NC_000017.11:5033740:C:T Identity +NM_001273.5:c.397_399del NP_001264.2:p.Lys133del NC_000012.12:6601998:CTTC:C p.(Lys133del) NC_000012.12:6601998:CTTC:C p.(Lys133del) NC_000012.12:6601998:CTT: Identity +NM_001258215.1:c.1689G>C NP_001245144.1:p.Lys563Asn NC_000001.11:67390028:G:C p.(Lys563Asn) NC_000001.11:67390028:G:C p.(Lys563Asn) NC_000001.11:67390028:G:C Identity +NM_001410876.1:c.139C>T NP_001397805.1:p.Leu47Phe NC_000006.12:35452683:C:T p.(Leu47Phe) NC_000006.12:35452683:C:T p.(Leu47Phe) NC_000006.12:35452683:C:T Identity +NM_000253.4:c.1019A>G NP_000244.2:p.Lys340Arg NC_000004.12:99597175:A:G p.(Lys340Arg) NC_000004.12:99597175:A:G p.(Lys340Arg) NC_000004.12:99597175:A:G Identity +NM_001164507.2:c.24589A>G NP_001157979.2:p.Lys8197Glu NC_000002.12:151493857:T:C p.(Lys8197Glu) NC_000002.12:151493857:T:C p.(Lys8197Glu) NC_000002.12:151493857:T:C Identity +NM_001372.4:c.2362G>A NP_001363.2:p.Asp788Asn NC_000017.11:11652768:G:A p.(Asp788Asn) NC_000017.11:11652768:G:A p.(Asp788Asn) NC_000017.11:11652768:G:A Identity +NM_000263.4:c.1822G>C NP_000254.2:p.Glu608Gln NC_000017.11:42543827:G:C p.(Glu608Gln) NC_000017.11:42543827:G:C p.(Glu608Gln) NC_000017.11:42543827:G:C Identity +NM_001037333.3:c.3406G>A NP_001032410.1:p.Val1136Met NC_000005.10:157389386:G:A p.(Val1136Met) NC_000005.10:157389386:G:A p.(Val1136Met) NC_000005.10:157389386:G:A Identity +NM_020433.5:c.1826T>C NP_065166.2:p.Leu609Pro NC_000020.11:44115848:A:G p.(Leu609Pro) NC_000020.11:44115848:A:G p.(Leu609Pro) NC_000020.11:44115848:A:G Identity +NM_001142800.2:c.5672A>T NP_001136272.1:p.Asp1891Val NC_000006.12:64439324:T:A p.(Asp1891Val) NC_000006.12:64439324:T:A p.(Asp1891Val) NC_000006.12:64439324:T:A Identity +NM_001561.6:c.428G>C NP_001552.2:p.Gly143Ala NC_000001.11:7935128:C:G p.(Gly143Ala) NC_000001.11:7935128:C:G p.(Gly143Ala) NC_000001.11:7935128:C:G Identity +NM_001284351.3:c.782G>A NP_001271280.1:p.Gly261Asp NC_000005.10:484669:C:T p.(Gly261Asp) NC_000005.10:484669:C:T p.(Gly261Asp) NC_000005.10:484669:C:T Identity +NM_001354705.2:c.2216AGA[1] NP_001341634.1:p.Lys740del NC_000012.12:57578286:AGAAGA:AGA p.(Lys740del) NC_000012.12:57578286:A:AGA ERR:Parse ERR:Parse Identity +NM_015909.4:c.6929C>T NP_056993.2:p.Pro2310Leu NC_000002.12:15167234:G:A p.(Pro2310Leu) NC_000002.12:15167234:G:A p.(Pro2310Leu) NC_000002.12:15167234:G:A Identity +NM_001318491.2:c.92A>T NP_001305420.1:p.Glu31Val NC_000013.11:20582957:A:T p.(Glu31Val) NC_000013.11:20582957:A:T p.(Glu31Val) NC_000013.11:20582957:A:T Identity +NM_001146.5:c.740T>C NP_001137.2:p.Leu247Pro NC_000008.11:107321963:A:G p.(Leu247Pro) NC_000008.11:107321963:A:G p.(Leu247Pro) NC_000008.11:107321963:A:G Identity +NM_000282.4:c.1705G>A NP_000273.2:p.Val569Ile NC_000013.11:100368532:G:A p.(Val569Ile) NC_000013.11:100368532:G:A p.(Val569Ile) NC_000013.11:100368532:G:A Identity +NM_001318245.2:c.6510G>C NP_001305174.1:p.Gln2170His NC_000022.11:26026480:G:C p.(Gln2170His) NC_000022.11:26026480:G:C p.(Gln2170His) NC_000022.11:26026480:G:C Identity +NM_001304418.3:c.17G>T NP_001291347.1:p.Arg6Ile NC_000003.12:69122369:C:A p.(Arg6Ile) NC_000003.12:69122369:C:A p.(Arg6Ile) NC_000003.12:69122369:C:A Identity +NM_001145036.2:c.1040G>A NP_001138508.1:p.Ser347Asn NC_000001.11:230678925:G:A p.(Ser347Asn) NC_000001.11:230678925:G:A p.(Ser347Asn) NC_000001.11:230678925:G:A Identity +NM_001283009.2:c.674C>T NP_001269938.1:p.Pro225Leu NC_000020.11:63667527:C:T p.(Pro225Leu) NC_000020.11:63667527:C:T p.(Pro225Leu) NC_000020.11:63667527:C:T Identity +NM_000070.3:c.5C>G NP_000061.1:p.Pro2Arg NC_000015.10:42359809:C:G p.(Pro2Arg) NC_000015.10:42359809:C:G p.(Pro2Arg) NC_000015.10:42359809:C:G Identity +NM_001710.6:c.2146G>A NP_001701.2:p.Val716Ile NC_000006.12:31951880:G:A p.(Val716Ile) NC_000006.12:31951880:G:A p.(Val716Ile) NC_000006.12:31951880:G:A Identity +NM_001385907.1:c.2339A>G NP_001372836.1:p.His780Arg NC_000009.12:32459506:T:C p.(His780Arg) NC_000009.12:32459506:T:C p.(His780Arg) NC_000009.12:32459506:T:C Identity +NM_003906.5:c.385C>G NP_003897.2:p.Gln129Glu NC_000021.9:46284901:G:C p.(Gln129Glu) NC_000021.9:46284901:G:C p.(Gln129Glu) NC_000021.9:46284901:G:C Identity +NM_021939.4:c.1276C>G NP_068758.3:p.Gln426Glu NC_000017.11:41820965:C:G p.(Gln426Glu) NC_000017.11:41820965:C:G p.(Gln426Glu) NC_000017.11:41820965:C:G Identity +NM_001348081.2:c.792C>A NP_001335010.1:p.Asn264Lys NC_000008.11:13499279:G:T p.(Asn264Lys) NC_000008.11:13499279:G:T p.(Asn264Lys) NC_000008.11:13499279:G:T Identity +NM_005188.4:c.2273C>T NP_005179.2:p.Ala758Val NC_000011.10:119298378:C:T p.(Ala758Val) NC_000011.10:119298378:C:T p.(Ala758Val) NC_000011.10:119298378:C:T Identity +NM_014249.4:c.371C>G NP_055064.1:p.Pro124Arg NC_000015.10:71811975:C:G p.(Pro124Arg) NC_000015.10:71811975:C:G p.(Pro124Arg) NC_000015.10:71811975:C:G Identity +NM_025193.4:c.844C>T NP_079469.2:p.Arg282Trp NC_000016.10:30987916:C:T p.(Arg282Trp) NC_000016.10:30987916:C:T p.(Arg282Trp) NC_000016.10:30987916:C:T Identity +NM_001173408.2:c.2734C>T NP_001166879.1:p.Arg912Cys NC_000002.12:219562620:G:A p.(Arg912Cys) NC_000002.12:219562620:G:A p.(Arg912Cys) NC_000002.12:219562620:G:A Identity +NM_001411101.1:c.3109G>A NP_001398030.1:p.Gly1037Ser NC_000017.11:82932703:G:A p.(Gly1037Ser) NC_000017.11:82932703:G:A p.(Gly1037Ser) NC_000017.11:82932703:G:A Identity +NM_139318.5:c.2594A>G NP_647479.2:p.Asp865Gly NC_000014.9:62707880:T:C p.(Asp865Gly) NC_000014.9:62707880:T:C p.(Asp865Gly) NC_000014.9:62707880:T:C Identity +NM_001128608.2:c.4292G>A NP_001122080.1:p.Arg1431His NC_000015.10:41824543:G:A p.(Arg1431His) NC_000015.10:41824543:G:A p.(Arg1431His) NC_000015.10:41824543:G:A Identity +NM_001243571.2:c.268C>T NP_001230500.1:p.Arg90Ter NC_000011.10:95858616:G:A p.(Arg90Ter) NC_000011.10:95858616:G:A p.(Arg90Ter) NC_000011.10:95858616:G:A Identity +NM_001004356.3:c.1273G>A NP_001004356.1:p.Asp425Asn NC_000004.12:1025104:G:A p.(Asp425Asn) NC_000004.12:1025104:G:A p.(Asp425Asn) NC_000004.12:1025104:G:A Identity +NM_001278055.2:c.10057C>T NP_001264984.1:p.Leu3353Phe NC_000013.11:23333377:G:A p.(Leu3353Phe) NC_000013.11:23333377:G:A p.(Leu3353Phe) NC_000013.11:23333377:G:A Identity +NM_001278055.2:c.12584C>T NP_001264984.1:p.Pro4195Leu NC_000013.11:23330850:G:A p.(Pro4195Leu) NC_000013.11:23330850:G:A p.(Pro4195Leu) NC_000013.11:23330850:G:A Identity +NM_001018088.3:c.8620A>G NP_001018098.1:p.Ile2874Val NC_000015.10:61911934:T:C p.(Ile2874Val) NC_000015.10:61911934:T:C p.(Ile2874Val) NC_000015.10:61911934:T:C Identity +NM_001127214.4:c.1516G>A NP_001120686.1:p.Gly506Arg NC_000016.10:89145951:G:A p.(Gly506Arg) NC_000016.10:89145951:G:A p.(Gly506Arg) NC_000016.10:89145951:G:A Identity +NM_001113378.2:c.2635C>T NP_001106849.1:p.Arg879Ter NC_000015.10:89295092:C:T p.(Arg879Ter) NC_000015.10:89295092:C:T p.(Arg879Ter) NC_000015.10:89295092:C:T Identity +NM_001410846.1:c.3596G>A NP_001397775.1:p.Arg1199Gln NC_000020.11:49010245:G:A p.(Arg1199Gln) NC_000020.11:49010245:G:A p.(Arg1199Gln) NC_000020.11:49010245:G:A Identity +NM_001174116.3:c.5093A>G NP_001167587.1:p.Asn1698Ser NC_000015.10:51488077:T:C p.(Asn1698Ser) NC_000015.10:51488077:T:C p.(Asn1698Ser) NC_000015.10:51488077:T:C Identity +NM_001280541.2:c.1064A>G NP_001267470.1:p.Tyr355Cys NC_000003.12:129476741:A:G p.(Tyr355Cys) NC_000003.12:129476741:A:G p.(Tyr355Cys) NC_000003.12:129476741:A:G Identity +NM_178857.6:c.256G>A NP_849188.4:p.Gly86Ser NC_000008.11:10622945:C:T p.(Gly86Ser) NC_000008.11:10622945:C:T p.(Gly86Ser) NC_000008.11:10622945:C:T Identity +NM_001033053.3:c.673_676del NP_001028225.1:p.Glu225fs NC_000017.11:5560019:TCTCTCTCTCTCT:TCTCTCTCT p.(Glu225AsnfsTer13) NC_000017.11:5560019:TCTCTCTCTCTCT:TCTCTCTCT p.(Glu225AsnfsTer13) NC_000017.11:5560019:TCTC: Analogous +NM_001165928.4:c.2161G>A NP_001159400.3:p.Val721Met NC_000003.12:49532671:G:A p.(Val721Met) NC_000003.12:49532671:G:A p.(Val721Met) NC_000003.12:49532671:G:A Identity +NM_000124.4:c.4427T>C NP_000115.1:p.Phe1476Ser NC_000010.11:49458869:A:G p.(Phe1476Ser) NC_000010.11:49458869:A:G p.(Phe1476Ser) NC_000010.11:49458869:A:G Identity +NM_005914.4:c.2537C>T NP_005905.2:p.Ala846Val NC_000008.11:47976722:C:T p.(Ala846Val) NC_000008.11:47976722:C:T p.(Ala846Val) NC_000008.11:47976722:C:T Identity +NM_001348729.2:c.4867C>T NP_001335658.1:p.His1623Tyr NC_000002.12:8731171:G:A p.(His1623Tyr) NC_000002.12:8731171:G:A p.(His1623Tyr) NC_000002.12:8731171:G:A Identity +NM_001261406.2:c.35A>T NP_001248335.1:p.His12Leu NC_000009.12:13247782:T:A p.(His12Leu) NC_000009.12:13247782:T:A p.(His12Leu) NC_000009.12:13247782:T:A Identity +NM_001349608.2:c.1489G>A NP_001336537.1:p.Val497Ile NC_000001.11:7664125:G:A p.(Val497Ile) NC_000001.11:7664125:G:A p.(Val497Ile) NC_000001.11:7664125:G:A Identity +NM_001136493.3:c.851A>G NP_001129965.1:p.Tyr284Cys NC_000001.11:39966816:A:G p.(Tyr284Cys) NC_000001.11:39966816:A:G p.(Tyr284Cys) NC_000001.11:39966816:A:G Identity +NM_000340.2:c.1205T>C NP_000331.1:p.Ile402Thr NC_000003.12:170998361:A:G p.(Ile402Thr) NC_000003.12:170998361:A:G p.(Ile402Thr) NC_000003.12:170998361:A:G Identity +NM_000326.5:c.808G>A NP_000317.1:p.Gly270Arg NC_000015.10:89210430:C:T p.(Gly270Arg) NC_000015.10:89210430:C:T p.(Gly270Arg) NC_000015.10:89210430:C:T Identity +NM_000427.3:c.653C>T NP_000418.2:p.Ser218Leu NC_000001.11:153261601:C:T p.(Ser218Leu) NC_000001.11:153261601:C:T p.(Ser218Leu) NC_000001.11:153261601:C:T Identity +NM_001033046.4:c.65G>A NP_001028218.1:p.Arg22Gln NC_000017.11:82449189:C:T p.(Arg22Gln) NC_000017.11:82449189:C:T p.(Arg22Gln) NC_000017.11:82449189:C:T Identity +NM_001113755.3:c.195C>A NP_001107227.1:p.Ser65Arg NC_000022.11:50529514:G:T p.(Ser65Arg) NC_000022.11:50529514:G:T p.(Ser65Arg) NC_000022.11:50529514:G:T Identity +NM_000495.5:c.730A>T NP_000486.1:p.Ile244Phe NC_000023.11:108578332:A:T p.(Ile244Phe) NC_000023.11:108578332:A:T p.(Ile244Phe) NC_000023.11:108578332:A:T Identity +NM_000920.4:c.1358G>A NP_000911.2:p.Arg453Gln NC_000011.10:66863783:C:T p.(Arg453Gln) NC_000011.10:66863783:C:T p.(Arg453Gln) NC_000011.10:66863783:C:T Identity +NM_000094.4:c.5690C>T NP_000085.1:p.Pro1897Leu NC_000003.12:48576685:G:A p.(Pro1897Leu) NC_000003.12:48576685:G:A p.(Pro1897Leu) NC_000003.12:48576685:G:A Identity +NM_014845.6:c.892G>C NP_055660.1:p.Glu298Gln NC_000006.12:109743124:G:C p.(Glu298Gln) NC_000006.12:109743124:G:C p.(Glu298Gln) NC_000006.12:109743124:G:C Identity +NM_001363813.1:c.274G>A NP_001350742.1:p.Ala92Thr NC_000017.11:65558346:C:T p.(Ala92Thr) NC_000017.11:65558346:C:T p.(Ala92Thr) NC_000017.11:65558346:C:T Identity +NM_015180.6:c.4114G>T NP_055995.4:p.Asp1372Tyr NC_000014.9:64003046:G:T p.(Asp1372Tyr) NC_000014.9:64003046:G:T p.(Asp1372Tyr) NC_000014.9:64003046:G:T Identity +NM_001379352.1:c.488G>C NP_001366281.1:p.Gly163Ala NC_000001.11:146019343:C:G p.(Gly163Ala) NC_000001.11:146019343:C:G p.(Gly163Ala) NC_000001.11:146019343:C:G Identity +NM_001317799.2:c.781A>G NP_001304728.1:p.Asn261Asp NC_000004.12:122934374:A:G p.(Asn261Asp) NC_000004.12:122934374:A:G p.(Asn261Asp) NC_000004.12:122934374:A:G Identity +NM_001135242.2:c.601A>G NP_001128714.1:p.Met201Val NC_000008.11:133250536:T:C p.(Met201Val) NC_000008.11:133250536:T:C p.(Met201Val) NC_000008.11:133250536:T:C Identity +NM_000391.4:c.119G>T NP_000382.3:p.Arg40Leu NC_000011.10:6618885:C:A p.(Arg40Leu) NC_000011.10:6618885:C:A p.(Arg40Leu) NC_000011.10:6618885:C:A Identity +NM_000183.3:c.50G>A NP_000174.1:p.Trp17Ter NC_000002.12:26254303:G:A p.(Trp17Ter) NC_000002.12:26254303:G:A p.(Trp17Ter) NC_000002.12:26254303:G:A Identity +NM_001018037.2:c.2747A>C NP_001018047.1:p.Glu916Ala NC_000009.12:77276143:A:C p.(Glu916Ala) NC_000009.12:77276143:A:C p.(Glu916Ala) NC_000009.12:77276143:A:C Identity +NM_015102.5:c.1205C>G NP_055917.1:p.Ser402Cys NC_000001.11:5933243:G:C p.(Ser402Cys) NC_000001.11:5933243:G:C p.(Ser402Cys) NC_000001.11:5933243:G:C Identity +NM_001164674.2:c.1015C>T NP_001158146.1:p.Arg339Cys NC_000003.12:4362178:G:A p.(Arg339Cys) NC_000003.12:4362178:G:A p.(Arg339Cys) NC_000003.12:4362178:G:A Identity +NM_000396.4:c.633G>A NP_000387.1:p.Met211Ile NC_000001.11:150799694:C:T p.(Met211Ile) NC_000001.11:150799694:C:T p.(Met211Ile) NC_000001.11:150799694:C:T Identity +NM_001409301.1:c.487G>A NP_001396230.1:p.Asp163Asn NC_000005.10:177135589:G:A p.(Asp163Asn) NC_000005.10:177135589:G:A p.(Asp163Asn) NC_000005.10:177135589:G:A Identity +NM_001413017.1:c.172G>A NP_001399946.1:p.Gly58Arg NC_000008.11:144517454:C:T p.(Gly58Arg) NC_000008.11:144517454:C:T p.(Gly58Arg) NC_000008.11:144517454:C:T Identity +NM_001288951.2:c.2569G>A NP_001275880.1:p.Val857Ile NC_000002.12:47073842:G:A p.(Val857Ile) NC_000002.12:47073842:G:A p.(Val857Ile) NC_000002.12:47073842:G:A Identity +NM_000379.4:c.575C>T NP_000370.2:p.Ser192Leu NC_000002.12:31387886:G:A p.(Ser192Leu) NC_000002.12:31387886:G:A p.(Ser192Leu) NC_000002.12:31387886:G:A Identity +NM_001032409.3:c.905C>T NP_001027581.1:p.Ala302Val NC_000012.12:112917566:C:T p.(Ala302Val) NC_000012.12:112917566:C:T p.(Ala302Val) NC_000012.12:112917566:C:T Identity +NM_019066.5:c.1360G>A NP_061939.3:p.Ala454Thr NC_000015.10:23646382:C:T p.(Ala454Thr) NC_000015.10:23646382:C:T p.(Ala454Thr) NC_000015.10:23646382:C:T Identity +NM_000081.4:c.3754A>G NP_000072.2:p.Ser1252Gly NC_000001.11:235801055:T:C p.(Ser1252Gly) NC_000001.11:235801055:T:C p.(Ser1252Gly) NC_000001.11:235801055:T:C Identity +NM_001145860.2:c.2933G>A NP_001139332.1:p.Cys978Tyr NC_000008.11:98158128:G:A p.(Cys978Tyr) NC_000008.11:98158128:G:A p.(Cys978Tyr) NC_000008.11:98158128:G:A Identity +NM_001385060.1:c.461T>G NP_001371989.1:p.Phe154Cys NC_000003.12:151453637:A:C p.(Phe154Cys) NC_000003.12:151453637:A:C p.(Phe154Cys) NC_000003.12:151453637:A:C Identity +NM_001284367.2:c.25T>G NP_001271296.1:p.Leu9Val NC_000010.11:100529826:A:C p.(Leu9Val) NC_000010.11:100529826:A:C p.(Leu9Val) NC_000010.11:100529826:A:C Identity +NM_005654.6:c.14T>C NP_005645.1:p.Val5Ala NC_000005.10:93585036:T:C p.(Val5Ala) NC_000005.10:93585036:T:C p.(Val5Ala) NC_000005.10:93585036:T:C Identity +NM_004304.5:c.3089_3090delinsTT NP_004295.2:p.His1030Leu NC_000002.12:29225542:GT:AA p.(His1030Leu) NC_000002.12:29225542:GT:AA p.(His1030Leu) NC_000002.12:29225542:GT:AA Identity +NM_006796.3:c.633C>G NP_006787.2:p.Tyr211Ter NC_000018.10:12360045:G:C p.(Tyr211Ter) NC_000018.10:12360045:G:C p.(Tyr211Ter) NC_000018.10:12360045:G:C Identity +NM_181534.4:c.1317G>C NP_853512.1:p.Arg439Ser NC_000017.11:40748312:C:G p.(Arg439Ser) NC_000017.11:40748312:C:G p.(Arg439Ser) NC_000017.11:40748312:C:G Identity +NM_080679.3:c.3940C>T NP_542410.2:p.Pro1314Ser NC_000006.12:33166796:G:A p.(Pro1314Ser) NC_000006.12:33166796:G:A p.(Pro1314Ser) NC_000006.12:33166796:G:A Identity +NM_001346813.1:c.170C>T NP_001333742.1:p.Ser57Leu NC_000006.12:156778098:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_004523.4:c.3014C>T NP_004514.2:p.Ser1005Leu NC_000010.11:92650491:C:T p.(Ser1005Leu) NC_000010.11:92650491:C:T p.(Ser1005Leu) NC_000010.11:92650491:C:T Identity +NM_001909.5:c.797G>A NP_001900.1:p.Arg266His NC_000011.10:1754935:C:T p.(Arg266His) NC_000011.10:1754935:C:T p.(Arg266His) NC_000011.10:1754935:C:T Identity +NM_001244008.2:c.5053T>C NP_001230937.1:p.Phe1685Leu NC_000002.12:240719166:A:G p.(Phe1685Leu) NC_000002.12:240719166:A:G p.(Phe1685Leu) NC_000002.12:240719166:A:G Identity +NM_001345962.2:c.244T>G NP_001332891.1:p.Phe82Val NC_000004.12:83469056:A:C p.(Phe82Val) NC_000004.12:83469056:A:C p.(Phe82Val) NC_000004.12:83469056:A:C Identity +NM_020435.4:c.407C>G NP_065168.2:p.Pro136Arg NC_000001.11:228158164:C:G p.(Pro136Arg) NC_000001.11:228158164:C:G p.(Pro136Arg) NC_000001.11:228158164:C:G Identity +NM_001270449.2:c.536G>A NP_001257378.1:p.Arg179Gln NC_000012.12:109488659:G:A p.(Arg179Gln) NC_000012.12:109488659:G:A p.(Arg179Gln) NC_000012.12:109488659:G:A Identity +NM_006612.6:c.2599C>T NP_006603.2:p.Arg867Cys NC_000017.11:5022679:C:T p.(Arg867Cys) NC_000017.11:5022679:C:T p.(Arg867Cys) NC_000017.11:5022679:C:T Identity +NM_001308379.2:c.1100C>T NP_001295308.1:p.Ala367Val NC_000003.12:50341815:G:A p.(Ala367Val) NC_000003.12:50341815:G:A p.(Ala367Val) NC_000003.12:50341815:G:A Identity +NM_033071.5:c.20743C>T NP_149062.2:p.Arg6915Cys NC_000006.12:152231473:G:A p.(Arg6915Cys) NC_000006.12:152231473:G:A p.(Arg6915Cys) NC_000006.12:152231473:G:A Identity +NM_001195302.2:c.412G>A NP_001182231.1:p.Val138Met NC_000016.10:58010074:G:A p.(Val138Met) NC_000016.10:58010074:G:A p.(Val138Met) NC_000016.10:58010074:G:A Identity +NM_000372.5:c.461G>A NP_000363.1:p.Gly154Glu NC_000011.10:89178413:G:A p.(Gly154Glu) NC_000011.10:89178413:G:A p.(Gly154Glu) NC_000011.10:89178413:G:A Identity +NM_001039848.4:c.49C>T NP_001034937.1:p.Gln17Ter NC_000019.10:1104782:C:T p.(Gln17Ter) NC_000019.10:1104782:C:T p.? NC_000019.10:1104782:C:T Identity +NM_001356429.2:c.142C>A NP_001343358.1:p.Leu48Ile NC_000008.11:15623082:C:A p.(Leu48Ile) NC_000008.11:15623082:C:A p.(Leu48Ile) NC_000008.11:15623082:C:A Identity +NM_000601.6:c.1469C>T NP_000592.3:p.Thr490Met NC_000007.14:81710218:G:A p.(Thr490Met) NC_000007.14:81710218:G:A p.(Thr490Met) NC_000007.14:81710218:G:A Identity +NM_015909.4:c.5508G>T NP_056993.2:p.Lys1836Asn NC_000002.12:15275699:C:A p.(Lys1836Asn) NC_000002.12:15275699:C:A p.(Lys1836Asn) NC_000002.12:15275699:C:A Identity +NM_006903.4:c.790G>A NP_008834.3:p.Val264Met NC_000004.12:105386628:C:T p.(Val264Met) NC_000004.12:105386628:C:T p.(Val264Met) NC_000004.12:105386628:C:T Identity +NM_006662.3:c.4910C>T NP_006653.2:p.Thr1637Ile NC_000016.10:30724333:C:T p.(Thr1637Ile) NC_000016.10:30724333:C:T p.(Thr1637Ile) NC_000016.10:30724333:C:T Identity +NM_000340.2:c.1490C>T NP_000331.1:p.Ala497Val NC_000003.12:170997987:G:A p.(Ala497Val) NC_000003.12:170997987:G:A p.(Ala497Val) NC_000003.12:170997987:G:A Identity +NM_001382708.1:c.1121G>A NP_001369637.1:p.Arg374Gln NC_000002.12:219421439:G:A p.(Arg374Gln) NC_000002.12:219421439:G:A p.(Arg374Gln) NC_000002.12:219421439:G:A Identity +NM_000445.5:c.1084G>T NP_000436.2:p.Asp362Tyr NC_000008.11:143934672:C:A p.(Asp362Tyr) NC_000008.11:143934672:C:A p.(Asp362Tyr) NC_000008.11:143934672:C:A Identity +NM_000027.4:c.938dup NP_000018.2:p.Tyr313Ter NC_000004.12:177433215:T:TT p.(Tyr313Ter) NC_000004.12:177433215:T:TT p.(Tyr313Ter) ERR:SPDI Identity +NM_000170.3:c.49G>C NP_000161.2:p.Gly17Arg NC_000009.12:6645450:C:G p.(Gly17Arg) NC_000009.12:6645450:C:G p.(Gly17Arg) NC_000009.12:6645450:C:G Identity +NM_001007204.1:c.1341G>C NP_001007205.1:p.Lys447Asn NC_000001.11:156874994:G:C ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_000051.4:c.3445A>G NP_000042.3:p.Asn1149Asp NC_000011.10:108281036:A:G p.(Asn1149Asp) NC_000011.10:108281036:A:G p.(Asn1149Asp) NC_000011.10:108281036:A:G Identity +NM_001105243.2:c.1660C>T NP_001098713.1:p.Leu554Phe NC_000023.11:100406937:G:A p.(Leu554Phe) NC_000023.11:100406937:G:A p.(Leu554Phe) NC_000023.11:100406937:G:A Identity +NM_001378454.1:c.1A>C NP_001365383.1:p.Met1Leu NC_000002.12:73385868:A:C p.(Met1Leu) NC_000002.12:73385868:A:C p.Met1? NC_000002.12:73385868:A:C Identity +NM_001194954.2:c.2167C>T NP_001181883.1:p.Leu723Phe NC_000005.10:139325457:C:T p.(Leu723Phe) NC_000005.10:139325457:C:T p.(Leu723Phe) NC_000005.10:139325457:C:T Identity +NM_001277115.2:c.12710C>T NP_001264044.1:p.Ala4237Val NC_000007.14:21892626:C:T p.(Ala4237Val) NC_000007.14:21892626:C:T p.(Ala4237Val) NC_000007.14:21892626:C:T Identity +NM_002838.5:c.1856T>C NP_002829.3:p.Val619Ala NC_000001.11:198729162:T:C p.(Val619Ala) NC_000001.11:198729162:T:C p.(Val619Ala) NC_000001.11:198729162:T:C Identity +NM_001174150.2:c.778A>G NP_001167621.1:p.Ile260Val NC_000003.12:94039967:A:G p.(Ile260Val) NC_000003.12:94039967:A:G p.(Ile260Val) NC_000003.12:94039967:A:G Identity +NM_145262.4:c.944C>T NP_660305.2:p.Ala315Val NC_000003.12:52292497:C:T p.(Ala315Val) NC_000003.12:52292497:C:T p.(Ala315Val) NC_000003.12:52292497:C:T Identity +NM_000135.4:c.2516C>G NP_000126.2:p.Ala839Gly NC_000016.10:89767225:G:C p.(Ala839Gly) NC_000016.10:89767225:G:C p.(Ala839Gly) NC_000016.10:89767225:G:C Identity +NM_001144769.5:c.7552C>G NP_001138241.1:p.Pro2518Ala NC_000006.12:56568564:G:C p.(Pro2518Ala) NC_000006.12:56568564:G:C p.(Pro2518Ala) NC_000006.12:56568564:G:C Identity +NM_003816.3:c.2107T>C NP_003807.1:p.Phe703Leu NC_000008.11:39090084:T:C p.(Phe703Leu) NC_000008.11:39090084:T:C p.(Phe703Leu) NC_000008.11:39090084:T:C Identity +NM_001378454.1:c.3769C>T NP_001365383.1:p.His1257Tyr NC_000002.12:73450295:C:T p.(His1257Tyr) NC_000002.12:73450295:C:T p.(His1257Tyr) NC_000002.12:73450295:C:T Identity +NM_001289123.2:c.619C>T NP_001276052.1:p.Arg207Cys NC_000019.10:6496032:G:A p.(Arg207Cys) NC_000019.10:6496032:G:A p.(Arg207Cys) NC_000019.10:6496032:G:A Identity +NM_001286577.2:c.6572G>C NP_001273506.1:p.Gly2191Ala NC_000011.10:74033587:C:G p.(Gly2191Ala) NC_000011.10:74033587:C:G p.(Gly2191Ala) NC_000011.10:74033587:C:G Identity +NM_015509.4:c.241G>T NP_056324.2:p.Ala81Ser NC_000012.12:8090238:G:T p.(Ala81Ser) NC_000012.12:8090238:G:T p.(Ala81Ser) NC_000012.12:8090238:G:T Identity +NM_001315529.2:c.5701G>A NP_001302458.1:p.Val1901Met NC_000021.9:46412896:G:A p.(Val1901Met) NC_000021.9:46412896:G:A p.(Val1901Met) NC_000021.9:46412896:G:A Identity +NM_000156.6:c.10C>T NP_000147.1:p.Pro4Ser NC_000019.10:1401466:G:A p.(Pro4Ser) NC_000019.10:1401466:G:A p.(Pro4Ser) NC_000019.10:1401466:G:A Identity +NM_018714.3:c.1006C>T NP_061184.1:p.Arg336Ter NC_000017.11:73199956:C:T p.(Arg336Ter) NC_000017.11:73199956:C:T p.(Arg336Ter) NC_000017.11:73199956:C:T Identity +NM_001166005.2:c.896A>G NP_001159477.1:p.Asp299Gly NC_000001.11:29015757:A:G p.(Asp299Gly) NC_000001.11:29015757:A:G p.(Asp299Gly) NC_000001.11:29015757:A:G Identity +NM_001363602.2:c.37C>T NP_001350531.1:p.Arg13Trp NC_000019.10:1387830:C:T p.(Arg13Trp) NC_000019.10:1387830:C:T p.(Arg13Trp) NC_000019.10:1387830:C:T Identity +NM_000127.3:c.213G>C NP_000118.2:p.Leu71Phe NC_000008.11:118110833:C:G p.(Leu71Phe) NC_000008.11:118110833:C:G p.(Leu71Phe) NC_000008.11:118110833:C:G Identity +NM_000843.4:c.201C>A NP_000834.2:p.His67Gln NC_000005.10:178994743:G:T p.(His67Gln) NC_000005.10:178994743:G:T p.(His67Gln) NC_000005.10:178994743:G:T Identity +NM_001029882.3:c.1072C>T NP_001025053.1:p.Pro358Ser NC_000001.11:27551043:G:A p.(Pro358Ser) NC_000001.11:27551043:G:A p.(Pro358Ser) NC_000001.11:27551043:G:A Identity +NM_001271999.2:c.2696A>C NP_001258928.1:p.Asn899Thr NC_000001.11:62552801:T:G p.(Asn899Thr) NC_000001.11:62552801:T:G p.(Asn899Thr) NC_000001.11:62552801:T:G Identity +NM_001303249.3:c.988T>C NP_001290178.1:p.Ser330Pro NC_000005.10:110761755:T:C p.(Ser330Pro) NC_000005.10:110761755:T:C p.(Ser330Pro) NC_000005.10:110761755:T:C Identity +NM_181426.2:c.1606C>A NP_852091.1:p.Leu536Ile NC_000003.12:180644178:G:T p.(Leu536Ile) NC_000003.12:180644178:G:T p.(Leu536Ile) NC_000003.12:180644178:G:T Identity +NM_001105243.2:c.2905G>T NP_001098713.1:p.Ala969Ser NC_000023.11:100296677:C:A p.(Ala969Ser) NC_000023.11:100296677:C:A p.(Ala969Ser) NC_000023.11:100296677:C:A Identity +NM_001160227.2:c.4915G>A NP_001153699.1:p.Val1639Met NC_000015.10:44585841:C:T p.(Val1639Met) NC_000015.10:44585841:C:T p.(Val1639Met) NC_000015.10:44585841:C:T Identity +NM_152309.3:c.1765C>T NP_689522.2:p.Pro589Ser NC_000010.11:96620527:G:A p.(Pro589Ser) NC_000010.11:96620527:G:A p.(Pro589Ser) NC_000010.11:96620527:G:A Identity +NM_014208.3:c.950T>C NP_055023.2:p.Val317Ala NC_000004.12:87613135:T:C p.(Val317Ala) NC_000004.12:87613135:T:C p.(Val317Ala) NC_000004.12:87613135:T:C Identity +NM_000537.4:c.257A>G NP_000528.1:p.Tyr86Cys NC_000001.11:204161407:T:C p.(Tyr86Cys) NC_000001.11:204161407:T:C p.(Tyr86Cys) NC_000001.11:204161407:T:C Identity +NM_170606.3:c.785T>C NP_733751.2:p.Val262Ala NC_000007.14:152310029:A:G p.(Val262Ala) NC_000007.14:152310029:A:G p.(Val262Ala) NC_000007.14:152310029:A:G Identity +NM_001354705.2:c.1007A>G NP_001341634.1:p.Tyr336Cys NC_000012.12:57570142:A:G p.(Tyr336Cys) NC_000012.12:57570142:A:G p.(Tyr336Cys) NC_000012.12:57570142:A:G Identity +NM_024700.4:c.652G>A NP_078976.2:p.Val218Met NC_000001.11:37540430:C:T p.(Val218Met) NC_000001.11:37540430:C:T p.(Val218Met) NC_000001.11:37540430:C:T Identity +NM_000718.4:c.1523G>A NP_000709.1:p.Arg508Gln NC_000009.12:137971571:G:A p.(Arg508Gln) NC_000009.12:137971571:G:A p.(Arg508Gln) NC_000009.12:137971571:G:A Identity +NM_013416.4:c.815_816inv NP_038202.2:p.Leu272Pro NC_000022.11:36875839:TG:CA p.(Leu272Pro) NC_000022.11:36875839:TG:CA p.(Leu272Pro) ERR:SPDI Identity +NM_001278055.2:c.5735A>T NP_001264984.1:p.Glu1912Val NC_000013.11:23337699:T:A p.(Glu1912Val) NC_000013.11:23337699:T:A p.(Glu1912Val) NC_000013.11:23337699:T:A Identity +NM_000987.5:c.29A>C NP_000978.1:p.Asp10Ala NC_000017.11:8382281:T:G p.(Asp10Ala) NC_000017.11:8382281:T:G p.(Asp10Ala) NC_000017.11:8382281:T:G Identity +NM_015180.6:c.6081A>T NP_055995.4:p.Arg2027Ser NC_000014.9:64025249:A:T p.(Arg2027Ser) NC_000014.9:64025249:A:T p.(Arg2027Ser) NC_000014.9:64025249:A:T Identity +NM_015180.6:c.19834T>C NP_055995.4:p.Ser6612Pro NC_000014.9:64220478:T:C p.(Ser6612Pro) NC_000014.9:64220478:T:C p.(Ser6612Pro) NC_000014.9:64220478:T:C Identity +NM_005045.4:c.9032A>G NP_005036.2:p.Asp3011Gly NC_000007.14:103496686:T:C p.(Asp3011Gly) NC_000007.14:103496686:T:C p.(Asp3011Gly) NC_000007.14:103496686:T:C Identity +NM_000289.6:c.1918A>G NP_000280.1:p.Ile640Val NC_000012.12:48144082:A:G p.(Ile640Val) NC_000012.12:48144082:A:G p.(Ile640Val) NC_000012.12:48144082:A:G Identity +NM_001321102.2:c.41A>T NP_001308031.1:p.Glu14Val NC_000002.12:3387663:A:T p.(Glu14Val) NC_000002.12:3387663:A:T p.(Glu14Val) NC_000002.12:3387663:A:T Identity +NM_178565.5:c.191G>A NP_848660.3:p.Arg64Gln NC_000008.11:107989147:C:T p.(Arg64Gln) NC_000008.11:107989147:C:T p.(Arg64Gln) NC_000008.11:107989147:C:T Identity +NM_001291411.2:c.1232C>T NP_001278340.2:p.Thr411Ile NC_000021.9:33550462:C:T p.(Thr411Ile) NC_000021.9:33550462:C:T p.(Thr411Ile) NC_000021.9:33550462:C:T Identity +NM_006516.4:c.1009C>T NP_006507.2:p.His337Tyr NC_000001.11:42928996:G:A p.(His337Tyr) NC_000001.11:42928996:G:A p.(His337Tyr) NC_000001.11:42928996:G:A Identity +NM_015295.3:c.1535C>T NP_056110.2:p.Ala512Val NC_000018.10:2700805:C:T p.(Ala512Val) NC_000018.10:2700805:C:T p.(Ala512Val) NC_000018.10:2700805:C:T Identity +NM_003850.3:c.147G>C NP_003841.1:p.Gln49His NC_000013.11:47996966:C:G p.(Gln49His) NC_000013.11:47996966:C:G p.(Gln49His) NC_000013.11:47996966:C:G Identity +NM_001080463.2:c.7148C>T NP_001073932.1:p.Thr2383Met NC_000011.10:103188503:C:T p.(Thr2383Met) NC_000011.10:103188503:C:T p.(Thr2383Met) NC_000011.10:103188503:C:T Identity +NM_017802.4:c.1705C>T NP_060272.3:p.Arg569Trp NC_000007.14:763895:C:T p.(Arg569Trp) NC_000007.14:763895:C:T p.(Arg569Trp) NC_000007.14:763895:C:T Identity +NM_001316690.1:c.1570C>T NP_001303619.1:p.His524Tyr NC_000008.11:60743001:C:T p.(His524Tyr) NC_000008.11:60743001:C:T p.(His524Tyr) NC_000008.11:60743001:C:T Identity +NM_152416.4:c.43C>T NP_689629.2:p.Leu15Phe NC_000008.11:95025050:C:T p.(Leu15Phe) NC_000008.11:95025050:C:T p.(Leu15Phe) NC_000008.11:95025050:C:T Identity +NM_014362.4:c.175G>T NP_055177.2:p.Ala59Ser NC_000002.12:190296856:C:A p.(Ala59Ser) NC_000002.12:190296856:C:A p.(Ala59Ser) NC_000002.12:190296856:C:A Identity +NM_001999.4:c.676C>G NP_001990.2:p.Gln226Glu NC_000005.10:128464873:G:C p.(Gln226Glu) NC_000005.10:128464873:G:C p.(Gln226Glu) NC_000005.10:128464873:G:C Identity +NM_001033576.2:c.1865G>A NP_001028748.1:p.Arg622Gln NC_000017.11:35174275:G:A p.(Arg622Gln) NC_000017.11:35174275:G:A p.(Arg622Gln) NC_000017.11:35174275:G:A Identity +NM_000979.4:c.323G>A NP_000970.1:p.Arg108Gln NC_000019.10:48616176:C:T p.(Arg108Gln) NC_000019.10:48616176:C:T p.(Arg108Gln) NC_000019.10:48616176:C:T Identity +NM_001288721.2:c.850C>A NP_001275650.1:p.Pro284Thr NC_000011.10:62616543:G:T p.(Pro284Thr) NC_000011.10:62616543:G:T p.(Pro284Thr) NC_000011.10:62616543:G:T Identity +NM_001374425.1:c.475G>C NP_001361354.1:p.Ala159Pro NC_000001.11:2408576:C:G p.(Ala159Pro) NC_000001.11:2408576:C:G p.(Ala159Pro) NC_000001.11:2408576:C:G Identity +NM_000834.5:c.4114A>G NP_000825.2:p.Met1372Val NC_000012.12:13563123:T:C p.(Met1372Val) NC_000012.12:13563123:T:C p.(Met1372Val) NC_000012.12:13563123:T:C Identity +NM_001324112.2:c.416A>T NP_001311041.1:p.His139Leu NC_000008.11:64616124:T:A p.(His139Leu) NC_000008.11:64616124:T:A p.(His139Leu) NC_000008.11:64616124:T:A Identity +NM_001410858.1:c.4664A>T NP_001397787.1:p.Glu1555Val NC_000018.10:45899548:T:A p.(Glu1555Val) NC_000018.10:45899548:T:A p.(Glu1555Val) NC_000018.10:45899548:T:A Identity +NM_001301012.2:c.662C>A NP_001287941.1:p.Ala221Asp NC_000006.12:133468584:C:A p.(Ala221Asp) NC_000006.12:133468584:C:A p.(Ala221Asp) NC_000006.12:133468584:C:A Identity +NM_001190720.3:c.515G>A NP_001177649.2:p.Arg172Gln NC_000008.11:42314335:G:A p.(Arg172Gln) NC_000008.11:42314335:G:A p.(Arg172Gln) NC_000008.11:42314335:G:A Identity +NM_001164507.2:c.7751A>G NP_001157979.2:p.Gln2584Arg NC_000002.12:151644022:T:C p.(Gln2584Arg) NC_000002.12:151644022:T:C p.(Gln2584Arg) NC_000002.12:151644022:T:C Identity +NM_206933.4:c.12118C>T NP_996816.3:p.Arg4040Cys NC_000001.11:215680324:G:A p.(Arg4040Cys) NC_000001.11:215680324:G:A p.(Arg4040Cys) NC_000001.11:215680324:G:A Identity +NM_001261427.3:c.2609C>T NP_001248356.1:p.Ser870Leu NC_000002.12:11824708:C:T p.(Ser870Leu) NC_000002.12:11824708:C:T p.(Ser870Leu) NC_000002.12:11824708:C:T Identity +NM_001385678.1:c.385C>T NP_001372607.1:p.Arg129Trp NC_000019.10:4817950:G:A p.(Arg129Trp) NC_000019.10:4817950:G:A p.(Arg129Trp) NC_000019.10:4817950:G:A Identity +NM_032888.4:c.4717G>A NP_116277.2:p.Val1573Ile NC_000009.12:114301086:G:A p.(Val1573Ile) NC_000009.12:114301086:G:A p.(Val1573Ile) NC_000009.12:114301086:G:A Identity +NM_001351059.2:c.244G>A NP_001337988.1:p.Val82Met NC_000011.10:68045074:G:A p.(Val82Met) NC_000011.10:68045074:G:A p.(Val82Met) NC_000011.10:68045074:G:A Identity +NM_007312.3:c.1103G>A NP_009296.1:p.Arg368His NC_000003.12:50300687:C:T ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_080679.3:c.976C>G NP_542410.2:p.Arg326Gly NC_000006.12:33180319:G:C p.(Arg326Gly) NC_000006.12:33180319:G:C p.(Arg326Gly) NC_000006.12:33180319:G:C Identity +NM_001278055.2:c.7810del NP_001264984.1:p.Glu2604fs NC_000013.11:23335624:C: p.(Glu2604LysfsTer2) NC_000013.11:23335624:C: p.(Glu2604LysfsTer2) NC_000013.11:23335624:C: Analogous +NM_001378454.1:c.3407C>G NP_001365383.1:p.Thr1136Arg NC_000002.12:73449933:C:G p.(Thr1136Arg) NC_000002.12:73449933:C:G p.(Thr1136Arg) NC_000002.12:73449933:C:G Identity +NM_198578.4:c.2774G>A NP_940980.4:p.Cys925Tyr NC_000012.12:40293628:G:A p.(Cys925Tyr) NC_000012.12:40293628:G:A p.(Cys925Tyr) NC_000012.12:40293628:G:A Identity +NM_001083961.2:c.985G>A NP_001077430.1:p.Ala329Thr NC_000019.10:36071657:G:A p.(Ala329Thr) NC_000019.10:36071657:G:A p.(Ala329Thr) NC_000019.10:36071657:G:A Identity +NM_001272039.2:c.4255C>T NP_001258968.1:p.Leu1419Phe NC_000009.12:120407029:G:A p.(Leu1419Phe) NC_000009.12:120407029:G:A p.(Leu1419Phe) NC_000009.12:120407029:G:A Identity +NM_000094.4:c.2816_2817inv NP_000085.1:p.Pro939Leu NC_000003.12:48587832:TG:CA p.(Pro939Leu) NC_000003.12:48587832:TG:CA p.(Pro939Leu) ERR:SPDI Identity +NM_032888.4:c.2159C>T NP_116277.2:p.Pro720Leu NC_000009.12:114205135:C:T p.(Pro720Leu) NC_000009.12:114205135:C:T p.(Pro720Leu) NC_000009.12:114205135:C:T Identity +NM_001364858.1:c.1730C>T NP_001351787.1:p.Pro577Leu NC_000007.14:4791158:C:T p.(Pro577Leu) NC_000007.14:4791158:C:T p.(Pro577Leu) NC_000007.14:4791158:C:T Identity +NM_001029882.3:c.139C>G NP_001025053.1:p.Pro47Ala NC_000001.11:27551976:G:C p.(Pro47Ala) NC_000001.11:27551976:G:C p.(Pro47Ala) NC_000001.11:27551976:G:C Identity +NM_001195227.2:c.2518G>A NP_001182156.1:p.Val840Met NC_000019.10:49200784:G:A p.(Val840Met) NC_000019.10:49200784:G:A p.(Val840Met) NC_000019.10:49200784:G:A Identity +NM_001099952.4:c.3470A>C NP_001093422.2:p.Glu1157Ala NC_000003.12:4683796:A:C p.(Glu1157Ala) NC_000003.12:4683796:A:C p.(Glu1157Ala) NC_000003.12:4683796:A:C Identity +NM_020461.4:c.3032G>A NP_065194.3:p.Arg1011His NC_000022.11:50221326:C:T p.(Arg1011His) NC_000022.11:50221326:C:T p.(Arg1011His) NC_000022.11:50221326:C:T Identity +NM_001039492.3:c.218A>G NP_001034581.1:p.Asn73Ser NC_000002.12:105373671:T:C p.(Asn73Ser) NC_000002.12:105373671:T:C p.(Asn73Ser) NC_000002.12:105373671:T:C Identity +NM_000180.4:c.92G>A NP_000171.1:p.Arg31Gln NC_000017.11:8003138:G:A p.(Arg31Gln) NC_000017.11:8003138:G:A p.(Arg31Gln) NC_000017.11:8003138:G:A Identity +NM_001244580.2:c.6856A>G NP_001231509.1:p.Ile2286Val NC_000007.14:98964675:A:G p.(Ile2286Val) NC_000007.14:98964675:A:G p.(Ile2286Val) NC_000007.14:98964675:A:G Identity +NM_001350420.2:c.1735T>G NP_001337349.1:p.Ser579Ala NC_000006.12:72290784:T:G p.(Ser579Ala) NC_000006.12:72290784:T:G p.(Ser579Ala) NC_000006.12:72290784:T:G Identity +NM_001164507.2:c.1538A>G NP_001157979.2:p.Gln513Arg NC_000002.12:151696667:T:C p.(Gln513Arg) NC_000002.12:151696667:T:C p.(Gln513Arg) NC_000002.12:151696667:T:C Identity +NM_001206927.2:c.13176C>A NP_001193856.1:p.Asn4392Lys NC_000006.12:38990133:C:A p.(Asn4392Lys) NC_000006.12:38990133:C:A p.(Asn4392Lys) NC_000006.12:38990133:C:A Identity +NM_000414.4:c.1901G>A NP_000405.1:p.Arg634His NC_000005.10:119531311:G:A p.(Arg634His) NC_000005.10:119531311:G:A p.(Arg634His) NC_000005.10:119531311:G:A Identity +NM_000310.4:c.190G>C NP_000301.1:p.Gly64Arg NC_000001.11:40092441:C:G p.(Gly64Arg) NC_000001.11:40092441:C:G p.(Gly64Arg) NC_000001.11:40092441:C:G Identity +NM_001146289.2:c.895T>C NP_001139761.1:p.Phe299Leu NC_000001.11:42758896:A:G p.(Phe299Leu) NC_000001.11:42758896:A:G p.(Phe299Leu) NC_000001.11:42758896:A:G Identity +NM_001008738.3:c.187G>A NP_001008738.3:p.Val63Ile NC_000005.10:131744595:C:T p.(Val63Ile) NC_000005.10:131744595:C:T p.(Val63Ile) NC_000005.10:131744595:C:T Identity +NM_001281303.2:c.533A>G NP_001268232.1:p.Tyr178Cys NC_000009.12:92067992:T:C p.(Tyr178Cys) NC_000009.12:92067992:T:C p.(Tyr178Cys) NC_000009.12:92067992:T:C Identity +NM_000445.5:c.12287G>A NP_000436.2:p.Arg4096His NC_000008.11:143917614:C:T p.(Arg4096His) NC_000008.11:143917614:C:T p.(Arg4096His) NC_000008.11:143917614:C:T Identity +NM_145059.3:c.3007_3008del NP_659496.2:p.Leu1003fs NC_000016.10:70479256:CT: p.(Leu1003AspfsTer59) NC_000016.10:70479256:CT: p.(Leu1003AspfsTer59) NC_000016.10:70479256:CT: Analogous +NM_000088.4:c.2702C>T NP_000079.2:p.Ala901Val NC_000017.11:50189503:G:A p.(Ala901Val) NC_000017.11:50189503:G:A p.(Ala901Val) NC_000017.11:50189503:G:A Identity +NM_017491.5:c.297G>C NP_059830.1:p.Gln99His NC_000004.12:10099071:C:G p.(Gln99His) NC_000004.12:10099071:C:G p.(Gln99His) NC_000004.12:10099071:C:G Identity +NM_005245.4:c.7744G>A NP_005236.2:p.Val2582Met NC_000004.12:186618841:C:T p.(Val2582Met) NC_000004.12:186618841:C:T p.(Val2582Met) NC_000004.12:186618841:C:T Identity +NM_001378120.1:c.2824C>T NP_001365049.1:p.Leu942Phe NC_000002.12:148483414:C:T p.(Leu942Phe) NC_000002.12:148483414:C:T p.(Leu942Phe) NC_000002.12:148483414:C:T Identity +NM_001042529.3:c.403C>T NP_001035994.1:p.Arg135Cys NC_000017.11:42563024:C:T p.(Arg135Cys) NC_000017.11:42563024:C:T p.(Arg135Cys) NC_000017.11:42563024:C:T Identity +NM_001127505.3:c.632G>A NP_001120977.1:p.Gly211Glu NC_000008.11:18061738:C:T p.(Gly211Glu) NC_000008.11:18061738:C:T p.(Gly211Glu) NC_000008.11:18061738:C:T Identity +NM_000548.5:c.1437C>G NP_000539.2:p.Phe479Leu NC_000016.10:2063046:C:G p.(Phe479Leu) NC_000016.10:2063046:C:G p.(Phe479Leu) NC_000016.10:2063046:C:G Identity +NM_001318360.2:c.1303T>C NP_001305289.1:p.Ser435Pro NC_000009.12:108903667:A:G p.(Ser435Pro) NC_000009.12:108903667:A:G p.(Ser435Pro) NC_000009.12:108903667:A:G Identity +NM_001291593.2:c.1228C>T NP_001278522.1:p.Arg410Cys NC_000001.11:5877142:G:A p.(Arg410Cys) NC_000001.11:5877142:G:A p.(Arg410Cys) NC_000001.11:5877142:G:A Identity +NM_001410908.1:c.3827G>A NP_001397837.1:p.Arg1276Gln NC_000007.14:105110350:G:A p.(Arg1276Gln) NC_000007.14:105110350:G:A p.(Arg1276Gln) NC_000007.14:105110350:G:A Identity +NM_000076.2:c.605C>T NP_000067.1:p.Pro202Leu NC_000011.10:2884884:G:A p.(Pro202Leu) NC_000011.10:2884884:G:A p.(Pro202Leu) NC_000011.10:2884884:G:A Identity +NM_000135.4:c.2162T>G NP_000126.2:p.Leu721Arg NC_000016.10:89770623:A:C p.(Leu721Arg) NC_000016.10:89770623:A:C p.(Leu721Arg) NC_000016.10:89770623:A:C Identity +NM_001363813.1:c.1832C>G NP_001350742.1:p.Ala611Gly NC_000017.11:65536433:G:C p.(Ala611Gly) NC_000017.11:65536433:G:C p.(Ala611Gly) NC_000017.11:65536433:G:C Identity +NM_007317.3:c.17C>T NP_015556.1:p.Ser6Leu NC_000016.10:29790775:C:T p.(Ser6Leu) NC_000016.10:29790775:C:T p.(Ser6Leu) NC_000016.10:29790775:C:T Identity +NM_020533.3:c.832C>T NP_065394.1:p.Gln278Ter NC_000019.10:7528211:C:T p.(Gln278Ter) NC_000019.10:7528211:C:T p.(Gln278Ter) NC_000019.10:7528211:C:T Identity +NM_001362949.2:c.1940C>T NP_001349878.1:p.Thr647Met NC_000022.11:33277192:G:A p.(Thr647Met) NC_000022.11:33277192:G:A p.(Thr647Met) NC_000022.11:33277192:G:A Identity +NM_017890.5:c.4243G>C NP_060360.3:p.Val1415Leu NC_000008.11:99507854:G:C p.(Val1415Leu) NC_000008.11:99507854:G:C p.(Val1415Leu) NC_000008.11:99507854:G:C Identity +NM_001184.4:c.4136A>G NP_001175.2:p.Lys1379Arg NC_000003.12:142524008:T:C p.(Lys1379Arg) NC_000003.12:142524008:T:C p.(Lys1379Arg) NC_000003.12:142524008:T:C Identity +NM_000920.4:c.1313C>T NP_000911.2:p.Thr438Met NC_000011.10:66863828:G:A p.(Thr438Met) NC_000011.10:66863828:G:A p.(Thr438Met) NC_000011.10:66863828:G:A Identity +NM_001164507.2:c.9077A>G NP_001157979.2:p.Lys3026Arg NC_000002.12:151636251:T:C p.(Lys3026Arg) NC_000002.12:151636251:T:C p.(Lys3026Arg) NC_000002.12:151636251:T:C Identity +NM_001354663.2:c.1759A>G NP_001341592.1:p.Lys587Glu NC_000003.12:193657193:A:G p.(Lys587Glu) NC_000003.12:193657193:A:G p.(Lys587Glu) NC_000003.12:193657193:A:G Identity +NM_000282.4:c.685A>G NP_000273.2:p.Met229Val NC_000013.11:100257641:A:G p.(Met229Val) NC_000013.11:100257641:A:G p.(Met229Val) NC_000013.11:100257641:A:G Identity +NM_000312.4:c.164T>C NP_000303.1:p.Leu55Pro NC_000002.12:127421375:T:C p.(Leu55Pro) NC_000002.12:127421375:T:C p.(Leu55Pro) NC_000002.12:127421375:T:C Identity +NM_001324281.3:c.1145C>A NP_001311210.1:p.Ala382Asp NC_000007.14:2937232:G:T p.(Ala382Asp) NC_000007.14:2937232:G:T p.(Ala382Asp) NC_000007.14:2937232:G:T Identity +NM_016343.4:c.5045C>T NP_057427.3:p.Thr1682Ile NC_000001.11:214644614:C:T p.(Thr1682Ile) NC_000001.11:214644614:C:T p.(Thr1682Ile) NC_000001.11:214644614:C:T Identity +NM_006739.4:c.1498G>T NP_006730.2:p.Gly500Trp NC_000022.11:35416721:G:T p.(Gly500Trp) NC_000022.11:35416721:G:T p.(Gly500Trp) NC_000022.11:35416721:G:T Identity +NM_001346083.2:c.809G>A NP_001333012.1:p.Arg270Gln NC_000001.11:205061255:G:A p.(Arg270Gln) NC_000001.11:205061255:G:A p.(Arg270Gln) NC_000001.11:205061255:G:A Identity +NM_032383.5:c.308G>A NP_115759.2:p.Arg103His NC_000003.12:149140093:G:A p.(Arg103His) NC_000003.12:149140093:G:A p.(Arg103His) NC_000003.12:149140093:G:A Identity +NM_001347465.2:c.91G>A NP_001334394.1:p.Gly31Arg NC_000001.11:22637706:G:A p.(Gly31Arg) NC_000001.11:22637706:G:A p.(Gly31Arg) NC_000001.11:22637706:G:A Identity +NM_006516.4:c.950A>C NP_006507.2:p.Asn317Thr NC_000001.11:42929231:T:G p.(Asn317Thr) NC_000001.11:42929231:T:G p.(Asn317Thr) NC_000001.11:42929231:T:G Identity +NM_001277269.2:c.3913G>C NP_001264198.1:p.Asp1305His NC_000011.10:17602376:G:C p.(Asp1305His) NC_000011.10:17602376:G:C p.(Asp1305His) NC_000011.10:17602376:G:C Identity +NM_014714.4:c.2221G>A NP_055529.2:p.Asp741Asn NC_000016.10:1558112:C:T p.(Asp741Asn) NC_000016.10:1558112:C:T p.(Asp741Asn) NC_000016.10:1558112:C:T Identity +NM_001269039.3:c.126A>T NP_001255968.1:p.Glu42Asp NC_000010.11:110964483:A:T p.(Glu42Asp) NC_000010.11:110964483:A:T p.(Glu42Asp) NC_000010.11:110964483:A:T Identity +NM_001331026.2:c.2840C>T NP_001317955.1:p.Ala947Val NC_000005.10:43704375:C:T p.(Ala947Val) NC_000005.10:43704375:C:T p.(Ala947Val) NC_000005.10:43704375:C:T Identity +NM_001843.4:c.2167C>G NP_001834.2:p.Leu723Val NC_000012.12:41014280:C:G p.(Leu723Val) NC_000012.12:41014280:C:G p.(Leu723Val) NC_000012.12:41014280:C:G Identity +NM_001039375.3:c.722del NP_001034464.1:p.Asn241fs NC_000020.11:13816488:AA:A p.(Asn241IlefsTer38) NC_000020.11:13816488:AA:A p.(Asn241IlefsTer38) NC_000020.11:13816489:A: Analogous +NM_005560.6:c.7433C>T NP_005551.3:p.Ala2478Val NC_000020.11:62317422:G:A p.(Ala2478Val) NC_000020.11:62317422:G:A p.(Ala2478Val) NC_000020.11:62317422:G:A Identity +NM_001164716.1:c.446A>G NP_001158188.1:p.Asn149Ser NC_000011.10:64755508:T:C p.(Asn149Ser) NC_000011.10:64755508:T:C p.(Asn149Ser) NC_000011.10:64755508:T:C Identity +NM_016580.4:c.3052C>A NP_057664.1:p.Pro1018Thr NC_000005.10:141949509:G:T p.(Pro1018Thr) NC_000005.10:141949509:G:T p.(Pro1018Thr) NC_000005.10:141949509:G:T Identity +NM_001378454.1:c.11057A>T NP_001365383.1:p.His3686Leu NC_000002.12:73572933:A:T p.(His3686Leu) NC_000002.12:73572933:A:T p.(His3686Leu) NC_000002.12:73572933:A:T Identity +NM_001048171.2:c.482G>A NP_001041636.2:p.Gly161Glu NC_000001.11:45332772:C:T p.(Gly161Glu) NC_000001.11:45332772:C:T p.(Gly161Glu) NC_000001.11:45332772:C:T Identity +NM_001206696.2:c.905T>C NP_001193625.1:p.Val302Ala NC_000001.11:209788633:A:G p.(Val302Ala) NC_000001.11:209788633:A:G p.(Val302Ala) NC_000001.11:209788633:A:G Identity +NM_001105206.3:c.4769G>A NP_001098676.2:p.Gly1590Asp NC_000006.12:112119207:C:T p.(Gly1590Asp) NC_000006.12:112119207:C:T p.(Gly1590Asp) NC_000006.12:112119207:C:T Identity +NM_000203.5:c.532G>A NP_000194.2:p.Glu178Lys NC_000004.12:1001505:G:A p.(Glu178Lys) NC_000004.12:1001505:G:A p.(Glu178Lys) NC_000004.12:1001505:G:A Identity +NM_000204.5:c.612G>A NP_000195.3:p.Met204Ile NC_000004.12:109761562:C:T p.(Met204Ile) NC_000004.12:109761562:C:T p.(Met204Ile) NC_000004.12:109761562:C:T Identity +NM_000204.5:c.485G>A NP_000195.3:p.Gly162Asp NC_000004.12:109761689:C:T p.(Gly162Asp) NC_000004.12:109761689:C:T p.(Gly162Asp) NC_000004.12:109761689:C:T Identity +NM_001167595.2:c.1114A>G NP_001161067.1:p.Ile372Val NC_000005.10:33989127:T:C p.(Ile372Val) NC_000005.10:33989127:T:C p.(Ile372Val) NC_000005.10:33989127:T:C Identity +NM_001083625.3:c.1967A>G NP_001077094.1:p.Lys656Arg NC_000018.10:9255302:A:G p.(Lys656Arg) NC_000018.10:9255302:A:G p.(Lys656Arg) NC_000018.10:9255302:A:G Identity +NM_007123.6:c.4144T>G NP_009054.6:p.Trp1382Gly NC_000001.11:216196659:A:C p.(Trp1382Gly) NC_000001.11:216196659:A:C p.(Trp1382Gly) NC_000001.11:216196659:A:C Identity +NM_007123.6:c.1655G>C NP_009054.6:p.Cys552Ser NC_000001.11:216292359:C:G p.(Cys552Ser) NC_000001.11:216292359:C:G p.(Cys552Ser) NC_000001.11:216292359:C:G Identity +NM_001100.4:c.611C>T NP_001091.1:p.Thr204Ile NC_000001.11:229432274:G:A p.(Thr204Ile) NC_000001.11:229432274:G:A p.(Thr204Ile) NC_000001.11:229432274:G:A Identity +NM_001079878.2:c.147dup NP_001073347.1:p.Ile50fs NC_000002.12:98377728:GGGG:GGGGG p.(Ile50AspfsTer10) NC_000002.12:98377728:GGGG:GGGGG p.(Ile50AspfsTer10) ERR:SPDI Analogous +NM_001165963.4:c.7C>T NP_001159435.1:p.Gln3Ter NC_000002.12:166073614:G:A p.(Gln3Ter) NC_000002.12:166073614:G:A p.(Gln3Ter) NC_000002.12:166073614:G:A Identity +NM_001081640.2:c.9366C>G NP_001075109.1:p.His3122Gln NC_000008.11:47819480:G:C p.(His3122Gln) NC_000008.11:47819480:G:C p.(His3122Gln) NC_000008.11:47819480:G:C Identity +NM_001318140.2:c.1211A>G NP_001305069.1:p.His404Arg NC_000010.11:43617253:A:G p.(His404Arg) NC_000010.11:43617253:A:G p.(His404Arg) NC_000010.11:43617253:A:G Identity +NM_003813.4:c.949C>T NP_003804.2:p.Arg317Cys NC_000014.9:70458447:C:T p.(Arg317Cys) NC_000014.9:70458447:C:T p.(Arg317Cys) NC_000014.9:70458447:C:T Identity +NM_000539.3:c.374T>G NP_000530.1:p.Leu125Arg NC_000003.12:129530887:T:G p.(Leu125Arg) NC_000003.12:129530887:T:G p.(Leu125Arg) NC_000003.12:129530887:T:G Identity +NM_000135.4:c.3754G>T NP_000126.2:p.Glu1252Ter NC_000016.10:89742810:C:A p.(Glu1252Ter) NC_000016.10:89742810:C:A p.(Glu1252Ter) NC_000016.10:89742810:C:A Identity +NM_001113755.3:c.956A>G NP_001107227.1:p.His319Arg NC_000022.11:50526448:T:C p.(His319Arg) NC_000022.11:50526448:T:C p.(His319Arg) NC_000022.11:50526448:T:C Identity +NM_001079.4:c.380T>C NP_001070.2:p.Val127Ala NC_000002.12:97724415:T:C p.(Val127Ala) NC_000002.12:97724415:T:C p.(Val127Ala) NC_000002.12:97724415:T:C Identity +NM_001286423.2:c.86C>T NP_001273352.1:p.Ser29Leu NC_000002.12:219243300:G:A p.(Ser29Leu) NC_000002.12:219243300:G:A p.(Ser29Leu) NC_000002.12:219243300:G:A Identity +NM_001281737.2:c.268C>T NP_001268666.1:p.Pro90Ser NC_000004.12:158684594:C:T p.(Pro90Ser) NC_000004.12:158684594:C:T p.(Pro90Ser) NC_000004.12:158684594:C:T Identity +NM_000038.6:c.824del NP_000029.2:p.Gly275fs NC_000005.10:112801371:GG:G p.(Gly275ValfsTer18) NC_000005.10:112801371:GG:G p.(Gly275ValfsTer18) NC_000005.10:112801372:G: Analogous +NM_003126.4:c.4106dup NP_003117.2:p.Leu1370fs NC_000001.11:158645275:TTTTTTT:TTTTTTTT p.(Leu1370AlafsTer10) NC_000001.11:158645275:TTTTTTT:TTTTTTTT p.(Leu1370AlafsTer10) ERR:SPDI Analogous +NM_005188.4:c.2065G>T NP_005179.2:p.Gly689Trp NC_000011.10:119296945:G:T p.(Gly689Trp) NC_000011.10:119296945:G:T p.(Gly689Trp) NC_000011.10:119296945:G:T Identity +NM_001285829.2:c.625G>A NP_001272758.1:p.Val209Met NC_000019.10:33301432:C:T p.(Val209Met) NC_000019.10:33301432:C:T p.(Val209Met) NC_000019.10:33301432:C:T Identity +NM_017890.5:c.7927C>T NP_060360.3:p.Arg2643Trp NC_000008.11:99784386:C:T p.(Arg2643Trp) NC_000008.11:99784386:C:T p.(Arg2643Trp) NC_000008.11:99784386:C:T Identity +NM_001199017.3:c.215A>G NP_001185946.1:p.His72Arg NC_000015.10:70900927:A:G p.(His72Arg) NC_000015.10:70900927:A:G p.(His72Arg) NC_000015.10:70900927:A:G Identity +NM_025114.4:c.5056G>A NP_079390.3:p.Glu1686Lys NC_000012.12:88080351:C:T p.(Glu1686Lys) NC_000012.12:88080351:C:T p.(Glu1686Lys) NC_000012.12:88080351:C:T Identity +NM_000287.4:c.1015G>A NP_000278.3:p.Gly339Ser NC_000006.12:42974905:C:T p.(Gly339Ser) NC_000006.12:42974905:C:T p.(Gly339Ser) NC_000006.12:42974905:C:T Identity +NM_000384.3:c.6567T>A NP_000375.3:p.Tyr2189Ter NC_000002.12:21010300:A:T p.(Tyr2189Ter) NC_000002.12:21010300:A:T p.(Tyr2189Ter) NC_000002.12:21010300:A:T Identity +NM_001105206.3:c.4222C>T NP_001098676.2:p.Pro1408Ser NC_000006.12:112128986:G:A p.(Pro1408Ser) NC_000006.12:112128986:G:A p.(Pro1408Ser) NC_000006.12:112128986:G:A Identity +NM_000036.3:c.716C>T NP_000027.3:p.Thr239Ile NC_000001.11:114680309:G:A p.(Thr239Ile) NC_000001.11:114680309:G:A p.(Thr239Ile) NC_000001.11:114680309:G:A Identity +NM_014698.3:c.1249C>T NP_055513.2:p.Arg417Cys NC_000001.11:225859323:G:A p.(Arg417Cys) NC_000001.11:225859323:G:A p.(Arg417Cys) NC_000001.11:225859323:G:A Identity +NM_001282587.2:c.1138G>A NP_001269516.1:p.Ala380Thr NC_000001.11:9263597:G:A p.(Ala380Thr) NC_000001.11:9263597:G:A p.(Ala380Thr) NC_000001.11:9263597:G:A Identity +NM_001303052.2:c.1175G>A NP_001289981.1:p.Arg392Gln NC_000002.12:1922593:C:T p.(Arg392Gln) NC_000002.12:1922593:C:T p.(Arg392Gln) NC_000002.12:1922593:C:T Identity +NM_000298.6:c.1623G>C NP_000289.1:p.Lys541Asn NC_000001.11:155290673:C:G p.(Lys541Asn) NC_000001.11:155290673:C:G p.(Lys541Asn) NC_000001.11:155290673:C:G Identity +NM_001080495.3:c.4720A>C NP_001073964.2:p.Lys1574Gln NC_000007.14:5359510:T:G p.(Lys1574Gln) NC_000007.14:5359510:T:G p.(Lys1574Gln) NC_000007.14:5359510:T:G Identity +NM_152625.3:c.423C>A NP_689838.1:p.Ser141Arg NC_000005.10:72461073:G:T p.(Ser141Arg) NC_000005.10:72461073:G:T p.(Ser141Arg) NC_000005.10:72461073:G:T Identity +NM_001003702.3:c.784A>G NP_001003702.2:p.Ile262Val NC_000007.14:144187599:T:C p.(Ile262Val) NC_000007.14:144187599:T:C p.(Ile262Val) NC_000007.14:144187599:T:C Identity +NM_000028.3:c.3565G>T NP_000019.2:p.Ala1189Ser NC_000001.11:99900837:G:T p.(Ala1189Ser) NC_000001.11:99900837:G:T p.(Ala1189Ser) NC_000001.11:99900837:G:T Identity +NM_012179.4:c.251C>T NP_036311.3:p.Ala84Val NC_000022.11:32479108:C:T p.(Ala84Val) NC_000022.11:32479108:C:T p.(Ala84Val) NC_000022.11:32479108:C:T Identity +NM_000478.6:c.512A>G NP_000469.3:p.His171Arg NC_000001.11:21564079:A:G p.(His171Arg) NC_000001.11:21564079:A:G p.(His171Arg) NC_000001.11:21564079:A:G Identity +NM_001110514.2:c.497C>G NP_001103984.2:p.Ser166Cys NC_000020.11:2705635:C:G p.(Ser166Cys) NC_000020.11:2705635:C:G p.(Ser166Cys) NC_000020.11:2705635:C:G Identity +NM_001002837.3:c.859G>A NP_001002837.1:p.Ala287Thr NC_000022.11:31128276:G:A p.(Ala287Thr) NC_000022.11:31128276:G:A p.(Ala287Thr) NC_000022.11:31128276:G:A Identity +NM_001304840.3:c.1073G>T NP_001291769.1:p.Ser358Ile NC_000002.12:196318748:C:A p.(Ser358Ile) NC_000002.12:196318748:C:A p.(Ser358Ile) NC_000002.12:196318748:C:A Identity +NM_024753.5:c.2263G>T NP_079029.3:p.Asp755Tyr NC_000002.12:165912572:C:A p.(Asp755Tyr) NC_000002.12:165912572:C:A p.(Asp755Tyr) NC_000002.12:165912572:C:A Identity +NM_001178002.3:c.377C>T NP_001171473.1:p.Thr126Met NC_000019.10:1807246:G:A p.(Thr126Met) NC_000019.10:1807246:G:A p.(Thr126Met) NC_000019.10:1807246:G:A Identity +NM_001367479.1:c.12440G>A NP_001354408.1:p.Arg4147Gln NC_000001.11:225374808:G:A p.(Arg4147Gln) NC_000001.11:225374808:G:A p.(Arg4147Gln) NC_000001.11:225374808:G:A Identity +NM_024512.5:c.919A>C NP_078788.2:p.Thr307Pro NC_000003.12:46527435:T:G p.(Thr307Pro) NC_000003.12:46527435:T:G p.(Thr307Pro) NC_000003.12:46527435:T:G Identity +NM_015540.4:c.814A>G NP_056355.2:p.Thr272Ala NC_000015.10:41531151:T:C p.(Thr272Ala) NC_000015.10:41531151:T:C p.(Thr272Ala) NC_000015.10:41531151:T:C Identity +NM_000396.4:c.580G>A NP_000387.1:p.Gly194Ser NC_000001.11:150804058:C:T p.(Gly194Ser) NC_000001.11:150804058:C:T p.(Gly194Ser) NC_000001.11:150804058:C:T Identity +NM_206933.4:c.12806C>A NP_996816.3:p.Pro4269His NC_000001.11:215675104:G:T p.(Pro4269His) NC_000001.11:215675104:G:T p.(Pro4269His) NC_000001.11:215675104:G:T Identity +NM_001008387.3:c.325C>T NP_001008388.1:p.Pro109Ser NC_000002.12:79027162:C:T p.(Pro109Ser) NC_000002.12:79027162:C:T p.(Pro109Ser) NC_000002.12:79027162:C:T Identity +NM_015030.2:c.8301G>T NP_055845.1:p.Met2767Ile NC_000004.12:48510151:C:A p.(Met2767Ile) NC_000004.12:48510151:C:A p.(Met2767Ile) NC_000004.12:48510151:C:A Identity +NM_001135993.2:c.1346C>T NP_001129465.1:p.Ala449Val NC_000018.10:24125475:C:T p.(Ala449Val) NC_000018.10:24125475:C:T p.(Ala449Val) NC_000018.10:24125475:C:T Identity +NM_004996.4:c.2929C>T NP_004987.2:p.Leu977Phe NC_000016.10:16111431:C:T p.(Leu977Phe) NC_000016.10:16111431:C:T p.(Leu977Phe) NC_000016.10:16111431:C:T Identity +NM_001164741.2:c.2339C>T NP_001158213.1:p.Ala780Val NC_000023.11:153910022:G:A p.(Ala780Val) NC_000023.11:153910022:G:A p.(Ala780Val) NC_000023.11:153910022:G:A Identity +NM_212556.4:c.577C>G NP_997721.2:p.Arg193Gly NC_000002.12:236237707:G:C p.(Arg193Gly) NC_000002.12:236237707:G:C p.(Arg193Gly) NC_000002.12:236237707:G:C Identity +NM_001145079.2:c.1661A>G NP_001138551.1:p.Tyr554Cys NC_000013.11:39723408:A:G p.(Tyr554Cys) NC_000013.11:39723408:A:G p.(Tyr554Cys) NC_000013.11:39723408:A:G Identity +NM_007153.3:c.3547A>G NP_009084.2:p.Ile1183Val NC_000019.10:21971486:T:C p.(Ile1183Val) NC_000019.10:21971486:T:C p.(Ile1183Val) NC_000019.10:21971486:T:C Identity +NM_001291285.3:c.9362C>T NP_001278214.1:p.Ala3121Val NC_000004.12:125450371:C:T p.(Ala3121Val) NC_000004.12:125450371:C:T p.(Ala3121Val) NC_000004.12:125450371:C:T Identity +NM_001100590.2:c.463G>A NP_001094060.1:p.Gly155Arg NC_000004.12:6858450:G:A p.(Gly155Arg) NC_000004.12:6858450:G:A p.(Gly155Arg) NC_000004.12:6858450:G:A Identity +NM_001201457.2:c.2326T>C NP_001188386.1:p.Ser776Pro NC_000017.11:58599036:A:G p.(Ser776Pro) NC_000017.11:58599036:A:G p.(Ser776Pro) NC_000017.11:58599036:A:G Identity +NM_005632.3:c.1036T>C NP_005623.1:p.Cys346Arg NC_000016.10:547873:T:C p.(Cys346Arg) NC_000016.10:547873:T:C p.(Cys346Arg) NC_000016.10:547873:T:C Identity +NM_004369.4:c.3347T>C NP_004360.2:p.Leu1116Pro NC_000002.12:237374743:A:G p.(Leu1116Pro) NC_000002.12:237374743:A:G p.(Leu1116Pro) NC_000002.12:237374743:A:G Identity +NM_000249.4:c.1938T>A NP_000240.1:p.Tyr646Ter NC_000003.12:37048557:T:A p.(Tyr646Ter) NC_000003.12:37048557:T:A p.(Tyr646Ter) NC_000003.12:37048557:T:A Identity +NM_017434.5:c.1140T>A NP_059130.2:p.Asp380Glu NC_000015.10:45139091:T:A p.(Asp380Glu) NC_000015.10:45139091:T:A p.(Asp380Glu) NC_000015.10:45139091:T:A Identity +NM_001198915.2:c.2129G>A NP_001185844.1:p.Arg710Gln NC_000012.12:27689087:G:A p.(Arg710Gln) NC_000012.12:27689087:G:A p.(Arg710Gln) NC_000012.12:27689087:G:A Identity +NM_005021.5:c.2293A>G NP_005012.2:p.Ile765Val NC_000006.12:131738155:A:G p.(Ile765Val) NC_000006.12:131738155:A:G p.(Ile765Val) NC_000006.12:131738155:A:G Identity +NM_001271933.2:c.3580G>C NP_001258862.1:p.Glu1194Gln NC_000011.10:117407993:G:C p.(Glu1194Gln) NC_000011.10:117407993:G:C p.(Glu1194Gln) NC_000011.10:117407993:G:C Identity +NM_001193476.2:c.212G>A NP_001180405.1:p.Arg71Gln NC_000006.12:36012348:C:T p.(Arg71Gln) NC_000006.12:36012348:C:T p.(Arg71Gln) NC_000006.12:36012348:C:T Identity +NM_000094.4:c.7129G>A NP_000085.1:p.Gly2377Ser NC_000003.12:48571135:C:T p.(Gly2377Ser) NC_000003.12:48571135:C:T p.(Gly2377Ser) NC_000003.12:48571135:C:T Identity +NM_002470.4:c.1077C>G NP_002461.2:p.His359Gln NC_000017.11:10645770:G:C p.(His359Gln) NC_000017.11:10645770:G:C p.(His359Gln) NC_000017.11:10645770:G:C Identity +NM_198693.4:c.664T>A NP_941966.1:p.Ser222Thr NC_000021.9:44550794:A:T p.(Ser222Thr) NC_000021.9:44550794:A:T p.(Ser222Thr) NC_000021.9:44550794:A:T Identity +NM_001172638.2:c.404A>G NP_001166109.1:p.Asn135Ser NC_000005.10:180851090:T:C p.(Asn135Ser) NC_000005.10:180851090:T:C p.(Asn135Ser) NC_000005.10:180851090:T:C Identity +NM_001079858.3:c.2857G>A NP_001073327.1:p.Ala953Thr NC_000023.11:18994907:C:T p.(Ala953Thr) NC_000023.11:18994907:C:T p.(Ala953Thr) NC_000023.11:18994907:C:T Identity +NM_001378205.1:c.3727C>T NP_001365134.1:p.Arg1243Trp NC_000018.10:8813143:C:T p.(Arg1243Trp) NC_000018.10:8813143:C:T p.(Arg1243Trp) NC_000018.10:8813143:C:T Identity +NM_001014447.3:c.1804G>A NP_001014447.2:p.Asp602Asn NC_000004.12:8619461:G:A p.(Asp602Asn) NC_000004.12:8619461:G:A p.(Asp602Asn) NC_000004.12:8619461:G:A Identity +NM_015660.3:c.994C>T NP_056475.1:p.Arg332Cys NC_000007.14:150693279:C:T p.(Arg332Cys) NC_000007.14:150693279:C:T p.(Arg332Cys) NC_000007.14:150693279:C:T Identity +NM_000296.4:c.3695G>C NP_000287.4:p.Ser1232Thr NC_000016.10:2111471:C:G p.(Ser1232Thr) NC_000016.10:2111471:C:G p.(Ser1232Thr) NC_000016.10:2111471:C:G Identity +NM_004557.4:c.4748G>A NP_004548.3:p.Arg1583His NC_000006.12:32198428:C:T p.(Arg1583His) NC_000006.12:32198428:C:T p.(Arg1583His) NC_000006.12:32198428:C:T Identity +NM_001284351.3:c.1562G>A NP_001271280.1:p.Arg521Gln NC_000005.10:479893:C:T p.(Arg521Gln) NC_000005.10:479893:C:T p.(Arg521Gln) NC_000005.10:479893:C:T Identity +NM_002458.3:c.6808A>T NP_002449.2:p.Thr2270Ser NC_000011.10:1243687:A:T p.(Thr2270Ser) NC_000011.10:1243687:A:T p.(Thr2270Ser) NC_000011.10:1243687:A:T Identity +NM_080878.3:c.868C>T NP_543154.1:p.Arg290Cys NC_000001.11:160945249:G:A p.(Arg290Cys) NC_000001.11:160945249:G:A p.(Arg290Cys) NC_000001.11:160945249:G:A Identity +NM_001080463.2:c.9496C>G NP_001073932.1:p.Gln3166Glu NC_000011.10:103234088:C:G p.(Gln3166Glu) NC_000011.10:103234088:C:G p.(Gln3166Glu) NC_000011.10:103234088:C:G Identity +NM_001075099.2:c.377C>T NP_001068567.1:p.Ser126Leu NC_000017.11:48187907:G:A p.(Ser126Leu) NC_000017.11:48187907:G:A p.(Ser126Leu) NC_000017.11:48187907:G:A Identity +NM_001319099.2:c.664A>G NP_001306028.1:p.Ile222Val NC_000002.12:25130107:A:G p.(Ile222Val) NC_000002.12:25130107:A:G p.(Ile222Val) NC_000002.12:25130107:A:G Identity +NM_001007075.2:c.1177A>G NP_001007076.1:p.Met393Val NC_000004.12:39096754:A:G p.(Met393Val) NC_000004.12:39096754:A:G p.(Met393Val) NC_000004.12:39096754:A:G Identity +NM_021571.4:c.104T>C NP_067546.1:p.Ile35Thr NC_000011.10:105138981:A:G p.(Ile35Thr) NC_000011.10:105138981:A:G p.(Ile35Thr) NC_000011.10:105138981:A:G Identity +NM_001001888.4:c.715G>C NP_001001888.3:p.Glu239Gln NC_000023.11:8466356:G:C p.(Glu239Gln) NC_000023.11:8466356:G:C p.(Glu239Gln) NC_000023.11:8466356:G:C Identity +NM_016497.4:c.293T>C NP_057581.2:p.Val98Ala NC_000012.12:6492364:A:G p.(Val98Ala) NC_000012.12:6492364:A:G p.(Val98Ala) NC_000012.12:6492364:A:G Identity +NM_022717.4:c.221A>G NP_073208.1:p.Tyr74Cys NC_000012.12:123465760:A:G p.(Tyr74Cys) NC_000012.12:123465760:A:G p.(Tyr74Cys) NC_000012.12:123465760:A:G Identity +NM_001005207.5:c.2369G>C NP_001005207.1:p.Cys790Ser NC_000017.11:59017312:C:G p.(Cys790Ser) NC_000017.11:59017312:C:G p.(Cys790Ser) NC_000017.11:59017312:C:G Identity +NM_001330163.2:c.470C>T NP_001317092.1:p.Pro157Leu NC_000017.11:27645338:C:T p.(Pro157Leu) NC_000017.11:27645338:C:T p.(Pro157Leu) NC_000017.11:27645338:C:T Identity +NM_175063.6:c.566C>T NP_778233.4:p.Pro189Leu NC_000019.10:50480743:C:T p.(Pro189Leu) NC_000019.10:50480743:C:T p.(Pro189Leu) NC_000019.10:50480743:C:T Identity +NM_016184.4:c.647G>A NP_057268.1:p.Gly216Asp NC_000012.12:8138219:G:A p.(Gly216Asp) NC_000012.12:8138219:G:A p.(Gly216Asp) NC_000012.12:8138219:G:A Identity +NM_005940.5:c.250G>A NP_005931.2:p.Asp84Asn NC_000022.11:23779327:G:A p.(Asp84Asn) NC_000022.11:23779327:G:A p.(Asp84Asn) NC_000022.11:23779327:G:A Identity +NM_001172630.2:c.1049C>T NP_001166101.1:p.Ala350Val NC_000019.10:35784206:C:T p.(Ala350Val) NC_000019.10:35784206:C:T p.(Ala350Val) NC_000019.10:35784206:C:T Identity +NM_018228.3:c.1073G>A NP_060698.2:p.Gly358Asp NC_000014.9:74357855:G:A p.(Gly358Asp) NC_000014.9:74357855:G:A p.(Gly358Asp) NC_000014.9:74357855:G:A Identity +NM_001012418.5:c.932C>T NP_001012418.2:p.Thr311Met NC_000006.12:2678327:G:A p.(Thr311Met) NC_000006.12:2678327:G:A p.(Thr311Met) NC_000006.12:2678327:G:A Identity +NM_001378620.1:c.1462A>T NP_001365549.1:p.Ile488Phe NC_000014.9:92486704:A:T p.(Ile488Phe) NC_000014.9:92486704:A:T p.(Ile488Phe) NC_000014.9:92486704:A:T Identity +NM_001288824.4:c.184G>A NP_001275753.1:p.Val62Ile NC_000005.10:132862505:C:T p.(Val62Ile) NC_000005.10:132862505:C:T p.(Val62Ile) NC_000005.10:132862505:C:T Identity +NM_001317734.2:c.406C>T NP_001304663.1:p.Arg136Trp NC_000001.11:154948282:G:A p.(Arg136Trp) NC_000001.11:154948282:G:A p.(Arg136Trp) NC_000001.11:154948282:G:A Identity +NM_001172698.2:c.1865G>A NP_001166169.1:p.Arg622Gln NC_000005.10:149836436:G:A p.(Arg622Gln) NC_000005.10:149836436:G:A p.(Arg622Gln) NC_000005.10:149836436:G:A Identity +NM_032852.4:c.130C>A NP_116241.2:p.Leu44Ile NC_000001.11:62805224:C:A p.(Leu44Ile) NC_000001.11:62805224:C:A p.(Leu44Ile) NC_000001.11:62805224:C:A Identity +NM_001008237.3:c.255A>G NP_001008238.1:p.Ile85Met NC_000002.12:19897929:T:C p.(Ile85Met) NC_000002.12:19897929:T:C p.(Ile85Met) NC_000002.12:19897929:T:C Identity +NM_001173523.2:c.718C>T NP_001166994.1:p.Arg240Cys NC_000004.12:30722139:C:T p.(Arg240Cys) NC_000004.12:30722139:C:T p.(Arg240Cys) NC_000004.12:30722139:C:T Identity +NM_025225.3:c.556C>T NP_079501.2:p.Pro186Ser NC_000022.11:43932946:C:T p.(Pro186Ser) NC_000022.11:43932946:C:T p.(Pro186Ser) NC_000022.11:43932946:C:T Identity +NM_001005369.1:c.416A>T NP_001005369.1:p.Lys139Ile NC_000002.12:55254740:T:A p.(Lys139Ile) NC_000002.12:55254740:T:A p.(Lys139Ile) NC_000002.12:55254740:T:A Identity +NM_001261435.1:c.1094C>G NP_001248364.1:p.Ser365Cys NC_000002.12:201880062:C:G p.(Ser365Cys) NC_000002.12:201880062:C:G p.(Ser365Cys) NC_000002.12:201880062:C:G Identity +NM_001017963.3:c.1106A>G NP_001017963.2:p.Lys369Arg NC_000014.9:102084921:T:C p.(Lys369Arg) NC_000014.9:102084921:T:C p.(Lys369Arg) NC_000014.9:102084921:T:C Identity +NM_016360.4:c.660A>C NP_057444.2:p.Glu220Asp NC_000017.11:63607430:A:C p.(Glu220Asp) NC_000017.11:63607430:A:C p.(Glu220Asp) NC_000017.11:63607430:A:C Identity +NM_013448.3:c.1010C>T NP_038476.2:p.Ala337Val NC_000014.9:34800341:G:A p.(Ala337Val) NC_000014.9:34800341:G:A p.(Ala337Val) NC_000014.9:34800341:G:A Identity +NM_001040.5:c.809C>T NP_001031.2:p.Thr270Ile NC_000017.11:7631971:C:T p.(Thr270Ile) NC_000017.11:7631971:C:T p.(Thr270Ile) NC_000017.11:7631971:C:T Identity +NM_001242416.2:c.295G>A NP_001229345.1:p.Gly99Ser NC_000014.9:102208647:G:A p.(Gly99Ser) NC_000014.9:102208647:G:A p.(Gly99Ser) NC_000014.9:102208647:G:A Identity +NM_014681.6:c.668G>A NP_055496.2:p.Arg223His NC_000019.10:47353697:G:A p.(Arg223His) NC_000019.10:47353697:G:A p.(Arg223His) NC_000019.10:47353697:G:A Identity +NM_001370496.1:c.1138G>A NP_001357425.1:p.Gly380Arg NC_000016.10:48214990:C:T p.(Gly380Arg) NC_000016.10:48214990:C:T p.(Gly380Arg) NC_000016.10:48214990:C:T Identity +NM_014698.3:c.2285C>T NP_055513.2:p.Ser762Leu NC_000001.11:225847178:G:A p.(Ser762Leu) NC_000001.11:225847178:G:A p.(Ser762Leu) NC_000001.11:225847178:G:A Identity +NM_016333.4:c.2525C>G NP_057417.3:p.Pro842Arg NC_000016.10:2763052:C:G p.(Pro842Arg) NC_000016.10:2763052:C:G p.(Pro842Arg) NC_000016.10:2763052:C:G Identity +NM_001085365.2:c.235A>T NP_001078834.1:p.Met79Leu NC_000002.12:131491959:T:A p.(Met79Leu) NC_000002.12:131491959:T:A p.(Met79Leu) NC_000002.12:131491959:T:A Identity +NM_001376049.1:c.821A>G NP_001362978.1:p.Lys274Arg NC_000005.10:74804583:T:C p.(Lys274Arg) NC_000005.10:74804583:T:C p.(Lys274Arg) NC_000005.10:74804583:T:C Identity +NM_138440.3:c.646C>T NP_612449.2:p.Arg216Cys NC_000016.10:4381522:C:T p.(Arg216Cys) NC_000016.10:4381522:C:T p.(Arg216Cys) NC_000016.10:4381522:C:T Identity +NM_005293.3:c.79G>A NP_005284.2:p.Ala27Thr NC_000008.11:141357844:C:T p.(Ala27Thr) NC_000008.11:141357844:C:T p.(Ala27Thr) NC_000008.11:141357844:C:T Identity +NM_080627.4:c.4879G>A NP_542194.2:p.Ala1627Thr NC_000020.11:36786591:C:T p.(Ala1627Thr) NC_000020.11:36786591:C:T p.(Ala1627Thr) NC_000020.11:36786591:C:T Identity +NM_001256339.1:c.476G>C NP_001243268.1:p.Trp159Ser NC_000008.11:23681224:C:G p.(Trp159Ser) NC_000008.11:23681224:C:G p.(Trp159Ser) NC_000008.11:23681224:C:G Identity +NM_012343.4:c.250A>G NP_036475.3:p.Lys84Glu NC_000005.10:43613005:A:G p.(Lys84Glu) NC_000005.10:43613005:A:G p.(Lys84Glu) NC_000005.10:43613005:A:G Identity +NM_024042.4:c.709C>T NP_076947.1:p.Arg237Cys NC_000016.10:717213:C:T p.(Arg237Cys) NC_000016.10:717213:C:T p.(Arg237Cys) NC_000016.10:717213:C:T Identity +NM_001202233.2:c.1454G>A NP_001189162.1:p.Arg485Gln NC_000012.12:52057404:G:A p.(Arg485Gln) NC_000012.12:52057404:G:A p.(Arg485Gln) NC_000012.12:52057404:G:A Identity +NM_001010909.5:c.995A>C NP_001010909.2:p.Asn332Thr NC_000006.12:30987169:A:C p.(Asn332Thr) NC_000006.12:30987169:A:C p.(Asn332Thr) NC_000006.12:30987169:A:C Identity +NM_001300783.2:c.236C>T NP_001287712.1:p.Thr79Met NC_000005.10:120686029:C:T p.(Thr79Met) NC_000005.10:120686029:C:T p.(Thr79Met) NC_000005.10:120686029:C:T Identity +NM_001284274.3:c.314G>A NP_001271203.2:p.Arg105His NC_000010.11:91460471:G:A p.(Arg105His) NC_000010.11:91460471:G:A p.(Arg105His) NC_000010.11:91460471:G:A Identity +NM_032951.3:c.190C>T NP_116569.1:p.Arg64Trp NC_000007.14:73624302:G:A p.(Arg64Trp) NC_000007.14:73624302:G:A p.(Arg64Trp) NC_000007.14:73624302:G:A Identity +NM_001330152.2:c.878G>A NP_001317081.1:p.Ser293Asn NC_000017.11:19947504:C:T p.(Ser293Asn) NC_000017.11:19947504:C:T p.(Ser293Asn) NC_000017.11:19947504:C:T Identity +NM_032811.3:c.40C>T NP_116200.2:p.Pro14Ser NC_000011.10:124623122:C:T p.(Pro14Ser) NC_000011.10:124623122:C:T p.(Pro14Ser) NC_000011.10:124623122:C:T Identity +NM_133448.3:c.542G>A NP_597705.2:p.Gly181Asp NC_000012.12:129700235:C:T p.(Gly181Asp) NC_000012.12:129700235:C:T p.(Gly181Asp) NC_000012.12:129700235:C:T Identity +NM_000296.4:c.9709G>A NP_000287.4:p.Ala3237Thr NC_000016.10:2100168:C:T p.(Ala3237Thr) NC_000016.10:2100168:C:T p.(Ala3237Thr) NC_000016.10:2100168:C:T Identity +NM_032656.4:c.2642G>A NP_116045.2:p.Arg881Gln NC_000012.12:124953932:C:T p.(Arg881Gln) NC_000012.12:124953932:C:T p.(Arg881Gln) NC_000012.12:124953932:C:T Identity +NM_198488.5:c.1916A>T NP_940890.4:p.Lys639Met NC_000008.11:143727544:T:A p.(Lys639Met) NC_000008.11:143727544:T:A p.(Lys639Met) NC_000008.11:143727544:T:A Identity +NM_001134453.3:c.1601G>T NP_001127925.1:p.Gly534Val NC_000018.10:31403598:G:T p.(Gly534Val) NC_000018.10:31403598:G:T p.(Gly534Val) NC_000018.10:31403598:G:T Identity +NM_001377321.1:c.4117G>A NP_001364250.1:p.Glu1373Lys NC_000017.11:69153323:C:T p.(Glu1373Lys) NC_000017.11:69153323:C:T p.(Glu1373Lys) NC_000017.11:69153323:C:T Identity +NM_001292038.2:c.1966G>A NP_001278967.1:p.Gly656Ser NC_000004.12:6609909:G:A p.(Gly656Ser) NC_000004.12:6609909:G:A p.(Gly656Ser) NC_000004.12:6609909:G:A Identity +NM_006437.4:c.2593G>A NP_006428.2:p.Asp865Asn NC_000013.11:24455181:C:T p.(Asp865Asn) NC_000013.11:24455181:C:T p.(Asp865Asn) NC_000013.11:24455181:C:T Identity +NM_001142644.2:c.1594A>G NP_001136116.1:p.Ser532Gly NC_000002.12:228019259:T:C p.(Ser532Gly) NC_000002.12:228019259:T:C p.(Ser532Gly) NC_000002.12:228019259:T:C Identity +NM_017839.5:c.1573G>A NP_060309.2:p.Ala525Thr NC_000016.10:55583035:G:A p.(Ala525Thr) NC_000016.10:55583035:G:A p.(Ala525Thr) NC_000016.10:55583035:G:A Identity +NM_001426.4:c.244C>T NP_001417.3:p.Pro82Ser NC_000002.12:118846923:G:A p.(Pro82Ser) NC_000002.12:118846923:G:A p.(Pro82Ser) NC_000002.12:118846923:G:A Identity +NM_001142301.1:c.1840G>C NP_001135773.1:p.Val614Leu NC_000008.11:93797452:G:C p.(Val614Leu) NC_000008.11:93797452:G:C p.(Val614Leu) NC_000008.11:93797452:G:C Identity +NM_001128929.3:c.1459G>C NP_001122401.1:p.Gly487Arg NC_000003.12:77558122:G:C p.(Gly487Arg) NC_000003.12:77558122:G:C p.(Gly487Arg) NC_000003.12:77558122:G:C Identity +NM_014469.5:c.370C>G NP_055284.3:p.Arg124Gly NC_000011.10:7089489:C:G p.(Arg124Gly) NC_000011.10:7089489:C:G p.(Arg124Gly) NC_000011.10:7089489:C:G Identity +NM_001145716.2:c.449A>T NP_001139188.1:p.Asp150Val NC_000006.12:36294391:A:T p.(Asp150Val) NC_000006.12:36294391:A:T p.(Asp150Val) NC_000006.12:36294391:A:T Identity +NM_001256171.2:c.782A>T NP_001243100.1:p.Lys261Ile NC_000019.10:20949205:A:T p.(Lys261Ile) NC_000019.10:20949205:A:T p.(Lys261Ile) NC_000019.10:20949205:A:T Identity +NM_001130918.3:c.2153C>T NP_001124390.1:p.Thr718Met NC_000017.11:48769984:G:A p.(Thr718Met) NC_000017.11:48769984:G:A p.(Thr718Met) NC_000017.11:48769984:G:A Identity +NM_175066.4:c.1269G>C NP_778236.2:p.Met423Ile NC_000012.12:132141001:C:G p.(Met423Ile) NC_000012.12:132141001:C:G p.(Met423Ile) NC_000012.12:132141001:C:G Identity +NM_001286429.2:c.1264C>A NP_001273358.1:p.Pro422Thr NC_000015.10:71748522:C:A p.(Pro422Thr) NC_000015.10:71748522:C:A p.(Pro422Thr) NC_000015.10:71748522:C:A Identity +NM_001198950.3:c.5023A>C NP_001185879.1:p.Ser1675Arg NC_000013.11:109141234:A:C p.(Ser1675Arg) NC_000013.11:109141234:A:C p.(Ser1675Arg) NC_000013.11:109141234:A:C Identity +NM_001306146.2:c.1847G>A NP_001293075.1:p.Cys616Tyr NC_000015.10:50242302:C:T p.(Cys616Tyr) NC_000015.10:50242302:C:T p.(Cys616Tyr) NC_000015.10:50242302:C:T Identity +NM_014786.4:c.2846G>A NP_055601.2:p.Arg949Gln NC_000011.10:73311483:G:A p.(Arg949Gln) NC_000011.10:73311483:G:A p.(Arg949Gln) NC_000011.10:73311483:G:A Identity +NM_001134851.4:c.121G>A NP_001128323.2:p.Gly41Ser NC_000005.10:134138082:G:A p.(Gly41Ser) NC_000005.10:134138082:G:A p.(Gly41Ser) NC_000005.10:134138082:G:A Identity +NM_001253772.2:c.529C>T NP_001240701.1:p.Arg177Cys NC_000001.11:114138036:G:A p.(Arg177Cys) NC_000001.11:114138036:G:A p.(Arg177Cys) NC_000001.11:114138036:G:A Identity +NM_001098537.3:c.257G>A NP_001092007.2:p.Arg86Gln NC_000009.12:137546845:C:T p.(Arg86Gln) NC_000009.12:137546845:C:T p.(Arg86Gln) NC_000009.12:137546845:C:T Identity +NM_001135773.2:c.1276G>A NP_001129245.1:p.Gly426Arg NC_000020.11:49905905:C:T p.(Gly426Arg) NC_000020.11:49905905:C:T p.(Gly426Arg) NC_000020.11:49905905:C:T Identity +NM_001387039.1:c.194G>A NP_001373968.1:p.Arg65His NC_000006.12:114058103:C:T p.(Arg65His) NC_000006.12:114058103:C:T p.(Arg65His) NC_000006.12:114058103:C:T Identity +NM_002164.6:c.985C>T NP_002155.1:p.Arg329Trp NC_000008.11:39927957:C:T p.(Arg329Trp) NC_000008.11:39927957:C:T p.(Arg329Trp) NC_000008.11:39927957:C:T Identity +NM_001291285.3:c.10379A>C NP_001278214.1:p.Gln3460Pro NC_000004.12:125451388:A:C p.(Gln3460Pro) NC_000004.12:125451388:A:C p.(Gln3460Pro) NC_000004.12:125451388:A:C Identity +NM_000955.3:c.188G>T NP_000946.2:p.Arg63Leu NC_000019.10:14474132:C:A p.(Arg63Leu) NC_000019.10:14474132:C:A p.(Arg63Leu) NC_000019.10:14474132:C:A Identity +NM_001146312.3:c.2102A>G NP_001139784.1:p.His701Arg NC_000017.11:12756456:A:G p.(His701Arg) NC_000017.11:12756456:A:G p.(His701Arg) NC_000017.11:12756456:A:G Identity +NM_001142310.2:c.329G>A NP_001135782.1:p.Arg110Gln NC_000002.12:216099976:G:A p.(Arg110Gln) NC_000002.12:216099976:G:A p.(Arg110Gln) NC_000002.12:216099976:G:A Identity +NM_018897.3:c.11659G>A NP_061720.2:p.Gly3887Ser NC_000002.12:195754441:C:T p.(Gly3887Ser) NC_000002.12:195754441:C:T p.(Gly3887Ser) NC_000002.12:195754441:C:T Identity +NM_001324081.1:c.986C>G NP_001311010.1:p.Ser329Cys NC_000016.10:1777178:G:C p.(Ser329Cys) NC_000016.10:1777178:G:C p.(Ser329Cys) NC_000016.10:1777178:G:C Identity +NM_001621.5:c.2398A>G NP_001612.1:p.Asn800Asp NC_000007.14:17340222:A:G p.(Asn800Asp) NC_000007.14:17340222:A:G p.(Asn800Asp) NC_000007.14:17340222:A:G Identity +NM_001164276.2:c.685C>G NP_001157748.1:p.Pro229Ala NC_000019.10:12273713:G:C p.(Pro229Ala) NC_000019.10:12273713:G:C p.(Pro229Ala) NC_000019.10:12273713:G:C Identity +NM_001005469.2:c.729C>A NP_001005469.1:p.Phe243Leu NC_000011.10:58402680:G:T p.(Phe243Leu) NC_000011.10:58402680:G:T p.(Phe243Leu) NC_000011.10:58402680:G:T Identity +NM_001350233.2:c.655C>T NP_001337162.1:p.Arg219Trp NC_000004.12:8465444:C:T p.(Arg219Trp) NC_000004.12:8465444:C:T p.(Arg219Trp) NC_000004.12:8465444:C:T Identity +NM_001286581.2:c.2231A>G NP_001273510.1:p.His744Arg NC_000011.10:607686:A:G p.(His744Arg) NC_000011.10:607686:A:G p.(His744Arg) NC_000011.10:607686:A:G Identity +NM_001193431.3:c.91C>A NP_001180360.2:p.Leu31Met NC_000001.11:113859456:G:T p.(Leu31Met) NC_000001.11:113859456:G:T p.(Leu31Met) NC_000001.11:113859456:G:T Identity +NM_001130142.2:c.1300G>C NP_001123614.1:p.Ala434Pro NC_000011.10:124134974:G:C p.(Ala434Pro) NC_000011.10:124134974:G:C p.(Ala434Pro) NC_000011.10:124134974:G:C Identity +NM_015419.4:c.1444A>G NP_056234.2:p.Ser482Gly NC_000023.11:3324240:T:C p.(Ser482Gly) NC_000023.11:3324240:T:C p.(Ser482Gly) NC_000023.11:3324240:T:C Identity +NM_001363730.2:c.847C>T NP_001350659.1:p.Pro283Ser NC_000015.10:63924826:G:A p.(Pro283Ser) NC_000015.10:63924826:G:A p.(Pro283Ser) NC_000015.10:63924826:G:A Identity +NM_004913.3:c.1346C>T NP_004904.2:p.Pro449Leu NC_000016.10:89709818:G:A p.(Pro449Leu) NC_000016.10:89709818:G:A p.(Pro449Leu) NC_000016.10:89709818:G:A Identity +NM_080826.2:c.836C>T NP_543016.1:p.Ala279Val NC_000020.11:13292421:C:T p.(Ala279Val) NC_000020.11:13292421:C:T p.(Ala279Val) NC_000020.11:13292421:C:T Identity +NM_001377986.2:c.584C>T NP_001364915.1:p.Pro195Leu NC_000023.11:18779034:C:T p.(Pro195Leu) NC_000023.11:18779034:C:T p.(Pro195Leu) NC_000023.11:18779034:C:T Identity +NM_031430.3:c.321G>T NP_113618.2:p.Gln107His NC_000017.11:1649412:C:A p.(Gln107His) NC_000017.11:1649412:C:A p.(Gln107His) NC_000017.11:1649412:C:A Identity +NM_001039999.3:c.1721A>G NP_001035088.2:p.Asn574Ser NC_000017.11:18977944:T:C p.(Asn574Ser) NC_000017.11:18977944:T:C p.(Asn574Ser) NC_000017.11:18977944:T:C Identity +NM_001100122.2:c.139A>G NP_001093592.1:p.Ile47Val NC_000019.10:1127734:T:C p.(Ile47Val) NC_000019.10:1127734:T:C p.(Ile47Val) NC_000019.10:1127734:T:C Identity +NM_001267040.1:c.1781C>A NP_001253969.1:p.Pro594His NC_000006.12:15501257:C:A p.(Pro594His) NC_000006.12:15501257:C:A p.(Pro594His) NC_000006.12:15501257:C:A Identity +NM_001278469.3:c.4333G>C NP_001265398.1:p.Val1445Leu NC_000012.12:62571400:G:C p.(Val1445Leu) NC_000012.12:62571400:G:C p.(Val1445Leu) NC_000012.12:62571400:G:C Identity +NM_014062.3:c.229C>T NP_054781.1:p.Pro77Ser NC_000016.10:69752338:G:A p.(Pro77Ser) NC_000016.10:69752338:G:A p.(Pro77Ser) NC_000016.10:69752338:G:A Identity +NM_033342.4:c.376G>T NP_203128.1:p.Ala126Ser NC_000005.10:181204734:C:A p.(Ala126Ser) NC_000005.10:181204734:C:A p.(Ala126Ser) NC_000005.10:181204734:C:A Identity +NM_001037763.3:c.2593G>A NP_001032852.2:p.Val865Met NC_000007.14:7373312:C:T p.(Val865Met) NC_000007.14:7373312:C:T p.(Val865Met) NC_000007.14:7373312:C:T Identity +NM_014282.4:c.728C>T NP_055097.2:p.Ser243Leu NC_000009.12:96465762:C:T p.(Ser243Leu) NC_000009.12:96465762:C:T p.(Ser243Leu) NC_000009.12:96465762:C:T Identity +NM_152513.4:c.3548G>A NP_689726.3:p.Arg1183Gln NC_000022.11:41795423:G:A p.(Arg1183Gln) NC_000022.11:41795423:G:A p.(Arg1183Gln) NC_000022.11:41795423:G:A Identity +NM_001288976.2:c.271G>A NP_001275905.1:p.Glu91Lys NC_000022.11:41636187:G:A p.(Glu91Lys) NC_000022.11:41636187:G:A p.(Glu91Lys) NC_000022.11:41636187:G:A Identity +NM_001170938.2:c.898G>A NP_001164409.1:p.Val300Met NC_000019.10:18435836:C:T p.(Val300Met) NC_000019.10:18435836:C:T p.(Val300Met) NC_000019.10:18435836:C:T Identity +NM_001307977.1:c.907G>A NP_001294906.1:p.Gly303Ser NC_000011.10:62833805:C:T p.(Gly303Ser) NC_000011.10:62833805:C:T p.(Gly303Ser) NC_000011.10:62833805:C:T Identity +NM_001005368.3:c.260G>A NP_001005368.1:p.Arg87Gln NC_000010.11:43644611:C:T p.(Arg87Gln) NC_000010.11:43644611:C:T p.(Arg87Gln) NC_000010.11:43644611:C:T Identity +NM_194449.4:c.3731T>C NP_919431.2:p.Val1244Ala NC_000018.10:62972683:T:C p.(Val1244Ala) NC_000018.10:62972683:T:C p.(Val1244Ala) NC_000018.10:62972683:T:C Identity +NM_001363823.2:c.323T>C NP_001350752.1:p.Val108Ala NC_000002.12:32064153:T:C p.(Val108Ala) NC_000002.12:32064153:T:C p.(Val108Ala) NC_000002.12:32064153:T:C Identity +NM_002547.3:c.1570A>G NP_002538.1:p.Met524Val NC_000023.11:68096985:T:C p.(Met524Val) NC_000023.11:68096985:T:C p.(Met524Val) NC_000023.11:68096985:T:C Identity +NM_018902.5:c.1865G>A NP_061725.1:p.Arg622His NC_000005.10:140870967:G:A p.(Arg622His) NC_000005.10:140870967:G:A p.(Arg622His) NC_000005.10:140870967:G:A Identity +NM_001277115.2:c.10682A>C NP_001264044.1:p.Lys3561Thr NC_000007.14:21818329:A:C p.(Lys3561Thr) NC_000007.14:21818329:A:C p.(Lys3561Thr) NC_000007.14:21818329:A:C Identity +NM_001128930.3:c.1262A>G NP_001122402.1:p.Tyr421Cys NC_000008.11:23437021:T:C p.(Tyr421Cys) NC_000008.11:23437021:T:C p.(Tyr421Cys) NC_000008.11:23437021:T:C Identity +NM_001098482.2:c.1637C>T NP_001091952.1:p.Ser546Leu NC_000019.10:18775716:C:T p.(Ser546Leu) NC_000019.10:18775716:C:T p.(Ser546Leu) NC_000019.10:18775716:C:T Identity +NM_001040697.4:c.590G>C NP_001035787.1:p.Cys197Ser NC_000011.10:18564913:C:G p.(Cys197Ser) NC_000011.10:18564913:C:G p.(Cys197Ser) NC_000011.10:18564913:C:G Identity +NM_003736.4:c.1439G>T NP_003727.1:p.Gly480Val NC_000005.10:141389322:G:T p.(Gly480Val) NC_000005.10:141389322:G:T p.(Gly480Val) NC_000005.10:141389322:G:T Identity +NM_002472.3:c.184G>A NP_002463.2:p.Val62Ile NC_000017.11:10420043:C:T p.(Val62Ile) NC_000017.11:10420043:C:T p.(Val62Ile) NC_000017.11:10420043:C:T Identity +NM_001270679.2:c.214T>C NP_001257608.1:p.Ser72Pro NC_000010.11:72834421:T:C p.(Ser72Pro) NC_000010.11:72834421:T:C p.(Ser72Pro) NC_000010.11:72834421:T:C Identity +NM_173156.3:c.1008G>A NP_775179.1:p.Met336Ile NC_000001.11:183533676:G:A p.(Met336Ile) NC_000001.11:183533676:G:A p.(Met336Ile) NC_000001.11:183533676:G:A Identity +NM_001079669.4:c.1766A>G NP_001073137.1:p.Asn589Ser NC_000013.11:100625547:T:C p.(Asn589Ser) NC_000013.11:100625547:T:C p.(Asn589Ser) NC_000013.11:100625547:T:C Identity +NM_003417.5:c.470A>G NP_003408.1:p.Glu157Gly NC_000019.10:57211566:A:G p.(Glu157Gly) NC_000019.10:57211566:A:G p.(Glu157Gly) NC_000019.10:57211566:A:G Identity +NM_032423.3:c.1653T>G NP_115799.2:p.Cys551Trp NC_000019.10:52416504:T:G p.(Cys551Trp) NC_000019.10:52416504:T:G p.(Cys551Trp) NC_000019.10:52416504:T:G Identity +NM_001001668.4:c.208G>A NP_001001668.3:p.Asp70Asn NC_000019.10:56574657:G:A p.(Asp70Asn) NC_000019.10:56574657:G:A p.(Asp70Asn) NC_000019.10:56574657:G:A Identity +NM_001330004.2:c.889G>A NP_001316933.1:p.Asp297Asn NC_000002.12:227907212:G:A p.(Asp297Asn) NC_000002.12:227907212:G:A p.(Asp297Asn) NC_000002.12:227907212:G:A Identity +NM_004464.4:c.339C>G NP_004455.2:p.His113Gln NC_000004.12:80267162:C:G p.(His113Gln) NC_000004.12:80267162:C:G p.(His113Gln) NC_000004.12:80267162:C:G Identity +NM_001287059.2:c.3073C>G NP_001273988.1:p.Pro1025Ala NC_000007.14:43479684:C:G p.(Pro1025Ala) NC_000007.14:43479684:C:G p.(Pro1025Ala) NC_000007.14:43479684:C:G Identity +NM_001308210.2:c.2012C>G NP_001295139.1:p.Ser671Cys NC_000018.10:75287418:C:G p.(Ser671Cys) NC_000018.10:75287418:C:G p.(Ser671Cys) NC_000018.10:75287418:C:G Identity +NM_001145224.3:c.1625C>T NP_001138696.1:p.Ala542Val NC_000015.10:75293759:C:T p.(Ala542Val) NC_000015.10:75293759:C:T p.(Ala542Val) NC_000015.10:75293759:C:T Identity +NM_001008781.3:c.12209G>A NP_001008781.2:p.Arg4070Gln NC_000011.10:92880811:G:A p.(Arg4070Gln) NC_000011.10:92880811:G:A p.(Arg4070Gln) NC_000011.10:92880811:G:A Identity +NM_005914.4:c.1112T>C NP_005905.2:p.Ile371Thr NC_000008.11:47967422:T:C p.(Ile371Thr) NC_000008.11:47967422:T:C p.(Ile371Thr) NC_000008.11:47967422:T:C Identity +LRG_30t1:c.1724C>T LRG_30p1:p.Pro575Leu NC_000005.10:40962146:C:T ERR:Data provider error: ValueError: Transcript LRG_30t1 not found ERR:Data provider error: ValueError: Transcript LRG_30t1 not found ERR:AlignmentMapper(tx_ac=LRG_30t1, alt_ac=LRG_30t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_30t1, alt_ac=LRG_30t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_30t1 not found +NM_152228.3:c.161G>A NP_689414.2:p.Arg54Gln NC_000001.11:1331505:G:A p.(Arg54Gln) NC_000001.11:1331505:G:A p.(Arg54Gln) NC_000001.11:1331505:G:A Identity +NM_080867.3:c.575A>G NP_543143.1:p.Asn192Ser NC_000014.9:55043615:A:G p.(Asn192Ser) NC_000014.9:55043615:A:G p.(Asn192Ser) NC_000014.9:55043615:A:G Identity +NM_001290331.2:c.2234G>A NP_001277260.1:p.Arg745Gln NC_000019.10:6467543:C:T p.(Arg745Gln) NC_000019.10:6467543:C:T p.(Arg745Gln) NC_000019.10:6467543:C:T Identity +NM_001128141.3:c.976G>A NP_001121613.1:p.Ala326Thr NC_000016.10:89637881:G:A p.(Ala326Thr) NC_000016.10:89637881:G:A p.(Ala326Thr) NC_000016.10:89637881:G:A Identity +NM_003735.3:c.1942G>A NP_003726.1:p.Asp648Asn NC_000005.10:141432700:G:A p.(Asp648Asn) NC_000005.10:141432700:G:A p.(Asp648Asn) NC_000005.10:141432700:G:A Identity +NM_001353345.2:c.4371A>T NP_001340274.1:p.Glu1457Asp NC_000012.12:121822949:A:T p.(Glu1457Asp) NC_000012.12:121822949:A:T p.(Glu1457Asp) NC_000012.12:121822949:A:T Identity +NM_174924.2:c.655C>T NP_777584.1:p.Leu219Phe NC_000016.10:20374847:G:A p.(Leu219Phe) NC_000016.10:20374847:G:A p.(Leu219Phe) NC_000016.10:20374847:G:A Identity +NM_001005515.2:c.410C>T NP_001005515.1:p.Thr137Ile NC_000003.12:98169108:C:T p.(Thr137Ile) NC_000003.12:98169108:C:T p.(Thr137Ile) NC_000003.12:98169108:C:T Identity +NM_014109.4:c.593G>A NP_054828.2:p.Arg198Gln NC_000008.11:123371281:C:T p.(Arg198Gln) NC_000008.11:123371281:C:T p.(Arg198Gln) NC_000008.11:123371281:C:T Identity +NM_020311.3:c.230A>G NP_064707.1:p.Tyr77Cys NC_000002.12:236580694:A:G p.(Tyr77Cys) NC_000002.12:236580694:A:G p.(Tyr77Cys) NC_000002.12:236580694:A:G Identity +NM_004225.3:c.1961A>G NP_004216.2:p.Asn654Ser NC_000008.11:8891097:T:C p.(Asn654Ser) NC_000008.11:8891097:T:C p.(Asn654Ser) NC_000008.11:8891097:T:C Identity +NM_001286563.3:c.979G>A NP_001273492.1:p.Ala327Thr NC_000011.10:123606671:G:A p.(Ala327Thr) NC_000011.10:123606671:G:A p.(Ala327Thr) NC_000011.10:123606671:G:A Identity +NM_001410864.1:c.3535C>T NP_001397793.1:p.Arg1179Trp NC_000004.12:183312418:C:T p.(Arg1179Trp) NC_000004.12:183312418:C:T p.(Arg1179Trp) NC_000004.12:183312418:C:T Identity +NM_014406.5:c.727C>T NP_055221.1:p.Leu243Phe NC_000022.11:16591823:G:A p.(Leu243Phe) NC_000022.11:16591823:G:A p.(Leu243Phe) NC_000022.11:16591823:G:A Identity +NM_001195129.2:c.1682C>A NP_001182058.1:p.Ala561Asp NC_000002.12:232525375:C:A p.(Ala561Asp) NC_000002.12:232525375:C:A p.(Ala561Asp) NC_000002.12:232525375:C:A Identity +NM_001289975.1:c.469A>G NP_001276904.1:p.Lys157Glu NC_000002.12:159448268:T:C p.(Lys157Glu) NC_000002.12:159448268:T:C p.(Lys157Glu) NC_000002.12:159448268:T:C Identity +NM_001870.4:c.280C>T NP_001861.2:p.His94Tyr NC_000003.12:148878450:C:T p.(His94Tyr) NC_000003.12:148878450:C:T p.(His94Tyr) NC_000003.12:148878450:C:T Identity +NM_000789.4:c.2012A>G NP_000780.1:p.Asn671Ser NC_000017.11:63485325:A:G p.(Asn671Ser) NC_000017.11:63485325:A:G p.(Asn671Ser) NC_000017.11:63485325:A:G Identity +NM_001145811.2:c.2366G>A NP_001139283.1:p.Ser789Asn NC_000011.10:15972848:C:T p.(Ser789Asn) NC_000011.10:15972848:C:T p.(Ser789Asn) NC_000011.10:15972848:C:T Identity +NM_001199206.4:c.670C>T NP_001186135.1:p.Arg224Cys NC_000011.10:94307608:C:T p.(Arg224Cys) NC_000011.10:94307608:C:T p.(Arg224Cys) NC_000011.10:94307608:C:T Identity +NM_001099695.2:c.1312G>T NP_001093165.1:p.Gly438Cys NC_000007.14:150372381:G:T p.(Gly438Cys) NC_000007.14:150372381:G:T p.(Gly438Cys) NC_000007.14:150372381:G:T Identity +NM_001077349.1:c.550C>G NP_001070817.1:p.Leu184Val NC_000019.10:20006855:G:C p.(Leu184Val) NC_000019.10:20006855:G:C p.(Leu184Val) NC_000019.10:20006855:G:C Identity +NM_001285444.2:c.185G>A NP_001272373.1:p.Gly62Asp NC_000016.10:15004209:G:A p.(Gly62Asp) NC_000016.10:15004209:G:A p.(Gly62Asp) NC_000016.10:15004209:G:A Identity +NM_001288713.1:c.1230G>C NP_001275642.1:p.Glu410Asp NC_000011.10:20947409:G:C p.(Glu410Asp) NC_000011.10:20947409:G:C p.(Glu410Asp) NC_000011.10:20947409:G:C Identity +NM_001159531.2:c.797C>G NP_001153003.1:p.Ala266Gly NC_000014.9:100538953:G:C p.(Ala266Gly) NC_000014.9:100538953:G:C p.(Ala266Gly) NC_000014.9:100538953:G:C Identity +NM_001216.3:c.937A>G NP_001207.2:p.Ile313Val NC_000009.12:35679213:A:G p.(Ile313Val) NC_000009.12:35679213:A:G p.(Ile313Val) NC_000009.12:35679213:A:G Identity +NM_001350162.2:c.1430C>T NP_001337091.1:p.Ala477Val NC_000008.11:30848736:G:A p.(Ala477Val) NC_000008.11:30848736:G:A p.(Ala477Val) NC_000008.11:30848736:G:A Identity +NM_017625.3:c.8A>C NP_060095.2:p.Gln3Pro NC_000001.11:160884869:T:G p.(Gln3Pro) NC_000001.11:160884869:T:G p.(Gln3Pro) NC_000001.11:160884869:T:G Identity +NM_014182.5:c.103A>G NP_054901.1:p.Met35Val NC_000012.12:55819101:A:G p.(Met35Val) NC_000012.12:55819101:A:G p.(Met35Val) NC_000012.12:55819101:A:G Identity +NM_001161452.2:c.319C>T NP_001154924.1:p.His107Tyr NC_000011.10:61353857:G:A p.(His107Tyr) NC_000011.10:61353857:G:A p.(His107Tyr) NC_000011.10:61353857:G:A Identity +NM_133373.5:c.1463G>A NP_588614.1:p.Arg488Gln NC_000017.11:45115440:C:T p.(Arg488Gln) NC_000017.11:45115440:C:T p.(Arg488Gln) NC_000017.11:45115440:C:T Identity +NM_001005466.2:c.119T>A NP_001005466.2:p.Ile40Asn NC_000014.9:21634723:A:T p.(Ile40Asn) NC_000014.9:21634723:A:T p.(Ile40Asn) NC_000014.9:21634723:A:T Identity +NM_033225.6:c.5504C>T NP_150094.5:p.Thr1835Met NC_000008.11:3188905:G:A p.(Thr1835Met) NC_000008.11:3188905:G:A p.(Thr1835Met) NC_000008.11:3188905:G:A Identity +NM_001376049.1:c.1814C>T NP_001362978.1:p.Ala605Val NC_000005.10:74781658:G:A p.(Ala605Val) NC_000005.10:74781658:G:A p.(Ala605Val) NC_000005.10:74781658:G:A Identity +NM_001308207.1:c.1328T>C NP_001295136.1:p.Val443Ala NC_000008.11:144547757:A:G p.(Val443Ala) NC_000008.11:144547757:A:G p.(Val443Ala) NC_000008.11:144547757:A:G Identity +NM_001144663.2:c.2464G>A NP_001138135.1:p.Ala822Thr NC_000008.11:94128274:C:T p.(Ala822Thr) NC_000008.11:94128274:C:T p.(Ala822Thr) NC_000008.11:94128274:C:T Identity +NM_001286136.2:c.531C>G NP_001273065.1:p.His177Gln NC_000011.10:198581:C:G p.(His177Gln) NC_000011.10:198581:C:G p.(His177Gln) NC_000011.10:198581:C:G Identity +NM_001347886.2:c.3590T>G NP_001334815.1:p.Val1197Gly NC_000016.10:21060348:A:C p.(Val1197Gly) NC_000016.10:21060348:A:C p.(Val1197Gly) NC_000016.10:21060348:A:C Identity +NM_002772.3:c.1313G>A NP_002763.3:p.Ser438Asn NC_000021.9:18343620:C:T p.(Ser438Asn) NC_000021.9:18343620:C:T p.(Ser438Asn) NC_000021.9:18343620:C:T Identity +NM_052899.3:c.1604C>G NP_443131.2:p.Ala535Gly NC_000005.10:176598230:G:C p.(Ala535Gly) NC_000005.10:176598230:G:C p.(Ala535Gly) NC_000005.10:176598230:G:C Identity +NM_013378.3:c.253G>A NP_037510.1:p.Asp85Asn NC_000022.11:23752994:C:T p.(Asp85Asn) NC_000022.11:23752994:C:T p.(Asp85Asn) NC_000022.11:23752994:C:T Identity +NM_001130487.2:c.647C>T NP_001123959.1:p.Thr216Met NC_000016.10:58506588:C:T p.(Thr216Met) NC_000016.10:58506588:C:T p.(Thr216Met) NC_000016.10:58506588:C:T Identity +NM_005929.6:c.1619A>G NP_005920.2:p.Gln540Arg NC_000003.12:197008871:T:C p.(Gln540Arg) NC_000003.12:197008871:T:C p.(Gln540Arg) NC_000003.12:197008871:T:C Identity +NM_001129820.2:c.307C>A NP_001123292.1:p.His103Asn NC_000017.11:35557755:G:T p.(His103Asn) NC_000017.11:35557755:G:T p.(His103Asn) NC_000017.11:35557755:G:T Identity +NM_032313.4:c.585G>T NP_115689.1:p.Gln195His NC_000004.12:56977000:C:A p.(Gln195His) NC_000004.12:56977000:C:A p.(Gln195His) NC_000004.12:56977000:C:A Identity +NM_003718.5:c.1205T>C NP_003709.3:p.Val402Ala NC_000007.14:39951845:T:C p.(Val402Ala) NC_000007.14:39951845:T:C p.(Val402Ala) NC_000007.14:39951845:T:C Identity +NM_001330326.2:c.328G>A NP_001317255.1:p.Val110Ile NC_000015.10:55546954:C:T p.(Val110Ile) NC_000015.10:55546954:C:T p.(Val110Ile) NC_000015.10:55546954:C:T Identity +NM_001029884.3:c.2074C>T NP_001025055.1:p.Arg692Cys NC_000006.12:150831184:C:T p.(Arg692Cys) NC_000006.12:150831184:C:T p.(Arg692Cys) NC_000006.12:150831184:C:T Identity +NM_001411089.1:c.2707C>A NP_001398018.1:p.His903Asn NC_000015.10:43523465:C:A p.(His903Asn) NC_000015.10:43523465:C:A p.(His903Asn) NC_000015.10:43523465:C:A Identity +NM_001308160.2:c.5199G>A NP_001295089.1:p.Met1733Ile NC_000014.9:71089284:G:A p.(Met1733Ile) NC_000014.9:71089284:G:A p.(Met1733Ile) NC_000014.9:71089284:G:A Identity +NM_001136026.3:c.599A>G NP_001129498.1:p.Asn200Ser NC_000003.12:10305681:T:C p.(Asn200Ser) NC_000003.12:10305681:T:C p.(Asn200Ser) NC_000003.12:10305681:T:C Identity +NM_006810.4:c.1157C>T NP_006801.1:p.Pro386Leu NC_000003.12:123150247:C:T p.(Pro386Leu) NC_000003.12:123150247:C:T p.(Pro386Leu) NC_000003.12:123150247:C:T Identity +NM_020223.4:c.386T>G NP_064608.2:p.Leu129Arg NC_000007.14:193584:T:G p.(Leu129Arg) NC_000007.14:193584:T:G p.(Leu129Arg) NC_000007.14:193584:T:G Identity +NM_001126102.3:c.212A>G NP_001119574.1:p.Glu71Gly NC_000016.10:72059134:A:G p.(Glu71Gly) NC_000016.10:72059134:A:G p.(Glu71Gly) NC_000016.10:72059134:A:G Identity +NM_006901.4:c.296G>C NP_008832.2:p.Ser99Thr NC_000015.10:72046267:C:G p.(Ser99Thr) NC_000015.10:72046267:C:G p.(Ser99Thr) NC_000015.10:72046267:C:G Identity +NM_005116.6:c.277A>G NP_005107.4:p.Ile93Val NC_000020.11:4902488:T:C p.(Ile93Val) NC_000020.11:4902488:T:C p.(Ile93Val) NC_000020.11:4902488:T:C Identity +NM_001004703.1:c.844C>T NP_001004703.1:p.Pro282Ser NC_000011.10:54603154:G:A p.(Pro282Ser) NC_000011.10:54603154:G:A p.(Pro282Ser) NC_000011.10:54603154:G:A Identity +NM_001037806.4:c.442G>A NP_001032895.2:p.Gly148Arg NC_000012.12:49798372:C:T p.(Gly148Arg) NC_000012.12:49798372:C:T p.(Gly148Arg) NC_000012.12:49798372:C:T Identity +NM_005014.3:c.827T>C NP_005005.1:p.Ile276Thr NC_000009.12:92416731:A:G p.(Ile276Thr) NC_000009.12:92416731:A:G p.(Ile276Thr) NC_000009.12:92416731:A:G Identity +NM_001297774.2:c.902A>G NP_001284703.1:p.Tyr301Cys NC_000019.10:55174562:T:C p.(Tyr301Cys) NC_000019.10:55174562:T:C p.(Tyr301Cys) NC_000019.10:55174562:T:C Identity +NM_001374407.1:c.380G>T NP_001361336.1:p.Ser127Ile NC_000013.11:27623227:G:T p.(Ser127Ile) NC_000013.11:27623227:G:T p.(Ser127Ile) NC_000013.11:27623227:G:T Identity +NM_001324512.2:c.3226G>A NP_001311441.1:p.Glu1076Lys NC_000005.10:33576544:C:T p.(Glu1076Lys) NC_000005.10:33576544:C:T p.(Glu1076Lys) NC_000005.10:33576544:C:T Identity +NM_001416100.1:c.659C>T NP_001403029.1:p.Thr220Met NC_000019.10:42408317:G:A p.(Thr220Met) NC_000019.10:42408317:G:A p.(Thr220Met) NC_000019.10:42408317:G:A Identity +NM_032836.3:c.494G>C NP_116225.2:p.Gly165Ala NC_000019.10:55593446:C:G p.(Gly165Ala) NC_000019.10:55593446:C:G p.(Gly165Ala) NC_000019.10:55593446:C:G Identity +NM_001386421.1:c.260G>A NP_001373350.1:p.Gly87Glu NC_000003.12:45979732:C:T p.(Gly87Glu) NC_000003.12:45979732:C:T p.(Gly87Glu) NC_000003.12:45979732:C:T Identity +NM_001198934.2:c.3002A>G NP_001185863.1:p.His1001Arg NC_000006.12:43445285:A:G p.(His1001Arg) NC_000006.12:43445285:A:G p.(His1001Arg) NC_000006.12:43445285:A:G Identity +NM_001161661.2:c.2314C>T NP_001155133.1:p.Arg772Trp NC_000005.10:168441714:C:T p.(Arg772Trp) NC_000005.10:168441714:C:T p.(Arg772Trp) NC_000005.10:168441714:C:T Identity +NM_000354.6:c.457C>T NP_000345.2:p.Leu153Phe NC_000023.11:106036601:G:A p.(Leu153Phe) NC_000023.11:106036601:G:A p.(Leu153Phe) NC_000023.11:106036601:G:A Identity +NM_001077621.2:c.610G>A NP_001071089.1:p.Ala204Thr NC_000007.14:73671229:G:A p.(Ala204Thr) NC_000007.14:73671229:G:A p.(Ala204Thr) NC_000007.14:73671229:G:A Identity +NM_001172655.1:c.1579A>C NP_001166126.1:p.Thr527Pro NC_000019.10:52583439:A:C p.(Thr527Pro) NC_000019.10:52583439:A:C p.(Thr527Pro) NC_000019.10:52583439:A:C Identity +NM_001144763.2:c.1366T>C NP_001138235.1:p.Ser456Pro NC_000011.10:108513912:A:G p.(Ser456Pro) NC_000011.10:108513912:A:G p.(Ser456Pro) NC_000011.10:108513912:A:G Identity +NM_001134709.2:c.931C>G NP_001128181.1:p.Gln311Glu NC_000006.12:18236465:G:C p.(Gln311Glu) NC_000006.12:18236465:G:C p.(Gln311Glu) NC_000006.12:18236465:G:C Identity +NM_001079526.2:c.827A>G NP_001072994.1:p.Asn276Ser NC_000002.12:213008035:T:C p.(Asn276Ser) NC_000002.12:213008035:T:C p.(Asn276Ser) NC_000002.12:213008035:T:C Identity +NM_014755.3:c.457G>T NP_055570.1:p.Ala153Ser NC_000002.12:64636414:C:A p.(Ala153Ser) NC_000002.12:64636414:C:A p.(Ala153Ser) NC_000002.12:64636414:C:A Identity +NM_001378328.1:c.6559G>A NP_001365257.1:p.Val2187Ile NC_000022.11:46386581:C:T p.(Val2187Ile) NC_000022.11:46386581:C:T p.(Val2187Ile) NC_000022.11:46386581:C:T Identity +NM_007037.6:c.205G>T NP_008968.4:p.Ala69Ser NC_000011.10:130428081:C:A p.(Ala69Ser) NC_000011.10:130428081:C:A p.(Ala69Ser) NC_000011.10:130428081:C:A Identity +NM_001017975.6:c.1037G>A NP_001017975.5:p.Arg346His NC_000001.11:91379183:C:T p.(Arg346His) NC_000001.11:91379183:C:T p.(Arg346His) NC_000001.11:91379183:C:T Identity +NM_018714.3:c.1826A>C NP_061184.1:p.His609Pro NC_000017.11:73201652:A:C p.(His609Pro) NC_000017.11:73201652:A:C p.(His609Pro) NC_000017.11:73201652:A:C Identity +NM_052934.4:c.971C>T NP_443166.1:p.Ser324Leu NC_000001.11:205928031:G:A p.(Ser324Leu) NC_000001.11:205928031:G:A p.(Ser324Leu) NC_000001.11:205928031:G:A Identity +NM_020765.3:c.4201T>C NP_065816.2:p.Phe1401Leu NC_000001.11:19165665:A:G p.(Phe1401Leu) NC_000001.11:19165665:A:G p.(Phe1401Leu) NC_000001.11:19165665:A:G Identity +NM_001385060.1:c.3140C>T NP_001371989.1:p.Ser1047Phe NC_000003.12:151446840:G:A p.(Ser1047Phe) NC_000003.12:151446840:G:A p.(Ser1047Phe) NC_000003.12:151446840:G:A Identity +NM_004807.3:c.1201G>A NP_004798.3:p.Glu401Lys NC_000002.12:128268196:C:T p.(Glu401Lys) NC_000002.12:128268196:C:T p.(Glu401Lys) NC_000002.12:128268196:C:T Identity +NM_001199058.2:c.244G>A NP_001185987.1:p.Glu82Lys NC_000015.10:89908336:C:T p.(Glu82Lys) NC_000015.10:89908336:C:T p.(Glu82Lys) NC_000015.10:89908336:C:T Identity +NM_001100915.3:c.2678C>G NP_001094385.1:p.Pro893Arg NC_000016.10:67289671:G:C p.(Pro893Arg) NC_000016.10:67289671:G:C p.(Pro893Arg) NC_000016.10:67289671:G:C Identity +NM_021025.4:c.188T>C NP_066305.2:p.Phe63Ser NC_000005.10:171309552:T:C p.(Phe63Ser) NC_000005.10:171309552:T:C p.(Phe63Ser) NC_000005.10:171309552:T:C Identity +NM_002033.4:c.343T>C NP_002024.1:p.Trp115Arg NC_000011.10:94544475:T:C p.(Trp115Arg) NC_000011.10:94544475:T:C p.(Trp115Arg) NC_000011.10:94544475:T:C Identity +NM_001376857.1:c.1583C>T NP_001363786.1:p.Pro528Leu NC_000001.11:32195136:C:T p.(Pro528Leu) NC_000001.11:32195136:C:T p.(Pro528Leu) NC_000001.11:32195136:C:T Identity +NM_020664.4:c.23T>G NP_065715.1:p.Val8Gly NC_000016.10:401985:T:G p.(Val8Gly) NC_000016.10:401985:T:G p.(Val8Gly) NC_000016.10:401985:T:G Identity +NM_006770.4:c.1198G>A NP_006761.1:p.Gly400Arg NC_000002.12:118991865:G:A p.(Gly400Arg) NC_000002.12:118991865:G:A p.(Gly400Arg) NC_000002.12:118991865:G:A Identity +NM_006810.4:c.377T>C NP_006801.1:p.Val126Ala NC_000003.12:123102785:T:C p.(Val126Ala) NC_000003.12:123102785:T:C p.(Val126Ala) NC_000003.12:123102785:T:C Identity +NM_001411128.1:c.3062C>T NP_001398057.1:p.Pro1021Leu NC_000017.11:45245944:C:T p.(Pro1021Leu) NC_000017.11:45245944:C:T p.(Pro1021Leu) NC_000017.11:45245944:C:T Identity +NM_001018056.3:c.488G>A NP_001018066.1:p.Ser163Asn NC_000009.12:2643198:G:A p.(Ser163Asn) NC_000009.12:2643198:G:A p.(Ser163Asn) NC_000009.12:2643198:G:A Identity +NM_001317860.2:c.505T>G NP_001304789.1:p.Leu169Val NC_000015.10:41309815:A:C p.(Leu169Val) NC_000015.10:41309815:A:C p.(Leu169Val) NC_000015.10:41309815:A:C Identity +NM_001172679.2:c.1018A>G NP_001166150.1:p.Lys340Glu NC_000016.10:30555399:T:C p.(Lys340Glu) NC_000016.10:30555399:T:C p.(Lys340Glu) NC_000016.10:30555399:T:C Identity +NM_181536.2:c.2765T>C NP_853514.1:p.Met922Thr NC_000016.10:71954148:A:G p.(Met922Thr) NC_000016.10:71954148:A:G p.(Met922Thr) NC_000016.10:71954148:A:G Identity +NM_017575.5:c.1896G>C NP_060045.4:p.Glu632Asp NC_000017.11:2298006:C:G p.(Glu632Asp) NC_000017.11:2298006:C:G p.(Glu632Asp) NC_000017.11:2298006:C:G Identity +NM_001014445.2:c.182T>C NP_001014445.1:p.Leu61Ser NC_000017.11:35135404:A:G p.(Leu61Ser) NC_000017.11:35135404:A:G p.(Leu61Ser) NC_000017.11:35135404:A:G Identity +NM_003966.3:c.821C>T NP_003957.2:p.Ala274Val NC_000005.10:9202065:G:A p.(Ala274Val) NC_000005.10:9202065:G:A p.(Ala274Val) NC_000005.10:9202065:G:A Identity +NM_001363774.2:c.814A>G NP_001350703.1:p.Ile272Val NC_000019.10:12350563:T:C p.(Ile272Val) NC_000019.10:12350563:T:C p.(Ile272Val) NC_000019.10:12350563:T:C Identity +NM_001004466.2:c.384C>G NP_001004466.1:p.His128Gln NC_000019.10:15794431:C:G p.(His128Gln) NC_000019.10:15794431:C:G p.(His128Gln) NC_000019.10:15794431:C:G Identity +NM_001304808.3:c.2333C>T NP_001291737.1:p.Ala778Val NC_000022.11:49794059:G:A p.(Ala778Val) NC_000022.11:49794059:G:A p.(Ala778Val) NC_000022.11:49794059:G:A Identity +NM_001350929.2:c.8278G>C NP_001337858.1:p.Asp2760His NC_000014.9:104946872:C:G p.(Asp2760His) NC_000014.9:104946872:C:G p.(Asp2760His) NC_000014.9:104946872:C:G Identity +NM_173566.3:c.5606T>C NP_775837.2:p.Ile1869Thr NC_000022.11:31712232:A:G p.(Ile1869Thr) NC_000022.11:31712232:A:G p.(Ile1869Thr) NC_000022.11:31712232:A:G Identity +NM_015576.3:c.2396A>C NP_056391.1:p.His799Pro NC_000003.12:55950431:T:G p.(His799Pro) NC_000003.12:55950431:T:G p.(His799Pro) NC_000003.12:55950431:T:G Identity +NM_194251.3:c.1211C>G NP_919227.2:p.Pro404Arg NC_000005.10:146514902:G:C p.(Pro404Arg) NC_000005.10:146514902:G:C p.(Pro404Arg) NC_000005.10:146514902:G:C Identity +NM_000627.4:c.2321C>T NP_000618.4:p.Ser774Phe NC_000002.12:33300513:C:T p.(Ser774Phe) NC_000002.12:33300513:C:T p.(Ser774Phe) NC_000002.12:33300513:C:T Identity +NM_015204.3:c.80C>G NP_056019.1:p.Pro27Arg NC_000007.14:11831866:G:C p.(Pro27Arg) NC_000007.14:11831866:G:C p.(Pro27Arg) NC_000007.14:11831866:G:C Identity +NM_182958.4:c.1324G>A NP_892003.2:p.Ala442Thr NC_000016.10:31130911:G:A p.(Ala442Thr) NC_000016.10:31130911:G:A p.(Ala442Thr) NC_000016.10:31130911:G:A Identity +NM_001350162.2:c.5914A>G NP_001337091.1:p.Thr1972Ala NC_000008.11:30844252:T:C p.(Thr1972Ala) NC_000008.11:30844252:T:C p.(Thr1972Ala) NC_000008.11:30844252:T:C Identity +NM_152701.5:c.7555A>G NP_689914.3:p.Met2519Val NC_000007.14:48278748:A:G p.(Met2519Val) NC_000007.14:48278748:A:G p.(Met2519Val) NC_000007.14:48278748:A:G Identity +NM_001143970.2:c.679A>G NP_001137442.1:p.Thr227Ala NC_000006.12:4937690:A:G p.(Thr227Ala) NC_000006.12:4937690:A:G p.(Thr227Ala) NC_000006.12:4937690:A:G Identity +NM_006289.4:c.371A>G NP_006280.3:p.His124Arg NC_000009.12:35724711:T:C p.(His124Arg) NC_000009.12:35724711:T:C p.(His124Arg) NC_000009.12:35724711:T:C Identity +NM_001286554.2:c.544A>G NP_001273483.1:p.Lys182Glu NC_000006.12:41806439:T:C p.(Lys182Glu) NC_000006.12:41806439:T:C p.(Lys182Glu) NC_000006.12:41806439:T:C Identity +NM_001278524.2:c.633G>T NP_001265453.1:p.Lys211Asn NC_000010.11:96156954:G:T p.(Lys211Asn) NC_000010.11:96156954:G:T p.(Lys211Asn) NC_000010.11:96156954:G:T Identity +NM_001100118.2:c.659G>A NP_001093588.1:p.Arg220His NC_000014.9:103699478:C:T p.(Arg220His) NC_000014.9:103699478:C:T p.(Arg220His) NC_000014.9:103699478:C:T Identity +NM_001143996.2:c.29G>T NP_001137468.1:p.Arg10Leu NC_000010.11:49758563:C:A p.(Arg10Leu) NC_000010.11:49758563:C:A p.(Arg10Leu) NC_000010.11:49758563:C:A Identity +NM_004884.4:c.280G>A NP_004875.2:p.Gly94Arg NC_000015.10:65375225:C:T p.(Gly94Arg) NC_000015.10:65375225:C:T p.(Gly94Arg) NC_000015.10:65375225:C:T Identity +NM_001331078.2:c.661T>C NP_001318007.1:p.Trp221Arg NC_000003.12:113469188:A:G p.(Trp221Arg) NC_000003.12:113469188:A:G p.(Trp221Arg) NC_000003.12:113469188:A:G Identity +NM_001005271.3:c.5231G>A NP_001005271.2:p.Arg1744Gln NC_000017.11:7907920:G:A p.(Arg1744Gln) NC_000017.11:7907920:G:A p.(Arg1744Gln) NC_000017.11:7907920:G:A Identity +NM_198582.4:c.437G>T NP_940984.3:p.Gly146Val NC_000002.12:238141190:G:T p.(Gly146Val) NC_000002.12:238141190:G:T p.(Gly146Val) NC_000002.12:238141190:G:T Identity +NM_001304461.2:c.850G>A NP_001291390.1:p.Glu284Lys NC_000014.9:94496427:C:T p.(Glu284Lys) NC_000014.9:94496427:C:T p.(Glu284Lys) NC_000014.9:94496427:C:T Identity +NM_001100409.3:c.341A>G NP_001093879.1:p.Asn114Ser NC_000006.12:75633713:A:G p.(Asn114Ser) NC_000006.12:75633713:A:G p.(Asn114Ser) NC_000006.12:75633713:A:G Identity +NM_199069.2:c.92G>A NP_951032.1:p.Gly31Glu NC_000003.12:49022359:G:A p.(Gly31Glu) NC_000003.12:49022359:G:A p.(Gly31Glu) NC_000003.12:49022359:G:A Identity +NM_001281739.3:c.109C>G NP_001268668.1:p.Leu37Val NC_000018.10:36297943:C:G p.(Leu37Val) NC_000018.10:36297943:C:G p.(Leu37Val) NC_000018.10:36297943:C:G Identity +NM_001029862.1:c.1603G>A NP_001025033.1:p.Ala535Thr NC_000018.10:14784465:G:A ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found +NM_001297765.2:c.226G>A NP_001284694.1:p.Glu76Lys NC_000005.10:90405726:C:T p.(Glu76Lys) NC_000005.10:90405726:C:T p.(Glu76Lys) NC_000005.10:90405726:C:T Identity +NM_002152.3:c.164C>A NP_002143.1:p.Ala55Glu NC_000019.10:49155073:G:T p.(Ala55Glu) NC_000019.10:49155073:G:T p.(Ala55Glu) NC_000019.10:49155073:G:T Identity +NM_006686.4:c.421C>G NP_006677.1:p.Leu141Val NC_000009.12:108855509:G:C p.(Leu141Val) NC_000009.12:108855509:G:C p.(Leu141Val) NC_000009.12:108855509:G:C Identity +NM_001272004.3:c.1810G>A NP_001258933.1:p.Ala604Thr NC_000010.11:32273215:C:T p.(Ala604Thr) NC_000010.11:32273215:C:T p.(Ala604Thr) NC_000010.11:32273215:C:T Identity +NM_020950.2:c.493G>A NP_066001.1:p.Gly165Arg NC_000001.11:180916595:G:A p.(Gly165Arg) NC_000001.11:180916595:G:A p.(Gly165Arg) NC_000001.11:180916595:G:A Identity +NM_001317182.2:c.1357G>A NP_001304111.1:p.Asp453Asn NC_000012.12:95513892:G:A p.(Asp453Asn) NC_000012.12:95513892:G:A p.(Asp453Asn) NC_000012.12:95513892:G:A Identity +NM_006370.3:c.373C>A NP_006361.1:p.Leu125Ile NC_000014.9:67656582:G:T p.(Leu125Ile) NC_000014.9:67656582:G:T p.(Leu125Ile) NC_000014.9:67656582:G:T Identity +NM_001352275.2:c.962G>A NP_001339204.1:p.Arg321His NC_000016.10:671863:G:A p.(Arg321His) NC_000016.10:671863:G:A p.(Arg321His) NC_000016.10:671863:G:A Identity +NM_001352275.2:c.619G>A NP_001339204.1:p.Glu207Lys NC_000016.10:670752:G:A p.(Glu207Lys) NC_000016.10:670752:G:A p.(Glu207Lys) NC_000016.10:670752:G:A Identity +NM_001270383.2:c.77T>G NP_001257312.1:p.Val26Gly NC_000010.11:24995829:A:C p.(Val26Gly) NC_000010.11:24995829:A:C p.(Val26Gly) NC_000010.11:24995829:A:C Identity +NM_152458.7:c.995G>A NP_689671.2:p.Arg332His NC_000016.10:30582782:C:T p.(Arg332His) NC_000016.10:30582782:C:T p.(Arg332His) NC_000016.10:30582782:C:T Identity +NM_001145475.3:c.3734C>T NP_001138947.1:p.Pro1245Leu NC_000012.12:50353097:G:A p.(Pro1245Leu) NC_000012.12:50353097:G:A p.(Pro1245Leu) NC_000012.12:50353097:G:A Identity +NM_001039464.4:c.359G>T NP_001034553.3:p.Arg120Leu NC_000001.11:54653284:G:T p.(Arg120Leu) NC_000001.11:54653284:G:T p.(Arg120Leu) NC_000001.11:54653284:G:T Identity +NM_012083.3:c.400G>C NP_036215.1:p.Ala134Pro NC_000010.11:97334172:C:G p.(Ala134Pro) NC_000010.11:97334172:C:G p.(Ala134Pro) NC_000010.11:97334172:C:G Identity +NM_001405666.3:c.168G>C NP_001392595.1:p.Lys56Asn NC_000001.11:16591853:C:G p.(Lys56Asn) NC_000001.11:16591853:C:G p.(Lys56Asn) NC_000001.11:16591853:C:G Identity +NM_001363816.2:c.1418T>C NP_001350745.1:p.Val473Ala NC_000022.11:50504671:A:G p.(Val473Ala) NC_000022.11:50504671:A:G p.(Val473Ala) NC_000022.11:50504671:A:G Identity +NM_001085458.2:c.1774C>T NP_001078927.1:p.Arg592Trp NC_000011.10:57805932:C:T p.(Arg592Trp) NC_000011.10:57805932:C:T p.(Arg592Trp) NC_000011.10:57805932:C:T Identity +NM_018039.3:c.1118G>A NP_060509.2:p.Gly373Asp NC_000011.10:94998489:G:A p.(Gly373Asp) NC_000011.10:94998489:G:A p.(Gly373Asp) NC_000011.10:94998489:G:A Identity +NM_001185063.2:c.1210C>T NP_001171992.1:p.His404Tyr NC_000023.11:135287174:G:A p.(His404Tyr) NC_000023.11:135287174:G:A p.(His404Tyr) NC_000023.11:135287174:G:A Identity +NM_001356505.2:c.1005T>G NP_001343434.1:p.Asp335Glu NC_000001.11:177958968:A:C p.(Asp335Glu) NC_000001.11:177958968:A:C p.(Asp335Glu) NC_000001.11:177958968:A:C Identity +NM_002591.4:c.1664T>C NP_002582.3:p.Ile555Thr NC_000020.11:57565598:T:C p.(Ile555Thr) NC_000020.11:57565598:T:C p.(Ile555Thr) NC_000020.11:57565598:T:C Identity +NM_001287059.2:c.3407T>C NP_001273988.1:p.Val1136Ala NC_000007.14:43500769:T:C p.(Val1136Ala) NC_000007.14:43500769:T:C p.(Val1136Ala) NC_000007.14:43500769:T:C Identity +NM_003246.4:c.154C>T NP_003237.2:p.Pro52Ser NC_000015.10:39582278:C:T p.(Pro52Ser) NC_000015.10:39582278:C:T p.(Pro52Ser) NC_000015.10:39582278:C:T Identity +NM_001134381.2:c.1880T>A NP_001127853.1:p.Met627Lys NC_000003.12:17185146:A:T p.(Met627Lys) NC_000003.12:17185146:A:T p.(Met627Lys) NC_000003.12:17185146:A:T Identity +NM_001365923.2:c.973G>A NP_001352852.1:p.Val325Ile NC_000003.12:174278913:G:A p.(Val325Ile) NC_000003.12:174278913:G:A p.(Val325Ile) NC_000003.12:174278913:G:A Identity +NM_001006943.3:c.760C>G NP_001006944.1:p.Leu254Val NC_000001.11:22576816:C:G p.(Leu254Val) NC_000001.11:22576816:C:G p.(Leu254Val) NC_000001.11:22576816:C:G Identity +NM_001320444.1:c.946T>C NP_001307373.1:p.Phe316Leu NC_000017.11:7436924:T:C p.(Phe316Leu) NC_000017.11:7436924:T:C p.(Phe316Leu) NC_000017.11:7436924:T:C Identity +NM_001330653.3:c.1451C>T NP_001317582.1:p.Thr484Met NC_000009.12:35376109:C:T p.(Thr484Met) NC_000009.12:35376109:C:T p.(Thr484Met) NC_000009.12:35376109:C:T Identity +NM_001284377.2:c.149A>C NP_001271306.1:p.Lys50Thr NC_000015.10:75338652:A:C p.(Lys50Thr) NC_000015.10:75338652:A:C p.(Lys50Thr) NC_000015.10:75338652:A:C Identity +NM_001144894.2:c.503A>T NP_001138366.1:p.Gln168Leu NC_000019.10:7745630:T:A p.(Gln168Leu) NC_000019.10:7745630:T:A p.(Gln168Leu) NC_000019.10:7745630:T:A Identity +NM_014811.5:c.283G>A NP_055626.3:p.Ala95Thr NC_000009.12:135484792:G:A p.(Ala95Thr) NC_000009.12:135484792:G:A p.(Ala95Thr) NC_000009.12:135484792:G:A Identity +NM_001122841.3:c.266G>A NP_001116313.1:p.Arg89Lys NC_000006.12:168065048:C:T p.(Arg89Lys) NC_000006.12:168065048:C:T p.(Arg89Lys) NC_000006.12:168065048:C:T Identity +NM_001111018.2:c.1658C>T NP_001104488.1:p.Ala553Val NC_000011.10:19934093:C:T p.(Ala553Val) NC_000011.10:19934093:C:T p.(Ala553Val) NC_000011.10:19934093:C:T Identity +NM_018226.6:c.707G>A NP_060696.4:p.Arg236Gln NC_000002.12:240573146:G:A p.(Arg236Gln) NC_000002.12:240573146:G:A p.(Arg236Gln) NC_000002.12:240573146:G:A Identity +NM_015720.4:c.689C>T NP_056535.1:p.Ser230Leu NC_000003.12:127660716:C:T p.(Ser230Leu) NC_000003.12:127660716:C:T p.(Ser230Leu) NC_000003.12:127660716:C:T Identity +NM_001207033.1:c.1811G>A NP_001193962.1:p.Arg604Gln NC_000016.10:30768361:G:A p.(Arg604Gln) NC_000016.10:30768361:G:A p.(Arg604Gln) NC_000016.10:30768361:G:A Identity +NM_001042762.5:c.40T>C NP_001036227.1:p.Trp14Arg NC_000007.14:50447247:A:G p.(Trp14Arg) NC_000007.14:50447247:A:G p.(Trp14Arg) NC_000007.14:50447247:A:G Identity +NM_001286771.3:c.2053T>C NP_001273700.1:p.Tyr685His NC_000004.12:73140223:A:G p.(Tyr685His) NC_000004.12:73140223:A:G p.(Tyr685His) NC_000004.12:73140223:A:G Identity +NM_001163380.2:c.386T>C NP_001156852.1:p.Leu129Ser NC_000014.9:21462368:A:G p.(Leu129Ser) NC_000014.9:21462368:A:G p.(Leu129Ser) NC_000014.9:21462368:A:G Identity +NM_001301163.2:c.215C>G NP_001288092.1:p.Ser72Cys NC_000007.14:130202647:G:C p.(Ser72Cys) NC_000007.14:130202647:G:C p.(Ser72Cys) NC_000007.14:130202647:G:C Identity +NM_001104.4:c.1445A>G NP_001095.2:p.Glu482Gly NC_000011.10:66559984:A:G p.(Glu482Gly) NC_000011.10:66559984:A:G p.(Glu482Gly) NC_000011.10:66559984:A:G Identity +NM_007264.4:c.157C>T NP_009195.1:p.Arg53Cys NC_000012.12:56995365:C:T p.(Arg53Cys) NC_000012.12:56995365:C:T p.(Arg53Cys) NC_000012.12:56995365:C:T Identity +NM_001001669.3:c.1665T>A NP_001001669.2:p.His555Gln NC_000005.10:149628812:T:A p.(His555Gln) NC_000005.10:149628812:T:A p.(His555Gln) NC_000005.10:149628812:T:A Identity +NM_003872.3:c.554T>A NP_003863.2:p.Met185Lys NC_000002.12:205722597:T:A p.(Met185Lys) NC_000002.12:205722597:T:A p.(Met185Lys) NC_000002.12:205722597:T:A Identity +NM_001284341.2:c.877G>A NP_001271270.1:p.Gly293Ser NC_000007.14:32980377:G:A p.(Gly293Ser) NC_000007.14:32980377:G:A p.(Gly293Ser) NC_000007.14:32980377:G:A Identity +NM_018066.4:c.286C>T NP_060536.3:p.Arg96Cys NC_000001.11:26889810:G:A p.(Arg96Cys) NC_000001.11:26889810:G:A p.(Arg96Cys) NC_000001.11:26889810:G:A Identity +NM_170606.3:c.8950T>C NP_733751.2:p.Ser2984Pro NC_000007.14:152176502:A:G p.(Ser2984Pro) NC_000007.14:152176502:A:G p.(Ser2984Pro) NC_000007.14:152176502:A:G Identity +NM_001286509.2:c.69C>A NP_001273438.1:p.Pro23= NC_000006.12:44256809:G:T p.(Pro23=) NC_000006.12:44256809:G:T p.(Pro23=) NC_000006.12:44256809:G:T Identity +NM_001136538.2:c.290C>T NP_001130010.1:p.Thr97Ile NC_000012.12:111702263:C:T p.(Thr97Ile) NC_000012.12:111702263:C:T p.(Thr97Ile) NC_000012.12:111702263:C:T Identity +NM_001377334.1:c.4396G>A NP_001364263.1:p.Glu1466Lys NC_000001.11:204429922:C:T p.(Glu1466Lys) NC_000001.11:204429922:C:T p.(Glu1466Lys) NC_000001.11:204429922:C:T Identity +NM_001318146.1:c.1006C>G NP_001305075.1:p.Leu336Val NC_000015.10:75650107:C:G p.(Leu336Val) NC_000015.10:75650107:C:G p.(Leu336Val) NC_000015.10:75650107:C:G Identity +NM_001010891.5:c.578A>C NP_001010891.4:p.Asp193Ala NC_000005.10:79988241:T:G p.(Asp193Ala) NC_000005.10:79988241:T:G p.(Asp193Ala) NC_000005.10:79988241:T:G Identity +NM_006404.5:c.311G>C NP_006395.2:p.Arg104Pro NC_000020.11:35174941:G:C p.(Arg104Pro) NC_000020.11:35174941:G:C p.(Arg104Pro) NC_000020.11:35174941:G:C Identity +NM_004132.5:c.59C>T NP_004123.1:p.Thr20Ile NC_000010.11:113553179:C:T p.(Thr20Ile) NC_000010.11:113553179:C:T p.(Thr20Ile) NC_000010.11:113553179:C:T Identity +NM_000080.4:c.1105C>T NP_000071.1:p.Pro369Ser NC_000017.11:4899311:G:A p.(Pro369Ser) NC_000017.11:4899311:G:A p.(Pro369Ser) NC_000017.11:4899311:G:A Identity +NM_001410818.1:c.2080C>T NP_001397747.1:p.Arg694Trp NC_000022.11:37931825:C:T p.(Arg694Trp) NC_000022.11:37931825:C:T p.(Arg694Trp) NC_000022.11:37931825:C:T Identity +NM_001292054.2:c.331C>T NP_001278983.1:p.Leu111Phe NC_000004.12:26659641:C:T p.(Leu111Phe) NC_000004.12:26659641:C:T p.(Leu111Phe) NC_000004.12:26659641:C:T Identity +NM_001012239.1:c.247C>A NP_001012239.1:p.Arg83Ser NC_000008.11:11201092:G:T ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found +NM_001099220.3:c.1679A>G NP_001092690.1:p.Asn560Ser NC_000007.14:149860838:A:G p.(Asn560Ser) NC_000007.14:149860838:A:G p.(Asn560Ser) NC_000007.14:149860838:A:G Identity +NM_001144856.2:c.250G>A NP_001138328.1:p.Gly84Arg NC_000012.12:6313739:G:A p.(Gly84Arg) NC_000012.12:6313739:G:A p.(Gly84Arg) NC_000012.12:6313739:G:A Identity +NM_001127891.3:c.1499G>A NP_001121363.1:p.Arg500Gln NC_000016.10:55498327:G:A p.(Arg500Gln) NC_000016.10:55498327:G:A p.(Arg500Gln) NC_000016.10:55498327:G:A Identity +NM_001014811.2:c.962G>A NP_001014811.1:p.Arg321Gln NC_000011.10:86450355:C:T p.(Arg321Gln) NC_000011.10:86450355:C:T p.(Arg321Gln) NC_000011.10:86450355:C:T Identity +NM_001184996.2:c.1015G>A NP_001171925.1:p.Val339Met NC_000007.14:156676580:G:A p.(Val339Met) NC_000007.14:156676580:G:A p.(Val339Met) NC_000007.14:156676580:G:A Identity +NM_001270890.2:c.2365C>G NP_001257819.1:p.Pro789Ala NC_000009.12:19058296:G:C p.(Pro789Ala) NC_000009.12:19058296:G:C p.(Pro789Ala) NC_000009.12:19058296:G:C Identity +NM_020713.3:c.329C>T NP_065764.1:p.Ser110Leu NC_000020.11:63966939:G:A p.(Ser110Leu) NC_000020.11:63966939:G:A p.(Ser110Leu) NC_000020.11:63966939:G:A Identity +NM_020440.4:c.701T>C NP_065173.2:p.Val234Ala NC_000001.11:116944960:T:C p.(Val234Ala) NC_000001.11:116944960:T:C p.(Val234Ala) NC_000001.11:116944960:T:C Identity +NM_139055.4:c.2075C>G NP_620686.1:p.Pro692Arg NC_000011.10:130471379:C:G p.(Pro692Arg) NC_000011.10:130471379:C:G p.(Pro692Arg) NC_000011.10:130471379:C:G Identity +NM_001400004.1:c.796C>T NP_001386933.1:p.Pro266Ser NC_000004.12:75654011:G:A p.(Pro266Ser) NC_000004.12:75654011:G:A p.(Pro266Ser) NC_000004.12:75654011:G:A Identity +NM_001308173.3:c.523C>T NP_001295102.1:p.Arg175Cys NC_000005.10:160259528:G:A p.(Arg175Cys) NC_000005.10:160259528:G:A p.(Arg175Cys) NC_000005.10:160259528:G:A Identity +NM_005245.4:c.2654G>T NP_005236.2:p.Arg885Leu NC_000004.12:186707173:C:A p.(Arg885Leu) NC_000004.12:186707173:C:A p.(Arg885Leu) NC_000004.12:186707173:C:A Identity +NM_001015045.3:c.1382G>A NP_001015045.1:p.Ser461Asn NC_000004.12:88747652:C:T p.(Ser461Asn) NC_000004.12:88747652:C:T p.(Ser461Asn) NC_000004.12:88747652:C:T Identity +NM_001190811.2:c.455A>G NP_001177740.1:p.Asn152Ser NC_000003.12:16596852:T:C p.(Asn152Ser) NC_000003.12:16596852:T:C p.(Asn152Ser) NC_000003.12:16596852:T:C Identity +NM_001105251.4:c.4382C>T NP_001098721.2:p.Ala1461Val NC_000005.10:80474750:C:T p.(Ala1461Val) NC_000005.10:80474750:C:T p.(Ala1461Val) NC_000005.10:80474750:C:T Identity +NM_001289987.3:c.1166G>A NP_001276916.1:p.Arg389His NC_000006.12:75314674:C:T p.(Arg389His) NC_000006.12:75314674:C:T p.(Arg389His) NC_000006.12:75314674:C:T Identity +NM_001042479.2:c.230A>G NP_001035944.1:p.Tyr77Cys NC_000023.11:14020319:T:C p.(Tyr77Cys) NC_000023.11:14020319:T:C p.(Tyr77Cys) NC_000023.11:14020319:T:C Identity +NM_018917.4:c.1346A>G NP_061740.2:p.Tyr449Cys NC_000005.10:141356452:A:G p.(Tyr449Cys) NC_000005.10:141356452:A:G p.(Tyr449Cys) NC_000005.10:141356452:A:G Identity +NM_001135053.2:c.1105C>G NP_001128525.1:p.Pro369Ala NC_000011.10:406023:G:C p.(Pro369Ala) NC_000011.10:406023:G:C p.(Pro369Ala) NC_000011.10:406023:G:C Identity +NM_001363989.1:c.235A>G NP_001350918.1:p.Ile79Val NC_000005.10:150257599:T:C p.(Ile79Val) NC_000005.10:150257599:T:C p.(Ile79Val) NC_000005.10:150257599:T:C Identity +NM_001004714.2:c.469T>A NP_001004714.1:p.Ser157Thr NC_000014.9:20034289:A:T p.(Ser157Thr) NC_000014.9:20034289:A:T p.(Ser157Thr) NC_000014.9:20034289:A:T Identity +NM_001284297.2:c.1495A>G NP_001271226.1:p.Thr499Ala NC_000015.10:40296613:T:C p.(Thr499Ala) NC_000015.10:40296613:T:C p.(Thr499Ala) NC_000015.10:40296613:T:C Identity +NM_001104538.1:c.946G>A NP_001098008.1:p.Val316Met NC_000011.10:3664150:G:A ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found ERR:AlignmentMapper(tx_ac=NM_001104538.1, alt_ac=NM_001104538.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001104538.1, alt_ac=NM_001104538.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found +NM_001411089.1:c.2479G>T NP_001398018.1:p.Val827Leu NC_000015.10:43523237:G:T p.(Val827Leu) NC_000015.10:43523237:G:T p.(Val827Leu) NC_000015.10:43523237:G:T Identity +NM_001323599.2:c.1217G>A NP_001310528.1:p.Arg406Gln NC_000010.11:29529803:C:T p.(Arg406Gln) NC_000010.11:29529803:C:T p.(Arg406Gln) NC_000010.11:29529803:C:T Identity +NM_001093771.3:c.1732A>G NP_001087240.1:p.Asn578Asp NC_000012.12:104334317:A:G p.(Asn578Asp) NC_000012.12:104334317:A:G p.? NC_000012.12:104334317:A:G Identity +NM_001204450.2:c.1670A>C NP_001191379.1:p.Glu557Ala NC_000015.10:55360102:T:G p.(Glu557Ala) NC_000015.10:55360102:T:G p.(Glu557Ala) NC_000015.10:55360102:T:G Identity +NM_014878.5:c.1217C>T NP_055693.4:p.Ala406Val NC_000009.12:2820069:G:A p.(Ala406Val) NC_000009.12:2820069:G:A p.(Ala406Val) NC_000009.12:2820069:G:A Identity +NM_012334.3:c.3007G>A NP_036466.2:p.Ala1003Thr NC_000005.10:16701387:C:T p.(Ala1003Thr) NC_000005.10:16701387:C:T p.(Ala1003Thr) NC_000005.10:16701387:C:T Identity +NM_004608.4:c.1132C>T NP_004599.2:p.Arg378Cys NC_000016.10:30086403:G:A p.(Arg378Cys) NC_000016.10:30086403:G:A p.(Arg378Cys) NC_000016.10:30086403:G:A Identity +NM_000296.4:c.10267C>T NP_000287.4:p.Leu3423Phe NC_000016.10:2097453:G:A p.(Leu3423Phe) NC_000016.10:2097453:G:A p.(Leu3423Phe) NC_000016.10:2097453:G:A Identity +NM_001077706.3:c.1364A>G NP_001071174.1:p.Gln455Arg NC_000006.12:138865067:A:G p.(Gln455Arg) NC_000006.12:138865067:A:G p.(Gln455Arg) NC_000006.12:138865067:A:G Identity +NM_001004705.2:c.170C>T NP_001004705.1:p.Thr57Met NC_000011.10:59477598:C:T p.(Thr57Met) NC_000011.10:59477598:C:T p.(Thr57Met) NC_000011.10:59477598:C:T Identity +NM_014503.3:c.5216C>T NP_055318.2:p.Pro1739Leu NC_000012.12:101354939:C:T p.(Pro1739Leu) NC_000012.12:101354939:C:T p.(Pro1739Leu) NC_000012.12:101354939:C:T Identity +NM_001349608.2:c.2391G>C NP_001336537.1:p.Gln797His NC_000001.11:7665027:G:C p.(Gln797His) NC_000001.11:7665027:G:C p.(Gln797His) NC_000001.11:7665027:G:C Identity +NM_001330261.2:c.110C>T NP_001317190.1:p.Pro37Leu NC_000017.11:48051227:C:T p.(Pro37Leu) NC_000017.11:48051227:C:T p.(Pro37Leu) NC_000017.11:48051227:C:T Identity +NM_001394024.1:c.3620G>A NP_001380953.1:p.Arg1207His NC_000020.11:42102274:C:T p.(Arg1207His) NC_000020.11:42102274:C:T p.(Arg1207His) NC_000020.11:42102274:C:T Identity +NM_007167.4:c.3592T>G NP_009098.3:p.Phe1198Val NC_000001.11:34987489:A:C p.(Phe1198Val) NC_000001.11:34987489:A:C p.(Phe1198Val) NC_000001.11:34987489:A:C Identity +NM_001039706.3:c.2008A>G NP_001034795.2:p.Lys670Glu NC_000007.14:90300016:A:G p.(Lys670Glu) NC_000007.14:90300016:A:G p.(Lys670Glu) NC_000007.14:90300016:A:G Identity +NM_031955.6:c.1295G>A NP_114161.3:p.Arg432Gln NC_000003.12:172924250:C:T p.(Arg432Gln) NC_000003.12:172924250:C:T p.(Arg432Gln) NC_000003.12:172924250:C:T Identity +NM_017957.3:c.1154C>T NP_060427.2:p.Thr385Ile NC_000017.11:50540966:C:T p.(Thr385Ile) NC_000017.11:50540966:C:T p.(Thr385Ile) NC_000017.11:50540966:C:T Identity +NM_001001418.6:c.1154G>C NP_001001418.5:p.Gly385Ala NC_000017.11:38058503:C:G p.(Gly385Ala) NC_000017.11:38058503:C:G p.(Gly385Ala) NC_000017.11:38058503:C:G Identity +NM_001965.4:c.1174G>C NP_001956.4:p.Ala392Pro NC_000002.12:73291743:C:G p.(Ala392Pro) NC_000002.12:73291743:C:G p.(Ala392Pro) NC_000002.12:73291743:C:G Identity +NM_001411042.1:c.4540G>A NP_001397971.1:p.Glu1514Lys NC_000009.12:137013467:C:T p.(Glu1514Lys) NC_000009.12:137013467:C:T p.(Glu1514Lys) NC_000009.12:137013467:C:T Identity +NM_001161498.2:c.1313G>A NP_001154970.1:p.Arg438His NC_000014.9:69527893:G:A p.(Arg438His) NC_000014.9:69527893:G:A p.(Arg438His) NC_000014.9:69527893:G:A Identity +NM_020453.4:c.797G>A NP_065186.3:p.Arg266His NC_000004.12:47535528:G:A p.(Arg266His) NC_000004.12:47535528:G:A p.(Arg266His) NC_000004.12:47535528:G:A Identity +NM_133459.4:c.166A>G NP_597716.1:p.Lys56Glu NC_000018.10:59696674:T:C p.(Lys56Glu) NC_000018.10:59696674:T:C p.(Lys56Glu) NC_000018.10:59696674:T:C Identity +NM_014177.3:c.523C>T NP_054896.2:p.Arg175Trp NC_000018.10:74158073:C:T p.(Arg175Trp) NC_000018.10:74158073:C:T p.(Arg175Trp) NC_000018.10:74158073:C:T Identity +NM_001324159.2:c.710G>A NP_001311088.1:p.Arg237Gln NC_000016.10:67987873:C:T p.(Arg237Gln) NC_000016.10:67987873:C:T p.(Arg237Gln) NC_000016.10:67987873:C:T Identity +NM_001410991.1:c.4982G>A NP_001397920.1:p.Arg1661His NC_000009.12:115036225:C:T p.(Arg1661His) NC_000009.12:115036225:C:T p.(Arg1661His) NC_000009.12:115036225:C:T Identity +NM_033214.3:c.1469A>G NP_149991.2:p.Gln490Arg NC_000004.12:79406731:T:C p.(Gln490Arg) NC_000004.12:79406731:T:C p.(Gln490Arg) NC_000004.12:79406731:T:C Identity +NM_001143993.2:c.218G>A NP_001137465.1:p.Cys73Tyr NC_000011.10:562171:G:A p.(Cys73Tyr) NC_000011.10:562171:G:A p.(Cys73Tyr) NC_000011.10:562171:G:A Identity +NM_001318807.3:c.173A>G NP_001305736.1:p.Glu58Gly NC_000014.9:24307383:T:C p.(Glu58Gly) NC_000014.9:24307383:T:C p.(Glu58Gly) NC_000014.9:24307383:T:C Identity +NM_018216.4:c.472G>A NP_060686.3:p.Val158Met NC_000001.11:2520856:C:T p.(Val158Met) NC_000001.11:2520856:C:T p.(Val158Met) NC_000001.11:2520856:C:T Identity +NM_001142853.3:c.283G>A NP_001136325.1:p.Ala95Thr NC_000002.12:238239212:C:T p.(Ala95Thr) NC_000002.12:238239212:C:T p.(Ala95Thr) NC_000002.12:238239212:C:T Identity +NM_001145466.2:c.428G>A NP_001138938.1:p.Arg143Gln NC_000006.12:31589593:C:T p.(Arg143Gln) NC_000006.12:31589593:C:T p.(Arg143Gln) NC_000006.12:31589593:C:T Identity +NM_020879.3:c.472A>G NP_065930.2:p.Ile158Val NC_000007.14:77254527:A:G p.(Ile158Val) NC_000007.14:77254527:A:G p.(Ile158Val) NC_000007.14:77254527:A:G Identity +NM_015111.2:c.847A>T NP_055926.1:p.Thr283Ser NC_000005.10:178120693:A:T p.(Thr283Ser) NC_000005.10:178120693:A:T p.(Thr283Ser) NC_000005.10:178120693:A:T Identity +NM_001372045.1:c.350T>C NP_001358974.1:p.Leu117Pro NC_000011.10:114298145:T:C p.(Leu117Pro) NC_000011.10:114298145:T:C p.(Leu117Pro) NC_000011.10:114298145:T:C Identity +NM_012213.3:c.733A>G NP_036345.2:p.Thr245Ala NC_000016.10:83908216:A:G p.(Thr245Ala) NC_000016.10:83908216:A:G p.(Thr245Ala) NC_000016.10:83908216:A:G Identity +NM_001178088.2:c.3277C>G NP_001171559.1:p.Pro1093Ala NC_000006.12:158095860:C:G p.(Pro1093Ala) NC_000006.12:158095860:C:G p.(Pro1093Ala) NC_000006.12:158095860:C:G Identity +NM_032777.10:c.448G>A NP_116166.9:p.Glu150Lys NC_000008.11:37829297:G:A p.(Glu150Lys) NC_000008.11:37829297:G:A p.(Glu150Lys) NC_000008.11:37829297:G:A Identity +NM_001346738.2:c.198G>C NP_001333667.1:p.Gln66His NC_000001.11:235160922:C:G p.(Gln66His) NC_000001.11:235160922:C:G p.(Gln66His) NC_000001.11:235160922:C:G Identity +NM_001040105.2:c.2879A>G NP_001035194.1:p.Glu960Gly NC_000007.14:101034294:A:G p.(Glu960Gly) NC_000007.14:101034294:A:G p.(Glu960Gly) NC_000007.14:101034294:A:G Identity +NM_002848.4:c.2299C>G NP_002839.1:p.Leu767Val NC_000012.12:15546702:C:G p.(Leu767Val) NC_000012.12:15546702:C:G p.(Leu767Val) NC_000012.12:15546702:C:G Identity +NM_001378205.1:c.5386C>T NP_001365134.1:p.Pro1796Ser NC_000018.10:8825938:C:T p.(Pro1796Ser) NC_000018.10:8825938:C:T p.(Pro1796Ser) NC_000018.10:8825938:C:T Identity +NM_001270949.2:c.415G>T NP_001257878.1:p.Ala139Ser NC_000018.10:62354521:G:T p.(Ala139Ser) NC_000018.10:62354521:G:T p.(Ala139Ser) NC_000018.10:62354521:G:T Identity +NM_002458.3:c.2665C>T NP_002449.2:p.Arg889Trp NC_000011.10:1235118:C:T p.(Arg889Trp) NC_000011.10:1235118:C:T p.(Arg889Trp) NC_000011.10:1235118:C:T Identity +NM_001282607.2:c.1019A>G NP_001269536.1:p.His340Arg NC_000023.11:131085686:A:G p.(His340Arg) NC_000023.11:131085686:A:G p.(His340Arg) NC_000023.11:131085686:A:G Identity +NM_001324029.3:c.1298G>A NP_001310958.1:p.Gly433Glu NC_000015.10:90227579:G:A p.(Gly433Glu) NC_000015.10:90227579:G:A p.(Gly433Glu) NC_000015.10:90227579:G:A Identity +NM_004979.6:c.343G>A NP_004970.3:p.Asp115Asn NC_000023.11:48969928:C:T p.(Asp115Asn) NC_000023.11:48969928:C:T p.(Asp115Asn) NC_000023.11:48969928:C:T Identity +NM_001105515.3:c.1057G>A NP_001098985.1:p.Val353Met NC_000013.11:95206635:C:T p.(Val353Met) NC_000013.11:95206635:C:T p.(Val353Met) NC_000013.11:95206635:C:T Identity +NM_006672.3:c.1469C>T NP_006663.2:p.Ser490Leu NC_000006.12:43304126:C:T p.(Ser490Leu) NC_000006.12:43304126:C:T p.(Ser490Leu) NC_000006.12:43304126:C:T Identity +NM_001212.4:c.152G>A NP_001203.1:p.Gly51Asp NC_000017.11:5438921:C:T p.(Gly51Asp) NC_000017.11:5438921:C:T p.(Gly51Asp) NC_000017.11:5438921:C:T Identity +NM_001099270.4:c.1094C>G NP_001092740.2:p.Ala365Gly NC_000009.12:126880492:C:G p.(Ala365Gly) NC_000009.12:126880492:C:G p.(Ala365Gly) NC_000009.12:126880492:C:G Identity +NM_003665.4:c.779G>C NP_003656.2:p.Arg260Pro NC_000001.11:27369356:C:G p.(Arg260Pro) NC_000001.11:27369356:C:G p.(Arg260Pro) NC_000001.11:27369356:C:G Identity +NM_001098816.3:c.422G>A NP_001092286.2:p.Ser141Asn NC_000011.10:79064808:C:T p.(Ser141Asn) NC_000011.10:79064808:C:T p.(Ser141Asn) NC_000011.10:79064808:C:T Identity +NM_001290321.3:c.8885A>G NP_001277250.1:p.Glu2962Gly NC_000005.10:119244538:A:G p.(Glu2962Gly) NC_000005.10:119244538:A:G p.(Glu2962Gly) NC_000005.10:119244538:A:G Identity +NM_001142644.2:c.3604A>G NP_001136116.1:p.Ile1202Val NC_000002.12:228017249:T:C p.(Ile1202Val) NC_000002.12:228017249:T:C p.(Ile1202Val) NC_000002.12:228017249:T:C Identity +NM_206996.4:c.1749C>G NP_996879.1:p.His583Gln NC_000001.11:118085934:G:C p.(His583Gln) NC_000001.11:118085934:G:C p.(His583Gln) NC_000001.11:118085934:G:C Identity +NM_001031617.3:c.13A>G NP_001026788.1:p.Met5Val NC_000007.14:975496:T:C p.(Met5Val) NC_000007.14:975496:T:C p.(Met5Val) NC_000007.14:975496:T:C Identity +NM_003890.3:c.14431C>T NP_003881.2:p.Pro4811Ser NC_000019.10:39873570:G:A ERR:Validation error: Coordinate out of bounds: index 14446 is beyond transcript length 12834 ERR:Validation error: Transcript position out of exon bounds ERR:c.14431 coordinate is out of bounds ERR:c.14431 coordinate is out of bounds Unknown +NM_001005161.3:c.803G>A NP_001005161.2:p.Arg268His NC_000011.10:4367492:C:T p.(Arg268His) NC_000011.10:4367492:C:T p.(Arg268His) NC_000011.10:4367492:C:T Identity +NM_153252.5:c.2479G>T NP_694984.5:p.Asp827Tyr NC_000023.11:80707499:C:A p.(Asp827Tyr) NC_000023.11:80707499:C:A p.(Asp827Tyr) NC_000023.11:80707499:C:A Identity +NM_001351369.2:c.575A>G NP_001338298.1:p.Gln192Arg NC_000003.12:183724455:A:G p.(Gln192Arg) NC_000003.12:183724455:A:G p.(Gln192Arg) NC_000003.12:183724455:A:G Identity +NM_000718.4:c.1691C>T NP_000709.1:p.Ala564Val NC_000009.12:137984171:C:T p.(Ala564Val) NC_000009.12:137984171:C:T p.(Ala564Val) NC_000009.12:137984171:C:T Identity +NM_001256613.2:c.358C>G NP_001243542.1:p.Leu120Val NC_000003.12:184104259:C:G p.(Leu120Val) NC_000003.12:184104259:C:G p.(Leu120Val) NC_000003.12:184104259:C:G Identity +NM_001253837.2:c.16C>T NP_001240766.1:p.Arg6Trp NC_000010.11:100329924:G:A p.(Arg6Trp) NC_000010.11:100329924:G:A p.(Arg6Trp) NC_000010.11:100329924:G:A Identity +NM_001146695.4:c.127C>T NP_001140167.1:p.Arg43Cys NC_000009.12:6793114:C:T p.(Arg43Cys) NC_000009.12:6793114:C:T p.(Arg43Cys) NC_000009.12:6793114:C:T Identity +NM_001330762.2:c.1342C>G NP_001317691.1:p.Gln448Glu NC_000009.12:121144028:C:G p.(Gln448Glu) NC_000009.12:121144028:C:G p.(Gln448Glu) NC_000009.12:121144028:C:G Identity +NM_001291866.2:c.116G>A NP_001278795.1:p.Arg39Gln NC_000001.11:230203145:G:A p.(Arg39Gln) NC_000001.11:230203145:G:A p.(Arg39Gln) NC_000001.11:230203145:G:A Identity +NM_000937.5:c.808G>A NP_000928.1:p.Ala270Thr NC_000017.11:7497033:G:A p.(Ala270Thr) NC_000017.11:7497033:G:A p.(Ala270Thr) NC_000017.11:7497033:G:A Identity +NM_153487.4:c.667G>A NP_705691.1:p.Gly223Ser NC_000006.12:37654844:C:T p.(Gly223Ser) NC_000006.12:37654844:C:T p.(Gly223Ser) NC_000006.12:37654844:C:T Identity +NM_001301175.2:c.248A>C NP_001288104.1:p.Gln83Pro NC_000012.12:109058072:A:C p.(Gln83Pro) NC_000012.12:109058072:A:C p.(Gln83Pro) NC_000012.12:109058072:A:C Identity +NM_002427.4:c.343A>G NP_002418.1:p.Lys115Glu NC_000011.10:102955270:T:C p.(Lys115Glu) NC_000011.10:102955270:T:C p.(Lys115Glu) NC_000011.10:102955270:T:C Identity +NM_001042683.3:c.1925A>T NP_001036148.2:p.Asp642Val NC_000006.12:145943455:T:A p.(Asp642Val) NC_000006.12:145943455:T:A p.(Asp642Val) NC_000006.12:145943455:T:A Identity +NM_000482.4:c.820G>T NP_000473.2:p.Val274Leu NC_000011.10:116821237:C:A p.(Val274Leu) NC_000011.10:116821237:C:A p.(Val274Leu) NC_000011.10:116821237:C:A Identity +NM_001164771.2:c.40A>G NP_001158243.1:p.Ile14Val NC_000008.11:17538863:A:G p.(Ile14Val) NC_000008.11:17538863:A:G p.(Ile14Val) NC_000008.11:17538863:A:G Identity +NM_001203263.2:c.175C>G NP_001190192.2:p.Pro59Ala NC_000003.12:9917969:C:G p.(Pro59Ala) NC_000003.12:9917969:C:G p.(Pro59Ala) NC_000003.12:9917969:C:G Identity +NM_001281956.2:c.398G>A NP_001268885.1:p.Arg133His NC_000001.11:34088982:C:T p.(Arg133His) NC_000001.11:34088982:C:T p.(Arg133His) NC_000001.11:34088982:C:T Identity +NM_173689.7:c.1721C>T NP_775960.4:p.Ala574Val NC_000009.12:123370773:C:T p.(Ala574Val) NC_000009.12:123370773:C:T p.(Ala574Val) NC_000009.12:123370773:C:T Identity +NM_025225.3:c.124A>G NP_079501.2:p.Met42Val NC_000022.11:43924034:A:G p.(Met42Val) NC_000022.11:43924034:A:G p.(Met42Val) NC_000022.11:43924034:A:G Identity +NM_001370212.1:c.244G>A NP_001357141.1:p.Val82Ile NC_000001.11:33276488:G:A p.(Val82Ile) NC_000001.11:33276488:G:A p.(Val82Ile) NC_000001.11:33276488:G:A Identity +NM_001080462.3:c.640T>A NP_001073931.1:p.Tyr214Asn NC_000015.10:72407710:T:A p.(Tyr214Asn) NC_000015.10:72407710:T:A p.(Tyr214Asn) NC_000015.10:72407710:T:A Identity +NM_003255.5:c.518T>C NP_003246.1:p.Leu173Pro NC_000017.11:78855811:A:G p.(Leu173Pro) NC_000017.11:78855811:A:G p.(Leu173Pro) NC_000017.11:78855811:A:G Identity +NM_001256430.3:c.2140T>G NP_001243359.1:p.Ser714Ala NC_000014.9:81277170:A:C p.(Ser714Ala) NC_000014.9:81277170:A:C p.(Ser714Ala) NC_000014.9:81277170:A:C Identity +NM_013309.6:c.719G>T NP_037441.2:p.Gly240Val NC_000015.10:45489015:C:A p.(Gly240Val) NC_000015.10:45489015:C:A p.(Gly240Val) NC_000015.10:45489015:C:A Identity +NM_001057.3:c.194G>A NP_001048.2:p.Arg65His NC_000010.11:69416129:C:T p.(Arg65His) NC_000010.11:69416129:C:T p.(Arg65His) NC_000010.11:69416129:C:T Identity +NM_001077657.3:c.77A>C NP_001071125.1:p.Glu26Ala NC_000003.12:196509642:T:G p.(Glu26Ala) NC_000003.12:196509642:T:G p.(Glu26Ala) NC_000003.12:196509642:T:G Identity +NM_018685.5:c.1609G>A NP_061155.2:p.Asp537Asn NC_000007.14:36417165:G:A p.(Asp537Asn) NC_000007.14:36417165:G:A p.(Asp537Asn) NC_000007.14:36417165:G:A Identity +NM_001321532.2:c.652A>C NP_001308461.1:p.Asn218His NC_000013.11:30647013:A:C p.(Asn218His) NC_000013.11:30647013:A:C p.(Asn218His) NC_000013.11:30647013:A:C Identity +NM_138694.4:c.7642G>A NP_619639.3:p.Ala2548Thr NC_000006.12:51867953:C:T p.(Ala2548Thr) NC_000006.12:51867953:C:T p.(Ala2548Thr) NC_000006.12:51867953:C:T Identity +NM_001350933.2:c.1857A>C NP_001337862.1:p.Gln619His NC_000010.11:73291927:T:G p.(Gln619His) NC_000010.11:73291927:T:G p.(Gln619His) NC_000010.11:73291927:T:G Identity +NM_001166139.2:c.571A>G NP_001159611.1:p.Ile191Val NC_000004.12:17909204:T:C p.(Ile191Val) NC_000004.12:17909204:T:C p.(Ile191Val) NC_000004.12:17909204:T:C Identity +NM_001372081.1:c.734T>C NP_001359010.1:p.Leu245Pro NC_000006.12:44370088:T:C p.(Leu245Pro) NC_000006.12:44370088:T:C p.(Leu245Pro) NC_000006.12:44370088:T:C Identity +NM_001367485.1:c.938G>A NP_001354414.1:p.Arg313His NC_000011.10:65044587:G:A p.(Arg313His) NC_000011.10:65044587:G:A p.(Arg313His) NC_000011.10:65044587:G:A Identity +NM_001077239.2:c.1385G>A NP_001070707.1:p.Arg462Gln NC_000011.10:117281942:G:A p.(Arg462Gln) NC_000011.10:117281942:G:A p.(Arg462Gln) NC_000011.10:117281942:G:A Identity +NM_001448.3:c.275A>G NP_001439.2:p.Asn92Ser NC_000023.11:133339226:T:C p.(Asn92Ser) NC_000023.11:133339226:T:C p.(Asn92Ser) NC_000023.11:133339226:T:C Identity +NM_001384818.1:c.2273C>T NP_001371747.1:p.Pro758Leu NC_000009.12:131473672:C:T p.(Pro758Leu) NC_000009.12:131473672:C:T p.(Pro758Leu) NC_000009.12:131473672:C:T Identity +NM_213596.3:c.1390G>A NP_998761.2:p.Gly464Ser NC_000012.12:109279834:C:T p.(Gly464Ser) NC_000012.12:109279834:C:T p.(Gly464Ser) NC_000012.12:109279834:C:T Identity +NM_001288803.1:c.77T>G NP_001275732.1:p.Val26Gly NC_000009.12:127803000:T:G p.(Val26Gly) NC_000009.12:127803000:T:G p.(Val26Gly) NC_000009.12:127803000:T:G Identity +NM_139209.3:c.1052C>A NP_631948.1:p.Ala351Asp NC_000003.12:141807645:C:A p.(Ala351Asp) NC_000003.12:141807645:C:A p.(Ala351Asp) NC_000003.12:141807645:C:A Identity +NM_001171906.2:c.610C>T NP_001165377.1:p.His204Tyr NC_000003.12:131382516:C:T p.(His204Tyr) NC_000003.12:131382516:C:T p.(His204Tyr) NC_000003.12:131382516:C:T Identity +NM_001353009.2:c.419A>G NP_001339938.1:p.Tyr140Cys NC_000015.10:76804607:T:C p.(Tyr140Cys) NC_000015.10:76804607:T:C p.(Tyr140Cys) NC_000015.10:76804607:T:C Identity +NM_001405963.1:c.262C>T NP_001392892.1:p.Pro88Ser NC_000014.9:19747664:C:T p.(Pro88Ser) NC_000014.9:19747664:C:T p.(Pro88Ser) NC_000014.9:19747664:C:T Identity +NM_003105.6:c.68C>T NP_003096.2:p.Pro23Leu NC_000011.10:121452398:C:T p.(Pro23Leu) NC_000011.10:121452398:C:T p.(Pro23Leu) NC_000011.10:121452398:C:T Identity +NM_000820.4:c.1792G>A NP_000811.1:p.Glu598Lys NC_000013.11:113822047:C:T p.(Glu598Lys) NC_000013.11:113822047:C:T p.(Glu598Lys) NC_000013.11:113822047:C:T Identity +NM_001128916.2:c.437C>T NP_001122388.1:p.Ala146Val NC_000019.10:44893780:C:T p.(Ala146Val) NC_000019.10:44893780:C:T p.(Ala146Val) NC_000019.10:44893780:C:T Identity +NM_001080434.2:c.4127C>G NP_001073903.2:p.Pro1376Arg NC_000019.10:48491504:G:C p.(Pro1376Arg) NC_000019.10:48491504:G:C p.(Pro1376Arg) NC_000019.10:48491504:G:C Identity +NM_016044.3:c.108C>G NP_057128.2:p.His36Gln NC_000002.12:95405665:C:G p.(His36Gln) NC_000002.12:95405665:C:G p.(His36Gln) NC_000002.12:95405665:C:G Identity +NM_001330762.2:c.1526T>C NP_001317691.1:p.Met509Thr NC_000009.12:121145256:T:C p.(Met509Thr) NC_000009.12:121145256:T:C p.(Met509Thr) NC_000009.12:121145256:T:C Identity +NM_153221.2:c.3389G>A NP_694953.2:p.Arg1130His NC_000019.10:19545933:G:A p.(Arg1130His) NC_000019.10:19545933:G:A p.(Arg1130His) NC_000019.10:19545933:G:A Identity +NM_001270695.1:c.1205T>C NP_001257624.1:p.Ile402Thr NC_000010.11:31843551:A:G p.(Ile402Thr) NC_000010.11:31843551:A:G p.(Ile402Thr) NC_000010.11:31843551:A:G Identity +NM_198353.3:c.164A>C NP_938167.1:p.Tyr55Ser NC_000004.12:44448359:T:G p.(Tyr55Ser) NC_000004.12:44448359:T:G p.(Tyr55Ser) NC_000004.12:44448359:T:G Identity +NM_001322286.2:c.38C>T NP_001309215.1:p.Thr13Ile NC_000018.10:35374254:G:A p.(Thr13Ile) NC_000018.10:35374254:G:A p.(Thr13Ile) NC_000018.10:35374254:G:A Identity +NM_004502.4:c.286C>T NP_004493.3:p.Leu96Phe NC_000017.11:48610632:G:A p.(Leu96Phe) NC_000017.11:48610632:G:A p.(Leu96Phe) NC_000017.11:48610632:G:A Identity +NM_001142761.1:c.257T>A NP_001136233.1:p.Val86Glu NC_000015.10:40383274:T:A p.(Val86Glu) NC_000015.10:40383274:T:A p.(Val86Glu) NC_000015.10:40383274:T:A Identity +NM_001386671.1:c.635C>T NP_001373600.1:p.Thr212Ile NC_000011.10:75961484:C:T p.(Thr212Ile) NC_000011.10:75961484:C:T p.(Thr212Ile) NC_000011.10:75961484:C:T Identity +NM_001206557.2:c.4007G>A NP_001193486.1:p.Arg1336Gln NC_000009.12:5774091:G:A p.(Arg1336Gln) NC_000009.12:5774091:G:A p.(Arg1336Gln) NC_000009.12:5774091:G:A Identity +NM_002240.5:c.1177G>T NP_002231.1:p.Ala393Ser NC_000021.9:37625253:C:A p.(Ala393Ser) NC_000021.9:37625253:C:A p.(Ala393Ser) NC_000021.9:37625253:C:A Identity +NM_016941.4:c.431C>T NP_058637.1:p.Ala144Val NC_000019.10:39502835:C:T p.(Ala144Val) NC_000019.10:39502835:C:T p.(Ala144Val) NC_000019.10:39502835:C:T Identity +NM_001013653.3:c.74G>C NP_001013675.1:p.Trp25Ser NC_000009.12:137169869:C:G p.(Trp25Ser) NC_000009.12:137169869:C:G p.(Trp25Ser) NC_000009.12:137169869:C:G Identity +NM_005451.5:c.74A>G NP_005442.2:p.Asn25Ser NC_000005.10:177496438:T:C p.(Asn25Ser) NC_000005.10:177496438:T:C p.(Asn25Ser) NC_000005.10:177496438:T:C Identity +NM_001363711.2:c.376G>T NP_001350640.1:p.Ala126Ser NC_000015.10:45111904:C:A p.(Ala126Ser) NC_000015.10:45111904:C:A p.(Ala126Ser) NC_000015.10:45111904:C:A Identity +NM_001388022.1:c.1421C>T NP_001374951.1:p.Ser474Leu NC_000011.10:8640953:G:A p.(Ser474Leu) NC_000011.10:8640953:G:A p.(Ser474Leu) NC_000011.10:8640953:G:A Identity +NM_007038.5:c.2428G>A NP_008969.2:p.Gly810Ser NC_000021.9:26924417:C:T p.(Gly810Ser) NC_000021.9:26924417:C:T p.(Gly810Ser) NC_000021.9:26924417:C:T Identity +NM_001145678.3:c.1627C>T NP_001139150.1:p.Pro543Ser NC_000005.10:94471559:G:A p.(Pro543Ser) NC_000005.10:94471559:G:A p.(Pro543Ser) NC_000005.10:94471559:G:A Identity +NM_001198542.1:c.1399G>A NP_001185471.1:p.Asp467Asn NC_000016.10:71115704:C:T p.(Asp467Asn) NC_000016.10:71115704:C:T p.(Asp467Asn) NC_000016.10:71115704:C:T Identity +NM_001162914.1:c.1280A>G NP_001156386.1:p.Asn427Ser NC_000008.11:143706733:T:C p.(Asn427Ser) NC_000008.11:143706733:T:C p.(Asn427Ser) NC_000008.11:143706733:T:C Identity +NM_005125.2:c.778G>A NP_005116.1:p.Ala260Thr NC_000011.10:66605807:G:A p.(Ala260Thr) NC_000011.10:66605807:G:A p.(Ala260Thr) NC_000011.10:66605807:G:A Identity +NM_033467.4:c.1978T>C NP_258428.2:p.Trp660Arg NC_000001.11:2592855:A:G p.(Trp660Arg) NC_000001.11:2592855:A:G p.(Trp660Arg) NC_000001.11:2592855:A:G Identity +NM_001286379.2:c.1723G>A NP_001273308.1:p.Glu575Lys NC_000006.12:170319076:G:A p.(Glu575Lys) NC_000006.12:170319076:G:A p.(Glu575Lys) NC_000006.12:170319076:G:A Identity +NM_002593.4:c.17C>G NP_002584.2:p.Thr6Arg NC_000007.14:100602472:C:G p.(Thr6Arg) NC_000007.14:100602472:C:G p.(Thr6Arg) NC_000007.14:100602472:C:G Identity +NM_017554.3:c.2830A>T NP_060024.2:p.Asn944Tyr NC_000003.12:122701383:A:T p.(Asn944Tyr) NC_000003.12:122701383:A:T p.(Asn944Tyr) NC_000003.12:122701383:A:T Identity +NM_001194.4:c.2330C>G NP_001185.3:p.Pro777Arg NC_000019.10:616133:C:G p.(Pro777Arg) NC_000019.10:616133:C:G p.(Pro777Arg) NC_000019.10:616133:C:G Identity +NM_001386136.1:c.814G>A NP_001373065.1:p.Ala272Thr NC_000002.12:74253079:C:T p.(Ala272Thr) NC_000002.12:74253079:C:T p.(Ala272Thr) NC_000002.12:74253079:C:T Identity +NM_017525.3:c.1927C>T NP_059995.2:p.Arg643Trp NC_000011.10:64835372:G:A p.(Arg643Trp) NC_000011.10:64835372:G:A p.(Arg643Trp) NC_000011.10:64835372:G:A Identity +NM_153610.5:c.7885G>A NP_705838.3:p.Val2629Met NC_000005.10:79736649:G:A p.(Val2629Met) NC_000005.10:79736649:G:A p.(Val2629Met) NC_000005.10:79736649:G:A Identity +NM_001145260.2:c.1331A>G NP_001138732.1:p.Tyr444Cys NC_000010.11:46010637:T:C p.(Tyr444Cys) NC_000010.11:46010637:T:C p.(Tyr444Cys) NC_000010.11:46010637:T:C Identity +NM_001001891.3:c.803A>T NP_001001891.2:p.Tyr268Phe NC_000002.12:241202221:A:T ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found +NM_001161342.3:c.257G>T NP_001154814.1:p.Arg86Leu NC_000005.10:73123629:G:T p.(Arg86Leu) NC_000005.10:73123629:G:T p.(Arg86Leu) NC_000005.10:73123629:G:T Identity +NM_002458.3:c.10763C>T NP_002449.2:p.Pro3588Leu NC_000011.10:1247642:C:T p.(Pro3588Leu) NC_000011.10:1247642:C:T p.(Pro3588Leu) NC_000011.10:1247642:C:T Identity +NM_001193537.3:c.121T>G NP_001180466.1:p.Phe41Val NC_000011.10:85631785:T:G p.(Phe41Val) NC_000011.10:85631785:T:G p.(Phe41Val) NC_000011.10:85631785:T:G Identity +NM_000873.4:c.788G>A NP_000864.2:p.Arg263Gln NC_000017.11:64002786:C:T p.(Arg263Gln) NC_000017.11:64002786:C:T p.(Arg263Gln) NC_000017.11:64002786:C:T Identity +NM_021035.3:c.5350A>T NP_066363.1:p.Ile1784Leu NC_000020.11:49247673:T:A p.(Ile1784Leu) NC_000020.11:49247673:T:A p.(Ile1784Leu) NC_000020.11:49247673:T:A Identity +NM_005049.3:c.2365G>A NP_005040.2:p.Val789Met NC_000021.9:44128251:G:A p.(Val789Met) NC_000021.9:44128251:G:A p.(Val789Met) NC_000021.9:44128251:G:A Identity +NM_001001959.1:c.331G>A NP_001001959.1:p.Glu111Lys NC_000001.11:247841565:C:T p.(Glu111Lys) NC_000001.11:247841565:C:T p.(Glu111Lys) NC_000001.11:247841565:C:T Identity +NM_024490.4:c.4079C>T NP_077816.1:p.Pro1360Leu NC_000015.10:25679761:G:A p.(Pro1360Leu) NC_000015.10:25679761:G:A p.(Pro1360Leu) NC_000015.10:25679761:G:A Identity +NM_001198542.1:c.2050A>G NP_001185471.1:p.Ile684Val NC_000016.10:71069271:T:C p.(Ile684Val) NC_000016.10:71069271:T:C p.(Ile684Val) NC_000016.10:71069271:T:C Identity +NM_001288962.2:c.657G>A NP_001275891.1:p.Met219Ile NC_000019.10:6744567:G:A p.(Met219Ile) NC_000019.10:6744567:G:A p.(Met219Ile) NC_000019.10:6744567:G:A Identity +NM_001164470.2:c.61C>A NP_001157942.1:p.Pro21Thr NC_000011.10:60497378:C:A p.(Pro21Thr) NC_000011.10:60497378:C:A p.(Pro21Thr) NC_000011.10:60497378:C:A Identity +NM_001146334.2:c.1402G>T NP_001139806.1:p.Val468Leu NC_000007.14:45084777:C:A p.(Val468Leu) NC_000007.14:45084777:C:A p.(Val468Leu) NC_000007.14:45084777:C:A Identity +NM_001168271.2:c.2230T>G NP_001161743.1:p.Ser744Ala NC_000003.12:120167234:A:C p.(Ser744Ala) NC_000003.12:120167234:A:C p.(Ser744Ala) NC_000003.12:120167234:A:C Identity +NM_000511.6:c.971C>T NP_000502.4:p.Ala324Val NC_000019.10:48703926:C:T p.(Ala324Val) NC_000019.10:48703926:C:T p.(Ala324Val) NC_000019.10:48703926:C:T Identity +NM_001261408.2:c.1469C>T NP_001248337.1:p.Ala490Val NC_000001.11:93582517:G:A p.(Ala490Val) NC_000001.11:93582517:G:A p.(Ala490Val) NC_000001.11:93582517:G:A Identity +NM_001102603.2:c.2150G>A NP_001096073.1:p.Arg717His NC_000019.10:53068383:C:T p.(Arg717His) NC_000019.10:53068383:C:T p.(Arg717His) NC_000019.10:53068383:C:T Identity +NM_018912.3:c.1739T>G NP_061735.1:p.Leu580Arg NC_000005.10:141332422:T:G p.(Leu580Arg) NC_000005.10:141332422:T:G p.(Leu580Arg) NC_000005.10:141332422:T:G Identity +NM_014011.5:c.126G>C NP_054730.1:p.Glu42Asp NC_000002.12:46758655:G:C p.(Glu42Asp) NC_000002.12:46758655:G:C p.(Glu42Asp) NC_000002.12:46758655:G:C Identity +NM_001136022.3:c.2554A>C NP_001129494.1:p.Ser852Arg NC_000014.9:24376601:A:C p.(Ser852Arg) NC_000014.9:24376601:A:C p.(Ser852Arg) NC_000014.9:24376601:A:C Identity +NM_004708.4:c.350T>C NP_004699.1:p.Met117Thr NC_000019.10:32587271:T:C p.(Met117Thr) NC_000019.10:32587271:T:C p.(Met117Thr) NC_000019.10:32587271:T:C Identity +NM_001164840.3:c.287A>G NP_001158312.1:p.Lys96Arg NC_000006.12:5186900:T:C p.(Lys96Arg) NC_000006.12:5186900:T:C p.(Lys96Arg) NC_000006.12:5186900:T:C Identity +NM_032487.5:c.152T>G NP_115876.3:p.Leu51Arg NC_000003.12:169769368:A:C p.(Leu51Arg) NC_000003.12:169769368:A:C p.(Leu51Arg) NC_000003.12:169769368:A:C Identity +NM_001012975.3:c.350G>A NP_001012993.1:p.Arg117Lys NC_000014.9:20510820:G:A p.(Arg117Lys) NC_000014.9:20510820:G:A p.(Arg117Lys) NC_000014.9:20510820:G:A Identity +NM_172347.3:c.1253C>T NP_758857.1:p.Thr418Met NC_000016.10:84222523:G:A p.(Thr418Met) NC_000016.10:84222523:G:A p.(Thr418Met) NC_000016.10:84222523:G:A Identity +NM_001099642.2:c.918C>G NP_001093112.1:p.Ser306Arg NC_000016.10:71285002:G:C p.(Ser306Arg) NC_000016.10:71285002:G:C p.(Ser306Arg) NC_000016.10:71285002:G:C Identity +NM_001134453.3:c.1401G>T NP_001127925.1:p.Glu467Asp NC_000018.10:31401003:G:T p.(Glu467Asp) NC_000018.10:31401003:G:T p.(Glu467Asp) NC_000018.10:31401003:G:T Identity +NM_001366910.1:c.212A>G NP_001353839.1:p.Asn71Ser NC_000019.10:42314466:A:G p.(Asn71Ser) NC_000019.10:42314466:A:G p.(Asn71Ser) NC_000019.10:42314466:A:G Identity +NM_001163941.2:c.3577G>T NP_001157413.1:p.Val1193Leu NC_000007.14:20755426:G:T p.(Val1193Leu) NC_000007.14:20755426:G:T p.(Val1193Leu) NC_000007.14:20755426:G:T Identity +NM_003104.6:c.752C>T NP_003095.2:p.Thr251Met NC_000015.10:45069017:C:T p.(Thr251Met) NC_000015.10:45069017:C:T p.(Thr251Met) NC_000015.10:45069017:C:T Identity +NM_002809.4:c.279C>G NP_002800.2:p.Phe93Leu NC_000017.11:39984351:C:G p.(Phe93Leu) NC_000017.11:39984351:C:G p.(Phe93Leu) NC_000017.11:39984351:C:G Identity +NM_001270485.2:c.169G>A NP_001257414.1:p.Glu57Lys NC_000012.12:121274357:C:T p.(Glu57Lys) NC_000012.12:121274357:C:T p.(Glu57Lys) NC_000012.12:121274357:C:T Identity +NM_001348.3:c.995C>A NP_001339.1:p.Ala332Glu NC_000019.10:3959470:G:T p.(Ala332Glu) NC_000019.10:3959470:G:T p.(Ala332Glu) NC_000019.10:3959470:G:T Identity +NM_007001.3:c.688A>G NP_008932.2:p.Thr230Ala NC_000009.12:96336780:T:C p.(Thr230Ala) NC_000009.12:96336780:T:C p.(Thr230Ala) NC_000009.12:96336780:T:C Identity +NM_153610.5:c.3649A>C NP_705838.3:p.Thr1217Pro NC_000005.10:79732413:A:C p.(Thr1217Pro) NC_000005.10:79732413:A:C p.(Thr1217Pro) NC_000005.10:79732413:A:C Identity +NM_032188.3:c.115G>A NP_115564.2:p.Gly39Ser NC_000016.10:31117795:G:A p.(Gly39Ser) NC_000016.10:31117795:G:A p.(Gly39Ser) NC_000016.10:31117795:G:A Identity +NM_001080463.2:c.1607A>G NP_001073932.1:p.Asp536Gly NC_000011.10:103122945:A:G p.(Asp536Gly) NC_000011.10:103122945:A:G p.(Asp536Gly) NC_000011.10:103122945:A:G Identity +NM_001207048.3:c.644C>T NP_001193977.1:p.Thr215Met NC_000011.10:117291047:G:A p.(Thr215Met) NC_000011.10:117291047:G:A p.(Thr215Met) NC_000011.10:117291047:G:A Identity +NM_001100159.3:c.345G>T NP_001093629.1:p.Gln115His NC_000007.14:48043583:G:T p.(Gln115His) NC_000007.14:48043583:G:T p.(Gln115His) NC_000007.14:48043583:G:T Identity +NM_001001914.1:c.40C>G NP_001001914.1:p.Leu14Val NC_000001.11:247605624:C:G p.(Leu14Val) NC_000001.11:247605624:C:G p.(Leu14Val) NC_000001.11:247605624:C:G Identity +NM_001080836.3:c.109G>A NP_001074305.1:p.Glu37Lys NC_000010.11:14966576:G:A p.(Glu37Lys) NC_000010.11:14966576:G:A p.(Glu37Lys) NC_000010.11:14966576:G:A Identity +NM_001006939.4:c.79G>A NP_001006940.3:p.Asp27Asn NC_000010.11:48914076:C:T p.(Asp27Asn) NC_000010.11:48914076:C:T p.(Asp27Asn) NC_000010.11:48914076:C:T Identity +NM_144622.3:c.1418T>C NP_653223.2:p.Phe473Ser NC_000001.11:155026639:A:G p.(Phe473Ser) NC_000001.11:155026639:A:G p.(Phe473Ser) NC_000001.11:155026639:A:G Identity +NM_153366.4:c.9853A>G NP_699197.3:p.Arg3285Gly NC_000009.12:110389556:T:C p.(Arg3285Gly) NC_000009.12:110389556:T:C p.(Arg3285Gly) NC_000009.12:110389556:T:C Identity +NM_001306158.2:c.413A>C NP_001293087.1:p.Asp138Ala NC_000002.12:113641355:A:C p.(Asp138Ala) NC_000002.12:113641355:A:C p.(Asp138Ala) NC_000002.12:113641355:A:C Identity +NM_001101421.4:c.1520C>T NP_001094891.4:p.Pro507Leu NC_000012.12:109415542:C:T p.(Pro507Leu) NC_000012.12:109415542:C:T p.(Pro507Leu) NC_000012.12:109415542:C:T Identity +NM_001190458.2:c.1522C>G NP_001177387.1:p.Leu508Val NC_000009.12:368063:C:G p.(Leu508Val) NC_000009.12:368063:C:G p.(Leu508Val) NC_000009.12:368063:C:G Identity +NM_001377303.1:c.1799C>G NP_001364232.1:p.Thr600Arg NC_000020.11:43534915:C:G p.(Thr600Arg) NC_000020.11:43534915:C:G p.(Thr600Arg) NC_000020.11:43534915:C:G Identity +NM_001014447.3:c.1585C>T NP_001014447.2:p.Arg529Cys NC_000004.12:8618509:C:T p.(Arg529Cys) NC_000004.12:8618509:C:T p.(Arg529Cys) NC_000004.12:8618509:C:T Identity +NM_001330206.2:c.23C>T NP_001317135.1:p.Thr8Met NC_000017.11:39730472:G:A p.(Thr8Met) NC_000017.11:39730472:G:A p.(Thr8Met) NC_000017.11:39730472:G:A Identity +NM_001271804.2:c.1114C>G NP_001258733.1:p.Gln372Glu NC_000023.11:54937642:G:C p.(Gln372Glu) NC_000023.11:54937642:G:C p.(Gln372Glu) NC_000023.11:54937642:G:C Identity +NM_014817.4:c.38T>C NP_055632.2:p.Val13Ala NC_000007.14:28958008:A:G p.(Val13Ala) NC_000007.14:28958008:A:G p.(Val13Ala) NC_000007.14:28958008:A:G Identity +NM_001166.5:c.1457A>G NP_001157.1:p.Asn486Ser NC_000011.10:102377585:A:G p.(Asn486Ser) NC_000011.10:102377585:A:G p.(Asn486Ser) NC_000011.10:102377585:A:G Identity +NM_018378.3:c.10C>G NP_060848.2:p.Pro4Ala NC_000016.10:67161794:C:G p.(Pro4Ala) NC_000016.10:67161794:C:G p.(Pro4Ala) NC_000016.10:67161794:C:G Identity +NM_001301010.3:c.1552C>T NP_001287939.2:p.Leu518Phe NC_000011.10:107505100:G:A p.(Leu518Phe) NC_000011.10:107505100:G:A p.(Leu518Phe) NC_000011.10:107505100:G:A Identity +NM_145807.4:c.521G>A NP_665806.1:p.Arg174His NC_000019.10:48670465:C:T p.(Arg174His) NC_000019.10:48670465:C:T p.(Arg174His) NC_000019.10:48670465:C:T Identity +NM_001253727.2:c.373G>A NP_001240656.1:p.Gly125Ser NC_000004.12:158599330:G:A p.(Gly125Ser) NC_000004.12:158599330:G:A p.(Gly125Ser) NC_000004.12:158599330:G:A Identity +NM_001300883.3:c.374C>T NP_001287812.1:p.Thr125Met NC_000019.10:9529556:G:A p.(Thr125Met) NC_000019.10:9529556:G:A p.(Thr125Met) NC_000019.10:9529556:G:A Identity +NM_133445.3:c.1900A>G NP_597702.2:p.Ile634Val NC_000009.12:101670511:T:C p.(Ile634Val) NC_000009.12:101670511:T:C p.(Ile634Val) NC_000009.12:101670511:T:C Identity +NM_012421.4:c.23C>T NP_036553.2:p.Ala8Val NC_000001.11:40161421:C:T p.(Ala8Val) NC_000001.11:40161421:C:T p.(Ala8Val) NC_000001.11:40161421:C:T Identity +NM_001318860.2:c.196del NP_001305789.1:p.Asp66fs NC_000002.12:73950627:G: p.(Asp66ThrfsTer38) NC_000002.12:73950627:G: p.(Asp66ThrfsTer38) NC_000002.12:73950627:G: Analogous +NM_015188.2:c.1150C>T NP_056003.1:p.Arg384Cys NC_000010.11:94474721:C:T p.(Arg384Cys) NC_000010.11:94474721:C:T p.(Arg384Cys) NC_000010.11:94474721:C:T Identity +NM_001372.4:c.3394G>A NP_001363.2:p.Gly1132Ser NC_000017.11:11679796:G:A p.(Gly1132Ser) NC_000017.11:11679796:G:A p.(Gly1132Ser) NC_000017.11:11679796:G:A Identity +NM_001370096.2:c.863A>G NP_001357025.1:p.Asp288Gly NC_000019.10:55529916:T:C p.(Asp288Gly) NC_000019.10:55529916:T:C p.(Asp288Gly) NC_000019.10:55529916:T:C Identity +NM_001286429.2:c.1966G>A NP_001273358.1:p.Gly656Arg NC_000015.10:71777362:G:A p.(Gly656Arg) NC_000015.10:71777362:G:A p.(Gly656Arg) NC_000015.10:71777362:G:A Identity +NM_001278352.2:c.1994C>T NP_001265281.1:p.Ala665Val NC_000009.12:32434595:C:T p.(Ala665Val) NC_000009.12:32434595:C:T p.(Ala665Val) NC_000009.12:32434595:C:T Identity +NM_001379611.1:c.103C>T NP_001366540.1:p.Leu35Phe NC_000004.12:110476516:C:T p.(Leu35Phe) NC_000004.12:110476516:C:T p.(Leu35Phe) NC_000004.12:110476516:C:T Identity +NM_001284260.2:c.97G>A NP_001271189.1:p.Gly33Ser NC_000007.14:151409492:C:T p.(Gly33Ser) NC_000007.14:151409492:C:T p.(Gly33Ser) NC_000007.14:151409492:C:T Identity +NM_001410886.1:c.423A>C NP_001397815.1:p.Lys141Asn NC_000001.11:158939090:A:C p.(Lys141Asn) NC_000001.11:158939090:A:C p.(Lys141Asn) NC_000001.11:158939090:A:C Identity +NM_015204.3:c.1489C>T NP_056019.1:p.Pro497Ser NC_000007.14:11543081:G:A p.(Pro497Ser) NC_000007.14:11543081:G:A p.(Pro497Ser) NC_000007.14:11543081:G:A Identity +NM_001318316.2:c.136G>A NP_001305245.1:p.Ala46Thr NC_000022.11:28751275:G:A p.(Ala46Thr) NC_000022.11:28751275:G:A p.(Ala46Thr) NC_000022.11:28751275:G:A Identity +NM_206933.4:c.10904C>G NP_996816.3:p.Thr3635Ser NC_000001.11:215779877:G:C p.(Thr3635Ser) NC_000001.11:215779877:G:C p.(Thr3635Ser) NC_000001.11:215779877:G:C Identity +NM_005560.6:c.8485G>A NP_005551.3:p.Ala2829Thr NC_000020.11:62314322:C:T p.(Ala2829Thr) NC_000020.11:62314322:C:T p.(Ala2829Thr) NC_000020.11:62314322:C:T Identity +NM_001128165.2:c.952G>A NP_001121637.1:p.Gly318Ser NC_000002.12:112187275:G:A p.(Gly318Ser) NC_000002.12:112187275:G:A p.(Gly318Ser) NC_000002.12:112187275:G:A Identity +NM_001330177.2:c.1639G>A NP_001317106.1:p.Val547Met NC_000014.9:60118388:G:A p.(Val547Met) NC_000014.9:60118388:G:A p.(Val547Met) NC_000014.9:60118388:G:A Identity +NM_021733.2:c.243C>A NP_068379.1:p.Asn81Lys NC_000019.10:49762159:G:T p.(Asn81Lys) NC_000019.10:49762159:G:T p.(Asn81Lys) NC_000019.10:49762159:G:T Identity +NM_001080976.3:c.2495A>G NP_001074445.1:p.Asn832Ser NC_000006.12:116436962:A:G p.(Asn832Ser) NC_000006.12:116436962:A:G p.(Asn832Ser) NC_000006.12:116436962:A:G Identity +NM_014698.3:c.1957G>A NP_055513.2:p.Val653Ile NC_000001.11:225850025:C:T p.(Val653Ile) NC_000001.11:225850025:C:T p.(Val653Ile) NC_000001.11:225850025:C:T Identity +NM_001172775.2:c.1417C>A NP_001166246.1:p.His473Asn NC_000019.10:2853484:C:A p.(His473Asn) NC_000019.10:2853484:C:A p.(His473Asn) NC_000019.10:2853484:C:A Identity +NM_014805.4:c.548C>T NP_055620.1:p.Ala183Val NC_000003.12:36992529:G:A p.(Ala183Val) NC_000003.12:36992529:G:A p.(Ala183Val) NC_000003.12:36992529:G:A Identity +NM_001136216.2:c.505G>A NP_001129688.1:p.Glu169Lys NC_000001.11:15219485:G:A p.(Glu169Lys) NC_000001.11:15219485:G:A p.(Glu169Lys) NC_000001.11:15219485:G:A Identity +NM_004418.4:c.28G>C NP_004409.1:p.Glu10Gln NC_000002.12:96145326:C:G p.(Glu10Gln) NC_000002.12:96145326:C:G p.(Glu10Gln) NC_000002.12:96145326:C:G Identity +NM_138706.5:c.800C>A NP_619651.3:p.Pro267Gln NC_000011.10:77040350:C:A p.(Pro267Gln) NC_000011.10:77040350:C:A p.(Pro267Gln) NC_000011.10:77040350:C:A Identity +NM_001323281.2:c.371T>C NP_001310210.1:p.Met124Thr NC_000020.11:37044203:A:G p.(Met124Thr) NC_000020.11:37044203:A:G p.(Met124Thr) NC_000020.11:37044203:A:G Identity +NM_001316327.2:c.817C>T NP_001303256.1:p.Arg273Trp NC_000003.12:53184902:C:T p.(Arg273Trp) NC_000003.12:53184902:C:T p.(Arg273Trp) NC_000003.12:53184902:C:T Identity +NM_178828.5:c.770C>T NP_849150.3:p.Pro257Leu NC_000009.12:87885256:C:T p.(Pro257Leu) NC_000009.12:87885256:C:T p.(Pro257Leu) NC_000009.12:87885256:C:T Identity +NM_001037281.2:c.1004G>A NP_001032358.1:p.Arg335His NC_000016.10:67662612:G:A p.(Arg335His) NC_000016.10:67662612:G:A p.(Arg335His) NC_000016.10:67662612:G:A Identity +NM_130439.3:c.13G>A NP_569157.2:p.Gly5Arg NC_000010.11:110207820:G:A p.(Gly5Arg) NC_000010.11:110207820:G:A p.(Gly5Arg) NC_000010.11:110207820:G:A Identity +NM_004769.4:c.122G>A NP_004760.1:p.Arg41His NC_000007.14:151049006:G:A p.(Arg41His) NC_000007.14:151049006:G:A p.(Arg41His) NC_000007.14:151049006:G:A Identity +NM_002793.4:c.194C>T NP_002784.1:p.Thr65Met NC_000006.12:170549032:G:A p.(Thr65Met) NC_000006.12:170549032:G:A p.(Thr65Met) NC_000006.12:170549032:G:A Identity +NM_001017363.4:c.1156C>T NP_001017363.1:p.Arg386Cys NC_000009.12:34621540:G:A p.(Arg386Cys) NC_000009.12:34621540:G:A p.(Arg386Cys) NC_000009.12:34621540:G:A Identity +NM_001282857.2:c.2139A>C NP_001269786.1:p.Lys713Asn NC_000003.12:142400511:T:G p.(Lys713Asn) NC_000003.12:142400511:T:G p.(Lys713Asn) NC_000003.12:142400511:T:G Identity +NM_001164766.2:c.5411C>T NP_001158238.1:p.Ala1804Val NC_000016.10:72794528:G:A p.(Ala1804Val) NC_000016.10:72794528:G:A p.(Ala1804Val) NC_000016.10:72794528:G:A Identity +NM_001128228.3:c.905C>A NP_001121700.2:p.Ala302Asp NC_000009.12:137199806:G:T p.(Ala302Asp) NC_000009.12:137199806:G:T p.(Ala302Asp) NC_000009.12:137199806:G:T Identity +NM_001193314.2:c.776G>A NP_001180243.1:p.Arg259Gln NC_000014.9:77437867:C:T p.(Arg259Gln) NC_000014.9:77437867:C:T p.(Arg259Gln) NC_000014.9:77437867:C:T Identity +NM_014760.4:c.272C>G NP_055575.3:p.Pro91Arg NC_000003.12:10249471:C:G p.(Pro91Arg) NC_000003.12:10249471:C:G p.(Pro91Arg) NC_000003.12:10249471:C:G Identity +NM_020820.4:c.3131G>T NP_065871.3:p.Gly1044Val NC_000020.11:48649473:C:A p.(Gly1044Val) NC_000020.11:48649473:C:A p.(Gly1044Val) NC_000020.11:48649473:C:A Identity +NM_001308360.2:c.397G>A NP_001295289.1:p.Ala133Thr NC_000016.10:57680353:G:A p.(Ala133Thr) NC_000016.10:57680353:G:A p.(Ala133Thr) NC_000016.10:57680353:G:A Identity +NM_032865.6:c.1921C>T NP_116254.4:p.Arg641Trp NC_000017.11:40478637:G:A p.(Arg641Trp) NC_000017.11:40478637:G:A p.(Arg641Trp) NC_000017.11:40478637:G:A Identity +NM_001003938.4:c.62A>G NP_001003938.1:p.Glu21Gly NC_000016.10:166058:A:G p.(Glu21Gly) NC_000016.10:166058:A:G p.(Glu21Gly) NC_000016.10:166058:A:G Identity +NM_018717.5:c.1298G>A NP_061187.3:p.Arg433Gln NC_000004.12:139890137:C:T p.(Arg433Gln) NC_000004.12:139890137:C:T p.(Arg433Gln) NC_000004.12:139890137:C:T Identity +NM_012113.3:c.529A>C NP_036245.1:p.Ile177Leu NC_000001.11:150262836:A:C p.(Ile177Leu) NC_000001.11:150262836:A:C p.(Ile177Leu) NC_000001.11:150262836:A:C Identity +NM_001164.5:c.1156G>A NP_001155.1:p.Ala386Thr NC_000011.10:6402673:C:T p.(Ala386Thr) NC_000011.10:6402673:C:T p.(Ala386Thr) NC_000011.10:6402673:C:T Identity +NM_173628.4:c.6379G>A NP_775899.3:p.Val2127Ile NC_000017.11:78494064:C:T p.(Val2127Ile) NC_000017.11:78494064:C:T p.(Val2127Ile) NC_000017.11:78494064:C:T Identity +NM_002458.3:c.10694C>T NP_002449.2:p.Thr3565Met NC_000011.10:1247573:C:T p.(Thr3565Met) NC_000011.10:1247573:C:T p.(Thr3565Met) NC_000011.10:1247573:C:T Identity +NM_004947.5:c.1709A>T NP_004938.1:p.Glu570Val NC_000003.12:51228721:A:T p.(Glu570Val) NC_000003.12:51228721:A:T p.(Glu570Val) NC_000003.12:51228721:A:T Identity +NM_001145392.2:c.271G>C NP_001138864.1:p.Asp91His NC_000003.12:12492216:G:C p.(Asp91His) NC_000003.12:12492216:G:C p.(Asp91His) NC_000003.12:12492216:G:C Identity +NM_001204477.2:c.419G>A NP_001191406.1:p.Arg140His NC_000017.11:15437812:C:T p.(Arg140His) NC_000017.11:15437812:C:T p.(Arg140His) NC_000017.11:15437812:C:T Identity +NM_001286826.2:c.194C>G NP_001273755.1:p.Ala65Gly NC_000019.10:18008503:C:G p.(Ala65Gly) NC_000019.10:18008503:C:G p.(Ala65Gly) NC_000019.10:18008503:C:G Identity +NM_001006655.3:c.1153C>T NP_001006656.1:p.Arg385Cys NC_000004.12:186165452:C:T p.(Arg385Cys) NC_000004.12:186165452:C:T p.(Arg385Cys) NC_000004.12:186165452:C:T Identity +NM_001085384.3:c.742A>G NP_001078853.1:p.Ser248Gly NC_000019.10:57702206:T:C p.(Ser248Gly) NC_000019.10:57702206:T:C p.(Ser248Gly) NC_000019.10:57702206:T:C Identity +NM_032548.4:c.640G>A NP_115937.1:p.Ala214Thr NC_000003.12:127680020:G:A p.(Ala214Thr) NC_000003.12:127680020:G:A p.(Ala214Thr) NC_000003.12:127680020:G:A Identity +NM_138392.4:c.1877G>A NP_612401.2:p.Arg626His NC_000019.10:40590837:G:A p.(Arg626His) NC_000019.10:40590837:G:A p.(Arg626His) NC_000019.10:40590837:G:A Identity +NM_001393355.1:c.490G>C NP_001380284.1:p.Asp164His NC_000013.11:99864868:G:C p.(Asp164His) NC_000013.11:99864868:G:C p.(Asp164His) NC_000013.11:99864868:G:C Identity +NM_001305878.2:c.1009C>T NP_001292807.1:p.Arg337Cys NC_000008.11:41978675:G:A p.(Arg337Cys) NC_000008.11:41978675:G:A p.(Arg337Cys) NC_000008.11:41978675:G:A Identity +NM_001321375.2:c.42G>C NP_001308304.1:p.Gln14His NC_000019.10:57722367:C:G p.(Gln14His) NC_000019.10:57722367:C:G p.(Gln14His) NC_000019.10:57722367:C:G Identity +NM_001166347.2:c.495C>G NP_001159819.1:p.Ile165Met NC_000017.11:80223318:C:G p.(Ile165Met) NC_000017.11:80223318:C:G p.(Ile165Met) NC_000017.11:80223318:C:G Identity +NM_001145638.3:c.704G>A NP_001139110.2:p.Arg235His NC_000009.12:136337846:G:A p.(Arg235His) NC_000009.12:136337846:G:A p.(Arg235His) NC_000009.12:136337846:G:A Identity +NM_001289861.2:c.2688T>G NP_001276790.1:p.Ser896Arg NC_000001.11:7827616:T:G p.(Ser896Arg) NC_000001.11:7827616:T:G p.(Ser896Arg) NC_000001.11:7827616:T:G Identity +NM_001145365.3:c.1712C>T NP_001138837.1:p.Pro571Leu NC_000017.11:49298521:G:A p.(Pro571Leu) NC_000017.11:49298521:G:A p.(Pro571Leu) NC_000017.11:49298521:G:A Identity +NM_016327.3:c.675C>G NP_057411.1:p.Phe225Leu NC_000022.11:24515253:C:G p.(Phe225Leu) NC_000022.11:24515253:C:G p.(Phe225Leu) NC_000022.11:24515253:C:G Identity +NM_001111322.2:c.1276G>A NP_001104792.1:p.Val426Met NC_000012.12:113172355:C:T p.(Val426Met) NC_000012.12:113172355:C:T p.(Val426Met) NC_000012.12:113172355:C:T Identity +NM_021942.6:c.2632G>A NP_068761.4:p.Glu878Lys NC_000004.12:183697505:G:A p.(Glu878Lys) NC_000004.12:183697505:G:A p.(Glu878Lys) NC_000004.12:183697505:G:A Identity +NM_001388022.1:c.4064C>T NP_001374951.1:p.Pro1355Leu NC_000011.10:8618804:G:A p.(Pro1355Leu) NC_000011.10:8618804:G:A p.(Pro1355Leu) NC_000011.10:8618804:G:A Identity +NM_001320766.2:c.2788A>C NP_001307695.2:p.Ile930Leu NC_000021.9:28957393:T:G p.(Ile930Leu) NC_000021.9:28957393:T:G p.(Ile930Leu) NC_000021.9:28957393:T:G Identity +NM_001098509.2:c.2288C>G NP_001091979.1:p.Pro763Arg NC_000017.11:2375813:C:G p.(Pro763Arg) NC_000017.11:2375813:C:G p.(Pro763Arg) NC_000017.11:2375813:C:G Identity +NM_001297743.3:c.1763G>A NP_001284672.1:p.Arg588His NC_000019.10:55801682:C:T p.(Arg588His) NC_000019.10:55801682:C:T p.(Arg588His) NC_000019.10:55801682:C:T Identity +NM_001316331.2:c.125C>G NP_001303260.1:p.Thr42Ser NC_000003.12:51978070:C:G p.(Thr42Ser) NC_000003.12:51978070:C:G p.(Thr42Ser) NC_000003.12:51978070:C:G Identity +NM_001318328.2:c.1136G>A NP_001305257.1:p.Arg379His NC_000010.11:86500106:C:T p.(Arg379His) NC_000010.11:86500106:C:T p.(Arg379His) NC_000010.11:86500106:C:T Identity +NM_080668.4:c.325C>T NP_542399.1:p.Pro109Ser NC_000011.10:65079705:G:A p.(Pro109Ser) NC_000011.10:65079705:G:A p.(Pro109Ser) NC_000011.10:65079705:G:A Identity +NM_019074.4:c.1102G>A NP_061947.1:p.Asp368Asn NC_000015.10:40934978:G:A p.(Asp368Asn) NC_000015.10:40934978:G:A p.(Asp368Asn) NC_000015.10:40934978:G:A Identity +NM_182502.3:c.118G>A NP_872308.2:p.Ala40Thr NC_000004.12:68241694:C:T p.(Ala40Thr) NC_000004.12:68241694:C:T p.(Ala40Thr) NC_000004.12:68241694:C:T Identity +NM_001116.4:c.1930G>A NP_001107.2:p.Gly644Ser NC_000016.10:3993464:C:T p.(Gly644Ser) NC_000016.10:3993464:C:T p.(Gly644Ser) NC_000016.10:3993464:C:T Identity +NM_001271168.2:c.905C>A NP_001258097.1:p.Pro302Gln NC_000020.11:2836097:G:T p.(Pro302Gln) NC_000020.11:2836097:G:T p.(Pro302Gln) NC_000020.11:2836097:G:T Identity +NM_001291992.2:c.337C>G NP_001278921.1:p.Arg113Gly NC_000011.10:133844267:G:C p.(Arg113Gly) NC_000011.10:133844267:G:C p.(Arg113Gly) NC_000011.10:133844267:G:C Identity +NM_001164586.2:c.2387G>A NP_001158058.1:p.Gly796Asp NC_000001.11:201207279:G:A p.(Gly796Asp) NC_000001.11:201207279:G:A p.(Gly796Asp) NC_000001.11:201207279:G:A Identity +NM_016343.4:c.3794A>G NP_057427.3:p.Glu1265Gly NC_000001.11:214642131:A:G p.(Glu1265Gly) NC_000001.11:214642131:A:G p.(Glu1265Gly) NC_000001.11:214642131:A:G Identity +NM_005893.3:c.406T>C NP_005884.2:p.Tyr136His NC_000009.12:36169907:T:C p.(Tyr136His) NC_000009.12:36169907:T:C p.(Tyr136His) NC_000009.12:36169907:T:C Identity +NM_001303538.2:c.775G>A NP_001290467.1:p.Val259Ile NC_000019.10:48342624:C:T p.(Val259Ile) NC_000019.10:48342624:C:T p.(Val259Ile) NC_000019.10:48342624:C:T Identity +NM_019044.5:c.1447C>T NP_061917.3:p.Arg483Cys NC_000002.12:117941263:G:A p.(Arg483Cys) NC_000002.12:117941263:G:A p.(Arg483Cys) NC_000002.12:117941263:G:A Identity +NM_000072.3:c.401A>T NP_000063.2:p.Asn134Ile NC_000007.14:80661181:A:T p.(Asn134Ile) NC_000007.14:80661181:A:T p.(Asn134Ile) NC_000007.14:80661181:A:T Identity +NM_001077594.2:c.1663G>A NP_001071062.1:p.Ala555Thr NC_000014.9:103107504:G:A p.(Ala555Thr) NC_000014.9:103107504:G:A p.(Ala555Thr) NC_000014.9:103107504:G:A Identity +NM_001128210.2:c.719C>T NP_001121682.1:p.Pro240Leu NC_000002.12:65314029:G:A p.(Pro240Leu) NC_000002.12:65314029:G:A p.(Pro240Leu) NC_000002.12:65314029:G:A Identity +NM_001243646.2:c.200C>T NP_001230575.1:p.Ala67Val NC_000016.10:30354200:G:A p.(Ala67Val) NC_000016.10:30354200:G:A p.(Ala67Val) NC_000016.10:30354200:G:A Identity +NM_001080395.3:c.65C>T NP_001073864.2:p.Pro22Leu NC_000017.11:81134491:G:A p.(Pro22Leu) NC_000017.11:81134491:G:A p.(Pro22Leu) NC_000017.11:81134491:G:A Identity +NM_001098415.1:c.2420C>A NP_001091885.1:p.Pro807His NC_000012.12:47787744:G:T ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found +NM_001003407.2:c.1901G>T NP_001003407.1:p.Gly634Val NC_000010.11:114439236:C:A p.(Gly634Val) NC_000010.11:114439236:C:A p.(Gly634Val) NC_000010.11:114439236:C:A Identity +NM_001319179.2:c.82G>A NP_001306108.1:p.Gly28Ser NC_000001.11:89014655:C:T p.(Gly28Ser) NC_000001.11:89014655:C:T p.(Gly28Ser) NC_000001.11:89014655:C:T Identity +NM_001989.5:c.21G>A NP_001980.1:p.Met7Ile NC_000007.14:27243050:G:A p.(Met7Ile) NC_000007.14:27243050:G:A p.(Met7Ile) NC_000007.14:27243050:G:A Identity +NM_145212.4:c.229A>G NP_660213.1:p.Arg77Gly NC_000002.12:99194846:A:G p.(Arg77Gly) NC_000002.12:99194846:A:G p.(Arg77Gly) NC_000002.12:99194846:A:G Identity +NM_001130083.2:c.616G>A NP_001123555.1:p.Ala206Thr NC_000004.12:8077686:C:T p.(Ala206Thr) NC_000004.12:8077686:C:T p.(Ala206Thr) NC_000004.12:8077686:C:T Identity +NM_024694.4:c.4384A>G NP_078970.3:p.Met1462Val NC_000006.12:146788456:A:G p.(Met1462Val) NC_000006.12:146788456:A:G p.(Met1462Val) NC_000006.12:146788456:A:G Identity +NM_001411141.1:c.2564A>T NP_001398070.1:p.Tyr855Phe NC_000019.10:2217790:A:T p.(Tyr855Phe) NC_000019.10:2217790:A:T p.(Tyr855Phe) NC_000019.10:2217790:A:T Identity +NM_003632.3:c.2804G>A NP_003623.1:p.Arg935His NC_000017.11:42693347:G:A p.(Arg935His) NC_000017.11:42693347:G:A p.(Arg935His) NC_000017.11:42693347:G:A Identity +NM_004224.3:c.1096C>T NP_004215.2:p.Arg366Trp NC_000023.11:151180678:C:T p.(Arg366Trp) NC_000023.11:151180678:C:T p.(Arg366Trp) NC_000023.11:151180678:C:T Identity +NM_145176.3:c.1365C>A NP_660159.1:p.Asp455Glu NC_000006.12:134028459:G:T p.(Asp455Glu) NC_000006.12:134028459:G:T p.(Asp455Glu) NC_000006.12:134028459:G:T Identity +NM_001128636.4:c.1877G>A NP_001122108.1:p.Arg626Gln NC_000007.14:1746472:G:A p.(Arg626Gln) NC_000007.14:1746472:G:A p.(Arg626Gln) NC_000007.14:1746472:G:A Identity +NM_001199080.4:c.152T>G NP_001186009.2:p.Val51Gly NC_000001.11:53070006:T:G p.(Val51Gly) NC_000001.11:53070006:T:G p.(Val51Gly) NC_000001.11:53070006:T:G Identity +NM_001013660.4:c.925A>G NP_001013682.2:p.Ile309Val NC_000001.11:99728573:T:C p.(Ile309Val) NC_000001.11:99728573:T:C p.(Ile309Val) NC_000001.11:99728573:T:C Identity +NM_005940.5:c.1444G>A NP_005931.2:p.Glu482Lys NC_000022.11:23783520:G:A p.(Glu482Lys) NC_000022.11:23783520:G:A p.(Glu482Lys) NC_000022.11:23783520:G:A Identity +NM_001318918.2:c.1165G>A NP_001305847.1:p.Gly389Ser NC_000016.10:4337113:G:A p.(Gly389Ser) NC_000016.10:4337113:G:A p.(Gly389Ser) NC_000016.10:4337113:G:A Identity +NM_001207066.2:c.782G>A NP_001193995.1:p.Arg261His NC_000021.9:17561424:G:A p.(Arg261His) NC_000021.9:17561424:G:A p.(Arg261His) NC_000021.9:17561424:G:A Identity +NM_001271854.2:c.1304C>T NP_001258783.1:p.Pro435Leu NC_000015.10:39801372:G:A p.(Pro435Leu) NC_000015.10:39801372:G:A p.(Pro435Leu) NC_000015.10:39801372:G:A Identity +NM_145053.5:c.821A>G NP_659490.4:p.Tyr274Cys NC_000011.10:5515620:T:C p.(Tyr274Cys) NC_000011.10:5515620:T:C p.(Tyr274Cys) NC_000011.10:5515620:T:C Identity +NM_001130955.2:c.812G>A NP_001124427.2:p.Arg271His NC_000019.10:7444380:G:A p.(Arg271His) NC_000019.10:7444380:G:A p.(Arg271His) NC_000019.10:7444380:G:A Identity +NM_005762.3:c.2300G>A NP_005753.1:p.Arg767His NC_000019.10:58550252:G:A p.(Arg767His) NC_000019.10:58550252:G:A p.(Arg767His) NC_000019.10:58550252:G:A Identity +NM_001172439.2:c.268T>C NP_001165910.1:p.Cys90Arg NC_000012.12:47717631:A:G p.(Cys90Arg) NC_000012.12:47717631:A:G p.(Cys90Arg) NC_000012.12:47717631:A:G Identity +NM_033449.3:c.663C>A NP_258260.1:p.His221Gln NC_000005.10:141648009:G:T p.(His221Gln) NC_000005.10:141648009:G:T p.(His221Gln) NC_000005.10:141648009:G:T Identity +NM_138330.3:c.677A>G NP_612203.2:p.Lys226Arg NC_000019.10:23654255:T:C p.(Lys226Arg) NC_000019.10:23654255:T:C p.(Lys226Arg) NC_000019.10:23654255:T:C Identity +NM_001242767.2:c.121G>A NP_001229696.1:p.Gly41Ser NC_000006.12:150865942:G:A p.(Gly41Ser) NC_000006.12:150865942:G:A p.(Gly41Ser) NC_000006.12:150865942:G:A Identity +NM_001159286.2:c.956C>T NP_001152758.1:p.Ala319Val NC_000022.11:50248289:G:A p.(Ala319Val) NC_000022.11:50248289:G:A p.(Ala319Val) NC_000022.11:50248289:G:A Identity +NM_001278636.1:c.319G>A NP_001265565.1:p.Ala107Thr NC_000013.11:49663117:C:T p.(Ala107Thr) NC_000013.11:49663117:C:T p.(Ala107Thr) NC_000013.11:49663117:C:T Identity +NM_001098816.3:c.4687A>G NP_001092286.2:p.Ile1563Val NC_000011.10:78701925:T:C p.(Ile1563Val) NC_000011.10:78701925:T:C p.(Ile1563Val) NC_000011.10:78701925:T:C Identity +NM_024677.6:c.1859A>G NP_078953.4:p.Lys620Arg NC_000004.12:40808640:A:G p.(Lys620Arg) NC_000004.12:40808640:A:G p.(Lys620Arg) NC_000004.12:40808640:A:G Identity +NM_025179.4:c.3077G>A NP_079455.3:p.Arg1026Gln NC_000001.11:208051339:C:T p.(Arg1026Gln) NC_000001.11:208051339:C:T p.(Arg1026Gln) NC_000001.11:208051339:C:T Identity +NM_001159554.2:c.779C>A NP_001153026.1:p.Ser260Tyr NC_000022.11:21023584:C:A p.(Ser260Tyr) NC_000022.11:21023584:C:A p.(Ser260Tyr) NC_000022.11:21023584:C:A Identity +NM_001284259.2:c.4416A>T NP_001271188.1:p.Gln1472His NC_000010.11:89754585:A:T p.(Gln1472His) NC_000010.11:89754585:A:T p.(Gln1472His) NC_000010.11:89754585:A:T Identity +NM_001177969.2:c.1874C>T NP_001171440.1:p.Ala625Val NC_000002.12:36814197:C:T p.(Ala625Val) NC_000002.12:36814197:C:T p.(Ala625Val) NC_000002.12:36814197:C:T Identity +NM_001128228.3:c.1656C>G NP_001121700.2:p.Ile552Met NC_000009.12:137199055:G:C p.(Ile552Met) NC_000009.12:137199055:G:C p.(Ile552Met) NC_000009.12:137199055:G:C Identity +NM_003083.4:c.37C>T NP_003074.1:p.Arg13Cys NC_000019.10:7920402:C:T p.(Arg13Cys) NC_000019.10:7920402:C:T p.(Arg13Cys) NC_000019.10:7920402:C:T Identity +NM_033198.4:c.445G>A NP_149975.1:p.Glu149Lys NC_000017.11:28563453:C:T p.(Glu149Lys) NC_000017.11:28563453:C:T p.(Glu149Lys) NC_000017.11:28563453:C:T Identity +NM_001144878.2:c.637A>G NP_001138350.1:p.Ile213Val NC_000008.11:81671044:T:C p.(Ile213Val) NC_000008.11:81671044:T:C p.(Ile213Val) NC_000008.11:81671044:T:C Identity +NM_022110.4:c.115C>T NP_071393.2:p.Pro39Ser NC_000006.12:32129665:G:A p.(Pro39Ser) NC_000006.12:32129665:G:A p.(Pro39Ser) NC_000006.12:32129665:G:A Identity +NM_005646.4:c.782G>C NP_005637.3:p.Arg261Pro NC_000001.11:234478321:C:G p.(Arg261Pro) NC_000001.11:234478321:C:G p.(Arg261Pro) NC_000001.11:234478321:C:G Identity +NM_022451.11:c.724A>G NP_071896.8:p.Met242Val NC_000010.11:94353029:T:C p.(Met242Val) NC_000010.11:94353029:T:C p.(Met242Val) NC_000010.11:94353029:T:C Identity +NM_001286121.1:c.643G>T NP_001273050.1:p.Val215Leu NC_000006.12:25773372:G:T p.(Val215Leu) NC_000006.12:25773372:G:T p.(Val215Leu) NC_000006.12:25773372:G:T Identity +NM_001303404.2:c.1451G>A NP_001290333.1:p.Arg484His NC_000010.11:100233272:C:T p.(Arg484His) NC_000010.11:100233272:C:T p.(Arg484His) NC_000010.11:100233272:C:T Identity +NM_014991.6:c.5723G>A NP_055806.2:p.Arg1908His NC_000004.12:84753712:C:T p.(Arg1908His) NC_000004.12:84753712:C:T p.(Arg1908His) NC_000004.12:84753712:C:T Identity +NM_000977.4:c.241C>T NP_000968.2:p.Leu81Phe NC_000016.10:89561362:C:T p.(Leu81Phe) NC_000016.10:89561362:C:T p.(Leu81Phe) NC_000016.10:89561362:C:T Identity +NM_001367624.2:c.5968G>A NP_001354553.1:p.Glu1990Lys NC_000016.10:88433437:G:A p.(Glu1990Lys) NC_000016.10:88433437:G:A p.(Glu1990Lys) NC_000016.10:88433437:G:A Identity +NM_001386094.1:c.1408G>A NP_001373023.1:p.Val470Ile NC_000015.10:86264578:G:A p.(Val470Ile) NC_000015.10:86264578:G:A p.(Val470Ile) NC_000015.10:86264578:G:A Identity +NM_001080414.4:c.1481T>G NP_001073883.2:p.Leu494Arg NC_000014.9:91321165:A:C p.(Leu494Arg) NC_000014.9:91321165:A:C p.(Leu494Arg) NC_000014.9:91321165:A:C Identity +NM_001350397.2:c.3589G>A NP_001337326.1:p.Val1197Ile NC_000004.12:112587293:C:T p.(Val1197Ile) NC_000004.12:112587293:C:T p.(Val1197Ile) NC_000004.12:112587293:C:T Identity +NM_001286157.2:c.820G>A NP_001273086.1:p.Asp274Asn NC_000016.10:66729089:C:T p.(Asp274Asn) NC_000016.10:66729089:C:T p.(Asp274Asn) NC_000016.10:66729089:C:T Identity +NM_004551.3:c.580G>A NP_004542.1:p.Glu194Lys NC_000011.10:47582420:G:A p.(Glu194Lys) NC_000011.10:47582420:G:A p.(Glu194Lys) NC_000011.10:47582420:G:A Identity +NM_203424.2:c.229T>A NP_982248.1:p.Trp77Arg NC_000003.12:51863103:T:A p.(Trp77Arg) NC_000003.12:51863103:T:A p.(Trp77Arg) NC_000003.12:51863103:T:A Identity +NM_001135195.1:c.1182C>A NP_001128667.1:p.His394Gln NC_000012.12:56236720:C:A p.(His394Gln) NC_000012.12:56236720:C:A p.(His394Gln) NC_000012.12:56236720:C:A Identity +NM_001004067.4:c.1554G>C NP_001004067.1:p.Leu518Phe NC_000016.10:16263528:G:C p.(Leu518Phe) NC_000016.10:16263528:G:C p.(Leu518Phe) NC_000016.10:16263528:G:C Identity +NM_001282509.2:c.373G>A NP_001269438.1:p.Val125Met NC_000019.10:11301230:G:A p.(Val125Met) NC_000019.10:11301230:G:A p.(Val125Met) NC_000019.10:11301230:G:A Identity +NM_001256252.2:c.1203G>C NP_001243181.1:p.Leu401Phe NC_000019.10:6916306:G:C p.(Leu401Phe) NC_000019.10:6916306:G:C p.(Leu401Phe) NC_000019.10:6916306:G:C Identity +NM_001167671.3:c.1142C>T NP_001161143.1:p.Ser381Leu NC_000003.12:188708294:C:T p.(Ser381Leu) NC_000003.12:188708294:C:T p.(Ser381Leu) NC_000003.12:188708294:C:T Identity +NM_024509.2:c.605G>A NP_078785.1:p.Arg202His NC_000019.10:35940029:G:A p.(Arg202His) NC_000019.10:35940029:G:A p.(Arg202His) NC_000019.10:35940029:G:A Identity +NM_020440.4:c.2084A>G NP_065173.2:p.His695Arg NC_000001.11:116974239:A:G p.(His695Arg) NC_000001.11:116974239:A:G p.(His695Arg) NC_000001.11:116974239:A:G Identity +NM_001206942.2:c.423G>C NP_001193871.1:p.Glu141Asp NC_000003.12:47577188:C:G p.(Glu141Asp) NC_000003.12:47577188:C:G p.(Glu141Asp) NC_000003.12:47577188:C:G Identity +NM_004626.3:c.749G>A NP_004617.2:p.Arg250Gln NC_000011.10:76191704:C:T p.(Arg250Gln) NC_000011.10:76191704:C:T p.(Arg250Gln) NC_000011.10:76191704:C:T Identity +NM_153046.3:c.98C>T NP_694591.2:p.Pro33Leu NC_000014.9:103928606:C:T p.(Pro33Leu) NC_000014.9:103928606:C:T p.(Pro33Leu) NC_000014.9:103928606:C:T Identity +NM_001165257.2:c.393T>G NP_001158729.1:p.His131Gln NC_000015.10:51701125:T:G p.(His131Gln) NC_000015.10:51701125:T:G p.(His131Gln) NC_000015.10:51701125:T:G Identity +NM_000226.4:c.349G>A NP_000217.2:p.Gly117Ser NC_000017.11:41571643:C:T p.(Gly117Ser) NC_000017.11:41571643:C:T p.(Gly117Ser) NC_000017.11:41571643:C:T Identity +NM_001258288.2:c.214G>C NP_001245217.1:p.Ala72Pro NC_000001.11:151368279:C:G p.(Ala72Pro) NC_000001.11:151368279:C:G p.(Ala72Pro) NC_000001.11:151368279:C:G Identity +NM_001083907.3:c.2185T>C NP_001077376.3:p.Tyr729His NC_000004.12:102072376:T:C p.(Tyr729His) NC_000004.12:102072376:T:C p.(Tyr729His) NC_000004.12:102072376:T:C Identity +NM_018429.3:c.2531C>T NP_060899.2:p.Ala844Val NC_000005.10:71509622:C:T p.(Ala844Val) NC_000005.10:71509622:C:T p.(Ala844Val) NC_000005.10:71509622:C:T Identity +NM_001164586.2:c.3577G>A NP_001158058.1:p.Ala1193Thr NC_000001.11:201208469:G:A p.(Ala1193Thr) NC_000001.11:201208469:G:A p.(Ala1193Thr) NC_000001.11:201208469:G:A Identity +NM_005762.3:c.2204G>C NP_005753.1:p.Gly735Ala NC_000019.10:58550156:G:C p.(Gly735Ala) NC_000019.10:58550156:G:C p.(Gly735Ala) NC_000019.10:58550156:G:C Identity +NM_001004708.1:c.490C>T NP_001004708.1:p.Leu164Phe NC_000011.10:59457449:C:T p.(Leu164Phe) NC_000011.10:59457449:C:T p.(Leu164Phe) NC_000011.10:59457449:C:T Identity +NM_001195626.3:c.1870A>G NP_001182555.1:p.Thr624Ala NC_000010.11:21713941:A:G p.(Thr624Ala) NC_000010.11:21713941:A:G p.(Thr624Ala) NC_000010.11:21713941:A:G Identity +NM_001134476.2:c.218T>C NP_001127948.1:p.Leu73Pro NC_000001.11:89582867:T:C p.(Leu73Pro) NC_000001.11:89582867:T:C p.(Leu73Pro) NC_000001.11:89582867:T:C Identity +NM_001078.4:c.1012A>G NP_001069.1:p.Met338Val NC_000001.11:100729189:A:G p.(Met338Val) NC_000001.11:100729189:A:G p.(Met338Val) NC_000001.11:100729189:A:G Identity +NM_001351610.1:c.655A>C NP_001338539.1:p.Ile219Leu NC_000018.10:54280887:A:C p.(Ile219Leu) NC_000018.10:54280887:A:C p.(Ile219Leu) NC_000018.10:54280887:A:C Identity +NM_001126111.3:c.1580G>A NP_001119583.1:p.Arg527His NC_000008.11:89925461:G:A p.(Arg527His) NC_000008.11:89925461:G:A p.(Arg527His) NC_000008.11:89925461:G:A Identity +NM_001164664.2:c.5644G>A NP_001158136.1:p.Gly1882Ser NC_000005.10:67164822:G:A p.(Gly1882Ser) NC_000005.10:67164822:G:A p.(Gly1882Ser) NC_000005.10:67164822:G:A Identity +NM_001184819.2:c.733C>T NP_001171748.1:p.Arg245Cys NC_000023.11:54548330:C:T p.(Arg245Cys) NC_000023.11:54548330:C:T p.(Arg245Cys) NC_000023.11:54548330:C:T Identity +NM_134444.5:c.987A>C NP_604393.2:p.Arg329Ser NC_000019.10:55858379:A:C p.(Arg329Ser) NC_000019.10:55858379:A:C p.(Arg329Ser) NC_000019.10:55858379:A:C Identity +NM_001284274.3:c.31G>T NP_001271203.2:p.Ala11Ser NC_000010.11:91410468:G:T p.(Ala11Ser) NC_000010.11:91410468:G:T p.(Ala11Ser) NC_000010.11:91410468:G:T Identity +NM_001145320.2:c.650C>T NP_001138792.1:p.Thr217Met NC_000009.12:133540968:C:T p.(Thr217Met) NC_000009.12:133540968:C:T p.(Thr217Met) NC_000009.12:133540968:C:T Identity +NM_001004688.2:c.200C>G NP_001004688.1:p.Ser67Cys NC_000001.11:248180184:C:G p.(Ser67Cys) NC_000001.11:248180184:C:G p.(Ser67Cys) NC_000001.11:248180184:C:G Identity +NM_001135032.2:c.124G>C NP_001128504.1:p.Val42Leu NC_000002.12:75493570:C:G p.(Val42Leu) NC_000002.12:75493570:C:G p.(Val42Leu) NC_000002.12:75493570:C:G Identity +NM_001166663.2:c.223C>A NP_001160135.1:p.Pro75Thr NC_000001.11:160841739:G:T p.(Pro75Thr) NC_000001.11:160841739:G:T p.(Pro75Thr) NC_000001.11:160841739:G:T Identity +NM_001278233.2:c.397G>T NP_001265162.1:p.Gly133Cys NC_000003.12:8548795:G:T p.(Gly133Cys) NC_000003.12:8548795:G:T p.(Gly133Cys) NC_000003.12:8548795:G:T Identity +NM_022078.3:c.177G>T NP_071361.2:p.Gln59His NC_000001.11:26900265:C:A p.(Gln59His) NC_000001.11:26900265:C:A p.(Gln59His) NC_000001.11:26900265:C:A Identity +NM_001193489.2:c.1429T>A NP_001180418.1:p.Ser477Thr NC_000015.10:49016691:A:T p.(Ser477Thr) NC_000015.10:49016691:A:T p.(Ser477Thr) NC_000015.10:49016691:A:T Identity +NM_014224.5:c.884G>A NP_055039.1:p.Ser295Asn NC_000011.10:61249778:G:A p.(Ser295Asn) NC_000011.10:61249778:G:A p.(Ser295Asn) NC_000011.10:61249778:G:A Identity +NM_001199037.2:c.592G>A NP_001185966.1:p.Glu198Lys NC_000001.11:31425882:G:A p.(Glu198Lys) NC_000001.11:31425882:G:A p.(Glu198Lys) NC_000001.11:31425882:G:A Identity +NM_001190707.2:c.2137G>A NP_001177636.1:p.Ala713Thr NC_000003.12:46676293:C:T p.(Ala713Thr) NC_000003.12:46676293:C:T p.(Ala713Thr) NC_000003.12:46676293:C:T Identity +NM_182559.3:c.658G>A NP_872365.2:p.Ala220Thr NC_000012.12:50885250:G:A p.(Ala220Thr) NC_000012.12:50885250:G:A p.(Ala220Thr) NC_000012.12:50885250:G:A Identity +NM_002639.5:c.608C>T NP_002630.2:p.Thr203Met NC_000018.10:63499159:C:T p.(Thr203Met) NC_000018.10:63499159:C:T p.(Thr203Met) NC_000018.10:63499159:C:T Identity +NM_001135608.3:c.1735G>C NP_001129080.1:p.Ala579Pro NC_000005.10:143134002:G:C p.(Ala579Pro) NC_000005.10:143134002:G:C p.(Ala579Pro) NC_000005.10:143134002:G:C Identity +NM_001098537.3:c.1810A>G NP_001092007.2:p.Lys604Glu NC_000009.12:137498192:T:C p.(Lys604Glu) NC_000009.12:137498192:T:C p.(Lys604Glu) NC_000009.12:137498192:T:C Identity +NM_001014972.3:c.3436C>T NP_001014972.1:p.Pro1146Ser NC_000002.12:71422949:C:T p.(Pro1146Ser) NC_000002.12:71422949:C:T p.(Pro1146Ser) NC_000002.12:71422949:C:T Identity +NM_016453.4:c.137G>A NP_057537.1:p.Gly46Asp NC_000003.12:48685670:C:T p.(Gly46Asp) NC_000003.12:48685670:C:T p.(Gly46Asp) NC_000003.12:48685670:C:T Identity +NM_000441.2:c.104A>T NP_000432.1:p.Gln35Leu NC_000007.14:107661744:A:T p.(Gln35Leu) NC_000007.14:107661744:A:T p.(Gln35Leu) NC_000007.14:107661744:A:T Identity +NM_012455.3:c.415C>T NP_036587.2:p.His139Tyr NC_000002.12:113182870:C:T p.(His139Tyr) NC_000002.12:113182870:C:T p.(His139Tyr) NC_000002.12:113182870:C:T Identity +NM_001111038.2:c.703C>A NP_001104508.1:p.Pro235Thr NC_000007.14:102963553:G:T p.(Pro235Thr) NC_000007.14:102963553:G:T p.(Pro235Thr) NC_000007.14:102963553:G:T Identity +NM_001321431.2:c.7483C>T NP_001308360.1:p.Pro2495Ser NC_000019.10:8075381:G:A p.(Pro2495Ser) NC_000019.10:8075381:G:A p.(Pro2495Ser) NC_000019.10:8075381:G:A Identity +NM_018130.3:c.71C>A NP_060600.2:p.Ala24Asp NC_000003.12:72848269:G:T p.(Ala24Asp) NC_000003.12:72848269:G:T p.(Ala24Asp) NC_000003.12:72848269:G:T Identity +NM_025130.4:c.1960G>A NP_079406.4:p.Val654Met NC_000010.11:69257353:G:A p.(Val654Met) NC_000010.11:69257353:G:A p.(Val654Met) NC_000010.11:69257353:G:A Identity +NM_014611.3:c.14971G>A NP_055426.1:p.Asp4991Asn NC_000006.12:89658659:C:T p.(Asp4991Asn) NC_000006.12:89658659:C:T p.(Asp4991Asn) NC_000006.12:89658659:C:T Identity +NM_001317748.2:c.1804G>A NP_001304677.1:p.Gly602Arg NC_000008.11:98021311:G:A p.(Gly602Arg) NC_000008.11:98021311:G:A p.(Gly602Arg) NC_000008.11:98021311:G:A Identity +NM_001004696.2:c.320T>A NP_001004696.2:p.Phe107Tyr NC_000001.11:248361983:T:A p.(Phe107Tyr) NC_000001.11:248361983:T:A p.(Phe107Tyr) NC_000001.11:248361983:T:A Identity +NM_001700.5:c.472C>T NP_001691.1:p.Arg158Cys NC_000019.10:830818:C:T p.(Arg158Cys) NC_000019.10:830818:C:T p.(Arg158Cys) NC_000019.10:830818:C:T Identity +NM_001001344.3:c.1189G>A NP_001001344.1:p.Val397Met NC_000023.11:153548704:G:A p.(Val397Met) NC_000023.11:153548704:G:A p.(Val397Met) NC_000023.11:153548704:G:A Identity +NM_001330179.2:c.34C>G NP_001317108.1:p.Leu12Val NC_000002.12:241097349:G:C p.(Leu12Val) NC_000002.12:241097349:G:C p.(Leu12Val) NC_000002.12:241097349:G:C Identity +NM_052846.2:c.168G>T NP_443078.1:p.Lys56Asn NC_000020.11:41365156:C:A p.(Lys56Asn) NC_000020.11:41365156:C:A p.(Lys56Asn) NC_000020.11:41365156:C:A Identity +NM_173800.5:c.811G>C NP_776161.3:p.Val271Leu NC_000005.10:115983401:G:C p.(Val271Leu) NC_000005.10:115983401:G:C p.(Val271Leu) NC_000005.10:115983401:G:C Identity +NM_003887.3:c.2456G>A NP_003878.1:p.Arg819Gln NC_000002.12:9391133:G:A p.(Arg819Gln) NC_000002.12:9391133:G:A p.(Arg819Gln) NC_000002.12:9391133:G:A Identity +NM_001253829.2:c.844A>T NP_001240758.1:p.Ile282Leu NC_000009.12:94097409:A:T p.(Ile282Leu) NC_000009.12:94097409:A:T p.(Ile282Leu) NC_000009.12:94097409:A:T Identity +NM_152657.4:c.976C>A NP_689870.3:p.Pro326Thr NC_000019.10:38386285:G:T p.(Pro326Thr) NC_000019.10:38386285:G:T p.(Pro326Thr) NC_000019.10:38386285:G:T Identity +NM_000025.3:c.49C>T NP_000016.1:p.Leu17Phe NC_000008.11:37966420:G:A p.(Leu17Phe) NC_000008.11:37966420:G:A p.(Leu17Phe) NC_000008.11:37966420:G:A Identity +NM_015030.2:c.4973A>G NP_055845.1:p.Asn1658Ser NC_000004.12:48547684:T:C p.(Asn1658Ser) NC_000004.12:48547684:T:C p.(Asn1658Ser) NC_000004.12:48547684:T:C Identity +NM_018909.4:c.333C>A NP_061732.1:p.Asp111Glu NC_000005.10:140828423:C:A p.(Asp111Glu) NC_000005.10:140828423:C:A p.(Asp111Glu) NC_000005.10:140828423:C:A Identity +NM_001113361.2:c.60T>G NP_001106832.1:p.Asp20Glu NC_000004.12:6923448:T:G p.(Asp20Glu) NC_000004.12:6923448:T:G p.(Asp20Glu) NC_000004.12:6923448:T:G Identity +NM_018922.3:c.66G>T NP_061745.1:p.Leu22Phe NC_000005.10:141350325:G:T p.(Leu22Phe) NC_000005.10:141350325:G:T p.(Leu22Phe) NC_000005.10:141350325:G:T Identity +NM_025138.5:c.2194G>A NP_079414.3:p.Ala732Thr NC_000013.11:39013057:C:T p.(Ala732Thr) NC_000013.11:39013057:C:T p.(Ala732Thr) NC_000013.11:39013057:C:T Identity +NM_006887.5:c.1232C>T NP_008818.3:p.Ala411Val NC_000002.12:43224571:G:A p.(Ala411Val) NC_000002.12:43224571:G:A p.(Ala411Val) NC_000002.12:43224571:G:A Identity +NM_175619.3:c.304G>C NP_783318.1:p.Gly102Arg NC_000004.12:48490594:G:C p.(Gly102Arg) NC_000004.12:48490594:G:C p.(Gly102Arg) NC_000004.12:48490594:G:C Identity +NM_001244580.2:c.8639T>C NP_001231509.1:p.Met2880Thr NC_000007.14:98981793:T:C p.(Met2880Thr) NC_000007.14:98981793:T:C p.(Met2880Thr) NC_000007.14:98981793:T:C Identity +NM_001300865.2:c.52G>C NP_001287794.1:p.Val18Leu NC_000019.10:5957943:C:G p.(Val18Leu) NC_000019.10:5957943:C:G p.(Val18Leu) NC_000019.10:5957943:C:G Identity +NM_004041.5:c.244G>A NP_004032.2:p.Ala82Thr NC_000011.10:75283396:C:T p.(Ala82Thr) NC_000011.10:75283396:C:T p.(Ala82Thr) NC_000011.10:75283396:C:T Identity +NM_001291941.3:c.365T>C NP_001278870.1:p.Ile122Thr NC_000003.12:62333366:T:C p.(Ile122Thr) NC_000003.12:62333366:T:C p.(Ile122Thr) NC_000003.12:62333366:T:C Identity +NM_001300832.3:c.56G>A NP_001287761.1:p.Arg19Gln NC_000011.10:65387091:G:A p.(Arg19Gln) NC_000011.10:65387091:G:A p.(Arg19Gln) NC_000011.10:65387091:G:A Identity +NM_001170794.2:c.446G>A NP_001164265.1:p.Cys149Tyr NC_000006.12:89951659:C:T p.(Cys149Tyr) NC_000006.12:89951659:C:T p.(Cys149Tyr) NC_000006.12:89951659:C:T Identity +NM_001098817.2:c.142T>G NP_001092287.1:p.Ser48Ala NC_000018.10:35497732:A:C p.(Ser48Ala) NC_000018.10:35497732:A:C p.(Ser48Ala) NC_000018.10:35497732:A:C Identity +NM_001276457.2:c.226A>G NP_001263386.1:p.Met76Val NC_000004.12:139071985:T:C p.(Met76Val) NC_000004.12:139071985:T:C p.(Met76Val) NC_000004.12:139071985:T:C Identity +NM_001080481.3:c.403T>A NP_001073950.1:p.Ser135Thr NC_000006.12:99503839:A:T p.(Ser135Thr) NC_000006.12:99503839:A:T p.(Ser135Thr) NC_000006.12:99503839:A:T Identity +NM_001330367.2:c.287C>T NP_001317296.1:p.Thr96Ile NC_000012.12:28306760:C:T p.(Thr96Ile) NC_000012.12:28306760:C:T p.(Thr96Ile) NC_000012.12:28306760:C:T Identity +NM_001193431.3:c.860T>C NP_001180360.2:p.Leu287Ser NC_000001.11:113848594:A:G p.(Leu287Ser) NC_000001.11:113848594:A:G p.(Leu287Ser) NC_000001.11:113848594:A:G Identity +NM_001252675.2:c.661C>G NP_001239604.1:p.Gln221Glu NC_000020.11:25023611:G:C p.(Gln221Glu) NC_000020.11:25023611:G:C p.(Gln221Glu) NC_000020.11:25023611:G:C Identity +NM_018046.5:c.1694T>C NP_060516.2:p.Ile565Thr NC_000005.10:77055573:T:C p.(Ile565Thr) NC_000005.10:77055573:T:C p.(Ile565Thr) NC_000005.10:77055573:T:C Identity +NM_021240.4:c.1285G>A NP_067063.1:p.Ala429Thr NC_000009.12:990870:G:A p.(Ala429Thr) NC_000009.12:990870:G:A p.(Ala429Thr) NC_000009.12:990870:G:A Identity +NM_001114.5:c.139G>A NP_001105.1:p.Val47Met NC_000016.10:50288317:G:A p.(Val47Met) NC_000016.10:50288317:G:A p.(Val47Met) NC_000016.10:50288317:G:A Identity +NM_001202431.2:c.184A>G NP_001189360.1:p.Arg62Gly NC_000001.11:45515729:T:C p.(Arg62Gly) NC_000001.11:45515729:T:C p.(Arg62Gly) NC_000001.11:45515729:T:C Identity +NM_001286423.2:c.124G>C NP_001273352.1:p.Asp42His NC_000002.12:219243262:C:G p.(Asp42His) NC_000002.12:219243262:C:G p.(Asp42His) NC_000002.12:219243262:C:G Identity +NM_001025231.3:c.686C>T NP_001020402.1:p.Pro229Leu NC_000001.11:152760273:C:T p.(Pro229Leu) NC_000001.11:152760273:C:T p.(Pro229Leu) NC_000001.11:152760273:C:T Identity +NM_001127266.2:c.448C>T NP_001120738.1:p.Arg150Trp NC_000004.12:1718383:G:A p.(Arg150Trp) NC_000004.12:1718383:G:A p.(Arg150Trp) NC_000004.12:1718383:G:A Identity +NM_003458.4:c.1611G>C NP_003449.2:p.Gln537His NC_000003.12:49650703:G:C p.(Gln537His) NC_000003.12:49650703:G:C p.(Gln537His) NC_000003.12:49650703:G:C Identity +NM_017994.5:c.514G>A NP_060464.1:p.Ala172Thr NC_000007.14:66948611:G:A p.(Ala172Thr) NC_000007.14:66948611:G:A p.(Ala172Thr) NC_000007.14:66948611:G:A Identity +NM_014427.5:c.710G>A NP_055242.1:p.Arg237Gln NC_000016.10:89584079:G:A p.(Arg237Gln) NC_000016.10:89584079:G:A p.(Arg237Gln) NC_000016.10:89584079:G:A Identity +NM_002568.4:c.1522G>A NP_002559.2:p.Val508Ile NC_000008.11:100706730:C:T p.(Val508Ile) NC_000008.11:100706730:C:T p.(Val508Ile) NC_000008.11:100706730:C:T Identity +NM_033262.5:c.685G>A NP_150287.1:p.Val229Ile NC_000014.9:70167737:C:T p.(Val229Ile) NC_000014.9:70167737:C:T p.(Val229Ile) NC_000014.9:70167737:C:T Identity +NM_007058.4:c.1066G>A NP_008989.2:p.Gly356Arg NC_000006.12:44176644:G:A p.(Gly356Arg) NC_000006.12:44176644:G:A p.(Gly356Arg) NC_000006.12:44176644:G:A Identity +NM_006844.5:c.1031C>T NP_006835.2:p.Ala344Val NC_000019.10:15119185:G:A p.(Ala344Val) NC_000019.10:15119185:G:A p.(Ala344Val) NC_000019.10:15119185:G:A Identity +NM_001278270.2:c.479C>T NP_001265199.1:p.Pro160Leu NC_000003.12:9789593:G:A p.(Pro160Leu) NC_000003.12:9789593:G:A p.(Pro160Leu) NC_000003.12:9789593:G:A Identity +NM_001017371.5:c.2036G>A NP_001017371.3:p.Gly679Glu NC_000002.12:173910046:C:T p.(Gly679Glu) NC_000002.12:173910046:C:T p.(Gly679Glu) NC_000002.12:173910046:C:T Identity +NM_012467.4:c.83G>A NP_036599.4:p.Arg28Gln NC_000016.10:1223584:C:T p.(Arg28Gln) NC_000016.10:1223584:C:T p.(Arg28Gln) NC_000016.10:1223584:C:T Identity +NM_001199080.4:c.998G>A NP_001186009.2:p.Arg333His NC_000001.11:53078507:G:A p.(Arg333His) NC_000001.11:53078507:G:A p.(Arg333His) NC_000001.11:53078507:G:A Identity +NM_001330593.2:c.972C>A NP_001317522.1:p.Ser324Arg NC_000008.11:101599072:C:A p.(Ser324Arg) NC_000008.11:101599072:C:A p.(Ser324Arg) NC_000008.11:101599072:C:A Identity +NM_001162407.1:c.146C>G NP_001155879.1:p.Thr49Ser NC_000002.12:200861842:G:C p.(Thr49Ser) NC_000002.12:200861842:G:C p.(Thr49Ser) NC_000002.12:200861842:G:C Identity +NM_005172.2:c.731A>G NP_005163.1:p.Tyr244Cys NC_000004.12:93829656:A:G p.(Tyr244Cys) NC_000004.12:93829656:A:G p.(Tyr244Cys) NC_000004.12:93829656:A:G Identity +NM_020759.3:c.6124A>G NP_065810.2:p.Asn2042Asp NC_000015.10:42687701:A:G p.(Asn2042Asp) NC_000015.10:42687701:A:G p.(Asn2042Asp) NC_000015.10:42687701:A:G Identity +NM_002031.3:c.688G>A NP_002022.1:p.Asp230Asn NC_000006.12:115967661:C:T p.(Asp230Asn) NC_000006.12:115967661:C:T p.(Asp230Asn) NC_000006.12:115967661:C:T Identity +NM_001130487.2:c.223C>T NP_001123959.1:p.Arg75Trp NC_000016.10:58503842:C:T p.(Arg75Trp) NC_000016.10:58503842:C:T p.(Arg75Trp) NC_000016.10:58503842:C:T Identity +NM_001080541.3:c.207T>G NP_001074010.2:p.Asp69Glu NC_000015.10:41669100:T:G p.(Asp69Glu) NC_000015.10:41669100:T:G p.(Asp69Glu) NC_000015.10:41669100:T:G Identity +NM_001102559.2:c.59T>A NP_001096029.1:p.Leu20Gln NC_000008.11:38269140:A:T p.(Leu20Gln) NC_000008.11:38269140:A:T p.(Leu20Gln) NC_000008.11:38269140:A:T Identity +NM_003145.4:c.230A>G NP_003136.1:p.Asn77Ser NC_000001.11:156018293:T:C p.(Asn77Ser) NC_000001.11:156018293:T:C p.(Asn77Ser) NC_000001.11:156018293:T:C Identity +NM_001256024.2:c.1628G>A NP_001242953.1:p.Ser543Asn NC_000010.11:48450548:C:T p.(Ser543Asn) NC_000010.11:48450548:C:T p.(Ser543Asn) NC_000010.11:48450548:C:T Identity +NM_001278794.2:c.890T>C NP_001265723.1:p.Ile297Thr NC_000010.11:46461745:A:G p.(Ile297Thr) NC_000010.11:46461745:A:G p.(Ile297Thr) NC_000010.11:46461745:A:G Identity +NM_001282855.2:c.1178G>A NP_001269784.1:p.Arg393Gln NC_000007.14:123496751:C:T p.(Arg393Gln) NC_000007.14:123496751:C:T p.(Arg393Gln) NC_000007.14:123496751:C:T Identity +NM_001104538.1:c.554G>A NP_001098008.1:p.Arg185His NC_000011.10:3660072:G:A ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found ERR:AlignmentMapper(tx_ac=NM_001104538.1, alt_ac=NM_001104538.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001104538.1, alt_ac=NM_001104538.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001104538.1 not found +NM_001272042.2:c.123G>C NP_001258971.1:p.Glu41Asp NC_000017.11:59893306:G:C p.(Glu41Asp) NC_000017.11:59893306:G:C p.(Glu41Asp) NC_000017.11:59893306:G:C Identity +NM_199340.5:c.1312G>A NP_955372.2:p.Ala438Thr NC_000017.11:64895945:C:T p.(Ala438Thr) NC_000017.11:64895945:C:T p.(Ala438Thr) NC_000017.11:64895945:C:T Identity +NM_001130960.2:c.4906G>A NP_001124432.1:p.Ala1636Thr NC_000003.12:155481143:C:T p.(Ala1636Thr) NC_000003.12:155481143:C:T p.(Ala1636Thr) NC_000003.12:155481143:C:T Identity +NM_006598.3:c.163A>G NP_006589.2:p.Asn55Asp NC_000005.10:1094209:T:C p.(Asn55Asp) NC_000005.10:1094209:T:C p.(Asn55Asp) NC_000005.10:1094209:T:C Identity +NM_001004329.3:c.339C>G NP_001004329.2:p.Asp113Glu NC_000012.12:45050588:G:C p.(Asp113Glu) NC_000012.12:45050588:G:C p.(Asp113Glu) NC_000012.12:45050588:G:C Identity +NM_144666.3:c.671C>T NP_653267.2:p.Ala224Val NC_000011.10:6498885:C:T p.(Ala224Val) NC_000011.10:6498885:C:T p.(Ala224Val) NC_000011.10:6498885:C:T Identity +NM_001318246.2:c.1004A>G NP_001305175.1:p.Tyr335Cys NC_000007.14:137885071:T:C p.(Tyr335Cys) NC_000007.14:137885071:T:C p.(Tyr335Cys) NC_000007.14:137885071:T:C Identity +NM_001145909.2:c.1010C>T NP_001139381.1:p.Thr337Met NC_000002.12:159169315:C:T p.(Thr337Met) NC_000002.12:159169315:C:T p.(Thr337Met) NC_000002.12:159169315:C:T Identity +NM_001085354.3:c.46T>G NP_001078823.1:p.Cys16Gly NC_000023.11:106999923:A:C p.(Cys16Gly) NC_000023.11:106999923:A:C p.(Cys16Gly) NC_000023.11:106999923:A:C Identity +NM_173546.3:c.787C>T NP_775817.1:p.Arg263Cys NC_000003.12:49175081:C:T p.(Arg263Cys) NC_000003.12:49175081:C:T p.(Arg263Cys) NC_000003.12:49175081:C:T Identity +NM_019112.4:c.1000C>T NP_061985.2:p.Arg334Trp NC_000019.10:1043793:C:T p.(Arg334Trp) NC_000019.10:1043793:C:T p.(Arg334Trp) NC_000019.10:1043793:C:T Identity +NM_001099678.2:c.1088G>A NP_001093148.1:p.Arg363His NC_000003.12:120331227:C:T p.(Arg363His) NC_000003.12:120331227:C:T p.(Arg363His) NC_000003.12:120331227:C:T Identity +NM_001010855.4:c.1756C>T NP_001010855.1:p.Pro586Ser NC_000017.11:8822618:G:A p.(Pro586Ser) NC_000017.11:8822618:G:A p.(Pro586Ser) NC_000017.11:8822618:G:A Identity +NM_005975.4:c.1349C>G NP_005966.1:p.Pro450Arg NC_000020.11:63529542:G:C p.(Pro450Arg) NC_000020.11:63529542:G:C p.(Pro450Arg) NC_000020.11:63529542:G:C Identity +NM_001206567.2:c.944A>T NP_001193496.1:p.Lys315Ile NC_000001.11:159020479:A:T p.(Lys315Ile) NC_000001.11:159020479:A:T p.(Lys315Ile) NC_000001.11:159020479:A:T Identity +NM_020655.4:c.1687C>T NP_065706.2:p.Arg563Cys NC_000016.10:87690046:C:T p.(Arg563Cys) NC_000016.10:87690046:C:T p.(Arg563Cys) NC_000016.10:87690046:C:T Identity +NM_001367906.1:c.728C>T NP_001354835.1:p.Ser243Leu NC_000011.10:62578992:G:A p.(Ser243Leu) NC_000011.10:62578992:G:A p.(Ser243Leu) NC_000011.10:62578992:G:A Identity +NM_001101421.4:c.1723A>G NP_001094891.4:p.Thr575Ala NC_000012.12:109424825:A:G p.(Thr575Ala) NC_000012.12:109424825:A:G p.(Thr575Ala) NC_000012.12:109424825:A:G Identity +NM_001005335.2:c.1064C>A NP_001005335.1:p.Pro355Gln NC_000019.10:38838490:G:T p.(Pro355Gln) NC_000019.10:38838490:G:T p.(Pro355Gln) NC_000019.10:38838490:G:T Identity +NM_001278791.2:c.670A>G NP_001265720.1:p.Met224Val NC_000007.14:74232197:T:C p.(Met224Val) NC_000007.14:74232197:T:C p.(Met224Val) NC_000007.14:74232197:T:C Identity +NM_000953.3:c.290C>T NP_000944.1:p.Ala97Val NC_000014.9:52268103:C:T p.(Ala97Val) NC_000014.9:52268103:C:T p.(Ala97Val) NC_000014.9:52268103:C:T Identity +NM_001281528.2:c.191C>T NP_001268457.1:p.Pro64Leu NC_000014.9:24137375:C:T p.(Pro64Leu) NC_000014.9:24137375:C:T p.(Pro64Leu) NC_000014.9:24137375:C:T Identity +NM_001330492.2:c.607G>A NP_001317421.1:p.Val203Met NC_000012.12:122206932:G:A p.(Val203Met) NC_000012.12:122206932:G:A p.(Val203Met) NC_000012.12:122206932:G:A Identity +NM_001351059.2:c.1570C>T NP_001337988.1:p.Pro524Ser NC_000011.10:68050789:C:T p.(Pro524Ser) NC_000011.10:68050789:C:T p.(Pro524Ser) NC_000011.10:68050789:C:T Identity +NM_182552.5:c.629T>G NP_872358.4:p.Leu210Arg NC_000006.12:169668012:A:C p.(Leu210Arg) NC_000006.12:169668012:A:C p.(Leu210Arg) NC_000006.12:169668012:A:C Identity +NM_012345.3:c.346A>G NP_036477.2:p.Thr116Ala NC_000013.11:44989090:T:C p.(Thr116Ala) NC_000013.11:44989090:T:C p.(Thr116Ala) NC_000013.11:44989090:T:C Identity +NM_000327.4:c.352G>A NP_000318.2:p.Gly118Ser NC_000011.10:62613632:G:A p.(Gly118Ser) NC_000011.10:62613632:G:A p.(Gly118Ser) NC_000011.10:62613632:G:A Identity +NM_032142.4:c.401G>A NP_115518.3:p.Gly134Glu NC_000018.10:13008565:G:A p.(Gly134Glu) NC_000018.10:13008565:G:A p.(Gly134Glu) NC_000018.10:13008565:G:A Identity +NM_001077351.2:c.140A>G NP_001070819.1:p.Asn47Ser NC_000014.9:22909521:T:C p.(Asn47Ser) NC_000014.9:22909521:T:C p.(Asn47Ser) NC_000014.9:22909521:T:C Identity +NM_001080429.3:c.3382C>T NP_001073898.1:p.Pro1128Ser NC_000019.10:7617413:C:T p.(Pro1128Ser) NC_000019.10:7617413:C:T p.(Pro1128Ser) NC_000019.10:7617413:C:T Identity +NM_001017930.2:c.1675G>A NP_001017930.1:p.Ala559Thr NC_000023.11:27979659:C:T p.(Ala559Thr) NC_000023.11:27979659:C:T p.(Ala559Thr) NC_000023.11:27979659:C:T Identity +NM_012435.3:c.1237C>G NP_036567.2:p.Leu413Val NC_000019.10:425168:G:C p.(Leu413Val) NC_000019.10:425168:G:C p.(Leu413Val) NC_000019.10:425168:G:C Identity +NM_001363608.1:c.542G>A NP_001350537.1:p.Arg181His NC_000019.10:12319482:C:T p.(Arg181His) NC_000019.10:12319482:C:T p.(Arg181His) NC_000019.10:12319482:C:T Identity +NM_173569.4:c.1822A>G NP_775840.3:p.Thr608Ala NC_000007.14:139273402:A:G p.(Thr608Ala) NC_000007.14:139273402:A:G p.(Thr608Ala) NC_000007.14:139273402:A:G Identity +NM_152718.2:c.2291G>A NP_689931.2:p.Ser764Asn NC_000011.10:61259251:C:T p.(Ser764Asn) NC_000011.10:61259251:C:T p.(Ser764Asn) NC_000011.10:61259251:C:T Identity +NM_001037872.3:c.478A>G NP_001032961.1:p.Ile160Val NC_000002.12:99442341:T:C p.(Ile160Val) NC_000002.12:99442341:T:C p.(Ile160Val) NC_000002.12:99442341:T:C Identity +NM_001363551.2:c.103G>A NP_001350480.1:p.Gly35Arg NC_000016.10:68245528:G:A p.(Gly35Arg) NC_000016.10:68245528:G:A p.(Gly35Arg) NC_000016.10:68245528:G:A Identity +NM_003446.4:c.1442G>A NP_003437.2:p.Arg481Gln NC_000023.11:47413514:G:A p.(Arg481Gln) NC_000023.11:47413514:G:A p.(Arg481Gln) NC_000023.11:47413514:G:A Identity +NM_014275.5:c.833G>A NP_055090.1:p.Ser278Asn NC_000005.10:179800030:C:T p.(Ser278Asn) NC_000005.10:179800030:C:T p.(Ser278Asn) NC_000005.10:179800030:C:T Identity +NM_001097589.2:c.427G>A NP_001091058.1:p.Val143Met NC_000001.11:153003446:G:A p.(Val143Met) NC_000001.11:153003446:G:A p.(Val143Met) NC_000001.11:153003446:G:A Identity +NM_001367447.1:c.2869G>A NP_001354376.1:p.Gly957Ser NC_000010.11:24600878:C:T p.(Gly957Ser) NC_000010.11:24600878:C:T p.(Gly957Ser) NC_000010.11:24600878:C:T Identity +NM_001387556.1:c.82G>T NP_001374485.1:p.Ala28Ser NC_000010.11:107164444:C:A p.(Ala28Ser) NC_000010.11:107164444:C:A p.(Ala28Ser) NC_000010.11:107164444:C:A Identity +NM_001007540.4:c.2221G>A NP_001007541.2:p.Glu741Lys NC_000003.12:49791775:C:T p.(Glu741Lys) NC_000003.12:49791775:C:T p.(Glu741Lys) NC_000003.12:49791775:C:T Identity +NM_001080978.4:c.1754C>T NP_001074447.2:p.Pro585Leu NC_000019.10:54274722:G:A p.(Pro585Leu) NC_000019.10:54274722:G:A p.(Pro585Leu) NC_000019.10:54274722:G:A Identity +NM_001007530.3:c.113C>T NP_001007531.1:p.Ser38Leu NC_000017.11:14236720:G:A p.(Ser38Leu) NC_000017.11:14236720:G:A p.(Ser38Leu) NC_000017.11:14236720:G:A Identity +NM_001286696.2:c.242G>A NP_001273625.1:p.Arg81Gln NC_000009.12:127435988:G:A p.(Arg81Gln) NC_000009.12:127435988:G:A p.(Arg81Gln) NC_000009.12:127435988:G:A Identity +NM_001130991.3:c.43T>C NP_001124463.1:p.Cys15Arg NC_000011.10:119056117:A:G p.(Cys15Arg) NC_000011.10:119056117:A:G p.(Cys15Arg) NC_000011.10:119056117:A:G Identity +NM_015082.2:c.343C>T NP_055897.1:p.His115Tyr NC_000005.10:133400803:G:A p.(His115Tyr) NC_000005.10:133400803:G:A p.(His115Tyr) NC_000005.10:133400803:G:A Identity +NM_001330574.2:c.2347T>A NP_001317503.1:p.Phe783Ile NC_000023.11:85271750:T:A p.(Phe783Ile) NC_000023.11:85271750:T:A p.(Phe783Ile) NC_000023.11:85271750:T:A Identity +NM_001242935.3:c.1496G>A NP_001229864.1:p.Arg499Gln NC_000005.10:122451440:G:A p.(Arg499Gln) NC_000005.10:122451440:G:A p.(Arg499Gln) NC_000005.10:122451440:G:A Identity +NM_153486.4:c.1303C>G NP_705690.2:p.Pro435Ala NC_000016.10:75112656:G:C p.(Pro435Ala) NC_000016.10:75112656:G:C p.(Pro435Ala) NC_000016.10:75112656:G:C Identity +NM_001136469.3:c.563G>A NP_001129941.1:p.Gly188Asp NC_000003.12:133380273:G:A p.(Gly188Asp) NC_000003.12:133380273:G:A p.(Gly188Asp) NC_000003.12:133380273:G:A Identity +NM_001170538.1:c.430C>T NP_001164009.1:p.Arg144Cys NC_000003.12:138103541:G:A p.(Arg144Cys) NC_000003.12:138103541:G:A p.(Arg144Cys) NC_000003.12:138103541:G:A Identity +NM_012089.3:c.41C>G NP_036221.2:p.Pro14Arg NC_000001.11:229558611:G:C p.(Pro14Arg) NC_000001.11:229558611:G:C p.(Pro14Arg) NC_000001.11:229558611:G:C Identity +NM_004559.5:c.58C>T NP_004550.2:p.Leu20Phe NC_000001.11:42682622:C:T p.(Leu20Phe) NC_000001.11:42682622:C:T p.(Leu20Phe) NC_000001.11:42682622:C:T Identity +NM_000620.5:c.1313C>A NP_000611.1:p.Thr438Asn NC_000012.12:117285309:G:T p.(Thr438Asn) NC_000012.12:117285309:G:T p.(Thr438Asn) NC_000012.12:117285309:G:T Identity +NM_002379.3:c.70C>T NP_002370.1:p.Pro24Ser NC_000001.11:30723481:G:A p.(Pro24Ser) NC_000001.11:30723481:G:A p.(Pro24Ser) NC_000001.11:30723481:G:A Identity +NM_178510.2:c.1809G>T NP_848605.1:p.Lys603Asn NC_000011.10:113399777:G:T p.(Lys603Asn) NC_000011.10:113399777:G:T p.(Lys603Asn) NC_000011.10:113399777:G:T Identity +NM_001374769.1:c.1349C>T NP_001361698.1:p.Ala450Val NC_000006.12:100393707:G:A p.(Ala450Val) NC_000006.12:100393707:G:A p.(Ala450Val) NC_000006.12:100393707:G:A Identity +NM_001278275.2:c.227A>G NP_001265204.1:p.Asn76Ser NC_000002.12:11453638:T:C p.(Asn76Ser) NC_000002.12:11453638:T:C p.(Asn76Ser) NC_000002.12:11453638:T:C Identity +NM_013368.4:c.128G>A NP_037500.2:p.Arg43His NC_000019.10:40441952:C:T p.(Arg43His) NC_000019.10:40441952:C:T p.(Arg43His) NC_000019.10:40441952:C:T Identity +NM_207322.3:c.70G>T NP_997205.2:p.Gly24Cys NC_000015.10:62067682:G:T p.(Gly24Cys) NC_000015.10:62067682:G:T p.(Gly24Cys) NC_000015.10:62067682:G:T Identity +NM_001004309.3:c.808A>G NP_001004309.2:p.Lys270Glu NC_000015.10:90360638:A:G p.(Lys270Glu) NC_000015.10:90360638:A:G p.(Lys270Glu) NC_000015.10:90360638:A:G Identity +NM_001394011.1:c.3004C>T NP_001380940.1:p.Pro1002Ser NC_000019.10:5222721:G:A p.(Pro1002Ser) NC_000019.10:5222721:G:A p.(Pro1002Ser) NC_000019.10:5222721:G:A Identity +NM_001139456.2:c.976G>T NP_001132928.1:p.Asp326Tyr NC_000007.14:138628250:C:A p.(Asp326Tyr) NC_000007.14:138628250:C:A p.(Asp326Tyr) NC_000007.14:138628250:C:A Identity +NM_138384.4:c.716A>G NP_612393.2:p.Tyr239Cys NC_000010.11:133402736:A:G p.(Tyr239Cys) NC_000010.11:133402736:A:G p.(Tyr239Cys) NC_000010.11:133402736:A:G Identity +NM_016466.6:c.37T>A NP_057550.3:p.Cys13Ser NC_000002.12:96857950:A:T p.(Cys13Ser) NC_000002.12:96857950:A:T p.(Cys13Ser) NC_000002.12:96857950:A:T Identity +NM_001077207.4:c.2917A>G NP_001070675.1:p.Thr973Ala NC_000004.12:82842190:T:C p.(Thr973Ala) NC_000004.12:82842190:T:C p.(Thr973Ala) NC_000004.12:82842190:T:C Identity +NM_020799.4:c.9G>T NP_065850.1:p.Gln3His NC_000010.11:88901716:G:T p.(Gln3His) NC_000010.11:88901716:G:T p.(Gln3His) NC_000010.11:88901716:G:T Identity +NM_001286238.2:c.880C>T NP_001273167.1:p.Leu294Phe NC_000001.11:48385337:G:A p.(Leu294Phe) NC_000001.11:48385337:G:A p.(Leu294Phe) NC_000001.11:48385337:G:A Identity +NM_001105538.2:c.1906C>T NP_001099008.1:p.Arg636Cys NC_000017.11:4545860:G:A p.(Arg636Cys) NC_000017.11:4545860:G:A p.(Arg636Cys) NC_000017.11:4545860:G:A Identity +NM_005430.4:c.876C>G NP_005421.1:p.Phe292Leu NC_000012.12:48981402:C:G p.(Phe292Leu) NC_000012.12:48981402:C:G p.(Phe292Leu) NC_000012.12:48981402:C:G Identity +NM_000721.4:c.4490T>C NP_000712.2:p.Met1497Thr NC_000001.11:181758106:T:C p.(Met1497Thr) NC_000001.11:181758106:T:C p.(Met1497Thr) NC_000001.11:181758106:T:C Identity +NM_001199642.1:c.1934C>T NP_001186571.1:p.Ser645Leu NC_000003.12:123296162:G:A p.(Ser645Leu) NC_000003.12:123296162:G:A p.(Ser645Leu) NC_000003.12:123296162:G:A Identity +NM_173545.3:c.1349A>G NP_775816.1:p.Asp450Gly NC_000002.12:68577834:A:G p.(Asp450Gly) NC_000002.12:68577834:A:G p.(Asp450Gly) NC_000002.12:68577834:A:G Identity +NM_001145311.2:c.644A>G NP_001138783.1:p.Lys215Arg NC_000015.10:89669626:T:C p.(Lys215Arg) NC_000015.10:89669626:T:C p.(Lys215Arg) NC_000015.10:89669626:T:C Identity +NM_001160372.4:c.616C>T NP_001153844.1:p.Arg206Trp NC_000008.11:140439165:G:A p.(Arg206Trp) NC_000008.11:140439165:G:A p.(Arg206Trp) NC_000008.11:140439165:G:A Identity +NM_014212.4:c.574C>G NP_055027.1:p.Arg192Gly NC_000012.12:53973814:C:G p.(Arg192Gly) NC_000012.12:53973814:C:G p.(Arg192Gly) NC_000012.12:53973814:C:G Identity +NM_015117.3:c.2497C>T NP_055932.2:p.Pro833Ser NC_000008.11:143440358:G:A p.(Pro833Ser) NC_000008.11:143440358:G:A p.(Pro833Ser) NC_000008.11:143440358:G:A Identity +NM_000796.6:c.940C>A NP_000787.2:p.Pro314Thr NC_000003.12:114131183:G:T p.(Pro314Thr) NC_000003.12:114131183:G:T p.(Pro314Thr) NC_000003.12:114131183:G:T Identity +NM_001297609.2:c.1453C>G NP_001284538.1:p.Pro485Ala NC_000001.11:27361805:G:C p.(Pro485Ala) NC_000001.11:27361805:G:C p.(Pro485Ala) NC_000001.11:27361805:G:C Identity +NM_001282167.2:c.1038G>C NP_001269096.1:p.Gln346His NC_000023.11:48517292:G:C p.(Gln346His) NC_000023.11:48517292:G:C p.(Gln346His) NC_000023.11:48517292:G:C Identity +NM_001256532.1:c.188A>C NP_001243461.1:p.Tyr63Ser NC_000001.11:155610527:A:C p.(Tyr63Ser) NC_000001.11:155610527:A:C p.(Tyr63Ser) NC_000001.11:155610527:A:C Identity +NM_001135024.2:c.1125dup NP_001128496.2:p.Gln376fs NC_000011.10:34994970:T:TT p.(Gln376SerfsTer18) NC_000011.10:34994970:T:TT p.(Gln376SerfsTer18) ERR:SPDI Analogous +NM_000499.5:c.1291C>T NP_000490.1:p.Arg431Trp NC_000015.10:74720736:G:A p.(Arg431Trp) NC_000015.10:74720736:G:A p.(Arg431Trp) NC_000015.10:74720736:G:A Identity +NM_001134473.3:c.232C>G NP_001127945.1:p.Pro78Ala NC_000016.10:85654394:C:G p.(Pro78Ala) NC_000016.10:85654394:C:G p.(Pro78Ala) NC_000016.10:85654394:C:G Identity +NM_022104.4:c.1697C>T NP_071387.1:p.Ser566Phe NC_000020.11:45947155:C:T p.(Ser566Phe) NC_000020.11:45947155:C:T p.(Ser566Phe) NC_000020.11:45947155:C:T Identity +NM_001174116.3:c.1787C>T NP_001167587.1:p.Ser596Phe NC_000015.10:51536692:G:A p.(Ser596Phe) NC_000015.10:51536692:G:A p.(Ser596Phe) NC_000015.10:51536692:G:A Identity +NM_004965.7:c.214G>A NP_004956.5:p.Glu72Lys NC_000021.9:39345186:C:T p.(Glu72Lys) NC_000021.9:39345186:C:T p.(Glu72Lys) NC_000021.9:39345186:C:T Identity +NM_001447.3:c.8845G>C NP_001438.1:p.Gly2949Arg NC_000005.10:151540760:C:G p.(Gly2949Arg) NC_000005.10:151540760:C:G p.(Gly2949Arg) NC_000005.10:151540760:C:G Identity +NM_015419.4:c.3638C>A NP_056234.2:p.Pro1213His NC_000023.11:3322046:G:T p.(Pro1213His) NC_000023.11:3322046:G:T p.(Pro1213His) NC_000023.11:3322046:G:T Identity +NM_001004699.3:c.671C>A NP_001004699.1:p.Ala224Asp NC_000019.10:8731698:C:A p.(Ala224Asp) NC_000019.10:8731698:C:A p.(Ala224Asp) NC_000019.10:8731698:C:A Identity +NM_001077261.4:c.3596C>T NP_001070729.2:p.Thr1199Ile NC_000012.12:124354159:G:A p.(Thr1199Ile) NC_000012.12:124354159:G:A p.(Thr1199Ile) NC_000012.12:124354159:G:A Identity +NM_018842.5:c.1190C>T NP_061330.2:p.Thr397Met NC_000007.14:98306489:G:A p.(Thr397Met) NC_000007.14:98306489:G:A p.(Thr397Met) NC_000007.14:98306489:G:A Identity +NM_001297734.2:c.790A>G NP_001284663.1:p.Lys264Glu NC_000019.10:57909484:T:C p.(Lys264Glu) NC_000019.10:57909484:T:C p.(Lys264Glu) NC_000019.10:57909484:T:C Identity +NM_001136035.4:c.1254C>A NP_001129507.1:p.Asn418Lys NC_000019.10:13109606:G:T p.(Asn418Lys) NC_000019.10:13109606:G:T p.(Asn418Lys) NC_000019.10:13109606:G:T Identity +NM_001184896.1:c.1342G>A NP_001171825.1:p.Ala448Thr NC_000023.11:53995781:C:T p.(Ala448Thr) NC_000023.11:53995781:C:T p.(Ala448Thr) NC_000023.11:53995781:C:T Identity +NM_001363711.2:c.623A>C NP_001350640.1:p.Asp208Ala NC_000015.10:45111475:T:G p.(Asp208Ala) NC_000015.10:45111475:T:G p.(Asp208Ala) NC_000015.10:45111475:T:G Identity +NM_181808.4:c.1192C>T NP_861524.2:p.Arg398Cys NC_000004.12:2176321:G:A p.(Arg398Cys) NC_000004.12:2176321:G:A p.(Arg398Cys) NC_000004.12:2176321:G:A Identity +NM_001304808.3:c.3115G>A NP_001291737.1:p.Ala1039Thr NC_000022.11:49777039:C:T p.(Ala1039Thr) NC_000022.11:49777039:C:T p.(Ala1039Thr) NC_000022.11:49777039:C:T Identity +NM_001288729.2:c.1494T>G NP_001275658.1:p.Cys498Trp NC_000009.12:87649985:T:G p.(Cys498Trp) NC_000009.12:87649985:T:G p.(Cys498Trp) NC_000009.12:87649985:T:G Identity +NM_001040653.4:c.170A>C NP_001035743.1:p.Glu57Ala NC_000003.12:126475695:T:G p.(Glu57Ala) NC_000003.12:126475695:T:G p.(Glu57Ala) NC_000003.12:126475695:T:G Identity +NM_014810.5:c.2156C>T NP_055625.4:p.Pro719Leu NC_000001.11:180015951:C:T p.(Pro719Leu) NC_000001.11:180015951:C:T p.(Pro719Leu) NC_000001.11:180015951:C:T Identity +NM_001317231.2:c.317C>T NP_001304160.1:p.Pro106Leu NC_000011.10:47634723:G:A p.(Pro106Leu) NC_000011.10:47634723:G:A p.? NC_000011.10:47634723:G:A Identity +NM_001142597.2:c.397C>G NP_001136069.1:p.Leu133Val NC_000011.10:57659872:C:G p.(Leu133Val) NC_000011.10:57659872:C:G p.(Leu133Val) NC_000011.10:57659872:C:G Identity +NM_033071.5:c.21963G>C NP_149062.2:p.Arg7321Ser NC_000006.12:152218271:C:G p.(Arg7321Ser) NC_000006.12:152218271:C:G p.(Arg7321Ser) NC_000006.12:152218271:C:G Identity +NM_001197020.2:c.407T>C NP_001183949.1:p.Ile136Thr NC_000008.11:10531353:T:C p.(Ile136Thr) NC_000008.11:10531353:T:C p.(Ile136Thr) NC_000008.11:10531353:T:C Identity +NM_001204051.2:c.230G>A NP_001190980.1:p.Gly77Glu NC_000006.12:46655965:G:A p.(Gly77Glu) NC_000006.12:46655965:G:A p.(Gly77Glu) NC_000006.12:46655965:G:A Identity +NM_001802.2:c.1063G>A NP_001793.1:p.Ala355Thr NC_000016.10:22347266:C:T p.(Ala355Thr) NC_000016.10:22347266:C:T p.(Ala355Thr) NC_000016.10:22347266:C:T Identity +NM_001166347.2:c.1633G>A NP_001159819.1:p.Ala545Thr NC_000017.11:80249263:G:A p.(Ala545Thr) NC_000017.11:80249263:G:A p.(Ala545Thr) NC_000017.11:80249263:G:A Identity +NM_003907.3:c.1561A>G NP_003898.2:p.Met521Val NC_000003.12:184142792:A:G p.(Met521Val) NC_000003.12:184142792:A:G p.(Met521Val) NC_000003.12:184142792:A:G Identity +NM_032229.3:c.527C>T NP_115605.2:p.Pro176Leu NC_000013.11:85795981:G:A p.(Pro176Leu) NC_000013.11:85795981:G:A p.(Pro176Leu) NC_000013.11:85795981:G:A Identity +NM_001410858.1:c.6427A>G NP_001397787.1:p.Ser2143Gly NC_000018.10:45866991:T:C p.(Ser2143Gly) NC_000018.10:45866991:T:C p.(Ser2143Gly) NC_000018.10:45866991:T:C Identity +NM_001411098.1:c.1301G>C NP_001398027.1:p.Cys434Ser NC_000019.10:40729246:G:C p.(Cys434Ser) NC_000019.10:40729246:G:C p.(Cys434Ser) NC_000019.10:40729246:G:C Identity +NM_018353.5:c.1694A>T NP_060823.3:p.Asp565Val NC_000014.9:45227714:T:A p.(Asp565Val) NC_000014.9:45227714:T:A p.(Asp565Val) NC_000014.9:45227714:T:A Identity +NM_001184763.1:c.638A>G NP_001171692.1:p.Asp213Gly NC_000001.11:162512510:A:G p.(Asp213Gly) NC_000001.11:162512510:A:G p.(Asp213Gly) NC_000001.11:162512510:A:G Identity +NM_001254757.2:c.389G>A NP_001241686.1:p.Arg130Gln NC_000011.10:126408145:G:A p.(Arg130Gln) NC_000011.10:126408145:G:A p.(Arg130Gln) NC_000011.10:126408145:G:A Identity +NM_021615.5:c.730G>A NP_067628.1:p.Glu244Lys NC_000016.10:75479098:C:T p.(Glu244Lys) NC_000016.10:75479098:C:T p.(Glu244Lys) NC_000016.10:75479098:C:T Identity +NM_002458.3:c.8801T>A NP_002449.2:p.Val2934Glu NC_000011.10:1245680:T:A p.(Val2934Glu) NC_000011.10:1245680:T:A p.(Val2934Glu) NC_000011.10:1245680:T:A Identity +NM_001146003.2:c.481T>C NP_001139475.1:p.Ser161Pro NC_000003.12:131132769:T:C p.(Ser161Pro) NC_000003.12:131132769:T:C p.(Ser161Pro) NC_000003.12:131132769:T:C Identity +NM_005813.6:c.1582C>T NP_005804.1:p.Arg528Cys NC_000002.12:37274489:G:A p.(Arg528Cys) NC_000002.12:37274489:G:A p.(Arg528Cys) NC_000002.12:37274489:G:A Identity +NM_001144989.2:c.1186A>G NP_001138461.1:p.Ser396Gly NC_000019.10:57874203:T:C p.(Ser396Gly) NC_000019.10:57874203:T:C p.(Ser396Gly) NC_000019.10:57874203:T:C Identity +NM_001013732.4:c.1819C>T NP_001013754.3:p.Arg607Cys NC_000006.12:47879024:G:A p.(Arg607Cys) NC_000006.12:47879024:G:A p.(Arg607Cys) NC_000006.12:47879024:G:A Identity +NM_018728.4:c.4378G>A NP_061198.2:p.Gly1460Arg NC_000015.10:52208561:C:T p.(Gly1460Arg) NC_000015.10:52208561:C:T p.(Gly1460Arg) NC_000015.10:52208561:C:T Identity +NM_001199237.1:c.221G>T NP_001186166.1:p.Arg74Ile NC_000006.12:31664257:C:A p.(Arg74Ile) NC_000006.12:31664257:C:A p.(Arg74Ile) NC_000006.12:31664257:C:A Identity +NM_001304808.3:c.1675G>A NP_001291737.1:p.Ala559Thr NC_000022.11:49798667:C:T p.(Ala559Thr) NC_000022.11:49798667:C:T p.(Ala559Thr) NC_000022.11:49798667:C:T Identity +NM_133267.3:c.344A>G NP_573574.2:p.Asp115Gly NC_000004.12:54100687:A:G p.(Asp115Gly) NC_000004.12:54100687:A:G p.(Asp115Gly) NC_000004.12:54100687:A:G Identity +NM_012455.3:c.2575G>A NP_036587.2:p.Val859Ile NC_000002.12:113197863:G:A p.(Val859Ile) NC_000002.12:113197863:G:A p.(Val859Ile) NC_000002.12:113197863:G:A Identity +NM_015660.3:c.374C>G NP_056475.1:p.Ala125Gly NC_000007.14:150692659:C:G p.(Ala125Gly) NC_000007.14:150692659:C:G p.(Ala125Gly) NC_000007.14:150692659:C:G Identity +NM_014727.3:c.2255C>A NP_055542.1:p.Ala752Glu NC_000019.10:35721601:C:A p.(Ala752Glu) NC_000019.10:35721601:C:A p.(Ala752Glu) NC_000019.10:35721601:C:A Identity +NM_001166226.2:c.458A>G NP_001159698.1:p.Gln153Arg NC_000005.10:123399211:T:C p.(Gln153Arg) NC_000005.10:123399211:T:C p.(Gln153Arg) NC_000005.10:123399211:T:C Identity +NM_001099410.2:c.3722G>T NP_001092880.1:p.Cys1241Phe NC_000023.11:102657634:G:T p.(Cys1241Phe) NC_000023.11:102657634:G:T p.(Cys1241Phe) NC_000023.11:102657634:G:T Identity +NM_001371589.1:c.133C>T NP_001358518.1:p.Arg45Trp NC_000019.10:15448174:G:A p.(Arg45Trp) NC_000019.10:15448174:G:A p.(Arg45Trp) NC_000019.10:15448174:G:A Identity +NM_001242894.2:c.236T>G NP_001229823.1:p.Met79Arg NC_000006.12:28359821:T:G p.(Met79Arg) NC_000006.12:28359821:T:G p.(Met79Arg) NC_000006.12:28359821:T:G Identity +NM_000306.4:c.39A>G NP_000297.1:p.Ile13Met NC_000003.12:87276423:T:C p.(Ile13Met) NC_000003.12:87276423:T:C p.(Ile13Met) NC_000003.12:87276423:T:C Identity +NM_002291.3:c.2668A>G NP_002282.2:p.Thr890Ala NC_000007.14:107959270:T:C p.(Thr890Ala) NC_000007.14:107959270:T:C p.(Thr890Ala) NC_000007.14:107959270:T:C Identity +NM_001323930.2:c.448G>A NP_001310859.1:p.Val150Ile NC_000001.11:227748183:G:A p.(Val150Ile) NC_000001.11:227748183:G:A p.(Val150Ile) NC_000001.11:227748183:G:A Identity +NM_001286379.2:c.313G>A NP_001273308.1:p.Val105Met NC_000006.12:170317666:G:A p.(Val105Met) NC_000006.12:170317666:G:A p.(Val105Met) NC_000006.12:170317666:G:A Identity +NM_001013407.5:c.1421G>A NP_001013425.2:p.Cys474Tyr NC_000001.11:13263100:G:A p.(Cys474Tyr) NC_000001.11:13263100:G:A p.(Cys474Tyr) NC_000001.11:13263100:G:A Identity +NM_001110219.3:c.602T>C NP_001103689.1:p.Ile201Thr NC_000013.11:20222878:A:G p.(Ile201Thr) NC_000013.11:20222878:A:G p.(Ile201Thr) NC_000013.11:20222878:A:G Identity +NM_001113347.2:c.121C>G NP_001106818.1:p.Arg41Gly NC_000001.11:21279313:G:C p.(Arg41Gly) NC_000001.11:21279313:G:C p.(Arg41Gly) NC_000001.11:21279313:G:C Identity +NM_013289.4:c.122G>A NP_037421.2:p.Arg41Gln NC_000019.10:54818365:G:A p.(Arg41Gln) NC_000019.10:54818365:G:A p.(Arg41Gln) NC_000019.10:54818365:G:A Identity +NM_001318185.2:c.2378T>C NP_001305114.1:p.Val793Ala NC_000016.10:31416521:T:C p.(Val793Ala) NC_000016.10:31416521:T:C p.(Val793Ala) NC_000016.10:31416521:T:C Identity +NM_001413201.1:c.437A>G NP_001400130.1:p.Gln146Arg NC_000008.11:27921920:T:C p.(Gln146Arg) NC_000008.11:27921920:T:C p.(Gln146Arg) NC_000008.11:27921920:T:C Identity +NM_052891.3:c.923C>T NP_443123.1:p.Thr308Ile NC_000001.11:153298058:G:A p.(Thr308Ile) NC_000001.11:153298058:G:A p.(Thr308Ile) NC_000001.11:153298058:G:A Identity +NM_014817.4:c.2284T>A NP_055632.2:p.Phe762Ile NC_000007.14:28955762:A:T p.(Phe762Ile) NC_000007.14:28955762:A:T p.(Phe762Ile) NC_000007.14:28955762:A:T Identity +NM_003435.5:c.1078A>G NP_003426.3:p.Ile360Val NC_000019.10:57621196:A:G p.(Ile360Val) NC_000019.10:57621196:A:G p.(Ile360Val) NC_000019.10:57621196:A:G Identity +NM_019884.3:c.158T>G NP_063937.2:p.Val53Gly NC_000019.10:42242307:A:C p.(Val53Gly) NC_000019.10:42242307:A:C p.(Val53Gly) NC_000019.10:42242307:A:C Identity +NM_001378891.1:c.5093T>C NP_001365820.1:p.Val1698Ala NC_000006.12:117337314:A:G p.(Val1698Ala) NC_000006.12:117337314:A:G p.(Val1698Ala) NC_000006.12:117337314:A:G Identity +NM_001282062.1:c.1090G>A NP_001268991.1:p.Glu364Lys NC_000016.10:30006298:C:T p.(Glu364Lys) NC_000016.10:30006298:C:T p.(Glu364Lys) NC_000016.10:30006298:C:T Identity +NM_001256482.2:c.902C>T NP_001243411.1:p.Ala301Val NC_000008.11:27525363:C:T p.(Ala301Val) NC_000008.11:27525363:C:T p.(Ala301Val) NC_000008.11:27525363:C:T Identity +NM_001010866.4:c.962G>A NP_001010866.1:p.Arg321Gln NC_000001.11:9602073:G:A p.(Arg321Gln) NC_000001.11:9602073:G:A p.(Arg321Gln) NC_000001.11:9602073:G:A Identity +NM_005012.4:c.1754C>T NP_005003.2:p.Ser585Phe NC_000001.11:64177794:C:T p.(Ser585Phe) NC_000001.11:64177794:C:T p.(Ser585Phe) NC_000001.11:64177794:C:T Identity +NM_005560.6:c.5773G>A NP_005551.3:p.Ala1925Thr NC_000020.11:62323851:C:T p.(Ala1925Thr) NC_000020.11:62323851:C:T p.(Ala1925Thr) NC_000020.11:62323851:C:T Identity +NM_032634.4:c.2335G>C NP_116023.2:p.Val779Leu NC_000009.12:35091551:C:G p.(Val779Leu) NC_000009.12:35091551:C:G p.(Val779Leu) NC_000009.12:35091551:C:G Identity +NM_001005176.3:c.209G>A NP_001005176.1:p.Arg70His NC_000002.12:230237231:G:A p.(Arg70His) NC_000002.12:230237231:G:A p.(Arg70His) NC_000002.12:230237231:G:A Identity +NM_001256182.2:c.2437G>A NP_001243111.1:p.Ala813Thr NC_000016.10:89284104:C:T p.(Ala813Thr) NC_000016.10:89284104:C:T p.(Ala813Thr) NC_000016.10:89284104:C:T Identity +NM_000702.4:c.1963A>G NP_000693.1:p.Arg655Gly NC_000001.11:160134618:A:G p.(Arg655Gly) NC_000001.11:160134618:A:G p.(Arg655Gly) NC_000001.11:160134618:A:G Identity +NM_001080517.3:c.712C>T NP_001073986.1:p.His238Tyr NC_000003.12:9440599:C:T p.(His238Tyr) NC_000003.12:9440599:C:T p.(His238Tyr) NC_000003.12:9440599:C:T Identity +NM_001040455.2:c.1020C>A NP_001035545.1:p.His340Gln NC_000011.10:117187381:C:A p.(His340Gln) NC_000011.10:117187381:C:A p.(His340Gln) NC_000011.10:117187381:C:A Identity +NM_002292.4:c.4679C>G NP_002283.3:p.Ala1560Gly NC_000003.12:49122264:G:C p.(Ala1560Gly) NC_000003.12:49122264:G:C p.(Ala1560Gly) NC_000003.12:49122264:G:C Identity +NM_018706.7:c.1696G>A NP_061176.4:p.Gly566Arg NC_000010.11:12100201:G:A p.(Gly566Arg) NC_000010.11:12100201:G:A p.(Gly566Arg) NC_000010.11:12100201:G:A Identity +NM_001005271.3:c.526C>T NP_001005271.2:p.Arg176Trp NC_000017.11:7890705:C:T p.(Arg176Trp) NC_000017.11:7890705:C:T p.(Arg176Trp) NC_000017.11:7890705:C:T Identity +NM_001199022.3:c.2653A>G NP_001185951.2:p.Ile885Val NC_000016.10:19545159:A:G p.(Ile885Val) NC_000016.10:19545159:A:G p.(Ile885Val) NC_000016.10:19545159:A:G Identity +NM_001351167.2:c.464C>T NP_001338096.1:p.Ala155Val NC_000011.10:75443205:G:A p.(Ala155Val) NC_000011.10:75443205:G:A p.(Ala155Val) NC_000011.10:75443205:G:A Identity +NM_001349655.2:c.1916A>T NP_001336584.1:p.Gln639Leu NC_000013.11:72931262:A:T p.(Gln639Leu) NC_000013.11:72931262:A:T p.(Gln639Leu) NC_000013.11:72931262:A:T Identity +NM_001320322.2:c.503C>G NP_001307251.1:p.Thr168Ser NC_000012.12:82857428:C:G p.(Thr168Ser) NC_000012.12:82857428:C:G p.(Thr168Ser) NC_000012.12:82857428:C:G Identity +NM_001256252.2:c.945A>C NP_001243181.1:p.Lys315Asn NC_000019.10:6908750:A:C p.(Lys315Asn) NC_000019.10:6908750:A:C p.(Lys315Asn) NC_000019.10:6908750:A:C Identity +NM_014991.6:c.10087C>T NP_055806.2:p.Pro3363Ser NC_000004.12:84678978:G:A p.(Pro3363Ser) NC_000004.12:84678978:G:A p.(Pro3363Ser) NC_000004.12:84678978:G:A Identity +NM_001290259.2:c.5378C>A NP_001277188.1:p.Pro1793Gln NC_000006.12:63713229:C:A p.(Pro1793Gln) NC_000006.12:63713229:C:A p.(Pro1793Gln) NC_000006.12:63713229:C:A Identity +NM_002931.4:c.728C>T NP_002922.2:p.Thr243Met NC_000006.12:33211429:C:T p.(Thr243Met) NC_000006.12:33211429:C:T p.(Thr243Met) NC_000006.12:33211429:C:T Identity +NM_001407805.1:c.1283A>G NP_001394734.1:p.Lys428Arg NC_000019.10:623460:T:C p.(Lys428Arg) NC_000019.10:623460:T:C p.(Lys428Arg) NC_000019.10:623460:T:C Identity +NM_016355.4:c.904C>T NP_057439.2:p.Arg302Cys NC_000012.12:12824545:C:T p.(Arg302Cys) NC_000012.12:12824545:C:T p.(Arg302Cys) NC_000012.12:12824545:C:T Identity +NM_002931.4:c.583G>A NP_002922.2:p.Ala195Thr NC_000006.12:33211284:G:A p.(Ala195Thr) NC_000006.12:33211284:G:A p.(Ala195Thr) NC_000006.12:33211284:G:A Identity +NM_001128636.4:c.665C>T NP_001122108.1:p.Ser222Leu NC_000007.14:1745260:C:T p.(Ser222Leu) NC_000007.14:1745260:C:T p.(Ser222Leu) NC_000007.14:1745260:C:T Identity +NM_032951.3:c.361C>T NP_116569.1:p.Arg121Cys NC_000007.14:73616109:G:A p.(Arg121Cys) NC_000007.14:73616109:G:A p.(Arg121Cys) NC_000007.14:73616109:G:A Identity +NM_001300752.2:c.1116C>A NP_001287681.1:p.His372Gln NC_000005.10:115130842:G:T p.(His372Gln) NC_000005.10:115130842:G:T p.(His372Gln) NC_000005.10:115130842:G:T Identity +NM_001370585.1:c.529G>T NP_001357514.1:p.Val177Leu NC_000016.10:4695077:G:T p.(Val177Leu) NC_000016.10:4695077:G:T p.(Val177Leu) NC_000016.10:4695077:G:T Identity +NM_001009554.4:c.7G>A NP_001009554.1:p.Asp3Asn NC_000004.12:169992291:C:T p.(Asp3Asn) NC_000004.12:169992291:C:T p.(Asp3Asn) NC_000004.12:169992291:C:T Identity +NM_001130924.3:c.1912G>A NP_001124396.2:p.Gly638Ser NC_000001.11:9612993:G:A p.(Gly638Ser) NC_000001.11:9612993:G:A p.(Gly638Ser) NC_000001.11:9612993:G:A Identity +NM_001317224.2:c.137G>A NP_001304153.1:p.Gly46Asp NC_000005.10:24593353:C:T p.(Gly46Asp) NC_000005.10:24593353:C:T p.(Gly46Asp) NC_000005.10:24593353:C:T Identity +NM_000351.7:c.607C>A NP_000342.3:p.Leu203Ile NC_000023.11:7259572:C:A p.(Leu203Ile) NC_000023.11:7259572:C:A p.(Leu203Ile) NC_000023.11:7259572:C:A Identity +NM_001031715.3:c.388A>G NP_001026885.2:p.Ile130Val NC_000015.10:67336974:A:G p.(Ile130Val) NC_000015.10:67336974:A:G p.(Ile130Val) NC_000015.10:67336974:A:G Identity +NM_001042427.3:c.47C>T NP_001035892.1:p.Ala16Val NC_000010.11:49679743:C:T p.(Ala16Val) NC_000010.11:49679743:C:T p.(Ala16Val) NC_000010.11:49679743:C:T Identity +NM_001351446.2:c.1324G>A NP_001338375.1:p.Val442Ile NC_000002.12:102234922:G:A p.(Val442Ile) NC_000002.12:102234922:G:A p.(Val442Ile) NC_000002.12:102234922:G:A Identity +NM_144982.5:c.3559C>T NP_659419.3:p.Arg1187Cys NC_000012.12:71630865:G:A p.(Arg1187Cys) NC_000012.12:71630865:G:A p.(Arg1187Cys) NC_000012.12:71630865:G:A Identity +NM_020765.3:c.15160A>G NP_065816.2:p.Thr5054Ala NC_000001.11:19081421:T:C p.(Thr5054Ala) NC_000001.11:19081421:T:C p.(Thr5054Ala) NC_000001.11:19081421:T:C Identity +NM_015346.4:c.4759C>T NP_056161.2:p.His1587Tyr NC_000014.9:67778163:G:A p.(His1587Tyr) NC_000014.9:67778163:G:A p.(His1587Tyr) NC_000014.9:67778163:G:A Identity +NM_206920.3:c.914A>G NP_996803.2:p.His305Arg NC_000009.12:136854655:A:G p.(His305Arg) NC_000009.12:136854655:A:G p.(His305Arg) NC_000009.12:136854655:A:G Identity +NM_001393769.1:c.1261C>T NP_001380698.1:p.Arg421Trp NC_000003.12:151165422:C:T p.(Arg421Trp) NC_000003.12:151165422:C:T p.(Arg421Trp) NC_000003.12:151165422:C:T Identity +NM_001145785.2:c.993C>T NP_001139257.1:p.Gly331= NC_000019.10:19145910:G:A p.(Gly331=) NC_000019.10:19145910:G:A p.(Gly331=) NC_000019.10:19145910:G:A Identity +NM_022817.3:c.844A>T NP_073728.1:p.Asn282Tyr NC_000002.12:238268178:T:A p.(Asn282Tyr) NC_000002.12:238268178:T:A p.(Asn282Tyr) NC_000002.12:238268178:T:A Identity +NM_153343.4:c.541C>T NP_699174.1:p.Arg181Trp NC_000004.12:184117892:G:A p.(Arg181Trp) NC_000004.12:184117892:G:A p.(Arg181Trp) NC_000004.12:184117892:G:A Identity +NM_001145815.2:c.28G>A NP_001139287.1:p.Ala10Thr NC_000016.10:2520485:G:A p.(Ala10Thr) NC_000016.10:2520485:G:A p.(Ala10Thr) NC_000016.10:2520485:G:A Identity +NM_001312686.2:c.1399G>A NP_001299615.1:p.Val467Met NC_000001.11:113110471:G:A p.(Val467Met) NC_000001.11:113110471:G:A p.(Val467Met) NC_000001.11:113110471:G:A Identity +NM_001136537.3:c.653C>T NP_001130009.1:p.Pro218Leu NC_000001.11:44813410:C:T p.(Pro218Leu) NC_000001.11:44813410:C:T p.(Pro218Leu) NC_000001.11:44813410:C:T Identity +NM_001377500.1:c.1769C>T NP_001364429.1:p.Ala590Val NC_000003.12:129039816:C:T p.(Ala590Val) NC_000003.12:129039816:C:T p.(Ala590Val) NC_000003.12:129039816:C:T Identity +NM_001146197.3:c.9560A>T NP_001139669.1:p.Asn3187Ile NC_000013.11:102741136:T:A p.(Asn3187Ile) NC_000013.11:102741136:T:A p.(Asn3187Ile) NC_000013.11:102741136:T:A Identity +NM_001317916.2:c.632T>G NP_001304845.1:p.Leu211Trp NC_000009.12:66918197:T:G p.(Leu211Trp) NC_000009.12:66918197:T:G p.(Leu211Trp) NC_000009.12:66918197:T:G Identity +NM_031209.3:c.1074C>A NP_112486.1:p.Ser358Arg NC_000019.10:10713131:C:A p.(Ser358Arg) NC_000019.10:10713131:C:A p.(Ser358Arg) NC_000019.10:10713131:C:A Identity +NM_001271946.2:c.761C>T NP_001258875.2:p.Ala254Val NC_000005.10:168817331:G:A p.(Ala254Val) NC_000005.10:168817331:G:A p.(Ala254Val) NC_000005.10:168817331:G:A Identity +NM_152407.4:c.23C>T NP_689620.2:p.Ala8Val NC_000005.10:149345561:C:T p.(Ala8Val) NC_000005.10:149345561:C:T p.(Ala8Val) NC_000005.10:149345561:C:T Identity +NM_016333.4:c.5863C>T NP_057417.3:p.Arg1955Cys NC_000016.10:2766390:C:T p.(Arg1955Cys) NC_000016.10:2766390:C:T p.(Arg1955Cys) NC_000016.10:2766390:C:T Identity +NM_001007255.3:c.368C>A NP_001007256.1:p.Thr123Asn NC_000001.11:161098902:C:A p.(Thr123Asn) NC_000001.11:161098902:C:A p.(Thr123Asn) NC_000001.11:161098902:C:A Identity +NM_001204087.2:c.1828G>A NP_001191016.1:p.Ala610Thr NC_000001.11:154714921:C:T p.(Ala610Thr) NC_000001.11:154714921:C:T p.(Ala610Thr) NC_000001.11:154714921:C:T Identity +NM_001243270.2:c.2050G>A NP_001230199.1:p.Glu684Lys NC_000011.10:100255803:G:A p.(Glu684Lys) NC_000011.10:100255803:G:A p.(Glu684Lys) NC_000011.10:100255803:G:A Identity +NM_032119.4:c.14234T>C NP_115495.3:p.Leu4745Pro NC_000005.10:90791062:T:C p.(Leu4745Pro) NC_000005.10:90791062:T:C p.(Leu4745Pro) NC_000005.10:90791062:T:C Identity +NM_001136044.2:c.74C>T NP_001129516.1:p.Ala25Val NC_000007.14:151082489:G:A p.(Ala25Val) NC_000007.14:151082489:G:A p.(Ala25Val) NC_000007.14:151082489:G:A Identity +NM_001378414.1:c.38G>A NP_001365343.1:p.Arg13Gln NC_000002.12:239236648:C:T p.(Arg13Gln) NC_000002.12:239236648:C:T p.(Arg13Gln) NC_000002.12:239236648:C:T Identity +NM_001282402.2:c.76G>T NP_001269331.1:p.Gly26Cys NC_000001.11:226223756:G:T p.(Gly26Cys) NC_000001.11:226223756:G:T p.(Gly26Cys) NC_000001.11:226223756:G:T Identity +NM_001317906.1:c.362G>A NP_001304835.1:p.Arg121Gln NC_000008.11:25466193:G:A p.(Arg121Gln) NC_000008.11:25466193:G:A p.(Arg121Gln) NC_000008.11:25466193:G:A Identity +NM_152763.5:c.566C>T NP_689976.2:p.Thr189Met NC_000001.11:108852098:G:A p.(Thr189Met) NC_000001.11:108852098:G:A p.(Thr189Met) NC_000001.11:108852098:G:A Identity +NM_006042.3:c.403G>A NP_006033.1:p.Glu135Lys NC_000017.11:13600726:C:T p.(Glu135Lys) NC_000017.11:13600726:C:T p.(Glu135Lys) NC_000017.11:13600726:C:T Identity +NM_001040647.2:c.325A>G NP_001035737.1:p.Met109Val NC_000007.14:66152333:A:G p.(Met109Val) NC_000007.14:66152333:A:G p.(Met109Val) NC_000007.14:66152333:A:G Identity +NM_001366661.1:c.3631G>A NP_001353590.1:p.Gly1211Ser NC_000017.11:2692026:C:T p.(Gly1211Ser) NC_000017.11:2692026:C:T p.(Gly1211Ser) NC_000017.11:2692026:C:T Identity +NM_002458.3:c.11654G>A NP_002449.2:p.Arg3885His NC_000011.10:1248533:G:A p.(Arg3885His) NC_000011.10:1248533:G:A p.(Arg3885His) NC_000011.10:1248533:G:A Identity +NM_001320767.2:c.100G>C NP_001307696.1:p.Ala34Pro NC_000019.10:58246366:G:C p.(Ala34Pro) NC_000019.10:58246366:G:C p.(Ala34Pro) NC_000019.10:58246366:G:C Identity +NM_001317238.2:c.1406G>A NP_001304167.1:p.Cys469Tyr NC_000001.11:1490600:G:A p.(Cys469Tyr) NC_000001.11:1490600:G:A p.(Cys469Tyr) NC_000001.11:1490600:G:A Identity +NM_001080517.3:c.4211G>C NP_001073986.1:p.Arg1404Thr NC_000003.12:9475972:G:C p.(Arg1404Thr) NC_000003.12:9475972:G:C p.(Arg1404Thr) NC_000003.12:9475972:G:C Identity +NM_001166131.2:c.524C>T NP_001159603.1:p.Thr175Ile NC_000017.11:50375731:C:T p.(Thr175Ile) NC_000017.11:50375731:C:T p.(Thr175Ile) NC_000017.11:50375731:C:T Identity +NM_001098518.2:c.1556C>G NP_001091988.1:p.Thr519Arg NC_000006.12:46868947:G:C p.(Thr519Arg) NC_000006.12:46868947:G:C p.(Thr519Arg) NC_000006.12:46868947:G:C Identity +NM_006289.4:c.5383G>T NP_006280.3:p.Ala1795Ser NC_000009.12:35706089:C:A p.(Ala1795Ser) NC_000009.12:35706089:C:A p.(Ala1795Ser) NC_000009.12:35706089:C:A Identity +NM_001353684.2:c.511C>T NP_001340613.1:p.Arg171Cys NC_000021.9:31146957:G:A p.(Arg171Cys) NC_000021.9:31146957:G:A p.(Arg171Cys) NC_000021.9:31146957:G:A Identity +NM_001329914.2:c.887C>T NP_001316843.1:p.Thr296Met NC_000002.12:112086052:C:T p.(Thr296Met) NC_000002.12:112086052:C:T p.(Thr296Met) NC_000002.12:112086052:C:T Identity +NM_001321006.2:c.83G>A NP_001307935.1:p.Arg28Gln NC_000010.11:17162228:C:T p.(Arg28Gln) NC_000010.11:17162228:C:T p.(Arg28Gln) NC_000010.11:17162228:C:T Identity +NM_175872.5:c.880G>A NP_787068.3:p.Ala294Thr NC_000019.10:34958974:C:T p.(Ala294Thr) NC_000019.10:34958974:C:T p.(Ala294Thr) NC_000019.10:34958974:C:T Identity +NM_001100431.2:c.58C>T NP_001093901.1:p.Arg20Cys NC_000023.11:66033827:G:A p.(Arg20Cys) NC_000023.11:66033827:G:A p.(Arg20Cys) NC_000023.11:66033827:G:A Identity +NM_001286756.2:c.1145A>G NP_001273685.1:p.Asp382Gly NC_000004.12:25396746:A:G p.(Asp382Gly) NC_000004.12:25396746:A:G p.(Asp382Gly) NC_000004.12:25396746:A:G Identity +NM_001194937.2:c.2162A>G NP_001181866.1:p.Tyr721Cys NC_000001.11:151408453:T:C p.(Tyr721Cys) NC_000001.11:151408453:T:C p.(Tyr721Cys) NC_000001.11:151408453:T:C Identity +NM_001372.4:c.7297T>G NP_001363.2:p.Ser2433Ala NC_000017.11:11768578:T:G p.(Ser2433Ala) NC_000017.11:11768578:T:G p.(Ser2433Ala) NC_000017.11:11768578:T:G Identity +NM_001130991.3:c.47G>T NP_001124463.1:p.Trp16Leu NC_000011.10:119056113:C:A p.(Trp16Leu) NC_000011.10:119056113:C:A p.(Trp16Leu) NC_000011.10:119056113:C:A Identity +NM_001136116.3:c.407G>C NP_001129588.1:p.Arg136Thr NC_000005.10:179032354:G:C p.(Arg136Thr) NC_000005.10:179032354:G:C p.(Arg136Thr) NC_000005.10:179032354:G:C Identity +NM_000098.3:c.1322T>G NP_000089.1:p.Leu441Arg NC_000001.11:53210995:T:G p.(Leu441Arg) NC_000001.11:53210995:T:G p.(Leu441Arg) NC_000001.11:53210995:T:G Identity +NM_004204.5:c.470C>G NP_004195.2:p.Ala157Gly NC_000016.10:574543:C:G p.(Ala157Gly) NC_000016.10:574543:C:G p.(Ala157Gly) NC_000016.10:574543:C:G Identity +NM_015111.2:c.896G>A NP_055926.1:p.Arg299His NC_000005.10:178121140:G:A p.(Arg299His) NC_000005.10:178121140:G:A p.(Arg299His) NC_000005.10:178121140:G:A Identity +NM_001378891.1:c.6112C>T NP_001365820.1:p.Arg2038Trp NC_000006.12:117317153:G:A p.(Arg2038Trp) NC_000006.12:117317153:G:A p.(Arg2038Trp) NC_000006.12:117317153:G:A Identity +NM_001365819.1:c.1511G>A NP_001352748.1:p.Arg504Gln NC_000022.11:50464661:C:T p.(Arg504Gln) NC_000022.11:50464661:C:T p.(Arg504Gln) NC_000022.11:50464661:C:T Identity +NM_001099415.3:c.2062G>C NP_001092885.2:p.Gly688Arg NC_000007.14:75422189:C:G p.(Gly688Arg) NC_000007.14:75422189:C:G p.(Gly688Arg) NC_000007.14:75422189:C:G Identity +NM_032251.6:c.2434G>C NP_115627.6:p.Glu812Gln NC_000011.10:64344974:G:C p.(Glu812Gln) NC_000011.10:64344974:G:C p.(Glu812Gln) NC_000011.10:64344974:G:C Identity +NM_007264.4:c.760C>T NP_009195.1:p.Arg254Trp NC_000012.12:56995968:C:T p.(Arg254Trp) NC_000012.12:56995968:C:T p.(Arg254Trp) NC_000012.12:56995968:C:T Identity +NM_001287803.2:c.49C>T NP_001274732.1:p.Arg17Cys NC_000010.11:97451723:C:T p.(Arg17Cys) NC_000010.11:97451723:C:T p.(Arg17Cys) NC_000010.11:97451723:C:T Identity +NM_001363857.1:c.250C>T NP_001350786.1:p.Arg84Ter NC_000003.12:139348192:C:T p.(Arg84Ter) NC_000003.12:139348192:C:T p.(Arg84Ter) NC_000003.12:139348192:C:T Identity +NM_001122633.3:c.1312G>T NP_001116105.2:p.Ala438Ser NC_000002.12:210595534:G:T p.(Ala438Ser) NC_000002.12:210595534:G:T p.(Ala438Ser) NC_000002.12:210595534:G:T Identity +NM_001012426.2:c.1309C>T NP_001012426.1:p.Pro437Ser NC_000006.12:41590121:C:T p.(Pro437Ser) NC_000006.12:41590121:C:T p.(Pro437Ser) NC_000006.12:41590121:C:T Identity +NM_001304771.1:c.1493C>T NP_001291700.1:p.Pro498Leu NC_000016.10:19861903:G:A p.(Pro498Leu) NC_000016.10:19861903:G:A p.(Pro498Leu) NC_000016.10:19861903:G:A Identity +NM_001003795.3:c.770G>A NP_001003795.1:p.Ser257Asn NC_000007.14:75135021:G:A p.(Ser257Asn) NC_000007.14:75135021:G:A p.(Ser257Asn) NC_000007.14:75135021:G:A Identity +NM_024713.3:c.701A>G NP_078989.1:p.Tyr234Cys NC_000015.10:34146847:T:C p.(Tyr234Cys) NC_000015.10:34146847:T:C p.(Tyr234Cys) NC_000015.10:34146847:T:C Identity +NM_001297704.3:c.1165T>C NP_001284633.1:p.Ser389Pro NC_000001.11:81943735:T:C p.(Ser389Pro) NC_000001.11:81943735:T:C p.(Ser389Pro) NC_000001.11:81943735:T:C Identity +NM_000299.4:c.847G>A NP_000290.2:p.Val283Ile NC_000001.11:201317571:G:A p.(Val283Ile) NC_000001.11:201317571:G:A p.(Val283Ile) NC_000001.11:201317571:G:A Identity +NM_001363722.2:c.740T>C NP_001350651.1:p.Val247Ala NC_000006.12:69701909:A:G p.(Val247Ala) NC_000006.12:69701909:A:G p.(Val247Ala) NC_000006.12:69701909:A:G Identity +NM_001172574.2:c.1345AAG[1] NP_001166045.2:p.Lys450del NC_000008.11:6445066:AAGAAG:AAG p.(Lys450del) NC_000008.11:6445066:A:AAG ERR:Parse ERR:Parse Identity +NM_033129.4:c.352T>G NP_149120.1:p.Ser118Ala NC_000020.11:664242:A:C p.(Ser118Ala) NC_000020.11:664242:A:C p.(Ser118Ala) NC_000020.11:664242:A:C Identity +NM_001130841.2:c.306C>A NP_001124313.1:p.His102Gln NC_000001.11:100268271:C:A p.(His102Gln) NC_000001.11:100268271:C:A p.(His102Gln) NC_000001.11:100268271:C:A Identity +NM_001010867.4:c.511G>C NP_001010867.1:p.Gly171Arg NC_000001.11:228174860:G:C p.(Gly171Arg) NC_000001.11:228174860:G:C p.(Gly171Arg) NC_000001.11:228174860:G:C Identity +NM_001365212.1:c.11C>G NP_001352141.1:p.Pro4Arg NC_000001.11:173825239:C:G p.(Pro4Arg) NC_000001.11:173825239:C:G p.(Pro4Arg) NC_000001.11:173825239:C:G Identity +NM_001410705.1:c.5039A>G NP_001397634.1:p.Gln1680Arg NC_000023.11:153952548:T:C p.(Gln1680Arg) NC_000023.11:153952548:T:C p.(Gln1680Arg) NC_000023.11:153952548:T:C Identity +NM_001365900.2:c.206A>T NP_001352829.1:p.Lys69Met NC_000001.11:171196727:A:T ERR:Data provider error: ValueError: Transcript NM_001365900.2 not found ERR:Data provider error: ValueError: Transcript NM_001365900.2 not found ERR:AlignmentMapper(tx_ac=NM_001365900.2, alt_ac=NM_001365900.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001365900.2, alt_ac=NM_001365900.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001365900.2 not found +NM_004589.4:c.28C>G NP_004580.1:p.Arg10Gly NC_000017.11:10697479:G:C p.(Arg10Gly) NC_000017.11:10697479:G:C p.(Arg10Gly) NC_000017.11:10697479:G:C Identity +NM_001042406.2:c.661A>G NP_001035865.1:p.Ile221Val NC_000006.12:55495552:T:C p.(Ile221Val) NC_000006.12:55495552:T:C p.(Ile221Val) NC_000006.12:55495552:T:C Identity +NM_001386974.1:c.1078C>T NP_001373903.1:p.Leu360Phe NC_000019.10:17988432:C:T p.(Leu360Phe) NC_000019.10:17988432:C:T p.(Leu360Phe) NC_000019.10:17988432:C:T Identity +NM_012294.5:c.808G>A NP_036426.4:p.Asp270Asn NC_000007.14:22230907:C:T p.(Asp270Asn) NC_000007.14:22230907:C:T p.(Asp270Asn) NC_000007.14:22230907:C:T Identity +NM_002224.4:c.4934C>T NP_002215.2:p.Ser1645Phe NC_000006.12:33684164:C:T p.(Ser1645Phe) NC_000006.12:33684164:C:T p.(Ser1645Phe) NC_000006.12:33684164:C:T Identity +NM_001372044.2:c.3425A>C NP_001358973.1:p.Asp1142Ala NC_000022.11:50721032:A:C ERR:TranscriptMismatch:expected A, found T at transcript indices 3794..3795 NC_000022.11:50721071:T:C ERR:NM_001372044.2:c.3425A>C: Variant reference (A) does not agree with reference sequence (T) ERR:NM_001372044.2:c.3425A>C: Variant reference (A) does not agree with reference sequence (T) Unknown +NM_001388498.1:c.251C>A NP_001375427.1:p.Thr84Asn NC_000012.12:55331950:C:A p.(Thr84Asn) NC_000012.12:55331950:C:A p.(Thr84Asn) NC_000012.12:55331950:C:A Identity +NM_001304360.2:c.1611C>G NP_001291289.1:p.Ile537Met NC_000001.11:1963831:G:C p.(Ile537Met) NC_000001.11:1963831:G:C p.(Ile537Met) NC_000001.11:1963831:G:C Identity +NM_004096.5:c.212C>T NP_004087.1:p.Pro71Leu NC_000010.11:70419979:C:T p.(Pro71Leu) NC_000010.11:70419979:C:T p.(Pro71Leu) NC_000010.11:70419979:C:T Identity +NM_001278593.2:c.315A>C NP_001265522.1:p.Glu105Asp NC_000014.9:74071968:T:G p.(Glu105Asp) NC_000014.9:74071968:T:G p.(Glu105Asp) NC_000014.9:74071968:T:G Identity +NM_002224.4:c.5716G>C NP_002215.2:p.Glu1906Gln NC_000006.12:33686100:G:C p.(Glu1906Gln) NC_000006.12:33686100:G:C p.(Glu1906Gln) NC_000006.12:33686100:G:C Identity +NM_001185085.2:c.2359C>T NP_001172014.1:p.Arg787Cys NC_000013.11:24707280:C:T p.(Arg787Cys) NC_000013.11:24707280:C:T p.(Arg787Cys) NC_000013.11:24707280:C:T Identity +NM_025077.4:c.1397G>A NP_079353.3:p.Gly466Glu NC_000001.11:45343565:G:A p.(Gly466Glu) NC_000001.11:45343565:G:A p.(Gly466Glu) NC_000001.11:45343565:G:A Identity +NM_001005336.3:c.434_436del NP_001005336.1:p.Val145del NC_000009.12:128219094:GGTGG:GG p.(Val145del) NC_000009.12:128219094:GGTGG:GG p.(Val145del) NC_000009.12:128219096:TGG: Identity +NM_001004432.4:c.83G>A NP_001004432.1:p.Gly28Asp NC_000001.11:151802621:C:T p.(Gly28Asp) NC_000001.11:151802621:C:T p.(Gly28Asp) NC_000001.11:151802621:C:T Identity +NM_133259.4:c.3002G>A NP_573566.2:p.Arg1001Lys NC_000002.12:43918292:C:T p.(Arg1001Lys) NC_000002.12:43918292:C:T p.(Arg1001Lys) NC_000002.12:43918292:C:T Identity +NM_017429.3:c.1372C>A NP_059125.2:p.Pro458Thr NC_000016.10:81287363:C:A p.(Pro458Thr) NC_000016.10:81287363:C:A p.(Pro458Thr) NC_000016.10:81287363:C:A Identity +NM_170606.3:c.7318C>A NP_733751.2:p.Pro2440Thr NC_000007.14:152179957:G:T p.(Pro2440Thr) NC_000007.14:152179957:G:T p.(Pro2440Thr) NC_000007.14:152179957:G:T Identity +NM_001037175.3:c.227T>C NP_001032252.1:p.Phe76Ser NC_000001.11:223292572:A:G p.(Phe76Ser) NC_000001.11:223292572:A:G p.(Phe76Ser) NC_000001.11:223292572:A:G Identity +NM_001114099.3:c.1528C>G NP_001107571.1:p.Leu510Val NC_000016.10:29877441:G:C p.(Leu510Val) NC_000016.10:29877441:G:C p.(Leu510Val) NC_000016.10:29877441:G:C Identity +NM_001321859.2:c.2852G>A NP_001308788.1:p.Arg951Gln NC_000002.12:54973827:C:T p.(Arg951Gln) NC_000002.12:54973827:C:T p.(Arg951Gln) NC_000002.12:54973827:C:T Identity +NM_018359.5:c.1340A>C NP_060829.2:p.Lys447Thr NC_000004.12:185400461:T:G p.(Lys447Thr) NC_000004.12:185400461:T:G p.(Lys447Thr) NC_000004.12:185400461:T:G Identity +NM_001002837.3:c.1904G>A NP_001002837.1:p.Gly635Asp NC_000022.11:31134405:G:A p.(Gly635Asp) NC_000022.11:31134405:G:A p.(Gly635Asp) NC_000022.11:31134405:G:A Identity +NM_005544.3:c.1742C>T NP_005535.1:p.Ser581Phe NC_000002.12:226796996:G:A p.(Ser581Phe) NC_000002.12:226796996:G:A p.(Ser581Phe) NC_000002.12:226796996:G:A Identity +NM_001287054.3:c.272C>T NP_001273983.1:p.Ala91Val NC_000007.14:100023885:C:T p.(Ala91Val) NC_000007.14:100023885:C:T p.(Ala91Val) NC_000007.14:100023885:C:T Identity +NM_014878.5:c.1786G>T NP_055693.4:p.Val596Leu NC_000009.12:2807841:C:A p.(Val596Leu) NC_000009.12:2807841:C:A p.(Val596Leu) NC_000009.12:2807841:C:A Identity +NM_001369594.1:c.718A>G NP_001356523.1:p.Met240Val NC_000001.11:222991573:A:G p.(Met240Val) NC_000001.11:222991573:A:G p.(Met240Val) NC_000001.11:222991573:A:G Identity +NM_014611.3:c.668T>C NP_055426.1:p.Leu223Ser NC_000006.12:89793948:A:G p.(Leu223Ser) NC_000006.12:89793948:A:G p.(Leu223Ser) NC_000006.12:89793948:A:G Identity +NM_000338.3:c.766T>C NP_000329.2:p.Phe256Leu NC_000015.10:48229229:T:C p.(Phe256Leu) NC_000015.10:48229229:T:C p.(Phe256Leu) NC_000015.10:48229229:T:C Identity +NM_001385640.1:c.1568C>T NP_001372569.1:p.Pro523Leu NC_000001.11:942569:C:T p.(Pro523Leu) NC_000001.11:942569:C:T p.(Pro523Leu) NC_000001.11:942569:C:T Identity +NM_001366177.2:c.4813A>G NP_001353106.1:p.Asn1605Asp NC_000001.11:155478056:T:C p.(Asn1605Asp) NC_000001.11:155478056:T:C p.(Asn1605Asp) NC_000001.11:155478056:T:C Identity +NM_000671.4:c.464T>C NP_000662.3:p.Ile155Thr NC_000004.12:99076803:A:G p.(Ile155Thr) NC_000004.12:99076803:A:G p.(Ile155Thr) NC_000004.12:99076803:A:G Identity +NM_001202543.2:c.2449G>C NP_001189472.1:p.Val817Leu NC_000007.14:102201712:G:C p.(Val817Leu) NC_000007.14:102201712:G:C p.(Val817Leu) NC_000007.14:102201712:G:C Identity +NM_014643.4:c.620A>T NP_055458.1:p.Tyr207Phe NC_000018.10:76442434:T:A p.(Tyr207Phe) NC_000018.10:76442434:T:A p.(Tyr207Phe) NC_000018.10:76442434:T:A Identity +NM_153252.5:c.392C>T NP_694984.5:p.Pro131Leu NC_000023.11:80791891:G:A p.(Pro131Leu) NC_000023.11:80791891:G:A p.(Pro131Leu) NC_000023.11:80791891:G:A Identity +NM_001368395.3:c.298G>A NP_001355324.1:p.Asp100Asn NC_000023.11:12609748:G:A p.(Asp100Asn) NC_000023.11:12609748:G:A p.(Asp100Asn) NC_000023.11:12609748:G:A Identity +NM_001085480.3:c.17G>A NP_001078949.1:p.Gly6Glu NC_000006.12:116765559:C:T p.(Gly6Glu) NC_000006.12:116765559:C:T p.(Gly6Glu) NC_000006.12:116765559:C:T Identity +NM_001318900.1:c.1206A>T NP_001305829.1:p.Arg402Ser NC_000010.11:87051822:T:A p.(Arg402Ser) NC_000010.11:87051822:T:A p.(Arg402Ser) NC_000010.11:87051822:T:A Identity +NM_001038640.2:c.1165C>T NP_001033729.2:p.Arg389Cys NC_000015.10:74074683:G:A p.(Arg389Cys) NC_000015.10:74074683:G:A p.(Arg389Cys) NC_000015.10:74074683:G:A Identity +NM_033124.5:c.206T>A NP_149115.2:p.Leu69His NC_000012.12:48905018:T:A p.(Leu69His) NC_000012.12:48905018:T:A p.(Leu69His) NC_000012.12:48905018:T:A Identity +NM_001008222.3:c.979G>A NP_001008223.1:p.Ala327Thr NC_000023.11:129806485:C:T p.(Ala327Thr) NC_000023.11:129806485:C:T p.(Ala327Thr) NC_000023.11:129806485:C:T Identity +NM_001014972.3:c.935A>G NP_001014972.1:p.Asn312Ser NC_000002.12:71349888:A:G p.(Asn312Ser) NC_000002.12:71349888:A:G p.(Asn312Ser) NC_000002.12:71349888:A:G Identity +NM_001305424.2:c.1258A>G NP_001292353.1:p.Lys420Glu NC_000001.11:240093366:A:G p.(Lys420Glu) NC_000001.11:240093366:A:G p.(Lys420Glu) NC_000001.11:240093366:A:G Identity +NM_001317958.2:c.502C>A NP_001304887.1:p.Pro168Thr NC_000009.12:132792640:G:T p.(Pro168Thr) NC_000009.12:132792640:G:T p.(Pro168Thr) NC_000009.12:132792640:G:T Identity +NM_001130082.3:c.1327T>G NP_001123554.1:p.Ser443Ala NC_000003.12:48422422:A:C p.(Ser443Ala) NC_000003.12:48422422:A:C p.(Ser443Ala) NC_000003.12:48422422:A:C Identity +NM_001123226.2:c.364G>A NP_001116698.1:p.Val122Met NC_000006.12:73466354:G:A p.(Val122Met) NC_000006.12:73466354:G:A p.(Val122Met) NC_000006.12:73466354:G:A Identity +NM_001079810.4:c.1075A>C NP_001073278.1:p.Lys359Gln NC_000002.12:167241808:A:C p.(Lys359Gln) NC_000002.12:167241808:A:C p.(Lys359Gln) NC_000002.12:167241808:A:C Identity +NM_004058.5:c.320G>A NP_004049.3:p.Arg107His NC_000019.10:5914997:G:A p.(Arg107His) NC_000019.10:5914997:G:A p.(Arg107His) NC_000019.10:5914997:G:A Identity +NM_001301011.2:c.500G>A NP_001287940.1:p.Arg167His NC_000001.11:32204353:G:A p.(Arg167His) NC_000001.11:32204353:G:A p.(Arg167His) NC_000001.11:32204353:G:A Identity +NM_001201478.2:c.254C>T NP_001188407.1:p.Thr85Met NC_000001.11:206609452:G:A p.(Thr85Met) NC_000001.11:206609452:G:A p.(Thr85Met) NC_000001.11:206609452:G:A Identity +NM_001164098.2:c.3082G>C NP_001157570.1:p.Glu1028Gln NC_000005.10:83521387:G:C p.(Glu1028Gln) NC_000005.10:83521387:G:C p.(Glu1028Gln) NC_000005.10:83521387:G:C Identity +NM_198930.4:c.774A>T NP_945148.1:p.Arg258Ser NC_000001.11:158942197:A:T p.(Arg258Ser) NC_000001.11:158942197:A:T p.(Arg258Ser) NC_000001.11:158942197:A:T Identity +NM_001283018.2:c.248A>G NP_001269947.1:p.His83Arg NC_000020.11:23397130:T:C p.(His83Arg) NC_000020.11:23397130:T:C p.(His83Arg) NC_000020.11:23397130:T:C Identity +NM_001346077.1:c.1066C>T NP_001333006.1:p.Pro356Ser NC_000017.11:29572882:C:T p.(Pro356Ser) NC_000017.11:29572882:C:T p.(Pro356Ser) NC_000017.11:29572882:C:T Identity +NM_001001895.3:c.284G>T NP_001001895.1:p.Ser95Ile NC_000021.9:42409537:G:T p.(Ser95Ile) NC_000021.9:42409537:G:T p.(Ser95Ile) NC_000021.9:42409537:G:T Identity +NM_001252678.2:c.772G>T NP_001239607.1:p.Val258Phe NC_000015.10:72736800:G:T p.(Val258Phe) NC_000015.10:72736800:G:T p.(Val258Phe) NC_000015.10:72736800:G:T Identity +NM_001023563.4:c.1649G>A NP_001018857.2:p.Arg550His NC_000019.10:57254467:G:A p.(Arg550His) NC_000019.10:57254467:G:A p.(Arg550His) NC_000019.10:57254467:G:A Identity +NM_006844.5:c.730T>G NP_006835.2:p.Tyr244Asp NC_000019.10:15120067:A:C p.(Tyr244Asp) NC_000019.10:15120067:A:C p.(Tyr244Asp) NC_000019.10:15120067:A:C Identity +NM_002430.3:c.3557C>G NP_002421.3:p.Ala1186Gly NC_000022.11:27796986:G:C p.(Ala1186Gly) NC_000022.11:27796986:G:C p.(Ala1186Gly) NC_000022.11:27796986:G:C Identity +NM_001283018.2:c.125G>A NP_001269947.1:p.Cys42Tyr NC_000020.11:23403045:C:T p.(Cys42Tyr) NC_000020.11:23403045:C:T p.(Cys42Tyr) NC_000020.11:23403045:C:T Identity +NM_001031696.4:c.164C>T NP_001026866.1:p.Thr55Ile NC_000019.10:40366833:C:T p.(Thr55Ile) NC_000019.10:40366833:C:T p.(Thr55Ile) NC_000019.10:40366833:C:T Identity +NM_001166050.2:c.1696A>G NP_001159522.1:p.Arg566Gly NC_000004.12:40827164:T:C p.(Arg566Gly) NC_000004.12:40827164:T:C p.(Arg566Gly) NC_000004.12:40827164:T:C Identity +NM_001267040.1:c.472C>T NP_001253969.1:p.Pro158Ser NC_000006.12:15496212:C:T p.(Pro158Ser) NC_000006.12:15496212:C:T p.(Pro158Ser) NC_000006.12:15496212:C:T Identity +NM_000766.5:c.443G>A NP_000757.2:p.Arg148His NC_000019.10:41090145:G:A p.(Arg148His) NC_000019.10:41090145:G:A p.(Arg148His) NC_000019.10:41090145:G:A Identity +NM_014615.5:c.71C>T NP_055430.1:p.Ala24Val NC_000016.10:85633976:C:T p.(Ala24Val) NC_000016.10:85633976:C:T p.(Ala24Val) NC_000016.10:85633976:C:T Identity +NM_001001438.3:c.2141G>T NP_001001438.1:p.Trp714Leu NC_000021.9:46191161:C:A p.(Trp714Leu) NC_000021.9:46191161:C:A p.(Trp714Leu) NC_000021.9:46191161:C:A Identity +NM_001321213.2:c.160C>T NP_001308142.1:p.Arg54Cys NC_000007.14:5505488:G:A p.(Arg54Cys) NC_000007.14:5505488:G:A p.(Arg54Cys) NC_000007.14:5505488:G:A Identity +NM_001105537.4:c.3304del NP_001099007.1:p.Ala1102fs NC_000002.12:218643211:CCCCC:CCCC p.(Ala1102LeufsTer18) NC_000002.12:218643211:CCCCC:CCCC p.(Ala1102LeufsTer18) NC_000002.12:218643211:C: Analogous +NM_002699.4:c.700G>A NP_002690.3:p.Ala234Thr NC_000001.11:38046043:C:T p.(Ala234Thr) NC_000001.11:38046043:C:T p.(Ala234Thr) NC_000001.11:38046043:C:T Identity +NM_001270639.2:c.52C>G NP_001257568.1:p.Arg18Gly NC_000019.10:50510379:G:C p.(Arg18Gly) NC_000019.10:50510379:G:C p.(Arg18Gly) NC_000019.10:50510379:G:C Identity +NM_001145853.1:c.1187A>C NP_001139325.1:p.Asn396Thr NC_000004.12:6300981:A:C p.(Asn396Thr) NC_000004.12:6300981:A:C p.(Asn396Thr) NC_000004.12:6300981:A:C Identity +NM_015904.4:c.1897A>G NP_056988.3:p.Ile633Val NC_000002.12:99379072:A:G p.(Ile633Val) NC_000002.12:99379072:A:G p.(Ile633Val) NC_000002.12:99379072:A:G Identity +NM_001163034.2:c.3169G>A NP_001156506.1:p.Val1057Met NC_000017.11:80961430:G:A p.(Val1057Met) NC_000017.11:80961430:G:A p.(Val1057Met) NC_000017.11:80961430:G:A Identity +NM_001287803.2:c.287C>T NP_001274732.1:p.Ala96Val NC_000010.11:97452132:C:T p.(Ala96Val) NC_000010.11:97452132:C:T p.(Ala96Val) NC_000010.11:97452132:C:T Identity +NM_001370.2:c.2490G>T NP_001361.1:p.Gln830His NC_000002.12:84588833:G:T p.(Gln830His) NC_000002.12:84588833:G:T p.(Gln830His) NC_000002.12:84588833:G:T Identity +NM_001286577.2:c.3938G>A NP_001273506.1:p.Cys1313Tyr NC_000011.10:74084942:C:T p.(Cys1313Tyr) NC_000011.10:74084942:C:T p.(Cys1313Tyr) NC_000011.10:74084942:C:T Identity +NM_001198608.3:c.1733G>A NP_001185537.1:p.Arg578His NC_000006.12:136361038:C:T p.(Arg578His) NC_000006.12:136361038:C:T p.(Arg578His) NC_000006.12:136361038:C:T Identity +NM_006662.3:c.5727G>T NP_006653.2:p.Glu1909Asp NC_000016.10:30729033:G:T p.(Glu1909Asp) NC_000016.10:30729033:G:T p.(Glu1909Asp) NC_000016.10:30729033:G:T Identity +NM_001166695.3:c.389C>G NP_001160167.1:p.Thr130Ser NC_000005.10:36671097:C:G p.(Thr130Ser) NC_000005.10:36671097:C:G p.(Thr130Ser) NC_000005.10:36671097:C:G Identity +NM_001166343.2:c.640C>T NP_001159815.1:p.Arg214Trp NC_000022.11:37474642:G:A p.(Arg214Trp) NC_000022.11:37474642:G:A p.(Arg214Trp) NC_000022.11:37474642:G:A Identity +NM_007076.3:c.746C>A NP_009007.2:p.Thr249Asn NC_000012.12:108518843:C:A p.(Thr249Asn) NC_000012.12:108518843:C:A p.(Thr249Asn) NC_000012.12:108518843:C:A Identity +NM_032177.4:c.25G>A NP_115553.2:p.Glu9Lys NC_000005.10:126600986:G:A p.(Glu9Lys) NC_000005.10:126600986:G:A p.(Glu9Lys) NC_000005.10:126600986:G:A Identity +NM_001005272.3:c.839G>A NP_001005272.3:p.Ser280Asn NC_000011.10:54707722:G:A p.(Ser280Asn) NC_000011.10:54707722:G:A p.(Ser280Asn) NC_000011.10:54707722:G:A Identity +NM_001377989.1:c.232G>T NP_001364918.1:p.Ala78Ser NC_000008.11:58146461:G:T p.(Ala78Ser) NC_000008.11:58146461:G:T p.(Ala78Ser) NC_000008.11:58146461:G:T Identity +NM_001291501.2:c.3379C>G NP_001278430.1:p.Pro1127Ala NC_000022.11:45345463:G:C p.(Pro1127Ala) NC_000022.11:45345463:G:C p.(Pro1127Ala) NC_000022.11:45345463:G:C Identity +NM_001303402.2:c.1760C>T NP_001290331.1:p.Thr587Ile NC_000003.12:39094714:C:T p.(Thr587Ile) NC_000003.12:39094714:C:T p.(Thr587Ile) NC_000003.12:39094714:C:T Identity +NM_001283043.3:c.5638A>G NP_001269972.1:p.Thr1880Ala NC_000014.9:35595725:T:C p.(Thr1880Ala) NC_000014.9:35595725:T:C p.(Thr1880Ala) NC_000014.9:35595725:T:C Identity +NM_001258206.2:c.1427A>T NP_001245135.1:p.Asp476Val NC_000019.10:6832118:A:T p.(Asp476Val) NC_000019.10:6832118:A:T p.(Asp476Val) NC_000019.10:6832118:A:T Identity +NM_015059.3:c.4850G>A NP_055874.2:p.Arg1617His NC_000015.10:62762341:G:A p.(Arg1617His) NC_000015.10:62762341:G:A p.(Arg1617His) NC_000015.10:62762341:G:A Identity +NM_022739.4:c.2114C>A NP_073576.1:p.Ala705Asp NC_000017.11:64546295:G:T p.(Ala705Asp) NC_000017.11:64546295:G:T p.(Ala705Asp) NC_000017.11:64546295:G:T Identity +NM_018948.4:c.1033G>T NP_061821.1:p.Val345Phe NC_000001.11:8013565:C:A p.(Val345Phe) NC_000001.11:8013565:C:A p.(Val345Phe) NC_000001.11:8013565:C:A Identity +NM_001194.4:c.274A>C NP_001185.3:p.Ser92Arg NC_000019.10:590218:A:C p.(Ser92Arg) NC_000019.10:590218:A:C p.(Ser92Arg) NC_000019.10:590218:A:C Identity +NM_001286527.3:c.1019C>T NP_001273456.2:p.Pro340Leu NC_000016.10:84439197:C:T p.(Pro340Leu) NC_000016.10:84439197:C:T p.(Pro340Leu) NC_000016.10:84439197:C:T Identity +NM_025009.5:c.545T>C NP_079285.2:p.Val182Ala NC_000004.12:55957294:T:C p.(Val182Ala) NC_000004.12:55957294:T:C p.(Val182Ala) NC_000004.12:55957294:T:C Identity +NM_015378.4:c.6446A>G NP_056193.2:p.His2149Arg NC_000001.11:12308436:A:G p.(His2149Arg) NC_000001.11:12308436:A:G p.(His2149Arg) NC_000001.11:12308436:A:G Identity +NM_015150.2:c.878G>T NP_055965.1:p.Arg293Leu NC_000003.12:16370227:C:A p.(Arg293Leu) NC_000003.12:16370227:C:A p.(Arg293Leu) NC_000003.12:16370227:C:A Identity +NM_000634.3:c.587C>T NP_000625.1:p.Ala196Val NC_000002.12:218164624:G:A p.(Ala196Val) NC_000002.12:218164624:G:A p.(Ala196Val) NC_000002.12:218164624:G:A Identity +NM_002016.2:c.8531A>C NP_002007.1:p.Glu2844Ala NC_000001.11:152306354:T:G p.(Glu2844Ala) NC_000001.11:152306354:T:G p.(Glu2844Ala) NC_000001.11:152306354:T:G Identity +NM_001282168.2:c.313G>T NP_001269097.1:p.Gly105Cys NC_000013.11:52436300:C:A p.(Gly105Cys) NC_000013.11:52436300:C:A p.(Gly105Cys) NC_000013.11:52436300:C:A Identity +NM_001011552.4:c.1750C>A NP_001011552.2:p.Leu584Ile NC_000002.12:102519886:C:A p.(Leu584Ile) NC_000002.12:102519886:C:A p.(Leu584Ile) NC_000002.12:102519886:C:A Identity +NM_001136035.4:c.1624A>G NP_001129507.1:p.Ser542Gly NC_000019.10:13105565:T:C p.(Ser542Gly) NC_000019.10:13105565:T:C p.(Ser542Gly) NC_000019.10:13105565:T:C Identity +NM_001142929.2:c.26A>G NP_001136401.2:p.Glu9Gly NC_000010.11:49616594:A:G p.(Glu9Gly) NC_000010.11:49616594:A:G p.(Glu9Gly) NC_000010.11:49616594:A:G Identity +NM_004823.3:c.208G>C NP_004814.1:p.Gly70Arg NC_000019.10:38320157:G:C p.(Gly70Arg) NC_000019.10:38320157:G:C p.(Gly70Arg) NC_000019.10:38320157:G:C Identity +NM_001004301.4:c.1220G>T NP_001004301.2:p.Gly407Val NC_000019.10:53491451:G:T p.(Gly407Val) NC_000019.10:53491451:G:T p.(Gly407Val) NC_000019.10:53491451:G:T Identity +NM_001349636.2:c.2041G>T NP_001336565.1:p.Ala681Ser NC_000008.11:85135953:G:T p.(Ala681Ser) NC_000008.11:85135953:G:T p.(Ala681Ser) NC_000008.11:85135953:G:T Identity +NM_018385.3:c.392C>T NP_060855.2:p.Ala131Val NC_000003.12:194666244:G:A p.(Ala131Val) NC_000003.12:194666244:G:A p.(Ala131Val) NC_000003.12:194666244:G:A Identity +NM_001394062.1:c.1591G>C NP_001380991.1:p.Glu531Gln NC_000001.11:39287367:G:C p.(Glu531Gln) NC_000001.11:39287367:G:C p.(Glu531Gln) NC_000001.11:39287367:G:C Identity +NM_016013.4:c.875G>T NP_057097.2:p.Gly292Val NC_000015.10:41387552:C:A p.(Gly292Val) NC_000015.10:41387552:C:A p.(Gly292Val) NC_000015.10:41387552:C:A Identity +NM_001168222.2:c.950T>C NP_001161694.1:p.Met317Thr NC_000019.10:49883667:T:C p.(Met317Thr) NC_000019.10:49883667:T:C p.(Met317Thr) NC_000019.10:49883667:T:C Identity +NM_001032287.3:c.658A>G NP_001027458.1:p.Thr220Ala NC_000012.12:95057764:T:C p.(Thr220Ala) NC_000012.12:95057764:T:C p.(Thr220Ala) NC_000012.12:95057764:T:C Identity +NM_001286164.2:c.989A>G NP_001273093.1:p.Lys330Arg NC_000001.11:177030828:T:C p.(Lys330Arg) NC_000001.11:177030828:T:C p.(Lys330Arg) NC_000001.11:177030828:T:C Identity +NM_015512.5:c.9784G>A NP_056327.4:p.Asp3262Asn NC_000003.12:52391220:G:A p.(Asp3262Asn) NC_000003.12:52391220:G:A p.(Asp3262Asn) NC_000003.12:52391220:G:A Identity +NM_003716.4:c.1949C>T NP_003707.2:p.Ala650Val NC_000003.12:62549919:G:A p.(Ala650Val) NC_000003.12:62549919:G:A p.(Ala650Val) NC_000003.12:62549919:G:A Identity +NM_014008.5:c.1333G>C NP_054727.1:p.Glu445Gln NC_000023.11:49248635:G:C p.(Glu445Gln) NC_000023.11:49248635:G:C p.(Glu445Gln) NC_000023.11:49248635:G:C Identity +NM_001387222.1:c.218C>T NP_001374151.1:p.Pro73Leu NC_000001.11:152709292:C:T p.(Pro73Leu) NC_000001.11:152709292:C:T p.(Pro73Leu) NC_000001.11:152709292:C:T Identity +NM_017525.3:c.1937G>T NP_059995.2:p.Ser646Ile NC_000011.10:64835362:C:A p.(Ser646Ile) NC_000011.10:64835362:C:A p.(Ser646Ile) NC_000011.10:64835362:C:A Identity +NM_001351446.2:c.1069A>C NP_001338375.1:p.Asn357His NC_000002.12:102225974:A:C p.(Asn357His) NC_000002.12:102225974:A:C p.(Asn357His) NC_000002.12:102225974:A:C Identity +NM_001135.4:c.5051T>C NP_001126.3:p.Ile1684Thr NC_000015.10:88857635:T:C p.(Ile1684Thr) NC_000015.10:88857635:T:C p.(Ile1684Thr) NC_000015.10:88857635:T:C Identity +NM_020439.3:c.335G>T NP_065172.1:p.Arg112Leu NC_000001.11:209605573:G:T p.(Arg112Leu) NC_000001.11:209605573:G:T p.(Arg112Leu) NC_000001.11:209605573:G:T Identity +NM_001161587.2:c.1498T>G NP_001155059.1:p.Cys500Gly NC_000019.10:48970664:A:C p.(Cys500Gly) NC_000019.10:48970664:A:C p.(Cys500Gly) NC_000019.10:48970664:A:C Identity +NM_021224.6:c.4135G>A NP_067047.4:p.Val1379Ile NC_000009.12:106928046:G:A p.(Val1379Ile) NC_000009.12:106928046:G:A p.(Val1379Ile) NC_000009.12:106928046:G:A Identity +NM_001167733.3:c.2281C>T NP_001161205.1:p.Arg761Trp NC_000006.12:30925300:C:T p.(Arg761Trp) NC_000006.12:30925300:C:T p.(Arg761Trp) NC_000006.12:30925300:C:T Identity +NM_001073.3:c.1376G>A NP_001064.1:p.Arg459Gln NC_000004.12:69200653:C:T p.(Arg459Gln) NC_000004.12:69200653:C:T p.(Arg459Gln) NC_000004.12:69200653:C:T Identity +NM_001253891.2:c.773A>G NP_001240820.1:p.Lys258Arg NC_000011.10:75798318:A:G p.(Lys258Arg) NC_000011.10:75798318:A:G p.(Lys258Arg) NC_000011.10:75798318:A:G Identity +NM_018008.4:c.359T>G NP_060478.3:p.Val120Gly NC_000003.12:62372509:A:C p.(Val120Gly) NC_000003.12:62372509:A:C p.(Val120Gly) NC_000003.12:62372509:A:C Identity +NM_014948.4:c.1606G>A NP_055763.1:p.Val536Met NC_000020.11:3110125:C:T p.(Val536Met) NC_000020.11:3110125:C:T p.(Val536Met) NC_000020.11:3110125:C:T Identity +NM_024913.5:c.2778A>T NP_079189.4:p.Lys926Asn NC_000007.14:121271339:A:T p.(Lys926Asn) NC_000007.14:121271339:A:T p.(Lys926Asn) NC_000007.14:121271339:A:T Identity +NM_000111.3:c.152A>G NP_000102.1:p.Lys51Arg NC_000007.14:107793860:T:C p.(Lys51Arg) NC_000007.14:107793860:T:C p.(Lys51Arg) NC_000007.14:107793860:T:C Identity +NM_020371.3:c.166G>A NP_065104.1:p.Gly56Ser NC_000015.10:34038880:C:T p.(Gly56Ser) NC_000015.10:34038880:C:T p.(Gly56Ser) NC_000015.10:34038880:C:T Identity +NM_001190818.2:c.752C>T NP_001177747.1:p.Thr251Ile NC_000001.11:52393772:G:A p.(Thr251Ile) NC_000001.11:52393772:G:A p.(Thr251Ile) NC_000001.11:52393772:G:A Identity +NM_018451.5:c.373T>A NP_060921.3:p.Phe125Ile NC_000013.11:24912652:A:T p.(Phe125Ile) NC_000013.11:24912652:A:T p.(Phe125Ile) NC_000013.11:24912652:A:T Identity +NM_001193455.2:c.73G>A NP_001180384.1:p.Gly25Ser NC_000005.10:6632906:C:T p.(Gly25Ser) NC_000005.10:6632906:C:T p.(Gly25Ser) NC_000005.10:6632906:C:T Identity +NM_001362819.2:c.1532G>A NP_001349748.1:p.Gly511Glu NC_000008.11:18867676:C:T p.(Gly511Glu) NC_000008.11:18867676:C:T p.(Gly511Glu) NC_000008.11:18867676:C:T Identity +NM_001197287.2:c.284A>C NP_001184216.2:p.Asn95Thr NC_000014.9:19713599:T:G p.(Asn95Thr) NC_000014.9:19713599:T:G p.(Asn95Thr) NC_000014.9:19713599:T:G Identity +NM_020987.5:c.4669A>C NP_066267.2:p.Thr1557Pro NC_000010.11:60076211:T:G p.(Thr1557Pro) NC_000010.11:60076211:T:G p.(Thr1557Pro) NC_000010.11:60076211:T:G Identity +NM_015407.5:c.700C>T NP_056222.2:p.Arg234Cys NC_000003.12:51980901:C:T p.(Arg234Cys) NC_000003.12:51980901:C:T p.(Arg234Cys) NC_000003.12:51980901:C:T Identity +NM_001130527.3:c.1918C>A NP_001123999.1:p.Leu640Met NC_000017.11:50996584:G:T p.(Leu640Met) NC_000017.11:50996584:G:T p.(Leu640Met) NC_000017.11:50996584:G:T Identity +NM_001369605.1:c.458C>G NP_001356534.1:p.Ala153Gly NC_000001.11:206842545:C:G p.(Ala153Gly) NC_000001.11:206842545:C:G p.(Ala153Gly) NC_000001.11:206842545:C:G Identity +NM_153813.3:c.2375A>C NP_722520.2:p.Asp792Ala NC_000016.10:88534332:A:C p.(Asp792Ala) NC_000016.10:88534332:A:C p.(Asp792Ala) NC_000016.10:88534332:A:C Identity +NM_001014796.3:c.274C>T NP_001014796.1:p.His92Tyr NC_000001.11:162754711:C:T p.(His92Tyr) NC_000001.11:162754711:C:T p.(His92Tyr) NC_000001.11:162754711:C:T Identity +NM_001005284.2:c.250A>G NP_001005284.2:p.Ser84Gly NC_000011.10:56743516:T:C p.(Ser84Gly) NC_000011.10:56743516:T:C p.(Ser84Gly) NC_000011.10:56743516:T:C Identity +NM_001190864.2:c.314T>G NP_001177793.1:p.Leu105Arg NC_000012.12:27716450:T:G p.(Leu105Arg) NC_000012.12:27716450:T:G p.(Leu105Arg) NC_000012.12:27716450:T:G Identity +NM_001371364.2:c.786C>G NP_001358293.1:p.Phe262Leu NC_000007.14:107580837:C:G p.(Phe262Leu) NC_000007.14:107580837:C:G p.(Phe262Leu) NC_000007.14:107580837:C:G Identity +NM_001363546.1:c.1199T>C NP_001350475.1:p.Leu400Pro NC_000019.10:15472033:A:G p.(Leu400Pro) NC_000019.10:15472033:A:G p.(Leu400Pro) NC_000019.10:15472033:A:G Identity +NM_001005743.2:c.1527G>C NP_001005743.1:p.Gln509His NC_000014.9:73277006:C:G p.(Gln509His) NC_000014.9:73277006:C:G p.(Gln509His) NC_000014.9:73277006:C:G Identity +NM_014872.3:c.647A>G NP_055687.1:p.Asp216Gly NC_000009.12:37441904:T:C p.(Asp216Gly) NC_000009.12:37441904:T:C p.(Asp216Gly) NC_000009.12:37441904:T:C Identity +NM_001040462.3:c.1366C>T NP_001035552.1:p.Pro456Ser NC_000005.10:180950406:C:T p.(Pro456Ser) NC_000005.10:180950406:C:T p.(Pro456Ser) NC_000005.10:180950406:C:T Identity +NM_017966.5:c.315G>C NP_060436.4:p.Gln105His NC_000011.10:61133287:C:G p.(Gln105His) NC_000011.10:61133287:C:G p.(Gln105His) NC_000011.10:61133287:C:G Identity +NM_000867.5:c.364C>A NP_000858.3:p.Pro122Thr NC_000002.12:231113917:G:T p.(Pro122Thr) NC_000002.12:231113917:G:T p.(Pro122Thr) NC_000002.12:231113917:G:T Identity +NM_152491.5:c.302T>C NP_689704.4:p.Val101Ala NC_000001.11:205845511:A:G p.(Val101Ala) NC_000001.11:205845511:A:G p.(Val101Ala) NC_000001.11:205845511:A:G Identity +NM_033058.3:c.358G>T NP_149047.2:p.Asp120Tyr NC_000008.11:66135005:G:T p.(Asp120Tyr) NC_000008.11:66135005:G:T p.(Asp120Tyr) NC_000008.11:66135005:G:T Identity +NM_001312673.2:c.74C>T NP_001299602.1:p.Thr25Ile NC_000003.12:196270457:G:A p.(Thr25Ile) NC_000003.12:196270457:G:A p.(Thr25Ile) NC_000003.12:196270457:G:A Identity +NM_001242597.2:c.223C>T NP_001229526.1:p.Arg75Trp NC_000019.10:35546969:C:T p.(Arg75Trp) NC_000019.10:35546969:C:T p.(Arg75Trp) NC_000019.10:35546969:C:T Identity +NM_001100112.2:c.3045C>A NP_001093582.1:p.Asp1015Glu NC_000017.11:10529635:G:T p.(Asp1015Glu) NC_000017.11:10529635:G:T p.(Asp1015Glu) NC_000017.11:10529635:G:T Identity +NM_001370346.1:c.4499C>T NP_001357275.1:p.Ala1500Val NC_000006.12:151353204:C:T p.(Ala1500Val) NC_000006.12:151353204:C:T p.(Ala1500Val) NC_000006.12:151353204:C:T Identity +NM_000129.4:c.1376C>A NP_000120.2:p.Thr459Asn NC_000006.12:6182070:G:T p.(Thr459Asn) NC_000006.12:6182070:G:T p.(Thr459Asn) NC_000006.12:6182070:G:T Identity +NM_001098415.1:c.253A>C NP_001091885.1:p.Met85Leu NC_000012.12:47798789:T:G ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found +NM_001031803.2:c.2155G>A NP_001026973.1:p.Ala719Thr NC_000017.11:75571078:G:A p.(Ala719Thr) NC_000017.11:75571078:G:A p.(Ala719Thr) NC_000017.11:75571078:G:A Identity +NM_001276.4:c.767T>C NP_001267.2:p.Met256Thr NC_000001.11:203180596:A:G p.(Met256Thr) NC_000001.11:203180596:A:G p.(Met256Thr) NC_000001.11:203180596:A:G Identity +NM_144982.5:c.3535A>G NP_659419.3:p.Ile1179Val NC_000012.12:71630889:T:C p.(Ile1179Val) NC_000012.12:71630889:T:C p.(Ile1179Val) NC_000012.12:71630889:T:C Identity +NM_001281956.2:c.4530G>C NP_001268885.1:p.Glu1510Asp NC_000001.11:33652378:C:G p.(Glu1510Asp) NC_000001.11:33652378:C:G p.(Glu1510Asp) NC_000001.11:33652378:C:G Identity +NM_000521.4:c.587A>T NP_000512.2:p.Asp196Val NC_000005.10:74697023:A:T p.(Asp196Val) NC_000005.10:74697023:A:T p.(Asp196Val) NC_000005.10:74697023:A:T Identity +NM_207414.3:c.431G>A NP_997297.2:p.Arg144Gln NC_000008.11:141494914:C:T p.(Arg144Gln) NW_025791786.1:161468:C:T p.(Arg144Gln) NC_000008.11:161468:A:T Identity +NM_021076.4:c.2229A>T NP_066554.2:p.Glu743Asp NC_000022.11:29489868:A:T p.(Glu743Asp) NC_000022.11:29489868:A:T p.(Glu743Asp) NC_000022.11:29489868:A:T Identity +NM_001143885.2:c.930T>A NP_001137357.1:p.Asn310Lys NC_000012.12:79821103:A:T p.(Asn310Lys) NC_000012.12:79821103:A:T p.(Asn310Lys) NC_000012.12:79821103:A:T Identity +NM_001351444.2:c.6865C>T NP_001338373.1:p.Arg2289Trp NC_000006.12:87260913:C:T p.(Arg2289Trp) NC_000006.12:87260913:C:T p.(Arg2289Trp) NC_000006.12:87260913:C:T Identity +NM_001137669.2:c.1147C>A NP_001131141.1:p.Pro383Thr NC_000001.11:182474257:C:A p.(Pro383Thr) NC_000001.11:182474257:C:A p.(Pro383Thr) NC_000001.11:182474257:C:A Identity +NM_006593.4:c.217G>T NP_006584.1:p.Asp73Tyr NC_000002.12:161416626:G:T p.(Asp73Tyr) NC_000002.12:161416626:G:T p.(Asp73Tyr) NC_000002.12:161416626:G:T Identity +NM_001145124.1:c.2754G>A NP_001138596.1:p.Met918Ile NC_000009.12:87922660:G:A p.(Met918Ile) NC_000009.12:87922660:G:A p.(Met918Ile) NC_000009.12:87922660:G:A Identity +NM_001144063.2:c.2378G>T NP_001137535.1:p.Trp793Leu NC_000011.10:3088262:C:A p.(Trp793Leu) NC_000011.10:3088262:C:A p.(Trp793Leu) NC_000011.10:3088262:C:A Identity +NM_001350283.2:c.1067G>A NP_001337212.1:p.Arg356Gln NC_000011.10:65864500:G:A p.(Arg356Gln) NC_000011.10:65864500:G:A p.(Arg356Gln) NC_000011.10:65864500:G:A Identity +NM_020719.3:c.4228C>T NP_065770.1:p.Leu1410Phe NC_000019.10:49599820:C:T p.(Leu1410Phe) NC_000019.10:49599820:C:T p.(Leu1410Phe) NC_000019.10:49599820:C:T Identity +NM_001351273.1:c.2863G>A NP_001338202.1:p.Asp955Asn NC_000019.10:1466166:G:A p.(Asp955Asn) NC_000019.10:1466166:G:A p.(Asp955Asn) NC_000019.10:1466166:G:A Identity +NM_001258286.1:c.551C>T NP_001245215.1:p.Thr184Ile NC_000005.10:55656731:G:A p.(Thr184Ile) NC_000005.10:55656731:G:A p.(Thr184Ile) NC_000005.10:55656731:G:A Identity +NM_000015.3:c.247G>T NP_000006.2:p.Gly83Cys NC_000008.11:18400249:G:T p.(Gly83Cys) NC_000008.11:18400249:G:T p.(Gly83Cys) NC_000008.11:18400249:G:T Identity +NM_003399.6:c.712C>A NP_003390.4:p.Leu238Ile NC_000023.11:129750541:C:A p.(Leu238Ile) NC_000023.11:129750541:C:A p.(Leu238Ile) NC_000023.11:129750541:C:A Identity +NM_001145197.1:c.2665A>T NP_001138669.1:p.Met889Leu NC_000009.12:81932825:A:T p.(Met889Leu) NC_000009.12:81932825:A:T p.(Met889Leu) NC_000009.12:81932825:A:T Identity +NM_001365116.2:c.1586G>A NP_001352045.1:p.Arg529His NC_000003.12:46995422:G:A p.(Arg529His) NC_000003.12:46995422:G:A p.(Arg529His) NC_000003.12:46995422:G:A Identity +NM_014006.2:c.7192A>G NP_054725.1:p.Thr2398Ala NC_000016.10:18829976:T:C ERR:Data provider error: ValueError: Transcript NM_014006.2 not found ERR:Data provider error: ValueError: Transcript NM_014006.2 not found ERR:AlignmentMapper(tx_ac=NM_014006.2, alt_ac=NM_014006.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014006.2, alt_ac=NM_014006.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014006.2 not found +NM_001005286.2:c.452G>C NP_001005286.1:p.Cys151Ser NC_000001.11:247712303:C:G p.(Cys151Ser) NC_000001.11:247712303:C:G p.(Cys151Ser) NC_000001.11:247712303:C:G Identity +NM_001994.3:c.1462C>A NP_001985.2:p.Gln488Lys NC_000001.11:197052726:G:T p.(Gln488Lys) NC_000001.11:197052726:G:T p.(Gln488Lys) NC_000001.11:197052726:G:T Identity +NM_001287584.2:c.611C>T NP_001274513.1:p.Ala204Val NC_000002.12:183158334:C:T p.(Ala204Val) NC_000002.12:183158334:C:T p.(Ala204Val) NC_000002.12:183158334:C:T Identity +NM_001304519.2:c.386G>T NP_001291448.1:p.Arg129Leu NC_000007.14:27246132:G:T p.(Arg129Leu) NC_000007.14:27246132:G:T p.(Arg129Leu) NC_000007.14:27246132:G:T Identity +NM_001199111.2:c.859A>G NP_001186040.1:p.Met287Val NC_000002.12:63605953:A:G p.(Met287Val) NC_000002.12:63605953:A:G p.(Met287Val) NC_000002.12:63605953:A:G Identity +NM_001134232.2:c.784G>A NP_001127704.1:p.Gly262Arg NC_000007.14:12231933:G:A p.(Gly262Arg) NC_000007.14:12231933:G:A p.(Gly262Arg) NC_000007.14:12231933:G:A Identity +NM_001318052.2:c.452G>A NP_001304981.1:p.Arg151His NC_000007.14:140601945:C:T p.(Arg151His) NC_000007.14:140601945:C:T p.(Arg151His) NC_000007.14:140601945:C:T Identity +NM_001395212.1:c.643T>G NP_001382141.1:p.Ser215Ala NC_000012.12:4810683:T:G ERR:Data provider error: ValueError: Transcript NM_001395212.1 not found ERR:Data provider error: ValueError: Transcript NM_001395212.1 not found ERR:AlignmentMapper(tx_ac=NM_001395212.1, alt_ac=NM_001395212.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001395212.1, alt_ac=NM_001395212.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001395212.1 not found +NM_001206665.2:c.1081C>G NP_001193594.1:p.Gln361Glu NC_000001.11:160093154:G:C p.(Gln361Glu) NC_000001.11:160093154:G:C p.(Gln361Glu) NC_000001.11:160093154:G:C Identity +NM_023112.4:c.641C>A NP_075601.1:p.Pro214His NC_000014.9:94045857:C:A p.(Pro214His) NC_000014.9:94045857:C:A p.(Pro214His) NC_000014.9:94045857:C:A Identity +NM_152279.4:c.469C>T NP_689492.3:p.Leu157Phe NC_000019.10:37187067:G:A p.(Leu157Phe) NC_000019.10:37187067:G:A p.(Leu157Phe) NC_000019.10:37187067:G:A Identity +NM_002214.3:c.394G>A NP_002205.1:p.Glu132Lys NC_000007.14:20379055:G:A p.(Glu132Lys) NC_000007.14:20379055:G:A p.(Glu132Lys) NC_000007.14:20379055:G:A Identity +NM_001014380.3:c.1069G>A NP_001014402.1:p.Ala357Thr NC_000013.11:30227489:C:T p.(Ala357Thr) NC_000013.11:30227489:C:T p.(Ala357Thr) NC_000013.11:30227489:C:T Identity +NM_001388453.1:c.3341G>A NP_001375382.1:p.Arg1114His NC_000017.11:76291385:C:T p.(Arg1114His) NC_000017.11:76291385:C:T p.(Arg1114His) NC_000017.11:76291385:C:T Identity +NM_001135047.2:c.236G>A NP_001128519.1:p.Arg79Gln NC_000014.9:75461459:G:A p.(Arg79Gln) NC_000014.9:75461459:G:A p.(Arg79Gln) NC_000014.9:75461459:G:A Identity +NM_001378205.1:c.4148C>T NP_001365134.1:p.Ala1383Val NC_000018.10:8824700:C:T p.(Ala1383Val) NC_000018.10:8824700:C:T p.(Ala1383Val) NC_000018.10:8824700:C:T Identity +NM_001100176.2:c.1556A>G NP_001093646.1:p.Asp519Gly NC_000019.10:12765969:T:C p.(Asp519Gly) NC_000019.10:12765969:T:C p.(Asp519Gly) NC_000019.10:12765969:T:C Identity +NM_001098816.3:c.1513C>A NP_001092286.2:p.Gln505Lys NC_000011.10:78854271:G:T p.(Gln505Lys) NC_000011.10:78854271:G:T p.(Gln505Lys) NC_000011.10:78854271:G:T Identity +NM_001128631.3:c.427C>T NP_001122103.1:p.Arg143Trp NC_000017.11:45024701:G:A p.(Arg143Trp) NC_000017.11:45024701:G:A p.(Arg143Trp) NC_000017.11:45024701:G:A Identity +NM_001032394.3:c.1498A>G NP_001027566.2:p.Met500Val NC_000006.12:142400498:A:G p.(Met500Val) NC_000006.12:142400498:A:G p.(Met500Val) NC_000006.12:142400498:A:G Identity +NM_001289088.2:c.2857A>G NP_001276017.1:p.Met953Val NC_000001.11:35114686:A:G p.(Met953Val) NC_000001.11:35114686:A:G p.(Met953Val) NC_000001.11:35114686:A:G Identity +NM_003737.4:c.8093A>G NP_003728.1:p.Asp2698Gly NC_000011.10:6623582:T:C p.(Asp2698Gly) NC_000011.10:6623582:T:C p.(Asp2698Gly) NC_000011.10:6623582:T:C Identity +NM_032656.4:c.1941C>A NP_116045.2:p.Asp647Glu NC_000012.12:124964497:G:T p.(Asp647Glu) NC_000012.12:124964497:G:T p.(Asp647Glu) NC_000012.12:124964497:G:T Identity +NM_017759.5:c.1246T>A NP_060229.3:p.Cys416Ser NC_000002.12:206028162:A:T p.(Cys416Ser) NC_000002.12:206028162:A:T p.(Cys416Ser) NC_000002.12:206028162:A:T Identity +NM_003007.5:c.1243C>G NP_002998.1:p.Gln415Glu NC_000020.11:45208539:C:G p.(Gln415Glu) NC_000020.11:45208539:C:G p.(Gln415Glu) NC_000020.11:45208539:C:G Identity +NM_001135771.3:c.450G>T NP_001129243.1:p.Glu150Asp NC_000020.11:37203950:G:T p.(Glu150Asp) NC_000020.11:37203950:G:T p.(Glu150Asp) NC_000020.11:37203950:G:T Identity +NM_002196.3:c.37T>G NP_002187.1:p.Ser13Ala NC_000020.11:20368303:T:G p.(Ser13Ala) NC_000020.11:20368303:T:G p.(Ser13Ala) NC_000020.11:20368303:T:G Identity +NM_001319988.2:c.1531A>G NP_001306917.1:p.Thr511Ala NC_000012.12:102195347:A:G p.(Thr511Ala) NC_000012.12:102195347:A:G p.(Thr511Ala) NC_000012.12:102195347:A:G Identity +NM_001853.4:c.5C>A NP_001844.3:p.Ala2Asp NC_000020.11:62817068:C:A p.(Ala2Asp) NC_000020.11:62817068:C:A p.(Ala2Asp) NC_000020.11:62817068:C:A Identity +NM_080284.3:c.3470C>T NP_525023.2:p.Thr1157Ile NC_000017.11:69091200:G:A p.(Thr1157Ile) NC_000017.11:69091200:G:A p.(Thr1157Ile) NC_000017.11:69091200:G:A Identity +NM_015042.2:c.2806G>A NP_055857.1:p.Glu936Lys NC_000015.10:64675659:G:A p.(Glu936Lys) NC_000015.10:64675659:G:A p.(Glu936Lys) NC_000015.10:64675659:G:A Identity +NM_001081.4:c.7120T>C NP_001072.2:p.Tyr2374His NC_000010.11:16915910:A:G p.(Tyr2374His) NC_000010.11:16915910:A:G p.(Tyr2374His) NC_000010.11:16915910:A:G Identity +NM_001407.3:c.3196G>T NP_001398.2:p.Val1066Phe NC_000003.12:48659438:C:A p.(Val1066Phe) NC_000003.12:48659438:C:A p.(Val1066Phe) NC_000003.12:48659438:C:A Identity +NM_001039753.4:c.2576G>T NP_001034842.2:p.Ser859Ile NC_000002.12:54892489:G:T p.(Ser859Ile) NC_000002.12:54892489:G:T p.(Ser859Ile) NC_000002.12:54892489:G:T Identity +NM_001204835.3:c.1257T>G NP_001191764.1:p.Cys419Trp NC_000019.10:36950412:T:G p.(Cys419Trp) NC_000019.10:36950412:T:G p.(Cys419Trp) NC_000019.10:36950412:T:G Identity +NM_033396.3:c.3746A>G NP_203754.2:p.Gln1249Arg NC_000011.10:57308964:T:C p.(Gln1249Arg) NC_000011.10:57308964:T:C p.(Gln1249Arg) NC_000011.10:57308964:T:C Identity +NM_001018037.2:c.3280G>A NP_001018047.1:p.Ala1094Thr NC_000009.12:77293397:G:A p.(Ala1094Thr) NC_000009.12:77293397:G:A p.(Ala1094Thr) NC_000009.12:77293397:G:A Identity +NM_001271534.3:c.5318C>A NP_001258463.1:p.Pro1773His NC_000021.9:40044142:G:T p.(Pro1773His) NC_000021.9:40044142:G:T p.(Pro1773His) NC_000021.9:40044142:G:T Identity +NM_001127255.2:c.1672C>T NP_001120727.1:p.His558Tyr NC_000019.10:54939146:G:A p.(His558Tyr) NC_000019.10:54939146:G:A p.(His558Tyr) NC_000019.10:54939146:G:A Identity +NM_001330452.2:c.313G>A NP_001317381.1:p.Val105Ile NC_000012.12:113207853:C:T p.(Val105Ile) NC_000012.12:113207853:C:T p.(Val105Ile) NC_000012.12:113207853:C:T Identity +NM_005886.3:c.1015C>T NP_005877.2:p.Arg339Trp NC_000016.10:57753235:C:T p.(Arg339Trp) NC_000016.10:57753235:C:T p.(Arg339Trp) NC_000016.10:57753235:C:T Identity +NM_017970.4:c.1582C>A NP_060440.2:p.Pro528Thr NC_000014.9:90298343:G:T p.(Pro528Thr) NC_000014.9:90298343:G:T p.(Pro528Thr) NC_000014.9:90298343:G:T Identity +NM_005493.3:c.479A>C NP_005484.2:p.Glu160Ala NC_000006.12:13711026:T:G p.(Glu160Ala) NC_000006.12:13711026:T:G p.(Glu160Ala) NC_000006.12:13711026:T:G Identity +NM_001377488.1:c.3884A>G NP_001364417.1:p.Glu1295Gly NC_000001.11:232439254:T:C p.(Glu1295Gly) NC_000001.11:232439254:T:C p.(Glu1295Gly) NC_000001.11:232439254:T:C Identity +NM_001316361.3:c.1168G>C NP_001303290.1:p.Gly390Arg NC_000020.11:53975402:C:G p.(Gly390Arg) NC_000020.11:53975402:C:G p.(Gly390Arg) NC_000020.11:53975402:C:G Identity +NM_001346445.2:c.11345A>G NP_001333374.1:p.Lys3782Arg NC_000011.10:62523071:T:C p.(Lys3782Arg) NC_000011.10:62523071:T:C p.(Lys3782Arg) NC_000011.10:62523071:T:C Identity +NM_001301138.3:c.893C>G NP_001288067.1:p.Ala298Gly NC_000015.10:42178317:G:C p.(Ala298Gly) NC_000015.10:42178317:G:C p.(Ala298Gly) NC_000015.10:42178317:G:C Identity +NM_000537.4:c.914T>C NP_000528.1:p.Ile305Thr NC_000001.11:204156223:A:G p.(Ile305Thr) NC_000001.11:204156223:A:G p.(Ile305Thr) NC_000001.11:204156223:A:G Identity +NM_001286423.2:c.149C>T NP_001273352.1:p.Ser50Phe NC_000002.12:219243237:G:A p.(Ser50Phe) NC_000002.12:219243237:G:A p.(Ser50Phe) NC_000002.12:219243237:G:A Identity +NM_014675.5:c.922C>T NP_055490.4:p.Arg308Trp NC_000001.11:16931362:C:T p.(Arg308Trp) NC_000001.11:16931362:C:T p.(Arg308Trp) NC_000001.11:16931362:C:T Identity +NM_001025930.5:c.2726C>T NP_001021100.3:p.Pro909Leu NC_000003.12:9835466:C:T p.(Pro909Leu) NC_000003.12:9835466:C:T p.(Pro909Leu) NC_000003.12:9835466:C:T Identity +NM_001320537.2:c.403C>T NP_001307466.1:p.Leu135Phe NC_000021.9:42539563:C:T p.(Leu135Phe) NC_000021.9:42539563:C:T p.(Leu135Phe) NC_000021.9:42539563:C:T Identity +NM_153234.5:c.35T>C NP_694966.3:p.Ile12Thr NC_000005.10:97142541:A:G p.(Ile12Thr) NC_000005.10:97142541:A:G p.(Ile12Thr) NC_000005.10:97142541:A:G Identity +NM_001379313.1:c.273C>A NP_001366242.1:p.Asp91Glu NC_000003.12:133807768:C:A p.(Asp91Glu) NC_000003.12:133807768:C:A p.(Asp91Glu) NC_000003.12:133807768:C:A Identity +NM_000540.3:c.97A>C NP_000531.2:p.Lys33Gln NC_000019.10:38440795:A:C p.(Lys33Gln) NC_000019.10:38440795:A:C p.(Lys33Gln) NC_000019.10:38440795:A:C Identity +NM_001136537.3:c.539T>C NP_001130009.1:p.Leu180Pro NC_000001.11:44813192:T:C p.(Leu180Pro) NC_000001.11:44813192:T:C p.(Leu180Pro) NC_000001.11:44813192:T:C Identity +NM_001145124.1:c.1390G>C NP_001138596.1:p.Gly464Arg NC_000009.12:87921296:G:C p.(Gly464Arg) NC_000009.12:87921296:G:C p.(Gly464Arg) NC_000009.12:87921296:G:C Identity +NM_001040105.2:c.2135C>T NP_001035194.1:p.Pro712Leu NC_000007.14:101033550:C:T p.(Pro712Leu) NC_000007.14:101033550:C:T p.(Pro712Leu) NC_000007.14:101033550:C:T Identity +NM_001296.5:c.742G>A NP_001287.2:p.Ala248Thr NC_000003.12:42865243:G:A p.(Ala248Thr) NC_000003.12:42865243:G:A p.(Ala248Thr) NC_000003.12:42865243:G:A Identity +NM_001331164.2:c.338G>A NP_001318093.1:p.Arg113His NC_000014.9:59483978:C:T p.(Arg113His) NC_000014.9:59483978:C:T p.(Arg113His) NC_000014.9:59483978:C:T Identity +NM_032509.4:c.164A>C NP_115898.2:p.Lys55Thr NC_000008.11:33488617:A:C p.(Lys55Thr) NC_000008.11:33488617:A:C p.(Lys55Thr) NC_000008.11:33488617:A:C Identity +NM_002412.5:c.245C>T NP_002403.3:p.Pro82Leu NC_000010.11:129708013:C:T p.(Pro82Leu) NC_000010.11:129708013:C:T p.(Pro82Leu) NC_000010.11:129708013:C:T Identity +NM_001136153.2:c.346G>A NP_001129625.1:p.Gly116Arg NC_000006.12:32126239:C:T p.(Gly116Arg) NC_000006.12:32126239:C:T p.(Gly116Arg) NC_000006.12:32126239:C:T Identity +NM_001003694.2:c.2509C>T NP_001003694.1:p.Arg837Cys NC_000003.12:9743774:C:T p.(Arg837Cys) NC_000003.12:9743774:C:T p.(Arg837Cys) NC_000003.12:9743774:C:T Identity +NM_001204284.2:c.391G>T NP_001191213.1:p.Asp131Tyr NC_000019.10:46375630:G:T p.(Asp131Tyr) NC_000019.10:46375630:G:T p.(Asp131Tyr) NC_000019.10:46375630:G:T Identity +NM_153213.5:c.975G>T NP_694945.2:p.Glu325Asp NC_000001.11:16207109:C:A p.(Glu325Asp) NC_000001.11:16207109:C:A p.(Glu325Asp) NC_000001.11:16207109:C:A Identity +NM_001346105.2:c.167C>G NP_001333034.1:p.Ala56Gly NC_000019.10:327957:G:C p.(Ala56Gly) NC_000019.10:327957:G:C p.(Ala56Gly) NC_000019.10:327957:G:C Identity +NM_003728.4:c.686C>T NP_003719.3:p.Ala229Val NC_000004.12:95250575:G:A p.(Ala229Val) NC_000004.12:95250575:G:A p.(Ala229Val) NC_000004.12:95250575:G:A Identity +NM_015378.4:c.11041A>G NP_056193.2:p.Ile3681Val NC_000001.11:12378550:A:G p.(Ile3681Val) NC_000001.11:12378550:A:G p.(Ile3681Val) NC_000001.11:12378550:A:G Identity +NM_000466.3:c.3440G>C NP_000457.1:p.Ser1147Thr NC_000007.14:92489909:C:G p.(Ser1147Thr) NC_000007.14:92489909:C:G p.(Ser1147Thr) NC_000007.14:92489909:C:G Identity +NM_001898.3:c.286A>G NP_001889.2:p.Lys96Glu NC_000020.11:23749071:T:C p.(Lys96Glu) NC_000020.11:23749071:T:C p.(Lys96Glu) NC_000020.11:23749071:T:C Identity +NM_080866.3:c.131T>C NP_543142.2:p.Ile44Thr NC_000011.10:63370186:T:C p.(Ile44Thr) NC_000011.10:63370186:T:C p.(Ile44Thr) NC_000011.10:63370186:T:C Identity +NM_001290321.3:c.8222C>T NP_001277250.1:p.Thr2741Ile NC_000005.10:119221025:C:T p.(Thr2741Ile) NC_000005.10:119221025:C:T p.(Thr2741Ile) NC_000005.10:119221025:C:T Identity +NM_001317770.3:c.528C>G NP_001304699.2:p.Leu176= NC_000019.10:39397693:C:G p.(Leu176=) NC_000019.10:39397693:C:G p.(Leu176=) NC_000019.10:39397693:C:G Identity +NM_004860.4:c.1489C>T NP_004851.2:p.Arg497Trp NC_000017.11:7593022:G:A p.(Arg497Trp) NC_000017.11:7593022:G:A p.(Arg497Trp) NC_000017.11:7593022:G:A Identity +NM_001004739.1:c.644T>G NP_001004739.1:p.Leu215Arg NC_000011.10:55827861:T:G p.(Leu215Arg) NC_000011.10:55827861:T:G p.(Leu215Arg) NC_000011.10:55827861:T:G Identity +NM_001286631.2:c.332C>T NP_001273560.1:p.Thr111Ile NC_000013.11:79371925:G:A p.(Thr111Ile) NC_000013.11:79371925:G:A p.(Thr111Ile) NC_000013.11:79371925:G:A Identity +NM_002830.4:c.95A>C NP_002821.1:p.Asn32Thr NC_000002.12:119809947:A:C p.(Asn32Thr) NC_000002.12:119809947:A:C p.(Asn32Thr) NC_000002.12:119809947:A:C Identity +NM_018663.3:c.98C>T NP_061133.1:p.Pro33Leu NC_000012.12:132687767:C:T p.(Pro33Leu) NC_000012.12:132687767:C:T p.(Pro33Leu) NC_000012.12:132687767:C:T Identity +NM_001141979.3:c.979C>A NP_001135451.1:p.Pro327Thr NC_000015.10:43475670:G:T p.(Pro327Thr) NC_000015.10:43475670:G:T p.(Pro327Thr) NC_000015.10:43475670:G:T Identity +NM_182699.4:c.365A>C NP_874358.2:p.Glu122Ala NC_000023.11:23000421:A:C p.(Glu122Ala) NC_000023.11:23000421:A:C p.(Glu122Ala) NC_000023.11:23000421:A:C Identity +NM_025211.4:c.701A>T NP_079487.2:p.Asn234Ile NC_000009.12:83768854:T:A p.(Asn234Ile) NC_000009.12:83768854:T:A p.(Asn234Ile) NC_000009.12:83768854:T:A Identity +NM_032138.7:c.1088C>T NP_115514.2:p.Ser363Leu NC_000013.11:41193169:G:A p.(Ser363Leu) NC_000013.11:41193169:G:A p.(Ser363Leu) NC_000013.11:41193169:G:A Identity +NM_001379226.1:c.2410G>A NP_001366155.1:p.Glu804Lys NC_000011.10:70486745:C:T p.(Glu804Lys) NC_000011.10:70486745:C:T p.(Glu804Lys) NC_000011.10:70486745:C:T Identity +NM_001171201.1:c.1303C>G NP_001164672.1:p.Gln435Glu NC_000009.12:34249805:C:G p.(Gln435Glu) NC_000009.12:34249805:C:G p.(Gln435Glu) NC_000009.12:34249805:C:G Identity +NM_001204456.2:c.1841A>G NP_001191385.1:p.His614Arg NC_000007.14:5065296:A:G p.(His614Arg) NC_000007.14:5065296:A:G p.(His614Arg) NC_000007.14:5065296:A:G Identity +NM_003890.3:c.15033C>A NP_003881.2:p.Phe5011Leu NC_000019.10:39872396:G:T ERR:Validation error: Coordinate out of bounds: index 15048 is beyond transcript length 12834 ERR:Validation error: Transcript position out of exon bounds ERR:c.15033 coordinate is out of bounds ERR:c.15033 coordinate is out of bounds Unknown +NM_005561.4:c.582C>A NP_005552.3:p.Asp194Glu NC_000013.11:113319487:C:A p.(Asp194Glu) NC_000013.11:113319487:C:A p.(Asp194Glu) NC_000013.11:113319487:C:A Identity +NM_001145657.3:c.1679C>T NP_001139129.1:p.Ser560Leu NC_000001.11:21601734:G:A p.(Ser560Leu) NC_000001.11:21601734:G:A p.(Ser560Leu) NC_000001.11:21601734:G:A Identity +NM_001374438.1:c.712C>G NP_001361367.1:p.Gln238Glu NC_000018.10:49331914:G:C p.(Gln238Glu) NC_000018.10:49331914:G:C p.(Gln238Glu) NC_000018.10:49331914:G:C Identity +NM_001204416.3:c.532G>C NP_001191345.1:p.Val178Leu NC_000014.9:72470078:G:C p.(Val178Leu) NC_000014.9:72470078:G:C p.(Val178Leu) NC_000014.9:72470078:G:C Identity +NM_001135691.3:c.220G>A NP_001129163.1:p.Ala74Thr NC_000008.11:20179388:C:T p.(Ala74Thr) NC_000008.11:20179388:C:T p.(Ala74Thr) NC_000008.11:20179388:C:T Identity +NM_001004439.2:c.2215A>C NP_001004439.1:p.Thr739Pro NC_000015.10:68325237:T:G p.(Thr739Pro) NC_000015.10:68325237:T:G p.(Thr739Pro) NC_000015.10:68325237:T:G Identity +NM_001256012.3:c.3994A>G NP_001242941.1:p.Lys1332Glu NC_000017.11:8495198:T:C p.(Lys1332Glu) NC_000017.11:8495198:T:C p.(Lys1332Glu) NC_000017.11:8495198:T:C Identity +NM_007192.4:c.3125C>T NP_009123.1:p.Pro1042Leu NC_000014.9:21352691:G:A p.(Pro1042Leu) NC_000014.9:21352691:G:A p.(Pro1042Leu) NC_000014.9:21352691:G:A Identity +NM_001313741.1:c.796A>G NP_001300670.1:p.Arg266Gly NC_000013.11:25551361:A:G p.(Arg266Gly) NC_000013.11:25551361:A:G p.(Arg266Gly) NC_000013.11:25551361:A:G Identity +NM_174978.3:c.1018A>G NP_777638.3:p.Ile340Val NC_000014.9:60461547:T:C p.(Ile340Val) NC_000014.9:60461547:T:C p.(Ile340Val) NC_000014.9:60461547:T:C Identity +NM_005064.6:c.277A>G NP_005055.3:p.Ser93Gly NC_000017.11:36013768:T:C p.(Ser93Gly) NC_000017.11:36013768:T:C p.(Ser93Gly) NC_000017.11:36013768:T:C Identity +NM_144658.4:c.118G>T NP_653259.3:p.Val40Phe NC_000023.11:118542739:G:T p.(Val40Phe) NC_000023.11:118542739:G:T p.(Val40Phe) NC_000023.11:118542739:G:T Identity +NM_001109662.4:c.898T>A NP_001103132.4:p.Ser300Thr NC_000012.12:112313034:A:T p.(Ser300Thr) NC_000012.12:112313034:A:T p.(Ser300Thr) NC_000012.12:112313034:A:T Identity +NM_032139.3:c.890C>G NP_115515.2:p.Ser297Cys NC_000019.10:32642037:G:C p.(Ser297Cys) NC_000019.10:32642037:G:C p.(Ser297Cys) NC_000019.10:32642037:G:C Identity +NM_032251.6:c.491G>T NP_115627.6:p.Ser164Ile NC_000011.10:64341463:G:T p.(Ser164Ile) NC_000011.10:64341463:G:T p.(Ser164Ile) NC_000011.10:64341463:G:T Identity +NM_005561.4:c.53T>C NP_005552.3:p.Leu18Pro NC_000013.11:113297486:T:C p.(Leu18Pro) NC_000013.11:113297486:T:C p.(Leu18Pro) NC_000013.11:113297486:T:C Identity +NM_001099439.2:c.2029C>T NP_001092909.1:p.His677Tyr NC_000001.11:37721776:G:A p.(His677Tyr) NC_000001.11:37721776:G:A p.(His677Tyr) NC_000001.11:37721776:G:A Identity +NM_001172811.2:c.688C>T NP_001166282.1:p.Pro230Ser NC_000008.11:117171038:C:T p.(Pro230Ser) NC_000008.11:117171038:C:T p.(Pro230Ser) NC_000008.11:117171038:C:T Identity +NM_001080434.2:c.3449T>C NP_001073903.2:p.Leu1150Pro NC_000019.10:48497619:A:G p.(Leu1150Pro) NC_000019.10:48497619:A:G p.(Leu1150Pro) NC_000019.10:48497619:A:G Identity +NM_001301683.2:c.754C>T NP_001288612.1:p.Arg252Trp NC_000010.11:69198494:C:T p.(Arg252Trp) NC_000010.11:69198494:C:T p.(Arg252Trp) NC_000010.11:69198494:C:T Identity +NM_001278595.2:c.1105C>T NP_001265524.1:p.Arg369Trp NC_000007.14:100095432:G:A p.(Arg369Trp) NC_000007.14:100095432:G:A p.(Arg369Trp) NC_000007.14:100095432:G:A Identity +NM_001286191.2:c.395C>T NP_001273120.1:p.Ser132Leu NC_000012.12:121006379:G:A p.(Ser132Leu) NC_000012.12:121006379:G:A p.(Ser132Leu) NC_000012.12:121006379:G:A Identity +NM_207341.4:c.697C>G NP_997224.2:p.Gln233Glu NC_000011.10:60870345:C:G p.(Gln233Glu) NC_000011.10:60870345:C:G p.(Gln233Glu) NC_000011.10:60870345:C:G Identity +NM_182701.1:c.139A>G NP_874360.1:p.Thr47Ala NC_000006.12:28510852:T:C p.(Thr47Ala) NC_000006.12:28510852:T:C p.? NC_000006.12:28510852:T:C Identity +NM_001184772.3:c.865G>T NP_001171701.1:p.Ala289Ser NC_000023.11:130013636:G:T p.(Ala289Ser) NC_000023.11:130013636:G:T p.(Ala289Ser) NC_000023.11:130013636:G:T Identity +NM_022158.4:c.847T>C NP_071441.1:p.Phe283Leu NC_000017.11:82750671:T:C p.(Phe283Leu) NC_000017.11:82750671:T:C p.(Phe283Leu) NC_000017.11:82750671:T:C Identity +NM_022078.3:c.619C>T NP_071361.2:p.Arg207Trp NC_000001.11:26897557:G:A p.(Arg207Trp) NC_000001.11:26897557:G:A p.(Arg207Trp) NC_000001.11:26897557:G:A Identity +NM_001340.5:c.886G>A NP_001331.1:p.Ala296Thr NC_000009.12:103005516:G:A p.(Ala296Thr) NC_000009.12:103005516:G:A p.(Ala296Thr) NC_000009.12:103005516:G:A Identity +NM_001098627.4:c.776G>A NP_001092097.2:p.Arg259Gln NC_000007.14:128947764:G:A p.(Arg259Gln) NC_000007.14:128947764:G:A p.(Arg259Gln) NC_000007.14:128947764:G:A Identity +NM_006402.3:c.203G>A NP_006393.2:p.Arg68His NC_000001.11:110407663:C:T p.(Arg68His) NC_000001.11:110407663:C:T p.(Arg68His) NC_000001.11:110407663:C:T Identity +NM_001178044.2:c.327G>C NP_001171515.1:p.Gln109His NC_000006.12:31874943:C:G p.(Gln109His) NC_000006.12:31874943:C:G p.(Gln109His) NC_000006.12:31874943:C:G Identity +NM_174924.2:c.1700A>T NP_777584.1:p.Lys567Met NC_000016.10:20359373:T:A p.(Lys567Met) NC_000016.10:20359373:T:A p.(Lys567Met) NC_000016.10:20359373:T:A Identity +NM_018012.4:c.611C>T NP_060482.2:p.Thr204Met NC_000001.11:245366978:C:T p.(Thr204Met) NC_000001.11:245366978:C:T p.(Thr204Met) NC_000001.11:245366978:C:T Identity +NM_001177310.2:c.4822G>A NP_001170781.1:p.Gly1608Arg NC_000009.12:74755421:C:T p.(Gly1608Arg) NC_000009.12:74755421:C:T p.(Gly1608Arg) NC_000009.12:74755421:C:T Identity +NM_001382817.3:c.983C>T NP_001369746.2:p.Thr328Ile NC_000001.11:230706046:G:A p.(Thr328Ile) NC_000001.11:230706046:G:A p.(Thr328Ile) NC_000001.11:230706046:G:A Identity +NM_001011719.2:c.329C>A NP_001011719.1:p.Thr110Lys NC_000023.11:3013160:C:A p.(Thr110Lys) NC_000023.11:3013160:C:A p.(Thr110Lys) NC_000023.11:3013160:C:A Identity +NM_001004727.1:c.443C>T NP_001004727.1:p.Ser148Phe NC_000011.10:48245545:C:T p.(Ser148Phe) NC_000011.10:48245545:C:T p.(Ser148Phe) NC_000011.10:48245545:C:T Identity +NM_005303.3:c.619C>T NP_005294.1:p.Arg207Trp NC_000019.10:35352169:C:T p.(Arg207Trp) NC_000019.10:35352169:C:T p.(Arg207Trp) NC_000019.10:35352169:C:T Identity +NM_001326542.2:c.1056G>C NP_001313471.1:p.Glu352Asp NC_000007.14:21430271:G:C p.(Glu352Asp) NC_000007.14:21430271:G:C p.(Glu352Asp) NC_000007.14:21430271:G:C Identity +NM_000235.4:c.325G>A NP_000226.2:p.Ala109Thr NC_000010.11:89228302:C:T p.(Ala109Thr) NC_000010.11:89228302:C:T p.(Ala109Thr) NC_000010.11:89228302:C:T Identity +NM_001278443.2:c.1046C>G NP_001265372.2:p.Thr349Ser NC_000019.10:17283842:C:G p.(Thr349Ser) NC_000019.10:17283842:C:G p.(Thr349Ser) NC_000019.10:17283842:C:G Identity +NM_001097599.2:c.229C>T NP_001091068.1:p.Pro77Ser NC_000003.12:136854688:C:T p.(Pro77Ser) NC_000003.12:136854688:C:T p.(Pro77Ser) NC_000003.12:136854688:C:T Identity +NM_001322253.2:c.4171C>A NP_001309182.1:p.Leu1391Met NC_000003.12:51663186:C:A p.(Leu1391Met) NC_000003.12:51663186:C:A p.(Leu1391Met) NC_000003.12:51663186:C:A Identity +NM_002204.4:c.686G>A NP_002195.1:p.Arg229His NC_000017.11:50070864:G:A p.(Arg229His) NC_000017.11:50070864:G:A p.(Arg229His) NC_000017.11:50070864:G:A Identity +NM_001098531.4:c.80G>C NP_001092001.2:p.Arg27Pro NC_000012.12:47758004:C:G p.(Arg27Pro) NC_000012.12:47758004:C:G p.(Arg27Pro) NC_000012.12:47758004:C:G Identity +NM_001001874.3:c.323A>G NP_001001874.2:p.Lys108Arg NC_000009.12:6328917:A:G p.(Lys108Arg) NC_000009.12:6328917:A:G p.(Lys108Arg) NC_000009.12:6328917:A:G Identity +NM_014755.3:c.425C>T NP_055570.1:p.Thr142Met NC_000002.12:64636446:G:A p.(Thr142Met) NC_000002.12:64636446:G:A p.(Thr142Met) NC_000002.12:64636446:G:A Identity +NM_032834.4:c.290G>A NP_116223.3:p.Arg97Lys NC_000012.12:34024079:G:A p.(Arg97Lys) NC_000012.12:34024079:G:A p.(Arg97Lys) NC_000012.12:34024079:G:A Identity +NM_181614.3:c.152C>T NP_853645.1:p.Pro51Leu NC_000021.9:30561137:G:A p.(Pro51Leu) NC_000021.9:30561137:G:A p.(Pro51Leu) NC_000021.9:30561137:G:A Identity +NM_001135191.2:c.1560T>G NP_001128663.1:p.Asn520Lys NC_000002.12:9374757:T:G p.(Asn520Lys) NC_000002.12:9374757:T:G p.(Asn520Lys) NC_000002.12:9374757:T:G Identity +NM_001001331.4:c.484A>T NP_001001331.1:p.Ile162Phe NC_000003.12:10402261:T:A p.(Ile162Phe) NC_000003.12:10402261:T:A p.(Ile162Phe) NC_000003.12:10402261:T:A Identity +NM_001136201.2:c.523C>A NP_001129673.1:p.Pro175Thr NC_000019.10:55455002:G:T p.(Pro175Thr) NC_000019.10:55455002:G:T p.(Pro175Thr) NC_000019.10:55455002:G:T Identity +NM_001375816.1:c.1768T>A NP_001362745.1:p.Ser590Thr NC_000004.12:10444560:A:T p.(Ser590Thr) NC_000004.12:10444560:A:T p.(Ser590Thr) NC_000004.12:10444560:A:T Identity +NM_001199527.3:c.1841T>A NP_001186456.2:p.Val614Glu NC_000021.9:42111278:T:A p.(Val614Glu) NC_000021.9:42111278:T:A p.(Val614Glu) NC_000021.9:42111278:T:A Identity +NM_002446.4:c.1972G>A NP_002437.2:p.Ala658Thr NC_000019.10:40213650:G:A p.(Ala658Thr) NC_000019.10:40213650:G:A p.(Ala658Thr) NC_000019.10:40213650:G:A Identity +NM_001193434.2:c.137G>T NP_001180363.1:p.Arg46Leu NC_000010.11:113768855:G:T p.(Arg46Leu) NC_000010.11:113768855:G:T p.(Arg46Leu) NC_000010.11:113768855:G:T Identity +NM_001171937.2:c.298G>A NP_001165408.1:p.Asp100Asn NC_000019.10:49811448:C:T p.(Asp100Asn) NC_000019.10:49811448:C:T p.(Asp100Asn) NC_000019.10:49811448:C:T Identity +NM_031415.3:c.1016A>T NP_113603.1:p.Asp339Val NC_000008.11:129750497:T:A p.(Asp339Val) NC_000008.11:129750497:T:A p.(Asp339Val) NC_000008.11:129750497:T:A Identity +NM_001206747.2:c.316G>A NP_001193676.1:p.Val106Ile NC_000007.14:116505986:G:A p.(Val106Ile) NC_000007.14:116505986:G:A p.(Val106Ile) NC_000007.14:116505986:G:A Identity +NM_001385028.1:c.2531C>T NP_001371957.1:p.Ala844Val NC_000015.10:65913915:G:A p.(Ala844Val) NC_000015.10:65913915:G:A p.(Ala844Val) NC_000015.10:65913915:G:A Identity +NM_001100117.3:c.2483T>C NP_001093587.1:p.Met828Thr NC_000008.11:103936657:T:C p.(Met828Thr) NC_000008.11:103936657:T:C p.(Met828Thr) NC_000008.11:103936657:T:C Identity +NM_016642.4:c.7499G>T NP_057726.4:p.Arg2500Leu NC_000015.10:41862178:C:A p.(Arg2500Leu) NC_000015.10:41862178:C:A p.(Arg2500Leu) NC_000015.10:41862178:C:A Identity +NM_001080428.3:c.580C>T NP_001073897.2:p.Leu194Phe NC_000005.10:167993148:C:T p.(Leu194Phe) NC_000005.10:167993148:C:T p.(Leu194Phe) NC_000005.10:167993148:C:T Identity +NM_001271854.2:c.792C>G NP_001258783.1:p.His264Gln NC_000015.10:39801884:G:C p.(His264Gln) NC_000015.10:39801884:G:C p.(His264Gln) NC_000015.10:39801884:G:C Identity +NM_175922.4:c.26C>T NP_787118.2:p.Pro9Leu NC_000006.12:166308116:G:A p.(Pro9Leu) NC_000006.12:166308116:G:A p.(Pro9Leu) NC_000006.12:166308116:G:A Identity +NM_016333.4:c.2578G>A NP_057417.3:p.Ala860Thr NC_000016.10:2763105:G:A p.(Ala860Thr) NC_000016.10:2763105:G:A p.(Ala860Thr) NC_000016.10:2763105:G:A Identity +NM_001308220.2:c.665C>T NP_001295149.2:p.Thr222Ile NC_000016.10:23705071:G:A p.(Thr222Ile) NC_000016.10:23705071:G:A p.(Thr222Ile) NC_000016.10:23705071:G:A Identity +NM_032532.3:c.5179T>C NP_115921.2:p.Tyr1727His NC_000006.12:159261193:T:C p.(Tyr1727His) NC_000006.12:159261193:T:C p.(Tyr1727His) NC_000006.12:159261193:T:C Identity +NM_052909.5:c.2530C>A NP_443141.4:p.Gln844Lys NC_000005.10:161824:C:A p.(Gln844Lys) NC_000005.10:161824:C:A p.(Gln844Lys) NC_000005.10:161824:C:A Identity +NM_001037497.2:c.32A>C NP_001032586.1:p.His11Pro NC_000006.12:50021903:T:G p.(His11Pro) NC_000006.12:50021903:T:G p.(His11Pro) NC_000006.12:50021903:T:G Identity +NM_178011.5:c.1187C>T NP_821079.3:p.Pro396Leu NC_000010.11:66928102:C:T p.(Pro396Leu) NC_000010.11:66928102:C:T p.(Pro396Leu) NC_000010.11:66928102:C:T Identity +NM_001258291.2:c.1516T>G NP_001245220.1:p.Cys506Gly NC_000016.10:31142485:A:C p.(Cys506Gly) NC_000016.10:31142485:A:C p.(Cys506Gly) NC_000016.10:31142485:A:C Identity +NM_017934.7:c.1220C>G NP_060404.4:p.Ala407Gly NC_000006.12:79016558:G:C p.(Ala407Gly) NC_000006.12:79016558:G:C p.(Ala407Gly) NC_000006.12:79016558:G:C Identity +NM_001195731.2:c.1357G>A NP_001182660.2:p.Gly453Arg NC_000002.12:219539867:C:T p.(Gly453Arg) NC_000002.12:219539867:C:T p.(Gly453Arg) NC_000002.12:219539867:C:T Identity +NM_001323623.2:c.176C>T NP_001310552.1:p.Pro59Leu NC_000001.11:37592779:G:A p.(Pro59Leu) NC_000001.11:37592779:G:A p.(Pro59Leu) NC_000001.11:37592779:G:A Identity +NM_001256007.3:c.1267G>A NP_001242936.1:p.Ala423Thr NC_000007.14:108502581:C:T p.(Ala423Thr) NC_000007.14:108502581:C:T p.(Ala423Thr) NC_000007.14:108502581:C:T Identity +NM_001281956.2:c.376C>T NP_001268885.1:p.Pro126Ser NC_000001.11:34089004:G:A p.(Pro126Ser) NC_000001.11:34089004:G:A p.(Pro126Ser) NC_000001.11:34089004:G:A Identity +NM_001289177.2:c.1039G>A NP_001276106.1:p.Val347Met NC_000019.10:6182882:G:A p.(Val347Met) NC_000019.10:6182882:G:A p.(Val347Met) NC_000019.10:6182882:G:A Identity +NM_001267827.2:c.2299T>A NP_001254756.1:p.Ser767Thr NC_000014.9:102342041:T:A p.(Ser767Thr) NC_000014.9:102342041:T:A p.(Ser767Thr) NC_000014.9:102342041:T:A Identity +NM_001346218.2:c.4712C>T NP_001333147.1:p.Ser1571Leu NC_000014.9:93621794:C:T p.(Ser1571Leu) NC_000014.9:93621794:C:T p.(Ser1571Leu) NC_000014.9:93621794:C:T Identity +NM_001368062.3:c.3085C>A NP_001354991.2:p.Leu1029Ile NC_000012.12:80305581:C:A p.(Leu1029Ile) NC_000012.12:80305581:C:A p.(Leu1029Ile) NC_000012.12:80305581:C:A Identity +NM_021819.3:c.1385A>G NP_068591.2:p.Gln462Arg NC_000015.10:74824411:A:G p.(Gln462Arg) NC_000015.10:74824411:A:G p.(Gln462Arg) NC_000015.10:74824411:A:G Identity +NM_000151.4:c.830C>T NP_000142.2:p.Ser277Phe NC_000017.11:42911181:C:T p.(Ser277Phe) NC_000017.11:42911181:C:T p.(Ser277Phe) NC_000017.11:42911181:C:T Identity +NM_001012981.5:c.610G>A NP_001012999.3:p.Ala204Thr NC_000016.10:25253013:C:T p.(Ala204Thr) NC_000016.10:25253013:C:T p.(Ala204Thr) NC_000016.10:25253013:C:T Identity +NM_001304808.3:c.1694C>G NP_001291737.1:p.Thr565Ser NC_000022.11:49798648:G:C p.(Thr565Ser) NC_000022.11:49798648:G:C p.(Thr565Ser) NC_000022.11:49798648:G:C Identity +NM_020414.4:c.1103A>C NP_065147.1:p.Asn368Thr NC_000014.9:94062236:T:G p.(Asn368Thr) NC_000014.9:94062236:T:G p.(Asn368Thr) NC_000014.9:94062236:T:G Identity +NM_001393376.1:c.2071G>A NP_001380305.1:p.Glu691Lys NC_000003.12:74301421:C:T p.(Glu691Lys) NC_000003.12:74301421:C:T p.(Glu691Lys) NC_000003.12:74301421:C:T Identity +NM_001297614.3:c.1648C>T NP_001284543.1:p.Pro550Ser NC_000006.12:85533733:G:A p.(Pro550Ser) NC_000006.12:85533733:G:A p.(Pro550Ser) NC_000006.12:85533733:G:A Identity +NM_080746.3:c.490A>G NP_542784.1:p.Lys164Glu NC_000014.9:46651246:T:C p.(Lys164Glu) NC_000014.9:46651246:T:C p.(Lys164Glu) NC_000014.9:46651246:T:C Identity +NM_033225.6:c.5453A>T NP_150094.5:p.Tyr1818Phe NC_000008.11:3188956:T:A p.(Tyr1818Phe) NC_000008.11:3188956:T:A p.(Tyr1818Phe) NC_000008.11:3188956:T:A Identity +NM_152445.3:c.1100G>A NP_689658.3:p.Arg367Gln NC_000014.9:73942540:C:T p.(Arg367Gln) NC_000014.9:73942540:C:T p.(Arg367Gln) NC_000014.9:73942540:C:T Identity +NM_152527.5:c.1061C>T NP_689740.2:p.Pro354Leu NC_000002.12:230046064:G:A p.(Pro354Leu) NC_000002.12:230046064:G:A p.(Pro354Leu) NC_000002.12:230046064:G:A Identity +NM_032138.7:c.95C>T NP_115514.2:p.Ala32Val NC_000013.11:41194162:G:A p.(Ala32Val) NC_000013.11:41194162:G:A p.(Ala32Val) NC_000013.11:41194162:G:A Identity +NM_001130715.2:c.314A>G NP_001124187.1:p.Asp105Gly NC_000004.12:83094720:T:C p.(Asp105Gly) NC_000004.12:83094720:T:C p.(Asp105Gly) NC_000004.12:83094720:T:C Identity +NM_001410746.1:c.1258G>A NP_001397675.1:p.Glu420Lys NC_000003.12:42659528:G:A p.(Glu420Lys) NC_000003.12:42659528:G:A p.(Glu420Lys) NC_000003.12:42659528:G:A Identity +NM_001286547.3:c.413C>T NP_001273476.1:p.Thr138Met NC_000012.12:75316396:G:A p.(Thr138Met) NC_000012.12:75316396:G:A p.(Thr138Met) NC_000012.12:75316396:G:A Identity +NM_021240.4:c.356A>C NP_067063.1:p.Gln119Pro NC_000009.12:977356:A:C p.(Gln119Pro) NC_000009.12:977356:A:C p.(Gln119Pro) NC_000009.12:977356:A:C Identity +NM_015230.4:c.1775G>A NP_056045.2:p.Gly592Glu NC_000004.12:36177908:C:T p.(Gly592Glu) NC_000004.12:36177908:C:T p.(Gly592Glu) NC_000004.12:36177908:C:T Identity +NM_001145303.3:c.637C>T NP_001138775.2:p.His213Tyr NC_000019.10:54168503:G:A p.(His213Tyr) NC_000019.10:54168503:G:A p.(His213Tyr) NC_000019.10:54168503:G:A Identity +NM_020693.4:c.6029C>A NP_065744.3:p.Pro2010His NC_000011.10:117428460:G:T p.(Pro2010His) NC_000011.10:117428460:G:T p.(Pro2010His) NC_000011.10:117428460:G:T Identity +NM_032319.3:c.202G>T NP_115695.1:p.Ala68Ser NC_000002.12:73229536:C:A p.(Ala68Ser) NC_000002.12:73229536:C:A p.(Ala68Ser) NC_000002.12:73229536:C:A Identity +NM_001363147.1:c.530A>G NP_001350076.1:p.Tyr177Cys NC_000005.10:71604373:A:G p.(Tyr177Cys) NC_000005.10:71604373:A:G p.(Tyr177Cys) NC_000005.10:71604373:A:G Identity +NM_001127381.1:c.490C>T NP_001120853.1:p.Pro164Ser NC_000005.10:146650681:G:A ERR:Data provider error: ValueError: Transcript NM_001127381.1 not found ERR:Data provider error: ValueError: Transcript NM_001127381.1 not found ERR:AlignmentMapper(tx_ac=NM_001127381.1, alt_ac=NM_001127381.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127381.1, alt_ac=NM_001127381.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127381.1 not found +NM_001080429.3:c.2522C>T NP_001073898.1:p.Ser841Leu NC_000019.10:7612933:C:T p.(Ser841Leu) NC_000019.10:7612933:C:T p.(Ser841Leu) NC_000019.10:7612933:C:T Identity +NM_018072.6:c.3584C>T NP_060542.4:p.Ser1195Phe NC_000001.11:236572533:G:A p.(Ser1195Phe) NC_000001.11:236572533:G:A p.(Ser1195Phe) NC_000001.11:236572533:G:A Identity +NM_001400530.1:c.1070C>T NP_001387459.1:p.Thr357Ile NC_000003.12:9688964:C:T p.(Thr357Ile) NC_000003.12:9688964:C:T p.(Thr357Ile) NC_000003.12:9688964:C:T Identity +NM_001301687.2:c.406G>C NP_001288616.1:p.Gly136Arg NC_000002.12:236167565:C:G p.(Gly136Arg) NC_000002.12:236167565:C:G p.(Gly136Arg) NC_000002.12:236167565:C:G Identity +NM_001143995.3:c.427G>A NP_001137467.1:p.Glu143Lys NC_000011.10:58551138:C:T p.(Glu143Lys) NC_000011.10:58551138:C:T p.(Glu143Lys) NC_000011.10:58551138:C:T Identity +NM_016001.3:c.1105G>A NP_057085.2:p.Ala369Thr NC_000017.11:51280096:G:A p.(Ala369Thr) NC_000017.11:51280096:G:A p.(Ala369Thr) NC_000017.11:51280096:G:A Identity +NM_001079559.3:c.850A>G NP_001073027.1:p.Thr284Ala NC_000011.10:62723627:T:C p.(Thr284Ala) NC_000011.10:62723627:T:C p.(Thr284Ala) NC_000011.10:62723627:T:C Identity +NM_178229.5:c.800A>G NP_839943.3:p.Asp267Gly NC_000001.11:156562663:T:C p.(Asp267Gly) NC_000001.11:156562663:T:C p.(Asp267Gly) NC_000001.11:156562663:T:C Identity +NM_001220488.2:c.61T>C NP_001207417.1:p.Cys21Arg NC_000016.10:82627117:T:C p.(Cys21Arg) NC_000016.10:82627117:T:C p.(Cys21Arg) NC_000016.10:82627117:T:C Identity +NM_001372.4:c.4831G>A NP_001363.2:p.Asp1611Asn NC_000017.11:11694405:G:A p.(Asp1611Asn) NC_000017.11:11694405:G:A p.(Asp1611Asn) NC_000017.11:11694405:G:A Identity +NM_001145088.2:c.421G>A NP_001138560.1:p.Ala141Thr NC_000008.11:123084241:G:A p.(Ala141Thr) NC_000008.11:123084241:G:A p.(Ala141Thr) NC_000008.11:123084241:G:A Identity +NM_001128310.3:c.325G>A NP_001121782.1:p.Val109Met NC_000004.12:87494474:C:T p.(Val109Met) NC_000004.12:87494474:C:T p.(Val109Met) NC_000004.12:87494474:C:T Identity +NM_020754.4:c.2875C>T NP_065805.2:p.Pro959Ser NC_000003.12:119414803:C:T p.(Pro959Ser) NC_000003.12:119414803:C:T p.(Pro959Ser) NC_000003.12:119414803:C:T Identity +NM_198471.3:c.1924C>T NP_940873.2:p.Leu642Phe NC_000019.10:8333025:G:A p.(Leu642Phe) NC_000019.10:8333025:G:A p.(Leu642Phe) NC_000019.10:8333025:G:A Identity +NM_001039548.3:c.1667G>A NP_001034637.2:p.Ser556Asn NC_000011.10:75422664:C:T p.(Ser556Asn) NC_000011.10:75422664:C:T p.(Ser556Asn) NC_000011.10:75422664:C:T Identity +NM_032782.5:c.385A>G NP_116171.3:p.Ile129Val NC_000005.10:157106635:T:C p.(Ile129Val) NC_000005.10:157106635:T:C p.(Ile129Val) NC_000005.10:157106635:T:C Identity +NM_001308025.1:c.3287C>T NP_001294954.1:p.Ser1096Leu NC_000015.10:89621527:C:T p.(Ser1096Leu) NC_000015.10:89621527:C:T p.(Ser1096Leu) NC_000015.10:89621527:C:T Identity +NM_207363.3:c.3638C>T NP_997246.2:p.Ser1213Leu NC_000002.12:132783172:G:A p.(Ser1213Leu) NC_000002.12:132783172:G:A p.(Ser1213Leu) NC_000002.12:132783172:G:A Identity +NM_001136045.1:c.118T>G NP_001129517.1:p.Cys40Gly NC_000017.11:28716930:A:C ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found ERR:AlignmentMapper(tx_ac=NM_001136045.1, alt_ac=NM_001136045.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001136045.1, alt_ac=NM_001136045.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found +NM_001291088.2:c.6879A>T NP_001278017.1:p.Glu2293Asp NC_000019.10:37886791:T:A p.(Glu2293Asp) NC_000019.10:37886791:T:A p.(Glu2293Asp) NC_000019.10:37886791:T:A Identity +NM_001190467.2:c.1181C>A NP_001177396.1:p.Pro394His NC_000019.10:7872062:G:T p.(Pro394His) NC_000019.10:7872062:G:T p.(Pro394His) NC_000019.10:7872062:G:T Identity +NM_004428.3:c.137A>G NP_004419.2:p.Tyr46Cys NC_000001.11:155131382:A:G p.(Tyr46Cys) NC_000001.11:155131382:A:G p.(Tyr46Cys) NC_000001.11:155131382:A:G Identity +NM_153689.6:c.5G>T NP_710156.3:p.Trp2Leu NC_000002.12:199911442:G:T p.(Trp2Leu) NC_000002.12:199911442:G:T p.(Trp2Leu) NC_000002.12:199911442:G:T Identity +NM_001252335.2:c.3593C>G NP_001239264.1:p.Thr1198Ser NC_000015.10:57545683:C:G p.(Thr1198Ser) NC_000015.10:57545683:C:G p.(Thr1198Ser) NC_000015.10:57545683:C:G Identity +NM_001126060.2:c.149T>G NP_001119532.2:p.Met50Arg NC_000001.11:162365497:T:G p.(Met50Arg) NC_000001.11:162365497:T:G p.(Met50Arg) NC_000001.11:162365497:T:G Identity +NM_032423.3:c.1576T>A NP_115799.2:p.Cys526Ser NC_000019.10:52416427:T:A p.(Cys526Ser) NC_000019.10:52416427:T:A p.(Cys526Ser) NC_000019.10:52416427:T:A Identity +NM_001168357.2:c.686G>A NP_001161829.1:p.Cys229Tyr NC_000006.12:46710635:C:T p.(Cys229Tyr) NC_000006.12:46710635:C:T p.(Cys229Tyr) NC_000006.12:46710635:C:T Identity +NM_001010870.3:c.5296A>C NP_001010870.1:p.Ser1766Arg NC_000006.12:46693423:A:C p.(Ser1766Arg) NC_000006.12:46693423:A:C p.(Ser1766Arg) NC_000006.12:46693423:A:C Identity +NM_001306129.2:c.6371G>A NP_001293058.2:p.Gly2124Asp NC_000002.12:215372251:C:T p.(Gly2124Asp) NC_000002.12:215372251:C:T p.(Gly2124Asp) NC_000002.12:215372251:C:T Identity +NM_001165412.2:c.40A>T NP_001158884.1:p.Met14Leu NC_000004.12:102529835:A:T p.(Met14Leu) NC_000004.12:102529835:A:T p.(Met14Leu) NC_000004.12:102529835:A:T Identity +NM_001347886.2:c.5012C>T NP_001334815.1:p.Thr1671Ile NC_000016.10:21034020:G:A p.(Thr1671Ile) NC_000016.10:21034020:G:A p.(Thr1671Ile) NC_000016.10:21034020:G:A Identity +NM_001388022.1:c.3906C>G NP_001374951.1:p.Asp1302Glu NC_000011.10:8618962:G:C p.(Asp1302Glu) NC_000011.10:8618962:G:C p.(Asp1302Glu) NC_000011.10:8618962:G:C Identity +NM_001353345.2:c.4363C>T NP_001340274.1:p.Arg1455Cys NC_000012.12:121822941:C:T p.(Arg1455Cys) NC_000012.12:121822941:C:T p.(Arg1455Cys) NC_000012.12:121822941:C:T Identity +NM_001320898.2:c.1292C>G NP_001307827.1:p.Ala431Gly NC_000010.11:73819533:G:C p.(Ala431Gly) NC_000010.11:73819533:G:C p.(Ala431Gly) NC_000010.11:73819533:G:C Identity +NM_001261392.2:c.1339G>A NP_001248321.1:p.Val447Ile NC_000002.12:10600857:C:T p.(Val447Ile) NC_000002.12:10600857:C:T p.(Val447Ile) NC_000002.12:10600857:C:T Identity +NM_001190228.2:c.466G>C NP_001177157.1:p.Val156Leu NC_000009.12:137229080:G:C p.(Val156Leu) NC_000009.12:137229080:G:C p.(Val156Leu) NC_000009.12:137229080:G:C Identity +NM_001284306.2:c.320G>A NP_001271235.1:p.Arg107Gln NC_000015.10:42448372:C:T p.(Arg107Gln) NC_000015.10:42448372:C:T p.(Arg107Gln) NC_000015.10:42448372:C:T Identity +NM_001307986.2:c.961G>T NP_001294915.1:p.Val321Leu NC_000018.10:46680319:C:A p.(Val321Leu) NC_000018.10:46680319:C:A p.(Val321Leu) NC_000018.10:46680319:C:A Identity +NM_001351226.2:c.235C>T NP_001338155.1:p.Arg79Trp NC_000012.12:130456618:G:A p.(Arg79Trp) NC_000012.12:130456618:G:A p.(Arg79Trp) NC_000012.12:130456618:G:A Identity +NM_001297696.2:c.362A>T NP_001284625.1:p.Glu121Val NC_000005.10:69313985:T:A p.(Glu121Val) NC_000005.10:69313985:T:A p.(Glu121Val) NC_000005.10:69313985:T:A Identity +NM_001024858.4:c.422G>A NP_001020029.1:p.Gly141Asp NC_000014.9:64803658:C:T p.(Gly141Asp) NC_000014.9:64803658:C:T p.(Gly141Asp) NC_000014.9:64803658:C:T Identity +NM_001040616.3:c.271C>T NP_001035706.2:p.Leu91Phe NC_000015.10:100580571:G:A p.(Leu91Phe) NC_000015.10:100580571:G:A p.(Leu91Phe) NC_000015.10:100580571:G:A Identity +NM_001197294.2:c.1441G>A NP_001184223.1:p.Asp481Asn NC_000005.10:147400702:C:T p.(Asp481Asn) NC_000005.10:147400702:C:T p.(Asp481Asn) NC_000005.10:147400702:C:T Identity +NM_001122772.3:c.634T>C NP_001116244.1:p.Trp212Arg NC_000012.12:57737612:A:G p.(Trp212Arg) NC_000012.12:57737612:A:G p.(Trp212Arg) NC_000012.12:57737612:A:G Identity +NM_001114103.1:c.98A>C NP_001107575.1:p.Asp33Ala NC_000001.11:1090402:T:G ERR:Data provider error: ValueError: Transcript NM_001114103.1 not found ERR:Data provider error: ValueError: Transcript NM_001114103.1 not found ERR:AlignmentMapper(tx_ac=NM_001114103.1, alt_ac=NM_001114103.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001114103.1, alt_ac=NM_001114103.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001114103.1 not found +NM_001242875.3:c.2591C>G NP_001229804.1:p.Ala864Gly NC_000018.10:36174555:C:G p.(Ala864Gly) NC_000018.10:36174555:C:G p.(Ala864Gly) NC_000018.10:36174555:C:G Identity +NM_002479.6:c.22C>G NP_002470.2:p.Pro8Ala NC_000001.11:203085939:G:C p.(Pro8Ala) NC_000001.11:203085939:G:C p.(Pro8Ala) NC_000001.11:203085939:G:C Identity +NM_013240.6:c.77C>T NP_037372.4:p.Ala26Val NC_000021.9:28885268:G:A p.(Ala26Val) NC_000021.9:28885268:G:A p.(Ala26Val) NC_000021.9:28885268:G:A Identity +NM_001330609.2:c.2582T>G NP_001317538.1:p.Leu861Arg NC_000008.11:125038887:A:C p.(Leu861Arg) NC_000008.11:125038887:A:C p.(Leu861Arg) NC_000008.11:125038887:A:C Identity +NM_000129.4:c.1213G>A NP_000120.2:p.Asp405Asn NC_000006.12:6197225:C:T p.(Asp405Asn) NC_000006.12:6197225:C:T p.(Asp405Asn) NC_000006.12:6197225:C:T Identity +NM_001164443.1:c.4547A>T NP_001157915.1:p.Asp1516Val NC_000005.10:75104840:T:A p.(Asp1516Val) NC_000005.10:75104840:T:A p.(Asp1516Val) NC_000005.10:75104840:T:A Identity +NM_001199746.2:c.143C>A NP_001186675.1:p.Ala48Glu NC_000002.12:176130508:C:A p.(Ala48Glu) NC_000002.12:176130508:C:A p.(Ala48Glu) NC_000002.12:176130508:C:A Identity +NM_020759.3:c.2410G>A NP_065810.2:p.Glu804Lys NC_000015.10:42682447:G:A p.(Glu804Lys) NC_000015.10:42682447:G:A p.(Glu804Lys) NC_000015.10:42682447:G:A Identity +NM_004799.4:c.2719A>T NP_004790.2:p.Ile907Phe NC_000001.11:52274556:A:T p.(Ile907Phe) NC_000001.11:52274556:A:T p.(Ile907Phe) NC_000001.11:52274556:A:T Identity +NM_001376129.1:c.713T>C NP_001363058.1:p.Val238Ala NC_000002.12:74491508:T:C p.(Val238Ala) NC_000002.12:74491508:T:C p.(Val238Ala) NC_000002.12:74491508:T:C Identity +NM_194449.4:c.1288G>A NP_919431.2:p.Val430Ile NC_000018.10:62716970:G:A p.(Val430Ile) NC_000018.10:62716970:G:A p.(Val430Ile) NC_000018.10:62716970:G:A Identity +NM_001114132.2:c.6889A>C NP_001107604.1:p.Ile2297Leu NC_000002.12:203193848:A:C p.(Ile2297Leu) NC_000002.12:203193848:A:C p.(Ile2297Leu) NC_000002.12:203193848:A:C Identity +NM_001301849.2:c.1868G>A NP_001288778.1:p.Ser623Asn NC_000022.11:40409487:G:A p.(Ser623Asn) NC_000022.11:40409487:G:A p.(Ser623Asn) NC_000022.11:40409487:G:A Identity +NM_001293274.2:c.466G>A NP_001280203.1:p.Val156Ile NC_000001.11:64647997:G:A p.(Val156Ile) NC_000001.11:64647997:G:A p.(Val156Ile) NC_000001.11:64647997:G:A Identity +NM_001160706.2:c.123G>C NP_001154178.1:p.Gln41His NC_000013.11:77556674:G:C p.(Gln41His) NC_000013.11:77556674:G:C p.(Gln41His) NC_000013.11:77556674:G:C Identity +NM_001316943.2:c.143C>T NP_001303872.1:p.Ala48Val NC_000015.10:65286283:G:A p.(Ala48Val) NC_000015.10:65286283:G:A p.(Ala48Val) NC_000015.10:65286283:G:A Identity +NM_032152.5:c.965C>T NP_115528.4:p.Pro322Leu NC_000019.10:8498842:G:A p.(Pro322Leu) NC_000019.10:8498842:G:A p.(Pro322Leu) NC_000019.10:8498842:G:A Identity +NM_001078645.3:c.255G>T NP_001072113.1:p.Glu85Asp NC_000013.11:114239363:G:T p.(Glu85Asp) NC_000013.11:114239363:G:T p.(Glu85Asp) NC_000013.11:114239363:G:T Identity +NM_001304548.2:c.9074T>G NP_001291477.1:p.Phe3025Cys NC_000023.11:36367015:T:G p.(Phe3025Cys) NC_000023.11:36367015:T:G p.(Phe3025Cys) NC_000023.11:36367015:T:G Identity +NM_001031850.4:c.263T>C NP_001027020.1:p.Ile88Thr NC_000019.10:42916288:A:G p.(Ile88Thr) NC_000019.10:42916288:A:G p.(Ile88Thr) NC_000019.10:42916288:A:G Identity +NM_001306089.2:c.5402G>A NP_001293018.1:p.Arg1801Gln NC_000018.10:76960837:G:A p.(Arg1801Gln) NC_000018.10:76960837:G:A p.(Arg1801Gln) NC_000018.10:76960837:G:A Identity +NM_014675.5:c.4144G>T NP_055490.4:p.Asp1382Tyr NC_000001.11:16960868:G:T p.(Asp1382Tyr) NC_000001.11:16960868:G:T p.(Asp1382Tyr) NC_000001.11:16960868:G:T Identity +NM_201286.4:c.122C>A NP_958443.1:p.Ala41Glu NC_000023.11:55488817:G:T p.(Ala41Glu) NC_000023.11:55488817:G:T p.(Ala41Glu) NC_000023.11:55488817:G:T Identity +NM_000234.3:c.2651C>T NP_000225.1:p.Pro884Leu NC_000019.10:48115897:G:A p.(Pro884Leu) NC_000019.10:48115897:G:A p.(Pro884Leu) NC_000019.10:48115897:G:A Identity +NM_001040160.3:c.274G>C NP_001035250.1:p.Glu92Gln NC_000016.10:635697:C:G p.(Glu92Gln) NC_000016.10:635697:C:G p.(Glu92Gln) NC_000016.10:635697:C:G Identity +NM_198582.4:c.367G>A NP_940984.3:p.Gly123Ser NC_000002.12:238141120:G:A p.(Gly123Ser) NC_000002.12:238141120:G:A p.(Gly123Ser) NC_000002.12:238141120:G:A Identity +NM_022477.4:c.97A>G NP_071922.2:p.Thr33Ala NC_000020.11:36688744:T:C p.(Thr33Ala) NC_000020.11:36688744:T:C p.(Thr33Ala) NC_000020.11:36688744:T:C Identity +NM_001324512.2:c.4154A>C NP_001311441.1:p.His1385Pro NC_000005.10:33546095:T:G p.(His1385Pro) NC_000005.10:33546095:T:G p.(His1385Pro) NC_000005.10:33546095:T:G Identity +NM_001433.5:c.1583C>T NP_001424.3:p.Thr528Met NC_000017.11:64055763:G:A p.(Thr528Met) NC_000017.11:64055763:G:A p.(Thr528Met) NC_000017.11:64055763:G:A Identity +NM_001320767.2:c.818A>G NP_001307696.1:p.Lys273Arg NC_000019.10:58261423:A:G p.(Lys273Arg) NC_000019.10:58261423:A:G p.(Lys273Arg) NC_000019.10:58261423:A:G Identity +NM_001130923.3:c.508T>C NP_001124395.1:p.Trp170Arg NC_000022.11:50769450:A:G p.(Trp170Arg) NC_000022.11:50769450:A:G p.(Trp170Arg) NC_000022.11:50769450:A:G Identity +NM_001145520.1:c.1702G>C NP_001138992.1:p.Val568Leu NC_000005.10:34823543:G:C p.(Val568Leu) NC_000005.10:34823543:G:C p.(Val568Leu) NC_000005.10:34823543:G:C Identity +NM_001377344.1:c.101C>T NP_001364273.1:p.Ala34Val NC_000003.12:66500306:G:A p.(Ala34Val) NC_000003.12:66500306:G:A p.(Ala34Val) NC_000003.12:66500306:G:A Identity +NM_003126.4:c.1364A>G NP_003117.2:p.Asp455Gly NC_000001.11:158672182:T:C p.(Asp455Gly) NC_000001.11:158672182:T:C p.(Asp455Gly) NC_000001.11:158672182:T:C Identity +NM_001130674.3:c.492C>G NP_001124146.1:p.Asp164Glu NC_000007.14:128758946:C:G p.(Asp164Glu) NC_000007.14:128758946:C:G p.(Asp164Glu) NC_000007.14:128758946:C:G Identity +NM_003620.4:c.160T>G NP_003611.1:p.Ser54Ala NC_000017.11:60600573:T:G p.(Ser54Ala) NC_000017.11:60600573:T:G p.(Ser54Ala) NC_000017.11:60600573:T:G Identity +NM_001282495.1:c.1672T>G NP_001269424.1:p.Phe558Val NC_000020.11:2483288:A:C p.(Phe558Val) NC_000020.11:2483288:A:C p.(Phe558Val) NC_000020.11:2483288:A:C Identity +NM_001193478.2:c.356G>A NP_001180407.1:p.Gly119Glu NC_000013.11:49259448:G:A p.(Gly119Glu) NC_000013.11:49259448:G:A p.(Gly119Glu) NC_000013.11:49259448:G:A Identity +NM_001130455.2:c.2449T>C NP_001123927.1:p.Phe817Leu NC_000002.12:71564147:T:C p.(Phe817Leu) NC_000002.12:71564147:T:C p.(Phe817Leu) NC_000002.12:71564147:T:C Identity +NM_001304438.2:c.1823G>A NP_001291367.1:p.Gly608Asp NC_000017.11:34634932:G:A p.(Gly608Asp) NC_000017.11:34634932:G:A p.(Gly608Asp) NC_000017.11:34634932:G:A Identity +NM_001356505.2:c.1838G>C NP_001343434.1:p.Cys613Ser NC_000001.11:177944603:C:G p.(Cys613Ser) NC_000001.11:177944603:C:G p.(Cys613Ser) NC_000001.11:177944603:C:G Identity +NM_016216.4:c.553A>T NP_057300.2:p.Asn185Tyr NC_000003.12:138167241:T:A p.(Asn185Tyr) NC_000003.12:138167241:T:A p.(Asn185Tyr) NC_000003.12:138167241:T:A Identity +NM_032806.6:c.318C>G NP_116195.2:p.Asn106Lys NC_000003.12:43081113:G:C p.(Asn106Lys) NC_000003.12:43081113:G:C p.(Asn106Lys) NC_000003.12:43081113:G:C Identity +NM_001308350.2:c.1962G>C NP_001295279.1:p.Lys654Asn NC_000003.12:113612189:G:C p.(Lys654Asn) NC_000003.12:113612189:G:C p.(Lys654Asn) NC_000003.12:113612189:G:C Identity +NM_001134830.2:c.3034C>A NP_001128302.1:p.Gln1012Lys NC_000006.12:135394850:G:T p.(Gln1012Lys) NC_000006.12:135394850:G:T p.(Gln1012Lys) NC_000006.12:135394850:G:T Identity +NM_001098635.2:c.158G>A NP_001092105.1:p.Arg53Gln NC_000017.11:28981936:C:T p.(Arg53Gln) NC_000017.11:28981936:C:T p.(Arg53Gln) NC_000017.11:28981936:C:T Identity +NM_001004692.2:c.38T>C NP_001004692.1:p.Leu13Pro NC_000001.11:248295540:A:G p.(Leu13Pro) NC_000001.11:248295540:A:G p.(Leu13Pro) NC_000001.11:248295540:A:G Identity +NM_024312.5:c.2761A>C NP_077288.2:p.Lys921Gln NC_000012.12:101761717:T:G p.(Lys921Gln) NC_000012.12:101761717:T:G p.(Lys921Gln) NC_000012.12:101761717:T:G Identity +NM_001199377.2:c.1886T>C NP_001186306.1:p.Met629Thr NC_000015.10:78173783:A:G p.(Met629Thr) NC_000015.10:78173783:A:G p.(Met629Thr) NC_000015.10:78173783:A:G Identity +NM_001385648.2:c.1043C>T NP_001372577.1:p.Pro348Leu NC_000019.10:41425735:G:A p.(Pro348Leu) NC_000019.10:41425735:G:A p.(Pro348Leu) NC_000019.10:41425735:G:A Identity +NM_001162914.1:c.724C>T NP_001156386.1:p.His242Tyr NC_000008.11:143707289:G:A p.(His242Tyr) NC_000008.11:143707289:G:A p.(His242Tyr) NC_000008.11:143707289:G:A Identity +NM_001135729.2:c.1124C>T NP_001129201.1:p.Ala375Val NC_000022.11:35338786:C:T p.(Ala375Val) NC_000022.11:35338786:C:T p.(Ala375Val) NC_000022.11:35338786:C:T Identity +NM_004370.6:c.8330G>A NP_004361.3:p.Gly2777Asp NC_000006.12:75102681:C:T p.(Gly2777Asp) NC_000006.12:75102681:C:T p.(Gly2777Asp) NC_000006.12:75102681:C:T Identity +NM_001134473.3:c.1936G>T NP_001127945.1:p.Ala646Ser NC_000016.10:85661752:G:T p.(Ala646Ser) NC_000016.10:85661752:G:T p.(Ala646Ser) NC_000016.10:85661752:G:T Identity +NM_001037132.4:c.1453A>G NP_001032209.1:p.Thr485Ala NC_000007.14:108195770:T:C p.(Thr485Ala) NC_000007.14:108195770:T:C p.(Thr485Ala) NC_000007.14:108195770:T:C Identity +NM_000173.7:c.410G>A NP_000164.5:p.Arg137His NC_000017.11:4933013:G:A p.(Arg137His) NC_000017.11:4933013:G:A p.(Arg137His) NC_000017.11:4933013:G:A Identity +NM_001301012.2:c.40A>G NP_001287941.1:p.Lys14Glu NC_000006.12:133382397:A:G p.(Lys14Glu) NC_000006.12:133382397:A:G p.(Lys14Glu) NC_000006.12:133382397:A:G Identity +NM_170606.3:c.554A>G NP_733751.2:p.Gln185Arg NC_000007.14:152315173:T:C p.(Gln185Arg) NC_000007.14:152315173:T:C p.(Gln185Arg) NC_000007.14:152315173:T:C Identity +NM_000913.6:c.578T>G NP_000904.1:p.Val193Gly NC_000020.11:64098145:T:G p.(Val193Gly) NC_000020.11:64098145:T:G p.(Val193Gly) NC_000020.11:64098145:T:G Identity +NM_001321291.2:c.2548A>C NP_001308220.1:p.Lys850Gln NC_000017.11:78803646:T:G p.(Lys850Gln) NC_000017.11:78803646:T:G p.(Lys850Gln) NC_000017.11:78803646:T:G Identity +NM_002458.3:c.9948C>A NP_002449.2:p.Phe3316Leu NC_000011.10:1246827:C:A p.(Phe3316Leu) NC_000011.10:1246827:C:A p.(Phe3316Leu) NC_000011.10:1246827:C:A Identity +NM_007337.4:c.5145G>C NP_031363.2:p.Glu1715Asp NC_000003.12:38122412:G:C p.(Glu1715Asp) NC_000003.12:38122412:G:C p.(Glu1715Asp) NC_000003.12:38122412:G:C Identity +NM_213598.4:c.1558G>A NP_998763.2:p.Ala520Thr NC_000019.10:57329019:G:A p.(Ala520Thr) NC_000019.10:57329019:G:A p.(Ala520Thr) NC_000019.10:57329019:G:A Identity +NM_001161498.2:c.725C>T NP_001154970.1:p.Ser242Phe NC_000014.9:69524302:C:T p.(Ser242Phe) NC_000014.9:69524302:C:T p.(Ser242Phe) NC_000014.9:69524302:C:T Identity +NM_001168374.2:c.2545C>T NP_001161846.1:p.Arg849Trp NC_000006.12:24563377:G:A p.(Arg849Trp) NC_000006.12:24563377:G:A p.(Arg849Trp) NC_000006.12:24563377:G:A Identity +NM_207361.6:c.7072G>C NP_997244.4:p.Val2358Leu NC_000013.11:38857889:G:C p.(Val2358Leu) NC_000013.11:38857889:G:C p.(Val2358Leu) NC_000013.11:38857889:G:C Identity +NM_020121.4:c.3214A>G NP_064506.3:p.Ile1072Val NC_000013.11:95884504:T:C p.(Ile1072Val) NC_000013.11:95884504:T:C p.(Ile1072Val) NC_000013.11:95884504:T:C Identity +NM_001206528.3:c.322C>T NP_001193457.1:p.Arg108Trp NC_000010.11:97936268:G:A p.(Arg108Trp) NC_000010.11:97936268:G:A p.(Arg108Trp) NC_000010.11:97936268:G:A Identity +NM_001017924.5:c.447C>A NP_001017924.1:p.Phe149Leu NC_000010.11:84224777:G:T p.(Phe149Leu) NC_000010.11:84224777:G:T p.(Phe149Leu) NC_000010.11:84224777:G:T Identity +NM_001307930.2:c.244G>T NP_001294859.1:p.Asp82Tyr NC_000015.10:65058550:C:A p.(Asp82Tyr) NC_000015.10:65058550:C:A p.(Asp82Tyr) NC_000015.10:65058550:C:A Identity +NM_019601.4:c.1847C>A NP_062547.1:p.Pro616His NC_000022.11:24187405:C:A p.(Pro616His) NC_000022.11:24187405:C:A p.(Pro616His) NC_000022.11:24187405:C:A Identity +NM_052909.5:c.3928G>A NP_443141.4:p.Ala1310Thr NC_000005.10:171321:G:A p.(Ala1310Thr) NC_000005.10:171321:G:A p.(Ala1310Thr) NC_000005.10:171321:G:A Identity +NM_001080491.5:c.1235C>G NP_001073960.1:p.Pro412Arg NC_000010.11:11463743:G:C p.(Pro412Arg) NC_000010.11:11463743:G:C p.(Pro412Arg) NC_000010.11:11463743:G:C Identity +NM_001319245.2:c.350G>T NP_001306174.1:p.Ser117Ile NC_000001.11:45829462:G:T p.(Ser117Ile) NC_000001.11:45829462:G:T p.(Ser117Ile) NC_000001.11:45829462:G:T Identity +NM_006461.4:c.1198A>G NP_006452.3:p.Thr400Ala NC_000017.11:28592045:T:C p.(Thr400Ala) NC_000017.11:28592045:T:C p.(Thr400Ala) NC_000017.11:28592045:T:C Identity +NM_001242800.2:c.720T>A NP_001229729.1:p.Ser240Arg NC_000019.10:36819623:A:T p.(Ser240Arg) NC_000019.10:36819623:A:T p.(Ser240Arg) NC_000019.10:36819623:A:T Identity +NM_000601.6:c.1677G>C NP_000592.3:p.Glu559Asp NC_000007.14:81706366:C:G p.(Glu559Asp) NC_000007.14:81706366:C:G p.(Glu559Asp) NC_000007.14:81706366:C:G Identity +NM_001098537.3:c.2675A>G NP_001092007.2:p.Glu892Gly NC_000009.12:137479143:T:C p.(Glu892Gly) NC_000009.12:137479143:T:C p.(Glu892Gly) NC_000009.12:137479143:T:C Identity +NM_001302082.2:c.1A>G NP_001289011.1:p.Met1Val NC_000001.11:48759136:T:C p.(Met1Val) NC_000001.11:48759136:T:C p.Met1? NC_000001.11:48759136:T:C Identity +NM_001278524.2:c.3301G>T NP_001265453.1:p.Gly1101Cys NC_000010.11:96159622:G:T p.(Gly1101Cys) NC_000010.11:96159622:G:T p.(Gly1101Cys) NC_000010.11:96159622:G:T Identity +NM_001039372.4:c.500C>T NP_001034461.1:p.Thr167Ile NC_000007.14:93215615:G:A p.(Thr167Ile) NC_000007.14:93215615:G:A p.(Thr167Ile) NC_000007.14:93215615:G:A Identity +NM_006828.4:c.6535G>A NP_006819.2:p.Val2179Ile NC_000006.12:100509459:C:T p.(Val2179Ile) NC_000006.12:100509459:C:T p.(Val2179Ile) NC_000006.12:100509459:C:T Identity +NM_016538.3:c.1115G>A NP_057622.1:p.Arg372Gln NC_000017.11:81912503:C:T p.(Arg372Gln) NC_000017.11:81912503:C:T p.(Arg372Gln) NC_000017.11:81912503:C:T Identity +NM_001410864.1:c.2204A>C NP_001397793.1:p.Lys735Thr NC_000004.12:183265947:A:C p.(Lys735Thr) NC_000004.12:183265947:A:C p.(Lys735Thr) NC_000004.12:183265947:A:C Identity +NM_194291.3:c.334G>C NP_919267.2:p.Gly112Arg NC_000008.11:124330762:C:G p.(Gly112Arg) NC_000008.11:124330762:C:G p.(Gly112Arg) NC_000008.11:124330762:C:G Identity +NM_001130003.2:c.392A>C NP_001123475.1:p.Asn131Thr NC_000003.12:63556724:A:C p.(Asn131Thr) NC_000003.12:63556724:A:C p.(Asn131Thr) NC_000003.12:63556724:A:C Identity +NM_000627.4:c.2143G>A NP_000618.4:p.Glu715Lys NC_000002.12:33293167:G:A p.(Glu715Lys) NC_000002.12:33293167:G:A p.(Glu715Lys) NC_000002.12:33293167:G:A Identity +NM_032859.3:c.349A>G NP_116248.2:p.Ile117Val NC_000013.11:108229566:A:G p.(Ile117Val) NC_000013.11:108229566:A:G p.(Ile117Val) NC_000013.11:108229566:A:G Identity +NM_017857.4:c.1015G>A NP_060327.3:p.Gly339Ser NC_000011.10:67308411:G:A p.(Gly339Ser) NC_000011.10:67308411:G:A p.(Gly339Ser) NC_000011.10:67308411:G:A Identity +NM_001413184.1:c.4744G>A NP_001400113.1:p.Asp1582Asn NC_000008.11:67211557:C:T p.(Asp1582Asn) NC_000008.11:67211557:C:T p.(Asp1582Asn) NC_000008.11:67211557:C:T Identity +NM_001085354.3:c.2298G>T NP_001078823.1:p.Gln766His NC_000023.11:106942592:C:A p.(Gln766His) NC_000023.11:106942592:C:A p.(Gln766His) NC_000023.11:106942592:C:A Identity +NM_001253.4:c.605G>A NP_001244.1:p.Arg202Lys NC_000006.12:44403873:G:A p.(Arg202Lys) NC_000006.12:44403873:G:A p.(Arg202Lys) NC_000006.12:44403873:G:A Identity +NM_001101800.3:c.1183G>A NP_001095270.1:p.Val395Ile NC_000005.10:137962465:C:T p.(Val395Ile) NC_000005.10:137962465:C:T p.(Val395Ile) NC_000005.10:137962465:C:T Identity +NM_001040113.2:c.4493C>T NP_001035202.1:p.Ala1498Val NC_000016.10:15721527:G:A p.(Ala1498Val) NC_000016.10:15721527:G:A p.(Ala1498Val) NC_000016.10:15721527:G:A Identity +NM_001289003.1:c.2443C>G NP_001275932.1:p.Pro815Ala NC_000016.10:71652962:G:C p.(Pro815Ala) NC_000016.10:71652962:G:C p.(Pro815Ala) NC_000016.10:71652962:G:C Identity +NM_001080495.3:c.4310T>C NP_001073964.2:p.Val1437Ala NC_000007.14:5362734:A:G p.(Val1437Ala) NC_000007.14:5362734:A:G p.(Val1437Ala) NC_000007.14:5362734:A:G Identity +NM_001260502.2:c.784G>C NP_001247431.1:p.Gly262Arg NC_000017.11:76057482:C:G p.(Gly262Arg) NC_000017.11:76057482:C:G p.(Gly262Arg) NC_000017.11:76057482:C:G Identity +NM_001244883.2:c.425C>T NP_001231812.1:p.Thr142Ile NC_000014.9:74891149:C:T p.(Thr142Ile) NC_000014.9:74891149:C:T p.(Thr142Ile) NC_000014.9:74891149:C:T Identity +NM_001039508.2:c.161C>T NP_001034597.1:p.Thr54Ile NC_000020.11:1649320:G:A p.(Thr54Ile) NC_000020.11:1649320:G:A p.(Thr54Ile) NC_000020.11:1649320:G:A Identity +NM_001270974.2:c.7123C>T NP_001257903.1:p.Pro2375Ser NC_000016.10:70935986:G:A p.(Pro2375Ser) NC_000016.10:70935986:G:A p.(Pro2375Ser) NC_000016.10:70935986:G:A Identity +NM_001104.4:c.2400G>C NP_001095.2:p.Glu800Asp NC_000011.10:66562806:G:C p.(Glu800Asp) NC_000011.10:66562806:G:C p.(Glu800Asp) NC_000011.10:66562806:G:C Identity +NM_001282470.3:c.38C>T NP_001269399.1:p.Ala13Val NC_000011.10:120660355:C:T p.(Ala13Val) NC_000011.10:120660355:C:T p.(Ala13Val) NC_000011.10:120660355:C:T Identity +NM_001198950.3:c.2552A>G NP_001185879.1:p.Tyr851Cys NC_000013.11:109009005:A:G p.(Tyr851Cys) NC_000013.11:109009005:A:G p.(Tyr851Cys) NC_000013.11:109009005:A:G Identity +NM_052897.4:c.2063C>G NP_443129.3:p.Pro688Arg NC_000012.12:57527207:C:G p.(Pro688Arg) NC_000012.12:57527207:C:G p.(Pro688Arg) NC_000012.12:57527207:C:G Identity +NM_001324512.2:c.2108C>T NP_001311441.1:p.Pro703Leu NC_000005.10:33615852:G:A p.(Pro703Leu) NC_000005.10:33615852:G:A p.(Pro703Leu) NC_000005.10:33615852:G:A Identity +NM_001127441.2:c.959T>C NP_001120913.1:p.Ile320Thr NC_000007.14:130367491:T:C p.(Ile320Thr) NC_000007.14:130367491:T:C p.(Ile320Thr) NC_000007.14:130367491:T:C Identity +NM_001080479.3:c.5005G>A NP_001073948.2:p.Gly1669Arg NC_000005.10:73923142:G:A p.(Gly1669Arg) NC_000005.10:73923142:G:A p.(Gly1669Arg) NC_000005.10:73923142:G:A Identity +NM_152448.3:c.275G>T NP_689661.1:p.Cys92Phe NC_000015.10:44958500:G:T p.(Cys92Phe) NC_000015.10:44958500:G:T p.(Cys92Phe) NC_000015.10:44958500:G:T Identity +NM_012327.6:c.1421G>A NP_036459.1:p.Ser474Asn NC_000018.10:62113146:C:T p.(Ser474Asn) NC_000018.10:62113146:C:T p.(Ser474Asn) NC_000018.10:62113146:C:T Identity +NM_052898.2:c.1522A>G NP_443130.1:p.Met508Val NC_000008.11:55523795:A:G p.(Met508Val) NC_000008.11:55523795:A:G p.(Met508Val) NC_000008.11:55523795:A:G Identity +NM_001145211.3:c.374C>A NP_001138683.1:p.Thr125Asn NC_000011.10:75165940:C:A p.(Thr125Asn) NC_000011.10:75165940:C:A p.(Thr125Asn) NC_000011.10:75165940:C:A Identity +NM_033550.4:c.583G>A NP_291028.3:p.Asp195Asn NC_000020.11:46686931:C:T p.(Asp195Asn) NC_000020.11:46686931:C:T p.(Asp195Asn) NC_000020.11:46686931:C:T Identity +NM_000271.5:c.2133A>C NP_000262.2:p.Arg711Ser NC_000018.10:23543566:T:G p.(Arg711Ser) NC_000018.10:23543566:T:G p.(Arg711Ser) NC_000018.10:23543566:T:G Identity +NM_001347.4:c.265T>C NP_001338.2:p.Cys89Arg NC_000004.12:973217:A:G p.(Cys89Arg) NC_000004.12:973217:A:G p.(Cys89Arg) NC_000004.12:973217:A:G Identity +NM_178170.3:c.59T>C NP_835464.1:p.Leu20Pro NC_000017.11:28733993:T:C p.(Leu20Pro) NC_000017.11:28733993:T:C p.(Leu20Pro) NC_000017.11:28733993:T:C Identity +NM_001134659.1:c.215C>T NP_001128131.1:p.Pro72Leu NC_000003.12:139006053:G:A p.(Pro72Leu) NC_000003.12:139006053:G:A p.(Pro72Leu) NC_000003.12:139006053:G:A Identity +NM_004326.4:c.451C>A NP_004317.2:p.Pro151Thr NC_000001.11:147614506:C:A p.(Pro151Thr) NC_000001.11:147614506:C:A p.(Pro151Thr) NC_000001.11:147614506:C:A Identity +NM_017729.4:c.875A>C NP_060199.3:p.Glu292Ala NC_000019.10:55083418:A:C p.(Glu292Ala) NC_000019.10:55083418:A:C p.(Glu292Ala) NC_000019.10:55083418:A:C Identity +NM_001409.4:c.1012A>C NP_001400.3:p.Asn338His NC_000001.11:3511651:T:G p.(Asn338His) NC_000001.11:3511651:T:G p.(Asn338His) NC_000001.11:3511651:T:G Identity +NM_001261419.2:c.779T>G NP_001248348.1:p.Val260Gly NC_000002.12:102024559:T:G p.(Val260Gly) NC_000002.12:102024559:T:G p.(Val260Gly) NC_000002.12:102024559:T:G Identity +NM_001146344.3:c.399C>A NP_001139816.2:p.Asn133Lys NC_000001.11:12827724:G:T p.(Asn133Lys) NC_000001.11:12827724:G:T p.(Asn133Lys) NC_000001.11:12827724:G:T Identity +NM_152631.3:c.1733A>T NP_689844.2:p.Asp578Val NC_000023.11:34944563:A:T p.(Asp578Val) NC_000023.11:34944563:A:T p.(Asp578Val) NC_000023.11:34944563:A:T Identity +NM_004864.4:c.332C>T NP_004855.2:p.Pro111Leu NC_000019.10:18388339:C:T p.(Pro111Leu) NC_000019.10:18388339:C:T p.(Pro111Leu) NC_000019.10:18388339:C:T Identity +NM_006187.4:c.2440C>T NP_006178.2:p.Arg814Cys NC_000012.12:112965779:C:T p.(Arg814Cys) NC_000012.12:112965779:C:T p.(Arg814Cys) NC_000012.12:112965779:C:T Identity +NM_001305105.2:c.38C>A NP_001292034.1:p.Ala13Asp NC_000019.10:49851365:C:A p.(Ala13Asp) NC_000019.10:49851365:C:A p.(Ala13Asp) NC_000019.10:49851365:C:A Identity +NM_133448.3:c.1504G>A NP_597705.2:p.Val502Met NC_000012.12:129084641:C:T p.(Val502Met) NC_000012.12:129084641:C:T p.(Val502Met) NC_000012.12:129084641:C:T Identity +NM_001130420.3:c.985C>T NP_001123892.1:p.Arg329Cys NC_000012.12:56181072:G:A p.(Arg329Cys) NC_000012.12:56181072:G:A p.(Arg329Cys) NC_000012.12:56181072:G:A Identity +NM_001009811.4:c.316C>A NP_001009811.2:p.Pro106Thr NC_000017.11:81207195:G:T p.(Pro106Thr) NC_000017.11:81207195:G:T p.(Pro106Thr) NC_000017.11:81207195:G:T Identity +NM_080283.4:c.3847A>G NP_525022.2:p.Ile1283Val NC_000017.11:68989920:T:C p.(Ile1283Val) NC_000017.11:68989920:T:C p.(Ile1283Val) NC_000017.11:68989920:T:C Identity +NM_002016.2:c.3819C>G NP_002007.1:p.Asp1273Glu NC_000001.11:152311066:G:C p.(Asp1273Glu) NC_000001.11:152311066:G:C p.(Asp1273Glu) NC_000001.11:152311066:G:C Identity +NM_001098623.2:c.9747G>C NP_001092093.2:p.Gln3249His NC_000001.11:228287895:G:C p.(Gln3249His) NC_000001.11:228287895:G:C p.(Gln3249His) NC_000001.11:228287895:G:C Identity +NM_001253829.2:c.2309A>T NP_001240758.1:p.Lys770Met NC_000009.12:94104383:A:T p.(Lys770Met) NC_000009.12:94104383:A:T p.(Lys770Met) NC_000009.12:94104383:A:T Identity +NM_001199328.3:c.771A>C NP_001186257.3:p.Glu257Asp NC_000001.11:74205579:A:C p.(Glu257Asp) NC_000001.11:74205579:A:C p.(Glu257Asp) NC_000001.11:74205579:A:C Identity +NM_001286577.2:c.5443G>A NP_001273506.1:p.Asp1815Asn NC_000011.10:74048256:C:T p.(Asp1815Asn) NC_000011.10:74048256:C:T p.(Asp1815Asn) NC_000011.10:74048256:C:T Identity +NM_001111077.2:c.1010A>G NP_001104547.1:p.Lys337Arg NC_000006.12:158770843:T:C p.(Lys337Arg) NC_000006.12:158770843:T:C p.(Lys337Arg) NC_000006.12:158770843:T:C Identity +NM_001313726.2:c.1166G>A NP_001300655.1:p.Arg389His NC_000011.10:26537411:G:A p.(Arg389His) NC_000011.10:26537411:G:A p.(Arg389His) NC_000011.10:26537411:G:A Identity +NM_001010872.3:c.2795G>A NP_001010872.1:p.Arg932His NC_000006.12:54941765:G:A p.(Arg932His) NC_000006.12:54941765:G:A p.(Arg932His) NC_000006.12:54941765:G:A Identity +NM_001704.3:c.232C>T NP_001695.2:p.Leu78Phe NC_000006.12:68638906:C:T p.(Leu78Phe) NC_000006.12:68638906:C:T p.(Leu78Phe) NC_000006.12:68638906:C:T Identity +NM_153334.7:c.2528G>A NP_699165.3:p.Arg843Gln NC_000022.11:20425462:C:T p.(Arg843Gln) NC_000022.11:20425462:C:T p.(Arg843Gln) NC_000022.11:20425462:C:T Identity +NM_016333.4:c.8018G>A NP_057417.3:p.Arg2673Gln NC_000016.10:2769280:G:A p.(Arg2673Gln) NC_000016.10:2769280:G:A p.(Arg2673Gln) NC_000016.10:2769280:G:A Identity +NM_001013842.3:c.124G>A NP_001013864.1:p.Gly42Arg NC_000008.11:22600964:G:A p.(Gly42Arg) NC_000008.11:22600964:G:A p.(Gly42Arg) NC_000008.11:22600964:G:A Identity +NM_182539.4:c.185G>T NP_872345.2:p.Arg62Leu NC_000006.12:44287640:C:A p.(Arg62Leu) NC_000006.12:44287640:C:A p.(Arg62Leu) NC_000006.12:44287640:C:A Identity +NM_001134367.3:c.861C>G NP_001127839.2:p.Ile287Met NC_000003.12:14447774:C:G p.(Ile287Met) NC_000003.12:14447774:C:G p.(Ile287Met) NC_000003.12:14447774:C:G Identity +NM_001122964.3:c.2407T>A NP_001116436.3:p.Ser803Thr NC_000002.12:55558821:A:T p.(Ser803Thr) NC_000002.12:55558821:A:T p.(Ser803Thr) NC_000002.12:55558821:A:T Identity +NM_001170714.3:c.721C>T NP_001164185.1:p.Pro241Ser NC_000016.10:75242519:G:A p.(Pro241Ser) NC_000016.10:75242519:G:A p.(Pro241Ser) NC_000016.10:75242519:G:A Identity +NM_001297743.3:c.238A>G NP_001284672.1:p.Met80Val NC_000019.10:55810074:T:C p.(Met80Val) NC_000019.10:55810074:T:C p.(Met80Val) NC_000019.10:55810074:T:C Identity +NM_001278661.2:c.1493T>C NP_001265590.1:p.Ile498Thr NC_000019.10:24127615:T:C p.(Ile498Thr) NC_000019.10:24127615:T:C p.(Ile498Thr) NC_000019.10:24127615:T:C Identity +NM_001394237.1:c.722A>G NP_001381166.1:p.Lys241Arg NC_000019.10:43535670:A:G p.(Lys241Arg) NC_000019.10:43535670:A:G p.(Lys241Arg) NC_000019.10:43535670:A:G Identity +NM_001303615.2:c.521A>G NP_001290544.1:p.Asp174Gly NC_000011.10:19055881:T:C p.(Asp174Gly) NC_000011.10:19055881:T:C p.(Asp174Gly) NC_000011.10:19055881:T:C Identity +NM_004799.4:c.3548A>G NP_004790.2:p.Tyr1183Cys NC_000001.11:52332876:A:G p.(Tyr1183Cys) NC_000001.11:52332876:A:G p.(Tyr1183Cys) NC_000001.11:52332876:A:G Identity +NM_001297573.2:c.1727C>T NP_001284502.1:p.Ala576Val NC_000006.12:42263476:G:A p.(Ala576Val) NC_000006.12:42263476:G:A p.(Ala576Val) NC_000006.12:42263476:G:A Identity +NM_001297615.2:c.765A>G NP_001284544.1:p.Ile255Met NC_000004.12:69493797:T:C p.(Ile255Met) NC_000004.12:69493797:T:C p.(Ile255Met) NC_000004.12:69493797:T:C Identity +NM_014503.3:c.2995G>A NP_055318.2:p.Val999Ile NC_000012.12:101321582:G:A p.(Val999Ile) NC_000012.12:101321582:G:A p.(Val999Ile) NC_000012.12:101321582:G:A Identity +NM_001191055.2:c.319C>G NP_001177984.1:p.Gln107Glu NC_000019.10:53049569:C:G p.(Gln107Glu) NC_000019.10:53049569:C:G p.(Gln107Glu) NC_000019.10:53049569:C:G Identity +NM_000920.4:c.1907A>G NP_000911.2:p.Asn636Ser NC_000011.10:66851864:T:C p.(Asn636Ser) NC_000011.10:66851864:T:C p.(Asn636Ser) NC_000011.10:66851864:T:C Identity +NM_001079843.3:c.3923A>G NP_001073312.1:p.Gln1308Arg NC_000001.11:10643256:T:C p.(Gln1308Arg) NC_000001.11:10643256:T:C p.(Gln1308Arg) NC_000001.11:10643256:T:C Identity +NM_001319224.2:c.1346A>G NP_001306153.1:p.Asn449Ser NC_000001.11:241872112:A:G p.(Asn449Ser) NC_000001.11:241872112:A:G p.(Asn449Ser) NC_000001.11:241872112:A:G Identity +NM_001319193.2:c.286G>C NP_001306122.1:p.Asp96His NC_000017.11:75928186:C:G p.(Asp96His) NC_000017.11:75928186:C:G p.(Asp96His) NC_000017.11:75928186:C:G Identity +NM_001004713.2:c.166C>T NP_001004713.1:p.His56Tyr NC_000019.10:15087230:C:T p.(His56Tyr) NC_000019.10:15087230:C:T p.(His56Tyr) NC_000019.10:15087230:C:T Identity +NM_001080419.3:c.2182G>A NP_001073888.2:p.Ala728Thr NC_000017.11:75823426:G:A p.(Ala728Thr) NC_000017.11:75823426:G:A p.(Ala728Thr) NC_000017.11:75823426:G:A Identity +NM_001304743.2:c.2608A>G NP_001291672.1:p.Lys870Glu NC_000010.11:104008179:A:G p.(Lys870Glu) NC_000010.11:104008179:A:G p.(Lys870Glu) NC_000010.11:104008179:A:G Identity +NM_001004490.2:c.295C>G NP_001004490.1:p.Leu99Val NC_000011.10:6768662:G:C p.(Leu99Val) NC_000011.10:6768662:G:C p.(Leu99Val) NC_000011.10:6768662:G:C Identity +NM_001145961.2:c.532G>A NP_001139433.1:p.Gly178Ser NC_000016.10:67957753:C:T p.(Gly178Ser) NC_000016.10:67957753:C:T p.(Gly178Ser) NC_000016.10:67957753:C:T Identity +NM_024641.4:c.1029A>T NP_078917.2:p.Leu343Phe NC_000006.12:95606044:A:T p.(Leu343Phe) NC_000006.12:95606044:A:T p.(Leu343Phe) NC_000006.12:95606044:A:T Identity +NM_001033083.2:c.623C>T NP_001028255.1:p.Thr208Ile NC_000010.11:68288550:G:A p.(Thr208Ile) NC_000010.11:68288550:G:A p.(Thr208Ile) NC_000010.11:68288550:G:A Identity +NM_178229.5:c.2726G>A NP_839943.3:p.Arg909Gln NC_000001.11:156540720:C:T p.(Arg909Gln) NC_000001.11:156540720:C:T p.(Arg909Gln) NC_000001.11:156540720:C:T Identity +NM_014753.4:c.1624G>A NP_055568.3:p.Ala542Thr NC_000010.11:42796867:G:A p.(Ala542Thr) NC_000010.11:42796867:G:A p.(Ala542Thr) NC_000010.11:42796867:G:A Identity +NM_006437.4:c.26G>A NP_006428.2:p.Cys9Tyr NC_000013.11:24503750:C:T p.(Cys9Tyr) NC_000013.11:24503750:C:T p.(Cys9Tyr) NC_000013.11:24503750:C:T Identity +NM_001293.3:c.527A>T NP_001284.1:p.His176Leu NC_000011.10:77622618:T:A p.(His176Leu) NC_000011.10:77622618:T:A p.(His176Leu) NC_000011.10:77622618:T:A Identity +NM_005915.6:c.187G>A NP_005906.2:p.Val63Met NC_000002.12:135872763:C:T p.(Val63Met) NC_000002.12:135872763:C:T p.(Val63Met) NC_000002.12:135872763:C:T Identity +NM_002793.4:c.308A>G NP_002784.1:p.Tyr103Cys NC_000006.12:170543725:T:C p.(Tyr103Cys) NC_000006.12:170543725:T:C p.(Tyr103Cys) NC_000006.12:170543725:T:C Identity +NM_001277226.2:c.1486C>A NP_001264155.1:p.Arg496Ser NC_000012.12:71582460:C:A p.(Arg496Ser) NC_000012.12:71582460:C:A p.(Arg496Ser) NC_000012.12:71582460:C:A Identity +NM_003057.3:c.453T>G NP_003048.1:p.Phe151Leu NC_000006.12:160130144:T:G p.(Phe151Leu) NC_000006.12:160130144:T:G p.(Phe151Leu) NC_000006.12:160130144:T:G Identity +NM_153692.4:c.917G>A NP_710159.1:p.Gly306Glu NC_000008.11:38978097:G:A p.(Gly306Glu) NC_000008.11:38978097:G:A p.(Gly306Glu) NC_000008.11:38978097:G:A Identity +NM_003417.5:c.1340G>A NP_003408.1:p.Arg447Lys NC_000019.10:57212436:G:A p.(Arg447Lys) NC_000019.10:57212436:G:A p.(Arg447Lys) NC_000019.10:57212436:G:A Identity +NM_005458.8:c.2476A>G NP_005449.5:p.Ile826Val NC_000009.12:98299289:T:C p.(Ile826Val) NC_000009.12:98299289:T:C p.(Ile826Val) NC_000009.12:98299289:T:C Identity +NM_001134375.2:c.695C>T NP_001127847.1:p.Ala232Val NC_000010.11:96057201:C:T p.(Ala232Val) NC_000010.11:96057201:C:T p.(Ala232Val) NC_000010.11:96057201:C:T Identity +NM_005120.3:c.572C>T NP_005111.2:p.Thr191Ile NC_000023.11:71120988:C:T p.(Thr191Ile) NC_000023.11:71120988:C:T p.(Thr191Ile) NC_000023.11:71120988:C:T Identity +NM_001300946.3:c.1333A>G NP_001287875.1:p.Thr445Ala NC_000019.10:19501245:A:G p.(Thr445Ala) NC_000019.10:19501245:A:G p.(Thr445Ala) NC_000019.10:19501245:A:G Identity +NM_001363548.1:c.309G>T NP_001350477.1:p.Trp103Cys NC_000019.10:51458078:C:A p.(Trp103Cys) NC_000019.10:51458078:C:A p.(Trp103Cys) NC_000019.10:51458078:C:A Identity +NM_001201380.3:c.3540G>T NP_001188309.2:p.Lys1180Asn NC_000009.12:41898901:C:A p.(Lys1180Asn) NC_000009.12:41898901:C:A p.(Lys1180Asn) NC_000009.12:41898901:C:A Identity +NM_006686.4:c.118A>G NP_006677.1:p.Lys40Glu NC_000009.12:108855812:T:C p.(Lys40Glu) NC_000009.12:108855812:T:C p.(Lys40Glu) NC_000009.12:108855812:T:C Identity +NM_001321924.2:c.3G>C NP_001308853.1:p.Met1Ile NC_000015.10:64400816:G:C p.(Met1Ile) NC_000015.10:64400816:G:C p.Met1? NC_000015.10:64400816:G:C Identity +NM_018364.5:c.1346A>G NP_060834.2:p.Glu449Gly NC_000001.11:113797393:T:C p.(Glu449Gly) NC_000001.11:113797393:T:C p.(Glu449Gly) NC_000001.11:113797393:T:C Identity +NM_001317238.2:c.1420C>T NP_001304167.1:p.Arg474Trp NC_000001.11:1490614:C:T p.(Arg474Trp) NC_000001.11:1490614:C:T p.(Arg474Trp) NC_000001.11:1490614:C:T Identity +NM_153610.5:c.11590G>C NP_705838.3:p.Val3864Leu NC_000005.10:79789004:G:C p.(Val3864Leu) NC_000005.10:79789004:G:C p.(Val3864Leu) NC_000005.10:79789004:G:C Identity +NM_001350234.2:c.1072G>T NP_001337163.1:p.Val358Leu NC_000001.11:9718744:G:T p.(Val358Leu) NC_000001.11:9718744:G:T p.(Val358Leu) NC_000001.11:9718744:G:T Identity +NM_001317002.2:c.476G>A NP_001303931.1:p.Cys159Tyr NC_000002.12:149214561:G:A p.(Cys159Tyr) NC_000002.12:149214561:G:A p.(Cys159Tyr) NC_000002.12:149214561:G:A Identity +NM_005140.3:c.1228A>G NP_005131.1:p.Ile410Val NC_000023.11:151743730:A:G p.(Ile410Val) NC_000023.11:151743730:A:G p.(Ile410Val) NC_000023.11:151743730:A:G Identity +NM_001080504.3:c.1726C>G NP_001073973.3:p.His576Asp NC_000002.12:237818948:C:G p.(His576Asp) NC_000002.12:237818948:C:G p.(His576Asp) NC_000002.12:237818948:C:G Identity +NM_000677.4:c.617A>T NP_000668.1:p.Asn206Ile NC_000001.11:111500289:T:A p.(Asn206Ile) NC_000001.11:111500289:T:A p.(Asn206Ile) NC_000001.11:111500289:T:A Identity +NM_001005783.3:c.376C>G NP_001005783.2:p.Leu126Val NC_000001.11:119384828:C:G p.(Leu126Val) NC_000001.11:119384828:C:G p.(Leu126Val) NC_000001.11:119384828:C:G Identity +NM_001025598.2:c.1334G>A NP_001020769.1:p.Arg445His NC_000001.11:161051399:C:T p.(Arg445His) NC_000001.11:161051399:C:T p.(Arg445His) NC_000001.11:161051399:C:T Identity +NM_001411000.1:c.637C>T NP_001397929.1:p.Arg213Trp NC_000012.12:131844001:C:T p.(Arg213Trp) NC_000012.12:131844001:C:T p.(Arg213Trp) NC_000012.12:131844001:C:T Identity +NM_001324371.2:c.769C>T NP_001311300.1:p.Arg257Trp NC_000016.10:20423916:C:T p.(Arg257Trp) NC_000016.10:20423916:C:T p.(Arg257Trp) NC_000016.10:20423916:C:T Identity +NM_001114092.2:c.256C>A NP_001107564.1:p.His86Asn NC_000003.12:9366910:C:A p.(His86Asn) NC_000003.12:9366910:C:A p.(His86Asn) NC_000003.12:9366910:C:A Identity +NM_003747.3:c.230G>A NP_003738.2:p.Arg77Lys NC_000008.11:9556168:G:A p.(Arg77Lys) NC_000008.11:9556168:G:A p.(Arg77Lys) NC_000008.11:9556168:G:A Identity +NM_001029860.4:c.26G>T NP_001025031.2:p.Arg9Ile NC_000008.11:100145109:C:A p.(Arg9Ile) NC_000008.11:100145109:C:A p.(Arg9Ile) NC_000008.11:100145109:C:A Identity +NM_001370401.1:c.329C>A NP_001357330.1:p.Pro110Gln NC_000016.10:426334:C:A p.(Pro110Gln) NC_000016.10:426334:C:A p.(Pro110Gln) NC_000016.10:426334:C:A Identity +NM_001142864.4:c.2326G>C NP_001136336.2:p.Glu776Gln NC_000016.10:88733908:C:G p.(Glu776Gln) NC_000016.10:88733908:C:G p.(Glu776Gln) NC_000016.10:88733908:C:G Identity +NM_001367624.2:c.11681C>T NP_001354553.1:p.Ala3894Val NC_000016.10:88439150:C:T p.(Ala3894Val) NC_000016.10:88439150:C:T p.(Ala3894Val) NC_000016.10:88439150:C:T Identity +NM_001204158.3:c.1042C>T NP_001191087.1:p.Pro348Ser NC_000019.10:48629026:C:T p.(Pro348Ser) NC_000019.10:48629026:C:T p.(Pro348Ser) NC_000019.10:48629026:C:T Identity +NM_001020658.2:c.874G>A NP_001018494.1:p.Val292Ile NC_000001.11:30995066:C:T p.(Val292Ile) NC_000001.11:30995066:C:T p.(Val292Ile) NC_000001.11:30995066:C:T Identity +NM_001291314.2:c.137G>T NP_001278243.1:p.Arg46Leu NC_000012.12:10882661:C:A p.(Arg46Leu) NC_000012.12:10882661:C:A p.(Arg46Leu) NC_000012.12:10882661:C:A Identity +NM_001080779.2:c.385A>G NP_001074248.1:p.Thr129Ala NC_000017.11:1483021:T:C p.(Thr129Ala) NC_000017.11:1483021:T:C p.(Thr129Ala) NC_000017.11:1483021:T:C Identity +NM_001159944.3:c.2379T>A NP_001153416.1:p.Asp793Glu NC_000019.10:7863662:T:A p.(Asp793Glu) NC_000019.10:7863662:T:A p.(Asp793Glu) NC_000019.10:7863662:T:A Identity +NM_014503.3:c.3473T>C NP_055318.2:p.Met1158Thr NC_000012.12:101333355:T:C p.(Met1158Thr) NC_000012.12:101333355:T:C p.(Met1158Thr) NC_000012.12:101333355:T:C Identity +NM_016378.3:c.289G>A NP_057462.2:p.Glu97Lys NC_000023.11:8170162:C:T p.(Glu97Lys) NC_000023.11:8170162:C:T p.(Glu97Lys) NC_000023.11:8170162:C:T Identity +NM_001267722.2:c.392T>C NP_001254651.1:p.Val131Ala NC_000004.12:56474090:T:C p.(Val131Ala) NC_000004.12:56474090:T:C p.(Val131Ala) NC_000004.12:56474090:T:C Identity +NM_001012478.2:c.242G>A NP_001012496.1:p.Arg81His NC_000019.10:55660526:G:A p.(Arg81His) NC_000019.10:55660526:G:A p.(Arg81His) NC_000019.10:55660526:G:A Identity +NM_001395491.1:c.589G>T NP_001382420.1:p.Gly197Cys NC_000011.10:65947413:G:T p.(Gly197Cys) NC_000011.10:65947413:G:T p.(Gly197Cys) NC_000011.10:65947413:G:T Identity +NM_015302.2:c.431G>A NP_056117.1:p.Arg144Gln NC_000019.10:35615331:G:A p.(Arg144Gln) NC_000019.10:35615331:G:A p.(Arg144Gln) NC_000019.10:35615331:G:A Identity +NM_001271593.2:c.536T>A NP_001258522.1:p.Met179Lys NC_000011.10:74230381:T:A p.(Met179Lys) NC_000011.10:74230381:T:A p.(Met179Lys) NC_000011.10:74230381:T:A Identity +NM_001410926.1:c.179A>G NP_001397855.1:p.Tyr60Cys NC_000008.11:63035700:T:C p.(Tyr60Cys) NC_000008.11:63035700:T:C p.(Tyr60Cys) NC_000008.11:63035700:T:C Identity +NM_001080453.3:c.1504A>G NP_001073922.2:p.Ile502Val NC_000007.14:1497235:T:C p.(Ile502Val) NC_000007.14:1497235:T:C p.(Ile502Val) NC_000007.14:1497235:T:C Identity +NM_001174084.2:c.140A>C NP_001167555.1:p.His47Pro NC_000010.11:101586131:T:G p.(His47Pro) NC_000010.11:101586131:T:G p.(His47Pro) NC_000010.11:101586131:T:G Identity +NM_001410739.1:c.203T>C NP_001397668.1:p.Met68Thr NC_000002.12:27485110:A:G p.(Met68Thr) NC_000002.12:27485110:A:G p.(Met68Thr) NC_000002.12:27485110:A:G Identity +NM_001163678.2:c.14C>A NP_001157150.1:p.Thr5Lys NC_000003.12:158106010:G:T p.(Thr5Lys) NC_000003.12:158106010:G:T p.(Thr5Lys) NC_000003.12:158106010:G:T Identity +NM_001348013.2:c.848G>T NP_001334942.1:p.Ser283Ile NC_000019.10:12187423:G:T p.(Ser283Ile) NC_000019.10:12187423:G:T p.(Ser283Ile) NC_000019.10:12187423:G:T Identity +NM_014918.5:c.1612A>T NP_055733.2:p.Ile538Phe NC_000015.10:101178184:T:A p.(Ile538Phe) NC_000015.10:101178184:T:A p.(Ile538Phe) NC_000015.10:101178184:T:A Identity +NM_001256124.2:c.976C>T NP_001243053.1:p.Arg326Cys NC_000017.11:75891290:G:A p.(Arg326Cys) NC_000017.11:75891290:G:A p.(Arg326Cys) NC_000017.11:75891290:G:A Identity +NM_001304815.2:c.5512C>A NP_001291744.1:p.Pro1838Thr NC_000019.10:42291643:C:A p.(Pro1838Thr) NC_000019.10:42291643:C:A p.(Pro1838Thr) NC_000019.10:42291643:C:A Identity +NM_001370087.1:c.919G>A NP_001357016.1:p.Ala307Thr NC_000019.10:35450632:G:A p.(Ala307Thr) NC_000019.10:35450632:G:A p.(Ala307Thr) NC_000019.10:35450632:G:A Identity +NM_018938.4:c.1249A>T NP_061761.1:p.Asn417Tyr NC_000005.10:141123246:A:T p.(Asn417Tyr) NC_000005.10:141123246:A:T p.(Asn417Tyr) NC_000005.10:141123246:A:T Identity +NM_001393587.1:c.802C>T NP_001380516.1:p.Arg268Trp NC_000022.11:36141396:G:A p.(Arg268Trp) NC_000022.11:36141396:G:A p.(Arg268Trp) NC_000022.11:36141396:G:A Identity +NM_001199280.2:c.524G>A NP_001186209.1:p.Arg175Gln NC_000016.10:69109918:G:A p.(Arg175Gln) NC_000016.10:69109918:G:A p.(Arg175Gln) NC_000016.10:69109918:G:A Identity +NM_001167970.2:c.944G>T NP_001161442.1:p.Arg315Leu NC_000023.11:101021222:C:A p.(Arg315Leu) NC_000023.11:101021222:C:A p.(Arg315Leu) NC_000023.11:101021222:C:A Identity +NM_001166034.2:c.1021A>G NP_001159506.1:p.Ser341Gly NC_000019.10:35527260:T:C p.(Ser341Gly) NC_000019.10:35527260:T:C p.(Ser341Gly) NC_000019.10:35527260:T:C Identity +NM_001136199.3:c.1915G>T NP_001129671.1:p.Ala639Ser NC_000019.10:35023329:G:T p.(Ala639Ser) NC_000019.10:35023329:G:T p.(Ala639Ser) NC_000019.10:35023329:G:T Identity +NM_001127493.3:c.4085G>T NP_001120965.1:p.Arg1362Met NC_000004.12:113341905:G:T p.(Arg1362Met) NC_000004.12:113341905:G:T p.(Arg1362Met) NC_000004.12:113341905:G:T Identity +NM_001169117.2:c.1603G>T NP_001162588.1:p.Ala535Ser NC_000004.12:27017823:G:T p.(Ala535Ser) NC_000004.12:27017823:G:T p.(Ala535Ser) NC_000004.12:27017823:G:T Identity +NM_001297573.2:c.2315T>A NP_001284502.1:p.Leu772Gln NC_000006.12:42259352:A:T p.(Leu772Gln) NC_000006.12:42259352:A:T p.(Leu772Gln) NC_000006.12:42259352:A:T Identity +NM_001280788.2:c.139G>A NP_001267717.1:p.Gly47Ser NC_000009.12:133367309:C:T p.(Gly47Ser) NC_000009.12:133367309:C:T p.(Gly47Ser) NC_000009.12:133367309:C:T Identity +NM_001162914.1:c.570C>A NP_001156386.1:p.Phe190Leu NC_000008.11:143707443:G:T p.(Phe190Leu) NC_000008.11:143707443:G:T p.(Phe190Leu) NC_000008.11:143707443:G:T Identity +NM_002389.4:c.251A>C NP_002380.3:p.His84Pro NC_000001.11:207757166:A:C p.(His84Pro) NC_000001.11:207757166:A:C p.(His84Pro) NC_000001.11:207757166:A:C Identity +NM_001120.5:c.1232G>C NP_001111.3:p.Gly411Ala NC_000004.12:2931080:C:G p.(Gly411Ala) NC_000004.12:2931080:C:G p.(Gly411Ala) NC_000004.12:2931080:C:G Identity +NM_080627.4:c.4086G>C NP_542194.2:p.Glu1362Asp NC_000020.11:36793995:C:G p.(Glu1362Asp) NC_000020.11:36793995:C:G p.(Glu1362Asp) NC_000020.11:36793995:C:G Identity +NM_020185.6:c.515C>T NP_064570.1:p.Pro172Leu NC_000006.12:350827:C:T p.(Pro172Leu) NC_000006.12:350827:C:T p.(Pro172Leu) NC_000006.12:350827:C:T Identity +NM_152309.3:c.230A>T NP_689522.2:p.Gln77Leu NC_000010.11:96709766:T:A p.(Gln77Leu) NC_000010.11:96709766:T:A p.(Gln77Leu) NC_000010.11:96709766:T:A Identity +NM_001381902.1:c.995C>T NP_001368831.1:p.Pro332Leu NC_000023.11:135907429:C:T p.(Pro332Leu) NC_000023.11:135907429:C:T p.(Pro332Leu) NC_000023.11:135907429:C:T Identity +NM_001350174.1:c.964C>T NP_001337103.1:p.Arg322Cys NC_000001.11:109488930:C:T p.(Arg322Cys) NC_000001.11:109488930:C:T p.(Arg322Cys) NC_000001.11:109488930:C:T Identity +NM_001039112.2:c.3491C>T NP_001034201.2:p.Ser1164Phe NC_000008.11:124064508:C:T p.(Ser1164Phe) NC_000008.11:124064508:C:T p.(Ser1164Phe) NC_000008.11:124064508:C:T Identity +NM_033071.5:c.8503G>A NP_149062.2:p.Ala2835Thr NC_000006.12:152387076:C:T p.(Ala2835Thr) NC_000006.12:152387076:C:T p.(Ala2835Thr) NC_000006.12:152387076:C:T Identity +NM_001258419.2:c.698C>T NP_001245348.1:p.Ala233Val NC_000011.10:40115594:G:A p.(Ala233Val) NC_000011.10:40115594:G:A p.(Ala233Val) NC_000011.10:40115594:G:A Identity +NM_001410739.1:c.3110A>G NP_001397668.1:p.Lys1037Arg NC_000002.12:27457690:T:C p.(Lys1037Arg) NC_000002.12:27457690:T:C p.(Lys1037Arg) NC_000002.12:27457690:T:C Identity +NM_178511.6:c.157C>T NP_848606.3:p.Leu53Phe NC_000019.10:47275075:C:T p.(Leu53Phe) NC_000019.10:47275075:C:T p.(Leu53Phe) NC_000019.10:47275075:C:T Identity +NM_020987.5:c.6188G>A NP_066267.2:p.Arg2063Lys NC_000010.11:60074692:C:T p.(Arg2063Lys) NC_000010.11:60074692:C:T p.(Arg2063Lys) NC_000010.11:60074692:C:T Identity +NM_001077.4:c.826G>T NP_001068.1:p.Asp276Tyr NC_000004.12:68565618:C:A p.(Asp276Tyr) NC_000004.12:68565618:C:A p.(Asp276Tyr) NC_000004.12:68565618:C:A Identity +NM_001137559.1:c.211G>A NP_001131031.1:p.Val71Met NC_000012.12:121345920:C:T p.(Val71Met) NC_000012.12:121345920:C:T p.(Val71Met) NC_000012.12:121345920:C:T Identity +NM_002483.7:c.275G>T NP_002474.4:p.Gly92Val NC_000019.10:41756809:G:T p.(Gly92Val) NC_000019.10:41756809:G:T p.(Gly92Val) NC_000019.10:41756809:G:T Identity +NM_002813.7:c.199G>A NP_002804.2:p.Val67Met NC_000012.12:121894798:G:A p.(Val67Met) NC_000012.12:121894798:G:A p.(Val67Met) NC_000012.12:121894798:G:A Identity +NM_020877.5:c.9637G>A NP_065928.2:p.Val3213Met NC_000017.11:7807493:G:A p.(Val3213Met) NC_000017.11:7807493:G:A p.(Val3213Met) NC_000017.11:7807493:G:A Identity +NM_001144950.2:c.1012G>A NP_001138422.1:p.Ala338Thr NC_000019.10:55493710:G:A p.(Ala338Thr) NC_000019.10:55493710:G:A p.(Ala338Thr) NC_000019.10:55493710:G:A Identity +NM_012318.3:c.343C>T NP_036450.1:p.Arg115Cys NC_000004.12:1841597:G:A p.(Arg115Cys) NC_000004.12:1841597:G:A p.(Arg115Cys) NC_000004.12:1841597:G:A Identity +NM_001040424.3:c.1096G>A NP_001035514.2:p.Gly366Arg NC_000021.9:41836554:C:T p.(Gly366Arg) NC_000021.9:41836554:C:T p.(Gly366Arg) NC_000021.9:41836554:C:T Identity +NM_001136506.2:c.1217G>A NP_001129978.2:p.Arg406Gln NC_000011.10:63083310:C:T p.(Arg406Gln) NC_000011.10:63083310:C:T p.(Arg406Gln) NC_000011.10:63083310:C:T Identity +NM_001317968.2:c.1183A>G NP_001304897.1:p.Thr395Ala NC_000009.12:137614945:A:G p.(Thr395Ala) NC_000009.12:137614945:A:G p.(Thr395Ala) NC_000009.12:137614945:A:G Identity +NM_001291726.2:c.320C>G NP_001278655.1:p.Thr107Ser NC_000017.11:39674638:G:C p.(Thr107Ser) NC_000017.11:39674638:G:C p.(Thr107Ser) NC_000017.11:39674638:G:C Identity +NM_001200001.2:c.863C>A NP_001186930.1:p.Pro288Gln NC_000001.11:119986970:G:T p.(Pro288Gln) NC_000001.11:119986970:G:T p.(Pro288Gln) NC_000001.11:119986970:G:T Identity +NM_001256324.2:c.839G>A NP_001243253.1:p.Arg280Gln NC_000017.11:50572645:G:A p.(Arg280Gln) NC_000017.11:50572645:G:A p.(Arg280Gln) NC_000017.11:50572645:G:A Identity +NM_003019.5:c.172G>A NP_003010.4:p.Gly58Ser NC_000010.11:79946487:C:T p.(Gly58Ser) NC_000010.11:79946487:C:T p.(Gly58Ser) NC_000010.11:79946487:C:T Identity +NM_152701.5:c.7502C>G NP_689914.3:p.Thr2501Ser NC_000007.14:48278695:C:G p.(Thr2501Ser) NC_000007.14:48278695:C:G p.(Thr2501Ser) NC_000007.14:48278695:C:G Identity +NM_001142503.3:c.280C>A NP_001135975.1:p.His94Asn NC_000023.11:68716413:C:A p.(His94Asn) NC_000023.11:68716413:C:A p.(His94Asn) NC_000023.11:68716413:C:A Identity +NM_001300927.2:c.67G>A NP_001287856.1:p.Ala23Thr NC_000019.10:18342890:G:A p.(Ala23Thr) NC_000019.10:18342890:G:A p.(Ala23Thr) NC_000019.10:18342890:G:A Identity +NM_021257.4:c.8G>T NP_067080.1:p.Arg3Leu NC_000014.9:77270929:C:A p.(Arg3Leu) NC_000014.9:77270929:C:A p.(Arg3Leu) NC_000014.9:77270929:C:A Identity +NM_001080997.3:c.386A>G NP_001074466.1:p.Asp129Gly NC_000019.10:12826850:T:C p.(Asp129Gly) NC_000019.10:12826850:T:C p.(Asp129Gly) NC_000019.10:12826850:T:C Identity +NM_004468.5:c.47G>T NP_004459.2:p.Gly16Val NC_000001.11:37999365:C:A p.(Gly16Val) NC_000001.11:37999365:C:A p.(Gly16Val) NC_000001.11:37999365:C:A Identity +NM_012098.3:c.661C>T NP_036230.1:p.Pro221Ser NC_000009.12:127108070:G:A p.(Pro221Ser) NC_000009.12:127108070:G:A p.(Pro221Ser) NC_000009.12:127108070:G:A Identity +NM_001145031.3:c.673T>C NP_001138503.2:p.Ser225Pro NC_000010.11:73914022:T:C p.(Ser225Pro) NC_000010.11:73914022:T:C p.(Ser225Pro) NC_000010.11:73914022:T:C Identity +NM_001081637.3:c.1669G>A NP_001075106.2:p.Glu557Lys NC_000019.10:54636508:G:A p.(Glu557Lys) NC_000019.10:54636508:G:A p.(Glu557Lys) NC_000019.10:54636508:G:A Identity +NM_001270483.1:c.811G>A NP_001257412.1:p.Val271Met NC_000022.11:37011109:C:T p.(Val271Met) NC_000022.11:37011109:C:T p.(Val271Met) NC_000022.11:37011109:C:T Identity +NM_014106.4:c.1292T>C NP_054825.2:p.Ile431Thr NC_000015.10:34982142:A:G p.(Ile431Thr) NC_000015.10:34982142:A:G p.(Ile431Thr) NC_000015.10:34982142:A:G Identity +NM_002458.3:c.14108C>T NP_002449.2:p.Thr4703Ile NC_000011.10:1250987:C:T p.(Thr4703Ile) NC_000011.10:1250987:C:T p.(Thr4703Ile) NC_000011.10:1250987:C:T Identity +NM_177531.6:c.5768C>A NP_803875.2:p.Pro1923Gln NC_000008.11:109445636:C:A p.(Pro1923Gln) NC_000008.11:109445636:C:A p.(Pro1923Gln) NC_000008.11:109445636:C:A Identity +NM_001166018.2:c.347C>T NP_001159490.1:p.Ala116Val NC_000007.14:39207455:C:T p.(Ala116Val) NC_000007.14:39207455:C:T p.(Ala116Val) NC_000007.14:39207455:C:T Identity +NM_001128217.3:c.746A>G NP_001121689.1:p.Asp249Gly NC_000009.12:15474120:T:C p.(Asp249Gly) NC_000009.12:15474120:T:C p.(Asp249Gly) NC_000009.12:15474120:T:C Identity +NM_002976.4:c.2766C>A NP_002967.2:p.Asn922Lys NC_000002.12:166427874:G:T p.(Asn922Lys) NC_000002.12:166427874:G:T p.(Asn922Lys) NC_000002.12:166427874:G:T Identity +NM_001010870.3:c.332C>T NP_001010870.1:p.Ser111Leu NC_000006.12:46688459:C:T p.(Ser111Leu) NC_000006.12:46688459:C:T p.(Ser111Leu) NC_000006.12:46688459:C:T Identity +NM_001330469.2:c.176C>T NP_001317398.1:p.Ala59Val NC_000019.10:18912996:G:A p.(Ala59Val) NC_000019.10:18912996:G:A p.(Ala59Val) NC_000019.10:18912996:G:A Identity +NM_018900.4:c.35G>T NP_061723.1:p.Arg12Leu NC_000005.10:140786324:G:T p.(Arg12Leu) NC_000005.10:140786324:G:T p.(Arg12Leu) NC_000005.10:140786324:G:T Identity +NM_001144871.2:c.517T>C NP_001138343.1:p.Cys173Arg NC_000011.10:93820784:A:G p.(Cys173Arg) NC_000011.10:93820784:A:G p.(Cys173Arg) NC_000011.10:93820784:A:G Identity +NM_002141.5:c.56C>T NP_002132.3:p.Pro19Leu NC_000007.14:27130677:G:A p.(Pro19Leu) NC_000007.14:27130677:G:A p.(Pro19Leu) NC_000007.14:27130677:G:A Identity +NM_021138.4:c.298G>T NP_066961.2:p.Val100Leu NC_000009.12:136900451:G:T p.(Val100Leu) NC_000009.12:136900451:G:T p.(Val100Leu) NC_000009.12:136900451:G:T Identity +NM_012343.4:c.38C>T NP_036475.3:p.Ser13Leu NC_000005.10:43609232:C:T p.(Ser13Leu) NC_000005.10:43609232:C:T p.(Ser13Leu) NC_000005.10:43609232:C:T Identity +NM_001282663.2:c.2483C>G NP_001269592.1:p.Ser828Cys NC_000011.10:12242358:C:G p.(Ser828Cys) NC_000011.10:12242358:C:G p.(Ser828Cys) NC_000011.10:12242358:C:G Identity +NM_133448.3:c.722G>A NP_597705.2:p.Arg241Lys NC_000012.12:129700055:C:T p.(Arg241Lys) NC_000012.12:129700055:C:T p.(Arg241Lys) NC_000012.12:129700055:C:T Identity +NM_130386.3:c.182T>C NP_569057.2:p.Val61Ala NC_000018.10:348162:A:G p.(Val61Ala) NC_000018.10:348162:A:G p.(Val61Ala) NC_000018.10:348162:A:G Identity +NM_001005183.1:c.847A>G NP_001005183.1:p.Asn283Asp NC_000012.12:55427099:A:G p.(Asn283Asp) NC_000012.12:55427099:A:G p.(Asn283Asp) NC_000012.12:55427099:A:G Identity +NM_001003407.2:c.768G>C NP_001003407.1:p.Gln256His NC_000010.11:114491824:C:G p.(Gln256His) NC_000010.11:114491824:C:G p.(Gln256His) NC_000010.11:114491824:C:G Identity +NM_001411094.1:c.5C>G NP_001398023.1:p.Ala2Gly NC_000017.11:36949129:C:G p.(Ala2Gly) NC_000017.11:36949129:C:G p.(Ala2Gly) NC_000017.11:36949129:C:G Identity +NM_001163391.2:c.1703T>G NP_001156863.1:p.Leu568Arg NC_000006.12:28390586:A:C p.(Leu568Arg) NC_000006.12:28390586:A:C p.(Leu568Arg) NC_000006.12:28390586:A:C Identity +NM_206996.4:c.514G>C NP_996879.1:p.Ala172Pro NC_000001.11:118101859:C:G p.(Ala172Pro) NC_000001.11:118101859:C:G p.(Ala172Pro) NC_000001.11:118101859:C:G Identity +NM_014272.5:c.4214C>T NP_055087.2:p.Ala1405Val NC_000015.10:78765696:G:A p.(Ala1405Val) NC_000015.10:78765696:G:A p.(Ala1405Val) NC_000015.10:78765696:G:A Identity +NM_015180.6:c.13975T>C NP_055995.4:p.Ser4659Pro NC_000014.9:64128508:T:C p.(Ser4659Pro) NC_000014.9:64128508:T:C p.(Ser4659Pro) NC_000014.9:64128508:T:C Identity +NM_013939.2:c.170C>T NP_039227.1:p.Thr57Met NC_000019.10:15728212:C:T p.(Thr57Met) NC_000019.10:15728212:C:T p.(Thr57Met) NC_000019.10:15728212:C:T Identity +NM_005977.4:c.755G>A NP_005968.1:p.Arg252His NC_000013.11:26215126:C:T p.(Arg252His) NC_000013.11:26215126:C:T p.(Arg252His) NC_000013.11:26215126:C:T Identity +NM_015086.2:c.1072C>G NP_055901.2:p.Pro358Ala NC_000012.12:48997803:G:C p.(Pro358Ala) NC_000012.12:48997803:G:C p.(Pro358Ala) NC_000012.12:48997803:G:C Identity +NM_015009.3:c.182C>T NP_055824.1:p.Ser61Leu NC_000003.12:73624643:G:A p.(Ser61Leu) NC_000003.12:73624643:G:A p.(Ser61Leu) NC_000003.12:73624643:G:A Identity +NM_001369657.1:c.158C>G NP_001356586.1:p.Thr53Ser NC_000016.10:67993054:G:C p.(Thr53Ser) NC_000016.10:67993054:G:C p.(Thr53Ser) NC_000016.10:67993054:G:C Identity +NM_003458.4:c.6988C>T NP_003449.2:p.Pro2330Ser NC_000003.12:49656543:C:T p.(Pro2330Ser) NC_000003.12:49656543:C:T p.(Pro2330Ser) NC_000003.12:49656543:C:T Identity +NM_001199144.2:c.8935G>C NP_001186073.1:p.Ala2979Pro NC_000002.12:167250992:G:C p.(Ala2979Pro) NC_000002.12:167250992:G:C p.(Ala2979Pro) NC_000002.12:167250992:G:C Identity +NM_173551.5:c.578C>A NP_775822.3:p.Thr193Lys NC_000009.12:98790387:G:T p.(Thr193Lys) NC_000009.12:98790387:G:T p.(Thr193Lys) NC_000009.12:98790387:G:T Identity +NM_001201575.2:c.688C>A NP_001188504.1:p.Pro230Thr NC_000009.12:97035626:G:T p.(Pro230Thr) NC_000009.12:97035626:G:T p.(Pro230Thr) NC_000009.12:97035626:G:T Identity +NM_001079910.2:c.965A>T NP_001073379.1:p.Lys322Met NC_000012.12:85055757:A:T p.(Lys322Met) NC_000012.12:85055757:A:T p.(Lys322Met) NC_000012.12:85055757:A:T Identity +NM_001300905.2:c.1688G>A NP_001287834.1:p.Arg563His NC_000012.12:56610499:C:T p.(Arg563His) NC_000012.12:56610499:C:T p.(Arg563His) NC_000012.12:56610499:C:T Identity +NM_001099402.2:c.1703C>T NP_001092872.1:p.Pro568Leu NC_000014.9:99510741:C:T p.(Pro568Leu) NC_000014.9:99510741:C:T p.(Pro568Leu) NC_000014.9:99510741:C:T Identity +NM_001083124.1:c.3740C>T NP_001076593.1:p.Pro1247Leu NC_000009.12:66986757:G:A p.(Pro1247Leu) NC_000009.12:66986757:G:A p.(Pro1247Leu) NC_000009.12:66986757:G:A Identity +NM_001284497.2:c.1046C>G NP_001271426.1:p.Ala349Gly NC_000016.10:263335:C:G p.(Ala349Gly) NC_000016.10:263335:C:G p.(Ala349Gly) NC_000016.10:263335:C:G Identity +NM_001304763.2:c.2233G>T NP_001291692.1:p.Ala745Ser NC_000001.11:151288644:G:T p.(Ala745Ser) NC_000001.11:151288644:G:T p.(Ala745Ser) NC_000001.11:151288644:G:T Identity +NM_001128588.4:c.910G>A NP_001122060.3:p.Ala304Thr NC_000018.10:45739240:G:A p.(Ala304Thr) NC_000018.10:45739240:G:A p.(Ala304Thr) NC_000018.10:45739240:G:A Identity +NM_001277171.2:c.979T>A NP_001264100.1:p.Ser327Thr NC_000004.12:154799140:T:A p.(Ser327Thr) NC_000004.12:154799140:T:A p.(Ser327Thr) NC_000004.12:154799140:T:A Identity +NM_001297765.2:c.434A>G NP_001284694.1:p.Glu145Gly NC_000005.10:90399383:T:C p.(Glu145Gly) NC_000005.10:90399383:T:C p.(Glu145Gly) NC_000005.10:90399383:T:C Identity +NM_001258329.1:c.1396T>A NP_001245258.1:p.Ser466Thr NC_000020.11:36194306:T:A p.(Ser466Thr) NC_000020.11:36194306:T:A p.(Ser466Thr) NC_000020.11:36194306:T:A Identity +NM_000081.4:c.7171_7173del NP_000072.2:p.Glu2391del NC_000001.11:235755533:TTCTT:TT p.(Glu2391del) NC_000001.11:235755533:TTCTT:TT p.(Glu2391del) NC_000001.11:235755533:TTC: Identity +NM_005966.4:c.1063A>G NP_005957.2:p.Lys355Glu NC_000002.12:190683794:A:G p.(Lys355Glu) NC_000002.12:190683794:A:G p.(Lys355Glu) NC_000002.12:190683794:A:G Identity +NM_022096.6:c.226G>A NP_071379.3:p.Val76Met NC_000020.11:10038526:G:A p.(Val76Met) NC_000020.11:10038526:G:A p.(Val76Met) NC_000020.11:10038526:G:A Identity +NM_133474.4:c.1090G>A NP_597731.2:p.Glu364Lys NC_000004.12:443376:C:T p.(Glu364Lys) NC_000004.12:443376:C:T p.(Glu364Lys) NC_000004.12:443376:C:T Identity +NM_001329920.2:c.431C>G NP_001316849.1:p.Pro144Arg NC_000011.10:124749862:G:C p.(Pro144Arg) NC_000011.10:124749862:G:C p.(Pro144Arg) NC_000011.10:124749862:G:C Identity +NM_001289823.2:c.1535G>A NP_001276752.1:p.Arg512His NC_000015.10:90880251:G:A p.(Arg512His) NC_000015.10:90880251:G:A p.(Arg512His) NC_000015.10:90880251:G:A Identity +NM_017943.4:c.91A>G NP_060413.2:p.Lys31Glu NC_000014.9:55350480:A:G p.(Lys31Glu) NC_000014.9:55350480:A:G p.(Lys31Glu) NC_000014.9:55350480:A:G Identity +NM_001004351.5:c.755G>A NP_001004351.3:p.Arg252Lys NC_000007.14:100311959:G:A p.(Arg252Lys) NC_000007.14:100311959:G:A p.(Arg252Lys) NC_000007.14:100311959:G:A Identity +NM_001385026.1:c.706A>G NP_001371955.1:p.Ser236Gly NC_000015.10:77181220:T:C p.(Ser236Gly) NC_000015.10:77181220:T:C p.(Ser236Gly) NC_000015.10:77181220:T:C Identity +NM_001350180.2:c.266T>C NP_001337109.1:p.Met89Thr NC_000001.11:147943496:T:C p.(Met89Thr) NC_000001.11:147943496:T:C p.(Met89Thr) NC_000001.11:147943496:T:C Identity +NM_001077182.3:c.615G>T NP_001070650.1:p.Glu205Asp NC_000017.11:81529145:G:T p.(Glu205Asp) NC_000017.11:81529145:G:T p.(Glu205Asp) NC_000017.11:81529145:G:T Identity +NM_001300942.2:c.2192A>G NP_001287871.1:p.Tyr731Cys NC_000011.10:76528418:A:G p.(Tyr731Cys) NC_000011.10:76528418:A:G p.(Tyr731Cys) NC_000011.10:76528418:A:G Identity +NM_014804.3:c.895G>A NP_055619.2:p.Ala299Thr NC_000017.11:6623090:C:T p.(Ala299Thr) NC_000017.11:6623090:C:T p.(Ala299Thr) NC_000017.11:6623090:C:T Identity +NM_001350933.2:c.194A>G NP_001337862.1:p.Glu65Gly NC_000010.11:73353611:T:C p.(Glu65Gly) NC_000010.11:73353611:T:C p.(Glu65Gly) NC_000010.11:73353611:T:C Identity +NM_172069.4:c.200A>C NP_742066.2:p.Glu67Ala NC_000002.12:43692526:A:C p.(Glu67Ala) NC_000002.12:43692526:A:C p.(Glu67Ala) NC_000002.12:43692526:A:C Identity +NM_001362481.2:c.505G>A NP_001349410.1:p.Val169Ile NC_000004.12:67519328:C:T p.(Val169Ile) NC_000004.12:67519328:C:T p.(Val169Ile) NC_000004.12:67519328:C:T Identity +NM_020639.3:c.2134G>A NP_065690.2:p.Ala712Thr NC_000021.9:41741058:C:T p.(Ala712Thr) NC_000021.9:41741058:C:T p.(Ala712Thr) NC_000021.9:41741058:C:T Identity +NM_001378454.1:c.8488T>C NP_001365383.1:p.Cys2830Arg NC_000002.12:73490446:T:C p.(Cys2830Arg) NC_000002.12:73490446:T:C p.(Cys2830Arg) NC_000002.12:73490446:T:C Identity +NM_203453.5:c.317T>G NP_982278.3:p.Leu106Arg NC_000009.12:4662691:T:G p.(Leu106Arg) NC_000009.12:4662691:T:G p.(Leu106Arg) NC_000009.12:4662691:T:G Identity +NM_001013657.3:c.118G>A NP_001013679.2:p.Gly40Arg NC_000015.10:90241025:G:A p.(Gly40Arg) NC_000015.10:90241025:G:A p.(Gly40Arg) NC_000015.10:90241025:G:A Identity +NM_144773.4:c.202G>T NP_658986.1:p.Gly68Cys NC_000020.11:5314167:C:A p.(Gly68Cys) NC_000020.11:5314167:C:A p.(Gly68Cys) NC_000020.11:5314167:C:A Identity +NM_001003698.4:c.3128G>A NP_001003698.1:p.Arg1043His NC_000006.12:7231226:G:A p.(Arg1043His) NC_000006.12:7231226:G:A p.(Arg1043His) NC_000006.12:7231226:G:A Identity +NM_001009811.4:c.2453C>T NP_001009811.2:p.Thr818Ile NC_000017.11:81192378:G:A p.(Thr818Ile) NC_000017.11:81192378:G:A p.(Thr818Ile) NC_000017.11:81192378:G:A Identity +NM_001164586.2:c.6836G>C NP_001158058.1:p.Ser2279Thr NC_000001.11:201211728:G:C p.(Ser2279Thr) NC_000001.11:201211728:G:C p.(Ser2279Thr) NC_000001.11:201211728:G:C Identity +NM_001243088.2:c.1781C>T NP_001230017.1:p.Ser594Phe NC_000012.12:2859103:G:A p.(Ser594Phe) NC_000012.12:2859103:G:A p.(Ser594Phe) NC_000012.12:2859103:G:A Identity +NM_018911.3:c.1882A>T NP_061734.1:p.Thr628Ser NC_000005.10:140843202:A:T p.(Thr628Ser) NC_000005.10:140843202:A:T p.(Thr628Ser) NC_000005.10:140843202:A:T Identity +NM_001286655.1:c.42G>C NP_001273584.1:p.Leu14Phe NC_000006.12:43454783:C:G p.(Leu14Phe) NC_000006.12:43454783:C:G p.(Leu14Phe) NC_000006.12:43454783:C:G Identity +NM_014981.3:c.4474A>G NP_055796.2:p.Arg1492Gly NC_000003.12:108410603:T:C p.(Arg1492Gly) NC_000003.12:108410603:T:C p.(Arg1492Gly) NC_000003.12:108410603:T:C Identity +NM_001005339.2:c.542C>T NP_001005339.1:p.Thr181Ile NC_000010.11:119500116:G:A p.(Thr181Ile) NC_000010.11:119500116:G:A p.(Thr181Ile) NC_000010.11:119500116:G:A Identity +NM_001001888.4:c.521T>C NP_001001888.3:p.Leu174Pro NC_000023.11:8466162:T:C p.(Leu174Pro) NC_000023.11:8466162:T:C p.(Leu174Pro) NC_000023.11:8466162:T:C Identity +NM_001127487.2:c.2230T>C NP_001120959.1:p.Trp744Arg NC_000007.14:128842338:T:C p.(Trp744Arg) NC_000007.14:128842338:T:C p.(Trp744Arg) NC_000007.14:128842338:T:C Identity +NM_000435.3:c.2354G>T NP_000426.2:p.Arg785Leu NC_000019.10:15184961:C:A p.(Arg785Leu) NC_000019.10:15184961:C:A p.(Arg785Leu) NC_000019.10:15184961:C:A Identity +NM_001178100.2:c.134T>C NP_001171571.1:p.Ile45Thr NC_000002.12:86858325:A:G p.(Ile45Thr) NC_000002.12:86858325:A:G p.(Ile45Thr) NC_000002.12:86858325:A:G Identity +NM_206996.4:c.5386A>G NP_996879.1:p.Lys1796Glu NC_000001.11:117991503:T:C p.(Lys1796Glu) NC_000001.11:117991503:T:C p.(Lys1796Glu) NC_000001.11:117991503:T:C Identity +NM_001003954.3:c.713T>G NP_001003954.1:p.Leu238Arg NC_000008.11:123693248:A:C p.(Leu238Arg) NC_000008.11:123693248:A:C p.(Leu238Arg) NC_000008.11:123693248:A:C Identity +NM_014287.4:c.3347C>T NP_055102.3:p.Ser1116Phe NC_000016.10:14889117:C:T p.(Ser1116Phe) NC_000016.10:14889117:C:T p.(Ser1116Phe) NC_000016.10:14889117:C:T Identity +NM_001128929.3:c.223A>G NP_001122401.1:p.Thr75Ala NC_000003.12:77098126:A:G p.(Thr75Ala) NC_000003.12:77098126:A:G p.(Thr75Ala) NC_000003.12:77098126:A:G Identity +NM_001252156.2:c.4349G>A NP_001239085.1:p.Ser1450Asn NC_000005.10:154889327:C:T p.(Ser1450Asn) NC_000005.10:154889327:C:T p.(Ser1450Asn) NC_000005.10:154889327:C:T Identity +NM_017414.4:c.511C>T NP_059110.2:p.Arg171Trp NC_000022.11:18167919:C:T p.(Arg171Trp) NC_000022.11:18167919:C:T p.(Arg171Trp) NC_000022.11:18167919:C:T Identity +NM_016585.5:c.974A>T NP_057669.1:p.Asp325Val NC_000019.10:362365:T:A p.(Asp325Val) NC_000019.10:362365:T:A p.(Asp325Val) NC_000019.10:362365:T:A Identity +NM_001536.6:c.617G>A NP_001527.3:p.Arg206Gln NC_000019.10:49684814:G:A p.(Arg206Gln) NC_000019.10:49684814:G:A p.(Arg206Gln) NC_000019.10:49684814:G:A Identity +NM_005926.3:c.1117A>G NP_005917.2:p.Ile373Val NC_000015.10:43805395:T:C p.(Ile373Val) NC_000015.10:43805395:T:C p.(Ile373Val) NC_000015.10:43805395:T:C Identity +NM_001006634.3:c.1583C>T NP_001006635.1:p.Pro528Leu NC_000016.10:24939504:G:A p.(Pro528Leu) NC_000016.10:24939504:G:A p.(Pro528Leu) NC_000016.10:24939504:G:A Identity +NM_001316350.2:c.761A>G NP_001303279.1:p.Lys254Arg NC_000001.11:231266295:A:G p.(Lys254Arg) NC_000001.11:231266295:A:G p.(Lys254Arg) NC_000001.11:231266295:A:G Identity +NM_001317895.2:c.2755T>A NP_001304824.1:p.Cys919Ser NC_000008.11:143977918:A:T p.(Cys919Ser) NC_000008.11:143977918:A:T p.(Cys919Ser) NC_000008.11:143977918:A:T Identity +NM_001305043.2:c.935C>G NP_001291972.1:p.Pro312Arg NC_000001.11:54032189:G:C p.(Pro312Arg) NC_000001.11:54032189:G:C p.(Pro312Arg) NC_000001.11:54032189:G:C Identity +NM_001080156.3:c.902C>T NP_001073625.1:p.Pro301Leu NC_000012.12:57475388:G:A p.(Pro301Leu) NC_000012.12:57475388:G:A p.(Pro301Leu) NC_000012.12:57475388:G:A Identity +NM_000760.4:c.124A>T NP_000751.1:p.Ile42Phe NC_000001.11:36475613:T:A p.(Ile42Phe) NC_000001.11:36475613:T:A p.(Ile42Phe) NC_000001.11:36475613:T:A Identity +NM_153366.4:c.10181G>T NP_699197.3:p.Gly3394Val NC_000009.12:110385953:C:A p.(Gly3394Val) NC_000009.12:110385953:C:A p.(Gly3394Val) NC_000009.12:110385953:C:A Identity +NM_001411112.1:c.1664G>T NP_001398041.1:p.Arg555Leu NC_000017.11:42670257:C:A p.(Arg555Leu) NC_000017.11:42670257:C:A p.(Arg555Leu) NC_000017.11:42670257:C:A Identity +NM_031431.4:c.131T>C NP_113619.3:p.Leu44Ser NC_000013.11:45465166:T:C p.(Leu44Ser) NC_000013.11:45465166:T:C p.(Leu44Ser) NC_000013.11:45465166:T:C Identity +NM_001387775.1:c.1106C>T NP_001374704.1:p.Ser369Phe NC_000001.11:46512465:C:T p.(Ser369Phe) NC_000001.11:46512465:C:T p.(Ser369Phe) NC_000001.11:46512465:C:T Identity +NM_001304333.3:c.77A>T NP_001291262.1:p.Asp26Val NC_000009.12:34971374:A:T p.(Asp26Val) NC_000009.12:34971374:A:T p.(Asp26Val) NC_000009.12:34971374:A:T Identity +NM_019112.4:c.3106A>G NP_061985.2:p.Thr1036Ala NC_000019.10:1052084:A:G p.(Thr1036Ala) NC_000019.10:1052084:A:G p.(Thr1036Ala) NC_000019.10:1052084:A:G Identity +NM_004700.4:c.50A>C NP_004691.2:p.Asp17Ala NC_000001.11:40784142:A:C p.(Asp17Ala) NC_000001.11:40784142:A:C p.(Asp17Ala) NC_000001.11:40784142:A:C Identity +NM_001177355.3:c.616C>A NP_001170826.1:p.Pro206Thr NC_000016.10:765214:C:A p.(Pro206Thr) NC_000016.10:765214:C:A p.(Pro206Thr) NC_000016.10:765214:C:A Identity +NM_020759.3:c.3691C>A NP_065810.2:p.Pro1231Thr NC_000015.10:42685268:C:A p.(Pro1231Thr) NC_000015.10:42685268:C:A p.(Pro1231Thr) NC_000015.10:42685268:C:A Identity +NM_001202543.2:c.2332C>A NP_001189472.1:p.Pro778Thr NC_000007.14:102201595:C:A p.(Pro778Thr) NC_000007.14:102201595:C:A p.(Pro778Thr) NC_000007.14:102201595:C:A Identity +NM_001330212.2:c.838T>C NP_001317141.1:p.Phe280Leu NC_000014.9:90270220:T:C p.(Phe280Leu) NC_000014.9:90270220:T:C p.(Phe280Leu) NC_000014.9:90270220:T:C Identity +NM_001286188.1:c.596A>G NP_001273117.1:p.Asn199Ser NC_000006.12:154792862:A:G p.(Asn199Ser) NC_000006.12:154792862:A:G p.(Asn199Ser) NC_000006.12:154792862:A:G Identity +NM_002238.4:c.2645A>C NP_002229.1:p.Glu882Ala NC_000001.11:210683524:T:G p.(Glu882Ala) NC_000001.11:210683524:T:G p.(Glu882Ala) NC_000001.11:210683524:T:G Identity +NM_003817.4:c.1166G>A NP_003808.2:p.Cys389Tyr NC_000008.11:24489232:G:A p.(Cys389Tyr) NC_000008.11:24489232:G:A p.(Cys389Tyr) NC_000008.11:24489232:G:A Identity +NM_001278425.3:c.1032C>G NP_001265354.2:p.Ser344Arg NC_000016.10:81167924:G:C p.(Ser344Arg) NW_025791800.1:216185:G:C p.(Ser344Arg) NC_000016.10:216185:A:C Identity +NM_001286791.2:c.238C>G NP_001273720.1:p.Gln80Glu NC_000004.12:48991536:C:G p.(Gln80Glu) NC_000004.12:48991536:C:G p.(Gln80Glu) NC_000004.12:48991536:C:G Identity +NM_001281447.3:c.209C>T NP_001268376.1:p.Thr70Met NC_000007.14:74832833:G:A p.(Thr70Met) NC_000007.14:74832833:G:A p.(Thr70Met) NC_000007.14:74832833:G:A Identity +NM_001098537.3:c.2098C>T NP_001092007.2:p.Leu700Phe NC_000009.12:137495061:G:A p.(Leu700Phe) NC_000009.12:137495061:G:A p.(Leu700Phe) NC_000009.12:137495061:G:A Identity +NM_020163.3:c.1553G>A NP_064548.1:p.Arg518Gln NC_000003.12:52438155:C:T p.(Arg518Gln) NC_000003.12:52438155:C:T p.(Arg518Gln) NC_000003.12:52438155:C:T Identity +NM_001283043.3:c.3919C>A NP_001269972.1:p.Leu1307Ile NC_000014.9:35655904:G:T p.(Leu1307Ile) NC_000014.9:35655904:G:T p.(Leu1307Ile) NC_000014.9:35655904:G:T Identity +NM_001323614.2:c.1222A>G NP_001310543.1:p.Asn408Asp NC_000001.11:156266573:T:C p.(Asn408Asp) NC_000001.11:156266573:T:C p.(Asn408Asp) NC_000001.11:156266573:T:C Identity +NM_004423.4:c.1952C>A NP_004414.3:p.Pro651Gln NC_000003.12:184170555:C:A p.(Pro651Gln) NC_000003.12:184170555:C:A p.(Pro651Gln) NC_000003.12:184170555:C:A Identity +NM_003412.4:c.1310C>T NP_003403.2:p.Ala437Val NC_000003.12:147413516:C:T p.(Ala437Val) NC_000003.12:147413516:C:T p.(Ala437Val) NC_000003.12:147413516:C:T Identity +NM_002751.7:c.793A>C NP_002742.3:p.Met265Leu NC_000022.11:50265629:T:G p.(Met265Leu) NC_000022.11:50265629:T:G p.(Met265Leu) NC_000022.11:50265629:T:G Identity +NM_003838.5:c.778G>A NP_003829.4:p.Asp260Asn NC_000001.11:74204824:G:A p.(Asp260Asn) NC_000001.11:74204824:G:A p.(Asp260Asn) NC_000001.11:74204824:G:A Identity +NM_001347701.2:c.397G>A NP_001334630.1:p.Glu133Lys NC_000006.12:152156096:C:T p.(Glu133Lys) NC_000006.12:152156096:C:T p.(Glu133Lys) NC_000006.12:152156096:C:T Identity +NM_080751.3:c.2041C>T NP_542789.2:p.Pro681Ser NC_000020.11:2617171:C:T p.(Pro681Ser) NC_000020.11:2617171:C:T p.(Pro681Ser) NC_000020.11:2617171:C:T Identity +NM_015092.5:c.145G>A NP_055907.3:p.Asp49Asn NC_000016.10:18896903:C:T p.(Asp49Asn) NC_000016.10:18896903:C:T p.(Asp49Asn) NC_000016.10:18896903:C:T Identity +NM_001029882.3:c.2119G>A NP_001025053.1:p.Val707Met NC_000001.11:27549996:C:T p.(Val707Met) NC_000001.11:27549996:C:T p.(Val707Met) NC_000001.11:27549996:C:T Identity +NM_001001674.2:c.168C>A NP_001001674.1:p.His56Gln NC_000015.10:101818353:C:A p.(His56Gln) NC_000015.10:101818353:C:A p.(His56Gln) NC_000015.10:101818353:C:A Identity +NM_020371.3:c.361T>C NP_065104.1:p.Tyr121His NC_000015.10:34003115:A:G p.(Tyr121His) NC_000015.10:34003115:A:G p.(Tyr121His) NC_000015.10:34003115:A:G Identity +NM_001144061.2:c.1944A>C NP_001137533.1:p.Glu648Asp NC_000011.10:14469356:T:G p.(Glu648Asp) NC_000011.10:14469356:T:G p.(Glu648Asp) NC_000011.10:14469356:T:G Identity +NM_001008493.3:c.1265A>C NP_001008493.1:p.Asn422Thr NC_000001.11:225512969:T:G p.(Asn422Thr) NC_000001.11:225512969:T:G p.(Asn422Thr) NC_000001.11:225512969:T:G Identity +NM_001039702.3:c.682G>A NP_001034791.1:p.Ala228Thr NC_000010.11:15073112:G:A p.(Ala228Thr) NC_000010.11:15073112:G:A p.(Ala228Thr) NC_000010.11:15073112:G:A Identity +NM_001145176.2:c.239A>C NP_001138648.1:p.Glu80Ala NC_000019.10:55442624:T:G p.(Glu80Ala) NC_000019.10:55442624:T:G p.(Glu80Ala) NC_000019.10:55442624:T:G Identity +NM_001384354.1:c.1621C>T NP_001371283.1:p.Arg541Cys NC_000020.11:59192639:C:T p.(Arg541Cys) NC_000020.11:59192639:C:T p.(Arg541Cys) NC_000020.11:59192639:C:T Identity +NM_001256160.3:c.1537A>G NP_001243089.1:p.Lys513Glu NC_000016.10:10480932:A:G p.(Lys513Glu) NC_000016.10:10480932:A:G p.(Lys513Glu) NC_000016.10:10480932:A:G Identity +NM_001307939.2:c.439C>T NP_001294868.1:p.Pro147Ser NC_000015.10:74544374:C:T p.(Pro147Ser) NC_000015.10:74544374:C:T p.(Pro147Ser) NC_000015.10:74544374:C:T Identity +NM_004565.3:c.205C>A NP_004556.1:p.Gln69Lys NC_000001.11:10599272:C:A p.(Gln69Lys) NC_000001.11:10599272:C:A p.(Gln69Lys) NC_000001.11:10599272:C:A Identity +NM_001365225.1:c.121C>G NP_001352154.1:p.Leu41Val NC_000015.10:72783570:G:C p.(Leu41Val) NC_000015.10:72783570:G:C p.(Leu41Val) NC_000015.10:72783570:G:C Identity +NM_001261824.1:c.700G>A NP_001248753.1:p.Val234Met NC_000021.9:39177511:C:T p.(Val234Met) NC_000021.9:39177511:C:T p.(Val234Met) NC_000021.9:39177511:C:T Identity +NM_001393552.1:c.3059G>C NP_001380481.1:p.Ser1020Thr NC_000019.10:4219618:G:C p.(Ser1020Thr) NC_000019.10:4219618:G:C p.(Ser1020Thr) NC_000019.10:4219618:G:C Identity +NM_213656.4:c.1127A>G NP_998821.3:p.Asn376Ser NC_000017.11:40960370:T:C p.(Asn376Ser) NC_000017.11:40960370:T:C p.(Asn376Ser) NC_000017.11:40960370:T:C Identity +NM_001200049.3:c.7070A>G NP_001186978.2:p.Glu2357Gly NC_000010.11:132833404:T:C p.(Glu2357Gly) NC_000010.11:132833404:T:C p.(Glu2357Gly) NC_000010.11:132833404:T:C Identity +NM_001363720.1:c.498G>T NP_001350649.1:p.Glu166Asp NC_000008.11:100596821:C:A p.(Glu166Asp) NC_000008.11:100596821:C:A p.(Glu166Asp) NC_000008.11:100596821:C:A Identity +NM_024694.4:c.1861C>T NP_078970.3:p.Pro621Ser NC_000006.12:146717001:C:T p.(Pro621Ser) NC_000006.12:146717001:C:T p.(Pro621Ser) NC_000006.12:146717001:C:T Identity +NM_001286242.2:c.4990C>T NP_001273171.1:p.Pro1664Ser NC_000016.10:27469374:G:A p.(Pro1664Ser) NC_000016.10:27469374:G:A p.(Pro1664Ser) NC_000016.10:27469374:G:A Identity +NM_001009611.4:c.53G>A NP_001009611.2:p.Ser18Asn NC_000001.11:12883341:C:T p.(Ser18Asn) NC_000001.11:12883341:C:T p.(Ser18Asn) NC_000001.11:12883341:C:T Identity +NM_001007240.3:c.1178G>A NP_001007241.2:p.Arg393Gln NC_000016.10:20318268:C:T p.(Arg393Gln) NC_000016.10:20318268:C:T p.(Arg393Gln) NC_000016.10:20318268:C:T Identity +NM_001244698.2:c.143G>A NP_001231627.1:p.Gly48Asp NC_000014.9:68790406:C:T p.(Gly48Asp) NC_000014.9:68790406:C:T p.(Gly48Asp) NC_000014.9:68790406:C:T Identity +NM_018230.3:c.1356A>C NP_060700.2:p.Leu452Phe NC_000001.11:229486514:T:G p.(Leu452Phe) NC_000001.11:229486514:T:G p.(Leu452Phe) NC_000001.11:229486514:T:G Identity +NM_001042683.3:c.1043A>G NP_001036148.2:p.Tyr348Cys NC_000006.12:145948289:T:C p.(Tyr348Cys) NC_000006.12:145948289:T:C p.(Tyr348Cys) NC_000006.12:145948289:T:C Identity +NM_000449.4:c.347C>T NP_000440.1:p.Ala116Val NC_000001.11:151344733:G:A p.(Ala116Val) NC_000001.11:151344733:G:A p.(Ala116Val) NC_000001.11:151344733:G:A Identity +NM_030632.3:c.4754G>A NP_085135.1:p.Gly1585Asp NC_000018.10:33744601:G:A p.(Gly1585Asp) NC_000018.10:33744601:G:A p.(Gly1585Asp) NC_000018.10:33744601:G:A Identity +NM_006598.3:c.1510C>T NP_006589.2:p.Pro504Ser NC_000005.10:1077951:G:A p.(Pro504Ser) NC_000005.10:1077951:G:A p.(Pro504Ser) NC_000005.10:1077951:G:A Identity +NM_001165963.4:c.1940G>C NP_001159435.1:p.Cys647Ser NC_000002.12:166043771:C:G p.(Cys647Ser) NC_000002.12:166043771:C:G p.(Cys647Ser) NC_000002.12:166043771:C:G Identity +NM_001367979.1:c.745A>C NP_001354908.1:p.Lys249Gln NC_000011.10:31305623:T:G p.(Lys249Gln) NC_000011.10:31305623:T:G p.(Lys249Gln) NC_000011.10:31305623:T:G Identity +NM_152744.4:c.167A>C NP_689957.3:p.Glu56Ala NC_000007.14:3301752:A:C p.(Glu56Ala) NC_000007.14:3301752:A:C p.(Glu56Ala) NC_000007.14:3301752:A:C Identity +NM_001001349.2:c.526G>T NP_001001349.1:p.Ala176Ser NC_000017.11:42023842:G:T p.(Ala176Ser) NC_000017.11:42023842:G:T p.(Ala176Ser) NC_000017.11:42023842:G:T Identity +NM_001385683.1:c.1604A>C NP_001372612.1:p.Tyr535Ser NC_000003.12:45759914:T:G p.(Tyr535Ser) NC_000003.12:45759914:T:G p.(Tyr535Ser) NC_000003.12:45759914:T:G Identity +NM_001008496.3:c.2491C>T NP_001008496.2:p.Arg831Cys NC_000022.11:24719788:G:A p.(Arg831Cys) NC_000022.11:24719788:G:A p.(Arg831Cys) NC_000022.11:24719788:G:A Identity +NM_001164386.2:c.3886C>G NP_001157858.1:p.Leu1296Val NC_000005.10:131433541:G:C p.(Leu1296Val) NC_000005.10:131433541:G:C p.(Leu1296Val) NC_000005.10:131433541:G:C Identity +NM_001156474.2:c.283A>G NP_001149946.1:p.Lys95Glu NC_000011.10:86387656:A:G p.(Lys95Glu) NC_000011.10:86387656:A:G p.(Lys95Glu) NC_000011.10:86387656:A:G Identity +NM_001286643.1:c.994G>A NP_001273572.1:p.Glu332Lys NC_000008.11:96243983:C:T p.(Glu332Lys) NC_000008.11:96243983:C:T p.(Glu332Lys) NC_000008.11:96243983:C:T Identity +NM_001317954.2:c.755G>C NP_001304883.1:p.Ser252Thr NC_000005.10:103096638:C:G p.(Ser252Thr) NC_000005.10:103096638:C:G p.(Ser252Thr) NC_000005.10:103096638:C:G Identity +NM_001322854.2:c.380C>T NP_001309783.1:p.Pro127Leu NC_000001.11:24445229:C:T p.(Pro127Leu) NC_000001.11:24445229:C:T p.(Pro127Leu) NC_000001.11:24445229:C:T Identity +NM_001384609.1:c.19C>T NP_001371538.1:p.Pro7Ser NC_000013.11:87675406:C:T p.(Pro7Ser) NC_000013.11:87675406:C:T p.(Pro7Ser) NC_000013.11:87675406:C:T Identity +NM_001013838.3:c.3550G>C NP_001013860.1:p.Glu1184Gln NC_000016.10:67654659:G:C p.(Glu1184Gln) NC_000016.10:67654659:G:C p.(Glu1184Gln) NC_000016.10:67654659:G:C Identity +NM_001323640.2:c.1672C>G NP_001310569.1:p.Pro558Ala NC_000015.10:45415613:C:G p.(Pro558Ala) NC_000015.10:45415613:C:G p.(Pro558Ala) NC_000015.10:45415613:C:G Identity +NM_001048205.2:c.172C>A NP_001041670.1:p.Pro58Thr NC_000014.9:24172944:C:A p.(Pro58Thr) NC_000014.9:24172944:C:A p.(Pro58Thr) NC_000014.9:24172944:C:A Identity +NM_001256725.2:c.1670A>G NP_001243654.1:p.Asn557Ser NC_000002.12:85648779:A:G p.(Asn557Ser) NC_000002.12:85648779:A:G p.(Asn557Ser) NC_000002.12:85648779:A:G Identity +NM_001394687.1:c.411T>G NP_001381616.1:p.Ile137Met NC_000012.12:55828247:A:C p.(Ile137Met) NC_000012.12:55828247:A:C p.(Ile137Met) NC_000012.12:55828247:A:C Identity +NM_001410842.1:c.2216G>A NP_001397771.1:p.Arg739His NC_000004.12:139384894:G:A p.(Arg739His) NC_000004.12:139384894:G:A p.(Arg739His) NC_000004.12:139384894:G:A Identity +NM_001368395.3:c.1847C>A NP_001355324.1:p.Thr616Lys NC_000023.11:12716194:C:A p.(Thr616Lys) NC_000023.11:12716194:C:A p.(Thr616Lys) NC_000023.11:12716194:C:A Identity +NM_001318336.2:c.1379C>T NP_001305265.1:p.Thr460Ile NC_000010.11:13670448:G:A p.(Thr460Ile) NC_000010.11:13670448:G:A p.(Thr460Ile) NC_000010.11:13670448:G:A Identity +NM_001130103.2:c.1544G>T NP_001123575.1:p.Gly515Val NC_000010.11:69930445:G:T p.(Gly515Val) NC_000010.11:69930445:G:T p.(Gly515Val) NC_000010.11:69930445:G:T Identity +NM_001307944.1:c.25G>C NP_001294873.1:p.Asp9His NC_000023.11:75274278:G:C p.(Asp9His) NC_000023.11:75274278:G:C p.(Asp9His) NC_000023.11:75274278:G:C Identity +NM_007186.6:c.55G>C NP_009117.2:p.Val19Leu NC_000020.11:35462421:G:C p.(Val19Leu) NC_000020.11:35462421:G:C p.(Val19Leu) NC_000020.11:35462421:G:C Identity +NM_001076677.3:c.152C>T NP_001070145.1:p.Ala51Val NC_000009.12:36191207:C:T p.(Ala51Val) NC_000009.12:36191207:C:T p.(Ala51Val) NC_000009.12:36191207:C:T Identity +NM_175885.4:c.121G>C NP_787081.2:p.Asp41His NC_000011.10:82733608:C:G p.(Asp41His) NC_000011.10:82733608:C:G p.(Asp41His) NC_000011.10:82733608:C:G Identity +NM_001145346.2:c.1963G>T NP_001138818.1:p.Asp655Tyr NC_000023.11:115191403:G:T p.(Asp655Tyr) NC_000023.11:115191403:G:T p.(Asp655Tyr) NC_000023.11:115191403:G:T Identity +NM_001303433.2:c.1544C>G NP_001290362.1:p.Pro515Arg NC_000001.11:77960358:G:C p.(Pro515Arg) NC_000001.11:77960358:G:C p.(Pro515Arg) NC_000001.11:77960358:G:C Identity +NM_001077498.3:c.247A>G NP_001070966.1:p.Thr83Ala NC_000017.11:28759711:T:C p.(Thr83Ala) NC_000017.11:28759711:T:C p.(Thr83Ala) NC_000017.11:28759711:T:C Identity +NM_001004301.4:c.560A>G NP_001004301.2:p.His187Arg NC_000019.10:53490791:A:G p.(His187Arg) NC_000019.10:53490791:A:G p.(His187Arg) NC_000019.10:53490791:A:G Identity +NM_001350630.2:c.511G>A NP_001337559.1:p.Val171Met NC_000001.11:223002636:G:A p.(Val171Met) NC_000001.11:223002636:G:A p.(Val171Met) NC_000001.11:223002636:G:A Identity +NM_019108.4:c.247A>G NP_061981.2:p.Thr83Ala NC_000019.10:43747875:T:C p.(Thr83Ala) NC_000019.10:43747875:T:C p.(Thr83Ala) NC_000019.10:43747875:T:C Identity +NM_001378092.1:c.140A>G NP_001365021.1:p.Lys47Arg NC_000011.10:70078622:A:G p.(Lys47Arg) NC_000011.10:70078622:A:G p.(Lys47Arg) NC_000011.10:70078622:A:G Identity +NM_003728.4:c.631G>C NP_003719.3:p.Val211Leu NC_000004.12:95250630:C:G p.(Val211Leu) NC_000004.12:95250630:C:G p.(Val211Leu) NC_000004.12:95250630:C:G Identity +NM_001199551.2:c.386C>T NP_001186480.1:p.Pro129Leu NC_000003.12:9870173:G:A p.(Pro129Leu) NC_000003.12:9870173:G:A p.(Pro129Leu) NC_000003.12:9870173:G:A Identity +NM_001184743.2:c.1831G>A NP_001171672.1:p.Ala611Thr NC_000006.12:28301684:G:A p.(Ala611Thr) NC_000006.12:28301684:G:A p.(Ala611Thr) NC_000006.12:28301684:G:A Identity +NM_001114395.3:c.235C>G NP_001107867.1:p.Leu79Val NC_000009.12:17135299:C:G p.(Leu79Val) NC_000009.12:17135299:C:G p.(Leu79Val) NC_000009.12:17135299:C:G Identity +NM_001135178.3:c.685G>T NP_001128650.1:p.Ala229Ser NC_000018.10:35245389:G:T p.(Ala229Ser) NC_000018.10:35245389:G:T p.(Ala229Ser) NC_000018.10:35245389:G:T Identity +NM_002016.2:c.11839C>A NP_002007.1:p.Arg3947Ser NC_000001.11:152303046:G:T p.(Arg3947Ser) NC_000001.11:152303046:G:T p.(Arg3947Ser) NC_000001.11:152303046:G:T Identity +NM_001256910.2:c.2028C>G NP_001243839.1:p.Phe676Leu NC_000010.11:68982691:C:G p.(Phe676Leu) NC_000010.11:68982691:C:G p.(Phe676Leu) NC_000010.11:68982691:C:G Identity +NM_014061.5:c.479A>C NP_054780.2:p.Glu160Ala NC_000023.11:55452852:A:C p.(Glu160Ala) NC_000023.11:55452852:A:C p.(Glu160Ala) NC_000023.11:55452852:A:C Identity +NM_001288990.3:c.946G>A NP_001275919.1:p.Glu316Lys NC_000016.10:67825797:G:A p.(Glu316Lys) NC_000016.10:67825797:G:A p.(Glu316Lys) NC_000016.10:67825797:G:A Identity +NM_018930.4:c.1921G>C NP_061753.1:p.Val641Leu NC_000005.10:141194472:G:C p.(Val641Leu) NC_000005.10:141194472:G:C p.(Val641Leu) NC_000005.10:141194472:G:C Identity +NM_001365029.1:c.2218G>A NP_001351958.1:p.Glu740Lys NC_000009.12:17394671:G:A p.(Glu740Lys) NC_000009.12:17394671:G:A p.(Glu740Lys) NC_000009.12:17394671:G:A Identity +NM_001199377.2:c.377G>T NP_001186306.1:p.Arg126Leu NC_000015.10:78194581:C:A p.(Arg126Leu) NC_000015.10:78194581:C:A p.(Arg126Leu) NC_000015.10:78194581:C:A Identity +NM_017957.3:c.1651C>G NP_060427.2:p.Gln551Glu NC_000017.11:50541908:C:G p.(Gln551Glu) NC_000017.11:50541908:C:G p.(Gln551Glu) NC_000017.11:50541908:C:G Identity +NM_016270.4:c.65G>C NP_057354.1:p.Gly22Ala NC_000019.10:16324987:G:C p.(Gly22Ala) NC_000019.10:16324987:G:C p.(Gly22Ala) NC_000019.10:16324987:G:C Identity +NM_001319238.2:c.1409A>G NP_001306167.1:p.His470Arg NC_000001.11:203847549:A:G p.(His470Arg) NC_000001.11:203847549:A:G p.(His470Arg) NC_000001.11:203847549:A:G Identity +NM_001013735.1:c.784T>A NP_001013757.1:p.Ser262Thr NC_000009.12:77020437:T:A p.(Ser262Thr) NC_000009.12:77020437:T:A p.(Ser262Thr) NC_000009.12:77020437:T:A Identity +NM_000412.5:c.1559C>T NP_000403.1:p.Thr520Ile NC_000003.12:186677863:C:T p.(Thr520Ile) NC_000003.12:186677863:C:T p.(Thr520Ile) NC_000003.12:186677863:C:T Identity +NM_001195728.3:c.600C>G NP_001182657.1:p.Ser200Arg NC_000011.10:35306176:G:C p.(Ser200Arg) NC_000011.10:35306176:G:C p.(Ser200Arg) NC_000011.10:35306176:G:C Identity +NM_005843.6:c.1453G>A NP_005834.4:p.Val485Met NC_000002.12:152120698:C:T p.(Val485Met) NC_000002.12:152120698:C:T p.(Val485Met) NC_000002.12:152120698:C:T Identity +NM_015421.4:c.321T>A NP_056236.2:p.Ser107Arg NC_000016.10:8796272:A:T p.(Ser107Arg) NC_000016.10:8796272:A:T p.(Ser107Arg) NC_000016.10:8796272:A:T Identity +NM_000379.4:c.1775T>G NP_000370.2:p.Val592Gly NC_000002.12:31372308:A:C p.(Val592Gly) NC_000002.12:31372308:A:C p.(Val592Gly) NC_000002.12:31372308:A:C Identity +NM_001350929.2:c.14277G>C NP_001337858.1:p.Gln4759His NC_000014.9:104940873:C:G p.(Gln4759His) NC_000014.9:104940873:C:G p.(Gln4759His) NC_000014.9:104940873:C:G Identity +NM_175875.5:c.1617C>A NP_787071.3:p.Phe539Leu NC_000019.10:45766103:G:T p.(Phe539Leu) NC_000019.10:45766103:G:T p.(Phe539Leu) NC_000019.10:45766103:G:T Identity +NM_002062.5:c.1261C>T NP_002053.3:p.Arg421Trp NC_000006.12:39085941:C:T p.(Arg421Trp) NC_000006.12:39085941:C:T p.(Arg421Trp) NC_000006.12:39085941:C:T Identity +NM_001101648.2:c.3933T>G NP_001095118.1:p.Phe1311Leu NC_000007.14:44513512:A:C p.(Phe1311Leu) NC_000007.14:44513512:A:C p.(Phe1311Leu) NC_000007.14:44513512:A:C Identity +NM_007037.6:c.1345G>A NP_008968.4:p.Asp449Asn NC_000011.10:130414751:C:T p.(Asp449Asn) NC_000011.10:130414751:C:T p.(Asp449Asn) NC_000011.10:130414751:C:T Identity +NM_022346.5:c.1589A>G NP_071741.2:p.Asp530Gly NC_000004.12:17825496:A:G p.(Asp530Gly) NC_000004.12:17825496:A:G p.(Asp530Gly) NC_000004.12:17825496:A:G Identity +NM_004699.4:c.391G>A NP_004690.1:p.Gly131Ser NC_000023.11:154446508:G:A p.(Gly131Ser) NC_000023.11:154446508:G:A p.(Gly131Ser) NC_000023.11:154446508:G:A Identity +NM_001007257.3:c.3898T>G NP_001007258.1:p.Ser1300Ala NC_000001.11:13782295:T:G p.(Ser1300Ala) NC_000001.11:13782295:T:G p.(Ser1300Ala) NC_000001.11:13782295:T:G Identity +NM_001111322.2:c.2456G>A NP_001104792.1:p.Arg819Gln NC_000012.12:113159069:C:T p.(Arg819Gln) NC_000012.12:113159069:C:T p.(Arg819Gln) NC_000012.12:113159069:C:T Identity +NM_001345975.2:c.2422G>C NP_001332904.1:p.Val808Leu NC_000005.10:113567156:G:C p.(Val808Leu) NC_000005.10:113567156:G:C p.(Val808Leu) NC_000005.10:113567156:G:C Identity +NM_001311160.2:c.106C>G NP_001298089.1:p.Leu36Val NC_000011.10:119420317:G:C p.(Leu36Val) NC_000011.10:119420317:G:C p.(Leu36Val) NC_000011.10:119420317:G:C Identity +NM_001165417.2:c.244A>T NP_001158889.1:p.Thr82Ser NC_000017.11:4938946:T:A p.(Thr82Ser) NC_000017.11:4938946:T:A p.(Thr82Ser) NC_000017.11:4938946:T:A Identity +NM_001261835.2:c.4922T>C NP_001248764.1:p.Met1641Thr NC_000017.11:58307671:A:G p.(Met1641Thr) NC_000017.11:58307671:A:G p.(Met1641Thr) NC_000017.11:58307671:A:G Identity +NM_022569.3:c.808C>T NP_072091.1:p.Leu270Phe NC_000004.12:115076228:G:A p.(Leu270Phe) NC_000004.12:115076228:G:A p.(Leu270Phe) NC_000004.12:115076228:G:A Identity +NM_001024858.4:c.4245T>A NP_001020029.1:p.Asn1415Lys NC_000014.9:64782310:A:T p.(Asn1415Lys) NC_000014.9:64782310:A:T p.(Asn1415Lys) NC_000014.9:64782310:A:T Identity +NM_001316345.2:c.1951G>A NP_001303274.1:p.Val651Met NC_000009.12:36118837:G:A p.(Val651Met) NC_000009.12:36118837:G:A p.(Val651Met) NC_000009.12:36118837:G:A Identity +NM_019841.7:c.458G>A NP_062815.3:p.Arg153His NC_000007.14:142929456:C:T p.(Arg153His) NC_000007.14:142929456:C:T p.(Arg153His) NC_000007.14:142929456:C:T Identity +NM_001315501.2:c.526G>T NP_001302430.1:p.Ala176Ser NC_000011.10:2909223:G:T p.(Ala176Ser) NC_000011.10:2909223:G:T p.(Ala176Ser) NC_000011.10:2909223:G:T Identity +NM_001370532.1:c.274G>T NP_001357461.1:p.Ala92Ser NC_000009.12:1056382:G:T p.(Ala92Ser) NC_000009.12:1056382:G:T p.(Ala92Ser) NC_000009.12:1056382:G:T Identity +NM_001278284.2:c.643C>T NP_001265213.1:p.Leu215Phe NC_000007.14:100071840:G:A p.(Leu215Phe) NC_000007.14:100071840:G:A p.(Leu215Phe) NC_000007.14:100071840:G:A Identity +NM_001255978.2:c.166C>T NP_001242907.1:p.Arg56Cys NC_000001.11:153968690:C:T p.(Arg56Cys) NC_000001.11:153968690:C:T p.(Arg56Cys) NC_000001.11:153968690:C:T Identity +NM_001308047.2:c.6905G>A NP_001294976.1:p.Ser2302Asn NC_000009.12:76705368:C:T p.(Ser2302Asn) NC_000009.12:76705368:C:T p.(Ser2302Asn) NC_000009.12:76705368:C:T Identity +NM_018226.6:c.1018A>G NP_060696.4:p.Ile340Val NC_000002.12:240574191:A:G p.(Ile340Val) NC_000002.12:240574191:A:G p.(Ile340Val) NC_000002.12:240574191:A:G Identity +NM_018697.4:c.103G>C NP_061167.1:p.Ala35Pro NC_000007.14:55366127:G:C p.(Ala35Pro) NC_000007.14:55366127:G:C p.(Ala35Pro) NC_000007.14:55366127:G:C Identity +NM_015311.3:c.4838C>T NP_056126.1:p.Ala1613Val NC_000002.12:219554511:G:A p.(Ala1613Val) NC_000002.12:219554511:G:A p.(Ala1613Val) NC_000002.12:219554511:G:A Identity +NM_018663.3:c.172A>G NP_061133.1:p.Lys58Glu NC_000012.12:132690311:A:G p.(Lys58Glu) NC_000012.12:132690311:A:G p.(Lys58Glu) NC_000012.12:132690311:A:G Identity +NM_001242559.2:c.2285C>T NP_001229488.1:p.Thr762Met NC_000002.12:101869685:C:T p.(Thr762Met) NC_000002.12:101869685:C:T p.(Thr762Met) NC_000002.12:101869685:C:T Identity +NM_001278000.3:c.404A>T NP_001264929.1:p.Asp135Val NC_000023.11:78755272:A:T p.(Asp135Val) NC_000023.11:78755272:A:T p.(Asp135Val) NC_000023.11:78755272:A:T Identity +NM_004623.5:c.683C>T NP_004614.3:p.Ala228Val NC_000001.11:54731486:C:T p.(Ala228Val) NC_000001.11:54731486:C:T p.(Ala228Val) NC_000001.11:54731486:C:T Identity +NM_002114.4:c.7864G>C NP_002105.3:p.Gly2622Arg NC_000006.12:12164167:G:C p.(Gly2622Arg) NC_000006.12:12164167:G:C p.(Gly2622Arg) NC_000006.12:12164167:G:C Identity +NM_020959.3:c.1711G>A NP_066010.1:p.Gly571Arg NC_000019.10:17328676:C:T p.(Gly571Arg) NC_000019.10:17328676:C:T p.(Gly571Arg) NC_000019.10:17328676:C:T Identity +NM_001378328.1:c.7555G>A NP_001365257.1:p.Val2519Met NC_000022.11:46377089:C:T p.(Val2519Met) NC_000022.11:46377089:C:T p.(Val2519Met) NC_000022.11:46377089:C:T Identity +NM_130770.3:c.503A>G NP_570126.2:p.Tyr168Cys NC_000003.12:184056987:A:G p.(Tyr168Cys) NC_000003.12:184056987:A:G p.(Tyr168Cys) NC_000003.12:184056987:A:G Identity +NM_001041.4:c.5066A>G NP_001032.2:p.His1689Arg NC_000003.12:164991394:T:C p.(His1689Arg) NC_000003.12:164991394:T:C p.(His1689Arg) NC_000003.12:164991394:T:C Identity +NM_001308056.2:c.227G>A NP_001294985.1:p.Arg76His NC_000005.10:111502016:C:T p.(Arg76His) NC_000005.10:111502016:C:T p.(Arg76His) NC_000005.10:111502016:C:T Identity +NM_181787.3:c.1769C>T NP_861452.2:p.Ala590Val NC_000008.11:94783722:C:T p.(Ala590Val) NC_000008.11:94783722:C:T p.(Ala590Val) NC_000008.11:94783722:C:T Identity +NM_001142936.2:c.386T>G NP_001136408.1:p.Val129Gly NC_000007.14:6436394:A:C p.(Val129Gly) NC_000007.14:6436394:A:C p.(Val129Gly) NC_000007.14:6436394:A:C Identity +NM_001010848.4:c.661A>G NP_001010848.2:p.Met221Val NC_000010.11:81876000:A:G p.(Met221Val) NC_000010.11:81876000:A:G p.(Met221Val) NC_000010.11:81876000:A:G Identity +NM_133464.5:c.1273G>A NP_597721.2:p.Ala425Thr NC_000009.12:111542207:G:A p.(Ala425Thr) NC_000009.12:111542207:G:A p.(Ala425Thr) NC_000009.12:111542207:G:A Identity +NM_006836.2:c.6481C>T NP_006827.1:p.Arg2161Cys NC_000012.12:120137726:G:A p.(Arg2161Cys) NC_000012.12:120137726:G:A p.(Arg2161Cys) NC_000012.12:120137726:G:A Identity +NM_020318.3:c.4969C>A NP_064714.2:p.Pro1657Thr NC_000001.11:176791430:C:A p.(Pro1657Thr) NC_000001.11:176791430:C:A p.(Pro1657Thr) NC_000001.11:176791430:C:A Identity +NM_018420.3:c.443T>C NP_060890.2:p.Leu148Pro NC_000001.11:116020729:T:C p.(Leu148Pro) NC_000001.11:116020729:T:C p.(Leu148Pro) NC_000001.11:116020729:T:C Identity +NM_080283.4:c.1606C>T NP_525022.2:p.Pro536Ser NC_000017.11:69028543:G:A p.(Pro536Ser) NC_000017.11:69028543:G:A p.(Pro536Ser) NC_000017.11:69028543:G:A Identity +NM_001002925.1:c.97C>T NP_001002925.1:p.Leu33Phe NC_000011.10:56642342:G:A p.(Leu33Phe) NC_000011.10:56642342:G:A p.(Leu33Phe) NC_000011.10:56642342:G:A Identity +NM_001282546.2:c.182A>G NP_001269475.1:p.Lys61Arg NC_000001.11:36358767:T:C p.(Lys61Arg) NC_000001.11:36358767:T:C p.(Lys61Arg) NC_000001.11:36358767:T:C Identity +NM_005066.3:c.524C>T NP_005057.1:p.Pro175Leu NC_000001.11:35192525:G:A p.(Pro175Leu) NC_000001.11:35192525:G:A p.(Pro175Leu) NC_000001.11:35192525:G:A Identity +NM_001320047.2:c.1104C>A NP_001306976.1:p.Ser368Arg NC_000001.11:169827816:C:A p.(Ser368Arg) NC_000001.11:169827816:C:A p.(Ser368Arg) NC_000001.11:169827816:C:A Identity +NM_001135186.2:c.1027G>A NP_001128658.2:p.Val343Ile NC_000017.11:49222658:G:A p.(Val343Ile) NC_000017.11:49222658:G:A p.(Val343Ile) NC_000017.11:49222658:G:A Identity +NM_001330261.2:c.2203G>C NP_001317190.1:p.Gly735Arg NC_000017.11:48059557:G:C p.(Gly735Arg) NC_000017.11:48059557:G:C p.(Gly735Arg) NC_000017.11:48059557:G:C Identity +NM_000466.3:c.429T>A NP_000457.1:p.Phe143Leu NC_000007.14:92518183:A:T p.(Phe143Leu) NC_000007.14:92518183:A:T p.(Phe143Leu) NC_000007.14:92518183:A:T Identity +NM_001080534.3:c.5663T>C NP_001074003.1:p.Val1888Ala NC_000015.10:54533032:T:C p.(Val1888Ala) NC_000015.10:54533032:T:C p.(Val1888Ala) NC_000015.10:54533032:T:C Identity +NM_001374321.1:c.518T>C NP_001361250.1:p.Ile173Thr NC_000008.11:100183984:T:C p.(Ile173Thr) NC_000008.11:100183984:T:C p.(Ile173Thr) NC_000008.11:100183984:T:C Identity +NM_001282913.2:c.551C>T NP_001269842.1:p.Ser184Leu NC_000003.12:44367686:C:T p.(Ser184Leu) NC_000003.12:44367686:C:T p.(Ser184Leu) NC_000003.12:44367686:C:T Identity +NM_001329650.2:c.14A>G NP_001316579.1:p.Gln5Arg NC_000010.11:37971708:T:C p.(Gln5Arg) NC_000010.11:37971708:T:C p.(Gln5Arg) NC_000010.11:37971708:T:C Identity +NM_001869.3:c.44A>G NP_001860.2:p.His15Arg NC_000007.14:130266924:A:G p.(His15Arg) NC_000007.14:130266924:A:G p.(His15Arg) NC_000007.14:130266924:A:G Identity +NM_031217.4:c.518A>G NP_112494.3:p.Asn173Ser NC_000011.10:28091478:T:C p.(Asn173Ser) NC_000011.10:28091478:T:C p.(Asn173Ser) NC_000011.10:28091478:T:C Identity +NM_001363764.2:c.1583C>T NP_001350693.1:p.Pro528Leu NC_000017.11:81229126:G:A p.(Pro528Leu) NC_000017.11:81229126:G:A p.(Pro528Leu) NC_000017.11:81229126:G:A Identity +NM_001136041.3:c.445A>G NP_001129513.1:p.Ile149Val NC_000003.12:13502928:A:G p.(Ile149Val) NC_000003.12:13502928:A:G p.(Ile149Val) NC_000003.12:13502928:A:G Identity +NM_178818.3:c.688C>A NP_848933.1:p.His230Asn NC_000016.10:66617293:G:T p.(His230Asn) NC_000016.10:66617293:G:T p.(His230Asn) NC_000016.10:66617293:G:T Identity +NM_001302961.2:c.221A>G NP_001289890.1:p.Asn74Ser NC_000019.10:50908464:T:C p.(Asn74Ser) NC_000019.10:50908464:T:C p.(Asn74Ser) NC_000019.10:50908464:T:C Identity +NM_001281731.2:c.108G>T NP_001268660.1:p.Lys36Asn NC_000012.12:50143972:C:A p.(Lys36Asn) NC_000012.12:50143972:C:A p.(Lys36Asn) NC_000012.12:50143972:C:A Identity +NM_001033553.3:c.134C>T NP_001028725.1:p.Ser45Phe NC_000017.11:20096784:C:T p.(Ser45Phe) NC_000017.11:20096784:C:T p.(Ser45Phe) NC_000017.11:20096784:C:T Identity +NM_000682.7:c.280C>G NP_000673.2:p.Leu94Val NC_000002.12:96115869:G:C p.(Leu94Val) NC_000002.12:96115869:G:C p.(Leu94Val) NC_000002.12:96115869:G:C Identity +NM_001297423.2:c.863G>A NP_001284352.1:p.Arg288His NC_000004.12:958089:G:A p.(Arg288His) NC_000004.12:958089:G:A p.(Arg288His) NC_000004.12:958089:G:A Identity +NM_001350630.2:c.2027C>G NP_001337559.1:p.Thr676Ser NC_000001.11:223004152:C:G p.(Thr676Ser) NC_000001.11:223004152:C:G p.(Thr676Ser) NC_000001.11:223004152:C:G Identity +NM_001031849.3:c.1076T>C NP_001027019.1:p.Ile359Thr NC_000003.12:187250264:A:G p.(Ile359Thr) NC_000003.12:187250264:A:G p.(Ile359Thr) NC_000003.12:187250264:A:G Identity +NM_001271834.2:c.265G>A NP_001258763.1:p.Gly89Ser NC_000003.12:158123935:G:A p.(Gly89Ser) NC_000003.12:158123935:G:A p.(Gly89Ser) NC_000003.12:158123935:G:A Identity +NM_133497.4:c.421G>A NP_598004.1:p.Asp141Asn NC_000009.12:2718159:G:A p.(Asp141Asn) NC_000009.12:2718159:G:A p.(Asp141Asn) NC_000009.12:2718159:G:A Identity +NM_012118.4:c.847G>A NP_036250.2:p.Ala283Thr NC_000004.12:139045024:G:A p.(Ala283Thr) NC_000004.12:139045024:G:A p.(Ala283Thr) NC_000004.12:139045024:G:A Identity +NM_001040108.2:c.4352A>C NP_001035197.1:p.Glu1451Ala NC_000014.9:75017091:T:G p.(Glu1451Ala) NC_000014.9:75017091:T:G p.(Glu1451Ala) NC_000014.9:75017091:T:G Identity +NM_001297624.2:c.478T>C NP_001284553.1:p.Tyr160His NC_000019.10:52321856:T:C p.(Tyr160His) NC_000019.10:52321856:T:C p.(Tyr160His) NC_000019.10:52321856:T:C Identity +NM_001447.3:c.10735T>G NP_001438.1:p.Ser3579Ala NC_000005.10:151521857:A:C p.(Ser3579Ala) NC_000005.10:151521857:A:C p.(Ser3579Ala) NC_000005.10:151521857:A:C Identity +NM_018718.3:c.883C>T NP_061188.1:p.Pro295Ser NC_000007.14:130400128:G:A p.(Pro295Ser) NC_000007.14:130400128:G:A p.(Pro295Ser) NC_000007.14:130400128:G:A Identity +NM_015043.4:c.1484T>C NP_055858.2:p.Met495Thr NC_000005.10:179879129:A:G p.(Met495Thr) NC_000005.10:179879129:A:G p.(Met495Thr) NC_000005.10:179879129:A:G Identity +NM_001301684.2:c.1102G>A NP_001288613.1:p.Ala368Thr NC_000002.12:158176609:C:T p.(Ala368Thr) NC_000002.12:158176609:C:T p.(Ala368Thr) NC_000002.12:158176609:C:T Identity +NM_001166105.3:c.743A>G NP_001159577.2:p.Gln248Arg NC_000017.11:37465460:A:G p.(Gln248Arg) NC_000017.11:37465460:A:G p.(Gln248Arg) NC_000017.11:37465460:A:G Identity +NM_172364.5:c.1475T>A NP_758952.4:p.Met492Lys NC_000012.12:1882876:A:T p.(Met492Lys) NC_000012.12:1882876:A:T p.(Met492Lys) NC_000012.12:1882876:A:T Identity +NM_001031850.4:c.350G>T NP_001027020.1:p.Gly117Val NC_000019.10:42916201:C:A p.(Gly117Val) NC_000019.10:42916201:C:A p.(Gly117Val) NC_000019.10:42916201:C:A Identity +NM_001172105.2:c.1340A>G NP_001165576.1:p.Asn447Ser NC_000003.12:113945443:A:G p.(Asn447Ser) NC_000003.12:113945443:A:G p.(Asn447Ser) NC_000003.12:113945443:A:G Identity +NM_001318399.1:c.165G>C NP_001305328.1:p.Arg55Ser NC_000011.10:47848255:C:G p.(Arg55Ser) NC_000011.10:47848255:C:G p.(Arg55Ser) NC_000011.10:47848255:C:G Identity +NM_001171506.2:c.14C>G NP_001164977.1:p.Ser5Cys NC_000002.12:46909157:G:C p.(Ser5Cys) NC_000002.12:46909157:G:C p.(Ser5Cys) NC_000002.12:46909157:G:C Identity +NM_001080463.2:c.11156G>A NP_001073932.1:p.Arg3719His NC_000011.10:103303131:G:A p.(Arg3719His) NC_000011.10:103303131:G:A p.(Arg3719His) NC_000011.10:103303131:G:A Identity +NM_153213.5:c.995G>T NP_694945.2:p.Arg332Leu NC_000001.11:16207089:C:A p.(Arg332Leu) NC_000001.11:16207089:C:A p.(Arg332Leu) NC_000001.11:16207089:C:A Identity +NM_001143957.3:c.1229A>G NP_001137429.1:p.Tyr410Cys NC_000006.12:96798502:T:C p.(Tyr410Cys) NC_000006.12:96798502:T:C p.(Tyr410Cys) NC_000006.12:96798502:T:C Identity +NM_019004.2:c.2372A>G NP_061877.1:p.Asp791Gly NC_000007.14:92396452:A:G p.(Asp791Gly) NC_000007.14:92396452:A:G p.(Asp791Gly) NC_000007.14:92396452:A:G Identity +NM_000246.4:c.3106G>A NP_000237.2:p.Ala1036Thr NC_000016.10:10918482:G:A p.(Ala1036Thr) NC_000016.10:10918482:G:A p.(Ala1036Thr) NC_000016.10:10918482:G:A Identity +NM_145807.4:c.1012G>A NP_665806.1:p.Ala338Thr NC_000019.10:48663772:C:T p.(Ala338Thr) NC_000019.10:48663772:C:T p.(Ala338Thr) NC_000019.10:48663772:C:T Identity +NM_052875.5:c.890A>G NP_443107.1:p.Asp297Gly NC_000011.10:134245468:A:G p.(Asp297Gly) NC_000011.10:134245468:A:G p.(Asp297Gly) NC_000011.10:134245468:A:G Identity +NM_001329533.2:c.977G>T NP_001316462.1:p.Arg326Leu NC_000019.10:1913071:G:T p.(Arg326Leu) NC_000019.10:1913071:G:T p.(Arg326Leu) NC_000019.10:1913071:G:T Identity +NM_001303139.2:c.221C>G NP_001290068.1:p.Pro74Arg NC_000003.12:73404186:G:C p.(Pro74Arg) NC_000003.12:73404186:G:C p.(Pro74Arg) NC_000003.12:73404186:G:C Identity +NM_174895.3:c.235G>A NP_777555.1:p.Asp79Asn NC_000019.10:7632448:C:T p.(Asp79Asn) NC_000019.10:7632448:C:T p.(Asp79Asn) NC_000019.10:7632448:C:T Identity +NM_001105528.4:c.2182G>A NP_001098998.1:p.Asp728Asn NC_000018.10:33211951:C:T p.(Asp728Asn) NC_000018.10:33211951:C:T p.(Asp728Asn) NC_000018.10:33211951:C:T Identity +NM_001005291.3:c.2412T>A NP_001005291.1:p.Asp804Glu NC_000017.11:17815920:A:T p.(Asp804Glu) NC_000017.11:17815920:A:T p.(Asp804Glu) NC_000017.11:17815920:A:T Identity +NM_000819.5:c.1649C>T NP_000810.1:p.Ala550Val NC_000021.9:33520416:G:A p.(Ala550Val) NC_000021.9:33520416:G:A p.(Ala550Val) NC_000021.9:33520416:G:A Identity +NM_001329988.1:c.1675C>T NP_001316917.1:p.Arg559Cys NC_000009.12:129070345:C:T ERR:Data provider error: ValueError: Transcript NM_001329988.1 not found ERR:Data provider error: ValueError: Transcript NM_001329988.1 not found ERR:AlignmentMapper(tx_ac=NM_001329988.1, alt_ac=NM_001329988.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001329988.1, alt_ac=NM_001329988.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001329988.1 not found +NM_018931.3:c.2162C>G NP_061754.1:p.Ser721Trp NC_000005.10:141201935:C:G p.(Ser721Trp) NC_000005.10:141201935:C:G p.(Ser721Trp) NC_000005.10:141201935:C:G Identity +NM_033214.3:c.205G>A NP_149991.2:p.Ala69Thr NC_000004.12:79407995:C:T p.(Ala69Thr) NC_000004.12:79407995:C:T p.(Ala69Thr) NC_000004.12:79407995:C:T Identity +NM_017442.4:c.816C>A NP_059138.1:p.Phe272Leu NC_000003.12:52223499:G:T p.(Phe272Leu) NC_000003.12:52223499:G:T p.(Phe272Leu) NC_000003.12:52223499:G:T Identity +NM_001145124.1:c.1282G>A NP_001138596.1:p.Val428Ile NC_000009.12:87921188:G:A p.(Val428Ile) NC_000009.12:87921188:G:A p.(Val428Ile) NC_000009.12:87921188:G:A Identity +NM_001319210.2:c.782G>A NP_001306139.1:p.Arg261Gln NC_000001.11:100462824:G:A p.(Arg261Gln) NC_000001.11:100462824:G:A p.(Arg261Gln) NC_000001.11:100462824:G:A Identity +NM_001142935.2:c.476T>C NP_001136407.1:p.Leu159Pro NC_000005.10:177307809:A:G p.(Leu159Pro) NC_000005.10:177307809:A:G p.(Leu159Pro) NC_000005.10:177307809:A:G Identity +NM_014586.2:c.224A>G NP_055401.1:p.Lys75Arg NC_000021.9:31873897:A:G p.(Lys75Arg) NC_000021.9:31873897:A:G p.(Lys75Arg) NC_000021.9:31873897:A:G Identity +NM_001145001.3:c.139A>T NP_001138473.1:p.Ser47Cys NC_000009.12:124302000:A:T p.(Ser47Cys) NC_000009.12:124302000:A:T p.(Ser47Cys) NC_000009.12:124302000:A:T Identity +NM_001318809.2:c.608A>G NP_001305738.1:p.Tyr203Cys NC_000006.12:13307656:T:C p.(Tyr203Cys) NC_000006.12:13307656:T:C p.(Tyr203Cys) NC_000006.12:13307656:T:C Identity +NM_001013650.2:c.626G>C NP_001013672.1:p.Arg209Pro NC_000003.12:139020035:C:G p.(Arg209Pro) NC_000003.12:139020035:C:G p.(Arg209Pro) NC_000003.12:139020035:C:G Identity +NM_144699.4:c.1160G>A NP_653300.2:p.Gly387Asp NC_000001.11:160166639:G:A p.(Gly387Asp) NC_000001.11:160166639:G:A p.(Gly387Asp) NC_000001.11:160166639:G:A Identity +NM_032582.4:c.1883C>T NP_115971.2:p.Pro628Leu NC_000017.11:60214758:G:A p.(Pro628Leu) NC_000017.11:60214758:G:A p.(Pro628Leu) NC_000017.11:60214758:G:A Identity +NM_152531.5:c.314T>C NP_689744.3:p.Phe105Ser NC_000003.12:195270744:A:G p.(Phe105Ser) NC_000003.12:195270744:A:G p.(Phe105Ser) NC_000003.12:195270744:A:G Identity +NM_015043.4:c.2927C>T NP_055858.2:p.Thr976Ile NC_000005.10:179865347:G:A p.(Thr976Ile) NC_000005.10:179865347:G:A p.(Thr976Ile) NC_000005.10:179865347:G:A Identity +NM_003108.4:c.589G>C NP_003099.1:p.Asp197His NC_000002.12:5693309:G:C p.(Asp197His) NC_000002.12:5693309:G:C p.(Asp197His) NC_000002.12:5693309:G:C Identity +NM_206996.4:c.131T>C NP_996879.1:p.Ile44Thr NC_000001.11:118151325:A:G p.(Ile44Thr) NC_000001.11:118151325:A:G p.(Ile44Thr) NC_000001.11:118151325:A:G Identity +NM_002288.6:c.280G>A NP_002279.2:p.Gly94Arg NC_000019.10:54508099:G:A p.(Gly94Arg) NC_000019.10:54508099:G:A p.(Gly94Arg) NC_000019.10:54508099:G:A Identity +NM_001363559.2:c.2078A>T NP_001350488.1:p.Gln693Leu NC_000011.10:66332465:T:A p.(Gln693Leu) NC_000011.10:66332465:T:A p.(Gln693Leu) NC_000011.10:66332465:T:A Identity +NM_001089.3:c.445G>A NP_001080.2:p.Ala149Thr NC_000016.10:2324405:C:T p.(Ala149Thr) NC_000016.10:2324405:C:T p.(Ala149Thr) NC_000016.10:2324405:C:T Identity +NM_014801.4:c.3316G>T NP_055616.3:p.Ala1106Ser NC_000001.11:233161320:C:A p.(Ala1106Ser) NC_000001.11:233161320:C:A p.(Ala1106Ser) NC_000001.11:233161320:C:A Identity +NM_002152.3:c.959G>A NP_002143.1:p.Arg320Lys NC_000019.10:49154278:C:T p.(Arg320Lys) NC_000019.10:49154278:C:T p.(Arg320Lys) NC_000019.10:49154278:C:T Identity +NM_001308160.2:c.3241C>G NP_001295089.1:p.Gln1081Glu NC_000014.9:71033443:C:G p.(Gln1081Glu) NC_000014.9:71033443:C:G p.(Gln1081Glu) NC_000014.9:71033443:C:G Identity +NM_014415.4:c.1380A>G NP_055230.2:p.Ile460Met NC_000003.12:101665206:T:C p.(Ile460Met) NC_000003.12:101665206:T:C p.(Ile460Met) NC_000003.12:101665206:T:C Identity +NM_001039763.4:c.923T>C NP_001034852.3:p.Leu308Ser NC_000005.10:110606266:A:G p.(Leu308Ser) NC_000005.10:110606266:A:G p.(Leu308Ser) NC_000005.10:110606266:A:G Identity +NM_018908.3:c.1697T>C NP_061731.1:p.Val566Ala NC_000005.10:140823471:T:C p.(Val566Ala) NC_000005.10:140823471:T:C p.(Val566Ala) NC_000005.10:140823471:T:C Identity +NM_001256685.2:c.150T>G NP_001243614.1:p.Asp50Glu NC_000009.12:36589540:T:G p.(Asp50Glu) NC_000009.12:36589540:T:G p.(Asp50Glu) NC_000009.12:36589540:T:G Identity +NM_001037872.3:c.2618G>A NP_001032961.1:p.Arg873Gln NC_000002.12:99406099:C:T p.(Arg873Gln) NC_000002.12:99406099:C:T p.(Arg873Gln) NC_000002.12:99406099:C:T Identity +NM_015512.5:c.7571A>G NP_056327.4:p.Asp2524Gly NC_000003.12:52380097:A:G p.(Asp2524Gly) NC_000003.12:52380097:A:G p.(Asp2524Gly) NC_000003.12:52380097:A:G Identity +NM_014845.6:c.604G>A NP_055660.1:p.Asp202Asn NC_000006.12:109735255:G:A p.(Asp202Asn) NC_000006.12:109735255:G:A p.(Asp202Asn) NC_000006.12:109735255:G:A Identity +NM_001310214.3:c.2300A>G NP_001297143.1:p.Gln767Arg NC_000005.10:23527387:A:G ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found +NM_001040429.3:c.565G>C NP_001035519.1:p.Gly189Arg NC_000013.11:57633110:G:C p.(Gly189Arg) NC_000013.11:57633110:G:C p.(Gly189Arg) NC_000013.11:57633110:G:C Identity +NM_001289111.2:c.106C>T NP_001276040.1:p.Arg36Trp NC_000006.12:110997242:C:T p.(Arg36Trp) NC_000006.12:110997242:C:T p.(Arg36Trp) NC_000006.12:110997242:C:T Identity +NM_004598.4:c.1241G>C NP_004589.1:p.Arg414Thr NC_000005.10:136978732:C:G p.(Arg414Thr) NC_000005.10:136978732:C:G p.(Arg414Thr) NC_000005.10:136978732:C:G Identity +NM_001176.4:c.527A>C NP_001167.2:p.Glu176Ala NC_000016.10:282662:A:C p.(Glu176Ala) NC_000016.10:282662:A:C p.(Glu176Ala) NC_000016.10:282662:A:C Identity +NM_024490.4:c.4093G>A NP_077816.1:p.Glu1365Lys NC_000015.10:25679747:C:T p.(Glu1365Lys) NC_000015.10:25679747:C:T p.(Glu1365Lys) NC_000015.10:25679747:C:T Identity +NM_198317.3:c.198C>G NP_938073.1:p.Ser66Arg NC_000001.11:961382:C:G p.(Ser66Arg) NC_000001.11:961382:C:G p.(Ser66Arg) NC_000001.11:961382:C:G Identity +NM_001318726.2:c.3778G>A NP_001305655.1:p.Ala1260Thr NC_000018.10:58984337:G:A p.(Ala1260Thr) NC_000018.10:58984337:G:A p.(Ala1260Thr) NC_000018.10:58984337:G:A Identity +NM_001350145.3:c.400T>C NP_001337074.2:p.Tyr134His NC_000001.11:61769297:T:C p.(Tyr134His) NC_000001.11:61769297:T:C p.(Tyr134His) NC_000001.11:61769297:T:C Identity +NM_001251904.2:c.103G>C NP_001238833.1:p.Asp35His NC_000012.12:105229174:C:G p.(Asp35His) NC_000012.12:105229174:C:G p.(Asp35His) NC_000012.12:105229174:C:G Identity +NM_001198934.2:c.1497C>G NP_001185863.1:p.Ile499Met NC_000006.12:43434736:C:G p.(Ile499Met) NC_000006.12:43434736:C:G p.(Ile499Met) NC_000006.12:43434736:C:G Identity +NM_020675.4:c.504C>A NP_065726.1:p.Ser168Arg NC_000002.12:168873630:G:T p.(Ser168Arg) NC_000002.12:168873630:G:T p.(Ser168Arg) NC_000002.12:168873630:G:T Identity +NM_001007155.1:c.887G>T NP_001007156.1:p.Ser296Ile NC_000015.10:88135918:C:A ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found +NM_001308112.2:c.491G>A NP_001295041.1:p.Arg164His NC_000014.9:44945479:C:T p.(Arg164His) NC_000014.9:44945479:C:T p.(Arg164His) NC_000014.9:44945479:C:T Identity +NM_020453.4:c.4177A>G NP_065186.3:p.Ile1393Val NC_000004.12:47591276:A:G p.(Ile1393Val) NC_000004.12:47591276:A:G p.(Ile1393Val) NC_000004.12:47591276:A:G Identity +NM_001163321.4:c.1358C>T NP_001156793.2:p.Pro453Leu NC_000023.11:49067471:C:T p.(Pro453Leu) NC_000023.11:49067471:C:T p.(Pro453Leu) NC_000023.11:49067471:C:T Identity +NM_000106.6:c.667G>T NP_000097.3:p.Val223Leu NC_000022.11:42128349:C:A p.(Val223Leu) NC_000022.11:42128349:C:A p.(Val223Leu) NC_000022.11:42128349:C:A Identity +NM_001329998.2:c.7197G>A NP_001316927.1:p.Met2399Ile NC_000003.12:36832385:C:T p.(Met2399Ile) NC_000003.12:36832385:C:T p.(Met2399Ile) NC_000003.12:36832385:C:T Identity +NM_001184771.2:c.96G>T NP_001171700.2:p.Glu32Asp NC_000023.11:88753509:G:T p.(Glu32Asp) NC_000023.11:88753509:G:T p.(Glu32Asp) NC_000023.11:88753509:G:T Identity +NM_014510.3:c.12340C>T NP_055325.2:p.Pro4114Ser NC_000007.14:82915645:G:A p.(Pro4114Ser) NC_000007.14:82915645:G:A p.(Pro4114Ser) NC_000007.14:82915645:G:A Identity +NM_030812.3:c.61G>A NP_110439.2:p.Gly21Ser NC_000001.11:17823068:G:A p.(Gly21Ser) NC_000001.11:17823068:G:A p.(Gly21Ser) NC_000001.11:17823068:G:A Identity +NM_001135597.2:c.3784G>C NP_001129069.1:p.Val1262Leu NC_000002.12:55316073:C:G p.(Val1262Leu) NC_000002.12:55316073:C:G p.(Val1262Leu) NC_000002.12:55316073:C:G Identity +NM_000072.3:c.580G>T NP_000063.2:p.Val194Phe NC_000007.14:80663139:G:T p.(Val194Phe) NC_000007.14:80663139:G:T p.(Val194Phe) NC_000007.14:80663139:G:T Identity +NM_001366028.2:c.3675G>C NP_001352957.1:p.Glu1225Asp NC_000003.12:57452953:C:G p.(Glu1225Asp) NC_000003.12:57452953:C:G p.(Glu1225Asp) NC_000003.12:57452953:C:G Identity +NM_001142885.2:c.636C>G NP_001136357.1:p.Asp212Glu NC_000015.10:51798207:C:G p.(Asp212Glu) NC_000015.10:51798207:C:G p.(Asp212Glu) NC_000015.10:51798207:C:G Identity +NM_014415.4:c.760G>A NP_055230.2:p.Ala254Thr NC_000003.12:101671147:C:T p.(Ala254Thr) NC_000003.12:101671147:C:T p.(Ala254Thr) NC_000003.12:101671147:C:T Identity +NM_005963.4:c.3397C>T NP_005954.3:p.Arg1133Trp NC_000017.11:10501450:G:A p.(Arg1133Trp) NC_000017.11:10501450:G:A p.(Arg1133Trp) NC_000017.11:10501450:G:A Identity +NM_001256910.2:c.818T>C NP_001243839.1:p.Val273Ala NC_000010.11:68967134:T:C p.(Val273Ala) NC_000010.11:68967134:T:C p.(Val273Ala) NC_000010.11:68967134:T:C Identity +NM_001258290.2:c.2047C>T NP_001245219.1:p.Arg683Trp NC_000016.10:31140596:G:A p.(Arg683Trp) NC_000016.10:31140596:G:A p.(Arg683Trp) NC_000016.10:31140596:G:A Identity +NM_005454.3:c.134G>A NP_005445.1:p.Gly45Asp NC_000009.12:14722538:C:T p.(Gly45Asp) NC_000009.12:14722538:C:T p.(Gly45Asp) NC_000009.12:14722538:C:T Identity +NM_001294335.2:c.1298C>T NP_001281264.1:p.Thr433Met NC_000001.11:31742171:G:A p.(Thr433Met) NC_000001.11:31742171:G:A p.(Thr433Met) NC_000001.11:31742171:G:A Identity +NM_001363136.1:c.296C>T NP_001350065.1:p.Ala99Val NC_000008.11:97644801:C:T p.(Ala99Val) NC_000008.11:97644801:C:T p.(Ala99Val) NC_000008.11:97644801:C:T Identity +NM_178564.4:c.1222A>G NP_848659.2:p.Lys408Glu NC_000008.11:143837079:T:C p.(Lys408Glu) NC_000008.11:143837079:T:C p.(Lys408Glu) NC_000008.11:143837079:T:C Identity +NM_024654.5:c.241G>T NP_078930.4:p.Ala81Ser NC_000001.11:6554261:C:A p.(Ala81Ser) NC_000001.11:6554261:C:A p.(Ala81Ser) NC_000001.11:6554261:C:A Identity +NM_003394.4:c.523C>G NP_003385.2:p.His175Asp NC_000012.12:48968133:G:C p.(His175Asp) NC_000012.12:48968133:G:C p.(His175Asp) NC_000012.12:48968133:G:C Identity +NM_152616.5:c.1610C>T NP_689829.3:p.Ser537Phe NC_000003.12:140688291:C:T p.(Ser537Phe) NC_000003.12:140688291:C:T p.(Ser537Phe) NC_000003.12:140688291:C:T Identity +NM_001007204.1:c.869T>G NP_001007205.1:p.Leu290Arg NC_000001.11:156873650:T:G ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_001330582.2:c.502T>C NP_001317511.1:p.Tyr168His NC_000008.11:95048519:T:C p.(Tyr168His) NC_000008.11:95048519:T:C p.(Tyr168His) NC_000008.11:95048519:T:C Identity +NM_024867.4:c.656A>C NP_079143.3:p.Lys219Thr NC_000005.10:35646736:A:C p.(Lys219Thr) NC_000005.10:35646736:A:C p.(Lys219Thr) NC_000005.10:35646736:A:C Identity +NM_001015882.3:c.793C>T NP_001015882.2:p.Arg265Trp NC_000009.12:111649755:C:T p.(Arg265Trp) NC_000009.12:111649755:C:T p.(Arg265Trp) NC_000009.12:111649755:C:T Identity +NM_001369.3:c.13625G>A NP_001360.1:p.Gly4542Asp NC_000005.10:13700737:C:T p.(Gly4542Asp) NC_000005.10:13700737:C:T p.(Gly4542Asp) NC_000005.10:13700737:C:T Identity +NM_139172.3:c.422C>T NP_631911.1:p.Thr141Met NC_000019.10:55378090:C:T p.(Thr141Met) NC_000019.10:55378090:C:T p.(Thr141Met) NC_000019.10:55378090:C:T Identity +NM_032151.5:c.233C>G NP_115527.3:p.Ser78Cys NC_000005.10:134959055:C:G p.(Ser78Cys) NC_000005.10:134959055:C:G p.(Ser78Cys) NC_000005.10:134959055:C:G Identity +NM_001323041.2:c.1726A>G NP_001309970.1:p.Lys576Glu NC_000001.11:113704742:T:C p.(Lys576Glu) NC_000001.11:113704742:T:C p.(Lys576Glu) NC_000001.11:113704742:T:C Identity +NM_080764.4:c.470G>A NP_542942.2:p.Ser157Asn NC_000022.11:22488928:C:T p.(Ser157Asn) NC_000022.11:22488928:C:T p.(Ser157Asn) NC_000022.11:22488928:C:T Identity +NM_152230.5:c.95C>A NP_689416.1:p.Thr32Asn NC_000010.11:58267516:G:T p.(Thr32Asn) NC_000010.11:58267516:G:T p.(Thr32Asn) NC_000010.11:58267516:G:T Identity +NM_001136486.2:c.1052A>G NP_001129958.1:p.Asn351Ser NC_000011.10:89973590:A:G p.(Asn351Ser) NC_000011.10:89973590:A:G p.(Asn351Ser) NC_000011.10:89973590:A:G Identity +NM_000433.4:c.345G>C NP_000424.2:p.Gln115His NC_000001.11:183577619:C:G p.(Gln115His) NC_000001.11:183577619:C:G p.(Gln115His) NC_000001.11:183577619:C:G Identity +NM_001408.3:c.3047G>T NP_001399.1:p.Arg1016Leu NC_000001.11:109253125:G:T p.(Arg1016Leu) NC_000001.11:109253125:G:T p.(Arg1016Leu) NC_000001.11:109253125:G:T Identity +NM_001256121.2:c.302C>T NP_001243050.1:p.Ser101Leu NC_000001.11:32826400:C:T p.(Ser101Leu) NC_000001.11:32826400:C:T p.(Ser101Leu) NC_000001.11:32826400:C:T Identity +NM_001411101.1:c.2318G>A NP_001398030.1:p.Arg773Gln NC_000017.11:82925046:G:A p.(Arg773Gln) NC_000017.11:82925046:G:A p.(Arg773Gln) NC_000017.11:82925046:G:A Identity +NM_004401.3:c.529C>G NP_004392.1:p.Gln177Glu NC_000001.11:10463532:G:C p.(Gln177Glu) NC_000001.11:10463532:G:C p.(Gln177Glu) NC_000001.11:10463532:G:C Identity +NM_001303137.2:c.688G>A NP_001290066.1:p.Glu230Lys NC_000013.11:24321453:G:A p.(Glu230Lys) NC_000013.11:24321453:G:A p.(Glu230Lys) NC_000013.11:24321453:G:A Identity +NM_145270.3:c.517G>A NP_660313.1:p.Val173Met NC_000016.10:563810:G:A p.(Val173Met) NC_000016.10:563810:G:A p.(Val173Met) NC_000016.10:563810:G:A Identity +NM_005577.4:c.3488C>T NP_005568.2:p.Pro1163Leu NC_000006.12:160594098:G:A p.(Pro1163Leu) NC_000006.12:160594098:G:A p.(Pro1163Leu) NC_000006.12:160594098:G:A Identity +NM_001378418.1:c.4129G>A NP_001365347.1:p.Gly1377Arg NC_000022.11:42211176:C:T p.(Gly1377Arg) NC_000022.11:42211176:C:T p.(Gly1377Arg) NC_000022.11:42211176:C:T Identity +NM_002904.6:c.646C>T NP_002895.3:p.Arg216Trp NC_000006.12:31954650:G:A p.(Arg216Trp) NC_000006.12:31954650:G:A p.(Arg216Trp) NC_000006.12:31954650:G:A Identity +NM_145886.4:c.2226G>T NP_665893.2:p.Arg742Ser NC_000011.10:800178:C:A p.(Arg742Ser) NC_000011.10:800178:C:A p.(Arg742Ser) NC_000011.10:800178:C:A Identity +NM_001037814.1:c.1111G>T NP_001032903.1:p.Ala371Ser NC_000022.11:16966276:C:A p.(Ala371Ser) NC_000022.11:16966276:C:A p.(Ala371Ser) NC_000022.11:16966276:C:A Identity +NM_000210.4:c.2224C>T NP_000201.2:p.Pro742Ser NC_000002.12:172487609:C:T p.(Pro742Ser) NC_000002.12:172487609:C:T p.(Pro742Ser) NC_000002.12:172487609:C:T Identity +NM_006500.3:c.391C>T NP_006491.2:p.Arg131Cys NC_000011.10:119314841:G:A p.(Arg131Cys) NC_000011.10:119314841:G:A p.(Arg131Cys) NC_000011.10:119314841:G:A Identity +NM_001145053.2:c.1909A>G NP_001138525.2:p.Ile637Val NC_000017.11:30054030:A:G p.(Ile637Val) NC_000017.11:30054030:A:G p.(Ile637Val) NC_000017.11:30054030:A:G Identity +NM_001378125.1:c.6977G>A NP_001365054.1:p.Arg2326His NC_000002.12:32477494:G:A p.(Arg2326His) NC_000002.12:32477494:G:A p.(Arg2326His) NC_000002.12:32477494:G:A Identity +NM_001416100.1:c.2462G>A NP_001403029.1:p.Gly821Asp NC_000019.10:42401830:C:T p.(Gly821Asp) NC_000019.10:42401830:C:T p.(Gly821Asp) NC_000019.10:42401830:C:T Identity +NM_001371223.1:c.2705T>C NP_001358152.1:p.Leu902Ser NC_000009.12:37744736:T:C p.(Leu902Ser) NC_000009.12:37744736:T:C p.(Leu902Ser) NC_000009.12:37744736:T:C Identity +NM_001287049.2:c.82G>C NP_001273978.1:p.Val28Leu NC_000009.12:18941780:C:G p.(Val28Leu) NC_000009.12:18941780:C:G p.(Val28Leu) NC_000009.12:18941780:C:G Identity +NM_001008783.3:c.364G>C NP_001008783.1:p.Val122Leu NC_000006.12:136922791:G:C p.(Val122Leu) NC_000006.12:136922791:G:C p.(Val122Leu) NC_000006.12:136922791:G:C Identity +NM_007344.4:c.1065T>G NP_031370.2:p.Ser355Arg NC_000009.12:132401756:A:C p.(Ser355Arg) NC_000009.12:132401756:A:C p.(Ser355Arg) NC_000009.12:132401756:A:C Identity +NM_001310121.1:c.2610C>A NP_001297050.1:p.His870Gln NC_000012.12:111457324:G:T p.(His870Gln) NC_000012.12:111457324:G:T p.(His870Gln) NC_000012.12:111457324:G:T Identity +NM_001172674.2:c.1141A>C NP_001166145.1:p.Lys381Gln NC_000019.10:53141689:T:G p.(Lys381Gln) NC_000019.10:53141689:T:G p.(Lys381Gln) NC_000019.10:53141689:T:G Identity +NM_001144763.2:c.4535G>C NP_001138235.1:p.Arg1512Thr NC_000011.10:108510743:C:G p.(Arg1512Thr) NC_000011.10:108510743:C:G p.(Arg1512Thr) NC_000011.10:108510743:C:G Identity +NM_001130860.6:c.2288A>G NP_001124332.2:p.Asp763Gly NC_000023.11:66203573:A:G p.(Asp763Gly) NC_000023.11:66203573:A:G p.(Asp763Gly) NC_000023.11:66203573:A:G Identity +NM_020733.2:c.2500A>G NP_065784.1:p.Asn834Asp NC_000003.12:125013078:T:C p.(Asn834Asp) NC_000003.12:125013078:T:C p.(Asn834Asp) NC_000003.12:125013078:T:C Identity +NM_001363349.1:c.3830G>A NP_001350278.1:p.Gly1277Asp NC_000007.14:117728259:C:T p.(Gly1277Asp) NC_000007.14:117728259:C:T p.(Gly1277Asp) NC_000007.14:117728259:C:T Identity +NM_001024843.2:c.1001G>A NP_001020014.1:p.Ser334Asn NC_000022.11:40278023:G:A p.(Ser334Asn) NC_000022.11:40278023:G:A p.(Ser334Asn) NC_000022.11:40278023:G:A Identity +NM_001284263.2:c.503A>G NP_001271192.1:p.Lys168Arg NC_000022.11:28783599:A:G p.(Lys168Arg) NC_000022.11:28783599:A:G p.(Lys168Arg) NC_000022.11:28783599:A:G Identity +NM_182699.4:c.1241T>C NP_874358.2:p.Val414Ala NC_000023.11:23001297:T:C p.(Val414Ala) NC_000023.11:23001297:T:C p.(Val414Ala) NC_000023.11:23001297:T:C Identity +NM_001099658.2:c.328A>G NP_001093128.1:p.Ile110Val NC_000007.14:111123099:A:G p.(Ile110Val) NC_000007.14:111123099:A:G p.(Ile110Val) NC_000007.14:111123099:A:G Identity +NM_207411.5:c.338G>A NP_997294.3:p.Arg113Gln NC_000008.11:6825253:C:T p.(Arg113Gln) NC_000008.11:6825253:C:T p.(Arg113Gln) NC_000008.11:6825253:C:T Identity +NM_001127892.2:c.1895C>A NP_001121364.1:p.Thr632Asn NC_000016.10:51140035:G:T p.(Thr632Asn) NC_000016.10:51140035:G:T p.(Thr632Asn) NC_000016.10:51140035:G:T Identity +NM_001014972.3:c.3814T>A NP_001014972.1:p.Ser1272Thr NC_000002.12:71423327:T:A p.(Ser1272Thr) NC_000002.12:71423327:T:A p.(Ser1272Thr) NC_000002.12:71423327:T:A Identity +NM_001165960.1:c.1849A>C NP_001159432.1:p.Thr617Pro NC_000017.11:8109282:T:G p.(Thr617Pro) NC_000017.11:8109282:T:G p.(Thr617Pro) NC_000017.11:8109282:T:G Identity +NM_001008781.3:c.8125A>G NP_001008781.2:p.Thr2709Ala NC_000011.10:92801137:A:G p.(Thr2709Ala) NC_000011.10:92801137:A:G p.(Thr2709Ala) NC_000011.10:92801137:A:G Identity +NM_021160.3:c.71G>C NP_066983.1:p.Arg24Thr NC_000006.12:31703210:C:G p.(Arg24Thr) NC_000006.12:31703210:C:G p.(Arg24Thr) NC_000006.12:31703210:C:G Identity +NM_020393.4:c.56C>T NP_065126.2:p.Ser19Phe NC_000001.11:153346184:G:A p.(Ser19Phe) NC_000001.11:153346184:G:A p.(Ser19Phe) NC_000001.11:153346184:G:A Identity +NM_001323505.2:c.2882C>T NP_001310434.1:p.Thr961Ile NC_000005.10:38933385:C:T p.(Thr961Ile) NC_000005.10:38933385:C:T p.(Thr961Ile) NC_000005.10:38933385:C:T Identity +NM_001011649.3:c.343C>T NP_001011649.1:p.Arg115Trp NC_000009.12:120545753:G:A p.(Arg115Trp) NC_000009.12:120545753:G:A p.(Arg115Trp) NC_000009.12:120545753:G:A Identity +NM_001053.4:c.133G>A NP_001044.1:p.Val45Met NC_000016.10:1079000:G:A p.(Val45Met) NC_000016.10:1079000:G:A p.(Val45Met) NC_000016.10:1079000:G:A Identity +NM_001276252.2:c.1576T>C NP_001263181.1:p.Tyr526His NC_000001.11:27303727:T:C p.(Tyr526His) NC_000001.11:27303727:T:C p.(Tyr526His) NC_000001.11:27303727:T:C Identity +NM_001079669.4:c.1178T>C NP_001073137.1:p.Ile393Thr NC_000013.11:100635162:A:G p.(Ile393Thr) NC_000013.11:100635162:A:G p.(Ile393Thr) NC_000013.11:100635162:A:G Identity +NM_014153.4:c.719T>C NP_054872.2:p.Met240Thr NC_000016.10:11774419:A:G p.(Met240Thr) NC_000016.10:11774419:A:G p.(Met240Thr) NC_000016.10:11774419:A:G Identity +NM_023945.3:c.424G>A NP_076434.2:p.Asp142Asn NC_000011.10:60433848:G:A p.(Asp142Asn) NC_000011.10:60433848:G:A p.(Asp142Asn) NC_000011.10:60433848:G:A Identity +NM_001185085.2:c.1616G>A NP_001172014.1:p.Cys539Tyr NC_000013.11:24698742:G:A p.(Cys539Tyr) NC_000013.11:24698742:G:A p.(Cys539Tyr) NC_000013.11:24698742:G:A Identity +NM_153006.3:c.1225G>C NP_694551.1:p.Ala409Pro NC_000017.11:44007450:G:C p.(Ala409Pro) NC_000017.11:44007450:G:C p.(Ala409Pro) NC_000017.11:44007450:G:C Identity +NM_002224.4:c.2752C>G NP_002215.2:p.Gln918Glu NC_000006.12:33672051:C:G p.(Gln918Glu) NC_000006.12:33672051:C:G p.(Gln918Glu) NC_000006.12:33672051:C:G Identity +NM_001077525.3:c.10G>A NP_001070993.1:p.Ala4Thr NC_000003.12:9649592:G:A p.(Ala4Thr) NC_000003.12:9649592:G:A p.(Ala4Thr) NC_000003.12:9649592:G:A Identity +NM_001195214.2:c.412T>C NP_001182143.1:p.Phe138Leu NC_000023.11:68522865:T:C p.(Phe138Leu) NC_000023.11:68522865:T:C p.(Phe138Leu) NC_000023.11:68522865:T:C Identity +NM_080821.3:c.146G>A NP_543011.2:p.Arg49Gln NC_000020.11:56359150:G:A p.(Arg49Gln) NC_000020.11:56359150:G:A p.(Arg49Gln) NC_000020.11:56359150:G:A Identity +NM_001040275.1:c.904G>T NP_001035365.1:p.Ala302Ser NC_000014.9:64260496:C:A p.(Ala302Ser) NC_000014.9:64260496:C:A p.(Ala302Ser) NC_000014.9:64260496:C:A Identity +NM_001129765.2:c.207C>G NP_001123237.1:p.Ile69Met NC_000023.11:152850362:C:G p.(Ile69Met) NC_000023.11:152850362:C:G p.(Ile69Met) NC_000023.11:152850362:C:G Identity +NM_001122819.3:c.184C>T NP_001116291.1:p.His62Tyr NC_000001.11:20717522:G:A p.(His62Tyr) NC_000001.11:20717522:G:A p.(His62Tyr) NC_000001.11:20717522:G:A Identity +NM_001105077.4:c.1290C>A NP_001098547.3:p.Asp430Glu NC_000003.12:169116212:G:T p.(Asp430Glu) NC_000003.12:169116212:G:T p.(Asp430Glu) NC_000003.12:169116212:G:T Identity +NM_001362797.2:c.1358A>G NP_001349726.1:p.His453Arg NC_000008.11:122952867:A:G p.(His453Arg) NC_000008.11:122952867:A:G p.(His453Arg) NC_000008.11:122952867:A:G Identity +NM_001100397.2:c.1240C>G NP_001093867.1:p.Pro414Ala NC_000002.12:173014476:C:G p.(Pro414Ala) NC_000002.12:173014476:C:G p.(Pro414Ala) NC_000002.12:173014476:C:G Identity +NM_001406365.1:c.5801G>A NP_001393294.1:p.Gly1934Asp NC_000010.11:68691116:G:A p.(Gly1934Asp) NC_000010.11:68691116:G:A p.(Gly1934Asp) NC_000010.11:68691116:G:A Identity +NM_139075.4:c.1253A>G NP_620714.2:p.Gln418Arg NC_000011.10:69078503:A:G p.(Gln418Arg) NC_000011.10:69078503:A:G p.(Gln418Arg) NC_000011.10:69078503:A:G Identity +NM_001394828.1:c.871T>G NP_001381757.1:p.Tyr291Asp NC_000006.12:29426770:A:C p.(Tyr291Asp) NC_000006.12:29426770:A:C p.(Tyr291Asp) NC_000006.12:29426770:A:C Identity +NM_017429.3:c.1619A>C NP_059125.2:p.Asp540Ala NC_000016.10:81290551:A:C p.(Asp540Ala) NC_000016.10:81290551:A:C p.(Asp540Ala) NC_000016.10:81290551:A:C Identity +NM_001271581.3:c.611T>A NP_001258510.1:p.Leu204His NC_000002.12:182728971:T:A p.(Leu204His) NC_000002.12:182728971:T:A p.(Leu204His) NC_000002.12:182728971:T:A Identity +NM_001031743.3:c.1509C>A NP_001026913.1:p.Asp503Glu NC_000006.12:87461035:C:A p.(Asp503Glu) NC_000006.12:87461035:C:A p.(Asp503Glu) NC_000006.12:87461035:C:A Identity +NM_001282902.3:c.3338A>T NP_001269831.1:p.Asp1113Val NC_000008.11:115414542:T:A p.(Asp1113Val) NC_000008.11:115414542:T:A p.(Asp1113Val) NC_000008.11:115414542:T:A Identity +NM_001160184.2:c.581G>T NP_001153656.1:p.Gly194Val NC_000001.11:970974:G:T p.(Gly194Val) NC_000001.11:970974:G:T p.(Gly194Val) NC_000001.11:970974:G:T Identity +NM_053006.5:c.924C>A NP_443732.3:p.Asp308Glu NC_000022.11:19132322:C:A p.(Asp308Glu) NC_000022.11:19132322:C:A p.(Asp308Glu) NC_000022.11:19132322:C:A Identity +NM_002257.4:c.286T>C NP_002248.1:p.Phe96Leu NC_000019.10:50820363:A:G p.(Phe96Leu) NC_000019.10:50820363:A:G p.(Phe96Leu) NC_000019.10:50820363:A:G Identity +NM_001163646.2:c.193G>A NP_001157118.1:p.Val65Ile NC_000003.12:184033022:G:A p.(Val65Ile) NC_000003.12:184033022:G:A p.(Val65Ile) NC_000003.12:184033022:G:A Identity +NM_013448.3:c.2653C>G NP_038476.2:p.Pro885Ala NC_000014.9:34776098:G:C p.(Pro885Ala) NC_000014.9:34776098:G:C p.(Pro885Ala) NC_000014.9:34776098:G:C Identity +NM_001363692.2:c.1404C>G NP_001350621.1:p.Ser468Arg NC_000014.9:95449975:G:C p.(Ser468Arg) NC_000014.9:95449975:G:C p.(Ser468Arg) NC_000014.9:95449975:G:C Identity +NM_015346.4:c.3899T>C NP_056161.2:p.Leu1300Pro NC_000014.9:67783252:A:G p.(Leu1300Pro) NC_000014.9:67783252:A:G p.(Leu1300Pro) NC_000014.9:67783252:A:G Identity +NM_001135.4:c.6001A>G NP_001126.3:p.Thr2001Ala NC_000015.10:88858585:A:G p.(Thr2001Ala) NC_000015.10:88858585:A:G p.(Thr2001Ala) NC_000015.10:88858585:A:G Identity +NM_014693.4:c.1712G>T NP_055508.3:p.Arg571Leu NC_000003.12:184287930:G:T p.(Arg571Leu) NC_000003.12:184287930:G:T p.(Arg571Leu) NC_000003.12:184287930:G:T Identity +NM_001276468.2:c.808G>C NP_001263397.1:p.Val270Leu NC_000012.12:57628741:C:G p.(Val270Leu) NC_000012.12:57628741:C:G p.(Val270Leu) NC_000012.12:57628741:C:G Identity +NM_000526.5:c.679G>A NP_000517.3:p.Glu227Lys NC_000017.11:41584342:C:T p.(Glu227Lys) NC_000017.11:41584342:C:T p.(Glu227Lys) NC_000017.11:41584342:C:T Identity +NM_001143970.2:c.16T>A NP_001137442.1:p.Ser6Thr NC_000006.12:4892099:T:A p.(Ser6Thr) NC_000006.12:4892099:T:A p.(Ser6Thr) NC_000006.12:4892099:T:A Identity +NM_001369565.1:c.884C>T NP_001356494.1:p.Thr295Ile NC_000001.11:40462867:C:T p.(Thr295Ile) NC_000001.11:40462867:C:T p.(Thr295Ile) NC_000001.11:40462867:C:T Identity +NM_004983.3:c.70T>G NP_004974.2:p.Tyr24Asp NC_000001.11:160084099:T:G p.(Tyr24Asp) NC_000001.11:160084099:T:G p.(Tyr24Asp) NC_000001.11:160084099:T:G Identity +NM_001367906.1:c.797C>T NP_001354835.1:p.Pro266Leu NC_000011.10:62578923:G:A p.(Pro266Leu) NC_000011.10:62578923:G:A p.(Pro266Leu) NC_000011.10:62578923:G:A Identity +NM_020945.2:c.7399G>C NP_065996.1:p.Asp2467His NC_000010.11:48897535:G:C p.(Asp2467His) NC_000010.11:48897535:G:C p.(Asp2467His) NC_000010.11:48897535:G:C Identity +NM_198495.3:c.974A>G NP_940897.2:p.Asn325Ser NC_000007.14:144184476:A:G p.(Asn325Ser) NC_000007.14:144184476:A:G p.(Asn325Ser) NC_000007.14:144184476:A:G Identity +NM_001142593.3:c.119A>G NP_001136065.1:p.Gln40Arg NC_000014.9:93076595:T:C p.(Gln40Arg) NC_000014.9:93076595:T:C p.(Gln40Arg) NC_000014.9:93076595:T:C Identity +NM_001256264.2:c.2720C>A NP_001243193.1:p.Ala907Glu NC_000017.11:18246975:G:T p.(Ala907Glu) NC_000017.11:18246975:G:T p.(Ala907Glu) NC_000017.11:18246975:G:T Identity +NM_001161560.3:c.2432C>A NP_001155032.1:p.Thr811Lys NC_000003.12:171101583:G:T p.(Thr811Lys) NC_000003.12:171101583:G:T p.(Thr811Lys) NC_000003.12:171101583:G:T Identity +NM_005224.3:c.1541A>G NP_005215.1:p.Asn514Ser NC_000019.10:968449:A:G p.(Asn514Ser) NC_000019.10:968449:A:G p.(Asn514Ser) NC_000019.10:968449:A:G Identity +NM_001004.4:c.62A>G NP_000995.1:p.Lys21Arg NC_000011.10:810295:A:G p.(Lys21Arg) NC_000011.10:810295:A:G p.(Lys21Arg) NC_000011.10:810295:A:G Identity +NM_001098519.2:c.1774C>T NP_001091989.1:p.Arg592Cys NC_000012.12:122200898:C:T p.(Arg592Cys) NC_000012.12:122200898:C:T p.(Arg592Cys) NC_000012.12:122200898:C:T Identity +NM_001271946.2:c.446C>G NP_001258875.2:p.Pro149Arg NC_000005.10:168883303:G:C p.(Pro149Arg) NC_000005.10:168883303:G:C p.(Pro149Arg) NC_000005.10:168883303:G:C Identity +NM_001030001.4:c.139G>T NP_001025172.1:p.Ala47Ser NC_000014.9:49585972:C:A p.(Ala47Ser) NC_000014.9:49585972:C:A p.(Ala47Ser) NC_000014.9:49585972:C:A Identity +NM_001243794.2:c.299G>C NP_001230723.1:p.Ser100Thr NC_000007.14:2432937:G:C p.(Ser100Thr) NC_000007.14:2432937:G:C p.(Ser100Thr) NC_000007.14:2432937:G:C Identity +NM_033512.3:c.436G>C NP_277047.2:p.Gly146Arg NC_000008.11:97277408:C:G p.(Gly146Arg) NC_000008.11:97277408:C:G p.(Gly146Arg) NC_000008.11:97277408:C:G Identity +NM_001387142.1:c.368A>G NP_001374071.1:p.Asn123Ser NC_000015.10:78054179:T:C p.(Asn123Ser) NC_000015.10:78054179:T:C p.(Asn123Ser) NC_000015.10:78054179:T:C Identity +NM_001320276.2:c.817G>A NP_001307205.1:p.Glu273Lys NC_000003.12:14819887:G:A p.(Glu273Lys) NC_000003.12:14819887:G:A p.(Glu273Lys) NC_000003.12:14819887:G:A Identity +NM_001166058.2:c.494A>T NP_001159530.1:p.Lys165Met NC_000013.11:31766023:A:T p.(Lys165Met) NC_000013.11:31766023:A:T p.(Lys165Met) NC_000013.11:31766023:A:T Identity +NM_001100915.3:c.491C>G NP_001094385.1:p.Pro164Arg NC_000016.10:67303297:G:C p.(Pro164Arg) NC_000016.10:67303297:G:C p.(Pro164Arg) NC_000016.10:67303297:G:C Identity +NM_152375.3:c.778T>C NP_689588.2:p.Tyr260His NC_000001.11:18481758:T:C p.(Tyr260His) NC_000001.11:18481758:T:C p.(Tyr260His) NC_000001.11:18481758:T:C Identity +NM_033272.4:c.2294A>G NP_150375.2:p.His765Arg NC_000002.12:162400301:T:C p.(His765Arg) NC_000002.12:162400301:T:C p.(His765Arg) NC_000002.12:162400301:T:C Identity +NM_001191056.3:c.1106C>G NP_001177985.1:p.Ser369Cys NC_000007.14:31837276:G:C p.(Ser369Cys) NC_000007.14:31837276:G:C p.(Ser369Cys) NC_000007.14:31837276:G:C Identity +NM_001307952.2:c.775T>G NP_001294881.1:p.Ser259Ala NC_000015.10:88879173:A:C p.(Ser259Ala) NC_000015.10:88879173:A:C p.(Ser259Ala) NC_000015.10:88879173:A:C Identity +NM_004933.3:c.549G>T NP_004924.1:p.Glu183Asp NC_000016.10:89185218:G:T p.(Glu183Asp) NC_000016.10:89185218:G:T p.(Glu183Asp) NC_000016.10:89185218:G:T Identity +NM_022131.3:c.823G>A NP_071414.2:p.Gly275Arg NC_000003.12:140448553:G:A p.(Gly275Arg) NC_000003.12:140448553:G:A p.(Gly275Arg) NC_000003.12:140448553:G:A Identity +NM_024669.3:c.1042C>G NP_078945.2:p.Gln348Glu NC_000005.10:56111705:G:C p.(Gln348Glu) NC_000005.10:56111705:G:C p.(Gln348Glu) NC_000005.10:56111705:G:C Identity +NM_001040000.3:c.4526A>C NP_001035089.1:p.Asp1509Ala NC_000006.12:167951900:A:C p.(Asp1509Ala) NC_000006.12:167951900:A:C p.(Asp1509Ala) NC_000006.12:167951900:A:C Identity +NM_001376227.1:c.929G>A NP_001363156.1:p.Arg310His NC_000017.11:42119388:C:T p.(Arg310His) NC_000017.11:42119388:C:T p.(Arg310His) NC_000017.11:42119388:C:T Identity +NM_018963.5:c.4322G>A NP_061836.2:p.Arg1441Gln NC_000021.9:39206149:C:T p.(Arg1441Gln) NC_000021.9:39206149:C:T p.(Arg1441Gln) NC_000021.9:39206149:C:T Identity +NM_001199867.2:c.2242A>C NP_001186796.1:p.Asn748His NC_000019.10:45302692:A:C p.(Asn748His) NC_000019.10:45302692:A:C p.(Asn748His) NC_000019.10:45302692:A:C Identity +NM_001303245.3:c.364G>A NP_001290174.1:p.Ala122Thr NC_000003.12:141529715:G:A p.(Ala122Thr) NC_000003.12:141529715:G:A p.(Ala122Thr) NC_000003.12:141529715:G:A Identity +NM_207322.3:c.614G>A NP_997205.2:p.Arg205His NC_000015.10:62068226:G:A p.(Arg205His) NC_000015.10:62068226:G:A p.(Arg205His) NC_000015.10:62068226:G:A Identity +NM_153690.5:c.132A>T NP_710157.2:p.Glu44Asp NC_000003.12:194686957:A:T p.(Glu44Asp) NC_000003.12:194686957:A:T p.(Glu44Asp) NC_000003.12:194686957:A:T Identity +NM_004852.3:c.577G>A NP_004843.2:p.Gly193Ser NC_000018.10:57436292:G:A p.(Gly193Ser) NC_000018.10:57436292:G:A p.(Gly193Ser) NC_000018.10:57436292:G:A Identity +NM_001135920.4:c.605C>T NP_001129392.2:p.Thr202Ile NC_000009.12:5720634:C:T p.(Thr202Ile) NC_000009.12:5720634:C:T p.(Thr202Ile) NC_000009.12:5720634:C:T Identity +NM_001201543.2:c.1768A>G NP_001188472.1:p.Arg590Gly NC_000002.12:61836092:T:C p.(Arg590Gly) NC_000002.12:61836092:T:C p.(Arg590Gly) NC_000002.12:61836092:T:C Identity +NM_000420.3:c.538C>T NP_000411.1:p.Arg180Cys NC_000007.14:142957960:G:A p.(Arg180Cys) NC_000007.14:142957960:G:A p.(Arg180Cys) NC_000007.14:142957960:G:A Identity +NM_006186.4:c.605T>C NP_006177.1:p.Met202Thr NC_000002.12:156329581:A:G p.(Met202Thr) NC_000002.12:156329581:A:G p.(Met202Thr) NC_000002.12:156329581:A:G Identity +NM_001318891.2:c.901A>C NP_001305820.1:p.Thr301Pro NC_000006.12:27452657:T:G p.(Thr301Pro) NC_000006.12:27452657:T:G p.(Thr301Pro) NC_000006.12:27452657:T:G Identity +NM_001083536.2:c.962G>A NP_001077005.1:p.Arg321Gln NC_000009.12:93010369:G:A p.(Arg321Gln) NC_000009.12:93010369:G:A p.(Arg321Gln) NC_000009.12:93010369:G:A Identity +NM_001349370.3:c.2753C>G NP_001336299.1:p.Ala918Gly NC_000003.12:47121750:G:C p.(Ala918Gly) NC_000003.12:47121750:G:C p.(Ala918Gly) NC_000003.12:47121750:G:C Identity +NM_001288732.2:c.1789C>T NP_001275661.1:p.Pro597Ser NC_000017.11:64194950:G:A p.(Pro597Ser) NC_000017.11:64194950:G:A p.(Pro597Ser) NC_000017.11:64194950:G:A Identity +NM_000818.3:c.1738C>T NP_000809.1:p.Arg580Cys NC_000010.11:26300940:C:T p.(Arg580Cys) NC_000010.11:26300940:C:T p.(Arg580Cys) NC_000010.11:26300940:C:T Identity +NM_003844.4:c.21A>T NP_003835.3:p.Arg7Ser NC_000008.11:23225040:T:A p.(Arg7Ser) NC_000008.11:23225040:T:A p.(Arg7Ser) NC_000008.11:23225040:T:A Identity +NM_001316957.3:c.181G>C NP_001303886.1:p.Gly61Arg NC_000011.10:77869769:G:C p.(Gly61Arg) NC_000011.10:77869769:G:C p.(Gly61Arg) NC_000011.10:77869769:G:C Identity +NM_080622.4:c.158C>T NP_542189.1:p.Ala53Val NC_000020.11:63861697:C:T p.(Ala53Val) NC_000020.11:63861697:C:T p.(Ala53Val) NC_000020.11:63861697:C:T Identity +NM_001286581.2:c.4649T>C NP_001273510.1:p.Leu1550Pro NC_000011.10:610732:T:C p.(Leu1550Pro) NC_000011.10:610732:T:C p.(Leu1550Pro) NC_000011.10:610732:T:C Identity +NM_001193282.4:c.721G>A NP_001180211.2:p.Glu241Lys NC_000004.12:2449747:G:A p.(Glu241Lys) NC_000004.12:2449747:G:A p.(Glu241Lys) NC_000004.12:2449747:G:A Identity +NM_014345.3:c.3346C>T NP_055160.2:p.Arg1116Cys NC_000006.12:43342141:G:A p.(Arg1116Cys) NC_000006.12:43342141:G:A p.(Arg1116Cys) NC_000006.12:43342141:G:A Identity +NM_001318890.3:c.829T>A NP_001305819.1:p.Trp277Arg NC_000016.10:20669909:A:T p.(Trp277Arg) NC_000016.10:20669909:A:T p.(Trp277Arg) NC_000016.10:20669909:A:T Identity +NM_001300780.2:c.2579T>C NP_001287709.1:p.Leu860Pro NC_000005.10:116447177:A:G p.(Leu860Pro) NC_000005.10:116447177:A:G p.(Leu860Pro) NC_000005.10:116447177:A:G Identity +NM_001194999.2:c.772A>C NP_001181928.1:p.Lys258Gln NC_000001.11:181053598:A:C p.(Lys258Gln) NC_000001.11:181053598:A:C p.(Lys258Gln) NC_000001.11:181053598:A:C Identity +NM_030641.4:c.296C>T NP_085144.1:p.Ala99Val NC_000022.11:35658859:C:T p.(Ala99Val) NC_000022.11:35658859:C:T p.(Ala99Val) NC_000022.11:35658859:C:T Identity +NM_001278610.2:c.547G>A NP_001265539.1:p.Glu183Lys NC_000020.11:43692274:G:A p.(Glu183Lys) NC_000020.11:43692274:G:A p.(Glu183Lys) NC_000020.11:43692274:G:A Identity +NM_001394024.1:c.1247G>A NP_001380953.1:p.Arg416His NC_000020.11:42472468:C:T p.(Arg416His) NC_000020.11:42472468:C:T p.(Arg416His) NC_000020.11:42472468:C:T Identity +NM_153834.4:c.2392A>G NP_722576.3:p.Asn798Asp NC_000023.11:136346097:A:G p.(Asn798Asp) NC_000023.11:136346097:A:G p.(Asn798Asp) NC_000023.11:136346097:A:G Identity +NM_001040105.2:c.8798T>C NP_001035194.1:p.Ile2933Thr NC_000007.14:101040213:T:C p.(Ile2933Thr) NC_000007.14:101040213:T:C p.(Ile2933Thr) NC_000007.14:101040213:T:C Identity +NM_002318.3:c.1838C>T NP_002309.1:p.Pro613Leu NC_000008.11:23309709:G:A p.(Pro613Leu) NC_000008.11:23309709:G:A p.(Pro613Leu) NC_000008.11:23309709:G:A Identity +NM_001114133.3:c.593G>A NP_001107605.1:p.Arg198His NC_000010.11:73653317:C:T p.(Arg198His) NC_000010.11:73653317:C:T p.(Arg198His) NC_000010.11:73653317:C:T Identity +NM_001114173.3:c.199T>C NP_001107645.1:p.Tyr67His NC_000011.10:88335055:A:G p.(Tyr67His) NC_000011.10:88335055:A:G p.(Tyr67His) NC_000011.10:88335055:A:G Identity +NM_001100161.2:c.2345A>C NP_001093631.1:p.Lys782Thr NC_000008.11:21995571:A:C p.(Lys782Thr) NC_000008.11:21995571:A:C p.(Lys782Thr) NC_000008.11:21995571:A:C Identity +NM_001039360.3:c.539C>T NP_001034449.1:p.Pro180Leu NC_000018.10:48040568:G:A p.(Pro180Leu) NC_000018.10:48040568:G:A p.(Pro180Leu) NC_000018.10:48040568:G:A Identity +NM_198581.3:c.1433G>A NP_940983.2:p.Ser478Asn NC_000002.12:112324243:G:A p.(Ser478Asn) NC_000002.12:112324243:G:A p.(Ser478Asn) NC_000002.12:112324243:G:A Identity +NM_001005237.1:c.148G>A NP_001005237.1:p.Val50Ile NC_000011.10:4924191:C:T p.(Val50Ile) NC_000011.10:4924191:C:T p.(Val50Ile) NC_000011.10:4924191:C:T Identity +NM_001185099.2:c.92C>T NP_001172028.1:p.Thr31Ile NC_000019.10:35332603:C:T p.(Thr31Ile) NC_000019.10:35332603:C:T p.(Thr31Ile) NC_000019.10:35332603:C:T Identity +NM_001005291.3:c.815C>A NP_001005291.1:p.Pro272His NC_000017.11:17819440:G:T p.(Pro272His) NC_000017.11:17819440:G:T p.(Pro272His) NC_000017.11:17819440:G:T Identity +NM_001077710.3:c.523G>A NP_001071178.2:p.Ala175Thr NC_000002.12:45862:C:T p.(Ala175Thr) NC_000002.12:45862:C:T p.(Ala175Thr) NC_000002.12:45862:C:T Identity +NM_001374871.1:c.1349G>A NP_001361800.1:p.Arg450His NC_000016.10:69334584:C:T p.(Arg450His) NC_000016.10:69334584:C:T p.(Arg450His) NC_000016.10:69334584:C:T Identity +NM_144666.3:c.1288T>C NP_653267.2:p.Cys430Arg NC_000011.10:6511324:T:C p.(Cys430Arg) NC_000011.10:6511324:T:C p.(Cys430Arg) NC_000011.10:6511324:T:C Identity +NM_001145159.3:c.314C>T NP_001138631.1:p.Thr105Met NC_000008.11:28837660:G:A p.(Thr105Met) NC_000008.11:28837660:G:A p.(Thr105Met) NC_000008.11:28837660:G:A Identity +NM_001395363.1:c.281C>A NP_001382292.1:p.Pro94His NC_000007.14:517411:G:T p.(Pro94His) NC_000007.14:517411:G:T p.(Pro94His) NC_000007.14:517411:G:T Identity +NM_001319654.1:c.794T>C NP_001306583.1:p.Ile265Thr NC_000010.11:43158846:T:C p.(Ile265Thr) NC_000010.11:43158846:T:C p.(Ile265Thr) NC_000010.11:43158846:T:C Identity +NM_001002836.4:c.190G>C NP_001002836.2:p.Ala64Pro NC_000019.10:56088981:C:G p.(Ala64Pro) NC_000019.10:56088981:C:G p.(Ala64Pro) NC_000019.10:56088981:C:G Identity +NM_001350174.1:c.1285C>G NP_001337103.1:p.Pro429Ala NC_000001.11:109490080:C:G p.(Pro429Ala) NC_000001.11:109490080:C:G p.(Pro429Ala) NC_000001.11:109490080:C:G Identity +NM_001291860.2:c.11960G>A NP_001278789.1:p.Gly3987Asp NC_000001.11:21829417:C:T p.(Gly3987Asp) NC_000001.11:21829417:C:T p.(Gly3987Asp) NC_000001.11:21829417:C:T Identity +NM_001146337.3:c.2123G>A NP_001139809.1:p.Gly708Glu NC_000005.10:149332841:G:A p.(Gly708Glu) NC_000005.10:149332841:G:A p.(Gly708Glu) NC_000005.10:149332841:G:A Identity +NM_001365116.2:c.2827C>T NP_001352045.1:p.Pro943Ser NC_000003.12:46997664:C:T p.(Pro943Ser) NC_000003.12:46997664:C:T p.(Pro943Ser) NC_000003.12:46997664:C:T Identity +NM_001130009.3:c.2653A>C NP_001123481.3:p.Asn885His NC_000002.12:17781864:A:C p.(Asn885His) NC_000002.12:17781864:A:C p.(Asn885His) NC_000002.12:17781864:A:C Identity +NM_001372305.1:c.1022G>A NP_001359234.1:p.Arg341His NC_000019.10:50323702:C:T p.(Arg341His) NC_000019.10:50323702:C:T p.(Arg341His) NC_000019.10:50323702:C:T Identity +NM_006597.6:c.787C>T NP_006588.1:p.Leu263Phe NC_000011.10:123059805:G:A p.(Leu263Phe) NC_000011.10:123059805:G:A p.(Leu263Phe) NC_000011.10:123059805:G:A Identity +NM_001367759.1:c.2695G>A NP_001354688.1:p.Asp899Asn NC_000006.12:121161054:C:T p.(Asp899Asn) NC_000006.12:121161054:C:T p.(Asp899Asn) NC_000006.12:121161054:C:T Identity +NM_031477.5:c.109C>A NP_113665.3:p.Pro37Thr NC_000016.10:30095373:G:T p.(Pro37Thr) NC_000016.10:30095373:G:T p.(Pro37Thr) NC_000016.10:30095373:G:T Identity +NM_001384466.1:c.1295C>T NP_001371395.1:p.Thr432Met NC_000011.10:64117561:C:T p.(Thr432Met) NC_000011.10:64117561:C:T p.(Thr432Met) NC_000011.10:64117561:C:T Identity +NM_004473.4:c.113G>A NP_004464.2:p.Arg38His NC_000009.12:97854026:G:A p.(Arg38His) NC_000009.12:97854026:G:A p.(Arg38His) NC_000009.12:97854026:G:A Identity +NM_002233.4:c.1603G>T NP_002224.1:p.Val535Leu NC_000011.10:30011075:C:A p.(Val535Leu) NC_000011.10:30011075:C:A p.(Val535Leu) NC_000011.10:30011075:C:A Identity +NM_001184801.2:c.301C>A NP_001171730.1:p.Arg101Ser NC_000006.12:42573955:C:A p.(Arg101Ser) NC_000006.12:42573955:C:A p.(Arg101Ser) NC_000006.12:42573955:C:A Identity +NM_016538.3:c.1040T>C NP_057622.1:p.Leu347Pro NC_000017.11:81912578:A:G p.(Leu347Pro) NC_000017.11:81912578:A:G p.(Leu347Pro) NC_000017.11:81912578:A:G Identity +NM_017629.4:c.203T>C NP_060099.2:p.Met68Thr NC_000001.11:35822878:T:C p.(Met68Thr) NC_000001.11:35822878:T:C p.(Met68Thr) NC_000001.11:35822878:T:C Identity +NM_001286554.2:c.683C>A NP_001273483.1:p.Ala228Asp NC_000006.12:41806300:G:T p.(Ala228Asp) NC_000006.12:41806300:G:T p.(Ala228Asp) NC_000006.12:41806300:G:T Identity +NM_001297619.2:c.757G>A NP_001284548.1:p.Gly253Ser NC_000019.10:36341071:C:T p.(Gly253Ser) NC_000019.10:36341071:C:T p.(Gly253Ser) NC_000019.10:36341071:C:T Identity +NM_001321522.2:c.2390A>T NP_001308451.1:p.His797Leu NC_000019.10:53353064:A:T p.(His797Leu) NC_000019.10:53353064:A:T p.(His797Leu) NC_000019.10:53353064:A:T Identity +NM_001143906.2:c.1643A>C NP_001137378.1:p.Asn548Thr NC_000012.12:112152449:A:C p.(Asn548Thr) NC_000012.12:112152449:A:C p.(Asn548Thr) NC_000012.12:112152449:A:C Identity +NM_001370498.1:c.994A>G NP_001357427.1:p.Ser332Gly NC_000011.10:7509972:A:G p.(Ser332Gly) NC_000011.10:7509972:A:G p.(Ser332Gly) NC_000011.10:7509972:A:G Identity +NM_001145645.2:c.143T>A NP_001139117.1:p.Leu48Gln NC_000013.11:108270037:T:A p.(Leu48Gln) NC_000013.11:108270037:T:A p.(Leu48Gln) NC_000013.11:108270037:T:A Identity +NM_001376864.1:c.4670C>T NP_001363793.1:p.Pro1557Leu NC_000022.11:50278967:G:A p.(Pro1557Leu) NC_000022.11:50278967:G:A p.(Pro1557Leu) NC_000022.11:50278967:G:A Identity +NM_001166449.2:c.1447C>T NP_001159921.1:p.Arg483Trp NC_000003.12:52823647:G:A p.(Arg483Trp) NC_000003.12:52823647:G:A p.(Arg483Trp) NC_000003.12:52823647:G:A Identity +NM_001171933.1:c.1626T>A NP_001165404.1:p.Asp542Glu NC_000010.11:71807552:T:A p.(Asp542Glu) NC_000010.11:71807552:T:A p.(Asp542Glu) NC_000010.11:71807552:T:A Identity +NM_152309.3:c.416A>C NP_689522.2:p.Lys139Thr NC_000010.11:96709580:T:G p.(Lys139Thr) NC_000010.11:96709580:T:G p.(Lys139Thr) NC_000010.11:96709580:T:G Identity +NM_180990.4:c.106T>A NP_851321.2:p.Ser36Thr NC_000017.11:76079446:T:A p.(Ser36Thr) NC_000017.11:76079446:T:A p.(Ser36Thr) NC_000017.11:76079446:T:A Identity +NM_001005189.2:c.50T>G NP_001005189.1:p.Phe17Cys NC_000001.11:158548055:A:C p.(Phe17Cys) NC_000001.11:158548055:A:C p.(Phe17Cys) NC_000001.11:158548055:A:C Identity +NM_001011719.2:c.239A>G NP_001011719.1:p.Asn80Ser NC_000023.11:3013070:A:G p.(Asn80Ser) NC_000023.11:3013070:A:G p.(Asn80Ser) NC_000023.11:3013070:A:G Identity +NM_173564.4:c.1268A>C NP_775835.2:p.Glu423Ala NC_000007.14:100488988:A:C p.(Glu423Ala) NC_000007.14:100488988:A:C p.(Glu423Ala) NC_000007.14:100488988:A:C Identity +NM_178019.3:c.523T>C NP_821138.1:p.Tyr175His NC_000005.10:135007986:T:C p.(Tyr175His) NC_000005.10:135007986:T:C p.(Tyr175His) NC_000005.10:135007986:T:C Identity +NM_017906.3:c.979T>C NP_060376.2:p.Ser327Pro NC_000006.12:10709251:T:C p.(Ser327Pro) NC_000006.12:10709251:T:C p.(Ser327Pro) NC_000006.12:10709251:T:C Identity +NM_000505.4:c.1418G>A NP_000496.2:p.Gly473Asp NC_000005.10:177403366:C:T p.(Gly473Asp) NC_000005.10:177403366:C:T p.(Gly473Asp) NC_000005.10:177403366:C:T Identity +NM_001394062.1:c.16469G>A NP_001380991.1:p.Arg5490Gln NC_000001.11:39427606:G:A p.(Arg5490Gln) NC_000001.11:39427606:G:A p.(Arg5490Gln) NC_000001.11:39427606:G:A Identity +NM_001101421.4:c.2318G>T NP_001094891.4:p.Arg773Leu NC_000012.12:109439653:G:T p.(Arg773Leu) NC_000012.12:109439653:G:T p.(Arg773Leu) NC_000012.12:109439653:G:T Identity +NM_004473.4:c.483G>C NP_004464.2:p.Met161Ile NC_000009.12:97854396:G:C p.(Met161Ile) NC_000009.12:97854396:G:C p.(Met161Ile) NC_000009.12:97854396:G:C Identity +NM_001004473.2:c.575C>T NP_001004473.1:p.Ser192Phe NC_000001.11:158466135:C:T p.(Ser192Phe) NC_000001.11:158466135:C:T p.(Ser192Phe) NC_000001.11:158466135:C:T Identity +NM_001284330.2:c.1147G>C NP_001271259.1:p.Asp383His NC_000007.14:44073635:C:G p.(Asp383His) NC_000007.14:44073635:C:G p.(Asp383His) NC_000007.14:44073635:C:G Identity +NM_001278055.2:c.5698C>A NP_001264984.1:p.Leu1900Ile NC_000013.11:23337736:G:T p.(Leu1900Ile) NC_000013.11:23337736:G:T p.(Leu1900Ile) NC_000013.11:23337736:G:T Identity +NM_001110514.2:c.1975G>A NP_001103984.2:p.Val659Met NC_000020.11:2755760:G:A p.(Val659Met) NC_000020.11:2755760:G:A p.(Val659Met) NC_000020.11:2755760:G:A Identity +NM_001172655.1:c.1523A>C NP_001166126.1:p.Glu508Ala NC_000019.10:52583383:A:C p.(Glu508Ala) NC_000019.10:52583383:A:C p.(Glu508Ala) NC_000019.10:52583383:A:C Identity +NM_001098.3:c.305C>T NP_001089.1:p.Thr102Met NC_000022.11:41507921:C:T p.(Thr102Met) NC_000022.11:41507921:C:T p.(Thr102Met) NC_000022.11:41507921:C:T Identity +NM_001076788.2:c.3620G>A NP_001070256.1:p.Arg1207His NC_000013.11:45968923:C:T p.(Arg1207His) NC_000013.11:45968923:C:T p.(Arg1207His) NC_000013.11:45968923:C:T Identity +NM_001282933.2:c.1070G>A NP_001269862.1:p.Arg357His NC_000020.11:33761902:G:A p.(Arg357His) NC_000020.11:33761902:G:A p.(Arg357His) NC_000020.11:33761902:G:A Identity +NM_001330990.2:c.845A>G NP_001317919.1:p.Lys282Arg NC_000003.12:47843244:A:G p.(Lys282Arg) NC_000003.12:47843244:A:G p.(Lys282Arg) NC_000003.12:47843244:A:G Identity +NM_001385481.1:c.526A>G NP_001372410.1:p.Met176Val NC_000023.11:153456571:T:C p.(Met176Val) NC_000023.11:153456571:T:C p.(Met176Val) NC_000023.11:153456571:T:C Identity +NM_001324171.2:c.929C>G NP_001311100.1:p.Thr310Ser NC_000016.10:74917965:G:C p.(Thr310Ser) NC_000016.10:74917965:G:C p.(Thr310Ser) NC_000016.10:74917965:G:C Identity +NM_002250.3:c.1246C>T NP_002241.1:p.Pro416Ser NC_000019.10:43767580:G:A p.(Pro416Ser) NC_000019.10:43767580:G:A p.(Pro416Ser) NC_000019.10:43767580:G:A Identity +NM_001145418.2:c.4448C>T NP_001138890.1:p.Ala1483Val NC_000022.11:27999210:G:A p.(Ala1483Val) NC_000022.11:27999210:G:A p.(Ala1483Val) NC_000022.11:27999210:G:A Identity +NM_001271661.2:c.1762C>G NP_001258590.1:p.Pro588Ala NC_000002.12:74680122:C:G p.(Pro588Ala) NC_000002.12:74680122:C:G p.(Pro588Ala) NC_000002.12:74680122:C:G Identity +NM_001141917.2:c.1402C>A NP_001135389.1:p.Pro468Thr NC_000009.12:34725837:G:T p.(Pro468Thr) NC_000009.12:34725837:G:T p.(Pro468Thr) NC_000009.12:34725837:G:T Identity +NM_013245.3:c.97C>G NP_037377.1:p.Gln33Glu NC_000016.10:69316082:C:G p.(Gln33Glu) NC_000016.10:69316082:C:G p.(Gln33Glu) NC_000016.10:69316082:C:G Identity +NM_001167671.3:c.169C>G NP_001161143.1:p.Pro57Ala NC_000003.12:188406288:C:G p.(Pro57Ala) NC_000003.12:188406288:C:G p.(Pro57Ala) NC_000003.12:188406288:C:G Identity +NM_001384609.1:c.1753G>A NP_001371538.1:p.Val585Ile NC_000013.11:87677140:G:A p.(Val585Ile) NC_000013.11:87677140:G:A p.(Val585Ile) NC_000013.11:87677140:G:A Identity +NM_001300861.2:c.229A>G NP_001287790.1:p.Met77Val NC_000011.10:66288094:T:C p.(Met77Val) NC_000011.10:66288094:T:C p.(Met77Val) NC_000011.10:66288094:T:C Identity +NM_001278346.1:c.1145G>A NP_001265275.1:p.Arg382Gln NC_000005.10:178213007:C:T p.(Arg382Gln) NC_000005.10:178213007:C:T p.(Arg382Gln) NC_000005.10:178213007:C:T Identity +NM_001122772.3:c.601G>A NP_001116244.1:p.Gly201Ser NC_000012.12:57737645:C:T p.(Gly201Ser) NC_000012.12:57737645:C:T p.(Gly201Ser) NC_000012.12:57737645:C:T Identity +NM_173653.4:c.55C>G NP_775924.1:p.Gln19Glu NC_000003.12:143848267:G:C p.(Gln19Glu) NC_000003.12:143848267:G:C p.(Gln19Glu) NC_000003.12:143848267:G:C Identity +NM_025106.4:c.284G>A NP_079382.2:p.Arg95His NC_000001.11:9356174:G:A p.(Arg95His) NC_000001.11:9356174:G:A p.(Arg95His) NC_000001.11:9356174:G:A Identity +NM_001284292.2:c.1237A>T NP_001271221.2:p.Thr413Ser NC_000015.10:34354606:A:T p.(Thr413Ser) NC_000015.10:34354606:A:T p.(Thr413Ser) NC_000015.10:34354606:A:T Identity +NM_001349112.3:c.1541T>A NP_001336041.1:p.Ile514Asn NC_000001.11:19683403:A:T p.(Ile514Asn) NC_000001.11:19683403:A:T p.(Ile514Asn) NC_000001.11:19683403:A:T Identity +NM_001083900.1:c.12314A>G NP_001077369.1:p.Tyr4105Cys NC_000012.12:123930456:A:G ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001270965.2:c.2201G>C NP_001257894.1:p.Arg734Pro NC_000010.11:102405470:C:G p.(Arg734Pro) NC_000010.11:102405470:C:G p.(Arg734Pro) NC_000010.11:102405470:C:G Identity +NM_001377236.1:c.1232G>A NP_001364165.1:p.Gly411Asp NC_000005.10:433971:G:A p.(Gly411Asp) NC_000005.10:433971:G:A p.(Gly411Asp) NC_000005.10:433971:G:A Identity +NM_001297741.2:c.146A>G NP_001284670.1:p.His49Arg NC_000011.10:13421649:T:C p.(His49Arg) NC_000011.10:13421649:T:C p.(His49Arg) NC_000011.10:13421649:T:C Identity +NM_001145664.2:c.1048G>T NP_001139136.2:p.Asp350Tyr NC_000002.12:101402632:C:A p.(Asp350Tyr) NC_000002.12:101402632:C:A p.(Asp350Tyr) NC_000002.12:101402632:C:A Identity +NM_018672.5:c.1024G>A NP_061142.2:p.Gly342Ser NC_000017.11:69302812:C:T p.(Gly342Ser) NC_000017.11:69302812:C:T p.(Gly342Ser) NC_000017.11:69302812:C:T Identity +NM_014689.3:c.92C>A NP_055504.2:p.Ala31Glu NC_000002.12:225042282:G:T p.(Ala31Glu) NC_000002.12:225042282:G:T p.(Ala31Glu) NC_000002.12:225042282:G:T Identity +NM_001297575.2:c.157A>C NP_001284504.1:p.Thr53Pro NC_000001.11:179575707:T:G p.(Thr53Pro) NC_000001.11:179575707:T:G p.(Thr53Pro) NC_000001.11:179575707:T:G Identity +NM_001253357.2:c.481G>A NP_001240286.1:p.Ala161Thr NC_000001.11:43306970:G:A p.(Ala161Thr) NC_000001.11:43306970:G:A p.(Ala161Thr) NC_000001.11:43306970:G:A Identity +NM_001005739.2:c.1378A>C NP_001005739.1:p.Ile460Leu NC_000002.12:63933997:T:G p.(Ile460Leu) NC_000002.12:63933997:T:G p.(Ile460Leu) NC_000002.12:63933997:T:G Identity +NM_004279.3:c.820C>G NP_004270.2:p.Leu274Val NC_000007.14:103307678:C:G p.(Leu274Val) NC_000007.14:103307678:C:G p.(Leu274Val) NC_000007.14:103307678:C:G Identity +NM_004922.4:c.2398A>G NP_004913.2:p.Asn800Asp NC_000010.11:73769125:A:G p.(Asn800Asp) NC_000010.11:73769125:A:G p.(Asn800Asp) NC_000010.11:73769125:A:G Identity +NM_001170750.2:c.761A>T NP_001164221.1:p.Lys254Met NC_000023.11:38160150:T:A p.(Lys254Met) NC_000023.11:38160150:T:A p.(Lys254Met) NC_000023.11:38160150:T:A Identity +NM_001294145.2:c.362A>C NP_001281074.1:p.Asp121Ala NC_000002.12:169806800:A:C p.(Asp121Ala) NC_000002.12:169806800:A:C p.(Asp121Ala) NC_000002.12:169806800:A:C Identity +NM_152266.5:c.283C>T NP_689479.1:p.Arg95Trp NC_000019.10:32974098:C:T p.(Arg95Trp) NC_000019.10:32974098:C:T p.(Arg95Trp) NC_000019.10:32974098:C:T Identity +NM_005908.4:c.2230G>C NP_005899.3:p.Gly744Arg NC_000004.12:102634972:C:G p.(Gly744Arg) NC_000004.12:102634972:C:G p.(Gly744Arg) NC_000004.12:102634972:C:G Identity +NM_001082480.2:c.944G>A NP_001075949.1:p.Arg315His NC_000008.11:143650935:G:A p.(Arg315His) NC_000008.11:143650935:G:A p.(Arg315His) NC_000008.11:143650935:G:A Identity +NM_001258461.2:c.236C>G NP_001245390.1:p.Ala79Gly NC_000007.14:151079768:G:C p.(Ala79Gly) NC_000007.14:151079768:G:C p.(Ala79Gly) NC_000007.14:151079768:G:C Identity +NM_001128141.3:c.704A>G NP_001121613.1:p.His235Arg NC_000016.10:89637315:A:G p.(His235Arg) NC_000016.10:89637315:A:G p.(His235Arg) NC_000016.10:89637315:A:G Identity +NM_020726.5:c.776A>C NP_065777.1:p.Glu259Ala NC_000005.10:65781374:A:C p.(Glu259Ala) NC_000005.10:65781374:A:C p.(Glu259Ala) NC_000005.10:65781374:A:C Identity +NM_001139459.2:c.1534G>A NP_001132931.1:p.Gly512Arg NC_000001.11:246647734:G:A p.(Gly512Arg) NC_000001.11:246647734:G:A p.(Gly512Arg) NC_000001.11:246647734:G:A Identity +NM_001323342.2:c.3044G>A NP_001310271.1:p.Arg1015Gln NC_000001.11:246876080:C:T p.(Arg1015Gln) NC_000001.11:246876080:C:T p.(Arg1015Gln) NC_000001.11:246876080:C:T Identity +NM_001369694.1:c.215G>T NP_001356623.1:p.Gly72Val NC_000007.14:101174592:C:A p.(Gly72Val) NC_000007.14:101174592:C:A p.(Gly72Val) NC_000007.14:101174592:C:A Identity +NM_030771.2:c.518A>G NP_110398.1:p.Glu173Gly NC_000011.10:27350419:T:C p.(Glu173Gly) NC_000011.10:27350419:T:C p.(Glu173Gly) NC_000011.10:27350419:T:C Identity +NM_001319071.2:c.217A>G NP_001306000.1:p.Ile73Val NC_000003.12:45706790:A:G p.(Ile73Val) NC_000003.12:45706790:A:G p.? NC_000003.12:45706790:A:G Identity +NM_004667.6:c.10768C>G NP_004658.3:p.Leu3590Val NC_000015.10:28152808:G:C p.(Leu3590Val) NC_000015.10:28152808:G:C p.(Leu3590Val) NC_000015.10:28152808:G:C Identity +NM_001278425.3:c.1420G>A NP_001265354.2:p.Glu474Lys NC_000016.10:81163601:C:T p.(Glu474Lys) NW_025791800.1:211862:C:T p.(Glu474Lys) NC_000016.10:211862:C:T Identity +NM_002463.2:c.1924G>A NP_002454.1:p.Ala642Thr NC_000021.9:41408008:G:A p.(Ala642Thr) NC_000021.9:41408008:G:A p.(Ala642Thr) NC_000021.9:41408008:G:A Identity +NM_001350630.2:c.1976G>A NP_001337559.1:p.Gly659Glu NC_000001.11:223004101:G:A p.(Gly659Glu) NC_000001.11:223004101:G:A p.(Gly659Glu) NC_000001.11:223004101:G:A Identity +NM_001271665.2:c.395T>C NP_001258594.1:p.Val132Ala NC_000005.10:74770682:T:C p.(Val132Ala) NC_000005.10:74770682:T:C p.(Val132Ala) NC_000005.10:74770682:T:C Identity +NM_012175.4:c.1396C>T NP_036307.2:p.Arg466Cys NC_000011.10:33741927:G:A p.(Arg466Cys) NC_000011.10:33741927:G:A p.(Arg466Cys) NC_000011.10:33741927:G:A Identity +NM_177973.2:c.13G>A NP_814444.1:p.Ala5Thr NC_000019.10:48552264:G:A p.(Ala5Thr) NC_000019.10:48552264:G:A p.(Ala5Thr) NC_000019.10:48552264:G:A Identity +NM_032313.4:c.1108G>A NP_115689.1:p.Glu370Lys NC_000004.12:56976477:C:T p.(Glu370Lys) NC_000004.12:56976477:C:T p.(Glu370Lys) NC_000004.12:56976477:C:T Identity +NM_003502.4:c.1264G>A NP_003493.1:p.Gly422Ser NC_000016.10:298241:C:T p.(Gly422Ser) NC_000016.10:298241:C:T p.(Gly422Ser) NC_000016.10:298241:C:T Identity +NM_001144960.3:c.185T>C NP_001138432.1:p.Leu62Pro NC_000003.12:149790829:A:G p.(Leu62Pro) NC_000003.12:149790829:A:G p.(Leu62Pro) NC_000003.12:149790829:A:G Identity +NM_024577.4:c.2629G>A NP_078853.2:p.Val877Met NC_000005.10:149027102:C:T p.(Val877Met) NC_000005.10:149027102:C:T p.(Val877Met) NC_000005.10:149027102:C:T Identity +NM_001278298.2:c.863T>G NP_001265227.1:p.Phe288Cys NC_000003.12:130379612:T:G p.(Phe288Cys) NC_000003.12:130379612:T:G p.(Phe288Cys) NC_000003.12:130379612:T:G Identity +NM_001142502.2:c.269C>T NP_001135974.1:p.Thr90Ile NC_000019.10:45396987:G:A p.(Thr90Ile) NC_000019.10:45396987:G:A p.(Thr90Ile) NC_000019.10:45396987:G:A Identity +NM_001004058.2:c.226G>A NP_001004058.2:p.Val76Ile NC_000011.10:56160091:C:T p.(Val76Ile) NC_000011.10:56160091:C:T p.(Val76Ile) NC_000011.10:56160091:C:T Identity +NM_017564.10:c.4883G>A NP_060034.9:p.Gly1628Asp NC_000012.12:103727297:G:A p.(Gly1628Asp) NC_000012.12:103727297:G:A p.(Gly1628Asp) NC_000012.12:103727297:G:A Identity +NM_001142614.2:c.585T>A NP_001136086.1:p.Asp195Glu NC_000002.12:62831108:T:A p.(Asp195Glu) NC_000002.12:62831108:T:A p.(Asp195Glu) NC_000002.12:62831108:T:A Identity +NM_138426.4:c.1067G>A NP_612435.1:p.Arg356His NC_000007.14:8071020:G:A p.(Arg356His) NC_000007.14:8071020:G:A p.(Arg356His) NC_000007.14:8071020:G:A Identity +NM_014840.3:c.182T>A NP_055655.1:p.Leu61Gln NC_000012.12:106138471:A:T p.(Leu61Gln) NC_000012.12:106138471:A:T p.(Leu61Gln) NC_000012.12:106138471:A:T Identity +NM_001199322.1:c.103C>T NP_001186251.1:p.Arg35Trp NC_000006.12:8041168:G:A p.(Arg35Trp) NC_000006.12:8041168:G:A p.(Arg35Trp) NC_000006.12:8041168:G:A Identity +NM_006345.4:c.857G>A NP_006336.3:p.Gly286Asp NC_000004.12:42060206:G:A p.(Gly286Asp) NC_000004.12:42060206:G:A p.(Gly286Asp) NC_000004.12:42060206:G:A Identity +NM_001076785.3:c.581C>T NP_001070253.1:p.Thr194Met NC_000016.10:68287802:C:T p.(Thr194Met) NC_000016.10:68287802:C:T p.(Thr194Met) NC_000016.10:68287802:C:T Identity +NM_001137559.1:c.1463C>T NP_001131031.1:p.Ala488Val NC_000012.12:121318370:G:A p.(Ala488Val) NC_000012.12:121318370:G:A p.(Ala488Val) NC_000012.12:121318370:G:A Identity +NM_015111.2:c.541G>T NP_055926.1:p.Gly181Cys NC_000005.10:178120387:G:T p.(Gly181Cys) NC_000005.10:178120387:G:T p.(Gly181Cys) NC_000005.10:178120387:G:T Identity +NM_173484.4:c.800G>A NP_775755.3:p.Arg267Lys NC_000001.11:44130070:G:A p.(Arg267Lys) NC_000001.11:44130070:G:A p.(Arg267Lys) NC_000001.11:44130070:G:A Identity +NM_019086.6:c.173G>A NP_061959.2:p.Arg58Gln NC_000012.12:118095720:C:T p.(Arg58Gln) NC_000012.12:118095720:C:T p.(Arg58Gln) NC_000012.12:118095720:C:T Identity +NM_001122979.3:c.19G>T NP_001116451.1:p.Val7Leu NC_000001.11:206970106:C:A p.(Val7Leu) NC_000001.11:206970106:C:A p.(Val7Leu) NC_000001.11:206970106:C:A Identity +NM_001109662.4:c.10361C>G NP_001103132.4:p.Pro3454Arg NC_000012.12:112184634:G:C p.(Pro3454Arg) NC_000012.12:112184634:G:C p.(Pro3454Arg) NC_000012.12:112184634:G:C Identity +NM_001004356.3:c.1168A>T NP_001004356.1:p.Ile390Phe NC_000004.12:1024999:A:T p.(Ile390Phe) NC_000004.12:1024999:A:T p.(Ile390Phe) NC_000004.12:1024999:A:T Identity +NM_018842.5:c.1226C>A NP_061330.2:p.Thr409Asn NC_000007.14:98306453:G:T p.(Thr409Asn) NC_000007.14:98306453:G:T p.(Thr409Asn) NC_000007.14:98306453:G:T Identity +NM_001040118.3:c.2288G>A NP_001035207.1:p.Arg763His NC_000011.10:72701662:C:T p.(Arg763His) NC_000011.10:72701662:C:T p.(Arg763His) NC_000011.10:72701662:C:T Identity +NM_005850.5:c.602T>C NP_005841.1:p.Leu201Pro NC_000001.11:149926479:A:G p.(Leu201Pro) NC_000001.11:149926479:A:G p.(Leu201Pro) NC_000001.11:149926479:A:G Identity +NM_001387142.1:c.2354G>A NP_001374071.1:p.Arg785Gln NC_000015.10:78009030:C:T p.(Arg785Gln) NC_000015.10:78009030:C:T p.(Arg785Gln) NC_000015.10:78009030:C:T Identity +NM_001142415.2:c.875C>T NP_001135887.1:p.Pro292Leu NC_000004.12:106347627:C:T p.(Pro292Leu) NC_000004.12:106347627:C:T p.(Pro292Leu) NC_000004.12:106347627:C:T Identity +NM_014037.3:c.1556G>T NP_054756.2:p.Gly519Val NC_000019.10:49293888:C:A p.(Gly519Val) NC_000019.10:49293888:C:A p.(Gly519Val) NC_000019.10:49293888:C:A Identity +NM_080679.3:c.2302G>A NP_542410.2:p.Glu768Lys NC_000006.12:33173705:C:T p.(Glu768Lys) NC_000006.12:33173705:C:T p.(Glu768Lys) NC_000006.12:33173705:C:T Identity +NM_000180.4:c.1750C>G NP_000171.1:p.Leu584Val NC_000017.11:8012143:C:G p.(Leu584Val) NC_000017.11:8012143:C:G p.(Leu584Val) NC_000017.11:8012143:C:G Identity +NM_001098635.2:c.2117G>A NP_001092105.1:p.Arg706His NC_000017.11:28958131:C:T p.(Arg706His) NC_000017.11:28958131:C:T p.(Arg706His) NC_000017.11:28958131:C:T Identity +NM_001291285.3:c.9112A>G NP_001278214.1:p.Asn3038Asp NC_000004.12:125450121:A:G p.(Asn3038Asp) NC_000004.12:125450121:A:G p.(Asn3038Asp) NC_000004.12:125450121:A:G Identity +NM_001375986.1:c.586C>T NP_001362915.1:p.Arg196Cys NC_000002.12:190436614:C:T p.(Arg196Cys) NC_000002.12:190436614:C:T p.(Arg196Cys) NC_000002.12:190436614:C:T Identity +NM_007147.4:c.1904G>T NP_009078.1:p.Arg635Ile NC_000019.10:51588234:G:T p.(Arg635Ile) NC_000019.10:51588234:G:T p.(Arg635Ile) NC_000019.10:51588234:G:T Identity +NM_016267.4:c.293G>A NP_057351.1:p.Arg98His NC_000023.11:136548666:G:A p.(Arg98His) NC_000023.11:136548666:G:A p.(Arg98His) NC_000023.11:136548666:G:A Identity +NM_139265.4:c.1330G>T NP_644670.1:p.Val444Leu NC_000015.10:41900940:C:A p.(Val444Leu) NC_000015.10:41900940:C:A p.(Val444Leu) NC_000015.10:41900940:C:A Identity +NM_001286379.2:c.1573G>C NP_001273308.1:p.Asp525His NC_000006.12:170318926:G:C p.(Asp525His) NC_000006.12:170318926:G:C p.(Asp525His) NC_000006.12:170318926:G:C Identity +NM_001346100.2:c.662C>T NP_001333029.1:p.Thr221Ile NC_000019.10:41320415:C:T p.(Thr221Ile) NC_000019.10:41320415:C:T p.(Thr221Ile) NC_000019.10:41320415:C:T Identity +NM_001207047.3:c.170G>A NP_001193976.1:p.Arg57His NC_000020.11:3540244:G:A p.(Arg57His) NC_000020.11:3540244:G:A p.(Arg57His) NC_000020.11:3540244:G:A Identity +NM_003061.3:c.3665G>A NP_003052.2:p.Arg1222His NC_000010.11:97004737:C:T p.(Arg1222His) NC_000010.11:97004737:C:T p.(Arg1222His) NC_000010.11:97004737:C:T Identity +NM_001292018.4:c.479G>A NP_001278947.1:p.Arg160Gln NC_000017.11:78698862:C:T p.(Arg160Gln) NC_000017.11:78698862:C:T p.(Arg160Gln) NC_000017.11:78698862:C:T Identity +NM_004666.3:c.848A>T NP_004657.2:p.Asn283Ile NC_000006.12:132692562:T:A p.(Asn283Ile) NC_000006.12:132692562:T:A p.(Asn283Ile) NC_000006.12:132692562:T:A Identity +NM_001112726.3:c.3920A>G NP_001106197.1:p.Gln1307Arg NC_000014.9:104893016:A:G p.(Gln1307Arg) NC_000014.9:104893016:A:G p.(Gln1307Arg) NC_000014.9:104893016:A:G Identity +NM_006660.5:c.1391G>A NP_006651.2:p.Gly464Glu NC_000015.10:65155001:C:T p.(Gly464Glu) NC_000015.10:65155001:C:T p.(Gly464Glu) NC_000015.10:65155001:C:T Identity +NM_001284406.2:c.161G>T NP_001271335.1:p.Gly54Val NC_000003.12:12748752:C:A p.(Gly54Val) NC_000003.12:12748752:C:A p.(Gly54Val) NC_000003.12:12748752:C:A Identity +NM_032119.4:c.16082G>A NP_115495.3:p.Ser5361Asn NC_000005.10:90815621:G:A p.(Ser5361Asn) NC_000005.10:90815621:G:A p.(Ser5361Asn) NC_000005.10:90815621:G:A Identity +NM_001376262.1:c.3898C>T NP_001363191.1:p.Arg1300Trp NC_000011.10:64623027:G:A p.(Arg1300Trp) NC_000011.10:64623027:G:A p.(Arg1300Trp) NC_000011.10:64623027:G:A Identity +NM_001144026.3:c.1138C>T NP_001137498.1:p.Arg380Trp NC_000009.12:137215166:C:T p.(Arg380Trp) NC_000009.12:137215166:C:T p.(Arg380Trp) NC_000009.12:137215166:C:T Identity +NM_001319116.2:c.848A>G NP_001306045.1:p.Asn283Ser NC_000002.12:219384393:T:C p.(Asn283Ser) NC_000002.12:219384393:T:C p.(Asn283Ser) NC_000002.12:219384393:T:C Identity +NM_001197287.2:c.805G>A NP_001184216.2:p.Gly269Arg NC_000014.9:19713078:C:T p.(Gly269Arg) NC_000014.9:19713078:C:T p.(Gly269Arg) NC_000014.9:19713078:C:T Identity +NM_175747.2:c.547C>A NP_786923.1:p.Pro183Thr NC_000006.12:137493623:G:T p.(Pro183Thr) NC_000006.12:137493623:G:T p.(Pro183Thr) NC_000006.12:137493623:G:T Identity +NM_001194946.2:c.340G>C NP_001181875.2:p.Gly114Arg NC_000003.12:184317491:G:C p.(Gly114Arg) NC_000003.12:184317491:G:C p.(Gly114Arg) NC_000003.12:184317491:G:C Identity +NM_001017995.3:c.686T>C NP_001017995.1:p.Ile229Thr NC_000005.10:172353986:A:G p.(Ile229Thr) NC_000005.10:172353986:A:G p.(Ile229Thr) NC_000005.10:172353986:A:G Identity +NM_003886.3:c.781A>C NP_003877.2:p.Ile261Leu NC_000023.11:50193931:T:G p.(Ile261Leu) NC_000023.11:50193931:T:G p.(Ile261Leu) NC_000023.11:50193931:T:G Identity +NM_001033047.3:c.604G>A NP_001028219.1:p.Asp202Asn NC_000004.12:105940172:G:A p.(Asp202Asn) NC_000004.12:105940172:G:A p.(Asp202Asn) NC_000004.12:105940172:G:A Identity +NM_207370.4:c.1567C>T NP_997253.2:p.Pro523Ser NC_000001.11:6249600:G:A p.(Pro523Ser) NC_000001.11:6249600:G:A p.(Pro523Ser) NC_000001.11:6249600:G:A Identity +NM_018935.4:c.1304A>T NP_061758.1:p.Gln435Leu NC_000005.10:141246881:A:T p.(Gln435Leu) NC_000005.10:141246881:A:T p.(Gln435Leu) NC_000005.10:141246881:A:T Identity +NM_001384818.1:c.1568C>T NP_001371747.1:p.Ala523Val NC_000009.12:131464925:C:T p.(Ala523Val) NC_000009.12:131464925:C:T p.(Ala523Val) NC_000009.12:131464925:C:T Identity +NM_006045.3:c.1313C>T NP_006036.1:p.Ala438Val NC_000020.11:51657130:G:A p.(Ala438Val) NC_000020.11:51657130:G:A p.(Ala438Val) NC_000020.11:51657130:G:A Identity +NM_001270584.2:c.287C>A NP_001257513.1:p.Thr96Lys NC_000002.12:236497211:G:T p.(Thr96Lys) NC_000002.12:236497211:G:T p.(Thr96Lys) NC_000002.12:236497211:G:T Identity +NM_001013841.2:c.190A>T NP_001013863.1:p.Asn64Tyr NC_000019.10:4333800:T:A p.(Asn64Tyr) NC_000019.10:4333800:T:A p.(Asn64Tyr) NC_000019.10:4333800:T:A Identity +NM_001321038.2:c.1403G>A NP_001307967.1:p.Ser468Asn NC_000001.11:108918751:G:A p.(Ser468Asn) NC_000001.11:108918751:G:A p.(Ser468Asn) NC_000001.11:108918751:G:A Identity +NM_001122965.1:c.691T>C NP_001116437.1:p.Cys231Arg NC_000001.11:152156407:A:G p.(Cys231Arg) NC_000001.11:152156407:A:G p.(Cys231Arg) NC_000001.11:152156407:A:G Identity +NM_001134473.3:c.239G>T NP_001127945.1:p.Gly80Val NC_000016.10:85654401:G:T p.(Gly80Val) NC_000016.10:85654401:G:T p.(Gly80Val) NC_000016.10:85654401:G:T Identity +NM_014675.5:c.5660G>A NP_055490.4:p.Arg1887Gln NC_000001.11:16970642:G:A p.(Arg1887Gln) NC_000001.11:16970642:G:A p.(Arg1887Gln) NC_000001.11:16970642:G:A Identity +NM_001286527.3:c.1347G>C NP_001273456.2:p.Lys449Asn NC_000016.10:84442544:G:C p.(Lys449Asn) NC_000016.10:84442544:G:C p.(Lys449Asn) NC_000016.10:84442544:G:C Identity +NM_001080421.3:c.5092G>A NP_001073890.2:p.Gly1698Ser NC_000019.10:17606073:C:T p.(Gly1698Ser) NC_000019.10:17606073:C:T p.(Gly1698Ser) NC_000019.10:17606073:C:T Identity +NM_001201576.2:c.445G>A NP_001188505.1:p.Val149Met NC_000017.11:7393205:C:T p.(Val149Met) NC_000017.11:7393205:C:T p.(Val149Met) NC_000017.11:7393205:C:T Identity +NM_001145028.2:c.931C>T NP_001138500.2:p.Pro311Ser NC_000019.10:14054740:G:A p.(Pro311Ser) NC_000019.10:14054740:G:A p.(Pro311Ser) NC_000019.10:14054740:G:A Identity +NM_001197287.2:c.526A>G NP_001184216.2:p.Asn176Asp NC_000014.9:19713357:T:C p.(Asn176Asp) NC_000014.9:19713357:T:C p.(Asn176Asp) NC_000014.9:19713357:T:C Identity +NM_178857.6:c.3458T>C NP_849188.4:p.Ile1153Thr NC_000008.11:10610639:A:G p.(Ile1153Thr) NC_000008.11:10610639:A:G p.(Ile1153Thr) NC_000008.11:10610639:A:G Identity +NM_024836.3:c.1242G>C NP_079112.1:p.Gln414His NC_000001.11:248848515:G:C p.(Gln414His) NC_000001.11:248848515:G:C p.(Gln414His) NC_000001.11:248848515:G:C Identity +NM_198834.3:c.4643C>A NP_942131.1:p.Ala1548Glu NC_000017.11:37188409:G:T p.(Ala1548Glu) NC_000017.11:37188409:G:T p.(Ala1548Glu) NC_000017.11:37188409:G:T Identity +NM_001410893.1:c.1141G>A NP_001397822.1:p.Val381Met NC_000016.10:61817614:C:T p.(Val381Met) NC_000016.10:61817614:C:T p.(Val381Met) NC_000016.10:61817614:C:T Identity +NM_031898.3:c.287C>G NP_114104.1:p.Pro96Arg NC_000017.11:15331298:G:C p.(Pro96Arg) NC_000017.11:15331298:G:C p.(Pro96Arg) NC_000017.11:15331298:G:C Identity +NM_001130141.2:c.1026G>A NP_001123613.1:p.Met342Ile NC_000021.9:45941693:G:A p.(Met342Ile) NC_000021.9:45941693:G:A p.(Met342Ile) NC_000021.9:45941693:G:A Identity +NM_001032731.2:c.112G>A NP_001027903.1:p.Val38Met NC_000012.12:112978719:G:A p.(Val38Met) NC_000012.12:112978719:G:A p.(Val38Met) NC_000012.12:112978719:G:A Identity +NM_015114.3:c.282T>G NP_055929.1:p.Ile94Met NC_000012.12:132755032:A:C p.(Ile94Met) NC_000012.12:132755032:A:C p.(Ile94Met) NC_000012.12:132755032:A:C Identity +NM_001355120.2:c.1228G>A NP_001342049.1:p.Asp410Asn NC_000017.11:1883836:G:A p.(Asp410Asn) NC_000017.11:1883836:G:A p.(Asp410Asn) NC_000017.11:1883836:G:A Identity +NM_001300780.2:c.2629A>G NP_001287709.1:p.Ser877Gly NC_000005.10:116447127:T:C p.(Ser877Gly) NC_000005.10:116447127:T:C p.(Ser877Gly) NC_000005.10:116447127:T:C Identity +NM_001303143.2:c.1250T>G NP_001290072.1:p.Met417Arg NC_000004.12:2238702:A:C p.(Met417Arg) NC_000004.12:2238702:A:C p.(Met417Arg) NC_000004.12:2238702:A:C Identity +NM_001256876.3:c.3298A>G NP_001243805.1:p.Ile1100Val NC_000009.12:734799:A:G p.(Ile1100Val) NC_000009.12:734799:A:G p.(Ile1100Val) NC_000009.12:734799:A:G Identity +NM_001199492.2:c.185C>T NP_001186421.1:p.Ser62Leu NC_000010.11:110881415:C:T p.(Ser62Leu) NC_000010.11:110881415:C:T p.(Ser62Leu) NC_000010.11:110881415:C:T Identity +NM_001024957.2:c.187G>A NP_001020128.1:p.Glu63Lys NC_000011.10:66341575:C:T p.(Glu63Lys) NC_000011.10:66341575:C:T p.(Glu63Lys) NC_000011.10:66341575:C:T Identity +NM_001277174.2:c.376C>T NP_001264103.1:p.Arg126Trp NC_000014.9:23359594:G:A p.(Arg126Trp) NC_000014.9:23359594:G:A p.(Arg126Trp) NC_000014.9:23359594:G:A Identity +NM_001270520.2:c.1220G>T NP_001257449.1:p.Arg407Ile NC_000014.9:59326554:G:T p.(Arg407Ile) NC_000014.9:59326554:G:T p.(Arg407Ile) NC_000014.9:59326554:G:T Identity +NM_001382002.1:c.98G>A NP_001368931.1:p.Arg33His NC_000003.12:119677212:C:T p.(Arg33His) NC_000003.12:119677212:C:T p.(Arg33His) NC_000003.12:119677212:C:T Identity +NM_001024613.4:c.1393C>A NP_001019784.2:p.Pro465Thr NC_000007.14:122302031:G:T p.(Pro465Thr) NC_000007.14:122302031:G:T p.(Pro465Thr) NC_000007.14:122302031:G:T Identity +NM_001321449.1:c.499G>A NP_001308378.1:p.Asp167Asn NC_000019.10:50154723:C:T p.(Asp167Asn) NC_000019.10:50154723:C:T p.(Asp167Asn) NC_000019.10:50154723:C:T Identity +NM_001607.4:c.504G>C NP_001598.1:p.Leu168Phe NC_000003.12:38129330:C:G p.(Leu168Phe) NC_000003.12:38129330:C:G p.(Leu168Phe) NC_000003.12:38129330:C:G Identity +NM_015254.4:c.212A>G NP_056069.2:p.Glu71Gly NC_000008.11:29191007:T:C p.(Glu71Gly) NC_000008.11:29191007:T:C p.(Glu71Gly) NC_000008.11:29191007:T:C Identity +NM_152331.4:c.193G>A NP_689544.3:p.Ala65Thr NC_000014.9:73592151:G:A p.(Ala65Thr) NC_000014.9:73592151:G:A p.(Ala65Thr) NC_000014.9:73592151:G:A Identity +NM_015362.5:c.605C>T NP_056177.4:p.Ser202Phe NC_000017.11:7258600:C:T p.(Ser202Phe) NC_000017.11:7258600:C:T p.(Ser202Phe) NC_000017.11:7258600:C:T Identity +NM_005576.4:c.1492A>C NP_005567.2:p.Thr498Pro NC_000015.10:73947208:A:C p.(Thr498Pro) NC_000015.10:73947208:A:C p.(Thr498Pro) NC_000015.10:73947208:A:C Identity +NM_020719.3:c.3017C>T NP_065770.1:p.Pro1006Leu NC_000019.10:49597351:C:T p.(Pro1006Leu) NC_000019.10:49597351:C:T p.(Pro1006Leu) NC_000019.10:49597351:C:T Identity +NM_152228.3:c.886G>A NP_689414.2:p.Val296Met NC_000001.11:1332416:G:A p.(Val296Met) NC_000001.11:1332416:G:A p.(Val296Met) NC_000001.11:1332416:G:A Identity +NM_001171967.2:c.482C>T NP_001165438.1:p.Ala161Val NC_000018.10:80038607:C:T p.(Ala161Val) NC_000018.10:80038607:C:T p.(Ala161Val) NC_000018.10:80038607:C:T Identity +NM_001012729.2:c.349A>G NP_001012747.1:p.Ile117Val NC_000019.10:57158416:T:C p.(Ile117Val) NC_000019.10:57158416:T:C p.(Ile117Val) NC_000019.10:57158416:T:C Identity +NM_001354830.2:c.1451C>T NP_001341759.1:p.Pro484Leu NC_000011.10:7000264:G:A p.(Pro484Leu) NC_000011.10:7000264:G:A p.(Pro484Leu) NC_000011.10:7000264:G:A Identity +NM_001330311.2:c.1223C>T NP_001317240.1:p.Pro408Leu NC_000001.11:1338637:G:A p.(Pro408Leu) NC_000001.11:1338637:G:A p.(Pro408Leu) NC_000001.11:1338637:G:A Identity +NM_001141973.3:c.1891C>T NP_001135445.1:p.Arg631Cys NC_000001.11:16992341:G:A p.(Arg631Cys) NC_000001.11:16992341:G:A p.(Arg631Cys) NC_000001.11:16992341:G:A Identity +NM_001258329.1:c.1943G>A NP_001245258.1:p.Ser648Asn NC_000020.11:36209761:G:A p.(Ser648Asn) NC_000020.11:36209761:G:A p.(Ser648Asn) NC_000020.11:36209761:G:A Identity +NM_153443.5:c.1030C>T NP_703144.3:p.His344Tyr NC_000019.10:54735332:C:T p.(His344Tyr) NC_000019.10:54735332:C:T p.(His344Tyr) NC_000019.10:54735332:C:T Identity +NM_000540.3:c.2866A>G NP_000531.2:p.Lys956Glu NC_000019.10:38464717:A:G p.(Lys956Glu) NC_000019.10:38464717:A:G p.(Lys956Glu) NC_000019.10:38464717:A:G Identity +NM_001099415.3:c.2848G>A NP_001092885.2:p.Val950Ile NC_000007.14:75419337:C:T p.(Val950Ile) NC_000007.14:75419337:C:T p.(Val950Ile) NC_000007.14:75419337:C:T Identity +NM_016519.6:c.147G>C NP_057603.1:p.Gln49His NC_000004.12:70598366:G:C p.(Gln49His) NC_000004.12:70598366:G:C p.(Gln49His) NC_000004.12:70598366:G:C Identity +NM_001320559.2:c.1382C>T NP_001307488.1:p.Thr461Ile NC_000003.12:39143502:G:A p.(Thr461Ile) NC_000003.12:39143502:G:A p.(Thr461Ile) NC_000003.12:39143502:G:A Identity +NM_003263.4:c.574C>G NP_003254.2:p.Leu192Val NC_000004.12:38798257:G:C p.(Leu192Val) NC_000004.12:38798257:G:C p.(Leu192Val) NC_000004.12:38798257:G:C Identity +NM_003110.6:c.560C>T NP_003101.3:p.Ser187Leu NC_000017.11:47916630:C:T p.(Ser187Leu) NC_000017.11:47916630:C:T p.(Ser187Leu) NC_000017.11:47916630:C:T Identity +NM_022171.3:c.215G>A NP_071503.1:p.Gly72Asp NC_000003.12:49413055:G:A p.(Gly72Asp) NC_000003.12:49413055:G:A p.(Gly72Asp) NC_000003.12:49413055:G:A Identity +NM_001007248.3:c.1326G>C NP_001007249.1:p.Met442Ile NC_000019.10:34759474:C:G p.(Met442Ile) NC_000019.10:34759474:C:G p.(Met442Ile) NC_000019.10:34759474:C:G Identity +NM_033510.3:c.755G>A NP_277045.1:p.Arg252Lys NC_000015.10:40365181:G:A p.(Arg252Lys) NC_000015.10:40365181:G:A p.(Arg252Lys) NC_000015.10:40365181:G:A Identity +NM_001008489.4:c.5A>G NP_001008489.1:p.Lys2Arg NC_000002.12:169700975:A:G p.(Lys2Arg) NC_000002.12:169700975:A:G p.(Lys2Arg) NC_000002.12:169700975:A:G Identity +NM_052831.3:c.938C>T NP_439896.1:p.Thr313Ile NC_000006.12:132774272:G:A p.(Thr313Ile) NC_000006.12:132774272:G:A p.(Thr313Ile) NC_000006.12:132774272:G:A Identity +NM_000525.4:c.26C>T NP_000516.3:p.Pro9Leu NC_000011.10:17388065:G:A p.(Pro9Leu) NC_000011.10:17388065:G:A p.(Pro9Leu) NC_000011.10:17388065:G:A Identity +NM_001083116.3:c.1615C>T NP_001076585.1:p.Pro539Ser NC_000010.11:70598105:G:A p.(Pro539Ser) NC_000010.11:70598105:G:A p.(Pro539Ser) NC_000010.11:70598105:G:A Identity +NM_153256.4:c.1055T>C NP_694988.3:p.Leu352Pro NC_000010.11:11870152:T:C p.(Leu352Pro) NC_000010.11:11870152:T:C p.(Leu352Pro) NC_000010.11:11870152:T:C Identity +NM_001347887.2:c.31T>C NP_001334816.1:p.Phe11Leu NC_000005.10:112419008:A:G p.(Phe11Leu) NC_000005.10:112419008:A:G p.(Phe11Leu) NC_000005.10:112419008:A:G Identity +NM_004581.5:c.1609C>T NP_004572.3:p.Leu537Phe NC_000014.9:24265709:G:A p.(Leu537Phe) NC_000014.9:24265709:G:A p.(Leu537Phe) NC_000014.9:24265709:G:A Identity +NM_001369657.1:c.470G>A NP_001356586.1:p.Arg157His NC_000016.10:67992113:C:T p.(Arg157His) NC_000016.10:67992113:C:T p.(Arg157His) NC_000016.10:67992113:C:T Identity +NM_005977.4:c.442C>T NP_005968.1:p.Arg148Trp NC_000013.11:26215439:G:A p.(Arg148Trp) NC_000013.11:26215439:G:A p.(Arg148Trp) NC_000013.11:26215439:G:A Identity +NM_015719.4:c.4051C>T NP_056534.2:p.Pro1351Ser NC_000019.10:9969621:G:A p.(Pro1351Ser) NC_000019.10:9969621:G:A p.(Pro1351Ser) NC_000019.10:9969621:G:A Identity +NM_001145938.2:c.1203G>T NP_001139410.1:p.Arg401Ser NC_000011.10:102790420:C:A p.(Arg401Ser) NC_000011.10:102790420:C:A p.(Arg401Ser) NC_000011.10:102790420:C:A Identity +NM_000680.4:c.22G>T NP_000671.2:p.Ala8Ser NC_000008.11:26864947:C:A p.(Ala8Ser) NC_000008.11:26864947:C:A p.(Ala8Ser) NC_000008.11:26864947:C:A Identity +NM_001005274.1:c.387C>G NP_001005274.1:p.His129Gln NC_000011.10:55343586:C:G p.(His129Gln) NC_000011.10:55343586:C:G p.(His129Gln) NC_000011.10:55343586:C:G Identity +NM_001172663.2:c.803G>T NP_001166134.1:p.Ser268Ile NC_000016.10:627578:G:T p.(Ser268Ile) NC_000016.10:627578:G:T p.(Ser268Ile) NC_000016.10:627578:G:T Identity +NM_001069.3:c.1076G>A NP_001060.1:p.Arg359His NC_000006.12:3154124:C:T p.(Arg359His) NC_000006.12:3154124:C:T p.(Arg359His) NC_000006.12:3154124:C:T Identity +NM_001171157.2:c.491G>T NP_001164628.1:p.Cys164Phe NC_000019.10:51416880:C:A p.(Cys164Phe) NC_000019.10:51416880:C:A p.(Cys164Phe) NC_000019.10:51416880:C:A Identity +NM_080823.4:c.448G>C NP_543013.1:p.Glu150Gln NC_000020.11:63544256:C:G p.(Glu150Gln) NC_000020.11:63544256:C:G p.(Glu150Gln) NC_000020.11:63544256:C:G Identity +NM_016333.4:c.1996C>T NP_057417.3:p.Arg666Cys NC_000016.10:2762523:C:T p.(Arg666Cys) NC_000016.10:2762523:C:T p.(Arg666Cys) NC_000016.10:2762523:C:T Identity +NM_001330519.2:c.1832G>A NP_001317448.1:p.Arg611Gln NC_000019.10:42080167:G:A p.(Arg611Gln) NC_000019.10:42080167:G:A p.(Arg611Gln) NC_000019.10:42080167:G:A Identity +NM_001005408.2:c.1138A>G NP_001005408.1:p.Ile380Val NC_000017.11:7326502:T:C p.(Ile380Val) NC_000017.11:7326502:T:C p.(Ile380Val) NC_000017.11:7326502:T:C Identity +NM_173527.3:c.880G>A NP_775798.2:p.Gly294Ser NC_000014.9:22886765:G:A p.(Gly294Ser) NC_000014.9:22886765:G:A p.(Gly294Ser) NC_000014.9:22886765:G:A Identity +NM_001001788.4:c.434G>A NP_001001788.2:p.Gly145Glu NC_000006.12:149919239:C:T p.(Gly145Glu) NC_000006.12:149919239:C:T p.(Gly145Glu) NC_000006.12:149919239:C:T Identity +NM_138440.3:c.409C>T NP_612449.2:p.Arg137Cys NC_000016.10:4381285:C:T p.(Arg137Cys) NC_000016.10:4381285:C:T p.(Arg137Cys) NC_000016.10:4381285:C:T Identity +NM_001282795.2:c.119A>G NP_001269724.1:p.Tyr40Cys NC_000008.11:144829559:A:G p.(Tyr40Cys) NC_000008.11:144829559:A:G p.(Tyr40Cys) NC_000008.11:144829559:A:G Identity +NM_001159524.1:c.680G>A NP_001152996.1:p.Ser227Asn NC_000007.14:64219730:G:A p.(Ser227Asn) NC_000007.14:64219730:G:A p.(Ser227Asn) NC_000007.14:64219730:G:A Identity +NM_019112.4:c.4546C>T NP_061985.2:p.Pro1516Ser NC_000019.10:1056458:C:T p.(Pro1516Ser) NC_000019.10:1056458:C:T p.(Pro1516Ser) NC_000019.10:1056458:C:T Identity +NM_001367089.1:c.2438C>T NP_001354018.1:p.Ala813Val NC_000020.11:3696830:G:A p.(Ala813Val) NC_000020.11:3696830:G:A p.(Ala813Val) NC_000020.11:3696830:G:A Identity +NM_172347.3:c.1048C>A NP_758857.1:p.Leu350Met NC_000016.10:84222728:G:T p.(Leu350Met) NC_000016.10:84222728:G:T p.(Leu350Met) NC_000016.10:84222728:G:T Identity +NM_001317231.2:c.116T>C NP_001304160.1:p.Ile39Thr NC_000011.10:47639022:A:G p.(Ile39Thr) NC_000011.10:47639022:A:G p.? NC_000011.10:47639022:A:G Identity +NM_005646.4:c.1448G>T NP_005637.3:p.Cys483Phe NC_000001.11:234460347:C:A p.(Cys483Phe) NC_000001.11:234460347:C:A p.(Cys483Phe) NC_000001.11:234460347:C:A Identity +NM_006507.4:c.262A>G NP_006498.1:p.Ile88Val NC_000002.12:79086425:T:C p.(Ile88Val) NC_000002.12:79086425:T:C p.(Ile88Val) NC_000002.12:79086425:T:C Identity +NM_001366177.2:c.8590A>C NP_001353106.1:p.Ile2864Leu NC_000001.11:155338316:T:G p.(Ile2864Leu) NC_000001.11:155338316:T:G p.(Ile2864Leu) NC_000001.11:155338316:T:G Identity +NM_001190809.2:c.317G>A NP_001177738.1:p.Arg106His NC_000020.11:38988876:G:A p.(Arg106His) NC_000020.11:38988876:G:A p.(Arg106His) NC_000020.11:38988876:G:A Identity +NM_000576.3:c.303A>T NP_000567.1:p.Glu101Asp NC_000002.12:112832824:T:A p.(Glu101Asp) NC_000002.12:112832824:T:A p.(Glu101Asp) NC_000002.12:112832824:T:A Identity +NM_001199865.2:c.853G>A NP_001186794.1:p.Val285Ile NC_000020.11:16506036:C:T p.(Val285Ile) NC_000020.11:16506036:C:T p.(Val285Ile) NC_000020.11:16506036:C:T Identity +NM_001281739.3:c.1962G>C NP_001268668.1:p.Leu654Phe NC_000018.10:36717835:G:C p.(Leu654Phe) NC_000018.10:36717835:G:C p.(Leu654Phe) NC_000018.10:36717835:G:C Identity +NM_001308097.2:c.1928T>G NP_001295026.1:p.Ile643Arg NC_000014.9:30616478:T:G p.(Ile643Arg) NC_000014.9:30616478:T:G p.(Ile643Arg) NC_000014.9:30616478:T:G Identity +NM_005560.6:c.1273G>A NP_005551.3:p.Val425Ile NC_000020.11:62346514:C:T p.(Val425Ile) NC_000020.11:62346514:C:T p.(Val425Ile) NC_000020.11:62346514:C:T Identity +NM_006456.3:c.56G>T NP_006447.2:p.Cys19Phe NC_000017.11:76585752:C:A p.(Cys19Phe) NC_000017.11:76585752:C:A p.(Cys19Phe) NC_000017.11:76585752:C:A Identity +NM_001164391.2:c.109G>C NP_001157863.1:p.Asp37His NC_000001.11:93115019:G:C p.(Asp37His) NC_000001.11:93115019:G:C p.(Asp37His) NC_000001.11:93115019:G:C Identity +NM_012324.6:c.727C>T NP_036456.1:p.Arg243Cys NC_000022.11:50604025:C:T p.(Arg243Cys) NC_000022.11:50604025:C:T p.(Arg243Cys) NC_000022.11:50604025:C:T Identity +NM_001300883.3:c.1181C>A NP_001287812.1:p.Pro394His NC_000019.10:9528749:G:T p.(Pro394His) NC_000019.10:9528749:G:T p.(Pro394His) NC_000019.10:9528749:G:T Identity +NM_015073.3:c.5105C>T NP_055888.1:p.Thr1702Ile NC_000019.10:38201981:C:T p.(Thr1702Ile) NC_000019.10:38201981:C:T p.(Thr1702Ile) NC_000019.10:38201981:C:T Identity +NM_001004479.2:c.574G>A NP_001004479.2:p.Ala192Thr NC_000014.9:20243394:G:A p.(Ala192Thr) NC_000014.9:20243394:G:A p.(Ala192Thr) NC_000014.9:20243394:G:A Identity +NM_001048210.3:c.1348G>A NP_001041675.1:p.Ala450Thr NC_000001.11:108937111:C:T p.(Ala450Thr) NC_000001.11:108937111:C:T p.(Ala450Thr) NC_000001.11:108937111:C:T Identity +NM_171999.4:c.3424G>A NP_741996.2:p.Gly1142Ser NC_000018.10:78995414:G:A p.(Gly1142Ser) NC_000018.10:78995414:G:A p.(Gly1142Ser) NC_000018.10:78995414:G:A Identity +NM_001303233.2:c.517G>A NP_001290162.1:p.Gly173Arg NC_000015.10:88655501:G:A p.(Gly173Arg) NC_000015.10:88655501:G:A p.(Gly173Arg) NC_000015.10:88655501:G:A Identity +NM_015056.3:c.400C>G NP_055871.1:p.Arg134Gly NC_000021.9:43674677:C:G p.(Arg134Gly) NC_000021.9:43674677:C:G p.(Arg134Gly) NC_000021.9:43674677:C:G Identity +NM_001083961.2:c.2237C>G NP_001077430.1:p.Pro746Arg NC_000019.10:36092714:C:G p.(Pro746Arg) NC_000019.10:36092714:C:G p.(Pro746Arg) NC_000019.10:36092714:C:G Identity +NM_001002295.2:c.148C>T NP_001002295.1:p.Leu50Phe NC_000010.11:8055802:C:T p.(Leu50Phe) NC_000010.11:8055802:C:T p.(Leu50Phe) NC_000010.11:8055802:C:T Identity +NM_005024.3:c.734G>A NP_005015.1:p.Ser245Asn NC_000018.10:63933147:G:A p.(Ser245Asn) NC_000018.10:63933147:G:A p.(Ser245Asn) NC_000018.10:63933147:G:A Identity +NM_000037.4:c.3740A>C NP_000028.3:p.Lys1247Thr NC_000008.11:41692765:T:G p.(Lys1247Thr) NC_000008.11:41692765:T:G p.(Lys1247Thr) NC_000008.11:41692765:T:G Identity +NM_001080479.3:c.1565C>G NP_001073948.2:p.Thr522Ser NC_000005.10:73846404:C:G p.(Thr522Ser) NC_000005.10:73846404:C:G p.(Thr522Ser) NC_000005.10:73846404:C:G Identity +NM_001289002.2:c.1012A>G NP_001275931.1:p.Asn338Asp NC_000005.10:102459664:T:C p.(Asn338Asp) NC_000005.10:102459664:T:C p.(Asn338Asp) NC_000005.10:102459664:T:C Identity +NM_001393897.1:c.2290A>C NP_001380826.1:p.Asn764His NC_000007.14:132210950:T:G p.(Asn764His) NC_000007.14:132210950:T:G p.(Asn764His) NC_000007.14:132210950:T:G Identity +NM_020343.4:c.4760C>T NP_065076.2:p.Thr1587Ile NC_000020.11:20512608:G:A p.(Thr1587Ile) NC_000020.11:20512608:G:A p.(Thr1587Ile) NC_000020.11:20512608:G:A Identity +NM_000411.8:c.1556G>A NP_000402.3:p.Cys519Tyr NC_000021.9:36765135:C:T p.(Cys519Tyr) NC_000021.9:36765135:C:T p.(Cys519Tyr) NC_000021.9:36765135:C:T Identity +NM_001365891.2:c.619A>G NP_001352820.1:p.Arg207Gly NC_000010.11:114201498:A:G p.(Arg207Gly) NC_000010.11:114201498:A:G p.(Arg207Gly) NC_000010.11:114201498:A:G Identity +NM_017525.3:c.2798T>A NP_059995.2:p.Leu933His NC_000011.10:64832892:A:T p.(Leu933His) NC_000011.10:64832892:A:T p.(Leu933His) NC_000011.10:64832892:A:T Identity +NM_001008496.3:c.257A>C NP_001008496.2:p.His86Pro NC_000022.11:24758005:T:G p.(His86Pro) NC_000022.11:24758005:T:G p.(His86Pro) NC_000022.11:24758005:T:G Identity +NM_001004700.3:c.128T>A NP_001004700.2:p.Ile43Asn NC_000011.10:55604245:A:T p.(Ile43Asn) NC_000011.10:55604245:A:T p.(Ile43Asn) NC_000011.10:55604245:A:T Identity +NM_001142733.3:c.1451T>C NP_001136205.2:p.Leu484Ser NC_000003.12:57277900:A:G p.(Leu484Ser) NC_000003.12:57277900:A:G p.(Leu484Ser) NC_000003.12:57277900:A:G Identity +NM_001348187.2:c.930C>G NP_001335116.2:p.Asp310Glu NC_000020.11:49230247:C:G p.(Asp310Glu) NC_000020.11:49230247:C:G p.(Asp310Glu) NC_000020.11:49230247:C:G Identity +NM_001005329.2:c.584G>A NP_001005329.1:p.Arg195Lys NC_000011.10:4946516:C:T p.(Arg195Lys) NC_000011.10:4946516:C:T p.(Arg195Lys) NC_000011.10:4946516:C:T Identity +NM_001321225.2:c.2936C>T NP_001308154.1:p.Thr979Ile NC_000023.11:48823292:C:T p.(Thr979Ile) NC_000023.11:48823292:C:T p.(Thr979Ile) NC_000023.11:48823292:C:T Identity +NM_003620.4:c.1514del NP_003611.1:p.Asn505fs NC_000017.11:60663245:AAA:AA p.(Asn505ThrfsTer9) NC_000017.11:60663245:AAA:AA p.(Asn505ThrfsTer9) NC_000017.11:60663247:A: Analogous +NM_030960.3:c.448A>G NP_112222.1:p.Met150Val NC_000006.12:88058795:A:G p.(Met150Val) NC_000006.12:88058795:A:G p.(Met150Val) NC_000006.12:88058795:A:G Identity +NM_001131.3:c.184A>G NP_001122.2:p.Met62Val NC_000006.12:49852011:T:C p.(Met62Val) NC_000006.12:49852011:T:C p.(Met62Val) NC_000006.12:49852011:T:C Identity +NM_033414.3:c.905G>T NP_219482.1:p.Gly302Val NC_000005.10:16463251:C:A p.(Gly302Val) NC_000005.10:16463251:C:A p.(Gly302Val) NC_000005.10:16463251:C:A Identity +NM_019112.4:c.5434C>T NP_061985.2:p.Arg1812Cys NC_000019.10:1059055:C:T p.(Arg1812Cys) NC_000019.10:1059055:C:T p.(Arg1812Cys) NC_000019.10:1059055:C:T Identity +NM_000939.4:c.74G>A NP_000930.1:p.Arg25His NC_000002.12:25164698:C:T p.(Arg25His) NC_000002.12:25164698:C:T p.(Arg25His) NC_000002.12:25164698:C:T Identity +NM_001271748.2:c.611G>A NP_001258677.1:p.Arg204His NC_000023.11:55007001:G:A p.(Arg204His) NC_000023.11:55007001:G:A p.(Arg204His) NC_000023.11:55007001:G:A Identity +NM_001193489.2:c.79G>C NP_001180418.1:p.Asp27His NC_000015.10:49037714:C:G p.(Asp27His) NC_000015.10:49037714:C:G p.(Asp27His) NC_000015.10:49037714:C:G Identity +NM_000934.4:c.36G>C NP_000925.2:p.Trp12Cys NC_000017.11:1745030:G:C p.(Trp12Cys) NC_000017.11:1745030:G:C p.(Trp12Cys) NC_000017.11:1745030:G:C Identity +NM_000448.3:c.76T>C NP_000439.2:p.Ser26Pro NC_000011.10:36573379:T:C p.(Ser26Pro) NC_000011.10:36573379:T:C p.(Ser26Pro) NC_000011.10:36573379:T:C Identity +NM_020825.4:c.3422A>C NP_065876.3:p.His1141Pro NC_000016.10:1669087:A:C p.(His1141Pro) NC_000016.10:1669087:A:C p.(His1141Pro) NC_000016.10:1669087:A:C Identity +NM_022365.4:c.1487C>T NP_071760.2:p.Pro496Leu NC_000010.11:21759278:G:A p.(Pro496Leu) NC_000010.11:21759278:G:A p.(Pro496Leu) NC_000010.11:21759278:G:A Identity +NM_001198.4:c.1460T>C NP_001189.2:p.Val487Ala NC_000006.12:106105619:T:C p.(Val487Ala) NC_000006.12:106105619:T:C p.(Val487Ala) NC_000006.12:106105619:T:C Identity +NM_001198989.2:c.1186A>G NP_001185918.1:p.Ile396Val NC_000020.11:35669656:T:C p.(Ile396Val) NC_000020.11:35669656:T:C p.(Ile396Val) NC_000020.11:35669656:T:C Identity +NM_006328.4:c.622C>T NP_006319.1:p.Pro208Ser NC_000011.10:66624497:C:T p.(Pro208Ser) NC_000011.10:66624497:C:T p.(Pro208Ser) NC_000011.10:66624497:C:T Identity +NM_001136505.2:c.1532A>G NP_001129977.1:p.Asn511Ser NC_000016.10:66770049:T:C p.(Asn511Ser) NC_000016.10:66770049:T:C p.(Asn511Ser) NC_000016.10:66770049:T:C Identity +NM_001080527.2:c.4093C>A NP_001073996.1:p.Pro1365Thr NC_000002.12:127625490:C:A p.(Pro1365Thr) NC_000002.12:127625490:C:A p.(Pro1365Thr) NC_000002.12:127625490:C:A Identity +NM_002916.5:c.805A>G NP_002907.1:p.Ile269Val NC_000003.12:186790402:T:C p.(Ile269Val) NC_000003.12:186790402:T:C p.(Ile269Val) NC_000003.12:186790402:T:C Identity +NM_001110781.3:c.994G>A NP_001104251.1:p.Val332Met NC_000001.11:1666005:C:T p.(Val332Met) NC_000001.11:1666005:C:T p.(Val332Met) NC_000001.11:1666005:C:T Identity +NM_001031683.4:c.1387C>T NP_001026853.1:p.Leu463Phe NC_000010.11:89340041:C:T p.(Leu463Phe) NC_000010.11:89340041:C:T p.(Leu463Phe) NC_000010.11:89340041:C:T Identity +NM_001198542.1:c.1726C>T NP_001185471.1:p.Pro576Ser NC_000016.10:71088325:G:A p.(Pro576Ser) NC_000016.10:71088325:G:A p.(Pro576Ser) NC_000016.10:71088325:G:A Identity +NM_001003398.3:c.65A>G NP_001003398.1:p.Lys22Arg NC_000012.12:32107395:A:G p.(Lys22Arg) NC_000012.12:32107395:A:G p.(Lys22Arg) NC_000012.12:32107395:A:G Identity +NM_207322.3:c.53G>A NP_997205.2:p.Gly18Glu NC_000015.10:62067665:G:A p.(Gly18Glu) NC_000015.10:62067665:G:A p.(Gly18Glu) NC_000015.10:62067665:G:A Identity +NM_002841.4:c.2327G>A NP_002832.3:p.Arg776His NC_000003.12:62231262:G:A p.(Arg776His) NC_000003.12:62231262:G:A p.(Arg776His) NC_000003.12:62231262:G:A Identity +NM_003417.5:c.1232G>A NP_003408.1:p.Arg411Gln NC_000019.10:57212328:G:A p.(Arg411Gln) NC_000019.10:57212328:G:A p.(Arg411Gln) NC_000019.10:57212328:G:A Identity +NM_001145293.2:c.1482A>C NP_001138765.1:p.Gln494His NC_000003.12:25729207:T:G p.(Gln494His) NC_000003.12:25729207:T:G p.(Gln494His) NC_000003.12:25729207:T:G Identity +NM_001363493.2:c.2357G>A NP_001350422.1:p.Arg786Gln NC_000007.14:100866216:G:A p.(Arg786Gln) NC_000007.14:100866216:G:A p.(Arg786Gln) NC_000007.14:100866216:G:A Identity +NM_000080.4:c.457A>T NP_000071.1:p.Thr153Ser NC_000017.11:4901974:T:A p.(Thr153Ser) NC_000017.11:4901974:T:A p.(Thr153Ser) NC_000017.11:4901974:T:A Identity +NM_001367624.2:c.8209G>A NP_001354553.1:p.Gly2737Ser NC_000016.10:88435678:G:A p.(Gly2737Ser) NC_000016.10:88435678:G:A p.(Gly2737Ser) NC_000016.10:88435678:G:A Identity +NM_152718.2:c.184G>C NP_689931.2:p.Gly62Arg NC_000011.10:61291502:C:G p.(Gly62Arg) NC_000011.10:61291502:C:G p.(Gly62Arg) NC_000011.10:61291502:C:G Identity +NM_152701.5:c.11810T>A NP_689914.3:p.Leu3937Gln NC_000007.14:48392075:T:A p.(Leu3937Gln) NC_000007.14:48392075:T:A p.(Leu3937Gln) NC_000007.14:48392075:T:A Identity +NM_004514.4:c.493C>G NP_004505.2:p.Gln165Glu NC_000017.11:82563426:C:G p.(Gln165Glu) NC_000017.11:82563426:C:G p.(Gln165Glu) NC_000017.11:82563426:C:G Identity +NM_001142289.3:c.481G>A NP_001135761.2:p.Val161Ile NC_000016.10:4657282:G:A p.(Val161Ile) NC_000016.10:4657282:G:A p.(Val161Ile) NC_000016.10:4657282:G:A Identity +NM_173602.3:c.2962C>T NP_775873.2:p.His988Tyr NC_000012.12:50718954:C:T p.(His988Tyr) NC_000012.12:50718954:C:T p.(His988Tyr) NC_000012.12:50718954:C:T Identity +NM_001080493.4:c.539G>A NP_001073962.1:p.Arg180Gln NC_000019.10:11722994:C:T p.(Arg180Gln) NC_000019.10:11722994:C:T p.(Arg180Gln) NC_000019.10:11722994:C:T Identity +NM_001411128.1:c.1858G>C NP_001398057.1:p.Gly620Arg NC_000017.11:45242118:G:C p.(Gly620Arg) NC_000017.11:45242118:G:C p.(Gly620Arg) NC_000017.11:45242118:G:C Identity +NM_001411058.1:c.2126C>G NP_001397987.1:p.Ala709Gly NC_000010.11:103419556:C:G p.(Ala709Gly) NC_000010.11:103419556:C:G p.(Ala709Gly) NC_000010.11:103419556:C:G Identity +NM_153209.4:c.1999A>T NP_694941.2:p.Ile667Phe NC_000017.11:74352838:A:T p.(Ile667Phe) NC_000017.11:74352838:A:T p.(Ile667Phe) NC_000017.11:74352838:A:T Identity +NM_004097.3:c.394C>T NP_004088.2:p.Pro132Ser NC_000002.12:72918245:C:T p.(Pro132Ser) NC_000002.12:72918245:C:T p.(Pro132Ser) NC_000002.12:72918245:C:T Identity +NM_015094.3:c.473G>A NP_055909.2:p.Arg158Gln NC_000022.11:21445367:G:A p.(Arg158Gln) NC_000022.11:21445367:G:A p.(Arg158Gln) NC_000022.11:21445367:G:A Identity +NM_001009615.3:c.113A>G NP_001009615.1:p.Lys38Arg NC_000023.11:143712464:T:C p.(Lys38Arg) NC_000023.11:143712464:T:C p.(Lys38Arg) NC_000023.11:143712464:T:C Identity +NM_001168683.2:c.439C>G NP_001162154.1:p.Leu147Val NC_000023.11:16829740:C:G p.(Leu147Val) NC_000023.11:16829740:C:G p.(Leu147Val) NC_000023.11:16829740:C:G Identity +NM_007186.6:c.1381C>T NP_009117.2:p.Leu461Phe NC_000020.11:35473544:C:T p.(Leu461Phe) NC_000020.11:35473544:C:T p.(Leu461Phe) NC_000020.11:35473544:C:T Identity +NM_001080409.3:c.1397C>T NP_001073878.2:p.Ser466Leu NC_000019.10:22758511:G:A p.(Ser466Leu) NC_000019.10:22758511:G:A p.(Ser466Leu) NC_000019.10:22758511:G:A Identity +NM_001321768.2:c.569G>A NP_001308697.1:p.Cys190Tyr NC_000019.10:56524857:G:A p.(Cys190Tyr) NC_000019.10:56524857:G:A p.(Cys190Tyr) NC_000019.10:56524857:G:A Identity +NM_001282534.2:c.914A>G NP_001269463.1:p.Gln305Arg NC_000008.11:139618468:T:C p.(Gln305Arg) NC_000008.11:139618468:T:C p.(Gln305Arg) NC_000008.11:139618468:T:C Identity +NM_015180.6:c.311G>A NP_055995.4:p.Arg104Gln NC_000014.9:63941957:G:A p.(Arg104Gln) NC_000014.9:63941957:G:A p.(Arg104Gln) NC_000014.9:63941957:G:A Identity +NM_015378.4:c.553G>A NP_056193.2:p.Val185Met NC_000001.11:12249327:G:A p.(Val185Met) NC_000001.11:12249327:G:A p.(Val185Met) NC_000001.11:12249327:G:A Identity +NM_001286771.3:c.1981A>T NP_001273700.1:p.Ile661Phe NC_000004.12:73141752:T:A p.(Ile661Phe) NC_000004.12:73141752:T:A p.(Ile661Phe) NC_000004.12:73141752:T:A Identity +NM_020122.5:c.116G>C NP_064507.3:p.Ser39Thr NC_000002.12:85027987:G:C p.(Ser39Thr) NC_000002.12:85027987:G:C p.(Ser39Thr) NC_000002.12:85027987:G:C Identity +NM_001193621.3:c.594A>G NP_001180550.2:p.Ile198Met NC_000019.10:43581979:A:G p.(Ile198Met) NC_000019.10:43581979:A:G p.(Ile198Met) NC_000019.10:43581979:A:G Identity +NM_001317056.2:c.185C>T NP_001303985.1:p.Ser62Phe NC_000007.14:151024238:G:A p.(Ser62Phe) NC_000007.14:151024238:G:A p.(Ser62Phe) NC_000007.14:151024238:G:A Identity +NM_001406365.1:c.4997A>G NP_001393294.1:p.Asn1666Ser NC_000010.11:68681483:A:G p.(Asn1666Ser) NC_000010.11:68681483:A:G p.(Asn1666Ser) NC_000010.11:68681483:A:G Identity +NM_001321851.1:c.2379C>A NP_001308780.1:p.Asp793Glu NC_000014.9:92005593:G:T p.(Asp793Glu) NC_000014.9:92005593:G:T p.(Asp793Glu) NC_000014.9:92005593:G:T Identity +NM_001657.4:c.469G>A NP_001648.1:p.Gly157Arg NC_000004.12:74449204:G:A p.(Gly157Arg) NC_000004.12:74449204:G:A p.(Gly157Arg) NC_000004.12:74449204:G:A Identity +NM_001166426.3:c.235G>A NP_001159898.1:p.Val79Met NC_000023.11:48599704:G:A p.(Val79Met) NC_000023.11:48599704:G:A p.(Val79Met) NC_000023.11:48599704:G:A Identity +NM_021201.5:c.518A>T NP_067024.1:p.Asp173Val NC_000011.10:60389567:A:T p.(Asp173Val) NC_000011.10:60389567:A:T p.(Asp173Val) NC_000011.10:60389567:A:T Identity +NM_001278503.2:c.1286A>C NP_001265432.1:p.Tyr429Ser NC_000011.10:125612667:A:C p.(Tyr429Ser) NC_000011.10:125612667:A:C p.(Tyr429Ser) NC_000011.10:125612667:A:C Identity +NM_001396855.1:c.500T>A NP_001383784.1:p.Met167Lys NC_000001.11:156595825:A:T p.(Met167Lys) NW_025791758.1:154384:A:T p.(Met167Lys) NC_000001.11:154384:G:T Identity +NM_001447.3:c.9880A>T NP_001438.1:p.Ser3294Cys NC_000005.10:151529323:T:A p.(Ser3294Cys) NC_000005.10:151529323:T:A p.(Ser3294Cys) NC_000005.10:151529323:T:A Identity +NM_001440.4:c.2518G>A NP_001431.1:p.Val840Ile NC_000008.11:28743181:G:A p.(Val840Ile) NC_000008.11:28743181:G:A p.(Val840Ile) NC_000008.11:28743181:G:A Identity +NM_001008226.2:c.577G>C NP_001008227.1:p.Gly193Arg NC_000015.10:82282441:G:C p.(Gly193Arg) NC_000015.10:82282441:G:C p.(Gly193Arg) NC_000015.10:82282441:G:C Identity +NM_145294.5:c.2445C>A NP_660337.3:p.Asp815Glu NC_000016.10:657192:C:A p.(Asp815Glu) NC_000016.10:657192:C:A p.(Asp815Glu) NC_000016.10:657192:C:A Identity +NM_003940.3:c.1234G>A NP_003931.2:p.Val412Met NC_000003.12:179730688:G:A p.(Val412Met) NC_000003.12:179730688:G:A p.(Val412Met) NC_000003.12:179730688:G:A Identity +NM_001080506.3:c.46T>C NP_001073975.1:p.Phe16Leu NC_000004.12:82504611:A:G p.(Phe16Leu) NC_000004.12:82504611:A:G p.(Phe16Leu) NC_000004.12:82504611:A:G Identity +NM_001447.3:c.12339C>A NP_001438.1:p.Asn4113Lys NC_000005.10:151507331:G:T p.(Asn4113Lys) NC_000005.10:151507331:G:T p.(Asn4113Lys) NC_000005.10:151507331:G:T Identity +NM_001164189.2:c.323C>T NP_001157661.1:p.Pro108Leu NC_000019.10:4859614:G:A p.(Pro108Leu) NC_000019.10:4859614:G:A p.(Pro108Leu) NC_000019.10:4859614:G:A Identity +NM_198148.3:c.131A>C NP_937791.2:p.Glu44Ala NC_000010.11:123891528:T:G p.(Glu44Ala) NC_000010.11:123891528:T:G p.(Glu44Ala) NC_000010.11:123891528:T:G Identity +NM_018899.6:c.1904T>C NP_061722.1:p.Val635Ala NC_000005.10:140968669:T:C p.(Val635Ala) NC_000005.10:140968669:T:C p.(Val635Ala) NC_000005.10:140968669:T:C Identity +NM_001143852.2:c.811G>C NP_001137324.1:p.Gly271Arg NC_000012.12:109908696:G:C p.(Gly271Arg) NC_000012.12:109908696:G:C p.(Gly271Arg) NC_000012.12:109908696:G:C Identity +NM_001077260.1:c.910T>C NP_001070728.1:p.Ser304Pro NC_000009.12:37777665:T:C ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found +NM_001207017.1:c.1279A>G NP_001193946.1:p.Thr427Ala NC_000022.11:31091139:A:G p.(Thr427Ala) NC_000022.11:31091139:A:G p.(Thr427Ala) NC_000022.11:31091139:A:G Identity +NM_018082.6:c.68T>C NP_060552.4:p.Val23Ala NC_000012.12:106357946:T:C p.(Val23Ala) NC_000012.12:106357946:T:C p.(Val23Ala) NC_000012.12:106357946:T:C Identity +NM_001242933.2:c.692C>A NP_001229862.1:p.Ser231Tyr NC_000015.10:64127212:C:A p.(Ser231Tyr) NC_000015.10:64127212:C:A p.(Ser231Tyr) NC_000015.10:64127212:C:A Identity +NM_003943.5:c.790G>C NP_003934.1:p.Val264Leu NC_000004.12:76309712:G:C p.(Val264Leu) NC_000004.12:76309712:G:C p.(Val264Leu) NC_000004.12:76309712:G:C Identity +NM_001207000.1:c.857C>T NP_001193929.1:p.Pro286Leu NC_000004.12:82427481:G:A p.(Pro286Leu) NC_000004.12:82427481:G:A p.(Pro286Leu) NC_000004.12:82427481:G:A Identity +NM_003185.4:c.719C>G NP_003176.2:p.Thr240Arg NC_000020.11:62065091:G:C p.(Thr240Arg) NC_000020.11:62065091:G:C p.(Thr240Arg) NC_000020.11:62065091:G:C Identity +NM_001185039.2:c.1684C>T NP_001171968.1:p.Arg562Cys NC_000017.11:75948387:G:A p.(Arg562Cys) NC_000017.11:75948387:G:A p.(Arg562Cys) NC_000017.11:75948387:G:A Identity +NM_025176.6:c.2478G>C NP_079452.3:p.Met826Ile NC_000020.11:25476812:C:G p.(Met826Ile) NC_000020.11:25476812:C:G p.(Met826Ile) NC_000020.11:25476812:C:G Identity +NM_001009811.4:c.256C>G NP_001009811.2:p.Arg86Gly NC_000017.11:81208943:G:C p.(Arg86Gly) NC_000017.11:81208943:G:C p.(Arg86Gly) NC_000017.11:81208943:G:C Identity +NM_001040451.3:c.65C>T NP_001035541.1:p.Ser22Leu NC_000005.10:179560102:C:T p.(Ser22Leu) NC_000005.10:179560102:C:T p.(Ser22Leu) NC_000005.10:179560102:C:T Identity +NM_001323916.2:c.2440T>A NP_001310845.1:p.Ser814Thr NC_000004.12:158869006:T:A p.(Ser814Thr) NC_000004.12:158869006:T:A p.(Ser814Thr) NC_000004.12:158869006:T:A Identity +NM_018927.4:c.557C>G NP_061750.1:p.Pro186Arg NC_000005.10:141418415:C:G p.(Pro186Arg) NC_000005.10:141418415:C:G p.(Pro186Arg) NC_000005.10:141418415:C:G Identity +NM_001145118.2:c.814G>C NP_001138590.1:p.Gly272Arg NC_000007.14:6526539:C:G p.(Gly272Arg) NC_000007.14:6526539:C:G p.(Gly272Arg) NC_000007.14:6526539:C:G Identity +NM_001146197.3:c.11369A>G NP_001139669.1:p.Gln3790Arg NC_000013.11:102739327:T:C p.(Gln3790Arg) NC_000013.11:102739327:T:C p.(Gln3790Arg) NC_000013.11:102739327:T:C Identity +NM_001243403.2:c.1472C>G NP_001230332.1:p.Ser491Cys NC_000016.10:11024909:C:G p.(Ser491Cys) NC_000016.10:11024909:C:G p.(Ser491Cys) NC_000016.10:11024909:C:G Identity +NM_012384.5:c.269T>C NP_036516.1:p.Ile90Thr NC_000020.11:63603052:A:G p.(Ile90Thr) NC_000020.11:63603052:A:G p.(Ile90Thr) NC_000020.11:63603052:A:G Identity +NM_001366519.1:c.610G>A NP_001353448.1:p.Ala204Thr NC_000014.9:34586302:C:T p.(Ala204Thr) NC_000014.9:34586302:C:T p.(Ala204Thr) NC_000014.9:34586302:C:T Identity +NM_030572.4:c.196C>T NP_085049.1:p.Arg66Trp NC_000012.12:21527776:C:T p.(Arg66Trp) NC_000012.12:21527776:C:T p.(Arg66Trp) NC_000012.12:21527776:C:T Identity +NM_001385678.1:c.832G>A NP_001372607.1:p.Ala278Thr NC_000019.10:4817503:C:T p.(Ala278Thr) NC_000019.10:4817503:C:T p.(Ala278Thr) NC_000019.10:4817503:C:T Identity +NM_001394553.1:c.352C>T NP_001381482.1:p.His118Tyr NC_000004.12:38829121:G:A p.(His118Tyr) NC_000004.12:38829121:G:A p.(His118Tyr) NC_000004.12:38829121:G:A Identity +NM_013938.2:c.547C>T NP_039226.1:p.Leu183Phe NC_000019.10:15741938:C:T p.(Leu183Phe) NC_000019.10:15741938:C:T p.(Leu183Phe) NC_000019.10:15741938:C:T Identity +NM_001167942.1:c.157C>T NP_001161414.1:p.Arg53Cys NC_000019.10:4652025:C:T p.(Arg53Cys) NC_000019.10:4652025:C:T p.(Arg53Cys) NC_000019.10:4652025:C:T Identity +NM_006747.4:c.2236C>G NP_006738.3:p.Gln746Glu NC_000011.10:65647587:C:G p.(Gln746Glu) NC_000011.10:65647587:C:G p.(Gln746Glu) NC_000011.10:65647587:C:G Identity +NM_000720.4:c.4381A>G NP_000711.1:p.Ile1461Val NC_000003.12:53776003:A:G p.(Ile1461Val) NC_000003.12:53776003:A:G p.(Ile1461Val) NC_000003.12:53776003:A:G Identity +NM_001080156.3:c.1552G>C NP_001073625.1:p.Glu518Gln NC_000012.12:57472608:C:G p.(Glu518Gln) NC_000012.12:57472608:C:G p.(Glu518Gln) NC_000012.12:57472608:C:G Identity +NM_001142546.4:c.3216T>G NP_001136018.1:p.Cys1072Trp NC_000001.11:23088909:A:C p.(Cys1072Trp) NC_000001.11:23088909:A:C p.(Cys1072Trp) NC_000001.11:23088909:A:C Identity +NM_000674.3:c.634A>G NP_000665.1:p.Asn212Asp NC_000001.11:203165552:A:G p.(Asn212Asp) NC_000001.11:203165552:A:G p.(Asn212Asp) NC_000001.11:203165552:A:G Identity +NM_001039500.3:c.2561T>C NP_001034589.2:p.Leu854Pro NC_000001.11:20343327:T:C p.(Leu854Pro) NC_000001.11:20343327:T:C p.(Leu854Pro) NC_000001.11:20343327:T:C Identity +NM_001412.4:c.265G>A NP_001403.1:p.Ala89Thr NC_000023.11:20132253:C:T p.(Ala89Thr) NC_000023.11:20132253:C:T p.(Ala89Thr) NC_000023.11:20132253:C:T Identity +NM_031209.3:c.383G>C NP_112486.1:p.Arg128Pro NC_000019.10:10702185:G:C p.(Arg128Pro) NC_000019.10:10702185:G:C p.(Arg128Pro) NC_000019.10:10702185:G:C Identity +NM_001003682.4:c.313G>A NP_001003682.1:p.Gly105Ser NC_000001.11:29121515:C:T p.(Gly105Ser) NC_000001.11:29121515:C:T p.(Gly105Ser) NC_000001.11:29121515:C:T Identity +NM_001365764.1:c.1018A>G NP_001352693.1:p.Ile340Val NC_000007.14:6145542:A:G p.(Ile340Val) NC_000007.14:6145542:A:G p.(Ile340Val) NC_000007.14:6145542:A:G Identity +NM_001110514.2:c.1859C>G NP_001103984.2:p.Pro620Arg NC_000020.11:2755644:C:G p.(Pro620Arg) NC_000020.11:2755644:C:G p.(Pro620Arg) NC_000020.11:2755644:C:G Identity +NM_001193451.2:c.2348A>G NP_001180380.1:p.Lys783Arg NC_000012.12:29514563:T:C p.(Lys783Arg) NC_000012.12:29514563:T:C p.(Lys783Arg) NC_000012.12:29514563:T:C Identity +NM_001145122.2:c.945A>T NP_001138594.1:p.Glu315Asp NC_000002.12:31194413:T:A p.(Glu315Asp) NC_000002.12:31194413:T:A p.(Glu315Asp) NC_000002.12:31194413:T:A Identity +NM_153840.4:c.1418G>A NP_722582.2:p.Arg473Lys NC_000006.12:47010016:C:T p.(Arg473Lys) NC_000006.12:47010016:C:T p.(Arg473Lys) NC_000006.12:47010016:C:T Identity +NM_001004127.3:c.182A>G NP_001004127.2:p.Asn61Ser NC_000013.11:52019049:A:G p.(Asn61Ser) NC_000013.11:52019049:A:G p.(Asn61Ser) NC_000013.11:52019049:A:G Identity +NM_015113.4:c.5833G>T NP_055928.3:p.Asp1945Tyr NC_000017.11:4050810:C:A p.(Asp1945Tyr) NC_000017.11:4050810:C:A p.(Asp1945Tyr) NC_000017.11:4050810:C:A Identity +NM_001005270.4:c.293A>C NP_001005270.3:p.Gln98Pro NC_000011.10:49982208:T:G p.(Gln98Pro) NC_000011.10:49982208:T:G p.(Gln98Pro) NC_000011.10:49982208:T:G Identity +NM_001171083.2:c.51_52del NP_001164554.1:p.Ala18fs NC_000002.12:130181549:CTC:C p.(Ala18AspfsTer10) NC_000002.12:130181549:CTC:C p.(Ala18AspfsTer10) NC_000002.12:130181549:CT: Analogous +NM_001329872.2:c.283C>T NP_001316801.1:p.Leu95Phe NC_000007.14:30912191:C:T p.(Leu95Phe) NC_000007.14:30912191:C:T p.(Leu95Phe) NC_000007.14:30912191:C:T Identity +NM_020410.3:c.2515C>T NP_065143.2:p.Arg839Cys NC_000019.10:19649760:G:A p.(Arg839Cys) NC_000019.10:19649760:G:A p.(Arg839Cys) NC_000019.10:19649760:G:A Identity +NM_016642.4:c.689G>A NP_057726.4:p.Arg230His NC_000015.10:41887411:C:T p.(Arg230His) NC_000015.10:41887411:C:T p.(Arg230His) NC_000015.10:41887411:C:T Identity +NM_001371426.1:c.823C>A NP_001358355.1:p.Pro275Thr NC_000002.12:207577596:C:A p.(Pro275Thr) NC_000002.12:207577596:C:A p.(Pro275Thr) NC_000002.12:207577596:C:A Identity +NM_001174152.2:c.449A>G NP_001167623.1:p.Asn150Ser NC_000009.12:125220622:A:G p.(Asn150Ser) NC_000009.12:125220622:A:G p.(Asn150Ser) NC_000009.12:125220622:A:G Identity +NM_015180.6:c.4857G>C NP_055995.4:p.Glu1619Asp NC_000014.9:64016600:G:C p.(Glu1619Asp) NC_000014.9:64016600:G:C p.(Glu1619Asp) NC_000014.9:64016600:G:C Identity +NM_001098627.4:c.815G>A NP_001092097.2:p.Cys272Tyr NC_000007.14:128947803:G:A p.(Cys272Tyr) NC_000007.14:128947803:G:A p.(Cys272Tyr) NC_000007.14:128947803:G:A Identity +NM_015174.2:c.2020G>A NP_055989.1:p.Val674Met NC_000019.10:3816756:C:T p.(Val674Met) NC_000019.10:3816756:C:T p.(Val674Met) NC_000019.10:3816756:C:T Identity +NM_001012508.6:c.331A>C NP_001012526.2:p.Asn111His NC_000010.11:133423350:T:G p.(Asn111His) NC_000010.11:133423350:T:G p.(Asn111His) NC_000010.11:133423350:T:G Identity +NM_001201457.2:c.2383G>A NP_001188386.1:p.Gly795Ser NC_000017.11:58598979:C:T p.(Gly795Ser) NC_000017.11:58598979:C:T p.(Gly795Ser) NC_000017.11:58598979:C:T Identity +NM_005698.4:c.922G>A NP_005689.2:p.Gly308Ser NC_000001.11:155256394:C:T p.(Gly308Ser) NC_000001.11:155256394:C:T p.(Gly308Ser) NC_000001.11:155256394:C:T Identity +NM_001286408.2:c.49C>G NP_001273337.1:p.Leu17Val NC_000006.12:107749746:G:C p.(Leu17Val) NC_000006.12:107749746:G:C p.(Leu17Val) NC_000006.12:107749746:G:C Identity +NM_001201545.2:c.1738C>G NP_001188474.1:p.Leu580Val NC_000001.11:110341142:C:G p.(Leu580Val) NC_000001.11:110341142:C:G p.(Leu580Val) NC_000001.11:110341142:C:G Identity +NM_001271816.2:c.41A>G NP_001258745.1:p.Lys14Arg NC_000010.11:113853141:T:C p.(Lys14Arg) NC_000010.11:113853141:T:C p.(Lys14Arg) NC_000010.11:113853141:T:C Identity +NM_000228.3:c.2599G>A NP_000219.2:p.Ala867Thr NC_000001.11:209622637:C:T p.(Ala867Thr) NC_000001.11:209622637:C:T p.(Ala867Thr) NC_000001.11:209622637:C:T Identity +NM_021994.3:c.17C>T NP_068834.2:p.Thr6Ile NC_000007.14:112206732:C:T p.(Thr6Ile) NC_000007.14:112206732:C:T p.(Thr6Ile) NC_000007.14:112206732:C:T Identity +NM_001350748.2:c.2024G>A NP_001337677.1:p.Cys675Tyr NC_000013.11:101143173:C:T p.(Cys675Tyr) NC_000013.11:101143173:C:T p.(Cys675Tyr) NC_000013.11:101143173:C:T Identity +NM_001184767.2:c.563C>A NP_001171696.1:p.Ser188Tyr NC_000023.11:18203844:G:T p.(Ser188Tyr) NC_000023.11:18203844:G:T p.(Ser188Tyr) NC_000023.11:18203844:G:T Identity +NM_001317985.2:c.1035G>T NP_001304914.1:p.Glu345Asp NC_000017.11:28859040:G:T p.(Glu345Asp) NC_000017.11:28859040:G:T p.(Glu345Asp) NC_000017.11:28859040:G:T Identity +NM_021076.4:c.1551G>C NP_066554.2:p.Lys517Asn NC_000022.11:29489190:G:C p.(Lys517Asn) NC_000022.11:29489190:G:C p.(Lys517Asn) NC_000022.11:29489190:G:C Identity +NM_030928.4:c.1354G>C NP_112190.2:p.Glu452Gln NC_000016.10:88807358:G:C p.(Glu452Gln) NC_000016.10:88807358:G:C p.(Glu452Gln) NC_000016.10:88807358:G:C Identity +NM_014675.5:c.5774A>C NP_055490.4:p.Gln1925Pro NC_000001.11:16970756:A:C p.(Gln1925Pro) NC_000001.11:16970756:A:C p.(Gln1925Pro) NC_000001.11:16970756:A:C Identity +NM_001301228.2:c.493A>C NP_001288157.1:p.Lys165Gln NC_000023.11:150987803:A:C p.(Lys165Gln) NC_000023.11:150987803:A:C p.(Lys165Gln) NC_000023.11:150987803:A:C Identity +NM_001146334.2:c.3635T>C NP_001139806.1:p.Leu1212Pro NC_000007.14:45082544:A:G p.(Leu1212Pro) NC_000007.14:45082544:A:G p.(Leu1212Pro) NC_000007.14:45082544:A:G Identity +NM_001007272.2:c.700C>G NP_001007273.1:p.Leu234Val NC_000010.11:75094722:G:C p.(Leu234Val) NC_000010.11:75094722:G:C p.(Leu234Val) NC_000010.11:75094722:G:C Identity +NM_002441.5:c.526T>C NP_002432.1:p.Cys176Arg NC_000006.12:31744013:T:C p.(Cys176Arg) NC_000006.12:31744013:T:C p.(Cys176Arg) NC_000006.12:31744013:T:C Identity +NM_001177381.2:c.1755T>G NP_001170852.1:p.His585Gln NC_000004.12:15007396:T:G p.(His585Gln) NC_000004.12:15007396:T:G p.(His585Gln) NC_000004.12:15007396:T:G Identity +NM_001031702.4:c.1244C>T NP_001026872.2:p.Pro415Leu NC_000003.12:122923644:G:A p.(Pro415Leu) NC_000003.12:122923644:G:A p.(Pro415Leu) NC_000003.12:122923644:G:A Identity +NM_001042366.2:c.1820G>T NP_001035825.1:p.Ser607Ile NC_000011.10:26671138:C:A ERR:Data provider error: ValueError: Transcript NM_001042366.2 not found ERR:Data provider error: ValueError: Transcript NM_001042366.2 not found ERR:AlignmentMapper(tx_ac=NM_001042366.2, alt_ac=NM_001042366.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001042366.2, alt_ac=NM_001042366.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001042366.2 not found +NM_005483.3:c.2374A>G NP_005474.2:p.Ile792Val NC_000019.10:4433239:A:G p.(Ile792Val) NC_000019.10:4433239:A:G p.(Ile792Val) NC_000019.10:4433239:A:G Identity +NM_001355008.2:c.512C>T NP_001341937.1:p.Pro171Leu NC_000020.11:35134804:G:A p.(Pro171Leu) NC_000020.11:35134804:G:A p.(Pro171Leu) NC_000020.11:35134804:G:A Identity +NM_138401.4:c.41G>A NP_612410.1:p.Gly14Asp NC_000019.10:17420175:G:A p.(Gly14Asp) NC_000019.10:17420175:G:A p.(Gly14Asp) NC_000019.10:17420175:G:A Identity +NM_001378328.1:c.8589G>T NP_001365257.1:p.Trp2863Cys NC_000022.11:46364701:C:A p.(Trp2863Cys) NC_000022.11:46364701:C:A p.(Trp2863Cys) NC_000022.11:46364701:C:A Identity +NM_018963.5:c.4383G>T NP_061836.2:p.Arg1461Ser NC_000021.9:39202526:C:A p.(Arg1461Ser) NC_000021.9:39202526:C:A p.(Arg1461Ser) NC_000021.9:39202526:C:A Identity +NM_001371403.1:c.3010G>C NP_001358332.1:p.Val1004Leu NC_000004.12:89936689:G:C p.(Val1004Leu) NC_000004.12:89936689:G:C p.(Val1004Leu) NC_000004.12:89936689:G:C Identity +NM_019601.4:c.2068A>G NP_062547.1:p.Asn690Asp NC_000022.11:24187746:A:G p.(Asn690Asp) NC_000022.11:24187746:A:G p.(Asn690Asp) NC_000022.11:24187746:A:G Identity +NM_001720.5:c.343G>T NP_001711.2:p.Asp115Tyr NC_000001.11:39775029:C:A p.(Asp115Tyr) NC_000001.11:39775029:C:A p.(Asp115Tyr) NC_000001.11:39775029:C:A Identity +NM_014729.3:c.522G>A NP_055544.1:p.Met174Ile NC_000008.11:58851694:C:T p.(Met174Ile) NC_000008.11:58851694:C:T p.(Met174Ile) NC_000008.11:58851694:C:T Identity +NM_003458.4:c.5531C>A NP_003449.2:p.Ala1844Asp NC_000003.12:49655086:C:A p.(Ala1844Asp) NC_000003.12:49655086:C:A p.(Ala1844Asp) NC_000003.12:49655086:C:A Identity +NM_005544.3:c.2162G>C NP_005535.1:p.Ser721Thr NC_000002.12:226796576:C:G p.(Ser721Thr) NC_000002.12:226796576:C:G p.(Ser721Thr) NC_000002.12:226796576:C:G Identity +NM_001142292.2:c.1004T>G NP_001135764.1:p.Phe335Cys NC_000002.12:96707331:A:C p.(Phe335Cys) NC_000002.12:96707331:A:C p.(Phe335Cys) NC_000002.12:96707331:A:C Identity +NM_004268.5:c.232G>T NP_004259.3:p.Asp78Tyr NC_000011.10:93784744:G:T p.(Asp78Tyr) NC_000011.10:93784744:G:T p.(Asp78Tyr) NC_000011.10:93784744:G:T Identity +NM_001039970.2:c.95C>T NP_001035059.1:p.Pro32Leu NC_000011.10:18765808:G:A p.(Pro32Leu) NC_000011.10:18765808:G:A p.(Pro32Leu) NC_000011.10:18765808:G:A Identity +NM_001005279.3:c.325T>A NP_001005279.1:p.Cys109Ser NC_000001.11:158700327:A:T p.(Cys109Ser) NC_000001.11:158700327:A:T p.(Cys109Ser) NC_000001.11:158700327:A:T Identity +NM_001126131.2:c.734T>A NP_001119603.1:p.Ile245Asn NC_000015.10:89330201:A:T p.(Ile245Asn) NC_000015.10:89330201:A:T p.(Ile245Asn) NC_000015.10:89330201:A:T Identity +NM_001284214.2:c.4603T>C NP_001271143.1:p.Tyr1535His NC_000002.12:229789621:A:G p.(Tyr1535His) NC_000002.12:229789621:A:G p.(Tyr1535His) NC_000002.12:229789621:A:G Identity +NM_001844.5:c.3395A>G NP_001835.3:p.His1132Arg NC_000012.12:47976851:T:C p.(His1132Arg) NC_000012.12:47976851:T:C p.(His1132Arg) NC_000012.12:47976851:T:C Identity +NM_001355016.2:c.670A>G NP_001341945.1:p.Thr224Ala NC_000005.10:150133657:T:C p.(Thr224Ala) NC_000005.10:150133657:T:C p.(Thr224Ala) NC_000005.10:150133657:T:C Identity +NM_000961.4:c.772A>T NP_000952.1:p.Ser258Cys NC_000020.11:49524140:T:A p.(Ser258Cys) NC_000020.11:49524140:T:A p.(Ser258Cys) NC_000020.11:49524140:T:A Identity +NM_002424.3:c.58G>A NP_002415.1:p.Ala20Thr NC_000011.10:102724797:C:T p.(Ala20Thr) NC_000011.10:102724797:C:T p.(Ala20Thr) NC_000011.10:102724797:C:T Identity +NM_014753.4:c.926A>G NP_055568.3:p.Asp309Gly NC_000010.11:42792980:A:G p.(Asp309Gly) NC_000010.11:42792980:A:G p.(Asp309Gly) NC_000010.11:42792980:A:G Identity +NM_024504.4:c.214C>T NP_078780.1:p.Arg72Trp NC_000008.11:70069646:G:A p.(Arg72Trp) NC_000008.11:70069646:G:A p.(Arg72Trp) NC_000008.11:70069646:G:A Identity +NM_002738.7:c.1243C>T NP_002729.2:p.Arg415Cys NC_000016.10:24172272:C:T p.(Arg415Cys) NC_000016.10:24172272:C:T p.(Arg415Cys) NC_000016.10:24172272:C:T Identity +NM_018557.3:c.4577A>G NP_061027.2:p.Gln1526Arg NC_000002.12:140867591:T:C p.(Gln1526Arg) NC_000002.12:140867591:T:C p.(Gln1526Arg) NC_000002.12:140867591:T:C Identity +NM_006080.3:c.2081G>A NP_006071.1:p.Ser694Asn NC_000007.14:83961605:C:T p.(Ser694Asn) NC_000007.14:83961605:C:T p.(Ser694Asn) NC_000007.14:83961605:C:T Identity +NM_001950.4:c.634C>T NP_001941.2:p.Pro212Ser NC_000016.10:67194805:C:T p.(Pro212Ser) NC_000016.10:67194805:C:T p.(Pro212Ser) NC_000016.10:67194805:C:T Identity +NM_000926.4:c.332T>C NP_000917.3:p.Leu111Pro NC_000011.10:101128738:A:G p.(Leu111Pro) NC_000011.10:101128738:A:G p.(Leu111Pro) NC_000011.10:101128738:A:G Identity +NM_198834.3:c.1858A>G NP_942131.1:p.Ile620Val NC_000017.11:37253004:T:C p.(Ile620Val) NC_000017.11:37253004:T:C p.(Ile620Val) NC_000017.11:37253004:T:C Identity +NM_001017956.3:c.902C>T NP_001017956.1:p.Pro301Leu NC_000012.12:57716420:C:T p.(Pro301Leu) NC_000012.12:57716420:C:T p.(Pro301Leu) NC_000012.12:57716420:C:T Identity +NM_001317916.2:c.2404G>T NP_001304845.1:p.Val802Leu NC_000009.12:66919969:G:T p.(Val802Leu) NC_000009.12:66919969:G:T p.(Val802Leu) NC_000009.12:66919969:G:T Identity +NM_024652.6:c.4510G>A NP_078928.3:p.Asp1504Asn NC_000015.10:101057032:G:A p.(Asp1504Asn) NC_000015.10:101057032:G:A p.(Asp1504Asn) NC_000015.10:101057032:G:A Identity +NM_001317062.2:c.472G>T NP_001303991.1:p.Val158Leu NC_000001.11:111447115:C:A p.(Val158Leu) NC_000001.11:111447115:C:A p.(Val158Leu) NC_000001.11:111447115:C:A Identity +NM_018109.4:c.1732A>G NP_060579.3:p.Ile578Val NC_000010.11:30313625:T:C p.(Ile578Val) NC_000010.11:30313625:T:C p.(Ile578Val) NC_000010.11:30313625:T:C Identity +NM_004557.4:c.2218A>T NP_004548.3:p.Asn740Tyr NC_000006.12:32213789:T:A p.(Asn740Tyr) NC_000006.12:32213789:T:A p.(Asn740Tyr) NC_000006.12:32213789:T:A Identity +NM_001317799.2:c.1954T>C NP_001304728.1:p.Phe652Leu NC_000004.12:123028272:T:C p.(Phe652Leu) NC_000004.12:123028272:T:C p.(Phe652Leu) NC_000004.12:123028272:T:C Identity +NM_000111.3:c.1754G>A NP_000102.1:p.Gly585Asp NC_000007.14:107774795:C:T p.(Gly585Asp) NC_000007.14:107774795:C:T p.(Gly585Asp) NC_000007.14:107774795:C:T Identity +NM_014550.4:c.2341C>T NP_055365.2:p.Pro781Ser NC_000022.11:37495548:G:A p.(Pro781Ser) NC_000022.11:37495548:G:A p.(Pro781Ser) NC_000022.11:37495548:G:A Identity +NM_152763.5:c.1517T>G NP_689976.2:p.Phe506Cys NC_000001.11:108837568:A:C p.(Phe506Cys) NC_000001.11:108837568:A:C p.(Phe506Cys) NC_000001.11:108837568:A:C Identity +NM_001080744.2:c.811C>T NP_001074213.1:p.Arg271Trp NC_000003.12:186275645:G:A p.(Arg271Trp) NC_000003.12:186275645:G:A p.(Arg271Trp) NC_000003.12:186275645:G:A Identity +NM_033412.4:c.672G>T NP_219480.1:p.Met224Ile NC_000009.12:37887878:C:A p.(Met224Ile) NC_000009.12:37887878:C:A p.(Met224Ile) NC_000009.12:37887878:C:A Identity +NM_001301128.2:c.1390G>C NP_001288057.1:p.Asp464His NC_000007.14:78343795:C:G p.(Asp464His) NC_000007.14:78343795:C:G p.(Asp464His) NC_000007.14:78343795:C:G Identity +NM_014481.4:c.226C>T NP_055296.2:p.Arg76Cys NC_000023.11:55001613:C:T p.(Arg76Cys) NC_000023.11:55001613:C:T p.(Arg76Cys) NC_000023.11:55001613:C:T Identity +NM_006825.4:c.1088T>C NP_006816.2:p.Val363Ala NC_000012.12:106239744:A:G p.(Val363Ala) NC_000012.12:106239744:A:G p.(Val363Ala) NC_000012.12:106239744:A:G Identity +NM_001365878.1:c.352G>A NP_001352807.1:p.Ala118Thr NC_000022.11:37182615:C:T p.(Ala118Thr) NC_000022.11:37182615:C:T p.(Ala118Thr) NC_000022.11:37182615:C:T Identity +NM_138691.3:c.1951G>T NP_619636.2:p.Val651Phe NC_000009.12:72821028:G:T p.(Val651Phe) NC_000009.12:72821028:G:T p.(Val651Phe) NC_000009.12:72821028:G:T Identity +NM_001410934.1:c.10105G>A NP_001397863.1:p.Val3369Ile NC_000008.11:76863896:G:A p.(Val3369Ile) NC_000008.11:76863896:G:A p.(Val3369Ile) NC_000008.11:76863896:G:A Identity +NM_006393.3:c.1234T>A NP_006384.1:p.Tyr412Asn NC_000010.11:20840842:A:T p.(Tyr412Asn) NC_000010.11:20840842:A:T p.(Tyr412Asn) NC_000010.11:20840842:A:T Identity +NM_001291997.2:c.491T>C NP_001278926.1:p.Phe164Ser NC_000016.10:78432525:T:C p.(Phe164Ser) NC_000016.10:78432525:T:C p.(Phe164Ser) NC_000016.10:78432525:T:C Identity +NM_021035.3:c.2285T>C NP_066363.1:p.Met762Thr NC_000020.11:49263349:A:G p.(Met762Thr) NC_000020.11:49263349:A:G p.(Met762Thr) NC_000020.11:49263349:A:G Identity +NM_001330209.2:c.42G>T NP_001317138.1:p.Leu14Phe NC_000023.11:13735276:G:T p.(Leu14Phe) NC_000023.11:13735276:G:T p.(Leu14Phe) NC_000023.11:13735276:G:T Identity +NM_001194.4:c.1855A>T NP_001185.3:p.Thr619Ser NC_000019.10:613880:A:T p.(Thr619Ser) NC_000019.10:613880:A:T p.(Thr619Ser) NC_000019.10:613880:A:T Identity +NM_001001567.2:c.1172C>T NP_001001567.1:p.Thr391Ile NC_000021.9:42765489:C:T p.(Thr391Ile) NC_000021.9:42765489:C:T p.(Thr391Ile) NC_000021.9:42765489:C:T Identity +NM_001320263.2:c.235G>T NP_001307192.1:p.Val79Leu NC_000010.11:74138144:C:A p.(Val79Leu) NC_000010.11:74138144:C:A p.(Val79Leu) NC_000010.11:74138144:C:A Identity +NM_033054.3:c.2273G>A NP_149043.2:p.Arg758Gln NC_000007.14:44965744:C:T p.(Arg758Gln) NC_000007.14:44965744:C:T p.(Arg758Gln) NC_000007.14:44965744:C:T Identity +NM_001397346.1:c.1148C>T NP_001384275.1:p.Pro383Leu NC_000019.10:47802027:G:A p.(Pro383Leu) NC_000019.10:47802027:G:A p.(Pro383Leu) NC_000019.10:47802027:G:A Identity +NM_001012503.2:c.253G>T NP_001012521.1:p.Gly85Trp NC_000011.10:71527552:G:T p.(Gly85Trp) NC_000011.10:71527552:G:T p.(Gly85Trp) NC_000011.10:71527552:G:T Identity +NM_003565.4:c.1310A>C NP_003556.2:p.Gln437Pro NC_000012.12:131914413:A:C p.(Gln437Pro) NC_000012.12:131914413:A:C p.(Gln437Pro) NC_000012.12:131914413:A:C Identity +NM_001142782.2:c.3662C>T NP_001136254.1:p.Ser1221Leu NC_000001.11:113683229:C:T p.(Ser1221Leu) NC_000001.11:113683229:C:T p.(Ser1221Leu) NC_000001.11:113683229:C:T Identity +NM_001193533.3:c.361G>A NP_001180462.1:p.Asp121Asn NC_000003.12:52765924:C:T p.(Asp121Asn) NC_000003.12:52765924:C:T p.(Asp121Asn) NC_000003.12:52765924:C:T Identity +NM_177531.6:c.10844G>C NP_803875.2:p.Gly3615Ala NC_000008.11:109504341:G:C p.(Gly3615Ala) NC_000008.11:109504341:G:C p.(Gly3615Ala) NC_000008.11:109504341:G:C Identity +NM_001318026.2:c.79C>T NP_001304955.1:p.Pro27Ser NC_000003.12:73047261:C:T p.(Pro27Ser) NC_000003.12:73047261:C:T p.(Pro27Ser) NC_000003.12:73047261:C:T Identity +NM_001134492.2:c.7C>T NP_001127964.1:p.Leu3Phe NC_000001.11:86915042:C:T p.(Leu3Phe) NC_000001.11:86915042:C:T p.(Leu3Phe) NC_000001.11:86915042:C:T Identity +NM_001165963.4:c.3358G>A NP_001159435.1:p.Gly1120Arg NC_000002.12:166036118:C:T p.(Gly1120Arg) NC_000002.12:166036118:C:T p.(Gly1120Arg) NC_000002.12:166036118:C:T Identity +NM_001411012.1:c.3929C>T NP_001397941.1:p.Pro1310Leu NC_000013.11:32202437:C:T p.(Pro1310Leu) NC_000013.11:32202437:C:T p.(Pro1310Leu) NC_000013.11:32202437:C:T Identity +NM_177478.2:c.219C>A NP_803431.1:p.His73Gln NC_000005.10:121852181:C:A p.(His73Gln) NC_000005.10:121852181:C:A p.(His73Gln) NC_000005.10:121852181:C:A Identity +NM_001089.3:c.3166G>T NP_001080.2:p.Val1056Phe NC_000016.10:2286805:C:A p.(Val1056Phe) NC_000016.10:2286805:C:A p.(Val1056Phe) NC_000016.10:2286805:C:A Identity +NM_001004458.4:c.20C>T NP_001004458.2:p.Thr7Ile NC_000011.10:58214802:C:T p.(Thr7Ile) NC_000011.10:58214802:C:T p.(Thr7Ile) NC_000011.10:58214802:C:T Identity +NM_002203.4:c.761G>A NP_002194.2:p.Gly254Glu NC_000005.10:53051540:G:A p.(Gly254Glu) NC_000005.10:53051540:G:A p.(Gly254Glu) NC_000005.10:53051540:G:A Identity +NM_139246.5:c.1471G>A NP_640339.4:p.Glu491Lys NC_000009.12:97602548:C:T p.(Glu491Lys) NC_000009.12:97602548:C:T p.(Glu491Lys) NC_000009.12:97602548:C:T Identity +NM_001146154.2:c.448A>G NP_001139626.1:p.Ile150Val NC_000014.9:73877096:A:G p.(Ile150Val) NC_000014.9:73877096:A:G p.(Ile150Val) NC_000014.9:73877096:A:G Identity +NM_001040712.2:c.2087C>T NP_001035802.1:p.Thr696Ile NC_000009.12:8484202:G:A p.(Thr696Ile) NC_000009.12:8484202:G:A p.(Thr696Ile) NC_000009.12:8484202:G:A Identity +NM_001003.3:c.159C>A NP_000994.1:p.Asn53Lys NC_000015.10:69455180:C:A p.(Asn53Lys) NC_000015.10:69455180:C:A p.(Asn53Lys) NC_000015.10:69455180:C:A Identity +NM_198699.1:c.147C>G NP_941972.1:p.Ser49Arg NC_000021.9:44697347:C:G p.(Ser49Arg) NC_000021.9:44697347:C:G p.(Ser49Arg) NC_000021.9:44697347:C:G Identity +NM_001346765.2:c.5530C>T NP_001333694.1:p.Arg1844Trp NC_000017.11:29090013:G:A p.(Arg1844Trp) NC_000017.11:29090013:G:A p.(Arg1844Trp) NC_000017.11:29090013:G:A Identity +NM_001322228.2:c.458A>C NP_001309157.1:p.Glu153Ala NC_000014.9:90947486:T:G p.(Glu153Ala) NC_000014.9:90947486:T:G p.(Glu153Ala) NC_000014.9:90947486:T:G Identity +NM_032195.3:c.6884G>A NP_115571.3:p.Arg2295Lys NC_000021.9:33560102:G:A p.(Arg2295Lys) NC_000021.9:33560102:G:A p.(Arg2295Lys) NC_000021.9:33560102:G:A Identity +NM_001197287.2:c.440A>T NP_001184216.2:p.Lys147Ile NC_000014.9:19713443:T:A p.(Lys147Ile) NC_000014.9:19713443:T:A p.(Lys147Ile) NC_000014.9:19713443:T:A Identity +NM_020759.3:c.7736A>G NP_065810.2:p.Glu2579Gly NC_000015.10:42689313:A:G p.(Glu2579Gly) NC_000015.10:42689313:A:G p.(Glu2579Gly) NC_000015.10:42689313:A:G Identity +NM_007113.4:c.4145G>A NP_009044.2:p.Arg1382Gln NC_000001.11:152109071:C:T p.(Arg1382Gln) NC_000001.11:152109071:C:T p.(Arg1382Gln) NC_000001.11:152109071:C:T Identity +NM_001301168.2:c.1213C>T NP_001288097.2:p.Pro405Ser NC_000015.10:45168059:G:A p.(Pro405Ser) NC_000015.10:45168059:G:A p.(Pro405Ser) NC_000015.10:45168059:G:A Identity +NM_001098482.2:c.433G>A NP_001091952.1:p.Asp145Asn NC_000019.10:18747055:G:A p.(Asp145Asn) NC_000019.10:18747055:G:A p.(Asp145Asn) NC_000019.10:18747055:G:A Identity +NM_001365906.3:c.3824C>T NP_001352835.1:p.Pro1275Leu NC_000014.9:73272650:C:T p.(Pro1275Leu) NC_000014.9:73272650:C:T p.(Pro1275Leu) NC_000014.9:73272650:C:T Identity +NM_001099400.2:c.496A>G NP_001092870.1:p.Ile166Val NC_000007.14:94618923:T:C p.(Ile166Val) NC_000007.14:94618923:T:C p.(Ile166Val) NC_000007.14:94618923:T:C Identity +NM_001042678.2:c.69C>G NP_001036143.1:p.Ile23Met NC_000001.11:112703730:G:C p.(Ile23Met) NC_000001.11:112703730:G:C p.(Ile23Met) NC_000001.11:112703730:G:C Identity +NM_145298.6:c.622C>T NP_660341.2:p.Arg208Cys NC_000022.11:39049479:C:T p.(Arg208Cys) NC_000022.11:39049479:C:T p.(Arg208Cys) NC_000022.11:39049479:C:T Identity +NM_001199037.2:c.619G>A NP_001185966.1:p.Ala207Thr NC_000001.11:31425909:G:A p.(Ala207Thr) NC_000001.11:31425909:G:A p.(Ala207Thr) NC_000001.11:31425909:G:A Identity +NM_001649.4:c.1175A>G NP_001640.1:p.His392Arg NC_000023.11:9895082:A:G p.(His392Arg) NC_000023.11:9895082:A:G p.(His392Arg) NC_000023.11:9895082:A:G Identity +NM_152565.1:c.874G>A NP_689778.1:p.Val292Met NC_000008.11:86151522:G:A p.(Val292Met) NC_000008.11:86151522:G:A p.(Val292Met) NC_000008.11:86151522:G:A Identity +NM_001278298.2:c.3432T>A NP_001265227.1:p.Asp1144Glu NC_000003.12:130395328:T:A p.(Asp1144Glu) NC_000003.12:130395328:T:A p.(Asp1144Glu) NC_000003.12:130395328:T:A Identity +NM_002471.4:c.174G>C NP_002462.2:p.Lys58Asn NC_000014.9:23407049:C:G p.(Lys58Asn) NC_000014.9:23407049:C:G p.(Lys58Asn) NC_000014.9:23407049:C:G Identity +NM_178537.5:c.1741G>A NP_848632.2:p.Gly581Ser NC_000011.10:376863:G:A p.(Gly581Ser) NC_000011.10:376863:G:A p.(Gly581Ser) NC_000011.10:376863:G:A Identity +NM_017575.5:c.2651G>A NP_060045.4:p.Ser884Asn NC_000017.11:2282656:C:T p.(Ser884Asn) NC_000017.11:2282656:C:T p.(Ser884Asn) NC_000017.11:2282656:C:T Identity +NM_000226.4:c.196G>A NP_000217.2:p.Gly66Ser NC_000017.11:41571796:C:T p.(Gly66Ser) NC_000017.11:41571796:C:T p.(Gly66Ser) NC_000017.11:41571796:C:T Identity +NM_005114.4:c.448T>A NP_005105.1:p.Ser150Thr NC_000004.12:11399557:A:T p.(Ser150Thr) NC_000004.12:11399557:A:T p.(Ser150Thr) NC_000004.12:11399557:A:T Identity +NM_032656.4:c.1943G>A NP_116045.2:p.Arg648His NC_000012.12:124964495:C:T p.(Arg648His) NC_000012.12:124964495:C:T p.(Arg648His) NC_000012.12:124964495:C:T Identity +NM_001300910.2:c.1133A>G NP_001287839.1:p.Lys378Arg NC_000019.10:15111355:A:G p.(Lys378Arg) NC_000019.10:15111355:A:G p.(Lys378Arg) NC_000019.10:15111355:A:G Identity +NM_001005369.1:c.1190G>A NP_001005369.1:p.Arg397His NC_000002.12:55244149:C:T p.(Arg397His) NC_000002.12:55244149:C:T p.(Arg397His) NC_000002.12:55244149:C:T Identity +NM_001077416.2:c.327G>T NP_001070884.2:p.Glu109Asp NC_000016.10:75555944:C:A p.(Glu109Asp) NC_000016.10:75555944:C:A p.(Glu109Asp) NC_000016.10:75555944:C:A Identity +NM_014109.4:c.2923G>A NP_054828.2:p.Val975Met NC_000008.11:123337752:C:T p.(Val975Met) NC_000008.11:123337752:C:T p.(Val975Met) NC_000008.11:123337752:C:T Identity +NM_000026.4:c.694T>G NP_000017.1:p.Phe232Val NC_000022.11:40359298:T:G p.(Phe232Val) NC_000022.11:40359298:T:G p.(Phe232Val) NC_000022.11:40359298:T:G Identity +NM_133497.4:c.140C>T NP_598004.1:p.Thr47Ile NC_000009.12:2717878:C:T p.(Thr47Ile) NC_000009.12:2717878:C:T p.(Thr47Ile) NC_000009.12:2717878:C:T Identity +NM_001135556.2:c.1366A>G NP_001129028.1:p.Lys456Glu NC_000007.14:96039277:A:G p.(Lys456Glu) NC_000007.14:96039277:A:G p.(Lys456Glu) NC_000007.14:96039277:A:G Identity +NM_001386339.1:c.3920G>T NP_001373268.1:p.Arg1307Leu NC_000011.10:9816993:C:A p.(Arg1307Leu) NC_000011.10:9816993:C:A p.(Arg1307Leu) NC_000011.10:9816993:C:A Identity +NM_000028.3:c.3079T>G NP_000019.2:p.Ser1027Ala NC_000001.11:99891734:T:G p.(Ser1027Ala) NC_000001.11:99891734:T:G p.(Ser1027Ala) NC_000001.11:99891734:T:G Identity +NM_001261826.3:c.1941G>T NP_001248755.1:p.Glu647Asp NC_000019.10:2116664:C:A p.(Glu647Asp) NC_000019.10:2116664:C:A p.(Glu647Asp) NC_000019.10:2116664:C:A Identity +NM_003737.4:c.5542G>A NP_003728.1:p.Ala1848Thr NC_000011.10:6627496:C:T p.(Ala1848Thr) NC_000011.10:6627496:C:T p.(Ala1848Thr) NC_000011.10:6627496:C:T Identity +NM_002458.3:c.11558C>A NP_002449.2:p.Pro3853His NC_000011.10:1248437:C:A p.(Pro3853His) NC_000011.10:1248437:C:A p.(Pro3853His) NC_000011.10:1248437:C:A Identity +NM_001013436.4:c.40C>A NP_001013454.1:p.Gln14Lys NC_000022.11:37024254:C:A p.(Gln14Lys) NC_000022.11:37024254:C:A p.(Gln14Lys) NC_000022.11:37024254:C:A Identity +NM_002165.4:c.367C>G NP_002156.2:p.Leu123Val NC_000020.11:31605753:C:G p.(Leu123Val) NC_000020.11:31605753:C:G p.(Leu123Val) NC_000020.11:31605753:C:G Identity +NM_001193511.2:c.1987G>A NP_001180440.1:p.Gly663Arg NC_000012.12:53482815:C:T p.(Gly663Arg) NC_000012.12:53482815:C:T p.(Gly663Arg) NC_000012.12:53482815:C:T Identity +NM_001330556.2:c.283G>A NP_001317485.1:p.Asp95Asn NC_000016.10:57475511:C:T p.(Asp95Asn) NC_000016.10:57475511:C:T p.(Asp95Asn) NC_000016.10:57475511:C:T Identity +NM_000862.3:c.742A>G NP_000853.1:p.Ser248Gly NC_000001.11:119514264:A:G p.(Ser248Gly) NC_000001.11:119514264:A:G p.(Ser248Gly) NC_000001.11:119514264:A:G Identity +NM_022843.4:c.722T>C NP_073754.2:p.Ile241Thr NC_000013.11:61413376:A:G p.(Ile241Thr) NC_000013.11:61413376:A:G p.(Ile241Thr) NC_000013.11:61413376:A:G Identity +NM_001190906.2:c.562A>G NP_001177835.1:p.Ile188Val NC_000007.14:138106712:A:G p.(Ile188Val) NC_000007.14:138106712:A:G p.(Ile188Val) NC_000007.14:138106712:A:G Identity +NM_001318812.2:c.101C>T NP_001305741.1:p.Ala34Val NC_000011.10:62728948:C:T p.(Ala34Val) NC_000011.10:62728948:C:T p.(Ala34Val) NC_000011.10:62728948:C:T Identity +NM_001317238.2:c.776G>T NP_001304167.1:p.Arg259Leu NC_000001.11:1485788:G:T p.(Arg259Leu) NC_000001.11:1485788:G:T p.(Arg259Leu) NC_000001.11:1485788:G:T Identity +NM_001378761.1:c.7290G>C NP_001365690.1:p.Glu2430Asp NC_000011.10:121189860:G:C p.(Glu2430Asp) NC_000011.10:121189860:G:C p.(Glu2430Asp) NC_000011.10:121189860:G:C Identity +NM_004704.5:c.992A>G NP_004695.1:p.His331Arg NC_000003.12:51935238:T:C p.(His331Arg) NC_000003.12:51935238:T:C p.(His331Arg) NC_000003.12:51935238:T:C Identity +NM_001193528.2:c.839C>T NP_001180457.1:p.Pro280Leu NC_000002.12:174422989:C:T p.(Pro280Leu) NC_000002.12:174422989:C:T p.(Pro280Leu) NC_000002.12:174422989:C:T Identity +NM_001303139.2:c.1632C>G NP_001290068.1:p.Ser544Arg NC_000003.12:73384027:G:C p.(Ser544Arg) NC_000003.12:73384027:G:C p.(Ser544Arg) NC_000003.12:73384027:G:C Identity +NM_001193509.2:c.1640C>A NP_001180438.1:p.Ala547Asp NC_000002.12:32782635:C:A p.(Ala547Asp) NC_000002.12:32782635:C:A p.(Ala547Asp) NC_000002.12:32782635:C:A Identity +NM_001362481.2:c.202G>A NP_001349410.1:p.Asp68Asn NC_000004.12:67539868:C:T p.(Asp68Asn) NC_000004.12:67539868:C:T p.(Asp68Asn) NC_000004.12:67539868:C:T Identity +NM_001031672.4:c.461G>C NP_001026842.2:p.Arg154Pro NC_000001.11:54184239:C:G p.(Arg154Pro) NC_000001.11:54184239:C:G p.(Arg154Pro) NC_000001.11:54184239:C:G Identity +NM_020879.3:c.1279T>C NP_065930.2:p.Ser427Pro NC_000007.14:77274490:T:C p.(Ser427Pro) NC_000007.14:77274490:T:C p.(Ser427Pro) NC_000007.14:77274490:T:C Identity +NM_181506.5:c.20C>T NP_852607.3:p.Ser7Phe NC_000005.10:62579457:C:T p.(Ser7Phe) NC_000005.10:62579457:C:T p.(Ser7Phe) NC_000005.10:62579457:C:T Identity +NM_005990.4:c.2014C>T NP_005981.3:p.Pro672Ser NC_000005.10:172064787:G:A p.(Pro672Ser) NC_000005.10:172064787:G:A p.(Pro672Ser) NC_000005.10:172064787:G:A Identity +NM_020440.4:c.988G>A NP_065173.2:p.Val330Met NC_000001.11:116949346:G:A p.(Val330Met) NC_000001.11:116949346:G:A p.(Val330Met) NC_000001.11:116949346:G:A Identity +NM_015941.4:c.1387A>G NP_057025.2:p.Asn463Asp NC_000008.11:53743580:T:C p.(Asn463Asp) NC_000008.11:53743580:T:C p.(Asn463Asp) NC_000008.11:53743580:T:C Identity +NM_001365308.1:c.437T>C NP_001352237.1:p.Val146Ala NC_000007.14:33970362:T:C p.(Val146Ala) NC_000007.14:33970362:T:C p.(Val146Ala) NC_000007.14:33970362:T:C Identity +NM_001371575.1:c.1454C>T NP_001358504.1:p.Pro485Leu NC_000002.12:69518996:G:A p.(Pro485Leu) NC_000002.12:69518996:G:A p.(Pro485Leu) NC_000002.12:69518996:G:A Identity +NM_001008224.3:c.1433A>G NP_001008225.1:p.Gln478Arg NC_000015.10:70669211:T:C p.(Gln478Arg) NC_000015.10:70669211:T:C p.(Gln478Arg) NC_000015.10:70669211:T:C Identity +NM_001009960.1:c.537T>G NP_001009960.1:p.Asn179Lys NC_000007.14:99572644:T:G p.(Asn179Lys) NC_000007.14:99572644:T:G p.(Asn179Lys) NC_000007.14:99572644:T:G Identity +NM_001304438.2:c.413C>G NP_001291367.1:p.Ser138Trp NC_000017.11:34626471:C:G p.(Ser138Trp) NC_000017.11:34626471:C:G p.(Ser138Trp) NC_000017.11:34626471:C:G Identity +NM_001190481.2:c.1543G>A NP_001177410.1:p.Asp515Asn NC_000001.11:35760377:C:T p.(Asp515Asn) NC_000001.11:35760377:C:T p.(Asp515Asn) NC_000001.11:35760377:C:T Identity +NM_145812.3:c.134C>A NP_665811.1:p.Pro45His NC_000023.11:130155258:G:T p.(Pro45His) NC_000023.11:130155258:G:T p.(Pro45His) NC_000023.11:130155258:G:T Identity +NM_023079.5:c.538A>G NP_075567.2:p.Asn180Asp NC_000017.11:48912980:A:G p.(Asn180Asp) NC_000017.11:48912980:A:G p.(Asn180Asp) NC_000017.11:48912980:A:G Identity +NM_001080395.3:c.196G>A NP_001073864.2:p.Glu66Lys NC_000017.11:81131198:C:T p.(Glu66Lys) NC_000017.11:81131198:C:T p.(Glu66Lys) NC_000017.11:81131198:C:T Identity +NM_001317227.2:c.2179G>A NP_001304156.1:p.Asp727Asn NC_000005.10:21751942:C:T p.(Asp727Asn) NC_000005.10:21751942:C:T p.(Asp727Asn) NC_000005.10:21751942:C:T Identity +NM_001301275.2:c.346A>G NP_001288204.1:p.Asn116Asp NC_000009.12:94300476:A:G p.(Asn116Asp) NC_000009.12:94300476:A:G p.(Asn116Asp) NC_000009.12:94300476:A:G Identity +NM_014708.6:c.1543G>A NP_055523.1:p.Val515Met NC_000012.12:122562637:G:A p.(Val515Met) NC_000012.12:122562637:G:A p.(Val515Met) NC_000012.12:122562637:G:A Identity +NM_025138.5:c.1148G>C NP_079414.3:p.Gly383Ala NC_000013.11:39014103:C:G p.(Gly383Ala) NC_000013.11:39014103:C:G p.(Gly383Ala) NC_000013.11:39014103:C:G Identity +NM_001134793.2:c.266T>C NP_001128265.1:p.Leu89Pro NC_000011.10:125899633:T:C p.(Leu89Pro) NC_000011.10:125899633:T:C p.(Leu89Pro) NC_000011.10:125899633:T:C Identity +NM_001258379.2:c.2525T>C NP_001245308.1:p.Met842Thr NC_000003.12:27394725:A:G p.(Met842Thr) NC_000003.12:27394725:A:G p.(Met842Thr) NC_000003.12:27394725:A:G Identity +NM_001109760.1:c.307G>C NP_001103230.1:p.Asp103His NC_000017.11:81551186:C:G ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found ERR:AlignmentMapper(tx_ac=NM_001109760.1, alt_ac=NM_001109760.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001109760.1, alt_ac=NM_001109760.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found +NM_001004476.2:c.346G>T NP_001004476.1:p.Ala116Ser NC_000001.11:158420520:C:A p.(Ala116Ser) NC_000001.11:158420520:C:A p.(Ala116Ser) NC_000001.11:158420520:C:A Identity +NM_003395.4:c.212T>G NP_003386.1:p.Met71Arg NC_000001.11:227925402:A:C p.(Met71Arg) NC_000001.11:227925402:A:C p.(Met71Arg) NC_000001.11:227925402:A:C Identity +NM_001002909.4:c.2546A>G NP_001002909.1:p.His849Arg NC_000017.11:44399530:T:C p.(His849Arg) NC_000017.11:44399530:T:C p.(His849Arg) NC_000017.11:44399530:T:C Identity +NM_001350929.2:c.5596G>C NP_001337858.1:p.Asp1866His NC_000014.9:104949554:C:G p.(Asp1866His) NC_000014.9:104949554:C:G p.(Asp1866His) NC_000014.9:104949554:C:G Identity +NM_001167595.2:c.1174A>G NP_001161067.1:p.Ile392Val NC_000005.10:33988318:T:C p.(Ile392Val) NC_000005.10:33988318:T:C p.(Ile392Val) NC_000005.10:33988318:T:C Identity +NM_001320546.3:c.2033T>C NP_001307475.1:p.Ile678Thr NC_000003.12:49013644:T:C p.(Ile678Thr) NC_000003.12:49013644:T:C p.(Ile678Thr) NC_000003.12:49013644:T:C Identity +NM_001040097.2:c.50C>G NP_001035186.1:p.Pro17Arg NC_000007.14:100612840:C:G p.(Pro17Arg) NC_000007.14:100612840:C:G p.(Pro17Arg) NC_000007.14:100612840:C:G Identity +NM_001142782.2:c.3445G>A NP_001136254.1:p.Glu1149Lys NC_000001.11:113683012:G:A p.(Glu1149Lys) NC_000001.11:113683012:G:A p.(Glu1149Lys) NC_000001.11:113683012:G:A Identity +NM_152718.2:c.344A>G NP_689931.2:p.His115Arg NC_000011.10:61290878:T:C p.(His115Arg) NC_000011.10:61290878:T:C p.(His115Arg) NC_000011.10:61290878:T:C Identity +NM_002246.3:c.809C>T NP_002237.1:p.Ala270Val NC_000002.12:26728191:C:T p.(Ala270Val) NC_000002.12:26728191:C:T p.(Ala270Val) NC_000002.12:26728191:C:T Identity +NM_012414.4:c.1798G>A NP_036546.2:p.Ala600Thr NC_000001.11:220185722:C:T p.(Ala600Thr) NC_000001.11:220185722:C:T p.(Ala600Thr) NC_000001.11:220185722:C:T Identity +NM_001302826.2:c.335G>C NP_001289755.1:p.Gly112Ala NC_000011.10:7669257:C:G p.(Gly112Ala) NC_000011.10:7669257:C:G p.(Gly112Ala) NC_000011.10:7669257:C:G Identity +NM_001354732.2:c.5C>T NP_001341661.1:p.Ala2Val NC_000012.12:79690239:G:A p.(Ala2Val) NC_000012.12:79690239:G:A p.(Ala2Val) NC_000012.12:79690239:G:A Identity +NM_201435.5:c.1126T>C NP_958843.2:p.Cys376Arg NC_000012.12:122801271:T:C p.(Cys376Arg) NC_000012.12:122801271:T:C p.(Cys376Arg) NC_000012.12:122801271:T:C Identity +NM_001178074.2:c.158T>C NP_001171545.1:p.Val53Ala NC_000012.12:66541928:A:G p.(Val53Ala) NC_000012.12:66541928:A:G p.(Val53Ala) NC_000012.12:66541928:A:G Identity +NM_005045.4:c.5239C>G NP_005036.2:p.Gln1747Glu NC_000007.14:103561924:G:C p.(Gln1747Glu) NC_000007.14:103561924:G:C p.(Gln1747Glu) NC_000007.14:103561924:G:C Identity +NM_001206612.2:c.314G>C NP_001193541.1:p.Gly105Ala NC_000001.11:153642336:G:C p.(Gly105Ala) NC_000001.11:153642336:G:C p.(Gly105Ala) NC_000001.11:153642336:G:C Identity +NM_001198838.2:c.2510C>A NP_001185767.1:p.Pro837Gln NC_000020.11:35652812:G:T p.(Pro837Gln) NC_000020.11:35652812:G:T p.(Pro837Gln) NC_000020.11:35652812:G:T Identity +NM_001122853.3:c.409A>G NP_001116325.1:p.Ser137Gly NC_000005.10:150671892:A:G p.(Ser137Gly) NC_000005.10:150671892:A:G p.(Ser137Gly) NC_000005.10:150671892:A:G Identity +NM_001080508.3:c.122T>C NP_001073977.1:p.Leu41Pro NC_000006.12:84764059:A:G p.(Leu41Pro) NC_000006.12:84764059:A:G p.(Leu41Pro) NC_000006.12:84764059:A:G Identity +NM_001252043.2:c.1315C>A NP_001238972.1:p.Leu439Ile NC_000016.10:29983556:C:A p.(Leu439Ile) NC_000016.10:29983556:C:A p.(Leu439Ile) NC_000016.10:29983556:C:A Identity +NM_001367759.1:c.1376T>G NP_001354688.1:p.Leu459Trp NC_000006.12:121283906:A:C p.(Leu459Trp) NC_000006.12:121283906:A:C p.(Leu459Trp) NC_000006.12:121283906:A:C Identity +NM_020695.4:c.3532C>T NP_065746.3:p.Arg1178Trp NC_000019.10:1816269:G:A p.(Arg1178Trp) NC_000019.10:1816269:G:A p.(Arg1178Trp) NC_000019.10:1816269:G:A Identity +NM_003492.3:c.34G>C NP_003483.1:p.Val12Leu NC_000023.11:153982095:G:C p.(Val12Leu) NC_000023.11:153982095:G:C p.(Val12Leu) NC_000023.11:153982095:G:C Identity +NM_001172128.2:c.2753G>A NP_001165599.1:p.Gly918Asp NC_000015.10:81300078:G:A p.(Gly918Asp) NC_000015.10:81300078:G:A p.(Gly918Asp) NC_000015.10:81300078:G:A Identity +NM_001410934.1:c.9145G>C NP_001397863.1:p.Gly3049Arg NC_000008.11:76856143:G:C p.(Gly3049Arg) NC_000008.11:76856143:G:C p.(Gly3049Arg) NC_000008.11:76856143:G:C Identity +NM_152573.4:c.1058A>G NP_689786.2:p.Asn353Ser NC_000009.12:83005470:T:C p.(Asn353Ser) NC_000009.12:83005470:T:C p.(Asn353Ser) NC_000009.12:83005470:T:C Identity +NM_001164399.2:c.621A>C NP_001157871.1:p.Glu207Asp NC_000014.9:59565145:T:G p.(Glu207Asp) NC_000014.9:59565145:T:G p.(Glu207Asp) NC_000014.9:59565145:T:G Identity +NM_003019.5:c.334G>A NP_003010.4:p.Gly112Ser NC_000010.11:79942486:C:T p.(Gly112Ser) NC_000010.11:79942486:C:T p.(Gly112Ser) NC_000010.11:79942486:C:T Identity +NM_001371401.1:c.440G>A NP_001358330.1:p.Arg147His NC_000009.12:135503681:G:A p.(Arg147His) NC_000009.12:135503681:G:A p.(Arg147His) NC_000009.12:135503681:G:A Identity +NM_001372081.1:c.392G>C NP_001359010.1:p.Ser131Thr NC_000006.12:44360549:G:C p.(Ser131Thr) NC_000006.12:44360549:G:C p.(Ser131Thr) NC_000006.12:44360549:G:C Identity +NM_001365999.1:c.9021G>C NP_001352928.1:p.Gln3007His NC_000001.11:43446364:G:C p.(Gln3007His) NC_000001.11:43446364:G:C p.(Gln3007His) NC_000001.11:43446364:G:C Identity +NM_001001670.3:c.1585T>C NP_001001670.1:p.Phe529Leu NC_000009.12:81992054:T:C p.(Phe529Leu) NC_000009.12:81992054:T:C p.(Phe529Leu) NC_000009.12:81992054:T:C Identity +NM_001243224.1:c.83G>A NP_001230153.1:p.Arg28Gln NC_000011.10:67393571:G:A p.(Arg28Gln) NC_000011.10:67393571:G:A p.(Arg28Gln) NC_000011.10:67393571:G:A Identity +NM_080284.3:c.958G>A NP_525023.2:p.Val320Met NC_000017.11:69128779:C:T p.(Val320Met) NC_000017.11:69128779:C:T p.(Val320Met) NC_000017.11:69128779:C:T Identity +NM_001114120.3:c.2275G>A NP_001107592.1:p.Glu759Lys NC_000001.11:68477809:C:T p.(Glu759Lys) NC_000001.11:68477809:C:T p.(Glu759Lys) NC_000001.11:68477809:C:T Identity +NM_001436.4:c.481G>A NP_001427.2:p.Ala161Thr NC_000019.10:39839102:C:T p.(Ala161Thr) NC_000019.10:39839102:C:T p.(Ala161Thr) NC_000019.10:39839102:C:T Identity +NM_206996.4:c.3821C>T NP_996879.1:p.Thr1274Met NC_000001.11:118025325:G:A p.(Thr1274Met) NC_000001.11:118025325:G:A p.(Thr1274Met) NC_000001.11:118025325:G:A Identity +NM_005763.4:c.1706A>G NP_005754.2:p.Asn569Ser NC_000007.14:122093107:T:C p.(Asn569Ser) NC_000007.14:122093107:T:C p.(Asn569Ser) NC_000007.14:122093107:T:C Identity +NM_001001891.3:c.103G>A NP_001001891.2:p.Ala35Thr NC_000002.12:241188713:G:A ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found +NM_012098.3:c.1375C>T NP_036230.1:p.Arg459Trp NC_000009.12:127089045:G:A p.(Arg459Trp) NC_000009.12:127089045:G:A p.(Arg459Trp) NC_000009.12:127089045:G:A Identity +NM_001270523.2:c.400C>G NP_001257452.1:p.Pro134Ala NC_000014.9:56802204:G:C p.(Pro134Ala) NC_000014.9:56802204:G:C p.(Pro134Ala) NC_000014.9:56802204:G:C Identity +NM_003137.5:c.449A>G NP_003128.3:p.Asp150Gly NC_000006.12:35886752:T:C p.(Asp150Gly) NC_000006.12:35886752:T:C p.(Asp150Gly) NC_000006.12:35886752:T:C Identity +NM_014838.3:c.1094C>T NP_055653.2:p.Pro365Leu NC_000022.11:49884755:C:T p.(Pro365Leu) NC_000022.11:49884755:C:T p.(Pro365Leu) NC_000022.11:49884755:C:T Identity +NM_033438.4:c.514C>T NP_254273.2:p.Arg172Trp NC_000001.11:159952411:G:A p.(Arg172Trp) NC_000001.11:159952411:G:A p.(Arg172Trp) NC_000001.11:159952411:G:A Identity +NM_001168299.2:c.257A>C NP_001161771.1:p.Asp86Ala NC_000023.11:117920362:T:G p.(Asp86Ala) NC_000023.11:117920362:T:G p.(Asp86Ala) NC_000023.11:117920362:T:G Identity +NM_016607.4:c.304C>T NP_057691.1:p.Arg102Cys NC_000023.11:101625282:C:T p.(Arg102Cys) NC_000023.11:101625282:C:T p.(Arg102Cys) NC_000023.11:101625282:C:T Identity +NM_001098535.1:c.718C>T NP_001092005.1:p.Arg240Cys NC_000022.11:32360595:C:T p.(Arg240Cys) NC_000022.11:32360595:C:T p.(Arg240Cys) NC_000022.11:32360595:C:T Identity +NM_144666.3:c.8689C>T NP_653267.2:p.Arg2897Cys NC_000011.10:6557983:C:T p.(Arg2897Cys) NC_000011.10:6557983:C:T p.(Arg2897Cys) NC_000011.10:6557983:C:T Identity +NM_001184699.2:c.1073G>A NP_001171628.1:p.Gly358Asp NC_000020.11:2796415:C:T p.(Gly358Asp) NC_000020.11:2796415:C:T p.(Gly358Asp) NC_000020.11:2796415:C:T Identity +NM_020531.3:c.377A>G NP_065392.1:p.Asn126Ser NC_000020.11:24973688:T:C p.(Asn126Ser) NC_000020.11:24973688:T:C p.(Asn126Ser) NC_000020.11:24973688:T:C Identity +NM_001036.6:c.2750A>T NP_001027.3:p.Asn917Ile NC_000015.10:33630009:A:T p.(Asn917Ile) NC_000015.10:33630009:A:T p.(Asn917Ile) NC_000015.10:33630009:A:T Identity +NM_032221.5:c.4241G>T NP_115597.3:p.Cys1414Phe NC_000020.11:41425282:C:A p.(Cys1414Phe) NC_000020.11:41425282:C:A p.(Cys1414Phe) NC_000020.11:41425282:C:A Identity +NM_020719.3:c.3736A>G NP_065770.1:p.Ile1246Val NC_000019.10:49599328:A:G p.(Ile1246Val) NC_000019.10:49599328:A:G p.(Ile1246Val) NC_000019.10:49599328:A:G Identity +NM_004259.7:c.1543C>T NP_004250.4:p.Arg515Cys NC_000017.11:75631154:G:A p.(Arg515Cys) NC_000017.11:75631154:G:A p.(Arg515Cys) NC_000017.11:75631154:G:A Identity +NM_020461.4:c.2101C>T NP_065194.3:p.Arg701Trp NC_000022.11:50224384:G:A p.(Arg701Trp) NC_000022.11:50224384:G:A p.(Arg701Trp) NC_000022.11:50224384:G:A Identity +NM_001242935.3:c.1078T>A NP_001229864.1:p.Leu360Met NC_000005.10:122451022:T:A p.(Leu360Met) NC_000005.10:122451022:T:A p.(Leu360Met) NC_000005.10:122451022:T:A Identity +NM_001142276.2:c.467G>A NP_001135748.1:p.Arg156Gln NC_000011.10:130120768:G:A p.(Arg156Gln) NC_000011.10:130120768:G:A p.(Arg156Gln) NC_000011.10:130120768:G:A Identity +NM_001130960.2:c.3484G>C NP_001124432.1:p.Asp1162His NC_000003.12:155482565:C:G p.(Asp1162His) NC_000003.12:155482565:C:G p.(Asp1162His) NC_000003.12:155482565:C:G Identity +NM_001040442.1:c.293C>A NP_001035532.1:p.Thr98Asn NC_000005.10:160232175:C:A p.(Thr98Asn) NC_000005.10:160232175:C:A p.(Thr98Asn) NC_000005.10:160232175:C:A Identity +NM_030976.2:c.242G>A NP_112238.1:p.Arg81His NC_000017.11:41140245:C:T p.(Arg81His) NC_000017.11:41140245:C:T p.(Arg81His) NC_000017.11:41140245:C:T Identity +NM_001128626.2:c.1757C>T NP_001122098.1:p.Thr586Ile NC_000018.10:12454364:G:A p.(Thr586Ile) NC_000018.10:12454364:G:A p.(Thr586Ile) NC_000018.10:12454364:G:A Identity +NM_001199417.2:c.3256G>A NP_001186346.1:p.Val1086Met NC_000017.11:38491511:G:A p.(Val1086Met) NC_000017.11:38491511:G:A p.(Val1086Met) NC_000017.11:38491511:G:A Identity +NM_016333.4:c.7907C>T NP_057417.3:p.Ser2636Phe NC_000016.10:2769169:C:T p.(Ser2636Phe) NC_000016.10:2769169:C:T p.(Ser2636Phe) NC_000016.10:2769169:C:T Identity +NM_001410961.1:c.160G>A NP_001397890.1:p.Val54Ile NC_000002.12:168247275:C:T p.(Val54Ile) NC_000002.12:168247275:C:T p.(Val54Ile) NC_000002.12:168247275:C:T Identity +NM_001347997.2:c.3038C>T NP_001334926.1:p.Thr1013Ile NC_000009.12:106926949:C:T p.(Thr1013Ile) NC_000009.12:106926949:C:T p.(Thr1013Ile) NC_000009.12:106926949:C:T Identity +NM_001008394.3:c.638A>T NP_001008395.1:p.Tyr213Phe NC_000012.12:104304571:A:T p.(Tyr213Phe) NC_000012.12:104304571:A:T p.(Tyr213Phe) NC_000012.12:104304571:A:T Identity +NM_000859.3:c.1559C>T NP_000850.1:p.Ser520Phe NC_000005.10:75354692:C:T p.(Ser520Phe) NC_000005.10:75354692:C:T p.(Ser520Phe) NC_000005.10:75354692:C:T Identity +NM_001080414.4:c.4808G>A NP_001073883.2:p.Ser1603Asn NC_000014.9:91278171:C:T p.(Ser1603Asn) NC_000014.9:91278171:C:T p.(Ser1603Asn) NC_000014.9:91278171:C:T Identity +NM_001621.5:c.329T>G NP_001612.1:p.Leu110Arg NC_000007.14:17322575:T:G p.(Leu110Arg) NC_000007.14:17322575:T:G p.(Leu110Arg) NC_000007.14:17322575:T:G Identity +NM_001017403.2:c.610T>G NP_001017403.1:p.Tyr204Asp NC_000001.11:202276486:T:G p.(Tyr204Asp) NC_000001.11:202276486:T:G p.(Tyr204Asp) NC_000001.11:202276486:T:G Identity +NM_001320032.2:c.2437A>G NP_001306961.1:p.Arg813Gly NC_000003.12:183937901:T:C p.(Arg813Gly) NC_000003.12:183937901:T:C p.(Arg813Gly) NC_000003.12:183937901:T:C Identity +NM_001308319.2:c.1438T>C NP_001295248.1:p.Cys480Arg NC_000016.10:53157526:T:C p.(Cys480Arg) NC_000016.10:53157526:T:C p.(Cys480Arg) NC_000016.10:53157526:T:C Identity +NM_001142640.2:c.2503A>G NP_001136112.2:p.Arg835Gly NC_000017.11:78050934:A:G p.(Arg835Gly) NC_000017.11:78050934:A:G p.(Arg835Gly) NC_000017.11:78050934:A:G Identity +NM_001134398.2:c.1046A>T NP_001127870.1:p.His349Leu NC_000009.12:133795722:T:A p.(His349Leu) NC_000009.12:133795722:T:A p.(His349Leu) NC_000009.12:133795722:T:A Identity +NM_032131.6:c.34C>G NP_115507.4:p.Leu12Val NC_000006.12:108854300:C:G p.(Leu12Val) NC_000006.12:108854300:C:G p.(Leu12Val) NC_000006.12:108854300:C:G Identity +NM_001277233.2:c.435C>A NP_001264162.1:p.Ser145Arg NC_000011.10:65113349:C:A p.(Ser145Arg) NC_000011.10:65113349:C:A p.(Ser145Arg) NC_000011.10:65113349:C:A Identity +NM_013291.3:c.4123G>A NP_037423.2:p.Gly1375Ser NC_000008.11:144393688:C:T p.(Gly1375Ser) NC_000008.11:144393688:C:T p.(Gly1375Ser) NC_000008.11:144393688:C:T Identity +NM_004860.4:c.1838A>G NP_004851.2:p.Asp613Gly NC_000017.11:7592341:T:C p.(Asp613Gly) NC_000017.11:7592341:T:C p.(Asp613Gly) NC_000017.11:7592341:T:C Identity +NM_015986.4:c.939T>G NP_057070.3:p.Cys313Trp NC_000017.11:30792459:A:C p.(Cys313Trp) NC_000017.11:30792459:A:C p.(Cys313Trp) NC_000017.11:30792459:A:C Identity +NM_001001824.2:c.575C>T NP_001001824.1:p.Thr192Ile NC_000001.11:248650309:G:A p.(Thr192Ile) NC_000001.11:248650309:G:A p.(Thr192Ile) NC_000001.11:248650309:G:A Identity +NM_001272011.2:c.235A>C NP_001258940.1:p.Met79Leu NC_000014.9:102251953:T:G p.(Met79Leu) NC_000014.9:102251953:T:G p.(Met79Leu) NC_000014.9:102251953:T:G Identity +NM_018917.4:c.1348A>G NP_061740.2:p.Asn450Asp NC_000005.10:141356454:A:G p.(Asn450Asp) NC_000005.10:141356454:A:G p.(Asn450Asp) NC_000005.10:141356454:A:G Identity +NM_001130080.3:c.315C>G NP_001123552.1:p.Phe105Leu NC_000014.9:94116472:C:G p.(Phe105Leu) NC_000014.9:94116472:C:G p.(Phe105Leu) NC_000014.9:94116472:C:G Identity +NM_001204159.3:c.209C>T NP_001191088.1:p.Thr70Ile NC_000019.10:48626059:C:T p.(Thr70Ile) NC_000019.10:48626059:C:T p.(Thr70Ile) NC_000019.10:48626059:C:T Identity +NM_001080429.3:c.166C>A NP_001073898.1:p.Leu56Met NC_000019.10:7605242:C:A p.(Leu56Met) NC_000019.10:7605242:C:A p.(Leu56Met) NC_000019.10:7605242:C:A Identity +NM_001017981.2:c.917G>A NP_001017981.1:p.Arg306Gln NC_000022.11:30380152:C:T p.(Arg306Gln) NC_000022.11:30380152:C:T p.(Arg306Gln) NC_000022.11:30380152:C:T Identity +NM_001369598.1:c.818G>A NP_001356527.1:p.Arg273His NC_000007.14:117136187:G:A p.(Arg273His) NC_000007.14:117136187:G:A p.(Arg273His) NC_000007.14:117136187:G:A Identity +NM_133259.4:c.2396G>C NP_573566.2:p.Arg799Thr NC_000002.12:43943794:C:G p.(Arg799Thr) NC_000002.12:43943794:C:G p.(Arg799Thr) NC_000002.12:43943794:C:G Identity +NM_001099218.3:c.1855A>G NP_001092688.1:p.Lys619Glu NC_000002.12:17516560:T:C p.(Lys619Glu) NC_000002.12:17516560:T:C p.(Lys619Glu) NC_000002.12:17516560:T:C Identity +NM_001276380.2:c.1951G>T NP_001263309.1:p.Ala651Ser NC_000020.11:13728464:C:A p.(Ala651Ser) NC_000020.11:13728464:C:A p.(Ala651Ser) NC_000020.11:13728464:C:A Identity +NM_001261408.2:c.1630T>G NP_001248337.1:p.Phe544Val NC_000001.11:93582356:A:C p.(Phe544Val) NC_000001.11:93582356:A:C p.(Phe544Val) NC_000001.11:93582356:A:C Identity +NM_005236.3:c.1013A>G NP_005227.1:p.Asn338Ser NC_000016.10:13932195:A:G p.(Asn338Ser) NC_000016.10:13932195:A:G p.(Asn338Ser) NC_000016.10:13932195:A:G Identity +NM_001330609.2:c.241C>G NP_001317538.1:p.Leu81Val NC_000008.11:125078763:G:C p.(Leu81Val) NC_000008.11:125078763:G:C p.(Leu81Val) NC_000008.11:125078763:G:C Identity +NM_001004741.1:c.404G>A NP_001004741.1:p.Arg135Lys NC_000011.10:56577317:C:T p.(Arg135Lys) NC_000011.10:56577317:C:T p.(Arg135Lys) NC_000011.10:56577317:C:T Identity +NM_014051.4:c.271A>T NP_054770.1:p.Ile91Phe NC_000006.12:52686019:A:T p.(Ile91Phe) NC_000006.12:52686019:A:T p.(Ile91Phe) NC_000006.12:52686019:A:T Identity +NM_001319075.2:c.418A>G NP_001306004.1:p.Lys140Glu NC_000002.12:62222637:A:G p.(Lys140Glu) NC_000002.12:62222637:A:G p.(Lys140Glu) NC_000002.12:62222637:A:G Identity +NM_001144989.2:c.1280A>G NP_001138461.1:p.Gln427Arg NC_000019.10:57874109:T:C p.(Gln427Arg) NC_000019.10:57874109:T:C p.(Gln427Arg) NC_000019.10:57874109:T:C Identity +NM_001318202.2:c.1402C>T NP_001305131.1:p.Arg468Trp NC_000016.10:67234467:G:A p.(Arg468Trp) NC_000016.10:67234467:G:A p.(Arg468Trp) NC_000016.10:67234467:G:A Identity +NM_014396.4:c.2557A>G NP_055211.2:p.Lys853Glu NC_000007.14:38726253:T:C p.(Lys853Glu) NC_000007.14:38726253:T:C p.(Lys853Glu) NC_000007.14:38726253:T:C Identity +NM_001113178.3:c.402C>G NP_001106649.1:p.Asn134Lys NC_000016.10:69647175:C:G p.(Asn134Lys) NC_000016.10:69647175:C:G p.(Asn134Lys) NC_000016.10:69647175:C:G Identity +NM_001163257.2:c.4151G>A NP_001156729.1:p.Gly1384Asp NC_000023.11:153775029:G:A p.(Gly1384Asp) NC_000023.11:153775029:G:A p.(Gly1384Asp) NC_000023.11:153775029:G:A Identity +NM_001270943.2:c.467C>T NP_001257872.1:p.Thr156Met NC_000002.12:207123940:G:A p.(Thr156Met) NC_000002.12:207123940:G:A p.(Thr156Met) NC_000002.12:207123940:G:A Identity +NM_001204744.2:c.986A>G NP_001191673.1:p.Glu329Gly NC_000016.10:66913198:T:C p.(Glu329Gly) NC_000016.10:66913198:T:C p.(Glu329Gly) NC_000016.10:66913198:T:C Identity +NM_001164317.2:c.7421C>A NP_001157789.1:p.Thr2474Asn NC_000003.12:58168568:C:A p.(Thr2474Asn) NC_000003.12:58168568:C:A p.(Thr2474Asn) NC_000003.12:58168568:C:A Identity +NM_001289117.2:c.220G>A NP_001276046.1:p.Val74Met NC_000019.10:3938640:G:A p.(Val74Met) NC_000019.10:3938640:G:A p.(Val74Met) NC_000019.10:3938640:G:A Identity +NM_001411098.1:c.755A>C NP_001398027.1:p.Lys252Thr NC_000019.10:40717889:A:C p.(Lys252Thr) NC_000019.10:40717889:A:C p.(Lys252Thr) NC_000019.10:40717889:A:C Identity +NM_001005243.2:c.838T>G NP_001005243.2:p.Ser280Ala NC_000012.12:55130671:T:G p.(Ser280Ala) NC_000012.12:55130671:T:G p.(Ser280Ala) NC_000012.12:55130671:T:G Identity +NM_001042618.2:c.455G>A NP_001036083.1:p.Cys152Tyr NC_000014.9:20351079:G:A p.(Cys152Tyr) NC_000014.9:20351079:G:A p.(Cys152Tyr) NC_000014.9:20351079:G:A Identity +NM_001300861.2:c.358G>A NP_001287790.1:p.Val120Met NC_000011.10:66287666:C:T p.(Val120Met) NC_000011.10:66287666:C:T p.(Val120Met) NC_000011.10:66287666:C:T Identity +NM_001145303.3:c.327C>G NP_001138775.2:p.Ser109Arg NC_000019.10:54169644:G:C p.(Ser109Arg) NC_000019.10:54169644:G:C p.(Ser109Arg) NC_000019.10:54169644:G:C Identity +NM_030613.4:c.347C>A NP_085116.2:p.Ser116Tyr NC_000005.10:178931659:C:A p.(Ser116Tyr) NC_000005.10:178931659:C:A p.(Ser116Tyr) NC_000005.10:178931659:C:A Identity +NM_001172655.1:c.1071T>G NP_001166126.1:p.Ile357Met NC_000019.10:52582931:T:G p.(Ile357Met) NC_000019.10:52582931:T:G p.(Ile357Met) NC_000019.10:52582931:T:G Identity +NM_001017371.5:c.1984G>T NP_001017371.3:p.Ala662Ser NC_000002.12:173910098:C:A p.(Ala662Ser) NC_000002.12:173910098:C:A p.(Ala662Ser) NC_000002.12:173910098:C:A Identity +NM_152701.5:c.4292T>A NP_689914.3:p.Met1431Lys NC_000007.14:48273957:T:A p.(Met1431Lys) NC_000007.14:48273957:T:A p.(Met1431Lys) NC_000007.14:48273957:T:A Identity +NM_004158.5:c.247G>A NP_004149.1:p.Ala83Thr NC_000019.10:6375517:C:T p.(Ala83Thr) NC_000019.10:6375517:C:T p.(Ala83Thr) NC_000019.10:6375517:C:T Identity +NM_001136052.3:c.620A>G NP_001129524.1:p.Gln207Arg NC_000019.10:49701560:A:G p.(Gln207Arg) NC_000019.10:49701560:A:G p.(Gln207Arg) NC_000019.10:49701560:A:G Identity +NM_001063.4:c.1499G>T NP_001054.2:p.Ser500Ile NC_000003.12:133768040:G:T p.(Ser500Ile) NC_000003.12:133768040:G:T p.(Ser500Ile) NC_000003.12:133768040:G:T Identity +NM_001031615.3:c.293A>T NP_001026786.3:p.His98Leu NC_000011.10:67666147:T:A p.(His98Leu) NC_000011.10:67666147:T:A p.(His98Leu) NC_000011.10:67666147:T:A Identity +NM_001365029.1:c.2852T>A NP_001351958.1:p.Met951Lys NC_000009.12:17415845:T:A p.(Met951Lys) NC_000009.12:17415845:T:A p.(Met951Lys) NC_000009.12:17415845:T:A Identity +NM_015057.5:c.8495C>G NP_055872.4:p.Ser2832Cys NC_000013.11:77098658:G:C p.(Ser2832Cys) NC_000013.11:77098658:G:C p.(Ser2832Cys) NC_000013.11:77098658:G:C Identity +NM_001410858.1:c.5314A>T NP_001397787.1:p.Lys1772Ter NC_000018.10:45882477:T:A p.(Lys1772Ter) NC_000018.10:45882477:T:A p.(Lys1772Ter) NC_000018.10:45882477:T:A Identity +NM_001308069.2:c.307G>A NP_001294998.1:p.Ala103Thr NC_000003.12:195156488:C:T p.(Ala103Thr) NC_000003.12:195156488:C:T p.(Ala103Thr) NC_000003.12:195156488:C:T Identity +NM_176782.3:c.1255G>A NP_788954.2:p.Ala419Thr NC_000001.11:54609770:C:T p.(Ala419Thr) NC_000001.11:54609770:C:T p.(Ala419Thr) NC_000001.11:54609770:C:T Identity +NM_001411127.1:c.2192T>C NP_001398056.1:p.Leu731Pro NC_000019.10:40396444:A:G p.(Leu731Pro) NC_000019.10:40396444:A:G p.(Leu731Pro) NC_000019.10:40396444:A:G Identity +NM_020989.4:c.125G>A NP_066269.1:p.Cys42Tyr NC_000002.12:208129567:C:T p.(Cys42Tyr) NC_000002.12:208129567:C:T p.(Cys42Tyr) NC_000002.12:208129567:C:T Identity +NM_016585.5:c.322A>G NP_057669.1:p.Ser108Gly NC_000019.10:374407:T:C p.(Ser108Gly) NC_000019.10:374407:T:C p.(Ser108Gly) NC_000019.10:374407:T:C Identity +NM_001042410.2:c.1709C>T NP_001035869.1:p.Pro570Leu NC_000002.12:219235490:C:T p.(Pro570Leu) NC_000002.12:219235490:C:T p.(Pro570Leu) NC_000002.12:219235490:C:T Identity +NM_003890.3:c.581C>T NP_003881.2:p.Thr194Ile NC_000019.10:39927780:G:A p.(Thr194Ile) NC_000019.10:39927780:G:A p.(Thr194Ile) NC_000019.10:39927780:G:A Identity +NM_005067.7:c.94C>T NP_005058.3:p.Pro32Ser NC_000003.12:150762755:G:A p.(Pro32Ser) NC_000003.12:150762755:G:A p.(Pro32Ser) NC_000003.12:150762755:G:A Identity +NM_001358291.2:c.455A>G NP_001345220.1:p.Gln152Arg NC_000009.12:84001440:A:G p.(Gln152Arg) NC_000009.12:84001440:A:G p.(Gln152Arg) NC_000009.12:84001440:A:G Identity +NM_001204240.2:c.955A>C NP_001191169.1:p.Lys319Gln NC_000022.11:30293766:T:G p.(Lys319Gln) NC_000022.11:30293766:T:G p.(Lys319Gln) NC_000022.11:30293766:T:G Identity +NM_001290083.2:c.479G>T NP_001277012.1:p.Gly160Val NC_000019.10:11617077:G:T p.(Gly160Val) NC_000019.10:11617077:G:T p.(Gly160Val) NC_000019.10:11617077:G:T Identity +NM_001411015.1:c.1985C>G NP_001397944.1:p.Ser662Cys NC_000016.10:3290490:C:G p.(Ser662Cys) NC_000016.10:3290490:C:G p.(Ser662Cys) NC_000016.10:3290490:C:G Identity +NM_001193307.2:c.3024G>A NP_001180236.1:p.Met1008Ile NC_000007.14:93103073:C:T p.(Met1008Ile) NC_000007.14:93103073:C:T p.(Met1008Ile) NC_000007.14:93103073:C:T Identity +NM_001317027.2:c.931G>C NP_001303956.1:p.Glu311Gln NC_000019.10:57927312:C:G p.(Glu311Gln) NC_000019.10:57927312:C:G p.(Glu311Gln) NC_000019.10:57927312:C:G Identity +NM_012337.3:c.1186G>A NP_036469.2:p.Glu396Lys NC_000001.11:159876721:C:T p.(Glu396Lys) NC_000001.11:159876721:C:T p.(Glu396Lys) NC_000001.11:159876721:C:T Identity +NM_001012756.3:c.469A>G NP_001012774.1:p.Ile157Val NC_000019.10:36514769:T:C p.(Ile157Val) NC_000019.10:36514769:T:C p.(Ile157Val) NC_000019.10:36514769:T:C Identity +NM_015325.3:c.53C>G NP_056140.1:p.Ser18Trp NC_000005.10:5422967:C:G p.(Ser18Trp) NC_000005.10:5422967:C:G p.(Ser18Trp) NC_000005.10:5422967:C:G Identity +NM_001243253.2:c.1037A>T NP_001230182.1:p.Glu346Val NC_000005.10:149995311:T:A p.(Glu346Val) NC_000005.10:149995311:T:A p.(Glu346Val) NC_000005.10:149995311:T:A Identity +NM_002016.2:c.5744G>A NP_002007.1:p.Gly1915Glu NC_000001.11:152309141:C:T p.(Gly1915Glu) NC_000001.11:152309141:C:T p.(Gly1915Glu) NC_000001.11:152309141:C:T Identity +NM_001290261.2:c.1130C>T NP_001277190.1:p.Ala377Val NC_000020.11:25676157:G:A p.(Ala377Val) NC_000020.11:25676157:G:A p.(Ala377Val) NC_000020.11:25676157:G:A Identity +NM_001178089.3:c.316G>C NP_001171560.1:p.Asp106His NC_000005.10:178964719:G:C p.(Asp106His) NC_000005.10:178964719:G:C p.(Asp106His) NC_000005.10:178964719:G:C Identity +NM_001127460.4:c.1415C>G NP_001120932.2:p.Thr472Ser NC_000012.12:56325398:G:C p.(Thr472Ser) NC_000012.12:56325398:G:C p.(Thr472Ser) NC_000012.12:56325398:G:C Identity +NM_001077186.2:c.3832C>T NP_001070654.1:p.Arg1278Trp NC_000019.10:50278187:C:T p.(Arg1278Trp) NC_000019.10:50278187:C:T p.(Arg1278Trp) NC_000019.10:50278187:C:T Identity +NM_001068.3:c.2494C>G NP_001059.2:p.Leu832Val NC_000003.12:25623732:G:C p.(Leu832Val) NC_000003.12:25623732:G:C p.(Leu832Val) NC_000003.12:25623732:G:C Identity +NM_030762.3:c.883G>C NP_110389.1:p.Gly295Arg NC_000012.12:26122631:C:G p.(Gly295Arg) NC_000012.12:26122631:C:G p.(Gly295Arg) NC_000012.12:26122631:C:G Identity +NM_001007155.1:c.806C>T NP_001007156.1:p.Thr269Met NC_000015.10:88135999:G:A ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found +NM_001349682.2:c.550G>A NP_001336611.1:p.Ala184Thr NC_000001.11:16017081:C:T p.(Ala184Thr) NC_000001.11:16017081:C:T p.(Ala184Thr) NC_000001.11:16017081:C:T Identity +NM_001007259.3:c.368G>A NP_001007260.1:p.Arg123Gln NC_000021.9:36045939:C:T p.(Arg123Gln) NC_000021.9:36045939:C:T p.(Arg123Gln) NC_000021.9:36045939:C:T Identity +NM_001369780.1:c.352C>A NP_001356709.1:p.Arg118Ser NC_000019.10:35753202:C:A p.(Arg118Ser) NC_000019.10:35753202:C:A p.(Arg118Ser) NC_000019.10:35753202:C:A Identity +NM_001330640.2:c.3046C>A NP_001317569.1:p.Pro1016Thr NC_000009.12:19342673:C:A p.(Pro1016Thr) NC_000009.12:19342673:C:A p.(Pro1016Thr) NC_000009.12:19342673:C:A Identity +NM_001363533.2:c.982A>G NP_001350462.1:p.Met328Val NC_000006.12:17551571:A:G p.(Met328Val) NC_000006.12:17551571:A:G p.(Met328Val) NC_000006.12:17551571:A:G Identity +NM_006407.4:c.274C>T NP_006398.1:p.Arg92Trp NC_000003.12:69101935:C:T p.(Arg92Trp) NC_000003.12:69101935:C:T p.(Arg92Trp) NC_000003.12:69101935:C:T Identity +NM_001256182.2:c.6695G>C NP_001243111.1:p.Arg2232Pro NC_000016.10:89279846:C:G p.(Arg2232Pro) NC_000016.10:89279846:C:G p.(Arg2232Pro) NC_000016.10:89279846:C:G Identity +NM_016001.3:c.1403C>G NP_057085.2:p.Ala468Gly NC_000017.11:51288102:C:G p.(Ala468Gly) NC_000017.11:51288102:C:G p.(Ala468Gly) NC_000017.11:51288102:C:G Identity +NM_001252078.2:c.1693G>A NP_001239007.1:p.Val565Met NC_000012.12:62389836:G:A p.(Val565Met) NC_000012.12:62389836:G:A p.(Val565Met) NC_000012.12:62389836:G:A Identity +NM_001297568.2:c.646C>T NP_001284497.1:p.Arg216Cys NC_000001.11:247156975:G:A p.(Arg216Cys) NC_000001.11:247156975:G:A p.(Arg216Cys) NC_000001.11:247156975:G:A Identity +NM_005876.5:c.3391G>A NP_005867.3:p.Glu1131Lys NC_000002.12:219468947:G:A p.(Glu1131Lys) NC_000002.12:219468947:G:A p.(Glu1131Lys) NC_000002.12:219468947:G:A Identity +NM_001290332.2:c.295A>C NP_001277261.2:p.Thr99Pro NC_000011.10:1835450:A:C p.(Thr99Pro) NC_000011.10:1835450:A:C p.(Thr99Pro) NC_000011.10:1835450:A:C Identity +NM_152784.4:c.2113A>G NP_689997.3:p.Thr705Ala NC_000019.10:5778391:A:G p.(Thr705Ala) NC_000019.10:5778391:A:G p.(Thr705Ala) NC_000019.10:5778391:A:G Identity +NM_001164463.1:c.3517A>G NP_001157935.1:p.Ile1173Val NC_000002.12:112389427:T:C p.(Ile1173Val) NC_000002.12:112389427:T:C p.(Ile1173Val) NC_000002.12:112389427:T:C Identity +NM_178505.8:c.772G>A NP_848600.2:p.Gly258Arg NC_000010.11:61410656:C:T p.(Gly258Arg) NC_000010.11:61410656:C:T p.(Gly258Arg) NC_000010.11:61410656:C:T Identity +NM_001145718.3:c.304G>C NP_001139190.1:p.Glu102Gln NC_000023.11:120875366:C:G p.(Glu102Gln) NC_000023.11:120875366:C:G p.(Glu102Gln) NC_000023.11:120875366:C:G Identity +NM_001164507.2:c.8832T>A NP_001157979.2:p.Ser2944Arg NC_000002.12:151639913:A:T p.(Ser2944Arg) NC_000002.12:151639913:A:T p.(Ser2944Arg) NC_000002.12:151639913:A:T Identity +NM_003223.3:c.932A>T NP_003214.1:p.Asp311Val NC_000016.10:4258139:T:A p.(Asp311Val) NC_000016.10:4258139:T:A p.(Asp311Val) NC_000016.10:4258139:T:A Identity +NM_001031685.3:c.3304G>A NP_001026855.2:p.Glu1102Lys NC_000001.11:223784173:C:T p.(Glu1102Lys) NC_000001.11:223784173:C:T p.(Glu1102Lys) NC_000001.11:223784173:C:T Identity +NM_001130967.3:c.380G>A NP_001124439.1:p.Gly127Asp NC_000012.12:54374013:C:T p.(Gly127Asp) NC_000012.12:54374013:C:T p.(Gly127Asp) NC_000012.12:54374013:C:T Identity +NM_004096.5:c.95A>C NP_004087.1:p.His32Pro NC_000010.11:70404495:A:C p.(His32Pro) NC_000010.11:70404495:A:C p.(His32Pro) NC_000010.11:70404495:A:C Identity +NM_001105538.2:c.3043A>G NP_001099008.1:p.Ile1015Val NC_000017.11:4542507:T:C p.(Ile1015Val) NC_000017.11:4542507:T:C p.(Ile1015Val) NC_000017.11:4542507:T:C Identity +NM_001096.3:c.193C>T NP_001087.2:p.Arg65Cys NC_000017.11:41912508:G:A p.(Arg65Cys) NC_000017.11:41912508:G:A p.(Arg65Cys) NC_000017.11:41912508:G:A Identity +NM_001197233.3:c.961G>A NP_001184162.1:p.Ala321Thr NC_000006.12:26468108:G:A p.(Ala321Thr) NC_000006.12:26468108:G:A p.(Ala321Thr) NC_000006.12:26468108:G:A Identity +NM_001331158.2:c.174T>G NP_001318087.1:p.Ile58Met NC_000014.9:59476205:A:C p.(Ile58Met) NC_000014.9:59476205:A:C p.(Ile58Met) NC_000014.9:59476205:A:C Identity +NM_001098509.2:c.2950G>A NP_001091979.1:p.Asp984Asn NC_000017.11:2379448:G:A p.(Asp984Asn) NC_000017.11:2379448:G:A p.(Asp984Asn) NC_000017.11:2379448:G:A Identity +NM_001104587.2:c.2332C>G NP_001098057.1:p.Arg778Gly NC_000017.11:35352729:G:C p.(Arg778Gly) NC_000017.11:35352729:G:C p.(Arg778Gly) NC_000017.11:35352729:G:C Identity +NM_003856.4:c.245C>G NP_003847.2:p.Ser82Cys NC_000002.12:102339019:C:G p.(Ser82Cys) NC_000002.12:102339019:C:G p.(Ser82Cys) NC_000002.12:102339019:C:G Identity +NM_001122965.1:c.644C>T NP_001116437.1:p.Thr215Ile NC_000001.11:152156454:G:A p.(Thr215Ile) NC_000001.11:152156454:G:A p.(Thr215Ile) NC_000001.11:152156454:G:A Identity +NM_001410908.1:c.934G>C NP_001397837.1:p.Asp312His NC_000007.14:105077127:G:C p.(Asp312His) NC_000007.14:105077127:G:C p.(Asp312His) NC_000007.14:105077127:G:C Identity +NM_001306173.2:c.137C>T NP_001293102.1:p.Pro46Leu NC_000005.10:35040614:G:A p.(Pro46Leu) NC_000005.10:35040614:G:A p.(Pro46Leu) NC_000005.10:35040614:G:A Identity +NM_000676.4:c.605A>T NP_000667.1:p.Tyr202Phe NC_000017.11:15974947:A:T p.(Tyr202Phe) NC_000017.11:15974947:A:T p.(Tyr202Phe) NC_000017.11:15974947:A:T Identity +NM_001001344.3:c.3347G>A NP_001001344.1:p.Arg1116Gln NC_000023.11:153579981:G:A p.(Arg1116Gln) NC_000023.11:153579981:G:A p.(Arg1116Gln) NC_000023.11:153579981:G:A Identity +NM_004975.4:c.1256T>C NP_004966.1:p.Phe419Ser NC_000020.11:49374303:A:G p.(Phe419Ser) NC_000020.11:49374303:A:G p.(Phe419Ser) NC_000020.11:49374303:A:G Identity +NM_001277226.2:c.601A>T NP_001264155.1:p.Ile201Leu NC_000012.12:71553244:A:T p.(Ile201Leu) NC_000012.12:71553244:A:T p.(Ile201Leu) NC_000012.12:71553244:A:T Identity +NM_153603.4:c.1236C>A NP_705831.1:p.Phe412Leu NC_000016.10:23417022:G:T p.(Phe412Leu) NC_000016.10:23417022:G:T p.(Phe412Leu) NC_000016.10:23417022:G:T Identity +NM_080722.4:c.300G>T NP_542453.2:p.Arg100Ser NC_000010.11:70674772:G:T p.(Arg100Ser) NC_000010.11:70674772:G:T p.(Arg100Ser) NC_000010.11:70674772:G:T Identity +NM_005684.5:c.13A>G NP_005675.3:p.Arg5Gly NC_000001.11:174448123:A:G p.(Arg5Gly) NC_000001.11:174448123:A:G p.(Arg5Gly) NC_000001.11:174448123:A:G Identity +NM_153363.3:c.980A>T NP_699194.2:p.Glu327Val NC_000007.14:64266612:A:T p.(Glu327Val) NC_000007.14:64266612:A:T p.(Glu327Val) NC_000007.14:64266612:A:T Identity +NM_018359.5:c.914G>A NP_060829.2:p.Arg305Gln NC_000004.12:185408352:C:T p.(Arg305Gln) NC_000004.12:185408352:C:T p.(Arg305Gln) NC_000004.12:185408352:C:T Identity +NM_001001667.1:c.113T>G NP_001001667.1:p.Met38Arg NC_000007.14:143052452:T:G p.(Met38Arg) NC_000007.14:143052452:T:G p.(Met38Arg) NC_000007.14:143052452:T:G Identity +NM_001145541.1:c.518C>T NP_001139013.1:p.Ala173Val NC_000011.10:33058018:C:T p.(Ala173Val) NC_000011.10:33058018:C:T p.(Ala173Val) NC_000011.10:33058018:C:T Identity +NM_001159293.2:c.1522C>T NP_001152765.1:p.Pro508Ser NC_000019.10:20544680:G:A p.(Pro508Ser) NC_000019.10:20544680:G:A p.(Pro508Ser) NC_000019.10:20544680:G:A Identity +NM_001819.3:c.74A>G NP_001810.2:p.Asn25Ser NC_000020.11:5916349:A:G p.(Asn25Ser) NC_000020.11:5916349:A:G p.(Asn25Ser) NC_000020.11:5916349:A:G Identity +NM_001407805.1:c.1353G>T NP_001394734.1:p.Glu451Asp NC_000019.10:622922:C:A p.(Glu451Asp) NC_000019.10:622922:C:A p.(Glu451Asp) NC_000019.10:622922:C:A Identity +NM_001322434.2:c.613C>T NP_001309363.1:p.Arg205Cys NC_000010.11:68339528:C:T p.(Arg205Cys) NC_000010.11:68339528:C:T p.(Arg205Cys) NC_000010.11:68339528:C:T Identity +NM_004138.4:c.31A>G NP_004129.2:p.Ser11Gly NC_000017.11:41350736:T:C p.(Ser11Gly) NC_000017.11:41350736:T:C p.(Ser11Gly) NC_000017.11:41350736:T:C Identity +NM_001378356.1:c.2777A>G NP_001365285.1:p.Lys926Arg NC_000006.12:118815478:T:C p.(Lys926Arg) NC_000006.12:118815478:T:C p.(Lys926Arg) NC_000006.12:118815478:T:C Identity +NM_178561.5:c.1682C>T NP_848656.2:p.Pro561Leu NC_000007.14:143755976:G:A p.(Pro561Leu) NC_000007.14:143755976:G:A p.(Pro561Leu) NC_000007.14:143755976:G:A Identity +NM_203394.3:c.44G>A NP_976328.2:p.Arg15Lys NC_000012.12:77064591:C:T p.(Arg15Lys) NC_000012.12:77064591:C:T p.(Arg15Lys) NC_000012.12:77064591:C:T Identity +NM_001161425.2:c.782A>G NP_001154897.1:p.Lys261Arg NC_000019.10:52366159:A:G p.(Lys261Arg) NC_000019.10:52366159:A:G p.(Lys261Arg) NC_000019.10:52366159:A:G Identity +NM_001160100.2:c.491A>G NP_001153572.1:p.Asp164Gly NC_000013.11:95577319:A:G p.(Asp164Gly) NC_000013.11:95577319:A:G p.(Asp164Gly) NC_000013.11:95577319:A:G Identity +NM_001008395.4:c.161G>A NP_001008396.1:p.Arg54Gln NC_000007.14:100153475:G:A p.(Arg54Gln) NC_000007.14:100153475:G:A p.(Arg54Gln) NC_000007.14:100153475:G:A Identity +NM_019120.5:c.1973C>T NP_061993.3:p.Thr658Met NC_000005.10:141180006:C:T p.(Thr658Met) NC_000005.10:141180006:C:T p.(Thr658Met) NC_000005.10:141180006:C:T Identity +NM_003292.3:c.2897A>G NP_003283.2:p.Gln966Arg NC_000001.11:186347337:T:C p.(Gln966Arg) NC_000001.11:186347337:T:C p.(Gln966Arg) NC_000001.11:186347337:T:C Identity +NM_001145077.2:c.778G>A NP_001138549.1:p.Glu260Lys NC_000011.10:61509775:G:A p.(Glu260Lys) NC_000011.10:61509775:G:A p.(Glu260Lys) NC_000011.10:61509775:G:A Identity +NM_001365906.3:c.3752A>G NP_001352835.1:p.Gln1251Arg NC_000014.9:73272578:A:G p.(Gln1251Arg) NC_000014.9:73272578:A:G p.(Gln1251Arg) NC_000014.9:73272578:A:G Identity +NM_173481.4:c.421C>T NP_775752.1:p.Arg141Trp NC_000019.10:757366:C:T p.(Arg141Trp) NC_000019.10:757366:C:T p.(Arg141Trp) NC_000019.10:757366:C:T Identity +NM_020752.3:c.3577T>A NP_065803.2:p.Ser1193Thr NC_000010.11:25599202:T:A p.(Ser1193Thr) NC_000010.11:25599202:T:A p.(Ser1193Thr) NC_000010.11:25599202:T:A Identity +NM_001288718.2:c.1072G>A NP_001275647.1:p.Gly358Arg NC_000017.11:42301356:G:A p.(Gly358Arg) NC_000017.11:42301356:G:A p.(Gly358Arg) NC_000017.11:42301356:G:A Identity +NM_001320108.2:c.66C>T NP_001307037.1:p.Asp22= NC_000012.12:56957220:G:A p.(Asp22=) NC_000012.12:56957220:G:A p.(Asp22=) NC_000012.12:56957220:G:A Identity +NM_152731.3:c.443G>T NP_689944.2:p.Cys148Phe NC_000006.12:57015276:G:T p.(Cys148Phe) NC_000006.12:57015276:G:T p.(Cys148Phe) NC_000006.12:57015276:G:T Identity +NM_001190728.1:c.931T>G NP_001177657.1:p.Ser311Ala NC_000009.12:127195110:T:G p.(Ser311Ala) NC_000009.12:127195110:T:G p.(Ser311Ala) NC_000009.12:127195110:T:G Identity +NM_014272.5:c.3119C>A NP_055087.2:p.Thr1040Asn NC_000015.10:78766791:G:T p.(Thr1040Asn) NC_000015.10:78766791:G:T p.(Thr1040Asn) NC_000015.10:78766791:G:T Identity +NM_013391.3:c.211G>A NP_037523.2:p.Ala71Thr NC_000005.10:79063677:C:T p.(Ala71Thr) NC_000005.10:79063677:C:T p.(Ala71Thr) NC_000005.10:79063677:C:T Identity +NM_001335.4:c.418G>A NP_001326.3:p.Ala140Thr NC_000011.10:65882305:G:A p.(Ala140Thr) NC_000011.10:65882305:G:A p.(Ala140Thr) NC_000011.10:65882305:G:A Identity +NM_001320747.2:c.3650G>C NP_001307676.1:p.Arg1217Pro NC_000017.11:76009620:C:G p.(Arg1217Pro) NC_000017.11:76009620:C:G p.(Arg1217Pro) NC_000017.11:76009620:C:G Identity +NM_153236.4:c.83T>A NP_694968.1:p.Ile28Asn NC_000007.14:150520056:T:A p.(Ile28Asn) NC_000007.14:150520056:T:A p.(Ile28Asn) NC_000007.14:150520056:T:A Identity +NM_001366737.1:c.1345C>T NP_001353666.1:p.Leu449Phe NC_000005.10:75028692:G:A p.(Leu449Phe) NC_000005.10:75028692:G:A p.(Leu449Phe) NC_000005.10:75028692:G:A Identity +NM_173489.5:c.2179T>C NP_775760.3:p.Ser727Pro NC_000005.10:41038770:A:G p.(Ser727Pro) NC_000005.10:41038770:A:G p.(Ser727Pro) NC_000005.10:41038770:A:G Identity +NM_001304763.2:c.3328G>C NP_001291692.1:p.Gly1110Arg NC_000001.11:151290822:G:C p.(Gly1110Arg) NC_000001.11:151290822:G:C p.(Gly1110Arg) NC_000001.11:151290822:G:C Identity +NM_019112.4:c.587C>T NP_061985.2:p.Ala196Val NC_000019.10:1043047:C:T p.(Ala196Val) NC_000019.10:1043047:C:T p.(Ala196Val) NC_000019.10:1043047:C:T Identity +NM_005045.4:c.3272T>C NP_005036.2:p.Ile1091Thr NC_000007.14:103603364:A:G p.(Ile1091Thr) NC_000007.14:103603364:A:G p.(Ile1091Thr) NC_000007.14:103603364:A:G Identity +NM_001139466.1:c.488C>T NP_001132938.1:p.Ala163Val NC_000023.11:9688146:C:T p.(Ala163Val) NC_000023.11:9688146:C:T p.(Ala163Val) NC_000023.11:9688146:C:T Identity +NM_147197.2:c.196T>C NP_671730.1:p.Tyr66His NC_000020.11:45649303:A:G p.(Tyr66His) NC_000020.11:45649303:A:G p.(Tyr66His) NC_000020.11:45649303:A:G Identity +NM_006510.5:c.1202C>T NP_006501.1:p.Ala401Val NC_000006.12:28904409:G:A p.(Ala401Val) NC_000006.12:28904409:G:A p.(Ala401Val) NC_000006.12:28904409:G:A Identity +NM_001145053.2:c.161C>A NP_001138525.2:p.Pro54Gln NC_000017.11:29968928:C:A p.(Pro54Gln) NC_000017.11:29968928:C:A p.(Pro54Gln) NC_000017.11:29968928:C:A Identity +NM_003248.6:c.200A>G NP_003239.2:p.Gln67Arg NC_000005.10:80040187:A:G p.(Gln67Arg) NC_000005.10:80040187:A:G p.(Gln67Arg) NC_000005.10:80040187:A:G Identity +NM_001243245.3:c.148C>A NP_001230174.1:p.Pro50Thr NC_000011.10:57389227:G:T p.(Pro50Thr) NC_000011.10:57389227:G:T p.(Pro50Thr) NC_000011.10:57389227:G:T Identity +NM_000048.4:c.866A>C NP_000039.2:p.Asn289Thr NC_000007.14:66089122:A:C p.(Asn289Thr) NC_000007.14:66089122:A:C p.(Asn289Thr) NC_000007.14:66089122:A:C Identity +NM_018158.3:c.1498C>T NP_060628.3:p.Arg500Trp NC_000002.12:27677820:C:T p.(Arg500Trp) NC_000002.12:27677820:C:T p.(Arg500Trp) NC_000002.12:27677820:C:T Identity +NM_001300947.2:c.617G>A NP_001287876.1:p.Arg206His NC_000012.12:69257827:G:A p.(Arg206His) NC_000012.12:69257827:G:A p.(Arg206His) NC_000012.12:69257827:G:A Identity +NM_001145118.2:c.1942A>C NP_001138590.1:p.Ile648Leu NC_000007.14:6509142:T:G p.(Ile648Leu) NC_000007.14:6509142:T:G p.(Ile648Leu) NC_000007.14:6509142:T:G Identity +NM_013941.4:c.218C>A NP_039229.3:p.Thr73Lys NC_000006.12:29440232:C:A p.(Thr73Lys) NC_000006.12:29440232:C:A p.(Thr73Lys) NC_000006.12:29440232:C:A Identity +NM_001350929.2:c.8228T>C NP_001337858.1:p.Val2743Ala NC_000014.9:104946922:A:G p.(Val2743Ala) NC_000014.9:104946922:A:G p.(Val2743Ala) NC_000014.9:104946922:A:G Identity +NM_001199527.3:c.1906C>T NP_001186456.2:p.Pro636Ser NC_000021.9:42111343:C:T p.(Pro636Ser) NC_000021.9:42111343:C:T p.(Pro636Ser) NC_000021.9:42111343:C:T Identity +NM_001040022.1:c.1211C>T NP_001035111.1:p.Ser404Phe NC_000020.11:1927883:C:T p.(Ser404Phe) NC_000020.11:1927883:C:T p.(Ser404Phe) NC_000020.11:1927883:C:T Identity +NM_001195626.3:c.1672T>G NP_001182555.1:p.Ser558Ala NC_000010.11:21682229:T:G p.(Ser558Ala) NC_000010.11:21682229:T:G p.(Ser558Ala) NC_000010.11:21682229:T:G Identity +NM_024523.6:c.61A>G NP_078799.2:p.Ile21Val NC_000007.14:127585121:T:C p.(Ile21Val) NC_000007.14:127585121:T:C p.(Ile21Val) NC_000007.14:127585121:T:C Identity +NM_001141968.2:c.1134G>C NP_001135440.1:p.Arg378Ser NC_000013.11:19423163:C:G p.(Arg378Ser) NC_000013.11:19423163:C:G p.(Arg378Ser) NC_000013.11:19423163:C:G Identity +NM_001194946.2:c.1499C>A NP_001181875.2:p.Ala500Asp NC_000003.12:184322061:C:A p.(Ala500Asp) NC_000003.12:184322061:C:A p.(Ala500Asp) NC_000003.12:184322061:C:A Identity +NM_001031800.3:c.505A>C NP_001026970.1:p.Ser169Arg NC_000001.11:168191488:A:C p.(Ser169Arg) NC_000001.11:168191488:A:C p.(Ser169Arg) NC_000001.11:168191488:A:C Identity +NM_001008949.3:c.1017T>G NP_001008949.1:p.Phe339Leu NC_000002.12:96327647:T:G p.(Phe339Leu) NC_000002.12:96327647:T:G p.(Phe339Leu) NC_000002.12:96327647:T:G Identity +NM_001143766.2:c.649C>T NP_001137238.1:p.Pro217Ser NC_000010.11:30849755:G:A p.(Pro217Ser) NC_000010.11:30849755:G:A p.(Pro217Ser) NC_000010.11:30849755:G:A Identity +NM_001965.4:c.182G>A NP_001956.4:p.Gly61Glu NC_000002.12:73292735:C:T p.(Gly61Glu) NC_000002.12:73292735:C:T p.(Gly61Glu) NC_000002.12:73292735:C:T Identity +NM_032726.4:c.1250C>T NP_116115.1:p.Pro417Leu NC_000002.12:218630779:C:T p.(Pro417Leu) NC_000002.12:218630779:C:T p.(Pro417Leu) NC_000002.12:218630779:C:T Identity +NM_001142864.4:c.1186C>T NP_001136336.2:p.Arg396Trp NC_000016.10:88737567:G:A p.(Arg396Trp) NC_000016.10:88737567:G:A p.(Arg396Trp) NC_000016.10:88737567:G:A Identity +NM_144666.3:c.4667C>T NP_653267.2:p.Ser1556Phe NC_000011.10:6545605:C:T p.(Ser1556Phe) NC_000011.10:6545605:C:T p.(Ser1556Phe) NC_000011.10:6545605:C:T Identity +NM_001386098.1:c.160G>A NP_001373027.1:p.Val54Met NC_000017.11:3420744:G:A p.(Val54Met) NC_000017.11:3420744:G:A p.(Val54Met) NC_000017.11:3420744:G:A Identity +NM_001130914.2:c.830C>T NP_001124386.1:p.Pro277Leu NC_000021.9:17594153:G:A p.(Pro277Leu) NC_000021.9:17594153:G:A p.(Pro277Leu) NC_000021.9:17594153:G:A Identity +NM_198850.4:c.819G>T NP_942147.3:p.Gln273His NC_000019.10:43497123:C:A p.(Gln273His) NC_000019.10:43497123:C:A p.(Gln273His) NC_000019.10:43497123:C:A Identity +NM_001321866.4:c.2011A>G NP_001308795.1:p.Arg671Gly NC_000019.10:52765951:T:C p.(Arg671Gly) NC_000019.10:52765951:T:C p.(Arg671Gly) NC_000019.10:52765951:T:C Identity +NM_001258304.3:c.35C>G NP_001245233.1:p.Pro12Arg NC_000002.12:131528004:C:G p.(Pro12Arg) NC_000002.12:131528004:C:G p.(Pro12Arg) NC_000002.12:131528004:C:G Identity +NM_001323907.2:c.1109C>T NP_001310836.1:p.Ser370Phe NC_000001.11:151118251:C:T p.(Ser370Phe) NC_000001.11:151118251:C:T p.(Ser370Phe) NC_000001.11:151118251:C:T Identity +NM_020962.3:c.3089C>T NP_066013.1:p.Ser1030Phe NC_000015.10:65385921:G:A p.(Ser1030Phe) NC_000015.10:65385921:G:A p.(Ser1030Phe) NC_000015.10:65385921:G:A Identity +NM_001292038.2:c.704T>C NP_001278967.1:p.Val235Ala NC_000004.12:6593195:T:C p.(Val235Ala) NC_000004.12:6593195:T:C p.(Val235Ala) NC_000004.12:6593195:T:C Identity +NM_018672.5:c.1823A>G NP_061142.2:p.Lys608Arg NC_000017.11:69289255:T:C p.(Lys608Arg) NC_000017.11:69289255:T:C p.(Lys608Arg) NC_000017.11:69289255:T:C Identity +NM_001034025.2:c.50T>C NP_001029197.1:p.Leu17Pro NC_000012.12:112013514:T:C p.(Leu17Pro) NC_000012.12:112013514:T:C p.(Leu17Pro) NC_000012.12:112013514:T:C Identity +NM_003922.4:c.3662A>T NP_003913.3:p.Tyr1221Phe NC_000015.10:63723261:T:A p.(Tyr1221Phe) NC_000015.10:63723261:T:A p.(Tyr1221Phe) NC_000015.10:63723261:T:A Identity +NM_001300906.2:c.3721A>G NP_001287835.1:p.Ile1241Val NC_000006.12:82173397:T:C p.(Ile1241Val) NC_000006.12:82173397:T:C p.(Ile1241Val) NC_000006.12:82173397:T:C Identity +NM_001145418.2:c.2407G>A NP_001138890.1:p.Val803Ile NC_000022.11:28107437:C:T p.(Val803Ile) NC_000022.11:28107437:C:T p.(Val803Ile) NC_000022.11:28107437:C:T Identity +NM_001018037.2:c.2189C>T NP_001018047.1:p.Ala730Val NC_000009.12:77252252:C:T p.(Ala730Val) NC_000009.12:77252252:C:T p.(Ala730Val) NC_000009.12:77252252:C:T Identity +NM_001195071.1:c.602G>A NP_001182000.1:p.Arg201Gln NC_000022.11:38226793:C:T p.(Arg201Gln) NC_000022.11:38226793:C:T p.(Arg201Gln) NC_000022.11:38226793:C:T Identity +NM_080830.3:c.73C>A NP_543020.2:p.Gln25Lys NC_000020.11:23452738:G:T p.(Gln25Lys) NC_000020.11:23452738:G:T p.(Gln25Lys) NC_000020.11:23452738:G:T Identity +NM_001184825.2:c.174G>T NP_001171754.1:p.Leu58Phe NC_000019.10:42878168:C:A p.(Leu58Phe) NC_000019.10:42878168:C:A p.(Leu58Phe) NC_000019.10:42878168:C:A Identity +NM_001167749.3:c.3235C>T NP_001161221.1:p.His1079Tyr NC_000001.11:167829322:G:A p.(His1079Tyr) NC_000001.11:167829322:G:A p.(His1079Tyr) NC_000001.11:167829322:G:A Identity +NM_001451.3:c.1013T>C NP_001442.2:p.Met338Thr NC_000016.10:86512957:T:C p.(Met338Thr) NC_000016.10:86512957:T:C p.(Met338Thr) NC_000016.10:86512957:T:C Identity +NM_001083625.3:c.4223C>G NP_001077094.1:p.Thr1408Ser NC_000018.10:9257558:C:G p.(Thr1408Ser) NC_000018.10:9257558:C:G p.(Thr1408Ser) NC_000018.10:9257558:C:G Identity +NM_003105.6:c.2932T>C NP_003096.2:p.Trp978Arg NC_000011.10:121559539:T:C p.(Trp978Arg) NC_000011.10:121559539:T:C p.(Trp978Arg) NC_000011.10:121559539:T:C Identity +NM_001318040.2:c.11C>T NP_001304969.1:p.Pro4Leu NC_000009.12:113876390:C:T p.(Pro4Leu) NC_000009.12:113876390:C:T p.(Pro4Leu) NC_000009.12:113876390:C:T Identity +NM_000727.4:c.380T>C NP_000718.1:p.Leu127Pro NC_000017.11:67055177:T:C p.(Leu127Pro) NC_000017.11:67055177:T:C p.(Leu127Pro) NC_000017.11:67055177:T:C Identity +NM_001363563.2:c.1181G>T NP_001350492.1:p.Trp394Leu NC_000011.10:113946024:G:T p.(Trp394Leu) NC_000011.10:113946024:G:T p.(Trp394Leu) NC_000011.10:113946024:G:T Identity +NM_001394447.1:c.4490G>A NP_001381376.1:p.Ser1497Asn NC_000011.10:85724864:C:T p.(Ser1497Asn) NC_000011.10:85724864:C:T p.(Ser1497Asn) NC_000011.10:85724864:C:T Identity +NM_004799.4:c.1001G>T NP_004790.2:p.Arg334Leu NC_000001.11:52238417:G:T p.(Arg334Leu) NC_000001.11:52238417:G:T p.(Arg334Leu) NC_000001.11:52238417:G:T Identity +NM_001387221.1:c.163C>T NP_001374150.1:p.Pro55Ser NC_000016.10:23149107:G:A p.(Pro55Ser) NC_000016.10:23149107:G:A p.(Pro55Ser) NC_000016.10:23149107:G:A Identity +NM_001014797.3:c.28G>T NP_001014797.1:p.Gly10Cys NC_000010.11:77637614:C:A p.(Gly10Cys) NC_000010.11:77637614:C:A p.(Gly10Cys) NC_000010.11:77637614:C:A Identity +NM_006039.5:c.608G>C NP_006030.2:p.Ser203Thr NC_000017.11:62666180:G:C p.(Ser203Thr) NC_000017.11:62666180:G:C p.(Ser203Thr) NC_000017.11:62666180:G:C Identity +NM_001077206.4:c.2513C>G NP_001070674.1:p.Pro838Arg NC_000004.12:82844498:G:C p.(Pro838Arg) NC_000004.12:82844498:G:C p.(Pro838Arg) NC_000004.12:82844498:G:C Identity +NM_001318324.2:c.3911C>T NP_001305253.1:p.Pro1304Leu NC_000009.12:131197434:C:T p.(Pro1304Leu) NC_000009.12:131197434:C:T p.(Pro1304Leu) NC_000009.12:131197434:C:T Identity +NM_001190995.2:c.872G>A NP_001177924.1:p.Arg291Lys NC_000012.12:30663595:C:T p.(Arg291Lys) NC_000012.12:30663595:C:T p.(Arg291Lys) NC_000012.12:30663595:C:T Identity +NM_002164.6:c.1048G>A NP_002155.1:p.Val350Met NC_000008.11:39928020:G:A p.(Val350Met) NC_000008.11:39928020:G:A p.(Val350Met) NC_000008.11:39928020:G:A Identity +NM_001317950.2:c.599C>T NP_001304879.1:p.Ser200Phe NC_000009.12:114377207:G:A p.(Ser200Phe) NC_000009.12:114377207:G:A p.(Ser200Phe) NC_000009.12:114377207:G:A Identity +NM_001324281.3:c.668G>A NP_001311210.1:p.Arg223Gln NC_000007.14:2944227:C:T p.(Arg223Gln) NC_000007.14:2944227:C:T p.(Arg223Gln) NC_000007.14:2944227:C:T Identity +NM_144717.4:c.827A>T NP_653318.2:p.Lys276Ile NC_000003.12:137010113:A:T p.(Lys276Ile) NC_000003.12:137010113:A:T p.(Lys276Ile) NC_000003.12:137010113:A:T Identity +NM_001199096.2:c.2803C>G NP_001186025.1:p.Leu935Val NC_000016.10:1347706:C:G p.(Leu935Val) NC_000016.10:1347706:C:G p.(Leu935Val) NC_000016.10:1347706:C:G Identity +NM_001017363.4:c.598T>C NP_001017363.1:p.Tyr200His NC_000009.12:34623691:A:G p.(Tyr200His) NC_000009.12:34623691:A:G p.(Tyr200His) NC_000009.12:34623691:A:G Identity +NM_001142502.2:c.128C>T NP_001135974.1:p.Thr43Ile NC_000019.10:45398074:G:A p.(Thr43Ile) NC_000019.10:45398074:G:A p.(Thr43Ile) NC_000019.10:45398074:G:A Identity +NM_144508.5:c.3361T>C NP_653091.3:p.Cys1121Arg NC_000015.10:40623624:T:C p.(Cys1121Arg) NC_000015.10:40623624:T:C p.(Cys1121Arg) NC_000015.10:40623624:T:C Identity +NM_001286568.2:c.2574G>C NP_001273497.1:p.Glu858Asp NC_000002.12:135208893:C:G p.(Glu858Asp) NC_000002.12:135208893:C:G p.(Glu858Asp) NC_000002.12:135208893:C:G Identity +NM_015241.3:c.5324A>C NP_056056.2:p.His1775Pro NC_000022.11:17817336:T:G p.(His1775Pro) NC_000022.11:17817336:T:G p.(His1775Pro) NC_000022.11:17817336:T:G Identity +NM_000939.4:c.271A>C NP_000930.1:p.Asn91His NC_000002.12:25161613:T:G p.(Asn91His) NC_000002.12:25161613:T:G p.(Asn91His) NC_000002.12:25161613:T:G Identity +NM_022772.4:c.1616G>C NP_073609.2:p.Gly539Ala NC_000011.10:725782:G:C p.(Gly539Ala) NC_000011.10:725782:G:C p.(Gly539Ala) NC_000011.10:725782:G:C Identity +NM_003126.4:c.7201C>G NP_003117.2:p.Arg2401Gly NC_000001.11:158611322:G:C p.(Arg2401Gly) NC_000001.11:158611322:G:C p.(Arg2401Gly) NC_000001.11:158611322:G:C Identity +NM_001291876.2:c.5191A>G NP_001278805.2:p.Arg1731Gly NC_000010.11:122087690:A:G p.(Arg1731Gly) NC_000010.11:122087690:A:G p.(Arg1731Gly) NC_000010.11:122087690:A:G Identity +NM_001391943.1:c.433G>A NP_001378872.1:p.Val145Met NC_000011.10:60873445:G:A p.(Val145Met) NC_000011.10:60873445:G:A p.(Val145Met) NC_000011.10:60873445:G:A Identity +NM_016116.3:c.995A>G NP_057200.1:p.His332Arg NC_000007.14:95536452:A:G p.(His332Arg) NC_000007.14:95536452:A:G p.(His332Arg) NC_000007.14:95536452:A:G Identity +NM_001366535.2:c.403G>T NP_001353464.1:p.Ala135Ser NC_000014.9:88841139:G:T p.(Ala135Ser) NC_000014.9:88841139:G:T p.(Ala135Ser) NC_000014.9:88841139:G:T Identity +NM_004274.5:c.2085G>C NP_004265.3:p.Arg695Ser NC_000014.9:32546737:G:C p.(Arg695Ser) NC_000014.9:32546737:G:C p.(Arg695Ser) NC_000014.9:32546737:G:C Identity +NM_001081.4:c.7312G>C NP_001072.2:p.Ala2438Pro NC_000010.11:16915070:C:G p.(Ala2438Pro) NC_000010.11:16915070:C:G p.(Ala2438Pro) NC_000010.11:16915070:C:G Identity +NM_020861.3:c.328G>A NP_065912.1:p.Glu110Lys NC_000006.12:151366737:C:T p.(Glu110Lys) NC_000006.12:151366737:C:T p.(Glu110Lys) NC_000006.12:151366737:C:T Identity +NM_001099220.3:c.806G>A NP_001092690.1:p.Gly269Glu NC_000007.14:149848298:G:A p.(Gly269Glu) NC_000007.14:149848298:G:A p.(Gly269Glu) NC_000007.14:149848298:G:A Identity +NM_001257360.2:c.1862T>C NP_001244289.1:p.Val621Ala NC_000001.11:109629327:T:C ERR:Data provider error: ValueError: Transcript NM_001257360.2 not found ERR:Data provider error: ValueError: Transcript NM_001257360.2 not found ERR:AlignmentMapper(tx_ac=NM_001257360.2, alt_ac=NM_001257360.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001257360.2, alt_ac=NM_001257360.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001257360.2 not found +NM_033225.6:c.3946A>C NP_150094.5:p.Ile1316Leu NC_000008.11:3307698:T:G p.(Ile1316Leu) NC_000008.11:3307698:T:G p.(Ile1316Leu) NC_000008.11:3307698:T:G Identity +NM_001330234.2:c.184A>G NP_001317163.1:p.Asn62Asp NC_000014.9:102265850:T:C p.(Asn62Asp) NC_000014.9:102265850:T:C p.(Asn62Asp) NC_000014.9:102265850:T:C Identity +NM_002207.3:c.1667G>A NP_002198.2:p.Arg556His NC_000003.12:37542562:G:A p.(Arg556His) NC_000003.12:37542562:G:A p.(Arg556His) NC_000003.12:37542562:G:A Identity +NM_001166133.2:c.2324A>G NP_001159605.1:p.Asp775Gly NC_000004.12:78337718:A:G p.(Asp775Gly) NC_000004.12:78337718:A:G p.(Asp775Gly) NC_000004.12:78337718:A:G Identity +NM_001315529.2:c.8999G>T NP_001302458.1:p.Arg3000Leu NC_000021.9:46441050:G:T p.(Arg3000Leu) NC_000021.9:46441050:G:T p.(Arg3000Leu) NC_000021.9:46441050:G:T Identity +NM_001329564.2:c.20C>A NP_001316493.1:p.Ala7Asp NC_000005.10:77077858:G:T p.(Ala7Asp) NC_000005.10:77077858:G:T p.(Ala7Asp) NC_000005.10:77077858:G:T Identity +NM_001098209.2:c.122C>G NP_001091679.1:p.Thr41Ser NC_000003.12:41224633:C:G p.(Thr41Ser) NC_000003.12:41224633:C:G p.(Thr41Ser) NC_000003.12:41224633:C:G Identity +NM_019589.3:c.2971C>T NP_062535.2:p.His991Tyr NC_000014.9:74798267:C:T p.(His991Tyr) NC_000014.9:74798267:C:T p.(His991Tyr) NC_000014.9:74798267:C:T Identity +NM_001286668.2:c.1336G>C NP_001273597.1:p.Glu446Gln NC_000004.12:56351397:C:G p.(Glu446Gln) NC_000004.12:56351397:C:G p.(Glu446Gln) NC_000004.12:56351397:C:G Identity +NM_005250.3:c.244C>T NP_005241.1:p.Arg82Cys NC_000016.10:86578966:C:T p.(Arg82Cys) NC_000016.10:86578966:C:T p.(Arg82Cys) NC_000016.10:86578966:C:T Identity +NM_199461.4:c.776C>T NP_955631.1:p.Ala259Val NC_000010.11:119030576:C:T p.(Ala259Val) NC_000010.11:119030576:C:T p.(Ala259Val) NC_000010.11:119030576:C:T Identity +NM_001076788.2:c.2966G>T NP_001070256.1:p.Gly989Val NC_000013.11:45969577:C:A p.(Gly989Val) NC_000013.11:45969577:C:A p.(Gly989Val) NC_000013.11:45969577:C:A Identity +NM_001040694.2:c.2223G>T NP_001035784.1:p.Glu741Asp NC_000011.10:62148493:G:T p.(Glu741Asp) NC_000011.10:62148493:G:T p.(Glu741Asp) NC_000011.10:62148493:G:T Identity +NM_001258426.2:c.2599A>C NP_001245355.1:p.Thr867Pro NC_000005.10:140371594:A:C p.(Thr867Pro) NC_000005.10:140371594:A:C p.(Thr867Pro) NC_000005.10:140371594:A:C Identity +NM_199340.5:c.2051C>T NP_955372.2:p.Thr684Ile NC_000017.11:64895206:G:A p.(Thr684Ile) NC_000017.11:64895206:G:A p.(Thr684Ile) NC_000017.11:64895206:G:A Identity +NM_001303458.3:c.455T>C NP_001290387.1:p.Ile152Thr NC_000020.11:43605042:T:C p.(Ile152Thr) NC_000020.11:43605042:T:C p.(Ile152Thr) NC_000020.11:43605042:T:C Identity +NM_152512.4:c.422G>T NP_689725.2:p.Arg141Met NC_000022.11:39861934:C:A p.(Arg141Met) NC_000022.11:39861934:C:A p.(Arg141Met) NC_000022.11:39861934:C:A Identity +NM_001199378.2:c.959C>A NP_001186307.1:p.Ala320Asp NC_000010.11:102358676:C:A p.(Ala320Asp) NC_000010.11:102358676:C:A p.(Ala320Asp) NC_000010.11:102358676:C:A Identity +NM_018176.4:c.924T>G NP_060646.2:p.Ser308Arg NC_000004.12:25004164:A:C p.(Ser308Arg) NC_000004.12:25004164:A:C p.(Ser308Arg) NC_000004.12:25004164:A:C Identity +NM_001410934.1:c.5015T>C NP_001397863.1:p.Leu1672Pro NC_000008.11:76852013:T:C p.(Leu1672Pro) NC_000008.11:76852013:T:C p.(Leu1672Pro) NC_000008.11:76852013:T:C Identity +NM_001166691.2:c.2279A>G NP_001160163.1:p.Glu760Gly NC_000006.12:80039846:A:G p.(Glu760Gly) NC_000006.12:80039846:A:G p.(Glu760Gly) NC_000006.12:80039846:A:G Identity +NM_001164680.2:c.1100C>T NP_001158152.1:p.Pro367Leu NC_000003.12:46266203:C:T p.(Pro367Leu) NC_000003.12:46266203:C:T p.(Pro367Leu) NC_000003.12:46266203:C:T Identity +NM_001170538.1:c.1216T>C NP_001164009.1:p.Ser406Pro NC_000003.12:138081751:A:G p.(Ser406Pro) NC_000003.12:138081751:A:G p.(Ser406Pro) NC_000003.12:138081751:A:G Identity +NM_001363341.2:c.64G>C NP_001350270.1:p.Gly22Arg NC_000004.12:151760918:C:G p.(Gly22Arg) NC_000004.12:151760918:C:G p.(Gly22Arg) NC_000004.12:151760918:C:G Identity +NM_005067.7:c.785C>G NP_005058.3:p.Ala262Gly NC_000003.12:150742330:G:C p.(Ala262Gly) NC_000003.12:150742330:G:C p.(Ala262Gly) NC_000003.12:150742330:G:C Identity +NM_024671.4:c.404A>T NP_078947.3:p.Tyr135Phe NC_000016.10:30525735:T:A p.(Tyr135Phe) NC_000016.10:30525735:T:A p.(Tyr135Phe) NC_000016.10:30525735:T:A Identity +NM_002470.4:c.3017A>G NP_002461.2:p.Gln1006Arg NC_000017.11:10639382:T:C p.(Gln1006Arg) NC_000017.11:10639382:T:C p.(Gln1006Arg) NC_000017.11:10639382:T:C Identity +NM_001205206.4:c.1139T>C NP_001192135.1:p.Val380Ala NC_000021.9:45530781:A:G p.(Val380Ala) NC_000021.9:45530781:A:G p.(Val380Ala) NC_000021.9:45530781:A:G Identity +NM_152259.4:c.553C>T NP_689472.3:p.Pro185Ser NC_000015.10:89576138:C:T p.(Pro185Ser) NC_000015.10:89576138:C:T p.(Pro185Ser) NC_000015.10:89576138:C:T Identity +NM_001002261.4:c.755G>T NP_001002261.1:p.Gly252Val NC_000010.11:97750420:G:T p.(Gly252Val) NC_000010.11:97750420:G:T p.(Gly252Val) NC_000010.11:97750420:G:T Identity +NM_001307936.2:c.734T>C NP_001294865.1:p.Phe245Ser NC_000012.12:46363745:A:G p.(Phe245Ser) NC_000012.12:46363745:A:G p.(Phe245Ser) NC_000012.12:46363745:A:G Identity +NM_001134999.2:c.512T>C NP_001128471.1:p.Ile171Thr NC_000014.9:52893306:A:G p.(Ile171Thr) NC_000014.9:52893306:A:G p.(Ile171Thr) NC_000014.9:52893306:A:G Identity +NM_001276293.2:c.844G>A NP_001263222.2:p.Val282Ile NC_000003.12:52476524:G:A p.(Val282Ile) NC_000003.12:52476524:G:A p.(Val282Ile) NC_000003.12:52476524:G:A Identity +NM_021035.3:c.3172C>T NP_066363.1:p.Arg1058Trp NC_000020.11:49252763:G:A p.(Arg1058Trp) NC_000020.11:49252763:G:A p.(Arg1058Trp) NC_000020.11:49252763:G:A Identity +NM_031950.4:c.329C>A NP_114156.1:p.Pro110Gln NC_000004.12:15962800:G:T p.(Pro110Gln) NC_000004.12:15962800:G:T p.(Pro110Gln) NC_000004.12:15962800:G:T Identity +NM_001727.2:c.670G>T NP_001718.1:p.Val224Leu NC_000023.11:136490367:G:T p.(Val224Leu) NC_000023.11:136490367:G:T p.(Val224Leu) NC_000023.11:136490367:G:T Identity +NM_002705.5:c.826G>A NP_002696.4:p.Glu276Lys NC_000016.10:4899062:C:T p.(Glu276Lys) NC_000016.10:4899062:C:T p.(Glu276Lys) NC_000016.10:4899062:C:T Identity +NM_153240.5:c.3331A>G NP_694972.3:p.Thr1111Ala NC_000003.12:132684792:T:C p.(Thr1111Ala) NC_000003.12:132684792:T:C p.(Thr1111Ala) NC_000003.12:132684792:T:C Identity +NM_006071.2:c.436C>G NP_006062.1:p.Arg146Gly NC_000022.11:46262886:G:C p.(Arg146Gly) NC_000022.11:46262886:G:C p.(Arg146Gly) NC_000022.11:46262886:G:C Identity +NM_001083625.3:c.1496G>A NP_001077094.1:p.Arg499Lys NC_000018.10:9254831:G:A p.(Arg499Lys) NC_000018.10:9254831:G:A p.(Arg499Lys) NC_000018.10:9254831:G:A Identity +NM_001286441.2:c.890G>A NP_001273370.1:p.Arg297Gln NC_000015.10:41190102:C:T p.(Arg297Gln) NC_000015.10:41190102:C:T p.(Arg297Gln) NC_000015.10:41190102:C:T Identity +NM_001004451.1:c.928G>A NP_001004451.1:p.Ala310Thr NC_000009.12:122476998:C:T p.(Ala310Thr) NC_000009.12:122476998:C:T p.(Ala310Thr) NC_000009.12:122476998:C:T Identity +NM_001394828.1:c.175A>G NP_001381757.1:p.Lys59Glu NC_000006.12:29427466:T:C p.(Lys59Glu) NC_000006.12:29427466:T:C p.(Lys59Glu) NC_000006.12:29427466:T:C Identity +NM_001304428.2:c.241A>G NP_001291357.1:p.Lys81Glu NC_000005.10:58494776:A:G p.(Lys81Glu) NC_000005.10:58494776:A:G p.(Lys81Glu) NC_000005.10:58494776:A:G Identity +NM_006368.5:c.119C>T NP_006359.3:p.Pro40Leu NC_000009.12:35732890:C:T p.(Pro40Leu) NC_000009.12:35732890:C:T p.(Pro40Leu) NC_000009.12:35732890:C:T Identity +NM_005932.4:c.899C>T NP_005923.3:p.Thr300Met NC_000013.11:23869335:G:A p.(Thr300Met) NC_000013.11:23869335:G:A p.(Thr300Met) NC_000013.11:23869335:G:A Identity +NM_001014436.3:c.120C>G NP_001014436.1:p.Ile40Met NC_000007.14:44050260:C:G p.(Ile40Met) NC_000007.14:44050260:C:G p.(Ile40Met) NC_000007.14:44050260:C:G Identity +NM_005554.4:c.391C>A NP_005545.1:p.Pro131Thr NC_000012.12:52492797:G:T p.(Pro131Thr) NC_000012.12:52492797:G:T p.(Pro131Thr) NC_000012.12:52492797:G:T Identity +NM_001704.3:c.1499G>A NP_001695.2:p.Arg500Lys NC_000006.12:68956782:G:A p.(Arg500Lys) NC_000006.12:68956782:G:A p.(Arg500Lys) NC_000006.12:68956782:G:A Identity +NM_014669.5:c.281A>G NP_055484.3:p.Lys94Arg NC_000016.10:56758638:A:G p.(Lys94Arg) NC_000016.10:56758638:A:G p.(Lys94Arg) NC_000016.10:56758638:A:G Identity +NM_001199281.1:c.2402A>G NP_001186210.1:p.Asp801Gly NC_000022.11:24070968:A:G p.(Asp801Gly) NC_000022.11:24070968:A:G p.(Asp801Gly) NC_000022.11:24070968:A:G Identity +NM_001036.6:c.6178A>T NP_001027.3:p.Met2060Leu NC_000015.10:33697924:A:T p.(Met2060Leu) NC_000015.10:33697924:A:T p.(Met2060Leu) NC_000015.10:33697924:A:T Identity +NM_001080493.4:c.1148C>T NP_001073962.1:p.Thr383Ile NC_000019.10:11722385:G:A p.(Thr383Ile) NC_000019.10:11722385:G:A p.(Thr383Ile) NC_000019.10:11722385:G:A Identity +NM_001365700.3:c.593C>T NP_001352629.1:p.Ala198Val NC_000007.14:134148241:C:T p.(Ala198Val) NC_000007.14:134148241:C:T p.(Ala198Val) NC_000007.14:134148241:C:T Identity +NM_001136571.2:c.95C>A NP_001130043.1:p.Pro32His NC_000013.11:32311830:G:T p.(Pro32His) NC_000013.11:32311830:G:T p.(Pro32His) NC_000013.11:32311830:G:T Identity +NM_000769.4:c.644T>C NP_000760.1:p.Ile215Thr NC_000010.11:94781821:T:C p.(Ile215Thr) NC_000010.11:94781821:T:C p.(Ile215Thr) NC_000010.11:94781821:T:C Identity +NM_001301861.2:c.295C>T NP_001288790.1:p.His99Tyr NC_000003.12:113250751:C:T p.(His99Tyr) NC_000003.12:113250751:C:T p.(His99Tyr) NC_000003.12:113250751:C:T Identity +NM_004224.3:c.1015C>T NP_004215.2:p.Arg339Cys NC_000023.11:151180597:C:T p.(Arg339Cys) NC_000023.11:151180597:C:T p.(Arg339Cys) NC_000023.11:151180597:C:T Identity +NM_001384947.1:c.3306C>A NP_001371876.1:p.His1102Gln NC_000008.11:120278202:C:A p.(His1102Gln) NC_000008.11:120278202:C:A p.(His1102Gln) NC_000008.11:120278202:C:A Identity +NM_002974.4:c.1127A>G NP_002965.1:p.Asn376Ser NC_000018.10:63637764:T:C p.(Asn376Ser) NC_000018.10:63637764:T:C p.(Asn376Ser) NC_000018.10:63637764:T:C Identity +NM_018451.5:c.2005G>A NP_060921.3:p.Glu669Lys NC_000013.11:24906032:C:T p.(Glu669Lys) NC_000013.11:24906032:C:T p.(Glu669Lys) NC_000013.11:24906032:C:T Identity +NM_001367479.1:c.5252C>T NP_001354408.1:p.Thr1751Met NC_000001.11:225153804:C:T p.(Thr1751Met) NC_000001.11:225153804:C:T p.(Thr1751Met) NC_000001.11:225153804:C:T Identity +NM_001198625.2:c.637G>T NP_001185554.1:p.Gly213Trp NC_000008.11:92005137:C:A p.(Gly213Trp) NC_000008.11:92005137:C:A p.(Gly213Trp) NC_000008.11:92005137:C:A Identity +NM_003422.3:c.914T>C NP_003413.2:p.Leu305Pro NC_000019.10:58563362:A:G p.(Leu305Pro) NC_000019.10:58563362:A:G p.(Leu305Pro) NC_000019.10:58563362:A:G Identity +NM_001386583.1:c.106C>G NP_001373512.1:p.Leu36Val NC_000019.10:6760950:G:C p.(Leu36Val) NC_000019.10:6760950:G:C p.(Leu36Val) NC_000019.10:6760950:G:C Identity +NM_144775.3:c.1168C>T NP_658988.2:p.Pro390Ser NC_000017.11:18316956:C:T p.(Pro390Ser) NC_000017.11:18316956:C:T p.(Pro390Ser) NC_000017.11:18316956:C:T Identity +NM_138701.4:c.511A>C NP_619646.1:p.Thr171Pro NC_000007.14:40133087:T:G p.(Thr171Pro) NC_000007.14:40133087:T:G p.(Thr171Pro) NC_000007.14:40133087:T:G Identity +NM_006264.3:c.931A>G NP_006255.1:p.Arg311Gly NC_000004.12:86701536:A:G p.(Arg311Gly) NC_000004.12:86701536:A:G p.(Arg311Gly) NC_000004.12:86701536:A:G Identity +NM_001304482.2:c.4160T>G NP_001291411.1:p.Leu1387Trp NC_000003.12:47412811:T:G p.(Leu1387Trp) NC_000003.12:47412811:T:G p.(Leu1387Trp) NC_000003.12:47412811:T:G Identity +NM_004852.3:c.812C>A NP_004843.2:p.Thr271Asn NC_000018.10:57436527:C:A p.(Thr271Asn) NC_000018.10:57436527:C:A p.(Thr271Asn) NC_000018.10:57436527:C:A Identity +NM_001145030.2:c.980G>A NP_001138502.1:p.Gly327Glu NC_000003.12:44243485:G:A p.(Gly327Glu) NC_000003.12:44243485:G:A p.(Gly327Glu) NC_000003.12:44243485:G:A Identity +NM_001382485.1:c.2344T>C NP_001369414.1:p.Ser782Pro NC_000018.10:56756936:T:C p.(Ser782Pro) NC_000018.10:56756936:T:C p.(Ser782Pro) NC_000018.10:56756936:T:C Identity +NM_175710.2:c.775C>G NP_783641.1:p.Gln259Glu NC_000001.11:207694663:C:G p.(Gln259Glu) NC_000001.11:207694663:C:G p.(Gln259Glu) NC_000001.11:207694663:C:G Identity +NM_001018070.3:c.1410G>T NP_001018080.1:p.Gln470His NC_000011.10:67438435:C:A p.(Gln470His) NC_000011.10:67438435:C:A p.(Gln470His) NC_000011.10:67438435:C:A Identity +NM_001080513.4:c.1297C>G NP_001073982.3:p.Gln433Glu NC_000003.12:194341405:G:C p.(Gln433Glu) NC_000003.12:194341405:G:C p.(Gln433Glu) NC_000003.12:194341405:G:C Identity +NM_001291715.2:c.562T>C NP_001278644.1:p.Cys188Arg NC_000022.11:22550116:A:G p.(Cys188Arg) NC_000022.11:22550116:A:G p.(Cys188Arg) NC_000022.11:22550116:A:G Identity +NM_001002814.3:c.2842A>G NP_001002814.2:p.Lys948Glu NC_000008.11:37871959:T:C p.(Lys948Glu) NC_000008.11:37871959:T:C p.(Lys948Glu) NC_000008.11:37871959:T:C Identity +NM_001200053.1:c.1522G>A NP_001186982.1:p.Gly508Arg NC_000012.12:55955343:C:T p.(Gly508Arg) NC_000012.12:55955343:C:T p.(Gly508Arg) NC_000012.12:55955343:C:T Identity +NM_001256324.2:c.3792G>C NP_001243253.1:p.Arg1264Ser NC_000017.11:50601050:G:C p.(Arg1264Ser) NC_000017.11:50601050:G:C p.(Arg1264Ser) NC_000017.11:50601050:G:C Identity +NM_015201.5:c.293C>T NP_056016.1:p.Thr98Ile NC_000008.11:144289110:G:A p.(Thr98Ile) NC_000008.11:144289110:G:A p.(Thr98Ile) NC_000008.11:144289110:G:A Identity +NM_006511.3:c.671A>G NP_006502.1:p.Asn224Ser NC_000001.11:15660538:A:G p.(Asn224Ser) NC_000001.11:15660538:A:G p.(Asn224Ser) NC_000001.11:15660538:A:G Identity +NM_001289135.3:c.4530C>G NP_001276064.1:p.Asp1510Glu NC_000004.12:20618960:C:G p.(Asp1510Glu) NC_000004.12:20618960:C:G p.(Asp1510Glu) NC_000004.12:20618960:C:G Identity +NM_001329976.2:c.1882G>T NP_001316905.1:p.Val628Phe NC_000008.11:12728995:C:A p.(Val628Phe) NC_000008.11:12728995:C:A p.(Val628Phe) NC_000008.11:12728995:C:A Identity +NM_152473.3:c.970C>A NP_689686.2:p.Leu324Ile NC_000019.10:53015059:C:A p.(Leu324Ile) NC_000019.10:53015059:C:A p.(Leu324Ile) NC_000019.10:53015059:C:A Identity +NM_015180.6:c.13519G>T NP_055995.4:p.Asp4507Tyr NC_000014.9:64125174:G:T p.(Asp4507Tyr) NC_000014.9:64125174:G:T p.(Asp4507Tyr) NC_000014.9:64125174:G:T Identity +NM_001142568.3:c.1753C>T NP_001136040.1:p.Pro585Ser NC_000003.12:107773473:C:T p.(Pro585Ser) NC_000003.12:107773473:C:T p.(Pro585Ser) NC_000003.12:107773473:C:T Identity +NM_001349828.2:c.1292G>A NP_001336757.1:p.Arg431Gln NC_000002.12:219214142:C:T p.(Arg431Gln) NC_000002.12:219214142:C:T p.(Arg431Gln) NC_000002.12:219214142:C:T Identity +NM_001018067.2:c.1073A>G NP_001018077.1:p.Asn358Ser NC_000001.11:67415262:T:C p.(Asn358Ser) NC_000001.11:67415262:T:C p.(Asn358Ser) NC_000001.11:67415262:T:C Identity +NM_017820.5:c.2221G>T NP_060290.3:p.Asp741Tyr NC_000009.12:137309663:C:A p.(Asp741Tyr) NC_000009.12:137309663:C:A p.(Asp741Tyr) NC_000009.12:137309663:C:A Identity +NM_001080435.3:c.1523G>A NP_001073904.1:p.Arg508His NC_000015.10:82826473:G:A p.(Arg508His) NC_000015.10:82826473:G:A p.(Arg508His) NC_000015.10:82826473:G:A Identity +NM_001386095.1:c.326G>A NP_001373024.1:p.Gly109Asp NC_000017.11:58155478:G:A p.(Gly109Asp) NC_000017.11:58155478:G:A p.(Gly109Asp) NC_000017.11:58155478:G:A Identity +NM_001319988.2:c.1839A>G NP_001306917.1:p.Ile613Met NC_000012.12:102196158:A:G p.(Ile613Met) NC_000012.12:102196158:A:G p.(Ile613Met) NC_000012.12:102196158:A:G Identity +NM_004752.4:c.1484T>C NP_004743.1:p.Val495Ala NC_000006.12:10874031:A:G p.(Val495Ala) NC_000006.12:10874031:A:G p.(Val495Ala) NC_000006.12:10874031:A:G Identity +NM_052941.5:c.32C>T NP_443173.2:p.Pro11Leu NC_000001.11:89198802:G:A p.(Pro11Leu) NC_000001.11:89198802:G:A p.(Pro11Leu) NC_000001.11:89198802:G:A Identity +NM_001324318.2:c.1642G>A NP_001311247.1:p.Glu548Lys NC_000016.10:46581991:C:T p.(Glu548Lys) NC_000016.10:46581991:C:T p.(Glu548Lys) NC_000016.10:46581991:C:T Identity +NM_001320537.2:c.334G>A NP_001307466.1:p.Val112Met NC_000021.9:42535533:G:A p.(Val112Met) NC_000021.9:42535533:G:A p.(Val112Met) NC_000021.9:42535533:G:A Identity +NM_001288983.2:c.106A>G NP_001275912.1:p.Asn36Asp NC_000004.12:75982021:T:C p.(Asn36Asp) NC_000004.12:75982021:T:C p.(Asn36Asp) NC_000004.12:75982021:T:C Identity +NM_015050.3:c.1493G>A NP_055865.1:p.Arg498Gln NC_000006.12:37462995:G:A p.(Arg498Gln) NC_000006.12:37462995:G:A p.(Arg498Gln) NC_000006.12:37462995:G:A Identity +NM_001352825.2:c.2095A>G NP_001339754.1:p.Met699Val NC_000017.11:45453756:T:C p.(Met699Val) NC_000017.11:45453756:T:C p.(Met699Val) NC_000017.11:45453756:T:C Identity +NM_001122731.2:c.248C>G NP_001116203.1:p.Ala83Gly NC_000022.11:17906564:G:C p.(Ala83Gly) NC_000022.11:17906564:G:C p.(Ala83Gly) NC_000022.11:17906564:G:C Identity +NM_006575.6:c.1545G>T NP_006566.2:p.Trp515Cys NC_000014.9:50442750:C:A p.(Trp515Cys) NC_000014.9:50442750:C:A p.(Trp515Cys) NC_000014.9:50442750:C:A Identity +NM_004884.4:c.628G>A NP_004875.2:p.Val210Met NC_000015.10:65335347:C:T p.(Val210Met) NC_000015.10:65335347:C:T p.(Val210Met) NC_000015.10:65335347:C:T Identity +NM_001350397.2:c.2243A>G NP_001337326.1:p.Tyr748Cys NC_000004.12:112617798:T:C p.(Tyr748Cys) NC_000004.12:112617798:T:C p.(Tyr748Cys) NC_000004.12:112617798:T:C Identity +NM_001308047.2:c.503T>C NP_001294976.1:p.Leu168Pro NC_000009.12:76846519:A:G p.(Leu168Pro) NC_000009.12:76846519:A:G p.(Leu168Pro) NC_000009.12:76846519:A:G Identity +NM_001354347.2:c.311T>A NP_001341276.2:p.Val104Asp NC_000002.12:189755470:A:T p.(Val104Asp) NC_000002.12:189755470:A:T p.(Val104Asp) NC_000002.12:189755470:A:T Identity +NM_001346201.2:c.2446C>G NP_001333130.1:p.Arg816Gly NC_000012.12:64127698:C:G p.(Arg816Gly) NC_000012.12:64127698:C:G p.(Arg816Gly) NC_000012.12:64127698:C:G Identity +NM_032532.3:c.494G>A NP_115921.2:p.Arg165His NC_000006.12:159214977:G:A p.(Arg165His) NC_000006.12:159214977:G:A p.(Arg165His) NC_000006.12:159214977:G:A Identity +NM_001347886.2:c.5752G>A NP_001334815.1:p.Ala1918Thr NC_000016.10:21019755:C:T p.(Ala1918Thr) NC_000016.10:21019755:C:T p.(Ala1918Thr) NC_000016.10:21019755:C:T Identity +NM_001199880.2:c.95A>T NP_001186809.1:p.Tyr32Phe NC_000008.11:22691427:T:A p.(Tyr32Phe) NC_000008.11:22691427:T:A p.(Tyr32Phe) NC_000008.11:22691427:T:A Identity +NM_032048.3:c.186G>C NP_114437.2:p.Glu62Asp NC_000018.10:2847859:G:C p.(Glu62Asp) NC_000018.10:2847859:G:C p.(Glu62Asp) NC_000018.10:2847859:G:C Identity +NM_001318011.2:c.175C>A NP_001304940.1:p.Arg59Ser NC_000009.12:93110591:C:A p.(Arg59Ser) NC_000009.12:93110591:C:A p.(Arg59Ser) NC_000009.12:93110591:C:A Identity +NM_001204158.3:c.100C>G NP_001191087.1:p.Pro34Ala NC_000019.10:48626127:C:G p.(Pro34Ala) NC_000019.10:48626127:C:G p.(Pro34Ala) NC_000019.10:48626127:C:G Identity +NM_001013647.2:c.1493T>C NP_001013669.1:p.Phe498Ser NC_000022.11:38597242:A:G p.(Phe498Ser) NC_000022.11:38597242:A:G p.(Phe498Ser) NC_000022.11:38597242:A:G Identity +NM_001835.4:c.1237C>T NP_001826.3:p.Pro413Ser NC_000022.11:19233552:G:A p.(Pro413Ser) NC_000022.11:19233552:G:A p.(Pro413Ser) NC_000022.11:19233552:G:A Identity +NM_001017977.3:c.155G>A NP_001017977.1:p.Gly52Asp NC_000001.11:167951856:G:A p.(Gly52Asp) NC_000001.11:167951856:G:A p.(Gly52Asp) NC_000001.11:167951856:G:A Identity +NM_001284259.2:c.4738C>T NP_001271188.1:p.Leu1580Phe NC_000010.11:89760582:C:T p.(Leu1580Phe) NC_000010.11:89760582:C:T p.(Leu1580Phe) NC_000010.11:89760582:C:T Identity +NM_001346194.2:c.529A>G NP_001333123.1:p.Arg177Gly NC_000013.11:96987230:T:C p.(Arg177Gly) NC_000013.11:96987230:T:C p.(Arg177Gly) NC_000013.11:96987230:T:C Identity +NM_001243198.3:c.2395G>A NP_001230127.1:p.Ala799Thr NC_000007.14:75548901:C:T p.(Ala799Thr) NC_000007.14:75548901:C:T p.(Ala799Thr) NC_000007.14:75548901:C:T Identity +NM_030628.2:c.2984A>G NP_085131.1:p.Asn995Ser NC_000011.10:62647095:T:C p.(Asn995Ser) NC_000011.10:62647095:T:C p.(Asn995Ser) NC_000011.10:62647095:T:C Identity +NM_001278185.2:c.692A>G NP_001265114.1:p.Tyr231Cys NC_000010.11:68032862:T:C p.(Tyr231Cys) NC_000010.11:68032862:T:C p.(Tyr231Cys) NC_000010.11:68032862:T:C Identity +NM_001001976.3:c.1364A>G NP_001001976.1:p.Gln455Arg NC_000010.11:121790182:T:C p.(Gln455Arg) NC_000010.11:121790182:T:C p.(Gln455Arg) NC_000010.11:121790182:T:C Identity +NM_001099433.2:c.1678A>G NP_001092903.1:p.Ile560Val NC_000004.12:6056725:T:C p.(Ile560Val) NC_000004.12:6056725:T:C p.(Ile560Val) NC_000004.12:6056725:T:C Identity +NM_001271878.2:c.313C>T NP_001258807.1:p.Pro105Ser NC_000001.11:32014307:C:T p.(Pro105Ser) NC_000001.11:32014307:C:T p.(Pro105Ser) NC_000001.11:32014307:C:T Identity +NM_001287819.3:c.1919C>T NP_001274748.1:p.Ser640Leu NC_000001.11:196333924:G:A p.(Ser640Leu) NC_000001.11:196333924:G:A p.(Ser640Leu) NC_000001.11:196333924:G:A Identity +NM_001163809.2:c.1439T>C NP_001157281.1:p.Met480Thr NC_000017.11:1726397:T:C p.(Met480Thr) NC_000017.11:1726397:T:C p.(Met480Thr) NC_000017.11:1726397:T:C Identity +NM_138287.3:c.1133T>C NP_612144.1:p.Ile378Thr NC_000003.12:122569221:T:C p.(Ile378Thr) NC_000003.12:122569221:T:C p.(Ile378Thr) NC_000003.12:122569221:T:C Identity +NM_001282798.2:c.1040G>A NP_001269727.1:p.Ser347Asn NC_000002.12:135638942:G:A p.(Ser347Asn) NC_000002.12:135638942:G:A p.(Ser347Asn) NC_000002.12:135638942:G:A Identity +NM_001081637.3:c.874G>A NP_001075106.2:p.Gly292Arg NC_000019.10:54632675:G:A p.(Gly292Arg) NC_000019.10:54632675:G:A p.(Gly292Arg) NC_000019.10:54632675:G:A Identity +NM_001281301.2:c.2144G>A NP_001268230.1:p.Arg715Gln NC_000015.10:69446293:G:A p.(Arg715Gln) NC_000015.10:69446293:G:A p.(Arg715Gln) NC_000015.10:69446293:G:A Identity +NM_001042454.3:c.185C>T NP_001035919.1:p.Thr62Met NC_000016.10:31473836:C:T p.(Thr62Met) NC_000016.10:31473836:C:T p.(Thr62Met) NC_000016.10:31473836:C:T Identity +NM_001003931.4:c.286A>G NP_001003931.4:p.Thr96Ala NC_000003.12:51944190:A:G p.(Thr96Ala) NC_000003.12:51944190:A:G p.(Thr96Ala) NC_000003.12:51944190:A:G Identity +NM_001388308.1:c.728G>C NP_001375237.1:p.Ser243Thr NC_000009.12:114096396:C:G p.(Ser243Thr) NC_000009.12:114096396:C:G p.(Ser243Thr) NC_000009.12:114096396:C:G Identity +NM_024702.3:c.1238G>A NP_078978.2:p.Gly413Glu NC_000017.11:82831216:C:T p.(Gly413Glu) NC_000017.11:82831216:C:T p.(Gly413Glu) NC_000017.11:82831216:C:T Identity +NM_001122633.3:c.4483A>G NP_001116105.2:p.Ser1495Gly NC_000002.12:210677964:A:G p.(Ser1495Gly) NC_000002.12:210677964:A:G p.(Ser1495Gly) NC_000002.12:210677964:A:G Identity +NM_000356.4:c.674C>G NP_000347.2:p.Ala225Gly NC_000005.10:150374207:C:G p.(Ala225Gly) NC_000005.10:150374207:C:G p.(Ala225Gly) NC_000005.10:150374207:C:G Identity +NM_001384347.1:c.397A>C NP_001371276.1:p.Ile133Leu NC_000020.11:62195939:A:C p.(Ile133Leu) NC_000020.11:62195939:A:C p.(Ile133Leu) NC_000020.11:62195939:A:C Identity +NM_001127258.3:c.973T>C NP_001120730.1:p.Tyr325His NC_000014.9:99657069:T:C p.(Tyr325His) NC_000014.9:99657069:T:C p.(Tyr325His) NC_000014.9:99657069:T:C Identity +NM_032559.5:c.1753C>T NP_115948.4:p.Pro585Ser NC_000017.11:53824785:C:T p.(Pro585Ser) NC_000017.11:53824785:C:T p.(Pro585Ser) NC_000017.11:53824785:C:T Identity +LRG_1299t1:c.803A>C LRG_1299p1:p.Asn268Thr NC_000004.12:3516146:T:G ERR:Data provider error: ValueError: Transcript LRG_1299t1 not found ERR:Data provider error: ValueError: Transcript LRG_1299t1 not found ERR:AlignmentMapper(tx_ac=LRG_1299t1, alt_ac=LRG_1299t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1299t1, alt_ac=LRG_1299t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1299t1 not found +NM_001330751.2:c.205A>G NP_001317680.1:p.Ile69Val NC_000004.12:23884795:T:C p.(Ile69Val) NC_000004.12:23884795:T:C p.(Ile69Val) NC_000004.12:23884795:T:C Identity +NM_001127214.4:c.1123C>A NP_001120686.1:p.Pro375Thr NC_000016.10:89114483:C:A p.(Pro375Thr) NC_000016.10:89114483:C:A p.(Pro375Thr) NC_000016.10:89114483:C:A Identity +NM_001184741.1:c.92A>G NP_001171670.1:p.Gln31Arg NC_000004.12:154563109:A:G p.(Gln31Arg) NC_000004.12:154563109:A:G p.(Gln31Arg) NC_000004.12:154563109:A:G Identity +NM_004210.5:c.860C>T NP_004201.3:p.Pro287Leu NC_000010.11:103584745:C:T p.(Pro287Leu) NC_000010.11:103584745:C:T p.(Pro287Leu) NC_000010.11:103584745:C:T Identity +NM_001301010.3:c.997T>C NP_001287939.2:p.Phe333Leu NC_000011.10:107525473:A:G p.(Phe333Leu) NC_000011.10:107525473:A:G p.(Phe333Leu) NC_000011.10:107525473:A:G Identity +NM_014614.3:c.467A>G NP_055429.2:p.Lys156Arg NC_000002.12:53948453:T:C p.(Lys156Arg) NC_000002.12:53948453:T:C p.(Lys156Arg) NC_000002.12:53948453:T:C Identity +NM_001014809.3:c.1118G>C NP_001014809.1:p.Ser373Thr NC_000004.12:5841342:C:G p.(Ser373Thr) NC_000004.12:5841342:C:G p.(Ser373Thr) NC_000004.12:5841342:C:G Identity +NM_001011552.4:c.2321G>A NP_001011552.2:p.Arg774Gln NC_000002.12:102532611:G:A p.(Arg774Gln) NC_000002.12:102532611:G:A p.(Arg774Gln) NC_000002.12:102532611:G:A Identity +NM_203403.2:c.656A>C NP_981948.1:p.Lys219Thr NC_000009.12:12821728:A:C p.(Lys219Thr) NC_000009.12:12821728:A:C p.(Lys219Thr) NC_000009.12:12821728:A:C Identity +NM_001163257.2:c.4696C>T NP_001156729.1:p.Leu1566Phe NC_000023.11:153776111:C:T p.(Leu1566Phe) NC_000023.11:153776111:C:T p.(Leu1566Phe) NC_000023.11:153776111:C:T Identity +NM_000246.4:c.1847C>T NP_000237.2:p.Ala616Val NC_000016.10:10907338:C:T p.(Ala616Val) NC_000016.10:10907338:C:T p.(Ala616Val) NC_000016.10:10907338:C:T Identity +NM_001199799.2:c.776G>A NP_001186728.1:p.Arg259Gln NC_000003.12:121994183:C:T p.(Arg259Gln) NC_000003.12:121994183:C:T p.(Arg259Gln) NC_000003.12:121994183:C:T Identity +NM_001386421.1:c.1372G>A NP_001373350.1:p.Glu458Lys NC_000003.12:45967961:C:T p.(Glu458Lys) NC_000003.12:45967961:C:T p.(Glu458Lys) NC_000003.12:45967961:C:T Identity +NM_000887.5:c.934C>T NP_000878.2:p.His312Tyr NC_000016.10:31361134:C:T p.(His312Tyr) NC_000016.10:31361134:C:T p.(His312Tyr) NC_000016.10:31361134:C:T Identity +NM_003171.5:c.127T>G NP_003162.2:p.Ser43Ala NC_000010.11:69180417:T:G p.(Ser43Ala) NC_000010.11:69180417:T:G p.(Ser43Ala) NC_000010.11:69180417:T:G Identity +NM_001080850.4:c.401G>A NP_001074319.1:p.Arg134Gln NC_000001.11:42545554:G:A p.(Arg134Gln) NC_000001.11:42545554:G:A p.(Arg134Gln) NC_000001.11:42545554:G:A Identity +NM_015669.5:c.2200C>T NP_056484.2:p.His734Tyr NC_000005.10:141137633:C:T p.(His734Tyr) NC_000005.10:141137633:C:T p.(His734Tyr) NC_000005.10:141137633:C:T Identity +NM_001004741.1:c.838T>G NP_001004741.1:p.Phe280Val NC_000011.10:56576883:A:C p.(Phe280Val) NC_000011.10:56576883:A:C p.(Phe280Val) NC_000011.10:56576883:A:C Identity +NM_001005493.2:c.154C>T NP_001005493.1:p.Arg52Trp NC_000012.12:55295078:G:A p.(Arg52Trp) NC_000012.12:55295078:G:A p.(Arg52Trp) NC_000012.12:55295078:G:A Identity +NM_001042410.2:c.2007G>T NP_001035869.1:p.Gln669His NC_000002.12:219236044:G:T p.(Gln669His) NC_000002.12:219236044:G:T p.(Gln669His) NC_000002.12:219236044:G:T Identity +NM_001278064.2:c.1178T>A NP_001264993.1:p.Ile393Asn NC_000006.12:146304837:T:A p.(Ile393Asn) NC_000006.12:146304837:T:A p.(Ile393Asn) NC_000006.12:146304837:T:A Identity +NM_001080487.4:c.325G>A NP_001073956.2:p.Val109Met NC_000016.10:88865871:C:T p.(Val109Met) NC_000016.10:88865871:C:T p.(Val109Met) NC_000016.10:88865871:C:T Identity +NM_001198934.2:c.2154G>T NP_001185863.1:p.Glu718Asp NC_000006.12:43441887:G:T p.(Glu718Asp) NC_000006.12:43441887:G:T p.(Glu718Asp) NC_000006.12:43441887:G:T Identity +NM_001376129.1:c.1564G>T NP_001363058.1:p.Gly522Cys NC_000002.12:74493167:G:T p.(Gly522Cys) NC_000002.12:74493167:G:T p.(Gly522Cys) NC_000002.12:74493167:G:T Identity +NM_005242.6:c.743T>C NP_005233.4:p.Ile248Thr NC_000005.10:76833349:T:C p.(Ile248Thr) NC_000005.10:76833349:T:C p.(Ile248Thr) NC_000005.10:76833349:T:C Identity +NM_001284230.2:c.3067A>T NP_001271159.1:p.Ser1023Cys NC_000014.9:70730627:T:A p.(Ser1023Cys) NC_000014.9:70730627:T:A p.(Ser1023Cys) NC_000014.9:70730627:T:A Identity +NM_001242904.2:c.461T>C NP_001229833.1:p.Val154Ala NC_000018.10:11889419:A:G p.(Val154Ala) NC_000018.10:11889419:A:G p.(Val154Ala) NC_000018.10:11889419:A:G Identity +NM_014913.4:c.626T>C NP_055728.1:p.Ile209Thr NC_000018.10:80136038:T:C p.(Ile209Thr) NC_000018.10:80136038:T:C p.(Ile209Thr) NC_000018.10:80136038:T:C Identity +NM_001256024.2:c.1958G>A NP_001242953.1:p.Arg653Gln NC_000010.11:48446577:C:T p.(Arg653Gln) NC_000010.11:48446577:C:T p.(Arg653Gln) NC_000010.11:48446577:C:T Identity +NM_181539.5:c.1169T>C NP_853517.2:p.Leu390Ser NC_000017.11:40768896:A:G p.(Leu390Ser) NC_000017.11:40768896:A:G p.(Leu390Ser) NC_000017.11:40768896:A:G Identity +NM_001077415.3:c.1193C>T NP_001070883.2:p.Ala398Val NC_000003.12:9944508:C:T p.(Ala398Val) NC_000003.12:9944508:C:T p.(Ala398Val) NC_000003.12:9944508:C:T Identity +NM_001014972.3:c.4179C>G NP_001014972.1:p.Ser1393Arg NC_000002.12:71423692:C:G p.(Ser1393Arg) NC_000002.12:71423692:C:G p.(Ser1393Arg) NC_000002.12:71423692:C:G Identity +NM_001099951.4:c.5C>T NP_001093421.1:p.Ala2Val NC_000009.12:35563823:G:A p.(Ala2Val) NC_000009.12:35563823:G:A p.(Ala2Val) NC_000009.12:35563823:G:A Identity +NM_001136019.3:c.1016A>C NP_001129491.1:p.Asp339Ala NC_000019.10:49526036:A:C p.(Asp339Ala) NC_000019.10:49526036:A:C p.(Asp339Ala) NC_000019.10:49526036:A:C Identity +NM_182632.3:c.1525G>A NP_872438.2:p.Gly509Arg NC_000005.10:1244635:G:A p.(Gly509Arg) NC_000005.10:1244635:G:A p.(Gly509Arg) NC_000005.10:1244635:G:A Identity +NM_001255.3:c.302C>T NP_001246.2:p.Pro101Leu NC_000001.11:43359609:C:T p.(Pro101Leu) NC_000001.11:43359609:C:T p.(Pro101Leu) NC_000001.11:43359609:C:T Identity +NM_005963.4:c.3238C>T NP_005954.3:p.Leu1080Phe NC_000017.11:10501784:G:A p.(Leu1080Phe) NC_000017.11:10501784:G:A p.(Leu1080Phe) NC_000017.11:10501784:G:A Identity +NM_181845.2:c.246C>A NP_862828.1:p.Phe82Leu NC_000019.10:43837087:C:A p.(Phe82Leu) NC_000019.10:43837087:C:A p.(Phe82Leu) NC_000019.10:43837087:C:A Identity +NM_001330170.2:c.253G>A NP_001317099.1:p.Ala85Thr NC_000017.11:28883200:C:T p.(Ala85Thr) NC_000017.11:28883200:C:T p.(Ala85Thr) NC_000017.11:28883200:C:T Identity +NM_001017405.3:c.884C>T NP_001017405.1:p.Ser295Leu NC_000004.12:1336978:C:T p.(Ser295Leu) NC_000004.12:1336978:C:T p.(Ser295Leu) NC_000004.12:1336978:C:T Identity +NM_001171818.2:c.1234G>A NP_001165289.1:p.Glu412Lys NC_000006.12:35425986:G:A p.(Glu412Lys) NC_000006.12:35425986:G:A p.(Glu412Lys) NC_000006.12:35425986:G:A Identity +NM_001363546.1:c.698G>C NP_001350475.1:p.Arg233Pro NC_000019.10:15475971:C:G p.(Arg233Pro) NC_000019.10:15475971:C:G p.(Arg233Pro) NC_000019.10:15475971:C:G Identity +NM_001122965.1:c.2249A>G NP_001116437.1:p.His750Arg NC_000001.11:152154849:T:C p.(His750Arg) NC_000001.11:152154849:T:C p.(His750Arg) NC_000001.11:152154849:T:C Identity +NM_001281501.1:c.844A>G NP_001268430.1:p.Ile282Val NC_000011.10:61862998:A:G p.(Ile282Val) NC_000011.10:61862998:A:G p.(Ile282Val) NC_000011.10:61862998:A:G Identity +NM_025059.4:c.91A>G NP_079335.2:p.Thr31Ala NC_000006.12:151536350:A:G p.(Thr31Ala) NC_000006.12:151536350:A:G p.(Thr31Ala) NC_000006.12:151536350:A:G Identity +NM_004784.3:c.2230G>C NP_004775.1:p.Val744Leu NC_000004.12:118240634:G:C p.(Val744Leu) NC_000004.12:118240634:G:C p.(Val744Leu) NC_000004.12:118240634:G:C Identity +NM_001199417.2:c.2607G>C NP_001186346.1:p.Gln869His NC_000017.11:38479860:G:C p.(Gln869His) NC_000017.11:38479860:G:C p.(Gln869His) NC_000017.11:38479860:G:C Identity +NM_000934.4:c.1384G>A NP_000925.2:p.Gly462Ser NC_000017.11:1754441:G:A p.(Gly462Ser) NC_000017.11:1754441:G:A p.(Gly462Ser) NC_000017.11:1754441:G:A Identity +NM_000641.4:c.508G>T NP_000632.1:p.Gly170Cys NC_000019.10:55366098:C:A p.(Gly170Cys) NC_000019.10:55366098:C:A p.(Gly170Cys) NC_000019.10:55366098:C:A Identity +NM_001284214.2:c.88A>G NP_001271143.1:p.Ile30Val NC_000002.12:229879991:T:C p.(Ile30Val) NC_000002.12:229879991:T:C p.(Ile30Val) NC_000002.12:229879991:T:C Identity +NM_001031748.4:c.782C>G NP_001026918.2:p.Thr261Ser NC_000012.12:39682705:C:G p.(Thr261Ser) NC_000012.12:39682705:C:G p.(Thr261Ser) NC_000012.12:39682705:C:G Identity +NM_001242581.2:c.1562C>T NP_001229510.1:p.Thr521Ile NC_000020.11:19975439:C:T p.(Thr521Ile) NC_000020.11:19975439:C:T p.(Thr521Ile) NC_000020.11:19975439:C:T Identity +NM_001145017.2:c.770C>T NP_001138489.1:p.Ser257Leu NC_000005.10:151287306:G:A p.(Ser257Leu) NC_000005.10:151287306:G:A p.(Ser257Leu) NC_000005.10:151287306:G:A Identity +NM_015868.3:c.743T>C NP_056952.2:p.Ile248Thr NC_000019.10:54751675:T:C p.(Ile248Thr) NC_000019.10:54751675:T:C p.(Ile248Thr) NC_000019.10:54751675:T:C Identity +NM_001080495.3:c.7077T>A NP_001073964.2:p.Ser2359Arg NC_000007.14:5313813:A:T p.(Ser2359Arg) NC_000007.14:5313813:A:T p.(Ser2359Arg) NC_000007.14:5313813:A:T Identity +NM_001172774.2:c.1007G>A NP_001166245.1:p.Ser336Asn NC_000019.10:32454957:G:A p.(Ser336Asn) NC_000019.10:32454957:G:A p.(Ser336Asn) NC_000019.10:32454957:G:A Identity +NM_015356.5:c.3119A>C NP_056171.3:p.Lys1040Thr NC_000008.11:143804046:T:G p.(Lys1040Thr) NC_000008.11:143804046:T:G p.(Lys1040Thr) NC_000008.11:143804046:T:G Identity +NM_001278201.2:c.1070C>A NP_001265130.1:p.Thr357Asn NC_000011.10:57410111:G:T p.(Thr357Asn) NC_000011.10:57410111:G:T p.(Thr357Asn) NC_000011.10:57410111:G:T Identity +NM_001174108.2:c.1372C>T NP_001167579.1:p.Pro458Ser NC_000001.11:203798893:C:T p.(Pro458Ser) NC_000001.11:203798893:C:T p.(Pro458Ser) NC_000001.11:203798893:C:T Identity +NM_005527.4:c.874G>A NP_005518.3:p.Gly292Ser NC_000006.12:31811098:C:T p.(Gly292Ser) NC_000006.12:31811098:C:T p.(Gly292Ser) NC_000006.12:31811098:C:T Identity +NM_001172623.2:c.275T>C NP_001166094.1:p.Phe92Ser NC_000015.10:73116683:T:C p.(Phe92Ser) NC_000015.10:73116683:T:C p.(Phe92Ser) NC_000015.10:73116683:T:C Identity +NM_001142448.2:c.1060G>A NP_001135920.1:p.Ala354Thr NC_000016.10:28982449:G:A p.(Ala354Thr) NC_000016.10:28982449:G:A p.(Ala354Thr) NC_000016.10:28982449:G:A Identity +NM_001286754.2:c.3588A>C NP_001273683.1:p.Arg1196Ser NC_000004.12:119057828:A:C p.(Arg1196Ser) NC_000004.12:119057828:A:C p.(Arg1196Ser) NC_000004.12:119057828:A:C Identity +NM_001346505.2:c.3520G>A NP_001333434.1:p.Glu1174Lys NC_000006.12:148548468:G:A p.(Glu1174Lys) NC_000006.12:148548468:G:A p.(Glu1174Lys) NC_000006.12:148548468:G:A Identity +NM_001127698.2:c.2063G>C NP_001121170.1:p.Arg688Thr NC_000005.10:148116416:G:C p.(Arg688Thr) NC_000005.10:148116416:G:C p.(Arg688Thr) NC_000005.10:148116416:G:C Identity +NM_001291860.2:c.9166G>C NP_001278789.1:p.Glu3056Gln NC_000001.11:21842031:C:G p.(Glu3056Gln) NC_000001.11:21842031:C:G p.(Glu3056Gln) NC_000001.11:21842031:C:G Identity +NM_014433.3:c.1004G>A NP_055248.1:p.Arg335Gln NC_000022.11:23059504:C:T p.(Arg335Gln) NC_000022.11:23059504:C:T p.(Arg335Gln) NC_000022.11:23059504:C:T Identity +NM_001099666.2:c.953A>G NP_001093136.1:p.His318Arg NC_000009.12:69718678:T:C p.(His318Arg) NC_000009.12:69718678:T:C p.(His318Arg) NC_000009.12:69718678:T:C Identity +NM_153710.5:c.384C>G NP_714921.4:p.Ile128Met NC_000009.12:133387535:C:G p.(Ile128Met) NC_000009.12:133387535:C:G p.(Ile128Met) NC_000009.12:133387535:C:G Identity +NM_001083588.2:c.574G>T NP_001077057.1:p.Ala192Ser NC_000008.11:85207447:G:T p.(Ala192Ser) NC_000008.11:85207447:G:T p.(Ala192Ser) NC_000008.11:85207447:G:T Identity +NM_001330520.3:c.175A>T NP_001317449.1:p.Ile59Leu NC_000016.10:24776943:A:T p.(Ile59Leu) NC_000016.10:24776943:A:T p.(Ile59Leu) NC_000016.10:24776943:A:T Identity +NM_016567.4:c.13T>C NP_057651.1:p.Ser5Pro NC_000010.11:125823569:T:C p.(Ser5Pro) NC_000010.11:125823569:T:C p.(Ser5Pro) NC_000010.11:125823569:T:C Identity +NM_000876.4:c.475G>A NP_000867.3:p.Ala159Thr NC_000006.12:160010746:G:A p.(Ala159Thr) NC_000006.12:160010746:G:A p.(Ala159Thr) NC_000006.12:160010746:G:A Identity +NM_001329928.2:c.323G>A NP_001316857.1:p.Arg108Gln NC_000016.10:66884606:G:A p.(Arg108Gln) NC_000016.10:66884606:G:A p.(Arg108Gln) NC_000016.10:66884606:G:A Identity +NM_001306079.2:c.2597C>A NP_001293008.1:p.Thr866Asn NC_000002.12:27232587:C:A p.(Thr866Asn) NC_000002.12:27232587:C:A p.(Thr866Asn) NC_000002.12:27232587:C:A Identity +NM_145296.2:c.16C>A NP_660339.1:p.Arg6Ser NC_000019.10:43639774:G:T p.(Arg6Ser) NC_000019.10:43639774:G:T p.(Arg6Ser) NC_000019.10:43639774:G:T Identity +NM_001252119.2:c.3541C>T NP_001239048.1:p.Leu1181Phe NC_000002.12:241112252:G:A p.(Leu1181Phe) NC_000002.12:241112252:G:A p.(Leu1181Phe) NC_000002.12:241112252:G:A Identity +NM_001286561.2:c.1868A>G NP_001273490.1:p.Gln623Arg NC_000011.10:72015634:T:C p.(Gln623Arg) NC_000011.10:72015634:T:C p.(Gln623Arg) NC_000011.10:72015634:T:C Identity +NM_001098415.1:c.2007T>A NP_001091885.1:p.Asn669Lys NC_000012.12:47789896:A:T ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found +NM_001286562.2:c.61T>C NP_001273491.1:p.Phe21Leu NC_000006.12:151464477:T:C p.(Phe21Leu) NC_000006.12:151464477:T:C p.(Phe21Leu) NC_000006.12:151464477:T:C Identity +NM_153702.4:c.629A>G NP_714913.1:p.Asn210Ser NC_000004.12:140543478:A:G p.(Asn210Ser) NC_000004.12:140543478:A:G p.(Asn210Ser) NC_000004.12:140543478:A:G Identity +NM_001318195.2:c.182A>G NP_001305124.1:p.Lys61Arg NC_000009.12:122152277:T:C p.(Lys61Arg) NC_000009.12:122152277:T:C p.(Lys61Arg) NC_000009.12:122152277:T:C Identity +NM_001005290.4:c.347C>G NP_001005290.1:p.Thr116Ser NC_000001.11:109281790:G:C p.(Thr116Ser) NC_000001.11:109281790:G:C p.(Thr116Ser) NC_000001.11:109281790:G:C Identity +NM_001377523.1:c.1741G>A NP_001364452.1:p.Asp581Asn NC_000014.9:21351117:G:A p.(Asp581Asn) NC_000014.9:21351117:G:A p.(Asp581Asn) NC_000014.9:21351117:G:A Identity +NM_001256617.2:c.2200T>A NP_001243546.1:p.Trp734Arg NC_000010.11:133283910:A:T p.(Trp734Arg) NC_000010.11:133283910:A:T p.(Trp734Arg) NC_000010.11:133283910:A:T Identity +NM_001009814.2:c.1787G>A NP_001009814.1:p.Gly596Glu NC_000013.11:41819299:C:T p.(Gly596Glu) NC_000013.11:41819299:C:T p.(Gly596Glu) NC_000013.11:41819299:C:T Identity +NM_000771.4:c.250A>G NP_000762.2:p.Lys84Glu NC_000010.11:94941938:A:G p.(Lys84Glu) NC_000010.11:94941938:A:G p.(Lys84Glu) NC_000010.11:94941938:A:G Identity +NM_001099432.3:c.931C>T NP_001092902.1:p.Arg311Trp NC_000017.11:60910639:C:T p.(Arg311Trp) NC_000017.11:60910639:C:T p.(Arg311Trp) NC_000017.11:60910639:C:T Identity +NM_003386.3:c.3080C>A NP_003377.2:p.Thr1027Asn NC_000007.14:100753184:C:A p.(Thr1027Asn) NC_000007.14:100753184:C:A p.(Thr1027Asn) NC_000007.14:100753184:C:A Identity +NM_001163278.2:c.5978C>G NP_001156750.1:p.Thr1993Ser NC_000023.11:124385774:G:C p.(Thr1993Ser) NC_000023.11:124385774:G:C p.(Thr1993Ser) NC_000023.11:124385774:G:C Identity +NM_001200001.2:c.466G>A NP_001186930.1:p.Gly156Arg NC_000001.11:119997281:C:T p.(Gly156Arg) NC_000001.11:119997281:C:T p.(Gly156Arg) NC_000001.11:119997281:C:T Identity +NM_001128427.3:c.547T>C NP_001121899.1:p.Phe183Leu NC_000004.12:161775933:A:G p.(Phe183Leu) NC_000004.12:161775933:A:G p.(Phe183Leu) NC_000004.12:161775933:A:G Identity +NM_001161476.3:c.77A>G NP_001154948.1:p.His26Arg NC_000014.9:100381000:A:G p.(His26Arg) NC_000014.9:100381000:A:G p.(His26Arg) NC_000014.9:100381000:A:G Identity +NM_001145721.1:c.994G>A NP_001139193.1:p.Ala332Thr NC_000019.10:18929525:C:T p.(Ala332Thr) NC_000019.10:18929525:C:T p.(Ala332Thr) NC_000019.10:18929525:C:T Identity +NM_001385619.1:c.2956T>C NP_001372548.1:p.Ser986Pro NC_000005.10:124647427:A:G p.(Ser986Pro) NC_000005.10:124647427:A:G p.(Ser986Pro) NC_000005.10:124647427:A:G Identity +NM_018137.3:c.349T>A NP_060607.2:p.Trp117Arg NC_000001.11:107057063:T:A p.(Trp117Arg) NC_000001.11:107057063:T:A p.(Trp117Arg) NC_000001.11:107057063:T:A Identity +NM_001323971.2:c.1669A>G NP_001310900.1:p.Met557Val NC_000016.10:67259614:A:G p.(Met557Val) NC_000016.10:67259614:A:G p.(Met557Val) NC_000016.10:67259614:A:G Identity +NM_001040424.3:c.2384G>A NP_001035514.2:p.Arg795Gln NC_000021.9:41815712:C:T p.(Arg795Gln) NC_000021.9:41815712:C:T p.(Arg795Gln) NC_000021.9:41815712:C:T Identity +NM_001161498.2:c.859A>C NP_001154970.1:p.Asn287His NC_000014.9:69526057:A:C p.(Asn287His) NC_000014.9:69526057:A:C p.(Asn287His) NC_000014.9:69526057:A:C Identity +NM_001377236.1:c.2087T>G NP_001364165.1:p.Leu696Arg NC_000005.10:434826:T:G p.(Leu696Arg) NC_000005.10:434826:T:G p.(Leu696Arg) NC_000005.10:434826:T:G Identity +NM_015627.3:c.403A>G NP_056442.2:p.Ser135Gly NC_000001.11:25557210:A:G p.(Ser135Gly) NC_000001.11:25557210:A:G p.(Ser135Gly) NC_000001.11:25557210:A:G Identity +NM_001098623.2:c.5843A>G NP_001092093.2:p.Gln1948Arg NC_000001.11:228274730:A:G p.(Gln1948Arg) NC_000001.11:228274730:A:G p.(Gln1948Arg) NC_000001.11:228274730:A:G Identity +NM_001322178.2:c.3086G>T NP_001309107.1:p.Arg1029Met NC_000016.10:76539733:G:T p.(Arg1029Met) NC_000016.10:76539733:G:T p.(Arg1029Met) NC_000016.10:76539733:G:T Identity +NM_015144.3:c.3085G>A NP_055959.2:p.Val1029Met NC_000016.10:87411635:C:T p.(Val1029Met) NC_000016.10:87411635:C:T p.(Val1029Met) NC_000016.10:87411635:C:T Identity +NM_032272.5:c.190A>C NP_115648.2:p.Thr64Pro NC_000008.11:144105974:A:C p.(Thr64Pro) NC_000008.11:144105974:A:C p.(Thr64Pro) NC_000008.11:144105974:A:C Identity +NM_001320759.2:c.2141A>G NP_001307688.1:p.Asn714Ser NC_000017.11:18278075:T:C p.(Asn714Ser) NC_000017.11:18278075:T:C p.(Asn714Ser) NC_000017.11:18278075:T:C Identity +NM_001143885.2:c.1650T>G NP_001137357.1:p.His550Gln NC_000012.12:79807230:A:C p.(His550Gln) NC_000012.12:79807230:A:C p.(His550Gln) NC_000012.12:79807230:A:C Identity +NM_001330121.2:c.1422C>A NP_001317050.1:p.Asn474Lys NC_000012.12:57269976:G:T p.(Asn474Lys) NC_000012.12:57269976:G:T p.(Asn474Lys) NC_000012.12:57269976:G:T Identity +NM_032139.3:c.1639G>T NP_115515.2:p.Ala547Ser NC_000019.10:32622609:C:A p.(Ala547Ser) NC_000019.10:32622609:C:A p.(Ala547Ser) NC_000019.10:32622609:C:A Identity +NM_015603.3:c.1302G>C NP_056418.1:p.Glu434Asp NC_000019.10:47271383:G:C p.(Glu434Asp) NC_000019.10:47271383:G:C p.(Glu434Asp) NC_000019.10:47271383:G:C Identity +NM_001080973.1:c.1529A>C NP_001074442.1:p.His510Pro NC_000003.12:57098173:T:G ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found +NM_001727.2:c.22T>C NP_001718.1:p.Ser8Pro NC_000023.11:136488135:T:C p.(Ser8Pro) NC_000023.11:136488135:T:C p.(Ser8Pro) NC_000023.11:136488135:T:C Identity +NM_001080951.3:c.432A>C NP_001074420.1:p.Glu144Asp NC_000006.12:143942383:T:G p.(Glu144Asp) NC_000006.12:143942383:T:G p.(Glu144Asp) NC_000006.12:143942383:T:G Identity +NM_031957.2:c.34C>T NP_114163.1:p.Pro12Ser NC_000017.11:41027121:G:A p.(Pro12Ser) NC_000017.11:41027121:G:A p.(Pro12Ser) NC_000017.11:41027121:G:A Identity +NM_014810.5:c.655A>G NP_055625.4:p.Met219Val NC_000001.11:179996811:A:G p.(Met219Val) NC_000001.11:179996811:A:G p.(Met219Val) NC_000001.11:179996811:A:G Identity +NM_001171971.3:c.401G>C NP_001165442.1:p.Arg134Thr NC_000010.11:84199083:G:C p.(Arg134Thr) NC_000010.11:84199083:G:C p.(Arg134Thr) NC_000010.11:84199083:G:C Identity +NM_001507.1:c.1151G>A NP_001498.1:p.Arg384Lys NC_000013.11:49222288:G:A p.(Arg384Lys) NC_000013.11:49222288:G:A p.(Arg384Lys) NC_000013.11:49222288:G:A Identity +NM_001270453.2:c.1868A>G NP_001257382.1:p.Tyr623Cys NC_000016.10:69937215:A:G p.(Tyr623Cys) NC_000016.10:69937215:A:G p.(Tyr623Cys) NC_000016.10:69937215:A:G Identity +NM_005864.4:c.157G>A NP_005855.1:p.Gly53Ser NC_000014.9:23360694:C:T p.(Gly53Ser) NC_000014.9:23360694:C:T p.(Gly53Ser) NC_000014.9:23360694:C:T Identity +NM_001172309.2:c.1357T>G NP_001165780.1:p.Phe453Val NC_000001.11:77942097:T:G p.(Phe453Val) NC_000001.11:77942097:T:G p.(Phe453Val) NC_000001.11:77942097:T:G Identity +NM_001318230.2:c.1208A>G NP_001305159.1:p.Asp403Gly NC_000009.12:35609548:A:G p.(Asp403Gly) NC_000009.12:35609548:A:G p.(Asp403Gly) NC_000009.12:35609548:A:G Identity +NM_001111307.2:c.2573C>A NP_001104777.1:p.Ala858Asp NC_000019.10:10467532:C:A p.(Ala858Asp) NC_000019.10:10467532:C:A p.(Ala858Asp) NC_000019.10:10467532:C:A Identity +NM_001009991.4:c.965G>A NP_001009991.2:p.Arg322Gln NC_000006.12:158757241:G:A p.(Arg322Gln) NC_000006.12:158757241:G:A p.(Arg322Gln) NC_000006.12:158757241:G:A Identity +NM_001286643.1:c.493G>T NP_001273572.1:p.Asp165Tyr NC_000008.11:96251089:C:A p.(Asp165Tyr) NC_000008.11:96251089:C:A p.(Asp165Tyr) NC_000008.11:96251089:C:A Identity +NM_001102575.2:c.332A>G NP_001096045.1:p.Gln111Arg NC_000005.10:54518283:A:G p.(Gln111Arg) NC_000005.10:54518283:A:G p.(Gln111Arg) NC_000005.10:54518283:A:G Identity +NM_001286574.2:c.994A>G NP_001273503.1:p.Ser332Gly NC_000006.12:35748840:A:G p.(Ser332Gly) NC_000006.12:35748840:A:G p.(Ser332Gly) NC_000006.12:35748840:A:G Identity +NM_153209.4:c.2356G>T NP_694941.2:p.Ala786Ser NC_000017.11:74354208:G:T p.(Ala786Ser) NC_000017.11:74354208:G:T p.(Ala786Ser) NC_000017.11:74354208:G:T Identity +NM_001010872.3:c.426G>T NP_001010872.1:p.Met142Ile NC_000006.12:54870671:G:T p.(Met142Ile) NC_000006.12:54870671:G:T p.(Met142Ile) NC_000006.12:54870671:G:T Identity +NM_002458.3:c.10883G>A NP_002449.2:p.Arg3628Gln NC_000011.10:1247762:G:A p.(Arg3628Gln) NC_000011.10:1247762:G:A p.(Arg3628Gln) NC_000011.10:1247762:G:A Identity +NM_001348250.2:c.1558A>G NP_001335179.1:p.Thr520Ala NC_000003.12:11034560:A:G p.(Thr520Ala) NC_000003.12:11034560:A:G p.(Thr520Ala) NC_000003.12:11034560:A:G Identity +NM_015144.3:c.2795G>A NP_055959.2:p.Gly932Asp NC_000016.10:87411925:C:T p.(Gly932Asp) NC_000016.10:87411925:C:T p.(Gly932Asp) NC_000016.10:87411925:C:T Identity +NM_001161528.2:c.1943C>G NP_001155000.1:p.Ser648Cys NC_000007.14:92159177:G:C p.(Ser648Cys) NC_000007.14:92159177:G:C p.(Ser648Cys) NC_000007.14:92159177:G:C Identity +NM_001204747.2:c.2360T>C NP_001191676.1:p.Ile787Thr NC_000004.12:39302578:A:G p.(Ile787Thr) NC_000004.12:39302578:A:G p.(Ile787Thr) NC_000004.12:39302578:A:G Identity +NM_001281428.2:c.1340A>G NP_001268357.1:p.Asp447Gly NC_000009.12:34512124:A:G p.(Asp447Gly) NC_000009.12:34512124:A:G p.(Asp447Gly) NC_000009.12:34512124:A:G Identity +NM_001411052.1:c.2923G>A NP_001397981.1:p.Gly975Ser NC_000014.9:74810232:G:A p.(Gly975Ser) NC_000014.9:74810232:G:A p.(Gly975Ser) NC_000014.9:74810232:G:A Identity +NM_018958.3:c.88C>T NP_061831.2:p.Arg30Trp NC_000015.10:24675954:C:T p.(Arg30Trp) NC_000015.10:24675954:C:T p.(Arg30Trp) NC_000015.10:24675954:C:T Identity +NM_001835.4:c.2184T>G NP_001826.3:p.His728Gln NC_000022.11:19223998:A:C p.(His728Gln) NC_000022.11:19223998:A:C p.(His728Gln) NC_000022.11:19223998:A:C Identity +NM_001198665.2:c.1403G>A NP_001185594.1:p.Arg468His NC_000011.10:120446955:G:A p.(Arg468His) NC_000011.10:120446955:G:A p.(Arg468His) NC_000011.10:120446955:G:A Identity +NM_001363879.1:c.554C>T NP_001350808.1:p.Ser185Leu NC_000003.12:69048150:G:A p.(Ser185Leu) NC_000003.12:69048150:G:A p.(Ser185Leu) NC_000003.12:69048150:G:A Identity +NM_001199144.2:c.8287G>C NP_001186073.1:p.Gly2763Arg NC_000002.12:167250344:G:C p.(Gly2763Arg) NC_000002.12:167250344:G:C p.(Gly2763Arg) NC_000002.12:167250344:G:C Identity +NM_001010915.5:c.197C>T NP_001010915.2:p.Ser66Phe NC_000009.12:21026668:G:A p.(Ser66Phe) NC_000009.12:21026668:G:A p.(Ser66Phe) NC_000009.12:21026668:G:A Identity +NM_001395206.1:c.284T>C NP_001382135.1:p.Val95Ala NC_000008.11:39979154:T:C p.(Val95Ala) NC_000008.11:39979154:T:C p.(Val95Ala) NC_000008.11:39979154:T:C Identity +NM_005980.3:c.88A>G NP_005971.1:p.Lys30Glu NC_000004.12:6694019:A:G p.(Lys30Glu) NC_000004.12:6694019:A:G p.(Lys30Glu) NC_000004.12:6694019:A:G Identity +NM_173569.4:c.3649G>A NP_775840.3:p.Val1217Met NC_000007.14:139284553:G:A p.(Val1217Met) NC_000007.14:139284553:G:A p.(Val1217Met) NC_000007.14:139284553:G:A Identity +NM_001257291.2:c.947A>C NP_001244220.1:p.Asp316Ala NC_000023.11:46662109:T:G p.(Asp316Ala) NC_000023.11:46662109:T:G p.(Asp316Ala) NC_000023.11:46662109:T:G Identity +NM_001105539.3:c.961G>A NP_001099009.1:p.Ala321Thr NC_000008.11:80487770:G:A p.(Ala321Thr) NC_000008.11:80487770:G:A p.(Ala321Thr) NC_000008.11:80487770:G:A Identity +NM_001410818.1:c.854G>A NP_001397747.1:p.Arg285Gln NC_000022.11:37922255:G:A p.(Arg285Gln) NC_000022.11:37922255:G:A p.(Arg285Gln) NC_000022.11:37922255:G:A Identity +NM_001400774.1:c.532G>A NP_001387703.1:p.Asp178Asn NC_000006.12:83921150:G:A p.(Asp178Asn) NC_000006.12:83921150:G:A p.(Asp178Asn) NC_000006.12:83921150:G:A Identity +NM_001321041.2:c.1255C>T NP_001307970.1:p.Pro419Ser NC_000015.10:89476810:G:A p.(Pro419Ser) NC_000015.10:89476810:G:A p.(Pro419Ser) NC_000015.10:89476810:G:A Identity +NM_015409.5:c.1532C>T NP_056224.3:p.Pro511Leu NC_000012.12:131981584:C:T p.(Pro511Leu) NC_000012.12:131981584:C:T p.(Pro511Leu) NC_000012.12:131981584:C:T Identity +NM_021010.3:c.25G>A NP_066290.1:p.Ala9Thr NC_000008.11:7056672:C:T p.(Ala9Thr) NC_000008.11:7056672:C:T p.(Ala9Thr) NC_000008.11:7056672:C:T Identity +NM_001313998.2:c.278G>A NP_001300927.1:p.Ser93Asn NC_000017.11:42818859:C:T p.(Ser93Asn) NC_000017.11:42818859:C:T p.(Ser93Asn) NC_000017.11:42818859:C:T Identity +NM_001365693.1:c.4021A>T NP_001352622.1:p.Ile1341Phe NC_000007.14:142059927:A:T p.(Ile1341Phe) NC_000007.14:142059927:A:T p.(Ile1341Phe) NC_000007.14:142059927:A:T Identity +NM_001001412.4:c.932C>T NP_001001412.3:p.Pro311Leu NC_000010.11:103455370:G:A p.(Pro311Leu) NC_000010.11:103455370:G:A p.(Pro311Leu) NC_000010.11:103455370:G:A Identity +NM_001143688.3:c.2426G>A NP_001137160.1:p.Arg809His NC_000015.10:66329289:G:A p.(Arg809His) NC_000015.10:66329289:G:A p.(Arg809His) NC_000015.10:66329289:G:A Identity +NM_005245.4:c.8323C>G NP_005236.2:p.Gln2775Glu NC_000004.12:186618262:G:C p.(Gln2775Glu) NC_000004.12:186618262:G:C p.(Gln2775Glu) NC_000004.12:186618262:G:C Identity +NM_001287527.2:c.991G>A NP_001274456.1:p.Val331Ile NC_000002.12:29145336:G:A p.(Val331Ile) NC_000002.12:29145336:G:A p.(Val331Ile) NC_000002.12:29145336:G:A Identity +NM_001289905.2:c.1780G>A NP_001276834.1:p.Gly594Ser NC_000022.11:17109100:G:A p.(Gly594Ser) NC_000022.11:17109100:G:A p.(Gly594Ser) NC_000022.11:17109100:G:A Identity +NM_001197.5:c.74C>T NP_001188.1:p.Pro25Leu NC_000022.11:43124095:C:T p.(Pro25Leu) NC_000022.11:43124095:C:T p.(Pro25Leu) NC_000022.11:43124095:C:T Identity +NM_001413201.1:c.13G>A NP_001400130.1:p.Ala5Thr NC_000008.11:27987602:C:T p.(Ala5Thr) NC_000008.11:27987602:C:T p.(Ala5Thr) NC_000008.11:27987602:C:T Identity +NM_178229.5:c.4514G>A NP_839943.3:p.Gly1505Asp NC_000001.11:156528972:C:T p.(Gly1505Asp) NC_000001.11:156528972:C:T p.(Gly1505Asp) NC_000001.11:156528972:C:T Identity +NM_017752.3:c.918C>A NP_060222.2:p.Phe306Leu NC_000023.11:106826119:C:A p.(Phe306Leu) NC_000023.11:106826119:C:A p.(Phe306Leu) NC_000023.11:106826119:C:A Identity +NM_012452.3:c.201G>T NP_036584.1:p.Arg67Ser NC_000017.11:16948981:C:A p.(Arg67Ser) NC_000017.11:16948981:C:A p.(Arg67Ser) NC_000017.11:16948981:C:A Identity +NM_001288729.2:c.1619G>A NP_001275658.1:p.Cys540Tyr NC_000009.12:87650110:G:A p.(Cys540Tyr) NC_000009.12:87650110:G:A p.(Cys540Tyr) NC_000009.12:87650110:G:A Identity +NM_001190946.3:c.2081G>A NP_001177875.1:p.Arg694Gln NC_000005.10:177524399:C:T p.(Arg694Gln) NC_000005.10:177524399:C:T p.(Arg694Gln) NC_000005.10:177524399:C:T Identity +NM_001375655.1:c.503T>A NP_001362584.1:p.Leu168His NC_000001.11:217742081:T:A p.(Leu168His) NC_000001.11:217742081:T:A p.(Leu168His) NC_000001.11:217742081:T:A Identity +NM_001379277.1:c.3794C>G NP_001366206.1:p.Thr1265Arg NC_000007.14:92086351:C:G p.(Thr1265Arg) NC_000007.14:92086351:C:G p.(Thr1265Arg) NC_000007.14:92086351:C:G Identity +NM_022168.4:c.1448A>G NP_071451.2:p.Gln483Arg NC_000002.12:162281403:T:C p.(Gln483Arg) NC_000002.12:162281403:T:C p.(Gln483Arg) NC_000002.12:162281403:T:C Identity +NM_001369454.1:c.2216T>A NP_001356383.1:p.Val739Asp NC_000003.12:44447418:A:T p.(Val739Asp) NC_000003.12:44447418:A:T p.(Val739Asp) NC_000003.12:44447418:A:T Identity +NM_001100117.3:c.3229C>T NP_001093587.1:p.His1077Tyr NC_000008.11:104014509:C:T p.(His1077Tyr) NC_000008.11:104014509:C:T p.(His1077Tyr) NC_000008.11:104014509:C:T Identity +NM_138295.5:c.3511G>A NP_612152.1:p.Val1171Met NC_000007.14:47880736:C:T p.(Val1171Met) NC_000007.14:47880736:C:T p.(Val1171Met) NC_000007.14:47880736:C:T Identity +NM_032142.4:c.4258G>A NP_115518.3:p.Val1420Met NC_000018.10:13059081:G:A p.(Val1420Met) NC_000018.10:13059081:G:A p.(Val1420Met) NC_000018.10:13059081:G:A Identity +NM_031935.3:c.13832G>A NP_114141.2:p.Arg4611Lys NC_000001.11:186137879:G:A p.(Arg4611Lys) NC_000001.11:186137879:G:A p.(Arg4611Lys) NC_000001.11:186137879:G:A Identity +NM_014708.6:c.4864T>A NP_055523.1:p.Leu1622Ile NC_000012.12:122602866:T:A p.(Leu1622Ile) NC_000012.12:122602866:T:A p.(Leu1622Ile) NC_000012.12:122602866:T:A Identity +NM_145807.4:c.404C>A NP_665806.1:p.Ala135Asp NC_000019.10:48670582:G:T p.(Ala135Asp) NC_000019.10:48670582:G:T p.(Ala135Asp) NC_000019.10:48670582:G:T Identity +NM_001184854.2:c.565G>C NP_001171783.1:p.Val189Leu NC_000016.10:87726787:C:G p.(Val189Leu) NC_000016.10:87726787:C:G p.(Val189Leu) NC_000016.10:87726787:C:G Identity +NM_001301025.3:c.1604A>G NP_001287954.2:p.Asp535Gly NC_000015.10:29737345:T:C p.(Asp535Gly) NC_000015.10:29737345:T:C p.(Asp535Gly) NC_000015.10:29737345:T:C Identity +NM_145807.4:c.299G>A NP_665806.1:p.Gly100Asp NC_000019.10:48670687:C:T p.(Gly100Asp) NC_000019.10:48670687:C:T p.(Gly100Asp) NC_000019.10:48670687:C:T Identity +NM_001005291.3:c.327G>T NP_001005291.1:p.Leu109Phe NC_000017.11:17820375:C:A p.(Leu109Phe) NC_000017.11:17820375:C:A p.(Leu109Phe) NC_000017.11:17820375:C:A Identity +NM_001300905.2:c.95A>G NP_001287834.1:p.Tyr32Cys NC_000012.12:56617435:T:C p.(Tyr32Cys) NC_000012.12:56617435:T:C p.(Tyr32Cys) NC_000012.12:56617435:T:C Identity +NM_033050.6:c.367A>C NP_149039.2:p.Ile123Leu NC_000003.12:151880909:A:C p.(Ile123Leu) NC_000003.12:151880909:A:C p.(Ile123Leu) NC_000003.12:151880909:A:C Identity +NM_004977.3:c.145G>A NP_004968.2:p.Ala49Thr NC_000019.10:50328937:C:T p.(Ala49Thr) NC_000019.10:50328937:C:T p.(Ala49Thr) NC_000019.10:50328937:C:T Identity +NM_007124.3:c.5462A>G NP_009055.2:p.His1821Arg NC_000006.12:144516868:A:G p.(His1821Arg) NC_000006.12:144516868:A:G p.(His1821Arg) NC_000006.12:144516868:A:G Identity +NM_001378125.1:c.9457C>T NP_001365054.1:p.Pro3153Ser NC_000002.12:32503196:C:T p.(Pro3153Ser) NC_000002.12:32503196:C:T p.(Pro3153Ser) NC_000002.12:32503196:C:T Identity +NM_031474.3:c.739C>G NP_113662.1:p.Leu247Val NC_000012.12:2827638:G:C p.(Leu247Val) NC_000012.12:2827638:G:C p.(Leu247Val) NC_000012.12:2827638:G:C Identity +NM_001172811.2:c.25A>C NP_001166282.1:p.Lys9Gln NC_000008.11:117147053:A:C p.(Lys9Gln) NC_000008.11:117147053:A:C p.(Lys9Gln) NC_000008.11:117147053:A:C Identity +NM_152680.3:c.13C>G NP_689893.1:p.Arg5Gly NC_000004.12:152679920:G:C p.(Arg5Gly) NC_000004.12:152679920:G:C p.(Arg5Gly) NC_000004.12:152679920:G:C Identity +NM_020436.5:c.1432C>G NP_065169.1:p.Leu478Val NC_000020.11:51791050:G:C p.(Leu478Val) NC_000020.11:51791050:G:C p.(Leu478Val) NC_000020.11:51791050:G:C Identity +NM_001297560.2:c.394T>G NP_001284489.1:p.Tyr132Asp NC_000019.10:21294379:A:C p.(Tyr132Asp) NC_000019.10:21294379:A:C p.(Tyr132Asp) NC_000019.10:21294379:A:C Identity +NM_178857.6:c.5640A>C NP_849188.4:p.Glu1880Asp NC_000008.11:10608457:T:G p.(Glu1880Asp) NC_000008.11:10608457:T:G p.(Glu1880Asp) NC_000008.11:10608457:T:G Identity +NM_001042415.3:c.821C>G NP_001035880.1:p.Thr274Ser NC_000008.11:245667:C:G p.(Thr274Ser) NC_000008.11:245667:C:G p.(Thr274Ser) NC_000008.11:245667:C:G Identity +NM_000333.4:c.1975C>T NP_000324.1:p.Leu659Phe NC_000003.12:63995796:C:T p.(Leu659Phe) NC_000003.12:63995796:C:T p.(Leu659Phe) NC_000003.12:63995796:C:T Identity +NM_001178074.2:c.2132C>T NP_001171545.1:p.Pro711Leu NC_000012.12:66392483:G:A p.(Pro711Leu) NC_000012.12:66392483:G:A p.(Pro711Leu) NC_000012.12:66392483:G:A Identity +NM_001374769.1:c.2177C>T NP_001361698.1:p.Thr726Ile NC_000006.12:100390484:G:A p.(Thr726Ile) NC_000006.12:100390484:G:A p.(Thr726Ile) NC_000006.12:100390484:G:A Identity +NM_001004695.2:c.491T>C NP_001004695.1:p.Phe164Ser NC_000001.11:248273323:A:G p.(Phe164Ser) NC_000001.11:248273323:A:G p.(Phe164Ser) NC_000001.11:248273323:A:G Identity +NM_001195483.2:c.574G>C NP_001182412.2:p.Val192Leu NC_000003.12:125177790:C:G p.(Val192Leu) NC_000003.12:125177790:C:G p.(Val192Leu) NC_000003.12:125177790:C:G Identity +NM_001199847.2:c.1687C>T NP_001186776.1:p.Arg563Trp NC_000007.14:99038388:G:A p.(Arg563Trp) NC_000007.14:99038388:G:A p.(Arg563Trp) NC_000007.14:99038388:G:A Identity +NM_012477.4:c.542G>C NP_036609.1:p.Ser181Thr NC_000002.12:74460412:G:C p.(Ser181Thr) NC_000002.12:74460412:G:C p.(Ser181Thr) NC_000002.12:74460412:G:C Identity +NM_181701.4:c.1781T>C NP_859052.3:p.Leu594Pro NC_000009.12:136209043:A:G p.(Leu594Pro) NC_000009.12:136209043:A:G p.(Leu594Pro) NC_000009.12:136209043:A:G Identity +NM_001256105.1:c.778G>A NP_001243034.1:p.Ala260Thr NC_000003.12:55470411:C:T p.(Ala260Thr) NC_000003.12:55470411:C:T p.(Ala260Thr) NC_000003.12:55470411:C:T Identity +NM_016562.4:c.2726T>C NP_057646.1:p.Leu909Ser NC_000023.11:12888233:T:C p.(Leu909Ser) NC_000023.11:12888233:T:C p.(Leu909Ser) NC_000023.11:12888233:T:C Identity +NM_001102603.2:c.1136C>T NP_001096073.1:p.Thr379Ile NC_000019.10:53069397:G:A p.(Thr379Ile) NC_000019.10:53069397:G:A p.(Thr379Ile) NC_000019.10:53069397:G:A Identity +NM_001031711.3:c.394G>A NP_001026881.1:p.Val132Met NC_000005.10:172924022:G:A p.(Val132Met) NC_000005.10:172924022:G:A p.(Val132Met) NC_000005.10:172924022:G:A Identity +NM_001135095.2:c.1084G>A NP_001128567.1:p.Val362Ile NC_000003.12:172307384:G:A p.(Val362Ile) NC_000003.12:172307384:G:A p.(Val362Ile) NC_000003.12:172307384:G:A Identity +NM_020526.5:c.2737C>T NP_065387.1:p.Pro913Ser NC_000001.11:22601306:C:T p.(Pro913Ser) NC_000001.11:22601306:C:T p.(Pro913Ser) NC_000001.11:22601306:C:T Identity +NM_001353366.2:c.164C>T NP_001340295.1:p.Ala55Val NC_000007.14:156949900:C:T p.(Ala55Val) NC_000007.14:156949900:C:T p.(Ala55Val) NC_000007.14:156949900:C:T Identity +NM_001410864.1:c.935A>G NP_001397793.1:p.Tyr312Cys NC_000004.12:183249974:A:G p.(Tyr312Cys) NC_000004.12:183249974:A:G p.(Tyr312Cys) NC_000004.12:183249974:A:G Identity +NM_021228.3:c.2370G>T NP_067051.2:p.Arg790Ser NC_000019.10:49652758:G:T p.(Arg790Ser) NC_000019.10:49652758:G:T p.(Arg790Ser) NC_000019.10:49652758:G:T Identity +NM_004693.3:c.422C>A NP_004684.2:p.Thr141Asn NC_000012.12:52433882:G:T p.(Thr141Asn) NC_000012.12:52433882:G:T p.(Thr141Asn) NC_000012.12:52433882:G:T Identity +NM_001281956.2:c.6206A>T NP_001268885.1:p.Tyr2069Phe NC_000001.11:33611177:T:A p.(Tyr2069Phe) NC_000001.11:33611177:T:A p.(Tyr2069Phe) NC_000001.11:33611177:T:A Identity +NM_006264.3:c.6305G>T NP_006255.1:p.Gly2102Val NC_000004.12:86796889:G:T p.(Gly2102Val) NC_000004.12:86796889:G:T p.(Gly2102Val) NC_000004.12:86796889:G:T Identity +NM_001303427.2:c.563A>G NP_001290356.1:p.His188Arg NC_000001.11:46066980:T:C p.(His188Arg) NC_000001.11:46066980:T:C p.(His188Arg) NC_000001.11:46066980:T:C Identity +NM_001172775.2:c.1507G>A NP_001166246.1:p.Ala503Thr NC_000019.10:2853574:G:A p.(Ala503Thr) NC_000019.10:2853574:G:A p.(Ala503Thr) NC_000019.10:2853574:G:A Identity +NM_001142462.3:c.257C>A NP_001135934.1:p.Pro86Gln NC_000008.11:98949208:C:A p.(Pro86Gln) NC_000008.11:98949208:C:A p.(Pro86Gln) NC_000008.11:98949208:C:A Identity +NM_001291296.2:c.364G>A NP_001278225.1:p.Gly122Arg NC_000019.10:47480826:C:T p.(Gly122Arg) NC_000019.10:47480826:C:T p.(Gly122Arg) NC_000019.10:47480826:C:T Identity +NM_022070.5:c.712G>A NP_071353.4:p.Ala238Thr NC_000017.11:60070794:C:T p.(Ala238Thr) NC_000017.11:60070794:C:T p.(Ala238Thr) NC_000017.11:60070794:C:T Identity +NM_001376932.3:c.1102A>G NP_001363861.2:p.Lys368Glu NC_000020.11:33068937:A:G p.(Lys368Glu) NC_000020.11:33068937:A:G p.(Lys368Glu) NC_000020.11:33068937:A:G Identity +NM_012318.3:c.478G>A NP_036450.1:p.Glu160Lys NC_000004.12:1841462:C:T p.(Glu160Lys) NC_000004.12:1841462:C:T p.(Glu160Lys) NC_000004.12:1841462:C:T Identity +NM_001365987.2:c.1256C>T NP_001352916.1:p.Thr419Ile NC_000019.10:4695474:G:A p.(Thr419Ile) NC_000019.10:4695474:G:A p.(Thr419Ile) NC_000019.10:4695474:G:A Identity +NM_001367759.1:c.2459G>A NP_001354688.1:p.Arg820His NC_000006.12:121223257:C:T p.(Arg820His) NC_000006.12:121223257:C:T p.(Arg820His) NC_000006.12:121223257:C:T Identity +NM_001306085.2:c.2987C>T NP_001293014.1:p.Pro996Leu NC_000018.10:79359436:C:T p.(Pro996Leu) NC_000018.10:79359436:C:T p.(Pro996Leu) NC_000018.10:79359436:C:T Identity +NM_144982.5:c.3953A>C NP_659419.3:p.Gln1318Pro NC_000012.12:71627927:T:G p.(Gln1318Pro) NC_000012.12:71627927:T:G p.(Gln1318Pro) NC_000012.12:71627927:T:G Identity +NM_001363464.2:c.1506G>C NP_001350393.1:p.Gln502His NC_000011.10:11271275:C:G p.(Gln502His) NC_000011.10:11271275:C:G p.(Gln502His) NC_000011.10:11271275:C:G Identity +NM_001002860.4:c.2000C>T NP_001002860.2:p.Thr667Met NC_000014.9:93248596:G:A p.(Thr667Met) NC_000014.9:93248596:G:A p.(Thr667Met) NC_000014.9:93248596:G:A Identity +NM_013324.7:c.713G>A NP_037456.5:p.Arg238His NC_000003.12:50607721:C:T p.(Arg238His) NC_000003.12:50607721:C:T p.(Arg238His) NC_000003.12:50607721:C:T Identity +NM_016612.4:c.125G>C NP_057696.2:p.Ser42Thr NC_000008.11:23529126:G:C p.(Ser42Thr) NC_000008.11:23529126:G:C p.(Ser42Thr) NC_000008.11:23529126:G:C Identity +NM_001146197.3:c.13485A>T NP_001139669.1:p.Gln4495His NC_000013.11:102737211:T:A p.(Gln4495His) NC_000013.11:102737211:T:A p.(Gln4495His) NC_000013.11:102737211:T:A Identity +NM_002809.4:c.464C>T NP_002800.2:p.Ala155Val NC_000017.11:39986626:C:T p.(Ala155Val) NC_000017.11:39986626:C:T p.(Ala155Val) NC_000017.11:39986626:C:T Identity +NM_001244713.1:c.947G>A NP_001231642.1:p.Gly316Asp NC_000009.12:107324897:G:A p.(Gly316Asp) NC_000009.12:107324897:G:A p.(Gly316Asp) NC_000009.12:107324897:G:A Identity +NM_001281734.2:c.1373G>A NP_001268663.1:p.Arg458His NC_000014.9:72978906:C:T p.(Arg458His) NC_000014.9:72978906:C:T p.(Arg458His) NC_000014.9:72978906:C:T Identity +NM_001101648.2:c.1922T>C NP_001095118.1:p.Ile641Thr NC_000007.14:44535900:A:G p.(Ile641Thr) NC_000007.14:44535900:A:G p.(Ile641Thr) NC_000007.14:44535900:A:G Identity +NM_000917.4:c.635G>A NP_000908.2:p.Ser212Asn NC_000010.11:73053418:C:T p.(Ser212Asn) NC_000010.11:73053418:C:T p.(Ser212Asn) NC_000010.11:73053418:C:T Identity +NM_005479.4:c.832G>C NP_005470.2:p.Gly278Arg NC_000010.11:97320284:G:C p.(Gly278Arg) NC_000010.11:97320284:G:C p.(Gly278Arg) NC_000010.11:97320284:G:C Identity +NM_000495.5:c.3334C>A NP_000486.1:p.Pro1112Thr NC_000023.11:108655417:C:A p.(Pro1112Thr) NC_000023.11:108655417:C:A p.(Pro1112Thr) NC_000023.11:108655417:C:A Identity +NM_152888.3:c.3119G>A NP_690848.1:p.Gly1040Asp NC_000008.11:138676588:C:T p.(Gly1040Asp) NC_000008.11:138676588:C:T p.(Gly1040Asp) NC_000008.11:138676588:C:T Identity +NM_007106.4:c.59A>G NP_009037.1:p.Lys20Arg NC_000013.11:29777231:T:C p.(Lys20Arg) NC_000013.11:29777231:T:C p.(Lys20Arg) NC_000013.11:29777231:T:C Identity +NM_176822.4:c.2285C>G NP_789792.1:p.Thr762Ser NC_000011.10:7049831:C:G p.(Thr762Ser) NC_000011.10:7049831:C:G p.(Thr762Ser) NC_000011.10:7049831:C:G Identity +NM_001394201.1:c.1638G>T NP_001381130.1:p.Glu546Asp NC_000009.12:136383530:C:A p.(Glu546Asp) NC_000009.12:136383530:C:A p.(Glu546Asp) NC_000009.12:136383530:C:A Identity +NM_001017969.3:c.370C>G NP_001017969.2:p.Arg124Gly NC_000009.12:6007417:G:C p.(Arg124Gly) NC_000009.12:6007417:G:C p.(Arg124Gly) NC_000009.12:6007417:G:C Identity +NM_006617.2:c.2131T>C NP_006608.1:p.Phe711Leu NC_000001.11:156672056:A:G p.(Phe711Leu) NC_000001.11:156672056:A:G p.(Phe711Leu) NC_000001.11:156672056:A:G Identity +NM_012084.4:c.1088A>G NP_036216.2:p.Lys363Arg NC_000023.11:121048771:A:G p.(Lys363Arg) NC_000023.11:121048771:A:G p.(Lys363Arg) NC_000023.11:121048771:A:G Identity +NM_001039111.3:c.230C>G NP_001034200.1:p.Ala77Gly NC_000003.12:32818309:C:G p.(Ala77Gly) NC_000003.12:32818309:C:G p.(Ala77Gly) NC_000003.12:32818309:C:G Identity +NM_005814.3:c.80C>T NP_005805.1:p.Pro27Leu NC_000001.11:167073502:G:A p.(Pro27Leu) NC_000001.11:167073502:G:A p.(Pro27Leu) NC_000001.11:167073502:G:A Identity +NM_001130045.2:c.34C>T NP_001123517.1:p.Arg12Trp NC_000001.11:1179248:C:T p.(Arg12Trp) NC_000001.11:1179248:C:T p.(Arg12Trp) NC_000001.11:1179248:C:T Identity +NM_001130964.2:c.1852G>A NP_001124436.1:p.Gly618Arg NC_000003.12:38008570:C:T p.(Gly618Arg) NC_000003.12:38008570:C:T p.(Gly618Arg) NC_000003.12:38008570:C:T Identity +NM_001271933.2:c.4307C>G NP_001258862.1:p.Thr1436Ser NC_000011.10:117412106:C:G p.(Thr1436Ser) NC_000011.10:117412106:C:G p.(Thr1436Ser) NC_000011.10:117412106:C:G Identity +NM_001008897.2:c.997C>T NP_001008897.1:p.Leu333Phe NC_000006.12:159779253:G:A p.(Leu333Phe) NC_000006.12:159779253:G:A p.(Leu333Phe) NC_000006.12:159779253:G:A Identity +NM_001164615.2:c.1936G>A NP_001158087.1:p.Ala646Thr NC_000008.11:103330048:G:A p.(Ala646Thr) NC_000008.11:103330048:G:A p.(Ala646Thr) NC_000008.11:103330048:G:A Identity +NM_001031713.4:c.454A>G NP_001026883.1:p.Lys152Glu NC_000006.12:13807005:T:C p.(Lys152Glu) NC_000006.12:13807005:T:C p.(Lys152Glu) NC_000006.12:13807005:T:C Identity +NM_001080824.3:c.272C>T NP_001074293.1:p.Thr91Ile NC_000002.12:84870621:G:A p.(Thr91Ile) NC_000002.12:84870621:G:A p.(Thr91Ile) NC_000002.12:84870621:G:A Identity +NM_001008563.5:c.1109G>A NP_001008563.2:p.Arg370Gln NC_000009.12:129868422:G:A p.(Arg370Gln) NC_000009.12:129868422:G:A p.(Arg370Gln) NC_000009.12:129868422:G:A Identity +NM_173084.3:c.780T>A NP_775107.1:p.His260Gln NC_000003.12:160438403:A:T p.(His260Gln) NC_000003.12:160438403:A:T p.(His260Gln) NC_000003.12:160438403:A:T Identity +NM_001217.5:c.226A>G NP_001208.2:p.Lys76Glu NC_000019.10:48644485:T:C p.(Lys76Glu) NC_000019.10:48644485:T:C p.(Lys76Glu) NC_000019.10:48644485:T:C Identity +NM_001324255.2:c.6103G>C NP_001311184.1:p.Asp2035His NC_000005.10:72199835:G:C p.(Asp2035His) NC_000005.10:72199835:G:C p.(Asp2035His) NC_000005.10:72199835:G:C Identity +NM_003126.4:c.1718C>G NP_003117.2:p.Thr573Ser NC_000001.11:158669522:G:C p.(Thr573Ser) NC_000001.11:158669522:G:C p.(Thr573Ser) NC_000001.11:158669522:G:C Identity +NM_006355.5:c.707A>G NP_006346.1:p.Lys236Arg NC_000006.12:25972067:A:G p.(Lys236Arg) NC_000006.12:25972067:A:G p.(Lys236Arg) NC_000006.12:25972067:A:G Identity +NM_017617.5:c.7118T>C NP_060087.3:p.Leu2373Pro NC_000009.12:136496620:A:G p.(Leu2373Pro) NC_000009.12:136496620:A:G p.(Leu2373Pro) NC_000009.12:136496620:A:G Identity +NM_001145206.2:c.2092C>T NP_001138678.1:p.His698Tyr NC_000022.11:25039221:C:T p.(His698Tyr) NC_000022.11:25039221:C:T p.(His698Tyr) NC_000022.11:25039221:C:T Identity +NM_001042417.2:c.119A>G NP_001035882.1:p.Tyr40Cys NC_000010.11:68404729:T:C p.(Tyr40Cys) NC_000010.11:68404729:T:C p.(Tyr40Cys) NC_000010.11:68404729:T:C Identity +NM_001330585.2:c.449T>A NP_001317514.1:p.Val150Asp NC_000001.11:52361001:A:T p.(Val150Asp) NC_000001.11:52361001:A:T p.(Val150Asp) NC_000001.11:52361001:A:T Identity +NM_198584.3:c.115G>A NP_940986.1:p.Val39Met NC_000008.11:85250816:G:A p.(Val39Met) NC_000008.11:85250816:G:A p.(Val39Met) NC_000008.11:85250816:G:A Identity +NM_001350929.2:c.7166A>G NP_001337858.1:p.Lys2389Arg NC_000014.9:104947984:T:C p.(Lys2389Arg) NC_000014.9:104947984:T:C p.(Lys2389Arg) NC_000014.9:104947984:T:C Identity +NM_001004064.2:c.470T>A NP_001004064.1:p.Ile157Asn NC_000011.10:56137248:A:T p.(Ile157Asn) NC_000011.10:56137248:A:T p.(Ile157Asn) NC_000011.10:56137248:A:T Identity +NM_001102657.3:c.239G>A NP_001096127.1:p.Cys80Tyr NC_000019.10:52157443:C:T p.(Cys80Tyr) NC_000019.10:52157443:C:T p.(Cys80Tyr) NC_000019.10:52157443:C:T Identity +NM_005477.3:c.3446A>T NP_005468.1:p.His1149Leu NC_000015.10:73322646:T:A p.(His1149Leu) NC_000015.10:73322646:T:A p.(His1149Leu) NC_000015.10:73322646:T:A Identity +NM_001285387.3:c.258A>C NP_001272316.1:p.Glu86Asp NC_000003.12:63835386:T:G p.(Glu86Asp) NC_000003.12:63835386:T:G p.(Glu86Asp) NC_000003.12:63835386:T:G Identity +NM_001413184.1:c.1148C>A NP_001400113.1:p.Ala383Glu NC_000008.11:67277336:G:T p.(Ala383Glu) NC_000008.11:67277336:G:T p.(Ala383Glu) NC_000008.11:67277336:G:T Identity +NM_000173.7:c.1214C>G NP_000164.5:p.Thr405Ser NC_000017.11:4933817:C:G p.(Thr405Ser) NC_000017.11:4933817:C:G p.(Thr405Ser) NC_000017.11:4933817:C:G Identity +NM_007264.4:c.238C>A NP_009195.1:p.Arg80Ser NC_000012.12:56995446:C:A p.(Arg80Ser) NC_000012.12:56995446:C:A p.(Arg80Ser) NC_000012.12:56995446:C:A Identity +NM_001142364.1:c.680G>A NP_001135836.1:p.Arg227Gln NC_000013.11:36965577:C:T p.(Arg227Gln) NC_000013.11:36965577:C:T p.(Arg227Gln) NC_000013.11:36965577:C:T Identity +NM_001039374.5:c.1261A>G NP_001034463.4:p.Asn421Asp NC_000009.12:136806654:A:G p.(Asn421Asp) NC_000009.12:136806654:A:G p.(Asn421Asp) NC_000009.12:136806654:A:G Identity +NM_001324255.2:c.4748C>T NP_001311184.1:p.Pro1583Leu NC_000005.10:72198480:C:T p.(Pro1583Leu) NC_000005.10:72198480:C:T p.(Pro1583Leu) NC_000005.10:72198480:C:T Identity +NM_012352.3:c.821T>C NP_036484.1:p.Val274Ala NC_000017.11:3198338:T:C p.(Val274Ala) NC_000017.11:3198338:T:C p.(Val274Ala) NC_000017.11:3198338:T:C Identity +NM_001136536.5:c.626A>G NP_001130008.2:p.His209Arg NC_000004.12:36294891:A:G p.(His209Arg) NC_000004.12:36294891:A:G p.(His209Arg) NC_000004.12:36294891:A:G Identity +NM_003365.3:c.152G>T NP_003356.2:p.Ser51Ile NC_000003.12:48609219:C:A p.(Ser51Ile) NC_000003.12:48609219:C:A p.(Ser51Ile) NC_000003.12:48609219:C:A Identity +NM_001114.5:c.996T>G NP_001105.1:p.Cys332Trp NC_000016.10:50298950:T:G p.(Cys332Trp) NC_000016.10:50298950:T:G p.(Cys332Trp) NC_000016.10:50298950:T:G Identity +NM_015722.4:c.20G>T NP_056537.1:p.Ser7Ile NC_000010.11:133328969:C:A p.(Ser7Ile) NC_000010.11:133328969:C:A p.(Ser7Ile) NC_000010.11:133328969:C:A Identity +NM_006364.4:c.1054T>G NP_006355.2:p.Leu352Val NC_000014.9:39074463:A:C p.(Leu352Val) NC_000014.9:39074463:A:C p.(Leu352Val) NC_000014.9:39074463:A:C Identity +NM_001145088.2:c.1373C>T NP_001138560.1:p.Ala458Val NC_000008.11:123109556:C:T p.(Ala458Val) NC_000008.11:123109556:C:T p.(Ala458Val) NC_000008.11:123109556:C:T Identity +NM_001145961.2:c.2036G>A NP_001139433.1:p.Arg679Gln NC_000016.10:67947366:C:T p.(Arg679Gln) NC_000016.10:67947366:C:T p.(Arg679Gln) NC_000016.10:67947366:C:T Identity +NM_001363774.2:c.733A>C NP_001350703.1:p.Thr245Pro NC_000019.10:12350644:T:G p.(Thr245Pro) NC_000019.10:12350644:T:G p.(Thr245Pro) NC_000019.10:12350644:T:G Identity +NM_001199017.3:c.991C>T NP_001185946.1:p.Arg331Trp NC_000015.10:70980154:C:T p.(Arg331Trp) NC_000015.10:70980154:C:T p.(Arg331Trp) NC_000015.10:70980154:C:T Identity +NM_014825.3:c.905T>G NP_055640.2:p.Met302Arg NC_000021.9:32372602:A:C p.(Met302Arg) NC_000021.9:32372602:A:C p.(Met302Arg) NC_000021.9:32372602:A:C Identity +NM_001037335.2:c.4127C>G NP_001032412.2:p.Ala1376Gly NC_000020.11:63564694:G:C p.(Ala1376Gly) NC_000020.11:63564694:G:C p.(Ala1376Gly) NC_000020.11:63564694:G:C Identity +NM_001323977.1:c.719T>C NP_001310906.1:p.Met240Thr NC_000010.11:59654045:A:G p.(Met240Thr) NC_000010.11:59654045:A:G p.(Met240Thr) NC_000010.11:59654045:A:G Identity +NM_001411031.1:c.1427G>C NP_001397960.1:p.Gly476Ala NC_000009.12:135822399:C:G p.(Gly476Ala) NC_000009.12:135822399:C:G p.(Gly476Ala) NC_000009.12:135822399:C:G Identity +NM_198321.4:c.604C>T NP_938080.1:p.Leu202Phe NC_000005.10:154376311:C:T p.(Leu202Phe) NC_000005.10:154376311:C:T p.(Leu202Phe) NC_000005.10:154376311:C:T Identity +NM_144564.5:c.811G>A NP_653165.2:p.Gly271Ser NC_000019.10:2732884:C:T p.(Gly271Ser) NC_000019.10:2732884:C:T p.(Gly271Ser) NC_000019.10:2732884:C:T Identity +NM_001165038.2:c.970A>G NP_001158510.1:p.Ile324Val NC_000008.11:21693387:T:C p.(Ile324Val) NC_000008.11:21693387:T:C p.(Ile324Val) NC_000008.11:21693387:T:C Identity +NM_005251.3:c.319C>G NP_005242.1:p.Pro107Ala NC_000016.10:86567653:C:G p.(Pro107Ala) NC_000016.10:86567653:C:G p.(Pro107Ala) NC_000016.10:86567653:C:G Identity +NM_001326381.2:c.94G>C NP_001313310.1:p.Gly32Arg NC_000006.12:138404588:G:C p.(Gly32Arg) NC_000006.12:138404588:G:C p.(Gly32Arg) NC_000006.12:138404588:G:C Identity +NM_001172828.2:c.1027C>T NP_001166299.1:p.Arg343Trp NC_000001.11:28743446:C:T p.(Arg343Trp) NC_000001.11:28743446:C:T p.(Arg343Trp) NC_000001.11:28743446:C:T Identity +NM_001146344.3:c.1379G>T NP_001139816.2:p.Cys460Phe NC_000001.11:12824999:C:A p.(Cys460Phe) NC_000001.11:12824999:C:A p.(Cys460Phe) NC_000001.11:12824999:C:A Identity +NM_001142761.1:c.414C>G NP_001136233.1:p.Ile138Met NC_000015.10:40386470:C:G p.(Ile138Met) NC_000015.10:40386470:C:G p.(Ile138Met) NC_000015.10:40386470:C:G Identity +NM_001289166.2:c.619T>C NP_001276095.1:p.Phe207Leu NC_000019.10:44235048:T:C p.(Phe207Leu) NC_000019.10:44235048:T:C p.(Phe207Leu) NC_000019.10:44235048:T:C Identity +NM_001320747.2:c.5185A>G NP_001307676.1:p.Ile1729Val NC_000017.11:76008085:T:C p.(Ile1729Val) NC_000017.11:76008085:T:C p.(Ile1729Val) NC_000017.11:76008085:T:C Identity +NM_001300742.3:c.445C>T NP_001287671.1:p.Pro149Ser NC_000012.12:12465686:C:T p.(Pro149Ser) NC_000012.12:12465686:C:T p.(Pro149Ser) NC_000012.12:12465686:C:T Identity +NM_001040105.2:c.7760C>T NP_001035194.1:p.Ala2587Val NC_000007.14:101039175:C:T p.(Ala2587Val) NC_000007.14:101039175:C:T p.(Ala2587Val) NC_000007.14:101039175:C:T Identity +NM_001286715.1:c.3531G>C NP_001273644.1:p.Glu1177Asp NC_000009.12:85575442:C:G p.(Glu1177Asp) NC_000009.12:85575442:C:G p.(Glu1177Asp) NC_000009.12:85575442:C:G Identity +NM_001130065.2:c.2108G>A NP_001123537.1:p.Arg703His NC_000019.10:17172930:G:A p.(Arg703His) NC_000019.10:17172930:G:A p.(Arg703His) NC_000019.10:17172930:G:A Identity +NM_001350862.2:c.2326G>A NP_001337791.1:p.Asp776Asn NC_000007.14:17801592:C:T p.(Asp776Asn) NC_000007.14:17801592:C:T p.(Asp776Asn) NC_000007.14:17801592:C:T Identity +NM_017742.6:c.1706G>A NP_060212.4:p.Ser569Asn NC_000018.10:62564589:G:A p.(Ser569Asn) NC_000018.10:62564589:G:A p.(Ser569Asn) NC_000018.10:62564589:G:A Identity +NM_001413013.1:c.1859G>A NP_001399942.1:p.Arg620Gln NC_000012.12:110340860:G:A p.(Arg620Gln) NC_000012.12:110340860:G:A p.(Arg620Gln) NC_000012.12:110340860:G:A Identity +NM_001265.6:c.122G>A NP_001256.4:p.Gly41Asp NC_000013.11:27968884:C:T p.(Gly41Asp) NC_000013.11:27968884:C:T p.(Gly41Asp) NC_000013.11:27968884:C:T Identity +NM_001368116.1:c.182G>A NP_001355045.1:p.Arg61Gln NC_000006.12:154450146:C:T p.(Arg61Gln) NC_000006.12:154450146:C:T p.(Arg61Gln) NC_000006.12:154450146:C:T Identity +NM_001105528.4:c.1417A>G NP_001098998.1:p.Lys473Glu NC_000018.10:33245420:T:C p.(Lys473Glu) NC_000018.10:33245420:T:C p.(Lys473Glu) NC_000018.10:33245420:T:C Identity +NM_001002251.3:c.613C>G NP_001002251.3:p.Arg205Gly NC_000012.12:122982517:C:G p.(Arg205Gly) NC_000012.12:122982517:C:G p.(Arg205Gly) NC_000012.12:122982517:C:G Identity +NM_001257096.2:c.235G>C NP_001244025.1:p.Gly79Arg NC_000020.11:21705946:G:C p.(Gly79Arg) NC_000020.11:21705946:G:C p.(Gly79Arg) NC_000020.11:21705946:G:C Identity +NM_001001485.3:c.1471A>G NP_001001485.1:p.Thr491Ala NC_000003.12:130975388:A:G p.(Thr491Ala) NC_000003.12:130975388:A:G p.(Thr491Ala) NC_000003.12:130975388:A:G Identity +NM_003074.4:c.2533T>C NP_003065.3:p.Cys845Arg NC_000003.12:47635302:A:G p.(Cys845Arg) NC_000003.12:47635302:A:G p.(Cys845Arg) NC_000003.12:47635302:A:G Identity +NM_198514.4:c.433A>G NP_940916.2:p.Met145Val NC_000010.11:113876621:A:G p.(Met145Val) NC_000010.11:113876621:A:G p.(Met145Val) NC_000010.11:113876621:A:G Identity +NM_173812.5:c.1797A>G NP_776173.3:p.Ile599Met NC_000012.12:63580764:T:C p.(Ile599Met) NC_000012.12:63580764:T:C p.(Ile599Met) NC_000012.12:63580764:T:C Identity +NM_001166271.3:c.44A>G NP_001159743.1:p.Asn15Ser NC_000013.11:24222972:A:G p.(Asn15Ser) NC_000013.11:24222972:A:G p.(Asn15Ser) NC_000013.11:24222972:A:G Identity +NM_001008701.3:c.1657A>G NP_001008701.1:p.Ile553Val NC_000019.10:14160269:T:C p.(Ile553Val) NC_000019.10:14160269:T:C p.(Ile553Val) NC_000019.10:14160269:T:C Identity +NM_000459.5:c.1825G>A NP_000450.3:p.Glu609Lys NC_000009.12:27197514:G:A p.(Glu609Lys) NC_000009.12:27197514:G:A p.(Glu609Lys) NC_000009.12:27197514:G:A Identity +NM_001172732.2:c.1372G>A NP_001166203.2:p.Val458Met NC_000023.11:17800488:C:T p.(Val458Met) NC_000023.11:17800488:C:T p.(Val458Met) NC_000023.11:17800488:C:T Identity +NM_001177660.3:c.421C>T NP_001171131.1:p.Arg141Trp NC_000010.11:113578075:C:T p.(Arg141Trp) NC_000010.11:113578075:C:T p.(Arg141Trp) NC_000010.11:113578075:C:T Identity +NM_001190809.2:c.1388A>G NP_001177738.1:p.Lys463Arg NC_000020.11:39018881:A:G p.(Lys463Arg) NC_000020.11:39018881:A:G p.(Lys463Arg) NC_000020.11:39018881:A:G Identity +NM_001134453.3:c.2444G>A NP_001127925.1:p.Gly815Asp NC_000018.10:31412858:G:A p.(Gly815Asp) NC_000018.10:31412858:G:A p.(Gly815Asp) NC_000018.10:31412858:G:A Identity +NM_001318810.2:c.265A>C NP_001305739.1:p.Met89Leu NC_000003.12:165190565:T:G p.(Met89Leu) NC_000003.12:165190565:T:G p.(Met89Leu) NC_000003.12:165190565:T:G Identity +NM_198578.4:c.4535A>C NP_940980.4:p.Lys1512Thr NC_000012.12:40310647:A:C p.(Lys1512Thr) NC_000012.12:40310647:A:C p.(Lys1512Thr) NC_000012.12:40310647:A:C Identity +NM_001300767.2:c.1055C>G NP_001287696.1:p.Thr352Arg NC_000004.12:184694537:C:G p.(Thr352Arg) NC_000004.12:184694537:C:G p.(Thr352Arg) NC_000004.12:184694537:C:G Identity +NM_198485.4:c.805G>T NP_940887.1:p.Ala269Ser NC_000003.12:189320796:G:T p.(Ala269Ser) NC_000003.12:189320796:G:T p.(Ala269Ser) NC_000003.12:189320796:G:T Identity +NM_005923.4:c.1118A>G NP_005914.1:p.Asp373Gly NC_000006.12:136694274:T:C p.(Asp373Gly) NC_000006.12:136694274:T:C p.(Asp373Gly) NC_000006.12:136694274:T:C Identity +NM_001014279.3:c.344G>C NP_001014301.1:p.Arg115Thr NC_000005.10:43039702:C:G p.(Arg115Thr) NC_000005.10:43039702:C:G p.(Arg115Thr) NC_000005.10:43039702:C:G Identity +NM_001145962.1:c.80G>T NP_001139434.1:p.Cys27Phe NC_000016.10:67968574:C:A p.(Cys27Phe) NC_000016.10:67968574:C:A p.(Cys27Phe) NC_000016.10:67968574:C:A Identity +NM_001271837.2:c.953C>T NP_001258766.1:p.Ala318Val NC_000015.10:76949166:C:T p.(Ala318Val) NC_000015.10:76949166:C:T p.(Ala318Val) NC_000015.10:76949166:C:T Identity +NM_001154.4:c.382G>C NP_001145.1:p.Val128Leu NC_000004.12:121681682:C:G p.(Val128Leu) NC_000004.12:121681682:C:G p.(Val128Leu) NC_000004.12:121681682:C:G Identity +NM_001307923.2:c.362A>G NP_001294852.1:p.Lys121Arg NC_000018.10:63592456:A:G p.(Lys121Arg) NC_000018.10:63592456:A:G p.(Lys121Arg) NC_000018.10:63592456:A:G Identity +NM_001320917.2:c.1370C>T NP_001307846.1:p.Pro457Leu NC_000015.10:34064086:C:T p.(Pro457Leu) NC_000015.10:34064086:C:T p.(Pro457Leu) NC_000015.10:34064086:C:T Identity +NM_000608.4:c.538A>C NP_000599.1:p.Lys180Gln NC_000009.12:114331926:A:C p.(Lys180Gln) NC_000009.12:114331926:A:C p.(Lys180Gln) NC_000009.12:114331926:A:C Identity +NM_001010927.3:c.1758T>A NP_001010927.2:p.Ser586Arg NC_000006.12:155256997:T:A p.(Ser586Arg) NC_000006.12:155256997:T:A p.(Ser586Arg) NC_000006.12:155256997:T:A Identity +NM_000094.4:c.2627T>G NP_000085.1:p.Val876Gly NC_000003.12:48588364:A:C p.(Val876Gly) NC_000003.12:48588364:A:C p.(Val876Gly) NC_000003.12:48588364:A:C Identity +NM_017931.4:c.962G>A NP_060401.3:p.Arg321Gln NC_000022.11:46288467:G:A p.(Arg321Gln) NC_000022.11:46288467:G:A p.(Arg321Gln) NC_000022.11:46288467:G:A Identity +NM_001100389.2:c.377A>G NP_001093859.1:p.Tyr126Cys NC_000004.12:165100689:T:C p.(Tyr126Cys) NC_000004.12:165100689:T:C p.(Tyr126Cys) NC_000004.12:165100689:T:C Identity +NM_021161.5:c.1034C>T NP_066984.1:p.Ala345Val NC_000014.9:88186117:G:A p.(Ala345Val) NC_000014.9:88186117:G:A p.(Ala345Val) NC_000014.9:88186117:G:A Identity +NM_014510.3:c.12872C>T NP_055325.2:p.Pro4291Leu NC_000007.14:82915113:G:A p.(Pro4291Leu) NC_000007.14:82915113:G:A p.(Pro4291Leu) NC_000007.14:82915113:G:A Identity +NM_001201457.2:c.1340A>G NP_001188386.1:p.Gln447Arg NC_000017.11:58604991:T:C p.(Gln447Arg) NC_000017.11:58604991:T:C p.(Gln447Arg) NC_000017.11:58604991:T:C Identity +NM_001135597.2:c.2244C>A NP_001129069.1:p.Phe748Leu NC_000002.12:55334576:G:T p.(Phe748Leu) NC_000002.12:55334576:G:T p.(Phe748Leu) NC_000002.12:55334576:G:T Identity +NM_152515.5:c.256G>T NP_689728.3:p.Ala86Ser NC_000002.12:112757114:C:A p.(Ala86Ser) NC_000002.12:112757114:C:A p.(Ala86Ser) NC_000002.12:112757114:C:A Identity +NM_002726.5:c.1051T>A NP_002717.3:p.Leu351Ile NC_000006.12:105328990:A:T p.(Leu351Ile) NC_000006.12:105328990:A:T p.(Leu351Ile) NC_000006.12:105328990:A:T Identity +NM_001317916.2:c.2170G>A NP_001304845.1:p.Ala724Thr NC_000009.12:66919735:G:A p.(Ala724Thr) NC_000009.12:66919735:G:A p.(Ala724Thr) NC_000009.12:66919735:G:A Identity +NM_001394547.1:c.3553C>G NP_001381476.1:p.Gln1185Glu NC_000015.10:62737071:C:G p.(Gln1185Glu) NC_000015.10:62737071:C:G p.(Gln1185Glu) NC_000015.10:62737071:C:G Identity +NM_001320276.2:c.2340G>T NP_001307205.1:p.Met780Ile NC_000003.12:14821410:G:T p.(Met780Ile) NC_000003.12:14821410:G:T p.(Met780Ile) NC_000003.12:14821410:G:T Identity +NM_002059.5:c.7G>C NP_002050.1:p.Ala3Pro NC_000017.11:63881794:C:G p.(Ala3Pro) NC_000017.11:63881794:C:G p.(Ala3Pro) NC_000017.11:63881794:C:G Identity +NM_002564.4:c.281C>A NP_002555.4:p.Ala94Asp NC_000011.10:73234439:C:A p.(Ala94Asp) NC_000011.10:73234439:C:A p.(Ala94Asp) NC_000011.10:73234439:C:A Identity +NM_007371.4:c.1048G>A NP_031397.1:p.Asp350Asn NC_000009.12:134048120:C:T p.(Asp350Asn) NC_000009.12:134048120:C:T p.(Asp350Asn) NC_000009.12:134048120:C:T Identity +NM_181599.3:c.73T>C NP_853630.2:p.Ser25Pro NC_000021.9:30396158:T:C p.(Ser25Pro) NC_000021.9:30396158:T:C p.(Ser25Pro) NC_000021.9:30396158:T:C Identity +NM_004716.4:c.868C>G NP_004707.2:p.Pro290Ala NC_000011.10:117224747:G:C p.(Pro290Ala) NC_000011.10:117224747:G:C p.(Pro290Ala) NC_000011.10:117224747:G:C Identity +NM_033512.3:c.1237G>A NP_277047.2:p.Val413Met NC_000008.11:97276607:C:T p.(Val413Met) NC_000008.11:97276607:C:T p.(Val413Met) NC_000008.11:97276607:C:T Identity +NM_004747.4:c.1459G>A NP_004738.3:p.Asp487Asn NC_000010.11:77835900:C:T p.(Asp487Asn) NC_000010.11:77835900:C:T p.(Asp487Asn) NC_000010.11:77835900:C:T Identity +NM_001143854.2:c.602C>T NP_001137326.1:p.Pro201Leu NC_000012.12:112868586:C:T p.(Pro201Leu) NC_000012.12:112868586:C:T p.(Pro201Leu) NC_000012.12:112868586:C:T Identity +NM_175871.4:c.604C>G NP_787067.3:p.Arg202Gly NC_000019.10:11375866:C:G p.(Arg202Gly) NC_000019.10:11375866:C:G p.(Arg202Gly) NC_000019.10:11375866:C:G Identity +NM_018917.4:c.461T>C NP_061740.2:p.Ile154Thr NC_000005.10:141355567:T:C p.(Ile154Thr) NC_000005.10:141355567:T:C p.(Ile154Thr) NC_000005.10:141355567:T:C Identity +NM_178857.6:c.2155C>A NP_849188.4:p.Leu719Met NC_000008.11:10611942:G:T p.(Leu719Met) NC_000008.11:10611942:G:T p.(Leu719Met) NC_000008.11:10611942:G:T Identity +NM_001278622.1:c.1880C>T NP_001265551.1:p.Pro627Leu NC_000005.10:69414158:C:T p.(Pro627Leu) NC_000005.10:69414158:C:T p.(Pro627Leu) NC_000005.10:69414158:C:T Identity +NM_001127671.2:c.193T>C NP_001121143.1:p.Cys65Arg NC_000005.10:38528789:A:G p.(Cys65Arg) NC_000005.10:38528789:A:G p.(Cys65Arg) NC_000005.10:38528789:A:G Identity +NM_001375471.1:c.2107C>T NP_001362400.1:p.Arg703Cys NC_000003.12:62203901:C:T p.(Arg703Cys) NC_000003.12:62203901:C:T p.(Arg703Cys) NC_000003.12:62203901:C:T Identity +NM_001300946.3:c.722A>C NP_001287875.1:p.Gln241Pro NC_000019.10:19495850:A:C p.(Gln241Pro) NC_000019.10:19495850:A:C p.(Gln241Pro) NC_000019.10:19495850:A:C Identity +NM_001008396.3:c.671C>G NP_001008397.1:p.Pro224Arg NC_000014.9:54995715:G:C p.(Pro224Arg) NC_000014.9:54995715:G:C p.(Pro224Arg) NC_000014.9:54995715:G:C Identity +NM_014948.4:c.1612C>T NP_055763.1:p.Arg538Trp NC_000020.11:3110119:G:A p.(Arg538Trp) NC_000020.11:3110119:G:A p.(Arg538Trp) NC_000020.11:3110119:G:A Identity +NM_001410830.1:c.94G>C NP_001397759.1:p.Val32Leu NC_000020.11:25413807:G:C p.(Val32Leu) NC_000020.11:25413807:G:C p.(Val32Leu) NC_000020.11:25413807:G:C Identity +NM_152357.3:c.798T>G NP_689570.2:p.His266Gln NC_000019.10:11831973:T:G p.(His266Gln) NC_000019.10:11831973:T:G p.(His266Gln) NC_000019.10:11831973:T:G Identity +NM_020879.3:c.1076G>A NP_065930.2:p.Arg359Gln NC_000007.14:77262209:G:A p.(Arg359Gln) NC_000007.14:77262209:G:A p.(Arg359Gln) NC_000007.14:77262209:G:A Identity +NM_001099218.3:c.2131A>G NP_001092688.1:p.Met711Val NC_000002.12:17516284:T:C p.(Met711Val) NC_000002.12:17516284:T:C p.(Met711Val) NC_000002.12:17516284:T:C Identity +NM_000334.4:c.2482C>T NP_000325.4:p.Arg828Cys NC_000017.11:63951794:G:A p.(Arg828Cys) NC_000017.11:63951794:G:A p.(Arg828Cys) NC_000017.11:63951794:G:A Identity +NM_001080546.3:c.104C>T NP_001074015.1:p.Ala35Val NC_000011.10:125102137:G:A p.(Ala35Val) NC_000011.10:125102137:G:A p.(Ala35Val) NC_000011.10:125102137:G:A Identity +NM_001077621.2:c.572A>T NP_001071089.1:p.Lys191Ile NC_000007.14:73671191:A:T p.(Lys191Ile) NC_000007.14:73671191:A:T p.(Lys191Ile) NC_000007.14:73671191:A:T Identity +NM_152434.3:c.2503A>G NP_689647.2:p.Ile835Val NC_000011.10:107329955:T:C p.(Ile835Val) NC_000011.10:107329955:T:C p.(Ile835Val) NC_000011.10:107329955:T:C Identity +NM_001281450.1:c.1168G>A NP_001268379.1:p.Glu390Lys NC_000007.14:73313213:C:T p.(Glu390Lys) NC_000007.14:73313213:C:T p.(Glu390Lys) NC_000007.14:73313213:C:T Identity +NM_144616.4:c.991G>C NP_653217.1:p.Asp331His NC_000019.10:2252333:C:G p.(Asp331His) NC_000019.10:2252333:C:G p.(Asp331His) NC_000019.10:2252333:C:G Identity +NM_018135.4:c.422C>T NP_060605.1:p.Pro141Leu NC_000006.12:43675225:G:A p.(Pro141Leu) NC_000006.12:43675225:G:A p.(Pro141Leu) NC_000006.12:43675225:G:A Identity +NM_005646.4:c.4610G>A NP_005637.3:p.Gly1537Asp NC_000001.11:234392502:C:T p.(Gly1537Asp) NC_000001.11:234392502:C:T p.(Gly1537Asp) NC_000001.11:234392502:C:T Identity +NM_001005201.1:c.494G>T NP_001005201.1:p.Arg165Ile NC_000011.10:56122865:G:T p.(Arg165Ile) NC_000011.10:56122865:G:T p.(Arg165Ile) NC_000011.10:56122865:G:T Identity +NM_016113.5:c.1648G>A NP_057197.2:p.Ala550Thr NC_000017.11:16431843:G:A p.(Ala550Thr) NC_000017.11:16431843:G:A p.(Ala550Thr) NC_000017.11:16431843:G:A Identity +NM_001282394.3:c.2593C>G NP_001269323.1:p.Pro865Ala NC_000009.12:93259140:C:G p.(Pro865Ala) NC_000009.12:93259140:C:G p.(Pro865Ala) NC_000009.12:93259140:C:G Identity +NM_005173.4:c.1192G>A NP_005164.2:p.Gly398Arg NC_000017.11:3944798:C:T p.(Gly398Arg) NC_000017.11:3944798:C:T p.(Gly398Arg) NC_000017.11:3944798:C:T Identity +NM_002048.3:c.25G>A NP_002039.2:p.Gly9Ser NC_000009.12:86946754:C:T p.(Gly9Ser) NC_000009.12:86946754:C:T p.(Gly9Ser) NC_000009.12:86946754:C:T Identity +NM_001267782.2:c.32G>A NP_001254711.1:p.Arg11Gln NC_000011.10:46548348:C:T p.(Arg11Gln) NC_000011.10:46548348:C:T p.(Arg11Gln) NC_000011.10:46548348:C:T Identity +NM_001143688.3:c.1173G>C NP_001137160.1:p.Arg391Ser NC_000015.10:66320578:G:C p.(Arg391Ser) NC_000015.10:66320578:G:C p.(Arg391Ser) NC_000015.10:66320578:G:C Identity +NM_001371533.1:c.197C>T NP_001358462.1:p.Ser66Phe NC_000014.9:65561759:C:T p.(Ser66Phe) NC_000014.9:65561759:C:T p.(Ser66Phe) NC_000014.9:65561759:C:T Identity +NM_199054.3:c.1388A>T NP_951009.1:p.Asp463Val NC_000019.10:2039622:T:A p.(Asp463Val) NC_000019.10:2039622:T:A p.(Asp463Val) NC_000019.10:2039622:T:A Identity +NM_001256041.2:c.32A>C NP_001242970.1:p.Glu11Ala NC_000012.12:57048291:T:G p.(Glu11Ala) NC_000012.12:57048291:T:G p.(Glu11Ala) NC_000012.12:57048291:T:G Identity +NM_015144.3:c.2158T>A NP_055959.2:p.Ser720Thr NC_000016.10:87412562:A:T p.(Ser720Thr) NC_000016.10:87412562:A:T p.(Ser720Thr) NC_000016.10:87412562:A:T Identity +NM_001256468.2:c.4201A>G NP_001243397.1:p.Ile1401Val NC_000010.11:75029573:A:G p.(Ile1401Val) NC_000010.11:75029573:A:G p.(Ile1401Val) NC_000010.11:75029573:A:G Identity +NM_014675.5:c.2702G>A NP_055490.4:p.Arg901His NC_000001.11:16948517:G:A p.(Arg901His) NC_000001.11:16948517:G:A p.(Arg901His) NC_000001.11:16948517:G:A Identity +NM_001080423.4:c.1174T>G NP_001073892.3:p.Phe392Val NC_000003.12:14517195:A:C p.(Phe392Val) NC_000003.12:14517195:A:C p.(Phe392Val) NC_000003.12:14517195:A:C Identity +NM_001271003.2:c.235G>A NP_001257932.1:p.Glu79Lys NC_000007.14:93890139:C:T p.(Glu79Lys) NC_000007.14:93890139:C:T p.(Glu79Lys) NC_000007.14:93890139:C:T Identity +NM_001321006.2:c.101A>G NP_001307935.1:p.Asp34Gly NC_000010.11:17162210:T:C p.(Asp34Gly) NC_000010.11:17162210:T:C p.(Asp34Gly) NC_000010.11:17162210:T:C Identity +NM_021645.6:c.1702C>T NP_067677.4:p.Pro568Ser NC_000013.11:52030505:C:T p.(Pro568Ser) NC_000013.11:52030505:C:T p.(Pro568Ser) NC_000013.11:52030505:C:T Identity +NM_021961.6:c.1187C>T NP_068780.2:p.Thr396Ile NC_000011.10:12937127:C:T p.(Thr396Ile) NC_000011.10:12937127:C:T p.(Thr396Ile) NC_000011.10:12937127:C:T Identity +NM_001166301.2:c.512G>A NP_001159773.1:p.Arg171Gln NC_000017.11:59573935:G:A p.(Arg171Gln) NC_000017.11:59573935:G:A p.(Arg171Gln) NC_000017.11:59573935:G:A Identity +NM_152457.3:c.871G>A NP_689670.1:p.Val291Ile NC_000016.10:3436827:C:T p.(Val291Ile) NC_000016.10:3436827:C:T p.(Val291Ile) NC_000016.10:3436827:C:T Identity +NM_001394531.1:c.8198G>A NP_001381460.1:p.Arg2733Gln NC_000010.11:48959787:G:A p.(Arg2733Gln) NC_000010.11:48959787:G:A p.(Arg2733Gln) NC_000010.11:48959787:G:A Identity +NM_001174116.3:c.2284C>T NP_001167587.1:p.Leu762Phe NC_000015.10:51536195:G:A p.(Leu762Phe) NC_000015.10:51536195:G:A p.(Leu762Phe) NC_000015.10:51536195:G:A Identity +NM_053043.3:c.1049C>T NP_444271.2:p.Pro350Leu NC_000007.14:155711302:C:T p.(Pro350Leu) NC_000007.14:155711302:C:T p.(Pro350Leu) NC_000007.14:155711302:C:T Identity +NM_013939.2:c.577G>A NP_039227.1:p.Val193Ile NC_000019.10:15728619:G:A p.(Val193Ile) NC_000019.10:15728619:G:A p.(Val193Ile) NC_000019.10:15728619:G:A Identity +NM_001387037.1:c.60G>C NP_001373966.1:p.Arg20Ser NC_000010.11:112376368:G:C p.(Arg20Ser) NC_000010.11:112376368:G:C p.(Arg20Ser) NC_000010.11:112376368:G:C Identity +NM_001395257.1:c.989G>A NP_001382186.1:p.Arg330His NC_000019.10:1486931:C:T p.(Arg330His) NC_000019.10:1486931:C:T p.(Arg330His) NC_000019.10:1486931:C:T Identity +NM_199420.4:c.4643T>C NP_955452.3:p.Leu1548Ser NC_000003.12:121488287:A:G p.(Leu1548Ser) NC_000003.12:121488287:A:G p.(Leu1548Ser) NC_000003.12:121488287:A:G Identity +NM_001009609.4:c.148C>A NP_001009609.2:p.Pro50Thr NC_000023.11:143509092:G:T p.(Pro50Thr) NC_000023.11:143509092:G:T p.(Pro50Thr) NC_000023.11:143509092:G:T Identity +NM_001098506.4:c.62C>T NP_001091976.3:p.Thr21Ile NC_000019.10:41576335:C:T p.(Thr21Ile) NC_000019.10:41576335:C:T p.(Thr21Ile) NC_000019.10:41576335:C:T Identity +NM_017957.3:c.598G>A NP_060427.2:p.Glu200Lys NC_000017.11:50538113:G:A p.(Glu200Lys) NC_000017.11:50538113:G:A p.(Glu200Lys) NC_000017.11:50538113:G:A Identity +NM_001005487.2:c.772C>G NP_001005487.1:p.Arg258Gly NC_000001.11:247672269:G:C p.(Arg258Gly) NC_000001.11:247672269:G:C p.(Arg258Gly) NC_000001.11:247672269:G:C Identity +NM_001315507.2:c.3989G>T NP_001302436.2:p.Ser1330Ile NC_000008.11:17980635:G:T p.(Ser1330Ile) NC_000008.11:17980635:G:T p.(Ser1330Ile) NC_000008.11:17980635:G:T Identity +NM_001277058.2:c.1495G>A NP_001263987.1:p.Glu499Lys NC_000010.11:49517023:C:T p.(Glu499Lys) NC_000010.11:49517023:C:T p.(Glu499Lys) NC_000010.11:49517023:C:T Identity +NM_001014286.3:c.865T>C NP_001014308.2:p.Cys289Arg NC_000013.11:37031622:A:G p.(Cys289Arg) NC_000013.11:37031622:A:G p.(Cys289Arg) NC_000013.11:37031622:A:G Identity +NM_032272.5:c.25T>C NP_115648.2:p.Phe9Leu NC_000008.11:144105707:T:C p.(Phe9Leu) NC_000008.11:144105707:T:C p.(Phe9Leu) NC_000008.11:144105707:T:C Identity +NM_015204.3:c.4570C>T NP_056019.1:p.Pro1524Ser NC_000007.14:11379649:G:A p.(Pro1524Ser) NC_000007.14:11379649:G:A p.(Pro1524Ser) NC_000007.14:11379649:G:A Identity +NM_153834.4:c.2890G>A NP_722576.3:p.Glu964Lys NC_000023.11:136346595:G:A p.(Glu964Lys) NC_000023.11:136346595:G:A p.(Glu964Lys) NC_000023.11:136346595:G:A Identity +NM_020405.5:c.445C>T NP_065138.2:p.Arg149Trp NC_000017.11:39108927:G:A p.(Arg149Trp) NC_000017.11:39108927:G:A p.(Arg149Trp) NC_000017.11:39108927:G:A Identity +NM_213589.3:c.2096C>T NP_998754.1:p.Pro699Leu NC_000002.12:203441093:G:A p.(Pro699Leu) NC_000002.12:203441093:G:A p.(Pro699Leu) NC_000002.12:203441093:G:A Identity +NM_001142725.2:c.1865G>A NP_001136197.1:p.Cys622Tyr NC_000016.10:20797934:C:T p.(Cys622Tyr) NC_000016.10:20797934:C:T p.(Cys622Tyr) NC_000016.10:20797934:C:T Identity +NM_001199085.3:c.840C>A NP_001186014.1:p.Asn280Lys NC_000001.11:179618606:C:A p.(Asn280Lys) NC_000001.11:179618606:C:A p.(Asn280Lys) NC_000001.11:179618606:C:A Identity +NM_001083116.3:c.937G>A NP_001076585.1:p.Asp313Asn NC_000010.11:70598783:C:T p.(Asp313Asn) NC_000010.11:70598783:C:T p.(Asp313Asn) NC_000010.11:70598783:C:T Identity +NM_000057.4:c.1613C>A NP_000048.1:p.Ala538Asp NC_000015.10:90760985:C:A p.(Ala538Asp) NC_000015.10:90760985:C:A p.(Ala538Asp) NC_000015.10:90760985:C:A Identity +NM_033225.6:c.1354C>G NP_150094.5:p.Leu452Val NC_000008.11:3493716:G:C p.(Leu452Val) NC_000008.11:3493716:G:C p.(Leu452Val) NC_000008.11:3493716:G:C Identity +NM_001145166.2:c.834G>A NP_001138638.1:p.Met278Ile NC_000011.10:20452155:G:A p.(Met278Ile) NC_000011.10:20452155:G:A p.(Met278Ile) NC_000011.10:20452155:G:A Identity +NM_001317948.2:c.413A>G NP_001304877.1:p.Tyr138Cys NC_000005.10:176368833:A:G p.(Tyr138Cys) NC_000005.10:176368833:A:G p.(Tyr138Cys) NC_000005.10:176368833:A:G Identity +NM_001116.4:c.2288A>G NP_001107.2:p.Tyr763Cys NC_000016.10:3989015:T:C p.(Tyr763Cys) NC_000016.10:3989015:T:C p.(Tyr763Cys) NC_000016.10:3989015:T:C Identity +NM_014599.6:c.1762G>A NP_055414.2:p.Gly588Ser NC_000023.11:54815622:G:A p.(Gly588Ser) NC_000023.11:54815622:G:A p.(Gly588Ser) NC_000023.11:54815622:G:A Identity +NM_001080529.3:c.886C>T NP_001073998.2:p.Leu296Phe NC_000007.14:29884379:C:T p.(Leu296Phe) NC_000007.14:29884379:C:T p.(Leu296Phe) NC_000007.14:29884379:C:T Identity +NM_000800.5:c.40G>C NP_000791.1:p.Glu14Gln NC_000005.10:142614087:C:G p.(Glu14Gln) NC_000005.10:142614087:C:G p.(Glu14Gln) NC_000005.10:142614087:C:G Identity +NM_001330261.2:c.37C>T NP_001317190.1:p.Leu13Phe NC_000017.11:48051154:C:T p.(Leu13Phe) NC_000017.11:48051154:C:T p.(Leu13Phe) NC_000017.11:48051154:C:T Identity +NM_001384475.1:c.5717C>T NP_001371404.1:p.Thr1906Met NC_000018.10:75063437:C:T p.(Thr1906Met) NC_000018.10:75063437:C:T p.(Thr1906Met) NC_000018.10:75063437:C:T Identity +NM_033131.4:c.247G>A NP_149122.1:p.Gly83Ser NC_000001.11:228022841:G:A p.(Gly83Ser) NC_000001.11:228022841:G:A p.(Gly83Ser) NC_000001.11:228022841:G:A Identity +NM_006898.5:c.1010A>C NP_008829.3:p.His337Pro NC_000002.12:176171984:A:C p.(His337Pro) NC_000002.12:176171984:A:C p.(His337Pro) NC_000002.12:176171984:A:C Identity +NM_001013843.3:c.167T>C NP_001013865.1:p.Ile56Thr NC_000015.10:58932438:A:G p.(Ile56Thr) NC_000015.10:58932438:A:G p.(Ile56Thr) NC_000015.10:58932438:A:G Identity +NM_144653.5:c.1246G>A NP_653254.1:p.Ala416Thr NC_000009.12:136013207:C:T p.(Ala416Thr) NC_000009.12:136013207:C:T p.(Ala416Thr) NC_000009.12:136013207:C:T Identity +NM_001004311.3:c.493G>C NP_001004311.2:p.Gly165Arg NC_000002.12:70785530:C:G p.(Gly165Arg) NC_000002.12:70785530:C:G p.(Gly165Arg) NC_000002.12:70785530:C:G Identity +NM_206899.1:c.892G>A NP_996782.1:p.Val298Met NC_000012.12:55637782:G:A p.(Val298Met) NC_000012.12:55637782:G:A p.(Val298Met) NC_000012.12:55637782:G:A Identity +NM_001003931.4:c.176G>A NP_001003931.4:p.Gly59Glu NC_000003.12:51943530:G:A p.(Gly59Glu) NC_000003.12:51943530:G:A p.(Gly59Glu) NC_000003.12:51943530:G:A Identity +NM_152755.2:c.241G>C NP_689968.1:p.Val81Leu NC_000007.14:100122380:G:C p.(Val81Leu) NC_000007.14:100122380:G:C p.(Val81Leu) NC_000007.14:100122380:G:C Identity +NM_001042440.5:c.1192C>G NP_001035905.1:p.Pro398Ala NC_000005.10:96747374:C:G p.(Pro398Ala) NC_000005.10:96747374:C:G p.(Pro398Ala) NC_000005.10:96747374:C:G Identity +NM_001135771.3:c.1183G>T NP_001129243.1:p.Ala395Ser NC_000020.11:37225781:G:T p.(Ala395Ser) NC_000020.11:37225781:G:T p.(Ala395Ser) NC_000020.11:37225781:G:T Identity +NM_033257.4:c.392G>A NP_150282.2:p.Arg131His NC_000022.11:20315456:C:T p.(Arg131His) NC_000022.11:20315456:C:T p.(Arg131His) NC_000022.11:20315456:C:T Identity +NM_001916.5:c.917T>C NP_001907.3:p.Ile306Thr NC_000008.11:144097274:T:C p.(Ile306Thr) NC_000008.11:144097274:T:C p.(Ile306Thr) NC_000008.11:144097274:T:C Identity +NM_001317078.4:c.154C>T NP_001304007.2:p.Pro52Ser NC_000011.10:57712025:G:A p.(Pro52Ser) NC_000011.10:57712025:G:A p.(Pro52Ser) NC_000011.10:57712025:G:A Identity +NM_001005500.2:c.220T>C NP_001005500.1:p.Ser74Pro NC_000014.9:19780541:T:C p.(Ser74Pro) NC_000014.9:19780541:T:C p.(Ser74Pro) NC_000014.9:19780541:T:C Identity +NM_024832.5:c.236G>A NP_079108.3:p.Arg79Gln NC_000014.9:92555941:G:A p.(Arg79Gln) NC_000014.9:92555941:G:A p.(Arg79Gln) NC_000014.9:92555941:G:A Identity +NM_001411031.1:c.1245G>C NP_001397960.1:p.Gln415His NC_000009.12:135822581:C:G p.(Gln415His) NC_000009.12:135822581:C:G p.(Gln415His) NC_000009.12:135822581:C:G Identity +NM_001170629.2:c.2455G>A NP_001164100.1:p.Val819Ile NC_000014.9:21408734:C:T p.(Val819Ile) NC_000014.9:21408734:C:T p.(Val819Ile) NC_000014.9:21408734:C:T Identity +NM_001014446.3:c.229G>C NP_001014446.1:p.Ala77Pro NC_000004.12:48894041:C:G p.(Ala77Pro) NC_000004.12:48894041:C:G p.(Ala77Pro) NC_000004.12:48894041:C:G Identity +NM_001137610.3:c.635T>C NP_001131082.1:p.Ile212Thr NC_000008.11:12428739:A:G p.(Ile212Thr) NC_000008.11:12428739:A:G p.(Ile212Thr) NC_000008.11:12428739:A:G Identity +NM_001080469.2:c.1259C>A NP_001073938.1:p.Pro420Gln NC_000019.10:45712236:G:T p.(Pro420Gln) NC_000019.10:45712236:G:T p.(Pro420Gln) NC_000019.10:45712236:G:T Identity +NM_014906.5:c.1978C>G NP_055721.3:p.Pro660Ala NC_000017.11:58980740:C:G p.(Pro660Ala) NC_000017.11:58980740:C:G p.(Pro660Ala) NC_000017.11:58980740:C:G Identity +NM_001286561.2:c.480T>G NP_001273490.1:p.Cys160Trp NC_000011.10:72019597:A:C p.(Cys160Trp) NC_000011.10:72019597:A:C p.(Cys160Trp) NC_000011.10:72019597:A:C Identity +NM_001317037.2:c.1189G>C NP_001303966.1:p.Glu397Gln NC_000009.12:127724865:G:C p.(Glu397Gln) NC_000009.12:127724865:G:C p.(Glu397Gln) NC_000009.12:127724865:G:C Identity +NM_001037639.3:c.568C>T NP_001032728.1:p.Arg190Trp NC_000003.12:183844269:G:A p.(Arg190Trp) NC_000003.12:183844269:G:A p.(Arg190Trp) NC_000003.12:183844269:G:A Identity +NM_000701.8:c.145G>T NP_000692.2:p.Asp49Tyr NC_000001.11:116384803:G:T p.(Asp49Tyr) NC_000001.11:116384803:G:T p.(Asp49Tyr) NC_000001.11:116384803:G:T Identity +NM_006993.3:c.283G>A NP_008924.1:p.Ala95Thr NC_000010.11:101782518:C:T p.(Ala95Thr) NC_000010.11:101782518:C:T p.(Ala95Thr) NC_000010.11:101782518:C:T Identity +NM_001122870.3:c.721G>A NP_001116342.1:p.Gly241Ser NC_000003.12:52249790:G:A p.(Gly241Ser) NC_000003.12:52249790:G:A p.(Gly241Ser) NC_000003.12:52249790:G:A Identity +NM_003658.5:c.673A>C NP_003649.2:p.Asn225His NC_000011.10:129451234:A:C p.(Asn225His) NC_000011.10:129451234:A:C p.(Asn225His) NC_000011.10:129451234:A:C Identity +NM_001173988.2:c.1049C>T NP_001167459.1:p.Ser350Leu NC_000009.12:136837581:C:T p.(Ser350Leu) NC_000009.12:136837581:C:T p.(Ser350Leu) NC_000009.12:136837581:C:T Identity +NM_001009811.4:c.257G>T NP_001009811.2:p.Arg86Leu NC_000017.11:81208942:C:A p.(Arg86Leu) NC_000017.11:81208942:C:A p.(Arg86Leu) NC_000017.11:81208942:C:A Identity +NM_001270519.2:c.630T>G NP_001257448.1:p.Asp210Glu NC_000006.12:149684458:A:C p.(Asp210Glu) NC_000006.12:149684458:A:C p.(Asp210Glu) NC_000006.12:149684458:A:C Identity +NM_001267722.2:c.1375G>T NP_001254651.1:p.Ala459Ser NC_000004.12:56491485:G:T p.(Ala459Ser) NC_000004.12:56491485:G:T p.(Ala459Ser) NC_000004.12:56491485:G:T Identity +NM_018897.3:c.5003A>G NP_061720.2:p.Asp1668Gly NC_000002.12:195891697:T:C p.(Asp1668Gly) NC_000002.12:195891697:T:C p.(Asp1668Gly) NC_000002.12:195891697:T:C Identity +NM_001105663.3:c.506G>A NP_001099133.1:p.Arg169His NC_000016.10:77741738:G:A p.(Arg169His) NC_000016.10:77741738:G:A p.(Arg169His) NC_000016.10:77741738:G:A Identity +NM_001143979.2:c.26G>C NP_001137451.1:p.Ser9Thr NC_000016.10:15664803:G:C p.(Ser9Thr) NC_000016.10:15664803:G:C p.(Ser9Thr) NC_000016.10:15664803:G:C Identity +NM_001039583.1:c.20A>G NP_001034672.1:p.Tyr7Cys NC_000022.11:38057828:A:G p.(Tyr7Cys) NC_000022.11:38057828:A:G p.(Tyr7Cys) NC_000022.11:38057828:A:G Identity +NM_006498.3:c.163A>G NP_006489.1:p.Ile55Val NC_000022.11:37570661:T:C p.(Ile55Val) NC_000022.11:37570661:T:C p.(Ile55Val) NC_000022.11:37570661:T:C Identity +NM_001377329.1:c.971C>T NP_001364258.1:p.Thr324Ile NC_000012.12:92740883:C:T p.(Thr324Ile) NC_000012.12:92740883:C:T p.(Thr324Ile) NC_000012.12:92740883:C:T Identity +NM_001067.4:c.1345G>A NP_001058.2:p.Gly449Ser NC_000017.11:40408121:C:T p.(Gly449Ser) NC_000017.11:40408121:C:T p.(Gly449Ser) NC_000017.11:40408121:C:T Identity +NM_001308022.2:c.3479C>T NP_001294951.1:p.Thr1160Met NC_000002.12:217818501:G:A p.(Thr1160Met) NC_000002.12:217818501:G:A p.(Thr1160Met) NC_000002.12:217818501:G:A Identity +NM_001308392.2:c.1760C>G NP_001295321.1:p.Thr587Ser NC_000016.10:64950900:G:C p.(Thr587Ser) NC_000016.10:64950900:G:C p.(Thr587Ser) NC_000016.10:64950900:G:C Identity +NM_001013622.3:c.751G>T NP_001013644.1:p.Gly251Trp NC_000004.12:1655108:C:A p.(Gly251Trp) NC_000004.12:1655108:C:A p.(Gly251Trp) NC_000004.12:1655108:C:A Identity +NM_001270952.2:c.107A>G NP_001257881.1:p.Lys36Arg NC_000013.11:75566725:A:G p.(Lys36Arg) NC_000013.11:75566725:A:G p.(Lys36Arg) NC_000013.11:75566725:A:G Identity +NM_001301188.1:c.134C>T NP_001288117.1:p.Pro45Leu NC_000020.11:388143:C:T p.(Pro45Leu) NC_000020.11:388143:C:T p.(Pro45Leu) NC_000020.11:388143:C:T Identity +NM_001306173.2:c.226C>T NP_001293102.1:p.Pro76Ser NC_000005.10:35039459:G:A p.(Pro76Ser) NC_000005.10:35039459:G:A p.(Pro76Ser) NC_000005.10:35039459:G:A Identity +NM_001281734.2:c.2138A>T NP_001268663.1:p.Glu713Val NC_000014.9:72971035:T:A p.(Glu713Val) NC_000014.9:72971035:T:A p.(Glu713Val) NC_000014.9:72971035:T:A Identity +NM_001376231.1:c.1460T>G NP_001363160.1:p.Ile487Ser NC_000016.10:21201722:A:C p.(Ile487Ser) NC_000016.10:21201722:A:C p.(Ile487Ser) NC_000016.10:21201722:A:C Identity +NM_004514.4:c.1973T>A NP_004505.2:p.Val658Asp NC_000017.11:82601488:T:A p.(Val658Asp) NC_000017.11:82601488:T:A p.(Val658Asp) NC_000017.11:82601488:T:A Identity +NM_001217.5:c.856G>A NP_001208.2:p.Gly286Ser NC_000019.10:48638992:C:T p.(Gly286Ser) NC_000019.10:48638992:C:T p.(Gly286Ser) NC_000019.10:48638992:C:T Identity +NM_001271999.2:c.737A>T NP_001258928.1:p.Glu246Val NC_000001.11:62647771:T:A p.(Glu246Val) NC_000001.11:62647771:T:A p.(Glu246Val) NC_000001.11:62647771:T:A Identity +NM_001143773.1:c.887C>T NP_001137245.1:p.Ala296Val NC_000010.11:59262533:G:A p.(Ala296Val) NC_000010.11:59262533:G:A p.(Ala296Val) NC_000010.11:59262533:G:A Identity +NM_178818.3:c.546G>C NP_848933.1:p.Gln182His NC_000016.10:66622138:C:G p.(Gln182His) NC_000016.10:66622138:C:G p.(Gln182His) NC_000016.10:66622138:C:G Identity +NM_001409.4:c.4231G>A NP_001400.3:p.Gly1411Ser NC_000001.11:3494022:C:T p.(Gly1411Ser) NC_000001.11:3494022:C:T p.(Gly1411Ser) NC_000001.11:3494022:C:T Identity +NM_015235.3:c.977C>T NP_056050.1:p.Pro326Leu NC_000010.11:51698572:G:A p.(Pro326Leu) NC_000010.11:51698572:G:A p.(Pro326Leu) NC_000010.11:51698572:G:A Identity +NM_001193268.3:c.2350C>T NP_001180197.1:p.His784Tyr NC_000019.10:45613617:G:A p.(His784Tyr) NC_000019.10:45613617:G:A p.(His784Tyr) NC_000019.10:45613617:G:A Identity +NM_000128.4:c.1456C>G NP_000119.1:p.Leu486Val NC_000004.12:186285788:C:G p.(Leu486Val) NC_000004.12:186285788:C:G p.(Leu486Val) NC_000004.12:186285788:C:G Identity +NM_153230.3:c.931A>G NP_694962.1:p.Ile311Val NC_000017.11:6780798:A:G p.(Ile311Val) NC_000017.11:6780798:A:G p.(Ile311Val) NC_000017.11:6780798:A:G Identity +NM_001100122.2:c.1861G>A NP_001093592.1:p.Asp621Asn NC_000019.10:1114275:C:T p.(Asp621Asn) NC_000019.10:1114275:C:T p.(Asp621Asn) NC_000019.10:1114275:C:T Identity +NM_000536.4:c.817A>G NP_000527.2:p.Ile273Val NC_000011.10:36593351:T:C p.(Ile273Val) NC_000011.10:36593351:T:C p.(Ile273Val) NC_000011.10:36593351:T:C Identity +NM_001178002.3:c.281C>T NP_001171473.1:p.Ser94Leu NC_000019.10:1808297:G:A p.(Ser94Leu) NC_000019.10:1808297:G:A p.(Ser94Leu) NC_000019.10:1808297:G:A Identity +NM_001004342.5:c.748C>A NP_001004342.3:p.Leu250Met NC_000001.11:231163716:C:A p.(Leu250Met) NC_000001.11:231163716:C:A p.(Leu250Met) NC_000001.11:231163716:C:A Identity +NM_001306212.2:c.2155G>A NP_001293141.1:p.Val719Met NC_000005.10:80079174:G:A p.(Val719Met) NC_000005.10:80079174:G:A p.(Val719Met) NC_000005.10:80079174:G:A Identity +NM_005447.4:c.1145C>T NP_005438.2:p.Ala382Val NC_000012.12:85804864:G:A p.(Ala382Val) NC_000012.12:85804864:G:A p.(Ala382Val) NC_000012.12:85804864:G:A Identity +NM_001289058.2:c.1275G>C NP_001275987.1:p.Met425Ile NC_000011.10:8392656:C:G p.(Met425Ile) NC_000011.10:8392656:C:G p.(Met425Ile) NC_000011.10:8392656:C:G Identity +NM_001278589.2:c.847T>C NP_001265518.1:p.Phe283Leu NC_000022.11:40827199:A:G p.(Phe283Leu) NC_000022.11:40827199:A:G p.(Phe283Leu) NC_000022.11:40827199:A:G Identity +NM_001387931.1:c.1381A>G NP_001374860.1:p.Lys461Glu NC_000014.9:64542229:A:G p.(Lys461Glu) NC_000014.9:64542229:A:G p.(Lys461Glu) NC_000014.9:64542229:A:G Identity +NM_001253835.2:c.314C>G NP_001240764.1:p.Pro105Arg NC_000004.12:57110037:G:C p.(Pro105Arg) NC_000004.12:57110037:G:C p.(Pro105Arg) NC_000004.12:57110037:G:C Identity +NM_001040105.2:c.2144C>A NP_001035194.1:p.Thr715Asn NC_000007.14:101033559:C:A p.(Thr715Asn) NC_000007.14:101033559:C:A p.(Thr715Asn) NC_000007.14:101033559:C:A Identity +NM_001282688.2:c.347C>A NP_001269617.1:p.Pro116His NC_000009.12:89325590:C:A p.(Pro116His) NC_000009.12:89325590:C:A p.(Pro116His) NC_000009.12:89325590:C:A Identity +NM_001280794.3:c.359G>A NP_001267723.2:p.Gly120Asp NC_000007.14:142866091:G:A p.(Gly120Asp) NC_000007.14:142866091:G:A p.(Gly120Asp) NC_000007.14:142866091:G:A Identity +NM_022780.4:c.163G>C NP_073617.1:p.Gly55Arg NC_000002.12:86740946:G:C p.(Gly55Arg) NC_000002.12:86740946:G:C p.(Gly55Arg) NC_000002.12:86740946:G:C Identity +NM_001285394.2:c.145G>A NP_001272323.1:p.Ala49Thr NC_000021.9:32311798:G:A p.(Ala49Thr) NC_000021.9:32311798:G:A p.(Ala49Thr) NC_000021.9:32311798:G:A Identity +NM_014452.5:c.29C>T NP_055267.1:p.Ala10Val NC_000006.12:47309482:G:A p.(Ala10Val) NC_000006.12:47309482:G:A p.(Ala10Val) NC_000006.12:47309482:G:A Identity +NM_005733.3:c.1079A>T NP_005724.1:p.Lys360Ile NC_000005.10:138183520:A:T p.(Lys360Ile) NC_000005.10:138183520:A:T p.(Lys360Ile) NC_000005.10:138183520:A:T Identity +NM_001307977.1:c.203A>C NP_001294906.1:p.Lys68Thr NC_000011.10:62839203:T:G p.(Lys68Thr) NC_000011.10:62839203:T:G p.(Lys68Thr) NC_000011.10:62839203:T:G Identity +NM_182532.3:c.106G>A NP_872338.1:p.Ala36Thr NC_000001.11:54986186:G:A p.(Ala36Thr) NC_000001.11:54986186:G:A p.(Ala36Thr) NC_000001.11:54986186:G:A Identity +NM_014699.4:c.3669G>C NP_055514.3:p.Gln1223His NC_000016.10:31079992:G:C p.(Gln1223His) NC_000016.10:31079992:G:C p.(Gln1223His) NC_000016.10:31079992:G:C Identity +NM_152794.4:c.229G>A NP_690007.1:p.Gly77Arg NC_000019.10:46305261:G:A p.(Gly77Arg) NC_000019.10:46305261:G:A p.(Gly77Arg) NC_000019.10:46305261:G:A Identity +NM_001256267.2:c.3173T>C NP_001243196.1:p.Val1058Ala NC_000010.11:68197365:T:C p.(Val1058Ala) NC_000010.11:68197365:T:C p.(Val1058Ala) NC_000010.11:68197365:T:C Identity +NM_001308392.2:c.1774G>A NP_001295321.1:p.Val592Ile NC_000016.10:64950886:C:T p.(Val592Ile) NC_000016.10:64950886:C:T p.(Val592Ile) NC_000016.10:64950886:C:T Identity +NM_178523.5:c.359C>G NP_848618.2:p.Thr120Ser NC_000019.10:52116804:G:C p.(Thr120Ser) NC_000019.10:52116804:G:C p.(Thr120Ser) NC_000019.10:52116804:G:C Identity +NM_001033714.3:c.2201C>G NP_001028886.1:p.Ala734Gly NC_000012.12:6557218:G:C p.(Ala734Gly) NC_000012.12:6557218:G:C p.(Ala734Gly) NC_000012.12:6557218:G:C Identity +NM_032649.6:c.98C>T NP_116038.4:p.Ala33Val NC_000018.10:74556410:C:T p.(Ala33Val) NC_000018.10:74556410:C:T p.(Ala33Val) NC_000018.10:74556410:C:T Identity +NM_152372.4:c.187G>T NP_689585.3:p.Ala63Ser NC_000001.11:24108047:C:A p.(Ala63Ser) NC_000001.11:24108047:C:A p.(Ala63Ser) NC_000001.11:24108047:C:A Identity +NM_015180.6:c.15876G>A NP_055995.4:p.Met5292Ile NC_000014.9:64158707:G:A p.(Met5292Ile) NC_000014.9:64158707:G:A p.(Met5292Ile) NC_000014.9:64158707:G:A Identity +NM_001010851.3:c.698A>G NP_001010851.1:p.His233Arg NC_000019.10:52290488:A:G p.(His233Arg) NC_000019.10:52290488:A:G p.(His233Arg) NC_000019.10:52290488:A:G Identity +NM_001252335.2:c.2461G>C NP_001239264.1:p.Glu821Gln NC_000015.10:57516836:G:C p.(Glu821Gln) NC_000015.10:57516836:G:C p.(Glu821Gln) NC_000015.10:57516836:G:C Identity +NM_001012759.3:c.1411A>C NP_001012777.1:p.Lys471Gln NC_000016.10:88714917:A:C p.(Lys471Gln) NC_000016.10:88714917:A:C p.(Lys471Gln) NC_000016.10:88714917:A:C Identity +NM_001290263.2:c.592C>T NP_001277192.1:p.Arg198Trp NC_000002.12:224886064:G:A p.(Arg198Trp) NC_000002.12:224886064:G:A p.(Arg198Trp) NC_000002.12:224886064:G:A Identity +NM_001076780.3:c.798T>G NP_001070248.2:p.Phe266Leu NC_000016.10:81207597:A:C p.(Phe266Leu) NW_025791800.1:255858:A:C p.(Phe266Leu) NC_000016.10:255858:C:C Identity +NM_001256494.2:c.49G>C NP_001243423.1:p.Val17Leu NC_000015.10:75368534:C:G p.(Val17Leu) NC_000015.10:75368534:C:G p.(Val17Leu) NC_000015.10:75368534:C:G Identity +NM_001307990.2:c.1703G>A NP_001294919.1:p.Arg568His NC_000011.10:64796296:C:T p.(Arg568His) NC_000011.10:64796296:C:T p.(Arg568His) NC_000011.10:64796296:C:T Identity +NM_001122770.3:c.415A>T NP_001116242.1:p.Ser139Cys NC_000001.11:173870639:A:T p.(Ser139Cys) NC_000001.11:173870639:A:T p.(Ser139Cys) NC_000001.11:173870639:A:T Identity +NM_199339.3:c.663C>A NP_955371.2:p.Asn221Lys NC_000017.11:7421337:C:A p.(Asn221Lys) NC_000017.11:7421337:C:A p.(Asn221Lys) NC_000017.11:7421337:C:A Identity +NM_001193451.2:c.745C>T NP_001180380.1:p.Leu249Phe NC_000012.12:29751858:G:A p.(Leu249Phe) NC_000012.12:29751858:G:A p.(Leu249Phe) NC_000012.12:29751858:G:A Identity +NM_001142286.2:c.1310C>A NP_001135758.1:p.Ala437Asp NC_000002.12:17716776:G:T p.(Ala437Asp) NC_000002.12:17716776:G:T p.(Ala437Asp) NC_000002.12:17716776:G:T Identity +NM_024122.5:c.224C>A NP_077027.1:p.Thr75Lys NC_000023.11:23878927:G:T p.(Thr75Lys) NC_000023.11:23878927:G:T p.(Thr75Lys) NC_000023.11:23878927:G:T Identity +NM_018429.3:c.3772G>A NP_060899.2:p.Gly1258Arg NC_000005.10:71510863:G:A p.(Gly1258Arg) NC_000005.10:71510863:G:A p.(Gly1258Arg) NC_000005.10:71510863:G:A Identity +NM_032221.5:c.6520G>A NP_115597.3:p.Glu2174Lys NC_000020.11:41415604:C:T p.(Glu2174Lys) NC_000020.11:41415604:C:T p.(Glu2174Lys) NC_000020.11:41415604:C:T Identity +NM_057161.4:c.1040T>C NP_476502.1:p.Ile347Thr NC_000006.12:43019323:T:C p.(Ile347Thr) NC_000006.12:43019323:T:C p.(Ile347Thr) NC_000006.12:43019323:T:C Identity +NM_001005195.1:c.739G>A NP_001005195.1:p.Val247Ile NC_000011.10:124542915:C:T p.(Val247Ile) NC_000011.10:124542915:C:T p.(Val247Ile) NC_000011.10:124542915:C:T Identity +NM_001035506.1:c.2589G>C NP_001030583.1:p.Arg863Ser NC_000002.12:27070190:G:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_001135768.3:c.206A>T NP_001129240.1:p.His69Leu NC_000019.10:44647348:A:T p.(His69Leu) NC_000019.10:44647348:A:T p.(His69Leu) NC_000019.10:44647348:A:T Identity +NM_001122679.2:c.143C>T NP_001116151.1:p.Ala48Val NC_000005.10:167284979:C:T p.(Ala48Val) NC_000005.10:167284979:C:T p.(Ala48Val) NC_000005.10:167284979:C:T Identity +NM_001098509.2:c.1519T>G NP_001091979.1:p.Cys507Gly NC_000017.11:2372353:T:G p.(Cys507Gly) NC_000017.11:2372353:T:G p.(Cys507Gly) NC_000017.11:2372353:T:G Identity +NM_001248006.2:c.550G>C NP_001234935.1:p.Gly184Arg NC_000011.10:6457441:C:G p.(Gly184Arg) NC_000011.10:6457441:C:G p.(Gly184Arg) NC_000011.10:6457441:C:G Identity +NM_001007525.5:c.449G>T NP_001007526.3:p.Arg150Met NC_000019.10:16744670:G:T p.(Arg150Met) NC_000019.10:16744670:G:T p.(Arg150Met) NC_000019.10:16744670:G:T Identity +NM_001114974.2:c.833C>T NP_001108446.1:p.Ser278Leu NC_000017.11:4595170:C:T p.(Ser278Leu) NC_000017.11:4595170:C:T p.(Ser278Leu) NC_000017.11:4595170:C:T Identity +NM_001040272.6:c.1103T>A NP_001035362.3:p.Ile368Asn NC_000009.12:18675873:T:A p.(Ile368Asn) NC_000009.12:18675873:T:A p.(Ile368Asn) NC_000009.12:18675873:T:A Identity +NM_001105669.4:c.112G>A NP_001099139.2:p.Ala38Thr NC_000001.11:156581475:G:A p.(Ala38Thr) NC_000001.11:156581475:G:A p.(Ala38Thr) NC_000001.11:156581475:G:A Identity +NM_001256371.2:c.1769G>A NP_001243300.1:p.Gly590Glu NC_000011.10:19229577:C:T p.(Gly590Glu) NC_000011.10:19229577:C:T p.(Gly590Glu) NC_000011.10:19229577:C:T Identity +NM_001278524.2:c.1462A>G NP_001265453.1:p.Thr488Ala NC_000010.11:96157783:A:G p.(Thr488Ala) NC_000010.11:96157783:A:G p.(Thr488Ala) NC_000010.11:96157783:A:G Identity +NM_001077195.2:c.98C>G NP_001070663.1:p.Ala33Gly NC_000001.11:23367103:G:C p.(Ala33Gly) NC_000001.11:23367103:G:C p.(Ala33Gly) NC_000001.11:23367103:G:C Identity +NM_001256090.2:c.153G>T NP_001243019.1:p.Met51Ile NC_000002.12:175121489:C:A p.(Met51Ile) NC_000002.12:175121489:C:A p.(Met51Ile) NC_000002.12:175121489:C:A Identity +NM_000278.5:c.808C>T NP_000269.3:p.Leu270Phe NC_000010.11:100809124:C:T p.(Leu270Phe) NC_000010.11:100809124:C:T p.(Leu270Phe) NC_000010.11:100809124:C:T Identity +NM_001346738.2:c.1136T>G NP_001333667.1:p.Val379Gly NC_000001.11:235131866:A:C p.(Val379Gly) NC_000001.11:235131866:A:C p.(Val379Gly) NC_000001.11:235131866:A:C Identity +NM_001354571.2:c.223G>A NP_001341500.1:p.Gly75Arg NC_000003.12:186615693:G:A p.(Gly75Arg) NC_000003.12:186615693:G:A p.(Gly75Arg) NC_000003.12:186615693:G:A Identity +NM_001004466.2:c.46G>A NP_001004466.1:p.Gly16Ser NC_000019.10:15794093:G:A p.(Gly16Ser) NC_000019.10:15794093:G:A p.(Gly16Ser) NC_000019.10:15794093:G:A Identity +NM_004223.5:c.108C>A NP_004214.1:p.His36Gln NC_000011.10:57560351:G:T p.(His36Gln) NC_000011.10:57560351:G:T p.(His36Gln) NC_000011.10:57560351:G:T Identity +NM_001134363.3:c.539C>A NP_001127835.2:p.Pro180His NC_000010.11:110781147:C:A p.(Pro180His) NC_000010.11:110781147:C:A p.(Pro180His) NC_000010.11:110781147:C:A Identity +NM_001005185.2:c.296T>C NP_001005185.1:p.Leu99Pro NC_000001.11:158766386:A:G p.(Leu99Pro) NC_000001.11:158766386:A:G p.(Leu99Pro) NC_000001.11:158766386:A:G Identity +NM_012448.4:c.177G>C NP_036580.2:p.Gln59His NC_000017.11:42227636:C:G p.(Gln59His) NC_000017.11:42227636:C:G p.(Gln59His) NC_000017.11:42227636:C:G Identity +NM_001281956.2:c.8273G>A NP_001268885.1:p.Arg2758Gln NC_000001.11:33567699:C:T p.(Arg2758Gln) NC_000001.11:33567699:C:T p.(Arg2758Gln) NC_000001.11:33567699:C:T Identity +NM_001394062.1:c.901G>A NP_001380991.1:p.Gly301Arg NC_000001.11:39283500:G:A p.(Gly301Arg) NC_000001.11:39283500:G:A p.(Gly301Arg) NC_000001.11:39283500:G:A Identity +NM_001109689.4:c.11C>G NP_001103159.1:p.Ala4Gly NC_000008.11:144890338:G:C p.(Ala4Gly) NC_000008.11:144890338:G:C p.(Ala4Gly) NC_000008.11:144890338:G:C Identity +NM_001102406.2:c.3488A>G NP_001095876.1:p.His1163Arg NC_000004.12:112439821:A:G p.(His1163Arg) NC_000004.12:112439821:A:G p.(His1163Arg) NC_000004.12:112439821:A:G Identity +NM_001278185.2:c.1177C>T NP_001265114.1:p.Pro393Ser NC_000010.11:67992292:G:A p.(Pro393Ser) NC_000010.11:67992292:G:A p.(Pro393Ser) NC_000010.11:67992292:G:A Identity +NM_001146006.2:c.799G>A NP_001139478.1:p.Ala267Thr NC_000016.10:1791732:C:T p.(Ala267Thr) NC_000016.10:1791732:C:T p.(Ala267Thr) NC_000016.10:1791732:C:T Identity +NM_001144950.2:c.3464C>A NP_001138422.1:p.Pro1155His NC_000019.10:55517739:C:A p.(Pro1155His) NC_000019.10:55517739:C:A p.(Pro1155His) NC_000019.10:55517739:C:A Identity +NM_181808.4:c.1282G>C NP_861524.2:p.Glu428Gln NC_000004.12:2174717:C:G p.(Glu428Gln) NC_000004.12:2174717:C:G p.(Glu428Gln) NC_000004.12:2174717:C:G Identity +NM_001382323.2:c.392A>G NP_001369252.1:p.Asp131Gly NC_000011.10:125385714:A:G p.(Asp131Gly) NC_000011.10:125385714:A:G p.(Asp131Gly) NC_000011.10:125385714:A:G Identity +NM_001098802.3:c.445T>G NP_001092272.1:p.Ser149Ala NC_000009.12:78240309:T:G p.(Ser149Ala) NC_000009.12:78240309:T:G p.(Ser149Ala) NC_000009.12:78240309:T:G Identity +NM_015231.3:c.548C>G NP_056046.2:p.Ser183Cys NC_000011.10:47839940:G:C p.(Ser183Cys) NC_000011.10:47839940:G:C p.(Ser183Cys) NC_000011.10:47839940:G:C Identity +NM_001080453.3:c.4298G>C NP_001073922.2:p.Cys1433Ser NC_000007.14:1479460:C:G p.(Cys1433Ser) NC_000007.14:1479460:C:G p.(Cys1433Ser) NC_000007.14:1479460:C:G Identity +NM_173483.4:c.1409C>T NP_775754.2:p.Ala470Val NC_000019.10:15550746:C:T p.(Ala470Val) NC_000019.10:15550746:C:T p.(Ala470Val) NC_000019.10:15550746:C:T Identity +NM_001346505.2:c.3542G>C NP_001333434.1:p.Arg1181Thr NC_000006.12:148548490:G:C p.(Arg1181Thr) NC_000006.12:148548490:G:C p.(Arg1181Thr) NC_000006.12:148548490:G:C Identity +NM_001349253.2:c.847T>G NP_001336182.1:p.Cys283Gly NC_000003.12:38921120:A:C p.(Cys283Gly) NC_000003.12:38921120:A:C p.(Cys283Gly) NC_000003.12:38921120:A:C Identity +NM_001077205.1:c.2954G>A NP_001070673.1:p.Gly985Glu NC_000012.12:43432445:C:T ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found +NM_001318226.2:c.703A>G NP_001305155.1:p.Lys235Glu NC_000020.11:25504892:T:C p.(Lys235Glu) NC_000020.11:25504892:T:C p.(Lys235Glu) NC_000020.11:25504892:T:C Identity +NM_001010846.3:c.1141G>A NP_001010846.1:p.Gly381Arg NC_000001.11:154486566:C:T p.(Gly381Arg) NC_000001.11:154486566:C:T p.(Gly381Arg) NC_000001.11:154486566:C:T Identity +NM_001098623.2:c.23735G>T NP_001092093.2:p.Arg7912Leu NC_000001.11:228378622:G:T p.(Arg7912Leu) NC_000001.11:228378622:G:T p.(Arg7912Leu) NC_000001.11:228378622:G:T Identity +NM_003149.3:c.412C>T NP_003140.1:p.Arg138Cys NC_000003.12:36483014:C:T p.(Arg138Cys) NC_000003.12:36483014:C:T p.(Arg138Cys) NC_000003.12:36483014:C:T Identity +NM_001039845.3:c.577C>T NP_001034934.1:p.Arg193Cys NC_000002.12:206755341:G:A p.(Arg193Cys) NC_000002.12:206755341:G:A p.(Arg193Cys) NC_000002.12:206755341:G:A Identity +NM_005173.4:c.392G>A NP_005164.2:p.Arg131His NC_000017.11:3951321:C:T p.(Arg131His) NC_000017.11:3951321:C:T p.(Arg131His) NC_000017.11:3951321:C:T Identity +NM_001284206.1:c.2089C>T NP_001271135.1:p.His697Tyr NC_000014.9:69054593:G:A p.(His697Tyr) NC_000014.9:69054593:G:A p.(His697Tyr) NC_000014.9:69054593:G:A Identity +NM_000078.3:c.242T>A NP_000069.2:p.Ile81Asn NC_000016.10:56969393:T:A p.(Ile81Asn) NC_000016.10:56969393:T:A p.(Ile81Asn) NC_000016.10:56969393:T:A Identity +NM_001304437.2:c.256A>C NP_001291366.1:p.Ile86Leu NC_000006.12:83054160:T:G p.(Ile86Leu) NC_000006.12:83054160:T:G p.(Ile86Leu) NC_000006.12:83054160:T:G Identity +NM_024871.4:c.328C>A NP_079147.1:p.Pro110Thr NC_000003.12:183825219:G:T p.(Pro110Thr) NC_000003.12:183825219:G:T p.(Pro110Thr) NC_000003.12:183825219:G:T Identity +NM_001098802.3:c.1010A>G NP_001092272.1:p.Gln337Arg NC_000009.12:78248813:A:G p.(Gln337Arg) NC_000009.12:78248813:A:G p.(Gln337Arg) NC_000009.12:78248813:A:G Identity +NM_005355.5:c.374T>C NP_005346.3:p.Val125Ala NC_000006.12:168038608:T:C p.(Val125Ala) NC_000006.12:168038608:T:C p.(Val125Ala) NC_000006.12:168038608:T:C Identity +NM_001243224.1:c.34G>A NP_001230153.1:p.Ala12Thr NC_000011.10:67393522:G:A p.(Ala12Thr) NC_000011.10:67393522:G:A p.(Ala12Thr) NC_000011.10:67393522:G:A Identity +NM_178468.6:c.1165A>G NP_848563.1:p.Ser389Gly NC_000020.11:35287613:T:C p.(Ser389Gly) NC_000020.11:35287613:T:C p.(Ser389Gly) NC_000020.11:35287613:T:C Identity +NM_001362836.2:c.1772A>C NP_001349765.1:p.Lys591Thr NC_000008.11:105802012:A:C p.(Lys591Thr) NC_000008.11:105802012:A:C p.(Lys591Thr) NC_000008.11:105802012:A:C Identity +NM_001365308.1:c.1294C>G NP_001352237.1:p.Leu432Val NC_000007.14:34079071:C:G p.(Leu432Val) NC_000007.14:34079071:C:G p.(Leu432Val) NC_000007.14:34079071:C:G Identity +NM_001039112.2:c.770A>G NP_001034201.2:p.Lys257Arg NC_000008.11:123975983:A:G p.(Lys257Arg) NC_000008.11:123975983:A:G p.(Lys257Arg) NC_000008.11:123975983:A:G Identity +NM_003179.3:c.514G>A NP_003170.1:p.Asp172Asn NC_000023.11:49193372:C:T p.(Asp172Asn) NC_000023.11:49193372:C:T p.(Asp172Asn) NC_000023.11:49193372:C:T Identity +NM_000233.4:c.590C>T NP_000224.2:p.Thr197Met NC_000002.12:48714000:G:A p.(Thr197Met) NC_000002.12:48714000:G:A p.(Thr197Met) NC_000002.12:48714000:G:A Identity +NM_139283.2:c.76G>T NP_644812.1:p.Ala26Ser NC_000012.12:110582955:C:A p.(Ala26Ser) NC_000012.12:110582955:C:A p.(Ala26Ser) NC_000012.12:110582955:C:A Identity +NM_001317929.4:c.1129G>A NP_001304858.3:p.Glu377Lys NC_000001.11:153777852:G:A p.(Glu377Lys) NC_000001.11:153777852:G:A p.(Glu377Lys) NC_000001.11:153777852:G:A Identity +NM_001300905.2:c.4802G>A NP_001287834.1:p.Arg1601Gln NC_000012.12:56600290:C:T p.(Arg1601Gln) NC_000012.12:56600290:C:T p.(Arg1601Gln) NC_000012.12:56600290:C:T Identity +NM_001190977.3:c.361T>C NP_001177906.1:p.Ser121Pro NC_000012.12:42160644:A:G p.(Ser121Pro) NC_000012.12:42160644:A:G p.(Ser121Pro) NC_000012.12:42160644:A:G Identity +NM_001004745.2:c.661G>T NP_001004745.1:p.Val221Phe NC_000011.10:56276298:G:T p.(Val221Phe) NC_000011.10:56276298:G:T p.(Val221Phe) NC_000011.10:56276298:G:T Identity +NM_001083335.2:c.2102G>A NP_001076804.1:p.Ser701Asn NC_000019.10:44328072:C:T p.(Ser701Asn) NC_000019.10:44328072:C:T p.(Ser701Asn) NC_000019.10:44328072:C:T Identity +NM_015168.2:c.682C>T NP_055983.1:p.Arg228Trp NC_000019.10:47089999:G:A p.(Arg228Trp) NC_000019.10:47089999:G:A p.(Arg228Trp) NC_000019.10:47089999:G:A Identity +NM_001002843.3:c.2000A>G NP_001002843.1:p.Lys667Arg NC_000015.10:56658441:T:C p.(Lys667Arg) NC_000015.10:56658441:T:C p.(Lys667Arg) NC_000015.10:56658441:T:C Identity +NM_052843.4:c.19189C>T NP_443075.3:p.Pro6397Ser NC_000001.11:228360080:C:T p.(Pro6397Ser) NC_000001.11:228360080:C:T p.(Pro6397Ser) NC_000001.11:228360080:C:T Identity +NM_025250.3:c.867T>A NP_079526.1:p.Ser289Arg NC_000007.14:2649983:T:A p.(Ser289Arg) NC_000007.14:2649983:T:A p.(Ser289Arg) NC_000007.14:2649983:T:A Identity +NM_001206927.2:c.6437T>C NP_001193856.1:p.Phe2146Ser NC_000006.12:38863998:T:C p.(Phe2146Ser) NC_000006.12:38863998:T:C p.(Phe2146Ser) NC_000006.12:38863998:T:C Identity +NM_002060.3:c.439A>G NP_002051.2:p.Ile147Val NC_000001.11:34794651:A:G p.(Ile147Val) NC_000001.11:34794651:A:G p.(Ile147Val) NC_000001.11:34794651:A:G Identity +NM_001164814.2:c.1844C>T NP_001158286.2:p.Ala615Val NC_000014.9:23079664:G:A p.(Ala615Val) NC_000014.9:23079664:G:A p.(Ala615Val) NC_000014.9:23079664:G:A Identity +NM_001282750.2:c.350G>C NP_001269679.1:p.Gly117Ala NC_000001.11:172557296:G:C p.(Gly117Ala) NC_000001.11:172557296:G:C p.(Gly117Ala) NC_000001.11:172557296:G:C Identity +NM_001079812.3:c.41C>T NP_001073280.1:p.Thr14Ile NC_000005.10:141618873:G:A p.(Thr14Ile) NC_000005.10:141618873:G:A p.(Thr14Ile) NC_000005.10:141618873:G:A Identity +NM_182578.4:c.643T>G NP_872384.2:p.Tyr215Asp NC_000001.11:151847794:A:C p.(Tyr215Asp) NC_000001.11:151847794:A:C p.(Tyr215Asp) NC_000001.11:151847794:A:C Identity +NM_152390.3:c.320T>C NP_689603.2:p.Leu107Pro NC_000002.12:39666293:T:C p.(Leu107Pro) NC_000002.12:39666293:T:C p.(Leu107Pro) NC_000002.12:39666293:T:C Identity +NM_002473.6:c.4981C>G NP_002464.1:p.Arg1661Gly NC_000022.11:36286797:G:C p.(Arg1661Gly) NC_000022.11:36286797:G:C p.(Arg1661Gly) NC_000022.11:36286797:G:C Identity +NM_003943.5:c.538A>C NP_003934.1:p.Lys180Gln NC_000004.12:76309460:A:C p.(Lys180Gln) NC_000004.12:76309460:A:C p.(Lys180Gln) NC_000004.12:76309460:A:C Identity +NM_001080428.3:c.3676C>G NP_001073897.2:p.Leu1226Val NC_000005.10:168218283:C:G p.(Leu1226Val) NC_000005.10:168218283:C:G p.(Leu1226Val) NC_000005.10:168218283:C:G Identity +NM_001130527.3:c.336G>C NP_001123999.1:p.Gln112His NC_000017.11:51079671:C:G p.(Gln112His) NC_000017.11:51079671:C:G p.(Gln112His) NC_000017.11:51079671:C:G Identity +NM_015113.4:c.7793A>G NP_055928.3:p.Lys2598Arg NC_000017.11:4017578:T:C p.(Lys2598Arg) NC_000017.11:4017578:T:C p.(Lys2598Arg) NC_000017.11:4017578:T:C Identity +NM_004712.5:c.1729G>A NP_004703.1:p.Gly577Arg NC_000017.11:81696844:G:A p.(Gly577Arg) NC_000017.11:81696844:G:A p.(Gly577Arg) NC_000017.11:81696844:G:A Identity +NM_015078.4:c.1440G>T NP_055893.4:p.Leu480Phe NC_000003.12:183297032:C:A p.(Leu480Phe) NC_000003.12:183297032:C:A p.(Leu480Phe) NC_000003.12:183297032:C:A Identity +NM_015354.3:c.4033C>T NP_056169.1:p.Arg1345Cys NC_000009.12:129001717:C:T p.(Arg1345Cys) NC_000009.12:129001717:C:T p.(Arg1345Cys) NC_000009.12:129001717:C:T Identity +NM_001242894.2:c.971C>T NP_001229823.1:p.Ala324Val NC_000006.12:28365638:C:T p.(Ala324Val) NC_000006.12:28365638:C:T p.(Ala324Val) NC_000006.12:28365638:C:T Identity +NM_001199775.1:c.2738G>A NP_001186704.1:p.Ser913Asn NC_000017.11:30456506:G:A p.(Ser913Asn) NC_000017.11:30456506:G:A p.(Ser913Asn) NC_000017.11:30456506:G:A Identity +NM_001317031.2:c.424C>G NP_001303960.1:p.Leu142Val NC_000019.10:11147880:G:C p.(Leu142Val) NC_000019.10:11147880:G:C p.(Leu142Val) NC_000019.10:11147880:G:C Identity +NM_001008485.2:c.874G>A NP_001008485.2:p.Ala292Thr NC_000003.12:126016746:C:T p.(Ala292Thr) NC_000003.12:126016746:C:T p.(Ala292Thr) NC_000003.12:126016746:C:T Identity +NM_004055.5:c.1429C>T NP_004046.2:p.Pro477Ser NC_000011.10:77120850:C:T p.(Pro477Ser) NC_000011.10:77120850:C:T p.(Pro477Ser) NC_000011.10:77120850:C:T Identity +NM_001159390.2:c.53C>T NP_001152862.1:p.Pro18Leu NC_000001.11:228140354:C:T p.(Pro18Leu) NC_000001.11:228140354:C:T p.(Pro18Leu) NC_000001.11:228140354:C:T Identity +NM_001195220.2:c.1072T>C NP_001182149.1:p.Phe358Leu NC_000007.14:149281773:T:C p.(Phe358Leu) NC_000007.14:149281773:T:C p.(Phe358Leu) NC_000007.14:149281773:T:C Identity +NM_001142459.2:c.512G>A NP_001135931.2:p.Gly171Glu NC_000007.14:151186463:C:T p.(Gly171Glu) NC_000007.14:151186463:C:T p.(Gly171Glu) NC_000007.14:151186463:C:T Identity +NM_001304519.2:c.557C>T NP_001291448.1:p.Ser186Leu NC_000007.14:27246303:C:T p.(Ser186Leu) NC_000007.14:27246303:C:T p.(Ser186Leu) NC_000007.14:27246303:C:T Identity +NM_173508.4:c.195C>A NP_775779.1:p.Ser65Arg NC_000001.11:233905669:C:A p.(Ser65Arg) NC_000001.11:233905669:C:A p.(Ser65Arg) NC_000001.11:233905669:C:A Identity +NM_001031672.4:c.527A>G NP_001026842.2:p.Tyr176Cys NC_000001.11:54184173:T:C p.(Tyr176Cys) NC_000001.11:54184173:T:C p.(Tyr176Cys) NC_000001.11:54184173:T:C Identity +NM_001258379.2:c.3026A>C NP_001245308.1:p.Lys1009Thr NC_000003.12:27385973:T:G p.(Lys1009Thr) NC_000003.12:27385973:T:G p.(Lys1009Thr) NC_000003.12:27385973:T:G Identity +NM_001142473.2:c.160C>A NP_001135945.1:p.Pro54Thr NC_000001.11:206911943:G:T p.(Pro54Thr) NC_000001.11:206911943:G:T p.(Pro54Thr) NC_000001.11:206911943:G:T Identity +NM_001012302.3:c.1592C>T NP_001012302.2:p.Pro531Leu NC_000011.10:420758:G:A p.(Pro531Leu) NC_000011.10:420758:G:A p.(Pro531Leu) NC_000011.10:420758:G:A Identity +NM_016441.3:c.290A>G NP_057525.1:p.Asn97Ser NC_000002.12:36356581:A:G p.(Asn97Ser) NC_000002.12:36356581:A:G p.(Asn97Ser) NC_000002.12:36356581:A:G Identity +NM_001321431.2:c.5248G>A NP_001308360.1:p.Ala1750Thr NC_000019.10:8097327:C:T p.(Ala1750Thr) NC_000019.10:8097327:C:T p.(Ala1750Thr) NC_000019.10:8097327:C:T Identity +NM_001199160.2:c.3464G>A NP_001186089.1:p.Arg1155Gln NC_000003.12:49111024:C:T p.(Arg1155Gln) NC_000003.12:49111024:C:T p.(Arg1155Gln) NC_000003.12:49111024:C:T Identity +NM_001150.3:c.263C>T NP_001141.2:p.Thr88Met NC_000015.10:89806320:G:A p.(Thr88Met) NC_000015.10:89806320:G:A p.(Thr88Met) NC_000015.10:89806320:G:A Identity +NM_022725.4:c.389A>G NP_073562.1:p.Gln130Arg NC_000011.10:22625421:T:C p.(Gln130Arg) NC_000011.10:22625421:T:C p.(Gln130Arg) NC_000011.10:22625421:T:C Identity +NM_014415.4:c.17G>A NP_055230.2:p.Ser6Asn NC_000003.12:101676897:C:T p.(Ser6Asn) NC_000003.12:101676897:C:T p.(Ser6Asn) NC_000003.12:101676897:C:T Identity +NM_001142497.3:c.118A>C NP_001135969.1:p.Lys40Gln NC_000016.10:74695639:T:G p.(Lys40Gln) NC_000016.10:74695639:T:G p.(Lys40Gln) NC_000016.10:74695639:T:G Identity +NM_173582.6:c.310T>C NP_775853.2:p.Ser104Pro NC_000011.10:74371786:A:G p.(Ser104Pro) NC_000011.10:74371786:A:G p.(Ser104Pro) NC_000011.10:74371786:A:G Identity +NM_000332.4:c.1033G>C NP_000323.2:p.Gly345Arg NC_000006.12:16327277:C:G p.(Gly345Arg) NC_000006.12:16327277:C:G p.(Gly345Arg) NC_000006.12:16327277:C:G Identity +NM_080822.3:c.326T>C NP_543012.1:p.Leu109Pro NC_000017.11:2042745:T:C p.(Leu109Pro) NC_000017.11:2042745:T:C p.(Leu109Pro) NC_000017.11:2042745:T:C Identity +NM_001348181.2:c.2725G>A NP_001335110.1:p.Asp909Asn NC_000002.12:24258008:C:T p.(Asp909Asn) NC_000002.12:24258008:C:T p.(Asp909Asn) NC_000002.12:24258008:C:T Identity +NM_001101654.2:c.301G>A NP_001095124.1:p.Glu101Lys NC_000018.10:50286179:C:T p.(Glu101Lys) NC_000018.10:50286179:C:T p.(Glu101Lys) NC_000018.10:50286179:C:T Identity +NM_001351678.2:c.1187C>A NP_001338607.1:p.Ser396Tyr NC_000019.10:9467441:G:T p.(Ser396Tyr) NC_000019.10:9467441:G:T p.(Ser396Tyr) NC_000019.10:9467441:G:T Identity +NM_002033.4:c.1540G>A NP_002024.1:p.Ala514Thr NC_000011.10:94545672:G:A p.(Ala514Thr) NC_000011.10:94545672:G:A p.(Ala514Thr) NC_000011.10:94545672:G:A Identity +NM_001001415.4:c.122T>C NP_001001415.2:p.Val41Ala NC_000019.10:21529775:T:C p.(Val41Ala) NC_000019.10:21529775:T:C p.(Val41Ala) NC_000019.10:21529775:T:C Identity +NM_001193307.2:c.1304A>G NP_001180236.1:p.Lys435Arg NC_000007.14:93104793:T:C p.(Lys435Arg) NC_000007.14:93104793:T:C p.(Lys435Arg) NC_000007.14:93104793:T:C Identity +NM_002153.3:c.535C>T NP_002144.1:p.Leu179Phe NC_000016.10:82070997:C:T p.(Leu179Phe) NC_000016.10:82070997:C:T p.(Leu179Phe) NC_000016.10:82070997:C:T Identity +NM_181501.2:c.2383C>A NP_852478.1:p.Pro795Thr NC_000005.10:52922866:C:A p.(Pro795Thr) NC_000005.10:52922866:C:A p.(Pro795Thr) NC_000005.10:52922866:C:A Identity +NM_006269.2:c.6377G>T NP_006260.1:p.Cys2126Phe NC_000008.11:54630258:G:T p.(Cys2126Phe) NC_000008.11:54630258:G:T p.(Cys2126Phe) NC_000008.11:54630258:G:T Identity +NM_032427.4:c.341C>T NP_115803.1:p.Ala114Val NC_000011.10:96341554:G:A p.(Ala114Val) NC_000011.10:96341554:G:A p.(Ala114Val) NC_000011.10:96341554:G:A Identity +NM_001128310.3:c.891G>T NP_001121782.1:p.Glu297Asp NC_000004.12:87493908:C:A p.(Glu297Asp) NC_000004.12:87493908:C:A p.(Glu297Asp) NC_000004.12:87493908:C:A Identity +NM_001083590.2:c.617G>A NP_001077059.1:p.Arg206Gln NC_000002.12:27036517:G:A p.(Arg206Gln) NC_000002.12:27036517:G:A p.(Arg206Gln) NC_000002.12:27036517:G:A Identity +NM_001004706.1:c.560T>C NP_001004706.1:p.Leu187Pro NC_000011.10:59504134:T:C p.(Leu187Pro) NC_000011.10:59504134:T:C p.(Leu187Pro) NC_000011.10:59504134:T:C Identity +NM_001199829.2:c.899G>T NP_001186758.1:p.Ser300Ile NC_000001.11:150704145:C:A p.(Ser300Ile) NC_000001.11:150704145:C:A p.(Ser300Ile) NC_000001.11:150704145:C:A Identity +NM_001079812.3:c.1697C>T NP_001073280.1:p.Ser566Phe NC_000005.10:141574125:G:A p.(Ser566Phe) NC_000005.10:141574125:G:A p.(Ser566Phe) NC_000005.10:141574125:G:A Identity +NM_001301060.2:c.44G>A NP_001287989.1:p.Arg15His NC_000001.11:2391489:C:T p.(Arg15His) NC_000001.11:2391489:C:T p.(Arg15His) NC_000001.11:2391489:C:T Identity +NM_152232.6:c.262C>G NP_689418.2:p.Leu88Val NC_000001.11:18857551:G:C p.(Leu88Val) NC_000001.11:18857551:G:C p.(Leu88Val) NC_000001.11:18857551:G:C Identity +NM_015630.4:c.371T>C NP_056445.3:p.Leu124Ser NC_000002.12:148743678:T:C p.(Leu124Ser) NC_000002.12:148743678:T:C p.(Leu124Ser) NC_000002.12:148743678:T:C Identity +NM_021647.8:c.71C>T NP_067679.6:p.Thr24Ile NC_000004.12:170005806:G:A p.(Thr24Ile) NC_000004.12:170005806:G:A p.(Thr24Ile) NC_000004.12:170005806:G:A Identity +NM_000678.4:c.818T>C NP_000669.1:p.Met273Thr NC_000020.11:4248139:A:G p.(Met273Thr) NC_000020.11:4248139:A:G p.(Met273Thr) NC_000020.11:4248139:A:G Identity +NM_001371116.1:c.1613G>A NP_001358045.1:p.Arg538His NC_000004.12:152974903:G:A p.(Arg538His) NC_000004.12:152974903:G:A p.(Arg538His) NC_000004.12:152974903:G:A Identity +NM_001377376.1:c.2804A>G NP_001364305.1:p.Asp935Gly NC_000001.11:33495147:A:G p.(Asp935Gly) NC_000001.11:33495147:A:G p.(Asp935Gly) NC_000001.11:33495147:A:G Identity +NM_001101667.2:c.1663G>C NP_001095137.1:p.Gly555Arg NC_000004.12:8375142:C:G p.(Gly555Arg) NC_000004.12:8375142:C:G p.(Gly555Arg) NC_000004.12:8375142:C:G Identity +NM_173808.3:c.740G>C NP_776169.2:p.Gly247Ala NC_000001.11:71611073:C:G p.(Gly247Ala) NC_000001.11:71611073:C:G p.(Gly247Ala) NC_000001.11:71611073:C:G Identity +NM_001166221.2:c.97G>A NP_001159693.1:p.Asp33Asn NC_000023.11:129907436:G:A p.(Asp33Asn) NC_000023.11:129907436:G:A p.(Asp33Asn) NC_000023.11:129907436:G:A Identity +NM_001320674.2:c.713G>A NP_001307603.2:p.Arg238Gln NC_000015.10:59669356:C:T p.(Arg238Gln) NC_000015.10:59669356:C:T p.(Arg238Gln) NC_000015.10:59669356:C:T Identity +NM_001164276.2:c.1296G>A NP_001157748.1:p.Met432Ile NC_000019.10:12273102:C:T p.(Met432Ile) NC_000019.10:12273102:C:T p.(Met432Ile) NC_000019.10:12273102:C:T Identity +NM_001397606.1:c.2422T>C NP_001384535.1:p.Tyr808His NC_000002.12:233980253:T:C p.(Tyr808His) NC_000002.12:233980253:T:C p.(Tyr808His) NC_000002.12:233980253:T:C Identity +NM_020898.3:c.885C>A NP_065949.1:p.His295Gln NC_000012.12:53716379:G:T p.(His295Gln) NC_000012.12:53716379:G:T p.(His295Gln) NC_000012.12:53716379:G:T Identity +NM_001164211.2:c.1528G>T NP_001157683.2:p.Val510Leu NC_000013.11:46711790:G:T p.(Val510Leu) NC_000013.11:46711790:G:T p.(Val510Leu) NC_000013.11:46711790:G:T Identity +NM_018994.3:c.1916T>C NP_061867.1:p.Met639Thr NC_000001.11:16250907:A:G p.(Met639Thr) NC_000001.11:16250907:A:G p.(Met639Thr) NC_000001.11:16250907:A:G Identity +NM_001142651.3:c.595A>G NP_001136123.1:p.Thr199Ala NC_000005.10:172683435:A:G p.(Thr199Ala) NC_000005.10:172683435:A:G p.(Thr199Ala) NC_000005.10:172683435:A:G Identity +NM_001172420.2:c.1814A>G NP_001165891.1:p.His605Arg NC_000006.12:52492288:A:G p.(His605Arg) NC_000006.12:52492288:A:G p.(His605Arg) NC_000006.12:52492288:A:G Identity +NM_014600.3:c.1169T>C NP_055415.1:p.Ile390Thr NC_000002.12:31266264:T:C p.(Ile390Thr) NC_000002.12:31266264:T:C p.(Ile390Thr) NC_000002.12:31266264:T:C Identity +NM_001100624.3:c.667C>A NP_001094094.2:p.Gln223Lys NC_000016.10:81024747:C:A p.(Gln223Lys) NC_000016.10:81024747:C:A p.(Gln223Lys) NC_000016.10:81024747:C:A Identity +NM_000102.4:c.962A>G NP_000093.1:p.Asn321Ser NC_000010.11:102832999:T:C p.(Asn321Ser) NC_000010.11:102832999:T:C p.(Asn321Ser) NC_000010.11:102832999:T:C Identity +NM_001136191.3:c.1529C>T NP_001129663.1:p.Ser510Leu NC_000019.10:11176808:G:A p.(Ser510Leu) NC_000019.10:11176808:G:A p.(Ser510Leu) NC_000019.10:11176808:G:A Identity +NM_024881.5:c.464T>C NP_079157.3:p.Ile155Thr NC_000019.10:16571539:A:G p.(Ile155Thr) NC_000019.10:16571539:A:G p.(Ile155Thr) NC_000019.10:16571539:A:G Identity +NM_001284356.2:c.177A>T NP_001271285.1:p.Gln59His NC_000008.11:10832936:T:A p.(Gln59His) NC_000008.11:10832936:T:A p.(Gln59His) NC_000008.11:10832936:T:A Identity +NM_001256627.2:c.822G>T NP_001243556.1:p.Lys274Asn NC_000011.10:1445302:G:T p.(Lys274Asn) NC_000011.10:1445302:G:T p.(Lys274Asn) NC_000011.10:1445302:G:T Identity +NM_005149.3:c.520G>C NP_005140.1:p.Val174Leu NC_000001.11:168293194:G:C p.(Val174Leu) NC_000001.11:168293194:G:C p.(Val174Leu) NC_000001.11:168293194:G:C Identity +NM_001001567.2:c.1569A>C NP_001001567.1:p.Arg523Ser NC_000021.9:42772500:A:C p.(Arg523Ser) NC_000021.9:42772500:A:C p.(Arg523Ser) NC_000021.9:42772500:A:C Identity +NM_001410985.1:c.1670G>A NP_001397914.1:p.Gly557Glu NC_000002.12:206573127:G:A p.(Gly557Glu) NC_000002.12:206573127:G:A p.(Gly557Glu) NC_000002.12:206573127:G:A Identity +NM_139057.4:c.394C>T NP_620688.2:p.Leu132Phe NC_000015.10:100341094:G:A p.(Leu132Phe) NC_000015.10:100341094:G:A p.(Leu132Phe) NC_000015.10:100341094:G:A Identity +NM_001316722.3:c.180C>A NP_001303651.1:p.Ser60Arg NC_000001.11:20172890:G:T p.(Ser60Arg) NC_000001.11:20172890:G:T p.(Ser60Arg) NC_000001.11:20172890:G:T Identity +NM_001286124.2:c.803G>A NP_001273053.1:p.Arg268Gln NC_000001.11:220618648:G:A p.(Arg268Gln) NC_000001.11:220618648:G:A p.(Arg268Gln) NC_000001.11:220618648:G:A Identity +NM_004443.4:c.2773A>C NP_004434.2:p.Thr925Pro NC_000003.12:184581292:A:C p.(Thr925Pro) NC_000003.12:184581292:A:C p.(Thr925Pro) NC_000003.12:184581292:A:C Identity +NM_001257180.2:c.1450C>T NP_001244109.1:p.His484Tyr NC_000008.11:42437061:G:A p.(His484Tyr) NC_000008.11:42437061:G:A p.(His484Tyr) NC_000008.11:42437061:G:A Identity +NM_001201457.2:c.2083T>C NP_001188386.1:p.Ser695Pro NC_000017.11:58599279:A:G p.(Ser695Pro) NC_000017.11:58599279:A:G p.(Ser695Pro) NC_000017.11:58599279:A:G Identity +NM_001079880.2:c.2620C>T NP_001073349.1:p.Arg874Cys NC_000019.10:46674539:G:A p.(Arg874Cys) NC_000019.10:46674539:G:A p.(Arg874Cys) NC_000019.10:46674539:G:A Identity +NM_001317744.2:c.592C>G NP_001304673.1:p.Pro198Ala NC_000021.9:39475203:C:G p.(Pro198Ala) NC_000021.9:39475203:C:G p.(Pro198Ala) NC_000021.9:39475203:C:G Identity +NM_001320350.2:c.352C>T NP_001307279.2:p.His118Tyr NC_000021.9:44364210:C:T p.(His118Tyr) NC_000021.9:44364210:C:T p.(His118Tyr) NC_000021.9:44364210:C:T Identity +NM_001197233.3:c.1302C>G NP_001184162.1:p.Ser434Arg NC_000006.12:26468449:C:G p.(Ser434Arg) NC_000006.12:26468449:C:G p.(Ser434Arg) NC_000006.12:26468449:C:G Identity +NM_001007466.3:c.1700G>A NP_001007467.1:p.Arg567Gln NC_000006.12:158493640:G:A p.(Arg567Gln) NC_000006.12:158493640:G:A p.(Arg567Gln) NC_000006.12:158493640:G:A Identity +NM_001115016.3:c.422A>T NP_001108488.1:p.Asn141Ile NC_000002.12:96619726:T:A p.(Asn141Ile) NC_000002.12:96619726:T:A p.(Asn141Ile) NC_000002.12:96619726:T:A Identity +NM_152718.2:c.1879G>T NP_689931.2:p.Ala627Ser NC_000011.10:61268924:C:A p.(Ala627Ser) NC_000011.10:61268924:C:A p.(Ala627Ser) NC_000011.10:61268924:C:A Identity +NM_001256552.1:c.1096T>G NP_001243481.1:p.Trp366Gly NC_000015.10:75353857:T:G p.(Trp366Gly) NC_000015.10:75353857:T:G p.(Trp366Gly) NC_000015.10:75353857:T:G Identity +NM_001381939.1:c.1955A>G NP_001368868.1:p.Asn652Ser NC_000006.12:169232001:T:C p.(Asn652Ser) NC_000006.12:169232001:T:C p.(Asn652Ser) NC_000006.12:169232001:T:C Identity +NM_001134285.3:c.1067C>G NP_001127757.1:p.Ser356Cys NC_000001.11:216507179:G:C p.(Ser356Cys) NC_000001.11:216507179:G:C p.(Ser356Cys) NC_000001.11:216507179:G:C Identity +NM_133638.6:c.1250A>G NP_598377.4:p.Lys417Arg NC_000005.10:129528598:A:G p.(Lys417Arg) NC_000005.10:129528598:A:G p.(Lys417Arg) NC_000005.10:129528598:A:G Identity +NM_017750.4:c.166A>C NP_060220.3:p.Lys56Gln NC_000002.12:85354341:T:G p.(Lys56Gln) NC_000002.12:85354341:T:G p.(Lys56Gln) NC_000002.12:85354341:T:G Identity +NM_001330295.2:c.718C>T NP_001317224.1:p.Arg240Cys NC_000012.12:56431570:G:A p.(Arg240Cys) NC_000012.12:56431570:G:A p.(Arg240Cys) NC_000012.12:56431570:G:A Identity +NM_000323.2:c.502C>G NP_000314.1:p.Pro168Ala NC_000010.11:43102505:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_002518.4:c.449T>C NP_002509.2:p.Leu150Pro NC_000002.12:100948319:T:C p.(Leu150Pro) NC_000002.12:100948319:T:C p.(Leu150Pro) NC_000002.12:100948319:T:C Identity +NM_006796.3:c.14G>C NP_006787.2:p.Cys5Ser NC_000018.10:12377068:C:G p.(Cys5Ser) NC_000018.10:12377068:C:G p.(Cys5Ser) NC_000018.10:12377068:C:G Identity +NM_001201564.2:c.197A>C NP_001188493.1:p.Lys66Thr NC_000004.12:154547772:T:G p.(Lys66Thr) NC_000004.12:154547772:T:G p.(Lys66Thr) NC_000004.12:154547772:T:G Identity +NM_001411139.1:c.1402A>G NP_001398068.1:p.Lys468Glu NC_000019.10:34466962:A:G p.(Lys468Glu) NC_000019.10:34466962:A:G p.(Lys468Glu) NC_000019.10:34466962:A:G Identity +NM_003195.6:c.332G>T NP_003186.1:p.Arg111Leu NC_000020.11:64069362:G:T p.(Arg111Leu) NC_000020.11:64069362:G:T p.(Arg111Leu) NC_000020.11:64069362:G:T Identity +NM_001278585.2:c.2246T>G NP_001265514.1:p.Val749Gly NC_000004.12:47603650:A:C p.(Val749Gly) NC_000004.12:47603650:A:C p.(Val749Gly) NC_000004.12:47603650:A:C Identity +NM_001251888.2:c.560C>T NP_001238817.1:p.Ser187Leu NC_000017.11:81996472:C:T p.(Ser187Leu) NC_000017.11:81996472:C:T p.(Ser187Leu) NC_000017.11:81996472:C:T Identity +NM_001277.3:c.172C>T NP_001268.2:p.Pro58Ser NC_000011.10:68121005:G:A p.(Pro58Ser) NC_000011.10:68121005:G:A p.(Pro58Ser) NC_000011.10:68121005:G:A Identity +NM_001320755.2:c.5167G>A NP_001307684.1:p.Glu1723Lys NC_000017.11:28701610:G:A p.(Glu1723Lys) NC_000017.11:28701610:G:A p.(Glu1723Lys) NC_000017.11:28701610:G:A Identity +NM_001145320.2:c.1699C>T NP_001138792.1:p.Arg567Trp NC_000009.12:133561246:C:T p.(Arg567Trp) NC_000009.12:133561246:C:T p.(Arg567Trp) NC_000009.12:133561246:C:T Identity +NM_001207076.3:c.941A>G NP_001194005.1:p.Asp314Gly NC_000020.11:35995122:A:G p.(Asp314Gly) NC_000020.11:35995122:A:G p.(Asp314Gly) NC_000020.11:35995122:A:G Identity +NM_001199943.2:c.725G>C NP_001186872.1:p.Arg242Pro NC_000019.10:4362369:C:G p.(Arg242Pro) NC_000019.10:4362369:C:G p.(Arg242Pro) NC_000019.10:4362369:C:G Identity +NM_001111018.2:c.6429C>A NP_001104488.1:p.Asn2143Lys NC_000011.10:20103700:C:A p.(Asn2143Lys) NC_000011.10:20103700:C:A p.(Asn2143Lys) NC_000011.10:20103700:C:A Identity +NM_001042454.3:c.79C>A NP_001035919.1:p.Arg27Ser NC_000016.10:31473505:C:A p.(Arg27Ser) NC_000016.10:31473505:C:A p.(Arg27Ser) NC_000016.10:31473505:C:A Identity +NM_014258.4:c.162A>G NP_055073.2:p.Ile54Met NC_000020.11:59921315:T:C p.(Ile54Met) NC_000020.11:59921315:T:C p.(Ile54Met) NC_000020.11:59921315:T:C Identity +NM_001204416.3:c.1250G>A NP_001191345.1:p.Gly417Glu NC_000014.9:72518508:G:A p.(Gly417Glu) NC_000014.9:72518508:G:A p.(Gly417Glu) NC_000014.9:72518508:G:A Identity +NM_017931.4:c.797G>T NP_060401.3:p.Gly266Val NC_000022.11:46285241:G:T p.(Gly266Val) NC_000022.11:46285241:G:T p.(Gly266Val) NC_000022.11:46285241:G:T Identity +NM_005447.4:c.157A>T NP_005438.2:p.Ile53Phe NC_000012.12:85805852:T:A p.(Ile53Phe) NC_000012.12:85805852:T:A p.(Ile53Phe) NC_000012.12:85805852:T:A Identity +NM_001142593.3:c.702C>G NP_001136065.1:p.Asn234Lys NC_000014.9:92951981:G:C p.(Asn234Lys) NC_000014.9:92951981:G:C p.(Asn234Lys) NC_000014.9:92951981:G:C Identity +NM_194313.4:c.1646G>C NP_919289.2:p.Gly549Ala NC_000009.12:34257960:C:G p.(Gly549Ala) NC_000009.12:34257960:C:G p.(Gly549Ala) NC_000009.12:34257960:C:G Identity +NM_001352260.2:c.3296A>C NP_001339189.1:p.His1099Pro NC_000019.10:30548914:A:C p.(His1099Pro) NC_000019.10:30548914:A:C p.(His1099Pro) NC_000019.10:30548914:A:C Identity +NM_014301.4:c.419A>G NP_055116.1:p.Glu140Gly NC_000012.12:108568905:A:G p.(Glu140Gly) NC_000012.12:108568905:A:G p.(Glu140Gly) NC_000012.12:108568905:A:G Identity +NM_032865.6:c.428C>T NP_116254.4:p.Ser143Phe NC_000017.11:40495997:G:A p.(Ser143Phe) NC_000017.11:40495997:G:A p.(Ser143Phe) NC_000017.11:40495997:G:A Identity +NM_001320321.2:c.344A>G NP_001307250.1:p.Tyr115Cys NC_000012.12:82896241:A:G p.(Tyr115Cys) NC_000012.12:82896241:A:G p.(Tyr115Cys) NC_000012.12:82896241:A:G Identity +NM_152701.5:c.2139G>T NP_689914.3:p.Lys713Asn NC_000007.14:48271804:G:T p.(Lys713Asn) NC_000007.14:48271804:G:T p.(Lys713Asn) NC_000007.14:48271804:G:T Identity +NM_001199746.2:c.139G>T NP_001186675.1:p.Ala47Ser NC_000002.12:176130504:G:T p.(Ala47Ser) NC_000002.12:176130504:G:T p.(Ala47Ser) NC_000002.12:176130504:G:T Identity +NM_002894.3:c.2180T>A NP_002885.1:p.Met727Lys NC_000018.10:23001621:T:A p.(Met727Lys) NC_000018.10:23001621:T:A p.(Met727Lys) NC_000018.10:23001621:T:A Identity +NM_001018089.3:c.1340G>A NP_001018099.1:p.Cys447Tyr NC_000015.10:60449215:C:T p.(Cys447Tyr) NC_000015.10:60449215:C:T p.(Cys447Tyr) NC_000015.10:60449215:C:T Identity +NM_005481.3:c.2326C>A NP_005472.2:p.Gln776Lys NC_000019.10:868935:G:T p.(Gln776Lys) NC_000019.10:868935:G:T p.(Gln776Lys) NC_000019.10:868935:G:T Identity +NM_001167856.3:c.292C>T NP_001161328.1:p.Pro98Ser NC_000012.12:123345515:G:A p.(Pro98Ser) NC_000012.12:123345515:G:A p.(Pro98Ser) NC_000012.12:123345515:G:A Identity +NM_000494.4:c.2557C>A NP_000485.3:p.Leu853Ile NC_000010.11:104041532:G:T p.(Leu853Ile) NC_000010.11:104041532:G:T p.(Leu853Ile) NC_000010.11:104041532:G:T Identity +NM_001042546.2:c.235C>T NP_001036011.2:p.Pro79Ser NC_000001.11:46668156:G:A p.(Pro79Ser) NC_000001.11:46668156:G:A p.(Pro79Ser) NC_000001.11:46668156:G:A Identity +NM_001145400.2:c.107C>T NP_001138872.1:p.Pro36Leu NC_000016.10:84191336:C:T p.(Pro36Leu) NC_000016.10:84191336:C:T p.(Pro36Leu) NC_000016.10:84191336:C:T Identity +NM_001114118.3:c.164C>T NP_001107590.1:p.Ser55Leu NC_000017.11:3846059:G:A p.(Ser55Leu) NC_000017.11:3846059:G:A p.(Ser55Leu) NC_000017.11:3846059:G:A Identity +NM_001291726.2:c.785C>T NP_001278655.1:p.Ser262Leu NC_000017.11:39672827:G:A p.(Ser262Leu) NC_000017.11:39672827:G:A p.(Ser262Leu) NC_000017.11:39672827:G:A Identity +NM_001384335.1:c.176G>A NP_001371264.1:p.Gly59Glu NC_000007.14:27110464:C:T p.(Gly59Glu) NC_000007.14:27110464:C:T p.(Gly59Glu) NC_000007.14:27110464:C:T Identity +NM_000142.5:c.194G>T NP_000133.1:p.Gly65Val NC_000004.12:1799337:G:T p.(Gly65Val) NC_000004.12:1799337:G:T p.(Gly65Val) NC_000004.12:1799337:G:T Identity +NM_020962.3:c.2635G>A NP_066013.1:p.Val879Met NC_000015.10:65388879:C:T p.(Val879Met) NC_000015.10:65388879:C:T p.(Val879Met) NC_000015.10:65388879:C:T Identity +NM_181787.3:c.1488G>C NP_861452.2:p.Met496Ile NC_000008.11:94777698:G:C p.(Met496Ile) NC_000008.11:94777698:G:C p.(Met496Ile) NC_000008.11:94777698:G:C Identity +NM_032840.3:c.176A>G NP_116229.1:p.His59Arg NC_000012.12:53075805:T:C p.(His59Arg) NC_000012.12:53075805:T:C p.(His59Arg) NC_000012.12:53075805:T:C Identity +NM_003482.4:c.11938C>T NP_003473.3:p.Gln3980Ter NC_000012.12:49032766:G:A p.(Gln3980Ter) NC_000012.12:49032766:G:A p.(Gln3980Ter) NC_000012.12:49032766:G:A Identity +NM_001177663.2:c.4546G>A NP_001171134.1:p.Asp1516Asn NC_000002.12:151464065:G:A p.(Asp1516Asn) NC_000002.12:151464065:G:A p.(Asp1516Asn) NC_000002.12:151464065:G:A Identity +NM_001348250.2:c.1094T>C NP_001335179.1:p.Phe365Ser NC_000003.12:11028749:T:C p.(Phe365Ser) NC_000003.12:11028749:T:C p.(Phe365Ser) NC_000003.12:11028749:T:C Identity +NM_015703.5:c.740G>C NP_056518.2:p.Arg247Pro NC_000022.11:42514122:C:G p.(Arg247Pro) NC_000022.11:42514122:C:G p.(Arg247Pro) NC_000022.11:42514122:C:G Identity +NM_001024383.2:c.980G>C NP_001019554.1:p.Ser327Thr NC_000012.12:78006517:G:C p.(Ser327Thr) NC_000012.12:78006517:G:C p.(Ser327Thr) NC_000012.12:78006517:G:C Identity +NM_001371223.1:c.3472G>A NP_001358152.1:p.Val1158Ile NC_000009.12:37745503:G:A p.(Val1158Ile) NC_000009.12:37745503:G:A p.(Val1158Ile) NC_000009.12:37745503:G:A Identity +NM_022365.4:c.179A>C NP_071760.2:p.Glu60Ala NC_000010.11:22003255:T:G p.(Glu60Ala) NC_000010.11:22003255:T:G p.(Glu60Ala) NC_000010.11:22003255:T:G Identity +NM_001171162.1:c.23G>C NP_001164633.1:p.Ser8Thr NC_000023.11:71253232:C:G p.(Ser8Thr) NC_000023.11:71253232:C:G p.(Ser8Thr) NC_000023.11:71253232:C:G Identity +NM_001282902.3:c.1544C>T NP_001269831.1:p.Ser515Phe NC_000008.11:115604397:G:A p.(Ser515Phe) NC_000008.11:115604397:G:A p.(Ser515Phe) NC_000008.11:115604397:G:A Identity +NM_032725.4:c.986A>G NP_116114.1:p.Lys329Arg NC_000011.10:116762602:T:C p.(Lys329Arg) NC_000011.10:116762602:T:C p.(Lys329Arg) NC_000011.10:116762602:T:C Identity +NM_001007122.4:c.1556C>G NP_001007123.1:p.Ser519Cys NC_000015.10:82766028:G:C p.(Ser519Cys) NC_000015.10:82766028:G:C p.(Ser519Cys) NC_000015.10:82766028:G:C Identity +NM_018364.5:c.811C>T NP_060834.2:p.Leu271Phe NC_000001.11:113797928:G:A p.(Leu271Phe) NC_000001.11:113797928:G:A p.(Leu271Phe) NC_000001.11:113797928:G:A Identity +NM_024807.4:c.620G>T NP_079083.2:p.Gly207Val NC_000006.12:41194589:C:A p.(Gly207Val) NC_000006.12:41194589:C:A p.(Gly207Val) NC_000006.12:41194589:C:A Identity +NM_003021.4:c.814A>G NP_003012.1:p.Ser272Gly NC_000019.10:2757705:T:C p.(Ser272Gly) NC_000019.10:2757705:T:C p.(Ser272Gly) NC_000019.10:2757705:T:C Identity +NM_001567.4:c.175T>G NP_001558.3:p.Cys59Gly NC_000011.10:72225158:T:G p.(Cys59Gly) NC_000011.10:72225158:T:G p.(Cys59Gly) NC_000011.10:72225158:T:G Identity +NM_001271946.2:c.3025G>A NP_001258875.2:p.Asp1009Asn NC_000005.10:168696369:C:T p.(Asp1009Asn) NC_000005.10:168696369:C:T p.(Asp1009Asn) NC_000005.10:168696369:C:T Identity +NM_001178145.3:c.1183A>C NP_001171616.2:p.Lys395Gln NC_000003.12:151437314:T:G p.(Lys395Gln) NC_000003.12:151437314:T:G p.(Lys395Gln) NC_000003.12:151437314:T:G Identity +NM_176817.5:c.704G>A NP_789787.5:p.Arg235His NC_000007.14:141972985:C:T p.(Arg235His) NC_000007.14:141972985:C:T p.(Arg235His) NC_000007.14:141972985:C:T Identity +NM_001318804.1:c.1561C>T NP_001305733.1:p.Pro521Ser NC_000011.10:66425080:C:T p.(Pro521Ser) NC_000011.10:66425080:C:T p.(Pro521Ser) NC_000011.10:66425080:C:T Identity +NM_001039706.3:c.1139A>G NP_001034795.2:p.Asp380Gly NC_000007.14:90277317:A:G p.(Asp380Gly) NC_000007.14:90277317:A:G p.(Asp380Gly) NC_000007.14:90277317:A:G Identity +NM_178548.4:c.781C>T NP_848643.2:p.Arg261Cys NC_000001.11:35588547:C:T p.(Arg261Cys) NC_000001.11:35588547:C:T p.(Arg261Cys) NC_000001.11:35588547:C:T Identity +NM_001079858.3:c.3035A>G NP_001073327.1:p.His1012Arg NC_000023.11:18990882:T:C p.(His1012Arg) NC_000023.11:18990882:T:C p.(His1012Arg) NC_000023.11:18990882:T:C Identity +NM_052997.3:c.3861C>G NP_443723.3:p.Asp1287Glu NC_000010.11:37219572:C:G p.(Asp1287Glu) NC_000010.11:37219572:C:G p.(Asp1287Glu) NC_000010.11:37219572:C:G Identity +NM_014203.3:c.836G>A NP_055018.2:p.Arg279Gln NC_000019.10:49798822:G:A p.(Arg279Gln) NC_000019.10:49798822:G:A p.(Arg279Gln) NC_000019.10:49798822:G:A Identity +NM_001012631.4:c.326T>G NP_001012649.1:p.Met109Arg NC_000016.10:3069113:T:G p.(Met109Arg) NC_000016.10:3069113:T:G p.(Met109Arg) NC_000016.10:3069113:T:G Identity +NM_001330653.3:c.3111C>A NP_001317582.1:p.His1037Gln NC_000009.12:35396524:C:A p.(His1037Gln) NC_000009.12:35396524:C:A p.(His1037Gln) NC_000009.12:35396524:C:A Identity +NM_013238.3:c.215C>T NP_037370.2:p.Ala72Val NC_000013.11:43068983:C:T p.(Ala72Val) NC_000013.11:43068983:C:T p.(Ala72Val) NC_000013.11:43068983:C:T Identity +NM_152638.4:c.1165A>T NP_689851.1:p.Ile389Leu NC_000012.12:90953577:T:A p.(Ile389Leu) NC_000012.12:90953577:T:A p.(Ile389Leu) NC_000012.12:90953577:T:A Identity +NM_001393379.1:c.2045G>A NP_001380308.1:p.Arg682His NC_000009.12:39132963:C:T p.(Arg682His) NC_000009.12:39132963:C:T p.(Arg682His) NC_000009.12:39132963:C:T Identity +NM_080627.4:c.2507G>A NP_542194.2:p.Gly836Asp NC_000020.11:36810057:C:T p.(Gly836Asp) NC_000020.11:36810057:C:T p.(Gly836Asp) NC_000020.11:36810057:C:T Identity +NM_001031717.4:c.490G>A NP_001026887.2:p.Gly164Ser NC_000003.12:9940878:G:A p.(Gly164Ser) NC_000003.12:9940878:G:A p.(Gly164Ser) NC_000003.12:9940878:G:A Identity +NM_032188.3:c.569A>G NP_115564.2:p.Asp190Gly NC_000016.10:31127240:A:G p.(Asp190Gly) NC_000016.10:31127240:A:G p.(Asp190Gly) NC_000016.10:31127240:A:G Identity +NM_001018109.3:c.616G>A NP_001018119.1:p.Asp206Asn NC_000023.11:15397525:C:T p.(Asp206Asn) NC_000023.11:15397525:C:T p.(Asp206Asn) NC_000023.11:15397525:C:T Identity +NM_022122.3:c.330C>A NP_071405.2:p.Asn110Lys NC_000011.10:102704547:G:T p.(Asn110Lys) NC_000011.10:102704547:G:T p.(Asn110Lys) NC_000011.10:102704547:G:T Identity +NM_001039503.3:c.1439C>A NP_001034592.1:p.Ala480Glu NC_000016.10:31084321:G:T p.(Ala480Glu) NC_000016.10:31084321:G:T p.(Ala480Glu) NC_000016.10:31084321:G:T Identity +NM_199173.6:c.262G>A NP_954642.1:p.Gly88Ser NC_000001.11:156243120:G:A p.(Gly88Ser) NC_000001.11:156243120:G:A p.(Gly88Ser) NC_000001.11:156243120:G:A Identity +NM_001413458.1:c.331G>A NP_001400387.1:p.Ala111Thr NC_000012.12:107005184:C:T p.(Ala111Thr) NC_000012.12:107005184:C:T p.(Ala111Thr) NC_000012.12:107005184:C:T Identity +NM_007051.3:c.1149A>C NP_008982.1:p.Glu383Asp NC_000001.11:50567195:T:G p.(Glu383Asp) NC_000001.11:50567195:T:G p.(Glu383Asp) NC_000001.11:50567195:T:G Identity +NM_001109662.4:c.12269T>C NP_001103132.4:p.Val4090Ala NC_000012.12:112167886:A:G p.(Val4090Ala) NC_000012.12:112167886:A:G p.(Val4090Ala) NC_000012.12:112167886:A:G Identity +NM_001318060.2:c.857A>C NP_001304989.1:p.Lys286Thr NC_000007.14:87907693:A:C p.(Lys286Thr) NC_000007.14:87907693:A:C p.(Lys286Thr) NC_000007.14:87907693:A:C Identity +NM_019113.4:c.464A>T NP_061986.1:p.Asp155Val NC_000019.10:48758053:A:T p.(Asp155Val) NC_000019.10:48758053:A:T p.(Asp155Val) NC_000019.10:48758053:A:T Identity +NM_022477.4:c.785A>G NP_071922.2:p.Asn262Ser NC_000020.11:36660373:T:C p.(Asn262Ser) NC_000020.11:36660373:T:C p.(Asn262Ser) NC_000020.11:36660373:T:C Identity +NM_013448.3:c.3319C>T NP_038476.2:p.Arg1107Cys NC_000014.9:34765250:G:A p.(Arg1107Cys) NC_000014.9:34765250:G:A p.(Arg1107Cys) NC_000014.9:34765250:G:A Identity +NM_025236.4:c.353T>C NP_079512.3:p.Leu118Pro NC_000006.12:30075232:A:G p.(Leu118Pro) NC_000006.12:30075232:A:G p.(Leu118Pro) NC_000006.12:30075232:A:G Identity +NM_001145412.3:c.592C>T NP_001138884.1:p.Pro198Ser NC_000002.12:177231962:G:A p.(Pro198Ser) NC_000002.12:177231962:G:A p.(Pro198Ser) NC_000002.12:177231962:G:A Identity +NM_001122979.3:c.629G>A NP_001116451.1:p.Ser210Asn NC_000001.11:206962235:C:T p.(Ser210Asn) NC_000001.11:206962235:C:T p.(Ser210Asn) NC_000001.11:206962235:C:T Identity +NM_001347886.2:c.11533C>T NP_001334815.1:p.Arg3845Trp NC_000016.10:20936836:G:A p.(Arg3845Trp) NC_000016.10:20936836:G:A p.(Arg3845Trp) NC_000016.10:20936836:G:A Identity +NM_153358.3:c.802G>A NP_699189.2:p.Gly268Arg NC_000019.10:12628330:G:A p.(Gly268Arg) NC_000019.10:12628330:G:A p.(Gly268Arg) NC_000019.10:12628330:G:A Identity +NM_001290223.2:c.4048G>A NP_001277152.2:p.Val1350Ile NC_000010.11:127404354:G:A p.(Val1350Ile) NC_000010.11:127404354:G:A p.(Val1350Ile) NC_000010.11:127404354:G:A Identity +NM_001017969.3:c.5634C>G NP_001017969.2:p.Ile1878Met NC_000009.12:5920361:G:C p.(Ile1878Met) NC_000009.12:5920361:G:C p.(Ile1878Met) NC_000009.12:5920361:G:C Identity +NM_001115.3:c.346G>T NP_001106.1:p.Gly116Cys NC_000008.11:131039987:C:A p.(Gly116Cys) NC_000008.11:131039987:C:A p.(Gly116Cys) NC_000008.11:131039987:C:A Identity +NM_198075.4:c.692A>G NP_932341.1:p.Glu231Gly NC_000011.10:551197:A:G p.(Glu231Gly) NC_000011.10:551197:A:G p.(Glu231Gly) NC_000011.10:551197:A:G Identity +NM_001042550.2:c.2549A>G NP_001036015.1:p.Tyr850Cys NC_000009.12:104126737:A:G p.(Tyr850Cys) NC_000009.12:104126737:A:G p.(Tyr850Cys) NC_000009.12:104126737:A:G Identity +NM_014037.3:c.2062T>C NP_054756.2:p.Phe688Leu NC_000019.10:49290271:A:G p.(Phe688Leu) NC_000019.10:49290271:A:G p.(Phe688Leu) NC_000019.10:49290271:A:G Identity +NM_001198719.2:c.1395G>C NP_001185648.1:p.Glu465Asp NC_000023.11:16845049:C:G p.(Glu465Asp) NC_000023.11:16845049:C:G p.(Glu465Asp) NC_000023.11:16845049:C:G Identity +NM_001304526.2:c.233C>T NP_001291455.1:p.Pro78Leu NC_000002.12:88028330:G:A p.(Pro78Leu) NC_000002.12:88028330:G:A p.(Pro78Leu) NC_000002.12:88028330:G:A Identity +NM_001004477.1:c.391C>T NP_001004477.1:p.Leu131Phe NC_000001.11:158579508:G:A p.(Leu131Phe) NC_000001.11:158579508:G:A p.(Leu131Phe) NC_000001.11:158579508:G:A Identity +NM_175882.3:c.1668C>A NP_787078.2:p.His556Gln NC_000017.11:45846573:C:A p.(His556Gln) NC_000017.11:45846573:C:A p.(His556Gln) NC_000017.11:45846573:C:A Identity +NM_006961.4:c.439A>T NP_008892.2:p.Ile147Phe NC_000016.10:71476107:T:A p.(Ile147Phe) NC_000016.10:71476107:T:A p.(Ile147Phe) NC_000016.10:71476107:T:A Identity +NM_001317099.2:c.226G>C NP_001304028.1:p.Ala76Pro NC_000001.11:78013064:G:C p.(Ala76Pro) NC_000001.11:78013064:G:C p.(Ala76Pro) NC_000001.11:78013064:G:C Identity +NM_002233.4:c.381T>G NP_002224.1:p.Asp127Glu NC_000011.10:30012297:A:C p.(Asp127Glu) NC_000011.10:30012297:A:C p.(Asp127Glu) NC_000011.10:30012297:A:C Identity +NM_001170629.2:c.236C>G NP_001164100.1:p.Ser79Cys NC_000014.9:21431407:G:C p.(Ser79Cys) NC_000014.9:21431407:G:C p.(Ser79Cys) NC_000014.9:21431407:G:C Identity +NM_001410944.1:c.445C>G NP_001397873.1:p.Leu149Val NC_000001.11:241560747:C:G p.(Leu149Val) NC_000001.11:241560747:C:G p.(Leu149Val) NC_000001.11:241560747:C:G Identity +NM_001008910.4:c.115G>T NP_001008910.1:p.Gly39Trp NC_000002.12:219246684:G:T p.(Gly39Trp) NC_000002.12:219246684:G:T p.(Gly39Trp) NC_000002.12:219246684:G:T Identity +NM_023002.3:c.1126G>A NP_075378.1:p.Gly376Ser NC_000019.10:19257899:C:T p.(Gly376Ser) NC_000019.10:19257899:C:T p.(Gly376Ser) NC_000019.10:19257899:C:T Identity +NM_001113178.3:c.3256G>A NP_001106649.1:p.Ala1086Thr NC_000016.10:69693083:G:A p.(Ala1086Thr) NC_000016.10:69693083:G:A p.(Ala1086Thr) NC_000016.10:69693083:G:A Identity +NM_001170750.2:c.44C>G NP_001164221.1:p.Pro15Arg NC_000023.11:38220748:G:C p.(Pro15Arg) NC_000023.11:38220748:G:C p.(Pro15Arg) NC_000023.11:38220748:G:C Identity +NM_001010915.5:c.70T>A NP_001010915.2:p.Tyr24Asn NC_000009.12:21029366:A:T p.(Tyr24Asn) NC_000009.12:21029366:A:T p.(Tyr24Asn) NC_000009.12:21029366:A:T Identity +NM_002711.4:c.1767A>C NP_002702.2:p.Leu589Phe NC_000007.14:113879324:T:G p.(Leu589Phe) NC_000007.14:113879324:T:G p.(Leu589Phe) NC_000007.14:113879324:T:G Identity +NM_001301085.2:c.670C>T NP_001288014.1:p.Pro224Ser NC_000006.12:163563478:C:T p.(Pro224Ser) NC_000006.12:163563478:C:T p.(Pro224Ser) NC_000006.12:163563478:C:T Identity +NM_178483.3:c.129G>T NP_848578.1:p.Glu43Asp NC_000020.11:18813943:G:T p.(Glu43Asp) NC_000020.11:18813943:G:T p.(Glu43Asp) NC_000020.11:18813943:G:T Identity +NM_022126.4:c.661G>A NP_071409.3:p.Gly221Ser NC_000010.11:124517215:G:A p.(Gly221Ser) NC_000010.11:124517215:G:A p.(Gly221Ser) NC_000010.11:124517215:G:A Identity +NM_015904.4:c.731A>T NP_056988.3:p.Asp244Val NC_000002.12:99361631:A:T p.(Asp244Val) NC_000002.12:99361631:A:T p.(Asp244Val) NC_000002.12:99361631:A:T Identity +NM_001165032.2:c.547C>T NP_001158504.1:p.Arg183Trp NC_000006.12:13977665:C:T p.(Arg183Trp) NC_000006.12:13977665:C:T p.(Arg183Trp) NC_000006.12:13977665:C:T Identity +NM_001005213.2:c.614A>G NP_001005213.1:p.Asn205Ser NC_000011.10:56701000:A:G p.(Asn205Ser) NC_000011.10:56701000:A:G p.(Asn205Ser) NC_000011.10:56701000:A:G Identity +NM_001013031.3:c.1319T>C NP_001013049.1:p.Ile440Thr NC_000010.11:106699307:A:G p.(Ile440Thr) NC_000010.11:106699307:A:G p.(Ile440Thr) NC_000010.11:106699307:A:G Identity +NM_001411052.1:c.3184C>T NP_001397981.1:p.Arg1062Trp NC_000014.9:74811692:C:T p.(Arg1062Trp) NC_000014.9:74811692:C:T p.(Arg1062Trp) NC_000014.9:74811692:C:T Identity +NM_001099335.2:c.135G>C NP_001092805.1:p.Glu45Asp NC_000008.11:22228222:C:G p.(Glu45Asp) NC_000008.11:22228222:C:G p.(Glu45Asp) NC_000008.11:22228222:C:G Identity +NM_032135.4:c.2064G>T NP_115511.3:p.Glu688Asp NC_000014.9:44504923:C:A p.(Glu688Asp) NC_000014.9:44504923:C:A p.(Glu688Asp) NC_000014.9:44504923:C:A Identity +NM_020879.3:c.676G>A NP_065930.2:p.Val226Ile NC_000007.14:77256500:G:A p.(Val226Ile) NC_000007.14:77256500:G:A p.(Val226Ile) NC_000007.14:77256500:G:A Identity +NM_001256796.2:c.443G>A NP_001243725.1:p.Cys148Tyr NC_000012.12:121222133:G:A p.(Cys148Tyr) NC_000012.12:121222133:G:A p.(Cys148Tyr) NC_000012.12:121222133:G:A Identity +NM_001011720.2:c.290A>G NP_001011720.1:p.Lys97Arg NC_000008.11:70706949:A:G p.(Lys97Arg) NC_000008.11:70706949:A:G p.(Lys97Arg) NC_000008.11:70706949:A:G Identity +NM_001009811.4:c.669C>A NP_001009811.2:p.Ser223Arg NC_000017.11:81202358:G:T p.(Ser223Arg) NC_000017.11:81202358:G:T p.(Ser223Arg) NC_000017.11:81202358:G:T Identity +NM_001006658.3:c.1352T>A NP_001006659.1:p.Ile451Lys NC_000001.11:207470865:T:A p.(Ile451Lys) NC_000001.11:207470865:T:A p.(Ile451Lys) NC_000001.11:207470865:T:A Identity +NM_001303427.2:c.1457A>G NP_001290356.1:p.His486Arg NC_000001.11:46043739:T:C p.(His486Arg) NC_000001.11:46043739:T:C p.(His486Arg) NC_000001.11:46043739:T:C Identity +NM_001242352.2:c.535G>A NP_001229281.1:p.Glu179Lys NC_000009.12:128471436:G:A p.(Glu179Lys) NC_000009.12:128471436:G:A p.(Glu179Lys) NC_000009.12:128471436:G:A Identity +NM_001002800.3:c.1282T>C NP_001002800.1:p.Phe428Leu NC_000003.12:160416259:T:C p.(Phe428Leu) NC_000003.12:160416259:T:C p.(Phe428Leu) NC_000003.12:160416259:T:C Identity +NM_001199577.2:c.544G>A NP_001186506.1:p.Gly182Arg NC_000007.14:150737645:G:A p.(Gly182Arg) NC_000007.14:150737645:G:A p.(Gly182Arg) NC_000007.14:150737645:G:A Identity +NM_001199160.2:c.2392A>T NP_001186089.1:p.Ile798Phe NC_000003.12:49114178:T:A p.(Ile798Phe) NC_000003.12:49114178:T:A p.(Ile798Phe) NC_000003.12:49114178:T:A Identity +NM_001130841.2:c.847G>A NP_001124313.1:p.Ala283Thr NC_000001.11:100285235:G:A p.(Ala283Thr) NC_000001.11:100285235:G:A p.(Ala283Thr) NC_000001.11:100285235:G:A Identity +NM_014244.5:c.584A>G NP_055059.2:p.Glu195Gly NC_000005.10:179273014:T:C p.(Glu195Gly) NC_000005.10:179273014:T:C p.(Glu195Gly) NC_000005.10:179273014:T:C Identity +NM_001395489.1:c.160G>A NP_001382418.1:p.Ala54Thr NC_000019.10:49061837:C:T p.(Ala54Thr) NC_000019.10:49061837:C:T p.(Ala54Thr) NC_000019.10:49061837:C:T Identity +NM_014825.3:c.1991T>C NP_055640.2:p.Ile664Thr NC_000021.9:32355563:A:G p.(Ile664Thr) NC_000021.9:32355563:A:G p.(Ile664Thr) NC_000021.9:32355563:A:G Identity +NM_001166159.2:c.410A>G NP_001159631.1:p.Asp137Gly NC_000001.11:161209208:A:G p.(Asp137Gly) NC_000001.11:161209208:A:G p.(Asp137Gly) NC_000001.11:161209208:A:G Identity +NM_001142864.4:c.5704G>A NP_001136336.2:p.Glu1902Lys NC_000016.10:88720712:C:T p.(Glu1902Lys) NC_000016.10:88720712:C:T p.(Glu1902Lys) NC_000016.10:88720712:C:T Identity +NM_001005275.2:c.364A>T NP_001005275.2:p.Met122Leu NC_000011.10:55368336:A:T p.(Met122Leu) NC_000011.10:55368336:A:T p.(Met122Leu) NC_000011.10:55368336:A:T Identity +NM_001013406.2:c.1852G>C NP_001013424.1:p.Gly618Arg NC_000007.14:92213223:C:G p.(Gly618Arg) NC_000007.14:92213223:C:G p.(Gly618Arg) NC_000007.14:92213223:C:G Identity +NM_017554.3:c.3599C>T NP_060024.2:p.Pro1200Leu NC_000003.12:122708247:C:T p.(Pro1200Leu) NC_000003.12:122708247:C:T p.(Pro1200Leu) NC_000003.12:122708247:C:T Identity +NM_001080976.3:c.179C>G NP_001074445.1:p.Ala60Gly NC_000006.12:116399428:C:G p.(Ala60Gly) NC_000006.12:116399428:C:G p.(Ala60Gly) NC_000006.12:116399428:C:G Identity +NM_001704.3:c.2543A>G NP_001695.2:p.His848Arg NC_000006.12:69233351:A:G p.(His848Arg) NC_000006.12:69233351:A:G p.(His848Arg) NC_000006.12:69233351:A:G Identity +NM_001278506.2:c.719G>A NP_001265435.1:p.Gly240Asp NC_000016.10:10761790:G:A p.(Gly240Asp) NC_000016.10:10761790:G:A p.(Gly240Asp) NC_000016.10:10761790:G:A Identity +NM_001256468.2:c.2170A>G NP_001243397.1:p.Lys724Glu NC_000010.11:75020670:A:G p.(Lys724Glu) NC_000010.11:75020670:A:G p.(Lys724Glu) NC_000010.11:75020670:A:G Identity +NM_001033083.2:c.369G>C NP_001028255.1:p.Leu123Phe NC_000010.11:68292152:C:G p.(Leu123Phe) NC_000010.11:68292152:C:G p.(Leu123Phe) NC_000010.11:68292152:C:G Identity +NM_001136191.3:c.395G>A NP_001129663.1:p.Arg132His NC_000019.10:11193684:C:T p.(Arg132His) NC_000019.10:11193684:C:T p.(Arg132His) NC_000019.10:11193684:C:T Identity +NM_025248.3:c.1582C>T NP_079524.2:p.Arg528Cys NC_000017.11:38561580:G:A p.(Arg528Cys) NC_000017.11:38561580:G:A p.(Arg528Cys) NC_000017.11:38561580:G:A Identity +NM_001301010.3:c.164G>A NP_001287939.2:p.Gly55Asp NC_000011.10:107556968:C:T p.(Gly55Asp) NC_000011.10:107556968:C:T p.(Gly55Asp) NC_000011.10:107556968:C:T Identity +NM_001126328.3:c.37C>G NP_001119800.1:p.Leu13Val NC_000004.12:53573965:G:C p.(Leu13Val) NC_000004.12:53573965:G:C p.(Leu13Val) NC_000004.12:53573965:G:C Identity +NM_000764.3:c.1420T>C NP_000755.2:p.Ser474Pro NC_000019.10:40875757:A:G p.(Ser474Pro) NC_000019.10:40875757:A:G p.(Ser474Pro) NC_000019.10:40875757:A:G Identity +NM_001304351.2:c.1009A>T NP_001291280.1:p.Met337Leu NC_000008.11:24330020:A:T p.(Met337Leu) NC_000008.11:24330020:A:T p.(Met337Leu) NC_000008.11:24330020:A:T Identity +NM_001375442.1:c.254T>G NP_001362371.1:p.Leu85Trp NC_000002.12:48346467:T:G p.(Leu85Trp) NC_000002.12:48346467:T:G p.(Leu85Trp) NC_000002.12:48346467:T:G Identity +NM_001384611.1:c.1933C>T NP_001371540.1:p.Arg645Cys NC_000019.10:4685723:G:A p.(Arg645Cys) NC_000019.10:4685723:G:A p.(Arg645Cys) NC_000019.10:4685723:G:A Identity +NM_001371931.2:c.490A>G NP_001358860.1:p.Thr164Ala NC_000007.14:100359371:A:G p.(Thr164Ala) NC_000007.14:100359371:A:G p.(Thr164Ala) NC_000007.14:100359371:A:G Identity +NM_001350929.2:c.9254A>C NP_001337858.1:p.Asp3085Ala NC_000014.9:104945896:T:G p.(Asp3085Ala) NC_000014.9:104945896:T:G p.(Asp3085Ala) NC_000014.9:104945896:T:G Identity +NM_001079846.1:c.1603A>G NP_001073315.1:p.Thr535Ala NC_000016.10:3780837:T:C p.(Thr535Ala) NC_000016.10:3780837:T:C p.(Thr535Ala) NC_000016.10:3780837:T:C Identity +NM_001160213.2:c.560T>C NP_001153685.1:p.Leu187Pro NC_000016.10:72136742:A:G p.(Leu187Pro) NC_000016.10:72136742:A:G p.(Leu187Pro) NC_000016.10:72136742:A:G Identity +NM_001171186.1:c.79G>T NP_001164657.1:p.Ala27Ser NC_000023.11:8800092:C:A p.(Ala27Ser) NC_000023.11:8800092:C:A p.(Ala27Ser) NC_000023.11:8800092:C:A Identity +NM_018963.5:c.1315A>G NP_061836.2:p.Ser439Gly NC_000021.9:39270362:T:C p.(Ser439Gly) NC_000021.9:39270362:T:C p.(Ser439Gly) NC_000021.9:39270362:T:C Identity +NM_000581.4:c.125T>C NP_000572.2:p.Ile42Thr NC_000003.12:49358153:A:G p.(Ile42Thr) NC_000003.12:49358153:A:G p.? NC_000003.12:49358153:A:G Identity +NM_001080830.5:c.694C>A NP_001074299.2:p.Leu232Ile NC_000001.11:12775948:C:A p.(Leu232Ile) NC_000001.11:12775948:C:A p.(Leu232Ile) NC_000001.11:12775948:C:A Identity +NM_001136156.2:c.2023G>A NP_001129628.1:p.Glu675Lys NC_000019.10:32354852:G:A p.(Glu675Lys) NC_000019.10:32354852:G:A p.(Glu675Lys) NC_000019.10:32354852:G:A Identity +NM_001128918.3:c.1715G>A NP_001122390.2:p.Arg572Gln NC_000014.9:103491904:G:A p.(Arg572Gln) NC_000014.9:103491904:G:A p.(Arg572Gln) NC_000014.9:103491904:G:A Identity +NM_015585.4:c.2813G>A NP_056400.3:p.Cys938Tyr NC_000020.11:20288624:G:A p.(Cys938Tyr) NC_000020.11:20288624:G:A p.(Cys938Tyr) NC_000020.11:20288624:G:A Identity +NM_001145451.5:c.1169C>A NP_001138923.2:p.Thr390Lys NC_000002.12:38954403:C:A p.(Thr390Lys) NC_000002.12:38954403:C:A p.(Thr390Lys) NC_000002.12:38954403:C:A Identity +NM_003970.4:c.2353A>T NP_003961.3:p.Ile785Phe NC_000008.11:2098895:A:T p.(Ile785Phe) NC_000008.11:2098895:A:T p.(Ile785Phe) NC_000008.11:2098895:A:T Identity +NM_182559.3:c.742C>T NP_872365.2:p.Pro248Ser NC_000012.12:50885334:C:T p.(Pro248Ser) NC_000012.12:50885334:C:T p.(Pro248Ser) NC_000012.12:50885334:C:T Identity +NM_006562.5:c.599G>A NP_006553.2:p.Ser200Asn NC_000010.11:101227516:C:T p.(Ser200Asn) NC_000010.11:101227516:C:T p.(Ser200Asn) NC_000010.11:101227516:C:T Identity +NM_152424.4:c.2681G>A NP_689637.3:p.Arg894His NC_000023.11:64190605:C:T p.(Arg894His) NC_000023.11:64190605:C:T p.(Arg894His) NC_000023.11:64190605:C:T Identity +NM_001100112.2:c.4484A>T NP_001093582.1:p.Glu1495Val NC_000017.11:10525503:T:A p.(Glu1495Val) NC_000017.11:10525503:T:A p.(Glu1495Val) NC_000017.11:10525503:T:A Identity +NM_007187.5:c.178A>G NP_009118.1:p.Lys60Glu NC_000013.11:41065202:A:G p.(Lys60Glu) NC_000013.11:41065202:A:G p.(Lys60Glu) NC_000013.11:41065202:A:G Identity +NM_145173.4:c.262G>A NP_660156.1:p.Val88Ile NC_000019.10:2717544:C:T p.(Val88Ile) NC_000019.10:2717544:C:T p.(Val88Ile) NC_000019.10:2717544:C:T Identity +NM_001256394.2:c.3206T>C NP_001243323.1:p.Met1069Thr NC_000009.12:92298299:A:G p.(Met1069Thr) NC_000009.12:92298299:A:G p.(Met1069Thr) NC_000009.12:92298299:A:G Identity +NM_001242792.2:c.145A>G NP_001229721.1:p.Thr49Ala NC_000006.12:83665566:T:C p.(Thr49Ala) NC_000006.12:83665566:T:C p.(Thr49Ala) NC_000006.12:83665566:T:C Identity +NM_018475.5:c.74T>C NP_060945.2:p.Leu25Pro NC_000004.12:55396262:T:C p.(Leu25Pro) NC_000004.12:55396262:T:C p.(Leu25Pro) NC_000004.12:55396262:T:C Identity +NM_025184.4:c.268C>T NP_079460.2:p.Leu90Phe NC_000023.11:44272799:G:A p.(Leu90Phe) NC_000023.11:44272799:G:A p.(Leu90Phe) NC_000023.11:44272799:G:A Identity +NM_001005493.2:c.107G>C NP_001005493.1:p.Ser36Thr NC_000012.12:55295125:C:G p.(Ser36Thr) NC_000012.12:55295125:C:G p.(Ser36Thr) NC_000012.12:55295125:C:G Identity +NM_001281448.2:c.306G>T NP_001268377.1:p.Arg102Ser NC_000020.11:45311636:G:T p.(Arg102Ser) NC_000020.11:45311636:G:T p.(Arg102Ser) NC_000020.11:45311636:G:T Identity +NM_001330297.2:c.599T>A NP_001317226.1:p.Ile200Lys NC_000015.10:51400441:T:A p.(Ile200Lys) NC_000015.10:51400441:T:A p.(Ile200Lys) NC_000015.10:51400441:T:A Identity +NM_014757.5:c.2866C>T NP_055572.1:p.His956Tyr NC_000005.10:179774691:C:T p.(His956Tyr) NC_000005.10:179774691:C:T p.(His956Tyr) NC_000005.10:179774691:C:T Identity +NM_001271851.2:c.160C>T NP_001258780.1:p.Pro54Ser NC_000001.11:38859486:G:A p.(Pro54Ser) NC_000001.11:38859486:G:A p.(Pro54Ser) NC_000001.11:38859486:G:A Identity +NM_015113.4:c.5113C>A NP_055928.3:p.Leu1705Ile NC_000017.11:4058045:G:T p.(Leu1705Ile) NC_000017.11:4058045:G:T p.(Leu1705Ile) NC_000017.11:4058045:G:T Identity +NM_002817.4:c.1055G>A NP_002808.3:p.Arg352His NC_000011.10:252523:G:A p.(Arg352His) NC_000011.10:252523:G:A p.(Arg352His) NC_000011.10:252523:G:A Identity +NM_001126128.2:c.297del NP_001119600.1:p.Phe99fs NC_000003.12:71772816:AAAAAA:AAAAA p.(Phe99LeufsTer28) NC_000003.12:71772816:AAAAAA:AAAAA p.(Phe99LeufsTer28) NC_000003.12:71772816:A: Analogous +NM_001159860.2:c.1670C>A NP_001153332.1:p.Thr557Lys NC_000019.10:56424327:C:A p.(Thr557Lys) NC_000019.10:56424327:C:A p.(Thr557Lys) NC_000019.10:56424327:C:A Identity +NM_001170714.3:c.1340A>T NP_001164185.1:p.Asp447Val NC_000016.10:75235696:T:A p.(Asp447Val) NC_000016.10:75235696:T:A p.(Asp447Val) NC_000016.10:75235696:T:A Identity +NM_001145206.2:c.46G>A NP_001138678.1:p.Val16Met NC_000022.11:25028044:G:A p.(Val16Met) NC_000022.11:25028044:G:A p.(Val16Met) NC_000022.11:25028044:G:A Identity +NM_001371533.1:c.875C>T NP_001358462.1:p.Pro292Leu NC_000014.9:65721813:C:T p.(Pro292Leu) NC_000014.9:65721813:C:T p.(Pro292Leu) NC_000014.9:65721813:C:T Identity +NM_001172698.2:c.2651A>G NP_001166169.1:p.Glu884Gly NC_000005.10:149842328:A:G p.(Glu884Gly) NC_000005.10:149842328:A:G p.(Glu884Gly) NC_000005.10:149842328:A:G Identity +NM_004621.6:c.1310G>T NP_004612.2:p.Arg437Leu NC_000011.10:101483148:C:A p.(Arg437Leu) NC_000011.10:101483148:C:A p.(Arg437Leu) NC_000011.10:101483148:C:A Identity +NM_003849.4:c.602G>C NP_003840.2:p.Arg201Thr NC_000002.12:84433422:C:G p.(Arg201Thr) NC_000002.12:84433422:C:G p.(Arg201Thr) NC_000002.12:84433422:C:G Identity +NM_153809.2:c.4546C>G NP_722516.1:p.Pro1516Ala NC_000009.12:32631033:G:C p.(Pro1516Ala) NC_000009.12:32631033:G:C p.(Pro1516Ala) NC_000009.12:32631033:G:C Identity +NM_001278722.2:c.131C>G NP_001265651.2:p.Thr44Ser NC_000006.12:137011398:G:C p.(Thr44Ser) NC_000006.12:137011398:G:C p.(Thr44Ser) NC_000006.12:137011398:G:C Identity +NM_001307976.2:c.1799T>A NP_001294905.1:p.Met600Lys NC_000002.12:210044060:A:T p.(Met600Lys) NC_000002.12:210044060:A:T p.(Met600Lys) NC_000002.12:210044060:A:T Identity +NM_001158.5:c.2016C>A NP_001149.2:p.Phe672Leu NC_000017.11:42850173:C:A p.(Phe672Leu) NC_000017.11:42850173:C:A p.(Phe672Leu) NC_000017.11:42850173:C:A Identity +NM_001005245.1:c.722G>A NP_001005245.1:p.Gly241Asp NC_000011.10:56542535:C:T p.(Gly241Asp) NC_000011.10:56542535:C:T p.(Gly241Asp) NC_000011.10:56542535:C:T Identity +NM_001317037.2:c.1042G>A NP_001303966.1:p.Glu348Lys NC_000009.12:127724327:G:A p.(Glu348Lys) NC_000009.12:127724327:G:A p.(Glu348Lys) NC_000009.12:127724327:G:A Identity +NM_001161407.2:c.98A>C NP_001154879.1:p.Asn33Thr NC_000013.11:79481300:A:C p.(Asn33Thr) NC_000013.11:79481300:A:C p.(Asn33Thr) NC_000013.11:79481300:A:C Identity +NM_152729.3:c.488T>C NP_689942.2:p.Val163Ala NC_000006.12:116117903:T:C p.(Val163Ala) NC_000006.12:116117903:T:C p.(Val163Ala) NC_000006.12:116117903:T:C Identity +NM_001377321.1:c.2458A>G NP_001364250.1:p.Lys820Glu NC_000017.11:69185515:T:C p.(Lys820Glu) NC_000017.11:69185515:T:C p.(Lys820Glu) NC_000017.11:69185515:T:C Identity +NM_001293306.2:c.5375T>C NP_001280235.2:p.Val1792Ala NC_000003.12:38697841:A:G p.(Val1792Ala) NC_000003.12:38697841:A:G p.(Val1792Ala) NC_000003.12:38697841:A:G Identity +NM_000083.3:c.1129C>G NP_000074.3:p.Arg377Gly NC_000007.14:143331614:C:G p.(Arg377Gly) NC_000007.14:143331614:C:G p.(Arg377Gly) NC_000007.14:143331614:C:G Identity +NM_001305033.2:c.1232A>G NP_001291962.1:p.Gln411Arg NC_000010.11:42593738:T:C p.(Gln411Arg) NC_000010.11:42593738:T:C p.(Gln411Arg) NC_000010.11:42593738:T:C Identity +NM_001199799.2:c.802C>T NP_001186728.1:p.Pro268Ser NC_000003.12:121993946:G:A p.(Pro268Ser) NC_000003.12:121993946:G:A p.(Pro268Ser) NC_000003.12:121993946:G:A Identity +NM_005468.3:c.1613C>T NP_005459.2:p.Ala538Val NC_000011.10:65046512:G:A p.(Ala538Val) NC_000011.10:65046512:G:A p.(Ala538Val) NC_000011.10:65046512:G:A Identity +NM_017525.3:c.1732C>T NP_059995.2:p.Arg578Cys NC_000011.10:64835787:G:A p.(Arg578Cys) NC_000011.10:64835787:G:A p.(Arg578Cys) NC_000011.10:64835787:G:A Identity +NM_014258.4:c.1065T>G NP_055073.2:p.Ile355Met NC_000020.11:59901778:A:C p.(Ile355Met) NC_000020.11:59901778:A:C p.(Ile355Met) NC_000020.11:59901778:A:C Identity +NM_001283050.2:c.612G>C NP_001269979.1:p.Arg204Ser NC_000021.9:44235356:C:G p.(Arg204Ser) NC_000021.9:44235356:C:G p.(Arg204Ser) NC_000021.9:44235356:C:G Identity +NM_001198838.2:c.2408C>T NP_001185767.1:p.Pro803Leu NC_000020.11:35652914:G:A p.(Pro803Leu) NC_000020.11:35652914:G:A p.(Pro803Leu) NC_000020.11:35652914:G:A Identity +NM_001163022.3:c.168T>A NP_001156494.1:p.Phe56Leu NC_000020.11:21161941:T:A p.(Phe56Leu) NC_000020.11:21161941:T:A p.(Phe56Leu) NC_000020.11:21161941:T:A Identity +NM_003890.3:c.13771T>C NP_003881.2:p.Phe4591Leu NC_000019.10:39875822:A:G ERR:Validation error: Coordinate out of bounds: index 13786 is beyond transcript length 12834 ERR:Validation error: Transcript position out of exon bounds ERR:c.13771 coordinate is out of bounds ERR:c.13771 coordinate is out of bounds Unknown +NM_032451.2:c.448G>C NP_115827.1:p.Gly150Arg NC_000016.10:89850462:G:C p.(Gly150Arg) NC_000016.10:89850462:G:C p.(Gly150Arg) NC_000016.10:89850462:G:C Identity +NM_033256.3:c.272G>A NP_150281.1:p.Arg91Gln NC_000019.10:38252903:C:T p.(Arg91Gln) NC_000019.10:38252903:C:T p.(Arg91Gln) NC_000019.10:38252903:C:T Identity +NM_021250.4:c.217G>A NP_067073.1:p.Ala73Thr NC_000019.10:54312055:C:T p.(Ala73Thr) NC_000019.10:54312055:C:T p.(Ala73Thr) NC_000019.10:54312055:C:T Identity +NM_033103.5:c.877G>A NP_149094.3:p.Glu293Lys NC_000019.10:33002883:C:T p.(Glu293Lys) NC_000019.10:33002883:C:T p.(Glu293Lys) NC_000019.10:33002883:C:T Identity +NM_003378.4:c.790C>T NP_003369.2:p.Pro264Ser NC_000007.14:101164053:G:A p.(Pro264Ser) NC_000007.14:101164053:G:A p.(Pro264Ser) NC_000007.14:101164053:G:A Identity +NM_001184993.2:c.4316A>T NP_001171922.1:p.His1439Leu NC_000013.11:24870619:A:T p.(His1439Leu) NC_000013.11:24870619:A:T p.(His1439Leu) NC_000013.11:24870619:A:T Identity +NM_000246.4:c.1880T>C NP_000237.2:p.Leu627Pro NC_000016.10:10907371:T:C p.(Leu627Pro) NC_000016.10:10907371:T:C p.(Leu627Pro) NC_000016.10:10907371:T:C Identity +NM_014909.5:c.914T>C NP_055724.1:p.Ile305Thr NC_000014.9:76777959:T:C p.(Ile305Thr) NC_000014.9:76777959:T:C p.(Ile305Thr) NC_000014.9:76777959:T:C Identity +NM_001010870.3:c.5499T>A NP_001010870.1:p.Asn1833Lys NC_000006.12:46693626:T:A p.(Asn1833Lys) NC_000006.12:46693626:T:A p.(Asn1833Lys) NC_000006.12:46693626:T:A Identity +NM_001201457.2:c.2431G>T NP_001188386.1:p.Gly811Cys NC_000017.11:58598931:C:A p.(Gly811Cys) NC_000017.11:58598931:C:A p.(Gly811Cys) NC_000017.11:58598931:C:A Identity +NM_001411031.1:c.3148G>T NP_001397960.1:p.Val1050Leu NC_000009.12:135818593:C:A p.(Val1050Leu) NC_000009.12:135818593:C:A p.(Val1050Leu) NC_000009.12:135818593:C:A Identity +NM_001330221.2:c.313A>G NP_001317150.1:p.Met105Val NC_000014.9:100097618:A:G p.(Met105Val) NC_000014.9:100097618:A:G p.(Met105Val) NC_000014.9:100097618:A:G Identity +NM_015375.3:c.76G>C NP_056190.1:p.Glu26Gln NC_000001.11:205211459:C:G p.(Glu26Gln) NC_000001.11:205211459:C:G p.(Glu26Gln) NC_000001.11:205211459:C:G Identity +NM_001330183.2:c.580C>T NP_001317112.1:p.His194Tyr NC_000017.11:35259269:C:T p.(His194Tyr) NC_000017.11:35259269:C:T p.(His194Tyr) NC_000017.11:35259269:C:T Identity +NM_015596.3:c.316T>G NP_056411.1:p.Ser106Ala NC_000019.10:51060016:A:C p.(Ser106Ala) NC_000019.10:51060016:A:C p.(Ser106Ala) NC_000019.10:51060016:A:C Identity +NM_001324281.3:c.1253G>C NP_001311210.1:p.Arg418Thr NC_000007.14:2937124:C:G p.(Arg418Thr) NC_000007.14:2937124:C:G p.(Arg418Thr) NC_000007.14:2937124:C:G Identity +NM_005990.4:c.1603G>T NP_005981.3:p.Val535Leu NC_000005.10:172090313:C:A p.(Val535Leu) NC_000005.10:172090313:C:A p.(Val535Leu) NC_000005.10:172090313:C:A Identity +NM_000243.3:c.323G>C NP_000234.1:p.Ser108Thr NC_000016.10:3254744:C:G p.(Ser108Thr) NC_000016.10:3254744:C:G p.(Ser108Thr) NC_000016.10:3254744:C:G Identity +NM_002620.4:c.242A>T NP_002611.1:p.Asn81Ile NC_000004.12:73854048:A:T p.(Asn81Ile) NC_000004.12:73854048:A:T p.(Asn81Ile) NC_000004.12:73854048:A:T Identity +NM_175872.5:c.1861C>A NP_787068.3:p.Leu621Ile NC_000019.10:34957993:G:T p.(Leu621Ile) NC_000019.10:34957993:G:T p.(Leu621Ile) NC_000019.10:34957993:G:T Identity +NM_001105203.2:c.1674C>G NP_001098673.1:p.Ser558Arg NC_000001.11:155325455:C:G p.(Ser558Arg) NC_000001.11:155325455:C:G p.(Ser558Arg) NC_000001.11:155325455:C:G Identity +NM_000789.4:c.2236G>A NP_000780.1:p.Asp746Asn NC_000017.11:63487003:G:A p.(Asp746Asn) NC_000017.11:63487003:G:A p.(Asp746Asn) NC_000017.11:63487003:G:A Identity +NM_001146094.2:c.1204G>A NP_001139566.1:p.Gly402Arg NC_000015.10:30905866:G:A p.(Gly402Arg) NC_000015.10:30905866:G:A p.(Gly402Arg) NC_000015.10:30905866:G:A Identity +NM_001099289.3:c.523G>A NP_001092759.1:p.Ala175Thr NC_000002.12:109130062:G:A p.(Ala175Thr) NC_000002.12:109130062:G:A p.(Ala175Thr) NC_000002.12:109130062:G:A Identity +NM_001001894.3:c.2179A>G NP_001001894.1:p.Ile727Val NC_000021.9:37150137:A:G p.(Ile727Val) NC_000021.9:37150137:A:G p.(Ile727Val) NC_000021.9:37150137:A:G Identity +NM_001010969.4:c.1183A>G NP_001010969.2:p.Thr395Ala NC_000001.11:47144930:A:G p.(Thr395Ala) NC_000001.11:47144930:A:G p.(Thr395Ala) NC_000001.11:47144930:A:G Identity +NM_004103.4:c.2400A>C NP_004094.3:p.Glu800Asp NC_000008.11:27450807:A:C p.(Glu800Asp) NC_000008.11:27450807:A:C p.(Glu800Asp) NC_000008.11:27450807:A:C Identity +NM_001329630.2:c.19G>A NP_001316559.1:p.Gly7Arg NC_000011.10:17014382:C:T p.(Gly7Arg) NC_000011.10:17014382:C:T p.(Gly7Arg) NC_000011.10:17014382:C:T Identity +NM_014398.4:c.646C>G NP_055213.2:p.Leu216Val NC_000003.12:183153794:G:C p.(Leu216Val) NC_000003.12:183153794:G:C p.(Leu216Val) NC_000003.12:183153794:G:C Identity +NM_152610.3:c.331G>A NP_689823.2:p.Gly111Arg NC_000001.11:223393805:G:A p.(Gly111Arg) NC_000001.11:223393805:G:A p.(Gly111Arg) NC_000001.11:223393805:G:A Identity +NM_001197327.2:c.412C>T NP_001184256.1:p.Leu138Phe NC_000020.11:3745046:C:T p.(Leu138Phe) NC_000020.11:3745046:C:T p.(Leu138Phe) NC_000020.11:3745046:C:T Identity +NM_000084.5:c.384C>G NP_000075.1:p.Ser128Arg NC_000023.11:50075972:C:G p.(Ser128Arg) NC_000023.11:50075972:C:G p.(Ser128Arg) NC_000023.11:50075972:C:G Identity +NM_001039920.3:c.139C>T NP_001035009.1:p.Pro47Ser NC_000012.12:6679110:G:A p.(Pro47Ser) NC_000012.12:6679110:G:A p.(Pro47Ser) NC_000012.12:6679110:G:A Identity +NM_000053.4:c.3623C>G NP_000044.2:p.Thr1208Arg NC_000013.11:51939126:G:C p.(Thr1208Arg) NC_000013.11:51939126:G:C p.(Thr1208Arg) NC_000013.11:51939126:G:C Identity +NM_005876.5:c.3784A>G NP_005867.3:p.Ile1262Val NC_000002.12:219471935:A:G p.(Ile1262Val) NC_000002.12:219471935:A:G p.(Ile1262Val) NC_000002.12:219471935:A:G Identity +NM_017545.3:c.295C>G NP_060015.1:p.Gln99Glu NC_000020.11:7914413:G:C p.(Gln99Glu) NC_000020.11:7914413:G:C p.(Gln99Glu) NC_000020.11:7914413:G:C Identity +NM_001352260.2:c.2734G>C NP_001339189.1:p.Val912Leu NC_000019.10:30548352:G:C p.(Val912Leu) NC_000019.10:30548352:G:C p.(Val912Leu) NC_000019.10:30548352:G:C Identity +NM_024045.2:c.2122G>A NP_076950.1:p.Gly708Arg NC_000010.11:68946537:G:A p.(Gly708Arg) NC_000010.11:68946537:G:A p.(Gly708Arg) NC_000010.11:68946537:G:A Identity +NM_001135776.2:c.688C>A NP_001129248.1:p.Pro230Thr NC_000009.12:126833196:C:A p.(Pro230Thr) NC_000009.12:126833196:C:A p.(Pro230Thr) NC_000009.12:126833196:C:A Identity +NM_001193509.2:c.2323A>G NP_001180438.1:p.Met775Val NC_000002.12:32820878:A:G p.(Met775Val) NC_000002.12:32820878:A:G p.(Met775Val) NC_000002.12:32820878:A:G Identity +NM_198834.3:c.5039G>A NP_942131.1:p.Gly1680Asp NC_000017.11:37179299:C:T p.(Gly1680Asp) NC_000017.11:37179299:C:T p.(Gly1680Asp) NC_000017.11:37179299:C:T Identity +NM_172140.2:c.455G>C NP_742152.1:p.Arg152Pro NC_000019.10:39298273:G:C p.(Arg152Pro) NC_000019.10:39298273:G:C p.(Arg152Pro) NC_000019.10:39298273:G:C Identity +NM_018898.5:c.1649A>G NP_061721.2:p.Asp550Gly NC_000005.10:140928540:A:G p.(Asp550Gly) NC_000005.10:140928540:A:G p.(Asp550Gly) NC_000005.10:140928540:A:G Identity +NM_002718.5:c.1630A>T NP_002709.2:p.Ser544Cys NC_000003.12:136003127:A:T p.(Ser544Cys) NC_000003.12:136003127:A:T p.(Ser544Cys) NC_000003.12:136003127:A:T Identity +NM_001160708.2:c.2528A>G NP_001154180.1:p.His843Arg NC_000012.12:106463608:A:G p.(His843Arg) NC_000012.12:106463608:A:G p.(His843Arg) NC_000012.12:106463608:A:G Identity +NM_001410774.1:c.517G>A NP_001397703.1:p.Val173Ile NC_000003.12:53876008:C:T p.(Val173Ile) NC_000003.12:53876008:C:T p.(Val173Ile) NC_000003.12:53876008:C:T Identity +NM_005995.5:c.540C>G NP_005986.2:p.Asp180Glu NC_000011.10:67634197:G:C p.(Asp180Glu) NC_000011.10:67634197:G:C p.(Asp180Glu) NC_000011.10:67634197:G:C Identity +NM_001411031.1:c.3544G>A NP_001397960.1:p.Glu1182Lys NC_000009.12:135815898:C:T p.(Glu1182Lys) NC_000009.12:135815898:C:T p.(Glu1182Lys) NC_000009.12:135815898:C:T Identity +NM_173699.4:c.727G>T NP_775970.2:p.Val243Phe NC_000023.11:26139711:G:T p.(Val243Phe) NC_000023.11:26139711:G:T p.(Val243Phe) NC_000023.11:26139711:G:T Identity +NM_018930.4:c.514A>C NP_061753.1:p.Ile172Leu NC_000005.10:141193065:A:C p.(Ile172Leu) NC_000005.10:141193065:A:C p.(Ile172Leu) NC_000005.10:141193065:A:C Identity +NM_152325.3:c.389C>T NP_689538.1:p.Ala130Val NC_000013.11:30956948:C:T p.(Ala130Val) NC_000013.11:30956948:C:T p.(Ala130Val) NC_000013.11:30956948:C:T Identity +NM_001367447.1:c.155C>G NP_001354376.1:p.Thr52Arg NC_000010.11:24670305:G:C p.(Thr52Arg) NC_000010.11:24670305:G:C p.(Thr52Arg) NC_000010.11:24670305:G:C Identity +NM_006289.4:c.5467G>A NP_006280.3:p.Val1823Ile NC_000009.12:35706005:C:T p.(Val1823Ile) NC_000009.12:35706005:C:T p.(Val1823Ile) NC_000009.12:35706005:C:T Identity +NM_001315529.2:c.9166C>T NP_001302458.1:p.Arg3056Trp NC_000021.9:46443865:C:T p.(Arg3056Trp) NC_000021.9:46443865:C:T p.(Arg3056Trp) NC_000021.9:46443865:C:T Identity +NM_001271608.2:c.148G>A NP_001258537.1:p.Glu50Lys NC_000017.11:38898477:G:A p.(Glu50Lys) NC_000017.11:38898477:G:A p.(Glu50Lys) NC_000017.11:38898477:G:A Identity +NM_001032380.1:c.2008C>G NP_001027552.1:p.Arg670Gly NC_000010.11:60871564:G:C ERR:Data provider error: ValueError: Transcript NM_001032380.1 not found ERR:Data provider error: ValueError: Transcript NM_001032380.1 not found ERR:AlignmentMapper(tx_ac=NM_001032380.1, alt_ac=NM_001032380.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001032380.1, alt_ac=NM_001032380.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001032380.1 not found +NM_001286694.1:c.65C>G NP_001273623.1:p.Thr22Ser NC_000015.10:68199551:G:C p.(Thr22Ser) NC_000015.10:68199551:G:C p.(Thr22Ser) NC_000015.10:68199551:G:C Identity +NM_018998.4:c.98G>A NP_061871.1:p.Cys33Tyr NC_000009.12:136943985:C:T p.(Cys33Tyr) NC_000009.12:136943985:C:T p.(Cys33Tyr) NC_000009.12:136943985:C:T Identity +NM_004173.3:c.589A>G NP_004164.2:p.Thr197Ala NC_000022.11:21031223:T:C p.(Thr197Ala) NC_000022.11:21031223:T:C p.(Thr197Ala) NC_000022.11:21031223:T:C Identity +NM_001098426.2:c.115G>A NP_001091896.1:p.Gly39Arg NC_000017.11:63842559:C:T p.(Gly39Arg) NC_000017.11:63842559:C:T p.(Gly39Arg) NC_000017.11:63842559:C:T Identity +NM_018902.5:c.917C>T NP_061725.1:p.Thr306Ile NC_000005.10:140870019:C:T p.(Thr306Ile) NC_000005.10:140870019:C:T p.(Thr306Ile) NC_000005.10:140870019:C:T Identity +NM_001284400.3:c.273A>T NP_001271329.1:p.Gln91His NC_000015.10:99287838:A:T p.(Gln91His) NC_000015.10:99287838:A:T p.(Gln91His) NC_000015.10:99287838:A:T Identity +NM_001076788.2:c.4442G>T NP_001070256.1:p.Arg1481Met NC_000013.11:45965311:C:A p.(Arg1481Met) NC_000013.11:45965311:C:A p.(Arg1481Met) NC_000013.11:45965311:C:A Identity +NM_014405.4:c.19G>A NP_055220.1:p.Gly7Arg NC_000017.11:66964929:G:A p.(Gly7Arg) NC_000017.11:66964929:G:A p.(Gly7Arg) NC_000017.11:66964929:G:A Identity +NM_020877.5:c.11791C>G NP_065928.2:p.His3931Asp NC_000017.11:7824664:C:G p.(His3931Asp) NC_000017.11:7824664:C:G p.(His3931Asp) NC_000017.11:7824664:C:G Identity +NM_001012644.3:c.144G>C NP_001012662.1:p.Glu48Asp NC_000020.11:31861657:C:G p.(Glu48Asp) NC_000020.11:31861657:C:G p.(Glu48Asp) NC_000020.11:31861657:C:G Identity +NM_173593.4:c.158C>T NP_775864.3:p.Pro53Leu NC_000012.12:460533:C:T p.(Pro53Leu) NC_000012.12:460533:C:T p.(Pro53Leu) NC_000012.12:460533:C:T Identity +NM_001041.4:c.1828G>A NP_001032.2:p.Glu610Lys NC_000003.12:165046899:C:T p.(Glu610Lys) NC_000003.12:165046899:C:T p.(Glu610Lys) NC_000003.12:165046899:C:T Identity +NM_001242532.5:c.519T>G NP_001229461.1:p.Phe173Leu NC_000017.11:76744343:T:G p.(Phe173Leu) NC_000017.11:76744343:T:G p.(Phe173Leu) NC_000017.11:76744343:T:G Identity +NM_177531.6:c.9680A>G NP_803875.2:p.Asn3227Ser NC_000008.11:109485146:A:G p.(Asn3227Ser) NC_000008.11:109485146:A:G p.(Asn3227Ser) NC_000008.11:109485146:A:G Identity +NM_001305105.2:c.685A>G NP_001292034.1:p.Ile229Val NC_000019.10:49857100:A:G p.(Ile229Val) NC_000019.10:49857100:A:G p.(Ile229Val) NC_000019.10:49857100:A:G Identity +NM_000725.4:c.319C>T NP_000716.2:p.Arg107Trp NC_000012.12:48824284:C:T p.(Arg107Trp) NC_000012.12:48824284:C:T p.(Arg107Trp) NC_000012.12:48824284:C:T Identity +NM_007365.3:c.1734C>A NP_031391.2:p.Asp578Glu NC_000001.11:17070117:G:T p.(Asp578Glu) NC_000001.11:17070117:G:T p.(Asp578Glu) NC_000001.11:17070117:G:T Identity +NM_001099293.3:c.901C>G NP_001092763.1:p.Leu301Val NC_000005.10:155014759:C:G p.(Leu301Val) NC_000005.10:155014759:C:G p.(Leu301Val) NC_000005.10:155014759:C:G Identity +NM_005027.4:c.254G>A NP_005018.2:p.Arg85Gln NC_000019.10:18156132:G:A p.(Arg85Gln) NC_000019.10:18156132:G:A p.(Arg85Gln) NC_000019.10:18156132:G:A Identity +NM_001167856.3:c.710G>T NP_001161328.1:p.Gly237Val NC_000012.12:123336432:C:A p.(Gly237Val) NC_000012.12:123336432:C:A p.(Gly237Val) NC_000012.12:123336432:C:A Identity +NM_001164507.2:c.22480G>C NP_001157979.2:p.Val7494Leu NC_000002.12:151519767:C:G p.(Val7494Leu) NC_000002.12:151519767:C:G p.(Val7494Leu) NC_000002.12:151519767:C:G Identity +NM_006042.3:c.844T>C NP_006033.1:p.Ser282Pro NC_000017.11:13496573:A:G p.(Ser282Pro) NC_000017.11:13496573:A:G p.(Ser282Pro) NC_000017.11:13496573:A:G Identity +NM_001202475.1:c.418T>C NP_001189404.1:p.Tyr140His NC_000007.14:30665617:A:G p.(Tyr140His) NC_000007.14:30665617:A:G p.(Tyr140His) NC_000007.14:30665617:A:G Identity +NM_001393376.1:c.2410G>C NP_001380305.1:p.Val804Leu NC_000003.12:74295227:C:G p.(Val804Leu) NC_000003.12:74295227:C:G p.(Val804Leu) NC_000003.12:74295227:C:G Identity +NM_007046.4:c.1040G>T NP_008977.1:p.Arg347Leu NC_000002.12:27082610:G:T p.(Arg347Leu) NC_000002.12:27082610:G:T p.(Arg347Leu) NC_000002.12:27082610:G:T Identity +NM_175710.2:c.329T>A NP_783641.1:p.Ile110Asn NC_000001.11:207678248:T:A p.(Ile110Asn) NC_000001.11:207678248:T:A p.(Ile110Asn) NC_000001.11:207678248:T:A Identity +NM_000884.3:c.1357A>G NP_000875.2:p.Ile453Val NC_000003.12:49024740:T:C p.(Ile453Val) NC_000003.12:49024740:T:C p.(Ile453Val) NC_000003.12:49024740:T:C Identity +NM_001633.4:c.978G>T NP_001624.1:p.Lys326Asn NC_000009.12:114060973:C:A p.(Lys326Asn) NC_000009.12:114060973:C:A p.(Lys326Asn) NC_000009.12:114060973:C:A Identity +NM_001394547.1:c.6857A>G NP_001381476.1:p.Gln2286Arg NC_000015.10:62819600:A:G p.(Gln2286Arg) NC_000015.10:62819600:A:G p.(Gln2286Arg) NC_000015.10:62819600:A:G Identity +NM_001352890.3:c.1147G>T NP_001339819.2:p.Val383Leu NC_000008.11:141155920:G:T p.(Val383Leu) NC_000008.11:141155920:G:T p.(Val383Leu) NC_000008.11:141155920:G:T Identity +NM_001166449.2:c.2308C>A NP_001159921.1:p.His770Asn NC_000003.12:52816956:G:T p.(His770Asn) NC_000003.12:52816956:G:T p.(His770Asn) NC_000003.12:52816956:G:T Identity +NM_001048194.4:c.539A>G NP_001041659.1:p.Asn180Ser NC_000001.11:28535053:A:G p.(Asn180Ser) NC_000001.11:28535053:A:G p.(Asn180Ser) NC_000001.11:28535053:A:G Identity +NM_020156.5:c.351A>C NP_064541.1:p.Lys117Asn NC_000007.14:7238384:A:C p.(Lys117Asn) NC_000007.14:7238384:A:C p.(Lys117Asn) NC_000007.14:7238384:A:C Identity +NM_001346765.2:c.3349G>A NP_001333694.1:p.Gly1117Ser NC_000017.11:29109896:C:T p.(Gly1117Ser) NC_000017.11:29109896:C:T p.(Gly1117Ser) NC_000017.11:29109896:C:T Identity +NM_004259.7:c.2669G>C NP_004250.4:p.Ser890Thr NC_000017.11:75628353:C:G p.(Ser890Thr) NC_000017.11:75628353:C:G p.(Ser890Thr) NC_000017.11:75628353:C:G Identity +NM_001253727.2:c.389A>C NP_001240656.1:p.Gln130Pro NC_000004.12:158599346:A:C p.(Gln130Pro) NC_000004.12:158599346:A:C p.(Gln130Pro) NC_000004.12:158599346:A:C Identity +NM_022098.4:c.464G>A NP_071381.1:p.Arg155Gln NC_000022.11:40882051:G:A p.(Arg155Gln) NC_000022.11:40882051:G:A p.(Arg155Gln) NC_000022.11:40882051:G:A Identity +NM_025112.5:c.2273A>G NP_079388.3:p.His758Arg NC_000003.12:126441885:T:C p.(His758Arg) NC_000003.12:126441885:T:C p.(His758Arg) NC_000003.12:126441885:T:C Identity +NM_003185.4:c.1775A>C NP_003176.2:p.Asn592Thr NC_000020.11:62009160:T:G p.(Asn592Thr) NC_000020.11:62009160:T:G p.(Asn592Thr) NC_000020.11:62009160:T:G Identity +NM_176782.3:c.1144G>A NP_788954.2:p.Val382Met NC_000001.11:54609881:C:T p.(Val382Met) NC_000001.11:54609881:C:T p.(Val382Met) NC_000001.11:54609881:C:T Identity +NM_001099222.3:c.1368G>A NP_001092692.1:p.Met456Ile NC_000009.12:27055642:G:A p.(Met456Ile) NC_000009.12:27055642:G:A p.(Met456Ile) NC_000009.12:27055642:G:A Identity +NM_001164694.2:c.207A>C NP_001158166.1:p.Glu69Asp NC_000006.12:150389379:A:C p.(Glu69Asp) NC_000006.12:150389379:A:C p.(Glu69Asp) NC_000006.12:150389379:A:C Identity +NM_001013703.4:c.3140A>G NP_001013725.2:p.Tyr1047Cys NC_000015.10:40001204:A:G p.(Tyr1047Cys) NC_000015.10:40001204:A:G p.(Tyr1047Cys) NC_000015.10:40001204:A:G Identity +NM_001145513.1:c.876C>G NP_001138985.1:p.His292Gln NC_000007.14:29936584:G:C p.(His292Gln) NC_000007.14:29936584:G:C p.(His292Gln) NC_000007.14:29936584:G:C Identity +NM_015042.2:c.2362A>G NP_055857.1:p.Ile788Val NC_000015.10:64675215:A:G p.(Ile788Val) NC_000015.10:64675215:A:G p.(Ile788Val) NC_000015.10:64675215:A:G Identity +NM_001007553.3:c.1909G>A NP_001007554.1:p.Val637Ile NC_000001.11:114720681:C:T p.(Val637Ile) NC_000001.11:114720681:C:T p.(Val637Ile) NC_000001.11:114720681:C:T Identity +NM_001034023.2:c.442C>T NP_001029195.1:p.His148Tyr NC_000001.11:44218358:C:T p.(His148Tyr) NC_000001.11:44218358:C:T p.(His148Tyr) NC_000001.11:44218358:C:T Identity +NM_001282394.3:c.3363G>T NP_001269323.1:p.Glu1121Asp NC_000009.12:93262671:G:T p.(Glu1121Asp) NC_000009.12:93262671:G:T p.(Glu1121Asp) NC_000009.12:93262671:G:T Identity +NM_001073.3:c.62G>C NP_001064.1:p.Gly21Ala NC_000004.12:69214660:C:G p.(Gly21Ala) NC_000004.12:69214660:C:G p.(Gly21Ala) NC_000004.12:69214660:C:G Identity +NM_001270411.2:c.997C>A NP_001257340.2:p.Pro333Thr NC_000022.11:38992086:C:A p.(Pro333Thr) NC_000022.11:38992086:C:A p.(Pro333Thr) NC_000022.11:38992086:C:A Identity +NM_004422.3:c.882C>G NP_004413.1:p.Ile294Met NC_000017.11:7229209:G:C p.(Ile294Met) NC_000017.11:7229209:G:C p.(Ile294Met) NC_000017.11:7229209:G:C Identity +NM_000833.5:c.2842T>A NP_000824.1:p.Ser948Thr NC_000016.10:9764701:A:T p.(Ser948Thr) NC_000016.10:9764701:A:T p.(Ser948Thr) NC_000016.10:9764701:A:T Identity +NM_014788.4:c.781C>A NP_055603.2:p.Leu261Ile NC_000009.12:98091920:G:T p.(Leu261Ile) NC_000009.12:98091920:G:T p.(Leu261Ile) NC_000009.12:98091920:G:T Identity +NM_003862.3:c.548C>T NP_003853.1:p.Pro183Leu NC_000005.10:171456728:C:T p.(Pro183Leu) NC_000005.10:171456728:C:T p.(Pro183Leu) NC_000005.10:171456728:C:T Identity +NM_001326411.2:c.976G>C NP_001313340.1:p.Val326Leu NC_000022.11:31620581:C:G p.(Val326Leu) NC_000022.11:31620581:C:G p.(Val326Leu) NC_000022.11:31620581:C:G Identity +NM_021977.4:c.650T>A NP_068812.1:p.Val217Glu NC_000006.12:160407156:T:A p.(Val217Glu) NC_000006.12:160407156:T:A p.(Val217Glu) NC_000006.12:160407156:T:A Identity +NM_017622.3:c.325C>T NP_060092.2:p.Arg109Trp NC_000017.11:8189815:G:A p.(Arg109Trp) NC_000017.11:8189815:G:A p.(Arg109Trp) NC_000017.11:8189815:G:A Identity +NM_018566.4:c.58G>C NP_061036.3:p.Gly20Arg NC_000001.11:207050972:C:G p.(Gly20Arg) NC_000001.11:207050972:C:G p.(Gly20Arg) NC_000001.11:207050972:C:G Identity +NM_001323538.2:c.1217T>G NP_001310467.1:p.Val406Gly NC_000016.10:2456799:T:G p.(Val406Gly) NC_000016.10:2456799:T:G p.(Val406Gly) NC_000016.10:2456799:T:G Identity +NM_207163.3:c.251A>G NP_997046.1:p.Glu84Gly NC_000007.14:123656213:A:G p.(Glu84Gly) NC_000007.14:123656213:A:G p.(Glu84Gly) NC_000007.14:123656213:A:G Identity +NM_001033576.2:c.145C>T NP_001028748.1:p.Arg49Trp NC_000017.11:35148407:C:T p.(Arg49Trp) NC_000017.11:35148407:C:T p.(Arg49Trp) NC_000017.11:35148407:C:T Identity +NM_001270546.1:c.569T>G NP_001257475.1:p.Val190Gly NC_000015.10:85655690:T:G p.(Val190Gly) NC_000015.10:85655690:T:G p.(Val190Gly) NC_000015.10:85655690:T:G Identity +NM_001130910.2:c.226G>A NP_001124382.1:p.Val76Ile NC_000003.12:46408268:G:A p.(Val76Ile) NC_000003.12:46408268:G:A p.(Val76Ile) NC_000003.12:46408268:G:A Identity +NM_001281710.2:c.71C>G NP_001268639.1:p.Pro24Arg NC_000002.12:96341725:C:G p.(Pro24Arg) NC_000002.12:96341725:C:G p.(Pro24Arg) NC_000002.12:96341725:C:G Identity +NM_001005498.4:c.1459T>G NP_001005498.2:p.Cys487Gly NC_000017.11:76474377:A:C p.(Cys487Gly) NC_000017.11:76474377:A:C p.(Cys487Gly) NC_000017.11:76474377:A:C Identity +NM_017864.4:c.559A>G NP_060334.2:p.Ile187Val NC_000008.11:94829014:A:G p.(Ile187Val) NC_000008.11:94829014:A:G p.(Ile187Val) NC_000008.11:94829014:A:G Identity +NM_004459.7:c.4730A>G NP_004450.3:p.Asp1577Gly NC_000017.11:67912235:A:G p.(Asp1577Gly) NC_000017.11:67912235:A:G p.(Asp1577Gly) NC_000017.11:67912235:A:G Identity +NM_001130058.2:c.29C>T NP_001123530.1:p.Thr10Ile NC_000001.11:75396605:G:A p.(Thr10Ile) NC_000001.11:75396605:G:A p.(Thr10Ile) NC_000001.11:75396605:G:A Identity +NM_032048.3:c.2848G>A NP_114437.2:p.Gly950Arg NC_000018.10:2913089:G:A p.(Gly950Arg) NC_000018.10:2913089:G:A p.(Gly950Arg) NC_000018.10:2913089:G:A Identity +NM_000927.5:c.3066C>A NP_000918.2:p.Ser1022Arg NC_000007.14:87516526:G:T p.(Ser1022Arg) NC_000007.14:87516526:G:T p.(Ser1022Arg) NC_000007.14:87516526:G:T Identity +NM_006289.4:c.151C>A NP_006280.3:p.Leu51Met NC_000009.12:35725300:G:T p.(Leu51Met) NC_000009.12:35725300:G:T p.(Leu51Met) NC_000009.12:35725300:G:T Identity +NM_001076786.3:c.3991C>T NP_001070254.2:p.Pro1331Ser NC_000011.10:32935248:C:T p.(Pro1331Ser) NC_000011.10:32935248:C:T p.(Pro1331Ser) NC_000011.10:32935248:C:T Identity +NM_152888.3:c.4494A>C NP_690848.1:p.Arg1498Ser NC_000008.11:138594137:T:G p.(Arg1498Ser) NC_000008.11:138594137:T:G p.(Arg1498Ser) NC_000008.11:138594137:T:G Identity +NM_005860.3:c.212G>C NP_005851.1:p.Trp71Ser NC_000019.10:677899:G:C p.(Trp71Ser) NC_000019.10:677899:G:C p.(Trp71Ser) NC_000019.10:677899:G:C Identity +NM_001242920.2:c.998A>C NP_001229849.1:p.Glu333Ala NC_000020.11:45899537:T:G p.(Glu333Ala) NC_000020.11:45899537:T:G p.(Glu333Ala) NC_000020.11:45899537:T:G Identity +NM_001013836.2:c.1646C>A NP_001013858.1:p.Pro549His NC_000007.14:1936847:G:T p.(Pro549His) NC_000007.14:1936847:G:T p.(Pro549His) NC_000007.14:1936847:G:T Identity +NM_024629.4:c.1090C>T NP_078905.2:p.Leu364Phe NC_000004.12:184697699:G:A p.(Leu364Phe) NC_000004.12:184697699:G:A p.(Leu364Phe) NC_000004.12:184697699:G:A Identity +NM_001003792.3:c.41A>G NP_001003792.1:p.Tyr14Cys NC_000003.12:29281721:A:G p.(Tyr14Cys) NC_000003.12:29281721:A:G p.(Tyr14Cys) NC_000003.12:29281721:A:G Identity +NM_001288732.2:c.394T>A NP_001275661.1:p.Leu132Met NC_000017.11:64213823:A:T p.(Leu132Met) NC_000017.11:64213823:A:T p.(Leu132Met) NC_000017.11:64213823:A:T Identity +NM_000862.3:c.949C>A NP_000853.1:p.Arg317Ser NC_000001.11:119514471:C:A p.(Arg317Ser) NC_000001.11:119514471:C:A p.(Arg317Ser) NC_000001.11:119514471:C:A Identity +NM_001305002.2:c.793C>T NP_001291931.1:p.Arg265Cys NC_000016.10:47260633:G:A p.(Arg265Cys) NC_000016.10:47260633:G:A p.(Arg265Cys) NC_000016.10:47260633:G:A Identity +NM_006235.3:c.737C>T NP_006226.2:p.Ala246Val NC_000011.10:111354294:G:A p.(Ala246Val) NC_000011.10:111354294:G:A p.(Ala246Val) NC_000011.10:111354294:G:A Identity +NM_003565.4:c.2063C>T NP_003556.2:p.Pro688Leu NC_000012.12:131916581:C:T p.(Pro688Leu) NC_000012.12:131916581:C:T p.(Pro688Leu) NC_000012.12:131916581:C:T Identity +NM_001001659.3:c.155G>C NP_001001659.1:p.Cys52Ser NC_000007.14:144129266:G:C p.(Cys52Ser) NC_000007.14:144129266:G:C p.(Cys52Ser) NC_000007.14:144129266:G:C Identity +NM_001017975.6:c.3822T>A NP_001017975.5:p.Phe1274Leu NC_000001.11:91267805:A:T p.(Phe1274Leu) NC_000001.11:91267805:A:T p.(Phe1274Leu) NC_000001.11:91267805:A:T Identity +NM_022575.4:c.1008A>T NP_072097.2:p.Glu336Asp NC_000020.11:2862066:A:T p.(Glu336Asp) NC_000020.11:2862066:A:T p.(Glu336Asp) NC_000020.11:2862066:A:T Identity +NM_001320611.3:c.188C>T NP_001307540.1:p.Pro63Leu NC_000017.11:68037469:C:T p.(Pro63Leu) NC_000017.11:68037469:C:T p.(Pro63Leu) NC_000017.11:68037469:C:T Identity +NM_001164317.2:c.3232G>A NP_001157789.1:p.Glu1078Lys NC_000003.12:58123197:G:A p.(Glu1078Lys) NC_000003.12:58123197:G:A p.(Glu1078Lys) NC_000003.12:58123197:G:A Identity +NM_002422.5:c.290T>C NP_002413.1:p.Val97Ala NC_000011.10:102842731:A:G p.(Val97Ala) NC_000011.10:102842731:A:G p.(Val97Ala) NC_000011.10:102842731:A:G Identity +NM_005468.3:c.1051G>A NP_005459.2:p.Gly351Ser NC_000011.10:65053517:C:T p.(Gly351Ser) NC_000011.10:65053517:C:T p.(Gly351Ser) NC_000011.10:65053517:C:T Identity +NM_001308440.2:c.40C>A NP_001295369.1:p.Pro14Thr NC_000019.10:56539057:C:A p.(Pro14Thr) NC_000019.10:56539057:C:A p.(Pro14Thr) NC_000019.10:56539057:C:A Identity +NM_004482.4:c.154A>G NP_004473.2:p.Met52Val NC_000002.12:165770546:T:C p.(Met52Val) NC_000002.12:165770546:T:C p.(Met52Val) NC_000002.12:165770546:T:C Identity +NM_001105250.3:c.899C>T NP_001098720.1:p.Thr300Met NC_000014.9:79697836:C:T p.(Thr300Met) NC_000014.9:79697836:C:T p.(Thr300Met) NC_000014.9:79697836:C:T Identity +NM_001256264.2:c.2894C>T NP_001243193.1:p.Pro965Leu NC_000017.11:18246717:G:A p.(Pro965Leu) NC_000017.11:18246717:G:A p.(Pro965Leu) NC_000017.11:18246717:G:A Identity +NM_001135110.3:c.552G>T NP_001128582.1:p.Glu184Asp NC_000016.10:4441496:G:T p.(Glu184Asp) NC_000016.10:4441496:G:T p.(Glu184Asp) NC_000016.10:4441496:G:T Identity +NM_003128.3:c.3298C>G NP_003119.2:p.Leu1100Val NC_000002.12:54631344:C:G p.(Leu1100Val) NC_000002.12:54631344:C:G p.(Leu1100Val) NC_000002.12:54631344:C:G Identity +NM_001172632.2:c.537A>G NP_001166103.1:p.Pro179= NC_000012.12:10160349:T:C p.(Pro179=) NC_000012.12:10160349:T:C p.(Pro179=) NC_000012.12:10160349:T:C Identity +NM_001029851.4:c.736G>T NP_001025022.1:p.Ala246Ser NC_000005.10:77337253:G:T p.(Ala246Ser) NC_000005.10:77337253:G:T p.(Ala246Ser) NC_000005.10:77337253:G:T Identity +NM_001197294.2:c.1768G>A NP_001184223.1:p.Asp590Asn NC_000005.10:147397700:C:T p.(Asp590Asn) NC_000005.10:147397700:C:T p.(Asp590Asn) NC_000005.10:147397700:C:T Identity +NM_001352591.2:c.472A>G NP_001339520.1:p.Ile158Val NC_000021.9:21286402:A:G p.(Ile158Val) NC_000021.9:21286402:A:G p.(Ile158Val) NC_000021.9:21286402:A:G Identity +NM_001354830.2:c.1327C>A NP_001341759.1:p.His443Asn NC_000011.10:7000388:G:T p.(His443Asn) NC_000011.10:7000388:G:T p.(His443Asn) NC_000011.10:7000388:G:T Identity +NM_002293.4:c.3751G>T NP_002284.3:p.Ala1251Ser NC_000001.11:183133451:G:T p.(Ala1251Ser) NC_000001.11:183133451:G:T p.(Ala1251Ser) NC_000001.11:183133451:G:T Identity +NM_001194.4:c.2398G>A NP_001185.3:p.Ala800Thr NC_000019.10:616201:G:A p.(Ala800Thr) NC_000019.10:616201:G:A p.(Ala800Thr) NC_000019.10:616201:G:A Identity +NM_002114.4:c.38G>A NP_002105.3:p.Arg13Lys NC_000006.12:12015665:G:A p.(Arg13Lys) NC_000006.12:12015665:G:A p.(Arg13Lys) NC_000006.12:12015665:G:A Identity +NM_001291992.2:c.120T>A NP_001278921.1:p.His40Gln NC_000011.10:133845148:A:T p.(His40Gln) NC_000011.10:133845148:A:T p.(His40Gln) NC_000011.10:133845148:A:T Identity +NM_080607.3:c.245G>A NP_542174.1:p.Arg82Gln NC_000020.11:37931757:G:A p.(Arg82Gln) NC_000020.11:37931757:G:A p.(Arg82Gln) NC_000020.11:37931757:G:A Identity +NM_001058.4:c.451A>C NP_001049.1:p.Ile151Leu NC_000002.12:75120706:T:G p.(Ile151Leu) NC_000002.12:75120706:T:G p.(Ile151Leu) NC_000002.12:75120706:T:G Identity +NM_001346218.2:c.1637G>C NP_001333147.1:p.Gly546Ala NC_000014.9:93542577:G:C p.(Gly546Ala) NC_000014.9:93542577:G:C p.(Gly546Ala) NC_000014.9:93542577:G:C Identity +NM_000309.5:c.1115C>A NP_000300.1:p.Ser372Tyr NC_000001.11:161170635:C:A p.(Ser372Tyr) NC_000001.11:161170635:C:A p.(Ser372Tyr) NC_000001.11:161170635:C:A Identity +NM_170674.5:c.644CTT[2] NP_733774.1:p.Ser217del NC_000015.10:37083872:AAGAAGAAG:AAGAAG p.(Ser217del) NC_000015.10:37083880:G:AAGAAG ERR:Parse ERR:Parse Identity +NM_001243891.2:c.500C>T NP_001230820.1:p.Ser167Leu NC_000020.11:63889898:C:T p.(Ser167Leu) NC_000020.11:63889898:C:T p.(Ser167Leu) NC_000020.11:63889898:C:T Identity +NM_014287.4:c.1225A>G NP_055102.3:p.Ser409Gly NC_000016.10:14863016:A:G p.(Ser409Gly) NC_000016.10:14863016:A:G p.(Ser409Gly) NC_000016.10:14863016:A:G Identity +NM_015056.3:c.1426C>T NP_055871.1:p.Arg476Trp NC_000021.9:43687799:C:T p.(Arg476Trp) NC_000021.9:43687799:C:T p.(Arg476Trp) NC_000021.9:43687799:C:T Identity +NM_001856.4:c.2507G>C NP_001847.3:p.Gly836Ala NC_000001.11:31682964:C:G p.(Gly836Ala) NC_000001.11:31682964:C:G p.(Gly836Ala) NC_000001.11:31682964:C:G Identity +NM_001105576.3:c.79C>T NP_001099046.1:p.Pro27Ser NC_000023.11:119758745:C:T p.(Pro27Ser) NC_000023.11:119758745:C:T p.(Pro27Ser) NC_000023.11:119758745:C:T Identity +NM_001321312.2:c.1042C>G NP_001308241.1:p.Leu348Val NC_000002.12:190683773:C:G p.(Leu348Val) NC_000002.12:190683773:C:G p.(Leu348Val) NC_000002.12:190683773:C:G Identity +NM_003263.4:c.136A>G NP_003254.2:p.Lys46Glu NC_000004.12:38798695:T:C p.(Lys46Glu) NC_000004.12:38798695:T:C p.(Lys46Glu) NC_000004.12:38798695:T:C Identity +NM_001114133.3:c.1282G>C NP_001107605.1:p.Ala428Pro NC_000010.11:73648369:C:G p.(Ala428Pro) NC_000010.11:73648369:C:G p.(Ala428Pro) NC_000010.11:73648369:C:G Identity +NM_001012759.3:c.713A>G NP_001012777.1:p.Lys238Arg NC_000016.10:88712880:A:G p.(Lys238Arg) NC_000016.10:88712880:A:G p.(Lys238Arg) NC_000016.10:88712880:A:G Identity +NM_001288833.2:c.1232C>T NP_001275762.1:p.Pro411Leu NC_000022.11:24627874:C:T p.(Pro411Leu) NC_000022.11:24627874:C:T p.(Pro411Leu) NC_000022.11:24627874:C:T Identity +NM_001258307.2:c.322T>A NP_001245236.1:p.Ser108Thr NC_000002.12:130142156:A:T p.(Ser108Thr) NC_000002.12:130142156:A:T p.(Ser108Thr) NC_000002.12:130142156:A:T Identity +NM_014028.4:c.233C>G NP_054747.2:p.Pro78Arg NC_000006.12:108074418:G:C p.(Pro78Arg) NC_000006.12:108074418:G:C p.(Pro78Arg) NC_000006.12:108074418:G:C Identity +NM_001318480.2:c.589G>C NP_001305409.2:p.Glu197Gln NC_000004.12:8217144:G:C p.(Glu197Gln) NC_000004.12:8217144:G:C p.(Glu197Gln) NC_000004.12:8217144:G:C Identity +NM_001207047.3:c.1667C>T NP_001193976.1:p.Ser556Leu NC_000020.11:3572873:C:T p.(Ser556Leu) NC_000020.11:3572873:C:T p.(Ser556Leu) NC_000020.11:3572873:C:T Identity +NM_001353433.2:c.878A>G NP_001340362.1:p.Gln293Arg NC_000019.10:34421604:A:G p.(Gln293Arg) NC_000019.10:34421604:A:G p.(Gln293Arg) NC_000019.10:34421604:A:G Identity +NM_001038705.3:c.1147T>C NP_001033794.1:p.Tyr383His NC_000003.12:154427542:A:G p.(Tyr383His) NC_000003.12:154427542:A:G p.(Tyr383His) NC_000003.12:154427542:A:G Identity +NM_001174081.3:c.1112A>C NP_001167552.1:p.His371Pro NC_000019.10:54982809:A:C p.(His371Pro) NC_000019.10:54982809:A:C p.(His371Pro) NC_000019.10:54982809:A:C Identity +NM_001135773.2:c.908G>A NP_001129245.1:p.Ser303Asn NC_000020.11:49906273:C:T p.(Ser303Asn) NC_000020.11:49906273:C:T p.(Ser303Asn) NC_000020.11:49906273:C:T Identity +NM_177400.3:c.745G>A NP_796374.2:p.Glu249Lys NC_000010.11:132785004:C:T p.(Glu249Lys) NC_000010.11:132785004:C:T p.(Glu249Lys) NC_000010.11:132785004:C:T Identity +NM_014568.3:c.323C>A NP_055383.1:p.Thr108Asn NC_000002.12:157258404:C:A p.(Thr108Asn) NC_000002.12:157258404:C:A p.(Thr108Asn) NC_000002.12:157258404:C:A Identity +NM_152726.3:c.397G>A NP_689939.1:p.Glu133Lys NC_000013.11:21539370:C:T p.(Glu133Lys) NC_000013.11:21539370:C:T p.(Glu133Lys) NC_000013.11:21539370:C:T Identity +NM_001145320.2:c.2215C>T NP_001138792.1:p.Arg739Trp NC_000009.12:133568728:C:T p.(Arg739Trp) NC_000009.12:133568728:C:T p.(Arg739Trp) NC_000009.12:133568728:C:T Identity +NM_001017388.3:c.1556C>A NP_001017388.1:p.Ala519Glu NC_000004.12:38774034:G:T p.(Ala519Glu) NC_000004.12:38774034:G:T p.(Ala519Glu) NC_000004.12:38774034:G:T Identity +NM_001037125.4:c.379G>A NP_001032202.1:p.Ala127Thr NC_000016.10:1403252:C:T p.(Ala127Thr) NC_000016.10:1403252:C:T p.(Ala127Thr) NC_000016.10:1403252:C:T Identity +NM_001005189.2:c.169G>T NP_001005189.1:p.Asp57Tyr NC_000001.11:158547936:C:A p.(Asp57Tyr) NC_000001.11:158547936:C:A p.(Asp57Tyr) NC_000001.11:158547936:C:A Identity +NM_001193369.2:c.2228G>A NP_001180298.1:p.Arg743His NC_000020.11:62895151:C:T p.(Arg743His) NC_000020.11:62895151:C:T p.(Arg743His) NC_000020.11:62895151:C:T Identity +NM_176882.2:c.826T>C NP_795363.1:p.Ser276Pro NC_000007.14:143222903:T:C p.(Ser276Pro) NC_000007.14:143222903:T:C p.(Ser276Pro) NC_000007.14:143222903:T:C Identity +NM_004638.4:c.6427C>T NP_004629.3:p.Pro2143Ser NC_000006.12:31637538:C:T p.(Pro2143Ser) NC_000006.12:31637538:C:T p.(Pro2143Ser) NC_000006.12:31637538:C:T Identity +NM_014572.3:c.72G>C NP_055387.2:p.Glu24Asp NC_000013.11:21045954:C:G p.(Glu24Asp) NC_000013.11:21045954:C:G p.(Glu24Asp) NC_000013.11:21045954:C:G Identity +NM_152744.4:c.1483A>G NP_689957.3:p.Met495Val NC_000007.14:3967370:A:G p.(Met495Val) NC_000007.14:3967370:A:G p.(Met495Val) NC_000007.14:3967370:A:G Identity +NM_001947.4:c.940A>G NP_001938.2:p.Ile314Val NC_000003.12:52053951:T:C p.(Ile314Val) NC_000003.12:52053951:T:C p.(Ile314Val) NC_000003.12:52053951:T:C Identity +NM_015089.4:c.943C>G NP_055904.1:p.Arg315Gly NC_000006.12:43186146:C:G p.(Arg315Gly) NC_000006.12:43186146:C:G p.(Arg315Gly) NC_000006.12:43186146:C:G Identity +NM_031476.4:c.280G>C NP_113664.1:p.Ala94Pro NC_000016.10:84845824:G:C p.(Ala94Pro) NC_000016.10:84845824:G:C p.(Ala94Pro) NC_000016.10:84845824:G:C Identity +NM_144622.3:c.1610A>G NP_653223.2:p.Gln537Arg NC_000001.11:155026302:T:C p.(Gln537Arg) NC_000001.11:155026302:T:C p.(Gln537Arg) NC_000001.11:155026302:T:C Identity +NM_001330170.2:c.541A>G NP_001317099.1:p.Ile181Val NC_000017.11:28882374:T:C p.(Ile181Val) NC_000017.11:28882374:T:C p.(Ile181Val) NC_000017.11:28882374:T:C Identity +NM_001289020.3:c.1960A>G NP_001275949.1:p.Met654Val NC_000006.12:39360465:T:C p.(Met654Val) NC_000006.12:39360465:T:C p.(Met654Val) NC_000006.12:39360465:T:C Identity +NM_001351089.2:c.498G>T NP_001338018.1:p.Met166Ile NC_000012.12:56026991:G:T p.(Met166Ile) NC_000012.12:56026991:G:T p.(Met166Ile) NC_000012.12:56026991:G:T Identity +NM_001398.3:c.977C>T NP_001389.2:p.Ser326Phe NC_000019.10:38815622:G:A p.(Ser326Phe) NC_000019.10:38815622:G:A p.(Ser326Phe) NC_000019.10:38815622:G:A Identity +NM_000035.4:c.694A>G NP_000026.2:p.Asn232Asp NC_000009.12:101425557:T:C p.(Asn232Asp) NC_000009.12:101425557:T:C p.(Asn232Asp) NC_000009.12:101425557:T:C Identity +NM_172241.3:c.1873C>T NP_758441.2:p.Pro625Ser NC_000018.10:22415938:G:A p.(Pro625Ser) NC_000018.10:22415938:G:A p.(Pro625Ser) NC_000018.10:22415938:G:A Identity +NM_014597.5:c.1961C>G NP_055412.2:p.Thr654Arg NC_000001.11:93872177:G:C p.(Thr654Arg) NC_000001.11:93872177:G:C p.(Thr654Arg) NC_000001.11:93872177:G:C Identity +NM_001300801.2:c.2035C>T NP_001287730.1:p.His679Tyr NC_000012.12:122995407:G:A p.(His679Tyr) NC_000012.12:122995407:G:A p.(His679Tyr) NC_000012.12:122995407:G:A Identity +NM_152353.3:c.13C>T NP_689566.1:p.Arg5Trp NC_000019.10:51368564:G:A p.(Arg5Trp) NC_000019.10:51368564:G:A p.(Arg5Trp) NC_000019.10:51368564:G:A Identity +NM_152763.5:c.2350T>G NP_689976.2:p.Phe784Val NC_000001.11:108817076:A:C p.(Phe784Val) NC_000001.11:108817076:A:C p.(Phe784Val) NC_000001.11:108817076:A:C Identity +NM_001282795.2:c.1778A>C NP_001269724.1:p.Glu593Ala NC_000008.11:144842851:A:C p.(Glu593Ala) NC_000008.11:144842851:A:C p.(Glu593Ala) NC_000008.11:144842851:A:C Identity +NM_001198557.2:c.211A>G NP_001185486.1:p.Met71Val NC_000005.10:126811799:A:G p.(Met71Val) NC_000005.10:126811799:A:G p.(Met71Val) NC_000005.10:126811799:A:G Identity +NM_001318234.2:c.1448C>T NP_001305163.1:p.Thr483Met NC_000020.11:1305884:C:T p.(Thr483Met) NC_000020.11:1305884:C:T p.(Thr483Met) NC_000020.11:1305884:C:T Identity +NM_001384285.1:c.118C>T NP_001371214.1:p.Arg40Trp NC_000021.9:39428375:G:A p.(Arg40Trp) NC_000021.9:39428375:G:A p.(Arg40Trp) NC_000021.9:39428375:G:A Identity +NM_000352.6:c.3995C>T NP_000343.2:p.Ser1332Leu NC_000011.10:17397039:G:A p.(Ser1332Leu) NC_000011.10:17397039:G:A p.(Ser1332Leu) NC_000011.10:17397039:G:A Identity +NM_001282640.2:c.286G>A NP_001269569.1:p.Gly96Arg NC_000009.12:112149330:C:T p.(Gly96Arg) NC_000009.12:112149330:C:T p.(Gly96Arg) NC_000009.12:112149330:C:T Identity +NM_003728.4:c.1315C>A NP_003719.3:p.Pro439Thr NC_000004.12:95219298:G:T p.(Pro439Thr) NC_000004.12:95219298:G:T p.(Pro439Thr) NC_000004.12:95219298:G:T Identity +NM_152540.4:c.400G>C NP_689753.2:p.Glu134Gln NC_000004.12:53365541:C:G p.(Glu134Gln) NC_000004.12:53365541:C:G p.(Glu134Gln) NC_000004.12:53365541:C:G Identity +NM_001271848.2:c.1865C>G NP_001258777.1:p.Pro622Arg NC_000019.10:11949879:C:G p.(Pro622Arg) NC_000019.10:11949879:C:G p.(Pro622Arg) NC_000019.10:11949879:C:G Identity +NM_001252127.2:c.1883T>C NP_001239056.1:p.Leu628Pro NC_000015.10:50993386:T:C p.(Leu628Pro) NC_000015.10:50993386:T:C p.(Leu628Pro) NC_000015.10:50993386:T:C Identity +NM_001001411.3:c.572A>G NP_001001411.2:p.His191Arg NC_000019.10:22181144:T:C p.(His191Arg) NC_000019.10:22181144:T:C p.(His191Arg) NC_000019.10:22181144:T:C Identity +NM_002220.3:c.1345G>T NP_002211.1:p.Asp449Tyr NC_000015.10:41503124:G:T p.(Asp449Tyr) NC_000015.10:41503124:G:T p.(Asp449Tyr) NC_000015.10:41503124:G:T Identity +NM_001031836.3:c.2147T>C NP_001027006.2:p.Ile716Thr NC_000008.11:36909350:T:C p.(Ile716Thr) NC_000008.11:36909350:T:C p.(Ile716Thr) NC_000008.11:36909350:T:C Identity +NM_001286790.2:c.1349A>G NP_001273719.1:p.Asn450Ser NC_000004.12:77726272:T:C p.(Asn450Ser) NC_000004.12:77726272:T:C p.(Asn450Ser) NC_000004.12:77726272:T:C Identity +NM_033404.1:c.3880T>C NP_208383.1:p.Ser1294Pro NC_000010.11:133211696:T:C ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.1 not found +NM_001134400.2:c.386G>T NP_001127872.1:p.Gly129Val NC_000001.11:109495888:G:T p.(Gly129Val) NC_000001.11:109495888:G:T p.(Gly129Val) NC_000001.11:109495888:G:T Identity +NM_001320559.2:c.1225G>A NP_001307488.1:p.Asp409Asn NC_000003.12:39143659:C:T p.(Asp409Asn) NC_000003.12:39143659:C:T p.(Asp409Asn) NC_000003.12:39143659:C:T Identity +NM_001377329.1:c.1746G>A NP_001364258.1:p.Met582Ile NC_000012.12:92764069:G:A p.(Met582Ile) NC_000012.12:92764069:G:A p.(Met582Ile) NC_000012.12:92764069:G:A Identity +NM_001287135.2:c.140T>C NP_001274064.1:p.Met47Thr NC_000007.14:90726582:T:C p.(Met47Thr) NC_000007.14:90726582:T:C p.(Met47Thr) NC_000007.14:90726582:T:C Identity +NM_001195733.2:c.1361C>T NP_001182662.1:p.Pro454Leu NC_000019.10:3644235:G:A p.(Pro454Leu) NC_000019.10:3644235:G:A p.(Pro454Leu) NC_000019.10:3644235:G:A Identity +NM_000128.4:c.1751A>G NP_000119.1:p.Asn584Ser NC_000004.12:186288486:A:G p.(Asn584Ser) NC_000004.12:186288486:A:G p.(Asn584Ser) NC_000004.12:186288486:A:G Identity +NM_001037334.2:c.136G>A NP_001032411.1:p.Val46Ile NC_000018.10:163426:G:A p.(Val46Ile) NC_000018.10:163426:G:A p.(Val46Ile) NC_000018.10:163426:G:A Identity +NM_001301030.2:c.1394G>A NP_001287959.1:p.Arg465Gln NC_000019.10:42042630:C:T p.(Arg465Gln) NC_000019.10:42042630:C:T p.(Arg465Gln) NC_000019.10:42042630:C:T Identity +NM_015596.3:c.395C>A NP_056411.1:p.Ser132Tyr NC_000019.10:51059937:G:T p.(Ser132Tyr) NC_000019.10:51059937:G:T p.(Ser132Tyr) NC_000019.10:51059937:G:T Identity +NM_001410905.1:c.3080C>T NP_001397834.1:p.Thr1027Met NC_000016.10:11178613:C:T p.(Thr1027Met) NC_000016.10:11178613:C:T p.(Thr1027Met) NC_000016.10:11178613:C:T Identity +NM_052972.3:c.140G>A NP_443204.1:p.Arg47His NC_000019.10:4538843:C:T p.(Arg47His) NC_000019.10:4538843:C:T p.(Arg47His) NC_000019.10:4538843:C:T Identity +NM_001166400.2:c.13C>G NP_001159872.1:p.Gln5Glu NC_000023.11:149884284:C:G p.(Gln5Glu) NC_000023.11:149884284:C:G p.(Gln5Glu) NC_000023.11:149884284:C:G Identity +NM_178449.4:c.271A>C NP_848544.1:p.Met91Leu NC_000019.10:49422499:T:G p.(Met91Leu) NC_000019.10:49422499:T:G p.(Met91Leu) NC_000019.10:49422499:T:G Identity +NM_001082959.2:c.541T>C NP_001076428.1:p.Trp181Arg NC_000012.12:124814290:A:G p.(Trp181Arg) NC_000012.12:124814290:A:G p.(Trp181Arg) NC_000012.12:124814290:A:G Identity +NM_001085471.2:c.802C>A NP_001078940.1:p.Gln268Lys NC_000014.9:89190392:G:T p.(Gln268Lys) NC_000014.9:89190392:G:T p.(Gln268Lys) NC_000014.9:89190392:G:T Identity +NM_019121.2:c.637C>T NP_061994.1:p.Arg213Cys NC_000019.10:45142129:C:T p.(Arg213Cys) NC_000019.10:45142129:C:T p.(Arg213Cys) NC_000019.10:45142129:C:T Identity +NM_001351377.2:c.88C>T NP_001338306.1:p.Pro30Ser NC_000003.12:39185406:G:A p.(Pro30Ser) NC_000003.12:39185406:G:A p.(Pro30Ser) NC_000003.12:39185406:G:A Identity +NM_002907.4:c.1882G>A NP_002898.2:p.Ala628Thr NC_000012.12:21470261:C:T p.(Ala628Thr) NC_000012.12:21470261:C:T p.(Ala628Thr) NC_000012.12:21470261:C:T Identity +NM_001136138.4:c.1985A>C NP_001129610.1:p.Lys662Thr NC_000001.11:213241496:A:C p.(Lys662Thr) NC_000001.11:213241496:A:C p.(Lys662Thr) NC_000001.11:213241496:A:C Identity +NM_024086.4:c.280G>A NP_076991.3:p.Gly94Ser NC_000017.11:2477733:C:T p.(Gly94Ser) NC_000017.11:2477733:C:T p.(Gly94Ser) NC_000017.11:2477733:C:T Identity +NM_203293.3:c.981G>T NP_976038.1:p.Lys327Asn NC_000005.10:181198696:C:A p.(Lys327Asn) NC_000005.10:181198696:C:A p.(Lys327Asn) NC_000005.10:181198696:C:A Identity +NM_170743.4:c.302G>A NP_734464.1:p.Arg101Gln NC_000001.11:24169481:C:T p.(Arg101Gln) NC_000001.11:24169481:C:T p.(Arg101Gln) NC_000001.11:24169481:C:T Identity +NM_001330692.2:c.688C>T NP_001317621.1:p.Arg230Trp NC_000001.11:151266036:C:T p.(Arg230Trp) NC_000001.11:151266036:C:T p.(Arg230Trp) NC_000001.11:151266036:C:T Identity +NM_000715.4:c.1144C>A NP_000706.1:p.Arg382Ser NC_000001.11:207134462:C:A p.(Arg382Ser) NC_000001.11:207134462:C:A p.(Arg382Ser) NC_000001.11:207134462:C:A Identity +NM_001142725.2:c.1526T>G NP_001136197.1:p.Phe509Cys NC_000016.10:20798273:A:C p.(Phe509Cys) NC_000016.10:20798273:A:C p.(Phe509Cys) NC_000016.10:20798273:A:C Identity +NM_001348027.2:c.686G>A NP_001334956.1:p.Arg229Lys NC_000019.10:15458631:C:T p.(Arg229Lys) NC_000019.10:15458631:C:T p.(Arg229Lys) NC_000019.10:15458631:C:T Identity +NM_015395.3:c.2483G>C NP_056210.1:p.Arg828Pro NC_000007.14:98228043:C:G p.(Arg828Pro) NC_000007.14:98228043:C:G p.(Arg828Pro) NC_000007.14:98228043:C:G Identity +NM_153366.4:c.5171G>A NP_699197.3:p.Gly1724Asp NC_000009.12:110432523:C:T p.(Gly1724Asp) NC_000009.12:110432523:C:T p.(Gly1724Asp) NC_000009.12:110432523:C:T Identity +NM_000790.4:c.674C>A NP_000781.2:p.Ala225Asp NC_000007.14:50528176:G:T p.(Ala225Asp) NC_000007.14:50528176:G:T p.(Ala225Asp) NC_000007.14:50528176:G:T Identity +NM_001168360.1:c.3428C>T NP_001161832.1:p.Ala1143Val NC_000023.11:92618347:C:T p.(Ala1143Val) NC_000023.11:92618347:C:T p.(Ala1143Val) NC_000023.11:92618347:C:T Identity +NM_007127.3:c.908C>T NP_009058.2:p.Ala303Val NC_000002.12:218429906:C:T p.(Ala303Val) NC_000002.12:218429906:C:T p.(Ala303Val) NC_000002.12:218429906:C:T Identity +NM_138961.3:c.1115G>A NP_620411.2:p.Arg372His NC_000011.10:124753703:C:T p.(Arg372His) NC_000011.10:124753703:C:T p.(Arg372His) NC_000011.10:124753703:C:T Identity +NM_001101667.2:c.766C>A NP_001095137.1:p.Leu256Met NC_000004.12:8405964:G:T p.(Leu256Met) NC_000004.12:8405964:G:T p.(Leu256Met) NC_000004.12:8405964:G:T Identity +NM_032521.3:c.665A>G NP_115910.1:p.Glu222Gly NC_000020.11:50750033:A:G p.(Glu222Gly) NC_000020.11:50750033:A:G p.(Glu222Gly) NC_000020.11:50750033:A:G Identity +NM_001093.4:c.2501C>G NP_001084.3:p.Thr834Ser NC_000012.12:109197026:C:G p.(Thr834Ser) NC_000012.12:109197026:C:G p.(Thr834Ser) NC_000012.12:109197026:C:G Identity +NM_001286514.2:c.2567G>A NP_001273443.1:p.Arg856Lys NC_000012.12:14460905:G:A p.(Arg856Lys) NC_000012.12:14460905:G:A p.(Arg856Lys) NC_000012.12:14460905:G:A Identity +NM_005165.3:c.911G>A NP_005156.1:p.Arg304His NC_000017.11:28573822:C:T p.(Arg304His) NC_000017.11:28573822:C:T p.(Arg304His) NC_000017.11:28573822:C:T Identity +NM_001163817.2:c.76C>G NP_001157289.1:p.Gln26Glu NC_000011.10:71444876:G:C p.(Gln26Glu) NC_000011.10:71444876:G:C p.(Gln26Glu) NC_000011.10:71444876:G:C Identity +NM_000296.4:c.911G>T NP_000287.4:p.Arg304Leu NC_000016.10:2118080:C:A p.(Arg304Leu) NC_000016.10:2118080:C:A p.(Arg304Leu) NC_000016.10:2118080:C:A Identity +NM_002204.4:c.427C>T NP_002195.1:p.Arg143Cys NC_000017.11:50068067:C:T p.(Arg143Cys) NC_000017.11:50068067:C:T p.(Arg143Cys) NC_000017.11:50068067:C:T Identity +NM_001159629.2:c.613C>G NP_001153101.1:p.Pro205Ala NC_000015.10:50197633:C:G p.(Pro205Ala) NC_000015.10:50197633:C:G p.(Pro205Ala) NC_000015.10:50197633:C:G Identity +NM_001385034.1:c.2665G>A NP_001371963.1:p.Asp889Asn NC_000020.11:53576098:C:T p.(Asp889Asn) NC_000020.11:53576098:C:T p.(Asp889Asn) NC_000020.11:53576098:C:T Identity +NM_001134473.3:c.754G>A NP_001127945.1:p.Glu252Lys NC_000016.10:85656418:G:A p.(Glu252Lys) NC_000016.10:85656418:G:A p.(Glu252Lys) NC_000016.10:85656418:G:A Identity +NM_001323614.2:c.2798G>T NP_001310543.1:p.Gly933Val NC_000001.11:156250867:C:A p.(Gly933Val) NC_000001.11:156250867:C:A p.(Gly933Val) NC_000001.11:156250867:C:A Identity +NM_001079533.2:c.712G>A NP_001073001.1:p.Val238Met NC_000015.10:82553913:C:T p.(Val238Met) NC_000015.10:82553913:C:T p.(Val238Met) NC_000015.10:82553913:C:T Identity +NM_001143804.2:c.557G>T NP_001137276.1:p.Arg186Leu NC_000017.11:49224567:C:A p.(Arg186Leu) NC_000017.11:49224567:C:A p.(Arg186Leu) NC_000017.11:49224567:C:A Identity +NM_001171080.2:c.569A>G NP_001164551.1:p.Glu190Gly NC_000023.11:107088793:T:C p.(Glu190Gly) NC_000023.11:107088793:T:C p.(Glu190Gly) NC_000023.11:107088793:T:C Identity +NM_001037144.7:c.1476C>G NP_001032221.1:p.His492Gln NC_000017.11:7944152:C:G p.(His492Gln) NC_000017.11:7944152:C:G p.(His492Gln) NC_000017.11:7944152:C:G Identity +NM_001270380.3:c.1378C>T NP_001257309.1:p.Arg460Cys NC_000011.10:74848179:G:A p.(Arg460Cys) NC_000011.10:74848179:G:A p.(Arg460Cys) NC_000011.10:74848179:G:A Identity +NM_001346425.2:c.1183G>A NP_001333354.1:p.Ala395Thr NC_000005.10:134146237:G:A p.(Ala395Thr) NC_000005.10:134146237:G:A p.(Ala395Thr) NC_000005.10:134146237:G:A Identity +NM_000827.4:c.2579C>T NP_000818.2:p.Pro860Leu NC_000005.10:153811082:C:T p.(Pro860Leu) NC_000005.10:153811082:C:T p.(Pro860Leu) NC_000005.10:153811082:C:T Identity +NM_001351226.2:c.481G>A NP_001338155.1:p.Ala161Thr NC_000012.12:130451217:C:T p.(Ala161Thr) NC_000012.12:130451217:C:T p.(Ala161Thr) NC_000012.12:130451217:C:T Identity +NM_001039457.3:c.245G>A NP_001034546.1:p.Arg82Gln NC_000001.11:43976809:G:A p.(Arg82Gln) NC_000001.11:43976809:G:A p.(Arg82Gln) NC_000001.11:43976809:G:A Identity +NM_014712.3:c.811A>C NP_055527.1:p.Thr271Pro NC_000016.10:30964264:A:C p.(Thr271Pro) NC_000016.10:30964264:A:C p.(Thr271Pro) NC_000016.10:30964264:A:C Identity +NM_001168235.2:c.2912T>C NP_001161707.1:p.Val971Ala NC_000004.12:143697763:A:G p.(Val971Ala) NC_000004.12:143697763:A:G p.(Val971Ala) NC_000004.12:143697763:A:G Identity +NM_001033667.3:c.98A>C NP_001028839.1:p.Gln33Pro NC_000001.11:160796284:A:C p.(Gln33Pro) NC_000001.11:160796284:A:C p.(Gln33Pro) NC_000001.11:160796284:A:C Identity +NM_001256134.2:c.260A>C NP_001243063.1:p.Tyr87Ser NC_000013.11:113160136:A:C p.(Tyr87Ser) NC_000013.11:113160136:A:C p.(Tyr87Ser) NC_000013.11:113160136:A:C Identity +NM_001082533.1:c.536T>G NP_001076002.1:p.Leu179Trp NC_000017.11:51653665:A:C p.(Leu179Trp) NC_000017.11:51653665:A:C p.(Leu179Trp) NC_000017.11:51653665:A:C Identity +NM_000638.4:c.293T>C NP_000629.3:p.Leu98Pro NC_000017.11:28369742:A:G p.(Leu98Pro) NC_000017.11:28369742:A:G p.(Leu98Pro) NC_000017.11:28369742:A:G Identity +NM_001172774.2:c.1016A>G NP_001166245.1:p.Asn339Ser NC_000019.10:32454966:A:G p.(Asn339Ser) NC_000019.10:32454966:A:G p.(Asn339Ser) NC_000019.10:32454966:A:G Identity +NM_001367759.1:c.223A>G NP_001354688.1:p.Met75Val NC_000006.12:121321726:T:C p.(Met75Val) NC_000006.12:121321726:T:C p.(Met75Val) NC_000006.12:121321726:T:C Identity +NM_005092.4:c.28C>A NP_005083.3:p.Pro10Thr NC_000001.11:173050868:G:T p.(Pro10Thr) NC_000001.11:173050868:G:T p.(Pro10Thr) NC_000001.11:173050868:G:T Identity +NM_018484.4:c.1289G>A NP_060954.1:p.Arg430His NC_000011.10:64568684:G:A p.(Arg430His) NC_000011.10:64568684:G:A p.(Arg430His) NC_000011.10:64568684:G:A Identity +NM_001145312.3:c.437C>T NP_001138784.1:p.Ala146Val NC_000001.11:157125942:G:A p.(Ala146Val) NC_000001.11:157125942:G:A p.(Ala146Val) NC_000001.11:157125942:G:A Identity +NM_001042603.3:c.4298C>T NP_001036068.1:p.Pro1433Leu NC_000012.12:295729:G:A p.(Pro1433Leu) NC_000012.12:295729:G:A p.(Pro1433Leu) NC_000012.12:295729:G:A Identity +NM_014603.3:c.664G>A NP_055418.2:p.Ala222Thr NC_000017.11:75003339:G:A p.(Ala222Thr) NC_000017.11:75003339:G:A p.(Ala222Thr) NC_000017.11:75003339:G:A Identity +NM_001164595.2:c.955C>A NP_001158067.1:p.Pro319Thr NC_000012.12:41506566:C:A p.(Pro319Thr) NC_000012.12:41506566:C:A p.(Pro319Thr) NC_000012.12:41506566:C:A Identity +NM_001206999.2:c.3030C>G NP_001193928.1:p.Phe1010Leu NC_000012.12:119735285:G:C p.(Phe1010Leu) NC_000012.12:119735285:G:C p.(Phe1010Leu) NC_000012.12:119735285:G:C Identity +NM_001330688.2:c.716A>G NP_001317617.1:p.His239Arg NC_000003.12:19918302:T:C p.(His239Arg) NC_000003.12:19918302:T:C p.(His239Arg) NC_000003.12:19918302:T:C Identity +NM_001365819.1:c.3220T>A NP_001352748.1:p.Tyr1074Asn NC_000022.11:50460337:A:T p.(Tyr1074Asn) NC_000022.11:50460337:A:T p.(Tyr1074Asn) NC_000022.11:50460337:A:T Identity +NM_001366661.1:c.1129G>A NP_001353590.1:p.Ala377Thr NC_000017.11:2700721:C:T p.(Ala377Thr) NC_000017.11:2700721:C:T p.(Ala377Thr) NC_000017.11:2700721:C:T Identity +NM_001101672.2:c.1669G>A NP_001095142.1:p.Gly557Ser NC_000014.9:21091035:C:T p.(Gly557Ser) NC_000014.9:21091035:C:T p.(Gly557Ser) NC_000014.9:21091035:C:T Identity +NM_001166222.2:c.2765C>T NP_001159694.1:p.Ala922Val NC_000011.10:67424512:C:T p.(Ala922Val) NC_000011.10:67424512:C:T p.(Ala922Val) NC_000011.10:67424512:C:T Identity +NM_000339.3:c.923C>T NP_000330.3:p.Pro308Leu NC_000016.10:56872420:C:T p.(Pro308Leu) NC_000016.10:56872420:C:T p.(Pro308Leu) NC_000016.10:56872420:C:T Identity +NM_000121.4:c.1010G>A NP_000112.1:p.Arg337His NC_000019.10:11378500:C:T p.(Arg337His) NC_000019.10:11378500:C:T p.(Arg337His) NC_000019.10:11378500:C:T Identity +NM_001385619.1:c.4385C>G NP_001372548.1:p.Thr1462Arg NC_000005.10:124641316:G:C p.(Thr1462Arg) NC_000005.10:124641316:G:C p.(Thr1462Arg) NC_000005.10:124641316:G:C Identity +NM_001144889.2:c.1210G>A NP_001138361.1:p.Val404Met NC_000002.12:219164295:C:T p.(Val404Met) NC_000002.12:219164295:C:T p.(Val404Met) NC_000002.12:219164295:C:T Identity +NM_001287532.2:c.514G>A NP_001274461.1:p.Glu172Lys NC_000007.14:65398723:G:A p.(Glu172Lys) NC_000007.14:65398723:G:A p.(Glu172Lys) NC_000007.14:65398723:G:A Identity +NM_001080437.3:c.1588G>A NP_001073906.1:p.Val530Ile NC_000002.12:241049104:G:A p.(Val530Ile) NC_000002.12:241049104:G:A p.(Val530Ile) NC_000002.12:241049104:G:A Identity +NM_019071.3:c.622C>A NP_061944.2:p.Leu208Met NC_000007.14:120967998:C:A p.(Leu208Met) NC_000007.14:120967998:C:A p.(Leu208Met) NC_000007.14:120967998:C:A Identity +NM_001042481.3:c.661G>A NP_001035946.1:p.Val221Ile NC_000014.9:51708203:G:A p.(Val221Ile) NC_000014.9:51708203:G:A p.(Val221Ile) NC_000014.9:51708203:G:A Identity +NM_015346.4:c.7306G>A NP_056161.2:p.Ala2436Thr NC_000014.9:67752408:C:T p.(Ala2436Thr) NC_000014.9:67752408:C:T p.(Ala2436Thr) NC_000014.9:67752408:C:T Identity +NM_033225.6:c.6746A>G NP_150094.5:p.Asn2249Ser NC_000008.11:3108610:T:C p.(Asn2249Ser) NC_000008.11:3108610:T:C p.(Asn2249Ser) NC_000008.11:3108610:T:C Identity +NM_001013641.3:c.734C>T NP_001013663.1:p.Thr245Met NC_000001.11:15744556:C:T p.(Thr245Met) NC_000001.11:15744556:C:T p.(Thr245Met) NC_000001.11:15744556:C:T Identity +NM_001363823.2:c.598G>A NP_001350752.1:p.Val200Ile NC_000002.12:32098809:G:A p.(Val200Ile) NC_000002.12:32098809:G:A p.(Val200Ile) NC_000002.12:32098809:G:A Identity +NM_000094.4:c.3653A>T NP_000085.1:p.Asp1218Val NC_000003.12:48586143:T:A p.(Asp1218Val) NC_000003.12:48586143:T:A p.(Asp1218Val) NC_000003.12:48586143:T:A Identity +NM_001330216.2:c.214G>A NP_001317145.1:p.Ala72Thr NC_000017.11:41968337:G:A p.(Ala72Thr) NC_000017.11:41968337:G:A p.(Ala72Thr) NC_000017.11:41968337:G:A Identity +NM_001098816.3:c.2713G>A NP_001092286.2:p.Asp905Asn NC_000011.10:78756847:C:T p.(Asp905Asn) NC_000011.10:78756847:C:T p.(Asp905Asn) NC_000011.10:78756847:C:T Identity +NM_001244856.2:c.641G>A NP_001231785.1:p.Arg214Lys NC_000019.10:7729886:C:T p.(Arg214Lys) NC_000019.10:7729886:C:T p.(Arg214Lys) NC_000019.10:7729886:C:T Identity +NM_001195833.2:c.71A>G NP_001182762.1:p.Asn24Ser NC_000019.10:38876469:T:C p.(Asn24Ser) NC_000019.10:38876469:T:C p.(Asn24Ser) NC_000019.10:38876469:T:C Identity +NM_006099.3:c.1319A>T NP_006090.2:p.Glu440Val NC_000001.11:145850899:T:A p.(Glu440Val) NC_000001.11:145850899:T:A p.(Glu440Val) NC_000001.11:145850899:T:A Identity +NM_020299.5:c.803C>A NP_064695.3:p.Ala268Glu NC_000007.14:134538254:C:A p.(Ala268Glu) NC_000007.14:134538254:C:A p.(Ala268Glu) NC_000007.14:134538254:C:A Identity +NM_001146175.2:c.757T>C NP_001139647.1:p.Phe253Leu NC_000019.10:8511733:A:G p.(Phe253Leu) NC_000019.10:8511733:A:G p.(Phe253Leu) NC_000019.10:8511733:A:G Identity +NM_001288732.2:c.1595G>A NP_001275661.1:p.Arg532Gln NC_000017.11:64212622:C:T p.(Arg532Gln) NC_000017.11:64212622:C:T p.(Arg532Gln) NC_000017.11:64212622:C:T Identity +NM_001205319.1:c.838C>G NP_001192248.1:p.Leu280Val NC_000017.11:801094:G:C p.(Leu280Val) NC_000017.11:801094:G:C p.(Leu280Val) NC_000017.11:801094:G:C Identity +NM_015688.2:c.2834G>A NP_056503.1:p.Arg945Gln NC_000004.12:17635063:C:T p.(Arg945Gln) NC_000004.12:17635063:C:T p.(Arg945Gln) NC_000004.12:17635063:C:T Identity +NM_001278585.2:c.1943C>G NP_001265514.1:p.Thr648Arg NC_000004.12:47626464:G:C p.(Thr648Arg) NC_000004.12:47626464:G:C p.(Thr648Arg) NC_000004.12:47626464:G:C Identity +NM_000173.7:c.1243T>A NP_000164.5:p.Ser415Thr NC_000017.11:4933846:T:A p.(Ser415Thr) NC_000017.11:4933846:T:A p.(Ser415Thr) NC_000017.11:4933846:T:A Identity +NM_173689.7:c.2798T>G NP_775960.4:p.Val933Gly NC_000009.12:123373328:T:G p.(Val933Gly) NC_000009.12:123373328:T:G p.(Val933Gly) NC_000009.12:123373328:T:G Identity +NM_001135823.1:c.32G>A NP_001129295.1:p.Arg11Gln NC_000012.12:26224353:G:A p.(Arg11Gln) NC_000012.12:26224353:G:A p.(Arg11Gln) NC_000012.12:26224353:G:A Identity +NM_005245.4:c.6842C>T NP_005236.2:p.Pro2281Leu NC_000004.12:186619743:G:A p.(Pro2281Leu) NC_000004.12:186619743:G:A p.(Pro2281Leu) NC_000004.12:186619743:G:A Identity +NM_025074.7:c.9845A>G NP_079350.5:p.Lys3282Arg NC_000004.12:78511337:A:G p.(Lys3282Arg) NC_000004.12:78511337:A:G p.(Lys3282Arg) NC_000004.12:78511337:A:G Identity +NM_005061.3:c.185G>A NP_005052.1:p.Arg62Gln NC_000016.10:1953966:C:T p.(Arg62Gln) NC_000016.10:1953966:C:T p.(Arg62Gln) NC_000016.10:1953966:C:T Identity +NM_001308225.2:c.356A>T NP_001295154.1:p.Asn119Ile NC_000018.10:25226901:T:A p.(Asn119Ile) NC_000018.10:25226901:T:A p.(Asn119Ile) NC_000018.10:25226901:T:A Identity +NM_001410984.1:c.2621C>T NP_001397913.1:p.Thr874Ile NC_000012.12:112967501:C:T p.(Thr874Ile) NC_000012.12:112967501:C:T p.(Thr874Ile) NC_000012.12:112967501:C:T Identity +NM_017491.5:c.149T>G NP_059830.1:p.Leu50Arg NC_000004.12:10103975:A:C p.(Leu50Arg) NC_000004.12:10103975:A:C p.(Leu50Arg) NC_000004.12:10103975:A:C Identity +NM_000720.4:c.6059T>C NP_000711.1:p.Leu2020Pro NC_000003.12:53810104:T:C p.(Leu2020Pro) NC_000003.12:53810104:T:C p.(Leu2020Pro) NC_000003.12:53810104:T:C Identity +NM_001122769.3:c.101G>A NP_001116241.1:p.Gly34Asp NC_000006.12:79518793:C:T p.(Gly34Asp) NC_000006.12:79518793:C:T p.(Gly34Asp) NC_000006.12:79518793:C:T Identity +NM_001135110.3:c.1255C>T NP_001128582.1:p.Arg419Trp NC_000016.10:4450412:C:T p.(Arg419Trp) NC_000016.10:4450412:C:T p.(Arg419Trp) NC_000016.10:4450412:C:T Identity +NM_001164690.2:c.745C>A NP_001158162.1:p.Leu249Ile NC_000012.12:53425811:C:A p.(Leu249Ile) NC_000012.12:53425811:C:A p.(Leu249Ile) NC_000012.12:53425811:C:A Identity +NM_001134771.2:c.3170G>T NP_001128243.1:p.Ser1057Ile NC_000020.11:46056554:G:T p.(Ser1057Ile) NC_000020.11:46056554:G:T p.(Ser1057Ile) NC_000020.11:46056554:G:T Identity +NM_001139488.2:c.856A>C NP_001132960.1:p.Asn286His NC_000002.12:33527184:A:C p.(Asn286His) NC_000002.12:33527184:A:C p.(Asn286His) NC_000002.12:33527184:A:C Identity +NM_001278683.1:c.1588G>T NP_001265612.1:p.Ala530Ser NC_000003.12:134361672:C:A p.(Ala530Ser) NC_000003.12:134361672:C:A p.(Ala530Ser) NC_000003.12:134361672:C:A Identity +NM_001194946.2:c.4298T>G NP_001181875.2:p.Leu1433Arg NC_000003.12:184331487:T:G p.(Leu1433Arg) NC_000003.12:184331487:T:G p.(Leu1433Arg) NC_000003.12:184331487:T:G Identity +NM_001270407.2:c.544A>G NP_001257336.1:p.Asn182Asp NC_000021.9:25702223:A:G p.(Asn182Asp) NC_000021.9:25702223:A:G p.(Asn182Asp) NC_000021.9:25702223:A:G Identity +NM_014330.5:c.1014C>G NP_055145.3:p.Phe338Leu NC_000019.10:48874246:C:G p.(Phe338Leu) NC_000019.10:48874246:C:G p.(Phe338Leu) NC_000019.10:48874246:C:G Identity +NM_001372.4:c.3269G>A NP_001363.2:p.Arg1090Gln NC_000017.11:11669709:G:A p.(Arg1090Gln) NC_000017.11:11669709:G:A p.(Arg1090Gln) NC_000017.11:11669709:G:A Identity +NM_015658.4:c.1280C>T NP_056473.3:p.Ala427Val NC_000001.11:952050:G:A p.(Ala427Val) NC_000001.11:952050:G:A p.(Ala427Val) NC_000001.11:952050:G:A Identity +NM_001200049.3:c.6568C>T NP_001186978.2:p.Pro2190Ser NC_000010.11:132836186:G:A p.(Pro2190Ser) NC_000010.11:132836186:G:A p.(Pro2190Ser) NC_000010.11:132836186:G:A Identity +NM_001286606.2:c.58G>A NP_001273535.1:p.Glu20Lys NC_000011.10:828664:G:A p.(Glu20Lys) NC_000011.10:828664:G:A p.(Glu20Lys) NC_000011.10:828664:G:A Identity +NM_017647.4:c.359C>T NP_060117.3:p.Pro120Leu NC_000017.11:63825576:G:A p.(Pro120Leu) NC_000017.11:63825576:G:A p.(Pro120Leu) NC_000017.11:63825576:G:A Identity +NM_001031683.4:c.322G>A NP_001026853.1:p.Gly108Ser NC_000010.11:89338976:G:A p.(Gly108Ser) NC_000010.11:89338976:G:A p.(Gly108Ser) NC_000010.11:89338976:G:A Identity +NM_001278694.2:c.238T>C NP_001265623.1:p.Tyr80His NC_000014.9:105051898:A:G p.(Tyr80His) NC_000014.9:105051898:A:G p.(Tyr80His) NC_000014.9:105051898:A:G Identity +NM_001282798.2:c.725T>C NP_001269727.1:p.Ile242Thr NC_000002.12:135635915:T:C p.(Ile242Thr) NC_000002.12:135635915:T:C p.(Ile242Thr) NC_000002.12:135635915:T:C Identity +NM_001258017.2:c.304G>A NP_001244946.1:p.Asp102Asn NC_000019.10:49895828:C:T p.(Asp102Asn) NC_000019.10:49895828:C:T p.(Asp102Asn) NC_000019.10:49895828:C:T Identity +NM_018557.3:c.6970G>T NP_061027.2:p.Ala2324Ser NC_000002.12:140601468:C:A p.(Ala2324Ser) NC_000002.12:140601468:C:A p.(Ala2324Ser) NC_000002.12:140601468:C:A Identity +NM_001375300.1:c.109C>T NP_001362229.1:p.Pro37Ser NC_000003.12:142963227:G:A p.(Pro37Ser) NC_000003.12:142963227:G:A p.(Pro37Ser) NC_000003.12:142963227:G:A Identity +NM_016378.3:c.104C>A NP_057462.2:p.Thr35Asn NC_000023.11:8170347:G:T p.(Thr35Asn) NC_000023.11:8170347:G:T p.(Thr35Asn) NC_000023.11:8170347:G:T Identity +NM_007156.5:c.1100A>G NP_009087.1:p.Glu367Gly NC_000023.11:57909320:T:C p.(Glu367Gly) NC_000023.11:57909320:T:C p.(Glu367Gly) NC_000023.11:57909320:T:C Identity +NM_001034850.3:c.1237G>A NP_001030022.1:p.Ala413Thr NC_000005.10:16474997:C:T p.(Ala413Thr) NC_000005.10:16474997:C:T p.(Ala413Thr) NC_000005.10:16474997:C:T Identity +NM_016333.4:c.7904C>A NP_057417.3:p.Ser2635Tyr NC_000016.10:2769166:C:A p.(Ser2635Tyr) NC_000016.10:2769166:C:A p.(Ser2635Tyr) NC_000016.10:2769166:C:A Identity +NM_014566.1:c.525C>A NP_055381.1:p.His175Gln NC_000017.11:3063082:G:T p.(His175Gln) NC_000017.11:3063082:G:T p.(His175Gln) NC_000017.11:3063082:G:T Identity +NM_001024683.2:c.263G>A NP_001019854.1:p.Arg88Gln NC_000016.10:30571014:C:T p.(Arg88Gln) NC_000016.10:30571014:C:T p.(Arg88Gln) NC_000016.10:30571014:C:T Identity +NM_001330769.1:c.1171C>T NP_001317698.1:p.Arg391Cys NC_000012.12:18683315:G:A p.(Arg391Cys) NC_000012.12:18683315:G:A p.(Arg391Cys) NC_000012.12:18683315:G:A Identity +NM_001164741.2:c.2438T>C NP_001158213.1:p.Leu813Pro NC_000023.11:153909836:A:G p.(Leu813Pro) NC_000023.11:153909836:A:G p.(Leu813Pro) NC_000023.11:153909836:A:G Identity +NM_000680.4:c.673G>C NP_000671.2:p.Asp225His NC_000008.11:26864296:C:G p.(Asp225His) NC_000008.11:26864296:C:G p.(Asp225His) NC_000008.11:26864296:C:G Identity +NM_001105203.2:c.340C>G NP_001098673.1:p.Pro114Ala NC_000001.11:155322112:C:G p.(Pro114Ala) NC_000001.11:155322112:C:G p.(Pro114Ala) NC_000001.11:155322112:C:G Identity +NM_001415871.1:c.1243G>A NP_001402800.1:p.Glu415Lys NC_000002.12:108749098:G:A p.(Glu415Lys) NC_000002.12:108749098:G:A p.(Glu415Lys) NC_000002.12:108749098:G:A Identity +NM_032273.4:c.136T>C NP_115649.1:p.Cys46Arg NC_000011.10:85654111:T:C p.(Cys46Arg) NC_000011.10:85654111:T:C p.(Cys46Arg) NC_000011.10:85654111:T:C Identity +NM_001098673.2:c.500A>G NP_001092143.1:p.Lys167Arg NC_000012.12:52077032:A:G p.(Lys167Arg) NC_000012.12:52077032:A:G p.(Lys167Arg) NC_000012.12:52077032:A:G Identity +NM_004716.4:c.635A>G NP_004707.2:p.Asn212Ser NC_000011.10:117227290:T:C p.(Asn212Ser) NC_000011.10:117227290:T:C p.(Asn212Ser) NC_000011.10:117227290:T:C Identity +NM_001317915.2:c.596C>T NP_001304844.1:p.Thr199Ile NC_000005.10:58851268:C:T p.(Thr199Ile) NC_000005.10:58851268:C:T p.(Thr199Ile) NC_000005.10:58851268:C:T Identity +NM_175571.4:c.146G>T NP_783161.1:p.Cys49Phe NC_000007.14:150466843:G:T p.(Cys49Phe) NC_000007.14:150466843:G:T p.(Cys49Phe) NC_000007.14:150466843:G:T Identity +NM_000404.4:c.1238A>G NP_000395.3:p.Tyr413Cys NC_000003.12:33018556:T:C p.(Tyr413Cys) NC_000003.12:33018556:T:C p.(Tyr413Cys) NC_000003.12:33018556:T:C Identity +NM_001134.3:c.881C>T NP_001125.1:p.Thr294Ile NC_000004.12:73447498:C:T p.(Thr294Ile) NC_000004.12:73447498:C:T p.(Thr294Ile) NC_000004.12:73447498:C:T Identity +NM_173628.4:c.4617C>A NP_775899.3:p.Asn1539Lys NC_000017.11:78507336:G:T p.(Asn1539Lys) NC_000017.11:78507336:G:T p.(Asn1539Lys) NC_000017.11:78507336:G:T Identity +NM_001289158.2:c.451T>C NP_001276087.1:p.Cys151Arg NC_000019.10:14651174:A:G p.(Cys151Arg) NC_000019.10:14651174:A:G p.(Cys151Arg) NC_000019.10:14651174:A:G Identity +NM_001122670.2:c.3463A>T NP_001116142.1:p.Thr1155Ser NC_000023.11:72581171:T:A p.(Thr1155Ser) NC_000023.11:72581171:T:A p.(Thr1155Ser) NC_000023.11:72581171:T:A Identity +NM_001282917.2:c.2087T>C NP_001269846.1:p.Leu696Ser NC_000020.11:38531202:T:C p.(Leu696Ser) NC_000020.11:38531202:T:C p.(Leu696Ser) NC_000020.11:38531202:T:C Identity +NM_001859.4:c.275G>T NP_001850.1:p.Ser92Ile NC_000009.12:113258765:G:T p.(Ser92Ile) NC_000009.12:113258765:G:T p.(Ser92Ile) NC_000009.12:113258765:G:T Identity +NM_001164313.2:c.233T>C NP_001157785.1:p.Met78Thr NC_000006.12:109481793:A:G p.(Met78Thr) NC_000006.12:109481793:A:G p.(Met78Thr) NC_000006.12:109481793:A:G Identity +NM_001318807.3:c.116G>A NP_001305736.1:p.Arg39His NC_000014.9:24307440:C:T p.(Arg39His) NC_000014.9:24307440:C:T p.(Arg39His) NC_000014.9:24307440:C:T Identity +NM_001101667.2:c.185C>T NP_001095137.1:p.Ala62Val NC_000004.12:8415958:G:A p.(Ala62Val) NC_000004.12:8415958:G:A p.(Ala62Val) NC_000004.12:8415958:G:A Identity +NM_001105543.2:c.937G>A NP_001099013.1:p.Ala313Thr NC_000007.14:132507756:C:T p.(Ala313Thr) NC_000007.14:132507756:C:T p.(Ala313Thr) NC_000007.14:132507756:C:T Identity +NM_001387221.1:c.316C>G NP_001374150.1:p.Pro106Ala NC_000016.10:23148954:G:C p.(Pro106Ala) NC_000016.10:23148954:G:C p.(Pro106Ala) NC_000016.10:23148954:G:C Identity +NM_016272.4:c.361G>A NP_057356.1:p.Gly121Ser NC_000022.11:41436984:C:T p.(Gly121Ser) NC_000022.11:41436984:C:T p.(Gly121Ser) NC_000022.11:41436984:C:T Identity +NM_001145638.3:c.223G>A NP_001139110.2:p.Ala75Thr NC_000009.12:136334600:G:A p.(Ala75Thr) NC_000009.12:136334600:G:A p.(Ala75Thr) NC_000009.12:136334600:G:A Identity +NM_080868.3:c.29A>C NP_543144.1:p.Lys10Thr NC_000001.11:75932262:T:G p.(Lys10Thr) NC_000001.11:75932262:T:G p.(Lys10Thr) NC_000001.11:75932262:T:G Identity +NM_001145122.2:c.2010A>G NP_001138594.1:p.Ile670Met NC_000002.12:31176604:T:C p.(Ile670Met) NC_000002.12:31176604:T:C p.(Ile670Met) NC_000002.12:31176604:T:C Identity +NM_152393.4:c.1324T>C NP_689606.2:p.Trp442Arg NC_000003.12:42688619:T:C p.(Trp442Arg) NC_000003.12:42688619:T:C p.(Trp442Arg) NC_000003.12:42688619:T:C Identity +NM_001291476.2:c.124C>T NP_001278405.1:p.His42Tyr NC_000017.11:37632267:G:A p.(His42Tyr) NC_000017.11:37632267:G:A p.(His42Tyr) NC_000017.11:37632267:G:A Identity +NM_001099781.2:c.673G>A NP_001093251.1:p.Glu225Lys NC_000022.11:24232131:C:T p.(Glu225Lys) NC_000022.11:24232131:C:T p.(Glu225Lys) NC_000022.11:24232131:C:T Identity +NM_001370532.1:c.271G>A NP_001357461.1:p.Ala91Thr NC_000009.12:1056379:G:A p.(Ala91Thr) NC_000009.12:1056379:G:A p.(Ala91Thr) NC_000009.12:1056379:G:A Identity +NM_001130527.3:c.2747A>G NP_001123999.1:p.Gln916Arg NC_000017.11:50989712:T:C p.(Gln916Arg) NC_000017.11:50989712:T:C p.(Gln916Arg) NC_000017.11:50989712:T:C Identity +NM_182757.4:c.92A>C NP_877434.2:p.Lys31Thr NC_000006.12:18399625:A:C p.(Lys31Thr) NC_000006.12:18399625:A:C p.(Lys31Thr) NC_000006.12:18399625:A:C Identity +NM_018910.3:c.1306T>C NP_061733.1:p.Trp436Arg NC_000005.10:140835688:T:C p.(Trp436Arg) NC_000005.10:140835688:T:C p.(Trp436Arg) NC_000005.10:140835688:T:C Identity +NM_001267609.1:c.1325C>T NP_001254538.1:p.Thr442Ile NC_000001.11:168087643:G:A p.(Thr442Ile) NC_000001.11:168087643:G:A p.(Thr442Ile) NC_000001.11:168087643:G:A Identity +NM_001017403.2:c.1513G>A NP_001017403.1:p.Glu505Lys NC_000001.11:202310302:G:A p.(Glu505Lys) NC_000001.11:202310302:G:A p.(Glu505Lys) NC_000001.11:202310302:G:A Identity +NM_001243313.2:c.3280C>T NP_001230242.1:p.Arg1094Cys NC_000002.12:218698886:C:T p.(Arg1094Cys) NC_000002.12:218698886:C:T p.(Arg1094Cys) NC_000002.12:218698886:C:T Identity +NM_175871.4:c.313G>A NP_787067.3:p.Glu105Lys NC_000019.10:11375575:G:A p.(Glu105Lys) NC_000019.10:11375575:G:A p.(Glu105Lys) NC_000019.10:11375575:G:A Identity +NM_001310214.3:c.1828T>A NP_001297143.1:p.Cys610Ser NC_000005.10:23526915:T:A ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found +NM_001278647.2:c.964C>T NP_001265576.1:p.Pro322Ser NC_000001.11:6585949:C:T p.(Pro322Ser) NC_000001.11:6585949:C:T p.(Pro322Ser) NC_000001.11:6585949:C:T Identity +NM_172140.2:c.584C>T NP_742152.1:p.Thr195Ile NC_000019.10:39298496:C:T p.(Thr195Ile) NC_000019.10:39298496:C:T p.(Thr195Ile) NC_000019.10:39298496:C:T Identity +NM_004674.5:c.107C>T NP_004665.2:p.Ala36Val NC_000008.11:38105656:C:T p.(Ala36Val) NC_000008.11:38105656:C:T p.(Ala36Val) NC_000008.11:38105656:C:T Identity +NM_001242803.2:c.836C>A NP_001229732.1:p.Ala279Asp NC_000006.12:26452121:C:A p.(Ala279Asp) NC_000006.12:26452121:C:A p.(Ala279Asp) NC_000006.12:26452121:C:A Identity +NM_001386435.1:c.847C>T NP_001373364.1:p.Leu283Phe NC_000003.12:45947327:C:T p.(Leu283Phe) NC_000003.12:45947327:C:T p.(Leu283Phe) NC_000003.12:45947327:C:T Identity +NM_000408.5:c.254C>T NP_000399.3:p.Ala85Val NC_000002.12:156496194:C:T p.(Ala85Val) NC_000002.12:156496194:C:T p.(Ala85Val) NC_000002.12:156496194:C:T Identity +NM_001109903.2:c.785T>C NP_001103373.1:p.Ile262Thr NC_000012.12:116779250:T:C p.(Ile262Thr) NC_000012.12:116779250:T:C p.(Ile262Thr) NC_000012.12:116779250:T:C Identity +NM_000859.3:c.2592A>C NP_000850.1:p.Lys864Asn NC_000005.10:75360118:A:C p.(Lys864Asn) NC_000005.10:75360118:A:C p.(Lys864Asn) NC_000005.10:75360118:A:C Identity +NM_001098623.2:c.13381G>T NP_001092093.2:p.Val4461Leu NC_000001.11:228316803:G:T p.(Val4461Leu) NC_000001.11:228316803:G:T p.(Val4461Leu) NC_000001.11:228316803:G:T Identity +NM_014786.4:c.2804G>A NP_055601.2:p.Arg935Gln NC_000011.10:73311441:G:A p.(Arg935Gln) NC_000011.10:73311441:G:A p.(Arg935Gln) NC_000011.10:73311441:G:A Identity +NM_001286631.2:c.1630G>C NP_001273560.1:p.Val544Leu NC_000013.11:79358347:C:G p.(Val544Leu) NC_000013.11:79358347:C:G p.(Val544Leu) NC_000013.11:79358347:C:G Identity +NM_001134851.4:c.724A>G NP_001128323.2:p.Thr242Ala NC_000005.10:134143633:A:G p.(Thr242Ala) NC_000005.10:134143633:A:G p.(Thr242Ala) NC_000005.10:134143633:A:G Identity +NM_001185099.2:c.605G>A NP_001172028.1:p.Ser202Asn NC_000019.10:35336227:G:A p.(Ser202Asn) NC_000019.10:35336227:G:A p.(Ser202Asn) NC_000019.10:35336227:G:A Identity +NM_001286434.2:c.352G>A NP_001273363.1:p.Val118Ile NC_000015.10:73884872:G:A p.(Val118Ile) NC_000015.10:73884872:G:A p.(Val118Ile) NC_000015.10:73884872:G:A Identity +NM_033404.2:c.409G>A NP_208383.2:p.Val137Met NC_000010.11:133183391:G:A ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.2 not found +NM_080605.4:c.202C>G NP_542172.2:p.Arg68Gly NC_000001.11:1232479:C:G p.(Arg68Gly) NC_000001.11:1232479:C:G p.(Arg68Gly) NC_000001.11:1232479:C:G Identity +NM_001350599.2:c.2929C>T NP_001337528.1:p.His977Tyr NC_000006.12:97168150:G:A p.(His977Tyr) NC_000006.12:97168150:G:A p.(His977Tyr) NC_000006.12:97168150:G:A Identity +NM_001142644.2:c.2438A>T NP_001136116.1:p.Gln813Leu NC_000002.12:228018415:T:A p.(Gln813Leu) NC_000002.12:228018415:T:A p.(Gln813Leu) NC_000002.12:228018415:T:A Identity +NM_178510.2:c.2147C>T NP_848605.1:p.Ala716Val NC_000011.10:113400115:C:T p.(Ala716Val) NC_000011.10:113400115:C:T p.(Ala716Val) NC_000011.10:113400115:C:T Identity +NM_001135212.2:c.474G>A NP_001128684.1:p.Met158Ile NC_000002.12:178469681:C:T p.(Met158Ile) NC_000002.12:178469681:C:T p.(Met158Ile) NC_000002.12:178469681:C:T Identity +NM_024923.4:c.2221G>T NP_079199.2:p.Val741Leu NC_000003.12:13358328:C:A p.(Val741Leu) NC_000003.12:13358328:C:A p.(Val741Leu) NC_000003.12:13358328:C:A Identity +NM_001199189.2:c.199G>A NP_001186118.1:p.Val67Ile NC_000005.10:87408142:C:T p.(Val67Ile) NC_000005.10:87408142:C:T p.(Val67Ile) NC_000005.10:87408142:C:T Identity +NM_021073.4:c.1203A>G NP_066551.1:p.Ile401Met NC_000006.12:55759016:T:C p.(Ile401Met) NC_000006.12:55759016:T:C p.(Ile401Met) NC_000006.12:55759016:T:C Identity +NM_013271.5:c.314T>C NP_037403.1:p.Val105Ala NC_000023.11:48832141:A:G p.(Val105Ala) NC_000023.11:48832141:A:G p.(Val105Ala) NC_000023.11:48832141:A:G Identity +NM_001098536.2:c.192G>T NP_001092006.1:p.Lys64Asn NC_000012.12:6855480:G:T p.(Lys64Asn) NC_000012.12:6855480:G:T p.(Lys64Asn) NC_000012.12:6855480:G:T Identity +NM_020726.5:c.302T>A NP_065777.1:p.Val101Glu NC_000005.10:65762959:T:A p.(Val101Glu) NC_000005.10:65762959:T:A p.(Val101Glu) NC_000005.10:65762959:T:A Identity +NM_001370153.1:c.631G>C NP_001357082.1:p.Gly211Arg NC_000010.11:48725919:G:C p.(Gly211Arg) NC_000010.11:48725919:G:C p.(Gly211Arg) NC_000010.11:48725919:G:C Identity +NM_004496.5:c.1361C>T NP_004487.2:p.Ala454Val NC_000014.9:37591422:G:A p.(Ala454Val) NC_000014.9:37591422:G:A p.(Ala454Val) NC_000014.9:37591422:G:A Identity +NM_001204344.1:c.164T>A NP_001191273.1:p.Phe55Tyr NC_000009.12:114790866:A:T p.(Phe55Tyr) NC_000009.12:114790866:A:T p.(Phe55Tyr) NC_000009.12:114790866:A:T Identity +NM_003786.4:c.3832C>T NP_003777.2:p.Arg1278Cys NC_000017.11:50683633:C:T p.(Arg1278Cys) NC_000017.11:50683633:C:T p.(Arg1278Cys) NC_000017.11:50683633:C:T Identity +NM_000625.4:c.341C>A NP_000616.3:p.Ser114Tyr NC_000017.11:27787803:G:T p.(Ser114Tyr) NC_000017.11:27787803:G:T p.(Ser114Tyr) NC_000017.11:27787803:G:T Identity +NM_206880.2:c.68C>T NP_996763.1:p.Thr23Ile NC_000005.10:181155009:C:T p.(Thr23Ile) NC_000005.10:181155009:C:T p.(Thr23Ile) NC_000005.10:181155009:C:T Identity +NM_016350.5:c.3571G>A NP_057434.4:p.Glu1191Lys NC_000014.9:50738204:C:T p.(Glu1191Lys) NC_000014.9:50738204:C:T p.(Glu1191Lys) NC_000014.9:50738204:C:T Identity +NM_004542.4:c.73G>A NP_004533.1:p.Val25Ile NC_000019.10:54103175:G:A p.(Val25Ile) NC_000019.10:54103175:G:A p.(Val25Ile) NC_000019.10:54103175:G:A Identity +NM_022463.5:c.250C>T NP_071908.2:p.Arg84Trp NC_000017.11:979428:G:A p.(Arg84Trp) NC_000017.11:979428:G:A p.(Arg84Trp) NC_000017.11:979428:G:A Identity +NM_001195573.1:c.302A>G NP_001182502.1:p.Asn101Ser NC_000014.9:95132519:T:C p.(Asn101Ser) NC_000014.9:95132519:T:C p.(Asn101Ser) NC_000014.9:95132519:T:C Identity +NM_133448.3:c.792G>T NP_597705.2:p.Leu264Phe NC_000012.12:129699985:C:A p.(Leu264Phe) NC_000012.12:129699985:C:A p.(Leu264Phe) NC_000012.12:129699985:C:A Identity +NM_001005177.3:c.664G>A NP_001005177.3:p.Val222Met NC_000011.10:4803716:C:T p.(Val222Met) NC_000011.10:4803716:C:T p.(Val222Met) NC_000011.10:4803716:C:T Identity +NM_024574.4:c.976G>A NP_078850.3:p.Ala326Thr NC_000004.12:121036994:C:T p.(Ala326Thr) NC_000004.12:121036994:C:T p.(Ala326Thr) NC_000004.12:121036994:C:T Identity +NM_002216.3:c.2354G>T NP_002207.2:p.Gly785Val NC_000010.11:7744225:G:T p.(Gly785Val) NC_000010.11:7744225:G:T p.(Gly785Val) NC_000010.11:7744225:G:T Identity +NM_170725.3:c.130A>G NP_733843.1:p.Ile44Val NC_000001.11:248916713:A:G p.(Ile44Val) NC_000001.11:248916713:A:G p.(Ile44Val) NC_000001.11:248916713:A:G Identity +NM_198834.3:c.5662G>A NP_942131.1:p.Ala1888Thr NC_000017.11:37149880:C:T p.(Ala1888Thr) NC_000017.11:37149880:C:T p.(Ala1888Thr) NC_000017.11:37149880:C:T Identity +NM_000283.4:c.2437G>A NP_000274.3:p.Glu813Lys NC_000004.12:667939:G:A p.(Glu813Lys) NC_000004.12:667939:G:A p.(Glu813Lys) NC_000004.12:667939:G:A Identity +NM_016052.4:c.124A>C NP_057136.2:p.Thr42Pro NC_000001.11:218285439:A:C p.(Thr42Pro) NC_000001.11:218285439:A:C p.(Thr42Pro) NC_000001.11:218285439:A:C Identity +NM_001168251.1:c.1788G>C NP_001161723.1:p.Lys596Asn NC_000013.11:28267396:G:C ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found ERR:AlignmentMapper(tx_ac=NM_001168251.1, alt_ac=NM_001168251.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168251.1, alt_ac=NM_001168251.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found +NM_014468.4:c.601T>C NP_055283.1:p.Ser201Pro NC_000010.11:133240129:T:C p.(Ser201Pro) NC_000010.11:133240129:T:C p.(Ser201Pro) NC_000010.11:133240129:T:C Identity +NM_001289006.2:c.1483C>T NP_001275935.1:p.Leu495Phe NC_000014.9:24189491:G:A p.(Leu495Phe) NC_000014.9:24189491:G:A p.(Leu495Phe) NC_000014.9:24189491:G:A Identity +NM_001371223.1:c.4619C>T NP_001358152.1:p.Ser1540Leu NC_000009.12:37746650:C:T p.(Ser1540Leu) NC_000009.12:37746650:C:T p.(Ser1540Leu) NC_000009.12:37746650:C:T Identity +NM_001270391.2:c.149A>G NP_001257320.1:p.Glu50Gly NC_000004.12:73593588:T:C p.(Glu50Gly) NC_000004.12:73593588:T:C p.(Glu50Gly) NC_000004.12:73593588:T:C Identity +NM_001145396.2:c.1451G>A NP_001138868.1:p.Arg484His NC_000019.10:49465772:G:A p.(Arg484His) NC_000019.10:49465772:G:A p.(Arg484His) NC_000019.10:49465772:G:A Identity +NM_007213.3:c.151T>C NP_009144.1:p.Cys51Arg NC_000023.11:49073836:A:G p.(Cys51Arg) NC_000023.11:49073836:A:G p.(Cys51Arg) NC_000023.11:49073836:A:G Identity +NM_001040712.2:c.931A>G NP_001035802.1:p.Ile311Val NC_000009.12:8521297:T:C p.(Ile311Val) NC_000009.12:8521297:T:C p.(Ile311Val) NC_000009.12:8521297:T:C Identity +NM_004667.6:c.860A>T NP_004658.3:p.His287Leu NC_000015.10:28272944:T:A p.(His287Leu) NC_000015.10:28272944:T:A p.(His287Leu) NC_000015.10:28272944:T:A Identity +NM_001114395.3:c.209G>C NP_001107867.1:p.Gly70Ala NC_000009.12:17135273:G:C p.(Gly70Ala) NC_000009.12:17135273:G:C p.(Gly70Ala) NC_000009.12:17135273:G:C Identity +NM_080283.4:c.1874A>G NP_525022.2:p.Lys625Arg NC_000017.11:69027366:T:C p.(Lys625Arg) NC_000017.11:69027366:T:C p.(Lys625Arg) NC_000017.11:69027366:T:C Identity +NM_001111298.2:c.364G>A NP_001104768.2:p.Ala122Thr NC_000006.12:109431212:C:T p.(Ala122Thr) NC_000006.12:109431212:C:T p.(Ala122Thr) NC_000006.12:109431212:C:T Identity +NM_001085454.2:c.1474C>T NP_001078923.1:p.Leu492Phe NC_000017.11:29576383:G:A p.(Leu492Phe) NC_000017.11:29576383:G:A p.(Leu492Phe) NC_000017.11:29576383:G:A Identity +NM_003736.4:c.2246C>T NP_003727.1:p.Ser749Phe NC_000005.10:141390129:C:T p.(Ser749Phe) NC_000005.10:141390129:C:T p.(Ser749Phe) NC_000005.10:141390129:C:T Identity +NM_001013843.3:c.2573A>G NP_001013865.1:p.Asn858Ser NC_000015.10:58887288:T:C p.(Asn858Ser) NC_000015.10:58887288:T:C p.(Asn858Ser) NC_000015.10:58887288:T:C Identity +NM_001080779.2:c.2394C>A NP_001074248.1:p.His798Gln NC_000017.11:1470306:G:T p.(His798Gln) NC_000017.11:1470306:G:T p.(His798Gln) NC_000017.11:1470306:G:T Identity +NM_020759.3:c.10550G>T NP_065810.2:p.Gly3517Val NC_000015.10:42692127:G:T p.(Gly3517Val) NC_000015.10:42692127:G:T p.(Gly3517Val) NC_000015.10:42692127:G:T Identity +NM_022575.4:c.199G>A NP_072097.2:p.Asp67Asn NC_000020.11:2860109:G:A p.(Asp67Asn) NC_000020.11:2860109:G:A p.(Asp67Asn) NC_000020.11:2860109:G:A Identity +NM_152594.3:c.1330G>A NP_689807.1:p.Gly444Arg NC_000015.10:38351658:G:A p.(Gly444Arg) NC_000015.10:38351658:G:A p.(Gly444Arg) NC_000015.10:38351658:G:A Identity +NM_001146339.2:c.602G>C NP_001139811.1:p.Ser201Thr NC_000019.10:29530122:G:C p.(Ser201Thr) NC_000019.10:29530122:G:C p.(Ser201Thr) NC_000019.10:29530122:G:C Identity +NM_001269040.2:c.1856A>T NP_001255969.1:p.Glu619Val NC_000020.11:57498685:T:A p.(Glu619Val) NC_000020.11:57498685:T:A p.(Glu619Val) NC_000020.11:57498685:T:A Identity +NM_001387439.1:c.68T>G NP_001374368.1:p.Val23Gly NC_000019.10:18896004:A:C p.(Val23Gly) NC_000019.10:18896004:A:C p.(Val23Gly) NC_000019.10:18896004:A:C Identity +NM_001413201.1:c.1096T>C NP_001400130.1:p.Tyr366His NC_000008.11:27879694:A:G p.(Tyr366His) NC_000008.11:27879694:A:G p.(Tyr366His) NC_000008.11:27879694:A:G Identity +NM_001256666.2:c.2990C>G NP_001243595.1:p.Pro997Arg NC_000004.12:2700034:C:G p.(Pro997Arg) NC_000004.12:2700034:C:G p.(Pro997Arg) NC_000004.12:2700034:C:G Identity +NM_004416.3:c.836G>A NP_004407.2:p.Ser279Asn NC_000012.12:113077999:G:A p.(Ser279Asn) NC_000012.12:113077999:G:A p.(Ser279Asn) NC_000012.12:113077999:G:A Identity +NM_052885.4:c.75G>T NP_443117.3:p.Arg25Ser NC_000012.12:40105733:C:A p.(Arg25Ser) NC_000012.12:40105733:C:A p.(Arg25Ser) NC_000012.12:40105733:C:A Identity +NM_003737.4:c.9709T>C NP_003728.1:p.Ser3237Pro NC_000011.10:6621966:A:G p.(Ser3237Pro) NC_000011.10:6621966:A:G p.(Ser3237Pro) NC_000011.10:6621966:A:G Identity +NM_001012446.4:c.367A>G NP_001012448.2:p.Thr123Ala NC_000009.12:35825794:T:C p.(Thr123Ala) NC_000009.12:35825794:T:C p.(Thr123Ala) NC_000009.12:35825794:T:C Identity +NM_001286581.2:c.3680A>C NP_001273510.1:p.His1227Pro NC_000011.10:609135:A:C p.(His1227Pro) NC_000011.10:609135:A:C p.(His1227Pro) NC_000011.10:609135:A:C Identity +NM_170606.3:c.4211T>G NP_733751.2:p.Leu1404Trp NC_000007.14:152199340:A:C p.(Leu1404Trp) NC_000007.14:152199340:A:C p.(Leu1404Trp) NC_000007.14:152199340:A:C Identity +NM_004297.4:c.88A>G NP_004288.1:p.Lys30Glu NC_000009.12:77647705:T:C p.(Lys30Glu) NC_000009.12:77647705:T:C p.(Lys30Glu) NC_000009.12:77647705:T:C Identity +NM_001134878.3:c.353G>A NP_001128350.1:p.Arg118His NC_000003.12:47273564:C:T p.(Arg118His) NC_000003.12:47273564:C:T p.(Arg118His) NC_000003.12:47273564:C:T Identity +NM_033225.6:c.338G>C NP_150094.5:p.Ser113Thr NC_000008.11:4420029:C:G p.(Ser113Thr) NC_000008.11:4420029:C:G p.(Ser113Thr) NC_000008.11:4420029:C:G Identity +NM_025248.3:c.1378C>T NP_079524.2:p.Pro460Ser NC_000017.11:38561784:G:A p.(Pro460Ser) NC_000017.11:38561784:G:A p.(Pro460Ser) NC_000017.11:38561784:G:A Identity +NM_000603.5:c.704G>T NP_000594.2:p.Cys235Phe NC_000007.14:150998567:G:T p.(Cys235Phe) NC_000007.14:150998567:G:T p.(Cys235Phe) NC_000007.14:150998567:G:T Identity +NM_005262.3:c.254A>G NP_005253.3:p.Gln85Arg NC_000016.10:1984471:A:G p.(Gln85Arg) NC_000016.10:1984471:A:G p.(Gln85Arg) NC_000016.10:1984471:A:G Identity +NM_145886.4:c.2473C>T NP_665893.2:p.Arg825Trp NC_000011.10:799815:G:A p.(Arg825Trp) NC_000011.10:799815:G:A p.(Arg825Trp) NC_000011.10:799815:G:A Identity +NM_015657.4:c.4915G>A NP_056472.2:p.Asp1639Asn NC_000002.12:214966862:C:T p.(Asp1639Asn) NC_000002.12:214966862:C:T p.(Asp1639Asn) NC_000002.12:214966862:C:T Identity +NM_001127357.2:c.1872C>G NP_001120829.1:p.His624Gln NC_000007.14:77949691:C:G p.(His624Gln) NC_000007.14:77949691:C:G p.(His624Gln) NC_000007.14:77949691:C:G Identity +NM_001012979.3:c.241G>C NP_001012997.1:p.Glu81Gln NC_000023.11:103274322:C:G p.(Glu81Gln) NC_000023.11:103274322:C:G p.(Glu81Gln) NC_000023.11:103274322:C:G Identity +NM_001102594.3:c.1544G>A NP_001096064.1:p.Gly515Asp NC_000007.14:76503579:G:A p.(Gly515Asp) NC_000007.14:76503579:G:A p.(Gly515Asp) NC_000007.14:76503579:G:A Identity +NM_012352.3:c.572A>T NP_036484.1:p.Asp191Val NC_000017.11:3198089:A:T p.(Asp191Val) NC_000017.11:3198089:A:T p.(Asp191Val) NC_000017.11:3198089:A:T Identity +NM_001293204.1:c.1208G>C NP_001280133.1:p.Gly403Ala NC_000016.10:29841611:G:C p.(Gly403Ala) NC_000016.10:29841611:G:C p.(Gly403Ala) NC_000016.10:29841611:G:C Identity +NM_001346813.1:c.960C>G NP_001333742.1:p.Ser320Arg NC_000006.12:156778888:C:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_002408.4:c.983A>G NP_002399.1:p.Tyr328Cys NC_000014.9:49622250:A:G p.(Tyr328Cys) NC_000014.9:49622250:A:G p.(Tyr328Cys) NC_000014.9:49622250:A:G Identity +NM_001267812.2:c.1669G>T NP_001254741.1:p.Gly557Trp NC_000007.14:100861868:G:T p.(Gly557Trp) NC_000007.14:100861868:G:T p.(Gly557Trp) NC_000007.14:100861868:G:T Identity +NM_001012631.4:c.457T>C NP_001012649.1:p.Cys153Arg NC_000016.10:3069244:T:C p.(Cys153Arg) NC_000016.10:3069244:T:C p.(Cys153Arg) NC_000016.10:3069244:T:C Identity +NM_001195220.2:c.970C>T NP_001182149.1:p.Arg324Trp NC_000007.14:149281671:C:T p.(Arg324Trp) NC_000007.14:149281671:C:T p.(Arg324Trp) NC_000007.14:149281671:C:T Identity +NM_178140.4:c.926G>A NP_835260.2:p.Arg309His NC_000005.10:31983603:G:A p.(Arg309His) NC_000005.10:31983603:G:A p.(Arg309His) NC_000005.10:31983603:G:A Identity +NM_001320941.2:c.443C>A NP_001307870.2:p.Thr148Lys NC_000015.10:78476356:C:A p.(Thr148Lys) NC_000015.10:78476356:C:A p.(Thr148Lys) NC_000015.10:78476356:C:A Identity +NM_001414176.1:c.1201C>G NP_001401105.1:p.Gln401Glu NC_000012.12:6777406:C:G p.(Gln401Glu) NC_000012.12:6777406:C:G p.(Gln401Glu) NC_000012.12:6777406:C:G Identity +NM_001282232.1:c.418G>A NP_001269161.1:p.Val140Ile NC_000014.9:35314426:G:A p.(Val140Ile) NC_000014.9:35314426:G:A p.(Val140Ile) NC_000014.9:35314426:G:A Identity +NM_207308.3:c.5296G>T NP_997191.2:p.Ala1766Ser NC_000001.11:154000945:C:A p.(Ala1766Ser) NC_000001.11:154000945:C:A p.(Ala1766Ser) NC_000001.11:154000945:C:A Identity +NM_018690.4:c.1063G>A NP_061160.3:p.Gly355Arg NC_000016.10:28496103:G:A p.(Gly355Arg) NC_000016.10:28496103:G:A p.(Gly355Arg) NC_000016.10:28496103:G:A Identity +NM_004459.7:c.5564A>G NP_004450.3:p.Lys1855Arg NC_000017.11:67913069:A:G p.(Lys1855Arg) NC_000017.11:67913069:A:G p.(Lys1855Arg) NC_000017.11:67913069:A:G Identity +NM_001323011.3:c.181G>C NP_001309940.1:p.Asp61His NC_000001.11:154929112:C:G p.(Asp61His) NC_000001.11:154929112:C:G p.(Asp61His) NC_000001.11:154929112:C:G Identity +NM_001159484.1:c.3443C>T NP_001152956.1:p.Thr1148Ile NC_000001.11:154054267:G:A p.(Thr1148Ile) NC_000001.11:154054267:G:A p.(Thr1148Ile) NC_000001.11:154054267:G:A Identity +NM_001007245.3:c.967G>A NP_001007246.1:p.Gly323Arg NC_000007.14:112468040:G:A p.(Gly323Arg) NC_000007.14:112468040:G:A p.(Gly323Arg) NC_000007.14:112468040:G:A Identity +NM_007148.5:c.628T>A NP_009079.2:p.Ser210Thr NC_000017.11:19413318:T:A p.(Ser210Thr) NC_000017.11:19413318:T:A p.(Ser210Thr) NC_000017.11:19413318:T:A Identity +NM_001146032.2:c.803A>T NP_001139504.1:p.Asp268Val NC_000005.10:73037202:A:T p.(Asp268Val) NC_000005.10:73037202:A:T p.(Asp268Val) NC_000005.10:73037202:A:T Identity +NM_001303433.2:c.1412C>T NP_001290362.1:p.Pro471Leu NC_000001.11:77960490:G:A p.(Pro471Leu) NC_000001.11:77960490:G:A p.(Pro471Leu) NC_000001.11:77960490:G:A Identity +NM_002207.3:c.20C>G NP_002198.2:p.Pro7Arg NC_000003.12:37452393:C:G p.(Pro7Arg) NC_000003.12:37452393:C:G p.(Pro7Arg) NC_000003.12:37452393:C:G Identity +NM_054105.2:c.685G>A NP_473446.1:p.Val229Ile NC_000012.12:55452897:G:A p.(Val229Ile) NC_000012.12:55452897:G:A p.(Val229Ile) NC_000012.12:55452897:G:A Identity +NM_007111.5:c.704A>G NP_009042.1:p.Asn235Ser NC_000013.11:113635992:A:G p.(Asn235Ser) NC_000013.11:113635992:A:G p.(Asn235Ser) NC_000013.11:113635992:A:G Identity +NM_001166663.2:c.391C>T NP_001160135.1:p.Pro131Ser NC_000001.11:160841488:G:A p.(Pro131Ser) NC_000001.11:160841488:G:A p.(Pro131Ser) NC_000001.11:160841488:G:A Identity +NM_001001711.3:c.1048G>C NP_001001711.1:p.Val350Leu NC_000011.10:104037869:G:C p.(Val350Leu) NC_000011.10:104037869:G:C p.(Val350Leu) NC_000011.10:104037869:G:C Identity +NM_001201457.2:c.2687C>T NP_001188386.1:p.Ser896Phe NC_000017.11:58587928:G:A p.(Ser896Phe) NC_000017.11:58587928:G:A p.(Ser896Phe) NC_000017.11:58587928:G:A Identity +NM_001017415.2:c.1186C>A NP_001017415.1:p.Leu396Ile NC_000001.11:62445365:C:A p.(Leu396Ile) NC_000001.11:62445365:C:A p.(Leu396Ile) NC_000001.11:62445365:C:A Identity +NM_001256045.2:c.278A>G NP_001242974.1:p.Lys93Arg NC_000003.12:138698934:T:C p.(Lys93Arg) NC_000003.12:138698934:T:C p.(Lys93Arg) NC_000003.12:138698934:T:C Identity +NM_001291876.2:c.3368A>G NP_001278805.2:p.Gln1123Arg NC_000010.11:122085867:A:G p.(Gln1123Arg) NC_000010.11:122085867:A:G p.(Gln1123Arg) NC_000010.11:122085867:A:G Identity +NM_144666.3:c.3491C>T NP_653267.2:p.Ala1164Val NC_000011.10:6539945:C:T p.(Ala1164Val) NC_000011.10:6539945:C:T p.(Ala1164Val) NC_000011.10:6539945:C:T Identity +NM_003126.4:c.3311A>G NP_003117.2:p.Glu1104Gly NC_000001.11:158652530:T:C p.(Glu1104Gly) NC_000001.11:158652530:T:C p.(Glu1104Gly) NC_000001.11:158652530:T:C Identity +NM_002508.3:c.1783G>A NP_002499.2:p.Glu595Lys NC_000001.11:236026096:C:T p.(Glu595Lys) NC_000001.11:236026096:C:T p.(Glu595Lys) NC_000001.11:236026096:C:T Identity +NM_031909.3:c.306G>C NP_114115.2:p.Gln102His NC_000011.10:47590504:C:G p.(Gln102His) NC_000011.10:47590504:C:G p.(Gln102His) NC_000011.10:47590504:C:G Identity +NM_001134382.3:c.2080C>A NP_001127854.1:p.Arg694Ser NC_000003.12:12915673:G:T p.(Arg694Ser) NC_000003.12:12915673:G:T p.(Arg694Ser) NC_000003.12:12915673:G:T Identity +NM_001303130.2:c.422A>T NP_001290059.1:p.Tyr141Phe NC_000012.12:100612117:A:T p.(Tyr141Phe) NC_000012.12:100612117:A:T p.(Tyr141Phe) NC_000012.12:100612117:A:T Identity +NM_017857.4:c.637G>A NP_060327.3:p.Ala213Thr NC_000011.10:67307582:G:A p.(Ala213Thr) NC_000011.10:67307582:G:A p.(Ala213Thr) NC_000011.10:67307582:G:A Identity +NM_001004737.1:c.241A>T NP_001004737.1:p.Met81Leu NC_000003.12:98497920:A:T p.(Met81Leu) NC_000003.12:98497920:A:T p.(Met81Leu) NC_000003.12:98497920:A:T Identity +NM_001081455.2:c.961G>C NP_001074924.1:p.Asp321His NC_000003.12:151213355:C:G p.(Asp321His) NC_000003.12:151213355:C:G p.(Asp321His) NC_000003.12:151213355:C:G Identity +NM_001376049.1:c.1206T>A NP_001362978.1:p.Asp402Glu NC_000005.10:74796083:A:T p.(Asp402Glu) NC_000005.10:74796083:A:T p.(Asp402Glu) NC_000005.10:74796083:A:T Identity +NM_001377298.1:c.1373T>A NP_001364227.1:p.Phe458Tyr NC_000001.11:161214173:T:A p.(Phe458Tyr) NC_000001.11:161214173:T:A p.(Phe458Tyr) NC_000001.11:161214173:T:A Identity +NM_001164405.2:c.616C>T NP_001157877.1:p.Arg206Cys NC_000017.11:1271178:C:T p.(Arg206Cys) NC_000017.11:1271178:C:T p.(Arg206Cys) NC_000017.11:1271178:C:T Identity +NM_002164.6:c.424C>A NP_002155.1:p.Pro142Thr NC_000008.11:39920100:C:A p.(Pro142Thr) NC_000008.11:39920100:C:A p.(Pro142Thr) NC_000008.11:39920100:C:A Identity +NM_022076.4:c.311T>C NP_071359.3:p.Leu104Pro NC_000023.11:44844442:T:C p.(Leu104Pro) NC_000023.11:44844442:T:C p.(Leu104Pro) NC_000023.11:44844442:T:C Identity +NM_001143783.1:c.852G>T NP_001137255.1:p.Glu284Asp NC_000015.10:90889938:G:T p.(Glu284Asp) NC_000015.10:90889938:G:T p.(Glu284Asp) NC_000015.10:90889938:G:T Identity +NM_001693.4:c.1435A>G NP_001684.2:p.Ile479Val NC_000008.11:20220300:A:G p.(Ile479Val) NC_000008.11:20220300:A:G p.(Ile479Val) NC_000008.11:20220300:A:G Identity +NM_001304746.2:c.309G>T NP_001291675.1:p.Glu103Asp NC_000001.11:38919143:C:A p.(Glu103Asp) NC_000001.11:38919143:C:A p.(Glu103Asp) NC_000001.11:38919143:C:A Identity +NM_001113561.2:c.820A>G NP_001107033.1:p.Ser274Gly NC_000005.10:64214145:A:G p.(Ser274Gly) NC_000005.10:64214145:A:G p.(Ser274Gly) NC_000005.10:64214145:A:G Identity +NM_001100117.3:c.3922A>G NP_001093587.1:p.Met1308Val NC_000008.11:104251691:A:G p.(Met1308Val) NC_000008.11:104251691:A:G p.(Met1308Val) NC_000008.11:104251691:A:G Identity +NM_001284306.2:c.548C>G NP_001271235.1:p.Thr183Arg NC_000015.10:42448144:G:C p.(Thr183Arg) NC_000015.10:42448144:G:C p.(Thr183Arg) NC_000015.10:42448144:G:C Identity +NM_001136561.3:c.229A>G NP_001130033.3:p.Ser77Gly NC_000001.11:13116171:T:C p.(Ser77Gly) NC_000001.11:13116171:T:C p.(Ser77Gly) NC_000001.11:13116171:T:C Identity +NM_001143819.3:c.2620G>A NP_001137291.1:p.Ala874Thr NC_000012.12:113296028:G:A p.(Ala874Thr) NC_000012.12:113296028:G:A p.(Ala874Thr) NC_000012.12:113296028:G:A Identity +NM_001142864.4:c.2140G>A NP_001136336.2:p.Val714Met NC_000016.10:88734395:C:T p.(Val714Met) NC_000016.10:88734395:C:T p.(Val714Met) NC_000016.10:88734395:C:T Identity +NM_001271895.2:c.398A>G NP_001258824.1:p.His133Arg NC_000001.11:150490610:A:G p.(His133Arg) NC_000001.11:150490610:A:G p.(His133Arg) NC_000001.11:150490610:A:G Identity +NM_003224.6:c.446C>T NP_003215.1:p.Thr149Met NC_000020.11:63700673:G:A p.(Thr149Met) NC_000020.11:63700673:G:A p.(Thr149Met) NC_000020.11:63700673:G:A Identity +NM_001300832.3:c.184A>G NP_001287761.1:p.Met62Val NC_000011.10:65393670:A:G p.(Met62Val) NC_000011.10:65393670:A:G p.(Met62Val) NC_000011.10:65393670:A:G Identity +NM_000081.4:c.7826A>C NP_000072.2:p.Lys2609Thr NC_000001.11:235746481:T:G p.(Lys2609Thr) NC_000001.11:235746481:T:G p.(Lys2609Thr) NC_000001.11:235746481:T:G Identity +NM_001365125.2:c.1238G>C NP_001352054.1:p.Gly413Ala NC_000011.10:3753344:C:G p.(Gly413Ala) NC_000011.10:3753344:C:G p.(Gly413Ala) NC_000011.10:3753344:C:G Identity +NM_000210.4:c.1781G>C NP_000201.2:p.Arg594Pro NC_000002.12:172485190:G:C p.(Arg594Pro) NC_000002.12:172485190:G:C p.(Arg594Pro) NC_000002.12:172485190:G:C Identity +NM_001190977.3:c.368C>T NP_001177906.1:p.Ser123Leu NC_000012.12:42160637:G:A p.(Ser123Leu) NC_000012.12:42160637:G:A p.(Ser123Leu) NC_000012.12:42160637:G:A Identity +NM_000859.3:c.947T>A NP_000850.1:p.Ile316Asn NC_000005.10:75351072:T:A p.(Ile316Asn) NC_000005.10:75351072:T:A p.(Ile316Asn) NC_000005.10:75351072:T:A Identity +NM_024940.8:c.2818G>A NP_079216.4:p.Val940Met NC_000008.11:25351793:G:A p.(Val940Met) NC_000008.11:25351793:G:A p.(Val940Met) NC_000008.11:25351793:G:A Identity +NM_001080409.3:c.2482T>C NP_001073878.2:p.Trp828Arg NC_000019.10:22757426:A:G p.(Trp828Arg) NC_000019.10:22757426:A:G p.(Trp828Arg) NC_000019.10:22757426:A:G Identity +NM_001276261.2:c.415C>G NP_001263190.1:p.Gln139Glu NC_000009.12:113507458:C:G p.(Gln139Glu) NC_000009.12:113507458:C:G p.(Gln139Glu) NC_000009.12:113507458:C:G Identity +NM_138435.4:c.911T>G NP_612444.2:p.Leu304Arg NC_000022.11:40021420:T:G p.(Leu304Arg) NC_000022.11:40021420:T:G p.(Leu304Arg) NC_000022.11:40021420:T:G Identity +NM_001082.5:c.1015T>C NP_001073.3:p.Trp339Arg NC_000019.10:15886023:A:G p.(Trp339Arg) NC_000019.10:15886023:A:G p.(Trp339Arg) NC_000019.10:15886023:A:G Identity +NM_024091.4:c.1267C>T NP_076996.2:p.Pro423Ser NC_000005.10:7866816:G:A p.(Pro423Ser) NC_000005.10:7866816:G:A p.(Pro423Ser) NC_000005.10:7866816:G:A Identity +NM_001171137.2:c.1174C>T NP_001164608.1:p.Leu392Phe NC_000009.12:123146976:G:A p.(Leu392Phe) NC_000009.12:123146976:G:A p.(Leu392Phe) NC_000009.12:123146976:G:A Identity +NM_001013622.3:c.332C>T NP_001013644.1:p.Ser111Leu NC_000004.12:1655527:G:A p.(Ser111Leu) NC_000004.12:1655527:G:A p.(Ser111Leu) NC_000004.12:1655527:G:A Identity +NM_001131034.4:c.152C>T NP_001124506.1:p.Thr51Ile NC_000004.12:1108361:G:A p.(Thr51Ile) NC_000004.12:1108361:G:A p.(Thr51Ile) NC_000004.12:1108361:G:A Identity +NM_015932.6:c.322A>C NP_057016.1:p.Asn108His NC_000013.11:28672395:A:C p.(Asn108His) NC_000013.11:28672395:A:C p.(Asn108His) NC_000013.11:28672395:A:C Identity +NM_001018070.3:c.283G>A NP_001018080.1:p.Asp95Asn NC_000011.10:67442006:C:T p.(Asp95Asn) NC_000011.10:67442006:C:T p.(Asp95Asn) NC_000011.10:67442006:C:T Identity +NM_001317091.2:c.455C>G NP_001304020.1:p.Thr152Arg NC_000004.12:163350727:C:G p.(Thr152Arg) NC_000004.12:163350727:C:G p.(Thr152Arg) NC_000004.12:163350727:C:G Identity +NM_001377321.1:c.370C>T NP_001364250.1:p.Pro124Ser NC_000017.11:69219704:G:A p.(Pro124Ser) NC_000017.11:69219704:G:A p.(Pro124Ser) NC_000017.11:69219704:G:A Identity +NM_001353546.2:c.887C>A NP_001340475.1:p.Pro296His NC_000007.14:6621922:C:A p.(Pro296His) NC_000007.14:6621922:C:A p.(Pro296His) NC_000007.14:6621922:C:A Identity +NM_001001323.2:c.2893C>G NP_001001323.1:p.His965Asp NC_000012.12:89603209:G:C p.(His965Asp) NC_000012.12:89603209:G:C p.(His965Asp) NC_000012.12:89603209:G:C Identity +NM_001364440.2:c.1312C>T NP_001351369.1:p.Leu438Phe NC_000005.10:7889259:C:T p.(Leu438Phe) NC_000005.10:7889259:C:T p.(Leu438Phe) NC_000005.10:7889259:C:T Identity +NM_001201543.2:c.1718C>G NP_001188472.1:p.Ala573Gly NC_000002.12:61838570:G:C p.(Ala573Gly) NC_000002.12:61838570:G:C p.(Ala573Gly) NC_000002.12:61838570:G:C Identity +NM_032951.3:c.1165C>A NP_116569.1:p.Pro389Thr NC_000007.14:73597619:G:T p.(Pro389Thr) NC_000007.14:73597619:G:T p.(Pro389Thr) NC_000007.14:73597619:G:T Identity +NM_001127219.2:c.485A>T NP_001120691.1:p.Glu162Val NC_000011.10:44074676:A:T p.(Glu162Val) NC_000011.10:44074676:A:T p.(Glu162Val) NC_000011.10:44074676:A:T Identity +NM_004122.2:c.58G>T NP_004113.1:p.Asp20Tyr NC_000003.12:172448355:C:A p.(Asp20Tyr) NC_000003.12:172448355:C:A p.(Asp20Tyr) NC_000003.12:172448355:C:A Identity +NM_020689.4:c.1033T>C NP_065740.2:p.Ser345Pro NC_000020.11:19684306:T:C p.(Ser345Pro) NC_000020.11:19684306:T:C p.(Ser345Pro) NC_000020.11:19684306:T:C Identity +NM_001244937.3:c.1499G>A NP_001231866.1:p.Arg500Gln NC_000003.12:49898915:C:T p.(Arg500Gln) NC_000003.12:49898915:C:T p.(Arg500Gln) NC_000003.12:49898915:C:T Identity +NM_001145468.4:c.554T>A NP_001138940.4:p.Val185Glu NC_000022.11:24321533:T:A p.(Val185Glu) NC_000022.11:24321533:T:A p.(Val185Glu) NC_000022.11:24321533:T:A Identity +NM_019601.4:c.250A>C NP_062547.1:p.Lys84Gln NC_000022.11:24183229:A:C p.(Lys84Gln) NC_000022.11:24183229:A:C p.(Lys84Gln) NC_000022.11:24183229:A:C Identity +NM_000839.5:c.2460G>T NP_000830.2:p.Gln820His NC_000003.12:51717731:G:T p.(Gln820His) NC_000003.12:51717731:G:T p.(Gln820His) NC_000003.12:51717731:G:T Identity +NM_014506.3:c.679G>T NP_055321.1:p.Asp227Tyr NC_000009.12:129808941:G:T p.(Asp227Tyr) NC_000009.12:129808941:G:T p.(Asp227Tyr) NC_000009.12:129808941:G:T Identity +NM_001385221.1:c.97G>A NP_001372150.1:p.Ala33Thr NC_000013.11:20704076:G:A p.(Ala33Thr) NC_000013.11:20704076:G:A p.(Ala33Thr) NC_000013.11:20704076:G:A Identity +NM_001195200.2:c.46G>C NP_001182129.1:p.Val16Leu NC_000009.12:35658424:G:C p.(Val16Leu) NC_000009.12:35658424:G:C p.(Val16Leu) NC_000009.12:35658424:G:C Identity +NM_153212.3:c.552G>T NP_694944.1:p.Lys184Asn NC_000001.11:34761805:G:T p.(Lys184Asn) NC_000001.11:34761805:G:T p.(Lys184Asn) NC_000001.11:34761805:G:T Identity +NM_001146003.2:c.745A>G NP_001139475.1:p.Thr249Ala NC_000003.12:131152484:A:G p.(Thr249Ala) NC_000003.12:131152484:A:G p.(Thr249Ala) NC_000003.12:131152484:A:G Identity +NM_001163857.2:c.109G>A NP_001157329.1:p.Asp37Asn NC_000022.11:37002216:C:T p.(Asp37Asn) NC_000022.11:37002216:C:T p.(Asp37Asn) NC_000022.11:37002216:C:T Identity +NM_033513.3:c.364G>T NP_277048.2:p.Val122Leu NC_000019.10:518913:G:T p.(Val122Leu) NC_000019.10:518913:G:T p.(Val122Leu) NC_000019.10:518913:G:T Identity +NM_014243.3:c.2809C>G NP_055058.2:p.Leu937Val NC_000004.12:72290976:G:C p.(Leu937Val) NC_000004.12:72290976:G:C p.(Leu937Val) NC_000004.12:72290976:G:C Identity +NM_152470.3:c.494G>C NP_689683.2:p.Ser165Thr NC_000018.10:46447570:G:C p.(Ser165Thr) NC_000018.10:46447570:G:C p.(Ser165Thr) NC_000018.10:46447570:G:C Identity +NM_005146.5:c.1479C>G NP_005137.1:p.Asp493Glu NC_000011.10:65967727:C:G p.(Asp493Glu) NC_000011.10:65967727:C:G p.(Asp493Glu) NC_000011.10:65967727:C:G Identity +NM_022451.11:c.41G>T NP_071896.8:p.Arg14Leu NC_000010.11:94361840:C:A p.(Arg14Leu) NC_000010.11:94361840:C:A p.(Arg14Leu) NC_000010.11:94361840:C:A Identity +NM_145028.5:c.201G>C NP_659465.2:p.Gln67His NC_000006.12:35737308:G:C p.(Gln67His) NC_000006.12:35737308:G:C p.(Gln67His) NC_000006.12:35737308:G:C Identity +NM_017807.4:c.412G>A NP_060277.1:p.Val138Met NC_000014.9:20449265:C:T p.(Val138Met) NC_000014.9:20449265:C:T p.(Val138Met) NC_000014.9:20449265:C:T Identity +NM_001252641.2:c.884T>A NP_001239570.1:p.Ile295Asn NC_000019.10:30009255:T:A p.(Ile295Asn) NC_000019.10:30009255:T:A p.(Ile295Asn) NC_000019.10:30009255:T:A Identity +NM_000591.4:c.752C>G NP_000582.1:p.Pro251Arg NC_000005.10:140632231:G:C p.(Pro251Arg) NC_000005.10:140632231:G:C p.(Pro251Arg) NC_000005.10:140632231:G:C Identity +NM_022571.6:c.487G>C NP_072093.2:p.Asp163His NC_000014.9:59464739:C:G p.(Asp163His) NC_000014.9:59464739:C:G p.(Asp163His) NC_000014.9:59464739:C:G Identity +NM_173479.4:c.614T>G NP_775750.3:p.Phe205Cys NC_000019.10:33148844:T:G p.(Phe205Cys) NC_000019.10:33148844:T:G p.(Phe205Cys) NC_000019.10:33148844:T:G Identity +NM_013369.4:c.275A>G NP_037501.2:p.Tyr92Cys NC_000021.9:44259505:T:C p.(Tyr92Cys) NC_000021.9:44259505:T:C p.(Tyr92Cys) NC_000021.9:44259505:T:C Identity +NM_001005199.2:c.375C>G NP_001005199.1:p.Ile125Met NC_000011.10:56290687:G:C p.(Ile125Met) NC_000011.10:56290687:G:C p.(Ile125Met) NC_000011.10:56290687:G:C Identity +NM_023010.4:c.77G>A NP_075386.1:p.Gly26Asp NC_000023.11:119852851:C:T p.(Gly26Asp) NC_000023.11:119852851:C:T p.(Gly26Asp) NC_000023.11:119852851:C:T Identity +NM_001163285.2:c.1778G>T NP_001156757.1:p.Gly593Val NC_000022.11:29299700:G:T p.(Gly593Val) NC_000022.11:29299700:G:T p.(Gly593Val) NC_000022.11:29299700:G:T Identity +NM_001346105.2:c.1156C>T NP_001333034.1:p.Pro386Ser NC_000019.10:307470:G:A p.(Pro386Ser) NC_000019.10:307470:G:A p.(Pro386Ser) NC_000019.10:307470:G:A Identity +NM_019016.3:c.461A>G NP_061889.2:p.Tyr154Cys NC_000017.11:40703232:T:C p.(Tyr154Cys) NC_000017.11:40703232:T:C p.(Tyr154Cys) NC_000017.11:40703232:T:C Identity +NM_001178089.3:c.1109C>G NP_001171560.1:p.Ser370Cys NC_000005.10:178965512:C:G p.(Ser370Cys) NC_000005.10:178965512:C:G p.(Ser370Cys) NC_000005.10:178965512:C:G Identity +NM_032289.4:c.1052T>G NP_115665.1:p.Leu351Arg NC_000005.10:139817515:T:G p.(Leu351Arg) NC_000005.10:139817515:T:G p.(Leu351Arg) NC_000005.10:139817515:T:G Identity +NM_024857.5:c.2933C>A NP_079133.3:p.Ser978Tyr NC_000017.11:30858299:C:A p.(Ser978Tyr) NC_000017.11:30858299:C:A p.(Ser978Tyr) NC_000017.11:30858299:C:A Identity +NM_001146339.2:c.523G>C NP_001139811.1:p.Gly175Arg NC_000019.10:29530043:G:C p.(Gly175Arg) NC_000019.10:29530043:G:C p.(Gly175Arg) NC_000019.10:29530043:G:C Identity +NM_001378068.1:c.4253A>G NP_001364997.1:p.Asn1418Ser NC_000002.12:189746574:A:G p.(Asn1418Ser) NC_000002.12:189746574:A:G p.(Asn1418Ser) NC_000002.12:189746574:A:G Identity +NM_002647.4:c.217C>G NP_002638.2:p.Pro73Ala NC_000018.10:41957717:C:G p.(Pro73Ala) NC_000018.10:41957717:C:G p.(Pro73Ala) NC_000018.10:41957717:C:G Identity +NM_001031665.4:c.1094G>A NP_001026835.1:p.Gly365Glu NC_000019.10:52950680:C:T p.(Gly365Glu) NC_000019.10:52950680:C:T p.(Gly365Glu) NC_000019.10:52950680:C:T Identity +NM_001005408.2:c.2137G>A NP_001005408.1:p.Gly713Arg NC_000017.11:7323937:C:T p.(Gly713Arg) NC_000017.11:7323937:C:T p.(Gly713Arg) NC_000017.11:7323937:C:T Identity +NM_001005512.2:c.664T>C NP_001005512.2:p.Ser222Pro NC_000011.10:48489455:T:C p.(Ser222Pro) NC_000011.10:48489455:T:C p.(Ser222Pro) NC_000011.10:48489455:T:C Identity +NM_001503.4:c.1684C>G NP_001494.2:p.Leu562Val NC_000006.12:24446973:G:C p.(Leu562Val) NC_000006.12:24446973:G:C p.(Leu562Val) NC_000006.12:24446973:G:C Identity +NM_020802.4:c.59C>T NP_065853.3:p.Ser20Leu NC_000011.10:101915342:C:T p.(Ser20Leu) NC_000011.10:101915342:C:T p.(Ser20Leu) NC_000011.10:101915342:C:T Identity +NM_001256213.2:c.994A>C NP_001243142.1:p.Asn332His NC_000019.10:41984949:T:G p.(Asn332His) NC_000019.10:41984949:T:G p.(Asn332His) NC_000019.10:41984949:T:G Identity +NM_001351277.2:c.2124G>C NP_001338206.1:p.Lys708Asn NC_000010.11:813123:C:G p.(Lys708Asn) NC_000010.11:813123:C:G p.(Lys708Asn) NC_000010.11:813123:C:G Identity +NM_001135053.2:c.436G>A NP_001128525.1:p.Val146Met NC_000011.10:407861:C:T p.(Val146Met) NC_000011.10:407861:C:T p.(Val146Met) NC_000011.10:407861:C:T Identity +NM_001164.5:c.871G>C NP_001155.1:p.Gly291Arg NC_000011.10:6403672:C:G p.(Gly291Arg) NC_000011.10:6403672:C:G p.(Gly291Arg) NC_000011.10:6403672:C:G Identity +NM_025235.4:c.2028A>T NP_079511.1:p.Gln676His NC_000010.11:91842359:A:T p.(Gln676His) NC_000010.11:91842359:A:T p.(Gln676His) NC_000010.11:91842359:A:T Identity +NM_030642.1:c.394G>A NP_085145.1:p.Glu132Lys NC_000022.11:35726461:G:A p.(Glu132Lys) NC_000022.11:35726461:G:A p.(Glu132Lys) NC_000022.11:35726461:G:A Identity +NM_030974.4:c.916G>T NP_112236.3:p.Ala306Ser NC_000008.11:144099282:C:A p.(Ala306Ser) NC_000008.11:144099282:C:A p.(Ala306Ser) NC_000008.11:144099282:C:A Identity +NM_001330166.2:c.308C>A NP_001317095.1:p.Pro103His NC_000017.11:28547693:G:T p.(Pro103His) NC_000017.11:28547693:G:T p.(Pro103His) NC_000017.11:28547693:G:T Identity +NM_001199865.2:c.386T>C NP_001186794.1:p.Leu129Pro NC_000020.11:16512885:A:G p.(Leu129Pro) NC_000020.11:16512885:A:G p.(Leu129Pro) NC_000020.11:16512885:A:G Identity +NM_171999.4:c.928G>C NP_741996.2:p.Ala310Pro NC_000018.10:78992918:G:C p.(Ala310Pro) NC_000018.10:78992918:G:C p.(Ala310Pro) NC_000018.10:78992918:G:C Identity +NM_001109760.1:c.658C>G NP_001103230.1:p.Leu220Val NC_000017.11:81550835:G:C ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found ERR:AlignmentMapper(tx_ac=NM_001109760.1, alt_ac=NM_001109760.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001109760.1, alt_ac=NM_001109760.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001109760.1 not found +NM_001080415.2:c.3003A>C NP_001073884.1:p.Arg1001Ser NC_000003.12:143056362:A:C p.(Arg1001Ser) NC_000003.12:143056362:A:C p.(Arg1001Ser) NC_000003.12:143056362:A:C Identity +NM_001258205.2:c.353G>A NP_001245134.1:p.Arg118Gln NC_000017.11:3543586:C:T p.(Arg118Gln) NC_000017.11:3543586:C:T p.(Arg118Gln) NC_000017.11:3543586:C:T Identity +NM_001291876.2:c.1787G>A NP_001278805.2:p.Gly596Glu NC_000010.11:122084286:G:A p.(Gly596Glu) NC_000010.11:122084286:G:A p.(Gly596Glu) NC_000010.11:122084286:G:A Identity +NM_018930.4:c.178G>A NP_061753.1:p.Ala60Thr NC_000005.10:141192729:G:A p.(Ala60Thr) NC_000005.10:141192729:G:A p.(Ala60Thr) NC_000005.10:141192729:G:A Identity +NM_001393587.1:c.607A>T NP_001380516.1:p.Ile203Phe NC_000022.11:36141591:T:A p.(Ile203Phe) NC_000022.11:36141591:T:A p.(Ile203Phe) NC_000022.11:36141591:T:A Identity +NM_001395206.1:c.690T>G NP_001382135.1:p.Phe230Leu NC_000008.11:40005348:T:G p.(Phe230Leu) NC_000008.11:40005348:T:G p.(Phe230Leu) NC_000008.11:40005348:T:G Identity +NM_001206615.2:c.284G>A NP_001193544.1:p.Arg95Gln NC_000011.10:34646624:G:A p.(Arg95Gln) NC_000011.10:34646624:G:A p.(Arg95Gln) NC_000011.10:34646624:G:A Identity +NM_001318889.2:c.1126A>G NP_001305818.1:p.Thr376Ala NC_000003.12:111606737:A:G p.(Thr376Ala) NC_000003.12:111606737:A:G p.(Thr376Ala) NC_000003.12:111606737:A:G Identity +NM_001252119.2:c.634C>T NP_001239048.1:p.Pro212Ser NC_000002.12:241138760:G:A p.(Pro212Ser) NC_000002.12:241138760:G:A p.(Pro212Ser) NC_000002.12:241138760:G:A Identity +NM_000971.4:c.449T>C NP_000962.2:p.Val150Ala NC_000008.11:73291640:A:G p.(Val150Ala) NC_000008.11:73291640:A:G p.(Val150Ala) NC_000008.11:73291640:A:G Identity +NM_006570.5:c.414C>G NP_006561.1:p.Asp138Glu NC_000009.12:19050072:C:G p.(Asp138Glu) NC_000009.12:19050072:C:G p.(Asp138Glu) NC_000009.12:19050072:C:G Identity +NM_001367466.1:c.571T>G NP_001354395.1:p.Cys191Gly NC_000001.11:153942909:A:C p.(Cys191Gly) NC_000001.11:153942909:A:C p.(Cys191Gly) NC_000001.11:153942909:A:C Identity +NM_001190809.2:c.1715C>T NP_001177738.1:p.Pro572Leu NC_000020.11:39028423:C:T p.(Pro572Leu) NC_000020.11:39028423:C:T p.(Pro572Leu) NC_000020.11:39028423:C:T Identity +NM_001040272.6:c.1196G>A NP_001035362.3:p.Arg399Gln NC_000009.12:18680370:G:A p.(Arg399Gln) NC_000009.12:18680370:G:A p.(Arg399Gln) NC_000009.12:18680370:G:A Identity +NM_001393928.1:c.1601A>T NP_001380857.1:p.Asn534Ile NC_000015.10:42329405:A:T p.(Asn534Ile) NC_000015.10:42329405:A:T p.(Asn534Ile) NC_000015.10:42329405:A:T Identity +NM_173800.5:c.1051A>G NP_776161.3:p.Ile351Val NC_000005.10:115987884:A:G p.(Ile351Val) NC_000005.10:115987884:A:G p.(Ile351Val) NC_000005.10:115987884:A:G Identity +NM_020949.3:c.1199T>C NP_066000.2:p.Leu400Pro NC_000003.12:170481082:A:G p.(Leu400Pro) NC_000003.12:170481082:A:G p.(Leu400Pro) NC_000003.12:170481082:A:G Identity +NM_001204824.2:c.1996A>G NP_001191753.1:p.Ser666Gly NC_000008.11:132129524:T:C p.(Ser666Gly) NC_000008.11:132129524:T:C p.(Ser666Gly) NC_000008.11:132129524:T:C Identity +NM_005847.5:c.1741A>G NP_005838.3:p.Ile581Val NC_000005.10:139372061:T:C p.(Ile581Val) NC_000005.10:139372061:T:C p.(Ile581Val) NC_000005.10:139372061:T:C Identity +NM_001286077.2:c.504C>G NP_001273006.1:p.Ile168Met NC_000011.10:62677810:G:C p.(Ile168Met) NC_000011.10:62677810:G:C p.(Ile168Met) NC_000011.10:62677810:G:C Identity +NM_001277174.2:c.259C>T NP_001264103.1:p.Pro87Ser NC_000014.9:23359939:G:A p.(Pro87Ser) NC_000014.9:23359939:G:A p.(Pro87Ser) NC_000014.9:23359939:G:A Identity +NM_198557.3:c.502G>A NP_940959.1:p.Ala168Thr NC_000002.12:151251477:C:T p.(Ala168Thr) NC_000002.12:151251477:C:T p.(Ala168Thr) NC_000002.12:151251477:C:T Identity +NM_004178.5:c.987G>C NP_004169.3:p.Glu329Asp NC_000012.12:53506096:G:C p.(Glu329Asp) NC_000012.12:53506096:G:C p.(Glu329Asp) NC_000012.12:53506096:G:C Identity +NM_001271769.2:c.1589A>G NP_001258698.1:p.Gln530Arg NC_000005.10:78129221:T:C p.(Gln530Arg) NC_000005.10:78129221:T:C p.(Gln530Arg) NC_000005.10:78129221:T:C Identity +NM_001162499.2:c.3577G>A NP_001155971.1:p.Glu1193Lys NC_000003.12:12833847:G:A p.(Glu1193Lys) NC_000003.12:12833847:G:A p.(Glu1193Lys) NC_000003.12:12833847:G:A Identity +NM_178033.2:c.61T>A NP_828847.1:p.Cys21Ser NC_000001.11:47023877:T:A p.(Cys21Ser) NC_000001.11:47023877:T:A p.(Cys21Ser) NC_000001.11:47023877:T:A Identity +NM_001199160.2:c.1460C>T NP_001186089.1:p.Pro487Leu NC_000003.12:49116057:G:A p.(Pro487Leu) NC_000003.12:49116057:G:A p.(Pro487Leu) NC_000003.12:49116057:G:A Identity +NM_001290318.2:c.921C>A NP_001277247.1:p.Phe307Leu NC_000019.10:57356648:C:A p.(Phe307Leu) NC_000019.10:57356648:C:A p.(Phe307Leu) NC_000019.10:57356648:C:A Identity +NM_003857.4:c.792C>G NP_003848.1:p.Phe264Leu NC_000017.11:76077058:C:G p.(Phe264Leu) NC_000017.11:76077058:C:G p.(Phe264Leu) NC_000017.11:76077058:C:G Identity +NM_001317037.2:c.1574T>C NP_001303966.1:p.Leu525Pro NC_000009.12:127727313:T:C p.(Leu525Pro) NC_000009.12:127727313:T:C p.(Leu525Pro) NC_000009.12:127727313:T:C Identity +NM_152744.4:c.3332C>G NP_689957.3:p.Ala1111Gly NC_000007.14:4110669:C:G p.(Ala1111Gly) NC_000007.14:4110669:C:G p.(Ala1111Gly) NC_000007.14:4110669:C:G Identity +NM_080742.3:c.455G>A NP_542780.1:p.Gly152Glu NC_000006.12:70955974:C:T p.(Gly152Glu) NC_000006.12:70955974:C:T p.(Gly152Glu) NC_000006.12:70955974:C:T Identity +NM_001286725.2:c.907A>G NP_001273654.1:p.Ser303Gly NC_000013.11:69882419:T:C p.(Ser303Gly) NC_000013.11:69882419:T:C p.(Ser303Gly) NC_000013.11:69882419:T:C Identity +NM_016353.5:c.67G>C NP_057437.1:p.Val23Leu NC_000008.11:17156789:G:C p.(Val23Leu) NC_000008.11:17156789:G:C p.(Val23Leu) NC_000008.11:17156789:G:C Identity +NM_015113.4:c.6802A>G NP_055928.3:p.Asn2268Asp NC_000017.11:4032215:T:C p.(Asn2268Asp) NC_000017.11:4032215:T:C p.(Asn2268Asp) NC_000017.11:4032215:T:C Identity +NM_001080395.3:c.1528G>A NP_001073864.2:p.Gly510Ser NC_000017.11:81122407:C:T p.(Gly510Ser) NC_000017.11:81122407:C:T p.(Gly510Ser) NC_000017.11:81122407:C:T Identity +NM_005167.7:c.1045T>C NP_005158.5:p.Trp349Arg NC_000001.11:112711266:A:G p.(Trp349Arg) NC_000001.11:112711266:A:G p.(Trp349Arg) NC_000001.11:112711266:A:G Identity +NM_001127182.2:c.697A>C NP_001120654.2:p.Lys233Gln NC_000010.11:93516951:A:C p.(Lys233Gln) NC_000010.11:93516951:A:C p.(Lys233Gln) NC_000010.11:93516951:A:C Identity +NM_001320766.2:c.4410A>G NP_001307695.2:p.Ile1470Met NC_000021.9:28941249:T:C p.(Ile1470Met) NC_000021.9:28941249:T:C p.(Ile1470Met) NC_000021.9:28941249:T:C Identity +NM_001278642.1:c.125C>T NP_001265571.1:p.Ala42Val NC_000005.10:84254154:G:A p.(Ala42Val) NC_000005.10:84254154:G:A p.(Ala42Val) NC_000005.10:84254154:G:A Identity +NM_001083946.2:c.142A>G NP_001077415.1:p.Met48Val NC_000002.12:37232191:A:G p.(Met48Val) NC_000002.12:37232191:A:G p.(Met48Val) NC_000002.12:37232191:A:G Identity +NM_001135590.2:c.723C>G NP_001129062.1:p.Cys241Trp NC_000019.10:51873089:G:C p.(Cys241Trp) NC_000019.10:51873089:G:C p.(Cys241Trp) NC_000019.10:51873089:G:C Identity +NM_001175.7:c.108G>T NP_001166.3:p.Gln36His NC_000012.12:14950604:C:A p.(Gln36His) NC_000012.12:14950604:C:A p.(Gln36His) NC_000012.12:14950604:C:A Identity +NM_021165.4:c.2265G>C NP_066988.1:p.Glu755Asp NC_000001.11:177281440:G:C p.(Glu755Asp) NC_000001.11:177281440:G:C p.(Glu755Asp) NC_000001.11:177281440:G:C Identity +NM_000424.4:c.1727A>G NP_000415.2:p.Lys576Arg NC_000012.12:52514987:T:C p.(Lys576Arg) NC_000012.12:52514987:T:C p.(Lys576Arg) NC_000012.12:52514987:T:C Identity +NM_001197026.2:c.38G>A NP_001183955.1:p.Ser13Asn NC_000007.14:30028799:G:A p.(Ser13Asn) NC_000007.14:30028799:G:A p.(Ser13Asn) NC_000007.14:30028799:G:A Identity +NM_005943.6:c.6G>T NP_005934.2:p.Trp2Cys NC_000006.12:39927572:C:A p.(Trp2Cys) NC_000006.12:39927572:C:A p.(Trp2Cys) NC_000006.12:39927572:C:A Identity +NM_001377344.1:c.130G>A NP_001364273.1:p.Ala44Thr NC_000003.12:66500277:C:T p.(Ala44Thr) NC_000003.12:66500277:C:T p.(Ala44Thr) NC_000003.12:66500277:C:T Identity +NM_000435.3:c.2074T>C NP_000426.2:p.Cys692Arg NC_000019.10:15185556:A:G p.(Cys692Arg) NC_000019.10:15185556:A:G p.(Cys692Arg) NC_000019.10:15185556:A:G Identity +NM_173566.3:c.980A>G NP_775837.2:p.His327Arg NC_000022.11:31716858:T:C p.(His327Arg) NC_000022.11:31716858:T:C p.(His327Arg) NC_000022.11:31716858:T:C Identity +NM_032108.4:c.1967A>G NP_115484.2:p.Glu656Gly NC_000019.10:4544300:T:C p.(Glu656Gly) NC_000019.10:4544300:T:C p.(Glu656Gly) NC_000019.10:4544300:T:C Identity +NM_001146274.2:c.1494C>G NP_001139746.1:p.Asn498Lys NC_000010.11:113165656:C:G p.(Asn498Lys) NC_000010.11:113165656:C:G p.(Asn498Lys) NC_000010.11:113165656:C:G Identity +NM_015040.4:c.2682G>C NP_055855.2:p.Glu894Asp NC_000002.12:208325492:G:C p.(Glu894Asp) NC_000002.12:208325492:G:C p.(Glu894Asp) NC_000002.12:208325492:G:C Identity +NM_001164615.2:c.491A>G NP_001158087.1:p.His164Arg NC_000008.11:103324596:A:G p.(His164Arg) NC_000008.11:103324596:A:G p.(His164Arg) NC_000008.11:103324596:A:G Identity +NM_001288973.2:c.277A>C NP_001275902.1:p.Ser93Arg NC_000010.11:126155288:T:G p.(Ser93Arg) NC_000010.11:126155288:T:G p.(Ser93Arg) NC_000010.11:126155288:T:G Identity +NM_013271.5:c.652C>T NP_037403.1:p.Leu218Phe NC_000023.11:48831390:G:A p.(Leu218Phe) NC_000023.11:48831390:G:A p.(Leu218Phe) NC_000023.11:48831390:G:A Identity +NM_005468.3:c.1769G>C NP_005459.2:p.Ser590Thr NC_000011.10:65046274:C:G p.(Ser590Thr) NC_000011.10:65046274:C:G p.(Ser590Thr) NC_000011.10:65046274:C:G Identity +NM_001267843.2:c.1628G>A NP_001254772.1:p.Arg543Gln NC_000004.12:55444696:C:T p.(Arg543Gln) NC_000004.12:55444696:C:T p.(Arg543Gln) NC_000004.12:55444696:C:T Identity +NM_001346712.2:c.704G>A NP_001333641.1:p.Arg235His NC_000017.11:30949314:G:A p.(Arg235His) NC_000017.11:30949314:G:A p.(Arg235His) NC_000017.11:30949314:G:A Identity +NM_001136214.4:c.140A>G NP_001129686.1:p.Glu47Gly NC_000016.10:69952049:A:G p.(Glu47Gly) NC_000016.10:69952049:A:G p.(Glu47Gly) NC_000016.10:69952049:A:G Identity +NM_012451.4:c.614G>A NP_036583.2:p.Gly205Asp NC_000019.10:48376226:G:A p.(Gly205Asp) NC_000019.10:48376226:G:A p.(Gly205Asp) NC_000019.10:48376226:G:A Identity +NM_001372044.2:c.3356T>C NP_001358973.1:p.Leu1119Pro NC_000022.11:50720963:T:C p.(Leu1119Pro) NC_000022.11:50721002:T:C p.(Leu1119Pro) NC_000022.11:50721002:T:C Identity +NM_001002912.5:c.3079G>C NP_001002912.4:p.Glu1027Gln NC_000001.11:74572630:C:G p.(Glu1027Gln) NC_000001.11:74572630:C:G p.(Glu1027Gln) NC_000001.11:74572630:C:G Identity +NM_001037306.1:c.1105C>T NP_001032383.1:p.Arg369Trp NC_000017.11:9628750:C:T ERR:Data provider error: ValueError: Transcript NM_001037306.1 not found ERR:Data provider error: ValueError: Transcript NM_001037306.1 not found ERR:AlignmentMapper(tx_ac=NM_001037306.1, alt_ac=NM_001037306.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001037306.1, alt_ac=NM_001037306.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001037306.1 not found +NM_144982.5:c.3407T>C NP_659419.3:p.Met1136Thr NC_000012.12:71631840:A:G p.(Met1136Thr) NC_000012.12:71631840:A:G p.(Met1136Thr) NC_000012.12:71631840:A:G Identity +NM_001079855.2:c.962C>A NP_001073324.1:p.Pro321His NC_000023.11:2861645:C:A p.(Pro321His) NC_000023.11:2861645:C:A p.(Pro321His) NC_000023.11:2861645:C:A Identity +NM_013267.4:c.17C>T NP_037399.2:p.Ala6Val NC_000012.12:56488101:G:A p.(Ala6Val) NC_000012.12:56488101:G:A p.(Ala6Val) NC_000012.12:56488101:G:A Identity +NM_001190879.3:c.806A>C NP_001177808.1:p.His269Pro NC_000002.12:147943478:T:G p.(His269Pro) NC_000002.12:147943478:T:G p.(His269Pro) NC_000002.12:147943478:T:G Identity +NM_001142502.2:c.99C>A NP_001135974.1:p.Asp33Glu NC_000019.10:45398103:G:T p.(Asp33Glu) NC_000019.10:45398103:G:T p.(Asp33Glu) NC_000019.10:45398103:G:T Identity +NM_001278309.2:c.1729C>G NP_001265238.2:p.Pro577Ala NC_000012.12:4627172:G:C p.(Pro577Ala) NC_000012.12:4627172:G:C p.(Pro577Ala) NC_000012.12:4627172:G:C Identity +NM_001105659.2:c.1214A>C NP_001099129.1:p.Lys405Thr NC_000001.11:74041716:T:G p.(Lys405Thr) NC_000001.11:74041716:T:G p.(Lys405Thr) NC_000001.11:74041716:T:G Identity +NM_000294.3:c.13G>A NP_000285.1:p.Val5Met NC_000016.10:30748832:G:A p.(Val5Met) NC_000016.10:30748832:G:A p.(Val5Met) NC_000016.10:30748832:G:A Identity +NM_000275.3:c.1442C>T NP_000266.2:p.Ala481Val NC_000015.10:27983405:G:A p.(Ala481Val) NC_000015.10:27983405:G:A p.(Ala481Val) NC_000015.10:27983405:G:A Identity +NM_001010888.4:c.119T>C NP_001010888.3:p.Met40Thr NC_000023.11:65488919:T:C p.(Met40Thr) NC_000023.11:65488919:T:C p.(Met40Thr) NC_000023.11:65488919:T:C Identity +NM_001042517.2:c.2097T>G NP_001035982.1:p.Ile699Met NC_000013.11:59924847:A:C p.(Ile699Met) NC_000013.11:59924847:A:C p.(Ile699Met) NC_000013.11:59924847:A:C Identity +NM_001080428.3:c.671G>A NP_001073897.2:p.Arg224Gln NC_000005.10:168062116:G:A p.(Arg224Gln) NC_000005.10:168062116:G:A p.(Arg224Gln) NC_000005.10:168062116:G:A Identity +NM_001185085.2:c.2791C>A NP_001172014.1:p.Gln931Lys NC_000013.11:24710468:C:A p.(Gln931Lys) NC_000013.11:24710468:C:A p.(Gln931Lys) NC_000013.11:24710468:C:A Identity +NM_145657.3:c.276C>A NP_663632.1:p.His92Gln NC_000013.11:27792965:C:A p.(His92Gln) NC_000013.11:27792965:C:A p.(His92Gln) NC_000013.11:27792965:C:A Identity +NM_001508.3:c.1135C>T NP_001499.1:p.His379Tyr NC_000002.12:132645378:C:T p.(His379Tyr) NC_000002.12:132645378:C:T p.(His379Tyr) NC_000002.12:132645378:C:T Identity +NM_014227.3:c.1240C>G NP_055042.1:p.Arg414Gly NC_000022.11:32229233:G:C p.(Arg414Gly) NC_000022.11:32229233:G:C p.(Arg414Gly) NC_000022.11:32229233:G:C Identity +NM_016436.5:c.2140G>A NP_057520.2:p.Glu714Lys NC_000020.11:35931283:G:A p.(Glu714Lys) NC_000020.11:35931283:G:A p.(Glu714Lys) NC_000020.11:35931283:G:A Identity +NM_001321103.2:c.800G>A NP_001308032.1:p.Arg267His NC_000003.12:27431647:C:T p.(Arg267His) NC_000003.12:27431647:C:T p.(Arg267His) NC_000003.12:27431647:C:T Identity +NM_014675.5:c.4642A>G NP_055490.4:p.Ser1548Gly NC_000001.11:16966064:A:G p.(Ser1548Gly) NC_000001.11:16966064:A:G p.(Ser1548Gly) NC_000001.11:16966064:A:G Identity +NM_001320350.2:c.2645G>A NP_001307279.2:p.Gly882Glu NC_000021.9:44405247:G:A p.(Gly882Glu) NC_000021.9:44405247:G:A p.(Gly882Glu) NC_000021.9:44405247:G:A Identity +NM_020781.4:c.598C>T NP_065832.1:p.Pro200Ser NC_000007.14:149178982:C:T p.(Pro200Ser) NC_000007.14:149178982:C:T p.(Pro200Ser) NC_000007.14:149178982:C:T Identity +NM_001040667.3:c.1277G>C NP_001035757.1:p.Arg426Pro NC_000016.10:67169300:G:C p.(Arg426Pro) NC_000016.10:67169300:G:C p.(Arg426Pro) NC_000016.10:67169300:G:C Identity +NM_001122824.2:c.209A>T NP_001116296.1:p.Asp70Val NC_000008.11:38825354:A:T p.(Asp70Val) NC_000008.11:38825354:A:T p.(Asp70Val) NC_000008.11:38825354:A:T Identity +NM_001033855.3:c.1978G>C NP_001029027.1:p.Glu660Gln NC_000010.11:14908508:C:G p.(Glu660Gln) NC_000010.11:14908508:C:G p.(Glu660Gln) NC_000010.11:14908508:C:G Identity +NM_017533.2:c.419T>C NP_060003.2:p.Val140Ala NC_000017.11:10465527:A:G p.(Val140Ala) NC_000017.11:10465527:A:G p.(Val140Ala) NC_000017.11:10465527:A:G Identity +NM_020717.5:c.1154A>G NP_065768.2:p.Asn385Ser NC_000023.11:50634918:T:C p.(Asn385Ser) NC_000023.11:50634918:T:C p.(Asn385Ser) NC_000023.11:50634918:T:C Identity +NM_032271.3:c.1715T>C NP_115647.2:p.Ile572Thr NC_000016.10:2175921:T:C p.(Ile572Thr) NC_000016.10:2175921:T:C p.(Ile572Thr) NC_000016.10:2175921:T:C Identity +NM_033033.4:c.1378G>A NP_149022.3:p.Val460Ile NC_000012.12:52395138:C:T p.(Val460Ile) NC_000012.12:52395138:C:T p.(Val460Ile) NC_000012.12:52395138:C:T Identity +NM_000756.4:c.52C>T NP_000747.1:p.Pro18Ser NC_000008.11:66177425:G:A p.(Pro18Ser) NC_000008.11:66177425:G:A p.(Pro18Ser) NC_000008.11:66177425:G:A Identity +NM_030579.3:c.13A>G NP_085056.2:p.Met5Val NC_000016.10:69424695:A:G p.(Met5Val) NC_000016.10:69424695:A:G p.(Met5Val) NC_000016.10:69424695:A:G Identity +NM_001015878.2:c.72C>A NP_001015878.1:p.Asn24Lys NC_000019.10:57231754:C:A p.(Asn24Lys) NC_000019.10:57231754:C:A p.(Asn24Lys) NC_000019.10:57231754:C:A Identity +NM_001114614.3:c.695A>G NP_001108086.1:p.Asn232Ser NC_000015.10:88901725:T:C p.(Asn232Ser) NC_000015.10:88901725:T:C p.(Asn232Ser) NC_000015.10:88901725:T:C Identity +NM_018654.2:c.185C>T NP_061124.1:p.Thr62Ile NC_000012.12:12950199:G:A p.(Thr62Ile) NC_000012.12:12950199:G:A p.(Thr62Ile) NC_000012.12:12950199:G:A Identity +NM_003890.3:c.10349C>G NP_003881.2:p.Pro3450Arg NC_000019.10:39891896:G:C ERR:TranscriptMismatch:expected C, found G at transcript indices 10364..10365 NC_000019.10:39875680:C:C ERR:NM_003890.3:c.10349C>G: Variant reference (C) does not agree with reference sequence (G) ERR:NM_003890.3:c.10349C>G: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001351702.2:c.1679C>G NP_001338631.1:p.Ala560Gly NC_000020.11:34851276:G:C p.(Ala560Gly) NC_000020.11:34851276:G:C p.(Ala560Gly) NC_000020.11:34851276:G:C Identity +NM_001318520.2:c.3109C>A NP_001305449.1:p.Leu1037Ile NC_000018.10:70024826:G:T p.(Leu1037Ile) NC_000018.10:70024826:G:T p.(Leu1037Ile) NC_000018.10:70024826:G:T Identity +NM_173566.3:c.227G>A NP_775837.2:p.Cys76Tyr NC_000022.11:31738633:C:T p.(Cys76Tyr) NC_000022.11:31738633:C:T p.(Cys76Tyr) NC_000022.11:31738633:C:T Identity +NM_001127258.3:c.2168G>A NP_001120730.1:p.Arg723His NC_000014.9:99675444:G:A p.(Arg723His) NC_000014.9:99675444:G:A p.(Arg723His) NC_000014.9:99675444:G:A Identity +NM_001114759.3:c.1211G>A NP_001108231.1:p.Arg404Gln NC_000001.11:26361954:C:T p.(Arg404Gln) NC_000001.11:26361954:C:T p.(Arg404Gln) NC_000001.11:26361954:C:T Identity +NM_001148.6:c.4658A>G NP_001139.3:p.Glu1553Gly NC_000004.12:113353275:A:G p.(Glu1553Gly) NC_000004.12:113353275:A:G p.(Glu1553Gly) NC_000004.12:113353275:A:G Identity +NM_001283012.2:c.784G>A NP_001269941.1:p.Ala262Thr NC_000008.11:120009118:G:A p.(Ala262Thr) NC_000008.11:120009118:G:A p.(Ala262Thr) NC_000008.11:120009118:G:A Identity +NM_015306.3:c.1121G>A NP_056121.2:p.Arg374His NC_000001.11:55158983:C:T p.(Arg374His) NC_000001.11:55158983:C:T p.(Arg374His) NC_000001.11:55158983:C:T Identity +NM_001190415.2:c.1414C>G NP_001177344.1:p.Leu472Val NC_000007.14:100108521:G:C p.(Leu472Val) NC_000007.14:100108521:G:C p.(Leu472Val) NC_000007.14:100108521:G:C Identity +NM_007058.4:c.1321G>A NP_008989.2:p.Val441Ile NC_000006.12:44177324:G:A p.(Val441Ile) NC_000006.12:44177324:G:A p.(Val441Ile) NC_000006.12:44177324:G:A Identity +NM_001321193.3:c.436A>G NP_001308122.1:p.Thr146Ala NC_000003.12:177050601:T:C p.(Thr146Ala) NC_000003.12:177050601:T:C p.(Thr146Ala) NC_000003.12:177050601:T:C Identity +NM_004508.4:c.34G>A NP_004499.2:p.Gly12Ser NC_000010.11:1048969:C:T p.(Gly12Ser) NC_000010.11:1048969:C:T p.(Gly12Ser) NC_000010.11:1048969:C:T Identity +NM_001321120.2:c.1301C>T NP_001308049.1:p.Thr434Met NC_000017.11:61483175:C:T p.(Thr434Met) NC_000017.11:61483175:C:T p.(Thr434Met) NC_000017.11:61483175:C:T Identity +NM_005216.5:c.14C>G NP_005207.3:p.Thr5Ser NC_000001.11:20661336:G:C p.(Thr5Ser) NC_000001.11:20661336:G:C p.(Thr5Ser) NC_000001.11:20661336:G:C Identity +NM_001143778.2:c.1975A>G NP_001137250.1:p.Lys659Glu NC_000001.11:23433642:T:C p.(Lys659Glu) NC_000001.11:23433642:T:C p.(Lys659Glu) NC_000001.11:23433642:T:C Identity +NM_001267038.2:c.215G>C NP_001253967.1:p.Ser72Thr NC_000005.10:65551589:C:G p.(Ser72Thr) NC_000005.10:65551589:C:G p.(Ser72Thr) NC_000005.10:65551589:C:G Identity +NM_001265589.2:c.2539C>G NP_001252518.1:p.Leu847Val NC_000011.10:63749998:C:G p.(Leu847Val) NC_000011.10:63749998:C:G p.(Leu847Val) NC_000011.10:63749998:C:G Identity +NM_001128918.3:c.2029C>T NP_001122390.2:p.Arg677Trp NC_000014.9:103502993:C:T p.(Arg677Trp) NC_000014.9:103502993:C:T p.(Arg677Trp) NC_000014.9:103502993:C:T Identity +NM_001318949.2:c.1130G>A NP_001305878.1:p.Cys377Tyr NC_000002.12:27255333:C:T p.(Cys377Tyr) NC_000002.12:27255333:C:T p.(Cys377Tyr) NC_000002.12:27255333:C:T Identity +NM_001719.3:c.1204A>C NP_001710.1:p.Asn402His NC_000020.11:57171050:T:G p.(Asn402His) NC_000020.11:57171050:T:G p.(Asn402His) NC_000020.11:57171050:T:G Identity +NM_001286692.2:c.875G>A NP_001273621.1:p.Ser292Asn NC_000008.11:100063856:C:T p.(Ser292Asn) NC_000008.11:100063856:C:T p.(Ser292Asn) NC_000008.11:100063856:C:T Identity +NM_004795.4:c.143C>G NP_004786.2:p.Pro48Arg NC_000013.11:33016582:C:G p.(Pro48Arg) NC_000013.11:33016582:C:G p.(Pro48Arg) NC_000013.11:33016582:C:G Identity +NM_014322.3:c.569T>C NP_055137.2:p.Val190Ala NC_000001.11:241604383:A:G p.(Val190Ala) NC_000001.11:241604383:A:G p.(Val190Ala) NC_000001.11:241604383:A:G Identity +NM_172241.3:c.1310G>T NP_758441.2:p.Trp437Leu NC_000018.10:22416501:C:A p.(Trp437Leu) NC_000018.10:22416501:C:A p.(Trp437Leu) NC_000018.10:22416501:C:A Identity +NM_153018.3:c.554G>A NP_694563.1:p.Arg185Gln NC_000017.11:5092057:G:A p.(Arg185Gln) NC_000017.11:5092057:G:A p.(Arg185Gln) NC_000017.11:5092057:G:A Identity +NM_022569.3:c.2267C>A NP_072091.1:p.Thr756Asn NC_000004.12:114839396:G:T p.(Thr756Asn) NC_000004.12:114839396:G:T p.(Thr756Asn) NC_000004.12:114839396:G:T Identity +NM_001271844.2:c.1040C>A NP_001258773.1:p.Ala347Glu NC_000017.11:79940997:G:T p.(Ala347Glu) NC_000017.11:79940997:G:T p.(Ala347Glu) NC_000017.11:79940997:G:T Identity +NM_001146032.2:c.574G>A NP_001139504.1:p.Glu192Lys NC_000005.10:73006522:G:A p.(Glu192Lys) NC_000005.10:73006522:G:A p.(Glu192Lys) NC_000005.10:73006522:G:A Identity +NM_001144958.2:c.1439C>T NP_001138430.1:p.Pro480Leu NC_000012.12:3638286:G:A p.(Pro480Leu) NC_000012.12:3638286:G:A p.(Pro480Leu) NC_000012.12:3638286:G:A Identity +NM_000318.3:c.631A>C NP_000309.2:p.Ile211Leu NC_000008.11:76983547:T:G p.(Ile211Leu) NC_000008.11:76983547:T:G p.(Ile211Leu) NC_000008.11:76983547:T:G Identity +NM_001039661.2:c.376G>C NP_001034750.1:p.Gly126Arg NC_000011.10:126292784:G:C p.(Gly126Arg) NC_000011.10:126292784:G:C p.(Gly126Arg) NC_000011.10:126292784:G:C Identity +NM_015641.4:c.858G>C NP_056456.1:p.Lys286Asn NC_000007.14:116251914:G:C p.(Lys286Asn) NC_000007.14:116251914:G:C p.(Lys286Asn) NC_000007.14:116251914:G:C Identity +NM_001319654.1:c.611A>C NP_001306583.1:p.Glu204Ala NC_000010.11:43155759:A:C p.(Glu204Ala) NC_000010.11:43155759:A:C p.(Glu204Ala) NC_000010.11:43155759:A:C Identity +NM_020639.3:c.979G>A NP_065690.2:p.Asp327Asn NC_000021.9:41744097:C:T p.(Asp327Asn) NC_000021.9:41744097:C:T p.(Asp327Asn) NC_000021.9:41744097:C:T Identity +NM_001288985.2:c.3137A>T NP_001275914.1:p.Asp1046Val NC_000017.11:68891495:T:A p.(Asp1046Val) NC_000017.11:68891495:T:A p.(Asp1046Val) NC_000017.11:68891495:T:A Identity +NM_001012659.2:c.684C>G NP_001012677.1:p.Phe228Leu NC_000003.12:121586335:C:G p.(Phe228Leu) NC_000003.12:121586335:C:G p.(Phe228Leu) NC_000003.12:121586335:C:G Identity +NM_018909.4:c.753A>G NP_061732.1:p.Ile251Met NC_000005.10:140828843:A:G p.(Ile251Met) NC_000005.10:140828843:A:G p.(Ile251Met) NC_000005.10:140828843:A:G Identity +NM_007344.4:c.319G>T NP_031370.2:p.Val107Leu NC_000009.12:132402502:C:A p.(Val107Leu) NC_000009.12:132402502:C:A p.(Val107Leu) NC_000009.12:132402502:C:A Identity +NM_007224.4:c.686G>A NP_009155.1:p.Arg229His NC_000012.12:57225505:G:A p.(Arg229His) NC_000012.12:57225505:G:A p.(Arg229His) NC_000012.12:57225505:G:A Identity +NM_000302.4:c.533G>A NP_000293.2:p.Ser178Asn NC_000001.11:11952688:G:A p.(Ser178Asn) NC_000001.11:11952688:G:A p.(Ser178Asn) NC_000001.11:11952688:G:A Identity +NM_001351702.2:c.490G>A NP_001338631.1:p.Val164Met NC_000020.11:34862880:C:T p.(Val164Met) NC_000020.11:34862880:C:T p.(Val164Met) NC_000020.11:34862880:C:T Identity +NM_014714.4:c.3379G>A NP_055529.2:p.Ala1127Thr NC_000016.10:1523591:C:T p.(Ala1127Thr) NC_000016.10:1523591:C:T p.(Ala1127Thr) NC_000016.10:1523591:C:T Identity +NM_014372.5:c.322T>C NP_055187.1:p.Tyr108His NC_000001.11:51271178:T:C p.(Tyr108His) NC_000001.11:51271178:T:C p.(Tyr108His) NC_000001.11:51271178:T:C Identity +NM_001354989.2:c.2438T>G NP_001341918.1:p.Leu813Arg NC_000005.10:180620276:A:C p.(Leu813Arg) NC_000005.10:180620276:A:C p.(Leu813Arg) NC_000005.10:180620276:A:C Identity +NM_016589.4:c.91G>A NP_057673.2:p.Asp31Asn NC_000003.12:119498823:G:A p.(Asp31Asn) NC_000003.12:119498823:G:A p.(Asp31Asn) NC_000003.12:119498823:G:A Identity +NM_001128608.2:c.1049T>C NP_001122080.1:p.Leu350Ser NC_000015.10:41814599:T:C p.(Leu350Ser) NC_000015.10:41814599:T:C p.(Leu350Ser) NC_000015.10:41814599:T:C Identity +NM_014891.7:c.92A>G NP_055706.1:p.Lys31Arg NC_000007.14:99404874:T:C p.(Lys31Arg) NC_000007.14:99404874:T:C p.(Lys31Arg) NC_000007.14:99404874:T:C Identity +NM_001168322.2:c.64C>T NP_001161794.1:p.Pro22Ser NC_000017.11:43848577:C:T p.(Pro22Ser) NC_000017.11:43848577:C:T p.(Pro22Ser) NC_000017.11:43848577:C:T Identity +NM_001166271.3:c.1661C>G NP_001159743.1:p.Pro554Arg NC_000013.11:24249483:C:G p.(Pro554Arg) NC_000013.11:24249483:C:G p.(Pro554Arg) NC_000013.11:24249483:C:G Identity +NM_001282663.2:c.410T>A NP_001269592.1:p.Leu137His NC_000011.10:12204394:T:A p.(Leu137His) NC_000011.10:12204394:T:A p.(Leu137His) NC_000011.10:12204394:T:A Identity +NM_013265.4:c.1330G>A NP_037397.2:p.Glu444Lys NC_000011.10:65108800:G:A p.(Glu444Lys) NC_000011.10:65108800:G:A p.(Glu444Lys) NC_000011.10:65108800:G:A Identity +NM_031903.3:c.122C>T NP_114109.1:p.Pro41Leu NC_000007.14:42932507:C:T p.(Pro41Leu) NC_000007.14:42932507:C:T p.(Pro41Leu) NC_000007.14:42932507:C:T Identity +NM_001329998.2:c.3164G>C NP_001316927.1:p.Gly1055Ala NC_000003.12:36856557:C:G p.(Gly1055Ala) NC_000003.12:36856557:C:G p.(Gly1055Ala) NC_000003.12:36856557:C:G Identity +NM_001130161.4:c.1899G>C NP_001123633.1:p.Glu633Asp NC_000010.11:68885694:G:C p.(Glu633Asp) NC_000010.11:68885694:G:C p.(Glu633Asp) NC_000010.11:68885694:G:C Identity +NM_001198815.1:c.4603A>G NP_001185744.1:p.Thr1535Ala NC_000006.12:31030033:A:G p.(Thr1535Ala) NC_000006.12:31030033:A:G p.(Thr1535Ala) NC_000006.12:31030033:A:G Identity +NM_001358291.2:c.610G>C NP_001345220.1:p.Glu204Gln NC_000009.12:84001595:G:C p.(Glu204Gln) NC_000009.12:84001595:G:C p.(Glu204Gln) NC_000009.12:84001595:G:C Identity +NM_000785.4:c.1318C>T NP_000776.1:p.Pro440Ser NC_000012.12:57763705:G:A p.(Pro440Ser) NC_000012.12:57763705:G:A p.(Pro440Ser) NC_000012.12:57763705:G:A Identity +NM_001352260.2:c.2335T>C NP_001339189.1:p.Tyr779His NC_000019.10:30547953:T:C p.(Tyr779His) NC_000019.10:30547953:T:C p.(Tyr779His) NC_000019.10:30547953:T:C Identity +NM_015049.3:c.2739G>C NP_055864.2:p.Glu913Asp NC_000002.12:201380548:C:G p.(Glu913Asp) NC_000002.12:201380548:C:G p.(Glu913Asp) NC_000002.12:201380548:C:G Identity +NM_001276385.2:c.130C>T NP_001263314.1:p.Arg44Cys NC_000015.10:60476078:G:A p.(Arg44Cys) NC_000015.10:60476078:G:A p.(Arg44Cys) NC_000015.10:60476078:G:A Identity +NM_018924.5:c.1436C>G NP_061747.2:p.Pro479Arg NC_000005.10:141371829:C:G p.(Pro479Arg) NC_000005.10:141371829:C:G p.(Pro479Arg) NC_000005.10:141371829:C:G Identity +NM_000296.4:c.12662T>C NP_000287.4:p.Leu4221Pro NC_000016.10:2089973:A:G p.(Leu4221Pro) NC_000016.10:2089973:A:G p.(Leu4221Pro) NC_000016.10:2089973:A:G Identity +NM_014046.4:c.65C>T NP_054765.1:p.Ser22Phe NC_000006.12:30617929:C:T p.(Ser22Phe) NC_000006.12:30617929:C:T p.(Ser22Phe) NC_000006.12:30617929:C:T Identity +NM_001139456.2:c.499A>G NP_001132928.1:p.Thr167Ala NC_000007.14:138656482:T:C p.(Thr167Ala) NC_000007.14:138656482:T:C p.(Thr167Ala) NC_000007.14:138656482:T:C Identity +NM_001278425.3:c.1556T>C NP_001265354.2:p.Ile519Thr NC_000016.10:81160771:A:G p.(Ile519Thr) NW_025791800.1:209032:A:G p.(Ile519Thr) NC_000016.10:209032:A:G Identity +NM_001130167.2:c.585G>C NP_001123639.1:p.Leu195Phe NC_000019.10:42758125:C:G p.(Leu195Phe) NC_000019.10:42758125:C:G p.(Leu195Phe) NC_000019.10:42758125:C:G Identity +NM_001320033.2:c.677T>C NP_001306962.1:p.Phe226Ser NC_000003.12:38307621:T:C p.(Phe226Ser) NC_000003.12:38307621:T:C p.(Phe226Ser) NC_000003.12:38307621:T:C Identity +NM_001135924.3:c.1868G>T NP_001129396.1:p.Cys623Phe NC_000007.14:12370437:C:A p.(Cys623Phe) NC_000007.14:12370437:C:A p.(Cys623Phe) NC_000007.14:12370437:C:A Identity +NM_024762.3:c.55G>A NP_079038.2:p.Val19Met NC_000019.10:57813398:C:T p.(Val19Met) NC_000019.10:57813398:C:T p.(Val19Met) NC_000019.10:57813398:C:T Identity +NM_004444.5:c.1616C>A NP_004435.3:p.Ala539Asp NC_000007.14:100813993:G:T p.(Ala539Asp) NC_000007.14:100813993:G:T p.(Ala539Asp) NC_000007.14:100813993:G:T Identity +NM_001099220.3:c.3143G>T NP_001092690.1:p.Arg1048Leu NC_000007.14:149862302:G:T p.(Arg1048Leu) NC_000007.14:149862302:G:T p.(Arg1048Leu) NC_000007.14:149862302:G:T Identity +NM_001143986.2:c.833A>G NP_001137458.1:p.Glu278Gly NC_000019.10:2989152:A:G p.(Glu278Gly) NC_000019.10:2989152:A:G p.(Glu278Gly) NC_000019.10:2989152:A:G Identity +NM_016148.5:c.4505C>T NP_057232.2:p.Ala1502Val NC_000019.10:50667454:G:A p.(Ala1502Val) NC_000019.10:50667454:G:A p.(Ala1502Val) NC_000019.10:50667454:G:A Identity +NM_001128204.2:c.272G>A NP_001121676.1:p.Arg91Gln NC_000008.11:69576068:G:A p.(Arg91Gln) NC_000008.11:69576068:G:A p.(Arg91Gln) NC_000008.11:69576068:G:A Identity +NM_001393379.1:c.1175T>C NP_001380308.1:p.Val392Ala NC_000009.12:39171526:A:G p.(Val392Ala) NC_000009.12:39171526:A:G p.(Val392Ala) NC_000009.12:39171526:A:G Identity +NM_001290321.3:c.77A>G NP_001277250.1:p.Gln26Arg NC_000005.10:119071645:A:G p.(Gln26Arg) NC_000005.10:119071645:A:G p.(Gln26Arg) NC_000005.10:119071645:A:G Identity +NM_001351397.2:c.914C>T NP_001338326.1:p.Ala305Val NC_000009.12:110875601:G:A p.(Ala305Val) NC_000009.12:110875601:G:A p.(Ala305Val) NC_000009.12:110875601:G:A Identity +NM_001145648.3:c.2312C>T NP_001139120.1:p.Ser771Leu NC_000015.10:79003938:G:A p.(Ser771Leu) NC_000015.10:79003938:G:A p.(Ser771Leu) NC_000015.10:79003938:G:A Identity +NM_001161546.2:c.2627C>G NP_001155018.1:p.Ala876Gly NC_000005.10:139392454:G:C p.(Ala876Gly) NC_000005.10:139392454:G:C p.(Ala876Gly) NC_000005.10:139392454:G:C Identity +NM_000842.5:c.1082A>G NP_000833.1:p.His361Arg NC_000011.10:88653232:T:C p.(His361Arg) NC_000011.10:88653232:T:C p.(His361Arg) NC_000011.10:88653232:T:C Identity +NM_001015887.3:c.1253C>G NP_001015887.1:p.Pro418Arg NC_000003.12:118902562:G:C p.(Pro418Arg) NC_000003.12:118902562:G:C p.(Pro418Arg) NC_000003.12:118902562:G:C Identity +NM_003851.3:c.32C>T NP_003842.1:p.Ala11Val NC_000001.11:167553709:G:A p.(Ala11Val) NC_000001.11:167553709:G:A p.(Ala11Val) NC_000001.11:167553709:G:A Identity +NM_001164460.2:c.97G>A NP_001157932.1:p.Gly33Arg NC_000007.14:22493823:C:T p.(Gly33Arg) NC_000007.14:22493823:C:T p.(Gly33Arg) NC_000007.14:22493823:C:T Identity +NM_001281517.3:c.53C>T NP_001268446.1:p.Pro18Leu NC_000001.11:26239835:C:T p.(Pro18Leu) NC_000001.11:26239835:C:T p.(Pro18Leu) NC_000001.11:26239835:C:T Identity +NM_001033057.2:c.1124T>C NP_001028229.1:p.Ile375Thr NC_000003.12:65442803:A:G p.(Ile375Thr) NC_000003.12:65442803:A:G p.(Ile375Thr) NC_000003.12:65442803:A:G Identity +NM_015409.5:c.2290C>T NP_056224.3:p.Pro764Ser NC_000012.12:131987770:C:T p.(Pro764Ser) NC_000012.12:131987770:C:T p.(Pro764Ser) NC_000012.12:131987770:C:T Identity +NM_001145017.2:c.865G>A NP_001138489.1:p.Ala289Thr NC_000005.10:151284677:C:T p.(Ala289Thr) NC_000005.10:151284677:C:T p.(Ala289Thr) NC_000005.10:151284677:C:T Identity +NM_001369598.1:c.97T>C NP_001356527.1:p.Phe33Leu NC_000007.14:116953636:T:C p.(Phe33Leu) NC_000007.14:116953636:T:C p.(Phe33Leu) NC_000007.14:116953636:T:C Identity +NM_007058.4:c.1235C>G NP_008989.2:p.Pro412Arg NC_000006.12:44176995:C:G p.(Pro412Arg) NC_000006.12:44176995:C:G p.(Pro412Arg) NC_000006.12:44176995:C:G Identity +NM_001080539.2:c.757A>C NP_001074008.1:p.Lys253Gln NC_000002.12:196665677:A:C p.(Lys253Gln) NC_000002.12:196665677:A:C p.(Lys253Gln) NC_000002.12:196665677:A:C Identity +NM_001145206.2:c.476C>A NP_001138678.1:p.Ala159Glu NC_000022.11:25028474:C:A p.(Ala159Glu) NC_000022.11:25028474:C:A p.(Ala159Glu) NC_000022.11:25028474:C:A Identity +NM_000687.4:c.727G>A NP_000678.1:p.Glu243Lys NC_000020.11:34290769:C:T p.(Glu243Lys) NC_000020.11:34290769:C:T p.(Glu243Lys) NC_000020.11:34290769:C:T Identity +NM_001318932.2:c.121C>T NP_001305861.1:p.Arg41Cys NC_000013.11:42786783:C:T p.(Arg41Cys) NC_000013.11:42786783:C:T p.(Arg41Cys) NC_000013.11:42786783:C:T Identity +NM_001406365.1:c.2198C>T NP_001393294.1:p.Ala733Val NC_000010.11:68644926:C:T p.(Ala733Val) NC_000010.11:68644926:C:T p.(Ala733Val) NC_000010.11:68644926:C:T Identity +NM_005215.4:c.263G>C NP_005206.2:p.Arg88Thr NC_000018.10:52752224:G:C p.(Arg88Thr) NC_000018.10:52752224:G:C p.(Arg88Thr) NC_000018.10:52752224:G:C Identity +NM_080603.5:c.1211G>A NP_542170.3:p.Arg404His NC_000020.11:45883802:G:A p.(Arg404His) NC_000020.11:45883802:G:A p.(Arg404His) NC_000020.11:45883802:G:A Identity +NM_003890.3:c.12740G>C NP_003881.2:p.Arg4247Pro NC_000019.10:39877967:C:G ERR:TranscriptMismatch:expected G, found C at transcript indices 12755..12756 NC_000019.10:39863400:G:G ERR:Variant is outside CDS bounds (CDS length : 12654) ERR:Variant is outside CDS bounds (CDS length : 12654) Unknown +NM_001035223.4:c.2006G>A NP_001030300.3:p.Gly669Glu NC_000019.10:11397251:C:T p.(Gly669Glu) NC_000019.10:11397251:C:T p.(Gly669Glu) NC_000019.10:11397251:C:T Identity +NM_001199207.2:c.1426C>G NP_001186136.1:p.Leu476Val NC_000007.14:74536195:C:G p.(Leu476Val) NC_000007.14:74536195:C:G p.(Leu476Val) NC_000007.14:74536195:C:G Identity +NM_015473.4:c.4882A>C NP_056288.2:p.Ile1628Leu NC_000014.9:31306815:T:G p.(Ile1628Leu) NC_000014.9:31306815:T:G p.(Ile1628Leu) NC_000014.9:31306815:T:G Identity +NM_001297595.2:c.3024C>A NP_001284524.1:p.Ser1008Arg NC_000019.10:16878251:C:A p.(Ser1008Arg) NC_000019.10:16878251:C:A p.(Ser1008Arg) NC_000019.10:16878251:C:A Identity +NM_178428.4:c.98C>T NP_848515.1:p.Pro33Leu NC_000001.11:152698998:C:T p.(Pro33Leu) NC_000001.11:152698998:C:T p.(Pro33Leu) NC_000001.11:152698998:C:T Identity +NM_001411012.1:c.8582T>G NP_001397941.1:p.Met2861Arg NC_000013.11:32289735:T:G p.(Met2861Arg) NC_000013.11:32289735:T:G p.(Met2861Arg) NC_000013.11:32289735:T:G Identity +NM_022481.6:c.226G>C NP_071926.4:p.Asp76His NC_000005.10:141680260:C:G p.(Asp76His) NC_000005.10:141680260:C:G p.(Asp76His) NC_000005.10:141680260:C:G Identity +NM_001197104.2:c.6374C>G NP_001184033.1:p.Pro2125Arg NC_000011.10:118501725:C:G p.(Pro2125Arg) NC_000011.10:118501725:C:G p.(Pro2125Arg) NC_000011.10:118501725:C:G Identity +NM_001302378.2:c.974T>C NP_001289307.1:p.Val325Ala NC_000003.12:15078098:A:G p.(Val325Ala) NC_000003.12:15078098:A:G p.(Val325Ala) NC_000003.12:15078098:A:G Identity +NM_001163315.3:c.217C>T NP_001156787.2:p.Pro73Ser NC_000005.10:108381474:G:A p.(Pro73Ser) NC_000005.10:108381474:G:A p.(Pro73Ser) NC_000005.10:108381474:G:A Identity +NM_015241.3:c.3244G>A NP_056056.2:p.Glu1082Lys NC_000022.11:17823009:C:T p.(Glu1082Lys) NC_000022.11:17823009:C:T p.(Glu1082Lys) NC_000022.11:17823009:C:T Identity +NM_001002264.4:c.85G>A NP_001002264.1:p.Gly29Arg NC_000013.11:42992080:C:T p.(Gly29Arg) NC_000013.11:42992080:C:T p.(Gly29Arg) NC_000013.11:42992080:C:T Identity +NM_001036.6:c.8725G>A NP_001027.3:p.Ala2909Thr NC_000015.10:33768676:G:A p.(Ala2909Thr) NC_000015.10:33768676:G:A p.(Ala2909Thr) NC_000015.10:33768676:G:A Identity +NM_001099733.2:c.218C>T NP_001093203.1:p.Ala73Val NC_000018.10:907765:C:T p.(Ala73Val) NC_000018.10:907765:C:T p.(Ala73Val) NC_000018.10:907765:C:T Identity +NM_006292.4:c.1009G>A NP_006283.1:p.Ala337Thr NC_000011.10:18481703:C:T p.(Ala337Thr) NC_000011.10:18481703:C:T p.(Ala337Thr) NC_000011.10:18481703:C:T Identity +NM_001136002.2:c.629G>A NP_001129474.1:p.Gly210Asp NC_000007.14:124032374:C:T p.(Gly210Asp) NC_000007.14:124032374:C:T p.(Gly210Asp) NC_000007.14:124032374:C:T Identity +NM_020825.4:c.206C>T NP_065876.3:p.Pro69Leu NC_000016.10:1614844:C:T p.(Pro69Leu) NC_000016.10:1614844:C:T p.(Pro69Leu) NC_000016.10:1614844:C:T Identity +NM_005560.6:c.4844T>C NP_005551.3:p.Phe1615Ser NC_000020.11:62327622:A:G p.(Phe1615Ser) NC_000020.11:62327622:A:G p.(Phe1615Ser) NC_000020.11:62327622:A:G Identity +NM_003655.3:c.209G>A NP_003646.2:p.Arg70Gln NC_000017.11:79835682:C:T p.(Arg70Gln) NC_000017.11:79835682:C:T p.(Arg70Gln) NC_000017.11:79835682:C:T Identity +NM_000627.4:c.2529G>C NP_000618.4:p.Lys843Asn NC_000002.12:33309458:G:C p.(Lys843Asn) NC_000002.12:33309458:G:C p.(Lys843Asn) NC_000002.12:33309458:G:C Identity +NM_001171091.2:c.722A>G NP_001164562.1:p.Asn241Ser NC_000019.10:4446538:T:C p.(Asn241Ser) NC_000019.10:4446538:T:C p.(Asn241Ser) NC_000019.10:4446538:T:C Identity +NM_001367830.1:c.2479G>A NP_001354759.1:p.Gly827Ser NC_000019.10:11235672:C:T p.(Gly827Ser) NC_000019.10:11235672:C:T p.(Gly827Ser) NC_000019.10:11235672:C:T Identity +NM_033085.3:c.389A>G NP_149076.1:p.Asn130Ser NC_000023.11:151721949:A:G p.(Asn130Ser) NC_000023.11:151721949:A:G p.(Asn130Ser) NC_000023.11:151721949:A:G Identity +NM_024743.4:c.230T>G NP_079019.3:p.Val77Gly NC_000004.12:68951530:A:C p.(Val77Gly) NC_000004.12:68951530:A:C p.(Val77Gly) NC_000004.12:68951530:A:C Identity +NM_001042475.3:c.689A>G NP_001035940.1:p.Tyr230Cys NC_000006.12:118565859:T:C p.(Tyr230Cys) NC_000006.12:118565859:T:C p.(Tyr230Cys) NC_000006.12:118565859:T:C Identity +NM_001394011.1:c.901A>G NP_001380940.1:p.Met301Val NC_000019.10:5245823:T:C p.(Met301Val) NC_000019.10:5245823:T:C p.(Met301Val) NC_000019.10:5245823:T:C Identity +NM_001303472.2:c.623A>T NP_001290401.1:p.Lys208Ile NC_000020.11:10049758:A:T p.(Lys208Ile) NC_000020.11:10049758:A:T p.(Lys208Ile) NC_000020.11:10049758:A:T Identity +NM_000208.4:c.1238G>A NP_000199.2:p.Arg413His NC_000019.10:7172319:C:T p.(Arg413His) NC_000019.10:7172319:C:T p.(Arg413His) NC_000019.10:7172319:C:T Identity +NM_001077624.3:c.1484T>C NP_001071092.1:p.Val495Ala NC_000019.10:9757592:A:G p.(Val495Ala) NC_000019.10:9757592:A:G p.(Val495Ala) NC_000019.10:9757592:A:G Identity +NM_001365116.2:c.5680C>G NP_001352045.1:p.Leu1894Val NC_000003.12:47003876:C:G p.(Leu1894Val) NC_000003.12:47003876:C:G p.(Leu1894Val) NC_000003.12:47003876:C:G Identity +NM_014981.3:c.5611A>C NP_055796.2:p.Lys1871Gln NC_000003.12:108384706:T:G p.(Lys1871Gln) NC_000003.12:108384706:T:G p.(Lys1871Gln) NC_000003.12:108384706:T:G Identity +NM_001252036.2:c.557C>T NP_001238965.1:p.Pro186Leu NC_000012.12:55992120:C:T p.(Pro186Leu) NC_000012.12:55992120:C:T p.(Pro186Leu) NC_000012.12:55992120:C:T Identity +NM_001447.3:c.3151G>C NP_001438.1:p.Val1051Leu NC_000005.10:151565780:C:G p.(Val1051Leu) NC_000005.10:151565780:C:G p.(Val1051Leu) NC_000005.10:151565780:C:G Identity +NM_003749.3:c.560T>G NP_003740.2:p.Val187Gly NC_000013.11:109785493:A:C p.(Val187Gly) NC_000013.11:109785493:A:C p.(Val187Gly) NC_000013.11:109785493:A:C Identity +NM_033054.3:c.1538G>T NP_149043.2:p.Arg513Leu NC_000007.14:44969448:C:A p.(Arg513Leu) NC_000007.14:44969448:C:A p.(Arg513Leu) NC_000007.14:44969448:C:A Identity +NM_001199772.2:c.270G>C NP_001186701.1:p.Glu90Asp NC_000001.11:109411890:C:G p.(Glu90Asp) NC_000001.11:109411890:C:G p.(Glu90Asp) NC_000001.11:109411890:C:G Identity +NM_001077186.2:c.1848C>G NP_001070654.1:p.Asn616Lys NC_000019.10:50252655:C:G p.(Asn616Lys) NC_000019.10:50252655:C:G p.(Asn616Lys) NC_000019.10:50252655:C:G Identity +NM_001122841.3:c.902G>C NP_001116313.1:p.Arg301Thr NC_000006.12:168060996:C:G p.(Arg301Thr) NC_000006.12:168060996:C:G p.(Arg301Thr) NC_000006.12:168060996:C:G Identity +NM_006836.2:c.7556C>T NP_006827.1:p.Ala2519Val NC_000012.12:120131191:G:A p.(Ala2519Val) NC_000012.12:120131191:G:A p.(Ala2519Val) NC_000012.12:120131191:G:A Identity +NM_133373.5:c.1215T>G NP_588614.1:p.Ile405Met NC_000017.11:45118038:A:C p.(Ile405Met) NC_000017.11:45118038:A:C p.(Ile405Met) NC_000017.11:45118038:A:C Identity +NM_001256106.3:c.1849T>A NP_001243035.1:p.Ser617Thr NC_000001.11:117018391:T:A p.(Ser617Thr) NC_000001.11:117018391:T:A p.(Ser617Thr) NC_000001.11:117018391:T:A Identity +NM_001316349.2:c.4702A>G NP_001303278.1:p.Ile1568Val NC_000002.12:137667823:A:G p.(Ile1568Val) NC_000002.12:137667823:A:G p.(Ile1568Val) NC_000002.12:137667823:A:G Identity +NM_207363.3:c.4817A>G NP_997246.2:p.His1606Arg NC_000002.12:132781993:T:C p.(His1606Arg) NC_000002.12:132781993:T:C p.(His1606Arg) NC_000002.12:132781993:T:C Identity +NM_001363705.2:c.1583T>C NP_001350634.1:p.Ile528Thr NC_000006.12:42635454:T:C p.(Ile528Thr) NC_000006.12:42635454:T:C p.(Ile528Thr) NC_000006.12:42635454:T:C Identity +NM_001257378.2:c.88G>T NP_001244307.1:p.Asp30Tyr NC_000022.11:30468611:C:A p.(Asp30Tyr) NC_000022.11:30468611:C:A p.(Asp30Tyr) NC_000022.11:30468611:C:A Identity +NM_001013436.4:c.202C>A NP_001013454.1:p.Arg68Ser NC_000022.11:37024416:C:A p.(Arg68Ser) NC_000022.11:37024416:C:A p.(Arg68Ser) NC_000022.11:37024416:C:A Identity +NM_001040105.2:c.13462G>A NP_001035194.1:p.Val4488Ile NC_000007.14:101058023:G:A p.(Val4488Ile) NC_000007.14:101058023:G:A p.(Val4488Ile) NC_000007.14:101058023:G:A Identity +NM_001284356.2:c.152G>A NP_001271285.1:p.Gly51Glu NC_000008.11:10832961:C:T p.(Gly51Glu) NC_000008.11:10832961:C:T p.(Gly51Glu) NC_000008.11:10832961:C:T Identity +NM_001184740.2:c.836G>A NP_001171669.1:p.Arg279Gln NC_000011.10:70422984:G:A p.(Arg279Gln) NC_000011.10:70422984:G:A p.(Arg279Gln) NC_000011.10:70422984:G:A Identity +NM_015458.4:c.407A>C NP_056273.2:p.Tyr136Ser NC_000008.11:11300137:A:C p.(Tyr136Ser) NC_000008.11:11300137:A:C p.(Tyr136Ser) NC_000008.11:11300137:A:C Identity +NM_178857.6:c.610G>A NP_849188.4:p.Val204Met NC_000008.11:10616586:C:T p.(Val204Met) NC_000008.11:10616586:C:T p.(Val204Met) NC_000008.11:10616586:C:T Identity +NM_033553.3:c.177C>G NP_291031.2:p.Ile59Met NC_000001.11:42163508:G:C p.(Ile59Met) NC_000001.11:42163508:G:C p.(Ile59Met) NC_000001.11:42163508:G:C Identity +NM_003559.5:c.1214A>G NP_003550.1:p.Lys405Arg NC_000017.11:38769727:T:C p.(Lys405Arg) NC_000017.11:38769727:T:C p.(Lys405Arg) NC_000017.11:38769727:T:C Identity +NM_001136191.3:c.580G>A NP_001129663.1:p.Gly194Ser NC_000019.10:11193499:C:T p.(Gly194Ser) NC_000019.10:11193499:C:T p.(Gly194Ser) NC_000019.10:11193499:C:T Identity +NM_052813.5:c.47G>A NP_434700.2:p.Gly16Asp NC_000009.12:136372031:C:T p.(Gly16Asp) NC_000009.12:136372031:C:T p.(Gly16Asp) NC_000009.12:136372031:C:T Identity +NM_001245002.2:c.1243G>C NP_001231931.1:p.Asp415His NC_000019.10:3452639:G:C p.(Asp415His) NC_000019.10:3452639:G:C p.(Asp415His) NC_000019.10:3452639:G:C Identity +NM_001134493.2:c.199C>G NP_001127965.1:p.Leu67Val NC_000006.12:41789301:C:G p.(Leu67Val) NC_000006.12:41789301:C:G p.(Leu67Val) NC_000006.12:41789301:C:G Identity +NM_139318.5:c.2752A>G NP_647479.2:p.Lys918Glu NC_000014.9:62707722:T:C p.(Lys918Glu) NC_000014.9:62707722:T:C p.(Lys918Glu) NC_000014.9:62707722:T:C Identity +NM_003970.4:c.1983C>G NP_003961.3:p.His661Gln NC_000008.11:2092499:C:G p.(His661Gln) NC_000008.11:2092499:C:G p.(His661Gln) NC_000008.11:2092499:C:G Identity +NM_018158.3:c.754A>G NP_060628.3:p.Lys252Glu NC_000002.12:27665189:A:G p.(Lys252Glu) NC_000002.12:27665189:A:G p.(Lys252Glu) NC_000002.12:27665189:A:G Identity +NM_001329457.2:c.781G>A NP_001316386.1:p.Gly261Ser NC_000022.11:30122175:G:A p.(Gly261Ser) NC_000022.11:30122175:G:A p.(Gly261Ser) NC_000022.11:30122175:G:A Identity +NM_001042625.2:c.4G>T NP_001036090.1:p.Ala2Ser NC_000005.10:35921116:C:A p.(Ala2Ser) NC_000005.10:35921116:C:A p.(Ala2Ser) NC_000005.10:35921116:C:A Identity +NM_001256394.2:c.482C>A NP_001243323.1:p.Ser161Tyr NC_000009.12:92315938:G:T p.(Ser161Tyr) NC_000009.12:92315938:G:T p.(Ser161Tyr) NC_000009.12:92315938:G:T Identity +NM_001370.2:c.10052T>A NP_001361.1:p.Leu3351His NC_000002.12:84727747:T:A p.(Leu3351His) NC_000002.12:84727747:T:A p.(Leu3351His) NC_000002.12:84727747:T:A Identity +NM_001320808.2:c.977C>G NP_001307737.1:p.Ser326Cys NC_000001.11:211750034:G:C p.(Ser326Cys) NC_000001.11:211750034:G:C p.(Ser326Cys) NC_000001.11:211750034:G:C Identity +NM_001130527.3:c.815C>T NP_001123999.1:p.Ala272Val NC_000017.11:51021291:G:A p.(Ala272Val) NC_000017.11:51021291:G:A p.(Ala272Val) NC_000017.11:51021291:G:A Identity +NM_000574.5:c.4A>G NP_000565.1:p.Thr2Ala NC_000001.11:207321768:A:G p.(Thr2Ala) NC_000001.11:207321768:A:G p.(Thr2Ala) NC_000001.11:207321768:A:G Identity +NM_001145206.2:c.1334G>T NP_001138678.1:p.Arg445Leu NC_000022.11:25029332:G:T p.(Arg445Leu) NC_000022.11:25029332:G:T p.(Arg445Leu) NC_000022.11:25029332:G:T Identity +NM_001142621.3:c.1226A>G NP_001136093.1:p.Asp409Gly NC_000002.12:105280618:T:C p.(Asp409Gly) NC_000002.12:105280618:T:C p.(Asp409Gly) NC_000002.12:105280618:T:C Identity +NM_001136193.2:c.1028T>C NP_001129665.1:p.Leu343Ser NC_000002.12:206771930:T:C p.(Leu343Ser) NC_000002.12:206771930:T:C p.(Leu343Ser) NC_000002.12:206771930:T:C Identity +NM_001005369.1:c.1454T>C NP_001005369.1:p.Leu485Pro NC_000002.12:55243525:A:G p.(Leu485Pro) NC_000002.12:55243525:A:G p.(Leu485Pro) NC_000002.12:55243525:A:G Identity +NM_001382637.1:c.1524G>C NP_001369566.1:p.Gln508His NC_000015.10:31484571:C:G p.(Gln508His) NC_000015.10:31484571:C:G p.(Gln508His) NC_000015.10:31484571:C:G Identity +NM_001371457.1:c.361A>G NP_001358386.1:p.Thr121Ala NC_000002.12:134270504:A:G p.(Thr121Ala) NC_000002.12:134270504:A:G p.(Thr121Ala) NC_000002.12:134270504:A:G Identity +NM_001143948.2:c.23T>C NP_001137420.1:p.Ile8Thr NC_000006.12:11778736:A:G p.(Ile8Thr) NC_000006.12:11778736:A:G p.(Ile8Thr) NC_000006.12:11778736:A:G Identity +NM_005751.5:c.3411T>A NP_005742.4:p.Asn1137Lys NC_000007.14:92012520:T:A p.(Asn1137Lys) NC_000007.14:92012520:T:A p.(Asn1137Lys) NC_000007.14:92012520:T:A Identity +NM_001029864.2:c.2854C>G NP_001025035.1:p.Arg952Gly NC_000020.11:38217299:G:C p.(Arg952Gly) NC_000020.11:38217299:G:C p.(Arg952Gly) NC_000020.11:38217299:G:C Identity +NM_014607.4:c.370G>A NP_055422.1:p.Gly124Ser NC_000002.12:135755552:G:A p.(Gly124Ser) NC_000002.12:135755552:G:A p.(Gly124Ser) NC_000002.12:135755552:G:A Identity +NM_001160417.2:c.464T>C NP_001153889.1:p.Met155Thr NC_000020.11:57614924:A:G p.(Met155Thr) NC_000020.11:57614924:A:G p.(Met155Thr) NC_000020.11:57614924:A:G Identity +NM_001011649.3:c.691A>G NP_001011649.1:p.Lys231Glu NC_000009.12:120530111:T:C p.(Lys231Glu) NC_000009.12:120530111:T:C p.(Lys231Glu) NC_000009.12:120530111:T:C Identity +NM_001258426.2:c.540G>T NP_001245355.1:p.Glu180Asp NC_000005.10:140361841:G:T p.(Glu180Asp) NC_000005.10:140361841:G:T p.(Glu180Asp) NC_000005.10:140361841:G:T Identity +NM_001288629.2:c.1252G>A NP_001275558.1:p.Val418Ile NC_000006.12:93356788:C:T p.(Val418Ile) NC_000006.12:93356788:C:T p.(Val418Ile) NC_000006.12:93356788:C:T Identity +NM_015848.4:c.986T>G NP_056932.2:p.Met329Arg NC_000012.12:52772244:A:C p.(Met329Arg) NC_000012.12:52772244:A:C p.(Met329Arg) NC_000012.12:52772244:A:C Identity +NM_138295.5:c.2686A>T NP_612152.1:p.Ile896Phe NC_000007.14:47888139:T:A p.(Ile896Phe) NC_000007.14:47888139:T:A p.(Ile896Phe) NC_000007.14:47888139:T:A Identity +NM_015657.4:c.3664G>T NP_056472.2:p.Ala1222Ser NC_000002.12:214980604:C:A p.(Ala1222Ser) NC_000002.12:214980604:C:A p.(Ala1222Ser) NC_000002.12:214980604:C:A Identity +NM_001363889.2:c.268C>G NP_001350818.1:p.His90Asp NC_000003.12:133657892:G:C p.(His90Asp) NC_000003.12:133657892:G:C p.(His90Asp) NC_000003.12:133657892:G:C Identity +NM_001129742.2:c.31T>C NP_001123214.1:p.Phe11Leu NC_000010.11:103479001:A:G p.(Phe11Leu) NC_000010.11:103479001:A:G p.(Phe11Leu) NC_000010.11:103479001:A:G Identity +NM_001003694.2:c.1826G>T NP_001003694.1:p.Arg609Leu NC_000003.12:9741410:G:T p.(Arg609Leu) NC_000003.12:9741410:G:T p.(Arg609Leu) NC_000003.12:9741410:G:T Identity +NM_001365693.1:c.3898G>C NP_001352622.1:p.Ala1300Pro NC_000007.14:142059549:G:C p.(Ala1300Pro) NC_000007.14:142059549:G:C p.(Ala1300Pro) NC_000007.14:142059549:G:C Identity +NM_175882.3:c.2002A>C NP_787078.2:p.Lys668Gln NC_000017.11:45846907:A:C p.(Lys668Gln) NC_000017.11:45846907:A:C p.(Lys668Gln) NC_000017.11:45846907:A:C Identity +NM_000341.4:c.1357C>G NP_000332.2:p.Leu453Val NC_000002.12:44312609:C:G p.(Leu453Val) NC_000002.12:44312609:C:G p.(Leu453Val) NC_000002.12:44312609:C:G Identity +NM_001159488.2:c.77C>T NP_001152960.1:p.Ser26Phe NC_000001.11:157770641:G:A p.(Ser26Phe) NC_000001.11:157770641:G:A p.(Ser26Phe) NC_000001.11:157770641:G:A Identity +NM_001080409.3:c.1685A>G NP_001073878.2:p.Lys562Arg NC_000019.10:22758223:T:C p.(Lys562Arg) NC_000019.10:22758223:T:C p.(Lys562Arg) NC_000019.10:22758223:T:C Identity +NM_018380.4:c.464A>G NP_060850.2:p.Gln155Arg NC_000016.10:68022738:T:C p.(Gln155Arg) NC_000016.10:68022738:T:C p.(Gln155Arg) NC_000016.10:68022738:T:C Identity +NM_020244.3:c.571G>A NP_064629.2:p.Val191Ile NC_000012.12:101716734:G:A p.(Val191Ile) NC_000012.12:101716734:G:A p.(Val191Ile) NC_000012.12:101716734:G:A Identity +NM_001184740.2:c.180G>C NP_001171669.1:p.Glu60Asp NC_000011.10:70409848:G:C p.(Glu60Asp) NC_000011.10:70409848:G:C p.(Glu60Asp) NC_000011.10:70409848:G:C Identity +NM_001284388.2:c.802A>G NP_001271317.1:p.Thr268Ala NC_000010.11:102159480:A:G p.(Thr268Ala) NC_000010.11:102159480:A:G p.(Thr268Ala) NC_000010.11:102159480:A:G Identity +NM_001039477.3:c.167G>A NP_001034566.1:p.Arg56His NC_000001.11:27876659:G:A p.(Arg56His) NC_000001.11:27876659:G:A p.(Arg56His) NC_000001.11:27876659:G:A Identity +NM_022139.4:c.515C>A NP_071422.1:p.Thr172Asn NC_000020.11:3660647:G:T p.(Thr172Asn) NC_000020.11:3660647:G:T p.(Thr172Asn) NC_000020.11:3660647:G:T Identity +NM_001281293.2:c.1531G>A NP_001268222.1:p.Val511Met NC_000001.11:200408174:C:T p.(Val511Met) NC_000001.11:200408174:C:T p.(Val511Met) NC_000001.11:200408174:C:T Identity +NM_019121.2:c.1813C>T NP_061994.1:p.Pro605Ser NC_000019.10:45145868:C:T p.(Pro605Ser) NC_000019.10:45145868:C:T p.(Pro605Ser) NC_000019.10:45145868:C:T Identity +NM_001410877.1:c.2160T>A NP_001397806.1:p.Asp720Glu NC_000007.14:47368827:A:T p.(Asp720Glu) NC_000007.14:47368827:A:T p.(Asp720Glu) NC_000007.14:47368827:A:T Identity +NM_001289036.3:c.154G>C NP_001275965.2:p.Ala52Pro NC_000018.10:619259:G:C p.(Ala52Pro) NC_000018.10:619259:G:C p.(Ala52Pro) NC_000018.10:619259:G:C Identity +NM_001302769.2:c.1672C>T NP_001289698.1:p.Leu558Phe NC_000002.12:205172261:C:T p.(Leu558Phe) NC_000002.12:205172261:C:T p.(Leu558Phe) NC_000002.12:205172261:C:T Identity +NM_000035.4:c.473G>A NP_000026.2:p.Cys158Tyr NC_000009.12:101427548:C:T p.(Cys158Tyr) NC_000009.12:101427548:C:T p.(Cys158Tyr) NC_000009.12:101427548:C:T Identity +NM_001410719.1:c.35C>T NP_001397648.1:p.Ala12Val NC_000003.12:14651870:C:T p.(Ala12Val) NC_000003.12:14651870:C:T p.(Ala12Val) NC_000003.12:14651870:C:T Identity +NM_001130991.3:c.1414C>T NP_001124463.1:p.Arg472Trp NC_000011.10:119051549:G:A p.(Arg472Trp) NC_000011.10:119051549:G:A p.(Arg472Trp) NC_000011.10:119051549:G:A Identity +NM_001345998.2:c.1253G>T NP_001332927.1:p.Gly418Val NC_000005.10:37701120:G:T p.(Gly418Val) NC_000005.10:37701120:G:T p.(Gly418Val) NC_000005.10:37701120:G:T Identity +NM_014974.3:c.3112A>G NP_055789.1:p.Ile1038Val NC_000010.11:348759:T:C p.(Ile1038Val) NC_000010.11:348759:T:C p.(Ile1038Val) NC_000010.11:348759:T:C Identity +NM_176822.4:c.3160G>C NP_789792.1:p.Ala1054Pro NC_000011.10:7071185:G:C p.(Ala1054Pro) NC_000011.10:7071185:G:C p.(Ala1054Pro) NC_000011.10:7071185:G:C Identity +NM_001161498.2:c.1450C>T NP_001154970.1:p.Arg484Trp NC_000014.9:69528347:C:T p.(Arg484Trp) NC_000014.9:69528347:C:T p.(Arg484Trp) NC_000014.9:69528347:C:T Identity +NM_001161812.1:c.45T>A NP_001155284.1:p.Asp15Glu NC_000013.11:105472641:T:A p.(Asp15Glu) NC_000013.11:105472641:T:A p.(Asp15Glu) NC_000013.11:105472641:T:A Identity +NM_002612.4:c.859C>A NP_002603.1:p.Leu287Ile NC_000007.14:95587737:G:T p.(Leu287Ile) NC_000007.14:95587737:G:T p.(Leu287Ile) NC_000007.14:95587737:G:T Identity +NM_014396.4:c.1985G>A NP_055211.2:p.Arg662Gln NC_000007.14:38743538:C:T p.(Arg662Gln) NC_000007.14:38743538:C:T p.(Arg662Gln) NC_000007.14:38743538:C:T Identity +NM_001017520.2:c.631A>T NP_001017520.1:p.Thr211Ser NC_000010.11:96320740:A:T p.(Thr211Ser) NC_000010.11:96320740:A:T p.(Thr211Ser) NC_000010.11:96320740:A:T Identity +NM_007240.3:c.917A>G NP_009171.1:p.Gln306Arg NC_000001.11:161756840:A:G p.(Gln306Arg) NC_000001.11:161756840:A:G p.(Gln306Arg) NC_000001.11:161756840:A:G Identity +NM_001256566.2:c.313T>C NP_001243495.1:p.Cys105Arg NC_000005.10:76618327:A:G p.(Cys105Arg) NC_000005.10:76618327:A:G p.(Cys105Arg) NC_000005.10:76618327:A:G Identity +NM_001348353.1:c.191T>G NP_001335282.1:p.Leu64Trp NC_000008.11:30635098:A:C p.(Leu64Trp) NC_000008.11:30635098:A:C p.(Leu64Trp) NC_000008.11:30635098:A:C Identity +NM_001301025.3:c.4624A>G NP_001287954.2:p.Ile1542Val NC_000015.10:29710857:T:C p.(Ile1542Val) NC_000015.10:29710857:T:C p.(Ile1542Val) NC_000015.10:29710857:T:C Identity +NM_001098424.1:c.2564A>G NP_001091894.1:p.Glu855Gly NC_000003.12:197051620:T:C p.(Glu855Gly) NC_000003.12:197051620:T:C p.(Glu855Gly) NC_000003.12:197051620:T:C Identity +NM_018899.6:c.1589G>C NP_061722.1:p.Ser530Thr NC_000005.10:140968354:G:C p.(Ser530Thr) NC_000005.10:140968354:G:C p.(Ser530Thr) NC_000005.10:140968354:G:C Identity +NM_152550.4:c.656T>G NP_689763.4:p.Ile219Ser NC_000005.10:146004064:T:G p.(Ile219Ser) NC_000005.10:146004064:T:G p.(Ile219Ser) NC_000005.10:146004064:T:G Identity +NM_001080855.3:c.1471C>T NP_001074324.1:p.Leu491Phe NC_000012.12:120213879:G:A p.(Leu491Phe) NC_000012.12:120213879:G:A p.(Leu491Phe) NC_000012.12:120213879:G:A Identity +NM_001001668.4:c.973G>A NP_001001668.3:p.Ala325Thr NC_000019.10:56577401:G:A p.(Ala325Thr) NC_000019.10:56577401:G:A p.(Ala325Thr) NC_000019.10:56577401:G:A Identity +NM_001007565.2:c.928C>G NP_001007566.1:p.Gln310Glu NC_000003.12:100748255:C:G p.(Gln310Glu) NC_000003.12:100748255:C:G p.(Gln310Glu) NC_000003.12:100748255:C:G Identity +NM_000830.6:c.2252T>C NP_000821.1:p.Leu751Pro NC_000021.9:29561727:A:G p.(Leu751Pro) NC_000021.9:29561727:A:G p.(Leu751Pro) NC_000021.9:29561727:A:G Identity +NM_001144769.5:c.12936C>G NP_001138241.1:p.Asn4312Lys NC_000006.12:56506735:G:C p.(Asn4312Lys) NC_000006.12:56506735:G:C p.(Asn4312Lys) NC_000006.12:56506735:G:C Identity +NM_001042734.4:c.1066G>A NP_001036199.1:p.Asp356Asn NC_000004.12:109491331:G:A p.(Asp356Asn) NC_000004.12:109491331:G:A p.(Asp356Asn) NC_000004.12:109491331:G:A Identity +NM_016233.2:c.1137C>A NP_057317.2:p.Phe379Leu NC_000001.11:17273428:C:A p.(Phe379Leu) NC_000001.11:17273428:C:A p.(Phe379Leu) NC_000001.11:17273428:C:A Identity +NM_001367624.2:c.2302C>G NP_001354553.1:p.Pro768Ala NC_000016.10:88429771:C:G p.(Pro768Ala) NC_000016.10:88429771:C:G p.(Pro768Ala) NC_000016.10:88429771:C:G Identity +NM_001276.4:c.476C>A NP_001267.2:p.Ala159Asp NC_000001.11:203182841:G:T p.(Ala159Asp) NC_000001.11:203182841:G:T p.(Ala159Asp) NC_000001.11:203182841:G:T Identity +NM_001330556.2:c.533C>T NP_001317485.1:p.Ser178Leu NC_000016.10:57474858:G:A p.(Ser178Leu) NC_000016.10:57474858:G:A p.(Ser178Leu) NC_000016.10:57474858:G:A Identity +NM_001005278.2:c.571G>T NP_001005278.1:p.Asp191Tyr NC_000001.11:158777064:C:A p.(Asp191Tyr) NC_000001.11:158777064:C:A p.(Asp191Tyr) NC_000001.11:158777064:C:A Identity +NM_020225.3:c.898G>A NP_064610.1:p.Glu300Lys NC_000004.12:184009735:G:A p.(Glu300Lys) NC_000004.12:184009735:G:A p.(Glu300Lys) NC_000004.12:184009735:G:A Identity +NM_001031680.2:c.902C>T NP_001026850.1:p.Thr301Met NC_000001.11:24902509:G:A p.(Thr301Met) NC_000001.11:24902509:G:A p.(Thr301Met) NC_000001.11:24902509:G:A Identity +NM_138446.2:c.34G>C NP_612455.1:p.Ala12Pro NC_000007.14:23299385:G:C p.(Ala12Pro) NC_000007.14:23299385:G:C p.(Ala12Pro) NC_000007.14:23299385:G:C Identity +NM_171999.4:c.3183C>G NP_741996.2:p.Ile1061Met NC_000018.10:78995173:C:G p.(Ile1061Met) NC_000018.10:78995173:C:G p.(Ile1061Met) NC_000018.10:78995173:C:G Identity +NM_001146032.2:c.1853A>C NP_001139504.1:p.Tyr618Ser NC_000005.10:73078283:A:C p.(Tyr618Ser) NC_000005.10:73078283:A:C p.(Tyr618Ser) NC_000005.10:73078283:A:C Identity +NM_152704.4:c.295G>A NP_689917.2:p.Gly99Arg NC_000013.11:25171324:C:T p.(Gly99Arg) NC_000013.11:25171324:C:T p.(Gly99Arg) NC_000013.11:25171324:C:T Identity +NM_001080463.2:c.10525A>T NP_001073932.1:p.Met3509Leu NC_000011.10:103257649:A:T p.(Met3509Leu) NC_000011.10:103257649:A:T p.(Met3509Leu) NC_000011.10:103257649:A:T Identity +NM_001100176.2:c.1163T>A NP_001093646.1:p.Phe388Tyr NC_000019.10:12768064:A:T p.(Phe388Tyr) NC_000019.10:12768064:A:T p.(Phe388Tyr) NC_000019.10:12768064:A:T Identity +NM_001173467.3:c.199C>G NP_001166938.1:p.Pro67Ala NC_000012.12:53329242:G:C p.(Pro67Ala) NC_000012.12:53329242:G:C p.(Pro67Ala) NC_000012.12:53329242:G:C Identity +NM_001042479.2:c.520G>A NP_001035944.1:p.Ala174Thr NC_000023.11:14009121:C:T p.(Ala174Thr) NC_000023.11:14009121:C:T p.(Ala174Thr) NC_000023.11:14009121:C:T Identity +NM_001253387.2:c.1789C>G NP_001240316.1:p.Leu597Val NC_000003.12:377902:C:G p.(Leu597Val) NC_000003.12:377902:C:G p.(Leu597Val) NC_000003.12:377902:C:G Identity +NM_001318812.2:c.436C>T NP_001305741.1:p.Arg146Trp NC_000011.10:62738301:C:T p.(Arg146Trp) NC_000011.10:62738301:C:T p.(Arg146Trp) NC_000011.10:62738301:C:T Identity +NM_001160305.4:c.883C>G NP_001153777.1:p.His295Asp NC_000016.10:58518140:C:G p.(His295Asp) NC_000016.10:58518140:C:G p.(His295Asp) NC_000016.10:58518140:C:G Identity +NM_014509.5:c.147C>A NP_055324.2:p.Asp49Glu NC_000022.11:42555061:C:A p.(Asp49Glu) NC_000022.11:42555061:C:A p.(Asp49Glu) NC_000022.11:42555061:C:A Identity +NM_001080453.3:c.2784C>G NP_001073922.2:p.Asp928Glu NC_000007.14:1486963:G:C p.(Asp928Glu) NC_000007.14:1486963:G:C p.(Asp928Glu) NC_000007.14:1486963:G:C Identity +NM_015180.6:c.9775A>G NP_055995.4:p.Thr3259Ala NC_000014.9:64055973:A:G p.(Thr3259Ala) NC_000014.9:64055973:A:G p.(Thr3259Ala) NC_000014.9:64055973:A:G Identity +NM_001308189.2:c.1279C>T NP_001295118.1:p.Arg427Cys NC_000005.10:173945013:C:T p.(Arg427Cys) NC_000005.10:173945013:C:T p.(Arg427Cys) NC_000005.10:173945013:C:T Identity +NM_001129889.3:c.401G>A NP_001123361.1:p.Ser134Asn NC_000013.11:94468939:C:T p.(Ser134Asn) NC_000013.11:94468939:C:T p.(Ser134Asn) NC_000013.11:94468939:C:T Identity +NM_006264.3:c.3236A>C NP_006255.1:p.Lys1079Thr NC_000004.12:86758328:A:C p.(Lys1079Thr) NC_000004.12:86758328:A:C p.(Lys1079Thr) NC_000004.12:86758328:A:C Identity +NM_001411089.1:c.3694A>G NP_001398018.1:p.Met1232Val NC_000015.10:43524452:A:G p.(Met1232Val) NC_000015.10:43524452:A:G p.(Met1232Val) NC_000015.10:43524452:A:G Identity +NM_024940.8:c.1429G>A NP_079216.4:p.Gly477Ser NC_000008.11:25317116:G:A p.(Gly477Ser) NC_000008.11:25317116:G:A p.(Gly477Ser) NC_000008.11:25317116:G:A Identity +NM_080284.3:c.1559A>C NP_525023.2:p.Lys520Thr NC_000017.11:69115422:T:G p.(Lys520Thr) NC_000017.11:69115422:T:G p.(Lys520Thr) NC_000017.11:69115422:T:G Identity +NM_001145721.1:c.103C>G NP_001139193.1:p.Leu35Val NC_000019.10:18938795:G:C p.(Leu35Val) NC_000019.10:18938795:G:C p.(Leu35Val) NC_000019.10:18938795:G:C Identity +NM_001039803.3:c.782C>A NP_001034892.1:p.Ala261Glu NC_000009.12:87969254:G:T p.(Ala261Glu) NC_000009.12:87969254:G:T p.(Ala261Glu) NC_000009.12:87969254:G:T Identity +NM_025048.4:c.104T>A NP_079324.2:p.Ile35Asn NC_000006.12:47027726:A:T p.(Ile35Asn) NC_000006.12:47027726:A:T p.(Ile35Asn) NC_000006.12:47027726:A:T Identity +NM_001376129.1:c.1355C>T NP_001363058.1:p.Ser452Leu NC_000002.12:74492958:C:T p.(Ser452Leu) NC_000002.12:74492958:C:T p.(Ser452Leu) NC_000002.12:74492958:C:T Identity +NM_001119.5:c.526G>A NP_001110.2:p.Glu176Lys NC_000004.12:2894027:G:A p.(Glu176Lys) NC_000004.12:2894027:G:A p.(Glu176Lys) NC_000004.12:2894027:G:A Identity +NM_001169122.2:c.463T>C NP_001162593.1:p.Trp155Arg NC_000023.11:148662201:T:C p.(Trp155Arg) NC_000023.11:148662201:T:C p.(Trp155Arg) NC_000023.11:148662201:T:C Identity +NM_080677.3:c.128A>G NP_542408.1:p.Lys43Arg NC_000017.11:58087217:A:G p.(Lys43Arg) NC_000017.11:58087217:A:G p.(Lys43Arg) NC_000017.11:58087217:A:G Identity +NM_001076778.3:c.146G>A NP_001070246.1:p.Arg49Gln NC_000003.12:58569714:C:T p.(Arg49Gln) NC_000003.12:58569714:C:T p.(Arg49Gln) NC_000003.12:58569714:C:T Identity +NM_001649.4:c.2992T>A NP_001640.1:p.Cys998Ser NC_000023.11:9932274:T:A p.(Cys998Ser) NC_000023.11:9932274:T:A p.(Cys998Ser) NC_000023.11:9932274:T:A Identity +NM_001297647.2:c.1616G>A NP_001284576.1:p.Ser539Asn NC_000001.11:26188601:G:A p.(Ser539Asn) NC_000001.11:26188601:G:A p.(Ser539Asn) NC_000001.11:26188601:G:A Identity +NM_022130.4:c.763C>T NP_071413.1:p.Pro255Ser NC_000005.10:32126345:G:A p.(Pro255Ser) NC_000005.10:32126345:G:A p.(Pro255Ser) NC_000005.10:32126345:G:A Identity +NM_001011724.3:c.913T>C NP_001011724.1:p.Tyr305His NC_000013.11:52643404:T:C p.(Tyr305His) NC_000013.11:52643404:T:C p.(Tyr305His) NC_000013.11:52643404:T:C Identity +NM_170606.3:c.13040C>T NP_733751.2:p.Pro4347Leu NC_000007.14:152148886:G:A p.(Pro4347Leu) NC_000007.14:152148886:G:A p.(Pro4347Leu) NC_000007.14:152148886:G:A Identity +NM_001207042.3:c.281G>A NP_001193971.1:p.Arg94His NC_000019.10:49682051:G:A p.(Arg94His) NC_000019.10:49682051:G:A p.(Arg94His) NC_000019.10:49682051:G:A Identity +NM_001303145.2:c.832G>C NP_001290074.1:p.Glu278Gln NC_000005.10:141151496:G:C p.(Glu278Gln) NC_000005.10:141151496:G:C p.(Glu278Gln) NC_000005.10:141151496:G:C Identity +NM_001005332.2:c.129C>G NP_001005332.1:p.Asn43Lys NC_000023.11:51895135:C:G p.(Asn43Lys) NC_000023.11:51895135:C:G p.(Asn43Lys) NC_000023.11:51895135:C:G Identity +NM_001134492.2:c.308A>G NP_001127964.1:p.His103Arg NC_000001.11:87073116:A:G p.(His103Arg) NC_000001.11:87073116:A:G p.(His103Arg) NC_000001.11:87073116:A:G Identity +NM_001130090.1:c.1097T>A NP_001123562.1:p.Met366Lys NC_000017.11:18004459:T:A p.(Met366Lys) NC_000017.11:18004459:T:A p.(Met366Lys) NC_000017.11:18004459:T:A Identity +NM_002470.4:c.4427G>A NP_002461.2:p.Arg1476His NC_000017.11:10634111:C:T p.(Arg1476His) NC_000017.11:10634111:C:T p.(Arg1476His) NC_000017.11:10634111:C:T Identity +NM_001143935.2:c.1720G>T NP_001137407.1:p.Val574Phe NC_000007.14:87392984:G:T p.(Val574Phe) NC_000007.14:87392984:G:T p.(Val574Phe) NC_000007.14:87392984:G:T Identity +NM_153006.3:c.424G>C NP_694551.1:p.Glu142Gln NC_000017.11:44005086:G:C p.(Glu142Gln) NC_000017.11:44005086:G:C p.(Glu142Gln) NC_000017.11:44005086:G:C Identity +NM_198834.3:c.5875A>T NP_942131.1:p.Ile1959Phe NC_000017.11:37129433:T:A p.(Ile1959Phe) NC_000017.11:37129433:T:A p.(Ile1959Phe) NC_000017.11:37129433:T:A Identity +NM_173353.4:c.360T>G NP_775489.2:p.Asn120Lys NC_000012.12:71944397:T:G p.(Asn120Lys) NC_000012.12:71944397:T:G p.(Asn120Lys) NC_000012.12:71944397:T:G Identity +NM_181787.3:c.2153T>A NP_861452.2:p.Val718Glu NC_000008.11:94789890:T:A p.(Val718Glu) NC_000008.11:94789890:T:A p.(Val718Glu) NC_000008.11:94789890:T:A Identity +NM_001306076.1:c.409T>A NP_001293005.1:p.Leu137Ile NC_000001.11:93186449:T:A p.(Leu137Ile) NC_000001.11:93186449:T:A p.(Leu137Ile) NC_000001.11:93186449:T:A Identity +NM_001193451.2:c.2299C>T NP_001180380.1:p.His767Tyr NC_000012.12:29516356:G:A p.(His767Tyr) NC_000012.12:29516356:G:A p.(His767Tyr) NC_000012.12:29516356:G:A Identity +NM_022098.4:c.1328A>G NP_071381.1:p.Gln443Arg NC_000022.11:40924452:A:G p.(Gln443Arg) NC_000022.11:40924452:A:G p.(Gln443Arg) NC_000022.11:40924452:A:G Identity +NM_001001665.4:c.796G>A NP_001001665.3:p.Gly266Ser NC_000002.12:127193790:C:T p.(Gly266Ser) NC_000002.12:127193790:C:T p.(Gly266Ser) NC_000002.12:127193790:C:T Identity +NM_001329099.2:c.403C>A NP_001316028.1:p.Leu135Met NC_000012.12:9009019:C:A p.(Leu135Met) NC_000012.12:9009019:C:A p.(Leu135Met) NC_000012.12:9009019:C:A Identity +NM_001085451.2:c.125C>T NP_001078920.1:p.Thr42Ile NC_000003.12:100429853:C:T p.(Thr42Ile) NC_000003.12:100429853:C:T p.(Thr42Ile) NC_000003.12:100429853:C:T Identity +NM_001031709.3:c.209C>T NP_001026879.2:p.Ala70Val NC_000010.11:88582216:G:A p.(Ala70Val) NC_000010.11:88582216:G:A p.(Ala70Val) NC_000010.11:88582216:G:A Identity +NM_001270888.2:c.77C>G NP_001257817.1:p.Pro26Arg NC_000017.11:81712502:C:G p.(Pro26Arg) NC_000017.11:81712502:C:G p.(Pro26Arg) NC_000017.11:81712502:C:G Identity +NM_001318520.2:c.3554G>C NP_001305449.1:p.Arg1185Thr NC_000018.10:70017537:C:G p.(Arg1185Thr) NC_000018.10:70017537:C:G p.(Arg1185Thr) NC_000018.10:70017537:C:G Identity +NM_001142522.3:c.1109C>T NP_001135994.1:p.Thr370Ile NC_000006.12:152971259:G:A p.(Thr370Ile) NC_000006.12:152971259:G:A p.(Thr370Ile) NC_000006.12:152971259:G:A Identity +NM_001319310.2:c.599G>T NP_001306239.1:p.Gly200Val NC_000012.12:100262364:C:A p.(Gly200Val) NC_000012.12:100262364:C:A p.(Gly200Val) NC_000012.12:100262364:C:A Identity +NM_001077498.3:c.1535A>C NP_001070966.1:p.Gln512Pro NC_000017.11:28758423:T:G p.(Gln512Pro) NC_000017.11:28758423:T:G p.(Gln512Pro) NC_000017.11:28758423:T:G Identity +NM_001282470.3:c.20C>T NP_001269399.1:p.Pro7Leu NC_000011.10:120660337:C:T p.(Pro7Leu) NC_000011.10:120660337:C:T p.(Pro7Leu) NC_000011.10:120660337:C:T Identity +NM_012293.3:c.3446C>T NP_036425.1:p.Thr1149Met NC_000002.12:1648333:G:A p.(Thr1149Met) NC_000002.12:1648333:G:A p.(Thr1149Met) NC_000002.12:1648333:G:A Identity +NM_020950.2:c.1735C>T NP_066001.1:p.Pro579Ser NC_000001.11:180935643:C:T p.(Pro579Ser) NC_000001.11:180935643:C:T p.(Pro579Ser) NC_000001.11:180935643:C:T Identity +NM_032772.6:c.1118A>G NP_116161.2:p.Gln373Arg NC_000010.11:75399571:T:C p.(Gln373Arg) NC_000010.11:75399571:T:C p.(Gln373Arg) NC_000010.11:75399571:T:C Identity +NM_017805.3:c.1138C>A NP_060275.2:p.Arg380Ser NC_000019.10:48735236:G:T p.(Arg380Ser) NC_000019.10:48735236:G:T p.(Arg380Ser) NC_000019.10:48735236:G:T Identity +NM_018910.3:c.2039C>G NP_061733.1:p.Ser680Trp NC_000005.10:140836421:C:G p.(Ser680Trp) NC_000005.10:140836421:C:G p.(Ser680Trp) NC_000005.10:140836421:C:G Identity +NM_001317936.2:c.694G>A NP_001304865.1:p.Gly232Arg NC_000008.11:144807630:G:A p.(Gly232Arg) NC_000008.11:144807630:G:A p.(Gly232Arg) NC_000008.11:144807630:G:A Identity +NM_001320449.2:c.115G>A NP_001307378.1:p.Val39Met NC_000017.11:4446140:G:A p.(Val39Met) NC_000017.11:4446140:G:A p.(Val39Met) NC_000017.11:4446140:G:A Identity +NM_000294.3:c.825T>A NP_000285.1:p.Asp275Glu NC_000016.10:30756612:T:A p.(Asp275Glu) NC_000016.10:30756612:T:A p.(Asp275Glu) NC_000016.10:30756612:T:A Identity +NM_001393581.1:c.468C>G NP_001380510.1:p.His156Gln NC_000003.12:49687365:G:C p.(His156Gln) NC_000003.12:49687365:G:C p.(His156Gln) NC_000003.12:49687365:G:C Identity +NM_001286429.2:c.1513T>G NP_001273358.1:p.Ser505Ala NC_000015.10:71765022:T:G p.(Ser505Ala) NC_000015.10:71765022:T:G p.(Ser505Ala) NC_000015.10:71765022:T:G Identity +NM_015419.4:c.3208G>A NP_056234.2:p.Gly1070Arg NC_000023.11:3322476:C:T p.(Gly1070Arg) NC_000023.11:3322476:C:T p.(Gly1070Arg) NC_000023.11:3322476:C:T Identity +NM_001111020.3:c.1453T>C NP_001104490.1:p.Phe485Leu NC_000019.10:39470196:T:C p.(Phe485Leu) NC_000019.10:39470196:T:C p.(Phe485Leu) NC_000019.10:39470196:T:C Identity +NM_001394189.1:c.364C>A NP_001381118.1:p.Arg122Ser NC_000014.9:20584110:G:T p.(Arg122Ser) NC_000014.9:20584110:G:T p.(Arg122Ser) NC_000014.9:20584110:G:T Identity +NM_175710.2:c.218C>G NP_783641.1:p.Pro73Arg NC_000001.11:207677508:C:G p.(Pro73Arg) NC_000001.11:207677508:C:G p.(Pro73Arg) NC_000001.11:207677508:C:G Identity +NM_001145674.3:c.881A>G NP_001139146.1:p.Asp294Gly NC_000004.12:185624247:T:C p.(Asp294Gly) NC_000004.12:185624247:T:C p.(Asp294Gly) NC_000004.12:185624247:T:C Identity +NM_080817.5:c.397T>C NP_543007.1:p.Cys133Arg NC_000023.11:41727422:T:C p.(Cys133Arg) NC_000023.11:41727422:T:C p.(Cys133Arg) NC_000023.11:41727422:T:C Identity +NM_002332.3:c.3386A>G NP_002323.2:p.Asn1129Ser NC_000012.12:57173818:A:G p.(Asn1129Ser) NC_000012.12:57173818:A:G p.(Asn1129Ser) NC_000012.12:57173818:A:G Identity +NM_032856.5:c.37C>T NP_116245.2:p.Arg13Cys NC_000015.10:84654237:G:A p.(Arg13Cys) NC_000015.10:84654237:G:A p.(Arg13Cys) NC_000015.10:84654237:G:A Identity +NM_181539.5:c.868T>C NP_853517.2:p.Ser290Pro NC_000017.11:40769854:A:G p.(Ser290Pro) NC_000017.11:40769854:A:G p.(Ser290Pro) NC_000017.11:40769854:A:G Identity +NM_181701.4:c.205G>C NP_859052.3:p.Gly69Arg NC_000009.12:136245598:C:G p.(Gly69Arg) NC_000009.12:136245598:C:G p.(Gly69Arg) NC_000009.12:136245598:C:G Identity +NM_001017995.3:c.830A>G NP_001017995.1:p.Lys277Arg NC_000005.10:172350544:T:C p.(Lys277Arg) NC_000005.10:172350544:T:C p.(Lys277Arg) NC_000005.10:172350544:T:C Identity +NM_001300911.2:c.196T>C NP_001287840.1:p.Tyr66His NC_000005.10:137877528:T:C p.(Tyr66His) NC_000005.10:137877528:T:C p.(Tyr66His) NC_000005.10:137877528:T:C Identity +NM_001289156.2:c.868C>G NP_001276085.1:p.Pro290Ala NC_000015.10:74897183:C:G p.(Pro290Ala) NC_000015.10:74897183:C:G p.(Pro290Ala) NC_000015.10:74897183:C:G Identity +NM_001286121.1:c.1036G>A NP_001273050.1:p.Val346Met NC_000006.12:25776888:G:A p.(Val346Met) NC_000006.12:25776888:G:A p.(Val346Met) NC_000006.12:25776888:G:A Identity +NM_181721.3:c.461C>G NP_859072.1:p.Pro154Arg NC_000011.10:118979517:C:G p.(Pro154Arg) NC_000011.10:118979517:C:G p.(Pro154Arg) NC_000011.10:118979517:C:G Identity +NM_173348.2:c.1643C>T NP_775483.1:p.Pro548Leu NC_000010.11:73239351:C:T p.(Pro548Leu) NC_000010.11:73239351:C:T p.(Pro548Leu) NC_000010.11:73239351:C:T Identity +NM_001164317.2:c.2088G>A NP_001157789.1:p.Met696Ile NC_000003.12:58109210:G:A p.(Met696Ile) NC_000003.12:58109210:G:A p.(Met696Ile) NC_000003.12:58109210:G:A Identity +NM_001303097.2:c.307C>T NP_001290026.1:p.His103Tyr NC_000012.12:122848801:C:T p.(His103Tyr) NC_000012.12:122848801:C:T p.(His103Tyr) NC_000012.12:122848801:C:T Identity +NM_001145053.2:c.80C>G NP_001138525.2:p.Thr27Ser NC_000017.11:29968847:C:G p.(Thr27Ser) NC_000017.11:29968847:C:G p.(Thr27Ser) NC_000017.11:29968847:C:G Identity +NM_021965.4:c.1079C>G NP_068800.2:p.Thr360Ser NC_000009.12:68465127:C:G p.(Thr360Ser) NC_000009.12:68465127:C:G p.(Thr360Ser) NC_000009.12:68465127:C:G Identity +NM_001135217.2:c.347T>C NP_001128689.1:p.Leu116Pro NC_000012.12:6906518:T:C p.(Leu116Pro) NC_000012.12:6906518:T:C p.(Leu116Pro) NC_000012.12:6906518:T:C Identity +NM_001130698.2:c.887G>A NP_001124170.1:p.Ser296Asn NC_000004.12:121932370:C:T p.(Ser296Asn) NC_000004.12:121932370:C:T p.(Ser296Asn) NC_000004.12:121932370:C:T Identity +NM_015082.2:c.1772C>T NP_055897.1:p.Ala591Val NC_000005.10:133201986:G:A p.(Ala591Val) NC_000005.10:133201986:G:A p.(Ala591Val) NC_000005.10:133201986:G:A Identity +NM_005499.3:c.31C>A NP_005490.1:p.Leu11Met NC_000019.10:34428462:C:A p.(Leu11Met) NC_000019.10:34428462:C:A p.(Leu11Met) NC_000019.10:34428462:C:A Identity +NM_001122633.3:c.4082G>A NP_001116105.2:p.Gly1361Asp NC_000002.12:210668264:G:A p.(Gly1361Asp) NC_000002.12:210668264:G:A p.(Gly1361Asp) NC_000002.12:210668264:G:A Identity +NM_001166347.2:c.131C>T NP_001159819.1:p.Ser44Phe NC_000017.11:80221690:C:T p.(Ser44Phe) NC_000017.11:80221690:C:T p.(Ser44Phe) NC_000017.11:80221690:C:T Identity +NM_001301025.3:c.3619C>G NP_001287954.2:p.Leu1207Val NC_000015.10:29718801:G:C p.(Leu1207Val) NC_000015.10:29718801:G:C p.(Leu1207Val) NC_000015.10:29718801:G:C Identity +NM_001378125.1:c.1562G>A NP_001365054.1:p.Ser521Asn NC_000002.12:32414936:G:A p.(Ser521Asn) NC_000002.12:32414936:G:A p.(Ser521Asn) NC_000002.12:32414936:G:A Identity +NM_000632.4:c.1334A>G NP_000623.2:p.Asn445Ser NC_000016.10:31278086:A:G p.(Asn445Ser) NC_000016.10:31278086:A:G p.(Asn445Ser) NC_000016.10:31278086:A:G Identity +NM_001024938.4:c.211G>A NP_001020109.1:p.Val71Met NC_000022.11:23868570:G:A p.(Val71Met) NC_000022.11:23868570:G:A p.(Val71Met) NC_000022.11:23868570:G:A Identity +NM_001166221.2:c.877G>A NP_001159693.1:p.Glu293Lys NC_000023.11:129921271:G:A p.(Glu293Lys) NC_000023.11:129921271:G:A p.(Glu293Lys) NC_000023.11:129921271:G:A Identity +NM_018416.3:c.788T>G NP_060886.1:p.Leu263Arg NC_000012.12:8044928:T:G p.(Leu263Arg) NC_000012.12:8044928:T:G p.(Leu263Arg) NC_000012.12:8044928:T:G Identity +NM_001004063.3:c.877G>A NP_001004063.2:p.Asp293Asn NC_000014.9:19936542:G:A p.(Asp293Asn) NC_000014.9:19936542:G:A p.(Asp293Asn) NC_000014.9:19936542:G:A Identity +NM_001414244.1:c.531A>G NP_001401173.1:p.Ile177Met NC_000012.12:12203318:T:C p.(Ile177Met) NC_000012.12:12203318:T:C p.(Ile177Met) NC_000012.12:12203318:T:C Identity +NM_001354830.2:c.1592A>G NP_001341759.1:p.His531Arg NC_000011.10:7000123:T:C p.(His531Arg) NC_000011.10:7000123:T:C p.(His531Arg) NC_000011.10:7000123:T:C Identity +NM_001004346.4:c.457G>A NP_001004346.2:p.Val153Ile NC_000004.12:74201288:G:A p.(Val153Ile) NC_000004.12:74201288:G:A p.(Val153Ile) NC_000004.12:74201288:G:A Identity +NM_001238.4:c.232C>A NP_001229.1:p.Pro78Thr NC_000019.10:29817187:C:A p.(Pro78Thr) NC_000019.10:29817187:C:A p.(Pro78Thr) NC_000019.10:29817187:C:A Identity +NM_001287437.2:c.1391A>G NP_001274366.1:p.Asn464Ser NC_000004.12:128862148:A:G p.(Asn464Ser) NC_000004.12:128862148:A:G p.(Asn464Ser) NC_000004.12:128862148:A:G Identity +NM_001242800.2:c.1781A>C NP_001229729.1:p.Tyr594Ser NC_000019.10:36818562:T:G p.(Tyr594Ser) NC_000019.10:36818562:T:G p.(Tyr594Ser) NC_000019.10:36818562:T:G Identity +NM_004781.4:c.20C>T NP_004772.1:p.Ala7Val NC_000001.11:7773458:C:T p.(Ala7Val) NC_000001.11:7773458:C:T p.(Ala7Val) NC_000001.11:7773458:C:T Identity +NM_001355039.2:c.1036A>C NP_001341968.1:p.Ile346Leu NC_000005.10:141625707:T:G p.(Ile346Leu) NC_000005.10:141625707:T:G p.(Ile346Leu) NC_000005.10:141625707:T:G Identity +NM_001290187.2:c.928C>G NP_001277116.1:p.Leu310Val NC_000007.14:149723786:C:G p.(Leu310Val) NC_000007.14:149723786:C:G p.(Leu310Val) NC_000007.14:149723786:C:G Identity +NM_001286074.2:c.2338A>G NP_001273003.2:p.Ile780Val NC_000023.11:71387371:A:G p.(Ile780Val) NC_000023.11:71387371:A:G p.(Ile780Val) NC_000023.11:71387371:A:G Identity +NM_080283.4:c.2813T>C NP_525022.2:p.Ile938Thr NC_000017.11:69017743:A:G p.(Ile938Thr) NC_000017.11:69017743:A:G p.(Ile938Thr) NC_000017.11:69017743:A:G Identity +NM_170606.3:c.14018G>A NP_733751.2:p.Arg4673His NC_000007.14:152146611:C:T p.(Arg4673His) NC_000007.14:152146611:C:T p.(Arg4673His) NC_000007.14:152146611:C:T Identity +NM_002904.6:c.377G>T NP_002895.3:p.Arg126Leu NC_000006.12:31955085:C:A p.(Arg126Leu) NC_000006.12:31955085:C:A p.(Arg126Leu) NC_000006.12:31955085:C:A Identity +NM_052885.4:c.419C>T NP_443117.3:p.Ala140Val NC_000012.12:40105389:G:A p.(Ala140Val) NC_000012.12:40105389:G:A p.(Ala140Val) NC_000012.12:40105389:G:A Identity +NM_001143885.2:c.2508A>T NP_001137357.1:p.Gln836His NC_000012.12:79795712:T:A p.(Gln836His) NC_000012.12:79795712:T:A p.(Gln836His) NC_000012.12:79795712:T:A Identity +NM_001146197.3:c.5057C>T NP_001139669.1:p.Thr1686Ile NC_000013.11:102745639:G:A p.(Thr1686Ile) NC_000013.11:102745639:G:A p.(Thr1686Ile) NC_000013.11:102745639:G:A Identity +NM_001079878.2:c.434C>A NP_001073347.1:p.Pro145Gln NC_000002.12:98389695:C:A p.(Pro145Gln) NC_000002.12:98389695:C:A p.(Pro145Gln) NC_000002.12:98389695:C:A Identity +NM_005373.3:c.1058A>G NP_005364.1:p.His353Arg NC_000001.11:43346521:A:G p.(His353Arg) NC_000001.11:43346521:A:G p.(His353Arg) NC_000001.11:43346521:A:G Identity +NM_006297.3:c.422C>G NP_006288.2:p.Pro141Arg NC_000019.10:43553675:G:C p.(Pro141Arg) NC_000019.10:43553675:G:C p.(Pro141Arg) NC_000019.10:43553675:G:C Identity +NM_001013706.3:c.1309G>T NP_001013728.2:p.Val437Phe NC_000019.10:4523610:C:A p.(Val437Phe) NC_000019.10:4523610:C:A p.(Val437Phe) NC_000019.10:4523610:C:A Identity +NM_005245.4:c.6280A>G NP_005236.2:p.Thr2094Ala NC_000004.12:186620305:T:C p.(Thr2094Ala) NC_000004.12:186620305:T:C p.(Thr2094Ala) NC_000004.12:186620305:T:C Identity +NM_001291088.2:c.684G>C NP_001278017.1:p.Gln228His NC_000019.10:37895018:C:G p.(Gln228His) NC_000019.10:37895018:C:G p.(Gln228His) NC_000019.10:37895018:C:G Identity +NM_001297434.2:c.607G>A NP_001284363.1:p.Glu203Lys NC_000001.11:37886919:C:T p.(Glu203Lys) NC_000001.11:37886919:C:T p.(Glu203Lys) NC_000001.11:37886919:C:T Identity +NM_152219.4:c.97C>T NP_689343.3:p.Arg33Cys NC_000017.11:40363718:G:A p.(Arg33Cys) NC_000017.11:40363718:G:A p.(Arg33Cys) NC_000017.11:40363718:G:A Identity +NM_002754.5:c.217C>G NP_002745.1:p.Leu73Val NC_000006.12:36131367:C:G p.(Leu73Val) NC_000006.12:36131367:C:G p.(Leu73Val) NC_000006.12:36131367:C:G Identity +NM_001802.2:c.1244C>T NP_001793.1:p.Ser415Phe NC_000016.10:22347085:G:A p.(Ser415Phe) NC_000016.10:22347085:G:A p.(Ser415Phe) NC_000016.10:22347085:G:A Identity +NM_014015.4:c.33C>A NP_054734.2:p.Asp11Glu NC_000016.10:10941972:G:T p.(Asp11Glu) NC_000016.10:10941972:G:T p.(Asp11Glu) NC_000016.10:10941972:G:T Identity +NM_001371271.1:c.4432G>A NP_001358200.1:p.Ala1478Thr NC_000002.12:120990345:G:A p.(Ala1478Thr) NC_000002.12:120990345:G:A p.(Ala1478Thr) NC_000002.12:120990345:G:A Identity +NM_001350953.2:c.205G>A NP_001337882.1:p.Ala69Thr NC_000007.14:156826718:C:T p.(Ala69Thr) NC_000007.14:156826718:C:T p.(Ala69Thr) NC_000007.14:156826718:C:T Identity +NM_001039877.2:c.1457T>A NP_001034966.1:p.Leu486Gln NC_000019.10:46725367:A:T p.(Leu486Gln) NC_000019.10:46725367:A:T p.(Leu486Gln) NC_000019.10:46725367:A:T Identity +NM_001330004.2:c.178G>A NP_001316933.1:p.Gly60Ser NC_000002.12:227889964:G:A p.(Gly60Ser) NC_000002.12:227889964:G:A p.(Gly60Ser) NC_000002.12:227889964:G:A Identity +NM_000445.5:c.1915C>A NP_000436.2:p.Leu639Ile NC_000008.11:143932542:G:T p.(Leu639Ile) NC_000008.11:143932542:G:T p.(Leu639Ile) NC_000008.11:143932542:G:T Identity +NM_006116.3:c.29A>G NP_006107.1:p.Gln10Arg NC_000022.11:39399830:A:G p.(Gln10Arg) NC_000022.11:39399830:A:G p.(Gln10Arg) NC_000022.11:39399830:A:G Identity +NM_001277742.2:c.373T>C NP_001264671.1:p.Phe125Leu NC_000002.12:72135250:A:G p.(Phe125Leu) NC_000002.12:72135250:A:G p.(Phe125Leu) NC_000002.12:72135250:A:G Identity +NM_017570.5:c.2762C>T NP_060040.1:p.Ser921Leu NC_000008.11:144053317:G:A p.(Ser921Leu) NC_000008.11:144053317:G:A p.(Ser921Leu) NC_000008.11:144053317:G:A Identity +NM_003458.4:c.1888C>G NP_003449.2:p.Pro630Ala NC_000003.12:49650980:C:G p.(Pro630Ala) NC_000003.12:49650980:C:G p.(Pro630Ala) NC_000003.12:49650980:C:G Identity +NM_001319.7:c.709G>T NP_001310.3:p.Ala237Ser NC_000019.10:1979188:G:T p.(Ala237Ser) NC_000019.10:1979188:G:T p.(Ala237Ser) NC_000019.10:1979188:G:T Identity +NM_002725.4:c.631G>A NP_002716.1:p.Val211Ile NC_000001.11:203483814:G:A p.(Val211Ile) NC_000001.11:203483814:G:A p.(Val211Ile) NC_000001.11:203483814:G:A Identity +NM_024746.4:c.1799C>T NP_079022.2:p.Pro600Leu NC_000001.11:222526974:G:A p.(Pro600Leu) NC_000001.11:222526974:G:A p.(Pro600Leu) NC_000001.11:222526974:G:A Identity +NM_001136193.2:c.2034C>A NP_001129665.1:p.Asp678Glu NC_000002.12:206791702:C:A p.(Asp678Glu) NC_000002.12:206791702:C:A p.(Asp678Glu) NC_000002.12:206791702:C:A Identity +NM_001372065.1:c.909G>A NP_001358994.1:p.Met303Ile NC_000011.10:134206705:C:T p.(Met303Ile) NC_000011.10:134206705:C:T p.(Met303Ile) NC_000011.10:134206705:C:T Identity +NM_001144769.5:c.10159A>G NP_001138241.1:p.Ile3387Val NC_000006.12:56552275:T:C p.(Ile3387Val) NC_000006.12:56552275:T:C p.(Ile3387Val) NC_000006.12:56552275:T:C Identity +NM_001105533.1:c.1159G>C NP_001099003.1:p.Asp387His NC_000007.14:121127113:G:C p.(Asp387His) NC_000007.14:121127113:G:C p.(Asp387His) NC_000007.14:121127113:G:C Identity +NM_144683.4:c.64C>G NP_653284.2:p.Leu22Val NC_000017.11:28902880:G:C p.(Leu22Val) NC_000017.11:28902880:G:C p.(Leu22Val) NC_000017.11:28902880:G:C Identity +NM_007332.3:c.1879A>G NP_015628.2:p.Ile627Val NC_000008.11:72050803:T:C p.(Ile627Val) NC_000008.11:72050803:T:C p.(Ile627Val) NC_000008.11:72050803:T:C Identity +NM_001276.4:c.782T>C NP_001267.2:p.Phe261Ser NC_000001.11:203180581:A:G p.(Phe261Ser) NC_000001.11:203180581:A:G p.(Phe261Ser) NC_000001.11:203180581:A:G Identity +NM_001292041.2:c.377T>G NP_001278970.2:p.Val126Gly NC_000003.12:121644839:A:C p.(Val126Gly) NC_000003.12:121644839:A:C p.(Val126Gly) NC_000003.12:121644839:A:C Identity +NM_001009555.4:c.367G>C NP_001009555.3:p.Gly123Arg NC_000004.12:151174996:C:G p.(Gly123Arg) NC_000004.12:151174996:C:G p.(Gly123Arg) NC_000004.12:151174996:C:G Identity +NM_006988.5:c.35G>A NP_008919.3:p.Arg12His NC_000021.9:26844919:C:T p.(Arg12His) NC_000021.9:26844919:C:T p.(Arg12His) NC_000021.9:26844919:C:T Identity +NM_001195248.2:c.362G>A NP_001182177.2:p.Ser121Asn NC_000009.12:32987664:C:T p.(Ser121Asn) NC_000009.12:32987664:C:T p.(Ser121Asn) NC_000009.12:32987664:C:T Identity +NM_032726.4:c.1645C>T NP_116115.1:p.Arg549Cys NC_000002.12:218634142:C:T p.(Arg549Cys) NC_000002.12:218634142:C:T p.(Arg549Cys) NC_000002.12:218634142:C:T Identity +NM_177531.6:c.12561G>C NP_803875.2:p.Glu4187Asp NC_000008.11:109526859:G:C p.(Glu4187Asp) NC_000008.11:109526859:G:C p.(Glu4187Asp) NC_000008.11:109526859:G:C Identity +NM_001171.6:c.284A>G NP_001162.5:p.Gln95Arg NC_000016.10:16219882:T:C p.(Gln95Arg) NC_000016.10:16219882:T:C p.(Gln95Arg) NC_000016.10:16219882:T:C Identity +NM_024096.2:c.286C>T NP_077001.1:p.Leu96Phe NC_000016.10:30424459:G:A p.(Leu96Phe) NC_000016.10:30424459:G:A p.(Leu96Phe) NC_000016.10:30424459:G:A Identity +NM_020861.3:c.520G>A NP_065912.1:p.Ala174Thr NC_000006.12:151366545:C:T p.(Ala174Thr) NC_000006.12:151366545:C:T p.(Ala174Thr) NC_000006.12:151366545:C:T Identity +NM_001281476.3:c.2365A>G NP_001268405.1:p.Met789Val NC_000002.12:169529874:T:C p.(Met789Val) NC_000002.12:169529874:T:C p.(Met789Val) NC_000002.12:169529874:T:C Identity +NM_001158.5:c.464G>A NP_001149.2:p.Arg155His NC_000017.11:42845089:G:A p.(Arg155His) NC_000017.11:42845089:G:A p.(Arg155His) NC_000017.11:42845089:G:A Identity +NM_170743.4:c.200G>A NP_734464.1:p.Arg67Gln NC_000001.11:24169583:C:T p.(Arg67Gln) NC_000001.11:24169583:C:T p.(Arg67Gln) NC_000001.11:24169583:C:T Identity +NM_017533.2:c.2314G>A NP_060003.2:p.Gly772Ser NC_000017.11:10455061:C:T p.(Gly772Ser) NC_000017.11:10455061:C:T p.(Gly772Ser) NC_000017.11:10455061:C:T Identity +NM_003057.3:c.982G>A NP_003048.1:p.Glu328Lys NC_000006.12:160136570:G:A p.(Glu328Lys) NC_000006.12:160136570:G:A p.(Glu328Lys) NC_000006.12:160136570:G:A Identity +NM_001384609.1:c.2642C>T NP_001371538.1:p.Pro881Leu NC_000013.11:87678029:C:T p.(Pro881Leu) NC_000013.11:87678029:C:T p.(Pro881Leu) NC_000013.11:87678029:C:T Identity +NM_001040653.4:c.1565C>T NP_001035743.1:p.Ala522Val NC_000003.12:126462096:G:A p.(Ala522Val) NC_000003.12:126462096:G:A p.(Ala522Val) NC_000003.12:126462096:G:A Identity +NM_020961.4:c.80G>A NP_066012.1:p.Ser27Asn NC_000004.12:118687935:G:A p.(Ser27Asn) NC_000004.12:118687935:G:A p.(Ser27Asn) NC_000004.12:118687935:G:A Identity +NM_001317034.1:c.43C>G NP_001303963.1:p.Arg15Gly NC_000020.11:50958480:G:C p.(Arg15Gly) NC_000020.11:50958480:G:C p.(Arg15Gly) NC_000020.11:50958480:G:C Identity +NM_001199378.2:c.3073C>T NP_001186307.1:p.Arg1025Trp NC_000010.11:102369309:C:T p.(Arg1025Trp) NC_000010.11:102369309:C:T p.(Arg1025Trp) NC_000010.11:102369309:C:T Identity +NM_001167962.2:c.2129C>T NP_001161434.1:p.Pro710Leu NC_000007.14:103374408:G:A p.(Pro710Leu) NC_000007.14:103374408:G:A p.(Pro710Leu) NC_000007.14:103374408:G:A Identity +NM_005680.3:c.113C>T NP_005671.3:p.Thr38Ile NC_000002.12:9845313:C:T p.(Thr38Ile) NC_000002.12:9845313:C:T p.(Thr38Ile) NC_000002.12:9845313:C:T Identity +NM_001202550.2:c.271G>A NP_001189479.1:p.Ala91Thr NC_000006.12:169672314:C:T p.(Ala91Thr) NC_000006.12:169672314:C:T p.(Ala91Thr) NC_000006.12:169672314:C:T Identity +NM_001136536.5:c.82T>C NP_001130008.2:p.Tyr28His NC_000004.12:36290436:T:C p.(Tyr28His) NC_000004.12:36290436:T:C p.(Tyr28His) NC_000004.12:36290436:T:C Identity +NM_001289160.2:c.181G>A NP_001276089.1:p.Gly61Arg NC_000006.12:31505822:G:A p.(Gly61Arg) NC_000006.12:31505822:G:A p.(Gly61Arg) NC_000006.12:31505822:G:A Identity +NM_016610.4:c.2101T>A NP_057694.2:p.Leu701Ile NC_000023.11:12921086:T:A p.(Leu701Ile) NC_000023.11:12921086:T:A p.(Leu701Ile) NC_000023.11:12921086:T:A Identity +NM_015002.3:c.22A>T NP_055817.1:p.Ser8Cys NC_000012.12:117190434:T:A p.(Ser8Cys) NC_000012.12:117190434:T:A p.(Ser8Cys) NC_000012.12:117190434:T:A Identity +NM_001160325.2:c.467C>T NP_001153797.1:p.Ser156Phe NC_000001.11:158563137:G:A p.(Ser156Phe) NC_000001.11:158563137:G:A p.(Ser156Phe) NC_000001.11:158563137:G:A Identity +NM_001329976.2:c.2249A>G NP_001316905.1:p.Gln750Arg NC_000008.11:12723135:T:C p.(Gln750Arg) NC_000008.11:12723135:T:C p.(Gln750Arg) NC_000008.11:12723135:T:C Identity +NM_001004753.2:c.481G>A NP_001004753.2:p.Val161Ile NC_000011.10:4821901:G:A p.(Val161Ile) NC_000011.10:4821901:G:A p.(Val161Ile) NC_000011.10:4821901:G:A Identity +NM_001321859.2:c.1267G>T NP_001308788.1:p.Ala423Ser NC_000002.12:55026213:C:A p.(Ala423Ser) NC_000002.12:55026213:C:A p.(Ala423Ser) NC_000002.12:55026213:C:A Identity +NM_001143947.2:c.991G>C NP_001137419.1:p.Gly331Arg NC_000006.12:167315194:G:C p.(Gly331Arg) NC_000006.12:167315194:G:C p.(Gly331Arg) NC_000006.12:167315194:G:C Identity +NM_001370401.1:c.19G>C NP_001357330.1:p.Ala7Pro NC_000016.10:426024:G:C p.(Ala7Pro) NC_000016.10:426024:G:C p.(Ala7Pro) NC_000016.10:426024:G:C Identity +NM_015557.3:c.644C>T NP_056372.1:p.Ala215Val NC_000001.11:6154760:G:A p.(Ala215Val) NC_000001.11:6154760:G:A p.(Ala215Val) NC_000001.11:6154760:G:A Identity +NM_001301726.2:c.422A>C NP_001288655.1:p.Glu141Ala NC_000020.11:62861248:T:G p.(Glu141Ala) NC_000020.11:62861248:T:G p.(Glu141Ala) NC_000020.11:62861248:T:G Identity +NM_032301.3:c.818C>A NP_115677.2:p.Ser273Tyr NC_000019.10:12691230:G:T p.(Ser273Tyr) NC_000019.10:12691230:G:T p.(Ser273Tyr) NC_000019.10:12691230:G:T Identity +NM_152744.4:c.1411A>T NP_689957.3:p.Thr471Ser NC_000007.14:3962832:A:T p.(Thr471Ser) NC_000007.14:3962832:A:T p.(Thr471Ser) NC_000007.14:3962832:A:T Identity +NM_001031711.3:c.799G>A NP_001026881.1:p.Ala267Thr NC_000005.10:172950741:G:A p.(Ala267Thr) NC_000005.10:172950741:G:A p.(Ala267Thr) NC_000005.10:172950741:G:A Identity +NM_001004684.1:c.970A>G NP_001004684.1:p.Lys324Glu NC_000011.10:6921970:A:G p.(Lys324Glu) NC_000011.10:6921970:A:G p.(Lys324Glu) NC_000011.10:6921970:A:G Identity +NM_001039948.4:c.1413G>C NP_001035037.1:p.Trp471Cys NC_000022.11:24874535:G:C p.(Trp471Cys) NC_000022.11:24874535:G:C p.(Trp471Cys) NC_000022.11:24874535:G:C Identity +NM_153209.4:c.1685T>C NP_694941.2:p.Val562Ala NC_000017.11:74351963:T:C p.(Val562Ala) NC_000017.11:74351963:T:C p.(Val562Ala) NC_000017.11:74351963:T:C Identity +NM_001351446.2:c.995C>T NP_001338375.1:p.Pro332Leu NC_000002.12:102225900:C:T p.(Pro332Leu) NC_000002.12:102225900:C:T p.(Pro332Leu) NC_000002.12:102225900:C:T Identity +NM_001160102.2:c.881T>C NP_001153574.1:p.Ile294Thr NC_000017.11:58254834:T:C p.(Ile294Thr) NC_000017.11:58254834:T:C p.(Ile294Thr) NC_000017.11:58254834:T:C Identity +NM_001014985.3:c.73C>G NP_001014985.3:p.Leu25Val NC_000017.11:4789083:C:G p.(Leu25Val) NC_000017.11:4789083:C:G p.(Leu25Val) NC_000017.11:4789083:C:G Identity +NM_001045477.4:c.1372G>C NP_001038942.1:p.Asp458His NC_000009.12:96937932:G:C p.(Asp458His) NC_000009.12:96937932:G:C p.(Asp458His) NC_000009.12:96937932:G:C Identity +NM_021076.4:c.1444G>A NP_066554.2:p.Glu482Lys NC_000022.11:29489083:G:A p.(Glu482Lys) NC_000022.11:29489083:G:A p.(Glu482Lys) NC_000022.11:29489083:G:A Identity +NM_001001968.1:c.683T>C NP_001001968.1:p.Val228Ala NC_000014.9:20641008:A:G p.(Val228Ala) NC_000014.9:20641008:A:G p.(Val228Ala) NC_000014.9:20641008:A:G Identity +NM_001278549.2:c.811G>C NP_001265478.1:p.Glu271Gln NC_000002.12:172566914:G:C p.(Glu271Gln) NC_000002.12:172566914:G:C p.(Glu271Gln) NC_000002.12:172566914:G:C Identity +NM_001376195.1:c.1727G>C NP_001363124.1:p.Gly576Ala NC_000006.12:30603511:C:G p.(Gly576Ala) NC_000006.12:30603511:C:G p.(Gly576Ala) NC_000006.12:30603511:C:G Identity +NM_001411061.1:c.1636C>T NP_001397990.1:p.Arg546Cys NC_000014.9:105466436:C:T p.(Arg546Cys) NC_000014.9:105466436:C:T p.(Arg546Cys) NC_000014.9:105466436:C:T Identity +NM_001302769.2:c.2980G>C NP_001289698.1:p.Asp994His NC_000002.12:205440607:G:C p.(Asp994His) NC_000002.12:205440607:G:C p.(Asp994His) NC_000002.12:205440607:G:C Identity +NM_001291876.2:c.7133A>C NP_001278805.2:p.Lys2378Thr NC_000010.11:122211692:A:C p.(Lys2378Thr) NC_000010.11:122211692:A:C p.(Lys2378Thr) NC_000010.11:122211692:A:C Identity +NM_004420.3:c.224G>A NP_004411.2:p.Arg75His NC_000011.10:1565602:C:T p.(Arg75His) NC_000011.10:1565602:C:T p.(Arg75His) NC_000011.10:1565602:C:T Identity +NM_000285.4:c.517A>G NP_000276.2:p.Asn173Asp NC_000019.10:33478076:T:C p.(Asn173Asp) NC_000019.10:33478076:T:C p.(Asn173Asp) NC_000019.10:33478076:T:C Identity +NM_001076786.3:c.1321C>A NP_001070254.2:p.Pro441Thr NC_000011.10:32932578:C:A p.(Pro441Thr) NC_000011.10:32932578:C:A p.(Pro441Thr) NC_000011.10:32932578:C:A Identity +NM_020121.4:c.181A>G NP_064506.3:p.Asn61Asp NC_000013.11:96031948:T:C p.(Asn61Asp) NC_000013.11:96031948:T:C p.(Asn61Asp) NC_000013.11:96031948:T:C Identity +NM_002274.4:c.715A>G NP_002265.3:p.Met239Val NC_000017.11:41503306:T:C p.(Met239Val) NC_000017.11:41503306:T:C p.(Met239Val) NC_000017.11:41503306:T:C Identity +NM_152280.5:c.547G>A NP_689493.3:p.Gly183Arg NC_000001.11:155868476:G:A p.(Gly183Arg) NC_000001.11:155868476:G:A p.(Gly183Arg) NC_000001.11:155868476:G:A Identity +NM_182958.4:c.1366A>T NP_892003.2:p.Thr456Ser NC_000016.10:31130953:A:T p.(Thr456Ser) NC_000016.10:31130953:A:T p.(Thr456Ser) NC_000016.10:31130953:A:T Identity +NM_001173513.3:c.1729A>G NP_001166984.1:p.Ile577Val NC_000003.12:126608524:T:C p.(Ile577Val) NC_000003.12:126608524:T:C p.? NC_000003.12:126608524:T:C Identity +NM_005843.6:c.1461G>A NP_005834.4:p.Met487Ile NC_000002.12:152120690:C:T p.(Met487Ile) NC_000002.12:152120690:C:T p.(Met487Ile) NC_000002.12:152120690:C:T Identity +NM_001317939.2:c.1060A>G NP_001304868.1:p.Lys354Glu NC_000009.12:16437007:T:C p.(Lys354Glu) NC_000009.12:16437007:T:C p.(Lys354Glu) NC_000009.12:16437007:T:C Identity +NM_032178.3:c.46A>G NP_115554.2:p.Ser16Gly NC_000016.10:68310880:T:C p.(Ser16Gly) NC_000016.10:68310880:T:C p.(Ser16Gly) NC_000016.10:68310880:T:C Identity +NM_138481.2:c.1136C>T NP_612490.1:p.Pro379Leu NC_000022.11:41237935:G:A p.(Pro379Leu) NC_000022.11:41237935:G:A p.(Pro379Leu) NC_000022.11:41237935:G:A Identity +NM_002299.4:c.1142C>T NP_002290.2:p.Thr381Ile NC_000002.12:135817905:G:A p.(Thr381Ile) NC_000002.12:135817905:G:A p.(Thr381Ile) NC_000002.12:135817905:G:A Identity +NM_015483.3:c.1234G>A NP_056298.2:p.Val412Ile NC_000007.14:32869982:C:T p.(Val412Ile) NC_000007.14:32869982:C:T p.(Val412Ile) NC_000007.14:32869982:C:T Identity +NM_001304358.2:c.187C>G NP_001291287.1:p.Leu63Val NC_000004.12:188002993:C:G p.(Leu63Val) NC_000004.12:188002993:C:G p.(Leu63Val) NC_000004.12:188002993:C:G Identity +NM_198150.3:c.713C>A NP_937793.1:p.Ala238Asp NC_000005.10:95586574:C:A p.(Ala238Asp) NC_000005.10:95586574:C:A p.(Ala238Asp) NC_000005.10:95586574:C:A Identity +NM_001170690.3:c.1487G>C NP_001164161.1:p.Arg496Pro NC_000011.10:9047405:C:G p.(Arg496Pro) NC_000011.10:9047405:C:G p.(Arg496Pro) NC_000011.10:9047405:C:G Identity +NM_173615.5:c.1558G>C NP_775886.3:p.Ala520Pro NC_000016.10:22126202:G:C p.(Ala520Pro) NC_000016.10:22126202:G:C p.(Ala520Pro) NC_000016.10:22126202:G:C Identity +NM_001252127.2:c.1506A>T NP_001239056.1:p.Glu502Asp NC_000015.10:50958673:A:T p.(Glu502Asp) NC_000015.10:50958673:A:T p.(Glu502Asp) NC_000015.10:50958673:A:T Identity +NM_001242559.2:c.1280A>G NP_001229488.1:p.Gln427Arg NC_000002.12:101856022:A:G p.(Gln427Arg) NC_000002.12:101856022:A:G p.(Gln427Arg) NC_000002.12:101856022:A:G Identity +NM_001130519.3:c.974G>A NP_001123991.1:p.Gly325Asp NC_000011.10:3359964:C:T p.(Gly325Asp) NC_000011.10:3359964:C:T p.(Gly325Asp) NC_000011.10:3359964:C:T Identity +NM_018359.5:c.311A>G NP_060829.2:p.Lys104Arg NC_000004.12:185418462:T:C p.(Lys104Arg) NC_000004.12:185418462:T:C p.(Lys104Arg) NC_000004.12:185418462:T:C Identity +NM_006536.7:c.1846C>T NP_006527.1:p.Leu616Phe NC_000001.11:86447639:C:T p.(Leu616Phe) NC_000001.11:86447639:C:T p.(Leu616Phe) NC_000001.11:86447639:C:T Identity +NM_001145961.2:c.1627C>T NP_001139433.1:p.Arg543Trp NC_000016.10:67950320:G:A p.(Arg543Trp) NC_000016.10:67950320:G:A p.(Arg543Trp) NC_000016.10:67950320:G:A Identity +NM_001040424.3:c.2334G>C NP_001035514.2:p.Glu778Asp NC_000021.9:41815762:C:G p.(Glu778Asp) NC_000021.9:41815762:C:G p.(Glu778Asp) NC_000021.9:41815762:C:G Identity +NM_001318781.2:c.4715G>A NP_001305710.1:p.Arg1572Gln NC_000003.12:64550961:C:T p.(Arg1572Gln) NC_000003.12:64550961:C:T p.(Arg1572Gln) NC_000003.12:64550961:C:T Identity +NM_025163.4:c.850G>A NP_079439.2:p.Ala284Thr NC_000003.12:196948046:C:T p.(Ala284Thr) NC_000003.12:196948046:C:T p.(Ala284Thr) NC_000003.12:196948046:C:T Identity +NM_199340.5:c.541C>A NP_955372.2:p.Gln181Lys NC_000017.11:64896716:G:T p.(Gln181Lys) NC_000017.11:64896716:G:T p.(Gln181Lys) NC_000017.11:64896716:G:T Identity +NM_005061.3:c.1060C>T NP_005052.1:p.His354Tyr NC_000016.10:1945605:G:A p.(His354Tyr) NC_000016.10:1945605:G:A p.(His354Tyr) NC_000016.10:1945605:G:A Identity +NM_001320185.2:c.128A>G NP_001307114.1:p.Tyr43Cys NC_000001.11:90005162:A:G p.(Tyr43Cys) NC_000001.11:90005162:A:G p.(Tyr43Cys) NC_000001.11:90005162:A:G Identity +NM_001394998.1:c.5377G>A NP_001381927.1:p.Val1793Met NC_000017.11:63421106:G:A p.(Val1793Met) NC_000017.11:63421106:G:A p.(Val1793Met) NC_000017.11:63421106:G:A Identity +NM_001386974.1:c.1034G>T NP_001373903.1:p.Gly345Val NC_000019.10:17985427:G:T p.(Gly345Val) NC_000019.10:17985427:G:T p.(Gly345Val) NC_000019.10:17985427:G:T Identity +NM_001307952.2:c.655G>A NP_001294881.1:p.Gly219Ser NC_000015.10:88881380:C:T p.(Gly219Ser) NC_000015.10:88881380:C:T p.(Gly219Ser) NC_000015.10:88881380:C:T Identity +NM_015425.6:c.3795C>A NP_056240.2:p.Ser1265Arg NC_000002.12:86039407:G:T p.(Ser1265Arg) NC_000002.12:86039407:G:T p.(Ser1265Arg) NC_000002.12:86039407:G:T Identity +NM_001039753.4:c.3746A>G NP_001034842.2:p.Asn1249Ser NC_000002.12:54928382:A:G p.(Asn1249Ser) NC_000002.12:54928382:A:G p.(Asn1249Ser) NC_000002.12:54928382:A:G Identity +NM_006435.3:c.382G>C NP_006426.2:p.Val128Leu NC_000011.10:309147:G:C p.(Val128Leu) NC_000011.10:309147:G:C p.(Val128Leu) NC_000011.10:309147:G:C Identity +NM_014611.3:c.12762G>C NP_055426.1:p.Arg4254Ser NC_000006.12:89674588:C:G p.(Arg4254Ser) NC_000006.12:89674588:C:G p.(Arg4254Ser) NC_000006.12:89674588:C:G Identity +NM_004667.6:c.7834C>G NP_004658.3:p.Gln2612Glu NC_000015.10:28198651:G:C p.(Gln2612Glu) NC_000015.10:28198651:G:C p.(Gln2612Glu) NC_000015.10:28198651:G:C Identity +NM_001324400.1:c.1355T>A NP_001311329.1:p.Met452Lys NC_000007.14:123115578:A:T p.(Met452Lys) NC_000007.14:123115578:A:T p.(Met452Lys) NC_000007.14:123115578:A:T Identity +NM_024578.3:c.427C>A NP_078854.1:p.Pro143Thr NC_000019.10:17227173:C:A p.(Pro143Thr) NC_000019.10:17227173:C:A p.(Pro143Thr) NC_000019.10:17227173:C:A Identity +NM_014335.3:c.65T>C NP_055150.1:p.Met22Thr NC_000015.10:48878240:T:C p.(Met22Thr) NC_000015.10:48878240:T:C p.(Met22Thr) NC_000015.10:48878240:T:C Identity +NM_032271.3:c.652G>T NP_115647.2:p.Ala218Ser NC_000016.10:2172366:G:T p.(Ala218Ser) NC_000016.10:2172366:G:T p.(Ala218Ser) NC_000016.10:2172366:G:T Identity +NM_001350283.2:c.1034T>G NP_001337212.1:p.Ile345Ser NC_000011.10:65863872:T:G p.(Ile345Ser) NC_000011.10:65863872:T:G p.(Ile345Ser) NC_000011.10:65863872:T:G Identity +NM_139022.3:c.634G>A NP_620591.3:p.Ala212Thr NC_000011.10:2316581:G:A p.(Ala212Thr) NC_000011.10:2316581:G:A p.(Ala212Thr) NC_000011.10:2316581:G:A Identity +NM_001256666.2:c.272C>T NP_001243595.1:p.Ala91Val NC_000004.12:2639840:C:T p.(Ala91Val) NC_000004.12:2639840:C:T p.(Ala91Val) NC_000004.12:2639840:C:T Identity +NM_001293083.2:c.5406A>G NP_001280012.1:p.Ile1802Met NC_000002.12:96702985:A:G p.(Ile1802Met) NC_000002.12:96702985:A:G p.(Ile1802Met) NC_000002.12:96702985:A:G Identity +NM_198693.4:c.196G>A NP_941966.1:p.Ala66Thr NC_000021.9:44551262:C:T p.(Ala66Thr) NC_000021.9:44551262:C:T p.(Ala66Thr) NC_000021.9:44551262:C:T Identity +NM_001017372.3:c.130C>G NP_001017372.1:p.Leu44Val NC_000005.10:128966266:C:G p.(Leu44Val) NC_000005.10:128966266:C:G p.(Leu44Val) NC_000005.10:128966266:C:G Identity +NM_001079536.2:c.242G>A NP_001073004.1:p.Gly81Glu NC_000011.10:3640186:C:T p.(Gly81Glu) NC_000011.10:3640186:C:T p.(Gly81Glu) NC_000011.10:3640186:C:T Identity +NM_015302.2:c.1825T>C NP_056117.1:p.Cys609Arg NC_000019.10:35622915:T:C p.(Cys609Arg) NC_000019.10:35622915:T:C p.(Cys609Arg) NC_000019.10:35622915:T:C Identity +NM_178134.3:c.578A>G NP_835235.1:p.Lys193Arg NC_000001.11:47084704:A:G p.(Lys193Arg) NC_000001.11:47084704:A:G p.(Lys193Arg) NC_000001.11:47084704:A:G Identity +NM_001258461.2:c.1082A>C NP_001245390.1:p.Gln361Pro NC_000007.14:151077656:T:G p.(Gln361Pro) NC_000007.14:151077656:T:G p.(Gln361Pro) NC_000007.14:151077656:T:G Identity +NM_001161841.2:c.19G>A NP_001155313.1:p.Val7Met NC_000020.11:47757344:C:T p.(Val7Met) NC_000020.11:47757344:C:T p.(Val7Met) NC_000020.11:47757344:C:T Identity +NM_153443.5:c.878G>A NP_703144.3:p.Cys293Tyr NC_000019.10:54729714:G:A p.(Cys293Tyr) NC_000019.10:54729714:G:A p.(Cys293Tyr) NC_000019.10:54729714:G:A Identity +NM_001346445.2:c.1141G>A NP_001333374.1:p.Glu381Lys NC_000011.10:62533275:C:T p.(Glu381Lys) NC_000011.10:62533275:C:T p.(Glu381Lys) NC_000011.10:62533275:C:T Identity +NM_001080414.4:c.3323A>C NP_001073883.2:p.Asn1108Thr NC_000014.9:91305798:T:G p.(Asn1108Thr) NC_000014.9:91305798:T:G p.(Asn1108Thr) NC_000014.9:91305798:T:G Identity +NM_001013742.4:c.2698A>G NP_001013764.1:p.Thr900Ala NC_000023.11:50380036:T:C p.(Thr900Ala) NC_000023.11:50380036:T:C p.(Thr900Ala) NC_000023.11:50380036:T:C Identity +NM_001160.3:c.179T>C NP_001151.1:p.Ile60Thr NC_000012.12:98648665:T:C p.(Ile60Thr) NC_000012.12:98648665:T:C p.(Ile60Thr) NC_000012.12:98648665:T:C Identity +NM_207377.3:c.313G>A NP_997260.1:p.Glu105Lys NC_000014.9:58407375:G:A p.(Glu105Lys) NC_000014.9:58407375:G:A p.(Glu105Lys) NC_000014.9:58407375:G:A Identity +NM_004479.4:c.271G>A NP_004470.1:p.Val91Met NC_000009.12:137031467:C:T p.(Val91Met) NC_000009.12:137031467:C:T p.(Val91Met) NC_000009.12:137031467:C:T Identity +NM_001195220.2:c.1502G>A NP_001182149.1:p.Arg501Gln NC_000007.14:149282203:G:A p.(Arg501Gln) NC_000007.14:149282203:G:A p.(Arg501Gln) NC_000007.14:149282203:G:A Identity +NM_001300821.3:c.968G>A NP_001287750.1:p.Arg323His NC_000012.12:53028176:G:A p.(Arg323His) NC_000012.12:53028176:G:A p.(Arg323His) NC_000012.12:53028176:G:A Identity +NM_001367973.1:c.1024G>A NP_001354902.1:p.Asp342Asn NC_000011.10:134381957:C:T p.(Asp342Asn) NC_000011.10:134381957:C:T p.(Asp342Asn) NC_000011.10:134381957:C:T Identity +NM_001166400.2:c.203C>T NP_001159872.1:p.Ala68Val NC_000023.11:149884474:C:T p.(Ala68Val) NC_000023.11:149884474:C:T p.(Ala68Val) NC_000023.11:149884474:C:T Identity +NM_001255978.2:c.1165G>A NP_001242907.1:p.Val389Met NC_000001.11:153974041:G:A p.(Val389Met) NC_000001.11:153974041:G:A p.(Val389Met) NC_000001.11:153974041:G:A Identity +NM_001164465.3:c.730C>T NP_001157937.2:p.Arg244Cys NC_000015.10:82345129:G:A p.(Arg244Cys) NC_000015.10:82345129:G:A p.(Arg244Cys) NC_000015.10:82345129:G:A Identity +NM_001159643.2:c.2245C>G NP_001153115.1:p.Leu749Val NC_000015.10:94470381:C:G p.(Leu749Val) NC_000015.10:94470381:C:G p.(Leu749Val) NC_000015.10:94470381:C:G Identity +NM_001005240.3:c.842C>T NP_001005240.1:p.Thr281Ile NC_000019.10:111519:C:T p.(Thr281Ile) NC_000019.10:111519:C:T p.(Thr281Ile) NC_000019.10:111519:C:T Identity +NM_001306215.2:c.593C>G NP_001293144.1:p.Pro198Arg NC_000004.12:145902665:G:C p.(Pro198Arg) NC_000004.12:145902665:G:C p.(Pro198Arg) NC_000004.12:145902665:G:C Identity +NM_152531.5:c.350A>C NP_689744.3:p.Lys117Thr NC_000003.12:195270708:T:G p.(Lys117Thr) NC_000003.12:195270708:T:G p.(Lys117Thr) NC_000003.12:195270708:T:G Identity +NM_001410839.1:c.1786C>T NP_001397768.1:p.Arg596Cys NC_000022.11:19974206:G:A p.(Arg596Cys) NC_000022.11:19974206:G:A p.(Arg596Cys) NC_000022.11:19974206:G:A Identity +NM_001198786.2:c.19G>C NP_001185715.1:p.Ala7Pro NC_000001.11:167220915:G:C p.(Ala7Pro) NC_000001.11:167220915:G:C p.(Ala7Pro) NC_000001.11:167220915:G:C Identity +NM_001307990.2:c.283G>A NP_001294919.1:p.Gly95Arg NC_000011.10:64802445:C:T p.(Gly95Arg) NC_000011.10:64802445:C:T p.(Gly95Arg) NC_000011.10:64802445:C:T Identity +NM_001308363.2:c.1879C>T NP_001295292.1:p.Arg627Trp NC_000019.10:17727340:C:T p.(Arg627Trp) NC_000019.10:17727340:C:T p.(Arg627Trp) NC_000019.10:17727340:C:T Identity +NM_001080397.3:c.86C>T NP_001073866.3:p.Thr29Met NC_000001.11:8324414:C:T p.(Thr29Met) NC_000001.11:8324414:C:T p.(Thr29Met) NC_000001.11:8324414:C:T Identity +NM_001039845.3:c.104A>G NP_001034934.1:p.His35Arg NC_000002.12:206760931:T:C p.(His35Arg) NC_000002.12:206760931:T:C p.(His35Arg) NC_000002.12:206760931:T:C Identity +NM_001855.5:c.3878G>A NP_001846.3:p.Gly1293Asp NC_000009.12:99068594:G:A p.(Gly1293Asp) NC_000009.12:99068594:G:A p.(Gly1293Asp) NC_000009.12:99068594:G:A Identity +NM_001320333.2:c.315G>C NP_001307262.1:p.Gln105His NC_000001.11:157697902:C:G p.(Gln105His) NC_000001.11:157697902:C:G p.(Gln105His) NC_000001.11:157697902:C:G Identity +NM_001161630.1:c.616C>G NP_001155102.1:p.Pro206Ala NC_000011.10:95026172:C:G p.(Pro206Ala) NC_000011.10:95026172:C:G p.(Pro206Ala) NC_000011.10:95026172:C:G Identity +NM_001161630.1:c.1328G>A NP_001155102.1:p.Arg443His NC_000011.10:95026884:G:A p.(Arg443His) NC_000011.10:95026884:G:A p.(Arg443His) NC_000011.10:95026884:G:A Identity +NM_001099338.2:c.509C>T NP_001092808.1:p.Ala170Val NC_000010.11:87228388:C:T p.(Ala170Val) NC_000010.11:87228388:C:T p.(Ala170Val) NC_000010.11:87228388:C:T Identity +NM_020431.4:c.523A>G NP_065164.2:p.Ile175Val NC_000014.9:77233480:A:G p.(Ile175Val) NC_000014.9:77233480:A:G p.(Ile175Val) NC_000014.9:77233480:A:G Identity +NM_001362862.2:c.5554C>T NP_001349791.1:p.Pro1852Ser NC_000022.11:20712721:G:A p.(Pro1852Ser) NC_000022.11:20712721:G:A p.(Pro1852Ser) NC_000022.11:20712721:G:A Identity +NM_030785.4:c.1598A>C NP_110412.1:p.Glu533Ala NC_000019.10:45804306:T:G p.(Glu533Ala) NC_000019.10:45804306:T:G p.(Glu533Ala) NC_000019.10:45804306:T:G Identity +NM_001004304.4:c.71A>C NP_001004304.1:p.Lys24Thr NC_000012.12:53184951:A:C p.(Lys24Thr) NC_000012.12:53184951:A:C p.(Lys24Thr) NC_000012.12:53184951:A:C Identity +NM_033449.3:c.352G>A NP_258260.1:p.Ala118Thr NC_000005.10:141649417:C:T p.(Ala118Thr) NC_000005.10:141649417:C:T p.(Ala118Thr) NC_000005.10:141649417:C:T Identity +NM_001286796.2:c.136C>T NP_001273725.1:p.Arg46Trp NC_000009.12:129632838:C:T p.(Arg46Trp) NC_000009.12:129632838:C:T p.(Arg46Trp) NC_000009.12:129632838:C:T Identity +NM_178468.6:c.868G>A NP_848563.1:p.Val290Met NC_000020.11:35287910:C:T p.(Val290Met) NC_000020.11:35287910:C:T p.(Val290Met) NC_000020.11:35287910:C:T Identity +NM_182572.4:c.1040C>T NP_872378.3:p.Pro347Leu NC_000019.10:58053863:C:T p.(Pro347Leu) NC_000019.10:58053863:C:T p.(Pro347Leu) NC_000019.10:58053863:C:T Identity +NM_175710.2:c.1253T>A NP_783641.1:p.Val418Asp NC_000001.11:207701542:T:A p.(Val418Asp) NC_000001.11:207701542:T:A p.(Val418Asp) NC_000001.11:207701542:T:A Identity +NM_032246.6:c.19G>A NP_115622.2:p.Ala7Thr NC_000015.10:82045686:C:T p.(Ala7Thr) NC_000015.10:82045686:C:T p.(Ala7Thr) NC_000015.10:82045686:C:T Identity +NM_182588.3:c.1316C>G NP_872394.2:p.Thr439Ser NC_000002.12:107859152:C:G p.(Thr439Ser) NC_000002.12:107859152:C:G p.(Thr439Ser) NC_000002.12:107859152:C:G Identity +NM_001317950.2:c.1034A>G NP_001304879.1:p.Asn345Ser NC_000009.12:114376772:T:C p.(Asn345Ser) NC_000009.12:114376772:T:C p.(Asn345Ser) NC_000009.12:114376772:T:C Identity +NM_024637.5:c.854C>A NP_078913.3:p.Ser285Tyr NC_000007.14:100160534:G:T p.(Ser285Tyr) NC_000007.14:100160534:G:T p.(Ser285Tyr) NC_000007.14:100160534:G:T Identity +NM_001289823.2:c.1666G>A NP_001276752.1:p.Glu556Lys NC_000015.10:90880799:G:A p.(Glu556Lys) NC_000015.10:90880799:G:A p.(Glu556Lys) NC_000015.10:90880799:G:A Identity +NM_001143668.1:c.1381G>A NP_001137140.1:p.Gly461Ser NC_000012.12:47077621:C:T p.(Gly461Ser) NC_000012.12:47077621:C:T p.(Gly461Ser) NC_000012.12:47077621:C:T Identity +NM_001199160.2:c.528A>T NP_001186089.1:p.Lys176Asn NC_000003.12:49117514:T:A p.(Lys176Asn) NC_000003.12:49117514:T:A p.(Lys176Asn) NC_000003.12:49117514:T:A Identity +NM_001197259.2:c.1355C>T NP_001184188.1:p.Pro452Leu NC_000006.12:87663094:C:T p.(Pro452Leu) NC_000006.12:87663094:C:T p.(Pro452Leu) NC_000006.12:87663094:C:T Identity +NM_001109754.4:c.35G>A NP_001103224.1:p.Cys12Tyr NC_000012.12:70637360:C:T p.(Cys12Tyr) NC_000012.12:70637360:C:T p.(Cys12Tyr) NC_000012.12:70637360:C:T Identity +NM_001161630.1:c.1355G>A NP_001155102.1:p.Ser452Asn NC_000011.10:95026911:G:A p.(Ser452Asn) NC_000011.10:95026911:G:A p.(Ser452Asn) NC_000011.10:95026911:G:A Identity +NM_001039548.3:c.232G>A NP_001034637.2:p.Gly78Ser NC_000011.10:75430397:C:T p.(Gly78Ser) NC_000011.10:75430397:C:T p.(Gly78Ser) NC_000011.10:75430397:C:T Identity +NM_015117.3:c.1313C>T NP_055932.2:p.Ala438Val NC_000008.11:143538053:G:A p.(Ala438Val) NC_000008.11:143538053:G:A p.(Ala438Val) NC_000008.11:143538053:G:A Identity +NM_153610.5:c.5412G>C NP_705838.3:p.Gln1804His NC_000005.10:79734176:G:C p.(Gln1804His) NC_000005.10:79734176:G:C p.(Gln1804His) NC_000005.10:79734176:G:C Identity +NM_000716.3:c.29T>C NP_000707.1:p.Met10Thr NC_000001.11:207089559:T:C p.(Met10Thr) NC_000001.11:207089559:T:C p.(Met10Thr) NC_000001.11:207089559:T:C Identity +NM_201400.4:c.290C>T NP_958802.1:p.Ala97Val NC_000016.10:5091845:G:A p.(Ala97Val) NC_000016.10:5091845:G:A p.(Ala97Val) NC_000016.10:5091845:G:A Identity +NM_001039211.3:c.389G>A NP_001034300.2:p.Arg130Gln NC_000001.11:1455469:G:A p.(Arg130Gln) NC_000001.11:1455469:G:A p.(Arg130Gln) NC_000001.11:1455469:G:A Identity +NM_001317950.2:c.590C>T NP_001304879.1:p.Pro197Leu NC_000009.12:114377216:G:A p.(Pro197Leu) NC_000009.12:114377216:G:A p.(Pro197Leu) NC_000009.12:114377216:G:A Identity +NM_001317939.2:c.1877A>G NP_001304868.1:p.Asn626Ser NC_000009.12:16436190:T:C p.(Asn626Ser) NC_000009.12:16436190:T:C p.(Asn626Ser) NC_000009.12:16436190:T:C Identity +NM_001318134.2:c.1270G>A NP_001305063.1:p.Val424Ile NC_000004.12:882716:C:T p.(Val424Ile) NC_000004.12:882716:C:T p.(Val424Ile) NC_000004.12:882716:C:T Identity +NM_001320766.2:c.2689T>G NP_001307695.2:p.Ser897Ala NC_000021.9:28958401:A:C p.(Ser897Ala) NC_000021.9:28958401:A:C p.(Ser897Ala) NC_000021.9:28958401:A:C Identity +NM_001040011.2:c.44G>C NP_001035100.2:p.Arg15Pro NC_000009.12:128276383:G:C p.(Arg15Pro) NC_000009.12:128276383:G:C p.(Arg15Pro) NC_000009.12:128276383:G:C Identity +NM_014652.4:c.2587C>T NP_055467.3:p.Arg863Cys NC_000001.11:43966992:C:T p.(Arg863Cys) NC_000001.11:43966992:C:T p.(Arg863Cys) NC_000001.11:43966992:C:T Identity +NM_001317916.2:c.2464G>A NP_001304845.1:p.Gly822Arg NC_000009.12:66920029:G:A p.(Gly822Arg) NC_000009.12:66920029:G:A p.(Gly822Arg) NC_000009.12:66920029:G:A Identity +NM_032251.6:c.4265G>A NP_115627.6:p.Arg1422His NC_000011.10:64355358:G:A p.(Arg1422His) NC_000011.10:64355358:G:A p.(Arg1422His) NC_000011.10:64355358:G:A Identity +NM_001159291.2:c.1762C>A NP_001152763.1:p.Pro588Thr NC_000006.12:109447406:G:T p.(Pro588Thr) NC_000006.12:109447406:G:T p.(Pro588Thr) NC_000006.12:109447406:G:T Identity +NM_001077706.3:c.743C>T NP_001071174.1:p.Ser248Leu NC_000006.12:138844558:C:T p.(Ser248Leu) NC_000006.12:138844558:C:T p.(Ser248Leu) NC_000006.12:138844558:C:T Identity +NM_020877.5:c.7690C>T NP_065928.2:p.Arg2564Cys NC_000017.11:7796478:C:T p.(Arg2564Cys) NC_000017.11:7796478:C:T p.(Arg2564Cys) NC_000017.11:7796478:C:T Identity +NM_182924.4:c.1135G>A NP_891554.1:p.Gly379Arg NC_000007.14:1444934:C:T p.(Gly379Arg) NC_000007.14:1444934:C:T p.(Gly379Arg) NC_000007.14:1444934:C:T Identity +NM_001317224.2:c.937G>A NP_001304153.1:p.Gly313Ser NC_000005.10:24511391:C:T p.(Gly313Ser) NC_000005.10:24511391:C:T p.(Gly313Ser) NC_000005.10:24511391:C:T Identity +NM_001303052.2:c.869C>T NP_001289981.1:p.Ser290Leu NC_000002.12:1922899:G:A p.(Ser290Leu) NC_000002.12:1922899:G:A p.(Ser290Leu) NC_000002.12:1922899:G:A Identity +NM_020394.5:c.668A>G NP_065127.5:p.Glu223Gly NC_000001.11:246987846:T:C p.(Glu223Gly) NC_000001.11:246987846:T:C p.(Glu223Gly) NC_000001.11:246987846:T:C Identity +NM_001136031.3:c.1774G>A NP_001129503.2:p.Val592Ile NC_000003.12:11362902:G:A p.(Val592Ile) NC_000003.12:11362902:G:A p.(Val592Ile) NC_000003.12:11362902:G:A Identity +NM_001284527.2:c.1324T>C NP_001271456.1:p.Ser442Pro NC_000016.10:3383621:A:G p.(Ser442Pro) NC_000016.10:3383621:A:G p.(Ser442Pro) NC_000016.10:3383621:A:G Identity +NM_001193388.4:c.1180A>G NP_001180317.2:p.Ser394Gly NC_000016.10:1385291:T:C p.(Ser394Gly) NC_000016.10:1385291:T:C p.(Ser394Gly) NC_000016.10:1385291:T:C Identity +NM_001099337.2:c.644C>G NP_001092807.1:p.Thr215Ser NC_000012.12:56270312:C:G p.(Thr215Ser) NC_000012.12:56270312:C:G p.(Thr215Ser) NC_000012.12:56270312:C:G Identity +NM_001142614.2:c.1100C>T NP_001136086.1:p.Pro367Leu NC_000002.12:62874446:C:T p.(Pro367Leu) NC_000002.12:62874446:C:T p.(Pro367Leu) NC_000002.12:62874446:C:T Identity +NM_001085363.1:c.1300T>C NP_001078832.1:p.Phe434Leu NC_000019.10:1556218:A:G ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found +NM_001038640.2:c.1955T>A NP_001033729.2:p.Val652Asp NC_000015.10:74071036:A:T p.(Val652Asp) NC_000015.10:74071036:A:T p.(Val652Asp) NC_000015.10:74071036:A:T Identity +NM_001007022.4:c.1798A>G NP_001007023.2:p.Arg600Gly NC_000001.11:86352953:T:C p.(Arg600Gly) NC_000001.11:86352953:T:C p.(Arg600Gly) NC_000001.11:86352953:T:C Identity +NM_032664.3:c.1231T>C NP_116053.3:p.Trp411Arg NC_000008.11:33372785:A:G p.(Trp411Arg) NC_000008.11:33372785:A:G p.(Trp411Arg) NC_000008.11:33372785:A:G Identity +NM_178422.6:c.971G>A NP_848509.1:p.Gly324Asp NC_000001.11:25862868:C:T p.(Gly324Asp) NC_000001.11:25862868:C:T p.(Gly324Asp) NC_000001.11:25862868:C:T Identity +NM_001083537.4:c.549C>A NP_001077006.1:p.Asp183Glu NC_000008.11:12186442:G:T p.(Asp183Glu) NC_000008.11:12186442:G:T p.(Asp183Glu) NC_000008.11:12186442:G:T Identity +NM_001282962.2:c.1648T>C NP_001269891.1:p.Cys550Arg NC_000002.12:233840969:A:G p.(Cys550Arg) NC_000002.12:233840969:A:G p.(Cys550Arg) NC_000002.12:233840969:A:G Identity +NM_015907.3:c.649G>A NP_056991.2:p.Glu217Lys NC_000004.12:17585080:G:A p.(Glu217Lys) NC_000004.12:17585080:G:A p.(Glu217Lys) NC_000004.12:17585080:G:A Identity +NM_003185.4:c.973G>T NP_003176.2:p.Val325Phe NC_000020.11:62064837:C:A p.(Val325Phe) NC_000020.11:62064837:C:A p.(Val325Phe) NC_000020.11:62064837:C:A Identity +NM_001167576.2:c.1573G>A NP_001161048.1:p.Asp525Asn NC_000005.10:136231472:C:T p.(Asp525Asn) NC_000005.10:136231472:C:T p.(Asp525Asn) NC_000005.10:136231472:C:T Identity +NM_018228.3:c.580C>T NP_060698.2:p.Arg194Cys NC_000014.9:74357362:C:T p.(Arg194Cys) NC_000014.9:74357362:C:T p.(Arg194Cys) NC_000014.9:74357362:C:T Identity +NM_001017437.5:c.452C>A NP_001017437.3:p.Ser151Tyr NC_000022.11:30370356:C:A p.(Ser151Tyr) NC_000022.11:30370356:C:A p.(Ser151Tyr) NC_000022.11:30370356:C:A Identity +NM_021025.4:c.97C>T NP_066305.2:p.Pro33Ser NC_000005.10:171309461:C:T p.(Pro33Ser) NC_000005.10:171309461:C:T p.(Pro33Ser) NC_000005.10:171309461:C:T Identity +NM_153603.4:c.1129G>A NP_705831.1:p.Val377Met NC_000016.10:23418707:C:T p.(Val377Met) NC_000016.10:23418707:C:T p.(Val377Met) NC_000016.10:23418707:C:T Identity +NM_004342.7:c.626A>G NP_004333.1:p.Lys209Arg NC_000007.14:134941095:A:G p.(Lys209Arg) NC_000007.14:134941095:A:G p.(Lys209Arg) NC_000007.14:134941095:A:G Identity +NM_001323281.2:c.214C>T NP_001310210.1:p.Arg72Cys NC_000020.11:37047162:G:A p.(Arg72Cys) NC_000020.11:37047162:G:A p.(Arg72Cys) NC_000020.11:37047162:G:A Identity +NM_016545.5:c.695C>G NP_057629.2:p.Pro232Arg NC_000001.11:181089596:C:G p.(Pro232Arg) NC_000001.11:181089596:C:G p.(Pro232Arg) NC_000001.11:181089596:C:G Identity +NM_001098634.2:c.1674C>G NP_001092104.1:p.Asn558Lys NC_000004.12:40426011:G:C p.(Asn558Lys) NC_000004.12:40426011:G:C p.(Asn558Lys) NC_000004.12:40426011:G:C Identity +NM_032827.7:c.923G>T NP_116216.2:p.Arg308Leu NC_000002.12:85764144:G:T p.(Arg308Leu) NC_000002.12:85764144:G:T p.(Arg308Leu) NC_000002.12:85764144:G:T Identity +NM_001370464.1:c.935C>T NP_001357393.1:p.Thr312Ile NC_000011.10:18138136:C:T p.(Thr312Ile) NC_000011.10:18138136:C:T p.(Thr312Ile) NC_000011.10:18138136:C:T Identity +NM_001143919.3:c.334A>G NP_001137391.1:p.Ser112Gly NC_000014.9:24315984:A:G p.(Ser112Gly) NC_000014.9:24315984:A:G p.(Ser112Gly) NC_000014.9:24315984:A:G Identity +NM_001317996.2:c.1535G>A NP_001304925.1:p.Arg512Gln NC_000022.11:21695461:G:A p.(Arg512Gln) NC_000022.11:21695461:G:A p.(Arg512Gln) NC_000022.11:21695461:G:A Identity +NM_001164586.2:c.3712G>A NP_001158058.1:p.Gly1238Ser NC_000001.11:201208604:G:A p.(Gly1238Ser) NC_000001.11:201208604:G:A p.(Gly1238Ser) NC_000001.11:201208604:G:A Identity +NM_006183.5:c.346T>C NP_006174.1:p.Phe116Leu NC_000012.12:85878554:T:C p.(Phe116Leu) NC_000012.12:85878554:T:C p.(Phe116Leu) NC_000012.12:85878554:T:C Identity +NM_001193388.4:c.1876A>G NP_001180317.2:p.Lys626Glu NC_000016.10:1367261:T:C p.(Lys626Glu) NC_000016.10:1367261:T:C p.(Lys626Glu) NC_000016.10:1367261:T:C Identity +NM_001320147.2:c.1330G>A NP_001307076.1:p.Ala444Thr NC_000003.12:49859400:C:T p.(Ala444Thr) NC_000003.12:49859400:C:T p.(Ala444Thr) NC_000003.12:49859400:C:T Identity +NM_001167749.3:c.2626G>A NP_001161221.1:p.Glu876Lys NC_000001.11:167836532:C:T p.(Glu876Lys) NC_000001.11:167836532:C:T p.(Glu876Lys) NC_000001.11:167836532:C:T Identity +NM_001191055.2:c.1499A>G NP_001177984.1:p.Glu500Gly NC_000019.10:53050749:A:G p.(Glu500Gly) NC_000019.10:53050749:A:G p.(Glu500Gly) NC_000019.10:53050749:A:G Identity +NM_001282857.2:c.4676C>T NP_001269786.1:p.Ser1559Leu NC_000003.12:142312703:G:A p.(Ser1559Leu) NC_000003.12:142312703:G:A p.(Ser1559Leu) NC_000003.12:142312703:G:A Identity +NM_001282855.2:c.1475C>T NP_001269784.1:p.Thr492Ile NC_000007.14:123469319:G:A p.(Thr492Ile) NC_000007.14:123469319:G:A p.(Thr492Ile) NC_000007.14:123469319:G:A Identity +NM_199135.4:c.764C>T NP_954586.4:p.Pro255Leu NC_000009.12:68303714:C:T p.(Pro255Leu) NC_000009.12:68303714:C:T p.(Pro255Leu) NC_000009.12:68303714:C:T Identity +NM_173545.3:c.545G>A NP_775816.1:p.Arg182Lys NC_000002.12:68513602:G:A p.(Arg182Lys) NC_000002.12:68513602:G:A p.(Arg182Lys) NC_000002.12:68513602:G:A Identity +NM_001286365.2:c.1094C>T NP_001273294.1:p.Pro365Leu NC_000001.11:36176552:C:T p.(Pro365Leu) NC_000001.11:36176552:C:T p.(Pro365Leu) NC_000001.11:36176552:C:T Identity +NM_001291978.2:c.1571C>G NP_001278907.1:p.Ala524Gly NC_000004.12:2946475:G:C p.(Ala524Gly) NC_000004.12:2946475:G:C p.(Ala524Gly) NC_000004.12:2946475:G:C Identity +NM_001128628.3:c.610C>G NP_001122100.1:p.Pro204Ala NC_000015.10:40266246:C:G p.(Pro204Ala) NC_000015.10:40266246:C:G p.(Pro204Ala) NC_000015.10:40266246:C:G Identity +NM_145285.3:c.862A>G NP_660328.2:p.Ser288Gly NC_000010.11:99535487:A:G p.(Ser288Gly) NC_000010.11:99535487:A:G p.(Ser288Gly) NC_000010.11:99535487:A:G Identity +NM_005764.4:c.205G>A NP_005755.1:p.Gly69Arg NC_000001.11:47185068:C:T p.(Gly69Arg) NC_000001.11:47185068:C:T p.(Gly69Arg) NC_000001.11:47185068:C:T Identity +NM_001193308.2:c.788C>A NP_001180237.1:p.Ala263Glu NC_000001.11:27350011:C:A p.(Ala263Glu) NC_000001.11:27350011:C:A p.(Ala263Glu) NC_000001.11:27350011:C:A Identity +NM_001350599.2:c.3205A>G NP_001337528.1:p.Ile1069Val NC_000006.12:97165261:T:C p.(Ile1069Val) NC_000006.12:97165261:T:C p.(Ile1069Val) NC_000006.12:97165261:T:C Identity +NM_024074.4:c.94G>C NP_076979.1:p.Val32Leu NC_000019.10:16661310:G:C p.(Val32Leu) NC_000019.10:16661310:G:C p.(Val32Leu) NC_000019.10:16661310:G:C Identity +NM_001004728.2:c.628G>A NP_001004728.1:p.Gly210Arg NC_000011.10:59443795:G:A p.(Gly210Arg) NC_000011.10:59443795:G:A p.(Gly210Arg) NC_000011.10:59443795:G:A Identity +NM_001004064.2:c.364C>T NP_001004064.1:p.Arg122Cys NC_000011.10:56137354:G:A p.(Arg122Cys) NC_000011.10:56137354:G:A p.(Arg122Cys) NC_000011.10:56137354:G:A Identity +NM_171999.4:c.779G>C NP_741996.2:p.Gly260Ala NC_000018.10:78992769:G:C p.(Gly260Ala) NC_000018.10:78992769:G:C p.(Gly260Ala) NC_000018.10:78992769:G:C Identity +NM_001350727.2:c.3929G>A NP_001337656.1:p.Arg1310Gln NC_000004.12:176179562:G:A p.(Arg1310Gln) NC_000004.12:176179562:G:A p.(Arg1310Gln) NC_000004.12:176179562:G:A Identity +NM_001242318.3:c.1210C>T NP_001229247.1:p.Arg404Cys NC_000008.11:65723573:G:A p.(Arg404Cys) NC_000008.11:65723573:G:A p.(Arg404Cys) NC_000008.11:65723573:G:A Identity +NM_001897.5:c.5624C>A NP_001888.2:p.Ala1875Glu NC_000015.10:75676894:G:T p.(Ala1875Glu) NC_000015.10:75676894:G:T p.(Ala1875Glu) NC_000015.10:75676894:G:T Identity +NM_001135774.2:c.1417G>A NP_001129246.1:p.Gly473Arg NC_000022.11:32518232:C:T p.(Gly473Arg) NC_000022.11:32518232:C:T p.(Gly473Arg) NC_000022.11:32518232:C:T Identity +NM_001291978.2:c.2480C>T NP_001278907.1:p.Ala827Val NC_000004.12:2938924:G:A p.(Ala827Val) NC_000004.12:2938924:G:A p.(Ala827Val) NC_000004.12:2938924:G:A Identity +NM_198471.3:c.725A>T NP_940873.2:p.Asp242Val NC_000019.10:8335101:T:A p.(Asp242Val) NC_000019.10:8335101:T:A p.(Asp242Val) NC_000019.10:8335101:T:A Identity +NM_001385642.1:c.485G>C NP_001372571.1:p.Ser162Thr NC_000019.10:2410320:G:C p.(Ser162Thr) NC_000019.10:2410320:G:C p.(Ser162Thr) NC_000019.10:2410320:G:C Identity +NM_001004463.2:c.598G>T NP_001004463.1:p.Val200Leu NC_000011.10:124038403:C:A p.(Val200Leu) NC_000011.10:124038403:C:A p.(Val200Leu) NC_000011.10:124038403:C:A Identity +NM_001111077.2:c.1606A>G NP_001104547.1:p.Ser536Gly NC_000006.12:158767068:T:C p.(Ser536Gly) NC_000006.12:158767068:T:C p.(Ser536Gly) NC_000006.12:158767068:T:C Identity +NM_005015.5:c.545G>A NP_005006.4:p.Arg182Gln NC_000014.9:22769895:G:A p.(Arg182Gln) NC_000014.9:22769895:G:A p.(Arg182Gln) NC_000014.9:22769895:G:A Identity +NM_001013647.2:c.832A>G NP_001013669.1:p.Met278Val NC_000022.11:38626197:T:C p.(Met278Val) NC_000022.11:38626197:T:C p.(Met278Val) NC_000022.11:38626197:T:C Identity +NM_152550.4:c.1987G>A NP_689763.4:p.Gly663Arg NC_000005.10:146062497:G:A p.(Gly663Arg) NC_000005.10:146062497:G:A p.(Gly663Arg) NC_000005.10:146062497:G:A Identity +NM_001005189.2:c.432G>C NP_001005189.1:p.Gln144His NC_000001.11:158547673:C:G p.(Gln144His) NC_000001.11:158547673:C:G p.(Gln144His) NC_000001.11:158547673:C:G Identity +NM_033103.5:c.155G>A NP_149094.3:p.Arg52Gln NC_000019.10:33044278:C:T p.(Arg52Gln) NC_000019.10:33044278:C:T p.(Arg52Gln) NC_000019.10:33044278:C:T Identity +NM_001005471.2:c.274A>G NP_001005471.1:p.Ile92Val NC_000001.11:248387881:A:G p.(Ile92Val) NC_000001.11:248387881:A:G p.(Ile92Val) NC_000001.11:248387881:A:G Identity +NM_001105581.3:c.7G>A NP_001099051.1:p.Ala3Thr NC_000018.10:7231144:G:A p.(Ala3Thr) NC_000018.10:7231144:G:A p.(Ala3Thr) NC_000018.10:7231144:G:A Identity +NM_001085452.4:c.910C>T NP_001078921.3:p.Arg304Cys NC_000009.12:39358674:C:T p.(Arg304Cys) NC_000009.12:39358674:C:T p.(Arg304Cys) NC_000009.12:39358674:C:T Identity +NM_005963.4:c.1686A>T NP_005954.3:p.Lys562Asn NC_000017.11:10508573:T:A p.(Lys562Asn) NC_000017.11:10508573:T:A p.(Lys562Asn) NC_000017.11:10508573:T:A Identity +NM_001164771.2:c.87C>A NP_001158243.1:p.Ser29Arg NC_000008.11:17538910:C:A p.(Ser29Arg) NC_000008.11:17538910:C:A p.(Ser29Arg) NC_000008.11:17538910:C:A Identity +NM_018077.3:c.490C>T NP_060547.2:p.Leu164Phe NC_000007.14:128338300:G:A p.(Leu164Phe) NC_000007.14:128338300:G:A p.(Leu164Phe) NC_000007.14:128338300:G:A Identity +NM_001164144.3:c.1345T>C NP_001157616.1:p.Trp449Arg NC_000013.11:114325186:T:C p.(Trp449Arg) NC_000013.11:114325186:T:C p.(Trp449Arg) NC_000013.11:114325186:T:C Identity +NM_001207052.2:c.530G>A NP_001193981.2:p.Arg177Gln NC_000022.11:21469007:G:A p.(Arg177Gln) NC_000022.11:21469007:G:A p.(Arg177Gln) NC_000022.11:21469007:G:A Identity +NM_173563.3:c.650G>A NP_775834.2:p.Ser217Asn NC_000006.12:4069572:C:T p.(Ser217Asn) NC_000006.12:4069572:C:T p.(Ser217Asn) NC_000006.12:4069572:C:T Identity +NM_004104.5:c.4462C>T NP_004095.4:p.Pro1488Ser NC_000017.11:82084900:G:A p.(Pro1488Ser) NC_000017.11:82084900:G:A p.(Pro1488Ser) NC_000017.11:82084900:G:A Identity +NM_020163.3:c.460C>G NP_064548.1:p.His154Asp NC_000003.12:52441908:G:C p.(His154Asp) NC_000003.12:52441908:G:C p.(His154Asp) NC_000003.12:52441908:G:C Identity +NM_001016.4:c.40G>A NP_001007.2:p.Val14Ile NC_000006.12:132814996:G:A p.(Val14Ile) NC_000006.12:132814996:G:A p.(Val14Ile) NC_000006.12:132814996:G:A Identity +NM_006239.3:c.1209G>C NP_006230.2:p.Gln403His NC_000004.12:75876397:C:G p.(Gln403His) NC_000004.12:75876397:C:G p.(Gln403His) NC_000004.12:75876397:C:G Identity +NM_001184917.3:c.1186G>A NP_001171846.1:p.Ala396Thr NC_000017.11:81904870:C:T p.(Ala396Thr) NC_000017.11:81904870:C:T p.(Ala396Thr) NC_000017.11:81904870:C:T Identity +NM_001127182.2:c.1154G>A NP_001120654.2:p.Arg385Gln NC_000010.11:93519769:G:A p.(Arg385Gln) NC_000010.11:93519769:G:A p.(Arg385Gln) NC_000010.11:93519769:G:A Identity +NM_002233.4:c.1087G>A NP_002224.1:p.Gly363Arg NC_000011.10:30011591:C:T p.(Gly363Arg) NC_000011.10:30011591:C:T p.(Gly363Arg) NC_000011.10:30011591:C:T Identity +NM_004155.6:c.373G>T NP_004146.1:p.Ala125Ser NC_000006.12:2895441:C:A p.(Ala125Ser) NC_000006.12:2895441:C:A p.(Ala125Ser) NC_000006.12:2895441:C:A Identity +NM_001199317.2:c.352C>T NP_001186246.1:p.Arg118Trp NC_000016.10:66587062:C:T p.(Arg118Trp) NC_000016.10:66587062:C:T p.(Arg118Trp) NC_000016.10:66587062:C:T Identity +NM_001193482.2:c.70G>A NP_001180411.1:p.Ala24Thr NC_000002.12:108659665:G:A p.(Ala24Thr) NC_000002.12:108659665:G:A p.(Ala24Thr) NC_000002.12:108659665:G:A Identity +NM_001080434.2:c.3403G>T NP_001073903.2:p.Ala1135Ser NC_000019.10:48497665:C:A p.(Ala1135Ser) NC_000019.10:48497665:C:A p.(Ala1135Ser) NC_000019.10:48497665:C:A Identity +NM_001098814.2:c.586G>A NP_001092284.1:p.Glu196Lys NC_000016.10:4195576:C:T p.(Glu196Lys) NC_000016.10:4195576:C:T p.(Glu196Lys) NC_000016.10:4195576:C:T Identity +NM_001286433.2:c.191G>A NP_001273362.1:p.Arg64Gln NC_000016.10:399088:G:A p.(Arg64Gln) NC_000016.10:399088:G:A p.(Arg64Gln) NC_000016.10:399088:G:A Identity +NM_001243.5:c.458C>T NP_001234.3:p.Ser153Phe NC_000001.11:12109601:C:T p.(Ser153Phe) NC_000001.11:12109601:C:T p.(Ser153Phe) NC_000001.11:12109601:C:T Identity +NM_001085452.4:c.484C>T NP_001078921.3:p.Pro162Ser NC_000009.12:39358248:C:T p.(Pro162Ser) NC_000009.12:39358248:C:T p.(Pro162Ser) NC_000009.12:39358248:C:T Identity +NM_001013694.3:c.694A>C NP_001013716.2:p.Ser232Arg NC_000022.11:26490127:A:C p.(Ser232Arg) NC_000022.11:26490127:A:C p.(Ser232Arg) NC_000022.11:26490127:A:C Identity +NM_024923.4:c.4381G>A NP_079199.2:p.Ala1461Thr NC_000003.12:13327342:C:T p.(Ala1461Thr) NC_000003.12:13327342:C:T p.(Ala1461Thr) NC_000003.12:13327342:C:T Identity +NM_145804.3:c.2847G>A NP_665803.2:p.Met949Ile NC_000011.10:34154297:C:T p.(Met949Ile) NC_000011.10:34154297:C:T p.(Met949Ile) NC_000011.10:34154297:C:T Identity +NM_022139.4:c.23C>T NP_071422.1:p.Ala8Val NC_000020.11:3663376:G:A p.(Ala8Val) NC_000020.11:3663376:G:A p.(Ala8Val) NC_000020.11:3663376:G:A Identity +NM_001199022.3:c.1639G>A NP_001185951.2:p.Val547Ile NC_000016.10:19537307:G:A p.(Val547Ile) NC_000016.10:19537307:G:A p.(Val547Ile) NC_000016.10:19537307:G:A Identity +NM_001004311.3:c.94G>A NP_001004311.2:p.Glu32Lys NC_000002.12:70790544:C:T p.(Glu32Lys) NC_000002.12:70790544:C:T p.(Glu32Lys) NC_000002.12:70790544:C:T Identity +NM_001128922.2:c.341C>T NP_001122394.1:p.Ala114Val NC_000011.10:76661251:G:A p.(Ala114Val) NC_000011.10:76661251:G:A p.(Ala114Val) NC_000011.10:76661251:G:A Identity +NM_144666.3:c.6665G>A NP_653267.2:p.Arg2222His NC_000011.10:6547603:G:A p.(Arg2222His) NC_000011.10:6547603:G:A p.(Arg2222His) NC_000011.10:6547603:G:A Identity +NM_001308347.2:c.274A>G NP_001295276.1:p.Asn92Asp NC_000016.10:57436729:T:C p.(Asn92Asp) NC_000016.10:57436729:T:C p.(Asn92Asp) NC_000016.10:57436729:T:C Identity +NM_001113182.3:c.928G>A NP_001106653.1:p.Ala310Thr NC_000006.12:32976663:G:A p.(Ala310Thr) NC_000006.12:32976663:G:A p.(Ala310Thr) NC_000006.12:32976663:G:A Identity +NM_001303270.2:c.1445G>A NP_001290199.1:p.Arg482His NC_000017.11:7739760:G:A p.(Arg482His) NC_000017.11:7739760:G:A p.(Arg482His) NC_000017.11:7739760:G:A Identity +NM_001282582.2:c.1144G>A NP_001269511.1:p.Gly382Arg NC_000001.11:1354193:C:T p.(Gly382Arg) NC_000001.11:1354193:C:T p.(Gly382Arg) NC_000001.11:1354193:C:T Identity +NM_001105562.3:c.2624A>G NP_001099032.1:p.Lys875Arg NC_000001.11:10149215:A:G p.(Lys875Arg) NC_000001.11:10149215:A:G p.(Lys875Arg) NC_000001.11:10149215:A:G Identity +NM_001080779.2:c.2180A>G NP_001074248.1:p.Glu727Gly NC_000017.11:1471102:T:C p.(Glu727Gly) NC_000017.11:1471102:T:C p.(Glu727Gly) NC_000017.11:1471102:T:C Identity +NM_001081552.3:c.163C>T NP_001075021.2:p.Arg55Cys NC_000008.11:7848791:C:T p.(Arg55Cys) NC_000008.11:7848791:C:T p.(Arg55Cys) NC_000008.11:7848791:C:T Identity +NM_001083900.1:c.10372G>A NP_001077369.1:p.Ala3458Thr NC_000012.12:123916459:G:A ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001284260.2:c.1076C>T NP_001271189.1:p.Ala359Val NC_000007.14:151381700:G:A p.(Ala359Val) NC_000007.14:151381700:G:A p.(Ala359Val) NC_000007.14:151381700:G:A Identity +NM_001414688.1:c.1477C>G NP_001401617.1:p.Gln493Glu NC_000012.12:132152344:C:G p.(Gln493Glu) NC_000012.12:132152344:C:G p.(Gln493Glu) NC_000012.12:132152344:C:G Identity +NM_001252617.2:c.454G>A NP_001239546.1:p.Ala152Thr NC_000009.12:135524879:G:A p.(Ala152Thr) NC_000009.12:135524879:G:A p.(Ala152Thr) NC_000009.12:135524879:G:A Identity +NM_001308350.2:c.1846G>A NP_001295279.1:p.Val616Ile NC_000003.12:113611132:G:A p.(Val616Ile) NC_000003.12:113611132:G:A p.(Val616Ile) NC_000003.12:113611132:G:A Identity +NM_001098623.2:c.481G>A NP_001092093.2:p.Glu161Lys NC_000001.11:228212263:G:A p.(Glu161Lys) NC_000001.11:228212263:G:A p.(Glu161Lys) NC_000001.11:228212263:G:A Identity +NM_001098797.2:c.19C>T NP_001092267.1:p.Pro7Ser NC_000020.11:43914909:C:T p.(Pro7Ser) NC_000020.11:43914909:C:T p.(Pro7Ser) NC_000020.11:43914909:C:T Identity +NM_144992.5:c.277G>T NP_659429.4:p.Gly93Cys NC_000002.12:98115731:G:T p.(Gly93Cys) NC_000002.12:98115731:G:T p.(Gly93Cys) NC_000002.12:98115731:G:T Identity +NM_145053.5:c.152C>T NP_659490.4:p.Ser51Leu NC_000011.10:5516289:G:A p.(Ser51Leu) NC_000011.10:5516289:G:A p.(Ser51Leu) NC_000011.10:5516289:G:A Identity +NM_003872.3:c.1799C>T NP_003863.2:p.Thr600Met NC_000002.12:205749736:C:T p.(Thr600Met) NC_000002.12:205749736:C:T p.(Thr600Met) NC_000002.12:205749736:C:T Identity +NM_019010.3:c.1234G>T NP_061883.1:p.Val412Phe NC_000017.11:40876401:C:A p.(Val412Phe) NC_000017.11:40876401:C:A p.(Val412Phe) NC_000017.11:40876401:C:A Identity +NM_001303012.2:c.1618G>A NP_001289941.1:p.Gly540Arg NC_000001.11:2494894:G:A p.(Gly540Arg) NC_000001.11:2494894:G:A p.(Gly540Arg) NC_000001.11:2494894:G:A Identity +NM_006133.3:c.2318G>A NP_006124.1:p.Arg773Gln NC_000011.10:61743677:G:A p.(Arg773Gln) NC_000011.10:61743677:G:A p.(Arg773Gln) NC_000011.10:61743677:G:A Identity +NM_001308155.2:c.1676A>G NP_001295084.1:p.Gln559Arg NC_000003.12:168024958:T:C p.(Gln559Arg) NC_000003.12:168024958:T:C p.(Gln559Arg) NC_000003.12:168024958:T:C Identity +NM_001272075.2:c.458G>A NP_001259004.1:p.Arg153His NC_000016.10:84744926:G:A p.(Arg153His) NC_000016.10:84744926:G:A p.(Arg153His) NC_000016.10:84744926:G:A Identity +NM_001101421.4:c.120C>A NP_001094891.4:p.Ser40Arg NC_000012.12:109388789:C:A p.(Ser40Arg) NC_000012.12:109388789:C:A p.(Ser40Arg) NC_000012.12:109388789:C:A Identity +NM_005913.3:c.512C>T NP_005904.1:p.Thr171Met NC_000018.10:13826276:C:T p.(Thr171Met) NC_000018.10:13826276:C:T p.(Thr171Met) NC_000018.10:13826276:C:T Identity +NM_182536.3:c.329T>A NP_872342.2:p.Met110Lys NC_000002.12:68946446:A:T p.(Met110Lys) NC_000002.12:68946446:A:T p.(Met110Lys) NC_000002.12:68946446:A:T Identity +NM_001195200.2:c.409C>T NP_001182129.1:p.Arg137Cys NC_000009.12:35660645:C:T p.(Arg137Cys) NC_000009.12:35660645:C:T p.(Arg137Cys) NC_000009.12:35660645:C:T Identity +NM_173511.4:c.677C>T NP_775782.2:p.Ala226Val NC_000002.12:202695955:C:T p.(Ala226Val) NC_000002.12:202695955:C:T p.(Ala226Val) NC_000002.12:202695955:C:T Identity +NM_001347886.2:c.2290C>T NP_001334815.1:p.Arg764Cys NC_000016.10:21098707:G:A p.(Arg764Cys) NC_000016.10:21098707:G:A p.(Arg764Cys) NC_000016.10:21098707:G:A Identity +NM_024766.5:c.314A>G NP_079042.1:p.His105Arg NC_000002.12:44390242:A:G p.(His105Arg) NC_000002.12:44390242:A:G p.(His105Arg) NC_000002.12:44390242:A:G Identity +NM_005762.3:c.130G>C NP_005753.1:p.Ala44Pro NC_000019.10:58544886:G:C p.(Ala44Pro) NC_000019.10:58544886:G:C p.(Ala44Pro) NC_000019.10:58544886:G:C Identity +NM_001085363.1:c.1553C>G NP_001078832.1:p.Pro518Arg NC_000019.10:1555965:G:C ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found +NM_001007467.3:c.704G>C NP_001007468.1:p.Arg235Pro NC_000022.11:31561330:G:C p.(Arg235Pro) NC_000022.11:31561330:G:C p.(Arg235Pro) NC_000022.11:31561330:G:C Identity +NM_001011718.2:c.875G>A NP_001011718.1:p.Arg292Gln NC_000020.11:31996591:G:A p.(Arg292Gln) NC_000020.11:31996591:G:A p.(Arg292Gln) NC_000020.11:31996591:G:A Identity +NM_139055.4:c.1963A>C NP_620686.1:p.Ile655Leu NC_000011.10:130471267:A:C p.(Ile655Leu) NC_000011.10:130471267:A:C p.(Ile655Leu) NC_000011.10:130471267:A:C Identity +NM_001130917.3:c.565C>T NP_001124389.2:p.Arg189Cys NC_000019.10:54574942:C:T p.(Arg189Cys) NC_000019.10:54574942:C:T p.(Arg189Cys) NC_000019.10:54574942:C:T Identity +NM_001198815.1:c.1162G>A NP_001185744.1:p.Val388Ile NC_000006.12:31026592:G:A p.(Val388Ile) NC_000006.12:31026592:G:A p.(Val388Ile) NC_000006.12:31026592:G:A Identity +NM_001198956.2:c.1517A>G NP_001185885.1:p.His506Arg NC_000001.11:168015918:A:G p.(His506Arg) NC_000001.11:168015918:A:G p.(His506Arg) NC_000001.11:168015918:A:G Identity +NM_001308363.2:c.1621A>G NP_001295292.1:p.Ser541Gly NC_000019.10:17727082:A:G p.(Ser541Gly) NC_000019.10:17727082:A:G p.(Ser541Gly) NC_000019.10:17727082:A:G Identity +NM_014598.4:c.1292C>T NP_055413.2:p.Ser431Phe NC_000017.11:38366325:C:T p.(Ser431Phe) NC_000017.11:38366325:C:T p.(Ser431Phe) NC_000017.11:38366325:C:T Identity +NM_001308195.2:c.2087T>C NP_001295124.1:p.Val696Ala NC_000005.10:176324672:T:C p.(Val696Ala) NC_000005.10:176324672:T:C p.(Val696Ala) NC_000005.10:176324672:T:C Identity +NM_001012753.2:c.1139T>C NP_001012771.1:p.Leu380Ser NC_000019.10:11979053:T:C p.(Leu380Ser) NC_000019.10:11979053:T:C p.(Leu380Ser) NC_000019.10:11979053:T:C Identity +NM_138702.1:c.323C>T NP_619647.1:p.Pro108Leu NC_000023.11:141879238:C:T p.(Pro108Leu) NC_000023.11:141879238:C:T p.(Pro108Leu) NC_000023.11:141879238:C:T Identity +NM_024667.3:c.245T>C NP_078943.1:p.Val82Ala NC_000012.12:122870927:A:G p.(Val82Ala) NC_000012.12:122870927:A:G p.(Val82Ala) NC_000012.12:122870927:A:G Identity +NM_014811.5:c.3322G>C NP_055626.3:p.Gly1108Arg NC_000009.12:135487831:G:C p.(Gly1108Arg) NC_000009.12:135487831:G:C p.(Gly1108Arg) NC_000009.12:135487831:G:C Identity +NM_003884.5:c.80C>G NP_003875.3:p.Pro27Arg NC_000003.12:20040556:C:G p.(Pro27Arg) NC_000003.12:20040556:C:G p.(Pro27Arg) NC_000003.12:20040556:C:G Identity +NM_001243650.2:c.102G>C NP_001230579.1:p.Trp34Cys NC_000016.10:67685613:C:G p.(Trp34Cys) NC_000016.10:67685613:C:G p.(Trp34Cys) NC_000016.10:67685613:C:G Identity +NM_014282.4:c.580G>A NP_055097.2:p.Gly194Ser NC_000009.12:96465403:G:A p.(Gly194Ser) NC_000009.12:96465403:G:A p.(Gly194Ser) NC_000009.12:96465403:G:A Identity +NM_001142550.2:c.247C>T NP_001136022.1:p.Arg83Cys NC_000001.11:109013920:G:A p.(Arg83Cys) NC_000001.11:109013920:G:A p.(Arg83Cys) NC_000001.11:109013920:G:A Identity +NM_001077665.3:c.875G>A NP_001071133.2:p.Arg292Gln NC_000010.11:50008999:G:A p.(Arg292Gln) NC_000010.11:50008999:G:A p.(Arg292Gln) NC_000010.11:50008999:G:A Identity +NM_001320395.1:c.30G>C NP_001307324.1:p.Lys10Asn NC_000003.12:101574244:G:C p.(Lys10Asn) NC_000003.12:101574244:G:C p.(Lys10Asn) NC_000003.12:101574244:G:C Identity +NM_001010927.3:c.1364G>A NP_001010927.2:p.Ser455Asn NC_000006.12:155256603:G:A p.(Ser455Asn) NC_000006.12:155256603:G:A p.(Ser455Asn) NC_000006.12:155256603:G:A Identity +NM_001032394.3:c.1441G>A NP_001027566.2:p.Asp481Asn NC_000006.12:142397712:G:A p.(Asp481Asn) NC_000006.12:142397712:G:A p.(Asp481Asn) NC_000006.12:142397712:G:A Identity +NM_001199938.2:c.1072C>T NP_001186867.1:p.Arg358Cys NC_000010.11:22208911:G:A p.(Arg358Cys) NC_000010.11:22208911:G:A p.(Arg358Cys) NC_000010.11:22208911:G:A Identity +NM_001142546.4:c.3016C>T NP_001136018.1:p.Arg1006Trp NC_000001.11:23091245:G:A p.(Arg1006Trp) NC_000001.11:23091245:G:A p.(Arg1006Trp) NC_000001.11:23091245:G:A Identity +NM_001363543.2:c.280C>T NP_001350472.1:p.Leu94Phe NC_000011.10:101961911:C:T p.(Leu94Phe) NC_000011.10:101961911:C:T p.(Leu94Phe) NC_000011.10:101961911:C:T Identity +NM_001013620.4:c.1279C>T NP_001013642.2:p.Leu427Phe NC_000012.12:38321069:C:T p.(Leu427Phe) NC_000012.12:38321069:C:T p.(Leu427Phe) NC_000012.12:38321069:C:T Identity +NM_018968.4:c.644G>A NP_061841.2:p.Arg215His NC_000002.12:1209154:G:A p.(Arg215His) NC_000002.12:1209154:G:A p.(Arg215His) NC_000002.12:1209154:G:A Identity +NM_001146160.1:c.605A>G NP_001139632.1:p.Glu202Gly NC_000008.11:124493877:T:C p.(Glu202Gly) NC_000008.11:124493877:T:C p.(Glu202Gly) NC_000008.11:124493877:T:C Identity +NM_001378205.1:c.3298T>C NP_001365134.1:p.Phe1100Leu NC_000018.10:8798195:T:C p.(Phe1100Leu) NC_000018.10:8798195:T:C p.(Phe1100Leu) NC_000018.10:8798195:T:C Identity +NM_003736.4:c.1961C>A NP_003727.1:p.Ala654Asp NC_000005.10:141389844:C:A p.(Ala654Asp) NC_000005.10:141389844:C:A p.(Ala654Asp) NC_000005.10:141389844:C:A Identity +NM_001303029.2:c.1802C>T NP_001289958.1:p.Ala601Val NC_000011.10:403096:C:T p.(Ala601Val) NC_000011.10:403096:C:T p.(Ala601Val) NC_000011.10:403096:C:T Identity +NM_001376262.1:c.143C>T NP_001363191.1:p.Ala48Val NC_000011.10:64713556:G:A p.(Ala48Val) NC_000011.10:64713556:G:A p.(Ala48Val) NC_000011.10:64713556:G:A Identity +NM_001015508.3:c.22G>A NP_001015508.1:p.Gly8Arg NC_000008.11:31032760:C:T p.(Gly8Arg) NC_000008.11:31032760:C:T p.(Gly8Arg) NC_000008.11:31032760:C:T Identity +NM_001287742.2:c.1100G>A NP_001274671.1:p.Arg367Gln NC_000008.11:11838454:G:A p.(Arg367Gln) NC_000008.11:11838454:G:A p.(Arg367Gln) NC_000008.11:11838454:G:A Identity +NM_001318043.2:c.296C>T NP_001304972.1:p.Thr99Met NC_000020.11:18596166:C:T p.(Thr99Met) NC_000020.11:18596166:C:T p.(Thr99Met) NC_000020.11:18596166:C:T Identity +NM_001278273.2:c.775A>C NP_001265202.1:p.Lys259Gln NC_000007.14:105145287:T:G p.(Lys259Gln) NC_000007.14:105145287:T:G p.(Lys259Gln) NC_000007.14:105145287:T:G Identity +NM_001261467.2:c.251A>C NP_001248396.1:p.Asp84Ala NC_000017.11:30179201:A:C p.(Asp84Ala) NC_000017.11:30179201:A:C p.(Asp84Ala) NC_000017.11:30179201:A:C Identity +NM_032865.6:c.73A>G NP_116254.4:p.Arg25Gly NC_000017.11:40496352:T:C p.(Arg25Gly) NC_000017.11:40496352:T:C p.(Arg25Gly) NC_000017.11:40496352:T:C Identity +NM_152701.5:c.10531C>G NP_689914.3:p.Gln3511Glu NC_000007.14:48352329:C:G p.(Gln3511Glu) NC_000007.14:48352329:C:G p.(Gln3511Glu) NC_000007.14:48352329:C:G Identity +NM_020825.4:c.302C>T NP_065876.3:p.Ala101Val NC_000016.10:1614940:C:T p.(Ala101Val) NC_000016.10:1614940:C:T p.(Ala101Val) NC_000016.10:1614940:C:T Identity +NM_001146210.4:c.666C>G NP_001139682.2:p.Asp222Glu NC_000007.14:102352068:G:C p.(Asp222Glu) NC_000007.14:102352068:G:C p.(Asp222Glu) NC_000007.14:102352068:G:C Identity +NM_001329434.2:c.4348C>T NP_001316363.2:p.Arg1450Cys NC_000007.14:135643220:C:T p.(Arg1450Cys) NC_000007.14:135643220:C:T p.(Arg1450Cys) NC_000007.14:135643220:C:T Identity +NM_001365891.2:c.1234A>G NP_001352820.1:p.Ile412Val NC_000010.11:114204829:A:G p.(Ile412Val) NC_000010.11:114204829:A:G p.(Ile412Val) NC_000010.11:114204829:A:G Identity +NM_002016.2:c.4570C>T NP_002007.1:p.Pro1524Ser NC_000001.11:152310315:G:A p.(Pro1524Ser) NC_000001.11:152310315:G:A p.(Pro1524Ser) NC_000001.11:152310315:G:A Identity +NM_013278.4:c.274C>T NP_037410.1:p.Arg92Trp NC_000016.10:88639247:C:T p.(Arg92Trp) NC_000016.10:88639247:C:T p.(Arg92Trp) NC_000016.10:88639247:C:T Identity +NM_001522.3:c.3131G>C NP_001513.2:p.Arg1044Pro NC_000023.11:109382136:C:G p.(Arg1044Pro) NC_000023.11:109382136:C:G p.(Arg1044Pro) NC_000023.11:109382136:C:G Identity +NM_152468.5:c.2056C>T NP_689681.2:p.His686Tyr NC_000017.11:78140986:C:T p.(His686Tyr) NC_000017.11:78140986:C:T p.(His686Tyr) NC_000017.11:78140986:C:T Identity +NM_001037735.4:c.1426G>A NP_001032824.2:p.Gly476Ser NC_000023.11:48059015:C:T p.(Gly476Ser) NC_000023.11:48059015:C:T p.(Gly476Ser) NC_000023.11:48059015:C:T Identity +NM_001002029.4:c.2502C>G NP_001002029.3:p.His834Gln NC_000006.12:32027031:C:G p.(His834Gln) NC_000006.12:32027031:C:G p.(His834Gln) NC_000006.12:32027031:C:G Identity +NM_006796.3:c.1342G>A NP_006787.2:p.Val448Ile NC_000018.10:12351389:C:T p.(Val448Ile) NC_000018.10:12351389:C:T p.(Val448Ile) NC_000018.10:12351389:C:T Identity +NM_006849.4:c.371G>A NP_006840.2:p.Arg124His NC_000016.10:284557:G:A p.(Arg124His) NC_000016.10:284557:G:A p.(Arg124His) NC_000016.10:284557:G:A Identity +NM_001080836.3:c.8G>A NP_001074305.1:p.Ser3Asn NC_000010.11:14966475:G:A p.(Ser3Asn) NC_000010.11:14966475:G:A p.(Ser3Asn) NC_000010.11:14966475:G:A Identity +NM_006742.3:c.190G>A NP_006733.1:p.Gly64Ser NC_000016.10:67908938:G:A p.(Gly64Ser) NC_000016.10:67908938:G:A p.(Gly64Ser) NC_000016.10:67908938:G:A Identity +NM_001308169.2:c.1261G>A NP_001295098.1:p.Val421Ile NC_000016.10:20480909:G:A p.(Val421Ile) NC_000016.10:20480909:G:A p.(Val421Ile) NC_000016.10:20480909:G:A Identity +NM_018933.4:c.216C>G NP_061756.1:p.Asn72Lys NC_000005.10:141214338:C:G p.(Asn72Lys) NC_000005.10:141214338:C:G p.(Asn72Lys) NC_000005.10:141214338:C:G Identity +NM_001289975.1:c.3884T>C NP_001276904.1:p.Ile1295Thr NC_000002.12:159382571:A:G p.(Ile1295Thr) NC_000002.12:159382571:A:G p.(Ile1295Thr) NC_000002.12:159382571:A:G Identity +NM_001242680.2:c.2470T>C NP_001229609.1:p.Cys824Arg NC_000019.10:22315886:T:C p.(Cys824Arg) NC_000019.10:22315886:T:C p.(Cys824Arg) NC_000019.10:22315886:T:C Identity +NM_001037335.2:c.2054C>T NP_001032412.2:p.Ser685Leu NC_000020.11:63567303:G:A p.(Ser685Leu) NC_000020.11:63567303:G:A p.(Ser685Leu) NC_000020.11:63567303:G:A Identity +NM_001141968.2:c.421T>G NP_001135440.1:p.Phe141Val NC_000013.11:19451212:A:C p.(Phe141Val) NC_000013.11:19451212:A:C p.(Phe141Val) NC_000013.11:19451212:A:C Identity +NM_001384708.1:c.26T>C NP_001371637.1:p.Leu9Pro NC_000019.10:51630309:A:G p.(Leu9Pro) NC_000019.10:51630309:A:G p.(Leu9Pro) NC_000019.10:51630309:A:G Identity +NM_152228.3:c.455T>C NP_689414.2:p.Val152Ala NC_000001.11:1331900:T:C p.(Val152Ala) NC_000001.11:1331900:T:C p.(Val152Ala) NC_000001.11:1331900:T:C Identity +NM_024091.4:c.712C>A NP_076996.2:p.Leu238Ile NC_000005.10:7867371:G:T p.(Leu238Ile) NC_000005.10:7867371:G:T p.(Leu238Ile) NC_000005.10:7867371:G:T Identity +NM_018465.4:c.37A>G NP_060935.2:p.Met13Val NC_000009.12:5431940:T:C p.(Met13Val) NC_000009.12:5431940:T:C p.(Met13Val) NC_000009.12:5431940:T:C Identity +NM_007017.3:c.367C>A NP_008948.1:p.Pro123Thr NC_000005.10:157651711:G:T p.(Pro123Thr) NC_000005.10:157651711:G:T p.(Pro123Thr) NC_000005.10:157651711:G:T Identity +NM_001447.3:c.5260A>G NP_001438.1:p.Asn1754Asp NC_000005.10:151545866:T:C p.(Asn1754Asp) NC_000005.10:151545866:T:C p.(Asn1754Asp) NC_000005.10:151545866:T:C Identity +NM_020859.4:c.1193G>A NP_065910.3:p.Arg398His NC_000004.12:76739365:G:A p.(Arg398His) NC_000004.12:76739365:G:A p.(Arg398His) NC_000004.12:76739365:G:A Identity +NM_001127395.5:c.250G>C NP_001120867.1:p.Ala84Pro NC_000002.12:207621814:C:G p.(Ala84Pro) NC_000002.12:207621814:C:G p.(Ala84Pro) NC_000002.12:207621814:C:G Identity +NM_006437.4:c.1405G>A NP_006428.2:p.Val469Ile NC_000013.11:24484695:C:T p.(Val469Ile) NC_000013.11:24484695:C:T p.(Val469Ile) NC_000013.11:24484695:C:T Identity +NM_145249.3:c.178G>A NP_660292.1:p.Gly60Ser NC_000014.9:94101929:G:A p.(Gly60Ser) NC_000014.9:94101929:G:A p.(Gly60Ser) NC_000014.9:94101929:G:A Identity +NM_014004.3:c.1580A>G NP_054723.1:p.Asp527Gly NC_000005.10:141394392:A:G p.(Asp527Gly) NC_000005.10:141394392:A:G p.(Asp527Gly) NC_000005.10:141394392:A:G Identity +NM_001367484.1:c.926T>C NP_001354413.1:p.Leu309Ser NC_000001.11:53594501:A:G p.(Leu309Ser) NC_000001.11:53594501:A:G p.(Leu309Ser) NC_000001.11:53594501:A:G Identity +NM_001199692.3:c.910C>T NP_001186621.1:p.Arg304Trp NC_000007.14:151066936:C:T p.(Arg304Trp) NC_000007.14:151066936:C:T p.(Arg304Trp) NC_000007.14:151066936:C:T Identity +NM_177531.6:c.10655A>G NP_803875.2:p.Asn3552Ser NC_000008.11:109498516:A:G p.(Asn3552Ser) NC_000008.11:109498516:A:G p.(Asn3552Ser) NC_000008.11:109498516:A:G Identity +NM_001267827.2:c.472G>A NP_001254756.1:p.Asp158Asn NC_000014.9:102326515:G:A p.(Asp158Asn) NC_000014.9:102326515:G:A p.(Asp158Asn) NC_000014.9:102326515:G:A Identity +NM_015174.2:c.1633C>T NP_055989.1:p.Arg545Trp NC_000019.10:3820288:G:A p.(Arg545Trp) NC_000019.10:3820288:G:A p.(Arg545Trp) NC_000019.10:3820288:G:A Identity +NM_001039467.2:c.498C>G NP_001034556.1:p.Asn166Lys NC_000020.11:64074008:G:C p.(Asn166Lys) NC_000020.11:64074008:G:C p.(Asn166Lys) NC_000020.11:64074008:G:C Identity +NM_006492.3:c.346G>C NP_006483.2:p.Asp116His NC_000001.11:110064834:C:G p.(Asp116His) NC_000001.11:110064834:C:G p.(Asp116His) NC_000001.11:110064834:C:G Identity +NM_022042.4:c.443C>T NP_071325.2:p.Pro148Leu NC_000004.12:991260:G:A p.(Pro148Leu) NC_000004.12:991260:G:A p.(Pro148Leu) NC_000004.12:991260:G:A Identity +NM_001284395.2:c.736A>G NP_001271324.1:p.Lys246Glu NC_000015.10:89715074:A:G p.(Lys246Glu) NC_000015.10:89715074:A:G p.(Lys246Glu) NC_000015.10:89715074:A:G Identity +NM_004645.3:c.1055G>A NP_004636.1:p.Arg352His NC_000017.11:56950186:C:T p.(Arg352His) NC_000017.11:56950186:C:T p.(Arg352His) NC_000017.11:56950186:C:T Identity +NM_001261824.1:c.38C>G NP_001248753.1:p.Pro13Arg NC_000021.9:39183347:G:C p.(Pro13Arg) NC_000021.9:39183347:G:C p.(Pro13Arg) NC_000021.9:39183347:G:C Identity +NM_001143757.2:c.817G>A NP_001137229.1:p.Val273Met NC_000010.11:132348246:G:A p.(Val273Met) NC_000010.11:132348246:G:A p.(Val273Met) NC_000010.11:132348246:G:A Identity +NM_001323342.2:c.2623G>A NP_001310271.1:p.Asp875Asn NC_000001.11:246885529:C:T p.(Asp875Asn) NC_000001.11:246885529:C:T p.(Asp875Asn) NC_000001.11:246885529:C:T Identity +NM_004638.4:c.4534C>A NP_004629.3:p.Pro1512Thr NC_000006.12:31633592:C:A p.(Pro1512Thr) NC_000006.12:31633592:C:A p.(Pro1512Thr) NC_000006.12:31633592:C:A Identity +NM_001386094.1:c.1990A>T NP_001373023.1:p.Met664Leu NC_000015.10:86271620:A:T p.(Met664Leu) NC_000015.10:86271620:A:T p.(Met664Leu) NC_000015.10:86271620:A:T Identity +NM_001199417.2:c.1825C>T NP_001186346.1:p.Arg609Cys NC_000017.11:38469543:C:T p.(Arg609Cys) NC_000017.11:38469543:C:T p.(Arg609Cys) NC_000017.11:38469543:C:T Identity +NM_001286132.2:c.355A>G NP_001273061.1:p.Met119Val NC_000006.12:4999817:T:C p.(Met119Val) NC_000006.12:4999817:T:C p.(Met119Val) NC_000006.12:4999817:T:C Identity +NM_001161476.3:c.421A>G NP_001154948.1:p.Arg141Gly NC_000014.9:100381344:A:G p.(Arg141Gly) NC_000014.9:100381344:A:G p.(Arg141Gly) NC_000014.9:100381344:A:G Identity +NM_020410.3:c.248C>T NP_065143.2:p.Ala83Val NC_000019.10:19663418:G:A p.(Ala83Val) NC_000019.10:19663418:G:A p.(Ala83Val) NC_000019.10:19663418:G:A Identity +NM_016426.7:c.2128G>T NP_057510.5:p.Val710Leu NC_000022.11:46329558:G:T p.(Val710Leu) NC_000022.11:46329558:G:T p.(Val710Leu) NC_000022.11:46329558:G:T Identity +NM_001077238.2:c.802G>A NP_001070706.1:p.Ala268Thr NC_000019.10:2340134:G:A p.(Ala268Thr) NC_000019.10:2340134:G:A p.(Ala268Thr) NC_000019.10:2340134:G:A Identity +NM_031909.3:c.691T>G NP_114115.2:p.Phe231Val NC_000011.10:47590119:A:C p.(Phe231Val) NC_000011.10:47590119:A:C p.(Phe231Val) NC_000011.10:47590119:A:C Identity +NM_001081552.3:c.236G>A NP_001075021.2:p.Arg79Lys NC_000008.11:7860666:G:A p.(Arg79Lys) NC_000008.11:7860666:G:A p.(Arg79Lys) NC_000008.11:7860666:G:A Identity +NM_001004753.2:c.695C>T NP_001004753.2:p.Ser232Phe NC_000011.10:4822115:C:T p.(Ser232Phe) NC_000011.10:4822115:C:T p.(Ser232Phe) NC_000011.10:4822115:C:T Identity +NM_001161841.2:c.1492G>A NP_001155313.1:p.Gly498Arg NC_000020.11:47672281:C:T p.(Gly498Arg) NC_000020.11:47672281:C:T p.(Gly498Arg) NC_000020.11:47672281:C:T Identity +NM_015380.5:c.340A>G NP_056195.3:p.Asn114Asp NC_000022.11:43972252:A:G p.(Asn114Asp) NC_000022.11:43972252:A:G p.(Asn114Asp) NC_000022.11:43972252:A:G Identity +NM_001286206.2:c.2684A>G NP_001273135.1:p.Lys895Arg NC_000006.12:84155379:T:C p.(Lys895Arg) NC_000006.12:84155379:T:C p.(Lys895Arg) NC_000006.12:84155379:T:C Identity +NM_001387280.1:c.724G>T NP_001374209.1:p.Gly242Cys NC_000001.11:159307881:G:T p.(Gly242Cys) NC_000001.11:159307881:G:T p.(Gly242Cys) NC_000001.11:159307881:G:T Identity +NM_001134707.2:c.1298C>T NP_001128179.1:p.Pro433Leu NC_000009.12:133712648:G:A p.(Pro433Leu) NC_000009.12:133712648:G:A p.(Pro433Leu) NC_000009.12:133712648:G:A Identity +NM_001385028.1:c.3064A>G NP_001371957.1:p.Lys1022Glu NC_000015.10:65898925:T:C p.(Lys1022Glu) NC_000015.10:65898925:T:C p.(Lys1022Glu) NC_000015.10:65898925:T:C Identity +NM_020733.2:c.268G>A NP_065784.1:p.Ala90Thr NC_000003.12:125055622:C:T p.(Ala90Thr) NC_000003.12:125055622:C:T p.(Ala90Thr) NC_000003.12:125055622:C:T Identity +NM_001199943.2:c.850G>A NP_001186872.1:p.Val284Ile NC_000019.10:4361712:C:T p.(Val284Ile) NC_000019.10:4361712:C:T p.(Val284Ile) NC_000019.10:4361712:C:T Identity +NM_001286456.2:c.7A>G NP_001273385.1:p.Ile3Val NC_000006.12:3456552:T:C p.(Ile3Val) NC_000006.12:3456552:T:C p.(Ile3Val) NC_000006.12:3456552:T:C Identity +NM_015550.4:c.1523C>T NP_056365.1:p.Ala508Val NC_000007.14:24834708:G:A p.(Ala508Val) NC_000007.14:24834708:G:A p.(Ala508Val) NC_000007.14:24834708:G:A Identity +NM_001042454.3:c.526G>C NP_001035919.1:p.Ala176Pro NC_000016.10:31474568:G:C p.(Ala176Pro) NC_000016.10:31474568:G:C p.(Ala176Pro) NC_000016.10:31474568:G:C Identity +NM_001322176.2:c.1270G>A NP_001309105.1:p.Ala424Thr NC_000003.12:57557648:G:A p.(Ala424Thr) NC_000003.12:57557648:G:A p.(Ala424Thr) NC_000003.12:57557648:G:A Identity +NM_020772.3:c.1319C>G NP_065823.1:p.Ala440Gly NC_000017.11:29286674:G:C p.(Ala440Gly) NC_000017.11:29286674:G:C p.(Ala440Gly) NC_000017.11:29286674:G:C Identity +NM_001122779.2:c.446A>C NP_001116251.1:p.Tyr149Ser NC_000002.12:224401322:T:G p.(Tyr149Ser) NC_000002.12:224401322:T:G p.(Tyr149Ser) NC_000002.12:224401322:T:G Identity +NM_001286581.2:c.1781G>A NP_001273510.1:p.Arg594His NC_000011.10:607236:G:A p.(Arg594His) NC_000011.10:607236:G:A p.(Arg594His) NC_000011.10:607236:G:A Identity +NM_007205.3:c.445C>T NP_009136.1:p.Pro149Ser NC_000023.11:153444985:G:A ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007205.3 not found +NM_017433.5:c.1145A>G NP_059129.3:p.Gln382Arg NC_000010.11:26068858:A:G p.(Gln382Arg) NC_000010.11:26068858:A:G p.(Gln382Arg) NC_000010.11:26068858:A:G Identity +NM_032553.3:c.177A>G NP_115942.1:p.Ile59Met NC_000023.11:79171183:A:G p.(Ile59Met) NC_000023.11:79171183:A:G p.(Ile59Met) NC_000023.11:79171183:A:G Identity +NM_001164595.2:c.1864G>A NP_001158067.1:p.Glu622Lys NC_000012.12:41572642:G:A p.(Glu622Lys) NC_000012.12:41572642:G:A p.(Glu622Lys) NC_000012.12:41572642:G:A Identity +NM_001271022.2:c.1426G>A NP_001257951.1:p.Val476Met NC_000003.12:48463805:G:A p.(Val476Met) NC_000003.12:48463805:G:A p.(Val476Met) NC_000003.12:48463805:G:A Identity +NM_001317906.1:c.1738G>A NP_001304835.1:p.Glu580Lys NC_000008.11:25503483:G:A p.(Glu580Lys) NC_000008.11:25503483:G:A p.(Glu580Lys) NC_000008.11:25503483:G:A Identity +NM_178352.3:c.320G>A NP_848129.1:p.Ser107Asn NC_000001.11:152798113:G:A p.(Ser107Asn) NC_000001.11:152798113:G:A p.(Ser107Asn) NC_000001.11:152798113:G:A Identity +NM_001204519.2:c.1054G>A NP_001191448.1:p.Glu352Lys NC_000017.11:3681902:C:T p.(Glu352Lys) NC_000017.11:3681902:C:T p.(Glu352Lys) NC_000017.11:3681902:C:T Identity +NM_015696.5:c.160G>T NP_056511.2:p.Ala54Ser NC_000001.11:52606704:G:T p.(Ala54Ser) NC_000001.11:52606704:G:T p.(Ala54Ser) NC_000001.11:52606704:G:T Identity +NM_032451.2:c.262G>A NP_115827.1:p.Val88Met NC_000016.10:89845338:G:A p.(Val88Met) NC_000016.10:89845338:G:A p.(Val88Met) NC_000016.10:89845338:G:A Identity +NM_001014811.2:c.1660G>A NP_001014811.1:p.Asp554Asn NC_000011.10:86441433:C:T p.(Asp554Asn) NC_000011.10:86441433:C:T p.(Asp554Asn) NC_000011.10:86441433:C:T Identity +NM_001308210.2:c.200C>T NP_001295139.1:p.Ala67Val NC_000018.10:75285606:C:T p.(Ala67Val) NC_000018.10:75285606:C:T p.(Ala67Val) NC_000018.10:75285606:C:T Identity +NM_001282349.3:c.764C>T NP_001269278.1:p.Pro255Leu NC_000019.10:54095762:G:A p.(Pro255Leu) NC_000019.10:54095762:G:A p.(Pro255Leu) NC_000019.10:54095762:G:A Identity +NM_001005201.1:c.19G>A NP_001005201.1:p.Asp7Asn NC_000011.10:56122390:G:A p.(Asp7Asn) NC_000011.10:56122390:G:A p.(Asp7Asn) NC_000011.10:56122390:G:A Identity +NM_001331100.2:c.1016C>T NP_001318029.1:p.Pro339Leu NC_000009.12:38603193:G:A p.(Pro339Leu) NC_000009.12:38603193:G:A p.(Pro339Leu) NC_000009.12:38603193:G:A Identity +NM_032130.3:c.2029A>G NP_115506.1:p.Ser677Gly NC_000012.12:49599610:T:C p.(Ser677Gly) NC_000012.12:49599610:T:C p.(Ser677Gly) NC_000012.12:49599610:T:C Identity +NM_152601.4:c.1619C>A NP_689814.1:p.Ala540Glu NC_000019.10:12464302:G:T p.(Ala540Glu) NC_000019.10:12464302:G:T p.(Ala540Glu) NC_000019.10:12464302:G:T Identity +NM_001178002.3:c.599T>C NP_001171473.1:p.Met200Thr NC_000019.10:1805950:A:G p.(Met200Thr) NC_000019.10:1805950:A:G p.(Met200Thr) NC_000019.10:1805950:A:G Identity +NM_001284355.4:c.299C>T NP_001271284.1:p.Pro100Leu NC_000007.14:2700749:C:T p.(Pro100Leu) NC_000007.14:2700749:C:T p.(Pro100Leu) NC_000007.14:2700749:C:T Identity +NM_001277174.2:c.953T>C NP_001264103.1:p.Val318Ala NC_000014.9:23357451:A:G p.(Val318Ala) NC_000014.9:23357451:A:G p.(Val318Ala) NC_000014.9:23357451:A:G Identity +NM_001002026.3:c.476G>A NP_001002026.1:p.Gly159Asp NC_000003.12:138024696:G:A p.(Gly159Asp) NC_000003.12:138024696:G:A p.(Gly159Asp) NC_000003.12:138024696:G:A Identity +NM_015078.4:c.2566C>T NP_055893.4:p.Arg856Cys NC_000003.12:183207753:G:A p.(Arg856Cys) NC_000003.12:183207753:G:A p.(Arg856Cys) NC_000003.12:183207753:G:A Identity +NM_001113182.3:c.934C>T NP_001106653.1:p.Arg312Trp NC_000006.12:32976669:C:T p.(Arg312Trp) NC_000006.12:32976669:C:T p.(Arg312Trp) NC_000006.12:32976669:C:T Identity +NM_182542.3:c.493G>C NP_872348.2:p.Glu165Gln NC_000013.11:45596512:C:G p.(Glu165Gln) NC_000013.11:45596512:C:G p.(Glu165Gln) NC_000013.11:45596512:C:G Identity +NM_001105659.2:c.433G>A NP_001099129.1:p.Val145Ile NC_000001.11:74182677:C:T p.(Val145Ile) NC_000001.11:74182677:C:T p.(Val145Ile) NC_000001.11:74182677:C:T Identity +NM_001114380.2:c.3231G>T NP_001107852.1:p.Lys1077Asn NC_000016.10:30521634:G:T p.(Lys1077Asn) NC_000016.10:30521634:G:T p.(Lys1077Asn) NC_000016.10:30521634:G:T Identity +NM_001258210.2:c.430C>T NP_001245139.1:p.Arg144Trp NC_000011.10:76796045:C:T p.(Arg144Trp) NC_000011.10:76796045:C:T p.(Arg144Trp) NC_000011.10:76796045:C:T Identity +NM_001199417.2:c.1097G>T NP_001186346.1:p.Gly366Val NC_000017.11:38466779:G:T p.(Gly366Val) NC_000017.11:38466779:G:T p.(Gly366Val) NC_000017.11:38466779:G:T Identity +NM_001104647.3:c.704C>T NP_001098117.1:p.Thr235Ile NC_000003.12:140973966:C:T p.(Thr235Ile) NC_000003.12:140973966:C:T p.(Thr235Ile) NC_000003.12:140973966:C:T Identity +NM_001393532.1:c.571C>A NP_001380461.1:p.Pro191Thr NC_000019.10:8843248:C:A p.(Pro191Thr) NC_000019.10:8843248:C:A p.(Pro191Thr) NC_000019.10:8843248:C:A Identity +NM_001130413.4:c.1874A>G NP_001123885.2:p.Lys625Arg NC_000001.11:1290650:A:G p.(Lys625Arg) NC_000001.11:1290650:A:G p.(Lys625Arg) NC_000001.11:1290650:A:G Identity +NM_001278298.2:c.482G>A NP_001265227.1:p.Gly161Glu NC_000003.12:130376650:G:A p.(Gly161Glu) NC_000003.12:130376650:G:A p.(Gly161Glu) NC_000003.12:130376650:G:A Identity +NM_133448.3:c.3154G>A NP_597705.2:p.Ala1052Thr NC_000012.12:129074020:C:T p.(Ala1052Thr) NC_000012.12:129074020:C:T p.(Ala1052Thr) NC_000012.12:129074020:C:T Identity +NM_001033719.3:c.847C>T NP_001028891.2:p.Arg283Cys NC_000019.10:43873366:G:A p.(Arg283Cys) NC_000019.10:43873366:G:A p.(Arg283Cys) NC_000019.10:43873366:G:A Identity +NM_207446.3:c.193A>G NP_997329.2:p.Ser65Gly NC_000015.10:92655466:T:C p.(Ser65Gly) NC_000015.10:92655466:T:C p.(Ser65Gly) NC_000015.10:92655466:T:C Identity +NM_001326559.2:c.2084C>T NP_001313488.2:p.Ala695Val NC_000002.12:219635702:C:T p.(Ala695Val) NC_000002.12:219635702:C:T p.(Ala695Val) NC_000002.12:219635702:C:T Identity +NM_001145346.2:c.2237G>A NP_001138818.1:p.Arg746His NC_000023.11:115191677:G:A p.(Arg746His) NC_000023.11:115191677:G:A p.(Arg746His) NC_000023.11:115191677:G:A Identity +NM_025092.5:c.980G>A NP_079368.3:p.Arg327His NC_000011.10:292048:G:A p.(Arg327His) NC_000011.10:292048:G:A p.(Arg327His) NC_000011.10:292048:G:A Identity +NM_001199281.1:c.2557C>T NP_001186210.1:p.Arg853Trp NC_000022.11:24072434:C:T p.(Arg853Trp) NC_000022.11:24072434:C:T p.(Arg853Trp) NC_000022.11:24072434:C:T Identity +NM_006184.6:c.1100G>A NP_006175.2:p.Arg367His NC_000019.10:48921250:G:A p.(Arg367His) NC_000019.10:48921250:G:A p.(Arg367His) NC_000019.10:48921250:G:A Identity +NM_015657.4:c.6370G>A NP_056472.2:p.Val2124Ile NC_000002.12:214945019:C:T p.(Val2124Ile) NC_000002.12:214945019:C:T p.(Val2124Ile) NC_000002.12:214945019:C:T Identity +NM_001161630.1:c.295C>T NP_001155102.1:p.Arg99Cys NC_000011.10:95025851:C:T p.(Arg99Cys) NC_000011.10:95025851:C:T p.(Arg99Cys) NC_000011.10:95025851:C:T Identity +NM_004521.3:c.2863G>A NP_004512.1:p.Val955Met NC_000010.11:32015557:C:T p.(Val955Met) NC_000010.11:32015557:C:T p.(Val955Met) NC_000010.11:32015557:C:T Identity +NM_177551.4:c.812C>T NP_808219.1:p.Ser271Leu NC_000012.12:122702471:G:A p.(Ser271Leu) NC_000012.12:122702471:G:A p.(Ser271Leu) NC_000012.12:122702471:G:A Identity +NM_206997.1:c.568G>A NP_996880.1:p.Glu190Lys NC_000011.10:67452156:C:T p.(Glu190Lys) NC_000011.10:67452156:C:T p.(Glu190Lys) NC_000011.10:67452156:C:T Identity +NM_001113226.3:c.1558G>C NP_001106697.1:p.Gly520Arg NC_000001.11:107480777:G:C p.(Gly520Arg) NC_000001.11:107480777:G:C p.(Gly520Arg) NC_000001.11:107480777:G:C Identity +NM_001032731.2:c.187T>G NP_001027903.1:p.Tyr63Asp NC_000012.12:112987046:T:G p.(Tyr63Asp) NC_000012.12:112987046:T:G p.(Tyr63Asp) NC_000012.12:112987046:T:G Identity +NM_001146695.4:c.2023G>C NP_001140167.1:p.Val675Leu NC_000009.12:7013841:G:C p.(Val675Leu) NC_000009.12:7013841:G:C p.(Val675Leu) NC_000009.12:7013841:G:C Identity +NM_001297755.2:c.3076G>A NP_001284684.2:p.Ala1026Thr NC_000004.12:83407481:C:T p.(Ala1026Thr) NC_000004.12:83407481:C:T p.(Ala1026Thr) NC_000004.12:83407481:C:T Identity +NM_001204504.3:c.686C>T NP_001191433.1:p.Thr229Ile NC_000013.11:42159328:C:T p.(Thr229Ile) NC_000013.11:42159328:C:T p.(Thr229Ile) NC_000013.11:42159328:C:T Identity +NM_001195082.2:c.160C>G NP_001182011.1:p.Pro54Ala NC_000014.9:105411376:C:G p.(Pro54Ala) NC_000014.9:105411376:C:G p.(Pro54Ala) NC_000014.9:105411376:C:G Identity +NM_002419.4:c.67G>A NP_002410.1:p.Gly23Ser NC_000011.10:65613689:C:T p.(Gly23Ser) NC_000011.10:65613689:C:T p.(Gly23Ser) NC_000011.10:65613689:C:T Identity +NM_001317214.3:c.839T>C NP_001304143.1:p.Val280Ala NC_000018.10:65824688:T:C p.(Val280Ala) NC_000018.10:65824688:T:C p.(Val280Ala) NC_000018.10:65824688:T:C Identity +NM_001005172.2:c.407A>C NP_001005172.2:p.Lys136Thr NC_000011.10:4449745:A:C p.(Lys136Thr) NC_000011.10:4449745:A:C p.(Lys136Thr) NC_000011.10:4449745:A:C Identity +NM_001321190.2:c.287G>A NP_001308119.1:p.Arg96His NC_000019.10:49007140:G:A p.(Arg96His) NC_000019.10:49007140:G:A p.(Arg96His) NC_000019.10:49007140:G:A Identity +NM_001111038.2:c.89G>A NP_001104508.1:p.Arg30His NC_000007.14:103028727:C:T p.(Arg30His) NC_000007.14:103028727:C:T p.(Arg30His) NC_000007.14:103028727:C:T Identity +NM_148961.4:c.94G>A NP_683764.1:p.Ala32Thr NC_000002.12:240139345:C:T p.(Ala32Thr) NC_000002.12:240139345:C:T p.(Ala32Thr) NC_000002.12:240139345:C:T Identity +NM_001198532.1:c.2176C>T NP_001185461.1:p.His726Tyr NC_000008.11:106740351:C:T p.(His726Tyr) NC_000008.11:106740351:C:T p.(His726Tyr) NC_000008.11:106740351:C:T Identity +NM_152414.5:c.679A>G NP_689627.1:p.Ser227Gly NC_000008.11:64581468:A:G p.(Ser227Gly) NC_000008.11:64581468:A:G p.(Ser227Gly) NC_000008.11:64581468:A:G Identity +NM_138702.1:c.128G>A NP_619647.1:p.Arg43Gln NC_000023.11:141865474:G:A p.(Arg43Gln) NC_000023.11:141865474:G:A p.(Arg43Gln) NC_000023.11:141865474:G:A Identity +NM_194449.4:c.1592C>T NP_919431.2:p.Thr531Met NC_000018.10:62830049:C:T p.(Thr531Met) NC_000018.10:62830049:C:T p.(Thr531Met) NC_000018.10:62830049:C:T Identity +NM_020737.3:c.976G>A NP_065788.1:p.Asp326Asn NC_000006.12:40432137:C:T p.(Asp326Asn) NC_000006.12:40432137:C:T p.(Asp326Asn) NC_000006.12:40432137:C:T Identity +NM_001136499.2:c.827T>C NP_001129971.1:p.Leu276Pro NC_000019.10:52067054:A:G p.(Leu276Pro) NC_000019.10:52067054:A:G p.(Leu276Pro) NC_000019.10:52067054:A:G Identity +NM_173595.4:c.2864A>G NP_775866.2:p.Asn955Ser NC_000012.12:56244074:T:C p.(Asn955Ser) NC_000012.12:56244074:T:C p.(Asn955Ser) NC_000012.12:56244074:T:C Identity +NM_001199378.2:c.562A>G NP_001186307.1:p.Met188Val NC_000010.11:102352495:A:G p.(Met188Val) NC_000010.11:102352495:A:G p.(Met188Val) NC_000010.11:102352495:A:G Identity +NM_014452.5:c.872C>T NP_055267.1:p.Thr291Ile NC_000006.12:47284308:G:A p.(Thr291Ile) NC_000006.12:47284308:G:A p.(Thr291Ile) NC_000006.12:47284308:G:A Identity +NM_152457.3:c.301C>A NP_689670.1:p.Pro101Thr NC_000016.10:3437397:G:T p.(Pro101Thr) NC_000016.10:3437397:G:T p.(Pro101Thr) NC_000016.10:3437397:G:T Identity +NM_001320333.2:c.1811G>A NP_001307262.1:p.Gly604Glu NC_000001.11:157683243:C:T p.(Gly604Glu) NC_000001.11:157683243:C:T p.(Gly604Glu) NC_000001.11:157683243:C:T Identity +NM_001321153.2:c.3814G>A NP_001308082.1:p.Gly1272Arg NC_000003.12:38115001:G:A p.(Gly1272Arg) NC_000003.12:38115001:G:A p.(Gly1272Arg) NC_000003.12:38115001:G:A Identity +NM_001351678.2:c.506G>A NP_001338607.1:p.Arg169His NC_000019.10:9468122:C:T p.(Arg169His) NC_000019.10:9468122:C:T p.(Arg169His) NC_000019.10:9468122:C:T Identity +NM_178563.4:c.1196T>C NP_848658.3:p.Val399Ala NC_000007.14:135034786:T:C p.(Val399Ala) NC_000007.14:135034786:T:C p.(Val399Ala) NC_000007.14:135034786:T:C Identity +NM_001270427.2:c.746G>A NP_001257356.1:p.Arg249His NC_000009.12:120824624:C:T p.(Arg249His) NC_000009.12:120824624:C:T p.(Arg249His) NC_000009.12:120824624:C:T Identity +NM_001287005.2:c.705G>T NP_001273934.1:p.Gln235His NC_000009.12:93084722:G:T p.(Gln235His) NC_000009.12:93084722:G:T p.(Gln235His) NC_000009.12:93084722:G:T Identity +NM_001185099.2:c.2227G>A NP_001172028.1:p.Gly743Arg NC_000019.10:35346643:G:A p.(Gly743Arg) NC_000019.10:35346643:G:A p.(Gly743Arg) NC_000019.10:35346643:G:A Identity +NM_005508.5:c.263T>G NP_005499.1:p.Phe88Cys NC_000003.12:32953684:T:G p.(Phe88Cys) NC_000003.12:32953684:T:G p.(Phe88Cys) NC_000003.12:32953684:T:G Identity +NM_017735.5:c.89A>G NP_060205.3:p.Glu30Gly NC_000002.12:32630522:A:G p.(Glu30Gly) NC_000002.12:32630522:A:G p.(Glu30Gly) NC_000002.12:32630522:A:G Identity +NM_001282726.2:c.520G>A NP_001269655.1:p.Val174Ile NC_000022.11:40777101:C:T p.(Val174Ile) NC_000022.11:40777101:C:T p.(Val174Ile) NC_000022.11:40777101:C:T Identity +NM_005165.3:c.229G>A NP_005156.1:p.Val77Ile NC_000017.11:28575217:C:T p.(Val77Ile) NC_000017.11:28575217:C:T p.(Val77Ile) NC_000017.11:28575217:C:T Identity +NM_001178029.2:c.382G>A NP_001171500.1:p.Val128Ile NC_000016.10:2244464:C:T p.(Val128Ile) NC_000016.10:2244464:C:T p.(Val128Ile) NC_000016.10:2244464:C:T Identity +NM_001363889.2:c.2896G>A NP_001350818.1:p.Glu966Lys NC_000003.12:133624068:C:T p.(Glu966Lys) NC_000003.12:133624068:C:T p.(Glu966Lys) NC_000003.12:133624068:C:T Identity +NM_006770.4:c.202C>G NP_006761.1:p.Leu68Val NC_000002.12:118970115:C:G p.(Leu68Val) NC_000002.12:118970115:C:G p.(Leu68Val) NC_000002.12:118970115:C:G Identity +NM_001308295.2:c.1249G>C NP_001295224.1:p.Glu417Gln NC_000010.11:15112845:C:G p.(Glu417Gln) NC_000010.11:15112845:C:G p.(Glu417Gln) NC_000010.11:15112845:C:G Identity +NM_032876.6:c.1498C>T NP_116265.1:p.Arg500Trp NC_000014.9:22973561:G:A p.(Arg500Trp) NC_000014.9:22973561:G:A p.(Arg500Trp) NC_000014.9:22973561:G:A Identity +NM_001145719.1:c.578G>A NP_001139191.1:p.Arg193His NC_000010.11:80603659:G:A p.(Arg193His) NC_000010.11:80603659:G:A p.(Arg193His) NC_000010.11:80603659:G:A Identity +NM_001199821.2:c.32A>G NP_001186750.1:p.Asp11Gly NC_000014.9:24215923:T:C p.(Asp11Gly) NC_000014.9:24215923:T:C p.(Asp11Gly) NC_000014.9:24215923:T:C Identity +NM_000445.5:c.5542G>A NP_000436.2:p.Glu1848Lys NC_000008.11:143924467:C:T p.(Glu1848Lys) NC_000008.11:143924467:C:T p.(Glu1848Lys) NC_000008.11:143924467:C:T Identity +NM_001164496.2:c.872C>T NP_001157968.1:p.Ser291Leu NC_000003.12:113409123:G:A p.(Ser291Leu) NC_000003.12:113409123:G:A p.(Ser291Leu) NC_000003.12:113409123:G:A Identity +NM_001142397.2:c.1052G>A NP_001135869.1:p.Arg351Gln NC_000018.10:48758385:G:A p.(Arg351Gln) NC_000018.10:48758385:G:A p.(Arg351Gln) NC_000018.10:48758385:G:A Identity +NM_001322249.4:c.172G>A NP_001309178.3:p.Glu58Lys NC_000002.12:37089751:G:A p.(Glu58Lys) NC_000002.12:37089751:G:A p.(Glu58Lys) NC_000002.12:37089751:G:A Identity +NM_014786.4:c.2755C>T NP_055601.2:p.Arg919Cys NC_000011.10:73311392:C:T p.(Arg919Cys) NC_000011.10:73311392:C:T p.(Arg919Cys) NC_000011.10:73311392:C:T Identity +NM_001039999.3:c.1412G>A NP_001035088.2:p.Arg471His NC_000017.11:18978253:C:T p.(Arg471His) NC_000017.11:18978253:C:T p.(Arg471His) NC_000017.11:18978253:C:T Identity +NM_018242.3:c.1462C>T NP_060712.2:p.Leu488Phe NC_000017.11:19572836:C:T p.(Leu488Phe) NC_000017.11:19572836:C:T p.(Leu488Phe) NC_000017.11:19572836:C:T Identity +NM_001161342.3:c.266T>C NP_001154814.1:p.Leu89Pro NC_000005.10:73123638:T:C p.(Leu89Pro) NC_000005.10:73123638:T:C p.(Leu89Pro) NC_000005.10:73123638:T:C Identity +NM_018933.4:c.1028A>G NP_061756.1:p.Asp343Gly NC_000005.10:141215150:A:G p.(Asp343Gly) NC_000005.10:141215150:A:G p.(Asp343Gly) NC_000005.10:141215150:A:G Identity +NM_018963.5:c.2773C>T NP_061836.2:p.Arg925Trp NC_000021.9:39232491:G:A p.(Arg925Trp) NC_000021.9:39232491:G:A p.(Arg925Trp) NC_000021.9:39232491:G:A Identity +NM_001284292.2:c.1046C>T NP_001271221.2:p.Pro349Leu NC_000015.10:34353842:C:T p.(Pro349Leu) NC_000015.10:34353842:C:T p.(Pro349Leu) NC_000015.10:34353842:C:T Identity +NM_001316936.2:c.428G>A NP_001303865.1:p.Arg143Gln NC_000019.10:9811349:C:T p.(Arg143Gln) NC_000019.10:9811349:C:T p.(Arg143Gln) NC_000019.10:9811349:C:T Identity +NM_152654.3:c.235C>T NP_689867.1:p.Arg79Cys NC_000019.10:12969894:C:T p.(Arg79Cys) NC_000019.10:12969894:C:T p.(Arg79Cys) NC_000019.10:12969894:C:T Identity +NM_001302769.2:c.463G>A NP_001289698.1:p.Ala155Thr NC_000002.12:205047648:G:A p.(Ala155Thr) NC_000002.12:205047648:G:A p.(Ala155Thr) NC_000002.12:205047648:G:A Identity +NM_001007538.2:c.521G>A NP_001007539.1:p.Arg174Gln NC_000013.11:26046879:C:T p.(Arg174Gln) NC_000013.11:26046879:C:T p.(Arg174Gln) NC_000013.11:26046879:C:T Identity +NM_007361.4:c.2430T>G NP_031387.3:p.His810Gln NC_000014.9:52028821:A:C p.(His810Gln) NC_000014.9:52028821:A:C p.(His810Gln) NC_000014.9:52028821:A:C Identity +NM_001412141.1:c.1293T>C NP_001399070.1:p.Thr431= NC_000001.11:54139577:A:G ERR:Data provider error: ValueError: Transcript NM_001412141.1 not found ERR:Data provider error: ValueError: Transcript NM_001412141.1 not found ERR:AlignmentMapper(tx_ac=NM_001412141.1, alt_ac=NM_001412141.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001412141.1, alt_ac=NM_001412141.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001412141.1 not found +NM_001318480.2:c.2818C>G NP_001305409.2:p.Leu940Val NC_000004.12:8232070:C:G p.(Leu940Val) NC_000004.12:8232070:C:G p.(Leu940Val) NC_000004.12:8232070:C:G Identity +NM_001280.3:c.397G>C NP_001271.1:p.Gly133Arg NC_000019.10:1271597:G:C p.(Gly133Arg) NC_000019.10:1271597:G:C p.(Gly133Arg) NC_000019.10:1271597:G:C Identity +NM_001286245.2:c.215C>G NP_001273174.1:p.Pro72Arg NC_000012.12:57607068:C:G p.(Pro72Arg) NC_000012.12:57607068:C:G p.(Pro72Arg) NC_000012.12:57607068:C:G Identity +NM_001282917.2:c.748C>T NP_001269846.1:p.Arg250Cys NC_000020.11:38509083:C:T p.(Arg250Cys) NC_000020.11:38509083:C:T p.(Arg250Cys) NC_000020.11:38509083:C:T Identity +NM_001198696.2:c.565C>T NP_001185625.1:p.Arg189Trp NC_000010.11:70117862:G:A p.(Arg189Trp) NC_000010.11:70117862:G:A p.(Arg189Trp) NC_000010.11:70117862:G:A Identity +NM_001282474.2:c.494G>A NP_001269403.1:p.Arg165His NC_000014.9:23562057:C:T p.(Arg165His) NC_000014.9:23562057:C:T p.(Arg165His) NC_000014.9:23562057:C:T Identity +NM_024121.3:c.618G>T NP_077026.2:p.Gln206His NC_000002.12:120222358:C:A p.(Gln206His) NC_000002.12:120222358:C:A p.(Gln206His) NC_000002.12:120222358:C:A Identity +NM_001267827.2:c.1864T>G NP_001254756.1:p.Trp622Gly NC_000014.9:102341606:T:G p.(Trp622Gly) NC_000014.9:102341606:T:G p.(Trp622Gly) NC_000014.9:102341606:T:G Identity +NM_001258415.2:c.118A>G NP_001245344.1:p.Arg40Gly NC_000011.10:110690547:T:C p.(Arg40Gly) NC_000011.10:110690547:T:C p.(Arg40Gly) NC_000011.10:110690547:T:C Identity +NM_001206665.2:c.1097G>T NP_001193594.1:p.Gly366Val NC_000001.11:160093138:C:A p.(Gly366Val) NC_000001.11:160093138:C:A p.(Gly366Val) NC_000001.11:160093138:C:A Identity +NM_153213.5:c.2361T>A NP_694945.2:p.Asn787Lys NC_000001.11:16198634:A:T p.(Asn787Lys) NC_000001.11:16198634:A:T p.(Asn787Lys) NC_000001.11:16198634:A:T Identity +NM_001146191.2:c.136A>G NP_001139663.1:p.Ile46Val NC_000001.11:167765626:A:G p.(Ile46Val) NC_000001.11:167765626:A:G p.(Ile46Val) NC_000001.11:167765626:A:G Identity +NM_001004019.2:c.70G>A NP_001004019.1:p.Val24Met NC_000003.12:13570424:G:A p.(Val24Met) NC_000003.12:13570424:G:A p.(Val24Met) NC_000003.12:13570424:G:A Identity +NM_001301206.2:c.1904T>C NP_001288135.1:p.Leu635Ser NC_000015.10:83263325:A:G p.(Leu635Ser) NC_000015.10:83263325:A:G p.(Leu635Ser) NC_000015.10:83263325:A:G Identity +NM_001353345.2:c.1654C>T NP_001340274.1:p.Pro552Ser NC_000012.12:121810598:C:T p.(Pro552Ser) NC_000012.12:121810598:C:T p.(Pro552Ser) NC_000012.12:121810598:C:T Identity +NM_001135685.2:c.1831C>T NP_001129157.1:p.Arg611Trp NC_000015.10:41504539:G:A p.(Arg611Trp) NC_000015.10:41504539:G:A p.(Arg611Trp) NC_000015.10:41504539:G:A Identity +NM_175886.3:c.163A>G NP_787082.1:p.Ile55Val NC_000007.14:18027619:T:C p.(Ile55Val) NC_000007.14:18027619:T:C p.(Ile55Val) NC_000007.14:18027619:T:C Identity +NM_005495.3:c.39C>A NP_005486.1:p.Asp13Glu NC_000006.12:25762000:C:A p.(Asp13Glu) NC_000006.12:25762000:C:A p.(Asp13Glu) NC_000006.12:25762000:C:A Identity +NM_001411058.1:c.1241G>A NP_001397987.1:p.Gly414Glu NC_000010.11:103414020:G:A p.(Gly414Glu) NC_000010.11:103414020:G:A p.(Gly414Glu) NC_000010.11:103414020:G:A Identity +NM_001303425.2:c.317A>G NP_001290354.1:p.Asp106Gly NC_000003.12:179333280:A:G p.(Asp106Gly) NC_000003.12:179333280:A:G p.(Asp106Gly) NC_000003.12:179333280:A:G Identity +NM_006456.3:c.62G>T NP_006447.2:p.Gly21Val NC_000017.11:76585746:C:A p.(Gly21Val) NC_000017.11:76585746:C:A p.(Gly21Val) NC_000017.11:76585746:C:A Identity +NM_001381939.1:c.1019C>T NP_001368868.1:p.Thr340Met NC_000006.12:169240464:G:A p.(Thr340Met) NC_000006.12:169240464:G:A p.(Thr340Met) NC_000006.12:169240464:G:A Identity +NM_001370.2:c.9260G>A NP_001361.1:p.Arg3087His NC_000002.12:84710293:G:A p.(Arg3087His) NC_000002.12:84710293:G:A p.(Arg3087His) NC_000002.12:84710293:G:A Identity +NM_002155.5:c.469C>A NP_002146.2:p.Arg157Ser NC_000001.11:161525126:C:A p.(Arg157Ser) NC_000001.11:161525126:C:A p.(Arg157Ser) NC_000001.11:161525126:C:A Identity +NM_017525.3:c.466C>G NP_059995.2:p.Leu156Val NC_000011.10:64840234:G:C p.(Leu156Val) NC_000011.10:64840234:G:C p.(Leu156Val) NC_000011.10:64840234:G:C Identity +NM_001287758.2:c.1384G>A NP_001274687.1:p.Glu462Lys NC_000023.11:108190433:C:T p.(Glu462Lys) NC_000023.11:108190433:C:T p.(Glu462Lys) NC_000023.11:108190433:C:T Identity +NM_001350929.2:c.15658G>A NP_001337858.1:p.Val5220Ile NC_000014.9:104939492:C:T p.(Val5220Ile) NC_000014.9:104939492:C:T p.(Val5220Ile) NC_000014.9:104939492:C:T Identity +NM_005027.4:c.404T>C NP_005018.2:p.Ile135Thr NC_000019.10:18160551:T:C p.(Ile135Thr) NC_000019.10:18160551:T:C p.(Ile135Thr) NC_000019.10:18160551:T:C Identity +NM_001136199.3:c.749C>T NP_001129671.1:p.Ser250Leu NC_000019.10:35013590:C:T p.(Ser250Leu) NC_000019.10:35013590:C:T p.(Ser250Leu) NC_000019.10:35013590:C:T Identity +NM_001410946.1:c.571G>C NP_001397875.1:p.Asp191His NC_000006.12:149863449:C:G p.(Asp191His) NC_000006.12:149863449:C:G p.(Asp191His) NC_000006.12:149863449:C:G Identity +NM_001178091.2:c.164A>G NP_001171562.1:p.Asp55Gly NC_000012.12:24894389:T:C p.(Asp55Gly) NC_000012.12:24894389:T:C p.(Asp55Gly) NC_000012.12:24894389:T:C Identity +NM_001363543.2:c.559A>T NP_001350472.1:p.Thr187Ser NC_000011.10:101962190:A:T p.(Thr187Ser) NC_000011.10:101962190:A:T p.(Thr187Ser) NC_000011.10:101962190:A:T Identity +NM_198510.3:c.1684C>T NP_940912.1:p.Arg562Cys NC_000023.11:54758389:G:A p.(Arg562Cys) NC_000023.11:54758389:G:A p.(Arg562Cys) NC_000023.11:54758389:G:A Identity +NM_001144026.3:c.1516G>T NP_001137498.1:p.Asp506Tyr NC_000009.12:137215978:G:T p.(Asp506Tyr) NC_000009.12:137215978:G:T p.(Asp506Tyr) NC_000009.12:137215978:G:T Identity +NM_001317947.2:c.562C>T NP_001304876.1:p.Pro188Ser NC_000017.11:791955:C:T p.(Pro188Ser) NC_000017.11:791955:C:T p.(Pro188Ser) NC_000017.11:791955:C:T Identity +NM_001105574.2:c.212C>T NP_001099044.1:p.Ala71Val NC_000010.11:123136261:C:T p.(Ala71Val) NC_000010.11:123136261:C:T p.(Ala71Val) NC_000010.11:123136261:C:T Identity +NM_001032372.2:c.191A>G NP_001027544.1:p.Gln64Arg NC_000019.10:44172907:A:G p.(Gln64Arg) NC_000019.10:44172907:A:G p.(Gln64Arg) NC_000019.10:44172907:A:G Identity +NM_004073.4:c.1138G>A NP_004064.2:p.Val380Ile NC_000001.11:44803664:G:A p.(Val380Ile) NC_000001.11:44803664:G:A p.(Val380Ile) NC_000001.11:44803664:G:A Identity +NM_005144.5:c.3076G>A NP_005135.2:p.Ala1026Thr NC_000008.11:22119184:C:T p.(Ala1026Thr) NC_000008.11:22119184:C:T p.(Ala1026Thr) NC_000008.11:22119184:C:T Identity +NM_152544.3:c.485C>A NP_689757.2:p.Ala162Asp NC_000004.12:8441306:C:A p.(Ala162Asp) NC_000004.12:8441306:C:A p.(Ala162Asp) NC_000004.12:8441306:C:A Identity +NM_001330227.3:c.114C>A NP_001317156.1:p.His38Gln NC_000011.10:17295436:C:A p.(His38Gln) NC_000011.10:17295436:C:A p.(His38Gln) NC_000011.10:17295436:C:A Identity +NM_001375986.1:c.817G>T NP_001362915.1:p.Asp273Tyr NC_000002.12:190436845:G:T p.(Asp273Tyr) NC_000002.12:190436845:G:T p.(Asp273Tyr) NC_000002.12:190436845:G:T Identity +NM_004638.4:c.335C>A NP_004629.3:p.Pro112Gln NC_000006.12:31624304:C:A p.(Pro112Gln) NC_000006.12:31624304:C:A p.(Pro112Gln) NC_000006.12:31624304:C:A Identity +NM_014865.4:c.4040G>A NP_055680.3:p.Arg1347His NC_000012.12:6530995:G:A p.(Arg1347His) NC_000012.12:6530995:G:A p.(Arg1347His) NC_000012.12:6530995:G:A Identity +NM_133445.3:c.2775A>T NP_597702.2:p.Gln925His NC_000009.12:101579351:T:A p.(Gln925His) NC_000009.12:101579351:T:A p.(Gln925His) NC_000009.12:101579351:T:A Identity +NM_001303270.2:c.1556C>T NP_001290199.1:p.Thr519Met NC_000017.11:7739871:C:T p.(Thr519Met) NC_000017.11:7739871:C:T p.(Thr519Met) NC_000017.11:7739871:C:T Identity +NM_001367830.1:c.2878G>A NP_001354759.1:p.Glu960Lys NC_000019.10:11228980:C:T p.(Glu960Lys) NC_000019.10:11228980:C:T p.(Glu960Lys) NC_000019.10:11228980:C:T Identity +NM_001004706.1:c.145G>A NP_001004706.1:p.Val49Met NC_000011.10:59503719:G:A p.(Val49Met) NC_000011.10:59503719:G:A p.(Val49Met) NC_000011.10:59503719:G:A Identity +NM_014555.4:c.52C>G NP_055370.1:p.Arg18Gly NC_000011.10:2422984:G:C p.(Arg18Gly) NC_000011.10:2422984:G:C p.(Arg18Gly) NC_000011.10:2422984:G:C Identity +NM_001164766.2:c.682C>T NP_001158238.1:p.Arg228Cys NC_000016.10:72889754:G:A p.(Arg228Cys) NC_000016.10:72889754:G:A p.(Arg228Cys) NC_000016.10:72889754:G:A Identity +NM_002852.4:c.413A>C NP_002843.2:p.Glu138Ala NC_000003.12:157437794:A:C p.(Glu138Ala) NC_000003.12:157437794:A:C p.(Glu138Ala) NC_000003.12:157437794:A:C Identity +NM_001256619.2:c.1336A>T NP_001243548.2:p.Ile446Phe NC_000010.11:98209449:A:T p.(Ile446Phe) NC_000010.11:98209449:A:T p.(Ile446Phe) NC_000010.11:98209449:A:T Identity +NM_001718.6:c.1214G>A NP_001709.1:p.Ser405Asn NC_000006.12:7879082:G:A p.(Ser405Asn) NC_000006.12:7879082:G:A p.(Ser405Asn) NC_000006.12:7879082:G:A Identity +NM_173493.3:c.713C>T NP_775764.2:p.Ser238Leu NC_000023.11:151648697:C:T p.(Ser238Leu) NC_000023.11:151648697:C:T p.(Ser238Leu) NC_000023.11:151648697:C:T Identity +NM_001366028.2:c.4054A>C NP_001352957.1:p.Ile1352Leu NC_000003.12:57446155:T:G p.(Ile1352Leu) NC_000003.12:57446155:T:G p.(Ile1352Leu) NC_000003.12:57446155:T:G Identity +NM_001242307.2:c.87C>G NP_001229236.1:p.Asn29Lys NC_000010.11:3170175:G:C p.(Asn29Lys) NC_000010.11:3170175:G:C p.(Asn29Lys) NC_000010.11:3170175:G:C Identity +NM_001114974.2:c.735G>T NP_001108446.1:p.Lys245Asn NC_000017.11:4593825:G:T p.(Lys245Asn) NC_000017.11:4593825:G:T p.(Lys245Asn) NC_000017.11:4593825:G:T Identity +NM_014383.3:c.287C>T NP_055198.1:p.Ala96Val NC_000019.10:35714912:C:T p.(Ala96Val) NC_000019.10:35714912:C:T p.(Ala96Val) NC_000019.10:35714912:C:T Identity +NM_152546.3:c.479G>A NP_689759.2:p.Arg160His NC_000005.10:122020213:G:A p.(Arg160His) NC_000005.10:122020213:G:A p.(Arg160His) NC_000005.10:122020213:G:A Identity +NM_002565.4:c.877C>G NP_002556.1:p.Pro293Ala NC_000023.11:70258747:G:C p.(Pro293Ala) NC_000023.11:70258747:G:C p.(Pro293Ala) NC_000023.11:70258747:G:C Identity +NM_025258.3:c.359C>T NP_079534.2:p.Ser120Phe NC_000006.12:31776117:G:A p.(Ser120Phe) NC_000006.12:31776117:G:A p.(Ser120Phe) NC_000006.12:31776117:G:A Identity +NM_001190844.2:c.298G>A NP_001177773.1:p.Ala100Thr NC_000019.10:17448164:C:T p.(Ala100Thr) NC_000019.10:17448164:C:T p.(Ala100Thr) NC_000019.10:17448164:C:T Identity +NM_001286692.2:c.3287G>A NP_001273621.1:p.Arg1096Gln NC_000008.11:99981973:C:T p.(Arg1096Gln) NC_000008.11:99981973:C:T p.(Arg1096Gln) NC_000008.11:99981973:C:T Identity +NM_001297763.2:c.2042G>A NP_001284692.1:p.Arg681Gln NC_000019.10:40015389:G:A p.(Arg681Gln) NC_000019.10:40015389:G:A p.(Arg681Gln) NC_000019.10:40015389:G:A Identity +NM_001433.5:c.512G>A NP_001424.3:p.Arg171Gln NC_000017.11:64068257:C:T p.(Arg171Gln) NC_000017.11:64068257:C:T p.(Arg171Gln) NC_000017.11:64068257:C:T Identity +NM_001102653.1:c.1319G>A NP_001096123.1:p.Arg440Gln NC_000004.12:145144342:C:T p.(Arg440Gln) NC_000004.12:145144342:C:T p.(Arg440Gln) NC_000004.12:145144342:C:T Identity +NM_001363816.2:c.394C>A NP_001350745.1:p.Gln132Lys NC_000022.11:50506410:G:T p.(Gln132Lys) NC_000022.11:50506410:G:T p.(Gln132Lys) NC_000022.11:50506410:G:T Identity +NM_001288772.2:c.2458C>T NP_001275701.1:p.Leu820Phe NC_000012.12:18423992:C:T p.(Leu820Phe) NC_000012.12:18423992:C:T p.(Leu820Phe) NC_000012.12:18423992:C:T Identity +NM_016113.5:c.706G>T NP_057197.2:p.Ala236Ser NC_000017.11:16423548:G:T p.(Ala236Ser) NC_000017.11:16423548:G:T p.(Ala236Ser) NC_000017.11:16423548:G:T Identity +NM_025045.6:c.799C>T NP_079321.3:p.Arg267Cys NC_000022.11:38089197:G:A p.(Arg267Cys) NC_000022.11:38089197:G:A p.(Arg267Cys) NC_000022.11:38089197:G:A Identity +NM_001168355.3:c.971T>G NP_001161827.1:p.Leu324Arg NC_000005.10:38886169:T:G p.(Leu324Arg) NC_000005.10:38886169:T:G p.(Leu324Arg) NC_000005.10:38886169:T:G Identity +NM_024783.4:c.1174T>G NP_079059.2:p.Phe392Val NC_000011.10:47690532:A:C p.(Phe392Val) NC_000011.10:47690532:A:C p.(Phe392Val) NC_000011.10:47690532:A:C Identity +NM_001346445.2:c.17294A>C NP_001333374.1:p.Lys5765Thr NC_000011.10:62517122:T:G p.(Lys5765Thr) NC_000011.10:62517122:T:G p.(Lys5765Thr) NC_000011.10:62517122:T:G Identity +NM_001297573.2:c.1048T>C NP_001284502.1:p.Ser350Pro NC_000006.12:42268542:A:G p.(Ser350Pro) NC_000006.12:42268542:A:G p.(Ser350Pro) NC_000006.12:42268542:A:G Identity +NM_001172811.2:c.485A>G NP_001166282.1:p.Asn162Ser NC_000008.11:117161796:A:G p.(Asn162Ser) NC_000008.11:117161796:A:G p.(Asn162Ser) NC_000008.11:117161796:A:G Identity +NM_001301110.2:c.4595G>A NP_001288039.1:p.Arg1532Gln NC_000015.10:84025374:G:A p.(Arg1532Gln) NC_000015.10:84025374:G:A p.(Arg1532Gln) NC_000015.10:84025374:G:A Identity +NM_020877.5:c.9048A>T NP_065928.2:p.Glu3016Asp NC_000017.11:7804330:A:T p.(Glu3016Asp) NC_000017.11:7804330:A:T p.(Glu3016Asp) NC_000017.11:7804330:A:T Identity +NM_014439.4:c.308C>T NP_055254.2:p.Ala103Val NC_000002.12:112917676:C:T p.(Ala103Val) NC_000002.12:112917676:C:T p.(Ala103Val) NC_000002.12:112917676:C:T Identity +NM_001318082.2:c.2134T>G NP_001305011.1:p.Leu712Val NC_000007.14:99531862:T:G p.(Leu712Val) NC_000007.14:99531862:T:G p.(Leu712Val) NC_000007.14:99531862:T:G Identity +NM_020950.2:c.2530C>T NP_066001.1:p.Arg844Trp NC_000001.11:180936438:C:T p.(Arg844Trp) NC_000001.11:180936438:C:T p.(Arg844Trp) NC_000001.11:180936438:C:T Identity +NM_014699.4:c.5237G>A NP_055514.3:p.Arg1746Gln NC_000016.10:31081560:G:A p.(Arg1746Gln) NC_000016.10:31081560:G:A p.(Arg1746Gln) NC_000016.10:31081560:G:A Identity +NM_001288962.2:c.469C>T NP_001275891.1:p.Arg157Trp NC_000019.10:6743553:C:T p.(Arg157Trp) NC_000019.10:6743553:C:T p.(Arg157Trp) NC_000019.10:6743553:C:T Identity +NM_001199957.2:c.392C>T NP_001186886.1:p.Pro131Leu NC_000003.12:179624017:C:T p.(Pro131Leu) NC_000003.12:179624017:C:T p.(Pro131Leu) NC_000003.12:179624017:C:T Identity +NM_003737.4:c.644G>A NP_003728.1:p.Arg215Gln NC_000011.10:6640969:C:T p.(Arg215Gln) NC_000011.10:6640969:C:T p.(Arg215Gln) NC_000011.10:6640969:C:T Identity +NM_001426.4:c.43G>C NP_001417.3:p.Ala15Pro NC_000002.12:118847124:C:G p.(Ala15Pro) NC_000002.12:118847124:C:G p.(Ala15Pro) NC_000002.12:118847124:C:G Identity +NM_016172.3:c.998C>T NP_057256.2:p.Pro333Leu NC_000009.12:135938325:G:A p.(Pro333Leu) NC_000009.12:135938325:G:A p.(Pro333Leu) NC_000009.12:135938325:G:A Identity +NM_019043.4:c.33G>A NP_061916.3:p.Met11Ile NC_000010.11:26492358:G:A p.(Met11Ile) NC_000010.11:26492358:G:A p.(Met11Ile) NC_000010.11:26492358:G:A Identity +NM_006825.4:c.1132C>T NP_006816.2:p.Arg378Cys NC_000012.12:106239700:G:A p.(Arg378Cys) NC_000012.12:106239700:G:A p.(Arg378Cys) NC_000012.12:106239700:G:A Identity +NM_015720.4:c.1782G>T NP_056535.1:p.Glu594Asp NC_000003.12:127672443:G:T p.(Glu594Asp) NC_000003.12:127672443:G:T p.(Glu594Asp) NC_000003.12:127672443:G:T Identity +NM_001080413.3:c.1034C>T NP_001073882.3:p.Ser345Leu NC_000007.14:144400122:G:A p.(Ser345Leu) NC_000007.14:144400122:G:A p.(Ser345Leu) NC_000007.14:144400122:G:A Identity +NM_002929.3:c.368G>A NP_002920.1:p.Cys123Tyr NC_000013.11:113667753:G:A p.(Cys123Tyr) NC_000013.11:113667753:G:A p.(Cys123Tyr) NC_000013.11:113667753:G:A Identity +NM_001300980.2:c.645G>C NP_001287909.1:p.Leu215Phe NC_000005.10:140642626:G:C p.(Leu215Phe) NC_000005.10:140642626:G:C p.(Leu215Phe) NC_000005.10:140642626:G:C Identity +NM_004279.3:c.1034A>G NP_004270.2:p.Asn345Ser NC_000007.14:103310354:A:G p.(Asn345Ser) NC_000007.14:103310354:A:G p.(Asn345Ser) NC_000007.14:103310354:A:G Identity +NM_001317940.2:c.2503G>A NP_001304869.1:p.Asp835Asn NC_000009.12:16419500:C:T p.(Asp835Asn) NC_000009.12:16419500:C:T p.(Asp835Asn) NC_000009.12:16419500:C:T Identity +NM_002557.4:c.374T>C NP_002548.3:p.Ile125Thr NC_000001.11:111423651:A:G p.(Ile125Thr) NC_000001.11:111423651:A:G p.(Ile125Thr) NC_000001.11:111423651:A:G Identity +NM_001199144.2:c.8138G>A NP_001186073.1:p.Arg2713Gln NC_000002.12:167250195:G:A p.(Arg2713Gln) NC_000002.12:167250195:G:A p.(Arg2713Gln) NC_000002.12:167250195:G:A Identity +NM_001329630.2:c.707C>T NP_001316559.1:p.Thr236Met NC_000011.10:16841711:G:A p.(Thr236Met) NC_000011.10:16841711:G:A p.(Thr236Met) NC_000011.10:16841711:G:A Identity +NM_001174084.2:c.958G>A NP_001167555.1:p.Gly320Arg NC_000010.11:101583614:C:T p.(Gly320Arg) NC_000010.11:101583614:C:T p.(Gly320Arg) NC_000010.11:101583614:C:T Identity +NM_001321525.2:c.1700G>A NP_001308454.1:p.Arg567Gln NC_000002.12:96024324:C:T p.(Arg567Gln) NC_000002.12:96024324:C:T p.(Arg567Gln) NC_000002.12:96024324:C:T Identity +NM_001008392.2:c.274G>A NP_001008393.1:p.Ala92Thr NC_000003.12:37964576:G:A p.(Ala92Thr) NC_000003.12:37964576:G:A p.(Ala92Thr) NC_000003.12:37964576:G:A Identity +NM_001190956.2:c.452C>A NP_001177885.1:p.Ser151Tyr NC_000008.11:39610635:C:A p.(Ser151Tyr) NC_000008.11:39610635:C:A p.(Ser151Tyr) NC_000008.11:39610635:C:A Identity +NM_001281435.2:c.25G>C NP_001268364.1:p.Gly9Arg NC_000017.11:12020910:G:C p.(Gly9Arg) NC_000017.11:12020910:G:C p.(Gly9Arg) NC_000017.11:12020910:G:C Identity +NM_001014999.3:c.413G>A NP_001014999.1:p.Arg138His NC_000016.10:30195057:G:A p.(Arg138His) NC_000016.10:30195057:G:A p.(Arg138His) NC_000016.10:30195057:G:A Identity +NM_001367447.1:c.1265G>A NP_001354376.1:p.Arg422His NC_000010.11:24620599:C:T p.(Arg422His) NC_000010.11:24620599:C:T p.(Arg422His) NC_000010.11:24620599:C:T Identity +NM_000296.4:c.7562A>G NP_000287.4:p.His2521Arg NC_000016.10:2106231:T:C p.(His2521Arg) NC_000016.10:2106231:T:C p.(His2521Arg) NC_000016.10:2106231:T:C Identity +NM_001135649.3:c.86C>G NP_001129121.1:p.Ala29Gly NC_000002.12:88452449:G:C p.(Ala29Gly) NC_000002.12:88452449:G:C p.(Ala29Gly) NC_000002.12:88452449:G:C Identity +NM_001080497.3:c.1720G>A NP_001073966.2:p.Val574Ile NC_000009.12:120605278:C:T p.(Val574Ile) NC_000009.12:120605278:C:T p.(Val574Ile) NC_000009.12:120605278:C:T Identity +NM_001142552.2:c.934G>A NP_001136024.1:p.Gly312Ser NC_000004.12:154490421:C:T p.(Gly312Ser) NC_000004.12:154490421:C:T p.(Gly312Ser) NC_000004.12:154490421:C:T Identity +NM_001010876.2:c.250G>T NP_001010876.1:p.Val84Phe NC_000006.12:129833528:C:A p.(Val84Phe) NC_000006.12:129833528:C:A p.(Val84Phe) NC_000006.12:129833528:C:A Identity +NM_001145909.2:c.1310C>T NP_001139381.1:p.Pro437Leu NC_000002.12:159170787:C:T p.(Pro437Leu) NC_000002.12:159170787:C:T p.(Pro437Leu) NC_000002.12:159170787:C:T Identity +NM_001397346.1:c.202T>A NP_001384275.1:p.Phe68Ile NC_000019.10:47802973:A:T p.(Phe68Ile) NC_000019.10:47802973:A:T p.(Phe68Ile) NC_000019.10:47802973:A:T Identity +NM_001322123.1:c.82T>A NP_001309052.1:p.Phe28Ile NC_000002.12:61011808:A:T p.(Phe28Ile) NC_000002.12:61011808:A:T p.(Phe28Ile) NC_000002.12:61011808:A:T Identity +NM_017943.4:c.1589C>T NP_060413.2:p.Pro530Leu NC_000014.9:55351978:C:T p.(Pro530Leu) NC_000014.9:55351978:C:T p.(Pro530Leu) NC_000014.9:55351978:C:T Identity +NM_001378213.1:c.3822G>T NP_001365142.1:p.Met1274Ile NC_000011.10:118899092:C:A p.(Met1274Ile) NC_000011.10:118899092:C:A p.(Met1274Ile) NC_000011.10:118899092:C:A Identity +NM_001253387.2:c.1169A>G NP_001240316.1:p.Asn390Ser NC_000003.12:360334:A:G p.(Asn390Ser) NC_000003.12:360334:A:G p.(Asn390Ser) NC_000003.12:360334:A:G Identity +NM_001166135.2:c.277G>A NP_001159607.1:p.Asp93Asn NC_000007.14:128335955:C:T p.(Asp93Asn) NC_000007.14:128335955:C:T p.(Asp93Asn) NC_000007.14:128335955:C:T Identity +NM_001195138.2:c.178C>T NP_001182067.1:p.Arg60Cys NC_000004.12:106367257:G:A p.(Arg60Cys) NC_000004.12:106367257:G:A p.(Arg60Cys) NC_000004.12:106367257:G:A Identity +NM_152372.4:c.1531G>A NP_689585.3:p.Glu511Lys NC_000001.11:24089620:C:T p.(Glu511Lys) NC_000001.11:24089620:C:T p.(Glu511Lys) NC_000001.11:24089620:C:T Identity +NM_001329515.3:c.894G>C NP_001316444.1:p.Lys298Asn NC_000019.10:37127884:G:C p.(Lys298Asn) NC_000019.10:37127884:G:C p.(Lys298Asn) NC_000019.10:37127884:G:C Identity +NM_019113.4:c.371G>A NP_061986.1:p.Arg124Gln NC_000019.10:48757960:G:A p.(Arg124Gln) NC_000019.10:48757960:G:A p.(Arg124Gln) NC_000019.10:48757960:G:A Identity +NM_015191.3:c.2114C>T NP_056006.1:p.Pro705Leu NC_000011.10:111722722:C:T p.(Pro705Leu) NC_000011.10:111722722:C:T p.(Pro705Leu) NC_000011.10:111722722:C:T Identity +NM_001014972.3:c.2872A>G NP_001014972.1:p.Lys958Glu NC_000002.12:71403911:A:G p.(Lys958Glu) NC_000002.12:71403911:A:G p.(Lys958Glu) NC_000002.12:71403911:A:G Identity +NM_001281450.1:c.592G>C NP_001268379.1:p.Gly198Arg NC_000007.14:73318955:C:G p.(Gly198Arg) NC_000007.14:73318955:C:G p.(Gly198Arg) NC_000007.14:73318955:C:G Identity +NM_001322117.1:c.523G>C NP_001309046.1:p.Val175Leu NC_000016.10:70129037:G:C p.(Val175Leu) NC_000016.10:70129037:G:C p.(Val175Leu) NC_000016.10:70129037:G:C Identity +NM_001297609.2:c.3631C>G NP_001284538.1:p.Gln1211Glu NC_000001.11:27356081:G:C p.(Gln1211Glu) NC_000001.11:27356081:G:C p.(Gln1211Glu) NC_000001.11:27356081:G:C Identity +NM_001393492.1:c.41A>C NP_001380421.1:p.Glu14Ala NC_000005.10:850561:T:G p.(Glu14Ala) NC_000005.10:850561:T:G p.(Glu14Ala) NC_000005.10:850561:T:G Identity +NM_001085363.1:c.86G>T NP_001078832.1:p.Gly29Val NC_000019.10:1567972:C:A ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001085363.1, alt_ac=NM_001085363.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001085363.1 not found +NM_024308.4:c.50C>T NP_077284.2:p.Thr17Met NC_000017.11:36592058:C:T p.(Thr17Met) NC_000017.11:36592058:C:T p.(Thr17Met) NC_000017.11:36592058:C:T Identity +NM_178523.5:c.1519C>T NP_848618.2:p.Arg507Cys NC_000019.10:52115644:G:A p.(Arg507Cys) NC_000019.10:52115644:G:A p.(Arg507Cys) NC_000019.10:52115644:G:A Identity +NM_007197.4:c.500C>T NP_009128.1:p.Pro167Leu NC_000012.12:130163441:C:T p.(Pro167Leu) NC_000012.12:130163441:C:T p.(Pro167Leu) NC_000012.12:130163441:C:T Identity +NM_001113525.2:c.106C>T NP_001106997.1:p.Leu36Phe NC_000016.10:89721745:C:T p.(Leu36Phe) NC_000016.10:89721745:C:T p.(Leu36Phe) NC_000016.10:89721745:C:T Identity +NM_001130918.3:c.2125G>A NP_001124390.1:p.Ala709Thr NC_000017.11:48770012:C:T p.(Ala709Thr) NC_000017.11:48770012:C:T p.(Ala709Thr) NC_000017.11:48770012:C:T Identity +NM_000186.4:c.2936C>G NP_000177.2:p.Ser979Cys NC_000001.11:196740771:C:G p.(Ser979Cys) NC_000001.11:196740771:C:G p.(Ser979Cys) NC_000001.11:196740771:C:G Identity +NM_024816.3:c.1628G>A NP_079092.2:p.Arg543His NC_000016.10:28905024:C:T p.(Arg543His) NC_000016.10:28905024:C:T p.(Arg543His) NC_000016.10:28905024:C:T Identity +NM_001145474.4:c.39G>C NP_001138946.1:p.Met13Ile NC_000001.11:46672873:G:C p.(Met13Ile) NC_000001.11:46672873:G:C p.(Met13Ile) NC_000001.11:46672873:G:C Identity +NM_015976.5:c.55G>A NP_057060.2:p.Gly19Ser NC_000001.11:98661785:G:A p.(Gly19Ser) NC_000001.11:98661785:G:A p.(Gly19Ser) NC_000001.11:98661785:G:A Identity +NM_001099338.2:c.472G>A NP_001092808.1:p.Gly158Ser NC_000010.11:87228351:G:A p.(Gly158Ser) NC_000010.11:87228351:G:A p.(Gly158Ser) NC_000010.11:87228351:G:A Identity +NM_002729.5:c.441C>A NP_002720.1:p.Asp147Glu NC_000010.11:92692446:C:A p.(Asp147Glu) NC_000010.11:92692446:C:A p.(Asp147Glu) NC_000010.11:92692446:C:A Identity +NM_001018054.3:c.1113G>C NP_001018064.1:p.Gln371His NC_000001.11:53271239:C:G p.(Gln371His) NC_000001.11:53271239:C:G p.(Gln371His) NC_000001.11:53271239:C:G Identity +NM_001316676.2:c.1306G>C NP_001303605.1:p.Gly436Arg NC_000010.11:128070429:G:C p.(Gly436Arg) NC_000010.11:128070429:G:C p.(Gly436Arg) NC_000010.11:128070429:G:C Identity +NM_001010854.2:c.922C>T NP_001010854.1:p.Arg308Trp NC_000014.9:90689567:G:A p.(Arg308Trp) NC_000014.9:90689567:G:A p.(Arg308Trp) NC_000014.9:90689567:G:A Identity +NM_014681.6:c.2536G>A NP_055496.2:p.Ala846Thr NC_000019.10:47376496:G:A p.(Ala846Thr) NC_000019.10:47376496:G:A p.(Ala846Thr) NC_000019.10:47376496:G:A Identity +NM_006782.4:c.713G>A NP_006773.2:p.Arg238Gln NC_000011.10:65087399:G:A p.(Arg238Gln) NC_000011.10:65087399:G:A p.(Arg238Gln) NC_000011.10:65087399:G:A Identity +NM_001081492.2:c.314A>T NP_001074961.1:p.Glu105Val NC_000012.12:52185573:T:A p.(Glu105Val) NC_000012.12:52185573:T:A p.(Glu105Val) NC_000012.12:52185573:T:A Identity +NM_001385028.1:c.332G>A NP_001371957.1:p.Arg111His NC_000015.10:66094463:C:T p.(Arg111His) NC_000015.10:66094463:C:T p.(Arg111His) NC_000015.10:66094463:C:T Identity +NM_001042550.2:c.2225A>G NP_001036015.1:p.Gln742Arg NC_000009.12:104123199:A:G p.(Gln742Arg) NC_000009.12:104123199:A:G p.(Gln742Arg) NC_000009.12:104123199:A:G Identity +NM_144982.5:c.5752C>G NP_659419.3:p.Leu1918Val NC_000012.12:71611074:G:C p.(Leu1918Val) NC_000012.12:71611074:G:C p.(Leu1918Val) NC_000012.12:71611074:G:C Identity +NM_001289058.2:c.1088A>G NP_001275987.1:p.Asn363Ser NC_000011.10:8413627:T:C p.(Asn363Ser) NC_000011.10:8413627:T:C p.(Asn363Ser) NC_000011.10:8413627:T:C Identity +NM_030882.4:c.673C>T NP_112092.2:p.Arg225Cys NC_000022.11:36227744:G:A p.(Arg225Cys) NC_000022.11:36227744:G:A p.(Arg225Cys) NC_000022.11:36227744:G:A Identity +NM_000896.3:c.820C>T NP_000887.2:p.Arg274Trp NC_000019.10:15650084:C:T p.(Arg274Trp) NC_000019.10:15650084:C:T p.(Arg274Trp) NC_000019.10:15650084:C:T Identity +NM_001142531.1:c.640C>T NP_001136003.1:p.Arg214Trp NC_000009.12:127744661:G:A p.(Arg214Trp) NC_000009.12:127744661:G:A p.(Arg214Trp) NC_000009.12:127744661:G:A Identity +NM_006511.3:c.373C>T NP_006502.1:p.Leu125Phe NC_000001.11:15660240:C:T p.(Leu125Phe) NC_000001.11:15660240:C:T p.(Leu125Phe) NC_000001.11:15660240:C:T Identity +NM_001144950.2:c.1726A>G NP_001138422.1:p.Ile576Val NC_000019.10:55499835:A:G p.(Ile576Val) NC_000019.10:55499835:A:G p.(Ile576Val) NC_000019.10:55499835:A:G Identity +NM_001378213.1:c.1078A>G NP_001365142.1:p.Thr360Ala NC_000011.10:118902664:T:C p.(Thr360Ala) NC_000011.10:118902664:T:C p.(Thr360Ala) NC_000011.10:118902664:T:C Identity +NM_017781.3:c.1096C>T NP_060251.2:p.Arg366Cys NC_000007.14:987483:C:T p.(Arg366Cys) NC_000007.14:987483:C:T p.(Arg366Cys) NC_000007.14:987483:C:T Identity +NM_172193.3:c.914G>C NP_751943.1:p.Cys305Ser NC_000014.9:49740114:G:C p.(Cys305Ser) NC_000014.9:49740114:G:C p.(Cys305Ser) NC_000014.9:49740114:G:C Identity +NM_001098537.3:c.2284G>A NP_001092007.2:p.Val762Met NC_000009.12:137484649:C:T p.(Val762Met) NC_000009.12:137484649:C:T p.(Val762Met) NC_000009.12:137484649:C:T Identity +NM_001077594.2:c.682C>A NP_001071062.1:p.Pro228Thr NC_000014.9:103102404:C:A p.(Pro228Thr) NC_000014.9:103102404:C:A p.(Pro228Thr) NC_000014.9:103102404:C:A Identity +NM_198693.4:c.35C>T NP_941966.1:p.Ala12Val NC_000021.9:44551423:G:A p.(Ala12Val) NC_000021.9:44551423:G:A p.(Ala12Val) NC_000021.9:44551423:G:A Identity +NM_000351.7:c.1115G>A NP_000342.3:p.Arg372Gln NC_000023.11:7325371:G:A p.(Arg372Gln) NC_000023.11:7325371:G:A p.(Arg372Gln) NC_000023.11:7325371:G:A Identity +NM_016142.3:c.327T>G NP_057226.1:p.Phe109Leu NC_000011.10:43798362:T:G p.(Phe109Leu) NC_000011.10:43798362:T:G p.(Phe109Leu) NC_000011.10:43798362:T:G Identity +NM_001256045.2:c.1192A>G NP_001242974.1:p.Lys398Glu NC_000003.12:138665051:T:C p.(Lys398Glu) NC_000003.12:138665051:T:C p.(Lys398Glu) NC_000003.12:138665051:T:C Identity +NM_032777.10:c.1706C>T NP_116166.9:p.Pro569Leu NC_000008.11:37835270:C:T p.(Pro569Leu) NC_000008.11:37835270:C:T p.(Pro569Leu) NC_000008.11:37835270:C:T Identity +NM_025205.5:c.17G>C NP_079481.2:p.Gly6Ala NC_000004.12:17614670:G:C p.(Gly6Ala) NC_000004.12:17614670:G:C p.(Gly6Ala) NC_000004.12:17614670:G:C Identity +NM_152721.6:c.980C>A NP_689934.2:p.Ser327Tyr NC_000018.10:69841366:C:A p.(Ser327Tyr) NC_000018.10:69841366:C:A p.(Ser327Tyr) NC_000018.10:69841366:C:A Identity +NM_152903.5:c.1717T>G NP_690867.3:p.Ser573Ala NC_000013.11:41130794:A:C p.(Ser573Ala) NC_000013.11:41130794:A:C p.(Ser573Ala) NC_000013.11:41130794:A:C Identity +NM_005937.4:c.1262C>T NP_005928.2:p.Ala421Val NC_000017.11:38716591:C:T p.(Ala421Val) NC_000017.11:38716591:C:T p.(Ala421Val) NC_000017.11:38716591:C:T Identity +NM_001297588.2:c.446A>G NP_001284517.1:p.Glu149Gly NC_000019.10:43965947:A:G p.(Glu149Gly) NC_000019.10:43965947:A:G p.(Glu149Gly) NC_000019.10:43965947:A:G Identity +NM_001014447.3:c.551G>A NP_001014447.2:p.Arg184His NC_000004.12:8604029:G:A p.(Arg184His) NC_000004.12:8604029:G:A p.(Arg184His) NC_000004.12:8604029:G:A Identity +NM_004398.4:c.602T>G NP_004389.2:p.Leu201Arg NC_000011.10:108678378:T:G p.(Leu201Arg) NC_000011.10:108678378:T:G p.(Leu201Arg) NC_000011.10:108678378:T:G Identity +NM_017581.4:c.188C>T NP_060051.2:p.Thr63Met NC_000004.12:40335949:C:T p.(Thr63Met) NC_000004.12:40335949:C:T p.(Thr63Met) NC_000004.12:40335949:C:T Identity +NM_001371223.1:c.1945G>A NP_001358152.1:p.Gly649Arg NC_000009.12:37740472:G:A p.(Gly649Arg) NC_000009.12:37740472:G:A p.(Gly649Arg) NC_000009.12:37740472:G:A Identity +NM_001297623.3:c.161T>C NP_001284552.1:p.Val54Ala NC_000019.10:36656518:A:G p.(Val54Ala) NC_000019.10:36656518:A:G p.(Val54Ala) NC_000019.10:36656518:A:G Identity +NM_001306080.2:c.3535C>T NP_001293009.1:p.Arg1179Trp NC_000013.11:75840447:C:T p.(Arg1179Trp) NC_000013.11:75840447:C:T p.(Arg1179Trp) NC_000013.11:75840447:C:T Identity +NM_001282771.3:c.520G>A NP_001269700.1:p.Glu174Lys NC_000002.12:240529469:C:T p.(Glu174Lys) NC_000002.12:240529469:C:T p.(Glu174Lys) NC_000002.12:240529469:C:T Identity +NM_003737.4:c.2489G>C NP_003728.1:p.Gly830Ala NC_000011.10:6633022:C:G p.(Gly830Ala) NC_000011.10:6633022:C:G p.(Gly830Ala) NC_000011.10:6633022:C:G Identity +NM_207303.4:c.3674A>G NP_997186.1:p.Asn1225Ser NC_000010.11:115519281:A:G p.(Asn1225Ser) NC_000010.11:115519281:A:G p.(Asn1225Ser) NC_000010.11:115519281:A:G Identity +NM_153610.5:c.6664A>G NP_705838.3:p.Thr2222Ala NC_000005.10:79735428:A:G p.(Thr2222Ala) NC_000005.10:79735428:A:G p.(Thr2222Ala) NC_000005.10:79735428:A:G Identity +NM_001012991.3:c.758C>T NP_001013009.2:p.Pro253Leu NC_000016.10:19714277:G:A p.(Pro253Leu) NC_000016.10:19714277:G:A p.(Pro253Leu) NC_000016.10:19714277:G:A Identity +NM_152308.3:c.430A>G NP_689521.1:p.Arg144Gly NC_000016.10:11350775:A:G p.(Arg144Gly) NC_000016.10:11350775:A:G p.(Arg144Gly) NC_000016.10:11350775:A:G Identity +NM_001319982.2:c.1259C>T NP_001306911.1:p.Pro420Leu NC_000012.12:8221957:G:A p.(Pro420Leu) NC_000012.12:8221957:G:A p.(Pro420Leu) NC_000012.12:8221957:G:A Identity +NM_001362779.2:c.79A>G NP_001349708.1:p.Lys27Glu NC_000007.14:100057084:A:G p.(Lys27Glu) NC_000007.14:100057084:A:G p.(Lys27Glu) NC_000007.14:100057084:A:G Identity +NM_001161546.2:c.2731G>A NP_001155018.1:p.Gly911Arg NC_000005.10:139392350:C:T p.(Gly911Arg) NC_000005.10:139392350:C:T p.(Gly911Arg) NC_000005.10:139392350:C:T Identity +NM_016333.4:c.649A>C NP_057417.3:p.Lys217Gln NC_000016.10:2759039:A:C p.(Lys217Gln) NC_000016.10:2759039:A:C p.(Lys217Gln) NC_000016.10:2759039:A:C Identity +NM_001098525.3:c.821G>T NP_001091995.1:p.Arg274Ile NC_000013.11:52461643:G:T p.(Arg274Ile) NC_000013.11:52461643:G:T p.(Arg274Ile) NC_000013.11:52461643:G:T Identity +NM_001172713.3:c.269G>A NP_001166184.1:p.Arg90Gln NC_000003.12:37281997:G:A p.(Arg90Gln) NC_000003.12:37281997:G:A p.(Arg90Gln) NC_000003.12:37281997:G:A Identity +NM_001206924.2:c.341G>A NP_001193853.2:p.Arg114Gln NC_000003.12:122106473:G:A p.(Arg114Gln) NC_000003.12:122106473:G:A p.(Arg114Gln) NC_000003.12:122106473:G:A Identity +NM_001025356.3:c.1792G>A NP_001020527.2:p.Gly598Ser NC_000012.12:45403447:G:A p.(Gly598Ser) NC_000012.12:45403447:G:A p.(Gly598Ser) NC_000012.12:45403447:G:A Identity +NM_080723.5:c.68G>A NP_542454.3:p.Arg23His NC_000006.12:24134394:G:A p.(Arg23His) NC_000006.12:24134394:G:A p.(Arg23His) NC_000006.12:24134394:G:A Identity +NM_024762.3:c.574A>T NP_079038.2:p.Thr192Ser NC_000019.10:57808689:T:A p.(Thr192Ser) NC_000019.10:57808689:T:A p.(Thr192Ser) NC_000019.10:57808689:T:A Identity +NM_001323599.2:c.1979A>T NP_001310528.1:p.Glu660Val NC_000010.11:29523704:T:A p.(Glu660Val) NC_000010.11:29523704:T:A p.(Glu660Val) NC_000010.11:29523704:T:A Identity +NM_001300883.3:c.1427C>T NP_001287812.1:p.Thr476Met NC_000019.10:9528503:G:A p.(Thr476Met) NC_000019.10:9528503:G:A p.(Thr476Met) NC_000019.10:9528503:G:A Identity +NM_001005504.1:c.455G>C NP_001005504.1:p.Gly152Ala NC_000008.11:166569:C:G p.(Gly152Ala) NC_000008.11:166569:C:G p.(Gly152Ala) NC_000008.11:166569:C:G Identity +NM_152550.4:c.1730C>T NP_689763.4:p.Thr577Met NC_000005.10:146060039:C:T p.(Thr577Met) NC_000005.10:146060039:C:T p.(Thr577Met) NC_000005.10:146060039:C:T Identity +NM_001142640.2:c.4067C>T NP_001136112.2:p.Thr1356Met NC_000017.11:78083134:C:T p.(Thr1356Met) NC_000017.11:78083134:C:T p.(Thr1356Met) NC_000017.11:78083134:C:T Identity +NM_001384347.1:c.1240G>A NP_001371276.1:p.Glu414Lys NC_000020.11:62201041:G:A p.(Glu414Lys) NC_000020.11:62201041:G:A p.(Glu414Lys) NC_000020.11:62201041:G:A Identity +NM_001570.4:c.1717G>T NP_001561.3:p.Ala573Ser NC_000003.12:10238990:G:T p.(Ala573Ser) NC_000003.12:10238990:G:T p.(Ala573Ser) NC_000003.12:10238990:G:T Identity +NM_001202406.1:c.907A>G NP_001189335.1:p.Lys303Glu NC_000019.10:9342165:A:G p.(Lys303Glu) NC_000019.10:9342165:A:G p.(Lys303Glu) NC_000019.10:9342165:A:G Identity +NM_001283014.2:c.481C>T NP_001269943.1:p.Arg161Cys NC_000010.11:73125132:C:T p.(Arg161Cys) NC_000010.11:73125132:C:T p.(Arg161Cys) NC_000010.11:73125132:C:T Identity +NM_001308238.2:c.598C>G NP_001295167.1:p.Arg200Gly NC_000018.10:23619559:G:C p.(Arg200Gly) NC_000018.10:23619559:G:C p.(Arg200Gly) NC_000018.10:23619559:G:C Identity +NM_004259.7:c.2717C>G NP_004250.4:p.Ser906Cys NC_000017.11:75628305:G:C p.(Ser906Cys) NC_000017.11:75628305:G:C p.(Ser906Cys) NC_000017.11:75628305:G:C Identity +NM_001162530.2:c.1480G>A NP_001156002.1:p.Glu494Lys NC_000001.11:36320142:G:A p.(Glu494Lys) NC_000001.11:36320142:G:A p.(Glu494Lys) NC_000001.11:36320142:G:A Identity +NM_001318324.2:c.2972C>T NP_001305253.1:p.Thr991Met NC_000009.12:131174162:C:T p.(Thr991Met) NC_000009.12:131174162:C:T p.(Thr991Met) NC_000009.12:131174162:C:T Identity +NM_001005160.3:c.53G>T NP_001005160.1:p.Gly18Val NC_000011.10:5132589:C:A p.(Gly18Val) NC_000011.10:5132589:C:A p.(Gly18Val) NC_000011.10:5132589:C:A Identity +NM_024114.5:c.147C>G NP_077019.2:p.Ser49Arg NC_000011.10:55265001:C:G p.(Ser49Arg) NC_000011.10:55265001:C:G p.(Ser49Arg) NC_000011.10:55265001:C:G Identity +NM_015033.3:c.1037C>A NP_055848.1:p.Ala346Asp NC_000009.12:129923976:G:T p.(Ala346Asp) NC_000009.12:129923976:G:T p.(Ala346Asp) NC_000009.12:129923976:G:T Identity +NM_001164404.2:c.598C>T NP_001157876.1:p.Arg200Trp NC_000015.10:75265154:C:T p.(Arg200Trp) NC_000015.10:75265154:C:T p.(Arg200Trp) NC_000015.10:75265154:C:T Identity +NM_001170460.2:c.1474G>A NP_001163931.1:p.Asp492Asn NC_000023.11:47227190:G:A p.(Asp492Asn) NC_000023.11:47227190:G:A p.(Asp492Asn) NC_000023.11:47227190:G:A Identity +NM_001318942.1:c.332C>T NP_001305871.1:p.Ala111Val NC_000006.12:43012960:G:A p.(Ala111Val) NC_000006.12:43012960:G:A p.(Ala111Val) NC_000006.12:43012960:G:A Identity +NM_001395848.1:c.439G>A NP_001382777.1:p.Asp147Asn NC_000009.12:89001638:G:A p.(Asp147Asn) NC_000009.12:89001638:G:A p.(Asp147Asn) NC_000009.12:89001638:G:A Identity +NM_001286808.2:c.307G>A NP_001273737.1:p.Gly103Ser NC_000005.10:127524733:G:A p.(Gly103Ser) NC_000005.10:127524733:G:A p.(Gly103Ser) NC_000005.10:127524733:G:A Identity +NM_001271907.2:c.293C>T NP_001258836.1:p.Thr98Met NC_000016.10:89669366:C:T p.(Thr98Met) NC_000016.10:89669366:C:T p.(Thr98Met) NC_000016.10:89669366:C:T Identity +NM_012467.4:c.419G>A NP_036599.4:p.Arg140Gln NC_000016.10:1222743:C:T p.(Arg140Gln) NC_000016.10:1222743:C:T p.(Arg140Gln) NC_000016.10:1222743:C:T Identity +NM_001270546.1:c.3256G>A NP_001257475.1:p.Ala1086Thr NC_000015.10:85735101:G:A p.(Ala1086Thr) NC_000015.10:85735101:G:A p.(Ala1086Thr) NC_000015.10:85735101:G:A Identity +NM_152772.3:c.1095C>G NP_689985.1:p.Ser365Arg NC_000012.12:106336165:C:G p.(Ser365Arg) NC_000012.12:106336165:C:G p.(Ser365Arg) NC_000012.12:106336165:C:G Identity +NM_001145303.3:c.1168C>A NP_001138775.2:p.Leu390Ile NC_000019.10:54163850:G:T p.(Leu390Ile) NC_000019.10:54163850:G:T p.(Leu390Ile) NC_000019.10:54163850:G:T Identity +NM_000706.5:c.241C>G NP_000697.1:p.Arg81Gly NC_000012.12:63150595:G:C p.(Arg81Gly) NC_000012.12:63150595:G:C p.(Arg81Gly) NC_000012.12:63150595:G:C Identity +NM_001145056.2:c.355C>T NP_001138528.1:p.Leu119Phe NC_000019.10:10631304:C:T p.(Leu119Phe) NC_000019.10:10631304:C:T p.(Leu119Phe) NC_000019.10:10631304:C:T Identity +NM_001005189.2:c.637G>T NP_001005189.1:p.Ala213Ser NC_000001.11:158547468:C:A p.(Ala213Ser) NC_000001.11:158547468:C:A p.(Ala213Ser) NC_000001.11:158547468:C:A Identity +NM_001104.4:c.1515G>C NP_001095.2:p.Gln505His NC_000011.10:66560054:G:C p.(Gln505His) NC_000011.10:66560054:G:C p.(Gln505His) NC_000011.10:66560054:G:C Identity +NM_001017930.2:c.476C>T NP_001017930.1:p.Thr159Ile NC_000023.11:27980858:G:A p.(Thr159Ile) NC_000023.11:27980858:G:A p.(Thr159Ile) NC_000023.11:27980858:G:A Identity +NM_001318491.2:c.1147G>A NP_001305420.1:p.Val383Met NC_000013.11:20625753:G:A p.(Val383Met) NC_000013.11:20625753:G:A p.(Val383Met) NC_000013.11:20625753:G:A Identity +NM_001136203.2:c.659A>G NP_001129675.1:p.Asn220Ser NC_000019.10:17943701:A:G p.(Asn220Ser) NC_000019.10:17943701:A:G p.(Asn220Ser) NC_000019.10:17943701:A:G Identity +NM_006453.3:c.2392A>C NP_006444.2:p.Thr798Pro NC_000016.10:1978649:A:C p.(Thr798Pro) NC_000016.10:1978649:A:C p.(Thr798Pro) NC_000016.10:1978649:A:C Identity +NM_001146197.3:c.4708G>A NP_001139669.1:p.Asp1570Asn NC_000013.11:102745988:C:T p.(Asp1570Asn) NC_000013.11:102745988:C:T p.(Asp1570Asn) NC_000013.11:102745988:C:T Identity +NM_001289984.2:c.1786C>G NP_001276913.1:p.Arg596Gly NC_000005.10:134578726:C:G p.(Arg596Gly) NC_000005.10:134578726:C:G p.(Arg596Gly) NC_000005.10:134578726:C:G Identity +NM_001300814.1:c.842G>A NP_001287743.1:p.Arg281Gln NC_000012.12:52839859:C:T p.(Arg281Gln) NC_000012.12:52839859:C:T p.(Arg281Gln) NC_000012.12:52839859:C:T Identity +NM_001388453.1:c.1166G>A NP_001375382.1:p.Arg389His NC_000017.11:76293560:C:T p.(Arg389His) NC_000017.11:76293560:C:T p.(Arg389His) NC_000017.11:76293560:C:T Identity +NM_001034173.4:c.2077C>T NP_001029345.2:p.Leu693Phe NC_000012.12:105038170:G:A p.(Leu693Phe) NC_000012.12:105038170:G:A p.(Leu693Phe) NC_000012.12:105038170:G:A Identity +NM_182700.6:c.979G>A NP_874359.2:p.Ala327Thr NC_000007.14:20784837:C:T p.(Ala327Thr) NC_000007.14:20784837:C:T p.(Ala327Thr) NC_000007.14:20784837:C:T Identity +NM_006825.4:c.128C>A NP_006816.2:p.Pro43Gln NC_000012.12:106247723:G:T p.(Pro43Gln) NC_000012.12:106247723:G:T p.(Pro43Gln) NC_000012.12:106247723:G:T Identity +NM_001173977.2:c.2237C>T NP_001167448.1:p.Ala746Val NC_000006.12:25539986:C:T p.(Ala746Val) NC_000006.12:25539986:C:T p.(Ala746Val) NC_000006.12:25539986:C:T Identity +NM_152701.5:c.15173T>A NP_689914.3:p.Ile5058Asn NC_000007.14:48645507:T:A p.(Ile5058Asn) NC_000007.14:48645507:T:A p.(Ile5058Asn) NC_000007.14:48645507:T:A Identity +NM_016445.3:c.1006G>A NP_057529.1:p.Ala336Thr NC_000014.9:67387384:C:T p.(Ala336Thr) NC_000014.9:67387384:C:T p.(Ala336Thr) NC_000014.9:67387384:C:T Identity +NM_006387.6:c.2378G>A NP_006378.3:p.Arg793His NC_000019.10:16520232:C:T p.(Arg793His) NC_000019.10:16520232:C:T p.(Arg793His) NC_000019.10:16520232:C:T Identity +NM_000578.4:c.1327G>A NP_000569.3:p.Val443Met NC_000002.12:218394131:G:A p.(Val443Met) NC_000002.12:218394131:G:A p.(Val443Met) NC_000002.12:218394131:G:A Identity +NM_022662.4:c.2435C>T NP_073153.1:p.Thr812Met NC_000002.12:111833260:G:A p.(Thr812Met) NC_000002.12:111833260:G:A p.(Thr812Met) NC_000002.12:111833260:G:A Identity +NM_001292033.2:c.634T>C NP_001278962.1:p.Ser212Pro NC_000004.12:185190562:A:G p.(Ser212Pro) NC_000004.12:185190562:A:G p.(Ser212Pro) NC_000004.12:185190562:A:G Identity +NM_001367482.1:c.191T>C NP_001354411.1:p.Phe64Ser NC_000001.11:241660574:T:C p.(Phe64Ser) NC_000001.11:241660574:T:C p.(Phe64Ser) NC_000001.11:241660574:T:C Identity +NM_001100159.3:c.157G>A NP_001093629.1:p.Glu53Lys NC_000007.14:48041434:G:A p.(Glu53Lys) NC_000007.14:48041434:G:A p.(Glu53Lys) NC_000007.14:48041434:G:A Identity +NM_001395513.1:c.433C>G NP_001382442.1:p.Gln145Glu NC_000019.10:2399111:C:G p.(Gln145Glu) NC_000019.10:2399111:C:G p.(Gln145Glu) NC_000019.10:2399111:C:G Identity +NM_001243963.2:c.364C>T NP_001230892.1:p.Arg122Cys NC_000023.11:115188355:G:A p.(Arg122Cys) NC_000023.11:115188355:G:A p.(Arg122Cys) NC_000023.11:115188355:G:A Identity +NM_147180.4:c.196G>A NP_671709.2:p.Gly66Ser NC_000009.12:101594725:C:T p.(Gly66Ser) NC_000009.12:101594725:C:T p.(Gly66Ser) NC_000009.12:101594725:C:T Identity +NM_001135095.2:c.2314G>A NP_001128567.1:p.Ala772Thr NC_000003.12:172346389:G:A p.(Ala772Thr) NC_000003.12:172346389:G:A p.(Ala772Thr) NC_000003.12:172346389:G:A Identity +NM_001286722.2:c.3208G>A NP_001273651.1:p.Ala1070Thr NC_000009.12:93564393:G:A p.(Ala1070Thr) NC_000009.12:93564393:G:A p.(Ala1070Thr) NC_000009.12:93564393:G:A Identity +NM_001011724.3:c.704G>A NP_001011724.1:p.Gly235Asp NC_000013.11:52643195:G:A p.(Gly235Asp) NC_000013.11:52643195:G:A p.(Gly235Asp) NC_000013.11:52643195:G:A Identity +NM_020879.3:c.2569A>G NP_065930.2:p.Lys857Glu NC_000007.14:77293104:A:G p.(Lys857Glu) NC_000007.14:77293104:A:G p.(Lys857Glu) NC_000007.14:77293104:A:G Identity +NM_080740.5:c.692C>G NP_542778.2:p.Ala231Gly NC_000022.11:22514938:G:C p.(Ala231Gly) NC_000022.11:22514938:G:C p.(Ala231Gly) NC_000022.11:22514938:G:C Identity +NM_173628.4:c.11642C>T NP_775899.3:p.Pro3881Leu NC_000017.11:78441085:G:A p.(Pro3881Leu) NC_000017.11:78441085:G:A p.(Pro3881Leu) NC_000017.11:78441085:G:A Identity +NM_014935.5:c.1202G>T NP_055750.2:p.Gly401Val NC_000001.11:204257674:C:A p.(Gly401Val) NC_000001.11:204257674:C:A p.(Gly401Val) NC_000001.11:204257674:C:A Identity +NM_017884.6:c.452A>G NP_060354.4:p.Gln151Arg NC_000008.11:10820211:T:C p.(Gln151Arg) NC_000008.11:10820211:T:C p.(Gln151Arg) NC_000008.11:10820211:T:C Identity +NM_004854.5:c.998G>A NP_004845.1:p.Arg333Gln NC_000002.12:100393317:C:T p.(Arg333Gln) NC_000002.12:100393317:C:T p.(Arg333Gln) NC_000002.12:100393317:C:T Identity +NM_001322246.3:c.2297C>T NP_001309175.1:p.Thr766Met NC_000004.12:61946994:C:T p.(Thr766Met) NC_000004.12:61946994:C:T p.(Thr766Met) NC_000004.12:61946994:C:T Identity +NM_001367810.1:c.2149G>A NP_001354739.1:p.Val717Ile NC_000017.11:27609252:G:A p.(Val717Ile) NC_000017.11:27609252:G:A p.(Val717Ile) NC_000017.11:27609252:G:A Identity +NM_020989.4:c.230G>A NP_066269.1:p.Arg77His NC_000002.12:208129462:C:T p.(Arg77His) NC_000002.12:208129462:C:T p.(Arg77His) NC_000002.12:208129462:C:T Identity +NM_001176.4:c.195C>A NP_001167.2:p.Asp65Glu NC_000016.10:281866:C:A p.(Asp65Glu) NC_000016.10:281866:C:A p.(Asp65Glu) NC_000016.10:281866:C:A Identity +NM_001303447.2:c.191A>C NP_001290376.1:p.Glu64Ala NC_000016.10:11742539:T:G p.(Glu64Ala) NC_000016.10:11742539:T:G p.(Glu64Ala) NC_000016.10:11742539:T:G Identity +NM_001079653.2:c.737C>G NP_001073121.1:p.Pro246Arg NC_000007.14:4208159:C:G p.(Pro246Arg) NC_000007.14:4208159:C:G p.(Pro246Arg) NC_000007.14:4208159:C:G Identity +NM_019120.5:c.2164T>C NP_061993.3:p.Ser722Pro NC_000005.10:141180197:T:C p.(Ser722Pro) NC_000005.10:141180197:T:C p.(Ser722Pro) NC_000005.10:141180197:T:C Identity +NM_001288772.2:c.2629A>C NP_001275701.1:p.Lys877Gln NC_000012.12:18488572:A:C p.(Lys877Gln) NC_000012.12:18488572:A:C p.(Lys877Gln) NC_000012.12:18488572:A:C Identity +NM_181715.3:c.1157C>T NP_859066.1:p.Ser386Phe NC_000001.11:153951506:G:A p.(Ser386Phe) NC_000001.11:153951506:G:A p.(Ser386Phe) NC_000001.11:153951506:G:A Identity +NM_014709.4:c.3440T>C NP_055524.3:p.Met1147Thr NC_000002.12:61314686:A:G p.(Met1147Thr) NC_000002.12:61314686:A:G p.(Met1147Thr) NC_000002.12:61314686:A:G Identity +NM_001349810.2:c.290G>A NP_001336739.1:p.Gly97Glu NC_000008.11:17027568:G:A p.(Gly97Glu) NC_000008.11:17027568:G:A p.(Gly97Glu) NC_000008.11:17027568:G:A Identity +NM_001377430.1:c.2512A>G NP_001364359.1:p.Thr838Ala NC_000001.11:77701434:T:C p.(Thr838Ala) NC_000001.11:77701434:T:C p.(Thr838Ala) NC_000001.11:77701434:T:C Identity +NM_145294.5:c.2296G>A NP_660337.3:p.Val766Met NC_000016.10:656824:G:A p.(Val766Met) NC_000016.10:656824:G:A p.(Val766Met) NC_000016.10:656824:G:A Identity +NM_152573.4:c.1241C>A NP_689786.2:p.Ser414Tyr NC_000009.12:83001091:G:T p.(Ser414Tyr) NC_000009.12:83001091:G:T p.(Ser414Tyr) NC_000009.12:83001091:G:T Identity +NM_001318202.2:c.2797C>T NP_001305131.1:p.Arg933Trp NC_000016.10:67230739:G:A p.(Arg933Trp) NC_000016.10:67230739:G:A p.(Arg933Trp) NC_000016.10:67230739:G:A Identity +NM_001317929.4:c.1749T>G NP_001304858.3:p.His583Gln NC_000001.11:153779346:T:G p.(His583Gln) NC_000001.11:153779346:T:G p.(His583Gln) NC_000001.11:153779346:T:G Identity +NM_001366028.2:c.2387G>A NP_001352957.1:p.Gly796Glu NC_000003.12:57462837:C:T p.(Gly796Glu) NC_000003.12:57462837:C:T p.(Gly796Glu) NC_000003.12:57462837:C:T Identity +NM_001319839.2:c.796G>A NP_001306768.1:p.Gly266Ser NC_000012.12:125107148:G:A p.(Gly266Ser) NC_000012.12:125107148:G:A p.(Gly266Ser) NC_000012.12:125107148:G:A Identity +NM_001164.5:c.472G>A NP_001155.1:p.Glu158Lys NC_000011.10:6410875:C:T p.(Glu158Lys) NC_000011.10:6410875:C:T p.(Glu158Lys) NC_000011.10:6410875:C:T Identity +NM_001202439.3:c.107A>G NP_001189368.1:p.Gln36Arg NC_000011.10:17356686:A:G p.(Gln36Arg) NC_000011.10:17356686:A:G p.(Gln36Arg) NC_000011.10:17356686:A:G Identity +NM_015692.5:c.3682G>A NP_056507.3:p.Val1228Met NC_000019.10:16914760:C:T p.(Val1228Met) NC_000019.10:16914760:C:T p.(Val1228Met) NC_000019.10:16914760:C:T Identity +NM_002586.5:c.1064T>C NP_002577.2:p.Met355Thr NC_000006.12:32186861:A:G p.(Met355Thr) NC_000006.12:32186861:A:G p.(Met355Thr) NC_000006.12:32186861:A:G Identity +NM_001040078.3:c.979G>A NP_001035167.2:p.Val327Met NC_000017.11:18494274:G:A p.(Val327Met) NC_000017.11:18494274:G:A p.(Val327Met) NC_000017.11:18494274:G:A Identity +NM_001324310.2:c.104G>A NP_001311239.1:p.Arg35Gln NC_000001.11:179043950:G:A p.(Arg35Gln) NC_000001.11:179043950:G:A p.(Arg35Gln) NC_000001.11:179043950:G:A Identity +NM_001251977.2:c.461C>T NP_001238906.1:p.Pro154Leu NC_000001.11:24533173:C:T p.(Pro154Leu) NC_000001.11:24533173:C:T p.(Pro154Leu) NC_000001.11:24533173:C:T Identity +NM_012131.3:c.520G>C NP_036263.1:p.Val174Leu NC_000021.9:30166097:C:G p.(Val174Leu) NC_000021.9:30166097:C:G p.(Val174Leu) NC_000021.9:30166097:C:G Identity +NM_173821.3:c.323C>T NP_776182.2:p.Pro108Leu NC_000002.12:241871877:C:T p.(Pro108Leu) NC_000002.12:241871877:C:T p.(Pro108Leu) NC_000002.12:241871877:C:T Identity +NM_001170750.2:c.1030C>A NP_001164221.1:p.Gln344Lys NC_000023.11:38154582:G:T p.(Gln344Lys) NC_000023.11:38154582:G:T p.(Gln344Lys) NC_000023.11:38154582:G:T Identity +NM_001316897.2:c.34G>A NP_001303826.1:p.Glu12Lys NC_000009.12:132883980:G:A p.(Glu12Lys) NC_000009.12:132883980:G:A p.(Glu12Lys) NC_000009.12:132883980:G:A Identity +NM_001079692.3:c.479A>G NP_001073160.1:p.Asn160Ser NC_000011.10:60415497:A:G p.(Asn160Ser) NC_000011.10:60415497:A:G p.(Asn160Ser) NC_000011.10:60415497:A:G Identity +NM_001346445.2:c.15977C>T NP_001333374.1:p.Ala5326Val NC_000011.10:62518439:G:A p.(Ala5326Val) NC_000011.10:62518439:G:A p.(Ala5326Val) NC_000011.10:62518439:G:A Identity +NM_001301668.3:c.978T>G NP_001288597.1:p.Ser326Arg NC_000008.11:102829862:A:C p.(Ser326Arg) NC_000008.11:102829862:A:C p.(Ser326Arg) NC_000008.11:102829862:A:C Identity +NM_020877.5:c.8583G>C NP_065928.2:p.Gln2861His NC_000017.11:7799125:G:C p.(Gln2861His) NC_000017.11:7799125:G:C p.(Gln2861His) NC_000017.11:7799125:G:C Identity +NM_001284498.2:c.1210G>A NP_001271427.1:p.Glu404Lys NC_000017.11:1585931:C:T p.(Glu404Lys) NC_000017.11:1585931:C:T p.(Glu404Lys) NC_000017.11:1585931:C:T Identity +NM_001127.4:c.1537G>T NP_001118.3:p.Asp513Tyr NC_000022.11:29341759:C:A p.(Asp513Tyr) NC_000022.11:29341759:C:A p.(Asp513Tyr) NC_000022.11:29341759:C:A Identity +NM_001350989.2:c.547G>A NP_001337918.1:p.Ala183Thr NC_000010.11:102729761:G:A p.(Ala183Thr) NC_000010.11:102729761:G:A p.(Ala183Thr) NC_000010.11:102729761:G:A Identity +NM_001348.3:c.509C>T NP_001339.1:p.Ala170Val NC_000019.10:3964287:G:A p.(Ala170Val) NC_000019.10:3964287:G:A p.(Ala170Val) NC_000019.10:3964287:G:A Identity +NM_003478.6:c.758G>A NP_003469.2:p.Arg253Gln NC_000011.10:108054932:G:A p.(Arg253Gln) NC_000011.10:108054932:G:A p.(Arg253Gln) NC_000011.10:108054932:G:A Identity +NM_001008395.4:c.160C>T NP_001008396.1:p.Arg54Trp NC_000007.14:100153474:C:T p.(Arg54Trp) NC_000007.14:100153474:C:T p.(Arg54Trp) NC_000007.14:100153474:C:T Identity +NM_024669.3:c.377A>G NP_078945.2:p.Asn126Ser NC_000005.10:56170738:T:C p.(Asn126Ser) NC_000005.10:56170738:T:C p.(Asn126Ser) NC_000005.10:56170738:T:C Identity +NM_001001895.3:c.22C>A NP_001001895.1:p.Leu8Ile NC_000021.9:42403966:C:A p.(Leu8Ile) NC_000021.9:42403966:C:A p.(Leu8Ile) NC_000021.9:42403966:C:A Identity +NM_001195234.1:c.274A>C NP_001182163.1:p.Met92Leu NC_000011.10:90035484:A:C p.(Met92Leu) NC_000011.10:90035484:A:C p.(Met92Leu) NC_000011.10:90035484:A:C Identity +NM_001384546.1:c.1165A>C NP_001371475.1:p.Ser389Arg NC_000006.12:155130387:A:C p.(Ser389Arg) NC_000006.12:155130387:A:C p.(Ser389Arg) NC_000006.12:155130387:A:C Identity +NM_022104.4:c.24C>G NP_071387.1:p.Ser8Arg NC_000020.11:45939022:C:G p.(Ser8Arg) NC_000020.11:45939022:C:G p.(Ser8Arg) NC_000020.11:45939022:C:G Identity +NM_001099695.2:c.1471G>C NP_001093165.1:p.Glu491Gln NC_000007.14:150372540:G:C p.(Glu491Gln) NC_000007.14:150372540:G:C p.(Glu491Gln) NC_000007.14:150372540:G:C Identity +NM_032036.3:c.281C>G NP_114425.1:p.Pro94Arg NC_000014.9:94127910:G:C p.(Pro94Arg) NC_000014.9:94127910:G:C p.(Pro94Arg) NC_000014.9:94127910:G:C Identity +NM_001286559.2:c.218G>A NP_001273488.1:p.Arg73His NC_000002.12:94874825:G:A p.(Arg73His) NC_000002.12:94874825:G:A p.(Arg73His) NC_000002.12:94874825:G:A Identity +NM_001098531.4:c.191G>A NP_001092001.2:p.Arg64His NC_000012.12:47757893:C:T p.(Arg64His) NC_000012.12:47757893:C:T p.(Arg64His) NC_000012.12:47757893:C:T Identity +NM_001001669.3:c.1400C>T NP_001001669.2:p.Thr467Met NC_000005.10:149624075:C:T p.(Thr467Met) NC_000005.10:149624075:C:T p.(Thr467Met) NC_000005.10:149624075:C:T Identity +NM_001145018.3:c.410G>A NP_001138490.1:p.Arg137Gln NC_000011.10:119190779:C:T p.(Arg137Gln) NC_000011.10:119190779:C:T p.(Arg137Gln) NC_000011.10:119190779:C:T Identity +NM_004719.3:c.890A>C NP_004710.2:p.Glu297Ala NC_000012.12:45928810:T:G p.(Glu297Ala) NC_000012.12:45928810:T:G p.(Glu297Ala) NC_000012.12:45928810:T:G Identity +NM_001252338.2:c.1142G>A NP_001239267.1:p.Arg381Gln NC_000020.11:61910485:G:A p.(Arg381Gln) NC_000020.11:61910485:G:A p.(Arg381Gln) NC_000020.11:61910485:G:A Identity +NM_020877.5:c.4850T>C NP_065928.2:p.Met1617Thr NC_000017.11:7776051:T:C p.(Met1617Thr) NC_000017.11:7776051:T:C p.(Met1617Thr) NC_000017.11:7776051:T:C Identity +NM_002214.3:c.1602C>G NP_002205.1:p.His534Gln NC_000007.14:20402040:C:G p.(His534Gln) NC_000007.14:20402040:C:G p.(His534Gln) NC_000007.14:20402040:C:G Identity +NM_017799.4:c.685G>A NP_060269.3:p.Gly229Ser NC_000014.9:56609153:G:A p.(Gly229Ser) NC_000014.9:56609153:G:A p.(Gly229Ser) NC_000014.9:56609153:G:A Identity +NM_007039.4:c.2827A>G NP_008970.2:p.Thr943Ala NC_000014.9:88472287:T:C p.(Thr943Ala) NC_000014.9:88472287:T:C p.(Thr943Ala) NC_000014.9:88472287:T:C Identity +NM_001316349.2:c.3733G>A NP_001303278.1:p.Val1245Met NC_000002.12:137620659:G:A p.(Val1245Met) NC_000002.12:137620659:G:A p.(Val1245Met) NC_000002.12:137620659:G:A Identity +NM_001010889.2:c.347G>T NP_001010889.1:p.Trp116Leu NC_000001.11:12941505:C:A p.(Trp116Leu) NC_000001.11:12941505:C:A p.(Trp116Leu) NC_000001.11:12941505:C:A Identity +NM_032109.3:c.594C>A NP_115485.1:p.Ser198Arg NC_000005.10:77630647:G:T p.(Ser198Arg) NC_000005.10:77630647:G:T p.(Ser198Arg) NC_000005.10:77630647:G:T Identity +NM_001388405.1:c.919C>T NP_001375334.1:p.Arg307Trp NC_000017.11:6109675:C:T p.(Arg307Trp) NC_000017.11:6109675:C:T p.(Arg307Trp) NC_000017.11:6109675:C:T Identity +NM_024119.3:c.1313C>A NP_077024.2:p.Thr438Lys NC_000017.11:42105105:G:T p.(Thr438Lys) NC_000017.11:42105105:G:T p.(Thr438Lys) NC_000017.11:42105105:G:T Identity +NM_181809.4:c.1010C>T NP_861525.2:p.Pro337Leu NC_000001.11:39523067:C:T p.(Pro337Leu) NC_000001.11:39523067:C:T p.(Pro337Leu) NC_000001.11:39523067:C:T Identity +NM_005999.3:c.751G>A NP_005990.1:p.Ala251Thr NC_000001.11:231564782:G:A p.(Ala251Thr) NC_000001.11:231564782:G:A p.(Ala251Thr) NC_000001.11:231564782:G:A Identity +NM_001352095.2:c.1751T>A NP_001339024.1:p.Met584Lys NC_000012.12:95300227:T:A p.(Met584Lys) NC_000012.12:95300227:T:A p.(Met584Lys) NC_000012.12:95300227:T:A Identity +NM_001004482.1:c.636A>C NP_001004482.1:p.Leu212Phe NC_000009.12:104598777:T:G p.(Leu212Phe) NC_000009.12:104598777:T:G p.(Leu212Phe) NC_000009.12:104598777:T:G Identity +NM_001146698.2:c.2585G>A NP_001140170.1:p.Arg862His NC_000012.12:113858869:C:T p.(Arg862His) NC_000012.12:113858869:C:T p.(Arg862His) NC_000012.12:113858869:C:T Identity +NM_001388022.1:c.3751C>T NP_001374951.1:p.Arg1251Trp NC_000011.10:8619531:G:A p.(Arg1251Trp) NC_000011.10:8619531:G:A p.(Arg1251Trp) NC_000011.10:8619531:G:A Identity +NM_001415871.1:c.2513C>A NP_001402800.1:p.Pro838His NC_000002.12:108758458:C:A p.(Pro838His) NC_000002.12:108758458:C:A p.(Pro838His) NC_000002.12:108758458:C:A Identity +NM_001005184.2:c.454T>A NP_001005184.2:p.Ser152Thr NC_000001.11:158755340:T:A p.(Ser152Thr) NC_000001.11:158755340:T:A p.(Ser152Thr) NC_000001.11:158755340:T:A Identity +NM_138961.3:c.344G>T NP_620411.2:p.Gly115Val NC_000011.10:124756647:C:A p.(Gly115Val) NC_000011.10:124756647:C:A p.(Gly115Val) NC_000011.10:124756647:C:A Identity +NM_001304437.2:c.1036C>T NP_001291366.1:p.Arg346Cys NC_000006.12:82957328:G:A p.(Arg346Cys) NC_000006.12:82957328:G:A p.(Arg346Cys) NC_000006.12:82957328:G:A Identity +NM_001010972.2:c.1028G>A NP_001010972.1:p.Arg343His NC_000007.14:143388222:G:A p.(Arg343His) NC_000007.14:143388222:G:A p.(Arg343His) NC_000007.14:143388222:G:A Identity +NM_207371.4:c.2249C>G NP_997254.3:p.Pro750Arg NC_000010.11:21515573:G:C p.(Pro750Arg) NC_000010.11:21515573:G:C p.(Pro750Arg) NC_000010.11:21515573:G:C Identity +NM_001316345.2:c.2011G>A NP_001303274.1:p.Val671Ile NC_000009.12:36118897:G:A p.(Val671Ile) NC_000009.12:36118897:G:A p.(Val671Ile) NC_000009.12:36118897:G:A Identity +NM_017840.4:c.542A>G NP_060310.1:p.His181Arg NC_000011.10:59806560:T:C p.(His181Arg) NC_000011.10:59806560:T:C p.(His181Arg) NC_000011.10:59806560:T:C Identity +NM_001080434.2:c.1284C>G NP_001073903.2:p.Asp428Glu NC_000019.10:48499784:G:C p.(Asp428Glu) NC_000019.10:48499784:G:C p.(Asp428Glu) NC_000019.10:48499784:G:C Identity +NM_005958.4:c.1033G>A NP_005949.1:p.Val345Ile NC_000004.12:186533708:C:T p.(Val345Ile) NC_000004.12:186533708:C:T p.(Val345Ile) NC_000004.12:186533708:C:T Identity +NM_001080428.3:c.7198G>A NP_001073897.2:p.Gly2400Ser NC_000005.10:168262399:G:A p.(Gly2400Ser) NC_000005.10:168262399:G:A p.(Gly2400Ser) NC_000005.10:168262399:G:A Identity +NM_001001344.3:c.1736T>C NP_001001344.1:p.Val579Ala NC_000023.11:153550198:T:C p.(Val579Ala) NC_000023.11:153550198:T:C p.(Val579Ala) NC_000023.11:153550198:T:C Identity +NM_153230.3:c.889C>T NP_694962.1:p.Arg297Cys NC_000017.11:6780756:C:T p.(Arg297Cys) NC_000017.11:6780756:C:T p.(Arg297Cys) NC_000017.11:6780756:C:T Identity +NM_021095.4:c.1887C>G NP_066918.2:p.Ile629Met NC_000002.12:27200456:G:C p.(Ile629Met) NC_000002.12:27200456:G:C p.(Ile629Met) NC_000002.12:27200456:G:C Identity +NM_001134437.2:c.1775C>G NP_001127909.1:p.Ser592Cys NC_000003.12:111913676:C:G p.(Ser592Cys) NC_000003.12:111913676:C:G p.(Ser592Cys) NC_000003.12:111913676:C:G Identity +NM_001040134.2:c.742C>T NP_001035224.1:p.Pro248Ser NC_000019.10:746523:C:T p.(Pro248Ser) NC_000019.10:746523:C:T p.(Pro248Ser) NC_000019.10:746523:C:T Identity +NM_022575.4:c.1102C>T NP_072097.2:p.Arg368Trp NC_000020.11:2862608:C:T p.(Arg368Trp) NC_000020.11:2862608:C:T p.(Arg368Trp) NC_000020.11:2862608:C:T Identity +NM_000635.4:c.1225G>A NP_000626.2:p.Gly409Ser NC_000019.10:6007711:C:T p.(Gly409Ser) NC_000019.10:6007711:C:T p.(Gly409Ser) NC_000019.10:6007711:C:T Identity +NM_001414174.1:c.6689G>A NP_001401103.1:p.Ser2230Asn NC_000012.12:26436297:C:T p.(Ser2230Asn) NC_000012.12:26436297:C:T p.(Ser2230Asn) NC_000012.12:26436297:C:T Identity +NM_001270384.2:c.379A>G NP_001257313.1:p.Ser127Gly NC_000001.11:77803274:A:G p.(Ser127Gly) NC_000001.11:77803274:A:G p.(Ser127Gly) NC_000001.11:77803274:A:G Identity +NM_001937.5:c.175G>A NP_001928.2:p.Val59Met NC_000001.11:168728999:C:T p.(Val59Met) NC_000001.11:168728999:C:T p.(Val59Met) NC_000001.11:168728999:C:T Identity +NM_001164664.2:c.692G>A NP_001158136.1:p.Arg231Gln NC_000005.10:67054420:G:A p.(Arg231Gln) NC_000005.10:67054420:G:A p.(Arg231Gln) NC_000005.10:67054420:G:A Identity +NM_001031618.3:c.442T>G NP_001026789.2:p.Trp148Gly NC_000007.14:102555961:T:G p.(Trp148Gly) NC_000007.14:102555961:T:G p.(Trp148Gly) NC_000007.14:102555961:T:G Identity +NM_001281476.3:c.2039C>T NP_001268405.1:p.Thr680Met NC_000002.12:169537246:G:A p.(Thr680Met) NC_000002.12:169537246:G:A p.(Thr680Met) NC_000002.12:169537246:G:A Identity +NM_001124758.3:c.220A>C NP_001118230.1:p.Thr74Pro NC_000017.11:4499266:A:C p.(Thr74Pro) NC_000017.11:4499266:A:C p.(Thr74Pro) NC_000017.11:4499266:A:C Identity +NM_001284527.2:c.727A>T NP_001271456.1:p.Arg243Trp NC_000016.10:3390033:T:A p.(Arg243Trp) NC_000016.10:3390033:T:A p.(Arg243Trp) NC_000016.10:3390033:T:A Identity +NM_013451.4:c.4661C>T NP_038479.1:p.Thr1554Met NC_000010.11:93333815:G:A p.(Thr1554Met) NC_000010.11:93333815:G:A p.(Thr1554Met) NC_000010.11:93333815:G:A Identity +NM_006507.4:c.163G>A NP_006498.1:p.Glu55Lys NC_000002.12:79086831:C:T p.(Glu55Lys) NC_000002.12:79086831:C:T p.(Glu55Lys) NC_000002.12:79086831:C:T Identity +NM_000354.6:c.881G>A NP_000345.2:p.Arg294His NC_000023.11:106035126:C:T p.(Arg294His) NC_000023.11:106035126:C:T p.(Arg294His) NC_000023.11:106035126:C:T Identity +NM_020202.5:c.401C>T NP_064587.1:p.Pro134Leu NC_000003.12:100345648:C:T p.(Pro134Leu) NC_000003.12:100345648:C:T p.(Pro134Leu) NC_000003.12:100345648:C:T Identity +NM_015030.2:c.5864G>A NP_055845.1:p.Arg1955Gln NC_000004.12:48540783:C:T p.(Arg1955Gln) NC_000004.12:48540783:C:T p.(Arg1955Gln) NC_000004.12:48540783:C:T Identity +NM_001253727.2:c.819G>A NP_001240656.1:p.Met273Ile NC_000004.12:158617187:G:A p.(Met273Ile) NC_000004.12:158617187:G:A p.(Met273Ile) NC_000004.12:158617187:G:A Identity +NM_001320178.2:c.1415G>A NP_001307107.1:p.Arg472His NC_000001.11:40495889:G:A p.(Arg472His) NC_000001.11:40495889:G:A p.(Arg472His) NC_000001.11:40495889:G:A Identity +NM_001164527.1:c.185T>C NP_001157999.1:p.Leu62Pro NC_000019.10:58061694:T:C p.(Leu62Pro) NC_000019.10:58061694:T:C p.(Leu62Pro) NC_000019.10:58061694:T:C Identity +NM_001100411.3:c.1826T>C NP_001093881.1:p.Leu609Pro NC_000006.12:118980252:A:G p.(Leu609Pro) NC_000006.12:118980252:A:G p.(Leu609Pro) NC_000006.12:118980252:A:G Identity +NM_001080487.4:c.232G>C NP_001073956.2:p.Ala78Pro NC_000016.10:88866374:C:G p.(Ala78Pro) NC_000016.10:88866374:C:G p.(Ala78Pro) NC_000016.10:88866374:C:G Identity +NM_001079669.4:c.457G>A NP_001073137.1:p.Ala153Thr NC_000013.11:100663001:C:T p.(Ala153Thr) NC_000013.11:100663001:C:T p.(Ala153Thr) NC_000013.11:100663001:C:T Identity +NM_001330425.3:c.394T>C NP_001317354.1:p.Tyr132His NC_000002.12:71073561:T:C p.(Tyr132His) NC_000002.12:71073561:T:C p.(Tyr132His) NC_000002.12:71073561:T:C Identity +NM_016134.4:c.619G>A NP_057218.1:p.Val207Met NC_000008.11:96835157:G:A p.(Val207Met) NC_000008.11:96835157:G:A p.(Val207Met) NC_000008.11:96835157:G:A Identity +NM_052852.4:c.1198C>T NP_443084.2:p.His400Tyr NC_000019.10:20197907:C:T p.(His400Tyr) NC_000019.10:20197907:C:T p.(His400Tyr) NC_000019.10:20197907:C:T Identity +NM_001103184.4:c.1145G>T NP_001096654.1:p.Gly382Val NC_000015.10:33066739:C:A p.(Gly382Val) NC_000015.10:33066739:C:A p.(Gly382Val) NC_000015.10:33066739:C:A Identity +NM_012465.4:c.875C>T NP_036597.1:p.Thr292Ile NC_000010.11:96421003:G:A p.(Thr292Ile) NC_000010.11:96421003:G:A p.(Thr292Ile) NC_000010.11:96421003:G:A Identity +NM_001170790.2:c.980G>A NP_001164261.1:p.Arg327Gln NC_000012.12:53253493:G:A p.(Arg327Gln) NC_000012.12:53253493:G:A p.(Arg327Gln) NC_000012.12:53253493:G:A Identity +NM_001080428.3:c.2246A>T NP_001073897.2:p.His749Leu NC_000005.10:168198893:A:T p.(His749Leu) NC_000005.10:168198893:A:T p.(His749Leu) NC_000005.10:168198893:A:T Identity +NM_001001674.2:c.306C>A NP_001001674.1:p.Phe102Leu NC_000015.10:101818491:C:A p.(Phe102Leu) NC_000015.10:101818491:C:A p.(Phe102Leu) NC_000015.10:101818491:C:A Identity +NM_001286609.2:c.973G>A NP_001273538.1:p.Val325Ile NC_000006.12:108928204:G:A p.(Val325Ile) NC_000006.12:108928204:G:A p.(Val325Ile) NC_000006.12:108928204:G:A Identity +NM_173814.6:c.2090A>T NP_776175.2:p.Asp697Val NC_000015.10:55641159:T:A p.(Asp697Val) NC_000015.10:55641159:T:A p.(Asp697Val) NC_000015.10:55641159:T:A Identity +NM_025235.4:c.74C>T NP_079511.1:p.Ala25Val NC_000010.11:91798763:C:T p.(Ala25Val) NC_000010.11:91798763:C:T p.(Ala25Val) NC_000010.11:91798763:C:T Identity +NM_001287497.2:c.334T>G NP_001274426.1:p.Ser112Ala NC_000007.14:112784491:A:C p.(Ser112Ala) NC_000007.14:112784491:A:C p.(Ser112Ala) NC_000007.14:112784491:A:C Identity +NM_001143888.3:c.740G>T NP_001137360.1:p.Gly247Val NC_000001.11:32376728:C:A p.(Gly247Val) NC_000001.11:32376728:C:A p.(Gly247Val) NC_000001.11:32376728:C:A Identity +NM_016545.5:c.955C>T NP_057629.2:p.Pro319Ser NC_000001.11:181089856:C:T p.(Pro319Ser) NC_000001.11:181089856:C:T p.(Pro319Ser) NC_000001.11:181089856:C:T Identity +NM_025248.3:c.40C>G NP_079524.2:p.Pro14Ala NC_000017.11:38578773:G:C p.(Pro14Ala) NC_000017.11:38578773:G:C p.(Pro14Ala) NC_000017.11:38578773:G:C Identity +NM_001354726.2:c.671C>T NP_001341655.1:p.Pro224Leu NC_000003.12:14158632:G:A p.(Pro224Leu) NC_000003.12:14158632:G:A p.(Pro224Leu) NC_000003.12:14158632:G:A Identity +NM_001009566.3:c.2131G>A NP_001009566.1:p.Glu711Lys NC_000001.11:9734121:C:T p.(Glu711Lys) NC_000001.11:9734121:C:T p.(Glu711Lys) NC_000001.11:9734121:C:T Identity +NM_001242692.2:c.1940A>G NP_001229621.1:p.Asn647Ser NC_000018.10:45668380:A:G p.(Asn647Ser) NC_000018.10:45668380:A:G p.(Asn647Ser) NC_000018.10:45668380:A:G Identity +NM_001103175.2:c.283C>T NP_001096645.1:p.Arg95Trp NC_000016.10:3031149:G:A p.(Arg95Trp) NC_000016.10:3031149:G:A p.(Arg95Trp) NC_000016.10:3031149:G:A Identity +NM_001261463.2:c.2441G>A NP_001248392.1:p.Arg814Lys NC_000010.11:113623544:C:T p.(Arg814Lys) NC_000010.11:113623544:C:T p.(Arg814Lys) NC_000010.11:113623544:C:T Identity +NM_006571.4:c.428T>C NP_006562.1:p.Ile143Thr NC_000008.11:30180583:T:C p.(Ile143Thr) NC_000008.11:30180583:T:C p.(Ile143Thr) NC_000008.11:30180583:T:C Identity +NM_001330152.2:c.778G>A NP_001317081.1:p.Val260Ile NC_000017.11:19958112:C:T p.(Val260Ile) NC_000017.11:19958112:C:T p.(Val260Ile) NC_000017.11:19958112:C:T Identity +NM_001308157.2:c.399G>C NP_001295086.1:p.Glu133Asp NC_000016.10:19183606:G:C p.(Glu133Asp) NC_000016.10:19183606:G:C p.(Glu133Asp) NC_000016.10:19183606:G:C Identity +NM_001160183.3:c.346C>T NP_001153655.1:p.Leu116Phe NC_000007.14:64831450:C:T p.(Leu116Phe) NC_000007.14:64831450:C:T p.(Leu116Phe) NC_000007.14:64831450:C:T Identity +NM_001306129.2:c.2786C>T NP_001293058.2:p.Pro929Leu NC_000002.12:215406437:G:A p.(Pro929Leu) NC_000002.12:215406437:G:A p.(Pro929Leu) NC_000002.12:215406437:G:A Identity +NM_001010938.2:c.2633G>A NP_001010938.2:p.Arg878Gln NC_000003.12:195867736:C:T p.(Arg878Gln) NC_000003.12:195867736:C:T p.(Arg878Gln) NC_000003.12:195867736:C:T Identity +NM_015419.4:c.4136C>T NP_056234.2:p.Thr1379Ile NC_000023.11:3321548:G:A p.(Thr1379Ile) NC_000023.11:3321548:G:A p.(Thr1379Ile) NC_000023.11:3321548:G:A Identity +NM_012334.3:c.5564A>T NP_036466.2:p.Tyr1855Phe NC_000005.10:16670844:T:A p.(Tyr1855Phe) NC_000005.10:16670844:T:A p.(Tyr1855Phe) NC_000005.10:16670844:T:A Identity +NM_001199847.2:c.647A>T NP_001186776.1:p.Asp216Val NC_000007.14:99052278:T:A p.(Asp216Val) NC_000007.14:99052278:T:A p.(Asp216Val) NC_000007.14:99052278:T:A Identity +NM_001278209.2:c.2041A>G NP_001265138.1:p.Ile681Val NC_000006.12:17637668:T:C p.(Ile681Val) NC_000006.12:17637668:T:C p.(Ile681Val) NC_000006.12:17637668:T:C Identity +NM_004274.5:c.5131A>T NP_004265.3:p.Ile1711Phe NC_000014.9:32822943:A:T p.(Ile1711Phe) NC_000014.9:32822943:A:T p.(Ile1711Phe) NC_000014.9:32822943:A:T Identity +NM_080283.4:c.844G>A NP_525022.2:p.Ala282Thr NC_000017.11:69035757:C:T p.(Ala282Thr) NC_000017.11:69035757:C:T p.(Ala282Thr) NC_000017.11:69035757:C:T Identity +NM_001307955.1:c.143C>T NP_001294884.1:p.Pro48Leu NC_000018.10:54591337:C:T p.(Pro48Leu) NC_000018.10:54591337:C:T p.(Pro48Leu) NC_000018.10:54591337:C:T Identity +NM_001271082.2:c.350C>T NP_001258011.1:p.Ser117Leu NC_000005.10:1034253:C:T p.(Ser117Leu) NC_000005.10:1034253:C:T p.(Ser117Leu) NC_000005.10:1034253:C:T Identity +NM_018924.5:c.1528C>T NP_061747.2:p.Arg510Trp NC_000005.10:141371921:C:T p.(Arg510Trp) NC_000005.10:141371921:C:T p.(Arg510Trp) NC_000005.10:141371921:C:T Identity +NM_001410991.1:c.5360C>T NP_001397920.1:p.Thr1787Ile NC_000009.12:115031566:G:A p.(Thr1787Ile) NC_000009.12:115031566:G:A p.(Thr1787Ile) NC_000009.12:115031566:G:A Identity +NM_001386109.1:c.1237C>T NP_001373038.1:p.Arg413Cys NC_000001.11:103577735:C:T p.(Arg413Cys) NC_000001.11:103577735:C:T p.(Arg413Cys) NC_000001.11:103577735:C:T Identity +NM_001164399.2:c.2342C>A NP_001157871.1:p.Pro781Gln NC_000014.9:59505278:G:T p.(Pro781Gln) NC_000014.9:59505278:G:T p.(Pro781Gln) NC_000014.9:59505278:G:T Identity +NM_001317993.2:c.1127C>T NP_001304922.1:p.Ala376Val NC_000005.10:154002379:G:A p.(Ala376Val) NC_000005.10:154002379:G:A p.(Ala376Val) NC_000005.10:154002379:G:A Identity +NM_182628.3:c.1469G>A NP_872434.2:p.Arg490Gln NC_000003.12:126434221:G:A p.(Arg490Gln) NC_000003.12:126434221:G:A p.(Arg490Gln) NC_000003.12:126434221:G:A Identity +NM_018714.3:c.1781A>G NP_061184.1:p.Glu594Gly NC_000017.11:73201607:A:G p.(Glu594Gly) NC_000017.11:73201607:A:G p.(Glu594Gly) NC_000017.11:73201607:A:G Identity +NM_007191.5:c.82G>A NP_009122.2:p.Ala28Thr NC_000012.12:65121109:C:T p.(Ala28Thr) NC_000012.12:65121109:C:T p.(Ala28Thr) NC_000012.12:65121109:C:T Identity +NM_138392.4:c.382G>T NP_612401.2:p.Gly128Cys NC_000019.10:40578523:G:T p.(Gly128Cys) NC_000019.10:40578523:G:T p.(Gly128Cys) NC_000019.10:40578523:G:T Identity +NM_001127229.2:c.342G>C NP_001120701.1:p.Gln114His NC_000001.11:1374155:C:G p.(Gln114His) NC_000001.11:1374155:C:G p.(Gln114His) NC_000001.11:1374155:C:G Identity +NM_001199096.2:c.646G>A NP_001186025.1:p.Gly216Ser NC_000016.10:1341403:G:A p.(Gly216Ser) NC_000016.10:1341403:G:A p.(Gly216Ser) NC_000016.10:1341403:G:A Identity +NM_206920.3:c.2027G>A NP_996803.2:p.Arg676Gln NC_000009.12:136857218:G:A p.(Arg676Gln) NC_000009.12:136857218:G:A p.(Arg676Gln) NC_000009.12:136857218:G:A Identity +NM_001257199.2:c.490C>T NP_001244128.1:p.Arg164Cys NC_000012.12:50106863:C:T p.(Arg164Cys) NC_000012.12:50106863:C:T p.(Arg164Cys) NC_000012.12:50106863:C:T Identity +NM_001135768.3:c.206A>G NP_001129240.1:p.His69Arg NC_000019.10:44647348:A:G p.(His69Arg) NC_000019.10:44647348:A:G p.(His69Arg) NC_000019.10:44647348:A:G Identity +NM_001297434.2:c.1711T>A NP_001284363.1:p.Trp571Arg NC_000001.11:37868598:A:T p.(Trp571Arg) NC_000001.11:37868598:A:T p.(Trp571Arg) NC_000001.11:37868598:A:T Identity +NM_001166695.3:c.1454A>G NP_001160167.1:p.Asn485Ser NC_000005.10:36686228:A:G p.(Asn485Ser) NC_000005.10:36686228:A:G p.(Asn485Ser) NC_000005.10:36686228:A:G Identity +NM_018429.3:c.675T>G NP_060899.2:p.Ser225Arg NC_000005.10:71466110:T:G p.(Ser225Arg) NC_000005.10:71466110:T:G p.(Ser225Arg) NC_000005.10:71466110:T:G Identity +NM_001297640.2:c.805A>T NP_001284569.1:p.Met269Leu NC_000012.12:7096923:T:A p.(Met269Leu) NC_000012.12:7096923:T:A p.(Met269Leu) NC_000012.12:7096923:T:A Identity +NM_000175.5:c.229G>A NP_000166.2:p.Val77Met NC_000019.10:34366797:G:A p.(Val77Met) NC_000019.10:34366797:G:A p.(Val77Met) NC_000019.10:34366797:G:A Identity +NM_001271851.2:c.1071C>A NP_001258780.1:p.His357Gln NC_000001.11:38839579:G:T p.(His357Gln) NC_000001.11:38839579:G:T p.(His357Gln) NC_000001.11:38839579:G:T Identity +NM_032546.4:c.1018C>G NP_115935.3:p.Leu340Val NC_000002.12:27306237:C:G p.(Leu340Val) NC_000002.12:27306237:C:G p.(Leu340Val) NC_000002.12:27306237:C:G Identity +NM_017957.3:c.1573C>G NP_060427.2:p.Pro525Ala NC_000017.11:50541681:C:G p.(Pro525Ala) NC_000017.11:50541681:C:G p.(Pro525Ala) NC_000017.11:50541681:C:G Identity +NM_144703.3:c.713G>A NP_653304.2:p.Arg238His NC_000020.11:62130568:G:A p.(Arg238His) NC_000020.11:62130568:G:A p.(Arg238His) NC_000020.11:62130568:G:A Identity +NM_007350.3:c.1154A>C NP_031376.3:p.His385Pro NC_000012.12:76030587:T:G p.(His385Pro) NC_000012.12:76030587:T:G p.(His385Pro) NC_000012.12:76030587:T:G Identity +NM_001394531.1:c.6010G>A NP_001381460.1:p.Asp2004Asn NC_000010.11:48826697:G:A p.(Asp2004Asn) NC_000010.11:48826697:G:A p.(Asp2004Asn) NC_000010.11:48826697:G:A Identity +NM_005803.4:c.275C>T NP_005794.1:p.Thr92Met NC_000006.12:30741268:G:A p.(Thr92Met) NC_000006.12:30741268:G:A p.(Thr92Met) NC_000006.12:30741268:G:A Identity +NM_001270391.2:c.695G>T NP_001257320.1:p.Arg232Leu NC_000004.12:73576655:C:A p.(Arg232Leu) NC_000004.12:73576655:C:A p.(Arg232Leu) NC_000004.12:73576655:C:A Identity +NM_178561.5:c.674A>G NP_848656.2:p.Gln225Arg NC_000007.14:143756984:T:C p.(Gln225Arg) NC_000007.14:143756984:T:C p.(Gln225Arg) NC_000007.14:143756984:T:C Identity +NM_001286527.3:c.979G>A NP_001273456.2:p.Gly327Arg NC_000016.10:84425793:G:A p.(Gly327Arg) NC_000016.10:84425793:G:A p.(Gly327Arg) NC_000016.10:84425793:G:A Identity +NM_001112726.3:c.2845G>A NP_001106197.1:p.Ala949Thr NC_000014.9:104887083:G:A p.(Ala949Thr) NC_000014.9:104887083:G:A p.(Ala949Thr) NC_000014.9:104887083:G:A Identity +NM_001362481.2:c.2014G>A NP_001349410.1:p.Asp672Asn NC_000004.12:67506824:C:T p.(Asp672Asn) NC_000004.12:67506824:C:T p.(Asp672Asn) NC_000004.12:67506824:C:T Identity +NM_001283012.2:c.707C>T NP_001269941.1:p.Ala236Val NC_000008.11:120009041:C:T p.(Ala236Val) NC_000008.11:120009041:C:T p.(Ala236Val) NC_000008.11:120009041:C:T Identity +NM_025082.4:c.1558C>G NP_079358.3:p.Arg520Gly NC_000016.10:67828477:G:C p.(Arg520Gly) NC_000016.10:67828477:G:C p.(Arg520Gly) NC_000016.10:67828477:G:C Identity +NM_080879.3:c.500T>C NP_543155.2:p.Phe167Ser NC_000023.11:103500256:A:G p.(Phe167Ser) NC_000023.11:103500256:A:G p.(Phe167Ser) NC_000023.11:103500256:A:G Identity +NM_021030.3:c.724A>C NP_066358.2:p.Lys242Gln NC_000019.10:19712556:T:G p.(Lys242Gln) NC_000019.10:19712556:T:G p.(Lys242Gln) NC_000019.10:19712556:T:G Identity +NM_001004729.2:c.908A>G NP_001004729.1:p.Lys303Arg NC_000011.10:59365365:A:G p.(Lys303Arg) NC_000011.10:59365365:A:G p.(Lys303Arg) NC_000011.10:59365365:A:G Identity +NM_012168.6:c.628C>T NP_036300.2:p.Arg210Cys NC_000001.11:11649214:G:A p.(Arg210Cys) NC_000001.11:11649214:G:A p.(Arg210Cys) NC_000001.11:11649214:G:A Identity +NM_002974.4:c.203A>G NP_002965.1:p.Glu68Gly NC_000018.10:63643179:T:C p.(Glu68Gly) NC_000018.10:63643179:T:C p.(Glu68Gly) NC_000018.10:63643179:T:C Identity +NM_001349436.1:c.811T>G NP_001336365.1:p.Phe271Val NC_000022.11:39086386:T:G p.(Phe271Val) NC_000022.11:39086386:T:G p.(Phe271Val) NC_000022.11:39086386:T:G Identity +NM_006500.3:c.1217G>A NP_006491.2:p.Arg406His NC_000011.10:119311875:C:T p.(Arg406His) NC_000011.10:119311875:C:T p.(Arg406His) NC_000011.10:119311875:C:T Identity +NM_001369893.1:c.1498G>A NP_001356822.1:p.Gly500Ser NC_000009.12:121118387:G:A p.(Gly500Ser) NC_000009.12:121118387:G:A p.(Gly500Ser) NC_000009.12:121118387:G:A Identity +NM_001145153.2:c.274C>A NP_001138625.1:p.Pro92Thr NC_000008.11:132751824:G:T p.(Pro92Thr) NC_000008.11:132751824:G:T p.(Pro92Thr) NC_000008.11:132751824:G:T Identity +NM_001009606.4:c.752G>A NP_001009606.3:p.Arg251His NC_000016.10:1911866:C:T p.(Arg251His) NC_000016.10:1911866:C:T p.(Arg251His) NC_000016.10:1911866:C:T Identity +NM_014012.6:c.335T>C NP_054731.2:p.Leu112Pro NC_000020.11:31476779:T:C p.(Leu112Pro) NC_000020.11:31476779:T:C p.(Leu112Pro) NC_000020.11:31476779:T:C Identity +NM_007061.4:c.1138G>T NP_008992.4:p.Asp380Tyr NC_000022.11:37568802:G:T ERR:Data provider error: ValueError: Transcript NM_007061.4 not found ERR:Data provider error: ValueError: Transcript NM_007061.4 not found ERR:AlignmentMapper(tx_ac=NM_007061.4, alt_ac=NM_007061.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007061.4, alt_ac=NM_007061.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007061.4 not found +NM_001363546.1:c.1492A>G NP_001350475.1:p.Thr498Ala NC_000019.10:15469780:T:C p.(Thr498Ala) NC_000019.10:15469780:T:C p.(Thr498Ala) NC_000019.10:15469780:T:C Identity +NM_001348194.2:c.1274T>C NP_001335123.1:p.Ile425Thr NC_000006.12:7414379:T:C p.(Ile425Thr) NC_000006.12:7414379:T:C p.(Ile425Thr) NC_000006.12:7414379:T:C Identity +NM_130386.3:c.1483G>C NP_569057.2:p.Glu495Gln NC_000018.10:335074:C:G p.(Glu495Gln) NC_000018.10:335074:C:G p.(Glu495Gln) NC_000018.10:335074:C:G Identity +NM_001085458.2:c.719G>A NP_001078927.1:p.Arg240Gln NC_000011.10:57796754:G:A p.(Arg240Gln) NC_000011.10:57796754:G:A p.(Arg240Gln) NC_000011.10:57796754:G:A Identity +NM_001114974.2:c.404T>C NP_001108446.1:p.Leu135Ser NC_000017.11:4592364:T:C p.(Leu135Ser) NC_000017.11:4592364:T:C p.(Leu135Ser) NC_000017.11:4592364:T:C Identity +NM_001278273.2:c.1117A>G NP_001265202.1:p.Ile373Val NC_000007.14:105142400:T:C p.(Ile373Val) NC_000007.14:105142400:T:C p.(Ile373Val) NC_000007.14:105142400:T:C Identity +NM_015130.3:c.2665G>A NP_055945.2:p.Val889Ile NC_000004.12:140634028:C:T p.(Val889Ile) NC_000004.12:140634028:C:T p.(Val889Ile) NC_000004.12:140634028:C:T Identity +NM_002016.2:c.6926A>C NP_002007.1:p.Asn2309Thr NC_000001.11:152307959:T:G p.(Asn2309Thr) NC_000001.11:152307959:T:G p.(Asn2309Thr) NC_000001.11:152307959:T:G Identity +NM_000581.4:c.395C>T NP_000572.2:p.Ala132Val NC_000003.12:49357604:G:A p.(Ala132Val) NC_000003.12:49357604:G:A p.? NC_000003.12:49357604:G:A Identity +NM_194292.3:c.350A>G NP_919268.1:p.Asp117Gly NC_000001.11:100121510:T:C p.(Asp117Gly) NC_000001.11:100121510:T:C p.(Asp117Gly) NC_000001.11:100121510:T:C Identity +NM_001033025.3:c.834T>A NP_001028197.1:p.Ser278Arg NC_000001.11:100874100:A:T p.(Ser278Arg) NC_000001.11:100874100:A:T p.(Ser278Arg) NC_000001.11:100874100:A:T Identity +NM_001308022.2:c.3617G>C NP_001294951.1:p.Gly1206Ala NC_000002.12:217818363:C:G p.(Gly1206Ala) NC_000002.12:217818363:C:G p.(Gly1206Ala) NC_000002.12:217818363:C:G Identity +NM_001367974.1:c.421G>A NP_001354903.1:p.Val141Ile NC_000011.10:111497299:C:T p.(Val141Ile) NC_000011.10:111497299:C:T p.(Val141Ile) NC_000011.10:111497299:C:T Identity +NM_001105566.3:c.206C>G NP_001099036.1:p.Thr69Ser NC_000006.12:17873390:G:C p.(Thr69Ser) NC_000006.12:17873390:G:C p.(Thr69Ser) NC_000006.12:17873390:G:C Identity +NM_001112726.3:c.1811C>T NP_001106197.1:p.Ser604Phe NC_000014.9:104885408:C:T p.(Ser604Phe) NC_000014.9:104885408:C:T p.(Ser604Phe) NC_000014.9:104885408:C:T Identity +NM_005066.3:c.739C>T NP_005057.1:p.His247Tyr NC_000001.11:35192310:G:A p.(His247Tyr) NC_000001.11:35192310:G:A p.(His247Tyr) NC_000001.11:35192310:G:A Identity +NM_001006657.2:c.2896C>T NP_001006658.1:p.Arg966Cys NC_000002.12:19931369:G:A p.(Arg966Cys) NC_000002.12:19931369:G:A p.(Arg966Cys) NC_000002.12:19931369:G:A Identity +NM_001093.4:c.4000C>T NP_001084.3:p.Arg1334Trp NC_000012.12:109227487:C:T p.(Arg1334Trp) NC_000012.12:109227487:C:T p.(Arg1334Trp) NC_000012.12:109227487:C:T Identity +NM_015691.5:c.1561G>A NP_056506.3:p.Gly521Ser NC_000023.11:10117244:G:A ERR:TranscriptMismatch:expected G, found C at transcript indices 1885..1886 NC_000023.11:10117247:C:A ERR:NM_015691.5:c.1561G>A: Variant reference (G) does not agree with reference sequence (C) ERR:NM_015691.5:c.1561G>A: Variant reference (G) does not agree with reference sequence (C) Unknown +NM_005775.5:c.791G>C NP_005766.3:p.Gly264Ala NC_000008.11:22564495:G:C p.(Gly264Ala) NC_000008.11:22564495:G:C p.(Gly264Ala) NC_000008.11:22564495:G:C Identity +NM_001199897.2:c.461C>T NP_001186826.1:p.Thr154Met NC_000020.11:9518156:C:T p.(Thr154Met) NC_000020.11:9518156:C:T p.(Thr154Met) NC_000020.11:9518156:C:T Identity +NM_001282663.2:c.980C>T NP_001269592.1:p.Ala327Val NC_000011.10:12220231:C:T p.(Ala327Val) NC_000011.10:12220231:C:T p.(Ala327Val) NC_000011.10:12220231:C:T Identity +NM_016002.3:c.941G>C NP_057086.2:p.Trp314Ser NC_000001.11:246760177:G:C p.(Trp314Ser) NC_000001.11:246760177:G:C p.(Trp314Ser) NC_000001.11:246760177:G:C Identity +NM_001267812.2:c.445G>A NP_001254741.1:p.Ala149Thr NC_000007.14:100855833:G:A p.(Ala149Thr) NC_000007.14:100855833:G:A p.(Ala149Thr) NC_000007.14:100855833:G:A Identity +NM_001394062.1:c.3154C>T NP_001380991.1:p.Arg1052Trp NC_000001.11:39310883:C:T p.(Arg1052Trp) NC_000001.11:39310883:C:T p.(Arg1052Trp) NC_000001.11:39310883:C:T Identity +NM_001316321.3:c.265C>T NP_001303250.1:p.Arg89Trp NC_000017.11:82201679:G:A p.(Arg89Trp) NC_000017.11:82201679:G:A p.(Arg89Trp) NC_000017.11:82201679:G:A Identity +NM_001272005.2:c.109G>A NP_001258934.1:p.Glu37Lys NC_000017.11:74941481:G:A p.(Glu37Lys) NC_000017.11:74941481:G:A p.(Glu37Lys) NC_000017.11:74941481:G:A Identity +NM_032119.4:c.14308C>T NP_115495.3:p.Arg4770Cys NC_000005.10:90791136:C:T p.(Arg4770Cys) NC_000005.10:90791136:C:T p.(Arg4770Cys) NC_000005.10:90791136:C:T Identity +NM_000250.2:c.1918A>T NP_000241.1:p.Ile640Phe NC_000017.11:58271766:T:A p.(Ile640Phe) NC_000017.11:58271766:T:A p.(Ile640Phe) NC_000017.11:58271766:T:A Identity +NM_177417.3:c.470A>C NP_803136.2:p.Asp157Ala NC_000019.10:45346754:A:C p.(Asp157Ala) NC_000019.10:45346754:A:C p.(Asp157Ala) NC_000019.10:45346754:A:C Identity +NM_001320276.2:c.525G>T NP_001307205.1:p.Glu175Asp NC_000003.12:14819595:G:T p.(Glu175Asp) NC_000003.12:14819595:G:T p.(Glu175Asp) NC_000003.12:14819595:G:T Identity +NM_018899.6:c.2252G>A NP_061722.1:p.Arg751Lys NC_000005.10:140969017:G:A p.(Arg751Lys) NC_000005.10:140969017:G:A p.(Arg751Lys) NC_000005.10:140969017:G:A Identity +NM_001297707.3:c.104A>G NP_001284636.1:p.Asn35Ser NC_000001.11:200739930:A:G p.(Asn35Ser) NC_000001.11:200739930:A:G p.(Asn35Ser) NC_000001.11:200739930:A:G Identity +LRG_1208t1:c.1295T>A LRG_1208p1:p.Met432Lys NC_000010.11:99804103:T:A ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1208t1, alt_ac=LRG_1208t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1208t1 not found +NM_001166386.3:c.517G>A NP_001159858.1:p.Gly173Ser NC_000023.11:152736677:G:A p.(Gly173Ser) NC_000023.11:152736677:G:A p.(Gly173Ser) NC_000023.11:152736677:G:A Identity +NM_153813.3:c.1273T>C NP_722520.2:p.Ser425Pro NC_000016.10:88533230:T:C p.(Ser425Pro) NC_000016.10:88533230:T:C p.(Ser425Pro) NC_000016.10:88533230:T:C Identity +NM_001330431.2:c.1419G>A NP_001317360.1:p.Met473Ile NC_000017.11:63691818:G:A p.(Met473Ile) NC_000017.11:63691818:G:A p.(Met473Ile) NC_000017.11:63691818:G:A Identity +NM_001367466.1:c.2565T>G NP_001354395.1:p.Ile855Met NC_000001.11:153936095:A:C p.(Ile855Met) NC_000001.11:153936095:A:C p.(Ile855Met) NC_000001.11:153936095:A:C Identity +NM_031212.4:c.134A>T NP_112489.3:p.Glu45Val NC_000010.11:99620201:T:A p.(Glu45Val) NC_000010.11:99620201:T:A p.(Glu45Val) NC_000010.11:99620201:T:A Identity +NM_178171.5:c.311C>T NP_835465.2:p.Thr104Met NC_000017.11:39966355:C:T p.(Thr104Met) NC_000017.11:39966355:C:T p.(Thr104Met) NC_000017.11:39966355:C:T Identity +NM_001321395.2:c.1267T>C NP_001308324.1:p.Cys423Arg NC_000017.11:35855388:A:G p.(Cys423Arg) NC_000017.11:35855388:A:G p.(Cys423Arg) NC_000017.11:35855388:A:G Identity +NM_001101672.2:c.655C>A NP_001095142.1:p.Leu219Met NC_000014.9:21092641:G:T p.(Leu219Met) NC_000014.9:21092641:G:T p.(Leu219Met) NC_000014.9:21092641:G:T Identity +NM_001077663.3:c.462G>T NP_001071131.1:p.Glu154Asp NC_000007.14:43879000:C:A p.(Glu154Asp) NC_000007.14:43879000:C:A p.(Glu154Asp) NC_000007.14:43879000:C:A Identity +NM_001318359.2:c.2735C>A NP_001305288.1:p.Pro912Gln NC_000004.12:40121085:C:A p.(Pro912Gln) NC_000004.12:40121085:C:A p.(Pro912Gln) NC_000004.12:40121085:C:A Identity +NM_001316321.3:c.2089C>G NP_001303250.1:p.Arg697Gly NC_000017.11:82157899:G:C p.(Arg697Gly) NC_000017.11:82157899:G:C p.(Arg697Gly) NC_000017.11:82157899:G:C Identity +NM_001145195.2:c.1417G>C NP_001138667.1:p.Asp473His NC_000010.11:17991297:G:C p.(Asp473His) NC_000010.11:17991297:G:C p.(Asp473His) NC_000010.11:17991297:G:C Identity +NM_006486.3:c.1751A>G NP_006477.3:p.Asn584Ser NC_000022.11:45574563:A:G p.(Asn584Ser) NC_000022.11:45574563:A:G p.(Asn584Ser) NC_000022.11:45574563:A:G Identity +NM_003613.4:c.1546C>T NP_003604.4:p.Arg516Cys NC_000015.10:65198739:G:A p.(Arg516Cys) NC_000015.10:65198739:G:A p.(Arg516Cys) NC_000015.10:65198739:G:A Identity +NM_022052.2:c.1226G>A NP_071335.1:p.Arg409Gln NC_000023.11:103079467:C:T p.(Arg409Gln) NC_000023.11:103079467:C:T p.(Arg409Gln) NC_000023.11:103079467:C:T Identity +NM_144505.3:c.188C>G NP_653088.1:p.Pro63Arg NC_000019.10:51000600:G:C p.(Pro63Arg) NC_000019.10:51000600:G:C p.(Pro63Arg) NC_000019.10:51000600:G:C Identity +NM_001130703.1:c.7A>G NP_001124175.1:p.Met3Val NC_000004.12:174975531:A:G p.(Met3Val) NC_000004.12:174975531:A:G p.(Met3Val) NC_000004.12:174975531:A:G Identity +NM_001286431.2:c.1079G>A NP_001273360.1:p.Arg360His NC_000006.12:111380122:C:T p.(Arg360His) NC_000006.12:111380122:C:T p.(Arg360His) NC_000006.12:111380122:C:T Identity +NM_002558.4:c.227A>G NP_002549.1:p.Gln76Arg NC_000017.11:3905277:T:C p.(Gln76Arg) NC_000017.11:3905277:T:C p.(Gln76Arg) NC_000017.11:3905277:T:C Identity +NM_015258.2:c.619T>C NP_056073.1:p.Trp207Arg NC_000009.12:113199842:A:G p.(Trp207Arg) NC_000009.12:113199842:A:G p.(Trp207Arg) NC_000009.12:113199842:A:G Identity +NM_001278443.2:c.788G>A NP_001265372.2:p.Arg263His NC_000019.10:17283584:G:A p.(Arg263His) NC_000019.10:17283584:G:A p.(Arg263His) NC_000019.10:17283584:G:A Identity +NM_020120.4:c.1560C>G NP_064505.1:p.Phe520Leu NC_000002.12:128134937:C:G p.(Phe520Leu) NC_000002.12:128134937:C:G p.(Phe520Leu) NC_000002.12:128134937:C:G Identity +NM_001039500.3:c.3458C>T NP_001034589.2:p.Ser1153Leu NC_000001.11:20354072:C:T p.(Ser1153Leu) NC_000001.11:20354072:C:T p.(Ser1153Leu) NC_000001.11:20354072:C:T Identity +NM_001166434.3:c.868A>G NP_001159906.1:p.Asn290Asp NC_000003.12:52784363:A:G p.(Asn290Asp) NC_000003.12:52784363:A:G p.(Asn290Asp) NC_000003.12:52784363:A:G Identity +NM_015380.5:c.403A>G NP_056195.3:p.Met135Val NC_000022.11:43972315:A:G p.(Met135Val) NC_000022.11:43972315:A:G p.(Met135Val) NC_000022.11:43972315:A:G Identity +NM_001171.6:c.779G>A NP_001162.5:p.Arg260His NC_000016.10:16208742:C:T p.(Arg260His) NC_000016.10:16208742:C:T p.(Arg260His) NC_000016.10:16208742:C:T Identity +NM_001318046.2:c.3895G>A NP_001304975.1:p.Val1299Ile NC_000007.14:108052117:C:T p.(Val1299Ile) NC_000007.14:108052117:C:T p.(Val1299Ile) NC_000007.14:108052117:C:T Identity +NM_006931.3:c.745A>G NP_008862.1:p.Met249Val NC_000012.12:7929799:T:C p.(Met249Val) NC_000012.12:7929799:T:C p.(Met249Val) NC_000012.12:7929799:T:C Identity +NM_001297640.2:c.997G>A NP_001284569.1:p.Val333Ile NC_000012.12:7096731:C:T p.(Val333Ile) NC_000012.12:7096731:C:T p.(Val333Ile) NC_000012.12:7096731:C:T Identity +NM_012342.3:c.410C>A NP_036474.1:p.Thr137Asn NC_000010.11:28682027:C:A p.(Thr137Asn) NC_000010.11:28682027:C:A p.(Thr137Asn) NC_000010.11:28682027:C:A Identity +NM_020632.3:c.1556C>T NP_065683.2:p.Pro519Leu NC_000007.14:138739555:G:A p.(Pro519Leu) NC_000007.14:138739555:G:A p.(Pro519Leu) NC_000007.14:138739555:G:A Identity +NM_001317091.2:c.847A>C NP_001304020.1:p.Lys283Gln NC_000004.12:163351119:A:C p.(Lys283Gln) NC_000004.12:163351119:A:C p.(Lys283Gln) NC_000004.12:163351119:A:C Identity +NM_001285.4:c.432A>T NP_001276.3:p.Leu144Phe NC_000001.11:86473856:A:T p.(Leu144Phe) NC_000001.11:86473856:A:T p.(Leu144Phe) NC_000001.11:86473856:A:T Identity +NM_001320257.2:c.1021G>C NP_001307186.1:p.Glu341Gln NC_000001.11:89383696:G:C p.(Glu341Gln) NC_000001.11:89383696:G:C p.(Glu341Gln) NC_000001.11:89383696:G:C Identity +NM_032726.4:c.401G>A NP_116115.1:p.Arg134His NC_000002.12:218618797:G:A p.(Arg134His) NC_000002.12:218618797:G:A p.(Arg134His) NC_000002.12:218618797:G:A Identity +NM_022450.5:c.334C>T NP_071895.3:p.Arg112Cys NC_000016.10:63714:G:A p.(Arg112Cys) NC_000016.10:63714:G:A p.(Arg112Cys) NC_000016.10:63714:G:A Identity +NM_020759.3:c.1042A>G NP_065810.2:p.Ser348Gly NC_000015.10:42663453:A:G p.(Ser348Gly) NC_000015.10:42663453:A:G p.(Ser348Gly) NC_000015.10:42663453:A:G Identity +NM_015044.4:c.833C>T NP_055859.1:p.Thr278Met NC_000016.10:23482969:G:A p.(Thr278Met) NC_000016.10:23482969:G:A p.(Thr278Met) NC_000016.10:23482969:G:A Identity +NM_001004751.3:c.697C>T NP_001004751.1:p.Leu233Phe NC_000011.10:4640486:C:T p.(Leu233Phe) NC_000011.10:4640486:C:T p.(Leu233Phe) NC_000011.10:4640486:C:T Identity +NM_000173.7:c.917G>A NP_000164.5:p.Arg306His NC_000017.11:4933520:G:A p.(Arg306His) NC_000017.11:4933520:G:A p.(Arg306His) NC_000017.11:4933520:G:A Identity +NM_022481.6:c.3625C>A NP_071926.4:p.Pro1209Thr NC_000005.10:141656747:G:T p.(Pro1209Thr) NC_000005.10:141656747:G:T p.(Pro1209Thr) NC_000005.10:141656747:G:T Identity +NM_173857.3:c.377A>G NP_776256.2:p.His126Arg NC_000019.10:53267288:T:C p.(His126Arg) NC_000019.10:53267288:T:C p.(His126Arg) NC_000019.10:53267288:T:C Identity +NM_130388.4:c.386G>T NP_569059.3:p.Gly129Val NC_000023.11:64225264:C:A p.(Gly129Val) NC_000023.11:64225264:C:A p.(Gly129Val) NC_000023.11:64225264:C:A Identity +NM_001320336.3:c.2327C>T NP_001307265.1:p.Ala776Val NC_000001.11:161191163:G:A p.(Ala776Val) NC_000001.11:161191163:G:A p.(Ala776Val) NC_000001.11:161191163:G:A Identity +NM_020770.3:c.865A>G NP_065821.1:p.Met289Val NC_000001.11:151519383:A:G p.(Met289Val) NC_000001.11:151519383:A:G p.(Met289Val) NC_000001.11:151519383:A:G Identity +NM_001009571.4:c.2591A>G NP_001009571.2:p.Asp864Gly NC_000007.14:122407676:T:C p.(Asp864Gly) NC_000007.14:122407676:T:C p.(Asp864Gly) NC_000007.14:122407676:T:C Identity +NM_001330762.2:c.4495A>T NP_001317691.1:p.Met1499Leu NC_000009.12:121169690:A:T p.(Met1499Leu) NC_000009.12:121169690:A:T p.(Met1499Leu) NC_000009.12:121169690:A:T Identity +NM_022093.2:c.2920G>A NP_071376.1:p.Asp974Asn NC_000001.11:175126959:G:A p.(Asp974Asn) NC_000001.11:175126959:G:A p.(Asp974Asn) NC_000001.11:175126959:G:A Identity +NM_001032999.3:c.557C>T NP_001028171.1:p.Ala186Val NC_000020.11:33623160:C:T p.(Ala186Val) NC_000020.11:33623160:C:T p.(Ala186Val) NC_000020.11:33623160:C:T Identity +NM_001190326.2:c.2167T>A NP_001177255.1:p.Ser723Thr NC_000022.11:20110051:T:A p.(Ser723Thr) NC_000022.11:20110051:T:A p.(Ser723Thr) NC_000022.11:20110051:T:A Identity +NM_001146337.3:c.406G>A NP_001139809.1:p.Gly136Ser NC_000005.10:149302495:G:A p.(Gly136Ser) NC_000005.10:149302495:G:A p.(Gly136Ser) NC_000005.10:149302495:G:A Identity +NM_001281296.2:c.1415C>T NP_001268225.1:p.Pro472Leu NC_000002.12:74560157:G:A p.(Pro472Leu) NC_000002.12:74560157:G:A p.(Pro472Leu) NC_000002.12:74560157:G:A Identity +NM_001150.3:c.2455G>A NP_001141.2:p.Ala819Thr NC_000015.10:89792232:C:T p.(Ala819Thr) NC_000015.10:89792232:C:T p.(Ala819Thr) NC_000015.10:89792232:C:T Identity +NM_001318.4:c.20A>T NP_001309.3:p.Lys7Ile NC_000017.11:63910423:T:A p.(Lys7Ile) NC_000017.11:63910423:T:A p.(Lys7Ile) NC_000017.11:63910423:T:A Identity +NM_001017392.5:c.2704G>A NP_001017392.2:p.Gly902Arg NC_000019.10:19004392:C:T p.(Gly902Arg) NC_000019.10:19004392:C:T p.(Gly902Arg) NC_000019.10:19004392:C:T Identity +NM_001145966.2:c.8203C>T NP_001139438.1:p.Arg2735Cys NC_000010.11:128101679:G:A p.(Arg2735Cys) NC_000010.11:128101679:G:A p.(Arg2735Cys) NC_000010.11:128101679:G:A Identity +NM_001164664.2:c.5554G>C NP_001158136.1:p.Asp1852His NC_000005.10:67164732:G:C p.(Asp1852His) NC_000005.10:67164732:G:C p.(Asp1852His) NC_000005.10:67164732:G:C Identity +NM_001308169.2:c.1054G>A NP_001295098.1:p.Asp352Asn NC_000016.10:20480581:G:A p.(Asp352Asn) NC_000016.10:20480581:G:A p.(Asp352Asn) NC_000016.10:20480581:G:A Identity +NM_001376049.1:c.1249G>A NP_001362978.1:p.Asp417Asn NC_000005.10:74796040:C:T p.(Asp417Asn) NC_000005.10:74796040:C:T p.(Asp417Asn) NC_000005.10:74796040:C:T Identity +NM_000175.5:c.926C>T NP_000166.2:p.Thr309Met NC_000019.10:34393929:C:T p.(Thr309Met) NC_000019.10:34393929:C:T p.(Thr309Met) NC_000019.10:34393929:C:T Identity +NM_001320666.3:c.1013G>A NP_001307595.1:p.Arg338Gln NC_000019.10:37635527:C:T p.(Arg338Gln) NC_000019.10:37635527:C:T p.(Arg338Gln) NC_000019.10:37635527:C:T Identity +NM_000412.5:c.62C>T NP_000403.1:p.Pro21Leu NC_000003.12:186666092:C:T p.(Pro21Leu) NC_000003.12:186666092:C:T p.(Pro21Leu) NC_000003.12:186666092:C:T Identity +NM_001286725.2:c.11C>G NP_001273654.1:p.Ser4Cys NC_000013.11:70107688:G:C p.(Ser4Cys) NC_000013.11:70107688:G:C p.(Ser4Cys) NC_000013.11:70107688:G:C Identity +NM_032888.4:c.3613G>C NP_116277.2:p.Asp1205His NC_000009.12:114275663:G:C p.(Asp1205His) NC_000009.12:114275663:G:C p.(Asp1205His) NC_000009.12:114275663:G:C Identity +NM_001286407.2:c.740G>C NP_001273336.1:p.Cys247Ser NC_000015.10:40573545:G:C p.(Cys247Ser) NC_000015.10:40573545:G:C p.(Cys247Ser) NC_000015.10:40573545:G:C Identity +NM_139072.4:c.668A>G NP_620711.3:p.Asn223Ser NC_000002.12:229588405:T:C p.(Asn223Ser) NC_000002.12:229588405:T:C p.(Asn223Ser) NC_000002.12:229588405:T:C Identity +NM_001042678.2:c.443C>T NP_001036143.1:p.Ala148Val NC_000001.11:112701678:G:A p.(Ala148Val) NC_000001.11:112701678:G:A p.(Ala148Val) NC_000001.11:112701678:G:A Identity +NM_001318189.3:c.1234C>T NP_001305118.1:p.His412Tyr NC_000010.11:122334946:C:T p.(His412Tyr) NC_000010.11:122334946:C:T p.(His412Tyr) NC_000010.11:122334946:C:T Identity +NM_001347855.2:c.940A>G NP_001334784.1:p.Arg314Gly NC_000006.12:47714184:A:G p.(Arg314Gly) NC_000006.12:47714184:A:G p.(Arg314Gly) NC_000006.12:47714184:A:G Identity +NM_001362770.2:c.1165G>A NP_001349699.1:p.Ala389Thr NC_000020.11:483971:C:T p.(Ala389Thr) NC_000020.11:483971:C:T p.(Ala389Thr) NC_000020.11:483971:C:T Identity +NM_001370460.1:c.259G>A NP_001357389.1:p.Ala87Thr NC_000011.10:134342925:G:A p.(Ala87Thr) NC_000011.10:134342925:G:A p.(Ala87Thr) NC_000011.10:134342925:G:A Identity +NM_001051.5:c.85G>A NP_001042.1:p.Gly29Ser NC_000022.11:37207718:C:T p.(Gly29Ser) NC_000022.11:37207718:C:T p.(Gly29Ser) NC_000022.11:37207718:C:T Identity +NM_012256.4:c.683C>T NP_036388.2:p.Ala228Val NC_000007.14:149253609:C:T p.(Ala228Val) NC_000007.14:149253609:C:T p.(Ala228Val) NC_000007.14:149253609:C:T Identity +NM_014364.5:c.109G>C NP_055179.1:p.Glu37Gln NC_000019.10:35536853:G:C p.(Glu37Gln) NC_000019.10:35536853:G:C p.(Glu37Gln) NC_000019.10:35536853:G:C Identity +NM_001306085.2:c.611G>A NP_001293014.1:p.Arg204His NC_000018.10:79126318:G:A p.(Arg204His) NC_000018.10:79126318:G:A p.(Arg204His) NC_000018.10:79126318:G:A Identity +NM_001005183.1:c.200A>G NP_001005183.1:p.Glu67Gly NC_000012.12:55426452:A:G p.(Glu67Gly) NC_000012.12:55426452:A:G p.(Glu67Gly) NC_000012.12:55426452:A:G Identity +NM_001083900.1:c.7933C>T NP_001077369.1:p.Pro2645Ser NC_000012.12:123877822:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001349741.2:c.1210C>T NP_001336670.1:p.Arg404Trp NC_000013.11:113510408:C:T p.(Arg404Trp) NC_000013.11:113510408:C:T p.(Arg404Trp) NC_000013.11:113510408:C:T Identity +NM_001306215.2:c.296A>G NP_001293144.1:p.Asp99Gly NC_000004.12:145902962:T:C p.(Asp99Gly) NC_000004.12:145902962:T:C p.(Asp99Gly) NC_000004.12:145902962:T:C Identity +NM_001015048.3:c.1292C>T NP_001015048.1:p.Ala431Val NC_000014.9:103559872:G:A p.(Ala431Val) NC_000014.9:103559872:G:A p.(Ala431Val) NC_000014.9:103559872:G:A Identity +NM_001330678.2:c.393G>C NP_001317607.1:p.Arg131Ser NC_000009.12:75069749:C:G p.(Arg131Ser) NC_000009.12:75069749:C:G p.(Arg131Ser) NC_000009.12:75069749:C:G Identity +NM_000515.5:c.41G>C NP_000506.2:p.Gly14Ala NC_000017.11:63918475:C:G p.(Gly14Ala) NC_000017.11:63918475:C:G p.(Gly14Ala) NC_000017.11:63918475:C:G Identity +NM_001039970.2:c.543G>C NP_001035059.1:p.Glu181Asp NC_000011.10:18742347:C:G p.(Glu181Asp) NC_000011.10:18742347:C:G p.(Glu181Asp) NC_000011.10:18742347:C:G Identity +NM_001286201.2:c.349G>T NP_001273130.1:p.Val117Leu NC_000012.12:18081456:C:A p.(Val117Leu) NC_000012.12:18081456:C:A p.(Val117Leu) NC_000012.12:18081456:C:A Identity +NM_001004450.3:c.490G>A NP_001004450.2:p.Val164Ile NC_000009.12:122629042:C:T p.(Val164Ile) NC_000009.12:122629042:C:T p.(Val164Ile) NC_000009.12:122629042:C:T Identity +NM_001039886.4:c.787G>A NP_001034975.2:p.Val263Ile NC_000019.10:52553702:G:A p.(Val263Ile) NC_000019.10:52553702:G:A p.(Val263Ile) NC_000019.10:52553702:G:A Identity +NM_001286373.2:c.181C>A NP_001273302.1:p.Gln61Lys NC_000001.11:161226952:C:A p.(Gln61Lys) NC_000001.11:161226952:C:A p.(Gln61Lys) NC_000001.11:161226952:C:A Identity +NM_001199207.2:c.809A>T NP_001186136.1:p.Lys270Met NC_000007.14:74519515:A:T p.(Lys270Met) NC_000007.14:74519515:A:T p.(Lys270Met) NC_000007.14:74519515:A:T Identity +NM_001111322.2:c.1567C>T NP_001104792.1:p.Arg523Cys NC_000012.12:113165879:G:A p.(Arg523Cys) NC_000012.12:113165879:G:A p.(Arg523Cys) NC_000012.12:113165879:G:A Identity +NM_001293083.2:c.4339G>A NP_001280012.1:p.Val1447Met NC_000002.12:96698138:G:A p.(Val1447Met) NC_000002.12:96698138:G:A p.(Val1447Met) NC_000002.12:96698138:G:A Identity +NM_018310.4:c.1238C>T NP_060780.2:p.Thr413Met NC_000008.11:37844511:G:A p.(Thr413Met) NC_000008.11:37844511:G:A p.(Thr413Met) NC_000008.11:37844511:G:A Identity +NM_016453.4:c.1871G>A NP_057537.1:p.Ser624Asn NC_000003.12:48678657:C:T p.(Ser624Asn) NC_000003.12:48678657:C:T p.(Ser624Asn) NC_000003.12:48678657:C:T Identity +NM_001145966.2:c.8016G>T NP_001139438.1:p.Arg2672Ser NC_000010.11:128102743:C:A p.(Arg2672Ser) NC_000010.11:128102743:C:A p.(Arg2672Ser) NC_000010.11:128102743:C:A Identity +NM_175872.5:c.1768A>G NP_787068.3:p.Met590Val NC_000019.10:34958086:T:C p.(Met590Val) NC_000019.10:34958086:T:C p.(Met590Val) NC_000019.10:34958086:T:C Identity +NM_001135.4:c.2542G>A NP_001126.3:p.Val848Met NC_000015.10:88855126:G:A p.(Val848Met) NC_000015.10:88855126:G:A p.(Val848Met) NC_000015.10:88855126:G:A Identity +NM_002224.4:c.767A>G NP_002215.2:p.Glu256Gly NC_000006.12:33662582:A:G p.(Glu256Gly) NC_000006.12:33662582:A:G p.(Glu256Gly) NC_000006.12:33662582:A:G Identity +NM_005398.7:c.629G>T NP_005389.1:p.Gly210Val NC_000010.11:91630251:C:A p.(Gly210Val) NC_000010.11:91630251:C:A p.(Gly210Val) NC_000010.11:91630251:C:A Identity +NM_001411019.1:c.734G>A NP_001397948.1:p.Ser245Asn NC_000011.10:63999693:C:T p.(Ser245Asn) NC_000011.10:63999693:C:T p.(Ser245Asn) NC_000011.10:63999693:C:T Identity +NM_015659.3:c.1208G>A NP_056474.2:p.Arg403His NC_000016.10:11838051:C:T p.(Arg403His) NC_000016.10:11838051:C:T p.(Arg403His) NC_000016.10:11838051:C:T Identity +NM_001042724.2:c.124G>A NP_001036189.1:p.Val42Met NC_000019.10:44865305:G:A p.(Val42Met) NC_000019.10:44865305:G:A p.(Val42Met) NC_000019.10:44865305:G:A Identity +NM_014810.5:c.3118C>A NP_055625.4:p.Pro1040Thr NC_000001.11:180020891:C:A p.(Pro1040Thr) NC_000001.11:180020891:C:A p.(Pro1040Thr) NC_000001.11:180020891:C:A Identity +NM_025245.3:c.611G>A NP_079521.1:p.Arg204His NC_000019.10:19570129:C:T p.(Arg204His) NC_000019.10:19570129:C:T p.(Arg204His) NC_000019.10:19570129:C:T Identity +NM_001145928.2:c.55G>C NP_001139400.1:p.Gly19Arg NC_000002.12:128027108:C:G p.(Gly19Arg) NC_000002.12:128027108:C:G p.(Gly19Arg) NC_000002.12:128027108:C:G Identity +NM_153376.3:c.425C>T NP_699207.1:p.Ala142Val NC_000004.12:7042513:G:A p.(Ala142Val) NC_000004.12:7042513:G:A p.(Ala142Val) NC_000004.12:7042513:G:A Identity +NM_001304748.2:c.350G>A NP_001291677.1:p.Arg117His NC_000020.11:1181268:C:T p.(Arg117His) NC_000020.11:1181268:C:T p.(Arg117His) NC_000020.11:1181268:C:T Identity +NM_001037165.2:c.1160C>G NP_001032242.1:p.Ala387Gly NC_000007.14:4757102:C:G p.(Ala387Gly) NC_000007.14:4757102:C:G p.(Ala387Gly) NC_000007.14:4757102:C:G Identity +NM_007113.4:c.3220C>G NP_009044.2:p.Gln1074Glu NC_000001.11:152109996:G:C p.(Gln1074Glu) NC_000001.11:152109996:G:C p.(Gln1074Glu) NC_000001.11:152109996:G:C Identity +NM_001329963.1:c.52G>C NP_001316892.1:p.Glu18Gln NC_000002.12:38863385:C:G p.(Glu18Gln) NC_000002.12:38863385:C:G p.(Glu18Gln) NC_000002.12:38863385:C:G Identity +NM_001394201.1:c.2269G>A NP_001381130.1:p.Val757Met NC_000009.12:136381871:C:T p.(Val757Met) NC_000009.12:136381871:C:T p.(Val757Met) NC_000009.12:136381871:C:T Identity +NM_001080534.3:c.5608G>C NP_001074003.1:p.Ala1870Pro NC_000015.10:54532977:G:C p.(Ala1870Pro) NC_000015.10:54532977:G:C p.(Ala1870Pro) NC_000015.10:54532977:G:C Identity +NM_014464.4:c.1012T>C NP_055279.3:p.Cys338Arg NC_000006.12:54349827:T:C p.(Cys338Arg) NC_000006.12:54349827:T:C p.(Cys338Arg) NC_000006.12:54349827:T:C Identity +NM_001321463.2:c.109C>G NP_001308392.1:p.Leu37Val NC_000019.10:3186138:C:G p.(Leu37Val) NC_000019.10:3186138:C:G p.(Leu37Val) NC_000019.10:3186138:C:G Identity +NM_000356.4:c.3211G>A NP_000347.2:p.Asp1071Asn NC_000005.10:150392100:G:A p.(Asp1071Asn) NC_000005.10:150392100:G:A p.(Asp1071Asn) NC_000005.10:150392100:G:A Identity +NM_014004.3:c.383A>G NP_054723.1:p.Asp128Gly NC_000005.10:141393195:A:G p.(Asp128Gly) NC_000005.10:141393195:A:G p.(Asp128Gly) NC_000005.10:141393195:A:G Identity +NM_001017363.4:c.1093A>T NP_001017363.1:p.Ser365Cys NC_000009.12:34622064:T:A p.(Ser365Cys) NC_000009.12:34622064:T:A p.(Ser365Cys) NC_000009.12:34622064:T:A Identity +NM_024835.5:c.1187C>T NP_079111.1:p.Ala396Val NC_000017.11:36581509:C:T p.(Ala396Val) NC_000017.11:36581509:C:T p.(Ala396Val) NC_000017.11:36581509:C:T Identity +NM_001282683.2:c.782C>A NP_001269612.1:p.Ala261Glu NC_000016.10:87333984:G:T p.(Ala261Glu) NC_000016.10:87333984:G:T p.(Ala261Glu) NC_000016.10:87333984:G:T Identity +NM_001114.5:c.2152C>A NP_001105.1:p.Pro718Thr NC_000016.10:50309637:C:A p.(Pro718Thr) NC_000016.10:50309637:C:A p.(Pro718Thr) NC_000016.10:50309637:C:A Identity +NM_014587.5:c.1282G>T NP_055402.2:p.Ala428Ser NC_000016.10:985326:G:T p.(Ala428Ser) NC_000016.10:985326:G:T p.(Ala428Ser) NC_000016.10:985326:G:T Identity +NM_001375816.1:c.1996C>T NP_001362745.1:p.Arg666Cys NC_000004.12:10444332:G:A p.(Arg666Cys) NC_000004.12:10444332:G:A p.(Arg666Cys) NC_000004.12:10444332:G:A Identity +NM_001347004.1:c.611T>C NP_001333933.1:p.Leu204Pro NC_000015.10:43151923:T:C p.(Leu204Pro) NC_000015.10:43151923:T:C p.(Leu204Pro) NC_000015.10:43151923:T:C Identity +NM_001384360.1:c.194A>C NP_001371289.1:p.His65Pro NC_000016.10:72076587:A:C p.(His65Pro) NC_000016.10:72076587:A:C p.(His65Pro) NC_000016.10:72076587:A:C Identity +NM_018128.5:c.1796G>A NP_060598.3:p.Arg599Lys NC_000017.11:2329449:C:T p.(Arg599Lys) NC_000017.11:2329449:C:T p.(Arg599Lys) NC_000017.11:2329449:C:T Identity +NM_001322042.2:c.2249C>G NP_001308971.2:p.Pro750Arg NC_000008.11:6621487:C:G p.(Pro750Arg) NC_000008.11:6621487:C:G p.(Pro750Arg) NC_000008.11:6621487:C:G Identity +NM_024509.2:c.976C>T NP_078785.1:p.Arg326Cys NC_000019.10:35940400:C:T p.(Arg326Cys) NC_000019.10:35940400:C:T p.(Arg326Cys) NC_000019.10:35940400:C:T Identity +NM_001085377.2:c.2528G>A NP_001078846.2:p.Arg843Gln NC_000005.10:113049219:C:T p.(Arg843Gln) NC_000005.10:113049219:C:T p.(Arg843Gln) NC_000005.10:113049219:C:T Identity +NM_001039753.4:c.4321C>T NP_001034842.2:p.Pro1441Ser NC_000002.12:54953990:C:T p.(Pro1441Ser) NC_000002.12:54953990:C:T p.(Pro1441Ser) NC_000002.12:54953990:C:T Identity +NM_001321102.2:c.742C>T NP_001308031.1:p.Pro248Ser NC_000002.12:3388364:C:T p.(Pro248Ser) NC_000002.12:3388364:C:T p.(Pro248Ser) NC_000002.12:3388364:C:T Identity +NM_001293725.2:c.1220C>T NP_001280654.1:p.Ala407Val NC_000018.10:26286128:C:T p.(Ala407Val) NC_000018.10:26286128:C:T p.(Ala407Val) NC_000018.10:26286128:C:T Identity +NM_001195517.2:c.437A>C NP_001182446.1:p.His146Pro NC_000010.11:101131977:A:C p.(His146Pro) NC_000010.11:101131977:A:C p.(His146Pro) NC_000010.11:101131977:A:C Identity +NM_032804.6:c.122C>T NP_116193.2:p.Ala41Val NC_000010.11:62805180:C:T p.(Ala41Val) NC_000010.11:62805180:C:T p.(Ala41Val) NC_000010.11:62805180:C:T Identity +NM_001162495.3:c.376C>A NP_001155967.2:p.Arg126Ser NC_000021.9:32794045:G:T p.(Arg126Ser) NC_000021.9:32794045:G:T p.(Arg126Ser) NC_000021.9:32794045:G:T Identity +NM_001114396.3:c.259C>A NP_001107868.2:p.His87Asn NC_000012.12:10311558:C:A p.(His87Asn) NC_000012.12:10311558:C:A p.(His87Asn) NC_000012.12:10311558:C:A Identity +NM_001146686.3:c.427T>C NP_001140158.1:p.Phe143Leu NC_000003.12:190855872:A:G p.(Phe143Leu) NC_000003.12:190855872:A:G p.(Phe143Leu) NC_000003.12:190855872:A:G Identity +NM_001146698.2:c.1690C>T NP_001140170.1:p.Arg564Trp NC_000012.12:113942370:G:A p.(Arg564Trp) NC_000012.12:113942370:G:A p.(Arg564Trp) NC_000012.12:113942370:G:A Identity +NM_001122964.3:c.1114A>T NP_001116436.3:p.Met372Leu NC_000002.12:55586619:T:A p.(Met372Leu) NC_000002.12:55586619:T:A p.(Met372Leu) NC_000002.12:55586619:T:A Identity +NM_022134.3:c.38G>A NP_071417.2:p.Arg13Gln NC_000002.12:241799072:G:A p.(Arg13Gln) NC_000002.12:241799072:G:A p.(Arg13Gln) NC_000002.12:241799072:G:A Identity +NM_145268.4:c.644G>A NP_660311.1:p.Arg215Gln NC_000007.14:130216378:G:A p.(Arg215Gln) NC_000007.14:130216378:G:A p.(Arg215Gln) NC_000007.14:130216378:G:A Identity +NM_001198621.4:c.1442C>G NP_001185550.1:p.Ser481Cys NC_000003.12:39188003:G:C p.(Ser481Cys) NC_000003.12:39188003:G:C p.(Ser481Cys) NC_000003.12:39188003:G:C Identity +NM_173479.4:c.1132A>G NP_775750.3:p.Ile378Val NC_000019.10:33164247:A:G p.(Ile378Val) NC_000019.10:33164247:A:G p.(Ile378Val) NC_000019.10:33164247:A:G Identity +NM_001393376.1:c.1466A>C NP_001380305.1:p.Asn489Thr NC_000003.12:74336556:T:G p.(Asn489Thr) NC_000003.12:74336556:T:G p.(Asn489Thr) NC_000003.12:74336556:T:G Identity +NM_015230.4:c.2430A>C NP_056045.2:p.Glu810Asp NC_000004.12:36160470:T:G p.(Glu810Asp) NC_000004.12:36160470:T:G p.(Glu810Asp) NC_000004.12:36160470:T:G Identity +NM_024098.4:c.968G>A NP_077003.1:p.Arg323Gln NC_000011.10:60850209:G:A p.(Arg323Gln) NC_000011.10:60850209:G:A p.(Arg323Gln) NC_000011.10:60850209:G:A Identity +NM_024829.6:c.1364G>A NP_079105.4:p.Arg455Gln NC_000012.12:14506940:C:T p.(Arg455Gln) NC_000012.12:14506940:C:T p.(Arg455Gln) NC_000012.12:14506940:C:T Identity +NM_001025231.3:c.1058G>A NP_001020402.1:p.Arg353His NC_000001.11:152760645:G:A p.(Arg353His) NC_000001.11:152760645:G:A p.(Arg353His) NC_000001.11:152760645:G:A Identity +NM_015409.5:c.8113C>G NP_056224.3:p.Leu2705Val NC_000012.12:132062479:C:G p.(Leu2705Val) NC_000012.12:132062479:C:G p.(Leu2705Val) NC_000012.12:132062479:C:G Identity +NM_001080527.2:c.5870T>A NP_001073996.1:p.Leu1957Gln NC_000002.12:127635848:T:A p.(Leu1957Gln) NC_000002.12:127635848:T:A p.(Leu1957Gln) NC_000002.12:127635848:T:A Identity +NM_004886.4:c.1604T>G NP_004877.1:p.Val535Gly NC_000019.10:3751240:A:C p.(Val535Gly) NC_000019.10:3751240:A:C p.(Val535Gly) NC_000019.10:3751240:A:C Identity +NM_001317934.2:c.868G>A NP_001304863.1:p.Glu290Lys NC_000004.12:1353346:G:A p.(Glu290Lys) NC_000004.12:1353346:G:A p.(Glu290Lys) NC_000004.12:1353346:G:A Identity +NM_015324.4:c.715C>G NP_056139.1:p.Arg239Gly NC_000011.10:6601350:G:C p.(Arg239Gly) NC_000011.10:6601350:G:C p.(Arg239Gly) NC_000011.10:6601350:G:C Identity +NM_001166034.2:c.1576G>A NP_001159506.1:p.Glu526Lys NC_000019.10:35526705:C:T p.(Glu526Lys) NC_000019.10:35526705:C:T p.(Glu526Lys) NC_000019.10:35526705:C:T Identity +NM_001345887.2:c.2797G>A NP_001332816.1:p.Asp933Asn NC_000010.11:99390364:G:A p.(Asp933Asn) NC_000010.11:99390364:G:A p.(Asp933Asn) NC_000010.11:99390364:G:A Identity +NM_000573.4:c.4880G>T NP_000564.2:p.Gly1627Val NC_000001.11:207609622:G:T ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001318099.2:c.1933C>T NP_001305028.1:p.Arg645Trp NC_000010.11:101007090:C:T p.(Arg645Trp) NC_000010.11:101007090:C:T p.(Arg645Trp) NC_000010.11:101007090:C:T Identity +NM_001301128.2:c.3005C>T NP_001288057.1:p.Thr1002Ile NC_000007.14:78133044:G:A p.(Thr1002Ile) NC_000007.14:78133044:G:A p.(Thr1002Ile) NC_000007.14:78133044:G:A Identity +NM_001018058.3:c.832A>G NP_001018068.1:p.Met278Val NC_000007.14:115940675:T:C p.(Met278Val) NC_000007.14:115940675:T:C p.(Met278Val) NC_000007.14:115940675:T:C Identity +NM_001301212.2:c.4447G>A NP_001288141.1:p.Asp1483Asn NC_000015.10:50586430:C:T p.(Asp1483Asn) NC_000015.10:50586430:C:T p.(Asp1483Asn) NC_000015.10:50586430:C:T Identity +NM_001205301.2:c.1129G>A NP_001192230.1:p.Gly377Ser NC_000005.10:38407127:G:A p.(Gly377Ser) NC_000005.10:38407127:G:A p.(Gly377Ser) NC_000005.10:38407127:G:A Identity +NM_001024594.3:c.77C>T NP_001019765.1:p.Pro26Leu NC_000001.11:197902725:C:T p.(Pro26Leu) NC_000001.11:197902725:C:T p.(Pro26Leu) NC_000001.11:197902725:C:T Identity +NM_001017922.2:c.55G>A NP_001017922.1:p.Val19Ile NC_000001.11:42830502:G:A p.(Val19Ile) NC_000001.11:42830502:G:A p.(Val19Ile) NC_000001.11:42830502:G:A Identity +NM_001789.3:c.1174G>A NP_001780.2:p.Glu392Lys NC_000003.12:48165652:C:T p.(Glu392Lys) NC_000003.12:48165652:C:T p.(Glu392Lys) NC_000003.12:48165652:C:T Identity +NM_001146202.2:c.1486C>T NP_001139674.1:p.Arg496Cys NC_000019.10:38412937:G:A p.(Arg496Cys) NC_000019.10:38412937:G:A p.(Arg496Cys) NC_000019.10:38412937:G:A Identity +NM_001029864.2:c.3199C>T NP_001025035.1:p.Arg1067Cys NC_000020.11:38213445:G:A p.(Arg1067Cys) NC_000020.11:38213445:G:A p.(Arg1067Cys) NC_000020.11:38213445:G:A Identity +NM_001321647.2:c.261G>C NP_001308576.1:p.Met87Ile NC_000010.11:12177820:C:G p.(Met87Ile) NC_000010.11:12177820:C:G p.(Met87Ile) NC_000010.11:12177820:C:G Identity +NM_001166222.2:c.2800G>A NP_001159694.1:p.Gly934Ser NC_000011.10:67424547:G:A p.(Gly934Ser) NC_000011.10:67424547:G:A p.(Gly934Ser) NC_000011.10:67424547:G:A Identity +NM_014786.4:c.4135C>T NP_055601.2:p.Arg1379Cys NC_000011.10:73359880:C:T p.(Arg1379Cys) NC_000011.10:73359880:C:T p.(Arg1379Cys) NC_000011.10:73359880:C:T Identity +NM_001346765.2:c.2042T>C NP_001333694.1:p.Ile681Thr NC_000017.11:29118076:A:G p.(Ile681Thr) NC_000017.11:29118076:A:G p.(Ile681Thr) NC_000017.11:29118076:A:G Identity +NM_001080779.2:c.1384G>A NP_001074248.1:p.Glu462Lys NC_000017.11:1478103:C:T p.(Glu462Lys) NC_000017.11:1478103:C:T p.(Glu462Lys) NC_000017.11:1478103:C:T Identity +NM_001145411.2:c.1414A>G NP_001138883.1:p.Lys472Glu NC_000004.12:185459061:T:C p.(Lys472Glu) NC_000004.12:185459061:T:C p.(Lys472Glu) NC_000004.12:185459061:T:C Identity +NM_001286429.2:c.725C>T NP_001273358.1:p.Pro242Leu NC_000015.10:71737905:C:T p.(Pro242Leu) NC_000015.10:71737905:C:T p.(Pro242Leu) NC_000015.10:71737905:C:T Identity +NM_000809.4:c.1402G>C NP_000800.2:p.Ala468Pro NC_000004.12:46928487:C:G p.(Ala468Pro) NC_000004.12:46928487:C:G p.(Ala468Pro) NC_000004.12:46928487:C:G Identity +NM_000798.5:c.723G>T NP_000789.1:p.Met241Ile NC_000004.12:9782751:G:T p.(Met241Ile) NC_000004.12:9782751:G:T p.(Met241Ile) NC_000004.12:9782751:G:T Identity +NM_178857.6:c.3028G>A NP_849188.4:p.Gly1010Arg NC_000008.11:10611069:C:T p.(Gly1010Arg) NC_000008.11:10611069:C:T p.(Gly1010Arg) NC_000008.11:10611069:C:T Identity +NM_001394201.1:c.2549C>G NP_001381130.1:p.Pro850Arg NC_000009.12:136379277:G:C p.(Pro850Arg) NC_000009.12:136379277:G:C p.(Pro850Arg) NC_000009.12:136379277:G:C Identity +NM_001115116.2:c.638C>T NP_001108588.1:p.Thr213Met NC_000002.12:70981955:C:T p.(Thr213Met) NC_000002.12:70981955:C:T p.(Thr213Met) NC_000002.12:70981955:C:T Identity +NM_007113.4:c.3465A>C NP_009044.2:p.Arg1155Ser NC_000001.11:152109751:T:G p.(Arg1155Ser) NC_000001.11:152109751:T:G p.(Arg1155Ser) NC_000001.11:152109751:T:G Identity +NM_001330635.3:c.1519G>A NP_001317564.1:p.Asp507Asn NC_000001.11:70023197:G:A p.(Asp507Asn) NC_000001.11:70023197:G:A p.(Asp507Asn) NC_000001.11:70023197:G:A Identity +NM_015641.4:c.767G>A NP_056456.1:p.Gly256Asp NC_000007.14:116251823:G:A p.(Gly256Asp) NC_000007.14:116251823:G:A p.(Gly256Asp) NC_000007.14:116251823:G:A Identity +NM_001032367.2:c.268G>A NP_001027539.1:p.Ala90Thr NC_000015.10:40844821:G:A p.(Ala90Thr) NC_000015.10:40844821:G:A p.(Ala90Thr) NC_000015.10:40844821:G:A Identity +NM_001080495.3:c.7558G>A NP_001073964.2:p.Ala2520Thr NC_000007.14:5313332:C:T p.(Ala2520Thr) NC_000007.14:5313332:C:T p.(Ala2520Thr) NC_000007.14:5313332:C:T Identity +NM_001013842.3:c.784C>T NP_001013864.1:p.Pro262Ser NC_000008.11:22602216:C:T p.(Pro262Ser) NC_000008.11:22602216:C:T p.(Pro262Ser) NC_000008.11:22602216:C:T Identity +NM_022453.3:c.1019C>A NP_071898.2:p.Pro340His NC_000002.12:218664317:G:T p.(Pro340His) NC_000002.12:218664317:G:T p.(Pro340His) NC_000002.12:218664317:G:T Identity +NM_005297.4:c.196G>A NP_005288.4:p.Val66Met NC_000022.11:40681061:G:A p.(Val66Met) NC_000022.11:40681061:G:A p.(Val66Met) NC_000022.11:40681061:G:A Identity +NM_018593.5:c.40A>C NP_061063.2:p.Thr14Pro NC_000006.12:111087791:A:C p.(Thr14Pro) NC_000006.12:111087791:A:C p.(Thr14Pro) NC_000006.12:111087791:A:C Identity +NM_002421.4:c.178G>C NP_002412.1:p.Val60Leu NC_000011.10:102797427:C:G p.(Val60Leu) NC_000011.10:102797427:C:G p.(Val60Leu) NC_000011.10:102797427:C:G Identity +NM_001096.3:c.281C>T NP_001087.2:p.Thr94Ile NC_000017.11:41912420:G:A p.(Thr94Ile) NC_000017.11:41912420:G:A p.(Thr94Ile) NC_000017.11:41912420:G:A Identity +NM_001331133.1:c.373A>G NP_001318062.1:p.Thr125Ala NC_000019.10:19891811:A:G p.(Thr125Ala) NC_000019.10:19891811:A:G p.(Thr125Ala) NC_000019.10:19891811:A:G Identity +NM_001001411.3:c.1320G>C NP_001001411.2:p.Lys440Asn NC_000019.10:22180396:C:G p.(Lys440Asn) NC_000019.10:22180396:C:G p.(Lys440Asn) NC_000019.10:22180396:C:G Identity +NM_033513.3:c.350A>G NP_277048.2:p.Asn117Ser NC_000019.10:518899:A:G p.(Asn117Ser) NC_000019.10:518899:A:G p.(Asn117Ser) NC_000019.10:518899:A:G Identity +NM_001304561.2:c.1288G>A NP_001291490.1:p.Ala430Thr NC_000006.12:32394815:C:T p.(Ala430Thr) NC_000006.12:32394815:C:T p.(Ala430Thr) NC_000006.12:32394815:C:T Identity +NM_198488.5:c.1908C>A NP_940890.4:p.Phe636Leu NC_000008.11:143727552:G:T p.(Phe636Leu) NC_000008.11:143727552:G:T p.(Phe636Leu) NC_000008.11:143727552:G:T Identity +NM_002565.4:c.725G>A NP_002556.1:p.Arg242His NC_000023.11:70258899:C:T p.(Arg242His) NC_000023.11:70258899:C:T p.(Arg242His) NC_000023.11:70258899:C:T Identity +NM_001024855.3:c.658G>A NP_001020026.1:p.Glu220Lys NC_000003.12:44632487:G:A p.(Glu220Lys) NC_000003.12:44632487:G:A p.(Glu220Lys) NC_000003.12:44632487:G:A Identity +NM_014234.5:c.311C>T NP_055049.1:p.Ala104Val NC_000006.12:33205260:C:T p.(Ala104Val) NC_000006.12:33205260:C:T p.(Ala104Val) NC_000006.12:33205260:C:T Identity +NM_001042683.3:c.2260G>C NP_001036148.2:p.Asp754His NC_000006.12:145941852:C:G p.(Asp754His) NC_000006.12:145941852:C:G p.(Asp754His) NC_000006.12:145941852:C:G Identity +NM_001205301.2:c.2771G>A NP_001192230.1:p.Arg924Gln NC_000005.10:38458369:G:A p.(Arg924Gln) NC_000005.10:38458369:G:A p.(Arg924Gln) NC_000005.10:38458369:G:A Identity +NM_001083621.2:c.1292C>T NP_001077090.1:p.Thr431Met NC_000001.11:22506172:C:T p.(Thr431Met) NC_000001.11:22506172:C:T p.(Thr431Met) NC_000001.11:22506172:C:T Identity +NM_004474.4:c.136C>T NP_004465.3:p.Arg46Cys NC_000001.11:47438270:C:T p.(Arg46Cys) NC_000001.11:47438270:C:T p.(Arg46Cys) NC_000001.11:47438270:C:T Identity +NM_001109662.4:c.2224A>C NP_001103132.4:p.Ile742Leu NC_000012.12:112269800:T:G p.(Ile742Leu) NC_000012.12:112269800:T:G p.(Ile742Leu) NC_000012.12:112269800:T:G Identity +NM_001319043.2:c.1637A>C NP_001305972.1:p.Glu546Ala NC_000003.12:150583864:A:C p.(Glu546Ala) NC_000003.12:150583864:A:C p.(Glu546Ala) NC_000003.12:150583864:A:C Identity +NM_001113525.2:c.923C>G NP_001106997.1:p.Ala308Gly NC_000016.10:89723625:C:G p.(Ala308Gly) NC_000016.10:89723625:C:G p.(Ala308Gly) NC_000016.10:89723625:C:G Identity +NM_001308379.2:c.1046A>T NP_001295308.1:p.Lys349Met NC_000003.12:50341869:T:A p.(Lys349Met) NC_000003.12:50341869:T:A p.(Lys349Met) NC_000003.12:50341869:T:A Identity +NM_004795.4:c.1873G>C NP_004786.2:p.Glu625Gln NC_000013.11:33060951:G:C p.(Glu625Gln) NC_000013.11:33060951:G:C p.(Glu625Gln) NC_000013.11:33060951:G:C Identity +NM_001394024.1:c.2485G>A NP_001380953.1:p.Gly829Arg NC_000020.11:42199245:C:T p.(Gly829Arg) NC_000020.11:42199245:C:T p.(Gly829Arg) NC_000020.11:42199245:C:T Identity +NM_006190.5:c.1421T>G NP_006181.1:p.Leu474Arg NC_000002.12:200920266:A:C p.(Leu474Arg) NC_000002.12:200920266:A:C p.(Leu474Arg) NC_000002.12:200920266:A:C Identity +NM_001144034.2:c.737G>A NP_001137506.1:p.Arg246His NC_000011.10:118534060:G:A p.(Arg246His) NC_000011.10:118534060:G:A p.(Arg246His) NC_000011.10:118534060:G:A Identity +NM_001384360.1:c.301G>T NP_001371289.1:p.Gly101Cys NC_000016.10:72076694:G:T p.(Gly101Cys) NC_000016.10:72076694:G:T p.(Gly101Cys) NC_000016.10:72076694:G:T Identity +NM_002531.3:c.644A>G NP_002522.2:p.Asp215Gly NC_000020.11:62709850:A:G p.(Asp215Gly) NC_000020.11:62709850:A:G p.(Asp215Gly) NC_000020.11:62709850:A:G Identity +NM_001105539.3:c.1643A>G NP_001099009.1:p.Glu548Gly NC_000008.11:80500163:A:G p.(Glu548Gly) NC_000008.11:80500163:A:G p.(Glu548Gly) NC_000008.11:80500163:A:G Identity +NM_001411070.1:c.799G>A NP_001397999.1:p.Glu267Lys NC_000010.11:119902900:G:A p.(Glu267Lys) NC_000010.11:119902900:G:A p.(Glu267Lys) NC_000010.11:119902900:G:A Identity +NM_175737.4:c.872A>G NP_783864.1:p.His291Arg NC_000004.12:39434255:A:G p.(His291Arg) NC_000004.12:39434255:A:G p.(His291Arg) NC_000004.12:39434255:A:G Identity +NM_001242339.2:c.1657G>A NP_001229268.1:p.Asp553Asn NC_000010.11:3120041:G:A p.(Asp553Asn) NC_000010.11:3120041:G:A p.(Asp553Asn) NC_000010.11:3120041:G:A Identity +NM_002016.2:c.7220G>A NP_002007.1:p.Arg2407Lys NC_000001.11:152307665:C:T p.(Arg2407Lys) NC_000001.11:152307665:C:T p.(Arg2407Lys) NC_000001.11:152307665:C:T Identity +NM_001244.4:c.556G>A NP_001235.1:p.Val186Ile NC_000009.12:114904079:C:T p.(Val186Ile) NC_000009.12:114904079:C:T p.(Val186Ile) NC_000009.12:114904079:C:T Identity +NM_001040653.4:c.1889A>G NP_001035743.1:p.Asn630Ser NC_000003.12:126461772:T:C p.(Asn630Ser) NC_000003.12:126461772:T:C p.(Asn630Ser) NC_000003.12:126461772:T:C Identity +NM_001243794.2:c.37C>G NP_001230723.1:p.Leu13Val NC_000007.14:2432675:C:G p.(Leu13Val) NC_000007.14:2432675:C:G p.(Leu13Val) NC_000007.14:2432675:C:G Identity +NM_152372.4:c.331A>G NP_689585.3:p.Thr111Ala NC_000001.11:24107143:T:C p.(Thr111Ala) NC_000001.11:24107143:T:C p.(Thr111Ala) NC_000001.11:24107143:T:C Identity +NM_198317.3:c.1007G>A NP_938073.1:p.Arg336His NC_000001.11:962881:G:A p.(Arg336His) NC_000001.11:962881:G:A p.(Arg336His) NC_000001.11:962881:G:A Identity +NM_001172630.2:c.3122G>A NP_001166101.1:p.Arg1041His NC_000019.10:35788178:G:A p.(Arg1041His) NC_000019.10:35788178:G:A p.(Arg1041His) NC_000019.10:35788178:G:A Identity +NM_001145206.2:c.3632T>C NP_001138678.1:p.Leu1211Pro NC_000022.11:25040761:T:C p.(Leu1211Pro) NC_000022.11:25040761:T:C p.(Leu1211Pro) NC_000022.11:25040761:T:C Identity +NM_001410877.1:c.458G>A NP_001397806.1:p.Arg153His NC_000007.14:47439520:C:T p.(Arg153His) NC_000007.14:47439520:C:T p.(Arg153His) NC_000007.14:47439520:C:T Identity +NM_000862.3:c.232G>T NP_000853.1:p.Val78Phe NC_000001.11:119511588:G:T p.(Val78Phe) NC_000001.11:119511588:G:T p.(Val78Phe) NC_000001.11:119511588:G:T Identity +NM_004288.5:c.647T>C NP_004279.3:p.Met216Thr NC_000002.12:157416109:A:G p.(Met216Thr) NC_000002.12:157416109:A:G p.(Met216Thr) NC_000002.12:157416109:A:G Identity +NM_001307976.2:c.1655C>G NP_001294905.1:p.Ser552Cys NC_000002.12:210075651:G:C p.(Ser552Cys) NC_000002.12:210075651:G:C p.(Ser552Cys) NC_000002.12:210075651:G:C Identity +NM_001098509.2:c.2228G>A NP_001091979.1:p.Ser743Asn NC_000017.11:2375753:G:A p.(Ser743Asn) NC_000017.11:2375753:G:A p.(Ser743Asn) NC_000017.11:2375753:G:A Identity +NM_001365709.1:c.1726G>A NP_001352638.1:p.Ala576Thr NC_000020.11:36030642:G:A p.(Ala576Thr) NC_000020.11:36030642:G:A p.(Ala576Thr) NC_000020.11:36030642:G:A Identity +NM_178134.3:c.841C>T NP_835235.1:p.Arg281Cys NC_000001.11:47094633:C:T p.(Arg281Cys) NC_000001.11:47094633:C:T p.(Arg281Cys) NC_000001.11:47094633:C:T Identity +NM_001134745.3:c.38G>A NP_001128217.1:p.Ser13Asn NC_000002.12:77519830:C:T p.(Ser13Asn) NC_000002.12:77519830:C:T p.(Ser13Asn) NC_000002.12:77519830:C:T Identity +NM_001161841.2:c.654G>A NP_001155313.1:p.Met218Ile NC_000020.11:47690208:C:T p.(Met218Ile) NC_000020.11:47690208:C:T p.(Met218Ile) NC_000020.11:47690208:C:T Identity +NM_001202543.2:c.1686G>A NP_001189472.1:p.Met562Ile NC_000007.14:102197063:G:A p.(Met562Ile) NC_000007.14:102197063:G:A p.(Met562Ile) NC_000007.14:102197063:G:A Identity +NM_014555.4:c.2168G>A NP_055370.1:p.Arg723His NC_000011.10:2412940:C:T p.(Arg723His) NC_000011.10:2412940:C:T p.(Arg723His) NC_000011.10:2412940:C:T Identity +NM_001304392.3:c.481C>T NP_001291321.1:p.Arg161Cys NC_000016.10:57382573:C:T p.(Arg161Cys) NC_000016.10:57382573:C:T p.(Arg161Cys) NC_000016.10:57382573:C:T Identity +NM_001291556.2:c.1279C>T NP_001278485.1:p.Arg427Trp NC_000014.9:24103721:C:T p.(Arg427Trp) NC_000014.9:24103721:C:T p.(Arg427Trp) NC_000014.9:24103721:C:T Identity +NM_148920.4:c.2035C>T NP_683721.1:p.Gln679Ter NC_000016.10:583385:C:T p.(Gln679Ter) NC_000016.10:583385:C:T p.(Gln679Ter) NC_000016.10:583385:C:T Identity +NM_005913.3:c.551C>T NP_005904.1:p.Thr184Ile NC_000018.10:13826315:C:T p.(Thr184Ile) NC_000018.10:13826315:C:T p.(Thr184Ile) NC_000018.10:13826315:C:T Identity +NM_014824.3:c.1190A>G NP_055639.2:p.Gln397Arg NC_000011.10:72867982:T:C p.(Gln397Arg) NC_000011.10:72867982:T:C p.(Gln397Arg) NC_000011.10:72867982:T:C Identity +NM_001320321.2:c.215A>C NP_001307250.1:p.Tyr72Ser NC_000012.12:82896112:A:C p.(Tyr72Ser) NC_000012.12:82896112:A:C p.(Tyr72Ser) NC_000012.12:82896112:A:C Identity +NM_001278197.2:c.946G>A NP_001265126.1:p.Gly316Arg NC_000017.11:47976783:G:A p.(Gly316Arg) NC_000017.11:47976783:G:A p.(Gly316Arg) NC_000017.11:47976783:G:A Identity +NM_001290263.2:c.4360G>C NP_001277192.1:p.Asp1454His NC_000002.12:224801930:C:G p.(Asp1454His) NC_000002.12:224801930:C:G p.(Asp1454His) NC_000002.12:224801930:C:G Identity +NM_001265588.2:c.940G>A NP_001252517.2:p.Glu314Lys NC_000016.10:31915284:G:A p.(Glu314Lys) NC_000016.10:31915284:G:A p.(Glu314Lys) NC_000016.10:31915284:G:A Identity +NM_001080487.4:c.610G>A NP_001073956.2:p.Ala204Thr NC_000016.10:88864896:C:T p.(Ala204Thr) NC_000016.10:88864896:C:T p.(Ala204Thr) NC_000016.10:88864896:C:T Identity +NM_001033026.2:c.1669C>G NP_001028198.1:p.Leu557Val NC_000019.10:1010543:G:C p.(Leu557Val) NC_000019.10:1010543:G:C p.(Leu557Val) NC_000019.10:1010543:G:C Identity +NM_001330467.2:c.317C>T NP_001317396.1:p.Pro106Leu NC_000016.10:4609774:G:A p.(Pro106Leu) NC_000016.10:4609774:G:A p.(Pro106Leu) NC_000016.10:4609774:G:A Identity +NM_001193336.4:c.86C>T NP_001180265.2:p.Ala29Val NC_000022.11:30538870:G:A p.(Ala29Val) NC_000022.11:30538870:G:A p.(Ala29Val) NC_000022.11:30538870:G:A Identity +NM_025055.5:c.99G>C NP_079331.3:p.Lys33Asn NC_000015.10:74244061:G:C p.(Lys33Asn) NC_000015.10:74244061:G:C p.(Lys33Asn) NC_000015.10:74244061:G:C Identity +NM_001038618.3:c.632T>A NP_001033707.1:p.Val211Glu NC_000017.11:82483754:T:A p.(Val211Glu) NC_000017.11:82483754:T:A p.(Val211Glu) NC_000017.11:82483754:T:A Identity +NM_001105.5:c.259C>A NP_001096.1:p.Pro87Thr NC_000002.12:157780408:G:T p.(Pro87Thr) NC_000002.12:157780408:G:T p.(Pro87Thr) NC_000002.12:157780408:G:T Identity +NM_001304458.2:c.1768G>C NP_001291387.1:p.Val590Leu NC_000004.12:147642878:C:G p.(Val590Leu) NC_000004.12:147642878:C:G p.(Val590Leu) NC_000004.12:147642878:C:G Identity +NM_025074.7:c.9589G>A NP_079350.5:p.Val3197Ile NC_000004.12:78508814:G:A p.(Val3197Ile) NC_000004.12:78508814:G:A p.(Val3197Ile) NC_000004.12:78508814:G:A Identity +NM_001286527.3:c.2626G>C NP_001273456.2:p.Val876Leu NC_000016.10:84461770:G:C p.(Val876Leu) NC_000016.10:84461770:G:C p.(Val876Leu) NC_000016.10:84461770:G:C Identity +NM_004279.3:c.838A>T NP_004270.2:p.Thr280Ser NC_000007.14:103307696:A:T p.(Thr280Ser) NC_000007.14:103307696:A:T p.(Thr280Ser) NC_000007.14:103307696:A:T Identity +NM_001256703.1:c.958C>T NP_001243632.1:p.Arg320Cys NC_000006.12:89180428:G:A p.(Arg320Cys) NC_000006.12:89180428:G:A p.(Arg320Cys) NC_000006.12:89180428:G:A Identity +NM_003728.4:c.2388A>T NP_003719.3:p.Lys796Asn NC_000004.12:95182959:T:A p.(Lys796Asn) NC_000004.12:95182959:T:A p.(Lys796Asn) NC_000004.12:95182959:T:A Identity +NM_001014842.3:c.1359G>T NP_001014842.1:p.Glu453Asp NC_000014.9:24190447:C:A p.(Glu453Asp) NC_000014.9:24190447:C:A p.(Glu453Asp) NC_000014.9:24190447:C:A Identity +NM_001014972.3:c.4016A>T NP_001014972.1:p.Asp1339Val NC_000002.12:71423529:A:T p.(Asp1339Val) NC_000002.12:71423529:A:T p.(Asp1339Val) NC_000002.12:71423529:A:T Identity +NM_001305424.2:c.2813T>C NP_001292353.1:p.Leu938Pro NC_000001.11:240207612:T:C p.(Leu938Pro) NC_000001.11:240207612:T:C p.(Leu938Pro) NC_000001.11:240207612:T:C Identity +NM_001145873.1:c.76G>C NP_001139345.1:p.Val26Leu NC_000002.12:86790654:C:G p.(Val26Leu) NC_000002.12:86790654:C:G p.(Val26Leu) NC_000002.12:86790654:C:G Identity +NM_001256430.3:c.1184A>G NP_001243359.1:p.His395Arg NC_000014.9:81278126:T:C p.(His395Arg) NC_000014.9:81278126:T:C p.(His395Arg) NC_000014.9:81278126:T:C Identity +NM_152232.6:c.40C>G NP_689418.2:p.Leu14Val NC_000001.11:18859620:G:C p.(Leu14Val) NC_000001.11:18859620:G:C p.(Leu14Val) NC_000001.11:18859620:G:C Identity +NM_001136156.2:c.1046G>T NP_001129628.1:p.Ser349Ile NC_000019.10:32353875:G:T p.(Ser349Ile) NC_000019.10:32353875:G:T p.(Ser349Ile) NC_000019.10:32353875:G:T Identity +NM_001716.5:c.160G>T NP_001707.1:p.Val54Leu NC_000011.10:118893703:G:T p.(Val54Leu) NC_000011.10:118893703:G:T p.(Val54Leu) NC_000011.10:118893703:G:T Identity +NM_004533.4:c.1757C>T NP_004524.3:p.Thr586Met NC_000019.10:50454026:C:T p.(Thr586Met) NC_000019.10:50454026:C:T p.(Thr586Met) NC_000019.10:50454026:C:T Identity +NM_001077197.2:c.538G>A NP_001070665.1:p.Asp180Asn NC_000002.12:177898071:C:T p.(Asp180Asn) NC_000002.12:177898071:C:T p.(Asp180Asn) NC_000002.12:177898071:C:T Identity +NM_001135823.1:c.377G>A NP_001129295.1:p.Arg126Lys NC_000012.12:26231029:G:A p.(Arg126Lys) NC_000012.12:26231029:G:A p.(Arg126Lys) NC_000012.12:26231029:G:A Identity +NM_001416100.1:c.1057G>A NP_001403029.1:p.Val353Ile NC_000019.10:42407640:C:T p.(Val353Ile) NC_000019.10:42407640:C:T p.(Val353Ile) NC_000019.10:42407640:C:T Identity +NM_001145373.3:c.200T>C NP_001138845.1:p.Val67Ala NC_000010.11:23439656:T:C p.(Val67Ala) NC_000010.11:23439656:T:C p.(Val67Ala) NC_000010.11:23439656:T:C Identity +NM_001159286.2:c.397G>A NP_001152758.1:p.Gly133Arg NC_000022.11:50249956:C:T p.(Gly133Arg) NC_000022.11:50249956:C:T p.(Gly133Arg) NC_000022.11:50249956:C:T Identity +NM_001142644.2:c.3139A>G NP_001136116.1:p.Met1047Val NC_000002.12:228017714:T:C p.(Met1047Val) NC_000002.12:228017714:T:C p.(Met1047Val) NC_000002.12:228017714:T:C Identity +NM_003890.3:c.2225C>A NP_003881.2:p.Pro742His NC_000019.10:39915788:G:T p.(Pro742His) NC_000019.10:39915788:G:T p.(Pro742His) NC_000019.10:39915788:G:T Identity +NM_001242472.2:c.314T>A NP_001229401.1:p.Leu105His NC_000019.10:36877143:T:A p.(Leu105His) NC_000019.10:36877143:T:A p.(Leu105His) NC_000019.10:36877143:T:A Identity +NM_001289034.2:c.1427G>A NP_001275963.1:p.Arg476His NC_000006.12:43072193:G:A p.(Arg476His) NC_000006.12:43072193:G:A p.(Arg476His) NC_000006.12:43072193:G:A Identity +NM_001193451.2:c.754C>T NP_001180380.1:p.Arg252Cys NC_000012.12:29751849:G:A p.(Arg252Cys) NC_000012.12:29751849:G:A p.(Arg252Cys) NC_000012.12:29751849:G:A Identity +NM_001944.3:c.1537G>A NP_001935.2:p.Ala513Thr NC_000018.10:31466654:G:A p.(Ala513Thr) NC_000018.10:31466654:G:A p.(Ala513Thr) NC_000018.10:31466654:G:A Identity +NM_001003681.3:c.716A>G NP_001003681.1:p.His239Arg NC_000022.11:35265103:A:G p.(His239Arg) NC_000022.11:35265103:A:G p.(His239Arg) NC_000022.11:35265103:A:G Identity +NM_206922.3:c.233A>G NP_996805.2:p.Asn78Ser NC_000006.12:43307706:T:C p.(Asn78Ser) NC_000006.12:43307706:T:C p.(Asn78Ser) NC_000006.12:43307706:T:C Identity +NM_001300783.2:c.797G>C NP_001287712.1:p.Gly266Ala NC_000005.10:120686590:G:C p.(Gly266Ala) NC_000005.10:120686590:G:C p.(Gly266Ala) NC_000005.10:120686590:G:C Identity +NM_001173513.3:c.72T>A NP_001166984.1:p.His24Gln NC_000003.12:126654918:A:T p.(His24Gln) NC_000003.12:126654918:A:T p.? NC_000003.12:126654918:A:T Identity +NM_001377488.1:c.2610T>G NP_001364417.1:p.Ile870Met NC_000001.11:232465049:A:C p.(Ile870Met) NC_000001.11:232465049:A:C p.(Ile870Met) NC_000001.11:232465049:A:C Identity +NM_020991.4:c.400A>T NP_066271.1:p.Ser134Cys NC_000017.11:63872632:T:A p.(Ser134Cys) NC_000017.11:63872632:T:A p.(Ser134Cys) NC_000017.11:63872632:T:A Identity +NM_001099289.3:c.2130C>A NP_001092759.1:p.Asp710Glu NC_000002.12:109449470:C:A p.(Asp710Glu) NC_000002.12:109449470:C:A p.(Asp710Glu) NC_000002.12:109449470:C:A Identity +NM_001282656.2:c.322G>A NP_001269585.1:p.Val108Ile NC_000011.10:9474584:G:A p.(Val108Ile) NC_000011.10:9474584:G:A p.(Val108Ile) NC_000011.10:9474584:G:A Identity +NM_001130065.2:c.4470G>T NP_001123537.1:p.Lys1490Asn NC_000019.10:17200735:G:T p.(Lys1490Asn) NC_000019.10:17200735:G:T p.(Lys1490Asn) NC_000019.10:17200735:G:T Identity +NM_001291285.3:c.3509G>C NP_001278214.1:p.Arg1170Thr NC_000004.12:125319919:G:C p.(Arg1170Thr) NC_000004.12:125319919:G:C p.(Arg1170Thr) NC_000004.12:125319919:G:C Identity +NM_178570.3:c.442G>A NP_848665.1:p.Gly148Ser NC_000011.10:57468018:G:A p.(Gly148Ser) NC_000011.10:57468018:G:A p.(Gly148Ser) NC_000011.10:57468018:G:A Identity +NM_001040708.2:c.352G>A NP_001035798.1:p.Asp118Asn NC_000008.11:79765762:C:T p.(Asp118Asn) NC_000008.11:79765762:C:T p.(Asp118Asn) NC_000008.11:79765762:C:T Identity +NM_017581.4:c.1400T>C NP_060051.2:p.Val467Ala NC_000004.12:40354479:T:C p.(Val467Ala) NC_000004.12:40354479:T:C p.(Val467Ala) NC_000004.12:40354479:T:C Identity +NM_001199434.2:c.334A>G NP_001186363.1:p.Met112Val NC_000016.10:69341583:A:G p.(Met112Val) NC_000016.10:69341583:A:G p.(Met112Val) NC_000016.10:69341583:A:G Identity +NM_017553.3:c.2990C>T NP_060023.1:p.Ser997Leu NC_000015.10:41027653:G:A p.(Ser997Leu) NC_000015.10:41027653:G:A p.(Ser997Leu) NC_000015.10:41027653:G:A Identity +NM_014668.4:c.3619G>T NP_055483.2:p.Gly1207Cys NC_000002.12:11618493:G:T p.(Gly1207Cys) NC_000002.12:11618493:G:T p.(Gly1207Cys) NC_000002.12:11618493:G:T Identity +NM_001367197.1:c.1003C>T NP_001354126.1:p.Arg335Trp NC_000019.10:1506807:G:A p.(Arg335Trp) NC_000019.10:1506807:G:A p.(Arg335Trp) NC_000019.10:1506807:G:A Identity +NM_018072.6:c.5680A>G NP_060542.4:p.Asn1894Asp NC_000001.11:236555624:T:C p.(Asn1894Asp) NC_000001.11:236555624:T:C p.(Asn1894Asp) NC_000001.11:236555624:T:C Identity +NM_001365029.1:c.2956C>T NP_001351958.1:p.Arg986Trp NC_000009.12:17416033:C:T p.(Arg986Trp) NC_000009.12:17416033:C:T p.(Arg986Trp) NC_000009.12:17416033:C:T Identity +NM_001319839.2:c.1206G>C NP_001306768.1:p.Gln402His NC_000012.12:125124920:G:C p.(Gln402His) NC_000012.12:125124920:G:C p.(Gln402His) NC_000012.12:125124920:G:C Identity +NM_006536.7:c.1787G>A NP_006527.1:p.Arg596His NC_000001.11:86447580:G:A p.(Arg596His) NC_000001.11:86447580:G:A p.(Arg596His) NC_000001.11:86447580:G:A Identity +NM_005941.5:c.334A>C NP_005932.2:p.Lys112Gln NC_000008.11:88186545:T:G p.(Lys112Gln) NC_000008.11:88186545:T:G p.(Lys112Gln) NC_000008.11:88186545:T:G Identity +NM_006738.6:c.218G>A NP_006729.4:p.Cys73Tyr NC_000015.10:85533619:G:A p.(Cys73Tyr) NC_000015.10:85533619:G:A p.(Cys73Tyr) NC_000015.10:85533619:G:A Identity +NM_001010849.1:c.716C>T NP_001010849.1:p.Pro239Leu NC_000014.9:23276439:G:A ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found +NM_001098503.2:c.1267G>A NP_001091973.1:p.Gly423Arg NC_000011.10:48127952:G:A p.(Gly423Arg) NC_000011.10:48127952:G:A p.(Gly423Arg) NC_000011.10:48127952:G:A Identity +NM_025145.7:c.890C>T NP_079421.5:p.Pro297Leu NC_000010.11:104207669:G:A p.(Pro297Leu) NC_000010.11:104207669:G:A p.(Pro297Leu) NC_000010.11:104207669:G:A Identity +NM_025248.3:c.2647C>T NP_079524.2:p.Leu883Phe NC_000017.11:38551965:G:A p.(Leu883Phe) NC_000017.11:38551965:G:A p.(Leu883Phe) NC_000017.11:38551965:G:A Identity +NM_022481.6:c.1333C>T NP_071926.4:p.Arg445Trp NC_000005.10:141672603:G:A p.(Arg445Trp) NC_000005.10:141672603:G:A p.(Arg445Trp) NC_000005.10:141672603:G:A Identity +NM_001329754.2:c.1235G>A NP_001316683.1:p.Arg412His NC_000006.12:55755551:C:T p.(Arg412His) NC_000006.12:55755551:C:T p.(Arg412His) NC_000006.12:55755551:C:T Identity +NM_001004458.4:c.860C>T NP_001004458.2:p.Pro287Leu NC_000011.10:58215642:C:T p.(Pro287Leu) NC_000011.10:58215642:C:T p.(Pro287Leu) NC_000011.10:58215642:C:T Identity +NM_206880.2:c.213C>A NP_996763.1:p.Asp71Glu NC_000005.10:181155154:C:A p.(Asp71Glu) NC_000005.10:181155154:C:A p.(Asp71Glu) NC_000005.10:181155154:C:A Identity +NM_130767.3:c.575C>A NP_570123.1:p.Pro192His NC_000005.10:81347851:G:T p.(Pro192His) NC_000005.10:81347851:G:T p.(Pro192His) NC_000005.10:81347851:G:T Identity +NM_017520.4:c.2375A>G NP_059990.2:p.Lys792Arg NC_000013.11:19670280:A:G p.(Lys792Arg) NC_000013.11:19670280:A:G p.(Lys792Arg) NC_000013.11:19670280:A:G Identity +NM_001166356.2:c.1294C>T NP_001159828.1:p.Arg432Trp NC_000012.12:57234046:C:T p.(Arg432Trp) NC_000012.12:57234046:C:T p.(Arg432Trp) NC_000012.12:57234046:C:T Identity +NM_022346.5:c.205A>G NP_071741.2:p.Ile69Val NC_000004.12:17812313:A:G p.(Ile69Val) NC_000004.12:17812313:A:G p.(Ile69Val) NC_000004.12:17812313:A:G Identity +NM_001159846.3:c.69C>G NP_001153318.1:p.Asp23Glu NC_000019.10:4343768:C:G p.(Asp23Glu) NC_000019.10:4343768:C:G p.(Asp23Glu) NC_000019.10:4343768:C:G Identity +NM_001330261.2:c.734G>T NP_001317190.1:p.Cys245Phe NC_000017.11:48057074:G:T p.(Cys245Phe) NC_000017.11:48057074:G:T p.(Cys245Phe) NC_000017.11:48057074:G:T Identity +NM_007277.5:c.398T>C NP_009208.2:p.Ile133Thr NC_000005.10:453402:T:C p.(Ile133Thr) NC_000005.10:453402:T:C p.(Ile133Thr) NC_000005.10:453402:T:C Identity +NM_001080452.2:c.1163G>A NP_001073921.1:p.Arg388His NC_000019.10:6732117:C:T p.(Arg388His) NC_000019.10:6732117:C:T p.(Arg388His) NC_000019.10:6732117:C:T Identity +NM_014464.4:c.664G>A NP_055279.3:p.Val222Ile NC_000006.12:54343264:G:A p.(Val222Ile) NC_000006.12:54343264:G:A p.(Val222Ile) NC_000006.12:54343264:G:A Identity +NM_001317784.2:c.128A>G NP_001304713.1:p.Asn43Ser NC_000012.12:100283097:A:G p.(Asn43Ser) NC_000012.12:100283097:A:G p.(Asn43Ser) NC_000012.12:100283097:A:G Identity +NM_001319667.1:c.221G>A NP_001306596.1:p.Arg74His NC_000001.11:169470169:C:T p.(Arg74His) NC_000001.11:169470169:C:T p.(Arg74His) NC_000001.11:169470169:C:T Identity +NM_001114938.3:c.1181C>G NP_001108410.2:p.Pro394Arg NC_000001.11:45621640:G:C p.(Pro394Arg) NC_000001.11:45621640:G:C p.(Pro394Arg) NC_000001.11:45621640:G:C Identity +NM_001271707.2:c.38C>A NP_001258636.1:p.Thr13Lys NC_000003.12:12570081:C:A p.(Thr13Lys) NC_000003.12:12570081:C:A p.(Thr13Lys) NC_000003.12:12570081:C:A Identity +NM_001321431.2:c.1873G>A NP_001308360.1:p.Glu625Lys NC_000019.10:8131670:C:T p.(Glu625Lys) NC_000019.10:8131670:C:T p.(Glu625Lys) NC_000019.10:8131670:C:T Identity +NM_001005388.3:c.2053G>A NP_001005388.2:p.Val685Ile NC_000001.11:204979435:G:A p.(Val685Ile) NC_000001.11:204979435:G:A p.(Val685Ile) NC_000001.11:204979435:G:A Identity +NM_018303.6:c.2214C>G NP_060773.3:p.Phe738Leu NC_000006.12:549198:G:C p.(Phe738Leu) NC_000006.12:549198:G:C p.(Phe738Leu) NC_000006.12:549198:G:C Identity +NM_001031746.5:c.23C>T NP_001026916.2:p.Ala8Val NC_000010.11:49115462:G:A p.(Ala8Val) NC_000010.11:49115462:G:A p.(Ala8Val) NC_000010.11:49115462:G:A Identity +NM_001288772.2:c.3334C>T NP_001275701.1:p.Pro1112Ser NC_000012.12:18538165:C:T p.(Pro1112Ser) NC_000012.12:18538165:C:T p.(Pro1112Ser) NC_000012.12:18538165:C:T Identity +NM_177938.2:c.488C>T NP_808807.2:p.Ala163Val NC_000003.12:49001488:C:T p.(Ala163Val) NC_000003.12:49001488:C:T p.(Ala163Val) NC_000003.12:49001488:C:T Identity +NM_005061.3:c.1002G>C NP_005052.1:p.Lys334Asn NC_000016.10:1945879:C:G p.(Lys334Asn) NC_000016.10:1945879:C:G p.(Lys334Asn) NC_000016.10:1945879:C:G Identity +NM_001166160.2:c.1289A>G NP_001159632.1:p.Asn430Ser NC_000007.14:94911401:A:G p.(Asn430Ser) NC_000007.14:94911401:A:G p.(Asn430Ser) NC_000007.14:94911401:A:G Identity +NM_001329928.2:c.536G>A NP_001316857.1:p.Ser179Asn NC_000016.10:66884819:G:A p.(Ser179Asn) NC_000016.10:66884819:G:A p.(Ser179Asn) NC_000016.10:66884819:G:A Identity +NM_033054.3:c.2035G>A NP_149043.2:p.Gly679Arg NC_000007.14:44966194:C:T p.(Gly679Arg) NC_000007.14:44966194:C:T p.(Gly679Arg) NC_000007.14:44966194:C:T Identity +NM_021217.3:c.1286C>T NP_067040.1:p.Thr429Met NC_000019.10:2933840:G:A p.(Thr429Met) NC_000019.10:2933840:G:A p.(Thr429Met) NC_000019.10:2933840:G:A Identity +NM_001109689.4:c.835G>A NP_001103159.1:p.Glu279Lys NC_000008.11:144882347:C:T p.(Glu279Lys) NC_000008.11:144882347:C:T p.(Glu279Lys) NC_000008.11:144882347:C:T Identity +NM_024119.3:c.1438G>A NP_077024.2:p.Ala480Thr NC_000017.11:42104890:C:T p.(Ala480Thr) NC_000017.11:42104890:C:T p.(Ala480Thr) NC_000017.11:42104890:C:T Identity +NM_001242307.2:c.1576G>A NP_001229236.1:p.Val526Ile NC_000010.11:3155635:C:T p.(Val526Ile) NC_000010.11:3155635:C:T p.(Val526Ile) NC_000010.11:3155635:C:T Identity +NM_001319116.2:c.965G>T NP_001306045.1:p.Gly322Val NC_000002.12:219382134:C:A p.(Gly322Val) NC_000002.12:219382134:C:A p.(Gly322Val) NC_000002.12:219382134:C:A Identity +NM_005422.4:c.4984G>T NP_005413.2:p.Ala1662Ser NC_000011.10:121162081:G:T p.(Ala1662Ser) NC_000011.10:121162081:G:T p.(Ala1662Ser) NC_000011.10:121162081:G:T Identity +NM_001256414.2:c.697A>G NP_001243343.1:p.Ile233Val NC_000007.14:80212847:A:G p.(Ile233Val) NC_000007.14:80212847:A:G p.(Ile233Val) NC_000007.14:80212847:A:G Identity +NM_001174087.2:c.3000A>T NP_001167558.1:p.Gln1000His NC_000020.11:47639970:A:T p.(Gln1000His) NC_000020.11:47639970:A:T p.(Gln1000His) NC_000020.11:47639970:A:T Identity +NM_001114938.3:c.701T>A NP_001108410.2:p.Val234Glu NC_000001.11:45622789:A:T p.(Val234Glu) NC_000001.11:45622789:A:T p.(Val234Glu) NC_000001.11:45622789:A:T Identity +NM_022092.3:c.2618C>T NP_071375.1:p.Pro873Leu NC_000016.10:796976:C:T p.(Pro873Leu) NC_000016.10:796976:C:T p.(Pro873Leu) NC_000016.10:796976:C:T Identity +NM_001318502.2:c.356A>C NP_001305431.1:p.Glu119Ala NC_000009.12:136439063:T:G p.(Glu119Ala) NC_000009.12:136439063:T:G p.(Glu119Ala) NC_000009.12:136439063:T:G Identity +NM_001308315.2:c.222C>A NP_001295244.1:p.Phe74Leu NC_000001.11:115062182:G:T p.(Phe74Leu) NC_000001.11:115062182:G:T p.(Phe74Leu) NC_000001.11:115062182:G:T Identity +NM_001085454.2:c.155G>A NP_001078923.1:p.Arg52His NC_000017.11:29583513:C:T p.(Arg52His) NC_000017.11:29583513:C:T p.(Arg52His) NC_000017.11:29583513:C:T Identity +NM_001134870.2:c.1165C>T NP_001128342.1:p.Pro389Ser NC_000006.12:30684853:G:A p.(Pro389Ser) NC_000006.12:30684853:G:A p.(Pro389Ser) NC_000006.12:30684853:G:A Identity +NM_002927.5:c.58C>T NP_002918.1:p.Pro20Ser NC_000001.11:192644391:C:T p.(Pro20Ser) NC_000001.11:192644391:C:T p.(Pro20Ser) NC_000001.11:192644391:C:T Identity +NM_001077261.4:c.7166G>A NP_001070729.2:p.Arg2389His NC_000012.12:124326219:C:T p.(Arg2389His) NC_000012.12:124326219:C:T p.(Arg2389His) NC_000012.12:124326219:C:T Identity +NM_006020.3:c.450C>A NP_006011.2:p.Phe150Leu NC_000014.9:77694742:G:T p.(Phe150Leu) NC_000014.9:77694742:G:T p.(Phe150Leu) NC_000014.9:77694742:G:T Identity +NM_001350217.2:c.1211C>A NP_001337146.1:p.Pro404His NC_000001.11:66682252:C:A p.(Pro404His) NC_000001.11:66682252:C:A p.(Pro404His) NC_000001.11:66682252:C:A Identity +NM_001080497.3:c.920C>T NP_001073966.2:p.Ser307Phe NC_000009.12:120622638:G:A p.(Ser307Phe) NC_000009.12:120622638:G:A p.(Ser307Phe) NC_000009.12:120622638:G:A Identity +NM_001308022.2:c.950T>C NP_001294951.1:p.Leu317Pro NC_000002.12:217881001:A:G p.(Leu317Pro) NC_000002.12:217881001:A:G p.(Leu317Pro) NC_000002.12:217881001:A:G Identity +NM_015325.3:c.3013G>A NP_056140.1:p.Ala1005Thr NC_000005.10:5462346:G:A p.(Ala1005Thr) NC_000005.10:5462346:G:A p.(Ala1005Thr) NC_000005.10:5462346:G:A Identity +NM_017807.4:c.536A>G NP_060277.1:p.Asn179Ser NC_000014.9:20448984:T:C p.(Asn179Ser) NC_000014.9:20448984:T:C p.(Asn179Ser) NC_000014.9:20448984:T:C Identity +NM_001317926.2:c.2401C>T NP_001304855.1:p.Arg801Cys NC_000009.12:128720226:C:T p.(Arg801Cys) NC_000009.12:128720226:C:T p.(Arg801Cys) NC_000009.12:128720226:C:T Identity +NM_001010867.4:c.323A>G NP_001010867.1:p.Tyr108Cys NC_000001.11:228166138:A:G p.(Tyr108Cys) NC_000001.11:228166138:A:G p.(Tyr108Cys) NC_000001.11:228166138:A:G Identity +NM_001350929.2:c.3251C>A NP_001337858.1:p.Ala1084Asp NC_000014.9:104951899:G:T p.(Ala1084Asp) NC_000014.9:104951899:G:T p.(Ala1084Asp) NC_000014.9:104951899:G:T Identity +NM_001128628.3:c.499C>T NP_001122100.1:p.Arg167Trp NC_000015.10:40266135:C:T p.(Arg167Trp) NC_000015.10:40266135:C:T p.(Arg167Trp) NC_000015.10:40266135:C:T Identity +NM_000296.4:c.8371C>T NP_000287.4:p.Arg2791Trp NC_000016.10:2103685:G:A p.(Arg2791Trp) NC_000016.10:2103685:G:A p.(Arg2791Trp) NC_000016.10:2103685:G:A Identity +NM_015966.3:c.877G>C NP_057050.1:p.Glu293Gln NC_000020.11:35556268:G:C p.(Glu293Gln) NC_000020.11:35556268:G:C p.(Glu293Gln) NC_000020.11:35556268:G:C Identity +NM_022481.6:c.4558C>A NP_071926.4:p.Leu1520Ile NC_000005.10:141654026:G:T p.(Leu1520Ile) NC_000005.10:141654026:G:T p.(Leu1520Ile) NC_000005.10:141654026:G:T Identity +NM_000811.3:c.1252G>C NP_000802.2:p.Asp418His NC_000005.10:161701662:G:C p.(Asp418His) NC_000005.10:161701662:G:C p.(Asp418His) NC_000005.10:161701662:G:C Identity +NM_004666.3:c.734T>C NP_004657.2:p.Leu245Ser NC_000006.12:132693115:A:G p.(Leu245Ser) NC_000006.12:132693115:A:G p.(Leu245Ser) NC_000006.12:132693115:A:G Identity +NM_001134462.2:c.673G>A NP_001127934.1:p.Glu225Lys NC_000002.12:73210845:G:A p.(Glu225Lys) NC_000002.12:73210845:G:A p.(Glu225Lys) NC_000002.12:73210845:G:A Identity +NM_001159547.2:c.263C>T NP_001153019.1:p.Pro88Leu NC_000004.12:42151880:G:A p.(Pro88Leu) NC_000004.12:42151880:G:A p.(Pro88Leu) NC_000004.12:42151880:G:A Identity +NM_005560.6:c.167C>T NP_005551.3:p.Ala56Val NC_000020.11:62367078:G:A p.(Ala56Val) NC_000020.11:62367078:G:A p.(Ala56Val) NC_000020.11:62367078:G:A Identity +NM_001080497.3:c.97G>T NP_001073966.2:p.Ala33Ser NC_000009.12:120714261:C:A p.(Ala33Ser) NC_000009.12:120714261:C:A p.(Ala33Ser) NC_000009.12:120714261:C:A Identity +NM_001161841.2:c.1651G>A NP_001155313.1:p.Val551Ile NC_000020.11:47666413:C:T p.(Val551Ile) NC_000020.11:47666413:C:T p.(Val551Ile) NC_000020.11:47666413:C:T Identity +NM_001098525.3:c.1058T>C NP_001091995.1:p.Val353Ala NC_000013.11:52461880:T:C p.(Val353Ala) NC_000013.11:52461880:T:C p.(Val353Ala) NC_000013.11:52461880:T:C Identity +NM_001255.3:c.1447C>T NP_001246.2:p.Arg483Trp NC_000001.11:43363075:C:T p.(Arg483Trp) NC_000001.11:43363075:C:T p.(Arg483Trp) NC_000001.11:43363075:C:T Identity +NM_001271938.2:c.8422C>T NP_001258867.1:p.His2808Tyr NC_000019.10:42376658:C:T p.(His2808Tyr) NC_000019.10:42376658:C:T p.(His2808Tyr) NC_000019.10:42376658:C:T Identity +NM_001142644.2:c.4910G>T NP_001136116.1:p.Gly1637Val NC_000002.12:227991048:C:A p.(Gly1637Val) NC_000002.12:227991048:C:A p.(Gly1637Val) NC_000002.12:227991048:C:A Identity +NM_016333.4:c.79C>T NP_057417.3:p.Arg27Trp NC_000016.10:2756442:C:T p.(Arg27Trp) NC_000016.10:2756442:C:T p.(Arg27Trp) NC_000016.10:2756442:C:T Identity +NM_001142334.2:c.718A>G NP_001135806.1:p.Met240Val NC_000016.10:7630643:A:G p.(Met240Val) NC_000016.10:7630643:A:G p.(Met240Val) NC_000016.10:7630643:A:G Identity +NM_001394862.1:c.179G>C NP_001381791.1:p.Arg60Pro NC_000012.12:11268069:C:G p.(Arg60Pro) NC_000012.12:11268069:C:G p.(Arg60Pro) NC_000012.12:11268069:C:G Identity +NM_001300735.2:c.742C>T NP_001287664.1:p.Arg248Trp NC_000004.12:81445822:G:A p.(Arg248Trp) NC_000004.12:81445822:G:A p.(Arg248Trp) NC_000004.12:81445822:G:A Identity +NM_015073.3:c.4945G>A NP_055888.1:p.Glu1649Lys NC_000019.10:38198492:G:A p.(Glu1649Lys) NC_000019.10:38198492:G:A p.(Glu1649Lys) NC_000019.10:38198492:G:A Identity +NM_174937.4:c.323T>C NP_777597.2:p.Phe108Ser NC_000010.11:131311312:A:G p.(Phe108Ser) NC_000010.11:131311312:A:G p.(Phe108Ser) NC_000010.11:131311312:A:G Identity +NM_001083899.2:c.632G>A NP_001077368.2:p.Arg211Gln NC_000019.10:55025249:C:T p.(Arg211Gln) NC_000019.10:55025249:C:T p.(Arg211Gln) NC_000019.10:55025249:C:T Identity +NM_031923.4:c.941G>A NP_114129.1:p.Arg314His NC_000010.11:7964450:G:A p.(Arg314His) NC_000010.11:7964450:G:A p.(Arg314His) NC_000010.11:7964450:G:A Identity +NM_145807.4:c.514C>A NP_665806.1:p.Pro172Thr NC_000019.10:48670472:G:T p.(Pro172Thr) NC_000019.10:48670472:G:T p.(Pro172Thr) NC_000019.10:48670472:G:T Identity +NM_004922.4:c.542C>G NP_004913.2:p.Ser181Cys NC_000010.11:73760077:C:G p.(Ser181Cys) NC_000010.11:73760077:C:G p.(Ser181Cys) NC_000010.11:73760077:C:G Identity +NM_001414244.1:c.1468G>C NP_001401173.1:p.Gly490Arg NC_000012.12:12179886:C:G p.(Gly490Arg) NC_000012.12:12179886:C:G p.(Gly490Arg) NC_000012.12:12179886:C:G Identity +NM_005800.5:c.261T>A NP_005791.3:p.Asn87Lys NC_000013.11:30630866:T:A p.(Asn87Lys) NC_000013.11:30630866:T:A p.(Asn87Lys) NC_000013.11:30630866:T:A Identity +NM_001004480.1:c.598G>A NP_001004480.1:p.Gly200Ser NC_000014.9:20224306:G:A p.(Gly200Ser) NC_000014.9:20224306:G:A p.(Gly200Ser) NC_000014.9:20224306:G:A Identity +NM_001134453.3:c.1028C>T NP_001127925.1:p.Pro343Leu NC_000018.10:31399293:C:T p.(Pro343Leu) NC_000018.10:31399293:C:T p.(Pro343Leu) NC_000018.10:31399293:C:T Identity +NM_001281504.2:c.337C>T NP_001268433.1:p.Pro113Ser NC_000019.10:10546870:C:T p.(Pro113Ser) NC_000019.10:10546870:C:T p.(Pro113Ser) NC_000019.10:10546870:C:T Identity +NM_001286609.2:c.1292C>T NP_001273538.1:p.Pro431Leu NC_000006.12:108953222:C:T p.(Pro431Leu) NC_000006.12:108953222:C:T p.(Pro431Leu) NC_000006.12:108953222:C:T Identity +NM_001317009.2:c.1910C>T NP_001303938.1:p.Thr637Met NC_000021.9:34709494:C:T p.(Thr637Met) NC_000021.9:34709494:C:T p.(Thr637Met) NC_000021.9:34709494:C:T Identity +NM_001285439.2:c.2165C>G NP_001272368.1:p.Thr722Ser NC_000005.10:38959207:G:C p.(Thr722Ser) NC_000005.10:38959207:G:C p.(Thr722Ser) NC_000005.10:38959207:G:C Identity +NM_001198815.1:c.749C>T NP_001185744.1:p.Ala250Val NC_000006.12:31026179:C:T p.(Ala250Val) NC_000006.12:31026179:C:T p.(Ala250Val) NC_000006.12:31026179:C:T Identity +NM_001164484.2:c.819G>C NP_001157956.1:p.Glu273Asp NC_000010.11:49131645:C:G p.(Glu273Asp) NC_000010.11:49131645:C:G p.(Glu273Asp) NC_000010.11:49131645:C:G Identity +NM_001160.3:c.2672G>A NP_001151.1:p.Arg891His NC_000012.12:98708696:G:A p.(Arg891His) NC_000012.12:98708696:G:A p.(Arg891His) NC_000012.12:98708696:G:A Identity +NM_001040118.3:c.2158C>T NP_001035207.1:p.Arg720Trp NC_000011.10:72702913:G:A p.(Arg720Trp) NC_000011.10:72702913:G:A p.(Arg720Trp) NC_000011.10:72702913:G:A Identity +NM_013940.4:c.400G>C NP_039228.1:p.Val134Leu NC_000019.10:15807637:C:G p.(Val134Leu) NC_000019.10:15807637:C:G p.(Val134Leu) NC_000019.10:15807637:C:G Identity +NM_030785.4:c.343A>G NP_110412.1:p.Thr115Ala NC_000019.10:45814833:T:C p.(Thr115Ala) NC_000019.10:45814833:T:C p.(Thr115Ala) NC_000019.10:45814833:T:C Identity +NM_001178145.3:c.502A>G NP_001171616.2:p.Arg168Gly NC_000003.12:151437995:T:C p.(Arg168Gly) NC_000003.12:151437995:T:C p.(Arg168Gly) NC_000003.12:151437995:T:C Identity +NM_001410976.1:c.1066C>T NP_001397905.1:p.Arg356Trp NC_000012.12:49329205:C:T p.(Arg356Trp) NC_000012.12:49329205:C:T p.(Arg356Trp) NC_000012.12:49329205:C:T Identity +NM_020877.5:c.7088T>C NP_065928.2:p.Ile2363Thr NC_000017.11:7792285:T:C p.(Ile2363Thr) NC_000017.11:7792285:T:C p.(Ile2363Thr) NC_000017.11:7792285:T:C Identity +NM_001143783.1:c.623G>A NP_001137255.1:p.Arg208Gln NC_000015.10:90889433:G:A p.(Arg208Gln) NC_000015.10:90889433:G:A p.(Arg208Gln) NC_000015.10:90889433:G:A Identity +NM_001386980.1:c.779C>T NP_001373909.1:p.Ala260Val NC_000002.12:69960909:G:A ERR:Data provider error: ValueError: Transcript NM_001386980.1 not found ERR:Data provider error: ValueError: Transcript NM_001386980.1 not found ERR:AlignmentMapper(tx_ac=NM_001386980.1, alt_ac=NM_001386980.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001386980.1, alt_ac=NM_001386980.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001386980.1 not found +NM_001173393.3:c.568G>A NP_001166864.1:p.Val190Ile NC_000005.10:157052465:C:T p.(Val190Ile) NC_000005.10:157052465:C:T p.(Val190Ile) NC_000005.10:157052465:C:T Identity +NM_001145312.3:c.607C>T NP_001138784.1:p.Arg203Cys NC_000001.11:157125772:G:A p.(Arg203Cys) NC_000001.11:157125772:G:A p.(Arg203Cys) NC_000001.11:157125772:G:A Identity +NM_001303618.2:c.25G>C NP_001290547.1:p.Ala9Pro NC_000018.10:69947381:C:G p.(Ala9Pro) NC_000018.10:69947381:C:G p.(Ala9Pro) NC_000018.10:69947381:C:G Identity +NM_022820.5:c.560C>T NP_073731.1:p.Thr187Ile NC_000007.14:99849583:C:T p.(Thr187Ile) NC_000007.14:99849583:C:T p.(Thr187Ile) NC_000007.14:99849583:C:T Identity +NM_001007527.2:c.193A>G NP_001007528.1:p.Lys65Glu NC_000005.10:36142580:T:C p.(Lys65Glu) NC_000005.10:36142580:T:C p.(Lys65Glu) NC_000005.10:36142580:T:C Identity +NM_020877.5:c.3209A>G NP_065928.2:p.Glu1070Gly NC_000017.11:7764145:A:G p.(Glu1070Gly) NC_000017.11:7764145:A:G p.(Glu1070Gly) NC_000017.11:7764145:A:G Identity +NM_181713.4:c.163G>A NP_859064.2:p.Ala55Thr NC_000002.12:23971396:G:A p.(Ala55Thr) NC_000002.12:23971396:G:A p.(Ala55Thr) NC_000002.12:23971396:G:A Identity +NM_001362481.2:c.1898G>A NP_001349410.1:p.Cys633Tyr NC_000004.12:67508819:C:T p.(Cys633Tyr) NC_000004.12:67508819:C:T p.(Cys633Tyr) NC_000004.12:67508819:C:T Identity +NM_001042601.3:c.803A>G NP_001036066.1:p.Glu268Gly NC_000003.12:180604952:A:G p.(Glu268Gly) NC_000003.12:180604952:A:G p.(Glu268Gly) NC_000003.12:180604952:A:G Identity +NM_013324.7:c.701G>A NP_037456.5:p.Arg234Lys NC_000003.12:50607733:C:T p.(Arg234Lys) NC_000003.12:50607733:C:T p.(Arg234Lys) NC_000003.12:50607733:C:T Identity +NM_001416202.1:c.3679G>A NP_001403131.1:p.Ala1227Thr NC_000012.12:53062386:G:A p.(Ala1227Thr) NC_000012.12:53062386:G:A p.(Ala1227Thr) NC_000012.12:53062386:G:A Identity +NM_001135095.2:c.494T>C NP_001128567.1:p.Ile165Thr NC_000003.12:172247761:T:C p.(Ile165Thr) NC_000003.12:172247761:T:C p.(Ile165Thr) NC_000003.12:172247761:T:C Identity +NM_001278708.2:c.1553C>G NP_001265637.1:p.Ala518Gly NC_000003.12:184306487:C:G p.(Ala518Gly) NC_000003.12:184306487:C:G p.(Ala518Gly) NC_000003.12:184306487:C:G Identity +NM_173077.3:c.547A>C NP_775100.1:p.Asn183His NC_000002.12:206960914:A:C p.(Asn183His) NC_000002.12:206960914:A:C p.(Asn183His) NC_000002.12:206960914:A:C Identity +NM_053045.2:c.317C>A NP_444273.1:p.Ala106Glu NC_000009.12:137205097:G:T p.(Ala106Glu) NC_000009.12:137205097:G:T p.(Ala106Glu) NC_000009.12:137205097:G:T Identity +NM_130848.3:c.502G>A NP_570900.1:p.Glu168Lys NC_000005.10:135446606:C:T p.(Glu168Lys) NC_000005.10:135446606:C:T p.(Glu168Lys) NC_000005.10:135446606:C:T Identity +NM_001145416.2:c.493T>C NP_001138888.1:p.Ser165Pro NC_000019.10:11342891:A:G p.(Ser165Pro) NC_000019.10:11342891:A:G p.(Ser165Pro) NC_000019.10:11342891:A:G Identity +NM_001364015.1:c.615G>T NP_001350944.1:p.Leu205Phe NC_000005.10:163442061:G:T p.(Leu205Phe) NC_000005.10:163442061:G:T p.(Leu205Phe) NC_000005.10:163442061:G:T Identity +NM_001198815.1:c.3992C>T NP_001185744.1:p.Ala1331Val NC_000006.12:31029422:C:T p.(Ala1331Val) NC_000006.12:31029422:C:T p.(Ala1331Val) NC_000006.12:31029422:C:T Identity +NM_005195.4:c.518C>T NP_005186.2:p.Ala173Val NC_000008.11:47737602:G:A p.(Ala173Val) NC_000008.11:47737602:G:A p.(Ala173Val) NC_000008.11:47737602:G:A Identity +NM_001034954.3:c.2729C>T NP_001030126.2:p.Pro910Leu NC_000010.11:95339268:G:A p.(Pro910Leu) NC_000010.11:95339268:G:A p.(Pro910Leu) NC_000010.11:95339268:G:A Identity +NM_001322080.2:c.278C>T NP_001309009.1:p.Ala93Val NC_000002.12:102723875:G:A p.(Ala93Val) NC_000002.12:102723875:G:A p.(Ala93Val) NC_000002.12:102723875:G:A Identity +NM_001199144.2:c.8125A>G NP_001186073.1:p.Lys2709Glu NC_000002.12:167250182:A:G p.(Lys2709Glu) NC_000002.12:167250182:A:G p.(Lys2709Glu) NC_000002.12:167250182:A:G Identity +NM_001360869.2:c.449C>T NP_001347798.1:p.Pro150Leu NC_000001.11:20148342:C:T p.(Pro150Leu) NC_000001.11:20148342:C:T p.(Pro150Leu) NC_000001.11:20148342:C:T Identity +NM_001004712.2:c.229T>C NP_001004712.1:p.Phe77Leu NC_000014.9:20014964:A:G p.(Phe77Leu) NC_000014.9:20014964:A:G p.(Phe77Leu) NC_000014.9:20014964:A:G Identity +NM_003802.3:c.3536G>A NP_003793.2:p.Arg1179His NC_000017.11:10318991:C:T p.(Arg1179His) NC_000017.11:10318991:C:T p.(Arg1179His) NC_000017.11:10318991:C:T Identity +NM_178310.4:c.19G>C NP_840101.1:p.Val7Leu NC_000016.10:88686387:C:G p.(Val7Leu) NC_000016.10:88686387:C:G p.(Val7Leu) NC_000016.10:88686387:C:G Identity +NM_001008237.3:c.124G>A NP_001008238.1:p.Ala42Thr NC_000002.12:19901730:C:T p.(Ala42Thr) NC_000002.12:19901730:C:T p.(Ala42Thr) NC_000002.12:19901730:C:T Identity +NM_001394201.1:c.2760G>C NP_001381130.1:p.Gln920His NC_000009.12:136379066:C:G p.(Gln920His) NC_000009.12:136379066:C:G p.(Gln920His) NC_000009.12:136379066:C:G Identity +NM_001161407.2:c.388C>T NP_001154879.1:p.Pro130Ser NC_000013.11:79520875:C:T p.(Pro130Ser) NC_000013.11:79520875:C:T p.(Pro130Ser) NC_000013.11:79520875:C:T Identity +NM_001080554.4:c.361C>A NP_001074023.1:p.Pro121Thr NC_000012.12:13090505:G:T p.(Pro121Thr) NC_000012.12:13090505:G:T p.(Pro121Thr) NC_000012.12:13090505:G:T Identity +NM_001370212.1:c.1234G>C NP_001357141.1:p.Gly412Arg NC_000001.11:33299016:G:C p.(Gly412Arg) NC_000001.11:33299016:G:C p.(Gly412Arg) NC_000001.11:33299016:G:C Identity +NM_003206.4:c.385G>T NP_003197.2:p.Ala129Ser NC_000006.12:133889781:G:T p.(Ala129Ser) NC_000006.12:133889781:G:T p.(Ala129Ser) NC_000006.12:133889781:G:T Identity +NM_001305141.3:c.394G>A NP_001292070.1:p.Gly132Ser NC_000016.10:4466287:C:T p.(Gly132Ser) NC_000016.10:4466287:C:T p.(Gly132Ser) NC_000016.10:4466287:C:T Identity +NM_153692.4:c.391G>A NP_710159.1:p.Ala131Thr NC_000008.11:38974653:G:A p.(Ala131Thr) NC_000008.11:38974653:G:A p.(Ala131Thr) NC_000008.11:38974653:G:A Identity +NM_001304458.2:c.1292T>C NP_001291387.1:p.Val431Ala NC_000004.12:147654265:A:G p.(Val431Ala) NC_000004.12:147654265:A:G p.(Val431Ala) NC_000004.12:147654265:A:G Identity +NM_001122835.3:c.43G>A NP_001116307.2:p.Gly15Ser NC_000001.11:230978787:C:T p.(Gly15Ser) NC_000001.11:230978787:C:T p.(Gly15Ser) NC_000001.11:230978787:C:T Identity +NM_001271969.2:c.1345C>T NP_001258898.1:p.Arg449Cys NC_000006.12:44251766:C:T p.(Arg449Cys) NC_000006.12:44251766:C:T p.(Arg449Cys) NC_000006.12:44251766:C:T Identity +NM_019592.7:c.1691G>C NP_062538.5:p.Arg564Pro NC_000009.12:101552542:G:C p.(Arg564Pro) NC_000009.12:101552542:G:C p.(Arg564Pro) NC_000009.12:101552542:G:C Identity +NM_001130065.2:c.5051C>A NP_001123537.1:p.Thr1684Asn NC_000019.10:17205322:C:A p.(Thr1684Asn) NC_000019.10:17205322:C:A p.(Thr1684Asn) NC_000019.10:17205322:C:A Identity +NM_004210.5:c.790G>C NP_004201.3:p.Glu264Gln NC_000010.11:103584675:G:C p.(Glu264Gln) NC_000010.11:103584675:G:C p.(Glu264Gln) NC_000010.11:103584675:G:C Identity +NM_178468.6:c.917C>T NP_848563.1:p.Pro306Leu NC_000020.11:35287861:G:A p.(Pro306Leu) NC_000020.11:35287861:G:A p.(Pro306Leu) NC_000020.11:35287861:G:A Identity +NM_001178061.3:c.1157G>A NP_001171532.1:p.Arg386Gln NC_000001.11:151136112:C:T p.(Arg386Gln) NC_000001.11:151136112:C:T p.(Arg386Gln) NC_000001.11:151136112:C:T Identity +NM_001394447.1:c.3073A>G NP_001381376.1:p.Ile1025Val NC_000011.10:85726281:T:C p.(Ile1025Val) NC_000011.10:85726281:T:C p.(Ile1025Val) NC_000011.10:85726281:T:C Identity +NM_001286715.1:c.2980C>T NP_001273644.1:p.Pro994Ser NC_000009.12:85588376:G:A p.(Pro994Ser) NC_000009.12:85588376:G:A p.(Pro994Ser) NC_000009.12:85588376:G:A Identity +NM_012311.4:c.827G>A NP_036443.1:p.Arg276Gln NC_000010.11:7766074:C:T p.(Arg276Gln) NC_000010.11:7766074:C:T p.(Arg276Gln) NC_000010.11:7766074:C:T Identity +NM_018059.5:c.2684C>T NP_060529.4:p.Pro895Leu NC_000007.14:4801810:G:A p.(Pro895Leu) NC_000007.14:4801810:G:A p.(Pro895Leu) NC_000007.14:4801810:G:A Identity +NM_001105533.1:c.254A>G NP_001099003.1:p.Lys85Arg NC_000007.14:121015668:A:G p.(Lys85Arg) NC_000007.14:121015668:A:G p.(Lys85Arg) NC_000007.14:121015668:A:G Identity +NM_001130852.1:c.473C>A NP_001124324.1:p.Thr158Asn NC_000019.10:44781023:C:A p.(Thr158Asn) NC_000019.10:44781023:C:A p.(Thr158Asn) NC_000019.10:44781023:C:A Identity +NM_173651.4:c.9312G>A NP_775922.3:p.Met3104Ile NC_000002.12:185796447:G:A p.(Met3104Ile) NC_000002.12:185796447:G:A p.(Met3104Ile) NC_000002.12:185796447:G:A Identity +NM_003386.3:c.5638G>A NP_003377.2:p.Gly1880Arg NC_000007.14:100773723:G:A p.(Gly1880Arg) NC_000007.14:100773723:G:A p.(Gly1880Arg) NC_000007.14:100773723:G:A Identity +NM_001291978.2:c.1379C>T NP_001278907.1:p.Pro460Leu NC_000004.12:2948311:G:A p.(Pro460Leu) NC_000004.12:2948311:G:A p.(Pro460Leu) NC_000004.12:2948311:G:A Identity +NM_001410846.1:c.4448A>G NP_001397775.1:p.His1483Arg NC_000020.11:49017383:A:G p.(His1483Arg) NC_000020.11:49017383:A:G p.(His1483Arg) NC_000020.11:49017383:A:G Identity +NM_003088.4:c.1462G>A NP_003079.1:p.Ala488Thr NC_000007.14:5605453:G:A p.(Ala488Thr) NC_000007.14:5605453:G:A p.(Ala488Thr) NC_000007.14:5605453:G:A Identity +NM_053043.3:c.2863C>T NP_444271.2:p.Arg955Trp NC_000007.14:155745485:C:T p.(Arg955Trp) NC_000007.14:155745485:C:T p.(Arg955Trp) NC_000007.14:155745485:C:T Identity +NM_033229.3:c.1216C>A NP_150232.2:p.Leu406Met NC_000006.12:30172166:C:A p.(Leu406Met) NC_000006.12:30172166:C:A p.(Leu406Met) NC_000006.12:30172166:C:A Identity +NM_207338.4:c.478C>A NP_997221.2:p.Gln160Lys NC_000015.10:66563517:G:T p.(Gln160Lys) NC_000015.10:66563517:G:T p.(Gln160Lys) NC_000015.10:66563517:G:T Identity +NM_001346218.2:c.660C>G NP_001333147.1:p.Asn220Lys NC_000014.9:93487702:C:G p.(Asn220Lys) NC_000014.9:93487702:C:G p.(Asn220Lys) NC_000014.9:93487702:C:G Identity +NM_003775.4:c.149G>A NP_003766.1:p.Arg50Gln NC_000019.10:3178940:G:A p.(Arg50Gln) NC_000019.10:3178940:G:A p.(Arg50Gln) NC_000019.10:3178940:G:A Identity +NM_001010870.3:c.967G>T NP_001010870.1:p.Asp323Tyr NC_000006.12:46689094:G:T p.(Asp323Tyr) NC_000006.12:46689094:G:T p.(Asp323Tyr) NC_000006.12:46689094:G:T Identity +NM_133264.5:c.287G>A NP_573571.1:p.Arg96Gln NC_000017.11:40262614:G:A p.(Arg96Gln) NC_000017.11:40262614:G:A p.(Arg96Gln) NC_000017.11:40262614:G:A Identity +NM_001330305.2:c.1354G>A NP_001317234.1:p.Val452Met NC_000012.12:57094688:G:A p.(Val452Met) NC_000012.12:57094688:G:A p.(Val452Met) NC_000012.12:57094688:G:A Identity +NM_015354.3:c.4102A>G NP_056169.1:p.Ser1368Gly NC_000009.12:129001940:A:G p.(Ser1368Gly) NC_000009.12:129001940:A:G p.(Ser1368Gly) NC_000009.12:129001940:A:G Identity +NM_018079.5:c.2527A>G NP_060549.4:p.Ile843Val NC_000002.12:45393115:T:C p.(Ile843Val) NC_000002.12:45393115:T:C p.(Ile843Val) NC_000002.12:45393115:T:C Identity +NM_001134665.3:c.65A>G NP_001128137.1:p.Asn22Ser NC_000004.12:99559273:T:C p.(Asn22Ser) NC_000004.12:99559273:T:C p.(Asn22Ser) NC_000004.12:99559273:T:C Identity +NM_001318533.2:c.283C>T NP_001305462.1:p.Arg95Ter NC_000011.10:113324642:C:T p.(Arg95Ter) NC_000011.10:113324642:C:T p.(Arg95Ter) NC_000011.10:113324642:C:T Identity +NM_001135554.2:c.1846G>A NP_001129026.1:p.Gly616Arg NC_000006.12:130863705:C:T p.(Gly616Arg) NC_000006.12:130863705:C:T p.(Gly616Arg) NC_000006.12:130863705:C:T Identity +NM_001270539.2:c.346C>T NP_001257468.1:p.Arg116Trp NC_000019.10:7482114:G:A p.(Arg116Trp) NC_000019.10:7482114:G:A p.(Arg116Trp) NC_000019.10:7482114:G:A Identity +NM_015527.4:c.2182C>T NP_056342.3:p.Arg728Trp NC_000016.10:30358188:G:A p.(Arg728Trp) NC_000016.10:30358188:G:A p.(Arg728Trp) NC_000016.10:30358188:G:A Identity +NM_032656.4:c.1261C>T NP_116045.2:p.Arg421Trp NC_000012.12:124968898:G:A p.(Arg421Trp) NC_000012.12:124968898:G:A p.(Arg421Trp) NC_000012.12:124968898:G:A Identity +NM_001303040.2:c.1678C>T NP_001289969.1:p.Arg560Cys NC_000001.11:145899192:G:A p.(Arg560Cys) NC_000001.11:145899192:G:A p.(Arg560Cys) NC_000001.11:145899192:G:A Identity +NM_001320977.2:c.2677G>A NP_001307906.1:p.Asp893Asn NC_000015.10:90913364:G:A p.(Asp893Asn) NC_000015.10:90913364:G:A p.(Asp893Asn) NC_000015.10:90913364:G:A Identity +NM_001037335.2:c.4906C>T NP_001032412.2:p.Arg1636Cys NC_000020.11:63563915:G:A p.(Arg1636Cys) NC_000020.11:63563915:G:A p.(Arg1636Cys) NC_000020.11:63563915:G:A Identity +NM_001394011.1:c.2599C>G NP_001380940.1:p.Arg867Gly NC_000019.10:5223126:G:C p.(Arg867Gly) NC_000019.10:5223126:G:C p.(Arg867Gly) NC_000019.10:5223126:G:C Identity +NM_001281736.2:c.623G>A NP_001268665.1:p.Arg208His NC_000023.11:130670035:C:T p.(Arg208His) NC_000023.11:130670035:C:T p.(Arg208His) NC_000023.11:130670035:C:T Identity +NM_001207020.3:c.103T>G NP_001193949.1:p.Ser35Ala NC_000022.11:41914564:A:C p.(Ser35Ala) NC_000022.11:41914564:A:C p.(Ser35Ala) NC_000022.11:41914564:A:C Identity +NM_001130413.4:c.352G>A NP_001123885.2:p.Glu118Lys NC_000001.11:1283977:G:A p.(Glu118Lys) NC_000001.11:1283977:G:A p.(Glu118Lys) NC_000001.11:1283977:G:A Identity +NM_003966.3:c.1702C>T NP_003957.2:p.Arg568Cys NC_000005.10:9122734:G:A p.(Arg568Cys) NC_000005.10:9122734:G:A p.(Arg568Cys) NC_000005.10:9122734:G:A Identity +NM_005475.3:c.676C>T NP_005466.1:p.Arg226Trp NC_000012.12:111418820:C:T p.(Arg226Trp) NC_000012.12:111418820:C:T p.(Arg226Trp) NC_000012.12:111418820:C:T Identity +NM_001105570.2:c.389G>A NP_001099040.1:p.Arg130Gln NC_000019.10:32692348:G:A p.(Arg130Gln) NC_000019.10:32692348:G:A p.(Arg130Gln) NC_000019.10:32692348:G:A Identity +NM_007240.3:c.500C>T NP_009171.1:p.Ala167Val NC_000001.11:161751906:C:T p.(Ala167Val) NC_000001.11:161751906:C:T p.(Ala167Val) NC_000001.11:161751906:C:T Identity +NM_001716.5:c.322G>A NP_001707.1:p.Val108Met NC_000011.10:118893865:G:A p.(Val108Met) NC_000011.10:118893865:G:A p.(Val108Met) NC_000011.10:118893865:G:A Identity +NM_001317009.2:c.1688A>G NP_001303938.1:p.His563Arg NC_000021.9:34708722:A:G p.(His563Arg) NC_000021.9:34708722:A:G p.(His563Arg) NC_000021.9:34708722:A:G Identity +NM_016602.3:c.68C>T NP_057686.2:p.Ser23Leu NC_000017.11:42680573:G:A p.(Ser23Leu) NC_000017.11:42680573:G:A p.(Ser23Leu) NC_000017.11:42680573:G:A Identity +NM_014668.4:c.721G>A NP_055483.2:p.Glu241Lys NC_000002.12:11578379:G:A p.(Glu241Lys) NC_000002.12:11578379:G:A p.(Glu241Lys) NC_000002.12:11578379:G:A Identity +NM_001130720.3:c.178C>T NP_001124192.1:p.Pro60Ser NC_000007.14:129225253:C:T p.(Pro60Ser) NC_000007.14:129225253:C:T p.(Pro60Ser) NC_000007.14:129225253:C:T Identity +NM_006990.5:c.941C>T NP_008921.1:p.Pro314Leu NC_000001.11:27410089:G:A p.(Pro314Leu) NC_000001.11:27410089:G:A p.(Pro314Leu) NC_000001.11:27410089:G:A Identity +NM_003960.4:c.448C>G NP_003951.3:p.Arg150Gly NC_000002.12:73641180:G:C p.(Arg150Gly) NC_000002.12:73641180:G:C p.(Arg150Gly) NC_000002.12:73641180:G:C Identity +NM_001144013.2:c.559C>T NP_001137485.1:p.Arg187Cys NC_000002.12:106452772:G:A p.(Arg187Cys) NC_000002.12:106452772:G:A p.(Arg187Cys) NC_000002.12:106452772:G:A Identity +NM_001284301.3:c.1681C>G NP_001271230.1:p.Gln561Glu NC_000007.14:36419401:C:G p.(Gln561Glu) NC_000007.14:36419401:C:G p.(Gln561Glu) NC_000007.14:36419401:C:G Identity +NM_001005291.3:c.1409C>G NP_001005291.1:p.Pro470Arg NC_000017.11:17817780:G:C p.(Pro470Arg) NC_000017.11:17817780:G:C p.(Pro470Arg) NC_000017.11:17817780:G:C Identity +NM_001168360.1:c.3308G>A NP_001161832.1:p.Arg1103His NC_000023.11:92387897:G:A p.(Arg1103His) NC_000023.11:92387897:G:A p.(Arg1103His) NC_000023.11:92387897:G:A Identity +NM_001256264.2:c.92G>A NP_001243193.1:p.Arg31His NC_000017.11:18256957:C:T p.(Arg31His) NC_000017.11:18256957:C:T p.(Arg31His) NC_000017.11:18256957:C:T Identity +NM_001166160.2:c.460G>A NP_001159632.1:p.Gly154Arg NC_000007.14:94910572:G:A p.(Gly154Arg) NC_000007.14:94910572:G:A p.(Gly154Arg) NC_000007.14:94910572:G:A Identity +NM_001244580.2:c.9292T>G NP_001231509.1:p.Cys3098Gly NC_000007.14:98984349:T:G p.(Cys3098Gly) NC_000007.14:98984349:T:G p.(Cys3098Gly) NC_000007.14:98984349:T:G Identity +NM_001040282.2:c.1196G>A NP_001035372.2:p.Arg399Gln NC_000017.11:36166448:C:T ERR:Data provider error: ValueError: Transcript NM_001040282.2 not found ERR:Data provider error: ValueError: Transcript NM_001040282.2 not found ERR:AlignmentMapper(tx_ac=NM_001040282.2, alt_ac=NM_001040282.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001040282.2, alt_ac=NM_001040282.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001040282.2 not found +NM_014227.3:c.629T>C NP_055042.1:p.Ile210Thr NC_000022.11:32237278:A:G p.(Ile210Thr) NC_000022.11:32237278:A:G p.(Ile210Thr) NC_000022.11:32237278:A:G Identity +NM_002428.4:c.298G>A NP_002419.1:p.Glu100Lys NC_000016.10:58037606:G:A p.(Glu100Lys) NC_000016.10:58037606:G:A p.(Glu100Lys) NC_000016.10:58037606:G:A Identity +NM_001031854.2:c.412C>T NP_001027025.2:p.Arg138Cys NC_000011.10:44048447:C:T p.(Arg138Cys) NC_000011.10:44048447:C:T p.(Arg138Cys) NC_000011.10:44048447:C:T Identity +NM_015726.4:c.400C>T NP_056541.2:p.Arg134Trp NC_000001.11:160240019:G:A p.(Arg134Trp) NC_000001.11:160240019:G:A p.(Arg134Trp) NC_000001.11:160240019:G:A Identity +NM_001288792.2:c.232G>A NP_001275721.1:p.Glu78Lys NC_000019.10:54058428:C:T p.(Glu78Lys) NC_000019.10:54058428:C:T p.(Glu78Lys) NC_000019.10:54058428:C:T Identity +NM_001003818.3:c.1504C>A NP_001003818.1:p.Pro502Thr NC_000011.10:5611294:C:A p.(Pro502Thr) NC_000011.10:5611294:C:A p.(Pro502Thr) NC_000011.10:5611294:C:A Identity +NM_001080450.3:c.1484G>A NP_001073919.1:p.Arg495His NC_000006.12:107069706:C:T p.(Arg495His) NC_000006.12:107069706:C:T p.(Arg495His) NC_000006.12:107069706:C:T Identity +NM_001317926.2:c.1543C>T NP_001304855.1:p.Arg515Cys NC_000009.12:128714622:C:T p.(Arg515Cys) NC_000009.12:128714622:C:T p.(Arg515Cys) NC_000009.12:128714622:C:T Identity +NM_007156.5:c.388G>A NP_009087.1:p.Ala130Thr NC_000023.11:57910032:C:T p.(Ala130Thr) NC_000023.11:57910032:C:T p.(Ala130Thr) NC_000023.11:57910032:C:T Identity +NM_001040454.1:c.736G>A NP_001035544.1:p.Val246Met NC_000003.12:48631752:C:T p.(Val246Met) NC_000003.12:48631752:C:T p.(Val246Met) NC_000003.12:48631752:C:T Identity +NM_001005187.1:c.250G>A NP_001005187.1:p.Val84Ile NC_000011.10:123943588:C:T p.(Val84Ile) NC_000011.10:123943588:C:T p.(Val84Ile) NC_000011.10:123943588:C:T Identity +NM_001365693.1:c.704G>A NP_001352622.1:p.Arg235His NC_000007.14:142021730:G:A p.(Arg235His) NC_000007.14:142021730:G:A p.(Arg235His) NC_000007.14:142021730:G:A Identity +NM_001303447.2:c.1243C>T NP_001290376.1:p.Arg415Cys NC_000016.10:11692027:G:A p.(Arg415Cys) NC_000016.10:11692027:G:A p.(Arg415Cys) NC_000016.10:11692027:G:A Identity +NM_001329998.2:c.7568G>A NP_001316927.1:p.Arg2523Gln NC_000003.12:36832014:C:T p.(Arg2523Gln) NC_000003.12:36832014:C:T p.(Arg2523Gln) NC_000003.12:36832014:C:T Identity +NM_003890.3:c.8218G>C NP_003881.2:p.Glu2740Gln NC_000019.10:39902094:C:G ERR:TranscriptMismatch:expected G, found A at transcript indices 8233..8234 NC_000019.10:39885999:T:G ERR:NM_003890.3:c.8218G>C: Variant reference (G) does not agree with reference sequence (A) ERR:NM_003890.3:c.8218G>C: Variant reference (G) does not agree with reference sequence (A) Unknown +NM_001257190.3:c.2189T>C NP_001244119.1:p.Phe730Ser NC_000007.14:72942976:T:C p.(Phe730Ser) NC_000007.14:72942976:T:C p.(Phe730Ser) NC_000007.14:72942976:T:C Identity +NM_207361.6:c.6680C>T NP_997244.4:p.Pro2227Leu NC_000013.11:38851045:C:T p.(Pro2227Leu) NC_000013.11:38851045:C:T p.(Pro2227Leu) NC_000013.11:38851045:C:T Identity +NM_001278443.2:c.1665C>A NP_001265372.2:p.His555Gln NC_000019.10:17286479:C:A p.(His555Gln) NC_000019.10:17286479:C:A p.(His555Gln) NC_000019.10:17286479:C:A Identity +NM_001009566.3:c.1210A>G NP_001009566.1:p.Ile404Val NC_000001.11:9744418:T:C p.(Ile404Val) NC_000001.11:9744418:T:C p.(Ile404Val) NC_000001.11:9744418:T:C Identity +NM_138287.3:c.2080G>A NP_612144.1:p.Val694Ile NC_000003.12:122570598:G:A p.(Val694Ile) NC_000003.12:122570598:G:A p.(Val694Ile) NC_000003.12:122570598:G:A Identity +NM_021826.5:c.1445T>G NP_068598.1:p.Leu482Trp NC_000020.11:3147625:A:C p.(Leu482Trp) NC_000020.11:3147625:A:C p.(Leu482Trp) NC_000020.11:3147625:A:C Identity +NM_001164741.2:c.157A>G NP_001158213.1:p.Met53Val NC_000023.11:153921719:T:C p.(Met53Val) NC_000023.11:153921719:T:C p.(Met53Val) NC_000023.11:153921719:T:C Identity +NM_001281517.3:c.389T>C NP_001268446.1:p.Ile130Thr NC_000001.11:26255503:T:C p.(Ile130Thr) NC_000001.11:26255503:T:C p.(Ile130Thr) NC_000001.11:26255503:T:C Identity +NM_001386435.1:c.197C>T NP_001373364.1:p.Thr66Met NC_000003.12:45946677:C:T p.(Thr66Met) NC_000003.12:45946677:C:T p.(Thr66Met) NC_000003.12:45946677:C:T Identity +NM_001330724.2:c.911T>C NP_001317653.1:p.Val304Ala NC_000004.12:75598185:A:G p.(Val304Ala) NC_000004.12:75598185:A:G p.(Val304Ala) NC_000004.12:75598185:A:G Identity +NM_018398.3:c.2730C>A NP_060868.2:p.Asn910Lys NC_000003.12:55004801:C:A p.(Asn910Lys) NC_000003.12:55004801:C:A p.(Asn910Lys) NC_000003.12:55004801:C:A Identity +NM_178580.3:c.1163C>T NP_848695.1:p.Pro388Leu NC_000020.11:31568205:C:T p.(Pro388Leu) NC_000020.11:31568205:C:T p.(Pro388Leu) NC_000020.11:31568205:C:T Identity +NM_001199659.3:c.481A>C NP_001186588.1:p.Thr161Pro NC_000008.11:38394217:A:C p.(Thr161Pro) NC_000008.11:38394217:A:C p.(Thr161Pro) NC_000008.11:38394217:A:C Identity +NM_001318758.2:c.224C>T NP_001305687.1:p.Pro75Leu NC_000009.12:33294617:C:T p.(Pro75Leu) NC_000009.12:33294617:C:T p.(Pro75Leu) NC_000009.12:33294617:C:T Identity +NM_001040458.3:c.805G>C NP_001035548.1:p.Val269Leu NC_000005.10:96795155:C:G p.(Val269Leu) NC_000005.10:96795155:C:G p.(Val269Leu) NC_000005.10:96795155:C:G Identity +NM_014668.4:c.4037C>T NP_055483.2:p.Pro1346Leu NC_000002.12:11618911:C:T p.(Pro1346Leu) NC_000002.12:11618911:C:T p.(Pro1346Leu) NC_000002.12:11618911:C:T Identity +NM_001308080.2:c.134C>T NP_001295009.1:p.Ala45Val NC_000005.10:116091121:C:T p.(Ala45Val) NC_000005.10:116091121:C:T p.(Ala45Val) NC_000005.10:116091121:C:T Identity +NM_178140.4:c.6277G>A NP_835260.2:p.Val2093Met NC_000005.10:32089724:G:A p.(Val2093Met) NC_000005.10:32089724:G:A p.(Val2093Met) NC_000005.10:32089724:G:A Identity +NM_001365116.2:c.7514T>C NP_001352045.1:p.Val2505Ala NC_000003.12:47008082:T:C p.(Val2505Ala) NC_000003.12:47008082:T:C p.(Val2505Ala) NC_000003.12:47008082:T:C Identity +NM_001199378.2:c.1006C>T NP_001186307.1:p.Leu336Phe NC_000010.11:102358723:C:T p.(Leu336Phe) NC_000010.11:102358723:C:T p.(Leu336Phe) NC_000010.11:102358723:C:T Identity +NM_001098623.2:c.22726G>T NP_001092093.2:p.Val7576Phe NC_000001.11:228375763:G:T p.(Val7576Phe) NC_000001.11:228375763:G:T p.(Val7576Phe) NC_000001.11:228375763:G:T Identity +NM_182757.4:c.44A>G NP_877434.2:p.Glu15Gly NC_000006.12:18399577:A:G p.(Glu15Gly) NC_000006.12:18399577:A:G p.(Glu15Gly) NC_000006.12:18399577:A:G Identity +NM_001013706.3:c.758C>T NP_001013728.2:p.Pro253Leu NC_000019.10:4525038:G:A p.(Pro253Leu) NC_000019.10:4525038:G:A p.(Pro253Leu) NC_000019.10:4525038:G:A Identity +NM_001102594.3:c.469A>G NP_001096064.1:p.Thr157Ala NC_000007.14:76482707:A:G p.(Thr157Ala) NC_000007.14:76482707:A:G p.(Thr157Ala) NC_000007.14:76482707:A:G Identity +NM_001284417.2:c.331T>C NP_001271346.1:p.Tyr111His NC_000015.10:99729682:A:G p.(Tyr111His) NC_000015.10:99729682:A:G p.(Tyr111His) NC_000015.10:99729682:A:G Identity +NM_001100397.2:c.1564G>A NP_001093867.1:p.Gly522Ser NC_000002.12:173017491:G:A p.(Gly522Ser) NC_000002.12:173017491:G:A p.(Gly522Ser) NC_000002.12:173017491:G:A Identity +NM_001282394.3:c.4999C>T NP_001269323.1:p.Pro1667Ser NC_000009.12:93289998:C:T p.(Pro1667Ser) NC_000009.12:93289998:C:T p.(Pro1667Ser) NC_000009.12:93289998:C:T Identity +NM_000332.4:c.1073C>G NP_000323.2:p.Ser358Cys NC_000006.12:16327237:G:C p.(Ser358Cys) NC_000006.12:16327237:G:C p.(Ser358Cys) NC_000006.12:16327237:G:C Identity +NM_139285.4:c.509A>G NP_644814.1:p.Gln170Arg NC_000017.11:35750194:T:C p.(Gln170Arg) NC_000017.11:35750194:T:C p.(Gln170Arg) NC_000017.11:35750194:T:C Identity +NM_001130065.2:c.2180T>G NP_001123537.1:p.Leu727Arg NC_000019.10:17175701:T:G p.(Leu727Arg) NC_000019.10:17175701:T:G p.(Leu727Arg) NC_000019.10:17175701:T:G Identity +NM_001300812.3:c.241G>A NP_001287741.1:p.Val81Met NC_000019.10:643260:G:A p.(Val81Met) NC_000019.10:643260:G:A p.(Val81Met) NC_000019.10:643260:G:A Identity +NM_005646.4:c.4623T>G NP_005637.3:p.Ile1541Met NC_000001.11:234392489:A:C p.(Ile1541Met) NC_000001.11:234392489:A:C p.(Ile1541Met) NC_000001.11:234392489:A:C Identity +NM_000212.3:c.527G>A NP_000203.2:p.Arg176Gln NC_000017.11:47284607:G:A p.(Arg176Gln) NC_000017.11:47284607:G:A p.(Arg176Gln) NC_000017.11:47284607:G:A Identity +NM_001206747.2:c.403G>A NP_001193676.1:p.Val135Ile NC_000007.14:116506073:G:A p.(Val135Ile) NC_000007.14:116506073:G:A p.(Val135Ile) NC_000007.14:116506073:G:A Identity +NM_053284.3:c.503C>T NP_444514.1:p.Pro168Leu NC_000016.10:632912:C:T p.(Pro168Leu) NC_000016.10:632912:C:T p.(Pro168Leu) NC_000016.10:632912:C:T Identity +NM_000766.5:c.491A>G NP_000757.2:p.His164Arg NC_000019.10:41090193:A:G p.(His164Arg) NC_000019.10:41090193:A:G p.(His164Arg) NC_000019.10:41090193:A:G Identity +NM_001007101.4:c.661G>A NP_001007102.1:p.Val221Ile NC_000009.12:92848017:C:T p.(Val221Ile) NC_000009.12:92848017:C:T p.(Val221Ile) NC_000009.12:92848017:C:T Identity +NM_001098668.4:c.136G>A NP_001092138.1:p.Gly46Arg NC_000010.11:79559347:C:T p.(Gly46Arg) NC_000010.11:79559347:C:T p.(Gly46Arg) NC_000010.11:79559347:C:T Identity +NM_000876.4:c.2159A>G NP_000867.3:p.His720Arg NC_000006.12:160047265:A:G p.(His720Arg) NC_000006.12:160047265:A:G p.(His720Arg) NC_000006.12:160047265:A:G Identity +NM_004498.4:c.563G>A NP_004489.1:p.Gly188Asp NC_000015.10:52789321:C:T p.(Gly188Asp) NC_000015.10:52789321:C:T p.(Gly188Asp) NC_000015.10:52789321:C:T Identity +NM_003716.4:c.2651G>A NP_003707.2:p.Arg884His NC_000003.12:62499216:C:T p.(Arg884His) NC_000003.12:62499216:C:T p.(Arg884His) NC_000003.12:62499216:C:T Identity +NM_000420.3:c.1538G>A NP_000411.1:p.Arg513Gln NC_000007.14:142943836:C:T p.(Arg513Gln) NC_000007.14:142943836:C:T p.(Arg513Gln) NC_000007.14:142943836:C:T Identity +NM_001012509.4:c.743G>A NP_001012527.2:p.Gly248Asp NC_000005.10:33963835:C:T p.(Gly248Asp) NC_000005.10:33963835:C:T p.(Gly248Asp) NC_000005.10:33963835:C:T Identity +NM_005646.4:c.3170G>A NP_005637.3:p.Gly1057Glu NC_000001.11:234427656:C:T p.(Gly1057Glu) NC_000001.11:234427656:C:T p.(Gly1057Glu) NC_000001.11:234427656:C:T Identity +NM_173628.4:c.13330A>G NP_775899.3:p.Thr4444Ala NC_000017.11:78423964:T:C p.(Thr4444Ala) NC_000017.11:78423964:T:C p.(Thr4444Ala) NC_000017.11:78423964:T:C Identity +NM_001394862.1:c.302G>A NP_001381791.1:p.Gly101Glu NC_000012.12:11267946:C:T p.(Gly101Glu) NC_000012.12:11267946:C:T p.(Gly101Glu) NC_000012.12:11267946:C:T Identity +NM_001207076.3:c.22T>C NP_001194005.1:p.Tyr8His NC_000020.11:35968783:T:C p.(Tyr8His) NC_000020.11:35968783:T:C p.(Tyr8His) NC_000020.11:35968783:T:C Identity +NM_018923.3:c.1949G>T NP_061746.1:p.Gly650Val NC_000005.10:141362083:G:T p.(Gly650Val) NC_000005.10:141362083:G:T p.(Gly650Val) NC_000005.10:141362083:G:T Identity +NM_001165974.2:c.1963G>A NP_001159446.1:p.Val655Met NC_000003.12:126488204:C:T p.(Val655Met) NC_000003.12:126488204:C:T p.(Val655Met) NC_000003.12:126488204:C:T Identity +NM_016231.5:c.197A>G NP_057315.3:p.Gln66Arg NC_000017.11:28043069:A:G p.(Gln66Arg) NC_000017.11:28043069:A:G p.(Gln66Arg) NC_000017.11:28043069:A:G Identity +NM_001173988.2:c.505G>A NP_001167459.1:p.Val169Met NC_000009.12:136831766:G:A p.(Val169Met) NC_000009.12:136831766:G:A p.(Val169Met) NC_000009.12:136831766:G:A Identity +NM_015492.5:c.1118C>T NP_056307.3:p.Pro373Leu NC_000015.10:75207165:C:T p.(Pro373Leu) NC_000015.10:75207165:C:T p.(Pro373Leu) NC_000015.10:75207165:C:T Identity +NM_002840.5:c.3026C>T NP_002831.2:p.Pro1009Leu NC_000001.11:43604177:C:T p.(Pro1009Leu) NC_000001.11:43604177:C:T p.(Pro1009Leu) NC_000001.11:43604177:C:T Identity +NM_001168364.2:c.371G>A NP_001161836.1:p.Gly124Asp NC_000002.12:27443170:G:A p.(Gly124Asp) NC_000002.12:27443170:G:A p.(Gly124Asp) NC_000002.12:27443170:G:A Identity +NM_005775.5:c.760A>G NP_005766.3:p.Arg254Gly NC_000008.11:22564366:A:G p.(Arg254Gly) NC_000008.11:22564366:A:G p.(Arg254Gly) NC_000008.11:22564366:A:G Identity +NM_130386.3:c.329C>T NP_569057.2:p.Thr110Ile NC_000018.10:347292:G:A p.(Thr110Ile) NC_000018.10:347292:G:A p.(Thr110Ile) NC_000018.10:347292:G:A Identity +NM_003952.3:c.310G>A NP_003943.2:p.Ala104Thr NC_000011.10:67431367:G:A p.(Ala104Thr) NC_000011.10:67431367:G:A p.(Ala104Thr) NC_000011.10:67431367:G:A Identity +NM_017570.5:c.232C>T NP_060040.1:p.Arg78Cys NC_000008.11:144059729:G:A p.(Arg78Cys) NC_000008.11:144059729:G:A p.(Arg78Cys) NC_000008.11:144059729:G:A Identity +NM_194449.4:c.4858C>T NP_919431.2:p.Arg1620Cys NC_000018.10:62979134:C:T p.(Arg1620Cys) NC_000018.10:62979134:C:T p.(Arg1620Cys) NC_000018.10:62979134:C:T Identity +NM_004474.4:c.1027T>G NP_004465.3:p.Ser343Ala NC_000001.11:47439161:T:G p.(Ser343Ala) NC_000001.11:47439161:T:G p.(Ser343Ala) NC_000001.11:47439161:T:G Identity +NM_014598.4:c.409G>A NP_055413.2:p.Val137Ile NC_000017.11:38352460:G:A p.(Val137Ile) NC_000017.11:38352460:G:A p.(Val137Ile) NC_000017.11:38352460:G:A Identity +NM_001290259.2:c.2404G>C NP_001277188.1:p.Ala802Pro NC_000006.12:63694751:G:C p.(Ala802Pro) NC_000006.12:63694751:G:C p.(Ala802Pro) NC_000006.12:63694751:G:C Identity +NM_001289403.2:c.1131C>G NP_001276332.1:p.Phe377Leu NC_000010.11:97467541:G:C p.(Phe377Leu) NC_000010.11:97467541:G:C p.(Phe377Leu) NC_000010.11:97467541:G:C Identity +NM_001008563.5:c.1171C>T NP_001008563.2:p.Arg391Cys NC_000009.12:129868896:C:T p.(Arg391Cys) NC_000009.12:129868896:C:T p.(Arg391Cys) NC_000009.12:129868896:C:T Identity +NM_020759.3:c.6065C>T NP_065810.2:p.Ser2022Leu NC_000015.10:42687642:C:T p.(Ser2022Leu) NC_000015.10:42687642:C:T p.(Ser2022Leu) NC_000015.10:42687642:C:T Identity +NM_001321057.1:c.460A>C NP_001307986.1:p.Asn154His NC_000019.10:55923976:T:G p.(Asn154His) NC_000019.10:55923976:T:G p.(Asn154His) NC_000019.10:55923976:T:G Identity +NM_000338.3:c.1799C>T NP_000329.2:p.Ala600Val NC_000015.10:48251626:C:T p.(Ala600Val) NC_000015.10:48251626:C:T p.(Ala600Val) NC_000015.10:48251626:C:T Identity +NM_001172698.2:c.325G>A NP_001166169.1:p.Gly109Ser NC_000005.10:149826744:G:A p.(Gly109Ser) NC_000005.10:149826744:G:A p.(Gly109Ser) NC_000005.10:149826744:G:A Identity +NM_014981.3:c.1641C>A NP_055796.2:p.Asn547Lys NC_000003.12:108464727:G:T p.(Asn547Lys) NC_000003.12:108464727:G:T p.(Asn547Lys) NC_000003.12:108464727:G:T Identity +NM_153813.3:c.1919G>A NP_722520.2:p.Gly640Asp NC_000016.10:88533876:G:A p.(Gly640Asp) NC_000016.10:88533876:G:A p.(Gly640Asp) NC_000016.10:88533876:G:A Identity +NM_001318192.2:c.1744A>T NP_001305121.1:p.Met582Leu NC_000007.14:135684125:T:A p.(Met582Leu) NC_000007.14:135684125:T:A p.(Met582Leu) NC_000007.14:135684125:T:A Identity +NM_001164746.2:c.206A>T NP_001158218.1:p.Tyr69Phe NC_000012.12:26064599:A:T p.(Tyr69Phe) NC_000012.12:26064599:A:T p.(Tyr69Phe) NC_000012.12:26064599:A:T Identity +NM_001161407.2:c.16A>T NP_001154879.1:p.Ser6Cys NC_000013.11:79481218:A:T p.(Ser6Cys) NC_000013.11:79481218:A:T p.(Ser6Cys) NC_000013.11:79481218:A:T Identity +NM_148894.3:c.53C>T NP_683692.2:p.Pro18Leu NC_000004.12:13627534:G:A p.(Pro18Leu) NC_000004.12:13627534:G:A p.(Pro18Leu) NC_000004.12:13627534:G:A Identity +NM_001012320.3:c.521T>C NP_001012320.1:p.Leu174Ser NC_000019.10:34684557:T:C p.(Leu174Ser) NC_000019.10:34684557:T:C p.(Leu174Ser) NC_000019.10:34684557:T:C Identity +NM_031280.4:c.190G>A NP_112570.2:p.Asp64Asn NC_000001.11:36462148:C:T p.(Asp64Asn) NC_000001.11:36462148:C:T p.(Asp64Asn) NC_000001.11:36462148:C:T Identity +NM_198582.4:c.1228A>G NP_940984.3:p.Lys410Glu NC_000002.12:238147910:A:G p.(Lys410Glu) NC_000002.12:238147910:A:G p.(Lys410Glu) NC_000002.12:238147910:A:G Identity +NM_001013703.4:c.3767G>A NP_001013725.2:p.Arg1256Gln NC_000015.10:40016508:G:A p.(Arg1256Gln) NC_000015.10:40016508:G:A p.(Arg1256Gln) NC_000015.10:40016508:G:A Identity +NM_001324062.2:c.2221C>T NP_001310991.1:p.Arg741Trp NC_000001.11:222629440:C:T p.(Arg741Trp) NC_000001.11:222629440:C:T p.(Arg741Trp) NC_000001.11:222629440:C:T Identity +NM_001010870.3:c.869C>T NP_001010870.1:p.Ser290Phe NC_000006.12:46688996:C:T p.(Ser290Phe) NC_000006.12:46688996:C:T p.(Ser290Phe) NC_000006.12:46688996:C:T Identity +NM_033132.5:c.145G>C NP_149123.3:p.Ala49Pro NC_000013.11:99971458:C:G p.(Ala49Pro) NC_000013.11:99971458:C:G p.(Ala49Pro) NC_000013.11:99971458:C:G Identity +NM_001286829.2:c.38C>G NP_001273758.1:p.Ala13Gly NC_000008.11:143578280:G:C p.(Ala13Gly) NC_000008.11:143578280:G:C p.(Ala13Gly) NC_000008.11:143578280:G:C Identity +NM_001321463.2:c.352G>A NP_001308392.1:p.Ala118Thr NC_000019.10:3192636:G:A p.(Ala118Thr) NC_000019.10:3192636:G:A p.(Ala118Thr) NC_000019.10:3192636:G:A Identity +NM_001003801.2:c.983G>A NP_001003801.1:p.Arg328His NC_000007.14:151240478:C:T p.(Arg328His) NC_000007.14:151240478:C:T p.(Arg328His) NC_000007.14:151240478:C:T Identity +NM_018702.4:c.1084G>A NP_061172.1:p.Ala362Thr NC_000010.11:1271062:C:T p.(Ala362Thr) NC_000010.11:1271062:C:T p.(Ala362Thr) NC_000010.11:1271062:C:T Identity +NM_001304564.2:c.1031C>T NP_001291493.1:p.Ala344Val NC_000022.11:39513961:C:T p.(Ala344Val) NC_000022.11:39513961:C:T p.(Ala344Val) NC_000022.11:39513961:C:T Identity +NM_001142397.2:c.417C>G NP_001135869.1:p.His139Gln NC_000018.10:48664536:C:G p.(His139Gln) NC_000018.10:48664536:C:G p.(His139Gln) NC_000018.10:48664536:C:G Identity +NM_001251962.2:c.71C>T NP_001238891.1:p.Pro24Leu NC_000003.12:154122062:C:T p.(Pro24Leu) NC_000003.12:154122062:C:T p.(Pro24Leu) NC_000003.12:154122062:C:T Identity +NM_001330452.2:c.176C>T NP_001317381.1:p.Ala59Val NC_000012.12:113207990:G:A p.(Ala59Val) NC_000012.12:113207990:G:A p.(Ala59Val) NC_000012.12:113207990:G:A Identity +NM_001243738.2:c.1460G>A NP_001230667.1:p.Arg487Gln NC_000006.12:33293422:C:T p.(Arg487Gln) NC_000006.12:33293422:C:T p.(Arg487Gln) NC_000006.12:33293422:C:T Identity +NM_001001668.4:c.632C>T NP_001001668.3:p.Thr211Ile NC_000019.10:56577060:C:T p.(Thr211Ile) NC_000019.10:56577060:C:T p.(Thr211Ile) NC_000019.10:56577060:C:T Identity +NM_001136538.2:c.1870G>A NP_001130010.1:p.Ala624Thr NC_000012.12:111744704:G:A p.(Ala624Thr) NC_000012.12:111744704:G:A p.(Ala624Thr) NC_000012.12:111744704:G:A Identity +NM_001039674.1:c.1819C>T NP_001034763.1:p.Arg607Trp NC_000017.11:5144689:C:T ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found ERR:AlignmentMapper(tx_ac=NM_001039674.1, alt_ac=NM_001039674.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001039674.1, alt_ac=NM_001039674.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found +NM_001144884.2:c.662C>T NP_001138356.1:p.Pro221Leu NC_000001.11:100918082:C:T p.(Pro221Leu) NC_000001.11:100918082:C:T p.(Pro221Leu) NC_000001.11:100918082:C:T Identity +NM_001101421.4:c.1709G>C NP_001094891.4:p.Arg570Pro NC_000012.12:109424811:G:C p.(Arg570Pro) NC_000012.12:109424811:G:C p.(Arg570Pro) NC_000012.12:109424811:G:C Identity +NM_001144950.2:c.615C>A NP_001138422.1:p.His205Gln NC_000019.10:55490799:C:A p.(His205Gln) NC_000019.10:55490799:C:A p.(His205Gln) NC_000019.10:55490799:C:A Identity +NM_001205329.2:c.630G>T NP_001192258.1:p.Leu210Phe NC_000011.10:134148616:G:T p.(Leu210Phe) NC_000011.10:134148616:G:T p.(Leu210Phe) NC_000011.10:134148616:G:T Identity +NM_001199324.2:c.2188C>T NP_001186253.1:p.His730Tyr NC_000019.10:51992920:G:A p.(His730Tyr) NC_000019.10:51992920:G:A p.(His730Tyr) NC_000019.10:51992920:G:A Identity +NM_001290331.2:c.409G>C NP_001277260.1:p.Gly137Arg NC_000019.10:6477099:C:G p.(Gly137Arg) NC_000019.10:6477099:C:G p.(Gly137Arg) NC_000019.10:6477099:C:G Identity +NM_001005609.2:c.179G>A NP_001005609.1:p.Cys60Tyr NC_000023.11:69616486:G:A p.(Cys60Tyr) NC_000023.11:69616486:G:A p.(Cys60Tyr) NC_000023.11:69616486:G:A Identity +NM_012121.5:c.880G>A NP_036253.2:p.Gly294Ser NC_000017.11:73285620:C:T p.(Gly294Ser) NC_000017.11:73285620:C:T p.(Gly294Ser) NC_000017.11:73285620:C:T Identity +NM_001163940.2:c.2117A>G NP_001157412.1:p.Lys706Arg NC_000014.9:50908913:T:C p.(Lys706Arg) NC_000014.9:50908913:T:C p.(Lys706Arg) NC_000014.9:50908913:T:C Identity +NM_001190720.3:c.1993G>C NP_001177649.2:p.Glu665Gln NC_000008.11:42329193:G:C p.(Glu665Gln) NC_000008.11:42329193:G:C p.(Glu665Gln) NC_000008.11:42329193:G:C Identity +NM_002114.4:c.937A>C NP_002105.3:p.Asn313His NC_000006.12:12120731:A:C p.(Asn313His) NC_000006.12:12120731:A:C p.(Asn313His) NC_000006.12:12120731:A:C Identity +NM_001170585.2:c.3353T>C NP_001164056.1:p.Ile1118Thr NC_000002.12:28620601:T:C p.(Ile1118Thr) NC_000002.12:28620601:T:C p.(Ile1118Thr) NC_000002.12:28620601:T:C Identity +NM_001407805.1:c.3455C>T NP_001394734.1:p.Thr1152Ile NC_000019.10:617837:G:A p.(Thr1152Ile) NC_000019.10:617837:G:A p.(Thr1152Ile) NC_000019.10:617837:G:A Identity +NM_153700.2:c.590G>A NP_714544.1:p.Ser197Asn NC_000015.10:43617830:C:T p.(Ser197Asn) NC_000015.10:43617830:C:T p.(Ser197Asn) NC_000015.10:43617830:C:T Identity +NM_006985.4:c.826C>T NP_008916.2:p.Pro276Ser NC_000016.10:14951797:C:T p.(Pro276Ser) NC_000016.10:14951797:C:T p.(Pro276Ser) NC_000016.10:14951797:C:T Identity +NM_001035521.3:c.770T>G NP_001030598.1:p.Val257Gly NC_000002.12:27342032:A:C p.(Val257Gly) NC_000002.12:27342032:A:C p.(Val257Gly) NC_000002.12:27342032:A:C Identity +NM_001099408.2:c.55G>A NP_001092878.1:p.Glu19Lys NC_000005.10:176643120:G:A p.(Glu19Lys) NC_000005.10:176643120:G:A p.(Glu19Lys) NC_000005.10:176643120:G:A Identity +NM_004289.7:c.1821A>T NP_004280.5:p.Glu607Asp NC_000007.14:26185518:A:T p.(Glu607Asp) NC_000007.14:26185518:A:T p.(Glu607Asp) NC_000007.14:26185518:A:T Identity +NM_001083899.2:c.1599C>G NP_001077368.2:p.Phe533Leu NC_000019.10:55014345:G:C p.(Phe533Leu) NC_000019.10:55014345:G:C p.(Phe533Leu) NC_000019.10:55014345:G:C Identity +NM_001258012.4:c.622C>T NP_001244941.2:p.Pro208Ser NC_000017.11:74866144:G:A p.(Pro208Ser) NC_000017.11:74866144:G:A p.(Pro208Ser) NC_000017.11:74866144:G:A Identity +NM_001329748.1:c.155A>C NP_001316677.1:p.Asp52Ala NC_000016.10:83968802:A:C p.(Asp52Ala) NC_000016.10:83968802:A:C p.(Asp52Ala) NC_000016.10:83968802:A:C Identity +NM_001350324.2:c.223G>A NP_001337253.1:p.Ala75Thr NC_000006.12:45020595:C:T p.(Ala75Thr) NC_000006.12:45020595:C:T p.(Ala75Thr) NC_000006.12:45020595:C:T Identity +NM_018728.4:c.4153C>A NP_061198.2:p.Arg1385Ser NC_000015.10:52211872:G:T p.(Arg1385Ser) NC_000015.10:52211872:G:T p.(Arg1385Ser) NC_000015.10:52211872:G:T Identity +NM_001244682.2:c.1030C>G NP_001231611.1:p.Pro344Ala NC_000011.10:120309541:C:G p.(Pro344Ala) NC_000011.10:120309541:C:G p.(Pro344Ala) NC_000011.10:120309541:C:G Identity +NM_173628.4:c.4193G>A NP_775899.3:p.Arg1398His NC_000017.11:78510426:C:T p.(Arg1398His) NC_000017.11:78510426:C:T p.(Arg1398His) NC_000017.11:78510426:C:T Identity +NM_138573.4:c.68G>T NP_612640.1:p.Cys23Phe NC_000015.10:76009235:C:A p.(Cys23Phe) NC_000015.10:76009235:C:A p.(Cys23Phe) NC_000015.10:76009235:C:A Identity +NM_001261825.2:c.419T>C NP_001248754.1:p.Ile140Thr NC_000012.12:121033522:A:G p.(Ile140Thr) NC_000012.12:121033522:A:G p.(Ile140Thr) NC_000012.12:121033522:A:G Identity +NM_152288.3:c.674C>G NP_689501.1:p.Ala225Gly NC_000016.10:30953629:C:G p.(Ala225Gly) NC_000016.10:30953629:C:G p.(Ala225Gly) NC_000016.10:30953629:C:G Identity +NM_001018057.2:c.848T>A NP_001018067.1:p.Val283Glu NC_000011.10:11964668:A:T p.(Val283Glu) NC_000011.10:11964668:A:T p.(Val283Glu) NC_000011.10:11964668:A:T Identity +NM_001012662.3:c.385G>T NP_001012680.1:p.Ala129Ser NC_000011.10:62881101:G:T p.(Ala129Ser) NC_000011.10:62881101:G:T p.(Ala129Ser) NC_000011.10:62881101:G:T Identity +NM_001270406.2:c.500C>A NP_001257335.1:p.Ala167Asp NC_000022.11:38962181:C:A p.(Ala167Asp) NC_000022.11:38962181:C:A p.(Ala167Asp) NC_000022.11:38962181:C:A Identity +NM_001146254.2:c.1404C>G NP_001139726.1:p.Ile468Met NC_000019.10:13932833:G:C p.(Ile468Met) NC_000019.10:13932833:G:C p.(Ile468Met) NC_000019.10:13932833:G:C Identity +NM_017625.3:c.562C>G NP_060095.2:p.Gln188Glu NC_000001.11:160881155:G:C p.(Gln188Glu) NC_000001.11:160881155:G:C p.(Gln188Glu) NC_000001.11:160881155:G:C Identity +NM_001039457.3:c.46G>T NP_001034546.1:p.Val16Phe NC_000001.11:43976159:G:T p.(Val16Phe) NC_000001.11:43976159:G:T p.(Val16Phe) NC_000001.11:43976159:G:T Identity +NM_001004472.1:c.914T>C NP_001004472.1:p.Leu305Pro NC_000001.11:158480790:T:C p.(Leu305Pro) NC_000001.11:158480790:T:C p.(Leu305Pro) NC_000001.11:158480790:T:C Identity +NM_001161546.2:c.2371G>T NP_001155018.1:p.Val791Leu NC_000005.10:139392710:C:A p.(Val791Leu) NC_000005.10:139392710:C:A p.(Val791Leu) NC_000005.10:139392710:C:A Identity +NM_015001.3:c.1967A>G NP_055816.2:p.Glu656Gly NC_000001.11:15928206:A:G p.(Glu656Gly) NC_000001.11:15928206:A:G p.(Glu656Gly) NC_000001.11:15928206:A:G Identity +NM_001319982.2:c.784C>G NP_001306911.1:p.Arg262Gly NC_000012.12:8222432:G:C p.(Arg262Gly) NC_000012.12:8222432:G:C p.(Arg262Gly) NC_000012.12:8222432:G:C Identity +NM_001009996.3:c.1466T>G NP_001009996.1:p.Leu489Arg NC_000003.12:49015849:A:C p.(Leu489Arg) NC_000003.12:49015849:A:C p.(Leu489Arg) NC_000003.12:49015849:A:C Identity +NM_018557.3:c.10747G>A NP_061027.2:p.Asp3583Asn NC_000002.12:140373028:C:T p.(Asp3583Asn) NC_000002.12:140373028:C:T p.(Asp3583Asn) NC_000002.12:140373028:C:T Identity +NM_052843.4:c.18956C>T NP_443075.3:p.Ser6319Leu NC_000001.11:228359847:C:T p.(Ser6319Leu) NC_000001.11:228359847:C:T p.(Ser6319Leu) NC_000001.11:228359847:C:T Identity +NM_001127181.3:c.199C>T NP_001120653.1:p.Leu67Phe NC_000001.11:173807487:G:A p.(Leu67Phe) NC_000001.11:173807487:G:A p.(Leu67Phe) NC_000001.11:173807487:G:A Identity +NM_001145125.2:c.94C>A NP_001138597.1:p.Pro32Thr NC_000007.14:140479250:G:T p.(Pro32Thr) NC_000007.14:140479250:G:T p.(Pro32Thr) NC_000007.14:140479250:G:T Identity +NM_001161440.3:c.306G>C NP_001154912.2:p.Glu102Asp NC_000019.10:55206734:C:G p.(Glu102Asp) NC_000019.10:55206734:C:G p.(Glu102Asp) NC_000019.10:55206734:C:G Identity +NM_001304472.2:c.2519G>A NP_001291401.1:p.Arg840His NC_000003.12:184387997:G:A p.(Arg840His) NC_000003.12:184387997:G:A p.(Arg840His) NC_000003.12:184387997:G:A Identity +NM_001163673.2:c.1114C>T NP_001157145.1:p.Arg372Trp NC_000017.11:1733759:C:T p.(Arg372Trp) NC_000017.11:1733759:C:T p.(Arg372Trp) NC_000017.11:1733759:C:T Identity +NM_138346.3:c.1604C>T NP_612355.1:p.Thr535Ile NC_000001.11:11922918:G:A p.(Thr535Ile) NC_000001.11:11922918:G:A p.(Thr535Ile) NC_000001.11:11922918:G:A Identity +NM_014824.3:c.2069A>T NP_055639.2:p.His690Leu NC_000011.10:72840946:T:A p.(His690Leu) NC_000011.10:72840946:T:A p.(His690Leu) NC_000011.10:72840946:T:A Identity +NM_018451.5:c.673G>A NP_060921.3:p.Asp225Asn NC_000013.11:24909981:C:T p.(Asp225Asn) NC_000013.11:24909981:C:T p.(Asp225Asn) NC_000013.11:24909981:C:T Identity +NM_000932.5:c.164C>T NP_000923.1:p.Thr55Met NC_000011.10:64254478:C:T p.(Thr55Met) NC_000011.10:64254478:C:T p.(Thr55Met) NC_000011.10:64254478:C:T Identity +NM_005250.3:c.670G>A NP_005241.1:p.Gly224Ser NC_000016.10:86579392:G:A p.(Gly224Ser) NC_000016.10:86579392:G:A p.(Gly224Ser) NC_000016.10:86579392:G:A Identity +NM_001330453.2:c.1282C>G NP_001317382.1:p.Gln428Glu NC_000017.11:74253165:C:G p.(Gln428Glu) NC_000017.11:74253165:C:G p.(Gln428Glu) NC_000017.11:74253165:C:G Identity +NM_001252197.1:c.794G>C NP_001239126.1:p.Gly265Ala NC_000016.10:54933217:G:C p.(Gly265Ala) NC_000016.10:54933217:G:C p.(Gly265Ala) NC_000016.10:54933217:G:C Identity +NM_003492.3:c.520G>A NP_003483.1:p.Ala174Thr NC_000023.11:153982581:G:A p.(Ala174Thr) NC_000023.11:153982581:G:A p.(Ala174Thr) NC_000023.11:153982581:G:A Identity +NM_019010.3:c.497G>A NP_061883.1:p.Arg166His NC_000017.11:40880746:C:T p.(Arg166His) NC_000017.11:40880746:C:T p.(Arg166His) NC_000017.11:40880746:C:T Identity +NM_001025096.2:c.674A>G NP_001020267.1:p.Lys225Arg NC_000018.10:26192331:A:G p.(Lys225Arg) NC_000018.10:26192331:A:G p.(Lys225Arg) NC_000018.10:26192331:A:G Identity +NM_001297703.2:c.359G>A NP_001284632.1:p.Arg120Gln NC_000019.10:17262642:C:T p.(Arg120Gln) NC_000019.10:17262642:C:T p.(Arg120Gln) NC_000019.10:17262642:C:T Identity +NM_002705.5:c.2096G>A NP_002696.4:p.Arg699His NC_000016.10:4890793:C:T p.(Arg699His) NC_000016.10:4890793:C:T p.(Arg699His) NC_000016.10:4890793:C:T Identity +NM_138693.4:c.551G>A NP_619638.2:p.Arg184Gln NC_000007.14:130733482:C:T p.(Arg184Gln) NC_000007.14:130733482:C:T p.(Arg184Gln) NC_000007.14:130733482:C:T Identity +NM_138440.3:c.1625G>A NP_612449.2:p.Arg542Gln NC_000016.10:4382501:G:A p.(Arg542Gln) NC_000016.10:4382501:G:A p.(Arg542Gln) NC_000016.10:4382501:G:A Identity +NM_001135575.2:c.200C>T NP_001129047.1:p.Ser67Phe NC_000006.12:11134525:C:T p.(Ser67Phe) NC_000006.12:11134525:C:T p.(Ser67Phe) NC_000006.12:11134525:C:T Identity +NM_001079870.1:c.29G>T NP_001073339.1:p.Cys10Phe NC_000017.11:41734605:C:A p.(Cys10Phe) NC_000017.11:41734605:C:A p.(Cys10Phe) NC_000017.11:41734605:C:A Identity +NM_001720.5:c.724C>T NP_001711.2:p.Arg242Cys NC_000001.11:39764766:G:A p.(Arg242Cys) NC_000001.11:39764766:G:A p.(Arg242Cys) NC_000001.11:39764766:G:A Identity +NM_024942.4:c.110G>A NP_079218.2:p.Gly37Asp NC_000010.11:122954068:C:T p.(Gly37Asp) NC_000010.11:122954068:C:T p.(Gly37Asp) NC_000010.11:122954068:C:T Identity +NM_001093.4:c.1942G>A NP_001084.3:p.Val648Ile NC_000012.12:109185701:G:A p.(Val648Ile) NC_000012.12:109185701:G:A p.(Val648Ile) NC_000012.12:109185701:G:A Identity +NM_000382.3:c.947C>T NP_000373.1:p.Thr316Ile NC_000017.11:19663338:C:T p.(Thr316Ile) NC_000017.11:19663338:C:T p.(Thr316Ile) NC_000017.11:19663338:C:T Identity +NM_018903.4:c.1544G>T NP_061726.1:p.Gly515Val NC_000005.10:140877015:G:T p.(Gly515Val) NC_000005.10:140877015:G:T p.(Gly515Val) NC_000005.10:140877015:G:T Identity +NM_001975.3:c.275A>G NP_001966.1:p.Asn92Ser NC_000012.12:6917071:A:G p.(Asn92Ser) NC_000012.12:6917071:A:G p.(Asn92Ser) NC_000012.12:6917071:A:G Identity +NM_001306080.2:c.2893A>G NP_001293009.1:p.Met965Val NC_000013.11:75823816:A:G p.(Met965Val) NC_000013.11:75823816:A:G p.(Met965Val) NC_000013.11:75823816:A:G Identity +NM_001329515.3:c.1697A>G NP_001316444.1:p.Lys566Arg NC_000019.10:37128687:A:G p.(Lys566Arg) NC_000019.10:37128687:A:G p.(Lys566Arg) NC_000019.10:37128687:A:G Identity +NM_001367089.1:c.3926T>C NP_001354018.1:p.Leu1309Pro NC_000020.11:3692624:A:G p.(Leu1309Pro) NC_000020.11:3692624:A:G p.(Leu1309Pro) NC_000020.11:3692624:A:G Identity +NM_024109.4:c.463G>A NP_077014.4:p.Asp155Asn NC_000016.10:8629058:G:A p.(Asp155Asn) NC_000016.10:8629058:G:A p.(Asp155Asn) NC_000016.10:8629058:G:A Identity +NM_001178002.3:c.3640A>G NP_001171473.1:p.Ser1214Gly NC_000019.10:1783179:T:C p.(Ser1214Gly) NC_000019.10:1783179:T:C p.(Ser1214Gly) NC_000019.10:1783179:T:C Identity +NM_001004701.2:c.247G>A NP_001004701.2:p.Ala83Thr NC_000011.10:55572373:G:A p.(Ala83Thr) NC_000011.10:55572373:G:A p.(Ala83Thr) NC_000011.10:55572373:G:A Identity +NM_004943.2:c.1247C>T NP_004934.1:p.Ala416Val NC_000019.10:45786248:G:A p.(Ala416Val) NC_000019.10:45786248:G:A p.(Ala416Val) NC_000019.10:45786248:G:A Identity +NM_002192.4:c.1184A>G NP_002183.1:p.Lys395Arg NC_000007.14:41689746:T:C p.(Lys395Arg) NC_000007.14:41689746:T:C p.(Lys395Arg) NC_000007.14:41689746:T:C Identity +NM_020404.3:c.1348C>T NP_065137.1:p.Pro450Ser NC_000011.10:66315679:G:A p.(Pro450Ser) NC_000011.10:66315679:G:A p.(Pro450Ser) NC_000011.10:66315679:G:A Identity +NM_001267556.2:c.401G>A NP_001254485.1:p.Arg134Gln NC_000005.10:311331:G:A p.(Arg134Gln) NC_000005.10:311331:G:A p.(Arg134Gln) NC_000005.10:311331:G:A Identity +NM_001128160.2:c.808A>G NP_001121632.1:p.Ile270Val NC_000003.12:33409246:T:C p.(Ile270Val) NC_000003.12:33409246:T:C p.(Ile270Val) NC_000003.12:33409246:T:C Identity +NM_006071.2:c.3634C>G NP_006062.1:p.Gln1212Glu NC_000022.11:46259688:G:C p.(Gln1212Glu) NC_000022.11:46259688:G:C p.(Gln1212Glu) NC_000022.11:46259688:G:C Identity +NM_001256370.2:c.703C>T NP_001243299.1:p.Arg235Cys NC_000021.9:14510371:G:A p.(Arg235Cys) NC_000021.9:14510371:G:A p.(Arg235Cys) NC_000021.9:14510371:G:A Identity +NM_001161661.2:c.2410C>T NP_001155133.1:p.Pro804Ser NC_000005.10:168441810:C:T p.(Pro804Ser) NC_000005.10:168441810:C:T p.(Pro804Ser) NC_000005.10:168441810:C:T Identity +NM_194284.3:c.484C>G NP_919260.2:p.Leu162Val NC_000008.11:8702881:C:G p.(Leu162Val) NC_000008.11:8702881:C:G p.(Leu162Val) NC_000008.11:8702881:C:G Identity +NM_001320531.2:c.2009G>A NP_001307460.1:p.Arg670His NC_000003.12:112204236:C:T p.(Arg670His) NC_000003.12:112204236:C:T p.(Arg670His) NC_000003.12:112204236:C:T Identity +NM_001284406.2:c.106A>G NP_001271335.1:p.Thr36Ala NC_000003.12:12749774:T:C p.(Thr36Ala) NC_000003.12:12749774:T:C p.(Thr36Ala) NC_000003.12:12749774:T:C Identity +NM_000338.3:c.325G>A NP_000329.2:p.Val109Ile NC_000015.10:48208043:G:A p.(Val109Ile) NC_000015.10:48208043:G:A p.(Val109Ile) NC_000015.10:48208043:G:A Identity +NM_001013622.3:c.460G>A NP_001013644.1:p.Asp154Asn NC_000004.12:1655399:C:T p.(Asp154Asn) NC_000004.12:1655399:C:T p.(Asp154Asn) NC_000004.12:1655399:C:T Identity +NM_001318934.2:c.2774G>A NP_001305863.1:p.Arg925Gln NC_000003.12:149039067:C:T p.(Arg925Gln) NC_000003.12:149039067:C:T p.(Arg925Gln) NC_000003.12:149039067:C:T Identity +NM_001039141.3:c.5879G>A NP_001034230.1:p.Arg1960His NC_000022.11:37757803:G:A p.(Arg1960His) NC_000022.11:37757803:G:A p.(Arg1960His) NC_000022.11:37757803:G:A Identity +NM_030934.5:c.47A>T NP_112196.3:p.Glu16Val NC_000001.11:185156665:T:A p.(Glu16Val) NC_000001.11:185156665:T:A p.(Glu16Val) NC_000001.11:185156665:T:A Identity +NM_173489.5:c.3237C>G NP_775760.3:p.Ser1079Arg NC_000005.10:41009977:G:C p.(Ser1079Arg) NC_000005.10:41009977:G:C p.(Ser1079Arg) NC_000005.10:41009977:G:C Identity +NM_173595.4:c.1714A>G NP_775866.2:p.Met572Val NC_000012.12:56248556:T:C p.(Met572Val) NC_000012.12:56248556:T:C p.(Met572Val) NC_000012.12:56248556:T:C Identity +NM_004851.3:c.80T>C NP_004842.1:p.Ile27Thr NC_000019.10:50365541:A:G p.(Ile27Thr) NC_000019.10:50365541:A:G p.(Ile27Thr) NC_000019.10:50365541:A:G Identity +NM_021826.5:c.2126A>G NP_068598.1:p.Tyr709Cys NC_000020.11:3146944:T:C p.(Tyr709Cys) NC_000020.11:3146944:T:C p.(Tyr709Cys) NC_000020.11:3146944:T:C Identity +NM_001323553.2:c.1010A>G NP_001310482.1:p.Asn337Ser NC_000008.11:131970601:A:G p.(Asn337Ser) NC_000008.11:131970601:A:G p.(Asn337Ser) NC_000008.11:131970601:A:G Identity +NM_001256486.2:c.5755A>G NP_001243415.1:p.Thr1919Ala NC_000003.12:121694767:T:C p.(Thr1919Ala) NC_000003.12:121694767:T:C p.(Thr1919Ala) NC_000003.12:121694767:T:C Identity +NM_006602.4:c.1466G>A NP_006593.2:p.Gly489Glu NC_000020.11:62842011:C:T p.(Gly489Glu) NC_000020.11:62842011:C:T p.(Gly489Glu) NC_000020.11:62842011:C:T Identity +NM_001193282.4:c.1375C>T NP_001180211.2:p.Arg459Cys NC_000004.12:2459177:C:T p.(Arg459Cys) NC_000004.12:2459177:C:T p.(Arg459Cys) NC_000004.12:2459177:C:T Identity +NM_003700.1:c.200C>A NP_003691.1:p.Ser67Tyr NC_000011.10:6892300:G:T p.(Ser67Tyr) NC_000011.10:6892300:G:T p.(Ser67Tyr) NC_000011.10:6892300:G:T Identity +NM_182539.4:c.1181C>T NP_872345.2:p.Thr394Met NC_000006.12:44282224:G:A p.(Thr394Met) NC_000006.12:44282224:G:A p.(Thr394Met) NC_000006.12:44282224:G:A Identity +NM_212559.3:c.1094T>C NP_997724.2:p.Leu365Ser NC_000023.11:100914593:A:G p.(Leu365Ser) NC_000023.11:100914593:A:G p.(Leu365Ser) NC_000023.11:100914593:A:G Identity +NM_001025096.2:c.19A>T NP_001020267.1:p.Arg7Trp NC_000018.10:26133983:A:T p.(Arg7Trp) NC_000018.10:26133983:A:T p.(Arg7Trp) NC_000018.10:26133983:A:T Identity +NM_001256613.2:c.610G>A NP_001243542.1:p.Ala204Thr NC_000003.12:184105316:G:A p.(Ala204Thr) NC_000003.12:184105316:G:A p.(Ala204Thr) NC_000003.12:184105316:G:A Identity +NM_001324086.2:c.65A>G NP_001311015.1:p.Asn22Ser NC_000016.10:787672:T:C p.(Asn22Ser) NC_000016.10:787672:T:C p.(Asn22Ser) NC_000016.10:787672:T:C Identity +NM_001319654.1:c.1142G>A NP_001306583.1:p.Arg381Gln NC_000010.11:43164026:G:A p.(Arg381Gln) NC_000010.11:43164026:G:A p.(Arg381Gln) NC_000010.11:43164026:G:A Identity +NM_001167882.2:c.3563A>G NP_001161354.1:p.Tyr1188Cys NC_000004.12:124669176:T:C p.(Tyr1188Cys) NC_000004.12:124669176:T:C p.(Tyr1188Cys) NC_000004.12:124669176:T:C Identity +NM_003171.5:c.217G>A NP_003162.2:p.Gly73Ser NC_000010.11:69180507:G:A p.(Gly73Ser) NC_000010.11:69180507:G:A p.(Gly73Ser) NC_000010.11:69180507:G:A Identity +NM_001134.3:c.1816G>T NP_001125.1:p.Ala606Ser NC_000004.12:73455265:G:T p.(Ala606Ser) NC_000004.12:73455265:G:T p.(Ala606Ser) NC_000004.12:73455265:G:T Identity +NM_001009814.2:c.3105G>C NP_001009814.1:p.Gln1035His NC_000013.11:41719601:C:G p.(Gln1035His) NC_000013.11:41719601:C:G p.(Gln1035His) NC_000013.11:41719601:C:G Identity +NM_144994.8:c.185T>G NP_659431.5:p.Phe62Cys NC_000002.12:96842174:A:C p.(Phe62Cys) NC_000002.12:96842174:A:C p.(Phe62Cys) NC_000002.12:96842174:A:C Identity +NM_207310.4:c.389C>A NP_997193.1:p.Pro130His NC_000002.12:130142287:G:T p.(Pro130His) NC_000002.12:130142287:G:T p.(Pro130His) NC_000002.12:130142287:G:T Identity +NM_001291501.2:c.317G>A NP_001278430.1:p.Arg106His NC_000022.11:45406846:C:T p.(Arg106His) NC_000022.11:45406846:C:T p.(Arg106His) NC_000022.11:45406846:C:T Identity +NM_001177675.2:c.358G>A NP_001171146.1:p.Glu120Lys NC_000022.11:43889330:C:T p.(Glu120Lys) NC_000022.11:43889330:C:T p.(Glu120Lys) NC_000022.11:43889330:C:T Identity +NM_001256404.2:c.303A>C NP_001243333.1:p.Glu101Asp NC_000001.11:114625681:T:G p.(Glu101Asp) NC_000001.11:114625681:T:G p.(Glu101Asp) NC_000001.11:114625681:T:G Identity +NM_001172557.2:c.967G>A NP_001166028.1:p.Ala323Thr NC_000012.12:132808101:C:T p.(Ala323Thr) NC_000012.12:132808101:C:T p.(Ala323Thr) NC_000012.12:132808101:C:T Identity +NM_001144063.2:c.1834C>T NP_001137535.1:p.Arg612Trp NC_000011.10:3092960:G:A p.(Arg612Trp) NC_000011.10:3092960:G:A p.(Arg612Trp) NC_000011.10:3092960:G:A Identity +NM_001135095.2:c.2731A>T NP_001128567.1:p.Ser911Cys NC_000003.12:172353018:A:T p.(Ser911Cys) NC_000003.12:172353018:A:T p.(Ser911Cys) NC_000003.12:172353018:A:T Identity +NM_001042583.3:c.590T>C NP_001036048.1:p.Leu197Pro NC_000001.11:158355533:T:C p.(Leu197Pro) NC_000001.11:158355533:T:C p.(Leu197Pro) NC_000001.11:158355533:T:C Identity +NM_001145134.2:c.1846G>A NP_001138606.1:p.Gly616Arg NC_000022.11:50570970:C:T p.(Gly616Arg) NC_000022.11:50570970:C:T p.(Gly616Arg) NC_000022.11:50570970:C:T Identity +NM_177417.3:c.158C>T NP_803136.2:p.Ala53Val NC_000019.10:45345698:C:T p.(Ala53Val) NC_000019.10:45345698:C:T p.(Ala53Val) NC_000019.10:45345698:C:T Identity +NM_001093771.3:c.269G>T NP_001087240.1:p.Cys90Phe NC_000012.12:104258043:G:T p.(Cys90Phe) NC_000012.12:104258043:G:T p.? NC_000012.12:104258043:G:T Identity +NM_001410891.1:c.979G>A NP_001397820.1:p.Asp327Asn NC_000001.11:166922767:C:T p.(Asp327Asn) NC_000001.11:166922767:C:T p.(Asp327Asn) NC_000001.11:166922767:C:T Identity +NM_001281956.2:c.7486G>A NP_001268885.1:p.Gly2496Ser NC_000001.11:33577385:C:T p.(Gly2496Ser) NC_000001.11:33577385:C:T p.(Gly2496Ser) NC_000001.11:33577385:C:T Identity +NM_013262.4:c.1271G>T NP_037394.2:p.Arg424Leu NC_000006.12:16146683:G:T p.(Arg424Leu) NC_000006.12:16146683:G:T p.(Arg424Leu) NC_000006.12:16146683:G:T Identity +NM_001009813.3:c.638G>A NP_001009813.1:p.Gly213Glu NC_000019.10:47409455:C:T p.(Gly213Glu) NC_000019.10:47409455:C:T p.(Gly213Glu) NC_000019.10:47409455:C:T Identity +NM_001256074.3:c.1078C>T NP_001243003.1:p.Arg360Trp NC_000004.12:108863380:G:A p.(Arg360Trp) NC_000004.12:108863380:G:A p.(Arg360Trp) NC_000004.12:108863380:G:A Identity +NM_016642.4:c.436C>G NP_057726.4:p.Leu146Val NC_000015.10:41890153:G:C p.(Leu146Val) NC_000015.10:41890153:G:C p.(Leu146Val) NC_000015.10:41890153:G:C Identity +NM_001057.3:c.250G>T NP_001048.2:p.Ala84Ser NC_000010.11:69416073:C:A p.(Ala84Ser) NC_000010.11:69416073:C:A p.(Ala84Ser) NC_000010.11:69416073:C:A Identity +NM_001143687.2:c.1243G>A NP_001137159.1:p.Val415Ile NC_000001.11:155046169:G:A p.(Val415Ile) NC_000001.11:155046169:G:A p.(Val415Ile) NC_000001.11:155046169:G:A Identity +NM_001351957.2:c.1489G>A NP_001338886.1:p.Gly497Ser NC_000011.10:119134363:G:A p.(Gly497Ser) NC_000011.10:119134363:G:A p.(Gly497Ser) NC_000011.10:119134363:G:A Identity +NM_000914.5:c.27C>A NP_000905.3:p.Asn9Lys NC_000006.12:154039570:C:A p.(Asn9Lys) NC_000006.12:154039570:C:A p.(Asn9Lys) NC_000006.12:154039570:C:A Identity +NM_014931.4:c.965C>T NP_055746.3:p.Pro322Leu NC_000019.10:55241519:G:A p.(Pro322Leu) NC_000019.10:55241519:G:A p.(Pro322Leu) NC_000019.10:55241519:G:A Identity +NM_001316902.2:c.290C>A NP_001303831.1:p.Ala97Glu NC_000019.10:35716228:C:A p.(Ala97Glu) NC_000019.10:35716228:C:A p.(Ala97Glu) NC_000019.10:35716228:C:A Identity +NM_001319224.2:c.632C>T NP_001306153.1:p.Thr211Met NC_000001.11:241858593:C:T p.(Thr211Met) NC_000001.11:241858593:C:T p.(Thr211Met) NC_000001.11:241858593:C:T Identity +NM_182588.3:c.4656T>G NP_872394.2:p.Ser1552Arg NC_000002.12:107872659:T:G p.(Ser1552Arg) NC_000002.12:107872659:T:G p.(Ser1552Arg) NC_000002.12:107872659:T:G Identity +NM_001628.4:c.86C>T NP_001619.1:p.Thr29Ile NC_000007.14:134451733:G:A p.(Thr29Ile) NC_000007.14:134451733:G:A p.(Thr29Ile) NC_000007.14:134451733:G:A Identity +NM_005425.5:c.379A>G NP_005416.1:p.Lys127Glu NC_000016.10:11268883:T:C p.(Lys127Glu) NC_000016.10:11268883:T:C p.(Lys127Glu) NC_000016.10:11268883:T:C Identity +NM_001146197.3:c.11492G>A NP_001139669.1:p.Arg3831Gln NC_000013.11:102739204:C:T p.(Arg3831Gln) NC_000013.11:102739204:C:T p.(Arg3831Gln) NC_000013.11:102739204:C:T Identity +NM_001411148.1:c.3345C>G NP_001398077.1:p.Phe1115Leu NC_000019.10:5151462:C:G p.(Phe1115Leu) NC_000019.10:5151462:C:G p.(Phe1115Leu) NC_000019.10:5151462:C:G Identity +NM_001283014.2:c.352A>C NP_001269943.1:p.Ile118Leu NC_000010.11:73122302:A:C p.(Ile118Leu) NC_000010.11:73122302:A:C p.(Ile118Leu) NC_000010.11:73122302:A:C Identity +NM_001306089.2:c.1358C>T NP_001293018.1:p.Pro453Leu NC_000018.10:76881452:C:T p.(Pro453Leu) NC_000018.10:76881452:C:T p.(Pro453Leu) NC_000018.10:76881452:C:T Identity +NM_015113.4:c.7448C>A NP_055928.3:p.Ala2483Asp NC_000017.11:4019725:G:T p.(Ala2483Asp) NC_000017.11:4019725:G:T p.(Ala2483Asp) NC_000017.11:4019725:G:T Identity +NM_001162997.2:c.26C>T NP_001156469.1:p.Thr9Ile NC_000017.11:75647401:C:T p.(Thr9Ile) NC_000017.11:75647401:C:T p.(Thr9Ile) NC_000017.11:75647401:C:T Identity +NM_001378183.1:c.5716G>A NP_001365112.1:p.Glu1906Lys NC_000018.10:10705618:C:T p.(Glu1906Lys) NC_000018.10:10705618:C:T p.(Glu1906Lys) NC_000018.10:10705618:C:T Identity +NM_001289987.3:c.3638G>T NP_001276916.1:p.Gly1213Val NC_000006.12:75308703:C:A p.(Gly1213Val) NC_000006.12:75308703:C:A p.(Gly1213Val) NC_000006.12:75308703:C:A Identity +NM_001256024.2:c.208A>G NP_001242953.1:p.Lys70Glu NC_000010.11:48582978:T:C p.(Lys70Glu) NC_000010.11:48582978:T:C p.(Lys70Glu) NC_000010.11:48582978:T:C Identity +NM_012083.3:c.355G>A NP_036215.1:p.Gly119Ser NC_000010.11:97334217:C:T p.(Gly119Ser) NC_000010.11:97334217:C:T p.(Gly119Ser) NC_000010.11:97334217:C:T Identity +NM_016642.4:c.6332G>A NP_057726.4:p.Arg2111Gln NC_000015.10:41867106:C:T p.(Arg2111Gln) NC_000015.10:41867106:C:T p.(Arg2111Gln) NC_000015.10:41867106:C:T Identity +NM_001301110.2:c.4708G>T NP_001288039.1:p.Ala1570Ser NC_000015.10:84031385:G:T p.(Ala1570Ser) NC_000015.10:84031385:G:T p.(Ala1570Ser) NC_000015.10:84031385:G:T Identity +NM_001127.4:c.1336G>A NP_001118.3:p.Ala446Thr NC_000022.11:29349318:C:T p.(Ala446Thr) NC_000022.11:29349318:C:T p.(Ala446Thr) NC_000022.11:29349318:C:T Identity +NM_020820.4:c.2620G>A NP_065871.3:p.Val874Met NC_000020.11:48651430:C:T p.(Val874Met) NC_000020.11:48651430:C:T p.(Val874Met) NC_000020.11:48651430:C:T Identity +NM_005876.5:c.5519G>A NP_005867.3:p.Arg1840Gln NC_000002.12:219481452:G:A p.(Arg1840Gln) NC_000002.12:219481452:G:A p.(Arg1840Gln) NC_000002.12:219481452:G:A Identity +NM_153366.4:c.9947C>T NP_699197.3:p.Thr3316Met NC_000009.12:110387397:G:A p.(Thr3316Met) NC_000009.12:110387397:G:A p.(Thr3316Met) NC_000009.12:110387397:G:A Identity +NM_183375.5:c.473A>G NP_899231.4:p.Glu158Gly NC_000004.12:151282404:A:G p.(Glu158Gly) NC_000004.12:151282404:A:G p.(Glu158Gly) NC_000004.12:151282404:A:G Identity +NM_001330364.2:c.1372A>G NP_001317293.1:p.Met458Val NC_000002.12:88110449:A:G p.(Met458Val) NC_000002.12:88110449:A:G p.(Met458Val) NC_000002.12:88110449:A:G Identity +NM_001164586.2:c.7708G>C NP_001158058.1:p.Gly2570Arg NC_000001.11:201212600:G:C p.(Gly2570Arg) NC_000001.11:201212600:G:C p.(Gly2570Arg) NC_000001.11:201212600:G:C Identity +NM_001276343.3:c.1757C>T NP_001263272.2:p.Ser586Phe NC_000010.11:45826218:G:A p.(Ser586Phe) NC_000010.11:45826218:G:A p.(Ser586Phe) NC_000010.11:45826218:G:A Identity +NM_001175.7:c.353A>G NP_001166.3:p.Asp118Gly NC_000012.12:14944828:T:C p.(Asp118Gly) NC_000012.12:14944828:T:C p.(Asp118Gly) NC_000012.12:14944828:T:C Identity +NM_024337.4:c.764C>T NP_077313.3:p.Pro255Leu NC_000005.10:3599711:C:T p.(Pro255Leu) NC_000005.10:3599711:C:T p.(Pro255Leu) NC_000005.10:3599711:C:T Identity +NM_018230.3:c.1975C>T NP_060700.2:p.Arg659Trp NC_000001.11:229470680:G:A p.(Arg659Trp) NC_000001.11:229470680:G:A p.(Arg659Trp) NC_000001.11:229470680:G:A Identity +NM_001018044.3:c.932A>T NP_001018054.1:p.Lys311Ile NC_000002.12:134987600:T:A p.(Lys311Ile) NC_000002.12:134987600:T:A p.(Lys311Ile) NC_000002.12:134987600:T:A Identity +NM_001370464.1:c.512T>G NP_001357393.1:p.Val171Gly NC_000011.10:18137713:T:G p.(Val171Gly) NC_000011.10:18137713:T:G p.(Val171Gly) NC_000011.10:18137713:T:G Identity +NM_020798.4:c.2474A>G NP_065849.1:p.Asp825Gly NC_000011.10:78210328:A:G p.(Asp825Gly) NC_000011.10:78210328:A:G p.(Asp825Gly) NC_000011.10:78210328:A:G Identity +NM_001258333.2:c.749T>C NP_001245262.1:p.Ile250Thr NC_000012.12:95980701:A:G p.(Ile250Thr) NC_000012.12:95980701:A:G p.(Ile250Thr) NC_000012.12:95980701:A:G Identity +NM_018951.4:c.413A>C NP_061824.3:p.Gln138Pro NC_000007.14:27173893:T:G p.(Gln138Pro) NC_000007.14:27173893:T:G p.(Gln138Pro) NC_000007.14:27173893:T:G Identity +NM_052905.4:c.1811C>T NP_443137.2:p.Thr604Ile NC_000002.12:152619691:C:T p.(Thr604Ile) NC_000002.12:152619691:C:T p.(Thr604Ile) NC_000002.12:152619691:C:T Identity +NM_001607.4:c.457A>T NP_001598.1:p.Met153Leu NC_000003.12:38129377:T:A p.(Met153Leu) NC_000003.12:38129377:T:A p.(Met153Leu) NC_000003.12:38129377:T:A Identity +NM_001142473.2:c.673G>A NP_001135945.1:p.Gly225Ser NC_000001.11:206909496:C:T p.(Gly225Ser) NC_000001.11:206909496:C:T p.(Gly225Ser) NC_000001.11:206909496:C:T Identity +NM_001366244.2:c.1430C>T NP_001353173.2:p.Pro477Leu NC_000009.12:128260792:G:A p.(Pro477Leu) NC_000009.12:128260792:G:A p.(Pro477Leu) NC_000009.12:128260792:G:A Identity +NM_001105565.3:c.1084G>A NP_001099035.2:p.Gly362Ser NC_000011.10:57546242:G:A p.(Gly362Ser) NC_000011.10:57546242:G:A p.(Gly362Ser) NC_000011.10:57546242:G:A Identity +NM_001348010.4:c.119G>C NP_001334939.2:p.Arg40Pro NC_000009.12:97309462:G:C p.(Arg40Pro) NC_000009.12:97309462:G:C p.(Arg40Pro) NC_000009.12:97309462:G:C Identity +NM_017677.4:c.1340G>A NP_060147.2:p.Arg447Gln NC_000023.11:64331568:C:T p.(Arg447Gln) NC_000023.11:64331568:C:T p.(Arg447Gln) NC_000023.11:64331568:C:T Identity +NM_001166271.3:c.2138G>A NP_001159743.1:p.Arg713His NC_000013.11:24251835:G:A p.(Arg713His) NC_000013.11:24251835:G:A p.(Arg713His) NC_000013.11:24251835:G:A Identity +NM_152616.5:c.532G>A NP_689829.3:p.Glu178Lys NC_000003.12:140682651:G:A p.(Glu178Lys) NC_000003.12:140682651:G:A p.(Glu178Lys) NC_000003.12:140682651:G:A Identity +NM_001164829.2:c.229C>T NP_001158301.1:p.Arg77Cys NC_000001.11:43282897:G:A p.(Arg77Cys) NC_000001.11:43282897:G:A p.(Arg77Cys) NC_000001.11:43282897:G:A Identity +NM_001032394.3:c.1640T>C NP_001027566.2:p.Val547Ala NC_000006.12:142402037:T:C p.(Val547Ala) NC_000006.12:142402037:T:C p.(Val547Ala) NC_000006.12:142402037:T:C Identity +NM_001040697.4:c.938G>A NP_001035787.1:p.Arg313Gln NC_000011.10:18544744:C:T p.(Arg313Gln) NC_000011.10:18544744:C:T p.(Arg313Gln) NC_000011.10:18544744:C:T Identity +NM_033404.1:c.3823G>A NP_208383.1:p.Gly1275Arg NC_000010.11:133211530:G:A ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.1 not found +NM_001080467.3:c.1788G>C NP_001073936.1:p.Lys596Asn NC_000018.10:49937361:C:G p.(Lys596Asn) NC_000018.10:49937361:C:G p.(Lys596Asn) NC_000018.10:49937361:C:G Identity +NM_001242921.1:c.41G>A NP_001229850.1:p.Arg14Gln NC_000020.11:45909965:C:T p.(Arg14Gln) NC_000020.11:45909965:C:T p.(Arg14Gln) NC_000020.11:45909965:C:T Identity +NM_001195483.2:c.136T>A NP_001182412.2:p.Phe46Ile NC_000003.12:125190436:A:T p.(Phe46Ile) NC_000003.12:125190436:A:T p.(Phe46Ile) NC_000003.12:125190436:A:T Identity +NM_001320594.2:c.1469C>T NP_001307523.1:p.Thr490Ile NC_000010.11:110130456:C:T p.(Thr490Ile) NC_000010.11:110130456:C:T p.(Thr490Ile) NC_000010.11:110130456:C:T Identity +NM_001286658.2:c.341C>T NP_001273587.1:p.Pro114Leu NC_000013.11:75481426:G:A p.(Pro114Leu) NC_000013.11:75481426:G:A p.(Pro114Leu) NC_000013.11:75481426:G:A Identity +NM_001080744.2:c.422C>T NP_001074213.1:p.Ala141Val NC_000003.12:186288831:G:A p.(Ala141Val) NC_000003.12:186288831:G:A p.(Ala141Val) NC_000003.12:186288831:G:A Identity +NM_002675.4:c.632T>A NP_002666.1:p.Leu211Gln NC_000015.10:74022856:T:A p.(Leu211Gln) NC_000015.10:74022856:T:A p.(Leu211Gln) NC_000015.10:74022856:T:A Identity +NM_001387844.1:c.2849A>G NP_001374773.1:p.Lys950Arg NC_000001.11:171540314:A:G p.(Lys950Arg) NC_000001.11:171540314:A:G p.(Lys950Arg) NC_000001.11:171540314:A:G Identity +NM_001184767.2:c.1258C>T NP_001171696.1:p.Arg420Cys NC_000023.11:18177667:G:A p.(Arg420Cys) NC_000023.11:18177667:G:A p.(Arg420Cys) NC_000023.11:18177667:G:A Identity +NM_001136103.3:c.556C>T NP_001129575.2:p.Arg186Trp NC_000012.12:128415201:C:T p.(Arg186Trp) NC_000012.12:128415201:C:T p.(Arg186Trp) NC_000012.12:128415201:C:T Identity +NM_001101320.1:c.5C>T NP_001094790.1:p.Pro2Leu NC_000013.11:51341095:C:T p.(Pro2Leu) NC_000013.11:51341095:C:T p.(Pro2Leu) NC_000013.11:51341095:C:T Identity +NM_001304458.2:c.14A>C NP_001291387.1:p.Asp5Ala NC_000004.12:147673859:T:G p.(Asp5Ala) NC_000004.12:147673859:T:G p.(Asp5Ala) NC_000004.12:147673859:T:G Identity +NM_001378292.1:c.1119G>C NP_001365221.1:p.Arg373Ser NC_000019.10:35800145:C:G p.(Arg373Ser) NC_000019.10:35800145:C:G p.(Arg373Ser) NC_000019.10:35800145:C:G Identity +NM_001282531.3:c.917G>A NP_001269460.1:p.Arg306Gln NC_000020.11:50893796:C:T p.(Arg306Gln) NC_000020.11:50893796:C:T p.(Arg306Gln) NC_000020.11:50893796:C:T Identity +NM_021957.4:c.1735C>T NP_068776.2:p.Arg579Cys NC_000012.12:21540483:G:A p.(Arg579Cys) NC_000012.12:21540483:G:A p.(Arg579Cys) NC_000012.12:21540483:G:A Identity +NM_001040105.2:c.5276C>T NP_001035194.1:p.Thr1759Met NC_000007.14:101036691:C:T p.(Thr1759Met) NC_000007.14:101036691:C:T p.(Thr1759Met) NC_000007.14:101036691:C:T Identity +NM_001037232.4:c.839G>A NP_001032309.2:p.Ser280Asn NC_000019.10:36891951:C:T p.(Ser280Asn) NC_000019.10:36891951:C:T p.(Ser280Asn) NC_000019.10:36891951:C:T Identity +NM_003875.3:c.208C>T NP_003866.1:p.Arg70Cys NC_000003.12:155893697:C:T p.(Arg70Cys) NC_000003.12:155893697:C:T p.(Arg70Cys) NC_000003.12:155893697:C:T Identity +NM_001411094.1:c.533G>A NP_001398023.1:p.Ser178Asn NC_000017.11:36953134:G:A p.(Ser178Asn) NC_000017.11:36953134:G:A p.(Ser178Asn) NC_000017.11:36953134:G:A Identity +NM_001001438.3:c.1060G>A NP_001001438.1:p.Ala354Thr NC_000021.9:46213786:C:T p.(Ala354Thr) NC_000021.9:46213786:C:T p.(Ala354Thr) NC_000021.9:46213786:C:T Identity +NM_003747.3:c.1895A>G NP_003738.2:p.Asn632Ser NC_000008.11:9720518:A:G p.(Asn632Ser) NC_000008.11:9720518:A:G p.(Asn632Ser) NC_000008.11:9720518:A:G Identity +NM_015136.3:c.5976T>A NP_055951.2:p.Ser1992Arg NC_000003.12:52521427:T:A p.(Ser1992Arg) NC_000003.12:52521427:T:A p.(Ser1992Arg) NC_000003.12:52521427:T:A Identity +NM_001202521.1:c.514C>T NP_001189450.1:p.Arg172Trp NC_000006.12:30891068:C:T p.(Arg172Trp) NC_000006.12:30891068:C:T p.(Arg172Trp) NC_000006.12:30891068:C:T Identity +NM_138440.3:c.538A>C NP_612449.2:p.Ser180Arg NC_000016.10:4381414:A:C p.(Ser180Arg) NC_000016.10:4381414:A:C p.(Ser180Arg) NC_000016.10:4381414:A:C Identity +NM_001143819.3:c.1876C>T NP_001137291.1:p.Arg626Cys NC_000012.12:113288187:C:T p.(Arg626Cys) NC_000012.12:113288187:C:T p.(Arg626Cys) NC_000012.12:113288187:C:T Identity +NM_015144.3:c.2312G>A NP_055959.2:p.Arg771His NC_000016.10:87412408:C:T p.(Arg771His) NC_000016.10:87412408:C:T p.(Arg771His) NC_000016.10:87412408:C:T Identity +NM_001363541.2:c.1571T>C NP_001350470.2:p.Leu524Pro NC_000005.10:177458400:A:G p.(Leu524Pro) NC_000005.10:177458400:A:G p.(Leu524Pro) NC_000005.10:177458400:A:G Identity +NM_139021.3:c.115G>A NP_620590.2:p.Val39Met NC_000008.11:143717741:G:A p.(Val39Met) NC_000008.11:143717741:G:A p.(Val39Met) NC_000008.11:143717741:G:A Identity +NM_001024457.4:c.3848C>T NP_001019628.3:p.Ala1283Val NC_000002.12:86986770:C:T p.(Ala1283Val) NC_000002.12:86986770:C:T p.(Ala1283Val) NC_000002.12:86986770:C:T Identity +NM_144682.6:c.404A>G NP_653283.3:p.Tyr135Cys NC_000017.11:35445276:T:C p.(Tyr135Cys) NC_000017.11:35445276:T:C p.(Tyr135Cys) NC_000017.11:35445276:T:C Identity +NM_001025598.2:c.2207A>C NP_001020769.1:p.Glu736Ala NC_000001.11:161048813:T:G p.(Glu736Ala) NC_000001.11:161048813:T:G p.(Glu736Ala) NC_000001.11:161048813:T:G Identity +NM_173605.2:c.113G>A NP_775876.1:p.Arg38Lys NC_000013.11:50015605:G:A p.(Arg38Lys) NC_000013.11:50015605:G:A p.(Arg38Lys) NC_000013.11:50015605:G:A Identity +NM_004267.5:c.400G>C NP_004258.2:p.Gly134Arg NC_000003.12:143121215:G:C p.(Gly134Arg) NC_000003.12:143121215:G:C p.(Gly134Arg) NC_000003.12:143121215:G:C Identity +NM_015694.3:c.1730C>T NP_056509.2:p.Ala577Val NC_000007.14:149432541:G:A p.(Ala577Val) NC_000007.14:149432541:G:A p.(Ala577Val) NC_000007.14:149432541:G:A Identity +NM_053004.3:c.148C>T NP_443730.1:p.His50Tyr NC_000022.11:19820703:G:A p.(His50Tyr) NC_000022.11:19820703:G:A p.(His50Tyr) NC_000022.11:19820703:G:A Identity +NM_001303484.2:c.762A>C NP_001290413.1:p.Lys254Asn NC_000022.11:17589620:A:C p.(Lys254Asn) NC_000022.11:17589620:A:C p.(Lys254Asn) NC_000022.11:17589620:A:C Identity +NM_001130860.6:c.767A>G NP_001124332.2:p.Asp256Gly NC_000023.11:66188499:A:G p.(Asp256Gly) NC_000023.11:66188499:A:G p.(Asp256Gly) NC_000023.11:66188499:A:G Identity +NM_004823.3:c.479G>A NP_004814.1:p.Arg160His NC_000019.10:38326748:G:A p.(Arg160His) NC_000019.10:38326748:G:A p.(Arg160His) NC_000019.10:38326748:G:A Identity +NM_001257199.2:c.325A>G NP_001244128.1:p.Ile109Val NC_000012.12:50106320:A:G p.(Ile109Val) NC_000012.12:50106320:A:G p.(Ile109Val) NC_000012.12:50106320:A:G Identity +NM_001368116.1:c.892C>T NP_001355045.1:p.Arg298Cys NC_000006.12:154422576:G:A p.(Arg298Cys) NC_000006.12:154422576:G:A p.(Arg298Cys) NC_000006.12:154422576:G:A Identity +NM_001297418.2:c.140T>C NP_001284347.1:p.Met47Thr NC_000019.10:8465384:T:C p.(Met47Thr) NC_000019.10:8465384:T:C p.(Met47Thr) NC_000019.10:8465384:T:C Identity +NM_052935.5:c.392A>G NP_443167.4:p.Asn131Ser NC_000017.11:41830812:T:C p.(Asn131Ser) NC_000017.11:41830812:T:C p.(Asn131Ser) NC_000017.11:41830812:T:C Identity +NM_152608.4:c.517A>C NP_689821.3:p.Lys173Gln NC_000001.11:225992400:T:G p.(Lys173Gln) NC_000001.11:225992400:T:G p.(Lys173Gln) NC_000001.11:225992400:T:G Identity +NM_002059.5:c.293A>G NP_002050.1:p.Asn98Ser NC_000017.11:63880934:T:C p.(Asn98Ser) NC_000017.11:63880934:T:C p.(Asn98Ser) NC_000017.11:63880934:T:C Identity +NM_001114184.3:c.556G>T NP_001107656.1:p.Gly186Cys NC_000006.12:152994643:C:A p.(Gly186Cys) NC_000006.12:152994643:C:A p.(Gly186Cys) NC_000006.12:152994643:C:A Identity +NM_001001821.1:c.499A>G NP_001001821.1:p.Ile167Val NC_000001.11:248574258:T:C p.(Ile167Val) NC_000001.11:248574258:T:C p.(Ile167Val) NC_000001.11:248574258:T:C Identity +NM_005688.4:c.628G>A NP_005679.2:p.Ala210Thr NC_000003.12:183982970:C:T p.(Ala210Thr) NC_000003.12:183982970:C:T p.(Ala210Thr) NC_000003.12:183982970:C:T Identity +NM_002016.2:c.7646T>C NP_002007.1:p.Val2549Ala NC_000001.11:152307239:A:G p.(Val2549Ala) NC_000001.11:152307239:A:G p.(Val2549Ala) NC_000001.11:152307239:A:G Identity +NM_002016.2:c.7649G>T NP_002007.1:p.Gly2550Val NC_000001.11:152307236:C:A p.(Gly2550Val) NC_000001.11:152307236:C:A p.(Gly2550Val) NC_000001.11:152307236:C:A Identity +NM_020862.2:c.569C>T NP_065913.1:p.Thr190Ile NC_000019.10:39314767:G:A p.(Thr190Ile) NC_000019.10:39314767:G:A p.(Thr190Ile) NC_000019.10:39314767:G:A Identity +NM_000569.8:c.298G>A NP_000560.7:p.Val100Met NC_000001.11:161548441:C:T p.(Val100Met) NC_000001.11:161548441:C:T p.(Val100Met) NC_000001.11:161548441:C:T Identity +NM_201589.4:c.841A>G NP_963883.2:p.Ile281Val NC_000008.11:143429565:T:C p.(Ile281Val) NC_000008.11:143429565:T:C p.(Ile281Val) NC_000008.11:143429565:T:C Identity +NM_001111038.2:c.1417C>A NP_001104508.1:p.Leu473Ile NC_000007.14:102878421:G:T p.(Leu473Ile) NC_000007.14:102878421:G:T p.(Leu473Ile) NC_000007.14:102878421:G:T Identity +NM_001350299.2:c.2605A>G NP_001337228.1:p.Asn869Asp NC_000006.12:130869720:T:C p.(Asn869Asp) NC_000006.12:130869720:T:C p.(Asn869Asp) NC_000006.12:130869720:T:C Identity +NM_006239.3:c.1681G>A NP_006230.2:p.Ala561Thr NC_000004.12:75867387:C:T p.(Ala561Thr) NC_000004.12:75867387:C:T p.(Ala561Thr) NC_000004.12:75867387:C:T Identity +NM_003175.4:c.76G>A NP_003166.1:p.Val26Ile NC_000001.11:168542092:C:T p.(Val26Ile) NC_000001.11:168542092:C:T p.(Val26Ile) NC_000001.11:168542092:C:T Identity +NM_001130688.1:c.493A>G NP_001124160.1:p.Lys165Glu NC_000004.12:173332216:T:C p.(Lys165Glu) NC_000004.12:173332216:T:C p.(Lys165Glu) NC_000004.12:173332216:T:C Identity +NM_002356.7:c.428C>T NP_002347.5:p.Thr143Met NC_000006.12:113860007:C:T p.(Thr143Met) NC_000006.12:113860007:C:T p.(Thr143Met) NC_000006.12:113860007:C:T Identity +NM_001286561.2:c.3117C>A NP_001273490.1:p.Asn1039Lys NC_000011.10:72014385:G:T p.(Asn1039Lys) NC_000011.10:72014385:G:T p.(Asn1039Lys) NC_000011.10:72014385:G:T Identity +NM_001001851.3:c.781A>G NP_001001851.1:p.Arg261Gly NC_000010.11:7617153:T:C p.(Arg261Gly) NC_000010.11:7617153:T:C p.(Arg261Gly) NC_000010.11:7617153:T:C Identity +NM_007361.4:c.3455G>A NP_031387.3:p.Arg1152Gln NC_000014.9:52011648:C:T p.(Arg1152Gln) NC_000014.9:52011648:C:T p.(Arg1152Gln) NC_000014.9:52011648:C:T Identity +NM_015231.3:c.3926A>C NP_056046.2:p.Asn1309Thr NC_000011.10:47783160:T:G p.(Asn1309Thr) NC_000011.10:47783160:T:G p.(Asn1309Thr) NC_000011.10:47783160:T:G Identity +NM_001073.3:c.219A>C NP_001064.1:p.Lys73Asn NC_000004.12:69214503:T:G p.(Lys73Asn) NC_000004.12:69214503:T:G p.(Lys73Asn) NC_000004.12:69214503:T:G Identity +NM_001308123.2:c.437G>A NP_001295052.1:p.Arg146Gln NC_000018.10:35339959:C:T p.(Arg146Gln) NC_000018.10:35339959:C:T p.(Arg146Gln) NC_000018.10:35339959:C:T Identity +NM_001375323.1:c.1610C>T NP_001362252.1:p.Pro537Leu NC_000006.12:144793857:C:T p.(Pro537Leu) NC_000006.12:144793857:C:T p.(Pro537Leu) NC_000006.12:144793857:C:T Identity +NM_006473.4:c.572C>T NP_006464.1:p.Ala191Val NC_000011.10:62781933:C:T p.(Ala191Val) NC_000011.10:62781933:C:T p.(Ala191Val) NC_000011.10:62781933:C:T Identity +NM_001145396.2:c.1303C>T NP_001138868.1:p.Arg435Trp NC_000019.10:49464649:C:T p.(Arg435Trp) NC_000019.10:49464649:C:T p.(Arg435Trp) NC_000019.10:49464649:C:T Identity +NM_001291088.2:c.8219G>A NP_001278017.1:p.Arg2740His NC_000019.10:37885451:C:T p.(Arg2740His) NC_000019.10:37885451:C:T p.(Arg2740His) NC_000019.10:37885451:C:T Identity +NM_001386671.1:c.1996G>A NP_001373600.1:p.Ala666Thr NC_000011.10:76141230:G:A p.(Ala666Thr) NC_000011.10:76141230:G:A p.(Ala666Thr) NC_000011.10:76141230:G:A Identity +NM_002039.4:c.1015G>A NP_002030.2:p.Asp339Asn NC_000004.12:143438419:G:A p.(Asp339Asn) NC_000004.12:143438419:G:A p.(Asp339Asn) NC_000004.12:143438419:G:A Identity +NM_024940.8:c.3415A>T NP_079216.4:p.Ser1139Cys NC_000008.11:25368701:A:T p.(Ser1139Cys) NC_000008.11:25368701:A:T p.(Ser1139Cys) NC_000008.11:25368701:A:T Identity +NM_001376036.1:c.1526C>A NP_001362965.1:p.Thr509Lys NC_000009.12:68991162:C:A p.(Thr509Lys) NC_000009.12:68991162:C:A p.(Thr509Lys) NC_000009.12:68991162:C:A Identity +NM_001145400.2:c.1043G>A NP_001138872.1:p.Arg348His NC_000016.10:84195687:G:A p.(Arg348His) NC_000016.10:84195687:G:A p.(Arg348His) NC_000016.10:84195687:G:A Identity +NM_016307.4:c.9C>A NP_057391.1:p.Ser3Arg NC_000009.12:129665875:C:A p.(Ser3Arg) NC_000009.12:129665875:C:A p.(Ser3Arg) NC_000009.12:129665875:C:A Identity +NM_001167580.3:c.1351A>T NP_001161052.1:p.Thr451Ser NC_000015.10:91289615:A:T p.(Thr451Ser) NC_000015.10:91289615:A:T p.(Thr451Ser) NC_000015.10:91289615:A:T Identity +NM_001113203.3:c.139C>T NP_001106674.2:p.Pro47Ser NC_000012.12:56721390:G:A p.(Pro47Ser) NC_000012.12:56721390:G:A p.(Pro47Ser) NC_000012.12:56721390:G:A Identity +NM_001631.5:c.425C>T NP_001622.2:p.Thr142Met NC_000002.12:232457022:C:T p.(Thr142Met) NC_000002.12:232457022:C:T p.(Thr142Met) NC_000002.12:232457022:C:T Identity +NM_001144663.2:c.2095C>T NP_001138135.1:p.Arg699Trp NC_000008.11:94145999:G:A p.(Arg699Trp) NC_000008.11:94145999:G:A p.(Arg699Trp) NC_000008.11:94145999:G:A Identity +NM_001166345.3:c.383C>T NP_001159817.1:p.Ser128Phe NC_000007.14:114979670:C:T p.(Ser128Phe) NC_000007.14:114979670:C:T p.(Ser128Phe) NC_000007.14:114979670:C:T Identity +NM_006851.3:c.600G>C NP_006842.2:p.Lys200Asn NC_000012.12:75495642:G:C p.(Lys200Asn) NC_000012.12:75495642:G:C p.(Lys200Asn) NC_000012.12:75495642:G:C Identity +NM_032509.4:c.427C>T NP_115898.2:p.Arg143Cys NC_000008.11:33490318:C:T p.(Arg143Cys) NC_000008.11:33490318:C:T p.(Arg143Cys) NC_000008.11:33490318:C:T Identity +NM_000092.5:c.2639C>G NP_000083.3:p.Ala880Gly NC_000002.12:227056021:G:C p.(Ala880Gly) NC_000002.12:227056021:G:C p.(Ala880Gly) NC_000002.12:227056021:G:C Identity +NM_001143987.2:c.1859G>A NP_001137459.1:p.Arg620His NC_000001.11:108467561:G:A p.(Arg620His) NC_000001.11:108467561:G:A p.(Arg620His) NC_000001.11:108467561:G:A Identity +NM_001379301.1:c.140A>T NP_001366230.1:p.Glu47Val NC_000001.11:33864330:A:T p.(Glu47Val) NC_000001.11:33864330:A:T p.(Glu47Val) NC_000001.11:33864330:A:T Identity +NM_018924.5:c.266G>T NP_061747.2:p.Arg89Leu NC_000005.10:141370659:G:T p.(Arg89Leu) NC_000005.10:141370659:G:T p.(Arg89Leu) NC_000005.10:141370659:G:T Identity +NM_178563.4:c.446C>G NP_848658.3:p.Ser149Cys NC_000007.14:135032870:C:G p.(Ser149Cys) NC_000007.14:135032870:C:G p.(Ser149Cys) NC_000007.14:135032870:C:G Identity +NM_001200.4:c.175A>G NP_001191.1:p.Ser59Gly NC_000020.11:6770300:A:G p.(Ser59Gly) NC_000020.11:6770300:A:G p.(Ser59Gly) NC_000020.11:6770300:A:G Identity +NM_001314030.2:c.460C>T NP_001300959.1:p.Pro154Ser NC_000012.12:49543334:C:T p.(Pro154Ser) NC_000012.12:49543334:C:T p.(Pro154Ser) NC_000012.12:49543334:C:T Identity +NM_005252.4:c.293T>C NP_005243.1:p.Val98Ala NC_000014.9:75280027:T:C p.(Val98Ala) NC_000014.9:75280027:T:C p.(Val98Ala) NC_000014.9:75280027:T:C Identity +NM_001017371.5:c.676G>A NP_001017371.3:p.Gly226Arg NC_000002.12:173955631:C:T p.(Gly226Arg) NC_000002.12:173955631:C:T p.(Gly226Arg) NC_000002.12:173955631:C:T Identity +NM_002282.3:c.1135G>C NP_002273.3:p.Ala379Pro NC_000012.12:52316019:C:G p.(Ala379Pro) NC_000012.12:52316019:C:G p.(Ala379Pro) NC_000012.12:52316019:C:G Identity +NM_018901.4:c.701C>T NP_061724.1:p.Ala234Val NC_000005.10:140856748:C:T p.(Ala234Val) NC_000005.10:140856748:C:T p.(Ala234Val) NC_000005.10:140856748:C:T Identity +NM_001869.3:c.434G>A NP_001860.2:p.Ser145Asn NC_000007.14:130273124:G:A p.(Ser145Asn) NC_000007.14:130273124:G:A p.(Ser145Asn) NC_000007.14:130273124:G:A Identity +NM_052963.3:c.224G>A NP_443195.1:p.Arg75His NC_000008.11:143331237:C:T p.(Arg75His) NC_000008.11:143331237:C:T p.(Arg75His) NC_000008.11:143331237:C:T Identity +NM_152635.3:c.59T>C NP_689848.1:p.Val20Ala NC_000010.11:72893856:T:C p.(Val20Ala) NC_000010.11:72893856:T:C p.(Val20Ala) NC_000010.11:72893856:T:C Identity +NM_024881.5:c.699T>A NP_079157.3:p.Phe233Leu NC_000019.10:16566588:A:T p.(Phe233Leu) NC_000019.10:16566588:A:T p.(Phe233Leu) NC_000019.10:16566588:A:T Identity +NM_138295.5:c.4105G>A NP_612152.1:p.Gly1369Ser NC_000007.14:47865259:C:T p.(Gly1369Ser) NC_000007.14:47865259:C:T p.(Gly1369Ser) NC_000007.14:47865259:C:T Identity +NM_001029871.4:c.134A>G NP_001025042.2:p.Asn45Ser NC_000020.11:968083:T:C p.(Asn45Ser) NC_000020.11:968083:T:C p.(Asn45Ser) NC_000020.11:968083:T:C Identity +NM_080627.4:c.2686A>T NP_542194.2:p.Asn896Tyr NC_000020.11:36808640:T:A p.(Asn896Tyr) NC_000020.11:36808640:T:A p.(Asn896Tyr) NC_000020.11:36808640:T:A Identity +NM_001004351.5:c.1634G>C NP_001004351.3:p.Arg545Pro NC_000007.14:100319973:G:C p.(Arg545Pro) NC_000007.14:100319973:G:C p.(Arg545Pro) NC_000007.14:100319973:G:C Identity +NM_001267782.2:c.3830A>G NP_001254711.1:p.Asn1277Ser NC_000011.10:46397525:T:C p.(Asn1277Ser) NC_000011.10:46397525:T:C p.(Asn1277Ser) NC_000011.10:46397525:T:C Identity +NM_001320747.2:c.1946A>G NP_001307676.1:p.Tyr649Cys NC_000017.11:76015458:T:C p.(Tyr649Cys) NC_000017.11:76015458:T:C p.(Tyr649Cys) NC_000017.11:76015458:T:C Identity +NM_001088.3:c.425G>A NP_001079.1:p.Arg142His NC_000017.11:76469770:G:A p.(Arg142His) NC_000017.11:76469770:G:A p.(Arg142His) NC_000017.11:76469770:G:A Identity +NM_145257.5:c.212G>A NP_660300.3:p.Gly71Asp NC_000001.11:229342253:C:T p.(Gly71Asp) NC_000001.11:229342253:C:T p.(Gly71Asp) NC_000001.11:229342253:C:T Identity +NM_032108.4:c.1768C>G NP_115484.2:p.Arg590Gly NC_000019.10:4544499:G:C p.(Arg590Gly) NC_000019.10:4544499:G:C p.(Arg590Gly) NC_000019.10:4544499:G:C Identity +NM_001145475.3:c.3613G>T NP_001138947.1:p.Val1205Phe NC_000012.12:50353218:C:A p.(Val1205Phe) NC_000012.12:50353218:C:A p.(Val1205Phe) NC_000012.12:50353218:C:A Identity +NM_001146102.2:c.557G>A NP_001139574.1:p.Gly186Glu NC_000003.12:122555718:C:T p.(Gly186Glu) NC_000003.12:122555718:C:T p.(Gly186Glu) NC_000003.12:122555718:C:T Identity +NM_001349127.2:c.43C>G NP_001336056.1:p.His15Asp NC_000001.11:43991920:C:G p.(His15Asp) NC_000001.11:43991920:C:G p.(His15Asp) NC_000001.11:43991920:C:G Identity +NM_024940.8:c.739G>A NP_079216.4:p.Asp247Asn NC_000008.11:25299075:G:A p.(Asp247Asn) NC_000008.11:25299075:G:A p.(Asp247Asn) NC_000008.11:25299075:G:A Identity +NM_003817.4:c.886C>T NP_003808.2:p.Leu296Phe NC_000008.11:24485286:C:T p.(Leu296Phe) NC_000008.11:24485286:C:T p.(Leu296Phe) NC_000008.11:24485286:C:T Identity +NM_001365116.2:c.6959G>A NP_001352045.1:p.Arg2320His NC_000003.12:47006375:G:A p.(Arg2320His) NC_000003.12:47006375:G:A p.(Arg2320His) NC_000003.12:47006375:G:A Identity +NM_001278657.2:c.12C>G NP_001265586.1:p.Ile4Met NC_000022.11:42614845:G:C p.(Ile4Met) NC_000022.11:42614845:G:C p.(Ile4Met) NC_000022.11:42614845:G:C Identity +NM_033225.6:c.7222T>A NP_150094.5:p.Leu2408Ile NC_000008.11:3091578:A:T p.(Leu2408Ile) NC_000008.11:3091578:A:T p.(Leu2408Ile) NC_000008.11:3091578:A:T Identity +NM_001005491.2:c.855T>G NP_001005491.2:p.Ile285Met NC_000011.10:55967668:A:C p.(Ile285Met) NC_000011.10:55967668:A:C p.(Ile285Met) NC_000011.10:55967668:A:C Identity +NM_001318134.2:c.1133C>T NP_001305063.1:p.Pro378Leu NC_000004.12:883348:G:A p.(Pro378Leu) NC_000004.12:883348:G:A p.(Pro378Leu) NC_000004.12:883348:G:A Identity +NM_152679.4:c.149T>C NP_689892.1:p.Leu50Pro NC_000004.12:48483709:T:C p.(Leu50Pro) NC_000004.12:48483709:T:C p.(Leu50Pro) NC_000004.12:48483709:T:C Identity +NM_007111.5:c.922G>A NP_009042.1:p.Gly308Arg NC_000013.11:113636615:G:A p.(Gly308Arg) NC_000013.11:113636615:G:A p.(Gly308Arg) NC_000013.11:113636615:G:A Identity +NM_001162951.4:c.1030A>G NP_001156423.1:p.Ser344Gly NC_000011.10:85734295:T:C p.(Ser344Gly) NC_000011.10:85734295:T:C p.(Ser344Gly) NC_000011.10:85734295:T:C Identity +NM_020121.4:c.3946C>A NP_064506.3:p.Leu1316Ile NC_000013.11:95856219:G:T p.(Leu1316Ile) NC_000013.11:95856219:G:T p.(Leu1316Ile) NC_000013.11:95856219:G:T Identity +NM_002258.3:c.74C>A NP_002249.1:p.Ser25Tyr NC_000012.12:9607765:G:T p.(Ser25Tyr) NC_000012.12:9607765:G:T p.(Ser25Tyr) NC_000012.12:9607765:G:T Identity +NM_001350929.2:c.7323G>T NP_001337858.1:p.Glu2441Asp NC_000014.9:104947827:C:A p.(Glu2441Asp) NC_000014.9:104947827:C:A p.(Glu2441Asp) NC_000014.9:104947827:C:A Identity +NM_007224.4:c.508G>C NP_009155.1:p.Gly170Arg NC_000012.12:57225327:G:C p.(Gly170Arg) NC_000012.12:57225327:G:C p.(Gly170Arg) NC_000012.12:57225327:G:C Identity +NM_031921.6:c.179A>T NP_114127.3:p.Lys60Met NC_000001.11:1472062:A:T p.(Lys60Met) NC_000001.11:1472062:A:T p.(Lys60Met) NC_000001.11:1472062:A:T Identity +NM_018998.4:c.1277A>G NP_061871.1:p.Asn426Ser NC_000009.12:136941430:T:C p.(Asn426Ser) NC_000009.12:136941430:T:C p.(Asn426Ser) NC_000009.12:136941430:T:C Identity +NM_001101800.3:c.1487G>A NP_001095270.1:p.Gly496Glu NC_000005.10:137954330:C:T p.(Gly496Glu) NC_000005.10:137954330:C:T p.(Gly496Glu) NC_000005.10:137954330:C:T Identity +NM_001366322.1:c.779C>T NP_001353251.1:p.Thr260Met NC_000016.10:89198210:G:A p.(Thr260Met) NC_000016.10:89198210:G:A p.(Thr260Met) NC_000016.10:89198210:G:A Identity +NM_005167.7:c.805C>A NP_005158.5:p.Leu269Ile NC_000001.11:112712381:G:T p.(Leu269Ile) NC_000001.11:112712381:G:T p.(Leu269Ile) NC_000001.11:112712381:G:T Identity +NM_001127255.2:c.8C>T NP_001120727.1:p.Ser3Leu NC_000019.10:54941703:G:A p.(Ser3Leu) NC_000019.10:54941703:G:A p.(Ser3Leu) NC_000019.10:54941703:G:A Identity +NM_005791.3:c.145T>C NP_005782.1:p.Phe49Leu NC_000002.12:71132952:T:C p.(Phe49Leu) NC_000002.12:71132952:T:C p.(Phe49Leu) NC_000002.12:71132952:T:C Identity +NM_001300868.2:c.485T>A NP_001287797.1:p.Leu162His NC_000011.10:66368601:A:T p.(Leu162His) NC_000011.10:66368601:A:T p.(Leu162His) NC_000011.10:66368601:A:T Identity +NM_017728.4:c.1195G>A NP_060198.3:p.Val399Met NC_000017.11:74836390:G:A p.(Val399Met) NC_000017.11:74836390:G:A p.(Val399Met) NC_000017.11:74836390:G:A Identity +NM_000803.5:c.187A>G NP_000794.3:p.Ser63Gly NC_000011.10:72220905:A:G p.(Ser63Gly) NC_000011.10:72220905:A:G p.(Ser63Gly) NC_000011.10:72220905:A:G Identity +NM_020120.4:c.2457A>C NP_064505.1:p.Gln819His NC_000002.12:128159614:A:C p.(Gln819His) NC_000002.12:128159614:A:C p.(Gln819His) NC_000002.12:128159614:A:C Identity +NM_001145107.2:c.1377G>T NP_001138579.1:p.Glu459Asp NC_000012.12:44703816:C:A p.(Glu459Asp) NC_000012.12:44703816:C:A p.(Glu459Asp) NC_000012.12:44703816:C:A Identity +NM_003619.4:c.2020G>T NP_003610.2:p.Ala674Ser NC_000004.12:118294957:C:A p.(Ala674Ser) NC_000004.12:118294957:C:A p.(Ala674Ser) NC_000004.12:118294957:C:A Identity +NM_002180.3:c.2407G>A NP_002171.2:p.Ala803Thr NC_000011.10:68936886:G:A p.(Ala803Thr) NC_000011.10:68936886:G:A p.(Ala803Thr) NC_000011.10:68936886:G:A Identity +NM_033515.3:c.424C>T NP_277050.2:p.Arg142Trp NC_000006.12:129638521:G:A p.(Arg142Trp) NC_000006.12:129638521:G:A p.(Arg142Trp) NC_000006.12:129638521:G:A Identity +NM_001136103.3:c.2072C>T NP_001129575.2:p.Ala691Val NC_000012.12:128697365:C:T p.(Ala691Val) NC_000012.12:128697365:C:T p.(Ala691Val) NC_000012.12:128697365:C:T Identity +NM_001164694.2:c.428C>A NP_001158166.1:p.Pro143Gln NC_000006.12:150392401:C:A p.(Pro143Gln) NC_000006.12:150392401:C:A p.(Pro143Gln) NC_000006.12:150392401:C:A Identity +NM_001100431.2:c.440C>T NP_001093901.1:p.Thr147Ile NC_000023.11:66028084:G:A p.(Thr147Ile) NC_000023.11:66028084:G:A p.(Thr147Ile) NC_000023.11:66028084:G:A Identity +NM_001099415.3:c.2780C>T NP_001092885.2:p.Ala927Val NC_000007.14:75419405:G:A p.(Ala927Val) NC_000007.14:75419405:G:A p.(Ala927Val) NC_000007.14:75419405:G:A Identity +NM_001145811.2:c.790A>G NP_001139283.1:p.Met264Val NC_000011.10:16111910:T:C p.(Met264Val) NC_000011.10:16111910:T:C p.(Met264Val) NC_000011.10:16111910:T:C Identity +NM_001318170.2:c.232G>A NP_001305099.1:p.Asp78Asn NC_000010.11:28149983:C:T p.(Asp78Asn) NC_000010.11:28149983:C:T p.(Asp78Asn) NC_000010.11:28149983:C:T Identity +NM_022902.5:c.512T>A NP_075053.2:p.Leu171His NC_000005.10:69113203:T:A p.(Leu171His) NC_000005.10:69113203:T:A p.(Leu171His) NC_000005.10:69113203:T:A Identity +NM_015123.3:c.2279C>G NP_055938.2:p.Thr760Ser NC_000003.12:69181470:G:C p.(Thr760Ser) NC_000003.12:69181470:G:C p.(Thr760Ser) NC_000003.12:69181470:G:C Identity +NM_001369698.1:c.1392T>G NP_001356627.1:p.Asp464Glu NC_000017.11:81569087:A:C p.(Asp464Glu) NC_000017.11:81569087:A:C p.(Asp464Glu) NC_000017.11:81569087:A:C Identity +NM_001304453.1:c.136C>T NP_001291382.1:p.Arg46Trp NC_000019.10:58477353:C:T p.(Arg46Trp) NC_000019.10:58477353:C:T p.(Arg46Trp) NC_000019.10:58477353:C:T Identity +NM_001039960.3:c.2141C>T NP_001035049.1:p.Thr714Met NC_000012.12:51475174:C:T p.(Thr714Met) NC_000012.12:51475174:C:T p.(Thr714Met) NC_000012.12:51475174:C:T Identity +NM_022843.4:c.2560G>A NP_073754.2:p.Glu854Lys NC_000013.11:61411538:C:T p.(Glu854Lys) NC_000013.11:61411538:C:T p.(Glu854Lys) NC_000013.11:61411538:C:T Identity +NM_001007122.4:c.2095A>G NP_001007123.1:p.Lys699Glu NC_000015.10:82759502:T:C p.(Lys699Glu) NC_000015.10:82759502:T:C p.(Lys699Glu) NC_000015.10:82759502:T:C Identity +NM_001367089.1:c.4310T>C NP_001354018.1:p.Ile1437Thr NC_000020.11:3691922:A:G p.(Ile1437Thr) NC_000020.11:3691922:A:G p.(Ile1437Thr) NC_000020.11:3691922:A:G Identity +NM_001350622.2:c.644C>G NP_001337551.1:p.Pro215Arg NC_000006.12:61894800:G:C p.(Pro215Arg) NC_000006.12:61894800:G:C p.(Pro215Arg) NC_000006.12:61894800:G:C Identity +NM_175053.4:c.1361C>G NP_778223.2:p.Ser454Cys NC_000012.12:52567687:G:C p.(Ser454Cys) NC_000012.12:52567687:G:C p.(Ser454Cys) NC_000012.12:52567687:G:C Identity +NM_015512.5:c.7226C>T NP_056327.4:p.Thr2409Met NC_000003.12:52378628:C:T p.(Thr2409Met) NC_000003.12:52378628:C:T p.(Thr2409Met) NC_000003.12:52378628:C:T Identity +NM_001307952.2:c.1147G>A NP_001294881.1:p.Val383Ile NC_000015.10:88878091:C:T p.(Val383Ile) NC_000015.10:88878091:C:T p.(Val383Ile) NC_000015.10:88878091:C:T Identity +NM_004223.5:c.325A>C NP_004214.1:p.Asn109His NC_000011.10:57552494:T:G p.(Asn109His) NC_000011.10:57552494:T:G p.(Asn109His) NC_000011.10:57552494:T:G Identity +NM_001256725.2:c.1690G>C NP_001243654.1:p.Gly564Arg NC_000002.12:85648799:G:C p.(Gly564Arg) NC_000002.12:85648799:G:C p.(Gly564Arg) NC_000002.12:85648799:G:C Identity +NM_002577.4:c.943G>T NP_002568.2:p.Val315Leu NC_000003.12:196814457:G:T p.(Val315Leu) NC_000003.12:196814457:G:T p.(Val315Leu) NC_000003.12:196814457:G:T Identity +NM_001146261.4:c.1321G>A NP_001139733.1:p.Val441Met NC_000001.11:210155741:G:A p.(Val441Met) NC_000001.11:210155741:G:A p.(Val441Met) NC_000001.11:210155741:G:A Identity +NM_001318781.2:c.2909C>T NP_001305710.1:p.Thr970Met NC_000003.12:64615990:G:A p.(Thr970Met) NC_000003.12:64615990:G:A p.(Thr970Met) NC_000003.12:64615990:G:A Identity +NM_001349955.1:c.2354A>G NP_001336884.1:p.Asn785Ser NC_000001.11:85745489:T:C p.(Asn785Ser) NC_000001.11:85745489:T:C p.(Asn785Ser) NC_000001.11:85745489:T:C Identity +NM_016943.2:c.80T>C NP_058639.1:p.Ile27Thr NC_000007.14:141764237:T:C p.(Ile27Thr) NC_000007.14:141764237:T:C p.(Ile27Thr) NC_000007.14:141764237:T:C Identity +NM_152625.3:c.218G>A NP_689838.1:p.Gly73Glu NC_000005.10:72461278:C:T p.(Gly73Glu) NC_000005.10:72461278:C:T p.(Gly73Glu) NC_000005.10:72461278:C:T Identity +NM_001008270.3:c.127G>A NP_001008271.2:p.Val43Ile NC_000007.14:141839386:C:T p.(Val43Ile) NC_000007.14:141839386:C:T p.(Val43Ile) NC_000007.14:141839386:C:T Identity +NM_001009905.3:c.760G>A NP_001009905.2:p.Ala254Thr NC_000017.11:82957414:C:T p.(Ala254Thr) NC_000017.11:82957414:C:T p.(Ala254Thr) NC_000017.11:82957414:C:T Identity +NM_000587.4:c.1940C>G NP_000578.2:p.Pro647Arg NC_000005.10:40972459:C:G p.(Pro647Arg) NC_000005.10:40972459:C:G p.(Pro647Arg) NC_000005.10:40972459:C:G Identity +NM_001168247.3:c.1047C>A NP_001161719.1:p.Asp349Glu NC_000001.11:41017287:G:T p.(Asp349Glu) NC_000001.11:41017287:G:T p.(Asp349Glu) NC_000001.11:41017287:G:T Identity +NM_000843.4:c.149G>T NP_000834.2:p.Arg50Leu NC_000005.10:178994795:C:A p.(Arg50Leu) NC_000005.10:178994795:C:A p.(Arg50Leu) NC_000005.10:178994795:C:A Identity +NM_199243.3:c.584C>T NP_954713.1:p.Pro195Leu NC_000005.10:95620858:C:T p.(Pro195Leu) NC_000005.10:95620858:C:T p.(Pro195Leu) NC_000005.10:95620858:C:T Identity +NM_001098412.4:c.79A>G NP_001091882.2:p.Met27Val NC_000023.11:49332815:A:G p.(Met27Val) NC_000023.11:49332815:A:G p.(Met27Val) NC_000023.11:49332815:A:G Identity +NM_001080419.3:c.1130G>C NP_001073888.2:p.Gly377Ala NC_000017.11:75817350:G:C p.(Gly377Ala) NC_000017.11:75817350:G:C p.(Gly377Ala) NC_000017.11:75817350:G:C Identity +NM_001203263.2:c.2116G>C NP_001190192.2:p.Gly706Arg NC_000003.12:9933584:G:C p.(Gly706Arg) NC_000003.12:9933584:G:C p.(Gly706Arg) NC_000003.12:9933584:G:C Identity +NM_001136022.3:c.361C>A NP_001129494.1:p.Pro121Thr NC_000014.9:24369569:C:A p.(Pro121Thr) NC_000014.9:24369569:C:A p.(Pro121Thr) NC_000014.9:24369569:C:A Identity +NM_000779.4:c.842G>C NP_000770.2:p.Arg281Thr NC_000001.11:46814277:G:C p.(Arg281Thr) NC_000001.11:46814277:G:C p.(Arg281Thr) NC_000001.11:46814277:G:C Identity +NM_001080466.2:c.229G>A NP_001073935.1:p.Val77Ile NC_000017.11:74360101:C:T p.(Val77Ile) NC_000017.11:74360101:C:T p.(Val77Ile) NC_000017.11:74360101:C:T Identity +NM_001321190.2:c.873C>G NP_001308119.1:p.Ile291Met NC_000019.10:49011283:C:G p.(Ile291Met) NC_000019.10:49011283:C:G p.(Ile291Met) NC_000019.10:49011283:C:G Identity +NM_001128303.2:c.359A>G NP_001121775.1:p.Asp120Gly NC_000013.11:43881343:A:G p.(Asp120Gly) NC_000013.11:43881343:A:G p.(Asp120Gly) NC_000013.11:43881343:A:G Identity +NM_001113203.3:c.1111G>A NP_001106674.2:p.Val371Met NC_000012.12:56720418:C:T p.(Val371Met) NC_000012.12:56720418:C:T p.(Val371Met) NC_000012.12:56720418:C:T Identity +NM_001282795.2:c.950A>G NP_001269724.1:p.Tyr317Cys NC_000008.11:144842023:A:G p.(Tyr317Cys) NC_000008.11:144842023:A:G p.(Tyr317Cys) NC_000008.11:144842023:A:G Identity +NM_001346218.2:c.2078C>T NP_001333147.1:p.Ser693Leu NC_000014.9:93575064:C:T p.(Ser693Leu) NC_000014.9:93575064:C:T p.(Ser693Leu) NC_000014.9:93575064:C:T Identity +NM_001199378.2:c.1409G>A NP_001186307.1:p.Arg470Gln NC_000010.11:102361037:G:A p.(Arg470Gln) NC_000010.11:102361037:G:A p.(Arg470Gln) NC_000010.11:102361037:G:A Identity +NM_001294340.2:c.2815G>A NP_001281269.1:p.Ala939Thr NC_000016.10:88631179:G:A p.(Ala939Thr) NC_000016.10:88631179:G:A p.(Ala939Thr) NC_000016.10:88631179:G:A Identity +NM_001394998.1:c.1901C>T NP_001381927.1:p.Ser634Leu NC_000017.11:63351342:C:T p.(Ser634Leu) NC_000017.11:63351342:C:T p.(Ser634Leu) NC_000017.11:63351342:C:T Identity +NM_001329729.2:c.679G>A NP_001316658.1:p.Asp227Asn NC_000016.10:50079006:G:A p.(Asp227Asn) NC_000016.10:50079006:G:A p.(Asp227Asn) NC_000016.10:50079006:G:A Identity +NM_002277.3:c.841G>T NP_002268.2:p.Ala281Ser NC_000017.11:41395279:C:A p.(Ala281Ser) NC_000017.11:41395279:C:A p.(Ala281Ser) NC_000017.11:41395279:C:A Identity +NM_001277731.2:c.1753C>T NP_001264660.1:p.Arg585Cys NC_000017.11:42854599:C:T p.(Arg585Cys) NC_000017.11:42854599:C:T p.(Arg585Cys) NC_000017.11:42854599:C:T Identity +NM_025059.4:c.1073G>A NP_079335.2:p.Arg358Gln NC_000006.12:151573471:G:A p.(Arg358Gln) NC_000006.12:151573471:G:A p.(Arg358Gln) NC_000006.12:151573471:G:A Identity +NM_006289.4:c.5600C>T NP_006280.3:p.Thr1867Ile NC_000009.12:35705762:G:A p.(Thr1867Ile) NC_000009.12:35705762:G:A p.(Thr1867Ile) NC_000009.12:35705762:G:A Identity +NM_001916.5:c.769G>C NP_001907.3:p.Asp257His NC_000008.11:144096740:G:C p.(Asp257His) NC_000008.11:144096740:G:C p.(Asp257His) NC_000008.11:144096740:G:C Identity +NM_033067.3:c.286C>T NP_149056.1:p.Arg96Cys NC_000001.11:53459738:C:T p.(Arg96Cys) NC_000001.11:53459738:C:T p.(Arg96Cys) NC_000001.11:53459738:C:T Identity +NM_001040455.2:c.1183A>G NP_001035545.1:p.Thr395Ala NC_000011.10:117188730:A:G p.(Thr395Ala) NC_000011.10:117188730:A:G p.(Thr395Ala) NC_000011.10:117188730:A:G Identity +NM_173651.4:c.15560T>C NP_775922.3:p.Ile5187Thr NC_000002.12:185804865:T:C p.(Ile5187Thr) NC_000002.12:185804865:T:C p.(Ile5187Thr) NC_000002.12:185804865:T:C Identity +NM_002034.2:c.179A>G NP_002025.2:p.Asn60Ser NC_000019.10:5867546:T:C p.(Asn60Ser) NC_000019.10:5867546:T:C p.(Asn60Ser) NC_000019.10:5867546:T:C Identity +NM_001243142.2:c.437T>A NP_001230071.1:p.Val146Asp NC_000015.10:41351120:T:A p.(Val146Asp) NC_000015.10:41351120:T:A p.(Val146Asp) NC_000015.10:41351120:T:A Identity +NM_002015.4:c.1414C>T NP_002006.2:p.Pro472Ser NC_000013.11:40560076:G:A p.(Pro472Ser) NC_000013.11:40560076:G:A p.(Pro472Ser) NC_000013.11:40560076:G:A Identity +NM_000767.5:c.985G>A NP_000758.1:p.Glu329Lys NC_000019.10:41012317:G:A p.(Glu329Lys) NC_000019.10:41012317:G:A p.(Glu329Lys) NC_000019.10:41012317:G:A Identity +NM_017442.4:c.487C>A NP_059138.1:p.Leu163Ile NC_000003.12:52223828:G:T p.(Leu163Ile) NC_000003.12:52223828:G:T p.(Leu163Ile) NC_000003.12:52223828:G:T Identity +NM_001136051.3:c.344A>G NP_001129523.1:p.Asn115Ser NC_000012.12:58890130:T:C p.(Asn115Ser) NC_000012.12:58890130:T:C p.(Asn115Ser) NC_000012.12:58890130:T:C Identity +NM_003469.5:c.372G>T NP_003460.2:p.Glu124Asp NC_000002.12:223598910:C:A p.(Glu124Asp) NC_000002.12:223598910:C:A p.(Glu124Asp) NC_000002.12:223598910:C:A Identity +NM_001129996.2:c.242G>A NP_001123468.1:p.Ser81Asn NC_000019.10:44027469:G:A p.(Ser81Asn) NC_000019.10:44027469:G:A p.(Ser81Asn) NC_000019.10:44027469:G:A Identity +NM_001012277.5:c.1210A>G NP_001012277.2:p.Ser404Gly NC_000001.11:12920197:A:G p.(Ser404Gly) NC_000001.11:12920197:A:G p.(Ser404Gly) NC_000001.11:12920197:A:G Identity +NM_003813.4:c.148A>G NP_003804.2:p.Ser50Gly NC_000014.9:70457646:A:G p.(Ser50Gly) NC_000014.9:70457646:A:G p.(Ser50Gly) NC_000014.9:70457646:A:G Identity +NM_001008530.3:c.321T>G NP_001008530.1:p.Asp107Glu NC_000014.9:92716218:A:C p.(Asp107Glu) NC_000014.9:92716218:A:C p.(Asp107Glu) NC_000014.9:92716218:A:C Identity +NM_005560.6:c.8841C>A NP_005551.3:p.Asp2947Glu NC_000020.11:62313201:G:T p.(Asp2947Glu) NC_000020.11:62313201:G:T p.(Asp2947Glu) NC_000020.11:62313201:G:T Identity +NM_001193285.3:c.904G>A NP_001180214.1:p.Ala302Thr NC_000019.10:4174699:C:T p.(Ala302Thr) NC_000019.10:4174699:C:T p.(Ala302Thr) NC_000019.10:4174699:C:T Identity +NM_001329137.2:c.1573C>A NP_001316066.1:p.Gln525Lys NC_000001.11:43591834:C:A p.(Gln525Lys) NC_000001.11:43591834:C:A p.(Gln525Lys) NC_000001.11:43591834:C:A Identity +NM_001033026.2:c.1256A>G NP_001028198.1:p.His419Arg NC_000019.10:1011156:T:C p.(His419Arg) NC_000019.10:1011156:T:C p.(His419Arg) NC_000019.10:1011156:T:C Identity +NM_004225.3:c.2186A>G NP_004216.2:p.Asn729Ser NC_000008.11:8890872:T:C p.(Asn729Ser) NC_000008.11:8890872:T:C p.(Asn729Ser) NC_000008.11:8890872:T:C Identity +NM_001406365.1:c.3508G>C NP_001393294.1:p.Glu1170Gln NC_000010.11:68646236:G:C p.(Glu1170Gln) NC_000010.11:68646236:G:C p.(Glu1170Gln) NC_000010.11:68646236:G:C Identity +NM_207336.3:c.325G>T NP_997219.1:p.Val109Phe NC_000007.14:149766176:C:A p.(Val109Phe) NC_000007.14:149766176:C:A p.(Val109Phe) NC_000007.14:149766176:C:A Identity +NM_001146254.2:c.692G>A NP_001139726.1:p.Arg231Gln NC_000019.10:13933967:C:T p.(Arg231Gln) NC_000019.10:13933967:C:T p.(Arg231Gln) NC_000019.10:13933967:C:T Identity +NM_001142593.3:c.428G>A NP_001136065.1:p.Arg143Gln NC_000014.9:92962785:C:T p.(Arg143Gln) NC_000014.9:92962785:C:T p.(Arg143Gln) NC_000014.9:92962785:C:T Identity +NM_006909.3:c.2731C>T NP_008840.1:p.Arg911Trp NC_000005.10:81180218:C:T p.(Arg911Trp) NC_000005.10:81180218:C:T p.(Arg911Trp) NC_000005.10:81180218:C:T Identity +NM_001178096.2:c.654A>G NP_001171567.1:p.Leu218= NC_000001.11:94530533:T:C p.(Leu218=) NC_000001.11:94530533:T:C p.(Leu218=) NC_000001.11:94530533:T:C Identity +NM_002059.5:c.352C>T NP_002050.1:p.Leu118Phe NC_000017.11:63880875:G:A p.(Leu118Phe) NC_000017.11:63880875:G:A p.(Leu118Phe) NC_000017.11:63880875:G:A Identity +NM_001141917.2:c.2957A>G NP_001135389.1:p.Gln986Arg NC_000009.12:34724282:T:C p.(Gln986Arg) NC_000009.12:34724282:T:C p.(Gln986Arg) NC_000009.12:34724282:T:C Identity +NM_001145159.3:c.628T>G NP_001138631.1:p.Tyr210Asp NC_000008.11:28812379:A:C p.(Tyr210Asp) NC_000008.11:28812379:A:C p.(Tyr210Asp) NC_000008.11:28812379:A:C Identity +NM_001079526.2:c.221A>T NP_001072994.1:p.His74Leu NC_000002.12:213057017:T:A p.(His74Leu) NC_000002.12:213057017:T:A p.(His74Leu) NC_000002.12:213057017:T:A Identity +NM_001308230.2:c.2711C>T NP_001295159.1:p.Ala904Val NC_000016.10:28835555:C:T p.(Ala904Val) NC_000016.10:28835555:C:T p.(Ala904Val) NC_000016.10:28835555:C:T Identity +NM_001277731.2:c.232C>T NP_001264660.1:p.Arg78Trp NC_000017.11:42851574:C:T p.(Arg78Trp) NC_000017.11:42851574:C:T p.(Arg78Trp) NC_000017.11:42851574:C:T Identity +NM_001039479.2:c.857G>C NP_001034568.1:p.Arg286Pro NC_000014.9:74675921:C:G p.(Arg286Pro) NC_000014.9:74675921:C:G p.(Arg286Pro) NC_000014.9:74675921:C:G Identity +NM_001243313.2:c.2962A>G NP_001230242.1:p.Arg988Gly NC_000002.12:218697968:A:G p.(Arg988Gly) NC_000002.12:218697968:A:G p.(Arg988Gly) NC_000002.12:218697968:A:G Identity +NM_001320412.2:c.541T>G NP_001307341.1:p.Phe181Val NC_000021.9:46151652:A:C p.(Phe181Val) NC_000021.9:46151652:A:C p.(Phe181Val) NC_000021.9:46151652:A:C Identity +NM_173500.4:c.959G>A NP_775771.3:p.Arg320His NC_000015.10:42794664:C:T p.(Arg320His) NC_000015.10:42794664:C:T p.(Arg320His) NC_000015.10:42794664:C:T Identity +NM_004455.3:c.1248G>T NP_004446.2:p.Glu416Asp NC_000001.11:26031472:G:T p.(Glu416Asp) NC_000001.11:26031472:G:T p.(Glu416Asp) NC_000001.11:26031472:G:T Identity +NM_001083900.1:c.39A>G NP_001077369.1:p.Ile13Met NC_000012.12:123767612:A:G ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001005739.2:c.682G>A NP_001005739.1:p.Glu228Lys NC_000002.12:63962349:C:T p.(Glu228Lys) NC_000002.12:63962349:C:T p.(Glu228Lys) NC_000002.12:63962349:C:T Identity +NM_001004456.2:c.415C>T NP_001004456.1:p.Arg139Cys NC_000019.10:9093658:C:T p.(Arg139Cys) NC_000019.10:9093658:C:T p.(Arg139Cys) NC_000019.10:9093658:C:T Identity +NM_001384354.1:c.386G>A NP_001371283.1:p.Gly129Asp NC_000020.11:59191404:G:A p.(Gly129Asp) NC_000020.11:59191404:G:A p.(Gly129Asp) NC_000020.11:59191404:G:A Identity +NM_001005338.2:c.771C>A NP_001005338.1:p.Phe257Leu NC_000003.12:98133467:C:A p.(Phe257Leu) NC_000003.12:98133467:C:A p.(Phe257Leu) NC_000003.12:98133467:C:A Identity +NM_001330069.2:c.379G>A NP_001316998.1:p.Asp127Asn NC_000014.9:29725559:C:T p.(Asp127Asn) NC_000014.9:29725559:C:T p.(Asp127Asn) NC_000014.9:29725559:C:T Identity +NM_016585.5:c.758C>G NP_057669.1:p.Ser253Cys NC_000019.10:367219:G:C p.(Ser253Cys) NC_000019.10:367219:G:C p.(Ser253Cys) NC_000019.10:367219:G:C Identity +NM_001410805.1:c.1274C>T NP_001397734.1:p.Ser425Leu NC_000003.12:128910099:C:T p.(Ser425Leu) NC_000003.12:128910099:C:T p.(Ser425Leu) NC_000003.12:128910099:C:T Identity +NM_015719.4:c.883G>A NP_056534.2:p.Ala295Thr NC_000019.10:10001847:C:T p.(Ala295Thr) NC_000019.10:10001847:C:T p.(Ala295Thr) NC_000019.10:10001847:C:T Identity +NM_001204760.2:c.608T>C NP_001191689.1:p.Ile203Thr NC_000004.12:165995153:T:C p.(Ile203Thr) NC_000004.12:165995153:T:C p.(Ile203Thr) NC_000004.12:165995153:T:C Identity +NM_001286496.2:c.1817G>A NP_001273425.1:p.Arg606His NC_000015.10:64816622:C:T p.(Arg606His) NC_000015.10:64816622:C:T p.(Arg606His) NC_000015.10:64816622:C:T Identity +NM_001202403.2:c.769G>A NP_001189332.1:p.Ala257Thr NC_000009.12:129638199:C:T p.(Ala257Thr) NC_000009.12:129638199:C:T p.(Ala257Thr) NC_000009.12:129638199:C:T Identity +NM_007187.5:c.721T>G NP_009118.1:p.Ser241Ala NC_000013.11:41076201:T:G p.(Ser241Ala) NC_000013.11:41076201:T:G p.(Ser241Ala) NC_000013.11:41076201:T:G Identity +NM_001146070.2:c.2156G>A NP_001139542.1:p.Arg719His NC_000013.11:60567561:G:A p.(Arg719His) NC_000013.11:60567561:G:A p.(Arg719His) NC_000013.11:60567561:G:A Identity +NM_001297439.2:c.1958G>A NP_001284368.1:p.Arg653Gln NC_000004.12:3449387:G:A p.(Arg653Gln) NC_000004.12:3449387:G:A p.(Arg653Gln) NC_000004.12:3449387:G:A Identity +NM_001366725.1:c.466G>C NP_001353654.1:p.Ala156Pro NC_000022.11:35551696:G:C p.(Ala156Pro) NC_000022.11:35551696:G:C p.(Ala156Pro) NC_000022.11:35551696:G:C Identity +NM_001100108.1:c.2103G>C NP_001093578.1:p.Lys701Asn NC_000001.11:179109118:C:G ERR:Data provider error: ValueError: Transcript NM_001100108.1 not found ERR:Data provider error: ValueError: Transcript NM_001100108.1 not found ERR:AlignmentMapper(tx_ac=NM_001100108.1, alt_ac=NM_001100108.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001100108.1, alt_ac=NM_001100108.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001100108.1 not found +NM_004818.3:c.1073C>G NP_004809.2:p.Ser358Cys NC_000012.12:48836731:G:C p.(Ser358Cys) NC_000012.12:48836731:G:C p.(Ser358Cys) NC_000012.12:48836731:G:C Identity +NM_021003.5:c.942C>G NP_066283.1:p.Cys314Trp NC_000014.9:60285730:C:G p.(Cys314Trp) NC_000014.9:60285730:C:G p.(Cys314Trp) NC_000014.9:60285730:C:G Identity +NM_015656.2:c.5453G>A NP_056471.1:p.Arg1818His NC_000014.9:104179371:G:A p.(Arg1818His) NC_000014.9:104179371:G:A p.(Arg1818His) NC_000014.9:104179371:G:A Identity +NM_001144925.2:c.548C>T NP_001138397.1:p.Thr183Ile NC_000021.9:41439804:C:T p.(Thr183Ile) NC_000021.9:41439804:C:T p.(Thr183Ile) NC_000021.9:41439804:C:T Identity +NM_152411.4:c.883C>T NP_689624.2:p.Pro295Ser NC_000007.14:149071888:G:A p.(Pro295Ser) NC_000007.14:149071888:G:A p.(Pro295Ser) NC_000007.14:149071888:G:A Identity +NM_001393769.1:c.1361T>G NP_001380698.1:p.Val454Gly NC_000003.12:151165848:T:G p.(Val454Gly) NC_000003.12:151165848:T:G p.(Val454Gly) NC_000003.12:151165848:T:G Identity +NM_001354798.2:c.566C>T NP_001341727.1:p.Ala189Val NC_000003.12:39391961:C:T p.(Ala189Val) NC_000003.12:39391961:C:T p.(Ala189Val) NC_000003.12:39391961:C:T Identity +NM_152727.6:c.767G>A NP_689940.3:p.Arg256Gln NC_000016.10:57121177:G:A p.(Arg256Gln) NC_000016.10:57121177:G:A p.(Arg256Gln) NC_000016.10:57121177:G:A Identity +NM_001004760.3:c.313T>G NP_001004760.3:p.Tyr105Asp NC_000011.10:5200369:A:C p.(Tyr105Asp) NC_000011.10:5200369:A:C p.(Tyr105Asp) NC_000011.10:5200369:A:C Identity +NM_001317037.2:c.589C>T NP_001303966.1:p.Arg197Trp NC_000009.12:127720365:C:T p.(Arg197Trp) NC_000009.12:127720365:C:T p.(Arg197Trp) NC_000009.12:127720365:C:T Identity +NM_175710.2:c.651G>C NP_783641.1:p.Trp217Cys NC_000001.11:207694539:G:C p.(Trp217Cys) NC_000001.11:207694539:G:C p.(Trp217Cys) NC_000001.11:207694539:G:C Identity +NM_007039.4:c.1288G>C NP_008970.2:p.Asp430His NC_000014.9:88480142:C:G p.(Asp430His) NC_000014.9:88480142:C:G p.(Asp430His) NC_000014.9:88480142:C:G Identity +NM_004667.6:c.6672G>A NP_004658.3:p.Met2224Ile NC_000015.10:28213855:C:T p.(Met2224Ile) NC_000015.10:28213855:C:T p.(Met2224Ile) NC_000015.10:28213855:C:T Identity +NM_001310214.3:c.1339C>T NP_001297143.1:p.Arg447Cys NC_000005.10:23526426:C:T ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001310214.3, alt_ac=NM_001310214.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001310214.3 not found +NM_001388404.1:c.749G>A NP_001375333.1:p.Gly250Asp NC_000001.11:226736709:C:T p.(Gly250Asp) NC_000001.11:226736709:C:T p.(Gly250Asp) NC_000001.11:226736709:C:T Identity +NM_001171968.3:c.444A>C NP_001165439.2:p.Gln148His NC_000011.10:621624:T:G p.(Gln148His) NC_000011.10:621624:T:G p.(Gln148His) NC_000011.10:621624:T:G Identity +NM_001083615.4:c.311T>A NP_001077084.2:p.Leu104Gln NC_000002.12:170200273:T:A p.(Leu104Gln) NC_000002.12:170200273:T:A p.(Leu104Gln) NC_000002.12:170200273:T:A Identity +NM_001134473.3:c.2135G>A NP_001127945.1:p.Arg712Lys NC_000016.10:85663416:G:A p.(Arg712Lys) NC_000016.10:85663416:G:A p.(Arg712Lys) NC_000016.10:85663416:G:A Identity +NM_005858.4:c.1112G>C NP_005849.1:p.Arg371Thr NC_000019.10:15368282:C:G p.(Arg371Thr) NC_000019.10:15368282:C:G p.(Arg371Thr) NC_000019.10:15368282:C:G Identity +NM_001300814.1:c.58C>T NP_001287743.1:p.Arg20Trp NC_000012.12:52848117:G:A p.(Arg20Trp) NC_000012.12:52848117:G:A p.(Arg20Trp) NC_000012.12:52848117:G:A Identity +NM_001161546.2:c.827G>A NP_001155018.1:p.Arg276Gln NC_000005.10:139394254:C:T p.(Arg276Gln) NC_000005.10:139394254:C:T p.(Arg276Gln) NC_000005.10:139394254:C:T Identity +NM_005362.4:c.100G>C NP_005353.1:p.Glu34Gln NC_000023.11:152700931:G:C p.(Glu34Gln) NC_000023.11:152700931:G:C p.(Glu34Gln) NC_000023.11:152700931:G:C Identity +NM_001193282.4:c.1348G>T NP_001180211.2:p.Ala450Ser NC_000004.12:2459150:G:T p.(Ala450Ser) NC_000004.12:2459150:G:T p.(Ala450Ser) NC_000004.12:2459150:G:T Identity +NM_001168724.2:c.1257G>T NP_001162195.1:p.Arg419Ser NC_000011.10:87321278:G:T p.(Arg419Ser) NC_000011.10:87321278:G:T p.(Arg419Ser) NC_000011.10:87321278:G:T Identity +NM_001143909.1:c.331A>T NP_001137381.1:p.Asn111Tyr NC_000010.11:103246326:A:T p.(Asn111Tyr) NC_000010.11:103246326:A:T p.(Asn111Tyr) NC_000010.11:103246326:A:T Identity +NM_001243108.2:c.1108G>A NP_001230037.1:p.Val370Ile NC_000017.11:4814645:G:A p.(Val370Ile) NC_000017.11:4814645:G:A p.(Val370Ile) NC_000017.11:4814645:G:A Identity +NM_001326542.2:c.1220C>T NP_001313471.1:p.Ser407Leu NC_000007.14:21430435:C:T p.(Ser407Leu) NC_000007.14:21430435:C:T p.(Ser407Leu) NC_000007.14:21430435:C:T Identity +NM_001037335.2:c.5929C>T NP_001032412.2:p.Arg1977Trp NC_000020.11:63562892:G:A p.(Arg1977Trp) NC_000020.11:63562892:G:A p.(Arg1977Trp) NC_000020.11:63562892:G:A Identity +NM_001001795.2:c.523G>A NP_001001795.1:p.Glu175Lys NC_000008.11:144527469:C:T p.(Glu175Lys) NC_000008.11:144527469:C:T p.(Glu175Lys) NC_000008.11:144527469:C:T Identity +NM_001105540.2:c.137T>C NP_001099010.1:p.Leu46Pro NC_000011.10:46366392:T:C p.(Leu46Pro) NC_000011.10:46366392:T:C p.(Leu46Pro) NC_000011.10:46366392:T:C Identity +NM_000692.5:c.481A>G NP_000683.3:p.Ile161Val NC_000009.12:38396228:A:G p.(Ile161Val) NC_000009.12:38396228:A:G p.(Ile161Val) NC_000009.12:38396228:A:G Identity +NM_022571.6:c.62C>T NP_072093.2:p.Ser21Phe NC_000014.9:59465164:G:A p.(Ser21Phe) NC_000014.9:59465164:G:A p.(Ser21Phe) NC_000014.9:59465164:G:A Identity +NM_001009568.3:c.716C>T NP_001009568.1:p.Pro239Leu NC_000001.11:27955708:C:T p.(Pro239Leu) NC_000001.11:27955708:C:T p.(Pro239Leu) NC_000001.11:27955708:C:T Identity +NM_001841.3:c.64A>G NP_001832.1:p.Met22Val NC_000001.11:23875553:T:C p.(Met22Val) NC_000001.11:23875553:T:C p.(Met22Val) NC_000001.11:23875553:T:C Identity +NM_033260.4:c.64G>A NP_150285.3:p.Gly22Ser NC_000006.12:1312767:G:A p.(Gly22Ser) NC_000006.12:1312767:G:A p.(Gly22Ser) NC_000006.12:1312767:G:A Identity +NM_001289396.2:c.731C>T NP_001276325.1:p.Pro244Leu NC_000009.12:2039840:C:T p.(Pro244Leu) NC_000009.12:2039840:C:T p.(Pro244Leu) NC_000009.12:2039840:C:T Identity +NM_001112726.3:c.3866C>T NP_001106197.1:p.Ala1289Val NC_000014.9:104889745:C:T p.(Ala1289Val) NC_000014.9:104889745:C:T p.(Ala1289Val) NC_000014.9:104889745:C:T Identity +NM_001410699.1:c.109C>G NP_001397628.1:p.Arg37Gly NC_000004.12:1723529:C:G p.(Arg37Gly) NC_000004.12:1723529:C:G p.(Arg37Gly) NC_000004.12:1723529:C:G Identity +NM_002147.4:c.242A>G NP_002138.1:p.Gln81Arg NC_000017.11:48593440:T:C p.(Gln81Arg) NC_000017.11:48593440:T:C p.(Gln81Arg) NC_000017.11:48593440:T:C Identity +NM_014955.3:c.273G>T NP_055770.1:p.Glu91Asp NC_000001.11:171784116:G:T p.(Glu91Asp) NC_000001.11:171784116:G:T p.(Glu91Asp) NC_000001.11:171784116:G:T Identity +NM_019096.5:c.67G>C NP_061969.3:p.Gly23Arg NC_000006.12:43629095:C:G p.(Gly23Arg) NC_000006.12:43629095:C:G p.(Gly23Arg) NC_000006.12:43629095:C:G Identity +NM_001289861.2:c.2849A>T NP_001276790.1:p.Asp950Val NC_000001.11:7827777:A:T p.(Asp950Val) NC_000001.11:7827777:A:T p.(Asp950Val) NC_000001.11:7827777:A:T Identity +NM_020759.3:c.1628G>A NP_065810.2:p.Arg543His NC_000015.10:42674904:G:A p.(Arg543His) NC_000015.10:42674904:G:A p.(Arg543His) NC_000015.10:42674904:G:A Identity +NM_001142645.2:c.321C>G NP_001136117.1:p.Asn107Lys NC_000002.12:190519075:G:C p.(Asn107Lys) NC_000002.12:190519075:G:C p.(Asn107Lys) NC_000002.12:190519075:G:C Identity +NM_014718.4:c.633G>C NP_055533.2:p.Glu211Asp NC_000012.12:7135843:G:C p.(Glu211Asp) NC_000012.12:7135843:G:C p.(Glu211Asp) NC_000012.12:7135843:G:C Identity +NM_001105513.3:c.481G>A NP_001098983.2:p.Val161Met NC_000003.12:39114629:G:A p.(Val161Met) NC_000003.12:39114629:G:A p.(Val161Met) NC_000003.12:39114629:G:A Identity +NM_001128833.2:c.2650C>T NP_001122305.1:p.Arg884Trp NC_000017.11:7462331:G:A p.(Arg884Trp) NC_000017.11:7462331:G:A p.(Arg884Trp) NC_000017.11:7462331:G:A Identity +NM_001039886.4:c.2525C>T NP_001034975.2:p.Thr842Ile NC_000019.10:52555440:C:T p.(Thr842Ile) NC_000019.10:52555440:C:T p.(Thr842Ile) NC_000019.10:52555440:C:T Identity +NM_001282957.2:c.373C>T NP_001269886.1:p.Arg125Cys NC_000009.12:132499448:C:T p.(Arg125Cys) NC_000009.12:132499448:C:T p.(Arg125Cys) NC_000009.12:132499448:C:T Identity +NM_000691.5:c.5G>A NP_000682.3:p.Ser2Asn NC_000017.11:19745124:C:T p.(Ser2Asn) NC_000017.11:19745124:C:T p.(Ser2Asn) NC_000017.11:19745124:C:T Identity +NM_012142.5:c.371A>G NP_036274.3:p.Asp124Gly NC_000015.10:43190093:A:G p.(Asp124Gly) NC_000015.10:43190093:A:G p.(Asp124Gly) NC_000015.10:43190093:A:G Identity +NM_016441.3:c.1522C>T NP_057525.1:p.Arg508Cys NC_000002.12:36510002:C:T p.(Arg508Cys) NC_000002.12:36510002:C:T p.(Arg508Cys) NC_000002.12:36510002:C:T Identity +NM_138964.4:c.1112G>A NP_620414.1:p.Ser371Asn NC_000002.12:68655505:G:A p.(Ser371Asn) NC_000002.12:68655505:G:A p.(Ser371Asn) NC_000002.12:68655505:G:A Identity +NM_001368071.2:c.1399T>G NP_001355000.1:p.Ser467Ala NC_000015.10:34382018:A:C p.(Ser467Ala) NC_000015.10:34382018:A:C p.(Ser467Ala) NC_000015.10:34382018:A:C Identity +NM_005877.6:c.1652A>G NP_005868.1:p.Asn551Ser NC_000022.11:30338879:T:C p.(Asn551Ser) NC_000022.11:30338879:T:C p.(Asn551Ser) NC_000022.11:30338879:T:C Identity +NM_001291860.2:c.2012T>C NP_001278789.1:p.Val671Ala NC_000001.11:21880548:A:G p.(Val671Ala) NC_000001.11:21880548:A:G p.(Val671Ala) NC_000001.11:21880548:A:G Identity +NM_001324159.2:c.352G>A NP_001311088.1:p.Ala118Thr NC_000016.10:67990903:C:T p.(Ala118Thr) NC_000016.10:67990903:C:T p.(Ala118Thr) NC_000016.10:67990903:C:T Identity +NM_002016.2:c.9152G>A NP_002007.1:p.Arg3051Gln NC_000001.11:152305733:C:T p.(Arg3051Gln) NC_000001.11:152305733:C:T p.(Arg3051Gln) NC_000001.11:152305733:C:T Identity +NM_145080.4:c.28G>A NP_659547.2:p.Val10Ile NC_000016.10:27257542:C:T p.(Val10Ile) NC_000016.10:27257542:C:T p.(Val10Ile) NC_000016.10:27257542:C:T Identity +NM_001303457.2:c.1131C>G NP_001290386.1:p.Ser377Arg NC_000020.11:38012685:G:C p.(Ser377Arg) NC_000020.11:38012685:G:C p.(Ser377Arg) NC_000020.11:38012685:G:C Identity +NM_006813.3:c.62T>C NP_006804.1:p.Leu21Pro NC_000006.12:89080955:T:C p.(Leu21Pro) NC_000006.12:89080955:T:C p.(Leu21Pro) NC_000006.12:89080955:T:C Identity +NM_001308231.2:c.178C>T NP_001295160.1:p.Pro60Ser NC_000018.10:24155972:C:T p.(Pro60Ser) NC_000018.10:24155972:C:T p.(Pro60Ser) NC_000018.10:24155972:C:T Identity +NM_005130.5:c.211G>T NP_005121.1:p.Ala71Ser NC_000004.12:15936421:C:A p.(Ala71Ser) NC_000004.12:15936421:C:A p.(Ala71Ser) NC_000004.12:15936421:C:A Identity +NM_001367868.2:c.3623A>G NP_001354797.1:p.Glu1208Gly NC_000019.10:4508846:T:C p.(Glu1208Gly) NC_000019.10:4508846:T:C p.(Glu1208Gly) NC_000019.10:4508846:T:C Identity +NM_033400.3:c.5509G>A NP_207646.2:p.Gly1837Ser NC_000014.9:23524432:C:T p.(Gly1837Ser) NC_000014.9:23524432:C:T p.(Gly1837Ser) NC_000014.9:23524432:C:T Identity +NM_001145313.3:c.71C>G NP_001138785.1:p.Ser24Cys NC_000009.12:105461574:C:G p.(Ser24Cys) NC_000009.12:105461574:C:G p.(Ser24Cys) NC_000009.12:105461574:C:G Identity +NM_021978.4:c.1204G>A NP_068813.1:p.Val402Met NC_000011.10:130196428:G:A p.(Val402Met) NC_000011.10:130196428:G:A p.(Val402Met) NC_000011.10:130196428:G:A Identity +NM_015421.4:c.398T>G NP_056236.2:p.Leu133Arg NC_000016.10:8796195:A:C p.(Leu133Arg) NC_000016.10:8796195:A:C p.(Leu133Arg) NC_000016.10:8796195:A:C Identity +NM_080603.5:c.1040C>T NP_542170.3:p.Ala347Val NC_000020.11:45883631:C:T p.(Ala347Val) NC_000020.11:45883631:C:T p.(Ala347Val) NC_000020.11:45883631:C:T Identity +NM_001416100.1:c.253G>A NP_001403029.1:p.Gly85Ser NC_000019.10:42410707:C:T p.(Gly85Ser) NC_000019.10:42410707:C:T p.(Gly85Ser) NC_000019.10:42410707:C:T Identity +NM_002533.4:c.380A>G NP_002524.2:p.Tyr127Cys NC_000001.11:224308225:T:C p.(Tyr127Cys) NC_000001.11:224308225:T:C p.(Tyr127Cys) NC_000001.11:224308225:T:C Identity +NM_002976.4:c.828T>G NP_002967.2:p.Asn276Lys NC_000002.12:166465823:A:C p.(Asn276Lys) NC_000002.12:166465823:A:C p.(Asn276Lys) NC_000002.12:166465823:A:C Identity +NM_024523.6:c.200T>A NP_078799.2:p.Val67Glu NC_000007.14:127584982:A:T p.(Val67Glu) NC_000007.14:127584982:A:T p.(Val67Glu) NC_000007.14:127584982:A:T Identity +NM_001282415.2:c.924C>A NP_001269344.1:p.Asn308Lys NC_000016.10:3089327:G:T p.(Asn308Lys) NC_000016.10:3089327:G:T p.(Asn308Lys) NC_000016.10:3089327:G:T Identity +NM_001142593.3:c.1087G>A NP_001136065.1:p.Gly363Ser NC_000014.9:92941718:C:T p.(Gly363Ser) NC_000014.9:92941718:C:T p.(Gly363Ser) NC_000014.9:92941718:C:T Identity +NM_001185024.2:c.677G>A NP_001171953.1:p.Arg226His NC_000022.11:20140632:G:A p.(Arg226His) NC_000022.11:20140632:G:A p.(Arg226His) NC_000022.11:20140632:G:A Identity +NM_001272049.2:c.910C>T NP_001258978.1:p.Arg304Trp NC_000016.10:3672795:G:A p.(Arg304Trp) NC_000016.10:3672795:G:A p.(Arg304Trp) NC_000016.10:3672795:G:A Identity +NM_001199699.2:c.1044G>T NP_001186628.1:p.Glu348Asp NC_000017.11:5450367:C:A p.(Glu348Asp) NC_000017.11:5450367:C:A p.(Glu348Asp) NC_000017.11:5450367:C:A Identity +NM_001376472.1:c.952C>T NP_001363401.1:p.Leu318Phe NC_000022.11:50064140:G:A p.(Leu318Phe) NC_000022.11:50064140:G:A p.(Leu318Phe) NC_000022.11:50064140:G:A Identity +NM_152775.4:c.332G>A NP_689988.1:p.Arg111His NC_000004.12:185461064:C:T p.(Arg111His) NC_000004.12:185461064:C:T p.(Arg111His) NC_000004.12:185461064:C:T Identity +NM_014344.4:c.811G>A NP_055159.2:p.Ala271Thr NC_000011.10:35619446:G:A p.(Ala271Thr) NC_000011.10:35619446:G:A p.(Ala271Thr) NC_000011.10:35619446:G:A Identity +NM_052897.4:c.1193C>G NP_443129.3:p.Pro398Arg NC_000012.12:57526160:C:G p.(Pro398Arg) NC_000012.12:57526160:C:G p.(Pro398Arg) NC_000012.12:57526160:C:G Identity +NM_001130848.2:c.161G>A NP_001124320.1:p.Gly54Asp NC_000011.10:67502635:C:T p.(Gly54Asp) NC_000011.10:67502635:C:T p.(Gly54Asp) NC_000011.10:67502635:C:T Identity +NM_001040274.3:c.1924A>G NP_001035364.2:p.Lys642Glu NC_000006.12:10942715:A:G p.(Lys642Glu) NC_000006.12:10942715:A:G p.(Lys642Glu) NC_000006.12:10942715:A:G Identity +NM_000686.5:c.550G>A NP_000677.2:p.Val184Ile NC_000023.11:116172829:G:A p.(Val184Ile) NC_000023.11:116172829:G:A p.(Val184Ile) NC_000023.11:116172829:G:A Identity +NM_014429.4:c.2348A>G NP_055244.3:p.Asp783Gly NC_000003.12:108979643:T:C p.(Asp783Gly) NC_000003.12:108979643:T:C p.(Asp783Gly) NC_000003.12:108979643:T:C Identity +NM_001193369.2:c.284A>C NP_001180298.1:p.Asp95Ala NC_000020.11:62911328:T:G p.(Asp95Ala) NC_000020.11:62911328:T:G p.(Asp95Ala) NC_000020.11:62911328:T:G Identity +NM_153366.4:c.7208C>A NP_699197.3:p.Thr2403Asn NC_000009.12:110408391:G:T p.(Thr2403Asn) NC_000009.12:110408391:G:T p.(Thr2403Asn) NC_000009.12:110408391:G:T Identity +NM_018911.3:c.2075C>A NP_061734.1:p.Ala692Glu NC_000005.10:140843395:C:A p.(Ala692Glu) NC_000005.10:140843395:C:A p.(Ala692Glu) NC_000005.10:140843395:C:A Identity +NM_003378.4:c.1004A>T NP_003369.2:p.Tyr335Phe NC_000007.14:101163839:T:A p.(Tyr335Phe) NC_000007.14:101163839:T:A p.(Tyr335Phe) NC_000007.14:101163839:T:A Identity +NM_001172713.3:c.4150C>T NP_001166184.1:p.Leu1384Phe NC_000003.12:37325969:C:T p.(Leu1384Phe) NC_000003.12:37325969:C:T p.(Leu1384Phe) NC_000003.12:37325969:C:T Identity +NM_001004023.3:c.1541A>G NP_001004023.1:p.Asp514Gly NC_000001.11:206648798:A:G p.(Asp514Gly) NC_000001.11:206648798:A:G p.(Asp514Gly) NC_000001.11:206648798:A:G Identity +NM_001098623.2:c.3896G>C NP_001092093.2:p.Ser1299Thr NC_000001.11:228246665:G:C p.(Ser1299Thr) NC_000001.11:228246665:G:C p.(Ser1299Thr) NC_000001.11:228246665:G:C Identity +NM_001077663.3:c.1277G>A NP_001071131.1:p.Ser426Asn NC_000007.14:43878185:C:T p.(Ser426Asn) NC_000007.14:43878185:C:T p.(Ser426Asn) NC_000007.14:43878185:C:T Identity +NM_001414303.1:c.35T>A NP_001401232.1:p.Leu12Gln NC_000012.12:6384392:T:A p.(Leu12Gln) NC_000012.12:6384392:T:A p.(Leu12Gln) NC_000012.12:6384392:T:A Identity +NM_001345850.1:c.521A>T NP_001332779.1:p.Gln174Leu NC_000007.14:135080239:A:T p.(Gln174Leu) NC_000007.14:135080239:A:T p.(Gln174Leu) NC_000007.14:135080239:A:T Identity +NM_001172648.4:c.862G>A NP_001166119.1:p.Ala288Thr NC_000001.11:151706346:C:T p.(Ala288Thr) NC_000001.11:151706346:C:T p.(Ala288Thr) NC_000001.11:151706346:C:T Identity +NM_014972.3:c.122G>A NP_055787.1:p.Arg41Gln NC_000016.10:89873788:G:A p.(Arg41Gln) NC_000016.10:89873788:G:A p.(Arg41Gln) NC_000016.10:89873788:G:A Identity +NM_001080412.3:c.1108C>A NP_001073881.2:p.Pro370Thr NC_000003.12:141443495:C:A p.(Pro370Thr) NC_000003.12:141443495:C:A p.(Pro370Thr) NC_000003.12:141443495:C:A Identity +NM_001144958.2:c.1406G>A NP_001138430.1:p.Arg469His NC_000012.12:3638319:C:T p.(Arg469His) NC_000012.12:3638319:C:T p.(Arg469His) NC_000012.12:3638319:C:T Identity +NM_001128608.2:c.2544C>G NP_001122080.1:p.Asn848Lys NC_000015.10:41820875:C:G p.(Asn848Lys) NC_000015.10:41820875:C:G p.(Asn848Lys) NC_000015.10:41820875:C:G Identity +NM_001039362.2:c.1103C>T NP_001034451.1:p.Pro368Leu NC_000002.12:10782283:C:T p.(Pro368Leu) NC_000002.12:10782283:C:T p.(Pro368Leu) NC_000002.12:10782283:C:T Identity +NM_001282962.2:c.11C>T NP_001269891.1:p.Thr4Met NC_000002.12:233854489:G:A p.(Thr4Met) NC_000002.12:233854489:G:A p.(Thr4Met) NC_000002.12:233854489:G:A Identity +NM_001093.4:c.4607C>T NP_001084.3:p.Thr1536Met NC_000012.12:109237324:C:T p.(Thr1536Met) NC_000012.12:109237324:C:T p.(Thr1536Met) NC_000012.12:109237324:C:T Identity +LRG_1115t1:c.698C>T LRG_1115p1:p.Pro233Leu NC_000016.10:16208823:G:A ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found ERR:AlignmentMapper(tx_ac=LRG_1115t1, alt_ac=LRG_1115t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1115t1, alt_ac=LRG_1115t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1115t1 not found +NM_005847.5:c.493G>A NP_005838.3:p.Val165Met NC_000005.10:139380361:C:T p.(Val165Met) NC_000005.10:139380361:C:T p.(Val165Met) NC_000005.10:139380361:C:T Identity +NM_001409.4:c.2380C>T NP_001400.3:p.Arg794Cys NC_000001.11:3501242:G:A p.(Arg794Cys) NC_000001.11:3501242:G:A p.(Arg794Cys) NC_000001.11:3501242:G:A Identity +NM_032108.4:c.1670C>T NP_115484.2:p.Pro557Leu NC_000019.10:4546400:G:A p.(Pro557Leu) NC_000019.10:4546400:G:A p.(Pro557Leu) NC_000019.10:4546400:G:A Identity +NM_032826.5:c.622G>A NP_116215.1:p.Val208Ile NC_000007.14:134299573:C:T p.(Val208Ile) NC_000007.14:134299573:C:T p.(Val208Ile) NC_000007.14:134299573:C:T Identity +NM_018292.5:c.880G>C NP_060762.3:p.Val294Leu NC_000006.12:106654759:G:C p.(Val294Leu) NC_000006.12:106654759:G:C p.(Val294Leu) NC_000006.12:106654759:G:C Identity +NM_001289403.2:c.1193A>G NP_001276332.1:p.Lys398Arg NC_000010.11:97466876:T:C p.(Lys398Arg) NC_000010.11:97466876:T:C p.(Lys398Arg) NC_000010.11:97466876:T:C Identity +NM_033395.2:c.1352C>G NP_203753.1:p.Thr451Arg NC_000011.10:93691697:C:G p.(Thr451Arg) NC_000011.10:93691697:C:G p.(Thr451Arg) NC_000011.10:93691697:C:G Identity +NM_003292.3:c.3048A>C NP_003283.2:p.Gln1016His NC_000001.11:186346182:T:G p.(Gln1016His) NC_000001.11:186346182:T:G p.(Gln1016His) NC_000001.11:186346182:T:G Identity +NM_001301036.2:c.356G>T NP_001287965.1:p.Arg119Met NC_000012.12:94582167:C:A p.(Arg119Met) NC_000012.12:94582167:C:A p.(Arg119Met) NC_000012.12:94582167:C:A Identity +NM_001146029.3:c.1340G>A NP_001139501.1:p.Arg447His NC_000015.10:74411924:C:T p.(Arg447His) NC_000015.10:74411924:C:T p.(Arg447His) NC_000015.10:74411924:C:T Identity +NM_001128916.2:c.607G>A NP_001122388.1:p.Val203Ile NC_000019.10:44894029:G:A p.(Val203Ile) NC_000019.10:44894029:G:A p.(Val203Ile) NC_000019.10:44894029:G:A Identity +NM_001005324.1:c.569G>T NP_001005324.1:p.Cys190Phe NC_000011.10:59713276:C:A p.(Cys190Phe) NC_000011.10:59713276:C:A p.(Cys190Phe) NC_000011.10:59713276:C:A Identity +NM_001819.3:c.833G>A NP_001810.2:p.Arg278His NC_000020.11:5922976:G:A p.(Arg278His) NC_000020.11:5922976:G:A p.(Arg278His) NC_000020.11:5922976:G:A Identity +NM_001031739.3:c.739C>A NP_001026909.1:p.Gln247Lys NC_000023.11:15248764:G:T p.(Gln247Lys) NC_000023.11:15248764:G:T p.(Gln247Lys) NC_000023.11:15248764:G:T Identity +NM_001010938.2:c.1486C>T NP_001010938.2:p.Pro496Ser NC_000003.12:195872312:G:A p.(Pro496Ser) NC_000003.12:195872312:G:A p.(Pro496Ser) NC_000003.12:195872312:G:A Identity +NM_153007.5:c.431G>A NP_694552.2:p.Cys144Tyr NC_000017.11:8340481:G:A p.(Cys144Tyr) NC_000017.11:8340481:G:A p.(Cys144Tyr) NC_000017.11:8340481:G:A Identity +NM_001308207.1:c.1475G>A NP_001295136.1:p.Arg492His NC_000008.11:144547610:C:T p.(Arg492His) NC_000008.11:144547610:C:T p.(Arg492His) NC_000008.11:144547610:C:T Identity +NM_001142391.3:c.22G>T NP_001135863.1:p.Gly8Cys NC_000023.11:154488918:C:A p.(Gly8Cys) NC_000023.11:154488918:C:A p.(Gly8Cys) NC_000023.11:154488918:C:A Identity +NM_001103184.4:c.2266A>G NP_001096654.1:p.Ser756Gly NC_000015.10:32968765:T:C p.(Ser756Gly) NC_000015.10:32968765:T:C p.(Ser756Gly) NC_000015.10:32968765:T:C Identity +NM_001145113.3:c.631G>A NP_001138585.2:p.Val211Met NC_000017.11:81941110:C:T p.(Val211Met) NC_000017.11:81941110:C:T p.(Val211Met) NC_000017.11:81941110:C:T Identity +NM_001323625.2:c.301A>C NP_001310554.1:p.Lys101Gln NC_000001.11:147659693:T:G p.(Lys101Gln) NC_000001.11:147659693:T:G p.(Lys101Gln) NC_000001.11:147659693:T:G Identity +NM_000617.3:c.1010C>G NP_000608.1:p.Thr337Ser NC_000012.12:50994610:G:C p.(Thr337Ser) NC_000012.12:50994610:G:C p.(Thr337Ser) NC_000012.12:50994610:G:C Identity +NM_001320747.2:c.4099C>T NP_001307676.1:p.Arg1367Trp NC_000017.11:76009171:G:A p.(Arg1367Trp) NC_000017.11:76009171:G:A p.(Arg1367Trp) NC_000017.11:76009171:G:A Identity +NM_001042576.2:c.1624G>A NP_001036041.2:p.Val542Ile NC_000020.11:17627508:C:T p.(Val542Ile) NC_000020.11:17627508:C:T p.(Val542Ile) NC_000020.11:17627508:C:T Identity +NM_001173431.2:c.4492A>G NP_001166902.1:p.Met1498Val NC_000002.12:219556136:T:C p.(Met1498Val) NC_000002.12:219556136:T:C p.(Met1498Val) NC_000002.12:219556136:T:C Identity +NM_174924.2:c.37G>A NP_777584.1:p.Ala13Thr NC_000016.10:20399263:C:T p.(Ala13Thr) NC_000016.10:20399263:C:T p.(Ala13Thr) NC_000016.10:20399263:C:T Identity +NM_178561.5:c.1610T>C NP_848656.2:p.Leu537Pro NC_000007.14:143756048:A:G p.(Leu537Pro) NC_000007.14:143756048:A:G p.(Leu537Pro) NC_000007.14:143756048:A:G Identity +NM_004108.3:c.266A>G NP_004099.2:p.Asn89Ser NC_000009.12:134883352:A:G p.(Asn89Ser) NC_000009.12:134883352:A:G p.(Asn89Ser) NC_000009.12:134883352:A:G Identity +NM_015353.3:c.92C>T NP_056168.1:p.Pro31Leu NC_000017.11:75047341:C:T p.(Pro31Leu) NC_000017.11:75047341:C:T p.(Pro31Leu) NC_000017.11:75047341:C:T Identity +NM_018897.3:c.6859G>A NP_061720.2:p.Ala2287Thr NC_000002.12:195864795:C:T p.(Ala2287Thr) NC_000002.12:195864795:C:T p.(Ala2287Thr) NC_000002.12:195864795:C:T Identity +NM_032940.3:c.695A>G NP_116558.1:p.Asn232Ser NC_000016.10:57470985:A:G p.(Asn232Ser) NC_000016.10:57470985:A:G p.(Asn232Ser) NC_000016.10:57470985:A:G Identity +NM_001286259.2:c.81G>C NP_001273188.1:p.Met27Ile NC_000006.12:143433960:C:G p.(Met27Ile) NC_000006.12:143433960:C:G p.(Met27Ile) NC_000006.12:143433960:C:G Identity +NM_182542.3:c.1457A>G NP_872348.2:p.Tyr486Cys NC_000013.11:45550266:T:C p.(Tyr486Cys) NC_000013.11:45550266:T:C p.(Tyr486Cys) NC_000013.11:45550266:T:C Identity +NM_001242336.2:c.205G>A NP_001229265.1:p.Val69Ile NC_000005.10:154049926:G:A p.(Val69Ile) NC_000005.10:154049926:G:A p.(Val69Ile) NC_000005.10:154049926:G:A Identity +NM_001131062.2:c.36A>C NP_001124534.1:p.Glu12Asp NC_000005.10:154446639:A:C p.(Glu12Asp) NC_000005.10:154446639:A:C p.(Glu12Asp) NC_000005.10:154446639:A:C Identity +NM_001047.4:c.155C>T NP_001038.1:p.Ala52Val NC_000005.10:6633730:C:T p.(Ala52Val) NC_000005.10:6633730:C:T p.(Ala52Val) NC_000005.10:6633730:C:T Identity +NM_003884.5:c.1349C>T NP_003875.3:p.Pro450Leu NC_000003.12:20122739:C:T p.(Pro450Leu) NC_000003.12:20122739:C:T p.(Pro450Leu) NC_000003.12:20122739:C:T Identity +NM_000296.4:c.8942C>A NP_000287.4:p.Ser2981Tyr NC_000016.10:2102819:G:T p.(Ser2981Tyr) NC_000016.10:2102819:G:T p.(Ser2981Tyr) NC_000016.10:2102819:G:T Identity +NM_020882.4:c.1033G>A NP_065933.2:p.Gly345Ser NC_000020.11:63309424:G:A p.(Gly345Ser) NC_000020.11:63309424:G:A p.(Gly345Ser) NC_000020.11:63309424:G:A Identity +NM_001185024.2:c.1120G>A NP_001171953.1:p.Glu374Lys NC_000022.11:20141524:G:A p.(Glu374Lys) NC_000022.11:20141524:G:A p.(Glu374Lys) NC_000022.11:20141524:G:A Identity +NM_001411089.1:c.8588G>A NP_001398018.1:p.Arg2863Gln NC_000015.10:43529346:G:A p.(Arg2863Gln) NC_000015.10:43529346:G:A p.(Arg2863Gln) NC_000015.10:43529346:G:A Identity +NM_018901.4:c.913G>C NP_061724.1:p.Asp305His NC_000005.10:140856960:G:C p.(Asp305His) NC_000005.10:140856960:G:C p.(Asp305His) NC_000005.10:140856960:G:C Identity +NM_001142641.2:c.458C>T NP_001136113.1:p.Ala153Val NC_000012.12:132508318:C:T p.(Ala153Val) NC_000012.12:132508318:C:T p.(Ala153Val) NC_000012.12:132508318:C:T Identity +NM_001389527.1:c.961A>T NP_001376456.1:p.Ser321Cys NC_000006.12:132588725:T:A p.(Ser321Cys) NC_000006.12:132588725:T:A p.(Ser321Cys) NC_000006.12:132588725:T:A Identity +NM_000189.5:c.1219C>T NP_000180.2:p.Arg407Cys NC_000002.12:74878874:C:T p.(Arg407Cys) NC_000002.12:74878874:C:T p.(Arg407Cys) NC_000002.12:74878874:C:T Identity +NM_001145451.5:c.1354C>T NP_001138923.2:p.Arg452Trp NC_000002.12:38957030:C:T p.(Arg452Trp) NC_000002.12:38957030:C:T p.(Arg452Trp) NC_000002.12:38957030:C:T Identity +NM_001039613.3:c.725T>C NP_001034702.1:p.Leu242Pro NC_000002.12:9488306:T:C p.(Leu242Pro) NC_000002.12:9488306:T:C p.(Leu242Pro) NC_000002.12:9488306:T:C Identity +NM_001353457.2:c.1891A>G NP_001340386.1:p.Lys631Glu NC_000019.10:53164592:T:C p.(Lys631Glu) NC_000019.10:53164592:T:C p.(Lys631Glu) NC_000019.10:53164592:T:C Identity +NM_001006615.3:c.557A>G NP_001006616.1:p.Gln186Arg NC_000009.12:113318485:T:C p.(Gln186Arg) NC_000009.12:113318485:T:C p.(Gln186Arg) NC_000009.12:113318485:T:C Identity +NM_000242.3:c.727G>A NP_000233.1:p.Val243Ile NC_000010.11:52768156:C:T p.(Val243Ile) NC_000010.11:52768156:C:T p.(Val243Ile) NC_000010.11:52768156:C:T Identity +NM_001007471.4:c.4340C>A NP_001007472.2:p.Thr1447Lys NC_000009.12:70536736:G:T p.(Thr1447Lys) NC_000009.12:70536736:G:T p.(Thr1447Lys) NC_000009.12:70536736:G:T Identity +NM_001260489.2:c.1277T>C NP_001247418.2:p.Val426Ala NC_000019.10:35267300:T:C p.(Val426Ala) NC_000019.10:35267300:T:C p.(Val426Ala) NC_000019.10:35267300:T:C Identity +NM_001098491.2:c.883A>G NP_001091961.1:p.Lys295Glu NC_000019.10:57493436:A:G p.(Lys295Glu) NC_000019.10:57493436:A:G p.(Lys295Glu) NC_000019.10:57493436:A:G Identity +NM_001318046.2:c.157A>G NP_001304975.1:p.Arg53Gly NC_000007.14:108116038:T:C p.(Arg53Gly) NC_000007.14:108116038:T:C p.(Arg53Gly) NC_000007.14:108116038:T:C Identity +NM_015042.2:c.3154A>G NP_055857.1:p.Lys1052Glu NC_000015.10:64676007:A:G p.(Lys1052Glu) NC_000015.10:64676007:A:G p.(Lys1052Glu) NC_000015.10:64676007:A:G Identity +NM_001177599.2:c.640G>A NP_001171070.1:p.Val214Ile NC_000003.12:67518266:C:T p.(Val214Ile) NC_000003.12:67518266:C:T p.(Val214Ile) NC_000003.12:67518266:C:T Identity +NM_012324.6:c.370C>T NP_036456.1:p.Leu124Phe NC_000022.11:50603420:C:T p.(Leu124Phe) NC_000022.11:50603420:C:T p.(Leu124Phe) NC_000022.11:50603420:C:T Identity +NM_145292.4:c.706T>C NP_660335.2:p.Trp236Arg NC_000007.14:152002760:T:C p.(Trp236Arg) NC_000007.14:152002760:T:C p.(Trp236Arg) NC_000007.14:152002760:T:C Identity +NM_021214.2:c.179C>T NP_067037.1:p.Ala60Val NC_000015.10:80695607:C:T p.(Ala60Val) NC_000015.10:80695607:C:T p.(Ala60Val) NC_000015.10:80695607:C:T Identity +NM_001286527.3:c.1745T>C NP_001273456.2:p.Val582Ala NC_000016.10:84452004:T:C p.(Val582Ala) NC_000016.10:84452004:T:C p.(Val582Ala) NC_000016.10:84452004:T:C Identity +NM_001130413.4:c.445G>T NP_001123885.2:p.Gly149Trp NC_000001.11:1284070:G:T p.(Gly149Trp) NC_000001.11:1284070:G:T p.(Gly149Trp) NC_000001.11:1284070:G:T Identity +NM_002016.2:c.11259G>T NP_002007.1:p.Glu3753Asp NC_000001.11:152303626:C:A p.(Glu3753Asp) NC_000001.11:152303626:C:A p.(Glu3753Asp) NC_000001.11:152303626:C:A Identity +NM_002016.2:c.7131C>G NP_002007.1:p.Asp2377Glu NC_000001.11:152307754:G:C p.(Asp2377Glu) NC_000001.11:152307754:G:C p.(Asp2377Glu) NC_000001.11:152307754:G:C Identity +NM_001347886.2:c.9427G>T NP_001334815.1:p.Val3143Phe NC_000016.10:20964318:C:A p.(Val3143Phe) NC_000016.10:20964318:C:A p.(Val3143Phe) NC_000016.10:20964318:C:A Identity +NM_001368073.2:c.1228A>G NP_001355002.1:p.Ser410Gly NC_000015.10:56096208:T:C p.(Ser410Gly) NC_000015.10:56096208:T:C p.(Ser410Gly) NC_000015.10:56096208:T:C Identity +NM_001280542.3:c.426A>G NP_001267471.1:p.Ile142Met NC_000014.9:72731809:T:C p.(Ile142Met) NC_000014.9:72731809:T:C p.(Ile142Met) NC_000014.9:72731809:T:C Identity +NM_001253387.2:c.2521C>T NP_001240316.1:p.Arg841Cys NC_000003.12:390798:C:T p.(Arg841Cys) NC_000003.12:390798:C:T p.(Arg841Cys) NC_000003.12:390798:C:T Identity +NM_001317748.2:c.1811G>A NP_001304677.1:p.Arg604Gln NC_000008.11:98021318:G:A p.(Arg604Gln) NC_000008.11:98021318:G:A p.(Arg604Gln) NC_000008.11:98021318:G:A Identity +NM_014811.5:c.1376C>T NP_055626.3:p.Ala459Val NC_000009.12:135485885:C:T p.(Ala459Val) NC_000009.12:135485885:C:T p.(Ala459Val) NC_000009.12:135485885:C:T Identity +NM_020158.4:c.311C>T NP_064543.3:p.Ala104Val NC_000019.10:41391913:G:A p.(Ala104Val) NC_000019.10:41391913:G:A p.(Ala104Val) NC_000019.10:41391913:G:A Identity +NM_001171968.3:c.2330G>A NP_001165439.2:p.Arg777Gln NC_000011.10:617540:C:T p.(Arg777Gln) NC_000011.10:617540:C:T p.(Arg777Gln) NC_000011.10:617540:C:T Identity +NM_001143687.2:c.1538C>T NP_001137159.1:p.Pro513Leu NC_000001.11:155047786:C:T p.(Pro513Leu) NC_000001.11:155047786:C:T p.(Pro513Leu) NC_000001.11:155047786:C:T Identity +NM_033051.4:c.250G>A NP_149040.3:p.Val84Met NC_000009.12:112890431:C:T p.(Val84Met) NC_000009.12:112890431:C:T p.(Val84Met) NC_000009.12:112890431:C:T Identity +NM_005027.4:c.2099del NP_005018.2:p.Ser700fs NC_000019.10:18169205:C: p.(Ser700CysfsTer174) NC_000019.10:18169205:C: p.(Ser700CysfsTer174) NC_000019.10:18169205:C: Analogous +NM_138435.4:c.904C>T NP_612444.2:p.Arg302Trp NC_000022.11:40021413:C:T p.(Arg302Trp) NC_000022.11:40021413:C:T p.(Arg302Trp) NC_000022.11:40021413:C:T Identity +NM_001385065.1:c.172C>T NP_001371994.1:p.Pro58Ser NC_000014.9:102319936:C:T p.(Pro58Ser) NC_000014.9:102319936:C:T p.(Pro58Ser) NC_000014.9:102319936:C:T Identity +NM_001145143.1:c.959C>T NP_001138615.1:p.Pro320Leu NC_000003.12:184038597:C:T p.(Pro320Leu) NC_000003.12:184038597:C:T p.(Pro320Leu) NC_000003.12:184038597:C:T Identity +NM_031439.4:c.316A>G NP_113627.1:p.Met106Val NC_000008.11:10726588:T:C p.(Met106Val) NC_000008.11:10726588:T:C p.(Met106Val) NC_000008.11:10726588:T:C Identity +NM_001083124.1:c.3179G>T NP_001076593.1:p.Ser1060Ile NC_000009.12:66987318:C:A p.(Ser1060Ile) NC_000009.12:66987318:C:A p.(Ser1060Ile) NC_000009.12:66987318:C:A Identity +NM_000275.3:c.1340T>C NP_000266.2:p.Leu447Pro NC_000015.10:27985087:A:G p.(Leu447Pro) NC_000015.10:27985087:A:G p.(Leu447Pro) NC_000015.10:27985087:A:G Identity +NM_001382342.1:c.186C>G NP_001369271.1:p.Asn62Lys NC_000019.10:17306285:C:G p.(Asn62Lys) NC_000019.10:17306285:C:G p.(Asn62Lys) NC_000019.10:17306285:C:G Identity +NM_001411127.1:c.1495C>T NP_001398056.1:p.Arg499Trp NC_000019.10:40397141:G:A p.(Arg499Trp) NC_000019.10:40397141:G:A p.(Arg499Trp) NC_000019.10:40397141:G:A Identity +NM_001349810.2:c.494C>T NP_001336739.1:p.Pro165Leu NC_000008.11:17064195:C:T p.(Pro165Leu) NC_000008.11:17064195:C:T p.(Pro165Leu) NC_000008.11:17064195:C:T Identity +NM_152667.3:c.532G>A NP_689880.1:p.Gly178Arg NC_000020.11:25616139:C:T p.(Gly178Arg) NC_000020.11:25616139:C:T p.(Gly178Arg) NC_000020.11:25616139:C:T Identity +NM_002516.4:c.716C>A NP_002507.1:p.Pro239Gln NC_000019.10:45940625:G:T p.(Pro239Gln) NC_000019.10:45940625:G:T p.(Pro239Gln) NC_000019.10:45940625:G:T Identity +NM_001005279.3:c.905T>C NP_001005279.1:p.Ile302Thr NC_000001.11:158699747:A:G p.(Ile302Thr) NC_000001.11:158699747:A:G p.(Ile302Thr) NC_000001.11:158699747:A:G Identity +NM_001134400.2:c.533T>C NP_001127872.1:p.Val178Ala NC_000001.11:109496035:T:C p.(Val178Ala) NC_000001.11:109496035:T:C p.(Val178Ala) NC_000001.11:109496035:T:C Identity +NM_001306173.2:c.1279C>T NP_001293102.1:p.Arg427Cys NC_000005.10:34998759:G:A p.(Arg427Cys) NC_000005.10:34998759:G:A p.(Arg427Cys) NC_000005.10:34998759:G:A Identity +NM_144617.3:c.364C>T NP_653218.1:p.Arg122Cys NC_000019.10:35755640:G:A p.(Arg122Cys) NC_000019.10:35755640:G:A p.(Arg122Cys) NC_000019.10:35755640:G:A Identity +NM_006219.3:c.595G>A NP_006210.1:p.Val199Ile NC_000003.12:138742583:C:T p.(Val199Ile) NC_000003.12:138742583:C:T p.(Val199Ile) NC_000003.12:138742583:C:T Identity +NM_001278683.1:c.862C>T NP_001265612.1:p.Arg288Trp NC_000003.12:134370745:G:A p.(Arg288Trp) NC_000003.12:134370745:G:A p.(Arg288Trp) NC_000003.12:134370745:G:A Identity +NM_004286.5:c.124T>G NP_004277.2:p.Phe42Val NC_000022.11:38706078:T:G p.(Phe42Val) NC_000022.11:38706078:T:G p.(Phe42Val) NC_000022.11:38706078:T:G Identity +NM_001166237.1:c.962G>A NP_001159709.1:p.Arg321Gln NC_000008.11:143562096:G:A p.(Arg321Gln) NC_000008.11:143562096:G:A p.(Arg321Gln) NC_000008.11:143562096:G:A Identity +NM_005271.5:c.125A>C NP_005262.1:p.Gln42Pro NC_000010.11:87094644:T:G p.(Gln42Pro) NC_000010.11:87094644:T:G p.(Gln42Pro) NC_000010.11:87094644:T:G Identity +NM_001144013.2:c.2235G>T NP_001137485.1:p.Glu745Asp NC_000002.12:106433255:C:A p.(Glu745Asp) NC_000002.12:106433255:C:A p.(Glu745Asp) NC_000002.12:106433255:C:A Identity +NM_016333.4:c.8200C>T NP_057417.3:p.Arg2734Cys NC_000016.10:2770667:C:T p.(Arg2734Cys) NC_000016.10:2770667:C:T p.(Arg2734Cys) NC_000016.10:2770667:C:T Identity +NM_001350727.2:c.292C>T NP_001337656.1:p.Leu98Phe NC_000004.12:176115963:C:T p.(Leu98Phe) NC_000004.12:176115963:C:T p.(Leu98Phe) NC_000004.12:176115963:C:T Identity +NM_001144989.2:c.2235A>C NP_001138461.1:p.Glu745Asp NC_000019.10:57873154:T:G p.(Glu745Asp) NC_000019.10:57873154:T:G p.(Glu745Asp) NC_000019.10:57873154:T:G Identity +NM_001244676.2:c.467C>T NP_001231605.1:p.Ala156Val NC_000002.12:88175296:C:T p.(Ala156Val) NC_000002.12:88175296:C:T p.(Ala156Val) NC_000002.12:88175296:C:T Identity +NM_001278231.2:c.1723A>T NP_001265160.1:p.Ile575Phe NC_000009.12:101409532:A:T p.(Ile575Phe) NC_000009.12:101409532:A:T p.(Ile575Phe) NC_000009.12:101409532:A:T Identity +NM_001017981.2:c.124G>C NP_001017981.1:p.Ala42Pro NC_000022.11:30387189:C:G p.(Ala42Pro) NC_000022.11:30387189:C:G p.(Ala42Pro) NC_000022.11:30387189:C:G Identity +NM_003281.4:c.143G>A NP_003272.3:p.Arg48His NC_000001.11:201414563:C:T p.(Arg48His) NC_000001.11:201414563:C:T p.(Arg48His) NC_000001.11:201414563:C:T Identity +NM_173653.4:c.491C>T NP_775924.1:p.Thr164Met NC_000003.12:143795042:G:A p.(Thr164Met) NC_000003.12:143795042:G:A p.(Thr164Met) NC_000003.12:143795042:G:A Identity +NM_152723.3:c.1043C>A NP_689936.1:p.Ser348Tyr NC_000011.10:85685087:G:T p.(Ser348Tyr) NC_000011.10:85685087:G:T p.(Ser348Tyr) NC_000011.10:85685087:G:T Identity +NM_001111018.2:c.1508C>T NP_001104488.1:p.Pro503Leu NC_000011.10:19933943:C:T p.(Pro503Leu) NC_000011.10:19933943:C:T p.(Pro503Leu) NC_000011.10:19933943:C:T Identity +NM_178499.5:c.1108A>G NP_848594.2:p.Thr370Ala NC_000012.12:119523696:A:G p.(Thr370Ala) NC_000012.12:119523696:A:G p.(Thr370Ala) NC_000012.12:119523696:A:G Identity +NM_173084.3:c.404A>C NP_775107.1:p.Gln135Pro NC_000003.12:160438779:T:G p.(Gln135Pro) NC_000003.12:160438779:T:G p.(Gln135Pro) NC_000003.12:160438779:T:G Identity +NM_001166663.2:c.550T>C NP_001160135.1:p.Tyr184His NC_000001.11:160841329:A:G p.(Tyr184His) NC_000001.11:160841329:A:G p.(Tyr184His) NC_000001.11:160841329:A:G Identity +NM_003049.4:c.523G>A NP_003040.1:p.Val175Ile NC_000014.9:69786140:C:T p.(Val175Ile) NC_000014.9:69786140:C:T p.(Val175Ile) NC_000014.9:69786140:C:T Identity +NM_001007525.5:c.1489G>A NP_001007526.3:p.Gly497Arg NC_000019.10:16750130:G:A p.(Gly497Arg) NC_000019.10:16750130:G:A p.(Gly497Arg) NC_000019.10:16750130:G:A Identity +NM_001135943.2:c.3635C>T NP_001129415.1:p.Ser1212Phe NC_000011.10:47309292:C:T p.(Ser1212Phe) NC_000011.10:47309292:C:T p.(Ser1212Phe) NC_000011.10:47309292:C:T Identity +NM_001365758.1:c.1030C>A NP_001352687.1:p.Arg344Ser NC_000017.11:56456886:C:A p.(Arg344Ser) NC_000017.11:56456886:C:A p.(Arg344Ser) NC_000017.11:56456886:C:A Identity +NM_001079692.3:c.524A>T NP_001073160.1:p.Asp175Val NC_000011.10:60415542:A:T p.(Asp175Val) NC_000011.10:60415542:A:T p.(Asp175Val) NC_000011.10:60415542:A:T Identity +NM_001414499.1:c.2134A>T NP_001401428.1:p.Asn712Tyr NC_000005.10:146263598:A:T p.(Asn712Tyr) NC_000005.10:146263598:A:T p.(Asn712Tyr) NC_000005.10:146263598:A:T Identity +NM_001286527.3:c.2789C>G NP_001273456.2:p.Thr930Arg NC_000016.10:84462108:C:G p.(Thr930Arg) NC_000016.10:84462108:C:G p.(Thr930Arg) NC_000016.10:84462108:C:G Identity +NM_177455.4:c.541C>A NP_803238.1:p.Gln181Lys NC_000007.14:98212849:C:A p.(Gln181Lys) NC_000007.14:98212849:C:A p.(Gln181Lys) NC_000007.14:98212849:C:A Identity +NM_004386.3:c.776G>T NP_004377.2:p.Gly259Val NC_000019.10:19224430:G:T p.(Gly259Val) NC_000019.10:19224430:G:T p.(Gly259Val) NC_000019.10:19224430:G:T Identity +NM_001199824.2:c.140G>A NP_001186753.1:p.Arg47Gln NC_000019.10:55544854:C:T p.(Arg47Gln) NC_000019.10:55544854:C:T p.(Arg47Gln) NC_000019.10:55544854:C:T Identity +NM_001164405.2:c.42G>T NP_001157877.1:p.Lys14Asn NC_000017.11:1270604:G:T p.(Lys14Asn) NC_000017.11:1270604:G:T p.(Lys14Asn) NC_000017.11:1270604:G:T Identity +NM_001301275.2:c.1184A>G NP_001288204.1:p.His395Arg NC_000009.12:94301314:A:G p.(His395Arg) NC_000009.12:94301314:A:G p.(His395Arg) NC_000009.12:94301314:A:G Identity +NM_001272075.2:c.577G>C NP_001259004.1:p.Val193Leu NC_000016.10:84745045:G:C p.(Val193Leu) NC_000016.10:84745045:G:C p.(Val193Leu) NC_000016.10:84745045:G:C Identity +NM_000573.4:c.2137G>C NP_000564.2:p.Glu713Gln NC_000001.11:207542480:G:C ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001297439.2:c.1660G>A NP_001284368.1:p.Val554Met NC_000004.12:3448129:G:A p.(Val554Met) NC_000004.12:3448129:G:A p.(Val554Met) NC_000004.12:3448129:G:A Identity +NM_003771.5:c.1299C>G NP_003762.1:p.Cys433Trp NC_000017.11:41486480:G:C p.(Cys433Trp) NC_000017.11:41486480:G:C p.(Cys433Trp) NC_000017.11:41486480:G:C Identity +NM_001024937.4:c.2237G>A NP_001020108.1:p.Arg746Gln NC_000017.11:4892753:G:A p.(Arg746Gln) NC_000017.11:4892753:G:A p.(Arg746Gln) NC_000017.11:4892753:G:A Identity +NM_001145113.3:c.508G>A NP_001138585.2:p.Val170Ile NC_000017.11:81941233:C:T p.(Val170Ile) NC_000017.11:81941233:C:T p.(Val170Ile) NC_000017.11:81941233:C:T Identity +NM_001163508.2:c.1202A>C NP_001156980.1:p.Gln401Pro NC_000014.9:72956425:A:C p.(Gln401Pro) NC_000014.9:72956425:A:C p.(Gln401Pro) NC_000014.9:72956425:A:C Identity +NM_001142864.4:c.2128G>A NP_001136336.2:p.Asp710Asn NC_000016.10:88734407:C:T p.(Asp710Asn) NC_000016.10:88734407:C:T p.(Asp710Asn) NC_000016.10:88734407:C:T Identity +NM_001144758.3:c.208G>C NP_001138230.1:p.Ala70Pro NC_000011.10:118616063:G:C p.(Ala70Pro) NC_000011.10:118616063:G:C p.(Ala70Pro) NC_000011.10:118616063:G:C Identity +NM_001015887.3:c.259C>T NP_001015887.1:p.Arg87Trp NC_000003.12:118928673:G:A p.(Arg87Trp) NC_000003.12:118928673:G:A p.(Arg87Trp) NC_000003.12:118928673:G:A Identity +NM_172365.3:c.1127C>T NP_758953.1:p.Thr376Met NC_000014.9:64589195:C:T p.(Thr376Met) NC_000014.9:64589195:C:T p.(Thr376Met) NC_000014.9:64589195:C:T Identity +NM_001321115.2:c.2836G>C NP_001308044.1:p.Glu946Gln NC_000010.11:32729387:G:C p.(Glu946Gln) NC_000010.11:32729387:G:C p.(Glu946Gln) NC_000010.11:32729387:G:C Identity +NM_001145018.3:c.82G>A NP_001138490.1:p.Glu28Lys NC_000011.10:119194976:C:T p.(Glu28Lys) NC_000011.10:119194976:C:T p.(Glu28Lys) NC_000011.10:119194976:C:T Identity +NM_004525.3:c.5878C>A NP_004516.2:p.Leu1960Ile NC_000002.12:169213818:G:T p.(Leu1960Ile) NC_000002.12:169213818:G:T p.(Leu1960Ile) NC_000002.12:169213818:G:T Identity +NM_005049.3:c.218T>C NP_005040.2:p.Val73Ala NC_000021.9:44113838:T:C p.(Val73Ala) NC_000021.9:44113838:T:C p.(Val73Ala) NC_000021.9:44113838:T:C Identity +NM_002275.4:c.122G>A NP_002266.3:p.Ser41Asn NC_000017.11:41518705:C:T p.(Ser41Asn) NC_000017.11:41518705:C:T p.(Ser41Asn) NC_000017.11:41518705:C:T Identity +NM_024674.6:c.566C>T NP_078950.1:p.Thr189Ile NC_000001.11:26426393:C:T p.(Thr189Ile) NC_000001.11:26426393:C:T p.(Thr189Ile) NC_000001.11:26426393:C:T Identity +NM_001320227.2:c.1117G>C NP_001307156.1:p.Asp373His NC_000003.12:161246434:G:C p.(Asp373His) NC_000003.12:161246434:G:C p.(Asp373His) NC_000003.12:161246434:G:C Identity +NM_001195833.2:c.409C>T NP_001182762.1:p.Leu137Phe NC_000019.10:38871688:G:A p.(Leu137Phe) NC_000019.10:38871688:G:A p.(Leu137Phe) NC_000019.10:38871688:G:A Identity +NM_018158.3:c.1937A>G NP_060628.3:p.Lys646Arg NC_000002.12:27685259:A:G p.(Lys646Arg) NC_000002.12:27685259:A:G p.(Lys646Arg) NC_000002.12:27685259:A:G Identity +NM_001076788.2:c.623C>T NP_001070256.1:p.Pro208Leu NC_000013.11:46010470:G:A p.(Pro208Leu) NC_000013.11:46010470:G:A p.(Pro208Leu) NC_000013.11:46010470:G:A Identity +NM_030615.4:c.1076G>A NP_085118.2:p.Arg359Gln NC_000006.12:168044916:G:A p.(Arg359Gln) NC_000006.12:168044916:G:A p.(Arg359Gln) NC_000006.12:168044916:G:A Identity +NM_001008781.3:c.8534C>G NP_001008781.2:p.Ala2845Gly NC_000011.10:92801546:C:G p.(Ala2845Gly) NC_000011.10:92801546:C:G p.(Ala2845Gly) NC_000011.10:92801546:C:G Identity +NM_001142293.2:c.1241C>T NP_001135765.1:p.Ser414Leu NC_000022.11:42807110:G:A p.(Ser414Leu) NC_000022.11:42807110:G:A p.(Ser414Leu) NC_000022.11:42807110:G:A Identity +NM_003458.4:c.8768T>C NP_003449.2:p.Leu2923Pro NC_000003.12:49660612:T:C p.(Leu2923Pro) NC_000003.12:49660612:T:C p.(Leu2923Pro) NC_000003.12:49660612:T:C Identity +NM_016262.5:c.192A>G NP_057346.1:p.Ile64Met NC_000006.12:112084206:T:C p.(Ile64Met) NC_000006.12:112084206:T:C p.(Ile64Met) NC_000006.12:112084206:T:C Identity +NM_001286449.2:c.129C>A NP_001273378.1:p.Asn43Lys NC_000015.10:56389358:C:A p.(Asn43Lys) NC_000015.10:56389358:C:A p.(Asn43Lys) NC_000015.10:56389358:C:A Identity +NM_033225.6:c.10581C>G NP_150094.5:p.Asn3527Lys NC_000008.11:2938698:G:C p.(Asn3527Lys) NC_000008.11:2938698:G:C p.(Asn3527Lys) NC_000008.11:2938698:G:C Identity +NM_001377418.1:c.4568C>T NP_001364347.1:p.Pro1523Leu NC_000001.11:156936868:G:A p.(Pro1523Leu) NC_000001.11:156936868:G:A p.(Pro1523Leu) NC_000001.11:156936868:G:A Identity +NM_018071.5:c.1664C>T NP_060541.3:p.Pro555Leu NC_000014.9:21075689:C:T p.(Pro555Leu) NC_000014.9:21075689:C:T p.(Pro555Leu) NC_000014.9:21075689:C:T Identity +NM_001312672.1:c.224A>T NP_001299601.1:p.Glu75Val NC_000001.11:196958055:A:T p.(Glu75Val) NC_000001.11:196958055:A:T p.(Glu75Val) NC_000001.11:196958055:A:T Identity +NM_001172774.2:c.695G>C NP_001166245.1:p.Arg232Thr NC_000019.10:32439209:G:C p.(Arg232Thr) NC_000019.10:32439209:G:C p.(Arg232Thr) NC_000019.10:32439209:G:C Identity +NM_001080378.2:c.397G>A NP_001073847.1:p.Asp133Asn NC_000006.12:163062254:G:A p.(Asp133Asn) NC_000006.12:163062254:G:A p.(Asp133Asn) NC_000006.12:163062254:G:A Identity +NM_144575.3:c.1142G>C NP_653176.2:p.Gly381Ala NC_000002.12:30751196:C:G p.(Gly381Ala) NC_000002.12:30751196:C:G p.(Gly381Ala) NC_000002.12:30751196:C:G Identity +NM_182924.4:c.2548G>A NP_891554.1:p.Asp850Asn NC_000007.14:1436784:C:T p.(Asp850Asn) NC_000007.14:1436784:C:T p.(Asp850Asn) NC_000007.14:1436784:C:T Identity +NM_206996.4:c.6290T>C NP_996879.1:p.Val2097Ala NC_000001.11:117971898:A:G p.(Val2097Ala) NC_000001.11:117971898:A:G p.(Val2097Ala) NC_000001.11:117971898:A:G Identity +NM_001324255.2:c.3475G>C NP_001311184.1:p.Glu1159Gln NC_000005.10:72197207:G:C p.(Glu1159Gln) NC_000005.10:72197207:G:C p.(Glu1159Gln) NC_000005.10:72197207:G:C Identity +NM_001270472.3:c.409C>T NP_001257401.2:p.Pro137Ser NC_000006.12:52279583:G:A p.(Pro137Ser) NC_000006.12:52279583:G:A p.(Pro137Ser) NC_000006.12:52279583:G:A Identity +NM_001321647.2:c.109A>G NP_001308576.1:p.Met37Val NC_000010.11:12184910:T:C p.(Met37Val) NC_000010.11:12184910:T:C p.(Met37Val) NC_000010.11:12184910:T:C Identity +NM_181646.5:c.2396G>A NP_857597.1:p.Arg799His NC_000007.14:89335377:G:A p.(Arg799His) NC_000007.14:89335377:G:A p.(Arg799His) NC_000007.14:89335377:G:A Identity +NM_001366652.1:c.2194C>T NP_001353581.1:p.His732Tyr NC_000005.10:160620568:G:A p.(His732Tyr) NC_000005.10:160620568:G:A p.(His732Tyr) NC_000005.10:160620568:G:A Identity +NM_001348010.4:c.1952A>G NP_001334939.2:p.Glu651Gly NC_000009.12:97330453:A:G p.(Glu651Gly) NC_000009.12:97330453:A:G p.(Glu651Gly) NC_000009.12:97330453:A:G Identity +NM_001010893.3:c.1210G>T NP_001010893.1:p.Ala404Ser NC_000008.11:81693762:C:A p.(Ala404Ser) NC_000008.11:81693762:C:A p.(Ala404Ser) NC_000008.11:81693762:C:A Identity +NM_001286134.2:c.800G>A NP_001273063.1:p.Arg267His NC_000011.10:210643:G:A p.(Arg267His) NC_000011.10:210643:G:A p.(Arg267His) NC_000011.10:210643:G:A Identity +NM_052813.5:c.664G>A NP_434700.2:p.Asp222Asn NC_000009.12:136370664:C:T p.(Asp222Asn) NC_000009.12:136370664:C:T p.(Asp222Asn) NC_000009.12:136370664:C:T Identity +NM_144666.3:c.7121T>C NP_653267.2:p.Val2374Ala NC_000011.10:6548666:T:C p.(Val2374Ala) NC_000011.10:6548666:T:C p.(Val2374Ala) NC_000011.10:6548666:T:C Identity +NM_001376932.3:c.1046A>G NP_001363861.2:p.Asn349Ser NC_000020.11:33068881:A:G p.(Asn349Ser) NC_000020.11:33068881:A:G p.(Asn349Ser) NC_000020.11:33068881:A:G Identity +NM_001387134.1:c.592C>T NP_001374063.1:p.Arg198Cys NC_000007.14:100220990:C:T p.(Arg198Cys) NC_000007.14:100220990:C:T p.(Arg198Cys) NC_000007.14:100220990:C:T Identity +NM_018128.5:c.964C>G NP_060598.3:p.Pro322Ala NC_000017.11:2334488:G:C p.(Pro322Ala) NC_000017.11:2334488:G:C p.(Pro322Ala) NC_000017.11:2334488:G:C Identity +NM_001303095.1:c.871C>T NP_001290024.1:p.Arg291Trp NC_000001.11:156724224:G:A p.(Arg291Trp) NC_000001.11:156724224:G:A p.(Arg291Trp) NC_000001.11:156724224:G:A Identity +NM_001001710.3:c.563G>A NP_001001710.1:p.Arg188His NC_000009.12:137245177:C:T p.(Arg188His) NC_000009.12:137245177:C:T p.(Arg188His) NC_000009.12:137245177:C:T Identity +NM_001330484.2:c.179C>G NP_001317413.1:p.Thr60Ser NC_000002.12:27133267:G:C p.(Thr60Ser) NC_000002.12:27133267:G:C p.(Thr60Ser) NC_000002.12:27133267:G:C Identity +NM_001008389.3:c.19A>G NP_001008390.1:p.Thr7Ala NC_000016.10:20350718:T:C p.(Thr7Ala) NC_000016.10:20350718:T:C p.(Thr7Ala) NC_000016.10:20350718:T:C Identity +NM_001363613.2:c.627G>T NP_001350542.1:p.Lys209Asn NC_000012.12:12330593:C:A p.(Lys209Asn) NC_000012.12:12330593:C:A p.(Lys209Asn) NC_000012.12:12330593:C:A Identity +NM_033191.3:c.427A>C NP_149461.2:p.Thr143Pro NC_000017.11:41250146:A:C p.(Thr143Pro) NC_000017.11:41250146:A:C p.(Thr143Pro) NC_000017.11:41250146:A:C Identity +NM_175873.6:c.436G>C NP_787069.4:p.Gly146Arg NC_000005.10:132814056:G:C p.(Gly146Arg) NC_000005.10:132814056:G:C p.(Gly146Arg) NC_000005.10:132814056:G:C Identity +NM_001143980.3:c.1666C>T NP_001137452.1:p.Leu556Phe NC_000016.10:1435114:G:A p.(Leu556Phe) NC_000016.10:1435114:G:A p.(Leu556Phe) NC_000016.10:1435114:G:A Identity +NM_001388405.1:c.713C>T NP_001375334.1:p.Pro238Leu NC_000017.11:6090490:C:T p.(Pro238Leu) NC_000017.11:6090490:C:T p.(Pro238Leu) NC_000017.11:6090490:C:T Identity +NM_000361.3:c.711G>T NP_000352.1:p.Arg237Ser NC_000020.11:23048793:C:A p.(Arg237Ser) NC_000020.11:23048793:C:A p.(Arg237Ser) NC_000020.11:23048793:C:A Identity +NM_001256714.1:c.1289C>T NP_001243643.1:p.Pro430Leu NC_000019.10:55159973:G:A p.(Pro430Leu) NC_000019.10:55159973:G:A p.(Pro430Leu) NC_000019.10:55159973:G:A Identity +NM_030774.4:c.512A>G NP_110401.1:p.Asn171Ser NC_000011.10:4682199:T:C p.(Asn171Ser) NC_000011.10:4682199:T:C p.(Asn171Ser) NC_000011.10:4682199:T:C Identity +NM_001365276.2:c.8971G>A NP_001352205.1:p.Gly2991Arg NC_000006.12:32052813:C:T p.(Gly2991Arg) NC_000006.12:32052813:C:T p.(Gly2991Arg) NC_000006.12:32052813:C:T Identity +NM_000764.3:c.474G>C NP_000755.2:p.Glu158Asp NC_000019.10:40880497:C:G p.(Glu158Asp) NC_000019.10:40880497:C:G p.(Glu158Asp) NC_000019.10:40880497:C:G Identity +NM_004053.4:c.586C>T NP_004044.3:p.Arg196Cys NC_000006.12:41930649:C:T p.(Arg196Cys) NC_000006.12:41930649:C:T p.(Arg196Cys) NC_000006.12:41930649:C:T Identity +NM_001080408.3:c.212T>C NP_001073877.2:p.Ile71Thr NC_000014.9:74863622:A:G p.(Ile71Thr) NC_000014.9:74863622:A:G p.(Ile71Thr) NC_000014.9:74863622:A:G Identity +NM_018429.3:c.1882A>G NP_060899.2:p.Lys628Glu NC_000005.10:71497351:A:G p.(Lys628Glu) NC_000005.10:71497351:A:G p.(Lys628Glu) NC_000005.10:71497351:A:G Identity +NM_001005388.3:c.2959G>A NP_001005388.2:p.Ala987Thr NC_000001.11:204997345:G:A p.(Ala987Thr) NC_000001.11:204997345:G:A p.(Ala987Thr) NC_000001.11:204997345:G:A Identity +NM_001256552.1:c.533A>T NP_001243481.1:p.Glu178Val NC_000015.10:75349179:A:T p.(Glu178Val) NC_000015.10:75349179:A:T p.(Glu178Val) NC_000015.10:75349179:A:T Identity +NM_001393501.1:c.3284G>A NP_001380430.1:p.Arg1095His NC_000019.10:18146977:G:A p.(Arg1095His) NC_000019.10:18146977:G:A p.(Arg1095His) NC_000019.10:18146977:G:A Identity +NM_022575.4:c.1088C>T NP_072097.2:p.Ala363Val NC_000020.11:2862594:C:T p.(Ala363Val) NC_000020.11:2862594:C:T p.(Ala363Val) NC_000020.11:2862594:C:T Identity +NM_020778.5:c.2285G>T NP_065829.4:p.Gly762Val NC_000015.10:84857022:G:T p.(Gly762Val) NC_000015.10:84857022:G:T p.(Gly762Val) NC_000015.10:84857022:G:T Identity +NM_003196.3:c.362G>A NP_003187.1:p.Arg121Gln NC_000001.11:23417266:C:T p.(Arg121Gln) NC_000001.11:23417266:C:T p.(Arg121Gln) NC_000001.11:23417266:C:T Identity +NM_020950.2:c.668G>T NP_066001.1:p.Gly223Val NC_000001.11:180916770:G:T p.(Gly223Val) NC_000001.11:180916770:G:T p.(Gly223Val) NC_000001.11:180916770:G:T Identity +NM_001278268.2:c.1140G>C NP_001265197.1:p.Gln380His NC_000018.10:62369098:G:C p.(Gln380His) NC_000018.10:62369098:G:C p.(Gln380His) NC_000018.10:62369098:G:C Identity +NM_007138.2:c.1295A>G NP_009069.1:p.Lys432Arg NC_000019.10:20118848:A:G p.(Lys432Arg) NC_000019.10:20118848:A:G p.(Lys432Arg) NC_000019.10:20118848:A:G Identity +NM_001012753.2:c.928A>G NP_001012771.1:p.Thr310Ala NC_000019.10:11978842:A:G p.(Thr310Ala) NC_000019.10:11978842:A:G p.(Thr310Ala) NC_000019.10:11978842:A:G Identity +NM_001146339.2:c.481G>A NP_001139811.1:p.Glu161Lys NC_000019.10:29530001:G:A p.(Glu161Lys) NC_000019.10:29530001:G:A p.(Glu161Lys) NC_000019.10:29530001:G:A Identity +NM_005244.5:c.1045A>T NP_005235.3:p.Asn349Tyr NC_000020.11:47172713:A:T p.(Asn349Tyr) NC_000020.11:47172713:A:T p.(Asn349Tyr) NC_000020.11:47172713:A:T Identity +NM_001080414.4:c.5573G>A NP_001073883.2:p.Arg1858Gln NC_000014.9:91273138:C:T p.(Arg1858Gln) NC_000014.9:91273138:C:T p.(Arg1858Gln) NC_000014.9:91273138:C:T Identity +NM_001004483.1:c.85G>C NP_001004483.1:p.Val29Leu NC_000009.12:104569251:G:C p.(Val29Leu) NC_000009.12:104569251:G:C p.(Val29Leu) NC_000009.12:104569251:G:C Identity +NM_005224.3:c.296C>T NP_005215.1:p.Pro99Leu NC_000019.10:929823:C:T p.(Pro99Leu) NC_000019.10:929823:C:T p.(Pro99Leu) NC_000019.10:929823:C:T Identity +NM_007235.6:c.1810G>A NP_009166.2:p.Val604Ile NC_000012.12:64430120:G:A p.(Val604Ile) NC_000012.12:64430120:G:A p.(Val604Ile) NC_000012.12:64430120:G:A Identity +NM_001008493.3:c.1153G>C NP_001008493.1:p.Asp385His NC_000001.11:225514660:C:G p.(Asp385His) NC_000001.11:225514660:C:G p.(Asp385His) NC_000001.11:225514660:C:G Identity +NM_001286561.2:c.897C>G NP_001273490.1:p.Cys299Trp NC_000011.10:72018263:G:C p.(Cys299Trp) NC_000011.10:72018263:G:C p.(Cys299Trp) NC_000011.10:72018263:G:C Identity +NM_001693.4:c.1456A>G NP_001684.2:p.Ile486Val NC_000008.11:20220321:A:G p.(Ile486Val) NC_000008.11:20220321:A:G p.(Ile486Val) NC_000008.11:20220321:A:G Identity +NM_002332.3:c.11432C>G NP_002323.2:p.Ser3811Trp NC_000012.12:57205446:C:G p.(Ser3811Trp) NC_000012.12:57205446:C:G p.(Ser3811Trp) NC_000012.12:57205446:C:G Identity +NM_015692.5:c.5587G>A NP_056507.3:p.Val1863Ile NC_000019.10:16893178:C:T p.(Val1863Ile) NC_000019.10:16893178:C:T p.(Val1863Ile) NC_000019.10:16893178:C:T Identity +NM_001407.3:c.1597A>G NP_001398.2:p.Ile533Val NC_000003.12:48661037:T:C p.(Ile533Val) NC_000003.12:48661037:T:C p.(Ile533Val) NC_000003.12:48661037:T:C Identity +NM_020825.4:c.1607G>A NP_065876.3:p.Arg536Gln NC_000016.10:1656363:G:A p.(Arg536Gln) NC_000016.10:1656363:G:A p.(Arg536Gln) NC_000016.10:1656363:G:A Identity +NM_031218.4:c.992A>G NP_112495.2:p.His331Arg NC_000019.10:19933946:A:G p.(His331Arg) NC_000019.10:19933946:A:G p.(His331Arg) NC_000019.10:19933946:A:G Identity +NM_001001670.3:c.1691C>G NP_001001670.1:p.Pro564Arg NC_000009.12:81992160:C:G p.(Pro564Arg) NC_000009.12:81992160:C:G p.(Pro564Arg) NC_000009.12:81992160:C:G Identity +NM_001005173.3:c.875T>A NP_001005173.3:p.Val292Asp NC_000011.10:5986055:A:T p.(Val292Asp) NC_000011.10:5986055:A:T p.(Val292Asp) NC_000011.10:5986055:A:T Identity +NM_001389643.1:c.2440G>A NP_001376572.1:p.Val814Met NC_000019.10:57131114:G:A p.(Val814Met) NC_000019.10:57131114:G:A p.(Val814Met) NC_000019.10:57131114:G:A Identity +NM_025250.3:c.1242G>T NP_079526.1:p.Gln414His NC_000007.14:2656525:G:T p.(Gln414His) NC_000007.14:2656525:G:T p.(Gln414His) NC_000007.14:2656525:G:T Identity +NM_001134848.2:c.104A>G NP_001128320.1:p.Asn35Ser NC_000005.10:42762458:A:G p.(Asn35Ser) NC_000005.10:42762458:A:G p.(Asn35Ser) NC_000005.10:42762458:A:G Identity +NM_001193464.2:c.641A>G NP_001180393.1:p.Tyr214Cys NC_000002.12:43796778:A:G p.(Tyr214Cys) NC_000002.12:43796778:A:G p.(Tyr214Cys) NC_000002.12:43796778:A:G Identity +NM_001098531.4:c.1744G>A NP_001092001.2:p.Val582Met NC_000012.12:47743610:C:T p.(Val582Met) NC_000012.12:47743610:C:T p.(Val582Met) NC_000012.12:47743610:C:T Identity +NM_012393.3:c.988C>T NP_036525.1:p.Arg330Trp NC_000017.11:8256875:C:T p.(Arg330Trp) NC_000017.11:8256875:C:T p.(Arg330Trp) NC_000017.11:8256875:C:T Identity +NM_001080414.4:c.2969C>T NP_001073883.2:p.Ala990Val NC_000014.9:91308387:G:A p.(Ala990Val) NC_000014.9:91308387:G:A p.(Ala990Val) NC_000014.9:91308387:G:A Identity +NM_032140.3:c.709T>G NP_115516.1:p.Tyr237Asp NC_000016.10:67663690:A:C p.(Tyr237Asp) NC_000016.10:67663690:A:C p.(Tyr237Asp) NC_000016.10:67663690:A:C Identity +NM_001199159.2:c.911C>T NP_001186088.1:p.Pro304Leu NC_000006.12:36963252:C:T p.(Pro304Leu) NC_000006.12:36963252:C:T p.(Pro304Leu) NC_000006.12:36963252:C:T Identity +NM_001005505.3:c.145C>T NP_001005505.1:p.Pro49Ser NC_000003.12:50503278:G:A p.(Pro49Ser) NC_000003.12:50503278:G:A p.(Pro49Ser) NC_000003.12:50503278:G:A Identity +NM_001319182.2:c.814G>A NP_001306111.1:p.Val272Ile NC_000001.11:202001377:G:A p.(Val272Ile) NC_000001.11:202001377:G:A p.(Val272Ile) NC_000001.11:202001377:G:A Identity +NM_001099852.2:c.188G>A NP_001093322.2:p.Arg63His NC_000001.11:13416541:G:A p.(Arg63His) NC_000001.11:13416541:G:A p.(Arg63His) NC_000001.11:13416541:G:A Identity +NM_001014286.3:c.1747G>A NP_001014308.2:p.Gly583Ser NC_000013.11:37021516:C:T p.(Gly583Ser) NC_000013.11:37021516:C:T p.(Gly583Ser) NC_000013.11:37021516:C:T Identity +NM_001145453.4:c.1130G>C NP_001138925.1:p.Gly377Ala NC_000010.11:116089792:C:G p.(Gly377Ala) NC_000010.11:116089792:C:G p.(Gly377Ala) NC_000010.11:116089792:C:G Identity +NM_003012.5:c.149G>C NP_003003.3:p.Arg50Pro NC_000008.11:41309010:C:G p.(Arg50Pro) NC_000008.11:41309010:C:G p.(Arg50Pro) NC_000008.11:41309010:C:G Identity +NM_024683.4:c.6C>G NP_078959.3:p.Ser2Arg NC_000017.11:30906192:G:C p.(Ser2Arg) NC_000017.11:30906192:G:C p.(Ser2Arg) NC_000017.11:30906192:G:C Identity +NM_007210.4:c.1594G>A NP_009141.2:p.Gly532Ser NC_000012.12:51357356:C:T p.(Gly532Ser) NC_000012.12:51357356:C:T p.(Gly532Ser) NC_000012.12:51357356:C:T Identity +NM_005858.4:c.1829C>T NP_005849.1:p.Thr610Met NC_000019.10:15355164:G:A p.(Thr610Met) NC_000019.10:15355164:G:A p.(Thr610Met) NC_000019.10:15355164:G:A Identity +NM_001207017.1:c.1556T>C NP_001193946.1:p.Ile519Thr NC_000022.11:31091416:T:C p.(Ile519Thr) NC_000022.11:31091416:T:C p.(Ile519Thr) NC_000022.11:31091416:T:C Identity +NM_207414.3:c.3602G>A NP_997297.2:p.Arg1201Gln NC_000008.11:141435202:C:T p.(Arg1201Gln) NW_025791786.1:101756:C:T p.(Arg1201Gln) NC_000008.11:101756:C:T Identity +NM_005082.5:c.1117A>G NP_005073.2:p.Thr373Ala NC_000017.11:56899150:T:C p.(Thr373Ala) NC_000017.11:56899150:T:C p.(Thr373Ala) NC_000017.11:56899150:T:C Identity +NM_001376877.1:c.2365G>A NP_001363806.1:p.Val789Met NC_000022.11:50283888:C:T p.(Val789Met) NC_000022.11:50283888:C:T p.(Val789Met) NC_000022.11:50283888:C:T Identity +NM_001195200.2:c.343C>G NP_001182129.1:p.Gln115Glu NC_000009.12:35660579:C:G p.(Gln115Glu) NC_000009.12:35660579:C:G p.(Gln115Glu) NC_000009.12:35660579:C:G Identity +NM_001135032.2:c.280G>A NP_001128504.1:p.Asp94Asn NC_000002.12:75493414:C:T p.(Asp94Asn) NC_000002.12:75493414:C:T p.(Asp94Asn) NC_000002.12:75493414:C:T Identity +NM_001394828.1:c.907C>T NP_001381757.1:p.Arg303Trp NC_000006.12:29426734:G:A p.(Arg303Trp) NC_000006.12:29426734:G:A p.(Arg303Trp) NC_000006.12:29426734:G:A Identity +NM_032169.5:c.2302G>C NP_115545.3:p.Glu768Gln NC_000003.12:132559011:C:G p.(Glu768Gln) NC_000003.12:132559011:C:G p.(Glu768Gln) NC_000003.12:132559011:C:G Identity +NM_001382464.1:c.553C>G NP_001369393.1:p.Gln185Glu NC_000014.9:52666489:G:C p.(Gln185Glu) NC_000014.9:52666489:G:C p.(Gln185Glu) NC_000014.9:52666489:G:C Identity +NM_019601.4:c.1457G>A NP_062547.1:p.Arg486Gln NC_000022.11:24186132:G:A p.(Arg486Gln) NC_000022.11:24186132:G:A p.(Arg486Gln) NC_000022.11:24186132:G:A Identity +NM_001321099.2:c.223G>A NP_001308028.1:p.Val75Ile NC_000002.12:196902646:C:T p.(Val75Ile) NC_000002.12:196902646:C:T p.(Val75Ile) NC_000002.12:196902646:C:T Identity +NM_007197.4:c.893A>C NP_009128.1:p.Tyr298Ser NC_000012.12:130163834:A:C p.(Tyr298Ser) NC_000012.12:130163834:A:C p.(Tyr298Ser) NC_000012.12:130163834:A:C Identity +NM_001202403.2:c.259G>A NP_001189332.1:p.Val87Ile NC_000009.12:129640576:C:T p.(Val87Ile) NC_000009.12:129640576:C:T p.(Val87Ile) NC_000009.12:129640576:C:T Identity +NM_001128211.2:c.639T>A NP_001121683.1:p.Asn213Lys NC_000008.11:109289847:A:T p.(Asn213Lys) NC_000008.11:109289847:A:T p.(Asn213Lys) NC_000008.11:109289847:A:T Identity +NM_014978.3:c.2002A>C NP_055793.1:p.Ile668Leu NC_000010.11:105178165:A:C p.(Ile668Leu) NC_000010.11:105178165:A:C p.(Ile668Leu) NC_000010.11:105178165:A:C Identity +NM_001320276.2:c.850G>A NP_001307205.1:p.Gly284Ser NC_000003.12:14819920:G:A p.(Gly284Ser) NC_000003.12:14819920:G:A p.(Gly284Ser) NC_000003.12:14819920:G:A Identity +NM_001148.6:c.10343G>A NP_001139.3:p.Ser3448Asn NC_000004.12:113358960:G:A p.(Ser3448Asn) NC_000004.12:113358960:G:A p.(Ser3448Asn) NC_000004.12:113358960:G:A Identity +NM_001395010.1:c.1975G>A NP_001381939.1:p.Gly659Arg NC_000009.12:121770620:G:A p.(Gly659Arg) NC_000009.12:121770620:G:A p.(Gly659Arg) NC_000009.12:121770620:G:A Identity +NM_001007257.3:c.3986C>G NP_001007258.1:p.Pro1329Arg NC_000001.11:13782383:C:G p.(Pro1329Arg) NC_000001.11:13782383:C:G p.(Pro1329Arg) NC_000001.11:13782383:C:G Identity +NM_018697.4:c.131C>T NP_061167.1:p.Ala44Val NC_000007.14:55366155:C:T p.(Ala44Val) NC_000007.14:55366155:C:T p.(Ala44Val) NC_000007.14:55366155:C:T Identity +NM_001004743.1:c.355G>A NP_001004743.1:p.Asp119Asn NC_000011.10:56463046:C:T p.(Asp119Asn) NC_000011.10:56463046:C:T p.(Asp119Asn) NC_000011.10:56463046:C:T Identity +NM_206933.4:c.6598T>C NP_996816.3:p.Phe2200Leu NC_000001.11:215998945:A:G p.(Phe2200Leu) NC_000001.11:215998945:A:G p.(Phe2200Leu) NC_000001.11:215998945:A:G Identity +NM_001111038.2:c.8C>T NP_001104508.1:p.Pro3Leu NC_000007.14:103029410:G:A p.(Pro3Leu) NC_000007.14:103029410:G:A p.(Pro3Leu) NC_000007.14:103029410:G:A Identity +NM_001207025.4:c.808A>G NP_001193954.1:p.Thr270Ala NC_000019.10:42095690:T:C p.(Thr270Ala) NC_000019.10:42095690:T:C p.(Thr270Ala) NC_000019.10:42095690:T:C Identity +NM_001079812.3:c.3125C>G NP_001073280.1:p.Ser1042Cys NC_000005.10:141527693:G:C p.(Ser1042Cys) NC_000005.10:141527693:G:C p.(Ser1042Cys) NC_000005.10:141527693:G:C Identity +NM_000032.5:c.886G>A NP_000023.2:p.Gly296Arg NC_000023.11:55017602:C:T p.(Gly296Arg) NC_000023.11:55017602:C:T p.(Gly296Arg) NC_000023.11:55017602:C:T Identity +NM_181844.4:c.38A>G NP_862827.2:p.Tyr13Cys NC_000017.11:7023708:A:G p.(Tyr13Cys) NC_000017.11:7023708:A:G p.(Tyr13Cys) NC_000017.11:7023708:A:G Identity +NM_006099.3:c.1796C>G NP_006090.2:p.Pro599Arg NC_000001.11:145849536:G:C p.(Pro599Arg) NC_000001.11:145849536:G:C p.(Pro599Arg) NC_000001.11:145849536:G:C Identity +NM_001286561.2:c.3097C>T NP_001273490.1:p.Arg1033Trp NC_000011.10:72014405:G:A p.(Arg1033Trp) NC_000011.10:72014405:G:A p.(Arg1033Trp) NC_000011.10:72014405:G:A Identity +NM_001287491.2:c.464C>T NP_001274420.1:p.Pro155Leu NC_000002.12:74046380:C:T p.(Pro155Leu) NC_000002.12:74046380:C:T p.(Pro155Leu) NC_000002.12:74046380:C:T Identity +NM_002196.3:c.1141T>C NP_002187.1:p.Tyr381His NC_000020.11:20369407:T:C p.(Tyr381His) NC_000020.11:20369407:T:C p.(Tyr381His) NC_000020.11:20369407:T:C Identity +NM_015656.2:c.704G>A NP_056471.1:p.Arg235Gln NC_000014.9:104152429:G:A p.(Arg235Gln) NC_000014.9:104152429:G:A p.(Arg235Gln) NC_000014.9:104152429:G:A Identity +NM_001385622.1:c.510G>A NP_001372551.1:p.Met170Ile NC_000002.12:96192398:C:T p.(Met170Ile) NC_000002.12:96192398:C:T p.(Met170Ile) NC_000002.12:96192398:C:T Identity +NM_001318391.2:c.1652G>A NP_001305320.1:p.Arg551Gln NC_000016.10:69167141:G:A p.(Arg551Gln) NC_000016.10:69167141:G:A p.(Arg551Gln) NC_000016.10:69167141:G:A Identity +NM_004564.3:c.1479A>T NP_004555.1:p.Glu493Asp NC_000004.12:151672827:T:A p.(Glu493Asp) NC_000004.12:151672827:T:A p.(Glu493Asp) NC_000004.12:151672827:T:A Identity +NM_022662.4:c.2149C>G NP_073153.1:p.Gln717Glu NC_000002.12:111834838:G:C p.(Gln717Glu) NC_000002.12:111834838:G:C p.(Gln717Glu) NC_000002.12:111834838:G:C Identity +NM_024775.10:c.223G>A NP_079051.9:p.Asp75Asn NC_000002.12:38781610:G:A p.(Asp75Asn) NC_000002.12:38781610:G:A p.(Asp75Asn) NC_000002.12:38781610:G:A Identity +NM_001145909.2:c.3235G>A NP_001139381.1:p.Ala1079Thr NC_000002.12:159217510:G:A p.(Ala1079Thr) NC_000002.12:159217510:G:A p.(Ala1079Thr) NC_000002.12:159217510:G:A Identity +NM_001329928.2:c.131G>A NP_001316857.1:p.Arg44Gln NC_000016.10:66884414:G:A p.(Arg44Gln) NC_000016.10:66884414:G:A p.(Arg44Gln) NC_000016.10:66884414:G:A Identity +NM_001029997.4:c.1667A>C NP_001025168.2:p.Tyr556Ser NC_000019.10:34742047:A:C p.(Tyr556Ser) NC_000019.10:34742047:A:C p.(Tyr556Ser) NC_000019.10:34742047:A:C Identity +NM_006404.5:c.517C>G NP_006395.2:p.Arg173Gly NC_000020.11:35176361:C:G p.(Arg173Gly) NC_000020.11:35176361:C:G p.(Arg173Gly) NC_000020.11:35176361:C:G Identity +NM_001385642.1:c.931G>A NP_001372571.1:p.Gly311Arg NC_000019.10:2415722:G:A p.(Gly311Arg) NC_000019.10:2415722:G:A p.(Gly311Arg) NC_000019.10:2415722:G:A Identity +NM_016148.5:c.1360C>T NP_057232.2:p.Pro454Ser NC_000019.10:50703692:G:A p.(Pro454Ser) NC_000019.10:50703692:G:A p.(Pro454Ser) NC_000019.10:50703692:G:A Identity +NM_173628.4:c.2824A>G NP_775899.3:p.Ile942Val NC_000017.11:78537333:T:C p.(Ile942Val) NC_000017.11:78537333:T:C p.(Ile942Val) NC_000017.11:78537333:T:C Identity +NM_001329442.2:c.185G>A NP_001316371.1:p.Gly62Glu NC_000008.11:144497378:G:A p.(Gly62Glu) NC_000008.11:144497378:G:A p.(Gly62Glu) NC_000008.11:144497378:G:A Identity +NM_001278529.2:c.2174C>T NP_001265458.1:p.Pro725Leu NC_000014.9:21087391:C:T p.(Pro725Leu) NC_000014.9:21087391:C:T p.(Pro725Leu) NC_000014.9:21087391:C:T Identity +NM_001020818.2:c.583A>G NP_001018654.1:p.Asn195Asp NC_000019.10:53874111:A:G p.(Asn195Asp) NC_000019.10:53874111:A:G p.(Asn195Asp) NC_000019.10:53874111:A:G Identity +NM_006788.4:c.1814C>T NP_006779.1:p.Ala605Val NC_000018.10:9535782:C:T p.(Ala605Val) NC_000018.10:9535782:C:T p.(Ala605Val) NC_000018.10:9535782:C:T Identity +NM_001271765.2:c.571C>T NP_001258694.1:p.Pro191Ser NC_000017.11:75100233:C:T p.(Pro191Ser) NC_000017.11:75100233:C:T p.(Pro191Ser) NC_000017.11:75100233:C:T Identity +NM_001297755.2:c.1043C>T NP_001284684.2:p.Ser348Phe NC_000004.12:83448930:G:A p.(Ser348Phe) NC_000004.12:83448930:G:A p.(Ser348Phe) NC_000004.12:83448930:G:A Identity +NM_001001396.3:c.220G>A NP_001001396.1:p.Glu74Lys NC_000001.11:203698182:G:A p.(Glu74Lys) NC_000001.11:203698182:G:A p.(Glu74Lys) NC_000001.11:203698182:G:A Identity +NM_001243466.2:c.458C>T NP_001230395.1:p.Thr153Met NC_000013.11:33130194:G:A p.(Thr153Met) NC_000013.11:33130194:G:A p.(Thr153Met) NC_000013.11:33130194:G:A Identity +NM_003802.3:c.3568G>A NP_003793.2:p.Glu1190Lys NC_000017.11:10318959:C:T p.(Glu1190Lys) NC_000017.11:10318959:C:T p.(Glu1190Lys) NC_000017.11:10318959:C:T Identity +NM_001258390.2:c.1045G>A NP_001245319.1:p.Val349Met NC_000011.10:111560353:G:A p.(Val349Met) NC_000011.10:111560353:G:A p.(Val349Met) NC_000011.10:111560353:G:A Identity +NM_003842.5:c.1045G>T NP_003833.4:p.Val349Leu NC_000008.11:23022948:C:A p.(Val349Leu) NC_000008.11:23022948:C:A p.(Val349Leu) NC_000008.11:23022948:C:A Identity +NM_001308225.2:c.1976T>C NP_001295154.1:p.Val659Ala NC_000018.10:25225281:A:G p.(Val659Ala) NC_000018.10:25225281:A:G p.(Val659Ala) NC_000018.10:25225281:A:G Identity +NM_003005.4:c.1765C>T NP_002996.2:p.Arg589Cys NC_000001.11:169597116:G:A p.(Arg589Cys) NC_000001.11:169597116:G:A p.(Arg589Cys) NC_000001.11:169597116:G:A Identity +NM_007153.3:c.1750G>A NP_009084.2:p.Glu584Lys NC_000019.10:21973283:C:T p.(Glu584Lys) NC_000019.10:21973283:C:T p.(Glu584Lys) NC_000019.10:21973283:C:T Identity +NM_001304351.2:c.1126A>G NP_001291280.1:p.Ser376Gly NC_000008.11:24331171:A:G p.(Ser376Gly) NC_000008.11:24331171:A:G p.(Ser376Gly) NC_000008.11:24331171:A:G Identity +NM_001204414.2:c.500A>G NP_001191343.1:p.Asn167Ser NC_000001.11:31584687:A:G p.(Asn167Ser) NC_000001.11:31584687:A:G p.(Asn167Ser) NC_000001.11:31584687:A:G Identity +NM_024490.4:c.570C>G NP_077816.1:p.Asp190Glu NC_000015.10:25781102:G:C p.(Asp190Glu) NC_000015.10:25781102:G:C p.(Asp190Glu) NC_000015.10:25781102:G:C Identity +NM_001318189.3:c.1124A>G NP_001305118.1:p.Asp375Gly NC_000010.11:122332469:A:G p.(Asp375Gly) NC_000010.11:122332469:A:G p.(Asp375Gly) NC_000010.11:122332469:A:G Identity +NM_020196.3:c.2129T>C NP_064581.2:p.Phe710Ser NC_000019.10:7620411:A:G p.(Phe710Ser) NC_000019.10:7620411:A:G p.(Phe710Ser) NC_000019.10:7620411:A:G Identity +NM_001015001.2:c.1058G>T NP_001015001.1:p.Arg353Leu NC_000015.10:43698686:G:T p.(Arg353Leu) NC_000015.10:43698686:G:T p.(Arg353Leu) NC_000015.10:43698686:G:T Identity +NM_001046.3:c.3197A>G NP_001037.1:p.Asp1066Gly NC_000005.10:128180978:A:G p.(Asp1066Gly) NC_000005.10:128180978:A:G p.(Asp1066Gly) NC_000005.10:128180978:A:G Identity +NM_001710.6:c.1256G>A NP_001701.2:p.Arg419Lys NC_000006.12:31949329:G:A p.(Arg419Lys) NC_000006.12:31949329:G:A p.(Arg419Lys) NC_000006.12:31949329:G:A Identity +NM_006218.4:c.4C>T NP_006209.2:p.Pro2Ser NC_000003.12:179198828:C:T p.(Pro2Ser) NC_000003.12:179198828:C:T p.(Pro2Ser) NC_000003.12:179198828:C:T Identity +NM_001231.5:c.476A>G NP_001222.3:p.Asp159Gly NC_000001.11:160195021:A:G p.(Asp159Gly) NC_000001.11:160195021:A:G p.(Asp159Gly) NC_000001.11:160195021:A:G Identity +NM_015660.3:c.389A>C NP_056475.1:p.Lys130Thr NC_000007.14:150692674:A:C p.(Lys130Thr) NC_000007.14:150692674:A:C p.(Lys130Thr) NC_000007.14:150692674:A:C Identity +NM_001007239.2:c.1090A>C NP_001007240.1:p.Ile364Leu NC_000001.11:171792099:A:C p.(Ile364Leu) NC_000001.11:171792099:A:C p.(Ile364Leu) NC_000001.11:171792099:A:C Identity +NM_001007024.2:c.221T>C NP_001007025.1:p.Met74Thr NC_000017.11:30490192:T:C p.(Met74Thr) NC_000017.11:30490192:T:C p.(Met74Thr) NC_000017.11:30490192:T:C Identity +NM_001130158.3:c.2591A>G NP_001123630.1:p.Asn864Ser NC_000002.12:191408148:A:G p.(Asn864Ser) NC_000002.12:191408148:A:G p.(Asn864Ser) NC_000002.12:191408148:A:G Identity +NM_002097.3:c.422A>C NP_002088.2:p.Lys141Thr NC_000013.11:27430554:A:C p.(Lys141Thr) NC_000013.11:27430554:A:C p.(Lys141Thr) NC_000013.11:27430554:A:C Identity +NM_001270476.2:c.1130T>C NP_001257405.1:p.Leu377Pro NC_000006.12:43010908:T:C p.(Leu377Pro) NC_000006.12:43010908:T:C p.(Leu377Pro) NC_000006.12:43010908:T:C Identity +NM_001385619.1:c.2843A>G NP_001372548.1:p.Asp948Gly NC_000005.10:124647540:T:C p.(Asp948Gly) NC_000005.10:124647540:T:C p.(Asp948Gly) NC_000005.10:124647540:T:C Identity +NM_182588.3:c.2707T>C NP_872394.2:p.Ser903Pro NC_000002.12:107870710:T:C p.(Ser903Pro) NC_000002.12:107870710:T:C p.(Ser903Pro) NC_000002.12:107870710:T:C Identity +NM_001017923.2:c.443C>T NP_001017923.1:p.Ser148Phe NC_000014.9:44900877:C:T p.(Ser148Phe) NC_000014.9:44900877:C:T p.(Ser148Phe) NC_000014.9:44900877:C:T Identity +NM_001001887.1:c.365A>G NP_001001887.1:p.Glu122Gly NC_000010.11:89402639:A:G ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found ERR:AlignmentMapper(tx_ac=NM_001001887.1, alt_ac=NM_001001887.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001887.1, alt_ac=NM_001001887.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found +NM_006901.4:c.6874C>T NP_008832.2:p.Pro2292Ser NC_000015.10:71830274:G:A p.(Pro2292Ser) NC_000015.10:71830274:G:A p.(Pro2292Ser) NC_000015.10:71830274:G:A Identity +NM_001353983.2:c.1001C>T NP_001340912.1:p.Pro334Leu NC_000001.11:57015325:G:A p.(Pro334Leu) NC_000001.11:57015325:G:A p.(Pro334Leu) NC_000001.11:57015325:G:A Identity +NM_003818.4:c.791T>C NP_003809.1:p.Ile264Thr NC_000020.11:5185788:T:C p.(Ile264Thr) NC_000020.11:5185788:T:C p.(Ile264Thr) NC_000020.11:5185788:T:C Identity +NM_017742.6:c.194G>A NP_060212.4:p.Arg65Gln NC_000018.10:62523617:G:A p.(Arg65Gln) NC_000018.10:62523617:G:A p.(Arg65Gln) NC_000018.10:62523617:G:A Identity +NM_012384.5:c.827G>A NP_036516.1:p.Arg276Gln NC_000020.11:63592534:C:T p.(Arg276Gln) NC_000020.11:63592534:C:T p.(Arg276Gln) NC_000020.11:63592534:C:T Identity +NM_015356.5:c.2515C>T NP_056171.3:p.Arg839Trp NC_000008.11:143805266:G:A p.(Arg839Trp) NC_000008.11:143805266:G:A p.(Arg839Trp) NC_000008.11:143805266:G:A Identity +NM_001123.4:c.428G>T NP_001114.2:p.Cys143Phe NC_000010.11:74398502:G:T p.(Cys143Phe) NC_000010.11:74398502:G:T p.(Cys143Phe) NC_000010.11:74398502:G:T Identity +NM_198475.3:c.172C>T NP_940877.2:p.Arg58Trp NC_000017.11:44360078:G:A p.(Arg58Trp) NC_000017.11:44360078:G:A p.(Arg58Trp) NC_000017.11:44360078:G:A Identity +NM_001393918.1:c.669C>A NP_001380847.1:p.Ser223Arg NC_000019.10:1234289:G:T p.(Ser223Arg) NC_000019.10:1234289:G:T p.(Ser223Arg) NC_000019.10:1234289:G:T Identity +NM_001257199.2:c.901G>A NP_001244128.1:p.Ala301Thr NC_000012.12:50109438:G:A p.(Ala301Thr) NC_000012.12:50109438:G:A p.(Ala301Thr) NC_000012.12:50109438:G:A Identity +NM_001040694.2:c.1690C>T NP_001035784.1:p.Arg564Trp NC_000011.10:62145065:C:T p.(Arg564Trp) NC_000011.10:62145065:C:T p.(Arg564Trp) NC_000011.10:62145065:C:T Identity +NM_001503.4:c.1777A>C NP_001494.2:p.Thr593Pro NC_000006.12:24446880:T:G p.(Thr593Pro) NC_000006.12:24446880:T:G p.(Thr593Pro) NC_000006.12:24446880:T:G Identity +NM_138801.3:c.255A>T NP_620156.1:p.Lys85Asn NC_000002.12:38675975:A:T p.(Lys85Asn) NC_000002.12:38675975:A:T p.(Lys85Asn) NC_000002.12:38675975:A:T Identity +NM_006768.5:c.327A>C NP_006759.3:p.Glu109Asp NC_000012.12:111681752:T:G p.(Glu109Asp) NC_000012.12:111681752:T:G p.(Glu109Asp) NC_000012.12:111681752:T:G Identity +NM_001040105.2:c.5836C>T NP_001035194.1:p.Leu1946Phe NC_000007.14:101037251:C:T p.(Leu1946Phe) NC_000007.14:101037251:C:T p.(Leu1946Phe) NC_000007.14:101037251:C:T Identity +NM_080722.4:c.770G>A NP_542453.2:p.Gly257Asp NC_000010.11:70708677:G:A p.(Gly257Asp) NC_000010.11:70708677:G:A p.(Gly257Asp) NC_000010.11:70708677:G:A Identity +NM_001385230.1:c.261T>G NP_001372159.1:p.Asp87Glu NC_000013.11:25267821:A:C p.(Asp87Glu) NC_000013.11:25267821:A:C p.(Asp87Glu) NC_000013.11:25267821:A:C Identity +NM_175769.3:c.221G>C NP_786951.1:p.Arg74Thr NC_000002.12:27149353:G:C p.(Arg74Thr) NC_000002.12:27149353:G:C p.(Arg74Thr) NC_000002.12:27149353:G:C Identity +NM_021068.4:c.202G>A NP_066546.1:p.Gly68Ser NC_000009.12:21187329:C:T p.(Gly68Ser) NC_000009.12:21187329:C:T p.(Gly68Ser) NC_000009.12:21187329:C:T Identity +NM_001137674.3:c.1337G>A NP_001131146.2:p.Arg446Gln NC_000003.12:31990415:G:A p.(Arg446Gln) NC_000003.12:31990415:G:A p.(Arg446Gln) NC_000003.12:31990415:G:A Identity +NM_001308155.2:c.1052G>A NP_001295084.1:p.Arg351Gln NC_000003.12:168032559:C:T p.(Arg351Gln) NC_000003.12:168032559:C:T p.(Arg351Gln) NC_000003.12:168032559:C:T Identity +NM_032279.4:c.3376G>A NP_115655.2:p.Glu1126Lys NC_000003.12:193407314:C:T p.(Glu1126Lys) NC_000003.12:193407314:C:T p.(Glu1126Lys) NC_000003.12:193407314:C:T Identity +NM_001145277.2:c.50A>G NP_001138749.1:p.His17Arg NC_000001.11:16440810:A:G p.(His17Arg) NC_000001.11:16440810:A:G p.(His17Arg) NC_000001.11:16440810:A:G Identity +NM_001067.4:c.3328A>G NP_001058.2:p.Lys1110Glu NC_000017.11:40398897:T:C p.(Lys1110Glu) NC_000017.11:40398897:T:C p.(Lys1110Glu) NC_000017.11:40398897:T:C Identity +NM_001330640.2:c.4058A>C NP_001317569.1:p.Lys1353Thr NC_000009.12:19346826:A:C p.(Lys1353Thr) NC_000009.12:19346826:A:C p.(Lys1353Thr) NC_000009.12:19346826:A:C Identity +NM_001242867.2:c.1187G>A NP_001229796.1:p.Arg396His NC_000019.10:54866600:G:A p.(Arg396His) NC_000019.10:54866600:G:A p.(Arg396His) NC_000019.10:54866600:G:A Identity +NM_001282291.2:c.1391C>G NP_001269220.1:p.Pro464Arg NC_000007.14:151040585:C:G p.(Pro464Arg) NC_000007.14:151040585:C:G p.(Pro464Arg) NC_000007.14:151040585:C:G Identity +NM_001039877.2:c.1003C>T NP_001034966.1:p.Arg335Trp NC_000019.10:46728653:G:A p.(Arg335Trp) NC_000019.10:46728653:G:A p.(Arg335Trp) NC_000019.10:46728653:G:A Identity +NM_004388.3:c.8G>A NP_004379.1:p.Arg3Gln NC_000001.11:84574407:C:T p.(Arg3Gln) NC_000001.11:84574407:C:T p.(Arg3Gln) NC_000001.11:84574407:C:T Identity +NM_001270393.2:c.121G>A NP_001257322.1:p.Gly41Arg NC_000006.12:122717914:G:A p.(Gly41Arg) NC_000006.12:122717914:G:A p.(Gly41Arg) NC_000006.12:122717914:G:A Identity +NM_001293298.2:c.1120G>A NP_001280227.1:p.Glu374Lys NC_000015.10:80895022:G:A p.(Glu374Lys) NC_000015.10:80895022:G:A p.(Glu374Lys) NC_000015.10:80895022:G:A Identity +NM_001128615.2:c.370G>A NP_001122087.1:p.Ala124Thr NC_000003.12:56755081:C:T p.(Ala124Thr) NC_000003.12:56755081:C:T p.(Ala124Thr) NC_000003.12:56755081:C:T Identity +NM_014865.4:c.3773C>A NP_055680.3:p.Ser1258Tyr NC_000012.12:6529893:C:A p.(Ser1258Tyr) NC_000012.12:6529893:C:A p.(Ser1258Tyr) NC_000012.12:6529893:C:A Identity +NM_001002917.2:c.914T>C NP_001002917.1:p.Leu305Ser NC_000011.10:124309852:A:G p.(Leu305Ser) NC_000011.10:124309852:A:G p.(Leu305Ser) NC_000011.10:124309852:A:G Identity +NM_001363730.2:c.667G>A NP_001350659.1:p.Gly223Arg NC_000015.10:63926085:C:T p.(Gly223Arg) NC_000015.10:63926085:C:T p.(Gly223Arg) NC_000015.10:63926085:C:T Identity +NM_001005199.2:c.136A>C NP_001005199.1:p.Ile46Leu NC_000011.10:56290926:T:G p.(Ile46Leu) NC_000011.10:56290926:T:G p.(Ile46Leu) NC_000011.10:56290926:T:G Identity +NM_030976.2:c.41G>A NP_112238.1:p.Gly14Asp NC_000017.11:41140446:C:T p.(Gly14Asp) NC_000017.11:41140446:C:T p.(Gly14Asp) NC_000017.11:41140446:C:T Identity +NM_001301015.3:c.350T>C NP_001287944.1:p.Ile117Thr NC_000005.10:149200329:T:C p.(Ile117Thr) NC_000005.10:149200329:T:C p.(Ile117Thr) NC_000005.10:149200329:T:C Identity +NM_001366673.1:c.1208T>C NP_001353602.1:p.Leu403Pro NC_000007.14:34955338:A:G p.(Leu403Pro) NC_000007.14:34955338:A:G p.(Leu403Pro) NC_000007.14:34955338:A:G Identity +NM_001297658.2:c.724G>A NP_001284587.1:p.Gly242Ser NC_000011.10:2403356:G:A p.(Gly242Ser) NC_000011.10:2403356:G:A p.(Gly242Ser) NC_000011.10:2403356:G:A Identity +NM_001171976.2:c.1616C>T NP_001165447.1:p.Thr539Met NC_000005.10:176578405:C:T p.(Thr539Met) NC_000005.10:176578405:C:T p.(Thr539Met) NC_000005.10:176578405:C:T Identity +NM_001256041.2:c.721G>A NP_001242970.1:p.Ala241Thr NC_000012.12:57044128:C:T p.(Ala241Thr) NC_000012.12:57044128:C:T p.(Ala241Thr) NC_000012.12:57044128:C:T Identity +NM_001102.4:c.1268A>G NP_001093.1:p.Glu423Gly NC_000014.9:68885541:T:C p.(Glu423Gly) NC_000014.9:68885541:T:C p.(Glu423Gly) NC_000014.9:68885541:T:C Identity +NM_001142854.2:c.1015G>A NP_001136326.1:p.Ala339Thr NC_000021.9:46161386:C:T p.(Ala339Thr) NC_000021.9:46161386:C:T p.(Ala339Thr) NC_000021.9:46161386:C:T Identity +NM_032709.3:c.1360G>A NP_116098.2:p.Val454Ile NC_000010.11:98388440:C:T p.(Val454Ile) NC_000010.11:98388440:C:T p.(Val454Ile) NC_000010.11:98388440:C:T Identity +NM_001300761.4:c.311A>G NP_001287690.1:p.His104Arg NC_000004.12:146909192:T:C p.(His104Arg) NC_000004.12:146909192:T:C p.(His104Arg) NC_000004.12:146909192:T:C Identity +NM_004326.4:c.1432G>C NP_004317.2:p.Glu478Gln NC_000001.11:147619586:G:C p.(Glu478Gln) NC_000001.11:147619586:G:C p.(Glu478Gln) NC_000001.11:147619586:G:C Identity +NM_001378328.1:c.8296G>A NP_001365257.1:p.Val2766Ile NC_000022.11:46366389:C:T p.(Val2766Ile) NC_000022.11:46366389:C:T p.(Val2766Ile) NC_000022.11:46366389:C:T Identity +NM_030792.8:c.116C>T NP_110419.5:p.Pro39Leu NC_000011.10:75477619:G:A p.(Pro39Leu) NC_000011.10:75477619:G:A p.(Pro39Leu) NC_000011.10:75477619:G:A Identity +NM_001130967.3:c.965C>A NP_001124439.1:p.Ser322Tyr NC_000012.12:54370451:G:T p.(Ser322Tyr) NC_000012.12:54370451:G:T p.(Ser322Tyr) NC_000012.12:54370451:G:T Identity +NM_001105077.4:c.992C>A NP_001098547.3:p.Thr331Lys NC_000003.12:169116510:G:T p.(Thr331Lys) NC_000003.12:169116510:G:T p.(Thr331Lys) NC_000003.12:169116510:G:T Identity +NM_001031854.2:c.229C>T NP_001027025.2:p.Arg77Trp NC_000011.10:44048264:C:T p.(Arg77Trp) NC_000011.10:44048264:C:T p.(Arg77Trp) NC_000011.10:44048264:C:T Identity +NM_001317950.2:c.4253A>G NP_001304879.1:p.Gln1418Arg NC_000009.12:114337120:T:C p.(Gln1418Arg) NC_000009.12:114337120:T:C p.(Gln1418Arg) NC_000009.12:114337120:T:C Identity +NM_001923.5:c.2234C>T NP_001914.3:p.Thr745Met NC_000011.10:61311826:G:A p.(Thr745Met) NC_000011.10:61311826:G:A p.(Thr745Met) NC_000011.10:61311826:G:A Identity +NM_015044.4:c.446G>A NP_055859.1:p.Arg149Gln NC_000016.10:23491705:C:T p.(Arg149Gln) NC_000016.10:23491705:C:T p.(Arg149Gln) NC_000016.10:23491705:C:T Identity +NM_001300938.2:c.384A>T NP_001287867.1:p.Glu128Asp NC_000005.10:138087893:A:T p.(Glu128Asp) NC_000005.10:138087893:A:T p.(Glu128Asp) NC_000005.10:138087893:A:T Identity +NM_005687.5:c.1168C>G NP_005678.3:p.Gln390Glu NC_000002.12:222624273:G:C p.(Gln390Glu) NC_000002.12:222624273:G:C p.(Gln390Glu) NC_000002.12:222624273:G:C Identity +NM_001042683.3:c.4126G>C NP_001036148.2:p.Val1376Leu NC_000006.12:145919373:C:G p.(Val1376Leu) NC_000006.12:145919373:C:G p.(Val1376Leu) NC_000006.12:145919373:C:G Identity +NM_052905.4:c.3086T>C NP_443137.2:p.Ile1029Thr NC_000002.12:152640830:T:C p.(Ile1029Thr) NC_000002.12:152640830:T:C p.(Ile1029Thr) NC_000002.12:152640830:T:C Identity +NM_005215.4:c.3427G>A NP_005206.2:p.Gly1143Ser NC_000018.10:53459265:G:A p.(Gly1143Ser) NC_000018.10:53459265:G:A p.(Gly1143Ser) NC_000018.10:53459265:G:A Identity +NM_016512.5:c.179G>A NP_057596.1:p.Arg60Gln NC_000008.11:7462741:C:T p.(Arg60Gln) NC_000008.11:7462741:C:T p.(Arg60Gln) NC_000008.11:7462741:C:T Identity +NM_006734.4:c.4629G>A NP_006725.3:p.Met1543Ile NC_000006.12:142770109:C:T p.(Met1543Ile) NC_000006.12:142770109:C:T p.(Met1543Ile) NC_000006.12:142770109:C:T Identity +NM_001010870.3:c.710C>G NP_001010870.1:p.Pro237Arg NC_000006.12:46688837:C:G p.(Pro237Arg) NC_000006.12:46688837:C:G p.(Pro237Arg) NC_000006.12:46688837:C:G Identity +NM_014668.4:c.4322G>A NP_055483.2:p.Arg1441Gln NC_000002.12:11626976:G:A p.(Arg1441Gln) NC_000002.12:11626976:G:A p.(Arg1441Gln) NC_000002.12:11626976:G:A Identity +NM_001136506.2:c.191C>A NP_001129978.2:p.Thr64Asn NC_000011.10:63143588:G:T p.(Thr64Asn) NC_000011.10:63143588:G:T p.(Thr64Asn) NC_000011.10:63143588:G:T Identity +NM_014747.3:c.739C>T NP_055562.2:p.Arg247Cys NC_000001.11:40626704:G:A p.(Arg247Cys) NC_000001.11:40626704:G:A p.(Arg247Cys) NC_000001.11:40626704:G:A Identity +NM_001378328.1:c.5689G>A NP_001365257.1:p.Val1897Ile NC_000022.11:46397685:C:T p.(Val1897Ile) NC_000022.11:46397685:C:T p.(Val1897Ile) NC_000022.11:46397685:C:T Identity +NM_001317950.2:c.3352G>A NP_001304879.1:p.Gly1118Ser NC_000009.12:114347769:C:T p.(Gly1118Ser) NC_000009.12:114347769:C:T p.(Gly1118Ser) NC_000009.12:114347769:C:T Identity +NM_015188.2:c.638A>G NP_056003.1:p.Glu213Gly NC_000010.11:94403250:A:G p.(Glu213Gly) NC_000010.11:94403250:A:G p.(Glu213Gly) NC_000010.11:94403250:A:G Identity +NM_001242837.2:c.406G>A NP_001229766.1:p.Ala136Thr NC_000011.10:972187:G:A p.(Ala136Thr) NC_000011.10:972187:G:A p.(Ala136Thr) NC_000011.10:972187:G:A Identity +NM_001405103.1:c.134T>C NP_001392032.1:p.Met45Thr NC_000017.11:37596328:A:G p.(Met45Thr) NC_000017.11:37596328:A:G p.(Met45Thr) NC_000017.11:37596328:A:G Identity +NM_001145165.2:c.827C>T NP_001138637.1:p.Ala276Val NC_000019.10:3491573:G:A p.(Ala276Val) NC_000019.10:3491573:G:A p.(Ala276Val) NC_000019.10:3491573:G:A Identity +NM_001364858.1:c.404A>C NP_001351787.1:p.Glu135Ala NC_000007.14:4784988:A:C p.(Glu135Ala) NC_000007.14:4784988:A:C p.(Glu135Ala) NC_000007.14:4784988:A:C Identity +NM_000789.4:c.74A>T NP_000780.1:p.Gln25Leu NC_000017.11:63477167:A:T p.(Gln25Leu) NC_000017.11:63477167:A:T p.(Gln25Leu) NC_000017.11:63477167:A:T Identity +NM_001093755.2:c.870G>T NP_001087224.1:p.Arg290Ser NC_000005.10:65660869:G:T p.(Arg290Ser) NC_000005.10:65660869:G:T p.(Arg290Ser) NC_000005.10:65660869:G:T Identity +NM_017434.5:c.569G>C NP_059130.2:p.Arg190Pro NC_000015.10:45135546:G:C p.(Arg190Pro) NC_000015.10:45135546:G:C p.(Arg190Pro) NC_000015.10:45135546:G:C Identity +NM_014384.3:c.236G>A NP_055199.1:p.Arg79Gln NC_000011.10:134257112:G:A p.(Arg79Gln) NC_000011.10:134257112:G:A p.(Arg79Gln) NC_000011.10:134257112:G:A Identity +NM_001005492.1:c.685C>T NP_001005492.1:p.His229Tyr NC_000011.10:56177301:C:T p.(His229Tyr) NC_000011.10:56177301:C:T p.(His229Tyr) NC_000011.10:56177301:C:T Identity +NM_020787.4:c.1703C>G NP_065838.2:p.Ser568Cys NC_000017.11:16623182:G:C p.(Ser568Cys) NC_000017.11:16623182:G:C p.(Ser568Cys) NC_000017.11:16623182:G:C Identity +NM_002153.3:c.796C>G NP_002144.1:p.Leu266Val NC_000016.10:82091032:C:G p.(Leu266Val) NC_000016.10:82091032:C:G p.(Leu266Val) NC_000016.10:82091032:C:G Identity +NM_000743.5:c.151C>T NP_000734.2:p.Arg51Trp NC_000015.10:78618846:G:A p.(Arg51Trp) NC_000015.10:78618846:G:A p.(Arg51Trp) NC_000015.10:78618846:G:A Identity +NM_001272005.2:c.268A>T NP_001258934.1:p.Ser90Cys NC_000017.11:74941640:A:T p.(Ser90Cys) NC_000017.11:74941640:A:T p.(Ser90Cys) NC_000017.11:74941640:A:T Identity +NM_152628.4:c.274G>T NP_689841.3:p.Val92Leu NC_000008.11:100630373:C:A p.(Val92Leu) NC_000008.11:100630373:C:A p.(Val92Leu) NC_000008.11:100630373:C:A Identity +NM_006779.4:c.259C>T NP_006770.1:p.Arg87Cys NC_000011.10:65321156:C:T p.(Arg87Cys) NC_000011.10:65321156:C:T p.(Arg87Cys) NC_000011.10:65321156:C:T Identity +NM_001260491.2:c.929C>T NP_001247420.1:p.Thr310Met NC_000020.11:49864766:C:T p.(Thr310Met) NC_000020.11:49864766:C:T p.(Thr310Met) NC_000020.11:49864766:C:T Identity +NM_001135768.3:c.950C>T NP_001129240.1:p.Ala317Val NC_000019.10:44657868:C:T p.(Ala317Val) NC_000019.10:44657868:C:T p.(Ala317Val) NC_000019.10:44657868:C:T Identity +NM_016642.4:c.233G>A NP_057726.4:p.Arg78Gln NC_000015.10:41893044:C:T p.(Arg78Gln) NC_000015.10:41893044:C:T p.(Arg78Gln) NC_000015.10:41893044:C:T Identity +NM_052902.4:c.3149G>A NP_443134.3:p.Arg1050His NC_000002.12:219616074:G:A p.(Arg1050His) NC_000002.12:219616074:G:A p.(Arg1050His) NC_000002.12:219616074:G:A Identity +NM_001120.5:c.1037T>C NP_001111.3:p.Leu346Pro NC_000004.12:2931451:A:G p.(Leu346Pro) NC_000004.12:2931451:A:G p.(Leu346Pro) NC_000004.12:2931451:A:G Identity +NM_001303052.2:c.2414A>C NP_001289981.1:p.Asn805Thr NC_000002.12:1889346:T:G p.(Asn805Thr) NC_000002.12:1889346:T:G p.(Asn805Thr) NC_000002.12:1889346:T:G Identity +NM_001317002.2:c.535G>A NP_001303931.1:p.Val179Ile NC_000002.12:149214620:G:A p.(Val179Ile) NC_000002.12:149214620:G:A p.(Val179Ile) NC_000002.12:149214620:G:A Identity +NM_024837.4:c.1699T>C NP_079113.2:p.Phe567Leu NC_000015.10:49923437:A:G p.(Phe567Leu) NC_000015.10:49923437:A:G p.(Phe567Leu) NC_000015.10:49923437:A:G Identity +NM_001303137.2:c.995G>A NP_001290066.1:p.Ser332Asn NC_000013.11:24321760:G:A p.(Ser332Asn) NC_000013.11:24321760:G:A p.(Ser332Asn) NC_000013.11:24321760:G:A Identity +NM_012177.5:c.64A>G NP_036309.1:p.Ser22Gly NC_000006.12:152982895:T:C p.(Ser22Gly) NC_000006.12:152982895:T:C p.(Ser22Gly) NC_000006.12:152982895:T:C Identity +NM_001323971.2:c.41C>T NP_001310900.1:p.Ala14Val NC_000016.10:67249054:C:T p.(Ala14Val) NC_000016.10:67249054:C:T p.(Ala14Val) NC_000016.10:67249054:C:T Identity +NM_001297623.3:c.242C>T NP_001284552.1:p.Ser81Phe NC_000019.10:36640033:G:A p.(Ser81Phe) NC_000019.10:36640033:G:A p.(Ser81Phe) NC_000019.10:36640033:G:A Identity +NM_173628.4:c.4831G>C NP_775899.3:p.Asp1611His NC_000017.11:78505417:C:G p.(Asp1611His) NC_000017.11:78505417:C:G p.(Asp1611His) NC_000017.11:78505417:C:G Identity +NM_014315.3:c.694G>A NP_055130.1:p.Val232Met NC_000014.9:49779654:G:A p.(Val232Met) NC_000014.9:49779654:G:A p.(Val232Met) NC_000014.9:49779654:G:A Identity +NM_001381939.1:c.2506G>A NP_001368868.1:p.Asp836Asn NC_000006.12:169225237:C:T p.(Asp836Asn) NC_000006.12:169225237:C:T p.(Asp836Asn) NC_000006.12:169225237:C:T Identity +NM_001319035.2:c.925A>G NP_001305964.1:p.Arg309Gly NC_000014.9:20403393:T:C p.(Arg309Gly) NC_000014.9:20403393:T:C p.(Arg309Gly) NC_000014.9:20403393:T:C Identity +NM_024702.3:c.1715C>A NP_078978.2:p.Pro572Gln NC_000017.11:82830598:G:T p.(Pro572Gln) NC_000017.11:82830598:G:T p.(Pro572Gln) NC_000017.11:82830598:G:T Identity +NM_001099856.6:c.1315G>C NP_001093326.2:p.Ala439Pro NC_000023.11:154564013:G:C p.(Ala439Pro) NC_000023.11:154564013:G:C p.(Ala439Pro) NC_000023.11:154564013:G:C Identity +NM_001376763.1:c.966G>C NP_001363692.1:p.Gln322His NC_000001.11:178853644:C:G p.(Gln322His) NC_000001.11:178853644:C:G p.(Gln322His) NC_000001.11:178853644:C:G Identity +NM_003268.6:c.571G>A NP_003259.2:p.Glu191Lys NC_000001.11:223112460:C:T p.(Glu191Lys) NC_000001.11:223112460:C:T p.(Glu191Lys) NC_000001.11:223112460:C:T Identity +NM_001350929.2:c.8196C>G NP_001337858.1:p.Ile2732Met NC_000014.9:104946954:G:C p.(Ile2732Met) NC_000014.9:104946954:G:C p.(Ile2732Met) NC_000014.9:104946954:G:C Identity +NM_001377344.1:c.2300C>T NP_001364273.1:p.Thr767Met NC_000003.12:66383097:G:A p.(Thr767Met) NC_000003.12:66383097:G:A p.(Thr767Met) NC_000003.12:66383097:G:A Identity +NM_001145113.3:c.424T>C NP_001138585.2:p.Tyr142His NC_000017.11:81941317:A:G p.(Tyr142His) NC_000017.11:81941317:A:G p.(Tyr142His) NC_000017.11:81941317:A:G Identity +NM_001033714.3:c.859C>T NP_001028886.1:p.Leu287Phe NC_000012.12:6563331:G:A p.(Leu287Phe) NC_000012.12:6563331:G:A p.(Leu287Phe) NC_000012.12:6563331:G:A Identity +NM_001144950.2:c.2122C>T NP_001138422.1:p.Arg708Trp NC_000019.10:55500231:C:T p.(Arg708Trp) NC_000019.10:55500231:C:T p.(Arg708Trp) NC_000019.10:55500231:C:T Identity +NM_001243900.3:c.2248G>A NP_001230829.1:p.Val750Ile NC_000002.12:241239944:C:T p.(Val750Ile) NC_000002.12:241239944:C:T p.(Val750Ile) NC_000002.12:241239944:C:T Identity +NM_001256666.2:c.1268C>T NP_001243595.1:p.Thr423Ile NC_000004.12:2672181:C:T p.(Thr423Ile) NC_000004.12:2672181:C:T p.(Thr423Ile) NC_000004.12:2672181:C:T Identity +NM_005493.3:c.1436G>A NP_005484.2:p.Arg479Gln NC_000006.12:13639651:C:T p.(Arg479Gln) NC_000006.12:13639651:C:T p.(Arg479Gln) NC_000006.12:13639651:C:T Identity +NM_001002273.3:c.140C>A NP_001002273.1:p.Pro47Gln NC_000001.11:161671400:C:A p.(Pro47Gln) NC_000001.11:161671400:C:A p.(Pro47Gln) NC_000001.11:161671400:C:A Identity +NM_003129.4:c.1442A>T NP_003120.2:p.Asp481Val NC_000008.11:125018724:A:T p.(Asp481Val) NC_000008.11:125018724:A:T p.(Asp481Val) NC_000008.11:125018724:A:T Identity +NM_001042544.1:c.1949G>T NP_001036009.1:p.Gly650Val NC_000019.10:40610594:G:T p.(Gly650Val) NC_000019.10:40610594:G:T p.(Gly650Val) NC_000019.10:40610594:G:T Identity +NM_133448.3:c.772G>A NP_597705.2:p.Asp258Asn NC_000012.12:129700005:C:T p.(Asp258Asn) NC_000012.12:129700005:C:T p.(Asp258Asn) NC_000012.12:129700005:C:T Identity +NM_001136263.2:c.946G>C NP_001129735.1:p.Glu316Gln NC_000019.10:407415:C:G p.(Glu316Gln) NC_000019.10:407415:C:G p.(Glu316Gln) NC_000019.10:407415:C:G Identity +NM_001105538.2:c.625C>T NP_001099008.1:p.Leu209Phe NC_000017.11:4552562:G:A p.(Leu209Phe) NC_000017.11:4552562:G:A p.(Leu209Phe) NC_000017.11:4552562:G:A Identity +NM_001098816.3:c.5038G>A NP_001092286.2:p.Gly1680Ser NC_000011.10:78701574:C:T p.(Gly1680Ser) NC_000011.10:78701574:C:T p.(Gly1680Ser) NC_000011.10:78701574:C:T Identity +NM_005275.5:c.448C>T NP_005266.2:p.Arg150Trp NC_000006.12:30554843:G:A p.(Arg150Trp) NC_000006.12:30554843:G:A p.(Arg150Trp) NC_000006.12:30554843:G:A Identity +NM_032861.4:c.439A>C NP_116250.3:p.Thr147Pro NC_000006.12:158146829:T:G p.(Thr147Pro) NC_000006.12:158146829:T:G p.(Thr147Pro) NC_000006.12:158146829:T:G Identity +NM_001185156.1:c.596C>T NP_001172085.1:p.Thr199Ile NC_000001.11:206903030:C:T p.(Thr199Ile) NC_000001.11:206903030:C:T p.(Thr199Ile) NC_000001.11:206903030:C:T Identity +NM_001159322.2:c.253G>A NP_001152794.1:p.Val85Ile NC_000019.10:48104621:C:T p.(Val85Ile) NC_000019.10:48104621:C:T p.(Val85Ile) NC_000019.10:48104621:C:T Identity +NM_004279.3:c.973C>T NP_004270.2:p.Arg325Cys NC_000007.14:103309074:C:T p.(Arg325Cys) NC_000007.14:103309074:C:T p.(Arg325Cys) NC_000007.14:103309074:C:T Identity +NM_001082619.2:c.641C>T NP_001076088.1:p.Ala214Val NC_000011.10:112070607:G:A p.(Ala214Val) NC_000011.10:112070607:G:A p.(Ala214Val) NC_000011.10:112070607:G:A Identity +NM_152462.2:c.935C>T NP_689675.1:p.Ala312Val NC_000017.11:35193372:G:A p.(Ala312Val) NC_000017.11:35193372:G:A p.(Ala312Val) NC_000017.11:35193372:G:A Identity +NM_016544.3:c.628C>T NP_057628.1:p.Arg210Cys NC_000002.12:24951454:G:A p.(Arg210Cys) NC_000002.12:24951454:G:A p.(Arg210Cys) NC_000002.12:24951454:G:A Identity +NM_001004023.3:c.877C>T NP_001004023.1:p.Arg293Cys NC_000001.11:206648134:C:T p.(Arg293Cys) NC_000001.11:206648134:C:T p.(Arg293Cys) NC_000001.11:206648134:C:T Identity +NM_001005407.2:c.1231A>G NP_001005407.1:p.Ile411Val NC_000016.10:1201680:A:G p.(Ile411Val) NC_000016.10:1201680:A:G p.(Ile411Val) NC_000016.10:1201680:A:G Identity +NM_001130142.2:c.154G>T NP_001123614.1:p.Val52Leu NC_000011.10:124117782:G:T p.(Val52Leu) NC_000011.10:124117782:G:T p.(Val52Leu) NC_000011.10:124117782:G:T Identity +NM_001130167.2:c.471C>G NP_001123639.1:p.Asn157Lys NC_000019.10:42758239:G:C p.(Asn157Lys) NC_000019.10:42758239:G:C p.(Asn157Lys) NC_000019.10:42758239:G:C Identity +NM_001281520.2:c.173C>T NP_001268449.1:p.Ser58Leu NC_000020.11:5952447:C:T p.(Ser58Leu) NC_000020.11:5952447:C:T p.(Ser58Leu) NC_000020.11:5952447:C:T Identity +NM_020369.3:c.460C>T NP_065102.1:p.Arg154Cys NC_000007.14:127595621:C:T p.(Arg154Cys) NC_000007.14:127595621:C:T p.(Arg154Cys) NC_000007.14:127595621:C:T Identity +NM_001005340.2:c.1543T>C NP_001005340.1:p.Ser515Pro NC_000007.14:23273597:T:C p.(Ser515Pro) NC_000007.14:23273597:T:C p.(Ser515Pro) NC_000007.14:23273597:T:C Identity +NM_001178005.2:c.539C>T NP_001171476.1:p.Ala180Val NC_000005.10:79083323:C:T p.(Ala180Val) NC_000005.10:79083323:C:T p.(Ala180Val) NC_000005.10:79083323:C:T Identity +NM_006909.3:c.2516C>A NP_008840.1:p.Ser839Tyr NC_000005.10:81123686:C:A p.(Ser839Tyr) NC_000005.10:81123686:C:A p.(Ser839Tyr) NC_000005.10:81123686:C:A Identity +NM_001301010.3:c.937A>G NP_001287939.2:p.Ile313Val NC_000011.10:107525533:T:C p.(Ile313Val) NC_000011.10:107525533:T:C p.(Ile313Val) NC_000011.10:107525533:T:C Identity +NM_001351273.1:c.3203G>A NP_001338202.1:p.Arg1068Gln NC_000019.10:1466506:G:A p.(Arg1068Gln) NC_000019.10:1466506:G:A p.(Arg1068Gln) NC_000019.10:1466506:G:A Identity +NM_001077351.2:c.904C>T NP_001070819.1:p.Arg302Cys NC_000014.9:22904286:G:A p.(Arg302Cys) NC_000014.9:22904286:G:A p.(Arg302Cys) NC_000014.9:22904286:G:A Identity +NM_001242352.2:c.363G>T NP_001229281.1:p.Lys121Asn NC_000009.12:128469310:G:T p.(Lys121Asn) NC_000009.12:128469310:G:T p.(Lys121Asn) NC_000009.12:128469310:G:T Identity +NM_001105518.2:c.1346C>T NP_001098988.1:p.Ala449Val NC_000001.11:185184847:C:T p.(Ala449Val) NC_000001.11:185184847:C:T p.(Ala449Val) NC_000001.11:185184847:C:T Identity +NM_001012508.6:c.158C>T NP_001012526.2:p.Pro53Leu NC_000010.11:133423523:G:A p.(Pro53Leu) NC_000010.11:133423523:G:A p.(Pro53Leu) NC_000010.11:133423523:G:A Identity +NM_017758.4:c.335C>T NP_060228.3:p.Ser112Phe NC_000017.11:18184577:C:T p.(Ser112Phe) NC_000017.11:18184577:C:T p.(Ser112Phe) NC_000017.11:18184577:C:T Identity +NM_001256312.2:c.1132A>G NP_001243241.1:p.Met378Val NC_000008.11:98548061:T:C p.(Met378Val) NC_000008.11:98548061:T:C p.(Met378Val) NC_000008.11:98548061:T:C Identity +NM_001164623.3:c.1805C>G NP_001158095.1:p.Pro602Arg NC_000008.11:140544246:G:C p.(Pro602Arg) NC_000008.11:140544246:G:C p.(Pro602Arg) NC_000008.11:140544246:G:C Identity +NM_145257.5:c.196T>G NP_660300.3:p.Ser66Ala NC_000001.11:229342269:A:C p.(Ser66Ala) NC_000001.11:229342269:A:C p.(Ser66Ala) NC_000001.11:229342269:A:C Identity +NM_015180.6:c.20001C>G NP_055995.4:p.His6667Gln NC_000014.9:64221583:C:G p.(His6667Gln) NC_000014.9:64221583:C:G p.(His6667Gln) NC_000014.9:64221583:C:G Identity +NM_001363705.2:c.4330A>G NP_001350634.1:p.Ile1444Val NC_000006.12:42676133:A:G p.(Ile1444Val) NC_000006.12:42676133:A:G p.(Ile1444Val) NC_000006.12:42676133:A:G Identity +NM_001146197.3:c.2216C>G NP_001139669.1:p.Thr739Arg NC_000013.11:102748480:G:C p.(Thr739Arg) NC_000013.11:102748480:G:C p.(Thr739Arg) NC_000013.11:102748480:G:C Identity +NM_005963.4:c.547G>A NP_005954.3:p.Ala183Thr NC_000017.11:10514110:C:T p.(Ala183Thr) NC_000017.11:10514110:C:T p.(Ala183Thr) NC_000017.11:10514110:C:T Identity +NM_001410194.1:c.2143A>G NP_001397123.1:p.Lys715Glu NC_000002.12:108471774:A:G p.(Lys715Glu) NC_000002.12:108471774:A:G p.(Lys715Glu) NC_000002.12:108471774:A:G Identity +NM_015660.3:c.258C>A NP_056475.1:p.Asp86Glu NC_000007.14:150692543:C:A p.(Asp86Glu) NC_000007.14:150692543:C:A p.(Asp86Glu) NC_000007.14:150692543:C:A Identity +NM_015354.3:c.2038A>G NP_056169.1:p.Thr680Ala NC_000009.12:128984975:A:G p.(Thr680Ala) NC_000009.12:128984975:A:G p.(Thr680Ala) NC_000009.12:128984975:A:G Identity +NM_001170790.2:c.1042C>T NP_001164261.1:p.Arg348Cys NC_000012.12:53253555:C:T p.(Arg348Cys) NC_000012.12:53253555:C:T p.(Arg348Cys) NC_000012.12:53253555:C:T Identity +NM_001351277.2:c.1262C>T NP_001338206.1:p.Ala421Val NC_000010.11:825286:G:A p.(Ala421Val) NC_000010.11:825286:G:A p.(Ala421Val) NC_000010.11:825286:G:A Identity +NM_032414.3:c.74C>A NP_115790.1:p.Ala25Asp NC_000001.11:110453961:C:A p.(Ala25Asp) NC_000001.11:110453961:C:A p.(Ala25Asp) NC_000001.11:110453961:C:A Identity +NM_001105244.2:c.871G>A NP_001098714.1:p.Ala291Thr NC_000018.10:7955152:G:A p.(Ala291Thr) NC_000018.10:7955152:G:A p.(Ala291Thr) NC_000018.10:7955152:G:A Identity +NM_017584.6:c.529G>A NP_060054.4:p.Gly177Arg NC_000022.11:50489237:G:A p.(Gly177Arg) NC_000022.11:50489237:G:A p.(Gly177Arg) NC_000022.11:50489237:G:A Identity +NM_020242.3:c.3251G>A NP_064627.1:p.Gly1084Glu NC_000003.12:44838353:G:A p.(Gly1084Glu) NC_000003.12:44838353:G:A p.(Gly1084Glu) NC_000003.12:44838353:G:A Identity +NM_001365764.1:c.2761G>A NP_001352693.1:p.Gly921Ser NC_000007.14:6154314:G:A p.(Gly921Ser) NC_000007.14:6154314:G:A p.(Gly921Ser) NC_000007.14:6154314:G:A Identity +NM_001377321.1:c.2950G>C NP_001364250.1:p.Asp984His NC_000017.11:69174704:C:G p.(Asp984His) NC_000017.11:69174704:C:G p.(Asp984His) NC_000017.11:69174704:C:G Identity +NM_001159279.1:c.589C>G NP_001152751.1:p.Leu197Val NC_000007.14:57469049:C:G p.(Leu197Val) NC_000007.14:57469049:C:G p.(Leu197Val) NC_000007.14:57469049:C:G Identity +NM_001328635.2:c.29G>T NP_001315564.1:p.Arg10Met NC_000001.11:175403191:C:A p.(Arg10Met) NC_000001.11:175403191:C:A p.(Arg10Met) NC_000001.11:175403191:C:A Identity +NM_018928.3:c.118C>A NP_061751.1:p.Gln40Lys NC_000005.10:141485290:C:A p.(Gln40Lys) NC_000005.10:141485290:C:A p.(Gln40Lys) NC_000005.10:141485290:C:A Identity +NM_170743.4:c.194G>A NP_734464.1:p.Arg65His NC_000001.11:24169589:C:T p.(Arg65His) NC_000001.11:24169589:C:T p.(Arg65His) NC_000001.11:24169589:C:T Identity +NM_001347886.2:c.6872A>G NP_001334815.1:p.Lys2291Arg NC_000016.10:20987320:T:C p.(Lys2291Arg) NC_000016.10:20987320:T:C p.(Lys2291Arg) NC_000016.10:20987320:T:C Identity +NM_016433.4:c.374G>A NP_057517.1:p.Arg125His NC_000012.12:109855691:C:T p.(Arg125His) NC_000012.12:109855691:C:T p.(Arg125His) NC_000012.12:109855691:C:T Identity +NM_080571.2:c.421C>G NP_542138.1:p.Leu141Val NC_000020.11:279212:G:C p.(Leu141Val) NC_000020.11:279212:G:C p.(Leu141Val) NC_000020.11:279212:G:C Identity +NM_001309192.2:c.1240G>A NP_001296121.1:p.Val414Ile NC_000001.11:22865148:G:A p.(Val414Ile) NC_000001.11:22865148:G:A p.(Val414Ile) NC_000001.11:22865148:G:A Identity +NM_001081002.1:c.1339G>C NP_001074471.1:p.Glu447Gln NC_000014.9:76867412:G:C ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found ERR:AlignmentMapper(tx_ac=NM_001081002.1, alt_ac=NM_001081002.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001081002.1, alt_ac=NM_001081002.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found +NM_001258450.2:c.353C>T NP_001245379.1:p.Thr118Met NC_000016.10:2975630:G:A p.(Thr118Met) NC_000016.10:2975630:G:A p.(Thr118Met) NC_000016.10:2975630:G:A Identity +NM_018929.3:c.95G>A NP_061752.1:p.Arg32His NC_000005.10:141489334:G:A p.(Arg32His) NC_000005.10:141489334:G:A p.(Arg32His) NC_000005.10:141489334:G:A Identity +NM_020309.4:c.728G>A NP_064705.1:p.Ser243Asn NC_000019.10:49433864:C:T p.(Ser243Asn) NC_000019.10:49433864:C:T p.(Ser243Asn) NC_000019.10:49433864:C:T Identity +NM_001193282.4:c.1120A>C NP_001180211.2:p.Met374Leu NC_000004.12:2452304:A:C p.(Met374Leu) NC_000004.12:2452304:A:C p.(Met374Leu) NC_000004.12:2452304:A:C Identity +NM_001308330.2:c.3341G>A NP_001295259.1:p.Arg1114His NC_000003.12:121418450:G:A p.(Arg1114His) NC_000003.12:121418450:G:A p.(Arg1114His) NC_000003.12:121418450:G:A Identity +NM_020859.4:c.4850T>C NP_065910.3:p.Phe1617Ser NC_000004.12:76756588:T:C p.(Phe1617Ser) NC_000004.12:76756588:T:C p.(Phe1617Ser) NC_000004.12:76756588:T:C Identity +NM_178140.4:c.4814G>A NP_835260.2:p.Arg1605His NC_000005.10:32088261:G:A p.(Arg1605His) NC_000005.10:32088261:G:A p.(Arg1605His) NC_000005.10:32088261:G:A Identity +NM_001134285.3:c.17G>A NP_001127757.1:p.Arg6Gln NC_000001.11:216677461:C:T p.(Arg6Gln) NC_000001.11:216677461:C:T p.(Arg6Gln) NC_000001.11:216677461:C:T Identity +NM_001320044.2:c.2284A>G NP_001306973.1:p.Lys762Glu NC_000003.12:47417125:T:C p.(Lys762Glu) NC_000003.12:47417125:T:C p.(Lys762Glu) NC_000003.12:47417125:T:C Identity +NM_003265.3:c.2623T>A NP_003256.1:p.Cys875Ser NC_000004.12:186084780:T:A p.(Cys875Ser) NC_000004.12:186084780:T:A p.(Cys875Ser) NC_000004.12:186084780:T:A Identity +NM_171999.4:c.1934C>T NP_741996.2:p.Ala645Val NC_000018.10:78993924:C:T p.(Ala645Val) NC_000018.10:78993924:C:T p.(Ala645Val) NC_000018.10:78993924:C:T Identity +NM_001001694.3:c.89G>A NP_001001694.2:p.Arg30His NC_000022.11:50001101:C:T p.(Arg30His) NC_000022.11:50001101:C:T p.(Arg30His) NC_000022.11:50001101:C:T Identity +NM_001031719.3:c.440A>G NP_001026889.1:p.Asp147Gly NC_000013.11:51773957:T:C p.(Asp147Gly) NC_000013.11:51773957:T:C p.(Asp147Gly) NC_000013.11:51773957:T:C Identity +NM_001163435.3:c.1260G>T NP_001156907.2:p.Leu420Phe NC_000004.12:106236479:C:A p.(Leu420Phe) NC_000004.12:106236479:C:A p.(Leu420Phe) NC_000004.12:106236479:C:A Identity +NM_032683.3:c.395G>A NP_116072.2:p.Ser132Asn NC_000019.10:18194812:G:A p.(Ser132Asn) NC_000019.10:18194812:G:A p.(Ser132Asn) NC_000019.10:18194812:G:A Identity +NM_001326606.2:c.151A>G NP_001313535.1:p.Asn51Asp NC_000007.14:6015280:A:G p.(Asn51Asp) NC_000007.14:6015280:A:G p.(Asn51Asp) NC_000007.14:6015280:A:G Identity +NM_001330417.2:c.754C>G NP_001317346.2:p.Gln252Glu NC_000017.11:61911965:G:C p.(Gln252Glu) NC_000017.11:61911965:G:C p.(Gln252Glu) NC_000017.11:61911965:G:C Identity +NM_015695.3:c.2908C>T NP_056510.2:p.Arg970Cys NC_000006.12:36214304:C:T p.(Arg970Cys) NC_000006.12:36214304:C:T p.(Arg970Cys) NC_000006.12:36214304:C:T Identity +NM_001394011.1:c.2798C>T NP_001380940.1:p.Pro933Leu NC_000019.10:5222927:G:A p.(Pro933Leu) NC_000019.10:5222927:G:A p.(Pro933Leu) NC_000019.10:5222927:G:A Identity +NM_001128128.3:c.169G>A NP_001121600.1:p.Glu57Lys NC_000010.11:31461197:G:A p.(Glu57Lys) NC_000010.11:31461197:G:A p.(Glu57Lys) NC_000010.11:31461197:G:A Identity +NM_138733.5:c.538A>G NP_620061.2:p.Asn180Asp NC_000006.12:49786649:T:C p.(Asn180Asp) NC_000006.12:49786649:T:C p.(Asn180Asp) NC_000006.12:49786649:T:C Identity +NM_001039753.4:c.2242G>C NP_001034842.2:p.Gly748Arg NC_000002.12:54871502:G:C p.(Gly748Arg) NC_000002.12:54871502:G:C p.(Gly748Arg) NC_000002.12:54871502:G:C Identity +NM_182924.4:c.1455G>C NP_891554.1:p.Gln485His NC_000007.14:1442447:C:G p.(Gln485His) NC_000007.14:1442447:C:G p.(Gln485His) NC_000007.14:1442447:C:G Identity +NM_152679.4:c.940T>A NP_689892.1:p.Ser314Thr NC_000004.12:48488564:T:A p.(Ser314Thr) NC_000004.12:48488564:T:A p.(Ser314Thr) NC_000004.12:48488564:T:A Identity +NM_001135044.2:c.556G>A NP_001128516.1:p.Val186Met NC_000005.10:180249032:C:T p.(Val186Met) NC_000005.10:180249032:C:T p.(Val186Met) NC_000005.10:180249032:C:T Identity +NM_000228.3:c.3218G>A NP_000219.2:p.Ser1073Asn NC_000001.11:209617419:C:T p.(Ser1073Asn) NC_000001.11:209617419:C:T p.(Ser1073Asn) NC_000001.11:209617419:C:T Identity +NM_001371205.1:c.109C>T NP_001358134.1:p.Arg37Cys NC_000006.12:31970756:G:A p.(Arg37Cys) NC_000006.12:31970756:G:A p.(Arg37Cys) NC_000006.12:31970756:G:A Identity +NM_001007094.4:c.1352A>T NP_001007095.1:p.Tyr451Phe NC_000010.11:38118502:A:T p.(Tyr451Phe) NC_000010.11:38118502:A:T p.(Tyr451Phe) NC_000010.11:38118502:A:T Identity +NM_001363887.1:c.910C>T NP_001350816.1:p.Arg304Cys NC_000003.12:197830791:C:T p.(Arg304Cys) NC_000003.12:197830791:C:T p.(Arg304Cys) NC_000003.12:197830791:C:T Identity +NM_006931.3:c.1127T>G NP_008862.1:p.Phe376Cys NC_000012.12:7922965:A:C p.(Phe376Cys) NC_000012.12:7922965:A:C p.(Phe376Cys) NC_000012.12:7922965:A:C Identity +NM_001260502.2:c.1501C>T NP_001247431.1:p.His501Tyr NC_000017.11:76040459:G:A p.(His501Tyr) NC_000017.11:76040459:G:A p.(His501Tyr) NC_000017.11:76040459:G:A Identity +NM_001136201.2:c.350A>C NP_001129673.1:p.Asn117Thr NC_000019.10:55455328:T:G p.(Asn117Thr) NC_000019.10:55455328:T:G p.(Asn117Thr) NC_000019.10:55455328:T:G Identity +NM_001009899.4:c.1807C>G NP_001009899.3:p.Arg603Gly NC_000003.12:113659874:G:C p.(Arg603Gly) NC_000003.12:113659874:G:C p.(Arg603Gly) NC_000003.12:113659874:G:C Identity +NM_001017919.2:c.1102G>A NP_001017919.1:p.Val368Met NC_000015.10:90961739:G:A p.(Val368Met) NC_000015.10:90961739:G:A p.(Val368Met) NC_000015.10:90961739:G:A Identity +NM_015656.2:c.2443G>A NP_056471.1:p.Val815Met NC_000014.9:104175230:G:A p.(Val815Met) NC_000014.9:104175230:G:A p.(Val815Met) NC_000014.9:104175230:G:A Identity +NM_001135021.2:c.305T>A NP_001128493.1:p.Ile102Asn NC_000002.12:85369774:T:A p.(Ile102Asn) NC_000002.12:85369774:T:A p.(Ile102Asn) NC_000002.12:85369774:T:A Identity +NM_001074.4:c.187C>A NP_001065.2:p.Leu63Ile NC_000004.12:69096706:C:A p.(Leu63Ile) NC_000004.12:69096706:C:A p.(Leu63Ile) NC_000004.12:69096706:C:A Identity +NM_007346.4:c.1154G>A NP_031372.2:p.Arg385Lys NC_000020.11:62812768:G:A p.(Arg385Lys) NC_000020.11:62812768:G:A p.(Arg385Lys) NC_000020.11:62812768:G:A Identity +NM_001099289.3:c.1924C>A NP_001092759.1:p.Leu642Ile NC_000002.12:109449264:C:A p.(Leu642Ile) NC_000002.12:109449264:C:A p.(Leu642Ile) NC_000002.12:109449264:C:A Identity +NM_000092.5:c.3120C>A NP_000083.3:p.Phe1040Leu NC_000002.12:227051006:G:T p.(Phe1040Leu) NC_000002.12:227051006:G:T p.(Phe1040Leu) NC_000002.12:227051006:G:T Identity +NM_004884.4:c.1115C>T NP_004875.2:p.Pro372Leu NC_000015.10:65331973:G:A p.(Pro372Leu) NC_000015.10:65331973:G:A p.(Pro372Leu) NC_000015.10:65331973:G:A Identity +NM_182894.3:c.929G>C NP_878314.1:p.Arg310Pro NC_000014.9:74260761:G:C p.(Arg310Pro) NC_000014.9:74260761:G:C p.(Arg310Pro) NC_000014.9:74260761:G:C Identity +NM_014630.3:c.3572C>T NP_055445.2:p.Ala1191Val NC_000015.10:84802160:C:T p.(Ala1191Val) NC_000015.10:84802160:C:T p.(Ala1191Val) NC_000015.10:84802160:C:T Identity +NM_001300960.2:c.1117G>A NP_001287889.1:p.Gly373Arg NC_000006.12:110621231:C:T p.(Gly373Arg) NC_000006.12:110621231:C:T p.(Gly373Arg) NC_000006.12:110621231:C:T Identity +NM_001172435.2:c.2858C>T NP_001165906.1:p.Pro953Leu NC_000002.12:135168671:C:T p.(Pro953Leu) NC_000002.12:135168671:C:T p.(Pro953Leu) NC_000002.12:135168671:C:T Identity +NM_001363185.1:c.9517A>G NP_001350114.1:p.Ser3173Gly NC_000008.11:112247124:T:C p.(Ser3173Gly) NC_000008.11:112247124:T:C p.(Ser3173Gly) NC_000008.11:112247124:T:C Identity +NM_001291807.3:c.79C>G NP_001278736.1:p.Arg27Gly NC_000002.12:162242919:G:C p.(Arg27Gly) NC_000002.12:162242919:G:C p.(Arg27Gly) NC_000002.12:162242919:G:C Identity +NM_001316964.2:c.436G>A NP_001303893.1:p.Gly146Ser NC_000008.11:22139042:C:T p.(Gly146Ser) NC_000008.11:22139042:C:T p.(Gly146Ser) NC_000008.11:22139042:C:T Identity +NM_015168.2:c.2761C>T NP_055983.1:p.Pro921Ser NC_000019.10:47067506:G:A p.(Pro921Ser) NC_000019.10:47067506:G:A p.(Pro921Ser) NC_000019.10:47067506:G:A Identity +NM_001110514.2:c.1537G>T NP_001103984.2:p.Gly513Trp NC_000020.11:2752148:G:T p.(Gly513Trp) NC_000020.11:2752148:G:T p.(Gly513Trp) NC_000020.11:2752148:G:T Identity +NM_001320373.3:c.1094G>T NP_001307302.1:p.Gly365Val NC_000003.12:184238333:G:T p.(Gly365Val) NC_000003.12:184238333:G:T p.(Gly365Val) NC_000003.12:184238333:G:T Identity +NM_001371223.1:c.1447T>A NP_001358152.1:p.Cys483Ser NC_000009.12:37737140:T:A p.(Cys483Ser) NC_000009.12:37737140:T:A p.(Cys483Ser) NC_000009.12:37737140:T:A Identity +NM_001146256.2:c.880T>A NP_001139728.1:p.Ser294Thr NC_000023.11:75417146:A:T p.(Ser294Thr) NC_000023.11:75417146:A:T p.(Ser294Thr) NC_000023.11:75417146:A:T Identity +NM_001005922.1:c.691G>A NP_001005922.1:p.Gly231Arg NC_000011.10:1584558:C:T p.(Gly231Arg) NC_000011.10:1584558:C:T p.(Gly231Arg) NC_000011.10:1584558:C:T Identity +NM_001379611.1:c.2099C>A NP_001366540.1:p.Thr700Asn NC_000004.12:110548273:C:A p.(Thr700Asn) NC_000004.12:110548273:C:A p.(Thr700Asn) NC_000004.12:110548273:C:A Identity +NM_001322253.2:c.3836C>T NP_001309182.1:p.Ala1279Val NC_000003.12:51662851:C:T p.(Ala1279Val) NC_000003.12:51662851:C:T p.(Ala1279Val) NC_000003.12:51662851:C:T Identity +NM_001289987.3:c.140G>A NP_001276916.1:p.Arg47Lys NC_000006.12:75414841:C:T p.(Arg47Lys) NC_000006.12:75414841:C:T p.(Arg47Lys) NC_000006.12:75414841:C:T Identity +NM_138287.3:c.335C>T NP_612144.1:p.Pro112Leu NC_000003.12:122566005:C:T p.(Pro112Leu) NC_000003.12:122566005:C:T p.(Pro112Leu) NC_000003.12:122566005:C:T Identity +NM_004140.4:c.2864G>A NP_004131.4:p.Arg955His NC_000017.11:18241980:G:A p.(Arg955His) NC_000017.11:18241980:G:A p.(Arg955His) NC_000017.11:18241980:G:A Identity +NM_001144060.2:c.4415A>G NP_001137532.1:p.Asn1472Ser NC_000006.12:138424486:T:C p.(Asn1472Ser) NC_000006.12:138424486:T:C p.(Asn1472Ser) NC_000006.12:138424486:T:C Identity +NM_001146015.2:c.1943C>G NP_001139487.1:p.Ser648Cys NC_000014.9:55154736:G:C p.(Ser648Cys) NC_000014.9:55154736:G:C p.(Ser648Cys) NC_000014.9:55154736:G:C Identity +NM_022095.4:c.3389G>C NP_071378.1:p.Gly1130Ala NC_000020.11:45950316:C:G p.(Gly1130Ala) NC_000020.11:45950316:C:G p.(Gly1130Ala) NC_000020.11:45950316:C:G Identity +NM_001256482.2:c.545G>A NP_001243411.1:p.Ser182Asn NC_000008.11:27511878:G:A p.(Ser182Asn) NC_000008.11:27511878:G:A p.(Ser182Asn) NC_000008.11:27511878:G:A Identity +NM_001307944.1:c.138G>C NP_001294873.1:p.Arg46Ser NC_000023.11:75274391:G:C p.(Arg46Ser) NC_000023.11:75274391:G:C p.(Arg46Ser) NC_000023.11:75274391:G:C Identity +NM_001301188.1:c.416G>A NP_001288117.1:p.Arg139Gln NC_000020.11:391410:G:A p.(Arg139Gln) NC_000020.11:391410:G:A p.(Arg139Gln) NC_000020.11:391410:G:A Identity +NM_130466.4:c.1871G>A NP_569733.2:p.Ser624Asn NC_000012.12:109511217:G:A p.(Ser624Asn) NC_000012.12:109511217:G:A p.(Ser624Asn) NC_000012.12:109511217:G:A Identity +NM_016642.4:c.7040C>T NP_057726.4:p.Ala2347Val NC_000015.10:41863812:G:A p.(Ala2347Val) NC_000015.10:41863812:G:A p.(Ala2347Val) NC_000015.10:41863812:G:A Identity +NM_001282143.2:c.2498G>A NP_001269072.1:p.Arg833His NC_000011.10:119182236:G:A p.(Arg833His) NC_000011.10:119182236:G:A p.(Arg833His) NC_000011.10:119182236:G:A Identity +NM_001161368.3:c.987T>G NP_001154840.1:p.Ser329Arg NC_000022.11:30491666:A:C p.(Ser329Arg) NC_000022.11:30491666:A:C p.(Ser329Arg) NC_000022.11:30491666:A:C Identity +NM_001111307.2:c.1282G>A NP_001104777.1:p.Ala428Thr NC_000019.10:10459675:G:A p.(Ala428Thr) NC_000019.10:10459675:G:A p.(Ala428Thr) NC_000019.10:10459675:G:A Identity +NM_152349.3:c.209A>T NP_689562.1:p.Glu70Val NC_000017.11:40661931:T:A p.(Glu70Val) NC_000017.11:40661931:T:A p.(Glu70Val) NC_000017.11:40661931:T:A Identity +NM_015086.2:c.526C>G NP_055901.2:p.Arg176Gly NC_000012.12:48998349:G:C p.(Arg176Gly) NC_000012.12:48998349:G:C p.(Arg176Gly) NC_000012.12:48998349:G:C Identity +NM_000713.3:c.178G>A NP_000704.1:p.Asp60Asn NC_000019.10:40458446:C:T p.(Asp60Asn) NC_000019.10:40458446:C:T p.(Asp60Asn) NC_000019.10:40458446:C:T Identity +NM_001145211.3:c.1393C>T NP_001138683.1:p.Pro465Ser NC_000011.10:75196538:C:T p.(Pro465Ser) NC_000011.10:75196538:C:T p.(Pro465Ser) NC_000011.10:75196538:C:T Identity +NM_021258.4:c.130G>A NP_067081.2:p.Gly44Arg NC_000001.11:24138627:C:T p.(Gly44Arg) NC_000001.11:24138627:C:T p.(Gly44Arg) NC_000001.11:24138627:C:T Identity +NM_001164690.2:c.1378G>T NP_001158162.1:p.Gly460Ter NC_000012.12:53430238:G:T p.(Gly460Ter) NC_000012.12:53430238:G:T p.(Gly460Ter) NC_000012.12:53430238:G:T Identity +NM_017870.4:c.865C>T NP_060340.2:p.Arg289Trp NC_000011.10:60928958:C:T p.(Arg289Trp) NC_000011.10:60928958:C:T p.(Arg289Trp) NC_000011.10:60928958:C:T Identity +NM_005245.4:c.8468C>T NP_005236.2:p.Pro2823Leu NC_000004.12:186618117:G:A p.(Pro2823Leu) NC_000004.12:186618117:G:A p.(Pro2823Leu) NC_000004.12:186618117:G:A Identity +NM_001102657.3:c.1360C>T NP_001096127.1:p.Arg454Cys NC_000019.10:52156322:G:A p.(Arg454Cys) NC_000019.10:52156322:G:A p.(Arg454Cys) NC_000019.10:52156322:G:A Identity +NM_012162.4:c.1001G>A NP_036294.2:p.Arg334Gln NC_000008.11:144356523:C:T p.(Arg334Gln) NC_000008.11:144356523:C:T p.(Arg334Gln) NC_000008.11:144356523:C:T Identity +NM_003323.3:c.187G>C NP_003314.2:p.Glu63Gln NC_000019.10:48896453:C:G p.(Glu63Gln) NC_000019.10:48896453:C:G p.(Glu63Gln) NC_000019.10:48896453:C:G Identity +NM_080725.3:c.59A>G NP_542763.1:p.Glu20Gly NC_000020.11:653126:T:C p.(Glu20Gly) NC_000020.11:653126:T:C p.(Glu20Gly) NC_000020.11:653126:T:C Identity +NM_001363648.2:c.652G>C NP_001350577.1:p.Asp218His NC_000011.10:63914283:C:G p.(Asp218His) NC_000011.10:63914283:C:G p.(Asp218His) NC_000011.10:63914283:C:G Identity +NM_001093.4:c.3368G>A NP_001084.3:p.Arg1123His NC_000012.12:109216634:G:A p.(Arg1123His) NC_000012.12:109216634:G:A p.(Arg1123His) NC_000012.12:109216634:G:A Identity +NM_001394531.1:c.5561G>A NP_001381460.1:p.Gly1854Asp NC_000010.11:48820288:G:A p.(Gly1854Asp) NC_000010.11:48820288:G:A p.(Gly1854Asp) NC_000010.11:48820288:G:A Identity +NM_138817.3:c.619C>A NP_620172.2:p.Leu207Ile NC_000008.11:86229658:G:T p.(Leu207Ile) NC_000008.11:86229658:G:T p.(Leu207Ile) NC_000008.11:86229658:G:T Identity +NM_001134434.1:c.71G>A NP_001127906.1:p.Gly24Asp NC_000010.11:72088257:C:T p.(Gly24Asp) NC_000010.11:72088257:C:T p.(Gly24Asp) NC_000010.11:72088257:C:T Identity +NM_001291285.3:c.11528A>T NP_001278214.1:p.Glu3843Val NC_000004.12:125452537:A:T p.(Glu3843Val) NC_000004.12:125452537:A:T p.(Glu3843Val) NC_000004.12:125452537:A:T Identity +NM_018310.4:c.1229A>G NP_060780.2:p.Gln410Arg NC_000008.11:37844520:T:C p.(Gln410Arg) NC_000008.11:37844520:T:C p.(Gln410Arg) NC_000008.11:37844520:T:C Identity +NM_006982.3:c.145T>A NP_008913.2:p.Cys49Ser NC_000012.12:85280405:T:A p.(Cys49Ser) NC_000012.12:85280405:T:A p.(Cys49Ser) NC_000012.12:85280405:T:A Identity +NM_001306082.2:c.728C>T NP_001293011.1:p.Ala243Val NC_000004.12:5460187:C:T p.(Ala243Val) NC_000004.12:5460187:C:T p.(Ala243Val) NC_000004.12:5460187:C:T Identity +NM_001135686.3:c.709C>G NP_001129158.2:p.Leu237Val NC_000019.10:54070109:G:C p.(Leu237Val) NC_000019.10:54070109:G:C p.(Leu237Val) NC_000019.10:54070109:G:C Identity +NM_001321041.2:c.583G>A NP_001307970.1:p.Val195Met NC_000015.10:89480347:C:T p.(Val195Met) NC_000015.10:89480347:C:T p.(Val195Met) NC_000015.10:89480347:C:T Identity +NM_001198899.2:c.1876A>G NP_001185828.1:p.Met626Val NC_000001.11:155660000:T:C p.(Met626Val) NC_000001.11:155660000:T:C p.(Met626Val) NC_000001.11:155660000:T:C Identity +NM_014011.5:c.941G>A NP_054730.1:p.Ser314Asn NC_000002.12:46759470:G:A p.(Ser314Asn) NC_000002.12:46759470:G:A p.(Ser314Asn) NC_000002.12:46759470:G:A Identity +NM_001136031.3:c.1363C>T NP_001129503.2:p.Arg455Cys NC_000003.12:11358495:C:T p.(Arg455Cys) NC_000003.12:11358495:C:T p.(Arg455Cys) NC_000003.12:11358495:C:T Identity +NM_015346.4:c.4168A>G NP_056161.2:p.Asn1390Asp NC_000014.9:67782983:T:C p.(Asn1390Asp) NC_000014.9:67782983:T:C p.(Asn1390Asp) NC_000014.9:67782983:T:C Identity +NM_004214.5:c.1055T>G NP_004205.2:p.Leu352Arg NC_000011.10:65883992:A:C p.(Leu352Arg) NC_000011.10:65883992:A:C p.(Leu352Arg) NC_000011.10:65883992:A:C Identity +NM_001198810.2:c.1485G>T NP_001185739.1:p.Gln495His NC_000011.10:57487142:C:A p.(Gln495His) NC_000011.10:57487142:C:A p.(Gln495His) NC_000011.10:57487142:C:A Identity +NM_021138.4:c.8C>T NP_066961.2:p.Ala3Val NC_000009.12:136898747:C:T p.(Ala3Val) NC_000009.12:136898747:C:T p.(Ala3Val) NC_000009.12:136898747:C:T Identity +NM_001143757.2:c.1370A>C NP_001137229.1:p.Gln457Pro NC_000010.11:132365503:A:C p.(Gln457Pro) NC_000010.11:132365503:A:C p.(Gln457Pro) NC_000010.11:132365503:A:C Identity +NM_001243088.2:c.1870C>T NP_001230017.1:p.Pro624Ser NC_000012.12:2859014:G:A p.(Pro624Ser) NC_000012.12:2859014:G:A p.(Pro624Ser) NC_000012.12:2859014:G:A Identity +NM_017752.3:c.1958T>A NP_060222.2:p.Leu653His NC_000023.11:106850144:T:A p.(Leu653His) NC_000023.11:106850144:T:A p.(Leu653His) NC_000023.11:106850144:T:A Identity +NM_212550.5:c.275A>C NP_997715.1:p.Glu92Ala NC_000019.10:45179570:A:C p.(Glu92Ala) NC_000019.10:45179570:A:C p.(Glu92Ala) NC_000019.10:45179570:A:C Identity +NM_001145346.2:c.1582G>A NP_001138818.1:p.Asp528Asn NC_000023.11:115191022:G:A p.(Asp528Asn) NC_000023.11:115191022:G:A p.(Asp528Asn) NC_000023.11:115191022:G:A Identity +NM_016023.5:c.172G>A NP_057107.4:p.Glu58Lys NC_000008.11:91071226:G:A p.(Glu58Lys) NC_000008.11:91071226:G:A p.(Glu58Lys) NC_000008.11:91071226:G:A Identity +NM_001321116.2:c.727C>T NP_001308045.1:p.Pro243Ser NC_000019.10:58338576:C:T p.(Pro243Ser) NC_000019.10:58338576:C:T p.(Pro243Ser) NC_000019.10:58338576:C:T Identity +NM_001039.4:c.1688G>A NP_001030.2:p.Arg563His NC_000016.10:23215206:G:A p.(Arg563His) NC_000016.10:23215206:G:A p.(Arg563His) NC_000016.10:23215206:G:A Identity +NM_001008747.2:c.860C>A NP_001008747.1:p.Thr287Lys NC_000007.14:143572676:C:A p.(Thr287Lys) NC_000007.14:143572676:C:A p.(Thr287Lys) NC_000007.14:143572676:C:A Identity +NM_152723.3:c.853G>A NP_689936.1:p.Val285Met NC_000011.10:85685277:C:T p.(Val285Met) NC_000011.10:85685277:C:T p.(Val285Met) NC_000011.10:85685277:C:T Identity +NM_001012756.3:c.401A>C NP_001012774.1:p.Lys134Thr NC_000019.10:36514837:T:G p.(Lys134Thr) NC_000019.10:36514837:T:G p.(Lys134Thr) NC_000019.10:36514837:T:G Identity +NM_001240.4:c.1655G>A NP_001231.2:p.Ser552Asn NC_000012.12:48693558:C:T p.(Ser552Asn) NC_000012.12:48693558:C:T p.(Ser552Asn) NC_000012.12:48693558:C:T Identity +NM_020245.5:c.2705G>A NP_064630.2:p.Arg902Gln NC_000006.12:158502367:G:A p.(Arg902Gln) NC_000006.12:158502367:G:A p.(Arg902Gln) NC_000006.12:158502367:G:A Identity +NM_001323599.2:c.4264G>A NP_001310528.1:p.Val1422Ile NC_000010.11:29480719:C:T p.(Val1422Ile) NC_000010.11:29480719:C:T p.(Val1422Ile) NC_000010.11:29480719:C:T Identity +NM_001316745.2:c.50G>A NP_001303674.1:p.Ser17Asn NC_000002.12:179049891:C:T p.(Ser17Asn) NC_000002.12:179049891:C:T p.(Ser17Asn) NC_000002.12:179049891:C:T Identity +NM_001190880.3:c.263A>G NP_001177809.1:p.Glu88Gly NC_000001.11:43453433:T:C p.(Glu88Gly) NC_000001.11:43453433:T:C p.(Glu88Gly) NC_000001.11:43453433:T:C Identity +NM_001134440.2:c.349C>T NP_001127912.1:p.Arg117Cys NC_000003.12:44721165:C:T p.(Arg117Cys) NC_000003.12:44721165:C:T p.(Arg117Cys) NC_000003.12:44721165:C:T Identity +NM_001286527.3:c.2713C>T NP_001273456.2:p.Leu905Phe NC_000016.10:84462032:C:T p.(Leu905Phe) NC_000016.10:84462032:C:T p.(Leu905Phe) NC_000016.10:84462032:C:T Identity +NM_014234.5:c.112G>A NP_055049.1:p.Val38Ile NC_000006.12:33204960:G:A p.(Val38Ile) NC_000006.12:33204960:G:A p.(Val38Ile) NC_000006.12:33204960:G:A Identity +NM_001136033.3:c.1160G>T NP_001129505.1:p.Arg387Leu NC_000008.11:143817000:C:A p.(Arg387Leu) NC_000008.11:143817000:C:A p.(Arg387Leu) NC_000008.11:143817000:C:A Identity +NM_001080492.2:c.1078G>A NP_001073961.1:p.Gly360Ser NC_000016.10:58280333:C:T p.(Gly360Ser) NC_000016.10:58280333:C:T p.(Gly360Ser) NC_000016.10:58280333:C:T Identity +NM_001303512.2:c.169C>T NP_001290441.1:p.Arg57Trp NC_000023.11:153808486:G:A p.(Arg57Trp) NC_000023.11:153808486:G:A p.(Arg57Trp) NC_000023.11:153808486:G:A Identity +NM_001414174.1:c.5945C>T NP_001401103.1:p.Ala1982Val NC_000012.12:26483761:G:A p.(Ala1982Val) NC_000012.12:26483761:G:A p.(Ala1982Val) NC_000012.12:26483761:G:A Identity +NM_014011.5:c.244T>G NP_054730.1:p.Cys82Gly NC_000002.12:46758773:T:G p.(Cys82Gly) NC_000002.12:46758773:T:G p.(Cys82Gly) NC_000002.12:46758773:T:G Identity +NM_002591.4:c.761T>G NP_002582.3:p.Leu254Arg NC_000020.11:57563177:T:G p.(Leu254Arg) NC_000020.11:57563177:T:G p.(Leu254Arg) NC_000020.11:57563177:T:G Identity +NM_014649.3:c.2267C>T NP_055464.1:p.Ala756Val NC_000019.10:5592827:G:A p.(Ala756Val) NC_000019.10:5592827:G:A p.(Ala756Val) NC_000019.10:5592827:G:A Identity +NM_001098535.1:c.398C>G NP_001092005.1:p.Thr133Arg NC_000022.11:32360275:C:G p.(Thr133Arg) NC_000022.11:32360275:C:G p.(Thr133Arg) NC_000022.11:32360275:C:G Identity +NM_001004469.1:c.538A>G NP_001004469.1:p.Ile180Val NC_000001.11:159535469:T:C p.(Ile180Val) NC_000001.11:159535469:T:C p.(Ile180Val) NC_000001.11:159535469:T:C Identity +NM_000386.4:c.689C>T NP_000377.1:p.Thr230Ile NC_000017.11:30274153:G:A p.(Thr230Ile) NC_000017.11:30274153:G:A p.(Thr230Ile) NC_000017.11:30274153:G:A Identity +NM_016240.3:c.1435G>A NP_057324.2:p.Gly479Ser NC_000008.11:27670964:G:A p.(Gly479Ser) NC_000008.11:27670964:G:A p.(Gly479Ser) NC_000008.11:27670964:G:A Identity +NM_001079910.2:c.41C>T NP_001073379.1:p.Ala14Val NC_000012.12:85038216:C:T p.(Ala14Val) NC_000012.12:85038216:C:T p.(Ala14Val) NC_000012.12:85038216:C:T Identity +NM_001112800.4:c.2239A>G NP_001106271.1:p.Ile747Val NC_000002.12:40160779:T:C p.(Ile747Val) NC_000002.12:40160779:T:C p.(Ile747Val) NC_000002.12:40160779:T:C Identity +NM_001297649.2:c.385G>A NP_001284578.1:p.Gly129Arg NC_000011.10:2396663:G:A p.(Gly129Arg) NC_000011.10:2396663:G:A p.(Gly129Arg) NC_000011.10:2396663:G:A Identity +NM_015975.5:c.106A>G NP_057059.2:p.Ile36Val NC_000023.11:78138869:T:C p.(Ile36Val) NC_000023.11:78138869:T:C p.(Ile36Val) NC_000023.11:78138869:T:C Identity +NM_201628.3:c.1345G>A NP_963922.2:p.Gly449Ser NC_000001.11:15094301:G:A p.(Gly449Ser) NC_000001.11:15094301:G:A p.(Gly449Ser) NC_000001.11:15094301:G:A Identity +NM_152372.4:c.971C>T NP_689585.3:p.Thr324Ile NC_000001.11:24093065:G:A p.(Thr324Ile) NC_000001.11:24093065:G:A p.(Thr324Ile) NC_000001.11:24093065:G:A Identity +NM_001282959.2:c.2135C>T NP_001269888.1:p.Pro712Leu NC_000010.11:68765960:C:T p.(Pro712Leu) NC_000010.11:68765960:C:T p.(Pro712Leu) NC_000010.11:68765960:C:T Identity +NM_001277742.2:c.1284G>T NP_001264671.1:p.Glu428Asp NC_000002.12:72132256:C:A p.(Glu428Asp) NC_000002.12:72132256:C:A p.(Glu428Asp) NC_000002.12:72132256:C:A Identity +NM_001109662.4:c.9749G>C NP_001103132.4:p.Gly3250Ala NC_000012.12:112185246:C:G p.(Gly3250Ala) NC_000012.12:112185246:C:G p.(Gly3250Ala) NC_000012.12:112185246:C:G Identity +NM_005275.5:c.1537C>T NP_005266.2:p.Arg513Cys NC_000006.12:30546740:G:A p.(Arg513Cys) NC_000006.12:30546740:G:A p.(Arg513Cys) NC_000006.12:30546740:G:A Identity +NM_001002909.4:c.2225C>G NP_001002909.1:p.Ala742Gly NC_000017.11:44399851:G:C p.(Ala742Gly) NC_000017.11:44399851:G:C p.(Ala742Gly) NC_000017.11:44399851:G:C Identity +NM_001195555.2:c.737C>T NP_001182484.1:p.Pro246Leu NC_000005.10:157806070:G:A p.(Pro246Leu) NC_000005.10:157806070:G:A p.(Pro246Leu) NC_000005.10:157806070:G:A Identity +NM_020242.3:c.292A>G NP_064627.1:p.Met98Val NC_000003.12:44778159:A:G p.(Met98Val) NC_000003.12:44778159:A:G p.(Met98Val) NC_000003.12:44778159:A:G Identity +NM_001098202.1:c.1889G>A NP_001091672.1:p.Gly630Glu NC_000017.11:2058521:G:A p.(Gly630Glu) NC_000017.11:2058521:G:A p.(Gly630Glu) NC_000017.11:2058521:G:A Identity +NM_001190411.2:c.818G>T NP_001177340.1:p.Gly273Val NC_000017.11:215711:C:A p.(Gly273Val) NC_000017.11:215711:C:A p.(Gly273Val) NC_000017.11:215711:C:A Identity +NM_001308197.2:c.547A>G NP_001295126.1:p.Ile183Val NC_000003.12:156543252:T:C p.(Ile183Val) NC_000003.12:156543252:T:C p.(Ile183Val) NC_000003.12:156543252:T:C Identity +NM_001331078.2:c.1318G>C NP_001318007.1:p.Asp440His NC_000003.12:113460733:C:G p.(Asp440His) NC_000003.12:113460733:C:G p.(Asp440His) NC_000003.12:113460733:C:G Identity +NM_197965.3:c.392C>A NP_932069.1:p.Thr131Asn NC_000004.12:86833409:G:T p.(Thr131Asn) NC_000004.12:86833409:G:T p.(Thr131Asn) NC_000004.12:86833409:G:T Identity +NM_001143957.3:c.346A>G NP_001137429.1:p.Ile116Val NC_000006.12:96799385:T:C p.(Ile116Val) NC_000006.12:96799385:T:C p.(Ile116Val) NC_000006.12:96799385:T:C Identity +NM_006943.4:c.43C>T NP_008874.2:p.Pro15Ser NC_000020.11:325966:C:T p.(Pro15Ser) NC_000020.11:325966:C:T p.(Pro15Ser) NC_000020.11:325966:C:T Identity +NM_001218.5:c.184A>C NP_001209.1:p.Ser62Arg NC_000015.10:63346631:T:G p.(Ser62Arg) NC_000015.10:63346631:T:G p.(Ser62Arg) NC_000015.10:63346631:T:G Identity +NM_001308225.2:c.1975G>A NP_001295154.1:p.Val659Ile NC_000018.10:25225282:C:T p.(Val659Ile) NC_000018.10:25225282:C:T p.(Val659Ile) NC_000018.10:25225282:C:T Identity +NM_001001924.3:c.647C>T NP_001001924.1:p.Thr216Met NC_000008.11:17755160:G:A p.(Thr216Met) NC_000008.11:17755160:G:A p.(Thr216Met) NC_000008.11:17755160:G:A Identity +NM_001330395.4:c.2318T>G NP_001317324.2:p.Val773Gly NC_000019.10:15424740:A:C p.(Val773Gly) NC_000019.10:15424740:A:C p.(Val773Gly) NC_000019.10:15424740:A:C Identity +NM_001166663.2:c.722T>C NP_001160135.1:p.Phe241Ser NC_000001.11:160838997:A:G p.(Phe241Ser) NC_000001.11:160838997:A:G p.(Phe241Ser) NC_000001.11:160838997:A:G Identity +NM_001190707.2:c.1055G>A NP_001177636.1:p.Arg352Gln NC_000003.12:46683183:C:T p.(Arg352Gln) NC_000003.12:46683183:C:T p.(Arg352Gln) NC_000003.12:46683183:C:T Identity +NM_001350496.2:c.169G>A NP_001337425.1:p.Glu57Lys NC_000019.10:53454675:G:A p.(Glu57Lys) NC_000019.10:53454675:G:A p.(Glu57Lys) NC_000019.10:53454675:G:A Identity +NM_001372.4:c.9534T>G NP_001363.2:p.Phe3178Leu NC_000017.11:11854028:T:G p.(Phe3178Leu) NC_000017.11:11854028:T:G p.(Phe3178Leu) NC_000017.11:11854028:T:G Identity +NM_007359.5:c.65G>C NP_031385.2:p.Gly22Ala NC_000017.11:40140612:G:C p.(Gly22Ala) NC_000017.11:40140612:G:C p.(Gly22Ala) NC_000017.11:40140612:G:C Identity +NM_024578.3:c.640C>T NP_078854.1:p.Arg214Trp NC_000019.10:17228276:C:T p.(Arg214Trp) NC_000019.10:17228276:C:T p.(Arg214Trp) NC_000019.10:17228276:C:T Identity +NM_000612.6:c.505G>T NP_000603.1:p.Gly169Trp NC_000011.10:2133024:C:A p.(Gly169Trp) NC_000011.10:2133024:C:A p.(Gly169Trp) NC_000011.10:2133024:C:A Identity +NM_001206838.2:c.1442G>A NP_001193767.1:p.Arg481Gln NC_000007.14:122010487:G:A p.(Arg481Gln) NC_000007.14:122010487:G:A p.(Arg481Gln) NC_000007.14:122010487:G:A Identity +NM_001410839.1:c.1342C>T NP_001397768.1:p.Arg448Trp NC_000022.11:19978945:G:A p.(Arg448Trp) NC_000022.11:19978945:G:A p.(Arg448Trp) NC_000022.11:19978945:G:A Identity +NM_001130960.2:c.1945C>A NP_001124432.1:p.Gln649Lys NC_000003.12:155494430:G:T p.(Gln649Lys) NC_000003.12:155494430:G:T p.(Gln649Lys) NC_000003.12:155494430:G:T Identity +NM_001170795.4:c.125T>C NP_001164266.1:p.Val42Ala NC_000002.12:27213201:T:C p.(Val42Ala) NC_000002.12:27213201:T:C p.(Val42Ala) NC_000002.12:27213201:T:C Identity +NM_001304496.2:c.308A>G NP_001291425.1:p.His103Arg NC_000011.10:4600756:T:C p.(His103Arg) NC_000011.10:4600756:T:C p.(His103Arg) NC_000011.10:4600756:T:C Identity +NM_018416.3:c.421A>T NP_060886.1:p.Thr141Ser NC_000012.12:8043712:A:T p.(Thr141Ser) NC_000012.12:8043712:A:T p.(Thr141Ser) NC_000012.12:8043712:A:T Identity +NM_019069.4:c.748G>A NP_061942.2:p.Gly250Ser NC_000003.12:122414780:C:T p.(Gly250Ser) NC_000003.12:122414780:C:T p.(Gly250Ser) NC_000003.12:122414780:C:T Identity +NM_001394447.1:c.5264A>T NP_001381376.1:p.Glu1755Val NC_000011.10:85724090:T:A p.(Glu1755Val) NC_000011.10:85724090:T:A p.(Glu1755Val) NC_000011.10:85724090:T:A Identity +NM_001033026.2:c.104A>C NP_001028198.1:p.Asn35Thr NC_000019.10:1020892:T:G p.(Asn35Thr) NC_000019.10:1020892:T:G p.(Asn35Thr) NC_000019.10:1020892:T:G Identity +NM_006734.4:c.4685G>A NP_006725.3:p.Ser1562Asn NC_000006.12:142770053:C:T p.(Ser1562Asn) NC_000006.12:142770053:C:T p.(Ser1562Asn) NC_000006.12:142770053:C:T Identity +NM_014603.3:c.1124G>A NP_055418.2:p.Arg375Gln NC_000017.11:75003799:G:A p.(Arg375Gln) NC_000017.11:75003799:G:A p.(Arg375Gln) NC_000017.11:75003799:G:A Identity +NM_001163735.2:c.2116C>T NP_001157207.1:p.Pro706Ser NC_000017.11:36501199:G:A p.(Pro706Ser) NC_000017.11:36501199:G:A p.(Pro706Ser) NC_000017.11:36501199:G:A Identity +NM_001172411.2:c.1285A>G NP_001165882.1:p.Ile429Val NC_000001.11:115685503:A:G p.(Ile429Val) NC_000001.11:115685503:A:G p.(Ile429Val) NC_000001.11:115685503:A:G Identity +NM_001330762.2:c.931G>A NP_001317691.1:p.Val311Ile NC_000009.12:121141483:G:A p.(Val311Ile) NC_000009.12:121141483:G:A p.(Val311Ile) NC_000009.12:121141483:G:A Identity +NM_001199868.2:c.31G>A NP_001186797.1:p.Ala11Thr NC_000010.11:130136450:G:A p.(Ala11Thr) NC_000010.11:130136450:G:A p.(Ala11Thr) NC_000010.11:130136450:G:A Identity +NM_001004463.2:c.698G>A NP_001004463.1:p.Arg233Lys NC_000011.10:124038303:C:T p.(Arg233Lys) NC_000011.10:124038303:C:T p.(Arg233Lys) NC_000011.10:124038303:C:T Identity +NM_023944.4:c.292T>C NP_076433.3:p.Phe98Leu NC_000019.10:15678353:T:C p.(Phe98Leu) NC_000019.10:15678353:T:C p.(Phe98Leu) NC_000019.10:15678353:T:C Identity +NM_001303012.2:c.2774G>A NP_001289941.1:p.Arg925Gln NC_000001.11:2502304:G:A p.(Arg925Gln) NC_000001.11:2502304:G:A p.(Arg925Gln) NC_000001.11:2502304:G:A Identity +NM_024656.4:c.449C>T NP_078932.2:p.Ala150Val NC_000019.10:17560424:C:T p.(Ala150Val) NC_000019.10:17560424:C:T p.(Ala150Val) NC_000019.10:17560424:C:T Identity +NM_012134.3:c.1699C>T NP_036266.2:p.Leu567Phe NC_000001.11:201899313:G:A p.(Leu567Phe) NC_000001.11:201899313:G:A p.(Leu567Phe) NC_000001.11:201899313:G:A Identity +NM_182978.4:c.151A>C NP_892023.1:p.Thr51Pro NC_000018.10:11689713:A:C p.(Thr51Pro) NC_000018.10:11689713:A:C p.(Thr51Pro) NC_000018.10:11689713:A:C Identity +NM_001145206.2:c.2378T>A NP_001138678.1:p.Val793Asp NC_000022.11:25039507:T:A p.(Val793Asp) NC_000022.11:25039507:T:A p.(Val793Asp) NC_000022.11:25039507:T:A Identity +NM_001318498.2:c.427G>A NP_001305427.1:p.Gly143Ser NC_000011.10:73863177:G:A p.(Gly143Ser) NC_000011.10:73863177:G:A p.(Gly143Ser) NC_000011.10:73863177:G:A Identity +NM_014398.4:c.217A>C NP_055213.2:p.Ile73Leu NC_000003.12:183154223:T:G p.(Ile73Leu) NC_000003.12:183154223:T:G p.(Ile73Leu) NC_000003.12:183154223:T:G Identity +NM_014240.3:c.1391C>T NP_055055.1:p.Pro464Leu NC_000003.12:45596269:C:T p.(Pro464Leu) NC_000003.12:45596269:C:T p.(Pro464Leu) NC_000003.12:45596269:C:T Identity +NM_001378633.1:c.121C>T NP_001365562.1:p.His41Tyr NC_000020.11:25076544:G:A p.(His41Tyr) NC_000020.11:25076544:G:A p.(His41Tyr) NC_000020.11:25076544:G:A Identity +NM_001324062.2:c.1081G>A NP_001310991.1:p.Glu361Lys NC_000001.11:222628300:G:A p.(Glu361Lys) NC_000001.11:222628300:G:A p.(Glu361Lys) NC_000001.11:222628300:G:A Identity +NM_001001560.3:c.923C>A NP_001001560.1:p.Ala308Asp NC_000022.11:37630022:C:A p.(Ala308Asp) NC_000022.11:37630022:C:A p.(Ala308Asp) NC_000022.11:37630022:C:A Identity +NM_003458.4:c.2789G>A NP_003449.2:p.Arg930His NC_000003.12:49652344:G:A p.(Arg930His) NC_000003.12:49652344:G:A p.(Arg930His) NC_000003.12:49652344:G:A Identity +NM_001184937.2:c.1208A>G NP_001171866.1:p.Asn403Ser NC_000002.12:120100272:A:G p.(Asn403Ser) NC_000002.12:120100272:A:G p.(Asn403Ser) NC_000002.12:120100272:A:G Identity +NM_001350984.2:c.206G>A NP_001337913.1:p.Arg69Gln NC_000007.14:99619811:G:A p.(Arg69Gln) NC_000007.14:99619811:G:A p.(Arg69Gln) NC_000007.14:99619811:G:A Identity +NM_001367484.1:c.1106G>T NP_001354413.1:p.Arg369Leu NC_000001.11:53594321:C:A p.(Arg369Leu) NC_000001.11:53594321:C:A p.(Arg369Leu) NC_000001.11:53594321:C:A Identity +NM_001134707.2:c.2297G>A NP_001128179.1:p.Arg766His NC_000009.12:133671563:C:T p.(Arg766His) NC_000009.12:133671563:C:T p.(Arg766His) NC_000009.12:133671563:C:T Identity +NM_001411037.1:c.1149C>G NP_001397966.1:p.Asp383Glu NC_000011.10:110159487:C:G p.(Asp383Glu) NC_000011.10:110159487:C:G p.(Asp383Glu) NC_000011.10:110159487:C:G Identity +NM_001145134.2:c.736G>A NP_001138606.1:p.Ala246Thr NC_000022.11:50574539:C:T p.(Ala246Thr) NC_000022.11:50574539:C:T p.(Ala246Thr) NC_000022.11:50574539:C:T Identity +NM_001318049.2:c.218A>G NP_001304978.1:p.Asn73Ser NC_000008.11:56316129:T:C p.(Asn73Ser) NC_000008.11:56316129:T:C p.(Asn73Ser) NC_000008.11:56316129:T:C Identity +NM_032023.4:c.551C>A NP_114412.2:p.Ala184Asp NC_000010.11:44989292:C:A p.(Ala184Asp) NC_000010.11:44989292:C:A p.(Ala184Asp) NC_000010.11:44989292:C:A Identity +NM_001410991.1:c.4729G>A NP_001397920.1:p.Gly1577Arg NC_000009.12:115041057:C:T p.(Gly1577Arg) NC_000009.12:115041057:C:T p.(Gly1577Arg) NC_000009.12:115041057:C:T Identity +NM_001169122.2:c.1696C>T NP_001162593.1:p.Arg566Trp NC_000023.11:148955839:C:T p.(Arg566Trp) NC_000023.11:148955839:C:T p.(Arg566Trp) NC_000023.11:148955839:C:T Identity +NM_001387439.1:c.72G>C NP_001374368.1:p.Gln24His NC_000019.10:18896000:C:G p.(Gln24His) NC_000019.10:18896000:C:G p.(Gln24His) NC_000019.10:18896000:C:G Identity +NM_001080532.3:c.1748C>T NP_001074001.1:p.Ala583Val NC_000015.10:81341485:G:A p.(Ala583Val) NC_000015.10:81341485:G:A p.(Ala583Val) NC_000015.10:81341485:G:A Identity +NM_016609.7:c.718G>A NP_057693.4:p.Gly240Arg NC_000014.9:23349412:C:T p.(Gly240Arg) NC_000014.9:23349412:C:T p.(Gly240Arg) NC_000014.9:23349412:C:T Identity +NM_014763.4:c.337G>A NP_055578.2:p.Val113Ile NC_000002.12:75652256:G:A p.(Val113Ile) NC_000002.12:75652256:G:A p.(Val113Ile) NC_000002.12:75652256:G:A Identity +NM_001195290.2:c.161C>T NP_001182219.1:p.Thr54Ile NC_000005.10:148213988:C:T p.(Thr54Ile) NC_000005.10:148213988:C:T p.(Thr54Ile) NC_000005.10:148213988:C:T Identity +NM_013386.5:c.613G>C NP_037518.3:p.Gly205Arg NC_000001.11:108157517:C:G p.(Gly205Arg) NC_000001.11:108157517:C:G p.(Gly205Arg) NC_000001.11:108157517:C:G Identity +NM_001329515.3:c.1897C>T NP_001316444.1:p.His633Tyr NC_000019.10:37128887:C:T p.(His633Tyr) NC_000019.10:37128887:C:T p.(His633Tyr) NC_000019.10:37128887:C:T Identity +NM_001136038.4:c.1250G>A NP_001129510.2:p.Cys417Tyr NC_000019.10:53108794:C:T p.(Cys417Tyr) NC_000019.10:53108794:C:T p.(Cys417Tyr) NC_000019.10:53108794:C:T Identity +NM_001001671.4:c.416A>G NP_001001671.3:p.His139Arg NC_000023.11:19488912:T:C p.(His139Arg) NC_000023.11:19488912:T:C p.(His139Arg) NC_000023.11:19488912:T:C Identity +NM_001039999.3:c.328G>A NP_001035088.2:p.Glu110Lys NC_000017.11:19003713:C:T p.(Glu110Lys) NC_000017.11:19003713:C:T p.(Glu110Lys) NC_000017.11:19003713:C:T Identity +NM_014005.5:c.2164C>T NP_054724.1:p.Arg722Trp NC_000005.10:140850658:C:T ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014005.5 not found +NM_175053.4:c.1085A>G NP_778223.2:p.Asn362Ser NC_000012.12:52569907:T:C p.(Asn362Ser) NC_000012.12:52569907:T:C p.(Asn362Ser) NC_000012.12:52569907:T:C Identity +NM_145168.3:c.175C>T NP_660151.2:p.Arg59Cys NC_000016.10:82000117:G:A p.(Arg59Cys) NC_000016.10:82000117:G:A p.(Arg59Cys) NC_000016.10:82000117:G:A Identity +NM_001371116.1:c.1831G>A NP_001358045.1:p.Ala611Thr NC_000004.12:152975121:G:A p.(Ala611Thr) NC_000004.12:152975121:G:A p.(Ala611Thr) NC_000004.12:152975121:G:A Identity +NM_021798.4:c.1156G>A NP_068570.1:p.Gly386Arg NC_000016.10:27448821:G:A p.(Gly386Arg) NC_000016.10:27448821:G:A p.(Gly386Arg) NC_000016.10:27448821:G:A Identity +NM_001032394.3:c.3416G>C NP_001027566.2:p.Gly1139Ala NC_000006.12:142438289:G:C p.(Gly1139Ala) NC_000006.12:142438289:G:C p.(Gly1139Ala) NC_000006.12:142438289:G:C Identity +NM_001005271.3:c.5974G>A NP_001005271.2:p.Ala1992Thr NC_000017.11:7910888:G:A p.(Ala1992Thr) NC_000017.11:7910888:G:A p.(Ala1992Thr) NC_000017.11:7910888:G:A Identity +NM_000759.4:c.286A>G NP_000750.1:p.Ser96Gly NC_000017.11:40016313:A:G p.(Ser96Gly) NC_000017.11:40016313:A:G p.(Ser96Gly) NC_000017.11:40016313:A:G Identity +NM_001004758.1:c.851C>T NP_001004758.1:p.Ser284Phe NC_000011.10:4848357:G:A p.(Ser284Phe) NC_000011.10:4848357:G:A p.(Ser284Phe) NC_000011.10:4848357:G:A Identity +NM_001286219.2:c.391G>A NP_001273148.1:p.Gly131Ser NC_000012.12:125650908:G:A p.(Gly131Ser) NC_000012.12:125650908:G:A p.(Gly131Ser) NC_000012.12:125650908:G:A Identity +NM_001393530.1:c.892C>T NP_001380459.1:p.Arg298Trp NC_000020.11:45301006:G:A p.(Arg298Trp) NC_000020.11:45301006:G:A p.(Arg298Trp) NC_000020.11:45301006:G:A Identity +NM_001304507.1:c.240G>A NP_001291436.1:p.Met80Ile NC_000014.9:64487990:C:T p.(Met80Ile) NC_000014.9:64487990:C:T p.(Met80Ile) NC_000014.9:64487990:C:T Identity +NM_031488.5:c.925G>A NP_113676.2:p.Val309Met NC_000022.11:41221269:G:A p.(Val309Met) NC_000022.11:41221269:G:A p.(Val309Met) NC_000022.11:41221269:G:A Identity +NM_001304829.2:c.1333C>T NP_001291758.1:p.Arg445Cys NC_000001.11:100085568:G:A p.(Arg445Cys) NC_000001.11:100085568:G:A p.(Arg445Cys) NC_000001.11:100085568:G:A Identity +NM_145804.3:c.394C>T NP_665803.2:p.Leu132Phe NC_000011.10:34357189:G:A p.(Leu132Phe) NC_000011.10:34357189:G:A p.(Leu132Phe) NC_000011.10:34357189:G:A Identity +NM_001290331.2:c.1040G>A NP_001277260.1:p.Arg347Gln NC_000019.10:6471482:C:T p.(Arg347Gln) NC_000019.10:6471482:C:T p.(Arg347Gln) NC_000019.10:6471482:C:T Identity +NM_032725.4:c.820T>G NP_116114.1:p.Leu274Val NC_000011.10:116762768:A:C p.(Leu274Val) NC_000011.10:116762768:A:C p.(Leu274Val) NC_000011.10:116762768:A:C Identity +NM_005245.4:c.13411G>A NP_005236.2:p.Ala4471Thr NC_000004.12:186588947:C:T p.(Ala4471Thr) NC_000004.12:186588947:C:T p.(Ala4471Thr) NC_000004.12:186588947:C:T Identity +NM_001031707.1:c.169G>T NP_001026877.1:p.Asp57Tyr NC_000016.10:56453276:G:T ERR:Data provider error: ValueError: Transcript NM_001031707.1 not found ERR:Data provider error: ValueError: Transcript NM_001031707.1 not found ERR:AlignmentMapper(tx_ac=NM_001031707.1, alt_ac=NM_001031707.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031707.1, alt_ac=NM_001031707.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031707.1 not found +NM_001411138.1:c.2605C>T NP_001398067.1:p.Arg869Trp NC_000019.10:13929557:C:T p.(Arg869Trp) NC_000019.10:13929557:C:T p.(Arg869Trp) NC_000019.10:13929557:C:T Identity +NM_018029.4:c.523A>G NP_060499.3:p.Ile175Val NC_000003.12:73062603:A:G p.(Ile175Val) NC_000003.12:73062603:A:G p.(Ile175Val) NC_000003.12:73062603:A:G Identity +NM_001099293.3:c.3165T>G NP_001092763.1:p.His1055Gln NC_000005.10:155017023:T:G p.(His1055Gln) NC_000005.10:155017023:T:G p.(His1055Gln) NC_000005.10:155017023:T:G Identity +NM_005447.4:c.203G>C NP_005438.2:p.Arg68Pro NC_000012.12:85805806:C:G p.(Arg68Pro) NC_000012.12:85805806:C:G p.(Arg68Pro) NC_000012.12:85805806:C:G Identity +NM_020318.3:c.983G>T NP_064714.2:p.Gly328Val NC_000001.11:176594586:G:T p.(Gly328Val) NC_000001.11:176594586:G:T p.(Gly328Val) NC_000001.11:176594586:G:T Identity +NM_012393.3:c.1715G>T NP_036525.1:p.Arg572Leu NC_000017.11:8263859:G:T p.(Arg572Leu) NC_000017.11:8263859:G:T p.(Arg572Leu) NC_000017.11:8263859:G:T Identity +NM_001129820.2:c.1190T>G NP_001123292.1:p.Val397Gly NC_000017.11:35553443:A:C p.(Val397Gly) NC_000017.11:35553443:A:C p.(Val397Gly) NC_000017.11:35553443:A:C Identity +NM_001351273.1:c.5834G>A NP_001338202.1:p.Arg1945Gln NC_000019.10:1469137:G:A p.(Arg1945Gln) NC_000019.10:1469137:G:A p.(Arg1945Gln) NC_000019.10:1469137:G:A Identity +NM_017708.4:c.1090A>C NP_060178.2:p.Ser364Arg NC_000019.10:48603579:T:G p.(Ser364Arg) NC_000019.10:48603579:T:G p.(Ser364Arg) NC_000019.10:48603579:T:G Identity +NM_001010849.1:c.587G>T NP_001010849.1:p.Trp196Leu NC_000014.9:23276568:C:A ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found +NM_001002909.4:c.2800G>A NP_001002909.1:p.Asp934Asn NC_000017.11:44399276:C:T p.(Asp934Asn) NC_000017.11:44399276:C:T p.(Asp934Asn) NC_000017.11:44399276:C:T Identity +NM_006770.4:c.142G>A NP_006761.1:p.Val48Met NC_000002.12:118969203:G:A p.(Val48Met) NC_000002.12:118969203:G:A p.(Val48Met) NC_000002.12:118969203:G:A Identity +NM_001204456.2:c.290A>G NP_001191385.1:p.Lys97Arg NC_000007.14:5063745:A:G p.(Lys97Arg) NC_000007.14:5063745:A:G p.(Lys97Arg) NC_000007.14:5063745:A:G Identity +NM_024743.4:c.1400G>A NP_079019.3:p.Arg467His NC_000004.12:68929996:C:T p.(Arg467His) NC_000004.12:68929996:C:T p.(Arg467His) NC_000004.12:68929996:C:T Identity +NM_001318014.2:c.503C>G NP_001304943.1:p.Pro168Arg NC_000006.12:29462271:C:G p.(Pro168Arg) NC_000006.12:29462271:C:G p.(Pro168Arg) NC_000006.12:29462271:C:G Identity +NM_001170760.2:c.97G>A NP_001164231.1:p.Glu33Lys NC_000023.11:153781252:G:A p.(Glu33Lys) NC_000023.11:153781252:G:A p.(Glu33Lys) NC_000023.11:153781252:G:A Identity +NM_000227.6:c.2458G>C NP_000218.3:p.Gly820Arg NC_000018.10:23912836:G:C p.(Gly820Arg) NC_000018.10:23912836:G:C p.(Gly820Arg) NC_000018.10:23912836:G:C Identity +NM_016333.4:c.2747A>G NP_057417.3:p.Gln916Arg NC_000016.10:2763274:A:G p.(Gln916Arg) NC_000016.10:2763274:A:G p.(Gln916Arg) NC_000016.10:2763274:A:G Identity +NM_001004416.3:c.2944C>T NP_001004416.3:p.Arg982Trp NC_000021.9:42122946:C:T p.(Arg982Trp) NC_000021.9:42122946:C:T p.(Arg982Trp) NC_000021.9:42122946:C:T Identity +NM_001086.3:c.132A>C NP_001077.2:p.Gln44His NC_000003.12:151814293:A:C p.(Gln44His) NC_000003.12:151814293:A:C p.(Gln44His) NC_000003.12:151814293:A:C Identity +NM_001034954.3:c.3763G>A NP_001030126.2:p.Gly1255Arg NC_000010.11:95318367:C:T p.(Gly1255Arg) NC_000010.11:95318367:C:T p.(Gly1255Arg) NC_000010.11:95318367:C:T Identity +NM_001306129.2:c.2813G>A NP_001293058.2:p.Arg938His NC_000002.12:215406410:C:T p.(Arg938His) NC_000002.12:215406410:C:T p.(Arg938His) NC_000002.12:215406410:C:T Identity +NM_018416.3:c.181G>T NP_060886.1:p.Val61Leu NC_000012.12:8040012:G:T p.(Val61Leu) NC_000012.12:8040012:G:T p.(Val61Leu) NC_000012.12:8040012:G:T Identity +NM_000581.4:c.259G>C NP_000572.2:p.Ala87Pro NC_000003.12:49357740:C:G p.(Ala87Pro) NC_000003.12:49357740:C:G p.? NC_000003.12:49357740:C:G Identity +NM_001080393.2:c.527C>G NP_001073862.1:p.Thr176Arg NC_000003.12:72922261:C:G p.(Thr176Arg) NC_000003.12:72922261:C:G p.(Thr176Arg) NC_000003.12:72922261:C:G Identity +NM_001382546.1:c.1153A>G NP_001369475.1:p.Thr385Ala NC_000011.10:130137257:A:G p.(Thr385Ala) NC_000011.10:130137257:A:G p.(Thr385Ala) NC_000011.10:130137257:A:G Identity +NM_001144937.3:c.685T>C NP_001138409.1:p.Phe229Leu NC_000001.11:108722420:T:C p.(Phe229Leu) NC_000001.11:108722420:T:C p.(Phe229Leu) NC_000001.11:108722420:T:C Identity +NM_001080527.2:c.146G>A NP_001073996.1:p.Arg49Gln NC_000002.12:127565245:G:A p.(Arg49Gln) NC_000002.12:127565245:G:A p.(Arg49Gln) NC_000002.12:127565245:G:A Identity +NM_001039841.3:c.593T>C NP_001034930.1:p.Ile198Thr NC_000015.10:30635120:T:C p.(Ile198Thr) NC_000015.10:30635120:T:C p.(Ile198Thr) NC_000015.10:30635120:T:C Identity +NM_001304366.2:c.514C>G NP_001291295.1:p.His172Asp NC_000003.12:169926775:C:G p.(His172Asp) NC_000003.12:169926775:C:G p.(His172Asp) NC_000003.12:169926775:C:G Identity +NM_001163941.2:c.3123G>C NP_001157413.1:p.Glu1041Asp NC_000007.14:20742974:G:C p.(Glu1041Asp) NC_000007.14:20742974:G:C p.(Glu1041Asp) NC_000007.14:20742974:G:C Identity +NM_001134335.2:c.811G>A NP_001127807.1:p.Asp271Asn NC_000007.14:6041196:C:T p.(Asp271Asn) NC_000007.14:6041196:C:T p.(Asp271Asn) NC_000007.14:6041196:C:T Identity +NM_080740.5:c.1177C>G NP_542778.2:p.Pro393Ala NC_000022.11:22514453:G:C p.(Pro393Ala) NC_000022.11:22514453:G:C p.(Pro393Ala) NC_000022.11:22514453:G:C Identity +NM_013262.4:c.361G>T NP_037394.2:p.Ala121Ser NC_000006.12:16141706:G:T p.(Ala121Ser) NC_000006.12:16141706:G:T p.(Ala121Ser) NC_000006.12:16141706:G:T Identity +NM_014675.5:c.367C>T NP_055490.4:p.Arg123Trp NC_000001.11:16929860:C:T p.(Arg123Trp) NC_000001.11:16929860:C:T p.(Arg123Trp) NC_000001.11:16929860:C:T Identity +NM_001346432.2:c.307G>C NP_001333361.1:p.Gly103Arg NC_000011.10:27391115:C:G p.(Gly103Arg) NC_000011.10:27391115:C:G p.(Gly103Arg) NC_000011.10:27391115:C:G Identity +NM_000494.4:c.241A>G NP_000485.3:p.Arg81Gly NC_000010.11:104076390:T:C p.(Arg81Gly) NC_000010.11:104076390:T:C p.(Arg81Gly) NC_000010.11:104076390:T:C Identity +NM_001410948.1:c.1216C>T NP_001397877.1:p.Arg406Cys NC_000006.12:167341334:C:T p.(Arg406Cys) NC_000006.12:167341334:C:T p.(Arg406Cys) NC_000006.12:167341334:C:T Identity +NM_001282766.2:c.427G>A NP_001269695.1:p.Val143Met NC_000009.12:37495257:G:A p.(Val143Met) NC_000009.12:37495257:G:A p.(Val143Met) NC_000009.12:37495257:G:A Identity +NM_001288834.2:c.623T>G NP_001275763.1:p.Phe208Cys NC_000019.10:16501414:T:G p.(Phe208Cys) NC_000019.10:16501414:T:G p.(Phe208Cys) NC_000019.10:16501414:T:G Identity +NM_199340.5:c.1816G>A NP_955372.2:p.Val606Ile NC_000017.11:64895441:C:T p.(Val606Ile) NC_000017.11:64895441:C:T p.(Val606Ile) NC_000017.11:64895441:C:T Identity +NM_001145674.3:c.940T>C NP_001139146.1:p.Cys314Arg NC_000004.12:185624188:A:G p.(Cys314Arg) NC_000004.12:185624188:A:G p.(Cys314Arg) NC_000004.12:185624188:A:G Identity +NM_006598.3:c.487T>C NP_006589.2:p.Cys163Arg NC_000005.10:1088983:A:G p.(Cys163Arg) NC_000005.10:1088983:A:G p.(Cys163Arg) NC_000005.10:1088983:A:G Identity +NM_001156474.2:c.407G>A NP_001149946.1:p.Arg136His NC_000011.10:86392648:G:A p.(Arg136His) NC_000011.10:86392648:G:A p.(Arg136His) NC_000011.10:86392648:G:A Identity +NM_001320373.3:c.1051C>T NP_001307302.1:p.Arg351Cys NC_000003.12:184237399:C:T p.(Arg351Cys) NC_000003.12:184237399:C:T p.(Arg351Cys) NC_000003.12:184237399:C:T Identity +NM_170692.4:c.350A>T NP_733793.2:p.Gln117Leu NC_000001.11:178300010:A:T p.(Gln117Leu) NC_000001.11:178300010:A:T p.(Gln117Leu) NC_000001.11:178300010:A:T Identity +NM_001145635.2:c.1434G>C NP_001139107.1:p.Met478Ile NC_000001.11:117113464:C:G p.(Met478Ile) NC_000001.11:117113464:C:G p.(Met478Ile) NC_000001.11:117113464:C:G Identity +NM_000142.5:c.1549A>C NP_000133.1:p.Lys517Gln NC_000004.12:1805572:A:C p.(Lys517Gln) NC_000004.12:1805572:A:C p.(Lys517Gln) NC_000004.12:1805572:A:C Identity +NM_001145206.2:c.3679G>A NP_001138678.1:p.Val1227Met NC_000022.11:25040808:G:A p.(Val1227Met) NC_000022.11:25040808:G:A p.(Val1227Met) NC_000022.11:25040808:G:A Identity +NM_001005193.2:c.278C>T NP_001005193.2:p.Thr93Met NC_000019.10:9102965:G:A p.(Thr93Met) NC_000019.10:9102965:G:A p.(Thr93Met) NC_000019.10:9102965:G:A Identity +NM_001362481.2:c.2299G>A NP_001349410.1:p.Val767Met NC_000004.12:67492988:C:T p.(Val767Met) NC_000004.12:67492988:C:T p.(Val767Met) NC_000004.12:67492988:C:T Identity +NM_005308.3:c.1199G>A NP_005299.1:p.Arg400Gln NC_000010.11:119443684:G:A p.(Arg400Gln) NC_000010.11:119443684:G:A p.(Arg400Gln) NC_000010.11:119443684:G:A Identity +NM_015719.4:c.3493G>A NP_056534.2:p.Val1165Ile NC_000019.10:9974181:C:T p.(Val1165Ile) NC_000019.10:9974181:C:T p.(Val1165Ile) NC_000019.10:9974181:C:T Identity +NM_207360.3:c.136C>T NP_997243.2:p.Arg46Cys NC_000006.12:149474407:G:A p.(Arg46Cys) NC_000006.12:149474407:G:A p.(Arg46Cys) NC_000006.12:149474407:G:A Identity +NM_001278113.2:c.1760G>A NP_001265042.1:p.Cys587Tyr NC_000008.11:39749724:C:T p.(Cys587Tyr) NC_000008.11:39749724:C:T p.(Cys587Tyr) NC_000008.11:39749724:C:T Identity +NM_006437.4:c.586A>G NP_006428.2:p.Met196Val NC_000013.11:24498120:T:C p.(Met196Val) NC_000013.11:24498120:T:C p.(Met196Val) NC_000013.11:24498120:T:C Identity +NM_017970.4:c.3008C>A NP_060440.2:p.Ser1003Tyr NC_000014.9:90288366:G:T p.(Ser1003Tyr) NC_000014.9:90288366:G:T p.(Ser1003Tyr) NC_000014.9:90288366:G:T Identity +NM_001331133.1:c.334A>C NP_001318062.1:p.Ile112Leu NC_000019.10:19891772:A:C p.(Ile112Leu) NC_000019.10:19891772:A:C p.(Ile112Leu) NC_000019.10:19891772:A:C Identity +NM_201269.3:c.514C>A NP_958357.1:p.His172Asn NC_000001.11:90940839:G:T p.(His172Asn) NC_000001.11:90940839:G:T p.(His172Asn) NC_000001.11:90940839:G:T Identity +NM_001003674.3:c.275C>T NP_001003674.1:p.Ser92Leu NC_000018.10:13643407:C:T p.(Ser92Leu) NC_000018.10:13643407:C:T p.(Ser92Leu) NC_000018.10:13643407:C:T Identity +NM_001032287.3:c.1052A>G NP_001027458.1:p.His351Arg NC_000012.12:95049146:T:C p.(His351Arg) NC_000012.12:95049146:T:C p.(His351Arg) NC_000012.12:95049146:T:C Identity +NM_001130842.2:c.38C>A NP_001124314.1:p.Ala13Asp NC_000017.11:15701151:C:A p.(Ala13Asp) NC_000017.11:15701151:C:A p.(Ala13Asp) NC_000017.11:15701151:C:A Identity +NM_014272.5:c.4876G>A NP_055087.2:p.Glu1626Lys NC_000015.10:78762429:C:T p.(Glu1626Lys) NC_000015.10:78762429:C:T p.(Glu1626Lys) NC_000015.10:78762429:C:T Identity +NM_001008409.5:c.591C>A NP_001008409.1:p.Asp197Glu NC_000020.11:31922979:C:A p.(Asp197Glu) NC_000020.11:31922979:C:A p.(Asp197Glu) NC_000020.11:31922979:C:A Identity +NM_001130053.5:c.1438G>A NP_001123525.3:p.Val480Met NC_000008.11:143581103:C:T p.(Val480Met) NC_000008.11:143581103:C:T p.(Val480Met) NC_000008.11:143581103:C:T Identity +NM_001243766.2:c.56G>A NP_001230695.2:p.Arg19Gln NC_000001.11:46197765:C:T p.(Arg19Gln) NC_000001.11:46197765:C:T p.(Arg19Gln) NC_000001.11:46197765:C:T Identity +NM_001160708.2:c.3010A>G NP_001154180.1:p.Met1004Val NC_000012.12:106504165:A:G p.(Met1004Val) NC_000012.12:106504165:A:G p.(Met1004Val) NC_000012.12:106504165:A:G Identity +NM_001279356.2:c.7G>A NP_001266285.1:p.Gly3Ser NC_000008.11:54101816:C:T p.(Gly3Ser) NC_000008.11:54101816:C:T p.(Gly3Ser) NC_000008.11:54101816:C:T Identity +NM_001363491.2:c.472C>T NP_001350420.1:p.Arg158Trp NC_000007.14:139084004:G:A p.(Arg158Trp) NC_000007.14:139084004:G:A p.(Arg158Trp) NC_000007.14:139084004:G:A Identity +NM_001347886.2:c.1294G>A NP_001334815.1:p.Val432Ile NC_000016.10:21125197:C:T p.(Val432Ile) NC_000016.10:21125197:C:T p.(Val432Ile) NC_000016.10:21125197:C:T Identity +NM_001164586.2:c.6634G>T NP_001158058.1:p.Ala2212Ser NC_000001.11:201211526:G:T p.(Ala2212Ser) NC_000001.11:201211526:G:T p.(Ala2212Ser) NC_000001.11:201211526:G:T Identity +NM_000237.3:c.622G>A NP_000228.1:p.Val208Ile NC_000008.11:19954199:G:A p.(Val208Ile) NC_000008.11:19954199:G:A p.(Val208Ile) NC_000008.11:19954199:G:A Identity +NM_001278055.2:c.10651C>T NP_001264984.1:p.Gln3551Ter NC_000013.11:23332783:G:A p.(Gln3551Ter) NC_000013.11:23332783:G:A p.(Gln3551Ter) NC_000013.11:23332783:G:A Identity +NM_020634.3:c.434T>C NP_065685.1:p.Leu145Pro NC_000012.12:7690538:A:G p.(Leu145Pro) NC_000012.12:7690538:A:G p.(Leu145Pro) NC_000012.12:7690538:A:G Identity +NM_020437.5:c.26C>T NP_065170.2:p.Pro9Leu NC_000022.11:26433640:C:T p.(Pro9Leu) NC_000022.11:26433640:C:T p.(Pro9Leu) NC_000022.11:26433640:C:T Identity +NM_001004426.3:c.719T>C NP_001004426.1:p.Leu240Pro NC_000022.11:38140059:A:G p.(Leu240Pro) NC_000022.11:38140059:A:G p.(Leu240Pro) NC_000022.11:38140059:A:G Identity +NM_005249.5:c.637A>T NP_005240.3:p.Lys213Ter NC_000014.9:28767915:A:T p.(Lys213Ter) NC_000014.9:28767915:A:T p.(Lys213Ter) NC_000014.9:28767915:A:T Identity +NM_001172435.2:c.2393_2394del NP_001165906.1:p.Leu798fs NC_000002.12:135162751:TCTC:TC p.(Leu798ArgfsTer7) NC_000002.12:135162751:TCTC:TC p.(Leu798ArgfsTer7) NC_000002.12:135162753:TC: Analogous +NM_001330615.4:c.258T>G NP_001317544.2:p.Tyr86Ter NC_000003.12:12381358:T:G p.(Tyr86Ter) NC_000003.12:12381358:T:G p.(Tyr86Ter) NC_000003.12:12381358:T:G Identity +NM_001244808.3:c.821A>G NP_001231737.1:p.His274Arg NC_000003.12:71041375:T:C p.(His274Arg) NC_000003.12:71041375:T:C p.(His274Arg) NC_000003.12:71041375:T:C Identity +NM_001165963.4:c.25C>A NP_001159435.1:p.Pro9Thr NC_000002.12:166073596:G:T p.(Pro9Thr) NC_000002.12:166073596:G:T p.(Pro9Thr) NC_000002.12:166073596:G:T Identity +NM_005247.4:c.45del NP_005238.1:p.Trp16fs NC_000011.10:69818888:G: p.(Trp16GlyfsTer63) NC_000011.10:69818888:G: p.(Trp16GlyfsTer63) NC_000011.10:69818888:G: Analogous +NM_001199922.2:c.913C>T NP_001186851.1:p.Arg305Cys NC_000011.10:124639815:G:A p.(Arg305Cys) NC_000011.10:124639815:G:A p.(Arg305Cys) NC_000011.10:124639815:G:A Identity +NM_001362843.2:c.6850C>T NP_001349772.1:p.Pro2284Ser NC_000022.11:41178638:C:T p.(Pro2284Ser) NC_000022.11:41178638:C:T p.(Pro2284Ser) NC_000022.11:41178638:C:T Identity +NM_001243372.2:c.1148C>G NP_001230301.1:p.Ala383Gly NC_000004.12:169697399:C:G p.(Ala383Gly) NC_000004.12:169697399:C:G p.(Ala383Gly) NC_000004.12:169697399:C:G Identity +NM_001069.3:c.1276C>T NP_001060.1:p.Gln426Ter NC_000006.12:3153924:G:A p.(Gln426Ter) NC_000006.12:3153924:G:A p.(Gln426Ter) NC_000006.12:3153924:G:A Identity +NM_001160708.2:c.2407G>A NP_001154180.1:p.Ala803Thr NC_000012.12:106463487:G:A p.(Ala803Thr) NC_000012.12:106463487:G:A p.(Ala803Thr) NC_000012.12:106463487:G:A Identity +NM_001195226.2:c.329G>T NP_001182155.2:p.Cys110Phe NC_000022.11:18925064:C:A p.(Cys110Phe) NC_000022.11:18925064:C:A p.(Cys110Phe) NC_000022.11:18925064:C:A Identity +NM_001130066.2:c.1502T>C NP_001123538.1:p.Ile501Thr NC_000006.12:33438533:T:C p.(Ile501Thr) NC_000006.12:33438533:T:C p.(Ile501Thr) NC_000006.12:33438533:T:C Identity +NM_001136029.4:c.1736G>T NP_001129501.1:p.Ser579Ile NC_000022.11:31819090:G:T p.(Ser579Ile) NC_000022.11:31819090:G:T p.(Ser579Ile) NC_000022.11:31819090:G:T Identity +NM_001018037.2:c.6661C>G NP_001018047.1:p.Gln2221Glu NC_000009.12:77340180:C:G p.(Gln2221Glu) NC_000009.12:77340180:C:G p.(Gln2221Glu) NC_000009.12:77340180:C:G Identity +NM_002439.5:c.2382G>T NP_002430.3:p.Gln794His NC_000005.10:80778782:G:T p.(Gln794His) NC_000005.10:80778782:G:T p.(Gln794His) NC_000005.10:80778782:G:T Identity +NM_001257374.3:c.338G>C NP_001244303.1:p.Arg113Pro NC_000001.11:156134838:G:C p.(Arg113Pro) NC_000001.11:156134838:G:C p.(Arg113Pro) NC_000001.11:156134838:G:C Identity +NM_001174150.2:c.680G>A NP_001167621.1:p.Arg227Gln NC_000003.12:94036744:G:A p.(Arg227Gln) NC_000003.12:94036744:G:A p.(Arg227Gln) NC_000003.12:94036744:G:A Identity +NM_000302.4:c.1261dup NP_000293.2:p.Ala421fs NC_000001.11:11964227:GGGGGG:GGGGGGG p.(Ala421GlyfsTer45) NC_000001.11:11964227:GGGGGG:GGGGGGG p.(Ala421GlyfsTer45) ERR:SPDI Analogous +NM_030928.4:c.1177G>A NP_112190.2:p.Gly393Arg NC_000016.10:88807104:G:A p.(Gly393Arg) NC_000016.10:88807104:G:A p.(Gly393Arg) NC_000016.10:88807104:G:A Identity +NM_032801.5:c.367C>T NP_116190.3:p.Arg123Cys NC_000011.10:134144350:C:T p.(Arg123Cys) NC_000011.10:134144350:C:T p.(Arg123Cys) NC_000011.10:134144350:C:T Identity +NM_015909.4:c.2936A>G NP_056993.2:p.Asp979Gly NC_000002.12:15415546:T:C p.(Asp979Gly) NC_000002.12:15415546:T:C p.(Asp979Gly) NC_000002.12:15415546:T:C Identity +NM_001280787.1:c.529T>C NP_001267716.1:p.Ser177Pro NC_000009.12:133351959:A:G p.(Ser177Pro) NC_000009.12:133351959:A:G p.(Ser177Pro) NC_000009.12:133351959:A:G Identity +NM_001289937.2:c.41C>T NP_001276866.1:p.Ala14Val NC_000017.11:39700278:C:T p.(Ala14Val) NC_000017.11:39700278:C:T p.(Ala14Val) NC_000017.11:39700278:C:T Identity +NM_001377295.2:c.877A>G NP_001364224.1:p.Asn293Asp NC_000001.11:109603541:T:C p.(Asn293Asp) NC_000001.11:109603541:T:C p.(Asn293Asp) NC_000001.11:109603541:T:C Identity +NM_001376.5:c.3643G>A NP_001367.2:p.Glu1215Lys NC_000014.9:101997112:G:A p.(Glu1215Lys) NC_000014.9:101997112:G:A p.(Glu1215Lys) NC_000014.9:101997112:G:A Identity +NM_000612.6:c.412C>G NP_000603.1:p.Arg138Gly NC_000011.10:2133117:G:C p.(Arg138Gly) NC_000011.10:2133117:G:C p.(Arg138Gly) NC_000011.10:2133117:G:C Identity +NM_000388.4:c.747_749del NP_000379.3:p.Glu251del NC_000003.12:122261779:GAGGA:GA p.(Glu251del) NC_000003.12:122261779:GAGGA:GA p.(Glu251del) NC_000003.12:122261781:GGA: Identity +NM_025074.7:c.8933G>A NP_079350.5:p.Arg2978Gln NC_000004.12:78489054:G:A p.(Arg2978Gln) NC_000004.12:78489054:G:A p.(Arg2978Gln) NC_000004.12:78489054:G:A Identity +NM_004565.3:c.16C>G NP_004556.1:p.Gln6Glu NC_000001.11:10474981:C:G p.(Gln6Glu) NC_000001.11:10474981:C:G p.(Gln6Glu) NC_000001.11:10474981:C:G Identity +NM_000254.3:c.3077T>C NP_000245.2:p.Leu1026Pro NC_000001.11:236891201:T:C p.(Leu1026Pro) NC_000001.11:236891201:T:C p.(Leu1026Pro) NC_000001.11:236891201:T:C Identity +NM_170606.3:c.13033T>C NP_733751.2:p.Cys4345Arg NC_000007.14:152148893:A:G p.(Cys4345Arg) NC_000007.14:152148893:A:G p.(Cys4345Arg) NC_000007.14:152148893:A:G Identity +NM_001372066.1:c.23C>T NP_001358995.1:p.Thr8Met NC_000006.12:10414968:G:A p.(Thr8Met) NC_000006.12:10414968:G:A p.(Thr8Met) NC_000006.12:10414968:G:A Identity +NM_001411101.1:c.139C>T NP_001398030.1:p.His47Tyr NC_000017.11:82752331:C:T p.(His47Tyr) NC_000017.11:82752331:C:T p.(His47Tyr) NC_000017.11:82752331:C:T Identity +NM_002949.4:c.379C>T NP_002940.2:p.Arg127Trp NC_000017.11:81706938:C:T p.(Arg127Trp) NC_000017.11:81706938:C:T p.(Arg127Trp) NC_000017.11:81706938:C:T Identity +NM_001302653.2:c.49C>G NP_001289582.2:p.Arg17Gly NC_000014.9:103563049:C:G p.(Arg17Gly) NC_000014.9:103563049:C:G p.(Arg17Gly) NC_000014.9:103563049:C:G Identity +NM_001370537.1:c.545G>A NP_001357466.1:p.Ser182Asn NC_000016.10:74636392:C:T p.(Ser182Asn) NC_000016.10:74636392:C:T p.(Ser182Asn) NC_000016.10:74636392:C:T Identity +NM_000111.3:c.2190G>C NP_000102.1:p.Lys730Asn NC_000007.14:107767780:C:G p.(Lys730Asn) NC_000007.14:107767780:C:G p.(Lys730Asn) NC_000007.14:107767780:C:G Identity +NM_001399969.1:c.721G>A NP_001386898.1:p.Ala241Thr NC_000001.11:100206246:C:T p.(Ala241Thr) NC_000001.11:100206246:C:T p.(Ala241Thr) NC_000001.11:100206246:C:T Identity +NM_001199922.2:c.542C>T NP_001186851.1:p.Ser181Phe NC_000011.10:124649693:G:A p.(Ser181Phe) NC_000011.10:124649693:G:A p.(Ser181Phe) NC_000011.10:124649693:G:A Identity +NM_001018115.3:c.2507A>G NP_001018125.1:p.Tyr836Cys NC_000003.12:10072882:A:G p.(Tyr836Cys) NC_000003.12:10072882:A:G p.(Tyr836Cys) NC_000003.12:10072882:A:G Identity +NM_001081.4:c.1924G>A NP_001072.2:p.Asp642Asn NC_000010.11:17088186:C:T p.(Asp642Asn) NC_000010.11:17088186:C:T p.(Asp642Asn) NC_000010.11:17088186:C:T Identity +NM_004055.5:c.619G>A NP_004046.2:p.Asp207Asn NC_000011.10:77114353:G:A p.(Asp207Asn) NC_000011.10:77114353:G:A p.(Asp207Asn) NC_000011.10:77114353:G:A Identity +NM_001039141.3:c.1633G>T NP_001034230.1:p.Ala545Ser NC_000022.11:37724188:G:T p.(Ala545Ser) NC_000022.11:37724188:G:T p.(Ala545Ser) NC_000022.11:37724188:G:T Identity +NM_001318245.2:c.1021C>G NP_001305174.1:p.Leu341Val NC_000022.11:25768936:C:G p.(Leu341Val) NC_000022.11:25768936:C:G p.(Leu341Val) NC_000022.11:25768936:C:G Identity +NM_001146008.2:c.689C>T NP_001139480.1:p.Ser230Leu NC_000008.11:69831984:G:A p.(Ser230Leu) NC_000008.11:69831984:G:A p.(Ser230Leu) NC_000008.11:69831984:G:A Identity +NM_015346.4:c.7570C>T NP_056161.2:p.Leu2524Phe NC_000014.9:67748485:G:A p.(Leu2524Phe) NC_000014.9:67748485:G:A p.(Leu2524Phe) NC_000014.9:67748485:G:A Identity +NM_003054.6:c.730G>A NP_003045.2:p.Glu244Lys NC_000010.11:117255305:G:A p.(Glu244Lys) NC_000010.11:117255305:G:A p.(Glu244Lys) NC_000010.11:117255305:G:A Identity +NM_198075.4:c.1225dup NP_932341.1:p.Val409fs NC_000011.10:552611:G:GG p.(Val409GlyfsTer11) NC_000011.10:552611:G:GG p.(Val409GlyfsTer11) ERR:SPDI Analogous +NM_001410908.1:c.4135G>A NP_001397837.1:p.Val1379Ile NC_000007.14:105112016:G:A p.(Val1379Ile) NC_000007.14:105112016:G:A p.(Val1379Ile) NC_000007.14:105112016:G:A Identity +NM_058216.3:c.876A>C NP_478123.1:p.Arg292Ser NC_000017.11:58720783:A:C p.(Arg292Ser) NC_000017.11:58720783:A:C p.(Arg292Ser) NC_000017.11:58720783:A:C Identity +NM_006903.4:c.10C>G NP_008834.3:p.Leu4Val NC_000004.12:105474040:G:C p.(Leu4Val) NC_000004.12:105474040:G:C p.(Leu4Val) NC_000004.12:105474040:G:C Identity +NM_003922.4:c.902C>G NP_003913.3:p.Thr301Ser NC_000015.10:63774721:G:C p.(Thr301Ser) NC_000015.10:63774721:G:C p.(Thr301Ser) NC_000015.10:63774721:G:C Identity +NM_001136052.3:c.2275C>T NP_001129524.1:p.Arg759Cys NC_000019.10:49713500:C:T p.(Arg759Cys) NC_000019.10:49713500:C:T p.(Arg759Cys) NC_000019.10:49713500:C:T Identity +NM_000428.3:c.3754C>A NP_000419.1:p.Pro1252Thr NC_000014.9:74507993:G:T p.(Pro1252Thr) NC_000014.9:74507993:G:T p.(Pro1252Thr) NC_000014.9:74507993:G:T Identity +NM_000739.3:c.257T>C NP_000730.1:p.Ile86Thr NC_000007.14:137015121:T:C p.(Ile86Thr) NC_000007.14:137015121:T:C p.(Ile86Thr) NC_000007.14:137015121:T:C Identity +NM_032195.3:c.6885G>T NP_115571.3:p.Arg2295Ser NC_000021.9:33560103:G:T p.(Arg2295Ser) NC_000021.9:33560103:G:T p.(Arg2295Ser) NC_000021.9:33560103:G:T Identity +NM_001130103.2:c.1505G>A NP_001123575.1:p.Arg502His NC_000010.11:69930406:G:A p.(Arg502His) NC_000010.11:69930406:G:A p.(Arg502His) NC_000010.11:69930406:G:A Identity +NM_022166.4:c.2566C>A NP_071449.1:p.Leu856Met NC_000016.10:17109008:G:T p.(Leu856Met) NC_000016.10:17109008:G:T p.(Leu856Met) NC_000016.10:17109008:G:T Identity +NM_001178007.2:c.10G>T NP_001171478.1:p.Ala4Ser NC_000004.12:122741901:G:T p.(Ala4Ser) NC_000004.12:122741901:G:T p.(Ala4Ser) NC_000004.12:122741901:G:T Identity +NM_015346.4:c.3827C>T NP_056161.2:p.Pro1276Leu NC_000014.9:67783324:G:A p.(Pro1276Leu) NC_000014.9:67783324:G:A p.(Pro1276Leu) NC_000014.9:67783324:G:A Identity +NM_001411087.1:c.1508C>A NP_001398016.1:p.Pro503His NC_000019.10:45037566:C:A p.(Pro503His) NC_000019.10:45037566:C:A p.(Pro503His) NC_000019.10:45037566:C:A Identity +NM_145059.3:c.890C>T NP_659496.2:p.Ala297Val NC_000016.10:70469257:C:T p.(Ala297Val) NC_000016.10:70469257:C:T p.(Ala297Val) NC_000016.10:70469257:C:T Identity +NM_001113378.2:c.1361C>G NP_001106849.1:p.Ser454Cys NC_000015.10:89278753:C:G p.(Ser454Cys) NC_000015.10:89278753:C:G p.(Ser454Cys) NC_000015.10:89278753:C:G Identity +NM_000203.5:c.718C>T NP_000194.2:p.His240Tyr NC_000004.12:1001806:C:T p.(His240Tyr) NC_000004.12:1001806:C:T p.(His240Tyr) NC_000004.12:1001806:C:T Identity +NM_020693.4:c.3445C>T NP_065744.3:p.Arg1149Trp NC_000011.10:117458876:G:A p.(Arg1149Trp) NC_000011.10:117458876:G:A p.(Arg1149Trp) NC_000011.10:117458876:G:A Identity +NM_001378454.1:c.9806A>C NP_001365383.1:p.Lys3269Thr NC_000002.12:73534847:A:C p.(Lys3269Thr) NC_000002.12:73534847:A:C p.(Lys3269Thr) NC_000002.12:73534847:A:C Identity +NM_001308133.2:c.2564A>G NP_001295062.1:p.Asp855Gly NC_000014.9:45175395:A:G p.(Asp855Gly) NC_000014.9:45175395:A:G p.(Asp855Gly) NC_000014.9:45175395:A:G Identity +NM_003482.4:c.16175G>A NP_003473.3:p.Arg5392His NC_000012.12:49022752:C:T p.(Arg5392His) NC_000012.12:49022752:C:T p.(Arg5392His) NC_000012.12:49022752:C:T Identity +NM_001304763.2:c.2781A>C NP_001291692.1:p.Glu927Asp NC_000001.11:151289823:A:C p.(Glu927Asp) NC_000001.11:151289823:A:C p.(Glu927Asp) NC_000001.11:151289823:A:C Identity +NM_002439.5:c.2015T>C NP_002430.3:p.Ile672Thr NC_000005.10:80768050:T:C p.(Ile672Thr) NC_000005.10:80768050:T:C p.(Ile672Thr) NC_000005.10:80768050:T:C Identity +NM_001291285.3:c.4457G>A NP_001278214.1:p.Arg1486Gln NC_000004.12:125320867:G:A p.(Arg1486Gln) NC_000004.12:125320867:G:A p.(Arg1486Gln) NC_000004.12:125320867:G:A Identity +NM_003647.3:c.86C>G NP_003638.1:p.Ser29Trp NC_000017.11:56834880:C:G p.(Ser29Trp) NC_000017.11:56834880:C:G p.(Ser29Trp) NC_000017.11:56834880:C:G Identity +NM_002103.5:c.334C>T NP_002094.2:p.Pro112Ser NC_000019.10:48987351:G:A p.(Pro112Ser) NC_000019.10:48987351:G:A p.(Pro112Ser) NC_000019.10:48987351:G:A Identity +NM_001293557.2:c.1309G>A NP_001280486.1:p.Gly437Arg NC_000016.10:50711300:G:A p.(Gly437Arg) NC_000016.10:50711300:G:A p.(Gly437Arg) NC_000016.10:50711300:G:A Identity +NM_001284351.3:c.295G>A NP_001271280.1:p.Val99Ile NC_000005.10:491987:C:T p.(Val99Ile) NC_000005.10:491987:C:T p.(Val99Ile) NC_000005.10:491987:C:T Identity +NM_000742.4:c.1303A>G NP_000733.2:p.Thr435Ala NC_000008.11:27463139:T:C p.(Thr435Ala) NC_000008.11:27463139:T:C p.(Thr435Ala) NC_000008.11:27463139:T:C Identity +NM_020693.4:c.6133G>A NP_065744.3:p.Ala2045Thr NC_000011.10:117428356:C:T p.(Ala2045Thr) NC_000011.10:117428356:C:T p.(Ala2045Thr) NC_000011.10:117428356:C:T Identity +NM_006493.4:c.1057A>G NP_006484.2:p.Lys353Glu NC_000013.11:77000948:A:G p.(Lys353Glu) NC_000013.11:77000948:A:G p.(Lys353Glu) NC_000013.11:77000948:A:G Identity +NM_001134830.2:c.2272C>T NP_001128302.1:p.His758Tyr NC_000006.12:135431308:G:A p.(His758Tyr) NC_000006.12:135431308:G:A p.(His758Tyr) NC_000006.12:135431308:G:A Identity +NM_001136029.4:c.3179A>G NP_001129501.1:p.Gln1060Arg NC_000022.11:31857494:A:G p.(Gln1060Arg) NC_000022.11:31857494:A:G p.(Gln1060Arg) NC_000022.11:31857494:A:G Identity +NM_001037631.3:c.478T>C NP_001032720.1:p.Tyr160His NC_000002.12:203872727:T:C p.(Tyr160His) NC_000002.12:203872727:T:C p.(Tyr160His) NC_000002.12:203872727:T:C Identity +NM_001357321.2:c.386C>A NP_001344250.1:p.Ser129Ter NC_000002.12:43851646:C:A p.(Ser129Ter) NC_000002.12:43851646:C:A p.(Ser129Ter) NC_000002.12:43851646:C:A Identity +NM_000532.5:c.946A>G NP_000523.2:p.Met316Val NC_000003.12:136301090:A:G p.(Met316Val) NC_000003.12:136301090:A:G p.(Met316Val) NC_000003.12:136301090:A:G Identity +NM_001141973.3:c.583T>C NP_001135445.1:p.Ser195Pro NC_000001.11:17002332:A:G p.(Ser195Pro) NC_000001.11:17002332:A:G p.(Ser195Pro) NC_000001.11:17002332:A:G Identity +NM_000718.4:c.2759G>A NP_000709.1:p.Arg920Gln NC_000009.12:138023501:G:A p.(Arg920Gln) NC_000009.12:138023501:G:A p.(Arg920Gln) NC_000009.12:138023501:G:A Identity +NM_153240.5:c.1531C>T NP_694972.3:p.Gln511Ter NC_000003.12:132701526:G:A p.(Gln511Ter) NC_000003.12:132701526:G:A p.(Gln511Ter) NC_000003.12:132701526:G:A Identity +NM_000780.4:c.682T>G NP_000771.2:p.Phe228Val NC_000008.11:58496829:A:C p.(Phe228Val) NC_000008.11:58496829:A:C p.(Phe228Val) NC_000008.11:58496829:A:C Identity +NM_001411025.1:c.5326C>T NP_001397954.1:p.Arg1776Trp NC_000011.10:66691543:G:A p.(Arg1776Trp) NC_000011.10:66691543:G:A p.(Arg1776Trp) NC_000011.10:66691543:G:A Identity +NM_005157.6:c.1900G>A NP_005148.2:p.Gly634Ser NC_000009.12:130884189:G:A p.(Gly634Ser) NC_000009.12:130884189:G:A p.(Gly634Ser) NC_000009.12:130884189:G:A Identity +NM_001114182.3:c.1340T>A NP_001107654.1:p.Ile447Asn NC_000012.12:43786549:T:A p.(Ile447Asn) NC_000012.12:43786549:T:A p.(Ile447Asn) NC_000012.12:43786549:T:A Identity +NM_000274.4:c.1076A>G NP_000265.1:p.Glu359Gly NC_000010.11:124400922:T:C p.(Glu359Gly) NC_000010.11:124400922:T:C p.(Glu359Gly) NC_000010.11:124400922:T:C Identity +NM_018941.4:c.163T>G NP_061764.2:p.Ser55Ala NC_000008.11:1771216:T:G p.(Ser55Ala) NC_000008.11:1771216:T:G p.(Ser55Ala) NC_000008.11:1771216:T:G Identity +NM_005921.2:c.293C>G NP_005912.1:p.Ala98Gly NC_000005.10:56815865:C:G p.(Ala98Gly) NC_000005.10:56815865:C:G p.(Ala98Gly) NC_000005.10:56815865:C:G Identity +NM_001351273.1:c.1795G>A NP_001338202.1:p.Gly599Ser NC_000019.10:1462121:G:A p.(Gly599Ser) NC_000019.10:1462121:G:A p.(Gly599Ser) NC_000019.10:1462121:G:A Identity +NM_001330358.2:c.1813T>C NP_001317287.1:p.Phe605Leu NC_000001.11:11791268:A:G p.(Phe605Leu) NC_000001.11:11791268:A:G p.(Phe605Leu) NC_000001.11:11791268:A:G Identity +NM_001346813.1:c.2495G>A NP_001333742.1:p.Ser832Asn NC_000006.12:157133189:G:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001291411.2:c.5482C>T NP_001278340.2:p.Arg1828Cys NC_000021.9:33554712:C:T p.(Arg1828Cys) NC_000021.9:33554712:C:T p.(Arg1828Cys) NC_000021.9:33554712:C:T Identity +NM_001363823.2:c.659G>A NP_001350752.1:p.Arg220His NC_000002.12:32098870:G:A p.(Arg220His) NC_000002.12:32098870:G:A p.(Arg220His) NC_000002.12:32098870:G:A Identity +NM_006516.4:c.923A>G NP_006507.2:p.Tyr308Cys NC_000001.11:42929258:T:C p.(Tyr308Cys) NC_000001.11:42929258:T:C p.(Tyr308Cys) NC_000001.11:42929258:T:C Identity +NM_001413017.1:c.1105G>A NP_001399946.1:p.Glu369Lys NC_000008.11:144515820:C:T p.(Glu369Lys) NC_000008.11:144515820:C:T p.(Glu369Lys) NC_000008.11:144515820:C:T Identity +NM_001098.3:c.182G>A NP_001089.1:p.Arg61Gln NC_000022.11:41507798:G:A p.(Arg61Gln) NC_000022.11:41507798:G:A p.(Arg61Gln) NC_000022.11:41507798:G:A Identity +NM_001353229.2:c.931G>A NP_001340158.1:p.Glu311Lys NC_000017.11:17219203:C:T p.(Glu311Lys) NC_000017.11:17219203:C:T p.(Glu311Lys) NC_000017.11:17219203:C:T Identity +NM_001270507.2:c.2149G>A NP_001257436.1:p.Ala717Thr NC_000006.12:137881094:G:A p.(Ala717Thr) NC_000006.12:137881094:G:A p.(Ala717Thr) NC_000006.12:137881094:G:A Identity +NM_019075.4:c.993del NP_061948.1:p.Trp332fs NC_000002.12:233767853:G: p.(Trp332GlyfsTer31) NC_000002.12:233767853:G: p.(Trp332GlyfsTer31) NC_000002.12:233767853:G: Analogous +NM_000587.4:c.1130T>C NP_000578.2:p.Ile377Thr NC_000005.10:40955422:T:C p.(Ile377Thr) NC_000005.10:40955422:T:C p.(Ile377Thr) NC_000005.10:40955422:T:C Identity +NM_001184891.2:c.830CTT[1] NP_001171820.1:p.Ser278del NC_000001.11:154989561:TCTTCTT:TCTT p.(Ser278del) NC_000001.11:154989562:C:CTT ERR:Parse ERR:Parse Identity +NM_001280787.1:c.366C>G NP_001267716.1:p.Asp122Glu NC_000009.12:133352503:G:C p.(Asp122Glu) NC_000009.12:133352503:G:C p.(Asp122Glu) NC_000009.12:133352503:G:C Identity +NM_005245.4:c.5604T>G NP_005236.2:p.His1868Gln NC_000004.12:186620981:A:C p.(His1868Gln) NC_000004.12:186620981:A:C p.(His1868Gln) NC_000004.12:186620981:A:C Identity +NM_001378226.1:c.737G>A NP_001365155.1:p.Arg246His NC_000001.11:119033187:C:T p.(Arg246His) NC_000001.11:119033187:C:T p.(Arg246His) NC_000001.11:119033187:C:T Identity +NM_020381.4:c.835A>G NP_065114.3:p.Met279Val NC_000006.12:107212149:T:C p.(Met279Val) NC_000006.12:107212149:T:C p.(Met279Val) NC_000006.12:107212149:T:C Identity +NM_001293306.2:c.226G>A NP_001280235.2:p.Gly76Arg NC_000003.12:38793784:C:T p.(Gly76Arg) NC_000003.12:38793784:C:T p.(Gly76Arg) NC_000003.12:38793784:C:T Identity +NM_000718.4:c.5953_5954delinsTT NP_000709.1:p.Pro1985Phe NC_000009.12:138118690:CC:TT p.(Pro1985Phe) NC_000009.12:138118690:CC:TT p.(Pro1985Phe) NC_000009.12:138118690:CC:TT Identity +NM_013432.5:c.3488G>A NP_038460.4:p.Arg1163His NC_000008.11:144433658:C:T p.(Arg1163His) NC_000008.11:144433658:C:T p.(Arg1163His) NC_000008.11:144433658:C:T Identity +NM_001377156.1:c.557G>A NP_001364085.1:p.Arg186His NC_000007.14:5741288:C:T p.(Arg186His) NC_000007.14:5741288:C:T p.(Arg186His) NC_000007.14:5741288:C:T Identity +NM_001025295.3:c.202G>C NP_001020466.1:p.Val68Leu NC_000011.10:298697:C:G p.(Val68Leu) NC_000011.10:298697:C:G p.(Val68Leu) NC_000011.10:298697:C:G Identity +NM_001374425.1:c.191C>G NP_001361354.1:p.Ala64Gly NC_000001.11:2410372:G:C p.(Ala64Gly) NC_000001.11:2410372:G:C p.(Ala64Gly) NC_000001.11:2410372:G:C Identity +NM_001145357.2:c.1354A>G NP_001138829.1:p.Met452Val NC_000015.10:75407107:T:C p.(Met452Val) NC_000015.10:75407107:T:C p.(Met452Val) NC_000015.10:75407107:T:C Identity +NM_001330454.2:c.732G>C NP_001317383.1:p.Glu244Asp NC_000016.10:3523175:G:C p.(Glu244Asp) NC_000016.10:3523175:G:C p.(Glu244Asp) NC_000016.10:3523175:G:C Identity +NM_000057.4:c.3839C>G NP_000048.1:p.Ser1280Ter NC_000015.10:90809223:C:G p.(Ser1280Ter) NC_000015.10:90809223:C:G p.(Ser1280Ter) NC_000015.10:90809223:C:G Identity +NM_000540.3:c.12887G>C NP_000531.2:p.Arg4296Pro NC_000019.10:38565220:G:C p.(Arg4296Pro) NC_000019.10:38565220:G:C p.(Arg4296Pro) NC_000019.10:38565220:G:C Identity +NM_001144769.5:c.13063G>A NP_001138241.1:p.Glu4355Lys NC_000006.12:56506486:C:T p.(Glu4355Lys) NC_000006.12:56506486:C:T p.(Glu4355Lys) NC_000006.12:56506486:C:T Identity +NM_000179.3:c.1906A>G NP_000170.1:p.Thr636Ala NC_000002.12:47799888:A:G p.(Thr636Ala) NC_000002.12:47799888:A:G p.(Thr636Ala) NC_000002.12:47799888:A:G Identity +NM_000244.4:c.1038G>C NP_000235.3:p.Trp346Cys NC_000011.10:64806257:C:G p.(Trp346Cys) NC_000011.10:64806257:C:G p.(Trp346Cys) NC_000011.10:64806257:C:G Identity +NM_000068.4:c.2606A>T NP_000059.3:p.His869Leu NC_000019.10:13299038:T:A p.(His869Leu) NC_000019.10:13299038:T:A p.(His869Leu) NC_000019.10:13299038:T:A Identity +NM_000133.4:c.194T>C NP_000124.1:p.Met65Thr NC_000023.11:139537114:T:C p.(Met65Thr) NC_000023.11:139537114:T:C p.(Met65Thr) NC_000023.11:139537114:T:C Identity +NM_031935.3:c.14345G>A NP_114141.2:p.Arg4782His NC_000001.11:186145480:G:A p.(Arg4782His) NC_000001.11:186145480:G:A p.(Arg4782His) NC_000001.11:186145480:G:A Identity +NM_000127.3:c.154G>T NP_000118.2:p.Asp52Tyr NC_000008.11:118110892:C:A p.(Asp52Tyr) NC_000008.11:118110892:C:A p.(Asp52Tyr) NC_000008.11:118110892:C:A Identity +NM_007123.6:c.22T>A NP_009054.6:p.Leu8Met NC_000001.11:216422314:A:T p.(Leu8Met) NC_000001.11:216422314:A:T p.(Leu8Met) NC_000001.11:216422314:A:T Identity +NM_000059.4:c.929dup NP_000050.3:p.Leu310fs NC_000013.11:32332405:TT:TTT p.(Leu310PhefsTer5) NC_000013.11:32332405:TT:TTT p.(Leu310PhefsTer5) ERR:SPDI Analogous +NM_000452.3:c.888C>G NP_000443.2:p.Phe296Leu NC_000013.11:103049319:G:C p.(Phe296Leu) NC_000013.11:103049319:G:C p.(Phe296Leu) NC_000013.11:103049319:G:C Identity +NM_024312.5:c.2701C>T NP_077288.2:p.Gln901Ter NC_000012.12:101764215:G:A p.(Gln901Ter) NC_000012.12:101764215:G:A p.(Gln901Ter) NC_000012.12:101764215:G:A Identity +NM_003573.2:c.3139C>T NP_003564.2:p.Arg1047Trp NC_000019.10:40617203:C:T p.(Arg1047Trp) NC_000019.10:40617203:C:T p.(Arg1047Trp) NC_000019.10:40617203:C:T Identity +NM_000152.5:c.1853G>A NP_000143.2:p.Trp618Ter NC_000017.11:80112675:G:A p.(Trp618Ter) NC_000017.11:80112675:G:A p.(Trp618Ter) NC_000017.11:80112675:G:A Identity +NM_001159291.2:c.2387A>C NP_001152763.1:p.Asp796Ala NC_000006.12:109445798:T:G p.(Asp796Ala) NC_000006.12:109445798:T:G p.(Asp796Ala) NC_000006.12:109445798:T:G Identity +NM_001376.5:c.4276G>T NP_001367.2:p.Val1426Phe NC_000014.9:102001234:G:T p.(Val1426Phe) NC_000014.9:102001234:G:T p.(Val1426Phe) NC_000014.9:102001234:G:T Identity +NM_000088.4:c.2179C>T NP_000079.2:p.Gln727Ter NC_000017.11:50191438:G:A p.(Gln727Ter) NC_000017.11:50191438:G:A p.(Gln727Ter) NC_000017.11:50191438:G:A Identity +NM_020223.4:c.499C>G NP_064608.2:p.His167Asp NC_000007.14:193697:C:G p.(His167Asp) NC_000007.14:193697:C:G p.(His167Asp) NC_000007.14:193697:C:G Identity +NM_001171933.1:c.3013T>C NP_001165404.1:p.Ser1005Pro NC_000010.11:71813342:T:C p.(Ser1005Pro) NC_000010.11:71813342:T:C p.(Ser1005Pro) NC_000010.11:71813342:T:C Identity +NM_001161520.2:c.2304G>C NP_001154992.2:p.Glu768Asp NC_000007.14:107210596:C:G p.(Glu768Asp) NC_000007.14:107210596:C:G p.(Glu768Asp) NC_000007.14:107210596:C:G Identity +NM_001367804.2:c.2536G>A NP_001354733.1:p.Val846Ile NC_000015.10:69444945:G:A p.(Val846Ile) NC_000015.10:69444945:G:A p.(Val846Ile) NC_000015.10:69444945:G:A Identity +NM_000632.4:c.1951G>A NP_000623.2:p.Val651Ile NC_000016.10:31321575:G:A p.(Val651Ile) NC_000016.10:31321575:G:A p.(Val651Ile) NC_000016.10:31321575:G:A Identity +NM_001202504.1:c.386G>C NP_001189433.1:p.Gly129Ala NC_000018.10:79704887:G:C p.(Gly129Ala) NC_000018.10:79704887:G:C p.(Gly129Ala) NC_000018.10:79704887:G:C Identity +NM_001110556.2:c.4706C>A NP_001104026.1:p.Thr1569Asn NC_000023.11:154358247:G:T p.(Thr1569Asn) NC_000023.11:154358247:G:T p.(Thr1569Asn) NC_000023.11:154358247:G:T Identity +NM_000195.5:c.435G>A NP_000186.2:p.Leu145= NC_000010.11:98434054:C:T p.(Leu145=) NC_000010.11:98434054:C:T p.(Leu145=) NC_000010.11:98434054:C:T Identity +NM_139057.4:c.1471G>A NP_620688.2:p.Glu491Lys NC_000015.10:100152613:C:T p.(Glu491Lys) NC_000015.10:100152613:C:T p.(Glu491Lys) NC_000015.10:100152613:C:T Identity +NM_001243254.2:c.2359G>T NP_001230183.1:p.Val787Leu NC_000011.10:9160789:C:A p.(Val787Leu) NC_000011.10:9160789:C:A p.(Val787Leu) NC_000011.10:9160789:C:A Identity +NM_001319667.1:c.376C>T NP_001306596.1:p.Arg126Cys NC_000001.11:169470014:G:A p.(Arg126Cys) NC_000001.11:169470014:G:A p.(Arg126Cys) NC_000001.11:169470014:G:A Identity +NM_001243027.3:c.854G>A NP_001229956.1:p.Arg285His NC_000019.10:40236024:C:T p.(Arg285His) NC_000019.10:40236024:C:T p.(Arg285His) NC_000019.10:40236024:C:T Identity +NM_001308258.2:c.712G>T NP_001295187.1:p.Ala238Ser NC_000003.12:149150641:G:T p.(Ala238Ser) NC_000003.12:149150641:G:T p.(Ala238Ser) NC_000003.12:149150641:G:T Identity +NM_001127496.3:c.388C>T NP_001120968.1:p.Arg130Cys NC_000005.10:142314720:G:A p.(Arg130Cys) NC_000005.10:142314720:G:A p.(Arg130Cys) NC_000005.10:142314720:G:A Identity +NM_001348081.2:c.80G>A NP_001335010.1:p.Arg27His NC_000008.11:13499991:C:T p.(Arg27His) NC_000008.11:13499991:C:T p.(Arg27His) NC_000008.11:13499991:C:T Identity +NM_001291285.3:c.10483A>G NP_001278214.1:p.Ser3495Gly NC_000004.12:125451492:A:G p.(Ser3495Gly) NC_000004.12:125451492:A:G p.(Ser3495Gly) NC_000004.12:125451492:A:G Identity +NM_001320923.2:c.1375G>A NP_001307852.1:p.Glu459Lys NC_000001.11:64857738:C:T p.(Glu459Lys) NC_000001.11:64857738:C:T p.(Glu459Lys) NC_000001.11:64857738:C:T Identity +NM_001346279.2:c.3371G>A NP_001333208.1:p.Gly1124Glu NC_000011.10:10779025:G:A p.(Gly1124Glu) NC_000011.10:10779025:G:A p.(Gly1124Glu) NC_000011.10:10779025:G:A Identity +NM_025114.4:c.4619A>G NP_079390.3:p.Gln1540Arg NC_000012.12:88084670:T:C p.(Gln1540Arg) NC_000012.12:88084670:T:C p.(Gln1540Arg) NC_000012.12:88084670:T:C Identity +NM_005502.4:c.467G>T NP_005493.2:p.Gly156Val NC_000009.12:104861754:C:A p.(Gly156Val) NC_000009.12:104861754:C:A p.(Gly156Val) NC_000009.12:104861754:C:A Identity +NM_001184900.3:c.1085C>T NP_001171829.1:p.Ser362Leu NC_000019.10:48221805:G:A p.(Ser362Leu) NC_000019.10:48221805:G:A p.(Ser362Leu) NC_000019.10:48221805:G:A Identity +NM_001135040.3:c.280A>G NP_001128512.1:p.Ile94Val NC_000002.12:74377725:T:C p.(Ile94Val) NC_000002.12:74377725:T:C p.(Ile94Val) NC_000002.12:74377725:T:C Identity +NM_001365684.2:c.5963C>T NP_001352613.2:p.Pro1988Leu NC_000005.10:177294203:C:T p.(Pro1988Leu) NC_000005.10:177294203:C:T p.(Pro1988Leu) NC_000005.10:177294203:C:T Identity +NM_000323.2:c.1301G>A NP_000314.1:p.Ser434Asn NC_000010.11:43111243:G:A ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001145901.2:c.187T>C NP_001139373.1:p.Phe63Leu NC_000019.10:38930549:A:G p.(Phe63Leu) NC_000019.10:38930549:A:G p.(Phe63Leu) NC_000019.10:38930549:A:G Identity +NM_000550.3:c.1319T>A NP_000541.1:p.Met440Lys NC_000009.12:12708053:T:A p.(Met440Lys) NC_000009.12:12708053:T:A p.(Met440Lys) NC_000009.12:12708053:T:A Identity +NM_005720.4:c.647G>A NP_005711.1:p.Arg216His NC_000007.14:99391038:G:A p.(Arg216His) NC_000007.14:99391038:G:A p.(Arg216His) NC_000007.14:99391038:G:A Identity +NM_022725.4:c.50T>C NP_073562.1:p.Val17Ala NC_000011.10:22625760:A:G p.(Val17Ala) NC_000011.10:22625760:A:G p.(Val17Ala) NC_000011.10:22625760:A:G Identity +NM_001286613.2:c.1187G>A NP_001273542.1:p.Arg396His NC_000006.12:109450360:C:T p.(Arg396His) NC_000006.12:109450360:C:T p.(Arg396His) NC_000006.12:109450360:C:T Identity +NM_001081640.2:c.11089A>G NP_001075109.1:p.Asn3697Asp NC_000008.11:47785130:T:C p.(Asn3697Asp) NC_000008.11:47785130:T:C p.(Asn3697Asp) NC_000008.11:47785130:T:C Identity +NM_000554.6:c.133A>G NP_000545.1:p.Thr45Ala NC_000019.10:47836274:A:G p.(Thr45Ala) NC_000019.10:47836274:A:G p.(Thr45Ala) NC_000019.10:47836274:A:G Identity +NM_000398.7:c.577G>A NP_000389.1:p.Ala193Thr NC_000022.11:42627359:C:T p.(Ala193Thr) NC_000022.11:42627359:C:T p.(Ala193Thr) NC_000022.11:42627359:C:T Identity +NM_001411101.1:c.1628C>T NP_001398030.1:p.Thr543Met NC_000017.11:82900679:C:T p.(Thr543Met) NC_000017.11:82900679:C:T p.(Thr543Met) NC_000017.11:82900679:C:T Identity +NM_015909.4:c.2504C>T NP_056993.2:p.Thr835Ile NC_000002.12:15424387:G:A p.(Thr835Ile) NC_000002.12:15424387:G:A p.(Thr835Ile) NC_000002.12:15424387:G:A Identity +NM_001144881.2:c.2218G>A NP_001138353.1:p.Asp740Asn NC_000012.12:42460086:C:T p.(Asp740Asn) NC_000012.12:42460086:C:T p.(Asp740Asn) NC_000012.12:42460086:C:T Identity +NM_001293557.2:c.2606G>A NP_001280486.1:p.Arg869Gln NC_000016.10:50719980:G:A p.(Arg869Gln) NC_000016.10:50719980:G:A p.(Arg869Gln) NC_000016.10:50719980:G:A Identity +NM_001351846.2:c.364C>T NP_001338775.1:p.Arg122Trp NC_000016.10:1495373:C:T p.(Arg122Trp) NC_000016.10:1495373:C:T p.(Arg122Trp) NC_000016.10:1495373:C:T Identity +NM_000419.5:c.1558A>T NP_000410.2:p.Met520Leu NC_000017.11:44380287:T:A p.(Met520Leu) NC_000017.11:44380287:T:A p.(Met520Leu) NC_000017.11:44380287:T:A Identity +NM_001080973.1:c.1319G>T NP_001074442.1:p.Gly440Val NC_000003.12:57098383:C:A ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found +NM_130466.4:c.1459T>C NP_569733.2:p.Tyr487His NC_000012.12:109507571:T:C p.(Tyr487His) NC_000012.12:109507571:T:C p.(Tyr487His) NC_000012.12:109507571:T:C Identity +NM_001130455.2:c.500C>G NP_001123927.1:p.Thr167Ser NC_000002.12:71513754:C:G p.(Thr167Ser) NC_000002.12:71513754:C:G p.(Thr167Ser) NC_000002.12:71513754:C:G Identity +NM_001190241.2:c.1672C>G NP_001177170.1:p.Leu558Val NC_000003.12:160277321:G:C p.(Leu558Val) NC_000003.12:160277321:G:C p.(Leu558Val) NC_000003.12:160277321:G:C Identity +NM_001363671.2:c.1280A>T NP_001350600.1:p.Gln427Leu NC_000007.14:100106778:A:T p.(Gln427Leu) NC_000007.14:100106778:A:T p.(Gln427Leu) NC_000007.14:100106778:A:T Identity +NM_001384158.1:c.628A>G NP_001371087.1:p.Ile210Val NC_000014.9:91891334:T:C p.(Ile210Val) NC_000014.9:91891334:T:C p.(Ile210Val) NC_000014.9:91891334:T:C Identity +NM_001130438.3:c.3877G>T NP_001123910.1:p.Gly1293Cys NC_000009.12:128605307:G:T p.(Gly1293Cys) NC_000009.12:128605307:G:T p.(Gly1293Cys) NC_000009.12:128605307:G:T Identity +NM_001190799.2:c.191A>G NP_001177728.1:p.Glu64Gly NC_000004.12:127883502:A:G p.(Glu64Gly) NC_000004.12:127883502:A:G p.(Glu64Gly) NC_000004.12:127883502:A:G Identity +NM_001122633.3:c.334C>G NP_001116105.2:p.Leu112Val NC_000002.12:210576442:C:G p.(Leu112Val) NC_000002.12:210576442:C:G p.(Leu112Val) NC_000002.12:210576442:C:G Identity +NM_001271933.2:c.3248C>G NP_001258862.1:p.Ser1083Cys NC_000011.10:117396571:C:G p.(Ser1083Cys) NC_000011.10:117396571:C:G p.(Ser1083Cys) NC_000011.10:117396571:C:G Identity +NM_001035.3:c.2430A>C NP_001026.2:p.Glu810Asp NC_000001.11:237503321:A:C p.(Glu810Asp) NC_000001.11:237503321:A:C p.(Glu810Asp) NC_000001.11:237503321:A:C Identity +NM_001378454.1:c.6317C>T NP_001365383.1:p.Pro2106Leu NC_000002.12:73452843:C:T p.(Pro2106Leu) NC_000002.12:73452843:C:T p.(Pro2106Leu) NC_000002.12:73452843:C:T Identity +NM_001143990.2:c.1631T>A NP_001137462.1:p.Val544Glu NC_000017.11:7703469:T:A p.(Val544Glu) NC_000017.11:7703469:T:A p.(Val544Glu) NC_000017.11:7703469:T:A Identity +NM_001286613.2:c.1048C>T NP_001273542.1:p.Gln350Ter NC_000006.12:109450499:G:A p.(Gln350Ter) NC_000006.12:109450499:G:A p.(Gln350Ter) NC_000006.12:109450499:G:A Identity +NM_001014796.3:c.757G>A NP_001014796.1:p.Gly253Ser NC_000001.11:162759880:G:A p.(Gly253Ser) NC_000001.11:162759880:G:A p.(Gly253Ser) NC_000001.11:162759880:G:A Identity +NM_001013840.1:c.961C>T NP_001013862.1:p.Leu321Phe NC_000010.11:95685617:G:A ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001013840.1, alt_ac=NM_001013840.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001013840.1 not found +NM_001278055.2:c.1261G>A NP_001264984.1:p.Asp421Asn NC_000013.11:23354909:C:T p.(Asp421Asn) NC_000013.11:23354909:C:T p.(Asp421Asn) NC_000013.11:23354909:C:T Identity +NM_014804.3:c.757C>T NP_055619.2:p.Arg253Ter NC_000017.11:6624822:G:A p.(Arg253Ter) NC_000017.11:6624822:G:A p.(Arg253Ter) NC_000017.11:6624822:G:A Identity +NM_001243254.2:c.1510GAA[2] NP_001230183.1:p.Glu506del NC_000011.10:9179010:TTCTTCTTC:TTCTTC p.(Glu506del) NC_000011.10:9179018:C:TTCTTC ERR:Parse ERR:Parse Identity +NM_000342.4:c.2570T>C NP_000333.1:p.Leu857Pro NC_000017.11:44251243:A:G p.(Leu857Pro) NC_000017.11:44251243:A:G p.(Leu857Pro) NC_000017.11:44251243:A:G Identity +NM_014423.4:c.1562C>G NP_055238.1:p.Pro521Arg NC_000005.10:132897067:G:C p.(Pro521Arg) NC_000005.10:132897067:G:C p.(Pro521Arg) NC_000005.10:132897067:G:C Identity +NM_000833.5:c.3622C>T NP_000824.1:p.Arg1208Trp NC_000016.10:9763921:G:A p.(Arg1208Trp) NC_000016.10:9763921:G:A p.(Arg1208Trp) NC_000016.10:9763921:G:A Identity +NM_015378.4:c.9299C>T NP_056193.2:p.Ala3100Val NC_000001.11:12349241:C:T p.(Ala3100Val) NC_000001.11:12349241:C:T p.(Ala3100Val) NC_000001.11:12349241:C:T Identity +NM_013432.5:c.2318C>T NP_038460.4:p.Thr773Met NC_000008.11:144436114:G:A p.(Thr773Met) NC_000008.11:144436114:G:A p.(Thr773Met) NC_000008.11:144436114:G:A Identity +NM_001163257.2:c.2576G>A NP_001156729.1:p.Ser859Asn NC_000023.11:153771644:G:A p.(Ser859Asn) NC_000023.11:153771644:G:A p.(Ser859Asn) NC_000023.11:153771644:G:A Identity +NM_001170629.2:c.5272C>T NP_001164100.1:p.Arg1758Cys NC_000014.9:21395029:G:A p.(Arg1758Cys) NC_000014.9:21395029:G:A p.(Arg1758Cys) NC_000014.9:21395029:G:A Identity +NM_001378418.1:c.4886A>G NP_001365347.1:p.Lys1629Arg NC_000022.11:42210419:T:C p.(Lys1629Arg) NC_000022.11:42210419:T:C p.(Lys1629Arg) NC_000022.11:42210419:T:C Identity +NM_001122955.4:c.547G>A NP_001116427.1:p.Val183Met NC_000011.10:62694650:C:T p.(Val183Met) NC_000011.10:62694650:C:T p.(Val183Met) NC_000011.10:62694650:C:T Identity +NM_022168.4:c.2730C>A NP_071451.2:p.Cys910Ter NC_000002.12:162268163:G:T p.(Cys910Ter) NC_000002.12:162268163:G:T p.(Cys910Ter) NC_000002.12:162268163:G:T Identity +NM_015384.5:c.1345dup NP_056199.2:p.Gln449fs NC_000005.10:36976248:CCCC:CCCCC p.(Gln449ProfsTer19) NC_000005.10:36976248:CCCC:CCCCC p.(Gln449ProfsTer19) ERR:SPDI Analogous +NM_001411148.1:c.2763_2779del17 NP_001398077.1:p.Val922Argfs NC_000019.10:5144074:GGCGTGCTCATGGAGCCGG:GG p.(Val922ArgfsTer71) NC_000019.10:5144074:GGCGTGCTCATGGAGCCGG:GG p.(Val922ArgfsTer71) NC_000019.10:5144076:CGTGCTCATGGAGCCGG: Analogous +NM_001170629.2:c.1835C>G NP_001164100.1:p.Pro612Arg NC_000014.9:21415788:G:C p.(Pro612Arg) NC_000014.9:21415788:G:C p.(Pro612Arg) NC_000014.9:21415788:G:C Identity +NM_001042355.2:c.635T>C NP_001035814.1:p.Leu212Ser NC_000016.10:50751733:T:C p.(Leu212Ser) NC_000016.10:50751733:T:C p.(Leu212Ser) NC_000016.10:50751733:T:C Identity +NM_001363989.1:c.1442C>G NP_001350918.1:p.Ser481Cys NC_000005.10:150223012:G:C p.(Ser481Cys) NC_000005.10:150223012:G:C p.(Ser481Cys) NC_000005.10:150223012:G:C Identity +NM_000052.7:c.3039G>A NP_000043.4:p.Met1013Ile NC_000023.11:78029371:G:A p.(Met1013Ile) NC_000023.11:78029371:G:A p.(Met1013Ile) NC_000023.11:78029371:G:A Identity +NM_000155.4:c.302C>G NP_000146.2:p.Ala101Gly NC_000009.12:34647540:C:G p.(Ala101Gly) NC_000009.12:34647540:C:G p.(Ala101Gly) NC_000009.12:34647540:C:G Identity +NM_000833.5:c.1211A>G NP_000824.1:p.Asn404Ser NC_000016.10:9849872:T:C p.(Asn404Ser) NC_000016.10:9849872:T:C p.(Asn404Ser) NC_000016.10:9849872:T:C Identity +NM_001131010.4:c.2009C>G NP_001124482.1:p.Pro670Arg NC_000003.12:18349452:G:C p.(Pro670Arg) NC_000003.12:18349452:G:C p.(Pro670Arg) NC_000003.12:18349452:G:C Identity +NM_001083962.2:c.1144_1145del NP_001077431.1:p.Leu382fs NC_000018.10:55257315:AAA:A p.(Leu382AlafsTer5) NC_000018.10:55257315:AAA:A p.(Leu382AlafsTer5) NC_000018.10:55257315:AA: Analogous +NM_031454.2:c.441G>C NP_113642.1:p.Gln147His NC_000022.11:50201476:G:C p.(Gln147His) NC_000022.11:50201476:G:C p.? NC_000022.11:50201476:G:C Identity +NM_003052.5:c.1840G>T NP_003043.3:p.Val614Phe NC_000005.10:177398205:G:T p.(Val614Phe) NC_000005.10:177398205:G:T p.(Val614Phe) NC_000005.10:177398205:G:T Identity +NM_003680.4:c.405A>T NP_003671.1:p.Arg135Ser NC_000001.11:32806586:T:A p.(Arg135Ser) NC_000001.11:32806586:T:A p.(Arg135Ser) NC_000001.11:32806586:T:A Identity +NM_001282489.3:c.298C>T NP_001269418.1:p.Gln100Ter NC_000017.11:74920228:G:A p.(Gln100Ter) NC_000017.11:74920228:G:A p.(Gln100Ter) NC_000017.11:74920228:G:A Identity +NM_018451.5:c.505_506del NP_060921.3:p.Gln169fs NC_000013.11:24912007:TGT:T p.(Gln169GlufsTer27) NC_000013.11:24912007:TGT:T p.(Gln169GlufsTer27) NC_000013.11:24912007:TG: Analogous +NM_001256053.2:c.4996G>A NP_001242982.1:p.Ala1666Thr NC_000010.11:27006916:C:T p.(Ala1666Thr) NC_000010.11:27006916:C:T p.(Ala1666Thr) NC_000010.11:27006916:C:T Identity +NM_001413831.1:c.1300C>T NP_001400760.1:p.Arg434Cys NC_000012.12:15650956:G:A p.(Arg434Cys) NC_000012.12:15650956:G:A p.(Arg434Cys) NC_000012.12:15650956:G:A Identity +NM_001111125.3:c.2815C>T NP_001104595.1:p.Arg939Cys NC_000023.11:53243405:G:A p.(Arg939Cys) NC_000023.11:53243405:G:A p.(Arg939Cys) NC_000023.11:53243405:G:A Identity +NM_001256850.1:c.5263A>G NP_001243779.1:p.Asn1755Asp NC_000002.12:178776600:T:C p.(Asn1755Asp) NC_000002.12:178776600:T:C p.(Asn1755Asp) NC_000002.12:178776600:T:C Identity +NM_001166247.1:c.2532C>G NP_001159719.1:p.Tyr844Ter NC_000006.12:102055549:C:G p.(Tyr844Ter) NC_000006.12:102055549:C:G p.(Tyr844Ter) NC_000006.12:102055549:C:G Identity +NM_001080463.2:c.2183G>A NP_001073932.1:p.Gly728Asp NC_000011.10:103134396:G:A p.(Gly728Asp) NC_000011.10:103134396:G:A p.(Gly728Asp) NC_000011.10:103134396:G:A Identity +NM_006208.3:c.2746del NP_006199.2:p.Thr916fs NC_000006.12:131890475:AAAA:AAA p.(Thr916HisfsTer23) NC_000006.12:131890475:AAAA:AAA p.(Thr916HisfsTer23) NC_000006.12:131890478:A: Analogous +NM_001853.4:c.5C>T NP_001844.3:p.Ala2Val NC_000020.11:62817068:C:T p.(Ala2Val) NC_000020.11:62817068:C:T p.(Ala2Val) NC_000020.11:62817068:C:T Identity +NM_001330360.2:c.1627C>T NP_001317289.1:p.Leu543Phe NC_000023.11:24727876:C:T p.(Leu543Phe) NC_000023.11:24727876:C:T p.(Leu543Phe) NC_000023.11:24727876:C:T Identity +NM_030665.4:c.1063T>C NP_109590.3:p.Ser355Pro NC_000017.11:17794010:T:C p.(Ser355Pro) NC_000017.11:17794010:T:C p.(Ser355Pro) NC_000017.11:17794010:T:C Identity +NM_000376.3:c.1088T>C NP_000367.1:p.Leu363Pro NC_000012.12:47844941:A:G p.(Leu363Pro) NC_000012.12:47844941:A:G p.(Leu363Pro) NC_000012.12:47844941:A:G Identity +NM_001282534.2:c.80A>C NP_001269463.1:p.Asp27Ala NC_000008.11:139702912:T:G p.(Asp27Ala) NC_000008.11:139702912:T:G p.(Asp27Ala) NC_000008.11:139702912:T:G Identity +NM_001131010.4:c.315G>A NP_001124482.1:p.Met105Ile NC_000003.12:18416974:C:T p.(Met105Ile) NC_000003.12:18416974:C:T p.(Met105Ile) NC_000003.12:18416974:C:T Identity +NM_001243372.2:c.945T>A NP_001230301.1:p.Tyr315Ter NC_000004.12:169697196:T:A p.(Tyr315Ter) NC_000004.12:169697196:T:A p.(Tyr315Ter) NC_000004.12:169697196:T:A Identity +NM_000393.5:c.3755C>T NP_000384.2:p.Thr1252Ile NC_000002.12:189039441:G:A p.(Thr1252Ile) NC_000002.12:189039441:G:A p.(Thr1252Ile) NC_000002.12:189039441:G:A Identity +NM_000810.4:c.898A>G NP_000801.1:p.Met300Val NC_000015.10:26943234:A:G p.(Met300Val) NC_000015.10:26943234:A:G p.(Met300Val) NC_000015.10:26943234:A:G Identity +NM_001354507.2:c.880C>A NP_001341436.1:p.Pro294Thr NC_000015.10:25371233:G:T p.(Pro294Thr) NC_000015.10:25371233:G:T p.(Pro294Thr) NC_000015.10:25371233:G:T Identity +NM_001029882.3:c.1122del NP_001025053.1:p.Pro376fs NC_000001.11:27550993:GGGGGGG:GGGGGG p.(Pro376LeufsTer76) NC_000001.11:27550993:GGGGGGG:GGGGGG p.(Pro376LeufsTer76) NC_000001.11:27550993:G: Analogous +NM_001379245.1:c.1711C>G NP_001366174.1:p.Leu571Val NC_000013.11:35109319:C:G p.(Leu571Val) NC_000013.11:35109319:C:G p.(Leu571Val) NC_000013.11:35109319:C:G Identity +NM_014975.3:c.545A>G NP_055790.1:p.Tyr182Cys NC_000019.10:12847667:A:G p.(Tyr182Cys) NC_000019.10:12847667:A:G p.(Tyr182Cys) NC_000019.10:12847667:A:G Identity +NM_000834.5:c.1755T>G NP_000825.2:p.Tyr585Ter NC_000012.12:13611749:A:C p.(Tyr585Ter) NC_000012.12:13611749:A:C p.(Tyr585Ter) NC_000012.12:13611749:A:C Identity +NM_006015.6:c.3206A>G NP_006006.3:p.Lys1069Arg NC_000001.11:26771125:A:G p.(Lys1069Arg) NC_000001.11:26771125:A:G p.(Lys1069Arg) NC_000001.11:26771125:A:G Identity +NM_001376.5:c.10637A>G NP_001367.2:p.Asp3546Gly NC_000014.9:102034334:A:G p.(Asp3546Gly) NC_000014.9:102034334:A:G p.(Asp3546Gly) NC_000014.9:102034334:A:G Identity +NM_001349370.3:c.4332T>G NP_001336299.1:p.Asn1444Lys NC_000003.12:47116744:A:C p.(Asn1444Lys) NC_000003.12:47116744:A:C p.(Asn1444Lys) NC_000003.12:47116744:A:C Identity +NM_001110792.2:c.60A>C NP_001104262.1:p.Arg20Ser NC_000023.11:154097605:T:G p.(Arg20Ser) NC_000023.11:154097605:T:G p.(Arg20Ser) NC_000023.11:154097605:T:G Identity +NM_000328.3:c.1587del NP_000319.1:p.Ile529fs NC_000023.11:38288026:AA:A p.(Ile529MetfsTer4) NC_000023.11:38288026:AA:A p.(Ile529MetfsTer4) NC_000023.11:38288026:A: Analogous +NM_001165963.4:c.3038_3044del NP_001159435.1:p.Gln1013fs NC_000002.12:166036432:GCAATTTG:G p.(Gln1013LeufsTer9) NC_000002.12:166036432:GCAATTTG:G p.(Gln1013LeufsTer9) NC_000002.12:166036432:GCAATTT: Analogous +NM_001394372.1:c.145C>T NP_001381301.1:p.Pro49Ser NC_000019.10:47675910:C:T p.(Pro49Ser) NC_000019.10:47675910:C:T p.(Pro49Ser) NC_000019.10:47675910:C:T Identity +NM_000328.3:c.758A>G NP_000319.1:p.Glu253Gly NC_000023.11:38310634:T:C p.(Glu253Gly) NC_000023.11:38310634:T:C p.(Glu253Gly) NC_000023.11:38310634:T:C Identity +NM_001105562.3:c.3307C>T NP_001099032.1:p.Gln1103Ter NC_000001.11:10168243:C:T p.(Gln1103Ter) NC_000001.11:10168243:C:T p.(Gln1103Ter) NC_000001.11:10168243:C:T Identity +NM_001029882.3:c.2587G>T NP_001025053.1:p.Glu863Ter NC_000001.11:27549528:C:A p.(Glu863Ter) NC_000001.11:27549528:C:A p.(Glu863Ter) NC_000001.11:27549528:C:A Identity +NM_001369346.1:c.433A>C NP_001356275.1:p.Ser145Arg NC_000002.12:25768765:T:G p.(Ser145Arg) NC_000002.12:25768765:T:G p.(Ser145Arg) NC_000002.12:25768765:T:G Identity +NM_153252.5:c.4510G>A NP_694984.5:p.Glu1504Lys NC_000023.11:80681484:C:T p.(Glu1504Lys) NC_000023.11:80681484:C:T p.(Glu1504Lys) NC_000023.11:80681484:C:T Identity +NM_001220.5:c.1528G>T NP_001211.3:p.Glu510Ter NC_000007.14:44226584:C:A p.(Glu510Ter) NC_000007.14:44226584:C:A p.(Glu510Ter) NC_000007.14:44226584:C:A Identity +NM_001134778.2:c.572A>C NP_001128250.1:p.Glu191Ala NC_000009.12:125935560:A:C p.(Glu191Ala) NC_000009.12:125935560:A:C p.(Glu191Ala) NC_000009.12:125935560:A:C Identity +NM_015384.5:c.6534G>A NP_056199.2:p.Met2178Ile NC_000005.10:37046143:G:A p.(Met2178Ile) NC_000005.10:37046143:G:A p.(Met2178Ile) NC_000005.10:37046143:G:A Identity +NM_000266.4:c.388G>T NP_000257.1:p.Glu130Ter NC_000023.11:43949812:C:A p.(Glu130Ter) NC_000023.11:43949812:C:A p.(Glu130Ter) NC_000023.11:43949812:C:A Identity +NM_024496.4:c.1510T>A NP_078772.1:p.Cys504Ser NC_000014.9:77026282:A:T p.(Cys504Ser) NC_000014.9:77026282:A:T p.(Cys504Ser) NC_000014.9:77026282:A:T Identity +NM_001040142.2:c.4192T>A NP_001035232.1:p.Trp1398Arg NC_000002.12:165374903:T:A p.(Trp1398Arg) NC_000002.12:165374903:T:A p.(Trp1398Arg) NC_000002.12:165374903:T:A Identity +NM_001194937.2:c.3706G>T NP_001181866.1:p.Ala1236Ser NC_000001.11:151405301:C:A p.(Ala1236Ser) NC_000001.11:151405301:C:A p.(Ala1236Ser) NC_000001.11:151405301:C:A Identity +NM_001378633.1:c.120G>A NP_001365562.1:p.Met40Ile NC_000020.11:25076545:C:T p.(Met40Ile) NC_000020.11:25076545:C:T p.(Met40Ile) NC_000020.11:25076545:C:T Identity +NM_000944.5:c.1421A>C NP_000935.1:p.Lys474Thr NC_000004.12:101026009:T:G p.(Lys474Thr) NC_000004.12:101026009:T:G p.(Lys474Thr) NC_000004.12:101026009:T:G Identity +NM_001184.4:c.3418A>G NP_001175.2:p.Ser1140Gly NC_000003.12:142542696:T:C p.(Ser1140Gly) NC_000003.12:142542696:T:C p.(Ser1140Gly) NC_000003.12:142542696:T:C Identity +NM_170606.3:c.13477T>C NP_733751.2:p.Cys4493Arg NC_000007.14:152148449:A:G p.(Cys4493Arg) NC_000007.14:152148449:A:G p.(Cys4493Arg) NC_000007.14:152148449:A:G Identity +NM_134261.3:c.147C>G NP_599023.1:p.Ser49Arg NC_000015.10:61229071:G:C p.(Ser49Arg) NC_000015.10:61229071:G:C p.(Ser49Arg) NC_000015.10:61229071:G:C Identity +NM_014727.3:c.5845A>G NP_055542.1:p.Thr1949Ala NC_000019.10:35732393:A:G p.(Thr1949Ala) NC_000019.10:35732393:A:G p.(Thr1949Ala) NC_000019.10:35732393:A:G Identity +NM_000038.6:c.4048A>G NP_000029.2:p.Lys1350Glu NC_000005.10:112839641:A:G p.(Lys1350Glu) NC_000005.10:112839641:A:G p.(Lys1350Glu) NC_000005.10:112839641:A:G Identity +NM_001410746.1:c.2123A>G NP_001397675.1:p.Glu708Gly NC_000003.12:42664392:A:G p.(Glu708Gly) NC_000003.12:42664392:A:G p.(Glu708Gly) NC_000003.12:42664392:A:G Identity +NM_001204403.2:c.613C>T NP_001191332.1:p.Arg205Ter NC_000010.11:60263902:G:A p.(Arg205Ter) NC_000010.11:60263902:G:A p.(Arg205Ter) NC_000010.11:60263902:G:A Identity +NM_001089.3:c.3279G>C NP_001080.2:p.Glu1093Asp NC_000016.10:2285645:C:G p.(Glu1093Asp) NC_000016.10:2285645:C:G p.(Glu1093Asp) NC_000016.10:2285645:C:G Identity +NM_001284214.2:c.4412C>A NP_001271143.1:p.Pro1471Gln NC_000002.12:229791173:G:T p.(Pro1471Gln) NC_000002.12:229791173:G:T p.(Pro1471Gln) NC_000002.12:229791173:G:T Identity +NM_001077186.2:c.1517C>A NP_001070654.1:p.Thr506Asn NC_000019.10:50249683:C:A p.(Thr506Asn) NC_000019.10:50249683:C:A p.(Thr506Asn) NC_000019.10:50249683:C:A Identity +NM_001371271.1:c.3095G>A NP_001358200.1:p.Ser1032Asn NC_000002.12:120989008:G:A p.(Ser1032Asn) NC_000002.12:120989008:G:A p.(Ser1032Asn) NC_000002.12:120989008:G:A Identity +NM_001195227.2:c.716C>T NP_001182156.1:p.Thr239Ile NC_000019.10:49168655:C:T p.(Thr239Ile) NC_000019.10:49168655:C:T p.(Thr239Ile) NC_000019.10:49168655:C:T Identity +NM_017433.5:c.3334G>A NP_059129.3:p.Ala1112Thr NC_000010.11:26170474:G:A p.(Ala1112Thr) NC_000010.11:26170474:G:A p.(Ala1112Thr) NC_000010.11:26170474:G:A Identity +NM_001163435.3:c.1397A>T NP_001156907.2:p.Asp466Val NC_000004.12:106235320:T:A p.(Asp466Val) NC_000004.12:106235320:T:A p.(Asp466Val) NC_000004.12:106235320:T:A Identity +NM_001354263.2:c.2831G>A NP_001341192.1:p.Arg944His NC_000009.12:137811599:G:A p.(Arg944His) NC_000009.12:137811599:G:A p.(Arg944His) NC_000009.12:137811599:G:A Identity +NM_001378454.1:c.3911G>A NP_001365383.1:p.Ser1304Asn NC_000002.12:73450437:G:A p.(Ser1304Asn) NC_000002.12:73450437:G:A p.(Ser1304Asn) NC_000002.12:73450437:G:A Identity +NM_000155.4:c.55G>C NP_000146.2:p.Ala19Pro NC_000009.12:34646758:G:C p.(Ala19Pro) NC_000009.12:34646758:G:C p.(Ala19Pro) NC_000009.12:34646758:G:C Identity +NM_000091.5:c.3040C>G NP_000082.2:p.Pro1014Ala NC_000002.12:227290057:C:G p.(Pro1014Ala) NC_000002.12:227290057:C:G p.(Pro1014Ala) NC_000002.12:227290057:C:G Identity +NM_001301110.2:c.4729G>C NP_001288039.1:p.Asp1577His NC_000015.10:84031406:G:C p.(Asp1577His) NC_000015.10:84031406:G:C p.(Asp1577His) NC_000015.10:84031406:G:C Identity +NM_000059.4:c.2495_2502del NP_000050.3:p.Glu832fs NC_000013.11:32336845:GTTGAGCTGTTG:GTTG p.(Glu832AlafsTer3) NC_000013.11:32336845:GTTGAGCTGTTG:GTTG p.(Glu832AlafsTer3) NC_000013.11:32336849:AGCTGTTG: Analogous +NM_017841.4:c.479_482del NP_060311.1:p.Tyr160fs NC_000011.10:61446047:TACCT:T p.(Tyr160SerfsTer22) NC_000011.10:61446047:TACCT:T p.(Tyr160SerfsTer22) NC_000011.10:61446048:ACCT: Analogous +NM_001122606.1:c.413A>G NP_001116078.1:p.Asp138Gly NC_000023.11:120449112:T:C p.(Asp138Gly) NC_000023.11:120449112:T:C p.(Asp138Gly) NC_000023.11:120449112:T:C Identity +NM_032043.3:c.2082del NP_114432.2:p.Leu695fs NC_000017.11:61776415:G: p.(Leu695CysfsTer7) NC_000017.11:61776415:G: p.(Leu695CysfsTer7) NC_000017.11:61776415:G: Analogous +NM_001290307.3:c.1474dup NP_001277236.1:p.Glu492fs NC_000005.10:138917823:GGG:GGGG p.(Glu492GlyfsTer13) NC_000005.10:138917823:GGG:GGGG p.(Glu492GlyfsTer13) ERR:SPDI Analogous +NM_001197104.2:c.9794T>A NP_001184033.1:p.Leu3265His NC_000011.10:118505685:T:A p.(Leu3265His) NC_000011.10:118505685:T:A p.(Leu3265His) NC_000011.10:118505685:T:A Identity +NM_001069.3:c.935C>G NP_001060.1:p.Thr312Arg NC_000006.12:3154265:G:C p.(Thr312Arg) NC_000006.12:3154265:G:C p.(Thr312Arg) NC_000006.12:3154265:G:C Identity +NM_000166.6:c.88A>T NP_000157.1:p.Ile30Phe NC_000023.11:71223794:A:T p.(Ile30Phe) NC_000023.11:71223794:A:T p.(Ile30Phe) NC_000023.11:71223794:A:T Identity +NM_000088.4:c.2848G>A NP_000079.2:p.Gly950Arg NC_000017.11:50189256:C:T p.(Gly950Arg) NC_000017.11:50189256:C:T p.(Gly950Arg) NC_000017.11:50189256:C:T Identity +NM_000179.3:c.683A>T NP_000170.1:p.Glu228Val NC_000002.12:47798665:A:T p.(Glu228Val) NC_000002.12:47798665:A:T p.(Glu228Val) NC_000002.12:47798665:A:T Identity +NM_004360.5:c.1319del NP_004351.1:p.Lys440fs NC_000016.10:68813491:AAA:AA p.(Lys440ArgfsTer15) NC_000016.10:68813491:AAA:AA p.(Lys440ArgfsTer15) NC_000016.10:68813493:A: Analogous +NM_015295.3:c.5572A>G NP_056110.2:p.Thr1858Ala NC_000018.10:2784473:A:G p.(Thr1858Ala) NC_000018.10:2784473:A:G p.(Thr1858Ala) NC_000018.10:2784473:A:G Identity +NM_001284333.3:c.416C>T NP_001271262.1:p.Ala139Val NC_000017.11:62536221:C:T p.(Ala139Val) NC_000017.11:62536221:C:T p.(Ala139Val) NC_000017.11:62536221:C:T Identity +NM_001256850.1:c.47696A>G NP_001243779.1:p.Tyr15899Cys NC_000002.12:178608263:T:C p.(Tyr15899Cys) NC_000002.12:178608263:T:C p.(Tyr15899Cys) NC_000002.12:178608263:T:C Identity +NM_000427.3:c.736G>C NP_000418.2:p.Gly246Arg NC_000001.11:153261684:G:C p.(Gly246Arg) NC_000001.11:153261684:G:C p.(Gly246Arg) NC_000001.11:153261684:G:C Identity +NM_001368395.3:c.4005T>G NP_001355324.1:p.Ile1335Met NC_000023.11:12718719:T:G p.(Ile1335Met) NC_000023.11:12718719:T:G p.(Ile1335Met) NC_000023.11:12718719:T:G Identity +NM_030665.4:c.282G>T NP_109590.3:p.Arg94Ser NC_000017.11:17793229:G:T p.(Arg94Ser) NC_000017.11:17793229:G:T p.(Arg94Ser) NC_000017.11:17793229:G:T Identity +NM_000233.4:c.993T>A NP_000224.2:p.Tyr331Ter NC_000002.12:48688803:A:T p.(Tyr331Ter) NC_000002.12:48688803:A:T p.(Tyr331Ter) NC_000002.12:48688803:A:T Identity +NM_000512.5:c.976T>C NP_000503.1:p.Trp326Arg NC_000016.10:88832023:A:G p.(Trp326Arg) NC_000016.10:88832023:A:G p.(Trp326Arg) NC_000016.10:88832023:A:G Identity +NM_139285.4:c.2207C>T NP_644814.1:p.Pro736Leu NC_000017.11:35745289:G:A p.(Pro736Leu) NC_000017.11:35745289:G:A p.(Pro736Leu) NC_000017.11:35745289:G:A Identity +NM_001004426.3:c.434A>G NP_001004426.1:p.Asn145Ser NC_000022.11:38143279:T:C p.(Asn145Ser) NC_000022.11:38143279:T:C p.(Asn145Ser) NC_000022.11:38143279:T:C Identity +NM_031407.7:c.9608G>A NP_113584.3:p.Ser3203Asn NC_000023.11:53549385:C:T p.(Ser3203Asn) NC_000023.11:53549385:C:T p.(Ser3203Asn) NC_000023.11:53549385:C:T Identity +NM_153252.5:c.2722A>G NP_694984.5:p.Lys908Glu NC_000023.11:80703592:T:C p.(Lys908Glu) NC_000023.11:80703592:T:C p.(Lys908Glu) NC_000023.11:80703592:T:C Identity +NM_001256850.1:c.35740G>T NP_001243779.1:p.Glu11914Ter NC_000002.12:178640600:C:A p.(Glu11914Ter) NC_000002.12:178640600:C:A p.(Glu11914Ter) NC_000002.12:178640600:C:A Identity +NM_001002292.4:c.913T>C NP_001002292.3:p.Phe305Leu NC_000001.11:68150240:A:G p.(Phe305Leu) NC_000001.11:68150240:A:G p.(Phe305Leu) NC_000001.11:68150240:A:G Identity +NM_001318245.2:c.699dup NP_001305174.1:p.Gly234fs NC_000022.11:25768609:AAAAAA:AAAAAAA p.(Gly234ArgfsTer24) NC_000022.11:25768609:AAAAAA:AAAAAAA p.(Gly234ArgfsTer24) ERR:SPDI Analogous +NM_004752.4:c.442G>A NP_004743.1:p.Ala148Thr NC_000006.12:10876458:C:T p.(Ala148Thr) NC_000006.12:10876458:C:T p.(Ala148Thr) NC_000006.12:10876458:C:T Identity +NM_001252156.2:c.4493dup NP_001239085.1:p.Tyr1498Ter NC_000005.10:154888240:T:TT p.(Tyr1498Ter) NC_000005.10:154888240:T:TT p.(Tyr1498Ter) ERR:SPDI Identity +NM_001142966.3:c.566G>A NP_001136438.1:p.Arg189Lys NC_000018.10:21401182:G:A p.(Arg189Lys) NC_000018.10:21401182:G:A p.(Arg189Lys) NC_000018.10:21401182:G:A Identity +NM_001363744.1:c.271G>A NP_001350673.1:p.Ala91Thr NC_000008.11:16175186:C:T p.(Ala91Thr) NC_000008.11:16175186:C:T p.(Ala91Thr) NC_000008.11:16175186:C:T Identity +NM_004975.4:c.1133T>G NP_004966.1:p.Val378Gly NC_000020.11:49374426:A:C p.(Val378Gly) NC_000020.11:49374426:A:C p.(Val378Gly) NC_000020.11:49374426:A:C Identity +NM_001099679.2:c.865_866insG NP_001093149.1:p.Leu289fs NC_000009.12:116698607::G p.(Leu289ArgfsTer8) NC_000009.12:116698606:C:G p.(Leu289ArgfsTer8) NC_000009.12:116698607:CT:G Analogous +NM_000813.3:c.1165C>G NP_000804.1:p.Pro389Ala NC_000005.10:161294340:G:C p.(Pro389Ala) NC_000005.10:161294340:G:C p.(Pro389Ala) NC_000005.10:161294340:G:C Identity +NM_176818.3:c.128T>C NP_789788.1:p.Leu43Pro NC_000012.12:120446702:T:C p.(Leu43Pro) NC_000012.12:120446702:T:C p.(Leu43Pro) NC_000012.12:120446702:T:C Identity +NM_000157.4:c.1261A>C NP_000148.2:p.Asn421His NC_000001.11:155235807:T:G p.(Asn421His) NC_000001.11:155235807:T:G p.(Asn421His) NC_000001.11:155235807:T:G Identity +NM_001128227.3:c.470T>A NP_001121699.1:p.Met157Lys NC_000009.12:36246269:A:T p.(Met157Lys) NC_000009.12:36246269:A:T p.(Met157Lys) NC_000009.12:36246269:A:T Identity +NM_000157.4:c.812C>A NP_000148.2:p.Ala271Asp NC_000001.11:155237527:G:T p.(Ala271Asp) NC_000001.11:155237527:G:T p.(Ala271Asp) NC_000001.11:155237527:G:T Identity +NM_000169.3:c.370G>T NP_000160.1:p.Val124Phe NC_000023.11:101401808:C:A p.(Val124Phe) NC_000023.11:101401808:C:A p.(Val124Phe) NC_000023.11:101401808:C:A Identity +NM_001164507.2:c.12098del NP_001157979.2:p.Met4033fs NC_000002.12:151610040:A: p.(Met4033SerfsTer33) NC_000002.12:151610040:A: p.(Met4033SerfsTer33) NC_000002.12:151610040:A: Analogous +NM_001142966.3:c.226G>A NP_001136438.1:p.Asp76Asn NC_000018.10:21384273:G:A p.(Asp76Asn) NC_000018.10:21384273:G:A p.(Asp76Asn) NC_000018.10:21384273:G:A Identity +NM_000637.5:c.1486A>C NP_000628.2:p.Lys496Gln NC_000008.11:30679602:T:G p.(Lys496Gln) NC_000008.11:30679602:T:G p.(Lys496Gln) NC_000008.11:30679602:T:G Identity +NM_001410705.1:c.3980C>T NP_001397634.1:p.Thr1327Met NC_000023.11:153954418:G:A p.(Thr1327Met) NC_000023.11:153954418:G:A p.(Thr1327Met) NC_000023.11:153954418:G:A Identity +NM_000175.5:c.91G>C NP_000166.2:p.Asp31His NC_000019.10:34365356:G:C p.(Asp31His) NC_000019.10:34365356:G:C p.(Asp31His) NC_000019.10:34365356:G:C Identity +NM_000512.5:c.31T>C NP_000503.1:p.Trp11Arg NC_000016.10:88856846:A:G p.(Trp11Arg) NC_000016.10:88856846:A:G p.(Trp11Arg) NC_000016.10:88856846:A:G Identity +NM_013334.4:c.280C>G NP_037466.3:p.Arg94Gly NC_000003.12:49723093:G:C p.(Arg94Gly) NC_000003.12:49723093:G:C p.(Arg94Gly) NC_000003.12:49723093:G:C Identity +NM_000037.4:c.5026del NP_000028.3:p.His1676fs NC_000008.11:41672423:GG:G p.(His1676IlefsTer14) NC_000008.11:41672423:GG:G p.(His1676IlefsTer14) NC_000008.11:41672423:G: Analogous +NM_001291860.2:c.7034G>T NP_001278789.1:p.Arg2345Leu NC_000001.11:21851672:C:A p.(Arg2345Leu) NC_000001.11:21851672:C:A p.(Arg2345Leu) NC_000001.11:21851672:C:A Identity +NM_017934.7:c.2039_2040del NP_060404.4:p.Glu680fs NC_000006.12:78997574:CTCT:CT p.(Glu680GlyfsTer12) NC_000006.12:78997574:CTCT:CT p.(Glu680GlyfsTer12) NC_000006.12:78997574:CT: Analogous +NM_001127178.3:c.1363C>T NP_001120650.1:p.Gln455Ter NC_000004.12:521689:C:T p.(Gln455Ter) NC_000004.12:521689:C:T p.(Gln455Ter) NC_000004.12:521689:C:T Identity +NM_001291860.2:c.11555G>C NP_001278789.1:p.Arg3852Pro NC_000001.11:21831224:C:G p.(Arg3852Pro) NC_000001.11:21831224:C:G p.(Arg3852Pro) NC_000001.11:21831224:C:G Identity +NM_001291860.2:c.9686C>T NP_001278789.1:p.Thr3229Met NC_000001.11:21839847:G:A p.(Thr3229Met) NC_000001.11:21839847:G:A p.(Thr3229Met) NC_000001.11:21839847:G:A Identity +NM_000203.5:c.1505G>C NP_000194.2:p.Arg502Pro NC_000004.12:1003137:G:C p.(Arg502Pro) NC_000004.12:1003137:G:C p.(Arg502Pro) NC_000004.12:1003137:G:C Identity +NM_001291860.2:c.10279G>A NP_001278789.1:p.Asp3427Asn NC_000001.11:21836880:C:T p.(Asp3427Asn) NC_000001.11:21836880:C:T p.(Asp3427Asn) NC_000001.11:21836880:C:T Identity +NM_000203.5:c.1304G>A NP_000194.2:p.Arg435His NC_000004.12:1002845:G:A p.(Arg435His) NC_000004.12:1002845:G:A p.(Arg435His) NC_000004.12:1002845:G:A Identity +NM_001291860.2:c.7090G>C NP_001278789.1:p.Val2364Leu NC_000001.11:21851616:C:G p.(Val2364Leu) NC_000001.11:21851616:C:G p.(Val2364Leu) NC_000001.11:21851616:C:G Identity +NM_000203.5:c.487T>C NP_000194.2:p.Tyr163His NC_000004.12:1000982:T:C p.(Tyr163His) NC_000004.12:1000982:T:C p.(Tyr163His) NC_000004.12:1000982:T:C Identity +NM_001031714.4:c.1391C>G NP_001026884.3:p.Pro464Arg NC_000014.9:104707657:C:G p.(Pro464Arg) NC_000014.9:104707657:C:G p.(Pro464Arg) NC_000014.9:104707657:C:G Identity +NM_000419.5:c.3088C>T NP_000410.2:p.Pro1030Ser NC_000017.11:44372395:G:A p.(Pro1030Ser) NC_000017.11:44372395:G:A p.(Pro1030Ser) NC_000017.11:44372395:G:A Identity +NM_001370136.1:c.1778T>C NP_001357065.1:p.Ile593Thr NC_000010.11:74976114:T:C p.(Ile593Thr) NC_000010.11:74976114:T:C p.(Ile593Thr) NC_000010.11:74976114:T:C Identity +NM_022168.4:c.2047A>C NP_071451.2:p.Asn683His NC_000002.12:162276943:T:G p.(Asn683His) NC_000002.12:162276943:T:G p.(Asn683His) NC_000002.12:162276943:T:G Identity +NM_004523.4:c.1879G>A NP_004514.2:p.Val627Ile NC_000010.11:92637186:G:A p.(Val627Ile) NC_000010.11:92637186:G:A p.(Val627Ile) NC_000010.11:92637186:G:A Identity +NM_001244008.2:c.739G>A NP_001230937.1:p.Val247Met NC_000002.12:240783797:C:T p.(Val247Met) NC_000002.12:240783797:C:T p.(Val247Met) NC_000002.12:240783797:C:T Identity +NM_003482.4:c.13730C>T NP_003473.3:p.Ala4577Val NC_000012.12:49030709:G:A p.(Ala4577Val) NC_000012.12:49030709:G:A p.(Ala4577Val) NC_000012.12:49030709:G:A Identity +NM_001172435.2:c.2121T>G NP_001165906.1:p.Tyr707Ter NC_000002.12:135153707:T:G p.(Tyr707Ter) NC_000002.12:135153707:T:G p.(Tyr707Ter) NC_000002.12:135153707:T:G Identity +NM_022168.4:c.2296A>C NP_071451.2:p.Met766Leu NC_000002.12:162276694:T:G p.(Met766Leu) NC_000002.12:162276694:T:G p.(Met766Leu) NC_000002.12:162276694:T:G Identity +NM_001145256.2:c.544CAT[1] NP_001138728.1:p.His183del NC_000012.12:43778274:ATCATCAT:ATCAT p.(His183del) NC_000012.12:43778276:C:CAT ERR:Parse ERR:Parse Identity +NM_001101362.2:c.176_177delGCinsAG NP_001094832.1:p.Arg59Gln NC_000015.10:65076990:GC:AG ERR:Data provider error: ValueError: Transcript NM_001101362.2 not found ERR:Data provider error: ValueError: Transcript NM_001101362.2 not found ERR:AlignmentMapper(tx_ac=NM_001101362.2, alt_ac=NM_001101362.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001101362.2, alt_ac=NM_001101362.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001101362.2 not found +NM_001329595.1:c.1014A>C NP_001316524.1:p.Lys338Asn NC_000017.11:41845454:A:C p.(Lys338Asn) NC_000017.11:41845454:A:C p.(Lys338Asn) NC_000017.11:41845454:A:C Identity +NM_001410908.1:c.991C>T NP_001397837.1:p.Pro331Ser NC_000007.14:105077184:C:T p.(Pro331Ser) NC_000007.14:105077184:C:T p.(Pro331Ser) NC_000007.14:105077184:C:T Identity +NM_001080114.2:c.527C>T NP_001073583.1:p.Ala176Val NC_000010.11:86687250:C:T p.(Ala176Val) NC_000010.11:86687250:C:T p.(Ala176Val) NC_000010.11:86687250:C:T Identity +NM_001280557.2:c.394G>C NP_001267486.1:p.Gly132Arg NC_000008.11:144412593:C:G p.(Gly132Arg) NC_000008.11:144412593:C:G p.(Gly132Arg) NC_000008.11:144412593:C:G Identity +NM_001080424.2:c.1019G>A NP_001073893.1:p.Arg340His NC_000017.11:7847213:G:A p.(Arg340His) NC_000017.11:7847213:G:A p.(Arg340His) NC_000017.11:7847213:G:A Identity +NM_014875.3:c.1127A>G NP_055690.1:p.Lys376Arg NC_000001.11:200615594:T:C p.(Lys376Arg) NC_000001.11:200615594:T:C p.(Lys376Arg) NC_000001.11:200615594:T:C Identity +NM_198525.3:c.641C>A NP_940927.2:p.Ser214Tyr NC_000015.10:89649255:G:T p.(Ser214Tyr) NC_000015.10:89649255:G:T p.(Ser214Tyr) NC_000015.10:89649255:G:T Identity +NM_002250.3:c.787G>A NP_002241.1:p.Gly263Ser NC_000019.10:43772031:C:T p.(Gly263Ser) NC_000019.10:43772031:C:T p.(Gly263Ser) NC_000019.10:43772031:C:T Identity +NM_001160130.2:c.2258G>A NP_001153602.1:p.Arg753Lys NC_000006.12:73194899:G:A p.(Arg753Lys) NC_000006.12:73194899:G:A p.(Arg753Lys) NC_000006.12:73194899:G:A Identity +NM_012310.5:c.1891C>T NP_036442.3:p.Arg631Cys NC_000023.11:70375315:C:T p.(Arg631Cys) NC_000023.11:70375315:C:T p.(Arg631Cys) NC_000023.11:70375315:C:T Identity +NM_003482.4:c.15731A>G NP_003473.3:p.Lys5244Arg NC_000012.12:49026234:T:C p.(Lys5244Arg) NC_000012.12:49026234:T:C p.(Lys5244Arg) NC_000012.12:49026234:T:C Identity +NM_000342.4:c.1893dup NP_000333.1:p.Leu632fs NC_000017.11:44254659:TTT:TTTT p.(Leu632ThrfsTer5) NC_000017.11:44254659:TTT:TTTT p.(Leu632ThrfsTer5) ERR:SPDI Analogous +NM_000081.4:c.1746A>G NP_000072.2:p.Ile582Met NC_000001.11:235809071:T:C p.(Ile582Met) NC_000001.11:235809071:T:C p.(Ile582Met) NC_000001.11:235809071:T:C Identity +NM_000081.4:c.9939_9940insTTAG NP_000072.2:p.Val3314fs NC_000001.11:235709294::CTAA p.(Val3314LeufsTer7) NC_000001.11:235709293:C:CTAA p.(Val3314LeufsTer7) NC_000001.11:235709294:CA:CTAA Analogous +NM_001039958.2:c.220G>A NP_001035047.1:p.Ala74Thr NC_000015.10:89776576:G:A p.(Ala74Thr) NC_000015.10:89776576:G:A p.(Ala74Thr) NC_000015.10:89776576:G:A Identity +NM_000426.4:c.7636G>A NP_000417.3:p.Val2546Ile NC_000006.12:129481325:G:A p.(Val2546Ile) NC_000006.12:129481325:G:A p.(Val2546Ile) NC_000006.12:129481325:G:A Identity +NM_000426.4:c.7534C>T NP_000417.3:p.Pro2512Ser NC_000006.12:129478774:C:T p.(Pro2512Ser) NC_000006.12:129478774:C:T p.(Pro2512Ser) NC_000006.12:129478774:C:T Identity +NM_000426.4:c.4841A>G NP_000417.3:p.Asn1614Ser NC_000006.12:129366341:A:G p.(Asn1614Ser) NC_000006.12:129366341:A:G p.(Asn1614Ser) NC_000006.12:129366341:A:G Identity +NM_001136037.4:c.650T>C NP_001129509.2:p.Val217Ala NC_000002.12:127642124:A:G p.(Val217Ala) NC_000002.12:127642124:A:G p.(Val217Ala) NC_000002.12:127642124:A:G Identity +NM_001100112.2:c.3169G>A NP_001093582.1:p.Ala1057Thr NC_000017.11:10529429:C:T p.(Ala1057Thr) NC_000017.11:10529429:C:T p.(Ala1057Thr) NC_000017.11:10529429:C:T Identity +NM_006610.4:c.1719G>C NP_006601.2:p.Trp573Cys NC_000001.11:11027226:C:G p.(Trp573Cys) NC_000001.11:11027226:C:G p.(Trp573Cys) NC_000001.11:11027226:C:G Identity +NM_001172574.2:c.355A>G NP_001166045.2:p.Lys119Glu NC_000008.11:6436080:A:G p.(Lys119Glu) NC_000008.11:6436080:A:G p.(Lys119Glu) NC_000008.11:6436080:A:G Identity +NM_005573.4:c.164C>G NP_005564.1:p.Thr55Arg NC_000005.10:126777671:C:G p.(Thr55Arg) NC_000005.10:126777671:C:G p.(Thr55Arg) NC_000005.10:126777671:C:G Identity +NM_001375808.2:c.595T>C NP_001362737.1:p.Ser199Pro NC_000018.10:2940707:A:G p.(Ser199Pro) NC_000018.10:2940707:A:G p.(Ser199Pro) NC_000018.10:2940707:A:G Identity +NM_000342.4:c.782_789dup NP_000333.1:p.Phe264fs NC_000017.11:44259249:GCGTATAGGC:GCGTATAGGCGTATAGGC p.(Phe264LeufsTer36) NC_000017.11:44259249:GCGTATAGGC:GCGTATAGGCGTATAGGC p.(Phe264LeufsTer36) ERR:SPDI Analogous +NM_000342.4:c.1987ATG[1] NP_000333.1:p.Met664del NC_000017.11:44254560:CATCATC:CATC p.(Met664del) NC_000017.11:44254565:T:CAT ERR:Parse ERR:Parse Identity +NM_005120.3:c.6238C>T NP_005111.2:p.Arg2080Trp NC_000023.11:71140827:C:T p.(Arg2080Trp) NC_000023.11:71140827:C:T p.(Arg2080Trp) NC_000023.11:71140827:C:T Identity +NM_001270521.2:c.3724G>A NP_001257450.1:p.Glu1242Lys NC_000006.12:131590404:C:T p.(Glu1242Lys) NC_000006.12:131590404:C:T p.(Glu1242Lys) NC_000006.12:131590404:C:T Identity +NM_001164507.2:c.12128G>C NP_001157979.2:p.Ser4043Thr NC_000002.12:151610010:C:G p.(Ser4043Thr) NC_000002.12:151610010:C:G p.(Ser4043Thr) NC_000002.12:151610010:C:G Identity +NM_001024858.4:c.2144_2145del NP_001020029.1:p.Glu715fs NC_000014.9:64793517:CTC:C p.(Glu715GlyfsTer28) NC_000014.9:64793517:CTC:C p.(Glu715GlyfsTer28) NC_000014.9:64793517:CT: Analogous +NM_001024858.4:c.2093del NP_001020029.1:p.Gln698fs NC_000014.9:64793569:T: p.(Gln698ArgfsTer21) NC_000014.9:64793569:T: p.(Gln698ArgfsTer21) NC_000014.9:64793569:T: Analogous +NM_001127392.3:c.2155G>T NP_001120864.1:p.Gly719Cys NC_000011.10:61779403:G:T p.(Gly719Cys) NC_000011.10:61779403:G:T p.(Gly719Cys) NC_000011.10:61779403:G:T Identity +NM_052876.4:c.1414C>T NP_443108.1:p.Arg472Cys NC_000019.10:13138235:C:T p.(Arg472Cys) NC_000019.10:13138235:C:T p.(Arg472Cys) NC_000019.10:13138235:C:T Identity +NM_005515.4:c.145G>A NP_005506.3:p.Gly49Arg NC_000007.14:157010205:C:T p.(Gly49Arg) NC_000007.14:157010205:C:T p.(Gly49Arg) NC_000007.14:157010205:C:T Identity +NM_001386500.1:c.1559T>C NP_001373429.1:p.Val520Ala NC_000001.11:11240529:A:G p.(Val520Ala) NC_000001.11:11240529:A:G p.(Val520Ala) NC_000001.11:11240529:A:G Identity +NM_001100112.2:c.3011C>A NP_001093582.1:p.Ala1004Asp NC_000017.11:10529669:G:T p.(Ala1004Asp) NC_000017.11:10529669:G:T p.(Ala1004Asp) NC_000017.11:10529669:G:T Identity +NM_001256182.2:c.4306_4307del NP_001243111.1:p.Glu1436fs NC_000016.10:89282234:TCTCTCTC:TCTCTC p.(Glu1436ThrfsTer15) NC_000016.10:89282234:TCTCTCTC:TCTCTC p.(Glu1436ThrfsTer15) NC_000016.10:89282234:TC: Analogous +NM_004543.5:c.311A>C NP_004534.3:p.Lys104Thr NC_000002.12:151725543:T:G p.(Lys104Thr) NC_000002.12:151725543:T:G p.(Lys104Thr) NC_000002.12:151725543:T:G Identity +NM_015384.5:c.5182A>G NP_056199.2:p.Arg1728Gly NC_000005.10:37020629:A:G p.(Arg1728Gly) NC_000005.10:37020629:A:G p.(Arg1728Gly) NC_000005.10:37020629:A:G Identity +NM_000276.4:c.461A>G NP_000267.2:p.Asn154Ser NC_000023.11:129558653:A:G p.(Asn154Ser) NC_000023.11:129558653:A:G p.(Asn154Ser) NC_000023.11:129558653:A:G Identity +NM_181672.3:c.2855C>T NP_858058.1:p.Ala952Val NC_000023.11:71568004:C:T p.(Ala952Val) NC_000023.11:71568004:C:T p.(Ala952Val) NC_000023.11:71568004:C:T Identity +NM_001164507.2:c.23916G>T NP_001157979.2:p.Glu7972Asp NC_000002.12:151502804:C:A p.(Glu7972Asp) NC_000002.12:151502804:C:A p.(Glu7972Asp) NC_000002.12:151502804:C:A Identity +NM_001164507.2:c.24292A>G NP_001157979.2:p.Ile8098Val NC_000002.12:151497633:T:C p.(Ile8098Val) NC_000002.12:151497633:T:C p.(Ile8098Val) NC_000002.12:151497633:T:C Identity +NM_001164507.2:c.22990A>C NP_001157979.2:p.Lys7664Gln NC_000002.12:151514843:T:G p.(Lys7664Gln) NC_000002.12:151514843:T:G p.(Lys7664Gln) NC_000002.12:151514843:T:G Identity +NM_001142864.4:c.1336C>A NP_001136336.2:p.Leu446Met NC_000016.10:88736368:G:T p.(Leu446Met) NC_000016.10:88736368:G:T p.(Leu446Met) NC_000016.10:88736368:G:T Identity +NM_001164507.2:c.20998A>T NP_001157979.2:p.Ile7000Leu NC_000002.12:151537975:T:A p.(Ile7000Leu) NC_000002.12:151537975:T:A p.(Ile7000Leu) NC_000002.12:151537975:T:A Identity +NM_001293557.2:c.695T>G NP_001280486.1:p.Val232Gly NC_000016.10:50710686:T:G p.(Val232Gly) NC_000016.10:50710686:T:G p.(Val232Gly) NC_000016.10:50710686:T:G Identity +NM_001039590.3:c.2314_2318del NP_001034679.2:p.Asp772fs NC_000023.11:41166194:GATTAGATTA:GATTA p.(Asp772ProfsTer9) NC_000023.11:41166194:GATTAGATTA:GATTA p.(Asp772ProfsTer9) NC_000023.11:41166199:GATTA: Analogous +NM_001288781.1:c.795del NP_001275710.1:p.Lys265fs NC_000014.9:88857223:AAA:AA p.(Lys265AsnfsTer4) NC_000014.9:88857223:AAA:AA p.(Lys265AsnfsTer4) NC_000014.9:88857225:A: Analogous +NM_001190737.2:c.955C>G NP_001177666.1:p.Pro319Ala NC_000009.12:14125736:G:C p.(Pro319Ala) NC_000009.12:14125736:G:C p.(Pro319Ala) NC_000009.12:14125736:G:C Identity +NM_000276.4:c.1933A>G NP_000267.2:p.Ile645Val NC_000023.11:129576369:A:G p.(Ile645Val) NC_000023.11:129576369:A:G p.(Ile645Val) NC_000023.11:129576369:A:G Identity +NM_001142864.4:c.4631G>A NP_001136336.2:p.Arg1544Gln NC_000016.10:88722873:C:T p.(Arg1544Gln) NC_000016.10:88722873:C:T p.(Arg1544Gln) NC_000016.10:88722873:C:T Identity +NM_000445.5:c.6197C>T NP_000436.2:p.Ala2066Val NC_000008.11:143923812:G:A p.(Ala2066Val) NC_000008.11:143923812:G:A p.(Ala2066Val) NC_000008.11:143923812:G:A Identity +NM_001128620.2:c.969G>T NP_001122092.1:p.Lys323Asn NC_000011.10:77343847:C:A p.(Lys323Asn) NC_000011.10:77343847:C:A p.(Lys323Asn) NC_000011.10:77343847:C:A Identity +NM_001142864.4:c.4579C>T NP_001136336.2:p.Arg1527Cys NC_000016.10:88722925:G:A p.(Arg1527Cys) NC_000016.10:88722925:G:A p.(Arg1527Cys) NC_000016.10:88722925:G:A Identity +NM_001142864.4:c.844G>C NP_001136336.2:p.Ala282Pro NC_000016.10:88738230:C:G p.(Ala282Pro) NC_000016.10:88738230:C:G p.(Ala282Pro) NC_000016.10:88738230:C:G Identity +NM_001368062.3:c.1694A>G NP_001354991.2:p.Gln565Arg NC_000012.12:80256442:A:G p.(Gln565Arg) NC_000012.12:80256442:A:G p.(Gln565Arg) NC_000012.12:80256442:A:G Identity +NM_001142864.4:c.3001C>G NP_001136336.2:p.Leu1001Val NC_000016.10:88731900:G:C p.(Leu1001Val) NC_000016.10:88731900:G:C p.(Leu1001Val) NC_000016.10:88731900:G:C Identity +NM_001142864.4:c.7157G>A NP_001136336.2:p.Arg2386His NC_000016.10:88716091:C:T p.(Arg2386His) NC_000016.10:88716091:C:T p.(Arg2386His) NC_000016.10:88716091:C:T Identity +NM_000445.5:c.12323C>G NP_000436.2:p.Thr4108Ser NC_000008.11:143917578:G:C p.(Thr4108Ser) NC_000008.11:143917578:G:C p.(Thr4108Ser) NC_000008.11:143917578:G:C Identity +NM_000303.3:c.261T>G NP_000294.1:p.Ile87Met NC_000016.10:8806320:T:G p.(Ile87Met) NC_000016.10:8806320:T:G p.(Ile87Met) NC_000016.10:8806320:T:G Identity +NM_001032381.2:c.431G>A NP_001027553.1:p.Arg144His NC_000023.11:48902370:G:A p.(Arg144His) NC_000023.11:48902370:G:A p.(Arg144His) NC_000023.11:48902370:G:A Identity +NM_181871.4:c.167G>A NP_870986.1:p.Ser56Asn NC_000001.11:155300120:C:T p.(Ser56Asn) NC_000001.11:155300120:C:T p.(Ser56Asn) NC_000001.11:155300120:C:T Identity +NM_001142864.4:c.4952A>C NP_001136336.2:p.Asp1651Ala NC_000016.10:88722220:T:G p.(Asp1651Ala) NC_000016.10:88722220:T:G p.(Asp1651Ala) NC_000016.10:88722220:T:G Identity +NM_002943.4:c.688G>A NP_002934.1:p.Asp230Asn NC_000015.10:60511432:C:T p.(Asp230Asn) NC_000015.10:60511432:C:T p.(Asp230Asn) NC_000015.10:60511432:C:T Identity +NM_000445.5:c.1922C>G NP_000436.2:p.Ser641Cys NC_000008.11:143932535:G:C p.(Ser641Cys) NC_000008.11:143932535:G:C p.(Ser641Cys) NC_000008.11:143932535:G:C Identity +NM_000445.5:c.811C>T NP_000436.2:p.Pro271Ser NC_000008.11:143935105:G:A p.(Pro271Ser) NC_000008.11:143935105:G:A p.(Pro271Ser) NC_000008.11:143935105:G:A Identity +NM_020376.4:c.1454C>T NP_065109.1:p.Ala485Val NC_000011.10:824800:C:T p.(Ala485Val) NC_000011.10:824800:C:T p.(Ala485Val) NC_000011.10:824800:C:T Identity +NM_001194937.2:c.1341C>A NP_001181866.1:p.Asn447Lys NC_000001.11:151424103:G:T p.(Asn447Lys) NC_000001.11:151424103:G:T p.(Asn447Lys) NC_000001.11:151424103:G:T Identity +NM_006231.4:c.6578C>G NP_006222.2:p.Pro2193Arg NC_000012.12:132625723:G:C p.(Pro2193Arg) NC_000012.12:132625723:G:C p.(Pro2193Arg) NC_000012.12:132625723:G:C Identity +NM_001277971.2:c.667A>G NP_001264900.1:p.Ile223Val NC_000008.11:43122490:A:G p.(Ile223Val) NC_000008.11:43122490:A:G p.(Ile223Val) NC_000008.11:43122490:A:G Identity +NM_001077365.2:c.1678T>C NP_001070833.1:p.Trp560Arg NC_000009.12:131520172:T:C p.(Trp560Arg) NC_000009.12:131520172:T:C p.(Trp560Arg) NC_000009.12:131520172:T:C Identity +NM_000540.3:c.8191G>A NP_000531.2:p.Ala2731Thr NC_000019.10:38504870:G:A p.(Ala2731Thr) NC_000019.10:38504870:G:A p.(Ala2731Thr) NC_000019.10:38504870:G:A Identity +NM_000445.5:c.1913G>T NP_000436.2:p.Arg638Leu NC_000008.11:143932544:C:A p.(Arg638Leu) NC_000008.11:143932544:C:A p.(Arg638Leu) NC_000008.11:143932544:C:A Identity +NM_013382.7:c.652G>T NP_037514.2:p.Asp218Tyr NC_000014.9:77302838:C:A p.(Asp218Tyr) NC_000014.9:77302838:C:A p.(Asp218Tyr) NC_000014.9:77302838:C:A Identity +NM_001042681.2:c.4412C>T NP_001036146.1:p.Pro1471Leu NC_000001.11:8356173:G:A p.(Pro1471Leu) NC_000001.11:8356173:G:A p.(Pro1471Leu) NC_000001.11:8356173:G:A Identity +NM_001191060.2:c.200G>T NP_001177989.1:p.Arg67Leu NC_000011.10:794459:C:A p.(Arg67Leu) NC_000011.10:794459:C:A p.(Arg67Leu) NC_000011.10:794459:C:A Identity +NM_000540.3:c.5389C>T NP_000531.2:p.Arg1797Cys NC_000019.10:38486043:C:T p.(Arg1797Cys) NC_000019.10:38486043:C:T p.(Arg1797Cys) NC_000019.10:38486043:C:T Identity +NM_001040142.2:c.1094C>T NP_001035232.1:p.Thr365Met NC_000002.12:165313678:C:T p.(Thr365Met) NC_000002.12:165313678:C:T p.(Thr365Met) NC_000002.12:165313678:C:T Identity +NM_002887.4:c.847G>A NP_002878.2:p.Glu283Lys NC_000005.10:168500614:G:A p.(Glu283Lys) NC_000005.10:168500614:G:A p.(Glu283Lys) NC_000005.10:168500614:G:A Identity +NM_173630.4:c.223C>A NP_775901.3:p.Pro75Thr NC_000018.10:70204259:G:T p.(Pro75Thr) NC_000018.10:70204259:G:T p.(Pro75Thr) NC_000018.10:70204259:G:T Identity +NM_000060.4:c.1090dup NP_000051.1:p.Ile364Asnfs NC_000003.12:15644941:AAAAA:AAAAAA ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_015295.3:c.3349T>G NP_056110.2:p.Ser1117Ala NC_000018.10:2738468:T:G p.(Ser1117Ala) NC_000018.10:2738468:T:G p.(Ser1117Ala) NC_000018.10:2738468:T:G Identity +NM_001291411.2:c.196G>A NP_001278340.2:p.Glu66Lys NC_000021.9:33546330:G:A p.(Glu66Lys) NC_000021.9:33546330:G:A p.(Glu66Lys) NC_000021.9:33546330:G:A Identity +NM_000086.2:c.354_355insG NP_000077.1:p.Leu119fs NC_000016.10:28487681::C p.(Leu119AlafsTer41) NC_000016.10:28487680:G:C p.(Leu119AlafsTer41) NC_000016.10:28487681:GG:C Analogous +NM_001177984.3:c.3151G>C NP_001171455.1:p.Ala1051Pro NC_000012.12:51769113:G:C p.(Ala1051Pro) NC_000012.12:51769113:G:C p.(Ala1051Pro) NC_000012.12:51769113:G:C Identity +NM_001172745.3:c.1791C>G NP_001166216.1:p.Asn597Lys NC_000020.11:18548655:C:G p.(Asn597Lys) NC_000020.11:18548655:C:G p.(Asn597Lys) NC_000020.11:18548655:C:G Identity +NM_001379141.1:c.1556C>T NP_001366070.1:p.Pro519Leu NC_000018.10:44950895:C:T p.(Pro519Leu) NC_000018.10:44950895:C:T p.(Pro519Leu) NC_000018.10:44950895:C:T Identity +NM_014712.3:c.1543G>A NP_055527.1:p.Glu515Lys NC_000016.10:30965284:G:A p.(Glu515Lys) NC_000016.10:30965284:G:A p.(Glu515Lys) NC_000016.10:30965284:G:A Identity +NM_001195728.3:c.429G>C NP_001182657.1:p.Gln143His NC_000011.10:35312302:C:G p.(Gln143His) NC_000011.10:35312302:C:G p.(Gln143His) NC_000011.10:35312302:C:G Identity +NM_013386.5:c.1A>C NP_037518.3:p.Met1Leu NC_000001.11:108200137:T:G p.(Met1Leu) NC_000001.11:108200137:T:G p.Met1? NC_000001.11:108200137:T:G Identity +NM_001165963.4:c.3154GAT[1] NP_001159435.1:p.Asp1053del NC_000002.12:166036317:ATCATCA:ATCA p.(Asp1053del) NC_000002.12:166036322:C:ATC ERR:Parse ERR:Parse Identity +NM_000062.3:c.1465C>G NP_000053.2:p.Pro489Ala NC_000011.10:57614542:C:G p.(Pro489Ala) NC_000011.10:57614542:C:G p.(Pro489Ala) NC_000011.10:57614542:C:G Identity +NM_001349370.3:c.5958A>T NP_001336299.1:p.Gln1986His NC_000003.12:47067088:T:A p.(Gln1986His) NC_000003.12:47067088:T:A p.(Gln1986His) NC_000003.12:47067088:T:A Identity +NM_003038.5:c.172_193del NP_003029.2:p.Leu58fs NC_000002.12:64989806:GCGCGGGCCTGGGCGCGGCGTTGCGCGGGC:GCGCGGGC p.(Leu58SerfsTer3) NC_000002.12:64989806:GCGCGGGCCTGGGCGCGGCGTTGCGCGGGC:GCGCGGGC p.(Leu58SerfsTer3) NC_000002.12:64989814:CTGGGCGCGGCGTTGCGCGGGC: Analogous +NM_001024858.4:c.2407_2408delinsTG NP_001020029.1:p.Glu803Trp NC_000014.9:64793254:TC:CA p.(Glu803Trp) NC_000014.9:64793254:TC:CA p.(Glu803Trp) NC_000014.9:64793254:TC:CA Identity +NM_001024858.4:c.1522C>T NP_001020029.1:p.Arg508Cys NC_000014.9:64795458:G:A p.(Arg508Cys) NC_000014.9:64795458:G:A p.(Arg508Cys) NC_000014.9:64795458:G:A Identity +NM_000053.4:c.2152delinsTCC NP_000044.2:p.Ala718fs NC_000013.11:51958513:C:GGA p.(Ala718SerfsTer6) NC_000013.11:51958513:CC:CGGA p.(Ala718SerfsTer6) NC_000013.11:51958513:C:GGA Analogous +NM_175875.5:c.1069G>A NP_787071.3:p.Gly357Ser NC_000019.10:45766889:C:T p.(Gly357Ser) NC_000019.10:45766889:C:T p.(Gly357Ser) NC_000019.10:45766889:C:T Identity +NM_015295.3:c.1283G>T NP_056110.2:p.Arg428Leu NC_000018.10:2697981:G:T p.(Arg428Leu) NC_000018.10:2697981:G:T p.(Arg428Leu) NC_000018.10:2697981:G:T Identity +NM_052874.5:c.632T>C NP_443106.1:p.Leu211Pro NC_000016.10:30993389:A:G p.(Leu211Pro) NC_000016.10:30993389:A:G p.(Leu211Pro) NC_000016.10:30993389:A:G Identity +NM_033071.5:c.22121C>A NP_149062.2:p.Thr7374Lys NC_000006.12:152214917:G:T p.(Thr7374Lys) NC_000006.12:152214917:G:T p.(Thr7374Lys) NC_000006.12:152214917:G:T Identity +NM_000169.2:c.567delG NP_000160.1:p.Ala190Profs NC_000023.11:101400736:CC:C ERR:Data provider error: ValueError: Transcript NM_000169.2 not found ERR:Data provider error: ValueError: Transcript NM_000169.2 not found ERR:AlignmentMapper(tx_ac=NM_000169.2, alt_ac=NM_000169.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000169.2, alt_ac=NM_000169.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000169.2 not found +NM_033071.5:c.6379G>A NP_149062.2:p.Asp2127Asn NC_000006.12:152409581:C:T p.(Asp2127Asn) NC_000006.12:152409581:C:T p.(Asp2127Asn) NC_000006.12:152409581:C:T Identity +NM_033071.5:c.22490A>G NP_149062.2:p.Tyr7497Cys NC_000006.12:152208092:T:C p.(Tyr7497Cys) NC_000006.12:152208092:T:C p.(Tyr7497Cys) NC_000006.12:152208092:T:C Identity +NM_003126.4:c.370T>A NP_003117.2:p.Ser124Thr NC_000001.11:158683390:A:T p.(Ser124Thr) NC_000001.11:158683390:A:T p.(Ser124Thr) NC_000001.11:158683390:A:T Identity +NM_001130438.3:c.6418G>A NP_001123910.1:p.Ala2140Thr NC_000009.12:128626528:G:A p.(Ala2140Thr) NC_000009.12:128626528:G:A p.(Ala2140Thr) NC_000009.12:128626528:G:A Identity +NM_015295.3:c.94G>A NP_056110.2:p.Asp32Asn NC_000018.10:2656168:G:A p.(Asp32Asn) NC_000018.10:2656168:G:A p.(Asp32Asn) NC_000018.10:2656168:G:A Identity +NM_003124.5:c.616C>T NP_003115.1:p.Gln206Ter NC_000002.12:72891366:C:T p.(Gln206Ter) NC_000002.12:72891366:C:T p.(Gln206Ter) NC_000002.12:72891366:C:T Identity +NM_033071.5:c.3968A>T NP_149062.2:p.Lys1323Met NC_000006.12:152442135:T:A p.(Lys1323Met) NC_000006.12:152442135:T:A p.(Lys1323Met) NC_000006.12:152442135:T:A Identity +NM_006662.3:c.8921C>T NP_006653.2:p.Pro2974Leu NC_000016.10:30738960:C:T p.(Pro2974Leu) NC_000016.10:30738960:C:T p.(Pro2974Leu) NC_000016.10:30738960:C:T Identity +NM_005862.3:c.3401A>C NP_005853.2:p.Gln1134Pro NC_000003.12:136343876:T:G p.(Gln1134Pro) NC_000003.12:136343876:T:G p.(Gln1134Pro) NC_000003.12:136343876:T:G Identity +NM_001378418.1:c.3398G>A NP_001365347.1:p.Arg1133Gln NC_000022.11:42211907:C:T p.(Arg1133Gln) NC_000022.11:42211907:C:T p.(Arg1133Gln) NC_000022.11:42211907:C:T Identity +NM_001170414.2:c.1250G>C NP_001163885.1:p.Ser417Thr NC_000009.12:69227872:G:C p.(Ser417Thr) NC_000009.12:69227872:G:C p.(Ser417Thr) NC_000009.12:69227872:G:C Identity +NM_001366574.1:c.1177G>T NP_001353503.1:p.Gly393Cys NC_000012.12:88176243:G:T p.(Gly393Cys) NC_000012.12:88176243:G:T p.(Gly393Cys) NC_000012.12:88176243:G:T Identity +NM_001191028.3:c.1249A>G NP_001177957.2:p.Met417Val NC_000007.14:128993823:T:C p.(Met417Val) NC_000007.14:128993823:T:C p.(Met417Val) NC_000007.14:128993823:T:C Identity +NM_033071.5:c.21460G>A NP_149062.2:p.Glu7154Lys NC_000006.12:152221029:C:T p.(Glu7154Lys) NC_000006.12:152221029:C:T p.(Glu7154Lys) NC_000006.12:152221029:C:T Identity +NM_015180.6:c.19877C>T NP_055995.4:p.Pro6626Leu NC_000014.9:64220521:C:T p.(Pro6626Leu) NC_000014.9:64220521:C:T p.(Pro6626Leu) NC_000014.9:64220521:C:T Identity +NM_001130066.2:c.314C>T NP_001123538.1:p.Ser105Leu NC_000006.12:33432178:C:T p.(Ser105Leu) NC_000006.12:33432178:C:T p.(Ser105Leu) NC_000006.12:33432178:C:T Identity +NM_033071.5:c.20294G>T NP_149062.2:p.Arg6765Leu NC_000006.12:152234689:C:A p.(Arg6765Leu) NC_000006.12:152234689:C:A p.(Arg6765Leu) NC_000006.12:152234689:C:A Identity +NM_033071.5:c.5551G>C NP_149062.2:p.Gly1851Arg NC_000006.12:152416906:C:G p.(Gly1851Arg) NC_000006.12:152416906:C:G p.(Gly1851Arg) NC_000006.12:152416906:C:G Identity +NM_015180.6:c.17592C>G NP_055995.4:p.Asn5864Lys NC_000014.9:64186458:C:G p.(Asn5864Lys) NC_000014.9:64186458:C:G p.(Asn5864Lys) NC_000014.9:64186458:C:G Identity +NM_015180.6:c.15307G>C NP_055995.4:p.Glu5103Gln NC_000014.9:64143771:G:C p.(Glu5103Gln) NC_000014.9:64143771:G:C p.(Glu5103Gln) NC_000014.9:64143771:G:C Identity +NM_021942.6:c.533C>T NP_068761.4:p.Thr178Ile NC_000004.12:183668089:C:T p.(Thr178Ile) NC_000004.12:183668089:C:T p.(Thr178Ile) NC_000004.12:183668089:C:T Identity +NM_021942.6:c.208A>G NP_068761.4:p.Thr70Ala NC_000004.12:183666259:A:G p.(Thr70Ala) NC_000004.12:183666259:A:G p.(Thr70Ala) NC_000004.12:183666259:A:G Identity +NM_007118.4:c.8909C>T NP_009049.2:p.Ser2970Phe NC_000005.10:14508036:C:T p.(Ser2970Phe) NC_000005.10:14508036:C:T p.(Ser2970Phe) NC_000005.10:14508036:C:T Identity +NM_001039141.3:c.4538C>T NP_001034230.1:p.Thr1513Met NC_000022.11:37734873:C:T p.(Thr1513Met) NC_000022.11:37734873:C:T p.(Thr1513Met) NC_000022.11:37734873:C:T Identity +NM_017752.3:c.163G>A NP_060222.2:p.Asp55Asn NC_000023.11:106818694:G:A p.(Asp55Asn) NC_000023.11:106818694:G:A p.(Asp55Asn) NC_000023.11:106818694:G:A Identity +NM_001191028.3:c.1105A>G NP_001177957.2:p.Ile369Val NC_000007.14:128997441:T:C p.(Ile369Val) NC_000007.14:128997441:T:C p.(Ile369Val) NC_000007.14:128997441:T:C Identity +NM_015180.6:c.3643G>A NP_055995.4:p.Glu1215Lys NC_000014.9:64001937:G:A p.(Glu1215Lys) NC_000014.9:64001937:G:A p.(Glu1215Lys) NC_000014.9:64001937:G:A Identity +NM_001193376.3:c.1283G>A NP_001180305.1:p.Arg428Gln NC_000005.10:1293602:C:T p.(Arg428Gln) NC_000005.10:1293602:C:T p.(Arg428Gln) NC_000005.10:1293602:C:T Identity +NM_001256850.1:c.94631G>A NP_001243779.1:p.Ser31544Asn NC_000002.12:178537652:C:T p.(Ser31544Asn) NC_000002.12:178537652:C:T p.(Ser31544Asn) NC_000002.12:178537652:C:T Identity +NM_001256850.1:c.67118C>T NP_001243779.1:p.Pro22373Leu NC_000002.12:178574090:G:A p.(Pro22373Leu) NC_000002.12:178574090:G:A p.(Pro22373Leu) NC_000002.12:178574090:G:A Identity +NM_001256850.1:c.57727T>C NP_001243779.1:p.Cys19243Arg NC_000002.12:178589074:A:G p.(Cys19243Arg) NC_000002.12:178589074:A:G p.(Cys19243Arg) NC_000002.12:178589074:A:G Identity +NM_001256850.1:c.31404C>A NP_001243779.1:p.His10468Gln NC_000002.12:178685554:G:T p.(His10468Gln) NC_000002.12:178685554:G:T p.(His10468Gln) NC_000002.12:178685554:G:T Identity +NM_001256850.1:c.71516G>A NP_001243779.1:p.Arg23839His NC_000002.12:178569692:C:T p.(Arg23839His) NC_000002.12:178569692:C:T p.(Arg23839His) NC_000002.12:178569692:C:T Identity +NM_001287801.2:c.1260C>A NP_001274730.1:p.Asn420Lys NC_000001.11:235437464:C:A p.(Asn420Lys) NC_000001.11:235437464:C:A p.(Asn420Lys) NC_000001.11:235437464:C:A Identity +NM_001378418.1:c.2518C>G NP_001365347.1:p.Pro840Ala NC_000022.11:42212787:G:C p.(Pro840Ala) NC_000022.11:42212787:G:C p.(Pro840Ala) NC_000022.11:42212787:G:C Identity +NM_003235.5:c.1273A>G NP_003226.4:p.Met425Val NC_000008.11:132886644:A:G p.(Met425Val) NC_000008.11:132886644:A:G p.(Met425Val) NC_000008.11:132886644:A:G Identity +NM_001191028.3:c.481A>G NP_001177957.2:p.Ile161Val NC_000007.14:129015049:T:C p.(Ile161Val) NC_000007.14:129015049:T:C p.(Ile161Val) NC_000007.14:129015049:T:C Identity +NM_001099679.2:c.265G>T NP_001093149.1:p.Ala89Ser NC_000009.12:116698006:G:T p.(Ala89Ser) NC_000009.12:116698006:G:T p.(Ala89Ser) NC_000009.12:116698006:G:T Identity +NM_007118.4:c.3028G>A NP_009049.2:p.Val1010Ile NC_000005.10:14368860:G:A p.(Val1010Ile) NC_000005.10:14368860:G:A p.(Val1010Ile) NC_000005.10:14368860:G:A Identity +NM_001244580.2:c.1133C>T NP_001231509.1:p.Thr378Met NC_000007.14:98908744:C:T p.(Thr378Met) NC_000007.14:98908744:C:T p.(Thr378Met) NC_000007.14:98908744:C:T Identity +NM_001191028.3:c.7G>A NP_001177957.2:p.Gly3Arg NC_000007.14:129054763:C:T p.(Gly3Arg) NC_000007.14:129054763:C:T p.(Gly3Arg) NC_000007.14:129054763:C:T Identity +NM_001191028.3:c.668_672del NP_001177957.2:p.Lys223fs NC_000007.14:129005039:TAATTTA:TA p.(Lys223ThrfsTer6) NC_000007.14:129005039:TAATTTA:TA p.(Lys223ThrfsTer6) NC_000007.14:129005039:TAATT: Analogous +NM_001256850.1:c.35918C>T NP_001243779.1:p.Ala11973Val NC_000002.12:178639733:G:A p.(Ala11973Val) NC_000002.12:178639733:G:A p.(Ala11973Val) NC_000002.12:178639733:G:A Identity +NM_001256850.1:c.20022C>G NP_001243779.1:p.Ser6674Arg NC_000002.12:178724401:G:C p.(Ser6674Arg) NC_000002.12:178724401:G:C p.(Ser6674Arg) NC_000002.12:178724401:G:C Identity +NM_001244580.2:c.1553C>A NP_001231509.1:p.Pro518His NC_000007.14:98910257:C:A p.(Pro518His) NC_000007.14:98910257:C:A p.(Pro518His) NC_000007.14:98910257:C:A Identity +NM_001256850.1:c.20459C>T NP_001243779.1:p.Pro6820Leu NC_000002.12:178723689:G:A p.(Pro6820Leu) NC_000002.12:178723689:G:A p.(Pro6820Leu) NC_000002.12:178723689:G:A Identity +NM_001256850.1:c.28903G>C NP_001243779.1:p.Asp9635His NC_000002.12:178704617:C:G p.(Asp9635His) NC_000002.12:178704617:C:G p.(Asp9635His) NC_000002.12:178704617:C:G Identity +NM_001256850.1:c.1870G>C NP_001243779.1:p.Asp624His NC_000002.12:178790045:C:G p.(Asp624His) NC_000002.12:178790045:C:G p.(Asp624His) NC_000002.12:178790045:C:G Identity +NM_001256850.1:c.6244G>A NP_001243779.1:p.Glu2082Lys NC_000002.12:178775619:C:T p.(Glu2082Lys) NC_000002.12:178775619:C:T p.(Glu2082Lys) NC_000002.12:178775619:C:T Identity +NM_001256850.1:c.99461A>G NP_001243779.1:p.Lys33154Arg NC_000002.12:178532230:T:C p.(Lys33154Arg) NC_000002.12:178532230:T:C p.(Lys33154Arg) NC_000002.12:178532230:T:C Identity +NM_001256850.1:c.42458T>A NP_001243779.1:p.Val14153Asp NC_000002.12:178617969:A:T p.(Val14153Asp) NC_000002.12:178617969:A:T p.(Val14153Asp) NC_000002.12:178617969:A:T Identity +NM_001256850.1:c.24682G>A NP_001243779.1:p.Val8228Ile NC_000002.12:178717100:C:T p.(Val8228Ile) NC_000002.12:178717100:C:T p.(Val8228Ile) NC_000002.12:178717100:C:T Identity +NM_001256850.1:c.18899G>A NP_001243779.1:p.Gly6300Asp NC_000002.12:178727727:C:T p.(Gly6300Asp) NC_000002.12:178727727:C:T p.(Gly6300Asp) NC_000002.12:178727727:C:T Identity +NM_001284214.2:c.329A>G NP_001271143.1:p.Asn110Ser NC_000002.12:229859469:T:C p.(Asn110Ser) NC_000002.12:229859469:T:C p.(Asn110Ser) NC_000002.12:229859469:T:C Identity +NM_001256850.1:c.27838A>G NP_001243779.1:p.Thr9280Ala NC_000002.12:178707777:T:C p.(Thr9280Ala) NC_000002.12:178707777:T:C p.(Thr9280Ala) NC_000002.12:178707777:T:C Identity +NM_001256850.1:c.25043A>G NP_001243779.1:p.Glu8348Gly NC_000002.12:178715191:T:C p.(Glu8348Gly) NC_000002.12:178715191:T:C p.(Glu8348Gly) NC_000002.12:178715191:T:C Identity +NM_001256850.1:c.15605C>T NP_001243779.1:p.Thr5202Met NC_000002.12:178732504:G:A p.(Thr5202Met) NC_000002.12:178732504:G:A p.(Thr5202Met) NC_000002.12:178732504:G:A Identity +NM_001256850.1:c.7945A>G NP_001243779.1:p.Lys2649Glu NC_000002.12:178771381:T:C p.(Lys2649Glu) NC_000002.12:178771381:T:C p.(Lys2649Glu) NC_000002.12:178771381:T:C Identity +NM_001256850.1:c.13212T>G NP_001243779.1:p.Cys4404Trp NC_000002.12:178738289:A:C p.(Cys4404Trp) NC_000002.12:178738289:A:C p.(Cys4404Trp) NC_000002.12:178738289:A:C Identity +NM_001256850.1:c.55331T>C NP_001243779.1:p.Ile18444Thr NC_000002.12:178591470:A:G p.(Ile18444Thr) NC_000002.12:178591470:A:G p.(Ile18444Thr) NC_000002.12:178591470:A:G Identity +NM_001256850.1:c.79013A>G NP_001243779.1:p.Gln26338Arg NC_000002.12:178562195:T:C p.(Gln26338Arg) NC_000002.12:178562195:T:C p.(Gln26338Arg) NC_000002.12:178562195:T:C Identity +NM_001256850.1:c.7226C>A NP_001243779.1:p.Ser2409Tyr NC_000002.12:178773941:G:T p.(Ser2409Tyr) NC_000002.12:178773941:G:T p.(Ser2409Tyr) NC_000002.12:178773941:G:T Identity +NM_001256850.1:c.52025C>T NP_001243779.1:p.Ala17342Val NC_000002.12:178598761:G:A p.(Ala17342Val) NC_000002.12:178598761:G:A p.(Ala17342Val) NC_000002.12:178598761:G:A Identity +NM_001256850.1:c.78946_78948del NP_001243779.1:p.Arg26316del NC_000002.12:178562260:CCT: p.(Arg26316del) NC_000002.12:178562260:CCT: p.(Arg26316del) NC_000002.12:178562260:CCT: Identity +NM_001256850.1:c.96320C>T NP_001243779.1:p.Thr32107Ile NC_000002.12:178535371:G:A p.(Thr32107Ile) NC_000002.12:178535371:G:A p.(Thr32107Ile) NC_000002.12:178535371:G:A Identity +NM_001256850.1:c.86957T>C NP_001243779.1:p.Ile28986Thr NC_000002.12:178549841:A:G p.(Ile28986Thr) NC_000002.12:178549841:A:G p.(Ile28986Thr) NC_000002.12:178549841:A:G Identity +NM_001256850.1:c.81730C>T NP_001243779.1:p.Arg27244Cys NC_000002.12:178559478:G:A p.(Arg27244Cys) NC_000002.12:178559478:G:A p.(Arg27244Cys) NC_000002.12:178559478:G:A Identity +LRG_391t1:c.47872T>C LRG_391p1:p.Phe15958Leu NC_000002.12:178617122:A:G ERR:Data provider error: ValueError: Transcript LRG_391t1 not found ERR:Data provider error: ValueError: Transcript LRG_391t1 not found ERR:AlignmentMapper(tx_ac=LRG_391t1, alt_ac=LRG_391t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_391t1, alt_ac=LRG_391t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_391t1 not found +NM_001256850.1:c.50924T>C NP_001243779.1:p.Val16975Ala NC_000002.12:178601056:A:G p.(Val16975Ala) NC_000002.12:178601056:A:G p.(Val16975Ala) NC_000002.12:178601056:A:G Identity +NM_001256850.1:c.73846A>G NP_001243779.1:p.Ile24616Val NC_000002.12:178567362:T:C p.(Ile24616Val) NC_000002.12:178567362:T:C p.(Ile24616Val) NC_000002.12:178567362:T:C Identity +NM_001256850.1:c.32573A>G NP_001243779.1:p.His10858Arg NC_000002.12:178679949:T:C p.(His10858Arg) NC_000002.12:178679949:T:C p.(His10858Arg) NC_000002.12:178679949:T:C Identity +NM_001256850.1:c.89171G>A NP_001243779.1:p.Arg29724His NC_000002.12:178547531:C:T p.(Arg29724His) NC_000002.12:178547531:C:T p.(Arg29724His) NC_000002.12:178547531:C:T Identity +NM_133378.4:c.16750A>G NP_596869.4:p.Ile5584Val NC_000002.12:178725839:T:C p.(Ile5584Val) NC_000002.12:178725839:T:C p.(Ile5584Val) NC_000002.12:178725839:T:C Identity +NM_001256850.1:c.21152A>C NP_001243779.1:p.Glu7051Ala NC_000002.12:178722795:T:G p.(Glu7051Ala) NC_000002.12:178722795:T:G p.(Glu7051Ala) NC_000002.12:178722795:T:G Identity +NM_001256850.1:c.75613G>A NP_001243779.1:p.Gly25205Arg NC_000002.12:178565595:C:T p.(Gly25205Arg) NC_000002.12:178565595:C:T p.(Gly25205Arg) NC_000002.12:178565595:C:T Identity +NM_001256850.1:c.36620G>A NP_001243779.1:p.Gly12207Glu NC_000002.12:178636027:C:T p.(Gly12207Glu) NC_000002.12:178636027:C:T p.(Gly12207Glu) NC_000002.12:178636027:C:T Identity +NM_001256850.1:c.99548A>G NP_001243779.1:p.His33183Arg NC_000002.12:178532143:T:C p.(His33183Arg) NC_000002.12:178532143:T:C p.(His33183Arg) NC_000002.12:178532143:T:C Identity +NM_001256850.1:c.43949C>T NP_001243779.1:p.Thr14650Ile NC_000002.12:178614641:G:A p.(Thr14650Ile) NC_000002.12:178614641:G:A p.(Thr14650Ile) NC_000002.12:178614641:G:A Identity +NM_001256850.1:c.66271G>C NP_001243779.1:p.Gly22091Arg NC_000002.12:178574937:C:G p.(Gly22091Arg) NC_000002.12:178574937:C:G p.(Gly22091Arg) NC_000002.12:178574937:C:G Identity +NM_001163812.2:c.562G>A NP_001157284.1:p.Asp188Asn NC_000010.11:100988771:G:A p.(Asp188Asn) NC_000010.11:100988771:G:A p.(Asp188Asn) NC_000010.11:100988771:G:A Identity +NM_001286457.2:c.3115G>A NP_001273386.2:p.Glu1039Lys NC_000016.10:8894588:C:T p.(Glu1039Lys) NC_000016.10:8894588:C:T p.(Glu1039Lys) NC_000016.10:8894588:C:T Identity +NM_032119.4:c.5485G>T NP_115495.3:p.Gly1829Trp NC_000005.10:90679589:G:T p.(Gly1829Trp) NC_000005.10:90679589:G:T p.(Gly1829Trp) NC_000005.10:90679589:G:T Identity +NM_001284214.2:c.5594del NP_001271143.1:p.Asn1865fs NC_000002.12:229774115:TT:T p.(Asn1865IlefsTer2) NC_000002.12:229774115:TT:T p.(Asn1865IlefsTer2) NC_000002.12:229774115:T: Analogous +NM_014991.6:c.3172C>G NP_055806.2:p.Leu1058Val NC_000004.12:84794974:G:C p.(Leu1058Val) NC_000004.12:84794974:G:C p.(Leu1058Val) NC_000004.12:84794974:G:C Identity +NM_000443.4:c.400C>A NP_000434.1:p.Gln134Lys NC_000007.14:87453079:G:T p.(Gln134Lys) NC_000007.14:87453079:G:T p.(Gln134Lys) NC_000007.14:87453079:G:T Identity +NM_001256850.1:c.73550G>C NP_001243779.1:p.Arg24517Thr NC_000002.12:178567658:C:G p.(Arg24517Thr) NC_000002.12:178567658:C:G p.(Arg24517Thr) NC_000002.12:178567658:C:G Identity +NM_001354927.2:c.587T>C NP_001341856.1:p.Ile196Thr NC_000009.12:35063066:A:G p.(Ile196Thr) NC_000009.12:35063066:A:G p.(Ile196Thr) NC_000009.12:35063066:A:G Identity +NM_000032.5:c.1276A>G NP_000023.2:p.Met426Val NC_000023.11:55014907:T:C p.(Met426Val) NC_000023.11:55014907:T:C p.(Met426Val) NC_000023.11:55014907:T:C Identity +NM_001410805.1:c.1060C>G NP_001397734.1:p.Arg354Gly NC_000003.12:128909042:C:G p.(Arg354Gly) NC_000003.12:128909042:C:G p.(Arg354Gly) NC_000003.12:128909042:C:G Identity +NM_000032.5:c.680G>A NP_000023.2:p.Arg227His NC_000023.11:55020462:C:T p.(Arg227His) NC_000023.11:55020462:C:T p.(Arg227His) NC_000023.11:55020462:C:T Identity +NM_001256617.2:c.55G>A NP_001243546.1:p.Val19Ile NC_000010.11:133302886:C:T p.(Val19Ile) NC_000010.11:133302886:C:T p.(Val19Ile) NC_000010.11:133302886:C:T Identity +NM_001354927.2:c.1298A>T NP_001341856.1:p.Asp433Val NC_000009.12:35060849:T:A p.(Asp433Val) NC_000009.12:35060849:T:A p.(Asp433Val) NC_000009.12:35060849:T:A Identity +NM_000380.4:c.733G>A NP_000371.1:p.Glu245Lys NC_000009.12:97675527:C:T p.(Glu245Lys) NC_000009.12:97675527:C:T p.(Glu245Lys) NC_000009.12:97675527:C:T Identity +NM_001411042.1:c.4193C>A NP_001397971.1:p.Pro1398His NC_000009.12:137014211:G:T p.(Pro1398His) NC_000009.12:137014211:G:T p.(Pro1398His) NC_000009.12:137014211:G:T Identity +NM_001127617.2:c.923C>T NP_001121089.1:p.Ala308Val NC_000016.10:30069952:C:T p.(Ala308Val) NC_000016.10:30069952:C:T p.(Ala308Val) NC_000016.10:30069952:C:T Identity +NM_001127617.2:c.848A>G NP_001121089.1:p.Asn283Ser NC_000016.10:30069877:A:G p.(Asn283Ser) NC_000016.10:30069877:A:G p.(Asn283Ser) NC_000016.10:30069877:A:G Identity +NM_001378454.1:c.4175A>G NP_001365383.1:p.Tyr1392Cys NC_000002.12:73450701:A:G p.(Tyr1392Cys) NC_000002.12:73450701:A:G p.(Tyr1392Cys) NC_000002.12:73450701:A:G Identity +NM_000037.4:c.935C>T NP_000028.3:p.Ala312Val NC_000008.11:41719832:G:A p.(Ala312Val) NC_000008.11:41719832:G:A p.(Ala312Val) NC_000008.11:41719832:G:A Identity +NM_001286075.2:c.1582T>C NP_001273004.1:p.Tyr528His NC_000016.10:28900772:T:C p.(Tyr528His) NC_000016.10:28900772:T:C p.(Tyr528His) NC_000016.10:28900772:T:C Identity +NM_001347997.2:c.3976C>T NP_001334926.1:p.Leu1326Phe NC_000009.12:106972147:C:T p.(Leu1326Phe) NC_000009.12:106972147:C:T p.(Leu1326Phe) NC_000009.12:106972147:C:T Identity +NM_000033.4:c.763dup NP_000024.2:p.Ala255fs NC_000023.11:153726027:GG:GGG p.(Ala255GlyfsTer46) NC_000023.11:153726027:GG:GGG p.(Ala255GlyfsTer46) ERR:SPDI Analogous +NM_001169122.2:c.1636G>A NP_001162593.1:p.Val546Ile NC_000023.11:148955779:G:A p.(Val546Ile) NC_000023.11:148955779:G:A p.(Val546Ile) NC_000023.11:148955779:G:A Identity +NM_001029882.3:c.4134G>T NP_001025053.1:p.Lys1378Asn NC_000001.11:27547981:C:A p.(Lys1378Asn) NC_000001.11:27547981:C:A p.(Lys1378Asn) NC_000001.11:27547981:C:A Identity +NM_001807.6:c.1875del NP_001798.3:p.Val626fs NC_000009.12:133071369:CCCCCCCC:CCCCCCC p.(Val626CysfsTer78) NC_000009.12:133071369:CCCCCCCC:CCCCCCC p.(Val626CysfsTer78) NC_000009.12:133071376:C: Analogous +NM_001142649.2:c.2531T>C NP_001136121.1:p.Leu844Ser NC_000011.10:22279556:T:C p.(Leu844Ser) NC_000011.10:22279556:T:C p.(Leu844Ser) NC_000011.10:22279556:T:C Identity +NM_001142649.2:c.473C>T NP_001136121.1:p.Pro158Leu NC_000011.10:22227413:C:T p.(Pro158Leu) NC_000011.10:22227413:C:T p.(Pro158Leu) NC_000011.10:22227413:C:T Identity +NM_000050.4:c.590A>G NP_000041.2:p.Asn197Ser NC_000009.12:130471507:A:G p.(Asn197Ser) NC_000009.12:130471507:A:G p.(Asn197Ser) NC_000009.12:130471507:A:G Identity +NM_001010986.3:c.2168T>G NP_001010986.2:p.Ile723Arg NC_000023.11:139774746:A:C p.(Ile723Arg) NC_000023.11:139774746:A:C p.(Ile723Arg) NC_000023.11:139774746:A:C Identity +NM_001127231.3:c.626G>A NP_001120703.1:p.Ser209Asn NC_000007.14:70134536:G:A p.(Ser209Asn) NC_000007.14:70134536:G:A p.(Ser209Asn) NC_000007.14:70134536:G:A Identity +NM_001384732.1:c.5220del NP_001371661.1:p.Phe1740fs NC_000005.10:37182960:AAAA:AAA p.(Phe1740LeufsTer4) NC_000005.10:37182960:AAAA:AAA p.(Phe1740LeufsTer4) NC_000005.10:37182960:A: Analogous +NM_001366177.2:c.7061A>G NP_001353106.1:p.Asn2354Ser NC_000001.11:155357324:T:C p.(Asn2354Ser) NC_000001.11:155357324:T:C p.(Asn2354Ser) NC_000001.11:155357324:T:C Identity +NM_001369346.1:c.1223C>T NP_001356275.1:p.Ser408Phe NC_000002.12:25750158:G:A p.(Ser408Phe) NC_000002.12:25750158:G:A p.(Ser408Phe) NC_000002.12:25750158:G:A Identity +NM_001007026.2:c.3454C>T NP_001007027.1:p.Arg1152Cys NC_000012.12:6941468:C:T p.(Arg1152Cys) NC_000012.12:6941468:C:T p.(Arg1152Cys) NC_000012.12:6941468:C:T Identity +NM_001029882.3:c.574C>T NP_001025053.1:p.Arg192Trp NC_000001.11:27551541:G:A p.(Arg192Trp) NC_000001.11:27551541:G:A p.(Arg192Trp) NC_000001.11:27551541:G:A Identity +NM_152424.4:c.3010T>C NP_689637.3:p.Ser1004Pro NC_000023.11:64190276:A:G p.(Ser1004Pro) NC_000023.11:64190276:A:G p.(Ser1004Pro) NC_000023.11:64190276:A:G Identity +NM_000036.3:c.2063T>C NP_000027.3:p.Leu688Ser NC_000001.11:114673660:A:G p.(Leu688Ser) NC_000001.11:114673660:A:G p.(Leu688Ser) NC_000001.11:114673660:A:G Identity +NM_000037.4:c.4427G>T NP_000028.3:p.Arg1476Leu NC_000008.11:41684653:C:A p.(Arg1476Leu) NC_000008.11:41684653:C:A p.(Arg1476Leu) NC_000008.11:41684653:C:A Identity +NM_001204403.2:c.551C>T NP_001191332.1:p.Ser184Leu NC_000010.11:60263964:G:A p.(Ser184Leu) NC_000010.11:60263964:G:A p.(Ser184Leu) NC_000010.11:60263964:G:A Identity +NM_001211.6:c.727A>G NP_001202.5:p.Ile243Val NC_000015.10:40183858:A:G p.(Ile243Val) NC_000015.10:40183858:A:G p.(Ile243Val) NC_000015.10:40183858:A:G Identity +NM_001199563.2:c.64G>C NP_001186492.1:p.Glu22Gln NC_000006.12:105133513:C:G p.(Glu22Gln) NC_000006.12:105133513:C:G p.(Glu22Gln) NC_000006.12:105133513:C:G Identity +NM_000070.3:c.238T>G NP_000061.1:p.Phe80Val NC_000015.10:42360042:T:G p.(Phe80Val) NC_000015.10:42360042:T:G p.(Phe80Val) NC_000015.10:42360042:T:G Identity +NM_000070.3:c.610C>G NP_000061.1:p.Leu204Val NC_000015.10:42387863:C:G p.(Leu204Val) NC_000015.10:42387863:C:G p.(Leu204Val) NC_000015.10:42387863:C:G Identity +NM_000070.3:c.1844T>A NP_000061.1:p.Leu615Gln NC_000015.10:42408253:T:A p.(Leu615Gln) NC_000015.10:42408253:T:A p.(Leu615Gln) NC_000015.10:42408253:T:A Identity +NM_000109.4:c.2579_2589del NP_000100.3:p.Ser860fs NC_000023.11:32491285:TTTTAACTGACTTTTAA:TTTTAA p.(Ser860AsnfsTer3) NC_000023.11:32491285:TTTTAACTGACTTTTAA:TTTTAA p.(Ser860AsnfsTer3) NC_000023.11:32491285:TTTTAACTGAC: Analogous +NM_001079866.2:c.1025T>C NP_001073335.1:p.Ile342Thr NC_000002.12:218663150:T:C p.(Ile342Thr) NC_000002.12:218663150:T:C p.(Ile342Thr) NC_000002.12:218663150:T:C Identity +NM_001320633.2:c.1030G>A NP_001307562.1:p.Gly344Arg NC_000002.12:127051215:C:T p.(Gly344Arg) NC_000002.12:127051215:C:T p.(Gly344Arg) NC_000002.12:127051215:C:T Identity +NM_000047.3:c.1265C>T NP_000038.2:p.Ala422Val NC_000023.11:2938118:G:A p.(Ala422Val) NC_000023.11:2938118:G:A p.(Ala422Val) NC_000023.11:2938118:G:A Identity +NM_001366177.2:c.5413C>G NP_001353106.1:p.Arg1805Gly NC_000001.11:155438741:G:C p.(Arg1805Gly) NC_000001.11:155438741:G:C p.(Arg1805Gly) NC_000001.11:155438741:G:C Identity +NM_001010986.3:c.3184C>G NP_001010986.2:p.Gln1062Glu NC_000023.11:139738028:G:C p.(Gln1062Glu) NC_000023.11:139738028:G:C p.(Gln1062Glu) NC_000023.11:139738028:G:C Identity +NM_138477.4:c.1138G>C NP_612486.2:p.Val380Leu NC_000015.10:42734344:C:G p.(Val380Leu) NC_000015.10:42734344:C:G p.(Val380Leu) NC_000015.10:42734344:C:G Identity +NM_014244.5:c.2316del NP_055059.2:p.Lys772fs NC_000005.10:179130072:C: p.(Lys772AsnfsTer4) NC_000005.10:179130072:C: p.(Lys772AsnfsTer4) NC_000005.10:179130072:C: Analogous +NM_001320893.1:c.1595_1599del NP_001307822.1:p.Val532fs NC_000002.12:25241588:CCCGAC:C p.(Val532GlyfsTer27) NC_000002.12:25241588:CCCGAC:C p.(Val532GlyfsTer27) NC_000002.12:25241588:CCCGA: Analogous +NM_001042475.3:c.1871_1874del NP_001035940.1:p.Asp624fs NC_000006.12:118479910:CTGTCT:CT p.(Asp624AlafsTer9) NC_000006.12:118479910:CTGTCT:CT p.(Asp624AlafsTer9) NC_000006.12:118479910:CTGT: Analogous +NM_001270.4:c.3941G>T NP_001261.2:p.Ser1314Ile NC_000005.10:98870723:C:A p.(Ser1314Ile) NC_000005.10:98870723:C:A p.(Ser1314Ile) NC_000005.10:98870723:C:A Identity +NM_001271.4:c.2345T>G NP_001262.3:p.Ile782Ser NC_000015.10:92971919:T:G p.(Ile782Ser) NC_000015.10:92971919:T:G p.(Ile782Ser) NC_000015.10:92971919:T:G Identity +NM_001273.5:c.5472G>C NP_001264.2:p.Glu1824Asp NC_000012.12:6573158:C:G p.(Glu1824Asp) NC_000012.12:6573158:C:G p.(Glu1824Asp) NC_000012.12:6573158:C:G Identity +NM_001273.5:c.4883_4884del NP_001264.2:p.Glu1628fs NC_000012.12:6581068:CTCT:CT p.(Glu1628GlyfsTer12) NC_000012.12:6581068:CTCT:CT p.(Glu1628GlyfsTer12) NC_000012.12:6581068:CT: Analogous +NM_001256944.2:c.1078G>A NP_001243873.1:p.Val360Ile NC_000023.11:10208560:G:A p.(Val360Ile) NC_000023.11:10208560:G:A p.(Val360Ile) NC_000023.11:10208560:G:A Identity +NM_001265612.2:c.3068C>A NP_001252541.1:p.Ala1023Glu NC_000016.10:58551706:G:T p.(Ala1023Glu) NC_000016.10:58551706:G:T p.(Ala1023Glu) NC_000016.10:58551706:G:T Identity +NM_001195139.2:c.1298A>G NP_001182068.2:p.Asn433Ser NC_000016.10:70497940:T:C p.(Asn433Ser) NC_000016.10:70497940:T:C p.(Asn433Ser) NC_000016.10:70497940:T:C Identity +NM_000109.4:c.2219_2220insCC NP_000100.3:p.Ile741fs NC_000023.11:32518056:G:GGG p.(Ile741GlnfsTer12) NC_000023.11:32518055:T:GG p.(Ile741GlnfsTer12) NC_000023.11:32518056:TG:GG Analogous +NM_138477.4:c.1819G>A NP_612486.2:p.Glu607Lys NC_000015.10:42731251:C:T p.(Glu607Lys) NC_000015.10:42731251:C:T p.(Glu607Lys) NC_000015.10:42731251:C:T Identity +NM_000489.6:c.6511A>G NP_000480.3:p.Met2171Val NC_000023.11:77557638:T:C p.(Met2171Val) NC_000023.11:77557638:T:C p.(Met2171Val) NC_000023.11:77557638:T:C Identity +NM_001848.3:c.968G>A NP_001839.2:p.Gly323Asp NC_000021.9:45990387:G:A p.(Gly323Asp) NC_000021.9:45990387:G:A p.(Gly323Asp) NC_000021.9:45990387:G:A Identity +NM_007255.3:c.188G>T NP_009186.1:p.Gly63Val NC_000005.10:177604315:G:T p.(Gly63Val) NC_000005.10:177604315:G:T p.(Gly63Val) NC_000005.10:177604315:G:T Identity +NM_000068.4:c.1357T>G NP_000059.3:p.Phe453Val NC_000019.10:13317312:A:C p.(Phe453Val) NC_000019.10:13317312:A:C p.(Phe453Val) NC_000019.10:13317312:A:C Identity +NM_005199.5:c.224A>G NP_005190.4:p.Asn75Ser NC_000002.12:232540408:A:G p.(Asn75Ser) NC_000002.12:232540408:A:G p.(Asn75Ser) NC_000002.12:232540408:A:G Identity +NM_001288653.2:c.118A>G NP_001275582.1:p.Ile40Val NC_000017.11:59644350:A:G p.(Ile40Val) NC_000017.11:59644350:A:G p.(Ile40Val) NC_000017.11:59644350:A:G Identity +NM_080679.3:c.3164G>A NP_542410.2:p.Gly1055Asp NC_000006.12:33170599:C:T p.(Gly1055Asp) NC_000006.12:33170599:C:T p.(Gly1055Asp) NC_000006.12:33170599:C:T Identity +NM_001849.4:c.1961C>A NP_001840.3:p.Ser654Tyr NC_000021.9:46125608:C:A p.(Ser654Tyr) NC_000021.9:46125608:C:A p.(Ser654Tyr) NC_000021.9:46125608:C:A Identity +NM_001304815.2:c.7095C>G NP_001291744.1:p.Asp2365Glu NC_000019.10:42294643:C:G p.(Asp2365Glu) NC_000019.10:42294643:C:G p.(Asp2365Glu) NC_000019.10:42294643:C:G Identity +NM_005677.4:c.1255G>A NP_005668.2:p.Gly419Ser NC_000003.12:15453871:C:T p.(Gly419Ser) NC_000003.12:15453871:C:T p.(Gly419Ser) NC_000003.12:15453871:C:T Identity +NM_000099.4:c.212G>A NP_000090.1:p.Arg71His NC_000020.11:23637650:C:T p.(Arg71His) NC_000020.11:23637650:C:T p.(Arg71His) NC_000020.11:23637650:C:T Identity +NM_001257197.2:c.619A>G NP_001244126.1:p.Met207Val NC_000002.12:224511419:T:C p.(Met207Val) NC_000002.12:224511419:T:C p.(Met207Val) NC_000002.12:224511419:T:C Identity +NM_001165928.4:c.1588A>G NP_001159400.3:p.Thr530Ala NC_000003.12:49532098:A:G p.(Thr530Ala) NC_000003.12:49532098:A:G p.(Thr530Ala) NC_000003.12:49532098:A:G Identity +NM_004370.6:c.5304C>A NP_004361.3:p.Ser1768Arg NC_000006.12:75137526:G:T p.(Ser1768Arg) NC_000006.12:75137526:G:T p.(Ser1768Arg) NC_000006.12:75137526:G:T Identity +NM_000090.4:c.245G>A NP_000081.2:p.Gly82Glu NC_000002.12:188984924:G:A p.(Gly82Glu) NC_000002.12:188984924:G:A p.(Gly82Glu) NC_000002.12:188984924:G:A Identity +NM_001848.3:c.1402G>C NP_001839.2:p.Glu468Gln NC_000021.9:45997423:G:C p.(Glu468Gln) NC_000021.9:45997423:G:C p.(Glu468Gln) NC_000021.9:45997423:G:C Identity +NM_004369.4:c.1555G>C NP_004360.2:p.Asp519His NC_000002.12:237381256:C:G p.(Asp519His) NC_000002.12:237381256:C:G p.(Asp519His) NC_000002.12:237381256:C:G Identity +NM_001170629.2:c.637C>T NP_001164100.1:p.Pro213Ser NC_000014.9:21431006:G:A p.(Pro213Ser) NC_000014.9:21431006:G:A p.(Pro213Ser) NC_000014.9:21431006:G:A Identity +NM_001079878.2:c.181G>A NP_001073347.1:p.Gly61Arg NC_000002.12:98377765:G:A p.(Gly61Arg) NC_000002.12:98377765:G:A p.(Gly61Arg) NC_000002.12:98377765:G:A Identity +NM_001130103.2:c.2108_2109insCT NP_001123575.1:p.Leu704fs NC_000010.11:69952964::CT p.(Leu704TyrfsTer30) NC_000010.11:69952963:C:CT p.(Leu704TyrfsTer30) NC_000010.11:69952964:CA:CT Analogous +NM_001848.3:c.2227G>A NP_001839.2:p.Val743Met NC_000021.9:46002377:G:A p.(Val743Met) NC_000021.9:46002377:G:A p.(Val743Met) NC_000021.9:46002377:G:A Identity +NM_000202.8:c.353C>T NP_000193.1:p.Thr118Ile NC_000023.11:149503376:G:A p.(Thr118Ile) NC_000023.11:149503376:G:A p.(Thr118Ile) NC_000023.11:149503376:G:A Identity +NM_004370.6:c.4637A>T NP_004361.3:p.Gln1546Leu NC_000006.12:75145378:T:A p.(Gln1546Leu) NC_000006.12:75145378:T:A p.(Gln1546Leu) NC_000006.12:75145378:T:A Identity +NM_004370.6:c.3130C>T NP_004361.3:p.Pro1044Ser NC_000006.12:75156376:G:A p.(Pro1044Ser) NC_000006.12:75156376:G:A p.(Pro1044Ser) NC_000006.12:75156376:G:A Identity +NM_004370.6:c.811G>T NP_004361.3:p.Val271Phe NC_000006.12:75189228:C:A p.(Val271Phe) NC_000006.12:75189228:C:A p.(Val271Phe) NC_000006.12:75189228:C:A Identity +NM_000088.4:c.2906A>G NP_000079.2:p.Glu969Gly NC_000017.11:50189198:T:C p.(Glu969Gly) NC_000017.11:50189198:T:C p.(Glu969Gly) NC_000017.11:50189198:T:C Identity +NM_000093.5:c.4864A>C NP_000084.3:p.Ile1622Leu NC_000009.12:134824764:A:C p.(Ile1622Leu) NC_000009.12:134824764:A:C p.(Ile1622Leu) NC_000009.12:134824764:A:C Identity +NM_004369.4:c.1834C>G NP_004360.2:p.Pro612Ala NC_000002.12:237380977:G:C p.(Pro612Ala) NC_000002.12:237380977:G:C p.(Pro612Ala) NC_000002.12:237380977:G:C Identity +NM_001079872.2:c.988G>C NP_001073341.1:p.Asp330His NC_000023.11:120544575:C:G p.(Asp330His) NC_000023.11:120544575:C:G p.(Asp330His) NC_000023.11:120544575:C:G Identity +NM_001393363.1:c.143A>T NP_001380292.1:p.Tyr48Phe NC_000003.12:33114219:A:T p.(Tyr48Phe) NC_000003.12:33114219:A:T p.(Tyr48Phe) NC_000003.12:33114219:A:T Identity +NM_001384732.1:c.1081C>T NP_001371661.1:p.Pro361Ser NC_000005.10:37230906:G:A p.(Pro361Ser) NC_000005.10:37230906:G:A p.(Pro361Ser) NC_000005.10:37230906:G:A Identity +NM_001079846.1:c.5717C>T NP_001073315.1:p.Ala1906Val NC_000016.10:3729215:G:A p.(Ala1906Val) NC_000016.10:3729215:G:A p.(Ala1906Val) NC_000016.10:3729215:G:A Identity +NM_001370598.1:c.2345A>G NP_001357527.1:p.Asp782Gly NC_000012.12:111320539:A:G p.(Asp782Gly) NC_000012.12:111320539:A:G p.(Asp782Gly) NC_000012.12:111320539:A:G Identity +NM_021957.4:c.1753C>T NP_068776.2:p.Gln585Ter NC_000012.12:21540465:G:A p.(Gln585Ter) NC_000012.12:21540465:G:A p.(Gln585Ter) NC_000012.12:21540465:G:A Identity +NM_001353980.2:c.122G>A NP_001340909.1:p.Arg41Gln NC_000001.11:57145374:C:T p.(Arg41Gln) NC_000001.11:57145374:C:T p.(Arg41Gln) NC_000001.11:57145374:C:T Identity +NM_005562.3:c.14G>A NP_005553.2:p.Trp5Ter NC_000001.11:183186365:G:A p.(Trp5Ter) NC_000001.11:183186365:G:A p.(Trp5Ter) NC_000001.11:183186365:G:A Identity +NM_001130455.2:c.4168G>A NP_001123927.1:p.Val1390Met NC_000002.12:71611623:G:A p.(Val1390Met) NC_000002.12:71611623:G:A p.(Val1390Met) NC_000002.12:71611623:G:A Identity +NM_000117.3:c.553T>C NP_000108.1:p.Ser185Pro NC_000023.11:154380984:T:C p.(Ser185Pro) NC_000023.11:154380984:T:C p.(Ser185Pro) NC_000023.11:154380984:T:C Identity +NM_001195610.2:c.215A>G NP_001182539.1:p.His72Arg NC_000006.12:24357535:T:C p.(His72Arg) NC_000006.12:24357535:T:C p.(His72Arg) NC_000006.12:24357535:T:C Identity +NM_000109.4:c.2264T>A NP_000100.3:p.Val755Asp NC_000023.11:32518011:A:T p.(Val755Asp) NC_000023.11:32518011:A:T p.(Val755Asp) NC_000023.11:32518011:A:T Identity +NM_001039885.3:c.958C>T NP_001034974.1:p.Arg320Cys NC_000019.10:46756407:C:T p.(Arg320Cys) NC_000019.10:46756407:C:T p.(Arg320Cys) NC_000019.10:46756407:C:T Identity +NM_006236.3:c.1354G>C NP_006227.1:p.Val452Leu NC_000002.12:104856863:G:C p.(Val452Leu) NC_000002.12:104856863:G:C p.(Val452Leu) NC_000002.12:104856863:G:C Identity +NM_001130455.2:c.5345G>T NP_001123927.1:p.Gly1782Val NC_000002.12:71668754:G:T p.(Gly1782Val) NC_000002.12:71668754:G:T p.(Gly1782Val) NC_000002.12:71668754:G:T Identity +NM_000142.5:c.754C>T NP_000133.1:p.Arg252Trp NC_000004.12:1801848:C:T p.(Arg252Trp) NC_000004.12:1801848:C:T p.(Arg252Trp) NC_000004.12:1801848:C:T Identity +NM_000604.2:c.2243A>G NP_000595.1:p.Lys748Arg NC_000008.11:38413966:T:C ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001281739.3:c.1385G>C NP_001268668.1:p.Arg462Pro NC_000018.10:36681509:G:C p.(Arg462Pro) NC_000018.10:36681509:G:C p.(Arg462Pro) NC_000018.10:36681509:G:C Identity +NM_001349608.2:c.4399G>C NP_001336537.1:p.Glu1467Gln NC_000001.11:7745962:G:C p.(Glu1467Gln) NC_000001.11:7745962:G:C p.(Glu1467Gln) NC_000001.11:7745962:G:C Identity +NM_001127392.3:c.2416G>A NP_001120864.1:p.Val806Met NC_000011.10:61780721:G:A p.(Val806Met) NC_000011.10:61780721:G:A p.(Val806Met) NC_000011.10:61780721:G:A Identity +NM_152672.6:c.437G>A NP_689885.4:p.Arg146Lys NC_000003.12:196228188:G:A p.(Arg146Lys) NC_000003.12:196228188:G:A p.(Arg146Lys) NC_000003.12:196228188:G:A Identity +NM_001378761.1:c.6457G>A NP_001365690.1:p.Gly2153Ser NC_000011.10:121166708:G:A p.(Gly2153Ser) NC_000011.10:121166708:G:A p.(Gly2153Ser) NC_000011.10:121166708:G:A Identity +NM_001410908.1:c.4610A>T NP_001397837.1:p.Gln1537Leu NC_000007.14:105112491:A:T p.(Gln1537Leu) NC_000007.14:105112491:A:T p.(Gln1537Leu) NC_000007.14:105112491:A:T Identity +NM_001139498.2:c.389A>G NP_001132970.1:p.Glu130Gly NC_000023.11:138635530:T:C p.(Glu130Gly) NC_000023.11:138635530:T:C p.(Glu130Gly) NC_000023.11:138635530:T:C Identity +NM_000152.5:c.158A>G NP_000143.2:p.His53Arg NC_000017.11:80104743:A:G p.(His53Arg) NC_000017.11:80104743:A:G p.(His53Arg) NC_000017.11:80104743:A:G Identity +NM_017547.4:c.354G>C NP_060017.1:p.Gln118His NC_000011.10:126273015:G:C p.(Gln118His) NC_000011.10:126273015:G:C p.(Gln118His) NC_000011.10:126273015:G:C Identity +NM_000152.5:c.2635C>G NP_000143.2:p.Leu879Val NC_000017.11:80118345:C:G p.(Leu879Val) NC_000017.11:80118345:C:G p.(Leu879Val) NC_000017.11:80118345:C:G Identity +NM_000152.5:c.1960T>G NP_000143.2:p.Ser654Ala NC_000017.11:80112946:T:G p.(Ser654Ala) NC_000017.11:80112946:T:G p.(Ser654Ala) NC_000017.11:80112946:T:G Identity +NM_001126054.3:c.589G>T NP_001119526.1:p.Gly197Ter NC_000023.11:41665395:C:A p.(Gly197Ter) NC_000023.11:41665395:C:A p.(Gly197Ter) NC_000023.11:41665395:C:A Identity +NM_004522.3:c.610A>G NP_004513.1:p.Arg204Gly NC_000002.12:148946918:A:G p.(Arg204Gly) NC_000002.12:148946918:A:G p.(Arg204Gly) NC_000002.12:148946918:A:G Identity +NM_000037.4:c.1828G>T NP_000028.3:p.Ala610Ser NC_000008.11:41708947:C:A p.(Ala610Ser) NC_000008.11:41708947:C:A p.(Ala610Ser) NC_000008.11:41708947:C:A Identity +NM_001252100.2:c.16G>T NP_001239029.1:p.Asp6Tyr NC_000001.11:201023367:C:A p.(Asp6Tyr) NC_000001.11:201023367:C:A p.(Asp6Tyr) NC_000001.11:201023367:C:A Identity +NM_001363602.2:c.537C>A NP_001350531.1:p.Tyr179Ter NC_000019.10:1393322:C:A p.(Tyr179Ter) NC_000019.10:1393322:C:A p.(Tyr179Ter) NC_000019.10:1393322:C:A Identity +NM_001068.3:c.3526_3528del NP_001059.2:p.Pro1176del NC_000003.12:25615252:AGGAG:AG p.(Pro1176del) NC_000003.12:25615252:AGGAG:AG p.(Pro1176del) NC_000003.12:25615252:AGG: Identity +NM_015001.3:c.7818C>A NP_055816.2:p.Asp2606Glu NC_000001.11:15934057:C:A p.(Asp2606Glu) NC_000001.11:15934057:C:A p.(Asp2606Glu) NC_000001.11:15934057:C:A Identity +NM_001288705.3:c.740C>T NP_001275634.1:p.Pro247Leu NC_000005.10:150077424:G:A p.(Pro247Leu) NC_000005.10:150077424:G:A p.(Pro247Leu) NC_000005.10:150077424:G:A Identity +NM_001305424.2:c.4480G>T NP_001292353.1:p.Val1494Phe NC_000001.11:240330632:G:T p.(Val1494Phe) NC_000001.11:240330632:G:T p.(Val1494Phe) NC_000001.11:240330632:G:T Identity +NM_001042749.2:c.867del NP_001036214.1:p.Phe289fs NC_000023.11:124049049:TTT:TT p.(Phe289LeufsTer13) NC_000023.11:124049049:TTT:TT p.(Phe289LeufsTer13) NC_000023.11:124049051:T: Analogous +NM_001145527.2:c.401C>T NP_001138999.1:p.Ala134Val NC_000009.12:137716940:C:T p.(Ala134Val) NC_000009.12:137716940:C:T p.(Ala134Val) NC_000009.12:137716940:C:T Identity +NM_001128620.2:c.1409T>A NP_001122092.1:p.Leu470Gln NC_000011.10:77336089:A:T p.(Leu470Gln) NC_000011.10:77336089:A:T p.(Leu470Gln) NC_000011.10:77336089:A:T Identity +NM_001317195.3:c.958G>A NP_001304124.1:p.Asp320Asn NC_000016.10:68681057:G:A p.(Asp320Asn) NC_000016.10:68681057:G:A p.(Asp320Asn) NC_000016.10:68681057:G:A Identity +NM_001284301.3:c.2924A>T NP_001271230.1:p.Asn975Ile NC_000007.14:36443818:A:T p.(Asn975Ile) NC_000007.14:36443818:A:T p.(Asn975Ile) NC_000007.14:36443818:A:T Identity +NM_001130846.4:c.579T>A NP_001124318.2:p.Ser193Arg NC_000023.11:130130143:A:T p.(Ser193Arg) NC_000023.11:130130143:A:T p.(Ser193Arg) NC_000023.11:130130143:A:T Identity +NM_170606.3:c.303C>G NP_733751.2:p.Ser101Arg NC_000007.14:152330686:G:C p.(Ser101Arg) NC_000007.14:152330686:G:C p.(Ser101Arg) NC_000007.14:152330686:G:C Identity +NM_001291296.2:c.103G>T NP_001278225.1:p.Ala35Ser NC_000019.10:47484057:C:A p.(Ala35Ser) NC_000019.10:47484057:C:A p.(Ala35Ser) NC_000019.10:47484057:C:A Identity +NM_001105537.4:c.1163A>C NP_001099007.1:p.Gln388Pro NC_000002.12:218648744:T:G p.(Gln388Pro) NC_000002.12:218648744:T:G p.(Gln388Pro) NC_000002.12:218648744:T:G Identity +NM_001032381.2:c.731C>G NP_001027553.1:p.Pro244Arg NC_000023.11:48903016:C:G p.(Pro244Arg) NC_000023.11:48903016:C:G p.(Pro244Arg) NC_000023.11:48903016:C:G Identity +NM_006593.4:c.1772C>G NP_006584.1:p.Ala591Gly NC_000002.12:161423949:C:G p.(Ala591Gly) NC_000002.12:161423949:C:G p.(Ala591Gly) NC_000002.12:161423949:C:G Identity +NM_000261.2:c.1035A>G NP_000252.1:p.Ile345Met NC_000001.11:171636404:T:C p.(Ile345Met) NC_000001.11:171636404:T:C p.(Ile345Met) NC_000001.11:171636404:T:C Identity +NM_001372044.2:c.3401G>A NP_001358973.1:p.Gly1134Glu NC_000022.11:50721008:G:A ERR:TranscriptMismatch:expected G, found C at transcript indices 3770..3771 NC_000022.11:50721047:C:A ERR:NM_001372044.2:c.3401G>A: Variant reference (G) does not agree with reference sequence (C) ERR:NM_001372044.2:c.3401G>A: Variant reference (G) does not agree with reference sequence (C) Unknown +NM_001364948.3:c.339G>A NP_001351877.1:p.Met113Ile NC_000007.14:141611235:G:A p.(Met113Ile) NC_000007.14:141611235:G:A p.(Met113Ile) NC_000007.14:141611235:G:A Identity +NM_001394998.1:c.2096A>G NP_001381927.1:p.Gln699Arg NC_000017.11:63354903:A:G p.(Gln699Arg) NC_000017.11:63354903:A:G p.(Gln699Arg) NC_000017.11:63354903:A:G Identity +NM_017934.7:c.1802G>T NP_060404.4:p.Arg601Ile NC_000006.12:79001975:C:A p.(Arg601Ile) NC_000006.12:79001975:C:A p.(Arg601Ile) NC_000006.12:79001975:C:A Identity +NM_000044.6:c.2339G>A NP_000035.2:p.Arg780Gln NC_000023.11:67721852:G:A p.(Arg780Gln) NC_000023.11:67721852:G:A p.(Arg780Gln) NC_000023.11:67721852:G:A Identity +NM_001100913.3:c.2472G>T NP_001094383.2:p.Lys824Asn NC_000014.9:105392834:G:T p.(Lys824Asn) NC_000014.9:105392834:G:T p.(Lys824Asn) NC_000014.9:105392834:G:T Identity +NM_014208.3:c.398C>A NP_055023.2:p.Ala133Glu NC_000004.12:87612583:C:A p.(Ala133Glu) NC_000004.12:87612583:C:A p.(Ala133Glu) NC_000004.12:87612583:C:A Identity +NM_003108.4:c.191G>T NP_003099.1:p.Arg64Leu NC_000002.12:5692911:G:T p.(Arg64Leu) NC_000002.12:5692911:G:T p.(Arg64Leu) NC_000002.12:5692911:G:T Identity +NM_001376.5:c.6982C>T NP_001367.2:p.Pro2328Ser NC_000014.9:102012437:C:T p.(Pro2328Ser) NC_000014.9:102012437:C:T p.(Pro2328Ser) NC_000014.9:102012437:C:T Identity +NM_000314.8:c.580T>A NP_000305.3:p.Leu194Met NC_000010.11:87952204:T:A p.(Leu194Met) NC_000010.11:87952204:T:A p.(Leu194Met) NC_000010.11:87952204:T:A Identity +NM_001256850.1:c.32563_32565del NP_001243779.1:p.Glu10855del NC_000002.12:178679957:CTC: p.(Glu10855del) NC_000002.12:178679957:CTC: p.(Glu10855del) NC_000002.12:178679957:CTC: Identity +NM_003108.4:c.359C>A NP_003099.1:p.Pro120His NC_000002.12:5693079:C:A p.(Pro120His) NC_000002.12:5693079:C:A p.(Pro120His) NC_000002.12:5693079:C:A Identity +NM_001256850.1:c.2180A>G NP_001243779.1:p.Tyr727Cys NC_000002.12:178786037:T:C p.(Tyr727Cys) NC_000002.12:178786037:T:C p.(Tyr727Cys) NC_000002.12:178786037:T:C Identity +NM_001256850.1:c.74801C>T NP_001243779.1:p.Thr24934Ile NC_000002.12:178566407:G:A p.(Thr24934Ile) NC_000002.12:178566407:G:A p.(Thr24934Ile) NC_000002.12:178566407:G:A Identity +NM_000535.7:c.2335G>C NP_000526.2:p.Gly779Arg NC_000007.14:5977697:C:G p.(Gly779Arg) NC_000007.14:5977697:C:G p.(Gly779Arg) NC_000007.14:5977697:C:G Identity +NM_006015.6:c.6169C>T NP_006006.3:p.Arg2057Trp NC_000001.11:26780066:C:T p.(Arg2057Trp) NC_000001.11:26780066:C:T p.(Arg2057Trp) NC_000001.11:26780066:C:T Identity +NM_002843.4:c.1621A>T NP_002834.3:p.Ser541Cys NC_000011.10:48136043:A:T p.(Ser541Cys) NC_000011.10:48136043:A:T p.(Ser541Cys) NC_000011.10:48136043:A:T Identity +NM_001844.5:c.3626G>A NP_001835.3:p.Gly1209Asp NC_000012.12:47975576:C:T p.(Gly1209Asp) NC_000012.12:47975576:C:T p.(Gly1209Asp) NC_000012.12:47975576:C:T Identity +NM_001204.7:c.1250T>G NP_001195.2:p.Phe417Cys NC_000002.12:202532705:T:G p.(Phe417Cys) NC_000002.12:202532705:T:G p.(Phe417Cys) NC_000002.12:202532705:T:G Identity +NM_173543.3:c.2047G>T NP_775814.2:p.Glu683Ter NC_000003.12:138064722:C:A p.(Glu683Ter) NC_000003.12:138064722:C:A p.(Glu683Ter) NC_000003.12:138064722:C:A Identity +NM_000368.4:c.1675delT NP_000359.1:p.Cys559Alafs NC_000009.12:132905902:A: ERR:Data provider error: ValueError: Transcript NM_000368.4 not found ERR:Data provider error: ValueError: Transcript NM_000368.4 not found ERR:AlignmentMapper(tx_ac=NM_000368.4, alt_ac=NM_000368.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000368.4, alt_ac=NM_000368.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000368.4 not found +NM_001042692.3:c.632T>G NP_001036157.1:p.Val211Gly NC_000002.12:63404373:A:C p.(Val211Gly) NC_000002.12:63404373:A:C p.(Val211Gly) NC_000002.12:63404373:A:C Identity +NM_001350162.2:c.5590G>C NP_001337091.1:p.Glu1864Gln NC_000008.11:30844576:C:G p.(Glu1864Gln) NC_000008.11:30844576:C:G p.(Glu1864Gln) NC_000008.11:30844576:C:G Identity +NM_001203247.2:c.1867G>A NP_001190176.1:p.Gly623Ser NC_000007.14:148811689:C:T p.(Gly623Ser) NC_000007.14:148811689:C:T p.(Gly623Ser) NC_000007.14:148811689:C:T Identity +NM_000222.3:c.237del NP_000213.1:p.Asn80fs NC_000004.12:54695680:G: p.(Asn80MetfsTer24) NC_000004.12:54695680:G: p.(Asn80MetfsTer24) NC_000004.12:54695680:G: Analogous +NM_013444.3:c.509_510delAGinsTA NP_038472.2:p.Gln170Leu NC_000023.11:56564381:AG:TA ERR:Data provider error: ValueError: Transcript NM_013444.3 not found ERR:Data provider error: ValueError: Transcript NM_013444.3 not found ERR:AlignmentMapper(tx_ac=NM_013444.3, alt_ac=NM_013444.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_013444.3, alt_ac=NM_013444.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_013444.3 not found +NM_001386500.1:c.3025C>T NP_001373429.1:p.Arg1009Trp NC_000001.11:11228672:G:A p.(Arg1009Trp) NC_000001.11:11228672:G:A p.(Arg1009Trp) NC_000001.11:11228672:G:A Identity +NM_001304815.2:c.5422A>G NP_001291744.1:p.Lys1808Glu NC_000019.10:42291462:A:G p.(Lys1808Glu) NC_000019.10:42291462:A:G p.(Lys1808Glu) NC_000019.10:42291462:A:G Identity +NM_001286074.2:c.4222A>G NP_001273003.2:p.Thr1408Ala NC_000023.11:71407988:A:G p.(Thr1408Ala) NC_000023.11:71407988:A:G p.(Thr1408Ala) NC_000023.11:71407988:A:G Identity +NM_001297595.2:c.599C>A NP_001284524.1:p.Thr200Lys NC_000019.10:16846985:C:A p.(Thr200Lys) NC_000019.10:16846985:C:A p.(Thr200Lys) NC_000019.10:16846985:C:A Identity +NM_001136123.2:c.2582A>T NP_001129595.1:p.Asn861Ile NC_000010.11:100938663:A:T p.(Asn861Ile) NC_000010.11:100938663:A:T p.(Asn861Ile) NC_000010.11:100938663:A:T Identity +NM_001003941.3:c.890C>A NP_001003941.1:p.Ser297Tyr NC_000007.14:44674511:C:A p.(Ser297Tyr) NC_000007.14:44674511:C:A p.(Ser297Tyr) NC_000007.14:44674511:C:A Identity +NM_017617.5:c.4901CCG[1] NP_060087.3:p.Ala1635del NC_000009.12:136504784:CGGCGGC:CGGC p.(Ala1635del) NC_000009.12:136504789:G:CGG ERR:Parse ERR:Parse Identity +NM_001256324.2:c.1641del NP_001243253.1:p.Gly548fs NC_000017.11:50576042:T: p.(Gly548ValfsTer16) NC_000017.11:50576042:T: p.(Gly548ValfsTer16) NC_000017.11:50576042:T: Analogous +NM_000087.5:c.610G>A NP_000078.3:p.Asp204Asn NC_000004.12:47940804:C:T p.(Asp204Asn) NC_000004.12:47940804:C:T p.(Asp204Asn) NC_000004.12:47940804:C:T Identity +NM_002843.4:c.3502A>G NP_002834.3:p.Met1168Val NC_000011.10:48159992:A:G p.(Met1168Val) NC_000011.10:48159992:A:G p.(Met1168Val) NC_000011.10:48159992:A:G Identity +NM_001844.5:c.4345_4346del NP_001835.3:p.Val1449fs NC_000012.12:47973524:ACA:A p.(Val1449TyrfsTer15) NC_000012.12:47973524:ACA:A p.(Val1449TyrfsTer15) NC_000012.12:47973524:AC: Analogous +NM_032437.4:c.830del NP_115813.2:p.Gly277fs NC_000001.11:63545939:GG:G p.(Gly277ValfsTer5) NC_000001.11:63545939:GG:G p.(Gly277ValfsTer5) NC_000001.11:63545940:G: Analogous +NM_014820.5:c.1612A>G NP_055635.3:p.Ile538Val NC_000003.12:100368104:T:C p.(Ile538Val) NC_000003.12:100368104:T:C p.(Ile538Val) NC_000003.12:100368104:T:C Identity +NM_001114182.3:c.1075G>T NP_001107654.1:p.Ala359Ser NC_000012.12:43782439:G:T p.(Ala359Ser) NC_000012.12:43782439:G:T p.(Ala359Ser) NC_000012.12:43782439:G:T Identity +NM_001284271.2:c.1888C>T NP_001271200.1:p.Arg630Cys NC_000006.12:100725552:G:A p.(Arg630Cys) NC_000006.12:100725552:G:A p.(Arg630Cys) NC_000006.12:100725552:G:A Identity +NM_001382394.1:c.655T>A NP_001369323.1:p.Phe219Ile NC_000002.12:39054657:A:T p.(Phe219Ile) NC_000002.12:39054657:A:T p.(Phe219Ile) NC_000002.12:39054657:A:T Identity +NM_001370598.1:c.2588G>T NP_001357527.1:p.Gly863Val NC_000012.12:111322427:G:T p.(Gly863Val) NC_000012.12:111322427:G:T p.(Gly863Val) NC_000012.12:111322427:G:T Identity +NM_001098623.2:c.13359C>A NP_001092093.2:p.Cys4453Ter NC_000001.11:228316781:C:A p.(Cys4453Ter) NC_000001.11:228316781:C:A p.(Cys4453Ter) NC_000001.11:228316781:C:A Identity +NM_000069.3:c.1189_1190del NP_000060.2:p.Ser397fs NC_000001.11:201084991:CTCTCT:CTCT p.(Ser397ProfsTer3) NC_000001.11:201084991:CTCTCT:CTCT p.(Ser397ProfsTer3) NC_000001.11:201084991:CT: Analogous +NM_005121.3:c.3786_3787insAA NP_005112.2:p.Pro1263fs NC_000017.11:61982216::TT p.(Pro1263AsnfsTer9) NC_000017.11:61982215:G:TT p.(Pro1263AsnfsTer9) NC_000017.11:61982216:GG:TT Analogous +NM_001405661.1:c.3042_3043CA[1] NP_001392590.1:p.Thr1015Serfs NC_000013.11:112871784:CACA:CA p.(Thr1015SerfsTer170) NC_000013.11:112871784:CA:CA ERR:Parse ERR:Parse Analogous +NM_001244580.2:c.8630C>T NP_001231509.1:p.Pro2877Leu NC_000007.14:98981784:C:T p.(Pro2877Leu) NC_000007.14:98981784:C:T p.(Pro2877Leu) NC_000007.14:98981784:C:T Identity +NM_001349370.3:c.5453C>G NP_001336299.1:p.Thr1818Ser NC_000003.12:47084194:G:C p.(Thr1818Ser) NC_000003.12:47084194:G:C p.(Thr1818Ser) NC_000003.12:47084194:G:C Identity +NM_001042355.2:c.995A>G NP_001035814.1:p.Asn332Ser NC_000016.10:50776259:A:G p.(Asn332Ser) NC_000016.10:50776259:A:G p.(Asn332Ser) NC_000016.10:50776259:A:G Identity +NM_001080476.3:c.668T>A NP_001073945.1:p.Leu223Gln NC_000004.12:43020393:T:A p.(Leu223Gln) NC_000004.12:43020393:T:A p.(Leu223Gln) NC_000004.12:43020393:T:A Identity +NM_001349608.2:c.2524A>G NP_001336537.1:p.Met842Val NC_000001.11:7665160:A:G p.(Met842Val) NC_000001.11:7665160:A:G p.(Met842Val) NC_000001.11:7665160:A:G Identity +NM_001111125.3:c.2551C>T NP_001104595.1:p.Gln851Ter NC_000023.11:53248144:G:A p.(Gln851Ter) NC_000023.11:53248144:G:A p.(Gln851Ter) NC_000023.11:53248144:G:A Identity +NM_206933.4:c.5191_5192del NP_996816.3:p.Met1731fs NC_000001.11:216083561:ATATAT:ATAT p.(Met1731ValfsTer8) NC_000001.11:216083561:ATATAT:ATAT p.(Met1731ValfsTer8) NC_000001.11:216083561:AT: Analogous +NM_000356.4:c.2868del NP_000347.2:p.Ala958fs NC_000005.10:150389934:CCCCC:CCCC p.(Ala958ProfsTer38) NC_000005.10:150389934:CCCCC:CCCC p.(Ala958ProfsTer38) NC_000005.10:150389938:C: Analogous +NM_001109662.4:c.10249C>T NP_001103132.4:p.His3417Tyr NC_000012.12:112184746:G:A p.(His3417Tyr) NC_000012.12:112184746:G:A p.(His3417Tyr) NC_000012.12:112184746:G:A Identity +NM_001127453.2:c.43G>A NP_001120925.1:p.Ala15Thr NC_000007.14:24749731:C:T p.(Ala15Thr) NC_000007.14:24749731:C:T p.(Ala15Thr) NC_000007.14:24749731:C:T Identity +NM_001163771.2:c.200A>C NP_001157243.1:p.Gln67Pro NC_000006.12:33189351:T:G p.(Gln67Pro) NC_000006.12:33189351:T:G p.(Gln67Pro) NC_000006.12:33189351:T:G Identity +NM_001031804.3:c.959A>G NP_001026974.1:p.Lys320Arg NC_000016.10:79598943:T:C p.(Lys320Arg) NC_000016.10:79598943:T:C p.(Lys320Arg) NC_000016.10:79598943:T:C Identity +NM_000245.4:c.493C>T NP_000236.2:p.Gln165Ter NC_000007.14:116699576:C:T p.(Gln165Ter) NC_000007.14:116699576:C:T p.(Gln165Ter) NC_000007.14:116699576:C:T Identity +NM_000535.7:c.967C>T NP_000526.2:p.Leu323Phe NC_000007.14:5991993:G:A p.(Leu323Phe) NC_000007.14:5991993:G:A p.(Leu323Phe) NC_000007.14:5991993:G:A Identity +NM_012310.5:c.1548_1551delinsATCT NP_036442.3:p.Leu517Ser NC_000023.11:70353680:TCTC:ATCT p.(Leu517Ser) NC_000023.11:70353680:TCTC:ATCT p.(Leu517Ser) NC_000023.11:70353680:TCTC:ATCT Identity +NM_001411020.1:c.1110C>A NP_001397949.1:p.Cys370Ter NC_000014.9:50160073:G:T p.(Cys370Ter) NC_000014.9:50160073:G:T p.(Cys370Ter) NC_000014.9:50160073:G:T Identity +NM_000076.2:c.757G>A NP_000067.1:p.Gly253Ser NC_000011.10:2884732:C:T p.(Gly253Ser) NC_000011.10:2884732:C:T p.(Gly253Ser) NC_000011.10:2884732:C:T Identity +NM_005732.4:c.3578C>G NP_005723.2:p.Thr1193Arg NC_000005.10:132638182:C:G p.(Thr1193Arg) NC_000005.10:132638182:C:G p.(Thr1193Arg) NC_000005.10:132638182:C:G Identity +NM_000136.3:c.704C>T NP_000127.2:p.Pro235Leu NC_000009.12:95135484:G:A p.(Pro235Leu) NC_000009.12:95135484:G:A p.(Pro235Leu) NC_000009.12:95135484:G:A Identity +NM_015103.3:c.880_881del NP_055918.3:p.Gln294fs NC_000003.12:129605758:TGTG:TG p.(Gln294ValfsTer137) NC_000003.12:129605758:TGTG:TG p.(Gln294ValfsTer137) NC_000003.12:129605758:TG: Analogous +NM_000336.3:c.1859A>G NP_000327.2:p.Tyr620Cys NC_000016.10:23380736:A:G p.(Tyr620Cys) NC_000016.10:23380736:A:G p.(Tyr620Cys) NC_000016.10:23380736:A:G Identity +NM_001128839.3:c.1201G>C NP_001122311.1:p.Val401Leu NC_000003.12:53673106:G:C p.(Val401Leu) NC_000003.12:53673106:G:C p.(Val401Leu) NC_000003.12:53673106:G:C Identity +NM_001318324.2:c.683T>C NP_001305253.1:p.Val228Ala NC_000009.12:131132614:T:C p.(Val228Ala) NC_000009.12:131132614:T:C p.(Val228Ala) NC_000009.12:131132614:T:C Identity +NM_017649.5:c.1025T>C NP_060119.3:p.Leu342Pro NC_000010.11:102919504:T:C p.(Leu342Pro) NC_000010.11:102919504:T:C p.(Leu342Pro) NC_000010.11:102919504:T:C Identity +NM_001145844.1:c.1355G>A NP_001139316.1:p.Trp452Ter NC_000003.12:78670180:C:T ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_001363147.1:c.1528G>A NP_001350076.1:p.Ala510Thr NC_000005.10:71656809:G:A p.(Ala510Thr) NC_000005.10:71656809:G:A p.(Ala510Thr) NC_000005.10:71656809:G:A Identity +NM_001351444.2:c.6386C>T NP_001338373.1:p.Thr2129Ile NC_000006.12:87260434:C:T p.(Thr2129Ile) NC_000006.12:87260434:C:T p.(Thr2129Ile) NC_000006.12:87260434:C:T Identity +NM_001365276.2:c.4556C>T NP_001352205.1:p.Pro1519Leu NC_000006.12:32073771:G:A p.(Pro1519Leu) NC_000006.12:32073771:G:A p.(Pro1519Leu) NC_000006.12:32073771:G:A Identity +NM_000177.5:c.115dup NP_000168.1:p.Ala39fs NC_000009.12:121299971:GGGGG:GGGGGG p.(Ala39GlyfsTer73) NC_000009.12:121299971:GGGGG:GGGGGG p.(Ala39GlyfsTer73) ERR:SPDI Analogous +NM_001314042.2:c.1277A>G NP_001300971.1:p.Lys426Arg NC_000001.11:202758418:T:C p.(Lys426Arg) NC_000001.11:202758418:T:C p.(Lys426Arg) NC_000001.11:202758418:T:C Identity +NM_001278616.2:c.2836T>C NP_001265545.1:p.Cys946Arg NC_000002.12:110641092:A:G p.(Cys946Arg) NC_000002.12:110641092:A:G p.(Cys946Arg) NC_000002.12:110641092:A:G Identity +NM_001351846.2:c.340A>C NP_001338775.1:p.Ser114Arg NC_000016.10:1495349:A:C p.(Ser114Arg) NC_000016.10:1495349:A:C p.(Ser114Arg) NC_000016.10:1495349:A:C Identity +NM_000190.4:c.767A>G NP_000181.2:p.His256Arg NC_000011.10:119092518:A:G p.(His256Arg) NC_000011.10:119092518:A:G p.(His256Arg) NC_000011.10:119092518:A:G Identity +NM_178170.3:c.508A>T NP_835464.1:p.Ile170Phe NC_000017.11:28735260:A:T p.(Ile170Phe) NC_000017.11:28735260:A:T p.(Ile170Phe) NC_000017.11:28735260:A:T Identity +NM_001142463.3:c.1240C>G NP_001135935.1:p.Gln414Glu NC_000023.11:154774685:C:G p.(Gln414Glu) NC_000023.11:154774685:C:G p.(Gln414Glu) NC_000023.11:154774685:C:G Identity +NM_001142966.3:c.833A>T NP_001136438.1:p.Asp278Val NC_000018.10:21439520:A:T p.(Asp278Val) NC_000018.10:21439520:A:T p.(Asp278Val) NC_000018.10:21439520:A:T Identity +NM_000369.5:c.491T>A NP_000360.2:p.Met164Lys NC_000014.9:81092553:T:A p.(Met164Lys) NC_000014.9:81092553:T:A p.(Met164Lys) NC_000014.9:81092553:T:A Identity +NM_001113491.2:c.1400C>G NP_001106963.1:p.Ser467Cys NC_000017.11:77492639:C:G p.(Ser467Cys) NC_000017.11:77492639:C:G p.(Ser467Cys) NC_000017.11:77492639:C:G Identity +NM_001113491.2:c.1522G>A NP_001106963.1:p.Val508Ile NC_000017.11:77493024:G:A p.(Val508Ile) NC_000017.11:77493024:G:A p.(Val508Ile) NC_000017.11:77493024:G:A Identity +NM_198578.4:c.1267T>C NP_940980.4:p.Ser423Pro NC_000012.12:40252994:T:C p.(Ser423Pro) NC_000012.12:40252994:T:C p.(Ser423Pro) NC_000012.12:40252994:T:C Identity +NM_006218.4:c.1681A>G NP_006209.2:p.Ile561Val NC_000003.12:179219211:A:G p.(Ile561Val) NC_000003.12:179219211:A:G p.(Ile561Val) NC_000003.12:179219211:A:G Identity +NM_001130144.3:c.2104G>A NP_001123616.1:p.Glu702Lys NC_000011.10:65547441:C:T p.(Glu702Lys) NC_000011.10:65547441:C:T p.(Glu702Lys) NC_000011.10:65547441:C:T Identity +NM_006767.4:c.721T>G NP_006758.2:p.Phe241Val NC_000022.11:20990454:T:G p.(Phe241Val) NC_000022.11:20990454:T:G p.(Phe241Val) NC_000022.11:20990454:T:G Identity +NM_006767.4:c.1901A>G NP_006758.2:p.Gln634Arg NC_000022.11:20994984:A:G p.(Gln634Arg) NC_000022.11:20994984:A:G p.(Gln634Arg) NC_000022.11:20994984:A:G Identity +NM_006767.4:c.2273C>G NP_006758.2:p.Ala758Gly NC_000022.11:20996748:C:G p.(Ala758Gly) NC_000022.11:20996748:C:G p.(Ala758Gly) NC_000022.11:20996748:C:G Identity +NM_206933.4:c.10593del NP_996816.3:p.Ile3532fs NC_000001.11:215782188:AA:A p.(Ile3532PhefsTer18) NC_000001.11:215782188:AA:A p.(Ile3532PhefsTer18) NC_000001.11:215782188:A: Analogous +NM_001287489.2:c.5714G>A NP_001274418.1:p.Gly1905Asp NC_000002.12:26460745:C:T p.(Gly1905Asp) NC_000002.12:26460745:C:T p.(Gly1905Asp) NC_000002.12:26460745:C:T Identity +NM_000154.2:c.686dup NP_000145.1:p.His229fs NC_000017.11:75762810:T:TT p.(His229GlnfsTer16) NC_000017.11:75762810:T:TT p.(His229GlnfsTer16) ERR:SPDI Analogous +NM_001282403.2:c.221A>C NP_001269332.1:p.Lys74Thr NC_000007.14:76054983:A:C p.(Lys74Thr) NC_000007.14:76054983:A:C p.(Lys74Thr) NC_000007.14:76054983:A:C Identity +NM_000368.5:c.1418T>A NP_000359.1:p.Ile473Asn NC_000009.12:132906750:A:T p.(Ile473Asn) NC_000009.12:132906750:A:T p.(Ile473Asn) NC_000009.12:132906750:A:T Identity +NM_001005476.4:c.3383T>C NP_001005476.1:p.Phe1128Ser NC_000002.12:158680609:T:C p.(Phe1128Ser) NC_000002.12:158680609:T:C p.(Phe1128Ser) NC_000002.12:158680609:T:C Identity +NM_001142571.2:c.443T>C NP_001136043.1:p.Leu148Pro NC_000017.11:35107084:A:G p.(Leu148Pro) NC_000017.11:35107084:A:G p.(Leu148Pro) NC_000017.11:35107084:A:G Identity +NM_002432.3:c.643G>A NP_002423.1:p.Val215Met NC_000001.11:158845658:G:A p.(Val215Met) NC_000001.11:158845658:G:A p.(Val215Met) NC_000001.11:158845658:G:A Identity +NM_001040142.2:c.3333A>C NP_001035232.1:p.Glu1111Asp NC_000002.12:165354604:A:C p.(Glu1111Asp) NC_000002.12:165354604:A:C p.(Glu1111Asp) NC_000002.12:165354604:A:C Identity +NM_001375991.1:c.185A>G NP_001362920.1:p.Asn62Ser NC_000017.11:4946767:T:C p.(Asn62Ser) NC_000017.11:4946767:T:C p.(Asn62Ser) NC_000017.11:4946767:T:C Identity +NM_002769.5:c.552C>A NP_002760.1:p.Phe184Leu NC_000007.14:142752527:C:A p.(Phe184Leu) NC_000007.14:142752527:C:A p.(Phe184Leu) NC_000007.14:142752527:C:A Identity +NM_001346599.2:c.119A>G NP_001333528.1:p.Asn40Ser NC_000007.14:105542486:A:G p.(Asn40Ser) NC_000007.14:105542486:A:G p.(Asn40Ser) NC_000007.14:105542486:A:G Identity +NM_001365951.3:c.3323G>A NP_001352880.1:p.Gly1108Asp NC_000001.11:10337433:G:A p.(Gly1108Asp) NC_000001.11:10337433:G:A p.(Gly1108Asp) NC_000001.11:10337433:G:A Identity +NM_001193465.2:c.2657C>A NP_001180394.1:p.Thr886Lys NC_000017.11:46034166:G:T p.(Thr886Lys) NC_000017.11:46034166:G:T p.(Thr886Lys) NC_000017.11:46034166:G:T Identity +NM_002471.4:c.1587G>A NP_002462.2:p.Met529Ile NC_000014.9:23399031:C:T p.(Met529Ile) NC_000014.9:23399031:C:T p.(Met529Ile) NC_000014.9:23399031:C:T Identity +NM_199420.4:c.7037G>A NP_955452.3:p.Arg2346His NC_000003.12:121460164:C:T p.(Arg2346His) NC_000003.12:121460164:C:T p.(Arg2346His) NC_000003.12:121460164:C:T Identity +NM_199420.4:c.3448G>A NP_955452.3:p.Ala1150Thr NC_000003.12:121489482:C:T p.(Ala1150Thr) NC_000003.12:121489482:C:T p.(Ala1150Thr) NC_000003.12:121489482:C:T Identity +NM_199420.4:c.5315A>G NP_955452.3:p.Tyr1772Cys NC_000003.12:121487615:T:C p.(Tyr1772Cys) NC_000003.12:121487615:T:C p.(Tyr1772Cys) NC_000003.12:121487615:T:C Identity +LRG_515t1:c.2100G>C LRG_515p1:p.Gln700His NC_000009.12:95468900:C:G ERR:Data provider error: ValueError: Transcript LRG_515t1 not found ERR:Data provider error: ValueError: Transcript LRG_515t1 not found ERR:AlignmentMapper(tx_ac=LRG_515t1, alt_ac=LRG_515t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_515t1, alt_ac=LRG_515t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_515t1 not found +NM_199420.4:c.88A>G NP_955452.3:p.Ser30Gly NC_000003.12:121545789:T:C p.(Ser30Gly) NC_000003.12:121545789:T:C p.(Ser30Gly) NC_000003.12:121545789:T:C Identity +NM_001081640.2:c.1957T>A NP_001075109.1:p.Leu653Ile NC_000008.11:47929947:A:T p.(Leu653Ile) NC_000008.11:47929947:A:T p.(Leu653Ile) NC_000008.11:47929947:A:T Identity +NM_001081640.2:c.2661C>G NP_001075109.1:p.Asp887Glu NC_000008.11:47914020:G:C p.(Asp887Glu) NC_000008.11:47914020:G:C p.(Asp887Glu) NC_000008.11:47914020:G:C Identity +NM_015557.3:c.4572C>A NP_056372.1:p.Tyr1524Ter NC_000001.11:6124074:G:T p.(Tyr1524Ter) NC_000001.11:6124074:G:T p.(Tyr1524Ter) NC_000001.11:6124074:G:T Identity +NM_001330288.2:c.3364C>T NP_001317217.1:p.Pro1122Ser NC_000012.12:56164599:G:A p.(Pro1122Ser) NC_000012.12:56164599:G:A p.(Pro1122Ser) NC_000012.12:56164599:G:A Identity +NM_001308176.2:c.2159A>G NP_001295105.1:p.Lys720Arg NC_000018.10:27983040:T:C p.(Lys720Arg) NC_000018.10:27983040:T:C p.(Lys720Arg) NC_000018.10:27983040:T:C Identity +NM_001318193.2:c.636G>T NP_001305122.2:p.Glu212Asp NC_000016.10:2040031:C:A p.(Glu212Asp) NC_000016.10:2040031:C:A p.(Glu212Asp) NC_000016.10:2040031:C:A Identity +NM_006904.7:c.1004A>G NP_008835.5:p.Lys335Arg NC_000008.11:47939659:T:C p.(Lys335Arg) NC_000008.11:47939659:T:C p.(Lys335Arg) NC_000008.11:47939659:T:C Identity +NM_001081640.2:c.11204C>G NP_001075109.1:p.Pro3735Arg NC_000008.11:47782569:G:C p.(Pro3735Arg) NC_000008.11:47782569:G:C p.(Pro3735Arg) NC_000008.11:47782569:G:C Identity +NM_001081640.2:c.2051A>G NP_001075109.1:p.Glu684Gly NC_000008.11:47929853:T:C p.(Glu684Gly) NC_000008.11:47929853:T:C p.(Glu684Gly) NC_000008.11:47929853:T:C Identity +NM_001081640.2:c.7567A>G NP_001075109.1:p.Asn2523Asp NC_000008.11:47837405:T:C p.(Asn2523Asp) NC_000008.11:47837405:T:C p.(Asn2523Asp) NC_000008.11:47837405:T:C Identity +NM_001081640.2:c.5200C>G NP_001075109.1:p.Pro1734Ala NC_000008.11:47879525:G:C p.(Pro1734Ala) NC_000008.11:47879525:G:C p.(Pro1734Ala) NC_000008.11:47879525:G:C Identity +NM_001098623.2:c.18614A>G NP_001092093.2:p.Gln6205Arg NC_000001.11:228353014:A:G p.(Gln6205Arg) NC_000001.11:228353014:A:G p.(Gln6205Arg) NC_000001.11:228353014:A:G Identity +NM_001098623.2:c.4412C>T NP_001092093.2:p.Thr1471Met NC_000001.11:228256752:C:T p.(Thr1471Met) NC_000001.11:228256752:C:T p.(Thr1471Met) NC_000001.11:228256752:C:T Identity +NM_001098623.2:c.1897T>A NP_001092093.2:p.Ser633Thr NC_000001.11:228215630:T:A p.(Ser633Thr) NC_000001.11:228215630:T:A p.(Ser633Thr) NC_000001.11:228215630:T:A Identity +NM_000244.4:c.392G>T NP_000235.3:p.Arg131Leu NC_000011.10:64809717:C:A p.(Arg131Leu) NC_000011.10:64809717:C:A p.(Arg131Leu) NC_000011.10:64809717:C:A Identity +NM_002354.3:c.441A>T NP_002345.2:p.Glu147Asp NC_000002.12:47375248:A:T p.(Glu147Asp) NC_000002.12:47375248:A:T p.(Glu147Asp) NC_000002.12:47375248:A:T Identity +NM_001166108.2:c.981T>A NP_001159580.1:p.His327Gln NC_000004.12:168668261:T:A p.(His327Gln) NC_000004.12:168668261:T:A p.(His327Gln) NC_000004.12:168668261:T:A Identity +NM_000127.3:c.1196A>T NP_000118.2:p.Asp399Val NC_000008.11:117830317:T:A p.(Asp399Val) NC_000008.11:117830317:T:A p.(Asp399Val) NC_000008.11:117830317:T:A Identity +NM_022725.4:c.394A>G NP_073562.1:p.Ser132Gly NC_000011.10:22625416:T:C p.(Ser132Gly) NC_000011.10:22625416:T:C p.(Ser132Gly) NC_000011.10:22625416:T:C Identity +NM_000127.3:c.644T>A NP_000118.2:p.Met215Lys NC_000008.11:118110402:A:T p.(Met215Lys) NC_000008.11:118110402:A:T p.(Met215Lys) NC_000008.11:118110402:A:T Identity +NM_016239.4:c.6599C>A NP_057323.3:p.Ser2200Ter NC_000017.11:18148117:C:A p.(Ser2200Ter) NC_000017.11:18148117:C:A p.(Ser2200Ter) NC_000017.11:18148117:C:A Identity +NM_000341.4:c.1772_1773del NP_000332.2:p.Arg591fs NC_000002.12:44320351:AGA:A p.(Arg591AsnfsTer18) NC_000002.12:44320351:AGA:A p.(Arg591AsnfsTer18) NC_000002.12:44320352:GA: Analogous +NM_001304815.2:c.5703G>T NP_001291744.1:p.Gln1901His NC_000019.10:42292174:G:T p.(Gln1901His) NC_000019.10:42292174:G:T p.(Gln1901His) NC_000019.10:42292174:G:T Identity +NM_001371986.1:c.1217G>C NP_001358915.1:p.Cys406Ser NC_000002.12:209815272:G:C p.(Cys406Ser) NC_000002.12:209815272:G:C p.(Cys406Ser) NC_000002.12:209815272:G:C Identity +NM_001127493.3:c.3912T>G NP_001120965.1:p.Phe1304Leu NC_000004.12:113341732:T:G p.(Phe1304Leu) NC_000004.12:113341732:T:G p.(Phe1304Leu) NC_000004.12:113341732:T:G Identity +NM_001407571.1:c.5209G>A NP_001394500.1:p.Val1737Met NC_000017.11:43047687:C:T p.(Val1737Met) NC_000017.11:43047687:C:T p.(Val1737Met) NC_000017.11:43047687:C:T Identity +NM_004064.5:c.451A>G NP_004055.1:p.Ile151Val NC_000012.12:12718289:A:G p.(Ile151Val) NC_000012.12:12718289:A:G p.(Ile151Val) NC_000012.12:12718289:A:G Identity +NM_001269039.3:c.1119G>C NP_001255968.1:p.Glu373Asp NC_000010.11:111007625:G:C p.(Glu373Asp) NC_000010.11:111007625:G:C p.(Glu373Asp) NC_000010.11:111007625:G:C Identity +NM_002907.4:c.1631A>G NP_002898.2:p.Lys544Arg NC_000012.12:21471463:T:C p.(Lys544Arg) NC_000012.12:21471463:T:C p.(Lys544Arg) NC_000012.12:21471463:T:C Identity +NM_003801.4:c.7C>G NP_003792.1:p.Leu3Val NC_000008.11:144082736:C:G p.(Leu3Val) NC_000008.11:144082736:C:G p.(Leu3Val) NC_000008.11:144082736:C:G Identity +NM_001408008.1:c.1036_1037del NP_001394937.1:p.Leu346fs NC_000008.11:144450430:AG: p.(Leu346GlyfsTer49) NC_000008.11:144450430:AG: p.(Leu346GlyfsTer49) NC_000008.11:144450430:AG: Analogous +NM_000059.4:c.6676G>A NP_000050.3:p.Glu2226Lys NC_000013.11:32341030:G:A p.(Glu2226Lys) NC_000013.11:32341030:G:A p.(Glu2226Lys) NC_000013.11:32341030:G:A Identity +NM_002354.3:c.419G>C NP_002345.2:p.Arg140Thr NC_000002.12:47374041:G:C p.(Arg140Thr) NC_000002.12:47374041:G:C p.(Arg140Thr) NC_000002.12:47374041:G:C Identity +NM_001277115.2:c.7240T>G NP_001264044.1:p.Phe2414Val NC_000007.14:21720829:T:G p.(Phe2414Val) NC_000007.14:21720829:T:G p.(Phe2414Val) NC_000007.14:21720829:T:G Identity +NM_005431.2:c.801del NP_005422.1:p.Lys267fs NC_000007.14:152648683:TTTTTTT:TTTTTT p.(Lys267AsnfsTer30) NC_000007.14:152648683:TTTTTTT:TTTTTT p.(Lys267AsnfsTer30) NC_000007.14:152648683:T: Analogous +NM_003803.4:c.2371G>A NP_003794.3:p.Val791Met NC_000018.10:3134662:C:T p.(Val791Met) NC_000018.10:3134662:C:T p.(Val791Met) NC_000018.10:3134662:C:T Identity +NM_001406618.1:c.1928_1929delinsAA NP_001393547.1:p.Leu643Gln NC_000009.12:132902703:GA:TT p.(Leu643Gln) NC_000009.12:132902703:GA:TT p.(Leu643Gln) NC_000009.12:132902703:GA:TT Identity +NM_000384.3:c.3554A>C NP_000375.3:p.Asp1185Ala NC_000002.12:21015214:T:G p.(Asp1185Ala) NC_000002.12:21015214:T:G p.(Asp1185Ala) NC_000002.12:21015214:T:G Identity +NM_001330347.2:c.784del NP_001317276.1:p.Tyr262fs NC_000011.10:94471634:AAAA:AAA p.(Tyr262IlefsTer19) NC_000011.10:94471634:AAAA:AAA p.(Tyr262IlefsTer19) NC_000011.10:94471634:A: Analogous +NM_000059.4:c.5728_5729dup NP_000050.3:p.Asn1910fs NC_000013.11:32340082:AA:AAAA p.(Asn1910LysfsTer54) NC_000013.11:32340082:AA:AAAA p.(Asn1910LysfsTer54) ERR:SPDI Analogous +NM_001363813.1:c.2007del NP_001350742.1:p.Thr670fs NC_000017.11:65535660:GG:G p.(Thr670HisfsTer47) NC_000017.11:65535660:GG:G p.(Thr670HisfsTer47) NC_000017.11:65535660:G: Analogous +NM_020433.5:c.1924G>A NP_065166.2:p.Ala642Thr NC_000020.11:44115750:C:T p.(Ala642Thr) NC_000020.11:44115750:C:T p.(Ala642Thr) NC_000020.11:44115750:C:T Identity +NM_001352017.2:c.851A>T NP_001338946.1:p.Asn284Ile NC_000016.10:868970:T:A p.(Asn284Ile) NC_000016.10:868970:T:A p.(Asn284Ile) NC_000016.10:868970:T:A Identity +NM_001166108.2:c.163A>G NP_001159580.1:p.Thr55Ala NC_000004.12:168511666:A:G p.(Thr55Ala) NC_000004.12:168511666:A:G p.(Thr55Ala) NC_000004.12:168511666:A:G Identity +NM_001166108.2:c.1024T>C NP_001159580.1:p.Tyr342His NC_000004.12:168668304:T:C p.(Tyr342His) NC_000004.12:168668304:T:C p.(Tyr342His) NC_000004.12:168668304:T:C Identity +NM_001114107.5:c.119C>T NP_001107579.1:p.Ala40Val NC_000004.12:185525145:G:A p.(Ala40Val) NC_000004.12:185525145:G:A p.(Ala40Val) NC_000004.12:185525145:G:A Identity +NM_015627.3:c.362C>T NP_056442.2:p.Ala121Val NC_000001.11:25557169:C:T p.(Ala121Val) NC_000001.11:25557169:C:T p.(Ala121Val) NC_000001.11:25557169:C:T Identity +NM_199420.4:c.7681G>A NP_955452.3:p.Glu2561Lys NC_000003.12:121432395:C:T p.(Glu2561Lys) NC_000003.12:121432395:C:T p.(Glu2561Lys) NC_000003.12:121432395:C:T Identity +NM_001293306.2:c.541G>A NP_001280235.2:p.Glu181Lys NC_000003.12:38771336:C:T p.(Glu181Lys) NC_000003.12:38771336:C:T p.(Glu181Lys) NC_000003.12:38771336:C:T Identity +NM_199420.4:c.1745T>C NP_955452.3:p.Ile582Thr NC_000003.12:121510109:A:G p.(Ile582Thr) NC_000003.12:121510109:A:G p.(Ile582Thr) NC_000003.12:121510109:A:G Identity +NM_199420.4:c.5914A>G NP_955452.3:p.Lys1972Glu NC_000003.12:121483441:T:C p.(Lys1972Glu) NC_000003.12:121483441:T:C p.(Lys1972Glu) NC_000003.12:121483441:T:C Identity +NM_199420.4:c.5800T>G NP_955452.3:p.Ser1934Ala NC_000003.12:121483555:A:C p.(Ser1934Ala) NC_000003.12:121483555:A:C p.(Ser1934Ala) NC_000003.12:121483555:A:C Identity +NM_199420.4:c.4018G>T NP_955452.3:p.Ala1340Ser NC_000003.12:121488912:C:A p.(Ala1340Ser) NC_000003.12:121488912:C:A p.(Ala1340Ser) NC_000003.12:121488912:C:A Identity +NM_199420.4:c.524C>T NP_955452.3:p.Thr175Ile NC_000003.12:121539539:G:A p.(Thr175Ile) NC_000003.12:121539539:G:A p.(Thr175Ile) NC_000003.12:121539539:G:A Identity +NM_199420.4:c.1978G>T NP_955452.3:p.Asp660Tyr NC_000003.12:121498651:C:A p.(Asp660Tyr) NC_000003.12:121498651:C:A p.(Asp660Tyr) NC_000003.12:121498651:C:A Identity +NM_017617.5:c.5903C>T NP_060087.3:p.Ala1968Val NC_000009.12:136500582:G:A p.(Ala1968Val) NC_000009.12:136500582:G:A p.(Ala1968Val) NC_000009.12:136500582:G:A Identity +NM_001297549.2:c.1939G>A NP_001284478.1:p.Asp647Asn NC_000019.10:18856957:G:A p.(Asp647Asn) NC_000019.10:18856957:G:A p.(Asp647Asn) NC_000019.10:18856957:G:A Identity +NM_000156.6:c.391G>C NP_000147.1:p.Gly131Arg NC_000019.10:1399523:C:G p.(Gly131Arg) NC_000019.10:1399523:C:G p.(Gly131Arg) NC_000019.10:1399523:C:G Identity +NM_001042424.3:c.3295GAG[2] NP_001035889.1:p.Glu1101del NC_000004.12:1961073:GAGGAGGAG:GAGGAG p.(Glu1101del) NC_000004.12:1961073:G:GAGGAG ERR:Parse ERR:Parse Identity +NM_001170629.2:c.4867A>G NP_001164100.1:p.Thr1623Ala NC_000014.9:21399655:T:C p.(Thr1623Ala) NC_000014.9:21399655:T:C p.(Thr1623Ala) NC_000014.9:21399655:T:C Identity +NM_001353765.2:c.1512C>G NP_001340694.1:p.Phe504Leu NC_000002.12:29193370:G:C p.(Phe504Leu) NC_000002.12:29193370:G:C p.(Phe504Leu) NC_000002.12:29193370:G:C Identity +NM_198578.4:c.6534G>C NP_940980.4:p.Gln2178His NC_000012.12:40351690:G:C p.(Gln2178His) NC_000012.12:40351690:G:C p.(Gln2178His) NC_000012.12:40351690:G:C Identity +NM_001105206.3:c.5380C>A NP_001098676.2:p.Arg1794Ser NC_000006.12:112109528:G:T p.(Arg1794Ser) NC_000006.12:112109528:G:T p.(Arg1794Ser) NC_000006.12:112109528:G:T Identity +NM_001276289.2:c.613T>G NP_001263218.1:p.Leu205Val NC_000017.11:68525816:T:G p.(Leu205Val) NC_000017.11:68525816:T:G p.(Leu205Val) NC_000017.11:68525816:T:G Identity +NM_006767.4:c.1861T>G NP_006758.2:p.Ser621Ala NC_000022.11:20994944:T:G p.(Ser621Ala) NC_000022.11:20994944:T:G p.(Ser621Ala) NC_000022.11:20994944:T:G Identity +NM_006767.4:c.2413_2414del NP_006758.2:p.Lys805fs NC_000022.11:20997237:AA: p.(Lys805ValfsTer45) NC_000022.11:20997237:AA: p.(Lys805ValfsTer45) NC_000022.11:20997237:AA: Analogous +NM_001142548.2:c.1846T>C NP_001136020.1:p.Cys616Arg NC_000001.11:46274693:T:C p.(Cys616Arg) NC_000001.11:46274693:T:C p.(Cys616Arg) NC_000001.11:46274693:T:C Identity +NM_001082486.2:c.980C>T NP_001075955.2:p.Thr327Ile NC_000016.10:67658211:G:A p.(Thr327Ile) NC_000016.10:67658211:G:A p.(Thr327Ile) NC_000016.10:67658211:G:A Identity +NM_001178133.2:c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA NP_001171604.1:p.Leu300fs NC_000010.11:102597279:A:AAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA p.(Leu300ArgfsTer28) NC_000010.11:102597279:A:AGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA p.(Leu300ArgfsTer28) NC_000010.11:102597280:AC:AGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA Analogous +NM_001347827.2:c.305A>G NP_001334756.1:p.Tyr102Cys NC_000004.12:54261349:A:G p.(Tyr102Cys) NC_000004.12:54261349:A:G p.(Tyr102Cys) NC_000004.12:54261349:A:G Identity +NM_006767.4:c.50C>T NP_006758.2:p.Ala17Val NC_000022.11:20982420:C:T p.(Ala17Val) NC_000022.11:20982420:C:T p.(Ala17Val) NC_000022.11:20982420:C:T Identity +NM_006231.4:c.4575C>G NP_006222.2:p.Ser1525Arg NC_000012.12:132642972:G:C p.(Ser1525Arg) NC_000012.12:132642972:G:C p.(Ser1525Arg) NC_000012.12:132642972:G:C Identity +NM_001365951.3:c.2362C>G NP_001352880.1:p.Gln788Glu NC_000001.11:10323886:C:G p.(Gln788Glu) NC_000001.11:10323886:C:G p.(Gln788Glu) NC_000001.11:10323886:C:G Identity +NM_001007793.3:c.398C>A NP_001007794.1:p.Thr133Asn NC_000010.11:123157860:C:A p.(Thr133Asn) NC_000010.11:123157860:C:A p.(Thr133Asn) NC_000010.11:123157860:C:A Identity +NM_001256849.1:c.409G>C NP_001243778.1:p.Val137Leu NC_000019.10:50401869:G:C p.(Val137Leu) NC_000019.10:50401869:G:C p.(Val137Leu) NC_000019.10:50401869:G:C Identity +NM_017841.4:c.4G>T NP_060311.1:p.Ala2Ser NC_000011.10:61430149:G:T p.(Ala2Ser) NC_000011.10:61430149:G:T p.(Ala2Ser) NC_000011.10:61430149:G:T Identity +NM_001040108.2:c.3122G>C NP_001035197.1:p.Cys1041Ser NC_000014.9:75046533:C:G p.(Cys1041Ser) NC_000014.9:75046533:C:G p.(Cys1041Ser) NC_000014.9:75046533:C:G Identity +NM_199420.4:c.2162C>A NP_955452.3:p.Thr721Asn NC_000003.12:121496923:G:T p.(Thr721Asn) NC_000003.12:121496923:G:T p.(Thr721Asn) NC_000003.12:121496923:G:T Identity +NM_001293306.2:c.1362T>G NP_001280235.2:p.Asn454Lys NC_000003.12:38755886:A:C p.(Asn454Lys) NC_000003.12:38755886:A:C p.(Asn454Lys) NC_000003.12:38755886:A:C Identity +NM_017802.4:c.394C>T NP_060272.3:p.Arg132Cys NC_000007.14:727113:C:T p.(Arg132Cys) NC_000007.14:727113:C:T p.(Arg132Cys) NC_000007.14:727113:C:T Identity +NM_001355531.2:c.384A>G NP_001342460.1:p.Gln128= NC_000007.14:105565422:T:C p.(Gln128=) NC_000007.14:105565422:T:C p.(Gln128=) NC_000007.14:105565422:T:C Identity +NM_001166108.2:c.3032C>T NP_001159580.1:p.Ser1011Leu NC_000004.12:168921714:C:T p.(Ser1011Leu) NC_000004.12:168921714:C:T p.(Ser1011Leu) NC_000004.12:168921714:C:T Identity +NM_001040108.2:c.2780A>G NP_001035197.1:p.His927Arg NC_000014.9:75046875:T:C p.(His927Arg) NC_000014.9:75046875:T:C p.(His927Arg) NC_000014.9:75046875:T:C Identity +NM_001365951.3:c.1834G>T NP_001352880.1:p.Val612Leu NC_000001.11:10296637:G:T p.(Val612Leu) NC_000001.11:10296637:G:T p.(Val612Leu) NC_000001.11:10296637:G:T Identity +NM_020778.5:c.5107G>A NP_065829.4:p.Gly1703Ser NC_000015.10:84868444:G:A p.(Gly1703Ser) NC_000015.10:84868444:G:A p.(Gly1703Ser) NC_000015.10:84868444:G:A Identity +NM_052947.4:c.6337G>C NP_443179.3:p.Asp2113His NC_000018.10:58481998:C:G p.(Asp2113His) NC_000018.10:58481998:C:G p.(Asp2113His) NC_000018.10:58481998:C:G Identity +NM_001282424.3:c.26T>A NP_001269353.2:p.Val9Glu NC_000012.12:8845463:T:A p.(Val9Glu) NC_000012.12:8845463:T:A p.(Val9Glu) NC_000012.12:8845463:T:A Identity +NM_199420.4:c.6740C>A NP_955452.3:p.Pro2247Gln NC_000003.12:121468409:G:T p.(Pro2247Gln) NC_000003.12:121468409:G:T p.(Pro2247Gln) NC_000003.12:121468409:G:T Identity +NM_005751.5:c.4603C>T NP_005742.4:p.Pro1535Ser NC_000007.14:92038682:C:T p.(Pro1535Ser) NC_000007.14:92038682:C:T p.(Pro1535Ser) NC_000007.14:92038682:C:T Identity +NM_001081640.2:c.7830G>T NP_001075109.1:p.Gln2610His NC_000008.11:47836458:C:A p.(Gln2610His) NC_000008.11:47836458:C:A p.(Gln2610His) NC_000008.11:47836458:C:A Identity +NM_032043.3:c.1699A>C NP_114432.2:p.Lys567Gln NC_000017.11:61780934:T:G p.(Lys567Gln) NC_000017.11:61780934:T:G p.(Lys567Gln) NC_000017.11:61780934:T:G Identity +NM_199420.4:c.403G>A NP_955452.3:p.Glu135Lys NC_000003.12:121541419:C:T p.(Glu135Lys) NC_000003.12:121541419:C:T p.(Glu135Lys) NC_000003.12:121541419:C:T Identity +NM_001367624.2:c.8774C>A NP_001354553.1:p.Pro2925Gln NC_000016.10:88436243:C:A p.(Pro2925Gln) NC_000016.10:88436243:C:A p.(Pro2925Gln) NC_000016.10:88436243:C:A Identity +NM_001081640.2:c.4385G>A NP_001075109.1:p.Gly1462Glu NC_000008.11:47888545:C:T p.(Gly1462Glu) NC_000008.11:47888545:C:T p.(Gly1462Glu) NC_000008.11:47888545:C:T Identity +NM_000179.3:c.3902dup NP_000170.1:p.Asn1301fs NC_000002.12:47806550:AA:AAA p.(Asn1301LysfsTer7) NC_000002.12:47806550:AA:AAA p.(Asn1301LysfsTer7) ERR:SPDI Analogous +NM_001081640.2:c.12259G>C NP_001075109.1:p.Gly4087Arg NC_000008.11:47774207:C:G p.(Gly4087Arg) NC_000008.11:47774207:C:G p.(Gly4087Arg) NC_000008.11:47774207:C:G Identity +NM_001184.4:c.1750G>A NP_001175.2:p.Asp584Asn NC_000003.12:142558758:C:T p.(Asp584Asn) NC_000003.12:142558758:C:T p.(Asp584Asn) NC_000003.12:142558758:C:T Identity +NM_000492.4:c.1577T>C NP_000483.3:p.Leu526Pro NC_000007.14:117559647:T:C p.(Leu526Pro) NC_000007.14:117559647:T:C p.(Leu526Pro) NC_000007.14:117559647:T:C Identity +NM_001321307.1:c.2654C>A NP_001308236.1:p.Ser885Tyr NC_000011.10:108172329:G:T p.(Ser885Tyr) NC_000011.10:108172329:G:T p.(Ser885Tyr) NC_000011.10:108172329:G:T Identity +NM_001377260.1:c.254C>G NP_001364189.1:p.Pro85Arg NC_000001.11:231421634:G:C p.(Pro85Arg) NC_000001.11:231421634:G:C p.(Pro85Arg) NC_000001.11:231421634:G:C Identity +NM_001410772.1:c.212T>G NP_001397701.1:p.Val71Gly NC_000003.12:52408516:A:C p.(Val71Gly) NC_000003.12:52408516:A:C p.(Val71Gly) NC_000003.12:52408516:A:C Identity +NM_001148.6:c.6311G>A NP_001139.3:p.Ser2104Asn NC_000004.12:113354928:G:A p.(Ser2104Asn) NC_000004.12:113354928:G:A p.(Ser2104Asn) NC_000004.12:113354928:G:A Identity +NM_004064.5:c.470C>A NP_004055.1:p.Thr157Asn NC_000012.12:12718308:C:A p.(Thr157Asn) NC_000012.12:12718308:C:A p.(Thr157Asn) NC_000012.12:12718308:C:A Identity +NM_002439.5:c.530C>G NP_002430.3:p.Ala177Gly NC_000005.10:80665313:C:G p.(Ala177Gly) NC_000005.10:80665313:C:G p.(Ala177Gly) NC_000005.10:80665313:C:G Identity +NM_000051.4:c.4691del NP_000042.3:p.Pro1564fs NC_000011.10:108293390:CC:C p.(Pro1564LeufsTer37) NC_000011.10:108293390:CC:C p.(Pro1564LeufsTer37) NC_000011.10:108293391:C: Analogous +NM_001035.3:c.10040dup NP_001026.2:p.Asp3347fs NC_000001.11:237708995:A:AA p.(Asp3347GlufsTer12) NC_000001.11:237708995:A:AA p.(Asp3347GlufsTer12) ERR:SPDI Analogous +NM_000323.2:c.1874T>C NP_000314.1:p.Ile625Thr NC_000010.11:43113669:T:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001278616.2:c.350A>G NP_001265545.1:p.Gln117Arg NC_000002.12:110672672:T:C p.(Gln117Arg) NC_000002.12:110672672:T:C p.(Gln117Arg) NC_000002.12:110672672:T:C Identity +NM_000384.3:c.7376T>A NP_000375.3:p.Leu2459Gln NC_000002.12:21009491:A:T p.(Leu2459Gln) NC_000002.12:21009491:A:T p.(Leu2459Gln) NC_000002.12:21009491:A:T Identity +NM_000059.4:c.3493del NP_000050.3:p.His1165fs NC_000013.11:32337847:C: p.(His1165MetfsTer3) NC_000013.11:32337847:C: p.(His1165MetfsTer3) NC_000013.11:32337847:C: Analogous +NM_199420.4:c.1204G>C NP_955452.3:p.Asp402His NC_000003.12:121522053:C:G p.(Asp402His) NC_000003.12:121522053:C:G p.(Asp402His) NC_000003.12:121522053:C:G Identity +NM_199420.4:c.778C>A NP_955452.3:p.Gln260Lys NC_000003.12:121533171:G:T p.(Gln260Lys) NC_000003.12:121533171:G:T p.(Gln260Lys) NC_000003.12:121533171:G:T Identity +NM_001407240.1:c.515T>C NP_001394169.1:p.Leu172Pro NC_000001.11:55044026:T:C p.(Leu172Pro) NC_000001.11:55044026:T:C p.(Leu172Pro) NC_000001.11:55044026:T:C Identity +NM_005209.1:c.238G>A NP_005200.1:p.Ala80Thr NC_000002.12:218992166:C:T ERR:Data provider error: ValueError: Transcript NM_005209.1 not found ERR:Data provider error: ValueError: Transcript NM_005209.1 not found ERR:AlignmentMapper(tx_ac=NM_005209.1, alt_ac=NM_005209.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_005209.1, alt_ac=NM_005209.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_005209.1 not found +NM_024045.2:c.55G>A NP_076950.1:p.Glu19Lys NC_000010.11:68901438:G:A p.(Glu19Lys) NC_000010.11:68901438:G:A p.(Glu19Lys) NC_000010.11:68901438:G:A Identity +NM_001316996.2:c.73G>C NP_001303925.1:p.Glu25Gln NC_000019.10:22073506:G:C p.(Glu25Gln) NC_000019.10:22073506:G:C p.(Glu25Gln) NC_000019.10:22073506:G:C Identity +NM_001279.4:c.293A>G NP_001270.1:p.His98Arg NC_000018.10:12264415:A:G p.(His98Arg) NC_000018.10:12264415:A:G p.(His98Arg) NC_000018.10:12264415:A:G Identity +NM_130468.4:c.95C>T NP_569735.1:p.Ala32Val NC_000015.10:40471307:C:T p.(Ala32Val) NC_000015.10:40471307:C:T p.(Ala32Val) NC_000015.10:40471307:C:T Identity +NM_001282948.2:c.4286A>G NP_001269877.1:p.Asp1429Gly NC_000010.11:63206836:T:C p.(Asp1429Gly) NC_000010.11:63206836:T:C p.(Asp1429Gly) NC_000010.11:63206836:T:C Identity +NM_001319952.2:c.1220C>A NP_001306881.1:p.Thr407Asn NC_000001.11:109752019:G:T p.(Thr407Asn) NC_000001.11:109752019:G:T p.(Thr407Asn) NC_000001.11:109752019:G:T Identity +NM_052947.4:c.2735C>G NP_443179.3:p.Ala912Gly NC_000018.10:58537451:G:C p.(Ala912Gly) NC_000018.10:58537451:G:C p.(Ala912Gly) NC_000018.10:58537451:G:C Identity +NM_001134363.3:c.3485A>G NP_001127835.2:p.Tyr1162Cys NC_000010.11:110831093:A:G p.(Tyr1162Cys) NC_000010.11:110831093:A:G p.(Tyr1162Cys) NC_000010.11:110831093:A:G Identity +NM_016599.5:c.124A>T NP_057683.1:p.Ile42Phe NC_000004.12:119150918:A:T p.(Ile42Phe) NC_000004.12:119150918:A:T p.(Ile42Phe) NC_000004.12:119150918:A:T Identity +NM_001407041.1:c.250G>T NP_001393970.1:p.Val84Leu NC_000018.10:51048685:G:T p.(Val84Leu) NC_000018.10:51048685:G:T p.(Val84Leu) NC_000018.10:51048685:G:T Identity +NM_000057.4:c.3055C>T NP_000048.1:p.His1019Tyr NC_000015.10:90794201:C:T p.(His1019Tyr) NC_000015.10:90794201:C:T p.(His1019Tyr) NC_000015.10:90794201:C:T Identity +NM_001376857.1:c.873C>G NP_001363786.1:p.His291Gln NC_000001.11:32190158:C:G p.(His291Gln) NC_000001.11:32190158:C:G p.(His291Gln) NC_000001.11:32190158:C:G Identity +NM_001291088.2:c.2117T>G NP_001278017.1:p.Phe706Cys NC_000019.10:37893585:A:C p.(Phe706Cys) NC_000019.10:37893585:A:C p.(Phe706Cys) NC_000019.10:37893585:A:C Identity +NM_000214.3:c.2300C>A NP_000205.1:p.Thr767Lys NC_000020.11:10644906:G:T p.(Thr767Lys) NC_000020.11:10644906:G:T p.(Thr767Lys) NC_000020.11:10644906:G:T Identity +NM_001301772.2:c.151A>T NP_001288701.1:p.Thr51Ser NC_000008.11:143213919:A:T p.(Thr51Ser) NC_000008.11:143213919:A:T p.(Thr51Ser) NC_000008.11:143213919:A:T Identity +NM_004281.4:c.223del NP_004272.2:p.Arg75fs NC_000010.11:119669892:A: p.(Arg75GlyfsTer136) NC_000010.11:119669892:A: p.(Arg75GlyfsTer136) NC_000010.11:119669892:A: Analogous +NM_198578.4:c.3753T>A NP_940980.4:p.His1251Gln NC_000012.12:40304109:T:A p.(His1251Gln) NC_000012.12:40304109:T:A p.(His1251Gln) NC_000012.12:40304109:T:A Identity +NM_198578.4:c.7249C>T NP_940980.4:p.Leu2417Phe NC_000012.12:40364908:C:T p.(Leu2417Phe) NC_000012.12:40364908:C:T p.(Leu2417Phe) NC_000012.12:40364908:C:T Identity +NM_001146162.1:c.247T>G NP_001139634.1:p.Cys83Gly NC_000011.10:89710544:T:G p.(Cys83Gly) NC_000011.10:89710544:T:G p.(Cys83Gly) NC_000011.10:89710544:T:G Identity +NM_001005514.2:c.500C>A NP_001005514.1:p.Thr167Asn NC_000003.12:98149884:C:A p.(Thr167Asn) NC_000003.12:98149884:C:A p.(Thr167Asn) NC_000003.12:98149884:C:A Identity +NM_006942.2:c.569G>C NP_008873.1:p.Cys190Ser NC_000017.11:7588510:C:G p.(Cys190Ser) NC_000017.11:7588510:C:G p.(Cys190Ser) NC_000017.11:7588510:C:G Identity +NM_001407296.1:c.220G>T NP_001394225.1:p.Glu74Ter NC_000016.10:23636265:C:A p.(Glu74Ter) NC_000016.10:23636265:C:A p.(Glu74Ter) NC_000016.10:23636265:C:A Identity +NM_001048171.2:c.1465_1475del NP_001041636.2:p.Cys489fs NC_000001.11:45329396:TTCCGACTGCA: p.(Cys489LysfsTer11) NC_000001.11:45329396:TTCCGACTGCA: p.(Cys489LysfsTer11) NC_000001.11:45329396:TTCCGACTGCA: Analogous +NM_000245.4:c.1412G>C NP_000236.2:p.Gly471Ala NC_000007.14:116739968:G:C p.(Gly471Ala) NC_000007.14:116739968:G:C p.(Gly471Ala) NC_000007.14:116739968:G:C Identity +NM_001184.4:c.2582G>T NP_001175.2:p.Arg861Ile NC_000003.12:142553690:C:A p.(Arg861Ile) NC_000003.12:142553690:C:A p.(Arg861Ile) NC_000003.12:142553690:C:A Identity +NM_000138.5:c.74C>T NP_000129.3:p.Ala25Val NC_000015.10:48644695:G:A p.(Ala25Val) NC_000015.10:48644695:G:A p.(Ala25Val) NC_000015.10:48644695:G:A Identity +NM_001382394.1:c.628A>G NP_001369323.1:p.Arg210Gly NC_000002.12:39054684:T:C p.(Arg210Gly) NC_000002.12:39054684:T:C p.(Arg210Gly) NC_000002.12:39054684:T:C Identity +NM_001367624.2:c.155G>A NP_001354553.1:p.Gly52Asp NC_000016.10:88427624:G:A p.(Gly52Asp) NC_000016.10:88427624:G:A p.(Gly52Asp) NC_000016.10:88427624:G:A Identity +NM_001005242.3:c.823G>A NP_001005242.2:p.Val275Met NC_000012.12:32878056:C:T p.(Val275Met) NC_000012.12:32878056:C:T p.(Val275Met) NC_000012.12:32878056:C:T Identity +NM_001379277.1:c.1820T>G NP_001366206.1:p.Ile607Arg NC_000007.14:92079307:T:G p.(Ile607Arg) NC_000007.14:92079307:T:G p.(Ile607Arg) NC_000007.14:92079307:T:G Identity +NM_001081640.2:c.719A>G NP_001075109.1:p.Glu240Gly NC_000008.11:47953621:T:C p.(Glu240Gly) NC_000008.11:47953621:T:C p.(Glu240Gly) NC_000008.11:47953621:T:C Identity +NM_001406679.1:c.2998G>C NP_001393608.1:p.Glu1000Gln NC_000016.10:2079420:G:C p.(Glu1000Gln) NC_000016.10:2079420:G:C p.(Glu1000Gln) NC_000016.10:2079420:G:C Identity +NM_001098623.2:c.9710C>T NP_001092093.2:p.Ala3237Val NC_000001.11:228287858:C:T p.(Ala3237Val) NC_000001.11:228287858:C:T p.(Ala3237Val) NC_000001.11:228287858:C:T Identity +NM_000244.4:c.1538A>C NP_000235.3:p.Gln513Pro NC_000011.10:64804643:T:G p.(Gln513Pro) NC_000011.10:64804643:T:G p.(Gln513Pro) NC_000011.10:64804643:T:G Identity +NM_000465.4:c.892G>A NP_000456.2:p.Val298Met NC_000002.12:214780981:C:T p.(Val298Met) NC_000002.12:214780981:C:T p.(Val298Met) NC_000002.12:214780981:C:T Identity +NM_000321.3:c.1409T>G NP_000312.2:p.Ile470Ser NC_000013.11:48380071:T:G p.(Ile470Ser) NC_000013.11:48380071:T:G p.(Ile470Ser) NC_000013.11:48380071:T:G Identity +NM_024529.5:c.1506C>G NP_078805.3:p.His502Gln NC_000001.11:193249817:C:G p.(His502Gln) NC_000001.11:193249817:C:G p.(His502Gln) NC_000001.11:193249817:C:G Identity +NM_001127487.2:c.2533G>C NP_001120959.1:p.Val845Leu NC_000007.14:128842936:G:C p.(Val845Leu) NC_000007.14:128842936:G:C p.(Val845Leu) NC_000007.14:128842936:G:C Identity +NM_001127487.2:c.1081C>G NP_001120959.1:p.Arg361Gly NC_000007.14:128838299:C:G p.(Arg361Gly) NC_000007.14:128838299:C:G p.(Arg361Gly) NC_000007.14:128838299:C:G Identity +NM_001127487.2:c.2140A>G NP_001120959.1:p.Ile714Val NC_000007.14:128842248:A:G p.(Ile714Val) NC_000007.14:128842248:A:G p.(Ile714Val) NC_000007.14:128842248:A:G Identity +NM_052947.4:c.263C>T NP_443179.3:p.Ser88Leu NC_000018.10:58580512:G:A p.(Ser88Leu) NC_000018.10:58580512:G:A p.(Ser88Leu) NC_000018.10:58580512:G:A Identity +NM_001198759.1:c.314T>C NP_001185688.1:p.Met105Thr NC_000002.12:159898839:A:G p.(Met105Thr) NC_000002.12:159898839:A:G p.(Met105Thr) NC_000002.12:159898839:A:G Identity +NM_001033026.2:c.596C>T NP_001028198.1:p.Thr199Met NC_000019.10:1013251:G:A p.(Thr199Met) NC_000019.10:1013251:G:A p.(Thr199Met) NC_000019.10:1013251:G:A Identity +NM_001004469.1:c.330T>A NP_001004469.1:p.Asn110Lys NC_000001.11:159535677:A:T p.(Asn110Lys) NC_000001.11:159535677:A:T p.(Asn110Lys) NC_000001.11:159535677:A:T Identity +NM_000384.3:c.13663G>T NP_000375.3:p.Ala4555Ser NC_000002.12:21001758:C:A p.(Ala4555Ser) NC_000002.12:21001758:C:A p.(Ala4555Ser) NC_000002.12:21001758:C:A Identity +NM_001330347.2:c.1064C>G NP_001317276.1:p.Ser355Cys NC_000011.10:94467846:G:C p.(Ser355Cys) NC_000011.10:94467846:G:C p.(Ser355Cys) NC_000011.10:94467846:G:C Identity +NM_000077.5:c.280C>T NP_000068.1:p.Leu94= NC_000009.12:21971078:G:A p.(Leu94=) NC_000009.12:21971078:G:A p.(Leu94=) NC_000009.12:21971078:G:A Identity +NM_001081640.2:c.7028A>C NP_001075109.1:p.Glu2343Ala NC_000008.11:47849480:T:G p.(Glu2343Ala) NC_000008.11:47849480:T:G p.(Glu2343Ala) NC_000008.11:47849480:T:G Identity +NM_001098623.2:c.4600T>G NP_001092093.2:p.Phe1534Val NC_000001.11:228264129:T:G p.(Phe1534Val) NC_000001.11:228264129:T:G p.(Phe1534Val) NC_000001.11:228264129:T:G Identity +NM_005120.3:c.3827A>G NP_005111.2:p.Asp1276Gly NC_000023.11:71129814:A:G p.(Asp1276Gly) NC_000023.11:71129814:A:G p.(Asp1276Gly) NC_000023.11:71129814:A:G Identity +NM_005120.3:c.5332A>G NP_005111.2:p.Ser1778Gly NC_000023.11:71136586:A:G p.(Ser1778Gly) NC_000023.11:71136586:A:G p.(Ser1778Gly) NC_000023.11:71136586:A:G Identity +NM_001347827.2:c.157A>G NP_001334756.1:p.Ser53Gly NC_000004.12:54261201:A:G p.(Ser53Gly) NC_000004.12:54261201:A:G p.(Ser53Gly) NC_000004.12:54261201:A:G Identity +NM_002890.3:c.344C>T NP_002881.1:p.Ala115Val NC_000005.10:87268794:C:T p.(Ala115Val) NC_000005.10:87268794:C:T p.(Ala115Val) NC_000005.10:87268794:C:T Identity +NM_005502.4:c.4829A>G NP_005493.2:p.Asn1610Ser NC_000009.12:104799932:T:C p.(Asn1610Ser) NC_000009.12:104799932:T:C p.(Asn1610Ser) NC_000009.12:104799932:T:C Identity +NM_005502.4:c.877A>G NP_005493.2:p.Ser293Gly NC_000009.12:104840455:T:C p.(Ser293Gly) NC_000009.12:104840455:T:C p.(Ser293Gly) NC_000009.12:104840455:T:C Identity +NM_021165.4:c.400G>T NP_066988.1:p.Val134Phe NC_000001.11:177256048:G:T p.(Val134Phe) NC_000001.11:177256048:G:T p.(Val134Phe) NC_000001.11:177256048:G:T Identity +NM_001122779.2:c.333T>G NP_001116251.1:p.Phe111Leu NC_000002.12:224401435:A:C p.(Phe111Leu) NC_000002.12:224401435:A:C p.(Phe111Leu) NC_000002.12:224401435:A:C Identity +NM_001195573.1:c.4570G>A NP_001182502.1:p.Val1524Met NC_000014.9:95096349:C:T p.(Val1524Met) NC_000014.9:95096349:C:T p.(Val1524Met) NC_000014.9:95096349:C:T Identity +NM_001256850.1:c.82911_82914del NP_001243779.1:p.Asp27637fs NC_000002.12:178557424:TCTGTCT:TCT p.(Asp27637GlufsTer122) NC_000002.12:178557424:TCTGTCT:TCT p.(Asp27637GlufsTer122) NC_000002.12:178557424:TCTG: Analogous +NM_001256850.1:c.36279del NP_001243779.1:p.Phe12093fs NC_000002.12:178636524:AAA:AA p.(Phe12093LeufsTer42) NC_000002.12:178636524:AAA:AA p.(Phe12093LeufsTer42) NC_000002.12:178636524:A: Analogous +NM_000551.4:c.200A>G NP_000542.1:p.Asn67Ser NC_000003.12:10142046:A:G p.(Asn67Ser) NC_000003.12:10142046:A:G p.(Asn67Ser) NC_000003.12:10142046:A:G Identity +NM_001407430.1:c.1231G>A NP_001394359.1:p.Ala411Thr NC_000009.12:99149230:G:A p.(Ala411Thr) NC_000009.12:99149230:G:A p.(Ala411Thr) NC_000009.12:99149230:G:A Identity +NM_004304.5:c.2624G>T NP_004295.2:p.Gly875Val NC_000002.12:29232311:C:A p.(Gly875Val) NC_000002.12:29232311:C:A p.(Gly875Val) NC_000002.12:29232311:C:A Identity +NM_000400.4:c.1226C>T NP_000391.1:p.Thr409Ile NC_000019.10:45361534:G:A p.(Thr409Ile) NC_000019.10:45361534:G:A p.(Thr409Ile) NC_000019.10:45361534:G:A Identity +NM_001407011.1:c.5C>G NP_001393940.1:p.Ser2Trp NC_000015.10:67066158:C:G p.(Ser2Trp) NC_000015.10:67066158:C:G p.(Ser2Trp) NC_000015.10:67066158:C:G Identity +NM_001145103.2:c.182C>T NP_001138575.1:p.Ala61Val NC_000015.10:67165001:C:T p.(Ala61Val) NC_000015.10:67165001:C:T p.(Ala61Val) NC_000015.10:67165001:C:T Identity +NM_000057.4:c.323T>C NP_000048.1:p.Leu108Ser NC_000015.10:90749590:T:C p.(Leu108Ser) NC_000015.10:90749590:T:C p.(Leu108Ser) NC_000015.10:90749590:T:C Identity +NM_000335.5:c.943C>G NP_000326.2:p.Leu315Val NC_000003.12:38608205:G:C p.(Leu315Val) NC_000003.12:38608205:G:C p.(Leu315Val) NC_000003.12:38608205:G:C Identity +NM_001282386.1:c.65T>C NP_001269315.1:p.Ile22Thr NC_000002.12:208251486:A:G p.(Ile22Thr) NC_000002.12:208251486:A:G p.(Ile22Thr) NC_000002.12:208251486:A:G Identity +NM_006767.4:c.1639A>G NP_006758.2:p.Ile547Val NC_000022.11:20994580:A:G p.(Ile547Val) NC_000022.11:20994580:A:G p.(Ile547Val) NC_000022.11:20994580:A:G Identity +NM_001407296.1:c.2761del NP_001394225.1:p.Ile921fs NC_000016.10:23624021:TTT:TT p.(Ile921SerfsTer21) NC_000016.10:23624021:TTT:TT p.(Ile921SerfsTer21) NC_000016.10:23624021:T: Analogous +NM_000245.4:c.341A>G NP_000236.2:p.Asp114Gly NC_000007.14:116699424:A:G p.(Asp114Gly) NC_000007.14:116699424:A:G p.(Asp114Gly) NC_000007.14:116699424:A:G Identity +NM_001184.4:c.2147G>A NP_001175.2:p.Cys716Tyr NC_000003.12:142556070:C:T p.(Cys716Tyr) NC_000003.12:142556070:C:T p.(Cys716Tyr) NC_000003.12:142556070:C:T Identity +NM_000492.4:c.2636T>C NP_000483.3:p.Val879Ala NC_000007.14:117602841:T:C p.(Val879Ala) NC_000007.14:117602841:T:C p.(Val879Ala) NC_000007.14:117602841:T:C Identity +NM_001347827.2:c.287G>C NP_001334756.1:p.Gly96Ala NC_000004.12:54261331:G:C p.(Gly96Ala) NC_000004.12:54261331:G:C p.(Gly96Ala) NC_000004.12:54261331:G:C Identity +NM_001320415.2:c.265A>G NP_001307344.1:p.Arg89Gly NC_000014.9:65076504:T:C p.(Arg89Gly) NC_000014.9:65076504:T:C p.(Arg89Gly) NC_000014.9:65076504:T:C Identity +NM_000527.5:c.2086T>A NP_000518.1:p.Cys696Ser NC_000019.10:11120467:T:A p.(Cys696Ser) NC_000019.10:11120467:T:A p.(Cys696Ser) NC_000019.10:11120467:T:A Identity +NM_001035.3:c.7922C>T NP_001026.2:p.Ser2641Leu NC_000001.11:237654370:C:T p.(Ser2641Leu) NC_000001.11:237654370:C:T p.(Ser2641Leu) NC_000001.11:237654370:C:T Identity +NM_001035.3:c.8893A>G NP_001026.2:p.Lys2965Glu NC_000001.11:237678109:A:G p.(Lys2965Glu) NC_000001.11:237678109:A:G p.(Lys2965Glu) NC_000001.11:237678109:A:G Identity +NM_001322284.2:c.1430G>A NP_001309213.1:p.Arg477Gln NC_000019.10:52034248:C:T p.(Arg477Gln) NC_000019.10:52034248:C:T p.(Arg477Gln) NC_000019.10:52034248:C:T Identity +NM_001320289.2:c.1382T>C NP_001307218.1:p.Ile461Thr NC_000001.11:47050028:T:C p.(Ile461Thr) NC_000001.11:47050028:T:C p.(Ile461Thr) NC_000001.11:47050028:T:C Identity +NM_001005274.1:c.713G>T NP_001005274.1:p.Cys238Phe NC_000011.10:55343912:G:T p.(Cys238Phe) NC_000011.10:55343912:G:T p.(Cys238Phe) NC_000011.10:55343912:G:T Identity +NM_001178137.2:c.1360G>A NP_001171608.1:p.Val454Ile NC_000010.11:92143079:C:T p.(Val454Ile) NC_000010.11:92143079:C:T p.(Val454Ile) NC_000010.11:92143079:C:T Identity +NM_001480.4:c.203G>C NP_001471.2:p.Ser68Thr NC_000018.10:77250750:G:C p.(Ser68Thr) NC_000018.10:77250750:G:C p.(Ser68Thr) NC_000018.10:77250750:G:C Identity +NM_001004692.2:c.158T>C NP_001004692.1:p.Leu53Pro NC_000001.11:248295420:A:G p.(Leu53Pro) NC_000001.11:248295420:A:G p.(Leu53Pro) NC_000001.11:248295420:A:G Identity +NM_198582.4:c.1634G>A NP_940984.3:p.Arg545His NC_000002.12:238150961:G:A p.(Arg545His) NC_000002.12:238150961:G:A p.(Arg545His) NC_000002.12:238150961:G:A Identity +NM_006767.4:c.2080G>A NP_006758.2:p.Ala694Thr NC_000022.11:20995972:G:A p.(Ala694Thr) NC_000022.11:20995972:G:A p.(Ala694Thr) NC_000022.11:20995972:G:A Identity +NM_005963.4:c.66G>C NP_005954.3:p.Arg22Ser NC_000017.11:10516576:C:G p.(Arg22Ser) NC_000017.11:10516576:C:G p.(Arg22Ser) NC_000017.11:10516576:C:G Identity +NM_001253357.2:c.1597G>A NP_001240286.1:p.Asp533Asn NC_000001.11:43312405:G:A p.(Asp533Asn) NC_000001.11:43312405:G:A p.(Asp533Asn) NC_000001.11:43312405:G:A Identity +NM_152551.4:c.752A>T NP_689764.3:p.Glu251Val NC_000006.12:7605431:A:T p.(Glu251Val) NC_000006.12:7605431:A:T p.(Glu251Val) NC_000006.12:7605431:A:T Identity +NM_001376227.1:c.1709C>G NP_001363156.1:p.Thr570Ser NC_000017.11:42117089:G:C p.(Thr570Ser) NC_000017.11:42117089:G:C p.(Thr570Ser) NC_000017.11:42117089:G:C Identity +NM_001085377.2:c.893A>T NP_001078846.2:p.Asp298Val NC_000005.10:113122817:T:A p.(Asp298Val) NC_000005.10:113122817:T:A p.(Asp298Val) NC_000005.10:113122817:T:A Identity +NM_001256067.2:c.904G>A NP_001242996.1:p.Ala302Thr NC_000009.12:137433257:G:A p.(Ala302Thr) NC_000009.12:137433257:G:A p.(Ala302Thr) NC_000009.12:137433257:G:A Identity +NM_001271629.2:c.967C>T NP_001258558.1:p.Pro323Ser NC_000001.11:156475125:G:A p.(Pro323Ser) NC_000001.11:156475125:G:A p.(Pro323Ser) NC_000001.11:156475125:G:A Identity +NM_001242795.2:c.355C>G NP_001229724.1:p.Leu119Val NC_000016.10:56823775:C:G p.(Leu119Val) NC_000016.10:56823775:C:G p.(Leu119Val) NC_000016.10:56823775:C:G Identity +NM_001035534.3:c.2011C>T NP_001030611.1:p.Pro671Ser NC_000009.12:127507035:G:A p.(Pro671Ser) NC_000009.12:127507035:G:A p.(Pro671Ser) NC_000009.12:127507035:G:A Identity +NM_001080478.3:c.985C>T NP_001073947.1:p.His329Tyr NC_000005.10:194792:C:T p.(His329Tyr) NC_000005.10:194792:C:T p.(His329Tyr) NC_000005.10:194792:C:T Identity +NM_001407659.1:c.4447C>G NP_001394588.1:p.His1483Asp NC_000017.11:43074474:G:C p.(His1483Asp) NC_000017.11:43074474:G:C p.(His1483Asp) NC_000017.11:43074474:G:C Identity +NM_001127487.2:c.1556C>G NP_001120959.1:p.Thr519Arg NC_000007.14:128840553:C:G p.(Thr519Arg) NC_000007.14:128840553:C:G p.(Thr519Arg) NC_000007.14:128840553:C:G Identity +NM_001377260.1:c.251C>T NP_001364189.1:p.Pro84Leu NC_000001.11:231421637:G:A p.(Pro84Leu) NC_000001.11:231421637:G:A p.(Pro84Leu) NC_000001.11:231421637:G:A Identity +NM_002439.5:c.3001G>T NP_002430.3:p.Val1001Leu NC_000005.10:80864812:G:T p.(Val1001Leu) NC_000005.10:80864812:G:T p.(Val1001Leu) NC_000005.10:80864812:G:T Identity +NM_001365276.2:c.8825C>T NP_001352205.1:p.Pro2942Leu NC_000006.12:32052959:G:A p.(Pro2942Leu) NC_000006.12:32052959:G:A p.(Pro2942Leu) NC_000006.12:32052959:G:A Identity +NM_000059.4:c.6893A>C NP_000050.3:p.Glu2298Ala NC_000013.11:32344608:A:C p.(Glu2298Ala) NC_000013.11:32344608:A:C p.(Glu2298Ala) NC_000013.11:32344608:A:C Identity +NM_000059.4:c.2813del NP_000050.3:p.Ala938fs NC_000013.11:32337167:C: p.(Ala938GlufsTer22) NC_000013.11:32337167:C: p.(Ala938GlufsTer22) NC_000013.11:32337167:C: Analogous +NM_182572.4:c.357G>A NP_872378.3:p.Met119Ile NC_000019.10:58038192:G:A p.(Met119Ile) NC_000019.10:58038192:G:A p.(Met119Ile) NC_000019.10:58038192:G:A Identity +NM_001030287.4:c.160C>T NP_001025458.1:p.Leu54Phe NC_000001.11:212615180:C:T p.(Leu54Phe) NC_000001.11:212615180:C:T p.(Leu54Phe) NC_000001.11:212615180:C:T Identity +NM_181621.4:c.92C>T NP_853652.1:p.Pro31Leu NC_000021.9:30372121:G:A p.(Pro31Leu) NC_000021.9:30372121:G:A p.(Pro31Leu) NC_000021.9:30372121:G:A Identity +NM_001042483.2:c.274G>A NP_001035948.1:p.Glu92Lys NC_000016.10:28538047:C:T p.(Glu92Lys) NC_000016.10:28538047:C:T p.(Glu92Lys) NC_000016.10:28538047:C:T Identity +NM_001300951.2:c.3413C>T NP_001287880.1:p.Ala1138Val NC_000019.10:23359469:G:A p.(Ala1138Val) NC_000019.10:23359469:G:A p.(Ala1138Val) NC_000019.10:23359469:G:A Identity +NM_001363813.1:c.1823_1830dup NP_001350742.1:p.Ala611fs NC_000017.11:65536435:ACGGGGGG:ACGGGGGGACGGGGGG p.(Ala611ProfsTer16) NC_000017.11:65536435:ACGGGGGG:ACGGGGGGACGGGGGG p.(Ala611ProfsTer16) ERR:SPDI Analogous +NM_024642.5:c.1420G>C NP_078918.3:p.Val474Leu NC_000009.12:98844170:G:C p.(Val474Leu) NC_000009.12:98844170:G:C p.(Val474Leu) NC_000009.12:98844170:G:C Identity +NM_001352020.1:c.242A>G NP_001338949.1:p.Asp81Gly NC_000016.10:954617:T:C p.(Asp81Gly) NC_000016.10:954617:T:C p.(Asp81Gly) NC_000016.10:954617:T:C Identity +NM_130468.4:c.352G>A NP_569735.1:p.Gly118Arg NC_000015.10:40471564:G:A p.(Gly118Arg) NC_000015.10:40471564:G:A p.(Gly118Arg) NC_000015.10:40471564:G:A Identity +NM_001145102.2:c.429C>G NP_001138574.1:p.Phe143Leu NC_000015.10:67181325:C:G p.(Phe143Leu) NC_000015.10:67181325:C:G p.(Phe143Leu) NC_000015.10:67181325:C:G Identity +NM_000057.4:c.2617A>C NP_000048.1:p.Lys873Gln NC_000015.10:90782882:A:C p.(Lys873Gln) NC_000015.10:90782882:A:C p.(Lys873Gln) NC_000015.10:90782882:A:C Identity +NM_001003652.4:c.530C>A NP_001003652.1:p.Pro177Gln NC_000018.10:47868447:G:T p.(Pro177Gln) NC_000018.10:47868447:G:T p.(Pro177Gln) NC_000018.10:47868447:G:T Identity +NM_000038.6:c.7699A>T NP_000029.2:p.Thr2567Ser NC_000005.10:112843292:A:T p.(Thr2567Ser) NC_000005.10:112843292:A:T p.(Thr2567Ser) NC_000005.10:112843292:A:T Identity +NM_000179.3:c.1372dup NP_000170.1:p.His458fs NC_000002.12:47799352:CCC:CCCC p.(His458ProfsTer6) NC_000002.12:47799352:CCC:CCCC p.(His458ProfsTer6) ERR:SPDI Analogous +NM_001081640.2:c.11488G>T NP_001075109.1:p.Gly3830Cys NC_000008.11:47778797:C:A p.(Gly3830Cys) NC_000008.11:47778797:C:A p.(Gly3830Cys) NC_000008.11:47778797:C:A Identity +NM_001277223.2:c.255G>A NP_001264152.1:p.Met85Ile NC_000001.11:159919760:C:T p.(Met85Ile) NC_000001.11:159919760:C:T p.(Met85Ile) NC_000001.11:159919760:C:T Identity +NM_005462.5:c.1057A>C NP_005453.2:p.Ile353Leu NC_000023.11:141906460:A:C p.(Ile353Leu) NC_000023.11:141906460:A:C p.(Ile353Leu) NC_000023.11:141906460:A:C Identity +NM_001136042.2:c.1463T>C NP_001129514.2:p.Val488Ala NC_000017.11:42954887:A:G p.(Val488Ala) NC_000017.11:42954887:A:G p.(Val488Ala) NC_000017.11:42954887:A:G Identity +NM_001083907.3:c.809G>T NP_001077376.3:p.Cys270Phe NC_000004.12:101870639:G:T p.(Cys270Phe) NC_000004.12:101870639:G:T p.(Cys270Phe) NC_000004.12:101870639:G:T Identity +NM_001184.4:c.7769C>T NP_001175.2:p.Thr2590Ile NC_000003.12:142449594:G:A p.(Thr2590Ile) NC_000003.12:142449594:G:A p.(Thr2590Ile) NC_000003.12:142449594:G:A Identity +NM_001321307.1:c.191A>T NP_001308236.1:p.Asn64Ile NC_000011.10:108193982:T:A p.(Asn64Ile) NC_000011.10:108193982:T:A p.(Asn64Ile) NC_000011.10:108193982:T:A Identity +NM_001321307.1:c.4132A>G NP_001308236.1:p.Lys1378Glu NC_000011.10:108160974:T:C p.(Lys1378Glu) NC_000011.10:108160974:T:C p.(Lys1378Glu) NC_000011.10:108160974:T:C Identity +NM_001384708.1:c.146C>G NP_001371637.1:p.Ser49Cys NC_000019.10:51630107:G:C p.(Ser49Cys) NC_000019.10:51630107:G:C p.(Ser49Cys) NC_000019.10:51630107:G:C Identity +NM_001267571.2:c.1883G>A NP_001254500.1:p.Arg628His NC_000009.12:98208934:C:T p.(Arg628His) NC_000009.12:98208934:C:T p.(Arg628His) NC_000009.12:98208934:C:T Identity +NM_000363.5:c.232A>T NP_000354.4:p.Thr78Ser NC_000019.10:55156250:T:A p.(Thr78Ser) NC_000019.10:55156250:T:A p.(Thr78Ser) NC_000019.10:55156250:T:A Identity +NM_032351.6:c.634A>C NP_115727.5:p.Ile212Leu NC_000017.11:38320740:A:C p.(Ile212Leu) NC_000017.11:38320740:A:C p.(Ile212Leu) NC_000017.11:38320740:A:C Identity +NM_001349877.1:c.892G>A NP_001336806.1:p.Glu298Lys NC_000022.11:23160880:G:A p.(Glu298Lys) NC_000022.11:23160880:G:A p.(Glu298Lys) NC_000022.11:23160880:G:A Identity +NM_001385642.1:c.1220A>G NP_001372571.1:p.Asn407Ser NC_000019.10:2416707:A:G p.(Asn407Ser) NC_000019.10:2416707:A:G p.(Asn407Ser) NC_000019.10:2416707:A:G Identity +NM_001173988.2:c.205G>A NP_001167459.1:p.Val69Met NC_000009.12:136823598:G:A p.(Val69Met) NC_000009.12:136823598:G:A p.(Val69Met) NC_000009.12:136823598:G:A Identity +NM_001321307.1:c.2698C>A NP_001308236.1:p.Gln900Lys NC_000011.10:108172285:G:T p.(Gln900Lys) NC_000011.10:108172285:G:T p.(Gln900Lys) NC_000011.10:108172285:G:T Identity +NM_000051.4:c.305A>G NP_000042.3:p.Lys102Arg NC_000011.10:108229296:A:G p.(Lys102Arg) NC_000011.10:108229296:A:G p.(Lys102Arg) NC_000011.10:108229296:A:G Identity +NM_001035.3:c.8425C>G NP_001026.2:p.Gln2809Glu NC_000001.11:237660935:C:G p.(Gln2809Glu) NC_000001.11:237660935:C:G p.(Gln2809Glu) NC_000001.11:237660935:C:G Identity +NM_005588.3:c.1403G>T NP_005579.2:p.Gly468Val NC_000006.12:46833331:G:T p.(Gly468Val) NC_000006.12:46833331:G:T p.(Gly468Val) NC_000006.12:46833331:G:T Identity +NM_001204426.2:c.493G>A NP_001191355.1:p.Val165Ile NC_000007.14:74099224:G:A p.(Val165Ile) NC_000007.14:74099224:G:A p.(Val165Ile) NC_000007.14:74099224:G:A Identity +NM_001005202.2:c.836T>A NP_001005202.1:p.Leu279Gln NC_000011.10:56319141:T:A p.(Leu279Gln) NC_000011.10:56319141:T:A p.(Leu279Gln) NC_000011.10:56319141:T:A Identity +NM_001288985.2:c.4309T>A NP_001275914.1:p.Ser1437Thr NC_000017.11:68876520:A:T p.(Ser1437Thr) NC_000017.11:68876520:A:T p.(Ser1437Thr) NC_000017.11:68876520:A:T Identity +NM_001098623.2:c.16400C>T NP_001092093.2:p.Ser5467Leu NC_000001.11:228335292:C:T p.(Ser5467Leu) NC_000001.11:228335292:C:T p.(Ser5467Leu) NC_000001.11:228335292:C:T Identity +NM_001303114.1:c.844A>C NP_001290043.1:p.Ile282Leu NC_000012.12:49272510:A:C p.(Ile282Leu) NC_000012.12:49272510:A:C p.(Ile282Leu) NC_000012.12:49272510:A:C Identity +NM_001146075.2:c.1270C>T NP_001139547.1:p.Pro424Ser NC_000012.12:47670260:G:A p.(Pro424Ser) NC_000012.12:47670260:G:A p.(Pro424Ser) NC_000012.12:47670260:G:A Identity +NM_001085447.2:c.1447T>G NP_001078916.1:p.Ser483Ala NC_000002.12:169646052:A:C p.(Ser483Ala) NC_000002.12:169646052:A:C p.(Ser483Ala) NC_000002.12:169646052:A:C Identity +NM_018303.6:c.716C>T NP_060773.3:p.Thr239Met NC_000006.12:610123:G:A p.(Thr239Met) NC_000006.12:610123:G:A p.(Thr239Met) NC_000006.12:610123:G:A Identity +NM_001385060.1:c.5758A>G NP_001371989.1:p.Thr1920Ala NC_000003.12:151443188:T:C p.(Thr1920Ala) NC_000003.12:151443188:T:C p.(Thr1920Ala) NC_000003.12:151443188:T:C Identity +NM_001143962.2:c.265G>A NP_001137434.1:p.Val89Ile NC_000001.11:223654371:C:T p.(Val89Ile) NC_000001.11:223654371:C:T p.(Val89Ile) NC_000001.11:223654371:C:T Identity +NM_004851.3:c.44C>T NP_004842.1:p.Pro15Leu NC_000019.10:50365577:G:A p.(Pro15Leu) NC_000019.10:50365577:G:A p.(Pro15Leu) NC_000019.10:50365577:G:A Identity +NM_005940.5:c.1264G>A NP_005931.2:p.Val422Met NC_000022.11:23782413:G:A p.(Val422Met) NC_000022.11:23782413:G:A p.(Val422Met) NC_000022.11:23782413:G:A Identity +NM_002272.4:c.833C>A NP_002263.3:p.Ala278Glu NC_000012.12:52809383:G:T p.(Ala278Glu) NC_000012.12:52809383:G:T p.(Ala278Glu) NC_000012.12:52809383:G:T Identity +NM_001346738.2:c.232A>G NP_001333667.1:p.Thr78Ala NC_000001.11:235160643:T:C p.(Thr78Ala) NC_000001.11:235160643:T:C p.(Thr78Ala) NC_000001.11:235160643:T:C Identity +NM_001320044.2:c.749G>A NP_001306973.1:p.Arg250His NC_000003.12:47420602:C:T p.(Arg250His) NC_000003.12:47420602:C:T p.(Arg250His) NC_000003.12:47420602:C:T Identity +NM_001201380.3:c.1348G>A NP_001188309.2:p.Asp450Asn NC_000009.12:41986296:C:T p.(Asp450Asn) NC_000009.12:41986296:C:T p.(Asp450Asn) NC_000009.12:41986296:C:T Identity +NM_001010906.2:c.692T>A NP_001010906.1:p.Ile231Asn NC_000008.11:28067532:A:T p.(Ile231Asn) NC_000008.11:28067532:A:T p.(Ile231Asn) NC_000008.11:28067532:A:T Identity +NM_177437.1:c.82C>T NP_803186.1:p.Arg28Cys NC_000007.14:143443533:C:T p.(Arg28Cys) NC_000007.14:143443533:C:T p.(Arg28Cys) NC_000007.14:143443533:C:T Identity +NM_001085479.3:c.149G>A NP_001078948.1:p.Arg50His NC_000003.12:51830484:G:A p.(Arg50His) NC_000003.12:51830484:G:A p.(Arg50His) NC_000003.12:51830484:G:A Identity +NM_001144990.2:c.4432G>A NP_001138462.1:p.Gly1478Arg NC_000004.12:37446419:G:A p.(Gly1478Arg) NC_000004.12:37446419:G:A p.(Gly1478Arg) NC_000004.12:37446419:G:A Identity +NM_001080779.2:c.394C>T NP_001074248.1:p.Arg132Trp NC_000017.11:1483012:G:A p.(Arg132Trp) NC_000017.11:1483012:G:A p.(Arg132Trp) NC_000017.11:1483012:G:A Identity +NM_001168319.2:c.86C>A NP_001161791.1:p.Ala29Glu NC_000006.12:12292364:C:A p.(Ala29Glu) NC_000006.12:12292364:C:A p.(Ala29Glu) NC_000006.12:12292364:C:A Identity +NM_001324171.2:c.1271A>G NP_001311100.1:p.Asn424Ser NC_000016.10:74912315:T:C p.(Asn424Ser) NC_000016.10:74912315:T:C p.(Asn424Ser) NC_000016.10:74912315:T:C Identity +NM_005777.3:c.293G>C NP_005768.1:p.Gly98Ala NC_000003.12:49967717:G:C p.(Gly98Ala) NC_000003.12:49967717:G:C p.(Gly98Ala) NC_000003.12:49967717:G:C Identity +NM_001004462.2:c.613G>C NP_001004462.1:p.Val205Leu NC_000011.10:124016186:G:C p.(Val205Leu) NC_000011.10:124016186:G:C p.(Val205Leu) NC_000011.10:124016186:G:C Identity +NM_001256395.2:c.901G>A NP_001243324.1:p.Asp301Asn NC_000001.11:156382196:G:A p.(Asp301Asn) NC_000001.11:156382196:G:A p.(Asp301Asn) NC_000001.11:156382196:G:A Identity +NM_001272075.2:c.400G>A NP_001259004.1:p.Val134Met NC_000016.10:84744868:G:A p.(Val134Met) NC_000016.10:84744868:G:A p.(Val134Met) NC_000016.10:84744868:G:A Identity +NM_001318185.2:c.1073C>A NP_001305114.1:p.Ala358Asp NC_000016.10:31408487:C:A p.(Ala358Asp) NC_000016.10:31408487:C:A p.(Ala358Asp) NC_000016.10:31408487:C:A Identity +NM_024923.4:c.2344C>T NP_079199.2:p.His782Tyr NC_000003.12:13354091:G:A p.(His782Tyr) NC_000003.12:13354091:G:A p.(His782Tyr) NC_000003.12:13354091:G:A Identity +NM_001098533.3:c.803G>A NP_001092003.2:p.Arg268Gln NC_000016.10:89695642:G:A p.(Arg268Gln) NC_000016.10:89695642:G:A p.(Arg268Gln) NC_000016.10:89695642:G:A Identity +NM_001039397.3:c.253T>C NP_001034486.2:p.Trp85Arg NC_000017.11:18638646:A:G p.(Trp85Arg) NC_000017.11:18638646:A:G p.(Trp85Arg) NC_000017.11:18638646:A:G Identity +NM_001004463.2:c.164C>A NP_001004463.1:p.Thr55Asn NC_000011.10:124038837:G:T p.(Thr55Asn) NC_000011.10:124038837:G:T p.(Thr55Asn) NC_000011.10:124038837:G:T Identity +NM_001135163.1:c.974G>A NP_001128635.1:p.Arg325Lys NC_000019.10:49959442:C:T p.(Arg325Lys) NC_000019.10:49959442:C:T p.(Arg325Lys) NC_000019.10:49959442:C:T Identity +NM_001018009.4:c.737G>C NP_001018009.2:p.Gly246Ala NC_000003.12:15256245:C:G p.(Gly246Ala) NC_000003.12:15256245:C:G p.(Gly246Ala) NC_000003.12:15256245:C:G Identity +NM_006982.3:c.377A>G NP_008913.2:p.Asn126Ser NC_000012.12:85283721:A:G p.(Asn126Ser) NC_000012.12:85283721:A:G p.(Asn126Ser) NC_000012.12:85283721:A:G Identity +NM_001319071.2:c.1530T>G NP_001306000.1:p.His510Gln NC_000003.12:45738833:T:G p.(His510Gln) NC_000003.12:45738833:T:G p.? NC_000003.12:45738833:T:G Identity +NM_001218.5:c.32T>A NP_001209.1:p.Val11Glu NC_000015.10:63381688:A:T p.(Val11Glu) NC_000015.10:63381688:A:T p.(Val11Glu) NC_000015.10:63381688:A:T Identity +NM_001168339.2:c.407C>T NP_001161811.2:p.Thr136Ile NC_000009.12:15211274:G:A p.(Thr136Ile) NC_000009.12:15211274:G:A p.(Thr136Ile) NC_000009.12:15211274:G:A Identity +NM_001329963.1:c.905C>T NP_001316892.1:p.Ser302Leu NC_000002.12:38861198:G:A p.(Ser302Leu) NC_000002.12:38861198:G:A p.(Ser302Leu) NC_000002.12:38861198:G:A Identity +NM_001104595.2:c.175G>A NP_001098065.1:p.Val59Ile NC_000022.11:45323301:G:A p.(Val59Ile) NC_000022.11:45323301:G:A p.(Val59Ile) NC_000022.11:45323301:G:A Identity +NM_001451.3:c.346C>T NP_001442.2:p.Pro116Ser NC_000016.10:86510914:C:T p.(Pro116Ser) NC_000016.10:86510914:C:T p.(Pro116Ser) NC_000016.10:86510914:C:T Identity +NM_001080409.3:c.616C>T NP_001073878.2:p.Arg206Cys NC_000019.10:22759292:G:A p.(Arg206Cys) NC_000019.10:22759292:G:A p.(Arg206Cys) NC_000019.10:22759292:G:A Identity +NM_005299.3:c.229C>A NP_005290.2:p.Leu77Ile NC_000006.12:167157602:G:T p.(Leu77Ile) NC_000006.12:167157602:G:T p.(Leu77Ile) NC_000006.12:167157602:G:T Identity +NM_001267843.2:c.2017G>A NP_001254772.1:p.Gly673Arg NC_000004.12:55442519:C:T p.(Gly673Arg) NC_000004.12:55442519:C:T p.(Gly673Arg) NC_000004.12:55442519:C:T Identity +NM_001363910.2:c.1489G>A NP_001350839.1:p.Val497Ile NC_000002.12:209693670:G:A p.(Val497Ile) NC_000002.12:209693670:G:A p.(Val497Ile) NC_000002.12:209693670:G:A Identity +NM_012378.2:c.785C>G NP_036510.1:p.Pro262Arg NC_000011.10:124440300:G:C p.(Pro262Arg) NC_000011.10:124440300:G:C p.(Pro262Arg) NC_000011.10:124440300:G:C Identity +NM_001005493.2:c.79C>G NP_001005493.1:p.Leu27Val NC_000012.12:55295153:G:C p.(Leu27Val) NC_000012.12:55295153:G:C p.(Leu27Val) NC_000012.12:55295153:G:C Identity +NM_014643.4:c.683G>A NP_055458.1:p.Gly228Glu NC_000018.10:76442371:C:T p.(Gly228Glu) NC_000018.10:76442371:C:T p.(Gly228Glu) NC_000018.10:76442371:C:T Identity +NM_001009570.3:c.893C>T NP_001009570.1:p.Ala298Val NC_000002.12:73252733:C:T p.(Ala298Val) NC_000002.12:73252733:C:T p.(Ala298Val) NC_000002.12:73252733:C:T Identity +NM_001010847.2:c.685C>T NP_001010847.1:p.Arg229Cys NC_000001.11:13476045:G:A p.(Arg229Cys) NC_000001.11:13476045:G:A p.(Arg229Cys) NC_000001.11:13476045:G:A Identity +NM_001114938.3:c.1531C>T NP_001108410.2:p.Arg511Cys NC_000001.11:45620970:G:A p.(Arg511Cys) NC_000001.11:45620970:G:A p.(Arg511Cys) NC_000001.11:45620970:G:A Identity +NM_001256316.2:c.22A>G NP_001243245.1:p.Met8Val NC_000018.10:27142787:T:C p.(Met8Val) NC_000018.10:27142787:T:C p.(Met8Val) NC_000018.10:27142787:T:C Identity +NM_001142593.3:c.1189C>T NP_001136065.1:p.Pro397Ser NC_000014.9:92941616:G:A p.(Pro397Ser) NC_000014.9:92941616:G:A p.(Pro397Ser) NC_000014.9:92941616:G:A Identity +NM_001145098.3:c.1364G>A NP_001138570.1:p.Arg455His NC_000003.12:170384759:G:A p.(Arg455His) NC_000003.12:170384759:G:A p.(Arg455His) NC_000003.12:170384759:G:A Identity +NM_001286574.2:c.311C>T NP_001273503.1:p.Ala104Val NC_000006.12:35738384:C:T p.(Ala104Val) NC_000006.12:35738384:C:T p.(Ala104Val) NC_000006.12:35738384:C:T Identity +NM_001351282.2:c.839C>T NP_001338211.1:p.Ala280Val NC_000012.12:85980000:G:A p.(Ala280Val) NC_000012.12:85980000:G:A p.(Ala280Val) NC_000012.12:85980000:G:A Identity +NM_002426.6:c.397G>T NP_002417.2:p.Ala133Ser NC_000011.10:102871905:C:A p.(Ala133Ser) NC_000011.10:102871905:C:A p.(Ala133Ser) NC_000011.10:102871905:C:A Identity +NM_001167575.2:c.253G>A NP_001161047.1:p.Ala85Thr NC_000009.12:26861116:C:T p.(Ala85Thr) NC_000009.12:26861116:C:T p.(Ala85Thr) NC_000009.12:26861116:C:T Identity +NM_015360.5:c.856A>G NP_056175.3:p.Ile286Val NC_000005.10:55343404:A:G p.(Ile286Val) NC_000005.10:55343404:A:G p.(Ile286Val) NC_000005.10:55343404:A:G Identity +NM_001873.4:c.889C>T NP_001864.1:p.Arg297Trp NC_000004.12:165484519:C:T p.(Arg297Trp) NC_000004.12:165484519:C:T p.(Arg297Trp) NC_000004.12:165484519:C:T Identity +NM_006076.5:c.661G>C NP_006067.3:p.Ala221Pro NC_000007.14:100554167:G:C p.(Ala221Pro) NC_000007.14:100554167:G:C p.(Ala221Pro) NC_000007.14:100554167:G:C Identity +NM_001386104.1:c.835G>A NP_001373033.1:p.Val279Met NC_000017.11:3216454:G:A p.(Val279Met) NC_000017.11:3216454:G:A p.(Val279Met) NC_000017.11:3216454:G:A Identity +NM_001306080.2:c.2623C>A NP_001293009.1:p.Leu875Ile NC_000013.11:75821591:C:A p.(Leu875Ile) NC_000013.11:75821591:C:A p.(Leu875Ile) NC_000013.11:75821591:C:A Identity +NM_001278945.2:c.517G>A NP_001265874.1:p.Val173Ile NC_000008.11:27820642:C:T p.(Val173Ile) NC_000008.11:27820642:C:T p.(Val173Ile) NC_000008.11:27820642:C:T Identity +NM_025057.3:c.581G>A NP_079333.2:p.Arg194Gln NC_000014.9:74046063:G:A p.(Arg194Gln) NC_000014.9:74046063:G:A p.(Arg194Gln) NC_000014.9:74046063:G:A Identity +NM_001166434.3:c.2144C>T NP_001159906.1:p.Thr715Met NC_000003.12:52791591:C:T p.(Thr715Met) NC_000003.12:52791591:C:T p.(Thr715Met) NC_000003.12:52791591:C:T Identity +NM_001430.5:c.949G>A NP_001421.2:p.Val317Met NC_000002.12:46375751:G:A p.(Val317Met) NC_000002.12:46375751:G:A p.(Val317Met) NC_000002.12:46375751:G:A Identity +NM_001098623.2:c.18320C>T NP_001092093.2:p.Pro6107Leu NC_000001.11:228350843:C:T p.(Pro6107Leu) NC_000001.11:228350843:C:T p.(Pro6107Leu) NC_000001.11:228350843:C:T Identity +NM_001004310.3:c.974C>T NP_001004310.2:p.Ala325Val NC_000001.11:159810180:C:T p.(Ala325Val) NC_000001.11:159810180:C:T p.(Ala325Val) NC_000001.11:159810180:C:T Identity +NM_022093.2:c.1375G>A NP_071376.1:p.Ala459Thr NC_000001.11:175094039:G:A p.(Ala459Thr) NC_000001.11:175094039:G:A p.(Ala459Thr) NC_000001.11:175094039:G:A Identity +NM_001430.5:c.343A>G NP_001421.2:p.Ile115Val NC_000002.12:46356275:A:G p.(Ile115Val) NC_000002.12:46356275:A:G p.(Ile115Val) NC_000002.12:46356275:A:G Identity +NM_173653.4:c.1003A>T NP_775924.1:p.Ile335Leu NC_000003.12:143552447:T:A p.(Ile335Leu) NC_000003.12:143552447:T:A p.(Ile335Leu) NC_000003.12:143552447:T:A Identity +NM_001128612.3:c.705G>C NP_001122084.2:p.Arg235Ser NC_000011.10:64229504:G:C p.(Arg235Ser) NC_000011.10:64229504:G:C p.(Arg235Ser) NC_000011.10:64229504:G:C Identity +NM_001184976.2:c.2977G>T NP_001171905.1:p.Ala993Ser NC_000012.12:54536996:G:T p.(Ala993Ser) NC_000012.12:54536996:G:T p.(Ala993Ser) NC_000012.12:54536996:G:T Identity +NM_145040.3:c.774G>C NP_659477.2:p.Glu258Asp NC_000011.10:6319174:C:G p.(Glu258Asp) NC_000011.10:6319174:C:G p.(Glu258Asp) NC_000011.10:6319174:C:G Identity +NM_001316936.2:c.217C>T NP_001303865.1:p.Arg73Cys NC_000019.10:9811560:G:A p.(Arg73Cys) NC_000019.10:9811560:G:A p.(Arg73Cys) NC_000019.10:9811560:G:A Identity +NM_002843.4:c.3674A>G NP_002834.3:p.Tyr1225Cys NC_000011.10:48163572:A:G p.(Tyr1225Cys) NC_000011.10:48163572:A:G p.(Tyr1225Cys) NC_000011.10:48163572:A:G Identity +NM_001032999.3:c.564G>C NP_001028171.1:p.Lys188Asn NC_000020.11:33623167:G:C p.(Lys188Asn) NC_000020.11:33623167:G:C p.(Lys188Asn) NC_000020.11:33623167:G:C Identity +NM_001134231.2:c.121G>C NP_001127703.1:p.Ala41Pro NC_000003.12:52533616:C:G p.(Ala41Pro) NC_000003.12:52533616:C:G p.(Ala41Pro) NC_000003.12:52533616:C:G Identity +NM_003394.4:c.821C>A NP_003385.2:p.Ala274Glu NC_000012.12:48966443:G:T p.(Ala274Glu) NC_000012.12:48966443:G:T p.(Ala274Glu) NC_000012.12:48966443:G:T Identity +NM_033058.3:c.1352G>A NP_149047.2:p.Arg451Gln NC_000008.11:66154161:G:A p.(Arg451Gln) NC_000008.11:66154161:G:A p.(Arg451Gln) NC_000008.11:66154161:G:A Identity +NM_001378183.1:c.1973T>G NP_001365112.1:p.Val658Gly NC_000018.10:10789274:A:C p.(Val658Gly) NC_000018.10:10789274:A:C p.(Val658Gly) NC_000018.10:10789274:A:C Identity +NM_020440.4:c.1992G>C NP_065173.2:p.Arg664Ser NC_000001.11:116967262:G:C p.(Arg664Ser) NC_000001.11:116967262:G:C p.(Arg664Ser) NC_000001.11:116967262:G:C Identity +NM_001898.3:c.160G>A NP_001889.2:p.Glu54Lys NC_000020.11:23750706:C:T p.(Glu54Lys) NC_000020.11:23750706:C:T p.(Glu54Lys) NC_000020.11:23750706:C:T Identity +NM_001370.2:c.4253T>C NP_001361.1:p.Ile1418Thr NC_000002.12:84624519:T:C p.(Ile1418Thr) NC_000002.12:84624519:T:C p.(Ile1418Thr) NC_000002.12:84624519:T:C Identity +NM_004996.4:c.577G>C NP_004987.2:p.Asp193His NC_000016.10:16016582:G:C p.(Asp193His) NC_000016.10:16016582:G:C p.(Asp193His) NC_000016.10:16016582:G:C Identity +NM_001023561.4:c.713A>G NP_001018855.2:p.Asn238Ser NC_000019.10:57443860:A:G p.(Asn238Ser) NC_000019.10:57443860:A:G p.(Asn238Ser) NC_000019.10:57443860:A:G Identity +NM_001009960.1:c.692A>G NP_001009960.1:p.Gln231Arg NC_000007.14:99572799:A:G p.(Gln231Arg) NC_000007.14:99572799:A:G p.(Gln231Arg) NC_000007.14:99572799:A:G Identity +NM_001370.2:c.7527T>G NP_001361.1:p.Ile2509Met NC_000002.12:84697576:T:G p.(Ile2509Met) NC_000002.12:84697576:T:G p.(Ile2509Met) NC_000002.12:84697576:T:G Identity +NM_001346370.2:c.578C>T NP_001333299.1:p.Ala193Val NC_000009.12:137574269:G:A p.(Ala193Val) NC_000009.12:137574269:G:A p.(Ala193Val) NC_000009.12:137574269:G:A Identity +NM_001278712.2:c.836A>C NP_001265641.1:p.Glu279Ala NC_000003.12:112534295:T:G p.(Glu279Ala) NC_000003.12:112534295:T:G p.(Glu279Ala) NC_000003.12:112534295:T:G Identity +NM_030613.4:c.776T>A NP_085116.2:p.Val259Glu NC_000005.10:178932088:T:A p.(Val259Glu) NC_000005.10:178932088:T:A p.(Val259Glu) NC_000005.10:178932088:T:A Identity +NM_001163278.2:c.5012C>T NP_001156750.1:p.Ala1671Val NC_000023.11:124406459:G:A p.(Ala1671Val) NC_000023.11:124406459:G:A p.(Ala1671Val) NC_000023.11:124406459:G:A Identity +NM_001290268.2:c.79G>A NP_001277197.1:p.Ala27Thr NC_000020.11:50630780:C:T p.(Ala27Thr) NC_000020.11:50630780:C:T p.(Ala27Thr) NC_000020.11:50630780:C:T Identity +NM_001410772.1:c.278C>T NP_001397701.1:p.Thr93Ile NC_000003.12:52408054:G:A p.(Thr93Ile) NC_000003.12:52408054:G:A p.(Thr93Ile) NC_000003.12:52408054:G:A Identity +NM_001410926.1:c.467T>C NP_001397855.1:p.Val156Ala NC_000008.11:63026189:A:G p.(Val156Ala) NC_000008.11:63026189:A:G p.(Val156Ala) NC_000008.11:63026189:A:G Identity +NM_017906.3:c.482A>G NP_060376.2:p.Lys161Arg NC_000006.12:10703442:A:G p.(Lys161Arg) NC_000006.12:10703442:A:G p.(Lys161Arg) NC_000006.12:10703442:A:G Identity +NM_001137608.3:c.296T>C NP_001131080.1:p.Ile99Thr NC_000004.12:272560:A:G p.(Ile99Thr) NC_000004.12:272560:A:G p.(Ile99Thr) NC_000004.12:272560:A:G Identity +NM_018385.3:c.80A>G NP_060855.2:p.His27Arg NC_000003.12:194672082:T:C p.(His27Arg) NC_000003.12:194672082:T:C p.(His27Arg) NC_000003.12:194672082:T:C Identity +NM_000903.3:c.578T>C NP_000894.1:p.Ile193Thr NC_000016.10:69711222:A:G p.(Ile193Thr) NC_000016.10:69711222:A:G p.(Ile193Thr) NC_000016.10:69711222:A:G Identity +NM_198471.3:c.724G>C NP_940873.2:p.Asp242His NC_000019.10:8335102:C:G p.(Asp242His) NC_000019.10:8335102:C:G p.(Asp242His) NC_000019.10:8335102:C:G Identity +NM_022493.3:c.226G>A NP_071938.1:p.Gly76Ser NC_000016.10:737265:C:T p.(Gly76Ser) NC_000016.10:737265:C:T p.(Gly76Ser) NC_000016.10:737265:C:T Identity +NM_015710.5:c.722C>T NP_056525.2:p.Ala241Val NC_000019.10:47752563:C:T p.(Ala241Val) NC_000019.10:47752563:C:T p.(Ala241Val) NC_000019.10:47752563:C:T Identity +NM_001005187.1:c.782G>A NP_001005187.1:p.Arg261His NC_000011.10:123943056:C:T p.(Arg261His) NC_000011.10:123943056:C:T p.(Arg261His) NC_000011.10:123943056:C:T Identity +NM_000669.5:c.191T>C NP_000660.1:p.Val64Ala NC_000004.12:99347073:A:G p.(Val64Ala) NC_000004.12:99347073:A:G p.(Val64Ala) NC_000004.12:99347073:A:G Identity +NM_001130065.2:c.3146C>T NP_001123537.1:p.Ser1049Leu NC_000019.10:17194572:C:T p.(Ser1049Leu) NC_000019.10:17194572:C:T p.(Ser1049Leu) NC_000019.10:17194572:C:T Identity +NM_001198934.2:c.2372C>G NP_001185863.1:p.Ala791Gly NC_000006.12:43443114:C:G p.(Ala791Gly) NC_000006.12:43443114:C:G p.(Ala791Gly) NC_000006.12:43443114:C:G Identity +NM_001350929.2:c.7534T>C NP_001337858.1:p.Ser2512Pro NC_000014.9:104947616:A:G p.(Ser2512Pro) NC_000014.9:104947616:A:G p.(Ser2512Pro) NC_000014.9:104947616:A:G Identity +NM_001289987.3:c.1165C>T NP_001276916.1:p.Arg389Cys NC_000006.12:75314675:G:A p.(Arg389Cys) NC_000006.12:75314675:G:A p.(Arg389Cys) NC_000006.12:75314675:G:A Identity +NM_015206.3:c.1057C>T NP_056021.1:p.Arg353Cys NC_000015.10:79457203:C:T p.(Arg353Cys) NC_000015.10:79457203:C:T p.(Arg353Cys) NC_000015.10:79457203:C:T Identity +NM_001284220.2:c.473G>A NP_001271149.1:p.Arg158Gln NC_000008.11:28129572:G:A p.(Arg158Gln) NC_000008.11:28129572:G:A p.(Arg158Gln) NC_000008.11:28129572:G:A Identity +NM_020163.3:c.688G>A NP_064548.1:p.Ala230Thr NC_000003.12:52441388:C:T p.(Ala230Thr) NC_000003.12:52441388:C:T p.(Ala230Thr) NC_000003.12:52441388:C:T Identity +NM_032242.4:c.17G>A NP_115618.3:p.Arg6Gln NC_000003.12:126988609:G:A p.(Arg6Gln) NC_000003.12:126988609:G:A p.(Arg6Gln) NC_000003.12:126988609:G:A Identity +NM_001267782.2:c.3863G>C NP_001254711.1:p.Arg1288Thr NC_000011.10:46397492:C:G p.(Arg1288Thr) NC_000011.10:46397492:C:G p.(Arg1288Thr) NC_000011.10:46397492:C:G Identity +NM_003185.4:c.1537A>G NP_003176.2:p.Ile513Val NC_000020.11:62012918:T:C p.(Ile513Val) NC_000020.11:62012918:T:C p.(Ile513Val) NC_000020.11:62012918:T:C Identity +NM_001330341.2:c.890C>T NP_001317270.1:p.Ala297Val NC_000017.11:50840456:C:T p.(Ala297Val) NC_000017.11:50840456:C:T p.(Ala297Val) NC_000017.11:50840456:C:T Identity +NM_001005211.2:c.226G>A NP_001005211.1:p.Val76Ile NC_000011.10:58119218:C:T p.(Val76Ile) NC_000011.10:58119218:C:T p.(Val76Ile) NC_000011.10:58119218:C:T Identity +NM_001142540.2:c.193G>A NP_001136012.1:p.Val65Ile NC_000006.12:8429967:C:T p.(Val65Ile) NC_000006.12:8429967:C:T p.(Val65Ile) NC_000006.12:8429967:C:T Identity +NM_001169106.2:c.1083C>G NP_001162577.1:p.Phe361Leu NC_000010.11:45752666:C:G p.(Phe361Leu) NC_000010.11:45752666:C:G p.(Phe361Leu) NC_000010.11:45752666:C:G Identity +NM_001329722.2:c.502G>A NP_001316651.1:p.Val168Met NC_000001.11:32895396:C:T p.(Val168Met) NC_000001.11:32895396:C:T p.(Val168Met) NC_000001.11:32895396:C:T Identity +NM_001142540.2:c.1171G>A NP_001136012.1:p.Ala391Thr NC_000006.12:8413583:C:T p.(Ala391Thr) NC_000006.12:8413583:C:T p.(Ala391Thr) NC_000006.12:8413583:C:T Identity +NM_001306158.2:c.398A>G NP_001293087.1:p.Asn133Ser NC_000002.12:113640993:A:G p.(Asn133Ser) NC_000002.12:113640993:A:G p.(Asn133Ser) NC_000002.12:113640993:A:G Identity +NM_198471.3:c.803G>A NP_940873.2:p.Arg268Gln NC_000019.10:8335023:C:T p.(Arg268Gln) NC_000019.10:8335023:C:T p.(Arg268Gln) NC_000019.10:8335023:C:T Identity +NM_001370464.1:c.49G>A NP_001357393.1:p.Gly17Arg NC_000011.10:18137250:G:A p.(Gly17Arg) NC_000011.10:18137250:G:A p.(Gly17Arg) NC_000011.10:18137250:G:A Identity +NM_000861.3:c.670C>T NP_000852.1:p.Arg224Trp NC_000003.12:11259706:C:T p.(Arg224Trp) NC_000003.12:11259706:C:T p.(Arg224Trp) NC_000003.12:11259706:C:T Identity +NM_001303052.2:c.3427A>G NP_001289981.1:p.Ile1143Val NC_000002.12:1792000:T:C p.(Ile1143Val) NC_000002.12:1792000:T:C p.(Ile1143Val) NC_000002.12:1792000:T:C Identity +NM_001334.3:c.221A>G NP_001325.1:p.Tyr74Cys NC_000004.12:155943178:T:C p.(Tyr74Cys) NC_000004.12:155943178:T:C p.(Tyr74Cys) NC_000004.12:155943178:T:C Identity +NM_001040667.3:c.728C>T NP_001035757.1:p.Ser243Leu NC_000016.10:67167220:C:T p.(Ser243Leu) NC_000016.10:67167220:C:T p.(Ser243Leu) NC_000016.10:67167220:C:T Identity +NM_018557.3:c.12752A>G NP_061027.2:p.Asn4251Ser NC_000002.12:140314987:T:C p.(Asn4251Ser) NC_000002.12:140314987:T:C p.(Asn4251Ser) NC_000002.12:140314987:T:C Identity +NM_000680.4:c.737G>A NP_000671.2:p.Ser246Asn NC_000008.11:26864232:C:T p.(Ser246Asn) NC_000008.11:26864232:C:T p.(Ser246Asn) NC_000008.11:26864232:C:T Identity +NM_181621.4:c.323G>A NP_853652.1:p.Arg108His NC_000021.9:30371890:C:T p.(Arg108His) NC_000021.9:30371890:C:T p.(Arg108His) NC_000021.9:30371890:C:T Identity +NM_001242702.2:c.710C>G NP_001229631.1:p.Thr237Arg NC_000010.11:27734583:G:C p.(Thr237Arg) NC_000010.11:27734583:G:C p.(Thr237Arg) NC_000010.11:27734583:G:C Identity +NM_001193286.2:c.542C>T NP_001180215.1:p.Thr181Met NC_000019.10:38881469:G:A p.(Thr181Met) NC_000019.10:38881469:G:A p.(Thr181Met) NC_000019.10:38881469:G:A Identity +NM_138378.3:c.1819A>G NP_612387.1:p.Met607Val NC_000011.10:111874977:T:C p.(Met607Val) NC_000011.10:111874977:T:C p.(Met607Val) NC_000011.10:111874977:T:C Identity +NM_001286789.2:c.241T>G NP_001273718.1:p.Tyr81Asp NC_000021.9:36070355:T:G p.(Tyr81Asp) NC_000021.9:36070355:T:G p.(Tyr81Asp) NC_000021.9:36070355:T:G Identity +NM_001285.4:c.1453C>T NP_001276.3:p.Arg485Cys NC_000001.11:86491359:C:T p.(Arg485Cys) NC_000001.11:86491359:C:T p.(Arg485Cys) NC_000001.11:86491359:C:T Identity +NM_001286408.2:c.697C>T NP_001273337.1:p.Arg233Cys NC_000006.12:107720804:G:A p.(Arg233Cys) NC_000006.12:107720804:G:A p.(Arg233Cys) NC_000006.12:107720804:G:A Identity +NM_001364716.4:c.7226C>T NP_001351645.2:p.Thr2409Met NC_000017.11:17184841:C:T p.(Thr2409Met) NC_000017.11:17184841:C:T p.(Thr2409Met) NC_000017.11:17184841:C:T Identity +NM_153334.7:c.1756G>C NP_699165.3:p.Glu586Gln NC_000022.11:20426234:C:G p.(Glu586Gln) NC_000022.11:20426234:C:G p.(Glu586Gln) NC_000022.11:20426234:C:G Identity +NM_001114108.2:c.703C>T NP_001107580.1:p.Arg235Trp NC_000001.11:54787746:G:A p.(Arg235Trp) NC_000001.11:54787746:G:A p.(Arg235Trp) NC_000001.11:54787746:G:A Identity +NM_002535.3:c.1727C>T NP_002526.2:p.Ala576Val NC_000012.12:113007774:C:T p.(Ala576Val) NC_000012.12:113007774:C:T p.(Ala576Val) NC_000012.12:113007774:C:T Identity +NM_001289403.2:c.62A>G NP_001276332.1:p.His21Arg NC_000010.11:97498322:T:C p.(His21Arg) NC_000010.11:97498322:T:C p.(His21Arg) NC_000010.11:97498322:T:C Identity +NM_001143970.2:c.1078G>C NP_001137442.1:p.Val360Leu NC_000006.12:4952406:G:C p.(Val360Leu) NC_000006.12:4952406:G:C p.(Val360Leu) NC_000006.12:4952406:G:C Identity +NM_032142.4:c.3116G>C NP_115518.3:p.Arg1039Thr NC_000018.10:13053016:G:C p.(Arg1039Thr) NC_000018.10:13053016:G:C p.(Arg1039Thr) NC_000018.10:13053016:G:C Identity +NM_153361.4:c.140C>G NP_699192.1:p.Pro47Arg NC_000005.10:43245914:C:G p.(Pro47Arg) NC_000005.10:43245914:C:G p.(Pro47Arg) NC_000005.10:43245914:C:G Identity +NM_001261419.2:c.738A>G NP_001248348.1:p.Ile246Met NC_000002.12:102022235:A:G p.(Ile246Met) NC_000002.12:102022235:A:G p.(Ile246Met) NC_000002.12:102022235:A:G Identity +NM_001195381.3:c.592C>T NP_001182310.1:p.Arg198Trp NC_000002.12:240630450:C:T p.(Arg198Trp) NC_000002.12:240630450:C:T p.(Arg198Trp) NC_000002.12:240630450:C:T Identity +NM_017780.4:c.1724G>C NP_060250.2:p.Gly575Ala NC_000008.11:60781057:G:C p.(Gly575Ala) NC_000008.11:60781057:G:C p.(Gly575Ala) NC_000008.11:60781057:G:C Identity +NM_173558.4:c.358C>T NP_775829.2:p.Arg120Cys NC_000006.12:37011029:C:T p.(Arg120Cys) NC_000006.12:37011029:C:T p.(Arg120Cys) NC_000006.12:37011029:C:T Identity +NM_001145353.1:c.1039G>A NP_001138825.1:p.Val347Met NC_000013.11:40941065:C:T p.(Val347Met) NC_000013.11:40941065:C:T p.(Val347Met) NC_000013.11:40941065:C:T Identity +NM_001368073.2:c.1822dup NP_001355002.1:p.Thr608fs NC_000015.10:56095614:TTTT:TTTTT p.(Thr608AsnfsTer12) NC_000015.10:56095614:TTTT:TTTTT p.(Thr608AsnfsTer12) ERR:SPDI Analogous +NM_001039775.4:c.1067G>A NP_001034864.2:p.Arg356Lys NC_000001.11:26345590:C:T p.(Arg356Lys) NC_000001.11:26345590:C:T p.(Arg356Lys) NC_000001.11:26345590:C:T Identity +NM_001185099.2:c.569C>T NP_001172028.1:p.Ser190Leu NC_000019.10:35336191:C:T p.(Ser190Leu) NC_000019.10:35336191:C:T p.(Ser190Leu) NC_000019.10:35336191:C:T Identity +NM_001135919.2:c.1028C>T NP_001129391.1:p.Ala343Val NC_000013.11:28712711:G:A p.(Ala343Val) NC_000013.11:28712711:G:A p.(Ala343Val) NC_000013.11:28712711:G:A Identity +NM_001322246.3:c.2798G>A NP_001309175.1:p.Arg933Gln NC_000004.12:61979758:G:A p.(Arg933Gln) NC_000004.12:61979758:G:A p.(Arg933Gln) NC_000004.12:61979758:G:A Identity +NM_001363562.2:c.332C>T NP_001350491.1:p.Ala111Val NC_000007.14:19725640:G:A p.(Ala111Val) NC_000007.14:19725640:G:A p.(Ala111Val) NC_000007.14:19725640:G:A Identity +NM_001303270.2:c.517C>T NP_001290199.1:p.Arg173Trp NC_000017.11:7733203:C:T p.(Arg173Trp) NC_000017.11:7733203:C:T p.(Arg173Trp) NC_000017.11:7733203:C:T Identity +NM_178510.2:c.1016G>A NP_848605.1:p.Arg339Gln NC_000011.10:113398984:G:A p.(Arg339Gln) NC_000011.10:113398984:G:A p.(Arg339Gln) NC_000011.10:113398984:G:A Identity +NM_001145160.2:c.545G>T NP_001138632.1:p.Arg182Leu NC_000019.10:16088078:G:T p.(Arg182Leu) NC_000019.10:16088078:G:T p.(Arg182Leu) NC_000019.10:16088078:G:T Identity +NM_014157.4:c.260C>G NP_054876.2:p.Thr87Arg NC_000016.10:58254028:C:G p.(Thr87Arg) NC_000016.10:58254028:C:G p.(Thr87Arg) NC_000016.10:58254028:C:G Identity +NM_001286581.2:c.2164C>A NP_001273510.1:p.Gln722Lys NC_000011.10:607619:C:A p.(Gln722Lys) NC_000011.10:607619:C:A p.(Gln722Lys) NC_000011.10:607619:C:A Identity +NM_178491.4:c.517G>A NP_848586.1:p.Val173Met NC_000020.11:44345265:G:A p.(Val173Met) NC_000020.11:44345265:G:A p.(Val173Met) NC_000020.11:44345265:G:A Identity +NM_001362965.2:c.290G>A NP_001349894.1:p.Gly97Asp NC_000008.11:138265709:C:T p.(Gly97Asp) NC_000008.11:138265709:C:T p.(Gly97Asp) NC_000008.11:138265709:C:T Identity +NM_001286625.1:c.779C>T NP_001273554.1:p.Pro260Leu NC_000016.10:2255623:G:A p.(Pro260Leu) NC_000016.10:2255623:G:A p.(Pro260Leu) NC_000016.10:2255623:G:A Identity +NM_033449.3:c.1697G>A NP_258260.1:p.Ser566Asn NC_000005.10:141644383:C:T p.(Ser566Asn) NC_000005.10:141644383:C:T p.(Ser566Asn) NC_000005.10:141644383:C:T Identity +NM_173651.4:c.3365C>G NP_775922.3:p.Ser1122Cys NC_000002.12:185790500:C:G p.(Ser1122Cys) NC_000002.12:185790500:C:G p.(Ser1122Cys) NC_000002.12:185790500:C:G Identity +NM_032559.5:c.980G>T NP_115948.4:p.Gly327Val NC_000017.11:53824012:G:T p.(Gly327Val) NC_000017.11:53824012:G:T p.(Gly327Val) NC_000017.11:53824012:G:T Identity +NM_001109619.4:c.53G>A NP_001103089.1:p.Arg18Gln NC_000012.12:50954050:G:A p.(Arg18Gln) NC_000012.12:50954050:G:A p.(Arg18Gln) NC_000012.12:50954050:G:A Identity +NM_001371395.1:c.1577G>A NP_001358324.1:p.Arg526Gln NC_000004.12:119271436:G:A p.(Arg526Gln) NC_000004.12:119271436:G:A p.(Arg526Gln) NC_000004.12:119271436:G:A Identity +NM_001243088.2:c.1294G>A NP_001230017.1:p.Gly432Arg NC_000012.12:2859590:C:T p.(Gly432Arg) NC_000012.12:2859590:C:T p.(Gly432Arg) NC_000012.12:2859590:C:T Identity +NM_030768.3:c.172G>A NP_110395.1:p.Asp58Asn NC_000002.12:238194280:C:T p.(Asp58Asn) NC_000002.12:238194280:C:T p.(Asp58Asn) NC_000002.12:238194280:C:T Identity +NM_014388.7:c.1691T>C NP_055203.4:p.Met564Thr NC_000001.11:209842604:T:C p.(Met564Thr) NC_000001.11:209842604:T:C p.(Met564Thr) NC_000001.11:209842604:T:C Identity +NM_031231.4:c.61C>T NP_112508.3:p.Pro21Ser NC_000020.11:33674291:G:A p.(Pro21Ser) NC_000020.11:33674291:G:A p.(Pro21Ser) NC_000020.11:33674291:G:A Identity +NM_032836.3:c.658G>A NP_116225.2:p.Ala220Thr NC_000019.10:55593282:C:T p.(Ala220Thr) NC_000019.10:55593282:C:T p.(Ala220Thr) NC_000019.10:55593282:C:T Identity +NM_001200047.3:c.185C>T NP_001186976.1:p.Ala62Val NC_000003.12:139561316:G:A p.(Ala62Val) NC_000003.12:139561316:G:A p.(Ala62Val) NC_000003.12:139561316:G:A Identity +NM_178448.4:c.691C>G NP_848543.2:p.Gln231Glu NC_000009.12:137065661:G:C p.(Gln231Glu) NC_000009.12:137065661:G:C p.(Gln231Glu) NC_000009.12:137065661:G:C Identity +NM_001001958.1:c.295A>T NP_001001958.1:p.Thr99Ser NC_000019.10:9126655:T:A p.(Thr99Ser) NC_000019.10:9126655:T:A p.(Thr99Ser) NC_000019.10:9126655:T:A Identity +NM_001193511.2:c.1721G>A NP_001180440.1:p.Arg574His NC_000012.12:53483081:C:T p.(Arg574His) NC_000012.12:53483081:C:T p.(Arg574His) NC_000012.12:53483081:C:T Identity +NM_001012239.1:c.1168G>A NP_001012239.1:p.Val390Met NC_000008.11:10898709:C:T ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found +NM_001099406.2:c.1100G>T NP_001092876.1:p.Gly367Val NC_000018.10:36111248:C:A p.(Gly367Val) NC_000018.10:36111248:C:A p.(Gly367Val) NC_000018.10:36111248:C:A Identity +NM_001316996.2:c.1348A>G NP_001303925.1:p.Thr450Ala NC_000019.10:22089193:A:G p.(Thr450Ala) NC_000019.10:22089193:A:G p.(Thr450Ala) NC_000019.10:22089193:A:G Identity +NM_001204269.2:c.997G>A NP_001191198.1:p.Val333Ile NC_000001.11:110602067:C:T p.(Val333Ile) NC_000001.11:110602067:C:T p.(Val333Ile) NC_000001.11:110602067:C:T Identity +NM_001370145.1:c.1928G>T NP_001357074.1:p.Gly643Val NC_000012.12:7487480:C:A p.(Gly643Val) NC_000012.12:7487480:C:A p.(Gly643Val) NC_000012.12:7487480:C:A Identity +NM_001324081.1:c.1031C>T NP_001311010.1:p.Pro344Leu NC_000016.10:1777133:G:A p.(Pro344Leu) NC_000016.10:1777133:G:A p.(Pro344Leu) NC_000016.10:1777133:G:A Identity +NM_001321431.2:c.7850G>A NP_001308360.1:p.Arg2617Gln NC_000019.10:8073149:C:T p.(Arg2617Gln) NC_000019.10:8073149:C:T p.(Arg2617Gln) NC_000019.10:8073149:C:T Identity +NM_001105193.2:c.400C>G NP_001098663.1:p.Pro134Ala NC_000002.12:130762471:C:G p.(Pro134Ala) NC_000002.12:130762471:C:G p.(Pro134Ala) NC_000002.12:130762471:C:G Identity +NM_001257999.3:c.761A>G NP_001244928.1:p.Lys254Arg NC_000017.11:4208029:T:C p.(Lys254Arg) NC_000017.11:4208029:T:C p.(Lys254Arg) NC_000017.11:4208029:T:C Identity +NM_006788.4:c.1859C>T NP_006779.1:p.Pro620Leu NC_000018.10:9535827:C:T p.(Pro620Leu) NC_000018.10:9535827:C:T p.(Pro620Leu) NC_000018.10:9535827:C:T Identity +NM_001288791.2:c.431C>T NP_001275720.1:p.Ala144Val NC_000019.10:54040976:G:A p.(Ala144Val) NC_000019.10:54040976:G:A p.(Ala144Val) NC_000019.10:54040976:G:A Identity +NM_001004320.2:c.1116T>G NP_001004320.1:p.Ile372Met NC_000007.14:15366180:A:C p.(Ile372Met) NC_000007.14:15366180:A:C p.(Ile372Met) NC_000007.14:15366180:A:C Identity +NM_001146312.3:c.2792C>G NP_001139784.1:p.Thr931Ser NC_000017.11:12763474:C:G p.(Thr931Ser) NC_000017.11:12763474:C:G p.(Thr931Ser) NC_000017.11:12763474:C:G Identity +NM_001317238.2:c.1495A>G NP_001304167.1:p.Lys499Glu NC_000001.11:1495502:A:G p.(Lys499Glu) NC_000001.11:1495502:A:G p.(Lys499Glu) NC_000001.11:1495502:A:G Identity +NM_001378620.1:c.760T>C NP_001365549.1:p.Phe254Leu NC_000014.9:92449095:T:C p.(Phe254Leu) NC_000014.9:92449095:T:C p.(Phe254Leu) NC_000014.9:92449095:T:C Identity +NM_001012302.3:c.491G>C NP_001012302.2:p.Trp164Ser NC_000011.10:431741:C:G p.(Trp164Ser) NC_000011.10:431741:C:G p.(Trp164Ser) NC_000011.10:431741:C:G Identity +NM_001204425.2:c.2669A>T NP_001191354.2:p.Asp890Val NC_000013.11:102862455:A:T p.(Asp890Val) NC_000013.11:102862455:A:T p.(Asp890Val) NC_000013.11:102862455:A:T Identity +NM_001413738.1:c.2027A>G NP_001400667.1:p.Lys676Arg NC_000012.12:8933997:A:G p.(Lys676Arg) NC_000012.12:8933997:A:G p.(Lys676Arg) NC_000012.12:8933997:A:G Identity +NM_001258290.2:c.2453C>G NP_001245219.1:p.Thr818Ser NC_000016.10:31139237:G:C p.(Thr818Ser) NC_000016.10:31139237:G:C p.(Thr818Ser) NC_000016.10:31139237:G:C Identity +NM_173628.4:c.8527C>G NP_775899.3:p.Gln2843Glu NC_000017.11:78468867:G:C p.(Gln2843Glu) NC_000017.11:78468867:G:C p.(Gln2843Glu) NC_000017.11:78468867:G:C Identity +NM_201563.5:c.530C>T NP_963857.3:p.Ser177Leu NC_000001.11:161591281:C:T ERR:Data provider error: ValueError: Transcript NM_201563.5 not found ERR:Data provider error: ValueError: Transcript NM_201563.5 not found ERR:AlignmentMapper(tx_ac=NM_201563.5, alt_ac=NM_201563.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_201563.5, alt_ac=NM_201563.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_201563.5 not found +NM_002705.5:c.355G>A NP_002696.4:p.Gly119Arg NC_000016.10:4902488:C:T p.(Gly119Arg) NC_000016.10:4902488:C:T p.(Gly119Arg) NC_000016.10:4902488:C:T Identity +NM_001276418.2:c.3760G>A NP_001263347.1:p.Asp1254Asn NC_000009.12:136468456:C:T p.(Asp1254Asn) NC_000009.12:136468456:C:T p.(Asp1254Asn) NC_000009.12:136468456:C:T Identity +NM_001349303.2:c.292C>A NP_001336232.1:p.Gln98Lys NC_000005.10:95675413:G:T p.(Gln98Lys) NC_000005.10:95675413:G:T p.(Gln98Lys) NC_000005.10:95675413:G:T Identity +NM_145111.4:c.181T>G NP_659802.1:p.Leu61Val NC_000007.14:99548226:A:C p.(Leu61Val) NC_000007.14:99548226:A:C p.(Leu61Val) NC_000007.14:99548226:A:C Identity +NM_207305.5:c.499C>T NP_997188.2:p.Arg167Cys NC_000009.12:117620:G:A p.(Arg167Cys) NC_000009.12:117620:G:A p.(Arg167Cys) NC_000009.12:117620:G:A Identity +NM_001010972.2:c.710A>T NP_001010972.1:p.His237Leu NC_000007.14:143383008:A:T p.(His237Leu) NC_000007.14:143383008:A:T p.(His237Leu) NC_000007.14:143383008:A:T Identity +NM_001367971.1:c.5026G>A NP_001354900.1:p.Val1676Ile NC_000011.10:64897687:C:T p.(Val1676Ile) NC_000011.10:64897687:C:T p.(Val1676Ile) NC_000011.10:64897687:C:T Identity +NM_173593.4:c.1787C>A NP_775864.3:p.Ala596Asp NC_000012.12:553709:C:A p.(Ala596Asp) NC_000012.12:553709:C:A p.(Ala596Asp) NC_000012.12:553709:C:A Identity +NM_001184728.3:c.1546G>A NP_001171657.1:p.Ala516Thr NC_000020.11:45425802:G:A p.(Ala516Thr) NC_000020.11:45425802:G:A p.(Ala516Thr) NC_000020.11:45425802:G:A Identity +NM_001010855.4:c.142G>A NP_001010855.1:p.Gly48Ser NC_000017.11:8838610:C:T p.(Gly48Ser) NC_000017.11:8838610:C:T p.(Gly48Ser) NC_000017.11:8838610:C:T Identity +NM_001411058.1:c.4258A>T NP_001397987.1:p.Arg1420Trp NC_000010.11:103440398:A:T p.(Arg1420Trp) NC_000010.11:103440398:A:T p.(Arg1420Trp) NC_000010.11:103440398:A:T Identity +NM_001167830.2:c.386T>A NP_001161302.1:p.Met129Lys NC_000001.11:93156384:A:T p.(Met129Lys) NC_000001.11:93156384:A:T p.(Met129Lys) NC_000001.11:93156384:A:T Identity +NM_001819.3:c.376G>A NP_001810.2:p.Gly126Arg NC_000020.11:5922519:G:A p.(Gly126Arg) NC_000020.11:5922519:G:A p.(Gly126Arg) NC_000020.11:5922519:G:A Identity +NM_015473.4:c.629T>C NP_056288.2:p.Phe210Ser NC_000014.9:31394194:A:G p.(Phe210Ser) NC_000014.9:31394194:A:G p.(Phe210Ser) NC_000014.9:31394194:A:G Identity +NM_002422.5:c.809C>T NP_002413.1:p.Pro270Leu NC_000011.10:102840233:G:A p.(Pro270Leu) NC_000011.10:102840233:G:A p.(Pro270Leu) NC_000011.10:102840233:G:A Identity +NM_001204504.3:c.2255C>T NP_001191433.1:p.Thr752Met NC_000013.11:42198564:C:T p.(Thr752Met) NC_000013.11:42198564:C:T p.(Thr752Met) NC_000013.11:42198564:C:T Identity +NM_001256303.2:c.295A>G NP_001243232.1:p.Thr99Ala NC_000002.12:25628237:T:C p.(Thr99Ala) NC_000002.12:25628237:T:C p.(Thr99Ala) NC_000002.12:25628237:T:C Identity +NM_001370125.1:c.267C>A NP_001357054.1:p.Ser89Arg NC_000019.10:51032065:G:T p.(Ser89Arg) NC_000019.10:51032065:G:T p.(Ser89Arg) NC_000019.10:51032065:G:T Identity +NM_001322.3:c.47C>T NP_001313.1:p.Ala16Val NC_000020.11:23826613:G:A p.(Ala16Val) NC_000020.11:23826613:G:A p.(Ala16Val) NC_000020.11:23826613:G:A Identity +NM_001131067.1:c.415G>A NP_001124539.1:p.Gly139Ser NC_000019.10:45153382:C:T ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found +NM_001350001.2:c.1412A>G NP_001336930.1:p.Gln471Arg NC_000010.11:30028321:T:C p.(Gln471Arg) NC_000010.11:30028321:T:C p.(Gln471Arg) NC_000010.11:30028321:T:C Identity +NM_001286643.1:c.181T>C NP_001273572.1:p.Tyr61His NC_000008.11:96258509:A:G p.(Tyr61His) NC_000008.11:96258509:A:G p.(Tyr61His) NC_000008.11:96258509:A:G Identity +NM_177998.3:c.764C>T NP_819056.1:p.Thr255Met NC_000004.12:4198069:G:A p.(Thr255Met) NC_000004.12:4198069:G:A p.(Thr255Met) NC_000004.12:4198069:G:A Identity +NM_001382708.1:c.68G>A NP_001369637.1:p.Gly23Asp NC_000002.12:219418529:G:A p.(Gly23Asp) NC_000002.12:219418529:G:A p.(Gly23Asp) NC_000002.12:219418529:G:A Identity +NM_001252338.2:c.2509G>A NP_001239267.1:p.Gly837Ser NC_000020.11:61936811:G:A p.(Gly837Ser) NC_000020.11:61936811:G:A p.(Gly837Ser) NC_000020.11:61936811:G:A Identity +NM_001150.3:c.247G>T NP_001141.2:p.Asp83Tyr NC_000015.10:89806336:C:A p.(Asp83Tyr) NC_000015.10:89806336:C:A p.(Asp83Tyr) NC_000015.10:89806336:C:A Identity +NM_001099432.3:c.911C>T NP_001092902.1:p.Ala304Val NC_000017.11:60910619:C:T p.(Ala304Val) NC_000017.11:60910619:C:T p.(Ala304Val) NC_000017.11:60910619:C:T Identity +NM_001302770.2:c.73A>C NP_001289699.1:p.Ser25Arg NC_000004.12:69960057:T:G p.(Ser25Arg) NC_000004.12:69960057:T:G p.(Ser25Arg) NC_000004.12:69960057:T:G Identity +NM_001351301.3:c.560G>A NP_001338230.1:p.Arg187His NC_000017.11:29615975:C:T p.(Arg187His) NC_000017.11:29615975:C:T p.(Arg187His) NC_000017.11:29615975:C:T Identity +NM_001377960.1:c.268C>T NP_001364889.1:p.Arg90Cys NC_000008.11:93736142:G:A p.(Arg90Cys) NC_000008.11:93736142:G:A p.(Arg90Cys) NC_000008.11:93736142:G:A Identity +NM_001317950.2:c.2246A>T NP_001304879.1:p.His749Leu NC_000009.12:114359940:T:A p.(His749Leu) NC_000009.12:114359940:T:A p.(His749Leu) NC_000009.12:114359940:T:A Identity +NM_001125.4:c.831T>G NP_001116.1:p.Ile277Met NC_000003.12:119587634:T:G p.(Ile277Met) NC_000003.12:119587634:T:G p.(Ile277Met) NC_000003.12:119587634:T:G Identity +NM_000144.5:c.412G>A NP_000135.2:p.Gly138Arg NC_000009.12:69064964:G:A p.(Gly138Arg) NC_000009.12:69064964:G:A p.(Gly138Arg) NC_000009.12:69064964:G:A Identity +NM_001283034.2:c.352A>C NP_001269963.1:p.Thr118Pro NC_000008.11:93704929:A:C p.(Thr118Pro) NC_000008.11:93704929:A:C p.(Thr118Pro) NC_000008.11:93704929:A:C Identity +NM_001005281.3:c.742A>G NP_001005281.1:p.Ile248Val NC_000007.14:144004737:A:G p.(Ile248Val) NC_000007.14:144004737:A:G p.(Ile248Val) NC_000007.14:144004737:A:G Identity +NM_015054.2:c.3724G>A NP_055869.1:p.Asp1242Asn NC_000012.12:100048190:C:T p.(Asp1242Asn) NC_000012.12:100048190:C:T p.(Asp1242Asn) NC_000012.12:100048190:C:T Identity +NM_001039948.4:c.2812C>T NP_001035037.1:p.Arg938Cys NC_000022.11:24901868:C:T p.(Arg938Cys) NC_000022.11:24901868:C:T p.(Arg938Cys) NC_000022.11:24901868:C:T Identity +NM_001135032.2:c.56A>G NP_001128504.1:p.Asn19Ser NC_000002.12:75518084:T:C p.(Asn19Ser) NC_000002.12:75518084:T:C p.(Asn19Ser) NC_000002.12:75518084:T:C Identity +NM_001375442.1:c.803T>C NP_001362371.1:p.Leu268Ser NC_000002.12:48374949:T:C p.(Leu268Ser) NC_000002.12:48374949:T:C p.(Leu268Ser) NC_000002.12:48374949:T:C Identity +NM_022453.3:c.1100G>A NP_071898.2:p.Arg367His NC_000002.12:218664236:C:T p.(Arg367His) NC_000002.12:218664236:C:T p.(Arg367His) NC_000002.12:218664236:C:T Identity +NM_003196.3:c.809T>C NP_003187.1:p.Met270Thr NC_000001.11:23393888:A:G p.(Met270Thr) NC_000001.11:23393888:A:G p.(Met270Thr) NC_000001.11:23393888:A:G Identity +NM_001365758.1:c.1031G>A NP_001352687.1:p.Arg344His NC_000017.11:56456887:G:A p.(Arg344His) NC_000017.11:56456887:G:A p.(Arg344His) NC_000017.11:56456887:G:A Identity +NM_001122824.2:c.334G>A NP_001116296.1:p.Glu112Lys NC_000008.11:38827278:G:A p.(Glu112Lys) NC_000008.11:38827278:G:A p.(Glu112Lys) NC_000008.11:38827278:G:A Identity +NM_002472.3:c.3684G>C NP_002463.2:p.Lys1228Asn NC_000017.11:10400440:C:G p.(Lys1228Asn) NC_000017.11:10400440:C:G p.(Lys1228Asn) NC_000017.11:10400440:C:G Identity +NM_001387280.1:c.734T>A NP_001374209.1:p.Leu245His NC_000001.11:159307891:T:A p.(Leu245His) NC_000001.11:159307891:T:A p.(Leu245His) NC_000001.11:159307891:T:A Identity +NM_001100409.3:c.758C>T NP_001093879.1:p.Ser253Phe NC_000006.12:75663302:C:T p.(Ser253Phe) NC_000006.12:75663302:C:T p.(Ser253Phe) NC_000006.12:75663302:C:T Identity +NM_001039775.4:c.2488G>A NP_001034864.2:p.Glu830Lys NC_000001.11:26344169:C:T p.(Glu830Lys) NC_000001.11:26344169:C:T p.(Glu830Lys) NC_000001.11:26344169:C:T Identity +NM_138571.5:c.164G>A NP_612638.3:p.Gly55Glu NC_000006.12:125957140:G:A p.(Gly55Glu) NC_000006.12:125957140:G:A p.(Gly55Glu) NC_000006.12:125957140:G:A Identity +NM_001365906.3:c.244G>A NP_001352835.1:p.Gly82Ser NC_000014.9:73246084:G:A p.(Gly82Ser) NC_000014.9:73246084:G:A p.(Gly82Ser) NC_000014.9:73246084:G:A Identity +NM_000961.4:c.1382A>C NP_000952.1:p.His461Pro NC_000020.11:49508040:T:G p.(His461Pro) NC_000020.11:49508040:T:G p.(His461Pro) NC_000020.11:49508040:T:G Identity +NM_001113528.2:c.403T>C NP_001107000.1:p.Tyr135His NC_000011.10:28211193:T:C p.(Tyr135His) NC_000011.10:28211193:T:C p.(Tyr135His) NC_000011.10:28211193:T:C Identity +NM_001288727.2:c.1835T>C NP_001275656.1:p.Val612Ala NC_000010.11:102140342:T:C p.(Val612Ala) NC_000010.11:102140342:T:C p.(Val612Ala) NC_000010.11:102140342:T:C Identity +NM_004354.3:c.499A>G NP_004345.1:p.Thr167Ala NC_000004.12:77160942:A:G p.(Thr167Ala) NC_000004.12:77160942:A:G p.(Thr167Ala) NC_000004.12:77160942:A:G Identity +NM_002705.5:c.2842G>A NP_002696.4:p.Glu948Lys NC_000016.10:4885812:C:T p.(Glu948Lys) NC_000016.10:4885812:C:T p.(Glu948Lys) NC_000016.10:4885812:C:T Identity +NM_001297704.3:c.1237C>G NP_001284633.1:p.Leu413Val NC_000001.11:81950226:C:G p.(Leu413Val) NC_000001.11:81950226:C:G p.(Leu413Val) NC_000001.11:81950226:C:G Identity +NM_175918.3:c.98C>T NP_787114.2:p.Pro33Leu NC_000004.12:1394608:C:T ERR:Data provider error: ValueError: Transcript NM_175918.3 not found ERR:Data provider error: ValueError: Transcript NM_175918.3 not found ERR:AlignmentMapper(tx_ac=NM_175918.3, alt_ac=NM_175918.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_175918.3, alt_ac=NM_175918.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_175918.3 not found +NM_001135865.3:c.1109C>T NP_001129337.1:p.Ala370Val NC_000016.10:22534091:C:T p.(Ala370Val) NC_000016.10:22534091:C:T p.(Ala370Val) NC_000016.10:22534091:C:T Identity +NM_001410699.1:c.706C>T NP_001397628.1:p.Arg236Trp NC_000004.12:1737277:C:T p.(Arg236Trp) NC_000004.12:1737277:C:T p.(Arg236Trp) NC_000004.12:1737277:C:T Identity +NM_173588.4:c.2280C>A NP_775859.4:p.Asn760Lys NC_000011.10:18712199:G:T p.(Asn760Lys) NC_000011.10:18712199:G:T p.(Asn760Lys) NC_000011.10:18712199:G:T Identity +NM_001146684.3:c.248A>G NP_001140156.1:p.Lys83Arg NC_000017.11:8393213:T:C p.(Lys83Arg) NC_000017.11:8393213:T:C p.(Lys83Arg) NC_000017.11:8393213:T:C Identity +NM_001254752.2:c.16G>T NP_001241681.1:p.Ala6Ser NC_000008.11:96235514:C:A p.(Ala6Ser) NC_000008.11:96235514:C:A p.(Ala6Ser) NC_000008.11:96235514:C:A Identity +NM_006461.4:c.1060G>C NP_006452.3:p.Val354Leu NC_000017.11:28592183:C:G p.(Val354Leu) NC_000017.11:28592183:C:G p.(Val354Leu) NC_000017.11:28592183:C:G Identity +NM_001099282.2:c.533C>G NP_001092752.1:p.Pro178Arg NC_000010.11:43557546:G:C p.(Pro178Arg) NC_000010.11:43557546:G:C p.(Pro178Arg) NC_000010.11:43557546:G:C Identity +NM_001008800.3:c.1232G>A NP_001008800.1:p.Arg411His NC_000001.11:156311004:C:T p.(Arg411His) NC_000001.11:156311004:C:T p.(Arg411His) NC_000001.11:156311004:C:T Identity +NM_016071.4:c.85A>G NP_057155.1:p.Lys29Glu NC_000007.14:141010548:T:C p.(Lys29Glu) NC_000007.14:141010548:T:C p.(Lys29Glu) NC_000007.14:141010548:T:C Identity +NM_198689.3:c.965G>A NP_941962.1:p.Cys322Tyr NC_000021.9:44601585:G:A p.(Cys322Tyr) NC_000021.9:44601585:G:A p.(Cys322Tyr) NC_000021.9:44601585:G:A Identity +NM_138295.5:c.5980A>G NP_612152.1:p.Arg1994Gly NC_000007.14:47835206:T:C p.(Arg1994Gly) NC_000007.14:47835206:T:C p.(Arg1994Gly) NC_000007.14:47835206:T:C Identity +NM_001102562.3:c.55G>T NP_001096032.1:p.Asp19Tyr NC_000005.10:16179520:C:A p.(Asp19Tyr) NC_000005.10:16179520:C:A p.(Asp19Tyr) NC_000005.10:16179520:C:A Identity +NM_018241.3:c.833A>G NP_060711.2:p.His278Arg NC_000004.12:147632955:A:G p.(His278Arg) NC_000004.12:147632955:A:G p.(His278Arg) NC_000004.12:147632955:A:G Identity +NM_001349303.2:c.253A>G NP_001336232.1:p.Arg85Gly NC_000005.10:95675452:T:C p.(Arg85Gly) NC_000005.10:95675452:T:C p.(Arg85Gly) NC_000005.10:95675452:T:C Identity +NM_001345934.2:c.446G>A NP_001332863.1:p.Arg149Gln NC_000009.12:136755287:C:T p.(Arg149Gln) NC_000009.12:136755287:C:T p.(Arg149Gln) NC_000009.12:136755287:C:T Identity +NM_001411052.1:c.3010A>C NP_001397981.1:p.Lys1004Gln NC_000014.9:74810319:A:C p.(Lys1004Gln) NC_000014.9:74810319:A:C p.(Lys1004Gln) NC_000014.9:74810319:A:C Identity +NM_001350888.2:c.1418G>T NP_001337817.1:p.Cys473Phe NC_000014.9:96471537:G:T p.(Cys473Phe) NC_000014.9:96471537:G:T p.(Cys473Phe) NC_000014.9:96471537:G:T Identity +NM_001318469.2:c.83C>G NP_001305398.1:p.Ser28Cys NC_000016.10:75166836:C:G p.(Ser28Cys) NC_000016.10:75166836:C:G p.(Ser28Cys) NC_000016.10:75166836:C:G Identity +NM_001350042.2:c.484T>C NP_001336971.1:p.Ser162Pro NC_000022.11:40405702:T:C p.(Ser162Pro) NC_000022.11:40405702:T:C p.(Ser162Pro) NC_000022.11:40405702:T:C Identity +NM_014872.3:c.56T>G NP_055687.1:p.Leu19Arg NC_000009.12:37442495:A:C p.(Leu19Arg) NC_000009.12:37442495:A:C p.(Leu19Arg) NC_000009.12:37442495:A:C Identity +NM_001281450.1:c.226G>A NP_001268379.1:p.Glu76Lys NC_000007.14:73324561:C:T p.(Glu76Lys) NC_000007.14:73324561:C:T p.(Glu76Lys) NC_000007.14:73324561:C:T Identity +NM_175066.4:c.181G>C NP_778236.2:p.Glu61Gln NC_000012.12:132144115:C:G p.(Glu61Gln) NC_000012.12:132144115:C:G p.(Glu61Gln) NC_000012.12:132144115:C:G Identity +NM_031280.4:c.685G>T NP_112570.2:p.Ala229Ser NC_000001.11:36455876:C:A p.(Ala229Ser) NC_000001.11:36455876:C:A p.(Ala229Ser) NC_000001.11:36455876:C:A Identity +NM_018918.3:c.2350A>T NP_061741.1:p.Ser784Cys NC_000005.10:141366679:A:T p.(Ser784Cys) NC_000005.10:141366679:A:T p.(Ser784Cys) NC_000005.10:141366679:A:T Identity +NM_001168331.2:c.15G>C NP_001161803.1:p.Lys5Asn NC_000003.12:120596373:G:C p.(Lys5Asn) NC_000003.12:120596373:G:C p.(Lys5Asn) NC_000003.12:120596373:G:C Identity +NM_001042762.5:c.913G>A NP_001036227.1:p.Asp305Asn NC_000007.14:50446374:C:T p.(Asp305Asn) NC_000007.14:50446374:C:T p.(Asp305Asn) NC_000007.14:50446374:C:T Identity +NM_001346505.2:c.3281G>A NP_001333434.1:p.Arg1094Gln NC_000006.12:148546081:G:A p.(Arg1094Gln) NC_000006.12:148546081:G:A p.(Arg1094Gln) NC_000006.12:148546081:G:A Identity +NM_006660.5:c.1841A>G NP_006651.2:p.Glu614Gly NC_000015.10:65150883:T:C p.(Glu614Gly) NC_000015.10:65150883:T:C p.(Glu614Gly) NC_000015.10:65150883:T:C Identity +NM_021794.4:c.790G>A NP_068566.2:p.Val264Ile NC_000001.11:119895546:C:T p.(Val264Ile) NC_000001.11:119895546:C:T p.(Val264Ile) NC_000001.11:119895546:C:T Identity +NM_004886.4:c.1123G>A NP_004877.1:p.Ala375Thr NC_000019.10:3752878:C:T p.(Ala375Thr) NC_000019.10:3752878:C:T p.(Ala375Thr) NC_000019.10:3752878:C:T Identity +NM_001146202.2:c.1406G>A NP_001139674.1:p.Arg469Gln NC_000019.10:38413017:C:T p.(Arg469Gln) NC_000019.10:38413017:C:T p.(Arg469Gln) NC_000019.10:38413017:C:T Identity +NM_001308317.2:c.494C>T NP_001295246.1:p.Thr165Met NC_000003.12:123947053:G:A p.(Thr165Met) NC_000003.12:123947053:G:A p.(Thr165Met) NC_000003.12:123947053:G:A Identity +NM_001137608.3:c.982C>T NP_001131080.1:p.His328Tyr NC_000004.12:271874:G:A p.(His328Tyr) NC_000004.12:271874:G:A p.(His328Tyr) NC_000004.12:271874:G:A Identity +NM_198694.3:c.518A>G NP_941967.3:p.Tyr173Cys NC_000021.9:44580060:T:C p.(Tyr173Cys) NC_000021.9:44580060:T:C p.(Tyr173Cys) NC_000021.9:44580060:T:C Identity +NM_001302378.2:c.743G>A NP_001289307.1:p.Arg248Gln NC_000003.12:15082463:C:T p.(Arg248Gln) NC_000003.12:15082463:C:T p.(Arg248Gln) NC_000003.12:15082463:C:T Identity +NM_001256074.3:c.1246C>A NP_001243003.1:p.Leu416Ile NC_000004.12:108859672:G:T p.(Leu416Ile) NC_000004.12:108859672:G:T p.(Leu416Ile) NC_000004.12:108859672:G:T Identity +NM_001324062.2:c.421T>G NP_001310991.1:p.Leu141Val NC_000001.11:222627640:T:G p.(Leu141Val) NC_000001.11:222627640:T:G p.(Leu141Val) NC_000001.11:222627640:T:G Identity +NM_013940.4:c.676A>G NP_039228.1:p.Ile226Val NC_000019.10:15807361:T:C p.(Ile226Val) NC_000019.10:15807361:T:C p.(Ile226Val) NC_000019.10:15807361:T:C Identity +NM_001146162.1:c.17C>T NP_001139634.1:p.Thr6Met NC_000011.10:89710314:C:T p.(Thr6Met) NC_000011.10:89710314:C:T p.(Thr6Met) NC_000011.10:89710314:C:T Identity +NM_001134473.3:c.2131C>T NP_001127945.1:p.Arg711Trp NC_000016.10:85663412:C:T p.(Arg711Trp) NC_000016.10:85663412:C:T p.(Arg711Trp) NC_000016.10:85663412:C:T Identity +NM_020402.4:c.355T>C NP_065135.2:p.Tyr119His NC_000011.10:3669202:A:G p.(Tyr119His) NC_000011.10:3669202:A:G p.(Tyr119His) NC_000011.10:3669202:A:G Identity +NM_001127457.3:c.1358G>A NP_001120929.1:p.Arg453Gln NC_000011.10:45870523:G:A p.(Arg453Gln) NC_000011.10:45870523:G:A p.(Arg453Gln) NC_000011.10:45870523:G:A Identity +NM_001100619.3:c.1423G>A NP_001094089.1:p.Val475Ile NC_000018.10:23237221:G:A p.(Val475Ile) NC_000018.10:23237221:G:A p.(Val475Ile) NC_000018.10:23237221:G:A Identity +NM_001012302.3:c.2299G>A NP_001012302.2:p.Ala767Thr NC_000011.10:418420:C:T p.(Ala767Thr) NC_000011.10:418420:C:T p.(Ala767Thr) NC_000011.10:418420:C:T Identity +NM_001331164.2:c.473G>T NP_001318093.1:p.Arg158Leu NC_000014.9:59483843:C:A p.(Arg158Leu) NC_000014.9:59483843:C:A p.(Arg158Leu) NC_000014.9:59483843:C:A Identity +NM_001005369.1:c.1061C>T NP_001005369.1:p.Pro354Leu NC_000002.12:55246381:G:A p.(Pro354Leu) NC_000002.12:55246381:G:A p.(Pro354Leu) NC_000002.12:55246381:G:A Identity +NM_032211.7:c.1643T>G NP_115587.6:p.Leu548Trp NC_000010.11:98253744:A:C p.(Leu548Trp) NC_000010.11:98253744:A:C p.(Leu548Trp) NC_000010.11:98253744:A:C Identity +NM_020737.3:c.1852G>T NP_065788.1:p.Ala618Ser NC_000006.12:40392460:C:A p.(Ala618Ser) NC_000006.12:40392460:C:A p.(Ala618Ser) NC_000006.12:40392460:C:A Identity +NM_001276277.3:c.2836A>T NP_001263206.1:p.Ile946Leu NC_000005.10:103180101:A:T p.(Ile946Leu) NC_000005.10:103180101:A:T p.(Ile946Leu) NC_000005.10:103180101:A:T Identity +NM_005121.3:c.6112G>A NP_005112.2:p.Gly2038Ser NC_000017.11:61952969:C:T p.(Gly2038Ser) NC_000017.11:61952969:C:T p.(Gly2038Ser) NC_000017.11:61952969:C:T Identity +NM_001146225.2:c.193C>T NP_001139697.1:p.Arg65Trp NC_000012.12:52601259:G:A p.(Arg65Trp) NC_000012.12:52601259:G:A p.(Arg65Trp) NC_000012.12:52601259:G:A Identity +NM_002332.3:c.12322A>C NP_002323.2:p.Ile4108Leu NC_000012.12:57209750:A:C p.(Ile4108Leu) NC_000012.12:57209750:A:C p.(Ile4108Leu) NC_000012.12:57209750:A:C Identity +NM_001330365.2:c.1016G>A NP_001317294.1:p.Arg339His NC_000019.10:9610437:C:T p.(Arg339His) NC_000019.10:9610437:C:T p.(Arg339His) NC_000019.10:9610437:C:T Identity +NM_198584.3:c.731G>T NP_940986.1:p.Ser244Ile NC_000008.11:85281290:G:T p.(Ser244Ile) NC_000008.11:85281290:G:T p.(Ser244Ile) NC_000008.11:85281290:G:T Identity +NM_001004450.3:c.756G>A NP_001004450.2:p.Met252Ile NC_000009.12:122628776:C:T p.(Met252Ile) NC_000009.12:122628776:C:T p.(Met252Ile) NC_000009.12:122628776:C:T Identity +NM_212556.4:c.622G>T NP_997721.2:p.Gly208Trp NC_000002.12:236214840:C:A p.(Gly208Trp) NC_000002.12:236214840:C:A p.(Gly208Trp) NC_000002.12:236214840:C:A Identity +NM_001012270.2:c.279C>T NP_001012270.1:p.Ala93= NC_000017.11:78223521:C:T p.(Ala93=) NC_000017.11:78223521:C:T p.(Ala93=) NC_000017.11:78223521:C:T Identity +NM_001145113.3:c.298G>A NP_001138585.2:p.Ala100Thr NC_000017.11:81941443:C:T p.(Ala100Thr) NC_000017.11:81941443:C:T p.(Ala100Thr) NC_000017.11:81941443:C:T Identity +NM_001351282.2:c.560G>A NP_001338211.1:p.Arg187His NC_000012.12:85980279:C:T p.(Arg187His) NC_000012.12:85980279:C:T p.(Arg187His) NC_000012.12:85980279:C:T Identity +NM_001350299.2:c.2542G>A NP_001337228.1:p.Glu848Lys NC_000006.12:130869783:C:T p.(Glu848Lys) NC_000006.12:130869783:C:T p.(Glu848Lys) NC_000006.12:130869783:C:T Identity +NM_001160226.3:c.871G>C NP_001153698.1:p.Val291Leu NC_000006.12:88144403:C:G p.(Val291Leu) NC_000006.12:88144403:C:G p.(Val291Leu) NC_000006.12:88144403:C:G Identity +NM_001393897.1:c.1613G>A NP_001380826.1:p.Arg538Gln NC_000007.14:132228460:C:T p.(Arg538Gln) NC_000007.14:132228460:C:T p.(Arg538Gln) NC_000007.14:132228460:C:T Identity +NM_001098518.2:c.3389T>C NP_001091988.1:p.Ile1130Thr NC_000006.12:46858513:A:G p.(Ile1130Thr) NC_000006.12:46858513:A:G p.(Ile1130Thr) NC_000006.12:46858513:A:G Identity +NM_025054.5:c.2426A>G NP_079330.2:p.Asn809Ser NC_000008.11:66664532:T:C p.(Asn809Ser) NC_000008.11:66664532:T:C p.(Asn809Ser) NC_000008.11:66664532:T:C Identity +NM_153834.4:c.5217T>A NP_722576.3:p.Asp1739Glu NC_000023.11:136348922:T:A p.(Asp1739Glu) NC_000023.11:136348922:T:A p.(Asp1739Glu) NC_000023.11:136348922:T:A Identity +NM_020884.7:c.1679C>T NP_065935.4:p.Ala560Val NC_000020.11:34989830:C:T p.(Ala560Val) NC_000020.11:34989830:C:T p.(Ala560Val) NC_000020.11:34989830:C:T Identity +NM_001278170.2:c.1514G>A NP_001265099.1:p.Cys505Tyr NC_000010.11:38055619:G:A p.(Cys505Tyr) NC_000010.11:38055619:G:A p.(Cys505Tyr) NC_000010.11:38055619:G:A Identity +NM_032649.6:c.206G>A NP_116038.4:p.Arg69His NC_000018.10:74559374:G:A p.(Arg69His) NC_000018.10:74559374:G:A p.(Arg69His) NC_000018.10:74559374:G:A Identity +NM_001130924.3:c.1988A>G NP_001124396.2:p.Gln663Arg NC_000001.11:9613069:A:G p.(Gln663Arg) NC_000001.11:9613069:A:G p.(Gln663Arg) NC_000001.11:9613069:A:G Identity +NM_021259.3:c.206G>A NP_067082.2:p.Arg69His NC_000016.10:377763:C:T p.(Arg69His) NC_000016.10:377763:C:T p.(Arg69His) NC_000016.10:377763:C:T Identity +NM_001307943.2:c.1490A>G NP_001294872.1:p.His497Arg NC_000011.10:43405523:A:G p.(His497Arg) NC_000011.10:43405523:A:G p.(His497Arg) NC_000011.10:43405523:A:G Identity +NM_001160100.2:c.193G>T NP_001153572.1:p.Ala65Ser NC_000013.11:95560166:G:T p.(Ala65Ser) NC_000013.11:95560166:G:T p.(Ala65Ser) NC_000013.11:95560166:G:T Identity +NM_006637.1:c.690C>G NP_006628.1:p.Ile230Met NC_000011.10:55935710:G:C p.(Ile230Met) NC_000011.10:55935710:G:C p.(Ile230Met) NC_000011.10:55935710:G:C Identity +NM_001136103.3:c.139C>A NP_001129575.2:p.Pro47Thr NC_000012.12:128414784:C:A p.(Pro47Thr) NC_000012.12:128414784:C:A p.(Pro47Thr) NC_000012.12:128414784:C:A Identity +NM_001080431.3:c.2254T>C NP_001073900.1:p.Cys752Arg NC_000008.11:141211584:A:G p.(Cys752Arg) NC_000008.11:141211584:A:G p.(Cys752Arg) NC_000008.11:141211584:A:G Identity +NM_001145961.2:c.3032G>A NP_001139433.1:p.Arg1011Gln NC_000016.10:67945202:C:T p.(Arg1011Gln) NC_000016.10:67945202:C:T p.(Arg1011Gln) NC_000016.10:67945202:C:T Identity +NM_001193343.2:c.206A>G NP_001180272.1:p.Gln69Arg NC_000006.12:43678563:T:C p.(Gln69Arg) NC_000006.12:43678563:T:C p.(Gln69Arg) NC_000006.12:43678563:T:C Identity +NM_002886.4:c.502G>T NP_002877.2:p.Ala168Ser NC_000003.12:153163194:G:T p.(Ala168Ser) NC_000003.12:153163194:G:T p.(Ala168Ser) NC_000003.12:153163194:G:T Identity +NM_001243093.2:c.1136C>G NP_001230022.1:p.Thr379Arg NC_000005.10:39201854:G:C p.(Thr379Arg) NC_000005.10:39201854:G:C p.(Thr379Arg) NC_000005.10:39201854:G:C Identity +NM_153606.4:c.612C>G NP_705834.2:p.Ser204Arg NC_000001.11:212625488:C:G p.(Ser204Arg) NC_000001.11:212625488:C:G p.(Ser204Arg) NC_000001.11:212625488:C:G Identity +NM_001300914.2:c.688T>A NP_001287843.1:p.Ser230Thr NC_000019.10:14515974:A:T p.(Ser230Thr) NC_000019.10:14515974:A:T p.(Ser230Thr) NC_000019.10:14515974:A:T Identity +NM_015083.4:c.1387G>A NP_055898.1:p.Val463Met NC_000017.11:39471218:G:A p.(Val463Met) NC_000017.11:39471218:G:A p.(Val463Met) NC_000017.11:39471218:G:A Identity +NM_015490.4:c.289C>T NP_056305.1:p.Leu97Phe NC_000010.11:100509425:G:A p.(Leu97Phe) NC_000010.11:100509425:G:A p.(Leu97Phe) NC_000010.11:100509425:G:A Identity +NM_173651.4:c.13043A>G NP_775922.3:p.Lys4348Arg NC_000002.12:185802348:A:G p.(Lys4348Arg) NC_000002.12:185802348:A:G p.(Lys4348Arg) NC_000002.12:185802348:A:G Identity +NM_175918.3:c.940C>T NP_787114.2:p.Arg314Cys NC_000004.12:1395450:C:T ERR:Data provider error: ValueError: Transcript NM_175918.3 not found ERR:Data provider error: ValueError: Transcript NM_175918.3 not found ERR:AlignmentMapper(tx_ac=NM_175918.3, alt_ac=NM_175918.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_175918.3, alt_ac=NM_175918.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_175918.3 not found +NM_001109754.4:c.3500T>C NP_001103224.1:p.Val1167Ala NC_000012.12:70569808:A:G p.(Val1167Ala) NC_000012.12:70569808:A:G p.(Val1167Ala) NC_000012.12:70569808:A:G Identity +NM_001166461.2:c.200G>A NP_001159933.1:p.Arg67Gln NC_000023.11:154792187:C:T p.(Arg67Gln) NC_000023.11:154792187:C:T p.(Arg67Gln) NC_000023.11:154792187:C:T Identity +NM_001303264.2:c.508G>T NP_001290193.1:p.Gly170Trp NC_000003.12:150409857:G:T p.(Gly170Trp) NC_000003.12:150409857:G:T p.(Gly170Trp) NC_000003.12:150409857:G:T Identity +NM_000521.4:c.1181T>G NP_000512.2:p.Ile394Ser NC_000005.10:74718301:T:G p.(Ile394Ser) NC_000005.10:74718301:T:G p.(Ile394Ser) NC_000005.10:74718301:T:G Identity +NM_001278470.2:c.5107G>C NP_001265399.1:p.Ala1703Pro NC_000012.12:62592719:G:C p.(Ala1703Pro) NC_000012.12:62592719:G:C p.(Ala1703Pro) NC_000012.12:62592719:G:C Identity +NM_001044369.3:c.154G>C NP_001037834.2:p.Glu52Gln NC_000018.10:74457105:C:G p.(Glu52Gln) NC_000018.10:74457105:C:G p.(Glu52Gln) NC_000018.10:74457105:C:G Identity +NM_001389683.1:c.4423G>T NP_001376612.1:p.Gly1475Cys NC_000012.12:132773178:C:A p.(Gly1475Cys) NC_000012.12:132773178:C:A p.(Gly1475Cys) NC_000012.12:132773178:C:A Identity +NM_001145097.2:c.593C>G NP_001138569.1:p.Thr198Ser NC_000003.12:170360923:C:G p.(Thr198Ser) NC_000003.12:170360923:C:G p.(Thr198Ser) NC_000003.12:170360923:C:G Identity +NM_001080508.3:c.1739G>C NP_001073977.1:p.Ser580Thr NC_000006.12:84736769:C:G p.(Ser580Thr) NC_000006.12:84736769:C:G p.(Ser580Thr) NC_000006.12:84736769:C:G Identity +NM_001293197.2:c.305A>G NP_001280126.1:p.Glu102Gly NC_000016.10:681599:A:G p.(Glu102Gly) NC_000016.10:681599:A:G p.(Glu102Gly) NC_000016.10:681599:A:G Identity +NM_001155.5:c.1717G>A NP_001146.2:p.Asp573Asn NC_000005.10:151108517:C:T p.(Asp573Asn) NC_000005.10:151108517:C:T p.(Asp573Asn) NC_000005.10:151108517:C:T Identity +NM_024936.3:c.1153C>T NP_079212.2:p.Arg385Trp NC_000004.12:25362244:C:T p.(Arg385Trp) NC_000004.12:25362244:C:T p.(Arg385Trp) NC_000004.12:25362244:C:T Identity +NM_001368073.2:c.3460A>G NP_001355002.1:p.Asn1154Asp NC_000015.10:56093976:T:C p.(Asn1154Asp) NC_000015.10:56093976:T:C p.(Asn1154Asp) NC_000015.10:56093976:T:C Identity +NM_001168355.3:c.392A>G NP_001161827.1:p.Asn131Ser NC_000005.10:38881737:A:G p.(Asn131Ser) NC_000005.10:38881737:A:G p.(Asn131Ser) NC_000005.10:38881737:A:G Identity +NM_001386735.1:c.2354A>G NP_001373664.1:p.Asn785Ser NC_000016.10:72957791:T:C p.(Asn785Ser) NC_000016.10:72957791:T:C p.(Asn785Ser) NC_000016.10:72957791:T:C Identity +NM_001330107.2:c.35G>A NP_001317036.1:p.Arg12Gln NC_000010.11:73808353:C:T p.(Arg12Gln) NC_000010.11:73808353:C:T p.(Arg12Gln) NC_000010.11:73808353:C:T Identity +NM_018951.4:c.913G>A NP_061824.3:p.Ala305Thr NC_000007.14:27173393:C:T p.(Ala305Thr) NC_000007.14:27173393:C:T p.(Ala305Thr) NC_000007.14:27173393:C:T Identity +NM_017774.3:c.1411A>C NP_060244.2:p.Met471Leu NC_000006.12:21201136:A:C p.(Met471Leu) NC_000006.12:21201136:A:C p.(Met471Leu) NC_000006.12:21201136:A:C Identity +NM_017590.6:c.547C>T NP_060060.3:p.Leu183Phe NC_000022.11:41332191:C:T p.(Leu183Phe) NC_000022.11:41332191:C:T p.(Leu183Phe) NC_000022.11:41332191:C:T Identity +NM_005149.3:c.682G>A NP_005140.1:p.Val228Ile NC_000001.11:168300437:G:A p.(Val228Ile) NC_000001.11:168300437:G:A p.(Val228Ile) NC_000001.11:168300437:G:A Identity +NM_080743.5:c.79C>T NP_542781.3:p.Arg27Cys NC_000006.12:89107244:G:A p.(Arg27Cys) NC_000006.12:89107244:G:A p.(Arg27Cys) NC_000006.12:89107244:G:A Identity +NM_001284295.2:c.842G>C NP_001271224.1:p.Arg281Thr NC_000007.14:151236444:G:C p.(Arg281Thr) NC_000007.14:151236444:G:C p.(Arg281Thr) NC_000007.14:151236444:G:C Identity +NM_001287580.2:c.301C>T NP_001274509.1:p.Arg101Cys NC_000002.12:27843078:G:A p.(Arg101Cys) NC_000002.12:27843078:G:A p.(Arg101Cys) NC_000002.12:27843078:G:A Identity +NM_021118.3:c.443T>C NP_066941.1:p.Val148Ala NC_000023.11:83873150:T:C p.(Val148Ala) NC_000023.11:83873150:T:C p.(Val148Ala) NC_000023.11:83873150:T:C Identity +NM_001142928.2:c.632G>A NP_001136400.1:p.Arg211Gln NC_000007.14:150337492:G:A p.(Arg211Gln) NC_000007.14:150337492:G:A p.(Arg211Gln) NC_000007.14:150337492:G:A Identity +NM_001414174.1:c.5132T>A NP_001401103.1:p.Val1711Glu NC_000012.12:26495198:A:T p.(Val1711Glu) NC_000012.12:26495198:A:T p.(Val1711Glu) NC_000012.12:26495198:A:T Identity +NM_001242837.2:c.1894A>C NP_001229766.1:p.Lys632Gln NC_000011.10:994179:A:C p.(Lys632Gln) NC_000011.10:994179:A:C p.(Lys632Gln) NC_000011.10:994179:A:C Identity +NM_001257998.2:c.1877G>A NP_001244927.1:p.Arg626Gln NC_000007.14:93323721:G:A p.(Arg626Gln) NC_000007.14:93323721:G:A p.(Arg626Gln) NC_000007.14:93323721:G:A Identity +NM_014372.5:c.23C>T NP_055187.1:p.Pro8Leu NC_000001.11:51236778:C:T p.(Pro8Leu) NC_000001.11:51236778:C:T p.(Pro8Leu) NC_000001.11:51236778:C:T Identity +NM_001166243.3:c.346G>A NP_001159715.1:p.Glu116Lys NC_000003.12:59922347:C:T p.(Glu116Lys) NC_000003.12:59922347:C:T p.(Glu116Lys) NC_000003.12:59922347:C:T Identity +NM_001134382.3:c.661G>A NP_001127854.1:p.Ala221Thr NC_000003.12:12936354:C:T p.(Ala221Thr) NC_000003.12:12936354:C:T p.(Ala221Thr) NC_000003.12:12936354:C:T Identity +NM_001083900.1:c.2896C>A NP_001077369.1:p.Pro966Thr NC_000012.12:123813268:C:A ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001168235.2:c.911C>T NP_001161707.1:p.Pro304Leu NC_000004.12:143699764:G:A p.(Pro304Leu) NC_000004.12:143699764:G:A p.(Pro304Leu) NC_000004.12:143699764:G:A Identity +NM_001197246.2:c.790G>A NP_001184175.1:p.Ala264Thr NC_000006.12:26372970:G:A p.(Ala264Thr) NC_000006.12:26372970:G:A p.(Ala264Thr) NC_000006.12:26372970:G:A Identity +NM_006898.5:c.988G>A NP_008829.3:p.Ala330Thr NC_000002.12:176171962:G:A p.(Ala330Thr) NC_000002.12:176171962:G:A p.(Ala330Thr) NC_000002.12:176171962:G:A Identity +NM_005687.5:c.4C>T NP_005678.3:p.Pro2Ser NC_000002.12:222656069:G:A p.(Pro2Ser) NC_000002.12:222656069:G:A p.(Pro2Ser) NC_000002.12:222656069:G:A Identity +NM_015103.3:c.1720C>T NP_055918.3:p.Arg574Trp NC_000003.12:129586172:G:A p.(Arg574Trp) NC_000003.12:129586172:G:A p.(Arg574Trp) NC_000003.12:129586172:G:A Identity +NM_001354635.2:c.752G>A NP_001341564.1:p.Ser251Asn NC_000008.11:9029969:G:A p.(Ser251Asn) NC_000008.11:9029969:G:A p.(Ser251Asn) NC_000008.11:9029969:G:A Identity +NM_001002909.4:c.2968C>T NP_001002909.1:p.Arg990Trp NC_000017.11:44399108:G:A p.(Arg990Trp) NC_000017.11:44399108:G:A p.(Arg990Trp) NC_000017.11:44399108:G:A Identity +NM_001163.4:c.1536G>C NP_001154.2:p.Gln512His NC_000009.12:69457118:C:G p.(Gln512His) NC_000009.12:69457118:C:G p.(Gln512His) NC_000009.12:69457118:C:G Identity +NM_015286.6:c.3114C>A NP_056101.5:p.Ser1038Arg NC_000015.10:99131473:C:A p.(Ser1038Arg) NC_000015.10:99131473:C:A p.(Ser1038Arg) NC_000015.10:99131473:C:A Identity +NM_138295.5:c.7844G>A NP_612152.1:p.Arg2615Gln NC_000007.14:47803327:C:T p.(Arg2615Gln) NC_000007.14:47803327:C:T p.(Arg2615Gln) NC_000007.14:47803327:C:T Identity +NM_001005171.3:c.245A>G NP_001005171.2:p.Lys82Arg NC_000011.10:4489144:A:G p.(Lys82Arg) NC_000011.10:4489144:A:G p.(Lys82Arg) NC_000011.10:4489144:A:G Identity +NM_003005.4:c.2036T>C NP_002996.2:p.Ile679Thr NC_000001.11:169595989:A:G p.(Ile679Thr) NC_000001.11:169595989:A:G p.(Ile679Thr) NC_000001.11:169595989:A:G Identity +NM_005111.5:c.546G>T NP_005102.2:p.Lys182Asn NC_000021.9:33602264:C:A ERR:Data provider error: ValueError: Transcript NM_005111.5 not found ERR:Data provider error: ValueError: Transcript NM_005111.5 not found ERR:AlignmentMapper(tx_ac=NM_005111.5, alt_ac=NM_005111.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_005111.5, alt_ac=NM_005111.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_005111.5 not found +NM_001024736.2:c.676G>A NP_001019907.1:p.Val226Met NC_000015.10:73703028:G:A p.(Val226Met) NC_000015.10:73703028:G:A p.(Val226Met) NC_000015.10:73703028:G:A Identity +NM_001350929.2:c.4342G>T NP_001337858.1:p.Ala1448Ser NC_000014.9:104950808:C:A p.(Ala1448Ser) NC_000014.9:104950808:C:A p.(Ala1448Ser) NC_000014.9:104950808:C:A Identity +NM_003365.3:c.1301C>T NP_003356.2:p.Ala434Val NC_000003.12:48600063:G:A p.(Ala434Val) NC_000003.12:48600063:G:A p.(Ala434Val) NC_000003.12:48600063:G:A Identity +NM_001303270.2:c.1985G>A NP_001290199.1:p.Ser662Asn NC_000017.11:7742976:G:A p.(Ser662Asn) NC_000017.11:7742976:G:A p.(Ser662Asn) NC_000017.11:7742976:G:A Identity +NM_001286760.1:c.464C>T NP_001273689.1:p.Pro155Leu NC_000009.12:128424545:C:T p.(Pro155Leu) NC_000009.12:128424545:C:T p.(Pro155Leu) NC_000009.12:128424545:C:T Identity +NM_001346252.4:c.148G>T NP_001333181.1:p.Asp50Tyr NC_000011.10:113852620:C:A p.(Asp50Tyr) NC_000011.10:113852620:C:A p.(Asp50Tyr) NC_000011.10:113852620:C:A Identity +NM_173588.4:c.3494A>G NP_775859.4:p.Tyr1165Cys NC_000011.10:18706999:T:C p.(Tyr1165Cys) NC_000011.10:18706999:T:C p.(Tyr1165Cys) NC_000011.10:18706999:T:C Identity +NM_001858.6:c.2333C>T NP_001849.2:p.Pro778Leu NC_000006.12:70161939:C:T p.(Pro778Leu) NC_000006.12:70161939:C:T p.(Pro778Leu) NC_000006.12:70161939:C:T Identity +NM_001013699.3:c.265G>A NP_001013721.2:p.Val89Ile NC_000012.12:31791901:C:T p.(Val89Ile) NC_000012.12:31791901:C:T p.(Val89Ile) NC_000012.12:31791901:C:T Identity +NM_001005172.2:c.818A>G NP_001005172.2:p.His273Arg NC_000011.10:4450156:A:G p.(His273Arg) NC_000011.10:4450156:A:G p.(His273Arg) NC_000011.10:4450156:A:G Identity +NM_001358345.2:c.535G>A NP_001345274.1:p.Val179Met NC_000012.12:113320489:C:T p.(Val179Met) NC_000012.12:113320489:C:T p.(Val179Met) NC_000012.12:113320489:C:T Identity +NM_001320747.2:c.3499G>A NP_001307676.1:p.Asp1167Asn NC_000017.11:76009771:C:T p.(Asp1167Asn) NC_000017.11:76009771:C:T p.(Asp1167Asn) NC_000017.11:76009771:C:T Identity +NM_001300883.3:c.923C>G NP_001287812.1:p.Thr308Ser NC_000019.10:9529007:G:C p.(Thr308Ser) NC_000019.10:9529007:G:C p.(Thr308Ser) NC_000019.10:9529007:G:C Identity +NM_001038705.3:c.530G>T NP_001033794.1:p.Arg177Leu NC_000003.12:154429085:C:A p.(Arg177Leu) NC_000003.12:154429085:C:A p.(Arg177Leu) NC_000003.12:154429085:C:A Identity +NM_015114.3:c.2567A>G NP_055929.1:p.His856Arg NC_000012.12:132728079:T:C p.(His856Arg) NC_000012.12:132728079:T:C p.(His856Arg) NC_000012.12:132728079:T:C Identity +NM_181536.2:c.2044G>A NP_853514.1:p.Val682Met NC_000016.10:71970014:C:T p.(Val682Met) NC_000016.10:71970014:C:T p.(Val682Met) NC_000016.10:71970014:C:T Identity +NM_001018050.4:c.108C>G NP_001018060.1:p.Asn36Lys NC_000022.11:41543993:G:C p.(Asn36Lys) NC_000022.11:41543993:G:C p.(Asn36Lys) NC_000022.11:41543993:G:C Identity +NM_001142685.2:c.1653T>G NP_001136157.1:p.Ile551Met NC_000011.10:128981500:A:C p.(Ile551Met) NC_000011.10:128981500:A:C p.(Ile551Met) NC_000011.10:128981500:A:C Identity +NM_001206927.2:c.1759G>C NP_001193856.1:p.Glu587Gln NC_000006.12:38770553:G:C p.(Glu587Gln) NC_000006.12:38770553:G:C p.(Glu587Gln) NC_000006.12:38770553:G:C Identity +NM_001278616.2:c.2716G>C NP_001265545.1:p.Gly906Arg NC_000002.12:110641313:C:G p.(Gly906Arg) NC_000002.12:110641313:C:G p.(Gly906Arg) NC_000002.12:110641313:C:G Identity +NM_001003897.2:c.29C>G NP_001003897.1:p.Pro10Arg NC_000020.11:37301291:C:G p.(Pro10Arg) NC_000020.11:37301291:C:G p.(Pro10Arg) NC_000020.11:37301291:C:G Identity +NM_016333.4:c.7403C>T NP_057417.3:p.Pro2468Leu NC_000016.10:2767930:C:T p.(Pro2468Leu) NC_000016.10:2767930:C:T p.(Pro2468Leu) NC_000016.10:2767930:C:T Identity +NM_001346077.1:c.452C>A NP_001333006.1:p.Ala151Asp NC_000017.11:29572154:C:A p.(Ala151Asp) NC_000017.11:29572154:C:A p.(Ala151Asp) NC_000017.11:29572154:C:A Identity +NM_145020.5:c.646G>A NP_659457.2:p.Glu216Lys NC_000018.10:50251611:C:T p.(Glu216Lys) NC_000018.10:50251611:C:T p.(Glu216Lys) NC_000018.10:50251611:C:T Identity +NM_002318.3:c.976G>C NP_002309.1:p.Val326Leu NC_000008.11:23328555:C:G p.(Val326Leu) NC_000008.11:23328555:C:G p.(Val326Leu) NC_000008.11:23328555:C:G Identity +NM_001286823.2:c.387C>G NP_001273752.1:p.Phe129Leu NC_000009.12:137372979:G:C p.(Phe129Leu) NC_000009.12:137372979:G:C p.(Phe129Leu) NC_000009.12:137372979:G:C Identity +NM_203405.2:c.262G>A NP_981950.1:p.Val88Met NC_000021.9:30319773:C:T p.(Val88Met) NC_000021.9:30319773:C:T p.(Val88Met) NC_000021.9:30319773:C:T Identity +NM_004667.6:c.10193C>T NP_004658.3:p.Ser3398Leu NC_000015.10:28169519:G:A p.(Ser3398Leu) NC_000015.10:28169519:G:A p.(Ser3398Leu) NC_000015.10:28169519:G:A Identity +NM_001256053.2:c.3577A>G NP_001242982.1:p.Lys1193Glu NC_000010.11:27034869:T:C p.(Lys1193Glu) NC_000010.11:27034869:T:C p.(Lys1193Glu) NC_000010.11:27034869:T:C Identity +NM_001366652.1:c.1664G>T NP_001353581.1:p.Arg555Leu NC_000005.10:160622541:C:A p.(Arg555Leu) NC_000005.10:160622541:C:A p.(Arg555Leu) NC_000005.10:160622541:C:A Identity +NM_032140.3:c.608G>A NP_115516.1:p.Arg203His NC_000016.10:67663791:C:T p.(Arg203His) NC_000016.10:67663791:C:T p.(Arg203His) NC_000016.10:67663791:C:T Identity +NM_004774.4:c.1666C>A NP_004765.2:p.Pro556Thr NC_000017.11:39410554:G:T p.(Pro556Thr) NC_000017.11:39410554:G:T p.(Pro556Thr) NC_000017.11:39410554:G:T Identity +NM_001083908.2:c.1505G>A NP_001077377.1:p.Gly502Asp NC_000014.9:49633644:C:T p.(Gly502Asp) NC_000014.9:49633644:C:T p.(Gly502Asp) NC_000014.9:49633644:C:T Identity +NM_016562.4:c.611C>T NP_057646.1:p.Thr204Ile NC_000023.11:12886118:C:T p.(Thr204Ile) NC_000023.11:12886118:C:T p.(Thr204Ile) NC_000023.11:12886118:C:T Identity +NM_001130675.2:c.498T>G NP_001124147.1:p.Ile166Met NC_000004.12:140401987:A:C p.(Ile166Met) NC_000004.12:140401987:A:C p.(Ile166Met) NC_000004.12:140401987:A:C Identity +NM_174981.6:c.189G>T NP_778146.2:p.Lys63Asn NC_000021.9:13610416:G:T p.(Lys63Asn) NC_000021.9:13610416:G:T p.(Lys63Asn) NC_000021.9:13610416:G:T Identity +NM_019112.4:c.1684G>A NP_061985.2:p.Val562Met NC_000019.10:1046862:G:A p.(Val562Met) NC_000019.10:1046862:G:A p.(Val562Met) NC_000019.10:1046862:G:A Identity +NM_021800.3:c.572G>C NP_068572.1:p.Arg191Thr NC_000010.11:67797140:C:G p.(Arg191Thr) NC_000010.11:67797140:C:G p.(Arg191Thr) NC_000010.11:67797140:C:G Identity +NM_001146102.2:c.217A>C NP_001139574.1:p.Ile73Leu NC_000003.12:122556058:T:G p.(Ile73Leu) NC_000003.12:122556058:T:G p.(Ile73Leu) NC_000003.12:122556058:T:G Identity +NM_004134.7:c.1178C>G NP_004125.3:p.Pro393Arg NC_000005.10:138561583:G:C p.(Pro393Arg) NC_000005.10:138561583:G:C p.(Pro393Arg) NC_000005.10:138561583:G:C Identity +NM_018402.2:c.97T>C NP_060872.1:p.Tyr33His NC_000012.12:68225659:A:G p.(Tyr33His) NC_000012.12:68225659:A:G p.(Tyr33His) NC_000012.12:68225659:A:G Identity +NM_001365029.1:c.3074C>G NP_001351958.1:p.Ser1025Cys NC_000009.12:17416151:C:G p.(Ser1025Cys) NC_000009.12:17416151:C:G p.(Ser1025Cys) NC_000009.12:17416151:C:G Identity +NM_001167574.2:c.248G>A NP_001161046.1:p.Arg83Gln NC_000022.11:45293219:G:A p.(Arg83Gln) NC_000022.11:45293219:G:A p.(Arg83Gln) NC_000022.11:45293219:G:A Identity +NM_001172656.2:c.421G>A NP_001166127.1:p.Ala141Thr NC_000004.12:2339552:C:T p.(Ala141Thr) NC_000004.12:2339552:C:T p.(Ala141Thr) NC_000004.12:2339552:C:T Identity +NM_014366.5:c.1642T>G NP_055181.3:p.Tyr548Asp NC_000003.12:52694266:T:G p.(Tyr548Asp) NC_000003.12:52694266:T:G p.(Tyr548Asp) NC_000003.12:52694266:T:G Identity +NM_001017926.3:c.2251C>T NP_001017926.1:p.Arg751Trp NC_000008.11:123253695:G:A p.(Arg751Trp) NC_000008.11:123253695:G:A p.(Arg751Trp) NC_000008.11:123253695:G:A Identity +NM_213656.4:c.949C>T NP_998821.3:p.Arg317Cys NC_000017.11:40962208:G:A p.(Arg317Cys) NC_000017.11:40962208:G:A p.(Arg317Cys) NC_000017.11:40962208:G:A Identity +NM_019077.3:c.467T>C NP_061950.2:p.Ile156Thr NC_000002.12:233682403:T:C p.(Ile156Thr) NC_000002.12:233682403:T:C p.(Ile156Thr) NC_000002.12:233682403:T:C Identity +NM_001008781.3:c.13475G>A NP_001008781.2:p.Gly4492Asp NC_000011.10:92890913:G:A p.(Gly4492Asp) NC_000011.10:92890913:G:A p.(Gly4492Asp) NC_000011.10:92890913:G:A Identity +NM_001143688.3:c.416A>C NP_001137160.1:p.Gln139Pro NC_000015.10:66306945:A:C p.(Gln139Pro) NC_000015.10:66306945:A:C p.(Gln139Pro) NC_000015.10:66306945:A:C Identity +NM_014440.3:c.161C>A NP_055255.1:p.Thr54Asn NC_000002.12:113006633:C:A p.(Thr54Asn) NC_000002.12:113006633:C:A p.(Thr54Asn) NC_000002.12:113006633:C:A Identity +NM_001270380.3:c.665G>C NP_001257309.1:p.Arg222Thr NC_000011.10:74907240:C:G p.(Arg222Thr) NC_000011.10:74907240:C:G p.(Arg222Thr) NC_000011.10:74907240:C:G Identity +NM_130767.3:c.1595T>C NP_570123.1:p.Ile532Thr NC_000005.10:81330466:A:G p.(Ile532Thr) NC_000005.10:81330466:A:G p.(Ile532Thr) NC_000005.10:81330466:A:G Identity +NM_207359.3:c.725A>T NP_997242.2:p.Asp242Val NC_000003.12:30844392:T:A p.(Asp242Val) NC_000003.12:30844392:T:A p.(Asp242Val) NC_000003.12:30844392:T:A Identity +NM_001128174.3:c.1543G>A NP_001121646.2:p.Val515Ile NC_000004.12:114676204:G:A p.(Val515Ile) NC_000004.12:114676204:G:A p.(Val515Ile) NC_000004.12:114676204:G:A Identity +NM_001080391.2:c.1984G>A NP_001073860.1:p.Gly662Ser NC_000002.12:230506415:G:A p.(Gly662Ser) NC_000002.12:230506415:G:A p.(Gly662Ser) NC_000002.12:230506415:G:A Identity +NM_004354.3:c.755T>C NP_004345.1:p.Leu252Pro NC_000004.12:77164322:T:C p.(Leu252Pro) NC_000004.12:77164322:T:C p.(Leu252Pro) NC_000004.12:77164322:T:C Identity +NM_005663.5:c.991G>C NP_005654.4:p.Val331Leu NC_000004.12:1984852:C:G p.(Val331Leu) NC_000004.12:1984852:C:G p.(Val331Leu) NC_000004.12:1984852:C:G Identity +NM_001287436.3:c.2303T>C NP_001274365.1:p.Ile768Thr NC_000007.14:51028963:A:G p.(Ile768Thr) NC_000007.14:51028963:A:G p.(Ile768Thr) NC_000007.14:51028963:A:G Identity +NM_001145975.2:c.1760G>A NP_001139447.1:p.Arg587Gln NC_000017.11:28497102:G:A p.(Arg587Gln) NC_000017.11:28497102:G:A p.(Arg587Gln) NC_000017.11:28497102:G:A Identity +NM_005178.5:c.1247T>C NP_005169.2:p.Met416Thr NC_000019.10:44759496:T:C p.(Met416Thr) NC_000019.10:44759496:T:C p.(Met416Thr) NC_000019.10:44759496:T:C Identity +NM_024715.4:c.203C>T NP_078991.3:p.Pro68Leu NC_000005.10:134887793:C:T p.(Pro68Leu) NC_000005.10:134887793:C:T p.(Pro68Leu) NC_000005.10:134887793:C:T Identity +NM_001290261.2:c.896G>A NP_001277190.1:p.Arg299Gln NC_000020.11:25676391:C:T p.(Arg299Gln) NC_000020.11:25676391:C:T p.(Arg299Gln) NC_000020.11:25676391:C:T Identity +NM_001321042.2:c.667G>C NP_001307971.1:p.Asp223His NC_000010.11:132749800:G:C p.(Asp223His) NC_000010.11:132749800:G:C p.(Asp223His) NC_000010.11:132749800:G:C Identity +NM_001227.5:c.568G>A NP_001218.1:p.Glu190Lys NC_000010.11:113726319:G:A p.(Glu190Lys) NC_000010.11:113726319:G:A p.(Glu190Lys) NC_000010.11:113726319:G:A Identity +NM_001010889.2:c.524A>G NP_001010889.1:p.Lys175Arg NC_000001.11:12941328:T:C p.(Lys175Arg) NC_000001.11:12941328:T:C p.(Lys175Arg) NC_000001.11:12941328:T:C Identity +NM_001006939.4:c.275T>C NP_001006940.3:p.Ile92Thr NC_000010.11:48913880:A:G p.(Ile92Thr) NC_000010.11:48913880:A:G p.(Ile92Thr) NC_000010.11:48913880:A:G Identity +NM_001013732.4:c.1210A>G NP_001013754.3:p.Ile404Val NC_000006.12:47879633:T:C p.(Ile404Val) NC_000006.12:47879633:T:C p.(Ile404Val) NC_000006.12:47879633:T:C Identity +NM_001009899.4:c.5972G>A NP_001009899.3:p.Arg1991His NC_000003.12:113655709:C:T p.(Arg1991His) NC_000003.12:113655709:C:T p.(Arg1991His) NC_000003.12:113655709:C:T Identity +NM_001145106.2:c.868G>A NP_001138578.1:p.Asp290Asn NC_000009.12:130911869:C:T p.(Asp290Asn) NC_000009.12:130911869:C:T p.(Asp290Asn) NC_000009.12:130911869:C:T Identity +NM_001005408.2:c.4316C>T NP_001005408.1:p.Thr1439Ile NC_000017.11:7317366:G:A p.(Thr1439Ile) NC_000017.11:7317366:G:A p.(Thr1439Ile) NC_000017.11:7317366:G:A Identity +NM_001080464.3:c.1103G>T NP_001073933.2:p.Arg368Leu NC_000014.9:104105379:G:T p.(Arg368Leu) NC_000014.9:104105379:G:T p.(Arg368Leu) NC_000014.9:104105379:G:T Identity +NM_001051.5:c.415G>A NP_001042.1:p.Val139Met NC_000022.11:37207388:C:T p.(Val139Met) NC_000022.11:37207388:C:T p.(Val139Met) NC_000022.11:37207388:C:T Identity +NM_001160305.4:c.178C>T NP_001153777.1:p.Pro60Ser NC_000016.10:58515940:C:T p.(Pro60Ser) NC_000016.10:58515940:C:T p.(Pro60Ser) NC_000016.10:58515940:C:T Identity +NM_001134224.2:c.1072G>A NP_001127696.1:p.Val358Ile NC_000002.12:98546602:G:A p.(Val358Ile) NC_000002.12:98546602:G:A p.(Val358Ile) NC_000002.12:98546602:G:A Identity +NM_001199671.2:c.11C>G NP_001186600.1:p.Thr4Ser NC_000007.14:128748364:C:G p.(Thr4Ser) NC_000007.14:128748364:C:G p.(Thr4Ser) NC_000007.14:128748364:C:G Identity +NM_001324338.2:c.965A>C NP_001311267.1:p.Glu322Ala NC_000015.10:39726673:T:G p.(Glu322Ala) NC_000015.10:39726673:T:G p.(Glu322Ala) NC_000015.10:39726673:T:G Identity +NM_014824.3:c.900G>C NP_055639.2:p.Gln300His NC_000011.10:72902566:C:G p.(Gln300His) NC_000011.10:72902566:C:G p.(Gln300His) NC_000011.10:72902566:C:G Identity +NM_001348729.2:c.2212A>C NP_001335658.1:p.Lys738Gln NC_000002.12:8785760:T:G p.(Lys738Gln) NC_000002.12:8785760:T:G p.(Lys738Gln) NC_000002.12:8785760:T:G Identity +NM_001318336.2:c.3061C>T NP_001305265.1:p.Pro1021Ser NC_000010.11:13654452:G:A p.(Pro1021Ser) NC_000010.11:13654452:G:A p.(Pro1021Ser) NC_000010.11:13654452:G:A Identity +NM_001013836.2:c.1750G>C NP_001013858.1:p.Val584Leu NC_000007.14:1936743:C:G p.(Val584Leu) NC_000007.14:1936743:C:G p.(Val584Leu) NC_000007.14:1936743:C:G Identity +NM_001323972.2:c.2345C>T NP_001310901.1:p.Thr782Ile NC_000016.10:67271166:C:T p.(Thr782Ile) NC_000016.10:67271166:C:T p.(Thr782Ile) NC_000016.10:67271166:C:T Identity +NM_001130037.2:c.614C>T NP_001123509.1:p.Pro205Leu NC_000011.10:107650393:C:T p.(Pro205Leu) NC_000011.10:107650393:C:T p.(Pro205Leu) NC_000011.10:107650393:C:T Identity +NM_001102469.2:c.495G>T NP_001095939.1:p.Glu165Asp NC_000010.11:88766337:G:T p.(Glu165Asp) NC_000010.11:88766337:G:T p.(Glu165Asp) NC_000010.11:88766337:G:T Identity +NM_001242837.2:c.893A>G NP_001229766.1:p.Lys298Arg NC_000011.10:985509:A:G p.(Lys298Arg) NC_000011.10:985509:A:G p.(Lys298Arg) NC_000011.10:985509:A:G Identity +NM_016125.4:c.875T>C NP_057209.3:p.Leu292Ser NC_000017.11:59957353:A:G p.(Leu292Ser) NC_000017.11:59957353:A:G p.(Leu292Ser) NC_000017.11:59957353:A:G Identity +NM_006289.4:c.5683C>T NP_006280.3:p.Arg1895Cys NC_000009.12:35705600:G:A p.(Arg1895Cys) NC_000009.12:35705600:G:A p.(Arg1895Cys) NC_000009.12:35705600:G:A Identity +NM_001085382.2:c.1501G>A NP_001078851.1:p.Ala501Thr NC_000004.12:7433378:C:T p.(Ala501Thr) NC_000004.12:7433378:C:T p.(Ala501Thr) NC_000004.12:7433378:C:T Identity +NM_001105533.1:c.659G>A NP_001099003.1:p.Gly220Glu NC_000007.14:121097740:G:A p.(Gly220Glu) NC_000007.14:121097740:G:A p.(Gly220Glu) NC_000007.14:121097740:G:A Identity +NM_018264.4:c.248A>G NP_060734.2:p.Tyr83Cys NC_000007.14:66998928:A:G p.(Tyr83Cys) NC_000007.14:66998928:A:G p.(Tyr83Cys) NC_000007.14:66998928:A:G Identity +NM_001252197.1:c.872C>A NP_001239126.1:p.Pro291His NC_000016.10:54933295:C:A p.(Pro291His) NC_000016.10:54933295:C:A p.(Pro291His) NC_000016.10:54933295:C:A Identity +NM_001142502.2:c.1094C>T NP_001135974.1:p.Pro365Leu NC_000019.10:45395695:G:A p.(Pro365Leu) NC_000019.10:45395695:G:A p.(Pro365Leu) NC_000019.10:45395695:G:A Identity +NM_001385623.1:c.1447C>T NP_001372552.1:p.Arg483Trp NC_000009.12:109217107:G:A p.(Arg483Trp) NC_000009.12:109217107:G:A p.(Arg483Trp) NC_000009.12:109217107:G:A Identity +NM_001130167.2:c.769G>A NP_001123639.1:p.Val257Ile NC_000019.10:42755206:C:T p.(Val257Ile) NC_000019.10:42755206:C:T p.(Val257Ile) NC_000019.10:42755206:C:T Identity +NM_001018056.3:c.2124A>C NP_001018066.1:p.Glu708Asp NC_000009.12:2650388:A:C p.(Glu708Asp) NC_000009.12:2650388:A:C p.(Glu708Asp) NC_000009.12:2650388:A:C Identity +NM_001321057.1:c.1246G>A NP_001307986.1:p.Glu416Lys NC_000019.10:55912570:C:T p.(Glu416Lys) NC_000019.10:55912570:C:T p.(Glu416Lys) NC_000019.10:55912570:C:T Identity +NM_001329434.2:c.4040A>G NP_001316363.2:p.Gln1347Arg NC_000007.14:135635634:A:G p.(Gln1347Arg) NC_000007.14:135635634:A:G p.(Gln1347Arg) NC_000007.14:135635634:A:G Identity +NM_001163334.1:c.827G>A NP_001156806.1:p.Ser276Asn NC_000023.11:38089582:G:A p.(Ser276Asn) NC_000023.11:38089582:G:A p.(Ser276Asn) NC_000023.11:38089582:G:A Identity +NM_001145010.3:c.750A>G NP_001138482.1:p.Ile250Met NC_000012.12:27495771:A:G p.(Ile250Met) NC_000012.12:27495771:A:G p.(Ile250Met) NC_000012.12:27495771:A:G Identity +NM_175886.3:c.902G>A NP_787082.1:p.Arg301Lys NC_000007.14:18026880:C:T p.(Arg301Lys) NC_000007.14:18026880:C:T p.(Arg301Lys) NC_000007.14:18026880:C:T Identity +NM_001128635.2:c.4322G>A NP_001122107.1:p.Gly1441Asp NC_000022.11:21388179:G:A p.(Gly1441Asp) NC_000022.11:21388179:G:A p.(Gly1441Asp) NC_000022.11:21388179:G:A Identity +NM_001258290.2:c.33G>A NP_001245219.1:p.Met11Ile NC_000016.10:31150002:C:T p.(Met11Ile) NC_000016.10:31150002:C:T p.(Met11Ile) NC_000016.10:31150002:C:T Identity +NM_001145030.2:c.2879T>C NP_001138502.1:p.Val960Ala NC_000003.12:44256201:T:C p.(Val960Ala) NC_000003.12:44256201:T:C p.(Val960Ala) NC_000003.12:44256201:T:C Identity +NM_001308047.2:c.5104A>T NP_001294976.1:p.Ile1702Phe NC_000009.12:76707169:T:A p.(Ile1702Phe) NC_000009.12:76707169:T:A p.(Ile1702Phe) NC_000009.12:76707169:T:A Identity +NM_001080495.3:c.816G>T NP_001073964.2:p.Lys272Asn NC_000007.14:5389007:C:A p.(Lys272Asn) NC_000007.14:5389007:C:A p.(Lys272Asn) NC_000007.14:5389007:C:A Identity +NM_001177663.2:c.1339T>G NP_001171134.1:p.Phe447Val NC_000002.12:151436969:T:G p.(Phe447Val) NC_000002.12:151436969:T:G p.(Phe447Val) NC_000002.12:151436969:T:G Identity +NM_001142807.4:c.470G>A NP_001136279.1:p.Cys157Tyr NC_000002.12:110799022:G:A p.(Cys157Tyr) NC_000002.12:110799022:G:A p.(Cys157Tyr) NC_000002.12:110799022:G:A Identity +NM_001163417.1:c.710C>T NP_001156889.1:p.Ala237Val NC_000005.10:93824205:G:A p.(Ala237Val) NC_000005.10:93824205:G:A p.(Ala237Val) NC_000005.10:93824205:G:A Identity +NM_003930.5:c.172A>G NP_003921.2:p.Ile58Val NC_000007.14:26854785:T:C p.(Ile58Val) NC_000007.14:26854785:T:C p.(Ile58Val) NC_000007.14:26854785:T:C Identity +NM_001002909.4:c.2241G>T NP_001002909.1:p.Arg747Ser NC_000017.11:44399835:C:A p.(Arg747Ser) NC_000017.11:44399835:C:A p.(Arg747Ser) NC_000017.11:44399835:C:A Identity +NM_001142645.2:c.1084G>A NP_001136117.1:p.Asp362Asn NC_000002.12:190510406:C:T p.(Asp362Asn) NC_000002.12:190510406:C:T p.(Asp362Asn) NC_000002.12:190510406:C:T Identity +NM_001198868.2:c.1895C>T NP_001185797.1:p.Ser632Leu NC_000011.10:65210048:C:T p.(Ser632Leu) NC_000011.10:65210048:C:T p.(Ser632Leu) NC_000011.10:65210048:C:T Identity +NM_013432.5:c.4073G>A NP_038460.4:p.Ser1358Asn NC_000008.11:144429206:C:T p.(Ser1358Asn) NC_000008.11:144429206:C:T p.(Ser1358Asn) NC_000008.11:144429206:C:T Identity +NM_001199699.2:c.1460A>T NP_001186628.1:p.His487Leu NC_000017.11:5444349:T:A p.(His487Leu) NC_000017.11:5444349:T:A p.(His487Leu) NC_000017.11:5444349:T:A Identity +NM_001320663.2:c.610C>A NP_001307592.1:p.Pro204Thr NC_000023.11:9937650:C:A p.(Pro204Thr) NC_000023.11:9937650:C:A p.(Pro204Thr) NC_000023.11:9937650:C:A Identity +NM_130782.3:c.7A>C NP_570138.1:p.Thr3Pro NC_000001.11:192158643:A:C p.(Thr3Pro) NC_000001.11:192158643:A:C p.(Thr3Pro) NC_000001.11:192158643:A:C Identity +NM_001159846.3:c.490C>T NP_001153318.1:p.Arg164Trp NC_000019.10:4345939:C:T p.(Arg164Trp) NC_000019.10:4345939:C:T p.(Arg164Trp) NC_000019.10:4345939:C:T Identity +NM_019617.4:c.52G>T NP_062563.4:p.Ala18Ser NC_000002.12:68977533:G:T p.(Ala18Ser) NC_000002.12:68977533:G:T p.(Ala18Ser) NC_000002.12:68977533:G:T Identity +NM_001378090.1:c.1258C>T NP_001365019.1:p.Arg420Cys NC_000009.12:15086:G:A p.(Arg420Cys) NC_000009.12:15086:G:A p.(Arg420Cys) NC_000009.12:15086:G:A Identity +NM_001105577.2:c.487G>A NP_001099047.1:p.Ala163Thr NC_000013.11:27978140:C:T p.(Ala163Thr) NC_000013.11:27978140:C:T p.(Ala163Thr) NC_000013.11:27978140:C:T Identity +NM_001145716.2:c.563G>A NP_001139188.1:p.Arg188Gln NC_000006.12:36301905:G:A p.(Arg188Gln) NC_000006.12:36301905:G:A p.(Arg188Gln) NC_000006.12:36301905:G:A Identity +NM_002508.3:c.1438G>A NP_002499.2:p.Val480Ile NC_000001.11:236032499:C:T p.(Val480Ile) NC_000001.11:236032499:C:T p.(Val480Ile) NC_000001.11:236032499:C:T Identity +NM_001317991.2:c.580G>A NP_001304920.1:p.Ala194Thr NC_000009.12:35107694:C:T p.(Ala194Thr) NC_000009.12:35107694:C:T p.(Ala194Thr) NC_000009.12:35107694:C:T Identity +NM_001142699.3:c.1316T>A NP_001136171.1:p.Met439Lys NC_000011.10:83962908:A:T p.(Met439Lys) NC_000011.10:83962908:A:T p.(Met439Lys) NC_000011.10:83962908:A:T Identity +NM_018901.4:c.2090A>T NP_061724.1:p.Tyr697Phe NC_000005.10:140858137:A:T p.(Tyr697Phe) NC_000005.10:140858137:A:T p.(Tyr697Phe) NC_000005.10:140858137:A:T Identity +NM_001003698.4:c.3493G>A NP_001003698.1:p.Ala1165Thr NC_000006.12:7231591:G:A p.(Ala1165Thr) NC_000006.12:7231591:G:A p.(Ala1165Thr) NC_000006.12:7231591:G:A Identity +NM_001284292.2:c.3392C>T NP_001271221.2:p.Ala1131Val NC_000015.10:34357399:C:T p.(Ala1131Val) NC_000015.10:34357399:C:T p.(Ala1131Val) NC_000015.10:34357399:C:T Identity +NM_001363493.2:c.2524C>T NP_001350422.1:p.Arg842Trp NC_000007.14:100866383:C:T p.(Arg842Trp) NC_000007.14:100866383:C:T p.(Arg842Trp) NC_000007.14:100866383:C:T Identity +NM_001243137.2:c.789A>G NP_001230066.1:p.Ile263Met NC_000015.10:85100166:A:G p.(Ile263Met) NC_000015.10:85100166:A:G p.(Ile263Met) NC_000015.10:85100166:A:G Identity +NM_000610.4:c.1784A>T NP_000601.3:p.Asn595Ile NC_000011.10:35211422:A:T p.(Asn595Ile) NC_000011.10:35211422:A:T p.(Asn595Ile) NC_000011.10:35211422:A:T Identity +NM_013435.3:c.257C>A NP_038463.2:p.Pro86Gln NC_000018.10:59272949:G:T p.(Pro86Gln) NC_000018.10:59272949:G:T p.(Pro86Gln) NC_000018.10:59272949:G:T Identity +NM_153358.3:c.160G>A NP_699189.2:p.Asp54Asn NC_000019.10:12624678:G:A p.(Asp54Asn) NC_000019.10:12624678:G:A p.(Asp54Asn) NC_000019.10:12624678:G:A Identity +NM_001384365.1:c.527C>T NP_001371294.1:p.Ala176Val NC_000016.10:57997738:G:A p.(Ala176Val) NC_000016.10:57997738:G:A p.(Ala176Val) NC_000016.10:57997738:G:A Identity +NM_001144981.3:c.181C>T NP_001138453.1:p.Arg61Cys NC_000013.11:36283684:G:A p.(Arg61Cys) NC_000013.11:36283684:G:A p.(Arg61Cys) NC_000013.11:36283684:G:A Identity +NM_001349608.2:c.3091A>G NP_001336537.1:p.Lys1031Glu NC_000001.11:7736457:A:G p.(Lys1031Glu) NC_000001.11:7736457:A:G p.(Lys1031Glu) NC_000001.11:7736457:A:G Identity +NM_176782.3:c.1417C>G NP_788954.2:p.His473Asp NC_000001.11:54609608:G:C p.(His473Asp) NC_000001.11:54609608:G:C p.(His473Asp) NC_000001.11:54609608:G:C Identity +NM_001163278.2:c.4579A>G NP_001156750.1:p.Thr1527Ala NC_000023.11:124420713:T:C p.(Thr1527Ala) NC_000023.11:124420713:T:C p.(Thr1527Ala) NC_000023.11:124420713:T:C Identity +NM_033129.4:c.140C>T NP_149120.1:p.Ala47Val NC_000020.11:664454:G:A p.(Ala47Val) NC_000020.11:664454:G:A p.(Ala47Val) NC_000020.11:664454:G:A Identity +NM_001391985.1:c.4493G>A NP_001378914.1:p.Arg1498Gln NC_000008.11:142543652:G:A p.(Arg1498Gln) NC_000008.11:142543652:G:A p.(Arg1498Gln) NC_000008.11:142543652:G:A Identity +NM_001098537.3:c.2038C>T NP_001092007.2:p.Arg680Trp NC_000009.12:137495121:G:A p.(Arg680Trp) NC_000009.12:137495121:G:A p.(Arg680Trp) NC_000009.12:137495121:G:A Identity +NM_001199388.3:c.2135G>A NP_001186317.1:p.Arg712His NC_000006.12:130869824:C:T p.(Arg712His) NC_000006.12:130869824:C:T p.(Arg712His) NC_000006.12:130869824:C:T Identity +NM_001318226.2:c.2050G>A NP_001305155.1:p.Glu684Lys NC_000020.11:25479073:C:T p.(Glu684Lys) NC_000020.11:25479073:C:T p.(Glu684Lys) NC_000020.11:25479073:C:T Identity +NM_014675.5:c.3592G>T NP_055490.4:p.Ala1198Ser NC_000001.11:16955437:G:T p.(Ala1198Ser) NC_000001.11:16955437:G:T p.(Ala1198Ser) NC_000001.11:16955437:G:T Identity +NM_001204760.2:c.1073G>A NP_001191689.1:p.Gly358Asp NC_000004.12:166025345:G:A p.(Gly358Asp) NC_000004.12:166025345:G:A p.(Gly358Asp) NC_000004.12:166025345:G:A Identity +NM_001289861.2:c.2534C>T NP_001276790.1:p.Pro845Leu NC_000001.11:7827462:C:T p.(Pro845Leu) NC_000001.11:7827462:C:T p.(Pro845Leu) NC_000001.11:7827462:C:T Identity +NM_001411141.1:c.2384C>T NP_001398070.1:p.Pro795Leu NC_000019.10:2216740:C:T p.(Pro795Leu) NC_000019.10:2216740:C:T p.(Pro795Leu) NC_000019.10:2216740:C:T Identity +NM_001159969.2:c.1085C>T NP_001153441.1:p.Ala362Val NC_000001.11:51399056:G:A p.(Ala362Val) NC_000001.11:51399056:G:A p.(Ala362Val) NC_000001.11:51399056:G:A Identity +NM_001256798.2:c.964A>G NP_001243727.1:p.Met322Val NC_000020.11:32456272:T:C p.(Met322Val) NC_000020.11:32456272:T:C p.(Met322Val) NC_000020.11:32456272:T:C Identity +NM_001354571.2:c.1012C>T NP_001341500.1:p.Arg338Trp NC_000003.12:186620834:C:T p.(Arg338Trp) NC_000003.12:186620834:C:T p.(Arg338Trp) NC_000003.12:186620834:C:T Identity +NM_022346.5:c.2971C>T NP_071741.2:p.Pro991Ser NC_000004.12:17843347:C:T p.(Pro991Ser) NC_000004.12:17843347:C:T p.(Pro991Ser) NC_000004.12:17843347:C:T Identity +NM_000750.5:c.1490G>A NP_000741.1:p.Arg497His NC_000015.10:78625139:C:T p.(Arg497His) NC_000015.10:78625139:C:T p.(Arg497His) NC_000015.10:78625139:C:T Identity +NM_024642.5:c.179G>A NP_078918.3:p.Arg60Gln NC_000009.12:98807876:G:A p.(Arg60Gln) NC_000009.12:98807876:G:A p.(Arg60Gln) NC_000009.12:98807876:G:A Identity +NM_003021.4:c.784G>A NP_003012.1:p.Gly262Ser NC_000019.10:2757735:C:T p.(Gly262Ser) NC_000019.10:2757735:C:T p.(Gly262Ser) NC_000019.10:2757735:C:T Identity +NM_000059.4:c.8618T>C NP_000050.3:p.Phe2873Ser NC_000013.11:32371085:T:C p.(Phe2873Ser) NC_000013.11:32371085:T:C p.(Phe2873Ser) NC_000013.11:32371085:T:C Identity +NM_001105513.3:c.914T>C NP_001098983.2:p.Leu305Ser NC_000003.12:39121132:T:C p.(Leu305Ser) NC_000003.12:39121132:T:C p.(Leu305Ser) NC_000003.12:39121132:T:C Identity +NM_001301016.3:c.1970C>G NP_001287945.1:p.Thr657Ser NC_000019.10:41304235:C:G p.(Thr657Ser) NC_000019.10:41304235:C:G p.(Thr657Ser) NC_000019.10:41304235:C:G Identity +NM_001145206.2:c.5172T>G NP_001138678.1:p.Phe1724Leu NC_000022.11:25181795:T:G p.(Phe1724Leu) NC_000022.11:25181795:T:G p.(Phe1724Leu) NC_000022.11:25181795:T:G Identity +NM_001099646.3:c.1052G>A NP_001093116.1:p.Ser351Asn NC_000017.11:19703133:C:T p.(Ser351Asn) NC_000017.11:19703133:C:T p.(Ser351Asn) NC_000017.11:19703133:C:T Identity +NM_001002860.4:c.1687C>T NP_001002860.2:p.Arg563Trp NC_000014.9:93253711:G:A p.(Arg563Trp) NC_000014.9:93253711:G:A p.(Arg563Trp) NC_000014.9:93253711:G:A Identity +NM_001319065.2:c.284A>G NP_001305994.1:p.Gln95Arg NC_000019.10:49033048:A:G p.(Gln95Arg) NC_000019.10:49033048:A:G p.(Gln95Arg) NC_000019.10:49033048:A:G Identity +NM_001005502.3:c.1276A>G NP_001005502.1:p.Thr426Ala NC_000012.12:68856492:T:C p.(Thr426Ala) NC_000012.12:68856492:T:C p.(Thr426Ala) NC_000012.12:68856492:T:C Identity +NM_001145195.2:c.569A>G NP_001138667.1:p.Lys190Arg NC_000010.11:17965507:A:G p.(Lys190Arg) NC_000010.11:17965507:A:G p.(Lys190Arg) NC_000010.11:17965507:A:G Identity +NM_030960.3:c.160A>C NP_112222.1:p.Asn54His NC_000006.12:88048064:A:C p.(Asn54His) NC_000006.12:88048064:A:C p.(Asn54His) NC_000006.12:88048064:A:C Identity +NM_030772.5:c.224T>A NP_110399.2:p.Ile75Asn NC_000001.11:38875874:A:T p.(Ile75Asn) NC_000001.11:38875874:A:T p.(Ile75Asn) NC_000001.11:38875874:A:T Identity +NM_018690.4:c.2188G>C NP_061160.3:p.Ala730Pro NC_000016.10:28497228:G:C p.(Ala730Pro) NC_000016.10:28497228:G:C p.(Ala730Pro) NC_000016.10:28497228:G:C Identity +NM_001024924.2:c.392A>G NP_001020095.1:p.Asn131Ser NC_000004.12:55864362:A:G p.(Asn131Ser) NC_000004.12:55864362:A:G p.(Asn131Ser) NC_000004.12:55864362:A:G Identity +NM_001350630.2:c.2503C>T NP_001337559.1:p.Arg835Cys NC_000001.11:223004628:C:T p.(Arg835Cys) NC_000001.11:223004628:C:T p.(Arg835Cys) NC_000001.11:223004628:C:T Identity +NM_001134398.2:c.1177A>G NP_001127870.1:p.Ile393Val NC_000009.12:133791793:T:C p.(Ile393Val) NC_000009.12:133791793:T:C p.(Ile393Val) NC_000009.12:133791793:T:C Identity +NM_001363731.2:c.565C>T NP_001350660.1:p.Arg189Cys NC_000020.11:32143068:C:T p.(Arg189Cys) NC_000020.11:32143068:C:T p.(Arg189Cys) NC_000020.11:32143068:C:T Identity +NM_005173.4:c.1400G>A NP_005164.2:p.Arg467Gln NC_000017.11:3943409:C:T p.(Arg467Gln) NC_000017.11:3943409:C:T p.(Arg467Gln) NC_000017.11:3943409:C:T Identity +NM_002291.3:c.2642G>C NP_002282.2:p.Gly881Ala NC_000007.14:107959296:C:G p.(Gly881Ala) NC_000007.14:107959296:C:G p.(Gly881Ala) NC_000007.14:107959296:C:G Identity +NM_002974.4:c.603G>C NP_002965.1:p.Trp201Cys NC_000018.10:63639642:C:G p.(Trp201Cys) NC_000018.10:63639642:C:G p.(Trp201Cys) NC_000018.10:63639642:C:G Identity +NM_001310338.2:c.131A>G NP_001297267.1:p.Tyr44Cys NC_000020.11:17969989:A:G p.(Tyr44Cys) NC_000020.11:17969989:A:G p.(Tyr44Cys) NC_000020.11:17969989:A:G Identity +NM_001174164.2:c.1586C>T NP_001167635.1:p.Pro529Leu NC_000007.14:128351969:G:A p.(Pro529Leu) NC_000007.14:128351969:G:A p.(Pro529Leu) NC_000007.14:128351969:G:A Identity +NM_004122.2:c.367A>C NP_004113.1:p.Ser123Arg NC_000003.12:172448046:T:G p.(Ser123Arg) NC_000003.12:172448046:T:G p.(Ser123Arg) NC_000003.12:172448046:T:G Identity +NM_001321269.2:c.65G>A NP_001308198.1:p.Arg22His NC_000017.11:58219165:C:T p.(Arg22His) NC_000017.11:58219165:C:T p.(Arg22His) NC_000017.11:58219165:C:T Identity +NM_000250.2:c.1769G>A NP_000241.1:p.Arg590His NC_000017.11:58272770:C:T p.(Arg590His) NC_000017.11:58272770:C:T p.(Arg590His) NC_000017.11:58272770:C:T Identity +NM_001256167.2:c.464A>T NP_001243096.1:p.Gln155Leu NC_000003.12:40516399:A:T p.(Gln155Leu) NC_000003.12:40516399:A:T p.(Gln155Leu) NC_000003.12:40516399:A:T Identity +NM_172027.3:c.150G>T NP_742024.1:p.Glu50Asp NC_000003.12:127674574:G:T p.(Glu50Asp) NC_000003.12:127674574:G:T p.(Glu50Asp) NC_000003.12:127674574:G:T Identity +NM_002274.4:c.514G>A NP_002265.3:p.Glu172Lys NC_000017.11:41503706:C:T p.(Glu172Lys) NC_000017.11:41503706:C:T p.(Glu172Lys) NC_000017.11:41503706:C:T Identity +NM_177531.6:c.3052A>G NP_803875.2:p.Ile1018Val NC_000008.11:109429390:A:G p.(Ile1018Val) NC_000008.11:109429390:A:G p.(Ile1018Val) NC_000008.11:109429390:A:G Identity +NM_018290.4:c.143G>A NP_060760.2:p.Arg48Gln NC_000004.12:37830024:G:A p.(Arg48Gln) NC_000004.12:37830024:G:A p.(Arg48Gln) NC_000004.12:37830024:G:A Identity +NM_004581.5:c.355C>T NP_004572.3:p.Arg119Cys NC_000014.9:24270024:G:A p.(Arg119Cys) NC_000014.9:24270024:G:A p.(Arg119Cys) NC_000014.9:24270024:G:A Identity +NM_001252119.2:c.2615C>T NP_001239048.1:p.Thr872Ile NC_000002.12:241126299:G:A p.(Thr872Ile) NC_000002.12:241126299:G:A p.(Thr872Ile) NC_000002.12:241126299:G:A Identity +NM_003266.4:c.1556C>T NP_003257.1:p.Ser519Phe NC_000009.12:117713803:C:T p.(Ser519Phe) NC_000009.12:117713803:C:T p.(Ser519Phe) NC_000009.12:117713803:C:T Identity +NM_207371.4:c.1540G>A NP_997254.3:p.Ala514Thr NC_000010.11:21516282:C:T p.(Ala514Thr) NC_000010.11:21516282:C:T p.(Ala514Thr) NC_000010.11:21516282:C:T Identity +NM_002483.7:c.487G>A NP_002474.4:p.Val163Met NC_000019.10:41761310:G:A p.(Val163Met) NC_000019.10:41761310:G:A p.(Val163Met) NC_000019.10:41761310:G:A Identity +NM_003786.4:c.2171T>C NP_003777.2:p.Leu724Pro NC_000017.11:50669457:T:C p.(Leu724Pro) NC_000017.11:50669457:T:C p.(Leu724Pro) NC_000017.11:50669457:T:C Identity +NM_001002029.4:c.4045C>T NP_001002029.3:p.Arg1349Cys NC_000006.12:32030015:C:T p.(Arg1349Cys) NC_000006.12:32030015:C:T p.(Arg1349Cys) NC_000006.12:32030015:C:T Identity +NM_024923.4:c.5591C>T NP_079199.2:p.Pro1864Leu NC_000003.12:13317753:G:A p.(Pro1864Leu) NC_000003.12:13317753:G:A p.(Pro1864Leu) NC_000003.12:13317753:G:A Identity +NM_001276.4:c.14C>T NP_001267.2:p.Ala5Val NC_000001.11:203186609:G:A p.(Ala5Val) NC_000001.11:203186609:G:A p.(Ala5Val) NC_000001.11:203186609:G:A Identity +NM_001367830.1:c.250G>C NP_001354759.1:p.Glu84Gln NC_000019.10:11252840:C:G p.(Glu84Gln) NC_000019.10:11252840:C:G p.(Glu84Gln) NC_000019.10:11252840:C:G Identity +NM_006836.2:c.337G>A NP_006827.1:p.Ala113Thr NC_000012.12:120183657:C:T p.(Ala113Thr) NC_000012.12:120183657:C:T p.(Ala113Thr) NC_000012.12:120183657:C:T Identity +NM_139055.4:c.2494G>A NP_620686.1:p.Val832Met NC_000011.10:130473461:G:A p.(Val832Met) NC_000011.10:130473461:G:A p.(Val832Met) NC_000011.10:130473461:G:A Identity +NM_004821.3:c.562C>G NP_004812.1:p.Pro188Ala NC_000005.10:154475891:G:C p.(Pro188Ala) NC_000005.10:154475891:G:C p.(Pro188Ala) NC_000005.10:154475891:G:C Identity +NM_001366028.2:c.2882T>C NP_001352957.1:p.Val961Ala NC_000003.12:57459640:A:G p.(Val961Ala) NC_000003.12:57459640:A:G p.(Val961Ala) NC_000003.12:57459640:A:G Identity +NM_001145315.2:c.638A>C NP_001138787.1:p.Glu213Ala NC_000020.11:36758569:T:G p.(Glu213Ala) NC_000020.11:36758569:T:G p.(Glu213Ala) NC_000020.11:36758569:T:G Identity +NM_001164741.2:c.1876C>T NP_001158213.1:p.Arg626Trp NC_000023.11:153910759:G:A p.(Arg626Trp) NC_000023.11:153910759:G:A p.(Arg626Trp) NC_000023.11:153910759:G:A Identity +NM_001032730.3:c.671A>G NP_001027902.1:p.Asn224Ser NC_000001.11:21751609:T:C p.(Asn224Ser) NC_000001.11:21751609:T:C p.(Asn224Ser) NC_000001.11:21751609:T:C Identity +NM_001319225.2:c.473C>T NP_001306154.1:p.Pro158Leu NC_000001.11:12572823:G:A p.(Pro158Leu) NC_000001.11:12572823:G:A p.(Pro158Leu) NC_000001.11:12572823:G:A Identity +NM_001362819.2:c.2062G>T NP_001349748.1:p.Asp688Tyr NC_000008.11:18765459:C:A p.(Asp688Tyr) NC_000008.11:18765459:C:A p.(Asp688Tyr) NC_000008.11:18765459:C:A Identity +NM_001039141.3:c.6011A>T NP_001034230.1:p.Glu2004Val NC_000022.11:37757935:A:T p.(Glu2004Val) NC_000022.11:37757935:A:T p.(Glu2004Val) NC_000022.11:37757935:A:T Identity +NM_001278669.2:c.205T>C NP_001265598.1:p.Cys69Arg NC_000018.10:79410479:T:C p.(Cys69Arg) NC_000018.10:79410479:T:C p.(Cys69Arg) NC_000018.10:79410479:T:C Identity +NM_000760.4:c.559T>G NP_000751.1:p.Cys187Gly NC_000001.11:36473548:A:C p.(Cys187Gly) NC_000001.11:36473548:A:C p.(Cys187Gly) NC_000001.11:36473548:A:C Identity +NM_001287595.2:c.1253A>G NP_001274524.1:p.Asn418Ser NC_000001.11:53090761:T:C p.(Asn418Ser) NC_000001.11:53090761:T:C p.(Asn418Ser) NC_000001.11:53090761:T:C Identity +NM_001128928.2:c.845A>C NP_001122400.1:p.Asp282Ala NC_000002.12:190371046:A:C p.(Asp282Ala) NC_000002.12:190371046:A:C p.(Asp282Ala) NC_000002.12:190371046:A:C Identity +NM_001144825.2:c.770A>G NP_001138297.1:p.Lys257Arg NC_000017.11:44315294:A:G p.(Lys257Arg) NC_000017.11:44315294:A:G p.(Lys257Arg) NC_000017.11:44315294:A:G Identity +NM_001162536.3:c.655A>G NP_001156008.1:p.Ser219Gly NC_000001.11:88983171:T:C p.(Ser219Gly) NC_000001.11:88983171:T:C p.(Ser219Gly) NC_000001.11:88983171:T:C Identity +NM_002729.5:c.476A>G NP_002720.1:p.Gln159Arg NC_000010.11:92692481:A:G p.(Gln159Arg) NC_000010.11:92692481:A:G p.(Gln159Arg) NC_000010.11:92692481:A:G Identity +NM_015325.3:c.1813G>A NP_056140.1:p.Gly605Arg NC_000005.10:5461146:G:A p.(Gly605Arg) NC_000005.10:5461146:G:A p.(Gly605Arg) NC_000005.10:5461146:G:A Identity +NM_001394672.2:c.1082C>A NP_001381601.1:p.Ala361Glu NC_000003.12:36738084:G:T p.(Ala361Glu) NC_000003.12:36738084:G:T p.(Ala361Glu) NC_000003.12:36738084:G:T Identity +NM_001297436.2:c.92T>G NP_001284365.1:p.Ile31Ser NC_000019.10:51719812:A:C p.(Ile31Ser) NC_000019.10:51719812:A:C p.(Ile31Ser) NC_000019.10:51719812:A:C Identity +NM_001376146.1:c.1429A>G NP_001363075.1:p.Ile477Val NC_000001.11:77631925:T:C p.(Ile477Val) NC_000001.11:77631925:T:C p.(Ile477Val) NC_000001.11:77631925:T:C Identity +NM_003594.4:c.1057G>A NP_003585.3:p.Asp353Asn NC_000001.11:117075640:G:A p.(Asp353Asn) NC_000001.11:117075640:G:A p.(Asp353Asn) NC_000001.11:117075640:G:A Identity +NM_007232.3:c.20A>T NP_009163.2:p.Asp7Val NC_000020.11:62219950:T:A p.(Asp7Val) NC_000020.11:62219950:T:A p.(Asp7Val) NC_000020.11:62219950:T:A Identity +NM_001320531.2:c.121A>G NP_001307460.1:p.Ile41Val NC_000003.12:112280750:T:C p.(Ile41Val) NC_000003.12:112280750:T:C p.(Ile41Val) NC_000003.12:112280750:T:C Identity +NM_001282716.1:c.346G>C NP_001269645.1:p.Asp116His NC_000007.14:100186208:G:C p.(Asp116His) NC_000007.14:100186208:G:C p.(Asp116His) NC_000007.14:100186208:G:C Identity +NM_001113567.3:c.857G>A NP_001107039.1:p.Arg286His NC_000017.11:16443765:C:T p.(Arg286His) NC_000017.11:16443765:C:T p.(Arg286His) NC_000017.11:16443765:C:T Identity +NM_001307960.2:c.20C>A NP_001294889.1:p.Pro7Gln NC_000015.10:101652341:G:T p.(Pro7Gln) NC_000015.10:101652341:G:T p.(Pro7Gln) NC_000015.10:101652341:G:T Identity +NM_198281.3:c.854C>T NP_938022.2:p.Pro285Leu NC_000004.12:89249256:G:A p.(Pro285Leu) NC_000004.12:89249256:G:A p.(Pro285Leu) NC_000004.12:89249256:G:A Identity +NM_001317381.2:c.2330G>A NP_001304310.1:p.Ser777Asn NC_000004.12:127830707:G:A p.(Ser777Asn) NC_000004.12:127830707:G:A p.(Ser777Asn) NC_000004.12:127830707:G:A Identity +NM_001256959.2:c.1387C>G NP_001243888.2:p.Pro463Ala NC_000001.11:11833956:C:G p.(Pro463Ala) NC_000001.11:11833956:C:G p.(Pro463Ala) NC_000001.11:11833956:C:G Identity +NM_001178130.3:c.3430C>G NP_001171601.1:p.Leu1144Val NC_000004.12:110011383:C:G p.(Leu1144Val) NC_000004.12:110011383:C:G p.(Leu1144Val) NC_000004.12:110011383:C:G Identity +NM_004905.3:c.313G>C NP_004896.1:p.Asp105His NC_000001.11:173485420:G:C p.(Asp105His) NC_000001.11:173485420:G:C p.(Asp105His) NC_000001.11:173485420:G:C Identity +NM_002900.3:c.132C>A NP_002891.1:p.Asn44Lys NC_000010.11:47348615:C:A p.(Asn44Lys) NC_000010.11:47348615:C:A p.(Asn44Lys) NC_000010.11:47348615:C:A Identity +NM_001278510.3:c.626G>A NP_001265439.2:p.Cys209Tyr NC_000019.10:44430136:C:T p.(Cys209Tyr) NC_000019.10:44430136:C:T p.(Cys209Tyr) NC_000019.10:44430136:C:T Identity +NM_001004487.1:c.203C>T NP_001004487.1:p.Thr68Ile NC_000009.12:35870198:G:A p.(Thr68Ile) NC_000009.12:35870198:G:A p.(Thr68Ile) NC_000009.12:35870198:G:A Identity +NM_001008701.3:c.4268A>T NP_001008701.1:p.Tyr1423Phe NC_000019.10:14151029:T:A p.(Tyr1423Phe) NC_000019.10:14151029:T:A p.(Tyr1423Phe) NC_000019.10:14151029:T:A Identity +NM_001004715.5:c.311T>C NP_001004715.3:p.Leu104Pro NC_000014.9:20117809:T:C p.(Leu104Pro) NC_000014.9:20117809:T:C p.(Leu104Pro) NC_000014.9:20117809:T:C Identity +NM_001008727.5:c.455T>G NP_001008727.1:p.Phe152Cys NC_000019.10:9566657:A:C p.(Phe152Cys) NC_000019.10:9566657:A:C p.(Phe152Cys) NC_000019.10:9566657:A:C Identity +NM_001080456.5:c.1046C>T NP_001073925.2:p.Ala349Val NC_000019.10:56190268:G:A p.(Ala349Val) NC_000019.10:56190268:G:A p.(Ala349Val) NC_000019.10:56190268:G:A Identity +NM_001164342.2:c.85G>T NP_001157814.1:p.Ala29Ser NC_000003.12:114380330:C:A p.(Ala29Ser) NC_000003.12:114380330:C:A p.(Ala29Ser) NC_000003.12:114380330:C:A Identity +NM_001800.4:c.382G>C NP_001791.1:p.Ala128Pro NC_000019.10:10567176:C:G p.(Ala128Pro) NC_000019.10:10567176:C:G p.(Ala128Pro) NC_000019.10:10567176:C:G Identity +NM_022834.5:c.656A>G NP_073745.2:p.His219Arg NC_000001.11:1439104:A:G p.(His219Arg) NC_000001.11:1439104:A:G p.(His219Arg) NC_000001.11:1439104:A:G Identity +NM_001163321.4:c.389C>T NP_001156793.2:p.Pro130Leu NC_000023.11:49063960:C:T p.(Pro130Leu) NC_000023.11:49063960:C:T p.(Pro130Leu) NC_000023.11:49063960:C:T Identity +NM_001290225.2:c.733G>C NP_001277154.1:p.Val245Leu NC_000008.11:96320342:G:C p.(Val245Leu) NC_000008.11:96320342:G:C p.(Val245Leu) NC_000008.11:96320342:G:C Identity +NM_001321431.2:c.1246A>G NP_001308360.1:p.Thr416Ala NC_000019.10:8136486:T:C p.(Thr416Ala) NC_000019.10:8136486:T:C p.(Thr416Ala) NC_000019.10:8136486:T:C Identity +NM_007153.3:c.808G>T NP_009084.2:p.Ala270Ser NC_000019.10:21974225:C:A p.(Ala270Ser) NC_000019.10:21974225:C:A p.(Ala270Ser) NC_000019.10:21974225:C:A Identity +NM_032548.4:c.868C>G NP_115937.1:p.Gln290Glu NC_000003.12:127680331:C:G p.(Gln290Glu) NC_000003.12:127680331:C:G p.(Gln290Glu) NC_000003.12:127680331:C:G Identity +NM_001349124.2:c.3470A>T NP_001336053.1:p.Asp1157Val NC_000003.12:42639173:A:T p.(Asp1157Val) NC_000003.12:42639173:A:T p.(Asp1157Val) NC_000003.12:42639173:A:T Identity +NM_001276343.3:c.1139G>C NP_001263272.2:p.Ser380Thr NC_000010.11:45826836:C:G p.(Ser380Thr) NC_000010.11:45826836:C:G p.(Ser380Thr) NC_000010.11:45826836:C:G Identity +NM_004922.4:c.3154G>T NP_004913.2:p.Val1052Leu NC_000010.11:73770963:G:T p.(Val1052Leu) NC_000010.11:73770963:G:T p.(Val1052Leu) NC_000010.11:73770963:G:T Identity +NM_148894.3:c.8327A>T NP_683692.2:p.His2776Leu NC_000004.12:13587724:T:A p.(His2776Leu) NC_000004.12:13587724:T:A p.(His2776Leu) NC_000004.12:13587724:T:A Identity +NM_001370402.1:c.230A>G NP_001357331.1:p.Lys77Arg NC_000007.14:73508465:T:C p.(Lys77Arg) NC_000007.14:73508465:T:C p.(Lys77Arg) NC_000007.14:73508465:T:C Identity +NM_001052.4:c.637G>T NP_001043.2:p.Val213Phe NC_000020.11:23036119:G:T p.(Val213Phe) NC_000020.11:23036119:G:T p.(Val213Phe) NC_000020.11:23036119:G:T Identity +NM_001105513.3:c.3036G>C NP_001098983.2:p.Trp1012Cys NC_000003.12:39136961:G:C p.(Trp1012Cys) NC_000003.12:39136961:G:C p.(Trp1012Cys) NC_000003.12:39136961:G:C Identity +NM_001098814.2:c.1197G>C NP_001092284.1:p.Glu399Asp NC_000016.10:4192377:C:G p.(Glu399Asp) NC_000016.10:4192377:C:G p.(Glu399Asp) NC_000016.10:4192377:C:G Identity +NM_001303425.2:c.1450A>G NP_001290354.1:p.Thr484Ala NC_000003.12:179334413:A:G p.(Thr484Ala) NC_000003.12:179334413:A:G p.(Thr484Ala) NC_000003.12:179334413:A:G Identity +NM_001281300.2:c.1462G>A NP_001268229.1:p.Asp488Asn NC_000007.14:151143521:G:A p.(Asp488Asn) NC_000007.14:151143521:G:A p.(Asp488Asn) NC_000007.14:151143521:G:A Identity +NM_031215.3:c.38C>A NP_112492.2:p.Ala13Asp NC_000020.11:62407238:G:T p.(Ala13Asp) NC_000020.11:62407238:G:T p.(Ala13Asp) NC_000020.11:62407238:G:T Identity +NM_001080513.4:c.934C>G NP_001073982.3:p.Leu312Val NC_000003.12:194341768:G:C p.(Leu312Val) NC_000003.12:194341768:G:C p.(Leu312Val) NC_000003.12:194341768:G:C Identity +NM_001303252.3:c.29G>A NP_001290181.1:p.Gly10Asp NC_000022.11:50261480:C:T p.(Gly10Asp) NC_000022.11:50261480:C:T p.(Gly10Asp) NC_000022.11:50261480:C:T Identity +NM_005519.2:c.612G>C NP_005510.1:p.Trp204Cys NC_000010.11:123149912:G:C p.(Trp204Cys) NC_000010.11:123149912:G:C p.(Trp204Cys) NC_000010.11:123149912:G:C Identity +NM_001410861.1:c.4802T>C NP_001397790.1:p.Leu1601Pro NC_000004.12:168224264:A:G p.(Leu1601Pro) NC_000004.12:168224264:A:G p.(Leu1601Pro) NC_000004.12:168224264:A:G Identity +NM_001321164.2:c.1948C>G NP_001308093.1:p.Pro650Ala NC_000017.11:12984556:C:G p.(Pro650Ala) NC_000017.11:12984556:C:G p.(Pro650Ala) NC_000017.11:12984556:C:G Identity +NM_001002244.2:c.131T>C NP_001002244.1:p.Ile44Thr NC_000017.11:81899262:T:C p.(Ile44Thr) NC_000017.11:81899262:T:C p.(Ile44Thr) NC_000017.11:81899262:T:C Identity +NM_031476.4:c.1052C>T NP_113664.1:p.Thr351Ile NC_000016.10:84873061:C:T p.(Thr351Ile) NC_000016.10:84873061:C:T p.(Thr351Ile) NC_000016.10:84873061:C:T Identity +NM_013300.3:c.481C>G NP_037432.2:p.Gln161Glu NC_000012.12:110486577:C:G p.(Gln161Glu) NC_000012.12:110486577:C:G p.(Gln161Glu) NC_000012.12:110486577:C:G Identity +NM_002725.4:c.715A>G NP_002716.1:p.Arg239Gly NC_000001.11:203483898:A:G p.(Arg239Gly) NC_000001.11:203483898:A:G p.(Arg239Gly) NC_000001.11:203483898:A:G Identity +NM_001258012.4:c.559C>A NP_001244941.2:p.Pro187Thr NC_000017.11:74866207:G:T p.(Pro187Thr) NC_000017.11:74866207:G:T p.(Pro187Thr) NC_000017.11:74866207:G:T Identity +NM_173648.4:c.4133C>T NP_775919.3:p.Thr1378Ile NC_000002.12:178837085:G:A p.(Thr1378Ile) NC_000002.12:178837085:G:A p.(Thr1378Ile) NC_000002.12:178837085:G:A Identity +NM_001346432.2:c.1774A>G NP_001333361.1:p.Ser592Gly NC_000011.10:27368876:T:C p.(Ser592Gly) NC_000011.10:27368876:T:C p.(Ser592Gly) NC_000011.10:27368876:T:C Identity +NM_144570.3:c.274A>T NP_653171.1:p.Ser92Cys NC_000016.10:1691922:A:T p.(Ser92Cys) NC_000016.10:1691922:A:T p.(Ser92Cys) NC_000016.10:1691922:A:T Identity +NM_003802.3:c.350C>A NP_003793.2:p.Thr117Asn NC_000017.11:10362272:G:T p.(Thr117Asn) NC_000017.11:10362272:G:T p.(Thr117Asn) NC_000017.11:10362272:G:T Identity +NM_001315507.2:c.347G>C NP_001302436.2:p.Ser116Thr NC_000008.11:17938743:G:C p.(Ser116Thr) NC_000008.11:17938743:G:C p.(Ser116Thr) NC_000008.11:17938743:G:C Identity +NM_024652.6:c.1688T>A NP_078928.3:p.Val563Asp NC_000015.10:101021130:T:A p.(Val563Asp) NC_000015.10:101021130:T:A p.(Val563Asp) NC_000015.10:101021130:T:A Identity +NM_001001916.2:c.758A>G NP_001001916.2:p.Tyr253Cys NC_000011.10:5047282:A:G p.(Tyr253Cys) NC_000011.10:5047282:A:G p.(Tyr253Cys) NC_000011.10:5047282:A:G Identity +NM_001199.4:c.1390C>T NP_001190.1:p.Arg464Trp NC_000008.11:22194536:C:T p.(Arg464Trp) NC_000008.11:22194536:C:T p.(Arg464Trp) NC_000008.11:22194536:C:T Identity +NM_001124.3:c.11T>A NP_001115.1:p.Val4Asp NC_000011.10:10305710:T:A p.(Val4Asp) NC_000011.10:10305710:T:A p.(Val4Asp) NC_000011.10:10305710:T:A Identity +NM_001370.2:c.3088G>A NP_001361.1:p.Asp1030Asn NC_000002.12:84605505:G:A p.(Asp1030Asn) NC_000002.12:84605505:G:A p.(Asp1030Asn) NC_000002.12:84605505:G:A Identity +NM_139055.4:c.1786C>T NP_620686.1:p.Arg596Trp NC_000011.10:130470984:C:T p.(Arg596Trp) NC_000011.10:130470984:C:T p.(Arg596Trp) NC_000011.10:130470984:C:T Identity +NM_001329998.2:c.5044G>A NP_001316927.1:p.Gly1682Arg NC_000003.12:36846394:C:T p.(Gly1682Arg) NC_000003.12:36846394:C:T p.(Gly1682Arg) NC_000003.12:36846394:C:T Identity +NM_001308319.2:c.6206C>T NP_001295248.1:p.Thr2069Ile NC_000016.10:53304211:C:T p.(Thr2069Ile) NC_000016.10:53304211:C:T p.(Thr2069Ile) NC_000016.10:53304211:C:T Identity +NM_015254.4:c.2195C>T NP_056069.2:p.Ser732Phe NC_000008.11:29142295:G:A p.(Ser732Phe) NC_000008.11:29142295:G:A p.(Ser732Phe) NC_000008.11:29142295:G:A Identity +NM_001159736.2:c.145A>G NP_001153208.1:p.Met49Val NC_000011.10:116770220:T:C p.(Met49Val) NC_000011.10:116770220:T:C p.(Met49Val) NC_000011.10:116770220:T:C Identity +NM_030876.6:c.658T>C NP_110503.3:p.Cys220Arg NC_000006.12:29355537:A:G p.(Cys220Arg) NC_000006.12:29355537:A:G p.(Cys220Arg) NC_000006.12:29355537:A:G Identity +NM_001365693.1:c.3065A>C NP_001352622.1:p.Lys1022Thr NC_000007.14:142052889:A:C p.(Lys1022Thr) NC_000007.14:142052889:A:C p.(Lys1022Thr) NC_000007.14:142052889:A:C Identity +NM_001256599.2:c.133G>C NP_001243528.1:p.Gly45Arg NC_000001.11:155175523:G:C p.(Gly45Arg) NC_000001.11:155175523:G:C p.(Gly45Arg) NC_000001.11:155175523:G:C Identity +NM_001004685.1:c.584A>G NP_001004685.1:p.Asn195Ser NC_000007.14:143935815:A:G p.(Asn195Ser) NC_000007.14:143935815:A:G p.(Asn195Ser) NC_000007.14:143935815:A:G Identity +NM_020859.4:c.1859C>T NP_065910.3:p.Ser620Phe NC_000004.12:76740031:C:T p.(Ser620Phe) NC_000004.12:76740031:C:T p.(Ser620Phe) NC_000004.12:76740031:C:T Identity +NM_001136045.1:c.538G>A NP_001129517.1:p.Glu180Lys NC_000017.11:28715097:C:T ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found ERR:AlignmentMapper(tx_ac=NM_001136045.1, alt_ac=NM_001136045.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001136045.1, alt_ac=NM_001136045.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001136045.1 not found +NM_001080428.3:c.1562C>G NP_001073897.2:p.Ala521Gly NC_000005.10:168126801:C:G p.(Ala521Gly) NC_000005.10:168126801:C:G p.(Ala521Gly) NC_000005.10:168126801:C:G Identity +NM_015512.5:c.10601T>C NP_056327.4:p.Met3534Thr NC_000003.12:52393459:T:C p.(Met3534Thr) NC_000003.12:52393459:T:C p.(Met3534Thr) NC_000003.12:52393459:T:C Identity +NM_001160364.2:c.1610C>T NP_001153836.1:p.Thr537Met NC_000016.10:19056609:C:T p.(Thr537Met) NC_000016.10:19056609:C:T p.(Thr537Met) NC_000016.10:19056609:C:T Identity +NM_145279.5:c.289G>C NP_660322.3:p.Glu97Gln NC_000001.11:46613032:C:G p.(Glu97Gln) NC_000001.11:46613032:C:G p.(Glu97Gln) NC_000001.11:46613032:C:G Identity +NM_001405661.1:c.497T>C NP_001392590.1:p.Phe166Ser NC_000013.11:112816137:T:C p.(Phe166Ser) NC_000013.11:112816137:T:C p.(Phe166Ser) NC_000013.11:112816137:T:C Identity +NM_001007553.3:c.1922A>G NP_001007554.1:p.Asn641Ser NC_000001.11:114720668:T:C p.(Asn641Ser) NC_000001.11:114720668:T:C p.(Asn641Ser) NC_000001.11:114720668:T:C Identity +NM_003505.2:c.175C>T NP_003496.1:p.Leu59Phe NC_000007.14:91265054:C:T p.(Leu59Phe) NC_000007.14:91265054:C:T p.(Leu59Phe) NC_000007.14:91265054:C:T Identity +NM_001144885.2:c.127C>T NP_001138357.1:p.Pro43Ser NC_000023.11:72302820:G:A p.(Pro43Ser) NC_000023.11:72302820:G:A p.(Pro43Ser) NC_000023.11:72302820:G:A Identity +NM_001256024.2:c.892A>C NP_001242953.1:p.Asn298His NC_000010.11:48454109:T:G p.(Asn298His) NC_000010.11:48454109:T:G p.(Asn298His) NC_000010.11:48454109:T:G Identity +NM_001142621.3:c.1756T>C NP_001136093.1:p.Tyr586His NC_000002.12:105273599:A:G p.(Tyr586His) NC_000002.12:105273599:A:G p.(Tyr586His) NC_000002.12:105273599:A:G Identity +NM_001136566.3:c.124G>A NP_001130038.2:p.Glu42Lys NC_000020.11:1228576:G:A p.(Glu42Lys) NC_000020.11:1228576:G:A p.(Glu42Lys) NC_000020.11:1228576:G:A Identity +NM_001001894.3:c.5609T>C NP_001001894.1:p.Val1870Ala NC_000021.9:37197598:T:C p.(Val1870Ala) NC_000021.9:37197598:T:C p.(Val1870Ala) NC_000021.9:37197598:T:C Identity +NM_001319116.2:c.572G>A NP_001306045.1:p.Arg191Gln NC_000002.12:219386009:C:T p.(Arg191Gln) NC_000002.12:219386009:C:T p.(Arg191Gln) NC_000002.12:219386009:C:T Identity +NM_002590.4:c.2911G>A NP_002581.2:p.Gly971Arg NC_000013.11:52844861:C:T p.(Gly971Arg) NC_000013.11:52844861:C:T p.(Gly971Arg) NC_000013.11:52844861:C:T Identity +NM_001270425.2:c.1663A>G NP_001257354.1:p.Ile555Val NC_000002.12:39278474:T:C p.(Ile555Val) NC_000002.12:39278474:T:C p.(Ile555Val) NC_000002.12:39278474:T:C Identity +NM_001278669.2:c.2204C>T NP_001265598.1:p.Ala735Val NC_000018.10:79486358:C:T p.(Ala735Val) NC_000018.10:79486358:C:T p.(Ala735Val) NC_000018.10:79486358:C:T Identity +NM_001290326.1:c.1652C>T NP_001277255.1:p.Ser551Leu NC_000004.12:143220343:C:T p.(Ser551Leu) NC_000004.12:143220343:C:T p.(Ser551Leu) NC_000004.12:143220343:C:T Identity +NM_001363647.2:c.308A>G NP_001350576.1:p.Glu103Gly NC_000013.11:20432264:T:C p.(Glu103Gly) NC_000013.11:20432264:T:C p.(Glu103Gly) NC_000013.11:20432264:T:C Identity +NM_145288.3:c.1379T>G NP_660331.1:p.Leu460Arg NC_000019.10:45071649:A:C p.(Leu460Arg) NC_000019.10:45071649:A:C p.(Leu460Arg) NC_000019.10:45071649:A:C Identity +NM_001039792.2:c.184C>G NP_001034881.1:p.Arg62Gly NC_000009.12:35906470:C:G p.(Arg62Gly) NC_000009.12:35906470:C:G p.(Arg62Gly) NC_000009.12:35906470:C:G Identity +NM_024642.5:c.145G>A NP_078918.3:p.Glu49Lys NC_000009.12:98807842:G:A p.(Glu49Lys) NC_000009.12:98807842:G:A p.(Glu49Lys) NC_000009.12:98807842:G:A Identity +NM_001242314.2:c.44A>G NP_001229243.1:p.His15Arg NC_000003.12:185428624:A:G p.(His15Arg) NC_000003.12:185428624:A:G p.(His15Arg) NC_000003.12:185428624:A:G Identity +NM_001320227.2:c.381A>T NP_001307156.1:p.Gln127His NC_000003.12:161234749:A:T p.(Gln127His) NC_000003.12:161234749:A:T p.(Gln127His) NC_000003.12:161234749:A:T Identity +NM_004535.3:c.1913C>T NP_004526.1:p.Thr638Met NC_000020.11:64218976:C:T p.(Thr638Met) NC_000020.11:64218976:C:T p.(Thr638Met) NC_000020.11:64218976:C:T Identity +NM_001042603.3:c.2234G>A NP_001036068.1:p.Arg745His NC_000012.12:323122:C:T p.(Arg745His) NC_000012.12:323122:C:T p.(Arg745His) NC_000012.12:323122:C:T Identity +NM_134325.3:c.2375A>G NP_599152.2:p.Glu792Gly NC_000001.11:205915180:T:C p.(Glu792Gly) NC_000001.11:205915180:T:C p.(Glu792Gly) NC_000001.11:205915180:T:C Identity +NM_020987.5:c.11581C>G NP_066267.2:p.Gln3861Glu NC_000010.11:60069299:G:C p.(Gln3861Glu) NC_000010.11:60069299:G:C p.(Gln3861Glu) NC_000010.11:60069299:G:C Identity +NM_181885.3:c.343A>G NP_871001.1:p.Lys115Glu NC_000001.11:155942051:A:G p.(Lys115Glu) NC_000001.11:155942051:A:G p.(Lys115Glu) NC_000001.11:155942051:A:G Identity +NM_013448.3:c.2546A>G NP_038476.2:p.Gln849Arg NC_000014.9:34776205:T:C p.(Gln849Arg) NC_000014.9:34776205:T:C p.(Gln849Arg) NC_000014.9:34776205:T:C Identity +NM_030819.4:c.899C>T NP_110446.3:p.Pro300Leu NC_000016.10:67675413:G:A p.(Pro300Leu) NC_000016.10:67675413:G:A p.(Pro300Leu) NC_000016.10:67675413:G:A Identity +NM_007184.4:c.3320C>T NP_009115.3:p.Pro1107Leu NC_000003.12:52489541:C:T p.(Pro1107Leu) NC_000003.12:52489541:C:T p.(Pro1107Leu) NC_000003.12:52489541:C:T Identity +NM_020340.5:c.4271G>A NP_065073.3:p.Arg1424Gln NC_000006.12:138313864:G:A p.(Arg1424Gln) NC_000006.12:138313864:G:A p.(Arg1424Gln) NC_000006.12:138313864:G:A Identity +NM_001354210.2:c.736G>A NP_001341139.1:p.Val246Ile NC_000004.12:113903337:C:T p.(Val246Ile) NC_000004.12:113903337:C:T p.(Val246Ile) NC_000004.12:113903337:C:T Identity +NM_018915.4:c.1024G>A NP_061738.1:p.Asp342Asn NC_000005.10:141339994:G:A p.(Asp342Asn) NC_000005.10:141339994:G:A p.(Asp342Asn) NC_000005.10:141339994:G:A Identity +NM_001004063.3:c.457G>T NP_001004063.2:p.Val153Phe NC_000014.9:19936122:G:T p.(Val153Phe) NC_000014.9:19936122:G:T p.(Val153Phe) NC_000014.9:19936122:G:T Identity +NM_005630.3:c.1772G>A NP_005621.2:p.Arg591Gln NC_000003.12:133935815:C:T p.(Arg591Gln) NC_000003.12:133935815:C:T p.(Arg591Gln) NC_000003.12:133935815:C:T Identity +NM_052905.4:c.2707G>A NP_443137.2:p.Val903Ile NC_000002.12:152636452:G:A p.(Val903Ile) NC_000002.12:152636452:G:A p.(Val903Ile) NC_000002.12:152636452:G:A Identity +NM_001204869.2:c.28G>A NP_001191798.1:p.Ala10Thr NC_000008.11:133191171:G:A p.(Ala10Thr) NC_000008.11:133191171:G:A p.(Ala10Thr) NC_000008.11:133191171:G:A Identity +NM_001127204.2:c.139C>T NP_001120676.1:p.Arg47Trp NC_000016.10:4506946:C:T p.(Arg47Trp) NC_000016.10:4506946:C:T p.(Arg47Trp) NC_000016.10:4506946:C:T Identity +NM_003386.3:c.3444C>A NP_003377.2:p.His1148Gln NC_000007.14:100758335:C:A p.(His1148Gln) NC_000007.14:100758335:C:A p.(His1148Gln) NC_000007.14:100758335:C:A Identity +NM_173549.3:c.410G>A NP_775820.2:p.Gly137Glu NC_000008.11:98089426:G:A p.(Gly137Glu) NC_000008.11:98089426:G:A p.(Gly137Glu) NC_000008.11:98089426:G:A Identity +NM_001093.4:c.6908C>T NP_001084.3:p.Thr2303Ile NC_000012.12:109264351:C:T p.(Thr2303Ile) NC_000012.12:109264351:C:T p.(Thr2303Ile) NC_000012.12:109264351:C:T Identity +NM_001301054.2:c.1241G>T NP_001287983.1:p.Arg414Leu NC_000005.10:149368460:G:T p.(Arg414Leu) NC_000005.10:149368460:G:T p.(Arg414Leu) NC_000005.10:149368460:G:T Identity +NM_017839.5:c.553G>C NP_060309.2:p.Val185Leu NC_000016.10:55529857:G:C p.(Val185Leu) NC_000016.10:55529857:G:C p.(Val185Leu) NC_000016.10:55529857:G:C Identity +NM_001329761.2:c.35C>T NP_001316690.1:p.Ala12Val NC_000019.10:37347190:C:T p.(Ala12Val) NC_000019.10:37347190:C:T p.(Ala12Val) NC_000019.10:37347190:C:T Identity +NM_001096.3:c.2786T>C NP_001087.2:p.Leu929Pro NC_000017.11:41872038:A:G p.(Leu929Pro) NC_000017.11:41872038:A:G p.(Leu929Pro) NC_000017.11:41872038:A:G Identity +NM_033054.3:c.677C>T NP_149043.2:p.Ala226Val NC_000007.14:44972166:G:A p.(Ala226Val) NC_000007.14:44972166:G:A p.(Ala226Val) NC_000007.14:44972166:G:A Identity +NM_001142614.2:c.2393C>T NP_001136086.1:p.Ala798Val NC_000002.12:62955592:C:T p.(Ala798Val) NC_000002.12:62955592:C:T p.(Ala798Val) NC_000002.12:62955592:C:T Identity +NM_176820.4:c.902C>T NP_789790.2:p.Ser301Phe NC_000019.10:55732928:G:A p.(Ser301Phe) NC_000019.10:55732928:G:A p.(Ser301Phe) NC_000019.10:55732928:G:A Identity +NM_001163484.2:c.55G>T NP_001156956.1:p.Gly19Cys NC_000014.9:24115648:G:T p.(Gly19Cys) NC_000014.9:24115648:G:T p.(Gly19Cys) NC_000014.9:24115648:G:T Identity +NM_152429.5:c.368C>T NP_689642.3:p.Pro123Leu NC_000010.11:91908601:G:A p.(Pro123Leu) NC_000010.11:91908601:G:A p.(Pro123Leu) NC_000010.11:91908601:G:A Identity +NM_001315532.2:c.286G>A NP_001302461.1:p.Gly96Ser NC_000022.11:36813663:C:T p.(Gly96Ser) NC_000022.11:36813663:C:T p.(Gly96Ser) NC_000022.11:36813663:C:T Identity +NM_018670.4:c.309C>G NP_061140.1:p.His103Gln NC_000015.10:89750922:G:C p.(His103Gln) NC_000015.10:89750922:G:C p.(His103Gln) NC_000015.10:89750922:G:C Identity +NM_001127892.2:c.1480G>A NP_001121364.1:p.Val494Ile NC_000016.10:51140450:C:T p.(Val494Ile) NC_000016.10:51140450:C:T p.(Val494Ile) NC_000016.10:51140450:C:T Identity +NM_001040113.2:c.5051A>C NP_001035202.1:p.Glu1684Ala NC_000016.10:15719636:T:G p.(Glu1684Ala) NC_000016.10:15719636:T:G p.(Glu1684Ala) NC_000016.10:15719636:T:G Identity +NM_001170686.4:c.2464G>A NP_001164157.3:p.Gly822Arg NC_000001.11:1629478:G:A p.(Gly822Arg) NC_000001.11:1629478:G:A p.(Gly822Arg) NC_000001.11:1629478:G:A Identity +NM_031439.4:c.383G>C NP_113627.1:p.Arg128Pro NC_000008.11:10726521:C:G p.(Arg128Pro) NC_000008.11:10726521:C:G p.(Arg128Pro) NC_000008.11:10726521:C:G Identity +NM_003801.4:c.844G>A NP_003792.1:p.Gly282Arg NC_000008.11:144084442:G:A p.(Gly282Arg) NC_000008.11:144084442:G:A p.(Gly282Arg) NC_000008.11:144084442:G:A Identity +NM_001289002.2:c.107A>G NP_001275931.1:p.Lys36Arg NC_000005.10:102498737:T:C p.(Lys36Arg) NC_000005.10:102498737:T:C p.(Lys36Arg) NC_000005.10:102498737:T:C Identity +NM_001363597.2:c.924G>T NP_001350526.1:p.Glu308Asp NC_000011.10:74634616:G:T p.(Glu308Asp) NC_000011.10:74634616:G:T p.(Glu308Asp) NC_000011.10:74634616:G:T Identity +NM_153834.4:c.7190G>A NP_722576.3:p.Gly2397Glu NC_000023.11:136361499:G:A p.(Gly2397Glu) NC_000023.11:136361499:G:A p.(Gly2397Glu) NC_000023.11:136361499:G:A Identity +NM_001145446.2:c.608G>A NP_001138918.1:p.Arg203Gln NC_000016.10:3224468:C:T p.(Arg203Gln) NC_000016.10:3224468:C:T p.(Arg203Gln) NC_000016.10:3224468:C:T Identity +NM_001178137.2:c.218T>C NP_001171608.1:p.Met73Thr NC_000010.11:92240132:A:G p.(Met73Thr) NC_000010.11:92240132:A:G p.(Met73Thr) NC_000010.11:92240132:A:G Identity +NM_001252338.2:c.2315T>C NP_001239267.1:p.Val772Ala NC_000020.11:61934101:T:C p.(Val772Ala) NC_000020.11:61934101:T:C p.(Val772Ala) NC_000020.11:61934101:T:C Identity +NM_001942.4:c.2612C>T NP_001933.2:p.Pro871Leu NC_000018.10:31354807:C:T p.(Pro871Leu) NC_000018.10:31354807:C:T p.(Pro871Leu) NC_000018.10:31354807:C:T Identity +NM_152686.4:c.580A>C NP_689899.1:p.Asn194His NC_000005.10:139425093:T:G p.(Asn194His) NC_000005.10:139425093:T:G p.(Asn194His) NC_000005.10:139425093:T:G Identity +NM_080833.3:c.589C>T NP_543023.2:p.Pro197Ser NC_000020.11:62415615:G:A p.(Pro197Ser) NC_000020.11:62415615:G:A p.(Pro197Ser) NC_000020.11:62415615:G:A Identity +NM_001305105.2:c.127G>T NP_001292034.1:p.Gly43Cys NC_000019.10:49851454:G:T p.(Gly43Cys) NC_000019.10:49851454:G:T p.(Gly43Cys) NC_000019.10:49851454:G:T Identity +NM_001384354.1:c.3784T>C NP_001371283.1:p.Ser1262Pro NC_000020.11:59195913:T:C p.(Ser1262Pro) NC_000020.11:59195913:T:C p.(Ser1262Pro) NC_000020.11:59195913:T:C Identity +NM_001271977.2:c.953T>G NP_001258906.1:p.Ile318Ser NC_000002.12:241498313:A:C p.(Ile318Ser) NC_000002.12:241498313:A:C p.(Ile318Ser) NC_000002.12:241498313:A:C Identity +NM_182640.3:c.25G>A NP_872578.1:p.Gly9Ser NC_000002.12:105038116:G:A p.(Gly9Ser) NC_000002.12:105038116:G:A p.(Gly9Ser) NC_000002.12:105038116:G:A Identity +NM_001199818.1:c.441G>T NP_001186747.1:p.Gln147His NC_000023.11:102715309:G:T p.(Gln147His) NC_000023.11:102715309:G:T p.(Gln147His) NC_000023.11:102715309:G:T Identity +NM_001572.5:c.78C>G NP_001563.2:p.Cys26Trp NC_000011.10:615201:G:C p.(Cys26Trp) NC_000011.10:615201:G:C p.(Cys26Trp) NC_000011.10:615201:G:C Identity +NM_006834.5:c.373G>T NP_006825.1:p.Asp125Tyr NC_000006.12:146549585:G:T p.(Asp125Tyr) NC_000006.12:146549585:G:T p.(Asp125Tyr) NC_000006.12:146549585:G:T Identity +NM_001367089.1:c.4142A>T NP_001354018.1:p.His1381Leu NC_000020.11:3692090:T:A p.(His1381Leu) NC_000020.11:3692090:T:A p.(His1381Leu) NC_000020.11:3692090:T:A Identity +NM_001080779.2:c.2884G>A NP_001074248.1:p.Ala962Thr NC_000017.11:1467999:C:T p.(Ala962Thr) NC_000017.11:1467999:C:T p.(Ala962Thr) NC_000017.11:1467999:C:T Identity +NM_000081.4:c.6104A>G NP_000072.2:p.Tyr2035Cys NC_000001.11:235766095:T:C p.(Tyr2035Cys) NC_000001.11:235766095:T:C p.(Tyr2035Cys) NC_000001.11:235766095:T:C Identity +NM_001080442.3:c.94A>G NP_001073911.1:p.Ile32Val NC_000016.10:84042063:T:C p.(Ile32Val) NC_000016.10:84042063:T:C p.(Ile32Val) NC_000016.10:84042063:T:C Identity +NM_001393637.1:c.986G>A NP_001380566.1:p.Arg329Gln NC_000019.10:13959248:G:A p.(Arg329Gln) NC_000019.10:13959248:G:A p.(Arg329Gln) NC_000019.10:13959248:G:A Identity +NM_033059.4:c.368A>C NP_149048.2:p.Gln123Pro NC_000017.11:41117947:T:G p.(Gln123Pro) NC_000017.11:41117947:T:G p.(Gln123Pro) NC_000017.11:41117947:T:G Identity +NM_001039574.3:c.1745G>A NP_001034663.1:p.Arg582Lys NC_000001.11:110226103:G:A p.(Arg582Lys) NC_000001.11:110226103:G:A p.(Arg582Lys) NC_000001.11:110226103:G:A Identity +NM_001171195.2:c.47A>G NP_001164666.1:p.Asn16Ser NC_000009.12:23762187:T:C p.(Asn16Ser) NC_000009.12:23762187:T:C p.(Asn16Ser) NC_000009.12:23762187:T:C Identity +NM_001077511.2:c.583A>C NP_001070979.1:p.Ser195Arg NC_000006.12:31161790:A:C p.(Ser195Arg) NC_000006.12:31161790:A:C p.(Ser195Arg) NC_000006.12:31161790:A:C Identity +NM_001317785.2:c.914T>C NP_001304714.1:p.Ile305Thr NC_000007.14:75996495:A:G p.(Ile305Thr) NC_000007.14:75996495:A:G p.(Ile305Thr) NC_000007.14:75996495:A:G Identity +NM_001098796.2:c.700G>A NP_001092266.1:p.Val234Met NC_000020.11:44054472:G:A p.(Val234Met) NC_000020.11:44054472:G:A p.(Val234Met) NC_000020.11:44054472:G:A Identity +NM_000339.3:c.1556T>C NP_000330.3:p.Phe519Ser NC_000016.10:56880241:T:C p.(Phe519Ser) NC_000016.10:56880241:T:C p.(Phe519Ser) NC_000016.10:56880241:T:C Identity +NM_000249.4:c.1065del NP_000240.1:p.Ser356fs NC_000003.12:37025659:CCCC:CCC p.(Ser356LeufsTer11) NC_000003.12:37025659:CCCC:CCC p.(Ser356LeufsTer11) NC_000003.12:37025662:C: Analogous +NM_016128.4:c.1885C>T NP_057212.1:p.Leu629Phe NC_000003.12:129271807:C:T p.(Leu629Phe) NC_000003.12:129271807:C:T p.(Leu629Phe) NC_000003.12:129271807:C:T Identity +NM_005273.4:c.316G>A NP_005264.2:p.Ala106Thr NC_000007.14:100677545:G:A p.(Ala106Thr) NC_000007.14:100677545:G:A p.(Ala106Thr) NC_000007.14:100677545:G:A Identity +NM_001173482.1:c.431G>A NP_001166953.1:p.Arg144Gln NC_000003.12:3172868:C:T p.(Arg144Gln) NC_000003.12:3172868:C:T p.(Arg144Gln) NC_000003.12:3172868:C:T Identity +NM_001158261.2:c.400G>A NP_001151733.1:p.Ala134Thr NC_000017.11:8741565:C:T p.(Ala134Thr) NC_000017.11:8741565:C:T p.(Ala134Thr) NC_000017.11:8741565:C:T Identity +NM_001091.4:c.1453G>A NP_001082.2:p.Val485Ile NC_000007.14:150857922:G:A p.(Val485Ile) NC_000007.14:150857922:G:A p.(Val485Ile) NC_000007.14:150857922:G:A Identity +NM_001142864.4:c.4672G>A NP_001136336.2:p.Gly1558Ser NC_000016.10:88722685:C:T p.(Gly1558Ser) NC_000016.10:88722685:C:T p.(Gly1558Ser) NC_000016.10:88722685:C:T Identity +NM_001002837.3:c.482C>T NP_001002837.1:p.Thr161Met NC_000022.11:31127011:C:T p.(Thr161Met) NC_000022.11:31127011:C:T p.(Thr161Met) NC_000022.11:31127011:C:T Identity +NM_006437.4:c.5093C>T NP_006428.2:p.Ser1698Phe NC_000013.11:24421200:G:A p.(Ser1698Phe) NC_000013.11:24421200:G:A p.(Ser1698Phe) NC_000013.11:24421200:G:A Identity +NM_001024647.3:c.439C>G NP_001019818.1:p.Leu147Val NC_000012.12:69801647:C:G p.(Leu147Val) NC_000012.12:69801647:C:G p.(Leu147Val) NC_000012.12:69801647:C:G Identity +NM_001199144.2:c.4747G>A NP_001186073.1:p.Glu1583Lys NC_000002.12:167246804:G:A p.(Glu1583Lys) NC_000002.12:167246804:G:A p.(Glu1583Lys) NC_000002.12:167246804:G:A Identity +NM_001101667.2:c.546A>T NP_001095137.1:p.Glu182Asp NC_000004.12:8410352:T:A p.(Glu182Asp) NC_000004.12:8410352:T:A p.(Glu182Asp) NC_000004.12:8410352:T:A Identity +NM_024015.5:c.24C>G NP_076920.1:p.Ile8Met NC_000017.11:48578295:G:C p.(Ile8Met) NC_000017.11:48578295:G:C p.(Ile8Met) NC_000017.11:48578295:G:C Identity +NM_017553.3:c.4493G>A NP_060023.1:p.Arg1498Gln NC_000015.10:40980400:C:T p.(Arg1498Gln) NC_000015.10:40980400:C:T p.(Arg1498Gln) NC_000015.10:40980400:C:T Identity +NM_001004019.2:c.653C>T NP_001004019.1:p.Ala218Val NC_000003.12:13571007:C:T p.(Ala218Val) NC_000003.12:13571007:C:T p.(Ala218Val) NC_000003.12:13571007:C:T Identity +NM_024098.4:c.452A>G NP_077003.1:p.Gln151Arg NC_000011.10:60842575:A:G p.(Gln151Arg) NC_000011.10:60842575:A:G p.(Gln151Arg) NC_000011.10:60842575:A:G Identity +NM_174919.4:c.733G>A NP_777579.2:p.Glu245Lys NC_000017.11:45429546:C:T p.(Glu245Lys) NC_000017.11:45429546:C:T p.(Glu245Lys) NC_000017.11:45429546:C:T Identity +NM_001144989.2:c.296C>T NP_001138461.1:p.Pro99Leu NC_000019.10:57875093:G:A p.(Pro99Leu) NC_000019.10:57875093:G:A p.(Pro99Leu) NC_000019.10:57875093:G:A Identity +NM_015719.4:c.394C>T NP_056534.2:p.Pro132Ser NC_000019.10:10005838:G:A p.(Pro132Ser) NC_000019.10:10005838:G:A p.(Pro132Ser) NC_000019.10:10005838:G:A Identity +NM_001001894.3:c.2986A>G NP_001001894.1:p.Ile996Val NC_000021.9:37156899:A:G p.(Ile996Val) NC_000021.9:37156899:A:G p.(Ile996Val) NC_000021.9:37156899:A:G Identity +NM_001042517.2:c.3371A>G NP_001035982.1:p.Asn1124Ser NC_000013.11:59666794:T:C p.(Asn1124Ser) NC_000013.11:59666794:T:C p.(Asn1124Ser) NC_000013.11:59666794:T:C Identity +NM_001194.4:c.2318G>C NP_001185.3:p.Gly773Ala NC_000019.10:616121:G:C p.(Gly773Ala) NC_000019.10:616121:G:C p.(Gly773Ala) NC_000019.10:616121:G:C Identity +NM_001286725.2:c.1900G>T NP_001273654.1:p.Val634Phe NC_000013.11:69707728:C:A p.(Val634Phe) NC_000013.11:69707728:C:A p.(Val634Phe) NC_000013.11:69707728:C:A Identity +NM_173651.4:c.15572T>C NP_775922.3:p.Val5191Ala NC_000002.12:185804877:T:C p.(Val5191Ala) NC_000002.12:185804877:T:C p.(Val5191Ala) NC_000002.12:185804877:T:C Identity +NM_031296.3:c.94C>T NP_112586.1:p.Arg32Cys NC_000004.12:139454288:C:T p.(Arg32Cys) NC_000004.12:139454288:C:T p.(Arg32Cys) NC_000004.12:139454288:C:T Identity +NM_002250.3:c.790A>C NP_002241.1:p.Lys264Gln NC_000019.10:43772028:T:G p.(Lys264Gln) NC_000019.10:43772028:T:G p.(Lys264Gln) NC_000019.10:43772028:T:G Identity +NM_018992.4:c.604C>T NP_061865.1:p.Leu202Phe NC_000016.10:2702406:C:T p.(Leu202Phe) NC_000016.10:2702406:C:T p.(Leu202Phe) NC_000016.10:2702406:C:T Identity +NM_000445.5:c.1574C>T NP_000436.2:p.Ala525Val NC_000008.11:143933036:G:A p.(Ala525Val) NC_000008.11:143933036:G:A p.(Ala525Val) NC_000008.11:143933036:G:A Identity +NM_003061.3:c.4504C>T NP_003052.2:p.Arg1502Trp NC_000010.11:97001212:G:A p.(Arg1502Trp) NC_000010.11:97001212:G:A p.(Arg1502Trp) NC_000010.11:97001212:G:A Identity +NM_001350929.2:c.6734C>T NP_001337858.1:p.Ala2245Val NC_000014.9:104948416:G:A p.(Ala2245Val) NC_000014.9:104948416:G:A p.(Ala2245Val) NC_000014.9:104948416:G:A Identity +NM_001289003.1:c.3346C>T NP_001275932.1:p.Pro1116Ser NC_000016.10:71649314:G:A p.(Pro1116Ser) NC_000016.10:71649314:G:A p.(Pro1116Ser) NC_000016.10:71649314:G:A Identity +NM_005372.1:c.539A>C NP_005363.1:p.Lys180Thr NC_000008.11:56113443:T:G p.(Lys180Thr) NC_000008.11:56113443:T:G p.(Lys180Thr) NC_000008.11:56113443:T:G Identity +NM_001004065.4:c.1589G>A NP_001004065.2:p.Arg530Gln NC_000009.12:110137558:G:A p.(Arg530Gln) NC_000009.12:110137558:G:A p.(Arg530Gln) NC_000009.12:110137558:G:A Identity +NM_001404.5:c.100G>A NP_001395.1:p.Ala34Thr NC_000011.10:62572654:C:T p.(Ala34Thr) NC_000011.10:62572654:C:T p.(Ala34Thr) NC_000011.10:62572654:C:T Identity +NM_001371783.1:c.464G>A NP_001358712.1:p.Gly155Asp NC_000002.12:100299790:C:T p.(Gly155Asp) NC_000002.12:100299790:C:T p.(Gly155Asp) NC_000002.12:100299790:C:T Identity +NM_001270399.2:c.128G>T NP_001257328.1:p.Gly43Val NC_000012.12:49186708:C:A p.(Gly43Val) NC_000012.12:49186708:C:A p.(Gly43Val) NC_000012.12:49186708:C:A Identity +NM_001376864.1:c.1828T>C NP_001363793.1:p.Tyr610His NC_000022.11:50286221:A:G p.(Tyr610His) NC_000022.11:50286221:A:G p.(Tyr610His) NC_000022.11:50286221:A:G Identity +NM_207361.6:c.7246A>C NP_997244.4:p.Lys2416Gln NC_000013.11:38859316:A:C p.(Lys2416Gln) NC_000013.11:38859316:A:C p.(Lys2416Gln) NC_000013.11:38859316:A:C Identity +NM_000676.4:c.71G>A NP_000667.1:p.Gly24Asp NC_000017.11:15945318:G:A p.(Gly24Asp) NC_000017.11:15945318:G:A p.(Gly24Asp) NC_000017.11:15945318:G:A Identity +NM_032233.3:c.1351G>A NP_115609.2:p.Val451Ile NC_000014.9:99399112:C:T p.(Val451Ile) NC_000014.9:99399112:C:T p.(Val451Ile) NC_000014.9:99399112:C:T Identity +NM_153810.5:c.178G>C NP_722517.3:p.Val60Leu NC_000010.11:118754584:C:G p.(Val60Leu) NC_000010.11:118754584:C:G p.(Val60Leu) NC_000010.11:118754584:C:G Identity +NM_012384.5:c.1463A>G NP_036516.1:p.Gln488Arg NC_000020.11:63590218:T:C p.(Gln488Arg) NC_000020.11:63590218:T:C p.(Gln488Arg) NC_000020.11:63590218:T:C Identity +NM_152309.3:c.1559A>T NP_689522.2:p.Glu520Val NC_000010.11:96626817:T:A p.(Glu520Val) NC_000010.11:96626817:T:A p.(Glu520Val) NC_000010.11:96626817:T:A Identity +NM_013448.3:c.2564T>A NP_038476.2:p.Val855Glu NC_000014.9:34776187:A:T p.(Val855Glu) NC_000014.9:34776187:A:T p.(Val855Glu) NC_000014.9:34776187:A:T Identity +NM_030981.3:c.295G>A NP_112243.1:p.Val99Met NC_000011.10:66275818:G:A p.(Val99Met) NC_000011.10:66275818:G:A p.(Val99Met) NC_000011.10:66275818:G:A Identity +NM_022117.4:c.620G>T NP_071400.1:p.Arg207Ile NC_000023.11:53083117:G:T p.(Arg207Ile) NC_000023.11:53083117:G:T p.(Arg207Ile) NC_000023.11:53083117:G:T Identity +NM_001131067.1:c.1823T>C NP_001124539.1:p.Leu608Pro NC_000019.10:45151974:A:G ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found +NM_001001895.3:c.1575C>A NP_001001895.1:p.Asp525Glu NC_000021.9:42443368:C:A p.(Asp525Glu) NC_000021.9:42443368:C:A p.(Asp525Glu) NC_000021.9:42443368:C:A Identity +NM_001128228.3:c.880A>C NP_001121700.2:p.Asn294His NC_000009.12:137199831:T:G p.(Asn294His) NC_000009.12:137199831:T:G p.(Asn294His) NC_000009.12:137199831:T:G Identity +NM_001282795.2:c.154G>T NP_001269724.1:p.Ala52Ser NC_000008.11:144829594:G:T p.(Ala52Ser) NC_000008.11:144829594:G:T p.(Ala52Ser) NC_000008.11:144829594:G:T Identity +NM_000529.2:c.869T>A NP_000520.1:p.Met290Lys NC_000018.10:13884649:A:T p.(Met290Lys) NC_000018.10:13884649:A:T p.(Met290Lys) NC_000018.10:13884649:A:T Identity +NM_014825.3:c.673C>T NP_055640.2:p.Pro225Ser NC_000021.9:32375474:G:A p.(Pro225Ser) NC_000021.9:32375474:G:A p.(Pro225Ser) NC_000021.9:32375474:G:A Identity +NM_001031715.3:c.125A>G NP_001026885.2:p.Asp42Gly NC_000015.10:67261344:A:G p.(Asp42Gly) NC_000015.10:67261344:A:G p.(Asp42Gly) NC_000015.10:67261344:A:G Identity +NM_001024383.2:c.4286C>A NP_001019554.1:p.Thr1429Asn NC_000012.12:78128710:C:A p.(Thr1429Asn) NC_000012.12:78128710:C:A p.(Thr1429Asn) NC_000012.12:78128710:C:A Identity +NM_001002907.1:c.191C>A NP_001002907.1:p.Pro64His NC_000011.10:56346228:C:A p.(Pro64His) NC_000011.10:56346228:C:A p.(Pro64His) NC_000011.10:56346228:C:A Identity +NM_001430.5:c.2374G>T NP_001421.2:p.Gly792Trp NC_000002.12:46382510:G:T p.(Gly792Trp) NC_000002.12:46382510:G:T p.(Gly792Trp) NC_000002.12:46382510:G:T Identity +NM_001329903.2:c.812G>C NP_001316832.1:p.Ser271Thr NC_000017.11:1776556:G:C p.(Ser271Thr) NC_000017.11:1776556:G:C p.(Ser271Thr) NC_000017.11:1776556:G:C Identity +NM_001135197.2:c.699G>T NP_001128669.1:p.Gln233His NC_000003.12:49256195:G:T p.(Gln233His) NC_000003.12:49256195:G:T p.(Gln233His) NC_000003.12:49256195:G:T Identity +NM_001199207.2:c.1504C>T NP_001186136.1:p.Arg502Trp NC_000007.14:74536273:C:T p.(Arg502Trp) NC_000007.14:74536273:C:T p.(Arg502Trp) NC_000007.14:74536273:C:T Identity +NM_173651.4:c.11248G>T NP_775922.3:p.Val3750Phe NC_000002.12:185800553:G:T p.(Val3750Phe) NC_000002.12:185800553:G:T p.(Val3750Phe) NC_000002.12:185800553:G:T Identity +NM_001802.2:c.1237G>T NP_001793.1:p.Val413Leu NC_000016.10:22347092:C:A p.(Val413Leu) NC_000016.10:22347092:C:A p.(Val413Leu) NC_000016.10:22347092:C:A Identity +NM_001081.4:c.2876C>T NP_001072.2:p.Thr959Ile NC_000010.11:17068195:G:A p.(Thr959Ile) NC_000010.11:17068195:G:A p.(Thr959Ile) NC_000010.11:17068195:G:A Identity +NM_024119.3:c.1816C>G NP_077024.2:p.Pro606Ala NC_000017.11:42102250:G:C p.(Pro606Ala) NC_000017.11:42102250:G:C p.(Pro606Ala) NC_000017.11:42102250:G:C Identity +NM_001320044.2:c.2554G>A NP_001306973.1:p.Asp852Asn NC_000003.12:47414636:C:T p.(Asp852Asn) NC_000003.12:47414636:C:T p.(Asp852Asn) NC_000003.12:47414636:C:T Identity +NM_052888.3:c.193C>T NP_443120.2:p.Pro65Ser NC_000017.11:32021338:C:T p.(Pro65Ser) NC_000017.11:32021338:C:T p.(Pro65Ser) NC_000017.11:32021338:C:T Identity +NM_201269.3:c.2555G>A NP_958357.1:p.Ser852Asn NC_000001.11:90938798:C:T p.(Ser852Asn) NC_000001.11:90938798:C:T p.(Ser852Asn) NC_000001.11:90938798:C:T Identity +NM_001271043.2:c.185G>A NP_001257972.1:p.Arg62Gln NC_000019.10:13025153:G:A p.(Arg62Gln) NC_000019.10:13025153:G:A p.(Arg62Gln) NC_000019.10:13025153:G:A Identity +NM_016642.4:c.7541A>G NP_057726.4:p.Glu2514Gly NC_000015.10:41862136:T:C p.(Glu2514Gly) NC_000015.10:41862136:T:C p.(Glu2514Gly) NC_000015.10:41862136:T:C Identity +NM_021079.5:c.229C>A NP_066565.1:p.Gln77Lys NC_000017.11:45081740:C:A p.(Gln77Lys) NC_000017.11:45081740:C:A p.(Gln77Lys) NC_000017.11:45081740:C:A Identity +NM_001130081.3:c.916C>T NP_001123553.1:p.Leu306Phe NC_000003.12:171709704:G:A p.(Leu306Phe) NC_000003.12:171709704:G:A p.(Leu306Phe) NC_000003.12:171709704:G:A Identity +NM_014752.3:c.563A>G NP_055567.2:p.Glu188Gly NC_000011.10:74976924:A:G p.(Glu188Gly) NC_000011.10:74976924:A:G p.(Glu188Gly) NC_000011.10:74976924:A:G Identity +NM_052902.4:c.845G>T NP_443134.3:p.Arg282Leu NC_000002.12:219606054:G:T p.(Arg282Leu) NC_000002.12:219606054:G:T p.(Arg282Leu) NC_000002.12:219606054:G:T Identity +NM_001154458.3:c.445A>G NP_001147930.1:p.Arg149Gly NC_000016.10:4783695:T:C p.(Arg149Gly) NC_000016.10:4783695:T:C p.(Arg149Gly) NC_000016.10:4783695:T:C Identity +NM_198180.3:c.104G>A NP_937823.1:p.Gly35Glu NC_000009.12:130893734:C:T p.(Gly35Glu) NC_000009.12:130893734:C:T p.(Gly35Glu) NC_000009.12:130893734:C:T Identity +NM_001099666.2:c.754G>A NP_001093136.1:p.Val252Met NC_000009.12:69723518:C:T p.(Val252Met) NC_000009.12:69723518:C:T p.(Val252Met) NC_000009.12:69723518:C:T Identity +NM_173647.4:c.770A>G NP_775918.2:p.His257Arg NC_000002.12:101294023:T:C p.(His257Arg) NC_000002.12:101294023:T:C p.(His257Arg) NC_000002.12:101294023:T:C Identity +NM_016354.4:c.398G>A NP_057438.3:p.Arg133His NC_000020.11:62656851:G:A p.(Arg133His) NC_000020.11:62656851:G:A p.(Arg133His) NC_000020.11:62656851:G:A Identity +NM_016609.7:c.394C>T NP_057693.4:p.Pro132Ser NC_000014.9:23352153:G:A p.(Pro132Ser) NC_000014.9:23352153:G:A p.(Pro132Ser) NC_000014.9:23352153:G:A Identity +NM_001083900.1:c.8039T>C NP_001077369.1:p.Met2680Thr NC_000012.12:123879283:T:C ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001122819.3:c.2804A>T NP_001116291.1:p.Tyr935Phe NC_000001.11:20666317:T:A p.(Tyr935Phe) NC_000001.11:20666317:T:A p.(Tyr935Phe) NC_000001.11:20666317:T:A Identity +NM_033395.2:c.1931A>T NP_203753.1:p.His644Leu NC_000011.10:93696842:A:T p.(His644Leu) NC_000011.10:93696842:A:T p.(His644Leu) NC_000011.10:93696842:A:T Identity +NM_001079843.3:c.3506G>T NP_001073312.1:p.Cys1169Phe NC_000001.11:10646317:C:A p.(Cys1169Phe) NC_000001.11:10646317:C:A p.(Cys1169Phe) NC_000001.11:10646317:C:A Identity +NM_001144034.2:c.199C>G NP_001137506.1:p.Leu67Val NC_000011.10:118532277:C:G p.(Leu67Val) NC_000011.10:118532277:C:G p.(Leu67Val) NC_000011.10:118532277:C:G Identity +NM_017805.3:c.1217T>C NP_060275.2:p.Val406Ala NC_000019.10:48729552:A:G p.(Val406Ala) NC_000019.10:48729552:A:G p.(Val406Ala) NC_000019.10:48729552:A:G Identity +NM_001193421.2:c.502G>C NP_001180350.1:p.Asp168His NC_000020.11:53253968:G:C p.(Asp168His) NC_000020.11:53253968:G:C p.(Asp168His) NC_000020.11:53253968:G:C Identity +NM_001375567.1:c.2320T>G NP_001362496.1:p.Leu774Val NC_000009.12:20881872:T:G p.(Leu774Val) NC_000009.12:20881872:T:G p.(Leu774Val) NC_000009.12:20881872:T:G Identity +NM_013291.3:c.2923T>C NP_037423.2:p.Phe975Leu NC_000008.11:144396403:A:G p.(Phe975Leu) NC_000008.11:144396403:A:G p.(Phe975Leu) NC_000008.11:144396403:A:G Identity +NM_001159293.2:c.148C>A NP_001152765.1:p.Pro50Thr NC_000019.10:20552552:G:T p.(Pro50Thr) NC_000019.10:20552552:G:T p.(Pro50Thr) NC_000019.10:20552552:G:T Identity +NM_003335.3:c.1672C>G NP_003326.2:p.Pro558Ala NC_000003.12:49810144:G:C p.(Pro558Ala) NC_000003.12:49810144:G:C p.(Pro558Ala) NC_000003.12:49810144:G:C Identity +NM_002472.3:c.5636A>T NP_002463.2:p.Lys1879Ile NC_000017.11:10391909:T:A p.(Lys1879Ile) NC_000017.11:10391909:T:A p.(Lys1879Ile) NC_000017.11:10391909:T:A Identity +NM_001170753.2:c.727C>T NP_001164224.1:p.Arg243Trp NC_000011.10:61486562:C:T p.(Arg243Trp) NC_000011.10:61486562:C:T p.(Arg243Trp) NC_000011.10:61486562:C:T Identity +NM_002354.3:c.64G>T NP_002345.2:p.Ala22Ser NC_000002.12:47369568:G:T p.(Ala22Ser) NC_000002.12:47369568:G:T p.(Ala22Ser) NC_000002.12:47369568:G:T Identity +NM_001007257.3:c.695G>A NP_001007258.1:p.Gly232Asp NC_000001.11:13779092:G:A p.(Gly232Asp) NC_000001.11:13779092:G:A p.(Gly232Asp) NC_000001.11:13779092:G:A Identity +NM_001271933.2:c.4306A>G NP_001258862.1:p.Thr1436Ala NC_000011.10:117412105:A:G p.(Thr1436Ala) NC_000011.10:117412105:A:G p.(Thr1436Ala) NC_000011.10:117412105:A:G Identity +NM_144713.5:c.934G>C NP_653314.3:p.Val312Leu NC_000002.12:37952148:G:C p.(Val312Leu) NC_000002.12:37952148:G:C p.(Val312Leu) NC_000002.12:37952148:G:C Identity +NM_001206920.2:c.193T>C NP_001193849.1:p.Ser65Pro NC_000014.9:57594034:A:G p.(Ser65Pro) NC_000014.9:57594034:A:G p.(Ser65Pro) NC_000014.9:57594034:A:G Identity +NM_001030015.3:c.892C>T NP_001025186.1:p.Arg298Trp NC_000010.11:86659952:C:T p.(Arg298Trp) NC_000010.11:86659952:C:T p.(Arg298Trp) NC_000010.11:86659952:C:T Identity +NM_198493.3:c.367T>G NP_940895.1:p.Leu123Val NC_000001.11:173646974:A:C p.(Leu123Val) NC_000001.11:173646974:A:C p.(Leu123Val) NC_000001.11:173646974:A:C Identity +NM_001102594.3:c.749C>T NP_001096064.1:p.Pro250Leu NC_000007.14:76482987:C:T p.(Pro250Leu) NC_000007.14:76482987:C:T p.(Pro250Leu) NC_000007.14:76482987:C:T Identity +NM_001737.5:c.1392T>G NP_001728.1:p.Asp464Glu NC_000005.10:39306640:A:C p.(Asp464Glu) NC_000005.10:39306640:A:C p.(Asp464Glu) NC_000005.10:39306640:A:C Identity +NM_001410780.1:c.407C>T NP_001397709.1:p.Ser136Leu NC_000005.10:139871816:G:A p.(Ser136Leu) NC_000005.10:139871816:G:A p.(Ser136Leu) NC_000005.10:139871816:G:A Identity +NM_002976.4:c.838C>A NP_002967.2:p.His280Asn NC_000002.12:166465813:G:T p.(His280Asn) NC_000002.12:166465813:G:T p.(His280Asn) NC_000002.12:166465813:G:T Identity +NM_032040.5:c.1261G>C NP_114429.2:p.Ala421Pro NC_000019.10:46411549:C:G p.(Ala421Pro) NC_000019.10:46411549:C:G p.(Ala421Pro) NC_000019.10:46411549:C:G Identity +NM_001142286.2:c.2563C>T NP_001135758.1:p.Pro855Ser NC_000002.12:17695266:G:A p.(Pro855Ser) NC_000002.12:17695266:G:A p.(Pro855Ser) NC_000002.12:17695266:G:A Identity +NM_001286606.2:c.77C>T NP_001273535.1:p.Pro26Leu NC_000011.10:828683:C:T p.(Pro26Leu) NC_000011.10:828683:C:T p.(Pro26Leu) NC_000011.10:828683:C:T Identity +NM_001142885.2:c.692C>A NP_001136357.1:p.Thr231Asn NC_000015.10:51798263:C:A p.(Thr231Asn) NC_000015.10:51798263:C:A p.(Thr231Asn) NC_000015.10:51798263:C:A Identity +NM_017580.3:c.580A>G NP_060050.2:p.Ile194Val NC_000010.11:124943072:A:G p.(Ile194Val) NC_000010.11:124943072:A:G p.(Ile194Val) NC_000010.11:124943072:A:G Identity +NM_001287819.3:c.2462T>G NP_001274748.1:p.Met821Arg NC_000001.11:196305294:A:C p.(Met821Arg) NC_000001.11:196305294:A:C p.(Met821Arg) NC_000001.11:196305294:A:C Identity +NM_173814.6:c.2428G>A NP_776175.2:p.Val810Ile NC_000015.10:55638572:C:T p.(Val810Ile) NC_000015.10:55638572:C:T p.(Val810Ile) NC_000015.10:55638572:C:T Identity +NM_006368.5:c.159G>T NP_006359.3:p.Leu53Phe NC_000009.12:35733024:G:T p.(Leu53Phe) NC_000009.12:35733024:G:T p.(Leu53Phe) NC_000009.12:35733024:G:T Identity +NM_001111018.2:c.4346C>G NP_001104488.1:p.Ser1449Cys NC_000011.10:20054135:C:G p.(Ser1449Cys) NC_000011.10:20054135:C:G p.(Ser1449Cys) NC_000011.10:20054135:C:G Identity +NM_001288990.3:c.1858G>A NP_001275919.1:p.Glu620Lys NC_000016.10:67827538:G:A p.(Glu620Lys) NC_000016.10:67827538:G:A p.(Glu620Lys) NC_000016.10:67827538:G:A Identity +NM_030569.7:c.2129T>G NP_085046.5:p.Val710Gly NC_000010.11:7569687:A:C p.(Val710Gly) NC_000010.11:7569687:A:C p.(Val710Gly) NC_000010.11:7569687:A:C Identity +NM_001042581.2:c.19G>T NP_001036046.1:p.Ala7Ser NC_000015.10:75621032:C:A p.(Ala7Ser) NC_000015.10:75621032:C:A p.(Ala7Ser) NC_000015.10:75621032:C:A Identity +NM_015986.4:c.1043G>A NP_057070.3:p.Arg348Gln NC_000017.11:30785947:C:T p.(Arg348Gln) NC_000017.11:30785947:C:T p.(Arg348Gln) NC_000017.11:30785947:C:T Identity +NM_001252078.2:c.1922G>A NP_001239007.1:p.Gly641Glu NC_000012.12:62390940:G:A p.(Gly641Glu) NC_000012.12:62390940:G:A p.(Gly641Glu) NC_000012.12:62390940:G:A Identity +NM_000552.5:c.5993G>A NP_000543.3:p.Arg1998Lys NC_000012.12:5996071:C:T p.(Arg1998Lys) NC_000012.12:5996071:C:T p.(Arg1998Lys) NC_000012.12:5996071:C:T Identity +NM_001242385.2:c.1748G>A NP_001229314.1:p.Arg583Gln NC_000006.12:10764455:C:T p.(Arg583Gln) NC_000006.12:10764455:C:T p.(Arg583Gln) NC_000006.12:10764455:C:T Identity +NM_001393552.1:c.1516G>A NP_001380481.1:p.Asp506Asn NC_000019.10:4216648:G:A p.(Asp506Asn) NC_000019.10:4216648:G:A p.(Asp506Asn) NC_000019.10:4216648:G:A Identity +NM_002726.5:c.24C>G NP_002717.3:p.Asp8Glu NC_000006.12:105402867:G:C p.(Asp8Glu) NC_000006.12:105402867:G:C p.(Asp8Glu) NC_000006.12:105402867:G:C Identity +NM_182758.4:c.944A>G NP_877435.3:p.Gln315Arg NC_000015.10:53710866:T:C p.(Gln315Arg) NC_000015.10:53710866:T:C p.(Gln315Arg) NC_000015.10:53710866:T:C Identity +NM_001317214.3:c.685G>A NP_001304143.1:p.Val229Ile NC_000018.10:65822139:G:A p.(Val229Ile) NC_000018.10:65822139:G:A p.(Val229Ile) NC_000018.10:65822139:G:A Identity +NM_018429.3:c.722G>A NP_060899.2:p.Gly241Glu NC_000005.10:71466157:G:A p.(Gly241Glu) NC_000005.10:71466157:G:A p.(Gly241Glu) NC_000005.10:71466157:G:A Identity +NM_020639.3:c.778C>T NP_065690.2:p.Arg260Cys NC_000021.9:41746666:G:A p.(Arg260Cys) NC_000021.9:41746666:G:A p.(Arg260Cys) NC_000021.9:41746666:G:A Identity +NM_001346003.2:c.149C>G NP_001332932.1:p.Pro50Arg NC_000019.10:35741031:G:C p.(Pro50Arg) NC_000019.10:35741031:G:C p.(Pro50Arg) NC_000019.10:35741031:G:C Identity +NM_139055.4:c.334G>C NP_620686.1:p.Asp112His NC_000011.10:130449306:G:C p.(Asp112His) NC_000011.10:130449306:G:C p.(Asp112His) NC_000011.10:130449306:G:C Identity +NM_001042368.3:c.1633G>A NP_001035827.1:p.Glu545Lys NC_000009.12:133102893:C:T p.(Glu545Lys) NC_000009.12:133102893:C:T p.(Glu545Lys) NC_000009.12:133102893:C:T Identity +NM_001329996.2:c.286C>T NP_001316925.1:p.Arg96Cys NC_000007.14:29566614:C:T p.(Arg96Cys) NC_000007.14:29566614:C:T p.(Arg96Cys) NC_000007.14:29566614:C:T Identity +NM_001256486.2:c.8299G>T NP_001243415.1:p.Asp2767Tyr NC_000003.12:121691064:C:A p.(Asp2767Tyr) NC_000003.12:121691064:C:A p.(Asp2767Tyr) NC_000003.12:121691064:C:A Identity +NM_001135597.2:c.1150A>T NP_001129069.1:p.Asn384Tyr NC_000002.12:55344405:T:A p.(Asn384Tyr) NC_000002.12:55344405:T:A p.(Asn384Tyr) NC_000002.12:55344405:T:A Identity +NM_001099952.4:c.3465A>C NP_001093422.2:p.Lys1155Asn NC_000003.12:4683791:A:C p.(Lys1155Asn) NC_000003.12:4683791:A:C p.(Lys1155Asn) NC_000003.12:4683791:A:C Identity +NM_002204.4:c.389G>A NP_002195.1:p.Ser130Asn NC_000017.11:50064581:G:A p.(Ser130Asn) NC_000017.11:50064581:G:A p.(Ser130Asn) NC_000017.11:50064581:G:A Identity +NM_001287005.2:c.475G>A NP_001273934.1:p.Val159Met NC_000009.12:93079558:G:A p.(Val159Met) NC_000009.12:93079558:G:A p.(Val159Met) NC_000009.12:93079558:G:A Identity +NM_001004466.2:c.577G>A NP_001004466.1:p.Val193Met NC_000019.10:15794624:G:A p.(Val193Met) NC_000019.10:15794624:G:A p.(Val193Met) NC_000019.10:15794624:G:A Identity +NM_001242792.2:c.1306G>A NP_001229721.1:p.Glu436Lys NC_000006.12:83601288:C:T p.(Glu436Lys) NC_000006.12:83601288:C:T p.(Glu436Lys) NC_000006.12:83601288:C:T Identity +NM_001206480.2:c.65T>C NP_001193409.1:p.Met22Thr NC_000007.14:37342625:A:G p.(Met22Thr) NC_000007.14:37342625:A:G p.(Met22Thr) NC_000007.14:37342625:A:G Identity +NM_001010849.1:c.1102A>G NP_001010849.1:p.Ile368Val NC_000014.9:23276053:T:C ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found +NM_001282873.2:c.5678G>A NP_001269802.1:p.Arg1893Gln NC_000008.11:102285144:C:T p.(Arg1893Gln) NC_000008.11:102285144:C:T p.(Arg1893Gln) NC_000008.11:102285144:C:T Identity +NM_001351277.2:c.2252G>A NP_001338206.1:p.Arg751Gln NC_000010.11:812995:C:T p.(Arg751Gln) NC_000010.11:812995:C:T p.(Arg751Gln) NC_000010.11:812995:C:T Identity +NM_152701.5:c.2539A>G NP_689914.3:p.Arg847Gly NC_000007.14:48272204:A:G p.(Arg847Gly) NC_000007.14:48272204:A:G p.(Arg847Gly) NC_000007.14:48272204:A:G Identity +NM_006597.6:c.1874T>A NP_006588.1:p.Phe625Tyr NC_000011.10:123057800:A:T p.(Phe625Tyr) NC_000011.10:123057800:A:T p.(Phe625Tyr) NC_000011.10:123057800:A:T Identity +NM_001353135.1:c.136A>G NP_001340064.1:p.Met46Val NC_000017.11:6758191:A:G p.(Met46Val) NC_000017.11:6758191:A:G p.(Met46Val) NC_000017.11:6758191:A:G Identity +NM_017761.4:c.119A>G NP_060231.1:p.His40Arg NC_000001.11:23961575:A:G p.(His40Arg) NC_000001.11:23961575:A:G p.(His40Arg) NC_000001.11:23961575:A:G Identity +NM_030821.5:c.226C>T NP_110448.2:p.Arg76Cys NC_000004.12:109718741:G:A p.(Arg76Cys) NC_000004.12:109718741:G:A p.(Arg76Cys) NC_000004.12:109718741:G:A Identity +NM_001018071.4:c.3601C>A NP_001018081.4:p.Pro1201Thr NC_000010.11:48163607:G:T p.(Pro1201Thr) NC_000010.11:48163607:G:T p.(Pro1201Thr) NC_000010.11:48163607:G:T Identity +NM_021965.4:c.799C>G NP_068800.2:p.Pro267Ala NC_000009.12:68391634:C:G p.(Pro267Ala) NC_000009.12:68391634:C:G p.(Pro267Ala) NC_000009.12:68391634:C:G Identity +NM_001159293.2:c.50A>G NP_001152765.1:p.Glu17Gly NC_000019.10:20553788:T:C p.(Glu17Gly) NC_000019.10:20553788:T:C p.(Glu17Gly) NC_000019.10:20553788:T:C Identity +NM_001286164.2:c.1799C>T NP_001273093.1:p.Pro600Leu NC_000001.11:176957765:G:A p.(Pro600Leu) NC_000001.11:176957765:G:A p.(Pro600Leu) NC_000001.11:176957765:G:A Identity +NM_001012759.3:c.799A>G NP_001012777.1:p.Ser267Gly NC_000016.10:88713372:A:G p.(Ser267Gly) NC_000016.10:88713372:A:G p.(Ser267Gly) NC_000016.10:88713372:A:G Identity +NM_001394201.1:c.3310G>T NP_001381130.1:p.Gly1104Cys NC_000009.12:136378516:C:A p.(Gly1104Cys) NC_000009.12:136378516:C:A p.(Gly1104Cys) NC_000009.12:136378516:C:A Identity +NM_001363531.2:c.628G>A NP_001350460.1:p.Glu210Lys NC_000010.11:122983390:G:A p.(Glu210Lys) NC_000010.11:122983390:G:A p.(Glu210Lys) NC_000010.11:122983390:G:A Identity +NM_001164746.2:c.372A>T NP_001158218.1:p.Glu124Asp NC_000012.12:26064765:A:T p.(Glu124Asp) NC_000012.12:26064765:A:T p.(Glu124Asp) NC_000012.12:26064765:A:T Identity +NM_018912.3:c.968A>G NP_061735.1:p.Asp323Gly NC_000005.10:141331651:A:G p.(Asp323Gly) NC_000005.10:141331651:A:G p.(Asp323Gly) NC_000005.10:141331651:A:G Identity +NM_001004488.2:c.451G>A NP_001004488.1:p.Gly151Arg NC_000007.14:144074669:G:A p.(Gly151Arg) NC_000007.14:144074669:G:A p.(Gly151Arg) NC_000007.14:144074669:G:A Identity +NM_018557.3:c.4684C>G NP_061027.2:p.Leu1562Val NC_000002.12:140851678:G:C p.(Leu1562Val) NC_000002.12:140851678:G:C p.(Leu1562Val) NC_000002.12:140851678:G:C Identity +NM_001291812.2:c.193C>A NP_001278741.1:p.Pro65Thr NC_000004.12:80286486:C:A p.(Pro65Thr) NC_000004.12:80286486:C:A p.(Pro65Thr) NC_000004.12:80286486:C:A Identity +NM_017617.5:c.7627A>G NP_060087.3:p.Met2543Val NC_000009.12:136496111:T:C p.(Met2543Val) NC_000009.12:136496111:T:C p.(Met2543Val) NC_000009.12:136496111:T:C Identity +NM_004212.4:c.1097C>T NP_004203.2:p.Ser366Phe NC_000015.10:45267693:C:T p.(Ser366Phe) NC_000015.10:45267693:C:T p.(Ser366Phe) NC_000015.10:45267693:C:T Identity +NM_001291446.2:c.1618C>T NP_001278375.1:p.Arg540Cys NC_000014.9:21523704:G:A p.(Arg540Cys) NC_000014.9:21523704:G:A p.(Arg540Cys) NC_000014.9:21523704:G:A Identity +NM_001289403.2:c.1387G>A NP_001276332.1:p.Ala463Thr NC_000010.11:97466148:C:T p.(Ala463Thr) NC_000010.11:97466148:C:T p.(Ala463Thr) NC_000010.11:97466148:C:T Identity +NM_001009998.4:c.1009G>A NP_001009998.1:p.Asp337Asn NC_000019.10:18433763:G:A p.(Asp337Asn) NC_000019.10:18433763:G:A p.(Asp337Asn) NC_000019.10:18433763:G:A Identity +NM_001145024.1:c.47T>C NP_001138496.1:p.Leu16Pro NC_000011.10:112260542:A:G p.(Leu16Pro) NC_000011.10:112260542:A:G p.(Leu16Pro) NC_000011.10:112260542:A:G Identity +NM_001242589.3:c.383G>A NP_001229518.1:p.Arg128His NC_000006.12:41282417:C:T p.(Arg128His) NC_000006.12:41282417:C:T p.(Arg128His) NC_000006.12:41282417:C:T Identity +NM_001858.6:c.2229G>C NP_001849.2:p.Glu743Asp NC_000006.12:70156359:G:C p.(Glu743Asp) NC_000006.12:70156359:G:C p.(Glu743Asp) NC_000006.12:70156359:G:C Identity +NM_198525.3:c.35A>G NP_940927.2:p.Glu12Gly NC_000015.10:89652895:T:C p.(Glu12Gly) NC_000015.10:89652895:T:C p.(Glu12Gly) NC_000015.10:89652895:T:C Identity +NM_020759.3:c.9437T>C NP_065810.2:p.Leu3146Ser NC_000015.10:42691014:T:C p.(Leu3146Ser) NC_000015.10:42691014:T:C p.(Leu3146Ser) NC_000015.10:42691014:T:C Identity +NM_001330492.2:c.1033T>G NP_001317421.1:p.Cys345Gly NC_000012.12:122207358:T:G p.(Cys345Gly) NC_000012.12:122207358:T:G p.(Cys345Gly) NC_000012.12:122207358:T:G Identity +NM_002864.3:c.1469G>T NP_002855.2:p.Ser490Ile NC_000012.12:9192524:C:A p.(Ser490Ile) NC_000012.12:9192524:C:A p.(Ser490Ile) NC_000012.12:9192524:C:A Identity +NM_153225.4:c.20C>T NP_694957.3:p.Ala7Val NC_000008.11:73093047:G:A p.(Ala7Val) NC_000008.11:73093047:G:A p.(Ala7Val) NC_000008.11:73093047:G:A Identity +NM_001198938.2:c.1351A>G NP_001185867.1:p.Asn451Asp NC_000018.10:34858363:A:G p.(Asn451Asp) NC_000018.10:34858363:A:G p.(Asn451Asp) NC_000018.10:34858363:A:G Identity +NM_173628.4:c.8980G>A NP_775899.3:p.Val2994Met NC_000017.11:78463037:C:T p.(Val2994Met) NC_000017.11:78463037:C:T p.(Val2994Met) NC_000017.11:78463037:C:T Identity +NM_001291978.2:c.2401A>G NP_001278907.1:p.Lys801Glu NC_000004.12:2939260:T:C p.(Lys801Glu) NC_000004.12:2939260:T:C p.(Lys801Glu) NC_000004.12:2939260:T:C Identity +NM_001122834.4:c.1325C>A NP_001116306.1:p.Ser442Tyr NC_000001.11:210623604:C:A p.(Ser442Tyr) NC_000001.11:210623604:C:A p.(Ser442Tyr) NC_000001.11:210623604:C:A Identity +NM_001135564.1:c.375T>G NP_001129036.1:p.Asp125Glu NC_000006.12:122413568:T:G p.(Asp125Glu) NC_000006.12:122413568:T:G p.(Asp125Glu) NC_000006.12:122413568:T:G Identity +NM_024423.4:c.2504G>C NP_077741.2:p.Arg835Thr NC_000018.10:30994485:C:G p.(Arg835Thr) NC_000018.10:30994485:C:G p.(Arg835Thr) NC_000018.10:30994485:C:G Identity +NM_018727.5:c.1400A>C NP_061197.4:p.Glu467Ala NC_000017.11:3583413:T:G p.(Glu467Ala) NC_000017.11:3583413:T:G p.(Glu467Ala) NC_000017.11:3583413:T:G Identity +NM_001369769.2:c.2283C>A NP_001356698.1:p.Cys761Ter NC_000008.11:144473295:C:A p.(Cys761Ter) NC_000008.11:144473295:C:A p.(Cys761Ter) NC_000008.11:144473295:C:A Identity +NM_015714.4:c.16G>A NP_056529.1:p.Glu6Lys NC_000001.11:209675699:G:A p.(Glu6Lys) NC_000001.11:209675699:G:A p.(Glu6Lys) NC_000001.11:209675699:G:A Identity +NM_022772.4:c.707G>A NP_073609.2:p.Arg236His NC_000011.10:721290:G:A p.(Arg236His) NC_000011.10:721290:G:A p.(Arg236His) NC_000011.10:721290:G:A Identity +NM_001320755.2:c.505C>T NP_001307684.1:p.Pro169Ser NC_000017.11:28675128:C:T p.(Pro169Ser) NC_000017.11:28675128:C:T p.(Pro169Ser) NC_000017.11:28675128:C:T Identity +NM_001172420.2:c.1261T>C NP_001165891.1:p.Phe421Leu NC_000006.12:52479075:T:C p.(Phe421Leu) NC_000006.12:52479075:T:C p.(Phe421Leu) NC_000006.12:52479075:T:C Identity +NM_001330429.2:c.707A>G NP_001317358.1:p.Lys236Arg NC_000019.10:4317187:A:G p.(Lys236Arg) NC_000019.10:4317187:A:G p.(Lys236Arg) NC_000019.10:4317187:A:G Identity +NM_001281771.3:c.2930C>T NP_001268700.1:p.Thr977Met NC_000020.11:47221344:G:A p.(Thr977Met) NC_000020.11:47221344:G:A p.(Thr977Met) NC_000020.11:47221344:G:A Identity +NM_001103.4:c.966C>G NP_001094.1:p.Asp322Glu NC_000001.11:236739390:C:G p.(Asp322Glu) NC_000001.11:236739390:C:G p.(Asp322Glu) NC_000001.11:236739390:C:G Identity +NM_001171937.2:c.224G>T NP_001165408.1:p.Gly75Val NC_000019.10:49811685:C:A p.(Gly75Val) NC_000019.10:49811685:C:A p.(Gly75Val) NC_000019.10:49811685:C:A Identity +NM_152548.3:c.170A>G NP_689761.2:p.Glu57Gly NC_000005.10:95392838:A:G p.(Glu57Gly) NC_000005.10:95392838:A:G p.(Glu57Gly) NC_000005.10:95392838:A:G Identity +NM_001318890.3:c.872T>C NP_001305819.1:p.Ile291Thr NC_000016.10:20669866:A:G p.(Ile291Thr) NC_000016.10:20669866:A:G p.(Ile291Thr) NC_000016.10:20669866:A:G Identity +NM_032160.3:c.3050A>G NP_115536.2:p.Gln1017Arg NC_000018.10:67511558:T:C p.(Gln1017Arg) NC_000018.10:67511558:T:C p.(Gln1017Arg) NC_000018.10:67511558:T:C Identity +NM_001366010.2:c.3304G>A NP_001352939.1:p.Val1102Met NC_000001.11:227033398:C:T p.(Val1102Met) NC_000001.11:227033398:C:T p.(Val1102Met) NC_000001.11:227033398:C:T Identity +NM_001024947.4:c.59A>G NP_001020118.1:p.Asp20Gly NC_000005.10:144169896:T:C p.(Asp20Gly) NC_000005.10:144169896:T:C p.(Asp20Gly) NC_000005.10:144169896:T:C Identity +NM_001105538.2:c.2774A>G NP_001099008.1:p.Asn925Ser NC_000017.11:4543030:T:C p.(Asn925Ser) NC_000017.11:4543030:T:C p.(Asn925Ser) NC_000017.11:4543030:T:C Identity +NM_001305141.3:c.572C>G NP_001292070.1:p.Ser191Cys NC_000016.10:4463807:G:C p.(Ser191Cys) NC_000016.10:4463807:G:C p.(Ser191Cys) NC_000016.10:4463807:G:C Identity +NM_004055.5:c.1166A>G NP_004046.2:p.Gln389Arg NC_000011.10:77118350:A:G p.(Gln389Arg) NC_000011.10:77118350:A:G p.(Gln389Arg) NC_000011.10:77118350:A:G Identity +NM_001100912.2:c.793T>C NP_001094382.1:p.Tyr265His NC_000010.11:13481051:A:G p.(Tyr265His) NC_000010.11:13481051:A:G p.(Tyr265His) NC_000010.11:13481051:A:G Identity +NM_018149.7:c.2483G>A NP_060619.4:p.Arg828Lys NC_000017.11:59213305:G:A p.(Arg828Lys) NC_000017.11:59213305:G:A p.(Arg828Lys) NC_000017.11:59213305:G:A Identity +NM_001382637.1:c.1744T>G NP_001369566.1:p.Ser582Ala NC_000015.10:31484351:A:C p.(Ser582Ala) NC_000015.10:31484351:A:C p.(Ser582Ala) NC_000015.10:31484351:A:C Identity +NM_176814.5:c.478A>G NP_789784.2:p.Ser160Gly NC_000007.14:127374857:T:C p.(Ser160Gly) NC_000007.14:127374857:T:C p.(Ser160Gly) NC_000007.14:127374857:T:C Identity +NM_002687.4:c.2030G>A NP_002678.3:p.Gly677Glu NC_000014.9:39181738:G:A p.(Gly677Glu) NC_000014.9:39181738:G:A p.(Gly677Glu) NC_000014.9:39181738:G:A Identity +NM_001287803.2:c.234G>C NP_001274732.1:p.Trp78Cys NC_000010.11:97451908:G:C p.(Trp78Cys) NC_000010.11:97451908:G:C p.(Trp78Cys) NC_000010.11:97451908:G:C Identity +NM_001366299.1:c.1139A>G NP_001353228.1:p.Glu380Gly NC_000019.10:6417029:T:C p.(Glu380Gly) NC_000019.10:6417029:T:C p.(Glu380Gly) NC_000019.10:6417029:T:C Identity +NM_002521.3:c.25C>T NP_002512.1:p.Arg9Trp NC_000001.11:11858808:G:A p.(Arg9Trp) NC_000001.11:11858808:G:A p.(Arg9Trp) NC_000001.11:11858808:G:A Identity +NM_153256.4:c.437C>T NP_694988.3:p.Thr146Ile NC_000010.11:11869534:C:T p.(Thr146Ile) NC_000010.11:11869534:C:T p.(Thr146Ile) NC_000010.11:11869534:C:T Identity +NM_015080.4:c.4777C>A NP_055895.1:p.Pro1593Thr NC_000011.10:64607557:G:T p.(Pro1593Thr) NC_000011.10:64607557:G:T p.(Pro1593Thr) NC_000011.10:64607557:G:T Identity +NM_015397.4:c.193C>G NP_056212.1:p.Arg65Gly NC_000009.12:34125162:G:C p.(Arg65Gly) NC_000009.12:34125162:G:C p.(Arg65Gly) NC_000009.12:34125162:G:C Identity +NM_001143939.3:c.157C>A NP_001137411.1:p.Arg53Ser NC_000019.10:52434095:C:A p.(Arg53Ser) NC_000019.10:52434095:C:A p.(Arg53Ser) NC_000019.10:52434095:C:A Identity +NM_001040653.4:c.1264G>A NP_001035743.1:p.Val422Met NC_000003.12:126470900:C:T p.(Val422Met) NC_000003.12:126470900:C:T p.(Val422Met) NC_000003.12:126470900:C:T Identity +NM_006593.4:c.739A>G NP_006584.1:p.Thr247Ala NC_000002.12:161417721:A:G p.(Thr247Ala) NC_000002.12:161417721:A:G p.(Thr247Ala) NC_000002.12:161417721:A:G Identity +NM_001101654.2:c.689A>G NP_001095124.1:p.Glu230Gly NC_000018.10:50285224:T:C p.(Glu230Gly) NC_000018.10:50285224:T:C p.(Glu230Gly) NC_000018.10:50285224:T:C Identity +NM_031282.3:c.1012C>T NP_112572.1:p.Arg338Cys NC_000001.11:157586290:G:A p.(Arg338Cys) NC_000001.11:157586290:G:A p.(Arg338Cys) NC_000001.11:157586290:G:A Identity +NM_001080479.3:c.3703G>A NP_001073948.2:p.Glu1235Lys NC_000005.10:73894436:G:A p.(Glu1235Lys) NC_000005.10:73894436:G:A p.(Glu1235Lys) NC_000005.10:73894436:G:A Identity +NM_005975.4:c.1084G>A NP_005966.1:p.Gly362Ser NC_000020.11:63530161:C:T p.(Gly362Ser) NC_000020.11:63530161:C:T p.(Gly362Ser) NC_000020.11:63530161:C:T Identity +NM_024837.4:c.1112C>A NP_079113.2:p.Pro371His NC_000015.10:49972712:G:T p.(Pro371His) NC_000015.10:49972712:G:T p.(Pro371His) NC_000015.10:49972712:G:T Identity +NM_001024858.4:c.2831C>T NP_001020029.1:p.Ser944Leu NC_000014.9:64787133:G:A p.(Ser944Leu) NC_000014.9:64787133:G:A p.(Ser944Leu) NC_000014.9:64787133:G:A Identity +NM_001317926.2:c.758T>G NP_001304855.1:p.Val253Gly NC_000009.12:128707327:T:G p.(Val253Gly) NC_000009.12:128707327:T:G p.(Val253Gly) NC_000009.12:128707327:T:G Identity +NM_203406.2:c.418G>A NP_981951.2:p.Val140Ile NC_000005.10:90473874:C:T p.(Val140Ile) NC_000005.10:90473874:C:T p.(Val140Ile) NC_000005.10:90473874:C:T Identity +NM_001005235.1:c.442G>T NP_001005235.1:p.Gly148Cys NC_000009.12:122724430:G:T p.(Gly148Cys) NC_000009.12:122724430:G:T p.(Gly148Cys) NC_000009.12:122724430:G:T Identity +NM_001193267.2:c.848T>C NP_001180196.1:p.Leu283Pro NC_000006.12:13611833:T:C p.(Leu283Pro) NC_000006.12:13611833:T:C p.(Leu283Pro) NC_000006.12:13611833:T:C Identity +NM_014753.4:c.2702T>C NP_055568.3:p.Phe901Ser NC_000010.11:42820356:T:C p.(Phe901Ser) NC_000010.11:42820356:T:C p.(Phe901Ser) NC_000010.11:42820356:T:C Identity +NM_031454.2:c.1636G>C NP_113642.1:p.Glu546Gln NC_000022.11:50216823:G:C p.(Glu546Gln) NC_000022.11:50216823:G:C p.? NC_000022.11:50216823:G:C Identity +NM_001346765.2:c.5722G>A NP_001333694.1:p.Glu1908Lys NC_000017.11:29086982:C:T p.(Glu1908Lys) NC_000017.11:29086982:C:T p.(Glu1908Lys) NC_000017.11:29086982:C:T Identity +NM_001378068.1:c.1180G>A NP_001364997.1:p.Glu394Lys NC_000002.12:189692394:G:A p.(Glu394Lys) NC_000002.12:189692394:G:A p.(Glu394Lys) NC_000002.12:189692394:G:A Identity +NM_152744.4:c.6530A>G NP_689957.3:p.Glu2177Gly NC_000007.14:4265271:A:G p.(Glu2177Gly) NC_000007.14:4265271:A:G p.(Glu2177Gly) NC_000007.14:4265271:A:G Identity +NM_001376495.1:c.190C>T NP_001363424.1:p.Arg64Trp NC_000011.10:8731099:G:A p.(Arg64Trp) NC_000011.10:8731099:G:A p.(Arg64Trp) NC_000011.10:8731099:G:A Identity +NM_005777.3:c.1313G>A NP_005768.1:p.Arg438Gln NC_000003.12:49968737:G:A p.(Arg438Gln) NC_000003.12:49968737:G:A p.(Arg438Gln) NC_000003.12:49968737:G:A Identity +NM_001387221.1:c.2695C>T NP_001374150.1:p.Arg899Trp NC_000016.10:23069289:G:A p.(Arg899Trp) NC_000016.10:23069289:G:A p.(Arg899Trp) NC_000016.10:23069289:G:A Identity +NM_025074.7:c.8182G>T NP_079350.5:p.Gly2728Cys NC_000004.12:78479456:G:T p.(Gly2728Cys) NC_000004.12:78479456:G:T p.(Gly2728Cys) NC_000004.12:78479456:G:T Identity +NM_001303.4:c.713C>T NP_001294.2:p.Ser238Phe NC_000017.11:14192005:C:T p.(Ser238Phe) NC_000017.11:14192005:C:T p.(Ser238Phe) NC_000017.11:14192005:C:T Identity +NM_001099436.4:c.1385C>T NP_001092906.3:p.Ser462Leu NC_000015.10:74837385:G:A p.(Ser462Leu) NC_000015.10:74837385:G:A p.(Ser462Leu) NC_000015.10:74837385:G:A Identity +NM_001014839.2:c.644A>G NP_001014839.1:p.Glu215Gly NC_000001.11:35560794:A:G p.(Glu215Gly) NC_000001.11:35560794:A:G p.(Glu215Gly) NC_000001.11:35560794:A:G Identity +NM_053050.5:c.229C>T NP_444278.1:p.Arg77Cys NC_000002.12:74472228:G:A p.(Arg77Cys) NC_000002.12:74472228:G:A p.(Arg77Cys) NC_000002.12:74472228:G:A Identity +NM_001346083.2:c.1483G>A NP_001333012.1:p.Gly495Ser NC_000001.11:205064713:G:A p.(Gly495Ser) NC_000001.11:205064713:G:A p.(Gly495Ser) NC_000001.11:205064713:G:A Identity +NM_001010972.2:c.778C>T NP_001010972.1:p.Pro260Ser NC_000007.14:143383076:C:T p.(Pro260Ser) NC_000007.14:143383076:C:T p.(Pro260Ser) NC_000007.14:143383076:C:T Identity +NM_001286732.2:c.415A>G NP_001273661.1:p.Asn139Asp NC_000013.11:113350898:T:C p.(Asn139Asp) NC_000013.11:113350898:T:C p.(Asn139Asp) NC_000013.11:113350898:T:C Identity +NM_016521.3:c.74G>T NP_057605.3:p.Arg25Leu NC_000023.11:133218185:C:A p.(Arg25Leu) NC_000023.11:133218185:C:A p.(Arg25Leu) NC_000023.11:133218185:C:A Identity +NM_030974.4:c.550G>A NP_112236.3:p.Ala184Thr NC_000008.11:144099811:C:T p.(Ala184Thr) NC_000008.11:144099811:C:T p.(Ala184Thr) NC_000008.11:144099811:C:T Identity +NM_001136493.3:c.898C>A NP_001129965.1:p.Leu300Met NC_000001.11:39966863:C:A p.(Leu300Met) NC_000001.11:39966863:C:A p.(Leu300Met) NC_000001.11:39966863:C:A Identity +NM_152540.4:c.694G>C NP_689753.2:p.Val232Leu NC_000004.12:53365247:C:G p.(Val232Leu) NC_000004.12:53365247:C:G p.(Val232Leu) NC_000004.12:53365247:C:G Identity +NM_015066.2:c.965C>G NP_055881.1:p.Thr322Ser NC_000008.11:27288066:G:C ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_015066.2 not found +NM_138771.4:c.356G>A NP_620126.2:p.Gly119Asp NC_000007.14:23643047:G:A p.(Gly119Asp) NC_000007.14:23643047:G:A p.(Gly119Asp) NC_000007.14:23643047:G:A Identity +NM_002015.4:c.268G>C NP_002006.2:p.Val90Leu NC_000013.11:40665944:C:G p.(Val90Leu) NC_000013.11:40665944:C:G p.(Val90Leu) NC_000013.11:40665944:C:G Identity +NM_173567.5:c.625G>A NP_775838.3:p.Ala209Thr NC_000001.11:92050336:G:A p.(Ala209Thr) NC_000001.11:92050336:G:A p.(Ala209Thr) NC_000001.11:92050336:G:A Identity +NM_001318786.3:c.428A>G NP_001305715.1:p.Lys143Arg NC_000016.10:85806791:A:G p.(Lys143Arg) NC_000016.10:85806791:A:G p.(Lys143Arg) NC_000016.10:85806791:A:G Identity +NM_001302959.2:c.728T>C NP_001289888.1:p.Val243Ala NC_000011.10:67490904:T:C p.(Val243Ala) NC_000011.10:67490904:T:C p.(Val243Ala) NC_000011.10:67490904:T:C Identity +NM_001330360.2:c.2257A>G NP_001317289.1:p.Lys753Glu NC_000023.11:24741414:A:G p.(Lys753Glu) NC_000023.11:24741414:A:G p.(Lys753Glu) NC_000023.11:24741414:A:G Identity +NM_001281730.2:c.304A>G NP_001268659.1:p.Asn102Asp NC_000020.11:23493029:A:G p.(Asn102Asp) NC_000020.11:23493029:A:G p.(Asn102Asp) NC_000020.11:23493029:A:G Identity +NM_001185075.2:c.1013T>C NP_001172004.1:p.Leu338Pro NC_000023.11:147937487:T:C p.(Leu338Pro) NC_000023.11:147937487:T:C p.(Leu338Pro) NC_000023.11:147937487:T:C Identity +NM_001291088.2:c.5785C>G NP_001278017.1:p.Gln1929Glu NC_000019.10:37887885:G:C p.(Gln1929Glu) NC_000019.10:37887885:G:C p.(Gln1929Glu) NC_000019.10:37887885:G:C Identity +NM_001195129.2:c.456T>G NP_001182058.1:p.Asn152Lys NC_000002.12:232522523:T:G p.(Asn152Lys) NC_000002.12:232522523:T:G p.(Asn152Lys) NC_000002.12:232522523:T:G Identity +NM_012248.4:c.1057G>A NP_036380.2:p.Val353Ile NC_000016.10:30444670:C:T p.(Val353Ile) NC_000016.10:30444670:C:T p.? NC_000016.10:30444670:C:T Identity +NM_000908.4:c.743T>C NP_000899.1:p.Val248Ala NC_000005.10:32712518:T:C p.(Val248Ala) NC_000005.10:32712518:T:C p.(Val248Ala) NC_000005.10:32712518:T:C Identity +NM_001244713.1:c.50C>G NP_001231642.1:p.Ala17Gly NC_000009.12:107300186:C:G p.(Ala17Gly) NC_000009.12:107300186:C:G p.(Ala17Gly) NC_000009.12:107300186:C:G Identity +NM_001288629.2:c.1567T>C NP_001275558.1:p.Tyr523His NC_000006.12:93269542:A:G p.(Tyr523His) NC_000006.12:93269542:A:G p.(Tyr523His) NC_000006.12:93269542:A:G Identity +NM_001037126.2:c.860C>T NP_001032203.1:p.Ala287Val NC_000007.14:133356425:C:T p.(Ala287Val) NC_000007.14:133356425:C:T p.(Ala287Val) NC_000007.14:133356425:C:T Identity +NM_001025108.2:c.739T>A NP_001020279.1:p.Ser247Thr NC_000002.12:100006840:A:T p.(Ser247Thr) NC_000002.12:100006840:A:T p.(Ser247Thr) NC_000002.12:100006840:A:T Identity +NM_001032367.2:c.1531C>T NP_001027539.1:p.Arg511Trp NC_000015.10:40856963:C:T p.(Arg511Trp) NC_000015.10:40856963:C:T p.(Arg511Trp) NC_000015.10:40856963:C:T Identity +NM_001126335.2:c.1267T>C NP_001119807.1:p.Phe423Leu NC_000019.10:32833280:A:G p.(Phe423Leu) NC_000019.10:32833280:A:G p.(Phe423Leu) NC_000019.10:32833280:A:G Identity +NM_178857.6:c.876C>A NP_849188.4:p.His292Gln NC_000008.11:10613221:G:T p.(His292Gln) NC_000008.11:10613221:G:T p.(His292Gln) NC_000008.11:10613221:G:T Identity +NM_173076.3:c.482T>C NP_775099.2:p.Leu161Pro NC_000002.12:215052511:A:G p.(Leu161Pro) NC_000002.12:215052511:A:G p.(Leu161Pro) NC_000002.12:215052511:A:G Identity +NM_001366652.1:c.2386A>G NP_001353581.1:p.Ile796Val NC_000005.10:160620376:T:C p.(Ile796Val) NC_000005.10:160620376:T:C p.(Ile796Val) NC_000005.10:160620376:T:C Identity +NM_001355547.1:c.56C>T NP_001342476.1:p.Ser19Leu NC_000009.12:15571637:C:T p.(Ser19Leu) NC_000009.12:15571637:C:T p.(Ser19Leu) NC_000009.12:15571637:C:T Identity +NM_012166.3:c.2254A>T NP_036298.2:p.Ile752Phe NC_000009.12:37518384:T:A p.(Ile752Phe) NC_000009.12:37518384:T:A p.(Ile752Phe) NC_000009.12:37518384:T:A Identity +NM_001367868.2:c.3932A>C NP_001354797.1:p.Glu1311Ala NC_000019.10:4504642:T:G p.(Glu1311Ala) NC_000019.10:4504642:T:G p.(Glu1311Ala) NC_000019.10:4504642:T:G Identity +NM_001330585.2:c.2254T>G NP_001317514.1:p.Phe752Val NC_000001.11:52354924:A:C p.(Phe752Val) NC_000001.11:52354924:A:C p.(Phe752Val) NC_000001.11:52354924:A:C Identity +NM_001331097.1:c.1133A>G NP_001318026.1:p.His378Arg NC_000019.10:48286756:A:G p.(His378Arg) NC_000019.10:48286756:A:G p.(His378Arg) NC_000019.10:48286756:A:G Identity +NM_001286769.2:c.814G>A NP_001273698.1:p.Glu272Lys NC_000008.11:144774071:C:T p.(Glu272Lys) NC_000008.11:144774071:C:T p.(Glu272Lys) NC_000008.11:144774071:C:T Identity +NM_175907.6:c.274C>G NP_787103.1:p.Pro92Ala NC_000018.10:75202275:G:C p.(Pro92Ala) NC_000018.10:75202275:G:C p.(Pro92Ala) NC_000018.10:75202275:G:C Identity +NM_001362843.2:c.6489G>A NP_001349772.1:p.Met2163Ile NC_000022.11:41178277:G:A p.(Met2163Ile) NC_000022.11:41178277:G:A p.(Met2163Ile) NC_000022.11:41178277:G:A Identity +NM_001278503.2:c.448A>G NP_001265432.1:p.Met150Val NC_000011.10:125604186:A:G p.(Met150Val) NC_000011.10:125604186:A:G p.(Met150Val) NC_000011.10:125604186:A:G Identity +NM_005251.3:c.46G>C NP_005242.1:p.Val16Leu NC_000016.10:86567380:G:C p.(Val16Leu) NC_000016.10:86567380:G:C p.(Val16Leu) NC_000016.10:86567380:G:C Identity +NM_152701.5:c.10702G>A NP_689914.3:p.Val3568Ile NC_000007.14:48367806:G:A p.(Val3568Ile) NC_000007.14:48367806:G:A p.(Val3568Ile) NC_000007.14:48367806:G:A Identity +NM_015032.4:c.4292A>G NP_055847.1:p.Glu1431Gly NC_000013.11:32773307:A:G p.(Glu1431Gly) NC_000013.11:32773307:A:G p.(Glu1431Gly) NC_000013.11:32773307:A:G Identity +NM_001699.6:c.461C>A NP_001690.2:p.Thr154Asn NC_000019.10:41221930:C:A p.(Thr154Asn) NC_000019.10:41221930:C:A p.(Thr154Asn) NC_000019.10:41221930:C:A Identity +NM_181840.1:c.716C>A NP_862823.1:p.Thr239Lys NC_000010.11:117209859:C:A p.(Thr239Lys) NC_000010.11:117209859:C:A p.(Thr239Lys) NC_000010.11:117209859:C:A Identity +NM_003970.4:c.2090A>C NP_003961.3:p.Gln697Pro NC_000008.11:2094055:A:C p.(Gln697Pro) NC_000008.11:2094055:A:C p.(Gln697Pro) NC_000008.11:2094055:A:C Identity +NM_007113.4:c.5269C>T NP_009044.2:p.Pro1757Ser NC_000001.11:152107947:G:A p.(Pro1757Ser) NC_000001.11:152107947:G:A p.(Pro1757Ser) NC_000001.11:152107947:G:A Identity +NM_001004342.5:c.1006G>C NP_001004342.3:p.Glu336Gln NC_000001.11:231163974:G:C p.(Glu336Gln) NC_000001.11:231163974:G:C p.(Glu336Gln) NC_000001.11:231163974:G:C Identity +NM_001205280.2:c.115G>A NP_001192209.1:p.Ala39Thr NC_000019.10:44613759:G:A p.(Ala39Thr) NC_000019.10:44613759:G:A p.(Ala39Thr) NC_000019.10:44613759:G:A Identity +NM_006910.5:c.1288C>T NP_008841.2:p.Arg430Trp NC_000016.10:24562159:C:T p.(Arg430Trp) NC_000016.10:24562159:C:T p.(Arg430Trp) NC_000016.10:24562159:C:T Identity +NM_002216.3:c.226A>G NP_002207.2:p.Lys76Glu NC_000010.11:7709054:A:G p.(Lys76Glu) NC_000010.11:7709054:A:G p.(Lys76Glu) NC_000010.11:7709054:A:G Identity +NM_001379180.1:c.965A>C NP_001366109.1:p.Tyr322Ser NC_000014.9:76491560:A:C p.(Tyr322Ser) NC_000014.9:76491560:A:C p.(Tyr322Ser) NC_000014.9:76491560:A:C Identity +NM_001145853.1:c.1399C>A NP_001139325.1:p.Leu467Met NC_000004.12:6301193:C:A p.(Leu467Met) NC_000004.12:6301193:C:A p.(Leu467Met) NC_000004.12:6301193:C:A Identity +NM_030649.3:c.1367G>A NP_085152.2:p.Arg456Gln NC_000001.11:1296250:C:T p.(Arg456Gln) NC_000001.11:1296250:C:T p.(Arg456Gln) NC_000001.11:1296250:C:T Identity +NM_001164484.2:c.619G>A NP_001157956.1:p.Val207Met NC_000010.11:49131845:C:T p.(Val207Met) NC_000010.11:49131845:C:T p.(Val207Met) NC_000010.11:49131845:C:T Identity +NM_000547.6:c.1220A>C NP_000538.3:p.His407Pro NC_000002.12:1477485:A:C p.(His407Pro) NC_000002.12:1477485:A:C p.(His407Pro) NC_000002.12:1477485:A:C Identity +NM_001304519.2:c.367C>A NP_001291448.1:p.Arg123Ser NC_000007.14:27246113:C:A p.(Arg123Ser) NC_000007.14:27246113:C:A p.(Arg123Ser) NC_000007.14:27246113:C:A Identity +NM_001080495.3:c.7516C>A NP_001073964.2:p.Pro2506Thr NC_000007.14:5313374:G:T p.(Pro2506Thr) NC_000007.14:5313374:G:T p.(Pro2506Thr) NC_000007.14:5313374:G:T Identity +NM_025069.3:c.1051G>T NP_079345.1:p.Gly351Cys NC_000008.11:37697951:G:T p.(Gly351Cys) NC_000008.11:37697951:G:T p.(Gly351Cys) NC_000008.11:37697951:G:T Identity +NM_001270.4:c.5051C>T NP_001261.2:p.Pro1684Leu NC_000005.10:98856461:G:A p.(Pro1684Leu) NC_000005.10:98856461:G:A p.(Pro1684Leu) NC_000005.10:98856461:G:A Identity +NM_001288962.2:c.806T>C NP_001275891.1:p.Ile269Thr NC_000019.10:6744815:T:C p.(Ile269Thr) NC_000019.10:6744815:T:C p.(Ile269Thr) NC_000019.10:6744815:T:C Identity +NM_001197295.2:c.1373C>T NP_001184224.1:p.Pro458Leu NC_000009.12:92505557:G:A p.(Pro458Leu) NC_000009.12:92505557:G:A p.(Pro458Leu) NC_000009.12:92505557:G:A Identity +NM_001363563.2:c.680A>T NP_001350492.1:p.His227Leu NC_000011.10:113942997:A:T p.(His227Leu) NC_000011.10:113942997:A:T p.(His227Leu) NC_000011.10:113942997:A:T Identity +NM_001795.5:c.1867C>T NP_001786.2:p.Arg623Trp NC_000016.10:66402680:C:T p.(Arg623Trp) NC_000016.10:66402680:C:T p.(Arg623Trp) NC_000016.10:66402680:C:T Identity +NM_020950.2:c.73A>G NP_066001.1:p.Thr25Ala NC_000001.11:180916175:A:G p.(Thr25Ala) NC_000001.11:180916175:A:G p.(Thr25Ala) NC_000001.11:180916175:A:G Identity +NM_152701.5:c.1365A>G NP_689914.3:p.Ile455Met NC_000007.14:48244677:A:G p.(Ile455Met) NC_000007.14:48244677:A:G p.(Ile455Met) NC_000007.14:48244677:A:G Identity +NM_194313.4:c.1394A>G NP_919289.2:p.Asp465Gly NC_000009.12:34269305:T:C p.(Asp465Gly) NC_000009.12:34269305:T:C p.(Asp465Gly) NC_000009.12:34269305:T:C Identity +NM_001286164.2:c.619G>A NP_001273093.1:p.Val207Met NC_000001.11:177032701:C:T p.(Val207Met) NC_000001.11:177032701:C:T p.(Val207Met) NC_000001.11:177032701:C:T Identity +NM_001277126.2:c.442G>C NP_001264055.1:p.Gly148Arg NC_000019.10:53811216:C:G p.(Gly148Arg) NC_000019.10:53811216:C:G p.(Gly148Arg) NC_000019.10:53811216:C:G Identity +NM_004799.4:c.666G>C NP_004790.2:p.Glu222Asp NC_000001.11:52238082:G:C p.(Glu222Asp) NC_000001.11:52238082:G:C p.(Glu222Asp) NC_000001.11:52238082:G:C Identity +NM_002292.4:c.4364G>A NP_002283.3:p.Arg1455Gln NC_000003.12:49122912:C:T p.(Arg1455Gln) NC_000003.12:49122912:C:T p.(Arg1455Gln) NC_000003.12:49122912:C:T Identity +NM_020664.4:c.748C>T NP_065715.1:p.Leu250Phe NC_000016.10:411446:C:T p.(Leu250Phe) NC_000016.10:411446:C:T p.(Leu250Phe) NC_000016.10:411446:C:T Identity +NM_001134224.2:c.2543G>A NP_001127696.1:p.Arg848Gln NC_000002.12:98572823:G:A p.(Arg848Gln) NC_000002.12:98572823:G:A p.(Arg848Gln) NC_000002.12:98572823:G:A Identity +NM_001170714.3:c.1930C>T NP_001164185.1:p.His644Tyr NC_000016.10:75235106:G:A p.(His644Tyr) NC_000016.10:75235106:G:A p.(His644Tyr) NC_000016.10:75235106:G:A Identity +NM_001349955.1:c.1213A>G NP_001336884.1:p.Ile405Val NC_000001.11:85849393:T:C p.(Ile405Val) NC_000001.11:85849393:T:C p.(Ile405Val) NC_000001.11:85849393:T:C Identity +NM_000400.4:c.467G>T NP_000391.1:p.Arg156Leu NC_000019.10:45365051:C:A p.(Arg156Leu) NC_000019.10:45365051:C:A p.(Arg156Leu) NC_000019.10:45365051:C:A Identity +NM_000501.4:c.1573G>A NP_000492.2:p.Ala525Thr NC_000007.14:74060043:G:A p.(Ala525Thr) NC_000007.14:74060043:G:A p.(Ala525Thr) NC_000007.14:74060043:G:A Identity +NM_001261826.3:c.310G>A NP_001248755.1:p.Glu104Lys NC_000019.10:2137054:C:T p.(Glu104Lys) NC_000019.10:2137054:C:T p.(Glu104Lys) NC_000019.10:2137054:C:T Identity +NM_001321768.2:c.670G>A NP_001308697.1:p.Ala224Thr NC_000019.10:56524958:G:A p.(Ala224Thr) NC_000019.10:56524958:G:A p.(Ala224Thr) NC_000019.10:56524958:G:A Identity +NM_001037984.3:c.1051G>A NP_001033073.1:p.Ala351Thr NC_000017.11:81270997:C:T p.(Ala351Thr) NC_000017.11:81270997:C:T p.(Ala351Thr) NC_000017.11:81270997:C:T Identity +NM_001172677.1:c.1714G>A NP_001166148.1:p.Ala572Thr NC_000019.10:37698413:C:T p.(Ala572Thr) NC_000019.10:37698413:C:T p.(Ala572Thr) NC_000019.10:37698413:C:T Identity +NM_001099409.3:c.1309A>G NP_001092879.1:p.Thr437Ala NC_000011.10:65581980:A:G p.(Thr437Ala) NC_000011.10:65581980:A:G p.(Thr437Ala) NC_000011.10:65581980:A:G Identity +NM_001330261.2:c.1024C>G NP_001317190.1:p.Pro342Ala NC_000017.11:48058378:C:G p.(Pro342Ala) NC_000017.11:48058378:C:G p.(Pro342Ala) NC_000017.11:48058378:C:G Identity +NM_001136469.3:c.1367C>T NP_001129941.1:p.Pro456Leu NC_000003.12:133381077:C:T p.(Pro456Leu) NC_000003.12:133381077:C:T p.(Pro456Leu) NC_000003.12:133381077:C:T Identity +NM_001353840.1:c.743G>T NP_001340769.1:p.Gly248Val NC_000023.11:57378650:G:T p.(Gly248Val) NC_000023.11:57378650:G:T p.(Gly248Val) NC_000023.11:57378650:G:T Identity +NM_138367.2:c.1667G>A NP_612376.1:p.Arg556His NC_000008.11:144721992:C:T p.(Arg556His) NC_000008.11:144721992:C:T p.(Arg556His) NC_000008.11:144721992:C:T Identity +NM_001363608.1:c.98T>C NP_001350537.1:p.Met33Thr NC_000019.10:12322616:A:G p.(Met33Thr) NC_000019.10:12322616:A:G p.(Met33Thr) NC_000019.10:12322616:A:G Identity +NM_001330192.2:c.2292G>T NP_001317121.1:p.Lys764Asn NC_000012.12:68734823:G:T p.(Lys764Asn) NC_000012.12:68734823:G:T p.(Lys764Asn) NC_000012.12:68734823:G:T Identity +NM_001321431.2:c.3757G>T NP_001308360.1:p.Asp1253Tyr NC_000019.10:8115595:C:A p.(Asp1253Tyr) NC_000019.10:8115595:C:A p.(Asp1253Tyr) NC_000019.10:8115595:C:A Identity +NM_014611.3:c.6674T>C NP_055426.1:p.Val2225Ala NC_000006.12:89716718:A:G p.(Val2225Ala) NC_000006.12:89716718:A:G p.(Val2225Ala) NC_000006.12:89716718:A:G Identity +NM_001114133.3:c.221A>G NP_001107605.1:p.Asp74Gly NC_000010.11:73654164:T:C p.(Asp74Gly) NC_000010.11:73654164:T:C p.(Asp74Gly) NC_000010.11:73654164:T:C Identity +NM_032861.4:c.1600C>T NP_116250.3:p.His534Tyr NC_000006.12:158114872:G:A p.(His534Tyr) NC_000006.12:158114872:G:A p.(His534Tyr) NC_000006.12:158114872:G:A Identity +NM_001371242.2:c.5293A>G NP_001358171.1:p.Ile1765Val NC_000006.12:106544913:A:G p.(Ile1765Val) NC_000006.12:106544913:A:G p.(Ile1765Val) NC_000006.12:106544913:A:G Identity +NM_138295.5:c.5471A>G NP_612152.1:p.Asn1824Ser NC_000007.14:47840541:T:C p.(Asn1824Ser) NC_000007.14:47840541:T:C p.(Asn1824Ser) NC_000007.14:47840541:T:C Identity +NM_001145923.2:c.1780T>C NP_001139395.1:p.Ser594Pro NC_000015.10:76665779:A:G p.(Ser594Pro) NC_000015.10:76665779:A:G p.(Ser594Pro) NC_000015.10:76665779:A:G Identity +NM_001129896.3:c.1219C>T NP_001123368.1:p.Arg407Cys NC_000023.11:100686746:G:A p.(Arg407Cys) NC_000023.11:100686746:G:A p.(Arg407Cys) NC_000023.11:100686746:G:A Identity +NM_001010906.2:c.1535G>A NP_001010906.1:p.Cys512Tyr NC_000008.11:28041126:C:T p.(Cys512Tyr) NC_000008.11:28041126:C:T p.(Cys512Tyr) NC_000008.11:28041126:C:T Identity +NM_001386065.1:c.325T>G NP_001372994.1:p.Ser109Ala NC_000007.14:104329103:T:G p.(Ser109Ala) NC_000007.14:104329103:T:G p.(Ser109Ala) NC_000007.14:104329103:T:G Identity +NM_001300906.2:c.3358T>G NP_001287835.1:p.Cys1120Gly NC_000006.12:82191814:A:C p.(Cys1120Gly) NC_000006.12:82191814:A:C p.(Cys1120Gly) NC_000006.12:82191814:A:C Identity +NM_001165946.2:c.164C>T NP_001159418.1:p.Ala55Val NC_000010.11:92479331:G:A p.(Ala55Val) NC_000010.11:92479331:G:A p.(Ala55Val) NC_000010.11:92479331:G:A Identity +NM_001307936.2:c.484A>T NP_001294865.1:p.Thr162Ser NC_000012.12:46364477:T:A p.(Thr162Ser) NC_000012.12:46364477:T:A p.(Thr162Ser) NC_000012.12:46364477:T:A Identity +NM_020231.3:c.1105T>C NP_064616.2:p.Phe369Leu NC_000003.12:119492363:T:C ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020231.3 not found +NM_001168551.2:c.518T>G NP_001162023.1:p.Val173Gly NC_000001.11:53819035:A:C p.(Val173Gly) NC_000001.11:53819035:A:C p.(Val173Gly) NC_000001.11:53819035:A:C Identity +NM_001145844.1:c.4478G>C NP_001139316.1:p.Arg1493Thr NC_000003.12:78606863:C:G ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_152405.5:c.2807A>G NP_689618.4:p.Lys936Arg NC_000005.10:79316146:A:G p.(Lys936Arg) NC_000005.10:79316146:A:G p.(Lys936Arg) NC_000005.10:79316146:A:G Identity +NM_001319839.2:c.505G>A NP_001306768.1:p.Ala169Thr NC_000012.12:125091457:G:A p.(Ala169Thr) NC_000012.12:125091457:G:A p.(Ala169Thr) NC_000012.12:125091457:G:A Identity +NM_001258282.3:c.1748C>T NP_001245211.1:p.Pro583Leu NC_000009.12:27948923:G:A p.(Pro583Leu) NC_000009.12:27948923:G:A p.(Pro583Leu) NC_000009.12:27948923:G:A Identity +NM_001287347.2:c.211G>C NP_001274276.1:p.Ala71Pro NC_000001.11:47225677:C:G p.(Ala71Pro) NC_000001.11:47225677:C:G p.(Ala71Pro) NC_000001.11:47225677:C:G Identity +NM_001387844.1:c.3635G>T NP_001374773.1:p.Gly1212Val NC_000001.11:171541100:G:T p.(Gly1212Val) NC_000001.11:171541100:G:T p.(Gly1212Val) NC_000001.11:171541100:G:T Identity +NM_015557.3:c.4268G>C NP_056372.1:p.Gly1423Ala NC_000001.11:6125225:C:G p.(Gly1423Ala) NC_000001.11:6125225:C:G p.(Gly1423Ala) NC_000001.11:6125225:C:G Identity +NM_007120.3:c.295G>C NP_009051.1:p.Gly99Arg NC_000002.12:233719114:G:C p.(Gly99Arg) NC_000002.12:233719114:G:C p.(Gly99Arg) NC_000002.12:233719114:G:C Identity +NM_000482.4:c.353A>C NP_000473.2:p.Asn118Thr NC_000011.10:116821704:T:G p.(Asn118Thr) NC_000011.10:116821704:T:G p.(Asn118Thr) NC_000011.10:116821704:T:G Identity +NM_007051.3:c.1658T>C NP_008982.1:p.Ile553Thr NC_000001.11:50475674:A:G p.(Ile553Thr) NC_000001.11:50475674:A:G p.(Ile553Thr) NC_000001.11:50475674:A:G Identity +NM_015693.4:c.396T>A NP_056508.2:p.Asn132Lys NC_000004.12:127643769:T:A p.(Asn132Lys) NC_000004.12:127643769:T:A p.(Asn132Lys) NC_000004.12:127643769:T:A Identity +NM_001267584.2:c.605C>T NP_001254513.1:p.Ser202Phe NC_000020.11:3122033:G:A p.(Ser202Phe) NC_000020.11:3122033:G:A p.(Ser202Phe) NC_000020.11:3122033:G:A Identity +NM_018557.3:c.144G>T NP_061027.2:p.Gln48His NC_000002.12:141810339:C:A p.(Gln48His) NC_000002.12:141810339:C:A p.(Gln48His) NC_000002.12:141810339:C:A Identity +NM_001039706.3:c.2431G>A NP_001034795.2:p.Asp811Asn NC_000007.14:90307065:G:A p.(Asp811Asn) NC_000007.14:90307065:G:A p.(Asp811Asn) NC_000007.14:90307065:G:A Identity +NM_016580.4:c.3505G>A NP_057664.1:p.Gly1169Arg NC_000005.10:141945430:C:T p.(Gly1169Arg) NC_000005.10:141945430:C:T p.(Gly1169Arg) NC_000005.10:141945430:C:T Identity +NM_052897.4:c.806C>T NP_443129.3:p.Pro269Leu NC_000012.12:57525773:C:T p.(Pro269Leu) NC_000012.12:57525773:C:T p.(Pro269Leu) NC_000012.12:57525773:C:T Identity +NM_001303448.2:c.1145C>T NP_001290377.1:p.Pro382Leu NC_000001.11:24654958:C:T p.(Pro382Leu) NC_000001.11:24654958:C:T p.(Pro382Leu) NC_000001.11:24654958:C:T Identity +NM_002591.4:c.758G>A NP_002582.3:p.Arg253Gln NC_000020.11:57563174:G:A p.(Arg253Gln) NC_000020.11:57563174:G:A p.(Arg253Gln) NC_000020.11:57563174:G:A Identity +NM_001273.5:c.767C>T NP_001264.2:p.Pro256Leu NC_000012.12:6601320:G:A p.(Pro256Leu) NC_000012.12:6601320:G:A p.(Pro256Leu) NC_000012.12:6601320:G:A Identity +NM_022781.5:c.825T>A NP_073618.3:p.His275Gln NC_000009.12:36356386:A:T p.(His275Gln) NC_000009.12:36356386:A:T p.(His275Gln) NC_000009.12:36356386:A:T Identity +NM_001206741.2:c.29C>T NP_001193670.1:p.Pro10Leu NC_000001.11:209704970:C:T p.(Pro10Leu) NC_000001.11:209704970:C:T p.(Pro10Leu) NC_000001.11:209704970:C:T Identity +NM_017781.3:c.518G>C NP_060251.2:p.Trp173Ser NC_000007.14:985195:G:C p.(Trp173Ser) NC_000007.14:985195:G:C p.(Trp173Ser) NC_000007.14:985195:G:C Identity +NM_001144995.2:c.995C>G NP_001138467.1:p.Pro332Arg NC_000014.9:99517163:G:C p.(Pro332Arg) NC_000014.9:99517163:G:C p.(Pro332Arg) NC_000014.9:99517163:G:C Identity +NM_001384474.1:c.2968C>T NP_001371403.1:p.His990Tyr NC_000018.10:46560175:G:A p.(His990Tyr) NC_000018.10:46560175:G:A p.(His990Tyr) NC_000018.10:46560175:G:A Identity +NM_001037335.2:c.7378G>A NP_001032412.2:p.Ala2460Thr NC_000020.11:63560600:C:T p.(Ala2460Thr) NC_000020.11:63560600:C:T p.(Ala2460Thr) NC_000020.11:63560600:C:T Identity +NM_001172128.2:c.694G>A NP_001165599.1:p.Val232Ile NC_000015.10:81273107:G:A p.(Val232Ile) NC_000015.10:81273107:G:A p.(Val232Ile) NC_000015.10:81273107:G:A Identity +NM_005245.4:c.7720G>A NP_005236.2:p.Gly2574Arg NC_000004.12:186618865:C:T p.(Gly2574Arg) NC_000004.12:186618865:C:T p.(Gly2574Arg) NC_000004.12:186618865:C:T Identity +NM_024335.3:c.131C>A NP_077311.2:p.Ala44Glu NC_000016.10:55326420:C:A p.(Ala44Glu) NC_000016.10:55326420:C:A p.(Ala44Glu) NC_000016.10:55326420:C:A Identity +NM_001297704.3:c.3041C>G NP_001284633.1:p.Ser1014Cys NC_000001.11:81979938:C:G p.(Ser1014Cys) NC_000001.11:81979938:C:G p.(Ser1014Cys) NC_000001.11:81979938:C:G Identity +NM_001080495.3:c.3368G>A NP_001073964.2:p.Arg1123His NC_000007.14:5371225:C:T p.(Arg1123His) NC_000007.14:5371225:C:T p.(Arg1123His) NC_000007.14:5371225:C:T Identity +NM_004860.4:c.1685G>C NP_004851.2:p.Gly562Ala NC_000017.11:7592737:C:G p.(Gly562Ala) NC_000017.11:7592737:C:G p.(Gly562Ala) NC_000017.11:7592737:C:G Identity +NM_001330488.2:c.1229G>C NP_001317417.1:p.Gly410Ala NC_000001.11:33354913:C:G p.(Gly410Ala) NC_000001.11:33354913:C:G p.(Gly410Ala) NC_000001.11:33354913:C:G Identity +NM_178556.5:c.464C>T NP_848651.2:p.Ala155Val NC_000004.12:188140582:C:T p.(Ala155Val) NC_000004.12:188140582:C:T p.(Ala155Val) NC_000004.12:188140582:C:T Identity +NM_001080463.2:c.11468A>G NP_001073932.1:p.Asn3823Ser NC_000011.10:103307784:A:G p.(Asn3823Ser) NC_000011.10:103307784:A:G p.(Asn3823Ser) NC_000011.10:103307784:A:G Identity +NM_005677.4:c.253G>A NP_005668.2:p.Glu85Lys NC_000003.12:15488273:C:T p.(Glu85Lys) NC_000003.12:15488273:C:T p.(Glu85Lys) NC_000003.12:15488273:C:T Identity +NM_001324400.1:c.589A>G NP_001311329.1:p.Thr197Ala NC_000007.14:123129452:T:C p.(Thr197Ala) NC_000007.14:123129452:T:C p.(Thr197Ala) NC_000007.14:123129452:T:C Identity +NM_012263.5:c.722C>G NP_036395.1:p.Thr241Ser NC_000022.11:43063837:G:C p.(Thr241Ser) NC_000022.11:43063837:G:C p.(Thr241Ser) NC_000022.11:43063837:G:C Identity +NM_001722.3:c.946T>C NP_001713.2:p.Cys316Arg NC_000008.11:22250098:T:C p.(Cys316Arg) NC_000008.11:22250098:T:C p.(Cys316Arg) NC_000008.11:22250098:T:C Identity +NM_018924.5:c.32C>T NP_061747.2:p.Ala11Val NC_000005.10:141370425:C:T p.(Ala11Val) NC_000005.10:141370425:C:T p.(Ala11Val) NC_000005.10:141370425:C:T Identity +NM_001077442.2:c.763G>C NP_001070910.1:p.Gly255Arg NC_000014.9:21211479:C:G p.(Gly255Arg) NC_000014.9:21211479:C:G p.(Gly255Arg) NC_000014.9:21211479:C:G Identity +NM_001105193.2:c.2498G>A NP_001098663.1:p.Arg833His NC_000002.12:130764569:G:A p.(Arg833His) NC_000002.12:130764569:G:A p.(Arg833His) NC_000002.12:130764569:G:A Identity +NM_020820.4:c.4178G>A NP_065871.3:p.Arg1393Gln NC_000020.11:48634764:C:T p.(Arg1393Gln) NC_000020.11:48634764:C:T p.(Arg1393Gln) NC_000020.11:48634764:C:T Identity +NM_207013.3:c.464T>C NP_996896.1:p.Val155Ala NC_000016.10:2771493:A:G p.(Val155Ala) NC_000016.10:2771493:A:G p.(Val155Ala) NC_000016.10:2771493:A:G Identity +NM_005173.4:c.2737C>T NP_005164.2:p.Leu913Phe NC_000017.11:3930307:G:A p.(Leu913Phe) NC_000017.11:3930307:G:A p.(Leu913Phe) NC_000017.11:3930307:G:A Identity +NM_025248.3:c.1648C>T NP_079524.2:p.Arg550Cys NC_000017.11:38561514:G:A p.(Arg550Cys) NC_000017.11:38561514:G:A p.(Arg550Cys) NC_000017.11:38561514:G:A Identity +NM_001363910.2:c.1163A>G NP_001350839.1:p.Lys388Arg NC_000002.12:209693344:A:G p.(Lys388Arg) NC_000002.12:209693344:A:G p.(Lys388Arg) NC_000002.12:209693344:A:G Identity +NM_001351298.2:c.1445C>T NP_001338227.1:p.Ser482Leu NC_000003.12:184191148:C:T p.(Ser482Leu) NC_000003.12:184191148:C:T p.(Ser482Leu) NC_000003.12:184191148:C:T Identity +NM_001365906.3:c.1061C>G NP_001352835.1:p.Ser354Cys NC_000014.9:73252741:C:G p.(Ser354Cys) NC_000014.9:73252741:C:G p.(Ser354Cys) NC_000014.9:73252741:C:G Identity +NM_000537.4:c.391G>A NP_000528.1:p.Asp131Asn NC_000001.11:204160660:C:T p.(Asp131Asn) NC_000001.11:204160660:C:T p.(Asp131Asn) NC_000001.11:204160660:C:T Identity +NM_001244889.2:c.316C>T NP_001231818.1:p.Arg106Cys NC_000010.11:71284730:C:T p.(Arg106Cys) NC_000010.11:71284730:C:T p.(Arg106Cys) NC_000010.11:71284730:C:T Identity +NM_024734.4:c.776A>G NP_079010.2:p.His259Arg NC_000014.9:95210711:T:C p.(His259Arg) NC_000014.9:95210711:T:C p.(His259Arg) NC_000014.9:95210711:T:C Identity +NM_013286.5:c.271G>A NP_037418.3:p.Gly91Ser NC_000003.12:51391669:G:A p.(Gly91Ser) NC_000003.12:51391669:G:A p.(Gly91Ser) NC_000003.12:51391669:G:A Identity +NM_001282428.2:c.550G>A NP_001269357.1:p.Ala184Thr NC_000002.12:17931557:G:A p.(Ala184Thr) NC_000002.12:17931557:G:A p.(Ala184Thr) NC_000002.12:17931557:G:A Identity +NM_003104.6:c.956A>C NP_003095.2:p.Lys319Thr NC_000015.10:45073411:A:C p.(Lys319Thr) NC_000015.10:45073411:A:C p.(Lys319Thr) NC_000015.10:45073411:A:C Identity +NM_032242.4:c.3229C>G NP_115618.3:p.Arg1077Gly NC_000003.12:127016989:C:G p.(Arg1077Gly) NC_000003.12:127016989:C:G p.(Arg1077Gly) NC_000003.12:127016989:C:G Identity +NM_001167985.2:c.379G>A NP_001161457.1:p.Gly127Arg NC_000017.11:4988915:C:T p.(Gly127Arg) NC_000017.11:4988915:C:T p.(Gly127Arg) NC_000017.11:4988915:C:T Identity +NM_001142610.2:c.890G>A NP_001136082.1:p.Gly297Asp NC_000017.11:19825127:C:T p.(Gly297Asp) NC_000017.11:19825127:C:T p.(Gly297Asp) NC_000017.11:19825127:C:T Identity +NM_005576.4:c.910G>C NP_005567.2:p.Asp304His NC_000015.10:73927692:G:C p.(Asp304His) NC_000015.10:73927692:G:C p.(Asp304His) NC_000015.10:73927692:G:C Identity +NM_018149.7:c.1133G>A NP_060619.4:p.Arg378Gln NC_000017.11:59211183:G:A p.(Arg378Gln) NC_000017.11:59211183:G:A p.(Arg378Gln) NC_000017.11:59211183:G:A Identity +NM_001195731.2:c.979C>T NP_001182660.2:p.Arg327Trp NC_000002.12:219540245:G:A p.(Arg327Trp) NC_000002.12:219540245:G:A p.(Arg327Trp) NC_000002.12:219540245:G:A Identity +NM_003970.4:c.2588A>G NP_003961.3:p.Asn863Ser NC_000008.11:2101022:A:G p.(Asn863Ser) NC_000008.11:2101022:A:G p.(Asn863Ser) NC_000008.11:2101022:A:G Identity +NM_001143909.1:c.388C>A NP_001137381.1:p.Pro130Thr NC_000010.11:103246383:C:A p.(Pro130Thr) NC_000010.11:103246383:C:A p.(Pro130Thr) NC_000010.11:103246383:C:A Identity +NM_001111031.2:c.313C>G NP_001104501.1:p.Leu105Val NC_000002.12:157556173:G:C p.(Leu105Val) NC_000002.12:157556173:G:C p.(Leu105Val) NC_000002.12:157556173:G:C Identity +NM_001136214.4:c.49C>T NP_001129686.1:p.Leu17Phe NC_000016.10:69951414:C:T p.(Leu17Phe) NC_000016.10:69951414:C:T p.(Leu17Phe) NC_000016.10:69951414:C:T Identity +NM_001318245.2:c.1301A>G NP_001305174.1:p.Lys434Arg NC_000022.11:25769216:A:G p.(Lys434Arg) NC_000022.11:25769216:A:G p.(Lys434Arg) NC_000022.11:25769216:A:G Identity +NM_001243253.2:c.821G>A NP_001230182.1:p.Arg274Lys NC_000005.10:149995527:C:T p.(Arg274Lys) NC_000005.10:149995527:C:T p.(Arg274Lys) NC_000005.10:149995527:C:T Identity +NM_001134655.2:c.1219G>A NP_001128127.1:p.Gly407Ser NC_000016.10:3141185:G:A p.(Gly407Ser) NC_000016.10:3141185:G:A p.(Gly407Ser) NC_000016.10:3141185:G:A Identity +NM_001290331.2:c.941G>A NP_001277260.1:p.Ser314Asn NC_000019.10:6472973:C:T p.(Ser314Asn) NC_000019.10:6472973:C:T p.(Ser314Asn) NC_000019.10:6472973:C:T Identity +NM_002013.4:c.245C>T NP_002004.1:p.Ser82Phe NC_000014.9:45129866:G:A p.(Ser82Phe) NC_000014.9:45129866:G:A p.(Ser82Phe) NC_000014.9:45129866:G:A Identity +NM_033225.6:c.1696A>T NP_150094.5:p.Thr566Ser NC_000008.11:3409470:T:A p.(Thr566Ser) NC_000008.11:3409470:T:A p.(Thr566Ser) NC_000008.11:3409470:T:A Identity +NM_001352017.2:c.639C>A NP_001338946.1:p.Ser213Arg NC_000016.10:870008:G:T p.(Ser213Arg) NC_000016.10:870008:G:T p.(Ser213Arg) NC_000016.10:870008:G:T Identity +NM_001243532.2:c.908G>A NP_001230461.1:p.Arg303Gln NC_000001.11:26122458:G:A p.(Arg303Gln) NC_000001.11:26122458:G:A p.(Arg303Gln) NC_000001.11:26122458:G:A Identity +NM_001007525.5:c.3599G>A NP_001007526.3:p.Ser1200Asn NC_000019.10:16800024:G:A p.(Ser1200Asn) NC_000019.10:16800024:G:A p.(Ser1200Asn) NC_000019.10:16800024:G:A Identity +NM_025014.2:c.1832T>G NP_079290.1:p.Leu611Arg NC_000017.11:8318621:T:G p.(Leu611Arg) NC_000017.11:8318621:T:G p.(Leu611Arg) NC_000017.11:8318621:T:G Identity +NM_001006947.2:c.881C>T NP_001006948.1:p.Thr294Met NC_000012.12:100089054:G:A p.(Thr294Met) NC_000012.12:100089054:G:A p.(Thr294Met) NC_000012.12:100089054:G:A Identity +NM_001399870.1:c.430G>A NP_001386799.1:p.Glu144Lys NC_000023.11:30855234:C:T p.(Glu144Lys) NC_000023.11:30855234:C:T p.(Glu144Lys) NC_000023.11:30855234:C:T Identity +NM_001297616.2:c.878T>C NP_001284545.1:p.Leu293Pro NC_000004.12:69485231:A:G p.(Leu293Pro) NC_000004.12:69485231:A:G p.(Leu293Pro) NC_000004.12:69485231:A:G Identity +NM_005157.6:c.2960C>T NP_005148.2:p.Ser987Leu NC_000009.12:130885249:C:T p.(Ser987Leu) NC_000009.12:130885249:C:T p.(Ser987Leu) NC_000009.12:130885249:C:T Identity +NM_001416243.1:c.56A>T NP_001403172.1:p.Lys19Met NC_000010.11:124791777:T:A p.(Lys19Met) NC_000010.11:124791777:T:A p.(Lys19Met) NC_000010.11:124791777:T:A Identity +NM_004719.3:c.3730C>T NP_004710.2:p.Arg1244Cys NC_000012.12:45924903:G:A p.(Arg1244Cys) NC_000012.12:45924903:G:A p.(Arg1244Cys) NC_000012.12:45924903:G:A Identity +NM_032142.4:c.668A>C NP_115518.3:p.Tyr223Ser NC_000018.10:13017214:A:C p.(Tyr223Ser) NC_000018.10:13017214:A:C p.(Tyr223Ser) NC_000018.10:13017214:A:C Identity +NM_001013355.2:c.44T>C NP_001013373.1:p.Leu15Pro NC_000001.11:248521689:T:C p.(Leu15Pro) NC_000001.11:248521689:T:C p.(Leu15Pro) NC_000001.11:248521689:T:C Identity +NM_001301132.2:c.2254C>G NP_001288061.1:p.Pro752Ala NC_000015.10:40466043:C:G p.(Pro752Ala) NC_000015.10:40466043:C:G p.(Pro752Ala) NC_000015.10:40466043:C:G Identity +NM_001197051.2:c.869G>A NP_001183980.1:p.Arg290Gln NC_000011.10:58612291:G:A p.(Arg290Gln) NC_000011.10:58612291:G:A p.(Arg290Gln) NC_000011.10:58612291:G:A Identity +NM_001199096.2:c.1967T>G NP_001186025.1:p.Val656Gly NC_000016.10:1345756:T:G p.(Val656Gly) NC_000016.10:1345756:T:G p.(Val656Gly) NC_000016.10:1345756:T:G Identity +NM_018917.4:c.343T>G NP_061740.2:p.Leu115Val NC_000005.10:141355449:T:G p.(Leu115Val) NC_000005.10:141355449:T:G p.(Leu115Val) NC_000005.10:141355449:T:G Identity +NM_194449.4:c.2080A>G NP_919431.2:p.Lys694Glu NC_000018.10:62895023:A:G p.(Lys694Glu) NC_000018.10:62895023:A:G p.(Lys694Glu) NC_000018.10:62895023:A:G Identity +NM_001037161.2:c.829G>A NP_001032238.1:p.Val277Ile NC_000014.9:73543217:G:A p.(Val277Ile) NC_000014.9:73543217:G:A p.(Val277Ile) NC_000014.9:73543217:G:A Identity +NM_001345864.2:c.697A>G NP_001332793.1:p.Arg233Gly NC_000002.12:98194480:A:G p.(Arg233Gly) NC_000002.12:98194480:A:G p.(Arg233Gly) NC_000002.12:98194480:A:G Identity +NM_001317776.2:c.731T>C NP_001304705.1:p.Ile244Thr NC_000004.12:82917374:T:C p.(Ile244Thr) NC_000004.12:82917374:T:C p.(Ile244Thr) NC_000004.12:82917374:T:C Identity +NM_001077665.3:c.1157G>T NP_001071133.2:p.Ser386Ile NC_000010.11:50009281:G:T p.(Ser386Ile) NC_000010.11:50009281:G:T p.(Ser386Ile) NC_000010.11:50009281:G:T Identity +NM_001365029.1:c.2521C>G NP_001351958.1:p.Arg841Gly NC_000009.12:17394974:C:G p.(Arg841Gly) NC_000009.12:17394974:C:G p.(Arg841Gly) NC_000009.12:17394974:C:G Identity +NM_001164440.2:c.993C>A NP_001157912.1:p.Ser331Arg NC_000005.10:10649620:C:A p.(Ser331Arg) NC_000005.10:10649620:C:A p.(Ser331Arg) NC_000005.10:10649620:C:A Identity +NM_000154.2:c.829C>T NP_000145.1:p.Arg277Trp NC_000017.11:75758563:G:A p.(Arg277Trp) NC_000017.11:75758563:G:A p.(Arg277Trp) NC_000017.11:75758563:G:A Identity +NM_001287819.3:c.205C>T NP_001274748.1:p.Leu69Phe NC_000001.11:196489907:G:A p.(Leu69Phe) NC_000001.11:196489907:G:A p.(Leu69Phe) NC_000001.11:196489907:G:A Identity +NM_001177663.2:c.3418G>A NP_001171134.1:p.Gly1140Ser NC_000002.12:151462937:G:A p.(Gly1140Ser) NC_000002.12:151462937:G:A p.(Gly1140Ser) NC_000002.12:151462937:G:A Identity +NM_001370498.1:c.280C>A NP_001357427.1:p.Arg94Ser NC_000011.10:7488276:C:A p.(Arg94Ser) NC_000011.10:7488276:C:A p.(Arg94Ser) NC_000011.10:7488276:C:A Identity +NM_015658.4:c.1153G>T NP_056473.3:p.Ala385Ser NC_000001.11:952449:C:A p.(Ala385Ser) NC_000001.11:952449:C:A p.(Ala385Ser) NC_000001.11:952449:C:A Identity +NM_001323316.2:c.626G>A NP_001310245.1:p.Arg209His NC_000020.11:38148015:C:T p.(Arg209His) NC_000020.11:38148015:C:T p.(Arg209His) NC_000020.11:38148015:C:T Identity +NM_145804.3:c.1315A>G NP_665803.2:p.Ser439Gly NC_000011.10:34173236:T:C p.(Ser439Gly) NC_000011.10:34173236:T:C p.(Ser439Gly) NC_000011.10:34173236:T:C Identity +NM_001166136.2:c.2953G>C NP_001159608.1:p.Asp985His NC_000004.12:5576318:C:G p.(Asp985His) NC_000004.12:5576318:C:G p.(Asp985His) NC_000004.12:5576318:C:G Identity +NM_001204813.2:c.207G>T NP_001191742.1:p.Gln69His NC_000006.12:85450345:G:T p.(Gln69His) NC_000006.12:85450345:G:T p.(Gln69His) NC_000006.12:85450345:G:T Identity +NM_005345.6:c.151A>C NP_005336.3:p.Ile51Leu NC_000006.12:31815906:A:C p.(Ile51Leu) NC_000006.12:31815906:A:C p.(Ile51Leu) NC_000006.12:31815906:A:C Identity +NM_001145844.1:c.4526A>G NP_001139316.1:p.Gln1509Arg NC_000003.12:78606815:T:C ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_001317086.2:c.158A>C NP_001304015.1:p.Asn53Thr NC_000011.10:116787832:T:G p.(Asn53Thr) NC_000011.10:116787832:T:G p.(Asn53Thr) NC_000011.10:116787832:T:G Identity +NM_001164463.1:c.5098C>G NP_001157935.1:p.Gln1700Glu NC_000002.12:112378217:G:C p.(Gln1700Glu) NC_000002.12:112378217:G:C p.(Gln1700Glu) NC_000002.12:112378217:G:C Identity +NM_001166247.1:c.2059G>A NP_001159719.1:p.Asp687Asn NC_000006.12:101928605:G:A p.(Asp687Asn) NC_000006.12:101928605:G:A p.(Asp687Asn) NC_000006.12:101928605:G:A Identity +NM_006662.3:c.8324G>A NP_006653.2:p.Ser2775Asn NC_000016.10:30738363:G:A p.(Ser2775Asn) NC_000016.10:30738363:G:A p.(Ser2775Asn) NC_000016.10:30738363:G:A Identity +NM_001136025.5:c.1696T>G NP_001129497.1:p.Cys566Gly NC_000023.11:115647952:T:G p.(Cys566Gly) NC_000023.11:115647952:T:G p.(Cys566Gly) NC_000023.11:115647952:T:G Identity +NM_052950.4:c.1045G>A NP_443182.1:p.Glu349Lys NC_000013.11:51756442:G:A p.(Glu349Lys) NC_000013.11:51756442:G:A p.(Glu349Lys) NC_000013.11:51756442:G:A Identity +NM_003716.4:c.11C>T NP_003707.2:p.Pro4Leu NC_000003.12:62875018:G:A p.(Pro4Leu) NC_000003.12:62875018:G:A p.(Pro4Leu) NC_000003.12:62875018:G:A Identity +NM_024042.4:c.683C>T NP_076947.1:p.Ser228Phe NC_000016.10:717187:C:T p.(Ser228Phe) NC_000016.10:717187:C:T p.(Ser228Phe) NC_000016.10:717187:C:T Identity +NM_001330417.2:c.3139A>C NP_001317346.2:p.Ile1047Leu NC_000017.11:61869138:T:G p.(Ile1047Leu) NC_000017.11:61869138:T:G p.(Ile1047Leu) NC_000017.11:61869138:T:G Identity +NM_001375567.1:c.1424C>T NP_001362496.1:p.Thr475Ile NC_000009.12:20789576:C:T p.(Thr475Ile) NC_000009.12:20789576:C:T p.(Thr475Ile) NC_000009.12:20789576:C:T Identity +NM_005593.3:c.83T>C NP_005584.2:p.Phe28Ser NC_000012.12:80717145:T:C p.(Phe28Ser) NC_000012.12:80717145:T:C p.(Phe28Ser) NC_000012.12:80717145:T:C Identity +NM_022481.6:c.2633G>A NP_071926.4:p.Gly878Glu NC_000005.10:141665313:C:T p.(Gly878Glu) NC_000005.10:141665313:C:T p.(Gly878Glu) NC_000005.10:141665313:C:T Identity +NM_001199096.2:c.2756G>A NP_001186025.1:p.Arg919His NC_000016.10:1347584:G:A p.(Arg919His) NC_000016.10:1347584:G:A p.(Arg919His) NC_000016.10:1347584:G:A Identity +NM_052911.3:c.632A>G NP_443143.2:p.Gln211Arg NC_000018.10:21574211:T:C p.(Gln211Arg) NC_000018.10:21574211:T:C p.(Gln211Arg) NC_000018.10:21574211:T:C Identity +NM_173084.3:c.614C>A NP_775107.1:p.Thr205Lys NC_000003.12:160438569:G:T p.(Thr205Lys) NC_000003.12:160438569:G:T p.(Thr205Lys) NC_000003.12:160438569:G:T Identity +NM_002224.4:c.5159C>T NP_002215.2:p.Ala1720Val NC_000006.12:33684794:C:T p.(Ala1720Val) NC_000006.12:33684794:C:T p.(Ala1720Val) NC_000006.12:33684794:C:T Identity +NM_001321471.2:c.2582A>C NP_001308400.1:p.Gln861Pro NC_000001.11:36301631:A:C p.(Gln861Pro) NC_000001.11:36301631:A:C p.(Gln861Pro) NC_000001.11:36301631:A:C Identity +NM_001168322.2:c.259G>C NP_001161794.1:p.Glu87Gln NC_000017.11:43848772:G:C p.(Glu87Gln) NC_000017.11:43848772:G:C p.(Glu87Gln) NC_000017.11:43848772:G:C Identity +NM_001135659.3:c.3635C>T NP_001129131.1:p.Ser1212Leu NC_000002.12:50236819:G:A p.(Ser1212Leu) NC_000002.12:50236819:G:A p.(Ser1212Leu) NC_000002.12:50236819:G:A Identity +NM_001385028.1:c.328G>A NP_001371957.1:p.Gly110Ser NC_000015.10:66094467:C:T p.(Gly110Ser) NC_000015.10:66094467:C:T p.(Gly110Ser) NC_000015.10:66094467:C:T Identity +NM_033440.3:c.500G>A NP_254275.1:p.Gly167Glu NC_000001.11:15466004:G:A p.(Gly167Glu) NC_000001.11:15466004:G:A p.(Gly167Glu) NC_000001.11:15466004:G:A Identity +NM_001253826.2:c.1129G>T NP_001240755.1:p.Ala377Ser NC_000002.12:30929431:C:A p.(Ala377Ser) NC_000002.12:30929431:C:A p.(Ala377Ser) NC_000002.12:30929431:C:A Identity +NM_007208.4:c.607T>C NP_009139.1:p.Tyr203His NC_000003.12:131487701:A:G p.(Tyr203His) NC_000003.12:131487701:A:G p.(Tyr203His) NC_000003.12:131487701:A:G Identity +NM_015057.5:c.100C>G NP_055872.4:p.Pro34Ala NC_000013.11:77326675:G:C p.(Pro34Ala) NC_000013.11:77326675:G:C p.(Pro34Ala) NC_000013.11:77326675:G:C Identity +NM_022358.4:c.543C>G NP_071753.2:p.Phe181Leu NC_000020.11:44750387:C:G p.(Phe181Leu) NC_000020.11:44750387:C:G p.(Phe181Leu) NC_000020.11:44750387:C:G Identity +NM_001349127.2:c.245G>A NP_001336056.1:p.Arg82His NC_000001.11:43992329:G:A p.(Arg82His) NC_000001.11:43992329:G:A p.(Arg82His) NC_000001.11:43992329:G:A Identity +NM_018451.5:c.992T>C NP_060921.3:p.Ile331Thr NC_000013.11:24907175:A:G p.(Ile331Thr) NC_000013.11:24907175:A:G p.(Ile331Thr) NC_000013.11:24907175:A:G Identity +NM_001168298.2:c.992T>C NP_001161770.1:p.Ile331Thr NC_000002.12:218135792:T:C p.(Ile331Thr) NC_000002.12:218135792:T:C p.(Ile331Thr) NC_000002.12:218135792:T:C Identity +NM_004482.4:c.466G>A NP_004473.2:p.Asp156Asn NC_000002.12:165770234:C:T p.(Asp156Asn) NC_000002.12:165770234:C:T p.(Asp156Asn) NC_000002.12:165770234:C:T Identity +NM_001288824.4:c.215A>G NP_001275753.1:p.Tyr72Cys NC_000005.10:132862474:T:C p.(Tyr72Cys) NC_000005.10:132862474:T:C p.(Tyr72Cys) NC_000005.10:132862474:T:C Identity +NM_001270965.2:c.247T>G NP_001257894.1:p.Trp83Gly NC_000010.11:102416791:A:C p.(Trp83Gly) NC_000010.11:102416791:A:C p.(Trp83Gly) NC_000010.11:102416791:A:C Identity +NM_001346370.2:c.592G>A NP_001333299.1:p.Ala198Thr NC_000009.12:137574255:C:T p.(Ala198Thr) NC_000009.12:137574255:C:T p.(Ala198Thr) NC_000009.12:137574255:C:T Identity +NM_001142683.3:c.571A>G NP_001136155.1:p.Lys191Glu NC_000002.12:27627714:T:C p.(Lys191Glu) NC_000002.12:27627714:T:C p.(Lys191Glu) NC_000002.12:27627714:T:C Identity +NM_001193300.2:c.1271A>G NP_001180229.1:p.Gln424Arg NC_000001.11:156172961:A:G p.(Gln424Arg) NC_000001.11:156172961:A:G p.(Gln424Arg) NC_000001.11:156172961:A:G Identity +NM_014709.4:c.1760A>G NP_055524.3:p.Asp587Gly NC_000002.12:61348394:T:C p.(Asp587Gly) NC_000002.12:61348394:T:C p.(Asp587Gly) NC_000002.12:61348394:T:C Identity +NM_000906.4:c.1884C>G NP_000897.3:p.Ser628Arg NC_000001.11:153687035:C:G p.(Ser628Arg) NC_000001.11:153687035:C:G p.(Ser628Arg) NC_000001.11:153687035:C:G Identity +NM_000911.4:c.1067G>A NP_000902.3:p.Arg356His NC_000001.11:28863230:G:A p.(Arg356His) NC_000001.11:28863230:G:A p.(Arg356His) NC_000001.11:28863230:G:A Identity +NM_001323623.2:c.355T>C NP_001310552.1:p.Ser119Pro NC_000001.11:37590734:A:G p.(Ser119Pro) NC_000001.11:37590734:A:G p.(Ser119Pro) NC_000001.11:37590734:A:G Identity +NM_001114090.2:c.778G>A NP_001107562.1:p.Val260Met NC_000002.12:232892985:C:T p.(Val260Met) NC_000002.12:232892985:C:T p.(Val260Met) NC_000002.12:232892985:C:T Identity +NM_001130161.4:c.670A>G NP_001123633.1:p.Met224Val NC_000010.11:68884465:A:G p.(Met224Val) NC_000010.11:68884465:A:G p.(Met224Val) NC_000010.11:68884465:A:G Identity +NM_004209.6:c.601G>A NP_004200.2:p.Gly201Ser NC_000016.10:1992982:G:A p.(Gly201Ser) NC_000016.10:1992982:G:A p.(Gly201Ser) NC_000016.10:1992982:G:A Identity +NM_001018071.4:c.3026G>A NP_001018081.4:p.Cys1009Tyr NC_000010.11:48174918:C:T p.(Cys1009Tyr) NC_000010.11:48174918:C:T p.(Cys1009Tyr) NC_000010.11:48174918:C:T Identity +NM_001277115.2:c.8496T>G NP_001264044.1:p.Asp2832Glu NC_000007.14:21745048:T:G p.(Asp2832Glu) NC_000007.14:21745048:T:G p.(Asp2832Glu) NC_000007.14:21745048:T:G Identity +NM_001223.5:c.772G>T NP_001214.1:p.Val258Leu NC_000011.10:105029691:C:A p.(Val258Leu) NC_000011.10:105029691:C:A p.(Val258Leu) NC_000011.10:105029691:C:A Identity +NM_001001918.1:c.262A>G NP_001001918.1:p.Thr88Ala NC_000001.11:248349035:A:G p.(Thr88Ala) NC_000001.11:248349035:A:G p.(Thr88Ala) NC_000001.11:248349035:A:G Identity +NM_001363185.1:c.9721G>C NP_001350114.1:p.Gly3241Arg NC_000008.11:112244474:C:G p.(Gly3241Arg) NC_000008.11:112244474:C:G p.(Gly3241Arg) NC_000008.11:112244474:C:G Identity +NM_016616.5:c.206C>G NP_057700.3:p.Ala69Gly NC_000007.14:37857280:C:G p.(Ala69Gly) NC_000007.14:37857280:C:G p.(Ala69Gly) NC_000007.14:37857280:C:G Identity +NM_001145118.2:c.3551T>A NP_001138590.1:p.Met1184Lys NC_000007.14:6498076:A:T p.(Met1184Lys) NC_000007.14:6498076:A:T p.(Met1184Lys) NC_000007.14:6498076:A:T Identity +NM_001017973.1:c.345C>A NP_001017973.1:p.Asn115Lys NC_000005.10:132214039:G:T ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found ERR:AlignmentMapper(tx_ac=NM_001017973.1, alt_ac=NM_001017973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001017973.1, alt_ac=NM_001017973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found +NM_001172557.2:c.767C>T NP_001166028.1:p.Ala256Val NC_000012.12:132808301:G:A p.(Ala256Val) NC_000012.12:132808301:G:A p.(Ala256Val) NC_000012.12:132808301:G:A Identity +NM_001080523.3:c.659G>A NP_001073992.2:p.Gly220Asp NC_000019.10:4891373:C:T p.(Gly220Asp) NC_000019.10:4891373:C:T p.(Gly220Asp) NC_000019.10:4891373:C:T Identity +NM_181536.2:c.1803C>G NP_853514.1:p.His601Gln NC_000016.10:71973473:G:C p.(His601Gln) NC_000016.10:71973473:G:C p.(His601Gln) NC_000016.10:71973473:G:C Identity +NM_004373.4:c.106C>T NP_004364.2:p.Arg36Cys NC_000012.12:120438380:C:T p.(Arg36Cys) NC_000012.12:120438380:C:T p.(Arg36Cys) NC_000012.12:120438380:C:T Identity +NM_001322340.2:c.977G>A NP_001309269.2:p.Arg326Gln NC_000009.12:132647048:C:T p.(Arg326Gln) NC_000009.12:132647048:C:T p.(Arg326Gln) NC_000009.12:132647048:C:T Identity +NM_001321851.1:c.4676A>G NP_001308780.1:p.Asn1559Ser NC_000014.9:91999986:T:C p.(Asn1559Ser) NC_000014.9:91999986:T:C p.(Asn1559Ser) NC_000014.9:91999986:T:C Identity +NM_000917.4:c.161A>G NP_000908.2:p.Glu54Gly NC_000010.11:73073742:T:C p.(Glu54Gly) NC_000010.11:73073742:T:C p.(Glu54Gly) NC_000010.11:73073742:T:C Identity +NM_018930.4:c.821A>G NP_061753.1:p.Asn274Ser NC_000005.10:141193372:A:G p.(Asn274Ser) NC_000005.10:141193372:A:G p.(Asn274Ser) NC_000005.10:141193372:A:G Identity +NM_001171906.2:c.70C>G NP_001165377.1:p.His24Asp NC_000003.12:131381873:C:G p.(His24Asp) NC_000003.12:131381873:C:G p.(His24Asp) NC_000003.12:131381873:C:G Identity +NM_001103160.2:c.533C>T NP_001096630.1:p.Ser178Leu NC_000001.11:20724096:G:A p.(Ser178Leu) NC_000001.11:20724096:G:A p.(Ser178Leu) NC_000001.11:20724096:G:A Identity +NM_001350268.2:c.932C>T NP_001337197.1:p.Ala311Val NC_000023.11:102749926:C:T p.(Ala311Val) NC_000023.11:102749926:C:T p.(Ala311Val) NC_000023.11:102749926:C:T Identity +NM_144633.3:c.3014A>G NP_653234.2:p.His1005Arg NC_000003.12:19533788:A:G p.(His1005Arg) NC_000003.12:19533788:A:G p.(His1005Arg) NC_000003.12:19533788:A:G Identity +NM_000494.4:c.1936A>G NP_000485.3:p.Arg646Gly NC_000010.11:104053033:T:C p.(Arg646Gly) NC_000010.11:104053033:T:C p.(Arg646Gly) NC_000010.11:104053033:T:C Identity +NM_001257194.1:c.880C>T NP_001244123.1:p.Arg294Trp NC_000005.10:137639904:G:A p.(Arg294Trp) NC_000005.10:137639904:G:A p.(Arg294Trp) NC_000005.10:137639904:G:A Identity +NM_016602.3:c.445G>T NP_057686.2:p.Gly149Trp NC_000017.11:42680196:C:A p.(Gly149Trp) NC_000017.11:42680196:C:A p.(Gly149Trp) NC_000017.11:42680196:C:A Identity +NM_001320644.2:c.1628C>T NP_001307573.1:p.Ala543Val NC_000010.11:122586227:C:T p.(Ala543Val) NC_000010.11:122586227:C:T p.(Ala543Val) NC_000010.11:122586227:C:T Identity +NM_001300959.2:c.1763C>G NP_001287888.1:p.Ala588Gly NC_000007.14:44764948:C:G p.(Ala588Gly) NC_000007.14:44764948:C:G p.(Ala588Gly) NC_000007.14:44764948:C:G Identity +NM_018059.5:c.2983C>A NP_060529.4:p.His995Asn NC_000007.14:4799768:G:T p.(His995Asn) NC_000007.14:4799768:G:T p.(His995Asn) NC_000007.14:4799768:G:T Identity +NM_001160045.2:c.296G>A NP_001153517.1:p.Arg99His NC_000012.12:57465842:G:A p.(Arg99His) NC_000012.12:57465842:G:A p.(Arg99His) NC_000012.12:57465842:G:A Identity +NM_001007471.4:c.4375A>G NP_001007472.2:p.Ile1459Val NC_000009.12:70536701:T:C p.(Ile1459Val) NC_000009.12:70536701:T:C p.(Ile1459Val) NC_000009.12:70536701:T:C Identity +NM_017564.10:c.5241G>C NP_060034.9:p.Leu1747Phe NC_000012.12:103731592:G:C p.(Leu1747Phe) NC_000012.12:103731592:G:C p.(Leu1747Phe) NC_000012.12:103731592:G:C Identity +NM_001178088.2:c.1264G>A NP_001171559.1:p.Gly422Arg NC_000006.12:158071635:G:A p.(Gly422Arg) NC_000006.12:158071635:G:A p.(Gly422Arg) NC_000006.12:158071635:G:A Identity +NM_033345.4:c.61A>G NP_203131.1:p.Met21Val NC_000001.11:182671675:T:C p.(Met21Val) NC_000001.11:182671675:T:C p.(Met21Val) NC_000001.11:182671675:T:C Identity +NM_020125.3:c.128T>C NP_064510.1:p.Phe43Ser NC_000001.11:159829952:T:C p.(Phe43Ser) NC_000001.11:159829952:T:C p.(Phe43Ser) NC_000001.11:159829952:T:C Identity +NM_003417.5:c.305C>T NP_003408.1:p.Ala102Val NC_000019.10:57211401:C:T p.(Ala102Val) NC_000019.10:57211401:C:T p.(Ala102Val) NC_000019.10:57211401:C:T Identity +NM_018398.3:c.2083C>T NP_060868.2:p.Leu695Phe NC_000003.12:54887984:C:T p.(Leu695Phe) NC_000003.12:54887984:C:T p.(Leu695Phe) NC_000003.12:54887984:C:T Identity +NM_001174103.2:c.914C>T NP_001167574.1:p.Ala305Val NC_000017.11:28611239:G:A p.(Ala305Val) NC_000017.11:28611239:G:A p.(Ala305Val) NC_000017.11:28611239:G:A Identity +NM_001314021.2:c.401C>T NP_001300950.1:p.Ala134Val NC_000001.11:229635013:C:T p.(Ala134Val) NC_000001.11:229635013:C:T p.(Ala134Val) NC_000001.11:229635013:C:T Identity +NM_000381.4:c.1586G>C NP_000372.1:p.Gly529Ala NC_000023.11:10454938:C:G p.(Gly529Ala) NC_000023.11:10454938:C:G p.(Gly529Ala) NC_000023.11:10454938:C:G Identity +NM_194314.3:c.1609A>G NP_919290.2:p.Ile537Val NC_000001.11:197181054:T:C p.(Ile537Val) NC_000001.11:197181054:T:C p.(Ile537Val) NC_000001.11:197181054:T:C Identity +NM_021161.5:c.1576C>T NP_066984.1:p.Arg526Trp NC_000014.9:88185575:G:A p.(Arg526Trp) NC_000014.9:88185575:G:A p.(Arg526Trp) NC_000014.9:88185575:G:A Identity +NM_001367484.1:c.1984C>T NP_001354413.1:p.Pro662Ser NC_000001.11:53509926:G:A p.(Pro662Ser) NC_000001.11:53509926:G:A p.(Pro662Ser) NC_000001.11:53509926:G:A Identity +NM_178527.4:c.2656G>A NP_848622.2:p.Ala886Thr NC_000001.11:173521383:C:T p.(Ala886Thr) NC_000001.11:173521383:C:T p.(Ala886Thr) NC_000001.11:173521383:C:T Identity +NM_001144769.5:c.4276A>C NP_001138241.1:p.Lys1426Gln NC_000006.12:56629349:T:G p.(Lys1426Gln) NC_000006.12:56629349:T:G p.(Lys1426Gln) NC_000006.12:56629349:T:G Identity +NM_001042369.2:c.24G>A NP_001035828.1:p.Met8Ile NC_000001.11:193069077:G:A p.(Met8Ile) NC_000001.11:193069077:G:A p.(Met8Ile) NC_000001.11:193069077:G:A Identity +NM_001330192.2:c.2458C>G NP_001317121.1:p.Leu820Val NC_000012.12:68741854:C:G p.(Leu820Val) NC_000012.12:68741854:C:G p.(Leu820Val) NC_000012.12:68741854:C:G Identity +NM_032109.3:c.253G>C NP_115485.1:p.Gly85Arg NC_000005.10:77637014:C:G p.(Gly85Arg) NC_000005.10:77637014:C:G p.(Gly85Arg) NC_000005.10:77637014:C:G Identity +NM_000960.4:c.821A>G NP_000951.1:p.Asp274Gly NC_000019.10:46621619:T:C p.(Asp274Gly) NC_000019.10:46621619:T:C p.(Asp274Gly) NC_000019.10:46621619:T:C Identity +NM_001308426.2:c.497T>C NP_001295355.1:p.Val166Ala NC_000003.12:48294700:A:G p.(Val166Ala) NC_000003.12:48294700:A:G p.(Val166Ala) NC_000003.12:48294700:A:G Identity +NM_001256134.2:c.1127G>C NP_001243063.1:p.Gly376Ala NC_000013.11:113171962:G:C p.(Gly376Ala) NC_000013.11:113171962:G:C p.(Gly376Ala) NC_000013.11:113171962:G:C Identity +NM_001039706.3:c.1820A>G NP_001034795.2:p.Glu607Gly NC_000007.14:90297792:A:G p.(Glu607Gly) NC_000007.14:90297792:A:G p.(Glu607Gly) NC_000007.14:90297792:A:G Identity +NM_174916.3:c.35T>G NP_777576.1:p.Met12Arg NC_000015.10:43105987:A:C p.(Met12Arg) NC_000015.10:43105987:A:C p.(Met12Arg) NC_000015.10:43105987:A:C Identity +NM_001007257.3:c.294G>A NP_001007258.1:p.Met98Ile NC_000001.11:13778691:G:A p.(Met98Ile) NC_000001.11:13778691:G:A p.(Met98Ile) NC_000001.11:13778691:G:A Identity +NM_000676.4:c.253G>T NP_000667.1:p.Val85Leu NC_000017.11:15945500:G:T p.(Val85Leu) NC_000017.11:15945500:G:T p.(Val85Leu) NC_000017.11:15945500:G:T Identity +NM_175922.4:c.811C>T NP_787118.2:p.Arg271Cys NC_000006.12:166307331:G:A p.(Arg271Cys) NC_000006.12:166307331:G:A p.(Arg271Cys) NC_000006.12:166307331:G:A Identity +NM_001130841.2:c.139G>T NP_001124313.1:p.Gly47Cys NC_000001.11:100266616:G:T p.(Gly47Cys) NC_000001.11:100266616:G:T p.(Gly47Cys) NC_000001.11:100266616:G:T Identity +NM_001417890.1:c.440C>T NP_001404819.1:p.Ala147Val NC_000023.11:119591266:G:A ERR:TranscriptMismatch:expected C, found G at transcript indices 868..869 NC_000023.11:119591263:C:A ERR:NM_001417890.1:c.440C>T: Variant reference (C) does not agree with reference sequence (G) ERR:NM_001417890.1:c.440C>T: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001033714.3:c.2400G>T NP_001028886.1:p.Arg800Ser NC_000012.12:6557019:C:A p.(Arg800Ser) NC_000012.12:6557019:C:A p.(Arg800Ser) NC_000012.12:6557019:C:A Identity +NM_001161476.3:c.298G>A NP_001154948.1:p.Gly100Arg NC_000014.9:100381221:G:A p.(Gly100Arg) NC_000014.9:100381221:G:A p.(Gly100Arg) NC_000014.9:100381221:G:A Identity +NM_170606.3:c.6379T>G NP_733751.2:p.Ser2127Ala NC_000007.14:152181480:A:C p.(Ser2127Ala) NC_000007.14:152181480:A:C p.(Ser2127Ala) NC_000007.14:152181480:A:C Identity +NM_020820.4:c.802A>C NP_065871.3:p.Ile268Leu NC_000020.11:48700867:T:G p.(Ile268Leu) NC_000020.11:48700867:T:G p.(Ile268Leu) NC_000020.11:48700867:T:G Identity +NM_001348189.2:c.861T>A NP_001335118.1:p.Asn287Lys NC_000008.11:81801583:A:T p.(Asn287Lys) NC_000008.11:81801583:A:T p.(Asn287Lys) NC_000008.11:81801583:A:T Identity +NM_001025604.3:c.367C>A NP_001020775.1:p.Arg123Ser NC_000019.10:18009010:C:A p.(Arg123Ser) NC_000019.10:18009010:C:A p.(Arg123Ser) NC_000019.10:18009010:C:A Identity +NM_007165.5:c.707C>G NP_009096.2:p.Pro236Arg NC_000019.10:2247857:C:G p.(Pro236Arg) NC_000019.10:2247857:C:G p.(Pro236Arg) NC_000019.10:2247857:C:G Identity +NM_153813.3:c.2294C>A NP_722520.2:p.Ala765Glu NC_000016.10:88534251:C:A p.(Ala765Glu) NC_000016.10:88534251:C:A p.(Ala765Glu) NC_000016.10:88534251:C:A Identity +NM_001365878.1:c.70A>G NP_001352807.1:p.Met24Val NC_000022.11:37185379:T:C p.(Met24Val) NC_000022.11:37185379:T:C p.(Met24Val) NC_000022.11:37185379:T:C Identity +NM_001363887.1:c.127G>T NP_001350816.1:p.Gly43Cys NC_000003.12:197791404:G:T p.(Gly43Cys) NC_000003.12:197791404:G:T p.(Gly43Cys) NC_000003.12:197791404:G:T Identity +NM_198578.4:c.2081T>C NP_940980.4:p.Leu694Pro NC_000012.12:40278100:T:C p.(Leu694Pro) NC_000012.12:40278100:T:C p.(Leu694Pro) NC_000012.12:40278100:T:C Identity +NM_003934.2:c.850G>T NP_003925.1:p.Gly284Cys NC_000009.12:130622785:G:T p.(Gly284Cys) NC_000009.12:130622785:G:T p.(Gly284Cys) NC_000009.12:130622785:G:T Identity +NM_020440.4:c.937G>T NP_065173.2:p.Val313Leu NC_000001.11:116949295:G:T p.(Val313Leu) NC_000001.11:116949295:G:T p.(Val313Leu) NC_000001.11:116949295:G:T Identity +NM_003462.5:c.658C>T NP_003453.3:p.Arg220Trp NC_000001.11:37562161:C:T p.(Arg220Trp) NC_000001.11:37562161:C:T p.(Arg220Trp) NC_000001.11:37562161:C:T Identity +NM_001144856.2:c.620C>A NP_001138328.1:p.Thr207Asn NC_000012.12:6316267:C:A p.(Thr207Asn) NC_000012.12:6316267:C:A p.(Thr207Asn) NC_000012.12:6316267:C:A Identity +NM_001394463.1:c.884G>A NP_001381392.1:p.Arg295His NC_000002.12:85435816:G:A p.(Arg295His) NC_000002.12:85435816:G:A p.(Arg295His) NC_000002.12:85435816:G:A Identity +NM_032290.4:c.1580T>G NP_115666.2:p.Ile527Ser NC_000005.10:94670197:T:G p.(Ile527Ser) NC_000005.10:94670197:T:G p.(Ile527Ser) NC_000005.10:94670197:T:G Identity +NM_001320748.2:c.1541A>T NP_001307677.1:p.His514Leu NC_000002.12:134954427:A:T p.(His514Leu) NC_000002.12:134954427:A:T p.(His514Leu) NC_000002.12:134954427:A:T Identity +NM_001346218.2:c.3978G>A NP_001333147.1:p.Met1326Ile NC_000014.9:93613019:G:A p.(Met1326Ile) NC_000014.9:93613019:G:A p.(Met1326Ile) NC_000014.9:93613019:G:A Identity +NM_198578.4:c.4381C>A NP_940980.4:p.Gln1461Lys NC_000012.12:40310493:C:A p.(Gln1461Lys) NC_000012.12:40310493:C:A p.(Gln1461Lys) NC_000012.12:40310493:C:A Identity +NM_001128626.2:c.1912A>G NP_001122098.1:p.Ile638Val NC_000018.10:12452354:T:C p.(Ile638Val) NC_000018.10:12452354:T:C p.(Ile638Val) NC_000018.10:12452354:T:C Identity +NM_001365029.1:c.1363T>C NP_001351958.1:p.Ser455Pro NC_000009.12:17330652:T:C p.(Ser455Pro) NC_000009.12:17330652:T:C p.(Ser455Pro) NC_000009.12:17330652:T:C Identity +NM_207371.4:c.622C>A NP_997254.3:p.Pro208Thr NC_000010.11:21517200:G:T p.(Pro208Thr) NC_000010.11:21517200:G:T p.(Pro208Thr) NC_000010.11:21517200:G:T Identity +NM_001184998.2:c.3314G>A NP_001171927.1:p.Arg1105Lys NC_000016.10:15612716:C:T p.(Arg1105Lys) NC_000016.10:15612716:C:T p.(Arg1105Lys) NC_000016.10:15612716:C:T Identity +NM_001127366.3:c.1322T>G NP_001120838.1:p.Leu441Arg NC_000002.12:222202038:A:C p.(Leu441Arg) NC_000002.12:222202038:A:C p.(Leu441Arg) NC_000002.12:222202038:A:C Identity +NM_001365116.2:c.2105C>A NP_001352045.1:p.Thr702Lys NC_000003.12:46996325:C:A p.(Thr702Lys) NC_000003.12:46996325:C:A p.(Thr702Lys) NC_000003.12:46996325:C:A Identity +NM_001134848.2:c.616G>A NP_001128320.1:p.Val206Ile NC_000005.10:42799431:G:A p.(Val206Ile) NC_000005.10:42799431:G:A p.(Val206Ile) NC_000005.10:42799431:G:A Identity +NM_015657.4:c.1867A>G NP_056472.2:p.Arg623Gly NC_000002.12:215001599:T:C p.(Arg623Gly) NC_000002.12:215001599:T:C p.(Arg623Gly) NC_000002.12:215001599:T:C Identity +NM_002581.5:c.4154G>A NP_002572.2:p.Gly1385Glu NC_000009.12:116352894:G:A p.(Gly1385Glu) NC_000009.12:116352894:G:A p.(Gly1385Glu) NC_000009.12:116352894:G:A Identity +NM_001320493.2:c.407G>A NP_001307422.1:p.Ser136Asn NC_000003.12:86969119:C:T p.(Ser136Asn) NC_000003.12:86969119:C:T p.(Ser136Asn) NC_000003.12:86969119:C:T Identity +NM_004326.4:c.3322C>T NP_004317.2:p.Pro1108Ser NC_000001.11:147623999:C:T p.(Pro1108Ser) NC_000001.11:147623999:C:T p.(Pro1108Ser) NC_000001.11:147623999:C:T Identity +NM_178836.4:c.268G>C NP_849158.2:p.Ala90Pro NC_000017.11:17206018:C:G p.(Ala90Pro) NC_000017.11:17206018:C:G p.(Ala90Pro) NC_000017.11:17206018:C:G Identity +NM_001165977.3:c.1121A>C NP_001159449.1:p.Lys374Thr NC_000002.12:95278990:A:C p.(Lys374Thr) NC_000002.12:95278990:A:C p.(Lys374Thr) NC_000002.12:95278990:A:C Identity +NM_001256421.1:c.1159G>T NP_001243350.1:p.Val387Phe NC_000004.12:83598676:G:T p.(Val387Phe) NC_000004.12:83598676:G:T p.(Val387Phe) NC_000004.12:83598676:G:T Identity +NM_007113.4:c.47A>G NP_009044.2:p.Asn16Ser NC_000001.11:152114033:T:C p.(Asn16Ser) NC_000001.11:152114033:T:C p.(Asn16Ser) NC_000001.11:152114033:T:C Identity +NM_001318082.2:c.1958G>A NP_001305011.1:p.Arg653Gln NC_000007.14:99531686:G:A p.(Arg653Gln) NC_000007.14:99531686:G:A p.(Arg653Gln) NC_000007.14:99531686:G:A Identity +NM_001365999.1:c.1802G>A NP_001352928.1:p.Ser601Asn NC_000001.11:43422511:G:A p.(Ser601Asn) NC_000001.11:43422511:G:A p.(Ser601Asn) NC_000001.11:43422511:G:A Identity +NM_000682.7:c.379C>A NP_000673.2:p.Arg127Ser NC_000002.12:96115770:G:T p.(Arg127Ser) NC_000002.12:96115770:G:T p.(Arg127Ser) NC_000002.12:96115770:G:T Identity +NM_002817.4:c.302G>A NP_002808.3:p.Arg101His NC_000011.10:244461:G:A p.(Arg101His) NC_000011.10:244461:G:A p.(Arg101His) NC_000011.10:244461:G:A Identity +NM_024818.6:c.91G>T NP_079094.1:p.Gly31Cys NC_000003.12:132660627:G:T p.(Gly31Cys) NC_000003.12:132660627:G:T p.(Gly31Cys) NC_000003.12:132660627:G:T Identity +NM_001161630.1:c.740C>T NP_001155102.1:p.Ser247Leu NC_000011.10:95026296:C:T p.(Ser247Leu) NC_000011.10:95026296:C:T p.(Ser247Leu) NC_000011.10:95026296:C:T Identity +NM_203301.4:c.119G>A NP_976046.1:p.Gly40Glu NC_000014.9:39432043:C:T p.(Gly40Glu) NC_000014.9:39432043:C:T p.(Gly40Glu) NC_000014.9:39432043:C:T Identity +NM_000871.3:c.1267A>G NP_000862.1:p.Ile423Val NC_000001.11:19679311:A:G p.(Ile423Val) NC_000001.11:19679311:A:G p.(Ile423Val) NC_000001.11:19679311:A:G Identity +NM_018288.4:c.142A>G NP_060758.2:p.Met48Val NC_000006.12:169721056:T:C p.(Met48Val) NC_000006.12:169721056:T:C p.(Met48Val) NC_000006.12:169721056:T:C Identity +NM_001398481.1:c.1012A>G NP_001385410.1:p.Lys338Glu NC_000017.11:55047148:A:G p.(Lys338Glu) NC_000017.11:55047148:A:G p.(Lys338Glu) NC_000017.11:55047148:A:G Identity +NM_001398.3:c.696G>C NP_001389.2:p.Met232Ile NC_000019.10:38816318:C:G p.(Met232Ile) NC_000019.10:38816318:C:G p.(Met232Ile) NC_000019.10:38816318:C:G Identity +NM_001135254.2:c.905C>A NP_001128726.1:p.Pro302His NC_000001.11:18700770:C:A p.(Pro302His) NC_000001.11:18700770:C:A p.(Pro302His) NC_000001.11:18700770:C:A Identity +NM_000179.3:c.84A>C NP_000170.1:p.Ser28= NC_000002.12:47783316:A:C p.(Ser28=) NC_000002.12:47783316:A:C p.(Ser28=) NC_000002.12:47783316:A:C Identity +NM_000260.4:c.94G>A NP_000251.3:p.Asp32Asn NC_000011.10:77142783:G:A p.(Asp32Asn) NC_000011.10:77142783:G:A p.(Asp32Asn) NC_000011.10:77142783:G:A Identity +NM_001382485.1:c.1010G>T NP_001369414.1:p.Arg337Ile NC_000018.10:56694661:G:T p.(Arg337Ile) NC_000018.10:56694661:G:T p.(Arg337Ile) NC_000018.10:56694661:G:T Identity +NM_001173408.2:c.1159G>A NP_001166879.1:p.Glu387Lys NC_000002.12:219568177:C:T p.(Glu387Lys) NC_000002.12:219568177:C:T p.(Glu387Lys) NC_000002.12:219568177:C:T Identity +NM_001365276.2:c.5974G>A NP_001352205.1:p.Glu1992Lys NC_000006.12:32068635:C:T p.(Glu1992Lys) NC_000006.12:32068635:C:T p.(Glu1992Lys) NC_000006.12:32068635:C:T Identity +NM_002245.4:c.388G>A NP_002236.1:p.Gly130Ser NC_000001.11:233666626:G:A p.(Gly130Ser) NC_000001.11:233666626:G:A p.(Gly130Ser) NC_000001.11:233666626:G:A Identity +NM_000489.6:c.1286C>A NP_000480.3:p.Thr429Asn NC_000023.11:77683969:G:T p.(Thr429Asn) NC_000023.11:77683969:G:T p.(Thr429Asn) NC_000023.11:77683969:G:T Identity +NM_198465.4:c.4363A>C NP_940867.2:p.Ile1455Leu NC_000023.11:105949583:A:C p.(Ile1455Leu) NC_000023.11:105949583:A:C p.(Ile1455Leu) NC_000023.11:105949583:A:C Identity +NM_020062.4:c.1019C>T NP_064446.2:p.Pro340Leu NC_000020.11:63742756:C:T p.(Pro340Leu) NC_000020.11:63742756:C:T p.(Pro340Leu) NC_000020.11:63742756:C:T Identity +NM_001077663.3:c.1530G>T NP_001071131.1:p.Glu510Asp NC_000007.14:43877932:C:A p.(Glu510Asp) NC_000007.14:43877932:C:A p.(Glu510Asp) NC_000007.14:43877932:C:A Identity +NM_144683.4:c.283G>A NP_653284.2:p.Asp95Asn NC_000017.11:28901579:C:T p.(Asp95Asn) NC_000017.11:28901579:C:T p.(Asp95Asn) NC_000017.11:28901579:C:T Identity +NM_001849.4:c.2990T>A NP_001840.3:p.Phe997Tyr NC_000021.9:46132481:T:A p.(Phe997Tyr) NC_000021.9:46132481:T:A p.(Phe997Tyr) NC_000021.9:46132481:T:A Identity +NM_004770.3:c.99C>G NP_004761.2:p.Cys33Trp NC_000008.11:72567832:C:G p.(Cys33Trp) NC_000008.11:72567832:C:G p.(Cys33Trp) NC_000008.11:72567832:C:G Identity +NM_007167.4:c.1529G>A NP_009098.3:p.Arg510Gln NC_000001.11:35008887:C:T p.(Arg510Gln) NC_000001.11:35008887:C:T p.(Arg510Gln) NC_000001.11:35008887:C:T Identity +NM_031213.4:c.435C>A NP_112490.3:p.Ser145Arg NC_000019.10:1880945:G:T p.(Ser145Arg) NC_000019.10:1880945:G:T p.(Ser145Arg) NC_000019.10:1880945:G:T Identity +NM_001080437.3:c.455C>G NP_001073906.1:p.Ala152Gly NC_000002.12:241030524:C:G p.(Ala152Gly) NC_000002.12:241030524:C:G p.(Ala152Gly) NC_000002.12:241030524:C:G Identity +NM_001042450.4:c.454C>A NP_001035915.1:p.Leu152Met NC_000017.11:18969051:C:A p.(Leu152Met) NC_000017.11:18969051:C:A p.(Leu152Met) NC_000017.11:18969051:C:A Identity +NM_001159387.2:c.891C>G NP_001152859.1:p.Asp297Glu NC_000017.11:49164211:C:G p.(Asp297Glu) NC_000017.11:49164211:C:G p.(Asp297Glu) NC_000017.11:49164211:C:G Identity +NM_001099338.2:c.1570A>G NP_001092808.1:p.Met524Val NC_000010.11:87232820:A:G p.(Met524Val) NC_000010.11:87232820:A:G p.(Met524Val) NC_000010.11:87232820:A:G Identity +NM_001190864.2:c.407C>T NP_001177793.1:p.Ala136Val NC_000012.12:27724070:C:T p.(Ala136Val) NC_000012.12:27724070:C:T p.(Ala136Val) NC_000012.12:27724070:C:T Identity +NM_012084.4:c.1083C>A NP_036216.2:p.Phe361Leu NC_000023.11:121048766:C:A p.(Phe361Leu) NC_000023.11:121048766:C:A p.(Phe361Leu) NC_000023.11:121048766:C:A Identity +NM_001126131.2:c.2440G>C NP_001119603.1:p.Val814Leu NC_000015.10:89322001:C:G p.(Val814Leu) NC_000015.10:89322001:C:G p.(Val814Leu) NC_000015.10:89322001:C:G Identity +NM_006039.5:c.2152G>C NP_006030.2:p.Glu718Gln NC_000017.11:62678602:G:C p.(Glu718Gln) NC_000017.11:62678602:G:C p.(Glu718Gln) NC_000017.11:62678602:G:C Identity +NM_001002292.4:c.712T>C NP_001002292.3:p.Phe238Leu NC_000001.11:68153601:A:G p.(Phe238Leu) NC_000001.11:68153601:A:G p.(Phe238Leu) NC_000001.11:68153601:A:G Identity +NM_006125.3:c.347G>A NP_006116.2:p.Gly116Asp NC_000023.11:11664481:C:T p.(Gly116Asp) NC_000023.11:11664481:C:T p.(Gly116Asp) NC_000023.11:11664481:C:T Identity +NM_006662.3:c.7460C>T NP_006653.2:p.Pro2487Leu NC_000016.10:30737499:C:T p.(Pro2487Leu) NC_000016.10:30737499:C:T p.(Pro2487Leu) NC_000016.10:30737499:C:T Identity +NM_004714.3:c.82C>G NP_004705.1:p.Leu28Val NC_000019.10:39830764:G:C p.(Leu28Val) NC_000019.10:39830764:G:C p.(Leu28Val) NC_000019.10:39830764:G:C Identity +NM_000336.3:c.1130A>T NP_000327.2:p.Tyr377Phe NC_000016.10:23371860:A:T p.(Tyr377Phe) NC_000016.10:23371860:A:T p.(Tyr377Phe) NC_000016.10:23371860:A:T Identity +NM_001080428.3:c.989T>C NP_001073897.2:p.Met330Thr NC_000005.10:168090742:T:C p.(Met330Thr) NC_000005.10:168090742:T:C p.(Met330Thr) NC_000005.10:168090742:T:C Identity +NM_005172.2:c.326G>A NP_005163.1:p.Ser109Asn NC_000004.12:93829251:G:A p.(Ser109Asn) NC_000004.12:93829251:G:A p.(Ser109Asn) NC_000004.12:93829251:G:A Identity +NM_001969.5:c.644G>A NP_001960.2:p.Arg215Gln NC_000014.9:103338792:G:A p.(Arg215Gln) NC_000014.9:103338792:G:A p.(Arg215Gln) NC_000014.9:103338792:G:A Identity +NM_175882.3:c.1103G>A NP_787078.2:p.Arg368Gln NC_000017.11:45846008:G:A p.(Arg368Gln) NC_000017.11:45846008:G:A p.(Arg368Gln) NC_000017.11:45846008:G:A Identity +NM_001277731.2:c.1171A>G NP_001264660.1:p.Met391Val NC_000017.11:42852513:A:G p.(Met391Val) NC_000017.11:42852513:A:G p.(Met391Val) NC_000017.11:42852513:A:G Identity +NM_001282386.1:c.425C>T NP_001269315.1:p.Thr142Ile NC_000002.12:208245413:G:A p.(Thr142Ile) NC_000002.12:208245413:G:A p.(Thr142Ile) NC_000002.12:208245413:G:A Identity +NM_032119.4:c.15328A>G NP_115495.3:p.Ser5110Gly NC_000005.10:90810587:A:G p.(Ser5110Gly) NC_000005.10:90810587:A:G p.(Ser5110Gly) NC_000005.10:90810587:A:G Identity +NM_001284395.2:c.556G>A NP_001271324.1:p.Glu186Lys NC_000015.10:89705612:G:A p.(Glu186Lys) NC_000015.10:89705612:G:A p.(Glu186Lys) NC_000015.10:89705612:G:A Identity +NM_002980.3:c.404G>A NP_002971.2:p.Arg135Gln NC_000002.12:119473453:C:T p.(Arg135Gln) NC_000002.12:119473453:C:T p.(Arg135Gln) NC_000002.12:119473453:C:T Identity +NM_001005275.2:c.410G>C NP_001005275.2:p.Arg137Pro NC_000011.10:55368382:G:C p.(Arg137Pro) NC_000011.10:55368382:G:C p.(Arg137Pro) NC_000011.10:55368382:G:C Identity +NM_001351675.1:c.559G>A NP_001338604.1:p.Ala187Thr NC_000019.10:38405521:G:A p.(Ala187Thr) NC_000019.10:38405521:G:A p.(Ala187Thr) NC_000019.10:38405521:G:A Identity +NM_170606.3:c.7472C>T NP_733751.2:p.Thr2491Ile NC_000007.14:152177980:G:A p.(Thr2491Ile) NC_000007.14:152177980:G:A p.(Thr2491Ile) NC_000007.14:152177980:G:A Identity +NM_001411087.1:c.1123A>G NP_001398016.1:p.Asn375Asp NC_000019.10:45032673:A:G p.(Asn375Asp) NC_000019.10:45032673:A:G p.(Asn375Asp) NC_000019.10:45032673:A:G Identity +NM_001363341.2:c.342G>T NP_001350270.1:p.Arg114Ser NC_000004.12:151719523:C:A p.(Arg114Ser) NC_000004.12:151719523:C:A p.(Arg114Ser) NC_000004.12:151719523:C:A Identity +NM_001145206.2:c.2284C>G NP_001138678.1:p.Leu762Val NC_000022.11:25039413:C:G p.(Leu762Val) NC_000022.11:25039413:C:G p.(Leu762Val) NC_000022.11:25039413:C:G Identity +NM_032982.4:c.32C>T NP_116764.2:p.Thr11Ile NC_000007.14:143288486:C:T p.(Thr11Ile) NC_000007.14:143288486:C:T p.(Thr11Ile) NC_000007.14:143288486:C:T Identity +NM_000812.4:c.1259G>C NP_000803.2:p.Arg420Pro NC_000004.12:47425851:G:C p.(Arg420Pro) NC_000004.12:47425851:G:C p.(Arg420Pro) NC_000004.12:47425851:G:C Identity +NM_001286398.3:c.1126C>T NP_001273327.1:p.Pro376Ser NC_000006.12:125057950:C:T p.(Pro376Ser) NC_000006.12:125057950:C:T p.(Pro376Ser) NC_000006.12:125057950:C:T Identity +NM_000367.5:c.690G>C NP_000358.1:p.Trp230Cys NC_000006.12:18130715:C:G p.(Trp230Cys) NC_000006.12:18130715:C:G p.(Trp230Cys) NC_000006.12:18130715:C:G Identity +NM_001038705.3:c.1287C>A NP_001033794.1:p.Asn429Lys NC_000003.12:154421374:G:T p.(Asn429Lys) NC_000003.12:154421374:G:T p.(Asn429Lys) NC_000003.12:154421374:G:T Identity +NM_001378213.1:c.1778G>A NP_001365142.1:p.Arg593Gln NC_000011.10:118901964:C:T p.(Arg593Gln) NC_000011.10:118901964:C:T p.(Arg593Gln) NC_000011.10:118901964:C:T Identity +NM_020664.4:c.127C>T NP_065715.1:p.Arg43Trp NC_000016.10:405001:C:T p.(Arg43Trp) NC_000016.10:405001:C:T p.(Arg43Trp) NC_000016.10:405001:C:T Identity +NM_018227.6:c.3064G>T NP_060697.4:p.Val1022Leu NC_000004.12:67619091:C:A p.(Val1022Leu) NC_000004.12:67619091:C:A p.(Val1022Leu) NC_000004.12:67619091:C:A Identity +NM_001388306.1:c.705C>G NP_001375235.1:p.Cys235Trp NC_000019.10:1254357:C:G p.(Cys235Trp) NC_000019.10:1254357:C:G p.(Cys235Trp) NC_000019.10:1254357:C:G Identity +NM_001080532.3:c.1214G>C NP_001074001.1:p.Gly405Ala NC_000015.10:81346422:C:G p.(Gly405Ala) NC_000015.10:81346422:C:G p.(Gly405Ala) NC_000015.10:81346422:C:G Identity +NM_001320252.2:c.342G>T NP_001307181.1:p.Glu114Asp NC_000001.11:170552158:G:T p.(Glu114Asp) NC_000001.11:170552158:G:T p.(Glu114Asp) NC_000001.11:170552158:G:T Identity +NM_032233.3:c.575A>G NP_115609.2:p.Asp192Gly NC_000014.9:99458378:T:C p.(Asp192Gly) NC_000014.9:99458378:T:C p.(Asp192Gly) NC_000014.9:99458378:T:C Identity +NM_030628.2:c.1712C>T NP_085131.1:p.Thr571Met NC_000011.10:62648367:G:A p.(Thr571Met) NC_000011.10:62648367:G:A p.(Thr571Met) NC_000011.10:62648367:G:A Identity +NM_003363.4:c.755A>G NP_003354.2:p.Tyr252Cys NC_000003.12:49311594:T:C p.(Tyr252Cys) NC_000003.12:49311594:T:C p.(Tyr252Cys) NC_000003.12:49311594:T:C Identity +NM_001122847.3:c.25G>A NP_001116319.1:p.Glu9Lys NC_000012.12:209961:C:T p.(Glu9Lys) NC_000012.12:209961:C:T p.(Glu9Lys) NC_000012.12:209961:C:T Identity +NM_001142556.2:c.86T>C NP_001136028.1:p.Leu29Ser NC_000005.10:163463894:T:C p.(Leu29Ser) NC_000005.10:163463894:T:C p.(Leu29Ser) NC_000005.10:163463894:T:C Identity +NM_022785.4:c.2176A>T NP_073622.2:p.Ile726Phe NC_000022.11:43632160:T:A p.(Ile726Phe) NC_000022.11:43632160:T:A p.(Ile726Phe) NC_000022.11:43632160:T:A Identity +NM_004416.3:c.1772C>T NP_004407.2:p.Thr591Met NC_000012.12:113096847:C:T p.(Thr591Met) NC_000012.12:113096847:C:T p.(Thr591Met) NC_000012.12:113096847:C:T Identity +NM_175881.5:c.676G>C NP_787077.1:p.Ala226Pro NC_000015.10:75727390:G:C p.(Ala226Pro) NC_000015.10:75727390:G:C p.(Ala226Pro) NC_000015.10:75727390:G:C Identity +NM_001005286.2:c.256C>G NP_001005286.1:p.Leu86Val NC_000001.11:247712499:G:C p.(Leu86Val) NC_000001.11:247712499:G:C p.(Leu86Val) NC_000001.11:247712499:G:C Identity +NM_001385481.1:c.337G>A NP_001372410.1:p.Asp113Asn NC_000023.11:153462626:C:T p.(Asp113Asn) NC_000023.11:153462626:C:T p.(Asp113Asn) NC_000023.11:153462626:C:T Identity +NM_032834.4:c.445C>G NP_116223.3:p.Leu149Val NC_000012.12:34025937:C:G p.(Leu149Val) NC_000012.12:34025937:C:G p.(Leu149Val) NC_000012.12:34025937:C:G Identity +NM_021138.4:c.1460A>G NP_066961.2:p.Asp487Gly NC_000009.12:136925854:A:G p.(Asp487Gly) NC_000009.12:136925854:A:G p.(Asp487Gly) NC_000009.12:136925854:A:G Identity +NM_001290256.2:c.511A>G NP_001277185.1:p.Met171Val NC_000014.9:24431648:A:G p.(Met171Val) NC_000014.9:24431648:A:G p.(Met171Val) NC_000014.9:24431648:A:G Identity +NM_001017415.2:c.1015A>G NP_001017415.1:p.Ile339Val NC_000001.11:62445194:A:G p.(Ile339Val) NC_000001.11:62445194:A:G p.(Ile339Val) NC_000001.11:62445194:A:G Identity +NM_015557.3:c.2824G>T NP_056372.1:p.Ala942Ser NC_000001.11:6135275:C:A p.(Ala942Ser) NC_000001.11:6135275:C:A p.(Ala942Ser) NC_000001.11:6135275:C:A Identity +NM_001297704.3:c.3283C>T NP_001284633.1:p.Leu1095Phe NC_000001.11:81984633:C:T p.(Leu1095Phe) NC_000001.11:81984633:C:T p.(Leu1095Phe) NC_000001.11:81984633:C:T Identity +NM_002812.5:c.56C>T NP_002803.2:p.Thr19Ile NC_000019.10:38374656:C:T p.(Thr19Ile) NC_000019.10:38374656:C:T p.(Thr19Ile) NC_000019.10:38374656:C:T Identity +NM_001111038.2:c.1681G>C NP_001104508.1:p.Val561Leu NC_000007.14:102854814:C:G p.(Val561Leu) NC_000007.14:102854814:C:G p.(Val561Leu) NC_000007.14:102854814:C:G Identity +NM_173860.3:c.347C>T NP_776272.1:p.Pro116Leu NC_000012.12:53955275:C:T p.(Pro116Leu) NC_000012.12:53955275:C:T p.(Pro116Leu) NC_000012.12:53955275:C:T Identity +NM_001015002.2:c.121A>G NP_001015002.1:p.Ser41Gly NC_000017.11:75556090:A:G p.(Ser41Gly) NC_000017.11:75556090:A:G p.(Ser41Gly) NC_000017.11:75556090:A:G Identity +NM_001085384.3:c.764G>A NP_001078853.1:p.Ser255Asn NC_000019.10:57702184:C:T p.(Ser255Asn) NC_000019.10:57702184:C:T p.(Ser255Asn) NC_000019.10:57702184:C:T Identity +NM_001372233.1:c.1036G>A NP_001359162.1:p.Val346Met NC_000005.10:114362976:G:A p.(Val346Met) NC_000005.10:114362976:G:A p.(Val346Met) NC_000005.10:114362976:G:A Identity +NM_175053.4:c.508A>G NP_778223.2:p.Thr170Ala NC_000012.12:52572630:T:C p.(Thr170Ala) NC_000012.12:52572630:T:C p.(Thr170Ala) NC_000012.12:52572630:T:C Identity +NM_012345.3:c.1149C>G NP_036477.2:p.Ile383Met NC_000013.11:44943663:G:C p.(Ile383Met) NC_000013.11:44943663:G:C p.(Ile383Met) NC_000013.11:44943663:G:C Identity +NM_001190458.2:c.3329A>G NP_001177387.1:p.Lys1110Arg NC_000009.12:414879:A:G p.(Lys1110Arg) NC_000009.12:414879:A:G p.(Lys1110Arg) NC_000009.12:414879:A:G Identity +NM_001280558.2:c.1604G>A NP_001267487.1:p.Arg535Gln NC_000014.9:24077292:G:A p.(Arg535Gln) NC_000014.9:24077292:G:A p.(Arg535Gln) NC_000014.9:24077292:G:A Identity +NM_002178.3:c.215G>A NP_002169.1:p.Gly72Glu NC_000012.12:53097931:G:A p.(Gly72Glu) NC_000012.12:53097931:G:A p.(Gly72Glu) NC_000012.12:53097931:G:A Identity +NM_007147.4:c.544A>G NP_009078.1:p.Ile182Val NC_000019.10:51586874:A:G p.(Ile182Val) NC_000019.10:51586874:A:G p.(Ile182Val) NC_000019.10:51586874:A:G Identity +NM_001369.3:c.7207C>A NP_001360.1:p.Leu2403Ile NC_000005.10:13814627:G:T p.(Leu2403Ile) NC_000005.10:13814627:G:T p.(Leu2403Ile) NC_000005.10:13814627:G:T Identity +NM_001136230.3:c.440T>A NP_001129702.1:p.Ile147Asn NC_000004.12:87315501:A:T p.(Ile147Asn) NC_000004.12:87315501:A:T p.(Ile147Asn) NC_000004.12:87315501:A:T Identity +NM_000418.4:c.1119G>C NP_000409.1:p.Glu373Asp NC_000016.10:27362470:G:C p.(Glu373Asp) NC_000016.10:27362470:G:C p.(Glu373Asp) NC_000016.10:27362470:G:C Identity +NM_001375816.1:c.3215A>G NP_001362745.1:p.Lys1072Arg NC_000004.12:10443113:T:C p.(Lys1072Arg) NC_000004.12:10443113:T:C p.(Lys1072Arg) NC_000004.12:10443113:T:C Identity +NM_001001484.3:c.892G>A NP_001001484.1:p.Asp298Asn NC_000010.11:16511097:G:A p.(Asp298Asn) NC_000010.11:16511097:G:A p.(Asp298Asn) NC_000010.11:16511097:G:A Identity +NM_001410965.1:c.3020C>T NP_001397894.1:p.Pro1007Leu NC_000011.10:33609896:C:T p.(Pro1007Leu) NC_000011.10:33609896:C:T p.(Pro1007Leu) NC_000011.10:33609896:C:T Identity +NM_001300751.2:c.64G>A NP_001287680.1:p.Glu22Lys NC_000012.12:49110491:C:T p.(Glu22Lys) NC_000012.12:49110491:C:T p.(Glu22Lys) NC_000012.12:49110491:C:T Identity +NM_001005479.2:c.240G>T NP_001005479.2:p.Lys80Asn NC_000003.12:98264571:G:T p.(Lys80Asn) NC_000003.12:98264571:G:T p.(Lys80Asn) NC_000003.12:98264571:G:T Identity +NM_001130964.2:c.1879G>A NP_001124436.1:p.Ala627Thr NC_000003.12:38008543:C:T p.(Ala627Thr) NC_000003.12:38008543:C:T p.(Ala627Thr) NC_000003.12:38008543:C:T Identity +NM_173351.2:c.856A>G NP_775486.1:p.Asn286Asp NC_000002.12:240045216:T:C p.(Asn286Asp) NC_000002.12:240045216:T:C p.(Asn286Asp) NC_000002.12:240045216:T:C Identity +NM_001001522.2:c.70G>A NP_001001522.1:p.Glu24Lys NC_000011.10:117203082:G:A p.(Glu24Lys) NC_000011.10:117203082:G:A p.(Glu24Lys) NC_000011.10:117203082:G:A Identity +NM_019851.3:c.469A>G NP_062825.1:p.Lys157Glu NC_000008.11:16993238:T:C p.(Lys157Glu) NC_000008.11:16993238:T:C p.(Lys157Glu) NC_000008.11:16993238:T:C Identity +NM_015909.4:c.1723T>A NP_056993.2:p.Leu575Met NC_000002.12:15473223:A:T p.(Leu575Met) NC_000002.12:15473223:A:T p.(Leu575Met) NC_000002.12:15473223:A:T Identity +NM_001282426.2:c.103A>G NP_001269355.1:p.Met35Val NC_000007.14:106867663:A:G p.(Met35Val) NC_000007.14:106867663:A:G p.(Met35Val) NC_000007.14:106867663:A:G Identity +NM_013353.3:c.339G>T NP_037485.2:p.Glu113Asp NC_000001.11:151173556:C:A p.(Glu113Asp) NC_000001.11:151173556:C:A p.(Glu113Asp) NC_000001.11:151173556:C:A Identity +NM_001100412.2:c.398C>T NP_001093882.1:p.Pro133Leu NC_000005.10:31526534:G:A p.(Pro133Leu) NC_000005.10:31526534:G:A p.(Pro133Leu) NC_000005.10:31526534:G:A Identity +NM_022478.4:c.1805C>T NP_071923.2:p.Pro602Leu NC_000014.9:23049181:G:A p.(Pro602Leu) NC_000014.9:23049181:G:A p.(Pro602Leu) NC_000014.9:23049181:G:A Identity +NM_001010987.2:c.921C>G NP_001010987.1:p.Asn307Lys NC_000010.11:89384233:C:G p.(Asn307Lys) NC_000010.11:89384233:C:G p.(Asn307Lys) NC_000010.11:89384233:C:G Identity +NM_014810.5:c.2705C>T NP_055625.4:p.Ser902Phe NC_000001.11:180020478:C:T p.(Ser902Phe) NC_000001.11:180020478:C:T p.(Ser902Phe) NC_000001.11:180020478:C:T Identity +NM_001278439.2:c.881C>A NP_001265368.1:p.Pro294His NC_000019.10:45064172:C:A p.(Pro294His) NC_000019.10:45064172:C:A p.(Pro294His) NC_000019.10:45064172:C:A Identity +NM_001315529.2:c.3607G>A NP_001302458.1:p.Ala1203Thr NC_000021.9:46390789:G:A p.(Ala1203Thr) NC_000021.9:46390789:G:A p.(Ala1203Thr) NC_000021.9:46390789:G:A Identity +NM_001350319.2:c.794G>A NP_001337248.1:p.Arg265His NC_000017.11:41938724:G:A p.(Arg265His) NC_000017.11:41938724:G:A p.(Arg265His) NC_000017.11:41938724:G:A Identity +NM_001205263.2:c.1589T>G NP_001192192.1:p.Phe530Cys NC_000008.11:94380250:A:C p.(Phe530Cys) NC_000008.11:94380250:A:C p.(Phe530Cys) NC_000008.11:94380250:A:C Identity +NM_001042784.1:c.100A>G NP_001036249.1:p.Ile34Val NC_000004.12:76396456:T:C p.(Ile34Val) NC_000004.12:76396456:T:C p.(Ile34Val) NC_000004.12:76396456:T:C Identity +NM_001318163.1:c.383G>C NP_001305092.1:p.Gly128Ala NC_000007.14:105508129:C:G p.(Gly128Ala) NC_000007.14:105508129:C:G p.(Gly128Ala) NC_000007.14:105508129:C:G Identity +NM_002616.3:c.3326G>C NP_002607.2:p.Gly1109Ala NC_000017.11:8142391:C:G p.(Gly1109Ala) NC_000017.11:8142391:C:G p.(Gly1109Ala) NC_000017.11:8142391:C:G Identity +NM_001317184.2:c.2206T>G NP_001304113.1:p.Tyr736Asp NC_000016.10:68829746:T:G p.(Tyr736Asp) NC_000016.10:68829746:T:G p.(Tyr736Asp) NC_000016.10:68829746:T:G Identity +NM_001012393.5:c.789G>A NP_001012393.1:p.Met263Ile NC_000011.10:132436212:C:T p.(Met263Ile) NC_000011.10:132436212:C:T p.(Met263Ile) NC_000011.10:132436212:C:T Identity +NM_001353345.2:c.1160C>T NP_001340274.1:p.Ala387Val NC_000012.12:121810104:C:T p.(Ala387Val) NC_000012.12:121810104:C:T p.(Ala387Val) NC_000012.12:121810104:C:T Identity +NM_173611.4:c.782C>T NP_775882.2:p.Ser261Leu NC_000015.10:38481343:C:T p.(Ser261Leu) NC_000015.10:38481343:C:T p.(Ser261Leu) NC_000015.10:38481343:C:T Identity +NM_001321120.2:c.1558T>A NP_001308049.1:p.Ser520Thr NC_000017.11:61483432:T:A p.(Ser520Thr) NC_000017.11:61483432:T:A p.(Ser520Thr) NC_000017.11:61483432:T:A Identity +NM_007156.5:c.710C>T NP_009087.1:p.Pro237Leu NC_000023.11:57909710:G:A p.(Pro237Leu) NC_000023.11:57909710:G:A p.(Pro237Leu) NC_000023.11:57909710:G:A Identity +NM_001085458.2:c.407G>A NP_001078927.1:p.Arg136His NC_000011.10:57795715:G:A p.(Arg136His) NC_000011.10:57795715:G:A p.(Arg136His) NC_000011.10:57795715:G:A Identity +NM_001290263.2:c.4984A>T NP_001277192.1:p.Thr1662Ser NC_000002.12:224795030:T:A p.(Thr1662Ser) NC_000002.12:224795030:T:A p.(Thr1662Ser) NC_000002.12:224795030:T:A Identity +NM_001349178.2:c.14C>T NP_001336107.1:p.Ala5Val NC_000003.12:38346881:C:T p.(Ala5Val) NC_000003.12:38346881:C:T p.(Ala5Val) NC_000003.12:38346881:C:T Identity +NM_001141973.3:c.2951G>A NP_001135445.1:p.Arg984Gln NC_000001.11:16987162:C:T p.(Arg984Gln) NC_000001.11:16987162:C:T p.(Arg984Gln) NC_000001.11:16987162:C:T Identity +NM_001042467.3:c.890T>C NP_001035932.1:p.Val297Ala NC_000002.12:237527385:T:C p.(Val297Ala) NC_000002.12:237527385:T:C p.(Val297Ala) NC_000002.12:237527385:T:C Identity +NM_001394547.1:c.5462A>C NP_001381476.1:p.Glu1821Ala NC_000015.10:62776857:A:C p.(Glu1821Ala) NC_000015.10:62776857:A:C p.(Glu1821Ala) NC_000015.10:62776857:A:C Identity +NM_001079846.1:c.395G>C NP_001073315.1:p.Ser132Thr NC_000016.10:3850699:C:G p.(Ser132Thr) NC_000016.10:3850699:C:G p.(Ser132Thr) NC_000016.10:3850699:C:G Identity +NM_006255.5:c.1402A>G NP_006246.2:p.Met468Val NC_000014.9:61485624:A:G p.(Met468Val) NC_000014.9:61485624:A:G p.(Met468Val) NC_000014.9:61485624:A:G Identity +NM_001378213.1:c.4255G>A NP_001365142.1:p.Gly1419Arg NC_000011.10:118898659:C:T p.(Gly1419Arg) NC_000011.10:118898659:C:T p.(Gly1419Arg) NC_000011.10:118898659:C:T Identity +NM_001369751.1:c.316G>A NP_001356680.1:p.Ala106Thr NC_000019.10:45687563:C:T p.(Ala106Thr) NC_000019.10:45687563:C:T p.(Ala106Thr) NC_000019.10:45687563:C:T Identity +NM_153456.4:c.125G>T NP_703157.2:p.Arg42Leu NC_000013.11:96090986:G:T p.(Arg42Leu) NC_000013.11:96090986:G:T p.(Arg42Leu) NC_000013.11:96090986:G:T Identity +NM_080658.2:c.585G>A NP_542389.1:p.Met195Ile NC_000011.10:67645093:C:T p.(Met195Ile) NC_000011.10:67645093:C:T p.(Met195Ile) NC_000011.10:67645093:C:T Identity +NM_001276270.2:c.1424T>A NP_001263199.1:p.Phe475Tyr NC_000003.12:129433216:A:T p.(Phe475Tyr) NC_000003.12:129433216:A:T p.(Phe475Tyr) NC_000003.12:129433216:A:T Identity +NM_001256171.2:c.952T>A NP_001243100.1:p.Cys318Ser NC_000019.10:20949375:T:A p.(Cys318Ser) NC_000019.10:20949375:T:A p.(Cys318Ser) NC_000019.10:20949375:T:A Identity +NM_001114121.2:c.860C>T NP_001107593.1:p.Pro287Leu NC_000011.10:125643836:C:T p.(Pro287Leu) NC_000011.10:125643836:C:T p.(Pro287Leu) NC_000011.10:125643836:C:T Identity +NM_001207020.3:c.785T>C NP_001193949.1:p.Phe262Ser NC_000022.11:41910433:A:G p.(Phe262Ser) NC_000022.11:41910433:A:G p.(Phe262Ser) NC_000022.11:41910433:A:G Identity +NM_000600.5:c.168A>C NP_000591.1:p.Gln56His NC_000007.14:22727591:A:C p.(Gln56His) NC_000007.14:22727591:A:C p.(Gln56His) NC_000007.14:22727591:A:C Identity +NM_000782.5:c.581G>A NP_000773.2:p.Cys194Tyr NC_000020.11:54169650:C:T p.(Cys194Tyr) NC_000020.11:54169650:C:T p.(Cys194Tyr) NC_000020.11:54169650:C:T Identity +NM_001001891.3:c.1513G>C NP_001001891.2:p.Val505Leu NC_000002.12:241209626:G:C ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found +NM_001387778.1:c.734G>A NP_001374707.1:p.Gly245Glu NC_000008.11:79919031:C:T p.(Gly245Glu) NC_000008.11:79919031:C:T p.(Gly245Glu) NC_000008.11:79919031:C:T Identity +NM_004823.3:c.539T>C NP_004814.1:p.Val180Ala NC_000019.10:38326808:T:C p.(Val180Ala) NC_000019.10:38326808:T:C p.(Val180Ala) NC_000019.10:38326808:T:C Identity +NM_001321851.1:c.919A>G NP_001308780.1:p.Met307Val NC_000014.9:92014478:T:C p.(Met307Val) NC_000014.9:92014478:T:C p.(Met307Val) NC_000014.9:92014478:T:C Identity +NM_002165.4:c.15T>G NP_002156.2:p.Ser5Arg NC_000020.11:31605401:T:G p.(Ser5Arg) NC_000020.11:31605401:T:G p.(Ser5Arg) NC_000020.11:31605401:T:G Identity +NM_020846.2:c.560A>G NP_065897.1:p.Tyr187Cys NC_000004.12:48377916:A:G p.(Tyr187Cys) NC_000004.12:48377916:A:G p.(Tyr187Cys) NC_000004.12:48377916:A:G Identity +NM_001122965.1:c.1325C>T NP_001116437.1:p.Pro442Leu NC_000001.11:152155773:G:A p.(Pro442Leu) NC_000001.11:152155773:G:A p.(Pro442Leu) NC_000001.11:152155773:G:A Identity +NM_001244871.2:c.451A>T NP_001231800.1:p.Thr151Ser NC_000005.10:39390454:T:A p.(Thr151Ser) NC_000005.10:39390454:T:A p.(Thr151Ser) NC_000005.10:39390454:T:A Identity +NM_001286581.2:c.1139G>A NP_001273510.1:p.Gly380Glu NC_000011.10:601687:G:A p.(Gly380Glu) NC_000011.10:601687:G:A p.(Gly380Glu) NC_000011.10:601687:G:A Identity +NM_001039141.3:c.5722A>G NP_001034230.1:p.Ser1908Gly NC_000022.11:37757646:A:G p.(Ser1908Gly) NC_000022.11:37757646:A:G p.(Ser1908Gly) NC_000022.11:37757646:A:G Identity +NM_001114.5:c.2549A>G NP_001105.1:p.Glu850Gly NC_000016.10:50312135:A:G p.(Glu850Gly) NC_000016.10:50312135:A:G p.(Glu850Gly) NC_000016.10:50312135:A:G Identity +NM_001017420.3:c.838A>G NP_001017420.1:p.Lys280Glu NC_000008.11:27777145:A:G p.(Lys280Glu) NC_000008.11:27777145:A:G p.(Lys280Glu) NC_000008.11:27777145:A:G Identity +NM_014981.3:c.5412C>G NP_055796.2:p.Ile1804Met NC_000003.12:108391777:G:C p.(Ile1804Met) NC_000003.12:108391777:G:C p.(Ile1804Met) NC_000003.12:108391777:G:C Identity +NM_000298.6:c.1234A>T NP_000289.1:p.Asn412Tyr NC_000001.11:155293472:T:A p.(Asn412Tyr) NC_000001.11:155293472:T:A p.(Asn412Tyr) NC_000001.11:155293472:T:A Identity +NM_001410864.1:c.3565C>T NP_001397793.1:p.Arg1189Trp NC_000004.12:183312448:C:T p.(Arg1189Trp) NC_000004.12:183312448:C:T p.(Arg1189Trp) NC_000004.12:183312448:C:T Identity +NM_016578.4:c.3188T>C NP_057662.3:p.Ile1063Thr NC_000011.10:77676944:A:G p.(Ile1063Thr) NC_000011.10:77676944:A:G p.(Ile1063Thr) NC_000011.10:77676944:A:G Identity +NM_001193286.2:c.59G>A NP_001180215.1:p.Arg20His NC_000019.10:38893469:C:T p.(Arg20His) NC_000019.10:38893469:C:T p.(Arg20His) NC_000019.10:38893469:C:T Identity +NM_001377236.1:c.311T>C NP_001364165.1:p.Leu104Pro NC_000005.10:376675:T:C p.(Leu104Pro) NC_000005.10:376675:T:C p.(Leu104Pro) NC_000005.10:376675:T:C Identity +NM_138697.4:c.1529C>T NP_619642.2:p.Thr510Met NC_000001.11:6577004:C:T p.(Thr510Met) NC_000001.11:6577004:C:T p.(Thr510Met) NC_000001.11:6577004:C:T Identity +NM_001079673.2:c.1006G>A NP_001073141.1:p.Asp336Asn NC_000013.11:49167271:G:A p.(Asp336Asn) NC_000013.11:49167271:G:A p.(Asp336Asn) NC_000013.11:49167271:G:A Identity +NM_001204835.3:c.419C>G NP_001191764.1:p.Ser140Cys NC_000019.10:36949574:C:G p.(Ser140Cys) NC_000019.10:36949574:C:G p.(Ser140Cys) NC_000019.10:36949574:C:G Identity +NM_013300.3:c.395G>A NP_037432.2:p.Arg132Lys NC_000012.12:110486412:G:A p.(Arg132Lys) NC_000012.12:110486412:G:A p.(Arg132Lys) NC_000012.12:110486412:G:A Identity +NM_001207005.2:c.1118G>A NP_001193934.1:p.Gly373Asp NC_000019.10:44273777:G:A p.(Gly373Asp) NC_000019.10:44273777:G:A p.(Gly373Asp) NC_000019.10:44273777:G:A Identity +NM_001436.4:c.593G>A NP_001427.2:p.Arg198His NC_000019.10:39837799:C:T p.(Arg198His) NC_000019.10:39837799:C:T p.(Arg198His) NC_000019.10:39837799:C:T Identity +NM_018143.3:c.97T>G NP_060613.1:p.Ser33Ala NC_000017.11:41865273:A:C p.(Ser33Ala) NC_000017.11:41865273:A:C p.(Ser33Ala) NC_000017.11:41865273:A:C Identity +NM_032139.3:c.1664C>T NP_115515.2:p.Ser555Leu NC_000019.10:32622584:G:A p.(Ser555Leu) NC_000019.10:32622584:G:A p.(Ser555Leu) NC_000019.10:32622584:G:A Identity +NM_018902.5:c.1844G>A NP_061725.1:p.Gly615Asp NC_000005.10:140870946:G:A p.(Gly615Asp) NC_000005.10:140870946:G:A p.(Gly615Asp) NC_000005.10:140870946:G:A Identity +NM_001199687.3:c.478C>T NP_001186616.2:p.Leu160Phe NC_000023.11:66602671:G:A p.(Leu160Phe) NC_000023.11:66602671:G:A p.(Leu160Phe) NC_000023.11:66602671:G:A Identity +NM_173489.5:c.824C>A NP_775760.3:p.Ser275Tyr NC_000005.10:41057292:G:T p.(Ser275Tyr) NC_000005.10:41057292:G:T p.(Ser275Tyr) NC_000005.10:41057292:G:T Identity +NM_001297734.2:c.1111C>T NP_001284663.1:p.Arg371Cys NC_000019.10:57909163:G:A p.(Arg371Cys) NC_000019.10:57909163:G:A p.(Arg371Cys) NC_000019.10:57909163:G:A Identity +NM_001098623.2:c.17799G>T NP_001092093.2:p.Lys5933Asn NC_000001.11:228341195:G:T p.(Lys5933Asn) NC_000001.11:228341195:G:T p.(Lys5933Asn) NC_000001.11:228341195:G:T Identity +NM_080868.3:c.763G>A NP_543144.1:p.Glu255Lys NC_000001.11:75919076:C:T p.(Glu255Lys) NC_000001.11:75919076:C:T p.(Glu255Lys) NC_000001.11:75919076:C:T Identity +NM_020765.3:c.13970T>G NP_065816.2:p.Val4657Gly NC_000001.11:19093453:A:C p.(Val4657Gly) NC_000001.11:19093453:A:C p.(Val4657Gly) NC_000001.11:19093453:A:C Identity +NM_001256067.2:c.1282G>A NP_001242996.1:p.Val428Ile NC_000009.12:137434066:G:A p.(Val428Ile) NC_000009.12:137434066:G:A p.(Val428Ile) NC_000009.12:137434066:G:A Identity +NM_002559.5:c.706G>A NP_002550.2:p.Gly236Arg NC_000011.10:57350761:G:A p.(Gly236Arg) NC_000011.10:57350761:G:A p.(Gly236Arg) NC_000011.10:57350761:G:A Identity +NM_001166139.2:c.582A>C NP_001159611.1:p.Lys194Asn NC_000004.12:17909193:T:G p.(Lys194Asn) NC_000004.12:17909193:T:G p.(Lys194Asn) NC_000004.12:17909193:T:G Identity +NM_016113.5:c.1540A>G NP_057197.2:p.Thr514Ala NC_000017.11:16428934:A:G p.(Thr514Ala) NC_000017.11:16428934:A:G p.(Thr514Ala) NC_000017.11:16428934:A:G Identity +NM_015547.4:c.591C>G NP_056362.1:p.Asn197Lys NC_000001.11:54594674:C:G p.(Asn197Lys) NC_000001.11:54594674:C:G p.(Asn197Lys) NC_000001.11:54594674:C:G Identity +NM_001127708.3:c.1427C>T NP_001121180.2:p.Thr476Ile NC_000001.11:186307268:C:T p.(Thr476Ile) NC_000001.11:186307268:C:T p.(Thr476Ile) NC_000001.11:186307268:C:T Identity +NM_001004746.4:c.149A>T NP_001004746.2:p.Asp50Val NC_000011.10:56232913:T:A p.(Asp50Val) NC_000011.10:56232913:T:A p.(Asp50Val) NC_000011.10:56232913:T:A Identity +NM_001304482.2:c.2984C>T NP_001291411.1:p.Ser995Phe NC_000003.12:47411159:C:T p.(Ser995Phe) NC_000003.12:47411159:C:T p.(Ser995Phe) NC_000003.12:47411159:C:T Identity +NM_001398481.1:c.1490T>C NP_001385410.1:p.Met497Thr NC_000017.11:55081177:T:C p.(Met497Thr) NC_000017.11:55081177:T:C p.(Met497Thr) NC_000017.11:55081177:T:C Identity +NM_000684.3:c.931C>A NP_000675.1:p.Pro311Thr NC_000010.11:114045062:C:A p.(Pro311Thr) NC_000010.11:114045062:C:A p.(Pro311Thr) NC_000010.11:114045062:C:A Identity +NM_014808.4:c.2854G>A NP_055623.1:p.Val952Ile NC_000002.12:241492994:G:A p.(Val952Ile) NC_000002.12:241492994:G:A p.(Val952Ile) NC_000002.12:241492994:G:A Identity +NM_006355.5:c.602T>C NP_006346.1:p.Leu201Pro NC_000006.12:25971962:T:C p.(Leu201Pro) NC_000006.12:25971962:T:C p.(Leu201Pro) NC_000006.12:25971962:T:C Identity +NM_001278352.2:c.806G>T NP_001265281.1:p.Arg269Leu NC_000009.12:32420862:G:T p.(Arg269Leu) NC_000009.12:32420862:G:T p.(Arg269Leu) NC_000009.12:32420862:G:T Identity +NM_152635.3:c.262C>A NP_689848.1:p.Leu88Ile NC_000010.11:72898863:C:A p.(Leu88Ile) NC_000010.11:72898863:C:A p.(Leu88Ile) NC_000010.11:72898863:C:A Identity +NM_001271816.2:c.532G>A NP_001258745.1:p.Ala178Thr NC_000010.11:113850572:C:T p.(Ala178Thr) NC_000010.11:113850572:C:T p.(Ala178Thr) NC_000010.11:113850572:C:T Identity +NM_001414174.1:c.683C>T NP_001401103.1:p.Ser228Phe NC_000012.12:26715776:G:A p.(Ser228Phe) NC_000012.12:26715776:G:A p.(Ser228Phe) NC_000012.12:26715776:G:A Identity +NM_001346880.2:c.1342A>G NP_001333809.1:p.Lys448Glu NC_000002.12:24024122:A:G p.(Lys448Glu) NC_000002.12:24024122:A:G p.(Lys448Glu) NC_000002.12:24024122:A:G Identity +NM_031231.4:c.89C>T NP_112508.3:p.Ala30Val NC_000020.11:33674263:G:A p.(Ala30Val) NC_000020.11:33674263:G:A p.(Ala30Val) NC_000020.11:33674263:G:A Identity +NM_001039469.3:c.1567T>A NP_001034558.2:p.Ser523Thr NC_000011.10:63904037:T:A p.(Ser523Thr) NC_000011.10:63904037:T:A p.(Ser523Thr) NC_000011.10:63904037:T:A Identity +NM_001388453.1:c.4540A>T NP_001375382.1:p.Met1514Leu NC_000017.11:76280372:T:A p.(Met1514Leu) NC_000017.11:76280372:T:A p.(Met1514Leu) NC_000017.11:76280372:T:A Identity +NM_017957.3:c.23G>A NP_060427.2:p.Arg8His NC_000017.11:50536578:G:A p.(Arg8His) NC_000017.11:50536578:G:A p.(Arg8His) NC_000017.11:50536578:G:A Identity +NM_014203.3:c.1220C>T NP_055018.2:p.Ser407Leu NC_000019.10:49799713:C:T p.(Ser407Leu) NC_000019.10:49799713:C:T p.(Ser407Leu) NC_000019.10:49799713:C:T Identity +NM_001007155.1:c.2338G>A NP_001007156.1:p.Val780Ile NC_000015.10:87877074:C:T ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007155.1, alt_ac=NM_001007155.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007155.1 not found +NM_001318226.2:c.2908C>A NP_001305155.1:p.Gln970Lys NC_000020.11:25455674:G:T p.(Gln970Lys) NC_000020.11:25455674:G:T p.(Gln970Lys) NC_000020.11:25455674:G:T Identity +NM_001277115.2:c.13537C>A NP_001264044.1:p.Leu4513Ile NC_000007.14:21901239:C:A p.(Leu4513Ile) NC_000007.14:21901239:C:A p.(Leu4513Ile) NC_000007.14:21901239:C:A Identity +NM_001184.4:c.130A>C NP_001175.2:p.Ile44Leu NC_000003.12:142568083:T:G p.(Ile44Leu) NC_000003.12:142568083:T:G p.(Ile44Leu) NC_000003.12:142568083:T:G Identity +NM_000368.5:c.367G>A NP_000359.1:p.Asp123Asn NC_000009.12:132923488:C:T p.(Asp123Asn) NC_000009.12:132923488:C:T p.(Asp123Asn) NC_000009.12:132923488:C:T Identity +NM_001193304.3:c.143T>A NP_001180233.1:p.Leu48His NC_000002.12:96265238:A:T p.(Leu48His) NC_000002.12:96265238:A:T p.(Leu48His) NC_000002.12:96265238:A:T Identity +NM_001166108.2:c.1333A>G NP_001159580.1:p.Lys445Glu NC_000004.12:168685556:A:G p.(Lys445Glu) NC_000004.12:168685556:A:G p.(Lys445Glu) NC_000004.12:168685556:A:G Identity +NM_001040108.2:c.2528T>C NP_001035197.1:p.Met843Thr NC_000014.9:75047127:A:G p.(Met843Thr) NC_000014.9:75047127:A:G p.(Met843Thr) NC_000014.9:75047127:A:G Identity +NM_001040108.2:c.3970A>C NP_001035197.1:p.Thr1324Pro NC_000014.9:75030559:T:G p.(Thr1324Pro) NC_000014.9:75030559:T:G p.(Thr1324Pro) NC_000014.9:75030559:T:G Identity +NM_001365951.3:c.3260A>G NP_001352880.1:p.Asp1087Gly NC_000001.11:10337370:A:G p.(Asp1087Gly) NC_000001.11:10337370:A:G p.(Asp1087Gly) NC_000001.11:10337370:A:G Identity +NM_001293306.2:c.238G>T NP_001280235.2:p.Glu80Ter NC_000003.12:38793772:C:A p.(Glu80Ter) NC_000003.12:38793772:C:A p.(Glu80Ter) NC_000003.12:38793772:C:A Identity +NM_001430.5:c.1442C>T NP_001421.2:p.Thr481Met NC_000002.12:46378085:C:T p.(Thr481Met) NC_000002.12:46378085:C:T p.(Thr481Met) NC_000002.12:46378085:C:T Identity +NM_001005407.2:c.3281T>C NP_001005407.1:p.Leu1094Pro NC_000016.10:1208138:T:C p.(Leu1094Pro) NC_000016.10:1208138:T:C p.(Leu1094Pro) NC_000016.10:1208138:T:C Identity +NM_000701.8:c.1450T>C NP_000692.2:p.Ser484Pro NC_000001.11:116392970:T:C p.(Ser484Pro) NC_000001.11:116392970:T:C p.(Ser484Pro) NC_000001.11:116392970:T:C Identity +NM_001394998.1:c.4781A>G NP_001381927.1:p.Gln1594Arg NC_000017.11:63420510:A:G p.(Gln1594Arg) NC_000017.11:63420510:A:G p.(Gln1594Arg) NC_000017.11:63420510:A:G Identity +NM_003791.4:c.1298A>G NP_003782.1:p.Lys433Arg NC_000016.10:84081896:T:C p.(Lys433Arg) NC_000016.10:84081896:T:C p.(Lys433Arg) NC_000016.10:84081896:T:C Identity +NM_001329630.2:c.1712C>T NP_001316559.1:p.Ser571Leu NC_000011.10:16816953:G:A p.(Ser571Leu) NC_000011.10:16816953:G:A p.(Ser571Leu) NC_000011.10:16816953:G:A Identity +NM_001029884.3:c.4149C>G NP_001025055.1:p.Ser1383Arg NC_000006.12:150840886:C:G p.(Ser1383Arg) NC_000006.12:150840886:C:G p.(Ser1383Arg) NC_000006.12:150840886:C:G Identity +NM_001242385.2:c.1715G>A NP_001229314.1:p.Arg572Lys NC_000006.12:10764488:C:T p.(Arg572Lys) NC_000006.12:10764488:C:T p.(Arg572Lys) NC_000006.12:10764488:C:T Identity +NM_020950.2:c.3443T>G NP_066001.1:p.Val1148Gly NC_000001.11:180945457:T:G p.(Val1148Gly) NC_000001.11:180945457:T:G p.(Val1148Gly) NC_000001.11:180945457:T:G Identity +NM_005778.4:c.190C>T NP_005769.1:p.Arg64Cys NC_000003.12:50093725:C:T p.(Arg64Cys) NC_000003.12:50093725:C:T p.(Arg64Cys) NC_000003.12:50093725:C:T Identity +NM_001005850.3:c.883C>A NP_001005850.2:p.Gln295Lys NC_000019.10:56664315:G:T p.(Gln295Lys) NC_000019.10:56664315:G:T p.(Gln295Lys) NC_000019.10:56664315:G:T Identity +NM_152547.5:c.1178G>A NP_689760.2:p.Arg393His NC_000005.10:181059431:G:A p.(Arg393His) NC_000005.10:181059431:G:A p.(Arg393His) NC_000005.10:181059431:G:A Identity +NM_001381853.1:c.1408T>A NP_001368782.1:p.Leu470Ile NC_000001.11:241634358:A:T p.(Leu470Ile) NC_000001.11:241634358:A:T p.(Leu470Ile) NC_000001.11:241634358:A:T Identity +NM_031935.3:c.9293G>A NP_114141.2:p.Arg3098Gln NC_000001.11:186087574:G:A p.(Arg3098Gln) NC_000001.11:186087574:G:A p.(Arg3098Gln) NC_000001.11:186087574:G:A Identity +NM_001253875.2:c.184G>C NP_001240804.1:p.Glu62Gln NC_000002.12:106164737:C:G p.(Glu62Gln) NC_000002.12:106164737:C:G p.(Glu62Gln) NC_000002.12:106164737:C:G Identity +NM_001002912.5:c.1253C>T NP_001002912.4:p.Thr418Ile NC_000001.11:74606836:G:A p.(Thr418Ile) NC_000001.11:74606836:G:A p.(Thr418Ile) NC_000001.11:74606836:G:A Identity +NM_182527.3:c.496G>A NP_872333.1:p.Glu166Lys NC_000022.11:29729183:G:A p.(Glu166Lys) NC_000022.11:29729183:G:A p.(Glu166Lys) NC_000022.11:29729183:G:A Identity +NM_016628.5:c.922T>A NP_057712.2:p.Ser308Thr NC_000010.11:28608187:T:A p.(Ser308Thr) NC_000010.11:28608187:T:A p.(Ser308Thr) NC_000010.11:28608187:T:A Identity +NM_003950.4:c.223G>A NP_003941.2:p.Val75Met NC_000019.10:16889685:G:A p.(Val75Met) NC_000019.10:16889685:G:A p.(Val75Met) NC_000019.10:16889685:G:A Identity +NM_001649.4:c.3464A>T NP_001640.1:p.Lys1155Met NC_000023.11:9932746:A:T p.(Lys1155Met) NC_000023.11:9932746:A:T p.(Lys1155Met) NC_000023.11:9932746:A:T Identity +NM_001377418.1:c.2399G>A NP_001364347.1:p.Arg800Gln NC_000001.11:156947383:C:T p.(Arg800Gln) NC_000001.11:156947383:C:T p.(Arg800Gln) NC_000001.11:156947383:C:T Identity +NM_001005408.2:c.755G>A NP_001005408.1:p.Arg252Gln NC_000017.11:7327202:C:T p.(Arg252Gln) NC_000017.11:7327202:C:T p.(Arg252Gln) NC_000017.11:7327202:C:T Identity +NM_000720.4:c.3788T>C NP_000711.1:p.Val1263Ala NC_000003.12:53753623:T:C p.(Val1263Ala) NC_000003.12:53753623:T:C p.(Val1263Ala) NC_000003.12:53753623:T:C Identity +NM_001040102.3:c.227A>G NP_001035191.1:p.Gln76Arg NC_000010.11:96346070:T:C p.(Gln76Arg) NC_000010.11:96346070:T:C p.(Gln76Arg) NC_000010.11:96346070:T:C Identity +NM_001303139.2:c.22A>G NP_001290068.1:p.Arg8Gly NC_000003.12:73404385:T:C p.(Arg8Gly) NC_000003.12:73404385:T:C p.(Arg8Gly) NC_000003.12:73404385:T:C Identity +NM_199285.3:c.746C>A NP_954979.2:p.Thr249Asn NC_000019.10:42310414:C:A p.(Thr249Asn) NC_000019.10:42310414:C:A p.(Thr249Asn) NC_000019.10:42310414:C:A Identity +NM_004118.4:c.469G>C NP_004109.1:p.Glu157Gln NC_000020.11:31845073:C:G p.(Glu157Gln) NC_000020.11:31845073:C:G p.(Glu157Gln) NC_000020.11:31845073:C:G Identity +NM_001346281.2:c.175C>G NP_001333210.1:p.His59Asp NC_000004.12:4471699:G:C p.(His59Asp) NC_000004.12:4471699:G:C p.(His59Asp) NC_000004.12:4471699:G:C Identity +NM_003192.3:c.316G>C NP_003183.2:p.Ala106Pro NC_000006.12:42745757:C:G p.(Ala106Pro) NC_000006.12:42745757:C:G p.(Ala106Pro) NC_000006.12:42745757:C:G Identity +NM_018982.5:c.317G>C NP_061855.1:p.Gly106Ala NC_000001.11:53878361:C:G p.(Gly106Ala) NC_000001.11:53878361:C:G p.(Gly106Ala) NC_000001.11:53878361:C:G Identity +NM_006767.4:c.242A>G NP_006758.2:p.Tyr81Cys NC_000022.11:20983067:A:G p.(Tyr81Cys) NC_000022.11:20983067:A:G p.(Tyr81Cys) NC_000022.11:20983067:A:G Identity +NM_006767.4:c.1027G>A NP_006758.2:p.Ala343Thr NC_000022.11:20992246:G:A p.(Ala343Thr) NC_000022.11:20992246:G:A p.(Ala343Thr) NC_000022.11:20992246:G:A Identity +NM_001256849.1:c.2999G>A NP_001243778.1:p.Gly1000Asp NC_000019.10:50416654:G:A p.(Gly1000Asp) NC_000019.10:50416654:G:A p.(Gly1000Asp) NC_000019.10:50416654:G:A Identity +NM_001290020.2:c.1669G>A NP_001276949.1:p.Glu557Lys NC_000010.11:27944295:C:T p.(Glu557Lys) NC_000010.11:27944295:C:T p.(Glu557Lys) NC_000010.11:27944295:C:T Identity +NM_000937.5:c.1657G>A NP_000928.1:p.Val553Ile NC_000017.11:7499476:G:A p.(Val553Ile) NC_000017.11:7499476:G:A p.(Val553Ile) NC_000017.11:7499476:G:A Identity +NM_004446.3:c.2611G>A NP_004437.2:p.Glu871Lys NC_000001.11:219988753:C:T p.(Glu871Lys) NC_000001.11:219988753:C:T p.(Glu871Lys) NC_000001.11:219988753:C:T Identity +NM_001040108.2:c.202A>G NP_001035197.1:p.Lys68Glu NC_000014.9:75049453:T:C p.(Lys68Glu) NC_000014.9:75049453:T:C p.(Lys68Glu) NC_000014.9:75049453:T:C Identity +NM_199420.4:c.5894A>G NP_955452.3:p.Tyr1965Cys NC_000003.12:121483461:T:C p.(Tyr1965Cys) NC_000003.12:121483461:T:C p.(Tyr1965Cys) NC_000003.12:121483461:T:C Identity +NM_001365951.3:c.3569T>C NP_001352880.1:p.Val1190Ala NC_000001.11:10342104:T:C p.(Val1190Ala) NC_000001.11:10342104:T:C p.(Val1190Ala) NC_000001.11:10342104:T:C Identity +NM_199420.4:c.5257C>T NP_955452.3:p.Leu1753Phe NC_000003.12:121487673:G:A p.(Leu1753Phe) NC_000003.12:121487673:G:A p.(Leu1753Phe) NC_000003.12:121487673:G:A Identity +NM_199420.4:c.5453C>T NP_955452.3:p.Ala1818Val NC_000003.12:121487477:G:A p.(Ala1818Val) NC_000003.12:121487477:G:A p.(Ala1818Val) NC_000003.12:121487477:G:A Identity +NM_017434.5:c.1774G>A NP_059130.2:p.Gly592Arg NC_000015.10:45142063:G:A p.(Gly592Arg) NC_000015.10:45142063:G:A p.(Gly592Arg) NC_000015.10:45142063:G:A Identity +NM_001281736.2:c.232A>G NP_001268665.1:p.Thr78Ala NC_000023.11:130688883:T:C p.(Thr78Ala) NC_000023.11:130688883:T:C p.(Thr78Ala) NC_000023.11:130688883:T:C Identity +NM_001012981.5:c.1831G>T NP_001012999.3:p.Val611Phe NC_000016.10:25243934:C:A p.(Val611Phe) NC_000016.10:25243934:C:A p.(Val611Phe) NC_000016.10:25243934:C:A Identity +NM_001098623.2:c.9418C>T NP_001092093.2:p.Arg3140Trp NC_000001.11:228286912:C:T p.(Arg3140Trp) NC_000001.11:228286912:C:T p.(Arg3140Trp) NC_000001.11:228286912:C:T Identity +NM_032532.3:c.2683C>T NP_115921.2:p.Pro895Ser NC_000006.12:159233194:C:T p.(Pro895Ser) NC_000006.12:159233194:C:T p.(Pro895Ser) NC_000006.12:159233194:C:T Identity +NM_015906.4:c.2342C>G NP_056990.3:p.Thr781Ser NC_000001.11:114407016:G:C p.(Thr781Ser) NC_000001.11:114407016:G:C p.(Thr781Ser) NC_000001.11:114407016:G:C Identity +NM_001003954.3:c.704A>G NP_001003954.1:p.Asn235Ser NC_000008.11:123693257:T:C p.(Asn235Ser) NC_000008.11:123693257:T:C p.(Asn235Ser) NC_000008.11:123693257:T:C Identity +NM_001377260.1:c.250C>T NP_001364189.1:p.Pro84Ser NC_000001.11:231421638:G:A p.(Pro84Ser) NC_000001.11:231421638:G:A p.(Pro84Ser) NC_000001.11:231421638:G:A Identity +NM_001365820.1:c.29C>T NP_001352749.1:p.Thr10Met NC_000001.11:37946279:G:A p.(Thr10Met) NC_000001.11:37946279:G:A p.(Thr10Met) NC_000001.11:37946279:G:A Identity +NM_000489.6:c.26G>A NP_000480.3:p.Ser9Asn NC_000023.11:77717237:C:T p.(Ser9Asn) NC_000023.11:77717237:C:T p.(Ser9Asn) NC_000023.11:77717237:C:T Identity +NM_004855.5:c.322T>C NP_004846.4:p.Trp108Arg NC_000015.10:55321294:T:C p.(Trp108Arg) NC_000015.10:55321294:T:C p.(Trp108Arg) NC_000015.10:55321294:T:C Identity +NM_000445.5:c.4787C>T NP_000436.2:p.Thr1596Met NC_000008.11:143925222:G:A p.(Thr1596Met) NC_000008.11:143925222:G:A p.(Thr1596Met) NC_000008.11:143925222:G:A Identity +NM_001353766.3:c.2695G>A NP_001340695.1:p.Val899Ile NC_000003.12:113965231:C:T p.(Val899Ile) NC_000003.12:113965231:C:T p.(Val899Ile) NC_000003.12:113965231:C:T Identity +NM_001005226.2:c.107C>A NP_001005226.1:p.Thr36Lys NC_000006.12:29087141:G:T p.(Thr36Lys) NC_000006.12:29087141:G:T p.(Thr36Lys) NC_000006.12:29087141:G:T Identity +NM_031935.3:c.15766G>A NP_114141.2:p.Asp5256Asn NC_000001.11:186172082:G:A p.(Asp5256Asn) NC_000001.11:186172082:G:A p.(Asp5256Asn) NC_000001.11:186172082:G:A Identity +NM_018994.3:c.1613A>G NP_061867.1:p.His538Arg NC_000001.11:16251210:T:C p.(His538Arg) NC_000001.11:16251210:T:C p.(His538Arg) NC_000001.11:16251210:T:C Identity +NM_001146197.3:c.2888T>C NP_001139669.1:p.Leu963Pro NC_000013.11:102747808:A:G p.(Leu963Pro) NC_000013.11:102747808:A:G p.(Leu963Pro) NC_000013.11:102747808:A:G Identity +NM_001211.6:c.1384G>C NP_001202.5:p.Glu462Gln NC_000015.10:40199709:G:C p.(Glu462Gln) NC_000015.10:40199709:G:C p.(Glu462Gln) NC_000015.10:40199709:G:C Identity +NM_003850.3:c.763A>G NP_003841.1:p.Ile255Val NC_000013.11:47968633:T:C p.(Ile255Val) NC_000013.11:47968633:T:C p.(Ile255Val) NC_000013.11:47968633:T:C Identity +NM_032119.4:c.10664C>T NP_115495.3:p.Thr3555Ile NC_000005.10:90745159:C:T p.(Thr3555Ile) NC_000005.10:90745159:C:T p.(Thr3555Ile) NC_000005.10:90745159:C:T Identity +NM_001291285.3:c.8963G>C NP_001278214.1:p.Ser2988Thr NC_000004.12:125449972:G:C p.(Ser2988Thr) NC_000004.12:125449972:G:C p.(Ser2988Thr) NC_000004.12:125449972:G:C Identity +NM_001346813.1:c.6625A>G NP_001333742.1:p.Met2209Val NC_000006.12:157207645:A:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001007026.2:c.467C>T NP_001007027.1:p.Ala156Val NC_000012.12:6935733:C:T p.(Ala156Val) NC_000012.12:6935733:C:T p.(Ala156Val) NC_000012.12:6935733:C:T Identity +NM_001134363.3:c.2944A>G NP_001127835.2:p.Arg982Gly NC_000010.11:110821562:A:G p.(Arg982Gly) NC_000010.11:110821562:A:G p.(Arg982Gly) NC_000010.11:110821562:A:G Identity +NM_001282587.2:c.2257G>A NP_001269516.1:p.Val753Met NC_000001.11:9264716:G:A p.(Val753Met) NC_000001.11:9264716:G:A p.(Val753Met) NC_000001.11:9264716:G:A Identity +NM_014571.4:c.328C>G NP_055386.2:p.Arg110Gly NC_000001.11:39627165:G:C p.(Arg110Gly) NC_000001.11:39627165:G:C p.(Arg110Gly) NC_000001.11:39627165:G:C Identity +NM_001184.4:c.1768T>G NP_001175.2:p.Leu590Val NC_000003.12:142558740:A:C p.(Leu590Val) NC_000003.12:142558740:A:C p.(Leu590Val) NC_000003.12:142558740:A:C Identity +NM_001321307.1:c.2453A>G NP_001308236.1:p.Lys818Arg NC_000011.10:108172530:T:C p.(Lys818Arg) NC_000011.10:108172530:T:C p.(Lys818Arg) NC_000011.10:108172530:T:C Identity +NM_001321307.1:c.1610A>G NP_001308236.1:p.Asp537Gly NC_000011.10:108173373:T:C p.(Asp537Gly) NC_000011.10:108173373:T:C p.(Asp537Gly) NC_000011.10:108173373:T:C Identity +NM_001376.5:c.8608C>T NP_001367.2:p.Pro2870Ser NC_000014.9:102022850:C:T p.(Pro2870Ser) NC_000014.9:102022850:C:T p.(Pro2870Ser) NC_000014.9:102022850:C:T Identity +NM_002432.3:c.581C>A NP_002423.1:p.Thr194Asn NC_000001.11:158845596:C:A p.(Thr194Asn) NC_000001.11:158845596:C:A p.(Thr194Asn) NC_000001.11:158845596:C:A Identity +NM_001040108.2:c.2869A>G NP_001035197.1:p.Ser957Gly NC_000014.9:75046786:T:C p.(Ser957Gly) NC_000014.9:75046786:T:C p.(Ser957Gly) NC_000014.9:75046786:T:C Identity +NM_001040108.2:c.2673_2674delinsAT NP_001035197.1:p.Met892Leu NC_000014.9:75046981:TC:AT p.(Met892Leu) NC_000014.9:75046981:TC:AT p.(Met892Leu) NC_000014.9:75046981:TC:AT Identity +NM_001365951.3:c.4222T>C NP_001352880.1:p.Phe1408Leu NC_000001.11:10361742:T:C p.(Phe1408Leu) NC_000001.11:10361742:T:C p.(Phe1408Leu) NC_000001.11:10361742:T:C Identity +NM_001089.3:c.182C>G NP_001080.2:p.Ser61Cys NC_000016.10:2326146:G:C p.(Ser61Cys) NC_000016.10:2326146:G:C p.(Ser61Cys) NC_000016.10:2326146:G:C Identity +NM_001430.5:c.1453C>T NP_001421.2:p.Pro485Ser NC_000002.12:46378665:C:T p.(Pro485Ser) NC_000002.12:46378665:C:T p.(Pro485Ser) NC_000002.12:46378665:C:T Identity +NM_001111125.3:c.339C>A NP_001104595.1:p.Asp113Glu NC_000023.11:53320784:G:T p.(Asp113Glu) NC_000023.11:53320784:G:T p.(Asp113Glu) NC_000023.11:53320784:G:T Identity +NM_024640.4:c.658G>A NP_078916.3:p.Val220Ile NC_000001.11:37804410:C:T p.(Val220Ile) NC_000001.11:37804410:C:T p.(Val220Ile) NC_000001.11:37804410:C:T Identity +NM_001297595.2:c.1954C>G NP_001284524.1:p.Gln652Glu NC_000019.10:16869606:C:G p.(Gln652Glu) NC_000019.10:16869606:C:G p.(Gln652Glu) NC_000019.10:16869606:C:G Identity +NM_006516.4:c.1367A>C NP_006507.2:p.Lys456Thr NC_000001.11:42927152:T:G p.(Lys456Thr) NC_000001.11:42927152:T:G p.(Lys456Thr) NC_000001.11:42927152:T:G Identity +NM_001304815.2:c.4646A>T NP_001291744.1:p.Gln1549Leu NC_000019.10:42290686:A:T p.(Gln1549Leu) NC_000019.10:42290686:A:T p.(Gln1549Leu) NC_000019.10:42290686:A:T Identity +NM_001184741.1:c.956C>T NP_001171670.1:p.Thr319Ile NC_000004.12:154569687:C:T p.(Thr319Ile) NC_000004.12:154569687:C:T p.(Thr319Ile) NC_000004.12:154569687:C:T Identity +NM_001393501.1:c.1333C>A NP_001380430.1:p.Gln445Lys NC_000019.10:18130578:C:A p.(Gln445Lys) NC_000019.10:18130578:C:A p.(Gln445Lys) NC_000019.10:18130578:C:A Identity +NM_000444.6:c.1268T>C NP_000435.3:p.Val423Ala NC_000023.11:22114551:T:C p.(Val423Ala) NC_000023.11:22114551:T:C p.(Val423Ala) NC_000023.11:22114551:T:C Identity +NM_000138.5:c.4265del NP_000129.3:p.Asn1422fs NC_000015.10:48472621:TT:T p.(Asn1422MetfsTer53) NC_000015.10:48472621:TT:T p.(Asn1422MetfsTer53) NC_000015.10:48472621:T: Analogous +NM_000088.4:c.3977T>G NP_000079.2:p.Phe1326Cys NC_000017.11:50186344:A:C p.(Phe1326Cys) NC_000017.11:50186344:A:C p.(Phe1326Cys) NC_000017.11:50186344:A:C Identity +NM_001300946.3:c.673C>T NP_001287875.1:p.Arg225Ter NC_000019.10:19495801:C:T p.(Arg225Ter) NC_000019.10:19495801:C:T p.(Arg225Ter) NC_000019.10:19495801:C:T Identity +NM_001289007.2:c.980T>C NP_001275936.1:p.Leu327Ser NC_000005.10:88199084:A:G p.(Leu327Ser) NC_000005.10:88199084:A:G p.(Leu327Ser) NC_000005.10:88199084:A:G Identity +NM_001143826.3:c.388C>T NP_001137298.1:p.Arg130Ter NC_000018.10:35102065:C:T p.(Arg130Ter) NC_000018.10:35102065:C:T p.(Arg130Ter) NC_000018.10:35102065:C:T Identity +NM_000419.5:c.2264G>A NP_000410.2:p.Arg755Gln NC_000017.11:44377011:C:T p.(Arg755Gln) NC_000017.11:44377011:C:T p.(Arg755Gln) NC_000017.11:44377011:C:T Identity +NM_001349608.2:c.2495G>C NP_001336537.1:p.Gly832Ala NC_000001.11:7665131:G:C p.(Gly832Ala) NC_000001.11:7665131:G:C p.(Gly832Ala) NC_000001.11:7665131:G:C Identity +NM_001301010.3:c.1700G>A NP_001287939.2:p.Gly567Glu NC_000011.10:107504952:C:T p.(Gly567Glu) NC_000011.10:107504952:C:T p.(Gly567Glu) NC_000011.10:107504952:C:T Identity +NM_025145.7:c.3831T>G NP_079421.5:p.Tyr1277Ter NC_000010.11:104146286:A:C p.(Tyr1277Ter) NC_000010.11:104146286:A:C p.(Tyr1277Ter) NC_000010.11:104146286:A:C Identity +NM_001844.5:c.1429G>C NP_001835.3:p.Gly477Arg NC_000012.12:47986433:C:G p.(Gly477Arg) NC_000012.12:47986433:C:G p.(Gly477Arg) NC_000012.12:47986433:C:G Identity +NM_000447.3:c.904G>T NP_000438.2:p.Val302Phe NC_000001.11:226891294:G:T p.(Val302Phe) NC_000001.11:226891294:G:T p.(Val302Phe) NC_000001.11:226891294:G:T Identity +NM_002180.3:c.1917del NP_002171.2:p.Phe640fs NC_000011.10:68936395:CC:C p.(Phe640LeufsTer93) NC_000011.10:68936395:CC:C p.(Phe640LeufsTer93) NC_000011.10:68936396:C: Analogous +NM_001379403.1:c.262C>T NP_001366332.1:p.His88Tyr NC_000001.11:224434143:G:A p.(His88Tyr) NC_000001.11:224434143:G:A p.(His88Tyr) NC_000001.11:224434143:G:A Identity +NM_001024858.4:c.4716_4729del NP_001020029.1:p.Gly1575fs NC_000014.9:64775237:GCCTCCCGGCCGCTGCCTCCCG:GCCTCCCG p.(Gly1575ThrfsTer18) NC_000014.9:64775237:GCCTCCCGGCCGCTGCCTCCCG:GCCTCCCG p.(Gly1575ThrfsTer18) NC_000014.9:64775237:GCCTCCCGGCCGCT: Analogous +NM_001276479.2:c.709C>T NP_001263408.1:p.Arg237Trp NC_000019.10:5708372:G:A p.(Arg237Trp) NC_000019.10:5708372:G:A p.(Arg237Trp) NC_000019.10:5708372:G:A Identity +NM_000179.3:c.1435A>G NP_000170.1:p.Lys479Glu NC_000002.12:47799417:A:G p.(Lys479Glu) NC_000002.12:47799417:A:G p.(Lys479Glu) NC_000002.12:47799417:A:G Identity +NM_001354435.2:c.1841G>T NP_001341364.1:p.Ser614Ile NC_000004.12:99652807:C:A p.(Ser614Ile) NC_000004.12:99652807:C:A p.(Ser614Ile) NC_000004.12:99652807:C:A Identity +NM_001330209.2:c.1189T>A NP_001317138.1:p.Tyr397Asn NC_000023.11:13756664:T:A p.(Tyr397Asn) NC_000023.11:13756664:T:A p.(Tyr397Asn) NC_000023.11:13756664:T:A Identity +NM_001127892.2:c.2695G>A NP_001121364.1:p.Gly899Ser NC_000016.10:51139235:C:T p.(Gly899Ser) NC_000016.10:51139235:C:T p.(Gly899Ser) NC_000016.10:51139235:C:T Identity +NM_001376472.1:c.487G>A NP_001363401.1:p.Ala163Thr NC_000022.11:50077438:C:T p.(Ala163Thr) NC_000022.11:50077438:C:T p.(Ala163Thr) NC_000022.11:50077438:C:T Identity +NM_017541.4:c.305G>A NP_060011.1:p.Gly102Glu NC_000003.12:186538927:C:T p.(Gly102Glu) NC_000003.12:186538927:C:T p.(Gly102Glu) NC_000003.12:186538927:C:T Identity +NM_001256213.2:c.1112C>G NP_001243142.1:p.Thr371Arg NC_000019.10:41982020:G:C p.(Thr371Arg) NC_000019.10:41982020:G:C p.(Thr371Arg) NC_000019.10:41982020:G:C Identity +NM_000832.7:c.2051T>C NP_000823.4:p.Val684Ala NC_000009.12:137162882:T:C p.(Val684Ala) NC_000009.12:137162882:T:C p.(Val684Ala) NC_000009.12:137162882:T:C Identity +NM_001039590.3:c.5632G>A NP_001034679.2:p.Gly1878Arg NC_000023.11:41216198:G:A p.(Gly1878Arg) NC_000023.11:41216198:G:A p.(Gly1878Arg) NC_000023.11:41216198:G:A Identity +NM_001322019.2:c.444G>C NP_001308948.1:p.Glu148Asp NC_000002.12:240021212:C:G p.(Glu148Asp) NC_000002.12:240021212:C:G p.(Glu148Asp) NC_000002.12:240021212:C:G Identity +NM_001098398.2:c.349A>G NP_001091868.1:p.Ile117Val NC_000001.11:160333639:T:C p.(Ile117Val) NC_000001.11:160333639:T:C p.(Ile117Val) NC_000001.11:160333639:T:C Identity +NM_017617.5:c.5497G>T NP_060087.3:p.Asp1833Tyr NC_000009.12:136501888:C:A p.(Asp1833Tyr) NC_000009.12:136501888:C:A p.(Asp1833Tyr) NC_000009.12:136501888:C:A Identity +NM_001110219.3:c.585G>A NP_001103689.1:p.Met195Ile NC_000013.11:20222895:C:T p.(Met195Ile) NC_000013.11:20222895:C:T p.(Met195Ile) NC_000013.11:20222895:C:T Identity +NM_001011649.3:c.1550A>T NP_001011649.1:p.Glu517Val NC_000009.12:120487369:T:A p.(Glu517Val) NC_000009.12:120487369:T:A p.(Glu517Val) NC_000009.12:120487369:T:A Identity +NM_014727.3:c.1350A>C NP_055542.1:p.Gln450His NC_000019.10:35720696:A:C p.(Gln450His) NC_000019.10:35720696:A:C p.(Gln450His) NC_000019.10:35720696:A:C Identity +NM_003737.4:c.163C>T NP_003728.1:p.Gln55Ter NC_000011.10:6641450:G:A p.(Gln55Ter) NC_000011.10:6641450:G:A p.(Gln55Ter) NC_000011.10:6641450:G:A Identity +NM_001308122.2:c.1462G>A NP_001295051.1:p.Gly488Arg NC_000005.10:132392554:G:A p.(Gly488Arg) NC_000005.10:132392554:G:A p.(Gly488Arg) NC_000005.10:132392554:G:A Identity +NM_001300907.1:c.398G>A NP_001287836.1:p.Cys133Tyr NC_000011.10:68171077:C:T p.(Cys133Tyr) NC_000011.10:68171077:C:T p.(Cys133Tyr) NC_000011.10:68171077:C:T Identity +NM_004281.4:c.1108C>G NP_004272.2:p.Pro370Ala NC_000010.11:119676661:C:G p.(Pro370Ala) NC_000010.11:119676661:C:G p.(Pro370Ala) NC_000010.11:119676661:C:G Identity +NM_001379277.1:c.5533A>G NP_001366206.1:p.Arg1845Gly NC_000007.14:92099860:A:G p.(Arg1845Gly) NC_000007.14:92099860:A:G p.(Arg1845Gly) NC_000007.14:92099860:A:G Identity +NM_001394062.1:c.21752G>C NP_001380991.1:p.Arg7251Pro NC_000001.11:39463684:G:C p.(Arg7251Pro) NC_000001.11:39463684:G:C p.(Arg7251Pro) NC_000001.11:39463684:G:C Identity +NM_004700.4:c.2002T>C NP_004691.2:p.Tyr668His NC_000001.11:40838436:T:C p.(Tyr668His) NC_000001.11:40838436:T:C p.(Tyr668His) NC_000001.11:40838436:T:C Identity +NM_001257361.2:c.1331G>A NP_001244290.1:p.Arg444His NC_000001.11:109628757:G:A p.(Arg444His) NC_000001.11:109628757:G:A p.(Arg444His) NC_000001.11:109628757:G:A Identity +NM_144658.4:c.3893T>G NP_653259.3:p.Leu1298Arg NC_000023.11:118636351:T:G p.(Leu1298Arg) NC_000023.11:118636351:T:G p.(Leu1298Arg) NC_000023.11:118636351:T:G Identity +NM_001131019.3:c.53G>T NP_001124491.1:p.Gly18Val NC_000017.11:44915433:C:A p.(Gly18Val) NC_000017.11:44915433:C:A p.(Gly18Val) NC_000017.11:44915433:C:A Identity +NM_000462.5:c.1859G>A NP_000453.2:p.Gly620Asp NC_000015.10:25356799:C:T p.(Gly620Asp) NC_000015.10:25356799:C:T p.(Gly620Asp) NC_000015.10:25356799:C:T Identity +NM_001351273.1:c.3086G>C NP_001338202.1:p.Trp1029Ser NC_000019.10:1466389:G:C p.(Trp1029Ser) NC_000019.10:1466389:G:C p.(Trp1029Ser) NC_000019.10:1466389:G:C Identity +NM_017890.5:c.12032T>A NP_060360.3:p.Met4011Lys NC_000008.11:99875628:T:A p.(Met4011Lys) NC_000008.11:99875628:T:A p.(Met4011Lys) NC_000008.11:99875628:T:A Identity +NM_001144758.3:c.2603G>A NP_001138230.1:p.Arg868His NC_000011.10:118638957:G:A p.(Arg868His) NC_000011.10:118638957:G:A p.(Arg868His) NC_000011.10:118638957:G:A Identity +NM_001184917.3:c.957G>C NP_001171846.1:p.Lys319Asn NC_000017.11:81905669:C:G p.(Lys319Asn) NC_000017.11:81905669:C:G p.(Lys319Asn) NC_000017.11:81905669:C:G Identity +NM_001256310.2:c.1270T>C NP_001243239.1:p.Cys424Arg NC_000002.12:190927326:T:C p.(Cys424Arg) NC_000002.12:190927326:T:C p.(Cys424Arg) NC_000002.12:190927326:T:C Identity +NM_001139517.1:c.784C>T NP_001132989.1:p.Leu262Phe NC_000002.12:178432221:G:A p.(Leu262Phe) NC_000002.12:178432221:G:A p.(Leu262Phe) NC_000002.12:178432221:G:A Identity +NM_001411054.1:c.2563G>T NP_001397983.1:p.Gly855Trp NC_000014.9:102966295:C:A p.(Gly855Trp) NC_000014.9:102966295:C:A p.(Gly855Trp) NC_000014.9:102966295:C:A Identity +NM_133259.4:c.2882T>C NP_573566.2:p.Leu961Pro NC_000002.12:43925080:A:G p.(Leu961Pro) NC_000002.12:43925080:A:G p.(Leu961Pro) NC_000002.12:43925080:A:G Identity +NM_003036.4:c.686dup NP_003027.1:p.Leu231fs NC_000001.11:2229450:AA:AAA p.(Leu231AlafsTer97) NC_000001.11:2229450:AA:AAA p.(Leu231AlafsTer97) ERR:SPDI Analogous +NM_001111125.3:c.2533C>T NP_001104595.1:p.Arg845Trp NC_000023.11:53248162:G:A p.(Arg845Trp) NC_000023.11:53248162:G:A p.(Arg845Trp) NC_000023.11:53248162:G:A Identity +NM_007118.4:c.7181C>A NP_009049.2:p.Pro2394His NC_000005.10:14487808:C:A p.(Pro2394His) NC_000005.10:14487808:C:A p.(Pro2394His) NC_000005.10:14487808:C:A Identity +NM_001200.4:c.632C>G NP_001191.1:p.Pro211Arg NC_000020.11:6778529:C:G p.(Pro211Arg) NC_000020.11:6778529:C:G p.(Pro211Arg) NC_000020.11:6778529:C:G Identity +NM_001029871.4:c.320G>A NP_001025042.2:p.Cys107Tyr NC_000020.11:967262:C:T p.(Cys107Tyr) NC_000020.11:967262:C:T p.(Cys107Tyr) NC_000020.11:967262:C:T Identity +NM_001146702.2:c.3095T>C NP_001140174.1:p.Leu1032Pro NC_000023.11:53195234:A:G p.(Leu1032Pro) NC_000023.11:53195234:A:G p.(Leu1032Pro) NC_000023.11:53195234:A:G Identity +NM_001615.4:c.137T>C NP_001606.1:p.Val46Ala NC_000002.12:73902369:T:C p.(Val46Ala) NC_000002.12:73902369:T:C p.(Val46Ala) NC_000002.12:73902369:T:C Identity +NM_001193300.2:c.1064_1065del NP_001180229.1:p.Lys355fs NC_000001.11:156163022:AAA:A p.(Lys355ArgfsTer13) NC_000001.11:156163022:AAA:A p.(Lys355ArgfsTer13) NC_000001.11:156163023:AA: Analogous +NM_000293.3:c.2839C>T NP_000284.1:p.Gln947Ter NC_000016.10:47693450:C:T p.(Gln947Ter) NC_000016.10:47693450:C:T p.(Gln947Ter) NC_000016.10:47693450:C:T Identity +NM_001376.5:c.3670A>C NP_001367.2:p.Ile1224Leu NC_000014.9:101997139:A:C p.(Ile1224Leu) NC_000014.9:101997139:A:C p.(Ile1224Leu) NC_000014.9:101997139:A:C Identity +NM_001126131.2:c.3538_3539dup NP_001119603.1:p.Ala1182fs NC_000015.10:89317479:AAAAA:AAAAAAA p.(Ala1182ValfsTer13) NC_000015.10:89317479:AAAAA:AAAAAAA p.(Ala1182ValfsTer13) ERR:SPDI Analogous +NM_000828.5:c.1957G>T NP_000819.4:p.Ala653Ser NC_000023.11:123428019:G:T p.(Ala653Ser) NC_000023.11:123428019:G:T p.(Ala653Ser) NC_000023.11:123428019:G:T Identity +NM_001123395.2:c.181C>T NP_001116867.1:p.Gln61Ter NC_000001.11:42739882:G:A p.(Gln61Ter) NC_000001.11:42739882:G:A p.(Gln61Ter) NC_000001.11:42739882:G:A Identity +NM_000138.5:c.7833C>A NP_000129.3:p.Cys2611Ter NC_000015.10:48415753:G:T p.(Cys2611Ter) NC_000015.10:48415753:G:T p.(Cys2611Ter) NC_000015.10:48415753:G:T Identity +NM_000433.4:c.500G>A NP_000424.2:p.Trp167Ter NC_000001.11:183574487:C:T p.(Trp167Ter) NC_000001.11:183574487:C:T p.(Trp167Ter) NC_000001.11:183574487:C:T Identity +NM_001007204.1:c.1741delG NP_001007205.1:p.Glu581Argfs NC_000001.11:156876507:G: ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_001711.6:c.75G>A NP_001702.1:p.Trp25Ter NC_000023.11:153504705:G:A p.(Trp25Ter) NC_000023.11:153504705:G:A p.(Trp25Ter) NC_000023.11:153504705:G:A Identity +NM_000348.4:c.428A>T NP_000339.2:p.Asp143Val NC_000002.12:31533619:T:A p.(Asp143Val) NC_000002.12:31533619:T:A p.(Asp143Val) NC_000002.12:31533619:T:A Identity +NM_017649.5:c.968A>G NP_060119.3:p.Asn323Ser NC_000010.11:102919447:A:G p.(Asn323Ser) NC_000010.11:102919447:A:G p.(Asn323Ser) NC_000010.11:102919447:A:G Identity +NM_000094.4:c.7987G>T NP_000085.1:p.Glu2663Ter NC_000003.12:48567632:C:A p.(Glu2663Ter) NC_000003.12:48567632:C:A p.(Glu2663Ter) NC_000003.12:48567632:C:A Identity +NM_001256850.1:c.46697A>G NP_001243779.1:p.Tyr15566Cys NC_000002.12:178609802:T:C p.(Tyr15566Cys) NC_000002.12:178609802:T:C p.(Tyr15566Cys) NC_000002.12:178609802:T:C Identity +NM_001256213.2:c.482C>A NP_001243142.1:p.Ser161Tyr NC_000019.10:41986137:G:T p.(Ser161Tyr) NC_000019.10:41986137:G:T p.(Ser161Tyr) NC_000019.10:41986137:G:T Identity +NM_001282531.3:c.3047dup NP_001269460.1:p.Ala1017fs NC_000020.11:50891666:TTTTTTTT:TTTTTTTTT p.(Ala1017GlyfsTer6) NC_000020.11:50891666:TTTTTTTT:TTTTTTTTT p.(Ala1017GlyfsTer6) ERR:SPDI Analogous +NM_001025107.3:c.2206C>T NP_001020278.1:p.Leu736Phe NC_000001.11:154586291:G:A p.(Leu736Phe) NC_000001.11:154586291:G:A p.(Leu736Phe) NC_000001.11:154586291:G:A Identity +NM_001304815.2:c.5675C>T NP_001291744.1:p.Pro1892Leu NC_000019.10:42292146:C:T p.(Pro1892Leu) NC_000019.10:42292146:C:T p.(Pro1892Leu) NC_000019.10:42292146:C:T Identity +NM_015354.3:c.3910C>G NP_056169.1:p.Leu1304Val NC_000009.12:129001594:C:G p.(Leu1304Val) NC_000009.12:129001594:C:G p.(Leu1304Val) NC_000009.12:129001594:C:G Identity +NM_000050.4:c.815G>A NP_000041.2:p.Arg272His NC_000009.12:130480425:G:A p.(Arg272His) NC_000009.12:130480425:G:A p.(Arg272His) NC_000009.12:130480425:G:A Identity +NM_000110.4:c.1537G>C NP_000101.2:p.Ala513Pro NC_000001.11:97515928:C:G p.(Ala513Pro) NC_000001.11:97515928:C:G p.(Ala513Pro) NC_000001.11:97515928:C:G Identity +NM_018896.5:c.5951T>C NP_061496.2:p.Leu1984Pro NC_000017.11:50621684:T:C p.(Leu1984Pro) NC_000017.11:50621684:T:C p.(Leu1984Pro) NC_000017.11:50621684:T:C Identity +NM_001128844.3:c.2953G>A NP_001122316.1:p.Glu985Lys NC_000019.10:11023610:G:A p.(Glu985Lys) NC_000019.10:11023610:G:A p.(Glu985Lys) NC_000019.10:11023610:G:A Identity +NM_000296.4:c.3031G>A NP_000287.4:p.Val1011Ile NC_000016.10:2112917:C:T p.(Val1011Ile) NC_000016.10:2112917:C:T p.(Val1011Ile) NC_000016.10:2112917:C:T Identity +NM_001135024.2:c.611C>G NP_001128496.2:p.Ser204Ter NC_000011.10:34966788:C:G p.(Ser204Ter) NC_000011.10:34966788:C:G p.(Ser204Ter) NC_000011.10:34966788:C:G Identity +NM_001371271.1:c.1010C>T NP_001358200.1:p.Thr337Met NC_000002.12:120970556:C:T p.(Thr337Met) NC_000002.12:120970556:C:T p.(Thr337Met) NC_000002.12:120970556:C:T Identity +NM_001025076.2:c.34G>A NP_001020247.1:p.Asp12Asn NC_000010.11:11165537:G:A p.(Asp12Asn) NC_000010.11:11165537:G:A p.(Asp12Asn) NC_000010.11:11165537:G:A Identity +NM_001126131.2:c.1606G>T NP_001119603.1:p.Glu536Ter NC_000015.10:89326717:C:A p.(Glu536Ter) NC_000015.10:89326717:C:A p.(Glu536Ter) NC_000015.10:89326717:C:A Identity +NM_001278055.2:c.8349_8352del NP_001264984.1:p.Lys2783fs NC_000013.11:23335082:TTTTTTT:TTT p.(Lys2783AsnfsTer22) NC_000013.11:23335082:TTTTTTT:TTT p.(Lys2783AsnfsTer22) NC_000013.11:23335082:TTTT: Analogous +NM_001321309.2:c.3903G>T NP_001308238.1:p.Gln1301His NC_000003.12:123647411:C:A p.(Gln1301His) NC_000003.12:123647411:C:A p.(Gln1301His) NC_000003.12:123647411:C:A Identity +NM_001372.4:c.2311C>T NP_001363.2:p.Arg771Cys NC_000017.11:11651281:C:T p.(Arg771Cys) NC_000017.11:11651281:C:T p.(Arg771Cys) NC_000017.11:11651281:C:T Identity +NM_024577.4:c.1691A>G NP_078853.2:p.Asp564Gly NC_000005.10:149028040:T:C p.(Asp564Gly) NC_000005.10:149028040:T:C p.(Asp564Gly) NC_000005.10:149028040:T:C Identity +NM_003803.4:c.2103C>G NP_003794.3:p.Asp701Glu NC_000018.10:3135652:G:C p.(Asp701Glu) NC_000018.10:3135652:G:C p.(Asp701Glu) NC_000018.10:3135652:G:C Identity +NM_001256074.3:c.1517del NP_001243003.1:p.Pro506fs NC_000004.12:108844549:GGG:GG p.(Pro506HisfsTer25) NC_000004.12:108844549:GGG:GG p.(Pro506HisfsTer25) NC_000004.12:108844549:G: Analogous +NM_000215.4:c.115dup NP_000206.2:p.Gln39fs NC_000019.10:17844302:GGGGGGG:GGGGGGGG p.(Gln39ProfsTer13) NC_000019.10:17844302:GGGGGGG:GGGGGGGG p.(Gln39ProfsTer13) ERR:SPDI Analogous +NM_000356.4:c.3858G>T NP_000347.2:p.Lys1286Asn NC_000005.10:150396588:G:T p.(Lys1286Asn) NC_000005.10:150396588:G:T p.(Lys1286Asn) NC_000005.10:150396588:G:T Identity +NM_001363711.2:c.2408C>T NP_001350640.1:p.Thr803Ile NC_000015.10:45104291:G:A p.(Thr803Ile) NC_000015.10:45104291:G:A p.(Thr803Ile) NC_000015.10:45104291:G:A Identity +NM_001008537.3:c.3737G>A NP_001008537.1:p.Ser1246Asn NC_000023.11:74740819:C:T p.(Ser1246Asn) NC_000023.11:74740819:C:T p.(Ser1246Asn) NC_000023.11:74740819:C:T Identity +NM_005445.4:c.3421T>A NP_005436.1:p.Leu1141Met NC_000010.11:110602947:T:A p.(Leu1141Met) NC_000010.11:110602947:T:A p.(Leu1141Met) NC_000010.11:110602947:T:A Identity +NM_024496.4:c.1627A>T NP_078772.1:p.Lys543Ter NC_000014.9:77026165:T:A p.(Lys543Ter) NC_000014.9:77026165:T:A p.(Lys543Ter) NC_000014.9:77026165:T:A Identity +NM_003482.4:c.9617G>T NP_003473.3:p.Gly3206Val NC_000012.12:49037738:C:A p.(Gly3206Val) NC_000012.12:49037738:C:A p.(Gly3206Val) NC_000012.12:49037738:C:A Identity +NM_001282237.2:c.343G>A NP_001269166.1:p.Gly115Arg NC_000014.9:99257551:C:T p.(Gly115Arg) NC_000014.9:99257551:C:T p.(Gly115Arg) NC_000014.9:99257551:C:T Identity +NM_001079.4:c.493del NP_001070.2:p.His165fs NC_000002.12:97725180:CC:C p.(His165ThrfsTer4) NC_000002.12:97725180:CC:C p.(His165ThrfsTer4) NC_000002.12:97725181:C: Analogous +NM_001165255.2:c.242G>A NP_001158727.1:p.Arg81Gln NC_000007.14:157005847:C:T p.(Arg81Gln) NC_000007.14:157005847:C:T p.(Arg81Gln) NC_000007.14:157005847:C:T Identity +NM_007118.4:c.3673G>A NP_009049.2:p.Asp1225Asn NC_000005.10:14387539:G:A p.(Asp1225Asn) NC_000005.10:14387539:G:A p.(Asp1225Asn) NC_000005.10:14387539:G:A Identity +NM_152424.4:c.3074_3075del NP_689637.3:p.His1025fs NC_000023.11:64190211:GTGTG:GTG p.(His1025ProfsTer10) NC_000023.11:64190211:GTGTG:GTG p.(His1025ProfsTer10) NC_000023.11:64190211:GT: Analogous +NM_001037343.2:c.322C>G NP_001032420.1:p.Pro108Ala NC_000023.11:18579886:C:G p.(Pro108Ala) NC_000023.11:18579886:C:G p.(Pro108Ala) NC_000023.11:18579886:C:G Identity +NM_000719.7:c.2296C>A NP_000710.5:p.Gln766Lys NC_000012.12:2584573:C:A p.(Gln766Lys) NC_000012.12:2584573:C:A p.(Gln766Lys) NC_000012.12:2584573:C:A Identity +NM_001282237.2:c.2552A>T NP_001269166.1:p.Glu851Val NC_000014.9:99174280:T:A p.(Glu851Val) NC_000014.9:99174280:T:A p.(Glu851Val) NC_000014.9:99174280:T:A Identity +NM_000218.3:c.248del NP_000209.2:p.Pro83fs NC_000011.10:2445344:CC:C p.(Pro83ArgfsTer3) NC_000011.10:2445344:CC:C p.(Pro83ArgfsTer3) NC_000011.10:2445345:C: Analogous +NM_001282356.2:c.809C>A NP_001269285.1:p.Ser270Ter NC_000008.11:91338162:C:A p.(Ser270Ter) NC_000008.11:91338162:C:A p.(Ser270Ter) NC_000008.11:91338162:C:A Identity +NM_020436.5:c.2456dup NP_065169.1:p.Met819fs NC_000020.11:51790026:A:AA p.(Met819IlefsTer22) NC_000020.11:51790026:A:AA p.(Met819IlefsTer22) ERR:SPDI Analogous +NM_005372.1:c.591T>G NP_005363.1:p.Ile197Met NC_000008.11:56113391:A:C p.(Ile197Met) NC_000008.11:56113391:A:C p.(Ile197Met) NC_000008.11:56113391:A:C Identity +NM_001042424.3:c.2692G>A NP_001035889.1:p.Val898Ile NC_000004.12:1955998:G:A p.(Val898Ile) NC_000004.12:1955998:G:A p.(Val898Ile) NC_000004.12:1955998:G:A Identity +NM_001033604.2:c.794A>G NP_001028776.1:p.Glu265Gly NC_000007.14:33273102:A:G p.(Glu265Gly) NC_000007.14:33273102:A:G p.(Glu265Gly) NC_000007.14:33273102:A:G Identity +NM_001321732.2:c.145G>A NP_001308661.1:p.Gly49Ser NC_000005.10:177515732:C:T p.(Gly49Ser) NC_000005.10:177515732:C:T p.(Gly49Ser) NC_000005.10:177515732:C:T Identity +NM_001846.4:c.941G>T NP_001837.2:p.Gly314Val NC_000013.11:110439816:G:T p.(Gly314Val) NC_000013.11:110439816:G:T p.(Gly314Val) NC_000013.11:110439816:G:T Identity +NM_001127384.3:c.1009_1015del NP_001120856.1:p.Gln337fs NC_000010.11:67180348:GAGCCTGG:G p.(Gln337PhefsTer9) NC_000010.11:67180348:GAGCCTGG:G p.(Gln337PhefsTer9) NC_000010.11:67180348:GAGCCTG: Analogous +NM_001136472.2:c.403C>G NP_001129944.1:p.Pro135Ala NC_000016.10:11549719:G:C p.(Pro135Ala) NC_000016.10:11549719:G:C p.(Pro135Ala) NC_000016.10:11549719:G:C Identity +NM_017551.3:c.596A>G NP_060021.1:p.Lys199Arg NC_000010.11:86138948:T:C p.(Lys199Arg) NC_000010.11:86138948:T:C p.(Lys199Arg) NC_000010.11:86138948:T:C Identity +NM_000390.4:c.1274A>G NP_000381.1:p.Gln425Arg NC_000023.11:85901158:T:C p.(Gln425Arg) NC_000023.11:85901158:T:C p.(Gln425Arg) NC_000023.11:85901158:T:C Identity +NM_001134453.3:c.126_129del NP_001127925.1:p.Thr43fs NC_000018.10:31386726:CAAACA:CA p.(Thr43SerfsTer40) NC_000018.10:31386726:CAAACA:CA p.(Thr43SerfsTer40) NC_000018.10:31386728:AACA: Analogous +NM_001317184.2:c.281_283delinsGT NP_001304113.1:p.Pro94fs NC_000016.10:68801786:CAC:GT p.(Pro94ArgfsTer23) NC_000016.10:68801785:CCAC:CGT p.(Pro94ArgfsTer23) NC_000016.10:68801786:CAC:GT Analogous +NM_000260.4:c.2991_2992del NP_000251.3:p.Glu998fs NC_000011.10:77182036:TG: p.(Glu998ValfsTer2) NC_000011.10:77182036:TG: p.(Glu998ValfsTer2) NC_000011.10:77182036:TG: Analogous +NM_001410772.1:c.2026C>T NP_001397701.1:p.Gln676Ter NC_000003.12:52402397:G:A p.(Gln676Ter) NC_000003.12:52402397:G:A p.(Gln676Ter) NC_000003.12:52402397:G:A Identity +NM_003124.5:c.631del NP_003115.1:p.Glu211fs NC_000002.12:72891379:GGG:GG p.(Glu211ArgfsTer15) NC_000002.12:72891379:GGG:GG p.(Glu211ArgfsTer15) NC_000002.12:72891381:G: Analogous +NM_001354989.2:c.238G>C NP_001341918.1:p.Val80Leu NC_000005.10:180630716:C:G p.(Val80Leu) NC_000005.10:180630716:C:G p.(Val80Leu) NC_000005.10:180630716:C:G Identity +NM_004304.5:c.2841C>G NP_004295.2:p.Asp947Glu NC_000002.12:29227646:G:C p.(Asp947Glu) NC_000002.12:29227646:G:C p.(Asp947Glu) NC_000002.12:29227646:G:C Identity +NM_001372044.2:c.940G>A NP_001358973.1:p.Asp314Asn NC_000022.11:50679132:G:A p.(Asp314Asn) NC_000022.11:50679132:G:A p.(Asp314Asn) NC_000022.11:50679132:G:A Identity +NM_000168.6:c.151C>T NP_000159.3:p.His51Tyr NC_000007.14:42148441:G:A p.(His51Tyr) NC_000007.14:42148441:G:A p.(His51Tyr) NC_000007.14:42148441:G:A Identity +NM_001172766.3:c.295A>T NP_001166237.1:p.Ile99Phe NC_000007.14:114628575:A:T p.(Ile99Phe) NC_000007.14:114628575:A:T p.(Ile99Phe) NC_000007.14:114628575:A:T Identity +NM_138376.3:c.418C>T NP_612385.2:p.Gln140Ter NC_000014.9:20299426:G:A p.(Gln140Ter) NC_000014.9:20299426:G:A p.(Gln140Ter) NC_000014.9:20299426:G:A Identity +NM_000260.4:c.4017dup NP_000251.3:p.Ala1340fs NC_000011.10:77192142:C:CC p.(Ala1340ArgfsTer44) NC_000011.10:77192142:C:CC p.(Ala1340ArgfsTer44) ERR:SPDI Analogous +NM_000260.4:c.2093A>G NP_000251.3:p.Gln698Arg NC_000011.10:77174912:A:G p.(Gln698Arg) NC_000011.10:77174912:A:G p.(Gln698Arg) NC_000011.10:77174912:A:G Identity +NM_016941.4:c.854A>G NP_058637.1:p.Asn285Ser NC_000019.10:39504271:A:G p.(Asn285Ser) NC_000019.10:39504271:A:G p.(Asn285Ser) NC_000019.10:39504271:A:G Identity +NM_001317184.2:c.977T>A NP_001304113.1:p.Ile326Asn NC_000016.10:68811827:T:A p.(Ile326Asn) NC_000016.10:68811827:T:A p.(Ile326Asn) NC_000016.10:68811827:T:A Identity +NM_015909.4:c.5723A>G NP_056993.2:p.Lys1908Arg NC_000002.12:15275484:T:C p.(Lys1908Arg) NC_000002.12:15275484:T:C p.(Lys1908Arg) NC_000002.12:15275484:T:C Identity +NM_003482.3:c.1351_1353CCA[1] NP_003473.3:p.Pro453del NC_000012.12:49052324:GGTGGTGG:GGTGG ERR:Data provider error: ValueError: Transcript NM_003482.3 not found ERR:Data provider error: ValueError: Transcript NM_003482.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_003482.3 not found +NM_001164507.2:c.10170G>A NP_001157979.2:p.Trp3390Ter NC_000002.12:151627178:C:T p.(Trp3390Ter) NC_000002.12:151627178:C:T p.(Trp3390Ter) NC_000002.12:151627178:C:T Identity +NM_001144.6:c.12del NP_001135.3:p.Phe5fs NC_000016.10:56425315:G: p.(Phe5SerfsTer45) NC_000016.10:56425315:G: p.(Phe5SerfsTer45) NC_000016.10:56425315:G: Analogous +NM_001967.4:c.1156C>T NP_001958.2:p.Arg386Cys NC_000003.12:186789200:C:T p.(Arg386Cys) NC_000003.12:186789200:C:T p.(Arg386Cys) NC_000003.12:186789200:C:T Identity +NM_000828.5:c.490C>G NP_000819.4:p.Leu164Val NC_000023.11:123253523:C:G p.(Leu164Val) NC_000023.11:123253523:C:G p.(Leu164Val) NC_000023.11:123253523:C:G Identity +NM_000303.3:c.640G>C NP_000294.1:p.Gly214Arg NC_000016.10:8847723:G:C p.(Gly214Arg) NC_000016.10:8847723:G:C p.(Gly214Arg) NC_000016.10:8847723:G:C Identity +NM_001256790.3:c.26G>A NP_001243719.1:p.Gly9Asp NC_000023.11:49233283:C:T p.(Gly9Asp) NC_000023.11:49233283:C:T p.(Gly9Asp) NC_000023.11:49233283:C:T Identity +NM_001172695.2:c.192C>A NP_001166166.1:p.Cys64Ter NC_000012.12:57783243:C:A p.(Cys64Ter) NC_000012.12:57783243:C:A p.(Cys64Ter) NC_000012.12:57783243:C:A Identity +NM_001366177.2:c.7267C>T NP_001353106.1:p.Arg2423Ter NC_000001.11:155352819:G:A p.(Arg2423Ter) NC_000001.11:155352819:G:A p.(Arg2423Ter) NC_000001.11:155352819:G:A Identity +NM_000257.4:c.2108G>A NP_000248.2:p.Arg703His NC_000014.9:23426017:C:T p.(Arg703His) NC_000014.9:23426017:C:T p.(Arg703His) NC_000014.9:23426017:C:T Identity +NM_001002294.3:c.584C>T NP_001002294.1:p.Ser195Leu NC_000001.11:171108177:C:T p.(Ser195Leu) NC_000001.11:171108177:C:T p.(Ser195Leu) NC_000001.11:171108177:C:T Identity +NM_002769.5:c.325A>C NP_002760.1:p.Met109Leu NC_000007.14:142751897:A:C p.(Met109Leu) NC_000007.14:142751897:A:C p.(Met109Leu) NC_000007.14:142751897:A:C Identity +NM_001146702.2:c.604C>G NP_001140174.1:p.Pro202Ala NC_000023.11:53215952:G:C p.(Pro202Ala) NC_000023.11:53215952:G:C p.(Pro202Ala) NC_000023.11:53215952:G:C Identity +NM_007113.4:c.699del NP_009044.2:p.Gln234fs NC_000001.11:152112517:CC:C p.(Gln234LysfsTer53) NC_000001.11:152112517:CC:C p.(Gln234LysfsTer53) NC_000001.11:152112517:C: Analogous +NM_173689.7:c.1622C>T NP_775960.4:p.Pro541Leu NC_000009.12:123370674:C:T p.(Pro541Leu) NC_000009.12:123370674:C:T p.(Pro541Leu) NC_000009.12:123370674:C:T Identity +NM_001164716.1:c.1774A>G NP_001158188.1:p.Met592Val NC_000011.10:64750514:T:C p.(Met592Val) NC_000011.10:64750514:T:C p.(Met592Val) NC_000011.10:64750514:T:C Identity +NM_004789.4:c.139_149del NP_004780.3:p.Ser47fs NC_000009.12:124013976:GCAGTGACCGCGC:GC p.(Ser47ArgfsTer49) NC_000009.12:124013976:GCAGTGACCGCGC:GC p.(Ser47ArgfsTer49) NC_000009.12:124013978:AGTGACCGCGC: Analogous +NM_001260474.2:c.709G>A NP_001247403.1:p.Asp237Asn NC_000021.9:42855698:C:T p.(Asp237Asn) NC_000021.9:42855698:C:T p.(Asp237Asn) NC_000021.9:42855698:C:T Identity +NM_017950.4:c.3229G>A NP_060420.2:p.Ala1077Thr NC_000017.11:80099574:G:A p.(Ala1077Thr) NC_000017.11:80099574:G:A p.(Ala1077Thr) NC_000017.11:80099574:G:A Identity +NM_001386500.1:c.5138C>T NP_001373429.1:p.Ala1713Val NC_000001.11:11134458:G:A p.(Ala1713Val) NC_000001.11:11134458:G:A p.(Ala1713Val) NC_000001.11:11134458:G:A Identity +NM_000533.5:c.229T>C NP_000524.3:p.Ser77Pro NC_000023.11:103786501:T:C p.(Ser77Pro) NC_000023.11:103786501:T:C p.(Ser77Pro) NC_000023.11:103786501:T:C Identity +NM_001080424.2:c.3422A>C NP_001073893.1:p.Asp1141Ala NC_000017.11:7849709:A:C p.(Asp1141Ala) NC_000017.11:7849709:A:C p.(Asp1141Ala) NC_000017.11:7849709:A:C Identity +NM_001204087.2:c.1100G>C NP_001191016.1:p.Ser367Thr NC_000001.11:154772322:C:G p.(Ser367Thr) NC_000001.11:154772322:C:G p.(Ser367Thr) NC_000001.11:154772322:C:G Identity +NM_001001890.3:c.1175_1181dup NP_001001890.1:p.Glu395fs NC_000021.9:34792315:CCGCCCACC:CCGCCCACCGCCCACC p.(Glu395GlyfsTer180) NC_000021.9:34792315:CCGCCCACC:CCGCCCACCGCCCACC p.(Glu395GlyfsTer180) ERR:SPDI Analogous +NM_001002295.2:c.613A>T NP_001002295.1:p.Met205Leu NC_000010.11:8058675:A:T p.(Met205Leu) NC_000010.11:8058675:A:T p.(Met205Leu) NC_000010.11:8058675:A:T Identity +NM_001410714.1:c.1542C>G NP_001397643.1:p.Tyr514Ter NC_000004.12:25124149:G:C p.(Tyr514Ter) NC_000004.12:25124149:G:C p.(Tyr514Ter) NC_000004.12:25124149:G:C Identity +NM_001410705.1:c.3681C>G NP_001397634.1:p.Asp1227Glu NC_000023.11:153954717:G:C p.(Asp1227Glu) NC_000023.11:153954717:G:C p.(Asp1227Glu) NC_000023.11:153954717:G:C Identity +NM_001142805.2:c.634G>A NP_001136277.1:p.Glu212Lys NC_000023.11:153691542:G:A p.(Glu212Lys) NC_000023.11:153691542:G:A p.(Glu212Lys) NC_000023.11:153691542:G:A Identity +NM_000162.5:c.59T>C NP_000153.1:p.Leu20Pro NC_000007.14:44153449:A:G p.(Leu20Pro) NC_000007.14:44153449:A:G p.(Leu20Pro) NC_000007.14:44153449:A:G Identity +NM_001293306.2:c.5224A>G NP_001280235.2:p.Met1742Val NC_000003.12:38697992:T:C p.(Met1742Val) NC_000003.12:38697992:T:C p.(Met1742Val) NC_000003.12:38697992:T:C Identity +NM_001284214.2:c.650C>G NP_001271143.1:p.Pro217Arg NC_000002.12:229859148:G:C p.(Pro217Arg) NC_000002.12:229859148:G:C p.(Pro217Arg) NC_000002.12:229859148:G:C Identity +NM_001042749.2:c.1595C>T NP_001036214.1:p.Ala532Val NC_000023.11:124061830:C:T p.(Ala532Val) NC_000023.11:124061830:C:T p.(Ala532Val) NC_000023.11:124061830:C:T Identity +NM_001394998.1:c.1552G>T NP_001381927.1:p.Ala518Ser NC_000017.11:63319066:G:T p.(Ala518Ser) NC_000017.11:63319066:G:T p.(Ala518Ser) NC_000017.11:63319066:G:T Identity +NM_000702.4:c.2462A>G NP_000693.1:p.Tyr821Cys NC_000001.11:160136268:A:G p.(Tyr821Cys) NC_000001.11:160136268:A:G p.(Tyr821Cys) NC_000001.11:160136268:A:G Identity +NM_015192.4:c.2468G>A NP_056007.1:p.Arg823Lys NC_000020.11:8741517:G:A p.(Arg823Lys) NC_000020.11:8741517:G:A p.(Arg823Lys) NC_000020.11:8741517:G:A Identity +NM_173495.3:c.543G>C NP_775766.2:p.Lys181Asn NC_000023.11:23379781:G:C p.(Lys181Asn) NC_000023.11:23379781:G:C p.(Lys181Asn) NC_000023.11:23379781:G:C Identity +NM_001193270.2:c.706G>C NP_001180199.1:p.Glu236Gln NC_000023.11:11762989:G:C p.(Glu236Gln) NC_000023.11:11762989:G:C p.(Glu236Gln) NC_000023.11:11762989:G:C Identity +NM_001287188.2:c.937G>A NP_001274117.1:p.Ala313Thr NC_000002.12:10440785:C:T p.(Ala313Thr) NC_000002.12:10440785:C:T p.(Ala313Thr) NC_000002.12:10440785:C:T Identity +NM_000604.2:c.2232_2235dup NP_000595.1:p.Phe747Hisfs NC_000008.11:38413971:GGTGGGT:GGTGGGTGGGT ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_000068.4:c.816T>A NP_000059.3:p.Cys272Ter NC_000019.10:13359767:A:T p.(Cys272Ter) NC_000019.10:13359767:A:T p.(Cys272Ter) NC_000019.10:13359767:A:T Identity +NM_001135.4:c.4903G>A NP_001126.3:p.Gly1635Arg NC_000015.10:88857487:G:A p.(Gly1635Arg) NC_000015.10:88857487:G:A p.(Gly1635Arg) NC_000015.10:88857487:G:A Identity +NM_000829.4:c.822A>T NP_000820.4:p.Lys274Asn NC_000011.10:105898363:A:T p.(Lys274Asn) NC_000011.10:105898363:A:T p.(Lys274Asn) NC_000011.10:105898363:A:T Identity +NM_001160227.2:c.1313T>C NP_001153699.1:p.Leu438Pro NC_000015.10:44651633:A:G p.(Leu438Pro) NC_000015.10:44651633:A:G p.(Leu438Pro) NC_000015.10:44651633:A:G Identity +NM_001102.4:c.716T>C NP_001093.1:p.Met239Thr NC_000014.9:68902522:A:G p.(Met239Thr) NC_000014.9:68902522:A:G p.(Met239Thr) NC_000014.9:68902522:A:G Identity +NM_138295.5:c.4337T>C NP_612152.1:p.Ile1446Thr NC_000007.14:47858697:A:G p.(Ile1446Thr) NC_000007.14:47858697:A:G p.(Ile1446Thr) NC_000007.14:47858697:A:G Identity +NM_139058.3:c.164C>A NP_620689.1:p.Thr55Asn NC_000023.11:25015573:G:T p.(Thr55Asn) NC_000023.11:25015573:G:T p.(Thr55Asn) NC_000023.11:25015573:G:T Identity +NM_001199107.2:c.1540C>G NP_001186036.1:p.Gln514Glu NC_000016.10:2500817:C:G p.(Gln514Glu) NC_000016.10:2500817:C:G p.(Gln514Glu) NC_000016.10:2500817:C:G Identity +NM_001844.5:c.2071G>T NP_001835.3:p.Ala691Ser NC_000012.12:47983115:C:A p.(Ala691Ser) NC_000012.12:47983115:C:A p.(Ala691Ser) NC_000012.12:47983115:C:A Identity +NM_001042537.2:c.1843C>G NP_001036002.1:p.Gln615Glu NC_000023.11:136044460:C:G p.(Gln615Glu) NC_000023.11:136044460:C:G p.(Gln615Glu) NC_000023.11:136044460:C:G Identity +NM_001278196.2:c.394G>A NP_001265125.1:p.Glu132Lys NC_000001.11:244054194:G:A p.(Glu132Lys) NC_000001.11:244054194:G:A p.(Glu132Lys) NC_000001.11:244054194:G:A Identity +NM_000552.5:c.4826G>A NP_000543.3:p.Gly1609Glu NC_000012.12:6018591:C:T p.(Gly1609Glu) NC_000012.12:6018591:C:T p.(Gly1609Glu) NC_000012.12:6018591:C:T Identity +NM_000356.4:c.785C>G NP_000347.2:p.Ser262Ter NC_000005.10:150374318:C:G p.(Ser262Ter) NC_000005.10:150374318:C:G p.(Ser262Ter) NC_000005.10:150374318:C:G Identity +NM_001286457.2:c.2789G>C NP_001273386.2:p.Ser930Thr NC_000016.10:8895723:C:G p.(Ser930Thr) NC_000016.10:8895723:C:G p.(Ser930Thr) NC_000016.10:8895723:C:G Identity +NM_022168.4:c.296T>A NP_071451.2:p.Leu99His NC_000002.12:162318011:A:T p.(Leu99His) NC_000002.12:162318011:A:T p.(Leu99His) NC_000002.12:162318011:A:T Identity +NM_006734.4:c.6904C>G NP_006725.3:p.Pro2302Ala NC_000006.12:142753543:G:C p.(Pro2302Ala) NC_000006.12:142753543:G:C p.(Pro2302Ala) NC_000006.12:142753543:G:C Identity +NM_000425.5:c.641C>T NP_000416.1:p.Pro214Leu NC_000023.11:153870842:G:A p.(Pro214Leu) NC_000023.11:153870842:G:A p.(Pro214Leu) NC_000023.11:153870842:G:A Identity +NM_014991.6:c.5069T>C NP_055806.2:p.Ile1690Thr NC_000004.12:84765928:A:G p.(Ile1690Thr) NC_000004.12:84765928:A:G p.(Ile1690Thr) NC_000004.12:84765928:A:G Identity +NM_000721.4:c.5738C>G NP_000712.2:p.Ala1913Gly NC_000001.11:181785770:C:G p.(Ala1913Gly) NC_000001.11:181785770:C:G p.(Ala1913Gly) NC_000001.11:181785770:C:G Identity +NM_001197104.2:c.9255C>A NP_001184033.1:p.Asn3085Lys NC_000011.10:118505146:C:A p.(Asn3085Lys) NC_000011.10:118505146:C:A p.(Asn3085Lys) NC_000011.10:118505146:C:A Identity +NM_001304840.3:c.941A>C NP_001291769.1:p.Glu314Ala NC_000002.12:196318880:T:G p.(Glu314Ala) NC_000002.12:196318880:T:G p.(Glu314Ala) NC_000002.12:196318880:T:G Identity +NM_000083.3:c.1106A>C NP_000074.3:p.His369Pro NC_000007.14:143331591:A:C p.(His369Pro) NC_000007.14:143331591:A:C p.(His369Pro) NC_000007.14:143331591:A:C Identity +NM_001257374.3:c.633GGA[1] NP_001244303.1:p.Glu212del NC_000001.11:156135932:GGAGGA:GGA p.(Glu212del) NC_000001.11:156135932:G:GGA ERR:Parse ERR:Parse Identity +NM_001365951.3:c.2137G>A NP_001352880.1:p.Ala713Thr NC_000001.11:10320063:G:A p.(Ala713Thr) NC_000001.11:10320063:G:A p.(Ala713Thr) NC_000001.11:10320063:G:A Identity +NM_000604.2:c.2263G>C NP_000595.1:p.Asp755His NC_000008.11:38413946:C:G ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_000554.6:c.445_467del NP_000545.1:p.Pro149fs NC_000019.10:47839507:CGGCCCCTCAGGCTCCCCAACCACGGC:CGGC p.(Pro149SerfsTer17) NC_000019.10:47839507:CGGCCCCTCAGGCTCCCCAACCACGGC:CGGC p.(Pro149SerfsTer17) NC_000019.10:47839511:CCCTCAGGCTCCCCAACCACGGC: Analogous +NM_000400.4:c.1780G>C NP_000391.1:p.Ala594Pro NC_000019.10:45353133:C:G p.(Ala594Pro) NC_000019.10:45353133:C:G p.(Ala594Pro) NC_000019.10:45353133:C:G Identity +NM_020639.3:c.467A>C NP_065690.2:p.His156Pro NC_000021.9:41756531:T:G p.(His156Pro) NC_000021.9:41756531:T:G p.(His156Pro) NC_000021.9:41756531:T:G Identity +NM_001135.4:c.6232del NP_001126.3:p.Asp2078fs NC_000015.10:88858813:GGGG:GGG p.(Asp2078ThrfsTer14) NC_000015.10:88858813:GGGG:GGG p.(Asp2078ThrfsTer14) NC_000015.10:88858816:G: Analogous +NM_016343.4:c.5645T>C NP_057427.3:p.Ile1882Thr NC_000001.11:214645214:T:C p.(Ile1882Thr) NC_000001.11:214645214:T:C p.(Ile1882Thr) NC_000001.11:214645214:T:C Identity +NM_000457.6:c.403G>T NP_000448.3:p.Asp135Tyr NC_000020.11:44413710:G:T p.(Asp135Tyr) NC_000020.11:44413710:G:T p.(Asp135Tyr) NC_000020.11:44413710:G:T Identity +NM_000059.4:c.8087T>C NP_000050.3:p.Leu2696Ser NC_000013.11:32363288:T:C p.(Leu2696Ser) NC_000013.11:32363288:T:C p.(Leu2696Ser) NC_000013.11:32363288:T:C Identity +NM_003620.4:c.1535dup NP_003611.1:p.Asn512fs NC_000017.11:60663262:AAAAAAA:AAAAAAAA p.(Asn512LysfsTer16) NC_000017.11:60663262:AAAAAAA:AAAAAAAA p.(Asn512LysfsTer16) ERR:SPDI Analogous +NM_007118.4:c.757G>A NP_009049.2:p.Ala253Thr NC_000005.10:14290931:G:A p.(Ala253Thr) NC_000005.10:14290931:G:A p.(Ala253Thr) NC_000005.10:14290931:G:A Identity +NM_001079821.3:c.2068G>T NP_001073289.2:p.Glu690Ter NC_000001.11:247425516:G:T p.(Glu690Ter) NC_000001.11:247425516:G:T p.(Glu690Ter) NC_000001.11:247425516:G:T Identity +NM_007192.4:c.1056G>A NP_009123.1:p.Met352Ile NC_000014.9:21365133:C:T p.(Met352Ile) NC_000014.9:21365133:C:T p.(Met352Ile) NC_000014.9:21365133:C:T Identity +NM_001280787.1:c.410T>C NP_001267716.1:p.Ile137Thr NC_000009.12:133352459:A:G p.(Ile137Thr) NC_000009.12:133352459:A:G p.(Ile137Thr) NC_000009.12:133352459:A:G Identity +NM_001410805.1:c.58G>A NP_001397734.1:p.Ala20Thr NC_000003.12:128895389:G:A p.(Ala20Thr) NC_000003.12:128895389:G:A p.(Ala20Thr) NC_000003.12:128895389:G:A Identity +NM_001005366.2:c.3095T>C NP_001005366.1:p.Leu1032Ser NC_000012.12:121441215:A:G p.(Leu1032Ser) NC_000012.12:121441215:A:G p.(Leu1032Ser) NC_000012.12:121441215:A:G Identity +NM_001177984.3:c.3739A>T NP_001171455.1:p.Met1247Leu NC_000012.12:51774281:A:T p.(Met1247Leu) NC_000012.12:51774281:A:T p.(Met1247Leu) NC_000012.12:51774281:A:T Identity +NM_001184772.3:c.97C>G NP_001171701.1:p.Leu33Val NC_000023.11:130012587:C:G p.(Leu33Val) NC_000023.11:130012587:C:G p.(Leu33Val) NC_000023.11:130012587:C:G Identity +NM_000296.4:c.2037del NP_000287.4:p.Tyr680fs NC_000016.10:2115437:GGGGG:GGGG p.(Tyr680MetfsTer105) NC_000016.10:2115437:GGGGG:GGGG p.(Tyr680MetfsTer105) NC_000016.10:2115437:G: Analogous +NM_001081.4:c.10611C>A NP_001072.2:p.Cys3537Ter NC_000010.11:16828957:G:T p.(Cys3537Ter) NC_000010.11:16828957:G:T p.(Cys3537Ter) NC_000010.11:16828957:G:T Identity +NM_017890.5:c.8875C>T NP_060360.3:p.Gln2959Ter NC_000008.11:99819927:C:T p.(Gln2959Ter) NC_000008.11:99819927:C:T p.(Gln2959Ter) NC_000008.11:99819927:C:T Identity +NM_000088.4:c.3082G>A NP_000079.2:p.Gly1028Ser NC_000017.11:50188758:C:T p.(Gly1028Ser) NC_000017.11:50188758:C:T p.(Gly1028Ser) NC_000017.11:50188758:C:T Identity +NM_001190964.4:c.2189G>T NP_001177893.1:p.Cys730Phe NC_000013.11:20036805:G:T p.(Cys730Phe) NC_000013.11:20036805:G:T p.(Cys730Phe) NC_000013.11:20036805:G:T Identity +NM_000116.5:c.280C>G NP_000107.1:p.Arg94Gly NC_000023.11:154413247:C:G p.(Arg94Gly) NC_000023.11:154413247:C:G p.(Arg94Gly) NC_000023.11:154413247:C:G Identity +NM_001079668.3:c.196del NP_001073136.1:p.Ala66fs NC_000014.9:36519251:CCCC:CCC p.(Ala66LeufsTer35) NC_000014.9:36519251:CCCC:CCC p.(Ala66LeufsTer35) NC_000014.9:36519251:C: Analogous +NM_000212.3:c.2027A>C NP_000203.2:p.Lys676Thr NC_000017.11:47302732:A:C p.(Lys676Thr) NC_000017.11:47302732:A:C p.(Lys676Thr) NC_000017.11:47302732:A:C Identity +NM_001256850.1:c.80984C>G NP_001243779.1:p.Pro26995Arg NC_000002.12:178560224:G:C p.(Pro26995Arg) NC_000002.12:178560224:G:C p.(Pro26995Arg) NC_000002.12:178560224:G:C Identity +NM_000094.4:c.2697C>G NP_000085.1:p.His899Gln NC_000003.12:48588294:G:C p.(His899Gln) NC_000003.12:48588294:G:C p.(His899Gln) NC_000003.12:48588294:G:C Identity +NM_000215.4:c.874T>G NP_000206.2:p.Phe292Val NC_000019.10:17841749:A:C p.(Phe292Val) NC_000019.10:17841749:A:C p.(Phe292Val) NC_000019.10:17841749:A:C Identity +NM_001999.4:c.3425G>A NP_001990.2:p.Cys1142Tyr NC_000005.10:128338979:C:T p.(Cys1142Tyr) NC_000005.10:128338979:C:T p.(Cys1142Tyr) NC_000005.10:128338979:C:T Identity +NM_002471.4:c.4231G>A NP_002462.2:p.Ala1411Thr NC_000014.9:23388282:C:T p.(Ala1411Thr) NC_000014.9:23388282:C:T p.(Ala1411Thr) NC_000014.9:23388282:C:T Identity +NM_005245.4:c.8159C>T NP_005236.2:p.Thr2720Ile NC_000004.12:186618426:G:A p.(Thr2720Ile) NC_000004.12:186618426:G:A p.(Thr2720Ile) NC_000004.12:186618426:G:A Identity +NM_033071.5:c.7082G>A NP_149062.2:p.Ser2361Asn NC_000006.12:152399791:C:T p.(Ser2361Asn) NC_000006.12:152399791:C:T p.(Ser2361Asn) NC_000006.12:152399791:C:T Identity +NM_001184985.2:c.5595G>C NP_001171914.1:p.Gln1865His NC_000012.12:885618:G:C p.(Gln1865His) NC_000012.12:885618:G:C p.(Gln1865His) NC_000012.12:885618:G:C Identity +NM_001105243.2:c.1090C>G NP_001098713.1:p.Pro364Ala NC_000023.11:100407507:G:C p.(Pro364Ala) NC_000023.11:100407507:G:C p.(Pro364Ala) NC_000023.11:100407507:G:C Identity +NM_000068.4:c.1025C>T NP_000059.3:p.Pro342Leu NC_000019.10:13335862:G:A p.(Pro342Leu) NC_000019.10:13335862:G:A p.(Pro342Leu) NC_000019.10:13335862:G:A Identity +NM_002506.3:c.163C>G NP_002497.2:p.Pro55Ala NC_000001.11:115286632:G:C p.(Pro55Ala) NC_000001.11:115286632:G:C p.(Pro55Ala) NC_000001.11:115286632:G:C Identity +NM_000094.4:c.6110G>T NP_000085.1:p.Gly2037Val NC_000003.12:48575408:C:A p.(Gly2037Val) NC_000003.12:48575408:C:A p.(Gly2037Val) NC_000003.12:48575408:C:A Identity +NM_152491.5:c.824G>A NP_689704.4:p.Ser275Asn NC_000001.11:205843669:C:T p.(Ser275Asn) NC_000001.11:205843669:C:T p.(Ser275Asn) NC_000001.11:205843669:C:T Identity +NM_020531.3:c.758T>C NP_065392.1:p.Leu253Ser NC_000020.11:24969615:A:G p.(Leu253Ser) NC_000020.11:24969615:A:G p.(Leu253Ser) NC_000020.11:24969615:A:G Identity +NM_000116.5:c.481G>A NP_000107.1:p.Gly161Arg NC_000023.11:154419562:G:A p.(Gly161Arg) NC_000023.11:154419562:G:A p.(Gly161Arg) NC_000023.11:154419562:G:A Identity +NM_001079668.3:c.905del NP_001073136.1:p.Ala302fs NC_000014.9:36517578:G: p.(Ala302GlyfsTer79) NC_000014.9:36517578:G: p.(Ala302GlyfsTer79) NC_000014.9:36517578:G: Analogous +NM_001379245.1:c.850C>T NP_001366174.1:p.Arg284Cys NC_000013.11:35050272:C:T p.(Arg284Cys) NC_000013.11:35050272:C:T p.(Arg284Cys) NC_000013.11:35050272:C:T Identity +NM_002547.3:c.850T>G NP_002538.1:p.Trp284Gly NC_000023.11:68206655:A:C p.(Trp284Gly) NC_000023.11:68206655:A:C p.(Trp284Gly) NC_000023.11:68206655:A:C Identity +NM_000235.4:c.1122T>G NP_000226.2:p.His374Gln NC_000010.11:89214905:A:C p.(His374Gln) NC_000010.11:89214905:A:C p.(His374Gln) NC_000010.11:89214905:A:C Identity +NM_001256053.2:c.556G>A NP_001242982.1:p.Ala186Thr NC_000010.11:27092487:C:T p.(Ala186Thr) NC_000010.11:27092487:C:T p.(Ala186Thr) NC_000010.11:27092487:C:T Identity +NM_001170629.2:c.6470A>G NP_001164100.1:p.Asp2157Gly NC_000014.9:21392807:T:C p.(Asp2157Gly) NC_000014.9:21392807:T:C p.(Asp2157Gly) NC_000014.9:21392807:T:C Identity +NM_001004426.3:c.1502A>G NP_001004426.1:p.Tyr501Cys NC_000022.11:38120836:T:C p.(Tyr501Cys) NC_000022.11:38120836:T:C p.(Tyr501Cys) NC_000022.11:38120836:T:C Identity +NM_021240.4:c.523A>G NP_067063.1:p.Thr175Ala NC_000009.12:990108:A:G p.(Thr175Ala) NC_000009.12:990108:A:G p.(Thr175Ala) NC_000009.12:990108:A:G Identity +NM_001184824.4:c.1849A>C NP_001171753.1:p.Thr617Pro NC_000016.10:68357143:A:C p.(Thr617Pro) NC_000016.10:68357143:A:C p.(Thr617Pro) NC_000016.10:68357143:A:C Identity +NM_001184937.2:c.1214C>G NP_001171866.1:p.Ser405Cys NC_000002.12:120100278:C:G p.(Ser405Cys) NC_000002.12:120100278:C:G p.(Ser405Cys) NC_000002.12:120100278:C:G Identity +NM_018060.4:c.2337T>G NP_060530.3:p.Phe779Leu NC_000001.11:220140211:T:G p.(Phe779Leu) NC_000001.11:220140211:T:G p.(Phe779Leu) NC_000001.11:220140211:T:G Identity +NM_053006.5:c.965G>A NP_443732.3:p.Arg322Gln NC_000022.11:19132363:G:A p.(Arg322Gln) NC_000022.11:19132363:G:A p.(Arg322Gln) NC_000022.11:19132363:G:A Identity +NM_001411058.1:c.2062A>G NP_001397987.1:p.Ile688Val NC_000010.11:103418589:A:G p.(Ile688Val) NC_000010.11:103418589:A:G p.(Ile688Val) NC_000010.11:103418589:A:G Identity +NM_001100122.2:c.2869G>A NP_001093592.1:p.Gly957Ser NC_000019.10:1109765:C:T p.(Gly957Ser) NC_000019.10:1109765:C:T p.(Gly957Ser) NC_000019.10:1109765:C:T Identity +NM_015202.5:c.2788C>T NP_056017.4:p.Gln930Ter NC_000016.10:27749747:C:T p.(Gln930Ter) NC_000016.10:27749747:C:T p.(Gln930Ter) NC_000016.10:27749747:C:T Identity +NM_006593.4:c.337C>T NP_006584.1:p.Pro113Ser NC_000002.12:161416746:C:T p.(Pro113Ser) NC_000002.12:161416746:C:T p.(Pro113Ser) NC_000002.12:161416746:C:T Identity +NM_001256182.2:c.4567C>G NP_001243111.1:p.Pro1523Ala NC_000016.10:89281974:G:C p.(Pro1523Ala) NC_000016.10:89281974:G:C p.(Pro1523Ala) NC_000016.10:89281974:G:C Identity +NM_000116.5:c.149T>C NP_000107.1:p.Leu50Pro NC_000023.11:154412124:T:C p.(Leu50Pro) NC_000023.11:154412124:T:C p.(Leu50Pro) NC_000023.11:154412124:T:C Identity +NM_000116.5:c.747_748insCGGGCGCCGGCGGCTCTCC NP_000107.1:p.Glu250fs NC_000023.11:154420704:C:CCGGGCGCCGGCGGCTCTCC p.(Glu250ArgfsTer67) NC_000023.11:154420704:C:CGGGCGCCGGCGGCTCTCC p.(Glu250ArgfsTer67) NC_000023.11:154420705:CG:CGGGCGCCGGCGGCTCTCC Analogous +NM_014258.4:c.212T>C NP_055073.2:p.Val71Ala NC_000020.11:59920443:A:G p.(Val71Ala) NC_000020.11:59920443:A:G p.(Val71Ala) NC_000020.11:59920443:A:G Identity +NM_018557.3:c.1373G>C NP_061027.2:p.Gly458Ala NC_000002.12:141058917:C:G p.(Gly458Ala) NC_000002.12:141058917:C:G p.(Gly458Ala) NC_000002.12:141058917:C:G Identity +NM_000819.5:c.2536G>A NP_000810.1:p.Ala846Thr NC_000021.9:33506020:C:T p.(Ala846Thr) NC_000021.9:33506020:C:T p.(Ala846Thr) NC_000021.9:33506020:C:T Identity +NM_000937.5:c.2857G>C NP_000928.1:p.Glu953Gln NC_000017.11:7503220:G:C p.(Glu953Gln) NC_000017.11:7503220:G:C p.(Glu953Gln) NC_000017.11:7503220:G:C Identity +NM_006908.5:c.140A>G NP_008839.2:p.Asp47Gly NC_000007.14:6391955:A:G p.(Asp47Gly) NC_000007.14:6391955:A:G p.(Asp47Gly) NC_000007.14:6391955:A:G Identity +NM_001042476.2:c.74G>A NP_001035941.1:p.Arg25Gln NC_000016.10:8859254:C:T p.(Arg25Gln) NC_000016.10:8859254:C:T p.(Arg25Gln) NC_000016.10:8859254:C:T Identity +NM_001168222.2:c.1016G>A NP_001161694.1:p.Arg339His NC_000019.10:49883733:G:A p.(Arg339His) NC_000019.10:49883733:G:A p.(Arg339His) NC_000019.10:49883733:G:A Identity +NM_013353.3:c.671C>T NP_037485.2:p.Thr224Ile NC_000001.11:151171487:G:A p.(Thr224Ile) NC_000001.11:151171487:G:A p.(Thr224Ile) NC_000001.11:151171487:G:A Identity +NM_001349124.2:c.2813A>G NP_001336053.1:p.Asn938Ser NC_000003.12:42638516:A:G p.(Asn938Ser) NC_000003.12:42638516:A:G p.(Asn938Ser) NC_000003.12:42638516:A:G Identity +NM_001392019.1:c.1536G>C NP_001378948.1:p.Met512Ile NC_000003.12:52802485:G:C p.(Met512Ile) NC_000003.12:52802485:G:C p.(Met512Ile) NC_000003.12:52802485:G:C Identity +NM_000044.6:c.2317G>A NP_000035.2:p.Glu773Lys NC_000023.11:67717620:G:A p.(Glu773Lys) NC_000023.11:67717620:G:A p.(Glu773Lys) NC_000023.11:67717620:G:A Identity +NM_001204197.3:c.989T>C NP_001191126.1:p.Leu330Pro NC_000013.11:35628240:T:C p.(Leu330Pro) NC_000013.11:35628240:T:C p.(Leu330Pro) NC_000013.11:35628240:T:C Identity +NM_001393501.1:c.1955C>T NP_001380430.1:p.Thr652Ile NC_000019.10:18135799:C:T p.(Thr652Ile) NC_000019.10:18135799:C:T p.(Thr652Ile) NC_000019.10:18135799:C:T Identity +NM_001853.4:c.610G>A NP_001844.3:p.Val204Ile NC_000020.11:62825000:G:A p.(Val204Ile) NC_000020.11:62825000:G:A p.(Val204Ile) NC_000020.11:62825000:G:A Identity +NM_001256850.1:c.86662G>A NP_001243779.1:p.Gly28888Ser NC_000002.12:178550252:C:T p.(Gly28888Ser) NC_000002.12:178550252:C:T p.(Gly28888Ser) NC_000002.12:178550252:C:T Identity +NM_001145028.2:c.667C>T NP_001138500.2:p.Arg223Trp NC_000019.10:14055004:G:A p.(Arg223Trp) NC_000019.10:14055004:G:A p.(Arg223Trp) NC_000019.10:14055004:G:A Identity +NM_001145304.2:c.1234A>C NP_001138776.1:p.Thr412Pro NC_000019.10:18266305:T:G p.(Thr412Pro) NC_000019.10:18266305:T:G p.(Thr412Pro) NC_000019.10:18266305:T:G Identity +NM_001145346.2:c.1150G>A NP_001138818.1:p.Gly384Arg NC_000023.11:115190590:G:A p.(Gly384Arg) NC_000023.11:115190590:G:A p.(Gly384Arg) NC_000023.11:115190590:G:A Identity +NM_000797.4:c.850A>G NP_000788.2:p.Ser284Gly NC_000011.10:640098:A:G p.(Ser284Gly) NC_000011.10:640098:A:G p.(Ser284Gly) NC_000011.10:640098:A:G Identity +NM_001168222.2:c.290G>A NP_001161694.1:p.Arg97His NC_000019.10:49881336:G:A p.(Arg97His) NC_000019.10:49881336:G:A p.(Arg97His) NC_000019.10:49881336:G:A Identity +NM_001372.4:c.4597C>T NP_001363.2:p.Arg1533Trp NC_000017.11:11690418:C:T p.(Arg1533Trp) NC_000017.11:11690418:C:T p.(Arg1533Trp) NC_000017.11:11690418:C:T Identity +NM_005188.4:c.1298del NP_005179.2:p.Pro433fs NC_000011.10:119278578:CC:C p.(Pro433ArgfsTer11) NC_000011.10:119278578:CC:C p.(Pro433ArgfsTer11) NC_000011.10:119278579:C: Analogous +NM_001270380.3:c.1219C>A NP_001257309.1:p.Pro407Thr NC_000011.10:74848338:G:T p.(Pro407Thr) NC_000011.10:74848338:G:T p.(Pro407Thr) NC_000011.10:74848338:G:T Identity +NM_001370264.1:c.77G>A NP_001357193.1:p.Arg26Gln NC_000003.12:37997507:G:A p.(Arg26Gln) NC_000003.12:37997507:G:A p.(Arg26Gln) NC_000003.12:37997507:G:A Identity +NM_000671.4:c.178T>G NP_000662.3:p.Cys60Gly NC_000004.12:99082052:A:C p.(Cys60Gly) NC_000004.12:99082052:A:C p.(Cys60Gly) NC_000004.12:99082052:A:C Identity +NM_018438.6:c.214G>A NP_060908.1:p.Val72Met NC_000001.11:11668871:G:A p.(Val72Met) NC_000001.11:11668871:G:A p.(Val72Met) NC_000001.11:11668871:G:A Identity +NM_001010984.4:c.628A>G NP_001010984.1:p.Ile210Val NC_000001.11:231351480:A:G p.(Ile210Val) NC_000001.11:231351480:A:G p.(Ile210Val) NC_000001.11:231351480:A:G Identity +NM_001098794.2:c.2045A>G NP_001092264.1:p.Glu682Gly NC_000011.10:6217540:T:C p.(Glu682Gly) NC_000011.10:6217540:T:C p.(Glu682Gly) NC_000011.10:6217540:T:C Identity +NM_001394707.1:c.671G>A NP_001381636.1:p.Arg224His NC_000012.12:56327611:C:T p.(Arg224His) NC_000012.12:56327611:C:T p.(Arg224His) NC_000012.12:56327611:C:T Identity +NM_006901.4:c.2062A>G NP_008832.2:p.Ile688Val NC_000015.10:71960020:T:C p.(Ile688Val) NC_000015.10:71960020:T:C p.(Ile688Val) NC_000015.10:71960020:T:C Identity +NM_001379245.1:c.2759T>C NP_001366174.1:p.Phe920Ser NC_000013.11:35157184:T:C p.(Phe920Ser) NC_000013.11:35157184:T:C p.(Phe920Ser) NC_000013.11:35157184:T:C Identity +NM_001177506.2:c.1839G>A NP_001170977.1:p.Ala613= NC_000007.14:36513259:C:T p.(Ala613=) NC_000007.14:36513259:C:T p.(Ala613=) NC_000007.14:36513259:C:T Identity +NM_001258379.2:c.2910G>C NP_001245308.1:p.Gln970His NC_000003.12:27389996:C:G p.(Gln970His) NC_000003.12:27389996:C:G p.(Gln970His) NC_000003.12:27389996:C:G Identity +NM_001391958.1:c.1579T>G NP_001378887.1:p.Ser527Ala NC_000011.10:7960032:A:C p.(Ser527Ala) NC_000011.10:7960032:A:C p.(Ser527Ala) NC_000011.10:7960032:A:C Identity +NM_015073.3:c.4880G>A NP_055888.1:p.Arg1627Gln NC_000019.10:38198427:G:A p.(Arg1627Gln) NC_000019.10:38198427:G:A p.(Arg1627Gln) NC_000019.10:38198427:G:A Identity +NM_001199570.2:c.1232G>A NP_001186499.1:p.Arg411His NC_000019.10:36017942:C:T p.(Arg411His) NC_000019.10:36017942:C:T p.(Arg411His) NC_000019.10:36017942:C:T Identity +NM_001005366.2:c.1304T>C NP_001005366.1:p.Leu435Pro NC_000012.12:121509816:A:G p.(Leu435Pro) NC_000012.12:121509816:A:G p.(Leu435Pro) NC_000012.12:121509816:A:G Identity +NM_001349608.2:c.1237G>A NP_001336537.1:p.Ala413Thr NC_000001.11:7663873:G:A p.(Ala413Thr) NC_000001.11:7663873:G:A p.(Ala413Thr) NC_000001.11:7663873:G:A Identity +NM_001006115.3:c.662G>A NP_001006115.1:p.Gly221Asp NC_000003.12:49727290:C:T p.(Gly221Asp) NC_000003.12:49727290:C:T p.(Gly221Asp) NC_000003.12:49727290:C:T Identity +NM_001024736.2:c.334G>A NP_001019907.1:p.Val112Met NC_000015.10:73702508:G:A p.(Val112Met) NC_000015.10:73702508:G:A p.(Val112Met) NC_000015.10:73702508:G:A Identity +NM_001297592.2:c.572T>C NP_001284521.1:p.Met191Thr NC_000004.12:25847349:A:G p.(Met191Thr) NC_000004.12:25847349:A:G p.(Met191Thr) NC_000004.12:25847349:A:G Identity +NM_001136540.2:c.529G>T NP_001130012.1:p.Val177Leu NC_000022.11:36265364:G:T p.(Val177Leu) NC_000022.11:36265364:G:T p.(Val177Leu) NC_000022.11:36265364:G:T Identity +NM_020337.3:c.256C>G NP_065070.1:p.Leu86Val NC_000004.12:124710255:G:C p.(Leu86Val) NC_000004.12:124710255:G:C p.(Leu86Val) NC_000004.12:124710255:G:C Identity +NM_001318736.2:c.1294T>C NP_001305665.1:p.Tyr432His NC_000011.10:96365065:A:G p.(Tyr432His) NC_000011.10:96365065:A:G p.(Tyr432His) NC_000011.10:96365065:A:G Identity +NM_001317895.2:c.50C>T NP_001304824.1:p.Ala17Val NC_000008.11:143986221:G:A p.(Ala17Val) NC_000008.11:143986221:G:A p.(Ala17Val) NC_000008.11:143986221:G:A Identity +NM_183058.3:c.254G>A NP_898881.3:p.Arg85His NC_000010.11:30626148:C:T p.(Arg85His) NC_000010.11:30626148:C:T p.(Arg85His) NC_000010.11:30626148:C:T Identity +NM_015585.4:c.1498G>A NP_056400.3:p.Ala500Thr NC_000020.11:20188041:G:A p.(Ala500Thr) NC_000020.11:20188041:G:A p.(Ala500Thr) NC_000020.11:20188041:G:A Identity +NM_001197184.3:c.812C>T NP_001184113.2:p.Thr271Met NC_000014.9:31483153:G:A p.(Thr271Met) NC_000014.9:31483153:G:A p.(Thr271Met) NC_000014.9:31483153:G:A Identity +NM_001080470.2:c.325T>C NP_001073939.1:p.Ser109Pro NC_000001.11:119624017:A:G p.(Ser109Pro) NC_000001.11:119624017:A:G p.(Ser109Pro) NC_000001.11:119624017:A:G Identity +NM_001286341.2:c.544C>G NP_001273270.1:p.Arg182Gly NC_000013.11:45713649:C:G p.(Arg182Gly) NC_000013.11:45713649:C:G p.(Arg182Gly) NC_000013.11:45713649:C:G Identity +NM_001290261.2:c.275G>A NP_001277190.1:p.Arg92Gln NC_000020.11:25677012:C:T p.(Arg92Gln) NC_000020.11:25677012:C:T p.(Arg92Gln) NC_000020.11:25677012:C:T Identity +NM_017817.3:c.299A>G NP_060287.1:p.Asp100Gly NC_000013.11:110524070:T:C p.(Asp100Gly) NC_000013.11:110524070:T:C p.(Asp100Gly) NC_000013.11:110524070:T:C Identity +NM_001190766.2:c.508G>A NP_001177695.1:p.Glu170Lys NC_000006.12:17129207:G:A p.(Glu170Lys) NC_000006.12:17129207:G:A p.(Glu170Lys) NC_000006.12:17129207:G:A Identity +NM_203349.4:c.1000A>G NP_976224.3:p.Ile334Val NC_000015.10:48857761:T:C p.(Ile334Val) NC_000015.10:48857761:T:C p.(Ile334Val) NC_000015.10:48857761:T:C Identity +NM_001199096.2:c.3005G>A NP_001186025.1:p.Arg1002Gln NC_000016.10:1347980:G:A p.(Arg1002Gln) NC_000016.10:1347980:G:A p.(Arg1002Gln) NC_000016.10:1347980:G:A Identity +NM_001184854.2:c.838G>A NP_001171783.1:p.Ala280Thr NC_000016.10:87711269:C:T p.(Ala280Thr) NC_000016.10:87711269:C:T p.(Ala280Thr) NC_000016.10:87711269:C:T Identity +NM_021030.3:c.554A>C NP_066358.2:p.Gln185Pro NC_000019.10:19712726:T:G p.(Gln185Pro) NC_000019.10:19712726:T:G p.(Gln185Pro) NC_000019.10:19712726:T:G Identity +NM_152744.4:c.683A>C NP_689957.3:p.Glu228Ala NC_000007.14:3642074:A:C p.(Glu228Ala) NC_000007.14:3642074:A:C p.(Glu228Ala) NC_000007.14:3642074:A:C Identity +NM_001351369.2:c.578G>A NP_001338298.1:p.Arg193Gln NC_000003.12:183724458:G:A p.(Arg193Gln) NC_000003.12:183724458:G:A p.(Arg193Gln) NC_000003.12:183724458:G:A Identity +NM_001354989.2:c.3469A>C NP_001341918.1:p.Lys1157Gln NC_000005.10:180612573:T:G p.(Lys1157Gln) NC_000005.10:180612573:T:G p.(Lys1157Gln) NC_000005.10:180612573:T:G Identity +NM_001145128.3:c.4539G>T NP_001138600.2:p.Arg1513Ser NC_000006.12:109506742:C:A p.(Arg1513Ser) NC_000006.12:109506742:C:A p.(Arg1513Ser) NC_000006.12:109506742:C:A Identity +NM_001350929.2:c.8356G>A NP_001337858.1:p.Val2786Ile NC_000014.9:104946794:C:T p.(Val2786Ile) NC_000014.9:104946794:C:T p.(Val2786Ile) NC_000014.9:104946794:C:T Identity +NM_003655.3:c.413C>T NP_003646.2:p.Ala138Val NC_000017.11:79835228:G:A p.(Ala138Val) NC_000017.11:79835228:G:A p.(Ala138Val) NC_000017.11:79835228:G:A Identity +NM_001277174.2:c.682C>G NP_001264103.1:p.Pro228Ala NC_000014.9:23358937:G:C p.(Pro228Ala) NC_000014.9:23358937:G:C p.(Pro228Ala) NC_000014.9:23358937:G:C Identity +NM_001354663.2:c.754T>C NP_001341592.1:p.Cys252Arg NC_000003.12:193643031:T:C p.(Cys252Arg) NC_000003.12:193643031:T:C p.(Cys252Arg) NC_000003.12:193643031:T:C Identity +NM_001301063.2:c.1850C>T NP_001287992.1:p.Thr617Ile NC_000005.10:150542850:C:T p.(Thr617Ile) NC_000005.10:150542850:C:T p.(Thr617Ile) NC_000005.10:150542850:C:T Identity +NM_005585.5:c.39_40del NP_005576.3:p.Trp14fs NC_000015.10:66703295:TTT:T p.(Trp14AlafsTer30) NC_000015.10:66703295:TTT:T p.(Trp14AlafsTer30) NC_000015.10:66703296:TT: Analogous +NM_015206.3:c.2031C>G NP_056021.1:p.Asn677Lys NC_000015.10:79458177:C:G p.(Asn677Lys) NC_000015.10:79458177:C:G p.(Asn677Lys) NC_000015.10:79458177:C:G Identity +NM_017422.5:c.218C>T NP_059118.2:p.Ala73Val NC_000010.11:5499220:G:A p.(Ala73Val) NC_000010.11:5499220:G:A p.(Ala73Val) NC_000010.11:5499220:G:A Identity +NM_001320289.2:c.193A>G NP_001307218.1:p.Met65Val NC_000001.11:47030007:A:G p.(Met65Val) NC_000001.11:47030007:A:G p.(Met65Val) NC_000001.11:47030007:A:G Identity +NM_001099338.2:c.621G>A NP_001092808.1:p.Met207Ile NC_000010.11:87228500:G:A p.(Met207Ile) NC_000010.11:87228500:G:A p.(Met207Ile) NC_000010.11:87228500:G:A Identity +NM_000185.4:c.218G>A NP_000176.2:p.Gly73Glu NC_000022.11:20779529:G:A p.(Gly73Glu) NC_000022.11:20779529:G:A p.(Gly73Glu) NC_000022.11:20779529:G:A Identity +NM_001394547.1:c.2596T>G NP_001381476.1:p.Leu866Val NC_000015.10:62712038:T:G p.(Leu866Val) NC_000015.10:62712038:T:G p.(Leu866Val) NC_000015.10:62712038:T:G Identity +NM_001353684.2:c.128A>C NP_001340613.1:p.His43Pro NC_000021.9:31154388:T:G p.(His43Pro) NC_000021.9:31154388:T:G p.(His43Pro) NC_000021.9:31154388:T:G Identity +NM_030903.3:c.41T>C NP_112165.1:p.Leu14Pro NC_000006.12:29045134:A:G p.(Leu14Pro) NC_000006.12:29045134:A:G p.(Leu14Pro) NC_000006.12:29045134:A:G Identity +NM_004195.3:c.134C>T NP_004186.1:p.Thr45Met NC_000001.11:1206437:G:A p.(Thr45Met) NC_000001.11:1206437:G:A p.(Thr45Met) NC_000001.11:1206437:G:A Identity +NM_032135.4:c.91A>G NP_115511.3:p.Ile31Val NC_000014.9:44506896:T:C p.(Ile31Val) NC_000014.9:44506896:T:C p.(Ile31Val) NC_000014.9:44506896:T:C Identity +NM_001168499.2:c.955A>G NP_001161971.1:p.Thr319Ala NC_000018.10:74518636:A:G p.(Thr319Ala) NC_000018.10:74518636:A:G p.(Thr319Ala) NC_000018.10:74518636:A:G Identity +NM_001086.3:c.709A>T NP_001077.2:p.Asn237Tyr NC_000003.12:151827680:A:T p.(Asn237Tyr) NC_000003.12:151827680:A:T p.(Asn237Tyr) NC_000003.12:151827680:A:T Identity +NM_020724.2:c.332C>T NP_065775.1:p.Pro111Leu NC_000004.12:141132476:G:A p.(Pro111Leu) NC_000004.12:141132476:G:A p.(Pro111Leu) NC_000004.12:141132476:G:A Identity +NM_001370549.1:c.1228G>C NP_001357478.1:p.Gly410Arg NC_000017.11:7041794:C:G p.(Gly410Arg) NC_000017.11:7041794:C:G p.(Gly410Arg) NC_000017.11:7041794:C:G Identity +NM_001080527.2:c.5569G>C NP_001073996.1:p.Asp1857His NC_000002.12:127634616:G:C p.(Asp1857His) NC_000002.12:127634616:G:C p.(Asp1857His) NC_000002.12:127634616:G:C Identity +NM_018652.5:c.1187G>A NP_061122.4:p.Arg396Gln NC_000015.10:72662590:G:A p.(Arg396Gln) NC_000015.10:72662590:G:A p.(Arg396Gln) NC_000015.10:72662590:G:A Identity +NM_173593.4:c.1736G>A NP_775864.3:p.Arg579Gln NC_000012.12:553658:G:A p.(Arg579Gln) NC_000012.12:553658:G:A p.(Arg579Gln) NC_000012.12:553658:G:A Identity +NM_018727.5:c.1033G>A NP_061197.4:p.Gly345Arg NC_000017.11:3589817:C:T p.(Gly345Arg) NC_000017.11:3589817:C:T p.(Gly345Arg) NC_000017.11:3589817:C:T Identity +NM_016208.4:c.53C>T NP_057292.1:p.Pro18Leu NC_000008.11:144426192:G:A p.(Pro18Leu) NC_000008.11:144426192:G:A p.(Pro18Leu) NC_000008.11:144426192:G:A Identity +NM_178160.3:c.134C>T NP_835454.1:p.Thr45Met NC_000017.11:74924765:C:T p.(Thr45Met) NC_000017.11:74924765:C:T p.(Thr45Met) NC_000017.11:74924765:C:T Identity +NM_001297605.2:c.385G>A NP_001284534.1:p.Val129Ile NC_000001.11:2559902:G:A p.(Val129Ile) NC_000001.11:2559902:G:A p.(Val129Ile) NC_000001.11:2559902:G:A Identity +NM_002372.4:c.2636C>T NP_002363.2:p.Ala879Val NC_000005.10:109842396:C:T p.(Ala879Val) NC_000005.10:109842396:C:T p.(Ala879Val) NC_000005.10:109842396:C:T Identity +NM_016240.3:c.359A>G NP_057324.2:p.His120Arg NC_000008.11:27658528:A:G p.(His120Arg) NC_000008.11:27658528:A:G p.(His120Arg) NC_000008.11:27658528:A:G Identity +NM_001199163.2:c.938A>G NP_001186092.1:p.Asn313Ser NC_000017.11:63831417:A:G p.(Asn313Ser) NC_000017.11:63831417:A:G p.(Asn313Ser) NC_000017.11:63831417:A:G Identity +NM_001284297.2:c.3292G>A NP_001271226.1:p.Glu1098Lys NC_000015.10:40289321:C:T p.(Glu1098Lys) NC_000015.10:40289321:C:T p.(Glu1098Lys) NC_000015.10:40289321:C:T Identity +NM_001321173.2:c.740G>A NP_001308102.1:p.Arg247Gln NC_000017.11:54930091:G:A p.(Arg247Gln) NC_000017.11:54930091:G:A p.(Arg247Gln) NC_000017.11:54930091:G:A Identity +NM_001011713.3:c.388G>T NP_001011713.2:p.Ala130Ser NC_000014.9:57391344:G:T p.(Ala130Ser) NC_000014.9:57391344:G:T p.(Ala130Ser) NC_000014.9:57391344:G:T Identity +NM_004466.6:c.584G>A NP_004457.1:p.Arg195Gln NC_000013.11:91693444:G:A p.(Arg195Gln) NC_000013.11:91693444:G:A p.(Arg195Gln) NC_000013.11:91693444:G:A Identity +NM_001411089.1:c.2735C>T NP_001398018.1:p.Ala912Val NC_000015.10:43523493:C:T p.(Ala912Val) NC_000015.10:43523493:C:T p.(Ala912Val) NC_000015.10:43523493:C:T Identity +NM_001330520.3:c.3748G>A NP_001317449.1:p.Asp1250Asn NC_000016.10:24804229:G:A p.(Asp1250Asn) NC_000016.10:24804229:G:A p.(Asp1250Asn) NC_000016.10:24804229:G:A Identity +NM_182542.3:c.24A>T NP_872348.2:p.Leu8Phe NC_000013.11:45596981:T:A p.(Leu8Phe) NC_000013.11:45596981:T:A p.(Leu8Phe) NC_000013.11:45596981:T:A Identity +NM_006437.4:c.2497A>G NP_006428.2:p.Ile833Val NC_000013.11:24456405:T:C p.(Ile833Val) NC_000013.11:24456405:T:C p.(Ile833Val) NC_000013.11:24456405:T:C Identity +NM_002562.6:c.707G>A NP_002553.3:p.Arg236Gln NC_000012.12:121166149:G:A p.(Arg236Gln) NC_000012.12:121166149:G:A p.(Arg236Gln) NC_000012.12:121166149:G:A Identity +NM_207410.2:c.745A>G NP_997293.2:p.Thr249Ala NC_000006.12:55358930:A:G p.(Thr249Ala) NC_000006.12:55358930:A:G p.(Thr249Ala) NC_000006.12:55358930:A:G Identity +NM_080283.4:c.4171G>A NP_525022.2:p.Gly1391Ser NC_000017.11:68986200:C:T p.(Gly1391Ser) NC_000017.11:68986200:C:T p.(Gly1391Ser) NC_000017.11:68986200:C:T Identity +NM_001195545.2:c.362C>T NP_001182474.1:p.Ala121Val NC_000017.11:39944267:C:T p.(Ala121Val) NC_000017.11:39944267:C:T p.(Ala121Val) NC_000017.11:39944267:C:T Identity +NM_001058.4:c.563C>T NP_001049.1:p.Pro188Leu NC_000002.12:75120594:G:A p.(Pro188Leu) NC_000002.12:75120594:G:A p.(Pro188Leu) NC_000002.12:75120594:G:A Identity +NM_001142546.4:c.1793A>C NP_001136018.1:p.Lys598Thr NC_000001.11:23092468:T:G p.(Lys598Thr) NC_000001.11:23092468:T:G p.(Lys598Thr) NC_000001.11:23092468:T:G Identity +NM_004441.5:c.2654C>T NP_004432.1:p.Pro885Leu NC_000003.12:135248472:C:T p.(Pro885Leu) NC_000003.12:135248472:C:T p.(Pro885Leu) NC_000003.12:135248472:C:T Identity +NM_001267038.2:c.379C>T NP_001253967.1:p.Arg127Trp NC_000005.10:65529009:G:A p.(Arg127Trp) NC_000005.10:65529009:G:A p.(Arg127Trp) NC_000005.10:65529009:G:A Identity +NM_001136153.2:c.870A>C NP_001129625.1:p.Glu290Asp NC_000006.12:32119910:T:G p.(Glu290Asp) NC_000006.12:32119910:T:G p.(Glu290Asp) NC_000006.12:32119910:T:G Identity +NM_001349436.1:c.765T>G NP_001336365.1:p.Ile255Met NC_000022.11:39086340:T:G p.(Ile255Met) NC_000022.11:39086340:T:G p.(Ile255Met) NC_000022.11:39086340:T:G Identity +NM_002334.4:c.694C>T NP_002325.2:p.Arg232Cys NC_000011.10:46898659:G:A p.(Arg232Cys) NC_000011.10:46898659:G:A p.(Arg232Cys) NC_000011.10:46898659:G:A Identity +NM_001286606.2:c.73G>A NP_001273535.1:p.Gly25Arg NC_000011.10:828679:G:A p.(Gly25Arg) NC_000011.10:828679:G:A p.(Gly25Arg) NC_000011.10:828679:G:A Identity +NM_003128.3:c.6955A>G NP_003119.2:p.Ser2319Gly NC_000002.12:54668428:A:G p.(Ser2319Gly) NC_000002.12:54668428:A:G p.(Ser2319Gly) NC_000002.12:54668428:A:G Identity +NM_173689.7:c.2758G>A NP_775960.4:p.Val920Met NC_000009.12:123373288:G:A p.(Val920Met) NC_000009.12:123373288:G:A p.(Val920Met) NC_000009.12:123373288:G:A Identity +NM_004620.4:c.1258A>C NP_004611.1:p.Ser420Arg NC_000011.10:36490148:T:G p.(Ser420Arg) NC_000011.10:36490148:T:G p.(Ser420Arg) NC_000011.10:36490148:T:G Identity +NM_001104587.2:c.2693G>C NP_001098057.1:p.Trp898Ser NC_000017.11:35352368:C:G p.(Trp898Ser) NC_000017.11:35352368:C:G p.(Trp898Ser) NC_000017.11:35352368:C:G Identity +NM_001143836.3:c.28G>A NP_001137308.2:p.Ala10Thr NC_000011.10:89491218:C:T p.(Ala10Thr) NC_000011.10:89491218:C:T p.(Ala10Thr) NC_000011.10:89491218:C:T Identity +NM_001291876.2:c.2115A>C NP_001278805.2:p.Glu705Asp NC_000010.11:122084614:A:C p.(Glu705Asp) NC_000010.11:122084614:A:C p.(Glu705Asp) NC_000010.11:122084614:A:C Identity +NM_001199022.3:c.1169T>C NP_001185951.2:p.Ile390Thr NC_000016.10:19536837:T:C p.(Ile390Thr) NC_000016.10:19536837:T:C p.(Ile390Thr) NC_000016.10:19536837:T:C Identity +NM_003697.1:c.127C>A NP_003688.1:p.Leu43Ile NC_000011.10:55994498:G:T p.(Leu43Ile) NC_000011.10:55994498:G:T p.(Leu43Ile) NC_000011.10:55994498:G:T Identity +NM_152372.4:c.1966A>C NP_689585.3:p.Thr656Pro NC_000001.11:24084471:T:G p.(Thr656Pro) NC_000001.11:24084471:T:G p.(Thr656Pro) NC_000001.11:24084471:T:G Identity +NM_001146116.2:c.2851G>A NP_001139588.1:p.Val951Met NC_000021.9:46551656:G:A p.(Val951Met) NC_000021.9:46551656:G:A p.(Val951Met) NC_000021.9:46551656:G:A Identity +NM_001128918.3:c.1901G>C NP_001122390.2:p.Arg634Thr NC_000014.9:103500184:G:C p.(Arg634Thr) NC_000014.9:103500184:G:C p.(Arg634Thr) NC_000014.9:103500184:G:C Identity +NM_015230.4:c.3278A>G NP_056045.2:p.His1093Arg NC_000004.12:36133374:T:C p.(His1093Arg) NC_000004.12:36133374:T:C p.(His1093Arg) NC_000004.12:36133374:T:C Identity +NM_001405661.1:c.406G>A NP_001392590.1:p.Gly136Ser NC_000013.11:112810690:G:A p.(Gly136Ser) NC_000013.11:112810690:G:A p.(Gly136Ser) NC_000013.11:112810690:G:A Identity +NM_033395.2:c.2883G>C NP_203753.1:p.Lys961Asn NC_000011.10:93697794:G:C p.(Lys961Asn) NC_000011.10:93697794:G:C p.(Lys961Asn) NC_000011.10:93697794:G:C Identity +NM_017846.5:c.122C>A NP_060316.1:p.Thr41Asn NC_000001.11:28553733:C:A p.(Thr41Asn) NC_000001.11:28553733:C:A p.(Thr41Asn) NC_000001.11:28553733:C:A Identity +NM_001111018.2:c.1160C>T NP_001104488.1:p.Thr387Ile NC_000011.10:19933595:C:T p.(Thr387Ile) NC_000011.10:19933595:C:T p.(Thr387Ile) NC_000011.10:19933595:C:T Identity +NM_001304447.2:c.472C>T NP_001291376.1:p.Arg158Cys NC_000012.12:108206377:C:T p.(Arg158Cys) NC_000012.12:108206377:C:T p.(Arg158Cys) NC_000012.12:108206377:C:T Identity +NM_001122670.2:c.721A>G NP_001116142.1:p.Ile241Val NC_000023.11:72666293:T:C p.(Ile241Val) NC_000023.11:72666293:T:C p.(Ile241Val) NC_000023.11:72666293:T:C Identity +NM_001079870.1:c.1219C>T NP_001073339.1:p.Arg407Trp NC_000017.11:41728205:G:A p.(Arg407Trp) NC_000017.11:41728205:G:A p.(Arg407Trp) NC_000017.11:41728205:G:A Identity +NM_001330482.2:c.556A>G NP_001317411.1:p.Met186Val NC_000019.10:37413624:T:C p.(Met186Val) NC_000019.10:37413624:T:C p.(Met186Val) NC_000019.10:37413624:T:C Identity +NM_001168335.2:c.1190G>A NP_001161807.1:p.Arg397His NC_000018.10:50925773:G:A p.(Arg397His) NC_000018.10:50925773:G:A p.(Arg397His) NC_000018.10:50925773:G:A Identity +NM_003486.7:c.151A>G NP_003477.4:p.Thr51Ala NC_000016.10:87869271:T:C p.(Thr51Ala) NC_000016.10:87869271:T:C p.(Thr51Ala) NC_000016.10:87869271:T:C Identity +NM_001370401.1:c.554C>T NP_001357330.1:p.Ser185Leu NC_000016.10:426559:C:T p.(Ser185Leu) NC_000016.10:426559:C:T p.(Ser185Leu) NC_000016.10:426559:C:T Identity +NM_001324511.2:c.89C>A NP_001311440.1:p.Pro30His NC_000005.10:33891767:G:T p.(Pro30His) NC_000005.10:33891767:G:T p.(Pro30His) NC_000005.10:33891767:G:T Identity +NM_001321120.2:c.772C>T NP_001308049.1:p.Arg258Cys NC_000017.11:61479949:C:T p.(Arg258Cys) NC_000017.11:61479949:C:T p.(Arg258Cys) NC_000017.11:61479949:C:T Identity +NM_001143940.2:c.577G>A NP_001137412.1:p.Glu193Lys NC_000006.12:63280552:C:T p.(Glu193Lys) NC_000006.12:63280552:C:T p.(Glu193Lys) NC_000006.12:63280552:C:T Identity +NM_014643.4:c.1823G>A NP_055458.1:p.Arg608His NC_000018.10:76380290:C:T p.(Arg608His) NC_000018.10:76380290:C:T p.(Arg608His) NC_000018.10:76380290:C:T Identity +NM_001351115.2:c.1220T>G NP_001338044.1:p.Met407Arg NC_000010.11:18546119:A:C p.(Met407Arg) NC_000010.11:18546119:A:C p.(Met407Arg) NC_000010.11:18546119:A:C Identity +NM_006910.5:c.2476C>T NP_008841.2:p.Arg826Cys NC_000016.10:24569165:C:T p.(Arg826Cys) NC_000016.10:24569165:C:T p.(Arg826Cys) NC_000016.10:24569165:C:T Identity +NM_005865.4:c.1267G>T NP_005856.1:p.Ala423Ser NC_000006.12:27254808:G:T p.(Ala423Ser) NC_000006.12:27254808:G:T p.(Ala423Ser) NC_000006.12:27254808:G:T Identity +NM_001031855.3:c.2104G>A NP_001027026.1:p.Glu702Lys NC_000023.11:119014335:G:A p.(Glu702Lys) NC_000023.11:119014335:G:A p.(Glu702Lys) NC_000023.11:119014335:G:A Identity +NM_139248.3:c.1262C>T NP_640341.1:p.Pro421Leu NC_000003.12:185511529:G:A p.(Pro421Leu) NC_000003.12:185511529:G:A p.(Pro421Leu) NC_000003.12:185511529:G:A Identity +NM_148962.5:c.359G>A NP_683765.2:p.Arg120His NC_000002.12:42763703:C:T p.(Arg120His) NC_000002.12:42763703:C:T p.(Arg120His) NC_000002.12:42763703:C:T Identity +NM_004482.4:c.191A>T NP_004473.2:p.Asp64Val NC_000002.12:165770509:T:A p.(Asp64Val) NC_000002.12:165770509:T:A p.(Asp64Val) NC_000002.12:165770509:T:A Identity +NM_001018037.2:c.4039C>T NP_001018047.1:p.Arg1347Cys NC_000009.12:77314032:C:T p.(Arg1347Cys) NC_000009.12:77314032:C:T p.(Arg1347Cys) NC_000009.12:77314032:C:T Identity +NM_001074.4:c.256T>A NP_001065.2:p.Leu86Met NC_000004.12:69096775:T:A p.(Leu86Met) NC_000004.12:69096775:T:A p.(Leu86Met) NC_000004.12:69096775:T:A Identity +NM_001346445.2:c.499C>T NP_001333374.1:p.Arg167Trp NC_000011.10:62533917:G:A p.(Arg167Trp) NC_000011.10:62533917:G:A p.(Arg167Trp) NC_000011.10:62533917:G:A Identity +NM_001410778.1:c.919G>A NP_001397707.1:p.Glu307Lys NC_000003.12:89341019:G:A p.(Glu307Lys) NC_000003.12:89341019:G:A p.(Glu307Lys) NC_000003.12:89341019:G:A Identity +NM_001301860.2:c.1943G>A NP_001288789.1:p.Gly648Asp NC_000020.11:41357175:G:A p.(Gly648Asp) NC_000020.11:41357175:G:A p.(Gly648Asp) NC_000020.11:41357175:G:A Identity +NM_001083900.1:c.9377C>T NP_001077369.1:p.Thr3126Met NC_000012.12:123903028:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001300865.2:c.1124A>G NP_001287794.1:p.Gln375Arg NC_000019.10:5918625:T:C p.(Gln375Arg) NC_000019.10:5918625:T:C p.(Gln375Arg) NC_000019.10:5918625:T:C Identity +NM_001303279.2:c.2236C>T NP_001290208.1:p.Arg746Cys NC_000017.11:32659223:G:A p.(Arg746Cys) NC_000017.11:32659223:G:A p.(Arg746Cys) NC_000017.11:32659223:G:A Identity +NM_001145670.2:c.1621G>A NP_001139142.1:p.Val541Ile NC_000004.12:185611874:C:T p.(Val541Ile) NC_000004.12:185611874:C:T p.(Val541Ile) NC_000004.12:185611874:C:T Identity +NM_005320.3:c.458A>G NP_005311.1:p.Lys153Arg NC_000006.12:26234475:T:C p.(Lys153Arg) NC_000006.12:26234475:T:C p.(Lys153Arg) NC_000006.12:26234475:T:C Identity +NM_005021.5:c.1220G>A NP_005012.2:p.Arg407Gln NC_000006.12:131685462:G:A p.(Arg407Gln) NC_000006.12:131685462:G:A p.(Arg407Gln) NC_000006.12:131685462:G:A Identity +NM_004225.3:c.2830G>A NP_004216.2:p.Ala944Thr NC_000008.11:8890228:C:T p.(Ala944Thr) NC_000008.11:8890228:C:T p.(Ala944Thr) NC_000008.11:8890228:C:T Identity +NM_017581.4:c.1096G>C NP_060051.2:p.Glu366Gln NC_000004.12:40354175:G:C p.(Glu366Gln) NC_000004.12:40354175:G:C p.(Glu366Gln) NC_000004.12:40354175:G:C Identity +NM_001291504.2:c.343C>T NP_001278433.1:p.Arg115Trp NC_000003.12:195523751:G:A p.(Arg115Trp) NC_000003.12:195523751:G:A p.(Arg115Trp) NC_000003.12:195523751:G:A Identity +NM_001002292.4:c.104T>C NP_001002292.3:p.Ile35Thr NC_000001.11:68232195:A:G p.(Ile35Thr) NC_000001.11:68232195:A:G p.(Ile35Thr) NC_000001.11:68232195:A:G Identity +NM_001318134.2:c.2365C>G NP_001305063.1:p.Pro789Ala NC_000004.12:867225:G:C p.(Pro789Ala) NC_000004.12:867225:G:C p.(Pro789Ala) NC_000004.12:867225:G:C Identity +NM_001301101.2:c.214G>A NP_001288030.1:p.Asp72Asn NC_000015.10:75043518:G:A p.(Asp72Asn) NC_000015.10:75043518:G:A p.(Asp72Asn) NC_000015.10:75043518:G:A Identity +NM_015323.5:c.26G>C NP_056138.1:p.Arg9Thr NC_000006.12:96521898:G:C p.(Arg9Thr) NC_000006.12:96521898:G:C p.(Arg9Thr) NC_000006.12:96521898:G:C Identity +NM_001281748.3:c.1223G>A NP_001268677.1:p.Arg408His NC_000011.10:116873517:C:T p.(Arg408His) NC_000011.10:116873517:C:T p.(Arg408His) NC_000011.10:116873517:C:T Identity +NM_001143830.3:c.487C>A NP_001137302.1:p.Pro163Thr NC_000011.10:22749132:C:A p.(Pro163Thr) NC_000011.10:22749132:C:A p.(Pro163Thr) NC_000011.10:22749132:C:A Identity +NM_001282962.2:c.698C>T NP_001269891.1:p.Thr233Met NC_000002.12:233841919:G:A p.(Thr233Met) NC_000002.12:233841919:G:A p.(Thr233Met) NC_000002.12:233841919:G:A Identity +NM_001308112.2:c.208G>A NP_001295041.1:p.Val70Ile NC_000014.9:44945762:C:T p.(Val70Ile) NC_000014.9:44945762:C:T p.(Val70Ile) NC_000014.9:44945762:C:T Identity +NM_001386014.1:c.1079T>A NP_001372943.1:p.Leu360Gln NC_000017.11:41378973:A:T p.(Leu360Gln) NC_000017.11:41378973:A:T p.(Leu360Gln) NC_000017.11:41378973:A:T Identity +NM_024747.6:c.1437G>C NP_079023.2:p.Glu479Asp NC_000010.11:102066910:G:C p.(Glu479Asp) NC_000010.11:102066910:G:C p.(Glu479Asp) NC_000010.11:102066910:G:C Identity +NM_020340.5:c.1406G>A NP_065073.3:p.Arg469Gln NC_000006.12:138262888:G:A p.(Arg469Gln) NC_000006.12:138262888:G:A p.(Arg469Gln) NC_000006.12:138262888:G:A Identity +NM_001303105.2:c.616C>A NP_001290034.1:p.Gln206Lys NC_000002.12:108798466:C:A p.(Gln206Lys) NC_000002.12:108798466:C:A p.(Gln206Lys) NC_000002.12:108798466:C:A Identity +NM_012291.5:c.3122G>T NP_036423.4:p.Arg1041Leu NC_000012.12:53284101:G:T p.(Arg1041Leu) NC_000012.12:53284101:G:T p.(Arg1041Leu) NC_000012.12:53284101:G:T Identity +NM_017916.3:c.503G>A NP_060386.1:p.Arg168Gln NC_000019.10:49447445:C:T p.(Arg168Gln) NC_000019.10:49447445:C:T p.(Arg168Gln) NC_000019.10:49447445:C:T Identity +NM_022842.5:c.907G>A NP_073753.3:p.Gly303Arg NC_000003.12:45110589:C:T p.(Gly303Arg) NC_000003.12:45110589:C:T p.(Gly303Arg) NC_000003.12:45110589:C:T Identity +NM_001172623.2:c.44C>A NP_001166094.1:p.Ser15Tyr NC_000015.10:73052718:C:A p.(Ser15Tyr) NC_000015.10:73052718:C:A p.(Ser15Tyr) NC_000015.10:73052718:C:A Identity +NM_014698.3:c.761C>T NP_055513.2:p.Thr254Met NC_000001.11:225862836:G:A p.(Thr254Met) NC_000001.11:225862836:G:A p.(Thr254Met) NC_000001.11:225862836:G:A Identity +NM_001286242.2:c.121C>T NP_001273171.1:p.Pro41Ser NC_000016.10:27549769:G:A p.(Pro41Ser) NC_000016.10:27549769:G:A p.(Pro41Ser) NC_000016.10:27549769:G:A Identity +NM_006511.3:c.347G>A NP_006502.1:p.Arg116Lys NC_000001.11:15660214:G:A p.(Arg116Lys) NC_000001.11:15660214:G:A p.(Arg116Lys) NC_000001.11:15660214:G:A Identity +NM_001330725.2:c.704C>T NP_001317654.1:p.Ala235Val NC_000009.12:97904916:G:A p.(Ala235Val) NC_000009.12:97904916:G:A p.(Ala235Val) NC_000009.12:97904916:G:A Identity +NM_001286639.2:c.116C>G NP_001273568.1:p.Pro39Arg NC_000016.10:77191600:C:G p.(Pro39Arg) NC_000016.10:77191600:C:G p.(Pro39Arg) NC_000016.10:77191600:C:G Identity +NM_001084.5:c.857G>A NP_001075.1:p.Arg286Gln NC_000007.14:101212863:C:T p.(Arg286Gln) NC_000007.14:101212863:C:T p.(Arg286Gln) NC_000007.14:101212863:C:T Identity +NM_001317939.2:c.95G>C NP_001304868.1:p.Cys32Ser NC_000009.12:16727905:C:G p.(Cys32Ser) NC_000009.12:16727905:C:G p.(Cys32Ser) NC_000009.12:16727905:C:G Identity +NM_001319035.2:c.139T>G NP_001305964.1:p.Leu47Val NC_000014.9:20408300:A:C p.(Leu47Val) NC_000014.9:20408300:A:C p.(Leu47Val) NC_000014.9:20408300:A:C Identity +NM_018397.5:c.709C>T NP_060867.2:p.Arg237Trp NC_000003.12:53822636:G:A p.(Arg237Trp) NC_000003.12:53822636:G:A p.(Arg237Trp) NC_000003.12:53822636:G:A Identity +NM_001305424.2:c.1289A>G NP_001292353.1:p.Asn430Ser NC_000001.11:240093397:A:G p.(Asn430Ser) NC_000001.11:240093397:A:G p.(Asn430Ser) NC_000001.11:240093397:A:G Identity +NM_001281771.3:c.1349C>T NP_001268700.1:p.Thr450Met NC_000020.11:47276369:G:A p.(Thr450Met) NC_000020.11:47276369:G:A p.(Thr450Met) NC_000020.11:47276369:G:A Identity +NM_018912.3:c.1706C>A NP_061735.1:p.Thr569Lys NC_000005.10:141332389:C:A p.(Thr569Lys) NC_000005.10:141332389:C:A p.(Thr569Lys) NC_000005.10:141332389:C:A Identity +NM_006943.4:c.490G>T NP_008874.2:p.Asp164Tyr NC_000020.11:326413:G:T p.(Asp164Tyr) NC_000020.11:326413:G:T p.(Asp164Tyr) NC_000020.11:326413:G:T Identity +NM_001168235.2:c.896G>C NP_001161707.1:p.Gly299Ala NC_000004.12:143699779:C:G p.(Gly299Ala) NC_000004.12:143699779:C:G p.(Gly299Ala) NC_000004.12:143699779:C:G Identity +NM_001330221.2:c.1003C>T NP_001317150.1:p.Pro335Ser NC_000014.9:100137621:C:T p.(Pro335Ser) NC_000014.9:100137621:C:T p.(Pro335Ser) NC_000014.9:100137621:C:T Identity +NM_001083961.2:c.152C>A NP_001077430.1:p.Ala51Asp NC_000019.10:36055122:C:A p.(Ala51Asp) NC_000019.10:36055122:C:A p.(Ala51Asp) NC_000019.10:36055122:C:A Identity +NM_003735.3:c.1585C>G NP_003726.1:p.Gln529Glu NC_000005.10:141432343:C:G p.(Gln529Glu) NC_000005.10:141432343:C:G p.(Gln529Glu) NC_000005.10:141432343:C:G Identity +NM_001004297.3:c.229A>G NP_001004297.2:p.Met77Val NC_000010.11:45304193:T:C p.(Met77Val) NC_000010.11:45304193:T:C p.(Met77Val) NC_000010.11:45304193:T:C Identity +NM_018917.4:c.100G>A NP_061740.2:p.Ala34Thr NC_000005.10:141355206:G:A p.(Ala34Thr) NC_000005.10:141355206:G:A p.(Ala34Thr) NC_000005.10:141355206:G:A Identity +NM_007365.3:c.64G>T NP_031391.2:p.Gly22Cys NC_000001.11:17119307:C:A p.(Gly22Cys) NC_000001.11:17119307:C:A p.(Gly22Cys) NC_000001.11:17119307:C:A Identity +NM_001004475.1:c.287T>A NP_001004475.1:p.Met96Lys NC_000001.11:158399179:A:T p.(Met96Lys) NC_000001.11:158399179:A:T p.(Met96Lys) NC_000001.11:158399179:A:T Identity +NM_001005408.2:c.3116G>A NP_001005408.1:p.Arg1039His NC_000017.11:7321436:C:T p.(Arg1039His) NC_000017.11:7321436:C:T p.(Arg1039His) NC_000017.11:7321436:C:T Identity +NM_014813.3:c.143C>T NP_055628.1:p.Ser48Phe NC_000001.11:113073548:C:T p.(Ser48Phe) NC_000001.11:113073548:C:T p.(Ser48Phe) NC_000001.11:113073548:C:T Identity +NM_001318043.2:c.158G>C NP_001304972.1:p.Arg53Pro NC_000020.11:18596028:G:C p.(Arg53Pro) NC_000020.11:18596028:G:C p.(Arg53Pro) NC_000020.11:18596028:G:C Identity +NM_173566.3:c.2146A>G NP_775837.2:p.Ile716Val NC_000022.11:31715692:T:C p.(Ile716Val) NC_000022.11:31715692:T:C p.(Ile716Val) NC_000022.11:31715692:T:C Identity +NM_003007.5:c.696T>A NP_002998.1:p.Ser232Arg NC_000020.11:45207992:T:A p.(Ser232Arg) NC_000020.11:45207992:T:A p.(Ser232Arg) NC_000020.11:45207992:T:A Identity +NM_001031717.4:c.433G>A NP_001026887.2:p.Ala145Thr NC_000003.12:9938078:G:A p.(Ala145Thr) NC_000003.12:9938078:G:A p.(Ala145Thr) NC_000003.12:9938078:G:A Identity +NM_001301072.2:c.139T>G NP_001288001.2:p.Cys47Gly NC_000006.12:160992069:T:G p.(Cys47Gly) NC_000006.12:160992069:T:G p.(Cys47Gly) NC_000006.12:160992069:T:G Identity +NM_174937.4:c.1647G>C NP_777597.2:p.Gln549His NC_000010.11:131093275:C:G p.(Gln549His) NC_000010.11:131093275:C:G p.(Gln549His) NC_000010.11:131093275:C:G Identity +NM_057749.3:c.306G>T NP_477097.1:p.Leu102Phe NC_000008.11:94892828:C:A p.(Leu102Phe) NC_000008.11:94892828:C:A p.(Leu102Phe) NC_000008.11:94892828:C:A Identity +NM_001007089.4:c.23G>A NP_001007090.3:p.Gly8Glu NC_000002.12:219332732:C:T p.(Gly8Glu) NC_000002.12:219332732:C:T p.(Gly8Glu) NC_000002.12:219332732:C:T Identity +NM_001102469.2:c.999A>C NP_001095939.1:p.Lys333Asn NC_000010.11:88778043:A:C p.(Lys333Asn) NC_000010.11:88778043:A:C p.(Lys333Asn) NC_000010.11:88778043:A:C Identity +NM_002430.3:c.31G>A NP_002421.3:p.Val11Ile NC_000022.11:27800512:C:T p.(Val11Ile) NC_000022.11:27800512:C:T p.(Val11Ile) NC_000022.11:27800512:C:T Identity +NM_001370561.1:c.143A>G NP_001357490.1:p.Lys48Arg NC_000015.10:56243142:T:C p.(Lys48Arg) NC_000015.10:56243142:T:C p.(Lys48Arg) NC_000015.10:56243142:T:C Identity +NM_006811.4:c.1189G>A NP_006802.1:p.Glu397Lys NC_000020.11:44501166:C:T p.(Glu397Lys) NC_000020.11:44501166:C:T p.(Glu397Lys) NC_000020.11:44501166:C:T Identity +NM_003802.3:c.2560G>T NP_003793.2:p.Ala854Ser NC_000017.11:10327996:C:A p.(Ala854Ser) NC_000017.11:10327996:C:A p.(Ala854Ser) NC_000017.11:10327996:C:A Identity +NM_001318015.2:c.875G>T NP_001304944.2:p.Arg292Leu NC_000009.12:128721274:C:A p.(Arg292Leu) NC_000009.12:128721274:C:A p.(Arg292Leu) NC_000009.12:128721274:C:A Identity +NM_001260486.2:c.5C>T NP_001247415.2:p.Thr2Ile NC_000019.10:43988547:C:T p.(Thr2Ile) NC_000019.10:43988547:C:T p.(Thr2Ile) NC_000019.10:43988547:C:T Identity +NM_145168.3:c.425A>G NP_660151.2:p.Tyr142Cys NC_000016.10:81999867:T:C p.(Tyr142Cys) NC_000016.10:81999867:T:C p.(Tyr142Cys) NC_000016.10:81999867:T:C Identity +NM_030809.3:c.170G>A NP_110436.1:p.Arg57Gln NC_000012.12:51074063:C:T p.(Arg57Gln) NC_000012.12:51074063:C:T p.(Arg57Gln) NC_000012.12:51074063:C:T Identity +NM_001080437.3:c.1801G>A NP_001073906.1:p.Glu601Lys NC_000002.12:241051808:G:A p.(Glu601Lys) NC_000002.12:241051808:G:A p.(Glu601Lys) NC_000002.12:241051808:G:A Identity +NM_001146314.2:c.250A>G NP_001139786.1:p.Ile84Val NC_000003.12:51970145:T:C p.(Ile84Val) NC_000003.12:51970145:T:C p.(Ile84Val) NC_000003.12:51970145:T:C Identity +NM_001330004.2:c.533C>T NP_001316933.1:p.Ala178Val NC_000002.12:227903038:C:T p.(Ala178Val) NC_000002.12:227903038:C:T p.(Ala178Val) NC_000002.12:227903038:C:T Identity +NM_014471.3:c.212G>A NP_055286.1:p.Arg71Gln NC_000009.12:33246724:G:A p.(Arg71Gln) NC_000009.12:33246724:G:A p.(Arg71Gln) NC_000009.12:33246724:G:A Identity +NM_002440.4:c.2585A>G NP_002431.2:p.Lys862Arg NC_000001.11:75899671:A:G p.(Lys862Arg) NC_000001.11:75899671:A:G p.(Lys862Arg) NC_000001.11:75899671:A:G Identity +NM_001145434.2:c.1701C>A NP_001138906.1:p.His567Gln NC_000019.10:52385280:C:A p.(His567Gln) NC_000019.10:52385280:C:A p.(His567Gln) NC_000019.10:52385280:C:A Identity +NM_001004725.1:c.674G>A NP_001004725.1:p.Ser225Asn NC_000011.10:48306895:G:A p.(Ser225Asn) NC_000011.10:48306895:G:A p.(Ser225Asn) NC_000011.10:48306895:G:A Identity +NM_001098816.3:c.4111C>A NP_001092286.2:p.Arg1371Ser NC_000011.10:78708458:G:T p.(Arg1371Ser) NC_000011.10:78708458:G:T p.(Arg1371Ser) NC_000011.10:78708458:G:T Identity +NM_001330575.2:c.974G>C NP_001317504.1:p.Gly325Ala NC_000008.11:90051889:G:C p.(Gly325Ala) NC_000008.11:90051889:G:C p.(Gly325Ala) NC_000008.11:90051889:G:C Identity +NM_021259.3:c.23C>T NP_067082.2:p.Thr8Ile NC_000016.10:381798:G:A p.(Thr8Ile) NC_000016.10:381798:G:A p.(Thr8Ile) NC_000016.10:381798:G:A Identity +NM_032283.3:c.185T>A NP_115659.1:p.Leu62His NC_000001.11:26826988:T:A p.(Leu62His) NC_000001.11:26826988:T:A p.(Leu62His) NC_000001.11:26826988:T:A Identity +NM_001075.6:c.1570A>G NP_001066.1:p.Lys524Glu NC_000004.12:68830861:A:G p.(Lys524Glu) NC_000004.12:68830861:A:G p.(Lys524Glu) NC_000004.12:68830861:A:G Identity +NM_014344.4:c.338A>C NP_055159.2:p.Glu113Ala NC_000011.10:35618973:A:C p.(Glu113Ala) NC_000011.10:35618973:A:C p.(Glu113Ala) NC_000011.10:35618973:A:C Identity +NM_001167738.2:c.1036G>C NP_001161210.1:p.Glu346Gln NC_000001.11:201782720:G:C p.(Glu346Gln) NC_000001.11:201782720:G:C p.(Glu346Gln) NC_000001.11:201782720:G:C Identity +NM_001271534.3:c.2372C>T NP_001258463.1:p.Thr791Ile NC_000021.9:40189222:G:A p.(Thr791Ile) NC_000021.9:40189222:G:A p.(Thr791Ile) NC_000021.9:40189222:G:A Identity +NM_001318024.2:c.880G>A NP_001304953.1:p.Glu294Lys NC_000022.11:37312112:G:A p.(Glu294Lys) NC_000022.11:37312112:G:A p.(Glu294Lys) NC_000022.11:37312112:G:A Identity +NM_001322810.2:c.124G>A NP_001309739.1:p.Glu42Lys NC_000008.11:25243753:G:A p.(Glu42Lys) NC_000008.11:25243753:G:A p.(Glu42Lys) NC_000008.11:25243753:G:A Identity +NM_080725.3:c.41C>G NP_542763.1:p.Ala14Gly NC_000020.11:653144:G:C p.(Ala14Gly) NC_000020.11:653144:G:C p.(Ala14Gly) NC_000020.11:653144:G:C Identity +NM_152484.3:c.333A>C NP_689697.2:p.Lys111Asn NC_000019.10:37414324:T:G p.(Lys111Asn) NC_000019.10:37414324:T:G p.(Lys111Asn) NC_000019.10:37414324:T:G Identity +NM_001194.4:c.2359C>T NP_001185.3:p.Pro787Ser NC_000019.10:616162:C:T p.(Pro787Ser) NC_000019.10:616162:C:T p.(Pro787Ser) NC_000019.10:616162:C:T Identity +NM_001099781.2:c.220G>A NP_001093251.1:p.Ala74Thr NC_000022.11:24233957:C:T p.(Ala74Thr) NC_000022.11:24233957:C:T p.(Ala74Thr) NC_000022.11:24233957:C:T Identity +NM_001130099.1:c.439G>A NP_001123571.1:p.Val147Met NC_000016.10:57770609:C:T p.(Val147Met) NC_000016.10:57770609:C:T p.(Val147Met) NC_000016.10:57770609:C:T Identity +NM_001042734.4:c.554T>C NP_001036199.1:p.Met185Thr NC_000004.12:109463320:T:C p.(Met185Thr) NC_000004.12:109463320:T:C p.(Met185Thr) NC_000004.12:109463320:T:C Identity +NM_001099439.2:c.1328C>T NP_001092909.1:p.Ala443Val NC_000001.11:37752904:G:A p.(Ala443Val) NC_000001.11:37752904:G:A p.(Ala443Val) NC_000001.11:37752904:G:A Identity +NM_017829.6:c.1070G>A NP_060299.4:p.Gly357Glu NC_000022.11:17138132:C:T p.(Gly357Glu) NC_000022.11:17138132:C:T p.(Gly357Glu) NC_000022.11:17138132:C:T Identity +NM_001281771.3:c.1493C>T NP_001268700.1:p.Thr498Met NC_000020.11:47262340:G:A p.(Thr498Met) NC_000020.11:47262340:G:A p.(Thr498Met) NC_000020.11:47262340:G:A Identity +NM_001284230.2:c.107A>C NP_001271159.1:p.Glu36Ala NC_000014.9:70809064:T:G p.(Glu36Ala) NC_000014.9:70809064:T:G p.(Glu36Ala) NC_000014.9:70809064:T:G Identity +NM_001271620.2:c.3653C>A NP_001258549.1:p.Thr1218Lys NC_000016.10:49491296:G:T p.(Thr1218Lys) NC_000016.10:49491296:G:T p.(Thr1218Lys) NC_000016.10:49491296:G:T Identity +NM_001353686.2:c.2668A>C NP_001340615.1:p.Lys890Gln NC_000021.9:31182639:T:G p.(Lys890Gln) NC_000021.9:31182639:T:G p.(Lys890Gln) NC_000021.9:31182639:T:G Identity +NM_001135175.2:c.457C>T NP_001128647.1:p.His153Tyr NC_000012.12:96920071:C:T p.(His153Tyr) NC_000012.12:96920071:C:T p.(His153Tyr) NC_000012.12:96920071:C:T Identity +NM_145290.4:c.650C>T NP_660333.2:p.Pro217Leu NC_000004.12:22445028:G:A p.(Pro217Leu) NC_000004.12:22445028:G:A p.(Pro217Leu) NC_000004.12:22445028:G:A Identity +NM_001167985.2:c.187C>A NP_001161457.1:p.Pro63Thr NC_000017.11:4989900:G:T p.(Pro63Thr) NC_000017.11:4989900:G:T p.(Pro63Thr) NC_000017.11:4989900:G:T Identity +NM_001242631.3:c.108C>G NP_001229560.1:p.Asp36Glu NC_000011.10:65088923:G:C p.(Asp36Glu) NC_000011.10:65088923:G:C p.(Asp36Glu) NC_000011.10:65088923:G:C Identity +NM_001170779.3:c.60C>A NP_001164250.1:p.Asp20Glu NC_000023.11:134807657:C:A p.(Asp20Glu) NC_000023.11:134807657:C:A p.(Asp20Glu) NC_000023.11:134807657:C:A Identity +NM_020928.2:c.449G>C NP_065979.1:p.Gly150Ala NC_000005.10:61332720:G:C p.(Gly150Ala) NC_000005.10:61332720:G:C p.(Gly150Ala) NC_000005.10:61332720:G:C Identity +NM_012281.3:c.716T>G NP_036413.1:p.Ile239Ser NC_000007.14:120275347:T:G p.(Ile239Ser) NC_000007.14:120275347:T:G p.(Ile239Ser) NC_000007.14:120275347:T:G Identity +NM_013938.2:c.227T>C NP_039226.1:p.Val76Ala NC_000019.10:15741618:T:C p.(Val76Ala) NC_000019.10:15741618:T:C p.(Val76Ala) NC_000019.10:15741618:T:C Identity +NM_014891.7:c.388G>T NP_055706.1:p.Ala130Ser NC_000007.14:99397960:C:A p.(Ala130Ser) NC_000007.14:99397960:C:A p.(Ala130Ser) NC_000007.14:99397960:C:A Identity +NM_001005920.4:c.363C>A NP_001005920.3:p.His121Gln NC_000016.10:683557:G:T p.(His121Gln) NC_000016.10:683557:G:T p.(His121Gln) NC_000016.10:683557:G:T Identity +NM_015656.2:c.4556C>T NP_056471.1:p.Thr1519Met NC_000014.9:104177343:C:T p.(Thr1519Met) NC_000014.9:104177343:C:T p.(Thr1519Met) NC_000014.9:104177343:C:T Identity +NM_000565.4:c.1261A>C NP_000556.1:p.Thr421Pro NC_000001.11:154465233:A:C p.(Thr421Pro) NC_000001.11:154465233:A:C p.(Thr421Pro) NC_000001.11:154465233:A:C Identity +NM_000967.4:c.127C>T NP_000958.1:p.Leu43Phe NC_000022.11:39318468:G:A p.(Leu43Phe) NC_000022.11:39318468:G:A p.(Leu43Phe) NC_000022.11:39318468:G:A Identity +NM_001414174.1:c.4757G>A NP_001401103.1:p.Arg1586His NC_000012.12:26561822:C:T p.(Arg1586His) NC_000012.12:26561822:C:T p.(Arg1586His) NC_000012.12:26561822:C:T Identity +NM_001410985.1:c.1937G>A NP_001397914.1:p.Arg646Gln NC_000002.12:206589492:G:A p.(Arg646Gln) NC_000002.12:206589492:G:A p.(Arg646Gln) NC_000002.12:206589492:G:A Identity +NM_001007527.2:c.1145G>A NP_001007528.1:p.Arg382Gln NC_000005.10:36117891:C:T p.(Arg382Gln) NC_000005.10:36117891:C:T p.(Arg382Gln) NC_000005.10:36117891:C:T Identity +NM_001242844.2:c.1064T>G NP_001229773.1:p.Val355Gly NC_000006.12:127287679:T:G p.(Val355Gly) NC_000006.12:127287679:T:G p.(Val355Gly) NC_000006.12:127287679:T:G Identity +NM_001018073.3:c.1054G>A NP_001018083.2:p.Gly352Arg NC_000014.9:24100032:G:A p.(Gly352Arg) NC_000014.9:24100032:G:A p.(Gly352Arg) NC_000014.9:24100032:G:A Identity +NM_001270890.2:c.2585G>A NP_001257819.1:p.Arg862His NC_000009.12:19058076:C:T p.(Arg862His) NC_000009.12:19058076:C:T p.(Arg862His) NC_000009.12:19058076:C:T Identity +NM_001195833.2:c.277G>A NP_001182762.1:p.Glu93Lys NC_000019.10:38873921:C:T p.(Glu93Lys) NC_000019.10:38873921:C:T p.(Glu93Lys) NC_000019.10:38873921:C:T Identity +NM_001242805.2:c.713A>T NP_001229734.2:p.Lys238Ile NC_000001.11:91977136:A:T p.(Lys238Ile) NC_000001.11:91977136:A:T p.(Lys238Ile) NC_000001.11:91977136:A:T Identity +NM_001272073.2:c.2024T>C NP_001259002.1:p.Met675Thr NC_000003.12:49098379:A:G p.(Met675Thr) NC_000003.12:49098379:A:G p.(Met675Thr) NC_000003.12:49098379:A:G Identity +NM_178140.4:c.6474G>A NP_835260.2:p.Met2158Ile NC_000005.10:32089921:G:A p.(Met2158Ile) NC_000005.10:32089921:G:A p.(Met2158Ile) NC_000005.10:32089921:G:A Identity +NM_001198773.3:c.2347C>T NP_001185702.1:p.Arg783Trp NC_000001.11:151292910:G:A p.(Arg783Trp) NC_000001.11:151292910:G:A p.(Arg783Trp) NC_000001.11:151292910:G:A Identity +NM_001284356.2:c.512G>T NP_001271285.1:p.Ser171Ile NC_000008.11:10765798:C:A p.(Ser171Ile) NC_000008.11:10765798:C:A p.(Ser171Ile) NC_000008.11:10765798:C:A Identity +NM_001410846.1:c.1787C>T NP_001397775.1:p.Thr596Met NC_000020.11:48976030:C:T p.(Thr596Met) NC_000020.11:48976030:C:T p.(Thr596Met) NC_000020.11:48976030:C:T Identity +NM_001178020.3:c.314G>A NP_001171491.1:p.Arg105His NC_000016.10:66477583:G:A p.(Arg105His) NC_000016.10:66477583:G:A p.(Arg105His) NC_000016.10:66477583:G:A Identity +NM_001304509.2:c.97G>A NP_001291438.1:p.Ala33Thr NC_000009.12:113374257:C:T p.(Ala33Thr) NC_000009.12:113374257:C:T p.(Ala33Thr) NC_000009.12:113374257:C:T Identity +NM_001008563.5:c.1129A>G NP_001008563.2:p.Thr377Ala NC_000009.12:129868442:A:G p.(Thr377Ala) NC_000009.12:129868442:A:G p.(Thr377Ala) NC_000009.12:129868442:A:G Identity +NM_002843.4:c.2164A>G NP_002834.3:p.Met722Val NC_000011.10:48139496:A:G p.(Met722Val) NC_000011.10:48139496:A:G p.(Met722Val) NC_000011.10:48139496:A:G Identity +NM_001083947.2:c.670G>A NP_001077416.2:p.Val224Ile NC_000011.10:118111841:G:A p.(Val224Ile) NC_000011.10:118111841:G:A p.(Val224Ile) NC_000011.10:118111841:G:A Identity +NM_001304526.2:c.523C>T NP_001291455.1:p.Arg175Trp NC_000002.12:88028040:G:A p.(Arg175Trp) NC_000002.12:88028040:G:A p.(Arg175Trp) NC_000002.12:88028040:G:A Identity +NM_014597.5:c.1375G>A NP_055412.2:p.Glu459Lys NC_000001.11:93876559:C:T p.(Glu459Lys) NC_000001.11:93876559:C:T p.(Glu459Lys) NC_000001.11:93876559:C:T Identity +NM_001004729.2:c.56C>T NP_001004729.1:p.Ser19Leu NC_000011.10:59364513:C:T p.(Ser19Leu) NC_000011.10:59364513:C:T p.(Ser19Leu) NC_000011.10:59364513:C:T Identity +NM_001195296.2:c.23T>A NP_001182225.1:p.Ile8Lys NC_000014.9:37266940:T:A p.(Ile8Lys) NC_000014.9:37266940:T:A p.(Ile8Lys) NC_000014.9:37266940:T:A Identity +NM_018909.4:c.346G>T NP_061732.1:p.Val116Phe NC_000005.10:140828436:G:T p.(Val116Phe) NC_000005.10:140828436:G:T p.(Val116Phe) NC_000005.10:140828436:G:T Identity +NM_000076.2:c.527C>T NP_000067.1:p.Ala176Val NC_000011.10:2884962:G:A p.(Ala176Val) NC_000011.10:2884962:G:A p.(Ala176Val) NC_000011.10:2884962:G:A Identity +NM_032880.5:c.1162G>C NP_116269.3:p.Gly388Arg NC_000001.11:18376859:G:C p.(Gly388Arg) NC_000001.11:18376859:G:C p.(Gly388Arg) NC_000001.11:18376859:G:C Identity +NM_001144990.2:c.3171C>A NP_001138462.1:p.Ser1057Arg NC_000004.12:37445158:C:A p.(Ser1057Arg) NC_000004.12:37445158:C:A p.(Ser1057Arg) NC_000004.12:37445158:C:A Identity +NM_173834.4:c.165T>A NP_776195.2:p.Asn55Lys NC_000023.11:68511955:T:A p.(Asn55Lys) NC_000023.11:68511955:T:A p.(Asn55Lys) NC_000023.11:68511955:T:A Identity +NM_000581.4:c.97G>A NP_000572.2:p.Gly33Ser NC_000003.12:49358181:C:T p.(Gly33Ser) NC_000003.12:49358181:C:T p.? NC_000003.12:49358181:C:T Identity +NM_001029862.1:c.910G>A NP_001025033.1:p.Asp304Asn NC_000018.10:14763774:G:A ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found +NM_001329866.3:c.214G>A NP_001316795.2:p.Val72Ile NC_000008.11:143607074:C:T p.(Val72Ile) NC_000008.11:143607074:C:T p.(Val72Ile) NC_000008.11:143607074:C:T Identity +NM_001164443.1:c.2906A>T NP_001157915.1:p.Gln969Leu NC_000005.10:75146504:T:A p.(Gln969Leu) NC_000005.10:75146504:T:A p.(Gln969Leu) NC_000005.10:75146504:T:A Identity +NM_015613.3:c.114C>A NP_056428.1:p.Ser38Arg NC_000010.11:84241325:G:T p.(Ser38Arg) NC_000010.11:84241325:G:T p.(Ser38Arg) NC_000010.11:84241325:G:T Identity +NM_001310319.2:c.844G>A NP_001297248.1:p.Asp282Asn NC_000015.10:88899705:C:T p.(Asp282Asn) NC_000015.10:88899705:C:T p.(Asp282Asn) NC_000015.10:88899705:C:T Identity +NM_001172698.2:c.2534C>T NP_001166169.1:p.Thr845Met NC_000005.10:149840072:C:T p.(Thr845Met) NC_000005.10:149840072:C:T p.(Thr845Met) NC_000005.10:149840072:C:T Identity +NM_001135163.1:c.515C>T NP_001128635.1:p.Pro172Leu NC_000019.10:49960366:G:A p.(Pro172Leu) NC_000019.10:49960366:G:A p.(Pro172Leu) NC_000019.10:49960366:G:A Identity +NM_001114133.3:c.1270C>G NP_001107605.1:p.Arg424Gly NC_000010.11:73648381:G:C p.(Arg424Gly) NC_000010.11:73648381:G:C p.(Arg424Gly) NC_000010.11:73648381:G:C Identity +NM_001099218.3:c.580G>C NP_001092688.1:p.Asp194His NC_000002.12:17517835:C:G p.(Asp194His) NC_000002.12:17517835:C:G p.(Asp194His) NC_000002.12:17517835:C:G Identity +NM_001297437.2:c.256A>T NP_001284366.1:p.Asn86Tyr NC_000005.10:41927078:A:T p.(Asn86Tyr) NC_000005.10:41927078:A:T p.(Asn86Tyr) NC_000005.10:41927078:A:T Identity +NM_001174089.2:c.2512A>T NP_001167560.1:p.Met838Leu NC_000020.11:3228304:T:A p.(Met838Leu) NC_000020.11:3228304:T:A p.(Met838Leu) NC_000020.11:3228304:T:A Identity +NM_203400.5:c.334G>C NP_981945.1:p.Val112Leu NC_000017.11:46978673:C:G p.(Val112Leu) NC_000017.11:46978673:C:G p.(Val112Leu) NC_000017.11:46978673:C:G Identity +NM_001301101.2:c.272T>C NP_001288030.1:p.Leu91Pro NC_000015.10:75048592:T:C p.(Leu91Pro) NC_000015.10:75048592:T:C p.(Leu91Pro) NC_000015.10:75048592:T:C Identity +NM_001015055.2:c.355G>T NP_001015055.1:p.Gly119Cys NC_000002.12:74430633:C:A p.(Gly119Cys) NC_000002.12:74430633:C:A p.(Gly119Cys) NC_000002.12:74430633:C:A Identity +NM_018935.4:c.688A>C NP_061758.1:p.Ile230Leu NC_000005.10:141246265:A:C p.(Ile230Leu) NC_000005.10:141246265:A:C p.(Ile230Leu) NC_000005.10:141246265:A:C Identity +NM_001134462.2:c.574C>T NP_001127934.1:p.Arg192Trp NC_000002.12:73208590:C:T p.(Arg192Trp) NC_000002.12:73208590:C:T p.(Arg192Trp) NC_000002.12:73208590:C:T Identity +NM_001304447.2:c.1229C>A NP_001291376.1:p.Ala410Asp NC_000012.12:108240427:C:A p.(Ala410Asp) NC_000012.12:108240427:C:A p.(Ala410Asp) NC_000012.12:108240427:C:A Identity +NM_003811.4:c.673G>A NP_003802.1:p.Ala225Thr NC_000019.10:6534973:G:A p.(Ala225Thr) NC_000019.10:6534973:G:A p.(Ala225Thr) NC_000019.10:6534973:G:A Identity +NM_001256053.2:c.3666A>C NP_001242982.1:p.Gln1222His NC_000010.11:27033362:T:G p.(Gln1222His) NC_000010.11:27033362:T:G p.(Gln1222His) NC_000010.11:27033362:T:G Identity +NM_001199867.2:c.446C>T NP_001186796.1:p.Ser149Leu NC_000019.10:45264863:C:T p.(Ser149Leu) NC_000019.10:45264863:C:T p.(Ser149Leu) NC_000019.10:45264863:C:T Identity +NM_020759.3:c.7146C>G NP_065810.2:p.Asp2382Glu NC_000015.10:42688723:C:G p.(Asp2382Glu) NC_000015.10:42688723:C:G p.(Asp2382Glu) NC_000015.10:42688723:C:G Identity +NM_178511.6:c.8G>A NP_848606.3:p.Gly3Glu NC_000019.10:47274926:G:A p.(Gly3Glu) NC_000019.10:47274926:G:A p.(Gly3Glu) NC_000019.10:47274926:G:A Identity +NM_001391957.1:c.3463G>A NP_001378886.1:p.Asp1155Asn NC_000001.11:15374516:G:A p.(Asp1155Asn) NC_000001.11:15374516:G:A p.(Asp1155Asn) NC_000001.11:15374516:G:A Identity +NM_004209.6:c.499G>A NP_004200.2:p.Ala167Thr NC_000016.10:1992880:G:A p.(Ala167Thr) NC_000016.10:1992880:G:A p.(Ala167Thr) NC_000016.10:1992880:G:A Identity +NM_002023.5:c.161C>G NP_002014.2:p.Pro54Arg NC_000001.11:203348109:G:C p.(Pro54Arg) NC_000001.11:203348109:G:C p.(Pro54Arg) NC_000001.11:203348109:G:C Identity +NM_020799.4:c.689C>A NP_065850.1:p.Pro230His NC_000010.11:88913368:C:A p.(Pro230His) NC_000010.11:88913368:C:A p.(Pro230His) NC_000010.11:88913368:C:A Identity +NM_001033113.2:c.374C>T NP_001028285.1:p.Thr125Met NC_000009.12:137437179:G:A p.(Thr125Met) NC_000009.12:137437179:G:A p.(Thr125Met) NC_000009.12:137437179:G:A Identity +NM_001166624.2:c.356G>C NP_001160096.1:p.Gly119Ala NC_000001.11:196779898:G:C p.(Gly119Ala) NC_000001.11:196779898:G:C p.(Gly119Ala) NC_000001.11:196779898:G:C Identity +NM_001195833.2:c.1051C>A NP_001182762.1:p.Gln351Lys NC_000019.10:38870233:G:T p.(Gln351Lys) NC_000019.10:38870233:G:T p.(Gln351Lys) NC_000019.10:38870233:G:T Identity +NM_001080495.3:c.653C>T NP_001073964.2:p.Pro218Leu NC_000007.14:5389170:G:A p.(Pro218Leu) NC_000007.14:5389170:G:A p.(Pro218Leu) NC_000007.14:5389170:G:A Identity +NM_001410905.1:c.3064A>G NP_001397834.1:p.Met1022Val NC_000016.10:11178597:A:G p.(Met1022Val) NC_000016.10:11178597:A:G p.(Met1022Val) NC_000016.10:11178597:A:G Identity +NM_031479.5:c.1010C>T NP_113667.1:p.Thr337Met NC_000012.12:57456804:C:T p.(Thr337Met) NC_000012.12:57456804:C:T p.(Thr337Met) NC_000012.12:57456804:C:T Identity +NM_001317934.2:c.985G>A NP_001304863.1:p.Ala329Thr NC_000004.12:1354784:G:A p.(Ala329Thr) NC_000004.12:1354784:G:A p.(Ala329Thr) NC_000004.12:1354784:G:A Identity +NM_001171171.2:c.734C>T NP_001164642.1:p.Thr245Ile NC_000003.12:39265775:G:A p.(Thr245Ile) NC_000003.12:39265775:G:A p.(Thr245Ile) NC_000003.12:39265775:G:A Identity +NM_001198773.3:c.749G>A NP_001185702.1:p.Arg250Lys NC_000001.11:151315732:C:T p.(Arg250Lys) NC_000001.11:151315732:C:T p.(Arg250Lys) NC_000001.11:151315732:C:T Identity +NM_017759.5:c.1046G>A NP_060229.3:p.Arg349Gln NC_000002.12:206046530:C:T p.(Arg349Gln) NC_000002.12:206046530:C:T p.(Arg349Gln) NC_000002.12:206046530:C:T Identity +NM_001083617.2:c.1421G>A NP_001077086.1:p.Arg474His NC_000008.11:52661218:C:T p.(Arg474His) NC_000008.11:52661218:C:T p.(Arg474His) NC_000008.11:52661218:C:T Identity +NM_005553.4:c.133G>A NP_005544.4:p.Val45Met NC_000011.10:71548789:G:A p.(Val45Met) NC_000011.10:71548789:G:A p.(Val45Met) NC_000011.10:71548789:G:A Identity +NM_033120.4:c.1019C>T NP_149111.1:p.Pro340Leu NC_000005.10:1038035:C:T p.(Pro340Leu) NC_000005.10:1038035:C:T p.(Pro340Leu) NC_000005.10:1038035:C:T Identity +NM_001306089.2:c.2342C>T NP_001293018.1:p.Ser781Leu NC_000018.10:76908363:C:T p.(Ser781Leu) NC_000018.10:76908363:C:T p.(Ser781Leu) NC_000018.10:76908363:C:T Identity +NM_001023561.4:c.1870C>T NP_001018855.2:p.Arg624Cys NC_000019.10:57445017:C:T p.(Arg624Cys) NC_000019.10:57445017:C:T p.(Arg624Cys) NC_000019.10:57445017:C:T Identity +NM_002311.5:c.1841G>A NP_002302.2:p.Arg614Gln NC_000017.11:34997754:G:A p.(Arg614Gln) NC_000017.11:34997754:G:A p.(Arg614Gln) NC_000017.11:34997754:G:A Identity +NM_000625.4:c.2741G>A NP_000616.3:p.Arg914Gln NC_000017.11:27762856:C:T p.(Arg914Gln) NC_000017.11:27762856:C:T p.(Arg914Gln) NC_000017.11:27762856:C:T Identity +NM_001145542.1:c.968G>A NP_001139014.1:p.Arg323Gln NC_000019.10:58086211:C:T p.(Arg323Gln) NC_000019.10:58086211:C:T p.(Arg323Gln) NC_000019.10:58086211:C:T Identity +NM_001317895.2:c.1266A>C NP_001304824.1:p.Gln422His NC_000008.11:143984771:T:G p.(Gln422His) NC_000008.11:143984771:T:G p.(Gln422His) NC_000008.11:143984771:T:G Identity +NM_001375599.1:c.397G>A NP_001362528.1:p.Gly133Ser NC_000004.12:173248249:G:A p.(Gly133Ser) NC_000004.12:173248249:G:A p.(Gly133Ser) NC_000004.12:173248249:G:A Identity +NM_018933.4:c.721C>T NP_061756.1:p.Pro241Ser NC_000005.10:141214843:C:T p.(Pro241Ser) NC_000005.10:141214843:C:T p.(Pro241Ser) NC_000005.10:141214843:C:T Identity +NM_015144.3:c.2207C>G NP_055959.2:p.Ala736Gly NC_000016.10:87412513:G:C p.(Ala736Gly) NC_000016.10:87412513:G:C p.(Ala736Gly) NC_000016.10:87412513:G:C Identity +NM_001321148.2:c.1579G>A NP_001308077.1:p.Val527Met NC_000017.11:75491852:G:A p.(Val527Met) NC_000017.11:75491852:G:A p.(Val527Met) NC_000017.11:75491852:G:A Identity +NM_015325.3:c.5017C>T NP_056140.1:p.Arg1673Cys NC_000005.10:5464350:C:T p.(Arg1673Cys) NC_000005.10:5464350:C:T p.(Arg1673Cys) NC_000005.10:5464350:C:T Identity +NM_001282771.3:c.1774C>T NP_001269700.1:p.Pro592Ser NC_000002.12:240523942:G:A p.(Pro592Ser) NC_000002.12:240523942:G:A p.(Pro592Ser) NC_000002.12:240523942:G:A Identity +NM_003128.3:c.4078A>G NP_003119.2:p.Lys1360Glu NC_000002.12:54644394:A:G p.(Lys1360Glu) NC_000002.12:54644394:A:G p.(Lys1360Glu) NC_000002.12:54644394:A:G Identity +NM_001080397.3:c.1648G>A NP_001073866.3:p.Glu550Lys NC_000001.11:8337865:G:A p.(Glu550Lys) NC_000001.11:8337865:G:A p.(Glu550Lys) NC_000001.11:8337865:G:A Identity +NM_001112726.3:c.2443G>A NP_001106197.1:p.Ala815Thr NC_000014.9:104886681:G:A p.(Ala815Thr) NC_000014.9:104886681:G:A p.(Ala815Thr) NC_000014.9:104886681:G:A Identity +NM_002458.3:c.5198C>T NP_002449.2:p.Ala1733Val NC_000011.10:1242077:C:T p.(Ala1733Val) NC_000011.10:1242077:C:T p.(Ala1733Val) NC_000011.10:1242077:C:T Identity +NM_138733.5:c.163G>T NP_620061.2:p.Ala55Ser NC_000006.12:49787024:C:A p.(Ala55Ser) NC_000006.12:49787024:C:A p.(Ala55Ser) NC_000006.12:49787024:C:A Identity +NM_001190228.2:c.446C>T NP_001177157.1:p.Pro149Leu NC_000009.12:137229060:C:T p.(Pro149Leu) NC_000009.12:137229060:C:T p.(Pro149Leu) NC_000009.12:137229060:C:T Identity +NM_033440.3:c.104C>T NP_254275.1:p.Ala35Val NC_000001.11:15457148:C:T p.(Ala35Val) NC_000001.11:15457148:C:T p.(Ala35Val) NC_000001.11:15457148:C:T Identity +NM_001281956.2:c.7828A>C NP_001268885.1:p.Thr2610Pro NC_000001.11:33571660:T:G p.(Thr2610Pro) NC_000001.11:33571660:T:G p.(Thr2610Pro) NC_000001.11:33571660:T:G Identity +NM_016256.4:c.710T>A NP_057340.2:p.Ile237Lys NC_000016.10:5030465:A:T p.(Ile237Lys) NC_000016.10:5030465:A:T p.(Ile237Lys) NC_000016.10:5030465:A:T Identity +NM_001287758.2:c.5000G>A NP_001274687.1:p.Ser1667Asn NC_000023.11:108157123:C:T p.(Ser1667Asn) NC_000023.11:108157123:C:T p.(Ser1667Asn) NC_000023.11:108157123:C:T Identity +NM_001115.3:c.3456G>C NP_001106.1:p.Glu1152Asp NC_000008.11:130780689:C:G p.(Glu1152Asp) NC_000008.11:130780689:C:G p.(Glu1152Asp) NC_000008.11:130780689:C:G Identity +NM_001199165.4:c.109C>T NP_001186094.1:p.Arg37Trp NC_000017.11:66177017:G:A p.(Arg37Trp) NC_000017.11:66177017:G:A p.(Arg37Trp) NC_000017.11:66177017:G:A Identity +NM_001199417.2:c.793C>T NP_001186346.1:p.Arg265Trp NC_000017.11:38466475:C:T p.(Arg265Trp) NC_000017.11:38466475:C:T p.(Arg265Trp) NC_000017.11:38466475:C:T Identity +NM_032351.6:c.644G>A NP_115727.5:p.Arg215His NC_000017.11:38320750:G:A p.(Arg215His) NC_000017.11:38320750:G:A p.(Arg215His) NC_000017.11:38320750:G:A Identity +NM_025098.4:c.218C>T NP_079374.2:p.Ala73Val NC_000011.10:75720117:C:T p.(Ala73Val) NC_000011.10:75720117:C:T p.(Ala73Val) NC_000011.10:75720117:C:T Identity +NM_012324.6:c.203C>T NP_036456.1:p.Pro68Leu NC_000022.11:50603253:C:T p.(Pro68Leu) NC_000022.11:50603253:C:T p.(Pro68Leu) NC_000022.11:50603253:C:T Identity +NM_001098270.2:c.1567C>T NP_001091740.1:p.Pro523Ser NC_000022.11:39488913:C:T p.(Pro523Ser) NC_000022.11:39488913:C:T p.(Pro523Ser) NC_000022.11:39488913:C:T Identity +NM_002144.4:c.578C>G NP_002135.2:p.Ala193Gly NC_000017.11:48529874:G:C p.(Ala193Gly) NC_000017.11:48529874:G:C p.(Ala193Gly) NC_000017.11:48529874:G:C Identity +NM_020820.4:c.4126G>A NP_065871.3:p.Val1376Ile NC_000020.11:48636503:C:T p.(Val1376Ile) NC_000020.11:48636503:C:T p.(Val1376Ile) NC_000020.11:48636503:C:T Identity +NM_001004311.3:c.343C>G NP_001004311.2:p.Gln115Glu NC_000002.12:70787689:G:C p.(Gln115Glu) NC_000002.12:70787689:G:C p.(Gln115Glu) NC_000002.12:70787689:G:C Identity +NM_001270380.3:c.973C>T NP_001257309.1:p.Arg325Trp NC_000011.10:74906244:G:A p.(Arg325Trp) NC_000011.10:74906244:G:A p.(Arg325Trp) NC_000011.10:74906244:G:A Identity +NM_144651.5:c.1391A>C NP_653252.4:p.Gln464Pro NC_000008.11:51447137:T:G p.(Gln464Pro) NC_000008.11:51447137:T:G p.(Gln464Pro) NC_000008.11:51447137:T:G Identity +NM_019112.4:c.2171C>T NP_061985.2:p.Thr724Met NC_000019.10:1047555:C:T p.(Thr724Met) NC_000019.10:1047555:C:T p.(Thr724Met) NC_000019.10:1047555:C:T Identity +NM_002458.3:c.8919C>G NP_002449.2:p.Ser2973Arg NC_000011.10:1245798:C:G p.(Ser2973Arg) NC_000011.10:1245798:C:G p.(Ser2973Arg) NC_000011.10:1245798:C:G Identity +NM_031898.3:c.758A>G NP_114104.1:p.Glu253Gly NC_000017.11:15314206:T:C p.(Glu253Gly) NC_000017.11:15314206:T:C p.(Glu253Gly) NC_000017.11:15314206:T:C Identity +NM_001207017.1:c.357G>C NP_001193946.1:p.Trp119Cys NC_000022.11:31088107:G:C p.(Trp119Cys) NC_000022.11:31088107:G:C p.(Trp119Cys) NC_000022.11:31088107:G:C Identity +NM_000080.4:c.607G>A NP_000071.1:p.Gly203Ser NC_000017.11:4901184:C:T p.(Gly203Ser) NC_000017.11:4901184:C:T p.(Gly203Ser) NC_000017.11:4901184:C:T Identity +NM_001143980.3:c.377G>A NP_001137452.1:p.Arg126Gln NC_000016.10:1443542:C:T p.(Arg126Gln) NC_000016.10:1443542:C:T p.(Arg126Gln) NC_000016.10:1443542:C:T Identity +NM_001042550.2:c.1109C>T NP_001036015.1:p.Ala370Val NC_000009.12:104111668:C:T p.(Ala370Val) NC_000009.12:104111668:C:T p.(Ala370Val) NC_000009.12:104111668:C:T Identity +NM_001184717.1:c.1036G>C NP_001171646.1:p.Val346Leu NC_000003.12:156694137:G:C p.(Val346Leu) NC_000003.12:156694137:G:C p.(Val346Leu) NC_000003.12:156694137:G:C Identity +NM_001251874.4:c.133C>T NP_001238803.2:p.Arg45Cys NC_000006.12:73242216:G:A p.(Arg45Cys) NC_000006.12:73242216:G:A p.(Arg45Cys) NC_000006.12:73242216:G:A Identity +NM_001323623.2:c.632A>G NP_001310552.1:p.Tyr211Cys NC_000001.11:37583870:T:C p.(Tyr211Cys) NC_000001.11:37583870:T:C p.(Tyr211Cys) NC_000001.11:37583870:T:C Identity +NM_176891.5:c.521G>A NP_795372.1:p.Arg174Gln NC_000009.12:21481173:C:T p.(Arg174Gln) NC_000009.12:21481173:C:T p.(Arg174Gln) NC_000009.12:21481173:C:T Identity +NM_001130107.2:c.512C>G NP_001123579.1:p.Ser171Cys NC_000014.9:103662134:C:G p.(Ser171Cys) NC_000014.9:103662134:C:G p.(Ser171Cys) NC_000014.9:103662134:C:G Identity +NM_001150.3:c.307T>C NP_001141.2:p.Phe103Leu NC_000015.10:89806276:A:G p.(Phe103Leu) NC_000015.10:89806276:A:G p.(Phe103Leu) NC_000015.10:89806276:A:G Identity +NM_001270362.2:c.947C>T NP_001257291.1:p.Thr316Met NC_000019.10:12952824:C:T p.(Thr316Met) NC_000019.10:12952824:C:T p.(Thr316Met) NC_000019.10:12952824:C:T Identity +NM_001004688.2:c.346G>A NP_001004688.1:p.Ala116Thr NC_000001.11:248180330:G:A p.(Ala116Thr) NC_000001.11:248180330:G:A p.(Ala116Thr) NC_000001.11:248180330:G:A Identity +NM_006443.3:c.325G>A NP_006434.1:p.Val109Met NC_000006.12:43226083:C:T p.(Val109Met) NC_000006.12:43226083:C:T p.(Val109Met) NC_000006.12:43226083:C:T Identity +NM_001353546.2:c.1516G>A NP_001340475.1:p.Gly506Ser NC_000007.14:6622551:G:A p.(Gly506Ser) NC_000007.14:6622551:G:A p.(Gly506Ser) NC_000007.14:6622551:G:A Identity +NM_001243794.2:c.1038C>G NP_001230723.1:p.Asp346Glu NC_000007.14:2433676:C:G p.(Asp346Glu) NC_000007.14:2433676:C:G p.(Asp346Glu) NC_000007.14:2433676:C:G Identity +NM_001131007.2:c.17G>A NP_001124479.1:p.Arg6His NC_000004.12:153466413:G:A p.(Arg6His) NC_000004.12:153466413:G:A p.(Arg6His) NC_000004.12:153466413:G:A Identity +NM_001410877.1:c.1281C>A NP_001397806.1:p.Asn427Lys NC_000007.14:47396884:G:T p.(Asn427Lys) NC_000007.14:47396884:G:T p.(Asn427Lys) NC_000007.14:47396884:G:T Identity +NM_001328674.2:c.1558C>T NP_001315603.1:p.Arg520Trp NC_000001.11:149907819:G:A p.(Arg520Trp) NC_000001.11:149907819:G:A p.(Arg520Trp) NC_000001.11:149907819:G:A Identity +NM_001135686.3:c.446G>A NP_001129158.2:p.Arg149Gln NC_000019.10:54074131:C:T p.(Arg149Gln) NC_000019.10:54074131:C:T p.(Arg149Gln) NC_000019.10:54074131:C:T Identity +NM_012139.4:c.766A>G NP_036271.1:p.Lys256Glu NC_000011.10:17988674:T:C p.(Lys256Glu) NC_000011.10:17988674:T:C p.(Lys256Glu) NC_000011.10:17988674:T:C Identity +NM_024829.6:c.496A>G NP_079105.4:p.Met166Val NC_000012.12:14540825:T:C p.(Met166Val) NC_000012.12:14540825:T:C p.(Met166Val) NC_000012.12:14540825:T:C Identity +NM_001363046.2:c.132G>A NP_001349975.1:p.Met44Ile NC_000008.11:22630462:C:T p.(Met44Ile) NC_000008.11:22630462:C:T p.(Met44Ile) NC_000008.11:22630462:C:T Identity +NM_001134670.2:c.283T>C NP_001128142.1:p.Cys95Arg NC_000010.11:97601927:T:C p.(Cys95Arg) NC_000010.11:97601927:T:C p.(Cys95Arg) NC_000010.11:97601927:T:C Identity +NM_014981.3:c.4436C>T NP_055796.2:p.Thr1479Ile NC_000003.12:108410641:G:A p.(Thr1479Ile) NC_000003.12:108410641:G:A p.(Thr1479Ile) NC_000003.12:108410641:G:A Identity +NM_006909.3:c.1225A>G NP_008840.1:p.Arg409Gly NC_000005.10:81085864:A:G p.(Arg409Gly) NC_000005.10:81085864:A:G p.(Arg409Gly) NC_000005.10:81085864:A:G Identity +NM_001146175.2:c.261C>A NP_001139647.1:p.Ser87Arg NC_000019.10:8513083:G:T p.(Ser87Arg) NC_000019.10:8513083:G:T p.(Ser87Arg) NC_000019.10:8513083:G:T Identity +NM_199355.4:c.326A>G NP_955387.1:p.His109Arg NC_000016.10:77431463:T:C p.(His109Arg) NC_000016.10:77431463:T:C p.(His109Arg) NC_000016.10:77431463:T:C Identity +NM_001159524.1:c.682G>A NP_001152996.1:p.Gly228Ser NC_000007.14:64219732:G:A p.(Gly228Ser) NC_000007.14:64219732:G:A p.(Gly228Ser) NC_000007.14:64219732:G:A Identity +NM_020859.4:c.4616C>T NP_065910.3:p.Pro1539Leu NC_000004.12:76755098:C:T p.(Pro1539Leu) NC_000004.12:76755098:C:T p.(Pro1539Leu) NC_000004.12:76755098:C:T Identity +NM_015302.2:c.1586G>A NP_056117.1:p.Arg529Gln NC_000019.10:35620261:G:A p.(Arg529Gln) NC_000019.10:35620261:G:A p.(Arg529Gln) NC_000019.10:35620261:G:A Identity +NM_001282852.2:c.191A>G NP_001269781.1:p.His64Arg NC_000010.11:35516523:A:G p.(His64Arg) NC_000010.11:35516523:A:G p.(His64Arg) NC_000010.11:35516523:A:G Identity +NM_001256282.2:c.1258A>G NP_001243211.1:p.Arg420Gly NC_000012.12:52898706:T:C p.(Arg420Gly) NC_000012.12:52898706:T:C p.(Arg420Gly) NC_000012.12:52898706:T:C Identity +NM_025081.3:c.1484C>G NP_079357.2:p.Pro495Arg NC_000014.9:24409277:C:G p.(Pro495Arg) NC_000014.9:24409277:C:G p.(Pro495Arg) NC_000014.9:24409277:C:G Identity +NM_020959.3:c.143G>A NP_066010.1:p.Arg48His NC_000019.10:17333763:C:T p.(Arg48His) NC_000019.10:17333763:C:T p.(Arg48His) NC_000019.10:17333763:C:T Identity +NM_001142641.2:c.379C>T NP_001136113.1:p.Pro127Ser NC_000012.12:132508239:C:T p.(Pro127Ser) NC_000012.12:132508239:C:T p.(Pro127Ser) NC_000012.12:132508239:C:T Identity +NM_001146688.2:c.3410A>G NP_001140160.1:p.Lys1137Arg NC_000002.12:86489413:A:G p.(Lys1137Arg) NC_000002.12:86489413:A:G p.(Lys1137Arg) NC_000002.12:86489413:A:G Identity +NM_001191016.3:c.251T>G NP_001177945.2:p.Leu84Arg NC_000011.10:104897224:A:C p.(Leu84Arg) NW_025791791.1:196357:A:C p.(Leu84Arg) NC_000011.10:196357:C:C Identity +NM_001353405.2:c.10G>A NP_001340334.1:p.Glu4Lys NC_000019.10:57573677:C:T p.(Glu4Lys) NC_000019.10:57573677:C:T p.(Glu4Lys) NC_000019.10:57573677:C:T Identity +NM_001286577.2:c.1967A>G NP_001273506.1:p.Glu656Gly NC_000011.10:74106488:T:C p.(Glu656Gly) NC_000011.10:74106488:T:C p.(Glu656Gly) NC_000011.10:74106488:T:C Identity +NM_001195192.2:c.140A>C NP_001182121.1:p.Glu47Ala NC_000017.11:47335304:A:C p.(Glu47Ala) NC_000017.11:47335304:A:C p.(Glu47Ala) NC_000017.11:47335304:A:C Identity +NM_001282444.2:c.246C>G NP_001269373.1:p.Asp82Glu NC_000011.10:64878218:G:C p.(Asp82Glu) NC_000011.10:64878218:G:C p.(Asp82Glu) NC_000011.10:64878218:G:C Identity +NM_001331036.3:c.184A>G NP_001317965.1:p.Met62Val NC_000004.12:139125217:T:C p.(Met62Val) NC_000004.12:139125217:T:C p.(Met62Val) NC_000004.12:139125217:T:C Identity +NM_018696.3:c.584A>C NP_061166.1:p.Lys195Thr NC_000018.10:50984521:A:C p.(Lys195Thr) NC_000018.10:50984521:A:C p.(Lys195Thr) NC_000018.10:50984521:A:C Identity +NM_001166136.2:c.3286G>A NP_001159608.1:p.Gly1096Arg NC_000004.12:5568474:C:T p.(Gly1096Arg) NC_000004.12:5568474:C:T p.(Gly1096Arg) NC_000004.12:5568474:C:T Identity +NM_178353.2:c.259C>T NP_848130.1:p.Arg87Cys NC_000001.11:152787557:C:T p.(Arg87Cys) NC_000001.11:152787557:C:T p.(Arg87Cys) NC_000001.11:152787557:C:T Identity +NM_001080534.3:c.3833C>T NP_001074003.1:p.Ser1278Phe NC_000015.10:54293908:C:T p.(Ser1278Phe) NC_000015.10:54293908:C:T p.(Ser1278Phe) NC_000015.10:54293908:C:T Identity +NM_001242487.2:c.1400C>T NP_001229416.1:p.Thr467Met NC_000010.11:73791938:C:T p.(Thr467Met) NC_000010.11:73791938:C:T p.(Thr467Met) NC_000010.11:73791938:C:T Identity +NM_001330070.2:c.98G>A NP_001316999.1:p.Arg33His NC_000017.11:7078082:C:T p.(Arg33His) NC_000017.11:7078082:C:T p.(Arg33His) NC_000017.11:7078082:C:T Identity +NM_003654.6:c.419A>G NP_003645.1:p.Lys140Arg NC_000011.10:45650504:T:C p.(Lys140Arg) NC_000011.10:45650504:T:C p.(Lys140Arg) NC_000011.10:45650504:T:C Identity +NM_033540.3:c.1375G>A NP_284941.2:p.Asp459Asn NC_000003.12:179378385:G:A p.(Asp459Asn) NC_000003.12:179378385:G:A p.(Asp459Asn) NC_000003.12:179378385:G:A Identity +NM_001320644.2:c.3265G>A NP_001307573.1:p.Gly1089Ser NC_000010.11:122599081:G:A p.(Gly1089Ser) NC_000010.11:122599081:G:A p.(Gly1089Ser) NC_000010.11:122599081:G:A Identity +NM_198993.5:c.185G>A NP_945344.1:p.Cys62Tyr NC_000017.11:39218078:C:T p.(Cys62Tyr) NC_000017.11:39218078:C:T p.(Cys62Tyr) NC_000017.11:39218078:C:T Identity +NM_001306080.2:c.1972G>A NP_001293009.1:p.Ala658Thr NC_000013.11:75817185:G:A p.(Ala658Thr) NC_000013.11:75817185:G:A p.(Ala658Thr) NC_000013.11:75817185:G:A Identity +NM_001012643.4:c.598C>G NP_001012661.1:p.Arg200Gly NC_000019.10:45891224:G:C p.(Arg200Gly) NC_000019.10:45891224:G:C p.(Arg200Gly) NC_000019.10:45891224:G:C Identity +NM_001284306.2:c.1386A>T NP_001271235.1:p.Glu462Asp NC_000015.10:42439676:T:A p.(Glu462Asp) NC_000015.10:42439676:T:A p.(Glu462Asp) NC_000015.10:42439676:T:A Identity +NM_014774.3:c.1118A>G NP_055589.1:p.Lys373Arg NC_000001.11:46684558:T:C p.(Lys373Arg) NC_000001.11:46684558:T:C p.(Lys373Arg) NC_000001.11:46684558:T:C Identity +NM_001288563.2:c.2138C>G NP_001275492.1:p.Pro713Arg NC_000001.11:85126652:C:G p.(Pro713Arg) NC_000001.11:85126652:C:G p.(Pro713Arg) NC_000001.11:85126652:C:G Identity +NM_020791.4:c.731C>T NP_065842.1:p.Thr244Ile NC_000017.11:29489738:C:T p.(Thr244Ile) NC_000017.11:29489738:C:T p.(Thr244Ile) NC_000017.11:29489738:C:T Identity +NM_031423.4:c.1324G>A NP_113611.2:p.Glu442Lys NC_000001.11:163355397:G:A p.(Glu442Lys) NC_000001.11:163355397:G:A p.(Glu442Lys) NC_000001.11:163355397:G:A Identity +NM_004769.4:c.55G>A NP_004760.1:p.Val19Met NC_000007.14:151048939:G:A p.(Val19Met) NC_000007.14:151048939:G:A p.(Val19Met) NC_000007.14:151048939:G:A Identity +NM_001008738.3:c.1468C>T NP_001008738.3:p.Arg490Trp NC_000005.10:131672891:G:A p.(Arg490Trp) NC_000005.10:131672891:G:A p.(Arg490Trp) NC_000005.10:131672891:G:A Identity +NM_012337.3:c.1435C>T NP_036469.2:p.Arg479Trp NC_000001.11:159873085:G:A p.(Arg479Trp) NC_000001.11:159873085:G:A p.(Arg479Trp) NC_000001.11:159873085:G:A Identity +NM_001100600.2:c.319G>T NP_001094070.1:p.Asp107Tyr NC_000007.14:4916050:C:A p.(Asp107Tyr) NC_000007.14:4916050:C:A p.(Asp107Tyr) NC_000007.14:4916050:C:A Identity +NM_001242898.2:c.1801G>A NP_001229827.1:p.Ala601Thr NC_000022.11:50437861:G:A p.(Ala601Thr) NC_000022.11:50437861:G:A p.(Ala601Thr) NC_000022.11:50437861:G:A Identity +NM_001252338.2:c.2569G>A NP_001239267.1:p.Asp857Asn NC_000020.11:61936871:G:A p.(Asp857Asn) NC_000020.11:61936871:G:A p.(Asp857Asn) NC_000020.11:61936871:G:A Identity +NM_001174108.2:c.1675A>G NP_001167579.1:p.Ser559Gly NC_000001.11:203799196:A:G p.(Ser559Gly) NC_000001.11:203799196:A:G p.(Ser559Gly) NC_000001.11:203799196:A:G Identity +NM_017525.3:c.3122C>T NP_059995.2:p.Thr1041Met NC_000011.10:64831686:G:A p.(Thr1041Met) NC_000011.10:64831686:G:A p.(Thr1041Met) NC_000011.10:64831686:G:A Identity +NM_000613.3:c.743C>G NP_000604.1:p.Thr248Ser NC_000011.10:6437137:G:C p.(Thr248Ser) NC_000011.10:6437137:G:C p.(Thr248Ser) NC_000011.10:6437137:G:C Identity +NM_001031855.3:c.613G>A NP_001027026.1:p.Ala205Thr NC_000023.11:118975392:G:A p.(Ala205Thr) NC_000023.11:118975392:G:A p.(Ala205Thr) NC_000023.11:118975392:G:A Identity +NM_004491.5:c.2230C>T NP_004482.4:p.Arg744Cys NC_000019.10:46920904:C:T p.(Arg744Cys) NC_000019.10:46920904:C:T p.(Arg744Cys) NC_000019.10:46920904:C:T Identity +NM_020318.3:c.35C>A NP_064714.2:p.Ala12Glu NC_000001.11:176556356:C:A p.(Ala12Glu) NC_000001.11:176556356:C:A p.(Ala12Glu) NC_000001.11:176556356:C:A Identity +NM_001193282.4:c.1415C>G NP_001180211.2:p.Thr472Arg NC_000004.12:2459217:C:G p.(Thr472Arg) NC_000004.12:2459217:C:G p.(Thr472Arg) NC_000004.12:2459217:C:G Identity +NM_001001670.3:c.3967G>T NP_001001670.1:p.Val1323Phe NC_000009.12:81994436:G:T p.(Val1323Phe) NC_000009.12:81994436:G:T p.(Val1323Phe) NC_000009.12:81994436:G:T Identity +NM_020890.3:c.137C>T NP_065941.2:p.Thr46Ile NC_000003.12:108585177:G:A p.(Thr46Ile) NC_000003.12:108585177:G:A p.(Thr46Ile) NC_000003.12:108585177:G:A Identity +NM_001042403.3:c.1098G>T NP_001035862.1:p.Met366Ile NC_000012.12:95533158:C:A p.(Met366Ile) NC_000012.12:95533158:C:A p.(Met366Ile) NC_000012.12:95533158:C:A Identity +NM_033396.3:c.4384G>T NP_203754.2:p.Ala1462Ser NC_000011.10:57302757:C:A p.(Ala1462Ser) NC_000011.10:57302757:C:A p.(Ala1462Ser) NC_000011.10:57302757:C:A Identity +NM_017798.4:c.744G>T NP_060268.2:p.Met248Ile NC_000020.11:63203195:C:A p.(Met248Ile) NC_000020.11:63203195:C:A p.(Met248Ile) NC_000020.11:63203195:C:A Identity +NM_001099409.3:c.179C>T NP_001092879.1:p.Pro60Leu NC_000011.10:65579356:C:T p.(Pro60Leu) NC_000011.10:65579356:C:T p.(Pro60Leu) NC_000011.10:65579356:C:T Identity +NM_001366244.2:c.890G>A NP_001353173.2:p.Arg297Gln NC_000009.12:128265627:C:T p.(Arg297Gln) NC_000009.12:128265627:C:T p.(Arg297Gln) NC_000009.12:128265627:C:T Identity +NM_001393379.1:c.3392C>T NP_001380308.1:p.Pro1131Leu NC_000009.12:39078727:G:A p.(Pro1131Leu) NC_000009.12:39078727:G:A p.(Pro1131Leu) NC_000009.12:39078727:G:A Identity +NM_001286379.2:c.2648G>A NP_001273308.1:p.Arg883Lys NC_000006.12:170395498:G:A p.(Arg883Lys) NC_000006.12:170395498:G:A p.(Arg883Lys) NC_000006.12:170395498:G:A Identity +NM_001330312.2:c.100G>C NP_001317241.1:p.Glu34Gln NC_000012.12:6233444:G:C p.(Glu34Gln) NC_000012.12:6233444:G:C p.(Glu34Gln) NC_000012.12:6233444:G:C Identity +NM_001202438.2:c.11C>A NP_001189367.1:p.Ala4Asp NC_000010.11:125719817:C:A p.(Ala4Asp) NC_000010.11:125719817:C:A p.(Ala4Asp) NC_000010.11:125719817:C:A Identity +NM_003435.5:c.1279C>T NP_003426.3:p.Leu427Phe NC_000019.10:57621397:C:T p.(Leu427Phe) NC_000019.10:57621397:C:T p.(Leu427Phe) NC_000019.10:57621397:C:T Identity +NM_021733.2:c.1583G>A NP_068379.1:p.Arg528Gln NC_000019.10:49740097:C:T p.(Arg528Gln) NC_000019.10:49740097:C:T p.(Arg528Gln) NC_000019.10:49740097:C:T Identity +NM_001207017.1:c.35C>T NP_001193946.1:p.Ala12Val NC_000022.11:31082954:C:T p.(Ala12Val) NC_000022.11:31082954:C:T p.(Ala12Val) NC_000022.11:31082954:C:T Identity +NM_001303542.3:c.1167G>T NP_001290471.2:p.Lys389Asn NC_000017.11:31528521:G:T p.(Lys389Asn) NC_000017.11:31528521:G:T p.(Lys389Asn) NC_000017.11:31528521:G:T Identity +NM_001378183.1:c.1411G>C NP_001365112.1:p.Glu471Gln NC_000018.10:10797489:C:G p.(Glu471Gln) NC_000018.10:10797489:C:G p.(Glu471Gln) NC_000018.10:10797489:C:G Identity +NM_001122772.3:c.3482C>T NP_001116244.1:p.Ala1161Val NC_000012.12:57726648:G:A p.(Ala1161Val) NC_000012.12:57726648:G:A p.(Ala1161Val) NC_000012.12:57726648:G:A Identity +NM_007076.3:c.425C>T NP_009007.2:p.Ala142Val NC_000012.12:108518522:C:T p.(Ala142Val) NC_000012.12:108518522:C:T p.(Ala142Val) NC_000012.12:108518522:C:T Identity +NM_001146197.3:c.5345A>G NP_001139669.1:p.Lys1782Arg NC_000013.11:102745351:T:C p.(Lys1782Arg) NC_000013.11:102745351:T:C p.(Lys1782Arg) NC_000013.11:102745351:T:C Identity +NM_001017963.3:c.1766C>T NP_001017963.2:p.Thr589Ile NC_000014.9:102083631:G:A p.(Thr589Ile) NC_000014.9:102083631:G:A p.(Thr589Ile) NC_000014.9:102083631:G:A Identity +NM_001191037.2:c.1043C>T NP_001177966.1:p.Thr348Ile NC_000002.12:231077133:C:T p.(Thr348Ile) NC_000002.12:231077133:C:T p.(Thr348Ile) NC_000002.12:231077133:C:T Identity +NM_001414688.1:c.7C>T NP_001401617.1:p.Arg3Trp NC_000012.12:132144494:C:T p.(Arg3Trp) NC_000012.12:132144494:C:T p.(Arg3Trp) NC_000012.12:132144494:C:T Identity +NM_001320707.2:c.2515A>G NP_001307636.1:p.Ile839Val NC_000001.11:88832839:A:G p.(Ile839Val) NC_000001.11:88832839:A:G p.(Ile839Val) NC_000001.11:88832839:A:G Identity +NM_153235.4:c.337C>G NP_694967.3:p.Pro113Ala NC_000006.12:139288562:G:C p.(Pro113Ala) NC_000006.12:139288562:G:C p.(Pro113Ala) NC_000006.12:139288562:G:C Identity +NM_001168355.3:c.704A>C NP_001161827.1:p.Lys235Thr NC_000005.10:38885348:A:C p.(Lys235Thr) NC_000005.10:38885348:A:C p.(Lys235Thr) NC_000005.10:38885348:A:C Identity +NM_001165895.2:c.214A>G NP_001159367.1:p.Ser72Gly NC_000019.10:8304016:T:C p.(Ser72Gly) NC_000019.10:8304016:T:C p.(Ser72Gly) NC_000019.10:8304016:T:C Identity +NM_001105247.2:c.1136G>A NP_001098717.1:p.Arg379Gln NC_000016.10:31462682:G:A p.(Arg379Gln) NC_000016.10:31462682:G:A p.(Arg379Gln) NC_000016.10:31462682:G:A Identity +NM_001145635.2:c.1594T>C NP_001139107.1:p.Trp532Arg NC_000001.11:117112399:A:G p.(Trp532Arg) NC_000001.11:117112399:A:G p.(Trp532Arg) NC_000001.11:117112399:A:G Identity +NM_001184743.2:c.902C>T NP_001171672.1:p.Pro301Leu NC_000006.12:28300755:C:T p.(Pro301Leu) NC_000006.12:28300755:C:T p.(Pro301Leu) NC_000006.12:28300755:C:T Identity +NM_001167749.3:c.1419T>A NP_001161221.1:p.Phe473Leu NC_000001.11:167859824:A:T p.(Phe473Leu) NC_000001.11:167859824:A:T p.(Phe473Leu) NC_000001.11:167859824:A:T Identity +NM_000379.4:c.829A>G NP_000370.2:p.Met277Val NC_000002.12:31383811:T:C p.(Met277Val) NC_000002.12:31383811:T:C p.(Met277Val) NC_000002.12:31383811:T:C Identity +NM_003394.4:c.190C>T NP_003385.2:p.Arg64Cys NC_000012.12:48970235:G:A p.(Arg64Cys) NC_000012.12:48970235:G:A p.(Arg64Cys) NC_000012.12:48970235:G:A Identity +NM_018980.3:c.793C>T NP_061853.1:p.Pro265Ser NC_000007.14:141791153:C:T p.(Pro265Ser) NC_000007.14:141791153:C:T p.(Pro265Ser) NC_000007.14:141791153:C:T Identity +NM_001361189.2:c.1010T>C NP_001348118.1:p.Val337Ala NC_000006.12:116652143:A:G p.(Val337Ala) NC_000006.12:116652143:A:G p.(Val337Ala) NC_000006.12:116652143:A:G Identity +NM_001146182.2:c.1064G>A NP_001139654.1:p.Arg355Gln NC_000017.11:41308189:C:T p.(Arg355Gln) NC_000017.11:41308189:C:T p.(Arg355Gln) NC_000017.11:41308189:C:T Identity +NM_000212.3:c.2260G>A NP_000203.2:p.Ala754Thr NC_000017.11:47307595:G:A p.(Ala754Thr) NC_000017.11:47307595:G:A p.(Ala754Thr) NC_000017.11:47307595:G:A Identity +NM_001135053.2:c.25C>T NP_001128525.1:p.Pro9Ser NC_000011.10:408875:G:A p.(Pro9Ser) NC_000011.10:408875:G:A p.(Pro9Ser) NC_000011.10:408875:G:A Identity +NM_001013698.2:c.529C>T NP_001013720.2:p.Arg177Cys NC_000012.12:14806151:G:A p.(Arg177Cys) NC_000012.12:14806151:G:A p.(Arg177Cys) NC_000012.12:14806151:G:A Identity +NM_001243259.2:c.682C>T NP_001230188.1:p.His228Tyr NC_000011.10:119132500:C:T p.(His228Tyr) NC_000011.10:119132500:C:T p.(His228Tyr) NC_000011.10:119132500:C:T Identity +NM_000668.6:c.774G>A NP_000659.2:p.Met258Ile NC_000004.12:99313874:C:T p.(Met258Ile) NC_000004.12:99313874:C:T p.(Met258Ile) NC_000004.12:99313874:C:T Identity +NM_001080471.3:c.1882T>A NP_001073940.1:p.Ser628Thr NC_000001.11:156910673:T:A p.(Ser628Thr) NC_000001.11:156910673:T:A p.(Ser628Thr) NC_000001.11:156910673:T:A Identity +NM_003793.4:c.1373G>A NP_003784.2:p.Gly458Asp NC_000011.10:66564094:C:T p.(Gly458Asp) NC_000011.10:66564094:C:T p.(Gly458Asp) NC_000011.10:66564094:C:T Identity +NM_001297619.2:c.97G>C NP_001284548.1:p.Asp33His NC_000019.10:36362150:C:G p.(Asp33His) NC_000019.10:36362150:C:G p.(Asp33His) NC_000019.10:36362150:C:G Identity +NM_181536.2:c.3290A>C NP_853514.1:p.Gln1097Pro NC_000016.10:71950210:T:G p.(Gln1097Pro) NC_000016.10:71950210:T:G p.(Gln1097Pro) NC_000016.10:71950210:T:G Identity +NM_014287.4:c.1990A>G NP_055102.3:p.Ile664Val NC_000016.10:14872264:A:G p.(Ile664Val) NC_000016.10:14872264:A:G p.(Ile664Val) NC_000016.10:14872264:A:G Identity +NM_001128602.2:c.1858G>A NP_001122074.1:p.Val620Met NC_000015.10:38494677:C:T p.(Val620Met) NC_000015.10:38494677:C:T p.(Val620Met) NC_000015.10:38494677:C:T Identity +NM_001145734.2:c.1298C>T NP_001139206.2:p.Thr433Ile NC_000005.10:55119835:G:A p.(Thr433Ile) NC_000005.10:55119835:G:A p.(Thr433Ile) NC_000005.10:55119835:G:A Identity +NM_001289934.2:c.1103G>A NP_001276863.1:p.Arg368Gln NC_000007.14:100577676:C:T p.(Arg368Gln) NC_000007.14:100577676:C:T p.(Arg368Gln) NC_000007.14:100577676:C:T Identity +NM_020369.3:c.869G>A NP_065102.1:p.Arg290His NC_000007.14:127596354:G:A p.(Arg290His) NC_000007.14:127596354:G:A p.(Arg290His) NC_000007.14:127596354:G:A Identity +NM_001101672.2:c.1028C>T NP_001095142.1:p.Ala343Val NC_000014.9:21092268:G:A p.(Ala343Val) NC_000014.9:21092268:G:A p.(Ala343Val) NC_000014.9:21092268:G:A Identity +NM_080868.3:c.591T>A NP_543144.1:p.Asp197Glu NC_000001.11:75922169:A:T p.(Asp197Glu) NC_000001.11:75922169:A:T p.(Asp197Glu) NC_000001.11:75922169:A:T Identity +NM_144666.3:c.2678C>T NP_653267.2:p.Pro893Leu NC_000011.10:6533852:C:T p.(Pro893Leu) NC_000011.10:6533852:C:T p.(Pro893Leu) NC_000011.10:6533852:C:T Identity +NM_001318498.2:c.260G>A NP_001305427.1:p.Ser87Asn NC_000011.10:73844918:G:A p.(Ser87Asn) NC_000011.10:73844918:G:A p.(Ser87Asn) NC_000011.10:73844918:G:A Identity +NM_005761.3:c.3517G>A NP_005752.1:p.Val1173Met NC_000012.12:94265144:G:A p.(Val1173Met) NC_000012.12:94265144:G:A p.(Val1173Met) NC_000012.12:94265144:G:A Identity +NM_001375761.1:c.448C>T NP_001362690.1:p.Arg150Trp NC_000007.14:100687331:G:A p.(Arg150Trp) NC_000007.14:100687331:G:A p.(Arg150Trp) NC_000007.14:100687331:G:A Identity +NM_001007257.3:c.170C>T NP_001007258.1:p.Ala57Val NC_000001.11:13778567:C:T p.(Ala57Val) NC_000001.11:13778567:C:T p.(Ala57Val) NC_000001.11:13778567:C:T Identity +NM_000627.4:c.1810C>A NP_000618.4:p.Arg604Ser NC_000002.12:33275008:C:A p.(Arg604Ser) NC_000002.12:33275008:C:A p.(Arg604Ser) NC_000002.12:33275008:C:A Identity +NM_001164771.2:c.115G>A NP_001158243.1:p.Val39Ile NC_000008.11:17543333:G:A p.(Val39Ile) NC_000008.11:17543333:G:A p.(Val39Ile) NC_000008.11:17543333:G:A Identity +NM_003927.5:c.375G>T NP_003918.1:p.Glu125Asp NC_000018.10:54224184:C:A p.(Glu125Asp) NC_000018.10:54224184:C:A p.(Glu125Asp) NC_000018.10:54224184:C:A Identity +NM_002053.3:c.35G>A NP_002044.2:p.Cys12Tyr NC_000001.11:89063199:C:T p.(Cys12Tyr) NC_000001.11:89063199:C:T p.(Cys12Tyr) NC_000001.11:89063199:C:T Identity +NM_001001887.1:c.427T>C NP_001001887.1:p.Cys143Arg NC_000010.11:89402701:T:C ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found ERR:AlignmentMapper(tx_ac=NM_001001887.1, alt_ac=NM_001001887.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001887.1, alt_ac=NM_001001887.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001887.1 not found +NM_018919.3:c.1987G>A NP_061742.1:p.Ala663Thr NC_000005.10:141376069:G:A p.(Ala663Thr) NC_000005.10:141376069:G:A p.(Ala663Thr) NC_000005.10:141376069:G:A Identity +NM_001164674.2:c.202C>G NP_001158146.1:p.His68Asp NC_000003.12:4467043:G:C p.(His68Asp) NC_000003.12:4467043:G:C p.(His68Asp) NC_000003.12:4467043:G:C Identity +NM_001142310.2:c.119G>A NP_001135782.1:p.Arg40Lys NC_000002.12:216096081:G:A p.(Arg40Lys) NC_000002.12:216096081:G:A p.(Arg40Lys) NC_000002.12:216096081:G:A Identity +NM_001370598.1:c.1642A>G NP_001357527.1:p.Ile548Val NC_000012.12:111310609:A:G p.(Ile548Val) NC_000012.12:111310609:A:G p.(Ile548Val) NC_000012.12:111310609:A:G Identity +NM_001256508.1:c.241C>T NP_001243437.1:p.Arg81Trp NC_000011.10:67405172:C:T p.(Arg81Trp) NC_000011.10:67405172:C:T p.(Arg81Trp) NC_000011.10:67405172:C:T Identity +NM_001346143.2:c.1220C>T NP_001333072.1:p.Thr407Met NC_000014.9:85622733:C:T p.(Thr407Met) NC_000014.9:85622733:C:T p.(Thr407Met) NC_000014.9:85622733:C:T Identity +NM_001270546.1:c.482G>A NP_001257475.1:p.Arg161Gln NC_000015.10:85655603:G:A p.(Arg161Gln) NC_000015.10:85655603:G:A p.(Arg161Gln) NC_000015.10:85655603:G:A Identity +NM_000620.5:c.334A>G NP_000611.1:p.Thr112Ala NC_000012.12:117330735:T:C p.(Thr112Ala) NC_000012.12:117330735:T:C p.(Thr112Ala) NC_000012.12:117330735:T:C Identity +NM_001177880.2:c.1021G>A NP_001171351.1:p.Val341Met NC_000011.10:67045805:G:A p.(Val341Met) NC_000011.10:67045805:G:A p.(Val341Met) NC_000011.10:67045805:G:A Identity +NM_024605.4:c.995T>C NP_078881.3:p.Ile332Thr NC_000004.12:147881892:T:C p.(Ile332Thr) NC_000004.12:147881892:T:C p.(Ile332Thr) NC_000004.12:147881892:T:C Identity +NM_001105533.1:c.2087C>G NP_001099003.1:p.Thr696Ser NC_000007.14:121236744:C:G p.(Thr696Ser) NC_000007.14:121236744:C:G p.(Thr696Ser) NC_000007.14:121236744:C:G Identity +NM_017514.5:c.4811C>T NP_059984.3:p.Thr1604Met NC_000023.11:154469991:C:T p.(Thr1604Met) NC_000023.11:154469991:C:T p.(Thr1604Met) NC_000023.11:154469991:C:T Identity +NM_001173466.2:c.80C>T NP_001166937.1:p.Thr27Met NC_000012.12:53321385:G:A p.(Thr27Met) NC_000012.12:53321385:G:A p.(Thr27Met) NC_000012.12:53321385:G:A Identity +NM_001010923.3:c.446T>C NP_001010923.1:p.Met149Thr NC_000006.12:127829738:A:G p.(Met149Thr) NC_000006.12:127829738:A:G p.(Met149Thr) NC_000006.12:127829738:A:G Identity +NM_001142568.3:c.1774G>A NP_001136040.1:p.Ala592Thr NC_000003.12:107773494:G:A p.(Ala592Thr) NC_000003.12:107773494:G:A p.(Ala592Thr) NC_000003.12:107773494:G:A Identity +NM_001300784.2:c.407C>G NP_001287713.1:p.Thr136Arg NC_000012.12:14915552:G:C p.(Thr136Arg) NC_000012.12:14915552:G:C p.(Thr136Arg) NC_000012.12:14915552:G:C Identity +NM_001004489.3:c.742G>A NP_001004489.1:p.Val248Ile NC_000011.10:6785778:G:A p.(Val248Ile) NC_000011.10:6785778:G:A p.(Val248Ile) NC_000011.10:6785778:G:A Identity +NM_183240.3:c.53G>A NP_899063.2:p.Arg18His NC_000002.12:119436919:G:A p.(Arg18His) NC_000002.12:119436919:G:A p.(Arg18His) NC_000002.12:119436919:G:A Identity +NM_133180.3:c.19C>T NP_573441.2:p.Pro7Ser NC_000019.10:55078088:C:T p.(Pro7Ser) NC_000019.10:55078088:C:T p.(Pro7Ser) NC_000019.10:55078088:C:T Identity +NM_144666.3:c.2411T>G NP_653267.2:p.Leu804Arg NC_000011.10:6533089:T:G p.(Leu804Arg) NC_000011.10:6533089:T:G p.(Leu804Arg) NC_000011.10:6533089:T:G Identity +NM_001040694.2:c.2189G>A NP_001035784.1:p.Arg730Gln NC_000011.10:62146886:G:A p.(Arg730Gln) NC_000011.10:62146886:G:A p.(Arg730Gln) NC_000011.10:62146886:G:A Identity +NM_001007525.5:c.3830G>A NP_001007526.3:p.Gly1277Glu NC_000019.10:16807678:G:A p.(Gly1277Glu) NC_000019.10:16807678:G:A p.(Gly1277Glu) NC_000019.10:16807678:G:A Identity +NM_001172700.2:c.431G>A NP_001166171.1:p.Arg144Gln NC_000005.10:132825709:C:T p.(Arg144Gln) NC_000005.10:132825709:C:T p.(Arg144Gln) NC_000005.10:132825709:C:T Identity +NM_001220484.1:c.2713C>T NP_001207413.1:p.Arg905Cys NC_000014.9:73495299:G:A p.(Arg905Cys) NC_000014.9:73495299:G:A p.(Arg905Cys) NC_000014.9:73495299:G:A Identity +NM_001167890.2:c.1346G>A NP_001161362.1:p.Arg449Gln NC_000023.11:13627067:G:A p.(Arg449Gln) NC_000023.11:13627067:G:A p.(Arg449Gln) NC_000023.11:13627067:G:A Identity +NM_153006.3:c.199G>A NP_694551.1:p.Asp67Asn NC_000017.11:44004861:G:A p.(Asp67Asn) NC_000017.11:44004861:G:A p.(Asp67Asn) NC_000017.11:44004861:G:A Identity +NM_004212.4:c.614G>A NP_004203.2:p.Gly205Asp NC_000015.10:45264679:G:A p.(Gly205Asp) NC_000015.10:45264679:G:A p.(Gly205Asp) NC_000015.10:45264679:G:A Identity +NM_001330107.2:c.1625T>G NP_001317036.1:p.Phe542Cys NC_000010.11:73805707:A:C p.(Phe542Cys) NC_000010.11:73805707:A:C p.(Phe542Cys) NC_000010.11:73805707:A:C Identity +NM_015042.2:c.1874A>G NP_055857.1:p.Asp625Gly NC_000015.10:64674727:A:G p.(Asp625Gly) NC_000015.10:64674727:A:G p.(Asp625Gly) NC_000015.10:64674727:A:G Identity +NM_001330364.2:c.1186A>T NP_001317293.1:p.Ile396Phe NC_000002.12:88108449:A:T p.(Ile396Phe) NC_000002.12:88108449:A:T p.(Ile396Phe) NC_000002.12:88108449:A:T Identity +NM_001765.3:c.860T>G NP_001756.2:p.Leu287Arg NC_000001.11:158292844:T:G p.(Leu287Arg) NC_000001.11:158292844:T:G p.(Leu287Arg) NC_000001.11:158292844:T:G Identity +NM_001008489.4:c.715A>G NP_001008489.1:p.Ile239Val NC_000002.12:169701685:A:G p.(Ile239Val) NC_000002.12:169701685:A:G p.(Ile239Val) NC_000002.12:169701685:A:G Identity +NM_001130083.2:c.1124G>A NP_001123555.1:p.Arg375His NC_000004.12:8029699:C:T p.(Arg375His) NC_000004.12:8029699:C:T p.(Arg375His) NC_000004.12:8029699:C:T Identity +NM_006825.4:c.1433C>T NP_006816.2:p.Thr478Ile NC_000012.12:106239399:G:A p.(Thr478Ile) NC_000012.12:106239399:G:A p.(Thr478Ile) NC_000012.12:106239399:G:A Identity +NM_001319085.2:c.1801A>C NP_001306014.1:p.Met601Leu NC_000002.12:96552166:A:C p.(Met601Leu) NC_000002.12:96552166:A:C p.(Met601Leu) NC_000002.12:96552166:A:C Identity +NM_006768.5:c.566A>G NP_006759.3:p.Glu189Gly NC_000012.12:111679217:T:C p.(Glu189Gly) NC_000012.12:111679217:T:C p.(Glu189Gly) NC_000012.12:111679217:T:C Identity +NM_001199096.2:c.1880C>T NP_001186025.1:p.Pro627Leu NC_000016.10:1345295:C:T p.(Pro627Leu) NC_000016.10:1345295:C:T p.(Pro627Leu) NC_000016.10:1345295:C:T Identity +NM_001172655.1:c.1424G>A NP_001166126.1:p.Arg475His NC_000019.10:52583284:G:A p.(Arg475His) NC_000019.10:52583284:G:A p.(Arg475His) NC_000019.10:52583284:G:A Identity +NM_018914.3:c.509G>A NP_061737.1:p.Ser170Asn NC_000005.10:141421735:G:A p.(Ser170Asn) NC_000005.10:141421735:G:A p.(Ser170Asn) NC_000005.10:141421735:G:A Identity +NM_005127.3:c.132C>A NP_005118.2:p.Asn44Lys NC_000012.12:9857578:G:T p.(Asn44Lys) NC_000012.12:9857578:G:T p.(Asn44Lys) NC_000012.12:9857578:G:T Identity +NM_006998.4:c.89G>A NP_008929.2:p.Gly30Asp NC_000006.12:25653387:G:A p.(Gly30Asp) NC_000006.12:25653387:G:A p.(Gly30Asp) NC_000006.12:25653387:G:A Identity +NM_001302489.2:c.572G>A NP_001289418.1:p.Arg191His NC_000011.10:47244850:C:T p.(Arg191His) NC_000011.10:47244850:C:T p.(Arg191His) NC_000011.10:47244850:C:T Identity +NM_003417.5:c.1336A>G NP_003408.1:p.Lys446Glu NC_000019.10:57212432:A:G p.(Lys446Glu) NC_000019.10:57212432:A:G p.(Lys446Glu) NC_000019.10:57212432:A:G Identity +NM_002458.3:c.15788C>T NP_002449.2:p.Pro5263Leu NC_000011.10:1255163:C:T p.(Pro5263Leu) NC_000011.10:1255163:C:T p.(Pro5263Leu) NC_000011.10:1255163:C:T Identity +NM_001166434.3:c.1952G>A NP_001159906.1:p.Gly651Asp NC_000003.12:52790804:G:A p.(Gly651Asp) NC_000003.12:52790804:G:A p.(Gly651Asp) NC_000003.12:52790804:G:A Identity +NM_001282688.2:c.1957C>T NP_001269617.1:p.Arg653Cys NC_000009.12:89350698:C:T p.(Arg653Cys) NC_000009.12:89350698:C:T p.(Arg653Cys) NC_000009.12:89350698:C:T Identity +NM_001198972.2:c.2891C>A NP_001185901.1:p.Pro964Gln NC_000001.11:32772246:C:A p.(Pro964Gln) NC_000001.11:32772246:C:A p.(Pro964Gln) NC_000001.11:32772246:C:A Identity +NM_005110.4:c.1420G>A NP_005101.1:p.Ala474Thr NC_000005.10:180313817:C:T p.(Ala474Thr) NC_000005.10:180313817:C:T p.(Ala474Thr) NC_000005.10:180313817:C:T Identity +NM_153366.4:c.9920A>G NP_699197.3:p.Asn3307Ser NC_000009.12:110387424:T:C p.(Asn3307Ser) NC_000009.12:110387424:T:C p.(Asn3307Ser) NC_000009.12:110387424:T:C Identity +NM_001319035.2:c.4681T>G NP_001305964.1:p.Ser1561Ala NC_000014.9:20380051:A:C p.(Ser1561Ala) NC_000014.9:20380051:A:C p.(Ser1561Ala) NC_000014.9:20380051:A:C Identity +NM_014449.2:c.727C>T NP_055264.1:p.Arg243Trp NC_000012.12:6827015:C:T p.(Arg243Trp) NC_000012.12:6827015:C:T p.(Arg243Trp) NC_000012.12:6827015:C:T Identity +NM_001080744.2:c.291C>G NP_001074213.1:p.Asn97Lys NC_000003.12:186298082:G:C p.(Asn97Lys) NC_000003.12:186298082:G:C p.(Asn97Lys) NC_000003.12:186298082:G:C Identity +NM_007076.3:c.424G>A NP_009007.2:p.Ala142Thr NC_000012.12:108518521:G:A p.(Ala142Thr) NC_000012.12:108518521:G:A p.(Ala142Thr) NC_000012.12:108518521:G:A Identity +NM_173794.4:c.377A>G NP_776155.1:p.Asn126Ser NC_000023.11:44527249:T:C p.(Asn126Ser) NC_000023.11:44527249:T:C p.(Asn126Ser) NC_000023.11:44527249:T:C Identity +NM_015267.4:c.145C>T NP_056082.2:p.Arg49Cys NC_000012.12:111214280:C:T p.(Arg49Cys) NC_000012.12:111214280:C:T p.(Arg49Cys) NC_000012.12:111214280:C:T Identity +NM_001318251.3:c.715G>C NP_001305180.1:p.Val239Leu NC_000022.11:16784283:C:G p.(Val239Leu) NC_000022.11:16784283:C:G p.(Val239Leu) NC_000022.11:16784283:C:G Identity +NM_001257998.2:c.232A>G NP_001244927.1:p.Ile78Val NC_000007.14:93256532:A:G p.(Ile78Val) NC_000007.14:93256532:A:G p.(Ile78Val) NC_000007.14:93256532:A:G Identity +NM_001001683.4:c.319G>A NP_001001683.1:p.Val107Met NC_000017.11:4733151:G:A p.(Val107Met) NC_000017.11:4733151:G:A p.(Val107Met) NC_000017.11:4733151:G:A Identity +NM_001193630.1:c.248C>T NP_001180559.1:p.Ala83Val NC_000008.11:7950676:C:T p.(Ala83Val) NC_000008.11:7950676:C:T p.(Ala83Val) NC_000008.11:7950676:C:T Identity +NM_014331.4:c.869C>T NP_055146.1:p.Thr290Met NC_000004.12:138185166:G:A p.(Thr290Met) NC_000004.12:138185166:G:A p.(Thr290Met) NC_000004.12:138185166:G:A Identity +NM_001385060.1:c.2498T>C NP_001371989.1:p.Met833Thr NC_000003.12:151447482:A:G p.(Met833Thr) NC_000003.12:151447482:A:G p.(Met833Thr) NC_000003.12:151447482:A:G Identity +NM_001317406.3:c.94G>A NP_001304335.1:p.Gly32Ser NC_000003.12:10816358:G:A p.(Gly32Ser) NC_000003.12:10816358:G:A p.(Gly32Ser) NC_000003.12:10816358:G:A Identity +NM_001134.3:c.1334C>T NP_001125.1:p.Ser445Leu NC_000004.12:73450658:C:T p.(Ser445Leu) NC_000004.12:73450658:C:T p.(Ser445Leu) NC_000004.12:73450658:C:T Identity +NM_001190987.3:c.1099C>T NP_001177916.1:p.Arg367Cys NC_000001.11:70250027:C:T p.(Arg367Cys) NC_000001.11:70250027:C:T p.(Arg367Cys) NC_000001.11:70250027:C:T Identity +NM_001278938.2:c.97C>T NP_001265867.1:p.Arg33Trp NC_000008.11:109553877:C:T p.(Arg33Trp) NC_000008.11:109553877:C:T p.(Arg33Trp) NC_000008.11:109553877:C:T Identity +NM_178523.5:c.377A>G NP_848618.2:p.His126Arg NC_000019.10:52116786:T:C p.(His126Arg) NC_000019.10:52116786:T:C p.(His126Arg) NC_000019.10:52116786:T:C Identity +NM_001346789.2:c.283C>T NP_001333718.1:p.His95Tyr NC_000023.11:54444034:C:T p.(His95Tyr) NC_000023.11:54444034:C:T p.(His95Tyr) NC_000023.11:54444034:C:T Identity +NM_001173461.2:c.438G>T NP_001166932.1:p.Gln146His NC_000017.11:11241859:G:T p.(Gln146His) NC_000017.11:11241859:G:T p.(Gln146His) NC_000017.11:11241859:G:T Identity +NM_001145373.3:c.766G>C NP_001138845.1:p.Asp256His NC_000010.11:23440222:G:C p.(Asp256His) NC_000010.11:23440222:G:C p.(Asp256His) NC_000010.11:23440222:G:C Identity +NM_001395010.1:c.1667A>G NP_001381939.1:p.Lys556Arg NC_000009.12:121766699:A:G p.(Lys556Arg) NC_000009.12:121766699:A:G p.(Lys556Arg) NC_000009.12:121766699:A:G Identity +NM_001292032.2:c.790C>T NP_001278961.1:p.Arg264Cys NC_000006.12:35291595:C:T p.(Arg264Cys) NC_000006.12:35291595:C:T p.(Arg264Cys) NC_000006.12:35291595:C:T Identity +NM_001349715.2:c.29T>C NP_001336644.1:p.Val10Ala NC_000001.11:29230877:A:G p.(Val10Ala) NC_000001.11:29230877:A:G p.(Val10Ala) NC_000001.11:29230877:A:G Identity +NM_004076.5:c.112C>T NP_004067.1:p.Arg38Cys NC_000022.11:25202709:C:T p.(Arg38Cys) NC_000022.11:25202709:C:T p.(Arg38Cys) NC_000022.11:25202709:C:T Identity +NM_001297673.2:c.1456T>C NP_001284602.1:p.Ser486Pro NC_000001.11:150464648:T:C p.(Ser486Pro) NC_000001.11:150464648:T:C p.(Ser486Pro) NC_000001.11:150464648:T:C Identity +NM_003940.3:c.1331G>A NP_003931.2:p.Arg444Lys NC_000003.12:179740322:G:A p.(Arg444Lys) NC_000003.12:179740322:G:A p.(Arg444Lys) NC_000003.12:179740322:G:A Identity +NM_001099677.1:c.801G>A NP_001093147.1:p.Met267Ile NC_000008.11:13021857:G:A p.(Met267Ile) NC_000008.11:13021857:G:A p.(Met267Ile) NC_000008.11:13021857:G:A Identity +NM_004638.4:c.2293A>G NP_004629.3:p.Ser765Gly NC_000006.12:31630628:A:G p.(Ser765Gly) NC_000006.12:31630628:A:G p.(Ser765Gly) NC_000006.12:31630628:A:G Identity +NM_001190411.2:c.809G>C NP_001177340.1:p.Gly270Ala NC_000017.11:215720:C:G p.(Gly270Ala) NC_000017.11:215720:C:G p.(Gly270Ala) NC_000017.11:215720:C:G Identity +NM_001301010.3:c.829C>T NP_001287939.2:p.Arg277Trp NC_000011.10:107532348:G:A p.(Arg277Trp) NC_000011.10:107532348:G:A p.(Arg277Trp) NC_000011.10:107532348:G:A Identity +NM_001199207.2:c.1744G>A NP_001186136.1:p.Glu582Lys NC_000007.14:74544783:G:A p.(Glu582Lys) NC_000007.14:74544783:G:A p.(Glu582Lys) NC_000007.14:74544783:G:A Identity +NM_001185024.2:c.2311C>T NP_001171953.1:p.Leu771Phe NC_000022.11:20147204:C:T p.(Leu771Phe) NC_000022.11:20147204:C:T p.(Leu771Phe) NC_000022.11:20147204:C:T Identity +NM_033195.3:c.614A>G NP_149972.1:p.Asn205Ser NC_000015.10:59207553:A:G p.(Asn205Ser) NC_000015.10:59207553:A:G p.(Asn205Ser) NC_000015.10:59207553:A:G Identity +NM_001083585.3:c.485C>A NP_001077054.1:p.Ser162Tyr NC_000017.11:5335300:C:A p.(Ser162Tyr) NC_000017.11:5335300:C:A p.(Ser162Tyr) NC_000017.11:5335300:C:A Identity +NM_006910.5:c.4478A>T NP_008841.2:p.Glu1493Val NC_000016.10:24571543:A:T p.(Glu1493Val) NC_000016.10:24571543:A:T p.(Glu1493Val) NC_000016.10:24571543:A:T Identity +NM_015457.3:c.1241A>G NP_056272.2:p.Lys414Arg NC_000011.10:57698676:A:G p.(Lys414Arg) NC_000011.10:57698676:A:G p.(Lys414Arg) NC_000011.10:57698676:A:G Identity +NM_001286173.2:c.2720T>C NP_001273102.1:p.Val907Ala NC_000012.12:22457133:A:G p.(Val907Ala) NC_000012.12:22457133:A:G p.(Val907Ala) NC_000012.12:22457133:A:G Identity +NM_001145368.2:c.2055G>T NP_001138840.1:p.Gln685His NC_000009.12:109389295:C:A p.(Gln685His) NC_000009.12:109389295:C:A p.(Gln685His) NC_000009.12:109389295:C:A Identity +NM_001367553.1:c.85G>A NP_001354482.1:p.Ala29Thr NC_000007.14:2244658:G:A p.(Ala29Thr) NC_000007.14:2244658:G:A p.(Ala29Thr) NC_000007.14:2244658:G:A Identity +NM_001267576.2:c.2344G>A NP_001254505.1:p.Val782Ile NC_000017.11:9727976:G:A p.(Val782Ile) NC_000017.11:9727976:G:A p.(Val782Ile) NC_000017.11:9727976:G:A Identity +NM_175739.4:c.229A>T NP_783866.3:p.Thr77Ser NC_000014.9:94469611:T:A p.(Thr77Ser) NC_000014.9:94469611:T:A p.(Thr77Ser) NC_000014.9:94469611:T:A Identity +NM_001142568.3:c.182A>G NP_001136040.1:p.Asp61Gly NC_000003.12:107716625:A:G p.(Asp61Gly) NC_000003.12:107716625:A:G p.(Asp61Gly) NC_000003.12:107716625:A:G Identity +NM_001085451.2:c.309A>T NP_001078920.1:p.Arg103Ser NC_000003.12:100451870:A:T p.(Arg103Ser) NC_000003.12:100451870:A:T p.(Arg103Ser) NC_000003.12:100451870:A:T Identity +NM_203412.2:c.211A>G NP_981957.1:p.Met71Val NC_000001.11:110112744:A:G p.(Met71Val) NC_000001.11:110112744:A:G p.(Met71Val) NC_000001.11:110112744:A:G Identity +NM_053006.5:c.658G>A NP_443732.3:p.Asp220Asn NC_000022.11:19132056:G:A p.(Asp220Asn) NC_000022.11:19132056:G:A p.(Asp220Asn) NC_000022.11:19132056:G:A Identity +NM_001200049.3:c.7732G>A NP_001186978.2:p.Ala2578Thr NC_000010.11:132808836:C:T p.(Ala2578Thr) NC_000010.11:132808836:C:T p.(Ala2578Thr) NC_000010.11:132808836:C:T Identity +NM_001330653.3:c.3760G>A NP_001317582.1:p.Ala1254Thr NC_000009.12:35398966:G:A p.(Ala1254Thr) NC_000009.12:35398966:G:A p.(Ala1254Thr) NC_000009.12:35398966:G:A Identity +NM_001384818.1:c.925C>T NP_001371747.1:p.Arg309Cys NC_000009.12:131447153:C:T p.(Arg309Cys) NC_000009.12:131447153:C:T p.(Arg309Cys) NC_000009.12:131447153:C:T Identity +NM_001014972.3:c.401G>A NP_001014972.1:p.Arg134His NC_000002.12:71349354:G:A p.(Arg134His) NC_000002.12:71349354:G:A p.(Arg134His) NC_000002.12:71349354:G:A Identity +NM_001286350.2:c.637G>A NP_001273279.1:p.Ala213Thr NC_000006.12:168308609:C:T p.(Ala213Thr) NC_000006.12:168308609:C:T p.(Ala213Thr) NC_000006.12:168308609:C:T Identity +NM_001547.5:c.838A>G NP_001538.4:p.Asn280Asp NC_000010.11:89306793:A:G p.(Asn280Asp) NC_000010.11:89306793:A:G p.(Asn280Asp) NC_000010.11:89306793:A:G Identity +NM_001297713.2:c.368C>T NP_001284642.1:p.Ser123Leu NC_000001.11:162019988:G:A p.(Ser123Leu) NC_000001.11:162019988:G:A p.(Ser123Leu) NC_000001.11:162019988:G:A Identity +NM_005425.5:c.302G>A NP_005416.1:p.Arg101His NC_000016.10:11268960:C:T p.(Arg101His) NC_000016.10:11268960:C:T p.(Arg101His) NC_000016.10:11268960:C:T Identity +NM_004769.4:c.803A>G NP_004760.1:p.Gln268Arg NC_000007.14:151050597:A:G p.(Gln268Arg) NC_000007.14:151050597:A:G p.(Gln268Arg) NC_000007.14:151050597:A:G Identity +NM_001195610.2:c.378C>G NP_001182539.1:p.Asn126Lys NC_000006.12:24302014:G:C p.(Asn126Lys) NC_000006.12:24302014:G:C p.(Asn126Lys) NC_000006.12:24302014:G:C Identity +NM_001308339.2:c.3835C>T NP_001295268.1:p.Arg1279Cys NC_000012.12:31387697:G:A p.(Arg1279Cys) NC_000012.12:31387697:G:A p.(Arg1279Cys) NC_000012.12:31387697:G:A Identity +NM_014429.4:c.2342T>C NP_055244.3:p.Met781Thr NC_000003.12:108979649:A:G p.(Met781Thr) NC_000003.12:108979649:A:G p.(Met781Thr) NC_000003.12:108979649:A:G Identity +NM_001243270.2:c.377G>A NP_001230199.1:p.Arg126His NC_000011.10:99844950:G:A p.(Arg126His) NC_000011.10:99844950:G:A p.(Arg126His) NC_000011.10:99844950:G:A Identity +NM_001348355.2:c.2932C>G NP_001335284.1:p.Arg978Gly NC_000019.10:8522739:G:C p.(Arg978Gly) NC_000019.10:8522739:G:C p.(Arg978Gly) NC_000019.10:8522739:G:C Identity +NM_001102469.2:c.109A>G NP_001095939.1:p.Ser37Gly NC_000010.11:88762187:A:G p.(Ser37Gly) NC_000010.11:88762187:A:G p.(Ser37Gly) NC_000010.11:88762187:A:G Identity +NM_173628.4:c.12014C>T NP_775899.3:p.Ala4005Val NC_000017.11:78437659:G:A p.(Ala4005Val) NC_000017.11:78437659:G:A p.(Ala4005Val) NC_000017.11:78437659:G:A Identity +NM_006423.3:c.68C>G NP_006414.2:p.Pro23Arg NC_000019.10:41958936:G:C p.(Pro23Arg) NC_000019.10:41958936:G:C p.(Pro23Arg) NC_000019.10:41958936:G:C Identity +NM_152898.2:c.416G>A NP_690862.1:p.Arg139Gln NC_000007.14:19144946:C:T p.(Arg139Gln) NC_000007.14:19144946:C:T p.(Arg139Gln) NC_000007.14:19144946:C:T Identity +NM_001317056.2:c.21G>T NP_001303985.1:p.Trp7Cys NC_000007.14:151024402:C:A p.(Trp7Cys) NC_000007.14:151024402:C:A p.(Trp7Cys) NC_000007.14:151024402:C:A Identity +NM_001278610.2:c.481G>C NP_001265539.1:p.Asp161His NC_000020.11:43692208:G:C p.(Asp161His) NC_000020.11:43692208:G:C p.(Asp161His) NC_000020.11:43692208:G:C Identity +NM_001322831.2:c.1034G>A NP_001309760.1:p.Arg345Gln NC_000003.12:138464462:G:A p.(Arg345Gln) NC_000003.12:138464462:G:A p.(Arg345Gln) NC_000003.12:138464462:G:A Identity +NM_004765.4:c.602C>T NP_004756.2:p.Ser201Leu NC_000016.10:30887916:G:A p.(Ser201Leu) NC_000016.10:30887916:G:A p.(Ser201Leu) NC_000016.10:30887916:G:A Identity +NM_007365.3:c.1040G>A NP_031391.2:p.Arg347His NC_000001.11:17083735:C:T p.(Arg347His) NC_000001.11:17083735:C:T p.(Arg347His) NC_000001.11:17083735:C:T Identity +NM_001080453.3:c.5648T>C NP_001073922.2:p.Met1883Thr NC_000007.14:1474348:A:G p.(Met1883Thr) NC_000007.14:1474348:A:G p.(Met1883Thr) NC_000007.14:1474348:A:G Identity +NM_001370443.1:c.134G>A NP_001357372.1:p.Arg45His NC_000007.14:23185081:G:A p.(Arg45His) NC_000007.14:23185081:G:A p.(Arg45His) NC_000007.14:23185081:G:A Identity +NM_020987.5:c.9977C>G NP_066267.2:p.Pro3326Arg NC_000010.11:60070903:G:C p.(Pro3326Arg) NC_000010.11:60070903:G:C p.(Pro3326Arg) NC_000010.11:60070903:G:C Identity +NM_006453.3:c.1133T>C NP_006444.2:p.Ile378Thr NC_000016.10:1976058:T:C p.(Ile378Thr) NC_000016.10:1976058:T:C p.(Ile378Thr) NC_000016.10:1976058:T:C Identity +NM_001134335.2:c.216G>C NP_001127807.1:p.Leu72Phe NC_000007.14:6054606:C:G p.(Leu72Phe) NC_000007.14:6054606:C:G p.(Leu72Phe) NC_000007.14:6054606:C:G Identity +NM_001001317.5:c.271C>T NP_001001317.1:p.Pro91Ser NC_000007.14:142255219:G:A p.(Pro91Ser) NC_000007.14:142255219:G:A p.(Pro91Ser) NC_000007.14:142255219:G:A Identity +NM_001101404.2:c.298A>G NP_001094874.1:p.Asn100Asp NC_000015.10:78097959:A:G p.(Asn100Asp) NC_000015.10:78097959:A:G p.(Asn100Asp) NC_000015.10:78097959:A:G Identity +NM_014872.3:c.524T>C NP_055687.1:p.Met175Thr NC_000009.12:37442027:A:G p.(Met175Thr) NC_000009.12:37442027:A:G p.(Met175Thr) NC_000009.12:37442027:A:G Identity +NM_001195822.2:c.593A>C NP_001182751.1:p.Asp198Ala NC_000009.12:112441716:A:C p.(Asp198Ala) NC_000009.12:112441716:A:C p.(Asp198Ala) NC_000009.12:112441716:A:C Identity +NM_001858.6:c.3062A>G NP_001849.2:p.Tyr1021Cys NC_000006.12:70190348:A:G p.(Tyr1021Cys) NC_000006.12:70190348:A:G p.(Tyr1021Cys) NC_000006.12:70190348:A:G Identity +NM_001080409.3:c.1271C>G NP_001073878.2:p.Pro424Arg NC_000019.10:22758637:G:C p.(Pro424Arg) NC_000019.10:22758637:G:C p.(Pro424Arg) NC_000019.10:22758637:G:C Identity +NM_005430.4:c.913C>G NP_005421.1:p.Leu305Val NC_000012.12:48981439:C:G p.(Leu305Val) NC_000012.12:48981439:C:G p.(Leu305Val) NC_000012.12:48981439:C:G Identity +NM_001010861.3:c.362G>A NP_001010861.1:p.Arg121Gln NC_000001.11:98956616:C:T p.(Arg121Gln) NC_000001.11:98956616:C:T p.(Arg121Gln) NC_000001.11:98956616:C:T Identity +NM_000296.4:c.857C>G NP_000287.4:p.Ser286Cys NC_000016.10:2118134:G:C p.(Ser286Cys) NC_000016.10:2118134:G:C p.(Ser286Cys) NC_000016.10:2118134:G:C Identity +NM_024857.5:c.1186A>G NP_079133.3:p.Thr396Ala NC_000017.11:30835266:A:G p.(Thr396Ala) NC_000017.11:30835266:A:G p.(Thr396Ala) NC_000017.11:30835266:A:G Identity +NM_032430.2:c.386C>T NP_115806.1:p.Thr129Met NC_000019.10:55289547:C:T p.(Thr129Met) NC_000019.10:55289547:C:T p.(Thr129Met) NC_000019.10:55289547:C:T Identity +NM_001168478.2:c.1613A>G NP_001161950.1:p.Asp538Gly NC_000023.11:102603753:A:G p.(Asp538Gly) NC_000023.11:102603753:A:G p.(Asp538Gly) NC_000023.11:102603753:A:G Identity +NM_001077205.1:c.2248C>T NP_001070673.1:p.Arg750Cys NC_000012.12:43443832:G:A ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found +NM_002016.2:c.7885C>T NP_002007.1:p.Arg2629Cys NC_000001.11:152307000:G:A p.(Arg2629Cys) NC_000001.11:152307000:G:A p.(Arg2629Cys) NC_000001.11:152307000:G:A Identity +NM_001378418.1:c.2974C>T NP_001365347.1:p.Pro992Ser NC_000022.11:42212331:G:A p.(Pro992Ser) NC_000022.11:42212331:G:A p.(Pro992Ser) NC_000022.11:42212331:G:A Identity +NM_015641.4:c.136T>C NP_056456.1:p.Cys46Arg NC_000007.14:116249041:T:C p.(Cys46Arg) NC_000007.14:116249041:T:C p.(Cys46Arg) NC_000007.14:116249041:T:C Identity +NM_001277128.2:c.1208T>C NP_001264057.1:p.Leu403Pro NC_000003.12:169840264:A:G p.(Leu403Pro) NC_000003.12:169840264:A:G p.(Leu403Pro) NC_000003.12:169840264:A:G Identity +NM_001024924.2:c.554C>T NP_001020095.1:p.Ala185Val NC_000004.12:55868473:C:T p.(Ala185Val) NC_000004.12:55868473:C:T p.(Ala185Val) NC_000004.12:55868473:C:T Identity +NM_173628.4:c.856G>A NP_775899.3:p.Val286Met NC_000017.11:78571009:C:T p.(Val286Met) NC_000017.11:78571009:C:T p.(Val286Met) NC_000017.11:78571009:C:T Identity +NM_001190995.2:c.106G>A NP_001177924.1:p.Val36Ile NC_000012.12:30676505:C:T p.(Val36Ile) NC_000012.12:30676505:C:T p.(Val36Ile) NC_000012.12:30676505:C:T Identity +NM_015180.6:c.3766C>T NP_055995.4:p.Arg1256Cys NC_000014.9:64002060:C:T p.(Arg1256Cys) NC_000014.9:64002060:C:T p.(Arg1256Cys) NC_000014.9:64002060:C:T Identity +NM_001145464.2:c.554G>A NP_001138936.1:p.Arg185His NC_000003.12:38523958:G:A p.(Arg185His) NC_000003.12:38523958:G:A p.(Arg185His) NC_000003.12:38523958:G:A Identity +NM_001136046.3:c.1184C>T NP_001129518.1:p.Ala395Val NC_000017.11:4743341:C:T p.(Ala395Val) NC_000017.11:4743341:C:T p.(Ala395Val) NC_000017.11:4743341:C:T Identity +NM_001447.3:c.6517A>C NP_001438.1:p.Ser2173Arg NC_000005.10:151544609:T:G p.(Ser2173Arg) NC_000005.10:151544609:T:G p.(Ser2173Arg) NC_000005.10:151544609:T:G Identity +NM_001242546.2:c.86C>A NP_001229475.1:p.Ala29Asp NC_000010.11:72223999:C:A p.(Ala29Asp) NC_000010.11:72223999:C:A p.(Ala29Asp) NC_000010.11:72223999:C:A Identity +NM_001308083.2:c.235G>A NP_001295012.1:p.Gly79Ser NC_000014.9:24506059:C:T p.(Gly79Ser) NC_000014.9:24506059:C:T p.(Gly79Ser) NC_000014.9:24506059:C:T Identity +NM_152446.5:c.1827A>C NP_689659.2:p.Lys609Asn NC_000014.9:80785278:T:G p.(Lys609Asn) NC_000014.9:80785278:T:G p.(Lys609Asn) NC_000014.9:80785278:T:G Identity +NM_001018054.3:c.376G>A NP_001018064.1:p.Val126Met NC_000001.11:53280706:C:T p.(Val126Met) NC_000001.11:53280706:C:T p.(Val126Met) NC_000001.11:53280706:C:T Identity +NM_178839.5:c.1199G>C NP_849161.2:p.Gly400Ala NC_000002.12:80302620:C:G p.(Gly400Ala) NC_000002.12:80302620:C:G p.(Gly400Ala) NC_000002.12:80302620:C:G Identity +NM_022041.4:c.356C>T NP_071324.1:p.Thr119Ile NC_000016.10:81354477:C:T p.(Thr119Ile) NC_000016.10:81354477:C:T p.(Thr119Ile) NC_000016.10:81354477:C:T Identity +NM_001136.5:c.763G>A NP_001127.1:p.Val255Ile NC_000006.12:32182626:C:T p.(Val255Ile) NC_000006.12:32182626:C:T p.(Val255Ile) NC_000006.12:32182626:C:T Identity +NM_001145434.2:c.53A>G NP_001138906.1:p.Gln18Arg NC_000019.10:52373150:A:G p.(Gln18Arg) NC_000019.10:52373150:A:G p.(Gln18Arg) NC_000019.10:52373150:A:G Identity +NM_001522.3:c.2917C>A NP_001513.2:p.Pro973Thr NC_000023.11:109388527:G:T p.(Pro973Thr) NC_000023.11:109388527:G:T p.(Pro973Thr) NC_000023.11:109388527:G:T Identity +NM_001168468.2:c.328G>A NP_001161940.1:p.Val110Met NC_000011.10:119186687:G:A p.(Val110Met) NC_000011.10:119186687:G:A p.(Val110Met) NC_000011.10:119186687:G:A Identity +NM_001363692.2:c.257G>A NP_001350621.1:p.Arg86Gln NC_000014.9:95467854:C:T p.(Arg86Gln) NC_000014.9:95467854:C:T p.(Arg86Gln) NC_000014.9:95467854:C:T Identity +NM_139162.4:c.1093C>T NP_631901.2:p.Arg365Cys NC_000017.11:18264491:C:T p.(Arg365Cys) NC_000017.11:18264491:C:T p.(Arg365Cys) NC_000017.11:18264491:C:T Identity +NM_001145210.3:c.955G>A NP_001138682.1:p.Gly319Ser NC_000001.11:1419344:C:T p.(Gly319Ser) NC_000001.11:1419344:C:T p.(Gly319Ser) NC_000001.11:1419344:C:T Identity +NM_152640.5:c.904G>A NP_689853.3:p.Ala302Thr NC_000012.12:1953035:C:T p.(Ala302Thr) NC_000012.12:1953035:C:T p.(Ala302Thr) NC_000012.12:1953035:C:T Identity +NM_152418.4:c.608G>A NP_689631.1:p.Gly203Asp NC_000008.11:87873363:C:T p.(Gly203Asp) NC_000008.11:87873363:C:T p.(Gly203Asp) NC_000008.11:87873363:C:T Identity +NM_020884.7:c.5479C>T NP_065935.4:p.Arg1827Trp NC_000020.11:35001247:C:T p.(Arg1827Trp) NC_000020.11:35001247:C:T p.(Arg1827Trp) NC_000020.11:35001247:C:T Identity +NM_014214.3:c.8C>T NP_055029.1:p.Pro3Leu NC_000018.10:11981676:C:T p.(Pro3Leu) NC_000018.10:11981676:C:T p.(Pro3Leu) NC_000018.10:11981676:C:T Identity +NM_001301134.2:c.398A>G NP_001288063.1:p.Asp133Gly NC_000007.14:91874335:T:C p.(Asp133Gly) NC_000007.14:91874335:T:C p.(Asp133Gly) NC_000007.14:91874335:T:C Identity +NM_001301030.2:c.1376G>A NP_001287959.1:p.Arg459His NC_000019.10:42042648:C:T p.(Arg459His) NC_000019.10:42042648:C:T p.(Arg459His) NC_000019.10:42042648:C:T Identity +NM_002224.4:c.2011C>T NP_002215.2:p.Arg671Trp NC_000006.12:33668977:C:T p.(Arg671Trp) NC_000006.12:33668977:C:T p.(Arg671Trp) NC_000006.12:33668977:C:T Identity +NM_001318890.3:c.71C>T NP_001305819.1:p.Pro24Leu NC_000016.10:20691117:G:A p.(Pro24Leu) NC_000016.10:20691117:G:A p.(Pro24Leu) NC_000016.10:20691117:G:A Identity +NM_000540.3:c.9158G>A NP_000531.2:p.Arg3053Gln NC_000019.10:38511595:G:A p.(Arg3053Gln) NC_000019.10:38511595:G:A p.(Arg3053Gln) NC_000019.10:38511595:G:A Identity +NM_022066.4:c.1130A>C NP_071349.3:p.Gln377Pro NC_000017.11:76400171:T:G p.(Gln377Pro) NC_000017.11:76400171:T:G p.(Gln377Pro) NC_000017.11:76400171:T:G Identity +NM_138443.4:c.646T>A NP_612452.1:p.Ser216Thr NC_000018.10:46123343:T:A p.(Ser216Thr) NC_000018.10:46123343:T:A p.(Ser216Thr) NC_000018.10:46123343:T:A Identity +NM_001172698.2:c.2083G>A NP_001166169.1:p.Ala695Thr NC_000005.10:149836654:G:A p.(Ala695Thr) NC_000005.10:149836654:G:A p.(Ala695Thr) NC_000005.10:149836654:G:A Identity +NM_001306089.2:c.1934G>A NP_001293018.1:p.Ser645Asn NC_000018.10:76904418:G:A p.(Ser645Asn) NC_000018.10:76904418:G:A p.(Ser645Asn) NC_000018.10:76904418:G:A Identity +NM_001167738.2:c.2840C>A NP_001161210.1:p.Thr947Asn NC_000001.11:201808593:C:A p.(Thr947Asn) NC_000001.11:201808593:C:A p.(Thr947Asn) NC_000001.11:201808593:C:A Identity +NM_001258372.2:c.2320A>G NP_001245301.1:p.Ile774Val NC_000017.11:50555620:A:G p.(Ile774Val) NC_000017.11:50555620:A:G p.(Ile774Val) NC_000017.11:50555620:A:G Identity +NM_014935.5:c.2798T>G NP_055750.2:p.Leu933Arg NC_000001.11:204228814:A:C p.(Leu933Arg) NC_000001.11:204228814:A:C p.(Leu933Arg) NC_000001.11:204228814:A:C Identity +NM_003146.3:c.236A>T NP_003137.1:p.Glu79Val NC_000011.10:57334466:T:A p.(Glu79Val) NC_000011.10:57334466:T:A p.(Glu79Val) NC_000011.10:57334466:T:A Identity +NM_001317998.2:c.788A>T NP_001304927.1:p.Tyr263Phe NC_000019.10:53237938:T:A p.(Tyr263Phe) NC_000019.10:53237938:T:A p.(Tyr263Phe) NC_000019.10:53237938:T:A Identity +NM_001009921.3:c.3617A>G NP_001009921.1:p.Glu1206Gly NC_000003.12:184994013:A:G p.(Glu1206Gly) NC_000003.12:184994013:A:G p.(Glu1206Gly) NC_000003.12:184994013:A:G Identity +NM_001040260.4:c.1236A>G NP_001035350.2:p.Ile412Met NC_000004.12:150221779:A:G p.(Ile412Met) NC_000004.12:150221779:A:G p.(Ile412Met) NC_000004.12:150221779:A:G Identity +NM_001394372.1:c.2788C>T NP_001381301.1:p.Pro930Ser NC_000019.10:47694618:C:T p.(Pro930Ser) NC_000019.10:47694618:C:T p.(Pro930Ser) NC_000019.10:47694618:C:T Identity +NM_001378183.1:c.7037T>G NP_001365112.1:p.Phe2346Cys NC_000018.10:10696226:A:C p.(Phe2346Cys) NC_000018.10:10696226:A:C p.(Phe2346Cys) NC_000018.10:10696226:A:C Identity +NM_001297752.2:c.598A>G NP_001284681.1:p.Ile200Val NC_000019.10:43847615:A:G p.(Ile200Val) NC_000019.10:43847615:A:G p.(Ile200Val) NC_000019.10:43847615:A:G Identity +NM_001367963.1:c.386T>A NP_001354892.1:p.Ile129Lys NC_000011.10:7702233:A:T p.(Ile129Lys) NC_000011.10:7702233:A:T p.(Ile129Lys) NC_000011.10:7702233:A:T Identity +NM_001130146.2:c.373G>C NP_001123618.1:p.Ala125Pro NC_000012.12:428823:G:C p.(Ala125Pro) NC_000012.12:428823:G:C p.(Ala125Pro) NC_000012.12:428823:G:C Identity +NM_001031709.3:c.284G>T NP_001026879.2:p.Gly95Val NC_000010.11:88581649:C:A p.(Gly95Val) NC_000010.11:88581649:C:A p.(Gly95Val) NC_000010.11:88581649:C:A Identity +NM_002428.4:c.455C>T NP_002419.1:p.Thr152Met NC_000016.10:58039888:C:T p.(Thr152Met) NC_000016.10:58039888:C:T p.(Thr152Met) NC_000016.10:58039888:C:T Identity +NM_001017371.5:c.401G>A NP_001017371.3:p.Ser134Asn NC_000002.12:173955906:C:T p.(Ser134Asn) NC_000002.12:173955906:C:T p.(Ser134Asn) NC_000002.12:173955906:C:T Identity +NM_001261411.2:c.2848C>T NP_001248340.1:p.Arg950Trp NC_000012.12:131797334:C:T p.(Arg950Trp) NC_000012.12:131797334:C:T p.(Arg950Trp) NC_000012.12:131797334:C:T Identity +NM_181726.4:c.314G>C NP_859077.1:p.Trp105Ser NC_000004.12:185399610:G:C p.(Trp105Ser) NC_000004.12:185399610:G:C p.(Trp105Ser) NC_000004.12:185399610:G:C Identity +NM_001103167.1:c.574G>A NP_001096637.1:p.Glu192Lys NC_000019.10:10305875:C:T p.(Glu192Lys) NC_000019.10:10305875:C:T p.(Glu192Lys) NC_000019.10:10305875:C:T Identity +NM_001098536.2:c.1748T>C NP_001092006.1:p.Val583Ala NC_000012.12:6862543:T:C p.(Val583Ala) NC_000012.12:6862543:T:C p.(Val583Ala) NC_000012.12:6862543:T:C Identity +NM_001276468.2:c.707G>A NP_001263397.1:p.Arg236Gln NC_000012.12:57628842:C:T p.(Arg236Gln) NC_000012.12:57628842:C:T p.(Arg236Gln) NC_000012.12:57628842:C:T Identity +NM_001304263.2:c.680C>T NP_001291192.1:p.Pro227Leu NC_000011.10:36229185:C:T p.(Pro227Leu) NC_000011.10:36229185:C:T p.(Pro227Leu) NC_000011.10:36229185:C:T Identity +NM_145262.4:c.1307G>T NP_660305.2:p.Arg436Met NC_000003.12:52292860:G:T p.(Arg436Met) NC_000003.12:52292860:G:T p.(Arg436Met) NC_000003.12:52292860:G:T Identity +NM_014448.4:c.893C>T NP_055263.2:p.Ser298Phe NC_000001.11:3469463:C:T p.(Ser298Phe) NC_000001.11:3469463:C:T p.(Ser298Phe) NC_000001.11:3469463:C:T Identity +NM_178335.3:c.666G>T NP_848018.1:p.Gln222His NC_000003.12:191375278:G:T p.(Gln222His) NC_000003.12:191375278:G:T p.(Gln222His) NC_000003.12:191375278:G:T Identity +NM_001244959.2:c.1174G>A NP_001231888.1:p.Glu392Lys NC_000009.12:83290623:C:T p.(Glu392Lys) NC_000009.12:83290623:C:T p.(Glu392Lys) NC_000009.12:83290623:C:T Identity +NM_001270383.2:c.334C>G NP_001257312.1:p.Arg112Gly NC_000010.11:24990536:G:C p.(Arg112Gly) NC_000010.11:24990536:G:C p.(Arg112Gly) NC_000010.11:24990536:G:C Identity +NM_198450.6:c.732T>A NP_940852.3:p.Phe244Leu NC_000023.11:85087602:T:A p.(Phe244Leu) NC_000023.11:85087602:T:A p.(Phe244Leu) NC_000023.11:85087602:T:A Identity +NM_000038.6:c.862A>G NP_000029.2:p.Thr288Ala NC_000005.10:112815521:A:G p.(Thr288Ala) NC_000005.10:112815521:A:G p.(Thr288Ala) NC_000005.10:112815521:A:G Identity +NM_024652.6:c.191G>C NP_078928.3:p.Arg64Pro NC_000015.10:100973896:G:C p.(Arg64Pro) NC_000015.10:100973896:G:C p.(Arg64Pro) NC_000015.10:100973896:G:C Identity +NM_172251.3:c.263C>T NP_758455.1:p.Pro88Leu NC_000019.10:3765309:C:T p.(Pro88Leu) NC_000019.10:3765309:C:T p.(Pro88Leu) NC_000019.10:3765309:C:T Identity +NM_013391.3:c.1180G>T NP_037523.2:p.Ala394Ser NC_000005.10:79042295:C:A p.(Ala394Ser) NC_000005.10:79042295:C:A p.(Ala394Ser) NC_000005.10:79042295:C:A Identity +NM_014913.4:c.2978G>A NP_055728.1:p.Gly993Glu NC_000018.10:80138390:G:A p.(Gly993Glu) NC_000018.10:80138390:G:A p.(Gly993Glu) NC_000018.10:80138390:G:A Identity +NM_015150.2:c.43C>T NP_055965.1:p.Arg15Trp NC_000003.12:16493826:G:A p.(Arg15Trp) NC_000003.12:16493826:G:A p.(Arg15Trp) NC_000003.12:16493826:G:A Identity +NM_001001921.2:c.161G>A NP_001001921.1:p.Ser54Asn NC_000011.10:56030578:G:A p.(Ser54Asn) NC_000011.10:56030578:G:A p.(Ser54Asn) NC_000011.10:56030578:G:A Identity +NM_019075.4:c.77G>A NP_061948.1:p.Gly26Glu NC_000002.12:233636598:G:A p.(Gly26Glu) NC_000002.12:233636598:G:A p.(Gly26Glu) NC_000002.12:233636598:G:A Identity +NM_001199144.2:c.1823A>T NP_001186073.1:p.Lys608Met NC_000002.12:167243880:A:T p.(Lys608Met) NC_000002.12:167243880:A:T p.(Lys608Met) NC_000002.12:167243880:A:T Identity +NM_001010848.4:c.1540G>A NP_001010848.2:p.Glu514Lys NC_000010.11:82979076:G:A p.(Glu514Lys) NC_000010.11:82979076:G:A p.(Glu514Lys) NC_000010.11:82979076:G:A Identity +NM_001321547.2:c.1139A>G NP_001308476.1:p.Lys380Arg NC_000002.12:200490241:T:C p.(Lys380Arg) NC_000002.12:200490241:T:C p.(Lys380Arg) NC_000002.12:200490241:T:C Identity +NM_001039355.3:c.805G>A NP_001034444.1:p.Val269Ile NC_000014.9:100292389:C:T p.(Val269Ile) NC_000014.9:100292389:C:T p.(Val269Ile) NC_000014.9:100292389:C:T Identity +NM_207330.3:c.59C>T NP_997213.1:p.Ser20Phe NC_000004.12:48025079:C:T p.(Ser20Phe) NC_000004.12:48025079:C:T p.(Ser20Phe) NC_000004.12:48025079:C:T Identity +NM_001283034.2:c.386A>G NP_001269963.1:p.Gln129Arg NC_000008.11:93704963:A:G p.(Gln129Arg) NC_000008.11:93704963:A:G p.(Gln129Arg) NC_000008.11:93704963:A:G Identity +NM_013271.5:c.220G>A NP_037403.1:p.Glu74Lys NC_000023.11:48832235:C:T p.(Glu74Lys) NC_000023.11:48832235:C:T p.(Glu74Lys) NC_000023.11:48832235:C:T Identity +NM_001324159.2:c.922T>C NP_001311088.1:p.Ser308Pro NC_000016.10:67987570:A:G p.(Ser308Pro) NC_000016.10:67987570:A:G p.(Ser308Pro) NC_000016.10:67987570:A:G Identity +NM_018938.4:c.1698T>G NP_061761.1:p.Asn566Lys NC_000005.10:141123695:T:G p.(Asn566Lys) NC_000005.10:141123695:T:G p.(Asn566Lys) NC_000005.10:141123695:T:G Identity +NM_015490.4:c.400G>A NP_056305.1:p.Gly134Ser NC_000010.11:100509101:C:T p.(Gly134Ser) NC_000010.11:100509101:C:T p.(Gly134Ser) NC_000010.11:100509101:C:T Identity +NM_001085486.3:c.605C>T NP_001078955.1:p.Ser202Leu NC_000005.10:42801260:G:A p.(Ser202Leu) NC_000005.10:42801260:G:A p.? NC_000005.10:42801260:G:A Identity +NM_001127892.2:c.2069T>C NP_001121364.1:p.Met690Thr NC_000016.10:51139861:A:G p.(Met690Thr) NC_000016.10:51139861:A:G p.(Met690Thr) NC_000016.10:51139861:A:G Identity +NM_004052.4:c.22G>A NP_004043.4:p.Gly8Arg NC_000010.11:131981784:C:T p.(Gly8Arg) NC_000010.11:131981784:C:T p.(Gly8Arg) NC_000010.11:131981784:C:T Identity +NM_020764.4:c.124G>A NP_065815.1:p.Val42Ile NC_000016.10:2190328:C:T p.(Val42Ile) NC_000016.10:2190328:C:T p.(Val42Ile) NC_000016.10:2190328:C:T Identity +NM_001114089.4:c.593G>A NP_001107561.2:p.Cys198Tyr NC_000020.11:25214912:G:A p.(Cys198Tyr) NC_000020.11:25214912:G:A p.(Cys198Tyr) NC_000020.11:25214912:G:A Identity +NM_173593.4:c.1982G>A NP_775864.3:p.Gly661Asp NC_000012.12:553904:G:A p.(Gly661Asp) NC_000012.12:553904:G:A p.(Gly661Asp) NC_000012.12:553904:G:A Identity +NM_001166131.2:c.1645G>A NP_001159603.1:p.Glu549Lys NC_000017.11:50380831:G:A p.(Glu549Lys) NC_000017.11:50380831:G:A p.(Glu549Lys) NC_000017.11:50380831:G:A Identity +NM_007205.3:c.128C>T NP_009136.1:p.Pro43Leu NC_000023.11:153445302:G:A ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:Data provider error: ValueError: Transcript NM_007205.3 not found ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007205.3, alt_ac=NM_007205.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007205.3 not found +NM_033031.3:c.4105G>A NP_149020.2:p.Val1369Ile NC_000023.11:50351619:G:A p.(Val1369Ile) NC_000023.11:50351619:G:A p.(Val1369Ile) NC_000023.11:50351619:G:A Identity +NM_001304342.2:c.1071G>T NP_001291271.1:p.Met357Ile NC_000001.11:156042908:C:A p.(Met357Ile) NC_000001.11:156042908:C:A p.(Met357Ile) NC_000001.11:156042908:C:A Identity +NM_004525.3:c.381C>G NP_004516.2:p.Cys127Trp NC_000002.12:169307326:G:C p.(Cys127Trp) NC_000002.12:169307326:G:C p.(Cys127Trp) NC_000002.12:169307326:G:C Identity +NM_001160213.2:c.706C>T NP_001153685.1:p.Arg236Trp NC_000016.10:72136509:G:A p.(Arg236Trp) NC_000016.10:72136509:G:A p.(Arg236Trp) NC_000016.10:72136509:G:A Identity +NM_001004733.3:c.167C>G NP_001004733.1:p.Pro56Arg NC_000011.10:58439984:G:C p.(Pro56Arg) NC_000011.10:58439984:G:C p.(Pro56Arg) NC_000011.10:58439984:G:C Identity +NM_001282669.2:c.768G>T NP_001269598.1:p.Met256Ile NC_000001.11:3872485:G:T p.(Met256Ile) NC_000001.11:3872485:G:T p.(Met256Ile) NC_000001.11:3872485:G:T Identity +NM_001029860.4:c.547G>A NP_001025031.2:p.Val183Ile NC_000008.11:100141706:C:T p.(Val183Ile) NC_000008.11:100141706:C:T p.(Val183Ile) NC_000008.11:100141706:C:T Identity +NM_001114397.2:c.1447G>A NP_001107869.1:p.Val483Ile NC_000003.12:154300607:C:T p.(Val483Ile) NC_000003.12:154300607:C:T p.(Val483Ile) NC_000003.12:154300607:C:T Identity +NM_001002909.4:c.3185G>A NP_001002909.1:p.Gly1062Asp NC_000017.11:44398891:C:T p.(Gly1062Asp) NC_000017.11:44398891:C:T p.(Gly1062Asp) NC_000017.11:44398891:C:T Identity +NM_017906.3:c.158G>A NP_060376.2:p.Arg53His NC_000006.12:10697396:G:A p.(Arg53His) NC_000006.12:10697396:G:A p.(Arg53His) NC_000006.12:10697396:G:A Identity +NM_003890.3:c.1987G>C NP_003881.2:p.Gly663Arg NC_000019.10:39918308:C:G p.(Gly663Arg) NC_000019.10:39918308:C:G p.(Gly663Arg) NC_000019.10:39918308:C:G Identity +NM_001077665.3:c.1607T>G NP_001071133.2:p.Val536Gly NC_000010.11:50009731:T:G p.(Val536Gly) NC_000010.11:50009731:T:G p.(Val536Gly) NC_000010.11:50009731:T:G Identity +NM_001320559.2:c.1124C>G NP_001307488.1:p.Ser375Cys NC_000003.12:39143760:G:C p.(Ser375Cys) NC_000003.12:39143760:G:C p.(Ser375Cys) NC_000003.12:39143760:G:C Identity +NM_001099646.3:c.464T>C NP_001093116.1:p.Met155Thr NC_000017.11:19712724:A:G p.(Met155Thr) NC_000017.11:19712724:A:G p.(Met155Thr) NC_000017.11:19712724:A:G Identity +NM_001242487.2:c.1025G>A NP_001229416.1:p.Arg342His NC_000010.11:73791057:G:A p.(Arg342His) NC_000010.11:73791057:G:A p.(Arg342His) NC_000010.11:73791057:G:A Identity +NM_003128.3:c.5368C>G NP_003119.2:p.Leu1790Val NC_000002.12:54649779:C:G p.(Leu1790Val) NC_000002.12:54649779:C:G p.(Leu1790Val) NC_000002.12:54649779:C:G Identity +NM_001386974.1:c.1099C>T NP_001373903.1:p.Arg367Trp NC_000019.10:17988453:C:T p.(Arg367Trp) NC_000019.10:17988453:C:T p.(Arg367Trp) NC_000019.10:17988453:C:T Identity +NM_001199281.1:c.3074G>A NP_001186210.1:p.Ser1025Asn NC_000022.11:24084741:G:A p.(Ser1025Asn) NC_000022.11:24084741:G:A p.(Ser1025Asn) NC_000022.11:24084741:G:A Identity +NM_001141973.3:c.3254C>T NP_001135445.1:p.Ser1085Phe NC_000001.11:16986598:G:A p.(Ser1085Phe) NC_000001.11:16986598:G:A p.(Ser1085Phe) NC_000001.11:16986598:G:A Identity +NM_153834.4:c.4510A>T NP_722576.3:p.Met1504Leu NC_000023.11:136348215:A:T p.(Met1504Leu) NC_000023.11:136348215:A:T p.(Met1504Leu) NC_000023.11:136348215:A:T Identity +NM_001010923.3:c.988A>G NP_001010923.1:p.Arg330Gly NC_000006.12:127813652:T:C p.(Arg330Gly) NC_000006.12:127813652:T:C p.(Arg330Gly) NC_000006.12:127813652:T:C Identity +NM_173651.4:c.5927T>G NP_775922.3:p.Phe1976Cys NC_000002.12:185793062:T:G p.(Phe1976Cys) NC_000002.12:185793062:T:G p.(Phe1976Cys) NC_000002.12:185793062:T:G Identity +NM_001378205.1:c.4375C>T NP_001365134.1:p.Arg1459Trp NC_000018.10:8824927:C:T p.(Arg1459Trp) NC_000018.10:8824927:C:T p.(Arg1459Trp) NC_000018.10:8824927:C:T Identity +NM_001366652.1:c.2215G>A NP_001353581.1:p.Val739Met NC_000005.10:160620547:C:T p.(Val739Met) NC_000005.10:160620547:C:T p.(Val739Met) NC_000005.10:160620547:C:T Identity +NM_023067.4:c.934C>A NP_075555.1:p.His312Asn NC_000003.12:138945788:G:T p.(His312Asn) NC_000003.12:138945788:G:T p.(His312Asn) NC_000003.12:138945788:G:T Identity +NM_030761.5:c.859G>A NP_110388.2:p.Gly287Ser NC_000001.11:22120246:C:T p.(Gly287Ser) NC_000001.11:22120246:C:T p.(Gly287Ser) NC_000001.11:22120246:C:T Identity +NM_004044.7:c.1453G>A NP_004035.2:p.Ala485Thr NC_000002.12:215346890:G:A p.(Ala485Thr) NC_000002.12:215346890:G:A p.(Ala485Thr) NC_000002.12:215346890:G:A Identity +NM_001282755.2:c.1319T>G NP_001269684.1:p.Phe440Cys NC_000002.12:42709060:T:G p.(Phe440Cys) NC_000002.12:42709060:T:G p.(Phe440Cys) NC_000002.12:42709060:T:G Identity +NM_001350748.2:c.817G>A NP_001337677.1:p.Val273Ile NC_000013.11:101292348:C:T p.(Val273Ile) NC_000013.11:101292348:C:T p.(Val273Ile) NC_000013.11:101292348:C:T Identity +NM_152513.4:c.913A>G NP_689726.3:p.Ile305Val NC_000022.11:41729712:A:G p.(Ile305Val) NC_000022.11:41729712:A:G p.(Ile305Val) NC_000022.11:41729712:A:G Identity +NM_020840.3:c.65C>T NP_065891.1:p.Ala22Val NC_000004.12:158769276:C:T p.(Ala22Val) NC_000004.12:158769276:C:T p.(Ala22Val) NC_000004.12:158769276:C:T Identity +NM_001100399.2:c.3758C>G NP_001093869.1:p.Thr1253Arg NC_000004.12:39838107:G:C p.(Thr1253Arg) NC_000004.12:39838107:G:C p.(Thr1253Arg) NC_000004.12:39838107:G:C Identity +NM_001303276.2:c.1820T>C NP_001290205.1:p.Leu607Pro NC_000017.11:75235665:T:C p.(Leu607Pro) NC_000017.11:75235665:T:C p.(Leu607Pro) NC_000017.11:75235665:T:C Identity +NM_001146006.2:c.176G>C NP_001139478.1:p.Gly59Ala NC_000016.10:1792355:C:G p.(Gly59Ala) NC_000016.10:1792355:C:G p.(Gly59Ala) NC_000016.10:1792355:C:G Identity +NM_001278119.2:c.1073C>A NP_001265048.1:p.Ala358Asp NC_000006.12:28153352:C:A p.(Ala358Asp) NC_000006.12:28153352:C:A p.(Ala358Asp) NC_000006.12:28153352:C:A Identity +NM_001447.3:c.9844G>C NP_001438.1:p.Glu3282Gln NC_000005.10:151529359:C:G p.(Glu3282Gln) NC_000005.10:151529359:C:G p.(Glu3282Gln) NC_000005.10:151529359:C:G Identity +NM_001042573.3:c.1915C>T NP_001036038.1:p.Pro639Ser NC_000017.11:79086031:C:T p.(Pro639Ser) NC_000017.11:79086031:C:T p.(Pro639Ser) NC_000017.11:79086031:C:T Identity +NM_001350929.2:c.2467A>T NP_001337858.1:p.Ser823Cys NC_000014.9:104952683:T:A p.(Ser823Cys) NC_000014.9:104952683:T:A p.(Ser823Cys) NC_000014.9:104952683:T:A Identity +NM_001159749.2:c.967G>C NP_001153221.1:p.Asp323His NC_000005.10:97167896:C:G p.(Asp323His) NC_000005.10:97167896:C:G p.(Asp323His) NC_000005.10:97167896:C:G Identity +NM_001329630.2:c.19G>C NP_001316559.1:p.Gly7Arg NC_000011.10:17014382:C:G p.(Gly7Arg) NC_000011.10:17014382:C:G p.(Gly7Arg) NC_000011.10:17014382:C:G Identity +NM_000540.3:c.10529T>G NP_000531.2:p.Ile3510Ser NC_000019.10:38525404:T:G p.(Ile3510Ser) NC_000019.10:38525404:T:G p.(Ile3510Ser) NC_000019.10:38525404:T:G Identity +NM_001288800.2:c.1145A>G NP_001275729.1:p.Tyr382Cys NC_000019.10:37152753:T:C p.(Tyr382Cys) NC_000019.10:37152753:T:C p.(Tyr382Cys) NC_000019.10:37152753:T:C Identity +NM_001145144.2:c.565A>G NP_001138616.1:p.Ile189Val NC_000019.10:46777214:T:C p.(Ile189Val) NC_000019.10:46777214:T:C p.(Ile189Val) NC_000019.10:46777214:T:C Identity +NM_001080421.3:c.4163A>G NP_001073890.2:p.Lys1388Arg NC_000019.10:17624862:T:C p.(Lys1388Arg) NC_000019.10:17624862:T:C p.(Lys1388Arg) NC_000019.10:17624862:T:C Identity +NM_153015.3:c.238G>T NP_694560.1:p.Ala80Ser NC_000008.11:108784860:C:A p.(Ala80Ser) NC_000008.11:108784860:C:A p.(Ala80Ser) NC_000008.11:108784860:C:A Identity +NM_001130009.3:c.1668T>G NP_001123481.3:p.Ile556Met NC_000002.12:17780879:T:G p.(Ile556Met) NC_000002.12:17780879:T:G p.(Ile556Met) NC_000002.12:17780879:T:G Identity +NM_000276.4:c.1718T>C NP_000267.2:p.Val573Ala NC_000023.11:129575900:T:C p.(Val573Ala) NC_000023.11:129575900:T:C p.(Val573Ala) NC_000023.11:129575900:T:C Identity +NM_001085458.2:c.1315C>T NP_001078927.1:p.Arg439Cys NC_000011.10:57802090:C:T p.(Arg439Cys) NC_000011.10:57802090:C:T p.(Arg439Cys) NC_000011.10:57802090:C:T Identity +NM_014550.4:c.278A>G NP_055365.2:p.Tyr93Cys NC_000022.11:37518065:T:C p.(Tyr93Cys) NC_000022.11:37518065:T:C p.(Tyr93Cys) NC_000022.11:37518065:T:C Identity +NM_001304447.2:c.677G>T NP_001291376.1:p.Arg226Leu NC_000012.12:108210299:G:T p.(Arg226Leu) NC_000012.12:108210299:G:T p.(Arg226Leu) NC_000012.12:108210299:G:T Identity +NM_005772.5:c.188G>A NP_005763.3:p.Arg63Gln NC_000009.12:4823598:G:A p.(Arg63Gln) NC_000009.12:4823598:G:A p.(Arg63Gln) NC_000009.12:4823598:G:A Identity +NM_004104.5:c.2027G>T NP_004095.4:p.Arg676Leu NC_000017.11:82089322:C:A p.(Arg676Leu) NC_000017.11:82089322:C:A p.(Arg676Leu) NC_000017.11:82089322:C:A Identity +NM_001206855.3:c.1883A>G NP_001193784.1:p.Asn628Ser NC_000007.14:100620866:T:C p.(Asn628Ser) NC_000007.14:100620866:T:C p.(Asn628Ser) NC_000007.14:100620866:T:C Identity +NM_001098406.4:c.65A>G NP_001091876.2:p.Glu22Gly NC_000023.11:49323257:A:G p.(Glu22Gly) NC_000023.11:49323257:A:G p.(Glu22Gly) NC_000023.11:49323257:A:G Identity +NM_001145666.2:c.2216G>A NP_001139138.1:p.Arg739Gln NC_000016.10:74470053:C:T p.(Arg739Gln) NC_000016.10:74470053:C:T p.(Arg739Gln) NC_000016.10:74470053:C:T Identity +NM_032693.3:c.449A>G NP_116082.1:p.Asp150Gly NC_000004.12:79325428:T:C p.(Asp150Gly) NC_000004.12:79325428:T:C p.(Asp150Gly) NC_000004.12:79325428:T:C Identity +NM_001199281.1:c.635C>T NP_001186210.1:p.Ser212Phe NC_000022.11:24049198:C:T p.(Ser212Phe) NC_000022.11:24049198:C:T p.(Ser212Phe) NC_000022.11:24049198:C:T Identity +NM_001377958.1:c.2606C>A NP_001364887.1:p.Thr869Asn NC_000009.12:8486210:G:T p.(Thr869Asn) NC_000009.12:8486210:G:T p.(Thr869Asn) NC_000009.12:8486210:G:T Identity +NM_001110.4:c.194A>C NP_001101.1:p.His65Pro NC_000015.10:58717588:T:G p.(His65Pro) NC_000015.10:58717588:T:G p.(His65Pro) NC_000015.10:58717588:T:G Identity +NM_001142703.2:c.1487C>T NP_001136175.1:p.Pro496Leu NC_000011.10:59125673:C:T p.(Pro496Leu) NC_000011.10:59125673:C:T p.(Pro496Leu) NC_000011.10:59125673:C:T Identity +NM_001321173.2:c.19C>T NP_001308102.1:p.His7Tyr NC_000017.11:54900883:C:T p.(His7Tyr) NC_000017.11:54900883:C:T p.(His7Tyr) NC_000017.11:54900883:C:T Identity +NM_004855.5:c.1595G>A NP_004846.4:p.Arg532Gln NC_000015.10:55355361:G:A p.(Arg532Gln) NC_000015.10:55355361:G:A p.(Arg532Gln) NC_000015.10:55355361:G:A Identity +NM_001044369.3:c.8G>C NP_001037834.2:p.Arg3Pro NC_000018.10:74457251:C:G p.(Arg3Pro) NC_000018.10:74457251:C:G p.(Arg3Pro) NC_000018.10:74457251:C:G Identity +NM_001130960.2:c.3039A>G NP_001124432.1:p.Ile1013Met NC_000003.12:155483010:T:C p.(Ile1013Met) NC_000003.12:155483010:T:C p.(Ile1013Met) NC_000003.12:155483010:T:C Identity +NM_001354849.2:c.2308G>C NP_001341778.1:p.Asp770His NC_000007.14:30447027:C:G p.(Asp770His) NC_000007.14:30447027:C:G p.(Asp770His) NC_000007.14:30447027:C:G Identity +NM_001265612.2:c.1016A>C NP_001252541.1:p.Glu339Ala NC_000016.10:58582820:T:G p.(Glu339Ala) NC_000016.10:58582820:T:G p.(Glu339Ala) NC_000016.10:58582820:T:G Identity +NM_001393928.1:c.2443C>T NP_001380857.1:p.Leu815Phe NC_000015.10:42349406:C:T p.(Leu815Phe) NC_000015.10:42349406:C:T p.(Leu815Phe) NC_000015.10:42349406:C:T Identity +NM_152462.2:c.310G>T NP_689675.1:p.Ala104Ser NC_000017.11:35193997:C:A p.(Ala104Ser) NC_000017.11:35193997:C:A p.(Ala104Ser) NC_000017.11:35193997:C:A Identity +NM_003013.3:c.539A>G NP_003004.1:p.Asp180Gly NC_000004.12:153785907:T:C p.(Asp180Gly) NC_000004.12:153785907:T:C p.(Asp180Gly) NC_000004.12:153785907:T:C Identity +NM_025004.3:c.1396A>G NP_079280.2:p.Lys466Glu NC_000011.10:124987621:A:G p.(Lys466Glu) NC_000011.10:124987621:A:G p.(Lys466Glu) NC_000011.10:124987621:A:G Identity +NM_004963.4:c.1922C>A NP_004954.2:p.Pro641Gln NC_000012.12:14643581:G:T p.(Pro641Gln) NC_000012.12:14643581:G:T p.(Pro641Gln) NC_000012.12:14643581:G:T Identity +NM_001199103.2:c.1277A>G NP_001186032.1:p.His426Arg NC_000002.12:18576241:T:C p.(His426Arg) NC_000002.12:18576241:T:C p.(His426Arg) NC_000002.12:18576241:T:C Identity +NM_017632.4:c.784T>A NP_060102.1:p.Ser262Thr NC_000004.12:183446467:T:A p.(Ser262Thr) NC_000004.12:183446467:T:A p.(Ser262Thr) NC_000004.12:183446467:T:A Identity +NM_001415871.1:c.9722G>A NP_001402800.1:p.Arg3241Lys NC_000002.12:108783869:G:A p.(Arg3241Lys) NC_000002.12:108783869:G:A p.(Arg3241Lys) NC_000002.12:108783869:G:A Identity +NM_000168.6:c.1142T>C NP_000159.3:p.Ile381Thr NC_000007.14:42026298:A:G p.(Ile381Thr) NC_000007.14:42026298:A:G p.(Ile381Thr) NC_000007.14:42026298:A:G Identity +NM_182703.6:c.1142G>A NP_874362.3:p.Arg381His NC_000015.10:64944727:G:A p.(Arg381His) NC_000015.10:64944727:G:A p.(Arg381His) NC_000015.10:64944727:G:A Identity +NM_001206794.2:c.3478G>A NP_001193723.1:p.Ala1160Thr NC_000001.11:235175369:C:T p.(Ala1160Thr) NC_000001.11:235175369:C:T p.(Ala1160Thr) NC_000001.11:235175369:C:T Identity +NM_001009814.2:c.1082G>T NP_001009814.1:p.Arg361Leu NC_000013.11:41868475:C:A p.(Arg361Leu) NC_000013.11:41868475:C:A p.(Arg361Leu) NC_000013.11:41868475:C:A Identity +NM_001080412.3:c.2099G>A NP_001073881.2:p.Ser700Asn NC_000003.12:141444486:G:A p.(Ser700Asn) NC_000003.12:141444486:G:A p.(Ser700Asn) NC_000003.12:141444486:G:A Identity +NM_001258206.2:c.1633C>T NP_001245135.1:p.Arg545Cys NC_000019.10:6833549:C:T p.(Arg545Cys) NC_000019.10:6833549:C:T p.(Arg545Cys) NC_000019.10:6833549:C:T Identity +NM_001042385.2:c.412G>A NP_001035844.1:p.Asp138Asn NC_000002.12:44343948:C:T p.(Asp138Asn) NC_000002.12:44343948:C:T p.(Asp138Asn) NC_000002.12:44343948:C:T Identity +NM_144682.6:c.2630T>A NP_653283.3:p.Ile877Asn NC_000017.11:35440658:A:T p.(Ile877Asn) NC_000017.11:35440658:A:T p.(Ile877Asn) NC_000017.11:35440658:A:T Identity +NM_001018009.4:c.107G>A NP_001018009.2:p.Arg36His NC_000003.12:15262206:C:T p.(Arg36His) NC_000003.12:15262206:C:T p.(Arg36His) NC_000003.12:15262206:C:T Identity +NM_014611.3:c.4912T>G NP_055426.1:p.Cys1638Gly NC_000006.12:89732586:A:C p.(Cys1638Gly) NC_000006.12:89732586:A:C p.(Cys1638Gly) NC_000006.12:89732586:A:C Identity +NM_001005471.2:c.800C>A NP_001005471.1:p.Thr267Asn NC_000001.11:248388407:C:A p.(Thr267Asn) NC_000001.11:248388407:C:A p.(Thr267Asn) NC_000001.11:248388407:C:A Identity +NM_001260486.2:c.395C>T NP_001247415.2:p.Ser132Phe NC_000019.10:43996251:C:T p.(Ser132Phe) NC_000019.10:43996251:C:T p.(Ser132Phe) NC_000019.10:43996251:C:T Identity +NM_001146688.2:c.1099G>C NP_001140160.1:p.Gly367Arg NC_000002.12:86466462:G:C p.(Gly367Arg) NC_000002.12:86466462:G:C p.(Gly367Arg) NC_000002.12:86466462:G:C Identity +NM_001102651.2:c.59C>T NP_001096121.1:p.Ala20Val NC_000019.10:2823044:C:T p.(Ala20Val) NC_000019.10:2823044:C:T p.(Ala20Val) NC_000019.10:2823044:C:T Identity +NM_001199809.2:c.998T>C NP_001186738.1:p.Leu333Pro NC_000001.11:211981177:A:G p.(Leu333Pro) NC_000001.11:211981177:A:G p.(Leu333Pro) NC_000001.11:211981177:A:G Identity +NM_001330640.2:c.4666A>G NP_001317569.1:p.Ile1556Val NC_000009.12:19352549:A:G p.(Ile1556Val) NC_000009.12:19352549:A:G p.(Ile1556Val) NC_000009.12:19352549:A:G Identity +NM_014916.4:c.3718A>C NP_055731.2:p.Asn1240His NC_000007.14:98194182:A:C p.(Asn1240His) NC_000007.14:98194182:A:C p.(Asn1240His) NC_000007.14:98194182:A:C Identity +NM_001379150.1:c.1473C>A NP_001366079.1:p.Asn491Lys NC_000023.11:108734871:G:T p.(Asn491Lys) NC_000023.11:108734871:G:T p.(Asn491Lys) NC_000023.11:108734871:G:T Identity +NM_001289032.2:c.310G>A NP_001275961.1:p.Ala104Thr NC_000014.9:94563680:G:A p.(Ala104Thr) NC_000014.9:94563680:G:A p.(Ala104Thr) NC_000014.9:94563680:G:A Identity +NM_001195794.1:c.496A>G NP_001182723.1:p.Ile166Val NC_000003.12:150928177:T:C p.(Ile166Val) NC_000003.12:150928177:T:C p.(Ile166Val) NC_000003.12:150928177:T:C Identity +NM_015909.4:c.6901G>A NP_056993.2:p.Val2301Met NC_000002.12:15167262:C:T p.(Val2301Met) NC_000002.12:15167262:C:T p.(Val2301Met) NC_000002.12:15167262:C:T Identity +NM_001315529.2:c.2227G>A NP_001302458.1:p.Ala743Thr NC_000021.9:46363905:G:A p.(Ala743Thr) NC_000021.9:46363905:G:A p.(Ala743Thr) NC_000021.9:46363905:G:A Identity +NM_014572.3:c.1609T>C NP_055387.2:p.Cys537Arg NC_000013.11:20988170:A:G p.(Cys537Arg) NC_000013.11:20988170:A:G p.(Cys537Arg) NC_000013.11:20988170:A:G Identity +NM_004638.4:c.5839C>T NP_004629.3:p.Arg1947Cys NC_000006.12:31636512:C:T p.(Arg1947Cys) NC_000006.12:31636512:C:T p.(Arg1947Cys) NC_000006.12:31636512:C:T Identity +NM_012420.3:c.732A>C NP_036552.1:p.Gln244His NC_000010.11:89417930:A:C p.(Gln244His) NC_000010.11:89417930:A:C p.(Gln244His) NC_000010.11:89417930:A:C Identity +NM_001010969.4:c.140C>G NP_001010969.2:p.Ala47Gly NC_000001.11:47137624:C:G p.(Ala47Gly) NC_000001.11:47137624:C:G p.(Ala47Gly) NC_000001.11:47137624:C:G Identity +NM_004890.3:c.476C>G NP_004881.2:p.Pro159Arg NC_000017.11:4959857:G:C p.(Pro159Arg) NC_000017.11:4959857:G:C p.(Pro159Arg) NC_000017.11:4959857:G:C Identity +NM_001201457.2:c.1888G>A NP_001188386.1:p.Glu630Lys NC_000017.11:58599474:C:T p.(Glu630Lys) NC_000017.11:58599474:C:T p.(Glu630Lys) NC_000017.11:58599474:C:T Identity +NM_001098511.3:c.1001G>A NP_001091981.1:p.Cys334Tyr NC_000005.10:62361502:G:A p.(Cys334Tyr) NC_000005.10:62361502:G:A p.(Cys334Tyr) NC_000005.10:62361502:G:A Identity +NM_001134453.3:c.3118T>A NP_001127925.1:p.Ser1040Thr NC_000018.10:31413532:T:A p.(Ser1040Thr) NC_000018.10:31413532:T:A p.(Ser1040Thr) NC_000018.10:31413532:T:A Identity +NM_001286349.2:c.1213G>A NP_001273278.1:p.Ala405Thr NC_000001.11:158093379:G:A p.(Ala405Thr) NC_000001.11:158093379:G:A p.(Ala405Thr) NC_000001.11:158093379:G:A Identity +NM_001135050.2:c.2684C>A NP_001128522.1:p.Pro895His NC_000001.11:159928703:G:T p.(Pro895His) NC_000001.11:159928703:G:T p.(Pro895His) NC_000001.11:159928703:G:T Identity +NM_001001556.3:c.455G>A NP_001001556.1:p.Gly152Glu NC_000015.10:49239350:G:A p.(Gly152Glu) NC_000015.10:49239350:G:A p.(Gly152Glu) NC_000015.10:49239350:G:A Identity +NM_001301849.2:c.82G>A NP_001288778.1:p.Asp28Asn NC_000022.11:40404359:G:A p.(Asp28Asn) NC_000022.11:40404359:G:A p.(Asp28Asn) NC_000022.11:40404359:G:A Identity +NM_001008491.3:c.183T>A NP_001008491.1:p.Asp61Glu NC_000002.12:241335177:T:A p.(Asp61Glu) NC_000002.12:241335177:T:A p.(Asp61Glu) NC_000002.12:241335177:T:A Identity +NM_001113410.2:c.34C>G NP_001106881.1:p.His12Asp NC_000019.10:43026338:G:C p.(His12Asp) NC_000019.10:43026338:G:C p.(His12Asp) NC_000019.10:43026338:G:C Identity +NM_001368073.2:c.2864C>T NP_001355002.1:p.Pro955Leu NC_000015.10:56094572:G:A p.(Pro955Leu) NC_000015.10:56094572:G:A p.(Pro955Leu) NC_000015.10:56094572:G:A Identity +NM_199242.3:c.2150C>T NP_954712.1:p.Ala717Val NC_000017.11:75834472:G:A p.(Ala717Val) NC_000017.11:75834472:G:A p.(Ala717Val) NC_000017.11:75834472:G:A Identity +NM_001382422.1:c.1990C>G NP_001369351.1:p.Arg664Gly NC_000019.10:45217535:G:C p.(Arg664Gly) NC_000019.10:45217535:G:C p.(Arg664Gly) NC_000019.10:45217535:G:C Identity +NM_019002.4:c.469A>C NP_061875.2:p.Ile157Leu NC_000002.12:67402900:A:C p.(Ile157Leu) NC_000002.12:67402900:A:C p.(Ile157Leu) NC_000002.12:67402900:A:C Identity +NM_001411010.1:c.2876G>A NP_001397939.1:p.Arg959Gln NC_000014.9:31139994:C:T p.(Arg959Gln) NC_000014.9:31139994:C:T p.(Arg959Gln) NC_000014.9:31139994:C:T Identity +NM_030931.4:c.284C>T NP_112193.1:p.Thr95Ile NC_000020.11:145639:C:T p.(Thr95Ile) NC_000020.11:145639:C:T p.(Thr95Ile) NC_000020.11:145639:C:T Identity +NM_001410924.1:c.171C>G NP_001397853.1:p.Asn57Lys NC_000001.11:196950963:C:G p.(Asn57Lys) NC_000001.11:196950963:C:G p.(Asn57Lys) NC_000001.11:196950963:C:G Identity +NM_000855.3:c.367T>C NP_000846.1:p.Tyr123His NC_000011.10:106978738:A:G p.(Tyr123His) NC_000011.10:106978738:A:G p.(Tyr123His) NC_000011.10:106978738:A:G Identity +NM_001139459.2:c.367A>C NP_001132931.1:p.Lys123Gln NC_000001.11:246591928:A:C p.(Lys123Gln) NC_000001.11:246591928:A:C p.(Lys123Gln) NC_000001.11:246591928:A:C Identity +NM_025216.3:c.1237G>A NP_079492.2:p.Val413Ile NC_000002.12:218893253:G:A p.(Val413Ile) NC_000002.12:218893253:G:A p.(Val413Ile) NC_000002.12:218893253:G:A Identity +NM_178857.6:c.1072G>A NP_849188.4:p.Val358Ile NC_000008.11:10613025:C:T p.(Val358Ile) NC_000008.11:10613025:C:T p.(Val358Ile) NC_000008.11:10613025:C:T Identity +NM_001010977.3:c.41G>A NP_001010977.1:p.Arg14Gln NC_000013.11:102694457:C:T p.(Arg14Gln) NC_000013.11:102694457:C:T p.(Arg14Gln) NC_000013.11:102694457:C:T Identity +NM_005373.3:c.730T>C NP_005364.1:p.Ser244Pro NC_000001.11:43340002:T:C p.(Ser244Pro) NC_000001.11:43340002:T:C p.(Ser244Pro) NC_000001.11:43340002:T:C Identity +NM_001004747.2:c.157G>A NP_001004747.2:p.Gly53Ser NC_000011.10:56252409:G:A p.(Gly53Ser) NC_000011.10:56252409:G:A p.(Gly53Ser) NC_000011.10:56252409:G:A Identity +NM_130767.3:c.343C>T NP_570123.1:p.Pro115Ser NC_000005.10:81363804:G:A p.(Pro115Ser) NC_000005.10:81363804:G:A p.(Pro115Ser) NC_000005.10:81363804:G:A Identity +NM_002814.4:c.547G>A NP_002805.1:p.Glu183Lys NC_000023.11:108085107:C:T p.(Glu183Lys) NC_000023.11:108085107:C:T p.(Glu183Lys) NC_000023.11:108085107:C:T Identity +NM_001265588.2:c.2086A>G NP_001252517.2:p.Arg696Gly NC_000016.10:31916430:A:G p.(Arg696Gly) NC_000016.10:31916430:A:G p.(Arg696Gly) NC_000016.10:31916430:A:G Identity +NM_001143688.3:c.749T>A NP_001137160.1:p.Val250Asp NC_000015.10:66314051:T:A p.(Val250Asp) NC_000015.10:66314051:T:A p.(Val250Asp) NC_000015.10:66314051:T:A Identity +NM_001008781.3:c.13334C>T NP_001008781.2:p.Thr4445Ile NC_000011.10:92890772:C:T p.(Thr4445Ile) NC_000011.10:92890772:C:T p.(Thr4445Ile) NC_000011.10:92890772:C:T Identity +NM_153690.5:c.1232A>G NP_710157.2:p.Gln411Arg NC_000003.12:194688057:A:G p.(Gln411Arg) NC_000003.12:194688057:A:G p.(Gln411Arg) NC_000003.12:194688057:A:G Identity +NM_000215.4:c.820G>A NP_000206.2:p.Ala274Thr NC_000019.10:17842356:C:T p.(Ala274Thr) NC_000019.10:17842356:C:T p.(Ala274Thr) NC_000019.10:17842356:C:T Identity +NM_032811.3:c.860T>C NP_116200.2:p.Leu287Pro NC_000011.10:124630767:T:C p.(Leu287Pro) NC_000011.10:124630767:T:C p.(Leu287Pro) NC_000011.10:124630767:T:C Identity +NM_012183.3:c.1111G>A NP_036315.1:p.Glu371Lys NC_000001.11:63324168:G:A p.(Glu371Lys) NC_000001.11:63324168:G:A p.(Glu371Lys) NC_000001.11:63324168:G:A Identity +NM_003195.6:c.857T>A NP_003186.1:p.Phe286Tyr NC_000020.11:64071906:T:A p.(Phe286Tyr) NC_000020.11:64071906:T:A p.(Phe286Tyr) NC_000020.11:64071906:T:A Identity +NM_018903.4:c.1677C>G NP_061726.1:p.Asn559Lys NC_000005.10:140877148:C:G p.(Asn559Lys) NC_000005.10:140877148:C:G p.(Asn559Lys) NC_000005.10:140877148:C:G Identity +NM_001169122.2:c.2824A>G NP_001162593.1:p.Lys942Glu NC_000023.11:148966804:A:G p.(Lys942Glu) NC_000023.11:148966804:A:G p.(Lys942Glu) NC_000023.11:148966804:A:G Identity +NM_001014342.3:c.6679G>A NP_001014364.1:p.Gly2227Arg NC_000001.11:152351106:C:T p.(Gly2227Arg) NC_000001.11:152351106:C:T p.(Gly2227Arg) NC_000001.11:152351106:C:T Identity +NM_001320466.2:c.620G>A NP_001307395.1:p.Ser207Asn NC_000003.12:113954157:G:A p.(Ser207Asn) NC_000003.12:113954157:G:A p.(Ser207Asn) NC_000003.12:113954157:G:A Identity +NM_153334.7:c.1817C>T NP_699165.3:p.Pro606Leu NC_000022.11:20426173:G:A p.(Pro606Leu) NC_000022.11:20426173:G:A p.(Pro606Leu) NC_000022.11:20426173:G:A Identity +NM_020987.5:c.4586C>G NP_066267.2:p.Ser1529Cys NC_000010.11:60076294:G:C p.(Ser1529Cys) NC_000010.11:60076294:G:C p.(Ser1529Cys) NC_000010.11:60076294:G:C Identity +NM_017780.4:c.2782A>G NP_060250.2:p.Lys928Glu NC_000008.11:60821873:A:G p.(Lys928Glu) NC_000008.11:60821873:A:G p.(Lys928Glu) NC_000008.11:60821873:A:G Identity +NM_139284.3:c.1570C>T NP_644813.1:p.Pro524Ser NC_000019.10:35125236:G:A p.(Pro524Ser) NC_000019.10:35125236:G:A p.(Pro524Ser) NC_000019.10:35125236:G:A Identity +NM_005779.3:c.121C>T NP_005770.1:p.Arg41Cys NC_000005.10:78510092:G:A p.(Arg41Cys) NC_000005.10:78510092:G:A p.(Arg41Cys) NC_000005.10:78510092:G:A Identity +NM_001330311.2:c.1103C>T NP_001317240.1:p.Ala368Val NC_000001.11:1339390:G:A p.(Ala368Val) NC_000001.11:1339390:G:A p.(Ala368Val) NC_000001.11:1339390:G:A Identity +NM_001267843.2:c.644T>G NP_001254772.1:p.Phe215Cys NC_000004.12:55459176:A:C p.(Phe215Cys) NC_000004.12:55459176:A:C p.(Phe215Cys) NC_000004.12:55459176:A:C Identity +NM_001145260.2:c.1016A>C NP_001138732.1:p.Glu339Ala NC_000010.11:46010952:T:G p.(Glu339Ala) NC_000010.11:46010952:T:G p.(Glu339Ala) NC_000010.11:46010952:T:G Identity +NM_003659.4:c.602T>C NP_003650.1:p.Met201Thr NC_000002.12:177437018:T:C p.(Met201Thr) NC_000002.12:177437018:T:C p.(Met201Thr) NC_000002.12:177437018:T:C Identity +NM_001164386.2:c.3979C>G NP_001157858.1:p.His1327Asp NC_000005.10:131433448:G:C p.(His1327Asp) NC_000005.10:131433448:G:C p.(His1327Asp) NC_000005.10:131433448:G:C Identity +NM_139175.2:c.358A>G NP_631914.1:p.Thr120Ala NC_000007.14:122698560:T:C p.(Thr120Ala) NC_000007.14:122698560:T:C p.(Thr120Ala) NC_000007.14:122698560:T:C Identity +NM_001267895.2:c.82G>A NP_001254824.1:p.Ala28Thr NC_000022.11:29206119:G:A p.(Ala28Thr) NC_000022.11:29206119:G:A p.(Ala28Thr) NC_000022.11:29206119:G:A Identity +NM_014431.3:c.1354C>T NP_055246.2:p.Arg452Cys NC_000010.11:70538309:C:T p.(Arg452Cys) NC_000010.11:70538309:C:T p.(Arg452Cys) NC_000010.11:70538309:C:T Identity +NM_001374299.1:c.263A>G NP_001361228.1:p.His88Arg NC_000009.12:92288138:T:C p.(His88Arg) NC_000009.12:92288138:T:C p.(His88Arg) NC_000009.12:92288138:T:C Identity +NM_001278231.2:c.540T>G NP_001265160.1:p.His180Gln NC_000009.12:101408349:T:G p.(His180Gln) NC_000009.12:101408349:T:G p.(His180Gln) NC_000009.12:101408349:T:G Identity +NM_001202523.3:c.1654C>T NP_001189452.2:p.Pro552Ser NC_000006.12:30896760:C:T p.(Pro552Ser) NC_000006.12:30896760:C:T p.(Pro552Ser) NC_000006.12:30896760:C:T Identity +NM_032119.4:c.16568A>T NP_115495.3:p.Asp5523Val NC_000005.10:90829142:A:T p.(Asp5523Val) NC_000005.10:90829142:A:T p.(Asp5523Val) NC_000005.10:90829142:A:T Identity +NM_001099432.3:c.890G>A NP_001092902.1:p.Gly297Asp NC_000017.11:60910598:G:A p.(Gly297Asp) NC_000017.11:60910598:G:A p.(Gly297Asp) NC_000017.11:60910598:G:A Identity +NM_002813.7:c.326C>T NP_002804.2:p.Ala109Val NC_000012.12:121899717:C:T p.(Ala109Val) NC_000012.12:121899717:C:T p.(Ala109Val) NC_000012.12:121899717:C:T Identity +NM_006125.3:c.544C>G NP_006116.2:p.Pro182Ala NC_000023.11:11664284:G:C p.(Pro182Ala) NC_000023.11:11664284:G:C p.(Pro182Ala) NC_000023.11:11664284:G:C Identity +NM_018652.5:c.1279G>A NP_061122.4:p.Glu427Lys NC_000015.10:72662682:G:A p.(Glu427Lys) NC_000015.10:72662682:G:A p.(Glu427Lys) NC_000015.10:72662682:G:A Identity +NM_001376909.1:c.13C>T NP_001363838.1:p.Pro5Ser NC_000011.10:60334907:C:T ERR:Data provider error: ValueError: Transcript NM_001376909.1 not found ERR:Data provider error: ValueError: Transcript NM_001376909.1 not found ERR:AlignmentMapper(tx_ac=NM_001376909.1, alt_ac=NM_001376909.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001376909.1, alt_ac=NM_001376909.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001376909.1 not found +NM_001172630.2:c.367G>A NP_001166101.1:p.Asp123Asn NC_000019.10:35780761:G:A p.(Asp123Asn) NC_000019.10:35780761:G:A p.(Asp123Asn) NC_000019.10:35780761:G:A Identity +NM_031415.3:c.500A>G NP_113603.1:p.Asn167Ser NC_000008.11:129765697:T:C p.(Asn167Ser) NC_000008.11:129765697:T:C p.(Asn167Ser) NC_000008.11:129765697:T:C Identity +NM_001384335.1:c.419C>T NP_001371264.1:p.Ala140Val NC_000007.14:27110221:G:A p.(Ala140Val) NC_000007.14:27110221:G:A p.(Ala140Val) NC_000007.14:27110221:G:A Identity +NM_004599.4:c.3236A>T NP_004590.2:p.Glu1079Val NC_000022.11:41905469:A:T p.(Glu1079Val) NC_000022.11:41905469:A:T p.(Glu1079Val) NC_000022.11:41905469:A:T Identity +NM_001048209.2:c.290A>C NP_001041674.1:p.Gln97Pro NC_000011.10:132146403:A:C p.(Gln97Pro) NC_000011.10:132146403:A:C p.(Gln97Pro) NC_000011.10:132146403:A:C Identity +NM_004886.4:c.1573C>T NP_004877.1:p.Arg525Cys NC_000019.10:3751271:G:A p.(Arg525Cys) NC_000019.10:3751271:G:A p.(Arg525Cys) NC_000019.10:3751271:G:A Identity +NM_001321525.2:c.1980A>C NP_001308454.1:p.Lys660Asn NC_000002.12:96023374:T:G p.(Lys660Asn) NC_000002.12:96023374:T:G p.(Lys660Asn) NC_000002.12:96023374:T:G Identity +NM_001042467.3:c.1525G>A NP_001035932.1:p.Glu509Lys NC_000002.12:237546674:G:A p.(Glu509Lys) NC_000002.12:237546674:G:A p.(Glu509Lys) NC_000002.12:237546674:G:A Identity +NM_014872.3:c.1549T>A NP_055687.1:p.Phe517Ile NC_000009.12:37441002:A:T p.(Phe517Ile) NC_000009.12:37441002:A:T p.(Phe517Ile) NC_000009.12:37441002:A:T Identity +NM_001395848.1:c.590T>C NP_001382777.1:p.Ile197Thr NC_000009.12:89001789:T:C p.(Ile197Thr) NC_000009.12:89001789:T:C p.(Ile197Thr) NC_000009.12:89001789:T:C Identity +NM_001201484.2:c.1764C>A NP_001188413.1:p.Phe588Leu NC_000009.12:35090119:G:T p.(Phe588Leu) NC_000009.12:35090119:G:T p.(Phe588Leu) NC_000009.12:35090119:G:T Identity +NM_001201334.2:c.728G>A NP_001188263.1:p.Arg243Lys NC_000002.12:75690072:C:T p.(Arg243Lys) NC_000002.12:75690072:C:T p.(Arg243Lys) NC_000002.12:75690072:C:T Identity +NM_002156.5:c.205G>A NP_002147.2:p.Gly69Arg NC_000002.12:197497361:C:T p.(Gly69Arg) NC_000002.12:197497361:C:T p.(Gly69Arg) NC_000002.12:197497361:C:T Identity +NM_207307.3:c.1688A>G NP_997190.1:p.Tyr563Cys NC_000003.12:129401623:T:C p.(Tyr563Cys) NC_000003.12:129401623:T:C p.(Tyr563Cys) NC_000003.12:129401623:T:C Identity +NM_004691.5:c.770G>A NP_004682.2:p.Arg257Gln NC_000016.10:67439016:C:T p.(Arg257Gln) NC_000016.10:67439016:C:T p.(Arg257Gln) NC_000016.10:67439016:C:T Identity +NM_001290259.2:c.3335C>T NP_001277188.1:p.Thr1112Ile NC_000006.12:63706763:C:T p.(Thr1112Ile) NC_000006.12:63706763:C:T p.(Thr1112Ile) NC_000006.12:63706763:C:T Identity +NM_000820.4:c.497G>A NP_000811.1:p.Gly166Asp NC_000013.11:113838160:C:T p.(Gly166Asp) NC_000013.11:113838160:C:T p.(Gly166Asp) NC_000013.11:113838160:C:T Identity +NM_207321.3:c.468G>T NP_997204.2:p.Met156Ile NC_000010.11:95207271:G:T p.(Met156Ile) NC_000010.11:95207271:G:T p.(Met156Ile) NC_000010.11:95207271:G:T Identity +NM_007344.4:c.485A>C NP_031370.2:p.Lys162Thr NC_000009.12:132402336:T:G p.(Lys162Thr) NC_000009.12:132402336:T:G p.(Lys162Thr) NC_000009.12:132402336:T:G Identity +NM_001249.5:c.878A>G NP_001240.1:p.Asn293Ser NC_000014.9:73973884:T:C p.(Asn293Ser) NC_000014.9:73973884:T:C p.(Asn293Ser) NC_000014.9:73973884:T:C Identity +NM_001012758.3:c.770T>C NP_001012776.1:p.Leu257Pro NC_000001.11:145848149:T:C p.(Leu257Pro) NC_000001.11:145848149:T:C p.(Leu257Pro) NC_000001.11:145848149:T:C Identity +NM_014949.4:c.1808G>A NP_055764.2:p.Arg603Gln NC_000001.11:155914157:C:T p.(Arg603Gln) NC_000001.11:155914157:C:T p.(Arg603Gln) NC_000001.11:155914157:C:T Identity +NM_001083588.2:c.211G>A NP_001077057.1:p.Asp71Asn NC_000008.11:85177630:G:A p.(Asp71Asn) NC_000008.11:85177630:G:A p.(Asp71Asn) NC_000008.11:85177630:G:A Identity +NM_013434.5:c.32C>T NP_038462.1:p.Ser11Leu NC_000002.12:95310370:C:T p.(Ser11Leu) NC_000002.12:95310370:C:T p.(Ser11Leu) NC_000002.12:95310370:C:T Identity +NM_003791.4:c.2264T>C NP_003782.1:p.Ile755Thr NC_000016.10:84066577:A:G p.(Ile755Thr) NC_000016.10:84066577:A:G p.(Ile755Thr) NC_000016.10:84066577:A:G Identity +NM_004884.4:c.2161T>G NP_004875.2:p.Phe721Val NC_000015.10:65329433:A:C p.(Phe721Val) NC_000015.10:65329433:A:C p.(Phe721Val) NC_000015.10:65329433:A:C Identity +NM_020196.3:c.1985A>T NP_064581.2:p.Glu662Val NC_000019.10:7620655:T:A p.(Glu662Val) NC_000019.10:7620655:T:A p.(Glu662Val) NC_000019.10:7620655:T:A Identity +NM_022070.5:c.790G>T NP_071353.4:p.Ala264Ser NC_000017.11:60070716:C:A p.(Ala264Ser) NC_000017.11:60070716:C:A p.(Ala264Ser) NC_000017.11:60070716:C:A Identity +NM_001143780.3:c.308G>A NP_001137252.1:p.Arg103His NC_000017.11:44322434:C:T p.(Arg103His) NC_000017.11:44322434:C:T p.(Arg103His) NC_000017.11:44322434:C:T Identity +NM_001290321.3:c.8066A>T NP_001277250.1:p.Asp2689Val NC_000005.10:119220523:A:T p.(Asp2689Val) NC_000005.10:119220523:A:T p.(Asp2689Val) NC_000005.10:119220523:A:T Identity +NM_005582.3:c.314C>T NP_005573.2:p.Thr105Ile NC_000005.10:67184528:G:A p.(Thr105Ile) NC_000005.10:67184528:G:A p.(Thr105Ile) NC_000005.10:67184528:G:A Identity +NM_001018037.2:c.4502C>T NP_001018047.1:p.Ala1501Val NC_000009.12:77315458:C:T p.(Ala1501Val) NC_000009.12:77315458:C:T p.(Ala1501Val) NC_000009.12:77315458:C:T Identity +NM_001349303.2:c.666G>C NP_001336232.1:p.Met222Ile NC_000005.10:95658637:C:G p.(Met222Ile) NC_000005.10:95658637:C:G p.(Met222Ile) NC_000005.10:95658637:C:G Identity +NM_032775.4:c.1012C>T NP_116164.2:p.Arg338Cys NC_000022.11:20464957:G:A p.(Arg338Cys) NC_000022.11:20464957:G:A p.(Arg338Cys) NC_000022.11:20464957:G:A Identity +NM_001100878.2:c.1114G>A NP_001094348.1:p.Ala372Thr NC_000008.11:143569994:C:T p.(Ala372Thr) NC_000008.11:143569994:C:T p.(Ala372Thr) NC_000008.11:143569994:C:T Identity +NM_017820.5:c.2303C>G NP_060290.3:p.Ala768Gly NC_000009.12:137307621:G:C p.(Ala768Gly) NC_000009.12:137307621:G:C p.(Ala768Gly) NC_000009.12:137307621:G:C Identity +NM_014243.3:c.1396C>G NP_055058.2:p.Pro466Ala NC_000004.12:72318660:G:C p.(Pro466Ala) NC_000004.12:72318660:G:C p.(Pro466Ala) NC_000004.12:72318660:G:C Identity +NM_080283.4:c.676T>G NP_525022.2:p.Phe226Val NC_000017.11:69043612:A:C p.(Phe226Val) NC_000017.11:69043612:A:C p.(Phe226Val) NC_000017.11:69043612:A:C Identity +NM_001291876.2:c.6029G>A NP_001278805.2:p.Arg2010His NC_000010.11:122210588:G:A p.(Arg2010His) NC_000010.11:122210588:G:A p.(Arg2010His) NC_000010.11:122210588:G:A Identity +NM_004342.7:c.202G>A NP_004333.1:p.Val68Met NC_000007.14:134928883:G:A p.(Val68Met) NC_000007.14:134928883:G:A p.(Val68Met) NC_000007.14:134928883:G:A Identity +NM_001048166.1:c.2134G>C NP_001041631.1:p.Asp712His NC_000001.11:47280323:C:G p.(Asp712His) NC_000001.11:47280323:C:G p.(Asp712His) NC_000001.11:47280323:C:G Identity +NM_001130698.2:c.1654A>C NP_001124170.1:p.Ile552Leu NC_000004.12:121910291:T:G p.(Ile552Leu) NC_000004.12:121910291:T:G p.(Ile552Leu) NC_000004.12:121910291:T:G Identity +NM_005680.3:c.293C>A NP_005671.3:p.Pro98Gln NC_000002.12:9851627:C:A p.(Pro98Gln) NC_000002.12:9851627:C:A p.(Pro98Gln) NC_000002.12:9851627:C:A Identity +NM_005018.3:c.344G>A NP_005009.2:p.Arg115His NC_000002.12:241852712:C:T p.(Arg115His) NC_000002.12:241852712:C:T p.(Arg115His) NC_000002.12:241852712:C:T Identity +NM_001136204.3:c.17C>T NP_001129676.1:p.Ala6Val NC_000001.11:17438497:G:A p.(Ala6Val) NC_000001.11:17438497:G:A p.(Ala6Val) NC_000001.11:17438497:G:A Identity +NM_001258459.2:c.163G>A NP_001245388.1:p.Gly55Ser NC_000007.14:56087696:C:T p.(Gly55Ser) NC_000007.14:56087696:C:T p.(Gly55Ser) NC_000007.14:56087696:C:T Identity +NM_017564.10:c.971A>C NP_060034.9:p.Asp324Ala NC_000012.12:103640186:A:C p.(Asp324Ala) NC_000012.12:103640186:A:C p.(Asp324Ala) NC_000012.12:103640186:A:C Identity +NM_005990.4:c.1081T>A NP_005981.3:p.Ser361Thr NC_000005.10:172093884:A:T p.(Ser361Thr) NC_000005.10:172093884:A:T p.(Ser361Thr) NC_000005.10:172093884:A:T Identity +NM_002081.3:c.1607A>G NP_002072.2:p.Gln536Arg NC_000002.12:240466219:A:G p.(Gln536Arg) NC_000002.12:240466219:A:G p.(Gln536Arg) NC_000002.12:240466219:A:G Identity +NM_001297609.2:c.2192G>A NP_001284538.1:p.Gly731Glu NC_000001.11:27359960:C:T p.(Gly731Glu) NC_000001.11:27359960:C:T p.(Gly731Glu) NC_000001.11:27359960:C:T Identity +NM_001145304.2:c.3457C>T NP_001138776.1:p.Arg1153Trp NC_000019.10:18257826:G:A p.(Arg1153Trp) NC_000019.10:18257826:G:A p.(Arg1153Trp) NC_000019.10:18257826:G:A Identity +NM_001329126.2:c.2375C>T NP_001316055.1:p.Thr792Ile NC_000003.12:132474999:C:T p.(Thr792Ile) NC_000003.12:132474999:C:T p.(Thr792Ile) NC_000003.12:132474999:C:T Identity +NM_001100391.3:c.470G>T NP_001093861.1:p.Gly157Val NC_000008.11:84862312:G:T p.(Gly157Val) NC_000008.11:84862312:G:T p.(Gly157Val) NC_000008.11:84862312:G:T Identity +NM_001143909.1:c.493A>T NP_001137381.1:p.Thr165Ser NC_000010.11:103246488:A:T p.(Thr165Ser) NC_000010.11:103246488:A:T p.(Thr165Ser) NC_000010.11:103246488:A:T Identity +NM_001323640.2:c.542G>A NP_001310569.1:p.Arg181His NC_000015.10:45402970:G:A p.(Arg181His) NC_000015.10:45402970:G:A p.(Arg181His) NC_000015.10:45402970:G:A Identity +NM_001308025.1:c.5401A>T NP_001294954.1:p.Ser1801Cys NC_000015.10:89625713:A:T p.(Ser1801Cys) NC_000015.10:89625713:A:T p.(Ser1801Cys) NC_000015.10:89625713:A:T Identity +NM_001199852.2:c.262C>G NP_001186781.1:p.Arg88Gly NC_000009.12:4719196:G:C p.(Arg88Gly) NC_000009.12:4719196:G:C p.(Arg88Gly) NC_000009.12:4719196:G:C Identity +NM_001161482.1:c.1571T>C NP_001154954.1:p.Met524Thr NC_000010.11:248972:T:C ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_199511.3:c.2582C>T NP_955805.1:p.Pro861Leu NC_000003.12:112605687:G:A p.(Pro861Leu) NC_000003.12:112605687:G:A p.(Pro861Leu) NC_000003.12:112605687:G:A Identity +NM_012142.5:c.686A>G NP_036274.3:p.Gln229Arg NC_000015.10:43191500:A:G p.(Gln229Arg) NC_000015.10:43191500:A:G p.(Gln229Arg) NC_000015.10:43191500:A:G Identity +NM_001085458.2:c.643C>T NP_001078927.1:p.Arg215Cys NC_000011.10:57796678:C:T p.(Arg215Cys) NC_000011.10:57796678:C:T p.(Arg215Cys) NC_000011.10:57796678:C:T Identity +NM_001286554.2:c.703G>C NP_001273483.1:p.Val235Leu NC_000006.12:41806280:C:G p.(Val235Leu) NC_000006.12:41806280:C:G p.(Val235Leu) NC_000006.12:41806280:C:G Identity +NM_014587.5:c.188G>C NP_055402.2:p.Arg63Pro NC_000016.10:982109:G:C p.(Arg63Pro) NC_000016.10:982109:G:C p.(Arg63Pro) NC_000016.10:982109:G:C Identity +NM_001004067.4:c.2266T>C NP_001004067.1:p.Trp756Arg NC_000016.10:16273899:T:C p.(Trp756Arg) NC_000016.10:16273899:T:C p.(Trp756Arg) NC_000016.10:16273899:T:C Identity +NM_001242925.2:c.892G>A NP_001229854.1:p.Val298Met NC_000001.11:205269327:G:A p.(Val298Met) NC_000001.11:205269327:G:A p.(Val298Met) NC_000001.11:205269327:G:A Identity +NM_001040424.3:c.541G>A NP_001035514.2:p.Ala181Thr NC_000021.9:41847188:C:T p.(Ala181Thr) NC_000021.9:41847188:C:T p.(Ala181Thr) NC_000021.9:41847188:C:T Identity +NM_001313915.2:c.607A>C NP_001300844.1:p.Ser203Arg NC_000002.12:88590547:T:G p.(Ser203Arg) NC_000002.12:88590547:T:G p.(Ser203Arg) NC_000002.12:88590547:T:G Identity +NM_001015887.3:c.4A>C NP_001015887.1:p.Thr2Pro NC_000003.12:119034578:T:G p.(Thr2Pro) NC_000003.12:119034578:T:G p.(Thr2Pro) NC_000003.12:119034578:T:G Identity +NM_017818.4:c.1105G>A NP_060288.3:p.Val369Met NC_000001.11:3631600:C:T p.(Val369Met) NC_000001.11:3631600:C:T p.(Val369Met) NC_000001.11:3631600:C:T Identity +NM_001348002.2:c.2333C>T NP_001334931.1:p.Ala778Val NC_000009.12:15745547:C:T p.(Ala778Val) NC_000009.12:15745547:C:T p.(Ala778Val) NC_000009.12:15745547:C:T Identity +NM_001329613.2:c.19G>A NP_001316542.1:p.Glu7Lys NC_000015.10:66497712:C:T p.(Glu7Lys) NC_000015.10:66497712:C:T p.(Glu7Lys) NC_000015.10:66497712:C:T Identity +NM_001012446.4:c.453C>A NP_001012448.2:p.Ser151Arg NC_000009.12:35825708:G:T p.(Ser151Arg) NC_000009.12:35825708:G:T p.(Ser151Arg) NC_000009.12:35825708:G:T Identity +NM_001256619.2:c.1261G>C NP_001243548.2:p.Asp421His NC_000010.11:98209374:G:C p.(Asp421His) NC_000010.11:98209374:G:C p.(Asp421His) NC_000010.11:98209374:G:C Identity +NM_001300769.2:c.149C>T NP_001287698.1:p.Thr50Ile NC_000001.11:219179203:C:T p.(Thr50Ile) NC_000001.11:219179203:C:T p.(Thr50Ile) NC_000001.11:219179203:C:T Identity +NM_021615.5:c.782C>G NP_067628.1:p.Pro261Arg NC_000016.10:75479046:G:C p.(Pro261Arg) NC_000016.10:75479046:G:C p.(Pro261Arg) NC_000016.10:75479046:G:C Identity +NM_005360.5:c.1138T>A NP_005351.2:p.Leu380Met NC_000016.10:79594533:A:T p.(Leu380Met) NC_000016.10:79594533:A:T p.(Leu380Met) NC_000016.10:79594533:A:T Identity +NM_001324255.2:c.6380A>G NP_001311184.1:p.Lys2127Arg NC_000005.10:72200112:A:G p.(Lys2127Arg) NC_000005.10:72200112:A:G p.(Lys2127Arg) NC_000005.10:72200112:A:G Identity +NM_014169.5:c.479A>C NP_054888.3:p.Glu160Ala NC_000014.9:24210478:T:G p.(Glu160Ala) NC_000014.9:24210478:T:G p.(Glu160Ala) NC_000014.9:24210478:T:G Identity +NM_020532.5:c.255C>G NP_065393.1:p.Phe85Leu NC_000002.12:55050045:G:C p.(Phe85Leu) NC_000002.12:55050045:G:C p.(Phe85Leu) NC_000002.12:55050045:G:C Identity +NM_001206612.2:c.529G>A NP_001193541.1:p.Gly177Arg NC_000001.11:153643348:G:A p.(Gly177Arg) NC_000001.11:153643348:G:A p.(Gly177Arg) NC_000001.11:153643348:G:A Identity +NM_001282959.2:c.412G>A NP_001269888.1:p.Val138Met NC_000010.11:68742507:G:A p.(Val138Met) NC_000010.11:68742507:G:A p.(Val138Met) NC_000010.11:68742507:G:A Identity +NM_001278425.3:c.2951C>G NP_001265354.2:p.Ala984Gly NC_000016.10:81147479:G:C p.(Ala984Gly) NW_025791800.1:195740:G:C p.(Ala984Gly) NC_000016.10:195740:A:C Identity +NM_001379071.1:c.29G>A NP_001366000.1:p.Ser10Asn NC_000006.12:138776148:G:A p.(Ser10Asn) NC_000006.12:138776148:G:A p.(Ser10Asn) NC_000006.12:138776148:G:A Identity +NM_001293640.2:c.2392C>T NP_001280569.1:p.Leu798Phe NC_000012.12:105146505:C:T p.(Leu798Phe) NC_000012.12:105146505:C:T p.(Leu798Phe) NC_000012.12:105146505:C:T Identity +NM_032211.7:c.1231A>G NP_115587.6:p.Asn411Asp NC_000010.11:98257678:T:C p.(Asn411Asp) NC_000010.11:98257678:T:C p.(Asn411Asp) NC_000010.11:98257678:T:C Identity +NM_001293204.1:c.1991T>C NP_001280133.1:p.Ile664Thr NC_000016.10:29844848:T:C p.(Ile664Thr) NC_000016.10:29844848:T:C p.(Ile664Thr) NC_000016.10:29844848:T:C Identity +NM_001389618.1:c.67T>C NP_001376547.1:p.Cys23Arg NC_000010.11:48108:A:G p.(Cys23Arg) NC_000010.11:48108:A:G p.(Cys23Arg) NC_000010.11:48108:A:G Identity +NM_153366.4:c.1177A>G NP_699197.3:p.Thr393Ala NC_000009.12:110513051:T:C p.(Thr393Ala) NC_000009.12:110513051:T:C p.(Thr393Ala) NC_000009.12:110513051:T:C Identity +NM_015001.3:c.5234C>T NP_055816.2:p.Ala1745Val NC_000001.11:15931473:C:T p.(Ala1745Val) NC_000001.11:15931473:C:T p.(Ala1745Val) NC_000001.11:15931473:C:T Identity +NM_001316361.3:c.851A>G NP_001303290.1:p.Asn284Ser NC_000020.11:53995922:T:C p.(Asn284Ser) NC_000020.11:53995922:T:C p.(Asn284Ser) NC_000020.11:53995922:T:C Identity +NM_001134870.2:c.1301C>G NP_001128342.1:p.Pro434Arg NC_000006.12:30684717:G:C p.(Pro434Arg) NC_000006.12:30684717:G:C p.(Pro434Arg) NC_000006.12:30684717:G:C Identity +NM_001306147.2:c.1284G>T NP_001293076.1:p.Lys428Asn NC_000004.12:77030949:G:T p.(Lys428Asn) NC_000004.12:77030949:G:T p.(Lys428Asn) NC_000004.12:77030949:G:T Identity +NM_001363349.1:c.3914C>T NP_001350278.1:p.Ala1305Val NC_000007.14:117728175:G:A p.(Ala1305Val) NC_000007.14:117728175:G:A p.(Ala1305Val) NC_000007.14:117728175:G:A Identity +NM_001414485.1:c.575C>T NP_001401414.1:p.Thr192Met NC_000012.12:120356975:G:A p.(Thr192Met) NC_000012.12:120356975:G:A p.(Thr192Met) NC_000012.12:120356975:G:A Identity +NM_001410908.1:c.4384C>G NP_001397837.1:p.Gln1462Glu NC_000007.14:105112265:C:G p.(Gln1462Glu) NC_000007.14:105112265:C:G p.(Gln1462Glu) NC_000007.14:105112265:C:G Identity +NM_001146698.2:c.2413G>C NP_001140170.1:p.Glu805Gln NC_000012.12:113918419:C:G p.(Glu805Gln) NC_000012.12:113918419:C:G p.(Glu805Gln) NC_000012.12:113918419:C:G Identity +NM_001318052.2:c.353G>T NP_001304981.1:p.Gly118Val NC_000007.14:140602044:C:A p.(Gly118Val) NC_000007.14:140602044:C:A p.(Gly118Val) NC_000007.14:140602044:C:A Identity +NM_001040025.3:c.437C>T NP_001035114.2:p.Thr146Ile NC_000017.11:81681792:G:A p.(Thr146Ile) NC_000017.11:81681792:G:A p.(Thr146Ile) NC_000017.11:81681792:G:A Identity +NM_001042589.3:c.1220T>A NP_001036054.1:p.Phe407Tyr NC_000009.12:35853640:T:A p.(Phe407Tyr) NC_000009.12:35853640:T:A p.(Phe407Tyr) NC_000009.12:35853640:T:A Identity +NM_021095.4:c.1618G>T NP_066918.2:p.Val540Leu NC_000002.12:27201379:C:A p.(Val540Leu) NC_000002.12:27201379:C:A p.(Val540Leu) NC_000002.12:27201379:C:A Identity +NM_001014972.3:c.4567G>A NP_001014972.1:p.Gly1523Ser NC_000002.12:71424691:G:A p.(Gly1523Ser) NC_000002.12:71424691:G:A p.(Gly1523Ser) NC_000002.12:71424691:G:A Identity +NM_152373.4:c.757A>C NP_689586.3:p.Thr253Pro NC_000001.11:40547079:A:C p.(Thr253Pro) NC_000001.11:40547079:A:C p.(Thr253Pro) NC_000001.11:40547079:A:C Identity +NM_001242487.2:c.4361G>A NP_001229416.1:p.Arg1454Gln NC_000010.11:73799200:G:A p.(Arg1454Gln) NC_000010.11:73799200:G:A p.(Arg1454Gln) NC_000010.11:73799200:G:A Identity +NM_001322793.2:c.884A>G NP_001309722.1:p.Glu295Gly NC_000010.11:92510062:T:C p.(Glu295Gly) NC_000010.11:92510062:T:C p.(Glu295Gly) NC_000010.11:92510062:T:C Identity +NM_001135920.4:c.3380C>G NP_001129392.2:p.Ala1127Gly NC_000009.12:5769211:C:G p.(Ala1127Gly) NC_000009.12:5769211:C:G p.(Ala1127Gly) NC_000009.12:5769211:C:G Identity +NM_007123.6:c.1213A>G NP_009054.6:p.Asn405Asp NC_000001.11:216324282:T:C p.(Asn405Asp) NC_000001.11:216324282:T:C p.(Asn405Asp) NC_000001.11:216324282:T:C Identity +NM_001278182.2:c.643G>A NP_001265111.1:p.Gly215Ser NC_000003.12:27721651:C:T p.(Gly215Ser) NC_000003.12:27721651:C:T p.(Gly215Ser) NC_000003.12:27721651:C:T Identity +NM_001185009.3:c.70A>C NP_001171938.1:p.Thr24Pro NC_000004.12:2497066:A:C p.(Thr24Pro) NC_000004.12:2497066:A:C p.(Thr24Pro) NC_000004.12:2497066:A:C Identity +NM_001040694.2:c.1154T>G NP_001035784.1:p.Val385Gly NC_000011.10:62138750:T:G p.(Val385Gly) NC_000011.10:62138750:T:G p.(Val385Gly) NC_000011.10:62138750:T:G Identity +NM_002521.3:c.257G>A NP_002512.1:p.Gly86Asp NC_000001.11:11858344:C:T p.(Gly86Asp) NC_000001.11:11858344:C:T p.(Gly86Asp) NC_000001.11:11858344:C:T Identity +NM_001195227.2:c.730G>C NP_001182156.1:p.Gly244Arg NC_000019.10:49168669:G:C p.(Gly244Arg) NC_000019.10:49168669:G:C p.(Gly244Arg) NC_000019.10:49168669:G:C Identity +NM_001013703.4:c.3148G>A NP_001013725.2:p.Asp1050Asn NC_000015.10:40001212:G:A p.(Asp1050Asn) NC_000015.10:40001212:G:A p.(Asp1050Asn) NC_000015.10:40001212:G:A Identity +NM_001308047.2:c.2573A>G NP_001294976.1:p.Asn858Ser NC_000009.12:76709700:T:C p.(Asn858Ser) NC_000009.12:76709700:T:C p.(Asn858Ser) NC_000009.12:76709700:T:C Identity +NM_001307943.2:c.1646C>T NP_001294872.1:p.Thr549Ile NC_000011.10:43405835:C:T p.(Thr549Ile) NC_000011.10:43405835:C:T p.(Thr549Ile) NC_000011.10:43405835:C:T Identity +NM_001293083.2:c.3554T>C NP_001280012.1:p.Met1185Thr NC_000002.12:96693989:T:C p.(Met1185Thr) NC_000002.12:96693989:T:C p.(Met1185Thr) NC_000002.12:96693989:T:C Identity +NM_001287813.3:c.1240A>G NP_001274742.1:p.Ile414Val NC_000008.11:50708933:A:G p.(Ile414Val) NC_000008.11:50708933:A:G p.(Ile414Val) NC_000008.11:50708933:A:G Identity +NM_080671.4:c.334G>T NP_542402.4:p.Ala112Ser NC_000002.12:223053163:G:T p.(Ala112Ser) NC_000002.12:223053163:G:T p.(Ala112Ser) NC_000002.12:223053163:G:T Identity +NM_001077260.1:c.37G>A NP_001070728.1:p.Glu13Lys NC_000009.12:37761967:G:A ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found +NM_004214.5:c.1024C>T NP_004205.2:p.Arg342Cys NC_000011.10:65884023:G:A p.(Arg342Cys) NC_000011.10:65884023:G:A p.(Arg342Cys) NC_000011.10:65884023:G:A Identity +NM_001304331.2:c.2342G>A NP_001291260.1:p.Arg781His NC_000001.11:203056884:G:A p.(Arg781His) NC_000001.11:203056884:G:A p.(Arg781His) NC_000001.11:203056884:G:A Identity +NM_001271985.2:c.174G>C NP_001258914.1:p.Gln58His NC_000011.10:125895369:C:G p.(Gln58His) NC_000011.10:125895369:C:G p.(Gln58His) NC_000011.10:125895369:C:G Identity +NM_001243718.2:c.233A>C NP_001230647.1:p.Asp78Ala NC_000011.10:73679670:T:G p.(Asp78Ala) NC_000011.10:73679670:T:G p.(Asp78Ala) NC_000011.10:73679670:T:G Identity +NM_001370153.1:c.3434C>A NP_001357082.1:p.Ala1145Glu NC_000010.11:48779976:C:A p.(Ala1145Glu) NC_000010.11:48779976:C:A p.(Ala1145Glu) NC_000010.11:48779976:C:A Identity +NM_006492.3:c.127C>T NP_006483.2:p.Pro43Ser NC_000001.11:110070485:G:A p.(Pro43Ser) NC_000001.11:110070485:G:A p.(Pro43Ser) NC_000001.11:110070485:G:A Identity +NM_031282.3:c.1493C>T NP_112572.1:p.Thr498Ile NC_000001.11:157575578:G:A p.(Thr498Ile) NC_000001.11:157575578:G:A p.(Thr498Ile) NC_000001.11:157575578:G:A Identity +NM_025163.4:c.1276C>G NP_079439.2:p.Leu426Val NC_000003.12:196947620:G:C p.(Leu426Val) NC_000003.12:196947620:G:C p.(Leu426Val) NC_000003.12:196947620:G:C Identity +NM_001110781.3:c.1093C>G NP_001104251.1:p.Leu365Val NC_000001.11:1665906:G:C p.(Leu365Val) NC_000001.11:1665906:G:C p.(Leu365Val) NC_000001.11:1665906:G:C Identity +NM_001017973.1:c.674G>A NP_001017973.1:p.Arg225His NC_000005.10:132210318:C:T ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found ERR:AlignmentMapper(tx_ac=NM_001017973.1, alt_ac=NM_001017973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001017973.1, alt_ac=NM_001017973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001017973.1 not found +NM_001195139.2:c.82A>G NP_001182068.2:p.Ile28Val NC_000016.10:70523449:T:C p.(Ile28Val) NC_000016.10:70523449:T:C p.(Ile28Val) NC_000016.10:70523449:T:C Identity +NM_004983.3:c.186G>C NP_004974.2:p.Leu62Phe NC_000001.11:160084215:G:C p.(Leu62Phe) NC_000001.11:160084215:G:C p.(Leu62Phe) NC_000001.11:160084215:G:C Identity +NM_001329595.1:c.73G>A NP_001316524.1:p.Ala25Thr NC_000017.11:41838004:G:A p.(Ala25Thr) NC_000017.11:41838004:G:A p.(Ala25Thr) NC_000017.11:41838004:G:A Identity +NM_001318323.3:c.275G>A NP_001305252.1:p.Ser92Asn NC_000022.11:42411582:C:T p.(Ser92Asn) NC_000022.11:42411582:C:T p.(Ser92Asn) NC_000022.11:42411582:C:T Identity +NM_001348247.2:c.317G>T NP_001335176.1:p.Arg106Ile NC_000001.11:159066093:C:A p.(Arg106Ile) NC_000001.11:159066093:C:A p.(Arg106Ile) NC_000001.11:159066093:C:A Identity +NM_001329126.2:c.730T>C NP_001316055.1:p.Ser244Pro NC_000003.12:132453489:T:C p.(Ser244Pro) NC_000003.12:132453489:T:C p.(Ser244Pro) NC_000003.12:132453489:T:C Identity +NM_173050.5:c.1363C>A NP_766638.2:p.Pro455Thr NC_000022.11:43222706:G:T p.(Pro455Thr) NC_000022.11:43222706:G:T p.(Pro455Thr) NC_000022.11:43222706:G:T Identity +NM_001276264.2:c.740A>G NP_001263193.1:p.His247Arg NC_000015.10:45120134:T:C p.(His247Arg) NC_000015.10:45120134:T:C p.(His247Arg) NC_000015.10:45120134:T:C Identity +NM_000297.4:c.503T>C NP_000288.1:p.Val168Ala NC_000004.12:88008235:T:C p.(Val168Ala) NC_000004.12:88008235:T:C p.(Val168Ala) NC_000004.12:88008235:T:C Identity +NM_001372073.1:c.1064A>C NP_001359002.1:p.Tyr355Ser NC_000008.11:17642736:A:C p.(Tyr355Ser) NC_000008.11:17642736:A:C p.(Tyr355Ser) NC_000008.11:17642736:A:C Identity +NM_033109.5:c.215T>C NP_149100.2:p.Val72Ala NC_000002.12:55687651:A:G p.(Val72Ala) NC_000002.12:55687651:A:G p.(Val72Ala) NC_000002.12:55687651:A:G Identity +NM_001258033.2:c.1129C>T NP_001244962.1:p.Leu377Phe NC_000016.10:22324502:C:T p.(Leu377Phe) NC_000016.10:22324502:C:T p.(Leu377Phe) NC_000016.10:22324502:C:T Identity +NM_000391.4:c.889C>G NP_000382.3:p.Arg297Gly NC_000011.10:6616500:G:C p.(Arg297Gly) NC_000011.10:6616500:G:C p.(Arg297Gly) NC_000011.10:6616500:G:C Identity +NM_001318781.2:c.4183G>C NP_001305710.1:p.Glu1395Gln NC_000003.12:64594346:C:G p.(Glu1395Gln) NC_000003.12:64594346:C:G p.(Glu1395Gln) NC_000003.12:64594346:C:G Identity +NM_020158.4:c.663C>G NP_064543.3:p.Phe221Leu NC_000019.10:41386677:G:C p.(Phe221Leu) NC_000019.10:41386677:G:C p.(Phe221Leu) NC_000019.10:41386677:G:C Identity +NM_002332.3:c.12232G>C NP_002323.2:p.Asp4078His NC_000012.12:57209168:G:C p.(Asp4078His) NC_000012.12:57209168:G:C p.(Asp4078His) NC_000012.12:57209168:G:C Identity +NM_017952.6:c.2014G>A NP_060422.4:p.Asp672Asn NC_000002.12:86137502:G:A p.(Asp672Asn) NC_000002.12:86137502:G:A p.(Asp672Asn) NC_000002.12:86137502:G:A Identity +NM_001160354.2:c.13G>C NP_001153826.1:p.Ala5Pro NC_000008.11:142700539:G:C p.(Ala5Pro) NC_000008.11:142700539:G:C p.(Ala5Pro) NC_000008.11:142700539:G:C Identity +NM_001113397.2:c.904G>A NP_001106868.1:p.Gly302Arg NC_000002.12:179444940:C:T p.(Gly302Arg) NC_000002.12:179444940:C:T p.(Gly302Arg) NC_000002.12:179444940:C:T Identity +NM_000173.7:c.172C>T NP_000164.5:p.Leu58Phe NC_000017.11:4932775:C:T p.(Leu58Phe) NC_000017.11:4932775:C:T p.(Leu58Phe) NC_000017.11:4932775:C:T Identity +NM_001303245.3:c.56G>C NP_001290174.1:p.Ser19Thr NC_000003.12:141487138:G:C p.(Ser19Thr) NC_000003.12:141487138:G:C p.(Ser19Thr) NC_000003.12:141487138:G:C Identity +NM_001098634.2:c.189G>C NP_001092104.1:p.Glu63Asp NC_000004.12:40438704:C:G p.(Glu63Asp) NC_000004.12:40438704:C:G p.(Glu63Asp) NC_000004.12:40438704:C:G Identity +NM_015187.5:c.62T>C NP_056002.2:p.Leu21Pro NC_000004.12:25862774:A:G p.(Leu21Pro) NC_000004.12:25862774:A:G p.(Leu21Pro) NC_000004.12:25862774:A:G Identity +NM_019849.3:c.68T>G NP_062823.1:p.Val23Gly NC_000019.10:33225635:A:C p.(Val23Gly) NC_000019.10:33225635:A:C p.(Val23Gly) NC_000019.10:33225635:A:C Identity +NM_018419.3:c.106G>C NP_060889.1:p.Ala36Pro NC_000020.11:64049410:C:G p.(Ala36Pro) NC_000020.11:64049410:C:G p.(Ala36Pro) NC_000020.11:64049410:C:G Identity +NM_000346.4:c.988A>G NP_000337.1:p.Ser330Gly NC_000017.11:72123844:A:G p.(Ser330Gly) NC_000017.11:72123844:A:G p.(Ser330Gly) NC_000017.11:72123844:A:G Identity +NM_003852.4:c.296C>G NP_003843.3:p.Ala99Gly NC_000007.14:138460843:C:G p.(Ala99Gly) NC_000007.14:138460843:C:G p.(Ala99Gly) NC_000007.14:138460843:C:G Identity +NM_001189.4:c.82G>C NP_001180.1:p.Ala28Pro NC_000004.12:13544332:C:G p.(Ala28Pro) NC_000004.12:13544332:C:G p.(Ala28Pro) NC_000004.12:13544332:C:G Identity +NM_000445.5:c.6728C>T NP_000436.2:p.Ala2243Val NC_000008.11:143923281:G:A p.(Ala2243Val) NC_000008.11:143923281:G:A p.(Ala2243Val) NC_000008.11:143923281:G:A Identity +NM_001385449.1:c.83T>C NP_001372378.1:p.Phe28Ser NC_000023.11:110450699:T:C p.(Phe28Ser) NC_000023.11:110450699:T:C p.(Phe28Ser) NC_000023.11:110450699:T:C Identity +NM_020950.2:c.1348G>T NP_066001.1:p.Val450Leu NC_000001.11:180935256:G:T p.(Val450Leu) NC_000001.11:180935256:G:T p.(Val450Leu) NC_000001.11:180935256:G:T Identity +NM_001113411.2:c.710G>A NP_001106882.1:p.Gly237Glu NC_000001.11:59512349:G:A p.(Gly237Glu) NC_000001.11:59512349:G:A p.(Gly237Glu) NC_000001.11:59512349:G:A Identity +NM_001002918.1:c.887A>G NP_001002918.1:p.Asp296Gly NC_000011.10:124319310:T:C p.(Asp296Gly) NC_000011.10:124319310:T:C p.(Asp296Gly) NC_000011.10:124319310:T:C Identity +NM_033017.4:c.818C>A NP_148977.2:p.Thr273Asn NC_000007.14:99903578:G:T p.(Thr273Asn) NC_000007.14:99903578:G:T p.(Thr273Asn) NC_000007.14:99903578:G:T Identity +NM_031461.6:c.107T>G NP_113649.1:p.Leu36Trp NC_000008.11:74986093:T:G p.(Leu36Trp) NC_000008.11:74986093:T:G p.(Leu36Trp) NC_000008.11:74986093:T:G Identity +NM_015906.4:c.169G>A NP_056990.3:p.Gly57Ser NC_000001.11:114510907:C:T p.(Gly57Ser) NC_000001.11:114510907:C:T p.(Gly57Ser) NC_000001.11:114510907:C:T Identity +NM_001115113.3:c.262T>G NP_001108585.2:p.Ser88Ala NC_000001.11:224433843:A:C p.(Ser88Ala) NC_000001.11:224433843:A:C p.(Ser88Ala) NC_000001.11:224433843:A:C Identity +NM_175907.6:c.154A>C NP_787103.1:p.Ser52Arg NC_000018.10:75208904:T:G p.(Ser52Arg) NC_000018.10:75208904:T:G p.(Ser52Arg) NC_000018.10:75208904:T:G Identity +NM_001001956.1:c.373G>T NP_001001956.1:p.Ala125Ser NC_000009.12:104617831:C:A p.(Ala125Ser) NC_000009.12:104617831:C:A p.(Ala125Ser) NC_000009.12:104617831:C:A Identity +NM_000346.4:c.1112C>A NP_000337.1:p.Ala371Glu NC_000017.11:72123968:C:A p.(Ala371Glu) NC_000017.11:72123968:C:A p.(Ala371Glu) NC_000017.11:72123968:C:A Identity +NM_007035.4:c.554G>A NP_008966.1:p.Arg185Lys NC_000012.12:91055727:C:T p.(Arg185Lys) NC_000012.12:91055727:C:T p.(Arg185Lys) NC_000012.12:91055727:C:T Identity +NM_001278451.2:c.1529C>A NP_001265380.1:p.Ala510Glu NC_000002.12:230285796:C:A p.(Ala510Glu) NC_000002.12:230285796:C:A p.(Ala510Glu) NC_000002.12:230285796:C:A Identity +NM_001164766.2:c.7480C>G NP_001158238.1:p.Pro2494Ala NC_000016.10:72788053:G:C p.(Pro2494Ala) NC_000016.10:72788053:G:C p.(Pro2494Ala) NC_000016.10:72788053:G:C Identity +NM_207336.3:c.1384A>G NP_997219.1:p.Thr462Ala NC_000007.14:149765117:T:C p.(Thr462Ala) NC_000007.14:149765117:T:C p.(Thr462Ala) NC_000007.14:149765117:T:C Identity +NM_018207.3:c.161G>C NP_060677.2:p.Arg54Pro NC_000001.11:33181271:C:G p.(Arg54Pro) NC_000001.11:33181271:C:G p.(Arg54Pro) NC_000001.11:33181271:C:G Identity +NM_001308022.2:c.3470G>A NP_001294951.1:p.Gly1157Asp NC_000002.12:217818510:C:T p.(Gly1157Asp) NC_000002.12:217818510:C:T p.(Gly1157Asp) NC_000002.12:217818510:C:T Identity +NM_001393376.1:c.931C>A NP_001380305.1:p.Arg311Ser NC_000003.12:74369203:G:T p.(Arg311Ser) NC_000003.12:74369203:G:T p.(Arg311Ser) NC_000003.12:74369203:G:T Identity +NM_017916.3:c.433A>T NP_060386.1:p.Ile145Phe NC_000019.10:49447874:T:A p.(Ile145Phe) NC_000019.10:49447874:T:A p.(Ile145Phe) NC_000019.10:49447874:T:A Identity +NM_001130107.2:c.1757G>T NP_001123579.1:p.Arg586Leu NC_000014.9:103687186:G:T p.(Arg586Leu) NC_000014.9:103687186:G:T p.(Arg586Leu) NC_000014.9:103687186:G:T Identity +NM_001346418.1:c.26C>A NP_001333347.1:p.Ala9Asp NC_000006.12:158999950:G:T p.(Ala9Asp) NC_000006.12:158999950:G:T p.(Ala9Asp) NC_000006.12:158999950:G:T Identity +NM_001098529.2:c.806T>C NP_001091999.1:p.Ile269Thr NC_000018.10:9887284:T:C p.(Ile269Thr) NC_000018.10:9887284:T:C p.(Ile269Thr) NC_000018.10:9887284:T:C Identity +NM_001130006.2:c.460C>A NP_001123478.2:p.Pro154Thr NC_000016.10:11896758:G:T p.(Pro154Thr) NC_000016.10:11896758:G:T p.(Pro154Thr) NC_000016.10:11896758:G:T Identity +NM_020546.3:c.1333G>T NP_065433.2:p.Asp445Tyr NC_000005.10:7707769:G:T p.(Asp445Tyr) NC_000005.10:7707769:G:T p.(Asp445Tyr) NC_000005.10:7707769:G:T Identity +NM_030647.2:c.472G>A NP_085150.1:p.Val158Ile NC_000007.14:140129579:C:T p.(Val158Ile) NC_000007.14:140129579:C:T p.(Val158Ile) NC_000007.14:140129579:C:T Identity +NM_001142393.2:c.373G>A NP_001135865.1:p.Gly125Ser NC_000006.12:11213366:C:T p.(Gly125Ser) NC_000006.12:11213366:C:T p.(Gly125Ser) NC_000006.12:11213366:C:T Identity +NM_001105539.3:c.77C>T NP_001099009.1:p.Ser26Phe NC_000008.11:80486886:C:T p.(Ser26Phe) NC_000008.11:80486886:C:T p.(Ser26Phe) NC_000008.11:80486886:C:T Identity +NM_001004747.2:c.713T>C NP_001004747.2:p.Leu238Pro NC_000011.10:56252965:T:C p.(Leu238Pro) NC_000011.10:56252965:T:C p.(Leu238Pro) NC_000011.10:56252965:T:C Identity +NM_001146225.2:c.725A>C NP_001139697.1:p.Asn242Thr NC_000012.12:52592468:T:G p.(Asn242Thr) NC_000012.12:52592468:T:G p.(Asn242Thr) NC_000012.12:52592468:T:G Identity +NM_001134222.2:c.827G>A NP_001127694.1:p.Gly276Asp NC_000005.10:2748880:C:T p.(Gly276Asp) NC_000005.10:2748880:C:T p.(Gly276Asp) NC_000005.10:2748880:C:T Identity +NM_001163678.2:c.839A>G NP_001157150.1:p.Asp280Gly NC_000003.12:158098147:T:C p.(Asp280Gly) NC_000003.12:158098147:T:C p.(Asp280Gly) NC_000003.12:158098147:T:C Identity +NM_198529.4:c.3339G>A NP_940931.3:p.Met1113Ile NC_000017.11:30080893:G:A p.(Met1113Ile) NC_000017.11:30080893:G:A p.(Met1113Ile) NC_000017.11:30080893:G:A Identity +NM_001317860.2:c.535G>T NP_001304789.1:p.Val179Leu NC_000015.10:41309785:C:A p.(Val179Leu) NC_000015.10:41309785:C:A p.(Val179Leu) NC_000015.10:41309785:C:A Identity +NM_001098270.2:c.1179A>C NP_001091740.1:p.Arg393Ser NC_000022.11:39488525:A:C p.(Arg393Ser) NC_000022.11:39488525:A:C p.(Arg393Ser) NC_000022.11:39488525:A:C Identity +NM_006160.4:c.670G>A NP_006151.3:p.Ala224Thr NC_000017.11:39605929:C:T p.(Ala224Thr) NC_000017.11:39605929:C:T p.(Ala224Thr) NC_000017.11:39605929:C:T Identity +NM_000445.5:c.12702T>G NP_000436.2:p.Asp4234Glu NC_000008.11:143917199:A:C p.(Asp4234Glu) NC_000008.11:143917199:A:C p.(Asp4234Glu) NC_000008.11:143917199:A:C Identity +NM_001145417.2:c.1075G>A NP_001138889.1:p.Ala359Thr NC_000003.12:136151583:C:T p.(Ala359Thr) NC_000003.12:136151583:C:T p.(Ala359Thr) NC_000003.12:136151583:C:T Identity +NM_004852.3:c.174G>T NP_004843.2:p.Glu58Asp NC_000018.10:57435889:G:T p.(Glu58Asp) NC_000018.10:57435889:G:T p.(Glu58Asp) NC_000018.10:57435889:G:T Identity +NM_001261464.2:c.1658C>T NP_001248393.1:p.Ala553Val NC_000001.11:155058061:C:T p.(Ala553Val) NC_000001.11:155058061:C:T p.(Ala553Val) NC_000001.11:155058061:C:T Identity +NM_001286149.2:c.364G>A NP_001273078.1:p.Ala122Thr NC_000001.11:220062899:C:T p.(Ala122Thr) NC_000001.11:220062899:C:T p.(Ala122Thr) NC_000001.11:220062899:C:T Identity +NM_021977.4:c.232T>C NP_068812.1:p.Ser78Pro NC_000006.12:160348650:T:C p.(Ser78Pro) NC_000006.12:160348650:T:C p.(Ser78Pro) NC_000006.12:160348650:T:C Identity +NM_005585.5:c.166G>A NP_005576.3:p.Gly56Ser NC_000015.10:66703423:G:A p.(Gly56Ser) NC_000015.10:66703423:G:A p.(Gly56Ser) NC_000015.10:66703423:G:A Identity +NM_080836.4:c.479C>T NP_543026.2:p.Pro160Leu NC_000020.11:2102951:C:T p.(Pro160Leu) NC_000020.11:2102951:C:T p.(Pro160Leu) NC_000020.11:2102951:C:T Identity +NM_001080461.3:c.1205T>C NP_001073930.1:p.Leu402Pro NC_000007.14:1236585:T:C p.(Leu402Pro) NC_000007.14:1236585:T:C p.(Leu402Pro) NC_000007.14:1236585:T:C Identity +NM_015688.2:c.838G>T NP_056503.1:p.Gly280Cys NC_000004.12:17708947:C:A p.(Gly280Cys) NC_000004.12:17708947:C:A p.(Gly280Cys) NC_000004.12:17708947:C:A Identity +NM_001163678.2:c.128G>A NP_001157150.1:p.Cys43Tyr NC_000003.12:158105896:C:T p.(Cys43Tyr) NC_000003.12:158105896:C:T p.(Cys43Tyr) NC_000003.12:158105896:C:T Identity +NM_018713.3:c.193A>C NP_061183.2:p.Thr65Pro NC_000001.11:219928247:T:G p.(Thr65Pro) NC_000001.11:219928247:T:G p.(Thr65Pro) NC_000001.11:219928247:T:G Identity +NM_001080461.3:c.646G>A NP_001073930.1:p.Gly216Ser NC_000007.14:1236026:G:A p.(Gly216Ser) NC_000007.14:1236026:G:A p.(Gly216Ser) NC_000007.14:1236026:G:A Identity +NM_001412905.1:c.1838A>G NP_001399834.1:p.His613Arg NC_000008.11:28555952:A:G p.(His613Arg) NC_000008.11:28555952:A:G p.(His613Arg) NC_000008.11:28555952:A:G Identity +NM_001003722.2:c.731G>T NP_001003722.1:p.Arg244Leu NC_000009.12:128523679:G:T p.(Arg244Leu) NC_000009.12:128523679:G:T p.(Arg244Leu) NC_000009.12:128523679:G:T Identity +NM_001363339.2:c.122A>T NP_001350268.1:p.Glu41Val NC_000007.14:38207625:A:T p.(Glu41Val) NC_000007.14:38207625:A:T p.(Glu41Val) NC_000007.14:38207625:A:T Identity +NM_001270528.2:c.692G>A NP_001257457.1:p.Arg231Lys NC_000015.10:59031513:G:A p.(Arg231Lys) NC_000015.10:59031513:G:A p.(Arg231Lys) NC_000015.10:59031513:G:A Identity +NM_001177381.2:c.961C>G NP_001170852.1:p.Leu321Val NC_000004.12:15003633:C:G p.(Leu321Val) NC_000004.12:15003633:C:G p.(Leu321Val) NC_000004.12:15003633:C:G Identity +NM_001286974.2:c.1052C>T NP_001273903.1:p.Thr351Ile NC_000009.12:108979329:G:A p.(Thr351Ile) NC_000009.12:108979329:G:A p.(Thr351Ile) NC_000009.12:108979329:G:A Identity +NM_001145666.2:c.1317C>G NP_001139138.1:p.His439Gln NC_000016.10:74491099:G:C p.(His439Gln) NC_000016.10:74491099:G:C p.(His439Gln) NC_000016.10:74491099:G:C Identity +NM_001411031.1:c.2063A>T NP_001397960.1:p.Glu688Val NC_000009.12:135821763:T:A p.(Glu688Val) NC_000009.12:135821763:T:A p.(Glu688Val) NC_000009.12:135821763:T:A Identity +NM_177998.3:c.1592C>T NP_819056.1:p.Pro531Leu NC_000004.12:4197241:G:A p.(Pro531Leu) NC_000004.12:4197241:G:A p.(Pro531Leu) NC_000004.12:4197241:G:A Identity +NM_001131007.2:c.974G>C NP_001124479.1:p.Arg325Thr NC_000004.12:153583585:G:C p.(Arg325Thr) NC_000004.12:153583585:G:C p.(Arg325Thr) NC_000004.12:153583585:G:C Identity +NM_178864.4:c.784G>A NP_849195.2:p.Ala262Thr NC_000011.10:66423207:G:A p.(Ala262Thr) NC_000011.10:66423207:G:A p.(Ala262Thr) NC_000011.10:66423207:G:A Identity +NM_001134830.2:c.624A>G NP_001128302.1:p.Ile208Met NC_000006.12:135465938:T:C p.(Ile208Met) NC_000006.12:135465938:T:C p.(Ile208Met) NC_000006.12:135465938:T:C Identity +NM_001321196.2:c.1303C>G NP_001308125.1:p.Leu435Val NC_000019.10:58499603:G:C p.(Leu435Val) NC_000019.10:58499603:G:C p.(Leu435Val) NC_000019.10:58499603:G:C Identity +NM_000552.5:c.7212C>G NP_000543.3:p.Ser2404Arg NC_000012.12:5981860:G:C p.(Ser2404Arg) NC_000012.12:5981860:G:C p.(Ser2404Arg) NC_000012.12:5981860:G:C Identity +NM_001101669.3:c.968G>T NP_001095139.1:p.Gly323Val NC_000004.12:142208528:C:A p.(Gly323Val) NC_000004.12:142208528:C:A p.(Gly323Val) NC_000004.12:142208528:C:A Identity +NM_001286426.2:c.1656A>T NP_001273355.1:p.Lys552Asn NC_000006.12:88612787:T:A p.(Lys552Asn) NC_000006.12:88612787:T:A p.(Lys552Asn) NC_000006.12:88612787:T:A Identity +NM_001243689.2:c.710G>T NP_001230618.1:p.Gly237Val NC_000012.12:51056153:G:T p.(Gly237Val) NC_000012.12:51056153:G:T p.(Gly237Val) NC_000012.12:51056153:G:T Identity +NM_001366910.1:c.1363G>A NP_001353839.1:p.Val455Ile NC_000019.10:42323708:G:A p.(Val455Ile) NC_000019.10:42323708:G:A p.(Val455Ile) NC_000019.10:42323708:G:A Identity +NM_001199692.3:c.1154T>C NP_001186621.1:p.Val385Ala NC_000007.14:151069952:T:C p.(Val385Ala) NC_000007.14:151069952:T:C p.(Val385Ala) NC_000007.14:151069952:T:C Identity +NM_001080855.3:c.694G>A NP_001074324.1:p.Val232Ile NC_000012.12:120222549:C:T p.(Val232Ile) NC_000012.12:120222549:C:T p.(Val232Ile) NC_000012.12:120222549:C:T Identity +NM_057088.3:c.1637T>C NP_476429.2:p.Met546Thr NC_000012.12:52790291:A:G p.(Met546Thr) NC_000012.12:52790291:A:G p.(Met546Thr) NC_000012.12:52790291:A:G Identity +NM_001198934.2:c.2147A>G NP_001185863.1:p.Gln716Arg NC_000006.12:43441880:A:G p.(Gln716Arg) NC_000006.12:43441880:A:G p.(Gln716Arg) NC_000006.12:43441880:A:G Identity +NM_003183.6:c.622C>T NP_003174.3:p.Leu208Phe NC_000002.12:9526241:G:A p.(Leu208Phe) NC_000002.12:9526241:G:A p.(Leu208Phe) NC_000002.12:9526241:G:A Identity +NM_001370076.1:c.1201A>G NP_001357005.1:p.Arg401Gly NC_000007.14:7573675:A:G p.(Arg401Gly) NC_000007.14:7573675:A:G p.(Arg401Gly) NC_000007.14:7573675:A:G Identity +NM_001324255.2:c.2623G>A NP_001311184.1:p.Glu875Lys NC_000005.10:72196355:G:A p.(Glu875Lys) NC_000005.10:72196355:G:A p.(Glu875Lys) NC_000005.10:72196355:G:A Identity +NM_001379228.1:c.11G>A NP_001366157.1:p.Gly4Glu NC_000021.9:32298981:G:A p.(Gly4Glu) NC_000021.9:32298981:G:A p.(Gly4Glu) NC_000021.9:32298981:G:A Identity +NM_001080435.3:c.1669A>G NP_001073904.1:p.Thr557Ala NC_000015.10:82830625:A:G p.(Thr557Ala) NC_000015.10:82830625:A:G p.(Thr557Ala) NC_000015.10:82830625:A:G Identity +NM_001287803.2:c.38G>A NP_001274732.1:p.Arg13His NC_000010.11:97451712:G:A p.(Arg13His) NC_000010.11:97451712:G:A p.(Arg13His) NC_000010.11:97451712:G:A Identity +NM_205859.2:c.498A>G NP_995581.1:p.Ile166Met NC_000009.12:111327935:T:C p.(Ile166Met) NC_000009.12:111327935:T:C p.(Ile166Met) NC_000009.12:111327935:T:C Identity +NM_001386014.1:c.986G>A NP_001372943.1:p.Arg329His NC_000017.11:41379066:C:T p.(Arg329His) NC_000017.11:41379066:C:T p.(Arg329His) NC_000017.11:41379066:C:T Identity +NM_001083113.2:c.902C>A NP_001076582.1:p.Thr301Asn NC_000020.11:63734734:C:A p.(Thr301Asn) NC_000020.11:63734734:C:A p.(Thr301Asn) NC_000020.11:63734734:C:A Identity +NM_001265597.3:c.1135G>T NP_001252526.1:p.Ala379Ser NC_000019.10:57641425:G:T p.(Ala379Ser) NC_000019.10:57641425:G:T p.(Ala379Ser) NC_000019.10:57641425:G:T Identity +NM_024337.4:c.218C>T NP_077313.3:p.Ala73Val NC_000005.10:3596322:C:T p.(Ala73Val) NC_000005.10:3596322:C:T p.(Ala73Val) NC_000005.10:3596322:C:T Identity +NM_001318245.2:c.1658C>G NP_001305174.1:p.Thr553Ser NC_000022.11:25770949:C:G p.(Thr553Ser) NC_000022.11:25770949:C:G p.(Thr553Ser) NC_000022.11:25770949:C:G Identity +NM_001145010.3:c.886C>G NP_001138482.1:p.Leu296Val NC_000012.12:27501974:C:G p.(Leu296Val) NC_000012.12:27501974:C:G p.(Leu296Val) NC_000012.12:27501974:C:G Identity +NM_001365116.2:c.2685C>A NP_001352045.1:p.Asn895Lys NC_000003.12:46997395:C:A p.(Asn895Lys) NC_000003.12:46997395:C:A p.(Asn895Lys) NC_000003.12:46997395:C:A Identity +NM_001199138.2:c.1271C>A NP_001186067.1:p.Thr424Asn NC_000002.12:32250592:G:T p.(Thr424Asn) NC_000002.12:32250592:G:T p.(Thr424Asn) NC_000002.12:32250592:G:T Identity +NM_001244580.2:c.5284C>T NP_001231509.1:p.Pro1762Ser NC_000007.14:98950232:C:T p.(Pro1762Ser) NC_000007.14:98950232:C:T p.(Pro1762Ser) NC_000007.14:98950232:C:T Identity +NM_001410864.1:c.1570G>C NP_001397793.1:p.Gly524Arg NC_000004.12:183261192:G:C p.(Gly524Arg) NC_000004.12:183261192:G:C p.(Gly524Arg) NC_000004.12:183261192:G:C Identity +NM_153366.4:c.6319G>C NP_699197.3:p.Val2107Leu NC_000009.12:110411391:C:G p.(Val2107Leu) NC_000009.12:110411391:C:G p.(Val2107Leu) NC_000009.12:110411391:C:G Identity +NM_001184771.2:c.508A>C NP_001171700.2:p.Thr170Pro NC_000023.11:88753921:A:C p.(Thr170Pro) NC_000023.11:88753921:A:C p.(Thr170Pro) NC_000023.11:88753921:A:C Identity +NM_001278233.2:c.55C>T NP_001265162.1:p.Arg19Trp NC_000003.12:8537326:C:T p.(Arg19Trp) NC_000003.12:8537326:C:T p.(Arg19Trp) NC_000003.12:8537326:C:T Identity +NM_001271602.2:c.1891G>A NP_001258531.1:p.Glu631Lys NC_000004.12:88680140:G:A p.(Glu631Lys) NC_000004.12:88680140:G:A p.(Glu631Lys) NC_000004.12:88680140:G:A Identity +NM_001297549.2:c.2896C>T NP_001284478.1:p.Pro966Ser NC_000019.10:18865293:C:T p.(Pro966Ser) NC_000019.10:18865293:C:T p.(Pro966Ser) NC_000019.10:18865293:C:T Identity +NM_001286563.3:c.794T>C NP_001273492.1:p.Val265Ala NC_000011.10:123605356:T:C p.(Val265Ala) NC_000011.10:123605356:T:C p.(Val265Ala) NC_000011.10:123605356:T:C Identity +NM_024012.4:c.730G>A NP_076917.1:p.Glu244Lys NC_000007.14:155071628:G:A p.(Glu244Lys) NC_000007.14:155071628:G:A p.(Glu244Lys) NC_000007.14:155071628:G:A Identity +NM_033448.3:c.173A>G NP_258259.1:p.Asn58Ser NC_000012.12:52552904:T:C p.(Asn58Ser) NC_000012.12:52552904:T:C p.(Asn58Ser) NC_000012.12:52552904:T:C Identity +NM_139075.4:c.1213A>G NP_620714.2:p.Arg405Gly NC_000011.10:69072983:A:G p.(Arg405Gly) NC_000011.10:69072983:A:G p.(Arg405Gly) NC_000011.10:69072983:A:G Identity +NM_013264.5:c.272C>G NP_037396.3:p.Ser91Cys NC_000011.10:125906169:C:G p.(Ser91Cys) NC_000011.10:125906169:C:G p.(Ser91Cys) NC_000011.10:125906169:C:G Identity +NM_001352169.2:c.535A>G NP_001339098.1:p.Met179Val NC_000012.12:104927992:T:C p.(Met179Val) NC_000012.12:104927992:T:C p.(Met179Val) NC_000012.12:104927992:T:C Identity +NM_003048.6:c.2191T>C NP_003039.2:p.Trp731Arg NC_000002.12:102708240:T:C p.(Trp731Arg) NC_000002.12:102708240:T:C p.(Trp731Arg) NC_000002.12:102708240:T:C Identity +NM_021048.5:c.335A>G NP_066386.3:p.Gln112Arg NC_000023.11:152135285:T:C p.(Gln112Arg) NC_000023.11:152135285:T:C p.(Gln112Arg) NC_000023.11:152135285:T:C Identity +NM_001130917.3:c.524G>C NP_001124389.2:p.Trp175Ser NC_000019.10:54574901:G:C p.(Trp175Ser) NC_000019.10:54574901:G:C p.(Trp175Ser) NC_000019.10:54574901:G:C Identity +NM_001024649.2:c.1355A>G NP_001019820.1:p.Asn452Ser NC_000005.10:179722975:A:G p.(Asn452Ser) NC_000005.10:179722975:A:G p.(Asn452Ser) NC_000005.10:179722975:A:G Identity +NM_001080975.2:c.269A>G NP_001074444.1:p.His90Arg NC_000023.11:16947129:A:G p.(His90Arg) NC_000023.11:16947129:A:G p.(His90Arg) NC_000023.11:16947129:A:G Identity +NM_001098796.2:c.1064C>T NP_001092266.1:p.Pro355Leu NC_000020.11:44065940:C:T p.(Pro355Leu) NC_000020.11:44065940:C:T p.(Pro355Leu) NC_000020.11:44065940:C:T Identity +NM_001194937.2:c.223G>A NP_001181866.1:p.Gly75Arg NC_000001.11:151440987:C:T p.(Gly75Arg) NC_000001.11:151440987:C:T p.(Gly75Arg) NC_000001.11:151440987:C:T Identity +NM_017514.5:c.3764G>T NP_059984.3:p.Arg1255Leu NC_000023.11:154467944:G:T p.(Arg1255Leu) NC_000023.11:154467944:G:T p.(Arg1255Leu) NC_000023.11:154467944:G:T Identity +NM_001308147.2:c.2216G>T NP_001295076.1:p.Arg739Leu NC_000014.9:64741732:G:T p.(Arg739Leu) NC_000014.9:64741732:G:T p.(Arg739Leu) NC_000014.9:64741732:G:T Identity +NM_003737.4:c.2966A>C NP_003728.1:p.Gln989Pro NC_000011.10:6632545:T:G p.(Gln989Pro) NC_000011.10:6632545:T:G p.(Gln989Pro) NC_000011.10:6632545:T:G Identity +NM_001115116.2:c.26G>A NP_001108588.1:p.Arg9Gln NC_000002.12:70978670:G:A p.(Arg9Gln) NC_000002.12:70978670:G:A p.(Arg9Gln) NC_000002.12:70978670:G:A Identity +NM_001024680.3:c.157C>T NP_001019851.1:p.Arg53Trp NC_000002.12:68464988:G:A p.(Arg53Trp) NC_000002.12:68464988:G:A p.(Arg53Trp) NC_000002.12:68464988:G:A Identity +NM_001406365.1:c.2760G>T NP_001393294.1:p.Glu920Asp NC_000010.11:68645488:G:T p.(Glu920Asp) NC_000010.11:68645488:G:T p.(Glu920Asp) NC_000010.11:68645488:G:T Identity +NM_001271314.2:c.455G>T NP_001258243.1:p.Gly152Val NC_000019.10:9414469:C:A p.(Gly152Val) NC_000019.10:9414469:C:A p.(Gly152Val) NC_000019.10:9414469:C:A Identity +NM_001242792.2:c.1505A>C NP_001229721.1:p.Glu502Ala NC_000006.12:83593668:T:G p.(Glu502Ala) NC_000006.12:83593668:T:G p.(Glu502Ala) NC_000006.12:83593668:T:G Identity +NM_001306173.2:c.815C>G NP_001293102.1:p.Thr272Arg NC_000005.10:35026464:G:C p.(Thr272Arg) NC_000005.10:35026464:G:C p.(Thr272Arg) NC_000005.10:35026464:G:C Identity +NM_001370.2:c.9819G>T NP_001361.1:p.Arg3273Ser NC_000002.12:84722650:G:T p.(Arg3273Ser) NC_000002.12:84722650:G:T p.(Arg3273Ser) NC_000002.12:84722650:G:T Identity +NM_001146197.3:c.4606G>C NP_001139669.1:p.Ala1536Pro NC_000013.11:102746090:C:G p.(Ala1536Pro) NC_000013.11:102746090:C:G p.(Ala1536Pro) NC_000013.11:102746090:C:G Identity +NM_001039705.3:c.2056G>A NP_001034794.1:p.Asp686Asn NC_000023.11:54928779:G:A p.(Asp686Asn) NC_000023.11:54928779:G:A p.(Asp686Asn) NC_000023.11:54928779:G:A Identity +NM_004000.3:c.58C>T NP_003991.2:p.Leu20Phe NC_000001.11:111229868:C:T p.(Leu20Phe) NC_000001.11:111229868:C:T p.(Leu20Phe) NC_000001.11:111229868:C:T Identity +NM_001105669.4:c.805C>A NP_001099139.2:p.Pro269Thr NC_000001.11:156582328:C:A p.(Pro269Thr) NC_000001.11:156582328:C:A p.(Pro269Thr) NC_000001.11:156582328:C:A Identity +NM_021245.4:c.389A>T NP_067068.1:p.Asp130Val NC_000010.11:73634596:T:A p.(Asp130Val) NC_000010.11:73634596:T:A p.(Asp130Val) NC_000010.11:73634596:T:A Identity +NM_001190809.2:c.298G>A NP_001177738.1:p.Glu100Lys NC_000020.11:38988857:G:A p.(Glu100Lys) NC_000020.11:38988857:G:A p.(Glu100Lys) NC_000020.11:38988857:G:A Identity +NM_173500.4:c.3545C>A NP_775771.3:p.Ser1182Tyr NC_000015.10:42745984:G:T p.(Ser1182Tyr) NC_000015.10:42745984:G:T p.(Ser1182Tyr) NC_000015.10:42745984:G:T Identity +NM_001308350.2:c.452C>A NP_001295279.1:p.Ser151Tyr NC_000003.12:113567646:C:A p.(Ser151Tyr) NC_000003.12:113567646:C:A p.(Ser151Tyr) NC_000003.12:113567646:C:A Identity +NM_005116.6:c.137G>A NP_005107.4:p.Ser46Asn NC_000020.11:4912949:C:T p.(Ser46Asn) NC_000020.11:4912949:C:T p.(Ser46Asn) NC_000020.11:4912949:C:T Identity +NM_005686.3:c.293G>T NP_005677.2:p.Ser98Ile NC_000001.11:204114393:G:T p.(Ser98Ile) NC_000001.11:204114393:G:T p.(Ser98Ile) NC_000001.11:204114393:G:T Identity +NM_000638.4:c.1050G>T NP_000629.3:p.Met350Ile NC_000017.11:28367988:C:A p.(Met350Ile) NC_000017.11:28367988:C:A p.(Met350Ile) NC_000017.11:28367988:C:A Identity +NM_001371097.1:c.4G>A NP_001358026.1:p.Asp2Asn NC_000012.12:20815741:G:A p.(Asp2Asn) NC_000012.12:20815741:G:A p.(Asp2Asn) NC_000012.12:20815741:G:A Identity +NM_001145357.2:c.2620C>G NP_001138829.1:p.Gln874Glu NC_000015.10:75392472:G:C p.(Gln874Glu) NC_000015.10:75392472:G:C p.(Gln874Glu) NC_000015.10:75392472:G:C Identity +NM_020765.3:c.10180G>A NP_065816.2:p.Ala3394Thr NC_000001.11:19120309:C:T p.(Ala3394Thr) NC_000001.11:19120309:C:T p.(Ala3394Thr) NC_000001.11:19120309:C:T Identity +NM_001318739.2:c.166T>C NP_001305668.1:p.Phe56Leu NC_000011.10:103066535:A:G p.(Phe56Leu) NC_000011.10:103066535:A:G p.(Phe56Leu) NC_000011.10:103066535:A:G Identity +NM_020846.2:c.1055C>T NP_065897.1:p.Pro352Leu NC_000004.12:48382759:C:T p.(Pro352Leu) NC_000004.12:48382759:C:T p.(Pro352Leu) NC_000004.12:48382759:C:T Identity +NM_024813.3:c.1747T>C NP_079089.2:p.Phe583Leu NC_000001.11:92380781:T:C p.(Phe583Leu) NC_000001.11:92380781:T:C p.(Phe583Leu) NC_000001.11:92380781:T:C Identity +NM_000441.2:c.215T>C NP_000432.1:p.Leu72Ser NC_000007.14:107663345:T:C p.(Leu72Ser) NC_000007.14:107663345:T:C p.(Leu72Ser) NC_000007.14:107663345:T:C Identity +NM_001367656.1:c.418A>C NP_001354585.1:p.Ile140Leu NC_000014.9:61996436:A:C p.(Ile140Leu) NC_000014.9:61996436:A:C p.(Ile140Leu) NC_000014.9:61996436:A:C Identity +NM_001110199.3:c.1135G>C NP_001103669.1:p.Ala379Pro NC_000007.14:76281566:G:C p.(Ala379Pro) NC_000007.14:76281566:G:C p.(Ala379Pro) NC_000007.14:76281566:G:C Identity +NM_000927.5:c.1799G>A NP_000918.2:p.Gly600Asp NC_000007.14:87545950:C:T p.(Gly600Asp) NC_000007.14:87545950:C:T p.(Gly600Asp) NC_000007.14:87545950:C:T Identity +NM_020361.5:c.1211A>G NP_065094.3:p.Tyr404Cys NC_000008.11:67422606:T:C p.(Tyr404Cys) NC_000008.11:67422606:T:C p.(Tyr404Cys) NC_000008.11:67422606:T:C Identity +NM_001282607.2:c.97C>A NP_001269536.1:p.Arg33Ser NC_000023.11:131081797:C:A p.(Arg33Ser) NC_000023.11:131081797:C:A p.(Arg33Ser) NC_000023.11:131081797:C:A Identity +NM_001201477.2:c.1482G>A NP_001188406.1:p.Met494Ile NC_000016.10:47083295:C:T p.(Met494Ile) NC_000016.10:47083295:C:T p.(Met494Ile) NC_000016.10:47083295:C:T Identity +NM_001144875.2:c.371C>T NP_001138347.1:p.Pro124Leu NC_000005.10:177508237:G:A p.(Pro124Leu) NC_000005.10:177508237:G:A p.(Pro124Leu) NC_000005.10:177508237:G:A Identity +NM_001204872.2:c.1226A>T NP_001191801.1:p.Asp409Val NC_000020.11:58714566:A:T p.(Asp409Val) NC_000020.11:58714566:A:T p.(Asp409Val) NC_000020.11:58714566:A:T Identity +NM_001308047.2:c.484G>C NP_001294976.1:p.Glu162Gln NC_000009.12:76846538:C:G p.(Glu162Gln) NC_000009.12:76846538:C:G p.(Glu162Gln) NC_000009.12:76846538:C:G Identity +NM_001042555.3:c.1162C>G NP_001036020.1:p.Pro388Ala NC_000012.12:69574589:C:G p.(Pro388Ala) NC_000012.12:69574589:C:G p.(Pro388Ala) NC_000012.12:69574589:C:G Identity +NM_001173514.2:c.263C>G NP_001166985.1:p.Ser88Trp NC_000019.10:35904614:G:C p.(Ser88Trp) NC_000019.10:35904614:G:C p.(Ser88Trp) NC_000019.10:35904614:G:C Identity +NM_000168.6:c.286C>A NP_000159.3:p.His96Asn NC_000007.14:42148306:G:T p.(His96Asn) NC_000007.14:42148306:G:T p.(His96Asn) NC_000007.14:42148306:G:T Identity +NM_001080479.3:c.3641A>G NP_001073948.2:p.Lys1214Arg NC_000005.10:73893270:A:G p.(Lys1214Arg) NC_000005.10:73893270:A:G p.(Lys1214Arg) NC_000005.10:73893270:A:G Identity +NM_001197122.2:c.1079G>A NP_001184051.1:p.Gly360Glu NC_000019.10:49660747:C:T p.(Gly360Glu) NC_000019.10:49660747:C:T p.(Gly360Glu) NC_000019.10:49660747:C:T Identity +NM_002293.4:c.4134C>G NP_002284.3:p.Asn1378Lys NC_000001.11:183136404:C:G p.(Asn1378Lys) NC_000001.11:183136404:C:G p.(Asn1378Lys) NC_000001.11:183136404:C:G Identity +NM_001164507.2:c.12193T>A NP_001157979.2:p.Leu4065Ile NC_000002.12:151609945:A:T p.(Leu4065Ile) NC_000002.12:151609945:A:T p.(Leu4065Ile) NC_000002.12:151609945:A:T Identity +NM_001160325.2:c.736G>A NP_001153797.1:p.Ala246Thr NC_000001.11:158562868:C:T p.(Ala246Thr) NC_000001.11:158562868:C:T p.(Ala246Thr) NC_000001.11:158562868:C:T Identity +NM_001143941.1:c.178C>G NP_001137413.1:p.Pro60Ala NC_000006.12:17291759:C:G p.(Pro60Ala) NC_000006.12:17291759:C:G p.(Pro60Ala) NC_000006.12:17291759:C:G Identity +NM_001145844.1:c.487A>C NP_001139316.1:p.Ile163Leu NC_000003.12:78746795:T:G ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_024329.6:c.598G>A NP_077305.2:p.Ala200Thr NC_000001.11:15428598:G:A p.(Ala200Thr) NC_000001.11:15428598:G:A p.(Ala200Thr) NC_000001.11:15428598:G:A Identity +NM_001005920.4:c.290T>C NP_001005920.3:p.Leu97Pro NC_000016.10:683716:A:G p.(Leu97Pro) NC_000016.10:683716:A:G p.(Leu97Pro) NC_000016.10:683716:A:G Identity +NM_001171183.2:c.308T>C NP_001164654.1:p.Met103Thr NC_000005.10:172200587:T:C p.(Met103Thr) NC_000005.10:172200587:T:C p.(Met103Thr) NC_000005.10:172200587:T:C Identity +NM_001002030.2:c.890G>A NP_001002030.1:p.Gly297Glu NC_000006.12:127289884:C:T p.(Gly297Glu) NC_000006.12:127289884:C:T p.(Gly297Glu) NC_000006.12:127289884:C:T Identity +NM_001280801.2:c.41C>T NP_001267730.1:p.Ala14Val NC_000005.10:180071661:G:A p.(Ala14Val) NC_000005.10:180071661:G:A p.(Ala14Val) NC_000005.10:180071661:G:A Identity +NM_001306129.2:c.4253A>G NP_001293058.2:p.Asn1418Ser NC_000002.12:215388300:T:C p.(Asn1418Ser) NC_000002.12:215388300:T:C p.(Asn1418Ser) NC_000002.12:215388300:T:C Identity +NM_001278595.2:c.446G>A NP_001265524.1:p.Arg149Lys NC_000007.14:100097844:C:T p.(Arg149Lys) NC_000007.14:100097844:C:T p.(Arg149Lys) NC_000007.14:100097844:C:T Identity +NM_001350162.2:c.5467G>A NP_001337091.1:p.Asp1823Asn NC_000008.11:30844699:C:T p.(Asp1823Asn) NC_000008.11:30844699:C:T p.(Asp1823Asn) NC_000008.11:30844699:C:T Identity +NM_001168235.2:c.1421G>A NP_001161707.1:p.Arg474Lys NC_000004.12:143699254:C:T p.(Arg474Lys) NC_000004.12:143699254:C:T p.(Arg474Lys) NC_000004.12:143699254:C:T Identity +NM_001278511.2:c.870G>A NP_001265440.1:p.Met290Ile NC_000015.10:82680560:C:T p.(Met290Ile) NC_000015.10:82680560:C:T p.(Met290Ile) NC_000015.10:82680560:C:T Identity +NM_014601.4:c.1019C>A NP_055416.2:p.Ala340Glu NC_000019.10:47736471:C:A p.(Ala340Glu) NC_000019.10:47736471:C:A p.(Ala340Glu) NC_000019.10:47736471:C:A Identity +NM_005468.3:c.2029T>C NP_005459.2:p.Tyr677His NC_000011.10:65045828:A:G p.(Tyr677His) NC_000011.10:65045828:A:G p.(Tyr677His) NC_000011.10:65045828:A:G Identity +NM_001080415.2:c.381T>A NP_001073884.1:p.Ser127Arg NC_000003.12:143016315:T:A p.(Ser127Arg) NC_000003.12:143016315:T:A p.(Ser127Arg) NC_000003.12:143016315:T:A Identity +NM_178354.3:c.136G>A NP_848131.1:p.Val46Ile NC_000001.11:152776506:G:A p.(Val46Ile) NC_000001.11:152776506:G:A p.(Val46Ile) NC_000001.11:152776506:G:A Identity +NM_004784.3:c.2206A>G NP_004775.1:p.Arg736Gly NC_000004.12:118240610:A:G p.(Arg736Gly) NC_000004.12:118240610:A:G p.(Arg736Gly) NC_000004.12:118240610:A:G Identity +NM_001005920.4:c.734G>A NP_001005920.3:p.Arg245His NC_000016.10:682854:C:T p.(Arg245His) NC_000016.10:682854:C:T p.(Arg245His) NC_000016.10:682854:C:T Identity +NM_002238.4:c.1193A>T NP_002229.1:p.Asp398Val NC_000001.11:210919827:T:A p.(Asp398Val) NC_000001.11:210919827:T:A p.(Asp398Val) NC_000001.11:210919827:T:A Identity +NM_001099282.2:c.11C>T NP_001092752.1:p.Thr4Ile NC_000010.11:43558068:G:A p.(Thr4Ile) NC_000010.11:43558068:G:A p.(Thr4Ile) NC_000010.11:43558068:G:A Identity +NM_022336.4:c.779C>T NP_071731.1:p.Ala260Val NC_000002.12:108910483:G:A p.(Ala260Val) NC_000002.12:108910483:G:A p.(Ala260Val) NC_000002.12:108910483:G:A Identity +NM_001367904.1:c.1383G>A NP_001354833.1:p.Met461Ile NC_000011.10:117518592:C:T p.(Met461Ile) NC_000011.10:117518592:C:T p.(Met461Ile) NC_000011.10:117518592:C:T Identity +NM_001145138.2:c.710C>T NP_001138610.1:p.Ser237Leu NC_000011.10:65658444:G:A p.(Ser237Leu) NC_000011.10:65658444:G:A p.(Ser237Leu) NC_000011.10:65658444:G:A Identity +NM_004281.4:c.425C>T NP_004272.2:p.Pro142Leu NC_000010.11:119670094:C:T p.(Pro142Leu) NC_000010.11:119670094:C:T p.(Pro142Leu) NC_000010.11:119670094:C:T Identity +NM_194449.4:c.4853T>C NP_919431.2:p.Ile1618Thr NC_000018.10:62979129:T:C p.(Ile1618Thr) NC_000018.10:62979129:T:C p.(Ile1618Thr) NC_000018.10:62979129:T:C Identity +NM_001347990.2:c.1370C>A NP_001334919.1:p.Ala457Asp NC_000009.12:70143784:C:A p.(Ala457Asp) NC_000009.12:70143784:C:A p.(Ala457Asp) NC_000009.12:70143784:C:A Identity +NM_001185039.2:c.1724A>G NP_001171968.1:p.Gln575Arg NC_000017.11:75948347:T:C p.(Gln575Arg) NC_000017.11:75948347:T:C p.(Gln575Arg) NC_000017.11:75948347:T:C Identity +NM_001128303.2:c.172C>A NP_001121775.1:p.Gln58Lys NC_000013.11:43881156:C:A p.(Gln58Lys) NC_000013.11:43881156:C:A p.(Gln58Lys) NC_000013.11:43881156:C:A Identity +NM_001318810.2:c.2536G>C NP_001305739.1:p.Val846Leu NC_000003.12:165188294:C:G p.(Val846Leu) NC_000003.12:165188294:C:G p.(Val846Leu) NC_000003.12:165188294:C:G Identity +NM_001319051.2:c.785G>A NP_001305980.1:p.Gly262Asp NC_000003.12:16200696:G:A p.(Gly262Asp) NC_000003.12:16200696:G:A p.(Gly262Asp) NC_000003.12:16200696:G:A Identity +NM_017617.5:c.2576C>G NP_060087.3:p.Thr859Arg NC_000009.12:136511162:G:C p.(Thr859Arg) NC_000009.12:136511162:G:C p.(Thr859Arg) NC_000009.12:136511162:G:C Identity +NM_001388404.1:c.709C>T NP_001375333.1:p.Leu237Phe NC_000001.11:226736749:G:A p.(Leu237Phe) NC_000001.11:226736749:G:A p.(Leu237Phe) NC_000001.11:226736749:G:A Identity +NM_001008744.2:c.276T>G NP_001008744.1:p.Ser92Arg NC_000014.9:89963389:T:G p.(Ser92Arg) NC_000014.9:89963389:T:G p.(Ser92Arg) NC_000014.9:89963389:T:G Identity +NM_001289067.2:c.1909G>A NP_001275996.1:p.Asp637Asn NC_000010.11:94592231:G:A p.(Asp637Asn) NC_000010.11:94592231:G:A p.(Asp637Asn) NC_000010.11:94592231:G:A Identity +NM_032840.3:c.1148A>G NP_116229.1:p.Glu383Gly NC_000012.12:53066359:T:C p.(Glu383Gly) NC_000012.12:53066359:T:C p.(Glu383Gly) NC_000012.12:53066359:T:C Identity +NM_172364.5:c.1202T>C NP_758952.4:p.Met401Thr NC_000012.12:1884837:A:G p.(Met401Thr) NC_000012.12:1884837:A:G p.(Met401Thr) NC_000012.12:1884837:A:G Identity +NM_003737.4:c.7737G>T NP_003728.1:p.Gln2579His NC_000011.10:6623938:C:A p.(Gln2579His) NC_000011.10:6623938:C:A p.(Gln2579His) NC_000011.10:6623938:C:A Identity +NM_007372.3:c.656A>G NP_031398.2:p.Asn219Ser NC_000017.11:63805104:A:G p.(Asn219Ser) NC_000017.11:63805104:A:G p.(Asn219Ser) NC_000017.11:63805104:A:G Identity +NM_001258372.2:c.1186A>G NP_001245301.1:p.Lys396Glu NC_000017.11:50550767:A:G p.(Lys396Glu) NC_000017.11:50550767:A:G p.(Lys396Glu) NC_000017.11:50550767:A:G Identity +NM_001164271.2:c.1868A>T NP_001157743.1:p.Asp623Val NC_000008.11:13094883:T:A p.(Asp623Val) NC_000008.11:13094883:T:A p.(Asp623Val) NC_000008.11:13094883:T:A Identity +NM_001257328.2:c.340C>A NP_001244257.1:p.His114Asn NC_000017.11:4716590:C:A p.(His114Asn) NC_000017.11:4716590:C:A p.(His114Asn) NC_000017.11:4716590:C:A Identity +NM_021724.5:c.817C>G NP_068370.1:p.Leu273Val NC_000017.11:40095874:G:C p.(Leu273Val) NC_000017.11:40095874:G:C p.(Leu273Val) NC_000017.11:40095874:G:C Identity +NM_001270546.1:c.1630T>C NP_001257475.1:p.Trp544Arg NC_000015.10:85717320:T:C p.(Trp544Arg) NC_000015.10:85717320:T:C p.(Trp544Arg) NC_000015.10:85717320:T:C Identity +NM_001040273.3:c.924C>A NP_001035363.1:p.Asp308Glu NC_000010.11:70145662:G:T p.(Asp308Glu) NC_000010.11:70145662:G:T p.(Asp308Glu) NC_000010.11:70145662:G:T Identity +NM_015657.4:c.493A>C NP_056472.2:p.Ile165Leu NC_000002.12:215019636:T:G p.(Ile165Leu) NC_000002.12:215019636:T:G p.(Ile165Leu) NC_000002.12:215019636:T:G Identity +NM_001009555.4:c.1487G>A NP_001009555.3:p.Gly496Asp NC_000004.12:151139812:C:T p.(Gly496Asp) NC_000004.12:151139812:C:T p.(Gly496Asp) NC_000004.12:151139812:C:T Identity +NM_001144823.2:c.2491C>G NP_001138295.1:p.Arg831Gly NC_000015.10:65701829:G:C p.(Arg831Gly) NC_000015.10:65701829:G:C p.(Arg831Gly) NC_000015.10:65701829:G:C Identity +NM_001307928.2:c.1126G>A NP_001294857.1:p.Gly376Ser NC_000018.10:63566858:G:A p.(Gly376Ser) NC_000018.10:63566858:G:A p.(Gly376Ser) NC_000018.10:63566858:G:A Identity +NM_001173466.2:c.1165C>G NP_001166937.1:p.Gln389Glu NC_000012.12:53308118:G:C p.(Gln389Glu) NC_000012.12:53308118:G:C p.(Gln389Glu) NC_000012.12:53308118:G:C Identity +NM_001243877.2:c.77A>G NP_001230806.1:p.Asn26Ser NC_000017.11:50863940:T:C p.(Asn26Ser) NC_000017.11:50863940:T:C p.(Asn26Ser) NC_000017.11:50863940:T:C Identity +NM_001105077.4:c.1240G>A NP_001098547.3:p.Ala414Thr NC_000003.12:169116262:C:T p.(Ala414Thr) NC_000003.12:169116262:C:T p.(Ala414Thr) NC_000003.12:169116262:C:T Identity +NM_001317902.2:c.664A>G NP_001304831.1:p.Ser222Gly NC_000008.11:55786840:A:G p.(Ser222Gly) NC_000008.11:55786840:A:G p.(Ser222Gly) NC_000008.11:55786840:A:G Identity +NM_144573.4:c.104T>C NP_653174.3:p.Phe35Ser NC_000001.11:77917641:T:C p.(Phe35Ser) NC_000001.11:77917641:T:C p.(Phe35Ser) NC_000001.11:77917641:T:C Identity +NM_001184.4:c.4934C>A NP_001175.2:p.Ser1645Tyr NC_000003.12:142508027:G:T p.(Ser1645Tyr) NC_000003.12:142508027:G:T p.(Ser1645Tyr) NC_000003.12:142508027:G:T Identity +NM_001277225.2:c.398G>A NP_001264154.1:p.Gly133Asp NC_000004.12:22747403:G:A p.(Gly133Asp) NW_025791774.1:69196:G:A p.(Gly133Asp) NC_000004.12:69196:A:A Identity +NM_020884.7:c.511C>A NP_065935.4:p.Gln171Lys NC_000020.11:34981043:C:A p.(Gln171Lys) NC_000020.11:34981043:C:A p.(Gln171Lys) NC_000020.11:34981043:C:A Identity +NM_001737.5:c.568C>G NP_001728.1:p.Leu190Val NC_000005.10:39331722:G:C p.(Leu190Val) NC_000005.10:39331722:G:C p.(Leu190Val) NC_000005.10:39331722:G:C Identity +NM_014757.5:c.2768C>T NP_055572.1:p.Ala923Val NC_000005.10:179774593:C:T p.(Ala923Val) NC_000005.10:179774593:C:T p.(Ala923Val) NC_000005.10:179774593:C:T Identity +NM_001193434.2:c.1090G>A NP_001180363.1:p.Ala364Thr NC_000010.11:113780769:G:A p.(Ala364Thr) NC_000010.11:113780769:G:A p.(Ala364Thr) NC_000010.11:113780769:G:A Identity +NM_001330159.3:c.763G>T NP_001317088.1:p.Val255Leu NC_000017.11:21190982:G:T p.(Val255Leu) NC_000017.11:21190982:G:T p.(Val255Leu) NC_000017.11:21190982:G:T Identity +NM_001301212.2:c.862C>G NP_001288141.1:p.Leu288Val NC_000015.10:50634526:G:C p.(Leu288Val) NC_000015.10:50634526:G:C p.(Leu288Val) NC_000015.10:50634526:G:C Identity +NM_032119.4:c.17174C>A NP_115495.3:p.Thr5725Asn NC_000005.10:90848790:C:A p.(Thr5725Asn) NC_000005.10:90848790:C:A p.(Thr5725Asn) NC_000005.10:90848790:C:A Identity +NM_000168.6:c.2005A>C NP_000159.3:p.Thr669Pro NC_000007.14:41972434:T:G p.(Thr669Pro) NC_000007.14:41972434:T:G p.(Thr669Pro) NC_000007.14:41972434:T:G Identity +NM_014830.3:c.1535T>C NP_055645.1:p.Val512Ala NC_000012.12:57003382:A:G p.(Val512Ala) NC_000012.12:57003382:A:G p.(Val512Ala) NC_000012.12:57003382:A:G Identity +NM_001005211.2:c.884A>G NP_001005211.1:p.Lys295Arg NC_000011.10:58118560:T:C p.(Lys295Arg) NC_000011.10:58118560:T:C p.(Lys295Arg) NC_000011.10:58118560:T:C Identity +NM_000921.5:c.569C>T NP_000912.3:p.Ala190Val NC_000012.12:20369852:C:T p.(Ala190Val) NC_000012.12:20369852:C:T p.(Ala190Val) NC_000012.12:20369852:C:T Identity +NM_001384714.1:c.337G>A NP_001371643.1:p.Ala113Thr NC_000008.11:11849154:C:T p.(Ala113Thr) NC_000008.11:11849154:C:T p.(Ala113Thr) NC_000008.11:11849154:C:T Identity +NM_001199868.2:c.515A>G NP_001186797.1:p.His172Arg NC_000010.11:130166542:A:G p.(His172Arg) NC_000010.11:130166542:A:G p.(His172Arg) NC_000010.11:130166542:A:G Identity +NM_001318360.2:c.616G>A NP_001305289.1:p.Val206Ile NC_000009.12:108916203:C:T p.(Val206Ile) NC_000009.12:108916203:C:T p.(Val206Ile) NC_000009.12:108916203:C:T Identity +NM_012072.4:c.1135G>A NP_036204.2:p.Gly379Arg NC_000020.11:23085057:C:T p.(Gly379Arg) NC_000020.11:23085057:C:T p.(Gly379Arg) NC_000020.11:23085057:C:T Identity +NM_001007466.3:c.1367C>T NP_001007467.1:p.Pro456Leu NC_000006.12:158481169:C:T p.(Pro456Leu) NC_000006.12:158481169:C:T p.(Pro456Leu) NC_000006.12:158481169:C:T Identity +NM_001137674.3:c.833G>C NP_001131146.2:p.Arg278Thr NC_000003.12:31989911:G:C p.(Arg278Thr) NC_000003.12:31989911:G:C p.(Arg278Thr) NC_000003.12:31989911:G:C Identity +NM_001265612.2:c.2891C>T NP_001252541.1:p.Pro964Leu NC_000016.10:58553845:G:A p.(Pro964Leu) NC_000016.10:58553845:G:A p.(Pro964Leu) NC_000016.10:58553845:G:A Identity +NM_001720.5:c.700G>C NP_001711.2:p.Gly234Arg NC_000001.11:39764790:C:G p.(Gly234Arg) NC_000001.11:39764790:C:G p.(Gly234Arg) NC_000001.11:39764790:C:G Identity +NM_001146116.2:c.4373T>A NP_001139588.1:p.Leu1458Gln NC_000021.9:46566604:T:A p.(Leu1458Gln) NC_000021.9:46566604:T:A p.(Leu1458Gln) NC_000021.9:46566604:T:A Identity +NM_001318716.2:c.1279G>A NP_001305645.1:p.Gly427Arg NC_000011.10:47573354:C:T p.(Gly427Arg) NC_000011.10:47573354:C:T p.(Gly427Arg) NC_000011.10:47573354:C:T Identity +NM_013386.5:c.1390G>T NP_037518.3:p.Val464Phe NC_000001.11:108136696:C:A p.(Val464Phe) NC_000001.11:108136696:C:A p.(Val464Phe) NC_000001.11:108136696:C:A Identity +NM_198690.3:c.97G>A NP_941963.2:p.Ala33Thr NC_000021.9:44627267:G:A p.(Ala33Thr) NC_000021.9:44627267:G:A p.(Ala33Thr) NC_000021.9:44627267:G:A Identity +NM_001008949.3:c.206G>C NP_001008949.1:p.Arg69Thr NC_000002.12:96326836:G:C p.(Arg69Thr) NC_000002.12:96326836:G:C p.(Arg69Thr) NC_000002.12:96326836:G:C Identity +NM_014810.5:c.2674A>G NP_055625.4:p.Arg892Gly NC_000001.11:180020447:A:G p.(Arg892Gly) NC_000001.11:180020447:A:G p.(Arg892Gly) NC_000001.11:180020447:A:G Identity +NM_017525.3:c.1888G>C NP_059995.2:p.Gly630Arg NC_000011.10:64835411:C:G p.(Gly630Arg) NC_000011.10:64835411:C:G p.(Gly630Arg) NC_000011.10:64835411:C:G Identity +NM_207336.3:c.632G>A NP_997219.1:p.Arg211His NC_000007.14:149765869:C:T p.(Arg211His) NC_000007.14:149765869:C:T p.(Arg211His) NC_000007.14:149765869:C:T Identity +NM_172347.3:c.1219G>C NP_758857.1:p.Ala407Pro NC_000016.10:84222557:C:G p.(Ala407Pro) NC_000016.10:84222557:C:G p.(Ala407Pro) NC_000016.10:84222557:C:G Identity +NM_001015002.2:c.319G>A NP_001015002.1:p.Gly107Arg NC_000017.11:75558574:G:A p.(Gly107Arg) NC_000017.11:75558574:G:A p.(Gly107Arg) NC_000017.11:75558574:G:A Identity +NM_001320435.2:c.322G>A NP_001307364.1:p.Ala108Thr NC_000017.11:7356042:G:A p.(Ala108Thr) NC_000017.11:7356042:G:A p.(Ala108Thr) NC_000017.11:7356042:G:A Identity +NM_001284239.1:c.236C>T NP_001271168.1:p.Thr79Ile NC_000008.11:30066866:G:A p.(Thr79Ile) NC_000008.11:30066866:G:A p.(Thr79Ile) NC_000008.11:30066866:G:A Identity +NM_182632.3:c.1273G>A NP_872438.2:p.Val425Ile NC_000005.10:1243695:G:A p.(Val425Ile) NC_000005.10:1243695:G:A p.(Val425Ile) NC_000005.10:1243695:G:A Identity +NM_001318360.2:c.2179dup NP_001305289.1:p.Thr727fs NC_000009.12:108897018:T:TT p.(Thr727AsnfsTer28) NC_000009.12:108897018:T:TT p.(Thr727AsnfsTer28) ERR:SPDI Analogous +NM_152513.4:c.2851G>A NP_689726.3:p.Val951Met NC_000022.11:41781318:G:A p.(Val951Met) NC_000022.11:41781318:G:A p.(Val951Met) NC_000022.11:41781318:G:A Identity +NM_001375323.1:c.650G>A NP_001362252.1:p.Arg217His NC_000006.12:144748290:G:A p.(Arg217His) NC_000006.12:144748290:G:A p.(Arg217His) NC_000006.12:144748290:G:A Identity +NM_001320458.2:c.650G>T NP_001307387.1:p.Gly217Val NC_000017.11:46876293:G:T p.(Gly217Val) NC_000017.11:46876293:G:T p.(Gly217Val) NC_000017.11:46876293:G:T Identity +NM_198565.3:c.737G>C NP_940967.1:p.Gly246Ala NC_000003.12:196660379:G:C p.(Gly246Ala) NC_000003.12:196660379:G:C p.(Gly246Ala) NC_000003.12:196660379:G:C Identity +NM_001283018.2:c.734G>A NP_001269947.1:p.Cys245Tyr NC_000020.11:23379879:C:T p.(Cys245Tyr) NC_000020.11:23379879:C:T p.(Cys245Tyr) NC_000020.11:23379879:C:T Identity +NM_001080517.3:c.3625G>C NP_001073986.1:p.Asp1209His NC_000003.12:9474575:G:C p.(Asp1209His) NC_000003.12:9474575:G:C p.(Asp1209His) NC_000003.12:9474575:G:C Identity +NM_001127350.2:c.323T>C NP_001120822.1:p.Ile108Thr NC_000001.11:28334665:T:C p.(Ile108Thr) NC_000001.11:28334665:T:C p.(Ile108Thr) NC_000001.11:28334665:T:C Identity +NM_001199692.3:c.931C>G NP_001186621.1:p.Arg311Gly NC_000007.14:151066957:C:G p.(Arg311Gly) NC_000007.14:151066957:C:G p.(Arg311Gly) NC_000007.14:151066957:C:G Identity +NM_003594.4:c.2839C>G NP_003585.3:p.Leu947Val NC_000001.11:117092763:C:G p.(Leu947Val) NC_000001.11:117092763:C:G p.(Leu947Val) NC_000001.11:117092763:C:G Identity +NM_080832.3:c.5G>A NP_543022.1:p.Gly2Glu NC_000023.11:91435581:G:A p.(Gly2Glu) NC_000023.11:91435581:G:A p.(Gly2Glu) NC_000023.11:91435581:G:A Identity +NM_001178074.2:c.2237C>T NP_001171545.1:p.Thr746Met NC_000012.12:66392378:G:A p.(Thr746Met) NC_000012.12:66392378:G:A p.(Thr746Met) NC_000012.12:66392378:G:A Identity +NM_001281932.2:c.1982T>C NP_001268861.1:p.Val661Ala NC_000007.14:158662200:A:G p.(Val661Ala) NC_000007.14:158662200:A:G p.(Val661Ala) NC_000007.14:158662200:A:G Identity +NM_001257190.3:c.1885A>G NP_001244119.1:p.Thr629Ala NC_000007.14:72942672:A:G p.(Thr629Ala) NC_000007.14:72942672:A:G p.(Thr629Ala) NC_000007.14:72942672:A:G Identity +NM_002458.3:c.1223C>T NP_002449.2:p.Thr408Ile NC_000011.10:1230006:C:T p.(Thr408Ile) NC_000011.10:1230006:C:T p.(Thr408Ile) NC_000011.10:1230006:C:T Identity +NM_001369395.1:c.2686T>C NP_001356324.1:p.Ser896Pro NC_000007.14:122011731:T:C p.(Ser896Pro) NC_000007.14:122011731:T:C p.(Ser896Pro) NC_000007.14:122011731:T:C Identity +NM_001318359.2:c.2657A>C NP_001305288.1:p.Lys886Thr NC_000004.12:40121007:A:C p.(Lys886Thr) NC_000004.12:40121007:A:C p.(Lys886Thr) NC_000004.12:40121007:A:C Identity +NM_001318520.2:c.933G>A NP_001305449.1:p.Met311Ile NC_000018.10:70114458:C:T p.(Met311Ile) NC_000018.10:70114458:C:T p.(Met311Ile) NC_000018.10:70114458:C:T Identity +NM_145658.4:c.599C>A NP_663633.1:p.Pro200His NC_000015.10:68946132:C:A p.(Pro200His) NC_000015.10:68946132:C:A p.(Pro200His) NC_000015.10:68946132:C:A Identity +NM_018672.5:c.1946C>T NP_061142.2:p.Ser649Phe NC_000017.11:69287707:G:A p.(Ser649Phe) NC_000017.11:69287707:G:A p.(Ser649Phe) NC_000017.11:69287707:G:A Identity +NM_001242680.2:c.1012C>T NP_001229609.1:p.His338Tyr NC_000019.10:22314428:C:T p.(His338Tyr) NC_000019.10:22314428:C:T p.(His338Tyr) NC_000019.10:22314428:C:T Identity +NM_032880.5:c.1307T>C NP_116269.3:p.Ile436Thr NC_000001.11:18377404:T:C p.(Ile436Thr) NC_000001.11:18377404:T:C p.(Ile436Thr) NC_000001.11:18377404:T:C Identity +NM_014981.3:c.32C>G NP_055796.2:p.Ala11Gly NC_000003.12:108510498:G:C p.(Ala11Gly) NC_000003.12:108510498:G:C p.(Ala11Gly) NC_000003.12:108510498:G:C Identity +NM_001252226.2:c.815A>G NP_001239155.1:p.Lys272Arg NC_000005.10:58457331:T:C p.(Lys272Arg) NC_000005.10:58457331:T:C p.(Lys272Arg) NC_000005.10:58457331:T:C Identity +NM_022897.5:c.2046T>A NP_075048.1:p.Asp682Glu NC_000005.10:171199676:T:A p.(Asp682Glu) NC_000005.10:171199676:T:A p.(Asp682Glu) NC_000005.10:171199676:T:A Identity +NM_001301007.2:c.2282C>T NP_001287936.1:p.Thr761Ile NC_000011.10:94866111:C:T p.(Thr761Ile) NC_000011.10:94866111:C:T p.(Thr761Ile) NC_000011.10:94866111:C:T Identity +NM_001040441.3:c.631A>C NP_001035531.2:p.Lys211Gln NC_000001.11:32593561:A:C p.(Lys211Gln) NC_000001.11:32593561:A:C p.(Lys211Gln) NC_000001.11:32593561:A:C Identity +NM_001253387.2:c.648G>C NP_001240316.1:p.Gln216His NC_000003.12:342050:G:C p.(Gln216His) NC_000003.12:342050:G:C p.(Gln216His) NC_000003.12:342050:G:C Identity +NM_018376.4:c.676A>G NP_060846.2:p.Ser226Gly NC_000009.12:104773004:A:G p.(Ser226Gly) NC_000009.12:104773004:A:G p.(Ser226Gly) NC_000009.12:104773004:A:G Identity +NM_003381.4:c.60C>G NP_003372.1:p.Phe20Leu NC_000006.12:152752236:C:G p.(Phe20Leu) NC_000006.12:152752236:C:G p.(Phe20Leu) NC_000006.12:152752236:C:G Identity +NM_001039966.2:c.868G>A NP_001035055.1:p.Gly290Arg NC_000007.14:1092595:G:A p.(Gly290Arg) NC_000007.14:1092595:G:A p.(Gly290Arg) NC_000007.14:1092595:G:A Identity +NM_003167.4:c.529A>G NP_003158.2:p.Lys177Glu NC_000019.10:47879073:T:C p.(Lys177Glu) NC_000019.10:47879073:T:C p.(Lys177Glu) NC_000019.10:47879073:T:C Identity +NM_001284220.2:c.1056G>C NP_001271149.1:p.Arg352Ser NC_000008.11:28160242:G:C p.(Arg352Ser) NC_000008.11:28160242:G:C p.(Arg352Ser) NC_000008.11:28160242:G:C Identity +NM_001272011.2:c.810A>T NP_001258940.1:p.Arg270Ser NC_000014.9:102231787:T:A p.(Arg270Ser) NC_000014.9:102231787:T:A p.(Arg270Ser) NC_000014.9:102231787:T:A Identity +NM_001287532.2:c.925T>C NP_001274461.1:p.Tyr309His NC_000007.14:65399134:T:C p.(Tyr309His) NC_000007.14:65399134:T:C p.(Tyr309His) NC_000007.14:65399134:T:C Identity +NM_152701.5:c.12554T>A NP_689914.3:p.Leu4185Gln NC_000007.14:48427859:T:A p.(Leu4185Gln) NC_000007.14:48427859:T:A p.(Leu4185Gln) NC_000007.14:48427859:T:A Identity +NM_001297772.2:c.39G>C NP_001284701.1:p.Trp13Cys NC_000001.11:167901782:C:G p.(Trp13Cys) NC_000001.11:167901782:C:G p.(Trp13Cys) NC_000001.11:167901782:C:G Identity +NM_000423.3:c.1089C>G NP_000414.2:p.Ser363Arg NC_000012.12:52648205:G:C p.(Ser363Arg) NC_000012.12:52648205:G:C p.(Ser363Arg) NC_000012.12:52648205:G:C Identity +NM_173611.4:c.691G>A NP_775882.2:p.Val231Met NC_000015.10:38474259:G:A p.(Val231Met) NC_000015.10:38474259:G:A p.(Val231Met) NC_000015.10:38474259:G:A Identity +NM_001286734.2:c.4037A>C NP_001273663.1:p.His1346Pro NC_000004.12:103147377:T:G p.(His1346Pro) NC_000004.12:103147377:T:G p.(His1346Pro) NC_000004.12:103147377:T:G Identity +NM_003126.4:c.1292A>G NP_003117.2:p.Glu431Gly NC_000001.11:158674386:T:C p.(Glu431Gly) NC_000001.11:158674386:T:C p.(Glu431Gly) NC_000001.11:158674386:T:C Identity +NM_001010986.3:c.3200T>G NP_001010986.2:p.Val1067Gly NC_000023.11:139738012:A:C p.(Val1067Gly) NC_000023.11:139738012:A:C p.(Val1067Gly) NC_000023.11:139738012:A:C Identity +NM_152367.3:c.755A>G NP_689580.2:p.Asp252Gly NC_000001.11:116128238:A:G p.(Asp252Gly) NC_000001.11:116128238:A:G p.(Asp252Gly) NC_000001.11:116128238:A:G Identity +NM_001385400.1:c.1263T>A NP_001372329.1:p.Asp421Glu NC_000014.9:24166122:T:A p.(Asp421Glu) NC_000014.9:24166122:T:A p.(Asp421Glu) NC_000014.9:24166122:T:A Identity +NM_001122835.3:c.2245A>T NP_001116307.2:p.Met749Leu NC_000001.11:230908772:T:A p.(Met749Leu) NC_000001.11:230908772:T:A p.(Met749Leu) NC_000001.11:230908772:T:A Identity +NM_001277742.2:c.1022G>A NP_001264671.1:p.Arg341His NC_000002.12:72132518:C:T p.(Arg341His) NC_000002.12:72132518:C:T p.(Arg341His) NC_000002.12:72132518:C:T Identity +NM_003141.4:c.479T>C NP_003132.2:p.Ile160Thr NC_000011.10:4389678:A:G p.(Ile160Thr) NC_000011.10:4389678:A:G p.(Ile160Thr) NC_000011.10:4389678:A:G Identity +NM_000821.7:c.1907C>G NP_000812.2:p.Pro636Arg NC_000002.12:85550731:G:C p.(Pro636Arg) NC_000002.12:85550731:G:C p.(Pro636Arg) NC_000002.12:85550731:G:C Identity +NM_031891.4:c.2098G>A NP_114097.2:p.Asp700Asn NC_000018.10:61554386:G:A p.(Asp700Asn) NC_000018.10:61554386:G:A p.(Asp700Asn) NC_000018.10:61554386:G:A Identity +NM_001265589.2:c.952A>G NP_001252518.1:p.Thr318Ala NC_000011.10:63719453:A:G p.(Thr318Ala) NC_000011.10:63719453:A:G p.(Thr318Ala) NC_000011.10:63719453:A:G Identity +NM_001317783.2:c.584C>T NP_001304712.1:p.Pro195Leu NC_000008.11:143614351:G:A p.(Pro195Leu) NC_000008.11:143614351:G:A p.(Pro195Leu) NC_000008.11:143614351:G:A Identity +NM_001280541.2:c.2759T>C NP_001267470.1:p.Ile920Thr NC_000003.12:129506540:T:C p.(Ile920Thr) NC_000003.12:129506540:T:C p.(Ile920Thr) NC_000003.12:129506540:T:C Identity +NM_031288.4:c.736G>A NP_112578.2:p.Ala246Thr NC_000002.12:74457528:G:A p.(Ala246Thr) NC_000002.12:74457528:G:A p.(Ala246Thr) NC_000002.12:74457528:G:A Identity +NM_014585.6:c.440G>A NP_055400.1:p.Ser147Asn NC_000002.12:189571788:C:T p.(Ser147Asn) NC_000002.12:189571788:C:T p.(Ser147Asn) NC_000002.12:189571788:C:T Identity +NM_015551.2:c.460C>T NP_056366.1:p.Arg154Cys NC_000003.12:33175023:G:A p.(Arg154Cys) NC_000003.12:33175023:G:A p.(Arg154Cys) NC_000003.12:33175023:G:A Identity +NM_001424.6:c.367A>G NP_001415.1:p.Ile123Val NC_000016.10:10533041:T:C p.(Ile123Val) NC_000016.10:10533041:T:C p.(Ile123Val) NC_000016.10:10533041:T:C Identity +NM_014362.4:c.744T>A NP_055177.2:p.His248Gln NC_000002.12:190249645:A:T p.(His248Gln) NC_000002.12:190249645:A:T p.(His248Gln) NC_000002.12:190249645:A:T Identity +NM_001394905.1:c.472C>T NP_001381834.1:p.His158Tyr NC_000002.12:32947795:C:T p.(His158Tyr) NC_000002.12:32947795:C:T p.(His158Tyr) NC_000002.12:32947795:C:T Identity +NM_173573.3:c.1156G>T NP_775844.2:p.Asp386Tyr NC_000011.10:556292:C:A p.(Asp386Tyr) NC_000011.10:556292:C:A p.(Asp386Tyr) NC_000011.10:556292:C:A Identity +NM_020312.4:c.116C>T NP_064708.1:p.Ala39Val NC_000016.10:57451081:C:T p.(Ala39Val) NC_000016.10:57451081:C:T p.(Ala39Val) NC_000016.10:57451081:C:T Identity +NM_004533.4:c.76C>T NP_004524.3:p.Pro26Ser NC_000019.10:50435216:C:T p.(Pro26Ser) NC_000019.10:50435216:C:T p.(Pro26Ser) NC_000019.10:50435216:C:T Identity +NM_000692.5:c.307C>T NP_000683.3:p.Arg103Trp NC_000009.12:38396054:C:T p.(Arg103Trp) NC_000009.12:38396054:C:T p.(Arg103Trp) NC_000009.12:38396054:C:T Identity +NM_004334.3:c.697C>T NP_004325.2:p.Pro233Ser NC_000004.12:15715791:C:T p.(Pro233Ser) NC_000004.12:15715791:C:T p.(Pro233Ser) NC_000004.12:15715791:C:T Identity +NM_001258304.3:c.613C>T NP_001245233.1:p.Pro205Ser NC_000002.12:131530769:C:T p.(Pro205Ser) NC_000002.12:131530769:C:T p.(Pro205Ser) NC_000002.12:131530769:C:T Identity +NM_001287813.3:c.799A>G NP_001274742.1:p.Thr267Ala NC_000008.11:50553167:A:G p.(Thr267Ala) NC_000008.11:50553167:A:G p.(Thr267Ala) NC_000008.11:50553167:A:G Identity +NM_001042475.3:c.1115G>A NP_001035940.1:p.Arg372Lys NC_000006.12:118523825:C:T p.(Arg372Lys) NC_000006.12:118523825:C:T p.(Arg372Lys) NC_000006.12:118523825:C:T Identity +NM_001080440.1:c.836G>A NP_001073909.1:p.Arg279His NC_000003.12:161503343:G:A p.(Arg279His) NC_000003.12:161503343:G:A p.(Arg279His) NC_000003.12:161503343:G:A Identity +NM_020987.5:c.8177C>T NP_066267.2:p.Thr2726Ile NC_000010.11:60072703:G:A p.(Thr2726Ile) NC_000010.11:60072703:G:A p.(Thr2726Ile) NC_000010.11:60072703:G:A Identity +NM_170696.3:c.1268C>G NP_733797.1:p.Ser423Cys NC_000015.10:57961163:G:C p.(Ser423Cys) NC_000015.10:57961163:G:C p.(Ser423Cys) NC_000015.10:57961163:G:C Identity +NM_001303404.2:c.512T>A NP_001290333.1:p.Val171Glu NC_000010.11:100253531:A:T p.(Val171Glu) NC_000010.11:100253531:A:T p.(Val171Glu) NC_000010.11:100253531:A:T Identity +NM_000639.3:c.236C>A NP_000630.1:p.Thr79Lys NC_000001.11:172659436:C:A p.(Thr79Lys) NC_000001.11:172659436:C:A p.(Thr79Lys) NC_000001.11:172659436:C:A Identity +NM_001142275.1:c.175G>A NP_001135747.1:p.Val59Ile NC_000015.10:22820394:G:A p.(Val59Ile) NC_000015.10:22820394:G:A p.(Val59Ile) NC_000015.10:22820394:G:A Identity +NM_001278113.2:c.47T>A NP_001265042.1:p.Met16Lys NC_000008.11:39838138:A:T p.(Met16Lys) NC_000008.11:39838138:A:T p.(Met16Lys) NC_000008.11:39838138:A:T Identity +NM_001243974.2:c.821T>A NP_001230903.1:p.Ile274Asn NC_000008.11:22522540:T:A p.(Ile274Asn) NC_000008.11:22522540:T:A p.(Ile274Asn) NC_000008.11:22522540:T:A Identity +NM_018071.5:c.413A>G NP_060541.3:p.Asn138Ser NC_000014.9:21074142:A:G p.(Asn138Ser) NC_000014.9:21074142:A:G p.(Asn138Ser) NC_000014.9:21074142:A:G Identity +NM_005443.5:c.941A>G NP_005434.4:p.His314Arg NC_000004.12:107654854:T:C p.(His314Arg) NC_000004.12:107654854:T:C p.(His314Arg) NC_000004.12:107654854:T:C Identity +NM_016427.3:c.1122G>C NP_057511.2:p.Glu374Asp NC_000018.10:47034142:C:G p.(Glu374Asp) NC_000018.10:47034142:C:G p.(Glu374Asp) NC_000018.10:47034142:C:G Identity +NM_007039.4:c.1678A>T NP_008970.2:p.Thr560Ser NC_000014.9:88479752:T:A p.(Thr560Ser) NC_000014.9:88479752:T:A p.(Thr560Ser) NC_000014.9:88479752:T:A Identity +NM_005027.4:c.688G>A NP_005018.2:p.Gly230Ser NC_000019.10:18161367:G:A p.(Gly230Ser) NC_000019.10:18161367:G:A p.(Gly230Ser) NC_000019.10:18161367:G:A Identity +NM_001204456.2:c.1733A>G NP_001191385.1:p.His578Arg NC_000007.14:5065188:A:G p.(His578Arg) NC_000007.14:5065188:A:G p.(His578Arg) NC_000007.14:5065188:A:G Identity +NM_001136474.3:c.568G>A NP_001129946.1:p.Glu190Lys NC_000001.11:212972844:G:A p.(Glu190Lys) NC_000001.11:212972844:G:A p.(Glu190Lys) NC_000001.11:212972844:G:A Identity +NM_006417.5:c.1235G>A NP_006408.3:p.Arg412Gln NC_000001.11:78662824:G:A p.(Arg412Gln) NC_000001.11:78662824:G:A p.(Arg412Gln) NC_000001.11:78662824:G:A Identity +NM_001080973.1:c.1724G>A NP_001074442.1:p.Arg575Gln NC_000003.12:57097978:C:T ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001080973.1, alt_ac=NM_001080973.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001080973.1 not found +NM_001037335.2:c.113C>T NP_001032412.2:p.Ala38Val NC_000020.11:63572272:G:A p.(Ala38Val) NC_000020.11:63572272:G:A p.(Ala38Val) NC_000020.11:63572272:G:A Identity +NM_003292.3:c.3332A>G NP_003283.2:p.Gln1111Arg NC_000001.11:186344459:T:C p.(Gln1111Arg) NC_000001.11:186344459:T:C p.(Gln1111Arg) NC_000001.11:186344459:T:C Identity +NM_198451.4:c.556C>G NP_940853.1:p.Gln186Glu NC_000023.11:55624266:C:G p.(Gln186Glu) NC_000023.11:55624266:C:G p.(Gln186Glu) NC_000023.11:55624266:C:G Identity +NM_001039479.2:c.1679G>T NP_001034568.1:p.Gly560Val NC_000014.9:74670055:C:A p.(Gly560Val) NC_000014.9:74670055:C:A p.(Gly560Val) NC_000014.9:74670055:C:A Identity +NM_001369806.1:c.3223G>A NP_001356735.1:p.Ala1075Thr NC_000001.11:113973101:G:A p.(Ala1075Thr) NC_000001.11:113973101:G:A p.(Ala1075Thr) NC_000001.11:113973101:G:A Identity +NM_001178118.2:c.803G>A NP_001171589.1:p.Cys268Tyr NC_000010.11:87552419:G:A p.(Cys268Tyr) NC_000010.11:87552419:G:A p.(Cys268Tyr) NC_000010.11:87552419:G:A Identity +NM_001270381.3:c.1438A>G NP_001257310.1:p.Thr480Ala NC_000011.10:74843315:T:C p.(Thr480Ala) NC_000011.10:74843315:T:C p.(Thr480Ala) NC_000011.10:74843315:T:C Identity +NM_198281.3:c.1616A>G NP_938022.2:p.Lys539Arg NC_000004.12:89248494:T:C p.(Lys539Arg) NC_000004.12:89248494:T:C p.(Lys539Arg) NC_000004.12:89248494:T:C Identity +NM_001376502.1:c.575G>A NP_001363431.1:p.Arg192His NC_000011.10:8715612:C:T p.(Arg192His) NC_000011.10:8715612:C:T p.(Arg192His) NC_000011.10:8715612:C:T Identity +NM_001348052.1:c.35T>C NP_001334981.1:p.Leu12Pro NC_000007.14:29121026:A:G p.(Leu12Pro) NC_000007.14:29121026:A:G p.(Leu12Pro) NC_000007.14:29121026:A:G Identity +NM_001635.4:c.709C>A NP_001626.1:p.Gln237Lys NC_000007.14:38465506:G:T p.(Gln237Lys) NC_000007.14:38465506:G:T p.(Gln237Lys) NC_000007.14:38465506:G:T Identity +NM_001193268.3:c.2421G>T NP_001180197.1:p.Gln807His NC_000019.10:45613546:C:A p.(Gln807His) NC_000019.10:45613546:C:A p.(Gln807His) NC_000019.10:45613546:C:A Identity +NM_001385028.1:c.2660T>C NP_001371957.1:p.Val887Ala NC_000015.10:65913786:A:G p.(Val887Ala) NC_000015.10:65913786:A:G p.(Val887Ala) NC_000015.10:65913786:A:G Identity +NM_001371194.2:c.2395T>C NP_001358123.1:p.Phe799Leu NC_000009.12:89378897:A:G p.(Phe799Leu) NC_000009.12:89378897:A:G p.(Phe799Leu) NC_000009.12:89378897:A:G Identity +NM_018008.4:c.350G>A NP_060478.3:p.Gly117Glu NC_000003.12:62372518:C:T p.(Gly117Glu) NC_000003.12:62372518:C:T p.(Gly117Glu) NC_000003.12:62372518:C:T Identity +NM_014330.5:c.194G>T NP_055145.3:p.Arg65Met NC_000019.10:48873426:G:T p.(Arg65Met) NC_000019.10:48873426:G:T p.(Arg65Met) NC_000019.10:48873426:G:T Identity +NM_080830.3:c.198G>T NP_543020.2:p.Arg66Ser NC_000020.11:23452613:C:A p.(Arg66Ser) NC_000020.11:23452613:C:A p.(Arg66Ser) NC_000020.11:23452613:C:A Identity +NM_144666.3:c.14111T>G NP_653267.2:p.Val4704Gly NC_000011.10:6571834:T:G p.(Val4704Gly) NC_000011.10:6571834:T:G p.(Val4704Gly) NC_000011.10:6571834:T:G Identity +NM_001371097.1:c.647G>T NP_001358026.1:p.Gly216Val NC_000012.12:20862773:G:T p.(Gly216Val) NC_000012.12:20862773:G:T p.(Gly216Val) NC_000012.12:20862773:G:T Identity +NM_018370.3:c.409A>G NP_060840.2:p.Thr137Ala NC_000012.12:101908251:A:G p.(Thr137Ala) NC_000012.12:101908251:A:G p.(Thr137Ala) NC_000012.12:101908251:A:G Identity +NM_001122979.3:c.675A>G NP_001116451.1:p.Ala225= NC_000001.11:206959774:T:C p.(Ala225=) NC_000001.11:206959774:T:C p.(Ala225=) NC_000001.11:206959774:T:C Identity +NM_181745.4:c.731T>C NP_859529.2:p.Val244Ala NC_000010.11:93579192:T:C p.(Val244Ala) NC_000010.11:93579192:T:C p.(Val244Ala) NC_000010.11:93579192:T:C Identity +NM_001137560.2:c.1433G>A NP_001131032.1:p.Arg478His NC_000006.12:44276258:G:A p.(Arg478His) NC_000006.12:44276258:G:A p.(Arg478His) NC_000006.12:44276258:G:A Identity +NM_001170585.2:c.304G>A NP_001164056.1:p.Val102Met NC_000002.12:28525923:G:A p.(Val102Met) NC_000002.12:28525923:G:A p.(Val102Met) NC_000002.12:28525923:G:A Identity +NM_152716.3:c.1679A>G NP_689929.2:p.His560Arg NC_000011.10:59649515:T:C p.(His560Arg) NC_000011.10:59649515:T:C p.(His560Arg) NC_000011.10:59649515:T:C Identity +NM_173651.4:c.4857G>C NP_775922.3:p.Trp1619Cys NC_000002.12:185791992:G:C p.(Trp1619Cys) NC_000002.12:185791992:G:C p.(Trp1619Cys) NC_000002.12:185791992:G:C Identity +NM_001144958.2:c.2026C>A NP_001138430.1:p.Leu676Ile NC_000012.12:3619278:G:T p.(Leu676Ile) NC_000012.12:3619278:G:T p.(Leu676Ile) NC_000012.12:3619278:G:T Identity +NM_012417.4:c.676T>G NP_036549.2:p.Trp226Gly NC_000017.11:67675535:T:G p.(Trp226Gly) NC_000017.11:67675535:T:G p.(Trp226Gly) NC_000017.11:67675535:T:G Identity +NM_001045477.4:c.1091C>A NP_001038942.1:p.Pro364Gln NC_000009.12:96937171:C:A p.(Pro364Gln) NC_000009.12:96937171:C:A p.(Pro364Gln) NC_000009.12:96937171:C:A Identity +NM_001004301.4:c.848C>T NP_001004301.2:p.Thr283Met NC_000019.10:53491079:C:T p.(Thr283Met) NC_000019.10:53491079:C:T p.(Thr283Met) NC_000019.10:53491079:C:T Identity +NM_001897.5:c.878C>T NP_001888.2:p.Ala293Val NC_000015.10:75690186:G:A p.(Ala293Val) NC_000015.10:75690186:G:A p.(Ala293Val) NC_000015.10:75690186:G:A Identity +NM_018897.3:c.5219C>T NP_061720.2:p.Ser1740Phe NC_000002.12:195888808:G:A p.(Ser1740Phe) NC_000002.12:195888808:G:A p.(Ser1740Phe) NC_000002.12:195888808:G:A Identity +NM_001394372.1:c.722C>G NP_001381301.1:p.Pro241Arg NC_000019.10:47679891:C:G p.(Pro241Arg) NC_000019.10:47679891:C:G p.(Pro241Arg) NC_000019.10:47679891:C:G Identity +NM_001197295.2:c.65A>C NP_001184224.1:p.Asn22Thr NC_000009.12:92522801:T:G p.(Asn22Thr) NC_000009.12:92522801:T:G p.(Asn22Thr) NC_000009.12:92522801:T:G Identity +NM_020993.5:c.602G>A NP_066273.1:p.Arg201Gln NC_000012.12:122054966:G:A p.(Arg201Gln) NC_000012.12:122054966:G:A p.(Arg201Gln) NC_000012.12:122054966:G:A Identity +NM_030907.4:c.668G>A NP_112169.2:p.Gly223Glu NC_000001.11:16232156:C:T p.(Gly223Glu) NC_000001.11:16232156:C:T p.(Gly223Glu) NC_000001.11:16232156:C:T Identity +NM_001098402.2:c.1502A>C NP_001091872.1:p.Glu501Ala NC_000021.9:41992593:T:G p.(Glu501Ala) NC_000021.9:41992593:T:G p.(Glu501Ala) NC_000021.9:41992593:T:G Identity +NM_001033047.3:c.1544A>T NP_001028219.1:p.Asn515Ile NC_000004.12:105967385:A:T p.(Asn515Ile) NC_000004.12:105967385:A:T p.(Asn515Ile) NC_000004.12:105967385:A:T Identity +NM_001278458.2:c.1417A>G NP_001265387.1:p.Ser473Gly NC_000002.12:164704449:T:C p.(Ser473Gly) NC_000002.12:164704449:T:C p.(Ser473Gly) NC_000002.12:164704449:T:C Identity +NM_017409.4:c.955C>T NP_059105.2:p.Arg319Cys NC_000012.12:53989371:C:T p.(Arg319Cys) NC_000012.12:53989371:C:T p.(Arg319Cys) NC_000012.12:53989371:C:T Identity +NM_001129890.2:c.607A>C NP_001123362.1:p.Ile203Leu NC_000008.11:91135694:A:C p.(Ile203Leu) NC_000008.11:91135694:A:C p.(Ile203Leu) NC_000008.11:91135694:A:C Identity +NM_001413831.1:c.556G>A NP_001400760.1:p.Asp186Asn NC_000012.12:15666482:C:T p.(Asp186Asn) NC_000012.12:15666482:C:T p.(Asp186Asn) NC_000012.12:15666482:C:T Identity +NM_019087.3:c.124G>A NP_061960.1:p.Gly42Ser NC_000005.10:54171852:C:T p.(Gly42Ser) NC_000005.10:54171852:C:T p.(Gly42Ser) NC_000005.10:54171852:C:T Identity +NM_001170686.4:c.892C>G NP_001164157.3:p.Arg298Gly NC_000001.11:1625584:C:G p.(Arg298Gly) NC_000001.11:1625584:C:G p.(Arg298Gly) NC_000001.11:1625584:C:G Identity +NM_001080426.3:c.400G>T NP_001073895.1:p.Val134Leu NC_000001.11:167117521:G:T p.(Val134Leu) NC_000001.11:167117521:G:T p.(Val134Leu) NC_000001.11:167117521:G:T Identity +NM_001297707.3:c.3748A>G NP_001284636.1:p.Thr1250Ala NC_000001.11:200853386:A:G p.(Thr1250Ala) NC_000001.11:200853386:A:G p.(Thr1250Ala) NC_000001.11:200853386:A:G Identity +NM_001031666.2:c.221A>G NP_001026836.1:p.Asn74Ser NC_000011.10:60069649:A:G p.(Asn74Ser) NC_000011.10:60069649:A:G p.(Asn74Ser) NC_000011.10:60069649:A:G Identity +NM_001276282.4:c.779A>C NP_001263211.1:p.Tyr260Ser NC_000010.11:115129484:A:C p.(Tyr260Ser) NC_000010.11:115129484:A:C p.(Tyr260Ser) NC_000010.11:115129484:A:C Identity +NM_001308210.2:c.676G>A NP_001295139.1:p.Val226Met NC_000018.10:75286082:G:A p.(Val226Met) NC_000018.10:75286082:G:A p.(Val226Met) NC_000018.10:75286082:G:A Identity +NM_001105579.2:c.270C>A NP_001099049.1:p.Ser90Arg NC_000014.9:74409474:G:T p.(Ser90Arg) NC_000014.9:74409474:G:T p.(Ser90Arg) NC_000014.9:74409474:G:T Identity +NM_005113.4:c.1355G>C NP_005104.4:p.Gly452Ala NC_000014.9:92816284:G:C p.(Gly452Ala) NC_000014.9:92816284:G:C p.(Gly452Ala) NC_000014.9:92816284:G:C Identity +NM_001375638.1:c.512A>T NP_001362567.1:p.Asn171Ile NC_000019.10:54454514:A:T p.(Asn171Ile) NC_000019.10:54454514:A:T p.(Asn171Ile) NC_000019.10:54454514:A:T Identity +NM_001039674.1:c.3734G>A NP_001034763.1:p.Arg1245Gln NC_000017.11:5170694:G:A ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found ERR:AlignmentMapper(tx_ac=NM_001039674.1, alt_ac=NM_001039674.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001039674.1, alt_ac=NM_001039674.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001039674.1 not found +NM_001242498.2:c.80A>T NP_001229427.1:p.Lys27Ile NC_000017.11:75270115:T:A p.(Lys27Ile) NC_000017.11:75270115:T:A p.(Lys27Ile) NC_000017.11:75270115:T:A Identity +NM_001258351.2:c.216C>A NP_001245280.2:p.Asp72Glu NC_000019.10:548661:C:A p.(Asp72Glu) NC_000019.10:548661:C:A p.(Asp72Glu) NC_000019.10:548661:C:A Identity +NM_004882.4:c.1108G>A NP_004873.3:p.Gly370Ser NC_000002.12:174348741:C:T p.(Gly370Ser) NC_000002.12:174348741:C:T p.(Gly370Ser) NC_000002.12:174348741:C:T Identity +NM_001127173.3:c.467G>A NP_001120645.1:p.Gly156Glu NC_000001.11:159193506:G:A p.(Gly156Glu) NC_000001.11:159193506:G:A p.(Gly156Glu) NC_000001.11:159193506:G:A Identity +NM_001318336.2:c.1856A>C NP_001305265.1:p.Lys619Thr NC_000010.11:13660405:T:G p.(Lys619Thr) NC_000010.11:13660405:T:G p.(Lys619Thr) NC_000010.11:13660405:T:G Identity +NM_020529.3:c.415C>T NP_065390.1:p.Leu139Phe NC_000014.9:35403281:G:A p.(Leu139Phe) NC_000014.9:35403281:G:A p.(Leu139Phe) NC_000014.9:35403281:G:A Identity +NM_001318804.1:c.434A>G NP_001305733.1:p.Glu145Gly NC_000011.10:66423953:A:G p.(Glu145Gly) NC_000011.10:66423953:A:G p.(Glu145Gly) NC_000011.10:66423953:A:G Identity +NM_139175.2:c.662G>A NP_631914.1:p.Arg221Gln NC_000007.14:122698256:C:T p.(Arg221Gln) NC_000007.14:122698256:C:T p.(Arg221Gln) NC_000007.14:122698256:C:T Identity +NM_001146189.1:c.2389A>C NP_001139661.1:p.Ile797Leu NC_000018.10:74633407:A:C p.(Ile797Leu) NC_000018.10:74633407:A:C p.(Ile797Leu) NC_000018.10:74633407:A:C Identity +NM_001135861.3:c.362G>T NP_001129333.1:p.Arg121Leu NC_000009.12:136850775:G:T p.(Arg121Leu) NC_000009.12:136850775:G:T p.(Arg121Leu) NC_000009.12:136850775:G:T Identity +NM_004474.4:c.1129G>C NP_004465.3:p.Gly377Arg NC_000001.11:47439263:G:C p.(Gly377Arg) NC_000001.11:47439263:G:C p.(Gly377Arg) NC_000001.11:47439263:G:C Identity +NM_001362481.2:c.1059A>G NP_001349410.1:p.Ile353Met NC_000004.12:67514458:T:C p.(Ile353Met) NC_000004.12:67514458:T:C p.(Ile353Met) NC_000004.12:67514458:T:C Identity +NM_001370549.1:c.680C>G NP_001357478.1:p.Thr227Arg NC_000017.11:7042429:G:C p.(Thr227Arg) NC_000017.11:7042429:G:C p.(Thr227Arg) NC_000017.11:7042429:G:C Identity +NM_207352.4:c.463C>T NP_997235.3:p.His155Tyr NC_000004.12:186196988:C:T p.(His155Tyr) NC_000004.12:186196988:C:T p.(His155Tyr) NC_000004.12:186196988:C:T Identity +NM_001272096.1:c.79G>T NP_001259025.1:p.Ala27Ser NC_000016.10:31034088:G:T p.(Ala27Ser) NC_000016.10:31034088:G:T p.(Ala27Ser) NC_000016.10:31034088:G:T Identity +NM_001386136.1:c.1681T>C NP_001373065.1:p.Tyr561His NC_000002.12:74247065:A:G p.(Tyr561His) NC_000002.12:74247065:A:G p.(Tyr561His) NC_000002.12:74247065:A:G Identity +NM_003380.5:c.1090C>T NP_003371.2:p.Arg364Cys NC_000010.11:17235249:C:T p.(Arg364Cys) NC_000010.11:17235249:C:T p.(Arg364Cys) NC_000010.11:17235249:C:T Identity +NM_024980.5:c.913A>G NP_079256.4:p.Lys305Glu NC_000001.11:9104513:T:C p.(Lys305Glu) NC_000001.11:9104513:T:C p.(Lys305Glu) NC_000001.11:9104513:T:C Identity +NM_001161344.1:c.856G>A NP_001154816.1:p.Glu286Lys NC_000012.12:132859158:C:T p.(Glu286Lys) NC_000012.12:132859158:C:T p.(Glu286Lys) NC_000012.12:132859158:C:T Identity +NM_001001132.2:c.1742A>C NP_001001132.1:p.His581Pro NC_000021.9:33782050:A:C p.(His581Pro) NC_000021.9:33782050:A:C p.(His581Pro) NC_000021.9:33782050:A:C Identity +NM_019030.4:c.1817C>T NP_061903.2:p.Pro606Leu NC_000005.10:55283350:G:A p.(Pro606Leu) NC_000005.10:55283350:G:A p.(Pro606Leu) NC_000005.10:55283350:G:A Identity +NM_001135865.3:c.1171C>T NP_001129337.1:p.Arg391Cys NC_000016.10:22534153:C:T p.(Arg391Cys) NC_000016.10:22534153:C:T p.(Arg391Cys) NC_000016.10:22534153:C:T Identity +NM_002531.3:c.65C>T NP_002522.2:p.Ala22Val NC_000020.11:62709271:C:T p.(Ala22Val) NC_000020.11:62709271:C:T p.(Ala22Val) NC_000020.11:62709271:C:T Identity +NM_001320767.2:c.713A>G NP_001307696.1:p.Lys238Arg NC_000019.10:58261318:A:G p.(Lys238Arg) NC_000019.10:58261318:A:G p.(Lys238Arg) NC_000019.10:58261318:A:G Identity +NM_001042413.2:c.385A>C NP_001035878.1:p.Lys129Gln NC_000009.12:4286040:T:G p.(Lys129Gln) NC_000009.12:4286040:T:G p.(Lys129Gln) NC_000009.12:4286040:T:G Identity +NM_001318878.2:c.982G>A NP_001305807.1:p.Val328Ile NC_000010.11:132224456:C:T p.(Val328Ile) NC_000010.11:132224456:C:T p.(Val328Ile) NC_000010.11:132224456:C:T Identity +NM_004204.5:c.937G>A NP_004195.2:p.Ala313Thr NC_000016.10:576248:G:A p.(Ala313Thr) NC_000016.10:576248:G:A p.(Ala313Thr) NC_000016.10:576248:G:A Identity +NM_001164189.2:c.829A>G NP_001157661.1:p.Ser277Gly NC_000019.10:4847695:T:C p.(Ser277Gly) NC_000019.10:4847695:T:C p.(Ser277Gly) NC_000019.10:4847695:T:C Identity +NM_001286823.2:c.416T>C NP_001273752.1:p.Leu139Pro NC_000009.12:137372950:A:G p.(Leu139Pro) NC_000009.12:137372950:A:G p.(Leu139Pro) NC_000009.12:137372950:A:G Identity +NM_001170631.2:c.1144G>T NP_001164102.1:p.Val382Phe NC_000001.11:206960731:C:A p.(Val382Phe) NC_000001.11:206960731:C:A p.(Val382Phe) NC_000001.11:206960731:C:A Identity +NM_001136051.3:c.2158G>A NP_001129523.1:p.Val720Met NC_000012.12:58877597:C:T p.(Val720Met) NC_000012.12:58877597:C:T p.(Val720Met) NC_000012.12:58877597:C:T Identity +NM_001164690.2:c.968G>A NP_001158162.1:p.Gly323Asp NC_000012.12:53429452:G:A p.(Gly323Asp) NC_000012.12:53429452:G:A p.(Gly323Asp) NC_000012.12:53429452:G:A Identity +NM_001160045.2:c.74C>T NP_001153517.1:p.Pro25Leu NC_000012.12:57465178:C:T p.(Pro25Leu) NC_000012.12:57465178:C:T p.(Pro25Leu) NC_000012.12:57465178:C:T Identity +NM_006998.4:c.758G>A NP_008929.2:p.Cys253Tyr NC_000006.12:25701261:G:A p.(Cys253Tyr) NC_000006.12:25701261:G:A p.(Cys253Tyr) NC_000006.12:25701261:G:A Identity +NM_001393499.1:c.1301C>G NP_001380428.1:p.Ser434Cys NC_000006.12:42829633:C:G p.(Ser434Cys) NC_000006.12:42829633:C:G p.(Ser434Cys) NC_000006.12:42829633:C:G Identity +NM_001349742.2:c.1604C>T NP_001336671.1:p.Ser535Phe NC_000013.11:113548327:C:T p.(Ser535Phe) NC_000013.11:113548327:C:T p.(Ser535Phe) NC_000013.11:113548327:C:T Identity +NM_006739.4:c.1033G>A NP_006730.2:p.Gly345Arg NC_000022.11:35412622:G:A p.(Gly345Arg) NC_000022.11:35412622:G:A p.(Gly345Arg) NC_000022.11:35412622:G:A Identity +NM_017789.5:c.1457C>T NP_060259.4:p.Ala486Val NC_000002.12:96861880:G:A p.(Ala486Val) NC_000002.12:96861880:G:A p.(Ala486Val) NC_000002.12:96861880:G:A Identity +NM_001271927.3:c.1100G>A NP_001258856.1:p.Arg367Gln NC_000009.12:83903417:C:T p.(Arg367Gln) NC_000009.12:83903417:C:T p.(Arg367Gln) NC_000009.12:83903417:C:T Identity +NM_001102426.3:c.2248G>A NP_001095896.1:p.Asp750Asn NC_000002.12:101028361:C:T p.(Asp750Asn) NC_000002.12:101028361:C:T p.(Asp750Asn) NC_000002.12:101028361:C:T Identity +NM_001001438.3:c.263A>T NP_001001438.1:p.Gln88Leu NC_000021.9:46227607:T:A p.(Gln88Leu) NC_000021.9:46227607:T:A p.(Gln88Leu) NC_000021.9:46227607:T:A Identity +NM_001317958.2:c.79C>T NP_001304887.1:p.Pro27Ser NC_000009.12:132826919:G:A p.(Pro27Ser) NC_000009.12:132826919:G:A p.(Pro27Ser) NC_000009.12:132826919:G:A Identity +NM_001149.4:c.653A>T NP_001140.2:p.Asn218Ile NC_000010.11:60105981:T:A p.(Asn218Ile) NC_000010.11:60105981:T:A p.(Asn218Ile) NC_000010.11:60105981:T:A Identity +NM_001100176.2:c.703G>T NP_001093646.1:p.Ala235Ser NC_000019.10:12771216:C:A p.(Ala235Ser) NC_000019.10:12771216:C:A p.(Ala235Ser) NC_000019.10:12771216:C:A Identity +NM_001294335.2:c.1183C>A NP_001281264.1:p.Gln395Lys NC_000001.11:31742906:G:T p.(Gln395Lys) NC_000001.11:31742906:G:T p.(Gln395Lys) NC_000001.11:31742906:G:T Identity +NM_003782.4:c.84G>C NP_003773.1:p.Leu28Phe NC_000006.12:33277502:G:C p.(Leu28Phe) NC_000006.12:33277502:G:C p.(Leu28Phe) NC_000006.12:33277502:G:C Identity +NM_001256486.2:c.5269C>G NP_001243415.1:p.Leu1757Val NC_000003.12:121695253:G:C p.(Leu1757Val) NC_000003.12:121695253:G:C p.(Leu1757Val) NC_000003.12:121695253:G:C Identity +NM_005791.3:c.1733G>A NP_005782.1:p.Arg578Gln NC_000002.12:71149289:G:A p.(Arg578Gln) NC_000002.12:71149289:G:A p.(Arg578Gln) NC_000002.12:71149289:G:A Identity +NM_001282515.2:c.196C>T NP_001269444.1:p.Pro66Ser NC_000009.12:113049853:G:A p.(Pro66Ser) NC_000009.12:113049853:G:A p.(Pro66Ser) NC_000009.12:113049853:G:A Identity +NM_007182.5:c.74G>A NP_009113.3:p.Arg25Gln NC_000003.12:50340731:C:T p.(Arg25Gln) NC_000003.12:50340731:C:T p.(Arg25Gln) NC_000003.12:50340731:C:T Identity +NM_001069.3:c.446C>T NP_001060.1:p.Thr149Ile NC_000006.12:3154754:G:A p.(Thr149Ile) NC_000006.12:3154754:G:A p.(Thr149Ile) NC_000006.12:3154754:G:A Identity +NM_001080978.4:c.1492G>T NP_001074447.2:p.Ala498Ser NC_000019.10:54276444:C:A p.(Ala498Ser) NC_000019.10:54276444:C:A p.(Ala498Ser) NC_000019.10:54276444:C:A Identity +NM_004140.4:c.1807G>A NP_004131.4:p.Ala603Thr NC_000017.11:18237675:G:A p.(Ala603Thr) NC_000017.11:18237675:G:A p.(Ala603Thr) NC_000017.11:18237675:G:A Identity +NM_001080409.3:c.415A>G NP_001073878.2:p.Thr139Ala NC_000019.10:22759493:T:C p.(Thr139Ala) NC_000019.10:22759493:T:C p.(Thr139Ala) NC_000019.10:22759493:T:C Identity +NM_001287742.2:c.295A>G NP_001274671.1:p.Asn99Asp NC_000008.11:11809763:A:G p.(Asn99Asp) NC_000008.11:11809763:A:G p.(Asn99Asp) NC_000008.11:11809763:A:G Identity +NM_000129.4:c.530C>A NP_000120.2:p.Pro177Gln NC_000006.12:6266598:G:T p.(Pro177Gln) NC_000006.12:6266598:G:T p.(Pro177Gln) NC_000006.12:6266598:G:T Identity +NM_001318134.2:c.3682T>C NP_001305063.1:p.Ser1228Pro NC_000004.12:849689:A:G p.(Ser1228Pro) NC_000004.12:849689:A:G p.(Ser1228Pro) NC_000004.12:849689:A:G Identity +NM_001411052.1:c.2060C>G NP_001397981.1:p.Pro687Arg NC_000014.9:74782102:C:G p.(Pro687Arg) NC_000014.9:74782102:C:G p.(Pro687Arg) NC_000014.9:74782102:C:G Identity +NM_001197051.2:c.43G>A NP_001183980.1:p.Asp15Asn NC_000011.10:58579323:G:A p.(Asp15Asn) NC_000011.10:58579323:G:A p.(Asp15Asn) NC_000011.10:58579323:G:A Identity +NM_001105530.2:c.22G>A NP_001099000.2:p.Val8Ile NC_000001.11:40059367:G:A p.(Val8Ile) NC_000001.11:40059367:G:A p.(Val8Ile) NC_000001.11:40059367:G:A Identity +NM_001009811.4:c.80C>T NP_001009811.2:p.Pro27Leu NC_000017.11:81219976:G:A p.(Pro27Leu) NC_000017.11:81219976:G:A p.(Pro27Leu) NC_000017.11:81219976:G:A Identity +NM_001145966.2:c.6082G>A NP_001139438.1:p.Asp2028Asn NC_000010.11:128104677:C:T p.(Asp2028Asn) NC_000010.11:128104677:C:T p.(Asp2028Asn) NC_000010.11:128104677:C:T Identity +NM_001321431.2:c.2624C>T NP_001308360.1:p.Ser875Phe NC_000019.10:8125998:G:A p.(Ser875Phe) NC_000019.10:8125998:G:A p.(Ser875Phe) NC_000019.10:8125998:G:A Identity +NM_005012.4:c.1990A>G NP_005003.2:p.Ile664Val NC_000001.11:64178030:A:G p.(Ile664Val) NC_000001.11:64178030:A:G p.(Ile664Val) NC_000001.11:64178030:A:G Identity +NM_001314021.2:c.3853G>A NP_001300950.1:p.Glu1285Lys NC_000001.11:229645915:G:A p.(Glu1285Lys) NC_000001.11:229645915:G:A p.(Glu1285Lys) NC_000001.11:229645915:G:A Identity +NM_001243759.2:c.1082G>C NP_001230688.1:p.Arg361Pro NC_000011.10:119356841:C:G p.(Arg361Pro) NC_000011.10:119356841:C:G p.(Arg361Pro) NC_000011.10:119356841:C:G Identity +NM_198281.3:c.1367C>A NP_938022.2:p.Ala456Glu NC_000004.12:89248743:G:T p.(Ala456Glu) NC_000004.12:89248743:G:T p.(Ala456Glu) NC_000004.12:89248743:G:T Identity +NM_012365.2:c.422G>A NP_036497.1:p.Cys141Tyr NC_000007.14:144050822:G:A p.(Cys141Tyr) NC_000007.14:144050822:G:A p.(Cys141Tyr) NC_000007.14:144050822:G:A Identity +NM_017818.4:c.986C>T NP_060288.3:p.Pro329Leu NC_000001.11:3632274:G:A p.(Pro329Leu) NC_000001.11:3632274:G:A p.(Pro329Leu) NC_000001.11:3632274:G:A Identity +NM_001002843.3:c.2810T>C NP_001002843.1:p.Val937Ala NC_000015.10:56631588:A:G p.(Val937Ala) NC_000015.10:56631588:A:G p.(Val937Ala) NC_000015.10:56631588:A:G Identity +NM_001323342.2:c.3398A>T NP_001310271.1:p.Glu1133Val NC_000001.11:246864065:T:A p.(Glu1133Val) NC_000001.11:246864065:T:A p.(Glu1133Val) NC_000001.11:246864065:T:A Identity +NM_001127235.2:c.646A>G NP_001120707.2:p.Lys216Glu NC_000005.10:57246445:A:G p.(Lys216Glu) NC_000005.10:57246445:A:G p.(Lys216Glu) NC_000005.10:57246445:A:G Identity +NM_001313972.2:c.676A>G NP_001300901.1:p.Ser226Gly NC_000001.11:145994427:T:C p.(Ser226Gly) NC_000001.11:145994427:T:C p.(Ser226Gly) NC_000001.11:145994427:T:C Identity +NM_001195573.1:c.1516A>G NP_001182502.1:p.Arg506Gly NC_000014.9:95116688:T:C p.(Arg506Gly) NC_000014.9:95116688:T:C p.(Arg506Gly) NC_000014.9:95116688:T:C Identity +NM_001286242.2:c.5662C>T NP_001273171.1:p.Leu1888Phe NC_000016.10:27464529:G:A p.(Leu1888Phe) NC_000016.10:27464529:G:A p.(Leu1888Phe) NC_000016.10:27464529:G:A Identity +NM_001131067.1:c.1130A>G NP_001124539.1:p.Asp377Gly NC_000019.10:45152667:T:C ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131067.1, alt_ac=NM_001131067.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131067.1 not found +NM_018924.5:c.120G>T NP_061747.2:p.Glu40Asp NC_000005.10:141370513:G:T p.(Glu40Asp) NC_000005.10:141370513:G:T p.(Glu40Asp) NC_000005.10:141370513:G:T Identity +NM_014691.3:c.566A>G NP_055506.1:p.Lys189Arg NC_000015.10:34940973:T:C p.(Lys189Arg) NC_000015.10:34940973:T:C p.(Lys189Arg) NC_000015.10:34940973:T:C Identity +NM_031935.3:c.62C>T NP_114141.2:p.Ala21Val NC_000001.11:185734840:C:T p.(Ala21Val) NC_000001.11:185734840:C:T p.(Ala21Val) NC_000001.11:185734840:C:T Identity +NM_145720.4:c.712A>G NP_663772.1:p.Thr238Ala NC_000004.12:152770292:T:C p.(Thr238Ala) NC_000004.12:152770292:T:C p.(Thr238Ala) NC_000004.12:152770292:T:C Identity +NM_007365.3:c.1579A>T NP_031391.2:p.Thr527Ser NC_000001.11:17071461:T:A p.(Thr527Ser) NC_000001.11:17071461:T:A p.(Thr527Ser) NC_000001.11:17071461:T:A Identity +NM_018670.4:c.332C>T NP_061140.1:p.Pro111Leu NC_000015.10:89750899:G:A p.(Pro111Leu) NC_000015.10:89750899:G:A p.(Pro111Leu) NC_000015.10:89750899:G:A Identity +NM_001145338.2:c.1018C>G NP_001138810.1:p.Leu340Val NC_000006.12:33315898:G:C p.(Leu340Val) NC_000006.12:33315898:G:C p.(Leu340Val) NC_000006.12:33315898:G:C Identity +NM_001004689.2:c.536G>A NP_001004689.1:p.Cys179Tyr NC_000001.11:248203602:G:A p.(Cys179Tyr) NC_000001.11:248203602:G:A p.(Cys179Tyr) NC_000001.11:248203602:G:A Identity +NM_001297614.3:c.973C>A NP_001284543.1:p.Pro325Thr NC_000006.12:85547336:G:T p.(Pro325Thr) NC_000006.12:85547336:G:T p.(Pro325Thr) NC_000006.12:85547336:G:T Identity +NM_001005367.3:c.407T>C NP_001005367.1:p.Ile136Thr NC_000019.10:54421377:T:C p.(Ile136Thr) NC_000019.10:54421377:T:C p.(Ile136Thr) NC_000019.10:54421377:T:C Identity +NM_001317037.2:c.1480C>A NP_001303966.1:p.Gln494Lys NC_000009.12:127727062:C:A p.(Gln494Lys) NC_000009.12:127727062:C:A p.(Gln494Lys) NC_000009.12:127727062:C:A Identity +NM_017514.5:c.2282T>C NP_059984.3:p.Leu761Pro NC_000023.11:154465460:T:C p.(Leu761Pro) NC_000023.11:154465460:T:C p.(Leu761Pro) NC_000023.11:154465460:T:C Identity +NM_031439.4:c.870C>A NP_113627.1:p.His290Gln NC_000008.11:10726034:G:T p.(His290Gln) NC_000008.11:10726034:G:T p.(His290Gln) NC_000008.11:10726034:G:T Identity +NM_001308081.2:c.104C>T NP_001295010.1:p.Pro35Leu NC_000005.10:118944565:G:A p.(Pro35Leu) NC_000005.10:118944565:G:A p.(Pro35Leu) NC_000005.10:118944565:G:A Identity +NM_139278.4:c.814T>C NP_644807.1:p.Tyr272His NC_000008.11:22151503:A:G p.(Tyr272His) NC_000008.11:22151503:A:G p.(Tyr272His) NC_000008.11:22151503:A:G Identity +NM_001288776.2:c.403T>C NP_001275705.2:p.Ser135Pro NC_000016.10:2229662:T:C p.(Ser135Pro) NC_000016.10:2229662:T:C p.(Ser135Pro) NC_000016.10:2229662:T:C Identity +NM_001135685.2:c.1663C>T NP_001129157.1:p.Leu555Phe NC_000015.10:41504839:G:A p.(Leu555Phe) NC_000015.10:41504839:G:A p.(Leu555Phe) NC_000015.10:41504839:G:A Identity +NM_153366.4:c.803G>A NP_699197.3:p.Ser268Asn NC_000009.12:110546275:C:T p.(Ser268Asn) NC_000009.12:110546275:C:T p.(Ser268Asn) NC_000009.12:110546275:C:T Identity +NM_001005291.3:c.772A>G NP_001005291.1:p.Thr258Ala NC_000017.11:17819566:T:C p.(Thr258Ala) NC_000017.11:17819566:T:C p.(Thr258Ala) NC_000017.11:17819566:T:C Identity +NM_001201338.2:c.2609G>A NP_001188267.1:p.Arg870Gln NC_000019.10:5667870:G:A p.(Arg870Gln) NC_000019.10:5667870:G:A p.(Arg870Gln) NC_000019.10:5667870:G:A Identity +NM_001105513.3:c.1996T>C NP_001098983.2:p.Tyr666His NC_000003.12:39129293:T:C p.(Tyr666His) NC_000003.12:39129293:T:C p.(Tyr666His) NC_000003.12:39129293:T:C Identity +NM_019098.5:c.1595T>C NP_061971.3:p.Met532Thr NC_000008.11:86611654:A:G p.(Met532Thr) NC_000008.11:86611654:A:G p.(Met532Thr) NC_000008.11:86611654:A:G Identity +NM_001010872.3:c.401C>T NP_001010872.1:p.Thr134Met NC_000006.12:54870646:C:T p.(Thr134Met) NC_000006.12:54870646:C:T p.(Thr134Met) NC_000006.12:54870646:C:T Identity +NM_001037335.2:c.5933C>T NP_001032412.2:p.Thr1978Met NC_000020.11:63562888:G:A p.(Thr1978Met) NC_000020.11:63562888:G:A p.(Thr1978Met) NC_000020.11:63562888:G:A Identity +NM_012249.4:c.400A>G NP_036381.2:p.Arg134Gly NC_000002.12:46576593:A:G p.(Arg134Gly) NC_000002.12:46576593:A:G p.(Arg134Gly) NC_000002.12:46576593:A:G Identity +NM_144666.3:c.1625C>T NP_653267.2:p.Ser542Phe NC_000011.10:6519831:C:T p.(Ser542Phe) NC_000011.10:6519831:C:T p.(Ser542Phe) NC_000011.10:6519831:C:T Identity +NM_002390.6:c.533G>A NP_002381.2:p.Gly178Glu NC_000017.11:44771820:G:A p.(Gly178Glu) NC_000017.11:44771820:G:A p.(Gly178Glu) NC_000017.11:44771820:G:A Identity +NM_001173514.2:c.55G>T NP_001166985.1:p.Val19Leu NC_000019.10:35908173:C:A p.(Val19Leu) NC_000019.10:35908173:C:A p.(Val19Leu) NC_000019.10:35908173:C:A Identity +NM_021035.3:c.1567C>G NP_066363.1:p.Gln523Glu NC_000020.11:49270244:G:C p.(Gln523Glu) NC_000020.11:49270244:G:C p.(Gln523Glu) NC_000020.11:49270244:G:C Identity +NM_020689.4:c.765G>A NP_065740.2:p.Met255Ile NC_000020.11:19673651:G:A p.(Met255Ile) NC_000020.11:19673651:G:A p.(Met255Ile) NC_000020.11:19673651:G:A Identity +NM_001286581.2:c.4401C>G NP_001273510.1:p.Asp1467Glu NC_000011.10:610331:C:G p.(Asp1467Glu) NC_000011.10:610331:C:G p.(Asp1467Glu) NC_000011.10:610331:C:G Identity +NM_001163278.2:c.5068A>G NP_001156750.1:p.Lys1690Glu NC_000023.11:124406403:T:C p.(Lys1690Glu) NC_000023.11:124406403:T:C p.(Lys1690Glu) NC_000023.11:124406403:T:C Identity +NM_001350233.2:c.1355G>A NP_001337162.1:p.Arg452Gln NC_000004.12:8475804:G:A p.(Arg452Gln) NC_000004.12:8475804:G:A p.(Arg452Gln) NC_000004.12:8475804:G:A Identity +NM_014675.5:c.3092T>A NP_055490.4:p.Leu1031Gln NC_000001.11:16953386:T:A p.(Leu1031Gln) NC_000001.11:16953386:T:A p.(Leu1031Gln) NC_000001.11:16953386:T:A Identity +NM_002732.4:c.700G>C NP_002723.2:p.Val234Leu NC_000009.12:69013392:C:G p.(Val234Leu) NC_000009.12:69013392:C:G p.(Val234Leu) NC_000009.12:69013392:C:G Identity +NM_004535.3:c.1709G>A NP_004526.1:p.Arg570Lys NC_000020.11:64217143:G:A p.(Arg570Lys) NC_000020.11:64217143:G:A p.(Arg570Lys) NC_000020.11:64217143:G:A Identity +NM_001161841.2:c.2224A>T NP_001155313.1:p.Thr742Ser NC_000020.11:47663455:T:A p.(Thr742Ser) NC_000020.11:47663455:T:A p.(Thr742Ser) NC_000020.11:47663455:T:A Identity +NM_019851.3:c.23G>C NP_062825.1:p.Gly8Ala NC_000008.11:17002009:C:G p.(Gly8Ala) NC_000008.11:17002009:C:G p.(Gly8Ala) NC_000008.11:17002009:C:G Identity +NM_001146728.2:c.72A>C NP_001140200.2:p.Lys24Asn NC_000011.10:63490962:T:G p.(Lys24Asn) NC_000011.10:63490962:T:G p.(Lys24Asn) NC_000011.10:63490962:T:G Identity +NM_015231.3:c.3503C>T NP_056046.2:p.Ser1168Leu NC_000011.10:47788517:G:A p.(Ser1168Leu) NC_000011.10:47788517:G:A p.(Ser1168Leu) NC_000011.10:47788517:G:A Identity +NM_001130066.2:c.1408A>G NP_001123538.1:p.Met470Val NC_000006.12:33438439:A:G p.(Met470Val) NC_000006.12:33438439:A:G p.(Met470Val) NC_000006.12:33438439:A:G Identity +NM_003750.4:c.3847C>G NP_003741.1:p.Leu1283Val NC_000010.11:119037190:G:C p.(Leu1283Val) NC_000010.11:119037190:G:C p.(Leu1283Val) NC_000010.11:119037190:G:C Identity +NM_001159291.2:c.1632T>G NP_001152763.1:p.Ser544Arg NC_000006.12:109447928:A:C p.(Ser544Arg) NC_000006.12:109447928:A:C p.(Ser544Arg) NC_000006.12:109447928:A:C Identity +NM_001145134.2:c.625T>C NP_001138606.1:p.Tyr209His NC_000022.11:50576084:A:G p.(Tyr209His) NC_000022.11:50576084:A:G p.(Tyr209His) NC_000022.11:50576084:A:G Identity +NM_001345998.2:c.1003A>G NP_001332927.1:p.Thr335Ala NC_000005.10:37605151:A:G p.(Thr335Ala) NC_000005.10:37605151:A:G p.(Thr335Ala) NC_000005.10:37605151:A:G Identity +NM_001080826.3:c.3704G>A NP_001074295.2:p.Ser1235Asn NC_000008.11:8318670:C:T p.(Ser1235Asn) NC_000008.11:8318670:C:T p.(Ser1235Asn) NC_000008.11:8318670:C:T Identity +NM_017590.6:c.1477G>A NP_060060.3:p.Asp493Asn NC_000022.11:41346019:G:A p.(Asp493Asn) NC_000022.11:41346019:G:A p.(Asp493Asn) NC_000022.11:41346019:G:A Identity +NM_000448.3:c.459C>A NP_000439.2:p.Asp153Glu NC_000011.10:36573762:C:A p.(Asp153Glu) NC_000011.10:36573762:C:A p.(Asp153Glu) NC_000011.10:36573762:C:A Identity +NM_016582.3:c.244G>A NP_057666.1:p.Ala82Thr NC_000011.10:60951307:C:T p.(Ala82Thr) NC_000011.10:60951307:C:T p.(Ala82Thr) NC_000011.10:60951307:C:T Identity +NM_001350929.2:c.7621G>A NP_001337858.1:p.Val2541Met NC_000014.9:104947529:C:T p.(Val2541Met) NC_000014.9:104947529:C:T p.(Val2541Met) NC_000014.9:104947529:C:T Identity +NM_005554.4:c.680G>A NP_005545.1:p.Ser227Asn NC_000012.12:52491596:C:T p.(Ser227Asn) NC_000012.12:52491596:C:T p.(Ser227Asn) NC_000012.12:52491596:C:T Identity +NM_001004487.1:c.514C>T NP_001004487.1:p.His172Tyr NC_000009.12:35869887:G:A p.(His172Tyr) NC_000009.12:35869887:G:A p.(His172Tyr) NC_000009.12:35869887:G:A Identity +NM_001004736.4:c.902T>C NP_001004736.2:p.Leu301Ser NC_000003.12:98470477:T:C p.(Leu301Ser) NC_000003.12:98470477:T:C p.(Leu301Ser) NC_000003.12:98470477:T:C Identity +NM_001346201.2:c.2699G>A NP_001333130.1:p.Arg900Gln NC_000012.12:64128087:G:A p.(Arg900Gln) NC_000012.12:64128087:G:A p.(Arg900Gln) NC_000012.12:64128087:G:A Identity +NM_182833.3:c.487G>A NP_878253.1:p.Val163Met NC_000011.10:77269060:C:T p.(Val163Met) NC_000011.10:77269060:C:T p.(Val163Met) NC_000011.10:77269060:C:T Identity +NM_001014831.3:c.1195G>C NP_001014831.1:p.Glu399Gln NC_000019.10:39175026:G:C p.(Glu399Gln) NC_000019.10:39175026:G:C p.(Glu399Gln) NC_000019.10:39175026:G:C Identity +NM_001008272.2:c.137C>T NP_001008273.1:p.Pro46Leu NC_000003.12:111999558:C:T p.(Pro46Leu) NC_000003.12:111999558:C:T p.(Pro46Leu) NC_000003.12:111999558:C:T Identity +NM_004623.5:c.779A>T NP_004614.3:p.Asn260Ile NC_000001.11:54731582:A:T p.(Asn260Ile) NC_000001.11:54731582:A:T p.(Asn260Ile) NC_000001.11:54731582:A:T Identity +NM_001184785.2:c.2440G>A NP_001171714.1:p.Ala814Thr NC_000010.11:34337394:C:T p.(Ala814Thr) NC_000010.11:34337394:C:T p.(Ala814Thr) NC_000010.11:34337394:C:T Identity +NM_001198838.2:c.820C>A NP_001185767.1:p.Pro274Thr NC_000020.11:35654502:G:T p.(Pro274Thr) NC_000020.11:35654502:G:T p.(Pro274Thr) NC_000020.11:35654502:G:T Identity +NM_004526.4:c.2485A>G NP_004517.2:p.Asn829Asp NC_000003.12:127621108:A:G p.(Asn829Asp) NC_000003.12:127621108:A:G p.(Asn829Asp) NC_000003.12:127621108:A:G Identity +NM_001320316.2:c.1411G>C NP_001307245.2:p.Glu471Gln NC_000003.12:119739263:G:C p.(Glu471Gln) NC_000003.12:119739263:G:C p.(Glu471Gln) NC_000003.12:119739263:G:C Identity +NM_001033677.2:c.839A>G NP_001028849.1:p.His280Arg NC_000012.12:120660739:A:G p.(His280Arg) NC_000012.12:120660739:A:G p.(His280Arg) NC_000012.12:120660739:A:G Identity +NM_001004019.2:c.1709C>T NP_001004019.1:p.Pro570Leu NC_000003.12:13614143:C:T p.(Pro570Leu) NC_000003.12:13614143:C:T p.(Pro570Leu) NC_000003.12:13614143:C:T Identity +NM_004203.5:c.14C>T NP_004194.3:p.Pro5Leu NC_000016.10:2977027:G:A p.(Pro5Leu) NC_000016.10:2977027:G:A p.(Pro5Leu) NC_000016.10:2977027:G:A Identity +NM_001308047.2:c.5515C>G NP_001294976.1:p.Leu1839Val NC_000009.12:76706758:G:C p.(Leu1839Val) NC_000009.12:76706758:G:C p.(Leu1839Val) NC_000009.12:76706758:G:C Identity +NM_016190.3:c.1204G>A NP_057274.1:p.Gly402Arg NC_000001.11:152409877:C:T p.(Gly402Arg) NC_000001.11:152409877:C:T p.(Gly402Arg) NC_000001.11:152409877:C:T Identity +NM_001410891.1:c.1450A>G NP_001397820.1:p.Arg484Gly NC_000001.11:166921083:T:C p.(Arg484Gly) NC_000001.11:166921083:T:C p.(Arg484Gly) NC_000001.11:166921083:T:C Identity +NM_001174081.3:c.3149C>T NP_001167552.1:p.Pro1050Leu NC_000019.10:55000857:C:T p.(Pro1050Leu) NC_000019.10:55000857:C:T p.(Pro1050Leu) NC_000019.10:55000857:C:T Identity +NM_001009566.3:c.1775G>T NP_001009566.1:p.Gly592Val NC_000001.11:9735574:C:A p.(Gly592Val) NC_000001.11:9735574:C:A p.(Gly592Val) NC_000001.11:9735574:C:A Identity +NM_001199853.2:c.13G>A NP_001186782.1:p.Ala5Thr NC_000009.12:4722553:C:T p.(Ala5Thr) NC_000009.12:4722553:C:T p.(Ala5Thr) NC_000009.12:4722553:C:T Identity +NM_001143773.1:c.697T>G NP_001137245.1:p.Ser233Ala NC_000010.11:59264162:A:C p.(Ser233Ala) NC_000010.11:59264162:A:C p.(Ser233Ala) NC_000010.11:59264162:A:C Identity +NM_001305654.2:c.485A>C NP_001292583.1:p.Gln162Pro NC_000020.11:63738433:A:C p.(Gln162Pro) NC_000020.11:63738433:A:C p.(Gln162Pro) NC_000020.11:63738433:A:C Identity +NM_012089.3:c.785T>G NP_036221.2:p.Phe262Cys NC_000001.11:229547634:A:C p.(Phe262Cys) NC_000001.11:229547634:A:C p.(Phe262Cys) NC_000001.11:229547634:A:C Identity +NM_001318758.2:c.1341A>T NP_001305687.1:p.Lys447Asn NC_000009.12:33307263:A:T p.(Lys447Asn) NC_000009.12:33307263:A:T p.(Lys447Asn) NC_000009.12:33307263:A:T Identity +NM_001005192.2:c.790G>C NP_001005192.2:p.Val264Leu NC_000019.10:9114973:C:G p.(Val264Leu) NC_000019.10:9114973:C:G p.(Val264Leu) NC_000019.10:9114973:C:G Identity +NM_138423.4:c.1082T>C NP_612432.2:p.Phe361Ser NC_000015.10:44402895:T:C p.(Phe361Ser) NC_000015.10:44402895:T:C p.(Phe361Ser) NC_000015.10:44402895:T:C Identity +NM_080833.3:c.535C>T NP_543023.2:p.Arg179Trp NC_000020.11:62415796:G:A p.(Arg179Trp) NC_000020.11:62415796:G:A p.(Arg179Trp) NC_000020.11:62415796:G:A Identity +NM_001008537.3:c.3459C>A NP_001008537.1:p.Asn1153Lys NC_000023.11:74741097:G:T p.(Asn1153Lys) NC_000023.11:74741097:G:T p.(Asn1153Lys) NC_000023.11:74741097:G:T Identity +NM_012471.3:c.50G>T NP_036603.1:p.Arg17Leu NC_000023.11:111952370:C:A p.(Arg17Leu) NC_000023.11:111952370:C:A p.(Arg17Leu) NC_000023.11:111952370:C:A Identity +NM_001126334.1:c.335C>T NP_001119806.1:p.Ser112Leu NC_000009.12:65284042:G:A p.(Ser112Leu) NC_000009.12:65284042:G:A p.(Ser112Leu) NC_000009.12:65284042:G:A Identity +NM_004886.4:c.1417G>T NP_004877.1:p.Val473Leu NC_000019.10:3751531:C:A p.(Val473Leu) NC_000019.10:3751531:C:A p.(Val473Leu) NC_000019.10:3751531:C:A Identity +NM_001160354.2:c.50C>A NP_001153826.1:p.Thr17Lys NC_000008.11:142700576:C:A p.(Thr17Lys) NC_000008.11:142700576:C:A p.(Thr17Lys) NC_000008.11:142700576:C:A Identity +NM_003959.3:c.2395C>T NP_003950.1:p.Arg799Trp NC_000012.12:122859524:C:T p.(Arg799Trp) NC_000012.12:122859524:C:T p.(Arg799Trp) NC_000012.12:122859524:C:T Identity +NM_001291571.2:c.2130T>G NP_001278500.1:p.Asp710Glu NC_000017.11:43200269:T:G p.(Asp710Glu) NC_000017.11:43200269:T:G p.(Asp710Glu) NC_000017.11:43200269:T:G Identity +NM_001316772.1:c.319ATT[1] NP_001303701.1:p.Ile108del NC_000007.14:30601110:TATTATT:TATT p.(Ile108del) NC_000007.14:30601111:A:ATT ERR:Parse ERR:Parse Identity +NM_001005192.2:c.763G>C NP_001005192.2:p.Ala255Pro NC_000019.10:9115000:C:G p.(Ala255Pro) NC_000019.10:9115000:C:G p.(Ala255Pro) NC_000019.10:9115000:C:G Identity +NM_001017970.3:c.551G>A NP_001017970.1:p.Gly184Glu NC_000014.9:61280596:C:T p.(Gly184Glu) NC_000014.9:61280596:C:T p.(Gly184Glu) NC_000014.9:61280596:C:T Identity +NM_001003407.2:c.1817G>C NP_001003407.1:p.Arg606Pro NC_000010.11:114441722:C:G p.(Arg606Pro) NC_000010.11:114441722:C:G p.(Arg606Pro) NC_000010.11:114441722:C:G Identity +NM_001142854.2:c.542A>G NP_001136326.1:p.Asn181Ser NC_000021.9:46168309:T:C p.(Asn181Ser) NC_000021.9:46168309:T:C p.(Asn181Ser) NC_000021.9:46168309:T:C Identity +NM_001329214.4:c.403G>T NP_001316143.1:p.Gly135Cys NC_000014.9:39246976:G:T p.(Gly135Cys) NC_000014.9:39246976:G:T p.(Gly135Cys) NC_000014.9:39246976:G:T Identity +NM_000410.4:c.397G>A NP_000401.1:p.Glu133Lys NC_000006.12:26091369:G:A p.(Glu133Lys) NC_000006.12:26091369:G:A p.(Glu133Lys) NC_000006.12:26091369:G:A Identity +NM_001142307.2:c.223A>G NP_001135779.1:p.Thr75Ala NC_000011.10:18335821:A:G p.(Thr75Ala) NC_000011.10:18335821:A:G p.(Thr75Ala) NC_000011.10:18335821:A:G Identity +NM_001365276.2:c.668A>G NP_001352205.1:p.Gln223Arg NC_000006.12:32097184:T:C p.(Gln223Arg) NC_000006.12:32097184:T:C p.(Gln223Arg) NC_000006.12:32097184:T:C Identity +NM_001316996.2:c.872A>C NP_001303925.1:p.Lys291Thr NC_000019.10:22088717:A:C p.(Lys291Thr) NC_000019.10:22088717:A:C p.(Lys291Thr) NC_000019.10:22088717:A:C Identity +NM_012103.2:c.629G>T NP_036235.1:p.Arg210Ile NC_000002.12:74528843:C:A ERR:Data provider error: ValueError: Transcript NM_012103.2 not found ERR:Data provider error: ValueError: Transcript NM_012103.2 not found ERR:AlignmentMapper(tx_ac=NM_012103.2, alt_ac=NM_012103.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_012103.2, alt_ac=NM_012103.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_012103.2 not found +NM_001034025.2:c.100C>T NP_001029197.1:p.His34Tyr NC_000012.12:112013564:C:T p.(His34Tyr) NC_000012.12:112013564:C:T p.(His34Tyr) NC_000012.12:112013564:C:T Identity +NM_001317991.2:c.515G>A NP_001304920.1:p.Gly172Glu NC_000009.12:35107759:C:T p.(Gly172Glu) NC_000009.12:35107759:C:T p.(Gly172Glu) NC_000009.12:35107759:C:T Identity +NM_002772.3:c.857T>C NP_002763.3:p.Val286Ala NC_000021.9:18359779:A:G p.(Val286Ala) NC_000021.9:18359779:A:G p.(Val286Ala) NC_000021.9:18359779:A:G Identity +NM_003126.4:c.3940T>A NP_003117.2:p.Ser1314Thr NC_000001.11:158645550:A:T p.(Ser1314Thr) NC_000001.11:158645550:A:T p.(Ser1314Thr) NC_000001.11:158645550:A:T Identity +NM_001363744.1:c.1273C>G NP_001350673.1:p.Gln425Glu NC_000008.11:16120420:G:C p.(Gln425Glu) NC_000008.11:16120420:G:C p.(Gln425Glu) NC_000008.11:16120420:G:C Identity +NM_001290325.1:c.2326G>C NP_001277254.1:p.Val776Leu NC_000004.12:143214301:G:C p.(Val776Leu) NC_000004.12:143214301:G:C p.(Val776Leu) NC_000004.12:143214301:G:C Identity +NM_001001661.3:c.2236A>G NP_001001661.1:p.Lys746Glu NC_000007.14:149103634:T:C p.(Lys746Glu) NC_000007.14:149103634:T:C p.(Lys746Glu) NC_000007.14:149103634:T:C Identity +NM_001366661.1:c.1682G>A NP_001353590.1:p.Arg561His NC_000017.11:2698174:C:T p.(Arg561His) NC_000017.11:2698174:C:T p.(Arg561His) NC_000017.11:2698174:C:T Identity +NM_001012339.3:c.1384A>G NP_001012339.2:p.Thr462Ala NC_000005.10:34953950:A:G p.(Thr462Ala) NC_000005.10:34953950:A:G p.(Thr462Ala) NC_000005.10:34953950:A:G Identity +NM_018012.4:c.364G>C NP_060482.2:p.Gly122Arg NC_000001.11:245156581:G:C p.(Gly122Arg) NC_000001.11:245156581:G:C p.(Gly122Arg) NC_000001.11:245156581:G:C Identity +NM_001168299.2:c.577G>T NP_001161771.1:p.Gly193Trp NC_000023.11:117919522:C:A p.(Gly193Trp) NC_000023.11:117919522:C:A p.(Gly193Trp) NC_000023.11:117919522:C:A Identity +NM_001142614.2:c.710A>G NP_001136086.1:p.Asp237Gly NC_000002.12:62859243:A:G p.(Asp237Gly) NC_000002.12:62859243:A:G p.(Asp237Gly) NC_000002.12:62859243:A:G Identity +NM_001300780.2:c.1588G>A NP_001287709.1:p.Asp530Asn NC_000005.10:116477906:C:T p.(Asp530Asn) NC_000005.10:116477906:C:T p.(Asp530Asn) NC_000005.10:116477906:C:T Identity +NM_003014.4:c.35G>C NP_003005.2:p.Trp12Ser NC_000007.14:37916502:C:G p.(Trp12Ser) NC_000007.14:37916502:C:G p.(Trp12Ser) NC_000007.14:37916502:C:G Identity +NM_000496.3:c.261C>A NP_000487.1:p.Ser87Arg NC_000022.11:25227939:C:A p.(Ser87Arg) NC_000022.11:25227939:C:A p.(Ser87Arg) NC_000022.11:25227939:C:A Identity +NM_003514.2:c.14G>T NP_003505.1:p.Gly5Val NC_000006.12:27893135:C:A p.(Gly5Val) NC_000006.12:27893135:C:A p.(Gly5Val) NC_000006.12:27893135:C:A Identity +NM_152723.3:c.1103A>G NP_689936.1:p.Lys368Arg NC_000011.10:85685027:T:C p.(Lys368Arg) NC_000011.10:85685027:T:C p.(Lys368Arg) NC_000011.10:85685027:T:C Identity +NM_001381999.1:c.235T>C NP_001368928.1:p.Phe79Leu NC_000006.12:26225388:T:C p.(Phe79Leu) NC_000006.12:26225388:T:C p.(Phe79Leu) NC_000006.12:26225388:T:C Identity +NM_021057.2:c.485G>C NP_066401.2:p.Cys162Ser NC_000009.12:21201680:C:G p.(Cys162Ser) NC_000009.12:21201680:C:G p.(Cys162Ser) NC_000009.12:21201680:C:G Identity +NM_001308330.2:c.223G>A NP_001295259.1:p.Ala75Thr NC_000003.12:120954972:G:A p.(Ala75Thr) NC_000003.12:120954972:G:A p.(Ala75Thr) NC_000003.12:120954972:G:A Identity +NM_018310.4:c.919C>G NP_060780.2:p.Leu307Val NC_000008.11:37844830:G:C p.(Leu307Val) NC_000008.11:37844830:G:C p.(Leu307Val) NC_000008.11:37844830:G:C Identity +NM_002473.6:c.5242A>T NP_002464.1:p.Ile1748Phe NC_000022.11:36285689:T:A p.(Ile1748Phe) NC_000022.11:36285689:T:A p.(Ile1748Phe) NC_000022.11:36285689:T:A Identity +NM_001127493.3:c.79G>A NP_001120965.1:p.Val27Met NC_000004.12:113174472:G:A p.(Val27Met) NC_000004.12:113174472:G:A p.(Val27Met) NC_000004.12:113174472:G:A Identity +NM_001353210.3:c.457T>C NP_001340139.1:p.Cys153Arg NC_000018.10:49363197:A:G p.(Cys153Arg) NC_000018.10:49363197:A:G p.(Cys153Arg) NC_000018.10:49363197:A:G Identity +NM_001411010.1:c.3013C>T NP_001397939.1:p.Arg1005Cys NC_000014.9:31136631:G:A p.(Arg1005Cys) NC_000014.9:31136631:G:A p.(Arg1005Cys) NC_000014.9:31136631:G:A Identity +NM_001080488.2:c.85C>A NP_001073957.1:p.Arg29Ser NC_000019.10:1753746:C:A p.(Arg29Ser) NC_000019.10:1753746:C:A p.(Arg29Ser) NC_000019.10:1753746:C:A Identity +NM_001003940.2:c.71C>T NP_001003940.1:p.Thr24Ile NC_000015.10:40106015:G:A p.(Thr24Ile) NC_000015.10:40106015:G:A p.(Thr24Ile) NC_000015.10:40106015:G:A Identity +NM_004482.4:c.17G>A NP_004473.2:p.Arg6Gln NC_000002.12:165770683:C:T p.(Arg6Gln) NC_000002.12:165770683:C:T p.(Arg6Gln) NC_000002.12:165770683:C:T Identity +NM_176822.4:c.3095T>G NP_789792.1:p.Val1032Gly NC_000011.10:7070404:T:G p.(Val1032Gly) NC_000011.10:7070404:T:G p.(Val1032Gly) NC_000011.10:7070404:T:G Identity +NM_002718.5:c.1510A>G NP_002709.2:p.Ser504Gly NC_000003.12:136003007:A:G p.(Ser504Gly) NC_000003.12:136003007:A:G p.(Ser504Gly) NC_000003.12:136003007:A:G Identity +NM_001355016.2:c.1936C>T NP_001341945.1:p.Pro646Ser NC_000005.10:150123096:G:A p.(Pro646Ser) NC_000005.10:150123096:G:A p.(Pro646Ser) NC_000005.10:150123096:G:A Identity +NM_001032296.4:c.775C>G NP_001027467.2:p.Pro259Ala NC_000013.11:98466383:G:C p.(Pro259Ala) NC_000013.11:98466383:G:C p.(Pro259Ala) NC_000013.11:98466383:G:C Identity +NM_001413738.1:c.2078C>T NP_001400667.1:p.Thr693Ile NC_000012.12:8934302:C:T p.(Thr693Ile) NC_000012.12:8934302:C:T p.(Thr693Ile) NC_000012.12:8934302:C:T Identity +NM_004782.4:c.632T>C NP_004773.1:p.Met211Thr NC_000022.11:20887690:T:C p.(Met211Thr) NC_000022.11:20887690:T:C p.(Met211Thr) NC_000022.11:20887690:T:C Identity +NM_181701.4:c.1402A>T NP_859052.3:p.Arg468Trp NC_000009.12:136211410:T:A p.(Arg468Trp) NC_000009.12:136211410:T:A p.(Arg468Trp) NC_000009.12:136211410:T:A Identity +NM_018905.3:c.1330G>C NP_061728.1:p.Glu444Gln NC_000005.10:140796293:G:C p.(Glu444Gln) NC_000005.10:140796293:G:C p.(Glu444Gln) NC_000005.10:140796293:G:C Identity +NM_001005408.2:c.284T>C NP_001005408.1:p.Val95Ala NC_000017.11:7327882:A:G p.(Val95Ala) NC_000017.11:7327882:A:G p.(Val95Ala) NC_000017.11:7327882:A:G Identity +NM_001034954.3:c.976A>G NP_001030126.2:p.Ser326Gly NC_000010.11:95406126:T:C p.(Ser326Gly) NC_000010.11:95406126:T:C p.(Ser326Gly) NC_000010.11:95406126:T:C Identity +NM_001031836.3:c.1910T>C NP_001027006.2:p.Met637Thr NC_000008.11:36864421:T:C p.(Met637Thr) NC_000008.11:36864421:T:C p.(Met637Thr) NC_000008.11:36864421:T:C Identity +NM_000916.4:c.172G>T NP_000907.2:p.Ala58Ser NC_000003.12:8768015:C:A p.(Ala58Ser) NC_000003.12:8768015:C:A p.(Ala58Ser) NC_000003.12:8768015:C:A Identity +NM_000386.4:c.347G>A NP_000377.1:p.Ser116Asn NC_000017.11:30287921:C:T p.(Ser116Asn) NC_000017.11:30287921:C:T p.(Ser116Asn) NC_000017.11:30287921:C:T Identity +NM_153347.3:c.293T>G NP_699178.1:p.Leu98Arg NC_000011.10:18701578:T:G p.(Leu98Arg) NC_000011.10:18701578:T:G p.(Leu98Arg) NC_000011.10:18701578:T:G Identity +NM_001289975.1:c.4904C>T NP_001276904.1:p.Ser1635Phe NC_000002.12:159349131:G:A p.(Ser1635Phe) NC_000002.12:159349131:G:A p.(Ser1635Phe) NC_000002.12:159349131:G:A Identity +NM_173628.4:c.2008A>G NP_775899.3:p.Ile670Val NC_000017.11:78560762:T:C p.(Ile670Val) NC_000017.11:78560762:T:C p.(Ile670Val) NC_000017.11:78560762:T:C Identity +NM_181622.2:c.43C>T NP_853653.1:p.His15Tyr NC_000021.9:30425869:G:A p.(His15Tyr) NC_000021.9:30425869:G:A p.(His15Tyr) NC_000021.9:30425869:G:A Identity +NM_145168.3:c.788T>C NP_660151.2:p.Phe263Ser NC_000016.10:81999504:A:G p.(Phe263Ser) NC_000016.10:81999504:A:G p.(Phe263Ser) NC_000016.10:81999504:A:G Identity +NM_016247.4:c.2041C>T NP_057331.2:p.Pro681Ser NC_000003.12:101244289:G:A p.(Pro681Ser) NC_000003.12:101244289:G:A p.(Pro681Ser) NC_000003.12:101244289:G:A Identity +NM_001092.5:c.2011A>G NP_001083.2:p.Met671Val NC_000017.11:1010842:T:C p.(Met671Val) NC_000017.11:1010842:T:C p.(Met671Val) NC_000017.11:1010842:T:C Identity +NM_001318810.2:c.995A>G NP_001305739.1:p.Gln332Arg NC_000003.12:165189835:T:C p.(Gln332Arg) NC_000003.12:165189835:T:C p.(Gln332Arg) NC_000003.12:165189835:T:C Identity +NM_001282164.2:c.775G>C NP_001269093.1:p.Val259Leu NC_000012.12:132621102:G:C p.(Val259Leu) NC_000012.12:132621102:G:C p.(Val259Leu) NC_000012.12:132621102:G:C Identity +NM_001037984.3:c.2048C>T NP_001033073.1:p.Ala683Val NC_000017.11:81251509:G:A p.(Ala683Val) NC_000017.11:81251509:G:A p.(Ala683Val) NC_000017.11:81251509:G:A Identity +NM_002332.3:c.6182A>T NP_002323.2:p.Tyr2061Phe NC_000012.12:57184447:A:T p.(Tyr2061Phe) NC_000012.12:57184447:A:T p.(Tyr2061Phe) NC_000012.12:57184447:A:T Identity +NM_001014433.3:c.407C>T NP_001014433.2:p.Pro136Leu NC_000006.12:33416713:G:A p.(Pro136Leu) NC_000006.12:33416713:G:A p.(Pro136Leu) NC_000006.12:33416713:G:A Identity +NM_001324371.2:c.1223G>A NP_001311300.1:p.Gly408Asp NC_000016.10:20431235:G:A p.(Gly408Asp) NC_000016.10:20431235:G:A p.(Gly408Asp) NC_000016.10:20431235:G:A Identity +NM_001001968.1:c.547G>C NP_001001968.1:p.Asp183His NC_000014.9:20641144:C:G p.(Asp183His) NC_000014.9:20641144:C:G p.(Asp183His) NC_000014.9:20641144:C:G Identity +NM_000443.4:c.32C>G NP_000434.1:p.Ala11Gly NC_000007.14:87475433:G:C p.(Ala11Gly) NC_000007.14:87475433:G:C p.(Ala11Gly) NC_000007.14:87475433:G:C Identity +NM_080614.2:c.342C>G NP_542181.1:p.Ile114Met NC_000020.11:45787851:G:C p.(Ile114Met) NC_000020.11:45787851:G:C p.(Ile114Met) NC_000020.11:45787851:G:C Identity +NM_001392028.1:c.1252A>G NP_001378957.1:p.Lys418Glu NC_000016.10:48128721:T:C p.(Lys418Glu) NC_000016.10:48128721:T:C p.(Lys418Glu) NC_000016.10:48128721:T:C Identity +NM_001139514.1:c.1548G>T NP_001132986.1:p.Leu516Phe NC_000023.11:86814736:G:T p.(Leu516Phe) NC_000023.11:86814736:G:T p.(Leu516Phe) NC_000023.11:86814736:G:T Identity +NM_001375363.1:c.23G>A NP_001362292.1:p.Arg8Gln NC_000012.12:1754365:G:A p.(Arg8Gln) NC_000012.12:1754365:G:A p.(Arg8Gln) NC_000012.12:1754365:G:A Identity +NM_001156.5:c.133G>A NP_001147.1:p.Ala45Thr NC_000010.11:73398306:C:T p.(Ala45Thr) NC_000010.11:73398306:C:T p.(Ala45Thr) NC_000010.11:73398306:C:T Identity +NM_022766.6:c.760G>A NP_073603.2:p.Ala254Thr NC_000022.11:46701665:C:T p.(Ala254Thr) NC_000022.11:46701665:C:T p.(Ala254Thr) NC_000022.11:46701665:C:T Identity +NM_032178.3:c.919G>T NP_115554.2:p.Asp307Tyr NC_000016.10:68301285:C:A p.(Asp307Tyr) NC_000016.10:68301285:C:A p.(Asp307Tyr) NC_000016.10:68301285:C:A Identity +NM_001199873.1:c.758A>G NP_001186802.1:p.Asn253Ser NC_000001.11:161173649:T:C p.(Asn253Ser) NC_000001.11:161173649:T:C p.(Asn253Ser) NC_000001.11:161173649:T:C Identity +NM_144999.4:c.143G>A NP_659436.1:p.Arg48Lys NC_000017.11:82023785:G:A p.(Arg48Lys) NC_000017.11:82023785:G:A p.(Arg48Lys) NC_000017.11:82023785:G:A Identity +NM_183374.3:c.1313A>G NP_899230.2:p.Glu438Gly NC_000010.11:93068440:A:G p.(Glu438Gly) NC_000010.11:93068440:A:G p.(Glu438Gly) NC_000010.11:93068440:A:G Identity +NM_001101648.2:c.3261C>A NP_001095118.1:p.Asp1087Glu NC_000007.14:44517232:G:T p.(Asp1087Glu) NC_000007.14:44517232:G:T p.(Asp1087Glu) NC_000007.14:44517232:G:T Identity +NM_016312.3:c.572C>T NP_057396.1:p.Pro191Leu NC_000012.12:14794685:G:A p.(Pro191Leu) NC_000012.12:14794685:G:A p.(Pro191Leu) NC_000012.12:14794685:G:A Identity +NM_001135105.2:c.65T>A NP_001128577.1:p.Val22Asp NC_000006.12:39322475:A:T p.(Val22Asp) NC_000006.12:39322475:A:T p.(Val22Asp) NC_000006.12:39322475:A:T Identity +NM_000350.3:c.4090C>A NP_000341.2:p.Gln1364Lys NC_000001.11:94031815:G:T p.(Gln1364Lys) NC_000001.11:94031815:G:T p.(Gln1364Lys) NC_000001.11:94031815:G:T Identity +NM_001318819.2:c.2683A>G NP_001305748.1:p.Lys895Glu NC_000006.12:42864888:A:G p.(Lys895Glu) NC_000006.12:42864888:A:G p.(Lys895Glu) NC_000006.12:42864888:A:G Identity +NM_001376262.1:c.2905G>A NP_001363191.1:p.Glu969Lys NC_000011.10:64651267:C:T p.(Glu969Lys) NC_000011.10:64651267:C:T p.(Glu969Lys) NC_000011.10:64651267:C:T Identity +NM_001199741.2:c.349C>T NP_001186670.1:p.Arg117Cys NC_000001.11:67687726:C:T p.(Arg117Cys) NC_000001.11:67687726:C:T p.(Arg117Cys) NC_000001.11:67687726:C:T Identity +NM_001253387.2:c.424G>A NP_001240316.1:p.Glu142Lys NC_000003.12:340831:G:A p.(Glu142Lys) NC_000003.12:340831:G:A p.(Glu142Lys) NC_000003.12:340831:G:A Identity +NM_001005408.2:c.3408T>A NP_001005408.1:p.His1136Gln NC_000017.11:7320869:A:T p.(His1136Gln) NC_000017.11:7320869:A:T p.(His1136Gln) NC_000017.11:7320869:A:T Identity +NM_001290268.2:c.475G>A NP_001277197.1:p.Gly159Ser NC_000020.11:50609673:C:T p.(Gly159Ser) NC_000020.11:50609673:C:T p.(Gly159Ser) NC_000020.11:50609673:C:T Identity +NM_006183.5:c.412G>C NP_006174.1:p.Glu138Gln NC_000012.12:85882273:G:C p.(Glu138Gln) NC_000012.12:85882273:G:C p.(Glu138Gln) NC_000012.12:85882273:G:C Identity +NM_001258290.2:c.170C>A NP_001245219.1:p.Thr57Asn NC_000016.10:31149174:G:T p.(Thr57Asn) NC_000016.10:31149174:G:T p.(Thr57Asn) NC_000016.10:31149174:G:T Identity +NM_001410965.1:c.3637A>G NP_001397894.1:p.Thr1213Ala NC_000011.10:33656077:A:G p.(Thr1213Ala) NC_000011.10:33656077:A:G p.(Thr1213Ala) NC_000011.10:33656077:A:G Identity +NM_153757.4:c.33G>T NP_715638.1:p.Glu11Asp NC_000004.12:88697721:C:A p.(Glu11Asp) NC_000004.12:88697721:C:A p.(Glu11Asp) NC_000004.12:88697721:C:A Identity +NM_001291285.3:c.12543T>A NP_001278214.1:p.Asp4181Glu NC_000004.12:125479803:T:A p.(Asp4181Glu) NC_000004.12:125479803:T:A p.(Asp4181Glu) NC_000004.12:125479803:T:A Identity +NM_001897.5:c.824A>G NP_001888.2:p.Asn275Ser NC_000015.10:75690240:T:C p.(Asn275Ser) NC_000015.10:75690240:T:C p.(Asn275Ser) NC_000015.10:75690240:T:C Identity +NM_024490.4:c.514C>T NP_077816.1:p.Arg172Cys NC_000015.10:25781158:G:A p.(Arg172Cys) NC_000015.10:25781158:G:A p.(Arg172Cys) NC_000015.10:25781158:G:A Identity +NM_001142552.2:c.2306C>T NP_001136024.1:p.Pro769Leu NC_000004.12:154366379:G:A p.(Pro769Leu) NC_000004.12:154366379:G:A p.(Pro769Leu) NC_000004.12:154366379:G:A Identity +NM_001142800.2:c.7630C>T NP_001136272.1:p.Leu2544Phe NC_000006.12:63788197:G:A p.(Leu2544Phe) NC_000006.12:63788197:G:A p.(Leu2544Phe) NC_000006.12:63788197:G:A Identity +NM_001243900.3:c.2261A>G NP_001230829.1:p.Gln754Arg NC_000002.12:241239931:T:C p.(Gln754Arg) NC_000002.12:241239931:T:C p.(Gln754Arg) NC_000002.12:241239931:T:C Identity +NM_005469.4:c.173A>T NP_005460.2:p.Gln58Leu NC_000020.11:45855247:T:A p.(Gln58Leu) NC_000020.11:45855247:T:A p.(Gln58Leu) NC_000020.11:45855247:T:A Identity +NM_001144060.2:c.169C>G NP_001137532.1:p.Leu57Val NC_000006.12:138496260:G:C p.(Leu57Val) NC_000006.12:138496260:G:C p.(Leu57Val) NC_000006.12:138496260:G:C Identity +NM_001256486.2:c.9320C>T NP_001243415.1:p.Ala3107Val NC_000003.12:121669212:G:A p.(Ala3107Val) NC_000003.12:121669212:G:A p.(Ala3107Val) NC_000003.12:121669212:G:A Identity +NM_145294.5:c.3739C>T NP_660337.3:p.Arg1247Cys NC_000016.10:661661:C:T p.(Arg1247Cys) NC_000016.10:661661:C:T p.(Arg1247Cys) NC_000016.10:661661:C:T Identity +NM_006244.4:c.1478G>A NP_006235.1:p.Ser493Asn NC_000011.10:64933827:G:A p.(Ser493Asn) NC_000011.10:64933827:G:A p.(Ser493Asn) NC_000011.10:64933827:G:A Identity +NM_001080461.3:c.773G>A NP_001073930.1:p.Gly258Glu NC_000007.14:1236153:G:A p.(Gly258Glu) NC_000007.14:1236153:G:A p.(Gly258Glu) NC_000007.14:1236153:G:A Identity +NM_182699.4:c.1355A>G NP_874358.2:p.Glu452Gly NC_000023.11:23001411:A:G p.(Glu452Gly) NC_000023.11:23001411:A:G p.(Glu452Gly) NC_000023.11:23001411:A:G Identity +NM_001322253.2:c.3977A>G NP_001309182.1:p.Tyr1326Cys NC_000003.12:51662992:A:G p.(Tyr1326Cys) NC_000003.12:51662992:A:G p.(Tyr1326Cys) NC_000003.12:51662992:A:G Identity +NM_001277.3:c.720G>C NP_001268.2:p.Met240Ile NC_000011.10:68070767:C:G p.(Met240Ile) NC_000011.10:68070767:C:G p.(Met240Ile) NC_000011.10:68070767:C:G Identity +NM_001102608.3:c.5425G>T NP_001096078.1:p.Ala1809Ser NC_000003.12:130649253:G:T p.(Ala1809Ser) NC_000003.12:130649253:G:T p.(Ala1809Ser) NC_000003.12:130649253:G:T Identity +NM_001113546.2:c.1414A>G NP_001107018.1:p.Asn472Asp NC_000012.12:50177932:T:C p.(Asn472Asp) NC_000012.12:50177932:T:C p.(Asn472Asp) NC_000012.12:50177932:T:C Identity +NM_001284194.2:c.610C>G NP_001271123.1:p.Arg204Gly NC_000010.11:73772942:C:G p.(Arg204Gly) NC_000010.11:73772942:C:G p.(Arg204Gly) NC_000010.11:73772942:C:G Identity +NM_001302378.2:c.2134G>A NP_001289307.1:p.Glu712Lys NC_000003.12:15074002:C:T p.(Glu712Lys) NC_000003.12:15074002:C:T p.(Glu712Lys) NC_000003.12:15074002:C:T Identity +NM_001288729.2:c.2875T>A NP_001275658.1:p.Cys959Ser NC_000009.12:87703031:T:A p.(Cys959Ser) NC_000009.12:87703031:T:A p.(Cys959Ser) NC_000009.12:87703031:T:A Identity +NM_022453.3:c.22G>C NP_071898.2:p.Ala8Pro NC_000002.12:218671948:C:G p.(Ala8Pro) NC_000002.12:218671948:C:G p.(Ala8Pro) NC_000002.12:218671948:C:G Identity +NM_001322246.3:c.92G>A NP_001309175.1:p.Arg31His NC_000004.12:61587262:G:A p.(Arg31His) NC_000004.12:61587262:G:A p.(Arg31His) NC_000004.12:61587262:G:A Identity +NM_020358.2:c.894T>G NP_065091.1:p.Asn298Lys NC_000011.10:89798594:A:C p.(Asn298Lys) NC_000011.10:89798594:A:C p.(Asn298Lys) NC_000011.10:89798594:A:C Identity +NM_001367447.1:c.4878C>A NP_001354376.1:p.Asp1626Glu NC_000010.11:24585380:G:T p.(Asp1626Glu) NC_000010.11:24585380:G:T p.(Asp1626Glu) NC_000010.11:24585380:G:T Identity +NM_015073.3:c.1675C>A NP_055888.1:p.Leu559Met NC_000019.10:38099970:C:A p.(Leu559Met) NC_000019.10:38099970:C:A p.(Leu559Met) NC_000019.10:38099970:C:A Identity +NM_001135752.1:c.1886T>C NP_001129224.1:p.Val629Ala NC_000010.11:73134730:A:G p.(Val629Ala) NC_000010.11:73134730:A:G p.(Val629Ala) NC_000010.11:73134730:A:G Identity +NM_001303029.2:c.367C>G NP_001289958.1:p.Pro123Ala NC_000011.10:396822:C:G p.(Pro123Ala) NC_000011.10:396822:C:G p.(Pro123Ala) NC_000011.10:396822:C:G Identity +NM_018036.7:c.3948G>T NP_060506.6:p.Glu1316Asp NC_000014.9:96311583:C:A p.(Glu1316Asp) NC_000014.9:96311583:C:A p.(Glu1316Asp) NC_000014.9:96311583:C:A Identity +NM_001039753.4:c.3337C>T NP_001034842.2:p.Leu1113Phe NC_000002.12:54903429:C:T p.(Leu1113Phe) NC_000002.12:54903429:C:T p.(Leu1113Phe) NC_000002.12:54903429:C:T Identity +NM_014353.5:c.193A>C NP_055168.2:p.Lys65Gln NC_000016.10:2148975:A:C p.(Lys65Gln) NC_000016.10:2148975:A:C p.(Lys65Gln) NC_000016.10:2148975:A:C Identity +NM_001375890.1:c.925C>G NP_001362819.1:p.Gln309Glu NC_000009.12:120772830:G:C p.(Gln309Glu) NC_000009.12:120772830:G:C p.(Gln309Glu) NC_000009.12:120772830:G:C Identity +NM_001145114.1:c.539T>C NP_001138586.1:p.Leu180Pro NC_000010.11:97390453:A:G p.(Leu180Pro) NC_000010.11:97390453:A:G p.(Leu180Pro) NC_000010.11:97390453:A:G Identity +NM_001201380.3:c.976C>T NP_001188309.2:p.Arg326Cys NC_000009.12:41996299:G:A p.(Arg326Cys) NC_000009.12:41996299:G:A p.(Arg326Cys) NC_000009.12:41996299:G:A Identity +NM_001398.3:c.77G>A NP_001389.2:p.Gly26Glu NC_000019.10:38831491:C:T p.(Gly26Glu) NC_000019.10:38831491:C:T p.(Gly26Glu) NC_000019.10:38831491:C:T Identity +NM_001271885.2:c.527A>C NP_001258814.1:p.Lys176Thr NC_000015.10:67203563:T:G p.(Lys176Thr) NC_000015.10:67203563:T:G p.(Lys176Thr) NC_000015.10:67203563:T:G Identity +NM_001166244.1:c.143C>G NP_001159716.1:p.Pro48Arg NC_000010.11:99235659:G:C p.(Pro48Arg) NC_000010.11:99235659:G:C p.(Pro48Arg) NC_000010.11:99235659:G:C Identity +NM_004077.3:c.1319G>A NP_004068.2:p.Arg440Gln NC_000012.12:56273165:C:T p.(Arg440Gln) NC_000012.12:56273165:C:T p.(Arg440Gln) NC_000012.12:56273165:C:T Identity +NM_001282962.2:c.1237T>C NP_001269891.1:p.Tyr413His NC_000002.12:233841380:A:G p.(Tyr413His) NC_000002.12:233841380:A:G p.(Tyr413His) NC_000002.12:233841380:A:G Identity +NM_001244949.2:c.1849C>G NP_001231878.1:p.Arg617Gly NC_000010.11:112159963:G:C p.(Arg617Gly) NC_000010.11:112159963:G:C p.(Arg617Gly) NC_000010.11:112159963:G:C Identity +NM_001363910.2:c.3172A>G NP_001350839.1:p.Ile1058Val NC_000002.12:209695353:A:G p.(Ile1058Val) NC_000002.12:209695353:A:G p.(Ile1058Val) NC_000002.12:209695353:A:G Identity +NM_016427.3:c.566C>T NP_057511.2:p.Pro189Leu NC_000018.10:47034698:G:A p.(Pro189Leu) NC_000018.10:47034698:G:A p.(Pro189Leu) NC_000018.10:47034698:G:A Identity +NM_001276326.2:c.1498G>T NP_001263255.1:p.Ala500Ser NC_000011.10:64601488:G:T p.(Ala500Ser) NC_000011.10:64601488:G:T p.(Ala500Ser) NC_000011.10:64601488:G:T Identity +NM_001042533.3:c.1073C>G NP_001035998.1:p.Pro358Arg NC_000003.12:97947436:G:C p.(Pro358Arg) NC_000003.12:97947436:G:C p.(Pro358Arg) NC_000003.12:97947436:G:C Identity +NM_145290.4:c.2449A>G NP_660333.2:p.Thr817Ala NC_000004.12:22401462:T:C p.(Thr817Ala) NC_000004.12:22401462:T:C p.(Thr817Ala) NC_000004.12:22401462:T:C Identity +NM_207317.3:c.875G>T NP_997200.1:p.Arg292Leu NC_000005.10:122152864:G:T p.(Arg292Leu) NC_000005.10:122152864:G:T p.(Arg292Leu) NC_000005.10:122152864:G:T Identity +NM_016247.4:c.2503G>A NP_057331.2:p.Val835Ile NC_000003.12:101243827:C:T p.(Val835Ile) NC_000003.12:101243827:C:T p.(Val835Ile) NC_000003.12:101243827:C:T Identity +NM_001100122.2:c.3581G>A NP_001093592.1:p.Cys1194Tyr NC_000019.10:1108568:C:T p.(Cys1194Tyr) NC_000019.10:1108568:C:T p.(Cys1194Tyr) NC_000019.10:1108568:C:T Identity +NM_017919.3:c.656A>G NP_060389.2:p.Lys219Arg NC_000009.12:99967725:A:G p.(Lys219Arg) NC_000009.12:99967725:A:G p.(Lys219Arg) NC_000009.12:99967725:A:G Identity +NM_000704.3:c.1456C>A NP_000695.2:p.Pro486Thr NC_000019.10:35558405:G:T p.(Pro486Thr) NC_000019.10:35558405:G:T p.(Pro486Thr) NC_000019.10:35558405:G:T Identity +NM_001308185.2:c.491C>T NP_001295114.1:p.Thr164Ile NC_000003.12:157153153:G:A p.(Thr164Ile) NC_000003.12:157153153:G:A p.(Thr164Ile) NC_000003.12:157153153:G:A Identity +NM_024746.4:c.796C>T NP_079022.2:p.Pro266Ser NC_000001.11:222543714:G:A p.(Pro266Ser) NC_000001.11:222543714:G:A p.(Pro266Ser) NC_000001.11:222543714:G:A Identity +NM_001258448.2:c.967C>T NP_001245377.1:p.Leu323Phe NC_000005.10:137906425:C:T p.(Leu323Phe) NC_000005.10:137906425:C:T p.(Leu323Phe) NC_000005.10:137906425:C:T Identity +NM_001317895.2:c.2962G>C NP_001304824.1:p.Asp988His NC_000008.11:143977635:C:G p.(Asp988His) NC_000008.11:143977635:C:G p.(Asp988His) NC_000008.11:143977635:C:G Identity +NM_001321291.2:c.841A>G NP_001308220.1:p.Ile281Val NC_000017.11:78819999:T:C p.(Ile281Val) NC_000017.11:78819999:T:C p.(Ile281Val) NC_000017.11:78819999:T:C Identity +NM_001039573.3:c.1957G>T NP_001034662.3:p.Asp653Tyr NC_000017.11:77213406:G:T p.(Asp653Tyr) NC_000017.11:77213406:G:T p.(Asp653Tyr) NC_000017.11:77213406:G:T Identity +NM_198722.3:c.796C>T NP_942015.1:p.His266Tyr NC_000003.12:49718669:G:A p.(His266Tyr) NC_000003.12:49718669:G:A p.(His266Tyr) NC_000003.12:49718669:G:A Identity +NM_203394.3:c.1057G>A NP_976328.2:p.Val353Ile NC_000012.12:77043130:C:T p.(Val353Ile) NC_000012.12:77043130:C:T p.(Val353Ile) NC_000012.12:77043130:C:T Identity +NM_001134456.2:c.406C>G NP_001127928.1:p.Pro136Ala NC_000003.12:101801546:C:G p.(Pro136Ala) NC_000003.12:101801546:C:G p.(Pro136Ala) NC_000003.12:101801546:C:G Identity +NM_020777.3:c.2942G>A NP_065828.2:p.Arg981Lys NC_000004.12:7728421:G:A p.(Arg981Lys) NC_000004.12:7728421:G:A p.(Arg981Lys) NC_000004.12:7728421:G:A Identity +NM_001366122.1:c.2633C>T NP_001353051.1:p.Pro878Leu NC_000007.14:128886931:G:A p.(Pro878Leu) NC_000007.14:128886931:G:A p.(Pro878Leu) NC_000007.14:128886931:G:A Identity +NM_001318933.2:c.1066G>A NP_001305862.1:p.Val356Ile NC_000017.11:44776946:G:A p.(Val356Ile) NC_000017.11:44776946:G:A p.(Val356Ile) NC_000017.11:44776946:G:A Identity +NM_002470.4:c.5021T>C NP_002461.2:p.Ile1674Thr NC_000017.11:10631951:A:G p.(Ile1674Thr) NC_000017.11:10631951:A:G p.(Ile1674Thr) NC_000017.11:10631951:A:G Identity +NM_152404.4:c.1346T>C NP_689617.3:p.Leu449Pro NC_000005.10:35954427:A:G p.(Leu449Pro) NC_000005.10:35954427:A:G p.(Leu449Pro) NC_000005.10:35954427:A:G Identity +NM_001394547.1:c.2558T>C NP_001381476.1:p.Met853Thr NC_000015.10:62712000:T:C p.(Met853Thr) NC_000015.10:62712000:T:C p.(Met853Thr) NC_000015.10:62712000:T:C Identity +NM_014681.6:c.2107G>A NP_055496.2:p.Ala703Thr NC_000019.10:47375507:G:A p.(Ala703Thr) NC_000019.10:47375507:G:A p.(Ala703Thr) NC_000019.10:47375507:G:A Identity +NM_001113523.3:c.811C>T NP_001106995.1:p.Pro271Ser NC_000003.12:122615817:C:T p.(Pro271Ser) NC_000003.12:122615817:C:T p.(Pro271Ser) NC_000003.12:122615817:C:T Identity +NM_001135050.2:c.3395C>T NP_001128522.1:p.Thr1132Ile NC_000001.11:159927489:G:A p.(Thr1132Ile) NC_000001.11:159927489:G:A p.(Thr1132Ile) NC_000001.11:159927489:G:A Identity +NM_005822.4:c.52G>A NP_005813.2:p.Val18Met NC_000006.12:46325427:C:T p.(Val18Met) NC_000006.12:46325427:C:T p.(Val18Met) NC_000006.12:46325427:C:T Identity +NM_015103.3:c.1829T>C NP_055918.3:p.Ile610Thr NC_000003.12:129585973:A:G p.(Ile610Thr) NC_000003.12:129585973:A:G p.(Ile610Thr) NC_000003.12:129585973:A:G Identity +NM_001198910.2:c.1298C>T NP_001185839.1:p.Ala433Val NC_000013.11:36170720:G:A p.(Ala433Val) NC_000013.11:36170720:G:A p.(Ala433Val) NC_000013.11:36170720:G:A Identity +NM_014709.4:c.5327A>C NP_055524.3:p.Asp1776Ala NC_000002.12:61278270:T:G p.(Asp1776Ala) NC_000002.12:61278270:T:G p.(Asp1776Ala) NC_000002.12:61278270:T:G Identity +NM_001349828.2:c.343A>C NP_001336757.1:p.Ser115Arg NC_000002.12:219218330:T:G p.(Ser115Arg) NC_000002.12:219218330:T:G p.(Ser115Arg) NC_000002.12:219218330:T:G Identity +NM_024769.5:c.667G>C NP_079045.1:p.Val223Leu NC_000011.10:123083096:C:G p.(Val223Leu) NC_000011.10:123083096:C:G p.(Val223Leu) NC_000011.10:123083096:C:G Identity +NM_001291088.2:c.8561C>T NP_001278017.1:p.Pro2854Leu NC_000019.10:37885109:G:A p.(Pro2854Leu) NC_000019.10:37885109:G:A p.(Pro2854Leu) NC_000019.10:37885109:G:A Identity +NM_001194.4:c.1745A>T NP_001185.3:p.Tyr582Phe NC_000019.10:613407:A:T p.(Tyr582Phe) NC_000019.10:613407:A:T p.(Tyr582Phe) NC_000019.10:613407:A:T Identity +NM_001134440.2:c.220G>C NP_001127912.1:p.Glu74Gln NC_000003.12:44721036:G:C p.(Glu74Gln) NC_000003.12:44721036:G:C p.(Glu74Gln) NC_000003.12:44721036:G:C Identity +NM_001321153.2:c.1856T>C NP_001308082.1:p.Ile619Thr NC_000003.12:38093703:T:C p.(Ile619Thr) NC_000003.12:38093703:T:C p.(Ile619Thr) NC_000003.12:38093703:T:C Identity +NM_001080395.3:c.3092G>A NP_001073864.2:p.Gly1031Glu NC_000017.11:81120843:C:T p.(Gly1031Glu) NC_000017.11:81120843:C:T p.(Gly1031Glu) NC_000017.11:81120843:C:T Identity +NM_001279349.2:c.640G>A NP_001266278.1:p.Asp214Asn NC_000009.12:133407065:C:T p.(Asp214Asn) NC_000009.12:133407065:C:T p.(Asp214Asn) NC_000009.12:133407065:C:T Identity +NM_001034850.3:c.469A>G NP_001030022.1:p.Ile157Val NC_000005.10:16483461:T:C p.(Ile157Val) NC_000005.10:16483461:T:C p.(Ile157Val) NC_000005.10:16483461:T:C Identity +NM_005545.4:c.250A>T NP_005536.1:p.Asn84Tyr NC_000015.10:74175107:A:T p.(Asn84Tyr) NC_000015.10:74175107:A:T p.(Asn84Tyr) NC_000015.10:74175107:A:T Identity +NM_005560.6:c.5844C>G NP_005551.3:p.Cys1948Trp NC_000020.11:62323780:G:C p.(Cys1948Trp) NC_000020.11:62323780:G:C p.(Cys1948Trp) NC_000020.11:62323780:G:C Identity +NM_153366.4:c.10039C>G NP_699197.3:p.His3347Asp NC_000009.12:110387305:G:C p.(His3347Asp) NC_000009.12:110387305:G:C p.(His3347Asp) NC_000009.12:110387305:G:C Identity +NM_001286696.2:c.1118C>G NP_001273625.1:p.Ala373Gly NC_000009.12:127444889:C:G p.(Ala373Gly) NC_000009.12:127444889:C:G p.(Ala373Gly) NC_000009.12:127444889:C:G Identity +NM_001365999.1:c.7368G>C NP_001352928.1:p.Leu2456Phe NC_000001.11:43441236:G:C p.(Leu2456Phe) NC_000001.11:43441236:G:C p.(Leu2456Phe) NC_000001.11:43441236:G:C Identity +NM_000132.4:c.2336C>G NP_000123.1:p.Thr779Arg NC_000023.11:154931453:G:C p.(Thr779Arg) NC_000023.11:154931453:G:C p.(Thr779Arg) NC_000023.11:154931453:G:C Identity +NM_003756.3:c.50C>A NP_003747.1:p.Ser17Tyr NC_000008.11:116755747:G:T p.(Ser17Tyr) NC_000008.11:116755747:G:T p.(Ser17Tyr) NC_000008.11:116755747:G:T Identity +NM_001127617.2:c.1034C>T NP_001121089.1:p.Pro345Leu NC_000016.10:30070150:C:T p.(Pro345Leu) NC_000016.10:30070150:C:T p.(Pro345Leu) NC_000016.10:30070150:C:T Identity +NM_003959.3:c.3116C>T NP_003950.1:p.Pro1039Leu NC_000012.12:122861470:C:T p.(Pro1039Leu) NC_000012.12:122861470:C:T p.(Pro1039Leu) NC_000012.12:122861470:C:T Identity +NM_001144996.2:c.2847C>G NP_001138468.1:p.Asn949Lys NC_000012.12:55692852:G:C p.(Asn949Lys) NC_000012.12:55692852:G:C p.(Asn949Lys) NC_000012.12:55692852:G:C Identity +NM_001198815.1:c.4076A>G NP_001185744.1:p.Tyr1359Cys NC_000006.12:31029506:A:G p.(Tyr1359Cys) NC_000006.12:31029506:A:G p.(Tyr1359Cys) NC_000006.12:31029506:A:G Identity +NM_001100875.3:c.1547T>C NP_001094345.1:p.Ile516Thr NC_000017.11:62736320:A:G p.(Ile516Thr) NC_000017.11:62736320:A:G p.(Ile516Thr) NC_000017.11:62736320:A:G Identity +NM_001040454.1:c.1473C>A NP_001035544.1:p.His491Gln NC_000003.12:48629704:G:T p.(His491Gln) NC_000003.12:48629704:G:T p.(His491Gln) NC_000003.12:48629704:G:T Identity +NM_001410864.1:c.1138C>T NP_001397793.1:p.Arg380Trp NC_000004.12:183253940:C:T p.(Arg380Trp) NC_000004.12:183253940:C:T p.(Arg380Trp) NC_000004.12:183253940:C:T Identity +NM_001077594.2:c.1240C>A NP_001071062.1:p.Leu414Met NC_000014.9:103104344:C:A p.(Leu414Met) NC_000014.9:103104344:C:A p.(Leu414Met) NC_000014.9:103104344:C:A Identity +NM_001286242.2:c.4110T>G NP_001273171.1:p.Phe1370Leu NC_000016.10:27481164:A:C p.(Phe1370Leu) NC_000016.10:27481164:A:C p.(Phe1370Leu) NC_000016.10:27481164:A:C Identity +NM_001286277.2:c.1067G>A NP_001273206.1:p.Arg356His NC_000013.11:112547690:C:T p.(Arg356His) NC_000013.11:112547690:C:T p.(Arg356His) NC_000013.11:112547690:C:T Identity +NM_001319225.2:c.551C>T NP_001306154.1:p.Ala184Val NC_000001.11:12572745:G:A p.(Ala184Val) NC_000001.11:12572745:G:A p.(Ala184Val) NC_000001.11:12572745:G:A Identity +NM_001206999.2:c.6149C>A NP_001193928.1:p.Ala2050Glu NC_000012.12:119690187:G:T p.(Ala2050Glu) NC_000012.12:119690187:G:T p.(Ala2050Glu) NC_000012.12:119690187:G:T Identity +NM_001386735.1:c.727G>C NP_001373664.1:p.Asp243His NC_000016.10:72959418:C:G p.(Asp243His) NC_000016.10:72959418:C:G p.(Asp243His) NC_000016.10:72959418:C:G Identity +NM_007214.5:c.1867A>G NP_009145.1:p.Lys623Glu NC_000006.12:107881216:T:C p.(Lys623Glu) NC_000006.12:107881216:T:C p.(Lys623Glu) NC_000006.12:107881216:T:C Identity +NM_001258040.3:c.524G>A NP_001244969.1:p.Arg175His NC_000005.10:140677739:C:T p.(Arg175His) NC_000005.10:140677739:C:T p.(Arg175His) NC_000005.10:140677739:C:T Identity +NM_002686.4:c.211T>G NP_002677.1:p.Ser71Ala NC_000017.11:39669636:T:G p.(Ser71Ala) NC_000017.11:39669636:T:G p.(Ser71Ala) NC_000017.11:39669636:T:G Identity +NM_001081002.1:c.401A>C NP_001074471.1:p.Asn134Thr NC_000014.9:76836294:A:C ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found ERR:AlignmentMapper(tx_ac=NM_001081002.1, alt_ac=NM_001081002.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001081002.1, alt_ac=NM_001081002.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001081002.1 not found +NM_001144060.2:c.903G>A NP_001137532.1:p.Met301Ile NC_000006.12:138433441:C:T p.(Met301Ile) NC_000006.12:138433441:C:T p.(Met301Ile) NC_000006.12:138433441:C:T Identity +NM_014640.5:c.1133G>A NP_055455.3:p.Arg378Gln NC_000002.12:218738808:G:A p.(Arg378Gln) NC_000002.12:218738808:G:A p.(Arg378Gln) NC_000002.12:218738808:G:A Identity +NM_001144772.1:c.221A>C NP_001138244.1:p.His74Pro NC_000008.11:58643004:T:G p.(His74Pro) NC_000008.11:58643004:T:G p.(His74Pro) NC_000008.11:58643004:T:G Identity +NM_001201536.1:c.85C>G NP_001188465.1:p.His29Asp NC_000001.11:222588478:G:C p.(His29Asp) NC_000001.11:222588478:G:C p.(His29Asp) NC_000001.11:222588478:G:C Identity +NM_005406.3:c.3847T>A NP_005397.1:p.Cys1283Ser NC_000018.10:20954788:A:T p.(Cys1283Ser) NC_000018.10:20954788:A:T p.(Cys1283Ser) NC_000018.10:20954788:A:T Identity +NM_005372.1:c.299G>A NP_005363.1:p.Arg100Gln NC_000008.11:56113683:C:T p.(Arg100Gln) NC_000008.11:56113683:C:T p.(Arg100Gln) NC_000008.11:56113683:C:T Identity +NM_001363551.2:c.265T>G NP_001350480.1:p.Cys89Gly NC_000016.10:68249426:T:G p.(Cys89Gly) NC_000016.10:68249426:T:G p.(Cys89Gly) NC_000016.10:68249426:T:G Identity +NM_144646.4:c.8A>G NP_653247.1:p.Asn3Ser NC_000004.12:70666482:T:C p.(Asn3Ser) NC_000004.12:70666482:T:C p.(Asn3Ser) NC_000004.12:70666482:T:C Identity +NM_001276418.2:c.528T>A NP_001263347.1:p.His176Gln NC_000009.12:136477087:A:T p.(His176Gln) NC_000009.12:136477087:A:T p.(His176Gln) NC_000009.12:136477087:A:T Identity +NM_001393552.1:c.1874C>G NP_001380481.1:p.Ala625Gly NC_000019.10:4217006:C:G p.(Ala625Gly) NC_000019.10:4217006:C:G p.(Ala625Gly) NC_000019.10:4217006:C:G Identity +NM_005545.4:c.167G>A NP_005536.1:p.Ser56Asn NC_000015.10:74175024:G:A p.(Ser56Asn) NC_000015.10:74175024:G:A p.(Ser56Asn) NC_000015.10:74175024:G:A Identity +NM_001366845.3:c.880A>G NP_001353774.1:p.Asn294Asp NC_000015.10:42451391:T:C p.(Asn294Asp) NC_000015.10:42451391:T:C p.(Asn294Asp) NC_000015.10:42451391:T:C Identity +NM_001197051.2:c.1463G>T NP_001183980.1:p.Gly488Val NC_000011.10:58617458:G:T p.(Gly488Val) NC_000011.10:58617458:G:T p.(Gly488Val) NC_000011.10:58617458:G:T Identity +NM_001160328.2:c.105G>C NP_001153800.1:p.Glu35Asp NC_000019.10:50637306:C:G p.(Glu35Asp) NC_000019.10:50637306:C:G p.(Glu35Asp) NC_000019.10:50637306:C:G Identity +NM_020713.3:c.2551C>T NP_065764.1:p.Arg851Trp NC_000020.11:63960015:G:A p.(Arg851Trp) NC_000020.11:63960015:G:A p.(Arg851Trp) NC_000020.11:63960015:G:A Identity +NM_001004456.2:c.821C>T NP_001004456.1:p.Ser274Phe NC_000019.10:9094064:C:T p.(Ser274Phe) NC_000019.10:9094064:C:T p.(Ser274Phe) NC_000019.10:9094064:C:T Identity +NM_000296.4:c.3278A>G NP_000287.4:p.His1093Arg NC_000016.10:2112356:T:C p.(His1093Arg) NC_000016.10:2112356:T:C p.(His1093Arg) NC_000016.10:2112356:T:C Identity +NM_000937.5:c.811C>T NP_000928.1:p.Arg271Cys NC_000017.11:7497036:C:T p.(Arg271Cys) NC_000017.11:7497036:C:T p.(Arg271Cys) NC_000017.11:7497036:C:T Identity +NM_024119.3:c.265G>C NP_077024.2:p.Gly89Arg NC_000017.11:42111400:C:G p.(Gly89Arg) NC_000017.11:42111400:C:G p.(Gly89Arg) NC_000017.11:42111400:C:G Identity +NM_001371097.1:c.1883T>C NP_001358026.1:p.Leu628Ser NC_000012.12:21067335:T:C p.(Leu628Ser) NC_000012.12:21067335:T:C p.(Leu628Ser) NC_000012.12:21067335:T:C Identity +NM_001284282.2:c.157G>T NP_001271211.1:p.Gly53Cys NC_000007.14:55492401:C:A p.(Gly53Cys) NC_000007.14:55492401:C:A p.(Gly53Cys) NC_000007.14:55492401:C:A Identity +NM_022114.4:c.3190C>T NP_071397.3:p.Leu1064Phe NC_000001.11:3426130:C:T p.(Leu1064Phe) NC_000001.11:3426130:C:T p.(Leu1064Phe) NC_000001.11:3426130:C:T Identity +NM_001004462.2:c.792G>A NP_001004462.1:p.Met264Ile NC_000011.10:124016365:G:A p.(Met264Ile) NC_000011.10:124016365:G:A p.(Met264Ile) NC_000011.10:124016365:G:A Identity +NM_001381853.1:c.1163G>T NP_001368782.1:p.Gly388Val NC_000001.11:241634603:C:A p.(Gly388Val) NC_000001.11:241634603:C:A p.(Gly388Val) NC_000001.11:241634603:C:A Identity +NM_001201380.3:c.1067T>A NP_001188309.2:p.Met356Lys NC_000009.12:41996208:A:T p.(Met356Lys) NC_000009.12:41996208:A:T p.(Met356Lys) NC_000009.12:41996208:A:T Identity +NM_006887.5:c.1205G>T NP_008818.3:p.Gly402Val NC_000002.12:43224598:C:A p.(Gly402Val) NC_000002.12:43224598:C:A p.(Gly402Val) NC_000002.12:43224598:C:A Identity +NM_001005415.2:c.578C>T NP_001005415.1:p.Thr193Met NC_000019.10:8430862:C:T p.(Thr193Met) NC_000019.10:8430862:C:T p.(Thr193Met) NC_000019.10:8430862:C:T Identity +NM_001013354.1:c.873G>T NP_001013372.1:p.Leu291Phe NC_000014.9:18601988:G:T p.(Leu291Phe) NC_000014.9:18601988:G:T p.(Leu291Phe) NC_000014.9:18601988:G:T Identity +NM_001199775.1:c.1272T>A NP_001186704.1:p.His424Gln NC_000017.11:30427553:T:A p.(His424Gln) NC_000017.11:30427553:T:A p.(His424Gln) NC_000017.11:30427553:T:A Identity +NM_001284413.2:c.725C>A NP_001271342.1:p.Ala242Asp NC_000003.12:15575079:G:T p.(Ala242Asp) NC_000003.12:15575079:G:T p.(Ala242Asp) NC_000003.12:15575079:G:T Identity +NM_001362950.1:c.2383A>G NP_001349879.1:p.Thr795Ala NC_000002.12:24707852:A:G p.(Thr795Ala) NC_000002.12:24707852:A:G p.(Thr795Ala) NC_000002.12:24707852:A:G Identity +NM_001364440.2:c.286C>G NP_001351369.1:p.Leu96Val NC_000005.10:7875259:C:G p.(Leu96Val) NC_000005.10:7875259:C:G p.(Leu96Val) NC_000005.10:7875259:C:G Identity +NM_015030.2:c.7262A>C NP_055845.1:p.Gln2421Pro NC_000004.12:48527531:T:G p.(Gln2421Pro) NC_000004.12:48527531:T:G p.(Gln2421Pro) NC_000004.12:48527531:T:G Identity +NM_001376510.1:c.668C>T NP_001363439.1:p.Ala223Val NC_000001.11:230943809:G:A p.(Ala223Val) NC_000001.11:230943809:G:A p.(Ala223Val) NC_000001.11:230943809:G:A Identity +NM_001206955.2:c.2770G>A NP_001193884.1:p.Val924Met NC_000003.12:3043662:G:A p.(Val924Met) NC_000003.12:3043662:G:A p.(Val924Met) NC_000003.12:3043662:G:A Identity +NM_001371223.1:c.3984G>C NP_001358152.1:p.Arg1328Ser NC_000009.12:37746015:G:C p.(Arg1328Ser) NC_000009.12:37746015:G:C p.(Arg1328Ser) NC_000009.12:37746015:G:C Identity +NM_001282164.2:c.118C>A NP_001269093.1:p.Arg40Ser NC_000012.12:132618933:C:A p.(Arg40Ser) NC_000012.12:132618933:C:A p.(Arg40Ser) NC_000012.12:132618933:C:A Identity +NM_001165038.2:c.676A>G NP_001158510.1:p.Met226Val NC_000008.11:21705038:T:C p.(Met226Val) NC_000008.11:21705038:T:C p.(Met226Val) NC_000008.11:21705038:T:C Identity +NM_013329.4:c.1880A>G NP_037461.2:p.Asn627Ser NC_000021.9:32748541:T:C p.(Asn627Ser) NC_000021.9:32748541:T:C p.(Asn627Ser) NC_000021.9:32748541:T:C Identity +NM_001004056.2:c.155T>C NP_001004056.1:p.Leu52Ser NC_000004.12:2988828:T:C p.(Leu52Ser) NC_000004.12:2988828:T:C p.(Leu52Ser) NC_000004.12:2988828:T:C Identity +NM_001012967.3:c.587A>G NP_001012985.2:p.Asn196Ser NC_000004.12:168461717:T:C p.(Asn196Ser) NC_000004.12:168461717:T:C p.(Asn196Ser) NC_000004.12:168461717:T:C Identity +NM_001318202.2:c.2885G>A NP_001305131.1:p.Cys962Tyr NC_000016.10:67230651:C:T p.(Cys962Tyr) NC_000016.10:67230651:C:T p.(Cys962Tyr) NC_000016.10:67230651:C:T Identity +NM_007210.4:c.271C>T NP_009141.2:p.Pro91Ser NC_000012.12:51379510:G:A p.(Pro91Ser) NC_000012.12:51379510:G:A p.(Pro91Ser) NC_000012.12:51379510:G:A Identity +NM_003102.4:c.59C>T NP_003093.2:p.Thr20Met NC_000004.12:24799579:C:T p.(Thr20Met) NC_000004.12:24799579:C:T p.(Thr20Met) NC_000004.12:24799579:C:T Identity +NM_015094.3:c.1247G>C NP_055909.2:p.Gly416Ala NC_000022.11:21446141:G:C p.(Gly416Ala) NC_000022.11:21446141:G:C p.(Gly416Ala) NC_000022.11:21446141:G:C Identity +NM_001145065.2:c.1751A>G NP_001138537.1:p.Asp584Gly NC_000004.12:90628050:A:G p.(Asp584Gly) NC_000004.12:90628050:A:G p.(Asp584Gly) NC_000004.12:90628050:A:G Identity +NM_001199378.2:c.5081T>C NP_001186307.1:p.Leu1694Pro NC_000010.11:102380605:T:C p.(Leu1694Pro) NC_000010.11:102380605:T:C p.(Leu1694Pro) NC_000010.11:102380605:T:C Identity +NM_001308394.2:c.359C>T NP_001295323.1:p.Thr120Ile NC_000003.12:45035799:C:T p.(Thr120Ile) NC_000003.12:45035799:C:T p.(Thr120Ile) NC_000003.12:45035799:C:T Identity +NM_001207044.3:c.2872G>A NP_001193973.1:p.Asp958Asn NC_000003.12:33538838:C:T p.(Asp958Asn) NC_000003.12:33538838:C:T p.(Asp958Asn) NC_000003.12:33538838:C:T Identity +NM_000887.5:c.2611C>T NP_000878.2:p.Arg871Cys NC_000016.10:31376900:C:T p.(Arg871Cys) NC_000016.10:31376900:C:T p.(Arg871Cys) NC_000016.10:31376900:C:T Identity +NM_001369806.1:c.2332G>A NP_001356735.1:p.Ala778Thr NC_000001.11:113966222:G:A p.(Ala778Thr) NC_000001.11:113966222:G:A p.(Ala778Thr) NC_000001.11:113966222:G:A Identity +NM_014939.5:c.3806G>A NP_055754.3:p.Gly1269Glu NC_000018.10:31846746:C:T p.(Gly1269Glu) NC_000018.10:31846746:C:T p.(Gly1269Glu) NC_000018.10:31846746:C:T Identity +NM_152268.4:c.788T>C NP_689481.2:p.Val263Ala NC_000001.11:54758373:A:G p.(Val263Ala) NC_000001.11:54758373:A:G p.(Val263Ala) NC_000001.11:54758373:A:G Identity +NM_001323599.2:c.4666C>A NP_001310528.1:p.His1556Asn NC_000010.11:29471176:G:T p.(His1556Asn) NC_000010.11:29471176:G:T p.(His1556Asn) NC_000010.11:29471176:G:T Identity +NM_001202429.2:c.1826G>T NP_001189358.1:p.Gly609Val NC_000014.9:93934737:C:A p.(Gly609Val) NC_000014.9:93934737:C:A p.(Gly609Val) NC_000014.9:93934737:C:A Identity +NM_001142800.2:c.2726T>A NP_001136272.1:p.Val909Asp NC_000006.12:64902415:A:T p.(Val909Asp) NC_000006.12:64902415:A:T p.(Val909Asp) NC_000006.12:64902415:A:T Identity +NM_001040667.3:c.815C>A NP_001035757.1:p.Pro272His NC_000016.10:67167559:C:A p.(Pro272His) NC_000016.10:67167559:C:A p.(Pro272His) NC_000016.10:67167559:C:A Identity +NM_173651.4:c.1751G>T NP_775922.3:p.Cys584Phe NC_000002.12:185788886:G:T p.(Cys584Phe) NC_000002.12:185788886:G:T p.(Cys584Phe) NC_000002.12:185788886:G:T Identity +NM_007124.3:c.4542G>A NP_009055.2:p.Met1514Ile NC_000006.12:144493404:G:A p.(Met1514Ile) NC_000006.12:144493404:G:A p.(Met1514Ile) NC_000006.12:144493404:G:A Identity +NM_001320373.3:c.2918C>T NP_001307302.1:p.Ala973Val NC_000003.12:184241880:C:T p.(Ala973Val) NC_000003.12:184241880:C:T p.(Ala973Val) NC_000003.12:184241880:C:T Identity +NM_001105566.3:c.2973G>A NP_001099036.1:p.Met991Ile NC_000006.12:17794673:C:T p.(Met991Ile) NC_000006.12:17794673:C:T p.(Met991Ile) NC_000006.12:17794673:C:T Identity +NM_001199207.2:c.1820C>T NP_001186136.1:p.Thr607Ile NC_000007.14:74545800:C:T p.(Thr607Ile) NC_000007.14:74545800:C:T p.(Thr607Ile) NC_000007.14:74545800:C:T Identity +NM_015072.5:c.611A>C NP_055887.3:p.Asn204Thr NC_000014.9:75707042:A:C p.(Asn204Thr) NC_000014.9:75707042:A:C p.(Asn204Thr) NC_000014.9:75707042:A:C Identity +NM_178422.6:c.197T>C NP_848509.1:p.Phe66Ser NC_000001.11:25863642:A:G p.(Phe66Ser) NC_000001.11:25863642:A:G p.(Phe66Ser) NC_000001.11:25863642:A:G Identity +NM_032478.4:c.334G>A NP_115867.2:p.Glu112Lys NC_000017.11:75902067:C:T p.(Glu112Lys) NC_000017.11:75902067:C:T p.(Glu112Lys) NC_000017.11:75902067:C:T Identity +NM_001387214.1:c.1167C>G NP_001374143.1:p.Ser389Arg NC_000015.10:29124687:G:C p.(Ser389Arg) NC_000015.10:29124687:G:C p.(Ser389Arg) NC_000015.10:29124687:G:C Identity +NM_015346.4:c.846G>T NP_056161.2:p.Lys282Asn NC_000014.9:67807437:C:A p.(Lys282Asn) NC_000014.9:67807437:C:A p.(Lys282Asn) NC_000014.9:67807437:C:A Identity +NM_001037984.3:c.1808T>C NP_001033073.1:p.Leu603Pro NC_000017.11:81252331:A:G p.(Leu603Pro) NC_000017.11:81252331:A:G p.(Leu603Pro) NC_000017.11:81252331:A:G Identity +NM_000893.4:c.935T>G NP_000884.1:p.Val312Gly NC_000003.12:186739102:T:G p.(Val312Gly) NC_000003.12:186739102:T:G p.(Val312Gly) NC_000003.12:186739102:T:G Identity +NM_001297615.2:c.587T>C NP_001284544.1:p.Val196Ala NC_000004.12:69495274:A:G p.(Val196Ala) NC_000004.12:69495274:A:G p.(Val196Ala) NC_000004.12:69495274:A:G Identity +NM_152338.4:c.373G>A NP_689551.3:p.Gly125Ser NC_000016.10:29780287:G:A p.(Gly125Ser) NC_000016.10:29780287:G:A p.(Gly125Ser) NC_000016.10:29780287:G:A Identity +NM_005015.5:c.58C>G NP_005006.4:p.Arg20Gly NC_000014.9:22766758:C:G p.(Arg20Gly) NC_000014.9:22766758:C:G p.(Arg20Gly) NC_000014.9:22766758:C:G Identity +NM_001142733.3:c.479G>T NP_001136205.2:p.Arg160Leu NC_000003.12:57283429:C:A p.(Arg160Leu) NC_000003.12:57283429:C:A p.(Arg160Leu) NC_000003.12:57283429:C:A Identity +NM_000671.4:c.950C>A NP_000662.3:p.Thr317Asn NC_000004.12:99074924:G:T p.(Thr317Asn) NC_000004.12:99074924:G:T p.(Thr317Asn) NC_000004.12:99074924:G:T Identity +NM_001271734.2:c.365G>A NP_001258663.1:p.Arg122Gln NC_000012.12:54348037:G:A p.(Arg122Gln) NC_000012.12:54348037:G:A p.(Arg122Gln) NC_000012.12:54348037:G:A Identity +NM_016239.4:c.9590G>T NP_057323.3:p.Ser3197Ile NC_000017.11:18162656:G:T p.(Ser3197Ile) NC_000017.11:18162656:G:T p.(Ser3197Ile) NC_000017.11:18162656:G:T Identity +NM_001042369.2:c.880C>T NP_001035828.1:p.Leu294Phe NC_000001.11:193076578:C:T p.(Leu294Phe) NC_000001.11:193076578:C:T p.(Leu294Phe) NC_000001.11:193076578:C:T Identity +NM_022449.4:c.80G>T NP_071894.1:p.Ser27Ile NC_000002.12:237586074:C:A p.(Ser27Ile) NC_000002.12:237586074:C:A p.(Ser27Ile) NC_000002.12:237586074:C:A Identity +NM_138392.4:c.1955A>G NP_612401.2:p.Gln652Arg NC_000019.10:40591037:A:G p.(Gln652Arg) NC_000019.10:40591037:A:G p.(Gln652Arg) NC_000019.10:40591037:A:G Identity +NM_024509.2:c.644G>A NP_078785.1:p.Arg215His NC_000019.10:35940068:G:A p.(Arg215His) NC_000019.10:35940068:G:A p.(Arg215His) NC_000019.10:35940068:G:A Identity +NM_001080429.3:c.620C>T NP_001073898.1:p.Ser207Leu NC_000019.10:7606569:C:T p.(Ser207Leu) NC_000019.10:7606569:C:T p.(Ser207Leu) NC_000019.10:7606569:C:T Identity +NM_170606.3:c.6623G>A NP_733751.2:p.Gly2208Glu NC_000007.14:152181236:C:T p.(Gly2208Glu) NC_000007.14:152181236:C:T p.(Gly2208Glu) NC_000007.14:152181236:C:T Identity +NM_001134335.2:c.333C>G NP_001127807.1:p.Asp111Glu NC_000007.14:6049989:G:C p.(Asp111Glu) NC_000007.14:6049989:G:C p.(Asp111Glu) NC_000007.14:6049989:G:C Identity +NM_012334.3:c.4511C>G NP_036466.2:p.Thr1504Ser NC_000005.10:16679977:G:C p.(Thr1504Ser) NC_000005.10:16679977:G:C p.(Thr1504Ser) NC_000005.10:16679977:G:C Identity +NM_001032221.6:c.970A>G NP_001027392.1:p.Met324Val NC_000009.12:127672056:A:G p.(Met324Val) NC_000009.12:127672056:A:G p.(Met324Val) NC_000009.12:127672056:A:G Identity +NM_001286124.2:c.1054G>A NP_001273053.1:p.Ala352Thr NC_000001.11:220632244:G:A p.(Ala352Thr) NC_000001.11:220632244:G:A p.(Ala352Thr) NC_000001.11:220632244:G:A Identity +NM_001303270.2:c.601C>A NP_001290199.1:p.Leu201Met NC_000017.11:7733287:C:A p.(Leu201Met) NC_000017.11:7733287:C:A p.(Leu201Met) NC_000017.11:7733287:C:A Identity +NM_021214.2:c.80G>C NP_067037.1:p.Ser27Thr NC_000015.10:80695508:G:C p.(Ser27Thr) NC_000015.10:80695508:G:C p.(Ser27Thr) NC_000015.10:80695508:G:C Identity +NM_001376256.1:c.890T>C NP_001363185.1:p.Val297Ala NC_000016.10:21258835:A:G p.(Val297Ala) NC_000016.10:21258835:A:G p.(Val297Ala) NC_000016.10:21258835:A:G Identity +NM_001018115.3:c.89A>G NP_001018125.1:p.Lys30Arg NC_000003.12:10032855:A:G p.(Lys30Arg) NC_000003.12:10032855:A:G p.(Lys30Arg) NC_000003.12:10032855:A:G Identity +NM_001288727.2:c.2816C>T NP_001275656.1:p.Pro939Leu NC_000010.11:102141323:C:T p.(Pro939Leu) NC_000010.11:102141323:C:T p.(Pro939Leu) NC_000010.11:102141323:C:T Identity +NM_001039500.3:c.632T>C NP_001034589.2:p.Leu211Pro NC_000001.11:20317597:T:C p.(Leu211Pro) NC_000001.11:20317597:T:C p.(Leu211Pro) NC_000001.11:20317597:T:C Identity +NM_001007026.2:c.2282G>C NP_001007027.1:p.Ser761Thr NC_000012.12:6937548:G:C p.(Ser761Thr) NC_000012.12:6937548:G:C p.(Ser761Thr) NC_000012.12:6937548:G:C Identity +NM_000156.6:c.427A>T NP_000147.1:p.Thr143Ser NC_000019.10:1399159:T:A p.(Thr143Ser) NC_000019.10:1399159:T:A p.(Thr143Ser) NC_000019.10:1399159:T:A Identity +NM_018921.3:c.1231G>A NP_061744.1:p.Asp411Asn NC_000005.10:141404182:G:A p.(Asp411Asn) NC_000005.10:141404182:G:A p.(Asp411Asn) NC_000005.10:141404182:G:A Identity +NM_001317192.2:c.683C>T NP_001304121.1:p.Pro228Leu NC_000017.11:48930565:G:A p.(Pro228Leu) NC_000017.11:48930565:G:A p.(Pro228Leu) NC_000017.11:48930565:G:A Identity +NM_019891.4:c.482G>A NP_063944.3:p.Arg161Gln NC_000001.11:236243444:C:T p.(Arg161Gln) NC_000001.11:236243444:C:T p.(Arg161Gln) NC_000001.11:236243444:C:T Identity +NM_080283.4:c.597G>A NP_525022.2:p.Met199Ile NC_000017.11:69043691:C:T p.(Met199Ile) NC_000017.11:69043691:C:T p.(Met199Ile) NC_000017.11:69043691:C:T Identity +NM_001330615.4:c.73G>A NP_001317544.2:p.Asp25Asn NC_000003.12:12379783:G:A p.(Asp25Asn) NC_000003.12:12379783:G:A p.(Asp25Asn) NC_000003.12:12379783:G:A Identity +NM_139056.4:c.2813C>T NP_620687.2:p.Ala938Val NC_000005.10:5303290:C:T p.(Ala938Val) NC_000005.10:5303290:C:T p.(Ala938Val) NC_000005.10:5303290:C:T Identity +NM_001199505.1:c.763G>A NP_001186434.1:p.Ala255Thr NC_000020.11:59773298:G:A p.(Ala255Thr) NC_000020.11:59773298:G:A p.(Ala255Thr) NC_000020.11:59773298:G:A Identity +NM_152405.5:c.1050G>T NP_689618.4:p.Lys350Asn NC_000005.10:79277926:G:T p.(Lys350Asn) NC_000005.10:79277926:G:T p.(Lys350Asn) NC_000005.10:79277926:G:T Identity +NM_004599.4:c.3265C>A NP_004590.2:p.Arg1089Ser NC_000022.11:41905498:C:A p.(Arg1089Ser) NC_000022.11:41905498:C:A p.(Arg1089Ser) NC_000022.11:41905498:C:A Identity +NM_014924.5:c.52G>T NP_055739.2:p.Gly18Trp NC_000014.9:55411770:C:A p.(Gly18Trp) NC_000014.9:55411770:C:A p.(Gly18Trp) NC_000014.9:55411770:C:A Identity +NM_201648.3:c.697A>C NP_964011.2:p.Thr233Pro NC_000011.10:58709959:T:G p.(Thr233Pro) NC_000011.10:58709959:T:G p.(Thr233Pro) NC_000011.10:58709959:T:G Identity +NM_025130.4:c.2663C>T NP_079406.4:p.Thr888Ile NC_000010.11:69266665:C:T p.(Thr888Ile) NC_000010.11:69266665:C:T p.(Thr888Ile) NC_000010.11:69266665:C:T Identity +NM_001365891.2:c.257C>T NP_001352820.1:p.Ser86Phe NC_000010.11:114188087:C:T p.(Ser86Phe) NC_000010.11:114188087:C:T p.(Ser86Phe) NC_000010.11:114188087:C:T Identity +NM_014553.3:c.956A>G NP_055368.1:p.His319Arg NC_000002.12:121237669:T:C p.(His319Arg) NC_000002.12:121237669:T:C p.(His319Arg) NC_000002.12:121237669:T:C Identity +NM_001278469.3:c.2401A>G NP_001265398.1:p.Thr801Ala NC_000012.12:62543132:A:G p.(Thr801Ala) NC_000012.12:62543132:A:G p.(Thr801Ala) NC_000012.12:62543132:A:G Identity +NM_001144763.2:c.3227T>C NP_001138235.1:p.Leu1076Pro NC_000011.10:108512051:A:G p.(Leu1076Pro) NC_000011.10:108512051:A:G p.(Leu1076Pro) NC_000011.10:108512051:A:G Identity +NM_001242374.1:c.70C>G NP_001229303.1:p.Leu24Val NC_000003.12:134482834:G:C p.(Leu24Val) NC_000003.12:134482834:G:C p.(Leu24Val) NC_000003.12:134482834:G:C Identity +NM_201435.5:c.493C>A NP_958843.2:p.Leu165Ile NC_000012.12:122785814:C:A p.(Leu165Ile) NC_000012.12:122785814:C:A p.(Leu165Ile) NC_000012.12:122785814:C:A Identity +NM_014699.4:c.1613C>T NP_055514.3:p.Pro538Leu NC_000016.10:31077936:C:T p.(Pro538Leu) NC_000016.10:31077936:C:T p.(Pro538Leu) NC_000016.10:31077936:C:T Identity +NM_001177998.2:c.287G>T NP_001171469.2:p.Gly96Val NC_000004.12:25664240:G:T p.(Gly96Val) NC_000004.12:25664240:G:T p.(Gly96Val) NC_000004.12:25664240:G:T Identity +NM_001013841.2:c.532C>T NP_001013863.1:p.Arg178Trp NC_000019.10:4328732:G:A p.(Arg178Trp) NC_000019.10:4328732:G:A p.(Arg178Trp) NC_000019.10:4328732:G:A Identity +NM_133445.3:c.1199T>C NP_597702.2:p.Val400Ala NC_000009.12:101686700:A:G p.(Val400Ala) NC_000009.12:101686700:A:G p.(Val400Ala) NC_000009.12:101686700:A:G Identity +NM_001004753.2:c.469G>A NP_001004753.2:p.Val157Ile NC_000011.10:4821889:G:A p.(Val157Ile) NC_000011.10:4821889:G:A p.(Val157Ile) NC_000011.10:4821889:G:A Identity +NM_001012980.2:c.592G>A NP_001012998.2:p.Val198Met NC_000023.11:85108376:C:T p.(Val198Met) NC_000023.11:85108376:C:T p.(Val198Met) NC_000023.11:85108376:C:T Identity +NM_001143687.2:c.34G>A NP_001137159.1:p.Gly12Arg NC_000001.11:155034069:G:A p.(Gly12Arg) NC_000001.11:155034069:G:A p.(Gly12Arg) NC_000001.11:155034069:G:A Identity +NM_003786.4:c.1789G>A NP_003777.2:p.Val597Met NC_000017.11:50668435:G:A p.(Val597Met) NC_000017.11:50668435:G:A p.(Val597Met) NC_000017.11:50668435:G:A Identity +NM_001113182.3:c.25A>G NP_001106653.1:p.Asn9Asp NC_000006.12:32972922:A:G p.(Asn9Asp) NC_000006.12:32972922:A:G p.(Asn9Asp) NC_000006.12:32972922:A:G Identity +NM_016640.4:c.1213A>G NP_057724.2:p.Ile405Val NC_000005.10:44815094:A:G p.(Ile405Val) NC_000005.10:44815094:A:G p.(Ile405Val) NC_000005.10:44815094:A:G Identity +NM_152367.3:c.433G>A NP_689580.2:p.Val145Met NC_000001.11:116124308:G:A p.(Val145Met) NC_000001.11:116124308:G:A p.(Val145Met) NC_000001.11:116124308:G:A Identity +NM_006272.3:c.11T>C NP_006263.1:p.Leu4Pro NC_000021.9:46602404:A:G p.(Leu4Pro) NC_000021.9:46602404:A:G p.(Leu4Pro) NC_000021.9:46602404:A:G Identity +NM_001190479.3:c.763C>T NP_001177408.1:p.Arg255Trp NC_000015.10:40281823:G:A p.(Arg255Trp) NC_000015.10:40281823:G:A p.(Arg255Trp) NC_000015.10:40281823:G:A Identity +NM_014810.5:c.8054C>G NP_055625.4:p.Thr2685Ser NC_000001.11:180094158:C:G p.(Thr2685Ser) NC_000001.11:180094158:C:G p.(Thr2685Ser) NC_000001.11:180094158:C:G Identity +NM_001145451.5:c.915G>T NP_001138923.2:p.Glu305Asp NC_000002.12:38944024:G:T p.(Glu305Asp) NC_000002.12:38944024:G:T p.(Glu305Asp) NC_000002.12:38944024:G:T Identity +NM_014479.3:c.199G>A NP_055294.1:p.Gly67Ser NC_000008.11:24392371:G:A p.(Gly67Ser) NC_000008.11:24392371:G:A p.(Gly67Ser) NC_000008.11:24392371:G:A Identity +NM_001365116.2:c.256G>C NP_001352045.1:p.Glu86Gln NC_000003.12:46989091:G:C p.(Glu86Gln) NC_000003.12:46989091:G:C p.(Glu86Gln) NC_000003.12:46989091:G:C Identity +NM_001166226.2:c.1826C>T NP_001159698.1:p.Ala609Val NC_000005.10:123382845:G:A p.(Ala609Val) NC_000005.10:123382845:G:A p.(Ala609Val) NC_000005.10:123382845:G:A Identity +NM_001018054.3:c.1676G>T NP_001018064.1:p.Trp559Leu NC_000001.11:53262543:C:A p.(Trp559Leu) NC_000001.11:53262543:C:A p.(Trp559Leu) NC_000001.11:53262543:C:A Identity +NM_001292016.2:c.149C>A NP_001278945.1:p.Ala50Asp NC_000004.12:2756140:G:T p.(Ala50Asp) NC_000004.12:2756140:G:T p.(Ala50Asp) NC_000004.12:2756140:G:T Identity +NM_002458.3:c.11519C>G NP_002449.2:p.Thr3840Arg NC_000011.10:1248398:C:G p.(Thr3840Arg) NC_000011.10:1248398:C:G p.(Thr3840Arg) NC_000011.10:1248398:C:G Identity +NM_015360.5:c.1996G>A NP_056175.3:p.Gly666Arg NC_000005.10:55379138:G:A p.(Gly666Arg) NC_000005.10:55379138:G:A p.(Gly666Arg) NC_000005.10:55379138:G:A Identity +NM_001297608.2:c.1103A>G NP_001284537.1:p.Asn368Ser NC_000004.12:52079762:A:G p.(Asn368Ser) NC_000004.12:52079762:A:G p.(Asn368Ser) NC_000004.12:52079762:A:G Identity +NM_001376195.1:c.2275G>A NP_001363124.1:p.Gly759Arg NC_000006.12:30602373:C:T p.(Gly759Arg) NC_000006.12:30602373:C:T p.(Gly759Arg) NC_000006.12:30602373:C:T Identity +NM_021733.2:c.1409G>A NP_068379.1:p.Arg470Gln NC_000019.10:49741972:C:T p.(Arg470Gln) NC_000019.10:49741972:C:T p.(Arg470Gln) NC_000019.10:49741972:C:T Identity +NM_032876.6:c.1376A>G NP_116265.1:p.Tyr459Cys NC_000014.9:22974884:T:C p.(Tyr459Cys) NC_000014.9:22974884:T:C p.(Tyr459Cys) NC_000014.9:22974884:T:C Identity +NM_001137675.4:c.958G>A NP_001131147.1:p.Val320Ile NC_000016.10:71850697:G:A p.(Val320Ile) NC_000016.10:71850697:G:A p.(Val320Ile) NC_000016.10:71850697:G:A Identity +NM_018927.4:c.1598A>G NP_061750.1:p.Gln533Arg NC_000005.10:141419456:A:G p.(Gln533Arg) NC_000005.10:141419456:A:G p.(Gln533Arg) NC_000005.10:141419456:A:G Identity +NM_001178010.2:c.248T>C NP_001171481.1:p.Leu83Pro NC_000022.11:19482732:T:C p.(Leu83Pro) NC_000022.11:19482732:T:C p.(Leu83Pro) NC_000022.11:19482732:T:C Identity +NM_001033081.3:c.340G>C NP_001028253.1:p.Ala114Pro NC_000001.11:39901094:C:G p.(Ala114Pro) NC_000001.11:39901094:C:G p.(Ala114Pro) NC_000001.11:39901094:C:G Identity +NM_212556.4:c.338C>A NP_997721.2:p.Thr113Asn NC_000002.12:236237946:G:T p.(Thr113Asn) NC_000002.12:236237946:G:T p.(Thr113Asn) NC_000002.12:236237946:G:T Identity +NM_001286434.2:c.76G>A NP_001273363.1:p.Val26Met NC_000015.10:73881658:G:A p.(Val26Met) NC_000015.10:73881658:G:A p.(Val26Met) NC_000015.10:73881658:G:A Identity +NM_001198934.2:c.1447G>T NP_001185863.1:p.Ala483Ser NC_000006.12:43434686:G:T p.(Ala483Ser) NC_000006.12:43434686:G:T p.(Ala483Ser) NC_000006.12:43434686:G:T Identity +NM_001136035.4:c.1105C>G NP_001129507.1:p.Arg369Gly NC_000019.10:13109915:G:C p.(Arg369Gly) NC_000019.10:13109915:G:C p.(Arg369Gly) NC_000019.10:13109915:G:C Identity +NM_001001655.3:c.461A>C NP_001001655.1:p.Asn154Thr NC_000012.12:109090026:T:G p.(Asn154Thr) NC_000012.12:109090026:T:G p.(Asn154Thr) NC_000012.12:109090026:T:G Identity +NM_001463.4:c.556A>G NP_001454.2:p.Thr186Ala NC_000002.12:182842513:T:C p.(Thr186Ala) NC_000002.12:182842513:T:C p.(Thr186Ala) NC_000002.12:182842513:T:C Identity +NM_153221.2:c.2940C>A NP_694953.2:p.Asp980Glu NC_000019.10:19545484:C:A p.(Asp980Glu) NC_000019.10:19545484:C:A p.(Asp980Glu) NC_000019.10:19545484:C:A Identity +NM_015063.3:c.1934T>C NP_055878.1:p.Ile645Thr NC_000019.10:47437924:A:G p.(Ile645Thr) NC_000019.10:47437924:A:G p.(Ile645Thr) NC_000019.10:47437924:A:G Identity +NM_004369.4:c.326T>C NP_004360.2:p.Met109Thr NC_000002.12:237394969:A:G p.(Met109Thr) NC_000002.12:237394969:A:G p.(Met109Thr) NC_000002.12:237394969:A:G Identity +NM_000747.3:c.197T>G NP_000738.2:p.Leu66Arg NC_000017.11:7445407:T:G p.(Leu66Arg) NC_000017.11:7445407:T:G p.(Leu66Arg) NC_000017.11:7445407:T:G Identity +NM_001365029.1:c.2921A>C NP_001351958.1:p.Gln974Pro NC_000009.12:17415998:A:C p.(Gln974Pro) NC_000009.12:17415998:A:C p.(Gln974Pro) NC_000009.12:17415998:A:C Identity +NM_001190946.3:c.2459C>T NP_001177875.1:p.Thr820Ile NC_000005.10:177521984:G:A p.(Thr820Ile) NC_000005.10:177521984:G:A p.(Thr820Ile) NC_000005.10:177521984:G:A Identity +NM_001376495.1:c.2603G>C NP_001363424.1:p.Arg868Thr NC_000011.10:8702688:C:G p.(Arg868Thr) NC_000011.10:8702688:C:G p.(Arg868Thr) NC_000011.10:8702688:C:G Identity +NM_003378.4:c.1064C>T NP_003369.2:p.Ala355Val NC_000007.14:101163779:G:A p.(Ala355Val) NC_000007.14:101163779:G:A p.(Ala355Val) NC_000007.14:101163779:G:A Identity +NM_001003801.2:c.368T>C NP_001003801.1:p.Met123Thr NC_000007.14:151242808:A:G p.(Met123Thr) NC_000007.14:151242808:A:G p.(Met123Thr) NC_000007.14:151242808:A:G Identity +NM_001352260.2:c.3693G>T NP_001339189.1:p.Lys1231Asn NC_000019.10:30549311:G:T p.(Lys1231Asn) NC_000019.10:30549311:G:T p.(Lys1231Asn) NC_000019.10:30549311:G:T Identity +NM_024735.5:c.432C>G NP_079011.3:p.His144Gln NC_000016.10:87347230:G:C p.(His144Gln) NC_000016.10:87347230:G:C p.(His144Gln) NC_000016.10:87347230:G:C Identity +NM_001363341.2:c.512C>T NP_001350270.1:p.Ala171Val NC_000004.12:151717003:G:A p.(Ala171Val) NC_000004.12:151717003:G:A p.(Ala171Val) NC_000004.12:151717003:G:A Identity +NM_007035.4:c.719C>T NP_008966.1:p.Ala240Val NC_000012.12:91055562:G:A p.(Ala240Val) NC_000012.12:91055562:G:A p.(Ala240Val) NC_000012.12:91055562:G:A Identity +NM_025009.5:c.2848G>A NP_079285.2:p.Ala950Thr NC_000004.12:56017692:G:A p.(Ala950Thr) NC_000004.12:56017692:G:A p.(Ala950Thr) NC_000004.12:56017692:G:A Identity +NM_001377523.1:c.683C>T NP_001364452.1:p.Thr228Ile NC_000014.9:21321998:C:T p.(Thr228Ile) NC_000014.9:21321998:C:T p.(Thr228Ile) NC_000014.9:21321998:C:T Identity +NM_001317950.2:c.1015G>A NP_001304879.1:p.Ala339Thr NC_000009.12:114376791:C:T p.(Ala339Thr) NC_000009.12:114376791:C:T p.(Ala339Thr) NC_000009.12:114376791:C:T Identity +NM_001220488.2:c.47A>G NP_001207417.1:p.Glu16Gly NC_000016.10:82627103:A:G p.(Glu16Gly) NC_000016.10:82627103:A:G p.(Glu16Gly) NC_000016.10:82627103:A:G Identity +NM_020715.3:c.739G>A NP_065766.1:p.Gly247Arg NC_000014.9:67562369:G:A p.(Gly247Arg) NC_000014.9:67562369:G:A p.(Gly247Arg) NC_000014.9:67562369:G:A Identity +NM_002508.3:c.3098G>T NP_002499.2:p.Arg1033Leu NC_000001.11:235981739:C:A p.(Arg1033Leu) NC_000001.11:235981739:C:A p.(Arg1033Leu) NC_000001.11:235981739:C:A Identity +NM_005021.5:c.460G>A NP_005012.2:p.Glu154Lys NC_000006.12:131652886:G:A p.(Glu154Lys) NC_000006.12:131652886:G:A p.(Glu154Lys) NC_000006.12:131652886:G:A Identity +NM_015672.2:c.1544C>T NP_056487.1:p.Pro515Leu NC_000022.11:18609890:G:A p.(Pro515Leu) NC_000022.11:18609890:G:A p.(Pro515Leu) NC_000022.11:18609890:G:A Identity +NM_001270528.2:c.901G>T NP_001257457.1:p.Val301Leu NC_000015.10:59052324:G:T p.(Val301Leu) NC_000015.10:59052324:G:T p.(Val301Leu) NC_000015.10:59052324:G:T Identity +NM_001145451.5:c.1402G>C NP_001138923.2:p.Ala468Pro NC_000002.12:38958064:G:C p.(Ala468Pro) NC_000002.12:38958064:G:C p.(Ala468Pro) NC_000002.12:38958064:G:C Identity +NM_001145659.1:c.98A>C NP_001139131.1:p.Asp33Ala NC_000006.12:131710919:T:G p.(Asp33Ala) NC_000006.12:131710919:T:G p.(Asp33Ala) NC_000006.12:131710919:T:G Identity +NM_001308147.2:c.3407T>A NP_001295076.1:p.Leu1136His NC_000014.9:64743449:T:A p.(Leu1136His) NC_000014.9:64743449:T:A p.(Leu1136His) NC_000014.9:64743449:T:A Identity +NM_001279349.2:c.137G>T NP_001266278.1:p.Ser46Ile NC_000009.12:133417707:C:A p.(Ser46Ile) NC_000009.12:133417707:C:A p.(Ser46Ile) NC_000009.12:133417707:C:A Identity +NM_001128227.3:c.1754A>G NP_001121699.1:p.His585Arg NC_000009.12:36219992:T:C p.(His585Arg) NC_000009.12:36219992:T:C p.(His585Arg) NC_000009.12:36219992:T:C Identity +NM_001012301.4:c.1196C>A NP_001012301.1:p.Ala399Asp NC_000005.10:150297727:G:T p.(Ala399Asp) NC_000005.10:150297727:G:T p.(Ala399Asp) NC_000005.10:150297727:G:T Identity +NM_001271686.2:c.857G>A NP_001258615.1:p.Arg286His NC_000011.10:61902505:C:T p.(Arg286His) NC_000011.10:61902505:C:T p.(Arg286His) NC_000011.10:61902505:C:T Identity +NM_001291296.2:c.1108G>A NP_001278225.1:p.Ala370Thr NC_000019.10:47475450:C:T p.(Ala370Thr) NC_000019.10:47475450:C:T p.(Ala370Thr) NC_000019.10:47475450:C:T Identity +NM_153209.4:c.724C>T NP_694941.2:p.Arg242Trp NC_000017.11:74344901:C:T p.(Arg242Trp) NC_000017.11:74344901:C:T p.(Arg242Trp) NC_000017.11:74344901:C:T Identity +NM_032881.3:c.337G>C NP_116270.1:p.Gly113Arg NC_000001.11:36393792:C:G p.(Gly113Arg) NC_000001.11:36393792:C:G p.(Gly113Arg) NC_000001.11:36393792:C:G Identity +NM_001003406.2:c.5878G>T NP_001003406.1:p.Ala1960Ser NC_000022.11:39684453:G:T p.(Ala1960Ser) NC_000022.11:39684453:G:T p.(Ala1960Ser) NC_000022.11:39684453:G:T Identity +NM_007024.5:c.542G>A NP_008955.1:p.Arg181Gln NC_000003.12:50358521:C:T p.(Arg181Gln) NC_000003.12:50358521:C:T p.(Arg181Gln) NC_000003.12:50358521:C:T Identity +NM_001243225.2:c.298G>A NP_001230154.1:p.Glu100Lys NC_000022.11:30587355:C:T p.(Glu100Lys) NC_000022.11:30587355:C:T p.(Glu100Lys) NC_000022.11:30587355:C:T Identity +NM_001410796.1:c.820A>C NP_001397725.1:p.Thr274Pro NC_000001.11:51444932:T:G p.(Thr274Pro) NC_000001.11:51444932:T:G p.(Thr274Pro) NC_000001.11:51444932:T:G Identity +NM_018053.4:c.544C>T NP_060523.2:p.His182Tyr NC_000001.11:27966555:C:T p.(His182Tyr) NC_000001.11:27966555:C:T p.(His182Tyr) NC_000001.11:27966555:C:T Identity +NM_020414.4:c.227G>T NP_065147.1:p.Arg76Ile NC_000014.9:94079515:C:A p.(Arg76Ile) NC_000014.9:94079515:C:A p.(Arg76Ile) NC_000014.9:94079515:C:A Identity +NM_001365029.1:c.2909A>G NP_001351958.1:p.Asn970Ser NC_000009.12:17415986:A:G p.(Asn970Ser) NC_000009.12:17415986:A:G p.(Asn970Ser) NC_000009.12:17415986:A:G Identity +NM_198449.3:c.338A>G NP_940851.1:p.Asn113Ser NC_000005.10:50411241:T:C p.(Asn113Ser) NC_000005.10:50411241:T:C p.(Asn113Ser) NC_000005.10:50411241:T:C Identity +NM_001032367.2:c.1261T>A NP_001027539.1:p.Cys421Ser NC_000015.10:40856034:T:A p.(Cys421Ser) NC_000015.10:40856034:T:A p.(Cys421Ser) NC_000015.10:40856034:T:A Identity +NM_001321685.2:c.1688C>G NP_001308614.1:p.Thr563Ser NC_000019.10:44132301:C:G p.(Thr563Ser) NC_000019.10:44132301:C:G p.(Thr563Ser) NC_000019.10:44132301:C:G Identity +NM_001001894.3:c.553G>A NP_001001894.1:p.Gly185Arg NC_000021.9:37091364:G:A p.(Gly185Arg) NC_000021.9:37091364:G:A p.(Gly185Arg) NC_000021.9:37091364:G:A Identity +NM_001317996.2:c.1019C>T NP_001304925.1:p.Thr340Met NC_000022.11:21688103:C:T p.(Thr340Met) NC_000022.11:21688103:C:T p.(Thr340Met) NC_000022.11:21688103:C:T Identity +NM_002039.4:c.581C>G NP_002030.2:p.Pro194Arg NC_000004.12:143433703:C:G p.(Pro194Arg) NC_000004.12:143433703:C:G p.(Pro194Arg) NC_000004.12:143433703:C:G Identity +NM_001146197.3:c.4065T>G NP_001139669.1:p.Phe1355Leu NC_000013.11:102746631:A:C p.(Phe1355Leu) NC_000013.11:102746631:A:C p.(Phe1355Leu) NC_000013.11:102746631:A:C Identity +NM_001330588.2:c.3512G>A NP_001317517.1:p.Ser1171Asn NC_000013.11:102674422:G:A p.(Ser1171Asn) NC_000013.11:102674422:G:A p.(Ser1171Asn) NC_000013.11:102674422:G:A Identity +NM_024816.3:c.124C>G NP_079092.2:p.Arg42Gly NC_000016.10:28924552:G:C p.(Arg42Gly) NC_000016.10:28924552:G:C p.(Arg42Gly) NC_000016.10:28924552:G:C Identity +NM_001320417.2:c.526A>C NP_001307346.1:p.Lys176Gln NC_000002.12:99169394:T:G p.(Lys176Gln) NC_000002.12:99169394:T:G p.(Lys176Gln) NC_000002.12:99169394:T:G Identity +NM_001300801.2:c.3893C>G NP_001287730.1:p.Pro1298Arg NC_000012.12:122986165:G:C p.(Pro1298Arg) NC_000012.12:122986165:G:C p.(Pro1298Arg) NC_000012.12:122986165:G:C Identity +NM_014911.5:c.2648C>T NP_055726.4:p.Ala883Val NC_000002.12:69478982:G:A p.(Ala883Val) NC_000002.12:69478982:G:A p.(Ala883Val) NC_000002.12:69478982:G:A Identity +NM_001118.5:c.556A>G NP_001109.2:p.Asn186Asp NC_000007.14:31085328:A:G p.(Asn186Asp) NC_000007.14:31085328:A:G p.(Asn186Asp) NC_000007.14:31085328:A:G Identity +NM_001385116.1:c.3821G>A NP_001372045.1:p.Arg1274Gln NC_000014.9:88658242:C:T p.(Arg1274Gln) NC_000014.9:88658242:C:T p.(Arg1274Gln) NC_000014.9:88658242:C:T Identity +NM_001385204.1:c.659G>T NP_001372133.1:p.Arg220Leu NC_000019.10:10365868:C:A p.(Arg220Leu) NC_000019.10:10365868:C:A p.(Arg220Leu) NC_000019.10:10365868:C:A Identity +NM_001142471.2:c.215A>G NP_001135943.1:p.Lys72Arg NC_000004.12:105695609:T:C p.(Lys72Arg) NC_000004.12:105695609:T:C p.(Lys72Arg) NC_000004.12:105695609:T:C Identity +NM_001040451.3:c.1219G>A NP_001035541.1:p.Ala407Thr NC_000005.10:179596592:G:A p.(Ala407Thr) NC_000005.10:179596592:G:A p.(Ala407Thr) NC_000005.10:179596592:G:A Identity +NM_001297605.2:c.463A>G NP_001284534.1:p.Thr155Ala NC_000001.11:2560625:A:G p.(Thr155Ala) NC_000001.11:2560625:A:G p.(Thr155Ala) NC_000001.11:2560625:A:G Identity +NM_001362797.2:c.1701G>C NP_001349726.1:p.Lys567Asn NC_000008.11:122953210:G:C p.(Lys567Asn) NC_000008.11:122953210:G:C p.(Lys567Asn) NC_000008.11:122953210:G:C Identity +NM_000092.5:c.4432C>T NP_000083.3:p.Pro1478Ser NC_000002.12:227010402:G:A p.(Pro1478Ser) NC_000002.12:227010402:G:A p.(Pro1478Ser) NC_000002.12:227010402:G:A Identity +NM_023002.3:c.79G>A NP_075378.1:p.Ala27Thr NC_000019.10:19261487:C:T p.(Ala27Thr) NC_000019.10:19261487:C:T p.(Ala27Thr) NC_000019.10:19261487:C:T Identity +NM_001039702.3:c.638T>C NP_001034791.1:p.Ile213Thr NC_000010.11:15071859:T:C p.(Ile213Thr) NC_000010.11:15071859:T:C p.(Ile213Thr) NC_000010.11:15071859:T:C Identity +NM_002664.3:c.751T>G NP_002655.2:p.Leu251Val NC_000002.12:68388479:T:G p.(Leu251Val) NC_000002.12:68388479:T:G p.(Leu251Val) NC_000002.12:68388479:T:G Identity +NM_001115116.2:c.514A>C NP_001108588.1:p.Asn172His NC_000002.12:70979756:A:C p.(Asn172His) NC_000002.12:70979756:A:C p.(Asn172His) NC_000002.12:70979756:A:C Identity +NM_012364.1:c.161G>A NP_036496.1:p.Arg54His NC_000009.12:122614897:G:A p.(Arg54His) NC_000009.12:122614897:G:A p.(Arg54His) NC_000009.12:122614897:G:A Identity +NM_014963.3:c.185C>T NP_055778.2:p.Ala62Val NC_000019.10:1147402:G:A p.(Ala62Val) NC_000019.10:1147402:G:A p.(Ala62Val) NC_000019.10:1147402:G:A Identity +NM_001281520.2:c.1096A>C NP_001268449.1:p.Lys366Gln NC_000020.11:5967897:A:C p.(Lys366Gln) NC_000020.11:5967897:A:C p.(Lys366Gln) NC_000020.11:5967897:A:C Identity +NM_017623.5:c.1711G>A NP_060093.3:p.Gly571Arg NC_000002.12:96828119:G:A p.(Gly571Arg) NC_000002.12:96828119:G:A p.(Gly571Arg) NC_000002.12:96828119:G:A Identity +NM_001897.5:c.521C>T NP_001888.2:p.Thr174Ile NC_000015.10:75690543:G:A p.(Thr174Ile) NC_000015.10:75690543:G:A p.(Thr174Ile) NC_000015.10:75690543:G:A Identity +NM_139056.4:c.543G>T NP_620687.2:p.Arg181Ser NC_000005.10:5182084:G:T p.(Arg181Ser) NC_000005.10:5182084:G:T p.(Arg181Ser) NC_000005.10:5182084:G:T Identity +NM_033395.2:c.6121C>G NP_203753.1:p.His2041Asp NC_000011.10:93723213:C:G p.(His2041Asp) NC_000011.10:93723213:C:G p.(His2041Asp) NC_000011.10:93723213:C:G Identity +NM_001077593.1:c.1069C>T NP_001071061.1:p.His357Tyr NC_000008.11:66457072:C:T ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found ERR:AlignmentMapper(tx_ac=NM_001077593.1, alt_ac=NM_001077593.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077593.1, alt_ac=NM_001077593.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found +NM_001146191.2:c.117A>C NP_001139663.1:p.Glu39Asp NC_000001.11:167765607:A:C p.(Glu39Asp) NC_000001.11:167765607:A:C p.(Glu39Asp) NC_000001.11:167765607:A:C Identity +NM_001130158.3:c.2215A>G NP_001123630.1:p.Arg739Gly NC_000002.12:191393210:A:G p.(Arg739Gly) NC_000002.12:191393210:A:G p.(Arg739Gly) NC_000002.12:191393210:A:G Identity +NM_032505.3:c.1348T>C NP_115894.2:p.Phe450Leu NC_000003.12:67007926:T:C p.(Phe450Leu) NC_000003.12:67007926:T:C p.(Phe450Leu) NC_000003.12:67007926:T:C Identity +NM_020987.5:c.5128C>A NP_066267.2:p.His1710Asn NC_000010.11:60075752:G:T p.(His1710Asn) NC_000010.11:60075752:G:T p.(His1710Asn) NC_000010.11:60075752:G:T Identity +NM_001136023.3:c.77T>C NP_001129495.1:p.Leu26Pro NC_000012.12:54295171:A:G p.(Leu26Pro) NC_000012.12:54295171:A:G p.(Leu26Pro) NC_000012.12:54295171:A:G Identity +NM_001008272.2:c.125T>G NP_001008273.1:p.Ile42Arg NC_000003.12:111999546:T:G p.(Ile42Arg) NC_000003.12:111999546:T:G p.(Ile42Arg) NC_000003.12:111999546:T:G Identity +NM_001105540.2:c.2479C>G NP_001099010.1:p.Gln827Glu NC_000011.10:46375854:C:G p.(Gln827Glu) NC_000011.10:46375854:C:G p.(Gln827Glu) NC_000011.10:46375854:C:G Identity +NM_001330504.2:c.1057A>C NP_001317433.1:p.Thr353Pro NC_000016.10:5084875:A:C p.(Thr353Pro) NC_000016.10:5084875:A:C p.(Thr353Pro) NC_000016.10:5084875:A:C Identity +NM_206996.4:c.655G>A NP_996879.1:p.Ala219Thr NC_000001.11:118099779:C:T p.(Ala219Thr) NC_000001.11:118099779:C:T p.(Ala219Thr) NC_000001.11:118099779:C:T Identity +NM_001134493.2:c.218G>A NP_001127965.1:p.Gly73Glu NC_000006.12:41789320:G:A p.(Gly73Glu) NC_000006.12:41789320:G:A p.(Gly73Glu) NC_000006.12:41789320:G:A Identity +NM_001369762.1:c.141G>C NP_001356691.1:p.Gln47His NC_000019.10:52801544:C:G p.(Gln47His) NC_000019.10:52801544:C:G p.(Gln47His) NC_000019.10:52801544:C:G Identity +NM_001127397.3:c.895A>G NP_001120869.1:p.Thr299Ala NC_000002.12:53808313:A:G p.(Thr299Ala) NC_000002.12:53808313:A:G p.(Thr299Ala) NC_000002.12:53808313:A:G Identity +NM_001005850.3:c.247T>C NP_001005850.2:p.Cys83Arg NC_000019.10:56664951:A:G p.(Cys83Arg) NC_000019.10:56664951:A:G p.(Cys83Arg) NC_000019.10:56664951:A:G Identity +NM_032451.2:c.769G>A NP_115827.1:p.Val257Met NC_000016.10:89854528:G:A p.(Val257Met) NC_000016.10:89854528:G:A p.(Val257Met) NC_000016.10:89854528:G:A Identity +NM_001301161.2:c.799C>T NP_001288090.1:p.Pro267Ser NC_000007.14:106012869:C:T p.(Pro267Ser) NC_000007.14:106012869:C:T p.(Pro267Ser) NC_000007.14:106012869:C:T Identity +NM_000889.3:c.1526G>A NP_000880.1:p.Arg509Gln NC_000012.12:53193339:C:T p.(Arg509Gln) NC_000012.12:53193339:C:T p.(Arg509Gln) NC_000012.12:53193339:C:T Identity +NM_021149.5:c.262G>A NP_066972.1:p.Gly88Arg NC_000016.10:84590160:C:T p.(Gly88Arg) NC_000016.10:84590160:C:T p.(Gly88Arg) NC_000016.10:84590160:C:T Identity +NM_023946.5:c.70C>T NP_076435.1:p.His24Tyr NC_000008.11:142775676:G:A p.(His24Tyr) NC_000008.11:142775676:G:A p.(His24Tyr) NC_000008.11:142775676:G:A Identity +NM_000081.4:c.6551A>G NP_000072.2:p.Gln2184Arg NC_000001.11:235759301:T:C p.(Gln2184Arg) NC_000001.11:235759301:T:C p.(Gln2184Arg) NC_000001.11:235759301:T:C Identity +NM_152739.4:c.125C>G NP_689952.1:p.Ala42Gly NC_000007.14:27165332:G:C p.(Ala42Gly) NC_000007.14:27165332:G:C p.(Ala42Gly) NC_000007.14:27165332:G:C Identity +NM_001374299.1:c.467T>C NP_001361228.1:p.Met156Thr NC_000009.12:92286547:A:G p.(Met156Thr) NC_000009.12:92286547:A:G p.(Met156Thr) NC_000009.12:92286547:A:G Identity +NM_001161476.3:c.113A>G NP_001154948.1:p.Asp38Gly NC_000014.9:100381036:A:G p.(Asp38Gly) NC_000014.9:100381036:A:G p.(Asp38Gly) NC_000014.9:100381036:A:G Identity +NM_001012967.3:c.3973G>C NP_001012985.2:p.Asp1325His NC_000004.12:168384754:C:G p.(Asp1325His) NC_000004.12:168384754:C:G p.(Asp1325His) NC_000004.12:168384754:C:G Identity +NM_001003891.3:c.331G>A NP_001003891.1:p.Gly111Ser NC_000022.11:20555027:G:A p.(Gly111Ser) NC_000022.11:20555027:G:A p.(Gly111Ser) NC_000022.11:20555027:G:A Identity +NM_001012753.2:c.355A>C NP_001012771.1:p.Ile119Leu NC_000019.10:11978269:A:C p.(Ile119Leu) NC_000019.10:11978269:A:C p.(Ile119Leu) NC_000019.10:11978269:A:C Identity +NM_002033.4:c.265A>T NP_002024.1:p.Ser89Cys NC_000011.10:94544397:A:T p.(Ser89Cys) NC_000011.10:94544397:A:T p.(Ser89Cys) NC_000011.10:94544397:A:T Identity +NM_015378.4:c.6005G>A NP_056193.2:p.Arg2002His NC_000001.11:12293675:G:A p.(Arg2002His) NC_000001.11:12293675:G:A p.(Arg2002His) NC_000001.11:12293675:G:A Identity +NM_007255.3:c.175C>T NP_009186.1:p.Arg59Trp NC_000005.10:177604302:C:T p.(Arg59Trp) NC_000005.10:177604302:C:T p.(Arg59Trp) NC_000005.10:177604302:C:T Identity +NM_001144827.2:c.40C>T NP_001138299.1:p.Arg14Trp NC_000011.10:126211598:G:A p.(Arg14Trp) NC_000011.10:126211598:G:A p.(Arg14Trp) NC_000011.10:126211598:G:A Identity +NM_017759.5:c.383G>C NP_060229.3:p.Gly128Ala NC_000002.12:206056778:C:G p.(Gly128Ala) NC_000002.12:206056778:C:G p.(Gly128Ala) NC_000002.12:206056778:C:G Identity +NM_019606.6:c.184G>A NP_062552.2:p.Ala62Thr NC_000007.14:100430201:G:A p.(Ala62Thr) NC_000007.14:100430201:G:A p.(Ala62Thr) NC_000007.14:100430201:G:A Identity +NM_001289111.2:c.382G>A NP_001276040.1:p.Gly128Arg NC_000006.12:111015830:G:A p.(Gly128Arg) NC_000006.12:111015830:G:A p.(Gly128Arg) NC_000006.12:111015830:G:A Identity +NM_001081.4:c.8471A>G NP_001072.2:p.Asn2824Ser NC_000010.11:16899122:T:C p.(Asn2824Ser) NC_000010.11:16899122:T:C p.(Asn2824Ser) NC_000010.11:16899122:T:C Identity +NM_001115016.3:c.1909C>G NP_001108488.1:p.Pro637Ala NC_000002.12:96605343:G:C p.(Pro637Ala) NC_000002.12:96605343:G:C p.(Pro637Ala) NC_000002.12:96605343:G:C Identity +NM_182542.3:c.1797G>T NP_872348.2:p.Arg599Ser NC_000013.11:45544834:C:A p.(Arg599Ser) NC_000013.11:45544834:C:A p.(Arg599Ser) NC_000013.11:45544834:C:A Identity +NM_004539.4:c.1601G>A NP_004530.1:p.Arg534Gln NC_000018.10:57601697:C:T p.(Arg534Gln) NC_000018.10:57601697:C:T p.(Arg534Gln) NC_000018.10:57601697:C:T Identity +NM_001280788.2:c.467C>T NP_001267717.1:p.Thr156Ile NC_000009.12:133364870:G:A p.(Thr156Ile) NC_000009.12:133364870:G:A p.(Thr156Ile) NC_000009.12:133364870:G:A Identity +NM_003632.3:c.136C>A NP_003623.1:p.Leu46Ile NC_000017.11:42683888:C:A p.(Leu46Ile) NC_000017.11:42683888:C:A p.(Leu46Ile) NC_000017.11:42683888:C:A Identity +NM_001142443.3:c.1169G>C NP_001135915.1:p.Gly390Ala NC_000015.10:74635431:C:G p.(Gly390Ala) NC_000015.10:74635431:C:G p.(Gly390Ala) NC_000015.10:74635431:C:G Identity +NM_175875.5:c.1934C>G NP_787071.3:p.Pro645Arg NC_000019.10:45765786:G:C p.(Pro645Arg) NC_000019.10:45765786:G:C p.(Pro645Arg) NC_000019.10:45765786:G:C Identity +NM_001317808.2:c.56A>G NP_001304737.1:p.Gln19Arg NC_000003.12:26709727:A:G p.(Gln19Arg) NC_000003.12:26709727:A:G p.(Gln19Arg) NC_000003.12:26709727:A:G Identity +NM_001318099.2:c.1205G>A NP_001305028.1:p.Arg402Gln NC_000010.11:101005593:G:A p.(Arg402Gln) NC_000010.11:101005593:G:A p.(Arg402Gln) NC_000010.11:101005593:G:A Identity +NM_015123.3:c.2296T>A NP_055938.2:p.Ser766Thr NC_000003.12:69181453:A:T p.(Ser766Thr) NC_000003.12:69181453:A:T p.(Ser766Thr) NC_000003.12:69181453:A:T Identity +NM_001311313.2:c.409C>T NP_001298242.1:p.Leu137Phe NC_000005.10:76732996:C:T p.(Leu137Phe) NC_000005.10:76732996:C:T p.(Leu137Phe) NC_000005.10:76732996:C:T Identity +NM_001369699.1:c.143C>T NP_001356628.1:p.Pro48Leu NC_000019.10:38900174:C:T p.(Pro48Leu) NC_000019.10:38900174:C:T p.(Pro48Leu) NC_000019.10:38900174:C:T Identity +NM_001318229.2:c.1744A>G NP_001305158.1:p.Met582Val NC_000007.14:105613941:T:C p.(Met582Val) NC_000007.14:105613941:T:C p.(Met582Val) NC_000007.14:105613941:T:C Identity +NM_173352.4:c.304C>T NP_775487.2:p.Pro102Ser NC_000012.12:52848626:G:A p.(Pro102Ser) NC_000012.12:52848626:G:A p.(Pro102Ser) NC_000012.12:52848626:G:A Identity +NM_173535.3:c.1709C>T NP_775806.2:p.Ser570Phe NC_000002.12:70809331:G:A p.(Ser570Phe) NC_000002.12:70809331:G:A p.(Ser570Phe) NC_000002.12:70809331:G:A Identity +NM_001243539.2:c.553G>A NP_001230468.1:p.Val185Met NC_000010.11:5956409:C:T p.(Val185Met) NC_000010.11:5956409:C:T p.(Val185Met) NC_000010.11:5956409:C:T Identity +NM_001288808.2:c.368G>A NP_001275737.1:p.Arg123Gln NC_000008.11:143693889:G:A p.(Arg123Gln) NC_000008.11:143693889:G:A p.(Arg123Gln) NC_000008.11:143693889:G:A Identity +NM_020338.4:c.1457G>C NP_065071.1:p.Ser486Thr NC_000010.11:79297655:G:C p.(Ser486Thr) NC_000010.11:79297655:G:C p.(Ser486Thr) NC_000010.11:79297655:G:C Identity +NM_001102610.2:c.1075A>G NP_001096080.1:p.Arg359Gly NC_000015.10:23024039:T:C p.(Arg359Gly) NC_000015.10:23024039:T:C p.(Arg359Gly) NC_000015.10:23024039:T:C Identity +NM_001168316.2:c.757A>G NP_001161788.1:p.Ile253Val NC_000005.10:36039692:T:C p.(Ile253Val) NC_000005.10:36039692:T:C p.(Ile253Val) NC_000005.10:36039692:T:C Identity +NM_001354078.1:c.254A>T NP_001341007.1:p.Asp85Val NC_000016.10:57172344:T:A p.(Asp85Val) NC_000016.10:57172344:T:A p.(Asp85Val) NC_000016.10:57172344:T:A Identity +NM_002928.4:c.539T>C NP_002919.3:p.Leu180Pro NC_000001.11:182600361:A:G p.(Leu180Pro) NC_000001.11:182600361:A:G p.(Leu180Pro) NC_000001.11:182600361:A:G Identity +NM_024852.4:c.1427G>A NP_079128.2:p.Arg476His NC_000001.11:36027133:G:A p.(Arg476His) NC_000001.11:36027133:G:A p.(Arg476His) NC_000001.11:36027133:G:A Identity +NM_015547.4:c.1016G>A NP_056362.1:p.Arg339Gln NC_000001.11:54601399:G:A p.(Arg339Gln) NC_000001.11:54601399:G:A p.(Arg339Gln) NC_000001.11:54601399:G:A Identity +NM_198123.2:c.1072G>C NP_937756.1:p.Glu358Gln NC_000008.11:112976106:C:G p.(Glu358Gln) NC_000008.11:112976106:C:G p.(Glu358Gln) NC_000008.11:112976106:C:G Identity +NM_001122819.3:c.625C>T NP_001116291.1:p.Arg209Cys NC_000001.11:20709683:G:A p.(Arg209Cys) NC_000001.11:20709683:G:A p.(Arg209Cys) NC_000001.11:20709683:G:A Identity +NM_006910.5:c.2833A>G NP_008841.2:p.Ser945Gly NC_000016.10:24569522:A:G p.(Ser945Gly) NC_000016.10:24569522:A:G p.(Ser945Gly) NC_000016.10:24569522:A:G Identity +NM_001371271.1:c.605G>C NP_001358200.1:p.Ser202Thr NC_000002.12:120955391:G:C p.(Ser202Thr) NC_000002.12:120955391:G:C p.(Ser202Thr) NC_000002.12:120955391:G:C Identity +NM_024313.3:c.122G>A NP_077289.1:p.Arg41Gln NC_000022.11:37687947:G:A p.(Arg41Gln) NC_000022.11:37687947:G:A p.(Arg41Gln) NC_000022.11:37687947:G:A Identity +NM_001011664.2:c.440A>G NP_001011664.1:p.Gln147Arg NC_000015.10:64216565:T:C ERR:Data provider error: ValueError: Transcript NM_001011664.2 not found ERR:Data provider error: ValueError: Transcript NM_001011664.2 not found ERR:AlignmentMapper(tx_ac=NM_001011664.2, alt_ac=NM_001011664.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001011664.2, alt_ac=NM_001011664.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001011664.2 not found +NM_001321291.2:c.418T>G NP_001308220.1:p.Leu140Val NC_000017.11:78835336:A:C p.(Leu140Val) NC_000017.11:78835336:A:C p.(Leu140Val) NC_000017.11:78835336:A:C Identity +NM_001177675.2:c.520G>C NP_001171146.1:p.Gly174Arg NC_000022.11:43886389:C:G p.(Gly174Arg) NC_000022.11:43886389:C:G p.(Gly174Arg) NC_000022.11:43886389:C:G Identity +NM_001416292.1:c.73G>A NP_001403221.1:p.Gly25Arg NC_000001.11:51617128:G:A p.(Gly25Arg) NC_000001.11:51617128:G:A p.(Gly25Arg) NC_000001.11:51617128:G:A Identity +NM_001142568.3:c.871C>T NP_001136040.1:p.Arg291Cys NC_000003.12:107755642:C:T p.(Arg291Cys) NC_000003.12:107755642:C:T p.(Arg291Cys) NC_000003.12:107755642:C:T Identity +NM_006910.5:c.283G>A NP_008841.2:p.Ala95Thr NC_000016.10:24548960:G:A p.(Ala95Thr) NC_000016.10:24548960:G:A p.(Ala95Thr) NC_000016.10:24548960:G:A Identity +NM_001105565.3:c.904A>G NP_001099035.2:p.Ser302Gly NC_000011.10:57543906:A:G p.(Ser302Gly) NC_000011.10:57543906:A:G p.(Ser302Gly) NC_000011.10:57543906:A:G Identity +NM_000522.5:c.193G>A NP_000513.2:p.Ala65Thr NC_000007.14:27199884:C:T p.(Ala65Thr) NC_000007.14:27199884:C:T p.(Ala65Thr) NC_000007.14:27199884:C:T Identity +NM_176822.4:c.454C>T NP_789792.1:p.His152Tyr NC_000011.10:7042479:C:T p.(His152Tyr) NC_000011.10:7042479:C:T p.(His152Tyr) NC_000011.10:7042479:C:T Identity +NM_001136050.3:c.914T>C NP_001129522.1:p.Ile305Thr NC_000014.9:24290886:A:G p.(Ile305Thr) NC_000014.9:24290886:A:G p.(Ile305Thr) NC_000014.9:24290886:A:G Identity +NM_001017388.3:c.2218A>G NP_001017388.1:p.Thr740Ala NC_000004.12:38773372:T:C p.(Thr740Ala) NC_000004.12:38773372:T:C p.(Thr740Ala) NC_000004.12:38773372:T:C Identity +NM_001130527.3:c.1583C>T NP_001123999.1:p.Pro528Leu NC_000017.11:50999699:G:A p.(Pro528Leu) NC_000017.11:50999699:G:A p.(Pro528Leu) NC_000017.11:50999699:G:A Identity +NM_001204103.2:c.343C>A NP_001191032.1:p.Leu115Ile NC_000006.12:32155692:C:A p.(Leu115Ile) NC_000006.12:32155692:C:A p.(Leu115Ile) NC_000006.12:32155692:C:A Identity +NM_001321350.2:c.193G>A NP_001308279.1:p.Val65Ile NC_000017.11:32021584:G:A p.(Val65Ile) NC_000017.11:32021584:G:A p.(Val65Ile) NC_000017.11:32021584:G:A Identity +NM_014208.3:c.3135C>A NP_055023.2:p.Ser1045Arg NC_000004.12:87615796:C:A p.(Ser1045Arg) NC_000004.12:87615796:C:A p.(Ser1045Arg) NC_000004.12:87615796:C:A Identity +NM_138286.3:c.1383G>C NP_612143.2:p.Gln461His NC_000019.10:23744166:C:G p.(Gln461His) NC_000019.10:23744166:C:G p.(Gln461His) NC_000019.10:23744166:C:G Identity +NM_033036.3:c.974G>A NP_149025.1:p.Arg325His NC_000011.10:66042828:C:T p.(Arg325His) NC_000011.10:66042828:C:T p.(Arg325His) NC_000011.10:66042828:C:T Identity +NM_001243689.2:c.988A>G NP_001230618.1:p.Ile330Val NC_000012.12:51058064:A:G p.(Ile330Val) NC_000012.12:51058064:A:G p.(Ile330Val) NC_000012.12:51058064:A:G Identity +NM_000296.4:c.4870A>G NP_000287.4:p.Ile1624Val NC_000016.10:2110296:T:C p.(Ile1624Val) NC_000016.10:2110296:T:C p.(Ile1624Val) NC_000016.10:2110296:T:C Identity +NM_000846.5:c.445G>T NP_000837.3:p.Val149Phe NC_000006.12:52751677:C:A p.(Val149Phe) NC_000006.12:52751677:C:A p.(Val149Phe) NC_000006.12:52751677:C:A Identity +NM_001256126.2:c.598A>G NP_001243055.1:p.Ile200Val NC_000002.12:168695039:A:G p.(Ile200Val) NC_000002.12:168695039:A:G p.(Ile200Val) NC_000002.12:168695039:A:G Identity +NM_002033.4:c.1294C>T NP_002024.1:p.Leu432Phe NC_000011.10:94545426:C:T p.(Leu432Phe) NC_000011.10:94545426:C:T p.(Leu432Phe) NC_000011.10:94545426:C:T Identity +NM_000139.5:c.92A>C NP_000130.1:p.Gln31Pro NC_000011.10:60089726:A:C p.(Gln31Pro) NC_000011.10:60089726:A:C p.(Gln31Pro) NC_000011.10:60089726:A:C Identity +NM_022789.4:c.92A>C NP_073626.1:p.His31Pro NC_000014.9:23373209:A:C p.(His31Pro) NC_000014.9:23373209:A:C p.(His31Pro) NC_000014.9:23373209:A:C Identity +NM_152307.3:c.676T>C NP_689520.2:p.Ser226Pro NC_000014.9:103534626:T:C p.(Ser226Pro) NC_000014.9:103534626:T:C p.(Ser226Pro) NC_000014.9:103534626:T:C Identity +NM_001320979.1:c.443C>A NP_001307908.1:p.Pro148Gln NC_000001.11:19308497:G:T p.(Pro148Gln) NC_000001.11:19308497:G:T p.(Pro148Gln) NC_000001.11:19308497:G:T Identity +NM_001346445.2:c.4694C>G NP_001333374.1:p.Pro1565Arg NC_000011.10:62529722:G:C p.(Pro1565Arg) NC_000011.10:62529722:G:C p.(Pro1565Arg) NC_000011.10:62529722:G:C Identity +NM_001033113.2:c.269C>G NP_001028285.1:p.Ser90Cys NC_000009.12:137437284:G:C p.(Ser90Cys) NC_000009.12:137437284:G:C p.(Ser90Cys) NC_000009.12:137437284:G:C Identity +NM_138455.4:c.5G>T NP_612464.1:p.Arg2Leu NC_000008.11:103371660:G:T p.(Arg2Leu) NC_000008.11:103371660:G:T p.(Arg2Leu) NC_000008.11:103371660:G:T Identity +NM_001283018.2:c.589A>G NP_001269947.1:p.Met197Val NC_000020.11:23381301:T:C p.(Met197Val) NC_000020.11:23381301:T:C p.(Met197Val) NC_000020.11:23381301:T:C Identity +NM_015192.4:c.898A>G NP_056007.1:p.Ser300Gly NC_000020.11:8684966:A:G p.(Ser300Gly) NC_000020.11:8684966:A:G p.(Ser300Gly) NC_000020.11:8684966:A:G Identity +NM_134444.5:c.535C>T NP_604393.2:p.Arg179Trp NC_000019.10:55857927:C:T p.(Arg179Trp) NC_000019.10:55857927:C:T p.(Arg179Trp) NC_000019.10:55857927:C:T Identity +NM_001350929.2:c.15238G>A NP_001337858.1:p.Ala5080Thr NC_000014.9:104939912:C:T p.(Ala5080Thr) NC_000014.9:104939912:C:T p.(Ala5080Thr) NC_000014.9:104939912:C:T Identity +NM_001321560.2:c.3370C>T NP_001308489.1:p.Pro1124Ser NC_000017.11:28633643:G:A p.(Pro1124Ser) NC_000017.11:28633643:G:A p.(Pro1124Ser) NC_000017.11:28633643:G:A Identity +NM_001308068.2:c.442C>T NP_001294997.1:p.Arg148Cys NC_000016.10:2930525:C:T p.(Arg148Cys) NC_000016.10:2930525:C:T p.(Arg148Cys) NC_000016.10:2930525:C:T Identity +NM_001077206.4:c.2432A>G NP_001070674.1:p.Lys811Arg NC_000004.12:82848873:T:C p.(Lys811Arg) NC_000004.12:82848873:T:C p.(Lys811Arg) NC_000004.12:82848873:T:C Identity +NM_001330769.1:c.970A>G NP_001317698.1:p.Asn324Asp NC_000012.12:18688130:T:C p.(Asn324Asp) NC_000012.12:18688130:T:C p.(Asn324Asp) NC_000012.12:18688130:T:C Identity +NM_001378620.1:c.20T>C NP_001365549.1:p.Leu7Pro NC_000014.9:92323849:T:C p.(Leu7Pro) NC_000014.9:92323849:T:C p.(Leu7Pro) NC_000014.9:92323849:T:C Identity +NM_001291860.2:c.6466C>T NP_001278789.1:p.Arg2156Cys NC_000001.11:21853046:G:A p.(Arg2156Cys) NC_000001.11:21853046:G:A p.(Arg2156Cys) NC_000001.11:21853046:G:A Identity +NM_001286365.2:c.1105C>T NP_001273294.1:p.Arg369Trp NC_000001.11:36176563:C:T p.(Arg369Trp) NC_000001.11:36176563:C:T p.(Arg369Trp) NC_000001.11:36176563:C:T Identity +NM_001129884.3:c.671C>T NP_001123356.1:p.Thr224Met NC_000003.12:51703744:C:T p.(Thr224Met) NC_000003.12:51703744:C:T p.(Thr224Met) NC_000003.12:51703744:C:T Identity +NM_001161661.2:c.1760A>G NP_001155133.1:p.Glu587Gly NC_000005.10:168424017:A:G p.(Glu587Gly) NC_000005.10:168424017:A:G p.(Glu587Gly) NC_000005.10:168424017:A:G Identity +NM_001282428.2:c.932G>A NP_001269357.1:p.Arg311Gln NC_000002.12:17931939:G:A p.(Arg311Gln) NC_000002.12:17931939:G:A p.(Arg311Gln) NC_000002.12:17931939:G:A Identity +NM_001384900.1:c.1517T>C NP_001371829.1:p.Ile506Thr NC_000007.14:85018279:A:G p.(Ile506Thr) NC_000007.14:85018279:A:G p.(Ile506Thr) NC_000007.14:85018279:A:G Identity +NM_030772.5:c.942T>A NP_110399.2:p.Ser314Arg NC_000001.11:38875156:A:T p.(Ser314Arg) NC_000001.11:38875156:A:T p.(Ser314Arg) NC_000001.11:38875156:A:T Identity +NM_001098623.2:c.1784T>A NP_001092093.2:p.Phe595Tyr NC_000001.11:228215053:T:A p.(Phe595Tyr) NC_000001.11:228215053:T:A p.(Phe595Tyr) NC_000001.11:228215053:T:A Identity +NM_032242.4:c.3097G>A NP_115618.3:p.Ala1033Thr NC_000003.12:127016598:G:A p.(Ala1033Thr) NC_000003.12:127016598:G:A p.(Ala1033Thr) NC_000003.12:127016598:G:A Identity +NM_001410858.1:c.5881C>G NP_001397787.1:p.Leu1961Val NC_000018.10:45878436:G:C p.(Leu1961Val) NC_000018.10:45878436:G:C p.(Leu1961Val) NC_000018.10:45878436:G:C Identity +NM_001330990.2:c.2791G>A NP_001317919.1:p.Glu931Lys NC_000003.12:47849024:G:A p.(Glu931Lys) NC_000003.12:47849024:G:A p.(Glu931Lys) NC_000003.12:47849024:G:A Identity +NM_001002257.3:c.1046T>C NP_001002257.1:p.Ile349Thr NC_000002.12:30640533:T:C p.(Ile349Thr) NC_000002.12:30640533:T:C p.(Ile349Thr) NC_000002.12:30640533:T:C Identity +NM_015657.4:c.1910G>T NP_056472.2:p.Ser637Ile NC_000002.12:215001019:C:A p.(Ser637Ile) NC_000002.12:215001019:C:A p.(Ser637Ile) NC_000002.12:215001019:C:A Identity +NM_001346445.2:c.1522A>C NP_001333374.1:p.Ser508Arg NC_000011.10:62532894:T:G p.(Ser508Arg) NC_000011.10:62532894:T:G p.(Ser508Arg) NC_000011.10:62532894:T:G Identity +NM_001367484.1:c.1898T>C NP_001354413.1:p.Leu633Pro NC_000001.11:53510012:A:G p.(Leu633Pro) NC_000001.11:53510012:A:G p.(Leu633Pro) NC_000001.11:53510012:A:G Identity +NM_001080452.2:c.604T>C NP_001073921.1:p.Ser202Pro NC_000019.10:6733858:A:G p.(Ser202Pro) NC_000019.10:6733858:A:G p.(Ser202Pro) NC_000019.10:6733858:A:G Identity +NM_001322284.2:c.1850G>A NP_001309213.1:p.Arg617Gln NC_000019.10:52033828:C:T p.(Arg617Gln) NC_000019.10:52033828:C:T p.(Arg617Gln) NC_000019.10:52033828:C:T Identity +NM_001007267.3:c.2064G>A NP_001007268.1:p.Met688Ile NC_000002.12:159984046:C:T p.(Met688Ile) NC_000002.12:159984046:C:T p.(Met688Ile) NC_000002.12:159984046:C:T Identity +NM_001206927.2:c.4262T>A NP_001193856.1:p.Phe1421Tyr NC_000006.12:38832394:T:A p.(Phe1421Tyr) NC_000006.12:38832394:T:A p.(Phe1421Tyr) NC_000006.12:38832394:T:A Identity +NM_001345868.2:c.286G>T NP_001332797.1:p.Asp96Tyr NC_000004.12:44680701:G:T p.(Asp96Tyr) NC_000004.12:44680701:G:T p.(Asp96Tyr) NC_000004.12:44680701:G:T Identity +NM_001286990.2:c.137A>G NP_001273919.1:p.Lys46Arg NC_000009.12:96383497:T:C p.(Lys46Arg) NC_000009.12:96383497:T:C p.(Lys46Arg) NC_000009.12:96383497:T:C Identity +NM_001308230.2:c.1298C>T NP_001295159.1:p.Thr433Ile NC_000016.10:28831048:C:T p.(Thr433Ile) NC_000016.10:28831048:C:T p.(Thr433Ile) NC_000016.10:28831048:C:T Identity +NM_001308339.2:c.377A>G NP_001295268.1:p.Gln126Arg NC_000012.12:31480220:T:C p.(Gln126Arg) NC_000012.12:31480220:T:C p.(Gln126Arg) NC_000012.12:31480220:T:C Identity +NM_001199281.1:c.6239G>C NP_001186210.1:p.Gly2080Ala NC_000022.11:24177536:G:C p.(Gly2080Ala) NC_000022.11:24177536:G:C p.(Gly2080Ala) NC_000022.11:24177536:G:C Identity +NM_001145853.1:c.1892C>G NP_001139325.1:p.Ser631Cys NC_000004.12:6301686:C:G p.(Ser631Cys) NC_000004.12:6301686:C:G p.(Ser631Cys) NC_000004.12:6301686:C:G Identity +NM_001371403.1:c.1147A>T NP_001358332.1:p.Ile383Phe NC_000004.12:89934826:A:T p.(Ile383Phe) NC_000004.12:89934826:A:T p.(Ile383Phe) NC_000004.12:89934826:A:T Identity +NM_001143957.3:c.788T>C NP_001137429.1:p.Met263Thr NC_000006.12:96798943:A:G p.(Met263Thr) NC_000006.12:96798943:A:G p.(Met263Thr) NC_000006.12:96798943:A:G Identity +NM_001034915.3:c.1094C>G NP_001030087.2:p.Pro365Arg NC_000008.11:94668110:C:G p.(Pro365Arg) NC_000008.11:94668110:C:G p.(Pro365Arg) NC_000008.11:94668110:C:G Identity +NM_207371.4:c.1660A>G NP_997254.3:p.Thr554Ala NC_000010.11:21516162:T:C p.(Thr554Ala) NC_000010.11:21516162:T:C p.(Thr554Ala) NC_000010.11:21516162:T:C Identity +NM_001080416.4:c.961T>C NP_001073885.1:p.Phe321Leu NC_000008.11:66580272:A:G p.(Phe321Leu) NC_000008.11:66580272:A:G p.(Phe321Leu) NC_000008.11:66580272:A:G Identity +NM_004913.3:c.1774G>A NP_004904.2:p.Ala592Thr NC_000016.10:89708454:C:T p.(Ala592Thr) NC_000016.10:89708454:C:T p.(Ala592Thr) NC_000016.10:89708454:C:T Identity +NM_001081640.2:c.2808C>G NP_001075109.1:p.Ser936Arg NC_000008.11:47912535:G:C p.(Ser936Arg) NC_000008.11:47912535:G:C p.(Ser936Arg) NC_000008.11:47912535:G:C Identity +NM_018902.5:c.358A>G NP_061725.1:p.Asn120Asp NC_000005.10:140869460:A:G p.(Asn120Asp) NC_000005.10:140869460:A:G p.(Asn120Asp) NC_000005.10:140869460:A:G Identity +NM_000264.5:c.1555G>T NP_000255.2:p.Ala519Ser NC_000009.12:95476805:C:A p.(Ala519Ser) NC_000009.12:95476805:C:A p.(Ala519Ser) NC_000009.12:95476805:C:A Identity +NM_001081640.2:c.2981G>T NP_001075109.1:p.Trp994Leu NC_000008.11:47904929:C:A p.(Trp994Leu) NC_000008.11:47904929:C:A p.(Trp994Leu) NC_000008.11:47904929:C:A Identity +NM_002016.2:c.4766G>A NP_002007.1:p.Arg1589His NC_000001.11:152310119:C:T p.(Arg1589His) NC_000001.11:152310119:C:T p.(Arg1589His) NC_000001.11:152310119:C:T Identity +NM_001160213.2:c.2645G>A NP_001153685.1:p.Cys882Tyr NC_000016.10:72119341:C:T p.(Cys882Tyr) NC_000016.10:72119341:C:T p.(Cys882Tyr) NC_000016.10:72119341:C:T Identity +NM_001073.3:c.181T>A NP_001064.1:p.Ser61Thr NC_000004.12:69214541:A:T p.(Ser61Thr) NC_000004.12:69214541:A:T p.(Ser61Thr) NC_000004.12:69214541:A:T Identity +NM_001278616.2:c.2888A>C NP_001265545.1:p.Asn963Thr NC_000002.12:110641040:T:G p.(Asn963Thr) NC_000002.12:110641040:T:G p.(Asn963Thr) NC_000002.12:110641040:T:G Identity +NM_012464.5:c.2270G>A NP_036596.3:p.Arg757His NC_000004.12:166074958:G:A p.(Arg757His) NC_000004.12:166074958:G:A p.(Arg757His) NC_000004.12:166074958:G:A Identity +NM_001363718.1:c.329C>T NP_001350647.1:p.Thr110Met NC_000020.11:63244040:G:A p.(Thr110Met) NC_000020.11:63244040:G:A p.(Thr110Met) NC_000020.11:63244040:G:A Identity +NM_001278524.2:c.1016G>A NP_001265453.1:p.Arg339Lys NC_000010.11:96157337:G:A p.(Arg339Lys) NC_000010.11:96157337:G:A p.(Arg339Lys) NC_000010.11:96157337:G:A Identity +NM_001136265.2:c.1208T>A NP_001129737.1:p.Ile403Asn NC_000001.11:18911978:A:T p.(Ile403Asn) NC_000001.11:18911978:A:T p.(Ile403Asn) NC_000001.11:18911978:A:T Identity +NM_001173516.1:c.42G>C NP_001166987.1:p.Lys14Asn NC_000023.11:136246315:C:G p.(Lys14Asn) NC_000023.11:136246315:C:G p.(Lys14Asn) NC_000023.11:136246315:C:G Identity +NM_001004059.3:c.610A>T NP_001004059.2:p.Ile204Phe NC_000011.10:55651512:A:T p.(Ile204Phe) NC_000011.10:55651512:A:T p.(Ile204Phe) NC_000011.10:55651512:A:T Identity +NM_001368719.1:c.143A>C NP_001355648.1:p.Gln48Pro NC_000015.10:32730832:A:C p.(Gln48Pro) NC_000015.10:32730832:A:C p.(Gln48Pro) NC_000015.10:32730832:A:C Identity +NM_016065.4:c.388A>G NP_057149.1:p.Thr130Ala NC_000010.11:73250877:T:C p.(Thr130Ala) NC_000010.11:73250877:T:C p.(Thr130Ala) NC_000010.11:73250877:T:C Identity +NM_001114.5:c.1701T>A NP_001105.1:p.Asp567Glu NC_000016.10:50305797:T:A p.(Asp567Glu) NC_000016.10:50305797:T:A p.(Asp567Glu) NC_000016.10:50305797:T:A Identity +NM_001242385.2:c.1354A>G NP_001229314.1:p.Thr452Ala NC_000006.12:10784534:T:C p.(Thr452Ala) NC_000006.12:10784534:T:C p.(Thr452Ala) NC_000006.12:10784534:T:C Identity +NM_001033551.3:c.1192G>T NP_001028723.1:p.Gly398Cys NC_000017.11:17848855:C:A p.(Gly398Cys) NC_000017.11:17848855:C:A p.(Gly398Cys) NC_000017.11:17848855:C:A Identity +NM_001297615.2:c.329C>T NP_001284544.1:p.Ser110Leu NC_000004.12:69495532:G:A p.(Ser110Leu) NC_000004.12:69495532:G:A p.(Ser110Leu) NC_000004.12:69495532:G:A Identity +NM_198578.4:c.2600A>T NP_940980.4:p.Asp867Val NC_000012.12:40287449:A:T p.(Asp867Val) NC_000012.12:40287449:A:T p.(Asp867Val) NC_000012.12:40287449:A:T Identity +NM_001321307.1:c.1762G>A NP_001308236.1:p.Val588Ile NC_000011.10:108173221:C:T p.(Val588Ile) NC_000011.10:108173221:C:T p.(Val588Ile) NC_000011.10:108173221:C:T Identity +NM_001143968.1:c.487G>A NP_001137440.1:p.Glu163Lys NC_000017.11:39160594:C:T p.(Glu163Lys) NC_000017.11:39160594:C:T p.(Glu163Lys) NC_000017.11:39160594:C:T Identity +NM_001323599.2:c.568G>A NP_001310528.1:p.Gly190Ser NC_000010.11:29550855:C:T p.(Gly190Ser) NC_000010.11:29550855:C:T p.(Gly190Ser) NC_000010.11:29550855:C:T Identity +NM_000251.3:c.2050G>A NP_000242.1:p.Val684Met NC_000002.12:47476410:G:A p.(Val684Met) NC_000002.12:47476410:G:A p.(Val684Met) NC_000002.12:47476410:G:A Identity +NM_001206665.2:c.1345G>A NP_001193594.1:p.Gly449Arg NC_000001.11:160092662:C:T p.(Gly449Arg) NC_000001.11:160092662:C:T p.(Gly449Arg) NC_000001.11:160092662:C:T Identity +NM_001005408.2:c.1468C>T NP_001005408.1:p.Arg490Cys NC_000017.11:7325371:G:A p.(Arg490Cys) NC_000017.11:7325371:G:A p.(Arg490Cys) NC_000017.11:7325371:G:A Identity +NM_000130.5:c.4229C>T NP_000121.2:p.Thr1410Ile NC_000001.11:169540860:G:A p.(Thr1410Ile) NC_000001.11:169540860:G:A p.(Thr1410Ile) NC_000001.11:169540860:G:A Identity +NM_000314.8:c.43A>G NP_000305.3:p.Arg15Gly NC_000010.11:87864511:A:G p.(Arg15Gly) NC_000010.11:87864511:A:G p.(Arg15Gly) NC_000010.11:87864511:A:G Identity +NM_001040108.2:c.2861A>G NP_001035197.1:p.His954Arg NC_000014.9:75046794:T:C p.(His954Arg) NC_000014.9:75046794:T:C p.(His954Arg) NC_000014.9:75046794:T:C Identity +NM_001190995.2:c.2015C>A NP_001177924.1:p.Ala672Asp NC_000012.12:30637046:G:T p.(Ala672Asp) NC_000012.12:30637046:G:T p.(Ala672Asp) NC_000012.12:30637046:G:T Identity +NM_000228.3:c.2236C>T NP_000219.2:p.Arg746Trp NC_000001.11:209623626:G:A p.(Arg746Trp) NC_000001.11:209623626:G:A p.(Arg746Trp) NC_000001.11:209623626:G:A Identity +NM_001035.3:c.4625C>T NP_001026.2:p.Ala1542Val NC_000001.11:237602052:C:T p.(Ala1542Val) NC_000001.11:237602052:C:T p.(Ala1542Val) NC_000001.11:237602052:C:T Identity +NM_001366122.1:c.3734G>A NP_001353051.1:p.Arg1245His NC_000007.14:128880410:C:T p.(Arg1245His) NC_000007.14:128880410:C:T p.(Arg1245His) NC_000007.14:128880410:C:T Identity +NM_001005476.4:c.2525C>T NP_001005476.1:p.Thr842Ile NC_000002.12:158663392:C:T p.(Thr842Ile) NC_000002.12:158663392:C:T p.(Thr842Ile) NC_000002.12:158663392:C:T Identity +NM_002432.3:c.1115T>G NP_002423.1:p.Leu372Arg NC_000001.11:158847854:T:G p.(Leu372Arg) NC_000001.11:158847854:T:G p.(Leu372Arg) NC_000001.11:158847854:T:G Identity +NM_001346599.2:c.185C>T NP_001333528.1:p.Pro62Leu NC_000007.14:105542552:C:T p.(Pro62Leu) NC_000007.14:105542552:C:T p.(Pro62Leu) NC_000007.14:105542552:C:T Identity +NM_001320848.2:c.4C>G NP_001307777.1:p.Leu2Val NC_000002.12:97091702:G:C p.(Leu2Val) NC_000002.12:97091702:G:C p.(Leu2Val) NC_000002.12:97091702:G:C Identity +NM_199420.4:c.3299A>G NP_955452.3:p.Asn1100Ser NC_000003.12:121489631:T:C p.(Asn1100Ser) NC_000003.12:121489631:T:C p.(Asn1100Ser) NC_000003.12:121489631:T:C Identity +NM_001099685.3:c.247G>A NP_001093155.1:p.Ala83Thr NC_000023.11:120077120:C:T p.(Ala83Thr) NC_000023.11:120077120:C:T p.(Ala83Thr) NC_000023.11:120077120:C:T Identity +NM_053046.4:c.397A>G NP_444274.1:p.Lys133Glu NC_000019.10:40800968:A:G p.(Lys133Glu) NC_000019.10:40800968:A:G p.(Lys133Glu) NC_000019.10:40800968:A:G Identity +NM_001406684.1:c.1343A>G NP_001393613.1:p.Tyr448Cys NC_000016.10:2071612:A:G p.(Tyr448Cys) NC_000016.10:2071612:A:G p.(Tyr448Cys) NC_000016.10:2071612:A:G Identity +NM_053046.4:c.935A>G NP_444274.1:p.Tyr312Cys NC_000019.10:40806645:A:G p.(Tyr312Cys) NC_000019.10:40806645:A:G p.(Tyr312Cys) NC_000019.10:40806645:A:G Identity +NM_001098623.2:c.11483C>T NP_001092093.2:p.Ala3828Val NC_000001.11:228294866:C:T p.(Ala3828Val) NC_000001.11:228294866:C:T p.(Ala3828Val) NC_000001.11:228294866:C:T Identity +NM_199420.4:c.4304T>C NP_955452.3:p.Val1435Ala NC_000003.12:121488626:A:G p.(Val1435Ala) NC_000003.12:121488626:A:G p.(Val1435Ala) NC_000003.12:121488626:A:G Identity +NM_001009811.4:c.1762C>G NP_001009811.2:p.Gln588Glu NC_000017.11:81196940:G:C p.(Gln588Glu) NC_000017.11:81196940:G:C p.(Gln588Glu) NC_000017.11:81196940:G:C Identity +NM_052947.4:c.2575A>G NP_443179.3:p.Thr859Ala NC_000018.10:58537611:T:C p.(Thr859Ala) NC_000018.10:58537611:T:C p.(Thr859Ala) NC_000018.10:58537611:T:C Identity +NM_001177310.2:c.6017C>T NP_001170781.1:p.Thr2006Met NC_000009.12:74724649:G:A p.(Thr2006Met) NC_000009.12:74724649:G:A p.(Thr2006Met) NC_000009.12:74724649:G:A Identity +NM_001211.6:c.2350G>A NP_001202.5:p.Ala784Thr NC_000015.10:40210174:G:A p.(Ala784Thr) NC_000015.10:40210174:G:A p.(Ala784Thr) NC_000015.10:40210174:G:A Identity +NM_001303496.3:c.3347A>T NP_001290425.1:p.Asn1116Ile NC_000007.14:93132624:T:A p.(Asn1116Ile) NC_000007.14:93132624:T:A p.(Asn1116Ile) NC_000007.14:93132624:T:A Identity +NM_002439.5:c.823C>A NP_002430.3:p.His275Asn NC_000005.10:80672273:C:A p.(His275Asn) NC_000005.10:80672273:C:A p.(His275Asn) NC_000005.10:80672273:C:A Identity +NM_002317.7:c.464G>T NP_002308.2:p.Ser155Ile NC_000005.10:122077521:C:A p.(Ser155Ile) NC_000005.10:122077521:C:A p.(Ser155Ile) NC_000005.10:122077521:C:A Identity +NM_001231.5:c.376G>A NP_001222.3:p.Val126Met NC_000001.11:160193757:G:A p.(Val126Met) NC_000001.11:160193757:G:A p.(Val126Met) NC_000001.11:160193757:G:A Identity +NM_002907.4:c.1294A>C NP_002898.2:p.Met432Leu NC_000012.12:21474901:T:G p.(Met432Leu) NC_000012.12:21474901:T:G p.(Met432Leu) NC_000012.12:21474901:T:G Identity +NM_016169.4:c.1342G>C NP_057253.2:p.Glu448Gln NC_000010.11:102627219:G:C p.(Glu448Gln) NC_000010.11:102627219:G:C p.(Glu448Gln) NC_000010.11:102627219:G:C Identity +NM_001294332.2:c.3G>A NP_001281261.1:p.Met1Ile NC_000005.10:218357:G:A p.(Met1Ile) NC_000005.10:218357:G:A p.Met1? NC_000005.10:218357:G:A Identity +NM_001370259.2:c.1116C>G NP_001357188.2:p.Ile372Met NC_000011.10:64805703:G:C p.(Ile372Met) NC_000011.10:64805703:G:C p.(Ile372Met) NC_000011.10:64805703:G:C Identity +NM_001031727.4:c.77G>A NP_001026897.1:p.Arg26His NC_000019.10:13764664:G:A p.(Arg26His) NC_000019.10:13764664:G:A p.(Arg26His) NC_000019.10:13764664:G:A Identity +NM_001352019.2:c.107G>A NP_001338948.1:p.Cys36Tyr NC_000016.10:954425:C:T p.(Cys36Tyr) NC_000016.10:954425:C:T p.(Cys36Tyr) NC_000016.10:954425:C:T Identity +NM_198578.4:c.7231T>C NP_940980.4:p.Ser2411Pro NC_000012.12:40364890:T:C p.(Ser2411Pro) NC_000012.12:40364890:T:C p.(Ser2411Pro) NC_000012.12:40364890:T:C Identity +NM_001386421.1:c.1915C>G NP_001373350.1:p.Leu639Val NC_000003.12:45967418:G:C p.(Leu639Val) NC_000003.12:45967418:G:C p.(Leu639Val) NC_000003.12:45967418:G:C Identity +NM_001319051.2:c.1436G>C NP_001305980.1:p.Arg479Thr NC_000003.12:16219445:G:C p.(Arg479Thr) NC_000003.12:16219445:G:C p.(Arg479Thr) NC_000003.12:16219445:G:C Identity +NM_000229.2:c.1163C>T NP_000220.1:p.Pro388Leu NC_000016.10:67940063:G:A p.(Pro388Leu) NC_000016.10:67940063:G:A p.(Pro388Leu) NC_000016.10:67940063:G:A Identity +NM_173689.7:c.2690C>T NP_775960.4:p.Ser897Leu NC_000009.12:123373220:C:T p.(Ser897Leu) NC_000009.12:123373220:C:T p.(Ser897Leu) NC_000009.12:123373220:C:T Identity +NM_000245.4:c.1620G>A NP_000236.2:p.Trp540Ter NC_000007.14:116740943:G:A p.(Trp540Ter) NC_000007.14:116740943:G:A p.(Trp540Ter) NC_000007.14:116740943:G:A Identity +NM_000492.4:c.4370A>T NP_000483.3:p.Lys1457Met NC_000007.14:117667034:A:T p.(Lys1457Met) NC_000007.14:117667034:A:T p.(Lys1457Met) NC_000007.14:117667034:A:T Identity +NM_001321307.1:c.1369G>C NP_001308236.1:p.Gly457Arg NC_000011.10:108173614:C:G p.(Gly457Arg) NC_000011.10:108173614:C:G p.(Gly457Arg) NC_000011.10:108173614:C:G Identity +NM_000057.4:c.3872C>A NP_000048.1:p.Pro1291Gln NC_000015.10:90809256:C:A p.(Pro1291Gln) NC_000015.10:90809256:C:A p.(Pro1291Gln) NC_000015.10:90809256:C:A Identity +NM_001282386.1:c.64A>T NP_001269315.1:p.Ile22Phe NC_000002.12:208251487:T:A p.(Ile22Phe) NC_000002.12:208251487:T:A p.(Ile22Phe) NC_000002.12:208251487:T:A Identity +NM_001103.4:c.518T>C NP_001094.1:p.Ile173Thr NC_000001.11:236726001:T:C p.(Ile173Thr) NC_000001.11:236726001:T:C p.(Ile173Thr) NC_000001.11:236726001:T:C Identity +NM_001282862.2:c.154C>T NP_001269791.1:p.His52Tyr NC_000010.11:43205986:G:A p.(His52Tyr) NC_000010.11:43205986:G:A p.(His52Tyr) NC_000010.11:43205986:G:A Identity +NM_001321307.1:c.3397A>G NP_001308236.1:p.Lys1133Glu NC_000011.10:108161709:T:C p.(Lys1133Glu) NC_000011.10:108161709:T:C p.(Lys1133Glu) NC_000011.10:108161709:T:C Identity +NM_001321307.1:c.3562C>G NP_001308236.1:p.Pro1188Ala NC_000011.10:108161544:G:C p.(Pro1188Ala) NC_000011.10:108161544:G:C p.(Pro1188Ala) NC_000011.10:108161544:G:C Identity +NM_001130144.3:c.1488C>A NP_001123616.1:p.Ser496Arg NC_000011.10:65552014:G:T p.(Ser496Arg) NC_000011.10:65552014:G:T p.(Ser496Arg) NC_000011.10:65552014:G:T Identity +NM_001276289.2:c.853C>T NP_001263218.1:p.Gln285Ter NC_000017.11:68528952:C:T p.(Gln285Ter) NC_000017.11:68528952:C:T p.(Gln285Ter) NC_000017.11:68528952:C:T Identity +NM_001303245.3:c.2479A>C NP_001290174.1:p.Lys827Gln NC_000003.12:141610022:A:C p.(Lys827Gln) NC_000003.12:141610022:A:C p.(Lys827Gln) NC_000003.12:141610022:A:C Identity +NM_006231.4:c.5855A>G NP_006222.2:p.Asn1952Ser NC_000012.12:132634334:T:C p.(Asn1952Ser) NC_000012.12:132634334:T:C p.(Asn1952Ser) NC_000012.12:132634334:T:C Identity +NM_003386.3:c.5209G>A NP_003377.2:p.Ala1737Thr NC_000007.14:100769934:G:A p.(Ala1737Thr) NC_000007.14:100769934:G:A p.(Ala1737Thr) NC_000007.14:100769934:G:A Identity +NM_001321307.1:c.3817C>G NP_001308236.1:p.Pro1273Ala NC_000011.10:108161289:G:C p.(Pro1273Ala) NC_000011.10:108161289:G:C p.(Pro1273Ala) NC_000011.10:108161289:G:C Identity +NM_001005177.3:c.185T>C NP_001005177.3:p.Met62Thr NC_000011.10:4804195:A:G p.(Met62Thr) NC_000011.10:4804195:A:G p.(Met62Thr) NC_000011.10:4804195:A:G Identity +NM_001303245.3:c.2536G>T NP_001290174.1:p.Val846Phe NC_000003.12:141612295:G:T p.(Val846Phe) NC_000003.12:141612295:G:T p.(Val846Phe) NC_000003.12:141612295:G:T Identity +NM_001103.4:c.41A>G NP_001094.1:p.Tyr14Cys NC_000001.11:236686713:A:G p.(Tyr14Cys) NC_000001.11:236686713:A:G p.(Tyr14Cys) NC_000001.11:236686713:A:G Identity +NM_058216.3:c.619C>T NP_478123.1:p.His207Tyr NC_000017.11:58703242:C:T p.(His207Tyr) NC_000017.11:58703242:C:T p.(His207Tyr) NC_000017.11:58703242:C:T Identity +NM_001406618.1:c.992G>T NP_001393547.1:p.Gly331Val NC_000009.12:132906813:C:A p.(Gly331Val) NC_000009.12:132906813:C:A p.(Gly331Val) NC_000009.12:132906813:C:A Identity +NM_001868.4:c.626T>G NP_001859.1:p.Ile209Ser NC_000007.14:130383723:T:G p.(Ile209Ser) NC_000007.14:130383723:T:G p.(Ile209Ser) NC_000007.14:130383723:T:G Identity +NM_173651.4:c.1405G>A NP_775922.3:p.Glu469Lys NC_000002.12:185764558:G:A p.(Glu469Lys) NC_000002.12:185764558:G:A p.(Glu469Lys) NC_000002.12:185764558:G:A Identity +NM_000724.4:c.314T>C NP_000715.2:p.Ile105Thr NC_000010.11:18500833:T:C p.(Ile105Thr) NC_000010.11:18500833:T:C p.(Ile105Thr) NC_000010.11:18500833:T:C Identity +NM_000368.5:c.1964A>T NP_000359.1:p.Gln655Leu NC_000009.12:132905613:T:A p.(Gln655Leu) NC_000009.12:132905613:T:A p.(Gln655Leu) NC_000009.12:132905613:T:A Identity +NM_017841.4:c.75G>T NP_060311.1:p.Leu25Phe NC_000011.10:61437662:G:T p.(Leu25Phe) NC_000011.10:61437662:G:T p.(Leu25Phe) NC_000011.10:61437662:G:T Identity +NM_000724.4:c.1496C>T NP_000715.2:p.Thr499Ile NC_000010.11:18539401:C:T p.(Thr499Ile) NC_000010.11:18539401:C:T p.(Thr499Ile) NC_000010.11:18539401:C:T Identity +NM_000257.4:c.2260A>G NP_000248.2:p.Asn754Asp NC_000014.9:23425720:T:C p.(Asn754Asp) NC_000014.9:23425720:T:C p.(Asn754Asp) NC_000014.9:23425720:T:C Identity +NM_001040113.2:c.3850G>A NP_001035202.1:p.Glu1284Lys NC_000016.10:15726876:C:T p.(Glu1284Lys) NC_000016.10:15726876:C:T p.(Glu1284Lys) NC_000016.10:15726876:C:T Identity +NM_018660.3:c.1489C>G NP_061130.1:p.Gln497Glu NC_000008.11:28348771:G:C p.(Gln497Glu) NC_000008.11:28348771:G:C p.(Gln497Glu) NC_000008.11:28348771:G:C Identity +NM_001040108.2:c.462G>T NP_001035197.1:p.Gln154His NC_000014.9:75049193:C:A p.(Gln154His) NC_000014.9:75049193:C:A p.(Gln154His) NC_000014.9:75049193:C:A Identity +NM_002432.3:c.992G>A NP_002423.1:p.Ser331Asn NC_000001.11:158847731:G:A p.(Ser331Asn) NC_000001.11:158847731:G:A p.(Ser331Asn) NC_000001.11:158847731:G:A Identity +NM_001166108.2:c.1313A>G NP_001159580.1:p.Tyr438Cys NC_000004.12:168685536:A:G p.(Tyr438Cys) NC_000004.12:168685536:A:G p.(Tyr438Cys) NC_000004.12:168685536:A:G Identity +NM_001365951.3:c.4668C>G NP_001352880.1:p.Ser1556Arg NC_000001.11:10365563:C:G p.(Ser1556Arg) NC_000001.11:10365563:C:G p.(Ser1556Arg) NC_000001.11:10365563:C:G Identity +NM_001293306.2:c.32A>G NP_001280235.2:p.Asn11Ser NC_000003.12:38793978:T:C p.(Asn11Ser) NC_000003.12:38793978:T:C p.(Asn11Ser) NC_000003.12:38793978:T:C Identity +NM_199420.4:c.2654T>C NP_955452.3:p.Met885Thr NC_000003.12:121490276:A:G p.(Met885Thr) NC_000003.12:121490276:A:G p.(Met885Thr) NC_000003.12:121490276:A:G Identity +NM_020774.4:c.2437T>A NP_065825.1:p.Ser813Thr NC_000018.10:21849238:T:A p.(Ser813Thr) NC_000018.10:21849238:T:A p.(Ser813Thr) NC_000018.10:21849238:T:A Identity +NM_199420.4:c.7130A>G NP_955452.3:p.Asp2377Gly NC_000003.12:121460071:T:C p.(Asp2377Gly) NC_000003.12:121460071:T:C p.(Asp2377Gly) NC_000003.12:121460071:T:C Identity +NM_001195227.2:c.575G>T NP_001182156.1:p.Gly192Val NC_000019.10:49168385:G:T p.(Gly192Val) NC_000019.10:49168385:G:T p.(Gly192Val) NC_000019.10:49168385:G:T Identity +NM_000077.5:c.434T>G NP_000068.1:p.Ile145Arg NC_000009.12:21970924:A:C p.(Ile145Arg) NC_000009.12:21970924:A:C p.(Ile145Arg) NC_000009.12:21970924:A:C Identity +NM_020778.5:c.2822A>T NP_065829.4:p.Asp941Val NC_000015.10:84857559:A:T p.(Asp941Val) NC_000015.10:84857559:A:T p.(Asp941Val) NC_000015.10:84857559:A:T Identity +NM_001256267.2:c.1847G>T NP_001243196.1:p.Gly616Val NC_000010.11:68166539:G:T p.(Gly616Val) NC_000010.11:68166539:G:T p.(Gly616Val) NC_000010.11:68166539:G:T Identity +NM_015627.3:c.289A>G NP_056442.2:p.Ile97Val NC_000001.11:25554916:A:G p.(Ile97Val) NC_000001.11:25554916:A:G p.(Ile97Val) NC_000001.11:25554916:A:G Identity +NM_022479.3:c.299C>T NP_071924.1:p.Pro100Leu NC_000007.14:71335609:C:T p.(Pro100Leu) NC_000007.14:71335609:C:T p.(Pro100Leu) NC_000007.14:71335609:C:T Identity +NM_052947.4:c.3866C>T NP_443179.3:p.Ala1289Val NC_000018.10:58536320:G:A p.(Ala1289Val) NC_000018.10:58536320:G:A p.(Ala1289Val) NC_000018.10:58536320:G:A Identity +NM_006393.3:c.1460A>G NP_006384.1:p.Lys487Arg NC_000010.11:20831572:T:C p.(Lys487Arg) NC_000010.11:20831572:T:C p.(Lys487Arg) NC_000010.11:20831572:T:C Identity +NM_001033566.3:c.1691C>G NP_001028738.1:p.Ala564Gly NC_000017.11:32208260:C:G p.(Ala564Gly) NC_000017.11:32208260:C:G p.(Ala564Gly) NC_000017.11:32208260:C:G Identity +NM_152542.5:c.232C>T NP_689755.3:p.Pro78Ser NC_000004.12:88278351:G:A p.(Pro78Ser) NC_000004.12:88278351:G:A p.(Pro78Ser) NC_000004.12:88278351:G:A Identity +NM_021733.2:c.1709C>T NP_068379.1:p.Thr570Met NC_000019.10:49739845:G:A p.(Thr570Met) NC_000019.10:49739845:G:A p.(Thr570Met) NC_000019.10:49739845:G:A Identity +NM_001378454.1:c.8799C>G NP_001365383.1:p.Cys2933Trp NC_000002.12:73490757:C:G p.(Cys2933Trp) NC_000002.12:73490757:C:G p.(Cys2933Trp) NC_000002.12:73490757:C:G Identity +NM_002160.4:c.4828C>T NP_002151.2:p.Pro1610Ser NC_000009.12:115048283:G:A p.(Pro1610Ser) NC_000009.12:115048283:G:A p.(Pro1610Ser) NC_000009.12:115048283:G:A Identity +NM_001378454.1:c.4016A>G NP_001365383.1:p.Lys1339Arg NC_000002.12:73450542:A:G p.(Lys1339Arg) NC_000002.12:73450542:A:G p.(Lys1339Arg) NC_000002.12:73450542:A:G Identity +NM_000264.5:c.2521C>T NP_000255.2:p.Pro841Ser NC_000009.12:95467154:G:A p.(Pro841Ser) NC_000009.12:95467154:G:A p.(Pro841Ser) NC_000009.12:95467154:G:A Identity +NM_001366028.2:c.3263T>C NP_001352957.1:p.Val1088Ala NC_000003.12:57457793:A:G p.(Val1088Ala) NC_000003.12:57457793:A:G p.(Val1088Ala) NC_000003.12:57457793:A:G Identity +NM_005751.5:c.4912G>T NP_005742.4:p.Ala1638Ser NC_000007.14:92040892:G:T p.(Ala1638Ser) NC_000007.14:92040892:G:T p.(Ala1638Ser) NC_000007.14:92040892:G:T Identity +NM_001145862.2:c.416G>A NP_001139334.1:p.Arg139Gln NC_000001.11:149935037:C:T p.(Arg139Gln) NC_000001.11:149935037:C:T p.(Arg139Gln) NC_000001.11:149935037:C:T Identity +NM_001081640.2:c.1121A>T NP_001075109.1:p.Lys374Met NC_000008.11:47936509:T:A p.(Lys374Met) NC_000008.11:47936509:T:A p.(Lys374Met) NC_000008.11:47936509:T:A Identity +NM_052947.4:c.2186T>A NP_443179.3:p.Ile729Lys NC_000018.10:58538000:A:T p.(Ile729Lys) NC_000018.10:58538000:A:T p.(Ile729Lys) NC_000018.10:58538000:A:T Identity +NM_018902.5:c.982C>T NP_061725.1:p.Pro328Ser NC_000005.10:140870084:C:T p.(Pro328Ser) NC_000005.10:140870084:C:T p.(Pro328Ser) NC_000005.10:140870084:C:T Identity +NM_001367624.2:c.8378A>C NP_001354553.1:p.Asn2793Thr NC_000016.10:88435847:A:C p.(Asn2793Thr) NC_000016.10:88435847:A:C p.(Asn2793Thr) NC_000016.10:88435847:A:C Identity +NM_000548.5:c.839T>C NP_000539.2:p.Met280Thr NC_000016.10:2057168:T:C p.(Met280Thr) NC_000016.10:2057168:T:C p.(Met280Thr) NC_000016.10:2057168:T:C Identity +NM_001406673.1:c.1277G>T NP_001393602.1:p.Arg426Ile NC_000016.10:2062527:G:T p.(Arg426Ile) NC_000016.10:2062527:G:T p.(Arg426Ile) NC_000016.10:2062527:G:T Identity +NM_000297.4:c.218C>T NP_000288.1:p.Ala73Val NC_000004.12:88007950:C:T p.(Ala73Val) NC_000004.12:88007950:C:T p.(Ala73Val) NC_000004.12:88007950:C:T Identity +NM_001098623.2:c.6535G>A NP_001092093.2:p.Glu2179Lys NC_000001.11:228276976:G:A p.(Glu2179Lys) NC_000001.11:228276976:G:A p.(Glu2179Lys) NC_000001.11:228276976:G:A Identity +NM_017825.3:c.719G>A NP_060295.1:p.Arg240His NC_000001.11:36092438:G:A p.(Arg240His) NC_000001.11:36092438:G:A p.(Arg240His) NC_000001.11:36092438:G:A Identity +NM_004120.5:c.662G>A NP_004111.2:p.Arg221Gln NC_000001.11:89117197:C:T p.(Arg221Gln) NC_000001.11:89117197:C:T p.(Arg221Gln) NC_000001.11:89117197:C:T Identity +NM_001098623.2:c.5857C>A NP_001092093.2:p.His1953Asn NC_000001.11:228274744:C:A p.(His1953Asn) NC_000001.11:228274744:C:A p.(His1953Asn) NC_000001.11:228274744:C:A Identity +NM_000244.4:c.443C>T NP_000235.3:p.Thr148Ile NC_000011.10:64809666:G:A p.(Thr148Ile) NC_000011.10:64809666:G:A p.(Thr148Ile) NC_000011.10:64809666:G:A Identity +NM_000244.4:c.1446A>C NP_000235.3:p.Glu482Asp NC_000011.10:64804735:T:G p.(Glu482Asp) NC_000011.10:64804735:T:G p.(Glu482Asp) NC_000011.10:64804735:T:G Identity +NM_025130.4:c.2219A>G NP_079406.4:p.Tyr740Cys NC_000010.11:69261140:A:G p.(Tyr740Cys) NC_000010.11:69261140:A:G p.(Tyr740Cys) NC_000010.11:69261140:A:G Identity +NM_152418.4:c.761G>A NP_689631.1:p.Arg254His NC_000008.11:87873210:C:T p.(Arg254His) NC_000008.11:87873210:C:T p.(Arg254His) NC_000008.11:87873210:C:T Identity +NM_015160.3:c.16C>G NP_055975.1:p.Leu6Val NC_000009.12:136410683:C:G p.(Leu6Val) NC_000009.12:136410683:C:G p.(Leu6Val) NC_000009.12:136410683:C:G Identity +NM_001300823.2:c.386A>C NP_001287752.1:p.Glu129Ala NC_000004.12:120821259:T:G p.(Glu129Ala) NC_000004.12:120821259:T:G p.(Glu129Ala) NC_000004.12:120821259:T:G Identity +NM_004444.5:c.937A>G NP_004435.3:p.Thr313Ala NC_000007.14:100820167:T:C p.(Thr313Ala) NC_000007.14:100820167:T:C p.(Thr313Ala) NC_000007.14:100820167:T:C Identity +NM_000321.3:c.1337A>G NP_000312.2:p.Tyr446Cys NC_000013.11:48379597:A:G p.(Tyr446Cys) NC_000013.11:48379597:A:G p.(Tyr446Cys) NC_000013.11:48379597:A:G Identity +NM_032043.3:c.2459A>T NP_114432.2:p.Gln820Leu NC_000017.11:61715983:T:A p.(Gln820Leu) NC_000017.11:61715983:T:A p.(Gln820Leu) NC_000017.11:61715983:T:A Identity +NM_000548.5:c.4001G>C NP_000539.2:p.Ser1334Thr NC_000016.10:2083811:G:C p.(Ser1334Thr) NC_000016.10:2083811:G:C p.(Ser1334Thr) NC_000016.10:2083811:G:C Identity +NM_000548.5:c.263T>G NP_000539.2:p.Leu88Arg NC_000016.10:2053378:T:G p.(Leu88Arg) NC_000016.10:2053378:T:G p.(Leu88Arg) NC_000016.10:2053378:T:G Identity +NM_001406677.1:c.4130T>A NP_001393606.1:p.Ile1377Asn NC_000016.10:2084609:T:A p.(Ile1377Asn) NC_000016.10:2084609:T:A p.(Ile1377Asn) NC_000016.10:2084609:T:A Identity +NM_001384354.1:c.298C>T NP_001371283.1:p.Pro100Ser NC_000020.11:59191316:C:T p.(Pro100Ser) NC_000020.11:59191316:C:T p.(Pro100Ser) NC_000020.11:59191316:C:T Identity +NM_052843.4:c.19328C>G NP_443075.3:p.Ser6443Cys NC_000001.11:228360219:C:G p.(Ser6443Cys) NC_000001.11:228360219:C:G p.(Ser6443Cys) NC_000001.11:228360219:C:G Identity +NM_001098512.3:c.820C>G NP_001091982.1:p.Pro274Ala NC_000010.11:52062560:C:G p.(Pro274Ala) NC_000010.11:52062560:C:G p.(Pro274Ala) NC_000010.11:52062560:C:G Identity +NM_000136.3:c.487G>C NP_000127.2:p.Glu163Gln NC_000009.12:95171112:C:G p.(Glu163Gln) NC_000009.12:95171112:C:G p.(Glu163Gln) NC_000009.12:95171112:C:G Identity +NM_004064.5:c.79T>C NP_004055.1:p.Ser27Pro NC_000012.12:12717917:T:C p.(Ser27Pro) NC_000012.12:12717917:T:C p.(Ser27Pro) NC_000012.12:12717917:T:C Identity +NM_001128626.2:c.2212A>G NP_001122098.1:p.Met738Val NC_000018.10:12449696:T:C p.(Met738Val) NC_000018.10:12449696:T:C p.(Met738Val) NC_000018.10:12449696:T:C Identity +NM_001080518.2:c.631A>G NP_001073987.1:p.Met211Val NC_000010.11:88732512:A:G p.(Met211Val) NC_000010.11:88732512:A:G p.(Met211Val) NC_000010.11:88732512:A:G Identity +NM_001407951.1:c.2322C>G NP_001394880.1:p.Phe774Leu NC_000017.11:43092875:G:C p.(Phe774Leu) NC_000017.11:43092875:G:C p.(Phe774Leu) NC_000017.11:43092875:G:C Identity +NM_001278616.2:c.308A>G NP_001265545.1:p.Gln103Arg NC_000002.12:110672714:T:C p.(Gln103Arg) NC_000002.12:110672714:T:C p.(Gln103Arg) NC_000002.12:110672714:T:C Identity +NM_000059.3:c.3887_3889ATA[1] NP_000050.2:p.Asn1297del NC_000013.11:32338240:AATAATA:AATA ERR:Data provider error: ValueError: Transcript NM_000059.3 not found ERR:Data provider error: ValueError: Transcript NM_000059.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000059.3 not found +NM_000465.4:c.1928A>G NP_000456.2:p.Lys643Arg NC_000002.12:214730483:T:C p.(Lys643Arg) NC_000002.12:214730483:T:C p.(Lys643Arg) NC_000002.12:214730483:T:C Identity +NM_002907.4:c.235del NP_002898.2:p.Val79fs NC_000012.12:21490357:C: p.(Val79LeufsTer24) NC_000012.12:21490357:C: p.(Val79LeufsTer24) NC_000012.12:21490357:C: Analogous +NM_000384.3:c.4201T>C NP_000375.3:p.Ser1401Pro NC_000002.12:21013174:A:G p.(Ser1401Pro) NC_000002.12:21013174:A:G p.(Ser1401Pro) NC_000002.12:21013174:A:G Identity +NM_000059.4:c.7211_7212delinsGGTT NP_000050.3:p.Lys2404fs NC_000013.11:32355063:AA:GGTT p.(Lys2404ArgfsTer64) NC_000013.11:32355062:AAA:AGGTT p.(Lys2404ArgfsTer64) NC_000013.11:32355063:AA:GGTT Analogous +NM_000059.4:c.10099G>C NP_000050.3:p.Glu3367Gln NC_000013.11:32398611:G:C p.(Glu3367Gln) NC_000013.11:32398611:G:C p.(Glu3367Gln) NC_000013.11:32398611:G:C Identity +NM_001363813.1:c.1964A>C NP_001350742.1:p.Gln655Pro NC_000017.11:65535703:T:G p.(Gln655Pro) NC_000017.11:65535703:T:G p.(Gln655Pro) NC_000017.11:65535703:T:G Identity +NM_001395688.1:c.5315G>T NP_001382617.1:p.Arg1772Ile NC_000014.9:95090546:C:A p.(Arg1772Ile) NC_000014.9:95090546:C:A p.(Arg1772Ile) NC_000014.9:95090546:C:A Identity +NM_001211.6:c.3056T>C NP_001202.5:p.Met1019Thr NC_000015.10:40220661:T:C p.(Met1019Thr) NC_000015.10:40220661:T:C p.(Met1019Thr) NC_000015.10:40220661:T:C Identity +NM_002907.4:c.1742A>T NP_002898.2:p.Asn581Ile NC_000012.12:21471023:T:A p.(Asn581Ile) NC_000012.12:21471023:T:A p.(Asn581Ile) NC_000012.12:21471023:T:A Identity +NM_001165974.2:c.17C>T NP_001159446.1:p.Ala6Val NC_000003.12:126517702:G:A p.(Ala6Val) NC_000003.12:126517702:G:A p.(Ala6Val) NC_000003.12:126517702:G:A Identity +NM_000249.4:c.730G>T NP_000240.1:p.Gly244Cys NC_000003.12:37014483:G:T p.(Gly244Cys) NC_000003.12:37014483:G:T p.(Gly244Cys) NC_000003.12:37014483:G:T Identity +NM_004982.4:c.103C>G NP_004973.1:p.Arg35Gly NC_000012.12:21773513:G:C p.(Arg35Gly) NC_000012.12:21773513:G:C p.(Arg35Gly) NC_000012.12:21773513:G:C Identity +NM_004387.4:c.863C>T NP_004378.1:p.Ala288Val NC_000005.10:173232680:G:A p.(Ala288Val) NC_000005.10:173232680:G:A p.(Ala288Val) NC_000005.10:173232680:G:A Identity +NM_000400.4:c.1291C>A NP_000391.1:p.Pro431Thr NC_000019.10:45357645:G:T p.(Pro431Thr) NC_000019.10:45357645:G:T p.(Pro431Thr) NC_000019.10:45357645:G:T Identity +NM_001024688.3:c.299A>G NP_001019859.1:p.Lys100Arg NC_000008.11:89978258:T:C p.(Lys100Arg) NC_000008.11:89978258:T:C p.(Lys100Arg) NC_000008.11:89978258:T:C Identity +NM_001195573.1:c.4282A>T NP_001182502.1:p.Met1428Leu NC_000014.9:95096637:T:A p.(Met1428Leu) NC_000014.9:95096637:T:A p.(Met1428Leu) NC_000014.9:95096637:T:A Identity +NM_015325.3:c.4693A>G NP_056140.1:p.Asn1565Asp NC_000005.10:5464026:A:G p.(Asn1565Asp) NC_000005.10:5464026:A:G p.(Asn1565Asp) NC_000005.10:5464026:A:G Identity +NM_000039.3:c.477C>G NP_000030.1:p.His159Gln NC_000011.10:116836134:G:C p.(His159Gln) NC_000011.10:116836134:G:C p.(His159Gln) NC_000011.10:116836134:G:C Identity +NM_001302959.2:c.451A>C NP_001289888.1:p.Lys151Gln NC_000011.10:67490196:A:C p.(Lys151Gln) NC_000011.10:67490196:A:C p.(Lys151Gln) NC_000011.10:67490196:A:C Identity +NM_001354900.2:c.1367T>A NP_001341829.1:p.Leu456Gln NC_000005.10:112827188:T:A p.(Leu456Gln) NC_000005.10:112827188:T:A p.(Leu456Gln) NC_000005.10:112827188:T:A Identity +NM_000038.6:c.1067T>A NP_000029.2:p.Leu356His NC_000005.10:112819098:T:A p.(Leu356His) NC_000005.10:112819098:T:A p.(Leu356His) NC_000005.10:112819098:T:A Identity +NM_004304.5:c.1718C>G NP_004295.2:p.Thr573Ser NC_000002.12:29296986:G:C p.(Thr573Ser) NC_000002.12:29296986:G:C p.(Thr573Ser) NC_000002.12:29296986:G:C Identity +NM_004304.5:c.2255T>G NP_004295.2:p.Met752Arg NC_000002.12:29239779:A:C p.(Met752Arg) NC_000002.12:29239779:A:C p.(Met752Arg) NC_000002.12:29239779:A:C Identity +NM_000400.4:c.971G>C NP_000391.1:p.Arg324Pro NC_000019.10:45363889:C:G p.(Arg324Pro) NC_000019.10:45363889:C:G p.(Arg324Pro) NC_000019.10:45363889:C:G Identity +NM_000400.4:c.1862T>G NP_000391.1:p.Phe621Cys NC_000019.10:45352785:A:C p.(Phe621Cys) NC_000019.10:45352785:A:C p.(Phe621Cys) NC_000019.10:45352785:A:C Identity +NM_017801.3:c.448C>T NP_060271.1:p.Leu150Phe NC_000003.12:32484063:G:A p.(Leu150Phe) NC_000003.12:32484063:G:A p.(Leu150Phe) NC_000003.12:32484063:G:A Identity +NM_000130.5:c.6233A>C NP_000121.2:p.Glu2078Ala NC_000001.11:169518523:T:G p.(Glu2078Ala) NC_000001.11:169518523:T:G p.(Glu2078Ala) NC_000001.11:169518523:T:G Identity +NM_020433.5:c.52T>A NP_065166.2:p.Trp18Arg NC_000020.11:44186653:A:T p.(Trp18Arg) NC_000020.11:44186653:A:T p.(Trp18Arg) NC_000020.11:44186653:A:T Identity +NM_001256850.1:c.39893_39895CTC[1] NP_001243779.1:p.Pro13299del NC_000002.12:178622761:GAGGAG:GAG p.(Pro13299del) NC_000002.12:178622764:GAG:GAG ERR:Parse ERR:Parse Identity +NM_001122847.3:c.1247G>A NP_001116319.1:p.Arg416Gln NC_000012.12:196202:C:T p.(Arg416Gln) NC_000012.12:196202:C:T p.(Arg416Gln) NC_000012.12:196202:C:T Identity +NM_198578.4:c.2510C>G NP_940980.4:p.Ser837Cys NC_000012.12:40287359:C:G p.(Ser837Cys) NC_000012.12:40287359:C:G p.(Ser837Cys) NC_000012.12:40287359:C:G Identity +NM_198578.4:c.874C>T NP_940980.4:p.His292Tyr NC_000012.12:40249860:C:T p.(His292Tyr) NC_000012.12:40249860:C:T p.(His292Tyr) NC_000012.12:40249860:C:T Identity +NM_000057.4:c.3348C>A NP_000048.1:p.Asp1116Glu NC_000015.10:90798326:C:A p.(Asp1116Glu) NC_000015.10:90798326:C:A p.(Asp1116Glu) NC_000015.10:90798326:C:A Identity +NM_000038.6:c.1718T>G NP_000029.2:p.Met573Arg NC_000005.10:112828946:T:G p.(Met573Arg) NC_000005.10:112828946:T:G p.(Met573Arg) NC_000005.10:112828946:T:G Identity +NM_198578.4:c.515C>T NP_940980.4:p.Ala172Val NC_000012.12:40238046:C:T p.(Ala172Val) NC_000012.12:40238046:C:T p.(Ala172Val) NC_000012.12:40238046:C:T Identity +NM_198578.4:c.7318T>C NP_940980.4:p.Ser2440Pro NC_000012.12:40364977:T:C p.(Ser2440Pro) NC_000012.12:40364977:T:C p.(Ser2440Pro) NC_000012.12:40364977:T:C Identity +NM_031912.5:c.607C>T NP_114118.2:p.Arg203Cys NC_000010.11:46582146:C:T p.(Arg203Cys) NC_000010.11:46582146:C:T p.(Arg203Cys) NC_000010.11:46582146:C:T Identity +NM_001395978.1:c.347G>T NP_001382907.1:p.Gly116Val NC_000013.11:19473958:C:A p.(Gly116Val) NC_000013.11:19473958:C:A p.(Gly116Val) NC_000013.11:19473958:C:A Identity +NM_001317184.2:c.2069A>G NP_001304113.1:p.Asn690Ser NC_000016.10:68828260:A:G p.(Asn690Ser) NC_000016.10:68828260:A:G p.(Asn690Ser) NC_000016.10:68828260:A:G Identity +NM_001294332.2:c.1288G>C NP_001281261.1:p.Gly430Arg NC_000005.10:236598:G:C p.(Gly430Arg) NC_000005.10:236598:G:C p.(Gly430Arg) NC_000005.10:236598:G:C Identity +NM_000314.8:c.163A>G NP_000305.3:p.Arg55Gly NC_000010.11:87894107:A:G p.(Arg55Gly) NC_000010.11:87894107:A:G p.(Arg55Gly) NC_000010.11:87894107:A:G Identity +NM_198578.4:c.5543T>C NP_940980.4:p.Leu1848Pro NC_000012.12:40323192:T:C p.(Leu1848Pro) NC_000012.12:40323192:T:C p.(Leu1848Pro) NC_000012.12:40323192:T:C Identity +NM_198578.4:c.2048T>C NP_940980.4:p.Ile683Thr NC_000012.12:40277993:T:C p.(Ile683Thr) NC_000012.12:40277993:T:C p.(Ile683Thr) NC_000012.12:40277993:T:C Identity +NM_001008844.3:c.137G>C NP_001008844.1:p.Gly46Ala NC_000006.12:7542051:G:C p.(Gly46Ala) NC_000006.12:7542051:G:C p.(Gly46Ala) NC_000006.12:7542051:G:C Identity +NM_000245.4:c.911G>T NP_000236.2:p.Arg304Ile NC_000007.14:116699994:G:T p.(Arg304Ile) NC_000007.14:116699994:G:T p.(Arg304Ile) NC_000007.14:116699994:G:T Identity +NM_000245.4:c.4135G>C NP_000236.2:p.Val1379Leu NC_000007.14:116796085:G:C p.(Val1379Leu) NC_000007.14:116796085:G:C p.(Val1379Leu) NC_000007.14:116796085:G:C Identity +NM_000038.6:c.7690T>G NP_000029.2:p.Trp2564Gly NC_000005.10:112843283:T:G p.(Trp2564Gly) NC_000005.10:112843283:T:G p.(Trp2564Gly) NC_000005.10:112843283:T:G Identity +NM_000245.4:c.1061C>A NP_000236.2:p.Ala354Asp NC_000007.14:116700144:C:A p.(Ala354Asp) NC_000007.14:116700144:C:A p.(Ala354Asp) NC_000007.14:116700144:C:A Identity +NM_001191054.1:c.851A>C NP_001177983.1:p.Gln284Pro NC_000012.12:133221321:T:G p.(Gln284Pro) NC_000012.12:133221321:T:G p.(Gln284Pro) NC_000012.12:133221321:T:G Identity +NM_000251.3:c.998del NP_000242.1:p.Cys333fs NC_000002.12:47416350:G: p.(Cys333LeufsTer24) NC_000002.12:47416350:G: p.(Cys333LeufsTer24) NC_000002.12:47416350:G: Analogous +NM_001184.4:c.3538A>G NP_001175.2:p.Thr1180Ala NC_000003.12:142540946:T:C p.(Thr1180Ala) NC_000003.12:142540946:T:C p.(Thr1180Ala) NC_000003.12:142540946:T:C Identity +NM_002471.4:c.5454A>T NP_002462.2:p.Glu1818Asp NC_000014.9:23384552:T:A p.(Glu1818Asp) NC_000014.9:23384552:T:A p.(Glu1818Asp) NC_000014.9:23384552:T:A Identity +NM_198578.4:c.1523T>C NP_940980.4:p.Ile508Thr NC_000012.12:40259583:T:C p.(Ile508Thr) NC_000012.12:40259583:T:C p.(Ile508Thr) NC_000012.12:40259583:T:C Identity +NM_001048171.2:c.335C>T NP_001041636.2:p.Thr112Ile NC_000001.11:45333139:G:A p.(Thr112Ile) NC_000001.11:45333139:G:A p.(Thr112Ile) NC_000001.11:45333139:G:A Identity +NM_001184.4:c.1292G>A NP_001175.2:p.Arg431Lys NC_000003.12:142561299:C:T p.(Arg431Lys) NC_000003.12:142561299:C:T p.(Arg431Lys) NC_000003.12:142561299:C:T Identity +NM_000492.4:c.4205A>G NP_000483.3:p.His1402Arg NC_000007.14:117665526:A:G p.(His1402Arg) NC_000007.14:117665526:A:G p.(His1402Arg) NC_000007.14:117665526:A:G Identity +NM_000492.4:c.2584G>A NP_000483.3:p.Val862Met NC_000007.14:117595022:G:A p.(Val862Met) NC_000007.14:117595022:G:A p.(Val862Met) NC_000007.14:117595022:G:A Identity +NM_000268.4:c.1472T>C NP_000259.1:p.Leu491Ser NC_000022.11:29678220:T:C p.(Leu491Ser) NC_000022.11:29678220:T:C p.(Leu491Ser) NC_000022.11:29678220:T:C Identity +NM_001347827.2:c.2274G>C NP_001334756.1:p.Gln758His NC_000004.12:54280432:G:C p.(Gln758His) NC_000004.12:54280432:G:C p.(Gln758His) NC_000004.12:54280432:G:C Identity +NM_000251.3:c.1368_1369del NP_000242.1:p.Thr457fs NC_000002.12:47445638:AA: p.(Thr457PhefsTer10) NC_000002.12:47445638:AA: p.(Thr457PhefsTer10) NC_000002.12:47445638:AA: Analogous +NM_001184.4:c.1670T>G NP_001175.2:p.Leu557Arg NC_000003.12:142559312:A:C p.(Leu557Arg) NC_000003.12:142559312:A:C p.(Leu557Arg) NC_000003.12:142559312:A:C Identity +NM_000492.4:c.3388G>A NP_000483.3:p.Gly1130Ser NC_000007.14:117614632:G:A p.(Gly1130Ser) NC_000007.14:117614632:G:A p.(Gly1130Ser) NC_000007.14:117614632:G:A Identity +NM_005585.5:c.1148C>G NP_005576.3:p.Thr383Arg NC_000015.10:66781191:C:G p.(Thr383Arg) NC_000015.10:66781191:C:G p.(Thr383Arg) NC_000015.10:66781191:C:G Identity +NM_005502.4:c.1805A>C NP_005493.2:p.Gln602Pro NC_000009.12:104831011:T:G p.(Gln602Pro) NC_000009.12:104831011:T:G p.(Gln602Pro) NC_000009.12:104831011:T:G Identity +NM_001270.4:c.473C>T NP_001261.2:p.Ser158Phe NC_000005.10:98901299:G:A p.(Ser158Phe) NC_000005.10:98901299:G:A p.(Ser158Phe) NC_000005.10:98901299:G:A Identity +NM_001321307.1:c.3259A>G NP_001308236.1:p.Asn1087Asp NC_000011.10:108161847:T:C p.(Asn1087Asp) NC_000011.10:108161847:T:C p.(Asn1087Asp) NC_000011.10:108161847:T:C Identity +NM_001321307.1:c.3787G>A NP_001308236.1:p.Val1263Ile NC_000011.10:108161319:C:T p.(Val1263Ile) NC_000011.10:108161319:C:T p.(Val1263Ile) NC_000011.10:108161319:C:T Identity +NM_000268.4:c.1478C>T NP_000259.1:p.Pro493Leu NC_000022.11:29678226:C:T p.(Pro493Leu) NC_000022.11:29678226:C:T p.(Pro493Leu) NC_000022.11:29678226:C:T Identity +NM_001407240.1:c.680A>G NP_001394169.1:p.Asp227Gly NC_000001.11:55052310:A:G p.(Asp227Gly) NC_000001.11:55052310:A:G p.(Asp227Gly) NC_000001.11:55052310:A:G Identity +NM_006844.5:c.844C>T NP_006835.2:p.Arg282Trp NC_000019.10:15119487:G:A p.(Arg282Trp) NC_000019.10:15119487:G:A p.(Arg282Trp) NC_000019.10:15119487:G:A Identity +NM_001330394.3:c.1606G>A NP_001317323.1:p.Asp536Asn NC_000001.11:21723939:C:T p.(Asp536Asn) NC_000001.11:21723939:C:T p.(Asp536Asn) NC_000001.11:21723939:C:T Identity +NM_000492.4:c.386T>G NP_000483.3:p.Leu129Arg NC_000007.14:117531010:T:G p.(Leu129Arg) NC_000007.14:117531010:T:G p.(Leu129Arg) NC_000007.14:117531010:T:G Identity +NM_175062.4:c.397C>A NP_778232.2:p.His133Asn NC_000005.10:180136418:G:T p.(His133Asn) NC_000005.10:180136418:G:T p.(His133Asn) NC_000005.10:180136418:G:T Identity +NM_001303145.2:c.2T>C NP_001290074.1:p.Met1Thr NC_000005.10:141150666:T:C p.(Met1Thr) NC_000005.10:141150666:T:C p.Met1? NC_000005.10:141150666:T:C Identity +NM_001080463.2:c.11128G>T NP_001073932.1:p.Val3710Leu NC_000011.10:103303103:G:T p.(Val3710Leu) NC_000011.10:103303103:G:T p.(Val3710Leu) NC_000011.10:103303103:G:T Identity +NM_001042690.2:c.44C>G NP_001036155.1:p.Ser15Cys NC_000004.12:3249265:C:G p.(Ser15Cys) NC_000004.12:3249265:C:G p.(Ser15Cys) NC_000004.12:3249265:C:G Identity +NM_212559.3:c.89G>A NP_997724.2:p.Arg30Gln NC_000023.11:100928215:C:T p.(Arg30Gln) NC_000023.11:100928215:C:T p.(Arg30Gln) NC_000023.11:100928215:C:T Identity +NM_002016.2:c.4282C>T NP_002007.1:p.Arg1428Cys NC_000001.11:152310603:G:A p.(Arg1428Cys) NC_000001.11:152310603:G:A p.(Arg1428Cys) NC_000001.11:152310603:G:A Identity +NM_001318066.2:c.2416A>T NP_001304995.1:p.Ile806Phe NC_000004.12:118738343:T:A p.(Ile806Phe) NC_000004.12:118738343:T:A p.(Ile806Phe) NC_000004.12:118738343:T:A Identity +NM_000051.4:c.2000G>A NP_000042.3:p.Arg667Lys NC_000011.10:108253914:G:A p.(Arg667Lys) NC_000011.10:108253914:G:A p.(Arg667Lys) NC_000011.10:108253914:G:A Identity +NM_001315507.2:c.3917A>G NP_001302436.2:p.Gln1306Arg NC_000008.11:17972660:A:G p.(Gln1306Arg) NC_000008.11:17972660:A:G p.(Gln1306Arg) NC_000008.11:17972660:A:G Identity +NM_024867.4:c.1130G>T NP_079143.3:p.Arg377Leu NC_000005.10:35659169:G:T p.(Arg377Leu) NC_000005.10:35659169:G:T p.(Arg377Leu) NC_000005.10:35659169:G:T Identity +NM_001013622.3:c.496G>A NP_001013644.1:p.Gly166Ser NC_000004.12:1655363:C:T p.(Gly166Ser) NC_000004.12:1655363:C:T p.(Gly166Ser) NC_000004.12:1655363:C:T Identity +NM_001272049.2:c.1084C>T NP_001258978.1:p.Arg362Trp NC_000016.10:3666110:G:A p.(Arg362Trp) NC_000016.10:3666110:G:A p.(Arg362Trp) NC_000016.10:3666110:G:A Identity +NM_001009814.2:c.1250C>T NP_001009814.1:p.Ala417Val NC_000013.11:41865998:G:A p.(Ala417Val) NC_000013.11:41865998:G:A p.(Ala417Val) NC_000013.11:41865998:G:A Identity +NM_001039615.3:c.694C>A NP_001034704.2:p.Gln232Lys NC_000008.11:12112948:C:A p.(Gln232Lys) NC_000008.11:12112948:C:A p.(Gln232Lys) NC_000008.11:12112948:C:A Identity +NM_000323.2:c.1504G>T NP_000314.1:p.Val502Leu NC_000010.11:43111446:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.3143T>C NP_000314.1:p.Leu1048Pro NC_000010.11:43126677:T:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.1176C>G NP_000314.1:p.His392Gln NC_000010.11:43109142:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000323.2:c.1198G>T NP_000314.1:p.Val400Phe NC_000010.11:43109164:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_013321.4:c.482G>A NP_037453.1:p.Arg161Gln NC_000007.14:2271907:C:T p.(Arg161Gln) NC_000007.14:2271907:C:T p.(Arg161Gln) NC_000007.14:2271907:C:T Identity +NM_001104.4:c.1936C>T NP_001095.2:p.Arg646Trp NC_000011.10:66561301:C:T p.(Arg646Trp) NC_000011.10:66561301:C:T p.(Arg646Trp) NC_000011.10:66561301:C:T Identity +NM_001300881.2:c.401T>A NP_001287810.1:p.Leu134Gln NC_000019.10:7477316:A:T p.(Leu134Gln) NC_000019.10:7477316:A:T p.(Leu134Gln) NC_000019.10:7477316:A:T Identity +NM_001198951.1:c.186G>C NP_001185880.1:p.Lys62Asn NC_000002.12:86622688:C:G p.(Lys62Asn) NC_000002.12:86622688:C:G p.(Lys62Asn) NC_000002.12:86622688:C:G Identity +NM_001389643.1:c.1783G>A NP_001376572.1:p.Val595Ile NC_000019.10:57130457:G:A p.(Val595Ile) NC_000019.10:57130457:G:A p.(Val595Ile) NC_000019.10:57130457:G:A Identity +NM_001281748.3:c.962T>C NP_001268677.1:p.Met321Thr NC_000011.10:116874044:A:G p.(Met321Thr) NC_000011.10:116874044:A:G p.(Met321Thr) NC_000011.10:116874044:A:G Identity +NM_000876.4:c.2321C>T NP_000867.3:p.Thr774Met NC_000006.12:160047882:C:T p.(Thr774Met) NC_000006.12:160047882:C:T p.(Thr774Met) NC_000006.12:160047882:C:T Identity +NM_001286121.1:c.355C>A NP_001273050.1:p.Gln119Lys NC_000006.12:25770285:C:A p.(Gln119Lys) NC_000006.12:25770285:C:A p.(Gln119Lys) NC_000006.12:25770285:C:A Identity +NM_001038628.2:c.197C>T NP_001033717.1:p.Thr66Ile NC_000003.12:161086557:G:A p.(Thr66Ile) NC_000003.12:161086557:G:A p.(Thr66Ile) NC_000003.12:161086557:G:A Identity +NM_201589.4:c.262T>G NP_963883.2:p.Ser88Ala NC_000008.11:143430144:A:C p.(Ser88Ala) NC_000008.11:143430144:A:C p.(Ser88Ala) NC_000008.11:143430144:A:C Identity +NM_001167667.3:c.1665G>A NP_001161139.1:p.Ala555= NC_000005.10:19483408:C:T p.(Ala555=) NC_000005.10:19483408:C:T p.(Ala555=) NC_000005.10:19483408:C:T Identity +NM_001320714.2:c.2588T>C NP_001307643.1:p.Leu863Ser NC_000021.9:36233040:T:C p.(Leu863Ser) NC_000021.9:36233040:T:C p.(Leu863Ser) NC_000021.9:36233040:T:C Identity +NM_022454.4:c.493G>A NP_071899.1:p.Ala165Thr NC_000008.11:54459242:G:A p.(Ala165Thr) NC_000008.11:54459242:G:A p.(Ala165Thr) NC_000008.11:54459242:G:A Identity +NM_003106.4:c.568G>A NP_003097.1:p.Gly190Ser NC_000003.12:181712927:G:A p.(Gly190Ser) NC_000003.12:181712927:G:A p.(Gly190Ser) NC_000003.12:181712927:G:A Identity +NM_001195220.2:c.265G>A NP_001182149.1:p.Gly89Arg NC_000007.14:149266574:G:A p.(Gly89Arg) NC_000007.14:149266574:G:A p.(Gly89Arg) NC_000007.14:149266574:G:A Identity +NM_020343.4:c.2540C>A NP_065076.2:p.Thr847Asn NC_000020.11:20583216:G:T p.(Thr847Asn) NC_000020.11:20583216:G:T p.(Thr847Asn) NC_000020.11:20583216:G:T Identity +NM_001194990.2:c.142G>A NP_001181919.1:p.Val48Ile NC_000007.14:100431566:G:A p.(Val48Ile) NC_000007.14:100431566:G:A p.(Val48Ile) NC_000007.14:100431566:G:A Identity +NM_001007245.3:c.976C>A NP_001007246.1:p.His326Asn NC_000007.14:112468049:C:A p.(His326Asn) NC_000007.14:112468049:C:A p.(His326Asn) NC_000007.14:112468049:C:A Identity +NM_001134222.2:c.871T>G NP_001127694.1:p.Leu291Val NC_000005.10:2748836:A:C p.(Leu291Val) NC_000005.10:2748836:A:C p.(Leu291Val) NC_000005.10:2748836:A:C Identity +NM_005921.2:c.58A>G NP_005912.1:p.Thr20Ala NC_000005.10:56815630:A:G p.(Thr20Ala) NC_000005.10:56815630:A:G p.(Thr20Ala) NC_000005.10:56815630:A:G Identity +NM_001080497.3:c.106G>A NP_001073966.2:p.Ala36Thr NC_000009.12:120714252:C:T p.(Ala36Thr) NC_000009.12:120714252:C:T p.(Ala36Thr) NC_000009.12:120714252:C:T Identity +NM_001269040.2:c.500G>A NP_001255969.1:p.Ser167Asn NC_000020.11:57523705:C:T p.(Ser167Asn) NC_000020.11:57523705:C:T p.(Ser167Asn) NC_000020.11:57523705:C:T Identity +NM_018940.4:c.2353C>A NP_061763.1:p.Arg785Ser NC_000005.10:141175187:C:A p.(Arg785Ser) NC_000005.10:141175187:C:A p.(Arg785Ser) NC_000005.10:141175187:C:A Identity +NM_000436.4:c.718A>G NP_000427.1:p.Thr240Ala NC_000005.10:41840464:T:C p.(Thr240Ala) NC_000005.10:41840464:T:C p.(Thr240Ala) NC_000005.10:41840464:T:C Identity +NM_001009993.4:c.412C>G NP_001009993.2:p.Pro138Ala NC_000002.12:131055334:G:C p.(Pro138Ala) NC_000002.12:131055334:G:C p.(Pro138Ala) NC_000002.12:131055334:G:C Identity +NM_001037161.2:c.796C>T NP_001032238.1:p.Arg266Cys NC_000014.9:73543184:C:T p.(Arg266Cys) NC_000014.9:73543184:C:T p.(Arg266Cys) NC_000014.9:73543184:C:T Identity +NM_001304808.3:c.2203G>T NP_001291737.1:p.Gly735Cys NC_000022.11:49794189:C:A p.(Gly735Cys) NC_000022.11:49794189:C:A p.(Gly735Cys) NC_000022.11:49794189:C:A Identity +NM_001005167.2:c.271A>G NP_001005167.1:p.Ile91Val NC_000011.10:5841626:T:C p.(Ile91Val) NC_000011.10:5841626:T:C p.(Ile91Val) NC_000011.10:5841626:T:C Identity +NM_018904.3:c.1440G>C NP_061727.1:p.Gln480His NC_000005.10:140883707:G:C p.(Gln480His) NC_000005.10:140883707:G:C p.(Gln480His) NC_000005.10:140883707:G:C Identity +NM_033215.5:c.662G>C NP_149992.3:p.Gly221Ala NC_000023.11:49270530:G:C p.(Gly221Ala) NC_000023.11:49270530:G:C p.(Gly221Ala) NC_000023.11:49270530:G:C Identity +NM_001207004.2:c.776G>A NP_001193933.1:p.Arg259Gln NC_000004.12:69282567:G:A p.(Arg259Gln) NC_000004.12:69282567:G:A p.(Arg259Gln) NC_000004.12:69282567:G:A Identity +NM_004077.3:c.578A>C NP_004068.2:p.Lys193Thr NC_000012.12:56282429:T:G p.(Lys193Thr) NC_000012.12:56282429:T:G p.(Lys193Thr) NC_000012.12:56282429:T:G Identity +NM_002444.3:c.1552G>C NP_002435.1:p.Val518Leu NC_000023.11:65739176:G:C p.(Val518Leu) NC_000023.11:65739176:G:C p.(Val518Leu) NC_000023.11:65739176:G:C Identity +NM_206933.4:c.14210G>T NP_996816.3:p.Gly4737Val NC_000001.11:215650724:C:A p.(Gly4737Val) NC_000001.11:215650724:C:A p.(Gly4737Val) NC_000001.11:215650724:C:A Identity +NM_001017392.5:c.2038C>T NP_001017392.2:p.Arg680Trp NC_000019.10:19010154:G:A p.(Arg680Trp) NC_000019.10:19010154:G:A p.(Arg680Trp) NC_000019.10:19010154:G:A Identity +NM_145057.4:c.188C>A NP_659494.2:p.Pro63His NC_000019.10:54465359:G:T p.(Pro63His) NC_000019.10:54465359:G:T p.(Pro63His) NC_000019.10:54465359:G:T Identity +NM_001386095.1:c.422G>A NP_001373024.1:p.Cys141Tyr NC_000017.11:58155574:G:A p.(Cys141Tyr) NC_000017.11:58155574:G:A p.(Cys141Tyr) NC_000017.11:58155574:G:A Identity +NM_001287499.2:c.1723G>A NP_001274428.1:p.Val575Met NC_000007.14:2604970:G:A p.(Val575Met) NC_000007.14:2604970:G:A p.(Val575Met) NC_000007.14:2604970:G:A Identity +NM_006738.6:c.3275C>T NP_006729.4:p.Thr1092Ile NC_000015.10:85581342:C:T p.(Thr1092Ile) NC_000015.10:85581342:C:T p.(Thr1092Ile) NC_000015.10:85581342:C:T Identity +NM_005146.5:c.595G>A NP_005137.1:p.Asp199Asn NC_000011.10:65965381:G:A p.(Asp199Asn) NC_000011.10:65965381:G:A p.(Asp199Asn) NC_000011.10:65965381:G:A Identity +NM_001040653.4:c.1276T>C NP_001035743.1:p.Cys426Arg NC_000003.12:126466319:A:G p.(Cys426Arg) NC_000003.12:126466319:A:G p.(Cys426Arg) NC_000003.12:126466319:A:G Identity +NM_001323342.2:c.2842G>A NP_001310271.1:p.Val948Ile NC_000001.11:246877044:C:T p.(Val948Ile) NC_000001.11:246877044:C:T p.(Val948Ile) NC_000001.11:246877044:C:T Identity +NM_015057.5:c.9424T>C NP_055872.4:p.Phe3142Leu NC_000013.11:77097729:A:G p.(Phe3142Leu) NC_000013.11:77097729:A:G p.(Phe3142Leu) NC_000013.11:77097729:A:G Identity +NM_018903.4:c.1546A>C NP_061726.1:p.Lys516Gln NC_000005.10:140877017:A:C p.(Lys516Gln) NC_000005.10:140877017:A:C p.(Lys516Gln) NC_000005.10:140877017:A:C Identity +NM_001143804.2:c.575G>C NP_001137276.1:p.Ser192Thr NC_000017.11:49224549:C:G p.(Ser192Thr) NC_000017.11:49224549:C:G p.(Ser192Thr) NC_000017.11:49224549:C:G Identity +NM_020700.2:c.76G>A NP_065751.1:p.Gly26Ser NC_000012.12:62934660:C:T p.(Gly26Ser) NC_000012.12:62934660:C:T p.(Gly26Ser) NC_000012.12:62934660:C:T Identity +NM_001178030.2:c.370A>C NP_001171501.1:p.Lys124Gln NC_000011.10:64778022:T:G p.(Lys124Gln) NC_000011.10:64778022:T:G p.(Lys124Gln) NC_000011.10:64778022:T:G Identity +NM_032772.6:c.79G>A NP_116161.2:p.Gly27Ser NC_000010.11:75401340:C:T p.(Gly27Ser) NC_000010.11:75401340:C:T p.(Gly27Ser) NC_000010.11:75401340:C:T Identity +NM_001099625.2:c.570C>T NP_001093095.1:p.Thr190= NC_000001.11:25829626:C:T p.(Thr190=) NC_000001.11:25829626:C:T p.(Thr190=) NC_000001.11:25829626:C:T Identity +NM_001185092.2:c.293C>T NP_001172021.1:p.Thr98Met NC_000001.11:161119327:C:T p.(Thr98Met) NC_000001.11:161119327:C:T p.(Thr98Met) NC_000001.11:161119327:C:T Identity +NM_001247987.2:c.95T>C NP_001234916.1:p.Phe32Ser NC_000011.10:45254286:A:G p.(Phe32Ser) NC_000011.10:45254286:A:G p.(Phe32Ser) NC_000011.10:45254286:A:G Identity +NM_001012415.3:c.881C>T NP_001012415.3:p.Ala294Val NC_000009.12:135694451:G:A p.(Ala294Val) NC_000009.12:135694451:G:A p.(Ala294Val) NC_000009.12:135694451:G:A Identity +NM_031266.3:c.899A>G NP_112556.2:p.Tyr300Cys NC_000005.10:178210242:A:G p.(Tyr300Cys) NC_000005.10:178210242:A:G p.(Tyr300Cys) NC_000005.10:178210242:A:G Identity +NM_001127458.2:c.491A>G NP_001120930.1:p.Asn164Ser NC_000020.11:6034521:A:G p.(Asn164Ser) NC_000020.11:6034521:A:G p.(Asn164Ser) NC_000020.11:6034521:A:G Identity +NM_025145.7:c.1373T>C NP_079421.5:p.Val458Ala NC_000010.11:104193934:A:G p.(Val458Ala) NC_000010.11:104193934:A:G p.(Val458Ala) NC_000010.11:104193934:A:G Identity +NM_001318809.2:c.328C>T NP_001305738.1:p.Arg110Cys NC_000006.12:13320960:G:A p.(Arg110Cys) NC_000006.12:13320960:G:A p.(Arg110Cys) NC_000006.12:13320960:G:A Identity +NM_001130445.3:c.1112C>T NP_001123917.1:p.Thr371Met NC_000002.12:181902164:C:T p.(Thr371Met) NC_000002.12:181902164:C:T p.(Thr371Met) NC_000002.12:181902164:C:T Identity +NM_145255.4:c.240G>C NP_660298.2:p.Arg80Ser NC_000017.11:47827186:C:G p.(Arg80Ser) NC_000017.11:47827186:C:G p.(Arg80Ser) NC_000017.11:47827186:C:G Identity +NM_001639.4:c.338T>A NP_001630.1:p.Ile113Asn NC_000001.11:159588373:T:A p.(Ile113Asn) NC_000001.11:159588373:T:A p.(Ile113Asn) NC_000001.11:159588373:T:A Identity +NM_001042415.3:c.1069C>G NP_001035880.1:p.His357Asp NC_000008.11:245915:C:G p.(His357Asp) NC_000008.11:245915:C:G p.(His357Asp) NC_000008.11:245915:C:G Identity +NM_130770.3:c.833G>A NP_570126.2:p.Arg278His NC_000003.12:184059547:G:A p.(Arg278His) NC_000003.12:184059547:G:A p.(Arg278His) NC_000003.12:184059547:G:A Identity +NM_014503.3:c.553A>G NP_055318.2:p.Ile185Val NC_000012.12:101288996:A:G p.(Ile185Val) NC_000012.12:101288996:A:G p.(Ile185Val) NC_000012.12:101288996:A:G Identity +NM_000538.4:c.441C>A NP_000529.1:p.Ser147Arg NC_000013.11:36819797:C:A p.(Ser147Arg) NC_000013.11:36819797:C:A p.(Ser147Arg) NC_000013.11:36819797:C:A Identity +NM_000257.4:c.461TCT[1] NP_000248.2:p.Phe155del NC_000014.9:23432674:AGAAGA:AGA p.(Phe155del) NC_000014.9:23432679:A:AGA ERR:Parse ERR:Parse Identity +NM_001282352.2:c.1447C>T NP_001269281.1:p.Arg483Cys NC_000019.10:8585187:G:A p.(Arg483Cys) NC_000019.10:8585187:G:A p.(Arg483Cys) NC_000019.10:8585187:G:A Identity +NM_005245.4:c.10513A>T NP_005236.2:p.Arg3505Trp NC_000004.12:186604411:T:A p.(Arg3505Trp) NC_000004.12:186604411:T:A p.(Arg3505Trp) NC_000004.12:186604411:T:A Identity +NM_001198868.2:c.894G>A NP_001185797.1:p.Trp298Ter NC_000011.10:65188004:G:A p.(Trp298Ter) NC_000011.10:65188004:G:A p.(Trp298Ter) NC_000011.10:65188004:G:A Identity +NM_002066.3:c.28A>G NP_002057.1:p.Met10Val NC_000008.11:142840464:A:G p.(Met10Val) NC_000008.11:142840464:A:G p.(Met10Val) NC_000008.11:142840464:A:G Identity +NM_001135686.3:c.43G>A NP_001129158.2:p.Val15Met NC_000019.10:54075909:C:T p.(Val15Met) NC_000019.10:54075909:C:T p.(Val15Met) NC_000019.10:54075909:C:T Identity +NM_173651.4:c.14900A>T NP_775922.3:p.Asn4967Ile NC_000002.12:185804205:A:T p.(Asn4967Ile) NC_000002.12:185804205:A:T p.(Asn4967Ile) NC_000002.12:185804205:A:T Identity +NM_001172766.3:c.351G>C NP_001166237.1:p.Gln117His NC_000007.14:114628631:G:C p.(Gln117His) NC_000007.14:114628631:G:C p.(Gln117His) NC_000007.14:114628631:G:C Identity +NM_006785.4:c.1651C>T NP_006776.1:p.Arg551Ter NC_000018.10:58741911:C:T p.(Arg551Ter) NC_000018.10:58741911:C:T p.(Arg551Ter) NC_000018.10:58741911:C:T Identity +NM_001972.4:c.158A>C NP_001963.1:p.His53Pro NC_000019.10:852965:A:C p.(His53Pro) NC_000019.10:852965:A:C p.(His53Pro) NC_000019.10:852965:A:C Identity +NM_001143986.2:c.1519G>A NP_001137458.1:p.Val507Ile NC_000019.10:2993563:G:A p.(Val507Ile) NC_000019.10:2993563:G:A p.(Val507Ile) NC_000019.10:2993563:G:A Identity +NM_001848.3:c.117_119del NP_001839.2:p.Phe40del NC_000021.9:45982650:TTCTT:TT p.(Phe40del) NC_000021.9:45982650:TTCTT:TT p.(Phe40del) NC_000021.9:45982652:CTT: Identity +NM_003777.3:c.4097C>T NP_003768.2:p.Ala1366Val NC_000007.14:21616293:C:T ERR:Data provider error: ValueError: Transcript NM_003777.3 not found ERR:Data provider error: ValueError: Transcript NM_003777.3 not found ERR:AlignmentMapper(tx_ac=NM_003777.3, alt_ac=NM_003777.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_003777.3, alt_ac=NM_003777.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_003777.3 not found +NM_001080452.2:c.1075G>A NP_001073921.1:p.Val359Ile NC_000019.10:6732312:C:T p.(Val359Ile) NC_000019.10:6732312:C:T p.(Val359Ile) NC_000019.10:6732312:C:T Identity +NM_001257291.2:c.1865C>T NP_001244220.1:p.Thr622Ile NC_000023.11:46613352:G:A p.(Thr622Ile) NC_000023.11:46613352:G:A p.(Thr622Ile) NC_000023.11:46613352:G:A Identity +NM_001197327.2:c.1963G>A NP_001184256.1:p.Ala655Thr NC_000020.11:3752070:G:A p.(Ala655Thr) NC_000020.11:3752070:G:A p.(Ala655Thr) NC_000020.11:3752070:G:A Identity +NM_001042544.1:c.1985C>G NP_001036009.1:p.Ala662Gly NC_000019.10:40610630:C:G p.(Ala662Gly) NC_000019.10:40610630:C:G p.(Ala662Gly) NC_000019.10:40610630:C:G Identity +NM_003882.4:c.490C>T NP_003873.1:p.Arg164Cys NC_000008.11:133220720:C:T p.(Arg164Cys) NC_000008.11:133220720:C:T p.(Arg164Cys) NC_000008.11:133220720:C:T Identity +NM_152616.5:c.859G>A NP_689829.3:p.Glu287Lys NC_000003.12:140682978:G:A p.(Glu287Lys) NC_000003.12:140682978:G:A p.(Glu287Lys) NC_000003.12:140682978:G:A Identity +NM_001346505.2:c.758C>G NP_001333434.1:p.Pro253Arg NC_000006.12:148519576:C:G p.(Pro253Arg) NC_000006.12:148519576:C:G p.(Pro253Arg) NC_000006.12:148519576:C:G Identity +NM_153240.5:c.3094G>A NP_694972.3:p.Ala1032Thr NC_000003.12:132688680:C:T p.(Ala1032Thr) NC_000003.12:132688680:C:T p.(Ala1032Thr) NC_000003.12:132688680:C:T Identity +NM_001363813.1:c.199G>T NP_001350742.1:p.Gly67Trp NC_000017.11:65558421:C:A p.(Gly67Trp) NC_000017.11:65558421:C:A p.(Gly67Trp) NC_000017.11:65558421:C:A Identity +NM_005982.4:c.268G>A NP_005973.1:p.Ala90Thr NC_000014.9:60648921:C:T p.(Ala90Thr) NC_000014.9:60648921:C:T p.(Ala90Thr) NC_000014.9:60648921:C:T Identity +NM_001270949.2:c.443A>T NP_001257878.1:p.Asp148Val NC_000018.10:62358262:A:T p.(Asp148Val) NC_000018.10:62358262:A:T p.(Asp148Val) NC_000018.10:62358262:A:T Identity +NM_001372044.2:c.5287C>T NP_001358973.1:p.Arg1763Cys NC_000022.11:50731177:C:T ERR:TranscriptMismatch:expected C, found G at transcript indices 5656..5657 NC_000022.11:50731216:G:T ERR:NM_001372044.2:c.5287C>T: Variant reference (C) does not agree with reference sequence (G) ERR:NM_001372044.2:c.5287C>T: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001256532.1:c.100C>T NP_001243461.1:p.Arg34Ter NC_000001.11:155610439:C:T p.(Arg34Ter) NC_000001.11:155610439:C:T p.(Arg34Ter) NC_000001.11:155610439:C:T Identity +NM_001178075.2:c.290A>G NP_001171546.1:p.Asp97Gly NC_000007.14:97864392:T:C p.(Asp97Gly) NC_000007.14:97864392:T:C p.(Asp97Gly) NC_000007.14:97864392:T:C Identity +NM_000826.6:c.1849C>T NP_000817.5:p.Leu617Phe NC_000004.12:157341267:C:T p.(Leu617Phe) NC_000004.12:157341267:C:T p.(Leu617Phe) NC_000004.12:157341267:C:T Identity +NM_001080414.4:c.458C>A NP_001073883.2:p.Ala153Asp NC_000014.9:91342404:G:T p.(Ala153Asp) NC_000014.9:91342404:G:T p.(Ala153Asp) NC_000014.9:91342404:G:T Identity +NM_000548.5:c.1057_1059delinsTTT NP_000539.2:p.Leu353Phe NC_000016.10:2060750:CTC:TTT p.(Leu353Phe) NC_000016.10:2060750:CTC:TTT p.(Leu353Phe) NC_000016.10:2060750:CTC:TTT Identity +NM_014423.4:c.2140C>T NP_055238.1:p.Leu714Phe NC_000005.10:132896489:G:A p.(Leu714Phe) NC_000005.10:132896489:G:A p.(Leu714Phe) NC_000005.10:132896489:G:A Identity +NM_170606.3:c.6347T>C NP_733751.2:p.Phe2116Ser NC_000007.14:152181512:A:G p.(Phe2116Ser) NC_000007.14:152181512:A:G p.(Phe2116Ser) NC_000007.14:152181512:A:G Identity +NM_001141973.3:c.2525_2535del NP_001135445.1:p.Gln842fs NC_000001.11:16989749:GACAGTGCCCTG:G p.(Gln842LeufsTer7) NC_000001.11:16989749:GACAGTGCCCTG:G p.(Gln842LeufsTer7) NC_000001.11:16989749:GACAGTGCCCT: Analogous +NM_005862.3:c.3506A>G NP_005853.2:p.Asp1169Gly NC_000003.12:136341491:T:C p.(Asp1169Gly) NC_000003.12:136341491:T:C p.(Asp1169Gly) NC_000003.12:136341491:T:C Identity +NM_001206833.2:c.1378G>A NP_001193762.1:p.Asp460Asn NC_000011.10:65719073:G:A p.(Asp460Asn) NC_000011.10:65719073:G:A p.(Asp460Asn) NC_000011.10:65719073:G:A Identity +NM_001130861.1:c.442C>A NP_001124333.1:p.Gln148Lys NC_000022.11:19524068:G:T p.(Gln148Lys) NC_000022.11:19524068:G:T p.(Gln148Lys) NC_000022.11:19524068:G:T Identity +NM_000593.6:c.884del NP_000584.3:p.Leu295fs NC_000006.12:32851109:A: p.(Leu295ArgfsTer5) NC_000006.12:32851109:A: p.(Leu295ArgfsTer5) NC_000006.12:32851109:A: Analogous +NM_000052.7:c.1135del NP_000043.4:p.Thr379fs NC_000023.11:77989754:AAA:AA p.(Thr379LeufsTer2) NC_000023.11:77989754:AAA:AA p.(Thr379LeufsTer2) NC_000023.11:77989756:A: Analogous +NM_170606.3:c.4845G>A NP_733751.2:p.Trp1615Ter NC_000007.14:152187424:C:T p.(Trp1615Ter) NC_000007.14:152187424:C:T p.(Trp1615Ter) NC_000007.14:152187424:C:T Identity +NM_001347997.2:c.4234C>T NP_001334926.1:p.Arg1412Ter NC_000009.12:106974269:C:T p.(Arg1412Ter) NC_000009.12:106974269:C:T p.(Arg1412Ter) NC_000009.12:106974269:C:T Identity +NM_001378120.1:c.1227G>C NP_001365049.1:p.Leu409Phe NC_000002.12:148469169:G:C p.(Leu409Phe) NC_000002.12:148469169:G:C p.(Leu409Phe) NC_000002.12:148469169:G:C Identity +NM_001346813.1:c.3472A>T NP_001333742.1:p.Lys1158Ter NC_000006.12:157184236:A:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_000091.5:c.1087G>T NP_000082.2:p.Gly363Trp NC_000002.12:227259849:G:T p.(Gly363Trp) NC_000002.12:227259849:G:T p.(Gly363Trp) NC_000002.12:227259849:G:T Identity +NM_002335.4:c.754T>G NP_002326.2:p.Trp252Gly NC_000011.10:68363813:T:G p.(Trp252Gly) NC_000011.10:68363813:T:G p.(Trp252Gly) NC_000011.10:68363813:T:G Identity +NM_001291415.2:c.1462A>C NP_001278344.1:p.Lys488Gln NC_000023.11:45060740:A:C p.(Lys488Gln) NC_000023.11:45060740:A:C p.(Lys488Gln) NC_000023.11:45060740:A:C Identity +NM_001130066.2:c.2585C>T NP_001123538.1:p.Ser862Leu NC_000006.12:33443178:C:T p.(Ser862Leu) NC_000006.12:33443178:C:T p.(Ser862Leu) NC_000006.12:33443178:C:T Identity +NM_001394062.1:c.15619A>G NP_001380991.1:p.Lys5207Glu NC_000001.11:39388460:A:G p.(Lys5207Glu) NC_000001.11:39388460:A:G p.(Lys5207Glu) NC_000001.11:39388460:A:G Identity +NM_001362770.2:c.52C>T NP_001349699.1:p.His18Tyr NC_000020.11:508499:G:A p.(His18Tyr) NC_000020.11:508499:G:A p.(His18Tyr) NC_000020.11:508499:G:A Identity +NM_001254734.2:c.1850C>A NP_001241663.1:p.Ala617Asp NC_000020.11:2432505:C:A p.(Ala617Asp) NC_000020.11:2432505:C:A p.(Ala617Asp) NC_000020.11:2432505:C:A Identity +NM_002653.5:c.551G>C NP_002644.4:p.Trp184Ser NC_000005.10:135029172:C:G p.(Trp184Ser) NC_000005.10:135029172:C:G p.(Trp184Ser) NC_000005.10:135029172:C:G Identity +NM_000051.4:c.3928C>T NP_000042.3:p.Gln1310Ter NC_000011.10:108284407:C:T p.(Gln1310Ter) NC_000011.10:108284407:C:T p.(Gln1310Ter) NC_000011.10:108284407:C:T Identity +NM_006015.6:c.3062A>G NP_006006.3:p.Lys1021Arg NC_000001.11:26767862:A:G p.(Lys1021Arg) NC_000001.11:26767862:A:G p.(Lys1021Arg) NC_000001.11:26767862:A:G Identity +NM_000044.6:c.2270A>G NP_000035.2:p.Asn757Ser NC_000023.11:67717573:A:G p.(Asn757Ser) NC_000023.11:67717573:A:G p.(Asn757Ser) NC_000023.11:67717573:A:G Identity +NM_000092.5:c.3357G>C NP_000083.3:p.Arg1119Ser NC_000002.12:227043116:C:G p.(Arg1119Ser) NC_000002.12:227043116:C:G p.(Arg1119Ser) NC_000002.12:227043116:C:G Identity +NM_001113491.2:c.1672G>A NP_001106963.1:p.Glu558Lys NC_000017.11:77498568:G:A p.(Glu558Lys) NC_000017.11:77498568:G:A p.(Glu558Lys) NC_000017.11:77498568:G:A Identity +NM_030632.3:c.5414del NP_085135.1:p.Pro1805fs NC_000018.10:33745260:CC:C p.(Pro1805GlnfsTer16) NC_000018.10:33745260:CC:C p.(Pro1805GlnfsTer16) NC_000018.10:33745261:C: Analogous +NM_001079846.1:c.1094A>C NP_001073315.1:p.His365Pro NC_000016.10:3793507:T:G p.(His365Pro) NC_000016.10:3793507:T:G p.(His365Pro) NC_000016.10:3793507:T:G Identity +NM_001065.4:c.796C>A NP_001056.1:p.Pro266Thr NC_000012.12:6330038:G:T p.(Pro266Thr) NC_000012.12:6330038:G:T p.(Pro266Thr) NC_000012.12:6330038:G:T Identity +NM_014704.4:c.1078G>A NP_055519.1:p.Asp360Asn NC_000001.11:3837332:C:T p.(Asp360Asn) NC_000001.11:3837332:C:T p.(Asp360Asn) NC_000001.11:3837332:C:T Identity +NM_001278055.2:c.5443G>C NP_001264984.1:p.Gly1815Arg NC_000013.11:23337991:C:G p.(Gly1815Arg) NC_000013.11:23337991:C:G p.(Gly1815Arg) NC_000013.11:23337991:C:G Identity +NM_000130.5:c.4844A>G NP_000121.2:p.Tyr1615Cys NC_000001.11:169536632:T:C p.(Tyr1615Cys) NC_000001.11:169536632:T:C p.(Tyr1615Cys) NC_000001.11:169536632:T:C Identity +NM_001256267.2:c.400G>A NP_001243196.1:p.Glu134Lys NC_000010.11:68121837:G:A p.(Glu134Lys) NC_000010.11:68121837:G:A p.(Glu134Lys) NC_000010.11:68121837:G:A Identity +NM_133437.4:c.34829G>A NP_597681.4:p.Arg11610His NC_000002.12:178590276:C:T p.(Arg11610His) NC_000002.12:178590276:C:T p.(Arg11610His) NC_000002.12:178590276:C:T Identity +NM_001287491.2:c.4851del NP_001274420.1:p.Ser1618fs NC_000002.12:74101633:CCCCCC:CCCCC p.(Ser1618AlafsTer5) NC_000002.12:74101633:CCCCCC:CCCCC p.(Ser1618AlafsTer5) NC_000002.12:74101638:C: Analogous +NM_000089.4:c.3584G>C NP_000080.2:p.Cys1195Ser NC_000007.14:94428349:G:C p.(Cys1195Ser) NC_000007.14:94428349:G:C p.(Cys1195Ser) NC_000007.14:94428349:G:C Identity +NM_002035.4:c.544G>A NP_002026.1:p.Gly182Ser NC_000018.10:63350952:C:T p.(Gly182Ser) NC_000018.10:63350952:C:T p.(Gly182Ser) NC_000018.10:63350952:C:T Identity +NM_000278.5:c.871G>T NP_000269.3:p.Glu291Ter NC_000010.11:100809187:G:T p.(Glu291Ter) NC_000010.11:100809187:G:T p.(Glu291Ter) NC_000010.11:100809187:G:T Identity +NM_001134673.4:c.198G>C NP_001128145.1:p.Glu66Asp NC_000001.11:61088318:G:C p.(Glu66Asp) NC_000001.11:61088318:G:C p.(Glu66Asp) NC_000001.11:61088318:G:C Identity +NM_001321309.2:c.5039A>G NP_001308238.1:p.Gln1680Arg NC_000003.12:123614282:T:C p.(Gln1680Arg) NC_000003.12:123614282:T:C p.(Gln1680Arg) NC_000003.12:123614282:T:C Identity +NM_001362770.2:c.221A>G NP_001349699.1:p.Lys74Arg NC_000020.11:499926:T:C p.(Lys74Arg) NC_000020.11:499926:T:C p.(Lys74Arg) NC_000020.11:499926:T:C Identity +NM_012203.2:c.160G>A NP_036335.1:p.Gly54Ser NC_000009.12:37424920:G:A p.(Gly54Ser) NC_000009.12:37424920:G:A p.(Gly54Ser) NC_000009.12:37424920:G:A Identity +NM_000552.5:c.270A>C NP_000543.3:p.Glu90Asp NC_000012.12:6110918:T:G p.(Glu90Asp) NC_000012.12:6110918:T:G p.(Glu90Asp) NC_000012.12:6110918:T:G Identity +NM_015001.3:c.3613C>T NP_055816.2:p.Arg1205Cys NC_000001.11:15929852:C:T p.(Arg1205Cys) NC_000001.11:15929852:C:T p.(Arg1205Cys) NC_000001.11:15929852:C:T Identity +NM_001256850.1:c.86344G>A NP_001243779.1:p.Val28782Ile NC_000002.12:178551632:C:T p.(Val28782Ile) NC_000002.12:178551632:C:T p.(Val28782Ile) NC_000002.12:178551632:C:T Identity +NM_000492.4:c.1709T>A NP_000483.3:p.Leu570Ter NC_000007.14:117590381:T:A p.(Leu570Ter) NC_000007.14:117590381:T:A p.(Leu570Ter) NC_000007.14:117590381:T:A Identity +NM_001407900.1:c.3507del NP_001394829.1:p.Gln1170fs NC_000017.11:43091813:A: p.(Gln1170SerfsTer24) NC_000017.11:43091813:A: p.(Gln1170SerfsTer24) NC_000017.11:43091813:A: Analogous +NM_001146702.2:c.1750A>G NP_001140174.1:p.Met584Val NC_000023.11:53201659:T:C p.(Met584Val) NC_000023.11:53201659:T:C p.(Met584Val) NC_000023.11:53201659:T:C Identity +NM_000348.4:c.683C>G NP_000339.2:p.Ala228Gly NC_000002.12:31529321:G:C p.(Ala228Gly) NC_000002.12:31529321:G:C p.(Ala228Gly) NC_000002.12:31529321:G:C Identity +NM_000494.4:c.3542G>C NP_000485.3:p.Gly1181Ala NC_000010.11:104035339:C:G p.(Gly1181Ala) NC_000010.11:104035339:C:G p.(Gly1181Ala) NC_000010.11:104035339:C:G Identity +NM_000059.4:c.2802dup NP_000050.3:p.Asp935Ter NC_000013.11:32337156:T:TT p.(Asp935Ter) NC_000013.11:32337156:T:TT p.(Asp935Ter) ERR:SPDI Identity +NM_000492.4:c.3683A>G NP_000483.3:p.Glu1228Gly NC_000007.14:117627735:A:G p.(Glu1228Gly) NC_000007.14:117627735:A:G p.(Glu1228Gly) NC_000007.14:117627735:A:G Identity +NM_005614.4:c.487A>G NP_005605.1:p.Ile163Val NC_000007.14:151467186:T:C p.(Ile163Val) NC_000007.14:151467186:T:C p.(Ile163Val) NC_000007.14:151467186:T:C Identity +NM_000813.3:c.720A>C NP_000804.1:p.Arg240Ser NC_000005.10:161334863:T:G p.(Arg240Ser) NC_000005.10:161334863:T:G p.(Arg240Ser) NC_000005.10:161334863:T:G Identity +NM_001287819.3:c.1903G>C NP_001274748.1:p.Val635Leu NC_000001.11:196333940:C:G p.(Val635Leu) NC_000001.11:196333940:C:G p.(Val635Leu) NC_000001.11:196333940:C:G Identity +NM_000102.4:c.327dup NP_000093.1:p.Lys110Ter NC_000010.11:102835362:A:AA p.(Lys110Ter) NC_000010.11:102835362:A:AA p.(Lys110Ter) ERR:SPDI Identity +NM_004459.7:c.6494C>T NP_004450.3:p.Thr2165Ile NC_000017.11:67929452:C:T p.(Thr2165Ile) NC_000017.11:67929452:C:T p.(Thr2165Ile) NC_000017.11:67929452:C:T Identity +NM_003482.4:c.5387G>A NP_003473.3:p.Arg1796Gln NC_000012.12:49043714:C:T p.(Arg1796Gln) NC_000012.12:49043714:C:T p.(Arg1796Gln) NC_000012.12:49043714:C:T Identity +NM_001166018.2:c.353A>G NP_001159490.1:p.Asn118Ser NC_000007.14:39207461:A:G p.(Asn118Ser) NC_000007.14:39207461:A:G p.(Asn118Ser) NC_000007.14:39207461:A:G Identity +NM_000218.3:c.817C>A NP_000209.2:p.Leu273Ile NC_000011.10:2572881:C:A p.(Leu273Ile) NC_000011.10:2572881:C:A p.(Leu273Ile) NC_000011.10:2572881:C:A Identity +NM_001008844.3:c.4043_4044dup NP_001008844.1:p.Gly1349fs NC_000006.12:7583099:ATAT:ATATAT p.(Gly1349MetfsTer25) NC_000006.12:7583099:ATAT:ATATAT p.(Gly1349MetfsTer25) ERR:SPDI Analogous +NM_004415.4:c.4336C>T NP_004406.2:p.Gln1446Ter NC_000006.12:7580525:C:T p.(Gln1446Ter) NC_000006.12:7580525:C:T p.(Gln1446Ter) NC_000006.12:7580525:C:T Identity +NM_000444.6:c.2018T>C NP_000435.3:p.Leu673Pro NC_000023.11:22227558:T:C p.(Leu673Pro) NC_000023.11:22227558:T:C p.(Leu673Pro) NC_000023.11:22227558:T:C Identity +NM_001174116.3:c.1061C>G NP_001167587.1:p.Ala354Gly NC_000015.10:51542376:G:C p.(Ala354Gly) NC_000015.10:51542376:G:C p.(Ala354Gly) NC_000015.10:51542376:G:C Identity +NM_001256850.1:c.81217G>T NP_001243779.1:p.Gly27073Ter NC_000002.12:178559991:C:A p.(Gly27073Ter) NC_000002.12:178559991:C:A p.(Gly27073Ter) NC_000002.12:178559991:C:A Identity +NM_000059.4:c.6841G>T NP_000050.3:p.Gly2281Ter NC_000013.11:32341195:G:T p.(Gly2281Ter) NC_000013.11:32341195:G:T p.(Gly2281Ter) NC_000013.11:32341195:G:T Identity +NM_001394062.1:c.20911C>A NP_001380991.1:p.Gln6971Lys NC_000001.11:39454932:C:A p.(Gln6971Lys) NC_000001.11:39454932:C:A p.(Gln6971Lys) NC_000001.11:39454932:C:A Identity +NM_001294332.2:c.1841G>C NP_001281261.1:p.Arg614Pro NC_000005.10:256409:G:C p.(Arg614Pro) NC_000005.10:256409:G:C p.(Arg614Pro) NC_000005.10:256409:G:C Identity +NM_015384.5:c.4240G>C NP_056199.2:p.Val1414Leu NC_000005.10:37008007:G:C p.(Val1414Leu) NC_000005.10:37008007:G:C p.(Val1414Leu) NC_000005.10:37008007:G:C Identity +NM_001282531.3:c.2093A>G NP_001269460.1:p.Asp698Gly NC_000020.11:50892620:T:C p.(Asp698Gly) NC_000020.11:50892620:T:C p.(Asp698Gly) NC_000020.11:50892620:T:C Identity +NM_001031714.4:c.286del NP_001026884.3:p.Leu96fs NC_000014.9:104701648:CCC:CC p.(Leu96CysfsTer14) NC_000014.9:104701648:CCC:CC p.(Leu96CysfsTer14) NC_000014.9:104701650:C: Analogous +NM_001293306.2:c.1209G>C NP_001280235.2:p.Gln403His NC_000003.12:38756754:C:G p.(Gln403His) NC_000003.12:38756754:C:G p.(Gln403His) NC_000003.12:38756754:C:G Identity +NM_033071.5:c.15532A>G NP_149062.2:p.Thr5178Ala NC_000006.12:152323649:T:C p.(Thr5178Ala) NC_000006.12:152323649:T:C p.(Thr5178Ala) NC_000006.12:152323649:T:C Identity +NM_001170415.1:c.3116A>G NP_001163886.1:p.Asp1039Gly NC_000009.12:69251257:A:G p.(Asp1039Gly) NC_000009.12:69251257:A:G p.(Asp1039Gly) NC_000009.12:69251257:A:G Identity +NM_007208.4:c.467G>A NP_009139.1:p.Arg156His NC_000003.12:131498179:C:T p.(Arg156His) NC_000003.12:131498179:C:T p.(Arg156His) NC_000003.12:131498179:C:T Identity +NM_001172435.2:c.2874C>G NP_001165906.1:p.Tyr958Ter NC_000002.12:135168687:C:G p.(Tyr958Ter) NC_000002.12:135168687:C:G p.(Tyr958Ter) NC_000002.12:135168687:C:G Identity +NM_001130020.3:c.1504C>T NP_001123492.1:p.Arg502Trp NC_000017.11:42495638:C:T p.(Arg502Trp) NC_000017.11:42495638:C:T p.(Arg502Trp) NC_000017.11:42495638:C:T Identity +NM_001363711.2:c.1111A>C NP_001350640.1:p.Asn371His NC_000015.10:45109909:T:G p.(Asn371His) NC_000015.10:45109909:T:G p.(Asn371His) NC_000015.10:45109909:T:G Identity +NM_001080114.2:c.1315C>T NP_001073583.1:p.Pro439Ser NC_000010.11:86716739:C:T p.(Pro439Ser) NC_000010.11:86716739:C:T p.(Pro439Ser) NC_000010.11:86716739:C:T Identity +NM_001143885.2:c.1681G>A NP_001137357.1:p.Asp561Asn NC_000012.12:79806307:C:T p.(Asp561Asn) NC_000012.12:79806307:C:T p.(Asp561Asn) NC_000012.12:79806307:C:T Identity +NM_001271620.2:c.3232C>G NP_001258549.1:p.His1078Asp NC_000016.10:49635739:G:C p.(His1078Asp) NC_000016.10:49635739:G:C p.(His1078Asp) NC_000016.10:49635739:G:C Identity +NM_001102398.3:c.226G>T NP_001095868.1:p.Ala76Ser NC_000001.11:23338539:C:A p.(Ala76Ser) NC_000001.11:23338539:C:A p.(Ala76Ser) NC_000001.11:23338539:C:A Identity +NM_001284214.2:c.16A>G NP_001271143.1:p.Asn6Asp NC_000002.12:229880063:T:C p.(Asn6Asp) NC_000002.12:229880063:T:C p.(Asn6Asp) NC_000002.12:229880063:T:C Identity +NM_001178015.2:c.2314A>G NP_001171486.1:p.Met772Val NC_000002.12:161949195:A:G p.(Met772Val) NC_000002.12:161949195:A:G p.(Met772Val) NC_000002.12:161949195:A:G Identity +NM_001170629.2:c.1573T>G NP_001164100.1:p.Ser525Ala NC_000014.9:21427896:A:C p.(Ser525Ala) NC_000014.9:21427896:A:C p.(Ser525Ala) NC_000014.9:21427896:A:C Identity +NM_001277115.2:c.2410A>G NP_001264044.1:p.Thr804Ala NC_000007.14:21591319:A:G p.(Thr804Ala) NC_000007.14:21591319:A:G p.(Thr804Ala) NC_000007.14:21591319:A:G Identity +NM_033118.3:c.166delG NP_149109.1:p.Ala56Profs NC_000020.11:31820238:G: ERR:Data provider error: ValueError: Transcript NM_033118.3 not found ERR:Data provider error: ValueError: Transcript NM_033118.3 not found ERR:AlignmentMapper(tx_ac=NM_033118.3, alt_ac=NM_033118.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033118.3, alt_ac=NM_033118.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033118.3 not found +NM_001014797.3:c.858G>T NP_001014797.1:p.Leu286Phe NC_000010.11:77120998:C:A p.(Leu286Phe) NC_000010.11:77120998:C:A p.(Leu286Phe) NC_000010.11:77120998:C:A Identity +NM_001031804.3:c.871C>G NP_001026974.1:p.Gln291Glu NC_000016.10:79599031:G:C p.(Gln291Glu) NC_000016.10:79599031:G:C p.(Gln291Glu) NC_000016.10:79599031:G:C Identity +NM_001291860.2:c.3902A>G NP_001278789.1:p.Glu1301Gly NC_000001.11:21872749:T:C p.(Glu1301Gly) NC_000001.11:21872749:T:C p.(Glu1301Gly) NC_000001.11:21872749:T:C Identity +NM_001363864.1:c.455T>G NP_001350793.1:p.Leu152Trp NC_000002.12:60462354:A:C p.(Leu152Trp) NC_000002.12:60462354:A:C p.(Leu152Trp) NC_000002.12:60462354:A:C Identity +NM_000555.3:c.1282C>T NP_000546.2:p.Pro428Ser NC_000023.11:111301730:G:A p.(Pro428Ser) NC_000023.11:111301730:G:A p.(Pro428Ser) NC_000023.11:111301730:G:A Identity +NM_000261.2:c.216T>G NP_000252.1:p.His72Gln NC_000001.11:171652395:A:C p.(His72Gln) NC_000001.11:171652395:A:C p.(His72Gln) NC_000001.11:171652395:A:C Identity +NM_000492.4:c.1842C>A NP_000483.3:p.Asp614Glu NC_000007.14:117592008:C:A p.(Asp614Glu) NC_000007.14:117592008:C:A p.(Asp614Glu) NC_000007.14:117592008:C:A Identity +NM_001256182.2:c.5551T>C NP_001243111.1:p.Tyr1851His NC_000016.10:89280990:A:G p.(Tyr1851His) NC_000016.10:89280990:A:G p.(Tyr1851His) NC_000016.10:89280990:A:G Identity +NM_001111125.3:c.3931G>A NP_001104595.1:p.Ala1311Thr NC_000023.11:53234754:C:T p.(Ala1311Thr) NC_000023.11:53234754:C:T p.(Ala1311Thr) NC_000023.11:53234754:C:T Identity +NM_001278192.2:c.368_369del NP_001265121.1:p.Gln123fs NC_000011.10:62633256:CT: p.(Gln123ArgfsTer7) NC_000011.10:62633256:CT: p.(Gln123ArgfsTer7) NC_000011.10:62633256:CT: Analogous +NM_007317.3:c.146G>A NP_015556.1:p.Arg49Gln NC_000016.10:29796967:G:A p.(Arg49Gln) NC_000016.10:29796967:G:A p.(Arg49Gln) NC_000016.10:29796967:G:A Identity +NM_001079846.1:c.6019C>T NP_001073315.1:p.Gln2007Ter NC_000016.10:3728913:G:A p.(Gln2007Ter) NC_000016.10:3728913:G:A p.(Gln2007Ter) NC_000016.10:3728913:G:A Identity +NM_001174081.3:c.1010G>A NP_001167552.1:p.Arg337Gln NC_000019.10:54982707:G:A p.(Arg337Gln) NC_000019.10:54982707:G:A p.(Arg337Gln) NC_000019.10:54982707:G:A Identity +NM_000296.4:c.8303T>A NP_000287.4:p.Val2768Glu NC_000016.10:2103753:A:T p.(Val2768Glu) NC_000016.10:2103753:A:T p.(Val2768Glu) NC_000016.10:2103753:A:T Identity +NM_006015.6:c.275G>A NP_006006.3:p.Gly92Asp NC_000001.11:26696677:G:A p.(Gly92Asp) NC_000001.11:26696677:G:A p.(Gly92Asp) NC_000001.11:26696677:G:A Identity +NM_000068.4:c.1346T>C NP_000059.3:p.Val449Ala NC_000019.10:13330245:A:G p.(Val449Ala) NC_000019.10:13330245:A:G p.(Val449Ala) NC_000019.10:13330245:A:G Identity +NM_001350859.2:c.512G>A NP_001337788.1:p.Arg171His NC_000003.12:134620780:C:T p.(Arg171His) NC_000003.12:134620780:C:T p.(Arg171His) NC_000003.12:134620780:C:T Identity +NM_001994.3:c.1406A>G NP_001985.2:p.Lys469Arg NC_000001.11:197052782:T:C p.(Lys469Arg) NC_000001.11:197052782:T:C p.(Lys469Arg) NC_000001.11:197052782:T:C Identity +NM_001999.4:c.2750A>T NP_001990.2:p.Lys917Ile NC_000005.10:128350929:T:A p.(Lys917Ile) NC_000005.10:128350929:T:A p.(Lys917Ile) NC_000005.10:128350929:T:A Identity +NM_181798.2:c.639T>G NP_861463.1:p.Phe213Leu NC_000011.10:2583532:T:G p.(Phe213Leu) NC_000011.10:2583532:T:G p.(Phe213Leu) NC_000011.10:2583532:T:G Identity +NM_001311193.2:c.1418G>A NP_001298122.2:p.Arg473Gln NC_000001.11:186965426:G:A p.(Arg473Gln) NC_000001.11:186965426:G:A p.(Arg473Gln) NC_000001.11:186965426:G:A Identity +NM_000503.6:c.845_852del NP_000494.2:p.Ser282fs NC_000008.11:71271871:TGATGGGCTG:TG p.(Ser282AsnfsTer4) NC_000008.11:71271871:TGATGGGCTG:TG p.(Ser282AsnfsTer4) NC_000008.11:71271871:TGATGGGC: Analogous +NM_001170629.2:c.2849C>G NP_001164100.1:p.Ala950Gly NC_000014.9:21406913:G:C p.(Ala950Gly) NC_000014.9:21406913:G:C p.(Ala950Gly) NC_000014.9:21406913:G:C Identity +NM_173495.3:c.170C>A NP_775766.2:p.Ala57Glu NC_000023.11:23335044:C:A p.(Ala57Glu) NC_000023.11:23335044:C:A p.(Ala57Glu) NC_000023.11:23335044:C:A Identity +NM_001406466.1:c.544T>C NP_001393395.1:p.Cys182Arg NC_000010.11:88939659:A:G p.(Cys182Arg) NC_000010.11:88939659:A:G p.(Cys182Arg) NC_000010.11:88939659:A:G Identity +NM_000455.5:c.440G>T NP_000446.1:p.Arg147Leu NC_000019.10:1219388:G:T p.(Arg147Leu) NC_000019.10:1219388:G:T p.(Arg147Leu) NC_000019.10:1219388:G:T Identity +NM_001321961.2:c.674A>T NP_001308890.1:p.Asp225Val NC_000008.11:132625433:T:A p.(Asp225Val) NC_000008.11:132625433:T:A p.(Asp225Val) NC_000008.11:132625433:T:A Identity +NM_001018064.3:c.2374C>T NP_001018074.1:p.Arg792Ter NC_000009.12:85021341:C:T p.(Arg792Ter) NC_000009.12:85021341:C:T p.(Arg792Ter) NC_000009.12:85021341:C:T Identity +NM_002547.3:c.2401G>T NP_002538.1:p.Glu801Ter NC_000023.11:68048431:C:A p.(Glu801Ter) NC_000023.11:68048431:C:A p.(Glu801Ter) NC_000023.11:68048431:C:A Identity +NM_001142864.4:c.1930G>C NP_001136336.2:p.Val644Leu NC_000016.10:88734716:C:G p.(Val644Leu) NC_000016.10:88734716:C:G p.(Val644Leu) NC_000016.10:88734716:C:G Identity +NM_001077399.3:c.16G>T NP_001070867.1:p.Ala6Ser NC_000002.12:218270550:G:T p.(Ala6Ser) NC_000002.12:218270550:G:T p.(Ala6Ser) NC_000002.12:218270550:G:T Identity +NM_001046.3:c.1889G>C NP_001037.1:p.Cys630Ser NC_000005.10:128148760:G:C p.(Cys630Ser) NC_000005.10:128148760:G:C p.(Cys630Ser) NC_000005.10:128148760:G:C Identity +NM_001394062.1:c.16106C>T NP_001380991.1:p.Ser5369Phe NC_000001.11:39422856:C:T p.(Ser5369Phe) NC_000001.11:39422856:C:T p.(Ser5369Phe) NC_000001.11:39422856:C:T Identity +NM_003906.5:c.2317A>G NP_003897.2:p.Lys773Glu NC_000021.9:46272708:T:C p.(Lys773Glu) NC_000021.9:46272708:T:C p.(Lys773Glu) NC_000021.9:46272708:T:C Identity +NM_005677.4:c.827_843del NP_005668.2:p.Met276fs NC_000003.12:15458296:TTCCCCTTTGGGTCCCATT:TT p.(Met276LysfsTer20) NC_000003.12:15458296:TTCCCCTTTGGGTCCCATT:TT p.(Met276LysfsTer20) NC_000003.12:15458296:TTCCCCTTTGGGTCCCA: Analogous +NM_000833.5:c.2511G>A NP_000824.1:p.Trp837Ter NC_000016.10:9768934:C:T p.(Trp837Ter) NC_000016.10:9768934:C:T p.(Trp837Ter) NC_000016.10:9768934:C:T Identity +NM_001368395.3:c.3219del NP_001355324.1:p.Lys1074fs NC_000023.11:12717930:GGGG:GGG p.(Lys1074ArgfsTer40) NC_000023.11:12717930:GGGG:GGG p.(Lys1074ArgfsTer40) NC_000023.11:12717933:G: Analogous +NM_000138.5:c.6370T>C NP_000129.3:p.Ser2124Pro NC_000015.10:48437330:A:G p.(Ser2124Pro) NC_000015.10:48437330:A:G p.(Ser2124Pro) NC_000015.10:48437330:A:G Identity +NM_001379343.1:c.86C>A NP_001366272.1:p.Ser29Ter NC_000015.10:52153946:G:T p.(Ser29Ter) NC_000015.10:52153946:G:T p.(Ser29Ter) NC_000015.10:52153946:G:T Identity +NM_001349253.2:c.664C>A NP_001336182.1:p.Arg222Ser NC_000003.12:38925462:G:T p.(Arg222Ser) NC_000003.12:38925462:G:T p.(Arg222Ser) NC_000003.12:38925462:G:T Identity +NM_001197104.2:c.4597T>C NP_001184033.1:p.Cys1533Arg NC_000011.10:118490149:T:C p.(Cys1533Arg) NC_000011.10:118490149:T:C p.(Cys1533Arg) NC_000011.10:118490149:T:C Identity +NM_000051.4:c.2458A>T NP_000042.3:p.Lys820Ter NC_000011.10:108259066:A:T p.(Lys820Ter) NC_000011.10:108259066:A:T p.(Lys820Ter) NC_000011.10:108259066:A:T Identity +NM_000516.7:c.1165C>T NP_000507.1:p.Arg389Cys NC_000020.11:58910808:C:T p.(Arg389Cys) NC_000020.11:58910808:C:T p.(Arg389Cys) NC_000020.11:58910808:C:T Identity +NM_031475.3:c.1702T>C NP_113663.2:p.Ser568Pro NC_000001.11:6448877:T:C p.(Ser568Pro) NC_000001.11:6448877:T:C p.(Ser568Pro) NC_000001.11:6448877:T:C Identity +NM_032119.4:c.15044T>C NP_115495.3:p.Ile5015Thr NC_000005.10:90810303:T:C p.(Ile5015Thr) NC_000005.10:90810303:T:C p.(Ile5015Thr) NC_000005.10:90810303:T:C Identity +NM_001308133.2:c.3704G>C NP_001295062.1:p.Gly1235Ala NC_000014.9:45176535:G:C p.(Gly1235Ala) NC_000014.9:45176535:G:C p.(Gly1235Ala) NC_000014.9:45176535:G:C Identity +NM_007230.1:c.1696G>A NP_009161.1:p.Glu566Lys NC_000009.12:137107569:G:A ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_078487.2:c.178C>T NP_511042.1:p.Arg60Cys NC_000009.12:22008775:G:A p.(Arg60Cys) NC_000009.12:22008775:G:A p.(Arg60Cys) NC_000009.12:22008775:G:A Identity +NM_001448.3:c.1412T>C NP_001439.2:p.Met471Thr NC_000023.11:133303221:A:G p.(Met471Thr) NC_000023.11:133303221:A:G p.(Met471Thr) NC_000023.11:133303221:A:G Identity +NM_001329090.2:c.1415C>T NP_001316019.1:p.Thr472Met NC_000001.11:16135040:G:A p.(Thr472Met) NC_000001.11:16135040:G:A p.(Thr472Met) NC_000001.11:16135040:G:A Identity +NM_001145853.1:c.1838G>A NP_001139325.1:p.Trp613Ter NC_000004.12:6301632:G:A p.(Trp613Ter) NC_000004.12:6301632:G:A p.(Trp613Ter) NC_000004.12:6301632:G:A Identity +NM_001193397.2:c.683T>G NP_001180326.1:p.Met228Arg NC_000009.12:129142445:T:G p.(Met228Arg) NC_000009.12:129142445:T:G p.(Met228Arg) NC_000009.12:129142445:T:G Identity +NM_001079872.2:c.2300T>C NP_001073341.1:p.Leu767Ser NC_000023.11:120532560:A:G p.(Leu767Ser) NC_000023.11:120532560:A:G p.(Leu767Ser) NC_000023.11:120532560:A:G Identity +NM_001130089.2:c.1451G>A NP_001123561.1:p.Cys484Tyr NC_000016.10:75630479:C:T p.(Cys484Tyr) NC_000016.10:75630479:C:T p.(Cys484Tyr) NC_000016.10:75630479:C:T Identity +NM_000721.4:c.2444G>A NP_000712.2:p.Ser815Asn NC_000001.11:181732529:G:A p.(Ser815Asn) NC_000001.11:181732529:G:A p.(Ser815Asn) NC_000001.11:181732529:G:A Identity +NM_001353765.2:c.1084G>T NP_001340694.1:p.Ala362Ser NC_000002.12:29193798:C:A p.(Ala362Ser) NC_000002.12:29193798:C:A p.(Ala362Ser) NC_000002.12:29193798:C:A Identity +NM_001134232.2:c.508C>T NP_001127704.1:p.Gln170Ter NC_000007.14:12229744:C:T p.(Gln170Ter) NC_000007.14:12229744:C:T p.(Gln170Ter) NC_000007.14:12229744:C:T Identity +NM_000814.6:c.26T>C NP_000805.1:p.Leu9Pro NC_000015.10:26772936:A:G p.(Leu9Pro) NC_000015.10:26772936:A:G p.(Leu9Pro) NC_000015.10:26772936:A:G Identity +NM_001319053.2:c.825del NP_001305982.1:p.Lys275fs NC_000006.12:29613452:C: p.(Lys275AsnfsTer3) NC_000006.12:29613452:C: p.(Lys275AsnfsTer3) NC_000006.12:29613452:C: Analogous +NM_000071.3:c.1096G>A NP_000062.1:p.Glu366Lys NC_000021.9:43060489:C:T p.(Glu366Lys) NC_000021.9:43060489:C:T p.(Glu366Lys) NC_000021.9:43060489:C:T Identity +NM_000104.4:c.317C>A NP_000095.2:p.Ala106Asp NC_000002.12:38075071:G:T p.(Ala106Asp) NC_000002.12:38075071:G:T p.(Ala106Asp) NC_000002.12:38075071:G:T Identity +NM_000157.4:c.1263C>A NP_000148.2:p.Asn421Lys NC_000001.11:155235805:G:T p.(Asn421Lys) NC_000001.11:155235805:G:T p.(Asn421Lys) NC_000001.11:155235805:G:T Identity +NM_015557.3:c.1411C>T NP_056372.1:p.Arg471Trp NC_000001.11:6146843:G:A p.(Arg471Trp) NC_000001.11:6146843:G:A p.(Arg471Trp) NC_000001.11:6146843:G:A Identity +NM_001378183.1:c.487G>A NP_001365112.1:p.Glu163Lys NC_000018.10:10871257:C:T p.(Glu163Lys) NC_000018.10:10871257:C:T p.(Glu163Lys) NC_000018.10:10871257:C:T Identity +NM_001257965.2:c.729T>G NP_001244894.1:p.Asn243Lys NC_000001.11:197347426:T:G p.(Asn243Lys) NC_000001.11:197347426:T:G p.(Asn243Lys) NC_000001.11:197347426:T:G Identity +NM_001165963.4:c.2344A>C NP_001159435.1:p.Thr782Pro NC_000002.12:166041301:T:G p.(Thr782Pro) NC_000002.12:166041301:T:G p.(Thr782Pro) NC_000002.12:166041301:T:G Identity +NM_024685.4:c.1555_1564del NP_078961.3:p.Thr519fs NC_000012.12:76346420:TTTCAACTGTTT:TT p.(Thr519ArgfsTer2) NC_000012.12:76346420:TTTCAACTGTTT:TT p.(Thr519ArgfsTer2) NC_000012.12:76346420:TTTCAACTGT: Analogous +NM_206933.4:c.9315del NP_996816.3:p.Val3106fs NC_000001.11:215838046:A: p.(Val3106TrpfsTer54) NC_000001.11:215838046:A: p.(Val3106TrpfsTer54) NC_000001.11:215838046:A: Analogous +NM_001363520.3:c.1244G>C NP_001350449.1:p.Arg415Pro NC_000004.12:127920741:C:G p.(Arg415Pro) NC_000004.12:127920741:C:G p.(Arg415Pro) NC_000004.12:127920741:C:G Identity +NM_000260.4:c.1929dup NP_000251.3:p.Pro644fs NC_000011.10:77172878:G:GG p.(Pro644AlafsTer67) NC_000011.10:77172878:G:GG p.(Pro644AlafsTer67) ERR:SPDI Analogous +NM_001256053.2:c.3523C>T NP_001242982.1:p.Gln1175Ter NC_000010.11:27034923:G:A p.(Gln1175Ter) NC_000010.11:27034923:G:A p.(Gln1175Ter) NC_000010.11:27034923:G:A Identity +NM_000506.5:c.689A>G NP_000497.1:p.His230Arg NC_000011.10:46725987:A:G p.(His230Arg) NC_000011.10:46725987:A:G p.(His230Arg) NC_000011.10:46725987:A:G Identity +NM_006766.5:c.4342G>A NP_006757.2:p.Glu1448Lys NC_000008.11:41933877:C:T p.(Glu1448Lys) NC_000008.11:41933877:C:T p.(Glu1448Lys) NC_000008.11:41933877:C:T Identity +NM_001079878.2:c.332C>A NP_001073347.1:p.Ser111Tyr NC_000002.12:98380290:C:A p.(Ser111Tyr) NC_000002.12:98380290:C:A p.(Ser111Tyr) NC_000002.12:98380290:C:A Identity +NM_001126131.2:c.2244G>T NP_001119603.1:p.Trp748Cys NC_000015.10:89323424:C:A p.(Trp748Cys) NC_000015.10:89323424:C:A p.(Trp748Cys) NC_000015.10:89323424:C:A Identity +NM_001145160.2:c.430C>T NP_001138632.1:p.Gln144Ter NC_000019.10:16086477:C:T p.(Gln144Ter) NC_000019.10:16086477:C:T p.(Gln144Ter) NC_000019.10:16086477:C:T Identity +NM_003922.4:c.9070G>A NP_003913.3:p.Gly3024Ser NC_000015.10:63661852:C:T p.(Gly3024Ser) NC_000015.10:63661852:C:T p.(Gly3024Ser) NC_000015.10:63661852:C:T Identity +NM_000080.4:c.1052C>G NP_000071.1:p.Pro351Arg NC_000017.11:4899364:G:C p.(Pro351Arg) NC_000017.11:4899364:G:C p.(Pro351Arg) NC_000017.11:4899364:G:C Identity +NM_001040610.3:c.2479C>A NP_001035700.1:p.Leu827Ile NC_000015.10:82151821:G:T p.(Leu827Ile) NC_000015.10:82151821:G:T p.(Leu827Ile) NC_000015.10:82151821:G:T Identity +NM_001349608.2:c.2704C>A NP_001336537.1:p.Leu902Ile NC_000001.11:7677612:C:A p.(Leu902Ile) NC_000001.11:7677612:C:A p.(Leu902Ile) NC_000001.11:7677612:C:A Identity +NM_001347721.2:c.473A>T NP_001334650.1:p.Lys158Ile NC_000021.9:37480809:A:T p.(Lys158Ile) NC_000021.9:37480809:A:T p.(Lys158Ile) NC_000021.9:37480809:A:T Identity +NM_001256324.2:c.1940C>T NP_001243253.1:p.Ser647Phe NC_000017.11:50578202:C:T p.(Ser647Phe) NC_000017.11:50578202:C:T p.(Ser647Phe) NC_000017.11:50578202:C:T Identity +NM_001127396.3:c.58C>T NP_001120868.1:p.Arg20Trp NC_000019.10:7638745:C:T p.(Arg20Trp) NC_000019.10:7638745:C:T p.(Arg20Trp) NC_000019.10:7638745:C:T Identity +NM_001256053.2:c.1756A>G NP_001242982.1:p.Lys586Glu NC_000010.11:27048858:T:C p.(Lys586Glu) NC_000010.11:27048858:T:C p.(Lys586Glu) NC_000010.11:27048858:T:C Identity +NM_001346813.1:c.2614C>T NP_001333742.1:p.Gln872Ter NC_000006.12:157148724:C:T ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_014712.3:c.194G>A NP_055527.1:p.Cys65Tyr NC_000016.10:30959133:G:A p.(Cys65Tyr) NC_000016.10:30959133:G:A p.(Cys65Tyr) NC_000016.10:30959133:G:A Identity +NM_001365684.2:c.4963A>G NP_001352613.2:p.Ile1655Val NC_000005.10:177280777:A:G p.(Ile1655Val) NC_000005.10:177280777:A:G p.(Ile1655Val) NC_000005.10:177280777:A:G Identity +NM_001321038.2:c.622C>T NP_001307967.1:p.Leu208Phe NC_000001.11:108898705:C:T p.(Leu208Phe) NC_000001.11:108898705:C:T p.(Leu208Phe) NC_000001.11:108898705:C:T Identity +NM_001135.4:c.274G>A NP_001126.3:p.Gly92Arg NC_000015.10:88838865:G:A p.(Gly92Arg) NC_000015.10:88838865:G:A p.(Gly92Arg) NC_000015.10:88838865:G:A Identity +NM_001349608.2:c.836C>A NP_001336537.1:p.Ser279Ter NC_000001.11:7663472:C:A p.(Ser279Ter) NC_000001.11:7663472:C:A p.(Ser279Ter) NC_000001.11:7663472:C:A Identity +NM_001330615.4:c.315G>C NP_001317544.2:p.Met105Ile NC_000003.12:12381415:G:C p.(Met105Ile) NC_000003.12:12381415:G:C p.(Met105Ile) NC_000003.12:12381415:G:C Identity +NM_001271838.2:c.344G>A NP_001258767.1:p.Arg115His NC_000003.12:158203094:G:A p.(Arg115His) NC_000003.12:158203094:G:A p.(Arg115His) NC_000003.12:158203094:G:A Identity +NM_013254.4:c.1193C>T NP_037386.1:p.Ser398Phe NC_000012.12:64485457:C:T p.(Ser398Phe) NC_000012.12:64485457:C:T p.(Ser398Phe) NC_000012.12:64485457:C:T Identity +NM_001318785.2:c.991G>A NP_001305714.1:p.Asp331Asn NC_000006.12:87516875:C:T p.(Asp331Asn) NC_000006.12:87516875:C:T p.(Asp331Asn) NC_000006.12:87516875:C:T Identity +NM_001040113.2:c.2632G>T NP_001035202.1:p.Ala878Ser NC_000016.10:15741800:C:A p.(Ala878Ser) NC_000016.10:15741800:C:A p.(Ala878Ser) NC_000016.10:15741800:C:A Identity +NM_001178102.2:c.239A>G NP_001171573.1:p.Asn80Ser NC_000005.10:122074118:T:C p.(Asn80Ser) NC_000005.10:122074118:T:C p.(Asn80Ser) NC_000005.10:122074118:T:C Identity +NM_001011658.4:c.225del NP_001011658.1:p.Phe75fs NC_000023.11:13716546:AAA:AA p.(Phe75LeufsTer7) NC_000023.11:13716546:AAA:AA p.(Phe75LeufsTer7) NC_000023.11:13716546:A: Analogous +NM_001384125.1:c.5056A>G NP_001371054.1:p.Ile1686Val NC_000004.12:122246169:A:G p.(Ile1686Val) NC_000004.12:122246169:A:G p.(Ile1686Val) NC_000004.12:122246169:A:G Identity +NM_005862.3:c.17T>G NP_005853.2:p.Leu6Ter NC_000003.12:136630881:A:C p.(Leu6Ter) NC_000003.12:136630881:A:C p.(Leu6Ter) NC_000003.12:136630881:A:C Identity +NM_002943.4:c.580C>T NP_002934.1:p.Gln194Ter NC_000015.10:60511540:G:A p.(Gln194Ter) NC_000015.10:60511540:G:A p.(Gln194Ter) NC_000015.10:60511540:G:A Identity +NM_001363734.1:c.367A>T NP_001350663.1:p.Asn123Tyr NC_000020.11:32428347:A:T p.(Asn123Tyr) NC_000020.11:32428347:A:T p.(Asn123Tyr) NC_000020.11:32428347:A:T Identity +NM_005445.4:c.1450G>C NP_005436.1:p.Ala484Pro NC_000010.11:110589931:G:C p.(Ala484Pro) NC_000010.11:110589931:G:C p.(Ala484Pro) NC_000010.11:110589931:G:C Identity +NM_001271.4:c.2211C>A NP_001262.3:p.Tyr737Ter NC_000015.10:92971785:C:A p.(Tyr737Ter) NC_000015.10:92971785:C:A p.(Tyr737Ter) NC_000015.10:92971785:C:A Identity +NM_001276289.2:c.569G>A NP_001263218.1:p.Trp190Ter NC_000017.11:68525772:G:A p.(Trp190Ter) NC_000017.11:68525772:G:A p.(Trp190Ter) NC_000017.11:68525772:G:A Identity +NM_001148.6:c.7222G>A NP_001139.3:p.Gly2408Arg NC_000004.12:113355839:G:A p.(Gly2408Arg) NC_000004.12:113355839:G:A p.(Gly2408Arg) NC_000004.12:113355839:G:A Identity +NM_001194937.2:c.1579dup NP_001181866.1:p.Tyr527fs NC_000001.11:151423468:AA:AAA p.(Tyr527LeufsTer19) NC_000001.11:151423468:AA:AAA p.(Tyr527LeufsTer19) ERR:SPDI Analogous +NM_030761.5:c.164A>C NP_110388.2:p.Gln55Pro NC_000001.11:22129764:T:G p.(Gln55Pro) NC_000001.11:22129764:T:G p.(Gln55Pro) NC_000001.11:22129764:T:G Identity +NM_205850.3:c.1455T>A NP_995322.1:p.Tyr485Ter NC_000015.10:48142302:T:A p.(Tyr485Ter) NC_000015.10:48142302:T:A p.(Tyr485Ter) NC_000015.10:48142302:T:A Identity +NM_000530.8:c.73_74delinsA NP_000521.2:p.Ser25fs NC_000001.11:161307417:GA:T p.(Ser25ThrfsTer22) NC_000001.11:161307417:GA:T p.(Ser25ThrfsTer22) NC_000001.11:161307417:GA:T Analogous +NM_001005242.3:c.2156del NP_001005242.2:p.Gln719fs NC_000012.12:32802413:T: p.(Gln719ArgfsTer37) NC_000012.12:32802413:T: p.(Gln719ArgfsTer37) NC_000012.12:32802413:T: Analogous +NM_000138.5:c.1304T>C NP_000129.3:p.Leu435Pro NC_000015.10:48516205:A:G p.(Leu435Pro) NC_000015.10:48516205:A:G p.(Leu435Pro) NC_000015.10:48516205:A:G Identity +NM_000138.5:c.3230C>G NP_000129.3:p.Ser1077Cys NC_000015.10:48488219:G:C p.(Ser1077Cys) NC_000015.10:48488219:G:C p.(Ser1077Cys) NC_000015.10:48488219:G:C Identity +NM_001079846.1:c.1108C>G NP_001073315.1:p.Arg370Gly NC_000016.10:3793493:G:C p.(Arg370Gly) NC_000016.10:3793493:G:C p.(Arg370Gly) NC_000016.10:3793493:G:C Identity +NM_000090.4:c.3094G>A NP_000081.2:p.Gly1032Ser NC_000002.12:189006344:G:A p.(Gly1032Ser) NC_000002.12:189006344:G:A p.(Gly1032Ser) NC_000002.12:189006344:G:A Identity +NM_000089.4:c.2297G>A NP_000080.2:p.Gly766Asp NC_000007.14:94421009:G:A p.(Gly766Asp) NC_000007.14:94421009:G:A p.(Gly766Asp) NC_000007.14:94421009:G:A Identity +NM_004459.7:c.5407A>G NP_004450.3:p.Thr1803Ala NC_000017.11:67912912:A:G p.(Thr1803Ala) NC_000017.11:67912912:A:G p.(Thr1803Ala) NC_000017.11:67912912:A:G Identity +NM_001363577.2:c.395C>T NP_001350506.1:p.Pro132Leu NC_000004.12:26420689:C:T p.(Pro132Leu) NC_000004.12:26420689:C:T p.(Pro132Leu) NC_000004.12:26420689:C:T Identity +NM_001142805.2:c.1506del NP_001136277.1:p.Tyr503fs NC_000023.11:153694570:GGG:GG p.(Tyr503ThrfsTer7) NC_000023.11:153694570:GGG:GG p.(Tyr503ThrfsTer7) NC_000023.11:153694572:G: Analogous +NM_001320580.2:c.1807G>C NP_001307509.1:p.Val603Leu NC_000003.12:49033207:C:G p.(Val603Leu) NC_000003.12:49033207:C:G p.(Val603Leu) NC_000003.12:49033207:C:G Identity +NM_001197181.2:c.454G>A NP_001184110.1:p.Asp152Asn NC_000016.10:89935120:G:A p.(Asp152Asn) NC_000016.10:89935120:G:A p.(Asp152Asn) NC_000016.10:89935120:G:A Identity +NM_005732.4:c.3890C>T NP_005723.2:p.Ser1297Leu NC_000005.10:132642314:C:T p.(Ser1297Leu) NC_000005.10:132642314:C:T p.(Ser1297Leu) NC_000005.10:132642314:C:T Identity +NM_032119.4:c.9261A>T NP_115495.3:p.Arg3087Ser NC_000005.10:90716542:A:T p.(Arg3087Ser) NC_000005.10:90716542:A:T p.(Arg3087Ser) NC_000005.10:90716542:A:T Identity +NM_001172766.3:c.868C>T NP_001166237.1:p.Leu290Phe NC_000007.14:114642504:C:T p.(Leu290Phe) NC_000007.14:114642504:C:T p.(Leu290Phe) NC_000007.14:114642504:C:T Identity +NM_021035.3:c.872C>T NP_066363.1:p.Thr291Met NC_000020.11:49270939:G:A p.(Thr291Met) NC_000020.11:49270939:G:A p.(Thr291Met) NC_000020.11:49270939:G:A Identity +NM_001281956.2:c.5984G>A NP_001268885.1:p.Arg1995Gln NC_000001.11:33616937:C:T p.(Arg1995Gln) NC_000001.11:33616937:C:T p.(Arg1995Gln) NC_000001.11:33616937:C:T Identity +NM_001024847.3:c.1468G>T NP_001020018.1:p.Gly490Ter NC_000003.12:30674242:G:T p.(Gly490Ter) NC_000003.12:30674242:G:T p.(Gly490Ter) NC_000003.12:30674242:G:T Identity +NM_001393769.1:c.1682T>G NP_001380698.1:p.Leu561Arg NC_000003.12:151188408:T:G p.(Leu561Arg) NC_000003.12:151188408:T:G p.(Leu561Arg) NC_000003.12:151188408:T:G Identity +NM_001366110.1:c.225C>G NP_001353039.1:p.Ser75Arg NC_000007.14:127615014:G:C p.(Ser75Arg) NC_000007.14:127615014:G:C p.(Ser75Arg) NC_000007.14:127615014:G:C Identity +NM_001077186.2:c.3485C>A NP_001070654.1:p.Ala1162Glu NC_000019.10:50276106:C:A p.(Ala1162Glu) NC_000019.10:50276106:C:A p.(Ala1162Glu) NC_000019.10:50276106:C:A Identity +NM_022095.4:c.3984G>C NP_071378.1:p.Gln1328His NC_000020.11:45948997:C:G p.(Gln1328His) NC_000020.11:45948997:C:G p.(Gln1328His) NC_000020.11:45948997:C:G Identity +NM_001267040.1:c.2254T>C NP_001253969.1:p.Ser752Pro NC_000006.12:15508377:T:C p.(Ser752Pro) NC_000006.12:15508377:T:C p.(Ser752Pro) NC_000006.12:15508377:T:C Identity +NM_001320759.2:c.220C>T NP_001307688.1:p.Pro74Ser NC_000017.11:18302717:G:A p.(Pro74Ser) NC_000017.11:18302717:G:A p.(Pro74Ser) NC_000017.11:18302717:G:A Identity +NM_001365276.2:c.8129T>C NP_001352205.1:p.Val2710Ala NC_000006.12:32056599:A:G p.(Val2710Ala) NC_000006.12:32056599:A:G p.(Val2710Ala) NC_000006.12:32056599:A:G Identity +NM_001008844.3:c.2753G>T NP_001008844.1:p.Gly918Val NC_000006.12:7576415:G:T p.(Gly918Val) NC_000006.12:7576415:G:T p.(Gly918Val) NC_000006.12:7576415:G:T Identity +NM_001407665.1:c.3130_3131insAA NP_001394594.1:p.Arg1044fs NC_000017.11:43092277:T:TTT p.(Arg1044LysfsTer3) NC_000017.11:43092276:C:TT p.(Arg1044LysfsTer3) NC_000017.11:43092277:CT:TT Analogous +NM_001411025.1:c.1102G>A NP_001397954.1:p.Glu368Lys NC_000011.10:66709011:C:T p.(Glu368Lys) NC_000011.10:66709011:C:T p.(Glu368Lys) NC_000011.10:66709011:C:T Identity +NM_002240.5:c.491G>T NP_002231.1:p.Cys164Phe NC_000021.9:37714665:C:A p.(Cys164Phe) NC_000021.9:37714665:C:A p.(Cys164Phe) NC_000021.9:37714665:C:A Identity +NM_001040142.2:c.4667G>C NP_001035232.1:p.Ser1556Thr NC_000002.12:165386860:G:C p.(Ser1556Thr) NC_000002.12:165386860:G:C p.(Ser1556Thr) NC_000002.12:165386860:G:C Identity +NM_001378418.1:c.1766T>C NP_001365347.1:p.Met589Thr NC_000022.11:42213539:A:G p.(Met589Thr) NC_000022.11:42213539:A:G p.(Met589Thr) NC_000022.11:42213539:A:G Identity +NM_001849.4:c.1275_1282del NP_001840.3:p.Arg426fs NC_000021.9:46119791:GCAGGGGAG:G p.(Arg426ProfsTer22) NC_000021.9:46119791:GCAGGGGAG:G p.(Arg426ProfsTer22) NC_000021.9:46119792:CAGGGGAG: Analogous +NM_001256324.2:c.1613C>G NP_001243253.1:p.Ser538Trp NC_000017.11:50576014:C:G p.(Ser538Trp) NC_000017.11:50576014:C:G p.(Ser538Trp) NC_000017.11:50576014:C:G Identity +NM_001853.4:c.1685del NP_001844.3:p.Pro562fs NC_000020.11:62837158:CCCCCC:CCCCC p.(Pro562LeufsTer111) NC_000020.11:62837158:CCCCCC:CCCCC p.(Pro562LeufsTer111) NC_000020.11:62837163:C: Analogous +NM_001372044.2:c.5306T>G NP_001358973.1:p.Ile1769Arg NC_000022.11:50731196:T:G p.(Phe1769Cys) NC_000022.11:50731235:T:G p.(Phe1769Cys) NC_000022.11:50731235:T:G Different +NM_001256468.2:c.2188T>G NP_001243397.1:p.Tyr730Asp NC_000010.11:75020688:T:G p.(Tyr730Asp) NC_000010.11:75020688:T:G p.(Tyr730Asp) NC_000010.11:75020688:T:G Identity +NM_001278192.2:c.263A>T NP_001265121.1:p.Lys88Met NC_000011.10:62634330:T:A p.(Lys88Met) NC_000011.10:62634330:T:A p.(Lys88Met) NC_000011.10:62634330:T:A Identity +NM_005045.4:c.4503G>T NP_005036.2:p.Arg1501Ser NC_000007.14:103574099:C:A p.(Arg1501Ser) NC_000007.14:103574099:C:A p.(Arg1501Ser) NC_000007.14:103574099:C:A Identity +NM_016327.3:c.47del NP_057411.1:p.His16fs NC_000022.11:24495449:A: p.(His16ProfsTer10) NC_000022.11:24495449:A: p.(His16ProfsTer10) NC_000022.11:24495449:A: Analogous +NM_001204760.2:c.985C>T NP_001191689.1:p.Arg329Ter NC_000004.12:166014502:C:T p.(Arg329Ter) NC_000004.12:166014502:C:T p.(Arg329Ter) NC_000004.12:166014502:C:T Identity +NM_001270507.2:c.1274C>G NP_001257436.1:p.Pro425Arg NC_000006.12:137878718:C:G p.(Pro425Arg) NC_000006.12:137878718:C:G p.(Pro425Arg) NC_000006.12:137878718:C:G Identity +NM_001001323.2:c.2959G>T NP_001001323.1:p.Glu987Ter NC_000012.12:89603143:C:A p.(Glu987Ter) NC_000012.12:89603143:C:A p.(Glu987Ter) NC_000012.12:89603143:C:A Identity +NM_001304815.2:c.3428T>C NP_001291744.1:p.Leu1143Pro NC_000019.10:42287662:T:C p.(Leu1143Pro) NC_000019.10:42287662:T:C p.(Leu1143Pro) NC_000019.10:42287662:T:C Identity +NM_001177428.1:c.688C>T NP_001170899.1:p.Pro230Ser NC_000012.12:109803014:G:A p.(Pro230Ser) NC_000012.12:109803014:G:A p.(Pro230Ser) NC_000012.12:109803014:G:A Identity +NM_000534.5:c.1258del NP_000525.1:p.His420fs NC_000002.12:189854529:C: p.(His420IlefsTer22) NC_000002.12:189854529:C: p.(His420IlefsTer22) NC_000002.12:189854529:C: Analogous +NM_000109.4:c.8776G>C NP_000100.3:p.Glu2926Gln NC_000023.11:31478242:C:G p.(Glu2926Gln) NC_000023.11:31478242:C:G p.(Glu2926Gln) NC_000023.11:31478242:C:G Identity +NM_000419.5:c.959T>C NP_000410.2:p.Phe320Ser NC_000017.11:44383932:A:G p.(Phe320Ser) NC_000017.11:44383932:A:G p.(Phe320Ser) NC_000017.11:44383932:A:G Identity +NM_000162.5:c.1303_1306dup NP_000153.1:p.Ile436fs NC_000007.14:44145227:TCTC:TCTCTCTC p.(Ile436ArgfsTer24) NC_000007.14:44145227:TCTC:TCTCTCTC p.(Ile436ArgfsTer24) ERR:SPDI Analogous +NM_001142301.1:c.1528A>G NP_001135773.1:p.Lys510Glu NC_000008.11:93795504:A:G p.(Lys510Glu) NC_000008.11:93795504:A:G p.(Lys510Glu) NC_000008.11:93795504:A:G Identity +NM_001077186.2:c.5774G>A NP_001070654.1:p.Arg1925His NC_000019.10:50309089:G:A p.(Arg1925His) NC_000019.10:50309089:G:A p.(Arg1925His) NC_000019.10:50309089:G:A Identity +NM_000162.5:c.824G>C NP_000153.1:p.Arg275Pro NC_000007.14:44147688:C:G p.(Arg275Pro) NC_000007.14:44147688:C:G p.(Arg275Pro) NC_000007.14:44147688:C:G Identity +NM_002633.3:c.87_94del NP_002624.2:p.Phe29fs NC_000001.11:63593574:CCAGAGCA: p.(Phe29LeufsTer73) NC_000001.11:63593574:CCAGAGCA: p.(Phe29LeufsTer73) NC_000001.11:63593574:CCAGAGCA: Analogous +NM_003276.2:c.1358G>C NP_003267.1:p.Gly453Ala NC_000012.12:98533614:G:C p.(Gly453Ala) NC_000012.12:98533614:G:C p.(Gly453Ala) NC_000012.12:98533614:G:C Identity +NM_001256850.1:c.53819A>C NP_001243779.1:p.Asp17940Ala NC_000002.12:178593465:T:G p.(Asp17940Ala) NC_000002.12:178593465:T:G p.(Asp17940Ala) NC_000002.12:178593465:T:G Identity +NM_007292.6:c.295_308del NP_009223.2:p.Pro99fs NC_000017.11:75973746:TTGAGGCCCACAGGTT:TT p.(Pro99LeufsTer54) NC_000017.11:75973746:TTGAGGCCCACAGGTT:TT p.(Pro99LeufsTer54) NC_000017.11:75973746:TTGAGGCCCACAGG: Analogous +NM_001164691.2:c.1225C>T NP_001158163.1:p.Arg409Cys NC_000012.12:53431260:C:T p.(Arg409Cys) NC_000012.12:53431260:C:T p.(Arg409Cys) NC_000012.12:53431260:C:T Identity +NM_000832.7:c.2054A>G NP_000823.4:p.Lys685Arg NC_000009.12:137162885:A:G p.(Lys685Arg) NC_000009.12:137162885:A:G p.(Lys685Arg) NC_000009.12:137162885:A:G Identity +NM_001849.4:c.2857G>A NP_001840.3:p.Gly953Ser NC_000021.9:46132348:G:A p.(Gly953Ser) NC_000021.9:46132348:G:A p.(Gly953Ser) NC_000021.9:46132348:G:A Identity +NM_017617.5:c.5446G>A NP_060087.3:p.Glu1816Lys NC_000009.12:136502026:C:T p.(Glu1816Lys) NC_000009.12:136502026:C:T p.(Glu1816Lys) NC_000009.12:136502026:C:T Identity +NM_001243571.2:c.1394C>T NP_001230500.1:p.Thr465Ile NC_000011.10:95836307:G:A p.(Thr465Ile) NC_000011.10:95836307:G:A p.(Thr465Ile) NC_000011.10:95836307:G:A Identity +NM_001256850.1:c.19231A>G NP_001243779.1:p.Asn6411Asp NC_000002.12:178727182:T:C p.(Asn6411Asp) NC_000002.12:178727182:T:C p.(Asn6411Asp) NC_000002.12:178727182:T:C Identity +NM_198525.3:c.685G>C NP_940927.2:p.Gly229Arg NC_000015.10:89649211:C:G p.(Gly229Arg) NC_000015.10:89649211:C:G p.(Gly229Arg) NC_000015.10:89649211:C:G Identity +NM_001165963.4:c.2257T>C NP_001159435.1:p.Tyr753His NC_000002.12:166041388:A:G p.(Tyr753His) NC_000002.12:166041388:A:G p.(Tyr753His) NC_000002.12:166041388:A:G Identity +NM_000833.5:c.203A>G NP_000824.1:p.Asn68Ser NC_000016.10:10180208:T:C p.(Asn68Ser) NC_000016.10:10180208:T:C p.(Asn68Ser) NC_000016.10:10180208:T:C Identity +NM_001287491.2:c.5335G>C NP_001274420.1:p.Val1779Leu NC_000002.12:74102122:G:C p.(Val1779Leu) NC_000002.12:74102122:G:C p.(Val1779Leu) NC_000002.12:74102122:G:C Identity +NM_001037537.2:c.368C>G NP_001032626.1:p.Pro123Arg NC_000010.11:13288369:G:C p.(Pro123Arg) NC_000010.11:13288369:G:C p.(Pro123Arg) NC_000010.11:13288369:G:C Identity +NM_001365116.2:c.3482G>A NP_001352045.1:p.Arg1161Gln NC_000003.12:46999354:G:A p.(Arg1161Gln) NC_000003.12:46999354:G:A p.(Arg1161Gln) NC_000003.12:46999354:G:A Identity +NM_001080424.2:c.4609A>G NP_001073893.1:p.Lys1537Glu NC_000017.11:7852634:A:G p.(Lys1537Glu) NC_000017.11:7852634:A:G p.(Lys1537Glu) NC_000017.11:7852634:A:G Identity +NM_000397.4:c.1498G>T NP_000388.2:p.Asp500Tyr NC_000023.11:37809602:G:T p.(Asp500Tyr) NC_000023.11:37809602:G:T p.(Asp500Tyr) NC_000023.11:37809602:G:T Identity +NM_001282902.3:c.135G>C NP_001269831.1:p.Gln45His NC_000008.11:115619935:C:G p.(Gln45His) NC_000008.11:115619935:C:G p.(Gln45His) NC_000008.11:115619935:C:G Identity +NM_001130105.1:c.979G>A NP_001123577.1:p.Val327Met NC_000005.10:75425360:C:T p.(Val327Met) NC_000005.10:75425360:C:T p.(Val327Met) NC_000005.10:75425360:C:T Identity +NM_001353229.2:c.1058G>T NP_001340158.1:p.Cys353Phe NC_000017.11:17219076:C:A p.(Cys353Phe) NC_000017.11:17219076:C:A p.(Cys353Phe) NC_000017.11:17219076:C:A Identity +NM_001130066.2:c.2224C>T NP_001123538.1:p.Arg742Trp NC_000006.12:33441688:C:T p.(Arg742Trp) NC_000006.12:33441688:C:T p.(Arg742Trp) NC_000006.12:33441688:C:T Identity +NM_001280541.2:c.1813G>A NP_001267470.1:p.Val605Met NC_000003.12:129483667:G:A p.(Val605Met) NC_000003.12:129483667:G:A p.(Val605Met) NC_000003.12:129483667:G:A Identity +NM_001282237.2:c.1214C>T NP_001269166.1:p.Thr405Met NC_000014.9:99175618:G:A p.(Thr405Met) NC_000014.9:99175618:G:A p.(Thr405Met) NC_000014.9:99175618:G:A Identity +NM_000335.5:c.5251T>G NP_000326.2:p.Phe1751Val NC_000003.12:38551117:A:C p.(Phe1751Val) NC_000003.12:38551117:A:C p.(Phe1751Val) NC_000003.12:38551117:A:C Identity +NM_201269.3:c.3675G>C NP_958357.1:p.Leu1225Phe NC_000001.11:90937497:C:G p.(Leu1225Phe) NC_000001.11:90937497:C:G p.(Leu1225Phe) NC_000001.11:90937497:C:G Identity +NM_001069.3:c.344C>T NP_001060.1:p.Ser115Leu NC_000006.12:3154856:G:A p.(Ser115Leu) NC_000006.12:3154856:G:A p.(Ser115Leu) NC_000006.12:3154856:G:A Identity +NM_001301035.2:c.610C>T NP_001287964.1:p.Pro204Ser NC_000019.10:42249276:G:A p.(Pro204Ser) NC_000019.10:42249276:G:A p.(Pro204Ser) NC_000019.10:42249276:G:A Identity +NM_001083885.3:c.1202C>G NP_001077354.2:p.Ser401Cys NC_000009.12:114403962:G:C p.(Ser401Cys) NC_000009.12:114403962:G:C p.(Ser401Cys) NC_000009.12:114403962:G:C Identity +NM_015557.3:c.2197G>A NP_056372.1:p.Val733Met NC_000001.11:6142451:C:T p.(Val733Met) NC_000001.11:6142451:C:T p.(Val733Met) NC_000001.11:6142451:C:T Identity +NM_181672.3:c.85C>T NP_858058.1:p.His29Tyr NC_000023.11:71536224:C:T p.(His29Tyr) NC_000023.11:71536224:C:T p.(His29Tyr) NC_000023.11:71536224:C:T Identity +NM_001004426.3:c.967G>A NP_001004426.1:p.Val323Met NC_000022.11:38132940:C:T p.(Val323Met) NC_000022.11:38132940:C:T p.(Val323Met) NC_000022.11:38132940:C:T Identity +NM_001005336.3:c.679dup NP_001005336.1:p.Leu227fs NC_000009.12:128220072:CCCCC:CCCCCC p.(Leu227ProfsTer17) NC_000009.12:128220072:CCCCC:CCCCCC p.(Leu227ProfsTer17) ERR:SPDI Analogous +NM_001130916.3:c.460G>C NP_001124388.1:p.Val154Leu NC_000009.12:99137974:G:C p.(Val154Leu) NC_000009.12:99137974:G:C p.(Val154Leu) NC_000009.12:99137974:G:C Identity +NM_001206389.2:c.6del NP_001193318.1:p.Glu3fs NC_000010.11:101774750:T: p.(Glu3ArgfsTer33) NC_000010.11:101774750:T: p.(Glu3ArgfsTer33) NC_000010.11:101774750:T: Analogous +NM_001127392.3:c.1067A>G NP_001120864.1:p.His356Arg NC_000011.10:61771903:A:G p.(His356Arg) NC_000011.10:61771903:A:G p.(His356Arg) NC_000011.10:61771903:A:G Identity +NM_001330437.2:c.449C>G NP_001317366.1:p.Ser150Cys NC_000012.12:112453310:C:G p.(Ser150Cys) NC_000012.12:112453310:C:G p.(Ser150Cys) NC_000012.12:112453310:C:G Identity +NM_000400.4:c.799C>T NP_000391.1:p.Gln267Ter NC_000019.10:45364250:G:A p.(Gln267Ter) NC_000019.10:45364250:G:A p.(Gln267Ter) NC_000019.10:45364250:G:A Identity +NM_001346897.2:c.2152G>A NP_001333826.1:p.Ala718Thr NC_000007.14:55181295:G:A p.(Ala718Thr) NC_000007.14:55181295:G:A p.(Ala718Thr) NC_000007.14:55181295:G:A Identity +NM_000368.5:c.556del NP_000359.1:p.Ala186fs NC_000009.12:132921925:C: p.(Ala186HisfsTer24) NC_000009.12:132921925:C: p.(Ala186HisfsTer24) NC_000009.12:132921925:C: Analogous +NM_000604.2:c.2090G>T NP_000595.1:p.Gly697Val NC_000008.11:38414247:C:A ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_178857.6:c.1022G>A NP_849188.4:p.Arg341Gln NC_000008.11:10613075:C:T p.(Arg341Gln) NC_000008.11:10613075:C:T p.(Arg341Gln) NC_000008.11:10613075:C:T Identity +NM_001099952.4:c.692A>T NP_001093422.2:p.Asp231Val NC_000003.12:4645453:A:T p.(Asp231Val) NC_000003.12:4645453:A:T p.(Asp231Val) NC_000003.12:4645453:A:T Identity +NM_001286349.2:c.1424T>G NP_001273278.1:p.Phe475Cys NC_000001.11:158094316:T:G p.(Phe475Cys) NC_000001.11:158094316:T:G p.(Phe475Cys) NC_000001.11:158094316:T:G Identity +NM_003901.4:c.1014T>G NP_003892.2:p.Asp338Glu NC_000010.11:70871940:T:G p.(Asp338Glu) NC_000010.11:70871940:T:G p.(Asp338Glu) NC_000010.11:70871940:T:G Identity +NM_153252.5:c.94dup NP_694984.5:p.Leu32fs NC_000023.11:80809038:G:GG p.(Leu32ProfsTer43) NC_000023.11:80809038:G:GG p.(Leu32ProfsTer43) ERR:SPDI Analogous +NM_001173479.2:c.881T>G NP_001166950.1:p.Met294Arg NC_000023.11:63665901:A:C p.(Met294Arg) NC_000023.11:63665901:A:C p.(Met294Arg) NC_000023.11:63665901:A:C Identity +NM_080605.4:c.598G>A NP_542172.2:p.Glu200Lys NC_000001.11:1232875:G:A p.(Glu200Lys) NC_000001.11:1232875:G:A p.(Glu200Lys) NC_000001.11:1232875:G:A Identity +NM_017780.4:c.4940_4944delinsA NP_060250.2:p.Leu1647fs NC_000008.11:60844952:TGGTG:A p.(Val1648ThrfsTer19) NC_000008.11:60844952:TGGTGT:TA p.(Leu1647HisfsTer20) NC_000008.11:60844952:TGGTG:A Analogous +NM_014516.4:c.913T>A NP_055331.1:p.Ser305Thr NC_000019.10:54148165:T:A p.(Ser305Thr) NC_000019.10:54148165:T:A p.(Ser305Thr) NC_000019.10:54148165:T:A Identity +NM_001319960.2:c.295G>A NP_001306889.1:p.Ala99Thr NC_000001.11:184737620:C:T p.(Ala99Thr) NC_000001.11:184737620:C:T p.(Ala99Thr) NC_000001.11:184737620:C:T Identity +NM_017780.4:c.4928G>A NP_060250.2:p.Cys1643Tyr NC_000008.11:60844940:G:A p.(Cys1643Tyr) NC_000008.11:60844940:G:A p.(Cys1643Tyr) NC_000008.11:60844940:G:A Identity +NM_032564.5:c.245T>C NP_115953.2:p.Val82Ala NC_000011.10:75784740:T:C p.(Val82Ala) NC_000011.10:75784740:T:C p.(Val82Ala) NC_000011.10:75784740:T:C Identity +NM_000128.4:c.691A>C NP_000119.1:p.Thr231Pro NC_000004.12:186276325:A:C p.(Thr231Pro) NC_000004.12:186276325:A:C p.(Thr231Pro) NC_000004.12:186276325:A:C Identity +NM_001011554.3:c.1596G>A NP_001011554.1:p.Trp532Ter NC_000020.11:46560093:C:T p.(Trp532Ter) NC_000020.11:46560093:C:T p.(Trp532Ter) NC_000020.11:46560093:C:T Identity +NM_001330069.2:c.1138A>G NP_001316998.1:p.Met380Val NC_000014.9:29636365:T:C p.(Met380Val) NC_000014.9:29636365:T:C p.(Met380Val) NC_000014.9:29636365:T:C Identity +NM_001407471.1:c.5992dup NP_001394400.1:p.Thr1998fs NC_000005.10:112842735:AAA:AAAA p.(Thr1998AsnfsTer9) NC_000005.10:112842735:AAA:AAAA p.(Thr1998AsnfsTer9) ERR:SPDI Analogous +NM_001317184.2:c.970G>T NP_001304113.1:p.Gly324Ter NC_000016.10:68811820:G:T p.(Gly324Ter) NC_000016.10:68811820:G:T p.(Gly324Ter) NC_000016.10:68811820:G:T Identity +NM_004329.3:c.441del NP_004320.2:p.Phe147fs NC_000010.11:86900031:TTTTTT:TTTTT p.(Phe147LeufsTer18) NC_000010.11:86900031:TTTTTT:TTTTT p.(Phe147LeufsTer18) NC_000010.11:86900036:T: Analogous +NM_032043.3:c.2754dup NP_114432.2:p.Ser919fs NC_000017.11:61685986:GG:GGG p.(Ser919LeufsTer20) NC_000017.11:61685986:GG:GGG p.(Ser919LeufsTer20) ERR:SPDI Analogous +NM_000038.6:c.3349del NP_000029.2:p.Ser1117fs NC_000005.10:112838941:TT:T p.(Ser1117LeufsTer9) NC_000005.10:112838941:TT:T p.(Ser1117LeufsTer9) NC_000005.10:112838942:T: Analogous +NM_001363813.1:c.1793G>A NP_001350742.1:p.Trp598Ter NC_000017.11:65536472:C:T p.(Trp598Ter) NC_000017.11:65536472:C:T p.(Trp598Ter) NC_000017.11:65536472:C:T Identity +NM_004360.5:c.1222dup NP_004351.1:p.Ala408fs NC_000016.10:68813396:G:GG p.(Ala408GlyfsTer11) NC_000016.10:68813396:G:GG p.(Ala408GlyfsTer11) ERR:SPDI Analogous +NM_001317184.2:c.1309del NP_001304113.1:p.Asp437fs NC_000016.10:68815684:GG:G p.(Asp437ThrfsTer24) NC_000016.10:68815684:GG:G p.(Asp437ThrfsTer24) NC_000016.10:68815685:G: Analogous +NM_000038.6:c.258del NP_000029.2:p.Lys86fs NC_000005.10:112767222:AAAA:AAA p.(Lys86AsnfsTer39) NC_000005.10:112767222:AAAA:AAA p.(Lys86AsnfsTer39) NC_000005.10:112767225:A: Analogous +NM_000038.6:c.2970del NP_000029.2:p.Asp990fs NC_000005.10:112838563:T: p.(Asp990GlufsTer15) NC_000005.10:112838563:T: p.(Asp990GlufsTer15) NC_000005.10:112838563:T: Analogous +NM_000038.6:c.4654delinsAA NP_000029.2:p.Glu1552fs NC_000005.10:112840247:G:AA p.(Glu1552LysfsTer7) NC_000005.10:112840247:G:AA p.(Glu1552LysfsTer7) NC_000005.10:112840247:G:AA Analogous +NM_001317184.2:c.2168_2169del NP_001304113.1:p.Arg723fs NC_000016.10:68829708:GT: p.(Arg723GlnfsTer22) NC_000016.10:68829708:GT: p.(Arg723GlnfsTer22) NC_000016.10:68829708:GT: Analogous +NM_001410772.1:c.1199dup NP_001397701.1:p.Tyr400Ter NC_000003.12:52403891:T:TT p.(Tyr400Ter) NC_000003.12:52403891:T:TT p.(Tyr400Ter) ERR:SPDI Identity +NM_000038.6:c.477_487delinsT NP_000029.2:p.Ala160fs NC_000005.10:112775682:CGCTCAACTTC:T p.(Ala160ArgfsTer7) NC_000005.10:112775682:CGCTCAACTTC:T p.(Ala160ArgfsTer7) NC_000005.10:112775682:CGCTCAACTTC:T Analogous +NM_000038.6:c.3863del NP_000029.2:p.Gly1288fs NC_000005.10:112839455:GG:G p.(Gly1288AspfsTer17) NC_000005.10:112839455:GG:G p.(Gly1288AspfsTer17) NC_000005.10:112839456:G: Analogous +NM_000038.6:c.4182_4183del NP_000029.2:p.Asp1394fs NC_000005.10:112839774:ATA:A p.(Asp1394GlufsTer3) NC_000005.10:112839774:ATA:A p.(Asp1394GlufsTer3) NC_000005.10:112839775:TA: Analogous +NM_032043.3:c.1582_1584delinsG NP_114432.2:p.Lys528fs NC_000017.11:61784313:TTT:C p.(Lys528GlyfsTer7) NC_000017.11:61784313:TTT:C p.(Lys528GlyfsTer7) NC_000017.11:61784313:TTT:C Analogous +NM_000465.4:c.974_986del NP_000456.2:p.His325fs NC_000002.12:214780887:GAAAGTCTATTGTGA:GA p.(His325ProfsTer13) NC_000002.12:214780887:GAAAGTCTATTGTGA:GA p.(His325ProfsTer13) NC_000002.12:214780887:GAAAGTCTATTGT: Analogous +NM_000038.6:c.4502del NP_000029.2:p.Ser1501fs NC_000005.10:112840095:C: p.(Ser1501PhefsTer6) NC_000005.10:112840095:C: p.(Ser1501PhefsTer6) NC_000005.10:112840095:C: Analogous +NM_000038.6:c.4558dup NP_000029.2:p.Val1520fs NC_000005.10:112840151:G:GG p.(Val1520GlyfsTer13) NC_000005.10:112840151:G:GG p.(Val1520GlyfsTer13) ERR:SPDI Analogous +NM_000059.4:c.4547_4553dup NP_000050.3:p.Glu1518fs NC_000013.11:32338896:AAAGATCAAAGA:AAAGATCAAAGATCAAAGA p.(Glu1518AspfsTer13) NC_000013.11:32338896:AAAGATCAAAGA:AAAGATCAAAGATCAAAGA p.(Glu1518AspfsTer13) ERR:SPDI Analogous +NM_000038.6:c.3942del NP_000029.2:p.Arg1314fs NC_000005.10:112839534:GG:G p.(Arg1314SerfsTer7) NC_000005.10:112839534:GG:G p.(Arg1314SerfsTer7) NC_000005.10:112839535:G: Analogous +NM_000038.6:c.1355_1356insAT NP_000029.2:p.Leu453fs NC_000005.10:112821937:T:TAT p.(Leu453PhefsTer2) NC_000005.10:112821937:T:AT p.(Leu453PhefsTer2) NC_000005.10:112821938:TT:AT Analogous +NM_000038.6:c.3640_3643del NP_000029.2:p.Ser1214fs NC_000005.10:112839231:CAAGCA:CA p.(Ser1214ValfsTer50) NC_000005.10:112839231:CAAGCA:CA p.(Ser1214ValfsTer50) NC_000005.10:112839233:AGCA: Analogous +NM_000038.6:c.1365del NP_000029.2:p.Lys455fs NC_000005.10:112821945:AAA:AA p.(Lys455AsnfsTer12) NC_000005.10:112821945:AAA:AA p.(Lys455AsnfsTer12) NC_000005.10:112821947:A: Analogous +NM_000465.4:c.1790_1794dup NP_000456.2:p.Glu599fs NC_000002.12:214745737:AGTATA:AGTATAGTATA p.(Glu599IlefsTer8) NC_000002.12:214745737:AGTATA:AGTATAGTATA p.(Glu599IlefsTer8) ERR:SPDI Analogous +NM_000038.6:c.6579dup NP_000029.2:p.Val2194fs NC_000005.10:112842166:AAAAAAA:AAAAAAAA p.(Val2194SerfsTer3) NC_000005.10:112842166:AAAAAAA:AAAAAAAA p.(Val2194SerfsTer3) ERR:SPDI Analogous +NM_006766.5:c.5505_5506del NP_006757.2:p.Asn1836fs NC_000008.11:41932713:TG: p.(Asn1836HisfsTer42) NC_000008.11:41932713:TG: p.(Asn1836HisfsTer42) NC_000008.11:41932713:TG: Analogous +NM_001131005.2:c.19C>T NP_001124477.1:p.Gln7Ter NC_000005.10:88823769:G:A p.(Gln7Ter) NC_000005.10:88823769:G:A p.(Gln7Ter) NC_000005.10:88823769:G:A Identity +NM_003482.4:c.2871dup NP_003473.3:p.Glu958fs NC_000012.12:49050716:T:TT p.(Glu958ArgfsTer11) NC_000012.12:49050716:T:TT p.(Glu958ArgfsTer11) ERR:SPDI Analogous +NM_000038.6:c.1879_1880del NP_000029.2:p.Asn627fs NC_000005.10:112835084:AAA:A p.(Asn627HisfsTer6) NC_000005.10:112835084:AAA:A p.(Asn627HisfsTer6) NC_000005.10:112835085:AA: Analogous +NM_001317184.2:c.638G>A NP_001304113.1:p.Trp213Ter NC_000016.10:68808798:G:A p.(Trp213Ter) NC_000016.10:68808798:G:A p.(Trp213Ter) NC_000016.10:68808798:G:A Identity +NM_000038.6:c.395del NP_000029.2:p.Gly132fs NC_000005.10:112767361:GG:G p.(Gly132AspfsTer3) NC_000005.10:112767361:GG:G p.(Gly132AspfsTer3) NC_000005.10:112767362:G: Analogous +NM_020988.3:c.4G>C NP_066268.1:p.Gly2Arg NC_000016.10:56192238:G:C p.(Gly2Arg) NC_000016.10:56192238:G:C p.(Gly2Arg) NC_000016.10:56192238:G:C Identity +NM_001256182.2:c.3228_3232del NP_001243111.1:p.Arg1076fs NC_000016.10:89283309:CTTTCCTTTC:CTTTC p.(Arg1076SerfsTer24) NC_000016.10:89283309:CTTTCCTTTC:CTTTC p.(Arg1076SerfsTer24) NC_000016.10:89283309:CTTTC: Analogous +NM_001080463.2:c.7507G>T NP_001073932.1:p.Val2503Phe NC_000011.10:103191585:G:T p.(Val2503Phe) NC_000011.10:103191585:G:T p.(Val2503Phe) NC_000011.10:103191585:G:T Identity +NM_001256468.2:c.3904dup NP_001243397.1:p.Cys1302fs NC_000010.11:75029275:TT:TTT p.(Cys1302LeufsTer2) NC_000010.11:75029275:TT:TTT p.(Cys1302LeufsTer2) ERR:SPDI Analogous +NM_001079668.3:c.989_1016dup NP_001073136.1:p.Ala341fs NC_000014.9:36517467:CCGCTGCCCACGGAGATGGCCGCTGCCGCCGC:CCGCTGCCCACGGAGATGGCCGCTGCCGCCGCTGCCCACGGAGATGGCCGCTGCCGCCGC p.(Ala341SerfsTer107) NC_000014.9:36517467:CCGCTGCCCACGGAGATGGCCGCTGCCGCCGC:CCGCTGCCCACGGAGATGGCCGCTGCCGCCGCTGCCCACGGAGATGGCCGCTGCCGCCGC p.(Ala341SerfsTer107) ERR:SPDI Analogous +NM_139055.4:c.2715C>G NP_620686.1:p.Cys905Trp NC_000011.10:130473682:C:G p.(Cys905Trp) NC_000011.10:130473682:C:G p.(Cys905Trp) NC_000011.10:130473682:C:G Identity +NM_001393363.1:c.1016dup NP_001380292.1:p.Tyr340fs NC_000003.12:33132647:A:AA p.(Tyr340ValfsTer11) NC_000003.12:33132647:A:AA p.(Tyr340ValfsTer11) ERR:SPDI Analogous +NM_001190906.2:c.826C>T NP_001177835.1:p.His276Tyr NC_000007.14:138116629:C:T p.(His276Tyr) NC_000007.14:138116629:C:T p.(His276Tyr) NC_000007.14:138116629:C:T Identity +NM_001256850.1:c.82858C>T NP_001243779.1:p.Pro27620Ser NC_000002.12:178557480:G:A p.(Pro27620Ser) NC_000002.12:178557480:G:A p.(Pro27620Ser) NC_000002.12:178557480:G:A Identity +NM_000084.5:c.566G>A NP_000075.1:p.Trp189Ter NC_000023.11:50081689:G:A p.(Trp189Ter) NC_000023.11:50081689:G:A p.(Trp189Ter) NC_000023.11:50081689:G:A Identity +NM_001018037.2:c.8031del NP_001018047.1:p.Phe2680fs NC_000009.12:77360577:T: p.(Phe2680LeufsTer5) NC_000009.12:77360577:T: p.(Phe2680LeufsTer5) NC_000009.12:77360577:T: Analogous +NM_130466.4:c.2545del NP_569733.2:p.Tyr849fs NC_000012.12:109524478:TT:T p.(Tyr849ThrfsTer14) NC_000012.12:109524478:TT:T p.(Tyr849ThrfsTer14) NC_000012.12:109524479:T: Analogous +NM_001378418.1:c.569C>G NP_001365347.1:p.Ser190Cys NC_000022.11:42214736:G:C p.(Ser190Cys) NC_000022.11:42214736:G:C p.(Ser190Cys) NC_000022.11:42214736:G:C Identity +NM_001242466.2:c.539G>A NP_001229395.1:p.Arg180Lys NC_000005.10:68295206:G:A p.(Arg180Lys) NC_000005.10:68295206:G:A p.(Arg180Lys) NC_000005.10:68295206:G:A Identity +NM_000836.4:c.3242G>A NP_000827.2:p.Gly1081Asp NC_000019.10:48443167:G:A p.(Gly1081Asp) NC_000019.10:48443167:G:A p.(Gly1081Asp) NC_000019.10:48443167:G:A Identity +NM_000350.3:c.5371dup NP_000341.2:p.Ala1791fs NC_000001.11:94014631:C:CC p.(Ala1791GlyfsTer9) NC_000001.11:94014631:C:CC p.(Ala1791GlyfsTer9) ERR:SPDI Analogous +NM_001366177.2:c.7736A>C NP_001353106.1:p.His2579Pro NC_000001.11:155347737:T:G p.(His2579Pro) NC_000001.11:155347737:T:G p.(His2579Pro) NC_000001.11:155347737:T:G Identity +NM_001413017.1:c.2171G>C NP_001399946.1:p.Gly724Ala NC_000008.11:144513136:C:G p.(Gly724Ala) NC_000008.11:144513136:C:G p.(Gly724Ala) NC_000008.11:144513136:C:G Identity +NM_000292.3:c.1153A>G NP_000283.1:p.Lys385Glu NC_000023.11:18931732:T:C p.(Lys385Glu) NC_000023.11:18931732:T:C p.(Lys385Glu) NC_000023.11:18931732:T:C Identity +NM_001012509.4:c.1182C>G NP_001012527.2:p.Tyr394Ter NC_000005.10:33947348:G:C p.(Tyr394Ter) NC_000005.10:33947348:G:C p.(Tyr394Ter) NC_000005.10:33947348:G:C Identity +NM_138477.4:c.885_886del NP_612486.2:p.Arg295fs NC_000015.10:42735566:CTCT:CT p.(Arg295SerfsTer20) NC_000015.10:42735566:CTCT:CT p.(Arg295SerfsTer20) NC_000015.10:42735566:CT: Analogous +NM_000137.4:c.1001C>T NP_000128.1:p.Ser334Phe NC_000015.10:80180163:C:T p.(Ser334Phe) NC_000015.10:80180163:C:T p.(Ser334Phe) NC_000015.10:80180163:C:T Identity +NM_001410908.1:c.4952dup NP_001397837.1:p.Pro1652fs NC_000007.14:105112832:CC:CCC p.(Pro1652ThrfsTer175) NC_000007.14:105112832:CC:CCC p.(Pro1652ThrfsTer175) ERR:SPDI Analogous +NM_001110792.2:c.1130A>G NP_001104262.1:p.Glu377Gly NC_000023.11:154030733:T:C p.(Glu377Gly) NC_000023.11:154030733:T:C p.(Glu377Gly) NC_000023.11:154030733:T:C Identity +NM_001370356.1:c.640C>T NP_001357285.1:p.Gln214Ter NC_000011.10:124878755:C:T p.(Gln214Ter) NC_000011.10:124878755:C:T p.(Gln214Ter) NC_000011.10:124878755:C:T Identity +NM_001126054.3:c.1930G>T NP_001119526.1:p.Gly644Ter NC_000023.11:41553758:C:A p.(Gly644Ter) NC_000023.11:41553758:C:A p.(Gly644Ter) NC_000023.11:41553758:C:A Identity +NM_000815.5:c.1049C>T NP_000806.2:p.Pro350Leu NC_000001.11:2029751:C:T p.(Pro350Leu) NC_000001.11:2029751:C:T p.(Pro350Leu) NC_000001.11:2029751:C:T Identity +NM_001077397.1:c.1472C>T NP_001070865.1:p.Thr491Ile NC_000001.11:234607380:G:A p.(Thr491Ile) NC_000001.11:234607380:G:A p.(Thr491Ile) NC_000001.11:234607380:G:A Identity +NM_003737.4:c.395G>A NP_003728.1:p.Arg132Gln NC_000011.10:6641218:C:T p.(Arg132Gln) NC_000011.10:6641218:C:T p.(Arg132Gln) NC_000011.10:6641218:C:T Identity +NM_014698.3:c.887G>A NP_055513.2:p.Arg296Gln NC_000001.11:225862518:C:T p.(Arg296Gln) NC_000001.11:225862518:C:T p.(Arg296Gln) NC_000001.11:225862518:C:T Identity +NM_001256182.2:c.1471G>T NP_001243111.1:p.Asp491Tyr NC_000016.10:89285070:C:A p.(Asp491Tyr) NC_000016.10:89285070:C:A p.(Asp491Tyr) NC_000016.10:89285070:C:A Identity +NM_001283009.2:c.2767A>G NP_001269938.1:p.Lys923Glu NC_000020.11:63692918:A:G p.(Lys923Glu) NC_000020.11:63692918:A:G p.(Lys923Glu) NC_000020.11:63692918:A:G Identity +NM_001198557.2:c.286C>T NP_001185486.1:p.Gln96Ter NC_000005.10:126811874:C:T p.(Gln96Ter) NC_000005.10:126811874:C:T p.(Gln96Ter) NC_000005.10:126811874:C:T Identity +NM_001280541.2:c.1838T>G NP_001267470.1:p.Met613Arg NC_000003.12:129488266:T:G p.(Met613Arg) NC_000003.12:129488266:T:G p.(Met613Arg) NC_000003.12:129488266:T:G Identity +NM_000404.4:c.739A>G NP_000395.3:p.Asn247Asp NC_000003.12:33053543:T:C p.(Asn247Asp) NC_000003.12:33053543:T:C p.(Asn247Asp) NC_000003.12:33053543:T:C Identity +NM_006996.3:c.314G>A NP_008927.1:p.Gly105Glu NC_000001.11:169477647:C:T p.(Gly105Glu) NC_000001.11:169477647:C:T p.(Gly105Glu) NC_000001.11:169477647:C:T Identity +NM_000540.3:c.14624T>A NP_000531.2:p.Met4875Lys NC_000019.10:38580481:T:A p.(Met4875Lys) NC_000019.10:38580481:T:A p.(Met4875Lys) NC_000019.10:38580481:T:A Identity +NM_001042594.2:c.1305C>G NP_001036059.1:p.Phe435Leu NC_000007.14:124825345:G:C p.(Phe435Leu) NC_000007.14:124825345:G:C p.(Phe435Leu) NC_000007.14:124825345:G:C Identity +NM_001032221.6:c.1337T>C NP_001027392.1:p.Leu446Pro NC_000009.12:127676730:T:C p.(Leu446Pro) NC_000009.12:127676730:T:C p.(Leu446Pro) NC_000009.12:127676730:T:C Identity +NM_002440.4:c.289G>A NP_002431.2:p.Ala97Thr NC_000001.11:75803774:G:A p.(Ala97Thr) NC_000001.11:75803774:G:A p.(Ala97Thr) NC_000001.11:75803774:G:A Identity +NM_000465.4:c.695_696delinsT NP_000456.2:p.Lys232fs NC_000002.12:214781177:TT:A p.(Lys232MetfsTer23) NC_000002.12:214781177:TTT:TA p.(Lys232MetfsTer23) NC_000002.12:214781177:TT:A Analogous +NM_000321.3:c.451C>G NP_000312.2:p.Leu151Val NC_000013.11:48345149:C:G p.(Leu151Val) NC_000013.11:48345149:C:G p.(Leu151Val) NC_000013.11:48345149:C:G Identity +NM_000546.6:c.473_477del NP_000537.3:p.Arg158fs NC_000017.11:7675134:GGCGCGG:GG p.(Arg158HisfsTer21) NC_000017.11:7675134:GGCGCGG:GG p.(Arg158HisfsTer21) NC_000017.11:7675134:GGCGC: Analogous +NM_001042594.2:c.720del NP_001036059.1:p.Arg241fs NC_000007.14:124842856:GGG:GG p.(Arg241GlufsTer28) NC_000007.14:124842856:GGG:GG p.(Arg241GlufsTer28) NC_000007.14:124842856:G: Analogous +NM_001211.6:c.1957C>G NP_001202.5:p.Gln653Glu NC_000015.10:40206405:C:G p.(Gln653Glu) NC_000015.10:40206405:C:G p.(Gln653Glu) NC_000015.10:40206405:C:G Identity +NM_001320867.2:c.428del NP_001307796.1:p.Asp143fs NC_000019.10:43511480:T: p.(Asp143ValfsTer4) NC_000019.10:43511480:T: p.(Asp143ValfsTer4) NC_000019.10:43511480:T: Analogous +NM_000321.3:c.2173G>T NP_000312.2:p.Val725Leu NC_000013.11:48463796:G:T p.(Val725Leu) NC_000013.11:48463796:G:T p.(Val725Leu) NC_000013.11:48463796:G:T Identity +NM_001211.6:c.1348G>A NP_001202.5:p.Glu450Lys NC_000015.10:40199673:G:A p.(Glu450Lys) NC_000015.10:40199673:G:A p.(Glu450Lys) NC_000015.10:40199673:G:A Identity +NM_002907.4:c.977A>T NP_002898.2:p.Asp326Val NC_000012.12:21475796:T:A p.(Asp326Val) NC_000012.12:21475796:T:A p.(Asp326Val) NC_000012.12:21475796:T:A Identity +NM_002907.4:c.939A>C NP_002898.2:p.Lys313Asn NC_000012.12:21476920:T:G p.(Lys313Asn) NC_000012.12:21476920:T:G p.(Lys313Asn) NC_000012.12:21476920:T:G Identity +NM_002439.5:c.106T>C NP_002430.3:p.Ser36Pro NC_000005.10:80654832:T:C p.(Ser36Pro) NC_000005.10:80654832:T:C p.(Ser36Pro) NC_000005.10:80654832:T:C Identity +NM_000384.3:c.9196G>A NP_000375.3:p.Gly3066Arg NC_000002.12:21007671:C:T p.(Gly3066Arg) NC_000002.12:21007671:C:T p.(Gly3066Arg) NC_000002.12:21007671:C:T Identity +NM_001164269.2:c.131C>G NP_001157741.1:p.Ala44Gly NC_000015.10:40701106:C:G p.(Ala44Gly) NC_000015.10:40701106:C:G p.(Ala44Gly) NC_000015.10:40701106:C:G Identity +NM_001211.6:c.2262A>T NP_001202.5:p.Glu754Asp NC_000015.10:40209752:A:T p.(Glu754Asp) NC_000015.10:40209752:A:T p.(Glu754Asp) NC_000015.10:40209752:A:T Identity +NM_001164270.2:c.239A>C NP_001157742.1:p.Lys80Thr NC_000015.10:40706189:A:C p.(Lys80Thr) NC_000015.10:40706189:A:C p.(Lys80Thr) NC_000015.10:40706189:A:C Identity +NM_001365276.2:c.2296C>G NP_001352205.1:p.Arg766Gly NC_000006.12:32095137:G:C p.(Arg766Gly) NC_000006.12:32095137:G:C p.(Arg766Gly) NC_000006.12:32095137:G:C Identity +NM_000384.3:c.11653G>T NP_000375.3:p.Ala3885Ser NC_000002.12:21005214:C:A p.(Ala3885Ser) NC_000002.12:21005214:C:A p.(Ala3885Ser) NC_000002.12:21005214:C:A Identity +NM_001407274.1:c.1139T>C NP_001394203.1:p.Ile380Thr NC_000003.12:14141727:T:C p.(Ile380Thr) NC_000003.12:14141727:T:C p.(Ile380Thr) NC_000003.12:14141727:T:C Identity +NM_000059.4:c.2212T>G NP_000050.3:p.Cys738Gly NC_000013.11:32336566:T:G p.(Cys738Gly) NC_000013.11:32336566:T:G p.(Cys738Gly) NC_000013.11:32336566:T:G Identity +NM_001256850.1:c.40964TAG[1] NP_001243779.1:p.Val13656del NC_000002.12:178620717:CTACTA:CTA p.(Val13656del) NC_000002.12:178620722:A:CTA ERR:Parse ERR:Parse Identity +NM_001353765.2:c.941G>A NP_001340694.1:p.Arg314Lys NC_000002.12:29196788:C:T p.(Arg314Lys) NC_000002.12:29196788:C:T p.(Arg314Lys) NC_000002.12:29196788:C:T Identity +NM_000059.4:c.2294A>G NP_000050.3:p.Asn765Ser NC_000013.11:32336648:A:G p.(Asn765Ser) NC_000013.11:32336648:A:G p.(Asn765Ser) NC_000013.11:32336648:A:G Identity +NM_001256850.1:c.100690_100691del NP_001243779.1:p.Asn33564fs NC_000002.12:178531000:TTTT:TT p.(Asn33564GlnfsTer2) NC_000002.12:178531000:TTTT:TT p.(Asn33564GlnfsTer2) NC_000002.12:178531000:TT: Analogous +NM_002354.3:c.75A>C NP_002345.2:p.Glu25Asp NC_000002.12:47369579:A:C p.(Glu25Asp) NC_000002.12:47369579:A:C p.(Glu25Asp) NC_000002.12:47369579:A:C Identity +NM_017617.5:c.4166G>T NP_060087.3:p.Ser1389Ile NC_000009.12:136505729:C:A p.(Ser1389Ile) NC_000009.12:136505729:C:A p.(Ser1389Ile) NC_000009.12:136505729:C:A Identity +NM_003036.4:c.965C>G NP_003027.1:p.Pro322Arg NC_000001.11:2229730:C:G p.(Pro322Arg) NC_000001.11:2229730:C:G p.(Pro322Arg) NC_000001.11:2229730:C:G Identity +NM_000214.3:c.3510T>G NP_000205.1:p.Phe1170Leu NC_000020.11:10639644:A:C p.(Phe1170Leu) NC_000020.11:10639644:A:C p.(Phe1170Leu) NC_000020.11:10639644:A:C Identity +NM_017617.5:c.6290C>T NP_060087.3:p.Pro2097Leu NC_000009.12:136497448:G:A p.(Pro2097Leu) NC_000009.12:136497448:G:A p.(Pro2097Leu) NC_000009.12:136497448:G:A Identity +NM_000057.4:c.1303C>G NP_000048.1:p.Leu435Val NC_000015.10:90760675:C:G p.(Leu435Val) NC_000015.10:90760675:C:G p.(Leu435Val) NC_000015.10:90760675:C:G Identity +NM_000038.6:c.2122_2123insTTCATTCATGCTCA NP_000029.2:p.Lys708fs NC_000005.10:112837708:CATGCTCA:CATGCTCATTCATTCATGCTCA p.(Lys708IlefsTer15) NC_000005.10:112837715:A:TTCATTCATGCTCA p.(Lys708IlefsTer15) NC_000005.10:112837716:AA:TTCATTCATGCTCA Analogous +NM_000090.4:c.1867A>G NP_000081.2:p.Thr623Ala NC_000002.12:188997386:A:G p.(Thr623Ala) NC_000002.12:188997386:A:G p.(Thr623Ala) NC_000002.12:188997386:A:G Identity +NM_001082486.2:c.670A>C NP_001075955.2:p.Ser224Arg NC_000016.10:67658791:T:G p.(Ser224Arg) NC_000016.10:67658791:T:G p.(Ser224Arg) NC_000016.10:67658791:T:G Identity +NM_000057.4:c.1315A>T NP_000048.1:p.Met439Leu NC_000015.10:90760687:A:T p.(Met439Leu) NC_000015.10:90760687:A:T p.(Met439Leu) NC_000015.10:90760687:A:T Identity +NM_000118.4:c.89G>A NP_000109.1:p.Cys30Tyr NC_000009.12:127843223:C:T p.(Cys30Tyr) NC_000009.12:127843223:C:T p.(Cys30Tyr) NC_000009.12:127843223:C:T Identity +NM_000038.6:c.1537G>T NP_000029.2:p.Val513Leu NC_000005.10:112827235:G:T p.(Val513Leu) NC_000005.10:112827235:G:T p.(Val513Leu) NC_000005.10:112827235:G:T Identity +NM_000038.6:c.536C>A NP_000029.2:p.Ser179Tyr NC_000005.10:112780793:C:A p.(Ser179Tyr) NC_000005.10:112780793:C:A p.(Ser179Tyr) NC_000005.10:112780793:C:A Identity +NM_000057.4:c.704T>C NP_000048.1:p.Val235Ala NC_000015.10:90749971:T:C p.(Val235Ala) NC_000015.10:90749971:T:C p.(Val235Ala) NC_000015.10:90749971:T:C Identity +NM_000038.6:c.7288G>A NP_000029.2:p.Asp2430Asn NC_000005.10:112842881:G:A p.(Asp2430Asn) NC_000005.10:112842881:G:A p.(Asp2430Asn) NC_000005.10:112842881:G:A Identity +NM_001040633.2:c.1017C>A NP_001035723.1:p.His339Gln NC_000007.14:151568799:G:T p.(His339Gln) NC_000007.14:151568799:G:T p.(His339Gln) NC_000007.14:151568799:G:T Identity +NM_198578.4:c.7147C>T NP_940980.4:p.Leu2383Phe NC_000012.12:40363519:C:T p.(Leu2383Phe) NC_000012.12:40363519:C:T p.(Leu2383Phe) NC_000012.12:40363519:C:T Identity +NM_001294332.2:c.1825del NP_001281261.1:p.Val609fs NC_000005.10:256393:G: p.(Val609SerfsTer25) NC_000005.10:256393:G: p.(Val609SerfsTer25) NC_000005.10:256393:G: Analogous +NM_000179.3:c.2037G>C NP_000170.1:p.Leu679Phe NC_000002.12:47800019:G:C p.(Leu679Phe) NC_000002.12:47800019:G:C p.(Leu679Phe) NC_000002.12:47800019:G:C Identity +NM_000245.4:c.2363T>G NP_000236.2:p.Val788Gly NC_000007.14:116759488:T:G p.(Val788Gly) NC_000007.14:116759488:T:G p.(Val788Gly) NC_000007.14:116759488:T:G Identity +NM_000245.4:c.4017_4018delinsAG NP_000236.2:p.Ile1340Val NC_000007.14:116795967:GA:AG p.(Ile1340Val) NC_000007.14:116795967:GA:AG p.(Ile1340Val) NC_000007.14:116795967:GA:AG Identity +NM_001184.4:c.3335A>T NP_001175.2:p.Asp1112Val NC_000003.12:142547746:T:A p.(Asp1112Val) NC_000003.12:142547746:T:A p.(Asp1112Val) NC_000003.12:142547746:T:A Identity +NM_001347828.2:c.2642T>G NP_001334757.1:p.Phe881Cys NC_000004.12:54287433:T:G p.(Phe881Cys) NC_000004.12:54287433:T:G p.(Phe881Cys) NC_000004.12:54287433:T:G Identity +NM_152594.3:c.829G>A NP_689807.1:p.Asp277Asn NC_000015.10:38351157:G:A p.(Asp277Asn) NC_000015.10:38351157:G:A p.(Asp277Asn) NC_000015.10:38351157:G:A Identity +NM_000323.2:c.241C>G NP_000314.1:p.His81Asp NC_000010.11:43100625:C:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001277115.2:c.4777A>G NP_001264044.1:p.Arg1593Gly NC_000007.14:21637661:A:G p.(Arg1593Gly) NC_000007.14:21637661:A:G p.(Arg1593Gly) NC_000007.14:21637661:A:G Identity +NM_001008844.3:c.3439C>A NP_001008844.1:p.Gln1147Lys NC_000006.12:7579628:C:A p.(Gln1147Lys) NC_000006.12:7579628:C:A p.(Gln1147Lys) NC_000006.12:7579628:C:A Identity +NM_001407296.1:c.533A>C NP_001394225.1:p.His178Pro NC_000016.10:23635952:T:G p.(His178Pro) NC_000016.10:23635952:T:G p.(His178Pro) NC_000016.10:23635952:T:G Identity +NM_001184.4:c.1840G>A NP_001175.2:p.Ala614Thr NC_000003.12:142558668:C:T p.(Ala614Thr) NC_000003.12:142558668:C:T p.(Ala614Thr) NC_000003.12:142558668:C:T Identity +NM_001184.4:c.6841G>T NP_001175.2:p.Ala2281Ser NC_000003.12:142466379:C:A p.(Ala2281Ser) NC_000003.12:142466379:C:A p.(Ala2281Ser) NC_000003.12:142466379:C:A Identity +NM_001105281.6:c.283G>A NP_001098751.1:p.Val95Ile NC_000008.11:81527084:C:T p.(Val95Ile) NC_000008.11:81527084:C:T p.(Val95Ile) NC_000008.11:81527084:C:T Identity +NM_002332.3:c.5606G>A NP_002323.2:p.Arg1869His NC_000012.12:57181234:G:A p.(Arg1869His) NC_000012.12:57181234:G:A p.(Arg1869His) NC_000012.12:57181234:G:A Identity +NM_032048.3:c.914C>T NP_114437.2:p.Thr305Met NC_000018.10:2891040:C:T p.(Thr305Met) NC_000018.10:2891040:C:T p.(Thr305Met) NC_000018.10:2891040:C:T Identity +NM_001005498.4:c.845C>A NP_001005498.2:p.Pro282Gln NC_000017.11:76477254:G:T p.(Pro282Gln) NC_000017.11:76477254:G:T p.(Pro282Gln) NC_000017.11:76477254:G:T Identity +NM_001166434.3:c.1769G>A NP_001159906.1:p.Arg590Gln NC_000003.12:52789727:G:A p.(Arg590Gln) NC_000003.12:52789727:G:A p.(Arg590Gln) NC_000003.12:52789727:G:A Identity +NM_012455.3:c.182A>T NP_036587.2:p.Gln61Leu NC_000002.12:113182637:A:T p.(Gln61Leu) NC_000002.12:113182637:A:T p.(Gln61Leu) NC_000002.12:113182637:A:T Identity +NM_016642.4:c.8569G>A NP_057726.4:p.Gly2857Ser NC_000015.10:41857289:C:T p.(Gly2857Ser) NC_000015.10:41857289:C:T p.(Gly2857Ser) NC_000015.10:41857289:C:T Identity +NM_006500.3:c.168C>A NP_006491.2:p.Asn56Lys NC_000011.10:119315162:G:T p.(Asn56Lys) NC_000011.10:119315162:G:T p.(Asn56Lys) NC_000011.10:119315162:G:T Identity +NM_198488.5:c.1292G>T NP_940890.4:p.Arg431Leu NC_000008.11:143728168:C:A p.(Arg431Leu) NC_000008.11:143728168:C:A p.(Arg431Leu) NC_000008.11:143728168:C:A Identity +NM_001164326.2:c.488C>T NP_001157798.1:p.Thr163Ile NC_000005.10:138170361:G:A p.(Thr163Ile) NC_000005.10:138170361:G:A p.(Thr163Ile) NC_000005.10:138170361:G:A Identity +NM_001320941.2:c.2039C>G NP_001307870.2:p.Thr680Ser NC_000015.10:78498039:C:G p.(Thr680Ser) NC_000015.10:78498039:C:G p.(Thr680Ser) NC_000015.10:78498039:C:G Identity +NM_022568.4:c.493A>C NP_072090.1:p.Ile165Leu NC_000006.12:134939364:T:G p.(Ile165Leu) NC_000006.12:134939364:T:G p.(Ile165Leu) NC_000006.12:134939364:T:G Identity +NM_006392.4:c.809G>A NP_006383.2:p.Arg270His NC_000020.11:2655645:G:A p.(Arg270His) NC_000020.11:2655645:G:A p.(Arg270His) NC_000020.11:2655645:G:A Identity +NM_001010880.3:c.1382T>C NP_001010880.2:p.Ile461Thr NC_000019.10:40075059:A:G p.(Ile461Thr) NC_000019.10:40075059:A:G p.(Ile461Thr) NC_000019.10:40075059:A:G Identity +NM_001205296.2:c.479G>A NP_001192225.1:p.Arg160Gln NC_000009.12:132390794:C:T p.(Arg160Gln) NC_000009.12:132390794:C:T p.(Arg160Gln) NC_000009.12:132390794:C:T Identity +NM_020893.6:c.3412A>G NP_065944.3:p.Lys1138Glu NC_000009.12:97360029:A:G p.(Lys1138Glu) NC_000009.12:97360029:A:G p.(Lys1138Glu) NC_000009.12:97360029:A:G Identity +NM_002371.4:c.197C>G NP_002362.1:p.Thr66Ser NC_000002.12:95048061:C:G p.(Thr66Ser) NC_000002.12:95048061:C:G p.(Thr66Ser) NC_000002.12:95048061:C:G Identity +NM_001198863.2:c.1325T>C NP_001185792.1:p.Met442Thr NC_000020.11:35626711:A:G p.(Met442Thr) NC_000020.11:35626711:A:G p.(Met442Thr) NC_000020.11:35626711:A:G Identity +NM_014423.4:c.2704C>T NP_055238.1:p.Arg902Trp NC_000005.10:132889106:G:A p.(Arg902Trp) NC_000005.10:132889106:G:A p.(Arg902Trp) NC_000005.10:132889106:G:A Identity +NM_018059.5:c.2018G>A NP_060529.4:p.Arg673His NC_000007.14:4815398:C:T p.(Arg673His) NC_000007.14:4815398:C:T p.(Arg673His) NC_000007.14:4815398:C:T Identity +NM_001326559.2:c.394G>A NP_001313488.2:p.Ala132Thr NC_000002.12:219629319:G:A p.(Ala132Thr) NC_000002.12:219629319:G:A p.(Ala132Thr) NC_000002.12:219629319:G:A Identity +NM_001394531.1:c.5104C>T NP_001381460.1:p.Arg1702Cys NC_000010.11:48811597:C:T p.(Arg1702Cys) NC_000010.11:48811597:C:T p.(Arg1702Cys) NC_000010.11:48811597:C:T Identity +NM_001170690.3:c.329G>A NP_001164161.1:p.Arg110His NC_000011.10:9079436:C:T p.(Arg110His) NC_000011.10:9079436:C:T p.(Arg110His) NC_000011.10:9079436:C:T Identity +NM_032489.3:c.563G>T NP_115878.2:p.Gly188Val NC_000012.12:6644517:C:A p.(Gly188Val) NC_000012.12:6644517:C:A p.(Gly188Val) NC_000012.12:6644517:C:A Identity +NM_207361.6:c.7389G>T NP_997244.4:p.Lys2463Asn NC_000013.11:38859459:G:T p.(Lys2463Asn) NC_000013.11:38859459:G:T p.(Lys2463Asn) NC_000013.11:38859459:G:T Identity +NM_173588.4:c.1564G>C NP_775859.4:p.Asp522His NC_000011.10:18714591:C:G p.(Asp522His) NC_000011.10:18714591:C:G p.(Asp522His) NC_000011.10:18714591:C:G Identity +NM_144666.3:c.5194G>A NP_653267.2:p.Gly1732Ser NC_000011.10:6546132:G:A p.(Gly1732Ser) NC_000011.10:6546132:G:A p.(Gly1732Ser) NC_000011.10:6546132:G:A Identity +NM_001033518.2:c.944A>G NP_001028690.1:p.Asn315Ser NC_000007.14:5227274:A:G p.(Asn315Ser) NC_000007.14:5227274:A:G p.(Asn315Ser) NC_000007.14:5227274:A:G Identity +NM_004274.5:c.4514A>T NP_004265.3:p.Asp1505Val NC_000014.9:32822326:A:T p.(Asp1505Val) NC_000014.9:32822326:A:T p.(Asp1505Val) NC_000014.9:32822326:A:T Identity +NM_001330653.3:c.1009G>T NP_001317582.1:p.Asp337Tyr NC_000009.12:35310713:G:T p.(Asp337Tyr) NC_000009.12:35310713:G:T p.(Asp337Tyr) NC_000009.12:35310713:G:T Identity +NM_001005566.3:c.394A>G NP_001005566.1:p.Thr132Ala NC_000011.10:58422867:T:C p.(Thr132Ala) NC_000011.10:58422867:T:C p.(Thr132Ala) NC_000011.10:58422867:T:C Identity +NM_001005494.2:c.464T>C NP_001005494.1:p.Leu155Ser NC_000012.12:55551689:T:C p.(Leu155Ser) NC_000012.12:55551689:T:C p.(Leu155Ser) NC_000012.12:55551689:T:C Identity +NM_016453.4:c.881G>T NP_057537.1:p.Ser294Ile NC_000003.12:48681497:C:A p.(Ser294Ile) NC_000003.12:48681497:C:A p.(Ser294Ile) NC_000003.12:48681497:C:A Identity +NM_020777.3:c.1102G>A NP_065828.2:p.Val368Ile NC_000004.12:7667153:G:A p.(Val368Ile) NC_000004.12:7667153:G:A p.(Val368Ile) NC_000004.12:7667153:G:A Identity +NM_003966.3:c.143G>A NP_003957.2:p.Arg48Gln NC_000005.10:9337793:C:T p.(Arg48Gln) NC_000005.10:9337793:C:T p.(Arg48Gln) NC_000005.10:9337793:C:T Identity +NM_152339.4:c.1184G>A NP_689552.2:p.Arg395His NC_000016.10:89697424:C:T p.(Arg395His) NC_000016.10:89697424:C:T p.(Arg395His) NC_000016.10:89697424:C:T Identity +NM_015221.4:c.1535C>T NP_056036.1:p.Ser512Phe NC_000010.11:99955938:G:A p.(Ser512Phe) NC_000010.11:99955938:G:A p.(Ser512Phe) NC_000010.11:99955938:G:A Identity +NM_001128829.4:c.645G>C NP_001122301.1:p.Glu215Asp NC_000008.11:85329712:C:G p.(Glu215Asp) NC_000008.11:85329712:C:G p.(Glu215Asp) NC_000008.11:85329712:C:G Identity +NM_001297732.2:c.112C>T NP_001284661.1:p.Leu38Phe NC_000004.12:73069537:G:A p.(Leu38Phe) NC_000004.12:73069537:G:A p.(Leu38Phe) NC_000004.12:73069537:G:A Identity +NM_001317056.2:c.428G>A NP_001303985.1:p.Gly143Asp NC_000007.14:151023995:C:T p.(Gly143Asp) NC_000007.14:151023995:C:T p.(Gly143Asp) NC_000007.14:151023995:C:T Identity +NM_001004441.3:c.16G>A NP_001004441.2:p.Glu6Lys NC_000005.10:80560003:C:T p.(Glu6Lys) NC_000005.10:80560003:C:T p.(Glu6Lys) NC_000005.10:80560003:C:T Identity +NM_001350072.2:c.859C>G NP_001337001.1:p.Gln287Glu NC_000001.11:248855743:G:C p.(Gln287Glu) NC_000001.11:248855743:G:C p.(Gln287Glu) NC_000001.11:248855743:G:C Identity +NM_001395010.1:c.403G>A NP_001381939.1:p.Glu135Lys NC_000009.12:121757052:G:A p.(Glu135Lys) NC_000009.12:121757052:G:A p.(Glu135Lys) NC_000009.12:121757052:G:A Identity +NM_001149.4:c.2509G>A NP_001140.2:p.Ala837Thr NC_000010.11:60059388:C:T p.(Ala837Thr) NC_000010.11:60059388:C:T p.(Ala837Thr) NC_000010.11:60059388:C:T Identity +NM_001007231.3:c.838A>G NP_001007232.2:p.Ile280Val NC_000002.12:68816318:A:G p.(Ile280Val) NC_000002.12:68816318:A:G p.(Ile280Val) NC_000002.12:68816318:A:G Identity +NM_001025109.2:c.52A>C NP_001020280.1:p.Thr18Pro NC_000001.11:207911028:T:G p.(Thr18Pro) NC_000001.11:207911028:T:G p.(Thr18Pro) NC_000001.11:207911028:T:G Identity +NM_153235.4:c.196A>T NP_694967.3:p.Ile66Phe NC_000006.12:139288703:T:A p.(Ile66Phe) NC_000006.12:139288703:T:A p.(Ile66Phe) NC_000006.12:139288703:T:A Identity +NM_015409.5:c.2896C>T NP_056224.3:p.Arg966Trp NC_000012.12:132005144:C:T p.(Arg966Trp) NC_000012.12:132005144:C:T p.(Arg966Trp) NC_000012.12:132005144:C:T Identity +NM_001386109.1:c.275A>G NP_001373038.1:p.Asp92Gly NC_000001.11:103572215:A:G p.(Asp92Gly) NC_000001.11:103572215:A:G p.(Asp92Gly) NC_000001.11:103572215:A:G Identity +NM_001349413.1:c.622G>C NP_001336342.1:p.Asp208His NC_000003.12:183650977:G:C p.(Asp208His) NC_000003.12:183650977:G:C p.(Asp208His) NC_000003.12:183650977:G:C Identity +NM_001300793.2:c.1906A>C NP_001287722.1:p.Ile636Leu NC_000011.10:62605652:T:G p.(Ile636Leu) NC_000011.10:62605652:T:G p.(Ile636Leu) NC_000011.10:62605652:T:G Identity +NM_172241.3:c.1027A>G NP_758441.2:p.Ser343Gly NC_000018.10:22416784:T:C p.(Ser343Gly) NC_000018.10:22416784:T:C p.(Ser343Gly) NC_000018.10:22416784:T:C Identity +NM_001170714.3:c.320A>G NP_001164185.1:p.Lys107Arg NC_000016.10:75242920:T:C p.(Lys107Arg) NC_000016.10:75242920:T:C p.(Lys107Arg) NC_000016.10:75242920:T:C Identity +NM_001035223.4:c.1835C>T NP_001030300.3:p.Ser612Leu NC_000019.10:11397508:G:A p.(Ser612Leu) NC_000019.10:11397508:G:A p.(Ser612Leu) NC_000019.10:11397508:G:A Identity +NM_006345.4:c.1365G>C NP_006336.3:p.Gln455His NC_000004.12:42070637:G:C p.(Gln455His) NC_000004.12:42070637:G:C p.(Gln455His) NC_000004.12:42070637:G:C Identity +NM_001145966.2:c.644G>A NP_001139438.1:p.Ser215Asn NC_000010.11:128112377:C:T p.(Ser215Asn) NC_000010.11:128112377:C:T p.(Ser215Asn) NC_000010.11:128112377:C:T Identity +NM_001098579.3:c.186C>G NP_001092049.2:p.Ser62Arg NC_000011.10:10652036:G:C p.(Ser62Arg) NC_000011.10:10652036:G:C p.(Ser62Arg) NC_000011.10:10652036:G:C Identity +NM_001080457.2:c.986C>T NP_001073926.1:p.Thr329Met NC_000019.10:50518726:G:A p.(Thr329Met) NC_000019.10:50518726:G:A p.(Thr329Met) NC_000019.10:50518726:G:A Identity +NM_001031836.3:c.1211C>T NP_001027006.2:p.Ala404Val NC_000008.11:36833657:C:T p.(Ala404Val) NC_000008.11:36833657:C:T p.(Ala404Val) NC_000008.11:36833657:C:T Identity +NM_001031801.2:c.1900A>G NP_001026971.1:p.Ile634Val NC_000022.11:31276978:A:G p.(Ile634Val) NC_000022.11:31276978:A:G p.(Ile634Val) NC_000022.11:31276978:A:G Identity +NM_014935.5:c.1249C>T NP_055750.2:p.Arg417Trp NC_000001.11:204257627:G:A p.(Arg417Trp) NC_000001.11:204257627:G:A p.(Arg417Trp) NC_000001.11:204257627:G:A Identity +NM_001142633.3:c.752G>A NP_001136105.1:p.Arg251Gln NC_000017.11:8890031:C:T p.(Arg251Gln) NC_000017.11:8890031:C:T p.(Arg251Gln) NC_000017.11:8890031:C:T Identity +NM_001134296.2:c.163T>C NP_001127768.1:p.Tyr55His NC_000008.11:42154849:T:C p.(Tyr55His) NC_000008.11:42154849:T:C p.(Tyr55His) NC_000008.11:42154849:T:C Identity +NM_014681.6:c.1210C>T NP_055496.2:p.His404Tyr NC_000019.10:47358057:C:T p.(His404Tyr) NC_000019.10:47358057:C:T p.(His404Tyr) NC_000019.10:47358057:C:T Identity +NM_153833.3:c.209G>T NP_722575.1:p.Arg70Leu NC_000003.12:129547510:G:T p.(Arg70Leu) NC_000003.12:129547510:G:T p.(Arg70Leu) NC_000003.12:129547510:G:T Identity +NM_001278298.2:c.6671C>T NP_001265227.1:p.Thr2224Met NC_000003.12:130455546:C:T p.(Thr2224Met) NC_000003.12:130455546:C:T p.(Thr2224Met) NC_000003.12:130455546:C:T Identity +NM_003417.5:c.1664C>T NP_003408.1:p.Thr555Ile NC_000019.10:57212760:C:T p.(Thr555Ile) NC_000019.10:57212760:C:T p.(Thr555Ile) NC_000019.10:57212760:C:T Identity +NM_001142633.3:c.2426G>C NP_001136105.1:p.Gly809Ala NC_000017.11:8880973:C:G p.(Gly809Ala) NC_000017.11:8880973:C:G p.(Gly809Ala) NC_000017.11:8880973:C:G Identity +NM_173566.3:c.3211G>A NP_775837.2:p.Val1071Met NC_000022.11:31714627:C:T p.(Val1071Met) NC_000022.11:31714627:C:T p.(Val1071Met) NC_000022.11:31714627:C:T Identity +NM_138805.3:c.71G>A NP_620160.1:p.Arg24Gln NC_000003.12:58653723:C:T p.(Arg24Gln) NC_000003.12:58653723:C:T p.(Arg24Gln) NC_000003.12:58653723:C:T Identity +NM_001270483.1:c.448C>T NP_001257412.1:p.Pro150Ser NC_000022.11:37018284:G:A p.(Pro150Ser) NC_000022.11:37018284:G:A p.(Pro150Ser) NC_000022.11:37018284:G:A Identity +NM_153834.4:c.6059C>T NP_722576.3:p.Pro2020Leu NC_000023.11:136349764:C:T p.(Pro2020Leu) NC_000023.11:136349764:C:T p.(Pro2020Leu) NC_000023.11:136349764:C:T Identity +NM_001855.5:c.1078A>C NP_001846.3:p.Thr360Pro NC_000009.12:99003464:A:C p.(Thr360Pro) NC_000009.12:99003464:A:C p.(Thr360Pro) NC_000009.12:99003464:A:C Identity +NM_178126.4:c.767A>G NP_835227.1:p.Asn256Ser NC_000017.11:42583540:T:C p.(Asn256Ser) NC_000017.11:42583540:T:C p.(Asn256Ser) NC_000017.11:42583540:T:C Identity +NM_001303472.2:c.1624A>G NP_001290401.1:p.Thr542Ala NC_000020.11:10055519:A:G p.(Thr542Ala) NC_000020.11:10055519:A:G p.(Thr542Ala) NC_000020.11:10055519:A:G Identity +NM_014481.4:c.479C>T NP_055296.2:p.Ala160Val NC_000023.11:55003017:C:T p.(Ala160Val) NC_000023.11:55003017:C:T p.(Ala160Val) NC_000023.11:55003017:C:T Identity +NM_007039.4:c.1847C>G NP_008970.2:p.Ser616Trp NC_000014.9:88479583:G:C p.(Ser616Trp) NC_000014.9:88479583:G:C p.(Ser616Trp) NC_000014.9:88479583:G:C Identity +NM_001324159.2:c.821G>A NP_001311088.1:p.Arg274His NC_000016.10:67987671:C:T p.(Arg274His) NC_000016.10:67987671:C:T p.(Arg274His) NC_000016.10:67987671:C:T Identity +NM_001244713.1:c.176T>G NP_001231642.1:p.Val59Gly NC_000009.12:107306388:T:G p.(Val59Gly) NC_000009.12:107306388:T:G p.(Val59Gly) NC_000009.12:107306388:T:G Identity +NM_001004705.2:c.620C>A NP_001004705.1:p.Thr207Asn NC_000011.10:59478048:C:A p.(Thr207Asn) NC_000011.10:59478048:C:A p.(Thr207Asn) NC_000011.10:59478048:C:A Identity +NM_001322080.2:c.868C>A NP_001309009.1:p.Gln290Lys NC_000002.12:102718793:G:T p.(Gln290Lys) NC_000002.12:102718793:G:T p.(Gln290Lys) NC_000002.12:102718793:G:T Identity +NM_001308162.3:c.19G>C NP_001295091.1:p.Asp7His NC_000002.12:230327287:G:C p.(Asp7His) NC_000002.12:230327287:G:C p.(Asp7His) NC_000002.12:230327287:G:C Identity +NM_024529.5:c.1043G>T NP_078805.3:p.Arg348Ile NC_000001.11:193212076:G:T p.(Arg348Ile) NC_000001.11:193212076:G:T p.(Arg348Ile) NC_000001.11:193212076:G:T Identity +NM_001134473.3:c.1600C>A NP_001127945.1:p.Pro534Thr NC_000016.10:85661416:C:A p.(Pro534Thr) NC_000016.10:85661416:C:A p.(Pro534Thr) NC_000016.10:85661416:C:A Identity +NM_032152.5:c.1397T>C NP_115528.4:p.Met466Thr NC_000019.10:8498410:A:G p.(Met466Thr) NC_000019.10:8498410:A:G p.(Met466Thr) NC_000019.10:8498410:A:G Identity +NM_018920.4:c.2281G>A NP_061743.1:p.Ala761Thr NC_000005.10:141385179:G:A p.(Ala761Thr) NC_000005.10:141385179:G:A p.(Ala761Thr) NC_000005.10:141385179:G:A Identity +NM_001135865.3:c.1894G>A NP_001129337.1:p.Val632Ile NC_000016.10:22534876:G:A p.(Val632Ile) NC_000016.10:22534876:G:A p.(Val632Ile) NC_000016.10:22534876:G:A Identity +NM_033061.4:c.76C>T NP_149050.3:p.Arg26Cys NC_000017.11:41084281:C:T p.(Arg26Cys) NC_000017.11:41084281:C:T p.(Arg26Cys) NC_000017.11:41084281:C:T Identity +NM_145798.3:c.1654G>A NP_665741.1:p.Gly552Ser NC_000017.11:47813348:C:T p.(Gly552Ser) NC_000017.11:47813348:C:T p.(Gly552Ser) NC_000017.11:47813348:C:T Identity +NM_001321522.2:c.406A>G NP_001308451.1:p.Ile136Val NC_000019.10:53351080:A:G p.(Ile136Val) NC_000019.10:53351080:A:G p.(Ile136Val) NC_000019.10:53351080:A:G Identity +NM_001144856.2:c.77G>A NP_001138328.1:p.Arg26Gln NC_000012.12:6312302:G:A p.(Arg26Gln) NC_000012.12:6312302:G:A p.(Arg26Gln) NC_000012.12:6312302:G:A Identity +NM_001315507.2:c.1715A>G NP_001302436.2:p.Asn572Ser NC_000008.11:17957331:A:G p.(Asn572Ser) NC_000008.11:17957331:A:G p.(Asn572Ser) NC_000008.11:17957331:A:G Identity +NM_182588.3:c.80C>T NP_872394.2:p.Thr27Met NC_000002.12:107836608:C:T p.(Thr27Met) NC_000002.12:107836608:C:T p.(Thr27Met) NC_000002.12:107836608:C:T Identity +NM_001177676.2:c.698C>G NP_001171147.1:p.Thr233Ser NC_000014.9:91234352:G:C p.(Thr233Ser) NC_000014.9:91234352:G:C p.(Thr233Ser) NC_000014.9:91234352:G:C Identity +NM_052862.4:c.166C>T NP_443094.3:p.Pro56Ser NC_000001.11:167685477:C:T p.(Pro56Ser) NC_000001.11:167685477:C:T p.(Pro56Ser) NC_000001.11:167685477:C:T Identity +NM_001145346.2:c.877G>A NP_001138818.1:p.Asp293Asn NC_000023.11:115190317:G:A p.(Asp293Asn) NC_000023.11:115190317:G:A p.(Asp293Asn) NC_000023.11:115190317:G:A Identity +NM_173651.4:c.2219G>A NP_775922.3:p.Arg740His NC_000002.12:185789354:G:A p.(Arg740His) NC_000002.12:185789354:G:A p.(Arg740His) NC_000002.12:185789354:G:A Identity +NM_033404.2:c.694G>A NP_208383.2:p.Asp232Asn NC_000010.11:133186041:G:A ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.2 not found +NM_001199160.2:c.710G>A NP_001186089.1:p.Arg237Gln NC_000003.12:49117257:C:T p.(Arg237Gln) NC_000003.12:49117257:C:T p.(Arg237Gln) NC_000003.12:49117257:C:T Identity +NM_207414.3:c.2671C>T NP_997297.2:p.Arg891Trp NC_000008.11:141448054:G:A p.(Arg891Trp) NW_025791786.1:114608:G:A p.(Arg891Trp) NC_000008.11:114608:T:A Identity +NM_001105521.4:c.626G>A NP_001098991.1:p.Arg209His NC_000010.11:132117566:G:A p.(Arg209His) NC_000010.11:132117566:G:A p.(Arg209His) NC_000010.11:132117566:G:A Identity +NM_022131.3:c.2267A>G NP_071414.2:p.Asn756Ser NC_000003.12:140562864:A:G p.(Asn756Ser) NC_000003.12:140562864:A:G p.(Asn756Ser) NC_000003.12:140562864:A:G Identity +NM_020715.3:c.292G>A NP_065766.1:p.Gly98Ser NC_000014.9:67557370:G:A p.(Gly98Ser) NC_000014.9:67557370:G:A p.(Gly98Ser) NC_000014.9:67557370:G:A Identity +NM_001010886.5:c.316C>T NP_001010886.1:p.Arg106Cys NC_000006.12:35787959:C:T p.(Arg106Cys) NC_000006.12:35787959:C:T p.(Arg106Cys) NC_000006.12:35787959:C:T Identity +NM_033396.3:c.2204C>T NP_203754.2:p.Thr735Ile NC_000011.10:57310506:G:A p.(Thr735Ile) NC_000011.10:57310506:G:A p.(Thr735Ile) NC_000011.10:57310506:G:A Identity +NM_001288821.2:c.436T>G NP_001275750.1:p.Leu146Val NC_000001.11:101825241:A:C p.(Leu146Val) NC_000001.11:101825241:A:C p.(Leu146Val) NC_000001.11:101825241:A:C Identity +NM_001199022.3:c.43A>G NP_001185951.2:p.Ile15Val NC_000016.10:19527923:A:G p.(Ile15Val) NC_000016.10:19527923:A:G p.(Ile15Val) NC_000016.10:19527923:A:G Identity +NM_001114089.4:c.256G>A NP_001107561.2:p.Gly86Arg NC_000020.11:25207327:G:A p.(Gly86Arg) NC_000020.11:25207327:G:A p.(Gly86Arg) NC_000020.11:25207327:G:A Identity +NM_001270411.2:c.594C>G NP_001257340.2:p.Phe198Leu NC_000022.11:38989480:C:G p.(Phe198Leu) NC_000022.11:38989480:C:G p.(Phe198Leu) NC_000022.11:38989480:C:G Identity +NM_020719.3:c.4460C>T NP_065770.1:p.Pro1487Leu NC_000019.10:49601604:C:T p.(Pro1487Leu) NC_000019.10:49601604:C:T p.(Pro1487Leu) NC_000019.10:49601604:C:T Identity +NM_002016.2:c.2440A>G NP_002007.1:p.Thr814Ala NC_000001.11:152312445:T:C p.(Thr814Ala) NC_000001.11:152312445:T:C p.(Thr814Ala) NC_000001.11:152312445:T:C Identity +NM_178862.3:c.721G>A NP_849193.1:p.Val241Ile NC_000003.12:31596806:G:A p.(Val241Ile) NC_000003.12:31596806:G:A p.(Val241Ile) NC_000003.12:31596806:G:A Identity +NM_014649.3:c.2186G>A NP_055464.1:p.Arg729Gln NC_000019.10:5593911:C:T p.(Arg729Gln) NC_000019.10:5593911:C:T p.(Arg729Gln) NC_000019.10:5593911:C:T Identity +NM_001410746.1:c.1442A>C NP_001397675.1:p.Lys481Thr NC_000003.12:42659712:A:C p.(Lys481Thr) NC_000003.12:42659712:A:C p.(Lys481Thr) NC_000003.12:42659712:A:C Identity +NM_004386.3:c.89C>A NP_004377.2:p.Thr30Asn NC_000019.10:19218929:C:A p.(Thr30Asn) NC_000019.10:19218929:C:A p.(Thr30Asn) NC_000019.10:19218929:C:A Identity +NM_207363.3:c.2284A>G NP_997246.2:p.Arg762Gly NC_000002.12:132784526:T:C p.(Arg762Gly) NC_000002.12:132784526:T:C p.(Arg762Gly) NC_000002.12:132784526:T:C Identity +NM_181536.2:c.871G>A NP_853514.1:p.Val291Ile NC_000016.10:71984130:C:T p.(Val291Ile) NC_000016.10:71984130:C:T p.(Val291Ile) NC_000016.10:71984130:C:T Identity +NM_001031728.1:c.781C>T NP_001026898.1:p.Arg261Trp NC_000009.12:35662633:G:A ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found ERR:AlignmentMapper(tx_ac=NM_001031728.1, alt_ac=NM_001031728.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031728.1, alt_ac=NM_001031728.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found +NM_001324139.2:c.1862A>G NP_001311068.1:p.Asn621Ser NC_000023.11:47447649:T:C p.(Asn621Ser) NC_000023.11:47447649:T:C p.(Asn621Ser) NC_000023.11:47447649:T:C Identity +NM_001284417.2:c.553A>G NP_001271346.1:p.Ile185Val NC_000015.10:99729460:T:C p.(Ile185Val) NC_000015.10:99729460:T:C p.(Ile185Val) NC_000015.10:99729460:T:C Identity +NM_001013746.3:c.1817A>C NP_001013768.1:p.Lys606Thr NC_000007.14:64708120:A:C p.(Lys606Thr) NC_000007.14:64708120:A:C p.(Lys606Thr) NC_000007.14:64708120:A:C Identity +NM_133467.3:c.53C>G NP_597724.1:p.Pro18Arg NC_000001.11:40862074:G:C p.(Pro18Arg) NC_000001.11:40862074:G:C p.(Pro18Arg) NC_000001.11:40862074:G:C Identity +NM_001130142.2:c.1793C>T NP_001123614.1:p.Pro598Leu NC_000011.10:124137181:C:T p.(Pro598Leu) NC_000011.10:124137181:C:T p.(Pro598Leu) NC_000011.10:124137181:C:T Identity +NM_001286779.2:c.2907C>G NP_001273708.1:p.Ser969Arg NC_000009.12:127393184:C:G p.(Ser969Arg) NC_000009.12:127393184:C:G p.(Ser969Arg) NC_000009.12:127393184:C:G Identity +NM_001002877.2:c.1324T>A NP_001002877.1:p.Leu442Met NC_000022.11:29520057:A:T p.(Leu442Met) NC_000022.11:29520057:A:T p.(Leu442Met) NC_000022.11:29520057:A:T Identity +NM_001387214.1:c.1253G>A NP_001374143.1:p.Arg418Gln NC_000015.10:29123570:C:T p.(Arg418Gln) NC_000015.10:29123570:C:T p.(Arg418Gln) NC_000015.10:29123570:C:T Identity +NM_001720.5:c.214T>A NP_001711.2:p.Ser72Thr NC_000001.11:39788271:A:T p.(Ser72Thr) NC_000001.11:39788271:A:T p.(Ser72Thr) NC_000001.11:39788271:A:T Identity +NM_001367447.1:c.4355G>A NP_001354376.1:p.Ser1452Asn NC_000010.11:24585903:C:T p.(Ser1452Asn) NC_000010.11:24585903:C:T p.(Ser1452Asn) NC_000010.11:24585903:C:T Identity +NM_001128324.2:c.574G>C NP_001121796.1:p.Gly192Arg NC_000010.11:45639958:C:G p.(Gly192Arg) NC_000010.11:45639958:C:G p.(Gly192Arg) NC_000010.11:45639958:C:G Identity +NM_001013736.3:c.617C>T NP_001013758.1:p.Pro206Leu NC_000023.11:37009026:C:T p.(Pro206Leu) NC_000023.11:37009026:C:T p.(Pro206Leu) NC_000023.11:37009026:C:T Identity +NM_001305002.2:c.1229C>A NP_001291931.1:p.Ser410Tyr NC_000016.10:47162549:G:T p.(Ser410Tyr) NC_000016.10:47162549:G:T p.(Ser410Tyr) NC_000016.10:47162549:G:T Identity +NM_001204747.2:c.2383A>T NP_001191676.1:p.Ile795Phe NC_000004.12:39302555:T:A p.(Ile795Phe) NC_000004.12:39302555:T:A p.(Ile795Phe) NC_000004.12:39302555:T:A Identity +NM_177454.4:c.2336C>T NP_803237.3:p.Ser779Leu NC_000002.12:186762677:C:T p.(Ser779Leu) NC_000002.12:186762677:C:T p.(Ser779Leu) NC_000002.12:186762677:C:T Identity +NM_001286349.2:c.1936G>A NP_001273278.1:p.Gly646Ser NC_000001.11:158095081:G:A p.(Gly646Ser) NC_000001.11:158095081:G:A p.(Gly646Ser) NC_000001.11:158095081:G:A Identity +NM_001190811.2:c.608A>G NP_001177740.1:p.Gln203Arg NC_000003.12:16595335:T:C p.(Gln203Arg) NC_000003.12:16595335:T:C p.(Gln203Arg) NC_000003.12:16595335:T:C Identity +NM_001251962.2:c.2344G>A NP_001238891.1:p.Gly782Arg NC_000003.12:154253158:G:A p.(Gly782Arg) NC_000003.12:154253158:G:A p.(Gly782Arg) NC_000003.12:154253158:G:A Identity +NM_153487.4:c.2194A>G NP_705691.1:p.Met732Val NC_000006.12:37646227:T:C p.(Met732Val) NC_000006.12:37646227:T:C p.(Met732Val) NC_000006.12:37646227:T:C Identity +NM_018915.4:c.1430A>G NP_061738.1:p.His477Arg NC_000005.10:141340400:A:G p.(His477Arg) NC_000005.10:141340400:A:G p.(His477Arg) NC_000005.10:141340400:A:G Identity +NM_207360.3:c.421C>T NP_997243.2:p.Pro141Ser NC_000006.12:149461854:G:A p.(Pro141Ser) NC_000006.12:149461854:G:A p.(Pro141Ser) NC_000006.12:149461854:G:A Identity +NM_024578.3:c.53T>G NP_078854.1:p.Leu18Arg NC_000019.10:17226299:T:G p.(Leu18Arg) NC_000019.10:17226299:T:G p.(Leu18Arg) NC_000019.10:17226299:T:G Identity +NM_001244937.3:c.3767G>A NP_001231866.1:p.Arg1256His NC_000003.12:49889956:C:T p.(Arg1256His) NC_000003.12:49889956:C:T p.(Arg1256His) NC_000003.12:49889956:C:T Identity +NM_001172779.2:c.1259T>C NP_001166250.1:p.Val420Ala NC_000003.12:169793770:A:G p.(Val420Ala) NC_000003.12:169793770:A:G p.(Val420Ala) NC_000003.12:169793770:A:G Identity +NM_001083116.3:c.1165C>T NP_001076585.1:p.Pro389Ser NC_000010.11:70598555:G:A p.(Pro389Ser) NC_000010.11:70598555:G:A p.(Pro389Ser) NC_000010.11:70598555:G:A Identity +NM_003817.4:c.2050G>A NP_003808.2:p.Gly684Arg NC_000008.11:24500836:G:A p.(Gly684Arg) NC_000008.11:24500836:G:A p.(Gly684Arg) NC_000008.11:24500836:G:A Identity +NM_001300761.4:c.430G>T NP_001287690.1:p.Asp144Tyr NC_000004.12:146909073:C:A p.(Asp144Tyr) NC_000004.12:146909073:C:A p.(Asp144Tyr) NC_000004.12:146909073:C:A Identity +NM_001385116.1:c.5579A>G NP_001372045.1:p.Lys1860Arg NC_000014.9:88618281:T:C p.(Lys1860Arg) NC_000014.9:88618281:T:C p.(Lys1860Arg) NC_000014.9:88618281:T:C Identity +NM_001330167.2:c.814C>T NP_001317096.1:p.His272Tyr NC_000010.11:118039422:G:A p.(His272Tyr) NC_000010.11:118039422:G:A p.(His272Tyr) NC_000010.11:118039422:G:A Identity +NM_005555.4:c.350G>A NP_005546.2:p.Gly117Asp NC_000012.12:52451728:C:T p.(Gly117Asp) NC_000012.12:52451728:C:T p.(Gly117Asp) NC_000012.12:52451728:C:T Identity +NM_001193379.2:c.119G>A NP_001180308.1:p.Arg40His NC_000020.11:63946592:C:T p.(Arg40His) NC_000020.11:63946592:C:T p.(Arg40His) NC_000020.11:63946592:C:T Identity +NM_004225.3:c.2643G>T NP_004216.2:p.Gln881His NC_000008.11:8890415:C:A p.(Gln881His) NC_000008.11:8890415:C:A p.(Gln881His) NC_000008.11:8890415:C:A Identity +NM_001242739.2:c.43T>C NP_001229668.1:p.Phe15Leu NC_000001.11:42849700:T:C p.(Phe15Leu) NC_000001.11:42849700:T:C p.(Phe15Leu) NC_000001.11:42849700:T:C Identity +NM_144999.4:c.481G>A NP_659436.1:p.Ala161Thr NC_000017.11:82025126:G:A p.(Ala161Thr) NC_000017.11:82025126:G:A p.(Ala161Thr) NC_000017.11:82025126:G:A Identity +NM_001144932.3:c.206A>G NP_001138404.1:p.His69Arg NC_000014.9:23033666:T:C p.(His69Arg) NC_000014.9:23033666:T:C p.(His69Arg) NC_000014.9:23033666:T:C Identity +NM_001260492.2:c.1109G>A NP_001247421.1:p.Arg370Gln NC_000011.10:110237633:C:T p.(Arg370Gln) NC_000011.10:110237633:C:T p.(Arg370Gln) NC_000011.10:110237633:C:T Identity +NM_001286238.2:c.922C>A NP_001273167.1:p.Pro308Thr NC_000001.11:48359757:G:T p.(Pro308Thr) NC_000001.11:48359757:G:T p.(Pro308Thr) NC_000001.11:48359757:G:T Identity +NM_001123395.2:c.148C>A NP_001116867.1:p.Leu50Ile NC_000001.11:42739915:G:T p.(Leu50Ile) NC_000001.11:42739915:G:T p.(Leu50Ile) NC_000001.11:42739915:G:T Identity +NM_001080483.3:c.506T>G NP_001073952.1:p.Phe169Cys NC_000009.12:133515500:A:C p.(Phe169Cys) NC_000009.12:133515500:A:C p.(Phe169Cys) NC_000009.12:133515500:A:C Identity +NM_001165031.2:c.85G>T NP_001158503.1:p.Ala29Ser NC_000002.12:241686698:C:A p.(Ala29Ser) NC_000002.12:241686698:C:A p.(Ala29Ser) NC_000002.12:241686698:C:A Identity +NM_003128.3:c.6959C>T NP_003119.2:p.Thr2320Met NC_000002.12:54668432:C:T p.(Thr2320Met) NC_000002.12:54668432:C:T p.(Thr2320Met) NC_000002.12:54668432:C:T Identity +NM_022054.4:c.1066A>G NP_071337.2:p.Asn356Asp NC_000014.9:90184841:A:G p.(Asn356Asp) NC_000014.9:90184841:A:G p.(Asn356Asp) NC_000014.9:90184841:A:G Identity +NM_001004482.1:c.769C>T NP_001004482.1:p.Leu257Phe NC_000009.12:104598644:G:A p.(Leu257Phe) NC_000009.12:104598644:G:A p.(Leu257Phe) NC_000009.12:104598644:G:A Identity +NM_001128608.2:c.2387C>G NP_001122080.1:p.Thr796Ser NC_000015.10:41819322:C:G p.(Thr796Ser) NC_000015.10:41819322:C:G p.(Thr796Ser) NC_000015.10:41819322:C:G Identity +NM_001164766.2:c.8090A>T NP_001158238.1:p.His2697Leu NC_000016.10:72787443:T:A p.(His2697Leu) NC_000016.10:72787443:T:A p.(His2697Leu) NC_000016.10:72787443:T:A Identity +NM_001077445.3:c.1852G>C NP_001070913.1:p.Glu618Gln NC_000023.11:47058456:G:C p.(Glu618Gln) NC_000023.11:47058456:G:C p.(Glu618Gln) NC_000023.11:47058456:G:C Identity +NM_001164463.1:c.4412C>A NP_001157935.1:p.Ser1471Tyr NC_000002.12:112388532:G:T p.(Ser1471Tyr) NC_000002.12:112388532:G:T p.(Ser1471Tyr) NC_000002.12:112388532:G:T Identity +NM_004996.4:c.1356C>G NP_004987.2:p.Ile452Met NC_000016.10:16048278:C:G p.(Ile452Met) NC_000016.10:16048278:C:G p.(Ile452Met) NC_000016.10:16048278:C:G Identity +NM_002282.3:c.242C>A NP_002273.3:p.Pro81Gln NC_000012.12:52321093:G:T p.(Pro81Gln) NC_000012.12:52321093:G:T p.(Pro81Gln) NC_000012.12:52321093:G:T Identity +NM_001300949.2:c.470C>G NP_001287878.1:p.Ala157Gly NC_000019.10:19679818:C:G p.(Ala157Gly) NC_000019.10:19679818:C:G p.(Ala157Gly) NC_000019.10:19679818:C:G Identity +NM_001001821.1:c.437G>T NP_001001821.1:p.Cys146Phe NC_000001.11:248574320:C:A p.(Cys146Phe) NC_000001.11:248574320:C:A p.(Cys146Phe) NC_000001.11:248574320:C:A Identity +NM_018285.4:c.461T>C NP_060755.1:p.Met154Thr NC_000015.10:75639707:A:G p.(Met154Thr) NC_000015.10:75639707:A:G p.(Met154Thr) NC_000015.10:75639707:A:G Identity +NM_033225.6:c.6671C>T NP_150094.5:p.Thr2224Met NC_000008.11:3108685:G:A p.(Thr2224Met) NC_000008.11:3108685:G:A p.(Thr2224Met) NC_000008.11:3108685:G:A Identity +NM_001330337.1:c.629T>C NP_001317266.1:p.Leu210Pro NC_000002.12:113471040:T:C p.(Leu210Pro) NC_000002.12:113471040:T:C p.(Leu210Pro) NC_000002.12:113471040:T:C Identity +NM_001184723.2:c.136T>C NP_001171652.1:p.Tyr46His NC_000003.12:149333246:A:G p.(Tyr46His) NC_000003.12:149333246:A:G p.(Tyr46His) NC_000003.12:149333246:A:G Identity +NM_207363.3:c.22G>A NP_997246.2:p.Glu8Lys NC_000002.12:133517504:C:T p.(Glu8Lys) NC_000002.12:133517504:C:T p.(Glu8Lys) NC_000002.12:133517504:C:T Identity +NM_001304389.2:c.220A>G NP_001291318.1:p.Ile74Val NC_000003.12:54924774:T:C p.(Ile74Val) NC_000003.12:54924774:T:C p.(Ile74Val) NC_000003.12:54924774:T:C Identity +NM_001040667.3:c.157C>T NP_001035757.1:p.Arg53Cys NC_000016.10:67165554:C:T p.(Arg53Cys) NC_000016.10:67165554:C:T p.(Arg53Cys) NC_000016.10:67165554:C:T Identity +NM_015086.2:c.535G>A NP_055901.2:p.Ala179Thr NC_000012.12:48998340:C:T p.(Ala179Thr) NC_000012.12:48998340:C:T p.(Ala179Thr) NC_000012.12:48998340:C:T Identity +NM_152462.2:c.946G>T NP_689675.1:p.Val316Leu NC_000017.11:35193361:C:A p.(Val316Leu) NC_000017.11:35193361:C:A p.(Val316Leu) NC_000017.11:35193361:C:A Identity +NM_001291446.2:c.1303A>G NP_001278375.1:p.Thr435Ala NC_000014.9:21524019:T:C p.(Thr435Ala) NC_000014.9:21524019:T:C p.(Thr435Ala) NC_000014.9:21524019:T:C Identity +NM_022156.5:c.214G>A NP_071439.3:p.Glu72Lys NC_000017.11:82064845:C:T p.(Glu72Lys) NC_000017.11:82064845:C:T p.(Glu72Lys) NC_000017.11:82064845:C:T Identity +NM_001199295.2:c.746G>A NP_001186224.2:p.Arg249His NC_000019.10:57537749:G:A p.(Arg249His) NC_000019.10:57537749:G:A p.(Arg249His) NC_000019.10:57537749:G:A Identity +NM_017754.4:c.2114T>C NP_060224.3:p.Phe705Ser NC_000006.12:34858469:T:C p.(Phe705Ser) NC_000006.12:34858469:T:C p.(Phe705Ser) NC_000006.12:34858469:T:C Identity +NM_001267895.2:c.878C>T NP_001254824.1:p.Thr293Ile NC_000022.11:29233438:C:T p.(Thr293Ile) NC_000022.11:29233438:C:T p.(Thr293Ile) NC_000022.11:29233438:C:T Identity +NM_001323005.2:c.851G>A NP_001309934.1:p.Arg284Gln NC_000006.12:108447256:G:A p.(Arg284Gln) NC_000006.12:108447256:G:A p.(Arg284Gln) NC_000006.12:108447256:G:A Identity +NM_017789.5:c.1573C>T NP_060259.4:p.Arg525Cys NC_000002.12:96861764:G:A p.(Arg525Cys) NC_000002.12:96861764:G:A p.(Arg525Cys) NC_000002.12:96861764:G:A Identity +NM_152744.4:c.16C>T NP_689957.3:p.Arg6Trp NC_000007.14:3301601:C:T p.(Arg6Trp) NC_000007.14:3301601:C:T p.(Arg6Trp) NC_000007.14:3301601:C:T Identity +NM_001320714.2:c.2163C>A NP_001307643.1:p.Ser721Arg NC_000021.9:36230946:C:A p.(Ser721Arg) NC_000021.9:36230946:C:A p.(Ser721Arg) NC_000021.9:36230946:C:A Identity +NM_014400.3:c.320A>G NP_055215.2:p.Gln107Arg NC_000019.10:43463660:T:C p.(Gln107Arg) NC_000019.10:43463660:T:C p.(Gln107Arg) NC_000019.10:43463660:T:C Identity +NM_001411012.1:c.8153A>G NP_001397941.1:p.Gln2718Arg NC_000013.11:32274848:A:G p.(Gln2718Arg) NC_000013.11:32274848:A:G p.(Gln2718Arg) NC_000013.11:32274848:A:G Identity +NM_001288803.1:c.149G>A NP_001275732.1:p.Arg50His NC_000009.12:127804294:G:A p.(Arg50His) NC_000009.12:127804294:G:A p.(Arg50His) NC_000009.12:127804294:G:A Identity +NM_001200016.2:c.829C>T NP_001186945.1:p.Arg277Cys NC_000003.12:50296634:G:A p.(Arg277Cys) NC_000003.12:50296634:G:A p.(Arg277Cys) NC_000003.12:50296634:G:A Identity +NM_053054.4:c.884G>A NP_444282.3:p.Arg295Gln NC_000011.10:66025495:C:T p.(Arg295Gln) NC_000011.10:66025495:C:T p.(Arg295Gln) NC_000011.10:66025495:C:T Identity +NM_001190799.2:c.1387T>C NP_001177728.1:p.Tyr463His NC_000004.12:127889888:T:C p.(Tyr463His) NC_000004.12:127889888:T:C p.(Tyr463His) NC_000004.12:127889888:T:C Identity +NM_005958.4:c.13G>C NP_005949.1:p.Gly5Arg NC_000004.12:186555352:C:G p.(Gly5Arg) NC_000004.12:186555352:C:G p.(Gly5Arg) NC_000004.12:186555352:C:G Identity +NM_031454.2:c.503G>A NP_113642.1:p.Gly168Asp NC_000022.11:50201538:G:A p.(Gly168Asp) NC_000022.11:50201538:G:A p.? NC_000022.11:50201538:G:A Identity +NM_002889.4:c.133T>A NP_002880.1:p.Trp45Arg NC_000007.14:150340476:A:T p.(Trp45Arg) NC_000007.14:150340476:A:T p.(Trp45Arg) NC_000007.14:150340476:A:T Identity +NM_001142397.2:c.484G>A NP_001135869.1:p.Glu162Lys NC_000018.10:48670720:G:A p.(Glu162Lys) NC_000018.10:48670720:G:A p.(Glu162Lys) NC_000018.10:48670720:G:A Identity +NM_001308025.1:c.4661G>A NP_001294954.1:p.Ser1554Asn NC_000015.10:89624973:G:A p.(Ser1554Asn) NC_000015.10:89624973:G:A p.(Ser1554Asn) NC_000015.10:89624973:G:A Identity +NM_153606.4:c.1699G>A NP_705834.2:p.Glu567Lys NC_000001.11:212626575:G:A p.(Glu567Lys) NC_000001.11:212626575:G:A p.(Glu567Lys) NC_000001.11:212626575:G:A Identity +NM_001394807.1:c.116G>A NP_001381736.1:p.Arg39His NC_000013.11:113453321:C:T p.(Arg39His) NC_000013.11:113453321:C:T p.(Arg39His) NC_000013.11:113453321:C:T Identity +NM_021228.3:c.109C>G NP_067051.2:p.Arg37Gly NC_000019.10:49645353:C:G p.(Arg37Gly) NC_000019.10:49645353:C:G p.(Arg37Gly) NC_000019.10:49645353:C:G Identity +NM_001300754.2:c.1102G>A NP_001287683.1:p.Val368Ile NC_000004.12:103028865:C:T p.(Val368Ile) NC_000004.12:103028865:C:T p.(Val368Ile) NC_000004.12:103028865:C:T Identity +NM_198317.3:c.1684C>T NP_938073.1:p.Pro562Ser NC_000001.11:964513:C:T p.(Pro562Ser) NC_000001.11:964513:C:T p.(Pro562Ser) NC_000001.11:964513:C:T Identity +NM_001079524.2:c.1096C>T NP_001072992.1:p.Leu366Phe NC_000004.12:56453745:C:T p.(Leu366Phe) NC_000004.12:56453745:C:T p.(Leu366Phe) NC_000004.12:56453745:C:T Identity +NM_001111020.3:c.592C>T NP_001104490.1:p.Arg198Cys NC_000019.10:39459927:C:T p.(Arg198Cys) NC_000019.10:39459927:C:T p.(Arg198Cys) NC_000019.10:39459927:C:T Identity +NM_015360.5:c.172A>C NP_056175.3:p.Asn58His NC_000005.10:55322363:A:C p.(Asn58His) NC_000005.10:55322363:A:C p.(Asn58His) NC_000005.10:55322363:A:C Identity +NM_001085382.2:c.784C>T NP_001078851.1:p.Arg262Cys NC_000004.12:7434095:G:A p.(Arg262Cys) NC_000004.12:7434095:G:A p.(Arg262Cys) NC_000004.12:7434095:G:A Identity +NM_001289080.2:c.1745C>T NP_001276009.1:p.Thr582Ile NC_000003.12:1372913:C:T p.(Thr582Ile) NC_000003.12:1372913:C:T p.(Thr582Ile) NC_000003.12:1372913:C:T Identity +NM_001005173.3:c.344G>T NP_001005173.3:p.Cys115Phe NC_000011.10:5986586:C:A p.(Cys115Phe) NC_000011.10:5986586:C:A p.(Cys115Phe) NC_000011.10:5986586:C:A Identity +NM_001080826.3:c.1156A>T NP_001074295.2:p.Thr386Ser NC_000008.11:8377252:T:A p.(Thr386Ser) NC_000008.11:8377252:T:A p.(Thr386Ser) NC_000008.11:8377252:T:A Identity +NM_001394024.1:c.1176C>A NP_001380953.1:p.Asn392Lys NC_000020.11:42472539:G:T p.(Asn392Lys) NC_000020.11:42472539:G:T p.(Asn392Lys) NC_000020.11:42472539:G:T Identity +NM_001001560.3:c.735C>G NP_001001560.1:p.Ser245Arg NC_000022.11:37623451:C:G p.(Ser245Arg) NC_000022.11:37623451:C:G p.(Ser245Arg) NC_000022.11:37623451:C:G Identity +NM_001162951.4:c.343G>C NP_001156423.1:p.Gly115Arg NC_000011.10:85745682:C:G p.(Gly115Arg) NC_000011.10:85745682:C:G p.(Gly115Arg) NC_000011.10:85745682:C:G Identity +NM_203298.3:c.71A>G NP_976043.1:p.Asn24Ser NC_000010.11:73782145:A:G p.(Asn24Ser) NC_000010.11:73782145:A:G p.(Asn24Ser) NC_000010.11:73782145:A:G Identity +NM_000730.3:c.1034G>A NP_000721.1:p.Arg345His NC_000004.12:26481890:C:T p.(Arg345His) NC_000004.12:26481890:C:T p.(Arg345His) NC_000004.12:26481890:C:T Identity +NM_001206960.2:c.626T>G NP_001193889.1:p.Ile209Ser NC_000003.12:119616020:T:G p.(Ile209Ser) NC_000003.12:119616020:T:G p.(Ile209Ser) NC_000003.12:119616020:T:G Identity +NM_001340.5:c.931G>A NP_001331.1:p.Glu311Lys NC_000009.12:103005561:G:A p.(Glu311Lys) NC_000009.12:103005561:G:A p.(Glu311Lys) NC_000009.12:103005561:G:A Identity +NM_145720.4:c.1096G>A NP_663772.1:p.Val366Ile NC_000004.12:152769908:C:T p.(Val366Ile) NC_000004.12:152769908:C:T p.(Val366Ile) NC_000004.12:152769908:C:T Identity +NM_001199144.2:c.3892T>C NP_001186073.1:p.Ser1298Pro NC_000002.12:167245949:T:C p.(Ser1298Pro) NC_000002.12:167245949:T:C p.(Ser1298Pro) NC_000002.12:167245949:T:C Identity +NM_005735.4:c.536C>G NP_005726.1:p.Ser179Cys NC_000002.12:97658547:G:C p.(Ser179Cys) NC_000002.12:97658547:G:C p.(Ser179Cys) NC_000002.12:97658547:G:C Identity +NM_001362950.1:c.2627T>C NP_001349879.1:p.Ile876Thr NC_000002.12:24726615:T:C p.(Ile876Thr) NC_000002.12:24726615:T:C p.(Ile876Thr) NC_000002.12:24726615:T:C Identity +NM_001012454.6:c.654G>T NP_001012457.3:p.Glu218Asp NC_000007.14:128680068:G:T p.(Glu218Asp) NC_000007.14:128680068:G:T p.(Glu218Asp) NC_000007.14:128680068:G:T Identity +NM_005346.6:c.1900G>A NP_005337.2:p.Gly634Ser NC_000006.12:31829849:G:A p.(Gly634Ser) NC_000006.12:31829849:G:A p.(Gly634Ser) NC_000006.12:31829849:G:A Identity +NM_006842.3:c.1048C>T NP_006833.2:p.Arg350Trp NC_000011.10:66058910:C:T p.(Arg350Trp) NC_000011.10:66058910:C:T p.(Arg350Trp) NC_000011.10:66058910:C:T Identity +NM_080870.4:c.1514C>A NP_543146.2:p.Thr505Asn NC_000006.12:30949977:C:A p.(Thr505Asn) NC_000006.12:30949977:C:A p.(Thr505Asn) NC_000006.12:30949977:C:A Identity +NM_022662.4:c.341A>G NP_073153.1:p.Tyr114Cys NC_000002.12:111878843:T:C p.(Tyr114Cys) NC_000002.12:111878843:T:C p.(Tyr114Cys) NC_000002.12:111878843:T:C Identity +NM_001013355.2:c.575C>T NP_001013373.1:p.Thr192Met NC_000001.11:248522220:C:T p.(Thr192Met) NC_000001.11:248522220:C:T p.(Thr192Met) NC_000001.11:248522220:C:T Identity +NM_030622.8:c.197C>T NP_085125.1:p.Pro66Leu NC_000019.10:41194562:C:T p.(Pro66Leu) NC_000019.10:41194562:C:T p.(Pro66Leu) NC_000019.10:41194562:C:T Identity +NM_001282857.2:c.3359T>C NP_001269786.1:p.Val1120Ala NC_000003.12:142365081:A:G p.(Val1120Ala) NC_000003.12:142365081:A:G p.(Val1120Ala) NC_000003.12:142365081:A:G Identity +NM_001278616.2:c.1921A>G NP_001265545.1:p.Ser641Gly NC_000002.12:110650767:T:C p.(Ser641Gly) NC_000002.12:110650767:T:C p.(Ser641Gly) NC_000002.12:110650767:T:C Identity +NM_001317734.2:c.95C>T NP_001304663.1:p.Thr32Met NC_000001.11:154951531:G:A p.(Thr32Met) NC_000001.11:154951531:G:A p.(Thr32Met) NC_000001.11:154951531:G:A Identity +NM_001039548.3:c.564C>G NP_001034637.2:p.His188Gln NC_000011.10:75430065:G:C p.(His188Gln) NC_000011.10:75430065:G:C p.(His188Gln) NC_000011.10:75430065:G:C Identity +NM_001009606.4:c.844G>A NP_001009606.3:p.Ala282Thr NC_000016.10:1911774:C:T p.(Ala282Thr) NC_000016.10:1911774:C:T p.(Ala282Thr) NC_000016.10:1911774:C:T Identity +NM_001378761.1:c.2831C>T NP_001365690.1:p.Thr944Met NC_000011.10:121127850:C:T p.(Thr944Met) NC_000011.10:121127850:C:T p.(Thr944Met) NC_000011.10:121127850:C:T Identity +NM_001105538.2:c.553C>G NP_001099008.1:p.Leu185Val NC_000017.11:4553817:G:C p.(Leu185Val) NC_000017.11:4553817:G:C p.(Leu185Val) NC_000017.11:4553817:G:C Identity +NM_032221.5:c.4094G>A NP_115597.3:p.Gly1365Asp NC_000020.11:41426127:C:T p.(Gly1365Asp) NC_000020.11:41426127:C:T p.(Gly1365Asp) NC_000020.11:41426127:C:T Identity +NM_019070.5:c.1031G>A NP_061943.2:p.Arg344Gln NC_000019.10:18926305:G:A p.(Arg344Gln) NC_000019.10:18926305:G:A p.(Arg344Gln) NC_000019.10:18926305:G:A Identity +NM_001142610.2:c.1854C>A NP_001136082.1:p.Asn618Lys NC_000017.11:19796237:G:T p.(Asn618Lys) NC_000017.11:19796237:G:T p.(Asn618Lys) NC_000017.11:19796237:G:T Identity +NM_001289010.2:c.1472G>A NP_001275939.1:p.Arg491His NC_000001.11:25778318:G:A p.(Arg491His) NC_000001.11:25778318:G:A p.(Arg491His) NC_000001.11:25778318:G:A Identity +NM_001136265.2:c.1087C>T NP_001129737.1:p.Arg363Cys NC_000001.11:18916918:G:A p.(Arg363Cys) NC_000001.11:18916918:G:A p.(Arg363Cys) NC_000001.11:18916918:G:A Identity +NM_001130675.2:c.1808G>A NP_001124147.1:p.Arg603His NC_000004.12:140389248:C:T p.(Arg603His) NC_000004.12:140389248:C:T p.(Arg603His) NC_000004.12:140389248:C:T Identity +NM_014344.4:c.1105G>A NP_055159.2:p.Glu369Lys NC_000011.10:35619740:G:A p.(Glu369Lys) NC_000011.10:35619740:G:A p.(Glu369Lys) NC_000011.10:35619740:G:A Identity +NM_002318.3:c.2077A>G NP_002309.1:p.Ile693Val NC_000008.11:23302082:T:C p.(Ile693Val) NC_000008.11:23302082:T:C p.(Ile693Val) NC_000008.11:23302082:T:C Identity +NM_001525.3:c.1258G>A NP_001516.2:p.Val420Ile NC_000001.11:31626959:G:A p.(Val420Ile) NC_000001.11:31626959:G:A p.(Val420Ile) NC_000001.11:31626959:G:A Identity +NM_000865.3:c.611G>A NP_000856.1:p.Arg204Gln NC_000006.12:87015944:G:A p.(Arg204Gln) NC_000006.12:87015944:G:A p.(Arg204Gln) NC_000006.12:87015944:G:A Identity +NM_001109997.3:c.634G>A NP_001103467.2:p.Val212Ile NC_000014.9:20430041:C:T p.(Val212Ile) NC_000014.9:20430041:C:T p.(Val212Ile) NC_000014.9:20430041:C:T Identity +NM_001301275.2:c.371A>G NP_001288204.1:p.Glu124Gly NC_000009.12:94300501:A:G p.(Glu124Gly) NC_000009.12:94300501:A:G p.(Glu124Gly) NC_000009.12:94300501:A:G Identity +NM_001167604.2:c.849C>A NP_001161076.1:p.Asp283Glu NC_000010.11:109882623:G:T p.(Asp283Glu) NC_000010.11:109882623:G:T p.(Asp283Glu) NC_000010.11:109882623:G:T Identity +NM_019086.6:c.956A>G NP_061959.2:p.Lys319Arg NC_000012.12:118073961:T:C p.(Lys319Arg) NC_000012.12:118073961:T:C p.(Lys319Arg) NC_000012.12:118073961:T:C Identity +NM_014398.4:c.544G>A NP_055213.2:p.Gly182Ser NC_000003.12:183153896:C:T p.(Gly182Ser) NC_000003.12:183153896:C:T p.(Gly182Ser) NC_000003.12:183153896:C:T Identity +NM_153610.5:c.7916C>T NP_705838.3:p.Ala2639Val NC_000005.10:79736680:C:T p.(Ala2639Val) NC_000005.10:79736680:C:T p.(Ala2639Val) NC_000005.10:79736680:C:T Identity +NM_021090.4:c.2556T>G NP_066576.1:p.Asp852Glu NC_000022.11:30020214:T:G p.(Asp852Glu) NC_000022.11:30020214:T:G p.(Asp852Glu) NC_000022.11:30020214:T:G Identity +NM_000712.4:c.481C>T NP_000703.2:p.Arg161Trp NC_000007.14:43803695:C:T p.(Arg161Trp) NC_000007.14:43803695:C:T p.(Arg161Trp) NC_000007.14:43803695:C:T Identity +NM_024523.6:c.611C>T NP_078799.2:p.Ala204Val NC_000007.14:127584571:G:A p.(Ala204Val) NC_000007.14:127584571:G:A p.(Ala204Val) NC_000007.14:127584571:G:A Identity +NM_001258033.2:c.233C>T NP_001244962.1:p.Ala78Val NC_000016.10:22308991:C:T p.(Ala78Val) NC_000016.10:22308991:C:T p.(Ala78Val) NC_000016.10:22308991:C:T Identity +NM_001007237.3:c.1678G>A NP_001007238.1:p.Asp560Asn NC_000001.11:116600291:C:T p.(Asp560Asn) NC_000001.11:116600291:C:T p.(Asp560Asn) NC_000001.11:116600291:C:T Identity +NM_001320747.2:c.1783G>C NP_001307676.1:p.Ala595Pro NC_000017.11:76015621:C:G p.(Ala595Pro) NC_000017.11:76015621:C:G p.(Ala595Pro) NC_000017.11:76015621:C:G Identity +NM_001193282.4:c.1438C>T NP_001180211.2:p.Leu480Phe NC_000004.12:2459240:C:T p.(Leu480Phe) NC_000004.12:2459240:C:T p.(Leu480Phe) NC_000004.12:2459240:C:T Identity +NM_001277081.2:c.352A>C NP_001264010.1:p.Asn118His NC_000019.10:50827003:T:G p.(Asn118His) NC_000019.10:50827003:T:G p.(Asn118His) NC_000019.10:50827003:T:G Identity +NM_001037872.3:c.2084G>A NP_001032961.1:p.Arg695His NC_000002.12:99412815:C:T p.(Arg695His) NC_000002.12:99412815:C:T p.(Arg695His) NC_000002.12:99412815:C:T Identity +NM_181538.3:c.73C>T NP_853516.1:p.Leu25Phe NC_000007.14:99929547:G:A p.(Leu25Phe) NC_000007.14:99929547:G:A p.(Leu25Phe) NC_000007.14:99929547:G:A Identity +NM_024098.4:c.926G>A NP_077003.1:p.Arg309His NC_000011.10:60849976:G:A p.(Arg309His) NC_000011.10:60849976:G:A p.(Arg309His) NC_000011.10:60849976:G:A Identity +NM_015720.4:c.1051G>A NP_056535.1:p.Gly351Arg NC_000003.12:127661078:G:A p.(Gly351Arg) NC_000003.12:127661078:G:A p.(Gly351Arg) NC_000003.12:127661078:G:A Identity +NM_001001992.2:c.1623G>A NP_001001992.1:p.Met541Ile NC_000021.9:29046935:G:A p.(Met541Ile) NC_000021.9:29046935:G:A p.(Met541Ile) NC_000021.9:29046935:G:A Identity +NM_001174081.3:c.937C>A NP_001167552.1:p.Pro313Thr NC_000019.10:54982634:C:A p.(Pro313Thr) NC_000019.10:54982634:C:A p.(Pro313Thr) NC_000019.10:54982634:C:A Identity +NM_001170331.2:c.1104G>C NP_001163802.1:p.Arg368Ser NC_000023.11:37675653:G:C p.(Arg368Ser) NC_000023.11:37675653:G:C p.(Arg368Ser) NC_000023.11:37675653:G:C Identity +NM_194312.4:c.59G>A NP_919288.2:p.Arg20Gln NC_000002.12:238100477:G:A p.(Arg20Gln) NC_000002.12:238100477:G:A p.(Arg20Gln) NC_000002.12:238100477:G:A Identity +NM_000128.4:c.788G>T NP_000119.1:p.Gly263Val NC_000004.12:186280043:G:T p.(Gly263Val) NC_000004.12:186280043:G:T p.(Gly263Val) NC_000004.12:186280043:G:T Identity +NM_025195.4:c.184C>T NP_079471.1:p.Pro62Ser NC_000008.11:125431085:C:T p.(Pro62Ser) NC_000008.11:125431085:C:T p.(Pro62Ser) NC_000008.11:125431085:C:T Identity +NM_001314030.2:c.988G>A NP_001300959.1:p.Glu330Lys NC_000012.12:49544360:G:A p.(Glu330Lys) NC_000012.12:49544360:G:A p.(Glu330Lys) NC_000012.12:49544360:G:A Identity +NM_032330.3:c.4T>A NP_115706.1:p.Phe2Ile NC_000016.10:55566759:T:A p.(Phe2Ile) NC_000016.10:55566759:T:A p.(Phe2Ile) NC_000016.10:55566759:T:A Identity +NM_001352169.2:c.418G>A NP_001339098.1:p.Asp140Asn NC_000012.12:104928109:C:T p.(Asp140Asn) NC_000012.12:104928109:C:T p.(Asp140Asn) NC_000012.12:104928109:C:T Identity +NM_001251825.2:c.749C>G NP_001238754.1:p.Pro250Arg NC_000012.12:53382839:C:G p.(Pro250Arg) NC_000012.12:53382839:C:G p.(Pro250Arg) NC_000012.12:53382839:C:G Identity +NM_138690.3:c.176G>A NP_619635.1:p.Arg59Gln NC_000019.10:1000612:G:A p.(Arg59Gln) NC_000019.10:1000612:G:A p.(Arg59Gln) NC_000019.10:1000612:G:A Identity +NM_001290268.2:c.1444A>C NP_001277197.1:p.Ser482Arg NC_000020.11:50602286:T:G p.(Ser482Arg) NC_000020.11:50602286:T:G p.(Ser482Arg) NC_000020.11:50602286:T:G Identity +NM_194318.4:c.1323C>G NP_919299.3:p.Phe441Leu NC_000013.11:31323888:C:G p.(Phe441Leu) NC_000013.11:31323888:C:G p.(Phe441Leu) NC_000013.11:31323888:C:G Identity +NM_001347918.2:c.287G>A NP_001334847.2:p.Arg96Lys NC_000011.10:130915652:C:T p.(Arg96Lys) NC_000011.10:130915652:C:T p.(Arg96Lys) NC_000011.10:130915652:C:T Identity +NM_001142548.2:c.1896C>A NP_001136020.1:p.Phe632Leu NC_000001.11:46277842:C:A p.(Phe632Leu) NC_000001.11:46277842:C:A p.(Phe632Leu) NC_000001.11:46277842:C:A Identity +NM_001109.5:c.1351G>A NP_001100.3:p.Gly451Ser NC_000010.11:133271222:C:T p.(Gly451Ser) NC_000010.11:133271222:C:T p.(Gly451Ser) NC_000010.11:133271222:C:T Identity +NM_001198899.2:c.696T>G NP_001185828.1:p.Asn232Lys NC_000001.11:155668776:A:C p.(Asn232Lys) NC_000001.11:155668776:A:C p.(Asn232Lys) NC_000001.11:155668776:A:C Identity +NM_001352.5:c.446C>T NP_001343.2:p.Ala149Val NC_000019.10:48635683:G:A p.(Ala149Val) NC_000019.10:48635683:G:A p.(Ala149Val) NC_000019.10:48635683:G:A Identity +NM_001314059.2:c.22A>G NP_001300988.1:p.Ile8Val NC_000009.12:96776047:T:C p.(Ile8Val) NC_000009.12:96776047:T:C p.(Ile8Val) NC_000009.12:96776047:T:C Identity +NM_002115.3:c.2554C>T NP_002106.2:p.Arg852Trp NC_000005.10:176881374:G:A p.(Arg852Trp) NC_000005.10:176881374:G:A p.(Arg852Trp) NC_000005.10:176881374:G:A Identity +NM_153834.4:c.8975G>A NP_722576.3:p.Ser2992Asn NC_000023.11:136412303:G:A p.(Ser2992Asn) NC_000023.11:136412303:G:A p.(Ser2992Asn) NC_000023.11:136412303:G:A Identity +NM_001330653.3:c.4199C>G NP_001317582.1:p.Thr1400Ser NC_000009.12:35400404:C:G p.(Thr1400Ser) NC_000009.12:35400404:C:G p.(Thr1400Ser) NC_000009.12:35400404:C:G Identity +NM_001040025.3:c.201G>T NP_001035114.2:p.Trp67Cys NC_000017.11:81683045:C:A p.(Trp67Cys) NC_000017.11:81683045:C:A p.(Trp67Cys) NC_000017.11:81683045:C:A Identity +NM_015325.3:c.2069C>T NP_056140.1:p.Pro690Leu NC_000005.10:5461402:C:T p.(Pro690Leu) NC_000005.10:5461402:C:T p.(Pro690Leu) NC_000005.10:5461402:C:T Identity +NM_001142548.2:c.1288C>G NP_001136020.1:p.Gln430Glu NC_000001.11:46272714:C:G p.(Gln430Glu) NC_000001.11:46272714:C:G p.(Gln430Glu) NC_000001.11:46272714:C:G Identity +NM_145658.4:c.26C>T NP_663633.1:p.Ala9Val NC_000015.10:68930678:C:T p.(Ala9Val) NC_000015.10:68930678:C:T p.(Ala9Val) NC_000015.10:68930678:C:T Identity +NM_024533.5:c.473G>C NP_078809.2:p.Ser158Thr NC_000016.10:75529911:C:G p.(Ser158Thr) NC_000016.10:75529911:C:G p.(Ser158Thr) NC_000016.10:75529911:C:G Identity +NM_001166243.3:c.199A>G NP_001159715.1:p.Thr67Ala NC_000003.12:60014056:T:C p.(Thr67Ala) NC_000003.12:60014056:T:C p.(Thr67Ala) NC_000003.12:60014056:T:C Identity +NM_213596.3:c.407C>T NP_998761.2:p.Pro136Leu NC_000012.12:109287904:G:A p.(Pro136Leu) NC_000012.12:109287904:G:A p.(Pro136Leu) NC_000012.12:109287904:G:A Identity +NM_024953.4:c.2609A>G NP_079229.2:p.Gln870Arg NC_000012.12:112039268:T:C p.(Gln870Arg) NC_000012.12:112039268:T:C p.(Gln870Arg) NC_000012.12:112039268:T:C Identity +NM_001025596.3:c.109G>A NP_001020767.1:p.Glu37Lys NC_000011.10:47488905:C:T p.(Glu37Lys) NC_000011.10:47488905:C:T p.(Glu37Lys) NC_000011.10:47488905:C:T Identity +NM_024312.5:c.3380G>A NP_077288.2:p.Arg1127His NC_000012.12:101757265:C:T p.(Arg1127His) NC_000012.12:101757265:C:T p.(Arg1127His) NC_000012.12:101757265:C:T Identity +NM_004890.3:c.32C>G NP_004881.2:p.Ser11Cys NC_000017.11:4967772:G:C p.(Ser11Cys) NC_000017.11:4967772:G:C p.(Ser11Cys) NC_000017.11:4967772:G:C Identity +NM_012384.5:c.768G>C NP_036516.1:p.Glu256Asp NC_000020.11:63592593:C:G p.(Glu256Asp) NC_000020.11:63592593:C:G p.(Glu256Asp) NC_000020.11:63592593:C:G Identity +NM_001077205.1:c.4222A>G NP_001070673.1:p.Ile1408Val NC_000012.12:43425575:T:C ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found +NM_001017415.2:c.442A>G NP_001017415.1:p.Ser148Gly NC_000001.11:62443203:A:G p.(Ser148Gly) NC_000001.11:62443203:A:G p.(Ser148Gly) NC_000001.11:62443203:A:G Identity +NM_003612.5:c.370C>T NP_003603.1:p.Arg124Trp NC_000015.10:74418269:G:A p.(Arg124Trp) NC_000015.10:74418269:G:A p.(Arg124Trp) NC_000015.10:74418269:G:A Identity +NM_020144.5:c.595A>G NP_064529.4:p.Ile199Val NC_000007.14:4861215:T:C p.(Ile199Val) NC_000007.14:4861215:T:C p.(Ile199Val) NC_000007.14:4861215:T:C Identity +NM_001278458.2:c.1547T>G NP_001265387.1:p.Ile516Arg NC_000002.12:164700749:A:C p.(Ile516Arg) NC_000002.12:164700749:A:C p.(Ile516Arg) NC_000002.12:164700749:A:C Identity +NM_001008409.5:c.272A>G NP_001008409.1:p.Tyr91Cys NC_000020.11:31908655:A:G p.(Tyr91Cys) NC_000020.11:31908655:A:G p.(Tyr91Cys) NC_000020.11:31908655:A:G Identity +NM_198850.4:c.592C>T NP_942147.3:p.Arg198Cys NC_000019.10:43497818:G:A p.(Arg198Cys) NC_000019.10:43497818:G:A p.(Arg198Cys) NC_000019.10:43497818:G:A Identity +NM_001386014.1:c.1116C>G NP_001372943.1:p.Cys372Trp NC_000017.11:41378127:G:C p.(Cys372Trp) NC_000017.11:41378127:G:C p.(Cys372Trp) NC_000017.11:41378127:G:C Identity +NM_001353651.2:c.377T>G NP_001340580.1:p.Leu126Arg NC_000013.11:114282898:T:G p.(Leu126Arg) NC_000013.11:114282898:T:G p.(Leu126Arg) NC_000013.11:114282898:T:G Identity +NM_001080779.2:c.3122C>T NP_001074248.1:p.Ser1041Leu NC_000017.11:1467284:G:A p.(Ser1041Leu) NC_000017.11:1467284:G:A p.(Ser1041Leu) NC_000017.11:1467284:G:A Identity +NM_001329137.2:c.2379C>A NP_001316066.1:p.Ser793Arg NC_000001.11:43605299:C:A p.(Ser793Arg) NC_000001.11:43605299:C:A p.(Ser793Arg) NC_000001.11:43605299:C:A Identity +NM_001012967.3:c.3853C>T NP_001012985.2:p.Pro1285Ser NC_000004.12:168391601:G:A p.(Pro1285Ser) NC_000004.12:168391601:G:A p.(Pro1285Ser) NC_000004.12:168391601:G:A Identity +NM_001378477.3:c.38T>G NP_001365406.2:p.Leu13Arg NC_000023.11:41473505:T:G p.(Leu13Arg) NC_000023.11:41473505:T:G p.(Leu13Arg) NC_000023.11:41473505:T:G Identity +NM_018930.4:c.1329C>A NP_061753.1:p.Asp443Glu NC_000005.10:141193880:C:A p.(Asp443Glu) NC_000005.10:141193880:C:A p.(Asp443Glu) NC_000005.10:141193880:C:A Identity +NM_173484.4:c.125C>A NP_775755.3:p.Ser42Tyr NC_000001.11:44129395:C:A p.(Ser42Tyr) NC_000001.11:44129395:C:A p.(Ser42Tyr) NC_000001.11:44129395:C:A Identity +NM_018975.4:c.181G>A NP_061848.2:p.Ala61Thr NC_000016.10:75648062:G:A p.(Ala61Thr) NC_000016.10:75648062:G:A p.(Ala61Thr) NC_000016.10:75648062:G:A Identity +NM_175884.6:c.409G>A NP_787080.2:p.Ala137Thr NC_000007.14:106660487:C:T p.(Ala137Thr) NC_000007.14:106660487:C:T p.(Ala137Thr) NC_000007.14:106660487:C:T Identity +NM_001142447.3:c.373G>C NP_001135919.1:p.Ala125Pro NC_000023.11:120370758:G:C p.(Ala125Pro) NC_000023.11:120370758:G:C p.(Ala125Pro) NC_000023.11:120370758:G:C Identity +NM_001100117.3:c.589T>C NP_001093587.1:p.Ser197Pro NC_000008.11:103766427:T:C p.(Ser197Pro) NC_000008.11:103766427:T:C p.(Ser197Pro) NC_000008.11:103766427:T:C Identity +NM_001012727.2:c.707C>T NP_001012745.1:p.Ala236Val NC_000009.12:136673785:G:A p.(Ala236Val) NC_000009.12:136673785:G:A p.(Ala236Val) NC_000009.12:136673785:G:A Identity +NM_176817.5:c.986C>G NP_789787.5:p.Ser329Cys NC_000007.14:141972703:G:C p.(Ser329Cys) NC_000007.14:141972703:G:C p.(Ser329Cys) NC_000007.14:141972703:G:C Identity +NM_001199022.3:c.242G>A NP_001185951.2:p.Arg81His NC_000016.10:19532515:G:A p.(Arg81His) NC_000016.10:19532515:G:A p.(Arg81His) NC_000016.10:19532515:G:A Identity +NM_001011885.2:c.59C>T NP_001011885.1:p.Pro20Leu NC_000015.10:83067092:G:A p.(Pro20Leu) NC_000015.10:83067092:G:A p.(Pro20Leu) NC_000015.10:83067092:G:A Identity +NM_001146197.3:c.2921G>T NP_001139669.1:p.Cys974Phe NC_000013.11:102747775:C:A p.(Cys974Phe) NC_000013.11:102747775:C:A p.(Cys974Phe) NC_000013.11:102747775:C:A Identity +NM_001037335.2:c.4505G>A NP_001032412.2:p.Arg1502Gln NC_000020.11:63564316:C:T p.(Arg1502Gln) NC_000020.11:63564316:C:T p.(Arg1502Gln) NC_000020.11:63564316:C:T Identity +NM_001001671.4:c.3353A>T NP_001001671.3:p.Asn1118Ile NC_000023.11:19371005:T:A p.(Asn1118Ile) NC_000023.11:19371005:T:A p.(Asn1118Ile) NC_000023.11:19371005:T:A Identity +NM_001003941.3:c.779G>A NP_001003941.1:p.Arg260Gln NC_000007.14:44673931:G:A p.(Arg260Gln) NC_000007.14:44673931:G:A p.(Arg260Gln) NC_000007.14:44673931:G:A Identity +NM_001506.2:c.538C>T NP_001497.1:p.Arg180Trp NC_000019.10:50771137:C:T p.(Arg180Trp) NC_000019.10:50771137:C:T p.(Arg180Trp) NC_000019.10:50771137:C:T Identity +NM_002016.2:c.10246G>A NP_002007.1:p.Glu3416Lys NC_000001.11:152304639:C:T p.(Glu3416Lys) NC_000001.11:152304639:C:T p.(Glu3416Lys) NC_000001.11:152304639:C:T Identity +NM_004051.5:c.527C>T NP_004042.1:p.Thr176Met NC_000003.12:197514298:G:A p.(Thr176Met) NC_000003.12:197514298:G:A p.(Thr176Met) NC_000003.12:197514298:G:A Identity +NM_015001.3:c.2885A>C NP_055816.2:p.Lys962Thr NC_000001.11:15929124:A:C p.(Lys962Thr) NC_000001.11:15929124:A:C p.(Lys962Thr) NC_000001.11:15929124:A:C Identity +NM_001080501.3:c.566C>T NP_001073970.1:p.Thr189Ile NC_000011.10:62790665:G:A p.(Thr189Ile) NC_000011.10:62790665:G:A p.(Thr189Ile) NC_000011.10:62790665:G:A Identity +NM_001146003.2:c.1493C>T NP_001139475.1:p.Ala498Val NC_000003.12:131228620:C:T p.(Ala498Val) NC_000003.12:131228620:C:T p.(Ala498Val) NC_000003.12:131228620:C:T Identity +NM_001267721.2:c.352A>G NP_001254650.1:p.Thr118Ala NC_000016.10:1980427:T:C p.(Thr118Ala) NC_000016.10:1980427:T:C p.(Thr118Ala) NC_000016.10:1980427:T:C Identity +NM_199420.4:c.1627G>A NP_955452.3:p.Val543Met NC_000003.12:121510227:C:T p.(Val543Met) NC_000003.12:121510227:C:T p.(Val543Met) NC_000003.12:121510227:C:T Identity +NM_133367.5:c.443A>G NP_588608.1:p.Tyr148Cys NC_000006.12:52403655:A:G p.(Tyr148Cys) NC_000006.12:52403655:A:G p.(Tyr148Cys) NC_000006.12:52403655:A:G Identity +NM_001287516.2:c.790G>A NP_001274445.1:p.Val264Met NC_000020.11:3801983:G:A p.(Val264Met) NC_000020.11:3801983:G:A p.(Val264Met) NC_000020.11:3801983:G:A Identity +NM_004792.3:c.1750C>T NP_004783.2:p.Arg584Cys NC_000002.12:169637007:C:T p.(Arg584Cys) NC_000002.12:169637007:C:T p.(Arg584Cys) NC_000002.12:169637007:C:T Identity +NM_001164586.2:c.2908G>A NP_001158058.1:p.Gly970Arg NC_000001.11:201207800:G:A p.(Gly970Arg) NC_000001.11:201207800:G:A p.(Gly970Arg) NC_000001.11:201207800:G:A Identity +NM_001083614.2:c.999G>C NP_001077083.1:p.Gln333His NC_000016.10:23532724:C:G p.(Gln333His) NC_000016.10:23532724:C:G p.(Gln333His) NC_000016.10:23532724:C:G Identity +NM_001130864.2:c.505A>G NP_001124336.1:p.Ile169Val NC_000005.10:160118883:T:C p.(Ile169Val) NC_000005.10:160118883:T:C p.(Ile169Val) NC_000005.10:160118883:T:C Identity +NM_006427.4:c.37C>A NP_006418.2:p.Pro13Thr NC_000014.9:104753237:C:A p.(Pro13Thr) NC_000014.9:104753237:C:A p.(Pro13Thr) NC_000014.9:104753237:C:A Identity +NM_001198850.2:c.130G>A NP_001185779.1:p.Ala44Thr NC_000001.11:42278586:C:T p.(Ala44Thr) NC_000001.11:42278586:C:T p.(Ala44Thr) NC_000001.11:42278586:C:T Identity +NM_015904.4:c.664T>G NP_056988.3:p.Ser222Ala NC_000002.12:99361564:T:G p.(Ser222Ala) NC_000002.12:99361564:T:G p.(Ser222Ala) NC_000002.12:99361564:T:G Identity +NM_001330474.2:c.2254G>A NP_001317403.1:p.Asp752Asn NC_000012.12:120575829:G:A p.(Asp752Asn) NC_000012.12:120575829:G:A p.(Asp752Asn) NC_000012.12:120575829:G:A Identity +NM_001204106.2:c.231A>G NP_001191035.1:p.Val77= NC_000002.12:111164134:A:G p.(Val77=) NC_000002.12:111164134:A:G p.(Val77=) NC_000002.12:111164134:A:G Identity +NM_001278510.3:c.2018C>T NP_001265439.2:p.Thr673Met NC_000019.10:44428744:G:A p.(Thr673Met) NC_000019.10:44428744:G:A p.(Thr673Met) NC_000019.10:44428744:G:A Identity +NM_001100122.2:c.3649T>G NP_001093592.1:p.Phe1217Val NC_000019.10:1108500:A:C p.(Phe1217Val) NC_000019.10:1108500:A:C p.(Phe1217Val) NC_000019.10:1108500:A:C Identity +NM_003469.5:c.932T>A NP_003460.2:p.Ile311Asn NC_000002.12:223598350:A:T p.(Ile311Asn) NC_000002.12:223598350:A:T p.(Ile311Asn) NC_000002.12:223598350:A:T Identity +NM_001377321.1:c.2305C>T NP_001364250.1:p.Arg769Cys NC_000017.11:69187705:G:A p.(Arg769Cys) NC_000017.11:69187705:G:A p.(Arg769Cys) NC_000017.11:69187705:G:A Identity +NM_001414176.1:c.1522G>A NP_001401105.1:p.Asp508Asn NC_000012.12:6778247:G:A p.(Asp508Asn) NC_000012.12:6778247:G:A p.(Asp508Asn) NC_000012.12:6778247:G:A Identity +NM_032478.4:c.15G>T NP_115867.2:p.Trp5Cys NC_000017.11:75904860:C:A p.(Trp5Cys) NC_000017.11:75904860:C:A p.(Trp5Cys) NC_000017.11:75904860:C:A Identity +NM_001286829.2:c.574G>A NP_001273758.1:p.Asp192Asn NC_000008.11:143577171:C:T p.(Asp192Asn) NC_000008.11:143577171:C:T p.(Asp192Asn) NC_000008.11:143577171:C:T Identity +NM_001134656.2:c.872G>A NP_001128128.1:p.Arg291His NC_000003.12:42914866:G:A p.(Arg291His) NC_000003.12:42914866:G:A p.(Arg291His) NC_000003.12:42914866:G:A Identity +NM_004886.4:c.1285G>A NP_004877.1:p.Gly429Arg NC_000019.10:3752617:C:T p.(Gly429Arg) NC_000019.10:3752617:C:T p.(Gly429Arg) NC_000019.10:3752617:C:T Identity +NM_002016.2:c.937C>T NP_002007.1:p.His313Tyr NC_000001.11:152313948:G:A p.(His313Tyr) NC_000001.11:152313948:G:A p.(His313Tyr) NC_000001.11:152313948:G:A Identity +NM_002261.3:c.58C>A NP_002252.2:p.Gln20Lys NC_000012.12:10420492:G:T p.(Gln20Lys) NC_000012.12:10420492:G:T p.(Gln20Lys) NC_000012.12:10420492:G:T Identity +NM_001300828.2:c.536A>G NP_001287757.1:p.Asn179Ser NC_000004.12:137531552:T:C p.(Asn179Ser) NC_000004.12:137531552:T:C p.(Asn179Ser) NC_000004.12:137531552:T:C Identity +NM_001317948.2:c.541G>A NP_001304877.1:p.Val181Ile NC_000005.10:176368961:G:A p.(Val181Ile) NC_000005.10:176368961:G:A p.(Val181Ile) NC_000005.10:176368961:G:A Identity +NM_178448.4:c.38C>G NP_848543.2:p.Pro13Arg NC_000009.12:137070422:G:C p.(Pro13Arg) NC_000009.12:137070422:G:C p.(Pro13Arg) NC_000009.12:137070422:G:C Identity +NM_005735.4:c.277G>A NP_005726.1:p.Val93Ile NC_000002.12:97659389:C:T p.(Val93Ile) NC_000002.12:97659389:C:T p.(Val93Ile) NC_000002.12:97659389:C:T Identity +NM_004378.3:c.245G>T NP_004369.1:p.Cys82Phe NC_000015.10:78341216:G:T p.(Cys82Phe) NC_000015.10:78341216:G:T p.(Cys82Phe) NC_000015.10:78341216:G:T Identity +NM_015871.5:c.149A>C NP_056955.2:p.Glu50Ala NC_000001.11:26170131:A:C p.(Glu50Ala) NC_000001.11:26170131:A:C p.(Glu50Ala) NC_000001.11:26170131:A:C Identity +NM_001282710.2:c.376G>A NP_001269639.1:p.Ala126Thr NC_000002.12:11171945:G:A p.(Ala126Thr) NC_000002.12:11171945:G:A p.(Ala126Thr) NC_000002.12:11171945:G:A Identity +NM_001018054.3:c.1722C>A NP_001018064.1:p.Asp574Glu NC_000001.11:53262497:G:T p.(Asp574Glu) NC_000001.11:53262497:G:T p.(Asp574Glu) NC_000001.11:53262497:G:T Identity +NM_152577.4:c.281C>T NP_689790.1:p.Pro94Leu NC_000023.11:22273271:C:T p.(Pro94Leu) NC_000023.11:22273271:C:T p.(Pro94Leu) NC_000023.11:22273271:C:T Identity +NM_022366.3:c.724G>A NP_071761.1:p.Gly242Arg NC_000001.11:246551283:C:T p.(Gly242Arg) NC_000001.11:246551283:C:T p.(Gly242Arg) NC_000001.11:246551283:C:T Identity +NM_001199958.2:c.136C>A NP_001186887.1:p.His46Asn NC_000003.12:179614981:C:A p.(His46Asn) NC_000003.12:179614981:C:A p.(His46Asn) NC_000003.12:179614981:C:A Identity +NM_014991.6:c.5870C>T NP_055806.2:p.Pro1957Leu NC_000004.12:84751585:G:A p.(Pro1957Leu) NC_000004.12:84751585:G:A p.(Pro1957Leu) NC_000004.12:84751585:G:A Identity +NM_015622.6:c.806G>A NP_056437.4:p.Arg269Lys NC_000007.14:5911885:G:A p.(Arg269Lys) NC_000007.14:5911885:G:A p.(Arg269Lys) NC_000007.14:5911885:G:A Identity +NM_001308363.2:c.2705C>T NP_001295292.1:p.Pro902Leu NC_000019.10:17728166:C:T p.(Pro902Leu) NC_000019.10:17728166:C:T p.(Pro902Leu) NC_000019.10:17728166:C:T Identity +NM_001346765.2:c.175C>T NP_001333694.1:p.Arg59Cys NC_000017.11:29166765:G:A p.(Arg59Cys) NC_000017.11:29166765:G:A p.(Arg59Cys) NC_000017.11:29166765:G:A Identity +NM_001369789.1:c.758C>T NP_001356718.1:p.Pro253Leu NC_000019.10:1360678:C:T p.(Pro253Leu) NC_000019.10:1360678:C:T p.(Pro253Leu) NC_000019.10:1360678:C:T Identity +NM_001318786.3:c.496G>A NP_001305715.1:p.Glu166Lys NC_000016.10:85806859:G:A p.(Glu166Lys) NC_000016.10:85806859:G:A p.(Glu166Lys) NC_000016.10:85806859:G:A Identity +NM_001318781.2:c.1832C>T NP_001305710.1:p.Thr611Met NC_000003.12:64633819:G:A p.(Thr611Met) NC_000003.12:64633819:G:A p.(Thr611Met) NC_000003.12:64633819:G:A Identity +NM_001145475.3:c.5755G>A NP_001138947.1:p.Ala1919Thr NC_000012.12:50351076:C:T p.(Ala1919Thr) NC_000012.12:50351076:C:T p.(Ala1919Thr) NC_000012.12:50351076:C:T Identity +NM_004289.7:c.1609C>T NP_004280.5:p.Arg537Cys NC_000007.14:26185306:C:T p.(Arg537Cys) NC_000007.14:26185306:C:T p.(Arg537Cys) NC_000007.14:26185306:C:T Identity +NM_001267609.1:c.328C>T NP_001254538.1:p.Arg110Cys NC_000001.11:168104582:G:A p.(Arg110Cys) NC_000001.11:168104582:G:A p.(Arg110Cys) NC_000001.11:168104582:G:A Identity +NM_005577.4:c.3044C>G NP_005568.2:p.Thr1015Arg NC_000006.12:160600999:G:C p.(Thr1015Arg) NC_000006.12:160600999:G:C p.(Thr1015Arg) NC_000006.12:160600999:G:C Identity +NM_016642.4:c.860G>A NP_057726.4:p.Gly287Glu NC_000015.10:41887240:C:T p.(Gly287Glu) NC_000015.10:41887240:C:T p.(Gly287Glu) NC_000015.10:41887240:C:T Identity +NM_001193552.2:c.2406A>T NP_001180481.1:p.Gln802His NC_000019.10:36748633:T:A p.(Gln802His) NC_000019.10:36748633:T:A p.(Gln802His) NC_000019.10:36748633:T:A Identity +NM_022481.6:c.2686G>A NP_071926.4:p.Ala896Thr NC_000005.10:141665035:C:T p.(Ala896Thr) NC_000005.10:141665035:C:T p.(Ala896Thr) NC_000005.10:141665035:C:T Identity +NM_001040454.1:c.1532C>T NP_001035544.1:p.Ser511Leu NC_000003.12:48629645:G:A p.(Ser511Leu) NC_000003.12:48629645:G:A p.(Ser511Leu) NC_000003.12:48629645:G:A Identity +NM_001145770.3:c.2056C>T NP_001139242.1:p.Arg686Cys NC_000016.10:57663573:C:T p.(Arg686Cys) NC_000016.10:57663573:C:T p.(Arg686Cys) NC_000016.10:57663573:C:T Identity +NM_001411058.1:c.2267C>T NP_001397987.1:p.Ala756Val NC_000010.11:103419697:C:T p.(Ala756Val) NC_000010.11:103419697:C:T p.(Ala756Val) NC_000010.11:103419697:C:T Identity +NM_001363559.2:c.314G>T NP_001350488.1:p.Gly105Val NC_000011.10:66335666:C:A p.(Gly105Val) NC_000011.10:66335666:C:A p.(Gly105Val) NC_000011.10:66335666:C:A Identity +NM_018998.4:c.515T>C NP_061871.1:p.Val172Ala NC_000009.12:136942779:A:G p.(Val172Ala) NC_000009.12:136942779:A:G p.(Val172Ala) NC_000009.12:136942779:A:G Identity +NM_017805.3:c.2380C>T NP_060275.2:p.Arg794Trp NC_000019.10:48724500:G:A p.(Arg794Trp) NC_000019.10:48724500:G:A p.(Arg794Trp) NC_000019.10:48724500:G:A Identity +NM_001007101.4:c.122G>A NP_001007102.1:p.Arg41His NC_000009.12:92855815:C:T p.(Arg41His) NC_000009.12:92855815:C:T p.(Arg41His) NC_000009.12:92855815:C:T Identity +NM_002772.3:c.21A>G NP_002763.3:p.Ile7Met NC_000021.9:18403601:T:C p.(Ile7Met) NC_000021.9:18403601:T:C p.(Ile7Met) NC_000021.9:18403601:T:C Identity +NM_002904.6:c.701G>A NP_002895.3:p.Arg234Gln NC_000006.12:31954595:C:T p.(Arg234Gln) NC_000006.12:31954595:C:T p.(Arg234Gln) NC_000006.12:31954595:C:T Identity +NM_002726.5:c.2119G>A NP_002717.3:p.Asp707Asn NC_000006.12:105278157:C:T p.(Asp707Asn) NC_000006.12:105278157:C:T p.(Asp707Asn) NC_000006.12:105278157:C:T Identity +NM_001399459.1:c.662C>T NP_001386388.1:p.Pro221Leu NC_000009.12:131261011:G:A p.(Pro221Leu) NC_000009.12:131261011:G:A p.(Pro221Leu) NC_000009.12:131261011:G:A Identity +NM_001178074.2:c.2668C>T NP_001171545.1:p.Arg890Cys NC_000012.12:66371836:G:A p.(Arg890Cys) NC_000012.12:66371836:G:A p.(Arg890Cys) NC_000012.12:66371836:G:A Identity +NM_001282466.2:c.136A>G NP_001269395.1:p.Lys46Glu NC_000016.10:84295106:A:G p.(Lys46Glu) NC_000016.10:84295106:A:G p.(Lys46Glu) NC_000016.10:84295106:A:G Identity +NM_001135597.2:c.923A>T NP_001129069.1:p.Tyr308Phe NC_000002.12:55346292:T:A p.(Tyr308Phe) NC_000002.12:55346292:T:A p.(Tyr308Phe) NC_000002.12:55346292:T:A Identity +NM_145294.5:c.22C>T NP_660337.3:p.Pro8Ser NC_000016.10:649773:C:T p.(Pro8Ser) NC_000016.10:649773:C:T p.(Pro8Ser) NC_000016.10:649773:C:T Identity +NM_018264.4:c.1453G>A NP_060734.2:p.Val485Met NC_000007.14:67098608:G:A p.(Val485Met) NC_000007.14:67098608:G:A p.(Val485Met) NC_000007.14:67098608:G:A Identity +NM_001012991.3:c.1174C>T NP_001013009.2:p.Arg392Cys NC_000016.10:19707112:G:A p.(Arg392Cys) NC_000016.10:19707112:G:A p.(Arg392Cys) NC_000016.10:19707112:G:A Identity +NM_001008226.2:c.50G>A NP_001008227.1:p.Cys17Tyr NC_000015.10:82262928:G:A p.(Cys17Tyr) NC_000015.10:82262928:G:A p.(Cys17Tyr) NC_000015.10:82262928:G:A Identity +NM_020525.5:c.95C>A NP_065386.1:p.Ala32Glu NC_000012.12:68253353:G:T p.(Ala32Glu) NC_000012.12:68253353:G:T p.(Ala32Glu) NC_000012.12:68253353:G:T Identity +NM_001278919.2:c.2173C>G NP_001265848.1:p.Pro725Ala NC_000017.11:63543599:C:G p.(Pro725Ala) NC_000017.11:63543599:C:G p.(Pro725Ala) NC_000017.11:63543599:C:G Identity +NM_001184879.2:c.331A>T NP_001171808.1:p.Ile111Leu NC_000001.11:160565460:T:A p.(Ile111Leu) NC_000001.11:160565460:T:A p.(Ile111Leu) NC_000001.11:160565460:T:A Identity +NM_001007257.3:c.3272A>G NP_001007258.1:p.Asn1091Ser NC_000001.11:13781669:A:G p.(Asn1091Ser) NC_000001.11:13781669:A:G p.(Asn1091Ser) NC_000001.11:13781669:A:G Identity +NM_001204446.2:c.46G>A NP_001191375.1:p.Glu16Lys NC_000020.11:3822162:G:A p.(Glu16Lys) NC_000020.11:3822162:G:A p.(Glu16Lys) NC_000020.11:3822162:G:A Identity +NM_001024457.4:c.2653G>T NP_001019628.3:p.Gly885Cys NC_000002.12:86985575:G:T p.(Gly885Cys) NC_000002.12:86985575:G:T p.(Gly885Cys) NC_000002.12:86985575:G:T Identity +NM_001001658.1:c.674C>T NP_001001658.1:p.Pro225Leu NC_000007.14:143026458:G:A p.(Pro225Leu) NC_000007.14:143026458:G:A p.(Pro225Leu) NC_000007.14:143026458:G:A Identity +NM_001190326.2:c.604T>G NP_001177255.1:p.Leu202Val NC_000022.11:20086566:T:G p.(Leu202Val) NC_000022.11:20086566:T:G p.(Leu202Val) NC_000022.11:20086566:T:G Identity +NM_001317931.1:c.709T>A NP_001304860.1:p.Phe237Ile NC_000020.11:35619608:T:A p.(Phe237Ile) NC_000020.11:35619608:T:A p.(Phe237Ile) NC_000020.11:35619608:T:A Identity +NM_001008237.3:c.188A>G NP_001008238.1:p.Asn63Ser NC_000002.12:19897996:T:C p.(Asn63Ser) NC_000002.12:19897996:T:C p.(Asn63Ser) NC_000002.12:19897996:T:C Identity +NM_001287059.2:c.2906A>G NP_001273988.1:p.Asn969Ser NC_000007.14:43469013:A:G p.(Asn969Ser) NC_000007.14:43469013:A:G p.(Asn969Ser) NC_000007.14:43469013:A:G Identity +NM_001278661.2:c.1798C>T NP_001265590.1:p.Arg600Trp NC_000019.10:24127920:C:T p.(Arg600Trp) NC_000019.10:24127920:C:T p.(Arg600Trp) NC_000019.10:24127920:C:T Identity +NM_030928.4:c.1153C>T NP_112190.2:p.Arg385Cys NC_000016.10:88807080:C:T p.(Arg385Cys) NC_000016.10:88807080:C:T p.(Arg385Cys) NC_000016.10:88807080:C:T Identity +NM_015206.3:c.115G>A NP_056021.1:p.Asp39Asn NC_000015.10:79456261:G:A p.(Asp39Asn) NC_000015.10:79456261:G:A p.(Asp39Asn) NC_000015.10:79456261:G:A Identity +NM_018667.4:c.737G>A NP_061137.1:p.Arg246His NC_000016.10:68371444:C:T p.(Arg246His) NC_000016.10:68371444:C:T p.(Arg246His) NC_000016.10:68371444:C:T Identity +NM_001267812.2:c.701C>T NP_001254741.1:p.Pro234Leu NC_000007.14:100857119:C:T p.(Pro234Leu) NC_000007.14:100857119:C:T p.(Pro234Leu) NC_000007.14:100857119:C:T Identity +NM_001256864.2:c.1432G>A NP_001243793.1:p.Gly478Arg NC_000001.11:65389590:G:A p.(Gly478Arg) NC_000001.11:65389590:G:A p.(Gly478Arg) NC_000001.11:65389590:G:A Identity +NM_001122890.3:c.847G>T NP_001116362.1:p.Gly283Trp NC_000017.11:4558649:C:A p.(Gly283Trp) NC_000017.11:4558649:C:A p.(Gly283Trp) NC_000017.11:4558649:C:A Identity +NM_001010861.3:c.784A>G NP_001010861.1:p.Ile262Val NC_000001.11:98921895:T:C p.(Ile262Val) NC_000001.11:98921895:T:C p.(Ile262Val) NC_000001.11:98921895:T:C Identity +NM_016568.3:c.947C>T NP_057652.1:p.Ala316Val NC_000005.10:33937686:C:T p.(Ala316Val) NC_000005.10:33937686:C:T p.(Ala316Val) NC_000005.10:33937686:C:T Identity +NM_139285.4:c.1757G>A NP_644814.1:p.Arg586Gln NC_000017.11:35745739:C:T p.(Arg586Gln) NC_000017.11:35745739:C:T p.(Arg586Gln) NC_000017.11:35745739:C:T Identity +NM_001009992.1:c.688A>G NP_001009992.1:p.Ser230Gly NC_000001.11:182057322:T:C p.(Ser230Gly) NC_000001.11:182057322:T:C p.(Ser230Gly) NC_000001.11:182057322:T:C Identity +NM_015073.3:c.820C>G NP_055888.1:p.Leu274Val NC_000019.10:38082384:C:G p.(Leu274Val) NC_000019.10:38082384:C:G p.(Leu274Val) NC_000019.10:38082384:C:G Identity +NM_018416.3:c.1313A>G NP_060886.1:p.Gln438Arg NC_000012.12:8048783:A:G p.(Gln438Arg) NC_000012.12:8048783:A:G p.(Gln438Arg) NC_000012.12:8048783:A:G Identity +NM_001375360.1:c.965C>T NP_001362289.1:p.Ser322Leu NC_000008.11:89790168:C:T p.(Ser322Leu) NC_000008.11:89790168:C:T p.(Ser322Leu) NC_000008.11:89790168:C:T Identity +NM_001145250.2:c.1186G>C NP_001138722.1:p.Val396Leu NC_000002.12:174337270:G:C p.(Val396Leu) NC_000002.12:174337270:G:C p.(Val396Leu) NC_000002.12:174337270:G:C Identity +NM_001004739.1:c.104A>G NP_001004739.1:p.Tyr35Cys NC_000011.10:55827321:A:G p.(Tyr35Cys) NC_000011.10:55827321:A:G p.(Tyr35Cys) NC_000011.10:55827321:A:G Identity +NM_001171167.2:c.68C>A NP_001164638.1:p.Thr23Asn NC_000017.11:4986223:G:T p.(Thr23Asn) NC_000017.11:4986223:G:T p.(Thr23Asn) NC_000017.11:4986223:G:T Identity +NM_016350.5:c.3299C>G NP_057434.4:p.Ala1100Gly NC_000014.9:50741591:G:C p.(Ala1100Gly) NC_000014.9:50741591:G:C p.(Ala1100Gly) NC_000014.9:50741591:G:C Identity +NM_033225.6:c.3415G>A NP_150094.5:p.Gly1139Ser NC_000008.11:3348050:C:T p.(Gly1139Ser) NC_000008.11:3348050:C:T p.(Gly1139Ser) NC_000008.11:3348050:C:T Identity +NM_001100112.2:c.1274A>G NP_001093582.1:p.Asn425Ser NC_000017.11:10539346:T:C p.(Asn425Ser) NC_000017.11:10539346:T:C p.(Asn425Ser) NC_000017.11:10539346:T:C Identity +NM_020950.2:c.638T>C NP_066001.1:p.Ile213Thr NC_000001.11:180916740:T:C p.(Ile213Thr) NC_000001.11:180916740:T:C p.(Ile213Thr) NC_000001.11:180916740:T:C Identity +NM_001293.3:c.492C>G NP_001284.1:p.Ile164Met NC_000011.10:77622653:G:C p.(Ile164Met) NC_000011.10:77622653:G:C p.(Ile164Met) NC_000011.10:77622653:G:C Identity +NM_001013706.3:c.821G>A NP_001013728.2:p.Arg274His NC_000019.10:4524975:C:T p.(Arg274His) NC_000019.10:4524975:C:T p.(Arg274His) NC_000019.10:4524975:C:T Identity +NM_001011543.3:c.506A>G NP_001011543.3:p.Glu169Gly NC_000023.11:152135114:T:C p.(Glu169Gly) NC_000023.11:152135114:T:C p.(Glu169Gly) NC_000023.11:152135114:T:C Identity +NM_033067.3:c.313G>A NP_149056.1:p.Gly105Arg NC_000001.11:53459765:G:A p.(Gly105Arg) NC_000001.11:53459765:G:A p.(Gly105Arg) NC_000001.11:53459765:G:A Identity +NM_015110.4:c.1183A>G NP_055925.2:p.Asn395Asp NC_000009.12:70298094:A:G p.(Asn395Asp) NC_000009.12:70298094:A:G p.(Asn395Asp) NC_000009.12:70298094:A:G Identity +NM_145059.3:c.2507A>C NP_659496.2:p.His836Pro NC_000016.10:70475478:A:C p.(His836Pro) NC_000016.10:70475478:A:C p.(His836Pro) NC_000016.10:70475478:A:C Identity +NM_012390.4:c.63G>C NP_036522.3:p.Glu21Asp NC_000004.12:70366651:G:C p.(Glu21Asp) NC_000004.12:70366651:G:C p.(Glu21Asp) NC_000004.12:70366651:G:C Identity +NM_001001132.2:c.2895C>G NP_001001132.1:p.Tyr965Ter NC_000021.9:33818433:C:G p.(Tyr965Ter) NC_000021.9:33818433:C:G p.(Tyr965Ter) NC_000021.9:33818433:C:G Identity +NM_012451.4:c.530A>C NP_036583.2:p.Lys177Thr NC_000019.10:48376142:A:C p.(Lys177Thr) NC_000019.10:48376142:A:C p.(Lys177Thr) NC_000019.10:48376142:A:C Identity +NM_001025096.2:c.170A>G NP_001020267.1:p.Asp57Gly NC_000018.10:26144625:A:G p.(Asp57Gly) NC_000018.10:26144625:A:G p.(Asp57Gly) NC_000018.10:26144625:A:G Identity +NM_001113490.2:c.2338T>A NP_001106962.1:p.Ser780Thr NC_000023.11:112781020:A:T p.(Ser780Thr) NC_000023.11:112781020:A:T p.(Ser780Thr) NC_000023.11:112781020:A:T Identity +NM_207309.3:c.625G>A NP_997192.2:p.Gly209Ser NC_000009.12:137078631:G:A p.(Gly209Ser) NC_000009.12:137078631:G:A p.(Gly209Ser) NC_000009.12:137078631:G:A Identity +NM_007157.4:c.200G>C NP_009088.1:p.Arg67Pro NC_000023.11:57592247:G:C p.(Arg67Pro) NC_000023.11:57592247:G:C p.(Arg67Pro) NC_000023.11:57592247:G:C Identity +NM_001367282.1:c.1034G>C NP_001354211.1:p.Gly345Ala NC_000019.10:19145757:C:G p.(Gly345Ala) NC_000019.10:19145757:C:G p.(Gly345Ala) NC_000019.10:19145757:C:G Identity +NM_001394997.1:c.385A>G NP_001381926.1:p.Ile129Val NC_000004.12:70249294:A:G p.(Ile129Val) NC_000004.12:70249294:A:G p.(Ile129Val) NC_000004.12:70249294:A:G Identity +NM_003683.6:c.1051C>T NP_003674.1:p.Arg351Cys NC_000021.9:43802314:C:T p.(Arg351Cys) NC_000021.9:43802314:C:T p.(Arg351Cys) NC_000021.9:43802314:C:T Identity +NM_001317950.2:c.1463C>T NP_001304879.1:p.Thr488Met NC_000009.12:114368548:G:A p.(Thr488Met) NC_000009.12:114368548:G:A p.(Thr488Met) NC_000009.12:114368548:G:A Identity +NM_001145018.3:c.379C>T NP_001138490.1:p.Arg127Trp NC_000011.10:119190810:G:A p.(Arg127Trp) NC_000011.10:119190810:G:A p.(Arg127Trp) NC_000011.10:119190810:G:A Identity +NM_001379150.1:c.3517G>A NP_001366079.1:p.Glu1173Lys NC_000023.11:108732827:C:T p.(Glu1173Lys) NC_000023.11:108732827:C:T p.(Glu1173Lys) NC_000023.11:108732827:C:T Identity +NM_000308.4:c.941G>C NP_000299.3:p.Trp314Ser NC_000020.11:45894893:G:C p.(Trp314Ser) NC_000020.11:45894893:G:C p.(Trp314Ser) NC_000020.11:45894893:G:C Identity +NM_173808.3:c.1049A>C NP_776169.2:p.Asn350Thr NC_000001.11:71407461:T:G p.(Asn350Thr) NC_000001.11:71407461:T:G p.(Asn350Thr) NC_000001.11:71407461:T:G Identity +NM_175856.5:c.2566A>C NP_787052.3:p.Ser856Arg NC_000005.10:130185707:A:C p.(Ser856Arg) NC_000005.10:130185707:A:C p.(Ser856Arg) NC_000005.10:130185707:A:C Identity +NM_001367983.1:c.1436G>T NP_001354912.1:p.Ser479Ile NC_000012.12:124782782:C:A p.(Ser479Ile) NC_000012.12:124782782:C:A p.(Ser479Ile) NC_000012.12:124782782:C:A Identity +NM_001288800.2:c.1399A>G NP_001275729.1:p.Met467Val NC_000019.10:37152499:T:C p.(Met467Val) NC_000019.10:37152499:T:C p.(Met467Val) NC_000019.10:37152499:T:C Identity +NM_001085420.2:c.583A>C NP_001078889.1:p.Thr195Pro NC_000003.12:146591751:T:G p.(Thr195Pro) NC_000003.12:146591751:T:G p.(Thr195Pro) NC_000003.12:146591751:T:G Identity +NM_001100112.2:c.4871T>C NP_001093582.1:p.Met1624Thr NC_000017.11:10524856:A:G p.(Met1624Thr) NC_000017.11:10524856:A:G p.(Met1624Thr) NC_000017.11:10524856:A:G Identity +NM_001251888.2:c.247C>T NP_001238817.1:p.Arg83Trp NC_000017.11:81983641:C:T p.(Arg83Trp) NC_000017.11:81983641:C:T p.(Arg83Trp) NC_000017.11:81983641:C:T Identity +NM_001130016.3:c.296T>A NP_001123488.1:p.Met99Lys NC_000004.12:76082049:T:A p.(Met99Lys) NC_000004.12:76082049:T:A p.(Met99Lys) NC_000004.12:76082049:T:A Identity +NM_001161441.2:c.514C>T NP_001154913.1:p.Arg172Trp NC_000001.11:156813930:G:A p.(Arg172Trp) NC_000001.11:156813930:G:A p.(Arg172Trp) NC_000001.11:156813930:G:A Identity +NM_022083.1:c.577C>T NP_071366.1:p.Arg193Trp NC_000001.11:184808225:G:A ERR:Data provider error: ValueError: Transcript NM_022083.1 not found ERR:Data provider error: ValueError: Transcript NM_022083.1 not found ERR:AlignmentMapper(tx_ac=NM_022083.1, alt_ac=NM_022083.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_022083.1, alt_ac=NM_022083.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_022083.1 not found +NM_006532.4:c.1216C>T NP_006523.1:p.His406Tyr NC_000019.10:18450725:G:A p.(His406Tyr) NC_000019.10:18450725:G:A p.(His406Tyr) NC_000019.10:18450725:G:A Identity +NM_001284497.2:c.1343C>T NP_001271426.1:p.Thr448Met NC_000016.10:264169:C:T p.(Thr448Met) NC_000016.10:264169:C:T p.(Thr448Met) NC_000016.10:264169:C:T Identity +NM_000482.4:c.461G>T NP_000473.2:p.Arg154Leu NC_000011.10:116821596:C:A p.(Arg154Leu) NC_000011.10:116821596:C:A p.(Arg154Leu) NC_000011.10:116821596:C:A Identity +NM_001367484.1:c.2180C>T NP_001354413.1:p.Pro727Leu NC_000001.11:53509169:G:A p.(Pro727Leu) NC_000001.11:53509169:G:A p.(Pro727Leu) NC_000001.11:53509169:G:A Identity +NM_005245.4:c.2874G>C NP_005236.2:p.Gln958His NC_000004.12:186706953:C:G p.(Gln958His) NC_000004.12:186706953:C:G p.(Gln958His) NC_000004.12:186706953:C:G Identity +NM_018418.5:c.125T>G NP_060888.2:p.Leu42Arg NC_000014.9:88393422:T:G p.(Leu42Arg) NC_000014.9:88393422:T:G p.(Leu42Arg) NC_000014.9:88393422:T:G Identity +NM_001143841.2:c.503T>G NP_001137313.1:p.Phe168Cys NC_000012.12:47966689:T:G p.(Phe168Cys) NC_000012.12:47966689:T:G p.(Phe168Cys) NC_000012.12:47966689:T:G Identity +NM_001273.5:c.76A>G NP_001264.2:p.Asn26Asp NC_000012.12:6606297:T:C p.(Asn26Asp) NC_000012.12:6606297:T:C p.(Asn26Asp) NC_000012.12:6606297:T:C Identity +NM_001001344.3:c.2593A>G NP_001001344.1:p.Ile865Val NC_000023.11:153558270:A:G p.(Ile865Val) NC_000023.11:153558270:A:G p.(Ile865Val) NC_000023.11:153558270:A:G Identity +NM_032656.4:c.3086G>C NP_116045.2:p.Arg1029Pro NC_000012.12:124950447:C:G p.(Arg1029Pro) NC_000012.12:124950447:C:G p.(Arg1029Pro) NC_000012.12:124950447:C:G Identity +NM_001009811.4:c.481G>A NP_001009811.2:p.Val161Met NC_000017.11:81206777:C:T p.(Val161Met) NC_000017.11:81206777:C:T p.(Val161Met) NC_000017.11:81206777:C:T Identity +NM_003906.5:c.3174C>G NP_003897.2:p.Phe1058Leu NC_000021.9:46265380:G:C p.(Phe1058Leu) NC_000021.9:46265380:G:C p.(Phe1058Leu) NC_000021.9:46265380:G:C Identity +NM_001012416.1:c.317A>C NP_001012416.1:p.Gln106Pro NC_000011.10:1697561:A:C p.(Gln106Pro) NC_000011.10:1697561:A:C p.(Gln106Pro) NC_000011.10:1697561:A:C Identity +NM_000455.5:c.398T>A NP_000446.1:p.Val133Glu NC_000019.10:1219346:T:A p.(Val133Glu) NC_000019.10:1219346:T:A p.(Val133Glu) NC_000019.10:1219346:T:A Identity +NM_001370746.1:c.596C>T NP_001357675.1:p.Pro199Leu NC_000014.9:76809111:G:A p.(Pro199Leu) NC_000014.9:76809111:G:A p.(Pro199Leu) NC_000014.9:76809111:G:A Identity +NM_004228.7:c.257A>G NP_004219.3:p.Asn86Ser NC_000019.10:48472346:A:G p.(Asn86Ser) NC_000019.10:48472346:A:G p.(Asn86Ser) NC_000019.10:48472346:A:G Identity +NM_019058.4:c.76C>T NP_061931.1:p.Pro26Ser NC_000010.11:72274291:C:T p.(Pro26Ser) NC_000010.11:72274291:C:T p.(Pro26Ser) NC_000010.11:72274291:C:T Identity +NM_001395846.1:c.316G>A NP_001382775.1:p.Gly106Ser NC_000007.14:100477722:C:T p.(Gly106Ser) NC_000007.14:100477722:C:T p.(Gly106Ser) NC_000007.14:100477722:C:T Identity +NM_001161619.2:c.1199C>T NP_001155091.1:p.Pro400Leu NC_000019.10:5785230:G:A p.(Pro400Leu) NC_000019.10:5785230:G:A p.(Pro400Leu) NC_000019.10:5785230:G:A Identity +NM_001077365.2:c.1001G>A NP_001070833.1:p.Arg334Gln NC_000009.12:131512054:G:A p.(Arg334Gln) NC_000009.12:131512054:G:A p.(Arg334Gln) NC_000009.12:131512054:G:A Identity +NM_001291314.2:c.137G>A NP_001278243.1:p.Arg46His NC_000012.12:10882661:C:T p.(Arg46His) NC_000012.12:10882661:C:T p.(Arg46His) NC_000012.12:10882661:C:T Identity +NM_001007537.3:c.154A>C NP_001007538.1:p.Lys52Gln NC_000013.11:23896832:T:G p.(Lys52Gln) NC_000013.11:23896832:T:G p.(Lys52Gln) NC_000013.11:23896832:T:G Identity +NM_001282805.2:c.1106A>C NP_001269734.1:p.Asp369Ala NC_000002.12:159748395:A:C p.(Asp369Ala) NC_000002.12:159748395:A:C p.(Asp369Ala) NC_000002.12:159748395:A:C Identity +NM_021141.4:c.1519C>G NP_066964.1:p.Pro507Ala NC_000002.12:216148124:C:G p.(Pro507Ala) NC_000002.12:216148124:C:G p.(Pro507Ala) NC_000002.12:216148124:C:G Identity +NM_001143974.3:c.97A>G NP_001137446.1:p.Ile33Val NC_000010.11:50248513:T:C p.(Ile33Val) NC_000010.11:50248513:T:C p.(Ile33Val) NC_000010.11:50248513:T:C Identity +NM_001824.5:c.455G>A NP_001815.2:p.Arg152Gln NC_000019.10:45315490:C:T p.(Arg152Gln) NC_000019.10:45315490:C:T p.(Arg152Gln) NC_000019.10:45315490:C:T Identity +NM_003613.4:c.1632G>C NP_003604.4:p.Arg544Ser NC_000015.10:65198653:C:G p.(Arg544Ser) NC_000015.10:65198653:C:G p.(Arg544Ser) NC_000015.10:65198653:C:G Identity +NM_001191037.2:c.124G>A NP_001177966.1:p.Val42Ile NC_000002.12:231062310:G:A p.(Val42Ile) NC_000002.12:231062310:G:A p.(Val42Ile) NC_000002.12:231062310:G:A Identity +NM_002389.4:c.10C>T NP_002380.3:p.Pro4Ser NC_000001.11:207752221:C:T p.(Pro4Ser) NC_000001.11:207752221:C:T p.(Pro4Ser) NC_000001.11:207752221:C:T Identity +NM_000063.6:c.2156G>A NP_000054.2:p.Arg719His NC_000006.12:31945253:G:A p.(Arg719His) NC_000006.12:31945253:G:A p.(Arg719His) NC_000006.12:31945253:G:A Identity +NM_001160227.2:c.3190T>A NP_001153699.1:p.Leu1064Met NC_000015.10:44610940:A:T p.(Leu1064Met) NC_000015.10:44610940:A:T p.(Leu1064Met) NC_000015.10:44610940:A:T Identity +NM_001083335.2:c.1418G>A NP_001076804.1:p.Arg473His NC_000019.10:44328756:C:T p.(Arg473His) NC_000019.10:44328756:C:T p.(Arg473His) NC_000019.10:44328756:C:T Identity +NM_014571.4:c.854G>T NP_055386.2:p.Gly285Val NC_000001.11:39626639:C:A p.(Gly285Val) NC_000001.11:39626639:C:A p.(Gly285Val) NC_000001.11:39626639:C:A Identity +NM_001395489.1:c.626G>A NP_001382418.1:p.Arg209Gln NC_000019.10:49061371:C:T p.(Arg209Gln) NC_000019.10:49061371:C:T p.(Arg209Gln) NC_000019.10:49061371:C:T Identity +NM_152429.5:c.614A>G NP_689642.3:p.Asn205Ser NC_000010.11:91908355:T:C p.(Asn205Ser) NC_000010.11:91908355:T:C p.(Asn205Ser) NC_000010.11:91908355:T:C Identity +NM_138964.4:c.185A>C NP_620414.1:p.Lys62Thr NC_000002.12:68646005:A:C p.(Lys62Thr) NC_000002.12:68646005:A:C p.(Lys62Thr) NC_000002.12:68646005:A:C Identity +NM_001316963.2:c.14C>T NP_001303892.1:p.Ala5Val NC_000004.12:74794311:G:A p.(Ala5Val) NC_000004.12:74794311:G:A p.(Ala5Val) NC_000004.12:74794311:G:A Identity +NM_001277127.2:c.608T>C NP_001264056.1:p.Ile203Thr NC_000003.12:169856751:A:G p.(Ile203Thr) NC_000003.12:169856751:A:G p.(Ile203Thr) NC_000003.12:169856751:A:G Identity +NM_001330640.2:c.2390T>G NP_001317569.1:p.Val797Gly NC_000009.12:19332113:T:G p.(Val797Gly) NC_000009.12:19332113:T:G p.(Val797Gly) NC_000009.12:19332113:T:G Identity +NM_001168339.2:c.601A>G NP_001161811.2:p.Thr201Ala NC_000009.12:15199879:T:C p.(Thr201Ala) NC_000009.12:15199879:T:C p.(Thr201Ala) NC_000009.12:15199879:T:C Identity +NM_001321881.2:c.733A>T NP_001308810.1:p.Thr245Ser NC_000009.12:85977416:A:T p.(Thr245Ser) NC_000009.12:85977416:A:T p.(Thr245Ser) NC_000009.12:85977416:A:T Identity +NM_001167965.1:c.284G>A NP_001161437.1:p.Arg95Gln NC_000001.11:43181659:G:A p.(Arg95Gln) NC_000001.11:43181659:G:A p.(Arg95Gln) NC_000001.11:43181659:G:A Identity +NM_001368395.3:c.2895G>T NP_001355324.1:p.Gln965His NC_000023.11:12717609:G:T p.(Gln965His) NC_000023.11:12717609:G:T p.(Gln965His) NC_000023.11:12717609:G:T Identity +NM_001003801.2:c.529G>A NP_001003801.1:p.Gly177Ser NC_000007.14:151242530:C:T p.(Gly177Ser) NC_000007.14:151242530:C:T p.(Gly177Ser) NC_000007.14:151242530:C:T Identity +NM_001267895.2:c.1310G>A NP_001254824.1:p.Arg437Gln NC_000022.11:29258927:G:A p.(Arg437Gln) NC_000022.11:29258927:G:A p.(Arg437Gln) NC_000022.11:29258927:G:A Identity +NM_153209.4:c.560T>G NP_694941.2:p.Val187Gly NC_000017.11:74344325:T:G p.(Val187Gly) NC_000017.11:74344325:T:G p.(Val187Gly) NC_000017.11:74344325:T:G Identity +NM_001178145.3:c.1544G>A NP_001171616.2:p.Arg515Lys NC_000003.12:151436953:C:T p.(Arg515Lys) NC_000003.12:151436953:C:T p.(Arg515Lys) NC_000003.12:151436953:C:T Identity +NM_001120.5:c.640G>A NP_001111.3:p.Asp214Asn NC_000004.12:2932403:C:T p.(Asp214Asn) NC_000004.12:2932403:C:T p.(Asp214Asn) NC_000004.12:2932403:C:T Identity +NM_001304448.1:c.260T>C NP_001291377.1:p.Val87Ala NC_000012.12:10450506:A:G p.(Val87Ala) NC_000012.12:10450506:A:G p.(Val87Ala) NC_000012.12:10450506:A:G Identity +NM_001005179.4:c.724A>G NP_001005179.3:p.Ser242Gly NC_000011.10:6002268:T:C p.(Ser242Gly) NC_000011.10:6002268:T:C p.(Ser242Gly) NC_000011.10:6002268:T:C Identity +NM_001367868.2:c.1787G>T NP_001354797.1:p.Gly596Val NC_000019.10:4512172:C:A p.(Gly596Val) NC_000019.10:4512172:C:A p.(Gly596Val) NC_000019.10:4512172:C:A Identity +NM_022122.3:c.874C>T NP_071405.2:p.Arg292Cys NC_000011.10:102696398:G:A p.(Arg292Cys) NC_000011.10:102696398:G:A p.(Arg292Cys) NC_000011.10:102696398:G:A Identity +NM_001126.5:c.270T>A NP_001117.2:p.Asn90Lys NC_000001.11:244437681:A:T p.(Asn90Lys) NC_000001.11:244437681:A:T p.(Asn90Lys) NC_000001.11:244437681:A:T Identity +NM_002798.3:c.697G>A NP_002789.1:p.Val233Ile NC_000017.11:4798398:G:A p.(Val233Ile) NC_000017.11:4798398:G:A p.(Val233Ile) NC_000017.11:4798398:G:A Identity +NM_012451.4:c.270G>T NP_036583.2:p.Glu90Asp NC_000019.10:48373692:G:T p.(Glu90Asp) NC_000019.10:48373692:G:T p.(Glu90Asp) NC_000019.10:48373692:G:T Identity +NM_138964.4:c.679C>A NP_620414.1:p.Leu227Ile NC_000002.12:68655072:C:A p.(Leu227Ile) NC_000002.12:68655072:C:A p.(Leu227Ile) NC_000002.12:68655072:C:A Identity +NM_001114133.3:c.1571G>A NP_001107605.1:p.Gly524Glu NC_000010.11:73648080:C:T p.(Gly524Glu) NC_000010.11:73648080:C:T p.(Gly524Glu) NC_000010.11:73648080:C:T Identity +NM_001077205.1:c.4772T>C NP_001070673.1:p.Ile1591Thr NC_000012.12:43383582:A:G ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077205.1, alt_ac=NM_001077205.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077205.1 not found +NM_001321102.2:c.784C>T NP_001308031.1:p.Pro262Ser NC_000002.12:3388406:C:T p.(Pro262Ser) NC_000002.12:3388406:C:T p.(Pro262Ser) NC_000002.12:3388406:C:T Identity +NM_018897.3:c.8755G>A NP_061720.2:p.Gly2919Arg NC_000002.12:195853368:C:T p.(Gly2919Arg) NC_000002.12:195853368:C:T p.(Gly2919Arg) NC_000002.12:195853368:C:T Identity +NM_133464.5:c.1085A>G NP_597721.2:p.Asn362Ser NC_000009.12:111542019:A:G p.(Asn362Ser) NC_000009.12:111542019:A:G p.(Asn362Ser) NC_000009.12:111542019:A:G Identity +NM_001367447.1:c.3225G>T NP_001354376.1:p.Leu1075Phe NC_000010.11:24597525:C:A p.(Leu1075Phe) NC_000010.11:24597525:C:A p.(Leu1075Phe) NC_000010.11:24597525:C:A Identity +NM_001142958.2:c.502G>A NP_001136430.1:p.Ala168Thr NC_000018.10:74130488:C:T p.(Ala168Thr) NC_000018.10:74130488:C:T p.(Ala168Thr) NC_000018.10:74130488:C:T Identity +NM_001174071.3:c.1222G>A NP_001167542.1:p.Val408Ile NC_000005.10:80146105:C:T p.(Val408Ile) NC_000005.10:80146105:C:T p.(Val408Ile) NC_000005.10:80146105:C:T Identity +NM_152723.3:c.758C>A NP_689936.1:p.Thr253Lys NC_000011.10:85685372:G:T p.(Thr253Lys) NC_000011.10:85685372:G:T p.(Thr253Lys) NC_000011.10:85685372:G:T Identity +NM_001007563.3:c.183C>A NP_001007564.1:p.Asp61Glu NC_000009.12:38424241:G:T p.(Asp61Glu) NC_000009.12:38424241:G:T p.(Asp61Glu) NC_000009.12:38424241:G:T Identity +NM_173560.4:c.2716A>C NP_775831.2:p.Ser906Arg NC_000006.12:116931434:A:C p.(Ser906Arg) NC_000006.12:116931434:A:C p.(Ser906Arg) NC_000006.12:116931434:A:C Identity +NM_001098623.2:c.23783G>A NP_001092093.2:p.Gly7928Asp NC_000001.11:228378670:G:A p.(Gly7928Asp) NC_000001.11:228378670:G:A p.(Gly7928Asp) NC_000001.11:228378670:G:A Identity +NM_001330593.2:c.625A>G NP_001317522.1:p.Thr209Ala NC_000008.11:101558806:A:G p.(Thr209Ala) NC_000008.11:101558806:A:G p.(Thr209Ala) NC_000008.11:101558806:A:G Identity +NM_003619.4:c.2525G>A NP_003610.2:p.Gly842Glu NC_000004.12:118282038:C:T p.(Gly842Glu) NC_000004.12:118282038:C:T p.(Gly842Glu) NC_000004.12:118282038:C:T Identity +NM_032294.3:c.1240G>A NP_115670.1:p.Glu414Lys NC_000017.11:3869587:C:T p.(Glu414Lys) NC_000017.11:3869587:C:T p.(Glu414Lys) NC_000017.11:3869587:C:T Identity +NM_012232.6:c.943G>A NP_036364.2:p.Val315Ile NC_000017.11:42404916:C:T p.(Val315Ile) NC_000017.11:42404916:C:T p.(Val315Ile) NC_000017.11:42404916:C:T Identity +NM_003325.4:c.295C>T NP_003316.3:p.Arg99Trp NC_000022.11:19407190:G:A p.(Arg99Trp) NC_000022.11:19407190:G:A p.(Arg99Trp) NC_000022.11:19407190:G:A Identity +NM_001079878.2:c.1150A>C NP_001073347.1:p.Met384Leu NC_000002.12:98396373:A:C p.(Met384Leu) NC_000002.12:98396373:A:C p.(Met384Leu) NC_000002.12:98396373:A:C Identity +NM_001130083.2:c.1064G>A NP_001123555.1:p.Arg355Gln NC_000004.12:8029759:C:T p.(Arg355Gln) NC_000004.12:8029759:C:T p.(Arg355Gln) NC_000004.12:8029759:C:T Identity +NM_000960.4:c.128C>T NP_000951.1:p.Pro43Leu NC_000019.10:46624097:G:A p.(Pro43Leu) NC_000019.10:46624097:G:A p.(Pro43Leu) NC_000019.10:46624097:G:A Identity +NM_015113.4:c.1364A>G NP_055928.3:p.Glu455Gly NC_000017.11:4105722:T:C p.(Glu455Gly) NC_000017.11:4105722:T:C p.(Glu455Gly) NC_000017.11:4105722:T:C Identity +NM_001323303.2:c.189G>C NP_001310232.1:p.Lys63Asn NC_000020.11:56386386:C:G p.(Lys63Asn) NC_000020.11:56386386:C:G p.(Lys63Asn) NC_000020.11:56386386:C:G Identity +NM_001256012.3:c.3803C>T NP_001242941.1:p.Ala1268Val NC_000017.11:8499417:G:A p.(Ala1268Val) NC_000017.11:8499417:G:A p.(Ala1268Val) NC_000017.11:8499417:G:A Identity +NM_001291088.2:c.6993G>T NP_001278017.1:p.Lys2331Asn NC_000019.10:37886677:C:A p.(Lys2331Asn) NC_000019.10:37886677:C:A p.(Lys2331Asn) NC_000019.10:37886677:C:A Identity +NM_001135110.3:c.163T>C NP_001128582.1:p.Cys55Arg NC_000016.10:4426043:T:C p.(Cys55Arg) NC_000016.10:4426043:T:C p.(Cys55Arg) NC_000016.10:4426043:T:C Identity +NM_148894.3:c.8909G>T NP_683692.2:p.Arg2970Leu NC_000004.12:13576966:C:A p.(Arg2970Leu) NC_000004.12:13576966:C:A p.(Arg2970Leu) NC_000004.12:13576966:C:A Identity +NM_001013706.3:c.917G>A NP_001013728.2:p.Arg306Gln NC_000019.10:4524002:C:T p.(Arg306Gln) NC_000019.10:4524002:C:T p.(Arg306Gln) NC_000019.10:4524002:C:T Identity +NM_001242948.2:c.233T>C NP_001229877.1:p.Ile78Thr NC_000007.14:37948985:T:C p.(Ile78Thr) NC_000007.14:37948985:T:C p.(Ile78Thr) NC_000007.14:37948985:T:C Identity +NM_001270934.2:c.2261A>T NP_001257863.1:p.Glu754Val NC_000005.10:147617932:T:A p.(Glu754Val) NC_000005.10:147617932:T:A p.(Glu754Val) NC_000005.10:147617932:T:A Identity +NM_005073.4:c.1399C>T NP_005064.1:p.Pro467Ser NC_000013.11:98704305:G:A p.(Pro467Ser) NC_000013.11:98704305:G:A p.(Pro467Ser) NC_000013.11:98704305:G:A Identity +NM_015490.4:c.740G>A NP_056305.1:p.Arg247His NC_000010.11:100507466:C:T p.(Arg247His) NC_000010.11:100507466:C:T p.(Arg247His) NC_000010.11:100507466:C:T Identity +NM_001077186.2:c.4645G>A NP_001070654.1:p.Gly1549Ser NC_000019.10:50286685:G:A p.(Gly1549Ser) NC_000019.10:50286685:G:A p.(Gly1549Ser) NC_000019.10:50286685:G:A Identity +NM_001100876.2:c.148C>T NP_001094346.1:p.Arg50Cys NC_000009.12:128927151:C:T p.(Arg50Cys) NC_000009.12:128927151:C:T p.(Arg50Cys) NC_000009.12:128927151:C:T Identity +NM_020957.4:c.2179A>G NP_066008.2:p.Met727Val NC_000005.10:141184737:A:G p.(Met727Val) NC_000005.10:141184737:A:G p.(Met727Val) NC_000005.10:141184737:A:G Identity +NM_173628.4:c.2441C>T NP_775899.3:p.Ala814Val NC_000017.11:78543947:G:A p.(Ala814Val) NC_000017.11:78543947:G:A p.(Ala814Val) NC_000017.11:78543947:G:A Identity +NM_001317950.2:c.3368C>A NP_001304879.1:p.Ser1123Tyr NC_000009.12:114347753:G:T p.(Ser1123Tyr) NC_000009.12:114347753:G:T p.(Ser1123Tyr) NC_000009.12:114347753:G:T Identity +NM_001206491.2:c.1005C>G NP_001193420.1:p.Ile335Met NC_000020.11:3865951:C:G p.(Ile335Met) NC_000020.11:3865951:C:G p.(Ile335Met) NC_000020.11:3865951:C:G Identity +NM_001317926.2:c.1525C>A NP_001304855.1:p.Pro509Thr NC_000009.12:128714604:C:A p.(Pro509Thr) NC_000009.12:128714604:C:A p.(Pro509Thr) NC_000009.12:128714604:C:A Identity +NM_001330384.2:c.380A>C NP_001317313.1:p.Gln127Pro NC_000019.10:15268947:T:G p.(Gln127Pro) NC_000019.10:15268947:T:G p.(Gln127Pro) NC_000019.10:15268947:T:G Identity +NM_001170690.3:c.697G>A NP_001164161.1:p.Asp233Asn NC_000011.10:9066759:C:T p.(Asp233Asn) NC_000011.10:9066759:C:T p.(Asp233Asn) NC_000011.10:9066759:C:T Identity +NM_173651.4:c.8030C>T NP_775922.3:p.Thr2677Ile NC_000002.12:185795165:C:T p.(Thr2677Ile) NC_000002.12:185795165:C:T p.(Thr2677Ile) NC_000002.12:185795165:C:T Identity +NM_001164165.2:c.995A>G NP_001157637.1:p.Asp332Gly NC_000002.12:53714482:T:C p.(Asp332Gly) NC_000002.12:53714482:T:C p.(Asp332Gly) NC_000002.12:53714482:T:C Identity +NM_001159293.2:c.937T>C NP_001152765.1:p.Tyr313His NC_000019.10:20545265:A:G p.(Tyr313His) NC_000019.10:20545265:A:G p.(Tyr313His) NC_000019.10:20545265:A:G Identity +NM_001198951.1:c.798T>A NP_001185880.1:p.Asn266Lys NC_000002.12:86605090:A:T p.(Asn266Lys) NC_000002.12:86605090:A:T p.(Asn266Lys) NC_000002.12:86605090:A:T Identity +NM_001100164.2:c.779C>G NP_001093634.1:p.Ala260Gly NC_000006.12:143765344:C:G p.(Ala260Gly) NC_000006.12:143765344:C:G p.(Ala260Gly) NC_000006.12:143765344:C:G Identity +NM_001365479.2:c.2476A>T NP_001352408.1:p.Met826Leu NC_000002.12:233511758:T:A p.(Met826Leu) NC_000002.12:233511758:T:A p.(Met826Leu) NC_000002.12:233511758:T:A Identity +NM_001378328.1:c.3445C>A NP_001365257.1:p.Arg1149Ser NC_000022.11:46533725:G:T p.(Arg1149Ser) NC_000022.11:46533725:G:T p.(Arg1149Ser) NC_000022.11:46533725:G:T Identity +NM_002725.4:c.990G>C NP_002716.1:p.Gln330His NC_000001.11:203486721:G:C p.(Gln330His) NC_000001.11:203486721:G:C p.(Gln330His) NC_000001.11:203486721:G:C Identity +NM_012081.6:c.704A>C NP_036213.2:p.Gln235Pro NC_000005.10:95906559:T:G p.(Gln235Pro) NC_000005.10:95906559:T:G p.(Gln235Pro) NC_000005.10:95906559:T:G Identity +NM_001362862.2:c.4703T>C NP_001349791.1:p.Ile1568Thr NC_000022.11:20727374:A:G p.(Ile1568Thr) NC_000022.11:20727374:A:G p.(Ile1568Thr) NC_000022.11:20727374:A:G Identity +NM_001144856.2:c.238G>A NP_001138328.1:p.Glu80Lys NC_000012.12:6313727:G:A p.(Glu80Lys) NC_000012.12:6313727:G:A p.(Glu80Lys) NC_000012.12:6313727:G:A Identity +NM_001031690.3:c.181A>T NP_001026860.2:p.Met61Leu NC_000007.14:143359412:T:A p.(Met61Leu) NC_000007.14:143359412:T:A p.(Met61Leu) NC_000007.14:143359412:T:A Identity +NM_001363423.2:c.1557G>C NP_001350352.1:p.Glu519Asp NC_000007.14:128806845:G:C p.(Glu519Asp) NC_000007.14:128806845:G:C p.(Glu519Asp) NC_000007.14:128806845:G:C Identity +NM_001267040.1:c.2485G>A NP_001253969.1:p.Val829Met NC_000006.12:15512255:G:A p.(Val829Met) NC_000006.12:15512255:G:A p.(Val829Met) NC_000006.12:15512255:G:A Identity +NM_000718.4:c.2533G>A NP_000709.1:p.Val845Ile NC_000009.12:138023275:G:A p.(Val845Ile) NC_000009.12:138023275:G:A p.(Val845Ile) NC_000009.12:138023275:G:A Identity +NM_001168360.1:c.3230G>C NP_001161832.1:p.Ser1077Thr NC_000023.11:92387819:G:C p.(Ser1077Thr) NC_000023.11:92387819:G:C p.(Ser1077Thr) NC_000023.11:92387819:G:C Identity +NM_001282290.2:c.354C>A NP_001269219.1:p.Ser118Arg NC_000017.11:45429925:G:T p.(Ser118Arg) NC_000017.11:45429925:G:T p.(Ser118Arg) NC_000017.11:45429925:G:T Identity +NM_001080976.3:c.1627G>A NP_001074445.1:p.Gly543Arg NC_000006.12:116436094:G:A p.(Gly543Arg) NC_000006.12:116436094:G:A p.(Gly543Arg) NC_000006.12:116436094:G:A Identity +NM_001330438.2:c.332C>T NP_001317367.1:p.Thr111Ile NC_000011.10:125911361:C:T p.(Thr111Ile) NC_000011.10:125911361:C:T p.(Thr111Ile) NC_000011.10:125911361:C:T Identity +NM_001330314.2:c.787A>G NP_001317243.1:p.Ile263Val NC_000002.12:113735803:T:C p.(Ile263Val) NC_000002.12:113735803:T:C p.(Ile263Val) NC_000002.12:113735803:T:C Identity +NM_001330741.2:c.398C>T NP_001317670.1:p.Ser133Leu NC_000001.11:159833312:C:T p.(Ser133Leu) NC_000001.11:159833312:C:T p.(Ser133Leu) NC_000001.11:159833312:C:T Identity +NM_001365116.2:c.1688G>A NP_001352045.1:p.Arg563Gln NC_000003.12:46995524:G:A p.(Arg563Gln) NC_000003.12:46995524:G:A p.(Arg563Gln) NC_000003.12:46995524:G:A Identity +NM_001003674.3:c.82T>C NP_001003674.1:p.Phe28Leu NC_000018.10:13621127:T:C p.(Phe28Leu) NC_000018.10:13621127:T:C p.(Phe28Leu) NC_000018.10:13621127:T:C Identity +NM_001321299.2:c.344C>G NP_001308228.1:p.Pro115Arg NC_000017.11:42785357:C:G p.(Pro115Arg) NC_000017.11:42785357:C:G p.(Pro115Arg) NC_000017.11:42785357:C:G Identity +NM_001130918.3:c.548G>A NP_001124390.1:p.Arg183His NC_000017.11:48801317:C:T p.(Arg183His) NC_000017.11:48801317:C:T p.(Arg183His) NC_000017.11:48801317:C:T Identity +NM_001282752.3:c.1590G>T NP_001269681.1:p.Glu530Asp NC_000002.12:20278781:C:A p.(Glu530Asp) NC_000002.12:20278781:C:A p.(Glu530Asp) NC_000002.12:20278781:C:A Identity +NM_001144060.2:c.1597G>A NP_001137532.1:p.Val533Met NC_000006.12:138432747:C:T p.(Val533Met) NC_000006.12:138432747:C:T p.(Val533Met) NC_000006.12:138432747:C:T Identity +NM_001144996.2:c.3145G>A NP_001138468.1:p.Val1049Ile NC_000012.12:55688020:C:T p.(Val1049Ile) NC_000012.12:55688020:C:T p.(Val1049Ile) NC_000012.12:55688020:C:T Identity +NM_015656.2:c.4871G>A NP_056471.1:p.Arg1624His NC_000014.9:104177658:G:A p.(Arg1624His) NC_000014.9:104177658:G:A p.(Arg1624His) NC_000014.9:104177658:G:A Identity +NM_001308230.2:c.1925C>T NP_001295159.1:p.Pro642Leu NC_000016.10:28833305:C:T p.(Pro642Leu) NC_000016.10:28833305:C:T p.(Pro642Leu) NC_000016.10:28833305:C:T Identity +NM_001256067.2:c.325G>A NP_001242996.1:p.Asp109Asn NC_000009.12:137428096:G:A p.(Asp109Asn) NC_000009.12:137428096:G:A p.(Asp109Asn) NC_000009.12:137428096:G:A Identity +NM_001018037.2:c.9332A>G NP_001018047.1:p.Asn3111Ser NC_000009.12:77407581:A:G p.(Asn3111Ser) NC_000009.12:77407581:A:G p.(Asn3111Ser) NC_000009.12:77407581:A:G Identity +NM_001350162.2:c.6988A>C NP_001337091.1:p.Ile2330Leu NC_000008.11:30843178:T:G p.(Ile2330Leu) NC_000008.11:30843178:T:G p.(Ile2330Leu) NC_000008.11:30843178:T:G Identity +NM_017647.4:c.1673G>A NP_060117.3:p.Arg558Gln NC_000017.11:63821566:C:T p.(Arg558Gln) NC_000017.11:63821566:C:T p.(Arg558Gln) NC_000017.11:63821566:C:T Identity +NM_000922.4:c.88G>C NP_000913.2:p.Gly30Arg NC_000011.10:14644162:G:C p.(Gly30Arg) NC_000011.10:14644162:G:C p.(Gly30Arg) NC_000011.10:14644162:G:C Identity +NM_001134473.3:c.1342C>T NP_001127945.1:p.Arg448Cys NC_000016.10:85661158:C:T p.(Arg448Cys) NC_000016.10:85661158:C:T p.(Arg448Cys) NC_000016.10:85661158:C:T Identity +NM_018672.5:c.3707C>T NP_061142.2:p.Ser1236Leu NC_000017.11:69259729:G:A p.(Ser1236Leu) NC_000017.11:69259729:G:A p.(Ser1236Leu) NC_000017.11:69259729:G:A Identity +NM_000627.4:c.3545G>A NP_000618.4:p.Arg1182Gln NC_000002.12:33364338:G:A p.(Arg1182Gln) NC_000002.12:33364338:G:A p.(Arg1182Gln) NC_000002.12:33364338:G:A Identity +NM_001128829.4:c.719T>C NP_001122301.1:p.Val240Ala NC_000008.11:85328626:A:G p.(Val240Ala) NC_000008.11:85328626:A:G p.(Val240Ala) NC_000008.11:85328626:A:G Identity +NM_004747.4:c.2771G>A NP_004738.3:p.Gly924Asp NC_000010.11:77821712:C:T p.(Gly924Asp) NC_000010.11:77821712:C:T p.(Gly924Asp) NC_000010.11:77821712:C:T Identity +NM_001190467.2:c.2033C>A NP_001177396.1:p.Pro678His NC_000019.10:7871210:G:T p.(Pro678His) NC_000019.10:7871210:G:T p.(Pro678His) NC_000019.10:7871210:G:T Identity +NM_001145961.2:c.340G>A NP_001139433.1:p.Glu114Lys NC_000016.10:67961576:C:T p.(Glu114Lys) NC_000016.10:67961576:C:T p.(Glu114Lys) NC_000016.10:67961576:C:T Identity +NM_004289.7:c.1793G>T NP_004280.5:p.Arg598Leu NC_000007.14:26185490:G:T p.(Arg598Leu) NC_000007.14:26185490:G:T p.(Arg598Leu) NC_000007.14:26185490:G:T Identity +NM_001005211.2:c.604T>C NP_001005211.1:p.Phe202Leu NC_000011.10:58118840:A:G p.(Phe202Leu) NC_000011.10:58118840:A:G p.(Phe202Leu) NC_000011.10:58118840:A:G Identity +NM_014208.3:c.3254G>A NP_055023.2:p.Ser1085Asn NC_000004.12:87615915:G:A p.(Ser1085Asn) NC_000004.12:87615915:G:A p.(Ser1085Asn) NC_000004.12:87615915:G:A Identity +NM_012285.3:c.2030G>A NP_036417.1:p.Arg677Gln NC_000017.11:42165503:C:T p.(Arg677Gln) NC_000017.11:42165503:C:T p.(Arg677Gln) NC_000017.11:42165503:C:T Identity +NM_152365.3:c.956G>A NP_689578.2:p.Arg319His NC_000001.11:26951424:C:T p.(Arg319His) NC_000001.11:26951424:C:T p.(Arg319His) NC_000001.11:26951424:C:T Identity +NM_001447.3:c.10000G>A NP_001438.1:p.Ala3334Thr NC_000005.10:151529203:C:T p.(Ala3334Thr) NC_000005.10:151529203:C:T p.(Ala3334Thr) NC_000005.10:151529203:C:T Identity +NM_001024674.3:c.176G>A NP_001019845.2:p.Arg59His NC_000014.9:74097836:G:A p.(Arg59His) NC_000014.9:74097836:G:A p.(Arg59His) NC_000014.9:74097836:G:A Identity +NM_001243270.2:c.1537A>G NP_001230199.1:p.Ile513Val NC_000011.10:100074250:A:G p.(Ile513Val) NC_000011.10:100074250:A:G p.(Ile513Val) NC_000011.10:100074250:A:G Identity +NM_213606.4:c.751C>T NP_998771.3:p.Arg251Trp NC_000010.11:89438880:G:A p.(Arg251Trp) NC_000010.11:89438880:G:A p.(Arg251Trp) NC_000010.11:89438880:G:A Identity +NM_001330221.2:c.1099G>A NP_001317150.1:p.Ala367Thr NC_000014.9:100141189:G:A p.(Ala367Thr) NC_000014.9:100141189:G:A p.(Ala367Thr) NC_000014.9:100141189:G:A Identity +NM_024573.3:c.259A>G NP_078849.1:p.Ile87Val NC_000006.12:151458438:A:G p.(Ile87Val) NC_000006.12:151458438:A:G p.(Ile87Val) NC_000006.12:151458438:A:G Identity +NM_207363.3:c.2836G>A NP_997246.2:p.Asp946Asn NC_000002.12:132783974:C:T p.(Asp946Asn) NC_000002.12:132783974:C:T p.(Asp946Asn) NC_000002.12:132783974:C:T Identity +NM_025040.4:c.1052G>A NP_079316.2:p.Gly351Asp NC_000019.10:52016545:C:T p.(Gly351Asp) NC_000019.10:52016545:C:T p.(Gly351Asp) NC_000019.10:52016545:C:T Identity +NM_001122834.4:c.626T>A NP_001116306.1:p.Phe209Tyr NC_000001.11:210404620:T:A p.(Phe209Tyr) NC_000001.11:210404620:T:A p.(Phe209Tyr) NC_000001.11:210404620:T:A Identity +NM_001124.3:c.430C>G NP_001115.1:p.Gln144Glu NC_000011.10:10306512:C:G p.(Gln144Glu) NC_000011.10:10306512:C:G p.(Gln144Glu) NC_000011.10:10306512:C:G Identity +NM_001136537.3:c.49G>A NP_001130009.1:p.Ala17Thr NC_000001.11:44808868:G:A p.(Ala17Thr) NC_000001.11:44808868:G:A p.(Ala17Thr) NC_000001.11:44808868:G:A Identity +NM_016050.5:c.460C>T NP_057134.1:p.Arg154Cys NC_000011.10:66437116:G:A p.(Arg154Cys) NC_000011.10:66437116:G:A p.(Arg154Cys) NC_000011.10:66437116:G:A Identity +NM_001291866.2:c.56A>G NP_001278795.1:p.His19Arg NC_000001.11:230178260:A:G p.(His19Arg) NC_000001.11:230178260:A:G p.(His19Arg) NC_000001.11:230178260:A:G Identity +NM_000833.5:c.1509del NP_000824.1:p.Gln503fs NC_000016.10:9840788:TT:T p.(Gln503HisfsTer48) NC_000016.10:9840788:TT:T p.(Gln503HisfsTer48) NC_000016.10:9840788:T: Analogous +NM_022092.3:c.2504C>T NP_071375.1:p.Pro835Leu NC_000016.10:796763:C:T p.(Pro835Leu) NC_000016.10:796763:C:T p.(Pro835Leu) NC_000016.10:796763:C:T Identity +NM_017575.5:c.1580C>T NP_060045.4:p.Pro527Leu NC_000017.11:2299172:G:A p.(Pro527Leu) NC_000017.11:2299172:G:A p.(Pro527Leu) NC_000017.11:2299172:G:A Identity +NM_001329998.2:c.8032C>G NP_001316927.1:p.Pro2678Ala NC_000003.12:36831550:G:C p.(Pro2678Ala) NC_000003.12:36831550:G:C p.(Pro2678Ala) NC_000003.12:36831550:G:C Identity +NM_001818.5:c.826C>T NP_001809.4:p.Arg276Trp NC_000010.11:5213138:C:T p.(Arg276Trp) NC_000010.11:5213138:C:T p.(Arg276Trp) NC_000010.11:5213138:C:T Identity +NM_001286173.2:c.1406T>C NP_001273102.1:p.Ile469Thr NC_000012.12:22484846:A:G p.(Ile469Thr) NC_000012.12:22484846:A:G p.(Ile469Thr) NC_000012.12:22484846:A:G Identity +NM_001128432.3:c.97G>A NP_001121904.1:p.Asp33Asn NC_000004.12:22736018:G:A p.(Asp33Asn) NW_025791774.1:57811:G:A p.(Asp33Asn) NC_000004.12:57811:G:A Identity +NM_001037872.3:c.2738A>G NP_001032961.1:p.Asn913Ser NC_000002.12:99405979:T:C p.(Asn913Ser) NC_000002.12:99405979:T:C p.(Asn913Ser) NC_000002.12:99405979:T:C Identity +NM_001366177.2:c.8314C>A NP_001353106.1:p.Pro2772Thr NC_000001.11:155342096:G:T p.(Pro2772Thr) NC_000001.11:155342096:G:T p.(Pro2772Thr) NC_000001.11:155342096:G:T Identity +NM_004327.4:c.2095A>G NP_004318.3:p.Met699Val NC_000022.11:23273753:A:G p.(Met699Val) NC_000022.11:23273753:A:G p.(Met699Val) NC_000022.11:23273753:A:G Identity +NM_001101362.3:c.340G>A NP_001094832.1:p.Ala114Thr NC_000015.10:65077154:G:A p.(Ala114Thr) NC_000015.10:65077154:G:A p.(Ala114Thr) NC_000015.10:65077154:G:A Identity +NM_031492.4:c.896A>G NP_113680.1:p.Tyr299Cys NC_000011.10:66668807:T:C p.(Tyr299Cys) NC_000011.10:66668807:T:C p.(Tyr299Cys) NC_000011.10:66668807:T:C Identity +NM_004119.3:c.1622A>G NP_004110.2:p.Asn541Ser NC_000013.11:28034382:T:C p.(Asn541Ser) NC_000013.11:28034382:T:C p.(Asn541Ser) NC_000013.11:28034382:T:C Identity +NM_001388405.1:c.1201C>T NP_001375334.1:p.Arg401Trp NC_000017.11:6118013:C:T p.(Arg401Trp) NC_000017.11:6118013:C:T p.(Arg401Trp) NC_000017.11:6118013:C:T Identity +NM_001321783.2:c.5011G>A NP_001308712.2:p.Val1671Ile NC_000010.11:5748431:G:A p.(Val1671Ile) NC_000010.11:5748431:G:A p.(Val1671Ile) NC_000010.11:5748431:G:A Identity +NM_001287499.2:c.1065C>G NP_001274428.1:p.Ser355Arg NC_000007.14:2589926:C:G p.(Ser355Arg) NC_000007.14:2589926:C:G p.(Ser355Arg) NC_000007.14:2589926:C:G Identity +NM_001286238.2:c.1195C>G NP_001273167.1:p.Leu399Val NC_000001.11:48305829:G:C p.(Leu399Val) NC_000001.11:48305829:G:C p.(Leu399Val) NC_000001.11:48305829:G:C Identity +NM_144629.3:c.374T>A NP_653230.2:p.Ile125Asn NC_000002.12:197644221:A:T p.(Ile125Asn) NC_000002.12:197644221:A:T p.(Ile125Asn) NC_000002.12:197644221:A:T Identity +NM_001286555.3:c.44G>A NP_001273484.1:p.Gly15Asp NC_000006.12:304649:G:A p.(Gly15Asp) NC_000006.12:304649:G:A p.(Gly15Asp) NC_000006.12:304649:G:A Identity +NM_001033113.2:c.938C>G NP_001028285.1:p.Pro313Arg NC_000009.12:137436124:G:C p.(Pro313Arg) NC_000009.12:137436124:G:C p.(Pro313Arg) NC_000009.12:137436124:G:C Identity +NM_001172557.2:c.2747C>A NP_001166028.1:p.Ala916Glu NC_000012.12:132789090:G:T p.(Ala916Glu) NC_000012.12:132789090:G:T p.(Ala916Glu) NC_000012.12:132789090:G:T Identity +NM_001112808.3:c.2564G>A NP_001106279.3:p.Gly855Glu NC_000001.11:74492175:G:A p.(Gly855Glu) NC_000001.11:74492175:G:A p.(Gly855Glu) NC_000001.11:74492175:G:A Identity +NM_001042784.1:c.2891A>G NP_001036249.1:p.Asp964Gly NC_000004.12:76331382:T:C p.(Asp964Gly) NC_000004.12:76331382:T:C p.(Asp964Gly) NC_000004.12:76331382:T:C Identity +NM_001304957.2:c.790G>A NP_001291886.1:p.Val264Ile NC_000012.12:123937263:C:T p.(Val264Ile) NC_000012.12:123937263:C:T p.(Val264Ile) NC_000012.12:123937263:C:T Identity +NM_001161841.2:c.116G>T NP_001155313.1:p.Arg39Leu NC_000020.11:47757247:C:A p.(Arg39Leu) NC_000020.11:47757247:C:A p.(Arg39Leu) NC_000020.11:47757247:C:A Identity +NM_001134335.2:c.1734G>T NP_001127807.1:p.Gln578His NC_000007.14:6026754:C:A p.(Gln578His) NC_000007.14:6026754:C:A p.(Gln578His) NC_000007.14:6026754:C:A Identity +NM_001320531.2:c.1609G>T NP_001307460.1:p.Val537Leu NC_000003.12:112217478:C:A p.(Val537Leu) NC_000003.12:112217478:C:A p.(Val537Leu) NC_000003.12:112217478:C:A Identity +NM_032246.6:c.983C>G NP_115622.2:p.Ala328Gly NC_000015.10:82043886:G:C p.(Ala328Gly) NC_000015.10:82043886:G:C p.(Ala328Gly) NC_000015.10:82043886:G:C Identity +NM_017818.4:c.119A>G NP_060288.3:p.Gln40Arg NC_000001.11:3647510:T:C p.(Gln40Arg) NC_000001.11:3647510:T:C p.(Gln40Arg) NC_000001.11:3647510:T:C Identity +NM_001320178.2:c.247A>G NP_001307107.1:p.Ile83Val NC_000001.11:40489114:A:G p.(Ile83Val) NC_000001.11:40489114:A:G p.(Ile83Val) NC_000001.11:40489114:A:G Identity +NM_001197122.2:c.487G>T NP_001184051.1:p.Ala163Ser NC_000019.10:49662538:C:A p.(Ala163Ser) NC_000019.10:49662538:C:A p.(Ala163Ser) NC_000019.10:49662538:C:A Identity +NM_001256014.2:c.320G>A NP_001242943.1:p.Cys107Tyr NC_000017.11:42573338:C:T p.(Cys107Tyr) NC_000017.11:42573338:C:T p.(Cys107Tyr) NC_000017.11:42573338:C:T Identity +NM_001004058.2:c.326T>C NP_001004058.2:p.Ile109Thr NC_000011.10:56159991:A:G p.(Ile109Thr) NC_000011.10:56159991:A:G p.(Ile109Thr) NC_000011.10:56159991:A:G Identity +NM_001172698.2:c.16T>C NP_001166169.1:p.Cys6Arg NC_000005.10:149730357:T:C p.(Cys6Arg) NC_000005.10:149730357:T:C p.(Cys6Arg) NC_000005.10:149730357:T:C Identity +NM_001080436.2:c.988G>A NP_001073905.1:p.Val330Met NC_000019.10:34493578:G:A p.(Val330Met) NC_000019.10:34493578:G:A p.(Val330Met) NC_000019.10:34493578:G:A Identity +NM_001321635.2:c.793T>C NP_001308564.1:p.Phe265Leu NC_000008.11:98203194:A:G p.(Phe265Leu) NC_000008.11:98203194:A:G p.(Phe265Leu) NC_000008.11:98203194:A:G Identity +NM_001317799.2:c.1308G>T NP_001304728.1:p.Gln436His NC_000004.12:122936132:G:T p.(Gln436His) NC_000004.12:122936132:G:T p.(Gln436His) NC_000004.12:122936132:G:T Identity +NM_001303249.3:c.26T>A NP_001290178.1:p.Phe9Tyr NC_000005.10:110739144:T:A p.(Phe9Tyr) NC_000005.10:110739144:T:A p.(Phe9Tyr) NC_000005.10:110739144:T:A Identity +NM_020981.4:c.388G>T NP_066191.1:p.Val130Leu NC_000002.12:167869426:G:T p.(Val130Leu) NC_000002.12:167869426:G:T p.(Val130Leu) NC_000002.12:167869426:G:T Identity +NM_001291586.2:c.101C>G NP_001278515.1:p.Ser34Cys NC_000017.11:43213141:C:G p.(Ser34Cys) NC_000017.11:43213141:C:G p.(Ser34Cys) NC_000017.11:43213141:C:G Identity +NM_003614.2:c.683G>A NP_003605.1:p.Arg228Lys NC_000022.11:37825045:G:A p.(Arg228Lys) NC_000022.11:37825045:G:A p.(Arg228Lys) NC_000022.11:37825045:G:A Identity +NM_001375484.1:c.830G>A NP_001362413.1:p.Gly277Asp NC_000015.10:43596484:G:A p.(Gly277Asp) NC_000015.10:43596484:G:A p.(Gly277Asp) NC_000015.10:43596484:G:A Identity +NM_001318006.2:c.382C>T NP_001304935.1:p.Leu128Phe NC_000017.11:738020:C:T p.(Leu128Phe) NC_000017.11:738020:C:T p.(Leu128Phe) NC_000017.11:738020:C:T Identity +NM_001405664.1:c.1235C>A NP_001392593.1:p.Pro412His NC_000016.10:2000477:G:T p.(Pro412His) NC_000016.10:2000477:G:T p.(Pro412His) NC_000016.10:2000477:G:T Identity +NM_005109.3:c.1517G>A NP_005100.1:p.Gly506Asp NC_000003.12:38252823:G:A p.(Gly506Asp) NC_000003.12:38252823:G:A p.(Gly506Asp) NC_000003.12:38252823:G:A Identity +NM_018036.7:c.4630C>T NP_060506.6:p.Pro1544Ser NC_000014.9:96305691:G:A p.(Pro1544Ser) NC_000014.9:96305691:G:A p.(Pro1544Ser) NC_000014.9:96305691:G:A Identity +NM_001142641.2:c.1219G>A NP_001136113.1:p.Glu407Lys NC_000012.12:132571311:G:A p.(Glu407Lys) NC_000012.12:132571311:G:A p.(Glu407Lys) NC_000012.12:132571311:G:A Identity +NM_001242312.2:c.873A>C NP_001229241.1:p.Arg291Ser NC_000013.11:51280487:A:C p.(Arg291Ser) NC_000013.11:51280487:A:C p.(Arg291Ser) NC_000013.11:51280487:A:C Identity +NM_001349370.3:c.6026C>T NP_001336299.1:p.Ala2009Val NC_000003.12:47062297:G:A p.(Ala2009Val) NC_000003.12:47062297:G:A p.(Ala2009Val) NC_000003.12:47062297:G:A Identity +NM_001350174.1:c.1814A>G NP_001337103.1:p.Lys605Arg NC_000001.11:109491280:A:G p.(Lys605Arg) NC_000001.11:109491280:A:G p.(Lys605Arg) NC_000001.11:109491280:A:G Identity +NM_001105570.2:c.812C>T NP_001099040.1:p.Ala271Val NC_000019.10:32709281:C:T p.(Ala271Val) NC_000019.10:32709281:C:T p.(Ala271Val) NC_000019.10:32709281:C:T Identity +NM_012363.1:c.811G>T NP_036495.1:p.Ala271Ser NC_000009.12:122526482:C:A p.(Ala271Ser) NC_000009.12:122526482:C:A p.(Ala271Ser) NC_000009.12:122526482:C:A Identity +NM_006843.3:c.421A>C NP_006834.2:p.Ile141Leu NC_000012.12:113398518:T:G p.(Ile141Leu) NC_000012.12:113398518:T:G p.(Ile141Leu) NC_000012.12:113398518:T:G Identity +NM_001080392.2:c.1033G>A NP_001073861.1:p.Asp345Asn NC_000007.14:141664973:C:T p.(Asp345Asn) NC_000007.14:141664973:C:T p.(Asp345Asn) NC_000007.14:141664973:C:T Identity +NM_001206696.2:c.322C>T NP_001193625.1:p.Pro108Ser NC_000001.11:209792328:G:A p.(Pro108Ser) NC_000001.11:209792328:G:A p.(Pro108Ser) NC_000001.11:209792328:G:A Identity +NM_002211.4:c.2185A>T NP_002202.2:p.Ile729Phe NC_000010.11:32908513:T:A p.(Ile729Phe) NC_000010.11:32908513:T:A p.(Ile729Phe) NC_000010.11:32908513:T:A Identity +NM_001289032.2:c.822G>C NP_001275961.1:p.Glu274Asp NC_000014.9:94567030:G:C p.(Glu274Asp) NC_000014.9:94567030:G:C p.(Glu274Asp) NC_000014.9:94567030:G:C Identity +NM_001159531.2:c.1184C>A NP_001153003.1:p.Pro395Gln NC_000014.9:100538566:G:T p.(Pro395Gln) NC_000014.9:100538566:G:T p.(Pro395Gln) NC_000014.9:100538566:G:T Identity +NM_006738.6:c.1195A>G NP_006729.4:p.Ser399Gly NC_000015.10:85579262:A:G p.(Ser399Gly) NC_000015.10:85579262:A:G p.(Ser399Gly) NC_000015.10:85579262:A:G Identity +NM_002471.4:c.5581A>G NP_002462.2:p.Lys1861Glu NC_000014.9:23383304:T:C p.(Lys1861Glu) NC_000014.9:23383304:T:C p.(Lys1861Glu) NC_000014.9:23383304:T:C Identity +NM_001347.4:c.817G>A NP_001338.2:p.Gly273Arg NC_000004.12:967796:C:T p.(Gly273Arg) NC_000004.12:967796:C:T p.(Gly273Arg) NC_000004.12:967796:C:T Identity +NM_004055.5:c.1676C>T NP_004046.2:p.Thr559Ile NC_000011.10:77122647:C:T p.(Thr559Ile) NC_000011.10:77122647:C:T p.(Thr559Ile) NC_000011.10:77122647:C:T Identity +NM_001306089.2:c.4502A>G NP_001293018.1:p.Asn1501Ser NC_000018.10:76928013:A:G p.(Asn1501Ser) NC_000018.10:76928013:A:G p.(Asn1501Ser) NC_000018.10:76928013:A:G Identity +NM_001023563.4:c.812A>G NP_001018857.2:p.Lys271Arg NC_000019.10:57253630:A:G p.(Lys271Arg) NC_000019.10:57253630:A:G p.(Lys271Arg) NC_000019.10:57253630:A:G Identity +NM_013432.5:c.1043G>A NP_038460.4:p.Gly348Asp NC_000008.11:144440838:C:T p.(Gly348Asp) NC_000008.11:144440838:C:T p.(Gly348Asp) NC_000008.11:144440838:C:T Identity +NM_001243738.2:c.460C>A NP_001230667.1:p.Pro154Thr NC_000006.12:33296089:G:T p.(Pro154Thr) NC_000006.12:33296089:G:T p.(Pro154Thr) NC_000006.12:33296089:G:T Identity +NM_001351369.2:c.91G>A NP_001338298.1:p.Glu31Lys NC_000003.12:183715252:G:A p.(Glu31Lys) NC_000003.12:183715252:G:A p.(Glu31Lys) NC_000003.12:183715252:G:A Identity +NM_198581.3:c.871C>A NP_940983.2:p.Gln291Lys NC_000002.12:112317226:C:A p.(Gln291Lys) NC_000002.12:112317226:C:A p.(Gln291Lys) NC_000002.12:112317226:C:A Identity +NM_001172631.3:c.2935G>A NP_001166102.1:p.Glu979Lys NC_000014.9:102445806:G:A p.(Glu979Lys) NC_000014.9:102445806:G:A p.(Glu979Lys) NC_000014.9:102445806:G:A Identity +NM_001304787.2:c.524C>T NP_001291716.1:p.Pro175Leu NC_000020.11:58467355:G:A p.(Pro175Leu) NC_000020.11:58467355:G:A p.(Pro175Leu) NC_000020.11:58467355:G:A Identity +NM_001411015.1:c.494G>A NP_001397944.1:p.Arg165Gln NC_000016.10:3285164:G:A p.(Arg165Gln) NC_000016.10:3285164:G:A p.(Arg165Gln) NC_000016.10:3285164:G:A Identity +NM_001300781.2:c.469G>T NP_001287710.1:p.Ala157Ser NC_000004.12:185020511:G:T p.(Ala157Ser) NC_000004.12:185020511:G:T p.(Ala157Ser) NC_000004.12:185020511:G:T Identity +NM_001363774.2:c.1036A>G NP_001350703.1:p.Ile346Val NC_000019.10:12350341:T:C p.(Ile346Val) NC_000019.10:12350341:T:C p.(Ile346Val) NC_000019.10:12350341:T:C Identity +NM_001289164.3:c.1541A>G NP_001276093.1:p.Glu514Gly NC_000002.12:74534199:T:C p.(Glu514Gly) NC_000002.12:74534199:T:C p.(Glu514Gly) NC_000002.12:74534199:T:C Identity +NM_001271606.2:c.400G>A NP_001258535.1:p.Ala134Thr NC_000005.10:17275615:G:A p.(Ala134Thr) NC_000005.10:17275615:G:A p.(Ala134Thr) NC_000005.10:17275615:G:A Identity +NM_001304275.2:c.158C>T NP_001291204.1:p.Pro53Leu NC_000009.12:131650852:G:A p.(Pro53Leu) NC_000009.12:131650852:G:A p.(Pro53Leu) NC_000009.12:131650852:G:A Identity +NM_007196.4:c.10C>A NP_009127.1:p.Pro4Thr NC_000019.10:51001157:G:T p.(Pro4Thr) NC_000019.10:51001157:G:T p.(Pro4Thr) NC_000019.10:51001157:G:T Identity +NM_001270695.1:c.1768A>G NP_001257624.1:p.Ile590Val NC_000010.11:31814309:T:C p.(Ile590Val) NC_000010.11:31814309:T:C p.(Ile590Val) NC_000010.11:31814309:T:C Identity +NM_001413831.1:c.2328G>T NP_001400760.1:p.Arg776Ser NC_000012.12:15623220:C:A p.(Arg776Ser) NC_000012.12:15623220:C:A p.(Arg776Ser) NC_000012.12:15623220:C:A Identity +NM_015362.5:c.157C>T NP_056177.4:p.Arg53Cys NC_000017.11:7252966:C:T p.(Arg53Cys) NC_000017.11:7252966:C:T p.(Arg53Cys) NC_000017.11:7252966:C:T Identity +NM_019028.3:c.352A>T NP_061901.2:p.Thr118Ser NC_000011.10:19147650:A:T p.(Thr118Ser) NC_000011.10:19147650:A:T p.(Thr118Ser) NC_000011.10:19147650:A:T Identity +NM_001286734.2:c.5164A>G NP_001273663.1:p.Lys1722Glu NC_000004.12:103143312:T:C p.(Lys1722Glu) NC_000004.12:103143312:T:C p.(Lys1722Glu) NC_000004.12:103143312:T:C Identity +NM_000552.5:c.4912G>C NP_000543.3:p.Glu1638Gln NC_000012.12:6018505:C:G p.(Glu1638Gln) NC_000012.12:6018505:C:G p.(Glu1638Gln) NC_000012.12:6018505:C:G Identity +NM_002458.3:c.7220T>C NP_002449.2:p.Phe2407Ser NC_000011.10:1244099:T:C p.(Phe2407Ser) NC_000011.10:1244099:T:C p.(Phe2407Ser) NC_000011.10:1244099:T:C Identity +NM_033054.3:c.476C>G NP_149043.2:p.Ser159Cys NC_000007.14:44975571:G:C p.(Ser159Cys) NC_000007.14:44975571:G:C p.(Ser159Cys) NC_000007.14:44975571:G:C Identity +NM_001204698.2:c.280C>A NP_001191627.1:p.Gln94Lys NC_000017.11:3663764:G:T p.(Gln94Lys) NC_000017.11:3663764:G:T p.(Gln94Lys) NC_000017.11:3663764:G:T Identity +NM_001271938.2:c.6398G>A NP_001258867.1:p.Arg2133His NC_000019.10:42368578:G:A p.(Arg2133His) NC_000019.10:42368578:G:A p.(Arg2133His) NC_000019.10:42368578:G:A Identity +NM_001113755.3:c.491T>A NP_001107227.1:p.Phe164Tyr NC_000022.11:50528536:A:T p.(Phe164Tyr) NC_000022.11:50528536:A:T p.(Phe164Tyr) NC_000022.11:50528536:A:T Identity +NM_001171091.2:c.779G>A NP_001164562.1:p.Arg260Gln NC_000019.10:4446395:C:T p.(Arg260Gln) NC_000019.10:4446395:C:T p.(Arg260Gln) NC_000019.10:4446395:C:T Identity +NM_001037666.3:c.814C>T NP_001032755.1:p.Pro272Ser NC_000022.11:30286027:G:A p.(Pro272Ser) NC_000022.11:30286027:G:A p.(Pro272Ser) NC_000022.11:30286027:G:A Identity +NM_014708.6:c.2476G>T NP_055523.1:p.Asp826Tyr NC_000012.12:122575635:G:T p.(Asp826Tyr) NC_000012.12:122575635:G:T p.(Asp826Tyr) NC_000012.12:122575635:G:T Identity +NM_004967.4:c.580G>A NP_004958.2:p.Gly194Arg NC_000004.12:87811535:G:A p.(Gly194Arg) NC_000004.12:87811535:G:A p.(Gly194Arg) NC_000004.12:87811535:G:A Identity +NM_001252156.2:c.343T>G NP_001239085.1:p.Leu115Val NC_000005.10:154936006:A:C p.(Leu115Val) NC_000005.10:154936006:A:C p.(Leu115Val) NC_000005.10:154936006:A:C Identity +NM_001161661.2:c.2807G>A NP_001155133.1:p.Ser936Asn NC_000005.10:168455503:G:A p.(Ser936Asn) NC_000005.10:168455503:G:A p.(Ser936Asn) NC_000005.10:168455503:G:A Identity +NM_001242767.2:c.2288T>C NP_001229696.1:p.Leu763Pro NC_000006.12:151013797:T:C p.(Leu763Pro) NC_000006.12:151013797:T:C p.(Leu763Pro) NC_000006.12:151013797:T:C Identity +NM_001130960.2:c.1001G>C NP_001124432.1:p.Arg334Pro NC_000003.12:155564946:C:G p.(Arg334Pro) NC_000003.12:155564946:C:G p.(Arg334Pro) NC_000003.12:155564946:C:G Identity +NM_001304771.1:c.601A>T NP_001291700.1:p.Thr201Ser NC_000016.10:19872637:T:A p.(Thr201Ser) NC_000016.10:19872637:T:A p.(Thr201Ser) NC_000016.10:19872637:T:A Identity +NM_001005190.2:c.322G>A NP_001005190.1:p.Val108Ile NC_000019.10:14841555:C:T p.(Val108Ile) NC_000019.10:14841555:C:T p.(Val108Ile) NC_000019.10:14841555:C:T Identity +NM_001198695.2:c.476T>C NP_001185624.1:p.Phe159Ser NC_000017.11:19385214:A:G p.(Phe159Ser) NC_000017.11:19385214:A:G p.(Phe159Ser) NC_000017.11:19385214:A:G Identity +NM_014272.5:c.68C>A NP_055087.2:p.Ala23Asp NC_000015.10:78811152:G:T p.(Ala23Asp) NC_000015.10:78811152:G:T p.(Ala23Asp) NC_000015.10:78811152:G:T Identity +NM_007113.4:c.1723C>A NP_009044.2:p.Arg575Ser NC_000001.11:152111493:G:T p.(Arg575Ser) NC_000001.11:152111493:G:T p.(Arg575Ser) NC_000001.11:152111493:G:T Identity +NM_001040114.2:c.5868A>C NP_001035203.1:p.Glu1956Asp NC_000016.10:15704062:T:G p.(Glu1956Asp) NC_000016.10:15704062:T:G p.(Glu1956Asp) NC_000016.10:15704062:T:G Identity +NM_001321264.3:c.127C>G NP_001308193.1:p.Leu43Val NC_000017.11:74785562:C:G p.(Leu43Val) NC_000017.11:74785562:C:G p.(Leu43Val) NC_000017.11:74785562:C:G Identity +NM_001320759.2:c.1417C>A NP_001307688.1:p.Leu473Ile NC_000017.11:18285415:G:T p.(Leu473Ile) NC_000017.11:18285415:G:T p.(Leu473Ile) NC_000017.11:18285415:G:T Identity +NM_001204760.2:c.796G>C NP_001191689.1:p.Glu266Gln NC_000004.12:166003553:G:C p.(Glu266Gln) NC_000004.12:166003553:G:C p.(Glu266Gln) NC_000004.12:166003553:G:C Identity +NM_001039580.2:c.292A>G NP_001034669.1:p.Asn98Asp NC_000004.12:155373324:T:C p.(Asn98Asp) NC_000004.12:155373324:T:C p.(Asn98Asp) NC_000004.12:155373324:T:C Identity +NM_016248.4:c.406C>G NP_057332.1:p.Leu136Val NC_000013.11:42298586:C:G p.(Leu136Val) NC_000013.11:42298586:C:G p.(Leu136Val) NC_000013.11:42298586:C:G Identity +NM_001166222.2:c.1993G>A NP_001159694.1:p.Val665Met NC_000011.10:67423740:G:A p.(Val665Met) NC_000011.10:67423740:G:A p.(Val665Met) NC_000011.10:67423740:G:A Identity +NM_001271593.2:c.817A>C NP_001258522.1:p.Lys273Gln NC_000011.10:74239238:A:C p.(Lys273Gln) NC_000011.10:74239238:A:C p.(Lys273Gln) NC_000011.10:74239238:A:C Identity +NM_001704.3:c.2323C>G NP_001695.2:p.Pro775Ala NC_000006.12:69049335:C:G p.(Pro775Ala) NC_000006.12:69049335:C:G p.(Pro775Ala) NC_000006.12:69049335:C:G Identity +NM_030771.2:c.154T>C NP_110398.1:p.Ser52Pro NC_000011.10:27363040:A:G p.(Ser52Pro) NC_000011.10:27363040:A:G p.(Ser52Pro) NC_000011.10:27363040:A:G Identity +NM_001143978.3:c.512A>C NP_001137450.1:p.Asn171Thr NC_000023.11:104114622:A:C p.(Asn171Thr) NC_000023.11:104114622:A:C p.(Asn171Thr) NC_000023.11:104114622:A:C Identity +NM_001318809.2:c.211C>T NP_001305738.1:p.His71Tyr NC_000006.12:13321077:G:A p.(His71Tyr) NC_000006.12:13321077:G:A p.(His71Tyr) NC_000006.12:13321077:G:A Identity +NM_007191.5:c.1078A>G NP_009122.2:p.Thr360Ala NC_000012.12:65051410:T:C p.(Thr360Ala) NC_000012.12:65051410:T:C p.(Thr360Ala) NC_000012.12:65051410:T:C Identity +NM_000561.4:c.20A>G NP_000552.2:p.Tyr7Cys NC_000001.11:109687892:A:G p.(Tyr7Cys) NC_000001.11:109687892:A:G p.(Tyr7Cys) NC_000001.11:109687892:A:G Identity +NM_052951.3:c.598C>G NP_443183.1:p.Pro200Ala NC_000020.11:45803372:C:G p.(Pro200Ala) NC_000020.11:45803372:C:G p.(Pro200Ala) NC_000020.11:45803372:C:G Identity +NM_014663.3:c.880C>T NP_055478.2:p.Arg294Cys NC_000001.11:43667055:C:T p.(Arg294Cys) NC_000001.11:43667055:C:T p.(Arg294Cys) NC_000001.11:43667055:C:T Identity +NM_001134655.2:c.844A>G NP_001128127.1:p.Ser282Gly NC_000016.10:3140810:A:G p.(Ser282Gly) NC_000016.10:3140810:A:G p.(Ser282Gly) NC_000016.10:3140810:A:G Identity +NM_024940.8:c.2413C>A NP_079216.4:p.Pro805Thr NC_000008.11:25340961:C:A p.(Pro805Thr) NC_000008.11:25340961:C:A p.(Pro805Thr) NC_000008.11:25340961:C:A Identity +NM_003493.3:c.11C>G NP_003484.1:p.Thr4Ser NC_000001.11:228425314:G:C p.(Thr4Ser) NC_000001.11:228425314:G:C p.(Thr4Ser) NC_000001.11:228425314:G:C Identity +NM_020870.4:c.578C>A NP_065921.2:p.Pro193Gln NC_000004.12:169156494:G:T p.(Pro193Gln) NC_000004.12:169156494:G:T p.(Pro193Gln) NC_000004.12:169156494:G:T Identity +NM_001164281.3:c.875C>T NP_001157753.1:p.Pro292Leu NC_000006.12:111580343:G:A p.(Pro292Leu) NC_000006.12:111580343:G:A p.(Pro292Leu) NC_000006.12:111580343:G:A Identity +NM_025040.4:c.1034G>A NP_079316.2:p.Cys345Tyr NC_000019.10:52016563:C:T p.(Cys345Tyr) NC_000019.10:52016563:C:T p.(Cys345Tyr) NC_000019.10:52016563:C:T Identity +NM_001114748.2:c.367C>T NP_001108220.1:p.Arg123Cys NC_000001.11:1535594:G:A p.(Arg123Cys) NC_000001.11:1535594:G:A p.(Arg123Cys) NC_000001.11:1535594:G:A Identity +NM_001080409.3:c.1923A>G NP_001073878.2:p.Ile641Met NC_000019.10:22757985:T:C p.(Ile641Met) NC_000019.10:22757985:T:C p.(Ile641Met) NC_000019.10:22757985:T:C Identity +NM_001098784.2:c.454G>A NP_001092254.1:p.Gly152Arg NC_000011.10:65573514:G:A p.(Gly152Arg) NC_000011.10:65573514:G:A p.(Gly152Arg) NC_000011.10:65573514:G:A Identity +NM_001144881.2:c.1762C>G NP_001138353.1:p.Leu588Val NC_000012.12:42460542:G:C p.(Leu588Val) NC_000012.12:42460542:G:C p.(Leu588Val) NC_000012.12:42460542:G:C Identity +NM_014203.3:c.1468C>T NP_055018.2:p.Pro490Ser NC_000019.10:49800972:C:T p.(Pro490Ser) NC_000019.10:49800972:C:T p.(Pro490Ser) NC_000019.10:49800972:C:T Identity +NM_000038.6:c.4555_4556del NP_000029.2:p.Asp1519fs NC_000005.10:112840147:AGA:A p.(Asp1519CysfsTer13) NC_000005.10:112840147:AGA:A p.(Asp1519CysfsTer13) NC_000005.10:112840148:GA: Analogous +NM_001206957.2:c.527G>A NP_001193886.1:p.Arg176His NC_000003.12:50330623:C:T p.(Arg176His) NC_000003.12:50330623:C:T p.(Arg176His) NC_000003.12:50330623:C:T Identity +NM_002282.3:c.874A>G NP_002273.3:p.Thr292Ala NC_000012.12:52316899:T:C p.(Thr292Ala) NC_000012.12:52316899:T:C p.(Thr292Ala) NC_000012.12:52316899:T:C Identity +NM_152718.2:c.2776T>C NP_689931.2:p.Ser926Pro NC_000011.10:61258766:A:G p.(Ser926Pro) NC_000011.10:61258766:A:G p.(Ser926Pro) NC_000011.10:61258766:A:G Identity +NM_001271711.2:c.758T>A NP_001258640.1:p.Ile253Asn NC_000009.12:127403693:T:A p.(Ile253Asn) NC_000009.12:127403693:T:A p.(Ile253Asn) NC_000009.12:127403693:T:A Identity +NM_001282761.2:c.526C>T NP_001269690.1:p.His176Tyr NC_000002.12:55533925:C:T p.(His176Tyr) NC_000002.12:55533925:C:T p.(His176Tyr) NC_000002.12:55533925:C:T Identity +NM_004839.4:c.587G>C NP_004830.2:p.Ser196Thr NC_000015.10:82854707:C:G p.(Ser196Thr) NC_000015.10:82854707:C:G p.(Ser196Thr) NC_000015.10:82854707:C:G Identity +NM_001304360.2:c.2090A>C NP_001291289.1:p.Glu697Ala NC_000001.11:1955776:T:G p.(Glu697Ala) NC_000001.11:1955776:T:G p.(Glu697Ala) NC_000001.11:1955776:T:G Identity +NM_001268.4:c.1565T>A NP_001259.1:p.Val522Glu NC_000013.11:48490201:A:T p.(Val522Glu) NC_000013.11:48490201:A:T p.(Val522Glu) NC_000013.11:48490201:A:T Identity +NM_001134473.3:c.1987G>A NP_001127945.1:p.Asp663Asn NC_000016.10:85663018:G:A p.(Asp663Asn) NC_000016.10:85663018:G:A p.(Asp663Asn) NC_000016.10:85663018:G:A Identity +NM_005893.3:c.151C>T NP_005884.2:p.Pro51Ser NC_000009.12:36169652:C:T p.(Pro51Ser) NC_000009.12:36169652:C:T p.(Pro51Ser) NC_000009.12:36169652:C:T Identity +NM_031485.4:c.1108G>C NP_113673.3:p.Ala370Pro NC_000019.10:48452791:G:C p.(Ala370Pro) NC_000019.10:48452791:G:C p.(Ala370Pro) NC_000019.10:48452791:G:C Identity +NM_001134656.2:c.67C>T NP_001128128.1:p.Pro23Ser NC_000003.12:42906417:C:T p.(Pro23Ser) NC_000003.12:42906417:C:T p.(Pro23Ser) NC_000003.12:42906417:C:T Identity +NM_001278657.2:c.760A>T NP_001265586.1:p.Thr254Ser NC_000022.11:42596289:T:A p.(Thr254Ser) NC_000022.11:42596289:T:A p.(Thr254Ser) NC_000022.11:42596289:T:A Identity +NM_000444.6:c.626C>G NP_000435.3:p.Ser209Cys NC_000023.11:22077664:C:G p.(Ser209Cys) NC_000023.11:22077664:C:G p.(Ser209Cys) NC_000023.11:22077664:C:G Identity +NM_032951.3:c.1091G>T NP_116569.1:p.Gly364Val NC_000007.14:73597693:C:A p.(Gly364Val) NC_000007.14:73597693:C:A p.(Gly364Val) NC_000007.14:73597693:C:A Identity +NM_001282546.2:c.346G>A NP_001269475.1:p.Gly116Ser NC_000001.11:36358249:C:T p.(Gly116Ser) NC_000001.11:36358249:C:T p.(Gly116Ser) NC_000001.11:36358249:C:T Identity +NM_018912.3:c.1421T>C NP_061735.1:p.Val474Ala NC_000005.10:141332104:T:C p.(Val474Ala) NC_000005.10:141332104:T:C p.(Val474Ala) NC_000005.10:141332104:T:C Identity +NM_016304.3:c.16T>C NP_057388.1:p.Cys6Arg NC_000015.10:55196874:A:G p.(Cys6Arg) NC_000015.10:55196874:A:G p.(Cys6Arg) NC_000015.10:55196874:A:G Identity +NM_152744.4:c.1544G>C NP_689957.3:p.Arg515Thr NC_000007.14:3967431:G:C p.(Arg515Thr) NC_000007.14:3967431:G:C p.(Arg515Thr) NC_000007.14:3967431:G:C Identity +NM_020754.4:c.3786A>C NP_065805.2:p.Lys1262Asn NC_000003.12:119415714:A:C p.(Lys1262Asn) NC_000003.12:119415714:A:C p.(Lys1262Asn) NC_000003.12:119415714:A:C Identity +NM_003906.5:c.816G>C NP_003897.2:p.Gln272His NC_000021.9:46284470:C:G p.(Gln272His) NC_000021.9:46284470:C:G p.(Gln272His) NC_000021.9:46284470:C:G Identity +NM_001198868.2:c.682C>T NP_001185797.1:p.Arg228Cys NC_000011.10:65186260:C:T p.(Arg228Cys) NC_000011.10:65186260:C:T p.(Arg228Cys) NC_000011.10:65186260:C:T Identity +NM_024654.5:c.2014C>G NP_078930.4:p.Pro672Ala NC_000001.11:6525948:G:C p.(Pro672Ala) NC_000001.11:6525948:G:C p.(Pro672Ala) NC_000001.11:6525948:G:C Identity +NM_001318134.2:c.226A>G NP_001305063.1:p.Thr76Ala NC_000004.12:904698:T:C p.(Thr76Ala) NC_000004.12:904698:T:C p.(Thr76Ala) NC_000004.12:904698:T:C Identity +NM_001193421.2:c.1210A>C NP_001180350.1:p.Lys404Gln NC_000020.11:53254676:A:C p.(Lys404Gln) NC_000020.11:53254676:A:C p.(Lys404Gln) NC_000020.11:53254676:A:C Identity +NM_001008844.3:c.5500T>A NP_001008844.1:p.Cys1834Ser NC_000006.12:7584558:T:A p.(Cys1834Ser) NC_000006.12:7584558:T:A p.(Cys1834Ser) NC_000006.12:7584558:T:A Identity +NM_001367600.2:c.1273G>A NP_001354529.1:p.Ala425Thr NC_000007.14:22145047:C:T p.(Ala425Thr) NC_000007.14:22145047:C:T p.(Ala425Thr) NC_000007.14:22145047:C:T Identity +NM_001370129.2:c.658A>G NP_001357058.1:p.Lys220Glu NC_000007.14:57120756:T:C p.(Lys220Glu) NC_000007.14:57120756:T:C p.(Lys220Glu) NC_000007.14:57120756:T:C Identity +NM_001207048.3:c.1010C>T NP_001193977.1:p.Thr337Ile NC_000011.10:117289761:G:A p.(Thr337Ile) NC_000011.10:117289761:G:A p.(Thr337Ile) NC_000011.10:117289761:G:A Identity +NM_001286734.2:c.2930G>A NP_001273663.1:p.Gly977Glu NC_000004.12:103158327:C:T p.(Gly977Glu) NC_000004.12:103158327:C:T p.(Gly977Glu) NC_000004.12:103158327:C:T Identity +NM_001317062.2:c.742G>A NP_001303991.1:p.Val248Ile NC_000001.11:111442710:C:T p.(Val248Ile) NC_000001.11:111442710:C:T p.(Val248Ile) NC_000001.11:111442710:C:T Identity +NM_001243313.2:c.1056C>G NP_001230242.1:p.Ser352Arg NC_000002.12:218679999:C:G p.(Ser352Arg) NC_000002.12:218679999:C:G p.(Ser352Arg) NC_000002.12:218679999:C:G Identity +NM_001278506.2:c.296T>G NP_001265435.1:p.Ile99Ser NC_000016.10:10752646:T:G p.(Ile99Ser) NC_000016.10:10752646:T:G p.(Ile99Ser) NC_000016.10:10752646:T:G Identity +NM_001364837.1:c.1979G>A NP_001351766.1:p.Gly660Asp NC_000014.9:64442147:G:A p.(Gly660Asp) NC_000014.9:64442147:G:A p.(Gly660Asp) NC_000014.9:64442147:G:A Identity +NM_001321057.1:c.3038T>C NP_001307986.1:p.Leu1013Pro NC_000019.10:55896038:A:G p.(Leu1013Pro) NC_000019.10:55896038:A:G p.(Leu1013Pro) NC_000019.10:55896038:A:G Identity +NM_000602.5:c.1160A>T NP_000593.1:p.His387Leu NC_000007.14:101137072:A:T p.(His387Leu) NC_000007.14:101137072:A:T p.(His387Leu) NC_000007.14:101137072:A:T Identity +NM_001285439.2:c.3128G>A NP_001272368.1:p.Ser1043Asn NC_000005.10:38950719:C:T p.(Ser1043Asn) NC_000005.10:38950719:C:T p.(Ser1043Asn) NC_000005.10:38950719:C:T Identity +NM_018901.4:c.1813T>A NP_061724.1:p.Trp605Arg NC_000005.10:140857860:T:A p.(Trp605Arg) NC_000005.10:140857860:T:A p.(Trp605Arg) NC_000005.10:140857860:T:A Identity +NM_001353684.2:c.1681C>A NP_001340613.1:p.Leu561Ile NC_000021.9:31120561:G:T p.(Leu561Ile) NC_000021.9:31120561:G:T p.(Leu561Ile) NC_000021.9:31120561:G:T Identity +NM_001363559.2:c.1420C>G NP_001350488.1:p.Leu474Val NC_000011.10:66334005:G:C p.(Leu474Val) NC_000011.10:66334005:G:C p.(Leu474Val) NC_000011.10:66334005:G:C Identity +NM_198149.3:c.551C>T NP_937792.2:p.Pro184Leu NC_000001.11:201891802:C:T p.(Pro184Leu) NC_000001.11:201891802:C:T p.(Pro184Leu) NC_000001.11:201891802:C:T Identity +NM_001323553.2:c.957T>A NP_001310482.1:p.Asp319Glu NC_000008.11:131970548:T:A p.(Asp319Glu) NC_000008.11:131970548:T:A p.(Asp319Glu) NC_000008.11:131970548:T:A Identity +NM_001184998.2:c.4721A>G NP_001171927.1:p.Asn1574Ser NC_000016.10:15600519:T:C p.(Asn1574Ser) NC_000016.10:15600519:T:C p.(Asn1574Ser) NC_000016.10:15600519:T:C Identity +NM_002015.4:c.1579C>T NP_002006.2:p.His527Tyr NC_000013.11:40559911:G:A p.(His527Tyr) NC_000013.11:40559911:G:A p.(His527Tyr) NC_000013.11:40559911:G:A Identity +NM_001018090.6:c.1524G>A NP_001018100.1:p.Lys508= NC_000015.10:57714549:G:A p.(Lys508=) NC_000015.10:57714549:G:A p.(Lys508=) NC_000015.10:57714549:G:A Identity +NM_003108.4:c.554C>A NP_003099.1:p.Ala185Glu NC_000002.12:5693274:C:A p.(Ala185Glu) NC_000002.12:5693274:C:A p.(Ala185Glu) NC_000002.12:5693274:C:A Identity +NM_014901.5:c.373C>G NP_055716.1:p.Gln125Glu NC_000005.10:176531554:G:C p.(Gln125Glu) NC_000005.10:176531554:G:C p.(Gln125Glu) NC_000005.10:176531554:G:C Identity +NM_001290261.2:c.644A>G NP_001277190.1:p.Gln215Arg NC_000020.11:25676643:T:C p.(Gln215Arg) NC_000020.11:25676643:T:C p.(Gln215Arg) NC_000020.11:25676643:T:C Identity +NM_001282290.2:c.2204G>A NP_001269219.1:p.Ser735Asn NC_000017.11:45396253:C:T p.(Ser735Asn) NC_000017.11:45396253:C:T p.(Ser735Asn) NC_000017.11:45396253:C:T Identity +NM_001038702.2:c.128C>T NP_001033791.1:p.Ser43Leu NC_000005.10:131385615:C:T p.(Ser43Leu) NC_000005.10:131385615:C:T p.(Ser43Leu) NC_000005.10:131385615:C:T Identity +NM_001077239.2:c.659A>G NP_001070707.1:p.Gln220Arg NC_000011.10:117239840:A:G p.(Gln220Arg) NC_000011.10:117239840:A:G p.(Gln220Arg) NC_000011.10:117239840:A:G Identity +NM_001144869.3:c.302C>T NP_001138341.1:p.Pro101Leu NC_000011.10:74493401:G:A p.(Pro101Leu) NC_000011.10:74493401:G:A p.(Pro101Leu) NC_000011.10:74493401:G:A Identity +NM_001127213.2:c.59C>T NP_001120685.1:p.Ser20Leu NC_000008.11:143021319:C:T p.(Ser20Leu) NC_000008.11:143021319:C:T p.(Ser20Leu) NC_000008.11:143021319:C:T Identity +NM_031217.4:c.289A>G NP_112494.3:p.Ile97Val NC_000011.10:28097658:T:C p.(Ile97Val) NC_000011.10:28097658:T:C p.(Ile97Val) NC_000011.10:28097658:T:C Identity +NM_003539.4:c.124G>A NP_003530.1:p.Gly42Ser NC_000006.12:26188952:C:T p.(Gly42Ser) NC_000006.12:26188952:C:T p.(Gly42Ser) NC_000006.12:26188952:C:T Identity +NM_001321675.2:c.1003G>A NP_001308604.1:p.Glu335Lys NC_000015.10:99363236:G:A p.(Glu335Lys) NC_000015.10:99363236:G:A p.(Glu335Lys) NC_000015.10:99363236:G:A Identity +NM_001145475.3:c.2026A>T NP_001138947.1:p.Ile676Leu NC_000012.12:50354805:T:A p.(Ile676Leu) NC_000012.12:50354805:T:A p.(Ile676Leu) NC_000012.12:50354805:T:A Identity +NM_001318809.2:c.284T>A NP_001305738.1:p.Val95Asp NC_000006.12:13321004:A:T p.(Val95Asp) NC_000006.12:13321004:A:T p.(Val95Asp) NC_000006.12:13321004:A:T Identity +NM_001354571.2:c.1039A>C NP_001341500.1:p.Ser347Arg NC_000003.12:186620861:A:C p.(Ser347Arg) NC_000003.12:186620861:A:C p.(Ser347Arg) NC_000003.12:186620861:A:C Identity +NM_001286074.2:c.1396T>C NP_001273003.2:p.Tyr466His NC_000023.11:71381777:T:C p.(Tyr466His) NC_000023.11:71381777:T:C p.(Tyr466His) NC_000023.11:71381777:T:C Identity +NM_175737.4:c.1804G>T NP_783864.1:p.Asp602Tyr NC_000004.12:39446529:G:T p.(Asp602Tyr) NC_000004.12:39446529:G:T p.(Asp602Tyr) NC_000004.12:39446529:G:T Identity +NM_016350.5:c.3999A>T NP_057434.4:p.Lys1333Asn NC_000014.9:50726006:T:A p.(Lys1333Asn) NC_000014.9:50726006:T:A p.(Lys1333Asn) NC_000014.9:50726006:T:A Identity +NM_001013257.2:c.622A>G NP_001013275.1:p.Thr208Ala NC_000019.10:44813457:A:G p.(Thr208Ala) NC_000019.10:44813457:A:G p.(Thr208Ala) NC_000019.10:44813457:A:G Identity +NM_032451.2:c.1456G>C NP_115827.1:p.Asp486His NC_000016.10:89859347:G:C p.(Asp486His) NC_000016.10:89859347:G:C p.(Asp486His) NC_000016.10:89859347:G:C Identity +NM_002207.3:c.2814G>A NP_002198.2:p.Met938Ile NC_000003.12:37785002:G:A p.(Met938Ile) NC_000003.12:37785002:G:A p.(Met938Ile) NC_000003.12:37785002:G:A Identity +NM_001280799.2:c.495C>A NP_001267728.1:p.His165Gln NC_000001.11:145874172:G:T p.(His165Gln) NC_000001.11:145874172:G:T p.(His165Gln) NC_000001.11:145874172:G:T Identity +NM_017590.6:c.1354G>T NP_060060.3:p.Asp452Tyr NC_000022.11:41343470:G:T p.(Asp452Tyr) NC_000022.11:41343470:G:T p.(Asp452Tyr) NC_000022.11:41343470:G:T Identity +NM_144699.4:c.1213G>A NP_653300.2:p.Val405Met NC_000001.11:160166692:G:A p.(Val405Met) NC_000001.11:160166692:G:A p.(Val405Met) NC_000001.11:160166692:G:A Identity +NM_001329137.2:c.1662G>T NP_001316066.1:p.Trp554Cys NC_000001.11:43591923:G:T p.(Trp554Cys) NC_000001.11:43591923:G:T p.(Trp554Cys) NC_000001.11:43591923:G:T Identity +NM_152613.3:c.700C>T NP_689826.2:p.Pro234Ser NC_000022.11:42026950:C:T p.(Pro234Ser) NC_000022.11:42026950:C:T p.(Pro234Ser) NC_000022.11:42026950:C:T Identity +NM_001242636.2:c.1686G>T NP_001229565.1:p.Leu562Phe NC_000005.10:55914852:G:T p.(Leu562Phe) NC_000005.10:55914852:G:T p.(Leu562Phe) NC_000005.10:55914852:G:T Identity +NM_001278657.2:c.136C>T NP_001265586.1:p.Arg46Cys NC_000022.11:42603083:G:A p.(Arg46Cys) NC_000022.11:42603083:G:A p.(Arg46Cys) NC_000022.11:42603083:G:A Identity +NM_153252.5:c.309G>C NP_694984.5:p.Gln103His NC_000023.11:80793643:C:G p.(Gln103His) NC_000023.11:80793643:C:G p.(Gln103His) NC_000023.11:80793643:C:G Identity +NM_032301.3:c.1235G>A NP_115677.2:p.Arg412Gln NC_000019.10:12689541:C:T p.(Arg412Gln) NC_000019.10:12689541:C:T p.(Arg412Gln) NC_000019.10:12689541:C:T Identity +NM_001163034.2:c.919A>G NP_001156506.1:p.Thr307Ala NC_000017.11:80822228:A:G p.(Thr307Ala) NC_000017.11:80822228:A:G p.(Thr307Ala) NC_000017.11:80822228:A:G Identity +NM_001305275.2:c.3094A>G NP_001292204.1:p.Arg1032Gly NC_000001.11:1046578:A:G p.(Arg1032Gly) NC_000001.11:1046578:A:G p.(Arg1032Gly) NC_000001.11:1046578:A:G Identity +NM_005858.4:c.393C>G NP_005849.1:p.Phe131Leu NC_000019.10:15373318:G:C p.(Phe131Leu) NC_000019.10:15373318:G:C p.(Phe131Leu) NC_000019.10:15373318:G:C Identity +NM_014867.3:c.439T>C NP_055682.1:p.Ser147Pro NC_000008.11:2001630:T:C p.(Ser147Pro) NC_000008.11:2001630:T:C p.(Ser147Pro) NC_000008.11:2001630:T:C Identity +NM_014643.4:c.2152C>T NP_055458.1:p.His718Tyr NC_000018.10:76379961:G:A p.(His718Tyr) NC_000018.10:76379961:G:A p.(His718Tyr) NC_000018.10:76379961:G:A Identity +NM_001258329.1:c.2215T>A NP_001245258.1:p.Phe739Ile NC_000020.11:36214389:T:A p.(Phe739Ile) NC_000020.11:36214389:T:A p.(Phe739Ile) NC_000020.11:36214389:T:A Identity +NM_006332.5:c.331G>A NP_006323.2:p.Gly111Ser NC_000019.10:18175325:G:A p.(Gly111Ser) NC_000019.10:18175325:G:A p.(Gly111Ser) NC_000019.10:18175325:G:A Identity +NM_017748.5:c.603C>G NP_060218.1:p.Ser201Arg NC_000017.11:38810490:G:C p.(Ser201Arg) NC_000017.11:38810490:G:C p.(Ser201Arg) NC_000017.11:38810490:G:C Identity +NM_001346738.2:c.424A>G NP_001333667.1:p.Lys142Glu NC_000001.11:235155053:T:C p.(Lys142Glu) NC_000001.11:235155053:T:C p.(Lys142Glu) NC_000001.11:235155053:T:C Identity +NM_001014437.3:c.2481T>G NP_001014437.1:p.Asn827Lys NC_000011.10:3001128:A:C p.(Asn827Lys) NC_000011.10:3001128:A:C p.(Asn827Lys) NC_000011.10:3001128:A:C Identity +NM_198578.4:c.3526A>G NP_940980.4:p.Thr1176Ala NC_000012.12:40302817:A:G p.(Thr1176Ala) NC_000012.12:40302817:A:G p.(Thr1176Ala) NC_000012.12:40302817:A:G Identity +NM_001198956.2:c.1481C>A NP_001185885.1:p.Thr494Asn NC_000001.11:168015882:C:A p.(Thr494Asn) NC_000001.11:168015882:C:A p.(Thr494Asn) NC_000001.11:168015882:C:A Identity +NM_175902.5:c.967C>A NP_787098.3:p.Leu323Met NC_000017.11:82394399:G:T p.(Leu323Met) NC_000017.11:82394399:G:T p.(Leu323Met) NC_000017.11:82394399:G:T Identity +NM_015909.4:c.6321T>G NP_056993.2:p.Ile2107Met NC_000002.12:15218883:A:C p.(Ile2107Met) NC_000002.12:15218883:A:C p.(Ile2107Met) NC_000002.12:15218883:A:C Identity +NM_001141917.2:c.3596A>C NP_001135389.1:p.His1199Pro NC_000009.12:34723643:T:G p.(His1199Pro) NC_000009.12:34723643:T:G p.(His1199Pro) NC_000009.12:34723643:T:G Identity +NM_001308147.2:c.1747A>G NP_001295076.1:p.Met583Val NC_000014.9:64741263:A:G p.(Met583Val) NC_000014.9:64741263:A:G p.(Met583Val) NC_000014.9:64741263:A:G Identity +NM_018933.4:c.389A>G NP_061756.1:p.His130Arg NC_000005.10:141214511:A:G p.(His130Arg) NC_000005.10:141214511:A:G p.(His130Arg) NC_000005.10:141214511:A:G Identity +NM_001163423.2:c.91A>C NP_001156895.1:p.Lys31Gln NC_000019.10:55642598:A:C p.(Lys31Gln) NC_000019.10:55642598:A:C p.(Lys31Gln) NC_000019.10:55642598:A:C Identity +NM_001251904.2:c.1188G>C NP_001238833.1:p.Leu396Phe NC_000012.12:105195331:C:G p.(Leu396Phe) NC_000012.12:105195331:C:G p.(Leu396Phe) NC_000012.12:105195331:C:G Identity +NM_152335.5:c.142G>A NP_689548.3:p.Asp48Asn NC_000015.10:76137833:G:A p.(Asp48Asn) NC_000015.10:76137833:G:A p.(Asp48Asn) NC_000015.10:76137833:G:A Identity +NM_025158.5:c.232T>C NP_079434.3:p.Ser78Pro NC_000005.10:179550800:T:C p.(Ser78Pro) NC_000005.10:179550800:T:C p.(Ser78Pro) NC_000005.10:179550800:T:C Identity +NM_199420.4:c.5718C>G NP_955452.3:p.Cys1906Trp NC_000003.12:121485095:G:C p.(Cys1906Trp) NC_000003.12:121485095:G:C p.(Cys1906Trp) NC_000003.12:121485095:G:C Identity +NM_007118.4:c.5251G>T NP_009049.2:p.Ala1751Ser NC_000005.10:14461065:G:T p.(Ala1751Ser) NC_000005.10:14461065:G:T p.(Ala1751Ser) NC_000005.10:14461065:G:T Identity +NM_153256.4:c.661C>T NP_694988.3:p.Arg221Trp NC_000010.11:11869758:C:T p.(Arg221Trp) NC_000010.11:11869758:C:T p.(Arg221Trp) NC_000010.11:11869758:C:T Identity +NM_001369806.1:c.1045T>C NP_001356735.1:p.Cys349Arg NC_000001.11:113941427:T:C p.(Cys349Arg) NC_000001.11:113941427:T:C p.(Cys349Arg) NC_000001.11:113941427:T:C Identity +NM_025138.5:c.1340C>A NP_079414.3:p.Thr447Asn NC_000013.11:39013911:G:T p.(Thr447Asn) NC_000013.11:39013911:G:T p.(Thr447Asn) NC_000013.11:39013911:G:T Identity +NM_001159629.2:c.1051G>A NP_001153101.1:p.Asp351Asn NC_000015.10:50226029:G:A p.(Asp351Asn) NC_000015.10:50226029:G:A p.(Asp351Asn) NC_000015.10:50226029:G:A Identity +NM_002995.3:c.68G>C NP_002986.1:p.Gly23Ala NC_000001.11:168580068:G:C p.(Gly23Ala) NC_000001.11:168580068:G:C p.(Gly23Ala) NC_000001.11:168580068:G:C Identity +NM_001037132.4:c.3784G>T NP_001032209.1:p.Val1262Phe NC_000007.14:108150040:C:A p.(Val1262Phe) NC_000007.14:108150040:C:A p.(Val1262Phe) NC_000007.14:108150040:C:A Identity +NM_152490.5:c.1379G>T NP_689703.1:p.Trp460Leu NC_000001.11:235450329:C:A p.(Trp460Leu) NC_000001.11:235450329:C:A p.(Trp460Leu) NC_000001.11:235450329:C:A Identity +NM_198153.3:c.346G>A NP_937796.1:p.Glu116Lys NC_000006.12:41228995:G:A p.(Glu116Lys) NC_000006.12:41228995:G:A p.(Glu116Lys) NC_000006.12:41228995:G:A Identity +NM_001171091.2:c.100C>T NP_001164562.1:p.Leu34Phe NC_000019.10:4453510:G:A p.(Leu34Phe) NC_000019.10:4453510:G:A p.(Leu34Phe) NC_000019.10:4453510:G:A Identity +NM_001005189.2:c.924G>C NP_001005189.1:p.Lys308Asn NC_000001.11:158547181:C:G p.(Lys308Asn) NC_000001.11:158547181:C:G p.(Lys308Asn) NC_000001.11:158547181:C:G Identity +NM_001321468.1:c.854C>T NP_001308397.1:p.Thr285Ile NC_000002.12:39761367:G:A p.(Thr285Ile) NC_000002.12:39761367:G:A p.(Thr285Ile) NC_000002.12:39761367:G:A Identity +NM_001001998.3:c.1039A>G NP_001001998.1:p.Ser347Gly NC_000001.11:11087497:T:C p.(Ser347Gly) NC_000001.11:11087497:T:C p.(Ser347Gly) NC_000001.11:11087497:T:C Identity +NM_138392.4:c.151G>A NP_612401.2:p.Gly51Arg NC_000019.10:40577405:G:A p.(Gly51Arg) NC_000019.10:40577405:G:A p.(Gly51Arg) NC_000019.10:40577405:G:A Identity +NM_001242729.2:c.1103A>G NP_001229658.1:p.Gln368Arg NC_000004.12:105654158:A:G p.(Gln368Arg) NC_000004.12:105654158:A:G p.(Gln368Arg) NC_000004.12:105654158:A:G Identity +NM_001271946.2:c.3317C>T NP_001258875.2:p.Thr1106Ile NC_000005.10:168686996:G:A p.(Thr1106Ile) NC_000005.10:168686996:G:A p.(Thr1106Ile) NC_000005.10:168686996:G:A Identity +NM_005560.6:c.6692A>G NP_005551.3:p.Gln2231Arg NC_000020.11:62320625:T:C p.(Gln2231Arg) NC_000020.11:62320625:T:C p.(Gln2231Arg) NC_000020.11:62320625:T:C Identity +NM_000179.3:c.4019G>T NP_000170.1:p.Ser1340Ile NC_000002.12:47806795:G:T p.(Ser1340Ile) NC_000002.12:47806795:G:T p.(Ser1340Ile) NC_000002.12:47806795:G:T Identity +NM_001199492.2:c.1184A>G NP_001186421.1:p.Tyr395Cys NC_000010.11:110895963:A:G p.(Tyr395Cys) NC_000010.11:110895963:A:G p.(Tyr395Cys) NC_000010.11:110895963:A:G Identity +NM_001005417.2:c.100G>A NP_001005417.1:p.Val34Ile NC_000001.11:43981259:G:A p.(Val34Ile) NC_000001.11:43981259:G:A p.(Val34Ile) NC_000001.11:43981259:G:A Identity +NM_002152.3:c.1167C>G NP_002143.1:p.His389Gln NC_000019.10:49154070:G:C p.(His389Gln) NC_000019.10:49154070:G:C p.(His389Gln) NC_000019.10:49154070:G:C Identity +NM_016548.4:c.204C>G NP_057632.2:p.Asn68Lys NC_000009.12:86077516:G:C p.(Asn68Lys) NC_000009.12:86077516:G:C p.(Asn68Lys) NC_000009.12:86077516:G:C Identity +NM_001164694.2:c.581T>C NP_001158166.1:p.Ile194Thr NC_000006.12:150394148:T:C p.(Ile194Thr) NC_000006.12:150394148:T:C p.(Ile194Thr) NC_000006.12:150394148:T:C Identity +NM_019099.5:c.442C>T NP_061972.1:p.Arg148Trp NC_000001.11:111727419:G:A p.(Arg148Trp) NC_000001.11:111727419:G:A p.(Arg148Trp) NC_000001.11:111727419:G:A Identity +NM_018419.3:c.748G>A NP_060889.1:p.Ala250Thr NC_000020.11:64048572:C:T p.(Ala250Thr) NC_000020.11:64048572:C:T p.(Ala250Thr) NC_000020.11:64048572:C:T Identity +NM_001146175.2:c.351C>G NP_001139647.1:p.Cys117Trp NC_000019.10:8512676:G:C p.(Cys117Trp) NC_000019.10:8512676:G:C p.(Cys117Trp) NC_000019.10:8512676:G:C Identity +NM_001105244.2:c.323A>G NP_001098714.1:p.Asn108Ser NC_000018.10:7888231:A:G p.(Asn108Ser) NC_000018.10:7888231:A:G p.(Asn108Ser) NC_000018.10:7888231:A:G Identity +NM_153834.4:c.2221A>G NP_722576.3:p.Ile741Val NC_000023.11:136345926:A:G p.(Ile741Val) NC_000023.11:136345926:A:G p.(Ile741Val) NC_000023.11:136345926:A:G Identity +NM_001161584.2:c.1199G>A NP_001155056.1:p.Ser400Asn NC_000009.12:100340316:C:T p.(Ser400Asn) NC_000009.12:100340316:C:T p.(Ser400Asn) NC_000009.12:100340316:C:T Identity +NM_001307952.2:c.943C>T NP_001294881.1:p.His315Tyr NC_000015.10:88879005:G:A p.(His315Tyr) NC_000015.10:88879005:G:A p.(His315Tyr) NC_000015.10:88879005:G:A Identity +NM_003922.4:c.14137C>T NP_003913.3:p.Pro4713Ser NC_000015.10:63612513:G:A p.(Pro4713Ser) NC_000015.10:63612513:G:A p.(Pro4713Ser) NC_000015.10:63612513:G:A Identity +NM_003386.3:c.50T>A NP_003377.2:p.Phe17Tyr NC_000007.14:100734217:T:A p.(Phe17Tyr) NC_000007.14:100734217:T:A p.(Phe17Tyr) NC_000007.14:100734217:T:A Identity +NM_006063.3:c.289G>A NP_006054.2:p.Asp97Asn NC_000002.12:169510066:G:A p.(Asp97Asn) NC_000002.12:169510066:G:A p.(Asp97Asn) NC_000002.12:169510066:G:A Identity +NM_175856.5:c.158C>T NP_787052.3:p.Ala53Val NC_000005.10:129904986:C:T p.(Ala53Val) NC_000005.10:129904986:C:T p.(Ala53Val) NC_000005.10:129904986:C:T Identity +NM_206933.4:c.14269G>A NP_996816.3:p.Ala4757Thr NC_000001.11:215650665:C:T p.(Ala4757Thr) NC_000001.11:215650665:C:T p.(Ala4757Thr) NC_000001.11:215650665:C:T Identity +NM_001077.4:c.1238C>A NP_001068.1:p.Ala413Asp NC_000004.12:68550751:G:T p.(Ala413Asp) NC_000004.12:68550751:G:T p.(Ala413Asp) NC_000004.12:68550751:G:T Identity +NM_001370.2:c.10382G>A NP_001361.1:p.Gly3461Asp NC_000002.12:84745118:G:A p.(Gly3461Asp) NC_000002.12:84745118:G:A p.(Gly3461Asp) NC_000002.12:84745118:G:A Identity +NM_025217.4:c.217C>G NP_079493.1:p.Pro73Ala NC_000006.12:149945439:C:G p.(Pro73Ala) NC_000006.12:149945439:C:G p.(Pro73Ala) NC_000006.12:149945439:C:G Identity +NM_001370285.1:c.2471G>A NP_001357214.1:p.Arg824His NC_000012.12:66324155:G:A p.(Arg824His) NC_000012.12:66324155:G:A p.(Arg824His) NC_000012.12:66324155:G:A Identity +NM_001368062.3:c.3046A>G NP_001354991.2:p.Thr1016Ala NC_000012.12:80302750:A:G p.(Thr1016Ala) NC_000012.12:80302750:A:G p.(Thr1016Ala) NC_000012.12:80302750:A:G Identity +NM_001480.4:c.238G>T NP_001471.2:p.Ala80Ser NC_000018.10:77250785:G:T p.(Ala80Ser) NC_000018.10:77250785:G:T p.(Ala80Ser) NC_000018.10:77250785:G:T Identity +NM_004946.3:c.4525A>C NP_004937.1:p.Ile1509Leu NC_000005.10:170067566:A:C p.(Ile1509Leu) NC_000005.10:170067566:A:C p.(Ile1509Leu) NC_000005.10:170067566:A:C Identity +NM_001014980.3:c.430G>C NP_001014980.1:p.Gly144Arg NC_000001.11:1244054:C:G p.(Gly144Arg) NC_000001.11:1244054:C:G p.(Gly144Arg) NC_000001.11:1244054:C:G Identity +NM_001159522.3:c.1403T>C NP_001152994.1:p.Ile468Thr NC_000007.14:64078451:T:C p.(Ile468Thr) NC_000007.14:64078451:T:C p.(Ile468Thr) NC_000007.14:64078451:T:C Identity +NM_016248.4:c.1274G>T NP_057332.1:p.Gly425Val NC_000013.11:42300019:G:T p.(Gly425Val) NC_000013.11:42300019:G:T p.(Gly425Val) NC_000013.11:42300019:G:T Identity +NM_001171690.2:c.1285C>T NP_001165161.1:p.Arg429Cys NC_000022.11:37816664:C:T p.(Arg429Cys) NC_000022.11:37816664:C:T p.(Arg429Cys) NC_000022.11:37816664:C:T Identity +NM_001081675.3:c.112A>G NP_001075144.2:p.Ile38Val NC_000008.11:123652814:T:C p.(Ile38Val) NC_000008.11:123652814:T:C p.(Ile38Val) NC_000008.11:123652814:T:C Identity +NM_001288579.2:c.542C>T NP_001275508.1:p.Ala181Val NC_000001.11:222727224:C:T p.(Ala181Val) NC_000001.11:222727224:C:T p.(Ala181Val) NC_000001.11:222727224:C:T Identity +NM_020765.3:c.5431G>A NP_065816.2:p.Val1811Met NC_000001.11:19160256:C:T p.(Val1811Met) NC_000001.11:19160256:C:T p.(Val1811Met) NC_000001.11:19160256:C:T Identity +NM_001252078.2:c.2014C>G NP_001239007.1:p.Pro672Ala NC_000012.12:62391209:C:G p.(Pro672Ala) NC_000012.12:62391209:C:G p.(Pro672Ala) NC_000012.12:62391209:C:G Identity +NM_001858.6:c.3392C>T NP_001849.2:p.Pro1131Leu NC_000006.12:70207236:C:T p.(Pro1131Leu) NC_000006.12:70207236:C:T p.(Pro1131Leu) NC_000006.12:70207236:C:T Identity +NM_001206673.2:c.1055C>A NP_001193602.1:p.Thr352Asn NC_000014.9:50904185:C:A p.(Thr352Asn) NC_000014.9:50904185:C:A p.(Thr352Asn) NC_000014.9:50904185:C:A Identity +NM_001145204.3:c.1069C>T NP_001138676.2:p.Pro357Ser NC_000016.10:13235202:C:T p.(Pro357Ser) NC_000016.10:13235202:C:T p.(Pro357Ser) NC_000016.10:13235202:C:T Identity +NM_001324310.2:c.233C>T NP_001311239.1:p.Pro78Leu NC_000001.11:179044079:C:T p.(Pro78Leu) NC_000001.11:179044079:C:T p.(Pro78Leu) NC_000001.11:179044079:C:T Identity +NM_001314033.3:c.869A>C NP_001300962.1:p.Gln290Pro NC_000019.10:42225271:A:C p.(Gln290Pro) NC_000019.10:42225271:A:C p.(Gln290Pro) NC_000019.10:42225271:A:C Identity +NM_001080526.2:c.137A>G NP_001073995.1:p.Asp46Gly NC_000008.11:81459273:T:C p.(Asp46Gly) NC_000008.11:81459273:T:C p.(Asp46Gly) NC_000008.11:81459273:T:C Identity +NM_001184900.3:c.576G>C NP_001171829.1:p.Trp192Cys NC_000019.10:48230972:C:G p.(Trp192Cys) NC_000019.10:48230972:C:G p.(Trp192Cys) NC_000019.10:48230972:C:G Identity +NM_001303614.2:c.778G>C NP_001290543.1:p.Ala260Pro NC_000019.10:39375759:G:C p.(Ala260Pro) NC_000019.10:39375759:G:C p.(Ala260Pro) NC_000019.10:39375759:G:C Identity +NM_001133.2:c.79C>T NP_001124.1:p.Arg27Trp NC_000004.12:73481853:C:T p.(Arg27Trp) NC_000004.12:73481853:C:T p.(Arg27Trp) NC_000004.12:73481853:C:T Identity +NM_001080424.2:c.2524C>T NP_001073893.1:p.Pro842Ser NC_000017.11:7848811:C:T p.(Pro842Ser) NC_000017.11:7848811:C:T p.(Pro842Ser) NC_000017.11:7848811:C:T Identity +NM_001020658.2:c.1145A>G NP_001018494.1:p.Asn382Ser NC_000001.11:30992402:T:C p.(Asn382Ser) NC_000001.11:30992402:T:C p.(Asn382Ser) NC_000001.11:30992402:T:C Identity +NM_153610.5:c.11575G>A NP_705838.3:p.Gly3859Arg NC_000005.10:79788989:G:A p.(Gly3859Arg) NC_000005.10:79788989:G:A p.(Gly3859Arg) NC_000005.10:79788989:G:A Identity +NM_004455.3:c.1721T>A NP_004446.2:p.Leu574Gln NC_000001.11:26034876:T:A p.(Leu574Gln) NC_000001.11:26034876:T:A p.(Leu574Gln) NC_000001.11:26034876:T:A Identity +NM_001014972.3:c.479A>T NP_001014972.1:p.Tyr160Phe NC_000002.12:71349432:A:T p.(Tyr160Phe) NC_000002.12:71349432:A:T p.(Tyr160Phe) NC_000002.12:71349432:A:T Identity +NM_130807.3:c.553A>G NP_570719.1:p.Thr185Ala NC_000019.10:2076881:T:C p.(Thr185Ala) NC_000019.10:2076881:T:C p.(Thr185Ala) NC_000019.10:2076881:T:C Identity +NM_001363887.1:c.107C>A NP_001350816.1:p.Ala36Glu NC_000003.12:197791384:C:A p.(Ala36Glu) NC_000003.12:197791384:C:A p.(Ala36Glu) NC_000003.12:197791384:C:A Identity +NM_001012502.3:c.318G>C NP_001012520.2:p.Gln106His NC_000009.12:127709577:G:C p.(Gln106His) NC_000009.12:127709577:G:C p.(Gln106His) NC_000009.12:127709577:G:C Identity +NM_001146008.2:c.101G>A NP_001139480.1:p.Arg34Lys NC_000008.11:69832572:C:T p.(Arg34Lys) NC_000008.11:69832572:C:T p.(Arg34Lys) NC_000008.11:69832572:C:T Identity +NM_014594.3:c.1114G>A NP_055409.1:p.Ala372Thr NC_000005.10:179079545:G:A p.(Ala372Thr) NC_000005.10:179079545:G:A p.(Ala372Thr) NC_000005.10:179079545:G:A Identity +NM_001170790.2:c.800A>G NP_001164261.1:p.His267Arg NC_000012.12:53253313:A:G p.(His267Arg) NC_000012.12:53253313:A:G p.(His267Arg) NC_000012.12:53253313:A:G Identity +NM_001297763.2:c.277T>C NP_001284692.1:p.Trp93Arg NC_000019.10:40008525:T:C p.(Trp93Arg) NC_000019.10:40008525:T:C p.(Trp93Arg) NC_000019.10:40008525:T:C Identity +NM_001365276.2:c.9043A>G NP_001352205.1:p.Lys3015Glu NC_000006.12:32052741:T:C p.(Lys3015Glu) NC_000006.12:32052741:T:C p.(Lys3015Glu) NC_000006.12:32052741:T:C Identity +NM_001145440.3:c.472G>A NP_001138912.2:p.Val158Met NC_000007.14:72807316:C:T p.(Val158Met) NC_000007.14:72807316:C:T p.(Val158Met) NC_000007.14:72807316:C:T Identity +NM_001351225.2:c.1067T>C NP_001338154.1:p.Leu356Pro NC_000017.11:6606917:A:G p.(Leu356Pro) NC_000017.11:6606917:A:G p.(Leu356Pro) NC_000017.11:6606917:A:G Identity +NM_004521.3:c.865T>G NP_004512.1:p.Ser289Ala NC_000010.11:32035618:A:C p.(Ser289Ala) NC_000010.11:32035618:A:C p.(Ser289Ala) NC_000010.11:32035618:A:C Identity +NM_032279.4:c.574A>C NP_115655.2:p.Thr192Pro NC_000003.12:193491357:T:G p.(Thr192Pro) NC_000003.12:193491357:T:G p.(Thr192Pro) NC_000003.12:193491357:T:G Identity +NM_001242933.2:c.1439G>A NP_001229862.1:p.Arg480Gln NC_000015.10:64136402:G:A p.(Arg480Gln) NC_000015.10:64136402:G:A p.(Arg480Gln) NC_000015.10:64136402:G:A Identity +NM_001171201.1:c.961A>G NP_001164672.1:p.Ile321Val NC_000009.12:34241793:A:G p.(Ile321Val) NC_000009.12:34241793:A:G p.(Ile321Val) NC_000009.12:34241793:A:G Identity +NM_001453.3:c.98C>T NP_001444.2:p.Ala33Val NC_000006.12:1610542:C:T p.(Ala33Val) NC_000006.12:1610542:C:T p.(Ala33Val) NC_000006.12:1610542:C:T Identity +NM_001324423.2:c.438G>T NP_001311352.1:p.Gln146His NC_000012.12:80811515:C:A p.(Gln146His) NC_000012.12:80811515:C:A p.(Gln146His) NC_000012.12:80811515:C:A Identity +NM_001130720.3:c.1538G>A NP_001124192.1:p.Arg513Lys NC_000007.14:129422918:G:A p.(Arg513Lys) NC_000007.14:129422918:G:A p.(Arg513Lys) NC_000007.14:129422918:G:A Identity +NM_018686.6:c.743T>C NP_061156.1:p.Ile248Thr NC_000012.12:22060880:T:C p.(Ile248Thr) NC_000012.12:22060880:T:C p.(Ile248Thr) NC_000012.12:22060880:T:C Identity +NM_015143.3:c.1103G>A NP_055958.2:p.Cys368Tyr NC_000004.12:99061258:G:A p.(Cys368Tyr) NC_000004.12:99061258:G:A p.(Cys368Tyr) NC_000004.12:99061258:G:A Identity +NM_001261463.2:c.3137A>G NP_001248392.1:p.Asp1046Gly NC_000010.11:113614887:T:C p.(Asp1046Gly) NC_000010.11:113614887:T:C p.(Asp1046Gly) NC_000010.11:113614887:T:C Identity +NM_000585.5:c.238C>T NP_000576.1:p.His80Tyr NC_000004.12:141727981:C:T p.(His80Tyr) NC_000004.12:141727981:C:T p.(His80Tyr) NC_000004.12:141727981:C:T Identity +NM_002081.3:c.1220T>C NP_002072.2:p.Leu407Pro NC_000002.12:240465161:T:C p.(Leu407Pro) NC_000002.12:240465161:T:C p.(Leu407Pro) NC_000002.12:240465161:T:C Identity +NM_001261406.2:c.308A>G NP_001248335.1:p.Glu103Gly NC_000009.12:13224458:T:C p.(Glu103Gly) NC_000009.12:13224458:T:C p.(Glu103Gly) NC_000009.12:13224458:T:C Identity +NM_001195790.3:c.1133T>A NP_001182719.2:p.Leu378Gln NC_000017.11:35478091:A:T p.(Leu378Gln) NC_000017.11:35478091:A:T p.(Leu378Gln) NC_000017.11:35478091:A:T Identity +NM_024654.5:c.1241A>G NP_078930.4:p.Gln414Arg NC_000001.11:6532756:T:C p.(Gln414Arg) NC_000001.11:6532756:T:C p.(Gln414Arg) NC_000001.11:6532756:T:C Identity +NM_001142552.2:c.3271G>A NP_001136024.1:p.Val1091Met NC_000004.12:154332936:C:T p.(Val1091Met) NC_000004.12:154332936:C:T p.(Val1091Met) NC_000004.12:154332936:C:T Identity +NM_001370.2:c.5035T>A NP_001361.1:p.Ser1679Thr NC_000002.12:84642010:T:A p.(Ser1679Thr) NC_000002.12:84642010:T:A p.(Ser1679Thr) NC_000002.12:84642010:T:A Identity +NM_000071.3:c.149G>A NP_000062.1:p.Ser50Asn NC_000021.9:43072044:C:T p.(Ser50Asn) NC_000021.9:43072044:C:T p.(Ser50Asn) NC_000021.9:43072044:C:T Identity +NM_014603.3:c.997C>T NP_055418.2:p.Arg333Trp NC_000017.11:75003672:C:T p.(Arg333Trp) NC_000017.11:75003672:C:T p.(Arg333Trp) NC_000017.11:75003672:C:T Identity +NM_001141979.3:c.2071A>G NP_001135451.1:p.Ser691Gly NC_000015.10:43456536:T:C p.(Ser691Gly) NC_000015.10:43456536:T:C p.(Ser691Gly) NC_000015.10:43456536:T:C Identity +NM_001350217.2:c.964A>G NP_001337146.1:p.Thr322Ala NC_000001.11:66682005:A:G p.(Thr322Ala) NC_000001.11:66682005:A:G p.(Thr322Ala) NC_000001.11:66682005:A:G Identity +NM_033197.3:c.1261G>A NP_149974.2:p.Val421Ile NC_000020.11:33306007:G:A p.(Val421Ile) NC_000020.11:33306007:G:A p.(Val421Ile) NC_000020.11:33306007:G:A Identity +NM_003613.4:c.1342C>T NP_003604.4:p.Arg448Cys NC_000015.10:65198943:G:A p.(Arg448Cys) NC_000015.10:65198943:G:A p.(Arg448Cys) NC_000015.10:65198943:G:A Identity +NM_001166434.3:c.1765G>A NP_001159906.1:p.Gly589Arg NC_000003.12:52789723:G:A p.(Gly589Arg) NC_000003.12:52789723:G:A p.(Gly589Arg) NC_000003.12:52789723:G:A Identity +NM_001142782.2:c.1425G>T NP_001136254.1:p.Gln475His NC_000001.11:113641974:G:T p.(Gln475His) NC_000001.11:113641974:G:T p.(Gln475His) NC_000001.11:113641974:G:T Identity +NM_031275.4:c.110A>G NP_112565.1:p.Asp37Gly NC_000011.10:112170464:A:G p.(Asp37Gly) NC_000011.10:112170464:A:G p.(Asp37Gly) NC_000011.10:112170464:A:G Identity +NM_152228.3:c.1696G>A NP_689414.2:p.Glu566Lys NC_000001.11:1333600:G:A p.(Glu566Lys) NC_000001.11:1333600:G:A p.(Glu566Lys) NC_000001.11:1333600:G:A Identity +NM_001394547.1:c.6601G>A NP_001381476.1:p.Asp2201Asn NC_000015.10:62805722:G:A p.(Asp2201Asn) NC_000015.10:62805722:G:A p.(Asp2201Asn) NC_000015.10:62805722:G:A Identity +NM_001378066.1:c.2509C>T NP_001364995.1:p.Leu837Phe NC_000017.11:58495644:G:A p.(Leu837Phe) NC_000017.11:58495644:G:A p.(Leu837Phe) NC_000017.11:58495644:G:A Identity +NM_001130914.2:c.434T>C NP_001124386.1:p.Phe145Ser NC_000021.9:17604153:A:G p.(Phe145Ser) NC_000021.9:17604153:A:G p.(Phe145Ser) NC_000021.9:17604153:A:G Identity +NM_001243325.2:c.357G>A NP_001230254.1:p.Met119Ile NC_000006.12:149889504:C:T p.(Met119Ile) NC_000006.12:149889504:C:T p.(Met119Ile) NC_000006.12:149889504:C:T Identity +NM_000845.3:c.773G>A NP_000836.2:p.Arg258Lys NC_000007.14:126904637:C:T p.(Arg258Lys) NC_000007.14:126904637:C:T p.(Arg258Lys) NC_000007.14:126904637:C:T Identity +NM_005399.5:c.533G>T NP_005390.1:p.Cys178Phe NC_000001.11:147166502:C:A p.(Cys178Phe) NC_000001.11:147166502:C:A p.(Cys178Phe) NC_000001.11:147166502:C:A Identity +NM_152446.5:c.3258A>T NP_689659.2:p.Gln1086His NC_000014.9:80497505:T:A p.(Gln1086His) NC_000014.9:80497505:T:A p.(Gln1086His) NC_000014.9:80497505:T:A Identity +NM_001204878.2:c.743C>G NP_001191807.1:p.Pro248Arg NC_000008.11:38209229:C:G p.(Pro248Arg) NC_000008.11:38209229:C:G p.(Pro248Arg) NC_000008.11:38209229:C:G Identity +NM_001308189.2:c.116C>A NP_001295118.1:p.Pro39His NC_000005.10:173889848:C:A p.(Pro39His) NC_000005.10:173889848:C:A p.(Pro39His) NC_000005.10:173889848:C:A Identity +NM_145057.4:c.409A>C NP_659494.2:p.Asn137His NC_000019.10:54465138:T:G p.(Asn137His) NC_000019.10:54465138:T:G p.(Asn137His) NC_000019.10:54465138:T:G Identity +NM_001276320.2:c.458A>G NP_001263249.1:p.Tyr153Cys NC_000001.11:207049476:T:C p.(Tyr153Cys) NC_000001.11:207049476:T:C p.(Tyr153Cys) NC_000001.11:207049476:T:C Identity +NM_182608.4:c.164A>T NP_872414.3:p.Lys55Ile NC_000012.12:51888585:A:T p.(Lys55Ile) NC_000012.12:51888585:A:T p.(Lys55Ile) NC_000012.12:51888585:A:T Identity +NM_174952.3:c.668G>A NP_777612.1:p.Arg223Gln NC_000004.12:97981262:C:T p.(Arg223Gln) NC_000004.12:97981262:C:T p.(Arg223Gln) NC_000004.12:97981262:C:T Identity +NM_152610.3:c.1310T>C NP_689823.2:p.Met437Thr NC_000001.11:223394784:T:C p.(Met437Thr) NC_000001.11:223394784:T:C p.(Met437Thr) NC_000001.11:223394784:T:C Identity +NM_001031686.1:c.293C>T NP_001026856.1:p.Pro98Leu NC_000016.10:3115849:C:T ERR:Data provider error: ValueError: Transcript NM_001031686.1 not found ERR:Data provider error: ValueError: Transcript NM_001031686.1 not found ERR:AlignmentMapper(tx_ac=NM_001031686.1, alt_ac=NM_001031686.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031686.1, alt_ac=NM_001031686.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031686.1 not found +NM_005431.2:c.629C>T NP_005422.1:p.Ser210Phe NC_000007.14:152648855:G:A p.(Ser210Phe) NC_000007.14:152648855:G:A p.(Ser210Phe) NC_000007.14:152648855:G:A Identity +NM_032489.3:c.1213G>T NP_115878.2:p.Val405Phe NC_000012.12:6640386:C:A p.(Val405Phe) NC_000012.12:6640386:C:A p.(Val405Phe) NC_000012.12:6640386:C:A Identity +NM_015562.2:c.158G>A NP_056377.1:p.Gly53Glu NC_000003.12:196407308:C:T p.(Gly53Glu) NC_000003.12:196407308:C:T p.(Gly53Glu) NC_000003.12:196407308:C:T Identity +NM_199511.3:c.511C>A NP_955805.1:p.Leu171Met NC_000003.12:112639394:G:T p.(Leu171Met) NC_000003.12:112639394:G:T p.(Leu171Met) NC_000003.12:112639394:G:T Identity +NM_006392.4:c.1561G>C NP_006383.2:p.Asp521His NC_000020.11:2658069:G:C p.(Asp521His) NC_000020.11:2658069:G:C p.(Asp521His) NC_000020.11:2658069:G:C Identity +NM_001029976.3:c.950G>T NP_001025147.2:p.Ser317Ile NC_000008.11:144931836:C:A p.(Ser317Ile) NC_000008.11:144931836:C:A p.(Ser317Ile) NC_000008.11:144931836:C:A Identity +NM_138573.4:c.310A>G NP_612640.1:p.Ser104Gly NC_000015.10:75955952:T:C p.(Ser104Gly) NC_000015.10:75955952:T:C p.(Ser104Gly) NC_000015.10:75955952:T:C Identity +NM_031430.3:c.543G>C NP_113618.2:p.Gln181His NC_000017.11:1648930:C:G p.(Gln181His) NC_000017.11:1648930:C:G p.(Gln181His) NC_000017.11:1648930:C:G Identity +NM_033318.5:c.17C>T NP_201575.3:p.Ala6Val NC_000022.11:42079784:C:T p.(Ala6Val) NC_000022.11:42079784:C:T p.(Ala6Val) NC_000022.11:42079784:C:T Identity +NM_001193517.2:c.40G>A NP_001180446.1:p.Glu14Lys NC_000002.12:86563308:C:T p.(Glu14Lys) NC_000002.12:86563308:C:T p.(Glu14Lys) NC_000002.12:86563308:C:T Identity +NM_001206480.2:c.587C>T NP_001193409.1:p.Ser196Leu NC_000007.14:37224992:G:A p.(Ser196Leu) NC_000007.14:37224992:G:A p.(Ser196Leu) NC_000007.14:37224992:G:A Identity +NM_024509.2:c.1831G>A NP_078785.1:p.Val611Met NC_000019.10:35944962:G:A p.(Val611Met) NC_000019.10:35944962:G:A p.(Val611Met) NC_000019.10:35944962:G:A Identity +NM_001004342.5:c.590C>T NP_001004342.3:p.Pro197Leu NC_000001.11:231163558:C:T p.(Pro197Leu) NC_000001.11:231163558:C:T p.(Pro197Leu) NC_000001.11:231163558:C:T Identity +NM_144713.5:c.101C>T NP_653314.3:p.Ser34Phe NC_000002.12:37951315:C:T p.(Ser34Phe) NC_000002.12:37951315:C:T p.(Ser34Phe) NC_000002.12:37951315:C:T Identity +NM_015693.4:c.697G>T NP_056508.2:p.Ala233Ser NC_000004.12:127656649:G:T p.(Ala233Ser) NC_000004.12:127656649:G:T p.(Ala233Ser) NC_000004.12:127656649:G:T Identity +NM_001200049.3:c.7858C>A NP_001186978.2:p.His2620Asn NC_000010.11:132808710:G:T p.(His2620Asn) NC_000010.11:132808710:G:T p.(His2620Asn) NC_000010.11:132808710:G:T Identity +NM_001143668.1:c.1097T>C NP_001137140.1:p.Met366Thr NC_000012.12:47077905:A:G p.(Met366Thr) NC_000012.12:47077905:A:G p.(Met366Thr) NC_000012.12:47077905:A:G Identity +NM_001304957.2:c.869G>C NP_001291886.1:p.Gly290Ala NC_000012.12:123937184:C:G p.(Gly290Ala) NC_000012.12:123937184:C:G p.(Gly290Ala) NC_000012.12:123937184:C:G Identity +NM_001393501.1:c.2924G>A NP_001380430.1:p.Arg975Gln NC_000019.10:18145089:G:A p.(Arg975Gln) NC_000019.10:18145089:G:A p.(Arg975Gln) NC_000019.10:18145089:G:A Identity +NM_016436.5:c.187C>T NP_057520.2:p.Pro63Ser NC_000020.11:35842675:C:T p.(Pro63Ser) NC_000020.11:35842675:C:T p.(Pro63Ser) NC_000020.11:35842675:C:T Identity +NM_001010874.5:c.376G>C NP_001010874.2:p.Ala126Pro NC_000004.12:64322747:C:G p.(Ala126Pro) NC_000004.12:64322747:C:G p.(Ala126Pro) NC_000004.12:64322747:C:G Identity +NM_001003406.2:c.6346A>G NP_001003406.1:p.Arg2116Gly NC_000022.11:39686183:A:G p.(Arg2116Gly) NC_000022.11:39686183:A:G p.(Arg2116Gly) NC_000022.11:39686183:A:G Identity +NM_152446.5:c.2587C>T NP_689659.2:p.Pro863Ser NC_000014.9:80756917:G:A p.(Pro863Ser) NC_000014.9:80756917:G:A p.(Pro863Ser) NC_000014.9:80756917:G:A Identity +NM_004963.4:c.2705G>A NP_004954.2:p.Ser902Asn NC_000012.12:14621112:C:T p.(Ser902Asn) NC_000012.12:14621112:C:T p.(Ser902Asn) NC_000012.12:14621112:C:T Identity +NM_001304533.3:c.53T>C NP_001291462.1:p.Leu18Ser NC_000008.11:62249125:T:C p.(Leu18Ser) NC_000008.11:62249125:T:C p.(Leu18Ser) NC_000008.11:62249125:T:C Identity +NM_001159587.3:c.2872A>T NP_001153059.1:p.Arg958Trp NC_000006.12:73792795:A:T p.(Arg958Trp) NC_000006.12:73792795:A:T p.(Arg958Trp) NC_000006.12:73792795:A:T Identity +NM_001278666.2:c.365A>G NP_001265595.1:p.Lys122Arg NC_000006.12:57196482:T:C p.(Lys122Arg) NC_000006.12:57196482:T:C p.(Lys122Arg) NC_000006.12:57196482:T:C Identity +NM_001282795.2:c.1792G>A NP_001269724.1:p.Gly598Arg NC_000008.11:144842865:G:A p.(Gly598Arg) NC_000008.11:144842865:G:A p.(Gly598Arg) NC_000008.11:144842865:G:A Identity +NM_001376262.1:c.3556G>A NP_001363191.1:p.Gly1186Ser NC_000011.10:64635299:C:T p.(Gly1186Ser) NC_000011.10:64635299:C:T p.(Gly1186Ser) NC_000011.10:64635299:C:T Identity +NM_002207.3:c.1349T>C NP_002198.2:p.Met450Thr NC_000003.12:37526046:T:C p.(Met450Thr) NC_000003.12:37526046:T:C p.(Met450Thr) NC_000003.12:37526046:T:C Identity +NM_001308169.2:c.623T>C NP_001295098.1:p.Leu208Pro NC_000016.10:20471654:T:C p.(Leu208Pro) NC_000016.10:20471654:T:C p.(Leu208Pro) NC_000016.10:20471654:T:C Identity +NM_004441.5:c.1565G>A NP_004432.1:p.Cys522Tyr NC_000003.12:135162159:G:A p.(Cys522Tyr) NC_000003.12:135162159:G:A p.(Cys522Tyr) NC_000003.12:135162159:G:A Identity +NM_001199551.2:c.322T>C NP_001186480.1:p.Phe108Leu NC_000003.12:9870237:A:G p.(Phe108Leu) NC_000003.12:9870237:A:G p.(Phe108Leu) NC_000003.12:9870237:A:G Identity +NM_005290.4:c.443A>G NP_005281.1:p.Asp148Gly NC_000003.12:98532475:A:G p.(Asp148Gly) NC_000003.12:98532475:A:G p.(Asp148Gly) NC_000003.12:98532475:A:G Identity +NM_012471.3:c.2619G>T NP_036603.1:p.Gln873His NC_000023.11:111776615:C:A p.(Gln873His) NC_000023.11:111776615:C:A p.(Gln873His) NC_000023.11:111776615:C:A Identity +NM_001143912.2:c.27G>C NP_001137384.1:p.Lys9Asn NC_000001.11:27726106:G:C p.(Lys9Asn) NC_000001.11:27726106:G:C p.(Lys9Asn) NC_000001.11:27726106:G:C Identity +NM_001100398.2:c.2090C>T NP_001093868.1:p.Ser697Leu NC_000017.11:3030948:C:T p.(Ser697Leu) NC_000017.11:3030948:C:T p.(Ser697Leu) NC_000017.11:3030948:C:T Identity +NM_001195.5:c.266C>T NP_001186.1:p.Ala89Val NC_000020.11:17531063:G:A p.(Ala89Val) NC_000020.11:17531063:G:A p.(Ala89Val) NC_000020.11:17531063:G:A Identity +NM_005716.4:c.232A>G NP_005707.1:p.Asn78Asp NC_000019.10:14482744:T:C p.(Asn78Asp) NC_000019.10:14482744:T:C p.(Asn78Asp) NC_000019.10:14482744:T:C Identity +NM_001198621.4:c.1050G>T NP_001185550.1:p.Glu350Asp NC_000003.12:39188395:C:A p.(Glu350Asp) NC_000003.12:39188395:C:A p.(Glu350Asp) NC_000003.12:39188395:C:A Identity +NM_000091.5:c.4294C>G NP_000082.2:p.Arg1432Gly NC_000002.12:227307750:C:G p.(Arg1432Gly) NC_000002.12:227307750:C:G p.(Arg1432Gly) NC_000002.12:227307750:C:G Identity +NM_001039589.2:c.572C>A NP_001034678.1:p.Pro191His NC_000001.11:43972244:C:A p.(Pro191His) NC_000001.11:43972244:C:A p.(Pro191His) NC_000001.11:43972244:C:A Identity +NM_001410870.1:c.1079A>G NP_001397799.1:p.Lys360Arg NC_000007.14:32559327:A:G p.(Lys360Arg) NC_000007.14:32559327:A:G p.(Lys360Arg) NC_000007.14:32559327:A:G Identity +NM_001145923.2:c.3346C>G NP_001139395.1:p.Pro1116Ala NC_000015.10:76351251:G:C p.(Pro1116Ala) NC_000015.10:76351251:G:C p.(Pro1116Ala) NC_000015.10:76351251:G:C Identity +NM_001257408.2:c.1180C>T NP_001244337.1:p.Leu394Phe NC_000017.11:39766037:G:A p.(Leu394Phe) NC_000017.11:39766037:G:A p.(Leu394Phe) NC_000017.11:39766037:G:A Identity +NM_012449.3:c.410C>A NP_036581.1:p.Ala137Glu NC_000007.14:90161129:C:A p.(Ala137Glu) NC_000007.14:90161129:C:A p.(Ala137Glu) NC_000007.14:90161129:C:A Identity +NM_001099407.2:c.44G>A NP_001092877.1:p.Arg15Gln NC_000020.11:18465314:C:T p.(Arg15Gln) NC_000020.11:18465314:C:T p.(Arg15Gln) NC_000020.11:18465314:C:T Identity +NM_001321866.4:c.1714T>A NP_001308795.1:p.Cys572Ser NC_000019.10:52766248:A:T p.(Cys572Ser) NC_000019.10:52766248:A:T p.(Cys572Ser) NC_000019.10:52766248:A:T Identity +NM_014550.4:c.1913C>T NP_055365.2:p.Ser638Phe NC_000022.11:37497052:G:A p.(Ser638Phe) NC_000022.11:37497052:G:A p.(Ser638Phe) NC_000022.11:37497052:G:A Identity +NM_000361.3:c.467A>G NP_000352.1:p.Gln156Arg NC_000020.11:23049037:T:C p.(Gln156Arg) NC_000020.11:23049037:T:C p.(Gln156Arg) NC_000020.11:23049037:T:C Identity +NM_001278928.2:c.509T>C NP_001265857.1:p.Leu170Pro NC_000009.12:133360120:T:C p.(Leu170Pro) NC_000009.12:133360120:T:C p.(Leu170Pro) NC_000009.12:133360120:T:C Identity +NM_173084.3:c.1084A>G NP_775107.1:p.Ile362Val NC_000003.12:160438099:T:C p.(Ile362Val) NC_000003.12:160438099:T:C p.(Ile362Val) NC_000003.12:160438099:T:C Identity +NM_001375442.1:c.799G>A NP_001362371.1:p.Ala267Thr NC_000002.12:48374945:G:A p.(Ala267Thr) NC_000002.12:48374945:G:A p.(Ala267Thr) NC_000002.12:48374945:G:A Identity +NM_001142614.2:c.127G>A NP_001136086.1:p.Val43Ile NC_000002.12:62747416:G:A p.(Val43Ile) NC_000002.12:62747416:G:A p.(Val43Ile) NC_000002.12:62747416:G:A Identity +NM_005173.4:c.2261A>G NP_005164.2:p.Tyr754Cys NC_000017.11:3937475:T:C p.(Tyr754Cys) NC_000017.11:3937475:T:C p.(Tyr754Cys) NC_000017.11:3937475:T:C Identity +NM_182495.6:c.767T>G NP_872301.2:p.Val256Gly NC_000011.10:114698678:T:G p.(Val256Gly) NC_000011.10:114698678:T:G p.(Val256Gly) NC_000011.10:114698678:T:G Identity +NM_022092.3:c.553G>A NP_071375.1:p.Gly185Ser NC_000016.10:789661:G:A p.(Gly185Ser) NC_000016.10:789661:G:A p.(Gly185Ser) NC_000016.10:789661:G:A Identity +NM_001004689.2:c.503A>T NP_001004689.1:p.Tyr168Phe NC_000001.11:248203569:A:T p.(Tyr168Phe) NC_000001.11:248203569:A:T p.(Tyr168Phe) NC_000001.11:248203569:A:T Identity +NM_001134450.2:c.627A>C NP_001127922.1:p.Lys209Asn NC_000007.14:98856107:T:G p.(Lys209Asn) NC_000007.14:98856107:T:G p.(Lys209Asn) NC_000007.14:98856107:T:G Identity +NM_001314021.2:c.2492C>T NP_001300950.1:p.Ser831Leu NC_000001.11:229637104:C:T p.(Ser831Leu) NC_000001.11:229637104:C:T p.(Ser831Leu) NC_000001.11:229637104:C:T Identity +NM_001367498.1:c.722A>G NP_001354427.1:p.His241Arg NC_000002.12:124434675:A:G p.(His241Arg) NC_000002.12:124434675:A:G p.(His241Arg) NC_000002.12:124434675:A:G Identity +NM_015103.3:c.991G>T NP_055918.3:p.Ala331Ser NC_000003.12:129605648:C:A p.(Ala331Ser) NC_000003.12:129605648:C:A p.(Ala331Ser) NC_000003.12:129605648:C:A Identity +NM_015694.3:c.434C>T NP_056509.2:p.Thr145Ile NC_000007.14:149455588:G:A p.(Thr145Ile) NC_000007.14:149455588:G:A p.(Thr145Ile) NC_000007.14:149455588:G:A Identity +NM_001130445.3:c.1825C>G NP_001123917.1:p.Gln609Glu NC_000002.12:181915464:C:G p.(Gln609Glu) NC_000002.12:181915464:C:G p.(Gln609Glu) NC_000002.12:181915464:C:G Identity +NM_018342.5:c.503A>G NP_060812.2:p.Asn168Ser NC_000004.12:158235444:A:G p.(Asn168Ser) NC_000004.12:158235444:A:G p.(Asn168Ser) NC_000004.12:158235444:A:G Identity +NM_001290204.2:c.1459T>C NP_001277133.1:p.Ser487Pro NC_000003.12:53288159:A:G p.(Ser487Pro) NC_000003.12:53288159:A:G p.(Ser487Pro) NC_000003.12:53288159:A:G Identity +NM_001042440.5:c.230C>G NP_001035905.1:p.Ala77Gly NC_000005.10:96722657:C:G p.(Ala77Gly) NC_000005.10:96722657:C:G p.(Ala77Gly) NC_000005.10:96722657:C:G Identity +NM_001081676.2:c.123A>C NP_001075145.1:p.Gln41His NC_000002.12:165176271:T:G p.(Gln41His) NC_000002.12:165176271:T:G p.(Gln41His) NC_000002.12:165176271:T:G Identity +NM_001353366.2:c.406C>G NP_001340295.1:p.Arg136Gly NC_000007.14:156950142:C:G p.(Arg136Gly) NC_000007.14:156950142:C:G p.(Arg136Gly) NC_000007.14:156950142:C:G Identity +NM_001324371.2:c.911T>C NP_001311300.1:p.Val304Ala NC_000016.10:20424058:T:C p.(Val304Ala) NC_000016.10:20424058:T:C p.(Val304Ala) NC_000016.10:20424058:T:C Identity +NM_032142.4:c.4060A>T NP_115518.3:p.Thr1354Ser NC_000018.10:13056649:A:T p.(Thr1354Ser) NC_000018.10:13056649:A:T p.(Thr1354Ser) NC_000018.10:13056649:A:T Identity +NM_001321307.1:c.3108C>G NP_001308236.1:p.Asp1036Glu NC_000011.10:108161998:G:C p.(Asp1036Glu) NC_000011.10:108161998:G:C p.(Asp1036Glu) NC_000011.10:108161998:G:C Identity +NM_001303139.2:c.1283A>C NP_001290068.1:p.Asn428Thr NC_000003.12:73384376:T:G p.(Asn428Thr) NC_000003.12:73384376:T:G p.(Asn428Thr) NC_000003.12:73384376:T:G Identity +NM_001253772.2:c.1469T>C NP_001240701.1:p.Ile490Thr NC_000001.11:114097772:A:G p.(Ile490Thr) NC_000001.11:114097772:A:G p.(Ile490Thr) NC_000001.11:114097772:A:G Identity +NM_030613.4:c.398A>G NP_085116.2:p.Asn133Ser NC_000005.10:178931710:A:G p.(Asn133Ser) NC_000005.10:178931710:A:G p.(Asn133Ser) NC_000005.10:178931710:A:G Identity +NM_001242800.2:c.989G>T NP_001229729.1:p.Arg330Ile NC_000019.10:36819354:C:A p.(Arg330Ile) NC_000019.10:36819354:C:A p.(Arg330Ile) NC_000019.10:36819354:C:A Identity +NM_001144950.2:c.4553G>T NP_001138422.1:p.Arg1518Leu NC_000019.10:55518828:G:T p.(Arg1518Leu) NC_000019.10:55518828:G:T p.(Arg1518Leu) NC_000019.10:55518828:G:T Identity +NM_000177.5:c.1772A>G NP_000168.1:p.Asn591Ser NC_000009.12:121327338:A:G p.(Asn591Ser) NC_000009.12:121327338:A:G p.(Asn591Ser) NC_000009.12:121327338:A:G Identity +NM_001330751.2:c.2000C>T NP_001317680.1:p.Ala667Val NC_000004.12:23812780:G:A p.(Ala667Val) NC_000004.12:23812780:G:A p.(Ala667Val) NC_000004.12:23812780:G:A Identity +NM_018136.5:c.7696A>G NP_060606.3:p.Met2566Val NC_000001.11:197101554:T:C p.(Met2566Val) NC_000001.11:197101554:T:C p.(Met2566Val) NC_000001.11:197101554:T:C Identity +NM_001137610.3:c.607C>G NP_001131082.1:p.Leu203Val NC_000008.11:12428767:G:C p.(Leu203Val) NC_000008.11:12428767:G:C p.(Leu203Val) NC_000008.11:12428767:G:C Identity +NM_001409.4:c.2456C>T NP_001400.3:p.Ala819Val NC_000001.11:3501084:G:A p.(Ala819Val) NC_000001.11:3501084:G:A p.(Ala819Val) NC_000001.11:3501084:G:A Identity +NM_001098482.2:c.1319C>A NP_001091952.1:p.Ser440Tyr NC_000019.10:18768743:C:A p.(Ser440Tyr) NC_000019.10:18768743:C:A p.(Ser440Tyr) NC_000019.10:18768743:C:A Identity +NM_001330107.2:c.865C>T NP_001317036.1:p.His289Tyr NC_000010.11:73807523:G:A p.(His289Tyr) NC_000010.11:73807523:G:A p.(His289Tyr) NC_000010.11:73807523:G:A Identity +NM_001378761.1:c.1041G>A NP_001365690.1:p.Met347Ile NC_000011.10:121105849:G:A p.(Met347Ile) NC_000011.10:121105849:G:A p.(Met347Ile) NC_000011.10:121105849:G:A Identity +NM_012405.4:c.55G>T NP_036537.1:p.Ala19Ser NC_000001.11:6235856:C:A p.(Ala19Ser) NC_000001.11:6235856:C:A p.(Ala19Ser) NC_000001.11:6235856:C:A Identity +NM_024734.4:c.2074A>G NP_079010.2:p.Ser692Gly NC_000014.9:95203274:T:C p.(Ser692Gly) NC_000014.9:95203274:T:C p.(Ser692Gly) NC_000014.9:95203274:T:C Identity +NM_001282447.3:c.1572G>C NP_001269376.1:p.Gln524His NC_000020.11:3672158:C:G p.(Gln524His) NC_000020.11:3672158:C:G p.(Gln524His) NC_000020.11:3672158:C:G Identity +NM_001012333.3:c.214G>T NP_001012333.1:p.Val72Leu NC_000011.10:46382430:G:T p.(Val72Leu) NC_000011.10:46382430:G:T p.(Val72Leu) NC_000011.10:46382430:G:T Identity +NM_018206.6:c.1161T>G NP_060676.2:p.His387Gln NC_000016.10:46672471:A:C p.(His387Gln) NC_000016.10:46672471:A:C p.(His387Gln) NC_000016.10:46672471:A:C Identity +NM_001256335.2:c.337C>T NP_001243264.1:p.Arg113Cys NC_000009.12:128122456:G:A p.(Arg113Cys) NC_000009.12:128122456:G:A p.(Arg113Cys) NC_000009.12:128122456:G:A Identity +NM_001145475.3:c.5486G>A NP_001138947.1:p.Arg1829Gln NC_000012.12:50351345:C:T p.(Arg1829Gln) NC_000012.12:50351345:C:T p.(Arg1829Gln) NC_000012.12:50351345:C:T Identity +NM_152531.5:c.415C>T NP_689744.3:p.Leu139Phe NC_000003.12:195270643:G:A p.(Leu139Phe) NC_000003.12:195270643:G:A p.(Leu139Phe) NC_000003.12:195270643:G:A Identity +NM_001086.3:c.191T>A NP_001077.2:p.Val64Asp NC_000003.12:151817417:T:A p.(Val64Asp) NC_000003.12:151817417:T:A p.(Val64Asp) NC_000003.12:151817417:T:A Identity +NM_001166244.1:c.745G>A NP_001159716.1:p.Gly249Arg NC_000010.11:98721693:C:T p.(Gly249Arg) NC_000010.11:98721693:C:T p.(Gly249Arg) NC_000010.11:98721693:C:T Identity +NM_001037984.3:c.1486C>T NP_001033073.1:p.Arg496Cys NC_000017.11:81252653:G:A p.(Arg496Cys) NC_000017.11:81252653:G:A p.(Arg496Cys) NC_000017.11:81252653:G:A Identity +NM_001362965.2:c.1771G>A NP_001349894.1:p.Gly591Arg NC_000008.11:138152703:C:T p.(Gly591Arg) NC_000008.11:138152703:C:T p.(Gly591Arg) NC_000008.11:138152703:C:T Identity +NM_001288950.2:c.1313G>A NP_001275879.1:p.Arg438Lys NC_000003.12:131018705:C:T p.(Arg438Lys) NC_000003.12:131018705:C:T p.(Arg438Lys) NC_000003.12:131018705:C:T Identity +NM_004714.3:c.1474G>A NP_004705.1:p.Gly492Ser NC_000019.10:39826223:C:T p.(Gly492Ser) NC_000019.10:39826223:C:T p.(Gly492Ser) NC_000019.10:39826223:C:T Identity +NM_001329748.1:c.59C>A NP_001316677.1:p.Pro20Gln NC_000016.10:83968706:C:A p.(Pro20Gln) NC_000016.10:83968706:C:A p.(Pro20Gln) NC_000016.10:83968706:C:A Identity +NM_001040456.3:c.872T>C NP_001035546.1:p.Met291Thr NC_000007.14:75888125:T:C p.(Met291Thr) NC_000007.14:75888125:T:C p.(Met291Thr) NC_000007.14:75888125:T:C Identity +NM_145252.3:c.79T>C NP_660295.3:p.Tyr27His NC_000016.10:2830719:T:C p.(Tyr27His) NC_000016.10:2830719:T:C p.(Tyr27His) NC_000016.10:2830719:T:C Identity +NM_005502.4:c.6510G>C NP_005493.2:p.Glu2170Asp NC_000009.12:104785530:C:G p.(Glu2170Asp) NC_000009.12:104785530:C:G p.(Glu2170Asp) NC_000009.12:104785530:C:G Identity +NM_030793.5:c.2335C>T NP_110420.3:p.His779Tyr NC_000005.10:148427628:C:T p.(His779Tyr) NC_000005.10:148427628:C:T p.(His779Tyr) NC_000005.10:148427628:C:T Identity +NM_022481.6:c.1106T>A NP_071926.4:p.Met369Lys NC_000005.10:141672912:A:T p.(Met369Lys) NC_000005.10:141672912:A:T p.(Met369Lys) NC_000005.10:141672912:A:T Identity +NM_001277115.2:c.11711T>A NP_001264044.1:p.Leu3904Gln NC_000007.14:21867878:T:A p.(Leu3904Gln) NC_000007.14:21867878:T:A p.(Leu3904Gln) NC_000007.14:21867878:T:A Identity +NM_001366660.1:c.215G>C NP_001353589.1:p.Arg72Pro NC_000022.11:46626935:G:C p.(Arg72Pro) NC_000022.11:46626935:G:C p.(Arg72Pro) NC_000022.11:46626935:G:C Identity +NM_002332.3:c.12584C>A NP_002323.2:p.Pro4195His NC_000012.12:57210309:C:A p.(Pro4195His) NC_000012.12:57210309:C:A p.(Pro4195His) NC_000012.12:57210309:C:A Identity +NM_001384475.1:c.5477C>T NP_001371404.1:p.Thr1826Ile NC_000018.10:75063197:C:T p.(Thr1826Ile) NC_000018.10:75063197:C:T p.(Thr1826Ile) NC_000018.10:75063197:C:T Identity +NM_024119.3:c.218G>A NP_077024.2:p.Gly73Glu NC_000017.11:42111447:C:T p.(Gly73Glu) NC_000017.11:42111447:C:T p.(Gly73Glu) NC_000017.11:42111447:C:T Identity +NM_001244889.2:c.1235C>G NP_001231818.1:p.Pro412Arg NC_000010.11:71291082:C:G p.(Pro412Arg) NC_000010.11:71291082:C:G p.(Pro412Arg) NC_000010.11:71291082:C:G Identity +NM_005530.3:c.502A>G NP_005521.1:p.Ile168Val NC_000015.10:78162257:A:G p.(Ile168Val) NC_000015.10:78162257:A:G p.(Ile168Val) NC_000015.10:78162257:A:G Identity +NM_138689.3:c.414G>A NP_619634.1:p.Met138Ile NC_000011.10:64244783:C:T p.(Met138Ile) NC_000011.10:64244783:C:T p.(Met138Ile) NC_000011.10:64244783:C:T Identity +NM_001042468.3:c.57G>C NP_001035933.3:p.Trp19Cys NC_000007.14:56064367:G:C p.(Trp19Cys) NC_000007.14:56064367:G:C p.(Trp19Cys) NC_000007.14:56064367:G:C Identity +NM_001145268.2:c.818T>C NP_001138740.2:p.Met273Thr NC_000007.14:102772432:T:C p.(Met273Thr) NC_000007.14:102772432:T:C p.(Met273Thr) NC_000007.14:102772432:T:C Identity +NM_182706.5:c.4711A>C NP_874365.3:p.Lys1571Gln NC_000008.11:143791724:T:G p.(Lys1571Gln) NC_000008.11:143791724:T:G p.(Lys1571Gln) NC_000008.11:143791724:T:G Identity +NM_001135669.2:c.317C>T NP_001129141.1:p.Thr106Met NC_000001.11:180803480:C:T p.(Thr106Met) NC_000001.11:180803480:C:T p.(Thr106Met) NC_000001.11:180803480:C:T Identity +NM_001184937.2:c.1885A>G NP_001171866.1:p.Lys629Glu NC_000002.12:120160971:A:G p.(Lys629Glu) NC_000002.12:120160971:A:G p.(Lys629Glu) NC_000002.12:120160971:A:G Identity +NM_001384272.1:c.637C>T NP_001371201.1:p.Arg213Cys NC_000006.12:55255369:C:T p.(Arg213Cys) NC_000006.12:55255369:C:T p.(Arg213Cys) NC_000006.12:55255369:C:T Identity +NM_001242317.2:c.1151G>A NP_001229246.1:p.Arg384His NC_000003.12:185473102:G:A p.(Arg384His) NC_000003.12:185473102:G:A p.(Arg384His) NC_000003.12:185473102:G:A Identity +NM_001141917.2:c.2789T>G NP_001135389.1:p.Leu930Arg NC_000009.12:34724450:A:C p.(Leu930Arg) NC_000009.12:34724450:A:C p.(Leu930Arg) NC_000009.12:34724450:A:C Identity +NM_001382629.1:c.298G>A NP_001369558.1:p.Val100Ile NC_000006.12:73638495:C:T p.(Val100Ile) NC_000006.12:73638495:C:T p.(Val100Ile) NC_000006.12:73638495:C:T Identity +NM_001282640.2:c.1024G>A NP_001269569.1:p.Val342Ile NC_000009.12:112111800:C:T p.(Val342Ile) NC_000009.12:112111800:C:T p.(Val342Ile) NC_000009.12:112111800:C:T Identity +NM_001375428.1:c.1057G>A NP_001362357.1:p.Gly353Arg NC_000001.11:210242322:G:A p.(Gly353Arg) NC_000001.11:210242322:G:A p.(Gly353Arg) NC_000001.11:210242322:G:A Identity +NM_001315529.2:c.3401G>T NP_001302458.1:p.Cys1134Phe NC_000021.9:46389345:G:T p.(Cys1134Phe) NC_000021.9:46389345:G:T p.(Cys1134Phe) NC_000021.9:46389345:G:T Identity +NM_138774.4:c.478G>A NP_620129.2:p.Asp160Asn NC_000019.10:900143:C:T p.(Asp160Asn) NC_000019.10:900143:C:T p.(Asp160Asn) NC_000019.10:900143:C:T Identity +NM_003906.5:c.3008A>G NP_003897.2:p.Gln1003Arg NC_000021.9:46265947:T:C p.(Gln1003Arg) NC_000021.9:46265947:T:C p.(Gln1003Arg) NC_000021.9:46265947:T:C Identity +NM_001242498.2:c.520C>T NP_001229427.1:p.Leu174Phe NC_000017.11:75267581:G:A p.(Leu174Phe) NC_000017.11:75267581:G:A p.(Leu174Phe) NC_000017.11:75267581:G:A Identity +NM_001282933.2:c.2390C>G NP_001269862.1:p.Pro797Arg NC_000020.11:33791341:C:G p.(Pro797Arg) NC_000020.11:33791341:C:G p.(Pro797Arg) NC_000020.11:33791341:C:G Identity +NM_001193529.3:c.1081A>G NP_001180458.1:p.Ile361Val NC_000017.11:34939203:T:C p.(Ile361Val) NC_000017.11:34939203:T:C p.(Ile361Val) NC_000017.11:34939203:T:C Identity +NM_003718.5:c.4039G>T NP_003709.3:p.Ala1347Ser NC_000007.14:40094479:G:T p.(Ala1347Ser) NC_000007.14:40094479:G:T p.(Ala1347Ser) NC_000007.14:40094479:G:T Identity +NM_013363.4:c.401G>A NP_037495.1:p.Gly134Asp NC_000003.12:142848263:C:T p.(Gly134Asp) NC_000003.12:142848263:C:T p.(Gly134Asp) NC_000003.12:142848263:C:T Identity +NM_020121.4:c.598A>G NP_064506.3:p.Lys200Glu NC_000013.11:96013368:T:C p.(Lys200Glu) NC_000013.11:96013368:T:C p.(Lys200Glu) NC_000013.11:96013368:T:C Identity +NM_018264.4:c.1897G>A NP_060734.2:p.Glu633Lys NC_000007.14:67195256:G:A p.(Glu633Lys) NC_000007.14:67195256:G:A p.(Glu633Lys) NC_000007.14:67195256:G:A Identity +NM_015954.4:c.556C>T NP_057038.2:p.His186Tyr NC_000012.12:15982354:C:T p.(His186Tyr) NC_000012.12:15982354:C:T p.(His186Tyr) NC_000012.12:15982354:C:T Identity +NM_018463.4:c.218T>A NP_060933.3:p.Val73Glu NC_000012.12:2817933:T:A p.(Val73Glu) NC_000012.12:2817933:T:A p.(Val73Glu) NC_000012.12:2817933:T:A Identity +NM_001146003.2:c.163G>C NP_001139475.1:p.Glu55Gln NC_000003.12:131029870:G:C p.(Glu55Gln) NC_000003.12:131029870:G:C p.(Glu55Gln) NC_000003.12:131029870:G:C Identity +NM_000096.4:c.3123T>A NP_000087.2:p.His1041Gln NC_000003.12:149176307:A:T p.(His1041Gln) NC_000003.12:149176307:A:T p.(His1041Gln) NC_000003.12:149176307:A:T Identity +NM_020733.2:c.3167A>C NP_065784.1:p.Gln1056Pro NC_000003.12:125009730:T:G p.(Gln1056Pro) NC_000003.12:125009730:T:G p.(Gln1056Pro) NC_000003.12:125009730:T:G Identity +NM_002901.4:c.11G>C NP_002892.1:p.Gly4Ala NC_000011.10:32091206:G:C p.(Gly4Ala) NC_000011.10:32091206:G:C p.(Gly4Ala) NC_000011.10:32091206:G:C Identity +NM_001142782.2:c.2386G>T NP_001136254.1:p.Ala796Ser NC_000001.11:113651151:G:T p.(Ala796Ser) NC_000001.11:113651151:G:T p.(Ala796Ser) NC_000001.11:113651151:G:T Identity +NM_001144060.2:c.1505C>G NP_001137532.1:p.Pro502Arg NC_000006.12:138432839:G:C p.(Pro502Arg) NC_000006.12:138432839:G:C p.(Pro502Arg) NC_000006.12:138432839:G:C Identity +NM_001042404.2:c.734C>T NP_001035863.1:p.Thr245Ile NC_000001.11:243191391:G:A p.(Thr245Ile) NC_000001.11:243191391:G:A p.(Thr245Ile) NC_000001.11:243191391:G:A Identity +NM_133638.6:c.1801G>A NP_598377.4:p.Val601Ile NC_000005.10:129641888:G:A p.(Val601Ile) NC_000005.10:129641888:G:A p.(Val601Ile) NC_000005.10:129641888:G:A Identity +NM_173651.4:c.15146A>C NP_775922.3:p.Asp5049Ala NC_000002.12:185804451:A:C p.(Asp5049Ala) NC_000002.12:185804451:A:C p.(Asp5049Ala) NC_000002.12:185804451:A:C Identity +NM_001135721.3:c.526A>G NP_001129193.1:p.Thr176Ala NC_000008.11:22283133:A:G p.(Thr176Ala) NC_000008.11:22283133:A:G p.(Thr176Ala) NC_000008.11:22283133:A:G Identity +NM_014607.4:c.1088C>T NP_055422.1:p.Ala363Val NC_000002.12:135778981:C:T p.(Ala363Val) NC_000002.12:135778981:C:T p.(Ala363Val) NC_000002.12:135778981:C:T Identity +NM_002458.3:c.9556A>G NP_002449.2:p.Thr3186Ala NC_000011.10:1246435:A:G p.(Thr3186Ala) NC_000011.10:1246435:A:G p.(Thr3186Ala) NC_000011.10:1246435:A:G Identity +NM_032489.3:c.415G>A NP_115878.2:p.Glu139Lys NC_000012.12:6645279:C:T p.(Glu139Lys) NC_000012.12:6645279:C:T p.(Glu139Lys) NC_000012.12:6645279:C:T Identity +NM_001006943.3:c.1258G>A NP_001006944.1:p.Asp420Asn NC_000001.11:22589148:G:A p.(Asp420Asn) NC_000001.11:22589148:G:A p.(Asp420Asn) NC_000001.11:22589148:G:A Identity +NM_001105077.4:c.33C>A NP_001098547.3:p.Phe11Leu NC_000003.12:169143802:G:T p.(Phe11Leu) NC_000003.12:169143802:G:T p.(Phe11Leu) NC_000003.12:169143802:G:T Identity +NM_001184732.2:c.490G>T NP_001171661.1:p.Gly164Cys NC_000011.10:62999789:C:A p.(Gly164Cys) NC_000011.10:62999789:C:A p.(Gly164Cys) NC_000011.10:62999789:C:A Identity +NM_148901.2:c.658C>T NP_683699.1:p.Arg220Cys NC_000001.11:1203700:G:A p.(Arg220Cys) NC_000001.11:1203700:G:A p.(Arg220Cys) NC_000001.11:1203700:G:A Identity +NM_001331158.2:c.302C>T NP_001318087.1:p.Pro101Leu NC_000014.9:59475992:G:A p.(Pro101Leu) NC_000014.9:59475992:G:A p.(Pro101Leu) NC_000014.9:59475992:G:A Identity +NM_001199172.2:c.251G>A NP_001186101.1:p.Arg84His NC_000017.11:76882219:G:A p.(Arg84His) NC_000017.11:76882219:G:A p.(Arg84His) NC_000017.11:76882219:G:A Identity +NM_017742.6:c.3505C>A NP_060212.4:p.Pro1169Thr NC_000018.10:62576546:C:A p.(Pro1169Thr) NC_000018.10:62576546:C:A p.(Pro1169Thr) NC_000018.10:62576546:C:A Identity +NM_001317906.1:c.2993A>G NP_001304835.1:p.Glu998Gly NC_000008.11:25507703:A:G p.(Glu998Gly) NC_000008.11:25507703:A:G p.(Glu998Gly) NC_000008.11:25507703:A:G Identity +NM_001201427.2:c.506G>C NP_001188356.1:p.Cys169Ser NC_000006.12:39867586:G:C p.(Cys169Ser) NC_000006.12:39867586:G:C p.(Cys169Ser) NC_000006.12:39867586:G:C Identity +NM_001080475.3:c.1088T>C NP_001073944.1:p.Leu363Pro NC_000002.12:207977108:A:G p.(Leu363Pro) NC_000002.12:207977108:A:G p.(Leu363Pro) NC_000002.12:207977108:A:G Identity +NM_006678.5:c.458C>T NP_006669.1:p.Thr153Met NC_000017.11:74542929:G:A p.(Thr153Met) NC_000017.11:74542929:G:A p.(Thr153Met) NC_000017.11:74542929:G:A Identity +NM_014830.3:c.971A>G NP_055645.1:p.Asp324Gly NC_000012.12:57003946:T:C p.(Asp324Gly) NC_000012.12:57003946:T:C p.(Asp324Gly) NC_000012.12:57003946:T:C Identity +NM_001370076.1:c.841G>A NP_001357005.1:p.Gly281Ser NC_000007.14:7573315:G:A p.(Gly281Ser) NC_000007.14:7573315:G:A p.(Gly281Ser) NC_000007.14:7573315:G:A Identity +NM_001393381.1:c.3352C>A NP_001380310.1:p.Gln1118Lys NC_000004.12:56323540:C:A p.(Gln1118Lys) NC_000004.12:56323540:C:A p.(Gln1118Lys) NC_000004.12:56323540:C:A Identity +NM_001304947.3:c.371A>G NP_001291876.1:p.His124Arg NC_000017.11:8369995:T:C p.(His124Arg) NC_000017.11:8369995:T:C p.(His124Arg) NC_000017.11:8369995:T:C Identity +NM_014396.4:c.1308T>G NP_055211.2:p.Phe436Leu NC_000007.14:38765600:A:C p.(Phe436Leu) NC_000007.14:38765600:A:C p.(Phe436Leu) NC_000007.14:38765600:A:C Identity +NM_032222.3:c.2068C>G NP_115598.2:p.Arg690Gly NC_000007.14:30882276:C:G p.(Arg690Gly) NC_000007.14:30882276:C:G p.(Arg690Gly) NC_000007.14:30882276:C:G Identity +NM_145168.3:c.733C>T NP_660151.2:p.His245Tyr NC_000016.10:81999559:G:A p.(His245Tyr) NC_000016.10:81999559:G:A p.(His245Tyr) NC_000016.10:81999559:G:A Identity +NM_003800.5:c.1294G>C NP_003791.3:p.Glu432Gln NC_000006.12:88801607:C:G p.(Glu432Gln) NC_000006.12:88801607:C:G p.(Glu432Gln) NC_000006.12:88801607:C:G Identity +NM_001570.4:c.1229C>T NP_001561.3:p.Thr410Met NC_000003.12:10226389:C:T p.(Thr410Met) NC_000003.12:10226389:C:T p.(Thr410Met) NC_000003.12:10226389:C:T Identity +NM_006133.3:c.757G>A NP_006124.1:p.Ala253Thr NC_000011.10:61728272:G:A p.(Ala253Thr) NC_000011.10:61728272:G:A p.(Ala253Thr) NC_000011.10:61728272:G:A Identity +NM_001164665.2:c.3787A>G NP_001158137.1:p.Met1263Val NC_000007.14:138899014:T:C p.(Met1263Val) NC_000007.14:138899014:T:C p.(Met1263Val) NC_000007.14:138899014:T:C Identity +NM_005140.3:c.448C>A NP_005131.1:p.Pro150Thr NC_000023.11:151740866:C:A p.(Pro150Thr) NC_000023.11:151740866:C:A p.(Pro150Thr) NC_000023.11:151740866:C:A Identity +NM_005199.5:c.1354C>T NP_005190.4:p.Arg452Trp NC_000002.12:232544875:C:T p.(Arg452Trp) NC_000002.12:232544875:C:T p.(Arg452Trp) NC_000002.12:232544875:C:T Identity +NM_002154.4:c.1596A>T NP_002145.3:p.Glu532Asp NC_000005.10:133092734:A:T p.(Glu532Asp) NC_000005.10:133092734:A:T p.(Glu532Asp) NC_000005.10:133092734:A:T Identity +NM_001308047.2:c.7126G>A NP_001294976.1:p.Gly2376Ser NC_000009.12:76705147:C:T p.(Gly2376Ser) NC_000009.12:76705147:C:T p.(Gly2376Ser) NC_000009.12:76705147:C:T Identity +NM_001286561.2:c.4669A>C NP_001273490.1:p.Lys1557Gln NC_000011.10:72010793:T:G p.(Lys1557Gln) NC_000011.10:72010793:T:G p.(Lys1557Gln) NC_000011.10:72010793:T:G Identity +NM_001098533.3:c.82G>A NP_001092003.2:p.Val28Met NC_000016.10:89691504:G:A p.(Val28Met) NC_000016.10:89691504:G:A p.(Val28Met) NC_000016.10:89691504:G:A Identity +NM_052967.2:c.418G>A NP_443199.1:p.Gly140Arg NC_000006.12:29487484:C:T p.(Gly140Arg) NC_000006.12:29487484:C:T p.(Gly140Arg) NC_000006.12:29487484:C:T Identity +NM_001308120.2:c.394C>G NP_001295049.1:p.Arg132Gly NC_000014.9:44962814:C:G p.(Arg132Gly) NC_000014.9:44962814:C:G p.(Arg132Gly) NC_000014.9:44962814:C:G Identity +NM_001318360.2:c.3601T>C NP_001305289.1:p.Phe1201Leu NC_000009.12:108869170:A:G p.(Phe1201Leu) NC_000009.12:108869170:A:G p.(Phe1201Leu) NC_000009.12:108869170:A:G Identity +NM_000930.5:c.1311G>C NP_000921.1:p.Gln437His NC_000008.11:42179977:C:G p.(Gln437His) NC_000008.11:42179977:C:G p.(Gln437His) NC_000008.11:42179977:C:G Identity +NM_005055.5:c.634A>G NP_005046.2:p.Met212Val NC_000011.10:47442711:T:C p.(Met212Val) NC_000011.10:47442711:T:C p.(Met212Val) NC_000011.10:47442711:T:C Identity +NM_001287489.2:c.2581G>A NP_001274418.1:p.Ala861Thr NC_000002.12:26476985:C:T p.(Ala861Thr) NC_000002.12:26476985:C:T p.(Ala861Thr) NC_000002.12:26476985:C:T Identity +NM_000255.4:c.1297T>C NP_000246.2:p.Cys433Arg NC_000006.12:49451500:A:G p.(Cys433Arg) NC_000006.12:49451500:A:G p.(Cys433Arg) NC_000006.12:49451500:A:G Identity +NM_175060.3:c.722A>T NP_778230.1:p.Asp241Val NC_000014.9:38255300:T:A p.(Asp241Val) NC_000014.9:38255300:T:A p.(Asp241Val) NC_000014.9:38255300:T:A Identity +NM_001144950.2:c.2674G>A NP_001138422.1:p.Asp892Asn NC_000019.10:55501089:G:A p.(Asp892Asn) NC_000019.10:55501089:G:A p.(Asp892Asn) NC_000019.10:55501089:G:A Identity +NM_001195010.2:c.625A>G NP_001181939.1:p.Lys209Glu NC_000001.11:24337711:A:G p.(Lys209Glu) NC_000001.11:24337711:A:G p.(Lys209Glu) NC_000001.11:24337711:A:G Identity +NM_001410991.1:c.253G>A NP_001397920.1:p.Glu85Lys NC_000009.12:115090765:C:T p.(Glu85Lys) NC_000009.12:115090765:C:T p.(Glu85Lys) NC_000009.12:115090765:C:T Identity +NM_001014809.3:c.521C>T NP_001014809.1:p.Ala174Val NC_000004.12:5861159:G:A p.(Ala174Val) NC_000004.12:5861159:G:A p.(Ala174Val) NC_000004.12:5861159:G:A Identity +NM_018904.3:c.1955A>G NP_061727.1:p.Lys652Arg NC_000005.10:140884222:A:G p.(Lys652Arg) NC_000005.10:140884222:A:G p.(Lys652Arg) NC_000005.10:140884222:A:G Identity +NM_018702.4:c.178G>A NP_061172.1:p.Asp60Asn NC_000010.11:1379082:C:T p.(Asp60Asn) NC_000010.11:1379082:C:T p.(Asp60Asn) NC_000010.11:1379082:C:T Identity +NM_005560.6:c.349G>C NP_005551.3:p.Ala117Pro NC_000020.11:62362500:C:G p.(Ala117Pro) NC_000020.11:62362500:C:G p.(Ala117Pro) NC_000020.11:62362500:C:G Identity +NM_001142800.2:c.2965A>C NP_001136272.1:p.Asn989His NC_000006.12:64886723:T:G p.(Asn989His) NC_000006.12:64886723:T:G p.(Asn989His) NC_000006.12:64886723:T:G Identity +NM_080284.3:c.1952A>G NP_525023.2:p.Asp651Gly NC_000017.11:69113310:T:C p.(Asp651Gly) NC_000017.11:69113310:T:C p.(Asp651Gly) NC_000017.11:69113310:T:C Identity +NM_001145901.2:c.1249C>T NP_001139373.1:p.Arg417Cys NC_000019.10:38916231:G:A p.(Arg417Cys) NC_000019.10:38916231:G:A p.(Arg417Cys) NC_000019.10:38916231:G:A Identity +NM_173651.4:c.18053C>A NP_775922.3:p.Ser6018Tyr NC_000002.12:185807358:C:A p.(Ser6018Tyr) NC_000002.12:185807358:C:A p.(Ser6018Tyr) NC_000002.12:185807358:C:A Identity +NM_002787.5:c.4G>A NP_002778.1:p.Ala2Thr NC_000007.14:42932154:C:T p.(Ala2Thr) NC_000007.14:42932154:C:T p.(Ala2Thr) NC_000007.14:42932154:C:T Identity +NM_018008.4:c.811G>C NP_060478.3:p.Asp271His NC_000003.12:62372057:C:G p.(Asp271His) NC_000003.12:62372057:C:G p.(Asp271His) NC_000003.12:62372057:C:G Identity +NM_001135752.1:c.1537C>T NP_001129224.1:p.Pro513Ser NC_000010.11:73138053:G:A p.(Pro513Ser) NC_000010.11:73138053:G:A p.(Pro513Ser) NC_000010.11:73138053:G:A Identity +NM_016510.7:c.1276G>A NP_057594.5:p.Glu426Lys NC_000002.12:238098292:G:A p.(Glu426Lys) NC_000002.12:238098292:G:A p.(Glu426Lys) NC_000002.12:238098292:G:A Identity +NM_014503.3:c.4112T>C NP_055318.2:p.Val1371Ala NC_000012.12:101342455:T:C p.(Val1371Ala) NC_000012.12:101342455:T:C p.(Val1371Ala) NC_000012.12:101342455:T:C Identity +NM_001001957.2:c.874C>T NP_001001957.2:p.Leu292Phe NC_000001.11:247896459:C:T p.(Leu292Phe) NC_000001.11:247896459:C:T p.(Leu292Phe) NC_000001.11:247896459:C:T Identity +NM_001164615.2:c.1900G>A NP_001158087.1:p.Asp634Asn NC_000008.11:103330012:G:A p.(Asp634Asn) NC_000008.11:103330012:G:A p.(Asp634Asn) NC_000008.11:103330012:G:A Identity +NM_001142864.4:c.3781A>C NP_001136336.2:p.Lys1261Gln NC_000016.10:88726561:T:G p.(Lys1261Gln) NC_000016.10:88726561:T:G p.(Lys1261Gln) NC_000016.10:88726561:T:G Identity +NM_015001.3:c.6678T>G NP_055816.2:p.Ile2226Met NC_000001.11:15932917:T:G p.(Ile2226Met) NC_000001.11:15932917:T:G p.(Ile2226Met) NC_000001.11:15932917:T:G Identity +NM_001284271.2:c.761T>C NP_001271200.1:p.Met254Thr NC_000006.12:100848187:A:G p.(Met254Thr) NC_000006.12:100848187:A:G p.(Met254Thr) NC_000006.12:100848187:A:G Identity +NM_001166598.2:c.694T>C NP_001160070.1:p.Ser232Pro NC_000011.10:116790534:A:G p.(Ser232Pro) NC_000011.10:116790534:A:G p.(Ser232Pro) NC_000011.10:116790534:A:G Identity +NM_001870.4:c.400G>T NP_001861.2:p.Asp134Tyr NC_000003.12:148878673:G:T p.(Asp134Tyr) NC_000003.12:148878673:G:T p.(Asp134Tyr) NC_000003.12:148878673:G:T Identity +NM_001321468.1:c.587C>T NP_001308397.1:p.Ala196Val NC_000002.12:39769794:G:A p.(Ala196Val) NC_000002.12:39769794:G:A p.(Ala196Val) NC_000002.12:39769794:G:A Identity +NM_006909.3:c.1063C>G NP_008840.1:p.Gln355Glu NC_000005.10:81080690:C:G p.(Gln355Glu) NC_000005.10:81080690:C:G p.(Gln355Glu) NC_000005.10:81080690:C:G Identity +NM_001001670.3:c.4550C>T NP_001001670.1:p.Ser1517Phe NC_000009.12:81995019:C:T p.(Ser1517Phe) NC_000009.12:81995019:C:T p.(Ser1517Phe) NC_000009.12:81995019:C:T Identity +NM_000296.4:c.7112T>C NP_000287.4:p.Val2371Ala NC_000016.10:2106901:A:G p.(Val2371Ala) NC_000016.10:2106901:A:G p.(Val2371Ala) NC_000016.10:2106901:A:G Identity +NM_001017956.3:c.673C>A NP_001017956.1:p.Pro225Thr NC_000012.12:57715852:C:A p.(Pro225Thr) NC_000012.12:57715852:C:A p.(Pro225Thr) NC_000012.12:57715852:C:A Identity +NM_023917.2:c.179G>A NP_076406.1:p.Cys60Tyr NC_000012.12:10809896:C:T p.(Cys60Tyr) NC_000012.12:10809896:C:T p.(Cys60Tyr) NC_000012.12:10809896:C:T Identity +NM_198461.4:c.406G>T NP_940863.3:p.Ala136Ser NC_000002.12:100321687:C:A p.(Ala136Ser) NC_000002.12:100321687:C:A p.(Ala136Ser) NC_000002.12:100321687:C:A Identity +NM_001411016.1:c.2414A>G NP_001397945.1:p.His805Arg NC_000011.10:62602834:T:C p.(His805Arg) NC_000011.10:62602834:T:C p.(His805Arg) NC_000011.10:62602834:T:C Identity +NM_022491.3:c.252G>T NP_071936.2:p.Leu84Phe NC_000012.12:118384050:G:T p.(Leu84Phe) NC_000012.12:118384050:G:T p.(Leu84Phe) NC_000012.12:118384050:G:T Identity +NM_133448.3:c.3217A>G NP_597705.2:p.Ile1073Val NC_000012.12:129073957:T:C p.(Ile1073Val) NC_000012.12:129073957:T:C p.(Ile1073Val) NC_000012.12:129073957:T:C Identity +NM_001284206.1:c.2723G>A NP_001271135.1:p.Ser908Asn NC_000014.9:69053959:C:T p.(Ser908Asn) NC_000014.9:69053959:C:T p.(Ser908Asn) NC_000014.9:69053959:C:T Identity +NM_198465.4:c.527G>T NP_940867.2:p.Arg176Leu NC_000023.11:105895469:G:T p.(Arg176Leu) NC_000023.11:105895469:G:T p.(Arg176Leu) NC_000023.11:105895469:G:T Identity +NM_001025081.2:c.55G>A NP_001020252.1:p.Ala19Thr NC_000018.10:77016953:C:T p.(Ala19Thr) NC_000018.10:77016953:C:T p.(Ala19Thr) NC_000018.10:77016953:C:T Identity +NM_001003398.3:c.392A>G NP_001003398.1:p.Glu131Gly NC_000012.12:32216424:A:G p.(Glu131Gly) NC_000012.12:32216424:A:G p.(Glu131Gly) NC_000012.12:32216424:A:G Identity +NM_014714.4:c.245C>A NP_055529.2:p.Thr82Asn NC_000016.10:1602493:G:T p.(Thr82Asn) NC_000016.10:1602493:G:T p.(Thr82Asn) NC_000016.10:1602493:G:T Identity +NM_001308262.2:c.157G>A NP_001295191.1:p.Ala53Thr NC_000003.12:129549195:G:A p.(Ala53Thr) NC_000003.12:129549195:G:A p.(Ala53Thr) NC_000003.12:129549195:G:A Identity +NM_013264.5:c.49C>T NP_037396.3:p.Arg17Trp NC_000011.10:125904565:C:T p.(Arg17Trp) NC_000011.10:125904565:C:T p.(Arg17Trp) NC_000011.10:125904565:C:T Identity +NM_001005476.4:c.476A>G NP_001005476.1:p.Glu159Gly NC_000002.12:158621293:A:G p.(Glu159Gly) NC_000002.12:158621293:A:G p.(Glu159Gly) NC_000002.12:158621293:A:G Identity +NM_001127708.3:c.782A>T NP_001121180.2:p.Glu261Val NC_000001.11:186306623:A:T p.(Glu261Val) NC_000001.11:186306623:A:T p.(Glu261Val) NC_000001.11:186306623:A:T Identity +NM_032036.3:c.97A>T NP_114425.1:p.Ile33Phe NC_000014.9:94128615:T:A p.(Ile33Phe) NC_000014.9:94128615:T:A p.(Ile33Phe) NC_000014.9:94128615:T:A Identity +NM_130782.3:c.643C>G NP_570138.1:p.Arg215Gly NC_000001.11:192184488:C:G p.(Arg215Gly) NC_000001.11:192184488:C:G p.(Arg215Gly) NC_000001.11:192184488:C:G Identity +NM_001102654.2:c.365G>A NP_001096124.1:p.Ser122Asn NC_000012.12:5494539:G:A p.(Ser122Asn) NC_000012.12:5494539:G:A p.(Ser122Asn) NC_000012.12:5494539:G:A Identity +NM_005045.4:c.3541T>C NP_005036.2:p.Phe1181Leu NC_000007.14:103594490:A:G p.(Phe1181Leu) NC_000007.14:103594490:A:G p.(Phe1181Leu) NC_000007.14:103594490:A:G Identity +NM_001167667.3:c.1404G>T NP_001161139.1:p.Leu468Phe NC_000005.10:19520764:C:A p.(Leu468Phe) NC_000005.10:19520764:C:A p.(Leu468Phe) NC_000005.10:19520764:C:A Identity +NM_001346413.3:c.3329A>G NP_001333342.1:p.Asn1110Ser NC_000011.10:83169270:A:G p.(Asn1110Ser) NC_000011.10:83169270:A:G p.(Asn1110Ser) NC_000011.10:83169270:A:G Identity +NM_001317134.2:c.1475T>A NP_001304063.1:p.Val492Asp NC_000003.12:48519768:A:T p.(Val492Asp) NC_000003.12:48519768:A:T p.(Val492Asp) NC_000003.12:48519768:A:T Identity +NM_004528.4:c.250C>T NP_004519.1:p.Arg84Cys NC_000001.11:165654278:C:T p.(Arg84Cys) NC_000001.11:165654278:C:T p.(Arg84Cys) NC_000001.11:165654278:C:T Identity +NM_001348729.2:c.5257C>T NP_001335658.1:p.Leu1753Phe NC_000002.12:8730781:G:A p.(Leu1753Phe) NC_000002.12:8730781:G:A p.(Leu1753Phe) NC_000002.12:8730781:G:A Identity +NM_032871.4:c.421G>A NP_116260.2:p.Gly141Ser NC_000011.10:73392263:G:A p.(Gly141Ser) NC_000011.10:73392263:G:A p.(Gly141Ser) NC_000011.10:73392263:G:A Identity +NM_001345906.2:c.26A>G NP_001332835.1:p.His9Arg NC_000003.12:196561449:T:C p.(His9Arg) NC_000003.12:196561449:T:C p.(His9Arg) NC_000003.12:196561449:T:C Identity +NM_001145017.2:c.1187C>T NP_001138489.1:p.Pro396Leu NC_000005.10:151281093:G:A p.(Pro396Leu) NC_000005.10:151281093:G:A p.(Pro396Leu) NC_000005.10:151281093:G:A Identity +NM_152402.3:c.551A>G NP_689615.2:p.Tyr184Cys NC_000004.12:117084842:T:C p.(Tyr184Cys) NC_000004.12:117084842:T:C p.(Tyr184Cys) NC_000004.12:117084842:T:C Identity +NM_001242792.2:c.355G>A NP_001229721.1:p.Asp119Asn NC_000006.12:83661598:C:T p.(Asp119Asn) NC_000006.12:83661598:C:T p.(Asp119Asn) NC_000006.12:83661598:C:T Identity +NM_021044.4:c.1129C>A NP_066382.1:p.Pro377Thr NC_000012.12:49089920:G:T p.(Pro377Thr) NC_000012.12:49089920:G:T p.(Pro377Thr) NC_000012.12:49089920:G:T Identity +NM_001127357.2:c.1481T>C NP_001120829.1:p.Leu494Pro NC_000007.14:77940144:T:C p.(Leu494Pro) NC_000007.14:77940144:T:C p.(Leu494Pro) NC_000007.14:77940144:T:C Identity +NM_002154.4:c.191T>C NP_002145.3:p.Val64Ala NC_000005.10:133067441:T:C p.(Val64Ala) NC_000005.10:133067441:T:C p.(Val64Ala) NC_000005.10:133067441:T:C Identity +NM_001382422.1:c.2131G>A NP_001369351.1:p.Val711Met NC_000019.10:45213346:C:T p.(Val711Met) NC_000019.10:45213346:C:T p.(Val711Met) NC_000019.10:45213346:C:T Identity +NM_005537.5:c.109C>A NP_005528.4:p.Leu37Ile NC_000013.11:110715551:C:A p.(Leu37Ile) NC_000013.11:110715551:C:A p.(Leu37Ile) NC_000013.11:110715551:C:A Identity +NM_001158261.2:c.691G>A NP_001151733.1:p.Glu231Lys NC_000017.11:8730167:C:T p.(Glu231Lys) NC_000017.11:8730167:C:T p.(Glu231Lys) NC_000017.11:8730167:C:T Identity +NM_001001923.1:c.255G>A NP_001001923.1:p.Met85Ile NC_000009.12:122789186:G:A p.(Met85Ile) NC_000009.12:122789186:G:A p.(Met85Ile) NC_000009.12:122789186:G:A Identity +NM_001320185.2:c.79G>A NP_001307114.1:p.Gly27Ser NC_000001.11:90005019:G:A p.(Gly27Ser) NC_000001.11:90005019:G:A p.(Gly27Ser) NC_000001.11:90005019:G:A Identity +NM_032142.4:c.6896A>T NP_115518.3:p.His2299Leu NC_000018.10:13103532:A:T p.(His2299Leu) NC_000018.10:13103532:A:T p.(His2299Leu) NC_000018.10:13103532:A:T Identity +NM_005249.5:c.1337A>T NP_005240.3:p.Gln446Leu NC_000014.9:28768615:A:T p.(Gln446Leu) NC_000014.9:28768615:A:T p.(Gln446Leu) NC_000014.9:28768615:A:T Identity +NM_001010927.3:c.635C>T NP_001010927.2:p.Ala212Val NC_000006.12:155249877:C:T p.(Ala212Val) NC_000006.12:155249877:C:T p.(Ala212Val) NC_000006.12:155249877:C:T Identity +NM_022451.11:c.529G>A NP_071896.8:p.Glu177Lys NC_000010.11:94356570:C:T p.(Glu177Lys) NC_000010.11:94356570:C:T p.(Glu177Lys) NC_000010.11:94356570:C:T Identity +NM_001410194.1:c.673G>T NP_001397123.1:p.Val225Leu NC_000002.12:108470304:G:T p.(Val225Leu) NC_000002.12:108470304:G:T p.(Val225Leu) NC_000002.12:108470304:G:T Identity +NM_001042683.3:c.1591C>T NP_001036148.2:p.Pro531Ser NC_000006.12:145943789:G:A p.(Pro531Ser) NC_000006.12:145943789:G:A p.(Pro531Ser) NC_000006.12:145943789:G:A Identity +NM_139055.4:c.251T>A NP_620686.1:p.Leu84Gln NC_000011.10:130449223:T:A p.(Leu84Gln) NC_000011.10:130449223:T:A p.(Leu84Gln) NC_000011.10:130449223:T:A Identity +NM_000876.4:c.5804G>C NP_000867.3:p.Arg1935Thr NC_000006.12:160080245:G:C p.(Arg1935Thr) NC_000006.12:160080245:G:C p.(Arg1935Thr) NC_000006.12:160080245:G:C Identity +NM_015692.5:c.4403C>A NP_056507.3:p.Ala1468Glu NC_000019.10:16903705:G:T p.(Ala1468Glu) NC_000019.10:16903705:G:T p.(Ala1468Glu) NC_000019.10:16903705:G:T Identity +NM_014675.5:c.4093C>T NP_055490.4:p.Arg1365Cys NC_000001.11:16960817:C:T p.(Arg1365Cys) NC_000001.11:16960817:C:T p.(Arg1365Cys) NC_000001.11:16960817:C:T Identity +NM_018012.4:c.3614G>T NP_060482.2:p.Gly1205Val NC_000001.11:245686596:G:T p.(Gly1205Val) NC_000001.11:245686596:G:T p.(Gly1205Val) NC_000001.11:245686596:G:T Identity +NM_001353365.2:c.287C>T NP_001340294.1:p.Pro96Leu NC_000015.10:81136642:C:T p.(Pro96Leu) NC_000015.10:81136642:C:T p.(Pro96Leu) NC_000015.10:81136642:C:T Identity +NM_001346810.2:c.734C>T NP_001333739.1:p.Ser245Leu NC_000008.11:1549186:C:T p.(Ser245Leu) NC_000008.11:1549186:C:T p.(Ser245Leu) NC_000008.11:1549186:C:T Identity +NM_002458.3:c.1970G>A NP_002449.2:p.Arg657Gln NC_000011.10:1232674:G:A p.(Arg657Gln) NC_000011.10:1232674:G:A p.(Arg657Gln) NC_000011.10:1232674:G:A Identity +NM_001080555.4:c.1016A>G NP_001074024.1:p.Lys339Arg NC_000012.12:13084973:T:C p.(Lys339Arg) NC_000012.12:13084973:T:C p.(Lys339Arg) NC_000012.12:13084973:T:C Identity +NM_012416.4:c.517C>A NP_036548.1:p.Gln173Lys NC_000009.12:6015090:G:T p.(Gln173Lys) NC_000009.12:6015090:G:T p.(Gln173Lys) NC_000009.12:6015090:G:T Identity +NM_005502.4:c.4505G>A NP_005493.2:p.Gly1502Glu NC_000009.12:104804679:C:T p.(Gly1502Glu) NC_000009.12:104804679:C:T p.(Gly1502Glu) NC_000009.12:104804679:C:T Identity +NM_001033583.3:c.923A>G NP_001028755.2:p.Asn308Ser NC_000023.11:23705577:T:C p.(Asn308Ser) NC_000023.11:23705577:T:C p.(Asn308Ser) NC_000023.11:23705577:T:C Identity +NM_152279.4:c.1000G>T NP_689492.3:p.Val334Phe NC_000019.10:37186536:C:A p.(Val334Phe) NC_000019.10:37186536:C:A p.(Val334Phe) NC_000019.10:37186536:C:A Identity +LRG_518t2:c.958C>A LRG_518p2:p.Pro320Thr NC_000010.11:43106465:C:A ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_518t2 not found +NM_001311193.2:c.1111A>C NP_001298122.2:p.Ser371Arg NC_000001.11:186950682:A:C p.(Ser371Arg) NC_000001.11:186950682:A:C p.(Ser371Arg) NC_000001.11:186950682:A:C Identity +NM_001105.5:c.1054A>G NP_001096.1:p.Ile352Val NC_000002.12:157765932:T:C p.(Ile352Val) NC_000002.12:157765932:T:C p.(Ile352Val) NC_000002.12:157765932:T:C Identity +NM_007153.3:c.2798G>A NP_009084.2:p.Ser933Asn NC_000019.10:21972235:C:T p.(Ser933Asn) NC_000019.10:21972235:C:T p.(Ser933Asn) NC_000019.10:21972235:C:T Identity +NM_175922.4:c.881C>G NP_787118.2:p.Thr294Arg NC_000006.12:166307261:G:C p.(Thr294Arg) NC_000006.12:166307261:G:C p.(Thr294Arg) NC_000006.12:166307261:G:C Identity +NM_003906.5:c.4489C>T NP_003897.2:p.Pro1497Ser NC_000021.9:46246687:G:A p.(Pro1497Ser) NC_000021.9:46246687:G:A p.(Pro1497Ser) NC_000021.9:46246687:G:A Identity +NM_001005271.3:c.2308C>G NP_001005271.2:p.Pro770Ala NC_000017.11:7898574:C:G p.(Pro770Ala) NC_000017.11:7898574:C:G p.(Pro770Ala) NC_000017.11:7898574:C:G Identity +NM_002557.4:c.53A>T NP_002548.3:p.Asp18Val NC_000001.11:111427063:T:A p.(Asp18Val) NC_000001.11:111427063:T:A p.(Asp18Val) NC_000001.11:111427063:T:A Identity +NM_001083124.1:c.644C>T NP_001076593.1:p.Ala215Val NC_000009.12:66989853:G:A p.(Ala215Val) NC_000009.12:66989853:G:A p.(Ala215Val) NC_000009.12:66989853:G:A Identity +NM_001098816.3:c.474G>T NP_001092286.2:p.Glu158Asp NC_000011.10:79064756:C:A p.(Glu158Asp) NC_000011.10:79064756:C:A p.(Glu158Asp) NC_000011.10:79064756:C:A Identity +NM_001277078.1:c.371C>T NP_001264007.1:p.Thr124Ile NC_000005.10:79447068:G:A p.(Thr124Ile) NC_000005.10:79447068:G:A p.(Thr124Ile) NC_000005.10:79447068:G:A Identity +NM_001001560.3:c.382G>A NP_001001560.1:p.Glu128Lys NC_000022.11:37620315:G:A p.(Glu128Lys) NC_000022.11:37620315:G:A p.(Glu128Lys) NC_000022.11:37620315:G:A Identity +NM_001270942.1:c.266G>A NP_001257871.1:p.Cys89Tyr NC_000002.12:207124240:C:T p.(Cys89Tyr) NC_000002.12:207124240:C:T p.(Cys89Tyr) NC_000002.12:207124240:C:T Identity +NM_001193552.2:c.807T>G NP_001180481.1:p.Ile269Met NC_000019.10:36750232:A:C p.(Ile269Met) NC_000019.10:36750232:A:C p.(Ile269Met) NC_000019.10:36750232:A:C Identity +NM_001129890.2:c.508G>A NP_001123362.1:p.Glu170Lys NC_000008.11:91133233:G:A p.(Glu170Lys) NC_000008.11:91133233:G:A p.(Glu170Lys) NC_000008.11:91133233:G:A Identity +NM_001377344.1:c.3112C>A NP_001364273.1:p.Pro1038Thr NC_000003.12:66380357:G:T p.(Pro1038Thr) NC_000003.12:66380357:G:T p.(Pro1038Thr) NC_000003.12:66380357:G:T Identity +NM_001199172.2:c.1504C>A NP_001186101.1:p.Pro502Thr NC_000017.11:76938062:C:A p.(Pro502Thr) NC_000017.11:76938062:C:A p.(Pro502Thr) NC_000017.11:76938062:C:A Identity +NM_001130006.2:c.1762C>G NP_001123478.2:p.Gln588Glu NC_000016.10:11875856:G:C p.(Gln588Glu) NC_000016.10:11875856:G:C p.(Gln588Glu) NC_000016.10:11875856:G:C Identity +NM_007189.3:c.1119G>C NP_009120.1:p.Glu373Asp NC_000007.14:151218771:C:G p.(Glu373Asp) NC_000007.14:151218771:C:G p.(Glu373Asp) NC_000007.14:151218771:C:G Identity +NM_001158261.2:c.556A>G NP_001151733.1:p.Lys186Glu NC_000017.11:8735190:T:C p.(Lys186Glu) NC_000017.11:8735190:T:C p.(Lys186Glu) NC_000017.11:8735190:T:C Identity +NM_001277225.2:c.421G>C NP_001264154.1:p.Glu141Gln NC_000004.12:22747426:G:C p.(Glu141Gln) NW_025791774.1:69219:G:C p.(Glu141Gln) NC_000004.12:69219:T:C Identity +NM_017553.3:c.626A>G NP_060023.1:p.Lys209Arg NC_000015.10:41087593:T:C p.(Lys209Arg) NC_000015.10:41087593:T:C p.(Lys209Arg) NC_000015.10:41087593:T:C Identity +NM_001243245.3:c.612A>T NP_001230174.1:p.Arg204Ser NC_000011.10:57387498:T:A p.(Arg204Ser) NC_000011.10:57387498:T:A p.(Arg204Ser) NC_000011.10:57387498:T:A Identity +NM_001085447.2:c.533A>G NP_001078916.1:p.Lys178Arg NC_000002.12:169674704:T:C p.(Lys178Arg) NC_000002.12:169674704:T:C p.(Lys178Arg) NC_000002.12:169674704:T:C Identity +NM_001178130.3:c.2723T>C NP_001171601.1:p.Ile908Thr NC_000004.12:109988697:T:C p.(Ile908Thr) NC_000004.12:109988697:T:C p.(Ile908Thr) NC_000004.12:109988697:T:C Identity +NM_001193552.2:c.968C>T NP_001180481.1:p.Thr323Ile NC_000019.10:36750071:G:A p.(Thr323Ile) NC_000019.10:36750071:G:A p.(Thr323Ile) NC_000019.10:36750071:G:A Identity +NM_001145674.3:c.823A>G NP_001139146.1:p.Thr275Ala NC_000004.12:185624305:T:C p.(Thr275Ala) NC_000004.12:185624305:T:C p.(Thr275Ala) NC_000004.12:185624305:T:C Identity +NM_001166269.2:c.310G>T NP_001159741.1:p.Val104Leu NC_000014.9:22952347:C:A p.(Val104Leu) NC_000014.9:22952347:C:A p.(Val104Leu) NC_000014.9:22952347:C:A Identity +NM_001032999.3:c.194A>G NP_001028171.1:p.Asn65Ser NC_000020.11:33611108:A:G p.(Asn65Ser) NC_000020.11:33611108:A:G p.(Asn65Ser) NC_000020.11:33611108:A:G Identity +NM_001080449.3:c.2776A>G NP_001073918.2:p.Ile926Val NC_000010.11:68419813:T:C p.(Ile926Val) NC_000010.11:68419813:T:C p.(Ile926Val) NC_000010.11:68419813:T:C Identity +NM_018226.6:c.385G>A NP_060696.4:p.Glu129Lys NC_000002.12:240568970:G:A p.(Glu129Lys) NC_000002.12:240568970:G:A p.(Glu129Lys) NC_000002.12:240568970:G:A Identity +NM_001286562.2:c.664G>A NP_001273491.1:p.Glu222Lys NC_000006.12:151468804:G:A p.(Glu222Lys) NC_000006.12:151468804:G:A p.(Glu222Lys) NC_000006.12:151468804:G:A Identity +NM_001205028.3:c.1762A>G NP_001191957.1:p.Thr588Ala NC_000012.12:68302724:T:C p.(Thr588Ala) NC_000012.12:68302724:T:C p.(Thr588Ala) NC_000012.12:68302724:T:C Identity +NM_001142685.2:c.4997C>T NP_001136157.1:p.Ala1666Val NC_000011.10:128970173:G:A p.(Ala1666Val) NC_000011.10:128970173:G:A p.(Ala1666Val) NC_000011.10:128970173:G:A Identity +NM_015490.4:c.2272G>A NP_056305.1:p.Ala758Thr NC_000010.11:100496295:C:T p.(Ala758Thr) NC_000010.11:100496295:C:T p.(Ala758Thr) NC_000010.11:100496295:C:T Identity +NM_001012662.3:c.533G>T NP_001012680.1:p.Gly178Val NC_000011.10:62881249:G:T p.(Gly178Val) NC_000011.10:62881249:G:T p.(Gly178Val) NC_000011.10:62881249:G:T Identity +NM_001308047.2:c.3179C>T NP_001294976.1:p.Thr1060Ile NC_000009.12:76709094:G:A p.(Thr1060Ile) NC_000009.12:76709094:G:A p.(Thr1060Ile) NC_000009.12:76709094:G:A Identity +NM_017617.5:c.2954C>T NP_060087.3:p.Pro985Leu NC_000009.12:136509747:G:A p.(Pro985Leu) NC_000009.12:136509747:G:A p.(Pro985Leu) NC_000009.12:136509747:G:A Identity +NM_018649.3:c.434G>T NP_061119.1:p.Gly145Val NC_000010.11:70091910:G:T p.(Gly145Val) NC_000010.11:70091910:G:T p.(Gly145Val) NC_000010.11:70091910:G:T Identity +NM_001346116.2:c.445C>T NP_001333045.1:p.Arg149Cys NC_000001.11:1309574:C:T p.(Arg149Cys) NC_000001.11:1309574:C:T p.(Arg149Cys) NC_000001.11:1309574:C:T Identity +NM_001759.4:c.532C>T NP_001750.1:p.Arg178Cys NC_000012.12:4278879:C:T p.(Arg178Cys) NC_000012.12:4278879:C:T p.(Arg178Cys) NC_000012.12:4278879:C:T Identity +NM_138771.4:c.206A>T NP_620126.2:p.Asp69Val NC_000007.14:23611520:A:T p.(Asp69Val) NC_000007.14:23611520:A:T p.(Asp69Val) NC_000007.14:23611520:A:T Identity +NM_001145475.3:c.5425A>G NP_001138947.1:p.Thr1809Ala NC_000012.12:50351406:T:C p.(Thr1809Ala) NC_000012.12:50351406:T:C p.(Thr1809Ala) NC_000012.12:50351406:T:C Identity +NM_018012.4:c.2662G>A NP_060482.2:p.Asp888Asn NC_000001.11:245685644:G:A p.(Asp888Asn) NC_000001.11:245685644:G:A p.(Asp888Asn) NC_000001.11:245685644:G:A Identity +NM_018654.2:c.395T>C NP_061124.1:p.Ile132Thr NC_000012.12:12949989:A:G p.(Ile132Thr) NC_000012.12:12949989:A:G p.(Ile132Thr) NC_000012.12:12949989:A:G Identity +NM_001168368.2:c.1414G>T NP_001161840.1:p.Ala472Ser NC_000014.9:69347876:G:T p.(Ala472Ser) NC_000014.9:69347876:G:T p.(Ala472Ser) NC_000014.9:69347876:G:T Identity +NM_032246.6:c.71G>C NP_115622.2:p.Gly24Ala NC_000015.10:82045634:C:G p.(Gly24Ala) NC_000015.10:82045634:C:G p.(Gly24Ala) NC_000015.10:82045634:C:G Identity +NM_001190266.2:c.1295A>G NP_001177195.1:p.Asp432Gly NC_000002.12:233292243:A:G p.(Asp432Gly) NC_000002.12:233292243:A:G p.(Asp432Gly) NC_000002.12:233292243:A:G Identity +NM_000368.5:c.2138C>G NP_000359.1:p.Ala713Gly NC_000009.12:132903720:G:C p.(Ala713Gly) NC_000009.12:132903720:G:C p.(Ala713Gly) NC_000009.12:132903720:G:C Identity +NM_152649.4:c.1079G>C NP_689862.1:p.Ser360Thr NC_000016.10:74675723:C:G p.(Ser360Thr) NC_000016.10:74675723:C:G p.(Ser360Thr) NC_000016.10:74675723:C:G Identity +NM_001135091.2:c.626C>T NP_001128563.1:p.Pro209Leu NC_000011.10:26565313:G:A p.(Pro209Leu) NC_000011.10:26565313:G:A p.(Pro209Leu) NC_000011.10:26565313:G:A Identity +NM_001278506.2:c.748G>A NP_001265435.1:p.Val250Ile NC_000016.10:10761819:G:A p.(Val250Ile) NC_000016.10:10761819:G:A p.(Val250Ile) NC_000016.10:10761819:G:A Identity +NM_001142548.2:c.1424T>C NP_001136020.1:p.Val475Ala NC_000001.11:46273402:T:C p.(Val475Ala) NC_000001.11:46273402:T:C p.(Val475Ala) NC_000001.11:46273402:T:C Identity +NM_001737.5:c.959T>C NP_001728.1:p.Val320Ala NC_000005.10:39311288:A:G p.(Val320Ala) NC_000005.10:39311288:A:G p.(Val320Ala) NC_000005.10:39311288:A:G Identity +NM_001018056.3:c.2029G>C NP_001018066.1:p.Glu677Gln NC_000009.12:2648734:G:C p.(Glu677Gln) NC_000009.12:2648734:G:C p.(Glu677Gln) NC_000009.12:2648734:G:C Identity +NM_001134419.2:c.766G>A NP_001127891.1:p.Val256Ile NC_000001.11:91513250:G:A p.(Val256Ile) NC_000001.11:91513250:G:A p.(Val256Ile) NC_000001.11:91513250:G:A Identity +NM_001391957.1:c.1649C>T NP_001378886.1:p.Ser550Phe NC_000001.11:15328367:C:T p.(Ser550Phe) NC_000001.11:15328367:C:T p.(Ser550Phe) NC_000001.11:15328367:C:T Identity +NM_001098519.2:c.25T>A NP_001091989.1:p.Ser9Thr NC_000012.12:122183168:T:A p.(Ser9Thr) NC_000012.12:122183168:T:A p.(Ser9Thr) NC_000012.12:122183168:T:A Identity +NM_001033053.3:c.1615A>G NP_001028225.1:p.Lys539Glu NC_000017.11:5559080:T:C p.(Lys539Glu) NC_000017.11:5559080:T:C p.(Lys539Glu) NC_000017.11:5559080:T:C Identity +NM_006738.6:c.1684A>C NP_006729.4:p.Thr562Pro NC_000015.10:85579751:A:C p.(Thr562Pro) NC_000015.10:85579751:A:C p.(Thr562Pro) NC_000015.10:85579751:A:C Identity +NM_001129727.3:c.3561C>A NP_001123199.1:p.Asp1187Glu NC_000016.10:67288594:C:A p.(Asp1187Glu) NC_000016.10:67288594:C:A p.(Asp1187Glu) NC_000016.10:67288594:C:A Identity +NM_001080440.1:c.290T>G NP_001073909.1:p.Phe97Cys NC_000003.12:161497096:T:G p.(Phe97Cys) NC_000003.12:161497096:T:G p.(Phe97Cys) NC_000003.12:161497096:T:G Identity +NM_001324281.3:c.694C>G NP_001311210.1:p.Leu232Val NC_000007.14:2939918:G:C p.(Leu232Val) NC_000007.14:2939918:G:C p.(Leu232Val) NC_000007.14:2939918:G:C Identity +NM_001303542.3:c.923A>G NP_001290471.2:p.Lys308Arg NC_000017.11:31525184:A:G p.(Lys308Arg) NC_000017.11:31525184:A:G p.(Lys308Arg) NC_000017.11:31525184:A:G Identity +NM_001669.4:c.142G>A NP_001660.2:p.Ala48Thr NC_000023.11:2925667:C:T p.(Ala48Thr) NC_000023.11:2925667:C:T p.(Ala48Thr) NC_000023.11:2925667:C:T Identity +NM_000956.4:c.347T>G NP_000947.2:p.Met116Arg NC_000014.9:52314894:T:G p.(Met116Arg) NC_000014.9:52314894:T:G p.(Met116Arg) NC_000014.9:52314894:T:G Identity +NM_032582.4:c.3955C>G NP_115971.2:p.Leu1319Val NC_000017.11:60183332:G:C p.(Leu1319Val) NC_000017.11:60183332:G:C p.(Leu1319Val) NC_000017.11:60183332:G:C Identity +NM_001369454.1:c.550G>A NP_001356383.1:p.Glu184Lys NC_000003.12:44451361:C:T p.(Glu184Lys) NC_000003.12:44451361:C:T p.(Glu184Lys) NC_000003.12:44451361:C:T Identity +NM_001145396.2:c.526A>G NP_001138868.1:p.Thr176Ala NC_000019.10:49460847:A:G p.(Thr176Ala) NC_000019.10:49460847:A:G p.(Thr176Ala) NC_000019.10:49460847:A:G Identity +NM_031866.3:c.556C>T NP_114072.1:p.Pro186Ser NC_000010.11:35640873:G:A p.(Pro186Ser) NC_000010.11:35640873:G:A p.(Pro186Ser) NC_000010.11:35640873:G:A Identity +NM_001161357.2:c.2155G>A NP_001154829.1:p.Glu719Lys NC_000019.10:17784163:G:A p.(Glu719Lys) NC_000019.10:17784163:G:A p.(Glu719Lys) NC_000019.10:17784163:G:A Identity +NM_001195220.2:c.1249C>T NP_001182149.1:p.Arg417Cys NC_000007.14:149281950:C:T p.(Arg417Cys) NC_000007.14:149281950:C:T p.(Arg417Cys) NC_000007.14:149281950:C:T Identity +NM_022092.3:c.1438G>T NP_071375.1:p.Gly480Trp NC_000016.10:792549:G:T p.(Gly480Trp) NC_000016.10:792549:G:T p.(Gly480Trp) NC_000016.10:792549:G:T Identity +NM_001324255.2:c.4811C>T NP_001311184.1:p.Pro1604Leu NC_000005.10:72198543:C:T p.(Pro1604Leu) NC_000005.10:72198543:C:T p.(Pro1604Leu) NC_000005.10:72198543:C:T Identity +NM_015353.3:c.58G>T NP_056168.1:p.Gly20Trp NC_000017.11:75047307:G:T p.(Gly20Trp) NC_000017.11:75047307:G:T p.(Gly20Trp) NC_000017.11:75047307:G:T Identity +NM_001368073.2:c.1801A>G NP_001355002.1:p.Lys601Glu NC_000015.10:56095635:T:C p.(Lys601Glu) NC_000015.10:56095635:T:C p.(Lys601Glu) NC_000015.10:56095635:T:C Identity +NM_001012967.3:c.4426G>A NP_001012985.2:p.Gly1476Arg NC_000004.12:168378412:C:T p.(Gly1476Arg) NC_000004.12:168378412:C:T p.(Gly1476Arg) NC_000004.12:168378412:C:T Identity +NM_001270726.1:c.1192A>G NP_001257655.1:p.Thr398Ala NC_000022.11:17727195:A:G p.(Thr398Ala) NC_000022.11:17727195:A:G p.(Thr398Ala) NC_000022.11:17727195:A:G Identity +NM_172069.4:c.1946G>A NP_742066.2:p.Ser649Asn NC_000002.12:43707524:G:A p.(Ser649Asn) NC_000002.12:43707524:G:A p.(Ser649Asn) NC_000002.12:43707524:G:A Identity +NM_001281748.3:c.853C>A NP_001268677.1:p.Leu285Met NC_000011.10:116875254:G:T p.(Leu285Met) NC_000011.10:116875254:G:T p.(Leu285Met) NC_000011.10:116875254:G:T Identity +NM_001004128.3:c.776A>G NP_001004128.1:p.Tyr259Cys NC_000001.11:180183938:A:G p.(Tyr259Cys) NC_000001.11:180183938:A:G p.(Tyr259Cys) NC_000001.11:180183938:A:G Identity +NM_020338.4:c.2179G>A NP_065071.1:p.Gly727Arg NC_000010.11:79304067:G:A p.(Gly727Arg) NC_000010.11:79304067:G:A p.(Gly727Arg) NC_000010.11:79304067:G:A Identity +NM_030759.5:c.112G>A NP_110386.2:p.Ala38Thr NC_000010.11:63146289:G:A p.(Ala38Thr) NC_000010.11:63146289:G:A p.(Ala38Thr) NC_000010.11:63146289:G:A Identity +NM_018357.4:c.212C>T NP_060827.2:p.Ala71Val NC_000015.10:70836493:G:A p.(Ala71Val) NC_000015.10:70836493:G:A p.(Ala71Val) NC_000015.10:70836493:G:A Identity +NM_001301861.2:c.2878G>A NP_001288790.1:p.Glu960Lys NC_000003.12:113284555:G:A p.(Glu960Lys) NC_000003.12:113284555:G:A p.(Glu960Lys) NC_000003.12:113284555:G:A Identity +NM_001286457.2:c.53C>G NP_001273386.2:p.Pro18Arg NC_000016.10:8930375:G:C p.(Pro18Arg) NC_000016.10:8930375:G:C p.(Pro18Arg) NC_000016.10:8930375:G:C Identity +NM_001172129.3:c.1421A>G NP_001165600.1:p.Lys474Arg NC_000020.11:32101421:A:G p.(Lys474Arg) NC_000020.11:32101421:A:G p.(Lys474Arg) NC_000020.11:32101421:A:G Identity +NM_182578.4:c.431T>C NP_872384.2:p.Phe144Ser NC_000001.11:151851085:A:G p.(Phe144Ser) NC_000001.11:151851085:A:G p.(Phe144Ser) NC_000001.11:151851085:A:G Identity +NM_001351273.1:c.2132G>A NP_001338202.1:p.Gly711Asp NC_000019.10:1465435:G:A p.(Gly711Asp) NC_000019.10:1465435:G:A p.(Gly711Asp) NC_000019.10:1465435:G:A Identity +NM_004104.5:c.7213A>G NP_004095.4:p.Ile2405Val NC_000017.11:82079541:T:C p.(Ile2405Val) NC_000017.11:82079541:T:C p.(Ile2405Val) NC_000017.11:82079541:T:C Identity +NM_001308187.2:c.304C>A NP_001295116.1:p.Arg102Ser NC_000004.12:144116867:G:T p.(Arg102Ser) NC_000004.12:144116867:G:T p.(Arg102Ser) NC_000004.12:144116867:G:T Identity +NM_178527.4:c.878C>T NP_848622.2:p.Pro293Leu NC_000001.11:173576684:G:A p.(Pro293Leu) NC_000001.11:173576684:G:A p.(Pro293Leu) NC_000001.11:173576684:G:A Identity +NM_025040.4:c.16G>A NP_079316.2:p.Glu6Lys NC_000019.10:52018493:C:T p.(Glu6Lys) NC_000019.10:52018493:C:T p.(Glu6Lys) NC_000019.10:52018493:C:T Identity +NM_014208.3:c.2582G>A NP_055023.2:p.Ser861Asn NC_000004.12:87615243:G:A p.(Ser861Asn) NC_000004.12:87615243:G:A p.(Ser861Asn) NC_000004.12:87615243:G:A Identity +NM_001164377.1:c.77G>A NP_001157849.1:p.Gly26Glu NC_000011.10:3218736:C:T p.(Gly26Glu) NC_000011.10:3218736:C:T p.(Gly26Glu) NC_000011.10:3218736:C:T Identity +NM_001134232.2:c.109A>G NP_001127704.1:p.Asn37Asp NC_000007.14:12214918:A:G p.(Asn37Asp) NC_000007.14:12214918:A:G p.(Asn37Asp) NC_000007.14:12214918:A:G Identity +NM_175060.3:c.538C>T NP_778230.1:p.Pro180Ser NC_000014.9:38255484:G:A p.(Pro180Ser) NC_000014.9:38255484:G:A p.(Pro180Ser) NC_000014.9:38255484:G:A Identity +NM_000845.3:c.343C>A NP_000836.2:p.Gln115Lys NC_000007.14:127242861:G:T p.(Gln115Lys) NC_000007.14:127242861:G:T p.(Gln115Lys) NC_000007.14:127242861:G:T Identity +NM_001170414.2:c.499G>T NP_001163885.1:p.Asp167Tyr NC_000009.12:69221111:G:T p.(Asp167Tyr) NC_000009.12:69221111:G:T p.(Asp167Tyr) NC_000009.12:69221111:G:T Identity +NM_001256486.2:c.5777A>T NP_001243415.1:p.Asp1926Val NC_000003.12:121694745:T:A p.(Asp1926Val) NC_000003.12:121694745:T:A p.(Asp1926Val) NC_000003.12:121694745:T:A Identity +NM_001007125.3:c.542G>C NP_001007126.1:p.Gly181Ala NC_000020.11:64083565:C:G p.(Gly181Ala) NC_000020.11:64083565:C:G p.(Gly181Ala) NC_000020.11:64083565:C:G Identity +NM_003613.4:c.2470G>A NP_003604.4:p.Val824Ile NC_000015.10:65197815:C:T p.(Val824Ile) NC_000015.10:65197815:C:T p.(Val824Ile) NC_000015.10:65197815:C:T Identity +NM_004441.5:c.544G>A NP_004432.1:p.Ala182Thr NC_000003.12:134951790:G:A p.(Ala182Thr) NC_000003.12:134951790:G:A p.(Ala182Thr) NC_000003.12:134951790:G:A Identity +NM_001207017.1:c.2513A>G NP_001193946.1:p.Gln838Arg NC_000022.11:31098764:A:G p.(Gln838Arg) NC_000022.11:31098764:A:G p.(Gln838Arg) NC_000022.11:31098764:A:G Identity +NM_005392.4:c.16G>A NP_005383.3:p.Val6Met NC_000009.12:93576788:G:A p.(Val6Met) NC_000009.12:93576788:G:A p.(Val6Met) NC_000009.12:93576788:G:A Identity +NM_001105556.3:c.425G>A NP_001099026.1:p.Arg142His NC_000001.11:27879832:G:A p.(Arg142His) NC_000001.11:27879832:G:A p.(Arg142His) NC_000001.11:27879832:G:A Identity +NM_001354638.2:c.49G>T NP_001341567.1:p.Ala17Ser NC_000008.11:9003111:G:T p.(Ala17Ser) NC_000008.11:9003111:G:T p.(Ala17Ser) NC_000008.11:9003111:G:T Identity +NM_001366018.1:c.721G>A NP_001352947.1:p.Val241Ile NC_000019.10:648261:C:T p.(Val241Ile) NC_000019.10:648261:C:T p.(Val241Ile) NC_000019.10:648261:C:T Identity +NM_182985.5:c.258G>C NP_892030.3:p.Gln86His NC_000015.10:44755150:G:C p.(Gln86His) NC_000015.10:44755150:G:C p.(Gln86His) NC_000015.10:44755150:G:C Identity +NM_001375567.1:c.526C>A NP_001362496.1:p.Pro176Thr NC_000009.12:20764899:C:A p.(Pro176Thr) NC_000009.12:20764899:C:A p.(Pro176Thr) NC_000009.12:20764899:C:A Identity +NM_001376227.1:c.1781T>C NP_001363156.1:p.Leu594Pro NC_000017.11:42115816:A:G p.(Leu594Pro) NC_000017.11:42115816:A:G p.(Leu594Pro) NC_000017.11:42115816:A:G Identity +NM_006868.4:c.101A>G NP_006859.2:p.Asn34Ser NC_000018.10:9775338:A:G p.(Asn34Ser) NC_000018.10:9775338:A:G p.(Asn34Ser) NC_000018.10:9775338:A:G Identity +NM_001177660.3:c.992T>G NP_001171131.1:p.Val331Gly NC_000010.11:113582106:T:G p.(Val331Gly) NC_000010.11:113582106:T:G p.(Val331Gly) NC_000010.11:113582106:T:G Identity +NM_014916.4:c.1258G>A NP_055731.2:p.Val420Ile NC_000007.14:98191722:G:A p.(Val420Ile) NC_000007.14:98191722:G:A p.(Val420Ile) NC_000007.14:98191722:G:A Identity +NM_002432.3:c.116T>A NP_002423.1:p.Met39Lys NC_000001.11:158842268:T:A p.(Met39Lys) NC_000001.11:158842268:T:A p.(Met39Lys) NC_000001.11:158842268:T:A Identity +NM_001014809.3:c.263T>G NP_001014809.1:p.Val88Gly NC_000004.12:5892706:A:C p.(Val88Gly) NC_000004.12:5892706:A:C p.(Val88Gly) NC_000004.12:5892706:A:C Identity +NM_001349012.1:c.791A>G NP_001335941.1:p.Asn264Ser NC_000002.12:99078749:T:C p.(Asn264Ser) NC_000002.12:99078749:T:C p.(Asn264Ser) NC_000002.12:99078749:T:C Identity +NM_031962.3:c.212G>A NP_114168.1:p.Cys71Tyr NC_000017.11:41232712:G:A p.(Cys71Tyr) NC_000017.11:41232712:G:A p.(Cys71Tyr) NC_000017.11:41232712:G:A Identity +NM_178499.5:c.1379C>T NP_848594.2:p.Ser460Phe NC_000012.12:119530890:C:T p.(Ser460Phe) NC_000012.12:119530890:C:T p.(Ser460Phe) NC_000012.12:119530890:C:T Identity +NM_015672.2:c.1279C>T NP_056487.1:p.Leu427Phe NC_000022.11:18610155:G:A p.(Leu427Phe) NC_000022.11:18610155:G:A p.(Leu427Phe) NC_000022.11:18610155:G:A Identity +NM_001326559.2:c.3284C>T NP_001313488.2:p.Ala1095Val NC_000002.12:219639660:C:T p.(Ala1095Val) NC_000002.12:219639660:C:T p.(Ala1095Val) NC_000002.12:219639660:C:T Identity +NM_001370264.1:c.1853C>T NP_001357193.1:p.Thr618Ile NC_000003.12:38006605:C:T p.(Thr618Ile) NC_000003.12:38006605:C:T p.(Thr618Ile) NC_000003.12:38006605:C:T Identity +NM_004312.3:c.417T>G NP_004303.2:p.Ile139Met NC_000023.11:70276679:T:G p.(Ile139Met) NC_000023.11:70276679:T:G p.(Ile139Met) NC_000023.11:70276679:T:G Identity +NM_001040185.3:c.103G>C NP_001035275.1:p.Asp35His NC_000019.10:53402151:G:C p.(Asp35His) NC_000019.10:53402151:G:C p.(Asp35His) NC_000019.10:53402151:G:C Identity +NM_001033602.4:c.3582C>G NP_001028774.3:p.Asp1194Glu NC_000013.11:29497239:C:G p.(Asp1194Glu) NC_000013.11:29497239:C:G p.(Asp1194Glu) NC_000013.11:29497239:C:G Identity +NM_001346048.2:c.338A>G NP_001332977.1:p.Asn113Ser NC_000005.10:181260475:T:C p.(Asn113Ser) NC_000005.10:181260475:T:C p.(Asn113Ser) NC_000005.10:181260475:T:C Identity +NM_001291088.2:c.6503G>A NP_001278017.1:p.Arg2168Gln NC_000019.10:37887167:C:T p.(Arg2168Gln) NC_000019.10:37887167:C:T p.(Arg2168Gln) NC_000019.10:37887167:C:T Identity +NM_001278921.2:c.161T>C NP_001265850.1:p.Leu54Pro NC_000007.14:99836541:T:C p.(Leu54Pro) NC_000007.14:99836541:T:C p.(Leu54Pro) NC_000007.14:99836541:T:C Identity +NM_000964.4:c.1288G>C NP_000955.1:p.Gly430Arg NC_000017.11:40356124:G:C p.(Gly430Arg) NC_000017.11:40356124:G:C p.(Gly430Arg) NC_000017.11:40356124:G:C Identity +NM_018983.4:c.296A>G NP_061856.1:p.Asn99Ser NC_000004.12:109818016:A:G p.(Asn99Ser) NC_000004.12:109818016:A:G p.(Asn99Ser) NC_000004.12:109818016:A:G Identity +NM_001301012.2:c.982G>C NP_001287941.1:p.Val328Leu NC_000006.12:133483067:G:C p.(Val328Leu) NC_000006.12:133483067:G:C p.(Val328Leu) NC_000006.12:133483067:G:C Identity +NM_001039886.4:c.2551G>A NP_001034975.2:p.Ala851Thr NC_000019.10:52555466:G:A p.(Ala851Thr) NC_000019.10:52555466:G:A p.(Ala851Thr) NC_000019.10:52555466:G:A Identity +NM_032777.10:c.2758G>A NP_116166.9:p.Val920Met NC_000008.11:37841095:G:A p.(Val920Met) NC_000008.11:37841095:G:A p.(Val920Met) NC_000008.11:37841095:G:A Identity +NM_018214.5:c.866A>G NP_060684.4:p.Glu289Gly NC_000006.12:53902706:A:G p.(Glu289Gly) NC_000006.12:53902706:A:G p.(Glu289Gly) NC_000006.12:53902706:A:G Identity +NM_080859.1:c.136A>G NP_543135.1:p.Ile46Val NC_000009.12:122800257:A:G p.(Ile46Val) NC_000009.12:122800257:A:G p.(Ile46Val) NC_000009.12:122800257:A:G Identity +NM_001080391.2:c.1388A>C NP_001073860.1:p.Glu463Ala NC_000002.12:230470056:A:C p.(Glu463Ala) NC_000002.12:230470056:A:C p.(Glu463Ala) NC_000002.12:230470056:A:C Identity +NM_001167595.2:c.518G>T NP_001161067.1:p.Arg173Leu NC_000005.10:34004607:C:A p.(Arg173Leu) NC_000005.10:34004607:C:A p.(Arg173Leu) NC_000005.10:34004607:C:A Identity +NM_001243108.2:c.2429G>C NP_001230037.1:p.Ser810Thr NC_000017.11:4819548:G:C p.(Ser810Thr) NC_000017.11:4819548:G:C p.(Ser810Thr) NC_000017.11:4819548:G:C Identity +NM_001103170.3:c.583G>C NP_001096640.2:p.Gly195Arg NC_000001.11:12725354:G:C p.(Gly195Arg) NC_000001.11:12725354:G:C p.(Gly195Arg) NC_000001.11:12725354:G:C Identity +NM_001308116.2:c.1121C>T NP_001295045.1:p.Pro374Leu NC_000003.12:170129314:G:A p.(Pro374Leu) NC_000003.12:170129314:G:A p.(Pro374Leu) NC_000003.12:170129314:G:A Identity +NM_001363683.2:c.143T>C NP_001350612.1:p.Met48Thr NC_000007.14:47978567:A:G p.(Met48Thr) NC_000007.14:47978567:A:G p.(Met48Thr) NC_000007.14:47978567:A:G Identity +NM_001369789.1:c.247G>C NP_001356718.1:p.Glu83Gln NC_000019.10:1360167:G:C p.(Glu83Gln) NC_000019.10:1360167:G:C p.(Glu83Gln) NC_000019.10:1360167:G:C Identity +NM_001303012.2:c.95G>A NP_001289941.1:p.Arg32His NC_000001.11:2478526:G:A p.(Arg32His) NC_000001.11:2478526:G:A p.(Arg32His) NC_000001.11:2478526:G:A Identity +NM_001353345.2:c.5847C>G NP_001340274.1:p.Asp1949Glu NC_000012.12:121830184:C:G p.(Asp1949Glu) NC_000012.12:121830184:C:G p.(Asp1949Glu) NC_000012.12:121830184:C:G Identity +NM_001349178.2:c.971C>A NP_001336107.1:p.Pro324Gln NC_000003.12:38375225:C:A p.(Pro324Gln) NC_000003.12:38375225:C:A p.(Pro324Gln) NC_000003.12:38375225:C:A Identity +NM_001199867.2:c.1253G>A NP_001186796.1:p.Arg418His NC_000019.10:45280710:G:A p.(Arg418His) NC_000019.10:45280710:G:A p.(Arg418His) NC_000019.10:45280710:G:A Identity +NM_001166108.2:c.2261T>A NP_001159580.1:p.Val754Asp NC_000004.12:168898502:T:A p.(Val754Asp) NC_000004.12:168898502:T:A p.(Val754Asp) NC_000004.12:168898502:T:A Identity +NM_001004758.1:c.892C>A NP_001004758.1:p.Leu298Ile NC_000011.10:4848316:G:T p.(Leu298Ile) NC_000011.10:4848316:G:T p.(Leu298Ile) NC_000011.10:4848316:G:T Identity +NM_001130003.2:c.71G>A NP_001123475.1:p.Arg24Gln NC_000003.12:63278728:G:A p.(Arg24Gln) NC_000003.12:63278728:G:A p.(Arg24Gln) NC_000003.12:63278728:G:A Identity +NM_001355530.2:c.424G>C NP_001342459.1:p.Ala142Pro NC_000007.14:105565574:C:G p.(Ala142Pro) NC_000007.14:105565574:C:G p.(Ala142Pro) NC_000007.14:105565574:C:G Identity +NM_001370528.1:c.2222G>T NP_001357457.1:p.Arg741Leu NC_000003.12:64099363:C:A p.(Arg741Leu) NC_000003.12:64099363:C:A p.(Arg741Leu) NC_000003.12:64099363:C:A Identity +NM_020338.4:c.379C>T NP_065071.1:p.Pro127Ser NC_000010.11:79277278:C:T p.(Pro127Ser) NC_000010.11:79277278:C:T p.(Pro127Ser) NC_000010.11:79277278:C:T Identity +NM_018011.4:c.99C>G NP_060481.3:p.Asp33Glu NC_000013.11:106567820:G:C p.(Asp33Glu) NC_000013.11:106567820:G:C p.(Asp33Glu) NC_000013.11:106567820:G:C Identity +NM_001031714.4:c.403_404delinsAA NP_001026884.3:p.Ser135Asn NC_000014.9:104703115:TC:AA p.(Ser135Asn) NC_000014.9:104703115:TC:AA p.(Ser135Asn) NC_000014.9:104703115:TC:AA Identity +NM_001080399.3:c.1210G>T NP_001073868.2:p.Ala404Ser NC_000008.11:132024704:C:A p.(Ala404Ser) NC_000008.11:132024704:C:A p.(Ala404Ser) NC_000008.11:132024704:C:A Identity +NM_006020.3:c.205G>T NP_006011.2:p.Val69Leu NC_000014.9:77704455:C:A p.(Val69Leu) NC_000014.9:77704455:C:A p.(Val69Leu) NC_000014.9:77704455:C:A Identity +NM_148894.3:c.1844C>T NP_683692.2:p.Ser615Leu NC_000004.12:13605055:G:A p.(Ser615Leu) NC_000004.12:13605055:G:A p.(Ser615Leu) NC_000004.12:13605055:G:A Identity +NM_015258.2:c.1895T>G NP_056073.1:p.Leu632Trp NC_000009.12:113182784:A:C p.(Leu632Trp) NC_000009.12:113182784:A:C p.(Leu632Trp) NC_000009.12:113182784:A:C Identity +NM_175053.4:c.94G>T NP_778223.2:p.Ala32Ser NC_000012.12:52573683:C:A p.(Ala32Ser) NC_000012.12:52573683:C:A p.(Ala32Ser) NC_000012.12:52573683:C:A Identity +NM_017590.6:c.1483A>C NP_060060.3:p.Lys495Gln NC_000022.11:41346025:A:C p.(Lys495Gln) NC_000022.11:41346025:A:C p.(Lys495Gln) NC_000022.11:41346025:A:C Identity +NM_014727.3:c.2828G>A NP_055542.1:p.Gly943Glu NC_000019.10:35723099:G:A p.(Gly943Glu) NC_000019.10:35723099:G:A p.(Gly943Glu) NC_000019.10:35723099:G:A Identity +NM_001303538.2:c.631C>T NP_001290467.1:p.Arg211Trp NC_000019.10:48342768:G:A p.(Arg211Trp) NC_000019.10:48342768:G:A p.(Arg211Trp) NC_000019.10:48342768:G:A Identity +NM_025010.5:c.1123G>A NP_079286.2:p.Ala375Thr NC_000003.12:47340572:G:A p.(Ala375Thr) NC_000003.12:47340572:G:A p.(Ala375Thr) NC_000003.12:47340572:G:A Identity +NM_001225.4:c.475A>C NP_001216.1:p.Ile159Leu NC_000011.10:104950995:T:G p.(Ile159Leu) NC_000011.10:104950995:T:G p.(Ile159Leu) NC_000011.10:104950995:T:G Identity +NM_033036.3:c.835A>G NP_149025.1:p.Ile279Val NC_000011.10:66042967:T:C p.(Ile279Val) NC_000011.10:66042967:T:C p.(Ile279Val) NC_000011.10:66042967:T:C Identity +NM_001320923.2:c.2309T>C NP_001307852.1:p.Leu770Pro NC_000001.11:64844157:A:G p.(Leu770Pro) NC_000001.11:64844157:A:G p.(Leu770Pro) NC_000001.11:64844157:A:G Identity +NM_001165038.2:c.527C>G NP_001158510.1:p.Thr176Arg NC_000008.11:21705993:G:C p.(Thr176Arg) NC_000008.11:21705993:G:C p.(Thr176Arg) NC_000008.11:21705993:G:C Identity +NM_001145860.2:c.197T>C NP_001139332.1:p.Leu66Pro NC_000008.11:98127648:T:C p.(Leu66Pro) NC_000008.11:98127648:T:C p.(Leu66Pro) NC_000008.11:98127648:T:C Identity +NM_000390.4:c.1184G>A NP_000381.1:p.Gly395Asp NC_000023.11:85911320:C:T p.(Gly395Asp) NC_000023.11:85911320:C:T p.(Gly395Asp) NC_000023.11:85911320:C:T Identity +NM_001370.2:c.6455G>A NP_001361.1:p.Gly2152Glu NC_000002.12:84672326:G:A p.(Gly2152Glu) NC_000002.12:84672326:G:A p.(Gly2152Glu) NC_000002.12:84672326:G:A Identity +NM_001197287.2:c.373G>A NP_001184216.2:p.Asp125Asn NC_000014.9:19713510:C:T p.(Asp125Asn) NC_000014.9:19713510:C:T p.(Asp125Asn) NC_000014.9:19713510:C:T Identity +NM_001005284.2:c.811G>A NP_001005284.2:p.Asp271Asn NC_000011.10:56742955:C:T p.(Asp271Asn) NC_000011.10:56742955:C:T p.(Asp271Asn) NC_000011.10:56742955:C:T Identity +NM_001005275.2:c.805A>G NP_001005275.2:p.Met269Val NC_000011.10:55368777:A:G p.(Met269Val) NC_000011.10:55368777:A:G p.(Met269Val) NC_000011.10:55368777:A:G Identity +NM_001004317.4:c.586G>A NP_001004317.1:p.Gly196Arg NC_000006.12:105078615:G:A p.(Gly196Arg) NC_000006.12:105078615:G:A p.(Gly196Arg) NC_000006.12:105078615:G:A Identity +NM_001897.5:c.3674C>T NP_001888.2:p.Thr1225Ile NC_000015.10:75687390:G:A p.(Thr1225Ile) NC_000015.10:75687390:G:A p.(Thr1225Ile) NC_000015.10:75687390:G:A Identity +NM_001350929.2:c.6004G>C NP_001337858.1:p.Asp2002His NC_000014.9:104949146:C:G p.(Asp2002His) NC_000014.9:104949146:C:G p.(Asp2002His) NC_000014.9:104949146:C:G Identity +NM_002686.4:c.619C>T NP_002677.1:p.Pro207Ser NC_000017.11:39670158:C:T p.(Pro207Ser) NC_000017.11:39670158:C:T p.(Pro207Ser) NC_000017.11:39670158:C:T Identity +NM_001025107.3:c.2312C>T NP_001020278.1:p.Thr771Ile NC_000001.11:154586185:G:A p.(Thr771Ile) NC_000001.11:154586185:G:A p.(Thr771Ile) NC_000001.11:154586185:G:A Identity +NM_001012759.3:c.1176G>T NP_001012777.1:p.Met392Ile NC_000016.10:88714460:G:T p.(Met392Ile) NC_000016.10:88714460:G:T p.(Met392Ile) NC_000016.10:88714460:G:T Identity +NM_001411057.1:c.52C>T NP_001397986.1:p.Pro18Ser NC_000017.11:18039515:C:T p.(Pro18Ser) NC_000017.11:18039515:C:T p.(Pro18Ser) NC_000017.11:18039515:C:T Identity +NM_001039670.3:c.533C>T NP_001034759.1:p.Ser178Phe NC_000012.12:6555496:G:A p.(Ser178Phe) NC_000012.12:6555496:G:A p.(Ser178Phe) NC_000012.12:6555496:G:A Identity +NM_001199199.3:c.377T>C NP_001186128.1:p.Ile126Thr NC_000001.11:33021414:A:G p.(Ile126Thr) NC_000001.11:33021414:A:G p.(Ile126Thr) NC_000001.11:33021414:A:G Identity +NM_001040108.2:c.146C>T NP_001035197.1:p.Thr49Ile NC_000014.9:75049509:G:A p.(Thr49Ile) NC_000014.9:75049509:G:A p.(Thr49Ile) NC_000014.9:75049509:G:A Identity +NM_006662.3:c.8333T>C NP_006653.2:p.Val2778Ala NC_000016.10:30738372:T:C p.(Val2778Ala) NC_000016.10:30738372:T:C p.(Val2778Ala) NC_000016.10:30738372:T:C Identity +NM_005149.3:c.1030G>A NP_005140.1:p.Gly344Arg NC_000001.11:168308854:G:A p.(Gly344Arg) NC_000001.11:168308854:G:A p.(Gly344Arg) NC_000001.11:168308854:G:A Identity +NM_152445.3:c.1436G>A NP_689658.3:p.Ser479Asn NC_000014.9:73938076:C:T p.(Ser479Asn) NC_000014.9:73938076:C:T p.(Ser479Asn) NC_000014.9:73938076:C:T Identity +NM_015202.5:c.4808G>C NP_056017.4:p.Arg1603Pro NC_000016.10:27778579:G:C p.(Arg1603Pro) NC_000016.10:27778579:G:C p.(Arg1603Pro) NC_000016.10:27778579:G:C Identity +NM_003737.4:c.3049A>T NP_003728.1:p.Thr1017Ser NC_000011.10:6632462:T:A p.(Thr1017Ser) NC_000011.10:6632462:T:A p.(Thr1017Ser) NC_000011.10:6632462:T:A Identity +NM_001105570.2:c.783C>G NP_001099040.1:p.Phe261Leu NC_000019.10:32709252:C:G p.(Phe261Leu) NC_000019.10:32709252:C:G p.(Phe261Leu) NC_000019.10:32709252:C:G Identity +NM_016548.4:c.104C>T NP_057632.2:p.Ala35Val NC_000009.12:86079216:G:A p.(Ala35Val) NC_000009.12:86079216:G:A p.(Ala35Val) NC_000009.12:86079216:G:A Identity +NM_001318810.2:c.1775G>A NP_001305739.1:p.Arg592Lys NC_000003.12:165189055:C:T p.(Arg592Lys) NC_000003.12:165189055:C:T p.(Arg592Lys) NC_000003.12:165189055:C:T Identity +NM_015325.3:c.413A>G NP_056140.1:p.Lys138Arg NC_000005.10:5444314:A:G p.(Lys138Arg) NC_000005.10:5444314:A:G p.(Lys138Arg) NC_000005.10:5444314:A:G Identity +NM_001375567.1:c.2597A>G NP_001362496.1:p.Lys866Arg NC_000009.12:20885201:A:G p.(Lys866Arg) NC_000009.12:20885201:A:G p.(Lys866Arg) NC_000009.12:20885201:A:G Identity +NM_001354726.2:c.1831T>C NP_001341655.1:p.Ser611Pro NC_000003.12:14148571:A:G p.(Ser611Pro) NC_000003.12:14148571:A:G p.(Ser611Pro) NC_000003.12:14148571:A:G Identity +NM_003737.4:c.346C>T NP_003728.1:p.Arg116Cys NC_000011.10:6641267:G:A p.(Arg116Cys) NC_000011.10:6641267:G:A p.(Arg116Cys) NC_000011.10:6641267:G:A Identity +NM_001127266.2:c.1001T>C NP_001120738.1:p.Leu334Pro NC_000004.12:1717267:A:G p.(Leu334Pro) NC_000004.12:1717267:A:G p.(Leu334Pro) NC_000004.12:1717267:A:G Identity +NM_000299.4:c.935G>A NP_000290.2:p.Arg312His NC_000001.11:201317659:G:A p.(Arg312His) NC_000001.11:201317659:G:A p.(Arg312His) NC_000001.11:201317659:G:A Identity +NM_006771.4:c.608T>C NP_006762.3:p.Val203Ala NC_000017.11:41439326:A:G p.(Val203Ala) NC_000017.11:41439326:A:G p.(Val203Ala) NC_000017.11:41439326:A:G Identity +NM_019606.6:c.1242G>C NP_062552.2:p.Gln414His NC_000007.14:100431259:G:C p.(Gln414His) NC_000007.14:100431259:G:C p.(Gln414His) NC_000007.14:100431259:G:C Identity +NM_001621.5:c.428A>G NP_001612.1:p.Gln143Arg NC_000007.14:17327825:A:G p.(Gln143Arg) NC_000007.14:17327825:A:G p.(Gln143Arg) NC_000007.14:17327825:A:G Identity +NM_177400.3:c.460A>G NP_796374.2:p.Thr154Ala NC_000010.11:132785398:T:C p.(Thr154Ala) NC_000010.11:132785398:T:C p.(Thr154Ala) NC_000010.11:132785398:T:C Identity +NM_173050.5:c.1439C>G NP_766638.2:p.Pro480Arg NC_000022.11:43221282:G:C p.(Pro480Arg) NC_000022.11:43221282:G:C p.(Pro480Arg) NC_000022.11:43221282:G:C Identity +NM_001367600.2:c.680A>G NP_001354529.1:p.Lys227Arg NC_000007.14:22156856:T:C p.(Lys227Arg) NC_000007.14:22156856:T:C p.(Lys227Arg) NC_000007.14:22156856:T:C Identity +NM_001945.3:c.182T>C NP_001936.1:p.Val61Ala NC_000005.10:140345948:A:G p.(Val61Ala) NC_000005.10:140345948:A:G p.(Val61Ala) NC_000005.10:140345948:A:G Identity +NM_004210.5:c.1535C>G NP_004201.3:p.Pro512Arg NC_000010.11:103590181:C:G p.(Pro512Arg) NC_000010.11:103590181:C:G p.(Pro512Arg) NC_000010.11:103590181:C:G Identity +NM_001362843.2:c.2485C>T NP_001349772.1:p.Pro829Ser NC_000022.11:41149943:C:T p.(Pro829Ser) NC_000022.11:41149943:C:T p.(Pro829Ser) NC_000022.11:41149943:C:T Identity +NM_199420.4:c.6600G>C NP_955452.3:p.Trp2200Cys NC_000003.12:121472107:C:G p.(Trp2200Cys) NC_000003.12:121472107:C:G p.(Trp2200Cys) NC_000003.12:121472107:C:G Identity +NM_199420.4:c.7485C>G NP_955452.3:p.Phe2495Leu NC_000003.12:121436179:G:C p.(Phe2495Leu) NC_000003.12:121436179:G:C p.(Phe2495Leu) NC_000003.12:121436179:G:C Identity +NM_001172630.2:c.977G>A NP_001166101.1:p.Arg326His NC_000019.10:35782832:G:A p.(Arg326His) NC_000019.10:35782832:G:A p.(Arg326His) NC_000019.10:35782832:G:A Identity +NM_014727.3:c.532G>A NP_055542.1:p.Ala178Thr NC_000019.10:35719878:G:A p.(Ala178Thr) NC_000019.10:35719878:G:A p.(Ala178Thr) NC_000019.10:35719878:G:A Identity +NM_001365951.3:c.5179C>T NP_001352880.1:p.Arg1727Trp NC_000001.11:10374935:C:T p.(Arg1727Trp) NC_000001.11:10374935:C:T p.(Arg1727Trp) NC_000001.11:10374935:C:T Identity +NM_199420.4:c.4876A>T NP_955452.3:p.Asn1626Tyr NC_000003.12:121488054:T:A p.(Asn1626Tyr) NC_000003.12:121488054:T:A p.(Asn1626Tyr) NC_000003.12:121488054:T:A Identity +NM_199420.4:c.3896C>A NP_955452.3:p.Thr1299Lys NC_000003.12:121489034:G:T p.(Thr1299Lys) NC_000003.12:121489034:G:T p.(Thr1299Lys) NC_000003.12:121489034:G:T Identity +NM_020778.5:c.2770C>G NP_065829.4:p.Pro924Ala NC_000015.10:84857507:C:G p.(Pro924Ala) NC_000015.10:84857507:C:G p.(Pro924Ala) NC_000015.10:84857507:C:G Identity +NM_001378125.1:c.3236A>G NP_001365054.1:p.Lys1079Arg NC_000002.12:32433714:A:G p.(Lys1079Arg) NC_000002.12:32433714:A:G p.(Lys1079Arg) NC_000002.12:32433714:A:G Identity +NM_024642.5:c.1550T>C NP_078918.3:p.Ile517Thr NC_000009.12:98846067:T:C p.(Ile517Thr) NC_000009.12:98846067:T:C p.(Ile517Thr) NC_000009.12:98846067:T:C Identity +NM_000535.7:c.2426C>G NP_000526.2:p.Ser809Cys NC_000007.14:5977606:G:C p.(Ser809Cys) NC_000007.14:5977606:G:C p.(Ser809Cys) NC_000007.14:5977606:G:C Identity +NM_002354.3:c.671C>T NP_002345.2:p.Ser224Phe NC_000002.12:47379781:C:T p.(Ser224Phe) NC_000002.12:47379781:C:T p.(Ser224Phe) NC_000002.12:47379781:C:T Identity +NM_001081640.2:c.2809A>G NP_001075109.1:p.Met937Val NC_000008.11:47912534:T:C p.(Met937Val) NC_000008.11:47912534:T:C p.(Met937Val) NC_000008.11:47912534:T:C Identity +NM_001211.6:c.1699A>G NP_001202.5:p.Ile567Val NC_000015.10:40202658:A:G p.(Ile567Val) NC_000015.10:40202658:A:G p.(Ile567Val) NC_000015.10:40202658:A:G Identity +NM_002439.5:c.1327G>T NP_002430.3:p.Ala443Ser NC_000005.10:80679079:G:T p.(Ala443Ser) NC_000005.10:80679079:G:T p.(Ala443Ser) NC_000005.10:80679079:G:T Identity +NM_018420.3:c.49C>G NP_060890.2:p.Gln17Glu NC_000001.11:115976675:C:G p.(Gln17Glu) NC_000001.11:115976675:C:G p.(Gln17Glu) NC_000001.11:115976675:C:G Identity +NM_001130727.3:c.109C>A NP_001124199.1:p.Gln37Lys NC_000004.12:20704715:C:A p.(Gln37Lys) NC_000004.12:20704715:C:A p.(Gln37Lys) NC_000004.12:20704715:C:A Identity +NM_001385683.1:c.1574C>T NP_001372612.1:p.Pro525Leu NC_000003.12:45759944:G:A p.(Pro525Leu) NC_000003.12:45759944:G:A p.(Pro525Leu) NC_000003.12:45759944:G:A Identity +NM_013375.4:c.124C>T NP_037507.1:p.Arg42Trp NC_000006.12:26597105:C:T p.(Arg42Trp) NC_000006.12:26597105:C:T p.(Arg42Trp) NC_000006.12:26597105:C:T Identity +NM_007361.4:c.185C>A NP_031387.3:p.Ala62Glu NC_000014.9:52068809:G:T p.(Ala62Glu) NC_000014.9:52068809:G:T p.(Ala62Glu) NC_000014.9:52068809:G:T Identity +NM_000400.4:c.1117A>G NP_000391.1:p.Arg373Gly NC_000019.10:45363743:T:C p.(Arg373Gly) NC_000019.10:45363743:T:C p.(Arg373Gly) NC_000019.10:45363743:T:C Identity +NM_001321307.1:c.2858T>C NP_001308236.1:p.Val953Ala NC_000011.10:108169970:A:G p.(Val953Ala) NC_000011.10:108169970:A:G p.(Val953Ala) NC_000011.10:108169970:A:G Identity +NM_000179.3:c.4054_4055insTTGCTGTCCA NP_000170.1:p.Lys1352fs NC_000002.12:47806830:A:ATTGCTGTCCA p.(Lys1352IlefsTer10) NC_000002.12:47806830:A:TTGCTGTCCA p.(Lys1352IlefsTer10) NC_000002.12:47806831:AA:TTGCTGTCCA Analogous +NM_001004705.2:c.301A>G NP_001004705.1:p.Met101Val NC_000011.10:59477729:A:G p.(Met101Val) NC_000011.10:59477729:A:G p.(Met101Val) NC_000011.10:59477729:A:G Identity +NM_001291088.2:c.6389C>T NP_001278017.1:p.Thr2130Ile NC_000019.10:37887281:G:A p.(Thr2130Ile) NC_000019.10:37887281:G:A p.(Thr2130Ile) NC_000019.10:37887281:G:A Identity +NM_018046.5:c.1309G>C NP_060516.2:p.Gly437Arg NC_000005.10:77048267:G:C p.(Gly437Arg) NC_000005.10:77048267:G:C p.(Gly437Arg) NC_000005.10:77048267:G:C Identity +NM_000909.6:c.236T>C NP_000900.1:p.Ile79Thr NC_000004.12:163326318:A:G p.(Ile79Thr) NC_000004.12:163326318:A:G p.(Ile79Thr) NC_000004.12:163326318:A:G Identity +NM_001410877.1:c.3074G>T NP_001397806.1:p.Arg1025Leu NC_000007.14:47304921:C:A p.(Arg1025Leu) NC_000007.14:47304921:C:A p.(Arg1025Leu) NC_000007.14:47304921:C:A Identity +NM_001142548.2:c.26A>G NP_001136020.1:p.Gln9Arg NC_000001.11:46248533:A:G p.(Gln9Arg) NC_000001.11:46248533:A:G p.(Gln9Arg) NC_000001.11:46248533:A:G Identity +NM_001142548.2:c.1396A>G NP_001136020.1:p.Lys466Glu NC_000001.11:46273374:A:G p.(Lys466Glu) NC_000001.11:46273374:A:G p.(Lys466Glu) NC_000001.11:46273374:A:G Identity +NM_001142548.2:c.118G>A NP_001136020.1:p.Glu40Lys NC_000001.11:46250026:G:A p.(Glu40Lys) NC_000001.11:46250026:G:A p.(Glu40Lys) NC_000001.11:46250026:G:A Identity +NM_001040113.2:c.5123G>C NP_001035202.1:p.Arg1708Thr NC_000016.10:15719288:C:G p.(Arg1708Thr) NC_000016.10:15719288:C:G p.(Arg1708Thr) NC_000016.10:15719288:C:G Identity +NM_001407361.1:c.347G>C NP_001394290.1:p.Arg116Thr NC_000001.11:17028675:C:G p.(Arg116Thr) NC_000001.11:17028675:C:G p.(Arg116Thr) NC_000001.11:17028675:C:G Identity +NM_000368.5:c.3191A>T NP_000359.1:p.Glu1064Val NC_000009.12:132896538:T:A p.(Glu1064Val) NC_000009.12:132896538:T:A p.(Glu1064Val) NC_000009.12:132896538:T:A Identity +NM_000257.4:c.3709C>G NP_000248.2:p.Gln1237Glu NC_000014.9:23419861:G:C p.(Gln1237Glu) NC_000014.9:23419861:G:C p.(Gln1237Glu) NC_000014.9:23419861:G:C Identity +NM_005911.6:c.754A>T NP_005902.1:p.Ile252Phe NC_000002.12:85542358:A:T p.(Ile252Phe) NC_000002.12:85542358:A:T p.(Ile252Phe) NC_000002.12:85542358:A:T Identity +NM_001282962.2:c.649A>G NP_001269891.1:p.Met217Val NC_000002.12:233841968:T:C p.(Met217Val) NC_000002.12:233841968:T:C p.(Met217Val) NC_000002.12:233841968:T:C Identity +NM_001326358.2:c.2905G>A NP_001313287.1:p.Gly969Arg NC_000016.10:77289392:C:T p.(Gly969Arg) NC_000016.10:77289392:C:T p.(Gly969Arg) NC_000016.10:77289392:C:T Identity +NM_001128427.3:c.635T>C NP_001121899.1:p.Leu212Pro NC_000004.12:161759499:A:G p.(Leu212Pro) NC_000004.12:161759499:A:G p.(Leu212Pro) NC_000004.12:161759499:A:G Identity +NM_153366.4:c.6214G>A NP_699197.3:p.Gly2072Ser NC_000009.12:110411496:C:T p.(Gly2072Ser) NC_000009.12:110411496:C:T p.(Gly2072Ser) NC_000009.12:110411496:C:T Identity +NM_002769.5:c.560G>A NP_002760.1:p.Gly187Asp NC_000007.14:142752535:G:A p.(Gly187Asp) NC_000007.14:142752535:G:A p.(Gly187Asp) NC_000007.14:142752535:G:A Identity +NM_018975.4:c.502G>C NP_061848.2:p.Glu168Gln NC_000016.10:75648383:G:C p.(Glu168Gln) NC_000016.10:75648383:G:C p.(Glu168Gln) NC_000016.10:75648383:G:C Identity +NM_001040108.2:c.892T>C NP_001035197.1:p.Ser298Pro NC_000014.9:75048763:A:G p.(Ser298Pro) NC_000014.9:75048763:A:G p.(Ser298Pro) NC_000014.9:75048763:A:G Identity +NM_001868.4:c.722C>G NP_001859.1:p.Ser241Cys NC_000007.14:130384560:C:G p.(Ser241Cys) NC_000007.14:130384560:C:G p.(Ser241Cys) NC_000007.14:130384560:C:G Identity +NM_001346599.2:c.419A>T NP_001333528.1:p.Lys140Ile NC_000007.14:105547046:A:T p.(Lys140Ile) NC_000007.14:105547046:A:T p.(Lys140Ile) NC_000007.14:105547046:A:T Identity +NM_001166108.2:c.440C>A NP_001159580.1:p.Thr147Asn NC_000004.12:168511943:C:A p.(Thr147Asn) NC_000004.12:168511943:C:A p.(Thr147Asn) NC_000004.12:168511943:C:A Identity +NM_001166108.2:c.1000G>A NP_001159580.1:p.Ala334Thr NC_000004.12:168668280:G:A p.(Ala334Thr) NC_000004.12:168668280:G:A p.(Ala334Thr) NC_000004.12:168668280:G:A Identity +NM_001040108.2:c.3683A>G NP_001035197.1:p.His1228Arg NC_000014.9:75033450:T:C p.(His1228Arg) NC_000014.9:75033450:T:C p.(His1228Arg) NC_000014.9:75033450:T:C Identity +NM_001367624.2:c.10649G>A NP_001354553.1:p.Cys3550Tyr NC_000016.10:88438118:G:A p.(Cys3550Tyr) NC_000016.10:88438118:G:A p.(Cys3550Tyr) NC_000016.10:88438118:G:A Identity +NM_001098623.2:c.7292G>T NP_001092093.2:p.Gly2431Val NC_000001.11:228279339:G:T p.(Gly2431Val) NC_000001.11:228279339:G:T p.(Gly2431Val) NC_000001.11:228279339:G:T Identity +NM_001098623.2:c.9251G>A NP_001092093.2:p.Arg3084Gln NC_000001.11:228286323:G:A p.(Arg3084Gln) NC_000001.11:228286323:G:A p.(Arg3084Gln) NC_000001.11:228286323:G:A Identity +NM_001365276.2:c.9320C>T NP_001352205.1:p.Pro3107Leu NC_000006.12:32050116:G:A p.(Pro3107Leu) NC_000006.12:32050116:G:A p.(Pro3107Leu) NC_000006.12:32050116:G:A Identity +NM_199420.4:c.1618G>C NP_955452.3:p.Val540Leu NC_000003.12:121510236:C:G p.(Val540Leu) NC_000003.12:121510236:C:G p.(Val540Leu) NC_000003.12:121510236:C:G Identity +NM_052947.4:c.88G>A NP_443179.3:p.Val30Met NC_000018.10:58611709:C:T p.(Val30Met) NC_000018.10:58611709:C:T p.(Val30Met) NC_000018.10:58611709:C:T Identity +NM_001166108.2:c.449C>T NP_001159580.1:p.Thr150Ile NC_000004.12:168511952:C:T p.(Thr150Ile) NC_000004.12:168511952:C:T p.(Thr150Ile) NC_000004.12:168511952:C:T Identity +NM_199420.4:c.632G>A NP_955452.3:p.Gly211Glu NC_000003.12:121537207:C:T p.(Gly211Glu) NC_000003.12:121537207:C:T p.(Gly211Glu) NC_000003.12:121537207:C:T Identity +NM_020778.5:c.789G>C NP_065829.4:p.Leu263Phe NC_000015.10:84840067:G:C p.(Leu263Phe) NC_000015.10:84840067:G:C p.(Leu263Phe) NC_000015.10:84840067:G:C Identity +NM_001345962.2:c.667A>T NP_001332891.1:p.Ile223Phe NC_000004.12:83462704:T:A p.(Ile223Phe) NC_000004.12:83462704:T:A p.(Ile223Phe) NC_000004.12:83462704:T:A Identity +NM_000214.3:c.3083T>C NP_000205.1:p.Ile1028Thr NC_000020.11:10640898:A:G p.(Ile1028Thr) NC_000020.11:10640898:A:G p.(Ile1028Thr) NC_000020.11:10640898:A:G Identity +NM_000038.6:c.3092A>G NP_000029.2:p.Tyr1031Cys NC_000005.10:112838685:A:G p.(Tyr1031Cys) NC_000005.10:112838685:A:G p.(Tyr1031Cys) NC_000005.10:112838685:A:G Identity +NM_198578.4:c.785T>C NP_940980.4:p.Met262Thr NC_000012.12:40243627:T:C p.(Met262Thr) NC_000012.12:40243627:T:C p.(Met262Thr) NC_000012.12:40243627:T:C Identity +NM_001365951.3:c.3226C>A NP_001352880.1:p.Pro1076Thr NC_000001.11:10337169:C:A p.(Pro1076Thr) NC_000001.11:10337169:C:A p.(Pro1076Thr) NC_000001.11:10337169:C:A Identity +NM_003079.5:c.959del NP_003070.3:p.Pro320fs NC_000017.11:40630781:GG:G p.(Pro320LeufsTer122) NC_000017.11:40630781:GG:G p.(Pro320LeufsTer122) NC_000017.11:40630781:G: Analogous +NM_001110556.2:c.1342C>T NP_001104026.1:p.Pro448Ser NC_000023.11:154366110:G:A p.(Pro448Ser) NC_000023.11:154366110:G:A p.(Pro448Ser) NC_000023.11:154366110:G:A Identity +NM_052947.4:c.3181T>A NP_443179.3:p.Leu1061Ile NC_000018.10:58537005:A:T p.(Leu1061Ile) NC_000018.10:58537005:A:T p.(Leu1061Ile) NC_000018.10:58537005:A:T Identity +NM_001367624.2:c.482C>T NP_001354553.1:p.Pro161Leu NC_000016.10:88427951:C:T p.(Pro161Leu) NC_000016.10:88427951:C:T p.(Pro161Leu) NC_000016.10:88427951:C:T Identity +NM_001081640.2:c.2425A>T NP_001075109.1:p.Thr809Ser NC_000008.11:47918377:T:A p.(Thr809Ser) NC_000008.11:47918377:T:A p.(Thr809Ser) NC_000008.11:47918377:T:A Identity +NM_058216.3:c.527G>C NP_478123.1:p.Cys176Ser NC_000017.11:58696814:G:C p.(Cys176Ser) NC_000017.11:58696814:G:C p.(Cys176Ser) NC_000017.11:58696814:G:C Identity +NM_001406482.1:c.1A>T NP_001393411.1:p.Met1Leu NC_000015.10:34794807:T:A p.(Met1Leu) NC_000015.10:34794807:T:A p.Met1? NC_000015.10:34794807:T:A Identity +NM_001411020.1:c.1483T>A NP_001397949.1:p.Ser495Thr NC_000014.9:50159700:A:T p.(Ser495Thr) NC_000014.9:50159700:A:T p.(Ser495Thr) NC_000014.9:50159700:A:T Identity +NM_001081640.2:c.2252C>T NP_001075109.1:p.Ala751Val NC_000008.11:47927777:G:A p.(Ala751Val) NC_000008.11:47927777:G:A p.(Ala751Val) NC_000008.11:47927777:G:A Identity +NM_001081640.2:c.1910A>G NP_001075109.1:p.Lys637Arg NC_000008.11:47929994:T:C p.(Lys637Arg) NC_000008.11:47929994:T:C p.(Lys637Arg) NC_000008.11:47929994:T:C Identity +NM_000548.5:c.2120A>G NP_000539.2:p.Lys707Arg NC_000016.10:2072262:A:G p.(Lys707Arg) NC_000016.10:2072262:A:G p.(Lys707Arg) NC_000016.10:2072262:A:G Identity +NM_001098623.2:c.7486C>T NP_001092093.2:p.Pro2496Ser NC_000001.11:228279909:C:T p.(Pro2496Ser) NC_000001.11:228279909:C:T p.(Pro2496Ser) NC_000001.11:228279909:C:T Identity +NM_001430.5:c.630T>A NP_001421.2:p.Ser210Arg NC_000002.12:46360940:T:A p.(Ser210Arg) NC_000002.12:46360940:T:A p.(Ser210Arg) NC_000002.12:46360940:T:A Identity +NM_001284214.2:c.4949C>T NP_001271143.1:p.Ala1650Val NC_000002.12:229785820:G:A p.(Ala1650Val) NC_000002.12:229785820:G:A p.(Ala1650Val) NC_000002.12:229785820:G:A Identity +NM_001040108.2:c.542T>C NP_001035197.1:p.Met181Thr NC_000014.9:75049113:A:G p.(Met181Thr) NC_000014.9:75049113:A:G p.(Met181Thr) NC_000014.9:75049113:A:G Identity +NM_199420.4:c.3637A>G NP_955452.3:p.Ile1213Val NC_000003.12:121489293:T:C p.(Ile1213Val) NC_000003.12:121489293:T:C p.(Ile1213Val) NC_000003.12:121489293:T:C Identity +NM_001354689.3:c.1666A>G NP_001341618.1:p.Ile556Val NC_000003.12:12585183:T:C p.(Ile556Val) NC_000003.12:12585183:T:C p.(Ile556Val) NC_000003.12:12585183:T:C Identity +NM_001430.5:c.1566T>G NP_001421.2:p.Asn522Lys NC_000002.12:46380237:T:G p.(Asn522Lys) NC_000002.12:46380237:T:G p.(Asn522Lys) NC_000002.12:46380237:T:G Identity +NM_000349.3:c.814C>G NP_000340.2:p.Arg272Gly NC_000008.11:38144316:G:C p.(Arg272Gly) NC_000008.11:38144316:G:C p.(Arg272Gly) NC_000008.11:38144316:G:C Identity +NM_144688.5:c.981_982del NP_653289.3:p.Arg327fs NC_000019.10:49407656:AGAG:AG p.(Arg327SerfsTer22) NC_000019.10:49407656:AGAG:AG p.(Arg327SerfsTer22) NC_000019.10:49407658:AG: Analogous +NM_001330360.2:c.1864A>G NP_001317289.1:p.Arg622Gly NC_000023.11:24735428:A:G p.(Arg622Gly) NC_000023.11:24735428:A:G p.(Arg622Gly) NC_000023.11:24735428:A:G Identity +NM_000187.4:c.174A>T NP_000178.2:p.Arg58Ser NC_000003.12:120674902:T:A p.(Arg58Ser) NC_000003.12:120674902:T:A p.(Arg58Ser) NC_000003.12:120674902:T:A Identity +NM_007118.4:c.4649dup NP_009049.2:p.Asp1551fs NC_000005.10:14400995:GG:GGG p.(Asp1551ArgfsTer17) NC_000005.10:14400995:GG:GGG p.(Asp1551ArgfsTer17) ERR:SPDI Analogous +NM_005215.4:c.2280_2286del NP_005206.2:p.Ile760fs NC_000018.10:53339823:TTATCGGTTAT:TTAT p.(Ile760MetfsTer25) NC_000018.10:53339823:TTATCGGTTAT:TTAT p.(Ile760MetfsTer25) NC_000018.10:53339827:CGGTTAT: Analogous +NM_001081550.2:c.3341C>G NP_001075019.1:p.Thr1114Arg NC_000023.11:123623948:G:C p.(Thr1114Arg) NC_000023.11:123623948:G:C p.(Thr1114Arg) NC_000023.11:123623948:G:C Identity +NM_000187.4:c.457G>A NP_000178.2:p.Asp153Asn NC_000003.12:120647888:C:T p.(Asp153Asn) NC_000003.12:120647888:C:T p.(Asp153Asn) NC_000003.12:120647888:C:T Identity +NM_001243963.2:c.1897C>T NP_001230892.1:p.Arg633Ter NC_000023.11:115123093:G:A p.(Arg633Ter) NC_000023.11:115123093:G:A p.(Arg633Ter) NC_000023.11:115123093:G:A Identity +NM_001304815.2:c.3325A>G NP_001291744.1:p.Ile1109Val NC_000019.10:42287559:A:G p.(Ile1109Val) NC_000019.10:42287559:A:G p.(Ile1109Val) NC_000019.10:42287559:A:G Identity +NM_001846.4:c.2555C>T NP_001837.2:p.Pro852Leu NC_000013.11:110478131:C:T p.(Pro852Leu) NC_000013.11:110478131:C:T p.(Pro852Leu) NC_000013.11:110478131:C:T Identity +NM_199420.4:c.6376T>G NP_955452.3:p.Ser2126Ala NC_000003.12:121476568:A:C p.(Ser2126Ala) NC_000003.12:121476568:A:C p.(Ser2126Ala) NC_000003.12:121476568:A:C Identity +NM_199420.4:c.2884A>T NP_955452.3:p.Ser962Cys NC_000003.12:121490046:T:A p.(Ser962Cys) NC_000003.12:121490046:T:A p.(Ser962Cys) NC_000003.12:121490046:T:A Identity +NM_001135052.4:c.1379A>G NP_001128524.1:p.Lys460Arg NC_000009.12:90878819:A:G p.(Lys460Arg) NC_000009.12:90878819:A:G p.(Lys460Arg) NC_000009.12:90878819:A:G Identity +NM_001012509.4:c.328G>C NP_001012527.2:p.Gly110Arg NC_000005.10:33984255:C:G p.(Gly110Arg) NC_000005.10:33984255:C:G p.(Gly110Arg) NC_000005.10:33984255:C:G Identity +NM_000441.2:c.596T>C NP_000432.1:p.Ile199Thr NC_000007.14:107674343:T:C p.(Ile199Thr) NC_000007.14:107674343:T:C p.(Ile199Thr) NC_000007.14:107674343:T:C Identity +NM_001207000.1:c.241C>G NP_001193929.1:p.Arg81Gly NC_000004.12:82429449:G:C p.(Arg81Gly) NC_000004.12:82429449:G:C p.(Arg81Gly) NC_000004.12:82429449:G:C Identity +NM_000264.5:c.685A>T NP_000255.2:p.Ile229Phe NC_000009.12:95482009:T:A p.(Ile229Phe) NC_000009.12:95482009:T:A p.(Ile229Phe) NC_000009.12:95482009:T:A Identity +NM_000548.5:c.996G>T NP_000539.2:p.Glu332Asp NC_000016.10:2060689:G:T p.(Glu332Asp) NC_000016.10:2060689:G:T p.(Glu332Asp) NC_000016.10:2060689:G:T Identity +NM_000497.4:c.798C>G NP_000488.3:p.Tyr266Ter NC_000008.11:142876682:G:C p.(Tyr266Ter) NC_000008.11:142876682:G:C p.(Tyr266Ter) NC_000008.11:142876682:G:C Identity +NM_001363850.1:c.2T>G NP_001350779.1:p.Met1Arg NC_000016.10:89508418:T:G p.(Met1Arg) NC_000016.10:89508418:T:G p.Met1? NC_000016.10:89508418:T:G Identity +NM_001068.3:c.1274A>G NP_001059.2:p.Glu425Gly NC_000003.12:25630916:T:C p.(Glu425Gly) NC_000003.12:25630916:T:C p.(Glu425Gly) NC_000003.12:25630916:T:C Identity +NM_000187.4:c.614G>A NP_000178.2:p.Gly205Asp NC_000003.12:120646301:C:T p.(Gly205Asp) NC_000003.12:120646301:C:T p.(Gly205Asp) NC_000003.12:120646301:C:T Identity +NM_001370598.1:c.34G>A NP_001357527.1:p.Glu12Lys NC_000012.12:111217934:G:A p.(Glu12Lys) NC_000012.12:111217934:G:A p.(Glu12Lys) NC_000012.12:111217934:G:A Identity +NM_001190274.2:c.1459T>C NP_001177203.1:p.Tyr487His NC_000002.12:47823299:A:G p.(Tyr487His) NC_000002.12:47823299:A:G p.(Tyr487His) NC_000002.12:47823299:A:G Identity +NM_001110556.2:c.2941G>T NP_001104026.1:p.Glu981Ter NC_000023.11:154361672:C:A p.(Glu981Ter) NC_000023.11:154361672:C:A p.(Glu981Ter) NC_000023.11:154361672:C:A Identity +NM_021224.6:c.3965C>T NP_067047.4:p.Thr1322Met NC_000009.12:106927876:C:T p.(Thr1322Met) NC_000009.12:106927876:C:T p.(Thr1322Met) NC_000009.12:106927876:C:T Identity +NM_006790.3:c.167C>T NP_006781.1:p.Ser56Leu NC_000005.10:137870817:C:T p.(Ser56Leu) NC_000005.10:137870817:C:T p.(Ser56Leu) NC_000005.10:137870817:C:T Identity +NM_032317.3:c.130_131del NP_115693.2:p.Ser44fs NC_000007.14:73683292:GAG:G p.(Ser44ValfsTer8) NC_000007.14:73683292:GAG:G p.(Ser44ValfsTer8) NC_000007.14:73683292:GA: Analogous +NM_024496.4:c.2018C>G NP_078772.1:p.Ala673Gly NC_000014.9:77025774:G:C p.(Ala673Gly) NC_000014.9:77025774:G:C p.(Ala673Gly) NC_000014.9:77025774:G:C Identity +NM_207361.6:c.215T>C NP_997244.4:p.Ile72Thr NC_000013.11:38687558:T:C p.(Ile72Thr) NC_000013.11:38687558:T:C p.(Ile72Thr) NC_000013.11:38687558:T:C Identity +NM_133379.5:c.11106G>C NP_596870.2:p.Leu3702Phe NC_000002.12:178751293:C:G p.(Leu3702Phe) NC_000002.12:178751293:C:G p.(Leu3702Phe) NC_000002.12:178751293:C:G Identity +NM_001145541.1:c.391A>G NP_001139013.1:p.Ile131Val NC_000011.10:33057208:A:G p.(Ile131Val) NC_000011.10:33057208:A:G p.(Ile131Val) NC_000011.10:33057208:A:G Identity +NM_000350.3:c.4192G>A NP_000341.2:p.Gly1398Ser NC_000001.11:94031056:C:T p.(Gly1398Ser) NC_000001.11:94031056:C:T p.(Gly1398Ser) NC_000001.11:94031056:C:T Identity +NM_003482.4:c.1035_1036del NP_003473.3:p.Cys346fs NC_000012.12:49052990:AGAGAGAG:AGAGAG p.(Cys346SerfsTer17) NC_000012.12:49052990:AGAGAGAG:AGAGAG p.(Cys346SerfsTer17) NC_000012.12:49052990:AG: Analogous +NM_001142864.4:c.2447A>G NP_001136336.2:p.Lys816Arg NC_000016.10:88733627:T:C p.(Lys816Arg) NC_000016.10:88733627:T:C p.(Lys816Arg) NC_000016.10:88733627:T:C Identity +NM_001003694.2:c.737A>G NP_001003694.1:p.Glu246Gly NC_000003.12:9739135:A:G p.(Glu246Gly) NC_000003.12:9739135:A:G p.(Glu246Gly) NC_000003.12:9739135:A:G Identity +NM_001424113.1:c.3959C>G NP_001411042.1:p.Ser1320Ter NC_000006.12:75151907:G:C p.(Ser1320Ter) NC_000006.12:75151907:G:C p.(Ser1320Ter) NC_000006.12:75151907:G:C Identity +NM_001301128.2:c.2680C>A NP_001288057.1:p.Pro894Thr NC_000007.14:78160147:G:T p.(Pro894Thr) NC_000007.14:78160147:G:T p.(Pro894Thr) NC_000007.14:78160147:G:T Identity +NM_001170629.2:c.3185G>A NP_001164100.1:p.Arg1062Gln NC_000014.9:21405330:C:T p.(Arg1062Gln) NC_000014.9:21405330:C:T p.(Arg1062Gln) NC_000014.9:21405330:C:T Identity +NM_001267550.2:c.34321G>A NP_001254479.2:p.Glu11441Lys NC_000002.12:178677257:C:T p.(Glu11441Lys) NC_000002.12:178677257:C:T p.(Glu11441Lys) NC_000002.12:178677257:C:T Identity +NM_006662.3:c.5011C>T NP_006653.2:p.Pro1671Ser NC_000016.10:30724434:C:T p.(Pro1671Ser) NC_000016.10:30724434:C:T p.(Pro1671Ser) NC_000016.10:30724434:C:T Identity +NM_001329126.2:c.5086A>G NP_001316055.1:p.Ile1696Val NC_000003.12:132507308:A:G p.(Ile1696Val) NC_000003.12:132507308:A:G p.(Ile1696Val) NC_000003.12:132507308:A:G Identity +NM_015356.5:c.692G>A NP_056171.3:p.Arg231Gln NC_000008.11:143812911:C:T p.(Arg231Gln) NC_000008.11:143812911:C:T p.(Arg231Gln) NC_000008.11:143812911:C:T Identity +NM_001384900.1:c.1527G>A NP_001371829.1:p.Met509Ile NC_000007.14:85018269:C:T p.(Met509Ile) NC_000007.14:85018269:C:T p.(Met509Ile) NC_000007.14:85018269:C:T Identity +NM_001166660.2:c.2420G>A NP_001160132.1:p.Arg807Gln NC_000023.11:71170089:G:A p.(Arg807Gln) NC_000023.11:71170089:G:A p.(Arg807Gln) NC_000023.11:71170089:G:A Identity +NM_001243900.3:c.890C>T NP_001230829.1:p.Pro297Leu NC_000002.12:241256274:G:A p.(Pro297Leu) NC_000002.12:241256274:G:A p.(Pro297Leu) NC_000002.12:241256274:G:A Identity +NM_001178129.2:c.302C>A NP_001171600.1:p.Pro101His NC_000007.14:83418457:G:T p.(Pro101His) NC_000007.14:83418457:G:T p.(Pro101His) NC_000007.14:83418457:G:T Identity +NM_000540.3:c.4105C>T NP_000531.2:p.Pro1369Ser NC_000019.10:38473715:C:T p.(Pro1369Ser) NC_000019.10:38473715:C:T p.(Pro1369Ser) NC_000019.10:38473715:C:T Identity +NM_001079872.2:c.181_182del NP_001073341.1:p.Thr61fs NC_000023.11:120560456:GTG:G p.(Thr61LeufsTer43) NC_000023.11:120560456:GTG:G p.(Thr61LeufsTer43) NC_000023.11:120560456:GT: Analogous +NM_001411132.1:c.6043_6044del NP_001398061.1:p.Thr2015fs NC_000015.10:44573563:GT: p.(Thr2015PhefsTer8) NC_000015.10:44573563:GT: p.(Thr2015PhefsTer8) NC_000015.10:44573563:GT: Analogous +NM_019066.5:c.3076G>T NP_061939.3:p.Ala1026Ser NC_000015.10:23644666:C:A p.(Ala1026Ser) NC_000015.10:23644666:C:A p.(Ala1026Ser) NC_000015.10:23644666:C:A Identity +NM_001256617.2:c.1015G>A NP_001243546.1:p.Glu339Lys NC_000010.11:133293131:C:T p.(Glu339Lys) NC_000010.11:133293131:C:T p.(Glu339Lys) NC_000010.11:133293131:C:T Identity +NM_000187.4:c.589A>G NP_000178.2:p.Arg197Gly NC_000003.12:120646326:T:C p.(Arg197Gly) NC_000003.12:120646326:T:C p.(Arg197Gly) NC_000003.12:120646326:T:C Identity +NM_000187.4:c.553G>A NP_000178.2:p.Gly185Arg NC_000003.12:120646362:C:T p.(Gly185Arg) NC_000003.12:120646362:C:T p.(Gly185Arg) NC_000003.12:120646362:C:T Identity +NM_020338.4:c.3150dup NP_065071.1:p.Asp1051fs NC_000010.11:79312688:CCCCCCC:CCCCCCCC p.(Asp1051ArgfsTer6) NC_000010.11:79312688:CCCCCCC:CCCCCCCC p.(Asp1051ArgfsTer6) ERR:SPDI Analogous +NM_000443.4:c.2371G>T NP_000434.1:p.Ala791Ser NC_000007.14:87420020:C:A p.(Ala791Ser) NC_000007.14:87420020:C:A p.(Ala791Ser) NC_000007.14:87420020:C:A Identity +NM_005045.4:c.5986A>G NP_005036.2:p.Met1996Val NC_000007.14:103553546:T:C p.(Met1996Val) NC_000007.14:103553546:T:C p.(Met1996Val) NC_000007.14:103553546:T:C Identity +NM_001282145.2:c.122G>A NP_001269074.1:p.Ser41Asn NC_000023.11:6151344:C:T p.(Ser41Asn) NC_000023.11:6151344:C:T p.(Ser41Asn) NC_000023.11:6151344:C:T Identity +NM_006015.6:c.5606G>A NP_006006.3:p.Arg1869Gln NC_000001.11:26779503:G:A p.(Arg1869Gln) NC_000001.11:26779503:G:A p.(Arg1869Gln) NC_000001.11:26779503:G:A Identity +NM_001348729.2:c.2952A>G NP_001335658.1:p.Ile984Met NC_000002.12:8770731:T:C p.(Ile984Met) NC_000002.12:8770731:T:C p.(Ile984Met) NC_000002.12:8770731:T:C Identity +NM_001098816.3:c.7504G>A NP_001092286.2:p.Glu2502Lys NC_000011.10:78661495:C:T p.(Glu2502Lys) NC_000011.10:78661495:C:T p.(Glu2502Lys) NC_000011.10:78661495:C:T Identity +NM_000393.5:c.167C>T NP_000384.2:p.Pro56Leu NC_000002.12:189110379:G:A p.(Pro56Leu) NC_000002.12:189110379:G:A p.(Pro56Leu) NC_000002.12:189110379:G:A Identity +NM_000939.4:c.668T>C NP_000930.1:p.Met223Thr NC_000002.12:25161216:A:G p.(Met223Thr) NC_000002.12:25161216:A:G p.(Met223Thr) NC_000002.12:25161216:A:G Identity +NM_017514.5:c.1808G>A NP_059984.3:p.Arg603Gln NC_000023.11:154464292:G:A p.(Arg603Gln) NC_000023.11:154464292:G:A p.(Arg603Gln) NC_000023.11:154464292:G:A Identity +NM_138295.5:c.8342T>C NP_612152.1:p.Met2781Thr NC_000007.14:47796001:A:G p.(Met2781Thr) NC_000007.14:47796001:A:G p.(Met2781Thr) NC_000007.14:47796001:A:G Identity +NM_000296.4:c.8291T>A NP_000287.4:p.Met2764Lys NC_000016.10:2103765:A:T p.(Met2764Lys) NC_000016.10:2103765:A:T p.(Met2764Lys) NC_000016.10:2103765:A:T Identity +NM_007055.4:c.2913dup NP_008986.2:p.Phe972fs NC_000010.11:77986147:TTTTTTT:TTTTTTTT p.(Phe972IlefsTer3) NC_000010.11:77986147:TTTTTTT:TTTTTTTT p.(Phe972IlefsTer3) ERR:SPDI Analogous +NM_005559.4:c.524G>A NP_005550.2:p.Arg175Lys NC_000018.10:7050757:C:T p.(Arg175Lys) NC_000018.10:7050757:C:T p.(Arg175Lys) NC_000018.10:7050757:C:T Identity +NM_001190992.2:c.544G>A NP_001177921.1:p.Ala182Thr NC_000003.12:155853453:C:T p.(Ala182Thr) NC_000003.12:155853453:C:T p.(Ala182Thr) NC_000003.12:155853453:C:T Identity +NM_001370598.1:c.488G>A NP_001357527.1:p.Arg163Gln NC_000012.12:111296508:G:A p.(Arg163Gln) NC_000012.12:111296508:G:A p.(Arg163Gln) NC_000012.12:111296508:G:A Identity +NM_001873.4:c.88C>G NP_001864.1:p.Pro30Ala NC_000004.12:165379308:C:G p.(Pro30Ala) NC_000004.12:165379308:C:G p.(Pro30Ala) NC_000004.12:165379308:C:G Identity +NM_001306129.2:c.6175G>A NP_001293058.2:p.Glu2059Lys NC_000002.12:215373393:C:T p.(Glu2059Lys) NC_000002.12:215373393:C:T p.(Glu2059Lys) NC_000002.12:215373393:C:T Identity +NM_001362837.2:c.266C>T NP_001349766.1:p.Ala89Val NC_000008.11:105788846:C:T p.(Ala89Val) NC_000008.11:105788846:C:T p.(Ala89Val) NC_000008.11:105788846:C:T Identity +NM_001393897.1:c.1399G>A NP_001380826.1:p.Ala467Thr NC_000007.14:132298194:C:T p.(Ala467Thr) NC_000007.14:132298194:C:T p.(Ala467Thr) NC_000007.14:132298194:C:T Identity +NM_001164317.2:c.637C>T NP_001157789.1:p.Gln213Ter NC_000003.12:58078811:C:T p.(Gln213Ter) NC_000003.12:58078811:C:T p.(Gln213Ter) NC_000003.12:58078811:C:T Identity +NM_001256477.1:c.25C>A NP_001243406.1:p.Arg9Ser NC_000002.12:6865671:G:T p.(Arg9Ser) NC_000002.12:6865671:G:T p.(Arg9Ser) NC_000002.12:6865671:G:T Identity +NM_001171162.1:c.1830A>C NP_001164633.1:p.Gln610His NC_000023.11:71248306:T:G p.(Gln610His) NC_000023.11:71248306:T:G p.(Gln610His) NC_000023.11:71248306:T:G Identity +NM_001844.5:c.1488G>T NP_001835.3:p.Glu496Asp NC_000012.12:47986374:C:A p.(Glu496Asp) NC_000012.12:47986374:C:A p.(Glu496Asp) NC_000012.12:47986374:C:A Identity +NM_001257359.2:c.568C>T NP_001244288.1:p.Arg190Ter NC_000017.11:50116021:G:A p.(Arg190Ter) NC_000017.11:50116021:G:A p.(Arg190Ter) NC_000017.11:50116021:G:A Identity +NM_014727.3:c.5008A>G NP_055542.1:p.Ser1670Gly NC_000019.10:35730056:A:G p.(Ser1670Gly) NC_000019.10:35730056:A:G p.(Ser1670Gly) NC_000019.10:35730056:A:G Identity +NM_004714.3:c.254A>G NP_004705.1:p.Lys85Arg NC_000019.10:39830492:T:C p.(Lys85Arg) NC_000019.10:39830492:T:C p.(Lys85Arg) NC_000019.10:39830492:T:C Identity +NM_000212.3:c.2245G>A NP_000203.2:p.Asp749Asn NC_000017.11:47307580:G:A p.(Asp749Asn) NC_000017.11:47307580:G:A p.(Asp749Asn) NC_000017.11:47307580:G:A Identity +NM_001278268.2:c.1298C>G NP_001265197.1:p.Thr433Arg NC_000018.10:62369256:C:G p.(Thr433Arg) NC_000018.10:62369256:C:G p.(Thr433Arg) NC_000018.10:62369256:C:G Identity +NM_001286734.2:c.2151A>T NP_001273663.1:p.Glu717Asp NC_000004.12:103160684:T:A p.(Glu717Asp) NC_000004.12:103160684:T:A p.(Glu717Asp) NC_000004.12:103160684:T:A Identity +NM_001166110.2:c.11T>C NP_001159582.1:p.Leu4Pro NC_000004.12:168877901:T:C p.(Leu4Pro) NC_000004.12:168877901:T:C p.(Leu4Pro) NC_000004.12:168877901:T:C Identity +NM_005762.3:c.1361G>A NP_005753.1:p.Gly454Glu NC_000019.10:58548861:G:A p.(Gly454Glu) NC_000019.10:58548861:G:A p.(Gly454Glu) NC_000019.10:58548861:G:A Identity +NM_001035511.3:c.364C>T NP_001030588.1:p.His122Tyr NC_000001.11:161362450:C:T p.(His122Tyr) NC_000001.11:161362450:C:T p.(His122Tyr) NC_000001.11:161362450:C:T Identity +NM_004369.4:c.46T>A NP_004360.2:p.Phe16Ile NC_000002.12:237396771:A:T p.(Phe16Ile) NC_000002.12:237396771:A:T p.(Phe16Ile) NC_000002.12:237396771:A:T Identity +NM_001256053.2:c.4587_4588delinsAAT NP_001242982.1:p.Lys1530fs NC_000010.11:27014626:TA:ATT p.(Lys1530IlefsTer6) NC_000010.11:27014626:TA:ATT p.(Lys1530IlefsTer6) NC_000010.11:27014626:TA:ATT Analogous +NM_000577.5:c.87del NP_000568.1:p.Phe30fs NC_000002.12:113129598:CC:C p.(Phe30SerfsTer3) NC_000002.12:113129598:CC:C p.(Phe30SerfsTer3) NC_000002.12:113129599:C: Analogous +NM_003823.4:c.65T>C NP_003814.1:p.Leu22Pro NC_000020.11:63696831:T:C p.(Leu22Pro) NC_000020.11:63696831:T:C p.(Leu22Pro) NC_000020.11:63696831:T:C Identity +NM_001077186.2:c.5072C>T NP_001070654.1:p.Thr1691Ile NC_000019.10:50292303:C:T p.(Thr1691Ile) NC_000019.10:50292303:C:T p.(Thr1691Ile) NC_000019.10:50292303:C:T Identity +NM_001349608.2:c.2341C>T NP_001336537.1:p.Arg781Trp NC_000001.11:7664977:C:T p.(Arg781Trp) NC_000001.11:7664977:C:T p.(Arg781Trp) NC_000001.11:7664977:C:T Identity +NM_001136157.2:c.1100C>T NP_001129629.1:p.Ser367Leu NC_000023.11:48926009:G:A p.(Ser367Leu) NC_000023.11:48926009:G:A p.(Ser367Leu) NC_000023.11:48926009:G:A Identity +NM_001719.3:c.986C>G NP_001710.1:p.Ala329Gly NC_000020.11:57174979:G:C p.(Ala329Gly) NC_000020.11:57174979:G:C p.(Ala329Gly) NC_000020.11:57174979:G:C Identity +NM_001160210.2:c.848G>C NP_001153682.1:p.Gly283Ala NC_000007.14:96189580:C:G p.(Gly283Ala) NC_000007.14:96189580:C:G p.(Gly283Ala) NC_000007.14:96189580:C:G Identity +NM_002526.4:c.1264G>T NP_002517.1:p.Asp422Tyr NC_000006.12:85490560:G:T p.(Asp422Tyr) NC_000006.12:85490560:G:T p.(Asp422Tyr) NC_000006.12:85490560:G:T Identity +NM_001008844.3:c.1417C>A NP_001008844.1:p.Gln473Lys NC_000006.12:7568586:C:A p.(Gln473Lys) NC_000006.12:7568586:C:A p.(Gln473Lys) NC_000006.12:7568586:C:A Identity +NM_014712.3:c.1415C>T NP_055527.1:p.Ala472Val NC_000016.10:30965156:C:T p.(Ala472Val) NC_000016.10:30965156:C:T p.(Ala472Val) NC_000016.10:30965156:C:T Identity +NM_001173463.2:c.2801T>C NP_001166934.1:p.Met934Thr NC_000012.12:39332606:A:G p.(Met934Thr) NC_000012.12:39332606:A:G p.(Met934Thr) NC_000012.12:39332606:A:G Identity +NM_032193.4:c.483dup NP_115569.2:p.Pro162fs NC_000011.10:65719794:C:CC p.(Pro162AlafsTer9) NC_000011.10:65719794:C:CC p.(Pro162AlafsTer9) ERR:SPDI Analogous +NM_005121.3:c.416T>C NP_005112.2:p.Ile139Thr NC_000017.11:62052590:A:G p.(Ile139Thr) NC_000017.11:62052590:A:G p.(Ile139Thr) NC_000017.11:62052590:A:G Identity +NM_000216.4:c.484A>G NP_000207.2:p.Lys162Glu NC_000023.11:8597090:T:C p.(Lys162Glu) NC_000023.11:8597090:T:C p.(Lys162Glu) NC_000023.11:8597090:T:C Identity +NM_001362836.2:c.3016C>T NP_001349765.1:p.Gln1006Ter NC_000008.11:105803256:C:T p.(Gln1006Ter) NC_000008.11:105803256:C:T p.(Gln1006Ter) NC_000008.11:105803256:C:T Identity +NM_001143981.2:c.21G>T NP_001137453.1:p.Met7Ile NC_000023.11:110792160:C:A p.(Met7Ile) NC_000023.11:110792160:C:A p.(Met7Ile) NC_000023.11:110792160:C:A Identity +NM_001135943.2:c.382T>C NP_001129415.1:p.Ser128Pro NC_000011.10:47274881:T:C p.(Ser128Pro) NC_000011.10:47274881:T:C p.(Ser128Pro) NC_000011.10:47274881:T:C Identity +NM_001318193.2:c.407G>T NP_001305122.2:p.Gly136Val NC_000016.10:2043673:C:A p.(Gly136Val) NC_000016.10:2043673:C:A p.(Gly136Val) NC_000016.10:2043673:C:A Identity +NM_001353345.2:c.4059G>T NP_001340274.1:p.Glu1353Asp NC_000012.12:121822637:G:T p.(Glu1353Asp) NC_000012.12:121822637:G:T p.(Glu1353Asp) NC_000012.12:121822637:G:T Identity +NM_017514.5:c.4621A>G NP_059984.3:p.Ile1541Val NC_000023.11:154469404:A:G p.(Ile1541Val) NC_000023.11:154469404:A:G p.(Ile1541Val) NC_000023.11:154469404:A:G Identity +NM_001349608.2:c.3367T>C NP_001336537.1:p.Ser1123Pro NC_000001.11:7737368:T:C p.(Ser1123Pro) NC_000001.11:7737368:T:C p.(Ser1123Pro) NC_000001.11:7737368:T:C Identity +NM_022725.4:c.205G>T NP_073562.1:p.Glu69Ter NC_000011.10:22625605:C:A p.(Glu69Ter) NC_000011.10:22625605:C:A p.(Glu69Ter) NC_000011.10:22625605:C:A Identity +NM_001350914.2:c.2156T>C NP_001337843.1:p.Leu719Pro NC_000007.14:158926222:T:C p.(Leu719Pro) NC_000007.14:158926222:T:C p.(Leu719Pro) NC_000007.14:158926222:T:C Identity +NM_001099432.3:c.1572G>A NP_001092902.1:p.Met524Ile NC_000017.11:61015835:G:A p.(Met524Ile) NC_000017.11:61015835:G:A p.(Met524Ile) NC_000017.11:61015835:G:A Identity +NM_000170.3:c.2192T>G NP_000161.2:p.Met731Arg NC_000009.12:6556162:A:C p.(Met731Arg) NC_000009.12:6556162:A:C p.(Met731Arg) NC_000009.12:6556162:A:C Identity +NM_000475.5:c.702del NP_000466.2:p.Trp235fs NC_000023.11:30308661:GGGGG:GGGG p.(Trp235GlyfsTer29) NC_000023.11:30308661:GGGGG:GGGG p.(Trp235GlyfsTer29) NC_000023.11:30308661:G: Analogous +NM_003482.4:c.7601T>C NP_003473.3:p.Met2534Thr NC_000012.12:49040168:A:G p.(Met2534Thr) NC_000012.12:49040168:A:G p.(Met2534Thr) NC_000012.12:49040168:A:G Identity +NM_001165412.2:c.942_946delinsTGG NP_001158884.1:p.Lys314fs NC_000004.12:102584698:AACTC:TGG p.(Lys314AsnfsTer5) NC_000004.12:102584698:AACTC:TGG p.(Lys314AsnfsTer5) NC_000004.12:102584698:AACTC:TGG Analogous +NM_001291415.2:c.224A>C NP_001278344.1:p.Lys75Thr NC_000023.11:44873985:A:C p.(Lys75Thr) NC_000023.11:44873985:A:C p.(Lys75Thr) NC_000023.11:44873985:A:C Identity +NM_001311311.2:c.298C>T NP_001298240.1:p.His100Tyr NC_000016.10:31092851:G:A p.(His100Tyr) NC_000016.10:31092851:G:A p.(His100Tyr) NC_000016.10:31092851:G:A Identity +NM_001291415.2:c.2005C>G NP_001278344.1:p.Leu669Val NC_000023.11:45063742:C:G p.(Leu669Val) NC_000023.11:45063742:C:G p.(Leu669Val) NC_000023.11:45063742:C:G Identity +NM_001407041.1:c.931C>G NP_001393970.1:p.Gln311Glu NC_000018.10:51059891:C:G p.(Gln311Glu) NC_000018.10:51059891:C:G p.(Gln311Glu) NC_000018.10:51059891:C:G Identity +NM_001145468.4:c.152A>G NP_001138940.4:p.Lys51Arg NC_000022.11:24302382:A:G p.(Lys51Arg) NC_000022.11:24302382:A:G p.(Lys51Arg) NC_000022.11:24302382:A:G Identity +NM_001145468.4:c.1933G>A NP_001138940.4:p.Ala645Thr NC_000022.11:24322912:G:A p.(Ala645Thr) NC_000022.11:24322912:G:A p.(Ala645Thr) NC_000022.11:24322912:G:A Identity +NM_001271534.3:c.1454C>T NP_001258463.1:p.Thr485Ile NC_000021.9:40339171:G:A p.(Thr485Ile) NC_000021.9:40339171:G:A p.(Thr485Ile) NC_000021.9:40339171:G:A Identity +NM_001382235.1:c.2566G>C NP_001369164.1:p.Glu856Gln NC_000020.11:63406750:C:G p.(Glu856Gln) NC_000020.11:63406750:C:G p.(Glu856Gln) NC_000020.11:63406750:C:G Identity +NM_033071.5:c.15373C>T NP_149062.2:p.Arg5125Ter NC_000006.12:152325154:G:A p.(Arg5125Ter) NC_000006.12:152325154:G:A p.(Arg5125Ter) NC_000006.12:152325154:G:A Identity +NM_004963.4:c.1750T>A NP_004954.2:p.Phe584Ile NC_000012.12:14645275:A:T p.(Phe584Ile) NC_000012.12:14645275:A:T p.(Phe584Ile) NC_000012.12:14645275:A:T Identity +NM_001244008.2:c.2827G>A NP_001230937.1:p.Asp943Asn NC_000002.12:240757349:C:T p.(Asp943Asn) NC_000002.12:240757349:C:T p.(Asp943Asn) NC_000002.12:240757349:C:T Identity +NM_018190.4:c.1904A>G NP_060660.2:p.His635Arg NC_000004.12:121828255:T:C p.(His635Arg) NC_000004.12:121828255:T:C p.(His635Arg) NC_000004.12:121828255:T:C Identity +NM_001363734.1:c.2095C>T NP_001350663.1:p.Gln699Ter NC_000020.11:32434989:C:T p.(Gln699Ter) NC_000020.11:32434989:C:T p.(Gln699Ter) NC_000020.11:32434989:C:T Identity +NM_001318372.2:c.3169C>T NP_001305301.1:p.Pro1057Ser NC_000013.11:66631254:G:A p.(Pro1057Ser) NC_000013.11:66631254:G:A p.(Pro1057Ser) NC_000013.11:66631254:G:A Identity +NM_003923.3:c.89G>A NP_003914.1:p.Arg30Gln NC_000008.11:144475667:C:T p.(Arg30Gln) NC_000008.11:144475667:C:T p.(Arg30Gln) NC_000008.11:144475667:C:T Identity +NM_001413184.1:c.2857T>G NP_001400113.1:p.Trp953Gly NC_000008.11:67240283:A:C p.(Trp953Gly) NC_000008.11:67240283:A:C p.(Trp953Gly) NC_000008.11:67240283:A:C Identity +NM_153700.2:c.2761_2762delinsC NP_714544.1:p.Asp921fs NC_000015.10:43612811:TC:G p.(Asp921LeufsTer16) NC_000015.10:43612811:TC:G p.(Asp921LeufsTer16) NC_000015.10:43612811:TC:G Analogous +NM_030761.5:c.203G>A NP_110388.2:p.Arg68His NC_000001.11:22129725:C:T p.(Arg68His) NC_000001.11:22129725:C:T p.(Arg68His) NC_000001.11:22129725:C:T Identity +NM_000168.6:c.4621_4625dup NP_000159.3:p.Ala1543fs NC_000007.14:41964447:CGAGGCG:CGAGGCGAGGCG p.(Ala1543LeufsTer12) NC_000007.14:41964447:CGAGGCG:CGAGGCGAGGCG p.(Ala1543LeufsTer12) ERR:SPDI Analogous +NM_004973.4:c.488T>C NP_004964.2:p.Leu163Pro NC_000006.12:15452169:T:C p.(Leu163Pro) NC_000006.12:15452169:T:C p.(Leu163Pro) NC_000006.12:15452169:T:C Identity +NM_000282.4:c.1298del NP_000273.2:p.Ser433fs NC_000013.11:100307204:G: p.(Ser433MetfsTer16) NC_000013.11:100307204:G: p.(Ser433MetfsTer16) NC_000013.11:100307204:G: Analogous +NM_001278055.2:c.13219T>A NP_001264984.1:p.Ser4407Thr NC_000013.11:23330215:A:T p.(Ser4407Thr) NC_000013.11:23330215:A:T p.(Ser4407Thr) NC_000013.11:23330215:A:T Identity +NM_001089.3:c.4483_4507del NP_001080.2:p.Val1495fs NC_000016.10:2278982:GCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCG:GCAGGCCCCG p.(Val1495CysfsTer21) NC_000016.10:2278982:GCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCG:GCAGGCCCCG p.(Val1495CysfsTer21) NC_000016.10:2278982:GCAGGCCCCGCAGAGTGTTCTCCAC: Analogous +NM_004501.3:c.856C>G NP_004492.2:p.Arg286Gly NC_000001.11:244860438:G:C p.(Arg286Gly) NC_000001.11:244860438:G:C p.(Arg286Gly) NC_000001.11:244860438:G:C Identity +NM_001008657.3:c.802G>A NP_001008657.1:p.Glu268Lys NC_000005.10:150372167:G:A p.(Glu268Lys) NC_000005.10:150372167:G:A p.(Glu268Lys) NC_000005.10:150372167:G:A Identity +NM_004429.5:c.35G>A NP_004420.1:p.Trp12Ter NC_000023.11:68829810:G:A p.(Trp12Ter) NC_000023.11:68829810:G:A p.(Trp12Ter) NC_000023.11:68829810:G:A Identity +NM_001256850.1:c.7467C>A NP_001243779.1:p.Asp2489Glu NC_000002.12:178773588:G:T p.(Asp2489Glu) NC_000002.12:178773588:G:T p.(Asp2489Glu) NC_000002.12:178773588:G:T Identity +NM_001164443.1:c.2933A>G NP_001157915.1:p.Asp978Gly NC_000005.10:75146477:T:C p.(Asp978Gly) NC_000005.10:75146477:T:C p.(Asp978Gly) NC_000005.10:75146477:T:C Identity +NM_020754.4:c.676A>C NP_065805.2:p.Asn226His NC_000003.12:119383219:A:C p.(Asn226His) NC_000003.12:119383219:A:C p.(Asn226His) NC_000003.12:119383219:A:C Identity +NM_001127366.3:c.1368_1373delinsGTCCACC NP_001120838.1:p.Tyr457fs NC_000002.12:222201987:CTGTAG:GGTGGAC p.(Tyr457SerfsTer36) NC_000002.12:222201987:CTGTAGC:CGGTGGAC p.(Tyr457SerfsTer36) NC_000002.12:222201987:CTGTAG:GGTGGAC Analogous +NM_021926.4:c.484G>A NP_068745.2:p.Gly162Ser NC_000011.10:44275640:C:T p.(Gly162Ser) NC_000011.10:44275640:C:T p.(Gly162Ser) NC_000011.10:44275640:C:T Identity +NM_001035.3:c.1282A>G NP_001026.2:p.Arg428Gly NC_000001.11:237445511:A:G p.(Arg428Gly) NC_000001.11:237445511:A:G p.(Arg428Gly) NC_000001.11:237445511:A:G Identity +NM_006019.4:c.149G>T NP_006010.2:p.Arg50Leu NC_000011.10:68041783:G:T p.(Arg50Leu) NC_000011.10:68041783:G:T p.(Arg50Leu) NC_000011.10:68041783:G:T Identity +NM_014727.3:c.5231C>A NP_055542.1:p.Ser1744Tyr NC_000019.10:35730570:C:A p.(Ser1744Tyr) NC_000019.10:35730570:C:A p.(Ser1744Tyr) NC_000019.10:35730570:C:A Identity +NM_003718.5:c.2009C>A NP_003709.3:p.Thr670Lys NC_000007.14:39997630:C:A p.(Thr670Lys) NC_000007.14:39997630:C:A p.(Thr670Lys) NC_000007.14:39997630:C:A Identity +NM_001079812.3:c.1484del NP_001073280.1:p.Lys495fs NC_000005.10:141575096:TTTTT:TTTT p.(Lys495ArgfsTer48) NC_000005.10:141575096:TTTTT:TTTT p.(Lys495ArgfsTer48) NC_000005.10:141575096:T: Analogous +NM_001195286.2:c.245G>A NP_001182215.1:p.Arg82Gln NC_000006.12:394848:G:A p.(Arg82Gln) NC_000006.12:394848:G:A p.(Arg82Gln) NC_000006.12:394848:G:A Identity +NM_001253912.2:c.1069G>C NP_001240841.1:p.Glu357Gln NC_000004.12:38020686:G:C p.(Glu357Gln) NC_000004.12:38020686:G:C p.(Glu357Gln) NC_000004.12:38020686:G:C Identity +NM_000296.4:c.6089C>A NP_000287.4:p.Pro2030His NC_000016.10:2109077:G:T p.(Pro2030His) NC_000016.10:2109077:G:T p.(Pro2030His) NC_000016.10:2109077:G:T Identity +NM_001376.5:c.13405G>T NP_001367.2:p.Val4469Leu NC_000014.9:102049471:G:T p.(Val4469Leu) NC_000014.9:102049471:G:T p.(Val4469Leu) NC_000014.9:102049471:G:T Identity +NM_001378761.1:c.982del NP_001365690.1:p.Ile328fs NC_000011.10:121102688:AA:A p.(Ile328PhefsTer33) NC_000011.10:121102688:AA:A p.(Ile328PhefsTer33) NC_000011.10:121102689:A: Analogous +NM_001081676.2:c.301C>T NP_001075145.1:p.Arg101Ter NC_000002.12:165170511:G:A p.(Arg101Ter) NC_000002.12:165170511:G:A p.(Arg101Ter) NC_000002.12:165170511:G:A Identity +NM_001001323.2:c.2482ATT[1] NP_001001323.1:p.Ile829del NC_000012.12:89604301:AATAATA:AATA p.(Ile829del) NC_000012.12:89604306:T:AAT ERR:Parse ERR:Parse Identity +NM_000214.3:c.2300C>G NP_000205.1:p.Thr767Arg NC_000020.11:10644906:G:C p.(Thr767Arg) NC_000020.11:10644906:G:C p.(Thr767Arg) NC_000020.11:10644906:G:C Identity +NM_001083961.2:c.1961T>C NP_001077430.1:p.Val654Ala NC_000019.10:36090446:T:C p.(Val654Ala) NC_000019.10:36090446:T:C p.(Val654Ala) NC_000019.10:36090446:T:C Identity +NM_001288728.2:c.3368C>T NP_001275657.1:p.Ala1123Val NC_000010.11:102146719:C:T p.(Ala1123Val) NC_000010.11:102146719:C:T p.(Ala1123Val) NC_000010.11:102146719:C:T Identity +NM_001029882.3:c.2374G>A NP_001025053.1:p.Gly792Arg NC_000001.11:27549741:C:T p.(Gly792Arg) NC_000001.11:27549741:C:T p.(Gly792Arg) NC_000001.11:27549741:C:T Identity +NM_000392.5:c.2209T>C NP_000383.2:p.Cys737Arg NC_000010.11:99817421:T:C p.(Cys737Arg) NC_000010.11:99817421:T:C p.(Cys737Arg) NC_000010.11:99817421:T:C Identity +NM_015574.2:c.245C>T NP_056389.1:p.Pro82Leu NC_000004.12:73258423:G:A p.(Pro82Leu) NC_000004.12:73258423:G:A p.(Pro82Leu) NC_000004.12:73258423:G:A Identity +NM_001291845.2:c.488G>A NP_001278774.1:p.Arg163His NC_000007.14:50368332:G:A p.(Arg163His) NC_000007.14:50368332:G:A p.(Arg163His) NC_000007.14:50368332:G:A Identity +NM_001270521.2:c.3281dup NP_001257450.1:p.Asn1095fs NC_000006.12:131593122:AA:AAA p.(Asn1095GlnfsTer2) NC_000006.12:131593122:AA:AAA p.(Asn1095GlnfsTer2) ERR:SPDI Analogous +NM_006265.3:c.386T>C NP_006256.1:p.Val129Ala NC_000008.11:116858446:A:G p.(Val129Ala) NC_000008.11:116858446:A:G p.(Val129Ala) NC_000008.11:116858446:A:G Identity +NM_001029.5:c.331C>G NP_001020.2:p.Pro111Ala NC_000012.12:56044136:C:G p.(Pro111Ala) NC_000012.12:56044136:C:G p.(Pro111Ala) NC_000012.12:56044136:C:G Identity +NM_017514.5:c.4754T>C NP_059984.3:p.Met1585Thr NC_000023.11:154469742:T:C p.(Met1585Thr) NC_000023.11:154469742:T:C p.(Met1585Thr) NC_000023.11:154469742:T:C Identity +NM_001346810.2:c.2674G>C NP_001333739.1:p.Glu892Gln NC_000008.11:1678598:G:C p.(Glu892Gln) NC_000008.11:1678598:G:C p.(Glu892Gln) NC_000008.11:1678598:G:C Identity +NM_001081676.2:c.5044_5045delinsGA NP_001075145.1:p.Ile1682Asp NC_000002.12:165090960:AT:TC p.(Ile1682Asp) NC_000002.12:165090960:AT:TC p.(Ile1682Asp) NC_000002.12:165090960:AT:TC Identity +NM_000202.8:c.938G>A NP_000193.1:p.Arg313His NC_000023.11:149490381:C:T p.(Arg313His) NC_000023.11:149490381:C:T p.(Arg313His) NC_000023.11:149490381:C:T Identity +NM_016333.4:c.2002C>A NP_057417.3:p.Arg668Ser NC_000016.10:2762529:C:A p.(Arg668Ser) NC_000016.10:2762529:C:A p.(Arg668Ser) NC_000016.10:2762529:C:A Identity +NM_000088.4:c.2282G>A NP_000079.2:p.Gly761Asp NC_000017.11:50190877:C:T p.(Gly761Asp) NC_000017.11:50190877:C:T p.(Gly761Asp) NC_000017.11:50190877:C:T Identity +NM_001029882.3:c.3017A>G NP_001025053.1:p.Asn1006Ser NC_000001.11:27549098:T:C p.(Asn1006Ser) NC_000001.11:27549098:T:C p.(Asn1006Ser) NC_000001.11:27549098:T:C Identity +NM_001008389.3:c.1354G>A NP_001008390.1:p.Gly452Arg NC_000016.10:20341313:C:T p.(Gly452Arg) NC_000016.10:20341313:C:T p.(Gly452Arg) NC_000016.10:20341313:C:T Identity +NM_002769.5:c.2T>G NP_002760.1:p.Met1Arg NC_000007.14:142749485:T:G p.(Met1Arg) NC_000007.14:142749485:T:G p.Met1? NC_000007.14:142749485:T:G Identity +NM_001844.5:c.1987G>A NP_001835.3:p.Gly663Arg NC_000012.12:47983690:C:T p.(Gly663Arg) NC_000012.12:47983690:C:T p.(Gly663Arg) NC_000012.12:47983690:C:T Identity +NM_001257197.2:c.905_908del NP_001244126.1:p.Gln302fs NC_000002.12:224506055:GTTTGTTT:GTTT p.(Gln302LeufsTer28) NC_000002.12:224506055:GTTTGTTT:GTTT p.(Gln302LeufsTer28) NC_000002.12:224506055:GTTT: Analogous +NM_021072.4:c.2455G>A NP_066550.2:p.Val819Met NC_000005.10:45262138:C:T p.(Val819Met) NC_000005.10:45262138:C:T p.(Val819Met) NC_000005.10:45262138:C:T Identity +NM_015180.6:c.15382T>C NP_055995.4:p.Cys5128Arg NC_000014.9:64143846:T:C p.(Cys5128Arg) NC_000014.9:64143846:T:C p.(Cys5128Arg) NC_000014.9:64143846:T:C Identity +NM_005898.5:c.1432A>G NP_005889.3:p.Thr478Ala NC_000011.10:34090555:A:G p.(Thr478Ala) NC_000011.10:34090555:A:G p.(Thr478Ala) NC_000011.10:34090555:A:G Identity +NM_001413184.1:c.3699_3705del NP_001400113.1:p.Gln1233fs NC_000008.11:67227484:ATCCTTC: p.(Gln1233HisfsTer3) NC_000008.11:67227484:ATCCTTC: p.(Gln1233HisfsTer3) NC_000008.11:67227484:ATCCTTC: Analogous +NM_006517.5:c.162G>T NP_006508.2:p.Glu54Asp NC_000023.11:74421798:G:T p.(Glu54Asp) NC_000023.11:74421798:G:T p.(Glu54Asp) NC_000023.11:74421798:G:T Identity +NM_002386.4:c.372del NP_002377.4:p.Cys125fs NC_000016.10:89919628:CC:C p.(Cys125AlafsTer32) NC_000016.10:89919628:CC:C p.(Cys125AlafsTer32) NC_000016.10:89919629:C: Analogous +NM_001362843.2:c.901A>G NP_001349772.1:p.Asn301Asp NC_000022.11:41126034:A:G p.(Asn301Asp) NC_000022.11:41126034:A:G p.(Asn301Asp) NC_000022.11:41126034:A:G Identity +NM_001378183.1:c.4094A>T NP_001365112.1:p.Lys1365Met NC_000018.10:10752708:T:A p.(Lys1365Met) NC_000018.10:10752708:T:A p.(Lys1365Met) NC_000018.10:10752708:T:A Identity +NM_144508.5:c.3178A>G NP_653091.3:p.Ser1060Gly NC_000015.10:40623441:A:G p.(Ser1060Gly) NC_000015.10:40623441:A:G p.(Ser1060Gly) NC_000015.10:40623441:A:G Identity +NM_004259.7:c.1649G>A NP_004250.4:p.Arg550Gln NC_000017.11:75630687:C:T p.(Arg550Gln) NC_000017.11:75630687:C:T p.(Arg550Gln) NC_000017.11:75630687:C:T Identity +NM_000372.5:c.573del NP_000363.1:p.Ser192fs NC_000011.10:89178525:A: p.(Ser192LeufsTer34) NC_000011.10:89178525:A: p.(Ser192LeufsTer34) NC_000011.10:89178525:A: Analogous +NM_001306177.2:c.1732A>G NP_001293106.1:p.Asn578Asp NC_000023.11:136668165:T:C p.(Asn578Asp) NC_000023.11:136668165:T:C p.(Asn578Asp) NC_000023.11:136668165:T:C Identity +NM_003801.4:c.1573G>A NP_003792.1:p.Ala525Thr NC_000008.11:144085693:G:A p.(Ala525Thr) NC_000008.11:144085693:G:A p.(Ala525Thr) NC_000008.11:144085693:G:A Identity +NM_001004426.3:c.1684A>C NP_001004426.1:p.Asn562His NC_000022.11:38116107:T:G p.(Asn562His) NC_000022.11:38116107:T:G p.(Asn562His) NC_000022.11:38116107:T:G Identity +NM_018026.4:c.567G>C NP_060496.2:p.Lys189Asn NC_000011.10:66211165:G:C p.(Lys189Asn) NC_000011.10:66211165:G:C p.(Lys189Asn) NC_000011.10:66211165:G:C Identity +NM_000273.3:c.544T>G NP_000264.2:p.Ser182Ala NC_000023.11:9748577:A:C p.(Ser182Ala) NC_000023.11:9748577:A:C p.(Ser182Ala) NC_000023.11:9748577:A:C Identity +NM_001306129.2:c.4448_4449delinsGC NP_001293058.2:p.His1483Arg NC_000002.12:215386851:AT:GC p.(His1483Arg) NC_000002.12:215386851:AT:GC p.(His1483Arg) NC_000002.12:215386851:AT:GC Identity +NM_001033053.3:c.1823G>C NP_001028225.1:p.Gly608Ala NC_000017.11:5558872:C:G p.(Gly608Ala) NC_000017.11:5558872:C:G p.(Gly608Ala) NC_000017.11:5558872:C:G Identity +NM_001128310.3:c.625G>T NP_001121782.1:p.Gly209Cys NC_000004.12:87494174:C:A p.(Gly209Cys) NC_000004.12:87494174:C:A p.(Gly209Cys) NC_000004.12:87494174:C:A Identity +NM_001206955.2:c.2525G>C NP_001193884.1:p.Arg842Thr NC_000003.12:3042989:G:C p.(Arg842Thr) NC_000003.12:3042989:G:C p.(Arg842Thr) NC_000003.12:3042989:G:C Identity +NM_173569.4:c.1140C>A NP_775840.3:p.Asp380Glu NC_000007.14:139261485:C:A p.(Asp380Glu) NC_000007.14:139261485:C:A p.(Asp380Glu) NC_000007.14:139261485:C:A Identity +NM_017617.5:c.6538A>G NP_060087.3:p.Arg2180Gly NC_000009.12:136497200:T:C p.(Arg2180Gly) NC_000009.12:136497200:T:C p.(Arg2180Gly) NC_000009.12:136497200:T:C Identity +LRG_669t1:c.237A>T LRG_669p1:p.Glu79Asp NC_000019.10:53884194:A:T ERR:Data provider error: ValueError: Transcript LRG_669t1 not found ERR:Data provider error: ValueError: Transcript LRG_669t1 not found ERR:AlignmentMapper(tx_ac=LRG_669t1, alt_ac=LRG_669t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_669t1, alt_ac=LRG_669t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_669t1 not found +NM_020719.3:c.4066G>A NP_065770.1:p.Gly1356Arg NC_000019.10:49599658:G:A p.(Gly1356Arg) NC_000019.10:49599658:G:A p.(Gly1356Arg) NC_000019.10:49599658:G:A Identity +NM_006734.4:c.7270A>G NP_006725.3:p.Ser2424Gly NC_000006.12:142753177:T:C p.(Ser2424Gly) NC_000006.12:142753177:T:C p.(Ser2424Gly) NC_000006.12:142753177:T:C Identity +NM_001144964.1:c.67G>A NP_001138436.1:p.Gly23Arg NC_000018.10:58323250:G:A p.(Gly23Arg) NC_000018.10:58323250:G:A p.(Gly23Arg) NC_000018.10:58323250:G:A Identity +NM_000501.4:c.1697del NP_000492.2:p.Ala566fs NC_000007.14:74060450:C: p.(Ala566ValfsTer47) NC_000007.14:74060450:C: p.(Ala566ValfsTer47) NC_000007.14:74060450:C: Analogous +NM_001068.3:c.4481C>G NP_001059.2:p.Pro1494Arg NC_000003.12:25601218:G:C p.(Pro1494Arg) NC_000003.12:25601218:G:C p.(Pro1494Arg) NC_000003.12:25601218:G:C Identity +NM_001042355.2:c.2254C>T NP_001035814.1:p.Gln752Ter NC_000016.10:50792617:C:T p.(Gln752Ter) NC_000016.10:50792617:C:T p.(Gln752Ter) NC_000016.10:50792617:C:T Identity +NM_000334.4:c.724G>A NP_000325.4:p.Ala242Thr NC_000017.11:63968334:C:T p.(Ala242Thr) NC_000017.11:63968334:C:T p.(Ala242Thr) NC_000017.11:63968334:C:T Identity +NM_001410842.1:c.1004A>G NP_001397771.1:p.Asp335Gly NC_000004.12:139351600:A:G p.(Asp335Gly) NC_000004.12:139351600:A:G p.(Asp335Gly) NC_000004.12:139351600:A:G Identity +NM_001105077.4:c.3089T>G NP_001098547.3:p.Phe1030Cys NC_000003.12:169089126:A:C p.(Phe1030Cys) NC_000003.12:169089126:A:C p.(Phe1030Cys) NC_000003.12:169089126:A:C Identity +NM_004933.3:c.520G>T NP_004924.1:p.Ala174Ser NC_000016.10:89185189:G:T p.(Ala174Ser) NC_000016.10:89185189:G:T p.(Ala174Ser) NC_000016.10:89185189:G:T Identity +NM_001174116.3:c.869G>T NP_001167587.1:p.Ser290Ile NC_000015.10:51545643:C:A p.(Ser290Ile) NC_000015.10:51545643:C:A p.(Ser290Ile) NC_000015.10:51545643:C:A Identity +NM_004525.3:c.12426G>A NP_004516.2:p.Met4142Ile NC_000002.12:169152833:C:T p.(Met4142Ile) NC_000002.12:169152833:C:T p.(Met4142Ile) NC_000002.12:169152833:C:T Identity +NM_005245.4:c.9530T>G NP_005236.2:p.Leu3177Ter NC_000004.12:186611708:A:C p.(Leu3177Ter) NC_000004.12:186611708:A:C p.(Leu3177Ter) NC_000004.12:186611708:A:C Identity +NM_001003652.4:c.398G>A NP_001003652.1:p.Arg133His NC_000018.10:47869364:C:T p.(Arg133His) NC_000018.10:47869364:C:T p.(Arg133His) NC_000018.10:47869364:C:T Identity +NM_001287491.2:c.175A>G NP_001274420.1:p.Thr59Ala NC_000002.12:73986577:A:G p.(Thr59Ala) NC_000002.12:73986577:A:G p.(Thr59Ala) NC_000002.12:73986577:A:G Identity +NM_013245.3:c.401G>T NP_037377.1:p.Gly134Val NC_000016.10:69318879:G:T p.(Gly134Val) NC_000016.10:69318879:G:T p.(Gly134Val) NC_000016.10:69318879:G:T Identity +NM_001845.6:c.4348A>G NP_001836.3:p.Arg1450Gly NC_000013.11:110162343:T:C p.(Arg1450Gly) NC_000013.11:110162343:T:C p.(Arg1450Gly) NC_000013.11:110162343:T:C Identity +NM_004104.5:c.6861_6876del NP_004095.4:p.Tyr2288fs NC_000017.11:82080540:GCAGTCGATGTAGTAGGCAG:GCAG p.(Tyr2288SerfsTer63) NC_000017.11:82080540:GCAGTCGATGTAGTAGGCAG:GCAG p.(Tyr2288SerfsTer63) NC_000017.11:82080540:GCAGTCGATGTAGTAG: Analogous +NM_001190458.2:c.184C>G NP_001177387.1:p.Leu62Val NC_000009.12:289564:C:G p.(Leu62Val) NC_000009.12:289564:C:G p.(Leu62Val) NC_000009.12:289564:C:G Identity +NM_001194998.2:c.3022C>A NP_001181927.1:p.Leu1008Ile NC_000015.10:48756225:G:T p.(Leu1008Ile) NC_000015.10:48756225:G:T p.(Leu1008Ile) NC_000015.10:48756225:G:T Identity +NM_001127487.2:c.272A>G NP_001120959.1:p.Asn91Ser NC_000007.14:128830908:A:G p.(Asn91Ser) NC_000007.14:128830908:A:G p.(Asn91Ser) NC_000007.14:128830908:A:G Identity +NM_001025108.2:c.887A>C NP_001020279.1:p.Lys296Thr NC_000002.12:100006692:T:G p.(Lys296Thr) NC_000002.12:100006692:T:G p.(Lys296Thr) NC_000002.12:100006692:T:G Identity +NM_000834.5:c.1378T>G NP_000825.2:p.Phe460Val NC_000012.12:13615614:A:C p.(Phe460Val) NC_000012.12:13615614:A:C p.(Phe460Val) NC_000012.12:13615614:A:C Identity +NM_001999.4:c.1679G>A NP_001990.2:p.Cys560Tyr NC_000005.10:128378814:C:T p.(Cys560Tyr) NC_000005.10:128378814:C:T p.(Cys560Tyr) NC_000005.10:128378814:C:T Identity +NM_001024858.4:c.154C>G NP_001020029.1:p.Arg52Gly NC_000014.9:64805084:G:C p.(Arg52Gly) NC_000014.9:64805084:G:C p.(Arg52Gly) NC_000014.9:64805084:G:C Identity +NM_001007026.2:c.1256_1257del NP_001007027.1:p.Ser419fs NC_000012.12:6936518:CTCTCT:CTCT p.(Ser419CysfsTer104) NC_000012.12:6936518:CTCTCT:CTCT p.(Ser419CysfsTer104) NC_000012.12:6936522:CT: Analogous +NM_001371271.1:c.3295del NP_001358200.1:p.Leu1099fs NC_000002.12:120989208:C: p.(Leu1099TyrfsTer31) NC_000002.12:120989208:C: p.(Leu1099TyrfsTer31) NC_000002.12:120989208:C: Analogous +NM_000296.4:c.12896C>T NP_000287.4:p.Pro4299Leu NC_000016.10:2089739:G:A p.(Pro4299Leu) NC_000016.10:2089739:G:A p.(Pro4299Leu) NC_000016.10:2089739:G:A Identity +NM_001271.4:c.4966C>T NP_001262.3:p.Pro1656Ser NC_000015.10:93020070:C:T p.(Pro1656Ser) NC_000015.10:93020070:C:T p.(Pro1656Ser) NC_000015.10:93020070:C:T Identity +NM_001349370.3:c.2942G>A NP_001336299.1:p.Gly981Asp NC_000003.12:47121561:C:T p.(Gly981Asp) NC_000003.12:47121561:C:T p.(Gly981Asp) NC_000003.12:47121561:C:T Identity +NM_000089.4:c.4033G>A NP_000080.2:p.Ala1345Thr NC_000007.14:94430324:G:A p.(Ala1345Thr) NC_000007.14:94430324:G:A p.(Ala1345Thr) NC_000007.14:94430324:G:A Identity +NM_001330311.2:c.1467C>G NP_001317240.1:p.Phe489Leu NC_000001.11:1338308:G:C p.(Phe489Leu) NC_000001.11:1338308:G:C p.(Phe489Leu) NC_000001.11:1338308:G:C Identity +NM_001379141.1:c.4081A>G NP_001366070.1:p.Arg1361Gly NC_000018.10:45038564:A:G p.(Arg1361Gly) NC_000018.10:45038564:A:G p.(Arg1361Gly) NC_000018.10:45038564:A:G Identity +NM_138694.4:c.1492del NP_619639.3:p.Gln498fs NC_000006.12:52058342:GGG:GG p.(Gln498ArgfsTer9) NC_000006.12:52058342:GGG:GG p.(Gln498ArgfsTer9) NC_000006.12:52058342:G: Analogous +NM_001036.6:c.10304T>A NP_001027.3:p.Val3435Asp NC_000015.10:33812908:T:A p.(Val3435Asp) NC_000015.10:33812908:T:A p.(Val3435Asp) NC_000015.10:33812908:T:A Identity +NM_001320613.2:c.754C>T NP_001307542.1:p.Arg252Cys NC_000002.12:24872640:G:A p.(Arg252Cys) NC_000002.12:24872640:G:A p.(Arg252Cys) NC_000002.12:24872640:G:A Identity +NM_001416022.1:c.43C>G NP_001402951.1:p.Leu15Val NC_000008.11:91070426:C:G p.(Leu15Val) NC_000008.11:91070426:C:G p.(Leu15Val) NC_000008.11:91070426:C:G Identity +NM_001371271.1:c.571G>A NP_001358200.1:p.Gly191Arg NC_000002.12:120955357:G:A p.(Gly191Arg) NC_000002.12:120955357:G:A p.(Gly191Arg) NC_000002.12:120955357:G:A Identity +NM_005560.6:c.2323C>T NP_005551.3:p.Arg775Cys NC_000020.11:62336339:G:A p.(Arg775Cys) NC_000020.11:62336339:G:A p.(Arg775Cys) NC_000020.11:62336339:G:A Identity +NM_001315529.2:c.6499G>A NP_001302458.1:p.Ala2167Thr NC_000021.9:46416770:G:A p.(Ala2167Thr) NC_000021.9:46416770:G:A p.(Ala2167Thr) NC_000021.9:46416770:G:A Identity +NM_000264.5:c.883C>T NP_000255.2:p.Pro295Ser NC_000009.12:95480451:G:A p.(Pro295Ser) NC_000009.12:95480451:G:A p.(Pro295Ser) NC_000009.12:95480451:G:A Identity +NM_020745.4:c.914_917del NP_065796.2:p.Tyr305fs NC_000006.12:44307371:AAGTAAG:AAG p.(Tyr305TrpfsTer4) NC_000006.12:44307371:AAGTAAG:AAG p.(Tyr305TrpfsTer4) NC_000006.12:44307371:AAGT: Analogous +NM_030773.4:c.844C>T NP_110400.1:p.Arg282Ter NC_000020.11:59024270:C:T p.(Arg282Ter) NC_000020.11:59024270:C:T p.(Arg282Ter) NC_000020.11:59024270:C:T Identity +NM_000296.4:c.3725C>T NP_000287.4:p.Thr1242Met NC_000016.10:2111441:G:A p.(Thr1242Met) NC_000016.10:2111441:G:A p.(Thr1242Met) NC_000016.10:2111441:G:A Identity +NM_001348181.2:c.401A>G NP_001335110.1:p.Asn134Ser NC_000002.12:24310601:T:C p.(Asn134Ser) NC_000002.12:24310601:T:C p.(Asn134Ser) NC_000002.12:24310601:T:C Identity +NM_001289135.3:c.486G>C NP_001276064.1:p.Gln162His NC_000004.12:20480733:G:C p.(Gln162His) NC_000004.12:20480733:G:C p.(Gln162His) NC_000004.12:20480733:G:C Identity +NM_000273.3:c.17T>G NP_000264.2:p.Leu6Arg NC_000023.11:9765800:A:C p.(Leu6Arg) NC_000023.11:9765800:A:C p.(Leu6Arg) NC_000023.11:9765800:A:C Identity +NM_015512.5:c.6313C>G NP_056327.4:p.Pro2105Ala NC_000003.12:52370530:C:G p.(Pro2105Ala) NC_000003.12:52370530:C:G p.(Pro2105Ala) NC_000003.12:52370530:C:G Identity +NM_001242581.2:c.253G>A NP_001229510.1:p.Val85Met NC_000020.11:19935146:G:A p.(Val85Met) NC_000020.11:19935146:G:A p.(Val85Met) NC_000020.11:19935146:G:A Identity +NM_001375567.1:c.3512C>T NP_001362496.1:p.Ala1171Val NC_000009.12:20944730:C:T p.(Ala1171Val) NC_000009.12:20944730:C:T p.(Ala1171Val) NC_000009.12:20944730:C:T Identity +NM_015335.5:c.5614C>T NP_056150.1:p.Arg1872Cys NC_000012.12:115975287:G:A p.(Arg1872Cys) NC_000012.12:115975287:G:A p.(Arg1872Cys) NC_000012.12:115975287:G:A Identity +NM_014727.3:c.2534A>C NP_055542.1:p.Glu845Ala NC_000019.10:35722434:A:C p.(Glu845Ala) NC_000019.10:35722434:A:C p.(Glu845Ala) NC_000019.10:35722434:A:C Identity +NM_001111018.2:c.4550A>G NP_001104488.1:p.Asp1517Gly NC_000011.10:20055867:A:G p.(Asp1517Gly) NC_000011.10:20055867:A:G p.(Asp1517Gly) NC_000011.10:20055867:A:G Identity +NM_000111.3:c.1190T>G NP_000102.1:p.Leu397Arg NC_000007.14:107783022:A:C p.(Leu397Arg) NC_000007.14:107783022:A:C p.(Leu397Arg) NC_000007.14:107783022:A:C Identity +LRG_1021t1:c.599G>A LRG_1021p1:p.Arg200His NC_000004.12:1801519:G:A ERR:Data provider error: ValueError: Transcript LRG_1021t1 not found ERR:Data provider error: ValueError: Transcript LRG_1021t1 not found ERR:AlignmentMapper(tx_ac=LRG_1021t1, alt_ac=LRG_1021t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1021t1, alt_ac=LRG_1021t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1021t1 not found +NM_001003679.3:c.977G>A NP_001003679.1:p.Arg326His NC_000001.11:65598786:G:A p.(Arg326His) NC_000001.11:65598786:G:A p.(Arg326His) NC_000001.11:65598786:G:A Identity +NM_001410754.1:c.109G>C NP_001397683.1:p.Gly37Arg NC_000005.10:93588011:G:C p.(Gly37Arg) NC_000005.10:93588011:G:C p.(Gly37Arg) NC_000005.10:93588011:G:C Identity +NM_001199427.2:c.481G>T NP_001186356.1:p.Asp161Tyr NC_000014.9:102876435:G:T p.(Asp161Tyr) NC_000014.9:102876435:G:T p.(Asp161Tyr) NC_000014.9:102876435:G:T Identity +NM_001143805.1:c.92G>A NP_001137277.1:p.Gly31Asp NC_000011.10:27658472:C:T p.(Gly31Asp) NC_000011.10:27658472:C:T p.(Gly31Asp) NC_000011.10:27658472:C:T Identity +NM_000297.4:c.532C>T NP_000288.1:p.Leu178Phe NC_000004.12:88008264:C:T p.(Leu178Phe) NC_000004.12:88008264:C:T p.(Leu178Phe) NC_000004.12:88008264:C:T Identity +NM_014967.5:c.2906G>T NP_055782.3:p.Arg969Leu NC_000015.10:30930660:G:T p.(Arg969Leu) NC_000015.10:30930660:G:T p.(Arg969Leu) NC_000015.10:30930660:G:T Identity +NM_000384.3:c.8757A>G NP_000375.3:p.Ile2919Met NC_000002.12:21008110:T:C p.(Ile2919Met) NC_000002.12:21008110:T:C p.(Ile2919Met) NC_000002.12:21008110:T:C Identity +NM_058174.3:c.2474C>G NP_478054.2:p.Pro825Arg NC_000021.9:46129207:C:G p.(Pro825Arg) NC_000021.9:46129207:C:G p.(Pro825Arg) NC_000021.9:46129207:C:G Identity +NM_000552.5:c.5600T>C NP_000543.3:p.Phe1867Ser NC_000012.12:6013500:A:G p.(Phe1867Ser) NC_000012.12:6013500:A:G p.(Phe1867Ser) NC_000012.12:6013500:A:G Identity +NM_001115113.3:c.856C>T NP_001108585.2:p.Gln286Ter NC_000001.11:224418374:G:A p.(Gln286Ter) NC_000001.11:224418374:G:A p.(Gln286Ter) NC_000001.11:224418374:G:A Identity +NM_002439.5:c.221A>G NP_002430.3:p.Gln74Arg NC_000005.10:80654947:A:G p.(Gln74Arg) NC_000005.10:80654947:A:G p.(Gln74Arg) NC_000005.10:80654947:A:G Identity +NM_017514.5:c.827T>C NP_059984.3:p.Val276Ala NC_000023.11:154461330:T:C p.(Val276Ala) NC_000023.11:154461330:T:C p.(Val276Ala) NC_000023.11:154461330:T:C Identity +NM_001284214.2:c.4841T>C NP_001271143.1:p.Leu1614Pro NC_000002.12:229787577:A:G p.(Leu1614Pro) NC_000002.12:229787577:A:G p.(Leu1614Pro) NC_000002.12:229787577:A:G Identity +NM_001136195.2:c.1541C>T NP_001129667.1:p.Pro514Leu NC_000019.10:12706322:G:A p.(Pro514Leu) NC_000019.10:12706322:G:A p.(Pro514Leu) NC_000019.10:12706322:G:A Identity +NM_018398.3:c.2812C>T NP_060868.2:p.Leu938Phe NC_000003.12:55007834:C:T p.(Leu938Phe) NC_000003.12:55007834:C:T p.(Leu938Phe) NC_000003.12:55007834:C:T Identity +NM_017802.4:c.2450del NP_060272.3:p.Ser817fs NC_000007.14:785534:G: p.(Ser817ThrfsTer9) NC_000007.14:785534:G: p.(Ser817ThrfsTer9) NC_000007.14:785534:G: Analogous +NM_001204136.2:c.944A>C NP_001191065.1:p.Glu315Ala NC_000018.10:50275010:T:G p.(Glu315Ala) NC_000018.10:50275010:T:G p.(Glu315Ala) NC_000018.10:50275010:T:G Identity +NM_000168.6:c.1448_1463dup NP_000159.3:p.Arg489fs NC_000007.14:42023501:GCGCAGCCTTCCCAGTG:GCGCAGCCTTCCCAGTGCGCAGCCTTCCCAGTG p.(Arg489LeufsTer20) NC_000007.14:42023501:GCGCAGCCTTCCCAGTG:GCGCAGCCTTCCCAGTGCGCAGCCTTCCCAGTG p.(Arg489LeufsTer20) ERR:SPDI Analogous +NM_001127610.2:c.601C>T NP_001121082.1:p.Arg201Cys NC_000009.12:101368187:G:A p.(Arg201Cys) NC_000009.12:101368187:G:A p.(Arg201Cys) NC_000009.12:101368187:G:A Identity +NM_001178129.2:c.1383G>A NP_001171600.1:p.Met461Ile NC_000007.14:83392658:C:T p.(Met461Ile) NC_000007.14:83392658:C:T p.(Met461Ile) NC_000007.14:83392658:C:T Identity +NM_020163.3:c.1175G>A NP_064548.1:p.Arg392Gln NC_000003.12:52440066:C:T p.(Arg392Gln) NC_000003.12:52440066:C:T p.(Arg392Gln) NC_000003.12:52440066:C:T Identity +NM_001393897.1:c.3727G>A NP_001380826.1:p.Ala1243Thr NC_000007.14:132179833:C:T p.(Ala1243Thr) NC_000007.14:132179833:C:T p.(Ala1243Thr) NC_000007.14:132179833:C:T Identity +NM_000540.3:c.12700G>A NP_000531.2:p.Val4234Met NC_000019.10:38565033:G:A p.(Val4234Met) NC_000019.10:38565033:G:A p.(Val4234Met) NC_000019.10:38565033:G:A Identity +NM_002292.4:c.4907_4908del NP_002283.3:p.Glu1636fs NC_000003.12:49121958:CTCT:CT p.(Glu1636AlafsTer22) NC_000003.12:49121958:CTCT:CT p.(Glu1636AlafsTer22) NC_000003.12:49121958:CT: Analogous +NM_001164144.3:c.1777G>A NP_001157616.1:p.Asp593Asn NC_000013.11:114325618:G:A p.(Asp593Asn) NC_000013.11:114325618:G:A p.(Asp593Asn) NC_000013.11:114325618:G:A Identity +NM_001320893.1:c.2T>A NP_001307822.1:p.Met1Lys NC_000002.12:25252092:A:T p.(Met1Lys) NC_000002.12:25252092:A:T p.Met1? NC_000002.12:25252092:A:T Identity +NM_152701.5:c.7937A>C NP_689914.3:p.Lys2646Thr NC_000007.14:48279130:A:C p.(Lys2646Thr) NC_000007.14:48279130:A:C p.(Lys2646Thr) NC_000007.14:48279130:A:C Identity +NM_001142966.3:c.5030C>A NP_001136438.1:p.Thr1677Asn NC_000018.10:21515544:C:A p.(Thr1677Asn) NC_000018.10:21515544:C:A p.(Thr1677Asn) NC_000018.10:21515544:C:A Identity +NM_005862.3:c.1717A>G NP_005853.2:p.Ile573Val NC_000003.12:136422977:T:C p.(Ile573Val) NC_000003.12:136422977:T:C p.(Ile573Val) NC_000003.12:136422977:T:C Identity +NM_173598.6:c.554C>T NP_775869.4:p.Pro185Leu NC_000012.12:117761442:G:A p.(Pro185Leu) NC_000012.12:117761442:G:A p.(Pro185Leu) NC_000012.12:117761442:G:A Identity +NM_001321924.2:c.1A>G NP_001308853.1:p.Met1Val NC_000015.10:64400814:A:G p.(Met1Val) NC_000015.10:64400814:A:G p.Met1? NC_000015.10:64400814:A:G Identity +NM_005523.6:c.169G>A NP_005514.1:p.Val57Met NC_000007.14:27184975:C:T p.(Val57Met) NC_000007.14:27184975:C:T p.(Val57Met) NC_000007.14:27184975:C:T Identity +NM_001300899.2:c.2135A>G NP_001287828.1:p.His712Arg NC_000006.12:75879876:A:G p.(His712Arg) NC_000006.12:75879876:A:G p.(His712Arg) NC_000006.12:75879876:A:G Identity +NM_002775.5:c.691G>A NP_002766.1:p.Glu231Lys NC_000010.11:122489539:G:A p.(Glu231Lys) NC_000010.11:122489539:G:A p.(Glu231Lys) NC_000010.11:122489539:G:A Identity +NM_001174069.2:c.938G>A NP_001167540.1:p.Arg313Gln NC_000001.11:165205913:C:T p.(Arg313Gln) NC_000001.11:165205913:C:T p.(Arg313Gln) NC_000001.11:165205913:C:T Identity +NM_001844.5:c.199A>T NP_001835.3:p.Ile67Leu NC_000012.12:48000011:T:A p.(Ile67Leu) NC_000012.12:48000011:T:A p.(Ile67Leu) NC_000012.12:48000011:T:A Identity +NM_000495.5:c.1717G>A NP_000486.1:p.Gly573Ser NC_000023.11:108597505:G:A p.(Gly573Ser) NC_000023.11:108597505:G:A p.(Gly573Ser) NC_000023.11:108597505:G:A Identity +NM_000296.4:c.8929A>G NP_000287.4:p.Thr2977Ala NC_000016.10:2102832:T:C p.(Thr2977Ala) NC_000016.10:2102832:T:C p.(Thr2977Ala) NC_000016.10:2102832:T:C Identity +NM_000868.4:c.172C>T NP_000859.2:p.Leu58Phe NC_000023.11:114731429:C:T p.(Leu58Phe) NC_000023.11:114731429:C:T p.(Leu58Phe) NC_000023.11:114731429:C:T Identity +NM_001386500.1:c.1372A>G NP_001373429.1:p.Ile458Val NC_000001.11:11243153:T:C p.(Ile458Val) NC_000001.11:11243153:T:C p.(Ile458Val) NC_000001.11:11243153:T:C Identity +NM_001393897.1:c.2624A>G NP_001380826.1:p.Lys875Arg NC_000007.14:132198598:T:C p.(Lys875Arg) NC_000007.14:132198598:T:C p.(Lys875Arg) NC_000007.14:132198598:T:C Identity +NM_019066.5:c.875C>T NP_061939.3:p.Pro292Leu NC_000015.10:23646867:G:A p.(Pro292Leu) NC_000015.10:23646867:G:A p.(Pro292Leu) NC_000015.10:23646867:G:A Identity +NM_020759.3:c.10315G>A NP_065810.2:p.Glu3439Lys NC_000015.10:42691892:G:A p.(Glu3439Lys) NC_000015.10:42691892:G:A p.(Glu3439Lys) NC_000015.10:42691892:G:A Identity +NM_001386500.1:c.1474G>T NP_001373429.1:p.Ala492Ser NC_000001.11:11241619:C:A p.(Ala492Ser) NC_000001.11:11241619:C:A p.(Ala492Ser) NC_000001.11:11241619:C:A Identity +NM_014712.3:c.1961del NP_055527.1:p.Pro654fs NC_000016.10:30965837:CCCCC:CCCC p.(Pro654ArgfsTer7) NC_000016.10:30965837:CCCCC:CCCC p.(Pro654ArgfsTer7) NC_000016.10:30965841:C: Analogous +NM_015057.5:c.9679A>G NP_055872.4:p.Met3227Val NC_000013.11:77097474:T:C p.(Met3227Val) NC_000013.11:77097474:T:C p.(Met3227Val) NC_000013.11:77097474:T:C Identity +NM_032242.4:c.86G>C NP_115618.3:p.Gly29Ala NC_000003.12:126988678:G:C p.(Gly29Ala) NC_000003.12:126988678:G:C p.(Gly29Ala) NC_000003.12:126988678:G:C Identity +NM_001143805.1:c.691A>G NP_001137277.1:p.Ile231Val NC_000011.10:27657873:T:C p.(Ile231Val) NC_000011.10:27657873:T:C p.(Ile231Val) NC_000011.10:27657873:T:C Identity +NM_020928.2:c.655G>A NP_065979.1:p.Val219Ile NC_000005.10:61332926:G:A p.(Val219Ile) NC_000005.10:61332926:G:A p.(Val219Ile) NC_000005.10:61332926:G:A Identity +NM_033071.5:c.15601C>T NP_149062.2:p.Arg5201Trp NC_000006.12:152323580:G:A p.(Arg5201Trp) NC_000006.12:152323580:G:A p.(Arg5201Trp) NC_000006.12:152323580:G:A Identity +NM_001278192.2:c.2208C>G NP_001265121.1:p.Ile736Met NC_000011.10:62626597:G:C p.(Ile736Met) NC_000011.10:62626597:G:C p.(Ile736Met) NC_000011.10:62626597:G:C Identity +NM_001080517.3:c.257G>A NP_001073986.1:p.Gly86Glu NC_000003.12:9434412:G:A p.(Gly86Glu) NC_000003.12:9434412:G:A p.(Gly86Glu) NC_000003.12:9434412:G:A Identity +NM_001315529.2:c.3548A>G NP_001302458.1:p.Glu1183Gly NC_000021.9:46390730:A:G p.(Glu1183Gly) NC_000021.9:46390730:A:G p.(Glu1183Gly) NC_000021.9:46390730:A:G Identity +NM_000548.5:c.2468T>A NP_000539.2:p.Leu823Gln NC_000016.10:2074311:T:A p.(Leu823Gln) NC_000016.10:2074311:T:A p.(Leu823Gln) NC_000016.10:2074311:T:A Identity +NM_001424113.1:c.5266C>T NP_001411042.1:p.Pro1756Ser NC_000006.12:75137564:G:A p.(Pro1756Ser) NC_000006.12:75137564:G:A p.(Pro1756Ser) NC_000006.12:75137564:G:A Identity +NM_001172303.3:c.1292G>C NP_001165774.1:p.Gly431Ala NC_000010.11:27170250:G:C p.(Gly431Ala) NC_000010.11:27170250:G:C p.(Gly431Ala) NC_000010.11:27170250:G:C Identity +NM_001293228.2:c.302dup NP_001280157.1:p.Leu102fs NC_000002.12:15942360:GGGGGG:GGGGGGG p.(Leu102ThrfsTer164) NC_000002.12:15942360:GGGGGG:GGGGGGG p.(Leu102ThrfsTer164) ERR:SPDI Analogous +NM_017780.4:c.5287G>A NP_060250.2:p.Gly1763Ser NC_000008.11:60848590:G:A p.(Gly1763Ser) NC_000008.11:60848590:G:A p.(Gly1763Ser) NC_000008.11:60848590:G:A Identity +NM_001256630.1:c.19C>T NP_001243559.1:p.Pro7Ser NC_000011.10:1411422:C:T p.(Pro7Ser) NC_000011.10:1411422:C:T p.(Pro7Ser) NC_000011.10:1411422:C:T Identity +NM_001142864.4:c.7261G>A NP_001136336.2:p.Val2421Ile NC_000016.10:88715987:C:T p.(Val2421Ile) NC_000016.10:88715987:C:T p.(Val2421Ile) NC_000016.10:88715987:C:T Identity +NM_138694.4:c.10316_10318del NP_619639.3:p.Asp3439del NC_000006.12:51659807:CATCA:CA p.(Asp3439del) NC_000006.12:51659807:CATCA:CA p.(Asp3439del) NC_000006.12:51659807:CAT: Identity +NM_015335.5:c.1280G>A NP_056150.1:p.Arg427Lys NC_000012.12:116012796:C:T p.(Arg427Lys) NC_000012.12:116012796:C:T p.(Arg427Lys) NC_000012.12:116012796:C:T Identity +NM_001164271.2:c.229C>T NP_001157743.1:p.Arg77Cys NC_000008.11:13100574:G:A p.(Arg77Cys) NC_000008.11:13100574:G:A p.(Arg77Cys) NC_000008.11:13100574:G:A Identity +NM_001350248.2:c.521G>A NP_001337177.1:p.Arg174Lys NC_000001.11:243286371:G:A p.(Arg174Lys) NC_000001.11:243286371:G:A p.(Arg174Lys) NC_000001.11:243286371:G:A Identity +NM_001025107.3:c.2263G>A NP_001020278.1:p.Gly755Arg NC_000001.11:154586234:C:T p.(Gly755Arg) NC_000001.11:154586234:C:T p.(Gly755Arg) NC_000001.11:154586234:C:T Identity +NM_000501.4:c.1192G>C NP_000492.2:p.Gly398Arg NC_000007.14:74056311:G:C p.(Gly398Arg) NC_000007.14:74056311:G:C p.(Gly398Arg) NC_000007.14:74056311:G:C Identity +NM_001322194.2:c.2768G>A NP_001309123.1:p.Arg923His NC_000009.12:5090451:G:A p.(Arg923His) NC_000009.12:5090451:G:A p.(Arg923His) NC_000009.12:5090451:G:A Identity +NM_001394011.1:c.37G>A NP_001380940.1:p.Val13Ile NC_000019.10:5286103:C:T p.(Val13Ile) NC_000019.10:5286103:C:T p.(Val13Ile) NC_000019.10:5286103:C:T Identity +NM_000501.4:c.2070dup NP_000492.2:p.Gln691fs NC_000007.14:74065978:GGG:GGGG p.(Gln691AlafsTer57) NC_000007.14:74065978:GGG:GGGG p.(Gln691AlafsTer57) ERR:SPDI Analogous +NM_015202.5:c.2444G>A NP_056017.4:p.Gly815Glu NC_000016.10:27740740:G:A p.(Gly815Glu) NC_000016.10:27740740:G:A p.(Gly815Glu) NC_000016.10:27740740:G:A Identity +NM_001354989.2:c.3019dup NP_001341918.1:p.Ser1007fs NC_000005.10:180616976:T:TT p.(Ser1007LysfsTer49) NC_000005.10:180616976:T:TT p.(Ser1007LysfsTer49) ERR:SPDI Analogous +NM_001042544.1:c.4056G>C NP_001036009.1:p.Trp1352Cys NC_000019.10:40625878:G:C p.(Trp1352Cys) NC_000019.10:40625878:G:C p.(Trp1352Cys) NC_000019.10:40625878:G:C Identity +NM_001353345.2:c.24C>G NP_001340274.1:p.His8Gln NC_000012.12:121804760:C:G p.(His8Gln) NC_000012.12:121804760:C:G p.(His8Gln) NC_000012.12:121804760:C:G Identity +NM_001162501.2:c.3564A>C NP_001155973.1:p.Gln1188His NC_000022.11:40281270:A:C p.(Gln1188His) NC_000022.11:40281270:A:C p.(Gln1188His) NC_000022.11:40281270:A:C Identity +NM_003482.4:c.3344T>C NP_003473.3:p.Phe1115Ser NC_000012.12:49050243:A:G p.(Phe1115Ser) NC_000012.12:49050243:A:G p.(Phe1115Ser) NC_000012.12:49050243:A:G Identity +NM_005172.2:c.756dup NP_005163.1:p.Ala253fs NC_000004.12:93829680:CC:CCC p.(Ala253ArgfsTer97) NC_000004.12:93829680:CC:CCC p.(Ala253ArgfsTer97) ERR:SPDI Analogous +NM_001017423.2:c.1750A>C NP_001017423.1:p.Met584Leu NC_000010.11:95614010:T:G p.(Met584Leu) NC_000010.11:95614010:T:G p.(Met584Leu) NC_000010.11:95614010:T:G Identity +NM_001100412.2:c.835C>T NP_001093882.1:p.Arg279Cys NC_000005.10:31526097:G:A p.(Arg279Cys) NC_000005.10:31526097:G:A p.(Arg279Cys) NC_000005.10:31526097:G:A Identity +NM_032242.4:c.542G>A NP_115618.3:p.Gly181Asp NC_000003.12:126989134:G:A p.(Gly181Asp) NC_000003.12:126989134:G:A p.(Gly181Asp) NC_000003.12:126989134:G:A Identity +NM_001114978.2:c.944G>A NP_001108450.1:p.Gly315Glu NC_000003.12:189867893:G:A p.(Gly315Glu) NC_000003.12:189867893:G:A p.(Gly315Glu) NC_000003.12:189867893:G:A Identity +NM_003049.4:c.4G>T NP_003040.1:p.Glu2Ter NC_000014.9:69797151:C:A p.(Glu2Ter) NC_000014.9:69797151:C:A p.(Glu2Ter) NC_000014.9:69797151:C:A Identity +NM_001079802.2:c.665T>A NP_001073270.1:p.Val222Asp NC_000009.12:105607835:T:A p.(Val222Asp) NC_000009.12:105607835:T:A p.(Val222Asp) NC_000009.12:105607835:T:A Identity +NM_001354609.2:c.1189G>A NP_001341538.1:p.Gly397Ser NC_000007.14:140783145:C:T p.(Gly397Ser) NC_000007.14:140783145:C:T p.(Gly397Ser) NC_000007.14:140783145:C:T Identity +NM_001407805.1:c.2565G>T NP_001394734.1:p.Glu855Asp NC_000019.10:621132:C:A p.(Glu855Asp) NC_000019.10:621132:C:A p.(Glu855Asp) NC_000019.10:621132:C:A Identity +NM_001202543.2:c.494A>C NP_001189472.1:p.Lys165Thr NC_000007.14:102104389:A:C p.(Lys165Thr) NC_000007.14:102104389:A:C p.(Lys165Thr) NC_000007.14:102104389:A:C Identity +NM_001193307.2:c.2455_2456delinsTT NP_001180236.1:p.Ala819Phe NC_000007.14:93103641:GC:AA p.(Ala819Phe) NC_000007.14:93103641:GC:AA p.(Ala819Phe) NC_000007.14:93103641:GC:AA Identity +NM_005245.4:c.9091A>G NP_005236.2:p.Thr3031Ala NC_000004.12:186614328:T:C p.(Thr3031Ala) NC_000004.12:186614328:T:C p.(Thr3031Ala) NC_000004.12:186614328:T:C Identity +NM_001354989.2:c.3079T>C NP_001341918.1:p.Phe1027Leu NC_000005.10:180616916:A:G p.(Phe1027Leu) NC_000005.10:180616916:A:G p.(Phe1027Leu) NC_000005.10:180616916:A:G Identity +NM_000203.5:c.239T>C NP_000194.2:p.Val80Ala NC_000004.12:987888:T:C p.(Val80Ala) NC_000004.12:987888:T:C p.(Val80Ala) NC_000004.12:987888:T:C Identity +NM_001145293.2:c.-17_12del NP_001138765.1:p.Met1fs NC_000003.12:25783378:CGCCGCCGCCATGCTTGAGCGCCAGCGGGCGCCGCCGCC:CGCCGCCGCC p.(Met1ArgfsTer9) NC_000003.12:25783378:CGCCGCCGCCATGCTTGAGCGCCAGCGGGCGCCGCCGCC:CGCCGCCGCC p.Met1? NC_000003.12:25783378:CGCCGCCGCCATGCTTGAGCGCCAGCGGG: Analogous +NM_001330311.2:c.1876C>T NP_001317240.1:p.Arg626Cys NC_000001.11:1336353:G:A p.(Arg626Cys) NC_000001.11:1336353:G:A p.(Arg626Cys) NC_000001.11:1336353:G:A Identity +NM_015384.5:c.2656C>T NP_056199.2:p.Gln886Ter NC_000005.10:36985835:C:T p.(Gln886Ter) NC_000005.10:36985835:C:T p.(Gln886Ter) NC_000005.10:36985835:C:T Identity +NM_001411020.1:c.523A>G NP_001397949.1:p.Met175Val NC_000014.9:50188687:T:C p.(Met175Val) NC_000014.9:50188687:T:C p.(Met175Val) NC_000014.9:50188687:T:C Identity +NM_001290321.3:c.4377A>C NP_001277250.1:p.Leu1459Phe NC_000005.10:119150203:A:C p.(Leu1459Phe) NC_000005.10:119150203:A:C p.(Leu1459Phe) NC_000005.10:119150203:A:C Identity +NM_020338.4:c.2568del NP_065071.1:p.Asn857fs NC_000010.11:79306241:CCC:CC p.(Asn857MetfsTer5) NC_000010.11:79306241:CCC:CC p.(Asn857MetfsTer5) NC_000010.11:79306243:C: Analogous +NM_015560.3:c.288A>T NP_056375.2:p.Arg96Ser NC_000003.12:193614977:A:T p.(Arg96Ser) NC_000003.12:193614977:A:T p.(Arg96Ser) NC_000003.12:193614977:A:T Identity +NM_001195001.2:c.1898G>A NP_001181930.1:p.Arg633Gln NC_000001.11:29282704:G:A p.(Arg633Gln) NC_000001.11:29282704:G:A p.(Arg633Gln) NC_000001.11:29282704:G:A Identity +NM_001167965.1:c.840G>A NP_001161437.1:p.Met280Ile NC_000001.11:43185226:G:A p.(Met280Ile) NC_000001.11:43185226:G:A p.(Met280Ile) NC_000001.11:43185226:G:A Identity +NM_001204269.2:c.512T>C NP_001191198.1:p.Met171Thr NC_000001.11:110604270:A:G p.(Met171Thr) NC_000001.11:110604270:A:G p.(Met171Thr) NC_000001.11:110604270:A:G Identity +NM_002016.2:c.8656C>T NP_002007.1:p.Arg2886Cys NC_000001.11:152306229:G:A p.(Arg2886Cys) NC_000001.11:152306229:G:A p.(Arg2886Cys) NC_000001.11:152306229:G:A Identity +NM_001366177.2:c.8429C>T NP_001353106.1:p.Ala2810Val NC_000001.11:155341981:G:A p.(Ala2810Val) NC_000001.11:155341981:G:A p.(Ala2810Val) NC_000001.11:155341981:G:A Identity +NM_003872.3:c.85G>A NP_003863.2:p.Gly29Arg NC_000002.12:205697554:G:A p.(Gly29Arg) NC_000002.12:205697554:G:A p.(Gly29Arg) NC_000002.12:205697554:G:A Identity +NM_001363711.2:c.3076C>T NP_001350640.1:p.Gln1026Ter NC_000015.10:45100157:G:A p.(Gln1026Ter) NC_000015.10:45100157:G:A p.(Gln1026Ter) NC_000015.10:45100157:G:A Identity +NM_000053.4:c.447_452delinsC NP_000044.2:p.Glu150fs NC_000013.11:51974767:CCCTCC:G p.(Glu150HisfsTer11) NC_000013.11:51974767:CCCTCC:G p.(Glu150HisfsTer11) NC_000013.11:51974767:CCCTCC:G Analogous +NM_000138.5:c.3726T>G NP_000129.3:p.Cys1242Trp NC_000015.10:48483929:A:C p.(Cys1242Trp) NC_000015.10:48483929:A:C p.(Cys1242Trp) NC_000015.10:48483929:A:C Identity +NM_001136127.3:c.956C>A NP_001129599.1:p.Pro319Gln NC_000001.11:172038424:C:A p.(Pro319Gln) NC_000001.11:172038424:C:A p.(Pro319Gln) NC_000001.11:172038424:C:A Identity +NM_001098623.2:c.20790G>C NP_001092093.2:p.Arg6930Ser NC_000001.11:228371567:G:C p.(Arg6930Ser) NC_000001.11:228371567:G:C p.(Arg6930Ser) NC_000001.11:228371567:G:C Identity +NM_001143996.2:c.2723G>A NP_001137468.1:p.Arg908His NC_000010.11:49736037:C:T p.(Arg908His) NC_000010.11:49736037:C:T p.(Arg908His) NC_000010.11:49736037:C:T Identity +NM_001256850.1:c.90115A>G NP_001243779.1:p.Arg30039Gly NC_000002.12:178546292:T:C p.(Arg30039Gly) NC_000002.12:178546292:T:C p.(Arg30039Gly) NC_000002.12:178546292:T:C Identity +NM_001346813.1:c.239C>A NP_001333742.1:p.Pro80His NC_000006.12:156778167:C:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001024858.4:c.5853_5854del NP_001020029.1:p.Glu1951fs NC_000014.9:64769672:TCTCT:TCT p.(Glu1951AspfsTer2) NC_000014.9:64769672:TCTCT:TCT p.(Glu1951AspfsTer2) NC_000014.9:64769672:TC: Analogous +NM_004646.4:c.2608_2609dup NP_004637.1:p.Asn870fs NC_000019.10:35842177:TT:TTTT p.(Asn870LysfsTer36) NC_000019.10:35842177:TT:TTTT p.(Asn870LysfsTer36) ERR:SPDI Analogous +NM_015001.3:c.560G>A NP_055816.2:p.Arg187Gln NC_000001.11:15876356:G:A p.(Arg187Gln) NC_000001.11:15876356:G:A p.(Arg187Gln) NC_000001.11:15876356:G:A Identity +NM_001330430.4:c.361A>T NP_001317359.1:p.Met121Leu NC_000001.11:25402720:T:A p.(Met121Leu) NC_000001.11:25402720:T:A p.(Met121Leu) NC_000001.11:25402720:T:A Identity +NM_000760.4:c.1900G>A NP_000751.1:p.Gly634Ser NC_000001.11:36467615:C:T p.(Gly634Ser) NC_000001.11:36467615:C:T p.(Gly634Ser) NC_000001.11:36467615:C:T Identity +NM_000433.4:c.922C>T NP_000424.2:p.Gln308Ter NC_000001.11:183566921:G:A p.(Gln308Ter) NC_000001.11:183566921:G:A p.(Gln308Ter) NC_000001.11:183566921:G:A Identity +NM_006015.6:c.5668G>C NP_006006.3:p.Gly1890Arg NC_000001.11:26779565:G:C p.(Gly1890Arg) NC_000001.11:26779565:G:C p.(Gly1890Arg) NC_000001.11:26779565:G:C Identity +NM_001205228.2:c.493A>G NP_001192157.1:p.Lys165Glu NC_000001.11:109345809:T:C p.(Lys165Glu) NC_000001.11:109345809:T:C p.(Lys165Glu) NC_000001.11:109345809:T:C Identity +NM_001194937.2:c.290A>G NP_001181866.1:p.Asn97Ser NC_000001.11:151430834:T:C p.(Asn97Ser) NC_000001.11:151430834:T:C p.(Asn97Ser) NC_000001.11:151430834:T:C Identity +NM_002016.2:c.1816G>A NP_002007.1:p.Gly606Arg NC_000001.11:152313069:C:T p.(Gly606Arg) NC_000001.11:152313069:C:T p.(Gly606Arg) NC_000001.11:152313069:C:T Identity +NM_022120.2:c.607A>G NP_071403.1:p.Ile203Val NC_000001.11:39770648:T:C p.(Ile203Val) NC_000001.11:39770648:T:C p.(Ile203Val) NC_000001.11:39770648:T:C Identity +NM_001319245.2:c.1495G>C NP_001306174.1:p.Ala499Pro NC_000001.11:46023241:G:C p.(Ala499Pro) NC_000001.11:46023241:G:C p.(Ala499Pro) NC_000001.11:46023241:G:C Identity +NM_001317062.2:c.226G>C NP_001303991.1:p.Gly76Arg NC_000001.11:111448693:C:G p.(Gly76Arg) NC_000001.11:111448693:C:G p.(Gly76Arg) NC_000001.11:111448693:C:G Identity +NM_001170755.3:c.1763G>A NP_001164226.1:p.Cys588Tyr NC_000001.11:144423875:C:T p.(Cys588Tyr) NC_000001.11:144423875:C:T p.(Cys588Tyr) NC_000001.11:144423875:C:T Identity +NM_000130.5:c.6404C>T NP_000121.2:p.Ala2135Val NC_000001.11:169515567:G:A p.(Ala2135Val) NC_000001.11:169515567:G:A p.(Ala2135Val) NC_000001.11:169515567:G:A Identity +NM_005445.4:c.1142G>A NP_005436.1:p.Arg381Gln NC_000010.11:110584232:G:A p.(Arg381Gln) NC_000010.11:110584232:G:A p.(Arg381Gln) NC_000010.11:110584232:G:A Identity +NM_001146033.1:c.812T>C NP_001139505.1:p.Ile271Thr NC_000011.10:5967682:A:G p.(Ile271Thr) NC_000011.10:5967682:A:G p.(Ile271Thr) NC_000011.10:5967682:A:G Identity +NM_000331.6:c.332A>G NP_000322.3:p.Asn111Ser NC_000011.10:18269817:A:G p.(Asn111Ser) NC_000011.10:18269817:A:G p.(Asn111Ser) NC_000011.10:18269817:A:G Identity +NM_000127.3:c.1952del NP_000118.2:p.Asn651fs NC_000008.11:117804824:TT:T p.(Asn651IlefsTer7) NC_000008.11:117804824:TT:T p.(Asn651IlefsTer7) NC_000008.11:117804824:T: Analogous +NM_000492.4:c.2978A>G NP_000483.3:p.Asp993Gly NC_000007.14:117606742:A:G p.(Asp993Gly) NC_000007.14:117606742:A:G p.(Asp993Gly) NC_000007.14:117606742:A:G Identity +NM_001319960.2:c.1736G>A NP_001306889.1:p.Arg579Lys NC_000001.11:184710502:C:T p.(Arg579Lys) NC_000001.11:184710502:C:T p.(Arg579Lys) NC_000001.11:184710502:C:T Identity +NM_001314042.2:c.1462G>T NP_001300971.1:p.Glu488Ter NC_000001.11:202756359:C:A p.(Glu488Ter) NC_000001.11:202756359:C:A p.(Glu488Ter) NC_000001.11:202756359:C:A Identity +NM_001367479.1:c.3397del NP_001354408.1:p.Met1133fs NC_000001.11:225085607:AAAAAA:AAAAA p.(Met1133CysfsTer16) NC_000001.11:225085607:AAAAAA:AAAAA p.(Met1133CysfsTer16) NC_000001.11:225085612:A: Analogous +NM_001098623.2:c.15328G>T NP_001092093.2:p.Val5110Leu NC_000001.11:228322168:G:T p.(Val5110Leu) NC_000001.11:228322168:G:T p.(Val5110Leu) NC_000001.11:228322168:G:T Identity +NM_001379226.1:c.169T>G NP_001366155.1:p.Cys57Gly NC_000011.10:70820550:A:C p.(Cys57Gly) NC_000011.10:70820550:A:C p.(Cys57Gly) NC_000011.10:70820550:A:C Identity +NM_001098816.3:c.1822A>C NP_001092286.2:p.Met608Leu NC_000011.10:78812277:T:G p.(Met608Leu) NC_000011.10:78812277:T:G p.(Met608Leu) NC_000011.10:78812277:T:G Identity +NM_001143975.1:c.920G>A NP_001137447.1:p.Gly307Asp NC_000011.10:90086868:G:A p.(Gly307Asp) NC_000011.10:90086868:G:A p.(Gly307Asp) NC_000011.10:90086868:G:A Identity +NM_001005751.3:c.3920C>T NP_001005751.1:p.Thr1307Ile NC_000010.11:50132838:C:T p.(Thr1307Ile) NC_000010.11:50132838:C:T p.(Thr1307Ile) NC_000010.11:50132838:C:T Identity +NM_001141945.3:c.586A>T NP_001135417.1:p.Thr196Ser NC_000010.11:88941258:T:A p.(Thr196Ser) NC_000010.11:88941258:T:A p.(Thr196Ser) NC_000010.11:88941258:T:A Identity +NM_001355263.2:c.1370C>A NP_001342192.1:p.Ala457Asp NC_000010.11:79848530:C:A p.(Ala457Asp) NC_000010.11:79848530:C:A p.(Ala457Asp) NC_000010.11:79848530:C:A Identity +NM_015490.4:c.3331T>C NP_056305.1:p.Tyr1111His NC_000010.11:100488055:A:G p.(Tyr1111His) NC_000010.11:100488055:A:G p.(Tyr1111His) NC_000010.11:100488055:A:G Identity +NM_002458.3:c.9734T>C NP_002449.2:p.Leu3245Pro NC_000011.10:1246613:T:C p.(Leu3245Pro) NC_000011.10:1246613:T:C p.(Leu3245Pro) NC_000011.10:1246613:T:C Identity +NM_001135805.2:c.84del NP_001129277.1:p.Glu28fs NC_000012.12:79217602:G: p.(Glu28AspfsTer16) NC_000012.12:79217602:G: p.(Glu28AspfsTer16) NC_000012.12:79217602:G: Analogous +NM_001269039.3:c.11G>A NP_001255968.1:p.Ser4Asn NC_000010.11:110964368:G:A p.(Ser4Asn) NC_000010.11:110964368:G:A p.(Ser4Asn) NC_000010.11:110964368:G:A Identity +NM_001393578.1:c.598A>G NP_001380507.1:p.Ile200Val NC_000011.10:18934186:T:C p.(Ile200Val) NC_000011.10:18934186:T:C p.(Ile200Val) NC_000011.10:18934186:T:C Identity +NM_001009566.3:c.2853G>C NP_001009566.1:p.Glu951Asp NC_000001.11:9730600:C:G p.(Glu951Asp) NC_000001.11:9730600:C:G p.(Glu951Asp) NC_000001.11:9730600:C:G Identity +NM_001397473.1:c.4082A>C NP_001384402.1:p.Glu1361Ala NC_000001.11:39414346:A:C p.(Glu1361Ala) NC_000001.11:39414346:A:C p.(Glu1361Ala) NC_000001.11:39414346:A:C Identity +NM_001031853.5:c.1244C>A NP_001027024.3:p.Ala415Asp NC_000011.10:15225760:C:A p.(Ala415Asp) NC_000011.10:15225760:C:A p.(Ala415Asp) NC_000011.10:15225760:C:A Identity +NM_001286561.2:c.3313T>C NP_001273490.1:p.Ser1105Pro NC_000011.10:72014189:A:G p.(Ser1105Pro) NC_000011.10:72014189:A:G p.(Ser1105Pro) NC_000011.10:72014189:A:G Identity +NM_001190964.4:c.1557G>A NP_001177893.1:p.Met519Ile NC_000013.11:20019590:G:A p.(Met519Ile) NC_000013.11:20019590:G:A p.(Met519Ile) NC_000013.11:20019590:G:A Identity +NM_001166058.2:c.1654C>T NP_001159530.1:p.Leu552Phe NC_000013.11:31793027:C:T p.(Leu552Phe) NC_000013.11:31793027:C:T p.(Leu552Phe) NC_000013.11:31793027:C:T Identity +NM_001297655.2:c.1970G>A NP_001284584.1:p.Arg657Gln NC_000001.11:44766946:G:A p.(Arg657Gln) NC_000001.11:44766946:G:A p.(Arg657Gln) NC_000001.11:44766946:G:A Identity +NM_001199328.3:c.535A>G NP_001186257.3:p.Asn179Asp NC_000001.11:74205343:A:G p.(Asn179Asp) NC_000001.11:74205343:A:G p.(Asn179Asp) NC_000001.11:74205343:A:G Identity +NM_001253891.2:c.620G>A NP_001240820.1:p.Gly207Asp NC_000011.10:75797271:G:A p.(Gly207Asp) NC_000011.10:75797271:G:A p.(Gly207Asp) NC_000011.10:75797271:G:A Identity +NM_001008781.3:c.7376A>G NP_001008781.2:p.Gln2459Arg NC_000011.10:92800388:A:G p.(Gln2459Arg) NC_000011.10:92800388:A:G p.(Gln2459Arg) NC_000011.10:92800388:A:G Identity +NM_001372031.1:c.477C>T NP_001358960.1:p.Ile159= NC_000011.10:112028609:C:T p.(Ile159=) NC_000011.10:112028609:C:T p.(Ile159=) NC_000011.10:112028609:C:T Identity +NM_001002917.2:c.20C>A NP_001002917.1:p.Ser7Tyr NC_000011.10:124310746:G:T p.(Ser7Tyr) NC_000011.10:124310746:G:T p.(Ser7Tyr) NC_000011.10:124310746:G:T Identity +NM_001198915.2:c.1959G>C NP_001185844.1:p.Lys653Asn NC_000012.12:27688326:G:C p.(Lys653Asn) NC_000012.12:27688326:G:C p.(Lys653Asn) NC_000012.12:27688326:G:C Identity +NM_001005182.2:c.865A>C NP_001005182.1:p.Ser289Arg NC_000012.12:55321463:A:C p.(Ser289Arg) NC_000012.12:55321463:A:C p.(Ser289Arg) NC_000012.12:55321463:A:C Identity +NM_025114.4:c.823A>C NP_079390.3:p.Lys275Gln NC_000012.12:88129722:T:G p.(Lys275Gln) NC_000012.12:88129722:T:G p.(Lys275Gln) NC_000012.12:88129722:T:G Identity +NM_001080426.3:c.359G>A NP_001073895.1:p.Arg120Gln NC_000001.11:167117480:G:A p.(Arg120Gln) NC_000001.11:167117480:G:A p.(Arg120Gln) NC_000001.11:167117480:G:A Identity +NM_000721.4:c.3107G>A NP_000712.2:p.Gly1036Glu NC_000001.11:181733594:G:A p.(Gly1036Glu) NC_000001.11:181733594:G:A p.(Gly1036Glu) NC_000001.11:181733594:G:A Identity +NM_001287819.3:c.1452C>A NP_001274748.1:p.Cys484Ter NC_000001.11:196342179:G:T p.(Cys484Ter) NC_000001.11:196342179:G:T p.(Cys484Ter) NC_000001.11:196342179:G:T Identity +NM_001201478.2:c.889A>G NP_001188407.1:p.Lys297Glu NC_000001.11:206599033:T:C p.(Lys297Glu) NC_000001.11:206599033:T:C p.(Lys297Glu) NC_000001.11:206599033:T:C Identity +NM_007361.4:c.2176G>A NP_031387.3:p.Val726Met NC_000014.9:52038827:C:T p.(Val726Met) NC_000014.9:52038827:C:T p.(Val726Met) NC_000014.9:52038827:C:T Identity +NM_001353345.2:c.3074G>A NP_001340274.1:p.Arg1025Gln NC_000012.12:121817465:G:A p.(Arg1025Gln) NC_000012.12:121817465:G:A p.(Arg1025Gln) NC_000012.12:121817465:G:A Identity +NM_001002295.2:c.112G>C NP_001002295.1:p.Ala38Pro NC_000010.11:8055766:G:C p.(Ala38Pro) NC_000010.11:8055766:G:C p.(Ala38Pro) NC_000010.11:8055766:G:C Identity +NM_001411058.1:c.2095G>A NP_001397987.1:p.Glu699Lys NC_000010.11:103418622:G:A p.(Glu699Lys) NC_000010.11:103418622:G:A p.(Glu699Lys) NC_000010.11:103418622:G:A Identity +NM_173791.5:c.259C>G NP_776152.1:p.Pro87Ala NC_000010.11:117374968:G:C p.(Pro87Ala) NC_000010.11:117374968:G:C p.(Pro87Ala) NC_000010.11:117374968:G:C Identity +NM_001308120.2:c.3687G>C NP_001295049.1:p.Gln1229His NC_000014.9:45032250:G:C p.(Gln1229His) NC_000014.9:45032250:G:C p.(Gln1229His) NC_000014.9:45032250:G:C Identity +NM_018353.5:c.845A>C NP_060823.3:p.Asn282Thr NC_000014.9:45242331:T:G p.(Asn282Thr) NC_000014.9:45242331:T:G p.(Asn282Thr) NC_000014.9:45242331:T:G Identity +NM_001098816.3:c.6731G>A NP_001092286.2:p.Arg2244His NC_000011.10:78669613:C:T p.(Arg2244His) NC_000011.10:78669613:C:T p.(Arg2244His) NC_000011.10:78669613:C:T Identity +NM_002848.4:c.712A>T NP_002839.1:p.Asn238Tyr NC_000012.12:15501669:A:T p.(Asn238Tyr) NC_000012.12:15501669:A:T p.(Asn238Tyr) NC_000012.12:15501669:A:T Identity +NM_001261412.2:c.788T>C NP_001248341.1:p.Val263Ala NC_000012.12:57532802:A:G p.(Val263Ala) NC_000012.12:57532802:A:G p.(Val263Ala) NC_000012.12:57532802:A:G Identity +NM_006237.4:c.136C>T NP_006228.3:p.Leu46Phe NC_000013.11:78602538:G:A p.(Leu46Phe) NC_000013.11:78602538:G:A p.(Leu46Phe) NC_000013.11:78602538:G:A Identity +NM_001244189.2:c.2689C>T NP_001231118.1:p.Pro897Ser NC_000014.9:58470699:C:T p.(Pro897Ser) NC_000014.9:58470699:C:T p.(Pro897Ser) NC_000014.9:58470699:C:T Identity +NM_024496.4:c.1550C>T NP_078772.1:p.Ala517Val NC_000014.9:77026242:G:A p.(Ala517Val) NC_000014.9:77026242:G:A p.(Ala517Val) NC_000014.9:77026242:G:A Identity +NM_024496.4:c.178G>A NP_078772.1:p.Ala60Thr NC_000014.9:77027614:C:T p.(Ala60Thr) NC_000014.9:77027614:C:T p.(Ala60Thr) NC_000014.9:77027614:C:T Identity +NM_001355465.2:c.140C>T NP_001342394.1:p.Ser47Leu NC_000015.10:23360524:C:T p.(Ser47Leu) NC_000015.10:23360524:C:T p.(Ser47Leu) NC_000015.10:23360524:C:T Identity +NM_001220482.2:c.1320C>A NP_001207411.1:p.His440Gln NC_000015.10:36892265:G:T p.(His440Gln) NC_000015.10:36892265:G:T p.(His440Gln) NC_000015.10:36892265:G:T Identity +NM_144508.5:c.743C>T NP_653091.3:p.Pro248Leu NC_000015.10:40621006:C:T p.(Pro248Leu) NC_000015.10:40621006:C:T p.(Pro248Leu) NC_000015.10:40621006:C:T Identity +NM_016642.4:c.9281C>T NP_057726.4:p.Ala3094Val NC_000015.10:41855365:G:A p.(Ala3094Val) NC_000015.10:41855365:G:A p.(Ala3094Val) NC_000015.10:41855365:G:A Identity +NM_020759.3:c.7325C>G NP_065810.2:p.Pro2442Arg NC_000015.10:42688902:C:G p.(Pro2442Arg) NC_000015.10:42688902:C:G p.(Pro2442Arg) NC_000015.10:42688902:C:G Identity +NM_001350929.2:c.4775T>G NP_001337858.1:p.Val1592Gly NC_000014.9:104950375:A:C p.(Val1592Gly) NC_000014.9:104950375:A:C p.(Val1592Gly) NC_000014.9:104950375:A:C Identity +NM_004667.6:c.2048A>G NP_004658.3:p.Lys683Arg NC_000015.10:28262991:T:C p.(Lys683Arg) NC_000015.10:28262991:T:C p.(Lys683Arg) NC_000015.10:28262991:T:C Identity +NM_032802.4:c.599C>T NP_116191.2:p.Ala200Val NC_000015.10:50739813:G:A p.(Ala200Val) NC_000015.10:50739813:G:A p.(Ala200Val) NC_000015.10:50739813:G:A Identity +NM_001126131.2:c.3253C>T NP_001119603.1:p.Pro1085Ser NC_000015.10:89318950:G:A p.(Pro1085Ser) NC_000015.10:89318950:G:A p.(Pro1085Ser) NC_000015.10:89318950:G:A Identity +NM_016333.4:c.4978G>C NP_057417.3:p.Glu1660Gln NC_000016.10:2765505:G:C p.(Glu1660Gln) NC_000016.10:2765505:G:C p.(Glu1660Gln) NC_000016.10:2765505:G:C Identity +NM_001387142.1:c.2642C>T NP_001374071.1:p.Ser881Leu NC_000015.10:78001672:G:A p.(Ser881Leu) NC_000015.10:78001672:G:A p.(Ser881Leu) NC_000015.10:78001672:G:A Identity +NM_022450.5:c.2266C>A NP_071895.3:p.Leu756Ile NC_000016.10:58641:G:T p.(Leu756Ile) NC_000016.10:58641:G:T p.(Leu756Ile) NC_000016.10:58641:G:T Identity +NM_001130012.3:c.511C>T NP_001123484.1:p.Arg171Trp NC_000016.10:2036419:C:T p.(Arg171Trp) NC_000016.10:2036419:C:T p.(Arg171Trp) NC_000016.10:2036419:C:T Identity +NM_001243403.2:c.976C>A NP_001230332.1:p.Pro326Thr NC_000016.10:10982901:C:A p.(Pro326Thr) NC_000016.10:10982901:C:A p.(Pro326Thr) NC_000016.10:10982901:C:A Identity +NM_001127892.2:c.342_343del NP_001121364.1:p.Gln115fs NC_000016.10:51141587:GGG:G p.(Gln115GlyfsTer57) NC_000016.10:51141587:GGG:G p.(Gln115GlyfsTer57) NC_000016.10:51141587:GG: Analogous +NM_001127892.2:c.268A>G NP_001121364.1:p.Asn90Asp NC_000016.10:51141662:T:C p.(Asn90Asp) NC_000016.10:51141662:T:C p.(Asn90Asp) NC_000016.10:51141662:T:C Identity +NM_001199096.2:c.1516G>A NP_001186025.1:p.Asp506Asn NC_000016.10:1344489:G:A p.(Asp506Asn) NC_000016.10:1344489:G:A p.(Asp506Asn) NC_000016.10:1344489:G:A Identity +NM_000296.4:c.9469G>A NP_000287.4:p.Asp3157Asn NC_000016.10:2100494:C:T p.(Asp3157Asn) NC_000016.10:2100494:C:T p.(Asp3157Asn) NC_000016.10:2100494:C:T Identity +NM_015492.5:c.1775G>A NP_056307.3:p.Arg592His NC_000015.10:75207822:G:A p.(Arg592His) NC_000015.10:75207822:G:A p.(Arg592His) NC_000015.10:75207822:G:A Identity +NM_014272.5:c.3286C>A NP_055087.2:p.Pro1096Thr NC_000015.10:78766624:G:T p.(Pro1096Thr) NC_000015.10:78766624:G:T p.(Pro1096Thr) NC_000015.10:78766624:G:T Identity +NM_001243156.2:c.2259G>T NP_001230085.2:p.Glu753Asp NC_000016.10:84179213:C:A p.(Glu753Asp) NC_000016.10:84179213:C:A p.(Glu753Asp) NC_000016.10:84179213:C:A Identity +NM_000173.7:c.571G>A NP_000164.5:p.Asp191Asn NC_000017.11:4933174:G:A p.(Asp191Asn) NC_000017.11:4933174:G:A p.(Asp191Asn) NC_000017.11:4933174:G:A Identity +NM_000937.5:c.980G>A NP_000928.1:p.Arg327His NC_000017.11:7497515:G:A p.(Arg327His) NC_000017.11:7497515:G:A p.(Arg327His) NC_000017.11:7497515:G:A Identity +NM_178844.4:c.325G>C NP_849172.2:p.Val109Leu NC_000016.10:3564611:C:G p.(Val109Leu) NC_000016.10:3564611:C:G p.(Val109Leu) NC_000016.10:3564611:C:G Identity +NM_002705.5:c.1417G>A NP_002696.4:p.Val473Met NC_000016.10:4893615:C:T p.(Val473Met) NC_000016.10:4893615:C:T p.(Val473Met) NC_000016.10:4893615:C:T Identity +NM_001265612.2:c.6149C>T NP_001252541.1:p.Thr2050Met NC_000016.10:58531970:G:A p.(Thr2050Met) NC_000016.10:58531970:G:A p.(Thr2050Met) NC_000016.10:58531970:G:A Identity +NM_014712.3:c.1474A>G NP_055527.1:p.Ile492Val NC_000016.10:30965215:A:G p.(Ile492Val) NC_000016.10:30965215:A:G p.(Ile492Val) NC_000016.10:30965215:A:G Identity +NM_001394998.1:c.1556T>C NP_001381927.1:p.Met519Thr NC_000017.11:63319070:T:C p.(Met519Thr) NC_000017.11:63319070:T:C p.(Met519Thr) NC_000017.11:63319070:T:C Identity +NM_007215.4:c.1219C>A NP_009146.2:p.Leu407Ile NC_000017.11:64480361:G:T p.(Leu407Ile) NC_000017.11:64480361:G:T p.(Leu407Ile) NC_000017.11:64480361:G:T Identity +NM_001113491.2:c.340A>T NP_001106963.1:p.Ile114Phe NC_000017.11:77402321:A:T p.(Ile114Phe) NC_000017.11:77402321:A:T p.(Ile114Phe) NC_000017.11:77402321:A:T Identity +NM_001005271.3:c.898G>A NP_001005271.2:p.Ala300Thr NC_000017.11:7893496:G:A p.(Ala300Thr) NC_000017.11:7893496:G:A p.(Ala300Thr) NC_000017.11:7893496:G:A Identity +NM_152599.4:c.1292C>T NP_689812.3:p.Thr431Met NC_000017.11:8797828:G:A p.(Thr431Met) NC_000017.11:8797828:G:A p.(Thr431Met) NC_000017.11:8797828:G:A Identity +NM_001040431.3:c.122C>T NP_001035521.1:p.Ala41Val NC_000017.11:42798559:G:A p.(Ala41Val) NC_000017.11:42798559:G:A p.(Ala41Val) NC_000017.11:42798559:G:A Identity +NM_001320747.2:c.3550G>A NP_001307676.1:p.Glu1184Lys NC_000017.11:76009720:C:T p.(Glu1184Lys) NC_000017.11:76009720:C:T p.(Glu1184Lys) NC_000017.11:76009720:C:T Identity +NM_001194.4:c.1415C>T NP_001185.3:p.Ser472Leu NC_000019.10:608159:C:T p.(Ser472Leu) NC_000019.10:608159:C:T p.(Ser472Leu) NC_000019.10:608159:C:T Identity +NM_032108.4:c.2642A>G NP_115484.2:p.Asp881Gly NC_000019.10:4543625:T:C p.(Asp881Gly) NC_000019.10:4543625:T:C p.(Asp881Gly) NC_000019.10:4543625:T:C Identity +NM_001166111.2:c.2977C>G NP_001159583.1:p.His993Asp NC_000019.10:7555616:C:G p.(His993Asp) NC_000019.10:7555616:C:G p.(His993Asp) NC_000019.10:7555616:C:G Identity +NM_001256324.2:c.3599A>G NP_001243253.1:p.Asn1200Ser NC_000017.11:50599767:A:G p.(Asn1200Ser) NC_000017.11:50599767:A:G p.(Asn1200Ser) NC_000017.11:50599767:A:G Identity +NM_001144070.2:c.1256G>A NP_001137542.1:p.Arg419His NC_000017.11:50664028:G:A p.(Arg419His) NC_000017.11:50664028:G:A p.(Arg419His) NC_000017.11:50664028:G:A Identity +NM_001394998.1:c.3868G>C NP_001381927.1:p.Val1290Leu NC_000017.11:63412099:G:C p.(Val1290Leu) NC_000017.11:63412099:G:C p.(Val1290Leu) NC_000017.11:63412099:G:C Identity +NM_001394998.1:c.3350G>C NP_001381927.1:p.Gly1117Ala NC_000017.11:63405139:G:C p.(Gly1117Ala) NC_000017.11:63405139:G:C p.(Gly1117Ala) NC_000017.11:63405139:G:C Identity +NM_017947.4:c.1466G>A NP_060417.4:p.Arg489His NC_000018.10:36215645:G:A p.(Arg489His) NC_000018.10:36215645:G:A p.(Arg489His) NC_000018.10:36215645:G:A Identity +NM_001379141.1:c.3377G>T NP_001366070.1:p.Gly1126Val NC_000018.10:44952716:G:T p.(Gly1126Val) NC_000018.10:44952716:G:T p.(Gly1126Val) NC_000018.10:44952716:G:T Identity +NM_001306085.2:c.1682G>A NP_001293014.1:p.Arg561Gln NC_000018.10:79307142:G:A p.(Arg561Gln) NC_000018.10:79307142:G:A p.(Arg561Gln) NC_000018.10:79307142:G:A Identity +NM_001401501.2:c.6521C>T NP_001388430.1:p.Thr2174Ile NC_000019.10:8974737:G:A p.(Thr2174Ile) NC_000019.10:8974737:G:A p.(Thr2174Ile) NC_000019.10:8974737:G:A Identity +NM_001145056.2:c.451C>T NP_001138528.1:p.Leu151Phe NC_000019.10:10631489:C:T p.(Leu151Phe) NC_000019.10:10631489:C:T p.(Leu151Phe) NC_000019.10:10631489:C:T Identity +NM_000540.3:c.7696G>A NP_000531.2:p.Ala2566Thr NC_000019.10:38502587:G:A p.(Ala2566Thr) NC_000019.10:38502587:G:A p.(Ala2566Thr) NC_000019.10:38502587:G:A Identity +NM_001351693.2:c.1843A>G NP_001338622.1:p.Ile615Val NC_000019.10:39423073:A:G p.(Ile615Val) NC_000019.10:39423073:A:G p.(Ile615Val) NC_000019.10:39423073:A:G Identity +NM_001277333.2:c.773A>T NP_001264262.1:p.Glu258Val NC_000018.10:12099634:A:T p.(Glu258Val) NC_000018.10:12099634:A:T p.(Glu258Val) NC_000018.10:12099634:A:T Identity +NM_001267560.2:c.2296C>T NP_001254489.1:p.Arg766Trp NC_000019.10:3746849:C:T p.(Arg766Trp) NC_000019.10:3746849:C:T p.(Arg766Trp) NC_000019.10:3746849:C:T Identity +NM_001276479.2:c.1948A>C NP_001263408.1:p.Lys650Gln NC_000019.10:5694774:T:G p.(Lys650Gln) NC_000019.10:5694774:T:G p.(Lys650Gln) NC_000019.10:5694774:T:G Identity +NM_001258206.2:c.1876G>C NP_001245135.1:p.Glu626Gln NC_000019.10:6836529:G:C p.(Glu626Gln) NC_000019.10:6836529:G:C p.(Glu626Gln) NC_000019.10:6836529:G:C Identity +NM_001388453.1:c.2540T>A NP_001375382.1:p.Val847Asp NC_000017.11:76292186:A:T p.(Val847Asp) NC_000017.11:76292186:A:T p.(Val847Asp) NC_000017.11:76292186:A:T Identity +NM_006796.3:c.2132G>T NP_006787.2:p.Arg711Ile NC_000018.10:12337383:C:A p.(Arg711Ile) NC_000018.10:12337383:C:A p.(Arg711Ile) NC_000018.10:12337383:C:A Identity +NM_030632.3:c.2213C>T NP_085135.1:p.Ser738Phe NC_000018.10:33739616:C:T p.(Ser738Phe) NC_000018.10:33739616:C:T p.(Ser738Phe) NC_000018.10:33739616:C:T Identity +NM_001308210.2:c.2042C>T NP_001295139.1:p.Pro681Leu NC_000018.10:75287448:C:T p.(Pro681Leu) NC_000018.10:75287448:C:T p.(Pro681Leu) NC_000018.10:75287448:C:T Identity +NM_001367197.1:c.1429C>T NP_001354126.1:p.Arg477Trp NC_000019.10:1506031:G:A p.(Arg477Trp) NC_000019.10:1506031:G:A p.(Arg477Trp) NC_000019.10:1506031:G:A Identity +NM_006332.5:c.179C>T NP_006323.2:p.Pro60Leu NC_000019.10:18175085:C:T p.(Pro60Leu) NC_000019.10:18175085:C:T p.(Pro60Leu) NC_000019.10:18175085:C:T Identity +NM_001145304.2:c.3542G>A NP_001138776.1:p.Arg1181Gln NC_000019.10:18257741:C:T p.(Arg1181Gln) NC_000019.10:18257741:C:T p.(Arg1181Gln) NC_000019.10:18257741:C:T Identity +NM_001167867.2:c.86A>G NP_001161339.1:p.His29Arg NC_000019.10:41438364:T:C p.(His29Arg) NC_000019.10:41438364:T:C p.(His29Arg) NC_000019.10:41438364:T:C Identity +NM_001304815.2:c.3059C>T NP_001291744.1:p.Pro1020Leu NC_000019.10:42287119:C:T p.(Pro1020Leu) NC_000019.10:42287119:C:T p.(Pro1020Leu) NC_000019.10:42287119:C:T Identity +NM_001379291.1:c.3139C>T NP_001366220.1:p.Arg1047Trp NC_000019.10:15242929:G:A p.(Arg1047Trp) NC_000019.10:15242929:G:A p.(Arg1047Trp) NC_000019.10:15242929:G:A Identity +NM_007253.4:c.146G>A NP_009184.1:p.Arg49Gln NC_000019.10:15615761:G:A p.(Arg49Gln) NC_000019.10:15615761:G:A p.(Arg49Gln) NC_000019.10:15615761:G:A Identity +NM_001277126.2:c.268C>T NP_001264055.1:p.Gln90Ter NC_000019.10:53823906:G:A p.(Gln90Ter) NC_000019.10:53823906:G:A p.(Gln90Ter) NC_000019.10:53823906:G:A Identity +NM_001348729.2:c.4409A>G NP_001335658.1:p.Asp1470Gly NC_000002.12:8731629:T:C p.(Asp1470Gly) NC_000002.12:8731629:T:C p.(Asp1470Gly) NC_000002.12:8731629:T:C Identity +NM_001270425.2:c.1531A>G NP_001257354.1:p.Ile511Val NC_000002.12:39282547:T:C p.(Ile511Val) NC_000002.12:39282547:T:C p.(Ile511Val) NC_000002.12:39282547:T:C Identity +NM_003323.3:c.194G>A NP_003314.2:p.Arg65His NC_000019.10:48896446:C:T p.(Arg65His) NC_000019.10:48896446:C:T p.(Arg65His) NC_000019.10:48896446:C:T Identity +NM_001077186.2:c.5824A>G NP_001070654.1:p.Met1942Val NC_000019.10:50309139:A:G p.(Met1942Val) NC_000019.10:50309139:A:G p.(Met1942Val) NC_000019.10:50309139:A:G Identity +NM_001031850.4:c.1031G>A NP_001027020.1:p.Arg344His NC_000019.10:42907130:C:T p.(Arg344His) NC_000019.10:42907130:C:T p.(Arg344His) NC_000019.10:42907130:C:T Identity +NM_000400.4:c.494_495insT NP_000391.1:p.Arg166fs NC_000019.10:45364937::A p.(Arg166AlafsTer2) NC_000019.10:45364936:C:A p.(Arg166AlafsTer2) NC_000019.10:45364937:CC:A Analogous +NM_020719.3:c.3937G>A NP_065770.1:p.Val1313Met NC_000019.10:49599529:G:A p.(Val1313Met) NC_000019.10:49599529:G:A p.(Val1313Met) NC_000019.10:49599529:G:A Identity +NM_175063.6:c.349G>A NP_778233.4:p.Gly117Arg NC_000019.10:50480161:G:A p.(Gly117Arg) NC_000019.10:50480161:G:A p.(Gly117Arg) NC_000019.10:50480161:G:A Identity +NM_033109.5:c.5C>T NP_149100.2:p.Ala2Val NC_000002.12:55693818:G:A p.(Ala2Val) NC_000002.12:55693818:G:A p.(Ala2Val) NC_000002.12:55693818:G:A Identity +NM_014709.4:c.8897G>A NP_055524.3:p.Arg2966Gln NC_000002.12:61208920:C:T p.(Arg2966Gln) NC_000002.12:61208920:C:T p.(Arg2966Gln) NC_000002.12:61208920:C:T Identity +NM_002976.4:c.4262G>A NP_002967.2:p.Gly1421Asp NC_000002.12:166406366:C:T p.(Gly1421Asp) NC_000002.12:166406366:C:T p.(Gly1421Asp) NC_000002.12:166406366:C:T Identity +NM_005381.3:c.741CGA[3] NP_005372.2:p.Asp250del NC_000002.12:231460727:TCGTCGTCGTCGTC:TCGTCGTCGTC p.(Asp250del) NC_000002.12:231460738:G:TCGTCGTCG ERR:Parse ERR:Parse Identity +NM_006392.4:c.614A>G NP_006383.2:p.Asn205Ser NC_000020.11:2655368:A:G p.(Asn205Ser) NC_000020.11:2655368:A:G p.(Asn205Ser) NC_000020.11:2655368:A:G Identity +NM_001371271.1:c.3488C>T NP_001358200.1:p.Pro1163Leu NC_000002.12:120989401:C:T p.(Pro1163Leu) NC_000002.12:120989401:C:T p.(Pro1163Leu) NC_000002.12:120989401:C:T Identity +NM_001345864.2:c.1787G>A NP_001332793.1:p.Arg596Gln NC_000002.12:98256146:G:A p.(Arg596Gln) NC_000002.12:98256146:G:A p.(Arg596Gln) NC_000002.12:98256146:G:A Identity +NM_001002258.5:c.193A>G NP_001002258.1:p.Ile65Val NC_000002.12:175179177:T:C p.(Ile65Val) NC_000002.12:175179177:T:C p.(Ile65Val) NC_000002.12:175179177:T:C Identity +NM_001382235.1:c.379T>G NP_001369164.1:p.Tyr127Asp NC_000020.11:63446754:A:C p.(Tyr127Asp) NC_000020.11:63446754:A:C p.(Tyr127Asp) NC_000020.11:63446754:A:C Identity +NM_001320350.2:c.3053C>T NP_001307279.2:p.Pro1018Leu NC_000021.9:44413980:C:T p.(Pro1018Leu) NC_000021.9:44413980:C:T p.(Pro1018Leu) NC_000021.9:44413980:C:T Identity +NM_001267550.2:c.38510C>T NP_001254479.2:p.Ala12837Val NC_000002.12:178653851:G:A p.(Ala12837Val) NC_000002.12:178653851:G:A p.(Ala12837Val) NC_000002.12:178653851:G:A Identity +NM_001256850.1:c.27019A>G NP_001243779.1:p.Ile9007Val NC_000002.12:178711265:T:C p.(Ile9007Val) NC_000002.12:178711265:T:C p.(Ile9007Val) NC_000002.12:178711265:T:C Identity +NM_133379.5:c.11205A>C NP_596870.2:p.Glu3735Asp NC_000002.12:178751194:T:G p.(Glu3735Asp) NC_000002.12:178751194:T:G p.(Glu3735Asp) NC_000002.12:178751194:T:G Identity +NM_001256850.1:c.4378G>A NP_001243779.1:p.Val1460Met NC_000002.12:178777805:C:T p.(Val1460Met) NC_000002.12:178777805:C:T p.(Val1460Met) NC_000002.12:178777805:C:T Identity +NM_173651.4:c.1045G>A NP_775922.3:p.Ala349Thr NC_000002.12:185756244:G:A p.(Ala349Thr) NC_000002.12:185756244:G:A p.(Ala349Thr) NC_000002.12:185756244:G:A Identity +NM_001284214.2:c.920G>A NP_001271143.1:p.Arg307His NC_000002.12:229858878:C:T p.(Arg307His) NC_000002.12:229858878:C:T p.(Arg307His) NC_000002.12:229858878:C:T Identity +NM_001174089.2:c.1154_1161del NP_001167560.1:p.Thr385fs NC_000020.11:3230939:CCCGTCTG: p.(Thr385SerfsTer47) NC_000020.11:3230939:CCCGTCTG: p.(Thr385SerfsTer47) NC_000020.11:3230939:CCCGTCTG: Analogous +NM_001256850.1:c.3038T>A NP_001243779.1:p.Phe1013Tyr NC_000002.12:178782867:A:T p.(Phe1013Tyr) NC_000002.12:178782867:A:T p.(Phe1013Tyr) NC_000002.12:178782867:A:T Identity +NM_001349277.2:c.237C>T NP_001336206.1:p.His79= NC_000003.12:15766285:G:A p.(His79=) NC_000003.12:15766285:G:A p.(His79=) NC_000003.12:15766285:G:A Identity +NM_153334.7:c.2573A>G NP_699165.3:p.Glu858Gly NC_000022.11:20425417:T:C p.(Glu858Gly) NC_000022.11:20425417:T:C p.(Glu858Gly) NC_000022.11:20425417:T:C Identity +NM_006767.4:c.1281C>A NP_006758.2:p.Cys427Ter NC_000022.11:20993681:C:A p.(Cys427Ter) NC_000022.11:20993681:C:A p.(Cys427Ter) NC_000022.11:20993681:C:A Identity +NM_025219.3:c.91A>G NP_079495.1:p.Ile31Val NC_000020.11:63928435:A:G p.(Ile31Val) NC_000020.11:63928435:A:G p.(Ile31Val) NC_000020.11:63928435:A:G Identity +NM_015241.3:c.3919A>G NP_056056.2:p.Arg1307Gly NC_000022.11:17818741:T:C p.(Arg1307Gly) NC_000022.11:17818741:T:C p.(Arg1307Gly) NC_000022.11:17818741:T:C Identity +NM_017613.4:c.178G>C NP_060083.1:p.Ala60Pro NC_000021.9:33588463:C:G p.(Ala60Pro) NC_000021.9:33588463:C:G p.(Ala60Pro) NC_000021.9:33588463:C:G Identity +NM_001271534.3:c.2477G>A NP_001258463.1:p.Arg826Gln NC_000021.9:40189117:C:T p.(Arg826Gln) NC_000021.9:40189117:C:T p.(Arg826Gln) NC_000021.9:40189117:C:T Identity +NM_173354.5:c.428A>G NP_775490.2:p.His143Arg NC_000021.9:43421708:T:C p.(His143Arg) NC_000021.9:43421708:T:C p.(His143Arg) NC_000021.9:43421708:T:C Identity +NM_001159929.1:c.499A>G NP_001153401.1:p.Met167Val NC_000003.12:48378466:A:G p.(Met167Val) NC_000003.12:48378466:A:G p.(Met167Val) NC_000003.12:48378466:A:G Identity +NM_016128.4:c.257G>A NP_057212.1:p.Arg86Gln NC_000003.12:129252888:G:A p.(Arg86Gln) NC_000003.12:129252888:G:A p.(Arg86Gln) NC_000003.12:129252888:G:A Identity +NM_001385060.1:c.4468G>A NP_001371989.1:p.Val1490Met NC_000003.12:151445512:C:T p.(Val1490Met) NC_000003.12:151445512:C:T p.(Val1490Met) NC_000003.12:151445512:C:T Identity +NM_001348250.2:c.266C>T NP_001335179.1:p.Thr89Ile NC_000003.12:11017869:C:T p.(Thr89Ile) NC_000003.12:11017869:C:T p.(Thr89Ile) NC_000003.12:11017869:C:T Identity +NM_001302378.2:c.215_216del NP_001289307.1:p.Glu72fs NC_000003.12:15090471:CTCT:CT p.(Glu72ValfsTer7) NC_000003.12:15090471:CTCT:CT p.(Glu72ValfsTer7) NC_000003.12:15090471:CT: Analogous +NM_001322468.1:c.17312G>A NP_001309397.1:p.Ser5771Asn NC_000003.12:195779565:C:T p.(Ser5771Asn) NT_187532.1:152090:C:T p.(Ser5771Asn) NC_000003.12:152090:A:T Identity +NM_001003694.2:c.2504C>T NP_001003694.1:p.Thr835Met NC_000003.12:9743769:C:T p.(Thr835Met) NC_000003.12:9743769:C:T p.(Thr835Met) NC_000003.12:9743769:C:T Identity +NM_181435.6:c.256C>T NP_852100.3:p.His86Tyr NC_000005.10:34042869:G:A p.(His86Tyr) NC_000005.10:34042869:G:A p.(His86Tyr) NC_000005.10:34042869:G:A Identity +NM_001068.3:c.3236T>A NP_001059.2:p.Ile1079Asn NC_000003.12:25618661:A:T p.(Ile1079Asn) NC_000003.12:25618661:A:T p.(Ile1079Asn) NC_000003.12:25618661:A:T Identity +NM_014602.3:c.1271A>G NP_055417.1:p.His424Arg NC_000003.12:130733726:T:C p.(His424Arg) NC_000003.12:130733726:T:C p.(His424Arg) NC_000003.12:130733726:T:C Identity +NM_001025205.2:c.1048G>A NP_001020376.1:p.Val350Met NC_000003.12:184182240:G:A p.(Val350Met) NC_000003.12:184182240:G:A p.(Val350Met) NC_000003.12:184182240:G:A Identity +NM_001322468.1:c.12379T>C NP_001309397.1:p.Ser4127Pro NC_000003.12:195783007:A:G p.(Ser4127Pro) NT_187532.1:157023:A:G p.(Ser4127Pro) NC_000003.12:157023:T:G Identity +NM_181808.4:c.2048C>T NP_861524.2:p.Ala683Val NC_000004.12:2095867:G:A p.(Ala683Val) NC_000004.12:2095867:G:A p.(Ala683Val) NC_000004.12:2095867:G:A Identity +NM_001122679.2:c.20G>A NP_001116151.1:p.Arg7Gln NC_000005.10:167284856:G:A p.(Arg7Gln) NC_000005.10:167284856:G:A p.(Arg7Gln) NC_000005.10:167284856:G:A Identity +NM_001322468.1:c.4519G>A NP_001309397.1:p.Ala1507Thr NC_000003.12:195787891:C:T p.(Ala1507Thr) NT_187532.1:164883:C:T p.(Ala1507Thr) NC_000003.12:164883:A:T Identity +NM_001073.3:c.1091G>A NP_001064.1:p.Gly364Asp NC_000004.12:69204648:C:T p.(Gly364Asp) NC_000004.12:69204648:C:T p.(Gly364Asp) NC_000004.12:69204648:C:T Identity +NM_001127208.3:c.674T>C NP_001120680.1:p.Leu225Pro NC_000004.12:105234615:T:C p.(Leu225Pro) NC_000004.12:105234615:T:C p.(Leu225Pro) NC_000004.12:105234615:T:C Identity +NM_001010938.2:c.2284G>A NP_001010938.2:p.Gly762Ser NC_000003.12:195868085:C:T p.(Gly762Ser) NC_000003.12:195868085:C:T p.(Gly762Ser) NC_000003.12:195868085:C:T Identity +NM_018290.4:c.677A>G NP_060760.2:p.Asn226Ser NC_000004.12:37840216:A:G p.(Asn226Ser) NC_000004.12:37840216:A:G p.(Asn226Ser) NC_000004.12:37840216:A:G Identity +NM_020859.4:c.442C>T NP_065910.3:p.Arg148Trp NC_000004.12:76710273:C:T p.(Arg148Trp) NC_000004.12:76710273:C:T p.(Arg148Trp) NC_000004.12:76710273:C:T Identity +NM_000128.4:c.778T>C NP_000119.1:p.Ser260Pro NC_000004.12:186280033:T:C p.(Ser260Pro) NC_000004.12:186280033:T:C p.(Ser260Pro) NC_000004.12:186280033:T:C Identity +NM_001288715.1:c.1814C>T NP_001275644.1:p.Ser605Leu NC_000005.10:11159647:G:A p.(Ser605Leu) NC_000005.10:11159647:G:A p.(Ser605Leu) NC_000005.10:11159647:G:A Identity +NM_001164664.2:c.3545C>T NP_001158136.1:p.Pro1182Leu NC_000005.10:67153476:C:T p.(Pro1182Leu) NC_000005.10:67153476:C:T p.(Pro1182Leu) NC_000005.10:67153476:C:T Identity +NM_000038.6:c.4538A>C NP_000029.2:p.Glu1513Ala NC_000005.10:112840131:A:C p.(Glu1513Ala) NC_000005.10:112840131:A:C p.(Glu1513Ala) NC_000005.10:112840131:A:C Identity +NM_024830.5:c.1439C>G NP_079106.3:p.Ala480Gly NC_000005.10:1463816:G:C p.(Ala480Gly) NC_000005.10:1463816:G:C p.(Ala480Gly) NC_000005.10:1463816:G:C Identity +NM_013391.3:c.335G>T NP_037523.2:p.Ser112Ile NC_000005.10:79055849:C:A p.(Ser112Ile) NC_000005.10:79055849:C:A p.(Ser112Ile) NC_000005.10:79055849:C:A Identity +NM_032119.4:c.15301G>A NP_115495.3:p.Gly5101Arg NC_000005.10:90810560:G:A p.(Gly5101Arg) NC_000005.10:90810560:G:A p.(Gly5101Arg) NC_000005.10:90810560:G:A Identity +NM_001372233.1:c.941C>T NP_001359162.1:p.Pro314Leu NC_000005.10:114362881:C:T p.(Pro314Leu) NC_000005.10:114362881:C:T p.(Pro314Leu) NC_000005.10:114362881:C:T Identity +NM_018900.4:c.1345A>C NP_061723.1:p.Asn449His NC_000005.10:140787634:A:C p.(Asn449His) NC_000005.10:140787634:A:C p.(Asn449His) NC_000005.10:140787634:A:C Identity +NM_001447.3:c.9499G>C NP_001438.1:p.Gly3167Arg NC_000005.10:151531898:C:G p.(Gly3167Arg) NC_000005.10:151531898:C:G p.(Gly3167Arg) NC_000005.10:151531898:C:G Identity +NM_005245.4:c.11002C>T NP_005236.2:p.Arg3668Trp NC_000004.12:186603523:G:A p.(Arg3668Trp) NC_000004.12:186603523:G:A p.(Arg3668Trp) NC_000004.12:186603523:G:A Identity +NM_182632.3:c.588G>A NP_872438.2:p.Met196Ile NC_000005.10:1235628:G:A p.(Met196Ile) NC_000005.10:1235628:G:A p.(Met196Ile) NC_000005.10:1235628:G:A Identity +NM_007118.4:c.1024C>A NP_009049.2:p.Leu342Met NC_000005.10:14291198:C:A p.(Leu342Met) NC_000005.10:14291198:C:A p.(Leu342Met) NC_000005.10:14291198:C:A Identity +NM_007118.4:c.1796C>G NP_009049.2:p.Ser599Cys NC_000005.10:14330841:C:G p.(Ser599Cys) NC_000005.10:14330841:C:G p.(Ser599Cys) NC_000005.10:14330841:C:G Identity +NM_001447.3:c.11899G>A NP_001438.1:p.Gly3967Arg NC_000005.10:151512170:C:T p.(Gly3967Arg) NC_000005.10:151512170:C:T p.(Gly3967Arg) NC_000005.10:151512170:C:T Identity +NM_001447.3:c.3869C>A NP_001438.1:p.Ala1290Asp NC_000005.10:151554437:G:T p.(Ala1290Asp) NC_000005.10:151554437:G:T p.(Ala1290Asp) NC_000005.10:151554437:G:T Identity +NM_001300899.2:c.542G>A NP_001287828.1:p.Arg181Lys NC_000006.12:75835944:G:A p.(Arg181Lys) NC_000006.12:75835944:G:A p.(Arg181Lys) NC_000006.12:75835944:G:A Identity +NM_015021.3:c.189G>C NP_055836.1:p.Glu63Asp NC_000006.12:87215922:G:C p.(Glu63Asp) NC_000006.12:87215922:G:C p.(Glu63Asp) NC_000006.12:87215922:G:C Identity +NM_001024934.2:c.1382C>T NP_001020105.1:p.Thr461Ile NC_000006.12:110101727:G:A p.(Thr461Ile) NC_000006.12:110101727:G:A p.(Thr461Ile) NC_000006.12:110101727:G:A Identity +NM_001286431.2:c.3271C>T NP_001273360.1:p.Arg1091Cys NC_000006.12:111374849:G:A p.(Arg1091Cys) NC_000006.12:111374849:G:A p.(Arg1091Cys) NC_000006.12:111374849:G:A Identity +NM_033071.5:c.9013T>C NP_149062.2:p.Cys3005Arg NC_000006.12:152381022:A:G p.(Cys3005Arg) NC_000006.12:152381022:A:G p.(Cys3005Arg) NC_000006.12:152381022:A:G Identity +NM_000876.4:c.3377A>G NP_000867.3:p.Asn1126Ser NC_000006.12:160061616:A:G p.(Asn1126Ser) NC_000006.12:160061616:A:G p.(Asn1126Ser) NC_000006.12:160061616:A:G Identity +NM_032538.3:c.2099G>A NP_115927.1:p.Arg700Gln NC_000006.12:43282838:G:A p.(Arg700Gln) NC_000006.12:43282838:G:A p.(Arg700Gln) NC_000006.12:43282838:G:A Identity +NM_001160130.2:c.2047C>G NP_001153602.1:p.Leu683Val NC_000006.12:73194688:C:G p.(Leu683Val) NC_000006.12:73194688:C:G p.(Leu683Val) NC_000006.12:73194688:C:G Identity +NM_020340.5:c.4141G>A NP_065073.3:p.Gly1381Arg NC_000006.12:138311450:G:A p.(Gly1381Arg) NC_000006.12:138311450:G:A p.(Gly1381Arg) NC_000006.12:138311450:G:A Identity +NM_001346813.1:c.5254G>C NP_001333742.1:p.Asp1752His NC_000006.12:157206274:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001191056.3:c.1774T>G NP_001177985.1:p.Ser592Ala NC_000007.14:31815962:A:C p.(Ser592Ala) NC_000007.14:31815962:A:C p.(Ser592Ala) NC_000007.14:31815962:A:C Identity +NM_001320327.2:c.125C>T NP_001307256.1:p.Ala42Val NC_000007.14:56104400:G:A p.(Ala42Val) NC_000007.14:56104400:G:A p.(Ala42Val) NC_000007.14:56104400:G:A Identity +NM_014510.3:c.12080C>G NP_055325.2:p.Ser4027Ter NC_000007.14:82915905:G:C p.(Ser4027Ter) NC_000007.14:82915905:G:C p.(Ser4027Ter) NC_000007.14:82915905:G:C Identity +NM_005522.5:c.329C>T NP_005513.2:p.Pro110Leu NC_000007.14:27095583:G:A p.(Pro110Leu) NC_000007.14:27095583:G:A p.(Pro110Leu) NC_000007.14:27095583:G:A Identity +NM_012453.4:c.117C>A NP_036585.1:p.Ser39Arg NC_000007.14:73578432:G:T p.(Ser39Arg) NC_000007.14:73578432:G:T p.(Ser39Arg) NC_000007.14:73578432:G:T Identity +NM_001193307.2:c.1622T>C NP_001180236.1:p.Val541Ala NC_000007.14:93104475:A:G p.(Val541Ala) NC_000007.14:93104475:A:G p.(Val541Ala) NC_000007.14:93104475:A:G Identity +NM_001301161.2:c.1162G>A NP_001288090.1:p.Ala388Thr NC_000007.14:106016024:G:A p.(Ala388Thr) NC_000007.14:106016024:G:A p.(Ala388Thr) NC_000007.14:106016024:G:A Identity +NM_001378891.1:c.2965T>G NP_001365820.1:p.Leu989Val NC_000006.12:117365200:A:C p.(Leu989Val) NC_000006.12:117365200:A:C p.(Leu989Val) NC_000006.12:117365200:A:C Identity +NM_178857.6:c.5185G>A NP_849188.4:p.Gly1729Arg NC_000008.11:10608912:C:T p.(Gly1729Arg) NC_000008.11:10608912:C:T p.(Gly1729Arg) NC_000008.11:10608912:C:T Identity +NM_001410934.1:c.2978C>G NP_001397863.1:p.Thr993Ser NC_000008.11:76708010:C:G p.(Thr993Ser) NC_000008.11:76708010:C:G p.(Thr993Ser) NC_000008.11:76708010:C:G Identity +NM_001142301.1:c.259G>A NP_001135773.1:p.Asp87Asn NC_000008.11:93763936:G:A p.(Asp87Asn) NC_000008.11:93763936:G:A p.(Asp87Asn) NC_000008.11:93763936:G:A Identity +NM_017864.4:c.1636A>T NP_060334.2:p.Asn546Tyr NC_000008.11:94851680:A:T p.(Asn546Tyr) NC_000008.11:94851680:A:T p.(Asn546Tyr) NC_000008.11:94851680:A:T Identity +NM_170606.3:c.2749G>A NP_733751.2:p.Gly917Arg NC_000007.14:152235836:C:T p.(Gly917Arg) NC_000007.14:152235836:C:T p.(Gly917Arg) NC_000007.14:152235836:C:T Identity +NM_001144663.2:c.821T>C NP_001138135.1:p.Val274Ala NC_000008.11:94170947:A:G p.(Val274Ala) NC_000008.11:94170947:A:G p.(Val274Ala) NC_000008.11:94170947:A:G Identity +NM_194313.4:c.1697C>T NP_919289.2:p.Ser566Phe NC_000009.12:34257909:G:A p.(Ser566Phe) NC_000009.12:34257909:G:A p.(Ser566Phe) NC_000009.12:34257909:G:A Identity +NM_001393379.1:c.845C>T NP_001380308.1:p.Thr282Met NC_000009.12:39177399:G:A p.(Thr282Met) NC_000009.12:39177399:G:A p.(Thr282Met) NC_000009.12:39177399:G:A Identity +NM_000498.3:c.1279C>T NP_000489.3:p.Arg427Cys NC_000008.11:142912648:G:A p.(Arg427Cys) NC_000008.11:142912648:G:A p.(Arg427Cys) NC_000008.11:142912648:G:A Identity +NM_001347997.2:c.181T>A NP_001334926.1:p.Ser61Thr NC_000009.12:106923563:T:A p.(Ser61Thr) NC_000009.12:106923563:T:A p.(Ser61Thr) NC_000009.12:106923563:T:A Identity +NM_000550.3:c.469C>T NP_000541.1:p.Pro157Ser NC_000009.12:12695597:C:T p.(Pro157Ser) NC_000009.12:12695597:C:T p.(Pro157Ser) NC_000009.12:12695597:C:T Identity +NM_001001923.1:c.754G>A NP_001001923.1:p.Val252Met NC_000009.12:122789685:G:A p.(Val252Met) NC_000009.12:122789685:G:A p.(Val252Met) NC_000009.12:122789685:G:A Identity +NM_006080.3:c.1543C>T NP_006071.1:p.His515Tyr NC_000007.14:83981429:G:A p.(His515Tyr) NC_000007.14:83981429:G:A p.(His515Tyr) NC_000007.14:83981429:G:A Identity +NM_001282716.1:c.3409C>G NP_001269645.1:p.Gln1137Glu NC_000007.14:100211180:C:G p.(Gln1137Glu) NC_000007.14:100211180:C:G p.(Gln1137Glu) NC_000007.14:100211180:C:G Identity +NM_001272003.2:c.1723G>A NP_001258932.1:p.Asp575Asn NC_000009.12:135770944:G:A p.(Asp575Asn) NC_000009.12:135770944:G:A p.(Asp575Asn) NC_000009.12:135770944:G:A Identity +NM_001139466.1:c.1576G>A NP_001132938.1:p.Asp526Asn NC_000023.11:9711746:G:A p.(Asp526Asn) NC_000023.11:9711746:G:A p.(Asp526Asn) NC_000023.11:9711746:G:A Identity +NM_001122608.3:c.704A>G NP_001116080.1:p.Asn235Ser NC_000023.11:11121706:A:G p.(Asn235Ser) NC_000023.11:11121706:A:G p.(Asn235Ser) NC_000023.11:11121706:A:G Identity +NM_001282628.2:c.20G>A NP_001269557.1:p.Arg7Lys NC_000023.11:2959680:C:T p.(Arg7Lys) NC_000023.11:2959680:C:T p.(Arg7Lys) NC_000023.11:2959680:C:T Identity +NM_001031739.3:c.427A>G NP_001026909.1:p.Arg143Gly NC_000023.11:15252259:T:C p.(Arg143Gly) NC_000023.11:15252259:T:C p.(Arg143Gly) NC_000023.11:15252259:T:C Identity +NM_001122670.2:c.686A>G NP_001116142.1:p.His229Arg NC_000023.11:72667405:T:C p.(His229Arg) NC_000023.11:72667405:T:C p.(His229Arg) NC_000023.11:72667405:T:C Identity +NM_003970.4:c.3320G>C NP_003961.3:p.Gly1107Ala NC_000008.11:2116098:G:C p.(Gly1107Ala) NC_000008.11:2116098:G:C p.(Gly1107Ala) NC_000008.11:2116098:G:C Identity +NM_032777.10:c.3437T>C NP_116166.9:p.Val1146Ala NC_000008.11:37841774:T:C p.(Val1146Ala) NC_000008.11:37841774:T:C p.(Val1146Ala) NC_000008.11:37841774:T:C Identity +NM_031308.4:c.5122G>A NP_112598.3:p.Gly1708Ser NC_000008.11:143868131:C:T p.(Gly1708Ser) NC_000008.11:143868131:C:T p.(Gly1708Ser) NC_000008.11:143868131:C:T Identity +NM_001024455.4:c.754G>A NP_001019626.1:p.Gly252Ser NC_000023.11:72130786:C:T p.(Gly252Ser) NC_000023.11:72130786:C:T p.(Gly252Ser) NC_000023.11:72130786:C:T Identity +NM_001008537.3:c.3321C>G NP_001008537.1:p.Asp1107Glu NC_000023.11:74741235:G:C p.(Asp1107Glu) NC_000023.11:74741235:G:C p.(Asp1107Glu) NC_000023.11:74741235:G:C Identity +NM_001448.3:c.205C>G NP_001439.2:p.Gln69Glu NC_000023.11:133339296:G:C p.(Gln69Glu) NC_000023.11:133339296:G:C p.(Gln69Glu) NC_000023.11:133339296:G:C Identity +NM_001170628.1:c.26C>T NP_001164099.1:p.Ala9Val NC_000023.11:148719205:C:T p.(Ala9Val) NC_000023.11:148719205:C:T p.(Ala9Val) NC_000023.11:148719205:C:T Identity +NM_012162.4:c.662G>T NP_036294.2:p.Arg221Leu NC_000008.11:144357098:C:A p.(Arg221Leu) NC_000008.11:144357098:C:A p.(Arg221Leu) NC_000008.11:144357098:C:A Identity +NM_001371223.1:c.2536T>G NP_001358152.1:p.Tyr846Asp NC_000009.12:37744567:T:G p.(Tyr846Asp) NC_000009.12:37744567:T:G p.(Tyr846Asp) NC_000009.12:37744567:T:G Identity +NM_001145196.1:c.3780T>G NP_001138668.1:p.Tyr1260Ter NC_000009.12:42189481:T:G p.(Tyr1260Ter) NC_000009.12:42189481:T:G p.(Tyr1260Ter) NC_000009.12:42189481:T:G Identity +NM_001099679.2:c.452A>C NP_001093149.1:p.Glu151Ala NC_000009.12:116698193:A:C p.(Glu151Ala) NC_000009.12:116698193:A:C p.(Glu151Ala) NC_000009.12:116698193:A:C Identity +NM_014008.5:c.320G>A NP_054727.1:p.Arg107His NC_000023.11:49242106:G:A p.(Arg107His) NC_000023.11:49242106:G:A p.(Arg107His) NC_000023.11:49242106:G:A Identity +NM_001159296.2:c.421C>T NP_001152768.1:p.Pro141Ser NC_000023.11:56265518:C:T p.(Pro141Ser) NC_000023.11:56265518:C:T p.(Pro141Ser) NC_000023.11:56265518:C:T Identity +NM_001142797.2:c.1016G>A NP_001136269.1:p.Arg339Gln NC_000023.11:71616596:C:T p.(Arg339Gln) NC_000023.11:71616596:C:T p.(Arg339Gln) NC_000023.11:71616596:C:T Identity +NM_015419.4:c.2560G>A NP_056234.2:p.Val854Ile NC_000023.11:3323124:C:T p.(Val854Ile) NC_000023.11:3323124:C:T p.(Val854Ile) NC_000023.11:3323124:C:T Identity +NM_001142389.2:c.23T>C NP_001135861.1:p.Phe8Ser NC_000023.11:7926096:A:G p.(Phe8Ser) NC_000023.11:7926096:A:G p.(Phe8Ser) NC_000023.11:7926096:A:G Identity +NM_139058.3:c.134G>T NP_620689.1:p.Gly45Val NC_000023.11:25015603:C:A p.(Gly45Val) NC_000023.11:25015603:C:A p.(Gly45Val) NC_000023.11:25015603:C:A Identity +NM_000109.4:c.8806G>A NP_000100.3:p.Asp2936Asn NC_000023.11:31478212:C:T p.(Asp2936Asn) NC_000023.11:31478212:C:T p.(Asp2936Asn) NC_000023.11:31478212:C:T Identity +NM_001039590.3:c.4156G>A NP_001034679.2:p.Ala1386Thr NC_000023.11:41196660:G:A p.(Ala1386Thr) NC_000023.11:41196660:G:A p.(Ala1386Thr) NC_000023.11:41196660:G:A Identity +NM_001206524.2:c.910C>G NP_001193453.1:p.Leu304Val NC_000002.12:201209257:C:G p.(Leu304Val) NC_000002.12:201209257:C:G p.(Leu304Val) NC_000002.12:201209257:C:G Identity +NM_000489.6:c.5557C>T NP_000480.3:p.His1853Tyr NC_000023.11:77616621:G:A p.(His1853Tyr) NC_000023.11:77616621:G:A p.(His1853Tyr) NC_000023.11:77616621:G:A Identity +NM_001291540.2:c.230C>T NP_001278469.1:p.Thr77Ile NC_000023.11:135865912:G:A p.(Thr77Ile) NC_000023.11:135865912:G:A p.(Thr77Ile) NC_000023.11:135865912:G:A Identity +NM_001171184.2:c.449G>A NP_001164655.1:p.Arg150Gln NC_000023.11:101241790:G:A p.(Arg150Gln) NC_000023.11:101241790:G:A p.(Arg150Gln) NC_000023.11:101241790:G:A Identity +NM_022370.4:c.2704G>A NP_071765.2:p.Gly902Arg NC_000011.10:124876384:G:A p.(Gly902Arg) NC_000011.10:124876384:G:A p.(Gly902Arg) NC_000011.10:124876384:G:A Identity +NM_001039590.3:c.3712G>A NP_001034679.2:p.Val1238Ile NC_000023.11:41188018:G:A p.(Val1238Ile) NC_000023.11:41188018:G:A p.(Val1238Ile) NC_000023.11:41188018:G:A Identity +NM_001305878.2:c.557C>G NP_001292807.1:p.Ser186Cys NC_000008.11:42048420:G:C p.(Ser186Cys) NC_000008.11:42048420:G:C p.(Ser186Cys) NC_000008.11:42048420:G:C Identity +NM_001170961.2:c.3058G>T NP_001164432.1:p.Gly1020Ter NC_000023.11:131275618:C:A p.(Gly1020Ter) NC_000023.11:131275618:C:A p.(Gly1020Ter) NC_000023.11:131275618:C:A Identity +NM_005462.5:c.718T>G NP_005453.2:p.Ser240Ala NC_000023.11:141906121:T:G p.(Ser240Ala) NC_000023.11:141906121:T:G p.(Ser240Ala) NC_000023.11:141906121:T:G Identity +NM_001139441.1:c.41C>G NP_001132913.1:p.Ala14Gly NC_000023.11:153723203:G:C p.(Ala14Gly) NC_000023.11:153723203:G:C p.(Ala14Gly) NC_000023.11:153723203:G:C Identity +NM_001163257.2:c.4210C>T NP_001156729.1:p.Leu1404Phe NC_000023.11:153775088:C:T p.(Leu1404Phe) NC_000023.11:153775088:C:T p.(Leu1404Phe) NC_000023.11:153775088:C:T Identity +NM_001351527.2:c.2267A>G NP_001338456.1:p.Glu756Gly NC_000009.12:132329330:T:C p.(Glu756Gly) NC_000009.12:132329330:T:C p.(Glu756Gly) NC_000009.12:132329330:T:C Identity +NM_003221.4:c.1333_1334del NP_003212.2:p.Glu445fs NC_000006.12:50843341:GA: p.(Glu445ArgfsTer4) NC_000006.12:50843341:GA: p.(Glu445ArgfsTer4) NC_000006.12:50843341:GA: Analogous +NM_001256850.1:c.63121G>C NP_001243779.1:p.Glu21041Gln NC_000002.12:178578985:C:G p.(Glu21041Gln) NC_000002.12:178578985:C:G p.(Glu21041Gln) NC_000002.12:178578985:C:G Identity +NM_001493.3:c.671A>G NP_001484.1:p.Tyr224Cys NC_000023.11:154440457:A:G p.(Tyr224Cys) NC_000023.11:154440457:A:G p.(Tyr224Cys) NC_000023.11:154440457:A:G Identity +NM_001128228.3:c.2024C>G NP_001121700.2:p.Ala675Gly NC_000009.12:137192307:G:C p.(Ala675Gly) NC_000009.12:137192307:G:C p.(Ala675Gly) NC_000009.12:137192307:G:C Identity +NM_001136033.3:c.892G>A NP_001129505.1:p.Gly298Arg NC_000008.11:143817453:C:T p.(Gly298Arg) NC_000008.11:143817453:C:T p.(Gly298Arg) NC_000008.11:143817453:C:T Identity +NM_001149.4:c.2521A>G NP_001140.2:p.Arg841Gly NC_000010.11:60059376:T:C p.(Arg841Gly) NC_000010.11:60059376:T:C p.(Arg841Gly) NC_000010.11:60059376:T:C Identity +NM_005982.4:c.502G>A NP_005973.1:p.Val168Ile NC_000014.9:60648687:C:T p.(Val168Ile) NC_000014.9:60648687:C:T p.(Val168Ile) NC_000014.9:60648687:C:T Identity +NM_001321079.2:c.917G>A NP_001308008.1:p.Arg306Gln NC_000017.11:42718485:C:T p.(Arg306Gln) NC_000017.11:42718485:C:T p.(Arg306Gln) NC_000017.11:42718485:C:T Identity +NM_000404.4:c.825T>A NP_000395.3:p.Asp275Glu NC_000003.12:33051971:A:T p.(Asp275Glu) NC_000003.12:33051971:A:T p.(Asp275Glu) NC_000003.12:33051971:A:T Identity +NM_002180.3:c.1511A>G NP_002171.2:p.Glu504Gly NC_000011.10:68933886:A:G p.(Glu504Gly) NC_000011.10:68933886:A:G p.(Glu504Gly) NC_000011.10:68933886:A:G Identity +NM_001164317.2:c.4927G>C NP_001157789.1:p.Gly1643Arg NC_000003.12:58136140:G:C p.(Gly1643Arg) NC_000003.12:58136140:G:C p.(Gly1643Arg) NC_000003.12:58136140:G:C Identity +NM_015057.5:c.5282T>C NP_055872.4:p.Phe1761Ser NC_000013.11:77177805:A:G p.(Phe1761Ser) NC_000013.11:77177805:A:G p.(Phe1761Ser) NC_000013.11:77177805:A:G Identity +NM_001300899.2:c.2165T>C NP_001287828.1:p.Met722Thr NC_000006.12:75879906:T:C p.(Met722Thr) NC_000006.12:75879906:T:C p.(Met722Thr) NC_000006.12:75879906:T:C Identity +NM_001272003.2:c.179A>C NP_001258932.1:p.Asn60Thr NC_000009.12:135750165:A:C p.(Asn60Thr) NC_000009.12:135750165:A:C p.(Asn60Thr) NC_000009.12:135750165:A:C Identity +NM_000163.5:c.579A>T NP_000154.1:p.Glu193Asp NC_000005.10:42699962:A:T p.(Glu193Asp) NC_000005.10:42699962:A:T p.(Glu193Asp) NC_000005.10:42699962:A:T Identity +NM_000296.4:c.11890C>A NP_000287.4:p.Arg3964Ser NC_000016.10:2090993:G:T p.(Arg3964Ser) NC_000016.10:2090993:G:T p.(Arg3964Ser) NC_000016.10:2090993:G:T Identity +NM_005120.3:c.3775G>A NP_005111.2:p.Gly1259Ser NC_000023.11:71129762:G:A p.(Gly1259Ser) NC_000023.11:71129762:G:A p.(Gly1259Ser) NC_000023.11:71129762:G:A Identity +NM_001001890.3:c.688A>G NP_001001890.1:p.Thr230Ala NC_000021.9:34834445:T:C p.(Thr230Ala) NC_000021.9:34834445:T:C p.(Thr230Ala) NC_000021.9:34834445:T:C Identity +NM_007118.4:c.1352A>T NP_009049.2:p.His451Leu NC_000005.10:14297246:A:T p.(His451Leu) NC_000005.10:14297246:A:T p.(His451Leu) NC_000005.10:14297246:A:T Identity +NM_001204961.2:c.898G>A NP_001191890.1:p.Glu300Lys NC_000001.11:164812049:G:A p.(Glu300Lys) NC_000001.11:164812049:G:A p.(Glu300Lys) NC_000001.11:164812049:G:A Identity +NM_001080424.2:c.1250C>T NP_001073893.1:p.Pro417Leu NC_000017.11:7847444:C:T p.(Pro417Leu) NC_000017.11:7847444:C:T p.(Pro417Leu) NC_000017.11:7847444:C:T Identity +NM_004667.6:c.10295C>T NP_004658.3:p.Ser3432Phe NC_000015.10:28168524:G:A p.(Ser3432Phe) NC_000015.10:28168524:G:A p.(Ser3432Phe) NC_000015.10:28168524:G:A Identity +NM_001350236.2:c.1000del NP_001337165.1:p.Leu334fs NC_000011.10:126345573:CCCCC:CCCC p.(Leu334CysfsTer77) NC_000011.10:126345573:CCCCC:CCCC p.(Leu334CysfsTer77) NC_000011.10:126345577:C: Analogous +NM_001395191.1:c.638T>A NP_001382120.1:p.Ile213Asn NC_000005.10:179617614:A:T p.(Ile213Asn) NC_000005.10:179617614:A:T p.(Ile213Asn) NC_000005.10:179617614:A:T Identity +NM_001168249.1:c.1936C>G NP_001161721.1:p.Arg646Gly NC_000001.11:102995999:G:C ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001321978.2:c.248A>G NP_001308907.1:p.Asp83Gly NC_000010.11:26705305:A:G p.(Asp83Gly) NC_000010.11:26705305:A:G p.(Asp83Gly) NC_000010.11:26705305:A:G Identity +NM_001142763.2:c.5567C>T NP_001136235.1:p.Thr1856Met NC_000010.11:53822179:G:A p.(Thr1856Met) NC_000010.11:53822179:G:A p.(Thr1856Met) NC_000010.11:53822179:G:A Identity +NM_001379245.1:c.115G>T NP_001366174.1:p.Gly39Cys NC_000013.11:34942934:G:T p.(Gly39Cys) NC_000013.11:34942934:G:T p.(Gly39Cys) NC_000013.11:34942934:G:T Identity +NM_001172895.1:c.191C>T NP_001166366.1:p.Thr64Met NC_000007.14:116559033:C:T p.(Thr64Met) NC_000007.14:116559033:C:T p.(Thr64Met) NC_000007.14:116559033:C:T Identity +NM_001035.3:c.6490G>A NP_001026.2:p.Ala2164Thr NC_000001.11:237631475:G:A p.(Ala2164Thr) NC_000001.11:237631475:G:A p.(Ala2164Thr) NC_000001.11:237631475:G:A Identity +NM_001999.4:c.4274G>A NP_001990.2:p.Cys1425Tyr NC_000005.10:128330643:C:T p.(Cys1425Tyr) NC_000005.10:128330643:C:T p.(Cys1425Tyr) NC_000005.10:128330643:C:T Identity +NM_017807.4:c.118T>C NP_060277.1:p.Phe40Leu NC_000014.9:20452445:A:G p.(Phe40Leu) NC_000014.9:20452445:A:G p.(Phe40Leu) NC_000014.9:20452445:A:G Identity +NM_001387438.1:c.1008C>G NP_001374367.1:p.Cys336Trp NC_000019.10:18868707:G:C p.(Cys336Trp) NC_000019.10:18868707:G:C p.(Cys336Trp) NC_000019.10:18868707:G:C Identity +NM_001203247.2:c.2000T>G NP_001190176.1:p.Phe667Cys NC_000007.14:148810346:A:C p.(Phe667Cys) NC_000007.14:148810346:A:C p.(Phe667Cys) NC_000007.14:148810346:A:C Identity +NM_001040439.2:c.580G>A NP_001035529.1:p.Glu194Lys NC_000016.10:1729555:G:A p.(Glu194Lys) NC_000016.10:1729555:G:A p.(Glu194Lys) NC_000016.10:1729555:G:A Identity +NM_000129.4:c.601G>A NP_000120.2:p.Glu201Lys NC_000006.12:6250899:C:T p.(Glu201Lys) NC_000006.12:6250899:C:T p.(Glu201Lys) NC_000006.12:6250899:C:T Identity +NM_001378418.1:c.5006C>G NP_001365347.1:p.Ser1669Ter NC_000022.11:42210299:G:C p.(Ser1669Ter) NC_000022.11:42210299:G:C p.(Ser1669Ter) NC_000022.11:42210299:G:C Identity +NM_001321309.2:c.2042G>A NP_001308238.1:p.Gly681Glu NC_000003.12:123700897:C:T p.(Gly681Glu) NC_000003.12:123700897:C:T p.(Gly681Glu) NC_000003.12:123700897:C:T Identity +NM_006345.4:c.638G>A NP_006336.3:p.Arg213Lys NC_000004.12:42035301:G:A p.(Arg213Lys) NC_000004.12:42035301:G:A p.(Arg213Lys) NC_000004.12:42035301:G:A Identity +NM_001145444.1:c.1412_1413del NP_001138916.1:p.Lys471fs NC_000021.9:31693348:TTTTT:TTT p.(Lys471ArgfsTer49) NC_000021.9:31693348:TTTTT:TTT p.(Lys471ArgfsTer49) NC_000021.9:31693348:TT: Analogous +NM_000512.5:c.1374dup NP_000503.1:p.Ala459fs NC_000016.10:88818114:G:GG p.(Ala459ArgfsTer44) NC_000016.10:88818114:G:GG p.(Ala459ArgfsTer44) ERR:SPDI Analogous +NM_001351527.2:c.6635C>G NP_001338456.1:p.Pro2212Arg NC_000009.12:132281485:G:C p.(Pro2212Arg) NC_000009.12:132281485:G:C p.(Pro2212Arg) NC_000009.12:132281485:G:C Identity +NM_001025356.3:c.1622G>A NP_001020527.2:p.Arg541Lys NC_000012.12:45403080:G:A p.(Arg541Lys) NC_000012.12:45403080:G:A p.(Arg541Lys) NC_000012.12:45403080:G:A Identity +NM_006766.5:c.4571T>C NP_006757.2:p.Met1524Thr NC_000008.11:41933648:A:G p.(Met1524Thr) NC_000008.11:41933648:A:G p.(Met1524Thr) NC_000008.11:41933648:A:G Identity +NM_003076.5:c.449dup NP_003067.3:p.Ala152fs NC_000012.12:50086795:T:TT p.(Ala152GlyfsTer3) NC_000012.12:50086795:T:TT p.(Ala152GlyfsTer3) ERR:SPDI Analogous +NM_001001890.3:c.20C>G NP_001001890.1:p.Ala7Gly NC_000021.9:34887092:G:C p.(Ala7Gly) NC_000021.9:34887092:G:C p.(Ala7Gly) NC_000021.9:34887092:G:C Identity +NM_001256944.2:c.295T>G NP_001243873.1:p.Phe99Val NC_000023.11:10206378:T:G p.(Phe99Val) NC_000023.11:10206378:T:G p.(Phe99Val) NC_000023.11:10206378:T:G Identity +NM_017934.7:c.5078A>G NP_060404.4:p.Asn1693Ser NC_000006.12:78941080:T:C p.(Asn1693Ser) NC_000006.12:78941080:T:C p.(Asn1693Ser) NC_000006.12:78941080:T:C Identity +NM_004114.5:c.127T>G NP_004105.1:p.Leu43Val NC_000023.11:138710876:A:C p.(Leu43Val) NC_000023.11:138710876:A:C p.(Leu43Val) NC_000023.11:138710876:A:C Identity +NM_001318066.2:c.1727G>C NP_001304995.1:p.Gly576Ala NC_000004.12:118745043:C:G p.(Gly576Ala) NC_000004.12:118745043:C:G p.(Gly576Ala) NC_000004.12:118745043:C:G Identity +NM_001265612.2:c.4102C>T NP_001252541.1:p.His1368Tyr NC_000016.10:58545380:G:A p.(His1368Tyr) NC_000016.10:58545380:G:A p.(His1368Tyr) NC_000016.10:58545380:G:A Identity +NM_004501.3:c.1004T>C NP_004492.2:p.Ile335Thr NC_000001.11:244859330:A:G p.(Ile335Thr) NC_000001.11:244859330:A:G p.(Ile335Thr) NC_000001.11:244859330:A:G Identity +NM_001040142.2:c.527C>T NP_001035232.1:p.Ala176Val NC_000002.12:165308715:C:T p.(Ala176Val) NC_000002.12:165308715:C:T p.(Ala176Val) NC_000002.12:165308715:C:T Identity +NM_000296.4:c.11382G>T NP_000287.4:p.Trp3794Cys NC_000016.10:2092072:C:A p.(Trp3794Cys) NC_000016.10:2092072:C:A p.(Trp3794Cys) NC_000016.10:2092072:C:A Identity +NM_005450.6:c.553T>C NP_005441.1:p.Ser185Pro NC_000017.11:56594775:T:C p.(Ser185Pro) NC_000017.11:56594775:T:C p.(Ser185Pro) NC_000017.11:56594775:T:C Identity +NM_001149.4:c.782C>T NP_001140.2:p.Thr261Met NC_000010.11:60088306:G:A p.(Thr261Met) NC_000010.11:60088306:G:A p.(Thr261Met) NC_000010.11:60088306:G:A Identity +NM_014845.6:c.837T>G NP_055660.1:p.Phe279Leu NC_000006.12:109741504:T:G p.(Phe279Leu) NC_000006.12:109741504:T:G p.(Phe279Leu) NC_000006.12:109741504:T:G Identity +NM_000465.4:c.1252C>T NP_000456.2:p.Pro418Ser NC_000002.12:214780621:G:A p.(Pro418Ser) NC_000002.12:214780621:G:A p.(Pro418Ser) NC_000002.12:214780621:G:A Identity +NM_001184751.2:c.1147A>G NP_001171680.1:p.Ser383Gly NC_000011.10:46704870:A:G p.(Ser383Gly) NC_000011.10:46704870:A:G p.(Ser383Gly) NC_000011.10:46704870:A:G Identity +NM_000220.6:c.298T>C NP_000211.1:p.Tyr100His NC_000011.10:128840002:A:G p.(Tyr100His) NC_000011.10:128840002:A:G p.(Tyr100His) NC_000011.10:128840002:A:G Identity +NM_000268.4:c.447G>T NP_000259.1:p.Lys149Asn NC_000022.11:29642284:G:T p.(Lys149Asn) NC_000022.11:29642284:G:T p.(Lys149Asn) NC_000022.11:29642284:G:T Identity +NM_001319294.2:c.997A>T NP_001306223.1:p.Asn333Tyr NC_000001.11:215601929:A:T p.(Asn333Tyr) NC_000001.11:215601929:A:T p.(Asn333Tyr) NC_000001.11:215601929:A:T Identity +NM_000298.6:c.823G>C NP_000289.1:p.Gly275Arg NC_000001.11:155294623:C:G p.(Gly275Arg) NC_000001.11:155294623:C:G p.(Gly275Arg) NC_000001.11:155294623:C:G Identity +NM_001318496.2:c.74C>A NP_001305425.1:p.Ser25Ter NC_000011.10:67522698:G:T p.(Ser25Ter) NC_000011.10:67522698:G:T p.(Ser25Ter) NC_000011.10:67522698:G:T Identity +NM_000492.4:c.1579G>T NP_000483.3:p.Glu527Ter NC_000007.14:117559649:G:T p.(Glu527Ter) NC_000007.14:117559649:G:T p.(Glu527Ter) NC_000007.14:117559649:G:T Identity +NM_001354989.2:c.3109G>A NP_001341918.1:p.Asp1037Asn NC_000005.10:180616476:C:T p.(Asp1037Asn) NC_000005.10:180616476:C:T p.(Asp1037Asn) NC_000005.10:180616476:C:T Identity +NM_001384158.1:c.494A>C NP_001371087.1:p.Gln165Pro NC_000014.9:91936954:T:G p.(Gln165Pro) NC_000014.9:91936954:T:G p.(Gln165Pro) NC_000014.9:91936954:T:G Identity +NM_000478.6:c.1225C>T NP_000469.3:p.Pro409Ser NC_000001.11:21576556:C:T p.(Pro409Ser) NC_000001.11:21576556:C:T p.(Pro409Ser) NC_000001.11:21576556:C:T Identity +NM_001032221.6:c.748C>A NP_001027392.1:p.Gln250Lys NC_000009.12:127666249:C:A p.(Gln250Lys) NC_000009.12:127666249:C:A p.(Gln250Lys) NC_000009.12:127666249:C:A Identity +NM_001184824.4:c.1502G>A NP_001171753.1:p.Arg501His NC_000016.10:68355723:G:A p.(Arg501His) NC_000016.10:68355723:G:A p.(Arg501His) NC_000016.10:68355723:G:A Identity +NM_005477.3:c.3392G>A NP_005468.1:p.Ser1131Asn NC_000015.10:73322700:C:T p.(Ser1131Asn) NC_000015.10:73322700:C:T p.(Ser1131Asn) NC_000015.10:73322700:C:T Identity +NM_020759.3:c.11959C>T NP_065810.2:p.Gln3987Ter NC_000015.10:42693536:C:T p.(Gln3987Ter) NC_000015.10:42693536:C:T p.(Gln3987Ter) NC_000015.10:42693536:C:T Identity +NM_001306129.2:c.794G>A NP_001293058.2:p.Arg265Gln NC_000002.12:215428229:C:T p.(Arg265Gln) NC_000002.12:215428229:C:T p.(Arg265Gln) NC_000002.12:215428229:C:T Identity +NM_000334.4:c.1534A>G NP_000325.4:p.Thr512Ala NC_000017.11:63963743:T:C p.(Thr512Ala) NC_000017.11:63963743:T:C p.(Thr512Ala) NC_000017.11:63963743:T:C Identity +NM_001160130.2:c.2748C>A NP_001153602.1:p.Ser916Arg NC_000006.12:73195389:C:A p.(Ser916Arg) NC_000006.12:73195389:C:A p.(Ser916Arg) NC_000006.12:73195389:C:A Identity +NM_001316772.1:c.556G>C NP_001303701.1:p.Glu186Gln NC_000007.14:30603554:G:C p.(Glu186Gln) NC_000007.14:30603554:G:C p.(Glu186Gln) NC_000007.14:30603554:G:C Identity +NM_001031726.4:c.161_170dup NP_001026896.3:p.Leu60fs NC_000019.10:29702967:ACAGCCCCCC:ACAGCCCCCCACAGCCCCCC p.(Leu60CysfsTer15) NC_000019.10:29702967:ACAGCCCCCC:ACAGCCCCCCACAGCCCCCC p.(Leu60CysfsTer15) ERR:SPDI Analogous +NM_000065.5:c.1628_1629dup NP_000056.2:p.Gln544fs NC_000005.10:41160196:ACACACACACA:ACACACACACACA p.(Gln544ValfsTer22) NC_000005.10:41160196:ACACACACACA:ACACACACACACA p.(Gln544ValfsTer22) ERR:SPDI Analogous +NM_001164342.2:c.1643C>T NP_001157814.1:p.Ser548Leu NC_000003.12:114350434:G:A p.(Ser548Leu) NC_000003.12:114350434:G:A p.(Ser548Leu) NC_000003.12:114350434:G:A Identity +NM_001363711.2:c.4240A>T NP_001350640.1:p.Ile1414Phe NC_000015.10:45095090:T:A p.(Ile1414Phe) NC_000015.10:45095090:T:A p.(Ile1414Phe) NC_000015.10:45095090:T:A Identity +NM_000478.6:c.244G>C NP_000469.3:p.Gly82Arg NC_000001.11:21561158:G:C p.(Gly82Arg) NC_000001.11:21561158:G:C p.(Gly82Arg) NC_000001.11:21561158:G:C Identity +NM_016148.5:c.5324G>T NP_057232.2:p.Gly1775Val NC_000019.10:50666635:C:A p.(Gly1775Val) NC_000019.10:50666635:C:A p.(Gly1775Val) NC_000019.10:50666635:C:A Identity +NM_000937.5:c.493G>A NP_000928.1:p.Gly165Ser NC_000017.11:7496568:G:A p.(Gly165Ser) NC_000017.11:7496568:G:A p.(Gly165Ser) NC_000017.11:7496568:G:A Identity +NM_001394201.1:c.1063C>T NP_001381130.1:p.Arg355Cys NC_000009.12:136388503:G:A p.(Arg355Cys) NC_000009.12:136388503:G:A p.(Arg355Cys) NC_000009.12:136388503:G:A Identity +NM_020754.4:c.3635T>C NP_065805.2:p.Ile1212Thr NC_000003.12:119415563:T:C p.(Ile1212Thr) NC_000003.12:119415563:T:C p.(Ile1212Thr) NC_000003.12:119415563:T:C Identity +NM_000138.5:c.6883T>A NP_000129.3:p.Cys2295Ser NC_000015.10:48428459:A:T p.(Cys2295Ser) NC_000015.10:48428459:A:T p.(Cys2295Ser) NC_000015.10:48428459:A:T Identity +NM_000651.6:c.2365C>A NP_000642.3:p.Arg789Ser NC_000001.11:207545435:C:A p.(Arg789Ser) NC_000001.11:207545435:C:A p.(Arg789Ser) NC_000001.11:207545435:C:A Identity +NM_001166058.2:c.779A>G NP_001159530.1:p.Asn260Ser NC_000013.11:31778576:A:G p.(Asn260Ser) NC_000013.11:31778576:A:G p.(Asn260Ser) NC_000013.11:31778576:A:G Identity +NM_001272037.2:c.1390_1391insA NP_001258966.1:p.Phe464fs NC_000021.9:44509358::T p.(Phe464TyrfsTer26) NC_000021.9:44509357:A:T p.(Phe464TyrfsTer26) NC_000021.9:44509358:AA:T Analogous +NM_001034853.2:c.2610_2611del NP_001030025.1:p.Glu872fs NC_000023.11:38286387:CT: p.(Glu872GlyfsTer206) NC_000023.11:38286387:CT: p.(Glu872GlyfsTer206) NC_000023.11:38286387:CT: Analogous +NM_000628.5:c.25_43del NP_000619.3:p.Leu9fs NC_000021.9:33266484:GCTGGCTGGGTGGCTGCCTGCTGG:GCTGG p.(Leu9CysfsTer15) NC_000021.9:33266484:GCTGGCTGGGTGGCTGCCTGCTGG:GCTGG p.(Leu9CysfsTer15) NC_000021.9:33266489:CTGGGTGGCTGCCTGCTGG: Analogous +NM_000162.5:c.565A>G NP_000153.1:p.Ile189Val NC_000007.14:44149982:T:C p.(Ile189Val) NC_000007.14:44149982:T:C p.(Ile189Val) NC_000007.14:44149982:T:C Identity +NM_001846.4:c.287C>T NP_001837.2:p.Pro96Leu NC_000013.11:110424839:C:T p.(Pro96Leu) NC_000013.11:110424839:C:T p.(Pro96Leu) NC_000013.11:110424839:C:T Identity +NM_002609.4:c.151G>A NP_002600.1:p.Val51Ile NC_000005.10:150135767:C:T p.(Val51Ile) NC_000005.10:150135767:C:T p.(Val51Ile) NC_000005.10:150135767:C:T Identity +NM_001382394.1:c.1423G>C NP_001369323.1:p.Gly475Arg NC_000002.12:39022983:C:G p.(Gly475Arg) NC_000002.12:39022983:C:G p.(Gly475Arg) NC_000002.12:39022983:C:G Identity +NM_001100397.2:c.2423G>A NP_001093867.1:p.Arg808His NC_000002.12:173048600:G:A p.(Arg808His) NC_000002.12:173048600:G:A p.(Arg808His) NC_000002.12:173048600:G:A Identity +NM_001003800.2:c.170del NP_001003800.1:p.Leu57fs NC_000009.12:92764574:A: p.(Leu57ProfsTer47) NC_000009.12:92764574:A: p.(Leu57ProfsTer47) NC_000009.12:92764574:A: Analogous +NM_000875.5:c.2T>A NP_000866.1:p.Met1Lys NC_000015.10:98649582:T:A p.(Met1Lys) NC_000015.10:98649582:T:A p.Met1? NC_000015.10:98649582:T:A Identity +NM_001113378.2:c.3355G>T NP_001106849.1:p.Ala1119Ser NC_000015.10:89306011:G:T p.(Ala1119Ser) NC_000015.10:89306011:G:T p.(Ala1119Ser) NC_000015.10:89306011:G:T Identity +NM_001171087.3:c.2219C>T NP_001164558.1:p.Ala740Val NC_000003.12:184352443:G:A p.(Ala740Val) NC_000003.12:184352443:G:A p.(Ala740Val) NC_000003.12:184352443:G:A Identity +NM_005565.5:c.1279A>G NP_005556.1:p.Ile427Val NC_000005.10:170252477:T:C p.(Ile427Val) NC_000005.10:170252477:T:C p.(Ile427Val) NC_000005.10:170252477:T:C Identity +NM_020338.4:c.2617C>T NP_065071.1:p.Pro873Ser NC_000010.11:79306292:C:T p.(Pro873Ser) NC_000010.11:79306292:C:T p.(Pro873Ser) NC_000010.11:79306292:C:T Identity +NM_001282716.1:c.3272C>T NP_001269645.1:p.Ser1091Leu NC_000007.14:100211043:C:T p.(Ser1091Leu) NC_000007.14:100211043:C:T p.(Ser1091Leu) NC_000007.14:100211043:C:T Identity +NM_000264.5:c.1435_1436del NP_000255.2:p.Leu479fs NC_000009.12:95477613:AG: p.(Leu479ValfsTer17) NC_000009.12:95477613:AG: p.(Leu479ValfsTer17) NC_000009.12:95477613:AG: Analogous +NM_000251.3:c.1487dup NP_000242.1:p.Leu496fs NC_000002.12:47463129:TT:TTT p.(Leu496PhefsTer17) NC_000002.12:47463129:TT:TTT p.(Leu496PhefsTer17) ERR:SPDI Analogous +NM_001198999.2:c.1028G>T NP_001185928.1:p.Arg343Leu NC_000015.10:47764235:G:T p.(Arg343Leu) NC_000015.10:47764235:G:T p.(Arg343Leu) NC_000015.10:47764235:G:T Identity +NM_000179.3:c.3834dup NP_000170.1:p.Ser1279fs NC_000002.12:47806480:CCCC:CCCCC p.(Ser1279GlnfsTer10) NC_000002.12:47806480:CCCC:CCCCC p.(Ser1279GlnfsTer10) ERR:SPDI Analogous +NM_020435.4:c.32G>C NP_065168.2:p.Arg11Pro NC_000001.11:228157789:G:C p.(Arg11Pro) NC_000001.11:228157789:G:C p.(Arg11Pro) NC_000001.11:228157789:G:C Identity +NM_000243.3:c.638T>C NP_000234.1:p.Leu213Pro NC_000016.10:3254429:A:G p.(Leu213Pro) NC_000016.10:3254429:A:G p.(Leu213Pro) NC_000016.10:3254429:A:G Identity +NM_000492.4:c.3661_3662del NP_000483.3:p.Glu1221fs NC_000007.14:117627712:AGA:A p.(Glu1221ArgfsTer43) NC_000007.14:117627712:AGA:A p.(Glu1221ArgfsTer43) NC_000007.14:117627713:GA: Analogous +NM_000833.5:c.1783C>T NP_000824.1:p.His595Tyr NC_000016.10:9829646:G:A p.(His595Tyr) NC_000016.10:9829646:G:A p.(His595Tyr) NC_000016.10:9829646:G:A Identity +NM_030665.4:c.5711G>A NP_109590.3:p.Arg1904Lys NC_000017.11:17809970:G:A p.(Arg1904Lys) NC_000017.11:17809970:G:A p.(Arg1904Lys) NC_000017.11:17809970:G:A Identity +NM_001281492.2:c.451G>T NP_001268421.1:p.Gly151Ter NC_000002.12:47798823:G:T p.(Gly151Ter) NC_000002.12:47798823:G:T p.(Gly151Ter) NC_000002.12:47798823:G:T Identity +NM_000179.3:c.1263_1311dup NP_000170.1:p.Met438Ter NC_000002.12:47799245:TGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCAC:TGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCACTGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCAC p.(Met438Ter) NC_000002.12:47799245:TGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCAC:TGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCACTGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCAC p.(Met438Ter) ERR:SPDI Identity +NM_000179.3:c.1426_1427insGGGCCGTTATTCAGATTCCCTGGTGCAGA NP_000170.1:p.Lys476fs NC_000002.12:47799381:GGCCGTTATTCAGATTCCCTGGTGCAGA:GGCCGTTATTCAGATTCCCTGGTGCAGAGGGCCGTTATTCAGATTCCCTGGTGCAGA p.(Lys476ArgfsTer15) NC_000002.12:47799408:A:GGGCCGTTATTCAGATTCCCTGGTGCAGA p.(Lys476ArgfsTer15) NC_000002.12:47799409:AA:GGGCCGTTATTCAGATTCCCTGGTGCAGA Analogous +NM_000179.3:c.3587_3627dup NP_000170.1:p.Val1210fs NC_000002.12:47805645:TGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTG:TGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTG p.(Val1210LysfsTer20) NC_000002.12:47805645:TGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTG:TGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTGAAACTGCCAGCATACTCATGCATGCAACAGCACATTCTCTG p.(Val1210LysfsTer20) ERR:SPDI Analogous +NM_000179.3:c.1866_1887del NP_000170.1:p.Ile622fs NC_000002.12:47799845:GATACCCGGCTCCCAGTTTTGGGAT:GAT p.(Ile622MetfsTer6) NC_000002.12:47799845:GATACCCGGCTCCCAGTTTTGGGAT:GAT p.(Ile622MetfsTer6) NC_000002.12:47799848:ACCCGGCTCCCAGTTTTGGGAT: Analogous +NM_001048171.2:c.619del NP_001041636.2:p.Val207fs NC_000001.11:45332475:CC:C p.(Val207TrpfsTer5) NC_000001.11:45332475:CC:C p.(Val207TrpfsTer5) NC_000001.11:45332475:C: Analogous +NM_001410908.1:c.3942G>C NP_001397837.1:p.Lys1314Asn NC_000007.14:105110867:G:C p.(Lys1314Asn) NC_000007.14:105110867:G:C p.(Lys1314Asn) NC_000007.14:105110867:G:C Identity +NM_007013.4:c.1252C>T NP_008944.1:p.Arg418Ter NC_000008.11:86427736:C:T p.(Arg418Ter) NC_000008.11:86427736:C:T p.(Arg418Ter) NC_000008.11:86427736:C:T Identity +NM_001039802.2:c.227A>T NP_001034891.1:p.Asp76Val NC_000001.11:22086486:A:T p.(Asp76Val) NC_000001.11:22086486:A:T p.(Asp76Val) NC_000001.11:22086486:A:T Identity +NM_001010942.3:c.35G>T NP_001010942.1:p.Gly12Val NC_000012.12:68648758:G:T p.(Gly12Val) NC_000012.12:68648758:G:T p.(Gly12Val) NC_000012.12:68648758:G:T Identity +NM_000179.3:c.699_702dup NP_000170.1:p.Thr235Ter NC_000002.12:47798681:TAAG:TAAGTAAG p.(Thr235Ter) NC_000002.12:47798681:TAAG:TAAGTAAG p.(Thr235Ter) ERR:SPDI Identity +NM_001318193.2:c.34_53dup NP_001305122.2:p.Pro21fs NC_000016.10:2047770:CCGGGTCCCAGGCTCCGGCTCCGGGTC:CCGGGTCCCAGGCTCCGGCTCCGGGTCCCAGGCTCCGGCTCCGGGTC p.(Pro21AlafsTer34) NC_000016.10:2047770:CCGGGTCCCAGGCTCCGGCTCCGGGTC:CCGGGTCCCAGGCTCCGGCTCCGGGTCCCAGGCTCCGGCTCCGGGTC p.(Pro21AlafsTer34) ERR:SPDI Analogous +NM_001257357.2:c.2332T>C NP_001244286.1:p.Ser778Pro NC_000006.12:36722465:T:C p.(Ser778Pro) NC_000006.12:36722465:T:C p.(Ser778Pro) NC_000006.12:36722465:T:C Identity +NM_001407296.1:c.1236_1246del NP_001394225.1:p.His412fs NC_000016.10:23635239:TGACATCCAAATGAC:TGAC p.(His412GlnfsTer6) NC_000016.10:23635239:TGACATCCAAATGAC:TGAC p.(His412GlnfsTer6) NC_000016.10:23635239:TGACATCCAAA: Analogous +NM_000059.4:c.5879_5883del NP_000050.3:p.Cys1960fs NC_000013.11:32340232:TGTAGT:T p.(Cys1960TyrfsTer6) NC_000013.11:32340232:TGTAGT:T p.(Cys1960TyrfsTer6) NC_000013.11:32340233:GTAGT: Analogous +NM_000249.4:c.1543G>T NP_000240.1:p.Glu515Ter NC_000003.12:37028916:G:T p.(Glu515Ter) NC_000003.12:37028916:G:T p.(Glu515Ter) NC_000003.12:37028916:G:T Identity +NM_001407296.1:c.2595_2596insG NP_001394225.1:p.Cys866fs NC_000016.10:23626328::C p.(Cys866ValfsTer42) NC_000016.10:23626327:A:C p.(Cys866ValfsTer42) NC_000016.10:23626328:AT:C Analogous +NM_001170629.2:c.5365del NP_001164100.1:p.Ile1789fs NC_000014.9:21394936:TTT:TT p.(Ile1789LeufsTer47) NC_000014.9:21394936:TTT:TT p.(Ile1789LeufsTer47) NC_000014.9:21394936:T: Analogous +NM_000296.4:c.827C>T NP_000287.4:p.Thr276Ile NC_000016.10:2118164:G:A p.(Thr276Ile) NC_000016.10:2118164:G:A p.(Thr276Ile) NC_000016.10:2118164:G:A Identity +NM_000314.8:c.940del NP_000305.3:p.Glu314fs NC_000010.11:87961030:GG:G p.(Glu314AsnfsTer3) NC_000010.11:87961030:GG:G p.(Glu314AsnfsTer3) NC_000010.11:87961031:G: Analogous +NM_002439.5:c.1645C>T NP_002430.3:p.Gln549Ter NC_000005.10:80741539:C:T p.(Gln549Ter) NC_000005.10:80741539:C:T p.(Gln549Ter) NC_000005.10:80741539:C:T Identity +NM_000179.3:c.2622del NP_000170.1:p.Met875fs NC_000002.12:47800604:C: p.(Met875TrpfsTer31) NC_000002.12:47800604:C: p.(Met875TrpfsTer31) NC_000002.12:47800604:C: Analogous +NM_000179.3:c.901_902del NP_000170.1:p.Lys301fs NC_000002.12:47798883:AA: p.(Lys301GlufsTer10) NC_000002.12:47798883:AA: p.(Lys301GlufsTer10) NC_000002.12:47798883:AA: Analogous +NM_001363823.2:c.1232C>T NP_001350752.1:p.Thr411Ile NC_000002.12:32128468:C:T p.(Thr411Ile) NC_000002.12:32128468:C:T p.(Thr411Ile) NC_000002.12:32128468:C:T Identity +NM_178839.5:c.619G>A NP_849161.2:p.Gly207Ser NC_000002.12:80303200:C:T p.(Gly207Ser) NC_000002.12:80303200:C:T p.(Gly207Ser) NC_000002.12:80303200:C:T Identity +NM_001004426.3:c.1489G>A NP_001004426.1:p.Gly497Ser NC_000022.11:38120849:C:T p.(Gly497Ser) NC_000022.11:38120849:C:T p.(Gly497Ser) NC_000022.11:38120849:C:T Identity +NM_000535.7:c.221G>A NP_000526.2:p.Gly74Glu NC_000007.14:6004000:C:T p.(Gly74Glu) NC_000007.14:6004000:C:T p.(Gly74Glu) NC_000007.14:6004000:C:T Identity +NM_000314.8:c.243_245delinsAT NP_000305.3:p.Phe81fs NC_000010.11:87931078:TAA:AT p.(Asn82IlefsTer17) NC_000010.11:87931078:TAAT:TAT p.(Phe81LeufsTer18) NC_000010.11:87931078:TAA:AT Analogous +NM_000314.8:c.639_640dup NP_000305.3:p.Gln214fs NC_000010.11:87957855:CTC:CTCTC p.(Gln214LeufsTer8) NC_000010.11:87957855:CTC:CTCTC p.(Gln214LeufsTer8) ERR:SPDI Analogous +NM_000314.8:c.44_45delinsT NP_000305.3:p.Arg15fs NC_000010.11:87864512:GA:T p.(Arg15IlefsTer9) NC_000010.11:87864510:GAGA:GAT p.(Arg15IlefsTer9) NC_000010.11:87864512:GA:T Analogous +NM_000249.4:c.2236_2237insG NP_000240.1:p.Leu746fs NC_000003.12:37050618::G p.(Leu746ArgfsTer3) NC_000003.12:37050617:C:G p.(Leu746ArgfsTer3) NC_000003.12:37050618:CT:G Analogous +NM_000249.4:c.62del NP_000240.1:p.Ala21fs NC_000003.12:36993608:C: p.(Ala21GlyfsTer15) NC_000003.12:36993608:C: p.(Ala21GlyfsTer15) NC_000003.12:36993608:C: Analogous +NM_001407296.1:c.2760_2761del NP_001394225.1:p.Glu920fs NC_000016.10:23624021:TTT:T p.(Glu920AspfsTer12) NC_000016.10:23624021:TTT:T p.(Glu920AspfsTer12) NC_000016.10:23624021:TT: Analogous +NM_000535.7:c.2320_2321insT NP_000526.2:p.Lys774fs NC_000007.14:5977712::A p.(Lys774IlefsTer12) NC_000007.14:5977711:T:A p.(Lys774IlefsTer12) NC_000007.14:5977712:TT:A Analogous +NM_001407879.1:c.855del NP_001394808.1:p.Lys285fs NC_000017.11:43094465:C: p.(Lys285AsnfsTer19) NC_000017.11:43094465:C: p.(Lys285AsnfsTer19) NC_000017.11:43094465:C: Analogous +NM_002439.5:c.2243C>G NP_002430.3:p.Ser748Ter NC_000005.10:80768992:C:G p.(Ser748Ter) NC_000005.10:80768992:C:G p.(Ser748Ter) NC_000005.10:80768992:C:G Identity +NM_000179.3:c.898_899del NP_000170.1:p.Arg300fs NC_000002.12:47798879:GCG:G p.(Arg300GlufsTer11) NC_000002.12:47798879:GCG:G p.(Arg300GlufsTer11) NC_000002.12:47798880:CG: Analogous +NM_000179.3:c.685G>T NP_000170.1:p.Glu229Ter NC_000002.12:47798667:G:T p.(Glu229Ter) NC_000002.12:47798667:G:T p.(Glu229Ter) NC_000002.12:47798667:G:T Identity +NM_001407296.1:c.1608dup NP_001394225.1:p.Phe537fs NC_000016.10:23634877:T:TT p.(Phe537IlefsTer21) NC_000016.10:23634877:T:TT p.(Phe537IlefsTer21) ERR:SPDI Analogous +NM_000143.4:c.233dup NP_000134.2:p.Asn78fs NC_000001.11:241517215:TT:TTT p.(Asn78LysfsTer3) NC_000001.11:241517215:TT:TTT p.(Asn78LysfsTer3) ERR:SPDI Analogous +NM_001407296.1:c.3238_3247del NP_001394225.1:p.Thr1080fs NC_000016.10:23607906:CGCTGAGAGTCG:CG p.(Thr1080TrpfsTer3) NC_000016.10:23607906:CGCTGAGAGTCG:CG p.(Thr1080TrpfsTer3) NC_000016.10:23607906:CGCTGAGAGT: Analogous +NM_000314.8:c.416_419del NP_000305.3:p.Leu139fs NC_000010.11:87933170:TATTTATT:TATT p.(Leu139TyrfsTer7) NC_000010.11:87933170:TATTTATT:TATT p.(Leu139TyrfsTer7) NC_000010.11:87933174:TATT: Analogous +NM_000497.4:c.930A>T NP_000488.3:p.Glu310Asp NC_000008.11:142876264:T:A p.(Glu310Asp) NC_000008.11:142876264:T:A p.(Glu310Asp) NC_000008.11:142876264:T:A Identity +NM_000498.3:c.400G>A NP_000489.3:p.Gly134Arg NC_000008.11:142915240:C:T p.(Gly134Arg) NC_000008.11:142915240:C:T p.(Gly134Arg) NC_000008.11:142915240:C:T Identity +NM_000498.3:c.1120C>G NP_000489.3:p.Arg374Gly NC_000008.11:142913285:G:C p.(Arg374Gly) NC_000008.11:142913285:G:C p.(Arg374Gly) NC_000008.11:142913285:G:C Identity +NM_003742.4:c.65C>G NP_003733.2:p.Ser22Ter NC_000002.12:169018060:G:C p.(Ser22Ter) NC_000002.12:169018060:G:C p.(Ser22Ter) NC_000002.12:169018060:G:C Identity +NM_000251.3:c.2087C>G NP_000242.1:p.Pro696Arg NC_000002.12:47476447:C:G p.(Pro696Arg) NC_000002.12:47476447:C:G p.(Pro696Arg) NC_000002.12:47476447:C:G Identity +NM_000498.3:c.1190T>A NP_000489.3:p.Ile397Asn NC_000008.11:142912816:A:T p.(Ile397Asn) NC_000008.11:142912816:A:T p.(Ile397Asn) NC_000008.11:142912816:A:T Identity +NM_016222.4:c.214G>A NP_057306.2:p.Gly72Arg NC_000005.10:177516371:C:T p.(Gly72Arg) NC_000005.10:177516371:C:T p.(Gly72Arg) NC_000005.10:177516371:C:T Identity +NM_000108.5:c.943C>T NP_000099.2:p.Arg315Ter NC_000007.14:107916860:C:T p.(Arg315Ter) NC_000007.14:107916860:C:T p.(Arg315Ter) NC_000007.14:107916860:C:T Identity +NM_000400.4:c.402C>A NP_000391.1:p.Cys134Ter NC_000019.10:45365116:G:T p.(Cys134Ter) NC_000019.10:45365116:G:T p.(Cys134Ter) NC_000019.10:45365116:G:T Identity +NM_003659.4:c.288G>A NP_003650.1:p.Trp96Ter NC_000002.12:177420295:G:A p.(Trp96Ter) NC_000002.12:177420295:G:A p.(Trp96Ter) NC_000002.12:177420295:G:A Identity +NM_001164673.2:c.539del NP_001158145.1:p.Pro180fs NC_000004.12:3485554:CC:C p.(Pro180LeufsTer322) NC_000004.12:3485554:CC:C p.(Pro180LeufsTer322) NC_000004.12:3485555:C: Analogous +NM_001130455.2:c.866dup NP_001123927.1:p.Asp289fs NC_000002.12:71516995:A:AA p.(Asp289GlufsTer40) NC_000002.12:71516995:A:AA p.(Asp289GlufsTer40) ERR:SPDI Analogous +NM_001014763.1:c.944_945del NP_001014763.1:p.Val315fs NC_000019.10:51345306:CACA:CA p.(Val315AspfsTer19) NC_000019.10:51345306:CACA:CA p.(Val315AspfsTer19) NC_000019.10:51345306:CA: Analogous +NM_000401.3:c.380A>G NP_000392.3:p.Tyr127Cys NC_000011.10:44107992:A:G p.(Tyr127Cys) NC_000011.10:44107992:A:G p.(Tyr127Cys) NC_000011.10:44107992:A:G Identity +NM_000137.4:c.532G>T NP_000128.1:p.Gly178Ter NC_000015.10:80168127:G:T p.(Gly178Ter) NC_000015.10:80168127:G:T p.(Gly178Ter) NC_000015.10:80168127:G:T Identity +NM_001302959.2:c.702G>T NP_001289888.1:p.Glu234Asp NC_000011.10:67490878:G:T p.(Glu234Asp) NC_000011.10:67490878:G:T p.(Glu234Asp) NC_000011.10:67490878:G:T Identity +NM_000127.3:c.1524G>C NP_000118.2:p.Gln508His NC_000008.11:117819687:C:G p.(Gln508His) NC_000008.11:117819687:C:G p.(Gln508His) NC_000008.11:117819687:C:G Identity +NM_001281737.2:c.878del NP_001268666.1:p.Phe293fs NC_000004.12:158699031:TT:T p.(Phe293SerfsTer45) NC_000004.12:158699031:TT:T p.(Phe293SerfsTer45) NC_000004.12:158699032:T: Analogous +NM_001142800.2:c.7495dup NP_001136272.1:p.Ser2499fs NC_000006.12:63789140:TT:TTT p.(Ser2499LysfsTer31) NC_000006.12:63789140:TT:TTT p.(Ser2499LysfsTer31) ERR:SPDI Analogous +NM_000135.4:c.3955dup NP_000126.2:p.Leu1319fs NC_000016.10:89739532:GG:GGG p.(Leu1319ProfsTer26) NC_000016.10:89739532:GG:GGG p.(Leu1319ProfsTer26) ERR:SPDI Analogous +NM_000135.4:c.306del NP_000126.2:p.Ser103fs NC_000016.10:89811048:GG:G p.(Ser103GlnfsTer35) NC_000016.10:89811048:GG:G p.(Ser103GlnfsTer35) NC_000016.10:89811048:G: Analogous +NM_000035.4:c.742C>T NP_000026.2:p.Gln248Ter NC_000009.12:101425509:G:A p.(Gln248Ter) NC_000009.12:101425509:G:A p.(Gln248Ter) NC_000009.12:101425509:G:A Identity +NM_022725.4:c.133_136del NP_073562.1:p.His45fs NC_000011.10:22625674:GATGGATG:GATG p.(His45GlyfsTer35) NC_000011.10:22625674:GATGGATG:GATG p.(His45GlyfsTer35) NC_000011.10:22625674:GATG: Analogous +NM_001113378.2:c.238dup NP_001106849.1:p.Asp80fs NC_000015.10:89260788:GGGGG:GGGGGG p.(Asp80GlyfsTer9) NC_000015.10:89260788:GGGGG:GGGGGG p.(Asp80GlyfsTer9) ERR:SPDI Analogous +NM_000136.3:c.163del NP_000127.2:p.Met55fs NC_000009.12:95249128:T: p.(Met55TrpfsTer27) NC_000009.12:95249128:T: p.(Met55TrpfsTer27) NC_000009.12:95249128:T: Analogous +NM_001018115.3:c.2776C>T NP_001018125.1:p.Arg926Ter NC_000003.12:10074589:C:T p.(Arg926Ter) NC_000003.12:10074589:C:T p.(Arg926Ter) NC_000003.12:10074589:C:T Identity +NM_001113378.2:c.685_686del NP_001106849.1:p.Val229fs NC_000015.10:89264534:GTGT:GT p.(Val229PhefsTer13) NC_000015.10:89264534:GTGT:GT p.(Val229PhefsTer13) NC_000015.10:89264536:GT: Analogous +NM_000135.4:c.3208del NP_000126.2:p.Gln1070fs NC_000016.10:89749760:G: p.(Gln1070ArgfsTer7) NC_000016.10:89749760:G: p.(Gln1070ArgfsTer7) NC_000016.10:89749760:G: Analogous +NM_000135.4:c.2647_2648del NP_000126.2:p.Leu883fs NC_000016.10:89765019:AGAG:AG p.(Leu883PhefsTer2) NC_000016.10:89765019:AGAG:AG p.(Leu883PhefsTer2) NC_000016.10:89765019:AG: Analogous +NM_004629.2:c.508C>T NP_004620.1:p.Gln170Ter NC_000009.12:35078142:G:A p.(Gln170Ter) NC_000009.12:35078142:G:A p.(Gln170Ter) NC_000009.12:35078142:G:A Identity +NM_024642.5:c.713T>G NP_078918.3:p.Leu238Arg NC_000009.12:98826922:T:G p.(Leu238Arg) NC_000009.12:98826922:T:G p.(Leu238Arg) NC_000009.12:98826922:T:G Identity +NM_024642.5:c.52C>T NP_078918.3:p.Arg18Trp NC_000009.12:98807749:C:T p.(Arg18Trp) NC_000009.12:98807749:C:T p.(Arg18Trp) NC_000009.12:98807749:C:T Identity +NM_000155.4:c.912_913insGA NP_000146.2:p.Thr305fs NC_000009.12:34649417::GA p.(Thr305GlufsTer55) NC_000009.12:34649416:C:GA p.(Thr305GlufsTer55) NC_000009.12:34649417:CA:GA Analogous +NM_000159.4:c.1144_1145del NP_000150.1:p.Ala382fs NC_000019.10:12897762:CGC:C p.(Ala382ProfsTer14) NC_000019.10:12897762:CGC:C p.(Ala382ProfsTer14) NC_000019.10:12897763:GC: Analogous +NM_001039885.3:c.433_455del NP_001034974.1:p.Val145fs NC_000019.10:46755881:GGTGGAGGCGCTCCGCGCAGGAAG:G p.(Val145ArgfsTer106) NC_000019.10:46755881:GGTGGAGGCGCTCCGCGCAGGAAG:G p.(Val145ArgfsTer106) NC_000019.10:46755882:GTGGAGGCGCTCCGCGCAGGAAG: Analogous +NM_004304.5:c.2389G>A NP_004295.2:p.Glu797Lys NC_000002.12:29233662:C:T p.(Glu797Lys) NC_000002.12:29233662:C:T p.(Glu797Lys) NC_000002.12:29233662:C:T Identity +NM_001316350.2:c.730G>T NP_001303279.1:p.Glu244Ter NC_000001.11:231266153:G:T p.(Glu244Ter) NC_000001.11:231266153:G:T p.(Glu244Ter) NC_000001.11:231266153:G:T Identity +NM_001039885.3:c.632del NP_001034974.1:p.Ser211fs NC_000019.10:46756081:C: p.(Ser211TrpfsTer28) NC_000019.10:46756081:C: p.(Ser211TrpfsTer28) NC_000019.10:46756081:C: Analogous +NM_000159.4:c.1236del NP_000150.1:p.Tyr413fs NC_000019.10:12897854:CC:C p.(Tyr413ThrfsTer10) NC_000019.10:12897854:CC:C p.(Tyr413ThrfsTer10) NC_000019.10:12897855:C: Analogous +NM_000525.4:c.816_829del NP_000516.3:p.Ser273fs NC_000011.10:17387262:GGTGCAGGTCGCTGGGTGC:GGTGC p.(Ser273ProfsTer31) NC_000011.10:17387262:GGTGCAGGTCGCTGGGTGC:GGTGC p.(Ser273ProfsTer31) NC_000011.10:17387262:GGTGCAGGTCGCTG: Analogous +NM_000426.4:c.1682_1688del NP_000417.3:p.Leu561fs NC_000006.12:129192752:TGGACTC: p.(Leu561TyrfsTer36) NC_000006.12:129192752:TGGACTC: p.(Leu561TyrfsTer36) NC_000006.12:129192752:TGGACTC: Analogous +NM_000191.3:c.124G>A NP_000182.2:p.Asp42Asn NC_000001.11:23820529:C:T p.(Asp42Asn) NC_000001.11:23820529:C:T p.(Asp42Asn) NC_000001.11:23820529:C:T Identity +NM_000183.3:c.466C>T NP_000174.1:p.Gln156Ter NC_000002.12:26278636:C:T p.(Gln156Ter) NC_000002.12:26278636:C:T p.(Gln156Ter) NC_000002.12:26278636:C:T Identity +NM_000414.4:c.2071dup NP_000405.1:p.Ser691fs NC_000005.10:119536497:TTT:TTTT p.(Ser691PhefsTer3) NC_000005.10:119536497:TTT:TTTT p.(Ser691PhefsTer3) ERR:SPDI Analogous +NM_001159508.3:c.917G>A NP_001152980.2:p.Cys306Tyr NC_000015.10:40416123:G:A p.(Cys306Tyr) NC_000015.10:40416123:G:A p.(Cys306Tyr) NC_000015.10:40416123:G:A Identity +NM_001122769.3:c.1730dup NP_001116241.1:p.Leu577fs NC_000006.12:79487367:AAAAAA:AAAAAAA p.(Leu577PhefsTer12) NC_000006.12:79487367:AAAAAA:AAAAAAA p.(Leu577PhefsTer12) ERR:SPDI Analogous +NM_133259.4:c.1544_1548dup NP_573566.2:p.Ala517fs NC_000002.12:43960574:TGCTT:TGCTTTGCTT p.(Ala517LysfsTer7) NC_000002.12:43960574:TGCTT:TGCTTTGCTT p.(Ala517LysfsTer7) ERR:SPDI Analogous +NM_006767.4:c.1289A>C NP_006758.2:p.His430Pro NC_000022.11:20993689:A:C p.(His430Pro) NC_000022.11:20993689:A:C p.(His430Pro) NC_000022.11:20993689:A:C Identity +NM_000528.4:c.664_667del NP_000519.2:p.Asp222fs NC_000019.10:12663798:AATCAA:AA p.(Asp222IlefsTer23) NC_000019.10:12663798:AATCAA:AA p.(Asp222IlefsTer23) NC_000019.10:12663798:AATC: Analogous +NM_001293273.2:c.1167del NP_001280202.1:p.Glu389fs NC_000003.12:183037293:C: p.(Glu389AspfsTer17) NC_000003.12:183037293:C: p.(Glu389AspfsTer17) NC_000003.12:183037293:C: Analogous +NM_018848.3:c.383_391delinsG NP_061336.1:p.Ile128fs NC_000020.11:10413123:GATAACTGA:C p.(Ser129ArgfsTer3) NC_000020.11:10413120:TGAGATAACTGA:TGAC p.(Ile128SerfsTer4) NC_000020.11:10413123:GATAACTGA:C Analogous +NM_000426.4:c.6103C>T NP_000417.3:p.Gln2035Ter NC_000006.12:129440832:C:T p.(Gln2035Ter) NC_000006.12:129440832:C:T p.(Gln2035Ter) NC_000006.12:129440832:C:T Identity +NM_000081.4:c.9475del NP_000072.2:p.Asp3159fs NC_000001.11:235720745:C: p.(Asp3159IlefsTer26) NC_000001.11:235720745:C: p.(Asp3159IlefsTer26) NC_000001.11:235720745:C: Analogous +NM_000081.4:c.9245dup NP_000072.2:p.Leu3082fs NC_000001.11:235724097:AA:AAA p.(Leu3082PhefsTer4) NC_000001.11:235724097:AA:AAA p.(Leu3082PhefsTer4) ERR:SPDI Analogous +NM_000528.4:c.2778_2781dup NP_000519.2:p.Gly928fs NC_000019.10:12647481:GGAA:GGAAGGAA p.(Gly928PhefsTer4) NC_000019.10:12647481:GGAA:GGAAGGAA p.(Gly928PhefsTer4) ERR:SPDI Analogous +NM_001375644.1:c.260_267dup NP_001362573.1:p.Tyr90fs NC_000004.12:145639398:ATAAACTT:ATAAACTTATAAACTT p.(Tyr90IlefsTer7) NC_000004.12:145639398:ATAAACTT:ATAAACTTATAAACTT p.(Tyr90IlefsTer7) ERR:SPDI Analogous +NM_001271769.2:c.1705C>T NP_001258698.1:p.Gln569Ter NC_000005.10:78128145:G:A p.(Gln569Ter) NC_000005.10:78128145:G:A p.(Gln569Ter) NC_000005.10:78128145:G:A Identity +NM_000179.3:c.3729_3767dup NP_000170.1:p.Tyr1256Ter NC_000002.12:47806285:ATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTA:ATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTAATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTA p.(Tyr1256Ter) NC_000002.12:47806285:ATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTA:ATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTAATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTA p.(Tyr1256Ter) ERR:SPDI Identity +NM_000179.3:c.650A>C NP_000170.1:p.Asp217Ala NC_000002.12:47798632:A:C p.(Asp217Ala) NC_000002.12:47798632:A:C p.(Asp217Ala) NC_000002.12:47798632:A:C Identity +NM_002485.5:c.241del NP_002476.2:p.Glu81fs NC_000008.11:89981453:CC:C p.(Glu81LysfsTer11) NC_000008.11:89981453:CC:C p.(Glu81LysfsTer11) NC_000008.11:89981453:C: Analogous +NM_001164507.2:c.22389del NP_001157979.2:p.Lys7464fs NC_000002.12:151524400:GG:G p.(Lys7464SerfsTer10) NC_000002.12:151524400:GG:G p.(Lys7464SerfsTer10) NC_000002.12:151524400:G: Analogous +NM_001164507.2:c.13252C>T NP_001157979.2:p.Gln4418Ter NC_000002.12:151603579:G:A p.(Gln4418Ter) NC_000002.12:151603579:G:A p.(Gln4418Ter) NC_000002.12:151603579:G:A Identity +NM_001039375.3:c.85delinsAA NP_001034464.1:p.Val29fs NC_000020.11:13785152:G:AA p.(Val29AsnfsTer10) NC_000020.11:13785152:G:AA p.(Val29AsnfsTer10) NC_000020.11:13785152:G:AA Analogous +NM_001164507.2:c.21957_21963del NP_001157979.2:p.Lys7319fs NC_000002.12:151526244:TTTCTCTTT:TT p.(Lys7319AsnfsTer61) NC_000002.12:151526244:TTTCTCTTT:TT p.(Lys7319AsnfsTer61) NC_000002.12:151526244:TTTCTCT: Analogous +NM_001164507.2:c.23355C>G NP_001157979.2:p.Tyr7785Ter NC_000002.12:151508100:G:C p.(Tyr7785Ter) NC_000002.12:151508100:G:C p.(Tyr7785Ter) NC_000002.12:151508100:G:C Identity +NM_004646.4:c.2083del NP_004637.1:p.Arg695fs NC_000019.10:35844231:GGGGG:GGGG p.(Arg695GlyfsTer15) NC_000019.10:35844231:GGGGG:GGGG p.(Arg695GlyfsTer15) NC_000019.10:35844231:G: Analogous +NM_001297575.2:c.293_294del NP_001284504.1:p.Leu98fs NC_000001.11:179564773:TA: p.(Leu98TrpfsTer4) NC_000001.11:179564773:TA: p.(Leu98TrpfsTer4) NC_000001.11:179564773:TA: Analogous +NM_000268.4:c.7G>C NP_000259.1:p.Gly3Arg NC_000022.11:29604004:G:C p.(Gly3Arg) NC_000022.11:29604004:G:C p.(Gly3Arg) NC_000022.11:29604004:G:C Identity +NM_004646.4:c.1409del NP_004637.1:p.Gly470fs NC_000019.10:35848071:CCCCC:CCCC p.(Gly470AlafsTer16) NC_000019.10:35848071:CCCCC:CCCC p.(Gly470AlafsTer16) NC_000019.10:35848071:C: Analogous +NM_000277.3:c.797C>T NP_000268.1:p.Thr266Ile NC_000012.12:102852859:G:A p.(Thr266Ile) NC_000012.12:102852859:G:A p.(Thr266Ile) NC_000012.12:102852859:G:A Identity +NM_000277.3:c.506G>T NP_000268.1:p.Arg169Leu NC_000012.12:102866598:C:A p.(Arg169Leu) NC_000012.12:102866598:C:A p.(Arg169Leu) NC_000012.12:102866598:C:A Identity +NM_000038.6:c.8089T>C NP_000029.2:p.Ser2697Pro NC_000005.10:112843682:T:C p.(Ser2697Pro) NC_000005.10:112843682:T:C p.(Ser2697Pro) NC_000005.10:112843682:T:C Identity +NM_000038.6:c.5882T>G NP_000029.2:p.Val1961Gly NC_000005.10:112841475:T:G p.(Val1961Gly) NC_000005.10:112841475:T:G p.(Val1961Gly) NC_000005.10:112841475:T:G Identity +NM_004646.4:c.2083dup NP_004637.1:p.Arg695fs NC_000019.10:35844231:GGGGG:GGGGGG p.(Arg695ProfsTer31) NC_000019.10:35844231:GGGGG:GGGGGG p.(Arg695ProfsTer31) ERR:SPDI Analogous +NM_000466.3:c.43del NP_000457.1:p.Ala15fs NC_000007.14:92528392:CCCC:CCC p.(Ala15ArgfsTer3) NC_000007.14:92528392:CCCC:CCC p.(Ala15ArgfsTer3) NC_000007.14:92528392:C: Analogous +NM_138694.4:c.3830_3843dup NP_619639.3:p.Pro1282fs NC_000006.12:52025966:ACCACGGGCGAAGAACC:ACCACGGGCGAAGAACCACGGGCGAAGAACC p.(Pro1282SerfsTer26) NC_000006.12:52025966:ACCACGGGCGAAGAACC:ACCACGGGCGAAGAACCACGGGCGAAGAACC p.(Pro1282SerfsTer26) ERR:SPDI Analogous +NM_000282.4:c.699G>A NP_000273.2:p.Trp233Ter NC_000013.11:100257655:G:A p.(Trp233Ter) NC_000013.11:100257655:G:A p.(Trp233Ter) NC_000013.11:100257655:G:A Identity +NM_000532.5:c.1215C>G NP_000523.2:p.Tyr405Ter NC_000003.12:136327170:C:G p.(Tyr405Ter) NC_000003.12:136327170:C:G p.(Tyr405Ter) NC_000003.12:136327170:C:G Identity +NM_001142763.2:c.1752C>A NP_001136235.1:p.Tyr584Ter NC_000010.11:54153146:G:T p.(Tyr584Ter) NC_000010.11:54153146:G:T p.(Tyr584Ter) NC_000010.11:54153146:G:T Identity +NM_138694.4:c.2171C>G NP_619639.3:p.Pro724Arg NC_000006.12:52050264:G:C p.(Pro724Arg) NC_000006.12:52050264:G:C p.(Pro724Arg) NC_000006.12:52050264:G:C Identity +NM_000466.3:c.2835_2841del NP_000457.1:p.Ala946fs NC_000007.14:92494571:AGGAGCAA:A p.(Ala946GlyfsTer13) NC_000007.14:92494571:AGGAGCAA:A p.(Ala946GlyfsTer13) NC_000007.14:92494571:AGGAGCA: Analogous +NM_001374425.1:c.408_423dup NP_001361354.1:p.Arg142fs NC_000001.11:2408628:CGCCCCTGAGCAGCCACGCCC:CGCCCCTGAGCAGCCACGCCCCTGAGCAGCCACGCCC p.(Arg142TrpfsTer18) NC_000001.11:2408628:CGCCCCTGAGCAGCCACGCCC:CGCCCCTGAGCAGCCACGCCCCTGAGCAGCCACGCCC p.(Arg142TrpfsTer18) ERR:SPDI Analogous +NM_000286.3:c.140C>G NP_000277.1:p.Ser47Ter NC_000017.11:35577577:G:C p.(Ser47Ter) NC_000017.11:35577577:G:C p.(Ser47Ter) NC_000017.11:35577577:G:C Identity +NM_000289.6:c.811G>T NP_000280.1:p.Gly271Ter NC_000012.12:48135005:G:T p.(Gly271Ter) NC_000012.12:48135005:G:T p.(Gly271Ter) NC_000012.12:48135005:G:T Identity +NM_000448.3:c.2918G>A NP_000439.2:p.Arg973His NC_000011.10:36576221:G:A p.(Arg973His) NC_000011.10:36576221:G:A p.(Arg973His) NC_000011.10:36576221:G:A Identity +NM_138694.4:c.792_793del NP_619639.3:p.Phe265fs NC_000006.12:52066062:ACACA:ACA p.(Phe265SerfsTer20) NC_000006.12:52066062:ACACA:ACA p.(Phe265SerfsTer20) NC_000006.12:52066062:AC: Analogous +NM_000264.5:c.3901C>T NP_000255.2:p.Gln1301Ter NC_000009.12:95447354:G:A p.(Gln1301Ter) NC_000009.12:95447354:G:A p.(Gln1301Ter) NC_000009.12:95447354:G:A Identity +NM_001037537.2:c.227_228del NP_001032626.1:p.Gln76fs NC_000010.11:13288509:CT: p.(Gln76ArgfsTer54) NC_000010.11:13288509:CT: p.(Gln76ArgfsTer54) NC_000010.11:13288509:CT: Analogous +NM_138694.4:c.6469C>T NP_619639.3:p.Gln2157Ter NC_000006.12:51911819:G:A p.(Gln2157Ter) NC_000006.12:51911819:G:A p.(Gln2157Ter) NC_000006.12:51911819:G:A Identity +NM_138694.4:c.3548_3557del NP_619639.3:p.Ile1183fs NC_000006.12:52028158:TGTGAGTGAATG:TG p.(Ile1183LysfsTer34) NC_000006.12:52028158:TGTGAGTGAATG:TG p.(Ile1183LysfsTer34) NC_000006.12:52028158:TGTGAGTGAA: Analogous +NM_000303.3:c.28del NP_000294.1:p.Leu10fs NC_000016.10:8797908:CC:C p.(Leu10SerfsTer26) NC_000016.10:8797908:CC:C p.(Leu10SerfsTer26) NC_000016.10:8797909:C: Analogous +NM_001005498.4:c.371G>A NP_001005498.2:p.Arg124His NC_000017.11:76479178:C:T p.(Arg124His) NC_000017.11:76479178:C:T p.(Arg124His) NC_000017.11:76479178:C:T Identity +NM_001283009.2:c.2817_2821dup NP_001269938.1:p.Glu941fs NC_000020.11:63692968:TGCTG:TGCTGTGCTG p.(Glu941ValfsTer33) NC_000020.11:63692968:TGCTG:TGCTGTGCTG p.(Glu941ValfsTer33) ERR:SPDI Analogous +NM_001126131.2:c.793_794del NP_001119603.1:p.Leu265fs NC_000015.10:89330141:AA: p.(Leu265SerfsTer9) NC_000015.10:89330141:AA: p.(Leu265SerfsTer9) NC_000015.10:89330141:AA: Analogous +NM_005732.4:c.3564dup NP_005723.2:p.Leu1189fs NC_000005.10:132638168:G:GG p.(Leu1189AlafsTer31) NC_000005.10:132638168:G:GG p.(Leu1189AlafsTer31) ERR:SPDI Analogous +NM_000038.6:c.6426dup NP_000029.2:p.Ser2143fs NC_000005.10:112842019:C:CC p.(Ser2143LeufsTer11) NC_000005.10:112842019:C:CC p.(Ser2143LeufsTer11) ERR:SPDI Analogous +NM_000352.6:c.160C>T NP_000343.2:p.Gln54Ter NC_000011.10:17475015:G:A p.(Gln54Ter) NC_000011.10:17475015:G:A p.(Gln54Ter) NC_000011.10:17475015:G:A Identity +NM_000023.4:c.725T>C NP_000014.1:p.Val242Ala NC_000017.11:50169231:T:C p.(Val242Ala) NC_000017.11:50169231:T:C p.(Val242Ala) NC_000017.11:50169231:T:C Identity +NM_001042494.2:c.2095C>T NP_001035959.1:p.Gln699Ter NC_000015.10:34240824:G:A p.(Gln699Ter) NC_000015.10:34240824:G:A p.(Gln699Ter) NC_000015.10:34240824:G:A Identity +NM_001042494.2:c.2127dup NP_001035959.1:p.His711fs NC_000015.10:34240792:G:GG p.(His711ThrfsTer37) NC_000015.10:34240792:G:GG p.(His711ThrfsTer37) ERR:SPDI Analogous +NM_005055.5:c.737_738insA NP_005046.2:p.Leu247fs NC_000011.10:47441874::T p.(Leu247AlafsTer8) NC_000011.10:47441873:C:T p.(Leu247AlafsTer8) NC_000011.10:47441874:CG:T Analogous +NM_001005498.4:c.1924C>T NP_001005498.2:p.Leu642Phe NC_000017.11:76472825:G:A p.(Leu642Phe) NC_000017.11:76472825:G:A p.(Leu642Phe) NC_000017.11:76472825:G:A Identity +NM_001278055.2:c.10845_10846del NP_001264984.1:p.Asp3615fs NC_000013.11:23332588:CA: p.(Asp3615GlufsTer7) NC_000013.11:23332588:CA: p.(Asp3615GlufsTer7) NC_000013.11:23332588:CA: Analogous +NM_001294332.2:c.955C>T NP_001281261.1:p.Gln319Ter NC_000005.10:235177:C:T p.(Gln319Ter) NC_000005.10:235177:C:T p.(Gln319Ter) NC_000005.10:235177:C:T Identity +NM_001320867.2:c.48_49dup NP_001307796.1:p.Gly17fs NC_000019.10:43527128:CGCGC:CGCGCGC p.(Gly17AlafsTer17) NC_000019.10:43527128:CGCGC:CGCGCGC p.(Gly17AlafsTer17) ERR:SPDI Analogous +NM_001278055.2:c.8665C>T NP_001264984.1:p.Gln2889Ter NC_000013.11:23334769:G:A p.(Gln2889Ter) NC_000013.11:23334769:G:A p.(Gln2889Ter) NC_000013.11:23334769:G:A Identity +NM_000048.4:c.226C>T NP_000039.2:p.Gln76Ter NC_000007.14:66082385:C:T p.(Gln76Ter) NC_000007.14:66082385:C:T p.(Gln76Ter) NC_000007.14:66082385:C:T Identity +NM_001164277.2:c.969_975del NP_001157749.1:p.Ser324fs NC_000011.10:119025975:GTCACTGGTCACTG:GTCACTG p.(Ser324ProfsTer27) NC_000011.10:119025975:GTCACTGGTCACTG:GTCACTG p.(Ser324ProfsTer27) NC_000011.10:119025975:GTCACTG: Analogous +NM_000455.5:c.1168G>T NP_000446.1:p.Val390Leu NC_000019.10:1226512:G:T p.(Val390Leu) NC_000019.10:1226512:G:T p.(Val390Leu) NC_000019.10:1226512:G:T Identity +NM_001127396.3:c.1402C>T NP_001120868.1:p.Gln468Ter NC_000019.10:7646302:C:T p.(Gln468Ter) NC_000019.10:7646302:C:T p.(Gln468Ter) NC_000019.10:7646302:C:T Identity +NM_001351059.2:c.484del NP_001337988.1:p.Ile162fs NC_000011.10:68047718:A: p.(Ile162SerfsTer68) NC_000011.10:68047718:A: p.(Ile162SerfsTer68) NC_000011.10:68047718:A: Analogous +NM_000359.3:c.60_63dup NP_000350.1:p.Thr22fs NC_000014.9:24262289:GGTAGG:GGTAGGTAGG p.(Thr22TyrfsTer39) NC_000014.9:24262289:GGTAGG:GGTAGGTAGG p.(Thr22TyrfsTer39) ERR:SPDI Analogous +NM_000112.4:c.2056del NP_000103.2:p.Cys686fs NC_000005.10:149981648:T: p.(Cys686AlafsTer5) NC_000005.10:149981648:T: p.(Cys686AlafsTer5) NC_000005.10:149981648:T: Analogous +NM_000441.2:c.1022dup NP_000432.1:p.Pro342fs NC_000007.14:107689071:CC:CCC p.(Pro342ThrfsTer35) NC_000007.14:107689071:CC:CCC p.(Pro342ThrfsTer35) ERR:SPDI Analogous +NM_206933.4:c.14586T>G NP_996816.3:p.Tyr4862Ter NC_000001.11:215647726:A:C p.(Tyr4862Ter) NC_000001.11:215647726:A:C p.(Tyr4862Ter) NC_000001.11:215647726:A:C Identity +NM_003764.4:c.73G>T NP_003755.2:p.Glu25Ter NC_000006.12:144186699:G:T p.(Glu25Ter) NC_000006.12:144186699:G:T p.(Glu25Ter) NC_000006.12:144186699:G:T Identity +NM_001178133.2:c.657C>G NP_001171604.1:p.Ile219Met NC_000010.11:102593694:C:G p.(Ile219Met) NC_000010.11:102593694:C:G p.(Ile219Met) NC_000010.11:102593694:C:G Identity +NM_001351059.2:c.74G>A NP_001337988.1:p.Trp25Ter NC_000011.10:68044291:G:A p.(Trp25Ter) NC_000011.10:68044291:G:A p.(Trp25Ter) NC_000011.10:68044291:G:A Identity +NM_001005207.5:c.2377_2378del NP_001005207.1:p.Leu793fs NC_000017.11:59017303:AGAG:AG p.(Leu793ValfsTer2) NC_000017.11:59017303:AGAG:AG p.(Leu793ValfsTer2) NC_000017.11:59017303:AG: Analogous +NM_001410805.1:c.1108dup NP_001397734.1:p.Ser370fs NC_000003.12:128909090:A:AA p.(Ser370LysfsTer10) NC_000003.12:128909090:A:AA p.(Ser370LysfsTer10) ERR:SPDI Analogous +NM_001005207.5:c.2437_2438insAT NP_001005207.1:p.Leu813fs NC_000017.11:59015748:A:ATA p.(Leu813TyrfsTer2) NC_000017.11:59015747:A:AT p.(Leu813TyrfsTer2) NC_000017.11:59015748:AA:AT Analogous +NM_001288781.1:c.184G>T NP_001275710.1:p.Glu62Ter NC_000014.9:88839520:G:T p.(Glu62Ter) NC_000014.9:88839520:G:T p.(Glu62Ter) NC_000014.9:88839520:G:T Identity +NM_001297764.2:c.1037_1044dup NP_001284693.1:p.Glu349fs NC_000011.10:17520978:TTCCTCCT:TTCCTCCTTTCCTCCT p.(Glu349ArgfsTer100) NC_000011.10:17520978:TTCCTCCT:TTCCTCCTTTCCTCCT p.(Glu349ArgfsTer100) ERR:SPDI Analogous +NM_206933.4:c.11447dup NP_996816.3:p.Thr3817fs NC_000001.11:215743277:A:AA p.(Thr3817AsnfsTer25) NC_000001.11:215743277:A:AA p.(Thr3817AsnfsTer25) ERR:SPDI Analogous +NM_000548.5:c.3263T>C NP_000539.2:p.Leu1088Pro NC_000016.10:2079406:T:C p.(Leu1088Pro) NC_000016.10:2079406:T:C p.(Leu1088Pro) NC_000016.10:2079406:T:C Identity +NM_000372.5:c.422del NP_000363.1:p.Ala141fs NC_000011.10:89178374:C: p.(Ala141GlufsTer13) NC_000011.10:89178374:C: p.(Ala141GlufsTer13) NC_000011.10:89178374:C: Analogous +NM_000380.4:c.743del NP_000371.1:p.Pro248fs NC_000009.12:97675517:GG:G p.(Pro248GlnfsTer5) NC_000009.12:97675517:GG:G p.(Pro248GlnfsTer5) NC_000009.12:97675517:G: Analogous +NM_000016.6:c.308T>A NP_000007.1:p.Phe103Tyr NC_000001.11:75733548:T:A p.(Phe103Tyr) NC_000001.11:75733548:T:A p.(Phe103Tyr) NC_000001.11:75733548:T:A Identity +NM_000053.4:c.1954A>T NP_000044.2:p.Lys652Ter NC_000013.11:51960314:T:A p.(Lys652Ter) NC_000013.11:51960314:T:A p.(Lys652Ter) NC_000013.11:51960314:T:A Identity +NM_007123.6:c.144del NP_009054.6:p.Val49fs NC_000001.11:216422192:TTT:TT p.(Val49PhefsTer96) NC_000001.11:216422192:TTT:TT p.(Val49PhefsTer96) NC_000001.11:216422192:T: Analogous +NM_000553.6:c.4109del NP_000544.2:p.Asn1370fs NC_000008.11:31167146:AA:A p.(Asn1370ThrfsTer23) NC_000008.11:31167146:AA:A p.(Asn1370ThrfsTer23) NC_000008.11:31167147:A: Analogous +NM_000051.4:c.2719dup NP_000042.3:p.Cys907fs NC_000011.10:108268489:T:TT p.(Cys907LeufsTer13) NC_000011.10:108268489:T:TT p.(Cys907LeufsTer13) ERR:SPDI Analogous +NM_000051.4:c.15del NP_000042.3:p.Asn6fs NC_000011.10:108227637:TT:T p.(Asn6MetfsTer10) NC_000011.10:108227637:TT:T p.(Asn6MetfsTer10) NC_000011.10:108227638:T: Analogous +NM_001407952.1:c.3773_3777delinsATC NP_001394881.1:p.Ala1258fs NC_000017.11:43091018:AGATG:GAT p.(Ala1258AspfsTer4) NC_000017.11:43091018:AGATG:GAT p.(Ala1258AspfsTer4) NC_000017.11:43091018:AGATG:GAT Analogous +NM_000016.6:c.830_831dup NP_000007.1:p.Asp278fs NC_000001.11:75749537:TTTT:TTTTTT p.(Asp278LeufsTer7) NC_000001.11:75749537:TTTT:TTTTTT p.(Asp278LeufsTer7) ERR:SPDI Analogous +NM_000076.2:c.388G>C NP_000067.1:p.Glu130Gln NC_000011.10:2885101:C:G p.(Glu130Gln) NC_000011.10:2885101:C:G p.(Glu130Gln) NC_000011.10:2885101:C:G Identity +NM_001320665.2:c.103C>T NP_001307594.1:p.Gln35Ter NC_000015.10:72709725:C:T p.(Gln35Ter) NC_000015.10:72709725:C:T p.(Gln35Ter) NC_000015.10:72709725:C:T Identity +NM_000059.4:c.9258_9262del NP_000050.3:p.Leu3087fs NC_000013.11:32394688:GACTTG:G p.(Leu3087ProfsTer22) NC_000013.11:32394688:GACTTG:G p.(Leu3087ProfsTer22) NC_000013.11:32394689:ACTTG: Analogous +NM_001386679.1:c.329dup NP_001373608.1:p.Asn110fs NC_000011.10:108140108:AAA:AAAA p.(Asn110LysfsTer2) NC_000011.10:108140108:AAA:AAAA p.(Asn110LysfsTer2) ERR:SPDI Analogous +NM_001127214.4:c.1491dup NP_001120686.1:p.Ser498fs NC_000016.10:89145387:CCCC:CCCCC p.(Ser498GlnfsTer68) NC_000016.10:89145387:CCCC:CCCCC p.(Ser498GlnfsTer68) ERR:SPDI Analogous +NM_006493.4:c.717dup NP_006484.2:p.Asn240Ter NC_000013.11:77000606:TTT:TTTT p.(Asn240Ter) NC_000013.11:77000606:TTT:TTTT p.(Asn240Ter) ERR:SPDI Identity +NM_000465.4:c.932A>G NP_000456.2:p.Lys311Arg NC_000002.12:214780941:T:C p.(Lys311Arg) NC_000002.12:214780941:T:C p.(Lys311Arg) NC_000002.12:214780941:T:C Identity +NM_000465.4:c.1003del NP_000456.2:p.Arg335fs NC_000002.12:214780870:T: p.(Arg335AspfsTer7) NC_000002.12:214780870:T: p.(Arg335AspfsTer7) NC_000002.12:214780870:T: Analogous +NM_000465.4:c.1128del NP_000456.2:p.Arg378fs NC_000002.12:214780745:T: p.(Arg378GlyfsTer22) NC_000002.12:214780745:T: p.(Arg378GlyfsTer22) NC_000002.12:214780745:T: Analogous +NM_024685.4:c.844_845del NP_078961.3:p.Gln282fs NC_000012.12:76347139:TGTG:TG p.(Gln282ValfsTer21) NC_000012.12:76347139:TGTG:TG p.(Gln282ValfsTer21) NC_000012.12:76347139:TG: Analogous +NM_001033604.2:c.196G>T NP_001028776.1:p.Glu66Ter NC_000007.14:33152783:G:T p.(Glu66Ter) NC_000007.14:33152783:G:T p.(Glu66Ter) NC_000007.14:33152783:G:T Identity +NM_000070.3:c.703del NP_000061.1:p.Val235fs NC_000015.10:42388994:GGGG:GGG p.(Val235TrpfsTer18) NC_000015.10:42388994:GGGG:GGG p.(Val235TrpfsTer18) NC_000015.10:42388997:G: Analogous +NM_022124.6:c.6676_6677insTT NP_071407.4:p.Asn2226fs NC_000010.11:71793604::TT p.(Asn2226IlefsTer9) NC_000010.11:71793603:A:TT p.(Asn2226IlefsTer9) NC_000010.11:71793604:AA:TT Analogous +NM_001122633.3:c.1390_1397del NP_001116105.2:p.Pro464fs NC_000002.12:210599401:CCAAACAT: p.(Pro464CysfsTer7) NC_000002.12:210599401:CCAAACAT: p.(Pro464CysfsTer7) NC_000002.12:210599401:CCAAACAT: Analogous +NM_001042355.2:c.2163A>C NP_001035814.1:p.Lys721Asn NC_000016.10:50791620:A:C p.(Lys721Asn) NC_000016.10:50791620:A:C p.(Lys721Asn) NC_000016.10:50791620:A:C Identity +NM_001407887.1:c.3982del NP_001394816.1:p.Asp1328fs NC_000017.11:43082568:CCC:CC p.(Asp1328IlefsTer7) NC_000017.11:43082568:CCC:CC p.(Asp1328IlefsTer7) NC_000017.11:43082568:C: Analogous +NM_025114.4:c.5223_5224del NP_079390.3:p.Lys1742fs NC_000012.12:88080183:TCT:T p.(Lys1742SerfsTer3) NC_000012.12:88080183:TCT:T p.(Lys1742SerfsTer3) NC_000012.12:88080183:TC: Analogous +NM_000027.4:c.325A>T NP_000018.2:p.Lys109Ter NC_000004.12:177439644:T:A p.(Lys109Ter) NC_000004.12:177439644:T:A p.(Lys109Ter) NC_000004.12:177439644:T:A Identity +NM_000030.3:c.326G>A NP_000021.1:p.Gly109Glu NC_000002.12:240869329:G:A p.(Gly109Glu) NC_000002.12:240869329:G:A p.(Gly109Glu) NC_000002.12:240869329:G:A Identity +NM_001080383.2:c.1175C>T NP_001073852.1:p.Thr392Ile NC_000017.11:44804642:G:A p.(Thr392Ile) NC_000017.11:44804642:G:A p.(Thr392Ile) NC_000017.11:44804642:G:A Identity +NM_005224.3:c.113G>A NP_005215.1:p.Arg38Gln NC_000019.10:929640:G:A p.(Arg38Gln) NC_000019.10:929640:G:A p.(Arg38Gln) NC_000019.10:929640:G:A Identity +NM_022124.6:c.4428del NP_071407.4:p.Ile1476fs NC_000010.11:71739710:TT:T p.(Ile1476MetfsTer40) NC_000010.11:71739710:TT:T p.(Ile1476MetfsTer40) NC_000010.11:71739711:T: Analogous +NM_025114.4:c.1039A>T NP_079390.3:p.Lys347Ter NC_000012.12:88126341:T:A p.(Lys347Ter) NC_000012.12:88126341:T:A p.(Lys347Ter) NC_000012.12:88126341:T:A Identity +NM_021228.3:c.2921C>T NP_067051.2:p.Pro974Leu NC_000019.10:49653309:C:T p.(Pro974Leu) NC_000019.10:49653309:C:T p.(Pro974Leu) NC_000019.10:49653309:C:T Identity +NM_001378761.1:c.4708G>T NP_001365690.1:p.Asp1570Tyr NC_000011.10:121145761:G:T p.(Asp1570Tyr) NC_000011.10:121145761:G:T p.(Asp1570Tyr) NC_000011.10:121145761:G:T Identity +NM_001142929.2:c.59del NP_001136401.2:p.Pro20fs NC_000010.11:49619745:CCCCC:CCCC p.(Pro20ArgfsTer62) NC_000010.11:49619745:CCCCC:CCCC p.(Pro20ArgfsTer62) NC_000010.11:49619749:C: Analogous +NM_000080.4:c.281del NP_000071.1:p.Gly94fs NC_000017.11:4902279:CCCCC:CCCC p.(Gly94ValfsTer2) NC_000017.11:4902279:CCCCC:CCCC p.(Gly94ValfsTer2) NC_000017.11:4902279:C: Analogous +NM_000080.4:c.342dup NP_000071.1:p.Asn115fs NC_000017.11:4902218:G:GG p.(Asn115GlnfsTer3) NC_000017.11:4902218:G:GG p.(Asn115GlnfsTer3) ERR:SPDI Analogous +NM_006493.4:c.969_972del NP_006484.2:p.Leu323fs NC_000013.11:77000857:TTTGTTT:TTT p.(Leu323PhefsTer11) NC_000013.11:77000857:TTTGTTT:TTT p.(Leu323PhefsTer11) NC_000013.11:77000860:GTTT: Analogous +NM_001378454.1:c.4816A>C NP_001365383.1:p.Lys1606Gln NC_000002.12:73451342:A:C p.(Lys1606Gln) NC_000002.12:73451342:A:C p.(Lys1606Gln) NC_000002.12:73451342:A:C Identity +NM_000526.5:c.761A>G NP_000517.3:p.Glu254Gly NC_000017.11:41584260:T:C p.(Glu254Gly) NC_000017.11:41584260:T:C p.(Glu254Gly) NC_000017.11:41584260:T:C Identity +NM_130444.3:c.967C>T NP_569711.2:p.Leu323Phe NC_000021.9:45456496:C:T p.(Leu323Phe) NC_000021.9:45456496:C:T p.(Leu323Phe) NC_000021.9:45456496:C:T Identity +NM_001370529.1:c.286C>T NP_001357458.1:p.Arg96Trp NC_000006.12:111714404:G:A p.(Arg96Trp) NC_000006.12:111714404:G:A p.(Arg96Trp) NC_000006.12:111714404:G:A Identity +NM_001127208.3:c.5393C>G NP_001120680.1:p.Ser1798Ter NC_000004.12:105275902:C:G p.(Ser1798Ter) NC_000004.12:105275902:C:G p.(Ser1798Ter) NC_000004.12:105275902:C:G Identity +NM_017904.4:c.1110C>A NP_060374.2:p.Phe370Leu NC_000001.11:54785554:G:T p.(Phe370Leu) NC_000001.11:54785554:G:T p.(Phe370Leu) NC_000001.11:54785554:G:T Identity +NM_000734.4:c.71T>G NP_000725.1:p.Phe24Cys NC_000001.11:167440754:A:C p.(Phe24Cys) NC_000001.11:167440754:A:C p.(Phe24Cys) NC_000001.11:167440754:A:C Identity +NM_000278.5:c.263C>G NP_000269.3:p.Pro88Arg NC_000010.11:100750743:C:G p.(Pro88Arg) NC_000010.11:100750743:C:G p.(Pro88Arg) NC_000010.11:100750743:C:G Identity +NM_001165979.2:c.4154_4155insGAGGAAAAGG NP_001159451.1:p.Ser1388fs NC_000010.11:94293550::GAGGAAAAGG p.(Ser1388ArgfsTer25) NC_000010.11:94293549:A:GAGGAAAAGG p.(Ser1388ArgfsTer25) NC_000010.11:94293550:AA:GAGGAAAAGG Analogous +NM_000051.4:c.5608T>C NP_000042.3:p.Phe1870Leu NC_000011.10:108304785:T:C p.(Phe1870Leu) NC_000011.10:108304785:T:C p.(Phe1870Leu) NC_000011.10:108304785:T:C Identity +NM_001365536.1:c.5444T>C NP_001352465.1:p.Ile1815Thr NC_000002.12:166199194:A:G p.(Ile1815Thr) NC_000002.12:166199194:A:G p.(Ile1815Thr) NC_000002.12:166199194:A:G Identity +NM_001114978.2:c.587C>G NP_001108450.1:p.Thr196Ser NC_000003.12:189864238:C:G p.(Thr196Ser) NC_000003.12:189864238:C:G p.(Thr196Ser) NC_000003.12:189864238:C:G Identity +NM_006789.4:c.646G>A NP_006780.1:p.Glu216Lys NC_000006.12:41061841:G:A p.(Glu216Lys) NC_000006.12:41061841:G:A p.(Glu216Lys) NC_000006.12:41061841:G:A Identity +NM_001004688.2:c.107dup NP_001004688.1:p.Leu36fs NC_000001.11:248180087:TTTTT:TTTTTT p.(Leu36PhefsTer76) NC_000001.11:248180087:TTTTT:TTTTTT p.(Leu36PhefsTer76) ERR:SPDI Analogous +NM_000384.3:c.10945G>A NP_000375.3:p.Glu3649Lys NC_000002.12:21005922:C:T p.(Glu3649Lys) NC_000002.12:21005922:C:T p.(Glu3649Lys) NC_000002.12:21005922:C:T Identity +NM_000492.4:c.931T>G NP_000483.3:p.Phe311Val NC_000007.14:117540160:T:G p.(Phe311Val) NC_000007.14:117540160:T:G p.(Phe311Val) NC_000007.14:117540160:T:G Identity +NM_001308133.2:c.1182T>G NP_001295062.1:p.Phe394Leu NC_000014.9:45154772:T:G p.(Phe394Leu) NC_000014.9:45154772:T:G p.(Phe394Leu) NC_000014.9:45154772:T:G Identity +NM_000518.5:c.24G>C NP_000509.1:p.Glu8Asp NC_000011.10:5226997:C:G p.(Glu8Asp) NC_000011.10:5226997:C:G p.(Glu8Asp) NC_000011.10:5226997:C:G Identity +NM_001042594.2:c.204A>C NP_001036059.1:p.Gln68His NC_000007.14:124859061:T:G p.(Gln68His) NC_000007.14:124859061:T:G p.(Gln68His) NC_000007.14:124859061:T:G Identity +NM_000552.5:c.7604G>A NP_000543.3:p.Arg2535Gln NC_000012.12:5969335:C:T p.(Arg2535Gln) NC_000012.12:5969335:C:T p.(Arg2535Gln) NC_000012.12:5969335:C:T Identity +NM_001077490.3:c.736C>T NP_001070958.1:p.Arg246Cys NC_000020.11:58854187:C:T p.(Arg246Cys) NC_000020.11:58854187:C:T p.(Arg246Cys) NC_000020.11:58854187:C:T Identity +NM_000341.4:c.1A>G NP_000332.2:p.Met1Val NC_000002.12:44275535:A:G p.(Met1Val) NC_000002.12:44275535:A:G p.Met1? NC_000002.12:44275535:A:G Identity +NM_001994.3:c.943C>T NP_001985.2:p.Arg315Cys NC_000001.11:197057327:G:A p.(Arg315Cys) NC_000001.11:197057327:G:A p.(Arg315Cys) NC_000001.11:197057327:G:A Identity +NM_000750.5:c.560C>T NP_000741.1:p.Thr187Met NC_000015.10:78629744:G:A p.(Thr187Met) NC_000015.10:78629744:G:A p.(Thr187Met) NC_000015.10:78629744:G:A Identity +NM_000091.5:c.1038T>A NP_000082.2:p.Tyr346Ter NC_000002.12:227259800:T:A p.(Tyr346Ter) NC_000002.12:227259800:T:A p.(Tyr346Ter) NC_000002.12:227259800:T:A Identity +NM_000339.3:c.378del NP_000330.3:p.Ser126fs NC_000016.10:56867164:C: p.(Ser126ArgfsTer17) NC_000016.10:56867164:C: p.(Ser126ArgfsTer17) NC_000016.10:56867164:C: Analogous +NM_001256850.1:c.29176C>T NP_001243779.1:p.His9726Tyr NC_000002.12:178704242:G:A p.(His9726Tyr) NC_000002.12:178704242:G:A p.(His9726Tyr) NC_000002.12:178704242:G:A Identity +NM_001005505.3:c.2268C>A NP_001005505.1:p.Asp756Glu NC_000003.12:50367670:G:T p.(Asp756Glu) NC_000003.12:50367670:G:T p.(Asp756Glu) NC_000003.12:50367670:G:T Identity +NM_001167595.2:c.983C>T NP_001161067.1:p.Ala328Val NC_000005.10:33989258:G:A p.(Ala328Val) NC_000005.10:33989258:G:A p.(Ala328Val) NC_000005.10:33989258:G:A Identity +NM_002317.7:c.126G>C NP_002308.2:p.Trp42Cys NC_000005.10:122077859:C:G p.(Trp42Cys) NC_000005.10:122077859:C:G p.(Trp42Cys) NC_000005.10:122077859:C:G Identity +NM_002907.4:c.775A>G NP_002898.2:p.Asn259Asp NC_000012.12:21477894:T:C p.(Asn259Asp) NC_000012.12:21477894:T:C p.(Asn259Asp) NC_000012.12:21477894:T:C Identity +NM_170606.3:c.12250A>G NP_733751.2:p.Ile4084Val NC_000007.14:152154035:T:C p.(Ile4084Val) NC_000007.14:152154035:T:C p.(Ile4084Val) NC_000007.14:152154035:T:C Identity +NM_014712.3:c.2011G>A NP_055527.1:p.Ala671Thr NC_000016.10:30965891:G:A p.(Ala671Thr) NC_000016.10:30965891:G:A p.(Ala671Thr) NC_000016.10:30965891:G:A Identity +NM_000162.5:c.324C>A NP_000153.1:p.Tyr108Ter NC_000007.14:44152309:G:T p.(Tyr108Ter) NC_000007.14:44152309:G:T p.(Tyr108Ter) NC_000007.14:44152309:G:T Identity +NM_001256584.2:c.85G>A NP_001243513.1:p.Glu29Lys NC_000002.12:126693904:G:A p.(Glu29Lys) NC_000002.12:126693904:G:A p.(Glu29Lys) NC_000002.12:126693904:G:A Identity +NM_001256850.1:c.63136G>T NP_001243779.1:p.Val21046Leu NC_000002.12:178578970:C:A p.(Val21046Leu) NC_000002.12:178578970:C:A p.(Val21046Leu) NC_000002.12:178578970:C:A Identity +NM_198578.4:c.4976C>G NP_940980.4:p.Ala1659Gly NC_000012.12:40320135:C:G p.(Ala1659Gly) NC_000012.12:40320135:C:G p.(Ala1659Gly) NC_000012.12:40320135:C:G Identity +NM_001002009.3:c.886A>G NP_001002009.1:p.Ile296Val NC_000007.14:33014737:T:C p.(Ile296Val) NC_000007.14:33014737:T:C p.(Ile296Val) NC_000007.14:33014737:T:C Identity +NM_001190906.2:c.406G>A NP_001177835.1:p.Glu136Lys NC_000007.14:138097892:G:A p.(Glu136Lys) NC_000007.14:138097892:G:A p.(Glu136Lys) NC_000007.14:138097892:G:A Identity +NM_001177310.2:c.5600G>T NP_001170781.1:p.Trp1867Leu NC_000009.12:74738567:C:A p.(Trp1867Leu) NC_000009.12:74738567:C:A p.(Trp1867Leu) NC_000009.12:74738567:C:A Identity +NM_000093.5:c.64C>G NP_000084.3:p.Pro22Ala NC_000009.12:134642250:C:G p.(Pro22Ala) NC_000009.12:134642250:C:G p.(Pro22Ala) NC_000009.12:134642250:C:G Identity +NM_001289807.1:c.158C>T NP_001276736.1:p.Ser53Phe NC_000011.10:111911566:G:A p.(Ser53Phe) NC_000011.10:111911566:G:A p.(Ser53Phe) NC_000011.10:111911566:G:A Identity +NM_000190.4:c.520C>T NP_000181.2:p.Leu174Phe NC_000011.10:119091433:C:T p.(Leu174Phe) NC_000011.10:119091433:C:T p.(Leu174Phe) NC_000011.10:119091433:C:T Identity +NM_001167962.2:c.1969C>T NP_001161434.1:p.Arg657Trp NC_000007.14:103374568:G:A p.(Arg657Trp) NC_000007.14:103374568:G:A p.(Arg657Trp) NC_000007.14:103374568:G:A Identity +NM_000037.4:c.2915C>A NP_000028.3:p.Ala972Asp NC_000008.11:41696407:G:T p.(Ala972Asp) NC_000008.11:41696407:G:T p.(Ala972Asp) NC_000008.11:41696407:G:T Identity +NM_000155.4:c.371G>T NP_000146.2:p.Gly124Val NC_000009.12:34647698:G:T p.(Gly124Val) NC_000009.12:34647698:G:T p.(Gly124Val) NC_000009.12:34647698:G:T Identity +NM_000155.4:c.739G>C NP_000146.2:p.Ala247Pro NC_000009.12:34648812:G:C p.(Ala247Pro) NC_000009.12:34648812:G:C p.(Ala247Pro) NC_000009.12:34648812:G:C Identity +NM_021942.6:c.1186T>C NP_068761.4:p.Ser396Pro NC_000004.12:183682803:T:C p.(Ser396Pro) NC_000004.12:183682803:T:C p.(Ser396Pro) NC_000004.12:183682803:T:C Identity +NM_001080516.2:c.449A>C NP_001073985.1:p.Glu150Ala NC_000005.10:145866615:T:G p.(Glu150Ala) NC_000005.10:145866615:T:G p.(Glu150Ala) NC_000005.10:145866615:T:G Identity +NM_000443.4:c.924A>G NP_000434.1:p.Ile308Met NC_000007.14:87447114:T:C p.(Ile308Met) NC_000007.14:87447114:T:C p.(Ile308Met) NC_000007.14:87447114:T:C Identity +NM_000119.3:c.179G>A NP_000110.2:p.Arg60His NC_000015.10:43216374:C:T p.(Arg60His) NC_000015.10:43216374:C:T p.(Arg60His) NC_000015.10:43216374:C:T Identity +NM_001321924.2:c.946G>A NP_001308853.1:p.Glu316Lys NC_000015.10:64445065:G:A p.(Glu316Lys) NC_000015.10:64445065:G:A p.(Glu316Lys) NC_000015.10:64445065:G:A Identity +NM_001199378.2:c.684G>T NP_001186307.1:p.Lys228Asn NC_000010.11:102358082:G:T p.(Lys228Asn) NC_000010.11:102358082:G:T p.(Lys228Asn) NC_000010.11:102358082:G:T Identity +NM_001098816.3:c.974G>A NP_001092286.2:p.Arg325Gln NC_000011.10:78889894:C:T p.(Arg325Gln) NC_000011.10:78889894:C:T p.(Arg325Gln) NC_000011.10:78889894:C:T Identity +NM_001282944.2:c.1084G>A NP_001269873.1:p.Ala362Thr NC_000009.12:136423162:G:A p.(Ala362Thr) NC_000009.12:136423162:G:A p.(Ala362Thr) NC_000009.12:136423162:G:A Identity +NM_001278055.2:c.5567A>C NP_001264984.1:p.Asp1856Ala NC_000013.11:23337867:T:G p.(Asp1856Ala) NC_000013.11:23337867:T:G p.(Asp1856Ala) NC_000013.11:23337867:T:G Identity +NM_000293.3:c.1363G>C NP_000284.1:p.Ala455Pro NC_000016.10:47596530:G:C p.(Ala455Pro) NC_000016.10:47596530:G:C p.(Ala455Pro) NC_000016.10:47596530:G:C Identity +NM_001024858.4:c.1573G>A NP_001020029.1:p.Glu525Lys NC_000014.9:64795407:C:T p.(Glu525Lys) NC_000014.9:64795407:C:T p.(Glu525Lys) NC_000014.9:64795407:C:T Identity +NM_001317830.2:c.1738del NP_001304759.1:p.Leu580fs NC_000008.11:74244695:G: p.(Leu580TrpfsTer16) NC_000008.11:74244695:G: p.(Leu580TrpfsTer16) NC_000008.11:74244695:G: Analogous +NM_001354663.2:c.2269_2273del NP_001341592.1:p.Phe757fs NC_000003.12:193666316:TTGTTTTG:TTG p.(Phe757AlafsTer21) NC_000003.12:193666316:TTGTTTTG:TTG p.(Phe757AlafsTer21) NC_000003.12:193666319:TTTTG: Analogous +NM_000132.4:c.5101G>A NP_000123.1:p.Glu1701Lys NC_000023.11:154928688:C:T p.(Glu1701Lys) NC_000023.11:154928688:C:T p.(Glu1701Lys) NC_000023.11:154928688:C:T Identity +NM_014599.6:c.343G>C NP_055414.2:p.Ala115Pro NC_000023.11:54810018:G:C p.(Ala115Pro) NC_000023.11:54810018:G:C p.(Ala115Pro) NC_000023.11:54810018:G:C Identity +NM_000118.4:c.1078C>T NP_000109.1:p.Gln360Ter NC_000009.12:127824359:G:A p.(Gln360Ter) NC_000009.12:127824359:G:A p.(Gln360Ter) NC_000009.12:127824359:G:A Identity +NM_000546.6:c.1039del NP_000537.3:p.Ala347fs NC_000017.11:7670669:CC:C p.(Ala347ProfsTer23) NC_000017.11:7670669:CC:C p.(Ala347ProfsTer23) NC_000017.11:7670669:C: Analogous +NM_001122670.2:c.674A>G NP_001116142.1:p.Gln225Arg NC_000023.11:72667417:T:C p.(Gln225Arg) NC_000023.11:72667417:T:C p.(Gln225Arg) NC_000023.11:72667417:T:C Identity +NM_001128166.3:c.574G>A NP_001121638.1:p.Ala192Thr NC_000023.11:111163019:G:A p.(Ala192Thr) NC_000023.11:111163019:G:A p.(Ala192Thr) NC_000023.11:111163019:G:A Identity +NM_001042702.5:c.124C>T NP_001036167.1:p.Arg42Ter NC_000002.12:178453532:C:T p.(Arg42Ter) NC_000002.12:178453532:C:T p.(Arg42Ter) NC_000002.12:178453532:C:T Identity +NM_001244644.2:c.495A>T NP_001231573.1:p.Gln165His NC_000003.12:87253797:A:T p.(Gln165His) NC_000003.12:87253797:A:T p.(Gln165His) NC_000003.12:87253797:A:T Identity +NM_000038.6:c.7658_7661dup NP_000029.2:p.His2554fs NC_000005.10:112843249:CAAACA:CAAACAAACA p.(His2554GlnfsTer30) NC_000005.10:112843249:CAAACA:CAAACAAACA p.(His2554GlnfsTer30) ERR:SPDI Analogous +NM_015346.4:c.5989C>T NP_056161.2:p.Gln1997Ter NC_000014.9:67766248:G:A p.(Gln1997Ter) NC_000014.9:67766248:G:A p.(Gln1997Ter) NC_000014.9:67766248:G:A Identity +NM_000157.4:c.685G>A NP_000148.2:p.Ala229Thr NC_000001.11:155238209:C:T p.(Ala229Thr) NC_000001.11:155238209:C:T p.(Ala229Thr) NC_000001.11:155238209:C:T Identity +NM_006158.5:c.760del NP_006149.2:p.Leu254fs NC_000008.11:24955755:GG:G p.(Leu254PhefsTer34) NC_000008.11:24955755:GG:G p.(Leu254PhefsTer34) NC_000008.11:24955755:G: Analogous +NM_000129.4:c.232C>T NP_000120.2:p.Arg78Cys NC_000006.12:6305437:G:A p.(Arg78Cys) NC_000006.12:6305437:G:A p.(Arg78Cys) NC_000006.12:6305437:G:A Identity +NM_001278064.2:c.3202C>T NP_001264993.1:p.Pro1068Ser NC_000006.12:146434412:C:T p.(Pro1068Ser) NC_000006.12:146434412:C:T p.(Pro1068Ser) NC_000006.12:146434412:C:T Identity +NM_000296.4:c.9013C>T NP_000287.4:p.Gln3005Ter NC_000016.10:2102568:G:A p.(Gln3005Ter) NC_000016.10:2102568:G:A p.(Gln3005Ter) NC_000016.10:2102568:G:A Identity +NM_001099952.4:c.7682A>C NP_001093422.2:p.Gln2561Pro NC_000003.12:4815176:A:C p.(Gln2561Pro) NC_000003.12:4815176:A:C p.(Gln2561Pro) NC_000003.12:4815176:A:C Identity +NM_198578.4:c.2299C>T NP_940980.4:p.Arg767Cys NC_000012.12:40283931:C:T p.(Arg767Cys) NC_000012.12:40283931:C:T p.(Arg767Cys) NC_000012.12:40283931:C:T Identity +NM_001278055.2:c.6675del NP_001264984.1:p.Gln2226fs NC_000013.11:23336759:A: p.(Gln2226SerfsTer19) NC_000013.11:23336759:A: p.(Gln2226SerfsTer19) NC_000013.11:23336759:A: Analogous +NM_000901.5:c.2438C>T NP_000892.2:p.Ala813Val NC_000004.12:148152540:G:A p.(Ala813Val) NC_000004.12:148152540:G:A p.(Ala813Val) NC_000004.12:148152540:G:A Identity +NM_000033.4:c.1454C>A NP_000024.2:p.Ser485Ter NC_000023.11:153737216:C:A p.(Ser485Ter) NC_000023.11:153737216:C:A p.(Ser485Ter) NC_000023.11:153737216:C:A Identity +NM_000020.3:c.180del NP_000011.2:p.Arg61fs NC_000012.12:51913213:GGGG:GGG p.(Arg61GlyfsTer61) NC_000012.12:51913213:GGGG:GGG p.(Arg61GlyfsTer61) NC_000012.12:51913216:G: Analogous +NM_000314.8:c.368del NP_000305.3:p.His123fs NC_000010.11:87933126:A: p.(His123ProfsTer11) NC_000010.11:87933126:A: p.(His123ProfsTer11) NC_000010.11:87933126:A: Analogous +NM_000314.8:c.409dup NP_000305.3:p.Ala137fs NC_000010.11:87933167:G:GG p.(Ala137GlyfsTer43) NC_000010.11:87933167:G:GG p.(Ala137GlyfsTer43) ERR:SPDI Analogous +NM_000314.8:c.433T>G NP_000305.3:p.Phe145Val NC_000010.11:87933191:T:G p.(Phe145Val) NC_000010.11:87933191:T:G p.(Phe145Val) NC_000010.11:87933191:T:G Identity +NM_000314.8:c.481A>G NP_000305.3:p.Arg161Gly NC_000010.11:87933239:A:G p.(Arg161Gly) NC_000010.11:87933239:A:G p.(Arg161Gly) NC_000010.11:87933239:A:G Identity +NM_000546.6:c.460_462delinsAT NP_000537.3:p.Gly154fs NC_000017.11:7675149:GCC:AT p.(Gly154IlefsTer16) NC_000017.11:7675149:GCCG:GAT p.(Gly154IlefsTer16) NC_000017.11:7675149:GCC:AT Analogous +NM_003482.4:c.13622A>G NP_003473.3:p.Lys4541Arg NC_000012.12:49030941:T:C p.(Lys4541Arg) NC_000012.12:49030941:T:C p.(Lys4541Arg) NC_000012.12:49030941:T:C Identity +NM_003742.4:c.307C>T NP_003733.2:p.Pro103Ser NC_000002.12:169013353:G:A p.(Pro103Ser) NC_000002.12:169013353:G:A p.(Pro103Ser) NC_000002.12:169013353:G:A Identity +NM_001080463.2:c.11471T>C NP_001073932.1:p.Phe3824Ser NC_000011.10:103307787:T:C p.(Phe3824Ser) NC_000011.10:103307787:T:C p.(Phe3824Ser) NC_000011.10:103307787:T:C Identity +NM_000037.4:c.2294C>T NP_000028.3:p.Ser765Leu NC_000008.11:41704041:G:A p.(Ser765Leu) NC_000008.11:41704041:G:A p.(Ser765Leu) NC_000008.11:41704041:G:A Identity +NM_001256627.2:c.1563G>A NP_001243556.1:p.Trp521Ter NC_000011.10:1454502:G:A p.(Trp521Ter) NC_000011.10:1454502:G:A p.(Trp521Ter) NC_000011.10:1454502:G:A Identity +NM_001424113.1:c.8170C>T NP_001411042.1:p.Pro2724Ser NC_000006.12:75106426:G:A p.(Pro2724Ser) NC_000006.12:75106426:G:A p.(Pro2724Ser) NC_000006.12:75106426:G:A Identity +NM_001079846.1:c.6251A>C NP_001073315.1:p.Gln2084Pro NC_000016.10:3728681:T:G p.(Gln2084Pro) NC_000016.10:3728681:T:G p.(Gln2084Pro) NC_000016.10:3728681:T:G Identity +NM_018963.5:c.480del NP_061836.2:p.Cys161fs NC_000021.9:39295871:CCC:CC p.(Cys161ValfsTer16) NC_000021.9:39295871:CCC:CC p.(Cys161ValfsTer16) NC_000021.9:39295871:C: Analogous +NM_001171930.2:c.407C>A NP_001165401.1:p.Pro136His NC_000010.11:71511189:C:A p.(Pro136His) NC_000010.11:71511189:C:A p.(Pro136His) NC_000010.11:71511189:C:A Identity +NM_001365264.1:c.364G>C NP_001352193.1:p.Gly122Arg NC_000016.10:68234070:C:G p.(Gly122Arg) NC_000016.10:68234070:C:G p.(Gly122Arg) NC_000016.10:68234070:C:G Identity +NM_001079802.2:c.875G>C NP_001073270.1:p.Gly292Ala NC_000009.12:105615371:G:C p.(Gly292Ala) NC_000009.12:105615371:G:C p.(Gly292Ala) NC_000009.12:105615371:G:C Identity +NM_000037.4:c.4370G>A NP_000028.3:p.Arg1457His NC_000008.11:41686171:C:T p.(Arg1457His) NC_000008.11:41686171:C:T p.(Arg1457His) NC_000008.11:41686171:C:T Identity +NM_001347839.2:c.3764G>A NP_001334768.1:p.Gly1255Asp NC_000012.12:45851886:G:A p.(Gly1255Asp) NC_000012.12:45851886:G:A p.(Gly1255Asp) NC_000012.12:45851886:G:A Identity +NM_000077.5:c.239G>C NP_000068.1:p.Arg80Pro NC_000009.12:21971119:C:G p.(Arg80Pro) NC_000009.12:21971119:C:G p.(Arg80Pro) NC_000009.12:21971119:C:G Identity +NM_020780.2:c.1854_1855del NP_065831.1:p.Tyr619fs NC_000001.11:11517564:CTCT:CT p.(Tyr619ProfsTer49) NC_000001.11:11517564:CTCT:CT p.(Tyr619ProfsTer49) NC_000001.11:11517566:CT: Analogous +NM_003923.3:c.620C>T NP_003914.1:p.Pro207Leu NC_000008.11:144474715:G:A p.(Pro207Leu) NC_000008.11:144474715:G:A p.(Pro207Leu) NC_000008.11:144474715:G:A Identity +NM_002136.4:c.758A>G NP_002127.1:p.Asn253Ser NC_000012.12:54283817:A:G p.(Asn253Ser) NC_000012.12:54283817:A:G p.(Asn253Ser) NC_000012.12:54283817:A:G Identity +NM_001369786.1:c.152G>C NP_001356715.1:p.Cys51Ser NC_000012.12:25227371:C:G p.(Cys51Ser) NC_000012.12:25227371:C:G p.(Cys51Ser) NC_000012.12:25227371:C:G Identity +NM_001079518.2:c.252G>C NP_001072986.1:p.Leu84Phe NC_000017.11:40035756:C:G p.(Leu84Phe) NC_000017.11:40035756:C:G p.(Leu84Phe) NC_000017.11:40035756:C:G Identity +NM_004369.4:c.3092T>C NP_004360.2:p.Val1031Ala NC_000002.12:237374998:A:G p.(Val1031Ala) NC_000002.12:237374998:A:G p.(Val1031Ala) NC_000002.12:237374998:A:G Identity +NM_005618.4:c.140G>A NP_005609.3:p.Gly47Glu NC_000006.12:170289722:C:T p.(Gly47Glu) NC_000006.12:170289722:C:T p.(Gly47Glu) NC_000006.12:170289722:C:T Identity +NM_001354705.2:c.1550G>A NP_001341634.1:p.Arg517Gln NC_000012.12:57575183:G:A p.(Arg517Gln) NC_000012.12:57575183:G:A p.(Arg517Gln) NC_000012.12:57575183:G:A Identity +NM_001135943.2:c.2329T>G NP_001129415.1:p.Ser777Ala NC_000011.10:47285496:T:G p.(Ser777Ala) NC_000011.10:47285496:T:G p.(Ser777Ala) NC_000011.10:47285496:T:G Identity +NM_001164507.2:c.25501G>A NP_001157979.2:p.Glu8501Lys NC_000002.12:151485836:C:T p.(Glu8501Lys) NC_000002.12:151485836:C:T p.(Glu8501Lys) NC_000002.12:151485836:C:T Identity +NM_001281301.2:c.472G>A NP_001268230.1:p.Val158Ile NC_000015.10:69426136:G:A p.(Val158Ile) NC_000015.10:69426136:G:A p.(Val158Ile) NC_000015.10:69426136:G:A Identity +NM_015057.5:c.3G>C NP_055872.4:p.Met1Ile NC_000013.11:77326772:C:G p.(Met1Ile) NC_000013.11:77326772:C:G p.Met1? NC_000013.11:77326772:C:G Identity +NM_001354648.2:c.446A>G NP_001341577.1:p.Asn149Ser NC_000003.12:9751829:A:G p.(Asn149Ser) NC_000003.12:9751829:A:G p.(Asn149Ser) NC_000003.12:9751829:A:G Identity +NM_019066.5:c.3720C>A NP_061939.3:p.His1240Gln NC_000015.10:23644022:G:T p.(His1240Gln) NC_000015.10:23644022:G:T p.(His1240Gln) NC_000015.10:23644022:G:T Identity +NM_015057.5:c.2279A>G NP_055872.4:p.Lys760Arg NC_000013.11:77251252:T:C p.(Lys760Arg) NC_000013.11:77251252:T:C p.(Lys760Arg) NC_000013.11:77251252:T:C Identity +NM_001142864.4:c.2627T>A NP_001136336.2:p.Val876Asp NC_000016.10:88733314:A:T p.(Val876Asp) NC_000016.10:88733314:A:T p.(Val876Asp) NC_000016.10:88733314:A:T Identity +NM_001142864.4:c.5035G>A NP_001136336.2:p.Val1679Met NC_000016.10:88721986:C:T p.(Val1679Met) NC_000016.10:88721986:C:T p.(Val1679Met) NC_000016.10:88721986:C:T Identity +NM_001142864.4:c.2009T>G NP_001136336.2:p.Leu670Arg NC_000016.10:88734526:A:C p.(Leu670Arg) NC_000016.10:88734526:A:C p.(Leu670Arg) NC_000016.10:88734526:A:C Identity +NM_000304.4:c.109G>C NP_000295.1:p.Asp37His NC_000017.11:15259162:C:G p.(Asp37His) NC_000017.11:15259162:C:G p.(Asp37His) NC_000017.11:15259162:C:G Identity +NM_001144881.2:c.2053A>G NP_001138353.1:p.Asn685Asp NC_000012.12:42460251:T:C p.(Asn685Asp) NC_000012.12:42460251:T:C p.(Asn685Asp) NC_000012.12:42460251:T:C Identity +NM_001280547.2:c.914G>A NP_001267476.1:p.Ser305Asn NC_000009.12:36846925:C:T p.(Ser305Asn) NC_000009.12:36846925:C:T p.(Ser305Asn) NC_000009.12:36846925:C:T Identity +NM_001142864.4:c.7168C>T NP_001136336.2:p.Arg2390Trp NC_000016.10:88716080:G:A p.(Arg2390Trp) NC_000016.10:88716080:G:A p.(Arg2390Trp) NC_000016.10:88716080:G:A Identity +NM_138694.4:c.1900G>A NP_619639.3:p.Gly634Ser NC_000006.12:52054101:C:T p.(Gly634Ser) NC_000006.12:52054101:C:T p.(Gly634Ser) NC_000006.12:52054101:C:T Identity +NM_001163940.2:c.2344C>T NP_001157412.1:p.Arg782Ter NC_000014.9:50905489:G:A p.(Arg782Ter) NC_000014.9:50905489:G:A p.(Arg782Ter) NC_000014.9:50905489:G:A Identity +NM_000540.3:c.14078C>T NP_000531.2:p.Pro4693Leu NC_000019.10:38573255:C:T p.(Pro4693Leu) NC_000019.10:38573255:C:T p.(Pro4693Leu) NC_000019.10:38573255:C:T Identity +NM_020717.5:c.3044A>G NP_065768.2:p.Tyr1015Cys NC_000023.11:50608097:T:C p.(Tyr1015Cys) NC_000023.11:50608097:T:C p.(Tyr1015Cys) NC_000023.11:50608097:T:C Identity +NM_005876.5:c.2372G>A NP_005867.3:p.Ser791Asn NC_000002.12:219451738:G:A p.(Ser791Asn) NC_000002.12:219451738:G:A p.(Ser791Asn) NC_000002.12:219451738:G:A Identity +NM_004179.3:c.1183C>T NP_004170.1:p.Arg395Cys NC_000011.10:18021142:G:A p.(Arg395Cys) NC_000011.10:18021142:G:A p.(Arg395Cys) NC_000011.10:18021142:G:A Identity +NM_033071.5:c.7489A>G NP_149062.2:p.Thr2497Ala NC_000006.12:152396862:T:C p.(Thr2497Ala) NC_000006.12:152396862:T:C p.(Thr2497Ala) NC_000006.12:152396862:T:C Identity +NM_001385142.1:c.628G>A NP_001372071.1:p.Val210Ile NC_000014.9:102886245:G:A p.(Val210Ile) NC_000014.9:102886245:G:A p.(Val210Ile) NC_000014.9:102886245:G:A Identity +NM_021942.6:c.2989A>G NP_068761.4:p.Ile997Val NC_000004.12:183705003:A:G p.(Ile997Val) NC_000004.12:183705003:A:G p.(Ile997Val) NC_000004.12:183705003:A:G Identity +NM_001256850.1:c.60577G>A NP_001243779.1:p.Ala20193Thr NC_000002.12:178583681:C:T p.(Ala20193Thr) NC_000002.12:178583681:C:T p.(Ala20193Thr) NC_000002.12:178583681:C:T Identity +NM_001256850.1:c.84292G>C NP_001243779.1:p.Ala28098Pro NC_000002.12:178553789:C:G p.(Ala28098Pro) NC_000002.12:178553789:C:G p.(Ala28098Pro) NC_000002.12:178553789:C:G Identity +NM_000197.2:c.252del NP_000188.1:p.Lys84fs NC_000009.12:96254892:TTTTT:TTTT p.(Lys84AsnfsTer2) NC_000009.12:96254892:TTTTT:TTTT p.(Lys84AsnfsTer2) NC_000009.12:96254892:T: Analogous +NM_001256850.1:c.94739T>C NP_001243779.1:p.Ile31580Thr NC_000002.12:178537544:A:G p.(Ile31580Thr) NC_000002.12:178537544:A:G p.(Ile31580Thr) NC_000002.12:178537544:A:G Identity +NM_001029896.2:c.364C>G NP_001025067.1:p.Arg122Gly NC_000023.11:49076501:G:C p.(Arg122Gly) NC_000023.11:49076501:G:C p.(Arg122Gly) NC_000023.11:49076501:G:C Identity +NM_001286085.2:c.784C>T NP_001273014.1:p.Gln262Ter NC_000016.10:56975133:C:T p.(Gln262Ter) NC_000016.10:56975133:C:T p.(Gln262Ter) NC_000016.10:56975133:C:T Identity +NM_001193455.2:c.1093_1096dup NP_001180384.1:p.Leu366fs NC_000005.10:6610979:GCTT:GCTTGCTT p.(Leu366GlnfsTer12) NC_000005.10:6610979:GCTT:GCTTGCTT p.(Leu366GlnfsTer12) ERR:SPDI Analogous +NM_018192.4:c.297dup NP_060662.2:p.Gly100fs NC_000003.12:190120434:GGGGGG:GGGGGGG p.(Gly100ArgfsTer7) NC_000003.12:190120434:GGGGGG:GGGGGGG p.(Gly100ArgfsTer7) ERR:SPDI Analogous +NM_000143.4:c.1483G>T NP_000134.2:p.Glu495Ter NC_000001.11:241497877:C:A p.(Glu495Ter) NC_000001.11:241497877:C:A p.(Glu495Ter) NC_000001.11:241497877:C:A Identity +NM_001308164.2:c.1250T>C NP_001295093.1:p.Leu417Pro NC_000003.12:158659030:T:C p.(Leu417Pro) NC_000003.12:158659030:T:C p.(Leu417Pro) NC_000003.12:158659030:T:C Identity +NM_001308258.2:c.796del NP_001295187.1:p.Leu266fs NC_000003.12:149153538:C: p.(Leu266PhefsTer3) NC_000003.12:149153538:C: p.(Leu266PhefsTer3) NC_000003.12:149153538:C: Analogous +NM_001308258.2:c.1329_1330del NP_001295187.1:p.Phe443fs NC_000003.12:149158795:TTTT:TT p.(Phe443LeufsTer3) NC_000003.12:149158795:TTTT:TT p.(Phe443LeufsTer3) NC_000003.12:149158797:TT: Analogous +NM_000414.4:c.25_44del NP_000405.1:p.Gly9fs NC_000005.10:119452597:ACGGGCGGGTGGTACTGGTCAC:AC p.(Gly9ArgfsTer25) NC_000005.10:119452597:ACGGGCGGGTGGTACTGGTCAC:AC p.(Gly9ArgfsTer25) NC_000005.10:119452599:GGGCGGGTGGTACTGGTCAC: Analogous +NM_000528.4:c.1223_1224delinsAA NP_000519.2:p.Phe408Ter NC_000019.10:12658229:GA:TT p.(Phe408Ter) NC_000019.10:12658229:GA:TT p.(Phe408Ter) NC_000019.10:12658229:GA:TT Identity +NM_001376472.1:c.949_952del NP_001363401.1:p.Gly317fs NC_000022.11:50064140:GGCCGGCC:GGCC p.(Gly317SerfsTer42) NC_000022.11:50064140:GGCCGGCC:GGCC p.(Gly317SerfsTer42) NC_000022.11:50064140:GGCC: Analogous +NM_000251.3:c.2258G>T NP_000242.1:p.Gly753Val NC_000002.12:47478318:G:T p.(Gly753Val) NC_000002.12:47478318:G:T p.(Gly753Val) NC_000002.12:47478318:G:T Identity +NM_001330358.2:c.1670dup NP_001317287.1:p.Thr558fs NC_000001.11:11792362:AAAAA:AAAAAA p.(Thr558HisfsTer21) NC_000001.11:11792362:AAAAA:AAAAAA p.(Thr558HisfsTer21) ERR:SPDI Analogous +NM_001364440.2:c.1508dup NP_001351369.1:p.Asn504fs NC_000005.10:7892862:CC:CCC p.(Asn504LysfsTer7) NC_000005.10:7892862:CC:CCC p.(Asn504LysfsTer7) ERR:SPDI Analogous +NM_000287.4:c.1036C>T NP_000278.3:p.Gln346Ter NC_000006.12:42974884:G:A p.(Gln346Ter) NC_000006.12:42974884:G:A p.(Gln346Ter) NC_000006.12:42974884:G:A Identity +NM_138694.4:c.6702C>A NP_619639.3:p.Cys2234Ter NC_000006.12:51906320:G:T p.(Cys2234Ter) NC_000006.12:51906320:G:T p.(Cys2234Ter) NC_000006.12:51906320:G:T Identity +NM_138694.4:c.11770del NP_619639.3:p.Thr3924fs NC_000006.12:51627011:T: p.(Thr3924LeufsTer7) NC_000006.12:51627011:T: p.(Thr3924LeufsTer7) NC_000006.12:51627011:T: Analogous +NM_138694.4:c.1497del NP_619639.3:p.Arg499fs NC_000006.12:52058337:CC:C p.(Arg499SerfsTer8) NC_000006.12:52058337:CC:C p.(Arg499SerfsTer8) NC_000006.12:52058337:C: Analogous +NM_000303.3:c.365del NP_000294.1:p.Phe122fs NC_000016.10:8811094:TT:T p.(Phe122SerfsTer6) NC_000016.10:8811094:TT:T p.(Phe122SerfsTer6) NC_000016.10:8811095:T: Analogous +NM_006231.4:c.1268A>G NP_006222.2:p.Asn423Ser NC_000012.12:132673665:T:C p.(Asn423Ser) NC_000012.12:132673665:T:C p.(Asn423Ser) NC_000012.12:132673665:T:C Identity +NM_001353193.2:c.713_716dup NP_001340122.2:p.Gln239fs NC_000009.12:131510009:TCCA:TCCATCCA p.(Gln239HisfsTer116) NC_000009.12:131510009:TCCA:TCCATCCA p.(Gln239HisfsTer116) ERR:SPDI Analogous +NM_005732.4:c.3058del NP_005723.2:p.Asp1020fs NC_000005.10:132616023:G: p.(Asp1020IlefsTer5) NC_000005.10:132616023:G: p.(Asp1020IlefsTer5) NC_000005.10:132616023:G: Analogous +NM_001142571.2:c.195G>T NP_001136043.1:p.Gln65His NC_000017.11:35116986:C:A p.(Gln65His) NC_000017.11:35116986:C:A p.(Gln65His) NC_000017.11:35116986:C:A Identity +NM_001350509.2:c.946C>T NP_001337438.1:p.Gln316Ter NC_000006.12:87518208:G:A p.(Gln316Ter) NC_000006.12:87518208:G:A p.(Gln316Ter) NC_000006.12:87518208:G:A Identity +NM_001005498.4:c.1212C>A NP_001005498.2:p.His404Gln NC_000017.11:76475044:G:T p.(His404Gln) NC_000017.11:76475044:G:T p.(His404Gln) NC_000017.11:76475044:G:T Identity +NM_000329.3:c.208T>G NP_000320.1:p.Phe70Val NC_000001.11:68446746:A:C p.(Phe70Val) NC_000001.11:68446746:A:C p.(Phe70Val) NC_000001.11:68446746:A:C Identity +NM_000023.4:c.20G>A NP_000014.1:p.Trp7Ter NC_000017.11:50166059:G:A p.(Trp7Ter) NC_000017.11:50166059:G:A p.(Trp7Ter) NC_000017.11:50166059:G:A Identity +NM_000023.4:c.762del NP_000014.1:p.Pro255fs NC_000017.11:50170156:G: p.(Pro255ArgfsTer66) NC_000017.11:50170156:G: p.(Pro255ArgfsTer66) NC_000017.11:50170156:G: Analogous +NM_000199.5:c.691_698del NP_000190.1:p.Ala231fs NC_000017.11:80213850:CGGGCTGCCGGG:CGGG p.(Ala231SerfsTer26) NC_000017.11:80213850:CGGGCTGCCGGG:CGGG p.(Ala231SerfsTer26) NC_000017.11:80213850:CGGGCTGC: Analogous +NM_000048.4:c.329dup NP_000039.2:p.Arg111fs NC_000007.14:66082914:GGG:GGGG p.(Arg111ThrfsTer5) NC_000007.14:66082914:GGG:GGGG p.(Arg111ThrfsTer5) ERR:SPDI Analogous +NM_001160210.2:c.505C>T NP_001153682.1:p.Gln169Ter NC_000007.14:96193146:G:A p.(Gln169Ter) NC_000007.14:96193146:G:A p.(Gln169Ter) NC_000007.14:96193146:G:A Identity +NM_001407041.1:c.1515dup NP_001393970.1:p.Val506fs NC_000018.10:51078319:TTTT:TTTTT p.(Val506CysfsTer21) NC_000018.10:51078319:TTTT:TTTTT p.(Val506CysfsTer21) ERR:SPDI Analogous +NM_001193376.3:c.698C>T NP_001180305.1:p.Pro233Leu NC_000005.10:1294187:G:A p.(Pro233Leu) NC_000005.10:1294187:G:A p.(Pro233Leu) NC_000005.10:1294187:G:A Identity +NM_000360.4:c.1141C>T NP_000351.2:p.Gln381Ter NC_000011.10:2165726:G:A p.(Gln381Ter) NC_000011.10:2165726:G:A p.(Gln381Ter) NC_000011.10:2165726:G:A Identity +NM_000368.5:c.1076C>T NP_000359.1:p.Pro359Leu NC_000009.12:132911066:G:A p.(Pro359Leu) NC_000009.12:132911066:G:A p.(Pro359Leu) NC_000009.12:132911066:G:A Identity +NM_206933.4:c.12086dup NP_996816.3:p.His4029fs NC_000001.11:215680356:T:TT p.(His4029GlnfsTer70) NC_000001.11:215680356:T:TT p.(His4029GlnfsTer70) ERR:SPDI Analogous +NM_007123.6:c.1479del NP_009054.6:p.Tyr494fs NC_000001.11:216323544:G: p.(Tyr494IlefsTer97) NC_000001.11:216323544:G: p.(Tyr494IlefsTer97) NC_000001.11:216323544:G: Analogous +NM_000053.4:c.3437_3438del NP_000044.2:p.Val1146fs NC_000013.11:51941198:CACA:CA p.(Val1146AlafsTer6) NC_000013.11:51941198:CACA:CA p.(Val1146AlafsTer6) NC_000013.11:51941198:CA: Analogous +NM_006516.4:c.37A>C NP_006507.2:p.Met13Leu NC_000001.11:42943302:T:G p.(Met13Leu) NC_000001.11:42943302:T:G p.(Met13Leu) NC_000001.11:42943302:T:G Identity +NM_001365999.1:c.5902C>G NP_001352928.1:p.Gln1968Glu NC_000001.11:43434482:C:G p.(Gln1968Glu) NC_000001.11:43434482:C:G p.(Gln1968Glu) NC_000001.11:43434482:C:G Identity +NM_001099679.2:c.768G>T NP_001093149.1:p.Glu256Asp NC_000009.12:116698509:G:T p.(Glu256Asp) NC_000009.12:116698509:G:T p.(Glu256Asp) NC_000009.12:116698509:G:T Identity +NM_016213.5:c.644T>C NP_057297.2:p.Ile215Thr NC_000015.10:64400767:T:C p.(Ile215Thr) NC_000015.10:64400767:T:C p.(Ile215Thr) NC_000015.10:64400767:T:C Identity +NM_001374385.1:c.1214_1215del NP_001361314.1:p.Tyr405fs NC_000018.10:57691811:ATA:A p.(Tyr405CysfsTer24) NC_000018.10:57691811:ATA:A p.(Tyr405CysfsTer24) NC_000018.10:57691811:AT: Analogous +NM_001320665.2:c.150del NP_001307594.1:p.Cys51fs NC_000015.10:72709771:CC:C p.(Cys51AlafsTer25) NC_000015.10:72709771:CC:C p.(Cys51AlafsTer25) NC_000015.10:72709772:C: Analogous +NM_000709.4:c.797_798delinsT NP_000700.1:p.Asn266fs NC_000019.10:41422313:AC:T p.(Asn267MetfsTer63) NC_000019.10:41422313:ACA:AT p.(Asn266IlefsTer64) NC_000019.10:41422313:AC:T Analogous +NM_001354376.2:c.1298C>T NP_001341305.1:p.Ala433Val NC_000015.10:23022031:G:A p.(Ala433Val) NC_000015.10:23022031:G:A p.(Ala433Val) NC_000015.10:23022031:G:A Identity +NM_019077.3:c.192G>A NP_061950.2:p.Trp64Ter NC_000002.12:233682128:G:A p.(Trp64Ter) NC_000002.12:233682128:G:A p.(Trp64Ter) NC_000002.12:233682128:G:A Identity +NM_003742.4:c.2913del NP_003733.2:p.Phe971fs NC_000002.12:168935326:G: p.(Phe971LeufsTer36) NC_000002.12:168935326:G: p.(Phe971LeufsTer36) NC_000002.12:168935326:G: Analogous +NM_000080.4:c.1251_1266dup NP_000071.1:p.Cys423fs NC_000017.11:4899060:GCAGCGGACCTCGGGGGC:GCAGCGGACCTCGGGGGCAGCGGACCTCGGGGGC p.(Cys423ProfsTer38) NC_000017.11:4899060:GCAGCGGACCTCGGGGGC:GCAGCGGACCTCGGGGGCAGCGGACCTCGGGGGC p.(Cys423ProfsTer38) ERR:SPDI Analogous +NM_000028.3:c.2989C>T NP_000019.2:p.Gln997Ter NC_000001.11:99891644:C:T p.(Gln997Ter) NC_000001.11:99891644:C:T p.(Gln997Ter) NC_000001.11:99891644:C:T Identity +NM_001031847.3:c.1347C>G NP_001027017.1:p.Tyr449Ter NC_000011.10:68781775:G:C p.(Tyr449Ter) NC_000011.10:68781775:G:C p.(Tyr449Ter) NC_000011.10:68781775:G:C Identity +NM_000028.3:c.4256dup NP_000019.2:p.Asp1420Argfs NC_000001.11:99915481:CC:CCC p.(Asp1420ArgfsTer2) NC_000001.11:99915481:CC:CCC p.(Asp1420ArgfsTer2) ERR:SPDI Different +NM_001425329.1:c.1794delT NP_001412258.1:p.Gln599Argfs NC_000001.11:99881173:T: p.(Gln599ArgfsTer63) NC_000001.11:99881173:T: p.(Gln599ArgfsTer63) NC_000001.11:99881173:T: Analogous +NM_001042355.2:c.125C>T NP_001035814.1:p.Pro42Leu NC_000016.10:50749822:C:T p.(Pro42Leu) NC_000016.10:50749822:C:T p.(Pro42Leu) NC_000016.10:50749822:C:T Identity +NM_001394687.1:c.632G>A NP_001381616.1:p.Gly211Glu NC_000012.12:55828026:C:T p.(Gly211Glu) NC_000012.12:55828026:C:T p.(Gly211Glu) NC_000012.12:55828026:C:T Identity +NM_001304388.2:c.1076A>G NP_001291317.1:p.Glu359Gly NC_000015.10:23441398:T:C p.(Glu359Gly) NC_000015.10:23441398:T:C p.(Glu359Gly) NC_000015.10:23441398:T:C Identity +NM_014484.5:c.569A>T NP_055299.1:p.Asn190Ile NC_000020.11:50959410:A:T p.(Asn190Ile) NC_000020.11:50959410:A:T p.(Asn190Ile) NC_000020.11:50959410:A:T Identity +NM_001104631.2:c.2237C>T NP_001098101.1:p.Ser746Leu NC_000005.10:58974856:G:A p.(Ser746Leu) NC_000005.10:58974856:G:A p.(Ser746Leu) NC_000005.10:58974856:G:A Identity +NM_001048171.2:c.309G>T NP_001041636.2:p.Trp103Cys NC_000001.11:45333165:C:A p.(Trp103Cys) NC_000001.11:45333165:C:A p.(Trp103Cys) NC_000001.11:45333165:C:A Identity +NM_001407682.1:c.2263A>G NP_001394611.1:p.Thr755Ala NC_000017.11:43093144:T:C p.(Thr755Ala) NC_000017.11:43093144:T:C p.(Thr755Ala) NC_000017.11:43093144:T:C Identity +NM_001354263.2:c.3776C>G NP_001341192.1:p.Ser1259Trp NC_000009.12:137834852:C:G p.(Ser1259Trp) NC_000009.12:137834852:C:G p.(Ser1259Trp) NC_000009.12:137834852:C:G Identity +NM_001079911.3:c.161C>G NP_001073380.1:p.Thr54Ser NC_000004.12:87661986:C:G p.(Thr54Ser) NC_000004.12:87661986:C:G p.(Thr54Ser) NC_000004.12:87661986:C:G Identity +NM_001032394.3:c.1434G>T NP_001027566.2:p.Glu478Asp NC_000006.12:142397705:G:T p.(Glu478Asp) NC_000006.12:142397705:G:T p.(Glu478Asp) NC_000006.12:142397705:G:T Identity +NM_001277269.2:c.602C>G NP_001264198.1:p.Ser201Cys NC_000011.10:17555803:C:G p.(Ser201Cys) NC_000011.10:17555803:C:G p.(Ser201Cys) NC_000011.10:17555803:C:G Identity +NM_016213.5:c.445T>C NP_057297.2:p.Phe149Leu NC_000015.10:64397644:T:C p.(Phe149Leu) NC_000015.10:64397644:T:C p.(Phe149Leu) NC_000015.10:64397644:T:C Identity +NM_001142864.4:c.1536del NP_001136336.2:p.Cys513fs NC_000016.10:88736168:GGGG:GGG p.(Cys513ValfsTer12) NC_000016.10:88736168:GGGG:GGG p.(Cys513ValfsTer12) NC_000016.10:88736168:G: Analogous +NM_001323956.2:c.491G>A NP_001310885.1:p.Gly164Asp NC_000020.11:422209:G:A p.(Gly164Asp) NC_000020.11:422209:G:A p.(Gly164Asp) NC_000020.11:422209:G:A Identity +NM_001039141.3:c.6599G>A NP_001034230.1:p.Arg2200Gln NC_000022.11:37769050:G:A p.(Arg2200Gln) NC_000022.11:37769050:G:A p.(Arg2200Gln) NC_000022.11:37769050:G:A Identity +NM_001256850.1:c.59757del NP_001243779.1:p.Gly19920fs NC_000002.12:178584960:GGGGG:GGGG p.(Gly19920AlafsTer12) NC_000002.12:178584960:GGGGG:GGGG p.(Gly19920AlafsTer12) NC_000002.12:178584960:G: Analogous +NM_000204.5:c.1384C>T NP_000195.3:p.Gln462Ter NC_000004.12:109746266:G:A p.(Gln462Ter) NC_000004.12:109746266:G:A p.(Gln462Ter) NC_000004.12:109746266:G:A Identity +NM_015378.4:c.6728A>C NP_056193.2:p.Lys2243Thr NC_000001.11:12311530:A:C p.(Lys2243Thr) NC_000001.11:12311530:A:C p.(Lys2243Thr) NC_000001.11:12311530:A:C Identity +NM_001190892.1:c.565G>A NP_001177821.1:p.Val189Met NC_000020.11:1980522:C:T p.(Val189Met) NC_000020.11:1980522:C:T p.(Val189Met) NC_000020.11:1980522:C:T Identity +NM_001316329.2:c.70_72delinsCCT NP_001303258.1:p.Ala24Pro NC_000019.10:53882563:GCC:CCT p.(Ala24Pro) NC_000019.10:53882563:GCC:CCT p.(Ala24Pro) NC_000019.10:53882563:GCC:CCT Identity +NM_001193493.2:c.386G>A NP_001180422.1:p.Gly129Glu NC_000002.12:65018594:G:A p.(Gly129Glu) NC_000002.12:65018594:G:A p.(Gly129Glu) NC_000002.12:65018594:G:A Identity +NM_000444.6:c.1318G>T NP_000435.3:p.Glu440Ter NC_000023.11:22133537:G:T p.(Glu440Ter) NC_000023.11:22133537:G:T p.(Glu440Ter) NC_000023.11:22133537:G:T Identity +NM_001171653.2:c.2610del NP_001165124.1:p.Leu870fs NC_000002.12:144398504:T: p.(Leu870PhefsTer36) NC_000002.12:144398504:T: p.(Leu870PhefsTer36) NC_000002.12:144398504:T: Analogous +NM_000443.4:c.1733C>T NP_000434.1:p.Ala578Val NC_000007.14:87431563:G:A p.(Ala578Val) NC_000007.14:87431563:G:A p.(Ala578Val) NC_000007.14:87431563:G:A Identity +NM_000443.4:c.1571C>A NP_000434.1:p.Thr524Asn NC_000007.14:87439826:G:T p.(Thr524Asn) NC_000007.14:87439826:G:T p.(Thr524Asn) NC_000007.14:87439826:G:T Identity +NM_000443.4:c.88_91del NP_000434.1:p.Lys30fs NC_000007.14:87472664:TTTTTT:TT p.(Lys30GlyfsTer7) NC_000007.14:87472664:TTTTTT:TT p.(Lys30GlyfsTer7) NC_000007.14:87472664:TTTT: Analogous +NM_000037.4:c.2924T>C NP_000028.3:p.Ile975Thr NC_000008.11:41696398:A:G p.(Ile975Thr) NC_000008.11:41696398:A:G p.(Ile975Thr) NC_000008.11:41696398:A:G Identity +NM_001346813.1:c.2923A>G NP_001333742.1:p.Ser975Gly NC_000006.12:157167121:A:G ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_001003406.2:c.1306GAG[1] NP_001003406.1:p.Glu437del NC_000022.11:39646724:GAGGAG:GAG p.(Glu437del) NC_000022.11:39646724:G:GAG ERR:Parse ERR:Parse Identity +NM_001197115.2:c.94C>T NP_001184044.1:p.His32Tyr NC_000006.12:53544551:G:A p.(His32Tyr) NC_000006.12:53544551:G:A p.(His32Tyr) NC_000006.12:53544551:G:A Identity +NM_033497.3:c.1396C>T NP_277032.1:p.Arg466Cys NC_000010.11:69382604:C:T p.(Arg466Cys) NC_000010.11:69382604:C:T p.(Arg466Cys) NC_000010.11:69382604:C:T Identity +NM_000203.5:c.1162A>C NP_000194.2:p.Thr388Pro NC_000004.12:1002457:A:C p.(Thr388Pro) NC_000004.12:1002457:A:C p.(Thr388Pro) NC_000004.12:1002457:A:C Identity +NM_001375808.2:c.1228G>C NP_001362737.1:p.Gly410Arg NC_000018.10:2934390:C:G p.(Gly410Arg) NC_000018.10:2934390:C:G p.(Gly410Arg) NC_000018.10:2934390:C:G Identity +NM_014975.3:c.2316G>T NP_055790.1:p.Glu772Asp NC_000019.10:12867649:G:T p.(Glu772Asp) NC_000019.10:12867649:G:T p.(Glu772Asp) NC_000019.10:12867649:G:T Identity +NM_000282.4:c.574A>G NP_000273.2:p.Ile192Val NC_000013.11:100209436:A:G p.(Ile192Val) NC_000013.11:100209436:A:G p.(Ile192Val) NC_000013.11:100209436:A:G Identity +NM_001242648.4:c.1000G>C NP_001229577.1:p.Val334Leu NC_000006.12:13227828:G:C p.(Val334Leu) NC_000006.12:13227828:G:C p.(Val334Leu) NC_000006.12:13227828:G:C Identity +NM_000298.6:c.673T>C NP_000289.1:p.Ser225Pro NC_000001.11:155295136:A:G p.(Ser225Pro) NC_000001.11:155295136:A:G p.(Ser225Pro) NC_000001.11:155295136:A:G Identity +NM_000445.5:c.11828C>T NP_000436.2:p.Thr3943Ile NC_000008.11:143918073:G:A p.(Thr3943Ile) NC_000008.11:143918073:G:A p.(Thr3943Ile) NC_000008.11:143918073:G:A Identity +NM_001163257.2:c.1135C>T NP_001156729.1:p.Arg379Cys NC_000023.11:153767892:C:T p.(Arg379Cys) NC_000023.11:153767892:C:T p.(Arg379Cys) NC_000023.11:153767892:C:T Identity +NM_001282917.2:c.3920C>G NP_001269846.1:p.Pro1307Arg NC_000020.11:38567197:C:G p.(Pro1307Arg) NC_000020.11:38567197:C:G p.(Pro1307Arg) NC_000020.11:38567197:C:G Identity +NM_012309.5:c.892G>T NP_036441.2:p.Gly298Cys NC_000011.10:71092441:C:A p.(Gly298Cys) NC_000011.10:71092441:C:A p.(Gly298Cys) NC_000011.10:71092441:C:A Identity +NM_000342.4:c.1642C>A NP_000333.1:p.Pro548Thr NC_000017.11:44255830:G:T p.(Pro548Thr) NC_000017.11:44255830:G:T p.(Pro548Thr) NC_000017.11:44255830:G:T Identity +NM_003126.4:c.2182A>G NP_003117.2:p.Lys728Glu NC_000001.11:158666353:T:C p.(Lys728Glu) NC_000001.11:158666353:T:C p.(Lys728Glu) NC_000001.11:158666353:T:C Identity +NM_003128.3:c.3728C>T NP_003119.2:p.Ser1243Leu NC_000002.12:54632728:C:T p.(Ser1243Leu) NC_000002.12:54632728:C:T p.(Ser1243Leu) NC_000002.12:54632728:C:T Identity +NM_001256850.1:c.93920A>G NP_001243779.1:p.Asn31307Ser NC_000002.12:178539091:T:C p.(Asn31307Ser) NC_000002.12:178539091:T:C p.(Asn31307Ser) NC_000002.12:178539091:T:C Identity +NM_001256850.1:c.43652T>G NP_001243779.1:p.Val14551Gly NC_000002.12:178615369:A:C p.(Val14551Gly) NC_000002.12:178615369:A:C p.(Val14551Gly) NC_000002.12:178615369:A:C Identity +NM_001256850.1:c.8261C>G NP_001243779.1:p.Ala2754Gly NC_000002.12:178770530:G:C p.(Ala2754Gly) NC_000002.12:178770530:G:C p.(Ala2754Gly) NC_000002.12:178770530:G:C Identity +NM_001256850.1:c.22214A>G NP_001243779.1:p.Gln7405Arg NC_000002.12:178720596:T:C p.(Gln7405Arg) NC_000002.12:178720596:T:C p.(Gln7405Arg) NC_000002.12:178720596:T:C Identity +NM_001083961.2:c.1024G>A NP_001077430.1:p.Ala342Thr NC_000019.10:36071696:G:A p.(Ala342Thr) NC_000019.10:36071696:G:A p.(Ala342Thr) NC_000019.10:36071696:G:A Identity +NM_001172745.3:c.1753del NP_001166216.1:p.His585fs NC_000020.11:18548616:CC:C p.(His585IlefsTer2) NC_000020.11:18548616:CC:C p.(His585IlefsTer2) NC_000020.11:18548617:C: Analogous +NM_000032.5:c.1355G>T NP_000023.2:p.Arg452Leu NC_000023.11:55014828:C:A p.(Arg452Leu) NC_000023.11:55014828:C:A p.(Arg452Leu) NC_000023.11:55014828:C:A Identity +NM_006045.3:c.1164dup NP_006036.1:p.Leu389fs NC_000020.11:51671130:T:TT p.(Leu389ThrfsTer59) NC_000020.11:51671130:T:TT p.(Leu389ThrfsTer59) ERR:SPDI Analogous +NM_001195518.2:c.765dup NP_001182447.1:p.Met256fs NC_000010.11:72475267:A:AA p.(Met256TyrfsTer31) NC_000010.11:72475267:A:AA p.(Met256TyrfsTer31) ERR:SPDI Analogous +NM_001136033.3:c.1529A>G NP_001129505.1:p.Asp510Gly NC_000008.11:143816541:T:C p.(Asp510Gly) NC_000008.11:143816541:T:C p.(Asp510Gly) NC_000008.11:143816541:T:C Identity +NM_001136160.2:c.1363C>T NP_001129632.1:p.Gln455Ter NC_000008.11:66896252:C:T p.(Gln455Ter) NC_000008.11:66896252:C:T p.(Gln455Ter) NC_000008.11:66896252:C:T Identity +NM_000378.6:c.451T>G NP_000369.4:p.Trp151Gly NC_000011.10:32434909:A:C p.(Trp151Gly) NC_000011.10:32434909:A:C p.(Trp151Gly) NC_000011.10:32434909:A:C Identity +NM_000686.5:c.402dup NP_000677.2:p.Ile135fs NC_000023.11:116172674:TTTTTTTT:TTTTTTTTT p.(Ile135TyrfsTer7) NC_000023.11:116172674:TTTTTTTT:TTTTTTTTT p.(Ile135TyrfsTer7) ERR:SPDI Analogous +NM_001172810.3:c.1199T>A NP_001166281.1:p.Ile400Asn NC_000017.11:74305429:T:A p.(Ile400Asn) NC_000017.11:74305429:T:A p.(Ile400Asn) NC_000017.11:74305429:T:A Identity +NM_001363767.1:c.508A>G NP_001350696.1:p.Ser170Gly NC_000009.12:967998:A:G p.(Ser170Gly) NC_000009.12:967998:A:G p.(Ser170Gly) NC_000009.12:967998:A:G Identity +NM_001256850.1:c.83777C>A NP_001243779.1:p.Thr27926Asn NC_000002.12:178554646:G:T p.(Thr27926Asn) NC_000002.12:178554646:G:T p.(Thr27926Asn) NC_000002.12:178554646:G:T Identity +NM_144573.4:c.43T>C NP_653174.3:p.Ser15Pro NC_000001.11:77917580:T:C p.(Ser15Pro) NC_000001.11:77917580:T:C p.(Ser15Pro) NC_000001.11:77917580:T:C Identity +NM_004895.5:c.35G>T NP_004886.3:p.Arg12Met NC_000001.11:247418828:G:T p.(Arg12Met) NC_000001.11:247418828:G:T p.(Arg12Met) NC_000001.11:247418828:G:T Identity +NM_000173.7:c.1432T>G NP_000164.5:p.Phe478Val NC_000017.11:4934035:T:G p.(Phe478Val) NC_000017.11:4934035:T:G p.(Phe478Val) NC_000017.11:4934035:T:G Identity +NM_000457.6:c.743A>T NP_000448.3:p.Asp248Val NC_000020.11:44419726:A:T p.(Asp248Val) NC_000020.11:44419726:A:T p.(Asp248Val) NC_000020.11:44419726:A:T Identity +NM_001845.6:c.3397G>A NP_001836.3:p.Gly1133Arg NC_000013.11:110174454:C:T p.(Gly1133Arg) NC_000013.11:110174454:C:T p.(Gly1133Arg) NC_000013.11:110174454:C:T Identity +NM_000816.3:c.1207G>T NP_000807.2:p.Glu403Ter NC_000005.10:162153170:G:T p.(Glu403Ter) NC_000005.10:162153170:G:T p.(Glu403Ter) NC_000005.10:162153170:G:T Identity +NM_001406655.1:c.2027C>T NP_001393584.1:p.Ala676Val NC_000002.12:47475291:C:T p.(Ala676Val) NC_000002.12:47475291:C:T p.(Ala676Val) NC_000002.12:47475291:C:T Identity +NM_000296.4:c.9530G>A NP_000287.4:p.Gly3177Asp NC_000016.10:2100433:C:T p.(Gly3177Asp) NC_000016.10:2100433:C:T p.(Gly3177Asp) NC_000016.10:2100433:C:T Identity +NM_001100.4:c.875G>A NP_001091.1:p.Arg292Lys NC_000001.11:229431835:C:T p.(Arg292Lys) NC_000001.11:229431835:C:T p.(Arg292Lys) NC_000001.11:229431835:C:T Identity +NM_001127617.2:c.1009C>G NP_001121089.1:p.Leu337Val NC_000016.10:30070125:C:G p.(Leu337Val) NC_000016.10:30070125:C:G p.(Leu337Val) NC_000016.10:30070125:C:G Identity +NM_000059.4:c.8639C>A NP_000050.3:p.Thr2880Lys NC_000013.11:32376675:C:A p.(Thr2880Lys) NC_000013.11:32376675:C:A p.(Thr2880Lys) NC_000013.11:32376675:C:A Identity +NM_001301088.2:c.1135T>C NP_001288017.1:p.Trp379Arg NC_000011.10:124891779:A:G p.(Trp379Arg) NC_000011.10:124891779:A:G p.(Trp379Arg) NC_000011.10:124891779:A:G Identity +NM_001040108.2:c.2715T>G NP_001035197.1:p.Ser905Arg NC_000014.9:75046940:A:C p.(Ser905Arg) NC_000014.9:75046940:A:C p.(Ser905Arg) NC_000014.9:75046940:A:C Identity +NM_001256849.1:c.984G>T NP_001243778.1:p.Glu328Asp NC_000019.10:50403065:G:T p.(Glu328Asp) NC_000019.10:50403065:G:T p.(Glu328Asp) NC_000019.10:50403065:G:T Identity +NM_000059.4:c.6051A>C NP_000050.3:p.Lys2017Asn NC_000013.11:32340405:A:C p.(Lys2017Asn) NC_000013.11:32340405:A:C p.(Lys2017Asn) NC_000013.11:32340405:A:C Identity +NM_001142864.4:c.6392T>C NP_001136336.2:p.Leu2131Pro NC_000016.10:88719652:A:G p.(Leu2131Pro) NC_000016.10:88719652:A:G p.(Leu2131Pro) NC_000016.10:88719652:A:G Identity +NM_005215.4:c.2551C>T NP_005206.2:p.Gln851Ter NC_000018.10:53391749:C:T p.(Gln851Ter) NC_000018.10:53391749:C:T p.(Gln851Ter) NC_000018.10:53391749:C:T Identity +NM_000829.4:c.1661C>T NP_000820.4:p.Ala554Val NC_000011.10:105924582:C:T p.(Ala554Val) NC_000011.10:105924582:C:T p.(Ala554Val) NC_000011.10:105924582:C:T Identity +NM_001170629.2:c.949C>T NP_001164100.1:p.Gln317Ter NC_000014.9:21429229:G:A p.(Gln317Ter) NC_000014.9:21429229:G:A p.(Gln317Ter) NC_000014.9:21429229:G:A Identity +NM_001256850.1:c.62384T>C NP_001243779.1:p.Ile20795Thr NC_000002.12:178579979:A:G p.(Ile20795Thr) NC_000002.12:178579979:A:G p.(Ile20795Thr) NC_000002.12:178579979:A:G Identity +NM_000051.4:c.4627A>G NP_000042.3:p.Lys1543Glu NC_000011.10:108293327:A:G p.(Lys1543Glu) NC_000011.10:108293327:A:G p.(Lys1543Glu) NC_000011.10:108293327:A:G Identity +NM_001301088.2:c.1168T>C NP_001288017.1:p.Ser390Pro NC_000011.10:124891746:A:G p.(Ser390Pro) NC_000011.10:124891746:A:G p.(Ser390Pro) NC_000011.10:124891746:A:G Identity +NM_000296.4:c.2688_2698del NP_000287.4:p.Leu899fs NC_000016.10:2114324:GCAGTGCTACC: p.(Leu899GlnfsTer2) NC_000016.10:2114324:GCAGTGCTACC: p.(Leu899GlnfsTer2) NC_000016.10:2114324:GCAGTGCTACC: Analogous +NM_001407297.1:c.61T>G NP_001394226.1:p.Leu21Val NC_000016.10:23638116:A:C p.(Leu21Val) NC_000016.10:23638116:A:C p.(Leu21Val) NC_000016.10:23638116:A:C Identity +NM_001303496.3:c.1327G>C NP_001290425.1:p.Val443Leu NC_000007.14:93134644:C:G p.(Val443Leu) NC_000007.14:93134644:C:G p.(Val443Leu) NC_000007.14:93134644:C:G Identity +NM_000057.4:c.734A>T NP_000048.1:p.Glu245Val NC_000015.10:90750001:A:T p.(Glu245Val) NC_000015.10:90750001:A:T p.(Glu245Val) NC_000015.10:90750001:A:T Identity +NM_002439.5:c.2633T>A NP_002430.3:p.Val878Asp NC_000005.10:80792821:T:A p.(Val878Asp) NC_000005.10:80792821:T:A p.(Val878Asp) NC_000005.10:80792821:T:A Identity +NM_001277115.2:c.784T>C NP_001264044.1:p.Ser262Pro NC_000007.14:21559693:T:C p.(Ser262Pro) NC_000007.14:21559693:T:C p.(Ser262Pro) NC_000007.14:21559693:T:C Identity +NM_000142.5:c.2245G>C NP_000133.1:p.Asp749His NC_000004.12:1806904:G:C p.(Asp749His) NC_000004.12:1806904:G:C p.(Asp749His) NC_000004.12:1806904:G:C Identity +NM_006739.4:c.407G>C NP_006730.2:p.Ser136Thr NC_000022.11:35403525:G:C p.(Ser136Thr) NC_000022.11:35403525:G:C p.(Ser136Thr) NC_000022.11:35403525:G:C Identity +NM_001386500.1:c.7497G>C NP_001373429.1:p.Gln2499His NC_000001.11:11109320:C:G p.(Gln2499His) NC_000001.11:11109320:C:G p.(Gln2499His) NC_000001.11:11109320:C:G Identity +NM_001164507.2:c.23455C>T NP_001157979.2:p.Gln7819Ter NC_000002.12:151507009:G:A p.(Gln7819Ter) NC_000002.12:151507009:G:A p.(Gln7819Ter) NC_000002.12:151507009:G:A Identity +NM_001282403.2:c.127C>T NP_001269332.1:p.Leu43Phe NC_000007.14:76054889:C:T p.(Leu43Phe) NC_000007.14:76054889:C:T p.(Leu43Phe) NC_000007.14:76054889:C:T Identity +NM_015030.2:c.4882T>C NP_055845.1:p.Phe1628Leu NC_000004.12:48548695:A:G p.(Phe1628Leu) NC_000004.12:48548695:A:G p.(Phe1628Leu) NC_000004.12:48548695:A:G Identity +NM_002471.4:c.1223G>A NP_002462.2:p.Gly408Asp NC_000014.9:23400895:C:T p.(Gly408Asp) NC_000014.9:23400895:C:T p.(Gly408Asp) NC_000014.9:23400895:C:T Identity +NM_058216.3:c.1045A>C NP_478123.1:p.Thr349Pro NC_000017.11:58734135:A:C p.(Thr349Pro) NC_000017.11:58734135:A:C p.(Thr349Pro) NC_000017.11:58734135:A:C Identity +NM_001143850.3:c.1803dup NP_001137322.1:p.Thr602fs NC_000012.12:123706760:TT:TTT p.(Thr602TyrfsTer3) NC_000012.12:123706760:TT:TTT p.(Thr602TyrfsTer3) ERR:SPDI Analogous +NM_000162.5:c.323A>T NP_000153.1:p.Tyr108Phe NC_000007.14:44152310:T:A p.(Tyr108Phe) NC_000007.14:44152310:T:A p.(Tyr108Phe) NC_000007.14:44152310:T:A Identity +NM_000264.5:c.290_291insT NP_000255.2:p.Cys98fs NC_000009.12:95506510::A p.(Cys98LeufsTer42) NC_000009.12:95506509:G:A p.(Cys98LeufsTer42) NC_000009.12:95506510:GT:A Analogous +NM_000059.4:c.4680C>A NP_000050.3:p.Ser1560Arg NC_000013.11:32339034:C:A p.(Ser1560Arg) NC_000013.11:32339034:C:A p.(Ser1560Arg) NC_000013.11:32339034:C:A Identity +NM_031924.8:c.221C>G NP_114130.4:p.Ser74Cys NC_000006.12:158986404:G:C p.(Ser74Cys) NC_000006.12:158986404:G:C p.(Ser74Cys) NC_000006.12:158986404:G:C Identity +NM_000076.2:c.605dup NP_000067.1:p.Ala203fs NC_000011.10:2884884:GGGG:GGGGG p.(Ala203GlyfsTer38) NC_000011.10:2884884:GGGG:GGGGG p.(Ala203GlyfsTer38) ERR:SPDI Analogous +NM_017617.5:c.3778G>T NP_060087.3:p.Val1260Leu NC_000009.12:136506838:C:A p.(Val1260Leu) NC_000009.12:136506838:C:A p.(Val1260Leu) NC_000009.12:136506838:C:A Identity +NM_000050.4:c.222G>A NP_000041.2:p.Trp74Ter NC_000009.12:130458447:G:A p.(Trp74Ter) NC_000009.12:130458447:G:A p.(Trp74Ter) NC_000009.12:130458447:G:A Identity +NM_001407571.1:c.2690C>A NP_001394500.1:p.Pro897Gln NC_000017.11:43092627:G:T p.(Pro897Gln) NC_000017.11:43092627:G:T p.(Pro897Gln) NC_000017.11:43092627:G:T Identity +NM_001243372.2:c.2138C>T NP_001230301.1:p.Ser713Phe NC_000004.12:169713147:C:T p.(Ser713Phe) NC_000004.12:169713147:C:T p.(Ser713Phe) NC_000004.12:169713147:C:T Identity +NM_001351444.2:c.3071C>G NP_001338373.1:p.Ser1024Ter NC_000006.12:87257119:C:G p.(Ser1024Ter) NC_000006.12:87257119:C:G p.(Ser1024Ter) NC_000006.12:87257119:C:G Identity +NM_005876.5:c.7795G>T NP_005867.3:p.Glu2599Ter NC_000002.12:219488246:G:T p.(Glu2599Ter) NC_000002.12:219488246:G:T p.(Glu2599Ter) NC_000002.12:219488246:G:T Identity +NM_001177984.3:c.5149G>A NP_001171455.1:p.Val1717Met NC_000012.12:51806757:G:A p.(Val1717Met) NC_000012.12:51806757:G:A p.(Val1717Met) NC_000012.12:51806757:G:A Identity +NM_001407240.1:c.187A>G NP_001394169.1:p.Thr63Ala NC_000001.11:55040023:A:G p.(Thr63Ala) NC_000001.11:55040023:A:G p.(Thr63Ala) NC_000001.11:55040023:A:G Identity +NM_001114331.3:c.328G>A NP_001107803.1:p.Gly110Arg NC_000016.10:1460899:C:T p.(Gly110Arg) NC_000016.10:1460899:C:T p.(Gly110Arg) NC_000016.10:1460899:C:T Identity +NM_001306129.2:c.1816C>G NP_001293058.2:p.Pro606Ala NC_000002.12:215419244:G:C p.(Pro606Ala) NC_000002.12:215419244:G:C p.(Pro606Ala) NC_000002.12:215419244:G:C Identity +NM_000721.4:c.6106G>A NP_000712.2:p.Gly2036Arg NC_000001.11:181796693:G:A p.(Gly2036Arg) NC_000001.11:181796693:G:A p.(Gly2036Arg) NC_000001.11:181796693:G:A Identity +NM_005560.6:c.5147T>G NP_005551.3:p.Leu1716Arg NC_000020.11:62326931:A:C p.(Leu1716Arg) NC_000020.11:62326931:A:C p.(Leu1716Arg) NC_000020.11:62326931:A:C Identity +NM_001099952.4:c.7553A>G NP_001093422.2:p.Lys2518Arg NC_000003.12:4814557:A:G p.(Lys2518Arg) NC_000003.12:4814557:A:G p.(Lys2518Arg) NC_000003.12:4814557:A:G Identity +NM_001291902.2:c.1933C>T NP_001278831.1:p.His645Tyr NC_000011.10:68429612:C:T p.(His645Tyr) NC_000011.10:68429612:C:T p.(His645Tyr) NC_000011.10:68429612:C:T Identity +NM_000080.4:c.1061T>C NP_000071.1:p.Leu354Pro NC_000017.11:4899355:A:G p.(Leu354Pro) NC_000017.11:4899355:A:G p.(Leu354Pro) NC_000017.11:4899355:A:G Identity +NM_001561.6:c.668T>C NP_001552.2:p.Ile223Thr NC_000001.11:7933172:A:G p.(Ile223Thr) NC_000001.11:7933172:A:G p.(Ile223Thr) NC_000001.11:7933172:A:G Identity +NM_000032.5:c.1441G>A NP_000023.2:p.Gly481Ser NC_000023.11:55013644:C:T p.(Gly481Ser) NC_000023.11:55013644:C:T p.(Gly481Ser) NC_000023.11:55013644:C:T Identity +NM_000264.5:c.3151del NP_000255.2:p.Trp1051fs NC_000009.12:95458029:A: p.(Trp1051GlyfsTer7) NC_000009.12:95458029:A: p.(Trp1051GlyfsTer7) NC_000009.12:95458029:A: Analogous +NM_001134771.2:c.526A>T NP_001128243.1:p.Ile176Phe NC_000020.11:46036770:A:T p.(Ile176Phe) NC_000020.11:46036770:A:T p.(Ile176Phe) NC_000020.11:46036770:A:T Identity +NM_001195573.1:c.4267G>C NP_001182502.1:p.Glu1423Gln NC_000014.9:95096652:C:G p.(Glu1423Gln) NC_000014.9:95096652:C:G p.(Glu1423Gln) NC_000014.9:95096652:C:G Identity +NM_001171653.2:c.3154C>T NP_001165124.1:p.His1052Tyr NC_000002.12:144389869:G:A p.(His1052Tyr) NC_000002.12:144389869:G:A p.(His1052Tyr) NC_000002.12:144389869:G:A Identity +NM_031935.3:c.13027G>T NP_114141.2:p.Val4343Phe NC_000001.11:186130087:G:T p.(Val4343Phe) NC_000001.11:186130087:G:T p.(Val4343Phe) NC_000001.11:186130087:G:T Identity +NM_001097642.3:c.310A>T NP_001091111.1:p.Lys104Ter NC_000023.11:71224016:A:T p.(Lys104Ter) NC_000023.11:71224016:A:T p.(Lys104Ter) NC_000023.11:71224016:A:T Identity +NM_001197104.2:c.3559C>G NP_001184033.1:p.Gln1187Glu NC_000011.10:118478190:C:G p.(Gln1187Glu) NC_000011.10:118478190:C:G p.(Gln1187Glu) NC_000011.10:118478190:C:G Identity +NM_000318.3:c.369del NP_000309.2:p.Leu123fs NC_000008.11:76983809:C: p.(Leu123PhefsTer7) NC_000008.11:76983809:C: p.(Leu123PhefsTer7) NC_000008.11:76983809:C: Analogous +NM_001286577.2:c.3049dup NP_001273506.1:p.Ala1017fs NC_000011.10:74095338:C:CC p.(Ala1017GlyfsTer33) NC_000011.10:74095338:C:CC p.(Ala1017GlyfsTer33) ERR:SPDI Analogous +NM_001200001.2:c.1027G>C NP_001186930.1:p.Ala343Pro NC_000001.11:119969591:C:G p.(Ala343Pro) NC_000001.11:119969591:C:G p.(Ala343Pro) NC_000001.11:119969591:C:G Identity +NM_001098511.3:c.1678A>G NP_001091981.1:p.Ile560Val NC_000005.10:62372468:A:G p.(Ile560Val) NC_000005.10:62372468:A:G p.(Ile560Val) NC_000005.10:62372468:A:G Identity +NM_001167614.2:c.427G>A NP_001161086.1:p.Glu143Lys NC_000012.12:65170022:G:A p.(Glu143Lys) NC_000012.12:65170022:G:A p.(Glu143Lys) NC_000012.12:65170022:G:A Identity +NM_001287489.2:c.1433G>A NP_001274418.1:p.Trp478Ter NC_000002.12:26482551:C:T p.(Trp478Ter) NC_000002.12:26482551:C:T p.(Trp478Ter) NC_000002.12:26482551:C:T Identity +NM_001407849.1:c.4339T>A NP_001394778.1:p.Ser1447Thr NC_000017.11:43074519:A:T p.(Ser1447Thr) NC_000017.11:43074519:A:T p.(Ser1447Thr) NC_000017.11:43074519:A:T Identity +NM_000057.4:c.2548C>T NP_000048.1:p.Pro850Ser NC_000015.10:90769578:C:T p.(Pro850Ser) NC_000015.10:90769578:C:T p.(Pro850Ser) NC_000015.10:90769578:C:T Identity +NM_001288653.2:c.1588C>T NP_001275582.1:p.Pro530Ser NC_000017.11:59664840:C:T p.(Pro530Ser) NC_000017.11:59664840:C:T p.(Pro530Ser) NC_000017.11:59664840:C:T Identity +NM_001171930.2:c.1424_1425dup NP_001165401.1:p.Gly476fs NC_000010.11:71646590:GTG:GTGTG p.(Gly476TrpfsTer6) NC_000010.11:71646590:GTG:GTGTG p.(Gly476TrpfsTer6) ERR:SPDI Analogous +NM_003849.4:c.359T>G NP_003840.2:p.Val120Gly NC_000002.12:84441418:A:C p.(Val120Gly) NC_000002.12:84441418:A:C p.(Val120Gly) NC_000002.12:84441418:A:C Identity +NM_001013838.3:c.2174C>T NP_001013860.1:p.Pro725Leu NC_000016.10:67650139:C:T p.(Pro725Leu) NC_000016.10:67650139:C:T p.(Pro725Leu) NC_000016.10:67650139:C:T Identity +NM_000548.5:c.4804G>T NP_000539.2:p.Glu1602Ter NC_000016.10:2086333:G:T p.(Glu1602Ter) NC_000016.10:2086333:G:T p.(Glu1602Ter) NC_000016.10:2086333:G:T Identity +NM_000812.4:c.1013A>C NP_000803.2:p.Lys338Thr NC_000004.12:47406858:A:C p.(Lys338Thr) NC_000004.12:47406858:A:C p.(Lys338Thr) NC_000004.12:47406858:A:C Identity +NM_001211.6:c.545_546delinsCA NP_001202.5:p.Lys182Thr NC_000015.10:40176636:AG:CA p.(Lys182Thr) NC_000015.10:40176636:AG:CA p.(Lys182Thr) NC_000015.10:40176636:AG:CA Identity +NM_001999.4:c.6575G>C NP_001990.2:p.Gly2192Ala NC_000005.10:128289188:C:G p.(Gly2192Ala) NC_000005.10:128289188:C:G p.(Gly2192Ala) NC_000005.10:128289188:C:G Identity +NM_001010938.2:c.488T>C NP_001010938.2:p.Val163Ala NC_000003.12:195884851:A:G p.(Val163Ala) NC_000003.12:195884851:A:G p.(Val163Ala) NC_000003.12:195884851:A:G Identity +NM_001173431.2:c.4534G>A NP_001166902.1:p.Val1512Ile NC_000002.12:219556094:C:T p.(Val1512Ile) NC_000002.12:219556094:C:T p.(Val1512Ile) NC_000002.12:219556094:C:T Identity +NM_000546.6:c.63C>G NP_000537.3:p.Asp21Glu NC_000017.11:7676531:G:C p.(Asp21Glu) NC_000017.11:7676531:G:C p.(Asp21Glu) NC_000017.11:7676531:G:C Identity +NM_001128128.3:c.811dup NP_001121600.1:p.Ile271fs NC_000010.11:31520193:A:AA p.(Ile271AsnfsTer4) NC_000010.11:31520193:A:AA p.(Ile271AsnfsTer4) ERR:SPDI Analogous +NM_001291628.2:c.2664C>G NP_001278557.1:p.Ser888Arg NC_000014.9:95107747:G:C p.(Ser888Arg) NC_000014.9:95107747:G:C p.(Ser888Arg) NC_000014.9:95107747:G:C Identity +NM_014141.6:c.2005A>T NP_054860.1:p.Met669Leu NC_000007.14:147639212:A:T p.(Met669Leu) NC_000007.14:147639212:A:T p.(Met669Leu) NC_000007.14:147639212:A:T Identity +NM_001128175.2:c.271C>G NP_001121647.1:p.Gln91Glu NC_000018.10:34794158:C:G p.(Gln91Glu) NC_000018.10:34794158:C:G p.(Gln91Glu) NC_000018.10:34794158:C:G Identity +NM_004637.6:c.464G>A NP_004628.4:p.Ser155Asn NC_000003.12:128807606:G:A p.(Ser155Asn) NC_000003.12:128807606:G:A p.(Ser155Asn) NC_000003.12:128807606:G:A Identity +NM_014423.4:c.2482C>T NP_055238.1:p.His828Tyr NC_000005.10:132892318:G:A p.(His828Tyr) NC_000005.10:132892318:G:A p.(His828Tyr) NC_000005.10:132892318:G:A Identity +NM_017617.5:c.2026A>T NP_060087.3:p.Asn676Tyr NC_000009.12:136514690:T:A p.(Asn676Tyr) NC_000009.12:136514690:T:A p.(Asn676Tyr) NC_000009.12:136514690:T:A Identity +NM_000095.3:c.842G>A NP_000086.2:p.Arg281His NC_000019.10:18788434:C:T p.(Arg281His) NC_000019.10:18788434:C:T p.(Arg281His) NC_000019.10:18788434:C:T Identity +NM_001035.3:c.9680G>C NP_001026.2:p.Arg3227Pro NC_000001.11:237707047:G:C p.(Arg3227Pro) NC_000001.11:237707047:G:C p.(Arg3227Pro) NC_000001.11:237707047:G:C Identity +NM_000093.5:c.4081C>A NP_000084.3:p.Pro1361Thr NC_000009.12:134815946:C:A p.(Pro1361Thr) NC_000009.12:134815946:C:A p.(Pro1361Thr) NC_000009.12:134815946:C:A Identity +LRG_511t1:c.1096_1097del LRG_511p1:p.Glu366Serfs NC_000022.11:29671920:AGA:A ERR:Data provider error: ValueError: Transcript LRG_511t1 not found ERR:Data provider error: ValueError: Transcript LRG_511t1 not found ERR:AlignmentMapper(tx_ac=LRG_511t1, alt_ac=LRG_511t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_511t1, alt_ac=LRG_511t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_511t1 not found +NM_001256105.1:c.215A>G NP_001243034.1:p.Gln72Arg NC_000003.12:55479444:T:C p.(Gln72Arg) NC_000003.12:55479444:T:C p.(Gln72Arg) NC_000003.12:55479444:T:C Identity +NM_000256.3:c.1291G>C NP_000247.2:p.Asp431His NC_000011.10:47343080:C:G p.(Asp431His) NC_000011.10:47343080:C:G p.(Asp431His) NC_000011.10:47343080:C:G Identity +NM_000018.4:c.1155del NP_000009.1:p.Met386fs NC_000017.11:7223208:GG:G p.(Met386TrpfsTer7) NC_000017.11:7223208:GG:G p.(Met386TrpfsTer7) NC_000017.11:7223209:G: Analogous +NM_001142800.2:c.7746_7762del NP_001136272.1:p.Arg2583fs NC_000006.12:63778141:CATCCTTCTCAGTGCGA: p.(Arg2583ProfsTer9) NC_000006.12:63778141:CATCCTTCTCAGTGCGA: p.(Arg2583ProfsTer9) NC_000006.12:63778141:CATCCTTCTCAGTGCGA: Analogous +NM_000179.3:c.1541G>A NP_000170.1:p.Cys514Tyr NC_000002.12:47799523:G:A p.(Cys514Tyr) NC_000002.12:47799523:G:A p.(Cys514Tyr) NC_000002.12:47799523:G:A Identity +NM_001845.6:c.2992A>G NP_001836.3:p.Ser998Gly NC_000013.11:110176489:T:C p.(Ser998Gly) NC_000013.11:110176489:T:C p.(Ser998Gly) NC_000013.11:110176489:T:C Identity +NM_001330504.2:c.312C>G NP_001317433.1:p.Tyr104Ter NC_000016.10:5077921:C:G p.(Tyr104Ter) NC_000016.10:5077921:C:G p.(Tyr104Ter) NC_000016.10:5077921:C:G Identity +NM_001354609.2:c.1117A>G NP_001341538.1:p.Thr373Ala NC_000007.14:140794330:T:C p.(Thr373Ala) NC_000007.14:140794330:T:C p.(Thr373Ala) NC_000007.14:140794330:T:C Identity +NM_001267609.1:c.47G>A NP_001254538.1:p.Arg16Gln NC_000001.11:168104863:C:T p.(Arg16Gln) NC_000001.11:168104863:C:T p.(Arg16Gln) NC_000001.11:168104863:C:T Identity +NM_016941.4:c.201del NP_058637.1:p.Leu68fs NC_000019.10:39499320:GGG:GG p.(Leu68SerfsTer16) NC_000019.10:39499320:GGG:GG p.(Leu68SerfsTer16) NC_000019.10:39499322:G: Analogous +NM_001007468.3:c.1065G>T NP_001007469.1:p.Lys355Asn NC_000022.11:23833676:G:T p.(Lys355Asn) NC_000022.11:23833676:G:T p.(Lys355Asn) NC_000022.11:23833676:G:T Identity +NM_001080449.3:c.2965A>C NP_001073918.2:p.Thr989Pro NC_000010.11:68419035:T:G p.(Thr989Pro) NC_000010.11:68419035:T:G p.(Thr989Pro) NC_000010.11:68419035:T:G Identity +NM_004946.3:c.224G>A NP_004937.1:p.Arg75Lys NC_000005.10:169670596:G:A p.(Arg75Lys) NC_000005.10:169670596:G:A p.(Arg75Lys) NC_000005.10:169670596:G:A Identity +NM_001172574.2:c.382C>T NP_001166045.2:p.Gln128Ter NC_000008.11:6436107:C:T p.(Gln128Ter) NC_000008.11:6436107:C:T p.(Gln128Ter) NC_000008.11:6436107:C:T Identity +NM_001406763.1:c.186G>C NP_001393692.1:p.Glu62Asp NC_000010.11:43100570:G:C p.(Glu62Asp) NC_000010.11:43100570:G:C p.(Glu62Asp) NC_000010.11:43100570:G:C Identity +NM_014332.3:c.66G>A NP_055147.1:p.Met22Ile NC_000023.11:21743815:C:T p.(Met22Ile) NC_000023.11:21743815:C:T p.(Met22Ile) NC_000023.11:21743815:C:T Identity +NM_001127396.3:c.1375C>G NP_001120868.1:p.Pro459Ala NC_000019.10:7646275:C:G p.(Pro459Ala) NC_000019.10:7646275:C:G p.(Pro459Ala) NC_000019.10:7646275:C:G Identity +NM_001303496.3:c.3670T>A NP_001290425.1:p.Ser1224Thr NC_000007.14:93132301:A:T p.(Ser1224Thr) NC_000007.14:93132301:A:T p.(Ser1224Thr) NC_000007.14:93132301:A:T Identity +LRG_1t1:c.3831del LRG_1p1:p.Asn1279Thrfs NC_000017.11:50186487:GGGG:GGG ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:Data provider error: ValueError: Transcript LRG_1t1 not found ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1t1, alt_ac=LRG_1t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1t1 not found +NM_001277115.2:c.2308T>C NP_001264044.1:p.Tyr770His NC_000007.14:21591217:T:C p.(Tyr770His) NC_000007.14:21591217:T:C p.(Tyr770His) NC_000007.14:21591217:T:C Identity +NM_003489.4:c.3235G>T NP_003480.2:p.Val1079Phe NC_000021.9:14964957:C:A p.(Val1079Phe) NC_000021.9:14964957:C:A p.(Val1079Phe) NC_000021.9:14964957:C:A Identity +NM_000433.4:c.2T>C NP_000424.2:p.Met1Thr NC_000001.11:183590327:A:G p.(Met1Thr) NC_000001.11:183590327:A:G p.Met1? NC_000001.11:183590327:A:G Identity +NM_001195622.2:c.766_767dup NP_001182551.1:p.Ile257fs NC_000009.12:32543562:ATAT:ATATAT p.(Ile257LeufsTer3) NC_000009.12:32543562:ATAT:ATATAT p.(Ile257LeufsTer3) ERR:SPDI Analogous +NM_006231.4:c.4428C>G NP_006222.2:p.Phe1476Leu NC_000012.12:132643422:G:C p.(Phe1476Leu) NC_000012.12:132643422:G:C p.(Phe1476Leu) NC_000012.12:132643422:G:C Identity +NM_001382394.1:c.1913T>G NP_001369323.1:p.Ile638Arg NC_000002.12:39014770:A:C p.(Ile638Arg) NC_000002.12:39014770:A:C p.(Ile638Arg) NC_000002.12:39014770:A:C Identity +NM_001127208.3:c.1897A>G NP_001120680.1:p.Met633Val NC_000004.12:105235838:A:G p.(Met633Val) NC_000004.12:105235838:A:G p.(Met633Val) NC_000004.12:105235838:A:G Identity +NM_001317939.2:c.1822G>A NP_001304868.1:p.Ala608Thr NC_000009.12:16436245:C:T p.(Ala608Thr) NC_000009.12:16436245:C:T p.(Ala608Thr) NC_000009.12:16436245:C:T Identity +NM_017617.5:c.3271G>T NP_060087.3:p.Gly1091Cys NC_000009.12:136508285:C:A p.(Gly1091Cys) NC_000009.12:136508285:C:A p.(Gly1091Cys) NC_000009.12:136508285:C:A Identity +NM_001199579.2:c.92A>G NP_001186508.1:p.Gln31Arg NC_000022.11:38752536:T:C p.(Gln31Arg) NC_000022.11:38752536:T:C p.(Gln31Arg) NC_000022.11:38752536:T:C Identity +NM_001077397.1:c.1310G>T NP_001070865.1:p.Arg437Met NC_000001.11:234607542:C:A p.(Arg437Met) NC_000001.11:234607542:C:A p.(Arg437Met) NC_000001.11:234607542:C:A Identity +NM_001350234.2:c.1383T>G NP_001337163.1:p.Ser461Arg NC_000001.11:9720154:T:G p.(Ser461Arg) NC_000001.11:9720154:T:G p.(Ser461Arg) NC_000001.11:9720154:T:G Identity +NM_001165963.4:c.449dup NP_001159435.1:p.Pro151fs NC_000002.12:166056434:GGG:GGGG p.(Pro151SerfsTer2) NC_000002.12:166056434:GGG:GGGG p.(Pro151SerfsTer2) ERR:SPDI Analogous +NM_000429.3:c.353C>G NP_000420.1:p.Ala118Gly NC_000010.11:80280731:G:C p.(Ala118Gly) NC_000010.11:80280731:G:C p.(Ala118Gly) NC_000010.11:80280731:G:C Identity +NM_001194998.2:c.523C>T NP_001181927.1:p.Gln175Ter NC_000015.10:48797317:G:A p.(Gln175Ter) NC_000015.10:48797317:G:A p.(Gln175Ter) NC_000015.10:48797317:G:A Identity +NM_138694.4:c.5742del NP_619639.3:p.Asn1915fs NC_000006.12:52010317:C: p.(Asn1915ThrfsTer59) NC_000006.12:52010317:C: p.(Asn1915ThrfsTer59) NC_000006.12:52010317:C: Analogous +NM_001164507.2:c.13777del NP_001157979.2:p.Leu4593fs NC_000002.12:151600452:GG:G p.(Leu4593TyrfsTer27) NC_000002.12:151600452:GG:G p.(Leu4593TyrfsTer27) NC_000002.12:151600452:G: Analogous +NM_000093.5:c.2285C>A NP_000084.3:p.Pro762Gln NC_000009.12:134768461:C:A p.(Pro762Gln) NC_000009.12:134768461:C:A p.(Pro762Gln) NC_000009.12:134768461:C:A Identity +NM_030665.4:c.598C>G NP_109590.3:p.Pro200Ala NC_000017.11:17793545:C:G p.(Pro200Ala) NC_000017.11:17793545:C:G p.(Pro200Ala) NC_000017.11:17793545:C:G Identity +NM_001195573.1:c.5228C>T NP_001182502.1:p.Thr1743Ile NC_000014.9:95094023:G:A p.(Thr1743Ile) NC_000014.9:95094023:G:A p.(Thr1743Ile) NC_000014.9:95094023:G:A Identity +NM_000548.5:c.1912_1924del NP_000539.2:p.Val638fs NC_000016.10:2071580:CGTGCGGTTCAGCC:C p.(Val638ProfsTer56) NC_000016.10:2071580:CGTGCGGTTCAGCC:C p.(Val638ProfsTer56) NC_000016.10:2071581:GTGCGGTTCAGCC: Analogous +NM_000186.4:c.2459C>T NP_000177.2:p.Ser820Phe NC_000001.11:196736868:C:T p.(Ser820Phe) NC_000001.11:196736868:C:T p.(Ser820Phe) NC_000001.11:196736868:C:T Identity +NM_001136025.5:c.352C>T NP_001129497.1:p.Gln118Ter NC_000023.11:115629311:C:T p.(Gln118Ter) NC_000023.11:115629311:C:T p.(Gln118Ter) NC_000023.11:115629311:C:T Identity +NM_001410908.1:c.2415A>T NP_001397837.1:p.Lys805Asn NC_000007.14:105105656:A:T p.(Lys805Asn) NC_000007.14:105105656:A:T p.(Lys805Asn) NC_000007.14:105105656:A:T Identity +NM_001290307.3:c.1355T>A NP_001277236.1:p.Met452Lys NC_000005.10:138904406:T:A p.(Met452Lys) NC_000005.10:138904406:T:A p.(Met452Lys) NC_000005.10:138904406:T:A Identity +NM_000062.3:c.390C>G NP_000053.2:p.Cys130Trp NC_000011.10:57600216:C:G p.(Cys130Trp) NC_000011.10:57600216:C:G p.(Cys130Trp) NC_000011.10:57600216:C:G Identity +NM_001005242.3:c.199A>C NP_001005242.2:p.Lys67Gln NC_000012.12:32896532:T:G p.(Lys67Gln) NC_000012.12:32896532:T:G p.(Lys67Gln) NC_000012.12:32896532:T:G Identity +NM_000059.4:c.9766G>T NP_000050.3:p.Glu3256Ter NC_000013.11:32398278:G:T p.(Glu3256Ter) NC_000013.11:32398278:G:T p.(Glu3256Ter) NC_000013.11:32398278:G:T Identity +NM_001258392.3:c.282C>T NP_001245321.1:p.Pro94= NC_000011.10:72434192:G:A p.(Pro94=) NC_000011.10:72434192:G:A p.(Pro94=) NC_000011.10:72434192:G:A Identity +NM_001271022.2:c.62C>T NP_001257951.1:p.Ser21Leu NC_000003.12:48451789:C:T p.(Ser21Leu) NC_000003.12:48451789:C:T p.(Ser21Leu) NC_000003.12:48451789:C:T Identity +NM_000232.5:c.-8_8dup NP_000223.1:p.Ala4fs NC_000004.12:52038251:GCCGCCATCTTCCCGCGCC:GCCGCCATCTTCCCGCGCCGCCATCTTCCCGCGCC p.(Ala4ArgfsTer26) NC_000004.12:52038251:GCCGCCATCTTCCCGCGCC:GCCGCCATCTTCCCGCGCCGCCATCTTCCCGCGCC p.(Ala4ArgfsTer26) ERR:SPDI Analogous +NM_000516.7:c.408del NP_000507.1:p.Asn136fs NC_000020.11:58903766:C: p.(Asn136LysfsTer36) NC_000020.11:58903766:C: p.(Asn136LysfsTer36) NC_000020.11:58903766:C: Analogous +NM_005859.5:c.757T>G NP_005850.1:p.Tyr253Asp NC_000005.10:140114937:T:G p.(Tyr253Asp) NC_000005.10:140114937:T:G p.(Tyr253Asp) NC_000005.10:140114937:T:G Identity +NM_001354705.2:c.542C>G NP_001341634.1:p.Ala181Gly NC_000012.12:57569056:C:G p.(Ala181Gly) NC_000012.12:57569056:C:G p.(Ala181Gly) NC_000012.12:57569056:C:G Identity +NM_001160036.2:c.2044T>G NP_001153508.1:p.Tyr682Asp NC_000008.11:23017262:T:G p.(Tyr682Asp) NC_000008.11:23017262:T:G p.(Tyr682Asp) NC_000008.11:23017262:T:G Identity +NM_001166588.3:c.883A>G NP_001160060.1:p.Arg295Gly NC_000001.11:44879909:T:C p.(Arg295Gly) NC_000001.11:44879909:T:C p.(Arg295Gly) NC_000001.11:44879909:T:C Identity +NM_000240.4:c.163A>G NP_000231.1:p.Ile55Val NC_000023.11:43683601:A:G p.(Ile55Val) NC_000023.11:43683601:A:G p.(Ile55Val) NC_000023.11:43683601:A:G Identity +NM_000535.7:c.284T>A NP_000526.2:p.Phe95Tyr NC_000007.14:6003758:A:T p.(Phe95Tyr) NC_000007.14:6003758:A:T p.(Phe95Tyr) NC_000007.14:6003758:A:T Identity +NM_001270523.2:c.677C>T NP_001257452.1:p.Ala226Val NC_000014.9:56801927:G:A p.(Ala226Val) NC_000014.9:56801927:G:A p.(Ala226Val) NC_000014.9:56801927:G:A Identity +NM_001174146.2:c.746G>T NP_001167617.1:p.Arg249Leu NC_000009.12:126693527:G:T p.(Arg249Leu) NC_000009.12:126693527:G:T p.(Arg249Leu) NC_000009.12:126693527:G:T Identity +NM_001130438.3:c.6275G>T NP_001123910.1:p.Arg2092Leu NC_000009.12:128625973:G:T p.(Arg2092Leu) NC_000009.12:128625973:G:T p.(Arg2092Leu) NC_000009.12:128625973:G:T Identity +NM_001006600.3:c.58G>A NP_001006600.1:p.Glu20Lys NC_000005.10:65992775:G:A p.(Glu20Lys) NC_000005.10:65992775:G:A p.(Glu20Lys) NC_000005.10:65992775:G:A Identity +NM_000489.6:c.5579A>C NP_000480.3:p.Asn1860Thr NC_000023.11:77600551:T:G p.(Asn1860Thr) NC_000023.11:77600551:T:G p.(Asn1860Thr) NC_000023.11:77600551:T:G Identity +NM_000256.3:c.2825_2826delinsAA NP_000247.2:p.Phe942Ter NC_000011.10:47335120:GA:TT p.(Phe942Ter) NC_000011.10:47335120:GA:TT p.(Phe942Ter) NC_000011.10:47335120:GA:TT Identity +NM_001710.6:c.1201_1202del NP_001701.2:p.Val401fs NC_000006.12:31949273:TGT:T p.(Val401HisfsTer2) NC_000006.12:31949273:TGT:T p.(Val401HisfsTer2) NC_000006.12:31949274:GT: Analogous +NM_001278192.2:c.2004_2005del NP_001265121.1:p.Gly669fs NC_000011.10:62627088:CA: p.(Gly669SerfsTer17) NC_000011.10:62627088:CA: p.(Gly669SerfsTer17) NC_000011.10:62627088:CA: Analogous +NM_001848.3:c.2623G>A NP_001839.2:p.Val875Met NC_000021.9:46003548:G:A p.(Val875Met) NC_000021.9:46003548:G:A p.(Val875Met) NC_000021.9:46003548:G:A Identity +NM_000051.4:c.5706dup NP_000042.3:p.Lys1903Ter NC_000011.10:108307927:T:TT p.(Lys1903Ter) NC_000011.10:108307927:T:TT p.(Lys1903Ter) ERR:SPDI Identity +NM_000533.5:c.206A>C NP_000524.3:p.Gln69Pro NC_000023.11:103786478:A:C p.(Gln69Pro) NC_000023.11:103786478:A:C p.(Gln69Pro) NC_000023.11:103786478:A:C Identity +NM_001318193.2:c.123G>C NP_001305122.2:p.Arg41Ser NC_000016.10:2046358:C:G p.(Arg41Ser) NC_000016.10:2046358:C:G p.(Arg41Ser) NC_000016.10:2046358:C:G Identity +NM_013339.4:c.107G>A NP_037471.2:p.Gly36Asp NC_000001.11:63396536:G:A p.(Gly36Asp) NC_000001.11:63396536:G:A p.(Gly36Asp) NC_000001.11:63396536:G:A Identity +NM_001164507.2:c.19036_19057del NP_001157979.2:p.Tyr6346fs NC_000002.12:151561251:GCGTGTCTGTGACCAGATTATAG:G p.(Tyr6346ProfsTer4) NC_000002.12:151561251:GCGTGTCTGTGACCAGATTATAG:G p.(Tyr6346ProfsTer4) NC_000002.12:151561251:GCGTGTCTGTGACCAGATTATA: Analogous +NM_001271.4:c.5240A>C NP_001262.3:p.His1747Pro NC_000015.10:93024457:A:C p.(His1747Pro) NC_000015.10:93024457:A:C p.(His1747Pro) NC_000015.10:93024457:A:C Identity +NM_000875.5:c.100G>C NP_000866.1:p.Gly34Arg NC_000015.10:98707566:G:C p.(Gly34Arg) NC_000015.10:98707566:G:C p.(Gly34Arg) NC_000015.10:98707566:G:C Identity +NM_000438.6:c.262_271dup NP_000429.2:p.Gln91fs NC_000002.12:222297027:GGTACCTGCA:GGTACCTGCAGGTACCTGCA p.(Gln91LeufsTer26) NC_000002.12:222297027:GGTACCTGCA:GGTACCTGCAGGTACCTGCA p.(Gln91LeufsTer26) ERR:SPDI Analogous +NM_001079821.3:c.2101A>G NP_001073289.2:p.Met701Val NC_000001.11:247425549:A:G p.(Met701Val) NC_000001.11:247425549:A:G p.(Met701Val) NC_000001.11:247425549:A:G Identity +NM_001122670.2:c.2957T>C NP_001116142.1:p.Ile986Thr NC_000023.11:72602233:A:G p.(Ile986Thr) NC_000023.11:72602233:A:G p.(Ile986Thr) NC_000023.11:72602233:A:G Identity +LRG_492t1:c.5405T>C LRG_492p1:p.Ile1802Thr NC_000014.9:95091324:A:G ERR:Data provider error: ValueError: Transcript LRG_492t1 not found ERR:Data provider error: ValueError: Transcript LRG_492t1 not found ERR:AlignmentMapper(tx_ac=LRG_492t1, alt_ac=LRG_492t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_492t1, alt_ac=LRG_492t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_492t1 not found +NM_001375567.1:c.2908G>A NP_001362496.1:p.Val970Ile NC_000009.12:20923714:G:A p.(Val970Ile) NC_000009.12:20923714:G:A p.(Val970Ile) NC_000009.12:20923714:G:A Identity +NM_020987.5:c.11633C>T NP_066267.2:p.Pro3878Leu NC_000010.11:60069247:G:A p.(Pro3878Leu) NC_000010.11:60069247:G:A p.(Pro3878Leu) NC_000010.11:60069247:G:A Identity +NM_001411087.1:c.838C>T NP_001398016.1:p.Arg280Trp NC_000019.10:45025697:C:T p.(Arg280Trp) NC_000019.10:45025697:C:T p.(Arg280Trp) NC_000019.10:45025697:C:T Identity +NM_032119.4:c.6056A>G NP_115495.3:p.Asp2019Gly NC_000005.10:90683976:A:G p.(Asp2019Gly) NC_000005.10:90683976:A:G p.(Asp2019Gly) NC_000005.10:90683976:A:G Identity +NM_001354689.3:c.460A>G NP_001341618.1:p.Ile154Val NC_000003.12:12608886:T:C p.(Ile154Val) NC_000003.12:12608886:T:C p.(Ile154Val) NC_000003.12:12608886:T:C Identity +NM_001271427.2:c.1763T>C NP_001258356.1:p.Leu588Pro NC_000001.11:19232639:A:G p.(Leu588Pro) NC_000001.11:19232639:A:G p.(Leu588Pro) NC_000001.11:19232639:A:G Identity +NM_001349896.1:c.1818_1825dup NP_001336825.1:p.Arg609fs NC_000022.11:26458465:GGTCGTAA:GGTCGTAAGGTCGTAA p.(Arg609LeufsTer9) NC_000022.11:26458465:GGTCGTAA:GGTCGTAAGGTCGTAA p.(Arg609LeufsTer9) ERR:SPDI Analogous +NM_001165963.4:c.1809C>A NP_001159435.1:p.Ser603Arg NC_000002.12:166043902:G:T p.(Ser603Arg) NC_000002.12:166043902:G:T p.(Ser603Arg) NC_000002.12:166043902:G:T Identity +NM_005886.3:c.161del NP_005877.2:p.Asn54fs NC_000016.10:57741805:AA:A p.(Asn54ThrfsTer4) NC_000016.10:57741805:AA:A p.(Asn54ThrfsTer4) NC_000016.10:57741806:A: Analogous +NM_000335.5:c.4140G>C NP_000326.2:p.Lys1380Asn NC_000003.12:38560248:C:G p.(Lys1380Asn) NC_000003.12:38560248:C:G p.(Lys1380Asn) NC_000003.12:38560248:C:G Identity +NM_000291.4:c.1204C>G NP_000282.1:p.Leu402Val NC_000023.11:78125415:C:G p.(Leu402Val) NC_000023.11:78125415:C:G p.(Leu402Val) NC_000023.11:78125415:C:G Identity +NM_001347827.2:c.1087A>G NP_001334756.1:p.Ile363Val NC_000004.12:54267706:A:G p.(Ile363Val) NC_000004.12:54267706:A:G p.(Ile363Val) NC_000004.12:54267706:A:G Identity +NM_000465.4:c.1781C>G NP_000456.2:p.Ala594Gly NC_000002.12:214745750:G:C p.(Ala594Gly) NC_000002.12:214745750:G:C p.(Ala594Gly) NC_000002.12:214745750:G:C Identity +NM_006231.4:c.5018T>A NP_006222.2:p.Phe1673Tyr NC_000012.12:132642331:A:T p.(Phe1673Tyr) NC_000012.12:132642331:A:T p.(Phe1673Tyr) NC_000012.12:132642331:A:T Identity +NM_001167595.2:c.732G>A NP_001161067.1:p.Leu244= NC_000005.10:33998647:C:T p.(Leu244=) NC_000005.10:33998647:C:T p.(Leu244=) NC_000005.10:33998647:C:T Identity +NM_004525.3:c.9651T>G NP_004516.2:p.Tyr3217Ter NC_000002.12:169185696:A:C p.(Tyr3217Ter) NC_000002.12:169185696:A:C p.(Tyr3217Ter) NC_000002.12:169185696:A:C Identity +NM_138694.4:c.5117del NP_619639.3:p.Val1706fs NC_000006.12:52024692:A: p.(Val1706AlafsTer36) NC_000006.12:52024692:A: p.(Val1706AlafsTer36) NC_000006.12:52024692:A: Analogous +NM_001406668.1:c.1204C>T NP_001393597.1:p.Leu402Phe NC_000016.10:2060807:C:T p.(Leu402Phe) NC_000016.10:2060807:C:T p.(Leu402Phe) NC_000016.10:2060807:C:T Identity +NM_001308176.2:c.1864A>C NP_001295105.1:p.Thr622Pro NC_000018.10:27985545:T:G p.(Thr622Pro) NC_000018.10:27985545:T:G p.(Thr622Pro) NC_000018.10:27985545:T:G Identity +NM_001146702.2:c.425A>G NP_001140174.1:p.Tyr142Cys NC_000023.11:53217173:T:C p.(Tyr142Cys) NC_000023.11:53217173:T:C p.(Tyr142Cys) NC_000023.11:53217173:T:C Identity +NM_003640.5:c.195G>T NP_003631.2:p.Glu65Asp NC_000009.12:108929876:C:A p.(Glu65Asp) NC_000009.12:108929876:C:A p.(Glu65Asp) NC_000009.12:108929876:C:A Identity +NM_000321.3:c.737T>G NP_000312.2:p.Ile246Ser NC_000013.11:48362832:T:G p.(Ile246Ser) NC_000013.11:48362832:T:G p.(Ile246Ser) NC_000013.11:48362832:T:G Identity +NM_015425.6:c.2363A>T NP_056240.2:p.Tyr788Phe NC_000002.12:86052845:T:A p.(Tyr788Phe) NC_000002.12:86052845:T:A p.(Tyr788Phe) NC_000002.12:86052845:T:A Identity +NM_001142800.2:c.5303del NP_001136272.1:p.Asn1768fs NC_000006.12:64590563:TTT:TT p.(Asn1768MetfsTer10) NC_000006.12:64590563:TTT:TT p.(Asn1768MetfsTer10) NC_000006.12:64590563:T: Analogous +NM_001315529.2:c.41_48del NP_001302458.1:p.Met14fs NC_000021.9:46334522:ATGTTCACA:A p.(Met14SerfsTer3) NC_000021.9:46334522:ATGTTCACA:A p.(Met14SerfsTer3) NC_000021.9:46334523:TGTTCACA: Analogous +NM_015295.3:c.2981C>G NP_056110.2:p.Thr994Arg NC_000018.10:2729341:C:G p.(Thr994Arg) NC_000018.10:2729341:C:G p.(Thr994Arg) NC_000018.10:2729341:C:G Identity +NM_000094.4:c.8749A>G NP_000085.1:p.Asn2917Asp NC_000003.12:48564851:T:C p.(Asn2917Asp) NC_000003.12:48564851:T:C p.(Asn2917Asp) NC_000003.12:48564851:T:C Identity +NM_002181.4:c.434del NP_002172.2:p.His145fs NC_000002.12:219057575:T: p.(His145LeufsTer79) NC_000002.12:219057575:T: p.(His145LeufsTer79) NC_000002.12:219057575:T: Analogous +NM_001110792.2:c.44_57del NP_001104262.1:p.Gly15fs NC_000023.11:154097608:CTCCTCCTCGCCTCCTCCTCCTC:CTCCTCCTC p.(Gly15GlufsTer22) NC_000023.11:154097608:CTCCTCCTCGCCTCCTCCTCCTC:CTCCTCCTC p.(Gly15GlufsTer22) NC_000023.11:154097608:CTCCTCCTCGCCTC: Analogous +NM_015160.3:c.203A>G NP_055975.1:p.Lys68Arg NC_000009.12:136412127:A:G p.(Lys68Arg) NC_000009.12:136412127:A:G p.(Lys68Arg) NC_000009.12:136412127:A:G Identity +NM_001177984.3:c.1498C>T NP_001171455.1:p.Gln500Ter NC_000012.12:51706577:C:T p.(Gln500Ter) NC_000012.12:51706577:C:T p.(Gln500Ter) NC_000012.12:51706577:C:T Identity +NM_001030311.3:c.1212_1222delinsATCACCA NP_001025482.1:p.Arg405fs NC_000002.12:181547836:CCTGTGCCCTC:TGGTGAT p.(Arg405AsnfsTer15) NC_000002.12:181547834:TCCCTGTGCCCTCC:TCCTGGTGAT p.(Arg405SerfsTer15) NC_000002.12:181547836:CCTGTGCCCTC:TGGTGAT Analogous +NM_000314.8:c.468_469dup NP_000305.3:p.Glu157fs NC_000010.11:87933224:GGGG:GGGGGG p.(Glu157GlyfsTer3) NC_000010.11:87933224:GGGG:GGGGGG p.(Glu157GlyfsTer3) ERR:SPDI Analogous +NM_001032221.6:c.256T>C NP_001027392.1:p.Ser86Pro NC_000009.12:127660038:T:C p.(Ser86Pro) NC_000009.12:127660038:T:C p.(Ser86Pro) NC_000009.12:127660038:T:C Identity +NM_000051.4:c.3964C>G NP_000042.3:p.Leu1322Val NC_000011.10:108284443:C:G p.(Leu1322Val) NC_000011.10:108284443:C:G p.(Leu1322Val) NC_000011.10:108284443:C:G Identity +NM_004304.5:c.896C>A NP_004295.2:p.Ser299Tyr NC_000002.12:29694905:G:T p.(Ser299Tyr) NC_000002.12:29694905:G:T p.(Ser299Tyr) NC_000002.12:29694905:G:T Identity +NM_001317184.2:c.2258A>G NP_001304113.1:p.Asn753Ser NC_000016.10:68833290:A:G p.(Asn753Ser) NC_000016.10:68833290:A:G p.(Asn753Ser) NC_000016.10:68833290:A:G Identity +NM_001002841.2:c.371C>T NP_001002841.1:p.Ser124Phe NC_000017.11:47221738:C:T p.(Ser124Phe) NC_000017.11:47221738:C:T p.(Ser124Phe) NC_000017.11:47221738:C:T Identity +NM_001277269.2:c.5471dup NP_001264198.1:p.Val1825fs NC_000011.10:17610733:AA:AAA p.(Val1825GlyfsTer34) NC_000011.10:17610733:AA:AAA p.(Val1825GlyfsTer34) ERR:SPDI Analogous +NM_001354705.2:c.710C>G NP_001341634.1:p.Thr237Ser NC_000012.12:57569542:C:G p.(Thr237Ser) NC_000012.12:57569542:C:G p.(Thr237Ser) NC_000012.12:57569542:C:G Identity +NM_000257.4:c.1606GAG[1] NP_000248.2:p.Glu537del NC_000014.9:23427861:CTCCTC:CTC p.(Glu537del) NC_000014.9:23427866:C:CTC ERR:Parse ERR:Parse Identity +NM_001256182.2:c.2237G>T NP_001243111.1:p.Arg746Ile NC_000016.10:89284304:C:A p.(Arg746Ile) NC_000016.10:89284304:C:A p.(Arg746Ile) NC_000016.10:89284304:C:A Identity +NM_001099271.2:c.233C>G NP_001092741.1:p.Ser78Cys NC_000005.10:75705777:G:C p.(Ser78Cys) NC_000005.10:75705777:G:C p.(Ser78Cys) NC_000005.10:75705777:G:C Identity +NM_001014797.3:c.733G>C NP_001014797.1:p.Glu245Gln NC_000010.11:77183495:C:G p.(Glu245Gln) NC_000010.11:77183495:C:G p.(Glu245Gln) NC_000010.11:77183495:C:G Identity +NM_001363711.2:c.2413G>T NP_001350640.1:p.Glu805Ter NC_000015.10:45104286:C:A p.(Glu805Ter) NC_000015.10:45104286:C:A p.(Glu805Ter) NC_000015.10:45104286:C:A Identity +NM_005732.4:c.1301A>C NP_005723.2:p.Asp434Ala NC_000005.10:132589685:A:C p.(Asp434Ala) NC_000005.10:132589685:A:C p.(Asp434Ala) NC_000005.10:132589685:A:C Identity +NM_000256.3:c.3418T>G NP_000247.2:p.Phe1140Val NC_000011.10:47332885:A:C p.(Phe1140Val) NC_000011.10:47332885:A:C p.(Phe1140Val) NC_000011.10:47332885:A:C Identity +NM_000444.6:c.1638C>A NP_000435.3:p.Asn546Lys NC_000023.11:22190494:C:A p.(Asn546Lys) NC_000023.11:22190494:C:A p.(Asn546Lys) NC_000023.11:22190494:C:A Identity +NM_001256053.2:c.1897T>C NP_001242982.1:p.Phe633Leu NC_000010.11:27046437:A:G p.(Phe633Leu) NC_000010.11:27046437:A:G p.(Phe633Leu) NC_000010.11:27046437:A:G Identity +NM_133259.4:c.2010_2011del NP_573566.2:p.Leu671fs NC_000002.12:43947324:GTGT:GT p.(Leu671LysfsTer3) NC_000002.12:43947324:GTGT:GT p.(Leu671LysfsTer3) NC_000002.12:43947324:GT: Analogous +NM_001130067.2:c.1118A>G NP_001123539.1:p.Asp373Gly NC_000004.12:153295724:A:G p.(Asp373Gly) NC_000004.12:153295724:A:G p.(Asp373Gly) NC_000004.12:153295724:A:G Identity +NM_001376.5:c.1407T>G NP_001367.2:p.Phe469Leu NC_000014.9:101983554:T:G p.(Phe469Leu) NC_000014.9:101983554:T:G p.(Phe469Leu) NC_000014.9:101983554:T:G Identity +NM_001127617.2:c.202G>A NP_001121089.1:p.Asp68Asn NC_000016.10:30067538:G:A p.(Asp68Asn) NC_000016.10:30067538:G:A p.(Asp68Asn) NC_000016.10:30067538:G:A Identity +NM_001410709.1:c.887C>A NP_001397638.1:p.Ala296Asp NC_000001.11:1211579:G:T p.(Ala296Asp) NC_000001.11:1211579:G:T p.(Ala296Asp) NC_000001.11:1211579:G:T Identity +NM_001079846.1:c.5353A>T NP_001073315.1:p.Ile1785Phe NC_000016.10:3729579:T:A p.(Ile1785Phe) NC_000016.10:3729579:T:A p.(Ile1785Phe) NC_000016.10:3729579:T:A Identity +NM_000256.3:c.2414G>T NP_000247.2:p.Gly805Val NC_000011.10:47337578:C:A p.(Gly805Val) NC_000011.10:47337578:C:A p.(Gly805Val) NC_000011.10:47337578:C:A Identity +NM_001406489.1:c.1008_1009del NP_001393418.1:p.Leu337fs NC_000012.12:51915459:GC: p.(Leu337GlyfsTer54) NC_000012.12:51915459:GC: p.(Leu337GlyfsTer54) NC_000012.12:51915459:GC: Analogous +NM_001849.4:c.2128G>T NP_001840.3:p.Ala710Ser NC_000021.9:46125942:G:T p.(Ala710Ser) NC_000021.9:46125942:G:T p.(Ala710Ser) NC_000021.9:46125942:G:T Identity +NM_001166133.2:c.5599C>T NP_001159605.1:p.Gln1867Ter NC_000004.12:78441230:C:T p.(Gln1867Ter) NC_000004.12:78441230:C:T p.(Gln1867Ter) NC_000004.12:78441230:C:T Identity +NM_000702.4:c.1553T>A NP_000693.1:p.Ile518Asn NC_000001.11:160130192:T:A p.(Ile518Asn) NC_000001.11:160130192:T:A p.(Ile518Asn) NC_000001.11:160130192:T:A Identity +NM_001079866.2:c.826C>T NP_001073335.1:p.Gln276Ter NC_000002.12:218662615:C:T p.(Gln276Ter) NC_000002.12:218662615:C:T p.(Gln276Ter) NC_000002.12:218662615:C:T Identity +NM_000088.4:c.530T>C NP_000079.2:p.Val177Ala NC_000017.11:50198445:A:G p.(Val177Ala) NC_000017.11:50198445:A:G p.(Val177Ala) NC_000017.11:50198445:A:G Identity +NM_000721.4:c.1097C>T NP_000712.2:p.Ala366Val NC_000001.11:181710994:C:T p.(Ala366Val) NC_000001.11:181710994:C:T p.(Ala366Val) NC_000001.11:181710994:C:T Identity +NM_001354705.2:c.2675C>A NP_001341634.1:p.Thr892Lys NC_000012.12:57581901:C:A p.(Thr892Lys) NC_000012.12:57581901:C:A p.(Thr892Lys) NC_000012.12:57581901:C:A Identity +NM_001077186.2:c.3416G>A NP_001070654.1:p.Arg1139Gln NC_000019.10:50276037:G:A p.(Arg1139Gln) NC_000019.10:50276037:G:A p.(Arg1139Gln) NC_000019.10:50276037:G:A Identity +NM_001376.5:c.10381A>G NP_001367.2:p.Ile3461Val NC_000014.9:102033451:A:G p.(Ile3461Val) NC_000014.9:102033451:A:G p.(Ile3461Val) NC_000014.9:102033451:A:G Identity +NM_006662.3:c.7282dup NP_006653.2:p.Arg2428fs NC_000016.10:30737318:CCCC:CCCCC p.(Arg2428ProfsTer15) NC_000016.10:30737318:CCCC:CCCCC p.(Arg2428ProfsTer15) ERR:SPDI Analogous +NM_001130110.2:c.311A>G NP_001123582.1:p.Lys104Arg NC_000018.10:44701656:A:G p.(Lys104Arg) NC_000018.10:44701656:A:G p.(Lys104Arg) NC_000018.10:44701656:A:G Identity +NM_001130066.2:c.3196G>T NP_001123538.1:p.Ala1066Ser NC_000006.12:33443789:G:T p.(Ala1066Ser) NC_000006.12:33443789:G:T p.(Ala1066Ser) NC_000006.12:33443789:G:T Identity +NM_006766.5:c.4579A>G NP_006757.2:p.Met1527Val NC_000008.11:41933640:T:C p.(Met1527Val) NC_000008.11:41933640:T:C p.(Met1527Val) NC_000008.11:41933640:T:C Identity +NM_001018037.2:c.6675_6682dup NP_001018047.1:p.Glu2228fs NC_000009.12:77340194:TGATAGTG:TGATAGTGTGATAGTG p.(Glu2228ValfsTer25) NC_000009.12:77340194:TGATAGTG:TGATAGTGTGATAGTG p.(Glu2228ValfsTer25) ERR:SPDI Analogous +NM_001292034.3:c.1267T>A NP_001278963.1:p.Ser423Thr NC_000006.12:149379181:T:A p.(Ser423Thr) NC_000006.12:149379181:T:A p.(Ser423Thr) NC_000006.12:149379181:T:A Identity +NM_001306219.3:c.772_773insGG NP_001293148.1:p.Leu258fs NC_000015.10:57253283::GG p.(Leu258TrpfsTer2) NC_000015.10:57253282:T:GG p.(Leu258TrpfsTer2) NC_000015.10:57253283:TT:GG Analogous +NM_001849.4:c.2132A>T NP_001840.3:p.Tyr711Phe NC_000021.9:46125946:A:T p.(Tyr711Phe) NC_000021.9:46125946:A:T p.(Tyr711Phe) NC_000021.9:46125946:A:T Identity +NM_001330384.2:c.17G>C NP_001317313.1:p.Gly6Ala NC_000019.10:15273082:C:G p.(Gly6Ala) NC_000019.10:15273082:C:G p.(Gly6Ala) NC_000019.10:15273082:C:G Identity +NM_001302946.2:c.151_160del NP_001289875.2:p.Leu51fs NC_000003.12:3137260:ATTATTTGTCA:A p.(Leu51LysfsTer6) NC_000003.12:3137260:ATTATTTGTCA:A p.(Leu51LysfsTer6) NC_000003.12:3137261:TTATTTGTCA: Analogous +NM_031407.7:c.2953C>A NP_113584.3:p.Gln985Lys NC_000023.11:53602581:G:T p.(Gln985Lys) NC_000023.11:53602581:G:T p.(Gln985Lys) NC_000023.11:53602581:G:T Identity +NM_001099274.3:c.1209G>T NP_001092744.1:p.Gln403His NC_000014.9:24240075:C:A p.(Gln403His) NC_000014.9:24240075:C:A p.(Gln403His) NC_000014.9:24240075:C:A Identity +NM_206933.4:c.8389dup NP_996816.3:p.Ser2797fs NC_000001.11:215878932:A:AA p.(Ser2797PhefsTer4) NC_000001.11:215878932:A:AA p.(Ser2797PhefsTer4) ERR:SPDI Analogous +NM_000704.3:c.34G>A NP_000695.2:p.Val12Met NC_000019.10:35563505:C:T p.(Val12Met) NC_000019.10:35563505:C:T p.(Val12Met) NC_000019.10:35563505:C:T Identity +NM_003742.4:c.1705dup NP_003733.2:p.Ile569fs NC_000002.12:168970148:T:TT p.(Ile569AsnfsTer24) NC_000002.12:168970148:T:TT p.(Ile569AsnfsTer24) ERR:SPDI Analogous +NM_001271.4:c.1575C>A NP_001262.3:p.Tyr525Ter NC_000015.10:92953428:C:A p.(Tyr525Ter) NC_000015.10:92953428:C:A p.(Tyr525Ter) NC_000015.10:92953428:C:A Identity +NM_001424108.1:c.3763G>A NP_001411037.1:p.Gly1255Arg NC_000006.12:33168535:C:T p.(Gly1255Arg) NC_000006.12:33168535:C:T p.(Gly1255Arg) NC_000006.12:33168535:C:T Identity +NM_001256324.2:c.1915C>G NP_001243253.1:p.Gln639Glu NC_000017.11:50576316:C:G p.(Gln639Glu) NC_000017.11:50576316:C:G p.(Gln639Glu) NC_000017.11:50576316:C:G Identity +NM_001029851.4:c.94G>A NP_001025022.1:p.Val32Met NC_000005.10:77211018:G:A p.(Val32Met) NC_000005.10:77211018:G:A p.(Val32Met) NC_000005.10:77211018:G:A Identity +NM_001197330.2:c.1473G>C NP_001184259.1:p.Lys491Asn NC_000014.9:49647306:C:G p.(Lys491Asn) NC_000014.9:49647306:C:G p.(Lys491Asn) NC_000014.9:49647306:C:G Identity +NM_001363734.1:c.785G>A NP_001350663.1:p.Arg262His NC_000020.11:32431667:G:A p.(Arg262His) NC_000020.11:32431667:G:A p.(Arg262His) NC_000020.11:32431667:G:A Identity +NM_001277115.2:c.4233C>G NP_001264044.1:p.His1411Gln NC_000007.14:21617755:C:G p.(His1411Gln) NC_000007.14:21617755:C:G p.(His1411Gln) NC_000007.14:21617755:C:G Identity +NM_001605.3:c.1706G>A NP_001596.2:p.Arg569Gln NC_000016.10:70261122:C:T p.(Arg569Gln) NC_000016.10:70261122:C:T p.(Arg569Gln) NC_000016.10:70261122:C:T Identity +NM_001164507.2:c.1111C>T NP_001157979.2:p.Gln371Ter NC_000002.12:151706921:G:A p.(Gln371Ter) NC_000002.12:151706921:G:A p.(Gln371Ter) NC_000002.12:151706921:G:A Identity +NM_000186.4:c.2794A>G NP_000177.2:p.Lys932Glu NC_000001.11:196740629:A:G p.(Lys932Glu) NC_000001.11:196740629:A:G p.(Lys932Glu) NC_000001.11:196740629:A:G Identity +NM_000712.4:c.109C>G NP_000703.2:p.Leu37Val NC_000007.14:43787999:C:G p.(Leu37Val) NC_000007.14:43787999:C:G p.(Leu37Val) NC_000007.14:43787999:C:G Identity +NM_001256789.3:c.1624C>T NP_001243718.1:p.Gln542Ter NC_000023.11:49225935:G:A p.(Gln542Ter) NC_000023.11:49225935:G:A p.(Gln542Ter) NC_000023.11:49225935:G:A Identity +NM_001281301.2:c.1943C>T NP_001268230.1:p.Thr648Ile NC_000015.10:69440972:C:T p.(Thr648Ile) NC_000015.10:69440972:C:T p.(Thr648Ile) NC_000015.10:69440972:C:T Identity +NM_001330384.2:c.1807G>T NP_001317313.1:p.Glu603Ter NC_000019.10:15255536:C:A p.(Glu603Ter) NC_000019.10:15255536:C:A p.(Glu603Ter) NC_000019.10:15255536:C:A Identity +NM_000307.5:c.119G>C NP_000298.3:p.Ser40Thr NC_000023.11:83508442:G:C p.(Ser40Thr) NC_000023.11:83508442:G:C p.(Ser40Thr) NC_000023.11:83508442:G:C Identity +NM_001127215.3:c.869G>A NP_001120687.1:p.Gly290Asp NC_000001.11:92480402:C:T p.(Gly290Asp) NC_000001.11:92480402:C:T p.(Gly290Asp) NC_000001.11:92480402:C:T Identity +NM_000192.3:c.1166C>A NP_000183.2:p.Pro389His NC_000012.12:114355922:G:T p.(Pro389His) NC_000012.12:114355922:G:T p.(Pro389His) NC_000012.12:114355922:G:T Identity +NM_000495.5:c.1994del NP_000486.1:p.Pro665fs NC_000023.11:108601436:CC:C p.(Pro665LeufsTer13) NC_000023.11:108601436:CC:C p.(Pro665LeufsTer13) NC_000023.11:108601437:C: Analogous +NM_001411020.1:c.3003dup NP_001397949.1:p.Ser1002fs NC_000014.9:50130735:TTTT:TTTTT p.(Ser1002IlefsTer7) NC_000014.9:50130735:TTTT:TTTTT p.(Ser1002IlefsTer7) ERR:SPDI Analogous +NM_001282750.2:c.129A>T NP_001269679.1:p.Gln43His NC_000001.11:172551577:A:T p.(Gln43His) NC_000001.11:172551577:A:T p.(Gln43His) NC_000001.11:172551577:A:T Identity +NM_001256071.3:c.7583G>A NP_001243000.2:p.Arg2528Gln NC_000017.11:80345917:G:A p.(Arg2528Gln) NC_000017.11:80345917:G:A p.(Arg2528Gln) NC_000017.11:80345917:G:A Identity +NM_001145527.2:c.1409A>G NP_001138999.1:p.Gln470Arg NC_000009.12:137757918:A:G p.(Gln470Arg) NC_000009.12:137757918:A:G p.(Gln470Arg) NC_000009.12:137757918:A:G Identity +NM_001195573.1:c.731_734del NP_001182502.1:p.Asp244fs NC_000014.9:95129471:CTGTCT:CT p.(Asp244GlyfsTer27) NC_000014.9:95129471:CTGTCT:CT p.(Asp244GlyfsTer27) NC_000014.9:95129471:CTGT: Analogous +NM_001354726.2:c.988dup NP_001341655.1:p.Arg330fs NC_000003.12:14158315:TTTTTT:TTTTTTT p.(Arg330LysfsTer15) NC_000003.12:14158315:TTTTTT:TTTTTTT p.(Arg330LysfsTer15) ERR:SPDI Analogous +NM_003235.5:c.7342C>T NP_003226.4:p.Gln2448Ter NC_000008.11:133095145:C:T p.(Gln2448Ter) NC_000008.11:133095145:C:T p.(Gln2448Ter) NC_000008.11:133095145:C:T Identity +NM_014391.3:c.700T>A NP_055206.2:p.Cys234Ser NC_000010.11:90915831:A:T p.(Cys234Ser) NC_000010.11:90915831:A:T p.(Cys234Ser) NC_000010.11:90915831:A:T Identity +NM_000094.4:c.4667del NP_000085.1:p.Lys1556fs NC_000003.12:48581911:TTTT:TTT p.(Lys1556ArgfsTer154) NC_000003.12:48581911:TTTT:TTT p.(Lys1556ArgfsTer154) NC_000003.12:48581911:T: Analogous +NM_001316690.1:c.355G>C NP_001303619.1:p.Gly119Arg NC_000008.11:60741786:G:C p.(Gly119Arg) NC_000008.11:60741786:G:C p.(Gly119Arg) NC_000008.11:60741786:G:C Identity +NM_015180.6:c.12057C>A NP_055995.4:p.Phe4019Leu NC_000014.9:64093428:C:A p.(Phe4019Leu) NC_000014.9:64093428:C:A p.(Phe4019Leu) NC_000014.9:64093428:C:A Identity +NM_001206927.2:c.7396G>T NP_001193856.1:p.Glu2466Ter NC_000006.12:38873063:G:T p.(Glu2466Ter) NC_000006.12:38873063:G:T p.(Glu2466Ter) NC_000006.12:38873063:G:T Identity +NM_001164507.2:c.6609del NP_001157979.2:p.Lys2203fs NC_000002.12:151655909:TTT:TT p.(Lys2203AsnfsTer14) NC_000002.12:151655909:TTT:TT p.(Lys2203AsnfsTer14) NC_000002.12:151655909:T: Analogous +NM_000094.4:c.6341G>C NP_000085.1:p.Gly2114Ala NC_000003.12:48574803:C:G p.(Gly2114Ala) NC_000003.12:48574803:C:G p.(Gly2114Ala) NC_000003.12:48574803:C:G Identity +NM_001382394.1:c.1568C>T NP_001369323.1:p.Ser523Leu NC_000002.12:39022838:G:A p.(Ser523Leu) NC_000002.12:39022838:G:A p.(Ser523Leu) NC_000002.12:39022838:G:A Identity +NM_001197104.2:c.11812T>C NP_001184033.1:p.Tyr3938His NC_000011.10:118522064:T:C p.(Tyr3938His) NC_000011.10:118522064:T:C p.(Tyr3938His) NC_000011.10:118522064:T:C Identity +NM_001277313.2:c.382C>T NP_001264242.1:p.Pro128Ser NC_000015.10:33154532:G:A p.(Pro128Ser) NC_000015.10:33154532:G:A p.(Pro128Ser) NC_000015.10:33154532:G:A Identity +NM_139318.5:c.908A>G NP_647479.2:p.Tyr303Cys NC_000014.9:62980905:T:C p.(Tyr303Cys) NC_000014.9:62980905:T:C p.(Tyr303Cys) NC_000014.9:62980905:T:C Identity +NM_001006600.3:c.992A>G NP_001006600.1:p.His331Arg NC_000005.10:66025948:A:G p.(His331Arg) NC_000005.10:66025948:A:G p.(His331Arg) NC_000005.10:66025948:A:G Identity +NM_001321196.2:c.1405G>C NP_001308125.1:p.Asp469His NC_000019.10:58499501:C:G p.(Asp469His) NC_000019.10:58499501:C:G p.(Asp469His) NC_000019.10:58499501:C:G Identity +NM_152594.3:c.89G>T NP_689807.1:p.Gly30Val NC_000015.10:38299428:G:T p.(Gly30Val) NC_000015.10:38299428:G:T p.(Gly30Val) NC_000015.10:38299428:G:T Identity +NM_000059.4:c.4328T>G NP_000050.3:p.Phe1443Cys NC_000013.11:32338682:T:G p.(Phe1443Cys) NC_000013.11:32338682:T:G p.(Phe1443Cys) NC_000013.11:32338682:T:G Identity +NM_001382235.1:c.987del NP_001369164.1:p.Phe329fs NC_000020.11:63438660:AAA:AA p.(Phe329LeufsTer11) NC_000020.11:63438660:AAA:AA p.(Phe329LeufsTer11) NC_000020.11:63438660:A: Analogous +NM_002317.7:c.198dup NP_002308.2:p.Gln67fs NC_000005.10:122077787:A:AA p.(Gln67SerfsTer67) NC_000005.10:122077787:A:AA p.(Gln67SerfsTer67) ERR:SPDI Analogous +NM_173598.6:c.1066C>T NP_775869.4:p.Arg356Cys NC_000012.12:117667578:G:A p.(Arg356Cys) NC_000012.12:117667578:G:A p.(Arg356Cys) NC_000012.12:117667578:G:A Identity +NM_001068.3:c.3899G>C NP_001059.2:p.Arg1300Thr NC_000003.12:25609584:C:G p.(Arg1300Thr) NC_000003.12:25609584:C:G p.(Arg1300Thr) NC_000003.12:25609584:C:G Identity +NM_031407.7:c.12074A>G NP_113584.3:p.His4025Arg NC_000023.11:53537618:T:C p.(His4025Arg) NC_000023.11:53537618:T:C p.(His4025Arg) NC_000023.11:53537618:T:C Identity +NM_001330360.2:c.365G>A NP_001317289.1:p.Arg122His NC_000023.11:24714571:G:A p.(Arg122His) NC_000023.11:24714571:G:A p.(Arg122His) NC_000023.11:24714571:G:A Identity +NM_000076.2:c.524T>C NP_000067.1:p.Val175Ala NC_000011.10:2884965:A:G p.(Val175Ala) NC_000011.10:2884965:A:G p.(Val175Ala) NC_000011.10:2884965:A:G Identity +NM_001165963.4:c.1088C>A NP_001159435.1:p.Thr363Lys NC_000002.12:166047708:G:T p.(Thr363Lys) NC_000002.12:166047708:G:T p.(Thr363Lys) NC_000002.12:166047708:G:T Identity +NM_000147.5:c.610_614del NP_000138.2:p.Gln204fs NC_000001.11:23863181:TGCTGTG:TG p.(Gln204PhefsTer15) NC_000001.11:23863181:TGCTGTG:TG p.(Gln204PhefsTer15) NC_000001.11:23863181:TGCTG: Analogous +NM_000179.3:c.628G>C NP_000170.1:p.Val210Leu NC_000002.12:47798610:G:C p.(Val210Leu) NC_000002.12:47798610:G:C p.(Val210Leu) NC_000002.12:47798610:G:C Identity +NM_000314.8:c.659_665del NP_000305.3:p.Leu220fs NC_000010.11:87957876:TAAAGGT: p.(Leu220ArgfsTer34) NC_000010.11:87957876:TAAAGGT: p.(Leu220ArgfsTer34) NC_000010.11:87957876:TAAAGGT: Analogous +NM_012463.4:c.893G>A NP_036595.2:p.Arg298His NC_000012.12:123737125:G:A p.(Arg298His) NC_000012.12:123737125:G:A p.(Arg298His) NC_000012.12:123737125:G:A Identity +NM_004863.4:c.1201C>A NP_004854.1:p.His401Asn NC_000014.9:77552197:G:T p.(His401Asn) NC_000014.9:77552197:G:T p.(His401Asn) NC_000014.9:77552197:G:T Identity +NM_001365951.3:c.2581G>A NP_001352880.1:p.Glu861Lys NC_000001.11:10324800:G:A p.(Glu861Lys) NC_000001.11:10324800:G:A p.(Glu861Lys) NC_000001.11:10324800:G:A Identity +NM_001375567.1:c.20A>T NP_001362496.1:p.Lys7Ile NC_000009.12:20715372:A:T p.(Lys7Ile) NC_000009.12:20715372:A:T p.(Lys7Ile) NC_000009.12:20715372:A:T Identity +NM_001290048.2:c.695G>A NP_001276977.1:p.Arg232Gln NC_000011.10:63643457:C:T p.(Arg232Gln) NC_000011.10:63643457:C:T p.(Arg232Gln) NC_000011.10:63643457:C:T Identity +NM_000019.4:c.372dup NP_000010.1:p.Val125fs NC_000011.10:108135176:AAA:AAAA p.(Val125SerfsTer52) NC_000011.10:108135176:AAA:AAAA p.(Val125SerfsTer52) ERR:SPDI Analogous +NM_000244.4:c.434G>A NP_000235.3:p.Ser145Asn NC_000011.10:64809675:C:T p.(Ser145Asn) NC_000011.10:64809675:C:T p.(Ser145Asn) NC_000011.10:64809675:C:T Identity +NM_001098209.2:c.1499C>T NP_001091679.1:p.Pro500Leu NC_000003.12:41233841:C:T p.(Pro500Leu) NC_000003.12:41233841:C:T p.(Pro500Leu) NC_000003.12:41233841:C:T Identity +NM_001376475.1:c.345dup NP_001363404.1:p.Val116fs NC_000022.11:50079995:AAA:AAAA p.(Val116CysfsTer65) NC_000022.11:50079995:AAA:AAAA p.(Val116CysfsTer65) ERR:SPDI Analogous +NM_001287489.2:c.354T>A NP_001274418.1:p.Tyr118Ter NC_000002.12:26516572:A:T p.(Tyr118Ter) NC_000002.12:26516572:A:T p.(Tyr118Ter) NC_000002.12:26516572:A:T Identity +NM_006231.4:c.6255G>C NP_006222.2:p.Glu2085Asp NC_000012.12:132632389:C:G p.(Glu2085Asp) NC_000012.12:132632389:C:G p.(Glu2085Asp) NC_000012.12:132632389:C:G Identity +NM_001080414.4:c.5120dup NP_001073883.2:p.Ala1708fs NC_000014.9:91273591:GGGGG:GGGGGG p.(Ala1708SerfsTer52) NC_000014.9:91273591:GGGGG:GGGGGG p.(Ala1708SerfsTer52) ERR:SPDI Analogous +NM_001146289.2:c.791del NP_001139761.1:p.Leu264fs NC_000001.11:42759217:A: p.(Leu264ProfsTer73) NC_000001.11:42759217:A: p.(Leu264ProfsTer73) NC_000001.11:42759217:A: Analogous +NM_000489.6:c.1387A>C NP_000480.3:p.Lys463Gln NC_000023.11:77683868:T:G p.(Lys463Gln) NC_000023.11:77683868:T:G p.(Lys463Gln) NC_000023.11:77683868:T:G Identity +NM_001165963.4:c.5430G>T NP_001159435.1:p.Glu1810Asp NC_000002.12:165991844:C:A p.(Glu1810Asp) NC_000002.12:165991844:C:A p.(Glu1810Asp) NC_000002.12:165991844:C:A Identity +NM_001081676.2:c.5084C>A NP_001075145.1:p.Pro1695Gln NC_000002.12:165090921:G:T p.(Pro1695Gln) NC_000002.12:165090921:G:T p.(Pro1695Gln) NC_000002.12:165090921:G:T Identity +NM_005879.3:c.529C>T NP_005870.2:p.Arg177Cys NC_000003.12:49841913:G:A p.(Arg177Cys) NC_000003.12:49841913:G:A p.(Arg177Cys) NC_000003.12:49841913:G:A Identity +NM_006244.4:c.661T>C NP_006235.1:p.Tyr221His NC_000011.10:64928363:T:C p.(Tyr221His) NC_000011.10:64928363:T:C p.(Tyr221His) NC_000011.10:64928363:T:C Identity +NM_000109.4:c.3576G>A NP_000100.3:p.Met1192Ile NC_000023.11:32454664:C:T p.(Met1192Ile) NC_000023.11:32454664:C:T p.(Met1192Ile) NC_000023.11:32454664:C:T Identity +NM_001320867.2:c.430dup NP_001307796.1:p.Ala144fs NC_000019.10:43511478:C:CC p.(Ala144GlyfsTer26) NC_000019.10:43511478:C:CC p.(Ala144GlyfsTer26) ERR:SPDI Analogous +NM_016350.5:c.2005A>G NP_057434.4:p.Ile669Val NC_000014.9:50760250:T:C p.(Ile669Val) NC_000014.9:50760250:T:C p.(Ile669Val) NC_000014.9:50760250:T:C Identity +NM_000214.3:c.2595dup NP_000205.1:p.Met866fs NC_000020.11:10641869:GG:GGG p.(Met866HisfsTer13) NC_000020.11:10641869:GG:GGG p.(Met866HisfsTer13) ERR:SPDI Analogous +NM_001164507.2:c.25165del NP_001157979.2:p.Arg8389fs NC_000002.12:151490503:GG:G p.(Arg8389GlyfsTer12) NC_000002.12:151490503:GG:G p.(Arg8389GlyfsTer12) NC_000002.12:151490503:G: Analogous +NM_005560.6:c.3541C>T NP_005551.3:p.Arg1181Cys NC_000020.11:62332382:G:A p.(Arg1181Cys) NC_000020.11:62332382:G:A p.(Arg1181Cys) NC_000020.11:62332382:G:A Identity +NM_001453.3:c.1179C>G NP_001444.2:p.Tyr393Ter NC_000006.12:1611623:C:G p.(Tyr393Ter) NC_000006.12:1611623:C:G p.(Tyr393Ter) NC_000006.12:1611623:C:G Identity +NM_000188.3:c.2097C>G NP_000179.2:p.Asp699Glu NC_000010.11:69392185:C:G p.(Asp699Glu) NC_000010.11:69392185:C:G p.(Asp699Glu) NC_000010.11:69392185:C:G Identity +NM_019888.3:c.765G>C NP_063941.3:p.Trp255Cys NC_000020.11:56249607:G:C p.(Trp255Cys) NC_000020.11:56249607:G:C p.(Trp255Cys) NC_000020.11:56249607:G:C Identity +NM_001378761.1:c.5194G>A NP_001365690.1:p.Val1732Ile NC_000011.10:121153011:G:A p.(Val1732Ile) NC_000011.10:121153011:G:A p.(Val1732Ile) NC_000011.10:121153011:G:A Identity +NM_001290184.2:c.917T>C NP_001277113.1:p.Met306Thr NC_000001.11:160352186:T:C p.(Met306Thr) NC_000001.11:160352186:T:C p.(Met306Thr) NC_000001.11:160352186:T:C Identity +NM_001291411.2:c.4573G>A NP_001278340.2:p.Glu1525Lys NC_000021.9:33553803:G:A p.(Glu1525Lys) NC_000021.9:33553803:G:A p.(Glu1525Lys) NC_000021.9:33553803:G:A Identity +NM_005257.6:c.1634T>G NP_005248.2:p.Val545Gly NC_000018.10:22200668:T:G p.(Val545Gly) NC_000018.10:22200668:T:G p.(Val545Gly) NC_000018.10:22200668:T:G Identity +NM_080476.5:c.353A>G NP_536724.1:p.Gln118Arg NC_000020.11:34637950:T:C p.(Gln118Arg) NC_000020.11:34637950:T:C p.(Gln118Arg) NC_000020.11:34637950:T:C Identity +NM_032119.4:c.17734del NP_115495.3:p.Ser5912fs NC_000005.10:90855878:TT:T p.(Ser5912LeufsTer30) NC_000005.10:90855878:TT:T p.(Ser5912LeufsTer30) NC_000005.10:90855879:T: Analogous +NM_000057.4:c.2942G>C NP_000048.1:p.Gly981Ala NC_000015.10:90790766:G:C p.(Gly981Ala) NC_000015.10:90790766:G:C p.(Gly981Ala) NC_000015.10:90790766:G:C Identity +NM_000704.3:c.2713C>A NP_000695.2:p.His905Asn NC_000019.10:35553074:G:T p.(His905Asn) NC_000019.10:35553074:G:T p.(His905Asn) NC_000019.10:35553074:G:T Identity +NM_001278064.2:c.1853G>A NP_001264993.1:p.Arg618Gln NC_000006.12:146398891:G:A p.(Arg618Gln) NC_000006.12:146398891:G:A p.(Arg618Gln) NC_000006.12:146398891:G:A Identity +NM_018706.7:c.1711T>C NP_061176.4:p.Trp571Arg NC_000010.11:12100216:T:C p.(Trp571Arg) NC_000010.11:12100216:T:C p.(Trp571Arg) NC_000010.11:12100216:T:C Identity +NM_001111125.3:c.1603A>C NP_001104595.1:p.Thr535Pro NC_000023.11:53250972:T:G p.(Thr535Pro) NC_000023.11:53250972:T:G p.(Thr535Pro) NC_000023.11:53250972:T:G Identity +NM_005144.5:c.2059C>T NP_005135.2:p.Arg687Trp NC_000008.11:22122554:G:A p.(Arg687Trp) NC_000008.11:22122554:G:A p.(Arg687Trp) NC_000008.11:22122554:G:A Identity +NM_014384.3:c.886C>T NP_055199.1:p.Arg296Ter NC_000011.10:134261318:C:T p.(Arg296Ter) NC_000011.10:134261318:C:T p.(Arg296Ter) NC_000011.10:134261318:C:T Identity +NM_001308133.2:c.4145A>T NP_001295062.1:p.Asp1382Val NC_000014.9:45181429:A:T p.(Asp1382Val) NC_000014.9:45181429:A:T p.(Asp1382Val) NC_000014.9:45181429:A:T Identity +NM_001142281.2:c.640A>G NP_001135753.1:p.Met214Val NC_000011.10:118590425:A:G p.(Met214Val) NC_000011.10:118590425:A:G p.(Met214Val) NC_000011.10:118590425:A:G Identity +NM_006734.4:c.434G>A NP_006725.3:p.Gly145Asp NC_000006.12:142774304:C:T p.(Gly145Asp) NC_000006.12:142774304:C:T p.(Gly145Asp) NC_000006.12:142774304:C:T Identity +NM_001347721.2:c.473A>G NP_001334650.1:p.Lys158Arg NC_000021.9:37480809:A:G p.(Lys158Arg) NC_000021.9:37480809:A:G p.(Lys158Arg) NC_000021.9:37480809:A:G Identity +NM_004589.4:c.835C>T NP_004580.1:p.Gln279Ter NC_000017.11:10681189:G:A p.(Gln279Ter) NC_000017.11:10681189:G:A p.(Gln279Ter) NC_000017.11:10681189:G:A Identity +NM_001353229.2:c.25C>T NP_001340158.1:p.His9Tyr NC_000017.11:17228112:G:A p.(His9Tyr) NC_000017.11:17228112:G:A p.(His9Tyr) NC_000017.11:17228112:G:A Identity +NM_004304.5:c.2128C>A NP_004295.2:p.Leu710Met NC_000002.12:29251180:G:T p.(Leu710Met) NC_000002.12:29251180:G:T p.(Leu710Met) NC_000002.12:29251180:G:T Identity +NM_000033.4:c.266G>A NP_000024.2:p.Arg89Gln NC_000023.11:153725531:G:A p.(Arg89Gln) NC_000023.11:153725531:G:A p.(Arg89Gln) NC_000023.11:153725531:G:A Identity +NM_001184.4:c.3409C>T NP_001175.2:p.Gln1137Ter NC_000003.12:142542705:G:A p.(Gln1137Ter) NC_000003.12:142542705:G:A p.(Gln1137Ter) NC_000003.12:142542705:G:A Identity +NM_001081.4:c.685A>G NP_001072.2:p.Ile229Val NC_000010.11:17115505:T:C p.(Ile229Val) NC_000010.11:17115505:T:C p.(Ile229Val) NC_000010.11:17115505:T:C Identity +NM_000268.4:c.1669G>A NP_000259.1:p.Ala557Thr NC_000022.11:29681532:G:A p.(Ala557Thr) NC_000022.11:29681532:G:A p.(Ala557Thr) NC_000022.11:29681532:G:A Identity +NM_001306129.2:c.6785C>T NP_001293058.2:p.Thr2262Met NC_000002.12:215368002:G:A p.(Thr2262Met) NC_000002.12:215368002:G:A p.(Thr2262Met) NC_000002.12:215368002:G:A Identity +NM_001363520.3:c.738del NP_001350449.1:p.Ala247fs NC_000004.12:127930741:AA:A p.(Ala247LeufsTer12) NC_000004.12:127930741:AA:A p.(Ala247LeufsTer12) NC_000004.12:127930741:A: Analogous +NM_001029882.3:c.4750G>A NP_001025053.1:p.Gly1584Ser NC_000001.11:27547365:C:T p.(Gly1584Ser) NC_000001.11:27547365:C:T p.(Gly1584Ser) NC_000001.11:27547365:C:T Identity +NM_170606.3:c.6466A>C NP_733751.2:p.Thr2156Pro NC_000007.14:152181393:T:G p.(Thr2156Pro) NC_000007.14:152181393:T:G p.(Thr2156Pro) NC_000007.14:152181393:T:G Identity +NM_005477.3:c.569T>C NP_005468.1:p.Val190Ala NC_000015.10:73367701:A:G p.(Val190Ala) NC_000015.10:73367701:A:G p.(Val190Ala) NC_000015.10:73367701:A:G Identity +NM_017890.5:c.6303C>A NP_060360.3:p.Tyr2101Ter NC_000008.11:99699705:C:A p.(Tyr2101Ter) NC_000008.11:99699705:C:A p.(Tyr2101Ter) NC_000008.11:99699705:C:A Identity +NM_033343.4:c.847G>A NP_203129.1:p.Gly283Arg NC_000001.11:180274252:G:A p.(Gly283Arg) NC_000001.11:180274252:G:A p.(Gly283Arg) NC_000001.11:180274252:G:A Identity +NM_000276.4:c.1898C>T NP_000267.2:p.Ser633Phe NC_000023.11:129576334:C:T p.(Ser633Phe) NC_000023.11:129576334:C:T p.(Ser633Phe) NC_000023.11:129576334:C:T Identity +NM_005245.4:c.642G>C NP_005236.2:p.Glu214Asp NC_000004.12:186709185:C:G p.(Glu214Asp) NC_000004.12:186709185:C:G p.(Glu214Asp) NC_000004.12:186709185:C:G Identity +NM_001330588.2:c.3253A>G NP_001317517.1:p.Arg1085Gly NC_000013.11:102664806:A:G p.(Arg1085Gly) NC_000013.11:102664806:A:G p.(Arg1085Gly) NC_000013.11:102664806:A:G Identity +NM_001199579.2:c.751G>C NP_001186508.1:p.Ala251Pro NC_000022.11:38745808:C:G p.(Ala251Pro) NC_000022.11:38745808:C:G p.(Ala251Pro) NC_000022.11:38745808:C:G Identity +NM_001321196.2:c.1749C>G NP_001308125.1:p.Asn583Lys NC_000019.10:58498586:G:C p.(Asn583Lys) NC_000019.10:58498586:G:C p.(Asn583Lys) NC_000019.10:58498586:G:C Identity +NM_001012505.2:c.175C>G NP_001012523.1:p.Gln59Glu NC_000003.12:71198206:G:C p.(Gln59Glu) NC_000003.12:71198206:G:C p.(Gln59Glu) NC_000003.12:71198206:G:C Identity +NM_001142519.3:c.677G>T NP_001135991.1:p.Cys226Phe NC_000011.10:59152344:G:T p.(Cys226Phe) NC_000011.10:59152344:G:T p.(Cys226Phe) NC_000011.10:59152344:G:T Identity +NM_001256876.3:c.211G>A NP_001243805.1:p.Val71Met NC_000009.12:710976:G:A p.(Val71Met) NC_000009.12:710976:G:A p.(Val71Met) NC_000009.12:710976:G:A Identity +NM_014727.3:c.4342G>A NP_055542.1:p.Gly1448Ser NC_000019.10:35727736:G:A p.(Gly1448Ser) NC_000019.10:35727736:G:A p.(Gly1448Ser) NC_000019.10:35727736:G:A Identity +NM_001849.4:c.2797C>G NP_001840.3:p.Arg933Gly NC_000021.9:46132288:C:G p.(Arg933Gly) NC_000021.9:46132288:C:G p.(Arg933Gly) NC_000021.9:46132288:C:G Identity +NM_000540.3:c.12961C>T NP_000531.2:p.Arg4321Trp NC_000019.10:38565294:C:T p.(Arg4321Trp) NC_000019.10:38565294:C:T p.(Arg4321Trp) NC_000019.10:38565294:C:T Identity +NM_000540.3:c.13033_13067del NP_000531.2:p.Ala4345fs NC_000019.10:38565356:GCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGG:GCGCGCTGGG p.(Ala4345ProfsTer226) NC_000019.10:38565356:GCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGG:GCGCGCTGGG p.(Ala4345ProfsTer226) NC_000019.10:38565366:GCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGG: Analogous +NM_019098.5:c.2132AAG[1] NP_061971.3:p.Glu712del NC_000008.11:86576096:CTTCTTC:CTTC p.(Glu712del) NC_000008.11:86576101:T:CTT ERR:Parse ERR:Parse Identity +NM_017819.4:c.28A>G NP_060289.2:p.Ser10Gly NC_000003.12:101564808:A:G p.(Ser10Gly) NC_000003.12:101564808:A:G p.(Ser10Gly) NC_000003.12:101564808:A:G Identity +NM_003059.3:c.630C>G NP_003050.2:p.Asn210Lys NC_000005.10:132313745:C:G p.(Asn210Lys) NC_000005.10:132313745:C:G p.(Asn210Lys) NC_000005.10:132313745:C:G Identity +NM_001166108.2:c.2120G>C NP_001159580.1:p.Arg707Thr NC_000004.12:168894597:G:C p.(Arg707Thr) NC_000004.12:168894597:G:C p.(Arg707Thr) NC_000004.12:168894597:G:C Identity +NM_001040108.2:c.3713T>C NP_001035197.1:p.Ile1238Thr NC_000014.9:75033420:A:G p.(Ile1238Thr) NC_000014.9:75033420:A:G p.(Ile1238Thr) NC_000014.9:75033420:A:G Identity +NM_000090.4:c.3437del NP_000081.2:p.Gly1146fs NC_000002.12:189008052:GG:G p.(Gly1146AspfsTer90) NC_000002.12:189008052:GG:G p.(Gly1146AspfsTer90) NC_000002.12:189008053:G: Analogous +NM_001256053.2:c.3868A>G NP_001242982.1:p.Lys1290Glu NC_000010.11:27029292:T:C p.(Lys1290Glu) NC_000010.11:27029292:T:C p.(Lys1290Glu) NC_000010.11:27029292:T:C Identity +NM_005751.5:c.869A>C NP_005742.4:p.Lys290Thr NC_000007.14:91995738:A:C p.(Lys290Thr) NC_000007.14:91995738:A:C p.(Lys290Thr) NC_000007.14:91995738:A:C Identity +NM_001100913.3:c.436C>A NP_001094383.2:p.Pro146Thr NC_000014.9:105367224:C:A p.(Pro146Thr) NC_000014.9:105367224:C:A p.(Pro146Thr) NC_000014.9:105367224:C:A Identity +NM_000435.3:c.2918A>C NP_000426.2:p.His973Pro NC_000019.10:15181036:T:G p.(His973Pro) NC_000019.10:15181036:T:G p.(His973Pro) NC_000019.10:15181036:T:G Identity +NM_004369.4:c.245A>G NP_004360.2:p.Gln82Arg NC_000002.12:237395050:T:C p.(Gln82Arg) NC_000002.12:237395050:T:C p.(Gln82Arg) NC_000002.12:237395050:T:C Identity +NM_001348181.2:c.2642G>A NP_001335110.1:p.Gly881Glu NC_000002.12:24258091:C:T p.(Gly881Glu) NC_000002.12:24258091:C:T p.(Gly881Glu) NC_000002.12:24258091:C:T Identity +NM_000334.4:c.3184C>T NP_000325.4:p.Arg1062Cys NC_000017.11:63948023:G:A p.(Arg1062Cys) NC_000017.11:63948023:G:A p.(Arg1062Cys) NC_000017.11:63948023:G:A Identity +NM_001258214.1:c.1883C>T NP_001245143.1:p.Ala628Val NC_000001.11:67386605:C:T p.(Ala628Val) NC_000001.11:67386605:C:T p.(Ala628Val) NC_000001.11:67386605:C:T Identity +NM_006662.3:c.7133C>T NP_006653.2:p.Thr2378Ile NC_000016.10:30737172:C:T p.(Thr2378Ile) NC_000016.10:30737172:C:T p.(Thr2378Ile) NC_000016.10:30737172:C:T Identity +NM_001257374.3:c.548C>A NP_001244303.1:p.Ser183Ter NC_000001.11:156135259:C:A p.(Ser183Ter) NC_000001.11:156135259:C:A p.(Ser183Ter) NC_000001.11:156135259:C:A Identity +NM_001099400.2:c.410G>C NP_001092870.1:p.Arg137Pro NC_000007.14:94623377:C:G p.(Arg137Pro) NC_000007.14:94623377:C:G p.(Arg137Pro) NC_000007.14:94623377:C:G Identity +NM_178862.3:c.2378A>C NP_849193.1:p.Lys793Thr NC_000003.12:31633124:A:C p.(Lys793Thr) NC_000003.12:31633124:A:C p.(Lys793Thr) NC_000003.12:31633124:A:C Identity +NM_001127231.3:c.596G>A NP_001120703.1:p.Arg199Gln NC_000007.14:70118204:G:A p.(Arg199Gln) NC_000007.14:70118204:G:A p.(Arg199Gln) NC_000007.14:70118204:G:A Identity +NM_000109.4:c.6269G>A NP_000100.3:p.Arg2090Gln NC_000023.11:32217060:C:T p.(Arg2090Gln) NC_000023.11:32217060:C:T p.(Arg2090Gln) NC_000023.11:32217060:C:T Identity +NM_001411101.1:c.3205C>T NP_001398030.1:p.Gln1069Ter NC_000017.11:82937334:C:T p.(Gln1069Ter) NC_000017.11:82937334:C:T p.(Gln1069Ter) NC_000017.11:82937334:C:T Identity +NM_001277115.2:c.4625C>T NP_001264044.1:p.Thr1542Ile NC_000007.14:21635994:C:T p.(Thr1542Ile) NC_000007.14:21635994:C:T p.(Thr1542Ile) NC_000007.14:21635994:C:T Identity +NM_032119.4:c.16387dup NP_115495.3:p.Tyr5463fs NC_000005.10:90828961:T:TT p.(Tyr5463LeufsTer8) NC_000005.10:90828961:T:TT p.(Tyr5463LeufsTer8) ERR:SPDI Analogous +NM_002890.3:c.154C>G NP_002881.1:p.Leu52Val NC_000005.10:87268604:C:G p.(Leu52Val) NC_000005.10:87268604:C:G p.(Leu52Val) NC_000005.10:87268604:C:G Identity +NM_001378183.1:c.685A>C NP_001365112.1:p.Ile229Leu NC_000018.10:10857018:T:G p.(Ile229Leu) NC_000018.10:10857018:T:G p.(Ile229Leu) NC_000018.10:10857018:T:G Identity +NM_001145337.3:c.359C>T NP_001138809.1:p.Thr120Ile NC_000012.12:68824380:C:T p.(Thr120Ile) NC_000012.12:68824380:C:T p.(Thr120Ile) NC_000012.12:68824380:C:T Identity +NM_001407296.1:c.2582G>C NP_001394225.1:p.Gly861Ala NC_000016.10:23626341:C:G p.(Gly861Ala) NC_000016.10:23626341:C:G p.(Gly861Ala) NC_000016.10:23626341:C:G Identity +NM_001321431.2:c.6280G>A NP_001308360.1:p.Val2094Ile NC_000019.10:8089640:C:T p.(Val2094Ile) NC_000019.10:8089640:C:T p.(Val2094Ile) NC_000019.10:8089640:C:T Identity +NM_001136191.3:c.182G>A NP_001129663.1:p.Arg61His NC_000019.10:11193897:C:T p.(Arg61His) NC_000019.10:11193897:C:T p.(Arg61His) NC_000019.10:11193897:C:T Identity +NM_000062.3:c.1273del NP_000053.2:p.Asn426fs NC_000011.10:57614349:CC:C p.(Asn426ThrfsTer5) NC_000011.10:57614349:CC:C p.(Asn426ThrfsTer5) NC_000011.10:57614350:C: Analogous +NM_001164507.2:c.3784A>G NP_001157979.2:p.Lys1262Glu NC_000002.12:151675381:T:C p.(Lys1262Glu) NC_000002.12:151675381:T:C p.(Lys1262Glu) NC_000002.12:151675381:T:C Identity +NM_003396.3:c.974G>A NP_003387.1:p.Arg325His NC_000017.11:46876617:G:A p.(Arg325His) NC_000017.11:46876617:G:A p.(Arg325His) NC_000017.11:46876617:G:A Identity +NM_001278463.2:c.680T>C NP_001265392.1:p.Met227Thr NC_000012.12:32718702:T:C p.(Met227Thr) NC_000012.12:32718702:T:C p.(Met227Thr) NC_000012.12:32718702:T:C Identity +NM_000240.4:c.1279G>A NP_000231.1:p.Val427Met NC_000023.11:43743809:G:A p.(Val427Met) NC_000023.11:43743809:G:A p.(Val427Met) NC_000023.11:43743809:G:A Identity +NM_001306153.1:c.1154T>C NP_001293082.1:p.Leu385Ser NC_000005.10:10262517:T:C p.(Leu385Ser) NC_000005.10:10262517:T:C p.(Leu385Ser) NC_000005.10:10262517:T:C Identity +NM_000179.3:c.1918G>A NP_000170.1:p.Glu640Lys NC_000002.12:47799900:G:A p.(Glu640Lys) NC_000002.12:47799900:G:A p.(Glu640Lys) NC_000002.12:47799900:G:A Identity +NM_001376.5:c.11956G>A NP_001367.2:p.Ala3986Thr NC_000014.9:102041587:G:A p.(Ala3986Thr) NC_000014.9:102041587:G:A p.(Ala3986Thr) NC_000014.9:102041587:G:A Identity +NM_001004426.3:c.606G>A NP_001004426.1:p.Leu202= NC_000022.11:38143107:C:T p.(Leu202=) NC_000022.11:38143107:C:T p.(Leu202=) NC_000022.11:38143107:C:T Identity +NM_007129.5:c.1255C>A NP_009060.2:p.Pro419Thr NC_000013.11:99985337:C:A p.(Pro419Thr) NC_000013.11:99985337:C:A p.(Pro419Thr) NC_000013.11:99985337:C:A Identity +NM_001362884.2:c.1120G>A NP_001349813.1:p.Gly374Ser NC_000008.11:20252810:C:T p.(Gly374Ser) NC_000008.11:20252810:C:T p.(Gly374Ser) NC_000008.11:20252810:C:T Identity +NM_024700.4:c.557G>A NP_078976.2:p.Arg186Gln NC_000001.11:37540525:C:T p.(Arg186Gln) NC_000001.11:37540525:C:T p.(Arg186Gln) NC_000001.11:37540525:C:T Identity +NM_001164507.2:c.11636G>T NP_001157979.2:p.Gly3879Val NC_000002.12:151612354:C:A p.(Gly3879Val) NC_000002.12:151612354:C:A p.(Gly3879Val) NC_000002.12:151612354:C:A Identity +NM_000341.4:c.919G>C NP_000332.2:p.Gly307Arg NC_000002.12:44299997:G:C p.(Gly307Arg) NC_000002.12:44299997:G:C p.(Gly307Arg) NC_000002.12:44299997:G:C Identity +NM_001330311.2:c.1294C>T NP_001317240.1:p.Arg432Cys NC_000001.11:1338566:G:A p.(Arg432Cys) NC_000001.11:1338566:G:A p.(Arg432Cys) NC_000001.11:1338566:G:A Identity +NM_001190274.2:c.290G>A NP_001177203.1:p.Ser97Asn NC_000002.12:47839711:C:T p.(Ser97Asn) NC_000002.12:47839711:C:T p.(Ser97Asn) NC_000002.12:47839711:C:T Identity +NM_012238.5:c.143C>T NP_036370.2:p.Pro48Leu NC_000010.11:67884863:C:T p.(Pro48Leu) NC_000010.11:67884863:C:T p.(Pro48Leu) NC_000010.11:67884863:C:T Identity +NM_002470.4:c.5286C>G NP_002461.2:p.Asp1762Glu NC_000017.11:10631610:G:C p.(Asp1762Glu) NC_000017.11:10631610:G:C p.(Asp1762Glu) NC_000017.11:10631610:G:C Identity +NM_021072.4:c.113G>A NP_066550.2:p.Arg38His NC_000005.10:45695980:C:T p.(Arg38His) NC_000005.10:45695980:C:T p.(Arg38His) NC_000005.10:45695980:C:T Identity +NM_001085411.3:c.1175G>A NP_001078880.1:p.Arg392His NC_000005.10:36197555:C:T p.(Arg392His) NC_000005.10:36197555:C:T p.(Arg392His) NC_000005.10:36197555:C:T Identity +NM_001349608.2:c.1697C>T NP_001336537.1:p.Thr566Met NC_000001.11:7664333:C:T p.(Thr566Met) NC_000001.11:7664333:C:T p.(Thr566Met) NC_000001.11:7664333:C:T Identity +NM_001099952.4:c.3898A>G NP_001093422.2:p.Ile1300Val NC_000003.12:4691239:A:G p.(Ile1300Val) NC_000003.12:4691239:A:G p.(Ile1300Val) NC_000003.12:4691239:A:G Identity +NM_001031689.3:c.997A>C NP_001026859.1:p.Asn333His NC_000009.12:26923219:T:G p.(Asn333His) NC_000009.12:26923219:T:G p.(Asn333His) NC_000009.12:26923219:T:G Identity +NM_001416202.1:c.3583G>A NP_001403131.1:p.Val1195Met NC_000012.12:53062160:G:A p.(Val1195Met) NC_000012.12:53062160:G:A p.(Val1195Met) NC_000012.12:53062160:G:A Identity +NM_004813.4:c.311G>A NP_004804.2:p.Trp104Ter NC_000011.10:45915750:C:T p.(Trp104Ter) NC_000011.10:45915750:C:T p.(Trp104Ter) NC_000011.10:45915750:C:T Identity +NM_000142.5:c.1493G>A NP_000133.1:p.Arg498Gln NC_000004.12:1805434:G:A p.(Arg498Gln) NC_000004.12:1805434:G:A p.(Arg498Gln) NC_000004.12:1805434:G:A Identity +NM_004949.5:c.296C>T NP_004940.1:p.Ser99Phe NC_000018.10:31092158:G:A p.(Ser99Phe) NC_000018.10:31092158:G:A p.(Ser99Phe) NC_000018.10:31092158:G:A Identity +NM_001846.4:c.953A>G NP_001837.2:p.Gln318Arg NC_000013.11:110439828:A:G p.(Gln318Arg) NC_000013.11:110439828:A:G p.(Gln318Arg) NC_000013.11:110439828:A:G Identity +NM_172364.5:c.827G>A NP_758952.4:p.Cys276Tyr NC_000012.12:1887023:C:T p.(Cys276Tyr) NC_000012.12:1887023:C:T p.(Cys276Tyr) NC_000012.12:1887023:C:T Identity +NM_000256.3:c.1699G>T NP_000247.2:p.Glu567Ter NC_000011.10:47342081:C:A p.(Glu567Ter) NC_000011.10:47342081:C:A p.(Glu567Ter) NC_000011.10:47342081:C:A Identity +NM_000833.5:c.197A>G NP_000824.1:p.Asp66Gly NC_000016.10:10180214:T:C p.(Asp66Gly) NC_000016.10:10180214:T:C p.(Asp66Gly) NC_000016.10:10180214:T:C Identity +NM_001148.6:c.6142C>G NP_001139.3:p.Gln2048Glu NC_000004.12:113354759:C:G p.(Gln2048Glu) NC_000004.12:113354759:C:G p.(Gln2048Glu) NC_000004.12:113354759:C:G Identity +NM_001204824.2:c.1216C>T NP_001191753.1:p.Gln406Ter NC_000008.11:132138008:G:A p.(Gln406Ter) NC_000008.11:132138008:G:A p.(Gln406Ter) NC_000008.11:132138008:G:A Identity +NM_000183.3:c.747_748del NP_000174.1:p.His249fs NC_000002.12:26279248:CACA:CA p.(His249GlnfsTer9) NC_000002.12:26279248:CACA:CA p.(His249GlnfsTer9) NC_000002.12:26279250:CA: Analogous +NM_000527.5:c.480_492del NP_000518.1:p.Ile161fs NC_000019.10:11105382:CTGCATCCCCCAGCTG:CTG p.(Ile161GlyfsTer41) NC_000019.10:11105382:CTGCATCCCCCAGCTG:CTG p.(Ile161GlyfsTer41) NC_000019.10:11105385:CATCCCCCAGCTG: Analogous +NM_000288.4:c.184A>G NP_000279.1:p.Arg62Gly NC_000006.12:136825266:A:G p.(Arg62Gly) NC_000006.12:136825266:A:G p.(Arg62Gly) NC_000006.12:136825266:A:G Identity +NM_002234.4:c.244C>T NP_002225.2:p.Pro82Ser NC_000012.12:5044390:C:T p.(Pro82Ser) NC_000012.12:5044390:C:T p.(Pro82Ser) NC_000012.12:5044390:C:T Identity +NM_000109.4:c.3512A>G NP_000100.3:p.Glu1171Gly NC_000023.11:32454728:T:C p.(Glu1171Gly) NC_000023.11:32454728:T:C p.(Glu1171Gly) NC_000023.11:32454728:T:C Identity +NM_001367804.2:c.2100C>A NP_001354733.1:p.Asn700Lys NC_000015.10:69440799:C:A p.(Asn700Lys) NC_000015.10:69440799:C:A p.(Asn700Lys) NC_000015.10:69440799:C:A Identity +NM_006662.3:c.9439G>A NP_006653.2:p.Gly3147Arg NC_000016.10:30739478:G:A p.(Gly3147Arg) NC_000016.10:30739478:G:A p.(Gly3147Arg) NC_000016.10:30739478:G:A Identity +NM_001385060.1:c.2185C>T NP_001371989.1:p.Arg729Cys NC_000003.12:151447795:G:A p.(Arg729Cys) NC_000003.12:151447795:G:A p.(Arg729Cys) NC_000003.12:151447795:G:A Identity +NM_001844.5:c.1348G>T NP_001835.3:p.Gly450Cys NC_000012.12:47987094:C:A p.(Gly450Cys) NC_000012.12:47987094:C:A p.(Gly450Cys) NC_000012.12:47987094:C:A Identity +NM_001271995.2:c.1150C>G NP_001258924.1:p.Arg384Gly NC_000019.10:4171735:C:G p.(Arg384Gly) NC_000019.10:4171735:C:G p.(Arg384Gly) NC_000019.10:4171735:C:G Identity +NM_145046.5:c.293A>G NP_659483.2:p.Lys98Arg NC_000019.10:16490470:T:C p.(Lys98Arg) NC_000019.10:16490470:T:C p.(Lys98Arg) NC_000019.10:16490470:T:C Identity +NM_000264.5:c.2059G>T NP_000255.2:p.Val687Leu NC_000009.12:95468941:C:A p.(Val687Leu) NC_000009.12:95468941:C:A p.(Val687Leu) NC_000009.12:95468941:C:A Identity +NM_001083899.2:c.942C>T NP_001077368.2:p.Pro314= NC_000019.10:55015002:G:A p.(Pro314=) NC_000019.10:55015002:G:A p.(Pro314=) NC_000019.10:55015002:G:A Identity +NM_001323996.1:c.1523C>G NP_001310925.1:p.Thr508Arg NC_000005.10:138934000:C:G p.(Thr508Arg) NC_000005.10:138934000:C:G p.(Thr508Arg) NC_000005.10:138934000:C:G Identity +NM_004387.4:c.584G>C NP_004378.1:p.Arg195Pro NC_000005.10:173232959:C:G p.(Arg195Pro) NC_000005.10:173232959:C:G p.(Arg195Pro) NC_000005.10:173232959:C:G Identity +NM_000505.4:c.922T>A NP_000496.2:p.Ser308Thr NC_000005.10:177404291:A:T p.(Ser308Thr) NC_000005.10:177404291:A:T p.(Ser308Thr) NC_000005.10:177404291:A:T Identity +NM_005876.5:c.1867A>G NP_005867.3:p.Thr623Ala NC_000002.12:219449024:A:G p.(Thr623Ala) NC_000002.12:219449024:A:G p.(Thr623Ala) NC_000002.12:219449024:A:G Identity +NM_001353765.2:c.478C>T NP_001340694.1:p.His160Tyr NC_000002.12:29214044:G:A p.(His160Tyr) NC_000002.12:29214044:G:A p.(His160Tyr) NC_000002.12:29214044:G:A Identity +NM_000553.6:c.371T>C NP_000544.2:p.Leu124Ser NC_000008.11:31064929:T:C p.(Leu124Ser) NC_000008.11:31064929:T:C p.(Leu124Ser) NC_000008.11:31064929:T:C Identity +NM_016350.5:c.611G>A NP_057434.4:p.Arg204Gln NC_000014.9:50777003:C:T p.(Arg204Gln) NC_000014.9:50777003:C:T p.(Arg204Gln) NC_000014.9:50777003:C:T Identity +NM_001023.4:c.92C>T NP_001014.1:p.Ser31Phe NC_000008.11:56074070:G:A p.(Ser31Phe) NC_000008.11:56074070:G:A p.(Ser31Phe) NC_000008.11:56074070:G:A Identity +NM_005996.4:c.1657G>C NP_005987.3:p.Ala553Pro NC_000012.12:114674217:C:G p.(Ala553Pro) NC_000012.12:114674217:C:G p.(Ala553Pro) NC_000012.12:114674217:C:G Identity +NM_001122608.3:c.606G>C NP_001116080.1:p.Met202Ile NC_000023.11:11120990:G:C p.(Met202Ile) NC_000023.11:11120990:G:C p.(Met202Ile) NC_000023.11:11120990:G:C Identity +NM_001103184.4:c.1622A>T NP_001096654.1:p.Glu541Val NC_000015.10:32969409:T:A p.(Glu541Val) NC_000015.10:32969409:T:A p.(Glu541Val) NC_000015.10:32969409:T:A Identity +NM_001376.5:c.4864G>C NP_001367.2:p.Glu1622Gln NC_000014.9:102002945:G:C p.(Glu1622Gln) NC_000014.9:102002945:G:C p.(Glu1622Gln) NC_000014.9:102002945:G:C Identity +NM_001354705.2:c.988G>A NP_001341634.1:p.Glu330Lys NC_000012.12:57570123:G:A p.(Glu330Lys) NC_000012.12:57570123:G:A p.(Glu330Lys) NC_000012.12:57570123:G:A Identity +NM_003924.4:c.475G>A NP_003915.2:p.Ala159Thr NC_000004.12:41746276:C:T p.(Ala159Thr) NC_000004.12:41746276:C:T p.(Ala159Thr) NC_000004.12:41746276:C:T Identity +NM_021942.6:c.2173del NP_068761.4:p.Arg725fs NC_000004.12:183693079:AAAA:AAA p.(Arg725GlyfsTer16) NC_000004.12:183693079:AAAA:AAA p.(Arg725GlyfsTer16) NC_000004.12:183693082:A: Analogous +NM_001113378.2:c.1222C>T NP_001106849.1:p.Pro408Ser NC_000015.10:89276819:C:T p.(Pro408Ser) NC_000015.10:89276819:C:T p.(Pro408Ser) NC_000015.10:89276819:C:T Identity +NM_001256182.2:c.5736C>A NP_001243111.1:p.Asp1912Glu NC_000016.10:89280805:G:T p.(Asp1912Glu) NC_000016.10:89280805:G:T p.(Asp1912Glu) NC_000016.10:89280805:G:T Identity +NM_001130455.2:c.2399A>G NP_001123927.1:p.Gln800Arg NC_000002.12:71564097:A:G p.(Gln800Arg) NC_000002.12:71564097:A:G p.(Gln800Arg) NC_000002.12:71564097:A:G Identity +NM_001145527.2:c.2324C>G NP_001138999.1:p.Ser775Cys NC_000009.12:137782338:C:G p.(Ser775Cys) NC_000009.12:137782338:C:G p.(Ser775Cys) NC_000009.12:137782338:C:G Identity +NM_001277115.2:c.8215C>G NP_001264044.1:p.Leu2739Val NC_000007.14:21744497:C:G p.(Leu2739Val) NC_000007.14:21744497:C:G p.(Leu2739Val) NC_000007.14:21744497:C:G Identity +NM_000540.3:c.11494C>T NP_000531.2:p.Gln3832Ter NC_000019.10:38535369:C:T p.(Gln3832Ter) NC_000019.10:38535369:C:T p.(Gln3832Ter) NC_000019.10:38535369:C:T Identity +NM_001122670.2:c.2839A>G NP_001116142.1:p.Met947Val NC_000023.11:72603196:T:C p.(Met947Val) NC_000023.11:72603196:T:C p.(Met947Val) NC_000023.11:72603196:T:C Identity +NM_001202470.3:c.98C>T NP_001189399.1:p.Pro33Leu NC_000006.12:34425123:G:A p.(Pro33Leu) NC_000006.12:34425123:G:A p.(Pro33Leu) NC_000006.12:34425123:G:A Identity +NM_016350.5:c.2621A>C NP_057434.4:p.Gln874Pro NC_000014.9:50752707:T:G p.(Gln874Pro) NC_000014.9:50752707:T:G p.(Gln874Pro) NC_000014.9:50752707:T:G Identity +NM_001306193.2:c.240G>T NP_001293122.1:p.Arg80Ser NC_000023.11:132094138:C:A p.(Arg80Ser) NC_000023.11:132094138:C:A p.(Arg80Ser) NC_000023.11:132094138:C:A Identity +NM_001321309.2:c.3274A>G NP_001308238.1:p.Thr1092Ala NC_000003.12:123666247:T:C p.(Thr1092Ala) NC_000003.12:123666247:T:C p.(Thr1092Ala) NC_000003.12:123666247:T:C Identity +NM_005618.4:c.1403C>T NP_005609.3:p.Thr468Ile NC_000006.12:170283875:G:A p.(Thr468Ile) NC_000006.12:170283875:G:A p.(Thr468Ile) NC_000006.12:170283875:G:A Identity +NM_006270.5:c.289T>C NP_006261.1:p.Tyr97His NC_000019.10:49636878:A:G p.(Tyr97His) NC_000019.10:49636878:A:G p.(Tyr97His) NC_000019.10:49636878:A:G Identity +NM_001424119.1:c.416G>A NP_001411048.1:p.Arg139His NC_000006.12:43655583:G:A p.(Arg139His) NC_000006.12:43655583:G:A p.(Arg139His) NC_000006.12:43655583:G:A Identity +NM_001377289.1:c.830G>A NP_001364218.1:p.Gly277Glu NC_000006.12:70255201:C:T p.(Gly277Glu) NC_000006.12:70255201:C:T p.(Gly277Glu) NC_000006.12:70255201:C:T Identity +NM_001129765.2:c.233T>C NP_001123237.1:p.Val78Ala NC_000023.11:152850388:T:C p.(Val78Ala) NC_000023.11:152850388:T:C p.(Val78Ala) NC_000023.11:152850388:T:C Identity +NM_001281428.2:c.139del NP_001268357.1:p.Ala47fs NC_000009.12:34485198:G: p.(Ala47ProfsTer11) NC_000009.12:34485198:G: p.(Ala47ProfsTer11) NC_000009.12:34485198:G: Analogous +NM_006662.3:c.932G>A NP_006653.2:p.Gly311Asp NC_000016.10:30709925:G:A p.(Gly311Asp) NC_000016.10:30709925:G:A p.(Gly311Asp) NC_000016.10:30709925:G:A Identity +NM_016204.4:c.97G>A NP_057288.1:p.Ala33Thr NC_000010.11:47322764:G:A p.(Ala33Thr) NC_000010.11:47322764:G:A p.(Ala33Thr) NC_000010.11:47322764:G:A Identity +NM_003482.4:c.14264C>A NP_003473.3:p.Thr4755Asn NC_000012.12:49028945:G:T p.(Thr4755Asn) NC_000012.12:49028945:G:T p.(Thr4755Asn) NC_000012.12:49028945:G:T Identity +NM_001130144.3:c.3359A>T NP_001123616.1:p.Asp1120Val NC_000011.10:65540038:T:A p.(Asp1120Val) NC_000011.10:65540038:T:A p.(Asp1120Val) NC_000011.10:65540038:T:A Identity +NM_000151.4:c.98T>A NP_000142.2:p.Val33Glu NC_000017.11:42900973:T:A p.(Val33Glu) NC_000017.11:42900973:T:A p.(Val33Glu) NC_000017.11:42900973:T:A Identity +NM_000492.4:c.869A>T NP_000483.3:p.Gln290Leu NC_000007.14:117536672:A:T p.(Gln290Leu) NC_000007.14:117536672:A:T p.(Gln290Leu) NC_000007.14:117536672:A:T Identity +NM_005751.5:c.1201G>T NP_005742.4:p.Val401Phe NC_000007.14:92001117:G:T p.(Val401Phe) NC_000007.14:92001117:G:T p.(Val401Phe) NC_000007.14:92001117:G:T Identity +NM_024529.5:c.187C>G NP_078805.3:p.Leu63Val NC_000001.11:193125166:C:G p.(Leu63Val) NC_000001.11:193125166:C:G p.(Leu63Val) NC_000001.11:193125166:C:G Identity +NM_002470.4:c.892_893insATGA NP_002461.2:p.Leu298fs NC_000017.11:10647187::TCAT p.(Leu298HisfsTer19) NC_000017.11:10647186:A:TCAT p.(Leu298HisfsTer19) NC_000017.11:10647187:AG:TCAT Analogous +NM_016941.4:c.559dup NP_058637.1:p.Cys187fs NC_000019.10:39502963:T:TT p.(Cys187LeufsTer29) NC_000019.10:39502963:T:TT p.(Cys187LeufsTer29) ERR:SPDI Analogous +NM_001385907.1:c.2431T>A NP_001372836.1:p.Cys811Ser NC_000009.12:32459414:A:T p.(Cys811Ser) NC_000009.12:32459414:A:T p.(Cys811Ser) NC_000009.12:32459414:A:T Identity +NM_001320458.2:c.565C>T NP_001307387.1:p.Arg189Trp NC_000017.11:46875330:C:T p.(Arg189Trp) NC_000017.11:46875330:C:T p.(Arg189Trp) NC_000017.11:46875330:C:T Identity +NM_001257374.3:c.61C>G NP_001244303.1:p.Arg21Gly NC_000001.11:156130656:C:G p.(Arg21Gly) NC_000001.11:156130656:C:G p.(Arg21Gly) NC_000001.11:156130656:C:G Identity +NM_000488.4:c.1009C>T NP_000479.1:p.Gln337Ter NC_000001.11:173909695:G:A p.(Gln337Ter) NC_000001.11:173909695:G:A p.(Gln337Ter) NC_000001.11:173909695:G:A Identity +NM_001128844.3:c.2061G>T NP_001122316.1:p.Lys687Asn NC_000019.10:11007960:G:T p.(Lys687Asn) NC_000019.10:11007960:G:T p.(Lys687Asn) NC_000019.10:11007960:G:T Identity +NM_000341.4:c.765G>C NP_000332.2:p.Trp255Cys NC_000002.12:44281540:G:C p.(Trp255Cys) NC_000002.12:44281540:G:C p.(Trp255Cys) NC_000002.12:44281540:G:C Identity +NM_001378454.1:c.3389C>G NP_001365383.1:p.Ala1130Gly NC_000002.12:73449915:C:G p.(Ala1130Gly) NC_000002.12:73449915:C:G p.(Ala1130Gly) NC_000002.12:73449915:C:G Identity +NM_001001890.3:c.1122del NP_001001890.1:p.Ser375fs NC_000021.9:34792374:GGG:GG p.(Ser375ProfsTer192) NC_000021.9:34792374:GGG:GG p.(Ser375ProfsTer192) NC_000021.9:34792374:G: Analogous +NM_000258.3:c.374A>G NP_000249.1:p.Lys125Arg NC_000003.12:46859581:T:C p.(Lys125Arg) NC_000003.12:46859581:T:C p.(Lys125Arg) NC_000003.12:46859581:T:C Identity +NM_006261.5:c.115_116insCCCTGCAGAAGGCACCCTCA NP_006252.4:p.Ser39fs NC_000005.10:177994332:T:TGAGGGTGCCTTCTGCAGGGT p.(Ser39ThrfsTer133) NC_000005.10:177994331:C:TGAGGGTGCCTTCTGCAGGG p.(Ser39ThrfsTer133) NC_000005.10:177994332:CT:TGAGGGTGCCTTCTGCAGGG Analogous +NM_004104.5:c.1768G>A NP_004095.4:p.Ala590Thr NC_000017.11:82090476:C:T p.(Ala590Thr) NC_000017.11:82090476:C:T p.(Ala590Thr) NC_000017.11:82090476:C:T Identity +NM_000076.2:c.623C>T NP_000067.1:p.Pro208Leu NC_000011.10:2884866:G:A p.(Pro208Leu) NC_000011.10:2884866:G:A p.(Pro208Leu) NC_000011.10:2884866:G:A Identity +NM_001411087.1:c.328C>G NP_001398016.1:p.Arg110Gly NC_000019.10:45012108:C:G p.(Arg110Gly) NC_000019.10:45012108:C:G p.(Arg110Gly) NC_000019.10:45012108:C:G Identity +NM_000128.4:c.688T>C NP_000119.1:p.Cys230Arg NC_000004.12:186276322:T:C p.(Cys230Arg) NC_000004.12:186276322:T:C p.(Cys230Arg) NC_000004.12:186276322:T:C Identity +NM_000440.3:c.1010del NP_000431.2:p.Pro337fs NC_000005.10:149907366:GG:G p.(Pro337LeufsTer6) NC_000005.10:149907366:GG:G p.(Pro337LeufsTer6) NC_000005.10:149907366:G: Analogous +NM_001362843.2:c.3650T>A NP_001349772.1:p.Leu1217Gln NC_000022.11:41162778:T:A p.(Leu1217Gln) NC_000022.11:41162778:T:A p.(Leu1217Gln) NC_000022.11:41162778:T:A Identity +NM_000033.4:c.971G>A NP_000024.2:p.Arg324His NC_000023.11:153729301:G:A p.(Arg324His) NC_000023.11:153729301:G:A p.(Arg324His) NC_000023.11:153729301:G:A Identity +NM_018105.3:c.314T>C NP_060575.1:p.Leu105Ser NC_000008.11:42838289:A:G p.(Leu105Ser) NC_000008.11:42838289:A:G p.(Leu105Ser) NC_000008.11:42838289:A:G Identity +NM_000142.5:c.1135_1136delinsCG NP_000133.1:p.Tyr379Arg NC_000004.12:1804388:TA:CG p.(Tyr379Arg) NC_000004.12:1804388:TA:CG p.(Tyr379Arg) NC_000004.12:1804388:TA:CG Identity +NM_000127.3:c.357C>G NP_000118.2:p.Tyr119Ter NC_000008.11:118110689:G:C p.(Tyr119Ter) NC_000008.11:118110689:G:C p.(Tyr119Ter) NC_000008.11:118110689:G:C Identity +NM_000264.5:c.2569del NP_000255.2:p.Asp857fs NC_000009.12:95461989:CC:C p.(Asp857MetfsTer46) NC_000009.12:95461989:CC:C p.(Asp857MetfsTer46) NC_000009.12:95461989:C: Analogous +NM_018105.3:c.247T>C NP_060575.1:p.Cys83Arg NC_000008.11:42839205:A:G p.(Cys83Arg) NC_000008.11:42839205:A:G p.(Cys83Arg) NC_000008.11:42839205:A:G Identity +NM_001204269.2:c.356G>C NP_001191198.1:p.Gly119Ala NC_000001.11:110604426:C:G p.(Gly119Ala) NC_000001.11:110604426:C:G p.(Gly119Ala) NC_000001.11:110604426:C:G Identity +NM_000090.4:c.257C>T NP_000081.2:p.Ala86Val NC_000002.12:188984936:C:T p.(Ala86Val) NC_000002.12:188984936:C:T p.(Ala86Val) NC_000002.12:188984936:C:T Identity +NM_000478.6:c.1016G>A NP_000469.3:p.Gly339Glu NC_000001.11:21575750:G:A p.(Gly339Glu) NC_000001.11:21575750:G:A p.(Gly339Glu) NC_000001.11:21575750:G:A Identity +NM_000429.3:c.65C>T NP_000420.1:p.Ser22Leu NC_000010.11:80289358:G:A p.(Ser22Leu) NC_000010.11:80289358:G:A p.(Ser22Leu) NC_000010.11:80289358:G:A Identity +NM_001256442.2:c.715C>T NP_001243371.1:p.Pro239Ser NC_000016.10:29813768:C:T p.(Pro239Ser) NC_000016.10:29813768:C:T p.(Pro239Ser) NC_000016.10:29813768:C:T Identity +NM_000350.3:c.180del NP_000341.2:p.Met61fs NC_000001.11:94111559:C: p.(Met61CysfsTer17) NC_000001.11:94111559:C: p.(Met61CysfsTer17) NC_000001.11:94111559:C: Analogous +NM_001002294.3:c.209C>T NP_001002294.1:p.Pro70Leu NC_000001.11:171103860:C:T p.(Pro70Leu) NC_000001.11:171103860:C:T p.(Pro70Leu) NC_000001.11:171103860:C:T Identity +NM_206933.4:c.11416G>T NP_996816.3:p.Glu3806Ter NC_000001.11:215743308:C:A p.(Glu3806Ter) NC_000001.11:215743308:C:A p.(Glu3806Ter) NC_000001.11:215743308:C:A Identity +NM_206933.4:c.6925T>C NP_996816.3:p.Cys2309Arg NC_000001.11:215970656:A:G p.(Cys2309Arg) NC_000001.11:215970656:A:G p.(Cys2309Arg) NC_000001.11:215970656:A:G Identity +NM_007123.6:c.3420_3423del NP_009054.6:p.Tyr1141fs NC_000001.11:216200014:GTAAGT:GT p.(Tyr1141ArgfsTer11) NC_000001.11:216200014:GTAAGT:GT p.(Tyr1141ArgfsTer11) NC_000001.11:216200014:GTAA: Analogous +NM_001122681.2:c.296T>A NP_001116153.1:p.Ile99Asn NC_000004.12:2824668:T:A p.(Ile99Asn) NC_000004.12:2824668:T:A p.(Ile99Asn) NC_000004.12:2824668:T:A Identity +NM_000348.4:c.158G>A NP_000339.2:p.Trp53Ter NC_000002.12:31580742:C:T p.(Trp53Ter) NC_000002.12:31580742:C:T p.(Trp53Ter) NC_000002.12:31580742:C:T Identity +NM_001283106.3:c.183del NP_001270035.1:p.Trp61fs NC_000022.11:20052500:GG:G p.(Trp61CysfsTer36) NC_000022.11:20052500:GG:G p.(Trp61CysfsTer36) NC_000022.11:20052501:G: Analogous +NM_000038.6:c.5986_5987del NP_000029.2:p.Gln1996fs NC_000005.10:112841577:CACA:CA p.(Gln1996GlyfsTer5) NC_000005.10:112841577:CACA:CA p.(Gln1996GlyfsTer5) NC_000005.10:112841579:CA: Analogous +NM_000062.3:c.1211C>T NP_000053.2:p.Thr404Met NC_000011.10:57611897:C:T p.(Thr404Met) NC_000011.10:57611897:C:T p.(Thr404Met) NC_000011.10:57611897:C:T Identity +NM_001174089.2:c.2270C>T NP_001167560.1:p.Pro757Leu NC_000020.11:3228629:G:A p.(Pro757Leu) NC_000020.11:3228629:G:A p.(Pro757Leu) NC_000020.11:3228629:G:A Identity +NM_003482.4:c.15290G>A NP_003473.3:p.Arg5097Gln NC_000012.12:49026675:C:T p.(Arg5097Gln) NC_000012.12:49026675:C:T p.(Arg5097Gln) NC_000012.12:49026675:C:T Identity +NM_001130455.2:c.1299G>C NP_001123927.1:p.Lys433Asn NC_000002.12:71535031:G:C p.(Lys433Asn) NC_000002.12:71535031:G:C p.(Lys433Asn) NC_000002.12:71535031:G:C Identity +NM_006516.4:c.727G>T NP_006507.2:p.Glu243Ter NC_000001.11:42929732:C:A p.(Glu243Ter) NC_000001.11:42929732:C:A p.(Glu243Ter) NC_000001.11:42929732:C:A Identity +NM_001363823.2:c.779C>G NP_001350752.1:p.Ser260Ter NC_000002.12:32114736:C:G p.(Ser260Ter) NC_000002.12:32114736:C:G p.(Ser260Ter) NC_000002.12:32114736:C:G Identity +NM_000060.4:c.289G>A NP_000051.1:p.Val97Met NC_000003.12:15635667:G:A ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_000313.4:c.268C>T NP_000304.2:p.Arg90Cys NC_000003.12:93910696:G:A p.(Arg90Cys) NC_000003.12:93910696:G:A p.(Arg90Cys) NC_000003.12:93910696:G:A Identity +NM_015384.5:c.6430C>T NP_056199.2:p.Leu2144Phe NC_000005.10:37045528:C:T p.(Leu2144Phe) NC_000005.10:37045528:C:T p.(Leu2144Phe) NC_000005.10:37045528:C:T Identity +NM_004004.6:c.93del NP_003995.2:p.Arg32fs NC_000013.11:20189488:AAAAA:AAAA p.(Arg32AlafsTer3) NC_000013.11:20189488:AAAAA:AAAA p.(Arg32AlafsTer3) NC_000013.11:20189488:A: Analogous +NM_001322902.2:c.568A>G NP_001309831.1:p.Thr190Ala NC_000020.11:10306143:A:G p.(Thr190Ala) NC_000020.11:10306143:A:G p.(Thr190Ala) NC_000020.11:10306143:A:G Identity +NM_001039476.3:c.890del NP_001034565.1:p.Ser297fs NC_000016.10:88814:G: p.(Ser297CysfsTer3) NC_000016.10:88814:G: p.(Ser297CysfsTer3) NC_000016.10:88814:G: Analogous +NM_001352600.2:c.1870C>T NP_001339529.1:p.Gln624Ter NC_000013.11:108209398:G:A p.(Gln624Ter) NC_000013.11:108209398:G:A p.(Gln624Ter) NC_000013.11:108209398:G:A Identity +NM_016239.4:c.9571C>G NP_057323.3:p.Arg3191Gly NC_000017.11:18162637:C:G p.(Arg3191Gly) NC_000017.11:18162637:C:G p.(Arg3191Gly) NC_000017.11:18162637:C:G Identity +NM_001197104.2:c.6051G>C NP_001184033.1:p.Leu2017Phe NC_000011.10:118499391:G:C p.(Leu2017Phe) NC_000011.10:118499391:G:C p.(Leu2017Phe) NC_000011.10:118499391:G:C Identity +NM_000152.5:c.1694_1697del NP_000143.2:p.Leu565fs NC_000017.11:80112037:TCTCTC:TC p.(Leu565ProfsTer12) NC_000017.11:80112037:TCTCTC:TC p.(Leu565ProfsTer12) NC_000017.11:80112039:TCTC: Analogous +NM_001424108.1:c.1822C>T NP_001411037.1:p.Pro608Ser NC_000006.12:33177194:G:A p.(Pro608Ser) NC_000006.12:33177194:G:A p.(Pro608Ser) NC_000006.12:33177194:G:A Identity +NM_000301.5:c.1468C>T NP_000292.1:p.Arg490Ter NC_000006.12:160731773:C:T p.(Arg490Ter) NC_000006.12:160731773:C:T p.(Arg490Ter) NC_000006.12:160731773:C:T Identity +NM_000162.5:c.1235T>C NP_000153.1:p.Val412Ala NC_000007.14:44145514:A:G p.(Val412Ala) NC_000007.14:44145514:A:G p.(Val412Ala) NC_000007.14:44145514:A:G Identity +NM_000238.4:c.2353G>A NP_000229.1:p.Gly785Ser NC_000007.14:150950212:C:T p.(Gly785Ser) NC_000007.14:150950212:C:T p.(Gly785Ser) NC_000007.14:150950212:C:T Identity +NM_006208.3:c.2031C>G NP_006199.2:p.His677Gln NC_000006.12:131879964:C:G p.(His677Gln) NC_000006.12:131879964:C:G p.(His677Gln) NC_000006.12:131879964:C:G Identity +NM_001277115.2:c.8045T>G NP_001264044.1:p.Leu2682Trp NC_000007.14:21742056:T:G p.(Leu2682Trp) NC_000007.14:21742056:T:G p.(Leu2682Trp) NC_000007.14:21742056:T:G Identity +NM_030665.4:c.232T>C NP_109590.3:p.Tyr78His NC_000017.11:17793179:T:C p.(Tyr78His) NC_000017.11:17793179:T:C p.(Tyr78His) NC_000017.11:17793179:T:C Identity +NM_000177.5:c.1717G>A NP_000168.1:p.Ala573Thr NC_000009.12:121326658:G:A p.(Ala573Thr) NC_000009.12:121326658:G:A p.(Ala573Thr) NC_000009.12:121326658:G:A Identity +NM_001127244.2:c.1171dup NP_001120716.1:p.Ala391fs NC_000009.12:128908334:G:GG p.(Ala391GlyfsTer9) NC_000009.12:128908334:G:GG p.(Ala391GlyfsTer9) ERR:SPDI Analogous +NM_001362843.2:c.5132G>A NP_001349772.1:p.Arg1711His NC_000022.11:41176920:G:A p.(Arg1711His) NC_000022.11:41176920:G:A p.(Arg1711His) NC_000022.11:41176920:G:A Identity +NM_001079821.3:c.2488C>G NP_001073289.2:p.Leu830Val NC_000001.11:247434268:C:G p.(Leu830Val) NC_000001.11:247434268:C:G p.(Leu830Val) NC_000001.11:247434268:C:G Identity +NM_000142.5:c.692A>G NP_000133.1:p.Glu231Gly NC_000004.12:1801695:A:G p.(Glu231Gly) NC_000004.12:1801695:A:G p.(Glu231Gly) NC_000004.12:1801695:A:G Identity +NM_006766.5:c.5961G>A NP_006757.2:p.Met1987Ile NC_000008.11:41932258:C:T p.(Met1987Ile) NC_000008.11:41932258:C:T p.(Met1987Ile) NC_000008.11:41932258:C:T Identity +NM_001287758.2:c.2859_2860inv NP_001274687.1:p.Ala954Thr NC_000023.11:108175674:CA:TG p.(Ala954Thr) NC_000023.11:108175674:CA:TG p.(Ala954Thr) ERR:SPDI Identity +NM_020435.4:c.69_82dup NP_065168.2:p.Leu28fs NC_000001.11:228157826:GGGCAAGGTGTGGC:GGGCAAGGTGTGGCGGGCAAGGTGTGGC p.(Leu28ArgfsTer16) NC_000001.11:228157826:GGGCAAGGTGTGGC:GGGCAAGGTGTGGCGGGCAAGGTGTGGC p.(Leu28ArgfsTer16) ERR:SPDI Analogous +NM_012327.6:c.2576G>C NP_036459.1:p.Ser859Thr NC_000018.10:62082672:C:G p.(Ser859Thr) NC_000018.10:62082672:C:G p.(Ser859Thr) NC_000018.10:62082672:C:G Identity +NM_000127.3:c.1767dup NP_000118.2:p.Val590fs NC_000008.11:117807332:AA:AAA p.(Val590CysfsTer12) NC_000008.11:117807332:AA:AAA p.(Val590CysfsTer12) ERR:SPDI Analogous +NM_000487.6:c.629T>C NP_000478.3:p.Leu210Pro NC_000022.11:50626888:A:G p.(Leu210Pro) NC_000022.11:50626888:A:G p.(Leu210Pro) NC_000022.11:50626888:A:G Identity +NM_000061.3:c.1780G>C NP_000052.1:p.Gly594Arg NC_000023.11:101353321:C:G p.(Gly594Arg) NC_000023.11:101353321:C:G p.(Gly594Arg) NC_000023.11:101353321:C:G Identity +NM_001035.3:c.9457T>C NP_001026.2:p.Ser3153Pro NC_000001.11:237705219:T:C p.(Ser3153Pro) NC_000001.11:237705219:T:C p.(Ser3153Pro) NC_000001.11:237705219:T:C Identity +NM_001308133.2:c.913A>G NP_001295062.1:p.Lys305Glu NC_000014.9:45151468:A:G p.(Lys305Glu) NC_000014.9:45151468:A:G p.(Lys305Glu) NC_000014.9:45151468:A:G Identity +NM_173500.4:c.1157T>G NP_775771.3:p.Met386Arg NC_000015.10:42783458:A:C p.(Met386Arg) NC_000015.10:42783458:A:C p.(Met386Arg) NC_000015.10:42783458:A:C Identity +NM_001005373.4:c.578G>A NP_001005373.1:p.Cys193Tyr NC_000009.12:127467788:G:A p.(Cys193Tyr) NC_000009.12:127467788:G:A p.(Cys193Tyr) NC_000009.12:127467788:G:A Identity +NM_001413017.1:c.1082G>A NP_001399946.1:p.Gly361Asp NC_000008.11:144515843:C:T p.(Gly361Asp) NC_000008.11:144515843:C:T p.(Gly361Asp) NC_000008.11:144515843:C:T Identity +NM_000109.4:c.4186G>C NP_000100.3:p.Ala1396Pro NC_000023.11:32411774:C:G p.(Ala1396Pro) NC_000023.11:32411774:C:G p.(Ala1396Pro) NC_000023.11:32411774:C:G Identity +NM_001134830.2:c.1526T>A NP_001128302.1:p.Leu509Ter NC_000006.12:135448389:A:T p.(Leu509Ter) NC_000006.12:135448389:A:T p.(Leu509Ter) NC_000006.12:135448389:A:T Identity +NM_000548.5:c.4908C>A NP_000539.2:p.Asp1636Glu NC_000016.10:2086789:C:A p.(Asp1636Glu) NC_000016.10:2086789:C:A p.(Asp1636Glu) NC_000016.10:2086789:C:A Identity +NM_138924.3:c.581C>T NP_620279.1:p.Pro194Leu NC_000019.10:1398904:G:A p.(Pro194Leu) NC_000019.10:1398904:G:A p.(Pro194Leu) NC_000019.10:1398904:G:A Identity +NM_020433.5:c.296G>A NP_065166.2:p.Ser99Asn NC_000020.11:44186409:C:T p.(Ser99Asn) NC_000020.11:44186409:C:T p.(Ser99Asn) NC_000020.11:44186409:C:T Identity +NM_024700.4:c.277C>T NP_078976.2:p.Arg93Cys NC_000001.11:37552694:G:A p.(Arg93Cys) NC_000001.11:37552694:G:A p.(Arg93Cys) NC_000001.11:37552694:G:A Identity +NM_001365999.1:c.9577G>A NP_001352928.1:p.Val3193Met NC_000001.11:43448091:G:A p.(Val3193Met) NC_000001.11:43448091:G:A p.(Val3193Met) NC_000001.11:43448091:G:A Identity +NM_000832.7:c.2269G>C NP_000823.4:p.Gly757Arg NC_000009.12:137163265:G:C p.(Gly757Arg) NC_000009.12:137163265:G:C p.(Gly757Arg) NC_000009.12:137163265:G:C Identity +NM_000352.6:c.2585_2588del NP_000343.2:p.His862fs NC_000011.10:17410621:AGAT: p.(His862ArgfsTer5) NC_000011.10:17410621:AGAT: p.(His862ArgfsTer5) NC_000011.10:17410621:AGAT: Analogous +NM_000352.6:c.80T>C NP_000343.2:p.Phe27Ser NC_000011.10:17476696:A:G p.(Phe27Ser) NC_000011.10:17476696:A:G p.(Phe27Ser) NC_000011.10:17476696:A:G Identity +NM_000062.3:c.462C>G NP_000053.2:p.Tyr154Ter NC_000011.10:57600288:C:G p.(Tyr154Ter) NC_000011.10:57600288:C:G p.(Tyr154Ter) NC_000011.10:57600288:C:G Identity +NM_001297571.2:c.124C>T NP_001284500.1:p.Arg42Ter NC_000012.12:6842996:C:T p.(Arg42Ter) NC_000012.12:6842996:C:T p.(Arg42Ter) NC_000012.12:6842996:C:T Identity +NM_001370528.1:c.1376G>T NP_001357457.1:p.Gly459Val NC_000003.12:64147113:C:A p.(Gly459Val) NC_000003.12:64147113:C:A p.(Gly459Val) NC_000003.12:64147113:C:A Identity +NM_000321.3:c.2447C>G NP_000312.2:p.Ser816Ter NC_000013.11:48465325:C:G p.(Ser816Ter) NC_000013.11:48465325:C:G p.(Ser816Ter) NC_000013.11:48465325:C:G Identity +NM_000282.4:c.2125T>C NP_000273.2:p.Ser709Pro NC_000013.11:100530103:T:C p.(Ser709Pro) NC_000013.11:100530103:T:C p.(Ser709Pro) NC_000013.11:100530103:T:C Identity +NM_001425212.1:c.446T>G NP_001412141.1:p.Leu149Arg NC_000014.9:50294208:A:C p.(Leu149Arg) NC_000014.9:50294208:A:C p.(Leu149Arg) NC_000014.9:50294208:A:C Identity +NM_000520.6:c.1363G>A NP_000511.2:p.Gly455Arg NC_000015.10:72346292:C:T p.(Gly455Arg) NC_000015.10:72346292:C:T p.(Gly455Arg) NC_000015.10:72346292:C:T Identity +NM_000339.3:c.2572C>T NP_000330.3:p.Leu858Phe NC_000016.10:56894553:C:T p.(Leu858Phe) NC_000016.10:56894553:C:T p.(Leu858Phe) NC_000016.10:56894553:C:T Identity +NM_001164098.2:c.1346A>G NP_001157570.1:p.Lys449Arg NC_000005.10:83519651:A:G p.(Lys449Arg) NC_000005.10:83519651:A:G p.(Lys449Arg) NC_000005.10:83519651:A:G Identity +NM_000632.4:c.1039G>C NP_000623.2:p.Glu347Gln NC_000016.10:31276699:G:C p.(Glu347Gln) NC_000016.10:31276699:G:C p.(Glu347Gln) NC_000016.10:31276699:G:C Identity +NM_001077653.2:c.1254G>A NP_001071121.1:p.Met418Ile NC_000007.14:35202519:C:T p.(Met418Ile) NC_000007.14:35202519:C:T p.(Met418Ile) NC_000007.14:35202519:C:T Identity +NM_199242.3:c.2719_2722dup NP_954712.1:p.Ser908fs NC_000017.11:75830469:AGGT:AGGTAGGT p.(Ser908TyrfsTer3) NC_000017.11:75830469:AGGT:AGGTAGGT p.(Ser908TyrfsTer3) ERR:SPDI Analogous +NM_001256317.3:c.1028G>T NP_001243246.1:p.Trp343Leu NC_000021.9:42380136:C:A p.(Trp343Leu) NC_000021.9:42380136:C:A p.(Trp343Leu) NC_000021.9:42380136:C:A Identity +NM_000444.6:c.735T>G NP_000435.3:p.Tyr245Ter NC_000023.11:22093984:T:G p.(Tyr245Ter) NC_000023.11:22093984:T:G p.(Tyr245Ter) NC_000023.11:22093984:T:G Identity +NM_001374385.1:c.3069_3070del NP_001361314.1:p.Asp1025fs NC_000018.10:57652674:TTT:T p.(Asp1025LeufsTer6) NC_000018.10:57652674:TTT:T p.(Asp1025LeufsTer6) NC_000018.10:57652674:TT: Analogous +NM_001127396.3:c.1245_1248del NP_001120868.1:p.Ser415fs NC_000019.10:7645198:GTGAGTGAG:GTGAG p.(Ser415ArgfsTer7) NC_000019.10:7645198:GTGAGTGAG:GTGAG p.(Ser415ArgfsTer7) NC_000019.10:7645203:TGAG: Analogous +NM_000453.3:c.371G>A NP_000444.1:p.Arg124His NC_000019.10:17874150:G:A p.(Arg124His) NC_000019.10:17874150:G:A p.(Arg124His) NC_000019.10:17874150:G:A Identity +NM_001031696.4:c.1276A>G NP_001026866.1:p.Thr426Ala NC_000019.10:40377875:A:G p.(Thr426Ala) NC_000019.10:40377875:A:G p.(Thr426Ala) NC_000019.10:40377875:A:G Identity +NM_021629.4:c.58G>C NP_067642.1:p.Asp20His NC_000003.12:179420926:C:G p.(Asp20His) NC_000003.12:179420926:C:G p.(Asp20His) NC_000003.12:179420926:C:G Identity +NM_001278196.2:c.578G>A NP_001265125.1:p.Gly193Asp NC_000001.11:244054378:G:A p.(Gly193Asp) NC_000001.11:244054378:G:A p.(Gly193Asp) NC_000001.11:244054378:G:A Identity +NM_001282948.2:c.6259G>A NP_001269877.1:p.Asp2087Asn NC_000010.11:63185587:C:T p.(Asp2087Asn) NC_000010.11:63185587:C:T p.(Asp2087Asn) NC_000010.11:63185587:C:T Identity +NM_000273.3:c.933C>A NP_000264.2:p.Tyr311Ter NC_000023.11:9739671:G:T p.(Tyr311Ter) NC_000023.11:9739671:G:T p.(Tyr311Ter) NC_000023.11:9739671:G:T Identity +NM_000081.4:c.8668_8669dup NP_000072.2:p.Thr2891fs NC_000001.11:235733634:ATAT:ATATAT p.(Thr2891SerfsTer16) NC_000001.11:235733634:ATAT:ATATAT p.(Thr2891SerfsTer16) ERR:SPDI Analogous +NM_000335.5:c.1810C>G NP_000326.2:p.Leu604Val NC_000003.12:38603791:G:C p.(Leu604Val) NC_000003.12:38603791:G:C p.(Leu604Val) NC_000003.12:38603791:G:C Identity +NM_001031737.3:c.791C>T NP_001026907.2:p.Ala264Val NC_000016.10:724483:G:A p.(Ala264Val) NC_000016.10:724483:G:A p.(Ala264Val) NC_000016.10:724483:G:A Identity +NM_001256849.1:c.1738G>A NP_001243778.1:p.Asp580Asn NC_000019.10:50407377:G:A p.(Asp580Asn) NC_000019.10:50407377:G:A p.(Asp580Asn) NC_000019.10:50407377:G:A Identity +NM_000033.4:c.428C>T NP_000024.2:p.Pro143Leu NC_000023.11:153725693:C:T p.(Pro143Leu) NC_000023.11:153725693:C:T p.(Pro143Leu) NC_000023.11:153725693:C:T Identity +NM_000117.3:c.256C>T NP_000108.1:p.Gln86Ter NC_000023.11:154380009:C:T p.(Gln86Ter) NC_000023.11:154380009:C:T p.(Gln86Ter) NC_000023.11:154380009:C:T Identity +NM_001271.4:c.4915dup NP_001262.3:p.Asp1639fs NC_000015.10:93020019:G:GG p.(Asp1639GlyfsTer28) NC_000015.10:93020019:G:GG p.(Asp1639GlyfsTer28) ERR:SPDI Analogous +NM_003106.4:c.694A>G NP_003097.1:p.Thr232Ala NC_000003.12:181713053:A:G p.(Thr232Ala) NC_000003.12:181713053:A:G p.(Thr232Ala) NC_000003.12:181713053:A:G Identity +NM_001146158.2:c.701G>A NP_001139630.1:p.Ser234Asn NC_000002.12:74462769:C:T p.(Ser234Asn) NC_000002.12:74462769:C:T p.(Ser234Asn) NC_000002.12:74462769:C:T Identity +NM_001165966.2:c.2762C>A NP_001159438.1:p.Pro921Gln NC_000017.11:6455392:G:T p.(Pro921Gln) NC_000017.11:6455392:G:T p.(Pro921Gln) NC_000017.11:6455392:G:T Identity +NM_001142800.2:c.2390G>A NP_001136272.1:p.Cys797Tyr NC_000006.12:64912734:C:T p.(Cys797Tyr) NC_000006.12:64912734:C:T p.(Cys797Tyr) NC_000006.12:64912734:C:T Identity +NM_001321961.2:c.98T>C NP_001308890.1:p.Ile33Thr NC_000008.11:132661539:A:G p.(Ile33Thr) NC_000008.11:132661539:A:G p.(Ile33Thr) NC_000008.11:132661539:A:G Identity +NM_015346.4:c.1488_1491del NP_056161.2:p.Leu497fs NC_000014.9:67802226:GAGTG:G p.(Leu497ThrfsTer7) NC_000014.9:67802226:GAGTG:G p.(Leu497ThrfsTer7) NC_000014.9:67802226:GAGT: Analogous +NM_001080512.3:c.2507G>T NP_001073981.1:p.Ser836Ile NC_000010.11:58813959:G:T p.(Ser836Ile) NC_000010.11:58813959:G:T p.(Ser836Ile) NC_000010.11:58813959:G:T Identity +NM_001320269.2:c.382C>T NP_001307198.1:p.Arg128Trp NC_000001.11:62266784:G:A p.(Arg128Trp) NC_000001.11:62266784:G:A p.(Arg128Trp) NC_000001.11:62266784:G:A Identity +NM_001330588.2:c.419C>T NP_001317517.1:p.Pro140Leu NC_000013.11:102616423:C:T p.(Pro140Leu) NC_000013.11:102616423:C:T p.(Pro140Leu) NC_000013.11:102616423:C:T Identity +NM_001321309.2:c.3280A>T NP_001308238.1:p.Thr1094Ser NC_000003.12:123666241:T:A p.(Thr1094Ser) NC_000003.12:123666241:T:A p.(Thr1094Ser) NC_000003.12:123666241:T:A Identity +NM_014484.5:c.11G>A NP_055299.1:p.Arg4Gln NC_000020.11:50958852:G:A p.(Arg4Gln) NC_000020.11:50958852:G:A p.(Arg4Gln) NC_000020.11:50958852:G:A Identity +NM_001278055.2:c.12422C>T NP_001264984.1:p.Thr4141Ile NC_000013.11:23331012:G:A p.(Thr4141Ile) NC_000013.11:23331012:G:A p.(Thr4141Ile) NC_000013.11:23331012:G:A Identity +NM_001165963.4:c.1567T>C NP_001159435.1:p.Ser523Pro NC_000002.12:166045137:A:G p.(Ser523Pro) NC_000002.12:166045137:A:G p.(Ser523Pro) NC_000002.12:166045137:A:G Identity +NM_001013406.2:c.728G>A NP_001013424.1:p.Arg243Gln NC_000007.14:92235403:C:T p.(Arg243Gln) NC_000007.14:92235403:C:T p.(Arg243Gln) NC_000007.14:92235403:C:T Identity +NM_001353765.2:c.888G>C NP_001340694.1:p.Gln296His NC_000002.12:29196841:C:G p.(Gln296His) NC_000002.12:29196841:C:G p.(Gln296His) NC_000002.12:29196841:C:G Identity +NM_001320923.2:c.1525C>G NP_001307852.1:p.Leu509Val NC_000001.11:64855631:G:C p.(Leu509Val) NC_000001.11:64855631:G:C p.(Leu509Val) NC_000001.11:64855631:G:C Identity +NM_004104.5:c.5545A>G NP_004095.4:p.Ile1849Val NC_000017.11:82083221:T:C p.(Ile1849Val) NC_000017.11:82083221:T:C p.(Ile1849Val) NC_000017.11:82083221:T:C Identity +NM_006766.5:c.5206C>T NP_006757.2:p.Pro1736Ser NC_000008.11:41933013:G:A p.(Pro1736Ser) NC_000008.11:41933013:G:A p.(Pro1736Ser) NC_000008.11:41933013:G:A Identity +NM_001042494.2:c.545T>G NP_001035959.1:p.Ile182Ser NC_000015.10:34256251:A:C p.(Ile182Ser) NC_000015.10:34256251:A:C p.(Ile182Ser) NC_000015.10:34256251:A:C Identity +NM_001136029.4:c.3982C>T NP_001129501.1:p.Arg1328Trp NC_000022.11:31879727:C:T p.(Arg1328Trp) NC_000022.11:31879727:C:T p.(Arg1328Trp) NC_000022.11:31879727:C:T Identity +NM_000484.4:c.305G>A NP_000475.1:p.Arg102His NC_000021.9:26089992:C:T p.(Arg102His) NC_000021.9:26089992:C:T p.(Arg102His) NC_000021.9:26089992:C:T Identity +NM_001077493.1:c.364G>A NP_001070961.1:p.Val122Ile NC_000010.11:102397023:G:A ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_001035.3:c.12980T>A NP_001026.2:p.Val4327Asp NC_000001.11:237784691:T:A p.(Val4327Asp) NC_000001.11:237784691:T:A p.(Val4327Asp) NC_000001.11:237784691:T:A Identity +NM_001377260.1:c.683C>G NP_001364189.1:p.Ala228Gly NC_000001.11:231421205:G:C p.(Ala228Gly) NC_000001.11:231421205:G:C p.(Ala228Gly) NC_000001.11:231421205:G:C Identity +NM_000287.4:c.1586_1587dup NP_000278.3:p.Ala530fs NC_000006.12:42968390:TGTG:TGTGTG p.(Ala530GlnfsTer19) NC_000006.12:42968390:TGTG:TGTGTG p.(Ala530GlnfsTer19) ERR:SPDI Analogous +NM_001013406.2:c.1117A>T NP_001013424.1:p.Lys373Ter NC_000007.14:92222971:T:A p.(Lys373Ter) NC_000007.14:92222971:T:A p.(Lys373Ter) NC_000007.14:92222971:T:A Identity +NM_004304.5:c.257_263dup NP_004295.2:p.Ser90fs NC_000002.12:29920396:CGGGCCTCGGGCCT:CGGGCCTCGGGCCTCGGGCCT p.(Ser90ProfsTer138) NC_000002.12:29920396:CGGGCCTCGGGCCT:CGGGCCTCGGGCCTCGGGCCT p.(Ser90ProfsTer138) ERR:SPDI Analogous +NM_001077653.2:c.1282G>C NP_001071121.1:p.Gly428Arg NC_000007.14:35202491:C:G p.(Gly428Arg) NC_000007.14:35202491:C:G p.(Gly428Arg) NC_000007.14:35202491:C:G Identity +LRG_402t1:c.682C>G LRG_402p1:p.Leu228Val NC_000001.11:237388091:C:G ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_001605.3:c.377T>C NP_001596.2:p.Phe126Ser NC_000016.10:70276587:A:G p.(Phe126Ser) NC_000016.10:70276587:A:G p.(Phe126Ser) NC_000016.10:70276587:A:G Identity +NM_001290307.3:c.1452G>C NP_001277236.1:p.Met484Ile NC_000005.10:138917803:G:C p.(Met484Ile) NC_000005.10:138917803:G:C p.(Met484Ile) NC_000005.10:138917803:G:C Identity +NM_000747.3:c.271G>A NP_000738.2:p.Asp91Asn NC_000017.11:7446859:G:A p.(Asp91Asn) NC_000017.11:7446859:G:A p.(Asp91Asn) NC_000017.11:7446859:G:A Identity +NM_001206927.2:c.12511A>T NP_001193856.1:p.Met4171Leu NC_000006.12:38971650:A:T p.(Met4171Leu) NC_000006.12:38971650:A:T p.(Met4171Leu) NC_000006.12:38971650:A:T Identity +NM_001278055.2:c.9953T>G NP_001264984.1:p.Val3318Gly NC_000013.11:23333481:A:C p.(Val3318Gly) NC_000013.11:23333481:A:C p.(Val3318Gly) NC_000013.11:23333481:A:C Identity +NM_001410858.1:c.3148C>T NP_001397787.1:p.Gln1050Ter NC_000018.10:45917769:G:A p.(Gln1050Ter) NC_000018.10:45917769:G:A p.(Gln1050Ter) NC_000018.10:45917769:G:A Identity +NM_001127218.3:c.724A>C NP_001120690.1:p.Ile242Leu NC_000007.14:44116872:T:G p.(Ile242Leu) NC_000007.14:44116872:T:G p.(Ile242Leu) NC_000007.14:44116872:T:G Identity +NM_001277115.2:c.9364T>C NP_001264044.1:p.Ser3122Pro NC_000007.14:21778984:T:C p.(Ser3122Pro) NC_000007.14:21778984:T:C p.(Ser3122Pro) NC_000007.14:21778984:T:C Identity +NM_005027.4:c.103C>T NP_005018.2:p.Arg35Trp NC_000019.10:18155981:C:T p.(Arg35Trp) NC_000019.10:18155981:C:T p.(Arg35Trp) NC_000019.10:18155981:C:T Identity +NM_002547.3:c.2275C>G NP_002538.1:p.Pro759Ala NC_000023.11:68053693:G:C p.(Pro759Ala) NC_000023.11:68053693:G:C p.(Pro759Ala) NC_000023.11:68053693:G:C Identity +NM_001313726.2:c.1008G>C NP_001300655.1:p.Glu336Asp NC_000011.10:26531291:G:C p.(Glu336Asp) NC_000011.10:26531291:G:C p.(Glu336Asp) NC_000011.10:26531291:G:C Identity +NM_001277115.2:c.8926C>T NP_001264044.1:p.Arg2976Ter NC_000007.14:21750349:C:T p.(Arg2976Ter) NC_000007.14:21750349:C:T p.(Arg2976Ter) NC_000007.14:21750349:C:T Identity +NM_001034853.2:c.2086C>G NP_001030025.1:p.Leu696Val NC_000023.11:38286912:G:C p.(Leu696Val) NC_000023.11:38286912:G:C p.(Leu696Val) NC_000023.11:38286912:G:C Identity +NM_001353229.2:c.272G>A NP_001340158.1:p.Gly91Glu NC_000017.11:17226299:C:T p.(Gly91Glu) NC_000017.11:17226299:C:T p.(Gly91Glu) NC_000017.11:17226299:C:T Identity +NM_000053.4:c.4373del NP_000044.2:p.Gly1458fs NC_000013.11:51934780:CC:C p.(Gly1458AlafsTer27) NC_000013.11:51934780:CC:C p.(Gly1458AlafsTer27) NC_000013.11:51934780:C: Analogous +NM_001127384.3:c.25T>G NP_001120856.1:p.Leu9Val NC_000010.11:67647488:A:C p.(Leu9Val) NC_000010.11:67647488:A:C p.(Leu9Val) NC_000010.11:67647488:A:C Identity +NM_001127493.3:c.5180G>T NP_001120965.1:p.Gly1727Val NC_000004.12:113369656:G:T p.(Gly1727Val) NC_000004.12:113369656:G:T p.(Gly1727Val) NC_000004.12:113369656:G:T Identity +NM_017780.4:c.4385A>G NP_060250.2:p.Asp1462Gly NC_000008.11:60838106:A:G p.(Asp1462Gly) NC_000008.11:60838106:A:G p.(Asp1462Gly) NC_000008.11:60838106:A:G Identity +NM_002439.5:c.2136A>G NP_002430.3:p.Ile712Met NC_000005.10:80768885:A:G p.(Ile712Met) NC_000005.10:80768885:A:G p.(Ile712Met) NC_000005.10:80768885:A:G Identity +NM_206933.4:c.10691C>G NP_996816.3:p.Ser3564Ter NC_000001.11:215782090:G:C p.(Ser3564Ter) NC_000001.11:215782090:G:C p.(Ser3564Ter) NC_000001.11:215782090:G:C Identity +NM_016222.4:c.337G>A NP_057306.2:p.Glu113Lys NC_000005.10:177516154:C:T p.(Glu113Lys) NC_000005.10:177516154:C:T p.(Glu113Lys) NC_000005.10:177516154:C:T Identity +NM_001378454.1:c.4035_4047del NP_001365383.1:p.Gln1345fs NC_000002.12:73450558:CCAACAGGTCTTGCCA:CCA p.(Gln1345HisfsTer10) NC_000002.12:73450558:CCAACAGGTCTTGCCA:CCA p.(Gln1345HisfsTer10) NC_000002.12:73450561:ACAGGTCTTGCCA: Analogous +NM_172364.5:c.1471T>C NP_758952.4:p.Tyr491His NC_000012.12:1882880:A:G p.(Tyr491His) NC_000012.12:1882880:A:G p.(Tyr491His) NC_000012.12:1882880:A:G Identity +NM_152424.4:c.943del NP_689637.3:p.Asp315fs NC_000023.11:64192343:CCCC:CCC p.(Asp315MetfsTer2) NC_000023.11:64192343:CCCC:CCC p.(Asp315MetfsTer2) NC_000023.11:64192343:C: Analogous +NM_000256.3:c.1099AAG[1] NP_000247.2:p.Lys368del NC_000011.10:47343610:CTTCTTCT:CTTCT p.(Lys368del) NC_000011.10:47343615:T:CTT ERR:Parse ERR:Parse Identity +NM_001378120.1:c.76C>T NP_001365049.1:p.Gln26Ter NC_000002.12:148458833:C:T p.(Gln26Ter) NC_000002.12:148458833:C:T p.(Gln26Ter) NC_000002.12:148458833:C:T Identity +NM_001184900.3:c.878G>T NP_001171829.1:p.Ser293Ile NC_000019.10:48230594:C:A p.(Ser293Ile) NC_000019.10:48230594:C:A p.(Ser293Ile) NC_000019.10:48230594:C:A Identity +NM_001098209.2:c.2243A>G NP_001091679.1:p.Tyr748Cys NC_000003.12:41239238:A:G p.(Tyr748Cys) NC_000003.12:41239238:A:G p.(Tyr748Cys) NC_000003.12:41239238:A:G Identity +NM_000323.2:c.3281G>T NP_000314.1:p.Ser1094Ile NC_000010.11:43128204:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001256399.2:c.85T>G NP_001243328.1:p.Leu29Val NC_000001.11:43365337:A:C p.(Leu29Val) NC_000001.11:43365337:A:C p.(Leu29Val) NC_000001.11:43365337:A:C Identity +NM_017890.5:c.10347T>A NP_060360.3:p.Cys3449Ter NC_000008.11:99853660:T:A p.(Cys3449Ter) NC_000008.11:99853660:T:A p.(Cys3449Ter) NC_000008.11:99853660:T:A Identity +NM_000204.5:c.310G>T NP_000195.3:p.Gly104Ter NC_000004.12:109766571:C:A p.(Gly104Ter) NC_000004.12:109766571:C:A p.(Gly104Ter) NC_000004.12:109766571:C:A Identity +NM_001130438.3:c.1087C>G NP_001123910.1:p.Leu363Val NC_000009.12:128578110:C:G p.(Leu363Val) NC_000009.12:128578110:C:G p.(Leu363Val) NC_000009.12:128578110:C:G Identity +NM_003764.4:c.127_133del NP_003755.2:p.Ser43fs NC_000006.12:144186753:TCCCTGT: p.(Ser43ThrfsTer18) NC_000006.12:144186753:TCCCTGT: p.(Ser43ThrfsTer18) NC_000006.12:144186753:TCCCTGT: Analogous +NM_001407296.1:c.1142G>A NP_001394225.1:p.Gly381Asp NC_000016.10:23635343:C:T p.(Gly381Asp) NC_000016.10:23635343:C:T p.(Gly381Asp) NC_000016.10:23635343:C:T Identity +NM_001177984.3:c.3206G>T NP_001171455.1:p.Gly1069Val NC_000012.12:51769168:G:T p.(Gly1069Val) NC_000012.12:51769168:G:T p.(Gly1069Val) NC_000012.12:51769168:G:T Identity +NM_001256213.2:c.1501G>A NP_001243142.1:p.Asp501Asn NC_000019.10:41978767:C:T p.(Asp501Asn) NC_000019.10:41978767:C:T p.(Asp501Asn) NC_000019.10:41978767:C:T Identity +NM_001277115.2:c.4142C>A NP_001264044.1:p.Thr1381Lys NC_000007.14:21617664:C:A p.(Thr1381Lys) NC_000007.14:21617664:C:A p.(Thr1381Lys) NC_000007.14:21617664:C:A Identity +NM_001077653.2:c.368C>T NP_001071121.1:p.Thr123Ile NC_000007.14:35249962:G:A p.(Thr123Ile) NC_000007.14:35249962:G:A p.(Thr123Ile) NC_000007.14:35249962:G:A Identity +NM_001114978.2:c.874C>G NP_001108450.1:p.Pro292Ala NC_000003.12:189866788:C:G p.(Pro292Ala) NC_000003.12:189866788:C:G p.(Pro292Ala) NC_000003.12:189866788:C:G Identity +NM_001371411.1:c.1403del NP_001358340.1:p.Lys468fs NC_000002.12:227687484:TT:T p.(Lys468ArgfsTer45) NC_000002.12:227687484:TT:T p.(Lys468ArgfsTer45) NC_000002.12:227687484:T: Analogous +NM_000094.4:c.8712T>A NP_000085.1:p.Cys2904Ter NC_000003.12:48564888:A:T p.(Cys2904Ter) NC_000003.12:48564888:A:T p.(Cys2904Ter) NC_000003.12:48564888:A:T Identity +NM_001007204.1:c.200delA NP_001007205.1:p.Asn67Thrfs NC_000001.11:156861132:AA:A ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_000495.5:c.3052G>A NP_000486.1:p.Gly1018Ser NC_000023.11:108625739:G:A p.(Gly1018Ser) NC_000023.11:108625739:G:A p.(Gly1018Ser) NC_000023.11:108625739:G:A Identity +NM_000255.4:c.424A>G NP_000246.2:p.Thr142Ala NC_000006.12:49458019:T:C p.(Thr142Ala) NC_000006.12:49458019:T:C p.(Thr142Ala) NC_000006.12:49458019:T:C Identity +NM_000124.4:c.2349dup NP_000115.1:p.Glu784fs NC_000010.11:49476247:TTT:TTTT p.(Glu784ArgfsTer27) NC_000010.11:49476247:TTT:TTTT p.(Glu784ArgfsTer27) ERR:SPDI Analogous +NM_000127.3:c.1807A>T NP_000118.2:p.Lys603Ter NC_000008.11:117807292:T:A p.(Lys603Ter) NC_000008.11:117807292:T:A p.(Lys603Ter) NC_000008.11:117807292:T:A Identity +NM_003235.5:c.1351C>T NP_003226.4:p.Arg451Ter NC_000008.11:132886722:C:T p.(Arg451Ter) NC_000008.11:132886722:C:T p.(Arg451Ter) NC_000008.11:132886722:C:T Identity +NM_000494.4:c.2723dup NP_000485.3:p.Gly909fs NC_000010.11:104040388:GGGGGG:GGGGGGG p.(Gly909ArgfsTer56) NC_000010.11:104040388:GGGGGG:GGGGGGG p.(Gly909ArgfsTer56) ERR:SPDI Analogous +NM_000525.4:c.491T>C NP_000516.3:p.Leu164Pro NC_000011.10:17387600:A:G p.(Leu164Pro) NC_000011.10:17387600:A:G p.(Leu164Pro) NC_000011.10:17387600:A:G Identity +NM_013254.4:c.2129T>A NP_037386.1:p.Ile710Asn NC_000012.12:64498029:T:A p.(Ile710Asn) NC_000012.12:64498029:T:A p.(Ile710Asn) NC_000012.12:64498029:T:A Identity +NM_000070.3:c.1742C>G NP_000061.1:p.Ser581Cys NC_000015.10:42402998:C:G p.(Ser581Cys) NC_000015.10:42402998:C:G p.(Ser581Cys) NC_000015.10:42402998:C:G Identity +NM_001363711.2:c.477del NP_001350640.1:p.Glu160fs NC_000015.10:45111803:GGGG:GGG p.(Glu160ArgfsTer16) NC_000015.10:45111803:GGGG:GGG p.(Glu160ArgfsTer16) NC_000015.10:45111803:G: Analogous +NM_031935.3:c.1973A>T NP_114141.2:p.Tyr658Phe NC_000001.11:185963769:A:T p.(Tyr658Phe) NC_000001.11:185963769:A:T p.(Tyr658Phe) NC_000001.11:185963769:A:T Identity +NM_000553.6:c.3224T>G NP_000544.2:p.Leu1075Arg NC_000008.11:31141765:T:G p.(Leu1075Arg) NC_000008.11:31141765:T:G p.(Leu1075Arg) NC_000008.11:31141765:T:G Identity +NM_001174150.2:c.73_74del NP_001167621.1:p.Leu25fs NC_000003.12:93995884:TTTT:TT p.(Leu25AspfsTer5) NC_000003.12:93995884:TTTT:TT p.(Leu25AspfsTer5) NC_000003.12:93995886:TT: Analogous +NM_000383.4:c.1497del NP_000374.1:p.Ala500fs NC_000021.9:44294496:T: p.(Ala500ProfsTer21) NC_000021.9:44294496:T: p.(Ala500ProfsTer21) NC_000021.9:44294496:T: Analogous +NM_000268.4:c.361C>T NP_000259.1:p.Gln121Ter NC_000022.11:29639209:C:T p.(Gln121Ter) NC_000022.11:29639209:C:T p.(Gln121Ter) NC_000022.11:29639209:C:T Identity +NM_001318193.2:c.310C>G NP_001305122.2:p.His104Asp NC_000016.10:2046171:G:C p.(His104Asp) NC_000016.10:2046171:G:C p.(His104Asp) NC_000016.10:2046171:G:C Identity +NM_000206.3:c.266A>G NP_000197.1:p.Tyr89Cys NC_000023.11:71110899:T:C p.(Tyr89Cys) NC_000023.11:71110899:T:C p.(Tyr89Cys) NC_000023.11:71110899:T:C Identity +NM_000495.5:c.716G>A NP_000486.1:p.Gly239Glu NC_000023.11:108578318:G:A p.(Gly239Glu) NC_000023.11:108578318:G:A p.(Gly239Glu) NC_000023.11:108578318:G:A Identity +NM_004629.2:c.380_386dup NP_004620.1:p.Leu131fs NC_000009.12:35078264:GAAGCACGAAG:GAAGCACGAAGCACGAAG p.(Leu131PhefsTer26) NC_000009.12:35078264:GAAGCACGAAG:GAAGCACGAAGCACGAAG p.(Leu131PhefsTer26) ERR:SPDI Analogous +NM_015202.5:c.3496G>A NP_056017.4:p.Asp1166Asn NC_000016.10:27751867:G:A p.(Asp1166Asn) NC_000016.10:27751867:G:A p.(Asp1166Asn) NC_000016.10:27751867:G:A Identity +NM_001007188.4:c.1162C>T NP_001007189.1:p.Pro388Ser NC_000022.11:31804859:C:T p.(Pro388Ser) NC_000022.11:31804859:C:T p.(Pro388Ser) NC_000022.11:31804859:C:T Identity +NM_005027.4:c.565G>A NP_005018.2:p.Glu189Lys NC_000019.10:18161151:G:A p.(Glu189Lys) NC_000019.10:18161151:G:A p.(Glu189Lys) NC_000019.10:18161151:G:A Identity +NM_001105.5:c.634G>T NP_001096.1:p.Glu212Ter NC_000002.12:157774096:C:A p.(Glu212Ter) NC_000002.12:157774096:C:A p.(Glu212Ter) NC_000002.12:157774096:C:A Identity +NM_000214.3:c.1709C>T NP_000205.1:p.Thr570Ile NC_000020.11:10647970:G:A p.(Thr570Ile) NC_000020.11:10647970:G:A p.(Thr570Ile) NC_000020.11:10647970:G:A Identity +NM_001413019.1:c.2815C>G NP_001399948.1:p.Pro939Ala NC_000008.11:144512786:G:C p.(Pro939Ala) NC_000008.11:144512786:G:C p.(Pro939Ala) NC_000008.11:144512786:G:C Identity +NM_005477.3:c.452A>G NP_005468.1:p.Glu151Gly NC_000015.10:73367818:T:C p.(Glu151Gly) NC_000015.10:73367818:T:C p.(Glu151Gly) NC_000015.10:73367818:T:C Identity +NM_000118.4:c.37C>A NP_000109.1:p.Leu13Met NC_000009.12:127854318:G:T p.(Leu13Met) NC_000009.12:127854318:G:T p.(Leu13Met) NC_000009.12:127854318:G:T Identity +NM_000253.4:c.916G>A NP_000244.2:p.Glu306Lys NC_000004.12:99597072:G:A p.(Glu306Lys) NC_000004.12:99597072:G:A p.(Glu306Lys) NC_000004.12:99597072:G:A Identity +NM_001082959.2:c.1198A>G NP_001076428.1:p.Ile400Val NC_000012.12:124795198:T:C p.(Ile400Val) NC_000012.12:124795198:T:C p.(Ile400Val) NC_000012.12:124795198:T:C Identity +NM_001282164.2:c.603C>G NP_001269093.1:p.Pro201= NC_000012.12:132620518:C:G p.(Pro201=) NC_000012.12:132620518:C:G p.(Pro201=) NC_000012.12:132620518:C:G Identity +NM_000535.7:c.403C>A NP_000526.2:p.Leu135Met NC_000007.14:6002586:G:T p.(Leu135Met) NC_000007.14:6002586:G:T p.(Leu135Met) NC_000007.14:6002586:G:T Identity +NM_001413017.1:c.1939T>C NP_001399946.1:p.Ser647Pro NC_000008.11:144513950:A:G p.(Ser647Pro) NC_000008.11:144513950:A:G p.(Ser647Pro) NC_000008.11:144513950:A:G Identity +NM_005157.6:c.2842C>T NP_005148.2:p.Pro948Ser NC_000009.12:130885131:C:T p.(Pro948Ser) NC_000009.12:130885131:C:T p.(Pro948Ser) NC_000009.12:130885131:C:T Identity +NM_001256324.2:c.6532C>T NP_001243253.1:p.Arg2178Trp NC_000017.11:50626337:C:T p.(Arg2178Trp) NC_000017.11:50626337:C:T p.(Arg2178Trp) NC_000017.11:50626337:C:T Identity +NM_001386500.1:c.7613T>C NP_001373429.1:p.Leu2538Pro NC_000001.11:11108201:A:G p.(Leu2538Pro) NC_000001.11:11108201:A:G p.(Leu2538Pro) NC_000001.11:11108201:A:G Identity +NM_000548.5:c.3270del NP_000539.2:p.Gly1091fs NC_000016.10:2079412:CC:C p.(Gly1091AlafsTer12) NC_000016.10:2079412:CC:C p.(Gly1091AlafsTer12) NC_000016.10:2079413:C: Analogous +NM_001099952.4:c.2260A>C NP_001093422.2:p.Asn754His NC_000003.12:4673190:A:C p.(Asn754His) NC_000003.12:4673190:A:C p.(Asn754His) NC_000003.12:4673190:A:C Identity +NM_001079846.1:c.6566G>A NP_001073315.1:p.Gly2189Glu NC_000016.10:3728366:C:T p.(Gly2189Glu) NC_000016.10:3728366:C:T p.(Gly2189Glu) NC_000016.10:3728366:C:T Identity +NM_001040613.3:c.177dup NP_001035703.1:p.Ala60fs NC_000008.11:73976456:CC:CCC p.(Ala60ArgfsTer28) NC_000008.11:73976456:CC:CCC p.(Ala60ArgfsTer28) ERR:SPDI Analogous +NM_001005373.4:c.1717C>T NP_001005373.1:p.Gln573Ter NC_000009.12:127495981:C:T p.(Gln573Ter) NC_000009.12:127495981:C:T p.(Gln573Ter) NC_000009.12:127495981:C:T Identity +NM_001303496.3:c.517G>C NP_001290425.1:p.Asp173His NC_000007.14:93135454:C:G p.(Asp173His) NC_000007.14:93135454:C:G p.(Asp173His) NC_000007.14:93135454:C:G Identity +NM_002439.5:c.297G>C NP_002430.3:p.Lys99Asn NC_000005.10:80656469:G:C p.(Lys99Asn) NC_000005.10:80656469:G:C p.(Lys99Asn) NC_000005.10:80656469:G:C Identity +NM_001145293.2:c.127del NP_001138765.1:p.Leu43fs NC_000003.12:25783263:GG:G p.(Leu43SerfsTer62) NC_000003.12:25783263:GG:G p.(Leu43SerfsTer62) NC_000003.12:25783263:G: Analogous +NM_001425749.1:c.826A>T NP_001412678.1:p.Thr276Ser NC_000016.10:81889231:A:T p.(Thr276Ser) NC_000016.10:81889231:A:T p.(Thr276Ser) NC_000016.10:81889231:A:T Identity +NM_014727.3:c.7034G>A NP_055542.1:p.Gly2345Glu NC_000019.10:35733670:G:A p.(Gly2345Glu) NC_000019.10:35733670:G:A p.(Gly2345Glu) NC_000019.10:35733670:G:A Identity +NM_001145102.2:c.772G>A NP_001138574.1:p.Val258Ile NC_000015.10:67187441:G:A p.(Val258Ile) NC_000015.10:67187441:G:A p.(Val258Ile) NC_000015.10:67187441:G:A Identity +NM_000372.5:c.148del NP_000363.1:p.Ser50fs NC_000011.10:89178098:TTT:TT p.(Ser50GlnfsTer70) NC_000011.10:89178098:TTT:TT p.(Ser50GlnfsTer70) NC_000011.10:89178100:T: Analogous +NM_000253.4:c.109dup NP_000244.2:p.Thr37fs NC_000004.12:99581951:A:AA p.(Thr37AsnfsTer5) NC_000004.12:99581951:A:AA p.(Thr37AsnfsTer5) ERR:SPDI Analogous +NM_001282526.2:c.403T>C NP_001269455.1:p.Phe135Leu NC_000020.11:18480133:T:C p.(Phe135Leu) NC_000020.11:18480133:T:C p.(Phe135Leu) NC_000020.11:18480133:T:C Identity +NM_001001331.4:c.2216G>C NP_001001331.1:p.Arg739Pro NC_000003.12:10350497:C:G p.(Arg739Pro) NC_000003.12:10350497:C:G p.(Arg739Pro) NC_000003.12:10350497:C:G Identity +LRG_292t1:c.4406C>G LRG_292p1:p.Pro1469Arg NC_000017.11:43076565:G:C ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001413019.1:c.2341C>G NP_001399948.1:p.Pro781Ala NC_000008.11:144513339:G:C p.(Pro781Ala) NC_000008.11:144513339:G:C p.(Pro781Ala) NC_000008.11:144513339:G:C Identity +NM_001193307.2:c.1007G>A NP_001180236.1:p.Ser336Asn NC_000007.14:93105090:C:T p.(Ser336Asn) NC_000007.14:93105090:C:T p.(Ser336Asn) NC_000007.14:93105090:C:T Identity +NM_001271999.2:c.4141dup NP_001258928.1:p.Met1381fs NC_000001.11:62513584:TT:TTT p.(Met1381AsnfsTer3) NC_000001.11:62513584:TT:TTT p.(Met1381AsnfsTer3) ERR:SPDI Analogous +NM_001128844.3:c.1060C>G NP_001122316.1:p.Pro354Ala NC_000019.10:10987865:C:G p.(Pro354Ala) NC_000019.10:10987865:C:G p.(Pro354Ala) NC_000019.10:10987865:C:G Identity +NM_001128844.3:c.4862G>T NP_001122316.1:p.Arg1621Leu NC_000019.10:11060137:G:T p.(Arg1621Leu) NC_000019.10:11060137:G:T p.(Arg1621Leu) NC_000019.10:11060137:G:T Identity +NM_001367624.2:c.519del NP_001354553.1:p.Ala174fs NC_000016.10:88427986:CCC:CC p.(Ala174ProfsTer172) NC_000016.10:88427986:CCC:CC p.(Ala174ProfsTer172) NC_000016.10:88427988:C: Analogous +NM_030665.4:c.4580G>C NP_109590.3:p.Gly1527Ala NC_000017.11:17797527:G:C p.(Gly1527Ala) NC_000017.11:17797527:G:C p.(Gly1527Ala) NC_000017.11:17797527:G:C Identity +NM_001142864.4:c.4316C>T NP_001136336.2:p.Ser1439Leu NC_000016.10:88723889:G:A p.(Ser1439Leu) NC_000016.10:88723889:G:A p.(Ser1439Leu) NC_000016.10:88723889:G:A Identity +NM_000339.3:c.676G>T NP_000330.3:p.Ala226Ser NC_000016.10:56870169:G:T p.(Ala226Ser) NC_000016.10:56870169:G:T p.(Ala226Ser) NC_000016.10:56870169:G:T Identity +NM_000503.6:c.1082G>C NP_000494.2:p.Arg361Pro NC_000008.11:71244660:C:G p.(Arg361Pro) NC_000008.11:71244660:C:G p.(Arg361Pro) NC_000008.11:71244660:C:G Identity +NM_032444.4:c.3144_3148del NP_115820.2:p.His1050fs NC_000016.10:3590489:GATGAGA:GA p.(His1050LysfsTer42) NC_000016.10:3590489:GATGAGA:GA p.(His1050LysfsTer42) NC_000016.10:3590489:GATGA: Analogous +NM_001077653.2:c.481C>G NP_001071121.1:p.Arg161Gly NC_000007.14:35248740:G:C p.(Arg161Gly) NC_000007.14:35248740:G:C p.(Arg161Gly) NC_000007.14:35248740:G:C Identity +NM_001123395.2:c.201C>A NP_001116867.1:p.Tyr67Ter NC_000001.11:42739862:G:T p.(Tyr67Ter) NC_000001.11:42739862:G:T p.(Tyr67Ter) NC_000001.11:42739862:G:T Identity +NM_001282424.3:c.2666G>T NP_001269353.2:p.Gly889Val NC_000012.12:8868613:G:T p.(Gly889Val) NC_000012.12:8868613:G:T p.(Gly889Val) NC_000012.12:8868613:G:T Identity +NM_000256.3:c.2047del NP_000247.2:p.Trp683fs NC_000011.10:47339670:A: p.(Trp683GlyfsTer71) NC_000011.10:47339670:A: p.(Trp683GlyfsTer71) NC_000011.10:47339670:A: Analogous +NM_001004426.3:c.1508dup NP_001004426.1:p.Pro505fs NC_000022.11:38120830:G:GG p.(Pro505AlafsTer32) NC_000022.11:38120830:G:GG p.(Pro505AlafsTer32) ERR:SPDI Analogous +NM_004444.5:c.757T>C NP_004435.3:p.Cys253Arg NC_000007.14:100822321:A:G p.(Cys253Arg) NC_000007.14:100822321:A:G p.(Cys253Arg) NC_000007.14:100822321:A:G Identity +NM_000127.3:c.407C>A NP_000118.2:p.Ala136Glu NC_000008.11:118110639:G:T p.(Ala136Glu) NC_000008.11:118110639:G:T p.(Ala136Glu) NC_000008.11:118110639:G:T Identity +NM_001256442.2:c.976del NP_001243371.1:p.Leu326fs NC_000016.10:29814427:CC:C p.(Leu326SerfsTer11) NC_000016.10:29814427:CC:C p.(Leu326SerfsTer11) NC_000016.10:29814428:C: Analogous +NM_001306079.2:c.2021del NP_001293008.1:p.Val674fs NC_000002.12:27226884:T: p.(Val674GlyfsTer2) NC_000002.12:27226884:T: p.(Val674GlyfsTer2) NC_000002.12:27226884:T: Analogous +NM_001099400.2:c.89C>G NP_001092870.1:p.Thr30Ser NC_000007.14:94656009:G:C p.(Thr30Ser) NC_000007.14:94656009:G:C p.(Thr30Ser) NC_000007.14:94656009:G:C Identity +NM_000632.4:c.1267G>A NP_000623.2:p.Ala423Thr NC_000016.10:31278019:G:A p.(Ala423Thr) NC_000016.10:31278019:G:A p.(Ala423Thr) NC_000016.10:31278019:G:A Identity +NM_000130.5:c.1592T>C NP_000121.2:p.Leu531Pro NC_000001.11:169549819:A:G p.(Leu531Pro) NC_000001.11:169549819:A:G p.(Leu531Pro) NC_000001.11:169549819:A:G Identity +NM_001406559.1:c.1496T>C NP_001393488.1:p.Val499Ala NC_000010.11:86923453:T:C p.(Val499Ala) NC_000010.11:86923453:T:C p.(Val499Ala) NC_000010.11:86923453:T:C Identity +NM_000179.3:c.419G>A NP_000170.1:p.Arg140Lys NC_000002.12:47791084:G:A p.(Arg140Lys) NC_000002.12:47791084:G:A p.(Arg140Lys) NC_000002.12:47791084:G:A Identity +NM_000218.3:c.1597C>G NP_000209.2:p.Arg533Gly NC_000011.10:2775965:C:G p.(Arg533Gly) NC_000011.10:2775965:C:G p.(Arg533Gly) NC_000011.10:2775965:C:G Identity +NM_001407041.1:c.1578A>C NP_001393970.1:p.Glu526Asp NC_000018.10:51078385:A:C p.(Glu526Asp) NC_000018.10:51078385:A:C p.(Glu526Asp) NC_000018.10:51078385:A:C Identity +NM_001364858.1:c.833A>G NP_001351787.1:p.Asn278Ser NC_000007.14:4786417:A:G p.(Asn278Ser) NC_000007.14:4786417:A:G p.(Asn278Ser) NC_000007.14:4786417:A:G Identity +NM_001261826.3:c.3290A>C NP_001248755.1:p.Lys1097Thr NC_000019.10:2109932:T:G p.(Lys1097Thr) NC_000019.10:2109932:T:G p.(Lys1097Thr) NC_000019.10:2109932:T:G Identity +NM_199242.3:c.2868del NP_954712.1:p.Arg957fs NC_000017.11:75830113:GGG:GG p.(Arg957GlyfsTer72) NC_000017.11:75830113:GGG:GG p.(Arg957GlyfsTer72) NC_000017.11:75830113:G: Analogous +NM_001113491.2:c.1048GAG[1] NP_001106963.1:p.Glu351del NC_000017.11:77488244:GAGGAG:GAG p.(Glu351del) NC_000017.11:77488244:G:GAG ERR:Parse ERR:Parse Identity +NM_001853.4:c.1300G>T NP_001844.3:p.Ala434Ser NC_000020.11:62832165:G:T p.(Ala434Ser) NC_000020.11:62832165:G:T p.(Ala434Ser) NC_000020.11:62832165:G:T Identity +NM_001376.5:c.3400A>T NP_001367.2:p.Met1134Leu NC_000014.9:101995051:A:T p.(Met1134Leu) NC_000014.9:101995051:A:T p.(Met1134Leu) NC_000014.9:101995051:A:T Identity +NM_001029883.3:c.388del NP_001025054.1:p.Ser130fs NC_000002.12:29073873:AAAA:AAA p.(Ser130LeufsTer52) NC_000002.12:29073873:AAAA:AAA p.(Ser130LeufsTer52) NC_000002.12:29073873:A: Analogous +NM_000314.8:c.589A>G NP_000305.3:p.Lys197Glu NC_000010.11:87952213:A:G p.(Lys197Glu) NC_000010.11:87952213:A:G p.(Lys197Glu) NC_000010.11:87952213:A:G Identity +NM_003737.4:c.59A>G NP_003728.1:p.His20Arg NC_000011.10:6641554:T:C p.(His20Arg) NC_000011.10:6641554:T:C p.(His20Arg) NC_000011.10:6641554:T:C Identity +NM_001256849.1:c.3070G>A NP_001243778.1:p.Ala1024Thr NC_000019.10:50417046:G:A p.(Ala1024Thr) NC_000019.10:50417046:G:A p.(Ala1024Thr) NC_000019.10:50417046:G:A Identity +NM_001286457.2:c.521C>T NP_001273386.2:p.Thr174Ile NC_000016.10:8920400:G:A p.(Thr174Ile) NC_000016.10:8920400:G:A p.(Thr174Ile) NC_000016.10:8920400:G:A Identity +NM_001136024.4:c.1114C>T NP_001129496.1:p.Pro372Ser NC_000023.11:17725750:C:T p.(Pro372Ser) NC_000023.11:17725750:C:T p.(Pro372Ser) NC_000023.11:17725750:C:T Identity +NM_001276270.2:c.232G>A NP_001263199.1:p.Ala78Thr NC_000003.12:129437822:C:T p.(Ala78Thr) NC_000003.12:129437822:C:T p.(Ala78Thr) NC_000003.12:129437822:C:T Identity +NM_000187.4:c.398del NP_000178.2:p.Ile133fs NC_000003.12:120650809:A: p.(Ile133ThrfsTer23) NC_000003.12:120650809:A: p.(Ile133ThrfsTer23) NC_000003.12:120650809:A: Analogous +NM_020928.2:c.3442G>A NP_065979.1:p.Ala1148Thr NC_000005.10:61544110:G:A p.(Ala1148Thr) NC_000005.10:61544110:G:A p.(Ala1148Thr) NC_000005.10:61544110:G:A Identity +NM_001110792.2:c.745_746del NP_001104262.1:p.Gly249fs NC_000023.11:154031117:CCCCCC:CCCC p.(Gly249TrpfsTer21) NC_000023.11:154031117:CCCCCC:CCCC p.(Gly249TrpfsTer21) NC_000023.11:154031117:CC: Analogous +NM_001042594.2:c.1082_1083insA NP_001036059.1:p.Phe361fs NC_000007.14:124835308::T p.(Phe361LeufsTer13) NC_000007.14:124835307:A:T p.(Phe361LeufsTer13) NC_000007.14:124835308:AA:T Analogous +NM_000088.4:c.2372G>C NP_000079.2:p.Gly791Ala NC_000017.11:50190567:C:G p.(Gly791Ala) NC_000017.11:50190567:C:G p.(Gly791Ala) NC_000017.11:50190567:C:G Identity +NM_000179.3:c.2843_2846del NP_000170.1:p.Glu948fs NC_000002.12:47800825:AACA: p.(Glu948GlyfsTer7) NC_000002.12:47800825:AACA: p.(Glu948GlyfsTer7) NC_000002.12:47800825:AACA: Analogous +NM_001193465.2:c.1457C>T NP_001180394.1:p.Pro486Leu NC_000017.11:46082516:G:A p.(Pro486Leu) NC_000017.11:46082516:G:A p.(Pro486Leu) NC_000017.11:46082516:G:A Identity +NM_001308258.2:c.117_124dup NP_001295187.1:p.Glu42fs NC_000003.12:149129838:GCAAGGTGG:GCAAGGTGGCAAGGTGG p.(Glu42AlafsTer76) NC_000003.12:149129838:GCAAGGTGG:GCAAGGTGGCAAGGTGG p.(Glu42AlafsTer76) ERR:SPDI Analogous +NM_000346.4:c.268C>T NP_000337.1:p.Pro90Ser NC_000017.11:72121658:C:T p.(Pro90Ser) NC_000017.11:72121658:C:T p.(Pro90Ser) NC_000017.11:72121658:C:T Identity +NM_000059.4:c.3467del NP_000050.3:p.Ser1156fs NC_000013.11:32337821:C: p.(Ser1156LeufsTer12) NC_000013.11:32337821:C: p.(Ser1156LeufsTer12) NC_000013.11:32337821:C: Analogous +NM_001311255.1:c.374_375del NP_001298184.1:p.Lys125fs NC_000015.10:45605471:AAAA:AA p.(Lys125ArgfsTer7) NC_000015.10:45605471:AAAA:AA p.(Lys125ArgfsTer7) NC_000015.10:45605473:AA: Analogous +NM_001288607.2:c.816_817del NP_001275536.1:p.Gly273fs NC_000001.11:150553805:GTG:G p.(Gly273LeufsTer27) NC_000001.11:150553805:GTG:G p.(Gly273LeufsTer27) NC_000001.11:150553806:TG: Analogous +NM_000053.4:c.987_988dup NP_000044.2:p.Gly330fs NC_000013.11:51974231:CA:CACA p.(Gly330ValfsTer34) NC_000013.11:51974231:CA:CACA p.(Gly330ValfsTer34) ERR:SPDI Analogous +NM_000540.3:c.5015T>A NP_000531.2:p.Val1672Glu NC_000019.10:38485669:T:A p.(Val1672Glu) NC_000019.10:38485669:T:A p.(Val1672Glu) NC_000019.10:38485669:T:A Identity +NM_000038.6:c.1434_1435dup NP_000029.2:p.Leu479fs NC_000005.10:112827131:TAT:TATAT p.(Leu479TyrfsTer20) NC_000005.10:112827131:TAT:TATAT p.(Leu479TyrfsTer20) ERR:SPDI Analogous +NM_004501.3:c.1246A>G NP_004492.2:p.Ser416Gly NC_000001.11:244858201:T:C p.(Ser416Gly) NC_000001.11:244858201:T:C p.(Ser416Gly) NC_000001.11:244858201:T:C Identity +NM_000368.5:c.2077_2078dup NP_000359.1:p.Asp693fs NC_000009.12:132903780:TCTC:TCTCTC p.(Asp693GlufsTer32) NC_000009.12:132903780:TCTC:TCTCTC p.(Asp693GlufsTer32) ERR:SPDI Analogous +NM_003680.4:c.1010C>G NP_003671.1:p.Ala337Gly NC_000001.11:32782435:G:C p.(Ala337Gly) NC_000001.11:32782435:G:C p.(Ala337Gly) NC_000001.11:32782435:G:C Identity +NM_001130991.3:c.1714T>A NP_001124463.1:p.Ser572Thr NC_000011.10:119049788:A:T p.(Ser572Thr) NC_000011.10:119049788:A:T p.(Ser572Thr) NC_000011.10:119049788:A:T Identity +NM_001363656.2:c.1051G>A NP_001350585.1:p.Gly351Arg NC_000019.10:52222167:G:A p.(Gly351Arg) NC_000019.10:52222167:G:A p.(Gly351Arg) NC_000019.10:52222167:G:A Identity +NM_000401.3:c.1143T>A NP_000392.3:p.Tyr381Ter NC_000011.10:44126919:T:A p.(Tyr381Ter) NC_000011.10:44126919:T:A p.(Tyr381Ter) NC_000011.10:44126919:T:A Identity +NM_000179.3:c.4069A>C NP_000170.1:p.Ile1357Leu NC_000002.12:47806845:A:C p.(Ile1357Leu) NC_000002.12:47806845:A:C p.(Ile1357Leu) NC_000002.12:47806845:A:C Identity +NM_001382629.1:c.468dup NP_001369558.1:p.Gly157fs NC_000006.12:73636621:AAAAAA:AAAAAAA p.(Gly157TrpfsTer16) NC_000006.12:73636621:AAAAAA:AAAAAAA p.(Gly157TrpfsTer16) ERR:SPDI Analogous +NM_022726.4:c.41T>A NP_073563.1:p.Val14Glu NC_000006.12:79947238:A:T p.(Val14Glu) NC_000006.12:79947238:A:T p.(Val14Glu) NC_000006.12:79947238:A:T Identity +NM_001178145.3:c.1502T>A NP_001171616.2:p.Met501Lys NC_000003.12:151436995:A:T p.(Met501Lys) NC_000003.12:151436995:A:T p.(Met501Lys) NC_000003.12:151436995:A:T Identity +NM_000118.4:c.1660C>T NP_000109.1:p.Arg554Cys NC_000009.12:127818145:G:A p.(Arg554Cys) NC_000009.12:127818145:G:A p.(Arg554Cys) NC_000009.12:127818145:G:A Identity +NM_001104631.2:c.569C>A NP_001098101.1:p.Ser190Tyr NC_000005.10:59215854:G:T p.(Ser190Tyr) NC_000005.10:59215854:G:T p.(Ser190Tyr) NC_000005.10:59215854:G:T Identity +NM_174916.3:c.4704del NP_777576.1:p.Trp1568fs NC_000015.10:42960697:CC:C p.(Trp1568CysfsTer8) NC_000015.10:42960697:CC:C p.(Trp1568CysfsTer8) NC_000015.10:42960697:C: Analogous +NM_001407296.1:c.1390_1393dup NP_001394225.1:p.Thr465fs NC_000016.10:23635092:TTAAT:TTAATTAAT p.(Thr465IlefsTer3) NC_000016.10:23635092:TTAAT:TTAATTAAT p.(Thr465IlefsTer3) ERR:SPDI Analogous +NM_005430.4:c.513C>G NP_005421.1:p.Ser171Arg NC_000012.12:48980577:C:G p.(Ser171Arg) NC_000012.12:48980577:C:G p.(Ser171Arg) NC_000012.12:48980577:C:G Identity +NM_006269.2:c.5078T>A NP_006260.1:p.Leu1693Ter NC_000008.11:54628959:T:A p.(Leu1693Ter) NC_000008.11:54628959:T:A p.(Leu1693Ter) NC_000008.11:54628959:T:A Identity +NM_000170.3:c.2594del NP_000161.2:p.Leu865fs NC_000009.12:6540121:AAAA:AAA p.(Leu865TrpfsTer59) NC_000009.12:6540121:AAAA:AAA p.(Leu865TrpfsTer59) NC_000009.12:6540121:A: Analogous +NM_001159291.2:c.1711A>G NP_001152763.1:p.Lys571Glu NC_000006.12:109447697:T:C p.(Lys571Glu) NC_000006.12:109447697:T:C p.(Lys571Glu) NC_000006.12:109447697:T:C Identity +NM_001846.4:c.5128A>C NP_001837.2:p.Lys1710Gln NC_000013.11:110512179:A:C p.(Lys1710Gln) NC_000013.11:110512179:A:C p.(Lys1710Gln) NC_000013.11:110512179:A:C Identity +NM_007217.4:c.131T>G NP_009148.2:p.Leu44Arg NC_000003.12:167704860:A:C p.(Leu44Arg) NC_000003.12:167704860:A:C p.(Leu44Arg) NC_000003.12:167704860:A:C Identity +NM_031935.3:c.11318C>T NP_114141.2:p.Ala3773Val NC_000001.11:186114859:C:T p.(Ala3773Val) NC_000001.11:186114859:C:T p.(Ala3773Val) NC_000001.11:186114859:C:T Identity +NM_000833.5:c.2769C>G NP_000824.1:p.Asp923Glu NC_000016.10:9764774:G:C p.(Asp923Glu) NC_000016.10:9764774:G:C p.(Asp923Glu) NC_000016.10:9764774:G:C Identity +NM_032119.4:c.47del NP_115495.3:p.Val16fs NC_000005.10:90614858:T: p.(Val16GlufsTer18) NC_000005.10:90614858:T: p.(Val16GlufsTer18) NC_000005.10:90614858:T: Analogous +NM_001363850.1:c.1217A>G NP_001350779.1:p.Tyr406Cys NC_000016.10:89532528:A:G p.(Tyr406Cys) NC_000016.10:89532528:A:G p.(Tyr406Cys) NC_000016.10:89532528:A:G Identity +NM_001321307.1:c.881C>T NP_001308236.1:p.Ser294Leu NC_000011.10:108185256:G:A p.(Ser294Leu) NC_000011.10:108185256:G:A p.(Ser294Leu) NC_000011.10:108185256:G:A Identity +NM_000046.5:c.1533del NP_000037.2:p.Val512fs NC_000005.10:78780465:GGGG:GGG p.(Val512CysfsTer62) NC_000005.10:78780465:GGGG:GGG p.(Val512CysfsTer62) NC_000005.10:78780465:G: Analogous +NM_001848.3:c.2638G>C NP_001839.2:p.Gly880Arg NC_000021.9:46003563:G:C p.(Gly880Arg) NC_000021.9:46003563:G:C p.(Gly880Arg) NC_000021.9:46003563:G:C Identity +NM_001308093.3:c.367G>C NP_001295022.1:p.Ala123Pro NC_000008.11:11708678:G:C p.(Ala123Pro) NC_000008.11:11708678:G:C p.(Ala123Pro) NC_000008.11:11708678:G:C Identity +NM_002872.5:c.340G>C NP_002863.1:p.Gly114Arg NC_000022.11:37231338:C:G p.(Gly114Arg) NC_000022.11:37231338:C:G p.(Gly114Arg) NC_000022.11:37231338:C:G Identity +NM_001048171.2:c.794A>G NP_001041636.2:p.Gln265Arg NC_000001.11:45332220:T:C p.(Gln265Arg) NC_000001.11:45332220:T:C p.(Gln265Arg) NC_000001.11:45332220:T:C Identity +NM_000314.8:c.201A>G NP_000305.3:p.Ile67Met NC_000010.11:87925548:A:G p.(Ile67Met) NC_000010.11:87925548:A:G p.(Ile67Met) NC_000010.11:87925548:A:G Identity +NM_000262.3:c.756_757del NP_000253.1:p.Met253fs NC_000022.11:42065739:TGT:T p.(Met253AlafsTer83) NC_000022.11:42065739:TGT:T p.(Met253AlafsTer83) NC_000022.11:42065739:TG: Analogous +NM_001413017.1:c.519G>T NP_001399946.1:p.Gln173His NC_000008.11:144516599:C:A p.(Gln173His) NC_000008.11:144516599:C:A p.(Gln173His) NC_000008.11:144516599:C:A Identity +NM_001310332.2:c.774G>C NP_001297261.1:p.Gln258His NC_000014.9:24150626:G:C p.(Gln258His) NC_000014.9:24150626:G:C p.(Gln258His) NC_000014.9:24150626:G:C Identity +NM_001271769.2:c.1783_1790del NP_001258698.1:p.Pro595fs NC_000005.10:78128060:GGGTCGGG: p.(Pro595IlefsTer27) NC_000005.10:78128060:GGGTCGGG: p.(Pro595IlefsTer27) NC_000005.10:78128060:GGGTCGGG: Analogous +NM_001135659.3:c.2549A>G NP_001129131.1:p.His850Arg NC_000002.12:50506562:T:C p.(His850Arg) NC_000002.12:50506562:T:C p.(His850Arg) NC_000002.12:50506562:T:C Identity +NM_001407362.1:c.1111G>T NP_001394291.1:p.Val371Leu NC_000002.12:47801148:G:T p.(Val371Leu) NC_000002.12:47801148:G:T p.(Val371Leu) NC_000002.12:47801148:G:T Identity +NM_000179.3:c.144_177dup NP_000170.1:p.Leu60fs NC_000002.12:47783375:CGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCC:CGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCC p.(Leu60GlyfsTer41) NC_000002.12:47783375:CGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCC:CGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCC p.(Leu60GlyfsTer41) ERR:SPDI Analogous +NM_006269.2:c.2398A>T NP_006260.1:p.Lys800Ter NC_000008.11:54626279:A:T p.(Lys800Ter) NC_000008.11:54626279:A:T p.(Lys800Ter) NC_000008.11:54626279:A:T Identity +NM_018706.7:c.2264G>C NP_061176.4:p.Arg755Pro NC_000010.11:12113008:G:C p.(Arg755Pro) NC_000010.11:12113008:G:C p.(Arg755Pro) NC_000010.11:12113008:G:C Identity +NM_001244808.3:c.1949T>C NP_001231737.1:p.Leu650Ser NC_000003.12:70959328:A:G p.(Leu650Ser) NC_000003.12:70959328:A:G p.(Leu650Ser) NC_000003.12:70959328:A:G Identity +NM_001007097.3:c.480G>C NP_001007098.1:p.Lys160Asn NC_000009.12:84710687:G:C p.(Lys160Asn) NC_000009.12:84710687:G:C p.(Lys160Asn) NC_000009.12:84710687:G:C Identity +NM_001288607.2:c.923del NP_001275536.1:p.Gly308fs NC_000001.11:150553910:GGGG:GGG p.(Gly308AlafsTer35) NC_000001.11:150553910:GGGG:GGG p.(Gly308AlafsTer35) NC_000001.11:150553913:G: Analogous +NM_001243776.2:c.754A>G NP_001230705.1:p.Lys252Glu NC_000011.10:95821951:A:G p.(Lys252Glu) NC_000011.10:95821951:A:G p.(Lys252Glu) NC_000011.10:95821951:A:G Identity +NM_001024218.2:c.814C>G NP_001019389.1:p.Arg272Gly NC_000014.9:66965274:C:G p.(Arg272Gly) NC_000014.9:66965274:C:G p.(Arg272Gly) NC_000014.9:66965274:C:G Identity +NM_001320974.2:c.298dup NP_001307903.1:p.Val100fs NC_000010.11:99727537:CC:CCC p.(Val100GlyfsTer32) NC_000010.11:99727537:CC:CCC p.(Val100GlyfsTer32) ERR:SPDI Analogous +NM_001184824.4:c.697del NP_001171753.1:p.Asp233fs NC_000016.10:68339885:GGG:GG p.(Asp233ThrfsTer54) NC_000016.10:68339885:GGG:GG p.(Asp233ThrfsTer54) NC_000016.10:68339887:G: Analogous +NM_001126105.3:c.158_159delinsGA NP_001119577.1:p.Ser53Ter NC_000014.9:22813239:CG:TC p.(Ser53Ter) NC_000014.9:22813239:CG:TC p.(Ser53Ter) NC_000014.9:22813239:CG:TC Identity +NM_000227.6:c.5048G>A NP_000218.3:p.Arg1683Lys NC_000018.10:23954520:G:A p.(Arg1683Lys) NC_000018.10:23954520:G:A p.(Arg1683Lys) NC_000018.10:23954520:G:A Identity +NM_006516.4:c.683T>C NP_006507.2:p.Leu228Pro NC_000001.11:42929776:A:G p.(Leu228Pro) NC_000001.11:42929776:A:G p.(Leu228Pro) NC_000001.11:42929776:A:G Identity +NM_001100.4:c.69C>A NP_001091.1:p.Phe23Leu NC_000001.11:229433046:G:T p.(Phe23Leu) NC_000001.11:229433046:G:T p.(Phe23Leu) NC_000001.11:229433046:G:T Identity +NM_001257374.3:c.879_882del NP_001244303.1:p.Ser294fs NC_000001.11:156136266:CTCACTCA:CTCA p.(Ser294ProfsTer73) NC_000001.11:156136266:CTCACTCA:CTCA p.(Ser294ProfsTer73) NC_000001.11:156136270:CTCA: Analogous +NM_014484.5:c.485C>A NP_055299.1:p.Thr162Lys NC_000020.11:50959326:C:A p.(Thr162Lys) NC_000020.11:50959326:C:A p.(Thr162Lys) NC_000020.11:50959326:C:A Identity +NM_001127208.3:c.5688del NP_001120680.1:p.Ile1897fs NC_000004.12:105276196:GG:G p.(Ile1897SerfsTer11) NC_000004.12:105276196:GG:G p.(Ile1897SerfsTer11) NC_000004.12:105276197:G: Analogous +NM_001142605.2:c.626A>C NP_001136077.1:p.Lys209Thr NC_000017.11:44876071:T:G p.(Lys209Thr) NC_000017.11:44876071:T:G p.(Lys209Thr) NC_000017.11:44876071:T:G Identity +NM_001382235.1:c.2091T>G NP_001369164.1:p.His697Gln NC_000020.11:63407225:A:C p.(His697Gln) NC_000020.11:63407225:A:C p.(His697Gln) NC_000020.11:63407225:A:C Identity +NM_001033855.3:c.787G>T NP_001029027.1:p.Glu263Ter NC_000010.11:14928145:C:A p.(Glu263Ter) NC_000010.11:14928145:C:A p.(Glu263Ter) NC_000010.11:14928145:C:A Identity +NM_001942.4:c.1442T>C NP_001933.2:p.Ile481Thr NC_000018.10:31339779:T:C p.(Ile481Thr) NC_000018.10:31339779:T:C p.(Ile481Thr) NC_000018.10:31339779:T:C Identity +NM_001146008.2:c.363C>G NP_001139480.1:p.Tyr121Ter NC_000008.11:69832310:G:C p.(Tyr121Ter) NC_000008.11:69832310:G:C p.(Tyr121Ter) NC_000008.11:69832310:G:C Identity +NM_001135599.4:c.1153_1156del NP_001129071.1:p.Asp385fs NC_000001.11:218437476:CAGACA:CA p.(Asp385LeufsTer7) NC_000001.11:218437476:CAGACA:CA p.(Asp385LeufsTer7) NC_000001.11:218437478:GACA: Analogous +NM_001256213.2:c.584A>G NP_001243142.1:p.Lys195Arg NC_000019.10:41985918:T:C p.(Lys195Arg) NC_000019.10:41985918:T:C p.(Lys195Arg) NC_000019.10:41985918:T:C Identity +NM_000179.3:c.1094G>A NP_000170.1:p.Trp365Ter NC_000002.12:47799076:G:A p.(Trp365Ter) NC_000002.12:47799076:G:A p.(Trp365Ter) NC_000002.12:47799076:G:A Identity +NM_001282948.2:c.1793A>G NP_001269877.1:p.His598Arg NC_000010.11:63213827:T:C p.(His598Arg) NC_000010.11:63213827:T:C p.(His598Arg) NC_000010.11:63213827:T:C Identity +NM_001318900.1:c.556T>A NP_001305829.1:p.Tyr186Asn NC_000010.11:87061018:A:T p.(Tyr186Asn) NC_000010.11:87061018:A:T p.(Tyr186Asn) NC_000010.11:87061018:A:T Identity +NM_001425749.1:c.2774C>T NP_001412678.1:p.Ser925Phe NC_000016.10:81934462:C:T p.(Ser925Phe) NC_000016.10:81934462:C:T p.(Ser925Phe) NC_000016.10:81934462:C:T Identity +NM_000038.6:c.3335C>T NP_000029.2:p.Thr1112Ile NC_000005.10:112838928:C:T p.(Thr1112Ile) NC_000005.10:112838928:C:T p.(Thr1112Ile) NC_000005.10:112838928:C:T Identity +NM_001303245.3:c.1961C>T NP_001290174.1:p.Pro654Leu NC_000003.12:141607701:C:T p.(Pro654Leu) NC_000003.12:141607701:C:T p.(Pro654Leu) NC_000003.12:141607701:C:T Identity +NM_001353229.2:c.1117G>A NP_001340158.1:p.Val373Ile NC_000017.11:17217181:C:T p.(Val373Ile) NC_000017.11:17217181:C:T p.(Val373Ile) NC_000017.11:17217181:C:T Identity +NM_000328.3:c.967C>G NP_000319.1:p.Arg323Gly NC_000023.11:38301338:G:C p.(Arg323Gly) NC_000023.11:38301338:G:C p.(Arg323Gly) NC_000023.11:38301338:G:C Identity +NM_001083962.2:c.1417C>G NP_001077431.1:p.Pro473Ala NC_000018.10:55234616:G:C p.(Pro473Ala) NC_000018.10:55234616:G:C p.(Pro473Ala) NC_000018.10:55234616:G:C Identity +NM_001369786.1:c.441G>T NP_001356715.1:p.Lys147Asn NC_000012.12:25225622:C:A p.(Lys147Asn) NC_000012.12:25225622:C:A p.(Lys147Asn) NC_000012.12:25225622:C:A Identity +NM_001291726.2:c.418C>T NP_001278655.1:p.Gln140Ter NC_000017.11:39673636:G:A p.(Gln140Ter) NC_000017.11:39673636:G:A p.(Gln140Ter) NC_000017.11:39673636:G:A Identity +NM_000092.5:c.1430del NP_000083.3:p.Pro477fs NC_000002.12:227089896:GGGGG:GGGG p.(Pro477GlnfsTer176) NC_000002.12:227089896:GGGGG:GGGG p.(Pro477GlnfsTer176) NC_000002.12:227089896:G: Analogous +NM_000352.6:c.4177C>G NP_000343.2:p.Arg1393Gly NC_000011.10:17395872:G:C p.(Arg1393Gly) NC_000011.10:17395872:G:C p.(Arg1393Gly) NC_000011.10:17395872:G:C Identity +NM_001265612.2:c.7005T>A NP_001252541.1:p.His2335Gln NC_000016.10:58521214:A:T p.(His2335Gln) NC_000016.10:58521214:A:T p.(His2335Gln) NC_000016.10:58521214:A:T Identity +NM_000465.4:c.1693C>A NP_000456.2:p.Arg565Ser NC_000002.12:214745838:G:T p.(Arg565Ser) NC_000002.12:214745838:G:T p.(Arg565Ser) NC_000002.12:214745838:G:T Identity +NM_002876.4:c.131C>T NP_002867.1:p.Ser44Phe NC_000017.11:58692773:C:T p.(Ser44Phe) NC_000017.11:58692773:C:T p.(Ser44Phe) NC_000017.11:58692773:C:T Identity +NM_000719.7:c.6236A>G NP_000710.5:p.Asp2079Gly NC_000012.12:2691017:A:G p.(Asp2079Gly) NC_000012.12:2691017:A:G p.(Asp2079Gly) NC_000012.12:2691017:A:G Identity +NM_001844.5:c.1283C>T NP_001835.3:p.Ala428Val NC_000012.12:47987159:G:A p.(Ala428Val) NC_000012.12:47987159:G:A p.(Ala428Val) NC_000012.12:47987159:G:A Identity +NM_001256849.1:c.1721dup NP_001243778.1:p.Ser575fs NC_000019.10:50407359:AA:AAA p.(Ser575ValfsTer60) NC_000019.10:50407359:AA:AAA p.(Ser575ValfsTer60) ERR:SPDI Analogous +NM_001039958.2:c.321del NP_001035047.1:p.Leu108fs NC_000015.10:89776675:TTT:TT p.(Leu108CysfsTer12) NC_000015.10:89776675:TTT:TT p.(Leu108CysfsTer12) NC_000015.10:89776677:T: Analogous +NM_001301128.2:c.2438A>T NP_001288057.1:p.Tyr813Phe NC_000007.14:78168031:T:A p.(Tyr813Phe) NC_000007.14:78168031:T:A p.(Tyr813Phe) NC_000007.14:78168031:T:A Identity +NM_004863.4:c.1448G>T NP_004854.1:p.Gly483Val NC_000014.9:77518158:C:A p.(Gly483Val) NC_000014.9:77518158:C:A p.(Gly483Val) NC_000014.9:77518158:C:A Identity +NM_001999.4:c.2356A>C NP_001990.2:p.Asn786His NC_000005.10:128364671:T:G p.(Asn786His) NC_000005.10:128364671:T:G p.(Asn786His) NC_000005.10:128364671:T:G Identity +NM_000540.3:c.10330T>G NP_000531.2:p.Tyr3444Asp NC_000019.10:38523097:T:G p.(Tyr3444Asp) NC_000019.10:38523097:T:G p.(Tyr3444Asp) NC_000019.10:38523097:T:G Identity +NM_001424108.1:c.4580G>A NP_001411037.1:p.Trp1527Ter NC_000006.12:33164954:C:T p.(Trp1527Ter) NC_000006.12:33164954:C:T p.(Trp1527Ter) NC_000006.12:33164954:C:T Identity +NM_005120.3:c.4639G>C NP_005111.2:p.Val1547Leu NC_000023.11:71134377:G:C p.(Val1547Leu) NC_000023.11:71134377:G:C p.(Val1547Leu) NC_000023.11:71134377:G:C Identity +NM_001853.4:c.1661G>A NP_001844.3:p.Gly554Asp NC_000020.11:62837139:G:A p.(Gly554Asp) NC_000020.11:62837139:G:A p.(Gly554Asp) NC_000020.11:62837139:G:A Identity +NM_000362.5:c.605A>T NP_000353.1:p.Asp202Val NC_000022.11:32859345:A:T p.(Asp202Val) NC_000022.11:32859345:A:T p.(Asp202Val) NC_000022.11:32859345:A:T Identity +NM_000165.5:c.197A>G NP_000156.1:p.Tyr66Cys NC_000006.12:121447043:A:G p.(Tyr66Cys) NC_000006.12:121447043:A:G p.(Tyr66Cys) NC_000006.12:121447043:A:G Identity +NM_000319.5:c.1787G>A NP_000310.2:p.Trp596Ter NC_000012.12:7210113:G:A p.(Trp596Ter) NC_000012.12:7210113:G:A p.(Trp596Ter) NC_000012.12:7210113:G:A Identity +NM_001411101.1:c.29del NP_001398030.1:p.Gly10fs NC_000017.11:82752219:GGG:GG p.(Gly10AlafsTer55) NC_000017.11:82752219:GGG:GG p.(Gly10AlafsTer55) NC_000017.11:82752221:G: Analogous +NM_002439.5:c.281A>G NP_002430.3:p.Asp94Gly NC_000005.10:80656453:A:G p.(Asp94Gly) NC_000005.10:80656453:A:G p.(Asp94Gly) NC_000005.10:80656453:A:G Identity +NM_001244808.3:c.1747C>A NP_001231737.1:p.Leu583Ile NC_000003.12:70966028:G:T p.(Leu583Ile) NC_000003.12:70966028:G:T p.(Leu583Ile) NC_000003.12:70966028:G:T Identity +NM_000038.6:c.8227A>G NP_000029.2:p.Asn2743Asp NC_000005.10:112843820:A:G p.(Asn2743Asp) NC_000005.10:112843820:A:G p.(Asn2743Asp) NC_000005.10:112843820:A:G Identity +NM_000136.3:c.16_23del NP_000127.2:p.Val6fs NC_000009.12:95249268:AGATCTAC: p.(Val6PhefsTer3) NC_000009.12:95249268:AGATCTAC: p.(Val6PhefsTer3) NC_000009.12:95249268:AGATCTAC: Analogous +NM_016562.4:c.332T>C NP_057646.1:p.Met111Thr NC_000023.11:12885839:T:C p.(Met111Thr) NC_000023.11:12885839:T:C p.(Met111Thr) NC_000023.11:12885839:T:C Identity +NM_021072.4:c.1266G>T NP_066550.2:p.Lys422Asn NC_000005.10:45353210:C:A p.(Lys422Asn) NC_000005.10:45353210:C:A p.(Lys422Asn) NC_000005.10:45353210:C:A Identity +NM_001007097.3:c.1261G>C NP_001007098.1:p.Asp421His NC_000009.12:84745037:G:C p.(Asp421His) NC_000009.12:84745037:G:C p.(Asp421His) NC_000009.12:84745037:G:C Identity +NM_001270507.2:c.688G>A NP_001257436.1:p.Gly230Ser NC_000006.12:137876048:G:A p.(Gly230Ser) NC_000006.12:137876048:G:A p.(Gly230Ser) NC_000006.12:137876048:G:A Identity +NM_006231.4:c.4651_4652insTG NP_006222.2:p.His1551fs NC_000012.12:132642896::CA p.(His1551LeufsTer12) NC_000012.12:132642895:T:CA p.(His1551LeufsTer12) NC_000012.12:132642896:TG:CA Analogous +NM_001145472.3:c.1784G>A NP_001138944.1:p.Cys595Tyr NC_000018.10:46521250:C:T p.(Cys595Tyr) NC_000018.10:46521250:C:T p.(Cys595Tyr) NC_000018.10:46521250:C:T Identity +NM_030665.4:c.2465C>T NP_109590.3:p.Ala822Val NC_000017.11:17795412:C:T p.(Ala822Val) NC_000017.11:17795412:C:T p.(Ala822Val) NC_000017.11:17795412:C:T Identity +NM_003482.4:c.5856C>A NP_003473.3:p.Phe1952Leu NC_000012.12:49042571:G:T p.(Phe1952Leu) NC_000012.12:49042571:G:T p.(Phe1952Leu) NC_000012.12:49042571:G:T Identity +NM_001424108.1:c.2014A>T NP_001411037.1:p.Lys672Ter NC_000006.12:33176278:T:A p.(Lys672Ter) NC_000006.12:33176278:T:A p.(Lys672Ter) NC_000006.12:33176278:T:A Identity +NM_001164507.2:c.24667dup NP_001157979.2:p.Ser8223fs NC_000002.12:151493779:T:TT p.(Ser8223LysfsTer25) NC_000002.12:151493779:T:TT p.(Ser8223LysfsTer25) ERR:SPDI Analogous +NM_001346897.2:c.2717G>A NP_001333826.1:p.Trp906Ter NC_000007.14:55200318:G:A p.(Trp906Ter) NC_000007.14:55200318:G:A p.(Trp906Ter) NC_000007.14:55200318:G:A Identity +NM_001077182.3:c.138G>C NP_001070650.1:p.Trp46Cys NC_000017.11:81528668:G:C p.(Trp46Cys) NC_000017.11:81528668:G:C p.(Trp46Cys) NC_000017.11:81528668:G:C Identity +NM_001319074.4:c.4T>C NP_001306003.2:p.Phe2Leu NC_000019.10:3771738:A:G p.(Phe2Leu) NC_000019.10:3771738:A:G p.(Phe2Leu) NC_000019.10:3771738:A:G Identity +NM_000257.4:c.1828C>G NP_000248.2:p.Gln610Glu NC_000014.9:23427644:G:C p.(Gln610Glu) NC_000014.9:23427644:G:C p.(Gln610Glu) NC_000014.9:23427644:G:C Identity +NM_001203263.2:c.1421C>T NP_001190192.2:p.Ala474Val NC_000003.12:9932640:C:T p.(Ala474Val) NC_000003.12:9932640:C:T p.(Ala474Val) NC_000003.12:9932640:C:T Identity +NM_000742.4:c.29C>A NP_000733.2:p.Ser10Tyr NC_000008.11:27471029:G:T p.(Ser10Tyr) NC_000008.11:27471029:G:T p.(Ser10Tyr) NC_000008.11:27471029:G:T Identity +NM_001365023.1:c.989T>G NP_001351952.1:p.Leu330Arg NC_000009.12:74665550:T:G p.(Leu330Arg) NC_000009.12:74665550:T:G p.(Leu330Arg) NC_000009.12:74665550:T:G Identity +NM_001844.5:c.2759C>A NP_001835.3:p.Pro920His NC_000012.12:47978732:G:T p.(Pro920His) NC_000012.12:47978732:G:T p.(Pro920His) NC_000012.12:47978732:G:T Identity +NM_001079846.1:c.1498dup NP_001073315.1:p.Thr500fs NC_000016.10:3781267:TT:TTT p.(Thr500AsnfsTer33) NC_000016.10:3781267:TT:TTT p.(Thr500AsnfsTer33) ERR:SPDI Analogous +NM_001376.5:c.10805A>G NP_001367.2:p.Asn3602Ser NC_000014.9:102036538:A:G p.(Asn3602Ser) NC_000014.9:102036538:A:G p.(Asn3602Ser) NC_000014.9:102036538:A:G Identity +NM_001276289.2:c.1055G>A NP_001263218.1:p.Arg352Gln NC_000017.11:68530357:G:A p.(Arg352Gln) NC_000017.11:68530357:G:A p.(Arg352Gln) NC_000017.11:68530357:G:A Identity +NM_001168249.1:c.2623G>T NP_001161721.1:p.Gly875Cys NC_000001.11:102962705:C:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_003680.4:c.424C>T NP_003671.1:p.Gln142Ter NC_000001.11:32806567:G:A p.(Gln142Ter) NC_000001.11:32806567:G:A p.(Gln142Ter) NC_000001.11:32806567:G:A Identity +NM_001379291.1:c.2810A>G NP_001366220.1:p.Lys937Arg NC_000019.10:15243258:T:C p.(Lys937Arg) NC_000019.10:15243258:T:C p.(Lys937Arg) NC_000019.10:15243258:T:C Identity +NM_000458.4:c.709A>C NP_000449.1:p.Lys237Gln NC_000017.11:37733656:T:G p.(Lys237Gln) NC_000017.11:37733656:T:G p.(Lys237Gln) NC_000017.11:37733656:T:G Identity +NM_000548.5:c.3976A>T NP_000539.2:p.Met1326Leu NC_000016.10:2083786:A:T p.(Met1326Leu) NC_000016.10:2083786:A:T p.(Met1326Leu) NC_000016.10:2083786:A:T Identity +NM_000465.4:c.334C>G NP_000456.2:p.Arg112Gly NC_000002.12:214792326:G:C p.(Arg112Gly) NC_000002.12:214792326:G:C p.(Arg112Gly) NC_000002.12:214792326:G:C Identity +NM_001378418.1:c.85G>T NP_001365347.1:p.Glu29Ter NC_000022.11:42215220:C:A p.(Glu29Ter) NC_000022.11:42215220:C:A p.(Glu29Ter) NC_000022.11:42215220:C:A Identity +NM_001174098.2:c.67_70del NP_001167569.1:p.Leu24fs NC_000010.11:71322819:CAGTC:C p.(Leu24GlufsTer76) NC_000010.11:71322819:CAGTC:C p.(Leu24GlufsTer76) NC_000010.11:71322820:AGTC: Analogous +NM_001271933.2:c.2490del NP_001258862.1:p.Tyr831fs NC_000011.10:117392612:GGG:GG p.(Tyr831MetfsTer27) NC_000011.10:117392612:GGG:GG p.(Tyr831MetfsTer27) NC_000011.10:117392614:G: Analogous +NM_017617.5:c.3707C>T NP_060087.3:p.Pro1236Leu NC_000009.12:136506909:G:A p.(Pro1236Leu) NC_000009.12:136506909:G:A p.(Pro1236Leu) NC_000009.12:136506909:G:A Identity +NM_001447.3:c.8780C>A NP_001438.1:p.Thr2927Asn NC_000005.10:151542346:G:T p.(Thr2927Asn) NC_000005.10:151542346:G:T p.(Thr2927Asn) NC_000005.10:151542346:G:T Identity +NM_001165966.2:c.1968C>G NP_001159438.1:p.Asn656Lys NC_000017.11:6464249:G:C p.(Asn656Lys) NC_000017.11:6464249:G:C p.(Asn656Lys) NC_000017.11:6464249:G:C Identity +NM_001284301.3:c.434G>C NP_001271230.1:p.Arg145Pro NC_000007.14:36399339:G:C p.(Arg145Pro) NC_000007.14:36399339:G:C p.(Arg145Pro) NC_000007.14:36399339:G:C Identity +NM_015180.6:c.2972A>C NP_055995.4:p.Gln991Pro NC_000014.9:63996977:A:C p.(Gln991Pro) NC_000014.9:63996977:A:C p.(Gln991Pro) NC_000014.9:63996977:A:C Identity +NM_000059.4:c.779A>C NP_000050.3:p.Glu260Ala NC_000013.11:32331015:A:C p.(Glu260Ala) NC_000013.11:32331015:A:C p.(Glu260Ala) NC_000013.11:32331015:A:C Identity +NM_000548.5:c.2525C>G NP_000539.2:p.Pro842Arg NC_000016.10:2074368:C:G p.(Pro842Arg) NC_000016.10:2074368:C:G p.(Pro842Arg) NC_000016.10:2074368:C:G Identity +NM_001194998.2:c.2603del NP_001181927.1:p.Gly868fs NC_000015.10:48760225:CCC:CC p.(Gly868GlufsTer13) NC_000015.10:48760225:CCC:CC p.(Gly868GlufsTer13) NC_000015.10:48760225:C: Analogous +NM_152443.3:c.796del NP_689656.2:p.Leu266fs NC_000014.9:67729326:CC:C p.(Leu266CysfsTer12) NC_000014.9:67729326:CC:C p.(Leu266CysfsTer12) NC_000014.9:67729327:C: Analogous +NM_001844.5:c.140G>C NP_001835.3:p.Trp47Ser NC_000012.12:48000070:C:G p.(Trp47Ser) NC_000012.12:48000070:C:G p.(Trp47Ser) NC_000012.12:48000070:C:G Identity +NM_000038.6:c.2525_2528del NP_000029.2:p.Asp842fs NC_000005.10:112838115:TAGATAG:TAG p.(Asp842ValfsTer18) NC_000005.10:112838115:TAGATAG:TAG p.(Asp842ValfsTer18) NC_000005.10:112838118:ATAG: Analogous +NM_001122681.2:c.503C>G NP_001116153.1:p.Pro168Arg NC_000004.12:2827303:C:G p.(Pro168Arg) NC_000004.12:2827303:C:G p.(Pro168Arg) NC_000004.12:2827303:C:G Identity +NM_001145412.3:c.1754A>T NP_001138884.1:p.Asp585Val NC_000002.12:177230800:T:A p.(Asp585Val) NC_000002.12:177230800:T:A p.(Asp585Val) NC_000002.12:177230800:T:A Identity +NM_000257.4:c.5030G>C NP_000248.2:p.Arg1677Pro NC_000014.9:23415755:C:G p.(Arg1677Pro) NC_000014.9:23415755:C:G p.(Arg1677Pro) NC_000014.9:23415755:C:G Identity +NM_000249.4:c.1023G>T NP_000240.1:p.Arg341Ser NC_000003.12:37020447:G:T p.(Arg341Ser) NC_000003.12:37020447:G:T p.(Arg341Ser) NC_000003.12:37020447:G:T Identity +NM_001277115.2:c.7374del NP_001264044.1:p.Lys2459fs NC_000007.14:21725917:T: p.(Lys2459ArgfsTer48) NC_000007.14:21725917:T: p.(Lys2459ArgfsTer48) NC_000007.14:21725917:T: Analogous +NM_001310338.2:c.1062A>G NP_001297267.1:p.Lys354= NC_000020.11:17990090:A:G p.(Lys354=) NC_000020.11:17990090:A:G p.(Lys354=) NC_000020.11:17990090:A:G Identity +NM_001165963.4:c.1216_1217insGC NP_001159435.1:p.Val406fs NC_000002.12:166046930::GC p.(Val406GlyfsTer10) NC_000002.12:166046929:A:GC p.(Val406GlyfsTer10) NC_000002.12:166046930:AC:GC Analogous +NM_006231.4:c.2431A>G NP_006222.2:p.Ile811Val NC_000012.12:132665338:T:C p.(Ile811Val) NC_000012.12:132665338:T:C p.(Ile811Val) NC_000012.12:132665338:T:C Identity +NM_004304.5:c.1157G>A NP_004295.2:p.Trp386Ter NC_000002.12:29383856:C:T p.(Trp386Ter) NC_000002.12:29383856:C:T p.(Trp386Ter) NC_000002.12:29383856:C:T Identity +NM_030665.4:c.1958T>C NP_109590.3:p.Val653Ala NC_000017.11:17794905:T:C p.(Val653Ala) NC_000017.11:17794905:T:C p.(Val653Ala) NC_000017.11:17794905:T:C Identity +NM_001131015.2:c.2474C>T NP_001124487.1:p.Thr825Met NC_000009.12:128166251:G:A p.(Thr825Met) NC_000009.12:128166251:G:A p.(Thr825Met) NC_000009.12:128166251:G:A Identity +NM_002471.4:c.2630AGA[1] NP_002462.2:p.Lys878del NC_000014.9:23394117:TCTTCT:TCT p.(Lys878del) NC_000014.9:23394122:T:TCT ERR:Parse ERR:Parse Identity +NM_000064.4:c.2209C>T NP_000055.2:p.Gln737Ter NC_000019.10:6707111:G:A p.(Gln737Ter) NC_000019.10:6707111:G:A p.(Gln737Ter) NC_000019.10:6707111:G:A Identity +NM_013254.4:c.935A>G NP_037386.1:p.His312Arg NC_000012.12:64481963:A:G p.(His312Arg) NC_000012.12:64481963:A:G p.(His312Arg) NC_000012.12:64481963:A:G Identity +NM_000321.3:c.1219T>C NP_000312.2:p.Cys407Arg NC_000013.11:48376920:T:C p.(Cys407Arg) NC_000013.11:48376920:T:C p.(Cys407Arg) NC_000013.11:48376920:T:C Identity +NM_000338.3:c.1419del NP_000329.2:p.Glu473fs NC_000015.10:48244869:AA:A p.(Glu473AspfsTer7) NC_000015.10:48244869:AA:A p.(Glu473AspfsTer7) NC_000015.10:48244870:A: Analogous +NM_001142800.2:c.7433T>G NP_001136272.1:p.Leu2478Arg NC_000006.12:63789202:A:C p.(Leu2478Arg) NC_000006.12:63789202:A:C p.(Leu2478Arg) NC_000006.12:63789202:A:C Identity +NM_001164617.2:c.1730A>T NP_001158089.1:p.Asn577Ile NC_000023.11:133536205:T:A p.(Asn577Ile) NC_000023.11:133536205:T:A p.(Asn577Ile) NC_000023.11:133536205:T:A Identity +NM_016941.4:c.1394_1395del NP_058637.1:p.Glu465fs NC_000019.10:39507337:GAG:G p.(Glu465ValfsTer102) NC_000019.10:39507337:GAG:G p.(Glu465ValfsTer102) NC_000019.10:39507338:AG: Analogous +NM_001039490.2:c.502G>A NP_001034579.1:p.Glu168Lys NC_000011.10:837504:G:A p.(Glu168Lys) NC_000011.10:837504:G:A p.(Glu168Lys) NC_000011.10:837504:G:A Identity +NM_000070.3:c.63del NP_000061.1:p.Pro22fs NC_000015.10:42359865:GGG:GG p.(Pro22GlnfsTer35) NC_000015.10:42359865:GGG:GG p.(Pro22GlnfsTer35) NC_000015.10:42359867:G: Analogous +NM_005477.3:c.83A>G NP_005468.1:p.Glu28Gly NC_000015.10:73368187:T:C p.(Glu28Gly) NC_000015.10:73368187:T:C p.(Glu28Gly) NC_000015.10:73368187:T:C Identity +NM_001127218.3:c.559G>A NP_001120690.1:p.Ala187Thr NC_000007.14:44117154:C:T p.(Ala187Thr) NC_000007.14:44117154:C:T p.(Ala187Thr) NC_000007.14:44117154:C:T Identity +NM_001126131.2:c.1796C>T NP_001119603.1:p.Thr599Ile NC_000015.10:89325602:G:A p.(Thr599Ile) NC_000015.10:89325602:G:A p.(Thr599Ile) NC_000015.10:89325602:G:A Identity +NM_000062.3:c.1381G>A NP_000053.2:p.Ala461Thr NC_000011.10:57614458:G:A p.(Ala461Thr) NC_000011.10:57614458:G:A p.(Ala461Thr) NC_000011.10:57614458:G:A Identity +NM_003106.4:c.328_329del NP_003097.1:p.Tyr110fs NC_000003.12:181712686:ATA:A p.(Tyr110ProfsTer14) NC_000003.12:181712686:ATA:A p.(Tyr110ProfsTer14) NC_000003.12:181712687:TA: Analogous +NM_001018037.2:c.4338_4341del NP_001018047.1:p.Met1446fs NC_000009.12:77315291:GATGGAT:GAT p.(Met1446IlefsTer2) NC_000009.12:77315291:GATGGAT:GAT p.(Met1446IlefsTer2) NC_000009.12:77315294:GGAT: Analogous +NM_015425.6:c.4333A>G NP_056240.2:p.Met1445Val NC_000002.12:86031574:T:C p.(Met1445Val) NC_000002.12:86031574:T:C p.(Met1445Val) NC_000002.12:86031574:T:C Identity +NM_001083962.2:c.1351G>C NP_001077431.1:p.Val451Leu NC_000018.10:55234682:C:G p.(Val451Leu) NC_000018.10:55234682:C:G p.(Val451Leu) NC_000018.10:55234682:C:G Identity +NM_001277115.2:c.11647C>T NP_001264044.1:p.Leu3883Phe NC_000007.14:21866619:C:T p.(Leu3883Phe) NC_000007.14:21866619:C:T p.(Leu3883Phe) NC_000007.14:21866619:C:T Identity +NM_001127207.2:c.1936dup NP_001120679.1:p.Leu646fs NC_000002.12:216450928:CC:CCC p.(Leu646ProfsTer46) NC_000002.12:216450928:CC:CCC p.(Leu646ProfsTer46) ERR:SPDI Analogous +NM_000535.7:c.1153A>C NP_000526.2:p.Ile385Leu NC_000007.14:5987611:T:G p.(Ile385Leu) NC_000007.14:5987611:T:G p.(Ile385Leu) NC_000007.14:5987611:T:G Identity +NM_004539.4:c.91A>G NP_004530.1:p.Lys31Glu NC_000018.10:57620570:T:C p.(Lys31Glu) NC_000018.10:57620570:T:C p.(Lys31Glu) NC_000018.10:57620570:T:C Identity +NM_014363.6:c.44_45del NP_055178.3:p.Pro15fs NC_000013.11:23375244:GGGG:GG p.(Pro15ArgfsTer45) NC_000013.11:23375244:GGGG:GG p.(Pro15ArgfsTer45) NC_000013.11:23375244:GG: Analogous +NM_000787.4:c.945del NP_000778.3:p.Gly316fs NC_000009.12:133644239:CC:C p.(Gly316AlafsTer24) NC_000009.12:133644239:CC:C p.(Gly316AlafsTer24) NC_000009.12:133644240:C: Analogous +NM_006231.4:c.5413_5415del NP_006222.2:p.Glu1805del NC_000012.12:132639261:CTCCT:CT p.(Glu1805del) NC_000012.12:132639261:CTCCT:CT p.(Glu1805del) NC_000012.12:132639261:CTC: Identity +NM_000037.4:c.1361A>C NP_000028.3:p.Lys454Thr NC_000008.11:41716995:T:G p.(Lys454Thr) NC_000008.11:41716995:T:G p.(Lys454Thr) NC_000008.11:41716995:T:G Identity +NM_000254.3:c.1475dup NP_000245.2:p.Ala493fs NC_000001.11:236838557:GG:GGG p.(Ala493SerfsTer9) NC_000001.11:236838557:GG:GGG p.(Ala493SerfsTer9) ERR:SPDI Analogous +NM_001141945.3:c.1102G>T NP_001135417.1:p.Gly368Trp NC_000010.11:88935254:C:A p.(Gly368Trp) NC_000010.11:88935254:C:A p.(Gly368Trp) NC_000010.11:88935254:C:A Identity +NM_001355531.2:c.398A>G NP_001342460.1:p.Lys133Arg NC_000007.14:105565408:T:C p.(Lys133Arg) NC_000007.14:105565408:T:C p.(Lys133Arg) NC_000007.14:105565408:T:C Identity +NM_012338.4:c.215G>A NP_036470.1:p.Cys72Tyr NC_000007.14:120838846:C:T p.(Cys72Tyr) NC_000007.14:120838846:C:T p.(Cys72Tyr) NC_000007.14:120838846:C:T Identity +NM_000493.4:c.1370C>T NP_000484.2:p.Pro457Leu NC_000006.12:116120745:G:A p.(Pro457Leu) NC_000006.12:116120745:G:A p.(Pro457Leu) NC_000006.12:116120745:G:A Identity +NM_005198.5:c.556del NP_005189.2:p.His186fs NC_000022.11:50581444:GGGG:GGG p.(His186ThrfsTer11) NC_000022.11:50581444:GGGG:GGG p.(His186ThrfsTer11) NC_000022.11:50581444:G: Analogous +NM_001077653.2:c.912dup NP_001071121.1:p.Gln305fs NC_000007.14:35204560:AA:AAA p.(Gln305SerfsTer23) NC_000007.14:35204560:AA:AAA p.(Gln305SerfsTer23) ERR:SPDI Analogous +NM_001127500.3:c.2317A>C NP_001120972.1:p.Ser773Arg NC_000007.14:116759388:A:C p.(Ser773Arg) NC_000007.14:116759388:A:C p.(Ser773Arg) NC_000007.14:116759388:A:C Identity +NM_001303245.3:c.582T>G NP_001290174.1:p.Tyr194Ter NC_000003.12:141553910:T:G p.(Tyr194Ter) NC_000003.12:141553910:T:G p.(Tyr194Ter) NC_000003.12:141553910:T:G Identity +NM_001005373.4:c.148G>C NP_001005373.1:p.Ala50Pro NC_000009.12:127455593:G:C p.(Ala50Pro) NC_000009.12:127455593:G:C p.(Ala50Pro) NC_000009.12:127455593:G:C Identity +NM_001127384.3:c.1107_1108delinsAC NP_001120856.1:p.Thr370Pro NC_000010.11:66775463:TC:GT p.(Thr370Pro) NC_000010.11:66775463:TC:GT p.(Thr370Pro) NC_000010.11:66775463:TC:GT Identity +NM_001007204.1:c.1773T>G NP_001007205.1:p.Tyr591Ter NC_000001.11:156876539:T:G ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001007204.1, alt_ac=NM_001007204.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001007204.1 not found +NM_005732.4:c.1078C>G NP_005723.2:p.His360Asp NC_000005.10:132588712:C:G p.(His360Asp) NC_000005.10:132588712:C:G p.(His360Asp) NC_000005.10:132588712:C:G Identity +NM_000546.6:c.1097C>A NP_000537.3:p.Ser366Tyr NC_000017.11:7670611:G:T p.(Ser366Tyr) NC_000017.11:7670611:G:T p.(Ser366Tyr) NC_000017.11:7670611:G:T Identity +NM_001040113.2:c.2691C>A NP_001035202.1:p.Asn897Lys NC_000016.10:15741651:G:T p.(Asn897Lys) NC_000016.10:15741651:G:T p.(Asn897Lys) NC_000016.10:15741651:G:T Identity +NM_001007188.4:c.1397del NP_001007189.1:p.Val466fs NC_000022.11:31810592:T: p.(Val466GlyfsTer51) NC_000022.11:31810592:T: p.(Val466GlyfsTer51) NC_000022.11:31810592:T: Analogous +NM_001376.5:c.4573G>C NP_001367.2:p.Asp1525His NC_000014.9:102002566:G:C p.(Asp1525His) NC_000014.9:102002566:G:C p.(Asp1525His) NC_000014.9:102002566:G:C Identity +NM_006208.3:c.1332del NP_006199.2:p.Asn446fs NC_000006.12:131869414:TT:T p.(Asn446IlefsTer12) NC_000006.12:131869414:TT:T p.(Asn446IlefsTer12) NC_000006.12:131869415:T: Analogous +NM_001165895.2:c.473G>T NP_001159367.1:p.Gly158Val NC_000019.10:8302883:C:A p.(Gly158Val) NC_000019.10:8302883:C:A p.(Gly158Val) NC_000019.10:8302883:C:A Identity +NM_001286577.2:c.3340del NP_001273506.1:p.Cys1114fs NC_000011.10:74093819:A: p.(Cys1114AlafsTer8) NC_000011.10:74093819:A: p.(Cys1114AlafsTer8) NC_000011.10:74093819:A: Analogous +NM_000038.6:c.2735T>C NP_000029.2:p.Leu912Ser NC_000005.10:112838328:T:C p.(Leu912Ser) NC_000005.10:112838328:T:C p.(Leu912Ser) NC_000005.10:112838328:T:C Identity +NM_001111125.3:c.3225C>G NP_001104595.1:p.Asp1075Glu NC_000023.11:53238196:G:C p.(Asp1075Glu) NC_000023.11:53238196:G:C p.(Asp1075Glu) NC_000023.11:53238196:G:C Identity +NM_015180.6:c.14938G>C NP_055995.4:p.Asp4980His NC_000014.9:64140034:G:C p.(Asp4980His) NC_000014.9:64140034:G:C p.(Asp4980His) NC_000014.9:64140034:G:C Identity +NM_001256213.2:c.2929G>T NP_001243142.1:p.Val977Leu NC_000019.10:41967686:C:A p.(Val977Leu) NC_000019.10:41967686:C:A p.(Val977Leu) NC_000019.10:41967686:C:A Identity +NM_000719.7:c.2254G>A NP_000710.5:p.Ala752Thr NC_000012.12:2584531:G:A p.(Ala752Thr) NC_000012.12:2584531:G:A p.(Ala752Thr) NC_000012.12:2584531:G:A Identity +NM_001282684.2:c.547dup NP_001269613.2:p.Val183fs NC_000022.11:37059372:G:GG p.(Val183GlyfsTer64) NC_000022.11:37059372:G:GG p.(Val183GlyfsTer64) ERR:SPDI Analogous +NM_001044385.3:c.113A>C NP_001037850.1:p.Lys38Thr NC_000002.12:201639011:T:G p.(Lys38Thr) NC_000002.12:201639011:T:G p.(Lys38Thr) NC_000002.12:201639011:T:G Identity +NM_022047.4:c.1762T>A NP_071330.3:p.Trp588Arg NC_000006.12:35321275:T:A p.(Trp588Arg) NC_000006.12:35321275:T:A p.(Trp588Arg) NC_000006.12:35321275:T:A Identity +NM_001171653.2:c.1071G>T NP_001165124.1:p.Met357Ile NC_000002.12:144400043:C:A p.(Met357Ile) NC_000002.12:144400043:C:A p.(Met357Ile) NC_000002.12:144400043:C:A Identity +NM_001256849.1:c.2531T>C NP_001243778.1:p.Val844Ala NC_000019.10:50414956:T:C p.(Val844Ala) NC_000019.10:50414956:T:C p.(Val844Ala) NC_000019.10:50414956:T:C Identity +NM_000264.5:c.1015G>A NP_000255.2:p.Glu339Lys NC_000009.12:95480020:C:T p.(Glu339Lys) NC_000009.12:95480020:C:T p.(Glu339Lys) NC_000009.12:95480020:C:T Identity +NM_001184.4:c.6719G>C NP_001175.2:p.Ser2240Thr NC_000003.12:142466501:C:G p.(Ser2240Thr) NC_000003.12:142466501:C:G p.(Ser2240Thr) NC_000003.12:142466501:C:G Identity +NM_001407571.1:c.3026dup NP_001394500.1:p.Leu1009fs NC_000017.11:43092291:AA:AAA p.(Leu1009PhefsTer6) NC_000017.11:43092291:AA:AAA p.(Leu1009PhefsTer6) ERR:SPDI Analogous +NM_004782.4:c.234del NP_004773.1:p.Glu79fs NC_000022.11:20859342:CC:C p.(Glu79ArgfsTer24) NC_000022.11:20859342:CC:C p.(Glu79ArgfsTer24) NC_000022.11:20859343:C: Analogous +NM_001145468.4:c.707C>T NP_001138940.4:p.Pro236Leu NC_000022.11:24321686:C:T p.(Pro236Leu) NC_000022.11:24321686:C:T p.(Pro236Leu) NC_000022.11:24321686:C:T Identity +NM_001369787.1:c.548C>A NP_001356716.1:p.Thr183Lys NC_000012.12:25209813:G:T p.(Thr183Lys) NC_000012.12:25209813:G:T p.(Thr183Lys) NC_000012.12:25209813:G:T Identity +NM_000057.4:c.4027C>G NP_000048.1:p.Gln1343Glu NC_000015.10:90811356:C:G p.(Gln1343Glu) NC_000015.10:90811356:C:G p.(Gln1343Glu) NC_000015.10:90811356:C:G Identity +NM_000334.4:c.2135T>A NP_000325.4:p.Phe712Tyr NC_000017.11:63957402:A:T p.(Phe712Tyr) NC_000017.11:63957402:A:T p.(Phe712Tyr) NC_000017.11:63957402:A:T Identity +NM_001037333.3:c.2108A>G NP_001032410.1:p.Tyr703Cys NC_000005.10:157328000:A:G p.(Tyr703Cys) NC_000005.10:157328000:A:G p.(Tyr703Cys) NC_000005.10:157328000:A:G Identity +NM_001207000.1:c.923C>T NP_001193929.1:p.Ala308Val NC_000004.12:82427287:G:A p.(Ala308Val) NC_000004.12:82427287:G:A p.(Ala308Val) NC_000004.12:82427287:G:A Identity +NM_003124.5:c.262del NP_003115.1:p.Arg88fs NC_000002.12:72887689:CCCCC:CCCC p.(Arg88GlyfsTer27) NC_000002.12:72887689:CCCCC:CCCC p.(Arg88GlyfsTer27) NC_000002.12:72887693:C: Analogous +NM_002470.4:c.5531A>T NP_002461.2:p.Tyr1844Phe NC_000017.11:10630122:T:A p.(Tyr1844Phe) NC_000017.11:10630122:T:A p.(Tyr1844Phe) NC_000017.11:10630122:T:A Identity +NM_001197104.2:c.6863C>T NP_001184033.1:p.Ser2288Phe NC_000011.10:118502754:C:T p.(Ser2288Phe) NC_000011.10:118502754:C:T p.(Ser2288Phe) NC_000011.10:118502754:C:T Identity +NM_001846.4:c.109A>C NP_001837.2:p.Lys37Gln NC_000013.11:110357480:A:C p.(Lys37Gln) NC_000013.11:110357480:A:C p.(Lys37Gln) NC_000013.11:110357480:A:C Identity +NM_198834.3:c.2207G>A NP_942131.1:p.Gly736Asp NC_000017.11:37248112:C:T p.(Gly736Asp) NC_000017.11:37248112:C:T p.(Gly736Asp) NC_000017.11:37248112:C:T Identity +NM_206933.4:c.11813A>G NP_996816.3:p.Tyr3938Cys NC_000001.11:215728282:T:C p.(Tyr3938Cys) NC_000001.11:215728282:T:C p.(Tyr3938Cys) NC_000001.11:215728282:T:C Identity +NM_001040108.2:c.552del NP_001035197.1:p.Ile185fs NC_000014.9:75049103:GG:G p.(Ile185PhefsTer5) NC_000014.9:75049103:GG:G p.(Ile185PhefsTer5) NC_000014.9:75049103:G: Analogous +NM_014599.6:c.341A>G NP_055414.2:p.Gln114Arg NC_000023.11:54810016:A:G p.(Gln114Arg) NC_000023.11:54810016:A:G p.(Gln114Arg) NC_000023.11:54810016:A:G Identity +NM_001105206.3:c.550T>G NP_001098676.2:p.Cys184Gly NC_000006.12:112191803:A:C p.(Cys184Gly) NC_000006.12:112191803:A:C p.(Cys184Gly) NC_000006.12:112191803:A:C Identity +NM_001193465.2:c.3148G>A NP_001180394.1:p.Glu1050Lys NC_000017.11:46031642:C:T p.(Glu1050Lys) NC_000017.11:46031642:C:T p.(Glu1050Lys) NC_000017.11:46031642:C:T Identity +NM_001318193.2:c.530T>G NP_001305122.2:p.Val177Gly NC_000016.10:2040222:A:C p.(Val177Gly) NC_000016.10:2040222:A:C p.(Val177Gly) NC_000016.10:2040222:A:C Identity +NM_001320759.2:c.2660G>A NP_001307688.1:p.Arg887Gln NC_000017.11:18274862:C:T p.(Arg887Gln) NC_000017.11:18274862:C:T p.(Arg887Gln) NC_000017.11:18274862:C:T Identity +NM_001081676.2:c.258T>G NP_001075145.1:p.Asn86Lys NC_000002.12:165176136:A:C p.(Asn86Lys) NC_000002.12:165176136:A:C p.(Asn86Lys) NC_000002.12:165176136:A:C Identity +NM_001424109.1:c.173C>T NP_001411038.1:p.Pro58Leu NC_000006.12:33184244:G:A p.(Pro58Leu) NC_000006.12:33184244:G:A p.(Pro58Leu) NC_000006.12:33184244:G:A Identity +NM_001033855.3:c.655del NP_001029027.1:p.Ser220fs NC_000010.11:14934402:GG:G p.(Ser220ValfsTer4) NC_000010.11:14934402:GG:G p.(Ser220ValfsTer4) NC_000010.11:14934402:G: Analogous +NM_001365819.1:c.2660G>A NP_001352748.1:p.Arg887Gln NC_000022.11:50461704:C:T p.(Arg887Gln) NC_000022.11:50461704:C:T p.(Arg887Gln) NC_000022.11:50461704:C:T Identity +NM_001253698.2:c.3376C>A NP_001240627.1:p.Pro1126Thr NC_000005.10:66054693:C:A p.(Pro1126Thr) NC_000005.10:66054693:C:A p.(Pro1126Thr) NC_000005.10:66054693:C:A Identity +NM_001278464.2:c.1726A>G NP_001265393.1:p.Ser576Gly NC_000012.12:32738275:A:G p.(Ser576Gly) NC_000012.12:32738275:A:G p.(Ser576Gly) NC_000012.12:32738275:A:G Identity +NM_138694.4:c.1356C>G NP_619639.3:p.Tyr452Ter NC_000006.12:52058478:G:C p.(Tyr452Ter) NC_000006.12:52058478:G:C p.(Tyr452Ter) NC_000006.12:52058478:G:C Identity +NM_000038.6:c.954G>T NP_000029.2:p.Leu318Phe NC_000005.10:112818985:G:T p.(Leu318Phe) NC_000005.10:112818985:G:T p.(Leu318Phe) NC_000005.10:112818985:G:T Identity +NM_003737.4:c.3142G>C NP_003728.1:p.Glu1048Gln NC_000011.10:6632369:C:G p.(Glu1048Gln) NC_000011.10:6632369:C:G p.(Glu1048Gln) NC_000011.10:6632369:C:G Identity +NM_000109.4:c.656C>G NP_000100.3:p.Ser219Cys NC_000023.11:32699262:G:C p.(Ser219Cys) NC_000023.11:32699262:G:C p.(Ser219Cys) NC_000023.11:32699262:G:C Identity +NM_001135649.3:c.276_278del NP_001129121.1:p.Phe92del NC_000002.12:88452257:AGAA:A p.(Phe92del) NC_000002.12:88452257:AGAA:A p.(Phe92del) NC_000002.12:88452257:AGA: Identity +NM_001184.4:c.2119T>G NP_001175.2:p.Phe707Val NC_000003.12:142556098:A:C p.(Phe707Val) NC_000003.12:142556098:A:C p.(Phe707Val) NC_000003.12:142556098:A:C Identity +NM_006766.5:c.3628A>G NP_006757.2:p.Thr1210Ala NC_000008.11:41934591:T:C p.(Thr1210Ala) NC_000008.11:41934591:T:C p.(Thr1210Ala) NC_000008.11:41934591:T:C Identity +NM_000546.6:c.567_577del NP_000537.3:p.Pro190fs NC_000017.11:7674953:GCTGAGGAGGGGC:GC p.(Pro190SerfsTer15) NC_000017.11:7674953:GCTGAGGAGGGGC:GC p.(Pro190SerfsTer15) NC_000017.11:7674953:GCTGAGGAGGG: Analogous +NM_004655.4:c.1899del NP_004646.3:p.Lys633fs NC_000017.11:65536876:C: p.(Lys633AsnfsTer56) NC_000017.11:65536876:C: p.(Lys633AsnfsTer56) NC_000017.11:65536876:C: Analogous +NM_017570.5:c.2677C>T NP_060040.1:p.Gln893Ter NC_000008.11:144054569:G:A p.(Gln893Ter) NC_000008.11:144054569:G:A p.(Gln893Ter) NC_000008.11:144054569:G:A Identity +NM_001060.6:c.274C>T NP_001051.1:p.Leu92Phe NC_000019.10:3600360:G:A p.(Leu92Phe) NC_000019.10:3600360:G:A p.(Leu92Phe) NC_000019.10:3600360:G:A Identity +NM_001015051.4:c.1062C>G NP_001015051.3:p.Phe354Leu NC_000006.12:45546866:C:G p.(Phe354Leu) NC_000006.12:45546866:C:G p.(Phe354Leu) NC_000006.12:45546866:C:G Identity +NM_001407571.1:c.4315A>C NP_001394500.1:p.Met1439Leu NC_000017.11:43074477:T:G p.(Met1439Leu) NC_000017.11:43074477:T:G p.(Met1439Leu) NC_000017.11:43074477:T:G Identity +NM_003901.4:c.397_401del NP_003892.2:p.Tyr133fs NC_000010.11:70854840:AGTACAG:AG p.(Tyr133LeufsTer24) NC_000010.11:70854840:AGTACAG:AG p.(Tyr133LeufsTer24) NC_000010.11:70854842:TACAG: Analogous +NM_001168249.1:c.5012A>T NP_001161721.1:p.Asp1671Val NC_000001.11:102878079:T:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_002439.5:c.2304G>A NP_002430.3:p.Trp768Ter NC_000005.10:80775743:G:A p.(Trp768Ter) NC_000005.10:80775743:G:A p.(Trp768Ter) NC_000005.10:80775743:G:A Identity +NM_000245.4:c.1657A>T NP_000236.2:p.Ser553Cys NC_000007.14:116740980:A:T p.(Ser553Cys) NC_000007.14:116740980:A:T p.(Ser553Cys) NC_000007.14:116740980:A:T Identity +NM_006231.4:c.3436A>G NP_006222.2:p.Thr1146Ala NC_000012.12:132657371:T:C p.(Thr1146Ala) NC_000012.12:132657371:T:C p.(Thr1146Ala) NC_000012.12:132657371:T:C Identity +NM_001032289.3:c.68dup NP_001027460.1:p.Leu23fs NC_000023.11:48911568:AA:AAA p.(Leu23PhefsTer71) NC_000023.11:48911568:AA:AAA p.(Leu23PhefsTer71) ERR:SPDI Analogous +NM_000368.5:c.222C>G NP_000359.1:p.Asp74Glu NC_000009.12:132925727:G:C p.(Asp74Glu) NC_000009.12:132925727:G:C p.(Asp74Glu) NC_000009.12:132925727:G:C Identity +NM_001160036.2:c.1144G>A NP_001153508.1:p.Ala382Thr NC_000008.11:23007322:G:A p.(Ala382Thr) NC_000008.11:23007322:G:A p.(Ala382Thr) NC_000008.11:23007322:G:A Identity +NM_001169109.2:c.387_388del NP_001162580.1:p.Phe130fs NC_000022.11:50524023:AG: p.(Phe130HisfsTer5) NC_000022.11:50524023:AG: p.(Phe130HisfsTer5) NC_000022.11:50524023:AG: Analogous +NM_001042467.3:c.318del NP_001035932.1:p.Cys107fs NC_000002.12:237510777:CCCC:CCC p.(Cys107AlafsTer7) NC_000002.12:237510777:CCCC:CCC p.(Cys107AlafsTer7) NC_000002.12:237510780:C: Analogous +NM_000135.4:c.4250_4251del NP_000126.2:p.His1417fs NC_000016.10:89738890:GTGTG:GTG p.(His1417ArgfsTer7) NC_000016.10:89738890:GTGTG:GTG p.(His1417ArgfsTer7) NC_000016.10:89738890:GT: Analogous +NM_001190981.2:c.113T>C NP_001177910.1:p.Val38Ala NC_000005.10:55969806:A:G p.(Val38Ala) NC_000005.10:55969806:A:G p.(Val38Ala) NC_000005.10:55969806:A:G Identity +NM_005249.5:c.459_460del NP_005240.3:p.Glu154fs NC_000014.9:28767732:GGGGGGG:GGGGG p.(Glu154GlyfsTer300) NC_000014.9:28767732:GGGGGGG:GGGGG p.(Glu154GlyfsTer300) NC_000014.9:28767737:GG: Analogous +NM_001346850.2:c.1390G>T NP_001333779.1:p.Asp464Tyr NC_000012.12:7070474:G:T p.(Asp464Tyr) NC_000012.12:7070474:G:T p.(Asp464Tyr) NC_000012.12:7070474:G:T Identity +NM_001002019.3:c.725A>T NP_001002019.1:p.Glu242Val NC_000012.12:131941555:A:T p.(Glu242Val) NC_000012.12:131941555:A:T p.(Glu242Val) NC_000012.12:131941555:A:T Identity +NM_000836.4:c.3968G>T NP_000827.2:p.Arg1323Leu NC_000019.10:48443893:G:T p.(Arg1323Leu) NC_000019.10:48443893:G:T p.(Arg1323Leu) NC_000019.10:48443893:G:T Identity +NM_001350935.2:c.617T>G NP_001337864.1:p.Phe206Cys NC_000012.12:122481971:A:C p.(Phe206Cys) NC_000012.12:122481971:A:C p.(Phe206Cys) NC_000012.12:122481971:A:C Identity +NM_001097577.3:c.117_118insCA NP_001091046.1:p.Ala40fs NC_000014.9:20693681::CA p.(Ala40GlnfsTer16) NC_000014.9:20693680:T:CA p.(Ala40GlnfsTer16) NC_000014.9:20693681:TG:CA Analogous +NM_001321309.2:c.2070del NP_001308238.1:p.Glu691fs NC_000003.12:123700869:G: p.(Glu691ArgfsTer7) NC_000003.12:123700869:G: p.(Glu691ArgfsTer7) NC_000003.12:123700869:G: Analogous +NM_004525.3:c.702C>A NP_004516.2:p.Cys234Ter NC_000002.12:169292319:G:T p.(Cys234Ter) NC_000002.12:169292319:G:T p.(Cys234Ter) NC_000002.12:169292319:G:T Identity +NM_001008389.3:c.679G>C NP_001008390.1:p.Ala227Pro NC_000016.10:20348621:C:G p.(Ala227Pro) NC_000016.10:20348621:C:G p.(Ala227Pro) NC_000016.10:20348621:C:G Identity +NM_001135649.3:c.533G>C NP_001129121.1:p.Ser178Thr NC_000002.12:88452002:C:G p.(Ser178Thr) NC_000002.12:88452002:C:G p.(Ser178Thr) NC_000002.12:88452002:C:G Identity +NM_001184900.3:c.706G>T NP_001171829.1:p.Asp236Tyr NC_000019.10:48230842:C:A p.(Asp236Tyr) NC_000019.10:48230842:C:A p.(Asp236Tyr) NC_000019.10:48230842:C:A Identity +NM_017767.3:c.143del NP_060237.3:p.Gly48fs NC_000008.11:144416065:CCC:CC p.(Gly48AlafsTer64) NC_000008.11:144416065:CCC:CC p.(Gly48AlafsTer64) NC_000008.11:144416065:C: Analogous +NM_001033053.3:c.3300C>G NP_001028225.1:p.Asn1100Lys NC_000017.11:5532829:G:C p.(Asn1100Lys) NC_000017.11:5532829:G:C p.(Asn1100Lys) NC_000017.11:5532829:G:C Identity +NM_000057.4:c.1079A>G NP_000048.1:p.Asp360Gly NC_000015.10:90754929:A:G p.(Asp360Gly) NC_000015.10:90754929:A:G p.(Asp360Gly) NC_000015.10:90754929:A:G Identity +NM_001277115.2:c.12778G>A NP_001264044.1:p.Glu4260Lys NC_000007.14:21894649:G:A p.(Glu4260Lys) NC_000007.14:21894649:G:A p.(Glu4260Lys) NC_000007.14:21894649:G:A Identity +NM_001849.4:c.1378G>A NP_001840.3:p.Gly460Ser NC_000021.9:46120559:G:A p.(Gly460Ser) NC_000021.9:46120559:G:A p.(Gly460Ser) NC_000021.9:46120559:G:A Identity +NM_207361.6:c.1162C>A NP_997244.4:p.Leu388Met NC_000013.11:38688505:C:A p.(Leu388Met) NC_000013.11:38688505:C:A p.(Leu388Met) NC_000013.11:38688505:C:A Identity +NM_001352496.2:c.3G>A NP_001339425.1:p.Met1Ile NC_000007.14:97869153:C:T p.(Met1Ile) NC_000007.14:97869153:C:T p.Met1? NC_000007.14:97869153:C:T Identity +NM_017890.5:c.6404_6405del NP_060360.3:p.Ser2135fs NC_000008.11:99699805:TCT:T p.(Ser2135CysfsTer33) NC_000008.11:99699805:TCT:T p.(Ser2135CysfsTer33) NC_000008.11:99699806:CT: Analogous +NM_000322.5:c.326A>G NP_000313.2:p.Asn109Ser NC_000006.12:42722008:T:C p.(Asn109Ser) NC_000006.12:42722008:T:C p.(Asn109Ser) NC_000006.12:42722008:T:C Identity +NM_001350234.2:c.1009G>C NP_001337163.1:p.Glu337Gln NC_000001.11:9717614:G:C p.(Glu337Gln) NC_000001.11:9717614:G:C p.(Glu337Gln) NC_000001.11:9717614:G:C Identity +NM_001037131.3:c.2489G>C NP_001032208.1:p.Arg830Pro NC_000002.12:236124036:G:C p.(Arg830Pro) NC_000002.12:236124036:G:C p.(Arg830Pro) NC_000002.12:236124036:G:C Identity +NM_024408.4:c.4310G>A NP_077719.2:p.Gly1437Asp NC_000001.11:119925505:C:T p.(Gly1437Asp) NC_000001.11:119925505:C:T p.(Gly1437Asp) NC_000001.11:119925505:C:T Identity +NM_001407041.1:c.208_215del NP_001393970.1:p.Lys70fs NC_000018.10:51047251:GTAAATGTGT:GT p.(Lys70TyrfsTer31) NC_000018.10:51047251:GTAAATGTGT:GT p.(Lys70TyrfsTer31) NC_000018.10:51047253:AAATGTGT: Analogous +NM_000038.6:c.4646A>C NP_000029.2:p.Gln1549Pro NC_000005.10:112840239:A:C p.(Gln1549Pro) NC_000005.10:112840239:A:C p.(Gln1549Pro) NC_000005.10:112840239:A:C Identity +NM_000238.4:c.2742_2775del NP_000229.1:p.Ala915fs NC_000007.14:150947795:CCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCC:CCC p.(Ala915ArgfsTer48) NC_000007.14:150947795:CCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCC:CCC p.(Ala915ArgfsTer48) NC_000007.14:150947795:CCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC: Analogous +NM_001257374.3:c.564C>T NP_001244303.1:p.Asp188= NC_000001.11:156135275:C:T p.(Asp188=) NC_000001.11:156135275:C:T p.(Asp188=) NC_000001.11:156135275:C:T Identity +NM_000038.6:c.7071G>T NP_000029.2:p.Lys2357Asn NC_000005.10:112842664:G:T p.(Lys2357Asn) NC_000005.10:112842664:G:T p.(Lys2357Asn) NC_000005.10:112842664:G:T Identity +NM_001035.3:c.8231G>A NP_001026.2:p.Gly2744Glu NC_000001.11:237660006:G:A p.(Gly2744Glu) NC_000001.11:237660006:G:A p.(Gly2744Glu) NC_000001.11:237660006:G:A Identity +NM_000553.6:c.3445G>C NP_000544.2:p.Glu1149Gln NC_000008.11:31147113:G:C p.(Glu1149Gln) NC_000008.11:31147113:G:C p.(Glu1149Gln) NC_000008.11:31147113:G:C Identity +NM_001425749.1:c.2935C>G NP_001412678.1:p.Gln979Glu NC_000016.10:81936260:C:G p.(Gln979Glu) NC_000016.10:81936260:C:G p.(Gln979Glu) NC_000016.10:81936260:C:G Identity +NM_001321309.2:c.136G>A NP_001308238.1:p.Gly46Arg NC_000003.12:123737467:C:T p.(Gly46Arg) NC_000003.12:123737467:C:T p.(Gly46Arg) NC_000003.12:123737467:C:T Identity +NM_001003800.2:c.1295C>T NP_001003800.1:p.Pro432Leu NC_000009.12:92719349:G:A p.(Pro432Leu) NC_000009.12:92719349:G:A p.(Pro432Leu) NC_000009.12:92719349:G:A Identity +NM_000244.4:c.46A>T NP_000235.3:p.Ile16Phe NC_000011.10:64810063:T:A p.(Ile16Phe) NC_000011.10:64810063:T:A p.(Ile16Phe) NC_000011.10:64810063:T:A Identity +NM_015180.6:c.14703A>T NP_055995.4:p.Glu4901Asp NC_000014.9:64137842:A:T p.(Glu4901Asp) NC_000014.9:64137842:A:T p.(Glu4901Asp) NC_000014.9:64137842:A:T Identity +NM_000118.4:c.982T>A NP_000109.1:p.Ser328Thr NC_000009.12:127824808:A:T p.(Ser328Thr) NC_000009.12:127824808:A:T p.(Ser328Thr) NC_000009.12:127824808:A:T Identity +NM_001033053.3:c.206_209dup NP_001028225.1:p.Leu71fs NC_000017.11:5583748:GCTAG:GCTAGCTAG p.(Leu71SerfsTer33) NC_000017.11:5583748:GCTAG:GCTAGCTAG p.(Leu71SerfsTer33) ERR:SPDI Analogous +NM_001098209.2:c.431A>G NP_001091679.1:p.Asp144Gly NC_000003.12:41225142:A:G p.(Asp144Gly) NC_000003.12:41225142:A:G p.(Asp144Gly) NC_000003.12:41225142:A:G Identity +NM_000368.5:c.2932C>T NP_000359.1:p.Leu978Phe NC_000009.12:132897226:G:A p.(Leu978Phe) NC_000009.12:132897226:G:A p.(Leu978Phe) NC_000009.12:132897226:G:A Identity +NM_001320974.2:c.416dup NP_001307903.1:p.Thr140fs NC_000010.11:99727133:A:AA p.(Thr140AspfsTer75) NC_000010.11:99727133:A:AA p.(Thr140AspfsTer75) ERR:SPDI Analogous +NM_001257197.2:c.409G>T NP_001244126.1:p.Glu137Ter NC_000002.12:224513570:C:A p.(Glu137Ter) NC_000002.12:224513570:C:A p.(Glu137Ter) NC_000002.12:224513570:C:A Identity +NM_000109.4:c.9676C>G NP_000100.3:p.Leu3226Val NC_000023.11:31204067:G:C p.(Leu3226Val) NC_000023.11:31204067:G:C p.(Leu3226Val) NC_000023.11:31204067:G:C Identity +NM_001142864.4:c.4945C>G NP_001136336.2:p.Leu1649Val NC_000016.10:88722227:G:C p.(Leu1649Val) NC_000016.10:88722227:G:C p.(Leu1649Val) NC_000016.10:88722227:G:C Identity +NM_000109.4:c.5436T>A NP_000100.3:p.Asn1812Lys NC_000023.11:32346068:A:T p.(Asn1812Lys) NC_000023.11:32346068:A:T p.(Asn1812Lys) NC_000023.11:32346068:A:T Identity +NM_001134363.3:c.520C>A NP_001127835.2:p.Pro174Thr NC_000010.11:110781128:C:A p.(Pro174Thr) NC_000010.11:110781128:C:A p.(Pro174Thr) NC_000010.11:110781128:C:A Identity +NM_000218.3:c.1634A>T NP_000209.2:p.Tyr545Phe NC_000011.10:2776002:A:T p.(Tyr545Phe) NC_000011.10:2776002:A:T p.(Tyr545Phe) NC_000011.10:2776002:A:T Identity +NM_020338.4:c.1501C>T NP_065071.1:p.Pro501Ser NC_000010.11:79298414:C:T p.(Pro501Ser) NC_000010.11:79298414:C:T p.(Pro501Ser) NC_000010.11:79298414:C:T Identity +NM_001282368.2:c.1105G>A NP_001269297.1:p.Ala369Thr NC_000006.12:75951046:C:T p.(Ala369Thr) NC_000006.12:75951046:C:T p.(Ala369Thr) NC_000006.12:75951046:C:T Identity +NM_001304420.3:c.1696_1698del NP_001291349.1:p.Lys566del NC_000003.12:57912425:AGAAG:AG p.(Lys566del) NC_000003.12:57912425:AGAAG:AG p.(Lys566del) NC_000003.12:57912427:AAG: Identity +NM_006231.4:c.3976A>C NP_006222.2:p.Ile1326Leu NC_000012.12:132649334:T:G p.(Ile1326Leu) NC_000012.12:132649334:T:G p.(Ile1326Leu) NC_000012.12:132649334:T:G Identity +NM_001040113.2:c.3762G>C NP_001035202.1:p.Lys1254Asn NC_000016.10:15726964:C:G p.(Lys1254Asn) NC_000016.10:15726964:C:G p.(Lys1254Asn) NC_000016.10:15726964:C:G Identity +NM_000339.3:c.1218_1219del NP_000330.3:p.Asn406fs NC_000016.10:56879109:TG: p.(Asn406LysfsTer118) NC_000016.10:56879109:TG: p.(Asn406LysfsTer118) NC_000016.10:56879109:TG: Analogous +NM_000264.5:c.3539C>T NP_000255.2:p.Pro1180Leu NC_000009.12:95449850:G:A p.(Pro1180Leu) NC_000009.12:95449850:G:A p.(Pro1180Leu) NC_000009.12:95449850:G:A Identity +NM_000138.5:c.7372A>G NP_000129.3:p.Ile2458Val NC_000015.10:48425449:T:C p.(Ile2458Val) NC_000015.10:48425449:T:C p.(Ile2458Val) NC_000015.10:48425449:T:C Identity +NM_001002294.3:c.1478C>T NP_001002294.1:p.Ser493Leu NC_000001.11:171117320:C:T p.(Ser493Leu) NC_000001.11:171117320:C:T p.(Ser493Leu) NC_000001.11:171117320:C:T Identity +NM_002470.4:c.47TCC[1] NP_002461.2:p.Leu17del NC_000017.11:10655012:GGAGGA:GGA p.(Leu17del) NC_000017.11:10655017:A:GGA ERR:Parse ERR:Parse Identity +NM_000238.4:c.3003G>T NP_000229.1:p.Trp1001Cys NC_000007.14:150947476:C:A p.(Trp1001Cys) NC_000007.14:150947476:C:A p.(Trp1001Cys) NC_000007.14:150947476:C:A Identity +NM_001048174.2:c.79A>G NP_001041639.1:p.Lys27Glu NC_000001.11:45334426:T:C p.(Lys27Glu) NC_000001.11:45334426:T:C p.(Lys27Glu) NC_000001.11:45334426:T:C Identity +NM_000038.6:c.6238T>G NP_000029.2:p.Leu2080Val NC_000005.10:112841831:T:G p.(Leu2080Val) NC_000005.10:112841831:T:G p.(Leu2080Val) NC_000005.10:112841831:T:G Identity +NM_000238.4:c.1442A>T NP_000229.1:p.Glu481Val NC_000007.14:150952539:T:A p.(Glu481Val) NC_000007.14:150952539:T:A p.(Glu481Val) NC_000007.14:150952539:T:A Identity +NM_000527.5:c.380T>C NP_000518.1:p.Val127Ala NC_000019.10:11105285:T:C p.(Val127Ala) NC_000019.10:11105285:T:C p.(Val127Ala) NC_000019.10:11105285:T:C Identity +NM_000527.5:c.431C>G NP_000518.1:p.Pro144Arg NC_000019.10:11105336:C:G p.(Pro144Arg) NC_000019.10:11105336:C:G p.(Pro144Arg) NC_000019.10:11105336:C:G Identity +NM_000527.5:c.449C>A NP_000518.1:p.Pro150His NC_000019.10:11105354:C:A p.(Pro150His) NC_000019.10:11105354:C:A p.(Pro150His) NC_000019.10:11105354:C:A Identity +NM_000527.5:c.2536_2538del NP_000518.1:p.Ser846del NC_000019.10:11129657:CAGC:C p.(Ser846del) NC_000019.10:11129657:CAGC:C p.(Ser846del) NC_000019.10:11129658:AGC: Identity +NM_000256.3:c.3686T>C NP_000247.2:p.Met1229Thr NC_000011.10:47332199:A:G p.(Met1229Thr) NC_000011.10:47332199:A:G p.(Met1229Thr) NC_000011.10:47332199:A:G Identity +NM_001040113.2:c.2027G>A NP_001035202.1:p.Arg676His NC_000016.10:15750189:C:T p.(Arg676His) NC_000016.10:15750189:C:T p.(Arg676His) NC_000016.10:15750189:C:T Identity +NM_000257.4:c.2021_2022del NP_000248.2:p.Ile674fs NC_000014.9:23426798:GA: p.(Ile674ThrfsTer2) NC_000014.9:23426798:GA: p.(Ile674ThrfsTer2) NC_000014.9:23426798:GA: Analogous +NM_000257.4:c.1276G>A NP_000248.2:p.Ala426Thr NC_000014.9:23429085:C:T p.(Ala426Thr) NC_000014.9:23429085:C:T p.(Ala426Thr) NC_000014.9:23429085:C:T Identity +NM_001407296.1:c.1303A>T NP_001394225.1:p.Asn435Tyr NC_000016.10:23635182:T:A p.(Asn435Tyr) NC_000016.10:23635182:T:A p.(Asn435Tyr) NC_000016.10:23635182:T:A Identity +NM_001040633.2:c.1262A>G NP_001035723.1:p.Glu421Gly NC_000007.14:151565724:T:C p.(Glu421Gly) NC_000007.14:151565724:T:C p.(Glu421Gly) NC_000007.14:151565724:T:C Identity +NM_000257.4:c.3323T>C NP_000248.2:p.Leu1108Pro NC_000014.9:23420970:A:G p.(Leu1108Pro) NC_000014.9:23420970:A:G p.(Leu1108Pro) NC_000014.9:23420970:A:G Identity +NM_000258.3:c.551A>G NP_000249.1:p.Asn184Ser NC_000003.12:46858391:T:C p.(Asn184Ser) NC_000003.12:46858391:T:C p.(Asn184Ser) NC_000003.12:46858391:T:C Identity +NM_000051.4:c.1560C>G NP_000042.3:p.Asp520Glu NC_000011.10:108251024:C:G p.(Asp520Glu) NC_000011.10:108251024:C:G p.(Asp520Glu) NC_000011.10:108251024:C:G Identity +NM_000051.4:c.1943T>G NP_000042.3:p.Val648Gly NC_000011.10:108253857:T:G p.(Val648Gly) NC_000011.10:108253857:T:G p.(Val648Gly) NC_000011.10:108253857:T:G Identity +NM_000051.4:c.423T>A NP_000042.3:p.Cys141Ter NC_000011.10:108235760:T:A p.(Cys141Ter) NC_000011.10:108235760:T:A p.(Cys141Ter) NC_000011.10:108235760:T:A Identity +NM_000257.4:c.1764C>A NP_000248.2:p.Tyr588Ter NC_000014.9:23427708:G:T p.(Tyr588Ter) NC_000014.9:23427708:G:T p.(Tyr588Ter) NC_000014.9:23427708:G:T Identity +NM_001407296.1:c.2130C>G NP_001394225.1:p.Ile710Met NC_000016.10:23629963:G:C p.(Ile710Met) NC_000016.10:23629963:G:C p.(Ile710Met) NC_000016.10:23629963:G:C Identity +NM_000535.7:c.143A>T NP_000526.2:p.Asp48Val NC_000007.14:6005911:T:A p.(Asp48Val) NC_000007.14:6005911:T:A p.(Asp48Val) NC_000007.14:6005911:T:A Identity +NM_001005242.3:c.2348C>T NP_001005242.2:p.Ala783Val NC_000012.12:32796117:G:A p.(Ala783Val) NC_000012.12:32796117:G:A p.(Ala783Val) NC_000012.12:32796117:G:A Identity +NM_000051.4:c.1499T>C NP_000042.3:p.Ile500Thr NC_000011.10:108250963:T:C p.(Ile500Thr) NC_000011.10:108250963:T:C p.(Ile500Thr) NC_000011.10:108250963:T:C Identity +NM_001035.3:c.11376C>G NP_001026.2:p.Ser3792Arg NC_000001.11:237759825:C:G p.(Ser3792Arg) NC_000001.11:237759825:C:G p.(Ser3792Arg) NC_000001.11:237759825:C:G Identity +NM_001407274.1:c.685A>G NP_001394203.1:p.Ser229Gly NC_000003.12:14134867:A:G p.(Ser229Gly) NC_000003.12:14134867:A:G p.(Ser229Gly) NC_000003.12:14134867:A:G Identity +NM_001035.3:c.4556C>T NP_001026.2:p.Thr1519Ile NC_000001.11:237595616:C:T p.(Thr1519Ile) NC_000001.11:237595616:C:T p.(Thr1519Ile) NC_000001.11:237595616:C:T Identity +NM_001407041.1:c.383_384del NP_001393970.1:p.Val128fs NC_000018.10:51048814:TGTGTG:TGTG p.(Val128GlufsTer14) NC_000018.10:51048814:TGTGTG:TGTG p.(Val128GlufsTer14) NC_000018.10:51048818:TG: Analogous +NM_001024847.3:c.334G>C NP_001020018.1:p.Val112Leu NC_000003.12:30644910:G:C p.(Val112Leu) NC_000003.12:30644910:G:C p.(Val112Leu) NC_000003.12:30644910:G:C Identity +NM_000335.5:c.3203G>A NP_000326.2:p.Gly1068Asp NC_000003.12:38580955:C:T p.(Gly1068Asp) NC_000003.12:38580955:C:T p.(Gly1068Asp) NC_000003.12:38580955:C:T Identity +NM_000335.5:c.1781C>T NP_000326.2:p.Thr594Ile NC_000003.12:38603820:G:A p.(Thr594Ile) NC_000003.12:38603820:G:A p.(Thr594Ile) NC_000003.12:38603820:G:A Identity +NM_001035.3:c.2573C>A NP_001026.2:p.Thr858Lys NC_000001.11:237503464:C:A p.(Thr858Lys) NC_000001.11:237503464:C:A p.(Thr858Lys) NC_000001.11:237503464:C:A Identity +NM_001410772.1:c.1279A>G NP_001397701.1:p.Ile427Val NC_000003.12:52403811:T:C p.(Ile427Val) NC_000003.12:52403811:T:C p.(Ile427Val) NC_000003.12:52403811:T:C Identity +NM_001410772.1:c.1082C>T NP_001397701.1:p.Ala361Val NC_000003.12:52404566:G:A p.(Ala361Val) NC_000003.12:52404566:G:A p.(Ala361Val) NC_000003.12:52404566:G:A Identity +NM_032043.3:c.3396T>G NP_114432.2:p.Phe1132Leu NC_000017.11:61683649:A:C p.(Phe1132Leu) NC_000017.11:61683649:A:C p.(Phe1132Leu) NC_000017.11:61683649:A:C Identity +NM_032043.3:c.1600C>T NP_114432.2:p.Leu534Phe NC_000017.11:61784297:G:A p.(Leu534Phe) NC_000017.11:61784297:G:A p.(Leu534Phe) NC_000017.11:61784297:G:A Identity +NM_001317184.2:c.1544C>A NP_001304113.1:p.Thr515Asn NC_000016.10:68822015:C:A p.(Thr515Asn) NC_000016.10:68822015:C:A p.(Thr515Asn) NC_000016.10:68822015:C:A Identity +NM_001943.5:c.2539A>G NP_001934.2:p.Ile847Val NC_000018.10:31545924:A:G p.(Ile847Val) NC_000018.10:31545924:A:G p.(Ile847Val) NC_000018.10:31545924:A:G Identity +NM_000038.6:c.5586G>T NP_000029.2:p.Leu1862Phe NC_000005.10:112841179:G:T p.(Leu1862Phe) NC_000005.10:112841179:G:T p.(Leu1862Phe) NC_000005.10:112841179:G:T Identity +NM_001008844.3:c.6221A>T NP_001008844.1:p.Asp2074Val NC_000006.12:7585279:A:T p.(Asp2074Val) NC_000006.12:7585279:A:T p.(Asp2074Val) NC_000006.12:7585279:A:T Identity +NM_001008844.3:c.6814C>T NP_001008844.1:p.His2272Tyr NC_000006.12:7585872:C:T p.(His2272Tyr) NC_000006.12:7585872:C:T p.(His2272Tyr) NC_000006.12:7585872:C:T Identity +NM_006445.4:c.6286G>A NP_006436.3:p.Asp2096Asn NC_000017.11:1653624:C:T p.(Asp2096Asn) NC_000017.11:1653624:C:T p.(Asp2096Asn) NC_000017.11:1653624:C:T Identity +NM_001317184.2:c.104A>C NP_001304113.1:p.Glu35Ala NC_000016.10:68738351:A:C p.(Glu35Ala) NC_000016.10:68738351:A:C p.(Glu35Ala) NC_000016.10:68738351:A:C Identity +NM_000090.4:c.3341A>G NP_000081.2:p.Asn1114Ser NC_000002.12:189007584:A:G p.(Asn1114Ser) NC_000002.12:189007584:A:G p.(Asn1114Ser) NC_000002.12:189007584:A:G Identity +NM_004415.4:c.4337A>G NP_004406.2:p.Gln1446Arg NC_000006.12:7580526:A:G p.(Gln1446Arg) NC_000006.12:7580526:A:G p.(Gln1446Arg) NC_000006.12:7580526:A:G Identity +NM_001008844.3:c.4019T>C NP_001008844.1:p.Ile1340Thr NC_000006.12:7583077:T:C p.(Ile1340Thr) NC_000006.12:7583077:T:C p.(Ile1340Thr) NC_000006.12:7583077:T:C Identity +NM_001008844.3:c.4583C>T NP_001008844.1:p.Ala1528Val NC_000006.12:7583641:C:T p.(Ala1528Val) NC_000006.12:7583641:C:T p.(Ala1528Val) NC_000006.12:7583641:C:T Identity +NM_001378418.1:c.3938A>G NP_001365347.1:p.Lys1313Arg NC_000022.11:42211367:T:C p.(Lys1313Arg) NC_000022.11:42211367:T:C p.(Lys1313Arg) NC_000022.11:42211367:T:C Identity +NM_001425749.1:c.1867C>T NP_001412678.1:p.Arg623Cys NC_000016.10:81910652:C:T p.(Arg623Cys) NC_000016.10:81910652:C:T p.(Arg623Cys) NC_000016.10:81910652:C:T Identity +NM_001281463.1:c.758G>A NP_001268392.1:p.Arg253Gln NC_000023.11:53412929:C:T p.(Arg253Gln) NC_000023.11:53412929:C:T p.(Arg253Gln) NC_000023.11:53412929:C:T Identity +NM_001206729.2:c.1271C>T NP_001193658.1:p.Pro424Leu NC_000001.11:243512406:G:A p.(Pro424Leu) NC_000001.11:243512406:G:A p.(Pro424Leu) NC_000001.11:243512406:G:A Identity +NM_001174089.2:c.127C>T NP_001167560.1:p.Arg43Ter NC_000020.11:3234855:G:A p.(Arg43Ter) NC_000020.11:3234855:G:A p.(Arg43Ter) NC_000020.11:3234855:G:A Identity +NM_000036.3:c.933C>G NP_000027.3:p.Asn311Lys NC_000001.11:114678491:G:C p.(Asn311Lys) NC_000001.11:114678491:G:C p.(Asn311Lys) NC_000001.11:114678491:G:C Identity +NM_004064.5:c.127C>T NP_004055.1:p.Arg43Trp NC_000012.12:12717965:C:T p.(Arg43Trp) NC_000012.12:12717965:C:T p.(Arg43Trp) NC_000012.12:12717965:C:T Identity +NM_000540.3:c.5279A>T NP_000531.2:p.His1760Leu NC_000019.10:38485933:A:T p.(His1760Leu) NC_000019.10:38485933:A:T p.(His1760Leu) NC_000019.10:38485933:A:T Identity +NM_020778.5:c.5060A>T NP_065829.4:p.Gln1687Leu NC_000015.10:84868397:A:T p.(Gln1687Leu) NC_000015.10:84868397:A:T p.(Gln1687Leu) NC_000015.10:84868397:A:T Identity +NM_001304763.2:c.2855G>A NP_001291692.1:p.Gly952Asp NC_000001.11:151289897:G:A p.(Gly952Asp) NC_000001.11:151289897:G:A p.(Gly952Asp) NC_000001.11:151289897:G:A Identity +NM_001135649.3:c.1163C>T NP_001129121.1:p.Ala388Val NC_000002.12:88448306:G:A p.(Ala388Val) NC_000002.12:88448306:G:A p.(Ala388Val) NC_000002.12:88448306:G:A Identity +NM_001031689.3:c.1750T>C NP_001026859.1:p.Cys584Arg NC_000009.12:26907905:A:G p.(Cys584Arg) NC_000009.12:26907905:A:G p.(Cys584Arg) NC_000009.12:26907905:A:G Identity +NM_001080467.3:c.3560T>G NP_001073936.1:p.Ile1187Arg NC_000018.10:49872209:A:C p.(Ile1187Arg) NC_000018.10:49872209:A:C p.(Ile1187Arg) NC_000018.10:49872209:A:C Identity +NM_001142386.3:c.86T>A NP_001135858.1:p.Ile29Asn NC_000023.11:24465540:T:A p.(Ile29Asn) NC_000023.11:24465540:T:A p.(Ile29Asn) NC_000023.11:24465540:T:A Identity +NM_000780.4:c.1229A>G NP_000771.2:p.Asp410Gly NC_000008.11:58491760:T:C p.(Asp410Gly) NC_000008.11:58491760:T:C p.(Asp410Gly) NC_000008.11:58491760:T:C Identity +NM_000142.5:c.1924G>A NP_000133.1:p.Val642Met NC_000004.12:1806137:G:A p.(Val642Met) NC_000004.12:1806137:G:A p.(Val642Met) NC_000004.12:1806137:G:A Identity +NM_000721.4:c.5405C>T NP_000712.2:p.Thr1802Met NC_000001.11:181783718:C:T p.(Thr1802Met) NC_000001.11:181783718:C:T p.(Thr1802Met) NC_000001.11:181783718:C:T Identity +NM_003823.4:c.356T>G NP_003814.1:p.Phe119Cys NC_000020.11:63697122:T:G p.(Phe119Cys) NC_000020.11:63697122:T:G p.(Phe119Cys) NC_000020.11:63697122:T:G Identity +NM_005157.6:c.2531C>A NP_005148.2:p.Thr844Asn NC_000009.12:130884820:C:A p.(Thr844Asn) NC_000009.12:130884820:C:A p.(Thr844Asn) NC_000009.12:130884820:C:A Identity +NM_001318781.2:c.407A>T NP_001305710.1:p.Gln136Leu NC_000003.12:64686676:T:A p.(Gln136Leu) NC_000003.12:64686676:T:A p.(Gln136Leu) NC_000003.12:64686676:T:A Identity +NM_000051.4:c.587A>G NP_000042.3:p.Lys196Arg NC_000011.10:108244042:A:G p.(Lys196Arg) NC_000011.10:108244042:A:G p.(Lys196Arg) NC_000011.10:108244042:A:G Identity +NM_002709.3:c.20A>C NP_002700.1:p.Asn7Thr NC_000002.12:28752143:A:C p.(Asn7Thr) NC_000002.12:28752143:A:C p.(Asn7Thr) NC_000002.12:28752143:A:C Identity +NM_001134363.3:c.3476C>A NP_001127835.2:p.Thr1159Asn NC_000010.11:110831084:C:A p.(Thr1159Asn) NC_000010.11:110831084:C:A p.(Thr1159Asn) NC_000010.11:110831084:C:A Identity +NM_000443.4:c.2678G>A NP_000434.1:p.Gly893Glu NC_000007.14:87417315:C:T p.(Gly893Glu) NC_000007.14:87417315:C:T p.(Gly893Glu) NC_000007.14:87417315:C:T Identity +NM_001379291.1:c.2615G>A NP_001366220.1:p.Arg872Gln NC_000019.10:15243453:C:T p.(Arg872Gln) NC_000019.10:15243453:C:T p.(Arg872Gln) NC_000019.10:15243453:C:T Identity +NM_001127208.3:c.4097G>T NP_001120680.1:p.Arg1366Leu NC_000004.12:105269661:G:T p.(Arg1366Leu) NC_000004.12:105269661:G:T p.(Arg1366Leu) NC_000004.12:105269661:G:T Identity +NM_001410908.1:c.4249C>G NP_001397837.1:p.Pro1417Ala NC_000007.14:105112130:C:G p.(Pro1417Ala) NC_000007.14:105112130:C:G p.(Pro1417Ala) NC_000007.14:105112130:C:G Identity +NM_001363656.2:c.1037T>C NP_001350585.1:p.Val346Ala NC_000019.10:52222153:T:C p.(Val346Ala) NC_000019.10:52222153:T:C p.(Val346Ala) NC_000019.10:52222153:T:C Identity +NM_000032.5:c.292G>A NP_000023.2:p.Ala98Thr NC_000023.11:55024729:C:T p.(Ala98Thr) NC_000023.11:55024729:C:T p.(Ala98Thr) NC_000023.11:55024729:C:T Identity +NM_001288607.2:c.1708dup NP_001275536.1:p.Ser570fs NC_000001.11:150556682:T:TT p.(Ser570PhefsTer12) NC_000001.11:150556682:T:TT p.(Ser570PhefsTer12) ERR:SPDI Analogous +NM_001320892.2:c.373C>G NP_001307821.1:p.Leu125Val NC_000002.12:25282515:G:C p.(Leu125Val) NC_000002.12:25282515:G:C p.(Leu125Val) NC_000002.12:25282515:G:C Identity +NM_001350505.2:c.170C>G NP_001337434.1:p.Ser57Ter NC_000006.12:87564172:G:C p.(Ser57Ter) NC_000006.12:87564172:G:C p.(Ser57Ter) NC_000006.12:87564172:G:C Identity +NM_000785.4:c.21C>G NP_000776.1:p.Tyr7Ter NC_000012.12:57767020:G:C p.(Tyr7Ter) NC_000012.12:57767020:G:C p.(Tyr7Ter) NC_000012.12:57767020:G:C Identity +NM_001081.4:c.6047C>T NP_001072.2:p.Thr2016Ile NC_000010.11:16933163:G:A p.(Thr2016Ile) NC_000010.11:16933163:G:A p.(Thr2016Ile) NC_000010.11:16933163:G:A Identity +NM_001321431.2:c.3005G>A NP_001308360.1:p.Cys1002Tyr NC_000019.10:8123540:C:T p.(Cys1002Tyr) NC_000019.10:8123540:C:T p.(Cys1002Tyr) NC_000019.10:8123540:C:T Identity +NM_001037333.3:c.3220G>A NP_001032410.1:p.Ala1074Thr NC_000005.10:157389200:G:A p.(Ala1074Thr) NC_000005.10:157389200:G:A p.(Ala1074Thr) NC_000005.10:157389200:G:A Identity +NM_001166005.2:c.2143C>T NP_001159477.1:p.Arg715Ter NC_000001.11:29065116:C:T p.(Arg715Ter) NC_000001.11:29065116:C:T p.(Arg715Ter) NC_000001.11:29065116:C:T Identity +NM_000760.4:c.1258A>G NP_000751.1:p.Thr420Ala NC_000001.11:36471459:T:C p.(Thr420Ala) NC_000001.11:36471459:T:C p.(Thr420Ala) NC_000001.11:36471459:T:C Identity +NM_000094.4:c.143C>T NP_000085.1:p.Ser48Phe NC_000003.12:48594490:G:A p.(Ser48Phe) NC_000003.12:48594490:G:A p.(Ser48Phe) NC_000003.12:48594490:G:A Identity +NM_001367904.1:c.1444G>A NP_001354833.1:p.Val482Met NC_000011.10:117518531:C:T p.(Val482Met) NC_000011.10:117518531:C:T p.(Val482Met) NC_000011.10:117518531:C:T Identity +NM_000548.5:c.815C>A NP_000539.2:p.Ala272Asp NC_000016.10:2057144:C:A p.(Ala272Asp) NC_000016.10:2057144:C:A p.(Ala272Asp) NC_000016.10:2057144:C:A Identity +NM_000540.3:c.13027G>C NP_000531.2:p.Ala4343Pro NC_000019.10:38565360:G:C p.(Ala4343Pro) NC_000019.10:38565360:G:C p.(Ala4343Pro) NC_000019.10:38565360:G:C Identity +NM_004714.3:c.1017G>C NP_004705.1:p.Gln339His NC_000019.10:39827362:C:G p.(Gln339His) NC_000019.10:39827362:C:G p.(Gln339His) NC_000019.10:39827362:C:G Identity +NM_001083908.2:c.1515del NP_001077377.1:p.Ser506fs NC_000014.9:49633634:G: p.(Ser506GlnfsTer29) NC_000014.9:49633634:G: p.(Ser506GlnfsTer29) NC_000014.9:49633634:G: Analogous +NM_001029851.4:c.63C>A NP_001025022.1:p.Asp21Glu NC_000005.10:77210987:C:A p.(Asp21Glu) NC_000005.10:77210987:C:A p.(Asp21Glu) NC_000005.10:77210987:C:A Identity +NM_152468.5:c.1481del NP_689681.2:p.Leu494fs NC_000017.11:78138135:T: p.(Leu494ArgfsTer5) NC_000017.11:78138135:T: p.(Leu494ArgfsTer5) NC_000017.11:78138135:T: Analogous +NM_001354705.2:c.475G>T NP_001341634.1:p.Val159Leu NC_000012.12:57568989:G:T p.(Val159Leu) NC_000012.12:57568989:G:T p.(Val159Leu) NC_000012.12:57568989:G:T Identity +NM_001100913.3:c.928A>G NP_001094383.2:p.Ser310Gly NC_000014.9:105376893:A:G p.(Ser310Gly) NC_000014.9:105376893:A:G p.(Ser310Gly) NC_000014.9:105376893:A:G Identity +NM_001309443.2:c.896A>T NP_001296372.1:p.Asp299Val NC_000005.10:151663583:T:A p.(Asp299Val) NC_000005.10:151663583:T:A p.(Asp299Val) NC_000005.10:151663583:T:A Identity +NM_001169111.2:c.445dup NP_001162582.1:p.Arg149fs NC_000022.11:50523966:G:GG p.(Arg149ProfsTer27) NC_000022.11:50523966:G:GG p.(Arg149ProfsTer27) ERR:SPDI Analogous +NM_004523.4:c.1460G>A NP_004514.2:p.Ser487Asn NC_000010.11:92630329:G:A p.(Ser487Asn) NC_000010.11:92630329:G:A p.(Ser487Asn) NC_000010.11:92630329:G:A Identity +NM_000260.4:c.1890CTT[1] NP_000251.3:p.Phe632del NC_000011.10:77172839:CTTCTT:CTT p.(Phe632del) NC_000011.10:77172839:C:CTT ERR:Parse ERR:Parse Identity +NM_002772.3:c.1516C>T NP_002763.3:p.Leu506Phe NC_000021.9:18341460:G:A p.(Leu506Phe) NC_000021.9:18341460:G:A p.(Leu506Phe) NC_000021.9:18341460:G:A Identity +NM_001367904.1:c.745G>T NP_001354833.1:p.Ala249Ser NC_000011.10:117524996:C:A p.(Ala249Ser) NC_000011.10:117524996:C:A p.(Ala249Ser) NC_000011.10:117524996:C:A Identity +NM_000352.6:c.1068C>G NP_000343.2:p.Tyr356Ter NC_000011.10:17453226:G:C p.(Tyr356Ter) NC_000011.10:17453226:G:C p.(Tyr356Ter) NC_000011.10:17453226:G:C Identity +NM_001348181.2:c.3290A>G NP_001335110.1:p.His1097Arg NC_000002.12:24246849:T:C p.(His1097Arg) NC_000002.12:24246849:T:C p.(His1097Arg) NC_000002.12:24246849:T:C Identity +NM_000092.5:c.2270G>A NP_000083.3:p.Gly757Glu NC_000002.12:227059517:C:T p.(Gly757Glu) NC_000002.12:227059517:C:T p.(Gly757Glu) NC_000002.12:227059517:C:T Identity +NM_004629.2:c.1379G>A NP_004620.1:p.Gly460Asp NC_000009.12:35075518:C:T p.(Gly460Asp) NC_000009.12:35075518:C:T p.(Gly460Asp) NC_000009.12:35075518:C:T Identity +NM_001006600.3:c.926A>G NP_001006600.1:p.Asn309Ser NC_000005.10:66025882:A:G p.(Asn309Ser) NC_000005.10:66025882:A:G p.(Asn309Ser) NC_000005.10:66025882:A:G Identity +NM_000833.5:c.1145C>T NP_000824.1:p.Thr382Met NC_000016.10:9849938:G:A p.(Thr382Met) NC_000016.10:9849938:G:A p.(Thr382Met) NC_000016.10:9849938:G:A Identity +NM_001165963.4:c.1175T>G NP_001159435.1:p.Leu392Ter NC_000002.12:166046971:A:C p.(Leu392Ter) NC_000002.12:166046971:A:C p.(Leu392Ter) NC_000002.12:166046971:A:C Identity +NM_001346897.2:c.1565T>G NP_001333826.1:p.Met522Arg NC_000007.14:55163800:T:G p.(Met522Arg) NC_000007.14:55163800:T:G p.(Met522Arg) NC_000007.14:55163800:T:G Identity +NM_001080517.3:c.2258A>G NP_001073986.1:p.Lys753Arg NC_000003.12:9448541:A:G p.(Lys753Arg) NC_000003.12:9448541:A:G p.(Lys753Arg) NC_000003.12:9448541:A:G Identity +NM_001211.6:c.74G>A NP_001202.5:p.Ser25Asn NC_000015.10:40165090:G:A p.(Ser25Asn) NC_000015.10:40165090:G:A p.(Ser25Asn) NC_000015.10:40165090:G:A Identity +NM_022788.5:c.634A>T NP_073625.1:p.Ile212Phe NC_000003.12:151338211:T:A p.(Ile212Phe) NC_000003.12:151338211:T:A p.(Ile212Phe) NC_000003.12:151338211:T:A Identity +NM_001447.3:c.11909A>G NP_001438.1:p.Tyr3970Cys NC_000005.10:151510170:T:C p.(Tyr3970Cys) NC_000005.10:151510170:T:C p.(Tyr3970Cys) NC_000005.10:151510170:T:C Identity +NM_000411.8:c.1783del NP_000402.3:p.Tyr595fs NC_000021.9:36759738:AAAA:AAA p.(Tyr595IlefsTer10) NC_000021.9:36759738:AAAA:AAA p.(Tyr595IlefsTer10) NC_000021.9:36759738:A: Analogous +NM_001013838.3:c.2582G>A NP_001013860.1:p.Arg861Lys NC_000016.10:67651838:G:A p.(Arg861Lys) NC_000016.10:67651838:G:A p.(Arg861Lys) NC_000016.10:67651838:G:A Identity +NM_021072.4:c.2620G>C NP_066550.2:p.Val874Leu NC_000005.10:45261973:C:G p.(Val874Leu) NC_000005.10:45261973:C:G p.(Val874Leu) NC_000005.10:45261973:C:G Identity +NM_000271.5:c.1176dup NP_000262.2:p.Glu393fs NC_000018.10:23556392:TTTTT:TTTTTT p.(Glu393ArgfsTer4) NC_000018.10:23556392:TTTTT:TTTTTT p.(Glu393ArgfsTer4) ERR:SPDI Analogous +NM_000478.6:c.167T>C NP_000469.3:p.Met56Thr NC_000001.11:21560730:T:C p.(Met56Thr) NC_000001.11:21560730:T:C p.(Met56Thr) NC_000001.11:21560730:T:C Identity +NM_020928.2:c.2329C>T NP_065979.1:p.Leu777Phe NC_000005.10:61535566:C:T p.(Leu777Phe) NC_000005.10:61535566:C:T p.(Leu777Phe) NC_000005.10:61535566:C:T Identity +NM_015629.4:c.1385T>C NP_056444.3:p.Ile462Thr NC_000019.10:54131316:T:C p.(Ile462Thr) NC_000019.10:54131316:T:C p.(Ile462Thr) NC_000019.10:54131316:T:C Identity +NM_001376.5:c.8606G>C NP_001367.2:p.Arg2869Pro NC_000014.9:102022848:G:C p.(Arg2869Pro) NC_000014.9:102022848:G:C p.(Arg2869Pro) NC_000014.9:102022848:G:C Identity +NM_003907.3:c.439_442del NP_003898.2:p.Asp147fs NC_000003.12:184137735:CTGACT:CT p.(Asp147PhefsTer23) NC_000003.12:184137735:CTGACT:CT p.(Asp147PhefsTer23) NC_000003.12:184137737:GACT: Analogous +NM_004218.4:c.311G>A NP_004209.2:p.Arg104His NC_000019.10:8402159:G:A p.(Arg104His) NC_000019.10:8402159:G:A p.(Arg104His) NC_000019.10:8402159:G:A Identity +NM_002485.5:c.143T>C NP_002476.2:p.Leu48Ser NC_000008.11:89982749:A:G p.(Leu48Ser) NC_000008.11:89982749:A:G p.(Leu48Ser) NC_000008.11:89982749:A:G Identity +NM_001168249.1:c.1353G>T NP_001161721.1:p.Gln451His NC_000001.11:103006297:C:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_032444.4:c.3646C>T NP_115820.2:p.Gln1216Ter NC_000016.10:3589991:G:A p.(Gln1216Ter) NC_000016.10:3589991:G:A p.(Gln1216Ter) NC_000016.10:3589991:G:A Identity +NM_001145252.3:c.599G>A NP_001138724.1:p.Gly200Asp NC_000023.11:47627307:C:T p.(Gly200Asp) NC_000023.11:47627307:C:T p.(Gly200Asp) NC_000023.11:47627307:C:T Identity +NM_004459.7:c.3946G>A NP_004450.3:p.Glu1316Lys NC_000017.11:67911451:G:A p.(Glu1316Lys) NC_000017.11:67911451:G:A p.(Glu1316Lys) NC_000017.11:67911451:G:A Identity +NM_014510.3:c.6304C>G NP_055325.2:p.Pro2102Ala NC_000007.14:82954648:G:C p.(Pro2102Ala) NC_000007.14:82954648:G:C p.(Pro2102Ala) NC_000007.14:82954648:G:C Identity +NM_032656.4:c.3197G>A NP_116045.2:p.Arg1066Gln NC_000012.12:124950167:C:T p.(Arg1066Gln) NC_000012.12:124950167:C:T p.(Arg1066Gln) NC_000012.12:124950167:C:T Identity +NM_000342.4:c.2245G>A NP_000333.1:p.Ala749Thr NC_000017.11:44253183:C:T p.(Ala749Thr) NC_000017.11:44253183:C:T p.(Ala749Thr) NC_000017.11:44253183:C:T Identity +NM_024700.4:c.506C>T NP_078976.2:p.Thr169Ile NC_000001.11:37540576:G:A p.(Thr169Ile) NC_000001.11:37540576:G:A p.(Thr169Ile) NC_000001.11:37540576:G:A Identity +NM_001142281.2:c.1043A>G NP_001135753.1:p.Asn348Ser NC_000011.10:118597771:A:G p.(Asn348Ser) NC_000011.10:118597771:A:G p.(Asn348Ser) NC_000011.10:118597771:A:G Identity +NM_001143990.2:c.110A>C NP_001137462.1:p.Asp37Ala NC_000017.11:7688757:A:C p.(Asp37Ala) NC_000017.11:7688757:A:C p.(Asp37Ala) NC_000017.11:7688757:A:C Identity +NM_001349608.2:c.1240T>C NP_001336537.1:p.Phe414Leu NC_000001.11:7663876:T:C p.(Phe414Leu) NC_000001.11:7663876:T:C p.(Phe414Leu) NC_000001.11:7663876:T:C Identity +NM_001145853.1:c.1948T>G NP_001139325.1:p.Tyr650Asp NC_000004.12:6301742:T:G p.(Tyr650Asp) NC_000004.12:6301742:T:G p.(Tyr650Asp) NC_000004.12:6301742:T:G Identity +NM_001040633.2:c.1115C>T NP_001035723.1:p.Pro372Leu NC_000007.14:151565871:G:A p.(Pro372Leu) NC_000007.14:151565871:G:A p.(Pro372Leu) NC_000007.14:151565871:G:A Identity +NM_020928.2:c.3122G>A NP_065979.1:p.Gly1041Glu NC_000005.10:61543790:G:A p.(Gly1041Glu) NC_000005.10:61543790:G:A p.(Gly1041Glu) NC_000005.10:61543790:G:A Identity +NM_001031696.4:c.199C>T NP_001026866.1:p.Leu67Phe NC_000019.10:40366868:C:T p.(Leu67Phe) NC_000019.10:40366868:C:T p.(Leu67Phe) NC_000019.10:40366868:C:T Identity +NM_006445.4:c.5578C>G NP_006436.3:p.Gln1860Glu NC_000017.11:1656688:G:C p.(Gln1860Glu) NC_000017.11:1656688:G:C p.(Gln1860Glu) NC_000017.11:1656688:G:C Identity +NM_005267.5:c.263C>G NP_005258.2:p.Pro88Arg NC_000001.11:147908217:C:G p.(Pro88Arg) NC_000001.11:147908217:C:G p.(Pro88Arg) NC_000001.11:147908217:C:G Identity +NM_001040108.2:c.1697C>A NP_001035197.1:p.Pro566His NC_000014.9:75047958:G:T p.(Pro566His) NC_000014.9:75047958:G:T p.(Pro566His) NC_000014.9:75047958:G:T Identity +NM_001943.5:c.235G>A NP_001934.2:p.Glu79Lys NC_000018.10:31520820:G:A p.(Glu79Lys) NC_000018.10:31520820:G:A p.(Glu79Lys) NC_000018.10:31520820:G:A Identity +NM_001128610.3:c.494A>T NP_001122082.1:p.Gln165Leu NC_000015.10:50459157:A:T p.(Gln165Leu) NC_000015.10:50459157:A:T p.(Gln165Leu) NC_000015.10:50459157:A:T Identity +NM_001320923.2:c.2533A>G NP_001307852.1:p.Ile845Val NC_000001.11:64841471:T:C p.(Ile845Val) NC_000001.11:64841471:T:C p.(Ile845Val) NC_000001.11:64841471:T:C Identity +NM_001329090.2:c.1018C>T NP_001316019.1:p.Arg340Cys NC_000001.11:16137984:G:A p.(Arg340Cys) NC_000001.11:16137984:G:A p.(Arg340Cys) NC_000001.11:16137984:G:A Identity +NM_000257.4:c.133G>A NP_000248.2:p.Glu45Lys NC_000014.9:23433599:C:T p.(Glu45Lys) NC_000014.9:23433599:C:T p.(Glu45Lys) NC_000014.9:23433599:C:T Identity +NM_001126054.3:c.1978G>T NP_001119526.1:p.Ala660Ser NC_000023.11:41542798:C:A p.(Ala660Ser) NC_000023.11:41542798:C:A p.(Ala660Ser) NC_000023.11:41542798:C:A Identity +NM_001411101.1:c.2342T>A NP_001398030.1:p.Leu781Ter NC_000017.11:82926412:T:A p.(Leu781Ter) NC_000017.11:82926412:T:A p.(Leu781Ter) NC_000017.11:82926412:T:A Identity +NM_001303496.3:c.3710C>T NP_001290425.1:p.Thr1237Ile NC_000007.14:93132261:G:A p.(Thr1237Ile) NC_000007.14:93132261:G:A p.(Thr1237Ile) NC_000007.14:93132261:G:A Identity +NM_012193.4:c.683G>C NP_036325.2:p.Ser228Thr NC_000011.10:86952072:C:G p.(Ser228Thr) NC_000011.10:86952072:C:G p.(Ser228Thr) NC_000011.10:86952072:C:G Identity +NM_001291411.2:c.2008T>A NP_001278340.2:p.Ser670Thr NC_000021.9:33551238:T:A p.(Ser670Thr) NC_000021.9:33551238:T:A p.(Ser670Thr) NC_000021.9:33551238:T:A Identity +NM_001098623.2:c.13142A>G NP_001092093.2:p.His4381Arg NC_000001.11:228315975:A:G p.(His4381Arg) NC_000001.11:228315975:A:G p.(His4381Arg) NC_000001.11:228315975:A:G Identity +NM_001098623.2:c.18811C>T NP_001092093.2:p.Pro6271Ser NC_000001.11:228362724:C:T p.(Pro6271Ser) NC_000001.11:228362724:C:T p.(Pro6271Ser) NC_000001.11:228362724:C:T Identity +NM_004795.4:c.1994C>A NP_004786.2:p.Ala665Asp NC_000013.11:33061072:C:A p.(Ala665Asp) NC_000013.11:33061072:C:A p.(Ala665Asp) NC_000013.11:33061072:C:A Identity +NM_000539.3:c.322A>G NP_000530.1:p.Thr108Ala NC_000003.12:129529054:A:G p.(Thr108Ala) NC_000003.12:129529054:A:G p.(Thr108Ala) NC_000003.12:129529054:A:G Identity +NM_001164317.2:c.4690C>T NP_001157789.1:p.Pro1564Ser NC_000003.12:58134697:C:T p.(Pro1564Ser) NC_000003.12:58134697:C:T p.(Pro1564Ser) NC_000003.12:58134697:C:T Identity +NM_001161482.1:c.773G>C NP_001154954.1:p.Cys258Ser NC_000010.11:240911:G:C ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_001271427.2:c.743T>C NP_001258356.1:p.Leu248Ser NC_000001.11:19240339:A:G p.(Leu248Ser) NC_000001.11:19240339:A:G p.(Leu248Ser) NC_000001.11:19240339:A:G Identity +NM_001034116.2:c.508C>T NP_001029288.1:p.Arg170Ter NC_000002.12:27368453:G:A p.(Arg170Ter) NC_000002.12:27368453:G:A p.(Arg170Ter) NC_000002.12:27368453:G:A Identity +NM_000742.4:c.392C>T NP_000733.2:p.Thr131Ile NC_000008.11:27467285:G:A p.(Thr131Ile) NC_000008.11:27467285:G:A p.(Thr131Ile) NC_000008.11:27467285:G:A Identity +NM_017934.7:c.4892C>T NP_060404.4:p.Pro1631Leu NC_000006.12:78941266:G:A p.(Pro1631Leu) NC_000006.12:78941266:G:A p.(Pro1631Leu) NC_000006.12:78941266:G:A Identity +NM_001561.6:c.428G>T NP_001552.2:p.Gly143Val NC_000001.11:7935128:C:A p.(Gly143Val) NC_000001.11:7935128:C:A p.(Gly143Val) NC_000001.11:7935128:C:A Identity +NM_001146289.2:c.1316C>G NP_001139761.1:p.Ser439Ter NC_000001.11:42754897:G:C p.(Ser439Ter) NC_000001.11:42754897:G:C p.(Ser439Ter) NC_000001.11:42754897:G:C Identity +NM_001372.4:c.5215G>A NP_001363.2:p.Glu1739Lys NC_000017.11:11704265:G:A p.(Glu1739Lys) NC_000017.11:11704265:G:A p.(Glu1739Lys) NC_000017.11:11704265:G:A Identity +NM_000350.3:c.3924G>C NP_000341.2:p.Glu1308Asp NC_000001.11:94031981:C:G p.(Glu1308Asp) NC_000001.11:94031981:C:G p.(Glu1308Asp) NC_000001.11:94031981:C:G Identity +NM_001277115.2:c.9862A>T NP_001264044.1:p.Thr3288Ser NC_000007.14:21787520:A:T p.(Thr3288Ser) NC_000007.14:21787520:A:T p.(Thr3288Ser) NC_000007.14:21787520:A:T Identity +NM_001164317.2:c.6809C>T NP_001157789.1:p.Thr2270Ile NC_000003.12:58154871:C:T p.(Thr2270Ile) NC_000003.12:58154871:C:T p.(Thr2270Ile) NC_000003.12:58154871:C:T Identity +NM_015072.5:c.3329del NP_055887.3:p.Ser1110fs NC_000014.9:75863668:G: p.(Ser1110ThrfsTer13) NC_000014.9:75863668:G: p.(Ser1110ThrfsTer13) NC_000014.9:75863668:G: Analogous +NM_015378.4:c.10097A>C NP_056193.2:p.Lys3366Thr NC_000001.11:12358556:A:C p.(Lys3366Thr) NC_000001.11:12358556:A:C p.(Lys3366Thr) NC_000001.11:12358556:A:C Identity +NM_001261406.2:c.2765G>A NP_001248335.1:p.Ser922Asn NC_000009.12:13176301:C:T p.(Ser922Asn) NC_000009.12:13176301:C:T p.(Ser922Asn) NC_000009.12:13176301:C:T Identity +NM_001424108.1:c.3753T>G NP_001411037.1:p.Asn1251Lys NC_000006.12:33168545:A:C p.(Asn1251Lys) NC_000006.12:33168545:A:C p.(Asn1251Lys) NC_000006.12:33168545:A:C Identity +NM_001424108.1:c.2867C>A NP_001411037.1:p.Ser956Tyr NC_000006.12:33171815:G:T p.(Ser956Tyr) NC_000006.12:33171815:G:T p.(Ser956Tyr) NC_000006.12:33171815:G:T Identity +NM_021620.4:c.956A>C NP_067633.2:p.Lys319Thr NC_000006.12:99613590:A:C p.(Lys319Thr) NC_000006.12:99613590:A:C p.(Lys319Thr) NC_000006.12:99613590:A:C Identity +NM_001166133.2:c.748_758del NP_001159605.1:p.Arg250fs NC_000004.12:78266893:AGGTGTCACAA: p.(Arg250AlafsTer23) NC_000004.12:78266893:AGGTGTCACAA: p.(Arg250AlafsTer23) NC_000004.12:78266893:AGGTGTCACAA: Analogous +NM_001276270.2:c.1003A>G NP_001263199.1:p.Lys335Glu NC_000003.12:129436640:T:C p.(Lys335Glu) NC_000003.12:129436640:T:C p.(Lys335Glu) NC_000003.12:129436640:T:C Identity +NM_001145853.1:c.1387G>T NP_001139325.1:p.Val463Phe NC_000004.12:6301181:G:T p.(Val463Phe) NC_000004.12:6301181:G:T p.(Val463Phe) NC_000004.12:6301181:G:T Identity +NM_004795.4:c.2012G>T NP_004786.2:p.Arg671Leu NC_000013.11:33061090:G:T p.(Arg671Leu) NC_000013.11:33061090:G:T p.(Arg671Leu) NC_000013.11:33061090:G:T Identity +NM_001852.4:c.662A>G NP_001843.1:p.Glu221Gly NC_000001.11:40310735:T:C p.(Glu221Gly) NC_000001.11:40310735:T:C p.(Glu221Gly) NC_000001.11:40310735:T:C Identity +NM_000297.4:c.1172A>G NP_000288.1:p.Tyr391Cys NC_000004.12:88043309:A:G p.(Tyr391Cys) NC_000004.12:88043309:A:G p.(Tyr391Cys) NC_000004.12:88043309:A:G Identity +NM_000747.3:c.216G>C NP_000738.2:p.Glu72Asp NC_000017.11:7446085:G:C p.(Glu72Asp) NC_000017.11:7446085:G:C p.(Glu72Asp) NC_000017.11:7446085:G:C Identity +NM_005914.4:c.2236A>G NP_005905.2:p.Lys746Glu NC_000008.11:47974832:A:G p.(Lys746Glu) NC_000008.11:47974832:A:G p.(Lys746Glu) NC_000008.11:47974832:A:G Identity +NM_020232.5:c.746G>A NP_064617.2:p.Ser249Asn NC_000018.10:12725481:G:A p.(Ser249Asn) NC_000018.10:12725481:G:A p.(Ser249Asn) NC_000018.10:12725481:G:A Identity +NM_001711.6:c.1079C>T NP_001702.1:p.Ala360Val NC_000023.11:153508416:C:T p.(Ala360Val) NC_000023.11:153508416:C:T p.(Ala360Val) NC_000023.11:153508416:C:T Identity +NM_006269.2:c.4687A>T NP_006260.1:p.Met1563Leu NC_000008.11:54628568:A:T p.(Met1563Leu) NC_000008.11:54628568:A:T p.(Met1563Leu) NC_000008.11:54628568:A:T Identity +NM_001037333.3:c.788T>A NP_001032410.1:p.Leu263His NC_000005.10:157304358:T:A p.(Leu263His) NC_000005.10:157304358:T:A p.(Leu263His) NC_000005.10:157304358:T:A Identity +NM_001194954.2:c.575G>A NP_001181883.1:p.Arg192His NC_000005.10:139307989:G:A p.(Arg192His) NC_000005.10:139307989:G:A p.(Arg192His) NC_000005.10:139307989:G:A Identity +NM_001193307.2:c.4222G>T NP_001180236.1:p.Val1408Phe NC_000007.14:93101875:C:A p.(Val1408Phe) NC_000007.14:93101875:C:A p.(Val1408Phe) NC_000007.14:93101875:C:A Identity +NM_001315529.2:c.2636_2637dup NP_001302458.1:p.Glu880fs NC_000021.9:46366962:TTT:TTTTT p.(Glu880LeufsTer16) NC_000021.9:46366962:TTT:TTTTT p.(Glu880LeufsTer16) ERR:SPDI Analogous +NM_001145472.3:c.2532G>A NP_001138944.1:p.Trp844Ter NC_000018.10:46505850:C:T p.(Trp844Ter) NC_000018.10:46505850:C:T p.(Trp844Ter) NC_000018.10:46505850:C:T Identity +NM_001012509.4:c.52G>C NP_001012527.2:p.Asp18His NC_000005.10:33984531:C:G p.(Asp18His) NC_000005.10:33984531:C:G p.(Asp18His) NC_000005.10:33984531:C:G Identity +NM_004975.4:c.2075A>G NP_004966.1:p.His692Arg NC_000020.11:49373484:T:C p.(His692Arg) NC_000020.11:49373484:T:C p.(His692Arg) NC_000020.11:49373484:T:C Identity +NM_003482.4:c.13606C>G NP_003473.3:p.Arg4536Gly NC_000012.12:49030957:G:C p.(Arg4536Gly) NC_000012.12:49030957:G:C p.(Arg4536Gly) NC_000012.12:49030957:G:C Identity +NM_017433.5:c.2540A>G NP_059129.3:p.Asn847Ser NC_000010.11:26147463:A:G p.(Asn847Ser) NC_000010.11:26147463:A:G p.(Asn847Ser) NC_000010.11:26147463:A:G Identity +NM_001159699.2:c.738G>T NP_001153171.1:p.Gly246= NC_000023.11:136209871:G:T p.(Gly246=) NC_000023.11:136209871:G:T p.(Gly246=) NC_000023.11:136209871:G:T Identity +NM_000392.5:c.2914C>T NP_000383.2:p.Gln972Ter NC_000010.11:99831640:C:T p.(Gln972Ter) NC_000010.11:99831640:C:T p.(Gln972Ter) NC_000010.11:99831640:C:T Identity +NM_001384158.1:c.422C>T NP_001371087.1:p.Ser141Leu NC_000014.9:91937026:G:A p.(Ser141Leu) NC_000014.9:91937026:G:A p.(Ser141Leu) NC_000014.9:91937026:G:A Identity +NM_014974.3:c.3427A>G NP_055789.1:p.Thr1143Ala NC_000010.11:344834:T:C p.(Thr1143Ala) NC_000010.11:344834:T:C p.(Thr1143Ala) NC_000010.11:344834:T:C Identity +NM_173500.4:c.1036G>A NP_775771.3:p.Val346Ile NC_000015.10:42783579:C:T p.(Val346Ile) NC_000015.10:42783579:C:T p.(Val346Ile) NC_000015.10:42783579:C:T Identity +NM_001127325.2:c.466G>A NP_001120797.1:p.Ala156Thr NC_000001.11:11675692:C:T p.(Ala156Thr) NC_000001.11:11675692:C:T p.(Ala156Thr) NC_000001.11:11675692:C:T Identity +NM_000321.3:c.2188G>C NP_000312.2:p.Asp730His NC_000013.11:48463811:G:C p.(Asp730His) NC_000013.11:48463811:G:C p.(Asp730His) NC_000013.11:48463811:G:C Identity +NM_001276270.2:c.275G>C NP_001263199.1:p.Arg92Thr NC_000003.12:129437779:C:G p.(Arg92Thr) NC_000003.12:129437779:C:G p.(Arg92Thr) NC_000003.12:129437779:C:G Identity +NM_001130009.3:c.929_930delinsAG NP_001123481.3:p.Ser310Lys NC_000002.12:17772759:GT:AG p.(Ser310Lys) NC_000002.12:17772759:GT:AG p.(Ser310Lys) NC_000002.12:17772759:GT:AG Identity +NM_001362949.2:c.1030C>T NP_001349878.1:p.Gln344Ter NC_000022.11:33382019:G:A p.(Gln344Ter) NC_000022.11:33382019:G:A p.(Gln344Ter) NC_000022.11:33382019:G:A Identity +NM_000836.4:c.877C>T NP_000827.2:p.Leu293Phe NC_000019.10:48405144:C:T p.(Leu293Phe) NC_000019.10:48405144:C:T p.(Leu293Phe) NC_000019.10:48405144:C:T Identity +NM_000255.4:c.893T>C NP_000246.2:p.Ile298Thr NC_000006.12:49456097:A:G p.(Ile298Thr) NC_000006.12:49456097:A:G p.(Ile298Thr) NC_000006.12:49456097:A:G Identity +NM_001321431.2:c.2590G>C NP_001308360.1:p.Gly864Arg NC_000019.10:8126311:C:G p.(Gly864Arg) NC_000019.10:8126311:C:G p.(Gly864Arg) NC_000019.10:8126311:C:G Identity +NM_001172810.3:c.262del NP_001166281.1:p.Leu88fs NC_000017.11:74285113:CCCCC:CCCC p.(Leu88TrpfsTer55) NC_000017.11:74285113:CCCCC:CCCC p.(Leu88TrpfsTer55) NC_000017.11:74285117:C: Analogous +NM_001037333.3:c.505G>A NP_001032410.1:p.Ala169Thr NC_000005.10:157300831:G:A p.(Ala169Thr) NC_000005.10:157300831:G:A p.(Ala169Thr) NC_000005.10:157300831:G:A Identity +NM_002500.5:c.25G>C NP_002491.3:p.Gly9Arg NC_000002.12:181678835:C:G p.(Gly9Arg) NC_000002.12:181678835:C:G p.(Gly9Arg) NC_000002.12:181678835:C:G Identity +NM_007209.4:c.25C>T NP_009140.1:p.Leu9Phe NC_000009.12:124861533:G:A p.(Leu9Phe) NC_000009.12:124861533:G:A p.(Leu9Phe) NC_000009.12:124861533:G:A Identity +NM_001256876.3:c.3932C>T NP_001243805.1:p.Ala1311Val NC_000009.12:744524:C:T p.(Ala1311Val) NC_000009.12:744524:C:T p.(Ala1311Val) NC_000009.12:744524:C:T Identity +NM_000815.5:c.766A>G NP_000806.2:p.Met256Val NC_000001.11:2029184:A:G p.(Met256Val) NC_000001.11:2029184:A:G p.(Met256Val) NC_000001.11:2029184:A:G Identity +NM_000038.6:c.5332C>T NP_000029.2:p.Pro1778Ser NC_000005.10:112840925:C:T p.(Pro1778Ser) NC_000005.10:112840925:C:T p.(Pro1778Ser) NC_000005.10:112840925:C:T Identity +NM_001105243.2:c.784G>T NP_001098713.1:p.Ala262Ser NC_000023.11:100407813:C:A p.(Ala262Ser) NC_000023.11:100407813:C:A p.(Ala262Ser) NC_000023.11:100407813:C:A Identity +NM_001257096.2:c.182C>T NP_001244025.1:p.Ser61Leu NC_000020.11:21705893:C:T p.(Ser61Leu) NC_000020.11:21705893:C:T p.(Ser61Leu) NC_000020.11:21705893:C:T Identity +NM_005862.3:c.3444C>A NP_005853.2:p.His1148Gln NC_000003.12:136343833:G:T p.(His1148Gln) NC_000003.12:136343833:G:T p.(His1148Gln) NC_000003.12:136343833:G:T Identity +NM_001277269.2:c.1699G>A NP_001264198.1:p.Val567Ile NC_000011.10:17569173:G:A p.(Val567Ile) NC_000011.10:17569173:G:A p.(Val567Ile) NC_000011.10:17569173:G:A Identity +NM_001197104.2:c.2039C>T NP_001184033.1:p.Ser680Leu NC_000011.10:118473197:C:T p.(Ser680Leu) NC_000011.10:118473197:C:T p.(Ser680Leu) NC_000011.10:118473197:C:T Identity +NM_001164317.2:c.7324C>T NP_001157789.1:p.Arg2442Ter NC_000003.12:58168471:C:T p.(Arg2442Ter) NC_000003.12:58168471:C:T p.(Arg2442Ter) NC_000003.12:58168471:C:T Identity +NM_005188.4:c.182A>G NP_005179.2:p.Lys61Arg NC_000011.10:119206598:A:G p.(Lys61Arg) NC_000011.10:119206598:A:G p.(Lys61Arg) NC_000011.10:119206598:A:G Identity +NM_003373.4:c.2734T>G NP_003364.1:p.Trp912Gly NC_000010.11:74109144:T:G p.(Trp912Gly) NC_000010.11:74109144:T:G p.(Trp912Gly) NC_000010.11:74109144:T:G Identity +NM_001277115.2:c.10550C>G NP_001264044.1:p.Thr3517Arg NC_000007.14:21816683:C:G p.(Thr3517Arg) NC_000007.14:21816683:C:G p.(Thr3517Arg) NC_000007.14:21816683:C:G Identity +NM_001378761.1:c.6166C>T NP_001365690.1:p.Arg2056Cys NC_000011.10:121162321:C:T p.(Arg2056Cys) NC_000011.10:121162321:C:T p.(Arg2056Cys) NC_000011.10:121162321:C:T Identity +NM_001203263.2:c.1591G>A NP_001190192.2:p.Val531Met NC_000003.12:9933059:G:A p.(Val531Met) NC_000003.12:9933059:G:A p.(Val531Met) NC_000003.12:9933059:G:A Identity +NM_001278055.2:c.10705A>G NP_001264984.1:p.Ile3569Val NC_000013.11:23332729:T:C p.(Ile3569Val) NC_000013.11:23332729:T:C p.(Ile3569Val) NC_000013.11:23332729:T:C Identity +NM_015693.4:c.2324A>G NP_056508.2:p.Lys775Arg NC_000004.12:127708622:A:G p.(Lys775Arg) NC_000004.12:127708622:A:G p.(Lys775Arg) NC_000004.12:127708622:A:G Identity +NM_001171087.3:c.364A>C NP_001164558.1:p.Met122Leu NC_000003.12:184358298:T:G p.(Met122Leu) NC_000003.12:184358298:T:G p.(Met122Leu) NC_000003.12:184358298:T:G Identity +NM_001277115.2:c.9088A>G NP_001264044.1:p.Thr3030Ala NC_000007.14:21765574:A:G p.(Thr3030Ala) NC_000007.14:21765574:A:G p.(Thr3030Ala) NC_000007.14:21765574:A:G Identity +NM_002473.6:c.2819A>T NP_002464.1:p.Lys940Met NC_000022.11:36300869:T:A p.(Lys940Met) NC_000022.11:36300869:T:A p.(Lys940Met) NC_000022.11:36300869:T:A Identity +NM_005002.5:c.770A>G NP_004993.1:p.Asp257Gly NC_000012.12:4669786:A:G p.(Asp257Gly) NC_000012.12:4669786:A:G p.(Asp257Gly) NC_000012.12:4669786:A:G Identity +NM_001379291.1:c.3501G>C NP_001366220.1:p.Gln1167His NC_000019.10:15239466:C:G p.(Gln1167His) NC_000019.10:15239466:C:G p.(Gln1167His) NC_000019.10:15239466:C:G Identity +NM_001330384.2:c.1064A>G NP_001317313.1:p.Lys355Arg NC_000019.10:15264551:T:C p.(Lys355Arg) NC_000019.10:15264551:T:C p.(Lys355Arg) NC_000019.10:15264551:T:C Identity +NM_006269.2:c.3830G>A NP_006260.1:p.Ser1277Asn NC_000008.11:54627711:G:A p.(Ser1277Asn) NC_000008.11:54627711:G:A p.(Ser1277Asn) NC_000008.11:54627711:G:A Identity +NM_000051.4:c.4585T>C NP_000042.3:p.Tyr1529His NC_000011.10:108292766:T:C p.(Tyr1529His) NC_000011.10:108292766:T:C p.(Tyr1529His) NC_000011.10:108292766:T:C Identity +NM_001040108.2:c.680G>A NP_001035197.1:p.Ser227Asn NC_000014.9:75048975:C:T p.(Ser227Asn) NC_000014.9:75048975:C:T p.(Ser227Asn) NC_000014.9:75048975:C:T Identity +NM_001308258.2:c.1938dup NP_001295187.1:p.Lys647Ter NC_000003.12:149162829:T:TT p.(Lys647Ter) NC_000003.12:149162829:T:TT p.(Lys647Ter) ERR:SPDI Identity +NM_001845.6:c.3347A>T NP_001836.3:p.Glu1116Val NC_000013.11:110174504:T:A p.(Glu1116Val) NC_000013.11:110174504:T:A p.(Glu1116Val) NC_000013.11:110174504:T:A Identity +NM_001035.3:c.5980G>T NP_001026.2:p.Asp1994Tyr NC_000001.11:237623827:G:T p.(Asp1994Tyr) NC_000001.11:237623827:G:T p.(Asp1994Tyr) NC_000001.11:237623827:G:T Identity +NM_006662.3:c.1116G>C NP_006653.2:p.Glu372Asp NC_000016.10:30710109:G:C p.(Glu372Asp) NC_000016.10:30710109:G:C p.(Glu372Asp) NC_000016.10:30710109:G:C Identity +NM_001190709.2:c.1114A>G NP_001177638.1:p.Ile372Val NC_000001.11:103022755:T:C p.(Ile372Val) NC_000001.11:103022755:T:C p.(Ile372Val) NC_000001.11:103022755:T:C Identity +NM_001177984.3:c.1447C>G NP_001171455.1:p.Leu483Val NC_000012.12:51706526:C:G p.(Leu483Val) NC_000012.12:51706526:C:G p.(Leu483Val) NC_000012.12:51706526:C:G Identity +NM_001228.5:c.336del NP_001219.2:p.Ala113fs NC_000002.12:201269538:AA:A p.(Ala113GlnfsTer20) NC_000002.12:201269538:AA:A p.(Ala113GlnfsTer20) NC_000002.12:201269539:A: Analogous +NM_001256053.2:c.3229A>G NP_001242982.1:p.Ile1077Val NC_000010.11:27035217:T:C p.(Ile1077Val) NC_000010.11:27035217:T:C p.(Ile1077Val) NC_000010.11:27035217:T:C Identity +NM_001845.6:c.2491C>T NP_001836.3:p.Pro831Ser NC_000013.11:110178198:G:A p.(Pro831Ser) NC_000013.11:110178198:G:A p.(Pro831Ser) NC_000013.11:110178198:G:A Identity +NM_000401.3:c.1799C>T NP_000392.3:p.Pro600Leu NC_000011.10:44232389:C:T p.(Pro600Leu) NC_000011.10:44232389:C:T p.(Pro600Leu) NC_000011.10:44232389:C:T Identity +NM_001039659.2:c.577C>T NP_001034748.1:p.Gln193Ter NC_000011.10:72001852:C:T p.(Gln193Ter) NC_000011.10:72001852:C:T p.(Gln193Ter) NC_000011.10:72001852:C:T Identity +NM_001308301.1:c.1391T>G NP_001295230.1:p.Val464Gly NC_000016.10:46707749:A:C p.(Val464Gly) NC_000016.10:46707749:A:C p.(Val464Gly) NC_000016.10:46707749:A:C Identity +NM_000245.4:c.2590G>A NP_000236.2:p.Asp864Asn NC_000007.14:116769650:G:A p.(Asp864Asn) NC_000007.14:116769650:G:A p.(Asp864Asn) NC_000007.14:116769650:G:A Identity +NM_001001890.3:c.271G>A NP_001001890.1:p.Val91Met NC_000021.9:34880712:C:T p.(Val91Met) NC_000021.9:34880712:C:T p.(Val91Met) NC_000021.9:34880712:C:T Identity +NM_000361.3:c.1490C>G NP_000352.1:p.Pro497Arg NC_000020.11:23048014:G:C p.(Pro497Arg) NC_000020.11:23048014:G:C p.(Pro497Arg) NC_000020.11:23048014:G:C Identity +NM_001261826.3:c.2494A>G NP_001248755.1:p.Lys832Glu NC_000019.10:2114231:T:C p.(Lys832Glu) NC_000019.10:2114231:T:C p.(Lys832Glu) NC_000019.10:2114231:T:C Identity +NM_000214.3:c.3208G>A NP_000205.1:p.Val1070Ile NC_000020.11:10639946:C:T p.(Val1070Ile) NC_000020.11:10639946:C:T p.(Val1070Ile) NC_000020.11:10639946:C:T Identity +NM_001396000.1:c.500C>T NP_001382929.1:p.Pro167Leu NC_000019.10:41892734:C:T p.(Pro167Leu) NC_000019.10:41892734:C:T p.(Pro167Leu) NC_000019.10:41892734:C:T Identity +NM_000208.4:c.2741G>A NP_000199.2:p.Arg914His NC_000019.10:7132258:C:T p.(Arg914His) NC_000019.10:7132258:C:T p.(Arg914His) NC_000019.10:7132258:C:T Identity +NM_000553.6:c.4050G>T NP_000544.2:p.Met1350Ile NC_000008.11:31167088:G:T p.(Met1350Ile) NC_000008.11:31167088:G:T p.(Met1350Ile) NC_000008.11:31167088:G:T Identity +NM_001277115.2:c.12288G>T NP_001264044.1:p.Arg4096Ser NC_000007.14:21880793:G:T p.(Arg4096Ser) NC_000007.14:21880793:G:T p.(Arg4096Ser) NC_000007.14:21880793:G:T Identity +NM_000781.3:c.622G>T NP_000772.2:p.Glu208Ter NC_000015.10:74345046:C:A p.(Glu208Ter) NC_000015.10:74345046:C:A p.(Glu208Ter) NC_000015.10:74345046:C:A Identity +NM_001362843.2:c.151A>G NP_001349772.1:p.Thr51Ala NC_000022.11:41117242:A:G p.(Thr51Ala) NC_000022.11:41117242:A:G p.(Thr51Ala) NC_000022.11:41117242:A:G Identity +NM_032119.4:c.8714A>G NP_115495.3:p.Asn2905Ser NC_000005.10:90706377:A:G p.(Asn2905Ser) NC_000005.10:90706377:A:G p.(Asn2905Ser) NC_000005.10:90706377:A:G Identity +NM_001943.5:c.794T>A NP_001934.2:p.Val265Asp NC_000018.10:31524550:T:A p.(Val265Asp) NC_000018.10:31524550:T:A p.(Val265Asp) NC_000018.10:31524550:T:A Identity +NM_001167614.2:c.233C>A NP_001161086.1:p.Ala78Asp NC_000012.12:65169828:C:A p.(Ala78Asp) NC_000012.12:65169828:C:A p.(Ala78Asp) NC_000012.12:65169828:C:A Identity +NM_005458.8:c.1037G>A NP_005449.5:p.Arg346Gln NC_000009.12:98454179:C:T p.(Arg346Gln) NC_000009.12:98454179:C:T p.(Arg346Gln) NC_000009.12:98454179:C:T Identity +NM_001127617.2:c.760G>C NP_001121089.1:p.Val254Leu NC_000016.10:30069633:G:C p.(Val254Leu) NC_000016.10:30069633:G:C p.(Val254Leu) NC_000016.10:30069633:G:C Identity +NM_000755.5:c.444T>G NP_000746.3:p.Asp148Glu NC_000009.12:129103032:A:C p.(Asp148Glu) NC_000009.12:129103032:A:C p.(Asp148Glu) NC_000009.12:129103032:A:C Identity +NM_001033855.3:c.1502_1508del NP_001029027.1:p.Asp501fs NC_000010.11:14908978:CTCTCATCT:CT p.(Asp501ValfsTer41) NC_000010.11:14908978:CTCTCATCT:CT p.(Asp501ValfsTer41) NC_000010.11:14908978:CTCTCAT: Analogous +NM_032119.4:c.3908T>A NP_115495.3:p.Leu1303Ter NC_000005.10:90653481:T:A p.(Leu1303Ter) NC_000005.10:90653481:T:A p.(Leu1303Ter) NC_000005.10:90653481:T:A Identity +NM_000061.3:c.1761G>A NP_000052.1:p.Met587Ile NC_000023.11:101353340:C:T p.(Met587Ile) NC_000023.11:101353340:C:T p.(Met587Ile) NC_000023.11:101353340:C:T Identity +NM_015932.6:c.38G>A NP_057016.1:p.Ser13Asn NC_000013.11:28662443:G:A p.(Ser13Asn) NC_000013.11:28662443:G:A p.(Ser13Asn) NC_000013.11:28662443:G:A Identity +NM_002439.5:c.2269A>C NP_002430.3:p.Lys757Gln NC_000005.10:80775708:A:C p.(Lys757Gln) NC_000005.10:80775708:A:C p.(Lys757Gln) NC_000005.10:80775708:A:C Identity +NM_003737.4:c.7342G>A NP_003728.1:p.Val2448Met NC_000011.10:6624333:C:T p.(Val2448Met) NC_000011.10:6624333:C:T p.(Val2448Met) NC_000011.10:6624333:C:T Identity +NM_012452.3:c.561G>C NP_036584.1:p.Lys187Asn NC_000017.11:16940395:C:G p.(Lys187Asn) NC_000017.11:16940395:C:G p.(Lys187Asn) NC_000017.11:16940395:C:G Identity +NM_000165.5:c.733G>A NP_000156.1:p.Asp245Asn NC_000006.12:121447579:G:A p.(Asp245Asn) NC_000006.12:121447579:G:A p.(Asp245Asn) NC_000006.12:121447579:G:A Identity +NM_001303496.3:c.4430A>G NP_001290425.1:p.Tyr1477Cys NC_000007.14:93131541:T:C p.(Tyr1477Cys) NC_000007.14:93131541:T:C p.(Tyr1477Cys) NC_000007.14:93131541:T:C Identity +NM_002546.4:c.965G>C NP_002537.3:p.Ser322Thr NC_000008.11:118924614:C:G p.(Ser322Thr) NC_000008.11:118924614:C:G p.(Ser322Thr) NC_000008.11:118924614:C:G Identity +NM_003482.4:c.13423A>G NP_003473.3:p.Ser4475Gly NC_000012.12:49031281:T:C p.(Ser4475Gly) NC_000012.12:49031281:T:C p.(Ser4475Gly) NC_000012.12:49031281:T:C Identity +NM_001083961.2:c.3758C>T NP_001077430.1:p.Ser1253Leu NC_000019.10:36103585:C:T p.(Ser1253Leu) NC_000019.10:36103585:C:T p.(Ser1253Leu) NC_000019.10:36103585:C:T Identity +NM_014797.3:c.993del NP_055612.2:p.Phe331fs NC_000006.12:109476889:AAA:AA p.(Phe331LeufsTer29) NC_000006.12:109476889:AAA:AA p.(Phe331LeufsTer29) NC_000006.12:109476889:A: Analogous +NM_003054.6:c.46_55del NP_003045.2:p.Arg16fs NC_000010.11:117241736:GCCGCCGCTCGC:GC p.(Arg16GlyfsTer78) NC_000010.11:117241736:GCCGCCGCTCGC:GC p.(Arg16GlyfsTer78) NC_000010.11:117241738:CGCCGCTCGC: Analogous +NM_001184900.3:c.1592A>G NP_001171829.1:p.Tyr531Cys NC_000019.10:48211731:T:C p.(Tyr531Cys) NC_000019.10:48211731:T:C p.(Tyr531Cys) NC_000019.10:48211731:T:C Identity +NM_016616.5:c.1139G>T NP_057700.3:p.Ser380Ile NC_000007.14:37884446:G:T p.(Ser380Ile) NC_000007.14:37884446:G:T p.(Ser380Ile) NC_000007.14:37884446:G:T Identity +NM_001134335.2:c.1795C>G NP_001127807.1:p.Gln599Glu NC_000007.14:6024767:G:C p.(Gln599Glu) NC_000007.14:6024767:G:C p.(Gln599Glu) NC_000007.14:6024767:G:C Identity +NM_001126054.3:c.2489C>T NP_001119526.1:p.Ala830Val NC_000023.11:41523981:G:A p.(Ala830Val) NC_000023.11:41523981:G:A p.(Ala830Val) NC_000023.11:41523981:G:A Identity +NM_003737.4:c.9071C>T NP_003728.1:p.Ser3024Phe NC_000011.10:6622604:G:A p.(Ser3024Phe) NC_000011.10:6622604:G:A p.(Ser3024Phe) NC_000011.10:6622604:G:A Identity +NM_001042410.2:c.1933G>T NP_001035869.1:p.Glu645Ter NC_000002.12:219235836:G:T p.(Glu645Ter) NC_000002.12:219235836:G:T p.(Glu645Ter) NC_000002.12:219235836:G:T Identity +NM_020433.5:c.899G>A NP_065166.2:p.Arg300His NC_000020.11:44159887:C:T p.(Arg300His) NC_000020.11:44159887:C:T p.(Arg300His) NC_000020.11:44159887:C:T Identity +NM_001173479.2:c.1226G>A NP_001166950.1:p.Arg409His NC_000023.11:63638193:C:T p.(Arg409His) NC_000023.11:63638193:C:T p.(Arg409His) NC_000023.11:63638193:C:T Identity +NM_000314.8:c.47A>G NP_000305.3:p.Tyr16Cys NC_000010.11:87864515:A:G p.(Tyr16Cys) NC_000010.11:87864515:A:G p.(Tyr16Cys) NC_000010.11:87864515:A:G Identity +NM_006393.3:c.1112G>A NP_006384.1:p.Ser371Asn NC_000010.11:20850398:C:T p.(Ser371Asn) NC_000010.11:20850398:C:T p.(Ser371Asn) NC_000010.11:20850398:C:T Identity +NM_000254.3:c.2239_2240insA NP_000245.2:p.Leu747fs NC_000001.11:236862278::A p.(Leu747HisfsTer16) NC_000001.11:236862277:C:A p.(Leu747HisfsTer16) NC_000001.11:236862278:CT:A Analogous +NM_001378418.1:c.1586A>G NP_001365347.1:p.Asp529Gly NC_000022.11:42213719:T:C p.(Asp529Gly) NC_000022.11:42213719:T:C p.(Asp529Gly) NC_000022.11:42213719:T:C Identity +NM_001367624.2:c.4562dup NP_001354553.1:p.Val1523fs NC_000016.10:88432026:GGGGGG:GGGGGGG p.(Val1523GlyfsTer4) NC_000016.10:88432026:GGGGGG:GGGGGGG p.(Val1523GlyfsTer4) ERR:SPDI Analogous +NM_001363823.2:c.1793A>C NP_001350752.1:p.Gln598Pro NC_000002.12:32154440:A:C p.(Gln598Pro) NC_000002.12:32154440:A:C p.(Gln598Pro) NC_000002.12:32154440:A:C Identity +NM_080473.5:c.160C>G NP_536721.1:p.Gln54Glu NC_000020.11:62475361:G:C p.(Gln54Glu) NC_000020.11:62475361:G:C p.(Gln54Glu) NC_000020.11:62475361:G:C Identity +NM_001135649.3:c.395T>C NP_001129121.1:p.Leu132Pro NC_000002.12:88452140:A:G p.(Leu132Pro) NC_000002.12:88452140:A:G p.(Leu132Pro) NC_000002.12:88452140:A:G Identity +NM_000540.3:c.7744_7745del NP_000531.2:p.Met2582fs NC_000019.10:38502634:TAT:T p.(Met2582AlafsTer19) NC_000019.10:38502634:TAT:T p.(Met2582AlafsTer19) NC_000019.10:38502635:AT: Analogous +NM_001267722.2:c.397A>G NP_001254651.1:p.Arg133Gly NC_000004.12:56474095:A:G p.(Arg133Gly) NC_000004.12:56474095:A:G p.(Arg133Gly) NC_000004.12:56474095:A:G Identity +NM_001113178.3:c.1979G>A NP_001106649.1:p.Gly660Glu NC_000016.10:69691806:G:A p.(Gly660Glu) NC_000016.10:69691806:G:A p.(Gly660Glu) NC_000016.10:69691806:G:A Identity +NM_032119.4:c.15356T>G NP_115495.3:p.Val5119Gly NC_000005.10:90810615:T:G p.(Val5119Gly) NC_000005.10:90810615:T:G p.(Val5119Gly) NC_000005.10:90810615:T:G Identity +NM_002317.7:c.565A>G NP_002308.2:p.Thr189Ala NC_000005.10:122077420:T:C p.(Thr189Ala) NC_000005.10:122077420:T:C p.(Thr189Ala) NC_000005.10:122077420:T:C Identity +NM_001371986.1:c.4985G>A NP_001358915.1:p.Trp1662Ter NC_000002.12:209913895:G:A p.(Trp1662Ter) NC_000002.12:209913895:G:A p.(Trp1662Ter) NC_000002.12:209913895:G:A Identity +NM_001042749.2:c.3410G>A NP_001036214.1:p.Ser1137Asn NC_000023.11:124090706:G:A p.(Ser1137Asn) NC_000023.11:124090706:G:A p.(Ser1137Asn) NC_000023.11:124090706:G:A Identity +NM_000720.4:c.1756T>C NP_000711.1:p.Phe586Leu NC_000003.12:53723462:T:C p.(Phe586Leu) NC_000003.12:53723462:T:C p.(Phe586Leu) NC_000003.12:53723462:T:C Identity +NM_020461.4:c.2788C>A NP_065194.3:p.Pro930Thr NC_000022.11:50221570:G:T p.(Pro930Thr) NC_000022.11:50221570:G:T p.(Pro930Thr) NC_000022.11:50221570:G:T Identity +NM_030665.4:c.2836C>G NP_109590.3:p.Leu946Val NC_000017.11:17795783:C:G p.(Leu946Val) NC_000017.11:17795783:C:G p.(Leu946Val) NC_000017.11:17795783:C:G Identity +NM_001370534.1:c.1456A>G NP_001357463.1:p.Asn486Asp NC_000016.10:74632643:T:C p.(Asn486Asp) NC_000016.10:74632643:T:C p.(Asn486Asp) NC_000016.10:74632643:T:C Identity +NM_000478.6:c.1075A>G NP_000469.3:p.Ile359Val NC_000001.11:21575809:A:G p.(Ile359Val) NC_000001.11:21575809:A:G p.(Ile359Val) NC_000001.11:21575809:A:G Identity +NM_001319667.1:c.300G>A NP_001306596.1:p.Trp100Ter NC_000001.11:169470090:C:T p.(Trp100Ter) NC_000001.11:169470090:C:T p.(Trp100Ter) NC_000001.11:169470090:C:T Identity +NM_001303496.3:c.2596C>A NP_001290425.1:p.Gln866Lys NC_000007.14:93133375:G:T p.(Gln866Lys) NC_000007.14:93133375:G:T p.(Gln866Lys) NC_000007.14:93133375:G:T Identity +NM_001321299.2:c.67G>T NP_001308228.1:p.Ala23Ser NC_000017.11:42784130:G:T p.(Ala23Ser) NC_000017.11:42784130:G:T p.(Ala23Ser) NC_000017.11:42784130:G:T Identity +NM_004698.4:c.292G>A NP_004689.1:p.Asp98Asn NC_000001.11:150328334:G:A p.(Asp98Asn) NC_000001.11:150328334:G:A p.(Asp98Asn) NC_000001.11:150328334:G:A Identity +NM_001083899.2:c.849T>C NP_001077368.2:p.Asn283= NC_000019.10:55015095:A:G p.(Asn283=) NC_000019.10:55015095:A:G p.(Asn283=) NC_000019.10:55015095:A:G Identity +NM_001322033.2:c.1459G>A NP_001308962.1:p.Asp487Asn NC_000019.10:38723629:G:A p.(Asp487Asn) NC_000019.10:38723629:G:A p.(Asp487Asn) NC_000019.10:38723629:G:A Identity +NM_000748.3:c.1073G>C NP_000739.1:p.Arg358Pro NC_000001.11:154571895:G:C p.(Arg358Pro) NC_000001.11:154571895:G:C p.(Arg358Pro) NC_000001.11:154571895:G:C Identity +NM_001184705.4:c.493C>T NP_001171634.3:p.Arg165Ter NC_000004.12:108019612:C:T p.(Arg165Ter) NC_000004.12:108019612:C:T p.(Arg165Ter) NC_000004.12:108019612:C:T Identity +NM_001369.3:c.1948G>A NP_001360.1:p.Val650Met NC_000005.10:13901355:C:T p.(Val650Met) NC_000005.10:13901355:C:T p.(Val650Met) NC_000005.10:13901355:C:T Identity +NM_001278055.2:c.3107C>T NP_001264984.1:p.Pro1036Leu NC_000013.11:23340327:G:A p.(Pro1036Leu) NC_000013.11:23340327:G:A p.(Pro1036Leu) NC_000013.11:23340327:G:A Identity +NM_181840.1:c.1114T>C NP_862823.1:p.Phe372Leu NC_000010.11:117210257:T:C p.(Phe372Leu) NC_000010.11:117210257:T:C p.(Phe372Leu) NC_000010.11:117210257:T:C Identity +NM_016011.5:c.5G>A NP_057095.4:p.Trp2Ter NC_000001.11:29230901:C:T p.(Trp2Ter) NC_000001.11:29230901:C:T p.(Trp2Ter) NC_000001.11:29230901:C:T Identity +NM_006734.4:c.518C>G NP_006725.3:p.Ala173Gly NC_000006.12:142774220:G:C p.(Ala173Gly) NC_000006.12:142774220:G:C p.(Ala173Gly) NC_000006.12:142774220:G:C Identity +NM_000245.4:c.328G>A NP_000236.2:p.Gly110Ser NC_000007.14:116699411:G:A p.(Gly110Ser) NC_000007.14:116699411:G:A p.(Gly110Ser) NC_000007.14:116699411:G:A Identity +NM_001220.5:c.1564T>C NP_001211.3:p.Ser522Pro NC_000007.14:44226548:A:G p.(Ser522Pro) NC_000007.14:44226548:A:G p.(Ser522Pro) NC_000007.14:44226548:A:G Identity +NM_001081640.2:c.8194T>A NP_001075109.1:p.Phe2732Ile NC_000008.11:47831884:A:T p.(Phe2732Ile) NC_000008.11:47831884:A:T p.(Phe2732Ile) NC_000008.11:47831884:A:T Identity +NM_006015.6:c.5449G>C NP_006006.3:p.Val1817Leu NC_000001.11:26779346:G:C p.(Val1817Leu) NC_000001.11:26779346:G:C p.(Val1817Leu) NC_000001.11:26779346:G:C Identity +NM_003718.5:c.926C>T NP_003709.3:p.Ala309Val NC_000007.14:39951566:C:T p.(Ala309Val) NC_000007.14:39951566:C:T p.(Ala309Val) NC_000007.14:39951566:C:T Identity +NM_003482.4:c.13721G>A NP_003473.3:p.Ser4574Asn NC_000012.12:49030718:C:T p.(Ser4574Asn) NC_000012.12:49030718:C:T p.(Ser4574Asn) NC_000012.12:49030718:C:T Identity +NM_014727.3:c.1300C>G NP_055542.1:p.Pro434Ala NC_000019.10:35720646:C:G p.(Pro434Ala) NC_000019.10:35720646:C:G p.(Pro434Ala) NC_000019.10:35720646:C:G Identity +NM_001098.3:c.1898G>T NP_001089.1:p.Arg633Leu NC_000022.11:41526397:G:T p.(Arg633Leu) NC_000022.11:41526397:G:T p.(Arg633Leu) NC_000022.11:41526397:G:T Identity +NM_014510.3:c.2644C>T NP_055325.2:p.Arg882Ter NC_000007.14:83134905:G:A p.(Arg882Ter) NC_000007.14:83134905:G:A p.(Arg882Ter) NC_000007.14:83134905:G:A Identity +NM_001297764.2:c.480_481del NP_001284693.1:p.Ser161fs NC_000011.10:17527237:ACACA:ACA p.(Ser161HisfsTer16) NC_000011.10:17527237:ACACA:ACA p.(Ser161HisfsTer16) NC_000011.10:17527237:AC: Analogous +NM_006766.5:c.3760C>T NP_006757.2:p.Pro1254Ser NC_000008.11:41934459:G:A p.(Pro1254Ser) NC_000008.11:41934459:G:A p.(Pro1254Ser) NC_000008.11:41934459:G:A Identity +NM_001146282.2:c.392A>G NP_001139754.1:p.Lys131Arg NC_000014.9:35011561:A:G p.(Lys131Arg) NC_000014.9:35011561:A:G p.(Lys131Arg) NC_000014.9:35011561:A:G Identity +NM_032603.5:c.824G>T NP_115992.1:p.Gly275Val NC_000002.12:74536796:C:A p.(Gly275Val) NC_000002.12:74536796:C:A p.(Gly275Val) NC_000002.12:74536796:C:A Identity +NM_017890.5:c.2750_2751del NP_060360.3:p.Glu917fs NC_000008.11:99275177:AGAG:AG p.(Glu917ValfsTer19) NC_000008.11:99275177:AGAG:AG p.(Glu917ValfsTer19) NC_000008.11:99275179:AG: Analogous +NM_001048171.2:c.1018A>G NP_001041636.2:p.Arg340Gly NC_000001.11:45331744:T:C p.(Arg340Gly) NC_000001.11:45331744:T:C p.(Arg340Gly) NC_000001.11:45331744:T:C Identity +NM_000218.3:c.869A>G NP_000209.2:p.Glu290Gly NC_000011.10:2572933:A:G p.(Glu290Gly) NC_000011.10:2572933:A:G p.(Glu290Gly) NC_000011.10:2572933:A:G Identity +NM_006662.3:c.3080C>T NP_006653.2:p.Pro1027Leu NC_000016.10:30720804:C:T p.(Pro1027Leu) NC_000016.10:30720804:C:T p.(Pro1027Leu) NC_000016.10:30720804:C:T Identity +NM_020921.4:c.3391C>T NP_065972.4:p.Arg1131Ter NC_000014.9:50757638:G:A p.(Arg1131Ter) NC_000014.9:50757638:G:A p.(Arg1131Ter) NC_000014.9:50757638:G:A Identity +NM_020778.5:c.757G>A NP_065829.4:p.Gly253Arg NC_000015.10:84840035:G:A p.(Gly253Arg) NC_000015.10:84840035:G:A p.(Gly253Arg) NC_000015.10:84840035:G:A Identity +NM_001018113.3:c.360G>A NP_001018123.1:p.Met120Ile NC_000023.11:14865150:C:T p.(Met120Ile) NC_000023.11:14865150:C:T p.(Met120Ile) NC_000023.11:14865150:C:T Identity +NM_025074.7:c.7444_7448del NP_079350.5:p.Glu2482fs NC_000004.12:78472249:ATGAGAT:AT p.(Glu2482AsnfsTer5) NC_000004.12:78472249:ATGAGAT:AT p.(Glu2482AsnfsTer5) NC_000004.12:78472251:GAGAT: Analogous +NM_003737.4:c.4346C>T NP_003728.1:p.Pro1449Leu NC_000011.10:6630447:G:A p.(Pro1449Leu) NC_000011.10:6630447:G:A p.(Pro1449Leu) NC_000011.10:6630447:G:A Identity +NM_003482.4:c.6772C>A NP_003473.3:p.Pro2258Thr NC_000012.12:49040997:G:T p.(Pro2258Thr) NC_000012.12:49040997:G:T p.(Pro2258Thr) NC_000012.12:49040997:G:T Identity +NM_001127231.3:c.1155G>C NP_001120703.1:p.Gln385His NC_000007.14:70763281:G:C p.(Gln385His) NC_000007.14:70763281:G:C p.(Gln385His) NC_000007.14:70763281:G:C Identity +NM_000061.3:c.1822G>A NP_000052.1:p.Glu608Lys NC_000023.11:101353279:C:T p.(Glu608Lys) NC_000023.11:101353279:C:T p.(Glu608Lys) NC_000023.11:101353279:C:T Identity +NM_004982.4:c.1236T>G NP_004973.1:p.Phe412Leu NC_000012.12:21765761:A:C p.(Phe412Leu) NC_000012.12:21765761:A:C p.(Phe412Leu) NC_000012.12:21765761:A:C Identity +NM_003079.5:c.562A>T NP_003070.3:p.Met188Leu NC_000017.11:40632346:T:A p.(Met188Leu) NC_000017.11:40632346:T:A p.(Met188Leu) NC_000017.11:40632346:T:A Identity +NM_000334.4:c.3535G>A NP_000325.4:p.Val1179Ile NC_000017.11:63945544:C:T p.(Val1179Ile) NC_000017.11:63945544:C:T p.(Val1179Ile) NC_000017.11:63945544:C:T Identity +NM_001605.3:c.1294A>C NP_001596.2:p.Lys432Gln NC_000016.10:70265590:T:G p.(Lys432Gln) NC_000016.10:70265590:T:G p.(Lys432Gln) NC_000016.10:70265590:T:G Identity +NM_001042594.2:c.784C>T NP_001036059.1:p.His262Tyr NC_000007.14:124841164:G:A p.(His262Tyr) NC_000007.14:124841164:G:A p.(His262Tyr) NC_000007.14:124841164:G:A Identity +NM_001425749.1:c.403A>G NP_001412678.1:p.Asn135Asp NC_000016.10:81858327:A:G p.(Asn135Asp) NC_000016.10:81858327:A:G p.(Asn135Asp) NC_000016.10:81858327:A:G Identity +NM_001354663.2:c.2382T>G NP_001341592.1:p.Phe794Leu NC_000003.12:193667212:T:G p.(Phe794Leu) NC_000003.12:193667212:T:G p.(Phe794Leu) NC_000003.12:193667212:T:G Identity +NM_032119.4:c.1097C>T NP_115495.3:p.Thr366Ile NC_000005.10:90627634:C:T p.(Thr366Ile) NC_000005.10:90627634:C:T p.(Thr366Ile) NC_000005.10:90627634:C:T Identity +NM_001197104.2:c.7469T>C NP_001184033.1:p.Ile2490Thr NC_000011.10:118503360:T:C p.(Ile2490Thr) NC_000011.10:118503360:T:C p.(Ile2490Thr) NC_000011.10:118503360:T:C Identity +NM_017633.3:c.464A>G NP_060103.2:p.Gln155Arg NC_000006.12:81751677:T:C p.(Gln155Arg) NC_000006.12:81751677:T:C p.(Gln155Arg) NC_000006.12:81751677:T:C Identity +NM_014727.3:c.2170G>T NP_055542.1:p.Ala724Ser NC_000019.10:35721516:G:T p.(Ala724Ser) NC_000019.10:35721516:G:T p.(Ala724Ser) NC_000019.10:35721516:G:T Identity +NM_006766.5:c.3970C>G NP_006757.2:p.Leu1324Val NC_000008.11:41934249:G:C p.(Leu1324Val) NC_000008.11:41934249:G:C p.(Leu1324Val) NC_000008.11:41934249:G:C Identity +NM_001367624.2:c.634dup NP_001354553.1:p.Gln212fs NC_000016.10:88428097:CCCCCCC:CCCCCCCC p.(Gln212ProfsTer29) NC_000016.10:88428097:CCCCCCC:CCCCCCCC p.(Gln212ProfsTer29) ERR:SPDI Analogous +NM_012327.6:c.11del NP_036459.1:p.Phe4fs NC_000018.10:62161342:AA:A p.(Phe4SerfsTer29) NC_000018.10:62161342:AA:A p.(Phe4SerfsTer29) NC_000018.10:62161342:A: Analogous +NM_001130066.2:c.3773G>A NP_001123538.1:p.Arg1258His NC_000006.12:33447868:G:A p.(Arg1258His) NC_000006.12:33447868:G:A p.(Arg1258His) NC_000006.12:33447868:G:A Identity +NM_001330343.2:c.220C>T NP_001317272.1:p.Arg74Cys NC_000012.12:8605421:G:A p.(Arg74Cys) NC_000012.12:8605421:G:A p.(Arg74Cys) NC_000012.12:8605421:G:A Identity +NM_000095.3:c.1951C>T NP_000086.2:p.Arg651Trp NC_000019.10:18784326:G:A p.(Arg651Trp) NC_000019.10:18784326:G:A p.(Arg651Trp) NC_000019.10:18784326:G:A Identity +NM_000028.3:c.2936delG NP_000019.2:p.Gly979Glufs NC_000001.11:99891341:GG:G p.(Gly979GlufsTer17) NC_000001.11:99891341:GG:G p.(Gly979GlufsTer17) NC_000001.11:99891342:G: Analogous +NM_001127384.3:c.152G>A NP_001120856.1:p.Arg51His NC_000010.11:67606996:C:T p.(Arg51His) NC_000010.11:67606996:C:T p.(Arg51His) NC_000010.11:67606996:C:T Identity +NM_001165966.2:c.1741C>T NP_001159438.1:p.Arg581Trp NC_000017.11:6468265:G:A p.(Arg581Trp) NC_000017.11:6468265:G:A p.(Arg581Trp) NC_000017.11:6468265:G:A Identity +NM_001364858.1:c.620C>T NP_001351787.1:p.Ser207Phe NC_000007.14:4785639:C:T p.(Ser207Phe) NC_000007.14:4785639:C:T p.(Ser207Phe) NC_000007.14:4785639:C:T Identity +NM_001278268.2:c.761G>T NP_001265197.1:p.Cys254Phe NC_000018.10:62368719:G:T p.(Cys254Phe) NC_000018.10:62368719:G:T p.(Cys254Phe) NC_000018.10:62368719:G:T Identity +NM_001145527.2:c.1199A>C NP_001138999.1:p.Glu400Ala NC_000009.12:137752358:A:C p.(Glu400Ala) NC_000009.12:137752358:A:C p.(Glu400Ala) NC_000009.12:137752358:A:C Identity +NM_001128148.3:c.653G>T NP_001121620.1:p.Gly218Val NC_000003.12:196071429:C:A p.(Gly218Val) NC_000003.12:196071429:C:A p.(Gly218Val) NC_000003.12:196071429:C:A Identity +NM_001410755.1:c.1052C>A NP_001397684.1:p.Ser351Tyr NC_000001.11:15727183:C:A p.(Ser351Tyr) NC_000001.11:15727183:C:A p.(Ser351Tyr) NC_000001.11:15727183:C:A Identity +NM_000038.6:c.1487C>A NP_000029.2:p.Thr496Lys NC_000005.10:112827185:C:A p.(Thr496Lys) NC_000005.10:112827185:C:A p.(Thr496Lys) NC_000005.10:112827185:C:A Identity +NM_001135.4:c.1508C>T NP_001126.3:p.Thr503Met NC_000015.10:88847320:C:T p.(Thr503Met) NC_000015.10:88847320:C:T p.(Thr503Met) NC_000015.10:88847320:C:T Identity +NM_020778.5:c.2005A>G NP_065829.4:p.Thr669Ala NC_000015.10:84856742:A:G p.(Thr669Ala) NC_000015.10:84856742:A:G p.(Thr669Ala) NC_000015.10:84856742:A:G Identity +NM_001206927.2:c.1835T>A NP_001193856.1:p.Ile612Asn NC_000006.12:38775823:T:A p.(Ile612Asn) NC_000006.12:38775823:T:A p.(Ile612Asn) NC_000006.12:38775823:T:A Identity +NM_152309.3:c.1543A>G NP_689522.2:p.Thr515Ala NC_000010.11:96626833:T:C p.(Thr515Ala) NC_000010.11:96626833:T:C p.(Thr515Ala) NC_000010.11:96626833:T:C Identity +NM_006767.4:c.2201T>A NP_006758.2:p.Met734Lys NC_000022.11:20996093:T:A p.(Met734Lys) NC_000022.11:20996093:T:A p.(Met734Lys) NC_000022.11:20996093:T:A Identity +NM_172364.5:c.121C>G NP_758952.4:p.Pro41Ala NC_000012.12:1918352:G:C p.(Pro41Ala) NC_000012.12:1918352:G:C p.(Pro41Ala) NC_000012.12:1918352:G:C Identity +NM_001105206.3:c.4694G>A NP_001098676.2:p.Gly1565Asp NC_000006.12:112119282:C:T p.(Gly1565Asp) NC_000006.12:112119282:C:T p.(Gly1565Asp) NC_000006.12:112119282:C:T Identity +NM_001143838.3:c.646del NP_001137310.1:p.Ala216fs NC_000017.11:6703039:CC:C p.(Ala216ProfsTer9) NC_000017.11:6703039:CC:C p.(Ala216ProfsTer9) NC_000017.11:6703039:C: Analogous +NM_000721.4:c.104A>G NP_000712.2:p.Gln35Arg NC_000001.11:181483847:A:G p.(Gln35Arg) NC_000001.11:181483847:A:G p.(Gln35Arg) NC_000001.11:181483847:A:G Identity +NM_001203265.2:c.1413C>G NP_001190194.2:p.Asp471Glu NC_000003.12:9932844:C:G p.(Asp471Glu) NC_000003.12:9932844:C:G p.(Asp471Glu) NC_000003.12:9932844:C:G Identity +NM_001257281.2:c.1321G>A NP_001244210.1:p.Val441Ile NC_000002.12:232249241:G:A p.(Val441Ile) NC_000002.12:232249241:G:A p.(Val441Ile) NC_000002.12:232249241:G:A Identity +NM_001321080.2:c.1691T>G NP_001308009.1:p.Ile564Arg NC_000006.12:104776781:A:C p.(Ile564Arg) NC_000006.12:104776781:A:C p.(Ile564Arg) NC_000006.12:104776781:A:C Identity +NM_000489.6:c.3289C>T NP_000480.3:p.Leu1097Phe NC_000023.11:77681966:G:A p.(Leu1097Phe) NC_000023.11:77681966:G:A p.(Leu1097Phe) NC_000023.11:77681966:G:A Identity +NM_001142966.3:c.901G>C NP_001136438.1:p.Gly301Arg NC_000018.10:21439588:G:C p.(Gly301Arg) NC_000018.10:21439588:G:C p.(Gly301Arg) NC_000018.10:21439588:G:C Identity +NM_001077397.1:c.409C>G NP_001070865.1:p.Arg137Gly NC_000001.11:234609085:G:C p.(Arg137Gly) NC_000001.11:234609085:G:C p.(Arg137Gly) NC_000001.11:234609085:G:C Identity +NM_152383.5:c.1744G>T NP_689596.4:p.Val582Leu NC_000002.12:232329816:G:T p.(Val582Leu) NC_000002.12:232329816:G:T p.(Val582Leu) NC_000002.12:232329816:G:T Identity +NM_001287424.2:c.375G>T NP_001274353.1:p.Lys125Asn NC_000019.10:33302144:C:A p.(Lys125Asn) NC_000019.10:33302144:C:A p.(Lys125Asn) NC_000019.10:33302144:C:A Identity +NM_004369.4:c.692C>A NP_004360.2:p.Thr231Asn NC_000002.12:237394603:G:T p.(Thr231Asn) NC_000002.12:237394603:G:T p.(Thr231Asn) NC_000002.12:237394603:G:T Identity +NM_001166133.2:c.5869G>A NP_001159605.1:p.Glu1957Lys NC_000004.12:78445724:G:A p.(Glu1957Lys) NC_000004.12:78445724:G:A p.(Glu1957Lys) NC_000004.12:78445724:G:A Identity +NM_000245.4:c.1730G>A NP_000236.2:p.Gly577Glu NC_000007.14:116755382:G:A p.(Gly577Glu) NC_000007.14:116755382:G:A p.(Gly577Glu) NC_000007.14:116755382:G:A Identity +NM_000136.3:c.1563dup NP_000127.2:p.Ile522fs NC_000009.12:95101820:C:CC p.(Ile522AspfsTer6) NC_000009.12:95101820:C:CC p.(Ile522AspfsTer6) ERR:SPDI Analogous +NM_001135649.3:c.307G>A NP_001129121.1:p.Gly103Ser NC_000002.12:88452228:C:T p.(Gly103Ser) NC_000002.12:88452228:C:T p.(Gly103Ser) NC_000002.12:88452228:C:T Identity +NM_002238.4:c.2828T>G NP_002229.1:p.Leu943Trp NC_000001.11:210683341:A:C p.(Leu943Trp) NC_000001.11:210683341:A:C p.(Leu943Trp) NC_000001.11:210683341:A:C Identity +NM_001377273.1:c.1889C>T NP_001364202.1:p.Ser630Phe NC_000012.12:21887847:G:A p.(Ser630Phe) NC_000012.12:21887847:G:A p.(Ser630Phe) NC_000012.12:21887847:G:A Identity +NM_005144.5:c.2891C>T NP_005135.2:p.Ala964Val NC_000008.11:22119845:G:A p.(Ala964Val) NC_000008.11:22119845:G:A p.(Ala964Val) NC_000008.11:22119845:G:A Identity +NM_001844.5:c.3413T>A NP_001835.3:p.Leu1138Gln NC_000012.12:47976833:A:T p.(Leu1138Gln) NC_000012.12:47976833:A:T p.(Leu1138Gln) NC_000012.12:47976833:A:T Identity +NM_001080114.2:c.1430T>C NP_001073583.1:p.Val477Ala NC_000010.11:86718046:T:C p.(Val477Ala) NC_000010.11:86718046:T:C p.(Val477Ala) NC_000010.11:86718046:T:C Identity +NM_000303.3:c.206C>T NP_000294.1:p.Pro69Leu NC_000016.10:8804793:C:T p.(Pro69Leu) NC_000016.10:8804793:C:T p.(Pro69Leu) NC_000016.10:8804793:C:T Identity +NM_005744.5:c.158G>A NP_005735.2:p.Gly53Asp NC_000015.10:72474796:G:A p.(Gly53Asp) NC_000015.10:72474796:G:A p.(Gly53Asp) NC_000015.10:72474796:G:A Identity +NM_001164317.2:c.7624G>A NP_001157789.1:p.Asp2542Asn NC_000003.12:58169702:G:A p.(Asp2542Asn) NC_000003.12:58169702:G:A p.(Asp2542Asn) NC_000003.12:58169702:G:A Identity +NM_001100913.3:c.2188G>T NP_001094383.2:p.Ala730Ser NC_000014.9:105391698:G:T p.(Ala730Ser) NC_000014.9:105391698:G:T p.(Ala730Ser) NC_000014.9:105391698:G:T Identity +NM_015488.5:c.1079C>T NP_056303.3:p.Pro360Leu NC_000002.12:218344901:C:T p.(Pro360Leu) NC_000002.12:218344901:C:T p.(Pro360Leu) NC_000002.12:218344901:C:T Identity +NM_016562.4:c.1127G>A NP_057646.1:p.Arg376Gln NC_000023.11:12886634:G:A p.(Arg376Gln) NC_000023.11:12886634:G:A p.(Arg376Gln) NC_000023.11:12886634:G:A Identity +NM_015335.5:c.1649C>G NP_056150.1:p.Ser550Cys NC_000012.12:116008763:G:C p.(Ser550Cys) NC_000012.12:116008763:G:C p.(Ser550Cys) NC_000012.12:116008763:G:C Identity +NM_005262.3:c.449del NP_005253.3:p.Arg150fs NC_000016.10:1984936:G: p.(Arg150LysfsTer28) NC_000016.10:1984936:G: p.(Arg150LysfsTer28) NC_000016.10:1984936:G: Analogous +NM_001354664.2:c.128C>T NP_001341593.1:p.Pro43Leu NC_000003.12:193617228:C:T p.(Pro43Leu) NC_000003.12:193617228:C:T p.(Pro43Leu) NC_000003.12:193617228:C:T Identity +NM_001177984.3:c.571C>T NP_001171455.1:p.Arg191Trp NC_000012.12:51687175:C:T p.(Arg191Trp) NC_000012.12:51687175:C:T p.(Arg191Trp) NC_000012.12:51687175:C:T Identity +NM_001160227.2:c.2387_2388dup NP_001153699.1:p.Glu797fs NC_000015.10:44622275:AA:AAAA p.(Glu797LeufsTer23) NC_000015.10:44622275:AA:AAAA p.(Glu797LeufsTer23) ERR:SPDI Analogous +NM_001081640.2:c.8253A>T NP_001075109.1:p.Gln2751His NC_000008.11:47831825:T:A p.(Gln2751His) NC_000008.11:47831825:T:A p.(Gln2751His) NC_000008.11:47831825:T:A Identity +NM_002427.4:c.779_786del NP_002418.1:p.Gln260fs NC_000011.10:102952024:GATCCCTTG:G p.(Gln260ProfsTer9) NC_000011.10:102952024:GATCCCTTG:G p.(Gln260ProfsTer9) NC_000011.10:102952024:GATCCCTT: Analogous +NM_001321309.2:c.1096G>C NP_001308238.1:p.Val366Leu NC_000003.12:123725970:C:G p.(Val366Leu) NC_000003.12:123725970:C:G p.(Val366Leu) NC_000003.12:123725970:C:G Identity +NM_017780.4:c.5062C>T NP_060250.2:p.Pro1688Ser NC_000008.11:60845260:C:T p.(Pro1688Ser) NC_000008.11:60845260:C:T p.(Pro1688Ser) NC_000008.11:60845260:C:T Identity +NM_001207014.3:c.889A>G NP_001193943.1:p.Met297Val NC_000011.10:75569105:A:G p.(Met297Val) NC_000011.10:75569105:A:G p.(Met297Val) NC_000011.10:75569105:A:G Identity +NM_001271.4:c.3821A>T NP_001262.3:p.Tyr1274Phe NC_000015.10:92997338:A:T p.(Tyr1274Phe) NC_000015.10:92997338:A:T p.(Tyr1274Phe) NC_000015.10:92997338:A:T Identity +NM_001425749.1:c.871C>G NP_001412678.1:p.Leu291Val NC_000016.10:81891474:C:G p.(Leu291Val) NC_000016.10:81891474:C:G p.(Leu291Val) NC_000016.10:81891474:C:G Identity +NM_016562.4:c.862G>A NP_057646.1:p.Ala288Thr NC_000023.11:12886369:G:A p.(Ala288Thr) NC_000023.11:12886369:G:A p.(Ala288Thr) NC_000023.11:12886369:G:A Identity +NM_001160036.2:c.2146A>C NP_001153508.1:p.Lys716Gln NC_000008.11:23017364:A:C p.(Lys716Gln) NC_000008.11:23017364:A:C p.(Lys716Gln) NC_000008.11:23017364:A:C Identity +NM_003482.4:c.6941C>T NP_003473.3:p.Thr2314Ile NC_000012.12:49040828:G:A p.(Thr2314Ile) NC_000012.12:49040828:G:A p.(Thr2314Ile) NC_000012.12:49040828:G:A Identity +NM_001315529.2:c.7138C>T NP_001302458.1:p.Gln2380Ter NC_000021.9:46427792:C:T p.(Gln2380Ter) NC_000021.9:46427792:C:T p.(Gln2380Ter) NC_000021.9:46427792:C:T Identity +NM_000234.3:c.148G>T NP_000225.1:p.Asp50Tyr NC_000019.10:48161466:C:A p.(Asp50Tyr) NC_000019.10:48161466:C:A p.(Asp50Tyr) NC_000019.10:48161466:C:A Identity +NM_001130438.3:c.5818G>C NP_001123910.1:p.Asp1940His NC_000009.12:128621241:G:C p.(Asp1940His) NC_000009.12:128621241:G:C p.(Asp1940His) NC_000009.12:128621241:G:C Identity +NM_000313.4:c.1185_1188dup NP_000304.2:p.Ile397Ter NC_000003.12:93886470:GCTA:GCTAGCTA p.(Ile397Ter) NC_000003.12:93886470:GCTA:GCTAGCTA p.(Ile397Ter) ERR:SPDI Identity +NM_138701.4:c.59G>A NP_619646.1:p.Gly20Asp NC_000007.14:40134508:C:T p.(Gly20Asp) NC_000007.14:40134508:C:T p.(Gly20Asp) NC_000007.14:40134508:C:T Identity +NM_001845.6:c.1547G>A NP_001836.3:p.Gly516Asp NC_000013.11:110187318:C:T p.(Gly516Asp) NC_000013.11:110187318:C:T p.(Gly516Asp) NC_000013.11:110187318:C:T Identity +NM_001128602.2:c.1413_1414del NP_001122074.1:p.Phe471fs NC_000015.10:38502330:AGA:A p.(Phe471LeufsTer15) NC_000015.10:38502330:AGA:A p.(Phe471LeufsTer15) NC_000015.10:38502330:AG: Analogous +NM_001195227.2:c.2346G>A NP_001182156.1:p.Met782Ile NC_000019.10:49200612:G:A p.(Met782Ile) NC_000019.10:49200612:G:A p.(Met782Ile) NC_000019.10:49200612:G:A Identity +NM_000109.4:c.4545A>G NP_000100.3:p.Ile1515Met NC_000023.11:32386414:T:C p.(Ile1515Met) NC_000023.11:32386414:T:C p.(Ile1515Met) NC_000023.11:32386414:T:C Identity +NM_001424108.1:c.1048A>G NP_001411037.1:p.Ile350Val NC_000006.12:33180723:T:C p.(Ile350Val) NC_000006.12:33180723:T:C p.(Ile350Val) NC_000006.12:33180723:T:C Identity +NM_000553.6:c.3201A>C NP_000544.2:p.Glu1067Asp NC_000008.11:31141742:A:C p.(Glu1067Asp) NC_000008.11:31141742:A:C p.(Glu1067Asp) NC_000008.11:31141742:A:C Identity +NM_004459.7:c.3173G>A NP_004450.3:p.Arg1058Lys NC_000017.11:67904822:G:A p.(Arg1058Lys) NC_000017.11:67904822:G:A p.(Arg1058Lys) NC_000017.11:67904822:G:A Identity +NM_001173479.2:c.508G>A NP_001166950.1:p.Ala170Thr NC_000023.11:63678466:C:T p.(Ala170Thr) NC_000023.11:63678466:C:T p.(Ala170Thr) NC_000023.11:63678466:C:T Identity +NM_020987.5:c.4673C>T NP_066267.2:p.Thr1558Ile NC_000010.11:60076207:G:A p.(Thr1558Ile) NC_000010.11:60076207:G:A p.(Thr1558Ile) NC_000010.11:60076207:G:A Identity +NM_001174116.3:c.8131A>G NP_001167587.1:p.Lys2711Glu NC_000015.10:51458509:T:C p.(Lys2711Glu) NC_000015.10:51458509:T:C p.(Lys2711Glu) NC_000015.10:51458509:T:C Identity +NM_000455.5:c.715_719dup NP_000446.1:p.Ala241fs NC_000019.10:1220695:TCTGGTC:TCTGGTCTGGTC p.(Ala241GlyfsTer48) NC_000019.10:1220695:TCTGGTC:TCTGGTCTGGTC p.(Ala241GlyfsTer48) ERR:SPDI Analogous +NM_005188.4:c.1145A>G NP_005179.2:p.Lys382Arg NC_000011.10:119278214:A:G p.(Lys382Arg) NC_000011.10:119278214:A:G p.(Lys382Arg) NC_000011.10:119278214:A:G Identity +NM_001081.4:c.5434T>C NP_001072.2:p.Cys1812Arg NC_000010.11:16940145:A:G p.(Cys1812Arg) NC_000010.11:16940145:A:G p.(Cys1812Arg) NC_000010.11:16940145:A:G Identity +NM_138395.4:c.752C>T NP_612404.1:p.Pro251Leu NC_000002.12:197706156:C:T p.(Pro251Leu) NC_000002.12:197706156:C:T p.(Pro251Leu) NC_000002.12:197706156:C:T Identity +NM_001040113.2:c.4336C>T NP_001035202.1:p.Gln1446Ter NC_000016.10:15724210:G:A p.(Gln1446Ter) NC_000016.10:15724210:G:A p.(Gln1446Ter) NC_000016.10:15724210:G:A Identity +NM_001345868.2:c.66del NP_001332797.1:p.Ala23fs NC_000004.12:44678686:CC:C p.(Ala23ArgfsTer62) NC_000004.12:44678686:CC:C p.(Ala23ArgfsTer62) NC_000004.12:44678687:C: Analogous +NM_001142605.2:c.939dup NP_001136077.1:p.Phe314fs NC_000017.11:44868300:G:GG p.(Phe314LeufsTer4) NC_000017.11:44868300:G:GG p.(Phe314LeufsTer4) ERR:SPDI Analogous +NM_001199917.2:c.704C>G NP_001186846.1:p.Ser235Ter NC_000006.12:83181902:G:C p.(Ser235Ter) NC_000006.12:83181902:G:C p.(Ser235Ter) NC_000006.12:83181902:G:C Identity +NM_001039375.3:c.626dup NP_001034464.1:p.Thr210fs NC_000020.11:13801675:T:TT p.(Thr210AspfsTer5) NC_000020.11:13801675:T:TT p.(Thr210AspfsTer5) ERR:SPDI Analogous +NM_001316690.1:c.800A>G NP_001303619.1:p.Glu267Gly NC_000008.11:60742231:A:G p.(Glu267Gly) NC_000008.11:60742231:A:G p.(Glu267Gly) NC_000008.11:60742231:A:G Identity +NM_001256820.2:c.98C>A NP_001243749.1:p.Ala33Asp NC_000001.11:155904761:G:T p.(Ala33Asp) NC_000001.11:155904761:G:T p.(Ala33Asp) NC_000001.11:155904761:G:T Identity +NM_001008540.2:c.603del NP_001008540.1:p.Val202fs NC_000002.12:136115336:AA:A p.(Val202CysfsTer93) NC_000002.12:136115336:AA:A p.(Val202CysfsTer93) NC_000002.12:136115336:A: Analogous +NM_001164716.1:c.45_67del NP_001158188.1:p.Ser15fs NC_000011.10:64759831:CCACGCCGGCCAGGCCACGCACAC:C p.(Ser15ArgfsTer5) NC_000011.10:64759831:CCACGCCGGCCAGGCCACGCACAC:C p.(Ser15ArgfsTer5) NC_000011.10:64759831:CCACGCCGGCCAGGCCACGCACA: Analogous +NM_138459.5:c.170G>T NP_612468.1:p.Arg57Leu NC_000006.12:117675839:G:T p.(Arg57Leu) NC_000006.12:117675839:G:T p.(Arg57Leu) NC_000006.12:117675839:G:T Identity +NM_001002019.3:c.421_422del NP_001002019.1:p.Lys141fs NC_000012.12:131939233:AAAA:AA p.(Lys141AspfsTer22) NC_000012.12:131939233:AAAA:AA p.(Lys141AspfsTer22) NC_000012.12:131939235:AA: Analogous +NM_001042749.2:c.868A>C NP_001036214.1:p.Lys290Gln NC_000023.11:124049052:A:C p.(Lys290Gln) NC_000023.11:124049052:A:C p.(Lys290Gln) NC_000023.11:124049052:A:C Identity +NM_001128844.3:c.1920G>T NP_001122316.1:p.Glu640Asp NC_000019.10:11003135:G:T p.(Glu640Asp) NC_000019.10:11003135:G:T p.(Glu640Asp) NC_000019.10:11003135:G:T Identity +NM_001304420.3:c.2302T>C NP_001291349.1:p.Phe768Leu NC_000003.12:57922930:T:C p.(Phe768Leu) NC_000003.12:57922930:T:C p.(Phe768Leu) NC_000003.12:57922930:T:C Identity +NM_007123.6:c.271A>T NP_009054.6:p.Arg91Ter NC_000001.11:216422065:T:A p.(Arg91Ter) NC_000001.11:216422065:T:A p.(Arg91Ter) NC_000001.11:216422065:T:A Identity +NM_004463.3:c.578del NP_004454.2:p.Arg193fs NC_000023.11:54470663:C: p.(Arg193GlnfsTer22) NC_000023.11:54470663:C: p.(Arg193GlnfsTer22) NC_000023.11:54470663:C: Analogous +NM_001347827.2:c.1A>G NP_001334756.1:p.Met1Val NC_000004.12:54258768:A:G p.(Met1Val) NC_000004.12:54258768:A:G p.Met1? NC_000004.12:54258768:A:G Identity +NM_001130066.2:c.2945C>G NP_001123538.1:p.Pro982Arg NC_000006.12:33443538:C:G p.(Pro982Arg) NC_000006.12:33443538:C:G p.(Pro982Arg) NC_000006.12:33443538:C:G Identity +NM_015560.3:c.1386del NP_056375.2:p.Ile463fs NC_000003.12:193644046:CC:C p.(Ile463TyrfsTer4) NC_000003.12:193644046:CC:C p.(Ile463TyrfsTer4) NC_000003.12:193644047:C: Analogous +NM_000434.4:c.1015G>A NP_000425.1:p.Glu339Lys NC_000006.12:31860047:C:T p.(Glu339Lys) NC_000006.12:31860047:C:T p.(Glu339Lys) NC_000006.12:31860047:C:T Identity +NM_001367624.2:c.4320G>C NP_001354553.1:p.Glu1440Asp NC_000016.10:88431789:G:C p.(Glu1440Asp) NC_000016.10:88431789:G:C p.(Glu1440Asp) NC_000016.10:88431789:G:C Identity +NM_004482.4:c.844T>C NP_004473.2:p.Cys282Arg NC_000002.12:165759564:A:G p.(Cys282Arg) NC_000002.12:165759564:A:G p.(Cys282Arg) NC_000002.12:165759564:A:G Identity +NM_000109.4:c.5726G>T NP_000100.3:p.Arg1909Leu NC_000023.11:32342271:C:A p.(Arg1909Leu) NC_000023.11:32342271:C:A p.(Arg1909Leu) NC_000023.11:32342271:C:A Identity +NM_001363734.1:c.4293G>A NP_001350663.1:p.Met1431Ile NC_000020.11:32437187:G:A p.(Met1431Ile) NC_000020.11:32437187:G:A p.(Met1431Ile) NC_000020.11:32437187:G:A Identity +NM_001377289.1:c.833C>A NP_001364218.1:p.Ala278Asp NC_000006.12:70255198:G:T p.(Ala278Asp) NC_000006.12:70255198:G:T p.(Ala278Asp) NC_000006.12:70255198:G:T Identity +NM_001164617.2:c.715G>A NP_001158089.1:p.Val239Met NC_000023.11:133753798:C:T p.(Val239Met) NC_000023.11:133753798:C:T p.(Val239Met) NC_000023.11:133753798:C:T Identity +NM_001382394.1:c.1405G>T NP_001369323.1:p.Gly469Trp NC_000002.12:39023001:C:A p.(Gly469Trp) NC_000002.12:39023001:C:A p.(Gly469Trp) NC_000002.12:39023001:C:A Identity +NM_001130438.3:c.6376A>G NP_001123910.1:p.Asn2126Asp NC_000009.12:128626486:A:G p.(Asn2126Asp) NC_000009.12:128626486:A:G p.(Asn2126Asp) NC_000009.12:128626486:A:G Identity +NM_024649.5:c.614C>T NP_078925.3:p.Thr205Ile NC_000011.10:66519638:C:T p.(Thr205Ile) NC_000011.10:66519638:C:T p.(Thr205Ile) NC_000011.10:66519638:C:T Identity +NM_000142.5:c.227A>G NP_000133.1:p.Lys76Arg NC_000004.12:1799370:A:G p.(Lys76Arg) NC_000004.12:1799370:A:G p.(Lys76Arg) NC_000004.12:1799370:A:G Identity +NM_003482.4:c.7576G>A NP_003473.3:p.Ala2526Thr NC_000012.12:49040193:C:T p.(Ala2526Thr) NC_000012.12:49040193:C:T p.(Ala2526Thr) NC_000012.12:49040193:C:T Identity +NM_001136024.4:c.2231G>A NP_001129496.1:p.Gly744Asp NC_000023.11:17726867:G:A p.(Gly744Asp) NC_000023.11:17726867:G:A p.(Gly744Asp) NC_000023.11:17726867:G:A Identity +NM_001190458.2:c.5812G>C NP_001177387.1:p.Asp1938His NC_000009.12:463559:G:C p.(Asp1938His) NC_000009.12:463559:G:C p.(Asp1938His) NC_000009.12:463559:G:C Identity +NM_172364.5:c.665A>G NP_758952.4:p.Asn222Ser NC_000012.12:1907555:T:C p.(Asn222Ser) NC_000012.12:1907555:T:C p.(Asn222Ser) NC_000012.12:1907555:T:C Identity +NM_001135597.2:c.197A>C NP_001129069.1:p.Lys66Thr NC_000002.12:55388853:T:G p.(Lys66Thr) NC_000002.12:55388853:T:G p.(Lys66Thr) NC_000002.12:55388853:T:G Identity +NM_001406559.1:c.1219G>A NP_001393488.1:p.Gly407Ser NC_000010.11:86919446:G:A p.(Gly407Ser) NC_000010.11:86919446:G:A p.(Gly407Ser) NC_000010.11:86919446:G:A Identity +NM_001128844.3:c.3151A>T NP_001122316.1:p.Met1051Leu NC_000019.10:11025490:A:T p.(Met1051Leu) NC_000019.10:11025490:A:T p.(Met1051Leu) NC_000019.10:11025490:A:T Identity +NM_000368.5:c.2474_2478del NP_000359.1:p.Glu825fs NC_000009.12:132901612:CAGCTCAG:CAG p.(Glu825AlafsTer13) NC_000009.12:132901612:CAGCTCAG:CAG p.(Glu825AlafsTer13) NC_000009.12:132901612:CAGCT: Analogous +NM_000268.4:c.1735A>G NP_000259.1:p.Lys579Glu NC_000022.11:29681598:A:G p.(Lys579Glu) NC_000022.11:29681598:A:G p.(Lys579Glu) NC_000022.11:29681598:A:G Identity +NM_001135659.3:c.1609A>T NP_001129131.1:p.Asn537Tyr NC_000002.12:50552856:T:A p.(Asn537Tyr) NC_000002.12:50552856:T:A p.(Asn537Tyr) NC_000002.12:50552856:T:A Identity +NM_005732.4:c.1316T>G NP_005723.2:p.Leu439Arg NC_000005.10:132589700:T:G p.(Leu439Arg) NC_000005.10:132589700:T:G p.(Leu439Arg) NC_000005.10:132589700:T:G Identity +NM_001848.3:c.1721G>C NP_001839.2:p.Arg574Pro NC_000021.9:45999198:G:C p.(Arg574Pro) NC_000021.9:45999198:G:C p.(Arg574Pro) NC_000021.9:45999198:G:C Identity +NM_001145252.3:c.1301G>A NP_001138724.1:p.Arg434Lys NC_000023.11:47624383:C:T p.(Arg434Lys) NC_000023.11:47624383:C:T p.(Arg434Lys) NC_000023.11:47624383:C:T Identity +NM_001256267.2:c.3859C>G NP_001243196.1:p.Leu1287Val NC_000010.11:68210350:C:G p.(Leu1287Val) NC_000010.11:68210350:C:G p.(Leu1287Val) NC_000010.11:68210350:C:G Identity +NM_181426.2:c.139_142del NP_852091.1:p.Glu47fs NC_000003.12:180663934:ACTCAC:AC p.(Glu47MetfsTer8) NC_000003.12:180663934:ACTCAC:AC p.(Glu47MetfsTer8) NC_000003.12:180663934:ACTC: Analogous +NM_000063.6:c.970G>T NP_000054.2:p.Glu324Ter NC_000006.12:31936042:G:T p.(Glu324Ter) NC_000006.12:31936042:G:T p.(Glu324Ter) NC_000006.12:31936042:G:T Identity +NM_001160708.2:c.323G>A NP_001154180.1:p.Gly108Asp NC_000012.12:106378266:G:A p.(Gly108Asp) NC_000012.12:106378266:G:A p.(Gly108Asp) NC_000012.12:106378266:G:A Identity +NM_000548.5:c.3320A>G NP_000539.2:p.Glu1107Gly NC_000016.10:2079591:A:G p.(Glu1107Gly) NC_000016.10:2079591:A:G p.(Glu1107Gly) NC_000016.10:2079591:A:G Identity +NM_001195263.2:c.2246A>C NP_001182192.1:p.Asn749Thr NC_000010.11:101010642:T:G p.(Asn749Thr) NC_000010.11:101010642:T:G p.(Asn749Thr) NC_000010.11:101010642:T:G Identity +NM_001142805.2:c.91C>A NP_001136277.1:p.Pro31Thr NC_000023.11:153688664:C:A p.(Pro31Thr) NC_000023.11:153688664:C:A p.(Pro31Thr) NC_000023.11:153688664:C:A Identity +NM_002470.4:c.5212C>G NP_002461.2:p.Leu1738Val NC_000017.11:10631684:G:C p.(Leu1738Val) NC_000017.11:10631684:G:C p.(Leu1738Val) NC_000017.11:10631684:G:C Identity +NM_000465.4:c.101G>T NP_000456.2:p.Trp34Leu NC_000002.12:214809468:C:A p.(Trp34Leu) NC_000002.12:214809468:C:A p.(Trp34Leu) NC_000002.12:214809468:C:A Identity +NM_001413036.1:c.16G>T NP_001399965.1:p.Asp6Tyr NC_000008.11:144517768:C:A p.(Asp6Tyr) NC_000008.11:144517768:C:A p.(Asp6Tyr) NC_000008.11:144517768:C:A Identity +NM_024529.5:c.1236dup NP_078805.3:p.Gln413fs NC_000001.11:193233073:G:GG p.(Gln413AlafsTer8) NC_000001.11:193233073:G:GG p.(Gln413AlafsTer8) ERR:SPDI Analogous +NM_001302959.2:c.781G>T NP_001289888.1:p.Asp261Tyr NC_000011.10:67490957:G:T p.(Asp261Tyr) NC_000011.10:67490957:G:T p.(Asp261Tyr) NC_000011.10:67490957:G:T Identity +NM_001130442.3:c.516C>A NP_001123914.1:p.Asn172Lys NC_000011.10:532689:G:T p.(Asn172Lys) NC_000011.10:532689:G:T p.(Asn172Lys) NC_000011.10:532689:G:T Identity +NM_001112808.3:c.992C>T NP_001106279.3:p.Ala331Val NC_000001.11:74342847:C:T p.(Ala331Val) NC_000001.11:74342847:C:T p.(Ala331Val) NC_000001.11:74342847:C:T Identity +NM_000921.5:c.1792G>A NP_000912.3:p.Ala598Thr NC_000012.12:20633723:G:A p.(Ala598Thr) NC_000012.12:20633723:G:A p.(Ala598Thr) NC_000012.12:20633723:G:A Identity +NM_004821.3:c.72C>G NP_004812.1:p.His24Gln NC_000005.10:154477936:G:C p.(His24Gln) NC_000005.10:154477936:G:C p.(His24Gln) NC_000005.10:154477936:G:C Identity +NM_000142.5:c.1313T>C NP_000133.1:p.Val438Ala NC_000004.12:1804869:T:C p.(Val438Ala) NC_000004.12:1804869:T:C p.(Val438Ala) NC_000004.12:1804869:T:C Identity +NM_002238.4:c.2813A>G NP_002229.1:p.Gln938Arg NC_000001.11:210683356:T:C p.(Gln938Arg) NC_000001.11:210683356:T:C p.(Gln938Arg) NC_000001.11:210683356:T:C Identity +NM_017617.5:c.299C>T NP_060087.3:p.Thr100Ile NC_000009.12:136523820:G:A p.(Thr100Ile) NC_000009.12:136523820:G:A p.(Thr100Ile) NC_000009.12:136523820:G:A Identity +NM_052836.4:c.1468G>A NP_443068.1:p.Ala490Thr NC_000010.11:71646635:G:A p.(Ala490Thr) NC_000010.11:71646635:G:A p.(Ala490Thr) NC_000010.11:71646635:G:A Identity +NM_001605.3:c.61A>G NP_001596.2:p.Asn21Asp NC_000016.10:70282702:T:C p.(Asn21Asp) NC_000016.10:70282702:T:C p.(Asn21Asp) NC_000016.10:70282702:T:C Identity +NM_000535.7:c.308del NP_000526.2:p.Thr103fs NC_000007.14:6003734:G: p.(Thr103IlefsTer9) NC_000007.14:6003734:G: p.(Thr103IlefsTer9) NC_000007.14:6003734:G: Analogous +NM_001378120.1:c.4931A>T NP_001365049.1:p.Asn1644Ile NC_000002.12:148490562:A:T p.(Asn1644Ile) NC_000002.12:148490562:A:T p.(Asn1644Ile) NC_000002.12:148490562:A:T Identity +NM_001363656.2:c.1036G>C NP_001350585.1:p.Val346Leu NC_000019.10:52222152:G:C p.(Val346Leu) NC_000019.10:52222152:G:C p.(Val346Leu) NC_000019.10:52222152:G:C Identity +NM_001346897.2:c.2743A>C NP_001333826.1:p.Lys915Gln NC_000007.14:55200344:A:C p.(Lys915Gln) NC_000007.14:55200344:A:C p.(Lys915Gln) NC_000007.14:55200344:A:C Identity +NM_000286.3:c.611_612del NP_000277.1:p.Thr204fs NC_000017.11:35577105:TGT:T p.(Thr204SerfsTer13) NC_000017.11:35577105:TGT:T p.(Thr204SerfsTer13) NC_000017.11:35577105:TG: Analogous +NM_001160036.2:c.67A>G NP_001153508.1:p.Met23Val NC_000008.11:23004434:A:G p.(Met23Val) NC_000008.11:23004434:A:G p.(Met23Val) NC_000008.11:23004434:A:G Identity +NM_001194998.2:c.1458del NP_001181927.1:p.Ala487fs NC_000015.10:48781314:A: p.(Ala487LeufsTer4) NC_000015.10:48781314:A: p.(Ala487LeufsTer4) NC_000015.10:48781314:A: Analogous +NM_000406.3:c.351_352del NP_000397.1:p.Ser118fs NC_000004.12:67753983:TG: p.(Ser118LeufsTer50) NC_000004.12:67753983:TG: p.(Ser118LeufsTer50) NC_000004.12:67753983:TG: Analogous +NM_012079.6:c.302C>G NP_036211.2:p.Ala101Gly NC_000008.11:144319054:G:C p.(Ala101Gly) NC_000008.11:144319054:G:C p.(Ala101Gly) NC_000008.11:144319054:G:C Identity +NM_001168249.1:c.4196A>G NP_001161721.1:p.Lys1399Arg NC_000001.11:102888732:T:C ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_006231.4:c.630G>T NP_006222.2:p.Lys210Asn NC_000012.12:132677667:C:A p.(Lys210Asn) NC_000012.12:132677667:C:A p.(Lys210Asn) NC_000012.12:132677667:C:A Identity +NM_001166588.3:c.1216del NP_001160060.1:p.Cys406fs NC_000001.11:44874663:A: p.(Cys406ValfsTer4) NC_000001.11:44874663:A: p.(Cys406ValfsTer4) NC_000001.11:44874663:A: Analogous +NM_001306079.2:c.3604C>T NP_001293008.1:p.Gln1202Ter NC_000002.12:27235250:C:T p.(Gln1202Ter) NC_000002.12:27235250:C:T p.(Gln1202Ter) NC_000002.12:27235250:C:T Identity +NM_001077186.2:c.3667A>G NP_001070654.1:p.Arg1223Gly NC_000019.10:50276841:A:G p.(Arg1223Gly) NC_000019.10:50276841:A:G p.(Arg1223Gly) NC_000019.10:50276841:A:G Identity +NM_014014.5:c.601G>A NP_054733.2:p.Val201Met NC_000002.12:96301026:C:T p.(Val201Met) NC_000002.12:96301026:C:T p.(Val201Met) NC_000002.12:96301026:C:T Identity +NM_019074.4:c.628C>A NP_061947.1:p.Pro210Thr NC_000015.10:40931735:C:A p.(Pro210Thr) NC_000015.10:40931735:C:A p.(Pro210Thr) NC_000015.10:40931735:C:A Identity +NM_000152.5:c.1560del NP_000143.2:p.Asn520fs NC_000017.11:80110948:C: p.(Asn520LysfsTer58) NC_000017.11:80110948:C: p.(Asn520LysfsTer58) NC_000017.11:80110948:C: Analogous +NM_000400.4:c.1418dup NP_000391.1:p.His474fs NC_000019.10:45357330:AA:AAA p.(His474ProfsTer27) NC_000019.10:45357330:AA:AAA p.(His474ProfsTer27) ERR:SPDI Analogous +NM_001135659.3:c.499C>G NP_001129131.1:p.Leu167Val NC_000002.12:51027774:G:C p.(Leu167Val) NC_000002.12:51027774:G:C p.(Leu167Val) NC_000002.12:51027774:G:C Identity +NM_000828.5:c.2021A>G NP_000819.4:p.Gln674Arg NC_000023.11:123428083:A:G p.(Gln674Arg) NC_000023.11:123428083:A:G p.(Gln674Arg) NC_000023.11:123428083:A:G Identity +NM_001382394.1:c.1521T>A NP_001369323.1:p.Phe507Leu NC_000002.12:39022885:A:T p.(Phe507Leu) NC_000002.12:39022885:A:T p.(Phe507Leu) NC_000002.12:39022885:A:T Identity +NM_001110792.2:c.308G>C NP_001104262.1:p.Arg103Pro NC_000023.11:154032311:C:G p.(Arg103Pro) NC_000023.11:154032311:C:G p.(Arg103Pro) NC_000023.11:154032311:C:G Identity +NM_000062.3:c.382dup NP_000053.2:p.Thr128fs NC_000011.10:57600208:A:AA p.(Thr128AsnfsTer5) NC_000011.10:57600208:A:AA p.(Thr128AsnfsTer5) ERR:SPDI Analogous +NM_000302.4:c.475G>C NP_000293.2:p.Gly159Arg NC_000001.11:11952630:G:C p.(Gly159Arg) NC_000001.11:11952630:G:C p.(Gly159Arg) NC_000001.11:11952630:G:C Identity +NM_001393363.1:c.427C>T NP_001380292.1:p.Gln143Ter NC_000003.12:33114503:C:T p.(Gln143Ter) NC_000003.12:33114503:C:T p.(Gln143Ter) NC_000003.12:33114503:C:T Identity +NM_000211.5:c.433_436del NP_000202.3:p.Asn145fs NC_000021.9:44903427:CATTC:C p.(Asn145SerfsTer4) NC_000021.9:44903427:CATTC:C p.(Asn145SerfsTer4) NC_000021.9:44903427:CATT: Analogous +NM_052874.5:c.540C>G NP_443106.1:p.Ile180Met NC_000016.10:30993481:G:C p.(Ile180Met) NC_000016.10:30993481:G:C p.(Ile180Met) NC_000016.10:30993481:G:C Identity +NM_001376.5:c.13817C>T NP_001367.2:p.Thr4606Ile NC_000014.9:102050438:C:T p.(Thr4606Ile) NC_000014.9:102050438:C:T p.(Thr4606Ile) NC_000014.9:102050438:C:T Identity +NM_001211.6:c.1682T>C NP_001202.5:p.Leu561Pro NC_000015.10:40202641:T:C p.(Leu561Pro) NC_000015.10:40202641:T:C p.(Leu561Pro) NC_000015.10:40202641:T:C Identity +NM_000272.5:c.1011dup NP_000263.2:p.Gln338fs NC_000002.12:110163063:T:TT p.(Gln338ThrfsTer39) NC_000002.12:110163063:T:TT p.(Gln338ThrfsTer39) ERR:SPDI Analogous +NM_001164507.2:c.13761del NP_001157979.2:p.Arg4588fs NC_000002.12:151600468:GG:G p.(Arg4588GlyfsTer32) NC_000002.12:151600468:GG:G p.(Arg4588GlyfsTer32) NC_000002.12:151600468:G: Analogous +NM_001081676.2:c.3031G>A NP_001075145.1:p.Glu1011Lys NC_000002.12:165127845:C:T p.(Glu1011Lys) NC_000002.12:165127845:C:T p.(Glu1011Lys) NC_000002.12:165127845:C:T Identity +NM_001167681.3:c.735C>A NP_001161153.1:p.Ser245Arg NC_000011.10:128810462:C:A p.(Ser245Arg) NC_000011.10:128810462:C:A p.(Ser245Arg) NC_000011.10:128810462:C:A Identity +NM_001130066.2:c.3633del NP_001123538.1:p.Glu1212fs NC_000006.12:33446671:AA:A p.(Glu1212AsnfsTer7) NC_000006.12:33446671:AA:A p.(Glu1212AsnfsTer7) NC_000006.12:33446672:A: Analogous +NM_014014.5:c.2365A>G NP_054733.2:p.Met789Val NC_000002.12:96291447:T:C p.(Met789Val) NC_000002.12:96291447:T:C p.(Met789Val) NC_000002.12:96291447:T:C Identity +NM_001077653.2:c.702T>G NP_001071121.1:p.Ile234Met NC_000007.14:35240989:A:C p.(Ile234Met) NC_000007.14:35240989:A:C p.(Ile234Met) NC_000007.14:35240989:A:C Identity +NM_002485.5:c.40G>C NP_002476.2:p.Glu14Gln NC_000008.11:89982852:C:G p.(Glu14Gln) NC_000008.11:89982852:C:G p.(Glu14Gln) NC_000008.11:89982852:C:G Identity +NM_000179.3:c.86G>A NP_000170.1:p.Arg29His NC_000002.12:47783318:G:A p.(Arg29His) NC_000002.12:47783318:G:A p.(Arg29His) NC_000002.12:47783318:G:A Identity +NM_001321135.2:c.797A>C NP_001308064.1:p.Asp266Ala NC_000015.10:77032352:A:C p.(Asp266Ala) NC_000015.10:77032352:A:C p.(Asp266Ala) NC_000015.10:77032352:A:C Identity +NM_006231.4:c.2708A>G NP_006222.2:p.Glu903Gly NC_000012.12:132661682:T:C p.(Glu903Gly) NC_000012.12:132661682:T:C p.(Glu903Gly) NC_000012.12:132661682:T:C Identity +NM_016653.3:c.736G>A NP_057737.2:p.Asp246Asn NC_000002.12:173203861:G:A p.(Asp246Asn) NC_000002.12:173203861:G:A p.(Asp246Asn) NC_000002.12:173203861:G:A Identity +NM_001204402.2:c.88_90del NP_001191331.1:p.Asp30del NC_000023.11:107645345:GAC: p.(Asp30del) NC_000023.11:107645345:GAC: p.(Asp30del) NC_000023.11:107645345:GAC: Identity +NM_001190241.2:c.1683G>A NP_001177170.1:p.Trp561Ter NC_000003.12:160277310:C:T p.(Trp561Ter) NC_000003.12:160277310:C:T p.(Trp561Ter) NC_000003.12:160277310:C:T Identity +NM_000553.6:c.355G>T NP_000544.2:p.Val119Phe NC_000008.11:31064433:G:T p.(Val119Phe) NC_000008.11:31064433:G:T p.(Val119Phe) NC_000008.11:31064433:G:T Identity +NM_001024688.3:c.1851_1852insA NP_001019859.1:p.Pro618fs NC_000008.11:89943339::T p.(Pro618ThrfsTer42) NC_000008.11:89943338:G:T p.(Pro618ThrfsTer42) NC_000008.11:89943339:GA:T Analogous +NM_001291415.2:c.610A>G NP_001278344.1:p.Asn204Asp NC_000023.11:45034975:A:G p.(Asn204Asp) NC_000023.11:45034975:A:G p.(Asn204Asp) NC_000023.11:45034975:A:G Identity +NM_020461.4:c.4306G>T NP_065194.3:p.Glu1436Ter NC_000022.11:50219652:C:A p.(Glu1436Ter) NC_000022.11:50219652:C:A p.(Glu1436Ter) NC_000022.11:50219652:C:A Identity +NM_001006600.3:c.961C>T NP_001006600.1:p.Leu321Phe NC_000005.10:66025917:C:T p.(Leu321Phe) NC_000005.10:66025917:C:T p.(Leu321Phe) NC_000005.10:66025917:C:T Identity +NM_001291902.2:c.1153A>C NP_001278831.1:p.Ser385Arg NC_000011.10:68416395:A:C p.(Ser385Arg) NC_000011.10:68416395:A:C p.(Ser385Arg) NC_000011.10:68416395:A:C Identity +NM_001353765.2:c.879A>G NP_001340694.1:p.Ile293Met NC_000002.12:29196850:T:C p.(Ile293Met) NC_000002.12:29196850:T:C p.(Ile293Met) NC_000002.12:29196850:T:C Identity +NM_139057.4:c.1920del NP_620688.2:p.Lys642fs NC_000015.10:100109084:G: p.(Lys642ArgfsTer61) NC_000015.10:100109084:G: p.(Lys642ArgfsTer61) NC_000015.10:100109084:G: Analogous +NM_031407.7:c.10618G>C NP_113584.3:p.Ala3540Pro NC_000023.11:53547690:C:G p.(Ala3540Pro) NC_000023.11:53547690:C:G p.(Ala3540Pro) NC_000023.11:53547690:C:G Identity +NM_001379141.1:c.3338A>G NP_001366070.1:p.His1113Arg NC_000018.10:44952677:A:G p.(His1113Arg) NC_000018.10:44952677:A:G p.(His1113Arg) NC_000018.10:44952677:A:G Identity +NM_001042749.2:c.3244C>T NP_001036214.1:p.Arg1082Trp NC_000023.11:124086736:C:T p.(Arg1082Trp) NC_000023.11:124086736:C:T p.(Arg1082Trp) NC_000023.11:124086736:C:T Identity +NM_032119.4:c.4308C>G NP_115495.3:p.Ile1436Met NC_000005.10:90653881:C:G p.(Ile1436Met) NC_000005.10:90653881:C:G p.(Ile1436Met) NC_000005.10:90653881:C:G Identity +NM_001164507.2:c.22148A>C NP_001157979.2:p.Lys7383Thr NC_000002.12:151525970:T:G p.(Lys7383Thr) NC_000002.12:151525970:T:G p.(Lys7383Thr) NC_000002.12:151525970:T:G Identity +NM_001195573.1:c.2600T>G NP_001182502.1:p.Phe867Cys NC_000014.9:95107929:A:C p.(Phe867Cys) NC_000014.9:95107929:A:C p.(Phe867Cys) NC_000014.9:95107929:A:C Identity +NM_001605.3:c.1875A>T NP_001596.2:p.Lys625Asn NC_000016.10:70259096:T:A p.(Lys625Asn) NC_000016.10:70259096:T:A p.(Lys625Asn) NC_000016.10:70259096:T:A Identity +NM_001037.5:c.109A>C NP_001028.1:p.Lys37Gln NC_000019.10:35032595:A:C p.(Lys37Gln) NC_000019.10:35032595:A:C p.(Lys37Gln) NC_000019.10:35032595:A:C Identity +NM_005732.4:c.2453G>T NP_005723.2:p.Gly818Val NC_000005.10:132603974:G:T p.(Gly818Val) NC_000005.10:132603974:G:T p.(Gly818Val) NC_000005.10:132603974:G:T Identity +NM_199242.3:c.1763G>A NP_954712.1:p.Trp588Ter NC_000017.11:75835493:C:T p.(Trp588Ter) NC_000017.11:75835493:C:T p.(Trp588Ter) NC_000017.11:75835493:C:T Identity +NM_025152.3:c.163C>T NP_079428.2:p.Arg55Ter NC_000014.9:31562121:C:T p.(Arg55Ter) NC_000014.9:31562121:C:T p.(Arg55Ter) NC_000014.9:31562121:C:T Identity +NM_001345950.1:c.346C>T NP_001332879.1:p.Gln116Ter NC_000010.11:102644962:C:T p.(Gln116Ter) NC_000010.11:102644962:C:T p.(Gln116Ter) NC_000010.11:102644962:C:T Identity +NM_000143.4:c.1318G>A NP_000134.2:p.Ala440Thr NC_000001.11:241500508:C:T p.(Ala440Thr) NC_000001.11:241500508:C:T p.(Ala440Thr) NC_000001.11:241500508:C:T Identity +NM_003742.4:c.3272del NP_003733.2:p.Pro1091fs NC_000002.12:168930803:GG:G p.(Pro1091LeufsTer6) NC_000002.12:168930803:GG:G p.(Pro1091LeufsTer6) NC_000002.12:168930803:G: Analogous +NM_006015.6:c.6008A>C NP_006006.3:p.Lys2003Thr NC_000001.11:26779905:A:C p.(Lys2003Thr) NC_000001.11:26779905:A:C p.(Lys2003Thr) NC_000001.11:26779905:A:C Identity +NM_001349715.2:c.156G>T NP_001336644.1:p.Gly52= NC_000001.11:29230750:C:A p.(Gly52=) NC_000001.11:29230750:C:A p.(Gly52=) NC_000001.11:29230750:C:A Identity +NM_004304.5:c.1626del NP_004295.2:p.Ile543fs NC_000002.12:29318324:C: p.(Ile543SerfsTer18) NC_000002.12:29318324:C: p.(Ile543SerfsTer18) NC_000002.12:29318324:C: Analogous +NM_001195573.1:c.4567T>C NP_001182502.1:p.Phe1523Leu NC_000014.9:95096352:A:G p.(Phe1523Leu) NC_000014.9:95096352:A:G p.(Phe1523Leu) NC_000014.9:95096352:A:G Identity +NM_001127208.3:c.1162A>G NP_001120680.1:p.Thr388Ala NC_000004.12:105235103:A:G p.(Thr388Ala) NC_000004.12:105235103:A:G p.(Thr388Ala) NC_000004.12:105235103:A:G Identity +NM_001424108.1:c.2701G>A NP_001411037.1:p.Gly901Arg NC_000006.12:33172546:C:T p.(Gly901Arg) NC_000006.12:33172546:C:T p.(Gly901Arg) NC_000006.12:33172546:C:T Identity +NM_001034833.2:c.120_122del NP_001030005.1:p.Arg42del NC_000005.10:178153695:CGA: p.(Arg42del) NC_000005.10:178153695:CGA: p.(Arg42del) NC_000005.10:178153695:CGA: Identity +NM_080473.5:c.1153dup NP_536721.1:p.Ala385fs NC_000020.11:62464876:CCCCCC:CCCCCCC p.(Ala385GlyfsTer32) NC_000020.11:62464876:CCCCCC:CCCCCCC p.(Ala385GlyfsTer32) ERR:SPDI Analogous +NM_001033053.3:c.1022C>T NP_001028225.1:p.Ser341Leu NC_000017.11:5559673:G:A p.(Ser341Leu) NC_000017.11:5559673:G:A p.(Ser341Leu) NC_000017.11:5559673:G:A Identity +NM_021999.5:c.550C>T NP_068839.1:p.Leu184Phe NC_000013.11:48258221:C:T p.(Leu184Phe) NC_000013.11:48258221:C:T p.(Leu184Phe) NC_000013.11:48258221:C:T Identity +NM_001286613.2:c.1192C>T NP_001273542.1:p.Gln398Ter NC_000006.12:109450355:G:A p.(Gln398Ter) NC_000006.12:109450355:G:A p.(Gln398Ter) NC_000006.12:109450355:G:A Identity +NM_001172509.2:c.143A>C NP_001165980.1:p.Asn48Thr NC_000002.12:199455894:T:G p.(Asn48Thr) NC_000002.12:199455894:T:G p.(Asn48Thr) NC_000002.12:199455894:T:G Identity +NM_003235.5:c.2475T>A NP_003226.4:p.Tyr825Ter NC_000008.11:132888281:T:A p.(Tyr825Ter) NC_000008.11:132888281:T:A p.(Tyr825Ter) NC_000008.11:132888281:T:A Identity +NM_001080449.3:c.1819C>T NP_001073918.2:p.Leu607Phe NC_000010.11:68432259:G:A p.(Leu607Phe) NC_000010.11:68432259:G:A p.(Leu607Phe) NC_000010.11:68432259:G:A Identity +NM_000074.3:c.589T>G NP_000065.1:p.Ser197Ala NC_000023.11:136659217:T:G p.(Ser197Ala) NC_000023.11:136659217:T:G p.(Ser197Ala) NC_000023.11:136659217:T:G Identity +NM_001037131.3:c.2372A>G NP_001032208.1:p.Tyr791Cys NC_000002.12:236123919:A:G p.(Tyr791Cys) NC_000002.12:236123919:A:G p.(Tyr791Cys) NC_000002.12:236123919:A:G Identity +NM_002470.4:c.836A>C NP_002461.2:p.Lys279Thr NC_000017.11:10647243:T:G p.(Lys279Thr) NC_000017.11:10647243:T:G p.(Lys279Thr) NC_000017.11:10647243:T:G Identity +NM_000520.6:c.107dup NP_000511.2:p.Tyr37fs NC_000015.10:72375865:C:CC p.(Tyr37LeufsTer34) NC_000015.10:72375865:C:CC p.(Tyr37LeufsTer34) ERR:SPDI Analogous +NM_000548.5:c.862G>T NP_000539.2:p.Asp288Tyr NC_000016.10:2058759:G:T p.(Asp288Tyr) NC_000016.10:2058759:G:T p.(Asp288Tyr) NC_000016.10:2058759:G:T Identity +NM_000489.6:c.938C>G NP_000480.3:p.Ser313Cys NC_000023.11:77684317:G:C p.(Ser313Cys) NC_000023.11:77684317:G:C p.(Ser313Cys) NC_000023.11:77684317:G:C Identity +NM_001301076.3:c.257G>A NP_001288005.1:p.Cys86Tyr NC_000019.10:46839522:C:T p.(Cys86Tyr) NC_000019.10:46839522:C:T p.(Cys86Tyr) NC_000019.10:46839522:C:T Identity +NM_001282948.2:c.2103G>T NP_001269877.1:p.Trp701Cys NC_000010.11:63213517:C:A p.(Trp701Cys) NC_000010.11:63213517:C:A p.(Trp701Cys) NC_000010.11:63213517:C:A Identity +NM_000199.5:c.703G>C NP_000190.1:p.Asp235His NC_000017.11:80213845:C:G p.(Asp235His) NC_000017.11:80213845:C:G p.(Asp235His) NC_000017.11:80213845:C:G Identity +NM_001098511.3:c.562G>T NP_001091981.1:p.Val188Phe NC_000005.10:62355161:G:T p.(Val188Phe) NC_000005.10:62355161:G:T p.(Val188Phe) NC_000005.10:62355161:G:T Identity +NM_001168378.1:c.881G>T NP_001161850.1:p.Arg294Leu NC_000003.12:147391203:C:A p.(Arg294Leu) NC_000003.12:147391203:C:A p.(Arg294Leu) NC_000003.12:147391203:C:A Identity +NM_000212.3:c.1240G>C NP_000203.2:p.Gly414Arg NC_000017.11:47291067:G:C p.(Gly414Arg) NC_000017.11:47291067:G:C p.(Gly414Arg) NC_000017.11:47291067:G:C Identity +NM_001190879.3:c.919C>T NP_001177808.1:p.Gln307Ter NC_000002.12:147939178:G:A p.(Gln307Ter) NC_000002.12:147939178:G:A p.(Gln307Ter) NC_000002.12:147939178:G:A Identity +NM_005732.4:c.3709C>T NP_005723.2:p.Leu1237Phe NC_000005.10:132640761:C:T p.(Leu1237Phe) NC_000005.10:132640761:C:T p.(Leu1237Phe) NC_000005.10:132640761:C:T Identity +NM_001280541.2:c.958C>T NP_001267470.1:p.Gln320Ter NC_000003.12:129476479:C:T p.(Gln320Ter) NC_000003.12:129476479:C:T p.(Gln320Ter) NC_000003.12:129476479:C:T Identity +NM_001256468.2:c.2806G>C NP_001243397.1:p.Val936Leu NC_000010.11:75022213:G:C p.(Val936Leu) NC_000010.11:75022213:G:C p.(Val936Leu) NC_000010.11:75022213:G:C Identity +NM_031935.3:c.1394G>A NP_114141.2:p.Arg465Lys NC_000001.11:185925154:G:A p.(Arg465Lys) NC_000001.11:185925154:G:A p.(Arg465Lys) NC_000001.11:185925154:G:A Identity +NM_001005336.3:c.2057T>C NP_001005336.1:p.Met686Thr NC_000009.12:128248733:T:C p.(Met686Thr) NC_000009.12:128248733:T:C p.(Met686Thr) NC_000009.12:128248733:T:C Identity +NM_001290307.3:c.1116dup NP_001277236.1:p.Lys373fs NC_000005.10:138886263:CC:CCC p.(Lys373GlnfsTer8) NC_000005.10:138886263:CC:CCC p.(Lys373GlnfsTer8) ERR:SPDI Analogous +NM_001164674.2:c.412_413del NP_001158146.1:p.Lys138fs NC_000003.12:4452906:TT: p.(Lys138ValfsTer24) NC_000003.12:4452906:TT: p.(Lys138ValfsTer24) NC_000003.12:4452906:TT: Analogous +NM_003737.4:c.5000C>T NP_003728.1:p.Ser1667Phe NC_000011.10:6629706:G:A p.(Ser1667Phe) NC_000011.10:6629706:G:A p.(Ser1667Phe) NC_000011.10:6629706:G:A Identity +NM_001085049.3:c.121_124del NP_001078518.1:p.Asp41fs NC_000003.12:138373001:CTGACT:CT p.(Asp41MetfsTer10) NC_000003.12:138373001:CTGACT:CT p.(Asp41MetfsTer10) NC_000003.12:138373003:GACT: Analogous +NM_001316772.1:c.1781A>G NP_001303701.1:p.Asp594Gly NC_000007.14:30632285:A:G p.(Asp594Gly) NC_000007.14:30632285:A:G p.(Asp594Gly) NC_000007.14:30632285:A:G Identity +NM_000836.4:c.1595G>C NP_000827.2:p.Arg532Pro NC_000019.10:48416014:G:C p.(Arg532Pro) NC_000019.10:48416014:G:C p.(Arg532Pro) NC_000019.10:48416014:G:C Identity +NM_000553.6:c.3763C>G NP_000544.2:p.Leu1255Val NC_000008.11:31154698:C:G p.(Leu1255Val) NC_000008.11:31154698:C:G p.(Leu1255Val) NC_000008.11:31154698:C:G Identity +NM_001282237.2:c.221A>C NP_001269166.1:p.Glu74Ala NC_000014.9:99257673:T:G p.(Glu74Ala) NC_000014.9:99257673:T:G p.(Glu74Ala) NC_000014.9:99257673:T:G Identity +NM_001321193.3:c.533A>G NP_001308122.1:p.Asn178Ser NC_000003.12:177050504:T:C p.(Asn178Ser) NC_000003.12:177050504:T:C p.(Asn178Ser) NC_000003.12:177050504:T:C Identity +NM_001257281.2:c.990G>T NP_001244210.1:p.Glu330Asp NC_000002.12:232163497:G:T p.(Glu330Asp) NC_000002.12:232163497:G:T p.(Glu330Asp) NC_000002.12:232163497:G:T Identity +NM_001001977.1:c.57T>G NP_001001977.1:p.Cys19Trp NC_000020.11:59030404:A:C ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found ERR:AlignmentMapper(tx_ac=NM_001001977.1, alt_ac=NM_001001977.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001977.1, alt_ac=NM_001001977.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001977.1 not found +NM_000245.4:c.368A>T NP_000236.2:p.Asp123Val NC_000007.14:116699451:A:T p.(Asp123Val) NC_000007.14:116699451:A:T p.(Asp123Val) NC_000007.14:116699451:A:T Identity +NM_000059.4:c.9289T>C NP_000050.3:p.Cys3097Arg NC_000013.11:32394720:T:C p.(Cys3097Arg) NC_000013.11:32394720:T:C p.(Cys3097Arg) NC_000013.11:32394720:T:C Identity +NM_015506.3:c.36del NP_056321.2:p.Ile12fs NC_000001.11:45500367:C: p.(Ile12MetfsTer64) NC_000001.11:45500367:C: p.(Ile12MetfsTer64) NC_000001.11:45500367:C: Analogous +NM_001852.4:c.1715C>A NP_001843.1:p.Pro572His NC_000001.11:40302697:G:T p.(Pro572His) NC_000001.11:40302697:G:T p.(Pro572His) NC_000001.11:40302697:G:T Identity +NM_001256959.2:c.391G>A NP_001243888.2:p.Val131Met NC_000001.11:11823709:G:A p.(Val131Met) NC_000001.11:11823709:G:A p.(Val131Met) NC_000001.11:11823709:G:A Identity +NM_001289905.2:c.667C>G NP_001276834.1:p.Leu223Val NC_000022.11:17102206:C:G p.(Leu223Val) NC_000022.11:17102206:C:G p.(Leu223Val) NC_000022.11:17102206:C:G Identity +NM_000426.4:c.8052dup NP_000417.3:p.Trp2685fs NC_000006.12:129492053:A:AA p.(Trp2685MetfsTer6) NC_000006.12:129492053:A:AA p.(Trp2685MetfsTer6) ERR:SPDI Analogous +NM_000222.3:c.1630A>G NP_000213.1:p.Thr544Ala NC_000004.12:54727306:A:G p.(Thr544Ala) NC_000004.12:54727306:A:G p.(Thr544Ala) NC_000004.12:54727306:A:G Identity +NM_206933.4:c.6195del NP_996816.3:p.Lys2065fs NC_000001.11:216046560:TTT:TT p.(Lys2065AsnfsTer21) NC_000001.11:216046560:TTT:TT p.(Lys2065AsnfsTer21) NC_000001.11:216046560:T: Analogous +NM_001126131.2:c.1451G>A NP_001119603.1:p.Trp484Ter NC_000015.10:89327045:C:T p.(Trp484Ter) NC_000015.10:89327045:C:T p.(Trp484Ter) NC_000015.10:89327045:C:T Identity +NM_001024858.4:c.4965C>A NP_001020029.1:p.His1655Gln NC_000014.9:64774404:G:T p.(His1655Gln) NC_000014.9:64774404:G:T p.(His1655Gln) NC_000014.9:64774404:G:T Identity +NM_001291593.2:c.165dup NP_001278522.1:p.Gln56fs NC_000001.11:5905690:T:TT p.(Gln56ThrfsTer46) NC_000001.11:5905690:T:TT p.(Gln56ThrfsTer46) ERR:SPDI Analogous +NM_000227.6:c.2802C>A NP_000218.3:p.Tyr934Ter NC_000018.10:23914844:C:A p.(Tyr934Ter) NC_000018.10:23914844:C:A p.(Tyr934Ter) NC_000018.10:23914844:C:A Identity +NM_001365951.3:c.2753C>T NP_001352880.1:p.Ser918Phe NC_000001.11:10326187:C:T p.(Ser918Phe) NC_000001.11:10326187:C:T p.(Ser918Phe) NC_000001.11:10326187:C:T Identity +NM_001014794.3:c.83A>G NP_001014794.1:p.Asn28Ser NC_000011.10:6604353:A:G p.(Asn28Ser) NC_000011.10:6604353:A:G p.(Asn28Ser) NC_000011.10:6604353:A:G Identity +NM_001276468.2:c.424A>G NP_001263397.1:p.Thr142Ala NC_000012.12:57630274:T:C p.(Thr142Ala) NC_000012.12:57630274:T:C p.(Thr142Ala) NC_000012.12:57630274:T:C Identity +NM_000109.4:c.7467G>C NP_000100.3:p.Arg2489Ser NC_000023.11:31774010:C:G p.(Arg2489Ser) NC_000023.11:31774010:C:G p.(Arg2489Ser) NC_000023.11:31774010:C:G Identity +NM_001194954.2:c.1971G>C NP_001181883.1:p.Glu657Asp NC_000005.10:139322789:G:C p.(Glu657Asp) NC_000005.10:139322789:G:C p.(Glu657Asp) NC_000005.10:139322789:G:C Identity +NM_000273.3:c.316_323dup NP_000264.2:p.Glu109fs NC_000023.11:9760753:GTGTGGTT:GTGTGGTTGTGTGGTT p.(Glu109ThrfsTer39) NC_000023.11:9760753:GTGTGGTT:GTGTGGTTGTGTGGTT p.(Glu109ThrfsTer39) ERR:SPDI Analogous +NM_199242.3:c.1663_1664del NP_954712.1:p.Leu556fs NC_000017.11:75835709:CTCTC:CTC p.(Leu556ValfsTer28) NC_000017.11:75835709:CTCTC:CTC p.(Leu556ValfsTer28) NC_000017.11:75835709:CT: Analogous +NM_001242581.2:c.1837G>T NP_001229510.1:p.Val613Phe NC_000020.11:19975714:G:T p.(Val613Phe) NC_000020.11:19975714:G:T p.(Val613Phe) NC_000020.11:19975714:G:T Identity +NM_001112808.3:c.1319A>T NP_001106279.3:p.Asp440Val NC_000001.11:74353348:A:T p.(Asp440Val) NC_000001.11:74353348:A:T p.(Asp440Val) NC_000001.11:74353348:A:T Identity +NM_001376.5:c.3937A>G NP_001367.2:p.Ser1313Gly NC_000014.9:102000120:A:G p.(Ser1313Gly) NC_000014.9:102000120:A:G p.(Ser1313Gly) NC_000014.9:102000120:A:G Identity +NM_006231.4:c.6193A>G NP_006222.2:p.Thr2065Ala NC_000012.12:132632451:T:C p.(Thr2065Ala) NC_000012.12:132632451:T:C p.(Thr2065Ala) NC_000012.12:132632451:T:C Identity +NM_001130991.3:c.1901C>T NP_001124463.1:p.Ser634Phe NC_000011.10:119049108:G:A p.(Ser634Phe) NC_000011.10:119049108:G:A p.(Ser634Phe) NC_000011.10:119049108:G:A Identity +NM_000183.3:c.1279G>T NP_000174.1:p.Gly427Ter NC_000002.12:26285460:G:T p.(Gly427Ter) NC_000002.12:26285460:G:T p.(Gly427Ter) NC_000002.12:26285460:G:T Identity +NM_003373.4:c.2704G>A NP_003364.1:p.Ala902Thr NC_000010.11:74109114:G:A p.(Ala902Thr) NC_000010.11:74109114:G:A p.(Ala902Thr) NC_000010.11:74109114:G:A Identity +NM_015375.3:c.499C>T NP_056190.1:p.Leu167Phe NC_000001.11:205187572:G:A p.(Leu167Phe) NC_000001.11:205187572:G:A p.(Leu167Phe) NC_000001.11:205187572:G:A Identity +NM_001127384.3:c.2202_2203delinsCA NP_001120856.1:p.Ala735Thr NC_000010.11:65988753:CT:TG p.(Ala735Thr) NC_000010.11:65988753:CT:TG p.(Ala735Thr) NC_000010.11:65988753:CT:TG Identity +NM_000319.5:c.1344_1345insGG NP_000310.2:p.Arg449fs NC_000012.12:7208642:G:GGG p.(Arg449GlyfsTer16) NC_000012.12:7208642:G:GG p.(Arg449GlyfsTer16) NC_000012.12:7208643:GC:GG Analogous +NM_024685.4:c.1338dup NP_078961.3:p.Ile447fs NC_000012.12:76346646:AAAAA:AAAAAA p.(Ile447TyrfsTer3) NC_000012.12:76346646:AAAAA:AAAAAA p.(Ile447TyrfsTer3) ERR:SPDI Analogous +NM_001382627.1:c.2266C>G NP_001369556.1:p.Leu756Val NC_000004.12:102610615:C:G p.(Leu756Val) NC_000004.12:102610615:C:G p.(Leu756Val) NC_000004.12:102610615:C:G Identity +NM_000350.3:c.6173T>A NP_000341.2:p.Leu2058Gln NC_000001.11:94001966:A:T p.(Leu2058Gln) NC_000001.11:94001966:A:T p.(Leu2058Gln) NC_000001.11:94001966:A:T Identity +NM_000719.7:c.1730G>A NP_000710.5:p.Ser577Asn NC_000012.12:2567628:G:A p.(Ser577Asn) NC_000012.12:2567628:G:A p.(Ser577Asn) NC_000012.12:2567628:G:A Identity +NM_000038.6:c.6163A>G NP_000029.2:p.Arg2055Gly NC_000005.10:112841756:A:G p.(Arg2055Gly) NC_000005.10:112841756:A:G p.(Arg2055Gly) NC_000005.10:112841756:A:G Identity +NM_001844.5:c.1102C>A NP_001835.3:p.Pro368Thr NC_000012.12:47989247:G:T p.(Pro368Thr) NC_000012.12:47989247:G:T p.(Pro368Thr) NC_000012.12:47989247:G:T Identity +NM_001386500.1:c.6232T>G NP_001373429.1:p.Leu2078Val NC_000001.11:11127128:A:C p.(Leu2078Val) NC_000001.11:11127128:A:C p.(Leu2078Val) NC_000001.11:11127128:A:C Identity +NM_000059.4:c.3172A>G NP_000050.3:p.Lys1058Glu NC_000013.11:32337526:A:G p.(Lys1058Glu) NC_000013.11:32337526:A:G p.(Lys1058Glu) NC_000013.11:32337526:A:G Identity +NM_000222.3:c.2102C>A NP_000213.1:p.Ala701Glu NC_000004.12:54729445:C:A p.(Ala701Glu) NC_000004.12:54729445:C:A p.(Ala701Glu) NC_000004.12:54729445:C:A Identity +NM_001160227.2:c.704A>G NP_001153699.1:p.His235Arg NC_000015.10:44657259:T:C p.(His235Arg) NC_000015.10:44657259:T:C p.(His235Arg) NC_000015.10:44657259:T:C Identity +NM_001079821.3:c.1081G>A NP_001073289.2:p.Asp361Asn NC_000001.11:247424529:G:A p.(Asp361Asn) NC_000001.11:247424529:G:A p.(Asp361Asn) NC_000001.11:247424529:G:A Identity +NM_001287424.2:c.317C>T NP_001274353.1:p.Ala106Val NC_000019.10:33302202:G:A p.(Ala106Val) NC_000019.10:33302202:G:A p.(Ala106Val) NC_000019.10:33302202:G:A Identity +NM_001376.5:c.10136A>T NP_001367.2:p.Tyr3379Phe NC_000014.9:102033120:A:T p.(Tyr3379Phe) NC_000014.9:102033120:A:T p.(Tyr3379Phe) NC_000014.9:102033120:A:T Identity +NM_001159291.2:c.1724T>C NP_001152763.1:p.Leu575Ser NC_000006.12:109447684:A:G p.(Leu575Ser) NC_000006.12:109447684:A:G p.(Leu575Ser) NC_000006.12:109447684:A:G Identity +NM_001039210.5:c.202G>A NP_001034299.3:p.Gly68Arg NC_000023.11:111684980:G:A p.(Gly68Arg) NC_000023.11:111684980:G:A p.(Gly68Arg) NC_000023.11:111684980:G:A Identity +NM_005732.4:c.2718G>T NP_005723.2:p.Lys906Asn NC_000005.10:132604998:G:T p.(Lys906Asn) NC_000005.10:132604998:G:T p.(Lys906Asn) NC_000005.10:132604998:G:T Identity +NM_001198868.2:c.920G>A NP_001185797.1:p.Trp307Ter NC_000011.10:65188030:G:A p.(Trp307Ter) NC_000011.10:65188030:G:A p.(Trp307Ter) NC_000011.10:65188030:G:A Identity +NM_000785.4:c.1209del NP_000776.1:p.Asn405fs NC_000012.12:57764103:GGGG:GGG p.(Asn405IlefsTer69) NC_000012.12:57764103:GGGG:GGG p.(Asn405IlefsTer69) NC_000012.12:57764103:G: Analogous +NM_001164277.2:c.1190del NP_001157749.1:p.Phe397fs NC_000011.10:119025009:AA:A p.(Phe397SerfsTer6) NC_000011.10:119025009:AA:A p.(Phe397SerfsTer6) NC_000011.10:119025009:A: Analogous +NM_001256849.1:c.25C>T NP_001243778.1:p.Pro9Ser NC_000019.10:50398875:C:T p.(Pro9Ser) NC_000019.10:50398875:C:T p.(Pro9Ser) NC_000019.10:50398875:C:T Identity +NM_001393363.1:c.215G>T NP_001380292.1:p.Arg72Leu NC_000003.12:33114291:G:T p.(Arg72Leu) NC_000003.12:33114291:G:T p.(Arg72Leu) NC_000003.12:33114291:G:T Identity +NM_001320759.2:c.637dup NP_001307688.1:p.Met213fs NC_000017.11:18299626:T:TT p.(Met213AsnfsTer10) NC_000017.11:18299626:T:TT p.(Met213AsnfsTer10) ERR:SPDI Analogous +NM_000836.4:c.2168G>A NP_000827.2:p.Arg723His NC_000019.10:48421860:G:A p.(Arg723His) NC_000019.10:48421860:G:A p.(Arg723His) NC_000019.10:48421860:G:A Identity +NM_000441.2:c.320dup NP_000432.1:p.Leu108fs NC_000007.14:107672152:T:TT p.(Leu108ThrfsTer74) NC_000007.14:107672152:T:TT p.(Leu108ThrfsTer74) ERR:SPDI Analogous +NM_014254.3:c.539G>A NP_055069.1:p.Trp180Ter NC_000012.12:63802200:G:A p.(Trp180Ter) NC_000012.12:63802200:G:A p.(Trp180Ter) NC_000012.12:63802200:G:A Identity +NM_030662.4:c.886C>T NP_109587.1:p.Pro296Ser NC_000019.10:4099233:G:A p.(Pro296Ser) NC_000019.10:4099233:G:A p.(Pro296Ser) NC_000019.10:4099233:G:A Identity +NM_001127244.2:c.389T>C NP_001120716.1:p.Leu130Pro NC_000009.12:128907552:T:C p.(Leu130Pro) NC_000009.12:128907552:T:C p.(Leu130Pro) NC_000009.12:128907552:T:C Identity +NM_001204824.2:c.913G>T NP_001191753.1:p.Gly305Cys NC_000008.11:132141320:C:A p.(Gly305Cys) NC_000008.11:132141320:C:A p.(Gly305Cys) NC_000008.11:132141320:C:A Identity +NM_001165963.4:c.5599A>G NP_001159435.1:p.Ile1867Val NC_000002.12:165991675:T:C p.(Ile1867Val) NC_000002.12:165991675:T:C p.(Ile1867Val) NC_000002.12:165991675:T:C Identity +NM_003482.4:c.8924G>T NP_003473.3:p.Arg2975Leu NC_000012.12:49038431:C:A p.(Arg2975Leu) NC_000012.12:49038431:C:A p.(Arg2975Leu) NC_000012.12:49038431:C:A Identity +NM_000258.3:c.31G>T NP_000249.1:p.Asp11Tyr NC_000003.12:46863359:C:A p.(Asp11Tyr) NC_000003.12:46863359:C:A p.(Asp11Tyr) NC_000003.12:46863359:C:A Identity +NM_001081676.2:c.2817C>G NP_001075145.1:p.Ser939Arg NC_000002.12:165128059:G:C p.(Ser939Arg) NC_000002.12:165128059:G:C p.(Ser939Arg) NC_000002.12:165128059:G:C Identity +NM_001193416.3:c.959T>C NP_001180345.1:p.Leu320Ser NC_000023.11:41344332:T:C p.(Leu320Ser) NC_000023.11:41344332:T:C p.(Leu320Ser) NC_000023.11:41344332:T:C Identity +NM_001324191.2:c.406_418del NP_001311120.1:p.Gly136fs NC_000020.11:3912499:TGGCTGTACCACTT:T p.(Gly136LeufsTer19) NC_000020.11:3912499:TGGCTGTACCACTT:T p.(Gly136LeufsTer19) NC_000020.11:3912500:GGCTGTACCACTT: Analogous +NM_022039.4:c.707C>A NP_071322.2:p.Thr236Lys NC_000010.11:101694398:G:T p.(Thr236Lys) NC_000010.11:101694398:G:T p.(Thr236Lys) NC_000010.11:101694398:G:T Identity +NM_000720.4:c.5960G>A NP_000711.1:p.Ser1987Asn NC_000003.12:53810005:G:A p.(Ser1987Asn) NC_000003.12:53810005:G:A p.(Ser1987Asn) NC_000003.12:53810005:G:A Identity +NM_022114.4:c.2870G>A NP_071397.3:p.Gly957Glu NC_000001.11:3418674:G:A p.(Gly957Glu) NC_000001.11:3418674:G:A p.(Gly957Glu) NC_000001.11:3418674:G:A Identity +NM_001136536.5:c.1065T>A NP_001130008.2:p.His355Gln NC_000004.12:36308332:T:A p.(His355Gln) NC_000004.12:36308332:T:A p.(His355Gln) NC_000004.12:36308332:T:A Identity +NM_001075098.4:c.421C>T NP_001068566.1:p.Gln141Ter NC_000006.12:39916229:G:A p.(Gln141Ter) NC_000006.12:39916229:G:A p.(Gln141Ter) NC_000006.12:39916229:G:A Identity +NM_000720.4:c.6431A>G NP_000711.1:p.His2144Arg NC_000003.12:53811290:A:G p.(His2144Arg) NC_000003.12:53811290:A:G p.(His2144Arg) NC_000003.12:53811290:A:G Identity +NM_000334.4:c.2989G>A NP_000325.4:p.Ala997Thr NC_000017.11:63949392:C:T p.(Ala997Thr) NC_000017.11:63949392:C:T p.(Ala997Thr) NC_000017.11:63949392:C:T Identity +NM_001270523.2:c.339del NP_001257452.1:p.Lys114fs NC_000014.9:56802265:C: p.(Lys114ArgfsTer8) NC_000014.9:56802265:C: p.(Lys114ArgfsTer8) NC_000014.9:56802265:C: Analogous +NM_015909.4:c.1787T>C NP_056993.2:p.Val596Ala NC_000002.12:15468471:A:G p.(Val596Ala) NC_000002.12:15468471:A:G p.(Val596Ala) NC_000002.12:15468471:A:G Identity +NM_001134830.2:c.2388dup NP_001128302.1:p.Glu797Ter NC_000006.12:135429985:A:AA p.(Glu797Ter) NC_000006.12:135429985:A:AA p.(Glu797Ter) ERR:SPDI Identity +NM_001291411.2:c.4559A>T NP_001278340.2:p.Lys1520Ile NC_000021.9:33553789:A:T p.(Lys1520Ile) NC_000021.9:33553789:A:T p.(Lys1520Ile) NC_000021.9:33553789:A:T Identity +NM_000195.5:c.959_962dup NP_000186.2:p.Thr322fs NC_000010.11:98427239:CCCCCC:CCCCCCCCCC p.(Thr322GlyfsTer132) NC_000010.11:98427239:CCCCCC:CCCCCCCCCC p.(Thr322GlyfsTer132) ERR:SPDI Analogous +NM_000188.3:c.1573A>G NP_000179.2:p.Asn525Asp NC_000010.11:69384334:A:G p.(Asn525Asp) NC_000010.11:69384334:A:G p.(Asn525Asp) NC_000010.11:69384334:A:G Identity +NM_001853.4:c.1697G>A NP_001844.3:p.Gly566Glu NC_000020.11:62837175:G:A p.(Gly566Glu) NC_000020.11:62837175:G:A p.(Gly566Glu) NC_000020.11:62837175:G:A Identity +NM_000812.4:c.1043C>T NP_000803.2:p.Ala348Val NC_000004.12:47406888:C:T p.(Ala348Val) NC_000004.12:47406888:C:T p.(Ala348Val) NC_000004.12:47406888:C:T Identity +NM_001136139.4:c.25C>T NP_001129611.1:p.Pro9Ser NC_000019.10:1650223:G:A p.(Pro9Ser) NC_000019.10:1650223:G:A p.(Pro9Ser) NC_000019.10:1650223:G:A Identity +NM_006950.3:c.1594C>T NP_008881.2:p.Gln532Ter NC_000023.11:47574389:G:A p.(Gln532Ter) NC_000023.11:47574389:G:A p.(Gln532Ter) NC_000023.11:47574389:G:A Identity +NM_001065.4:c.626G>T NP_001056.1:p.Gly209Val NC_000012.12:6330710:C:A p.(Gly209Val) NC_000012.12:6330710:C:A p.(Gly209Val) NC_000012.12:6330710:C:A Identity +NM_000832.7:c.997G>T NP_000823.4:p.Gly333Trp NC_000009.12:137158406:G:T p.(Gly333Trp) NC_000009.12:137158406:G:T p.(Gly333Trp) NC_000009.12:137158406:G:T Identity +NM_000525.4:c.662G>C NP_000516.3:p.Arg221Pro NC_000011.10:17387429:C:G p.(Arg221Pro) NC_000011.10:17387429:C:G p.(Arg221Pro) NC_000011.10:17387429:C:G Identity +NM_000288.4:c.751dup NP_000279.1:p.Ser251fs NC_000006.12:136872197:TTTT:TTTTT p.(Ser251PhefsTer14) NC_000006.12:136872197:TTTT:TTTTT p.(Ser251PhefsTer14) ERR:SPDI Analogous +NM_001411087.1:c.1172C>T NP_001398016.1:p.Pro391Leu NC_000019.10:45032722:C:T p.(Pro391Leu) NC_000019.10:45032722:C:T p.(Pro391Leu) NC_000019.10:45032722:C:T Identity +NM_000836.4:c.1070G>A NP_000827.2:p.Gly357Asp NC_000019.10:48405337:G:A p.(Gly357Asp) NC_000019.10:48405337:G:A p.(Gly357Asp) NC_000019.10:48405337:G:A Identity +NM_002876.4:c.235T>G NP_002867.1:p.Ser79Ala NC_000017.11:58695019:T:G p.(Ser79Ala) NC_000017.11:58695019:T:G p.(Ser79Ala) NC_000017.11:58695019:T:G Identity +NM_001291411.2:c.6016A>G NP_001278340.2:p.Arg2006Gly NC_000021.9:33555246:A:G p.(Arg2006Gly) NC_000021.9:33555246:A:G p.(Arg2006Gly) NC_000021.9:33555246:A:G Identity +NM_001193307.2:c.1645G>C NP_001180236.1:p.Val549Leu NC_000007.14:93104452:C:G p.(Val549Leu) NC_000007.14:93104452:C:G p.(Val549Leu) NC_000007.14:93104452:C:G Identity +NM_015657.4:c.5690_5691del NP_056472.2:p.Leu1897fs NC_000002.12:214953855:GAG:G p.(Leu1897GlnfsTer8) NC_000002.12:214953855:GAG:G p.(Leu1897GlnfsTer8) NC_000002.12:214953855:GA: Analogous +NM_198525.3:c.1462C>T NP_940927.2:p.Gln488Ter NC_000015.10:89647693:G:A p.(Gln488Ter) NC_000015.10:89647693:G:A p.(Gln488Ter) NC_000015.10:89647693:G:A Identity +NM_000228.3:c.1948C>T NP_000219.2:p.Gln650Ter NC_000001.11:209625675:G:A p.(Gln650Ter) NC_000001.11:209625675:G:A p.(Gln650Ter) NC_000001.11:209625675:G:A Identity +NM_006218.4:c.586G>T NP_006209.2:p.Val196Leu NC_000003.12:179201312:G:T p.(Val196Leu) NC_000003.12:179201312:G:T p.(Val196Leu) NC_000003.12:179201312:G:T Identity +LRG_690t1:c.290del LRG_690p1:p.Gln97Argfs NC_000001.11:40092116:T: ERR:Data provider error: ValueError: Transcript LRG_690t1 not found ERR:Data provider error: ValueError: Transcript LRG_690t1 not found ERR:AlignmentMapper(tx_ac=LRG_690t1, alt_ac=LRG_690t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_690t1, alt_ac=LRG_690t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_690t1 not found +NM_001692.4:c.246_247insC NP_001683.2:p.Val83fs NC_000002.12:70958117::C p.(Val83ArgfsTer12) NC_000002.12:70958116:G:C p.(Val83ArgfsTer12) NC_000002.12:70958117:GG:C Analogous +NM_001410754.1:c.261C>G NP_001397683.1:p.Ile87Met NC_000005.10:93588163:C:G p.(Ile87Met) NC_000005.10:93588163:C:G p.(Ile87Met) NC_000005.10:93588163:C:G Identity +NM_000540.3:c.10214T>A NP_000531.2:p.Leu3405His NC_000019.10:38519408:T:A p.(Leu3405His) NC_000019.10:38519408:T:A p.(Leu3405His) NC_000019.10:38519408:T:A Identity +NM_001177984.3:c.1810C>A NP_001171455.1:p.Pro604Thr NC_000012.12:51721719:C:A p.(Pro604Thr) NC_000012.12:51721719:C:A p.(Pro604Thr) NC_000012.12:51721719:C:A Identity +NM_001005609.2:c.952T>C NP_001005609.1:p.Tyr318His NC_000023.11:70035390:T:C p.(Tyr318His) NC_000023.11:70035390:T:C p.(Tyr318His) NC_000023.11:70035390:T:C Identity +NM_001346897.2:c.2749C>A NP_001333826.1:p.Arg917Ser NC_000007.14:55200350:C:A p.(Arg917Ser) NC_000007.14:55200350:C:A p.(Arg917Ser) NC_000007.14:55200350:C:A Identity +NM_001130438.3:c.4296G>T NP_001123910.1:p.Lys1432Asn NC_000009.12:128608000:G:T p.(Lys1432Asn) NC_000009.12:128608000:G:T p.(Lys1432Asn) NC_000009.12:128608000:G:T Identity +NM_001005242.3:c.2368A>G NP_001005242.2:p.Asn790Asp NC_000012.12:32792720:T:C p.(Asn790Asp) NC_000012.12:32792720:T:C p.(Asn790Asp) NC_000012.12:32792720:T:C Identity +NM_001048171.2:c.718C>T NP_001041636.2:p.Gln240Ter NC_000001.11:45332296:G:A p.(Gln240Ter) NC_000001.11:45332296:G:A p.(Gln240Ter) NC_000001.11:45332296:G:A Identity +NM_003803.4:c.926dup NP_003794.3:p.Trp310fs NC_000018.10:3187482:G:GG p.(Trp310ValfsTer3) NC_000018.10:3187482:G:GG p.(Trp310ValfsTer3) ERR:SPDI Analogous +NM_000425.5:c.16C>T NP_000416.1:p.Arg6Trp NC_000023.11:153875820:G:A p.(Arg6Trp) NC_000023.11:153875820:G:A p.(Arg6Trp) NC_000023.11:153875820:G:A Identity +NM_000238.4:c.164C>G NP_000229.1:p.Ser55Trp NC_000007.14:150974853:G:C p.(Ser55Trp) NC_000007.14:150974853:G:C p.(Ser55Trp) NC_000007.14:150974853:G:C Identity +NM_018163.3:c.277del NP_060633.1:p.Arg93fs NC_000015.10:40779240:TTTT:TTT p.(Arg93GlyfsTer4) NC_000015.10:40779240:TTTT:TTT p.(Arg93GlyfsTer4) NC_000015.10:40779240:T: Analogous +NM_000548.5:c.3161G>A NP_000539.2:p.Gly1054Asp NC_000016.10:2079304:G:A p.(Gly1054Asp) NC_000016.10:2079304:G:A p.(Gly1054Asp) NC_000016.10:2079304:G:A Identity +NM_000832.7:c.128G>T NP_000823.4:p.Arg43Leu NC_000009.12:137139613:G:T p.(Arg43Leu) NC_000009.12:137139613:G:T p.(Arg43Leu) NC_000009.12:137139613:G:T Identity +NM_000061.3:c.754del NP_000052.1:p.Trp252fs NC_000023.11:101360589:A: p.(Trp252GlyfsTer25) NC_000023.11:101360589:A: p.(Trp252GlyfsTer25) NC_000023.11:101360589:A: Analogous +NM_001134335.2:c.1797A>T NP_001127807.1:p.Gln599His NC_000007.14:6024765:T:A p.(Gln599His) NC_000007.14:6024765:T:A p.(Gln599His) NC_000007.14:6024765:T:A Identity +NM_001024688.3:c.1909_1910del NP_001019859.1:p.Leu637fs NC_000008.11:89943280:AG: p.(Leu637ArgfsTer22) NC_000008.11:89943280:AG: p.(Leu637ArgfsTer22) NC_000008.11:89943280:AG: Analogous +NM_153006.3:c.339C>A NP_694551.1:p.Cys113Ter NC_000017.11:44005001:C:A p.(Cys113Ter) NC_000017.11:44005001:C:A p.(Cys113Ter) NC_000017.11:44005001:C:A Identity +NM_001371986.1:c.6216C>A NP_001358915.1:p.Cys2072Ter NC_000002.12:209935750:C:A p.(Cys2072Ter) NC_000002.12:209935750:C:A p.(Cys2072Ter) NC_000002.12:209935750:C:A Identity +NM_001347827.2:c.438del NP_001334756.1:p.Ile147fs NC_000004.12:54263735:CC:C p.(Ile147LeufsTer13) NC_000004.12:54263735:CC:C p.(Ile147LeufsTer13) NC_000004.12:54263736:C: Analogous +NM_001281463.1:c.889_890del NP_001268392.1:p.Leu297fs NC_000023.11:53412151:AGAGA:AGA p.(Leu297AlafsTer11) NC_000023.11:53412151:AGAGA:AGA p.(Leu297AlafsTer11) NC_000023.11:53412151:AG: Analogous +NM_001353765.2:c.425A>T NP_001340694.1:p.Glu142Val NC_000002.12:29220721:T:A p.(Glu142Val) NC_000002.12:29220721:T:A p.(Glu142Val) NC_000002.12:29220721:T:A Identity +NM_001354705.2:c.2764C>A NP_001341634.1:p.Pro922Thr NC_000012.12:57583110:C:A p.(Pro922Thr) NC_000012.12:57583110:C:A p.(Pro922Thr) NC_000012.12:57583110:C:A Identity +NM_001195226.2:c.725A>G NP_001182155.2:p.Glu242Gly NC_000022.11:18919760:T:C p.(Glu242Gly) NC_000022.11:18919760:T:C p.(Glu242Gly) NC_000022.11:18919760:T:C Identity +NM_000075.4:c.13C>T NP_000066.1:p.Arg5Ter NC_000012.12:57751704:G:A p.(Arg5Ter) NC_000012.12:57751704:G:A p.(Arg5Ter) NC_000012.12:57751704:G:A Identity +NM_006031.6:c.2273A>G NP_006022.3:p.Glu758Gly NC_000021.9:46363597:A:G p.(Glu758Gly) NC_000021.9:46363597:A:G p.(Glu758Gly) NC_000021.9:46363597:A:G Identity +NM_207361.6:c.6716_6717del NP_997244.4:p.Leu2239fs NC_000013.11:38851078:CTCTC:CTC p.(Leu2239HisfsTer6) NC_000013.11:38851078:CTCTC:CTC p.(Leu2239HisfsTer6) NC_000013.11:38851081:TC: Analogous +NM_001079846.1:c.2714A>G NP_001073315.1:p.Gln905Arg NC_000016.10:3770621:T:C p.(Gln905Arg) NC_000016.10:3770621:T:C p.(Gln905Arg) NC_000016.10:3770621:T:C Identity +NM_000516.7:c.278A>G NP_000507.1:p.Gln93Arg NC_000020.11:58903550:A:G p.(Gln93Arg) NC_000020.11:58903550:A:G p.(Gln93Arg) NC_000020.11:58903550:A:G Identity +NM_000038.6:c.7708T>G NP_000029.2:p.Ser2570Ala NC_000005.10:112843301:T:G p.(Ser2570Ala) NC_000005.10:112843301:T:G p.(Ser2570Ala) NC_000005.10:112843301:T:G Identity +NM_030928.4:c.293T>C NP_112190.2:p.Ile98Thr NC_000016.10:88804608:T:C p.(Ile98Thr) NC_000016.10:88804608:T:C p.(Ile98Thr) NC_000016.10:88804608:T:C Identity +NM_005862.3:c.2445G>T NP_005853.2:p.Gln815His NC_000003.12:136369207:C:A p.(Gln815His) NC_000003.12:136369207:C:A p.(Gln815His) NC_000003.12:136369207:C:A Identity +NM_003128.3:c.485T>C NP_003119.2:p.Ile162Thr NC_000002.12:54616216:T:C p.(Ile162Thr) NC_000002.12:54616216:T:C p.(Ile162Thr) NC_000002.12:54616216:T:C Identity +NM_001411020.1:c.2486A>G NP_001397949.1:p.Asp829Gly NC_000014.9:50145251:T:C p.(Asp829Gly) NC_000014.9:50145251:T:C p.(Asp829Gly) NC_000014.9:50145251:T:C Identity +NM_152594.3:c.962A>G NP_689807.1:p.Lys321Arg NC_000015.10:38351290:A:G p.(Lys321Arg) NC_000015.10:38351290:A:G p.(Lys321Arg) NC_000015.10:38351290:A:G Identity +NM_006662.3:c.2828T>C NP_006653.2:p.Met943Thr NC_000016.10:30720171:T:C p.(Met943Thr) NC_000016.10:30720171:T:C p.(Met943Thr) NC_000016.10:30720171:T:C Identity +NM_001128844.3:c.2368A>G NP_001122316.1:p.Ile790Val NC_000019.10:11013041:A:G p.(Ile790Val) NC_000019.10:11013041:A:G p.(Ile790Val) NC_000019.10:11013041:A:G Identity +NM_001256442.2:c.475G>A NP_001243371.1:p.Glu159Lys NC_000016.10:29813528:G:A p.(Glu159Lys) NC_000016.10:29813528:G:A p.(Glu159Lys) NC_000016.10:29813528:G:A Identity +NM_015450.3:c.353C>T NP_056265.2:p.Thr118Ile NC_000007.14:124863542:G:A p.(Thr118Ile) NC_000007.14:124863542:G:A p.(Thr118Ile) NC_000007.14:124863542:G:A Identity +NM_001346899.2:c.3323G>A NP_001333828.1:p.Ser1108Asn NC_000007.14:55205441:G:A p.(Ser1108Asn) NC_000007.14:55205441:G:A p.(Ser1108Asn) NC_000007.14:55205441:G:A Identity +NM_001999.4:c.2092G>T NP_001990.2:p.Val698Phe NC_000005.10:128374630:C:A p.(Val698Phe) NC_000005.10:128374630:C:A p.(Val698Phe) NC_000005.10:128374630:C:A Identity +NM_001270507.2:c.872T>A NP_001257436.1:p.Leu291Ter NC_000006.12:137877141:T:A p.(Leu291Ter) NC_000006.12:137877141:T:A p.(Leu291Ter) NC_000006.12:137877141:T:A Identity +NM_001378183.1:c.6001A>T NP_001365112.1:p.Met2001Leu NC_000018.10:10704650:T:A p.(Met2001Leu) NC_000018.10:10704650:T:A p.(Met2001Leu) NC_000018.10:10704650:T:A Identity +NM_001372.4:c.7875dup NP_001363.2:p.Ile2626fs NC_000017.11:11784352:T:TT p.(Ile2626TyrfsTer85) NC_000017.11:11784352:T:TT p.(Ile2626TyrfsTer85) ERR:SPDI Analogous +NM_001126131.2:c.796G>C NP_001119603.1:p.Val266Leu NC_000015.10:89330139:C:G p.(Val266Leu) NC_000015.10:89330139:C:G p.(Val266Leu) NC_000015.10:89330139:C:G Identity +NM_021116.4:c.1693G>A NP_066939.1:p.Val565Ile NC_000007.14:45677955:G:A p.(Val565Ile) NC_000007.14:45677955:G:A p.(Val565Ile) NC_000007.14:45677955:G:A Identity +NM_001168249.1:c.2230delT NP_001161721.1:p.Pro745Glnfs NC_000001.11:102979411:AAA:AA ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001317184.2:c.4G>C NP_001304113.1:p.Gly2Arg NC_000016.10:68737418:G:C p.(Gly2Arg) NC_000016.10:68737418:G:C p.(Gly2Arg) NC_000016.10:68737418:G:C Identity +NM_001172574.2:c.595C>T NP_001166045.2:p.Gln199Ter NC_000008.11:6442080:C:T p.(Gln199Ter) NC_000008.11:6442080:C:T p.(Gln199Ter) NC_000008.11:6442080:C:T Identity +NM_017780.4:c.4613C>G NP_060250.2:p.Ala1538Gly NC_000008.11:60841722:C:G p.(Ala1538Gly) NC_000008.11:60841722:C:G p.(Ala1538Gly) NC_000008.11:60841722:C:G Identity +NM_001029882.3:c.329G>A NP_001025053.1:p.Cys110Tyr NC_000001.11:27551786:C:T p.(Cys110Tyr) NC_000001.11:27551786:C:T p.(Cys110Tyr) NC_000001.11:27551786:C:T Identity +NM_001207055.2:c.1858_1861del NP_001193984.1:p.Ser620fs NC_000020.11:32801322:ACTCAC:AC p.(Ser620AlafsTer18) NC_000020.11:32801322:ACTCAC:AC p.(Ser620AlafsTer18) NC_000020.11:32801324:TCAC: Analogous +NM_000478.6:c.550C>G NP_000469.3:p.Arg184Gly NC_000001.11:21564117:C:G p.(Arg184Gly) NC_000001.11:21564117:C:G p.(Arg184Gly) NC_000001.11:21564117:C:G Identity +NM_001160227.2:c.4874dup NP_001153699.1:p.Phe1626fs NC_000015.10:44589283:A:AA p.(Phe1626LeufsTer3) NC_000015.10:44589283:A:AA p.(Phe1626LeufsTer3) ERR:SPDI Analogous +NM_004459.7:c.7459C>T NP_004450.3:p.Pro2487Ser NC_000017.11:67945788:C:T p.(Pro2487Ser) NC_000017.11:67945788:C:T p.(Pro2487Ser) NC_000017.11:67945788:C:T Identity +NM_005732.4:c.1457G>C NP_005723.2:p.Arg486Pro NC_000005.10:132591227:G:C p.(Arg486Pro) NC_000005.10:132591227:G:C p.(Arg486Pro) NC_000005.10:132591227:G:C Identity +NM_000520.6:c.3G>T NP_000511.2:p.Met1Ile NC_000015.10:72375969:C:A p.(Met1Ile) NC_000015.10:72375969:C:A p.Met1? NC_000015.10:72375969:C:A Identity +NM_000088.4:c.3463del NP_000079.2:p.Leu1155fs NC_000017.11:50187082:G: p.(Leu1155SerfsTer84) NC_000017.11:50187082:G: p.(Leu1155SerfsTer84) NC_000017.11:50187082:G: Analogous +NM_001111125.3:c.3884A>T NP_001104595.1:p.Gln1295Leu NC_000023.11:53234801:T:A p.(Gln1295Leu) NC_000023.11:53234801:T:A p.(Gln1295Leu) NC_000023.11:53234801:T:A Identity +NM_001318031.2:c.1720G>A NP_001304960.1:p.Ala574Thr NC_000020.11:51784395:C:T p.(Ala574Thr) NC_000020.11:51784395:C:T p.(Ala574Thr) NC_000020.11:51784395:C:T Identity +NM_000142.5:c.1058G>A NP_000133.1:p.Trp353Ter NC_000004.12:1803818:G:A p.(Trp353Ter) NC_000004.12:1803818:G:A p.(Trp353Ter) NC_000004.12:1803818:G:A Identity +NM_001029896.2:c.673A>T NP_001025067.1:p.Lys225Ter NC_000023.11:49075596:T:A p.(Lys225Ter) NC_000023.11:49075596:T:A p.(Lys225Ter) NC_000023.11:49075596:T:A Identity +NM_018060.4:c.419del NP_060530.3:p.His140fs NC_000001.11:220100517:A: p.(His140LeufsTer2) NC_000001.11:220100517:A: p.(His140LeufsTer2) NC_000001.11:220100517:A: Analogous +NM_001166496.2:c.723G>T NP_001159968.1:p.Glu241Asp NC_000001.11:112917682:C:A p.(Glu241Asp) NC_000001.11:112917682:C:A p.(Glu241Asp) NC_000001.11:112917682:C:A Identity +NM_001102406.2:c.2366G>A NP_001095876.1:p.Gly789Glu NC_000004.12:112431912:G:A p.(Gly789Glu) NC_000004.12:112431912:G:A p.(Gly789Glu) NC_000004.12:112431912:G:A Identity +NM_001039590.3:c.385A>G NP_001034679.2:p.Thr129Ala NC_000023.11:41134786:A:G p.(Thr129Ala) NC_000023.11:41134786:A:G p.(Thr129Ala) NC_000023.11:41134786:A:G Identity +NM_000383.4:c.733A>G NP_000374.1:p.Lys245Glu NC_000021.9:44289736:A:G p.(Lys245Glu) NC_000021.9:44289736:A:G p.(Lys245Glu) NC_000021.9:44289736:A:G Identity +NM_001329903.2:c.604dup NP_001316832.1:p.Glu202fs NC_000017.11:1772035:G:GG p.(Glu202GlyfsTer21) NC_000017.11:1772035:G:GG p.(Glu202GlyfsTer21) ERR:SPDI Analogous +NM_001083116.3:c.65dup NP_001076585.1:p.Cys23fs NC_000010.11:70600837:GGGG:GGGGG p.(Cys23ValfsTer55) NC_000010.11:70600837:GGGG:GGGGG p.(Cys23ValfsTer55) ERR:SPDI Analogous +NM_000742.4:c.220G>A NP_000733.2:p.Ala74Thr NC_000008.11:27469834:C:T p.(Ala74Thr) NC_000008.11:27469834:C:T p.(Ala74Thr) NC_000008.11:27469834:C:T Identity +NM_001277115.2:c.8615G>A NP_001264044.1:p.Arg2872His NC_000007.14:21748683:G:A p.(Arg2872His) NC_000007.14:21748683:G:A p.(Arg2872His) NC_000007.14:21748683:G:A Identity +NM_001177428.1:c.1232T>C NP_001170899.1:p.Leu411Pro NC_000012.12:109794446:A:G p.(Leu411Pro) NC_000012.12:109794446:A:G p.(Leu411Pro) NC_000012.12:109794446:A:G Identity +NM_001127892.2:c.2509A>G NP_001121364.1:p.Ser837Gly NC_000016.10:51139421:T:C p.(Ser837Gly) NC_000016.10:51139421:T:C p.(Ser837Gly) NC_000016.10:51139421:T:C Identity +NM_006767.4:c.929A>G NP_006758.2:p.Glu310Gly NC_000022.11:20991764:A:G p.(Glu310Gly) NC_000022.11:20991764:A:G p.(Glu310Gly) NC_000022.11:20991764:A:G Identity +NM_000059.4:c.1426T>A NP_000050.3:p.Ser476Thr NC_000013.11:32332903:T:A p.(Ser476Thr) NC_000013.11:32332903:T:A p.(Ser476Thr) NC_000013.11:32332903:T:A Identity +NM_005477.3:c.620G>C NP_005468.1:p.Arg207Pro NC_000015.10:73367650:C:G p.(Arg207Pro) NC_000015.10:73367650:C:G p.(Arg207Pro) NC_000015.10:73367650:C:G Identity +NM_001178032.3:c.481C>T NP_001171503.1:p.Pro161Ser NC_000023.11:64919052:G:A p.(Pro161Ser) NC_000023.11:64919052:G:A p.(Pro161Ser) NC_000023.11:64919052:G:A Identity +NM_001194998.2:c.190C>T NP_001181927.1:p.Gln64Ter NC_000015.10:48797948:G:A p.(Gln64Ter) NC_000015.10:48797948:G:A p.(Gln64Ter) NC_000015.10:48797948:G:A Identity +NM_001413017.1:c.2687A>C NP_001399946.1:p.Asp896Ala NC_000008.11:144512465:T:G p.(Asp896Ala) NC_000008.11:144512465:T:G p.(Asp896Ala) NC_000008.11:144512465:T:G Identity +NM_005249.5:c.1414T>A NP_005240.3:p.Ser472Thr NC_000014.9:28768692:T:A p.(Ser472Thr) NC_000014.9:28768692:T:A p.(Ser472Thr) NC_000014.9:28768692:T:A Identity +NM_001321307.1:c.917A>G NP_001308236.1:p.His306Arg NC_000011.10:108177079:T:C p.(His306Arg) NC_000011.10:108177079:T:C p.(His306Arg) NC_000011.10:108177079:T:C Identity +NM_000528.4:c.603_604del NP_000519.2:p.Arg202fs NC_000019.10:12664817:GAGAG:GAG p.(Arg202GlyfsTer20) NC_000019.10:12664817:GAGAG:GAG p.(Arg202GlyfsTer20) NC_000019.10:12664817:GA: Analogous +NM_000051.4:c.3625T>G NP_000042.3:p.Phe1209Val NC_000011.10:108282757:T:G p.(Phe1209Val) NC_000011.10:108282757:T:G p.(Phe1209Val) NC_000011.10:108282757:T:G Identity +NM_024649.5:c.331del NP_078925.3:p.Cys111fs NC_000011.10:66514575:TT:T p.(Cys111ValfsTer40) NC_000011.10:66514575:TT:T p.(Cys111ValfsTer40) NC_000011.10:66514576:T: Analogous +NM_001271.4:c.4955A>G NP_001262.3:p.Asn1652Ser NC_000015.10:93020059:A:G p.(Asn1652Ser) NC_000015.10:93020059:A:G p.(Asn1652Ser) NC_000015.10:93020059:A:G Identity +NM_001291415.2:c.1151G>T NP_001278344.1:p.Cys384Phe NC_000023.11:45059422:G:T p.(Cys384Phe) NC_000023.11:45059422:G:T p.(Cys384Phe) NC_000023.11:45059422:G:T Identity +NM_000368.5:c.1445T>C NP_000359.1:p.Ile482Thr NC_000009.12:132906132:A:G p.(Ile482Thr) NC_000009.12:132906132:A:G p.(Ile482Thr) NC_000009.12:132906132:A:G Identity +NM_001127892.2:c.2034_2040dup NP_001121364.1:p.Ala681fs NC_000016.10:51139890:GTTCGTG:GTTCGTGGTTCGTG p.(Ala681HisfsTer29) NC_000016.10:51139890:GTTCGTG:GTTCGTGGTTCGTG p.(Ala681HisfsTer29) ERR:SPDI Analogous +NM_001256182.2:c.7433T>C NP_001243111.1:p.Leu2478Pro NC_000016.10:89279108:A:G p.(Leu2478Pro) NC_000016.10:89279108:A:G p.(Leu2478Pro) NC_000016.10:89279108:A:G Identity +NM_004429.5:c.431G>A NP_004420.1:p.Gly144Glu NC_000023.11:68839687:G:A p.(Gly144Glu) NC_000023.11:68839687:G:A p.(Gly144Glu) NC_000023.11:68839687:G:A Identity +NM_001407274.1:c.59G>A NP_001394203.1:p.Ser20Asn NC_000003.12:14129457:G:A p.(Ser20Asn) NC_000003.12:14129457:G:A p.(Ser20Asn) NC_000003.12:14129457:G:A Identity +NM_001033604.2:c.1894_1898del NP_001028776.1:p.Ser632fs NC_000007.14:33388026:ATCTGA:A p.(Ser632GlufsTer19) NC_000007.14:33388026:ATCTGA:A p.(Ser632GlufsTer19) NC_000007.14:33388027:TCTGA: Analogous +NM_016239.4:c.887del NP_057323.3:p.Gly296fs NC_000017.11:18119685:GG:G p.(Gly296ValfsTer148) NC_000017.11:18119685:GG:G p.(Gly296ValfsTer148) NC_000017.11:18119686:G: Analogous +NM_001167614.2:c.277C>T NP_001161086.1:p.Pro93Ser NC_000012.12:65169872:C:T p.(Pro93Ser) NC_000012.12:65169872:C:T p.(Pro93Ser) NC_000012.12:65169872:C:T Identity +NM_001350748.2:c.983T>C NP_001337677.1:p.Ile328Thr NC_000013.11:101292053:A:G p.(Ile328Thr) NC_000013.11:101292053:A:G p.(Ile328Thr) NC_000013.11:101292053:A:G Identity +NM_001386500.1:c.2467A>T NP_001373429.1:p.Ile823Phe NC_000001.11:11232482:T:A p.(Ile823Phe) NC_000001.11:11232482:T:A p.(Ile823Phe) NC_000001.11:11232482:T:A Identity +NM_020778.5:c.256del NP_065829.4:p.Arg86fs NC_000015.10:84827554:CCC:CC p.(Arg86GlyfsTer23) NC_000015.10:84827554:CCC:CC p.(Arg86GlyfsTer23) NC_000015.10:84827556:C: Analogous +NM_001161482.1:c.1008C>G NP_001154954.1:p.His336Gln NC_000010.11:246822:C:G ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_207361.6:c.6964G>T NP_997244.4:p.Glu2322Ter NC_000013.11:38856163:G:T p.(Glu2322Ter) NC_000013.11:38856163:G:T p.(Glu2322Ter) NC_000013.11:38856163:G:T Identity +NM_001163812.2:c.1635T>G NP_001157284.1:p.Phe545Leu NC_000010.11:100990910:T:G p.(Phe545Leu) NC_000010.11:100990910:T:G p.(Phe545Leu) NC_000010.11:100990910:T:G Identity +NM_001365023.1:c.380_392del NP_001351952.1:p.Glu127fs NC_000009.12:74642521:CAGAAGCCCTTGCCAG:CAG p.(Glu127GlyfsTer11) NC_000009.12:74642521:CAGAAGCCCTTGCCAG:CAG p.(Glu127GlyfsTer11) NC_000009.12:74642524:AAGCCCTTGCCAG: Analogous +NM_001277115.2:c.10841_10844dup NP_001264044.1:p.Gln3615fs NC_000007.14:21842692:CCCA:CCCACCCA p.(Gln3615HisfsTer11) NC_000007.14:21842692:CCCA:CCCACCCA p.(Gln3615HisfsTer11) ERR:SPDI Analogous +NM_004104.5:c.224T>C NP_004095.4:p.Met75Thr NC_000017.11:82095375:A:G p.(Met75Thr) NC_000017.11:82095375:A:G p.(Met75Thr) NC_000017.11:82095375:A:G Identity +NM_001288653.2:c.1072C>T NP_001275582.1:p.Arg358Cys NC_000017.11:59660480:C:T p.(Arg358Cys) NC_000017.11:59660480:C:T p.(Arg358Cys) NC_000017.11:59660480:C:T Identity +NM_000244.4:c.41G>C NP_000235.3:p.Arg14Pro NC_000011.10:64810068:C:G p.(Arg14Pro) NC_000011.10:64810068:C:G p.(Arg14Pro) NC_000011.10:64810068:C:G Identity +NM_000256.3:c.2950C>G NP_000247.2:p.Gln984Glu NC_000011.10:47333965:G:C p.(Gln984Glu) NC_000011.10:47333965:G:C p.(Gln984Glu) NC_000011.10:47333965:G:C Identity +NM_001080463.2:c.2247G>A NP_001073932.1:p.Trp749Ter NC_000011.10:103135535:G:A p.(Trp749Ter) NC_000011.10:103135535:G:A p.(Trp749Ter) NC_000011.10:103135535:G:A Identity +NM_005120.3:c.4652C>T NP_005111.2:p.Thr1551Ile NC_000023.11:71134390:C:T p.(Thr1551Ile) NC_000023.11:71134390:C:T p.(Thr1551Ile) NC_000023.11:71134390:C:T Identity +NM_001394062.1:c.17563C>A NP_001380991.1:p.Gln5855Lys NC_000001.11:39433152:C:A p.(Gln5855Lys) NC_000001.11:39433152:C:A p.(Gln5855Lys) NC_000001.11:39433152:C:A Identity +NM_032119.4:c.6711dup NP_115495.3:p.Gln2238fs NC_000005.10:90690797:TTTT:TTTTT p.(Gln2238SerfsTer4) NC_000005.10:90690797:TTTT:TTTTT p.(Gln2238SerfsTer4) ERR:SPDI Analogous +NM_001243564.2:c.755T>C NP_001230493.1:p.Leu252Pro NC_000001.11:26468985:T:C p.(Leu252Pro) NC_000001.11:26468985:T:C p.(Leu252Pro) NC_000001.11:26468985:T:C Identity +NM_007123.6:c.3905G>A NP_009054.6:p.Trp1302Ter NC_000001.11:216198490:C:T p.(Trp1302Ter) NC_000001.11:216198490:C:T p.(Trp1302Ter) NC_000001.11:216198490:C:T Identity +NM_012463.4:c.377_378del NP_036595.2:p.Ile126fs NC_000012.12:123724734:ATA:A p.(Ile126ArgfsTer18) NC_000012.12:123724734:ATA:A p.(Ile126ArgfsTer18) NC_000012.12:123724735:TA: Analogous +NM_001190799.2:c.489_508dup NP_001177728.1:p.Tyr170fs NC_000004.12:127885954:GTCCCTGGGCTGTATGTTTT:GTCCCTGGGCTGTATGTTTTGTCCCTGGGCTGTATGTTTT p.(Tyr170CysfsTer26) NC_000004.12:127885954:GTCCCTGGGCTGTATGTTTT:GTCCCTGGGCTGTATGTTTTGTCCCTGGGCTGTATGTTTT p.(Tyr170CysfsTer26) ERR:SPDI Analogous +NM_001347827.2:c.1232C>G NP_001334756.1:p.Thr411Ser NC_000004.12:54270742:C:G p.(Thr411Ser) NC_000004.12:54270742:C:G p.(Thr411Ser) NC_000004.12:54270742:C:G Identity +NM_172364.5:c.2081C>T NP_758952.4:p.Pro694Leu NC_000012.12:1856082:G:A p.(Pro694Leu) NC_000012.12:1856082:G:A p.(Pro694Leu) NC_000012.12:1856082:G:A Identity +NM_000521.4:c.1469dup NP_000512.2:p.Glu491fs NC_000005.10:74720475:GGGG:GGGGG p.(Glu491ArgfsTer7) NC_000005.10:74720475:GGGG:GGGGG p.(Glu491ArgfsTer7) ERR:SPDI Analogous +NM_001384158.1:c.1052G>C NP_001371087.1:p.Gly351Ala NC_000014.9:91881351:C:G p.(Gly351Ala) NC_000014.9:91881351:C:G p.(Gly351Ala) NC_000014.9:91881351:C:G Identity +NM_001165963.4:c.3971T>C NP_001159435.1:p.Leu1324Pro NC_000002.12:166009749:A:G p.(Leu1324Pro) NC_000002.12:166009749:A:G p.(Leu1324Pro) NC_000002.12:166009749:A:G Identity +NM_000264.5:c.391G>C NP_000255.2:p.Glu131Gln NC_000009.12:95506409:C:G p.(Glu131Gln) NC_000009.12:95506409:C:G p.(Glu131Gln) NC_000009.12:95506409:C:G Identity +NM_001151.4:c.58G>A NP_001142.2:p.Ala20Thr NC_000004.12:185143429:G:A p.(Ala20Thr) NC_000004.12:185143429:G:A p.(Ala20Thr) NC_000004.12:185143429:G:A Identity +NM_001271723.2:c.505C>T NP_001258652.1:p.Arg169Cys NC_000005.10:148402425:C:T p.(Arg169Cys) NC_000005.10:148402425:C:T p.(Arg169Cys) NC_000005.10:148402425:C:T Identity +NM_015180.6:c.16721A>G NP_055995.4:p.Gln5574Arg NC_000014.9:64167347:A:G p.(Gln5574Arg) NC_000014.9:64167347:A:G p.(Gln5574Arg) NC_000014.9:64167347:A:G Identity +NM_001271933.2:c.1505A>G NP_001258862.1:p.Glu502Gly NC_000011.10:117381786:A:G p.(Glu502Gly) NC_000011.10:117381786:A:G p.(Glu502Gly) NC_000011.10:117381786:A:G Identity +NM_001102406.2:c.3157C>T NP_001095876.1:p.His1053Tyr NC_000004.12:112435269:C:T p.(His1053Tyr) NC_000004.12:112435269:C:T p.(His1053Tyr) NC_000004.12:112435269:C:T Identity +NM_000489.6:c.2555A>G NP_000480.3:p.Asp852Gly NC_000023.11:77682700:T:C p.(Asp852Gly) NC_000023.11:77682700:T:C p.(Asp852Gly) NC_000023.11:77682700:T:C Identity +NM_001290307.3:c.1426C>T NP_001277236.1:p.Gln476Ter NC_000005.10:138917777:C:T p.(Gln476Ter) NC_000005.10:138917777:C:T p.(Gln476Ter) NC_000005.10:138917777:C:T Identity +NM_000071.3:c.1561del NP_000062.1:p.Thr521fs NC_000021.9:43053974:T: p.(Thr521ProfsTer20) NC_000021.9:43053974:T: p.(Thr521ProfsTer20) NC_000021.9:43053974:T: Analogous +NM_001406559.1:c.776T>G NP_001393488.1:p.Ile259Ser NC_000010.11:86917158:T:G p.(Ile259Ser) NC_000010.11:86917158:T:G p.(Ile259Ser) NC_000010.11:86917158:T:G Identity +NM_000350.3:c.1892G>A NP_000341.2:p.Gly631Glu NC_000001.11:94062621:C:T p.(Gly631Glu) NC_000001.11:94062621:C:T p.(Gly631Glu) NC_000001.11:94062621:C:T Identity +NM_000244.4:c.555T>A NP_000235.3:p.Asp185Glu NC_000011.10:64808004:A:T p.(Asp185Glu) NC_000011.10:64808004:A:T p.(Asp185Glu) NC_000011.10:64808004:A:T Identity +NM_017890.5:c.6034C>T NP_060360.3:p.Gln2012Ter NC_000008.11:99661403:C:T p.(Gln2012Ter) NC_000008.11:99661403:C:T p.(Gln2012Ter) NC_000008.11:99661403:C:T Identity +NM_000393.5:c.2711C>A NP_000384.2:p.Pro904Gln NC_000002.12:189052752:G:T p.(Pro904Gln) NC_000002.12:189052752:G:T p.(Pro904Gln) NC_000002.12:189052752:G:T Identity +NM_001363890.1:c.148A>G NP_001350819.1:p.Met50Val NC_000003.12:9893134:A:G p.(Met50Val) NC_000003.12:9893134:A:G p.(Met50Val) NC_000003.12:9893134:A:G Identity +NM_001166418.2:c.812T>C NP_001159890.1:p.Ile271Thr NC_000023.11:72351758:A:G p.(Ile271Thr) NC_000023.11:72351758:A:G p.(Ile271Thr) NC_000023.11:72351758:A:G Identity +NM_173648.4:c.4174A>T NP_775919.3:p.Ile1392Phe NC_000002.12:178837044:T:A p.(Ile1392Phe) NC_000002.12:178837044:T:A p.(Ile1392Phe) NC_000002.12:178837044:T:A Identity +NM_001211.6:c.1568G>T NP_001202.5:p.Gly523Val NC_000015.10:40202404:G:T p.(Gly523Val) NC_000015.10:40202404:G:T p.(Gly523Val) NC_000015.10:40202404:G:T Identity +NM_000362.5:c.53A>G NP_000353.1:p.Asp18Gly NC_000022.11:32802053:A:G p.(Asp18Gly) NC_000022.11:32802053:A:G p.(Asp18Gly) NC_000022.11:32802053:A:G Identity +NM_000936.4:c.745G>A NP_000927.1:p.Val249Met NC_000010.11:116555440:G:A p.(Val249Met) NC_000010.11:116555440:G:A p.(Val249Met) NC_000010.11:116555440:G:A Identity +NM_001366624.2:c.529G>T NP_001353553.1:p.Glu177Ter NC_000013.11:76996090:G:T p.(Glu177Ter) NC_000013.11:76996090:G:T p.(Glu177Ter) NC_000013.11:76996090:G:T Identity +NM_000833.5:c.861C>A NP_000824.1:p.Ser287Arg NC_000016.10:9938104:G:T p.(Ser287Arg) NC_000016.10:9938104:G:T p.(Ser287Arg) NC_000016.10:9938104:G:T Identity +NM_001126121.2:c.317T>C NP_001119593.1:p.Leu106Pro NC_000017.11:75283564:A:G p.(Leu106Pro) NC_000017.11:75283564:A:G p.(Leu106Pro) NC_000017.11:75283564:A:G Identity +NM_000535.7:c.2149G>C NP_000526.2:p.Val717Leu NC_000007.14:5982848:C:G p.(Val717Leu) NC_000007.14:5982848:C:G p.(Val717Leu) NC_000007.14:5982848:C:G Identity +NM_001081676.2:c.3410_3411delinsGC NP_001075145.1:p.Glu1137Gly NC_000002.12:165113926:TT:GC p.(Glu1137Gly) NC_000002.12:165113926:TT:GC p.(Glu1137Gly) NC_000002.12:165113926:TT:GC Identity +NM_000339.3:c.2030T>G NP_000330.3:p.Val677Gly NC_000016.10:56886467:T:G p.(Val677Gly) NC_000016.10:56886467:T:G p.(Val677Gly) NC_000016.10:56886467:T:G Identity +NM_001277115.2:c.8888C>G NP_001264044.1:p.Ser2963Cys NC_000007.14:21750311:C:G p.(Ser2963Cys) NC_000007.14:21750311:C:G p.(Ser2963Cys) NC_000007.14:21750311:C:G Identity +NM_001145527.2:c.103G>C NP_001138999.1:p.Asp35His NC_000009.12:137716642:G:C p.(Asp35His) NC_000009.12:137716642:G:C p.(Asp35His) NC_000009.12:137716642:G:C Identity +NM_000435.3:c.3926G>C NP_000426.2:p.Arg1309Pro NC_000019.10:15178001:C:G p.(Arg1309Pro) NC_000019.10:15178001:C:G p.(Arg1309Pro) NC_000019.10:15178001:C:G Identity +NM_000038.6:c.2302C>T NP_000029.2:p.His768Tyr NC_000005.10:112837895:C:T p.(His768Tyr) NC_000005.10:112837895:C:T p.(His768Tyr) NC_000005.10:112837895:C:T Identity +NM_001032221.6:c.1107G>T NP_001027392.1:p.Glu369Asp NC_000009.12:127673257:G:T p.(Glu369Asp) NC_000009.12:127673257:G:T p.(Glu369Asp) NC_000009.12:127673257:G:T Identity +NM_000271.5:c.65C>G NP_000262.2:p.Ser22Ter NC_000018.10:23573566:G:C p.(Ser22Ter) NC_000018.10:23573566:G:C p.(Ser22Ter) NC_000018.10:23573566:G:C Identity +NM_000038.6:c.6707T>C NP_000029.2:p.Val2236Ala NC_000005.10:112842300:T:C p.(Val2236Ala) NC_000005.10:112842300:T:C p.(Val2236Ala) NC_000005.10:112842300:T:C Identity +LRG_176t1:c.3369dup LRG_176p1:p.Met1124Aspfs NC_000008.11:60824006:G:GG ERR:Data provider error: ValueError: Transcript LRG_176t1 not found ERR:Data provider error: ValueError: Transcript LRG_176t1 not found ERR:AlignmentMapper(tx_ac=LRG_176t1, alt_ac=LRG_176t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_176t1, alt_ac=LRG_176t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_176t1 not found +NM_000059.4:c.8488T>C NP_000050.3:p.Trp2830Arg NC_000013.11:32370955:T:C p.(Trp2830Arg) NC_000013.11:32370955:T:C p.(Trp2830Arg) NC_000013.11:32370955:T:C Identity +NM_173689.7:c.1186C>T NP_775960.4:p.Gln396Ter NC_000009.12:123370238:C:T p.(Gln396Ter) NC_000009.12:123370238:C:T p.(Gln396Ter) NC_000009.12:123370238:C:T Identity +NM_001363711.2:c.2552del NP_001350640.1:p.Phe851fs NC_000015.10:45104147:AA:A p.(Phe851SerfsTer2) NC_000015.10:45104147:AA:A p.(Phe851SerfsTer2) NC_000015.10:45104147:A: Analogous +NM_001184900.3:c.704T>C NP_001171829.1:p.Phe235Ser NC_000019.10:48230844:A:G p.(Phe235Ser) NC_000019.10:48230844:A:G p.(Phe235Ser) NC_000019.10:48230844:A:G Identity +NM_006231.4:c.6020del NP_006222.2:p.Val2007fs NC_000012.12:132632779:A: p.(Val2007GlyfsTer5) NC_000012.12:132632779:A: p.(Val2007GlyfsTer5) NC_000012.12:132632779:A: Analogous +NM_001126054.3:c.2129A>C NP_001119526.1:p.Lys710Thr NC_000023.11:41534915:T:G p.(Lys710Thr) NC_000023.11:41534915:T:G p.(Lys710Thr) NC_000023.11:41534915:T:G Identity +NM_000088.4:c.977del NP_000079.2:p.Gly326fs NC_000017.11:50196179:CC:C p.(Gly326ValfsTer215) NC_000017.11:50196179:CC:C p.(Gly326ValfsTer215) NC_000017.11:50196179:C: Analogous +NM_001164507.2:c.3179G>A NP_001157979.2:p.Ser1060Asn NC_000002.12:151679796:C:T p.(Ser1060Asn) NC_000002.12:151679796:C:T p.(Ser1060Asn) NC_000002.12:151679796:C:T Identity +NM_000215.4:c.2842C>G NP_000206.2:p.Arg948Gly NC_000019.10:17831363:G:C p.(Arg948Gly) NC_000019.10:17831363:G:C p.(Arg948Gly) NC_000019.10:17831363:G:C Identity +NM_000527.5:c.1656del NP_000518.1:p.Tyr553fs NC_000019.10:11116162:C: p.(Tyr553ThrfsTer4) NC_000019.10:11116162:C: p.(Tyr553ThrfsTer4) NC_000019.10:11116162:C: Analogous +NM_001999.4:c.2813A>G NP_001990.2:p.Asp938Gly NC_000005.10:128350004:T:C p.(Asp938Gly) NC_000005.10:128350004:T:C p.(Asp938Gly) NC_000005.10:128350004:T:C Identity +NM_001362843.2:c.1814dup NP_001349772.1:p.Met605fs NC_000022.11:41140192:T:TT p.(Met605IlefsTer12) NC_000022.11:41140192:T:TT p.(Met605IlefsTer12) ERR:SPDI Analogous +NM_000264.5:c.665A>C NP_000255.2:p.Tyr222Ser NC_000009.12:95482029:T:G p.(Tyr222Ser) NC_000009.12:95482029:T:G p.(Tyr222Ser) NC_000009.12:95482029:T:G Identity +NM_001407296.1:c.2786G>C NP_001394225.1:p.Cys929Ser NC_000016.10:23623118:C:G p.(Cys929Ser) NC_000016.10:23623118:C:G p.(Cys929Ser) NC_000016.10:23623118:C:G Identity +NM_001378120.1:c.4387A>G NP_001365049.1:p.Arg1463Gly NC_000002.12:148490018:A:G p.(Arg1463Gly) NC_000002.12:148490018:A:G p.(Arg1463Gly) NC_000002.12:148490018:A:G Identity +NM_000038.6:c.4901C>A NP_000029.2:p.Pro1634Gln NC_000005.10:112840494:C:A p.(Pro1634Gln) NC_000005.10:112840494:C:A p.(Pro1634Gln) NC_000005.10:112840494:C:A Identity +NM_001048171.2:c.1466G>C NP_001041636.2:p.Cys489Ser NC_000001.11:45329405:C:G p.(Cys489Ser) NC_000001.11:45329405:C:G p.(Cys489Ser) NC_000001.11:45329405:C:G Identity +NM_004655.4:c.1730C>G NP_004646.3:p.Thr577Ser NC_000017.11:65537045:G:C p.(Thr577Ser) NC_000017.11:65537045:G:C p.(Thr577Ser) NC_000017.11:65537045:G:C Identity +NM_001408.3:c.1193A>G NP_001399.1:p.Gln398Arg NC_000001.11:109251271:A:G p.(Gln398Arg) NC_000001.11:109251271:A:G p.(Gln398Arg) NC_000001.11:109251271:A:G Identity +NM_000302.4:c.1811dup NP_000293.2:p.Asn604fs NC_000001.11:11970723:AA:AAA p.(Asn604LysfsTer6) NC_000001.11:11970723:AA:AAA p.(Asn604LysfsTer6) ERR:SPDI Analogous +NM_001004334.4:c.3962G>T NP_001004334.3:p.Cys1321Phe NC_000017.11:38329606:C:A p.(Cys1321Phe) NC_000017.11:38329606:C:A p.(Cys1321Phe) NC_000017.11:38329606:C:A Identity +NM_001257374.3:c.450G>A NP_001244303.1:p.Glu150= NC_000001.11:156134950:G:A p.(Glu150=) NC_000001.11:156134950:G:A p.(Glu150=) NC_000001.11:156134950:G:A Identity +NM_001301237.2:c.930A>C NP_001288166.1:p.Lys310Asn NC_000001.11:41008662:A:C p.(Lys310Asn) NC_000001.11:41008662:A:C p.(Lys310Asn) NC_000001.11:41008662:A:C Identity +NM_001362949.2:c.171del NP_001349878.1:p.Ser58fs NC_000022.11:33650603:GG:G p.(Ser58AlafsTer165) NC_000022.11:33650603:GG:G p.(Ser58AlafsTer165) NC_000022.11:33650603:G: Analogous +NM_001354263.2:c.3192C>A NP_001341192.1:p.Ser1064Arg NC_000009.12:137814462:C:A p.(Ser1064Arg) NC_000009.12:137814462:C:A p.(Ser1064Arg) NC_000009.12:137814462:C:A Identity +NM_001190274.2:c.2246A>C NP_001177203.1:p.Asp749Ala NC_000002.12:47810407:T:G p.(Asp749Ala) NC_000002.12:47810407:T:G p.(Asp749Ala) NC_000002.12:47810407:T:G Identity +NM_001291415.2:c.3277T>G NP_001278344.1:p.Ser1093Ala NC_000023.11:45079327:T:G p.(Ser1093Ala) NC_000023.11:45079327:T:G p.(Ser1093Ala) NC_000023.11:45079327:T:G Identity +NM_001308133.2:c.476G>C NP_001295062.1:p.Gly159Ala NC_000014.9:45136506:G:C p.(Gly159Ala) NC_000014.9:45136506:G:C p.(Gly159Ala) NC_000014.9:45136506:G:C Identity +NM_001042780.3:c.11A>T NP_001036245.1:p.Glu4Val NC_000011.10:1922884:A:T p.(Glu4Val) NC_000011.10:1922884:A:T p.(Glu4Val) NC_000011.10:1922884:A:T Identity +NM_001379200.1:c.1309G>T NP_001366129.1:p.Gly437Trp NC_000022.11:19766660:G:T p.(Gly437Trp) NC_000022.11:19766660:G:T p.(Gly437Trp) NC_000022.11:19766660:G:T Identity +NM_000335.5:c.1951G>T NP_000326.2:p.Asp651Tyr NC_000003.12:38598989:C:A p.(Asp651Tyr) NC_000003.12:38598989:C:A p.(Asp651Tyr) NC_000003.12:38598989:C:A Identity +NM_001142800.2:c.6066T>G NP_001136272.1:p.His2022Gln NC_000006.12:64388701:A:C p.(His2022Gln) NC_000006.12:64388701:A:C p.(His2022Gln) NC_000006.12:64388701:A:C Identity +NM_001231.5:c.514del NP_001222.3:p.Ala172fs NC_000001.11:160195058:GG:G p.(Ala172ArgfsTer51) NC_000001.11:160195058:GG:G p.(Ala172ArgfsTer51) NC_000001.11:160195059:G: Analogous +NM_001258206.2:c.415G>A NP_001245135.1:p.Glu139Lys NC_000019.10:6821824:G:A p.(Glu139Lys) NC_000019.10:6821824:G:A p.(Glu139Lys) NC_000019.10:6821824:G:A Identity +NM_001321309.2:c.2544dup NP_001308238.1:p.Pro849fs NC_000003.12:123700395:TTT:TTTT p.(Pro849ThrfsTer9) NC_000003.12:123700395:TTT:TTTT p.(Pro849ThrfsTer9) ERR:SPDI Analogous +NM_001164507.2:c.7900del NP_001157979.2:p.Leu2634fs NC_000002.12:151643873:GG:G p.(Leu2634CysfsTer29) NC_000002.12:151643873:GG:G p.(Leu2634CysfsTer29) NC_000002.12:151643873:G: Analogous +NM_001413037.1:c.2033G>A NP_001399966.1:p.Ser678Asn NC_000008.11:144512143:C:T p.(Ser678Asn) NC_000008.11:144512143:C:T p.(Ser678Asn) NC_000008.11:144512143:C:T Identity +NM_001079821.3:c.865G>T NP_001073289.2:p.Val289Leu NC_000001.11:247424313:G:T p.(Val289Leu) NC_000001.11:247424313:G:T p.(Val289Leu) NC_000001.11:247424313:G:T Identity +NM_000030.3:c.529A>T NP_000021.1:p.Lys177Ter NC_000002.12:240872982:A:T p.(Lys177Ter) NC_000002.12:240872982:A:T p.(Lys177Ter) NC_000002.12:240872982:A:T Identity +NM_001024688.3:c.144A>C NP_001019859.1:p.Gln48His NC_000008.11:89980823:T:G p.(Gln48His) NC_000008.11:89980823:T:G p.(Gln48His) NC_000008.11:89980823:T:G Identity +NM_000426.4:c.561del NP_000417.3:p.Pro188fs NC_000006.12:129098334:GGG:GG p.(Pro188HisfsTer22) NC_000006.12:129098334:GGG:GG p.(Pro188HisfsTer22) NC_000006.12:129098336:G: Analogous +NM_000346.4:c.1525C>T NP_000337.1:p.Pro509Ser NC_000017.11:72124381:C:T p.(Pro509Ser) NC_000017.11:72124381:C:T p.(Pro509Ser) NC_000017.11:72124381:C:T Identity +NM_001197104.2:c.2324_2325del NP_001184033.1:p.Ser775fs NC_000011.10:118473481:TCT:T p.(Ser775CysfsTer10) NC_000011.10:118473481:TCT:T p.(Ser775CysfsTer10) NC_000011.10:118473482:CT: Analogous +NM_006059.4:c.2096dup NP_006050.3:p.Pro700fs NC_000009.12:131057079:GGGGGG:GGGGGGG p.(Pro700SerfsTer11) NC_000009.12:131057079:GGGGGG:GGGGGGG p.(Pro700SerfsTer11) ERR:SPDI Analogous +NM_015180.6:c.16385C>T NP_055995.4:p.Ser5462Phe NC_000014.9:64163486:C:T p.(Ser5462Phe) NC_000014.9:64163486:C:T p.(Ser5462Phe) NC_000014.9:64163486:C:T Identity +NM_000249.4:c.30del NP_000240.1:p.Leu11fs NC_000003.12:36993575:GG:G p.(Leu11TrpfsTer6) NC_000003.12:36993575:GG:G p.(Leu11TrpfsTer6) NC_000003.12:36993576:G: Analogous +NM_001100112.2:c.2620G>T NP_001093582.1:p.Ala874Ser NC_000017.11:10531709:C:A p.(Ala874Ser) NC_000017.11:10531709:C:A p.(Ala874Ser) NC_000017.11:10531709:C:A Identity +NM_001411065.1:c.548C>G NP_001397994.1:p.Ser183Trp NC_000015.10:66481877:C:G p.(Ser183Trp) NC_000015.10:66481877:C:G p.(Ser183Trp) NC_000015.10:66481877:C:G Identity +NM_001130066.2:c.3263C>T NP_001123538.1:p.Ala1088Val NC_000006.12:33443856:C:T p.(Ala1088Val) NC_000006.12:33443856:C:T p.(Ala1088Val) NC_000006.12:33443856:C:T Identity +NM_001112741.2:c.1268C>T NP_001106212.1:p.Ala423Val NC_000011.10:17772361:C:T p.(Ala423Val) NC_000011.10:17772361:C:T p.(Ala423Val) NC_000011.10:17772361:C:T Identity +NM_001407296.1:c.1019A>C NP_001394225.1:p.Asp340Ala NC_000016.10:23635466:T:G p.(Asp340Ala) NC_000016.10:23635466:T:G p.(Asp340Ala) NC_000016.10:23635466:T:G Identity +NM_001126131.2:c.1976A>G NP_001119603.1:p.His659Arg NC_000015.10:89324200:T:C p.(His659Arg) NC_000015.10:89324200:T:C p.(His659Arg) NC_000015.10:89324200:T:C Identity +NM_000540.3:c.5282G>A NP_000531.2:p.Gly1761Asp NC_000019.10:38485936:G:A p.(Gly1761Asp) NC_000019.10:38485936:G:A p.(Gly1761Asp) NC_000019.10:38485936:G:A Identity +NM_001168249.1:c.251delC NP_001161721.1:p.Pro85Glnfs NC_000001.11:103082824:GGGG:GGG ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001171930.2:c.3103dup NP_001165401.1:p.Thr1035fs NC_000010.11:71707045:A:AA p.(Thr1035AsnfsTer63) NC_000010.11:71707045:A:AA p.(Thr1035AsnfsTer63) ERR:SPDI Analogous +NM_003718.5:c.772C>G NP_003709.3:p.Arg258Gly NC_000007.14:39951412:C:G p.(Arg258Gly) NC_000007.14:39951412:C:G p.(Arg258Gly) NC_000007.14:39951412:C:G Identity +NM_001258205.2:c.652G>A NP_001245134.1:p.Ala218Thr NC_000017.11:3535704:C:T p.(Ala218Thr) NC_000017.11:3535704:C:T p.(Ala218Thr) NC_000017.11:3535704:C:T Identity +NM_000038.6:c.7233T>G NP_000029.2:p.Asn2411Lys NC_000005.10:112842826:T:G p.(Asn2411Lys) NC_000005.10:112842826:T:G p.(Asn2411Lys) NC_000005.10:112842826:T:G Identity +NM_001164317.2:c.553G>C NP_001157789.1:p.Asp185His NC_000003.12:58078727:G:C p.(Asp185His) NC_000003.12:58078727:G:C p.(Asp185His) NC_000003.12:58078727:G:C Identity +NM_001692.4:c.112dup NP_001683.2:p.Arg38fs NC_000002.12:70936061:CCCCC:CCCCCC p.(Arg38ProfsTer45) NC_000002.12:70936061:CCCCC:CCCCCC p.(Arg38ProfsTer45) ERR:SPDI Analogous +NM_001362949.2:c.1671del NP_001349878.1:p.Tyr558fs NC_000022.11:33304287:GGG:GG p.(Tyr558ThrfsTer35) NC_000022.11:33304287:GGG:GG p.(Tyr558ThrfsTer35) NC_000022.11:33304287:G: Analogous +NM_001256849.1:c.547_550dup NP_001243778.1:p.Gly184fs NC_000019.10:50402078:CTGACTG:CTGACTGACTG p.(Gly184AspfsTer69) NC_000019.10:50402078:CTGACTG:CTGACTGACTG p.(Gly184AspfsTer69) ERR:SPDI Analogous +NM_000074.3:c.518C>T NP_000065.1:p.Ala173Val NC_000023.11:136659146:C:T p.(Ala173Val) NC_000023.11:136659146:C:T p.(Ala173Val) NC_000023.11:136659146:C:T Identity +NM_001127671.2:c.397del NP_001121143.1:p.Ser133fs NC_000005.10:38527154:AAA:AA p.(Ser133ProfsTer2) NC_000005.10:38527154:AAA:AA p.(Ser133ProfsTer2) NC_000005.10:38527154:A: Analogous +LRG_494t1:c.595C>T LRG_494p1:p.Arg199Cys NC_000011.10:44108207:C:T ERR:Data provider error: ValueError: Transcript LRG_494t1 not found ERR:Data provider error: ValueError: Transcript LRG_494t1 not found ERR:AlignmentMapper(tx_ac=LRG_494t1, alt_ac=LRG_494t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_494t1, alt_ac=LRG_494t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_494t1 not found +NM_000260.4:c.4028G>A NP_000251.3:p.Arg1343Lys NC_000011.10:77192153:G:A p.(Arg1343Lys) NC_000011.10:77192153:G:A p.(Arg1343Lys) NC_000011.10:77192153:G:A Identity +LRG_989t1:c.1045del LRG_989p1:p.Thr349fs NC_000022.11:20992264:A: ERR:Data provider error: ValueError: Transcript LRG_989t1 not found ERR:Data provider error: ValueError: Transcript LRG_989t1 not found ERR:AlignmentMapper(tx_ac=LRG_989t1, alt_ac=LRG_989t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_989t1, alt_ac=LRG_989t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_989t1 not found +LRG_80t1:c.355C>T LRG_80p1:p.His119Tyr NC_000009.12:128907518:C:T ERR:Data provider error: ValueError: Transcript LRG_80t1 not found ERR:Data provider error: ValueError: Transcript LRG_80t1 not found ERR:AlignmentMapper(tx_ac=LRG_80t1, alt_ac=LRG_80t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_80t1, alt_ac=LRG_80t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_80t1 not found +NM_001165963.4:c.313A>T NP_001159435.1:p.Thr105Ser NC_000002.12:166058639:T:A p.(Thr105Ser) NC_000002.12:166058639:T:A p.(Thr105Ser) NC_000002.12:166058639:T:A Identity +NM_001348081.2:c.1031G>A NP_001335010.1:p.Arg344Lys NC_000008.11:13401611:C:T p.(Arg344Lys) NC_000008.11:13401611:C:T p.(Arg344Lys) NC_000008.11:13401611:C:T Identity +NM_001114980.2:c.1435A>G NP_001108452.1:p.Ile479Val NC_000003.12:189890852:A:G p.(Ile479Val) NC_000003.12:189890852:A:G p.(Ile479Val) NC_000003.12:189890852:A:G Identity +NM_001166292.2:c.406C>T NP_001159764.1:p.Leu136Phe NC_000001.11:44832200:G:A p.(Leu136Phe) NC_000001.11:44832200:G:A p.(Leu136Phe) NC_000001.11:44832200:G:A Identity +NM_001193416.3:c.226_228del NP_001180345.1:p.Ser76del NC_000023.11:41341555:GTAGT:GT p.(Ser76del) NC_000023.11:41341555:GTAGT:GT p.(Ser76del) NC_000023.11:41341557:AGT: Identity +NM_001407296.1:c.1263A>T NP_001394225.1:p.Lys421Asn NC_000016.10:23635222:T:A p.(Lys421Asn) NC_000016.10:23635222:T:A p.(Lys421Asn) NC_000016.10:23635222:T:A Identity +NM_000546.6:c.492G>T NP_000537.3:p.Lys164Asn NC_000017.11:7675119:C:A p.(Lys164Asn) NC_000017.11:7675119:C:A p.(Lys164Asn) NC_000017.11:7675119:C:A Identity +NM_024685.4:c.575A>C NP_078961.3:p.Gln192Pro NC_000012.12:76347409:T:G p.(Gln192Pro) NC_000012.12:76347409:T:G p.(Gln192Pro) NC_000012.12:76347409:T:G Identity +NM_001220.5:c.1150A>G NP_001211.3:p.Ile384Val NC_000007.14:44232847:T:C p.(Ile384Val) NC_000007.14:44232847:T:C p.(Ile384Val) NC_000007.14:44232847:T:C Identity +NM_001305242.2:c.288G>T NP_001292171.1:p.Met96Ile NC_000001.11:95064865:C:A p.(Met96Ile) NC_000001.11:95064865:C:A p.(Met96Ile) NC_000001.11:95064865:C:A Identity +NM_001290307.3:c.1630G>A NP_001277236.1:p.Ala544Thr NC_000005.10:138924592:G:A p.(Ala544Thr) NC_000005.10:138924592:G:A p.(Ala544Thr) NC_000005.10:138924592:G:A Identity +NM_001130144.3:c.776T>C NP_001123616.1:p.Leu259Pro NC_000011.10:65553788:A:G p.(Leu259Pro) NC_000011.10:65553788:A:G p.(Leu259Pro) NC_000011.10:65553788:A:G Identity +NM_005515.4:c.124G>C NP_005506.3:p.Gly42Arg NC_000007.14:157010226:C:G p.(Gly42Arg) NC_000007.14:157010226:C:G p.(Gly42Arg) NC_000007.14:157010226:C:G Identity +NM_001193304.3:c.605A>G NP_001180233.1:p.Glu202Gly NC_000002.12:96253919:T:C p.(Glu202Gly) NC_000002.12:96253919:T:C p.(Glu202Gly) NC_000002.12:96253919:T:C Identity +NM_001414244.1:c.1930C>T NP_001401173.1:p.Arg644Ter NC_000012.12:12164394:G:A p.(Arg644Ter) NC_000012.12:12164394:G:A p.(Arg644Ter) NC_000012.12:12164394:G:A Identity +NM_001164317.2:c.3884C>T NP_001157789.1:p.Thr1295Ile NC_000003.12:58124490:C:T p.(Thr1295Ile) NC_000003.12:58124490:C:T p.(Thr1295Ile) NC_000003.12:58124490:C:T Identity +NM_001098268.2:c.2427dup NP_001091738.1:p.Leu810fs NC_000013.11:108208841:A:AA p.(Leu810SerfsTer18) NC_000013.11:108208841:A:AA p.(Leu810SerfsTer18) ERR:SPDI Analogous +NM_138348.6:c.1015C>T NP_612357.4:p.His339Tyr NC_000005.10:14693003:C:T p.(His339Tyr) NC_000005.10:14693003:C:T p.(His339Tyr) NC_000005.10:14693003:C:T Identity +NM_001145527.2:c.872G>C NP_001138999.1:p.Arg291Pro NC_000009.12:137743418:G:C p.(Arg291Pro) NC_000009.12:137743418:G:C p.(Arg291Pro) NC_000009.12:137743418:G:C Identity +NM_006393.3:c.1943dup NP_006384.1:p.Asn648fs NC_000010.11:20823226:TTTT:TTTTT p.(Asn648LysfsTer11) NC_000010.11:20823226:TTTT:TTTTT p.(Asn648LysfsTer11) ERR:SPDI Analogous +NM_001001890.3:c.833G>T NP_001001890.1:p.Gly278Val NC_000021.9:34799353:C:A p.(Gly278Val) NC_000021.9:34799353:C:A p.(Gly278Val) NC_000021.9:34799353:C:A Identity +NM_000260.4:c.5208del NP_000251.3:p.Lys1737fs NC_000011.10:77203097:CC:C p.(Lys1737ArgfsTer68) NC_000011.10:77203097:CC:C p.(Lys1737ArgfsTer68) NC_000011.10:77203098:C: Analogous +NM_031935.3:c.16531C>A NP_114141.2:p.Pro5511Thr NC_000001.11:186187998:C:A p.(Pro5511Thr) NC_000001.11:186187998:C:A p.(Pro5511Thr) NC_000001.11:186187998:C:A Identity +NM_015384.5:c.4100G>C NP_056199.2:p.Ser1367Thr NC_000005.10:37007334:G:C p.(Ser1367Thr) NC_000005.10:37007334:G:C p.(Ser1367Thr) NC_000005.10:37007334:G:C Identity +NM_173354.5:c.692C>A NP_775490.2:p.Thr231Lys NC_000021.9:43421065:G:T p.(Thr231Lys) NC_000021.9:43421065:G:T p.(Thr231Lys) NC_000021.9:43421065:G:T Identity +NM_001315529.2:c.1113del NP_001302458.1:p.Glu371fs NC_000021.9:46353113:G: p.(Glu371AspfsTer13) NC_000021.9:46353113:G: p.(Glu371AspfsTer13) NC_000021.9:46353113:G: Analogous +NM_001165963.4:c.3110C>A NP_001159435.1:p.Ser1037Tyr NC_000002.12:166036366:G:T p.(Ser1037Tyr) NC_000002.12:166036366:G:T p.(Ser1037Tyr) NC_000002.12:166036366:G:T Identity +NM_000380.4:c.712G>T NP_000371.1:p.Glu238Ter NC_000009.12:97675548:C:A p.(Glu238Ter) NC_000009.12:97675548:C:A p.(Glu238Ter) NC_000009.12:97675548:C:A Identity +NM_000264.5:c.3885del NP_000255.2:p.Gly1296fs NC_000009.12:95447370:GGG:GG p.(Gly1296AspfsTer76) NC_000009.12:95447370:GGG:GG p.(Gly1296AspfsTer76) NC_000009.12:95447370:G: Analogous +NM_000419.5:c.1670C>G NP_000410.2:p.Ser557Cys NC_000017.11:44380083:G:C p.(Ser557Cys) NC_000017.11:44380083:G:C p.(Ser557Cys) NC_000017.11:44380083:G:C Identity +NM_024408.4:c.4810_4811del NP_077719.2:p.Arg1604fs NC_000001.11:119923684:CTCT:CT p.(Arg1604AspfsTer9) NC_000001.11:119923684:CTCT:CT p.(Arg1604AspfsTer9) NC_000001.11:119923684:CT: Analogous +NM_000109.4:c.6596A>G NP_000100.3:p.Glu2199Gly NC_000023.11:31932221:T:C p.(Glu2199Gly) NC_000023.11:31932221:T:C p.(Glu2199Gly) NC_000023.11:31932221:T:C Identity +NM_030662.4:c.674A>T NP_109587.1:p.Asn225Ile NC_000019.10:4101049:T:A p.(Asn225Ile) NC_000019.10:4101049:T:A p.(Asn225Ile) NC_000019.10:4101049:T:A Identity +NM_001320923.2:c.359A>G NP_001307852.1:p.Asn120Ser NC_000001.11:64873493:T:C p.(Asn120Ser) NC_000001.11:64873493:T:C p.(Asn120Ser) NC_000001.11:64873493:T:C Identity +NM_001164507.2:c.1459C>T NP_001157979.2:p.Gln487Ter NC_000002.12:151697158:G:A p.(Gln487Ter) NC_000002.12:151697158:G:A p.(Gln487Ter) NC_000002.12:151697158:G:A Identity +NM_001466.4:c.791C>G NP_001457.1:p.Thr264Ser NC_000017.11:44558478:C:G p.(Thr264Ser) NC_000017.11:44558478:C:G p.(Thr264Ser) NC_000017.11:44558478:C:G Identity +NM_001348250.2:c.1711G>A NP_001335179.1:p.Val571Ile NC_000003.12:11036876:G:A p.(Val571Ile) NC_000003.12:11036876:G:A p.(Val571Ile) NC_000003.12:11036876:G:A Identity +NM_199242.3:c.2724dup NP_954712.1:p.Glu909Ter NC_000017.11:75830467:A:AA p.(Glu909Ter) NC_000017.11:75830467:A:AA p.(Glu909Ter) ERR:SPDI Identity +NM_000540.3:c.8227del NP_000531.2:p.Leu2743fs NC_000019.10:38504904:CCC:CC p.(Leu2743SerfsTer3) NC_000019.10:38504904:CCC:CC p.(Leu2743SerfsTer3) NC_000019.10:38504906:C: Analogous +NM_001310332.2:c.2393A>G NP_001297261.1:p.Asn798Ser NC_000014.9:24158145:A:G p.(Asn798Ser) NC_000014.9:24158145:A:G p.(Asn798Ser) NC_000014.9:24158145:A:G Identity +NM_001113178.3:c.4630T>A NP_001106649.1:p.Leu1544Met NC_000016.10:69695353:T:A p.(Leu1544Met) NC_000016.10:69695353:T:A p.(Leu1544Met) NC_000016.10:69695353:T:A Identity +NM_001425212.1:c.1300C>G NP_001412141.1:p.His434Asp NC_000014.9:50247149:G:C p.(His434Asp) NC_000014.9:50247149:G:C p.(His434Asp) NC_000014.9:50247149:G:C Identity +NM_001303496.3:c.1355T>G NP_001290425.1:p.Ile452Ser NC_000007.14:93134616:A:C p.(Ile452Ser) NC_000007.14:93134616:A:C p.(Ile452Ser) NC_000007.14:93134616:A:C Identity +NM_000064.4:c.1339A>G NP_000055.2:p.Ser447Gly NC_000019.10:6711126:T:C p.(Ser447Gly) NC_000019.10:6711126:T:C p.(Ser447Gly) NC_000019.10:6711126:T:C Identity +NM_024747.6:c.1403dup NP_079023.2:p.Lys469fs NC_000010.11:102066876:T:TT p.(Lys469GlufsTer9) NC_000010.11:102066876:T:TT p.(Lys469GlufsTer9) ERR:SPDI Analogous +NM_000748.3:c.1096C>T NP_000739.1:p.Arg366Cys NC_000001.11:154571918:C:T p.(Arg366Cys) NC_000001.11:154571918:C:T p.(Arg366Cys) NC_000001.11:154571918:C:T Identity +NM_001407103.1:c.234_235dup NP_001394032.1:p.His79fs NC_000014.9:65077972:GG:GGGG p.(His79ProfsTer52) NC_000014.9:65077972:GG:GGGG p.(His79ProfsTer52) ERR:SPDI Analogous +NM_000075.4:c.128G>C NP_000066.1:p.Gly43Ala NC_000012.12:57751589:C:G p.(Gly43Ala) NC_000012.12:57751589:C:G p.(Gly43Ala) NC_000012.12:57751589:C:G Identity +NM_000245.4:c.3584T>A NP_000236.2:p.Leu1195His NC_000007.14:116782048:T:A p.(Leu1195His) NC_000007.14:116782048:T:A p.(Leu1195His) NC_000007.14:116782048:T:A Identity +NM_016350.5:c.1768G>A NP_057434.4:p.Glu590Lys NC_000014.9:50763831:C:T p.(Glu590Lys) NC_000014.9:50763831:C:T p.(Glu590Lys) NC_000014.9:50763831:C:T Identity +NM_020338.4:c.473A>G NP_065071.1:p.Asn158Ser NC_000010.11:79289821:A:G p.(Asn158Ser) NC_000010.11:79289821:A:G p.(Asn158Ser) NC_000010.11:79289821:A:G Identity +NM_000151.4:c.471G>A NP_000142.2:p.Leu157= NC_000017.11:42909326:G:A p.(Leu157=) NC_000017.11:42909326:G:A p.(Leu157=) NC_000017.11:42909326:G:A Identity +NM_001114377.2:c.313G>C NP_001107849.1:p.Val105Leu NC_000023.11:49257462:C:G p.(Val105Leu) NC_000023.11:49257462:C:G p.(Val105Leu) NC_000023.11:49257462:C:G Identity +NM_001166110.2:c.404A>C NP_001159582.1:p.His135Pro NC_000004.12:168878294:A:C p.(His135Pro) NC_000004.12:168878294:A:C p.(His135Pro) NC_000004.12:168878294:A:C Identity +NM_001105243.2:c.1412A>G NP_001098713.1:p.Tyr471Cys NC_000023.11:100407185:T:C p.(Tyr471Cys) NC_000023.11:100407185:T:C p.(Tyr471Cys) NC_000023.11:100407185:T:C Identity +NM_017617.5:c.4412C>A NP_060087.3:p.Ala1471Glu NC_000009.12:136505483:G:T p.(Ala1471Glu) NC_000009.12:136505483:G:T p.(Ala1471Glu) NC_000009.12:136505483:G:T Identity +NM_001257180.2:c.486T>G NP_001244109.1:p.Phe162Leu NC_000008.11:42463034:A:C p.(Phe162Leu) NC_000008.11:42463034:A:C p.(Phe162Leu) NC_000008.11:42463034:A:C Identity +NM_006231.4:c.4704C>G NP_006222.2:p.Ile1568Met NC_000012.12:132642843:G:C p.(Ile1568Met) NC_000012.12:132642843:G:C p.(Ile1568Met) NC_000012.12:132642843:G:C Identity +NM_006231.4:c.5568C>G NP_006222.2:p.Phe1856Leu NC_000012.12:132638123:G:C p.(Phe1856Leu) NC_000012.12:132638123:G:C p.(Phe1856Leu) NC_000012.12:132638123:G:C Identity +NM_003482.4:c.6126C>G NP_003473.3:p.Cys2042Trp NC_000012.12:49041973:G:C p.(Cys2042Trp) NC_000012.12:49041973:G:C p.(Cys2042Trp) NC_000012.12:49041973:G:C Identity +NM_001007099.3:c.394del NP_001007100.1:p.Gln132fs NC_000001.11:53050665:C: p.(Gln132LysfsTer39) NC_000001.11:53050665:C: p.(Gln132LysfsTer39) NC_000001.11:53050665:C: Analogous +NM_005921.2:c.2012C>T NP_005912.1:p.Ala671Val NC_000005.10:56879025:C:T p.(Ala671Val) NC_000005.10:56879025:C:T p.(Ala671Val) NC_000005.10:56879025:C:T Identity +NM_003276.2:c.709G>T NP_003267.1:p.Glu237Ter NC_000012.12:98532965:G:T p.(Glu237Ter) NC_000012.12:98532965:G:T p.(Glu237Ter) NC_000012.12:98532965:G:T Identity +NM_032444.4:c.4791G>C NP_115820.2:p.Glu1597Asp NC_000016.10:3583458:C:G p.(Glu1597Asp) NC_000016.10:3583458:C:G p.(Glu1597Asp) NC_000016.10:3583458:C:G Identity +NM_001844.5:c.3968dup NP_001835.3:p.Cys1323fs NC_000012.12:47974780:C:CC p.(Cys1323TrpfsTer42) NC_000012.12:47974780:C:CC p.(Cys1323TrpfsTer42) ERR:SPDI Analogous +NM_000252.3:c.1627C>A NP_000243.1:p.Pro543Thr NC_000023.11:150663591:C:A p.(Pro543Thr) NC_000023.11:150663591:C:A p.(Pro543Thr) NC_000023.11:150663591:C:A Identity +NM_145290.4:c.71T>C NP_660333.2:p.Leu24Pro NC_000004.12:22515713:A:G p.(Leu24Pro) NC_000004.12:22515713:A:G p.(Leu24Pro) NC_000004.12:22515713:A:G Identity +NM_000214.3:c.395A>C NP_000205.1:p.Tyr132Ser NC_000020.11:10664006:T:G p.(Tyr132Ser) NC_000020.11:10664006:T:G p.(Tyr132Ser) NC_000020.11:10664006:T:G Identity +NM_032409.3:c.668A>T NP_115785.1:p.Asn223Ile NC_000001.11:20638121:A:T p.(Asn223Ile) NC_000001.11:20638121:A:T p.(Asn223Ile) NC_000001.11:20638121:A:T Identity +NM_000444.6:c.1928dup NP_000435.3:p.Asn643fs NC_000023.11:22226467:AAAA:AAAAA p.(Asn643LysfsTer4) NC_000023.11:22226467:AAAA:AAAAA p.(Asn643LysfsTer4) ERR:SPDI Analogous +NM_001244580.2:c.7014G>T NP_001231509.1:p.Met2338Ile NC_000007.14:98965753:G:T p.(Met2338Ile) NC_000007.14:98965753:G:T p.(Met2338Ile) NC_000007.14:98965753:G:T Identity +NM_000392.5:c.2910C>G NP_000383.2:p.Tyr970Ter NC_000010.11:99831636:C:G p.(Tyr970Ter) NC_000010.11:99831636:C:G p.(Tyr970Ter) NC_000010.11:99831636:C:G Identity +NM_001999.4:c.1078G>C NP_001990.2:p.Asp360His NC_000005.10:128408673:C:G p.(Asp360His) NC_000005.10:128408673:C:G p.(Asp360His) NC_000005.10:128408673:C:G Identity +NM_000037.4:c.2199del NP_000028.3:p.Gly734fs NC_000008.11:41704136:T: p.(Gly734AspfsTer17) NC_000008.11:41704136:T: p.(Gly734AspfsTer17) NC_000008.11:41704136:T: Analogous +NM_015346.4:c.4496C>A NP_056161.2:p.Ser1499Ter NC_000014.9:67781405:G:T p.(Ser1499Ter) NC_000014.9:67781405:G:T p.(Ser1499Ter) NC_000014.9:67781405:G:T Identity +NM_001204824.2:c.407C>T NP_001191753.1:p.Ala136Val NC_000008.11:132180166:G:A p.(Ala136Val) NC_000008.11:132180166:G:A p.(Ala136Val) NC_000008.11:132180166:G:A Identity +NM_001184.4:c.284G>A NP_001175.2:p.Ser95Asn NC_000003.12:142566128:C:T p.(Ser95Asn) NC_000003.12:142566128:C:T p.(Ser95Asn) NC_000003.12:142566128:C:T Identity +NM_000179.3:c.323G>T NP_000170.1:p.Cys108Phe NC_000002.12:47790988:G:T p.(Cys108Phe) NC_000002.12:47790988:G:T p.(Cys108Phe) NC_000002.12:47790988:G:T Identity +NM_001365023.1:c.146A>G NP_001351952.1:p.Gln49Arg NC_000009.12:74634649:A:G p.(Gln49Arg) NC_000009.12:74634649:A:G p.(Gln49Arg) NC_000009.12:74634649:A:G Identity +NM_001127231.3:c.3614G>T NP_001120703.1:p.Gly1205Val NC_000007.14:70790901:G:T p.(Gly1205Val) NC_000007.14:70790901:G:T p.(Gly1205Val) NC_000007.14:70790901:G:T Identity +NM_000245.4:c.844T>G NP_000236.2:p.Cys282Gly NC_000007.14:116699927:T:G p.(Cys282Gly) NC_000007.14:116699927:T:G p.(Cys282Gly) NC_000007.14:116699927:T:G Identity +NM_001081676.2:c.4044A>C NP_001075145.1:p.Lys1348Asn NC_000002.12:165097299:T:G p.(Lys1348Asn) NC_000002.12:165097299:T:G p.(Lys1348Asn) NC_000002.12:165097299:T:G Identity +NM_003482.4:c.2837C>T NP_003473.3:p.Ala946Val NC_000012.12:49050750:G:A p.(Ala946Val) NC_000012.12:49050750:G:A p.(Ala946Val) NC_000012.12:49050750:G:A Identity +NM_001029835.2:c.562C>T NP_001025006.1:p.Gln188Ter NC_000007.14:45068468:C:T p.(Gln188Ter) NC_000007.14:45068468:C:T p.(Gln188Ter) NC_000007.14:45068468:C:T Identity +NM_000264.5:c.2936A>T NP_000255.2:p.Asn979Ile NC_000009.12:95458244:T:A p.(Asn979Ile) NC_000009.12:95458244:T:A p.(Asn979Ile) NC_000009.12:95458244:T:A Identity +NM_152594.3:c.427A>G NP_689807.1:p.Asn143Asp NC_000015.10:38339739:A:G p.(Asn143Asp) NC_000015.10:38339739:A:G p.(Asn143Asp) NC_000015.10:38339739:A:G Identity +NM_000428.3:c.980C>T NP_000419.1:p.Thr327Ile NC_000014.9:74555543:G:A p.(Thr327Ile) NC_000014.9:74555543:G:A p.(Thr327Ile) NC_000014.9:74555543:G:A Identity +NM_001290184.2:c.117G>C NP_001277113.1:p.Gln39His NC_000001.11:160344812:G:C p.(Gln39His) NC_000001.11:160344812:G:C p.(Gln39His) NC_000001.11:160344812:G:C Identity +NM_001289396.2:c.4237G>A NP_001276325.1:p.Glu1413Lys NC_000009.12:2170455:G:A p.(Glu1413Lys) NC_000009.12:2170455:G:A p.(Glu1413Lys) NC_000009.12:2170455:G:A Identity +NM_001282660.2:c.779_780delinsTT NP_001269589.1:p.Ala260Val NC_000022.11:40420947:GG:AA p.(Ala260Val) NC_000022.11:40420947:GG:AA p.(Ala260Val) NC_000022.11:40420947:GG:AA Identity +NM_001164098.2:c.2429C>A NP_001157570.1:p.Thr810Lys NC_000005.10:83520734:C:A p.(Thr810Lys) NC_000005.10:83520734:C:A p.(Thr810Lys) NC_000005.10:83520734:C:A Identity +NM_001261406.2:c.4375_4376dup NP_001248335.1:p.Leu1460fs NC_000009.12:13126761:CCCCCC:CCCCCCCC p.(Leu1460ValfsTer17) NC_000009.12:13126761:CCCCCC:CCCCCCCC p.(Leu1460ValfsTer17) ERR:SPDI Analogous +NM_000548.5:c.3967G>T NP_000539.2:p.Ala1323Ser NC_000016.10:2083777:G:T p.(Ala1323Ser) NC_000016.10:2083777:G:T p.(Ala1323Ser) NC_000016.10:2083777:G:T Identity +NM_005733.3:c.1951C>A NP_005724.1:p.Leu651Ile NC_000005.10:138185535:C:A p.(Leu651Ile) NC_000005.10:138185535:C:A p.(Leu651Ile) NC_000005.10:138185535:C:A Identity +NM_000059.4:c.428C>A NP_000050.3:p.Pro143His NC_000013.11:32326102:C:A p.(Pro143His) NC_000013.11:32326102:C:A p.(Pro143His) NC_000013.11:32326102:C:A Identity +NM_000153.4:c.255T>A NP_000144.2:p.Tyr85Ter NC_000014.9:87988463:A:T p.(Tyr85Ter) NC_000014.9:87988463:A:T p.(Tyr85Ter) NC_000014.9:87988463:A:T Identity +NM_001317184.2:c.1001A>G NP_001304113.1:p.Asp334Gly NC_000016.10:68811851:A:G p.(Asp334Gly) NC_000016.10:68811851:A:G p.(Asp334Gly) NC_000016.10:68811851:A:G Identity +NM_000548.5:c.3255_3262del NP_000539.2:p.Gly1086fs NC_000016.10:2079397:CGGGGGAGC:C p.(Gly1086AlafsTer79) NC_000016.10:2079397:CGGGGGAGC:C p.(Gly1086AlafsTer79) NC_000016.10:2079398:GGGGGAGC: Analogous +NM_001157.3:c.230C>A NP_001148.1:p.Ala77Asp NC_000010.11:80169299:G:T p.(Ala77Asp) NC_000010.11:80169299:G:T p.(Ala77Asp) NC_000010.11:80169299:G:T Identity +NM_001379277.1:c.1241A>G NP_001366206.1:p.Asp414Gly NC_000007.14:92070992:A:G p.(Asp414Gly) NC_000007.14:92070992:A:G p.(Asp414Gly) NC_000007.14:92070992:A:G Identity +NM_001371986.1:c.3809A>T NP_001358915.1:p.Asn1270Ile NC_000002.12:209872938:A:T p.(Asn1270Ile) NC_000002.12:209872938:A:T p.(Asn1270Ile) NC_000002.12:209872938:A:T Identity +NM_001199917.2:c.1632A>G NP_001186846.1:p.Ala544= NC_000006.12:83169314:T:C p.(Ala544=) NC_000006.12:83169314:T:C p.(Ala544=) NC_000006.12:83169314:T:C Identity +NM_001411138.1:c.316dup NP_001398067.1:p.Glu106fs NC_000019.10:13912529:GG:GGG p.(Glu106GlyfsTer4) NC_000019.10:13912529:GG:GGG p.(Glu106GlyfsTer4) ERR:SPDI Analogous +NM_001012720.2:c.212T>G NP_001012738.1:p.Val71Gly NC_000010.11:84247722:T:G p.(Val71Gly) NC_000010.11:84247722:T:G p.(Val71Gly) NC_000010.11:84247722:T:G Identity +NM_001277115.2:c.3935A>G NP_001264044.1:p.Glu1312Gly NC_000007.14:21615195:A:G p.(Glu1312Gly) NC_000007.14:21615195:A:G p.(Glu1312Gly) NC_000007.14:21615195:A:G Identity +NM_000492.4:c.3290G>C NP_000483.3:p.Arg1097Pro NC_000007.14:117611730:G:C p.(Arg1097Pro) NC_000007.14:117611730:G:C p.(Arg1097Pro) NC_000007.14:117611730:G:C Identity +NM_001130438.3:c.3530G>A NP_001123910.1:p.Gly1177Asp NC_000009.12:128598972:G:A p.(Gly1177Asp) NC_000009.12:128598972:G:A p.(Gly1177Asp) NC_000009.12:128598972:G:A Identity +NM_001177428.1:c.1386dup NP_001170899.1:p.Arg463fs NC_000012.12:109793986:C:CC p.(Arg463AlafsTer37) NC_000012.12:109793986:C:CC p.(Arg463AlafsTer37) ERR:SPDI Analogous +NM_032228.6:c.1419C>G NP_115604.1:p.Ile473Met NC_000011.10:13728644:C:G p.(Ile473Met) NC_000011.10:13728644:C:G p.(Ile473Met) NC_000011.10:13728644:C:G Identity +NM_001378120.1:c.4219A>G NP_001365049.1:p.Lys1407Glu NC_000002.12:148489850:A:G p.(Lys1407Glu) NC_000002.12:148489850:A:G p.(Lys1407Glu) NC_000002.12:148489850:A:G Identity +NM_000276.4:c.344A>G NP_000267.2:p.Gln115Arg NC_000023.11:129557429:A:G p.(Gln115Arg) NC_000023.11:129557429:A:G p.(Gln115Arg) NC_000023.11:129557429:A:G Identity +NM_000492.4:c.3351_3352del NP_000483.3:p.Ser1118fs NC_000007.14:117611790:TTT:T p.(Ser1118HisfsTer37) NC_000007.14:117611790:TTT:T p.(Ser1118HisfsTer37) NC_000007.14:117611791:TT: Analogous +NM_001195573.1:c.245C>A NP_001182502.1:p.Ser82Tyr NC_000014.9:95132576:G:T p.(Ser82Tyr) NC_000014.9:95132576:G:T p.(Ser82Tyr) NC_000014.9:95132576:G:T Identity +NM_021076.4:c.2459T>C NP_066554.2:p.Val820Ala NC_000022.11:29490098:T:C p.(Val820Ala) NC_000022.11:29490098:T:C p.(Val820Ala) NC_000022.11:29490098:T:C Identity +NM_000487.6:c.908G>T NP_000478.3:p.Gly303Val NC_000022.11:50626224:C:A p.(Gly303Val) NC_000022.11:50626224:C:A p.(Gly303Val) NC_000022.11:50626224:C:A Identity +NM_001303256.3:c.3008C>T NP_001290185.1:p.Ala1003Val NC_000022.11:30928040:G:A p.(Ala1003Val) NC_000022.11:30928040:G:A p.(Ala1003Val) NC_000022.11:30928040:G:A Identity +NM_001278463.2:c.139G>T NP_001265392.1:p.Gly47Trp NC_000012.12:32701450:G:T p.(Gly47Trp) NC_000012.12:32701450:G:T p.(Gly47Trp) NC_000012.12:32701450:G:T Identity +NM_001142805.2:c.787T>C NP_001136277.1:p.Phe263Leu NC_000023.11:153693049:T:C p.(Phe263Leu) NC_000023.11:153693049:T:C p.(Phe263Leu) NC_000023.11:153693049:T:C Identity +NM_000064.4:c.2457C>A NP_000055.2:p.Asp819Glu NC_000019.10:6697777:G:T p.(Asp819Glu) NC_000019.10:6697777:G:T p.(Asp819Glu) NC_000019.10:6697777:G:T Identity +NM_001127231.3:c.338G>A NP_001120703.1:p.Arg113His NC_000007.14:69899313:G:A p.(Arg113His) NC_000007.14:69899313:G:A p.(Arg113His) NC_000007.14:69899313:G:A Identity +NM_001256789.3:c.5651C>G NP_001243718.1:p.Ala1884Gly NC_000023.11:49205634:G:C p.(Ala1884Gly) NC_000023.11:49205634:G:C p.(Ala1884Gly) NC_000023.11:49205634:G:C Identity +NM_000327.4:c.52G>T NP_000318.2:p.Ala18Ser NC_000011.10:62613332:G:T p.(Ala18Ser) NC_000011.10:62613332:G:T p.(Ala18Ser) NC_000011.10:62613332:G:T Identity +NM_000249.4:c.1634C>G NP_000240.1:p.Thr545Ser NC_000003.12:37040260:C:G p.(Thr545Ser) NC_000003.12:37040260:C:G p.(Thr545Ser) NC_000003.12:37040260:C:G Identity +NM_001202470.3:c.222G>C NP_001189399.1:p.Glu74Asp NC_000006.12:34424768:C:G p.(Glu74Asp) NC_000006.12:34424768:C:G p.(Glu74Asp) NC_000006.12:34424768:C:G Identity +NM_001310332.2:c.2117C>G NP_001297261.1:p.Ala706Gly NC_000014.9:24157365:C:G p.(Ala706Gly) NC_000014.9:24157365:C:G p.(Ala706Gly) NC_000014.9:24157365:C:G Identity +NM_001349655.2:c.102T>G NP_001336584.1:p.Ile34Met NC_000013.11:72783570:T:G p.(Ile34Met) NC_000013.11:72783570:T:G p.(Ile34Met) NC_000013.11:72783570:T:G Identity +NM_001384158.1:c.1275A>T NP_001371087.1:p.Lys425Asn NC_000014.9:91877519:T:A p.(Lys425Asn) NC_000014.9:91877519:T:A p.(Lys425Asn) NC_000014.9:91877519:T:A Identity +NM_001367624.2:c.7842G>C NP_001354553.1:p.Arg2614Ser NC_000016.10:88435311:G:C p.(Arg2614Ser) NC_000016.10:88435311:G:C p.(Arg2614Ser) NC_000016.10:88435311:G:C Identity +NM_001142800.2:c.4951del NP_001136272.1:p.Leu1651fs NC_000006.12:64590915:GGG:GG p.(Leu1651TyrfsTer28) NC_000006.12:64590915:GGG:GG p.(Leu1651TyrfsTer28) NC_000006.12:64590915:G: Analogous +NM_001386500.1:c.2752T>C NP_001373429.1:p.Ser918Pro NC_000001.11:11230951:A:G p.(Ser918Pro) NC_000001.11:11230951:A:G p.(Ser918Pro) NC_000001.11:11230951:A:G Identity +NM_013447.4:c.1535G>A NP_038475.2:p.Cys512Tyr NC_000019.10:14755008:C:T p.(Cys512Tyr) NC_000019.10:14755008:C:T p.(Cys512Tyr) NC_000019.10:14755008:C:T Identity +NM_001258392.3:c.709T>G NP_001245321.1:p.Cys237Gly NC_000011.10:72358945:A:C p.(Cys237Gly) NC_000011.10:72358945:A:C p.(Cys237Gly) NC_000011.10:72358945:A:C Identity +NM_002439.5:c.545C>A NP_002430.3:p.Ser182Tyr NC_000005.10:80665328:C:A p.(Ser182Tyr) NC_000005.10:80665328:C:A p.(Ser182Tyr) NC_000005.10:80665328:C:A Identity +NM_001386500.1:c.7181G>C NP_001373429.1:p.Gly2394Ala NC_000001.11:11114436:C:G p.(Gly2394Ala) NC_000001.11:11114436:C:G p.(Gly2394Ala) NC_000001.11:11114436:C:G Identity +NM_001289910.1:c.1169A>G NP_001276839.1:p.Lys390Arg NC_000015.10:90084299:T:C p.(Lys390Arg) NC_000015.10:90084299:T:C p.(Lys390Arg) NC_000015.10:90084299:T:C Identity +NM_001165963.4:c.2176G>T NP_001159435.1:p.Glu726Ter NC_000002.12:166042291:C:A p.(Glu726Ter) NC_000002.12:166042291:C:A p.(Glu726Ter) NC_000002.12:166042291:C:A Identity +NM_001127208.3:c.1784_1785insCCCAT NP_001120680.1:p.Leu596fs NC_000004.12:105235726::CCCAT p.(Leu596ProfsTer7) NC_000004.12:105235725:A:CCCAT p.(Leu596ProfsTer7) NC_000004.12:105235726:AT:CCCAT Analogous +NM_001363813.1:c.1474G>T NP_001350742.1:p.Ala492Ser NC_000017.11:65537561:C:A p.(Ala492Ser) NC_000017.11:65537561:C:A p.(Ala492Ser) NC_000017.11:65537561:C:A Identity +NM_000109.4:c.10027_10043del NP_000100.3:p.Lys3343fs NC_000023.11:31180388:ATGGGATAGTGCATTTTATGG:ATGG p.(Lys3343GlyfsTer76) NC_000023.11:31180388:ATGGGATAGTGCATTTTATGG:ATGG p.(Lys3343GlyfsTer76) NC_000023.11:31180388:ATGGGATAGTGCATTTT: Analogous +NM_006766.5:c.4186C>T NP_006757.2:p.His1396Tyr NC_000008.11:41934033:G:A p.(His1396Tyr) NC_000008.11:41934033:G:A p.(His1396Tyr) NC_000008.11:41934033:G:A Identity +NM_000298.6:c.1130T>C NP_000289.1:p.Met377Thr NC_000001.11:155293576:A:G p.(Met377Thr) NC_000001.11:155293576:A:G p.(Met377Thr) NC_000001.11:155293576:A:G Identity +NM_000057.4:c.3979G>A NP_000048.1:p.Ala1327Thr NC_000015.10:90811308:G:A p.(Ala1327Thr) NC_000015.10:90811308:G:A p.(Ala1327Thr) NC_000015.10:90811308:G:A Identity +NM_001136052.3:c.2276G>A NP_001129524.1:p.Arg759His NC_000019.10:49713501:G:A p.(Arg759His) NC_000019.10:49713501:G:A p.(Arg759His) NC_000019.10:49713501:G:A Identity +NM_003265.3:c.1336G>A NP_003256.1:p.Glu446Lys NC_000004.12:186083021:G:A p.(Glu446Lys) NC_000004.12:186083021:G:A p.(Glu446Lys) NC_000004.12:186083021:G:A Identity +NM_006734.4:c.1433T>C NP_006725.3:p.Leu478Pro NC_000006.12:142773305:A:G p.(Leu478Pro) NC_000006.12:142773305:A:G p.(Leu478Pro) NC_000006.12:142773305:A:G Identity +NM_001363711.2:c.3364G>T NP_001350640.1:p.Ala1122Ser NC_000015.10:45099712:C:A p.(Ala1122Ser) NC_000015.10:45099712:C:A p.(Ala1122Ser) NC_000015.10:45099712:C:A Identity +NM_000238.4:c.835del NP_000229.1:p.Val279fs NC_000007.14:150958139:C: p.(Val279CysfsTer81) NC_000007.14:150958139:C: p.(Val279CysfsTer81) NC_000007.14:150958139:C: Analogous +NM_000297.4:c.2729G>A NP_000288.1:p.Arg910His NC_000004.12:88075515:G:A p.(Arg910His) NC_000004.12:88075515:G:A p.(Arg910His) NC_000004.12:88075515:G:A Identity +NM_000395.3:c.434A>C NP_000386.1:p.Gln145Pro NC_000022.11:36929443:A:C p.(Gln145Pro) NC_000022.11:36929443:A:C p.(Gln145Pro) NC_000022.11:36929443:A:C Identity +NM_000550.3:c.647_668del NP_000541.1:p.Glu216fs NC_000009.12:12695771:CATGAGGGACCAGCTTTTCTCACATG:CATG p.(Glu216GlyfsTer43) NC_000009.12:12695771:CATGAGGGACCAGCTTTTCTCACATG:CATG p.(Glu216GlyfsTer43) NC_000009.12:12695775:AGGGACCAGCTTTTCTCACATG: Analogous +NM_014845.6:c.1134del NP_055660.1:p.Lys379fs NC_000006.12:109743768:G: p.(Lys379ArgfsTer12) NC_000006.12:109743768:G: p.(Lys379ArgfsTer12) NC_000006.12:109743768:G: Analogous +NM_000548.5:c.1340C>A NP_000539.2:p.Ala447Glu NC_000016.10:2062578:C:A p.(Ala447Glu) NC_000016.10:2062578:C:A p.(Ala447Glu) NC_000016.10:2062578:C:A Identity +NM_173689.7:c.3699CCT[5] NP_775960.4:p.Leu1239del NC_000009.12:123376902:CCTCCTCCTCCTCCTCCT:CCTCCTCCTCCTCCT p.(Leu1239del) NC_000009.12:123376902:C:CCTCCTCCTCCTCCT ERR:Parse ERR:Parse Identity +LRG_494t2:c.1085C>T LRG_494p2:p.Ser362Phe NC_000011.10:44130049:C:T ERR:Data provider error: ValueError: Transcript LRG_494t2 not found ERR:Data provider error: ValueError: Transcript LRG_494t2 not found ERR:AlignmentMapper(tx_ac=LRG_494t2, alt_ac=LRG_494t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_494t2, alt_ac=LRG_494t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_494t2 not found +NM_001010892.3:c.1370A>G NP_001010892.1:p.Lys457Arg NC_000006.12:116628076:A:G p.(Lys457Arg) NC_000006.12:116628076:A:G p.(Lys457Arg) NC_000006.12:116628076:A:G Identity +NM_001134830.2:c.3313del NP_001128302.1:p.His1105fs NC_000006.12:135323176:G: p.(His1105MetfsTer15) NC_000006.12:135323176:G: p.(His1105MetfsTer15) NC_000006.12:135323176:G: Analogous +NM_001102406.2:c.648A>T NP_001095876.1:p.Leu216Phe NC_000004.12:112426491:A:T p.(Leu216Phe) NC_000004.12:112426491:A:T p.(Leu216Phe) NC_000004.12:112426491:A:T Identity +NM_012281.3:c.1456G>A NP_036413.1:p.Glu486Lys NC_000007.14:120742590:G:A p.(Glu486Lys) NC_000007.14:120742590:G:A p.(Glu486Lys) NC_000007.14:120742590:G:A Identity +NM_004304.5:c.2702C>T NP_004295.2:p.Thr901Ile NC_000002.12:29228996:G:A p.(Thr901Ile) NC_000002.12:29228996:G:A p.(Thr901Ile) NC_000002.12:29228996:G:A Identity +NM_001410876.1:c.1322T>C NP_001397805.1:p.Leu441Pro NC_000006.12:35466248:T:C p.(Leu441Pro) NC_000006.12:35466248:T:C p.(Leu441Pro) NC_000006.12:35466248:T:C Identity +NM_001046.3:c.2935G>T NP_001037.1:p.Glu979Ter NC_000005.10:128177109:G:T p.(Glu979Ter) NC_000005.10:128177109:G:T p.(Glu979Ter) NC_000005.10:128177109:G:T Identity +NM_017767.3:c.176del NP_060237.3:p.Pro59fs NC_000008.11:144416032:GGGGG:GGGG p.(Pro59ArgfsTer53) NC_000008.11:144416032:GGGGG:GGGG p.(Pro59ArgfsTer53) NC_000008.11:144416032:G: Analogous +NM_001287.6:c.179G>A NP_001278.1:p.Ser60Asn NC_000016.10:1465300:C:T p.(Ser60Asn) NC_000016.10:1465300:C:T p.(Ser60Asn) NC_000016.10:1465300:C:T Identity +NM_000392.5:c.466C>T NP_000383.2:p.Gln156Ter NC_000010.11:99793682:C:T p.(Gln156Ter) NC_000010.11:99793682:C:T p.(Gln156Ter) NC_000010.11:99793682:C:T Identity +NM_000660.7:c.302C>T NP_000651.3:p.Ala101Val NC_000019.10:41352742:G:A p.(Ala101Val) NC_000019.10:41352742:G:A p.(Ala101Val) NC_000019.10:41352742:G:A Identity +NM_006158.5:c.836G>T NP_006149.2:p.Trp279Leu NC_000008.11:24955679:C:A p.(Trp279Leu) NC_000008.11:24955679:C:A p.(Trp279Leu) NC_000008.11:24955679:C:A Identity +NM_000179.3:c.1165C>A NP_000170.1:p.Pro389Thr NC_000002.12:47799147:C:A p.(Pro389Thr) NC_000002.12:47799147:C:A p.(Pro389Thr) NC_000002.12:47799147:C:A Identity +NM_001348424.1:c.1711A>G NP_001335353.1:p.Ile571Val NC_000003.12:125233014:T:C p.(Ile571Val) NC_000003.12:125233014:T:C p.(Ile571Val) NC_000003.12:125233014:T:C Identity +NM_001097577.3:c.370T>A NP_001091046.1:p.Phe124Ile NC_000014.9:20693933:T:A p.(Phe124Ile) NC_000014.9:20693933:T:A p.(Phe124Ile) NC_000014.9:20693933:T:A Identity +NM_000334.4:c.5363G>A NP_000325.4:p.Ser1788Asn NC_000017.11:63940918:C:T p.(Ser1788Asn) NC_000017.11:63940918:C:T p.(Ser1788Asn) NC_000017.11:63940918:C:T Identity +NM_005732.4:c.3479T>G NP_005723.2:p.Ile1160Ser NC_000005.10:132638083:T:G p.(Ile1160Ser) NC_000005.10:132638083:T:G p.(Ile1160Ser) NC_000005.10:132638083:T:G Identity +NM_001256849.1:c.1427C>T NP_001243778.1:p.Ala476Val NC_000019.10:50406449:C:T p.(Ala476Val) NC_000019.10:50406449:C:T p.(Ala476Val) NC_000019.10:50406449:C:T Identity +NM_001190274.2:c.542G>A NP_001177203.1:p.Cys181Tyr NC_000002.12:47838903:C:T p.(Cys181Tyr) NC_000002.12:47838903:C:T p.(Cys181Tyr) NC_000002.12:47838903:C:T Identity +NM_001127325.2:c.145A>G NP_001120797.1:p.Asn49Asp NC_000001.11:11680366:T:C p.(Asn49Asp) NC_000001.11:11680366:T:C p.(Asn49Asp) NC_000001.11:11680366:T:C Identity +NM_001382235.1:c.1A>T NP_001369164.1:p.Met1Leu NC_000020.11:63472462:T:A p.(Met1Leu) NC_000020.11:63472462:T:A p.Met1? NC_000020.11:63472462:T:A Identity +NM_000283.4:c.1235A>G NP_000274.3:p.Glu412Gly NC_000004.12:657000:A:G p.(Glu412Gly) NC_000004.12:657000:A:G p.(Glu412Gly) NC_000004.12:657000:A:G Identity +NM_000057.4:c.952T>C NP_000048.1:p.Cys318Arg NC_000015.10:90751938:T:C p.(Cys318Arg) NC_000015.10:90751938:T:C p.(Cys318Arg) NC_000015.10:90751938:T:C Identity +NM_000210.4:c.890_891insT NP_000201.2:p.Lys297fs NC_000002.12:172474169::T p.(Lys297AsnfsTer8) NC_000002.12:172474168:A:T p.(Lys297AsnfsTer8) NC_000002.12:172474169:AG:T Analogous +NM_006563.5:c.217T>C NP_006554.1:p.Trp73Arg NC_000019.10:12886012:A:G p.(Trp73Arg) NC_000019.10:12886012:A:G p.(Trp73Arg) NC_000019.10:12886012:A:G Identity +NM_001414244.1:c.2728G>A NP_001401173.1:p.Gly910Arg NC_000012.12:12158891:C:T p.(Gly910Arg) NC_000012.12:12158891:C:T p.(Gly910Arg) NC_000012.12:12158891:C:T Identity +NM_001303245.3:c.2534T>C NP_001290174.1:p.Ile845Thr NC_000003.12:141612293:T:C p.(Ile845Thr) NC_000003.12:141612293:T:C p.(Ile845Thr) NC_000003.12:141612293:T:C Identity +NM_001379200.1:c.1265A>G NP_001366129.1:p.His422Arg NC_000022.11:19766616:A:G p.(His422Arg) NC_000022.11:19766616:A:G p.(His422Arg) NC_000022.11:19766616:A:G Identity +NM_001104631.2:c.836A>C NP_001098101.1:p.Glu279Ala NC_000005.10:59038943:T:G p.(Glu279Ala) NC_000005.10:59038943:T:G p.(Glu279Ala) NC_000005.10:59038943:T:G Identity +NM_000075.4:c.347_348delinsGA NP_000066.1:p.Thr116Arg NC_000012.12:57751212:CG:TC p.(Thr116Arg) NC_000012.12:57751212:CG:TC p.(Thr116Arg) NC_000012.12:57751212:CG:TC Identity +NM_001848.3:c.1951G>T NP_001839.2:p.Val651Phe NC_000021.9:46001380:G:T p.(Val651Phe) NC_000021.9:46001380:G:T p.(Val651Phe) NC_000021.9:46001380:G:T Identity +NM_000334.4:c.754G>A NP_000325.4:p.Asp252Asn NC_000017.11:63968304:C:T p.(Asp252Asn) NC_000017.11:63968304:C:T p.(Asp252Asn) NC_000017.11:63968304:C:T Identity +NM_006785.4:c.1551_1554del NP_006776.1:p.Arg518fs NC_000018.10:58735273:AGACAGA:AGA p.(Arg518TyrfsTer2) NC_000018.10:58735273:AGACAGA:AGA p.(Arg518TyrfsTer2) NC_000018.10:58735276:CAGA: Analogous +NM_001014987.2:c.208T>C NP_001014987.1:p.Tyr70His NC_000016.10:28986178:T:C p.(Tyr70His) NC_000016.10:28986178:T:C p.(Tyr70His) NC_000016.10:28986178:T:C Identity +NM_000051.4:c.4978A>C NP_000042.3:p.Asn1660His NC_000011.10:108297354:A:C p.(Asn1660His) NC_000011.10:108297354:A:C p.(Asn1660His) NC_000011.10:108297354:A:C Identity +NM_001193465.2:c.1939G>A NP_001180394.1:p.Glu647Lys NC_000017.11:46050613:C:T p.(Glu647Lys) NC_000017.11:46050613:C:T p.(Glu647Lys) NC_000017.11:46050613:C:T Identity +NM_002876.4:c.395C>A NP_002867.1:p.Thr132Lys NC_000017.11:58695179:C:A p.(Thr132Lys) NC_000017.11:58695179:C:A p.(Thr132Lys) NC_000017.11:58695179:C:A Identity +NM_001330358.2:c.995_998dup NP_001317287.1:p.Ala334fs NC_000001.11:11795253:GCAT:GCATGCAT p.(Ala334CysfsTer50) NC_000001.11:11795253:GCAT:GCATGCAT p.(Ala334CysfsTer50) ERR:SPDI Analogous +NM_001242828.2:c.401T>A NP_001229757.1:p.Met134Lys NC_000006.12:53276182:A:T p.(Met134Lys) NC_000006.12:53276182:A:T p.(Met134Lys) NC_000006.12:53276182:A:T Identity +NM_001127325.2:c.237T>A NP_001120797.1:p.Asp79Glu NC_000001.11:11676942:A:T p.(Asp79Glu) NC_000001.11:11676942:A:T p.(Asp79Glu) NC_000001.11:11676942:A:T Identity +NM_000135.4:c.2426G>T NP_000126.2:p.Gly809Val NC_000016.10:89769914:C:A p.(Gly809Val) NC_000016.10:89769914:C:A p.(Gly809Val) NC_000016.10:89769914:C:A Identity +NM_001126131.2:c.1912dup NP_001119603.1:p.Thr638fs NC_000015.10:89325486:T:TT p.(Thr638AsnfsTer46) NC_000015.10:89325486:T:TT p.(Thr638AsnfsTer46) ERR:SPDI Analogous +NM_000061.3:c.26T>A NP_000052.1:p.Ile9Asn NC_000023.11:101375258:A:T p.(Ile9Asn) NC_000023.11:101375258:A:T p.(Ile9Asn) NC_000023.11:101375258:A:T Identity +NM_000833.5:c.106A>G NP_000824.1:p.Ile36Val NC_000016.10:10180305:T:C p.(Ile36Val) NC_000016.10:10180305:T:C p.(Ile36Val) NC_000016.10:10180305:T:C Identity +NM_001379277.1:c.3079T>G NP_001366206.1:p.Cys1027Gly NC_000007.14:92083442:T:G p.(Cys1027Gly) NC_000007.14:92083442:T:G p.(Cys1027Gly) NC_000007.14:92083442:T:G Identity +NM_000059.4:c.4419C>G NP_000050.3:p.Asn1473Lys NC_000013.11:32338773:C:G p.(Asn1473Lys) NC_000013.11:32338773:C:G p.(Asn1473Lys) NC_000013.11:32338773:C:G Identity +NM_000059.4:c.8249A>G NP_000050.3:p.Lys2750Arg NC_000013.11:32363450:A:G p.(Lys2750Arg) NC_000013.11:32363450:A:G p.(Lys2750Arg) NC_000013.11:32363450:A:G Identity +NM_001346850.2:c.293G>A NP_001333779.1:p.Ser98Asn NC_000012.12:7065892:G:A p.(Ser98Asn) NC_000012.12:7065892:G:A p.(Ser98Asn) NC_000012.12:7065892:G:A Identity +NM_001258215.1:c.1974G>T NP_001245144.1:p.Met658Ile NC_000001.11:67395731:G:T p.(Met658Ile) NC_000001.11:67395731:G:T p.(Met658Ile) NC_000001.11:67395731:G:T Identity +NM_001288705.3:c.2068G>A NP_001275634.1:p.Gly690Ser NC_000005.10:150059763:C:T p.(Gly690Ser) NC_000005.10:150059763:C:T p.(Gly690Ser) NC_000005.10:150059763:C:T Identity +NM_000748.3:c.1426G>A NP_000739.1:p.Gly476Ser NC_000001.11:154575848:G:A p.(Gly476Ser) NC_000001.11:154575848:G:A p.(Gly476Ser) NC_000001.11:154575848:G:A Identity +NM_004501.3:c.376G>C NP_004492.2:p.Ala126Pro NC_000001.11:244863931:C:G p.(Ala126Pro) NC_000001.11:244863931:C:G p.(Ala126Pro) NC_000001.11:244863931:C:G Identity +NM_001256849.1:c.2035G>C NP_001243778.1:p.Asp679His NC_000019.10:50409546:G:C p.(Asp679His) NC_000019.10:50409546:G:C p.(Asp679His) NC_000019.10:50409546:G:C Identity +NM_001411020.1:c.551T>C NP_001397949.1:p.Val184Ala NC_000014.9:50188659:A:G p.(Val184Ala) NC_000014.9:50188659:A:G p.(Val184Ala) NC_000014.9:50188659:A:G Identity +NM_001098209.2:c.224C>T NP_001091679.1:p.Thr75Ile NC_000003.12:41224735:C:T p.(Thr75Ile) NC_000003.12:41224735:C:T p.(Thr75Ile) NC_000003.12:41224735:C:T Identity +NM_031935.3:c.13187T>C NP_114141.2:p.Ile4396Thr NC_000001.11:186130653:T:C p.(Ile4396Thr) NC_000001.11:186130653:T:C p.(Ile4396Thr) NC_000001.11:186130653:T:C Identity +NM_001166133.2:c.1636del NP_001159605.1:p.Ser546fs NC_000004.12:78308166:A: p.(Ser546AlafsTer151) NC_000004.12:78308166:A: p.(Ser546AlafsTer151) NC_000004.12:78308166:A: Analogous +NM_001113755.3:c.331C>T NP_001107227.1:p.Gln111Ter NC_000022.11:50529221:G:A p.(Gln111Ter) NC_000022.11:50529221:G:A p.(Gln111Ter) NC_000022.11:50529221:G:A Identity +NM_001080115.2:c.988del NP_001073584.1:p.Ser330fs NC_000010.11:86699365:AAAA:AAA p.(Ser330AlafsTer27) NC_000010.11:86699365:AAAA:AAA p.(Ser330AlafsTer27) NC_000010.11:86699368:A: Analogous +NM_000275.3:c.925C>T NP_000266.2:p.Gln309Ter NC_000015.10:28014894:G:A p.(Gln309Ter) NC_000015.10:28014894:G:A p.(Gln309Ter) NC_000015.10:28014894:G:A Identity +NM_207361.6:c.3297dup NP_997244.4:p.Asp1100Ter NC_000013.11:38690640:T:TT p.(Asp1100Ter) NC_000013.11:38690640:T:TT p.(Asp1100Ter) ERR:SPDI Identity +NM_032520.5:c.608dup NP_115909.1:p.His205fs NC_000016.10:1362532:A:AA p.(His205ProfsTer2) NC_000016.10:1362532:A:AA p.(His205ProfsTer2) ERR:SPDI Analogous +NM_001184751.2:c.1822T>A NP_001171680.1:p.Tyr608Asn NC_000011.10:46705545:T:A p.(Tyr608Asn) NC_000011.10:46705545:T:A p.(Tyr608Asn) NC_000011.10:46705545:T:A Identity +NM_000103.4:c.671G>A NP_000094.2:p.Trp224Ter NC_000015.10:51218612:C:T p.(Trp224Ter) NC_000015.10:51218612:C:T p.(Trp224Ter) NC_000015.10:51218612:C:T Identity +NM_001382235.1:c.1054_1055del NP_001369164.1:p.Ser352fs NC_000020.11:63433871:GAGAG:GAG p.(Ser352AlafsTer48) NC_000020.11:63433871:GAGAG:GAG p.(Ser352AlafsTer48) NC_000020.11:63433871:GA: Analogous +NM_007312.3:c.775C>T NP_009296.1:p.Gln259Ter NC_000003.12:50302181:G:A ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:Data provider error: ValueError: Transcript NM_007312.3 not found ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007312.3, alt_ac=NM_007312.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007312.3 not found +NM_000251.3:c.2750C>G NP_000242.1:p.Ala917Gly NC_000002.12:47482893:C:G p.(Ala917Gly) NC_000002.12:47482893:C:G p.(Ala917Gly) NC_000002.12:47482893:C:G Identity +NM_000535.7:c.1160dup NP_000526.2:p.Met387fs NC_000007.14:5987604:A:AA p.(Met387IlefsTer71) NC_000007.14:5987604:A:AA p.(Met387IlefsTer71) ERR:SPDI Analogous +NM_000244.4:c.593dup NP_000235.3:p.Ala199fs NC_000011.10:64807966:G:GG p.(Ala199SerfsTer2) NC_000011.10:64807966:G:GG p.(Ala199SerfsTer2) ERR:SPDI Analogous +NM_001282531.3:c.2087G>A NP_001269460.1:p.Gly696Asp NC_000020.11:50892626:C:T p.(Gly696Asp) NC_000020.11:50892626:C:T p.(Gly696Asp) NC_000020.11:50892626:C:T Identity +NM_138459.5:c.119_132dup NP_612468.1:p.Ser45fs NC_000006.12:117675788:GCTGCCGCGCCGCC:GCTGCCGCGCCGCCGCTGCCGCGCCGCC p.(Ser45AlafsTer10) NC_000006.12:117675788:GCTGCCGCGCCGCC:GCTGCCGCGCCGCCGCTGCCGCGCCGCC p.(Ser45AlafsTer10) ERR:SPDI Analogous +NM_005732.4:c.3124T>G NP_005723.2:p.Leu1042Val NC_000005.10:132616089:T:G p.(Leu1042Val) NC_000005.10:132616089:T:G p.(Leu1042Val) NC_000005.10:132616089:T:G Identity +NM_000051.4:c.2974A>G NP_000042.3:p.Asn992Asp NC_000011.10:108271302:A:G p.(Asn992Asp) NC_000011.10:108271302:A:G p.(Asn992Asp) NC_000011.10:108271302:A:G Identity +NM_001110792.2:c.822G>C NP_001104262.1:p.Gln274His NC_000023.11:154031041:C:G p.(Gln274His) NC_000023.11:154031041:C:G p.(Gln274His) NC_000023.11:154031041:C:G Identity +NM_170606.3:c.11266G>A NP_733751.2:p.Ala3756Thr NC_000007.14:152162310:C:T p.(Ala3756Thr) NC_000007.14:152162310:C:T p.(Ala3756Thr) NC_000007.14:152162310:C:T Identity +NM_001318860.2:c.305G>C NP_001305789.1:p.Cys102Ser NC_000002.12:73957128:G:C p.(Cys102Ser) NC_000002.12:73957128:G:C p.(Cys102Ser) NC_000002.12:73957128:G:C Identity +NM_001572.5:c.1279C>T NP_001563.2:p.Arg427Cys NC_000011.10:613075:G:A p.(Arg427Cys) NC_000011.10:613075:G:A p.(Arg427Cys) NC_000011.10:613075:G:A Identity +NM_015180.6:c.20468G>A NP_055995.4:p.Arg6823Gln NC_000014.9:64225335:G:A p.(Arg6823Gln) NC_000014.9:64225335:G:A p.(Arg6823Gln) NC_000014.9:64225335:G:A Identity +NM_001363711.2:c.1425C>A NP_001350640.1:p.Tyr475Ter NC_000015.10:45108195:G:T p.(Tyr475Ter) NC_000015.10:45108195:G:T p.(Tyr475Ter) NC_000015.10:45108195:G:T Identity +NM_001330384.2:c.338G>T NP_001317313.1:p.Arg113Leu NC_000019.10:15268989:C:A p.(Arg113Leu) NC_000019.10:15268989:C:A p.(Arg113Leu) NC_000019.10:15268989:C:A Identity +NM_001261826.3:c.1094A>T NP_001248755.1:p.Tyr365Phe NC_000019.10:2121740:T:A p.(Tyr365Phe) NC_000019.10:2121740:T:A p.(Tyr365Phe) NC_000019.10:2121740:T:A Identity +NM_003737.4:c.1150C>T NP_003728.1:p.Leu384Phe NC_000011.10:6640463:G:A p.(Leu384Phe) NC_000011.10:6640463:G:A p.(Leu384Phe) NC_000011.10:6640463:G:A Identity +NM_001256849.1:c.2254G>A NP_001243778.1:p.Val752Met NC_000019.10:50413744:G:A p.(Val752Met) NC_000019.10:50413744:G:A p.(Val752Met) NC_000019.10:50413744:G:A Identity +NM_001164665.2:c.1910C>T NP_001158137.1:p.Ser637Phe NC_000007.14:138917715:G:A p.(Ser637Phe) NC_000007.14:138917715:G:A p.(Ser637Phe) NC_000007.14:138917715:G:A Identity +NM_001385907.1:c.1981G>C NP_001372836.1:p.Gly661Arg NC_000009.12:32473001:C:G p.(Gly661Arg) NC_000009.12:32473001:C:G p.(Gly661Arg) NC_000009.12:32473001:C:G Identity +NM_001410908.1:c.2687C>G NP_001397837.1:p.Ala896Gly NC_000007.14:105106611:C:G p.(Ala896Gly) NC_000007.14:105106611:C:G p.(Ala896Gly) NC_000007.14:105106611:C:G Identity +NM_005733.3:c.1929G>C NP_005724.1:p.Glu643Asp NC_000005.10:138185513:G:C p.(Glu643Asp) NC_000005.10:138185513:G:C p.(Glu643Asp) NC_000005.10:138185513:G:C Identity +NM_001413017.1:c.3111G>A NP_001399946.1:p.Trp1037Ter NC_000008.11:144511777:C:T p.(Trp1037Ter) NC_000008.11:144511777:C:T p.(Trp1037Ter) NC_000008.11:144511777:C:T Identity +NM_000198.4:c.76A>T NP_000189.1:p.Lys26Ter NC_000001.11:119415494:A:T p.(Lys26Ter) NC_000001.11:119415494:A:T p.(Lys26Ter) NC_000001.11:119415494:A:T Identity +NM_001379141.1:c.574C>T NP_001366070.1:p.His192Tyr NC_000018.10:44949913:C:T p.(His192Tyr) NC_000018.10:44949913:C:T p.(His192Tyr) NC_000018.10:44949913:C:T Identity +NM_001345868.2:c.177C>G NP_001332797.1:p.Asp59Glu NC_000004.12:44680451:C:G p.(Asp59Glu) NC_000004.12:44680451:C:G p.(Asp59Glu) NC_000004.12:44680451:C:G Identity +NM_001316690.1:c.902C>T NP_001303619.1:p.Ser301Phe NC_000008.11:60742333:C:T p.(Ser301Phe) NC_000008.11:60742333:C:T p.(Ser301Phe) NC_000008.11:60742333:C:T Identity +NM_001425749.1:c.2668A>T NP_001412678.1:p.Thr890Ser NC_000016.10:81931582:A:T p.(Thr890Ser) NC_000016.10:81931582:A:T p.(Thr890Ser) NC_000016.10:81931582:A:T Identity +NM_001290184.2:c.1553T>G NP_001277113.1:p.Leu518Arg NC_000001.11:160356320:T:G p.(Leu518Arg) NC_000001.11:160356320:T:G p.(Leu518Arg) NC_000001.11:160356320:T:G Identity +NM_003036.4:c.2053C>T NP_003027.1:p.Arg685Trp NC_000001.11:2306630:C:T p.(Arg685Trp) NC_000001.11:2306630:C:T p.(Arg685Trp) NC_000001.11:2306630:C:T Identity +NM_001195227.2:c.125C>T NP_001182156.1:p.Thr42Ile NC_000019.10:49166072:C:T p.(Thr42Ile) NC_000019.10:49166072:C:T p.(Thr42Ile) NC_000019.10:49166072:C:T Identity +NM_001292034.3:c.779C>T NP_001278963.1:p.Pro260Leu NC_000006.12:149378693:C:T p.(Pro260Leu) NC_000006.12:149378693:C:T p.(Pro260Leu) NC_000006.12:149378693:C:T Identity +NM_001220.5:c.1560C>A NP_001211.3:p.Cys520Ter NC_000007.14:44226552:G:T p.(Cys520Ter) NC_000007.14:44226552:G:T p.(Cys520Ter) NC_000007.14:44226552:G:T Identity +NM_003482.4:c.13597G>C NP_003473.3:p.Val4533Leu NC_000012.12:49030966:C:G p.(Val4533Leu) NC_000012.12:49030966:C:G p.(Val4533Leu) NC_000012.12:49030966:C:G Identity +NM_172244.3:c.719G>C NP_758447.1:p.Arg240Thr NC_000005.10:156757723:G:C p.(Arg240Thr) NC_000005.10:156757723:G:C p.(Arg240Thr) NC_000005.10:156757723:G:C Identity +NM_001354666.3:c.1057_1058delinsGA NP_001341595.2:p.Ser353Asp NC_000003.12:12417030:AG:GA p.(Ser353Asp) NC_000003.12:12417030:AG:GA p.(Ser353Asp) NC_000003.12:12417030:AG:GA Identity +NM_001243776.2:c.478G>A NP_001230705.1:p.Val160Ile NC_000011.10:95817786:G:A p.(Val160Ile) NC_000011.10:95817786:G:A p.(Val160Ile) NC_000011.10:95817786:G:A Identity +NM_001396000.1:c.371G>A NP_001382929.1:p.Arg124His NC_000019.10:41892605:G:A p.(Arg124His) NC_000019.10:41892605:G:A p.(Arg124His) NC_000019.10:41892605:G:A Identity +NM_001277115.2:c.1790A>C NP_001264044.1:p.His597Pro NC_000007.14:21588142:A:C p.(His597Pro) NC_000007.14:21588142:A:C p.(His597Pro) NC_000007.14:21588142:A:C Identity +NM_000059.4:c.5842T>C NP_000050.3:p.Cys1948Arg NC_000013.11:32340196:T:C p.(Cys1948Arg) NC_000013.11:32340196:T:C p.(Cys1948Arg) NC_000013.11:32340196:T:C Identity +NM_001411020.1:c.3835C>T NP_001397949.1:p.Arg1279Trp NC_000014.9:50118408:G:A p.(Arg1279Trp) NC_000014.9:50118408:G:A p.(Arg1279Trp) NC_000014.9:50118408:G:A Identity +NM_005908.4:c.2072del NP_005899.3:p.Leu691fs NC_000004.12:102635949:A: p.(Leu691ArgfsTer4) NC_000004.12:102635949:A: p.(Leu691ArgfsTer4) NC_000004.12:102635949:A: Analogous +NM_006739.4:c.1061C>T NP_006730.2:p.Ala354Val NC_000022.11:35412650:C:T p.(Ala354Val) NC_000022.11:35412650:C:T p.(Ala354Val) NC_000022.11:35412650:C:T Identity +NM_001425749.1:c.371C>A NP_001412678.1:p.Ser124Tyr NC_000016.10:81858295:C:A p.(Ser124Tyr) NC_000016.10:81858295:C:A p.(Ser124Tyr) NC_000016.10:81858295:C:A Identity +NM_001278192.2:c.556C>T NP_001265121.1:p.Arg186Cys NC_000011.10:62632728:G:A p.(Arg186Cys) NC_000011.10:62632728:G:A p.(Arg186Cys) NC_000011.10:62632728:G:A Identity +NM_001277115.2:c.8840T>C NP_001264044.1:p.Ile2947Thr NC_000007.14:21750263:T:C p.(Ile2947Thr) NC_000007.14:21750263:T:C p.(Ile2947Thr) NC_000007.14:21750263:T:C Identity +NM_006734.4:c.358G>A NP_006725.3:p.Glu120Lys NC_000006.12:142774380:C:T p.(Glu120Lys) NC_000006.12:142774380:C:T p.(Glu120Lys) NC_000006.12:142774380:C:T Identity +NM_001024847.3:c.458A>G NP_001020018.1:p.Lys153Arg NC_000003.12:30650388:A:G p.(Lys153Arg) NC_000003.12:30650388:A:G p.(Lys153Arg) NC_000003.12:30650388:A:G Identity +NM_001330437.2:c.1228C>G NP_001317366.1:p.Leu410Val NC_000012.12:112486465:C:G p.(Leu410Val) NC_000012.12:112486465:C:G p.(Leu410Val) NC_000012.12:112486465:C:G Identity +NM_001282531.3:c.1135G>A NP_001269460.1:p.Gly379Arg NC_000020.11:50893578:C:T p.(Gly379Arg) NC_000020.11:50893578:C:T p.(Gly379Arg) NC_000020.11:50893578:C:T Identity +NM_020778.5:c.2677A>C NP_065829.4:p.Ser893Arg NC_000015.10:84857414:A:C p.(Ser893Arg) NC_000015.10:84857414:A:C p.(Ser893Arg) NC_000015.10:84857414:A:C Identity +NM_175737.4:c.748_749insCCAT NP_783864.1:p.Tyr250fs NC_000004.12:39407696:T:TCCAT p.(Tyr250SerfsTer35) NC_000004.12:39407696:T:CCAT p.(Tyr250SerfsTer35) NC_000004.12:39407697:TA:CCAT Analogous +NM_001282660.2:c.2417G>C NP_001269589.1:p.Gly806Ala NC_000022.11:40411768:C:G p.(Gly806Ala) NC_000022.11:40411768:C:G p.(Gly806Ala) NC_000022.11:40411768:C:G Identity +NM_001394062.1:c.12787A>G NP_001380991.1:p.Met4263Val NC_000001.11:39368162:A:G p.(Met4263Val) NC_000001.11:39368162:A:G p.(Met4263Val) NC_000001.11:39368162:A:G Identity +NM_006343.3:c.1802_1808del NP_006334.2:p.Val601fs NC_000002.12:112003918:TAATGGA: p.(Val601GlufsTer12) NC_000002.12:112003918:TAATGGA: p.(Val601GlufsTer12) NC_000002.12:112003918:TAATGGA: Analogous +NM_001290307.3:c.1028C>T NP_001277236.1:p.Ala343Val NC_000005.10:138827683:C:T p.(Ala343Val) NC_000005.10:138827683:C:T p.(Ala343Val) NC_000005.10:138827683:C:T Identity +NM_001200001.2:c.3673T>C NP_001186930.1:p.Ser1225Pro NC_000001.11:119935453:A:G p.(Ser1225Pro) NC_000001.11:119935453:A:G p.(Ser1225Pro) NC_000001.11:119935453:A:G Identity +NM_001322903.2:c.176G>A NP_001309832.1:p.Arg59His NC_000020.11:10293172:G:A p.(Arg59His) NC_000020.11:10293172:G:A p.(Arg59His) NC_000020.11:10293172:G:A Identity +NM_178859.4:c.46G>A NP_849190.2:p.Val16Ile NC_000015.10:65050049:G:A p.(Val16Ile) NC_000015.10:65050049:G:A p.(Val16Ile) NC_000015.10:65050049:G:A Identity +NM_001006600.3:c.2480A>C NP_001006600.1:p.Glu827Ala NC_000005.10:66053797:A:C p.(Glu827Ala) NC_000005.10:66053797:A:C p.(Glu827Ala) NC_000005.10:66053797:A:C Identity +NM_020884.7:c.4669G>C NP_065935.4:p.Ala1557Pro NC_000020.11:34999793:G:C p.(Ala1557Pro) NC_000020.11:34999793:G:C p.(Ala1557Pro) NC_000020.11:34999793:G:C Identity +NM_001379291.1:c.2345C>T NP_001366220.1:p.Pro782Leu NC_000019.10:15244466:G:A p.(Pro782Leu) NC_000019.10:15244466:G:A p.(Pro782Leu) NC_000019.10:15244466:G:A Identity +NM_000875.5:c.1480C>T NP_000866.1:p.His494Tyr NC_000015.10:98911331:C:T p.(His494Tyr) NC_000015.10:98911331:C:T p.(His494Tyr) NC_000015.10:98911331:C:T Identity +NM_000720.4:c.5853G>C NP_000711.1:p.Gln1951His NC_000003.12:53808691:G:C p.(Gln1951His) NC_000003.12:53808691:G:C p.(Gln1951His) NC_000003.12:53808691:G:C Identity +NM_001267722.2:c.1747C>T NP_001254651.1:p.Pro583Ser NC_000004.12:56501774:C:T p.(Pro583Ser) NC_000004.12:56501774:C:T p.(Pro583Ser) NC_000004.12:56501774:C:T Identity +NM_000079.4:c.827T>C NP_000070.1:p.Phe276Ser NC_000002.12:174750120:A:G p.(Phe276Ser) NC_000002.12:174750120:A:G p.(Phe276Ser) NC_000002.12:174750120:A:G Identity +NM_001318186.2:c.970G>A NP_001305115.1:p.Ala324Thr NC_000009.12:83971322:C:T p.(Ala324Thr) NC_000009.12:83971322:C:T p.(Ala324Thr) NC_000009.12:83971322:C:T Identity +NM_001017420.3:c.897_898del NP_001017420.1:p.His299fs NC_000008.11:27780207:ATA:A p.(His299GlnfsTer3) NC_000008.11:27780207:ATA:A p.(His299GlnfsTer3) NC_000008.11:27780208:TA: Analogous +NM_006662.3:c.5359A>G NP_006653.2:p.Thr1787Ala NC_000016.10:30724782:A:G p.(Thr1787Ala) NC_000016.10:30724782:A:G p.(Thr1787Ala) NC_000016.10:30724782:A:G Identity +NM_001256105.1:c.17T>C NP_001243034.1:p.Met6Thr NC_000003.12:55480862:A:G p.(Met6Thr) NC_000003.12:55480862:A:G p.(Met6Thr) NC_000003.12:55480862:A:G Identity +NM_001220765.3:c.317G>A NP_001207694.1:p.Gly106Glu NC_000007.14:50376688:G:A p.(Gly106Glu) NC_000007.14:50376688:G:A p.(Gly106Glu) NC_000007.14:50376688:G:A Identity +NM_003737.4:c.5600A>T NP_003728.1:p.Asp1867Val NC_000011.10:6627438:T:A p.(Asp1867Val) NC_000011.10:6627438:T:A p.(Asp1867Val) NC_000011.10:6627438:T:A Identity +NM_000335.5:c.1106T>C NP_000326.2:p.Met369Thr NC_000003.12:38606702:A:G p.(Met369Thr) NC_000003.12:38606702:A:G p.(Met369Thr) NC_000003.12:38606702:A:G Identity +NM_001244580.2:c.4312C>T NP_001231509.1:p.Arg1438Trp NC_000007.14:98937727:C:T p.(Arg1438Trp) NC_000007.14:98937727:C:T p.(Arg1438Trp) NC_000007.14:98937727:C:T Identity +NM_001384158.1:c.61G>A NP_001371087.1:p.Gly21Arg NC_000014.9:91942917:C:T p.(Gly21Arg) NC_000014.9:91942917:C:T p.(Gly21Arg) NC_000014.9:91942917:C:T Identity +NM_000979.4:c.329G>A NP_000970.1:p.Arg110His NC_000019.10:48616170:C:T p.(Arg110His) NC_000019.10:48616170:C:T p.(Arg110His) NC_000019.10:48616170:C:T Identity +NM_138817.3:c.3G>C NP_620172.2:p.Met1Ile NC_000008.11:86230274:C:G p.(Met1Ile) NC_000008.11:86230274:C:G p.Met1? NC_000008.11:86230274:C:G Identity +NM_000487.6:c.412C>G NP_000478.3:p.Pro138Ala NC_000022.11:50627218:G:C p.(Pro138Ala) NC_000022.11:50627218:G:C p.(Pro138Ala) NC_000022.11:50627218:G:C Identity +NM_004304.5:c.2496T>A NP_004295.2:p.Asp832Glu NC_000002.12:29232439:A:T p.(Asp832Glu) NC_000002.12:29232439:A:T p.(Asp832Glu) NC_000002.12:29232439:A:T Identity +NM_006734.4:c.1621A>C NP_006725.3:p.Ile541Leu NC_000006.12:142773117:T:G p.(Ile541Leu) NC_000006.12:142773117:T:G p.(Ile541Leu) NC_000006.12:142773117:T:G Identity +NM_001407571.1:c.3421T>G NP_001394500.1:p.Ser1141Ala NC_000017.11:43091896:A:C p.(Ser1141Ala) NC_000017.11:43091896:A:C p.(Ser1141Ala) NC_000017.11:43091896:A:C Identity +NM_001407041.1:c.632C>T NP_001393970.1:p.Thr211Ile NC_000018.10:51054957:C:T p.(Thr211Ile) NC_000018.10:51054957:C:T p.(Thr211Ile) NC_000018.10:51054957:C:T Identity +NM_001302960.2:c.76C>G NP_001289889.1:p.Pro26Ala NC_000011.10:67483233:C:G p.(Pro26Ala) NC_000011.10:67483233:C:G p.(Pro26Ala) NC_000011.10:67483233:C:G Identity +NM_031935.3:c.2650G>A NP_114141.2:p.Val884Met NC_000001.11:185981060:G:A p.(Val884Met) NC_000001.11:185981060:G:A p.(Val884Met) NC_000001.11:185981060:G:A Identity +NM_001197104.2:c.1003G>A NP_001184033.1:p.Glu335Lys NC_000011.10:118472161:G:A p.(Glu335Lys) NC_000011.10:118472161:G:A p.(Glu335Lys) NC_000011.10:118472161:G:A Identity +NM_014918.5:c.2120G>T NP_055733.2:p.Gly707Val NC_000015.10:101177676:C:A p.(Gly707Val) NC_000015.10:101177676:C:A p.(Gly707Val) NC_000015.10:101177676:C:A Identity +NM_001846.4:c.743C>T NP_001837.2:p.Pro248Leu NC_000013.11:110436284:C:T p.(Pro248Leu) NC_000013.11:110436284:C:T p.(Pro248Leu) NC_000013.11:110436284:C:T Identity +NM_001348181.2:c.1936G>A NP_001335110.1:p.Ala646Thr NC_000002.12:24275815:C:T p.(Ala646Thr) NC_000002.12:24275815:C:T p.(Ala646Thr) NC_000002.12:24275815:C:T Identity +NM_003850.3:c.186ATT[1] NP_003841.1:p.Leu64del NC_000013.11:47996922:AATAAT:AAT p.(Leu64del) NC_000013.11:47996927:T:AAT ERR:Parse ERR:Parse Identity +NM_181776.3:c.34G>C NP_861441.2:p.Gly12Arg NC_000005.10:151347426:C:G p.(Gly12Arg) NC_000005.10:151347426:C:G p.(Gly12Arg) NC_000005.10:151347426:C:G Identity +NM_032119.4:c.3202A>G NP_115495.3:p.Arg1068Gly NC_000005.10:90647676:A:G p.(Arg1068Gly) NC_000005.10:90647676:A:G p.(Arg1068Gly) NC_000005.10:90647676:A:G Identity +NM_012463.4:c.1391C>G NP_036595.2:p.Thr464Ser NC_000012.12:123744660:C:G p.(Thr464Ser) NC_000012.12:123744660:C:G p.(Thr464Ser) NC_000012.12:123744660:C:G Identity +NM_001330311.2:c.323G>A NP_001317240.1:p.Arg108Gln NC_000001.11:1342401:C:T p.(Arg108Gln) NC_000001.11:1342401:C:T p.(Arg108Gln) NC_000001.11:1342401:C:T Identity +NM_006231.4:c.2426A>G NP_006222.2:p.Lys809Arg NC_000012.12:132665343:T:C p.(Lys809Arg) NC_000012.12:132665343:T:C p.(Lys809Arg) NC_000012.12:132665343:T:C Identity +NM_001345868.2:c.811G>A NP_001332797.1:p.Ala271Thr NC_000004.12:44686585:G:A p.(Ala271Thr) NC_000004.12:44686585:G:A p.(Ala271Thr) NC_000004.12:44686585:G:A Identity +NM_001282660.2:c.1354C>T NP_001269589.1:p.Pro452Ser NC_000022.11:40419083:G:A p.(Pro452Ser) NC_000022.11:40419083:G:A p.(Pro452Ser) NC_000022.11:40419083:G:A Identity +NM_001876.4:c.2284A>G NP_001867.2:p.Ile762Val NC_000011.10:68757681:T:C p.(Ile762Val) NC_000011.10:68757681:T:C p.(Ile762Val) NC_000011.10:68757681:T:C Identity +NM_001466.4:c.521C>T NP_001457.1:p.Pro174Leu NC_000017.11:44558208:C:T p.(Pro174Leu) NC_000017.11:44558208:C:T p.(Pro174Leu) NC_000017.11:44558208:C:T Identity +NM_018010.4:c.1181T>C NP_060480.1:p.Ile394Thr NC_000003.12:108162585:A:G p.(Ile394Thr) NC_000003.12:108162585:A:G p.(Ile394Thr) NC_000003.12:108162585:A:G Identity +NM_001172509.2:c.1726C>A NP_001165980.1:p.Pro576Thr NC_000002.12:199308773:G:T p.(Pro576Thr) NC_000002.12:199308773:G:T p.(Pro576Thr) NC_000002.12:199308773:G:T Identity +NM_002471.4:c.2168G>A NP_002462.2:p.Arg723Lys NC_000014.9:23396962:C:T p.(Arg723Lys) NC_000014.9:23396962:C:T p.(Arg723Lys) NC_000014.9:23396962:C:T Identity +NM_000177.5:c.1583A>G NP_000168.1:p.Gln528Arg NC_000009.12:121326524:A:G p.(Gln528Arg) NC_000009.12:121326524:A:G p.(Gln528Arg) NC_000009.12:121326524:A:G Identity +NM_001346897.2:c.436G>A NP_001333826.1:p.Asp146Asn NC_000007.14:55151304:G:A p.(Asp146Asn) NC_000007.14:55151304:G:A p.(Asp146Asn) NC_000007.14:55151304:G:A Identity +NM_000143.4:c.59C>G NP_000134.2:p.Ala20Gly NC_000001.11:241519663:G:C p.(Ala20Gly) NC_000001.11:241519663:G:C p.(Ala20Gly) NC_000001.11:241519663:G:C Identity +NM_000244.4:c.1388T>C NP_000235.3:p.Val463Ala NC_000011.10:64804793:A:G p.(Val463Ala) NC_000011.10:64804793:A:G p.(Val463Ala) NC_000011.10:64804793:A:G Identity +NM_001135599.4:c.722A>T NP_001129071.1:p.His241Leu NC_000001.11:218434208:A:T p.(His241Leu) NC_000001.11:218434208:A:T p.(His241Leu) NC_000001.11:218434208:A:T Identity +NM_001042410.2:c.538T>C NP_001035869.1:p.Cys180Arg NC_000002.12:219232662:T:C p.(Cys180Arg) NC_000002.12:219232662:T:C p.(Cys180Arg) NC_000002.12:219232662:T:C Identity +NM_001370534.1:c.269C>G NP_001357463.1:p.Thr90Ser NC_000016.10:74661180:G:C p.(Thr90Ser) NC_000016.10:74661180:G:C p.(Thr90Ser) NC_000016.10:74661180:G:C Identity +NM_015180.6:c.19561C>G NP_055995.4:p.Leu6521Val NC_000014.9:64218484:C:G p.(Leu6521Val) NC_000014.9:64218484:C:G p.(Leu6521Val) NC_000014.9:64218484:C:G Identity +NM_001406559.1:c.1159G>C NP_001393488.1:p.Asp387His NC_000010.11:86919386:G:C p.(Asp387His) NC_000010.11:86919386:G:C p.(Asp387His) NC_000010.11:86919386:G:C Identity +NM_001369369.1:c.959G>A NP_001356298.1:p.Arg320Gln NC_000017.11:28534361:G:A p.(Arg320Gln) NC_000017.11:28534361:G:A p.(Arg320Gln) NC_000017.11:28534361:G:A Identity +NM_001193307.2:c.914T>C NP_001180236.1:p.Ile305Thr NC_000007.14:93105183:A:G p.(Ile305Thr) NC_000007.14:93105183:A:G p.(Ile305Thr) NC_000007.14:93105183:A:G Identity +NM_004304.5:c.143G>T NP_004295.2:p.Arg48Leu NC_000002.12:29920516:C:A p.(Arg48Leu) NC_000002.12:29920516:C:A p.(Arg48Leu) NC_000002.12:29920516:C:A Identity +NM_001318245.2:c.5885A>T NP_001305174.1:p.Asp1962Val NC_000022.11:25952334:A:T p.(Asp1962Val) NC_000022.11:25952334:A:T p.(Asp1962Val) NC_000022.11:25952334:A:T Identity +NM_020693.4:c.6035G>A NP_065744.3:p.Arg2012Gln NC_000011.10:117428454:C:T p.(Arg2012Gln) NC_000011.10:117428454:C:T p.(Arg2012Gln) NC_000011.10:117428454:C:T Identity +NM_001206389.2:c.74G>C NP_001193318.1:p.Arg25Pro NC_000010.11:101771520:C:G p.(Arg25Pro) NC_000010.11:101771520:C:G p.(Arg25Pro) NC_000010.11:101771520:C:G Identity +NM_001190720.3:c.20C>T NP_001177649.2:p.Pro7Leu NC_000008.11:42290166:C:T p.(Pro7Leu) NC_000008.11:42290166:C:T p.(Pro7Leu) NC_000008.11:42290166:C:T Identity +NM_001136139.4:c.1565A>G NP_001129611.1:p.Lys522Arg NC_000019.10:1615706:T:C p.(Lys522Arg) NC_000019.10:1615706:T:C p.(Lys522Arg) NC_000019.10:1615706:T:C Identity +NM_001316772.1:c.1010G>T NP_001303701.1:p.Arg337Leu NC_000007.14:30616035:G:T p.(Arg337Leu) NC_000007.14:30616035:G:T p.(Arg337Leu) NC_000007.14:30616035:G:T Identity +NM_001258392.3:c.452G>A NP_001245321.1:p.Ser151Asn NC_000011.10:72430314:C:T p.(Ser151Asn) NC_000011.10:72430314:C:T p.(Ser151Asn) NC_000011.10:72430314:C:T Identity +NM_001282531.3:c.2810A>T NP_001269460.1:p.Glu937Val NC_000020.11:50891903:T:A p.(Glu937Val) NC_000020.11:50891903:T:A p.(Glu937Val) NC_000020.11:50891903:T:A Identity +NM_001127208.3:c.4385A>G NP_001120680.1:p.Lys1462Arg NC_000004.12:105272765:A:G p.(Lys1462Arg) NC_000004.12:105272765:A:G p.(Lys1462Arg) NC_000004.12:105272765:A:G Identity +NM_004548.3:c.121C>T NP_004539.1:p.Leu41Phe NC_000016.10:1959744:C:T p.(Leu41Phe) NC_000016.10:1959744:C:T p.(Leu41Phe) NC_000016.10:1959744:C:T Identity +NM_017999.5:c.185A>T NP_060469.4:p.His62Leu NC_000014.9:24147882:A:T p.(His62Leu) NC_000014.9:24147882:A:T p.(His62Leu) NC_000014.9:24147882:A:T Identity +NM_001376.5:c.8425G>A NP_001367.2:p.Ala2809Thr NC_000014.9:102019973:G:A p.(Ala2809Thr) NC_000014.9:102019973:G:A p.(Ala2809Thr) NC_000014.9:102019973:G:A Identity +NM_001256182.2:c.4470C>G NP_001243111.1:p.Asp1490Glu NC_000016.10:89282071:G:C p.(Asp1490Glu) NC_000016.10:89282071:G:C p.(Asp1490Glu) NC_000016.10:89282071:G:C Identity +NM_001024847.3:c.53C>T NP_001020018.1:p.Thr18Met NC_000003.12:30606935:C:T p.(Thr18Met) NC_000003.12:30606935:C:T p.(Thr18Met) NC_000003.12:30606935:C:T Identity +NM_021076.4:c.1339G>A NP_066554.2:p.Val447Met NC_000022.11:29488978:G:A p.(Val447Met) NC_000022.11:29488978:G:A p.(Val447Met) NC_000022.11:29488978:G:A Identity +NM_001844.5:c.1004C>T NP_001835.3:p.Thr335Ile NC_000012.12:47992896:G:A p.(Thr335Ile) NC_000012.12:47992896:G:A p.(Thr335Ile) NC_000012.12:47992896:G:A Identity +NM_001270507.2:c.1084C>T NP_001257436.1:p.Gln362Ter NC_000006.12:137878528:C:T p.(Gln362Ter) NC_000006.12:137878528:C:T p.(Gln362Ter) NC_000006.12:137878528:C:T Identity +NM_001256324.2:c.2416C>G NP_001243253.1:p.Pro806Ala NC_000017.11:50590584:C:G p.(Pro806Ala) NC_000017.11:50590584:C:G p.(Pro806Ala) NC_000017.11:50590584:C:G Identity +NM_001164097.2:c.1664T>C NP_001157569.1:p.Leu555Pro NC_000005.10:83537627:T:C p.(Leu555Pro) NC_000005.10:83537627:T:C p.(Leu555Pro) NC_000005.10:83537627:T:C Identity +NM_000093.5:c.1162A>G NP_000084.3:p.Asn388Asp NC_000009.12:134730472:A:G p.(Asn388Asp) NC_000009.12:134730472:A:G p.(Asn388Asp) NC_000009.12:134730472:A:G Identity +NM_007227.3:c.437G>A NP_009158.3:p.Arg146His NC_000002.12:105242294:G:A p.(Arg146His) NC_000002.12:105242294:G:A p.(Arg146His) NC_000002.12:105242294:G:A Identity +NM_030662.4:c.270G>T NP_109587.1:p.Gln90His NC_000019.10:4117451:C:A p.(Gln90His) NC_000019.10:4117451:C:A p.(Gln90His) NC_000019.10:4117451:C:A Identity +NM_000425.5:c.2216G>A NP_000416.1:p.Arg739Gln NC_000023.11:153866863:C:T p.(Arg739Gln) NC_000023.11:153866863:C:T p.(Arg739Gln) NC_000023.11:153866863:C:T Identity +NM_183075.3:c.143G>T NP_898898.1:p.Trp48Leu NC_000004.12:107931785:G:T p.(Trp48Leu) NC_000004.12:107931785:G:T p.(Trp48Leu) NC_000004.12:107931785:G:T Identity +NM_001258214.1:c.1594G>C NP_001245143.1:p.Glu532Gln NC_000001.11:67372659:G:C p.(Glu532Gln) NC_000001.11:67372659:G:C p.(Glu532Gln) NC_000001.11:67372659:G:C Identity +NM_003108.4:c.697G>A NP_003099.1:p.Asp233Asn NC_000002.12:5693417:G:A p.(Asp233Asn) NC_000002.12:5693417:G:A p.(Asp233Asn) NC_000002.12:5693417:G:A Identity +NM_000760.4:c.1503G>C NP_000751.1:p.Glu501Asp NC_000001.11:36469228:C:G p.(Glu501Asp) NC_000001.11:36469228:C:G p.(Glu501Asp) NC_000001.11:36469228:C:G Identity +NM_001126131.2:c.3328C>A NP_001119603.1:p.His1110Asn NC_000015.10:89318694:G:T p.(His1110Asn) NC_000015.10:89318694:G:T p.(His1110Asn) NC_000015.10:89318694:G:T Identity +NM_015657.4:c.338C>G NP_056472.2:p.Ser113Cys NC_000002.12:215019791:G:C p.(Ser113Cys) NC_000002.12:215019791:G:C p.(Ser113Cys) NC_000002.12:215019791:G:C Identity +NM_001272037.2:c.511G>T NP_001258966.1:p.Val171Leu NC_000021.9:44529872:C:A p.(Val171Leu) NC_000021.9:44529872:C:A p.(Val171Leu) NC_000021.9:44529872:C:A Identity +NM_016239.4:c.2444G>A NP_057323.3:p.Arg815His NC_000017.11:18121243:G:A p.(Arg815His) NC_000017.11:18121243:G:A p.(Arg815His) NC_000017.11:18121243:G:A Identity +NM_001244580.2:c.2786C>T NP_001231509.1:p.Ser929Phe NC_000007.14:98921915:C:T p.(Ser929Phe) NC_000007.14:98921915:C:T p.(Ser929Phe) NC_000007.14:98921915:C:T Identity +NM_001193307.2:c.3278A>G NP_001180236.1:p.Tyr1093Cys NC_000007.14:93102819:T:C p.(Tyr1093Cys) NC_000007.14:93102819:T:C p.(Tyr1093Cys) NC_000007.14:93102819:T:C Identity +NM_005477.3:c.1084C>T NP_005468.1:p.Arg362Cys NC_000015.10:73343509:G:A p.(Arg362Cys) NC_000015.10:73343509:G:A p.(Arg362Cys) NC_000015.10:73343509:G:A Identity +NM_001282750.2:c.859C>A NP_001269679.1:p.Pro287Thr NC_000001.11:172570159:C:A p.(Pro287Thr) NC_000001.11:172570159:C:A p.(Pro287Thr) NC_000001.11:172570159:C:A Identity +NM_000410.4:c.742G>A NP_000401.1:p.Ala248Thr NC_000006.12:26092809:G:A p.(Ala248Thr) NC_000006.12:26092809:G:A p.(Ala248Thr) NC_000006.12:26092809:G:A Identity +NM_001297571.2:c.462CAA[1] NP_001284500.1:p.Asn156del NC_000012.12:6843661:ACAACAA:ACAA p.(Asn156del) NC_000012.12:6843662:C:CAA ERR:Parse ERR:Parse Identity +NM_020778.5:c.-6_17del NP_065829.4:p.Met1fs NC_000015.10:84817439:GGAGGGCGGTGCCATGGGGTCGCGGAGGGC:GGAGGGC p.(Met1ProfsTer16) NC_000015.10:84817439:GGAGGGCGGTGCCATGGGGTCGCGGAGGGC:GGAGGGC p.Met1? NC_000015.10:84817446:GGTGCCATGGGGTCGCGGAGGGC: Analogous +NM_001363711.2:c.1472A>C NP_001350640.1:p.Glu491Ala NC_000015.10:45108148:T:G p.(Glu491Ala) NC_000015.10:45108148:T:G p.(Glu491Ala) NC_000015.10:45108148:T:G Identity +NM_000245.4:c.1892A>G NP_000236.2:p.Asn631Ser NC_000007.14:116757465:A:G p.(Asn631Ser) NC_000007.14:116757465:A:G p.(Asn631Ser) NC_000007.14:116757465:A:G Identity +NM_002949.4:c.371C>T NP_002940.2:p.Ala124Val NC_000017.11:81706930:C:T p.(Ala124Val) NC_000017.11:81706930:C:T p.(Ala124Val) NC_000017.11:81706930:C:T Identity +NM_000116.5:c.776C>T NP_000107.1:p.Ala259Val NC_000023.11:154420733:C:T p.(Ala259Val) NC_000023.11:154420733:C:T p.(Ala259Val) NC_000023.11:154420733:C:T Identity +NM_001308002.3:c.566G>A NP_001294931.1:p.Arg189Gln NC_000005.10:88751879:C:T p.(Arg189Gln) NC_000005.10:88751879:C:T p.(Arg189Gln) NC_000005.10:88751879:C:T Identity +NM_001130991.3:c.494C>T NP_001124463.1:p.Ala165Val NC_000011.10:119054985:G:A p.(Ala165Val) NC_000011.10:119054985:G:A p.(Ala165Val) NC_000011.10:119054985:G:A Identity +NM_001171971.3:c.673G>C NP_001165442.1:p.Val225Leu NC_000010.11:84203012:G:C p.(Val225Leu) NC_000010.11:84203012:G:C p.(Val225Leu) NC_000010.11:84203012:G:C Identity +NM_001197104.2:c.10466C>T NP_001184033.1:p.Thr3489Met NC_000011.10:118506357:C:T p.(Thr3489Met) NC_000011.10:118506357:C:T p.(Thr3489Met) NC_000011.10:118506357:C:T Identity +NM_001114331.3:c.1989_1991del NP_001107803.1:p.Leu664del NC_000016.10:1447664:AGGAG:AG p.(Leu664del) NC_000016.10:1447664:AGGAG:AG p.(Leu664del) NC_000016.10:1447664:AGG: Identity +NM_000222.3:c.1258A>G NP_000213.1:p.Arg420Gly NC_000004.12:54723609:A:G p.(Arg420Gly) NC_000004.12:54723609:A:G p.(Arg420Gly) NC_000004.12:54723609:A:G Identity +NM_001080517.3:c.716C>A NP_001073986.1:p.Ser239Tyr NC_000003.12:9440603:C:A p.(Ser239Tyr) NC_000003.12:9440603:C:A p.(Ser239Tyr) NC_000003.12:9440603:C:A Identity +NM_001160130.2:c.739C>T NP_001153602.1:p.Arg247Ter NC_000006.12:73077443:C:T p.(Arg247Ter) NC_000006.12:73077443:C:T p.(Arg247Ter) NC_000006.12:73077443:C:T Identity +NM_020338.4:c.3073G>A NP_065071.1:p.Asp1025Asn NC_000010.11:79311160:G:A p.(Asp1025Asn) NC_000010.11:79311160:G:A p.(Asp1025Asn) NC_000010.11:79311160:G:A Identity +NM_001321193.3:c.365G>A NP_001308122.1:p.Gly122Glu NC_000003.12:177051565:C:T p.(Gly122Glu) NC_000003.12:177051565:C:T p.(Gly122Glu) NC_000003.12:177051565:C:T Identity +NM_001029882.3:c.2054A>G NP_001025053.1:p.Lys685Arg NC_000001.11:27550061:T:C p.(Lys685Arg) NC_000001.11:27550061:T:C p.(Lys685Arg) NC_000001.11:27550061:T:C Identity +NM_000260.4:c.6068T>A NP_000251.3:p.Leu2023His NC_000011.10:77211167:T:A p.(Leu2023His) NC_000011.10:77211167:T:A p.(Leu2023His) NC_000011.10:77211167:T:A Identity +NM_001006658.3:c.3230T>G NP_001006659.1:p.Leu1077Ter NC_000001.11:207485504:T:G p.(Leu1077Ter) NC_000001.11:207485504:T:G p.(Leu1077Ter) NC_000001.11:207485504:T:G Identity +NM_001099274.3:c.900A>G NP_001092744.1:p.Ile300Met NC_000014.9:24240579:T:C p.(Ile300Met) NC_000014.9:24240579:T:C p.(Ile300Met) NC_000014.9:24240579:T:C Identity +NM_001396000.1:c.2890C>A NP_001382929.1:p.Gln964Lys NC_000019.10:41906768:C:A p.(Gln964Lys) NC_000019.10:41906768:C:A p.(Gln964Lys) NC_000019.10:41906768:C:A Identity +NM_014634.4:c.23A>G NP_055449.1:p.Lys8Arg NC_000022.11:21946025:T:C p.(Lys8Arg) NC_000022.11:21946025:T:C p.(Lys8Arg) NC_000022.11:21946025:T:C Identity +NM_001410908.1:c.3937A>G NP_001397837.1:p.Ser1313Gly NC_000007.14:105110862:A:G p.(Ser1313Gly) NC_000007.14:105110862:A:G p.(Ser1313Gly) NC_000007.14:105110862:A:G Identity +NM_001320099.2:c.296C>T NP_001307028.1:p.Ala99Val NC_000012.12:93679069:C:T p.(Ala99Val) NC_000012.12:93679069:C:T p.(Ala99Val) NC_000012.12:93679069:C:T Identity +NM_030665.4:c.2153C>T NP_109590.3:p.Ala718Val NC_000017.11:17795100:C:T p.(Ala718Val) NC_000017.11:17795100:C:T p.(Ala718Val) NC_000017.11:17795100:C:T Identity +NM_001130991.3:c.1553C>T NP_001124463.1:p.Thr518Ile NC_000011.10:119051146:G:A p.(Thr518Ile) NC_000011.10:119051146:G:A p.(Thr518Ile) NC_000011.10:119051146:G:A Identity +NM_001079821.3:c.977G>C NP_001073289.2:p.Gly326Ala NC_000001.11:247424425:G:C p.(Gly326Ala) NC_000001.11:247424425:G:C p.(Gly326Ala) NC_000001.11:247424425:G:C Identity +NM_001197104.2:c.2852G>A NP_001184033.1:p.Gly951Glu NC_000011.10:118474010:G:A p.(Gly951Glu) NC_000011.10:118474010:G:A p.(Gly951Glu) NC_000011.10:118474010:G:A Identity +NM_001276270.2:c.249dup NP_001263199.1:p.Lys84Ter NC_000003.12:129437805:A:AA p.(Lys84Ter) NC_000003.12:129437805:A:AA p.(Lys84Ter) ERR:SPDI Identity +NM_001351295.2:c.1970C>T NP_001338224.1:p.Ser657Leu NC_000011.10:17428424:G:A p.(Ser657Leu) NC_000011.10:17428424:G:A p.(Ser657Leu) NC_000011.10:17428424:G:A Identity +NM_001410908.1:c.2903A>G NP_001397837.1:p.Glu968Gly NC_000007.14:105107220:A:G p.(Glu968Gly) NC_000007.14:105107220:A:G p.(Glu968Gly) NC_000007.14:105107220:A:G Identity +NM_001135651.3:c.689A>G NP_001129123.1:p.Asn230Ser NC_000002.12:37137015:T:C p.(Asn230Ser) NC_000002.12:37137015:T:C p.(Asn230Ser) NC_000002.12:37137015:T:C Identity +NM_000553.6:c.4288C>G NP_000544.2:p.Leu1430Val NC_000008.11:31173090:C:G p.(Leu1430Val) NC_000008.11:31173090:C:G p.(Leu1430Val) NC_000008.11:31173090:C:G Identity +NM_001166292.2:c.355G>A NP_001159764.1:p.Ala119Thr NC_000001.11:44832251:C:T p.(Ala119Thr) NC_000001.11:44832251:C:T p.(Ala119Thr) NC_000001.11:44832251:C:T Identity +NM_001278463.2:c.1810G>C NP_001265392.1:p.Ala604Pro NC_000012.12:32740198:G:C p.(Ala604Pro) NC_000012.12:32740198:G:C p.(Ala604Pro) NC_000012.12:32740198:G:C Identity +NM_001281737.2:c.1129C>T NP_001268666.1:p.Gln377Ter NC_000004.12:158703575:C:T p.(Gln377Ter) NC_000004.12:158703575:C:T p.(Gln377Ter) NC_000004.12:158703575:C:T Identity +NM_000744.7:c.979G>C NP_000735.1:p.Val327Leu NC_000020.11:63350431:C:G p.(Val327Leu) NC_000020.11:63350431:C:G p.(Val327Leu) NC_000020.11:63350431:C:G Identity +NM_001165412.2:c.1417G>A NP_001158884.1:p.Glu473Lys NC_000004.12:102596256:G:A p.(Glu473Lys) NC_000004.12:102596256:G:A p.(Glu473Lys) NC_000004.12:102596256:G:A Identity +NM_022124.6:c.6450dup NP_071407.4:p.Thr2151fs NC_000010.11:71793377:C:CC p.(Thr2151HisfsTer16) NC_000010.11:71793377:C:CC p.(Thr2151HisfsTer16) ERR:SPDI Analogous +NM_001282660.2:c.1793A>G NP_001269589.1:p.Asn598Ser NC_000022.11:40418644:T:C p.(Asn598Ser) NC_000022.11:40418644:T:C p.(Asn598Ser) NC_000022.11:40418644:T:C Identity +NM_001282933.2:c.2467G>A NP_001269862.1:p.Gly823Arg NC_000020.11:33791418:G:A p.(Gly823Arg) NC_000020.11:33791418:G:A p.(Gly823Arg) NC_000020.11:33791418:G:A Identity +NM_000090.4:c.825G>C NP_000081.2:p.Lys275Asn NC_000002.12:188991029:G:C p.(Lys275Asn) NC_000002.12:188991029:G:C p.(Lys275Asn) NC_000002.12:188991029:G:C Identity +NM_001104631.2:c.1943G>A NP_001098101.1:p.Arg648Gln NC_000005.10:58975726:C:T p.(Arg648Gln) NC_000005.10:58975726:C:T p.(Arg648Gln) NC_000005.10:58975726:C:T Identity +NM_001366574.1:c.770A>G NP_001353503.1:p.Asp257Gly NC_000012.12:88166481:A:G p.(Asp257Gly) NC_000012.12:88166481:A:G p.(Asp257Gly) NC_000012.12:88166481:A:G Identity +NM_001281428.2:c.1363_1364inv NP_001268357.1:p.Phe455Asn NC_000009.12:34512147:TT:AA p.(Phe455Asn) NC_000009.12:34512147:TT:AA p.(Phe455Asn) ERR:SPDI Identity +NM_002048.3:c.842A>G NP_002039.2:p.Glu281Gly NC_000009.12:86945937:T:C p.(Glu281Gly) NC_000009.12:86945937:T:C p.(Glu281Gly) NC_000009.12:86945937:T:C Identity +NM_000535.7:c.1336C>G NP_000526.2:p.Pro446Ala NC_000007.14:5987428:G:C p.(Pro446Ala) NC_000007.14:5987428:G:C p.(Pro446Ala) NC_000007.14:5987428:G:C Identity +NM_001362843.2:c.2786C>A NP_001349772.1:p.Pro929Gln NC_000022.11:41151878:C:A p.(Pro929Gln) NC_000022.11:41151878:C:A p.(Pro929Gln) NC_000022.11:41151878:C:A Identity +NM_000441.2:c.43G>T NP_000432.1:p.Glu15Ter NC_000007.14:107661683:G:T p.(Glu15Ter) NC_000007.14:107661683:G:T p.(Glu15Ter) NC_000007.14:107661683:G:T Identity +NM_001413017.1:c.715del NP_001399946.1:p.Ala239fs NC_000008.11:144516403:CC:C p.(Ala239LeufsTer54) NC_000008.11:144516403:CC:C p.(Ala239LeufsTer54) NC_000008.11:144516403:C: Analogous +NM_016562.4:c.83G>T NP_057646.1:p.Arg28Ile NC_000023.11:12885590:G:T p.(Arg28Ile) NC_000023.11:12885590:G:T p.(Arg28Ile) NC_000023.11:12885590:G:T Identity +NM_001354511.2:c.2285T>C NP_001341440.1:p.Val762Ala NC_000015.10:25354361:A:G p.(Val762Ala) NC_000015.10:25354361:A:G p.(Val762Ala) NC_000015.10:25354361:A:G Identity +NM_001321431.2:c.3820G>C NP_001308360.1:p.Gly1274Arg NC_000019.10:8115532:C:G p.(Gly1274Arg) NC_000019.10:8115532:C:G p.(Gly1274Arg) NC_000019.10:8115532:C:G Identity +NM_000252.3:c.466G>A NP_000243.1:p.Glu156Lys NC_000023.11:150638963:G:A p.(Glu156Lys) NC_000023.11:150638963:G:A p.(Glu156Lys) NC_000023.11:150638963:G:A Identity +NM_000528.4:c.848G>A NP_000519.2:p.Arg283His NC_000019.10:12663377:C:T p.(Arg283His) NC_000019.10:12663377:C:T p.(Arg283His) NC_000019.10:12663377:C:T Identity +NM_001291446.2:c.2453C>A NP_001278375.1:p.Ala818Asp NC_000014.9:21522869:G:T p.(Ala818Asp) NC_000014.9:21522869:G:T p.(Ala818Asp) NC_000014.9:21522869:G:T Identity +NM_001844.5:c.2687C>T NP_001835.3:p.Thr896Ile NC_000012.12:47979556:G:A p.(Thr896Ile) NC_000012.12:47979556:G:A p.(Thr896Ile) NC_000012.12:47979556:G:A Identity +NM_000302.4:c.756C>G NP_000293.2:p.Tyr252Ter NC_000001.11:11957855:C:G p.(Tyr252Ter) NC_000001.11:11957855:C:G p.(Tyr252Ter) NC_000001.11:11957855:C:G Identity +NM_020338.4:c.1555C>G NP_065071.1:p.Pro519Ala NC_000010.11:79298468:C:G p.(Pro519Ala) NC_000010.11:79298468:C:G p.(Pro519Ala) NC_000010.11:79298468:C:G Identity +NM_001375515.1:c.2023G>A NP_001362444.1:p.Val675Ile NC_000004.12:153328610:G:A p.(Val675Ile) NC_000004.12:153328610:G:A p.(Val675Ile) NC_000004.12:153328610:G:A Identity +NM_001346418.1:c.686C>A NP_001333347.1:p.Thr229Lys NC_000006.12:158982632:G:T p.(Thr229Lys) NC_000006.12:158982632:G:T p.(Thr229Lys) NC_000006.12:158982632:G:T Identity +NM_000396.4:c.135dup NP_000387.1:p.Arg46fs NC_000001.11:150806209:A:AA p.(Arg46SerfsTer16) NC_000001.11:150806209:A:AA p.(Arg46SerfsTer16) ERR:SPDI Analogous +NM_012213.3:c.1047T>G NP_036345.2:p.His349Gln NC_000016.10:83915053:T:G p.(His349Gln) NC_000016.10:83915053:T:G p.(His349Gln) NC_000016.10:83915053:T:G Identity +NM_000553.6:c.20A>T NP_000544.2:p.Glu7Val NC_000008.11:31058466:A:T p.(Glu7Val) NC_000008.11:31058466:A:T p.(Glu7Val) NC_000008.11:31058466:A:T Identity +NM_001385907.1:c.37C>T NP_001372836.1:p.Gln13Ter NC_000009.12:32526129:G:A p.(Gln13Ter) NC_000009.12:32526129:G:A p.(Gln13Ter) NC_000009.12:32526129:G:A Identity +NM_004605.2:c.673G>A NP_004596.2:p.Val225Ile NC_000019.10:48596810:G:A p.(Val225Ile) NC_000019.10:48596810:G:A p.(Val225Ile) NC_000019.10:48596810:G:A Identity +NM_001077493.1:c.2600A>G NP_001070961.1:p.Tyr867Cys NC_000010.11:102402275:A:G ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077493.1, alt_ac=NM_001077493.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077493.1 not found +NM_006950.3:c.338C>G NP_008881.2:p.Ser113Cys NC_000023.11:47619390:G:C p.(Ser113Cys) NC_000023.11:47619390:G:C p.(Ser113Cys) NC_000023.11:47619390:G:C Identity +NM_001866.3:c.21C>A NP_001857.1:p.Ser7Arg NC_000023.11:77899573:C:A p.(Ser7Arg) NC_000023.11:77899573:C:A p.(Ser7Arg) NC_000023.11:77899573:C:A Identity +NM_001256317.3:c.458C>G NP_001243246.1:p.Ser153Ter NC_000021.9:42385522:G:C p.(Ser153Ter) NC_000021.9:42385522:G:C p.(Ser153Ter) NC_000021.9:42385522:G:C Identity +NM_175875.5:c.1054G>A NP_787071.3:p.Glu352Lys NC_000019.10:45766904:C:T p.(Glu352Lys) NC_000019.10:45766904:C:T p.(Glu352Lys) NC_000019.10:45766904:C:T Identity +NM_012463.4:c.1046del NP_036595.2:p.Ser349fs NC_000012.12:123743791:G: p.(Ser349MetfsTer9) NC_000012.12:123743791:G: p.(Ser349MetfsTer9) NC_000012.12:123743791:G: Analogous +NM_000720.4:c.3861C>G NP_000711.1:p.Asp1287Glu NC_000003.12:53762011:C:G p.(Asp1287Glu) NC_000003.12:53762011:C:G p.(Asp1287Glu) NC_000003.12:53762011:C:G Identity +NM_001098.3:c.992G>A NP_001089.1:p.Gly331Asp NC_000022.11:41518531:G:A p.(Gly331Asp) NC_000022.11:41518531:G:A p.(Gly331Asp) NC_000022.11:41518531:G:A Identity +NM_000356.4:c.3646A>C NP_000347.2:p.Ser1216Arg NC_000005.10:150396376:A:C p.(Ser1216Arg) NC_000005.10:150396376:A:C p.(Ser1216Arg) NC_000005.10:150396376:A:C Identity +NM_000495.5:c.1075G>C NP_000486.1:p.Gly359Arg NC_000023.11:108586656:G:C p.(Gly359Arg) NC_000023.11:108586656:G:C p.(Gly359Arg) NC_000023.11:108586656:G:C Identity +NM_001256053.2:c.223G>T NP_001242982.1:p.Asp75Tyr NC_000010.11:27100103:C:A p.(Asp75Tyr) NC_000010.11:27100103:C:A p.(Asp75Tyr) NC_000010.11:27100103:C:A Identity +NM_001277115.2:c.6860G>A NP_001264044.1:p.Arg2287His NC_000007.14:21711736:G:A p.(Arg2287His) NC_000007.14:21711736:G:A p.(Arg2287His) NC_000007.14:21711736:G:A Identity +NM_001256182.2:c.5974A>G NP_001243111.1:p.Lys1992Glu NC_000016.10:89280567:T:C p.(Lys1992Glu) NC_000016.10:89280567:T:C p.(Lys1992Glu) NC_000016.10:89280567:T:C Identity +NM_000130.5:c.5383A>C NP_000121.2:p.Thr1795Pro NC_000001.11:169529643:T:G p.(Thr1795Pro) NC_000001.11:169529643:T:G p.(Thr1795Pro) NC_000001.11:169529643:T:G Identity +NM_001177984.3:c.3436G>A NP_001171455.1:p.Val1146Ile NC_000012.12:51769930:G:A p.(Val1146Ile) NC_000012.12:51769930:G:A p.(Val1146Ile) NC_000012.12:51769930:G:A Identity +NM_001369.3:c.3032G>A NP_001360.1:p.Arg1011Gln NC_000005.10:13883045:C:T p.(Arg1011Gln) NC_000005.10:13883045:C:T p.(Arg1011Gln) NC_000005.10:13883045:C:T Identity +NM_015335.5:c.1551A>C NP_056150.1:p.Leu517Phe NC_000012.12:116008861:T:G p.(Leu517Phe) NC_000012.12:116008861:T:G p.(Leu517Phe) NC_000012.12:116008861:T:G Identity +NM_001164507.2:c.24998A>T NP_001157979.2:p.Gln8333Leu NC_000002.12:151492156:T:A p.(Gln8333Leu) NC_000002.12:151492156:T:A p.(Gln8333Leu) NC_000002.12:151492156:T:A Identity +NM_001317061.3:c.307C>G NP_001303990.1:p.Leu103Val NC_000006.12:3085365:C:G p.(Leu103Val) NC_000006.12:3085365:C:G p.(Leu103Val) NC_000006.12:3085365:C:G Identity +NM_000548.5:c.1369T>C NP_000539.2:p.Ser457Pro NC_000016.10:2062978:T:C p.(Ser457Pro) NC_000016.10:2062978:T:C p.(Ser457Pro) NC_000016.10:2062978:T:C Identity +NM_001034194.2:c.269T>C NP_001029366.1:p.Phe90Ser NC_000004.12:121802780:T:C p.(Phe90Ser) NC_000004.12:121802780:T:C p.(Phe90Ser) NC_000004.12:121802780:T:C Identity +NM_004519.4:c.355C>T NP_004510.1:p.Arg119Trp NC_000008.11:132480177:G:A p.(Arg119Trp) NC_000008.11:132480177:G:A p.(Arg119Trp) NC_000008.11:132480177:G:A Identity +NM_000093.5:c.1869A>C NP_000084.3:p.Gln623His NC_000009.12:134756805:A:C p.(Gln623His) NC_000009.12:134756805:A:C p.(Gln623His) NC_000009.12:134756805:A:C Identity +NM_001079846.1:c.5435T>C NP_001073315.1:p.Leu1812Pro NC_000016.10:3729497:A:G p.(Leu1812Pro) NC_000016.10:3729497:A:G p.(Leu1812Pro) NC_000016.10:3729497:A:G Identity +NM_001166496.2:c.1054A>G NP_001159968.1:p.Thr352Ala NC_000001.11:112917351:T:C p.(Thr352Ala) NC_000001.11:112917351:T:C p.(Thr352Ala) NC_000001.11:112917351:T:C Identity +NM_001127660.2:c.1102A>G NP_001121132.1:p.Ile368Val NC_000001.11:12002044:A:G p.(Ile368Val) NC_000001.11:12002044:A:G p.(Ile368Val) NC_000001.11:12002044:A:G Identity +NM_001292034.3:c.565C>T NP_001278963.1:p.Arg189Cys NC_000006.12:149378479:C:T p.(Arg189Cys) NC_000006.12:149378479:C:T p.(Arg189Cys) NC_000006.12:149378479:C:T Identity +NM_001244580.2:c.454C>A NP_001231509.1:p.His152Asn NC_000007.14:98895766:C:A p.(His152Asn) NC_000007.14:98895766:C:A p.(His152Asn) NC_000007.14:98895766:C:A Identity +NM_020928.2:c.2357A>G NP_065979.1:p.Tyr786Cys NC_000005.10:61535594:A:G p.(Tyr786Cys) NC_000005.10:61535594:A:G p.(Tyr786Cys) NC_000005.10:61535594:A:G Identity +NM_001005862.3:c.1307C>T NP_001005862.1:p.Ala436Val NC_000017.11:39715822:C:T p.(Ala436Val) NC_000017.11:39715822:C:T p.(Ala436Val) NC_000017.11:39715822:C:T Identity +NM_031935.3:c.5041C>T NP_114141.2:p.Pro1681Ser NC_000001.11:186016088:C:T p.(Pro1681Ser) NC_000001.11:186016088:C:T p.(Pro1681Ser) NC_000001.11:186016088:C:T Identity +NM_001005862.3:c.3536C>G NP_001005862.1:p.Pro1179Arg NC_000017.11:39727901:C:G p.(Pro1179Arg) NC_000017.11:39727901:C:G p.(Pro1179Arg) NC_000017.11:39727901:C:G Identity +NM_001290048.2:c.1085_1086del NP_001276977.1:p.Pro362fs NC_000011.10:63631438:TG: p.(Pro362ArgfsTer9) NC_000011.10:63631438:TG: p.(Pro362ArgfsTer9) NC_000011.10:63631438:TG: Analogous +NM_001276270.2:c.167_169del NP_001263199.1:p.Lys56del NC_000003.12:129437885:TTTTT:TT p.(Lys56del) NC_000003.12:129437885:TTTTT:TT p.(Lys56del) NC_000003.12:129437885:TTT: Identity +NM_021973.3:c.61G>A NP_068808.1:p.Ala21Thr NC_000004.12:173529228:C:T p.(Ala21Thr) NC_000004.12:173529228:C:T p.(Ala21Thr) NC_000004.12:173529228:C:T Identity +NM_003489.4:c.494G>A NP_003480.2:p.Ser165Asn NC_000021.9:14967698:C:T p.(Ser165Asn) NC_000021.9:14967698:C:T p.(Ser165Asn) NC_000021.9:14967698:C:T Identity +NM_002641.4:c.682A>G NP_002632.1:p.Ile228Val NC_000023.11:15331248:T:C p.(Ile228Val) NC_000023.11:15331248:T:C p.(Ile228Val) NC_000023.11:15331248:T:C Identity +NM_000348.4:c.102del NP_000339.2:p.Lys35fs NC_000002.12:31580798:CCC:CC p.(Lys35SerfsTer6) NC_000002.12:31580798:CCC:CC p.(Lys35SerfsTer6) NC_000002.12:31580798:C: Analogous +NM_001354705.2:c.1117G>C NP_001341634.1:p.Asp373His NC_000012.12:57572081:G:C p.(Asp373His) NC_000012.12:57572081:G:C p.(Asp373His) NC_000012.12:57572081:G:C Identity +NM_001042692.3:c.35_38del NP_001036157.1:p.Asp12fs NC_000002.12:63437538:CTGTCTGT:CTGT p.(Asp12ValfsTer27) NC_000002.12:63437538:CTGTCTGT:CTGT p.(Asp12ValfsTer27) NC_000002.12:63437538:CTGT: Analogous +NM_005554.4:c.1207G>A NP_005545.1:p.Ala403Thr NC_000012.12:52488544:C:T p.(Ala403Thr) NC_000012.12:52488544:C:T p.(Ala403Thr) NC_000012.12:52488544:C:T Identity +NM_005188.4:c.337G>A NP_005179.2:p.Glu113Lys NC_000011.10:119232588:G:A p.(Glu113Lys) NC_000011.10:119232588:G:A p.(Glu113Lys) NC_000011.10:119232588:G:A Identity +NM_006393.3:c.2275G>C NP_006384.1:p.Gly759Arg NC_000010.11:20814009:C:G p.(Gly759Arg) NC_000010.11:20814009:C:G p.(Gly759Arg) NC_000010.11:20814009:C:G Identity +NM_001128844.3:c.794C>A NP_001122316.1:p.Pro265His NC_000019.10:10986937:C:A p.(Pro265His) NC_000019.10:10986937:C:A p.(Pro265His) NC_000019.10:10986937:C:A Identity +NM_001173408.2:c.2416G>A NP_001166879.1:p.Val806Met NC_000002.12:219563618:C:T p.(Val806Met) NC_000002.12:219563618:C:T p.(Val806Met) NC_000002.12:219563618:C:T Identity +NM_000142.5:c.1358A>G NP_000133.1:p.Asn453Ser NC_000004.12:1804914:A:G p.(Asn453Ser) NC_000004.12:1804914:A:G p.(Asn453Ser) NC_000004.12:1804914:A:G Identity +NM_001303401.2:c.230C>T NP_001290330.1:p.Ala77Val NC_000003.12:101727425:C:T p.(Ala77Val) NC_000003.12:101727425:C:T p.(Ala77Val) NC_000003.12:101727425:C:T Identity +NM_001102469.2:c.1027C>T NP_001095939.1:p.His343Tyr NC_000010.11:88778071:C:T p.(His343Tyr) NC_000010.11:88778071:C:T p.(His343Tyr) NC_000010.11:88778071:C:T Identity +NM_001042437.2:c.85C>T NP_001035902.1:p.Arg29Ter NC_000002.12:85863413:G:A p.(Arg29Ter) NC_000002.12:85863413:G:A p.(Arg29Ter) NC_000002.12:85863413:G:A Identity +NM_001135659.3:c.1990G>A NP_001129131.1:p.Gly664Ser NC_000002.12:50538525:C:T p.(Gly664Ser) NC_000002.12:50538525:C:T p.(Gly664Ser) NC_000002.12:50538525:C:T Identity +NM_001413017.1:c.3239G>C NP_001399946.1:p.Gly1080Ala NC_000008.11:144511524:C:G p.(Gly1080Ala) NC_000008.11:144511524:C:G p.(Gly1080Ala) NC_000008.11:144511524:C:G Identity +NM_000416.3:c.74G>T NP_000407.1:p.Gly25Val NC_000006.12:137219253:C:A p.(Gly25Val) NC_000006.12:137219253:C:A p.(Gly25Val) NC_000006.12:137219253:C:A Identity +NM_001142864.4:c.7150G>A NP_001136336.2:p.Gly2384Ser NC_000016.10:88716098:C:T p.(Gly2384Ser) NC_000016.10:88716098:C:T p.(Gly2384Ser) NC_000016.10:88716098:C:T Identity +NM_001105206.3:c.3572A>C NP_001098676.2:p.His1191Pro NC_000006.12:112133472:T:G p.(His1191Pro) NC_000006.12:112133472:T:G p.(His1191Pro) NC_000006.12:112133472:T:G Identity +NM_000419.5:c.2172GAA[2] NP_000410.2:p.Lys726del NC_000017.11:44377704:TTCTTCTTC:TTCTTC p.(Lys726del) NC_000017.11:44377712:C:TTCTTC ERR:Parse ERR:Parse Identity +NM_001159291.2:c.2159T>C NP_001152763.1:p.Ile720Thr NC_000006.12:109446299:A:G p.(Ile720Thr) NC_000006.12:109446299:A:G p.(Ile720Thr) NC_000006.12:109446299:A:G Identity +NM_001142966.3:c.962T>A NP_001136438.1:p.Ile321Asn NC_000018.10:21440280:T:A p.(Ile321Asn) NC_000018.10:21440280:T:A p.(Ile321Asn) NC_000018.10:21440280:T:A Identity +NM_000988.5:c.332G>A NP_000979.1:p.Arg111Gln NC_000017.11:43002752:G:A p.(Arg111Gln) NC_000017.11:43002752:G:A p.(Arg111Gln) NC_000017.11:43002752:G:A Identity +NM_000257.4:c.4424G>C NP_000248.2:p.Arg1475Pro NC_000014.9:23417247:C:G p.(Arg1475Pro) NC_000014.9:23417247:C:G p.(Arg1475Pro) NC_000014.9:23417247:C:G Identity +NM_001100112.2:c.3074C>A NP_001093582.1:p.Thr1025Asn NC_000017.11:10529606:G:T p.(Thr1025Asn) NC_000017.11:10529606:G:T p.(Thr1025Asn) NC_000017.11:10529606:G:T Identity +NM_015335.5:c.3743C>G NP_056150.1:p.Ser1248Cys NC_000012.12:115991210:G:C p.(Ser1248Cys) NC_000012.12:115991210:G:C p.(Ser1248Cys) NC_000012.12:115991210:G:C Identity +NM_001035.3:c.6873C>A NP_001026.2:p.Asn2291Lys NC_000001.11:237638436:C:A p.(Asn2291Lys) NC_000001.11:237638436:C:A p.(Asn2291Lys) NC_000001.11:237638436:C:A Identity +NM_001290307.3:c.760G>A NP_001277236.1:p.Gly254Ser NC_000005.10:138824700:G:A p.(Gly254Ser) NC_000005.10:138824700:G:A p.(Gly254Ser) NC_000005.10:138824700:G:A Identity +NM_001130144.3:c.1586C>T NP_001123616.1:p.Pro529Leu NC_000011.10:65551436:G:A p.(Pro529Leu) NC_000011.10:65551436:G:A p.(Pro529Leu) NC_000011.10:65551436:G:A Identity +NM_001130009.3:c.2624dup NP_001123481.3:p.Ser876fs NC_000002.12:17781835:T:TT p.(Ser876GlufsTer7) NC_000002.12:17781835:T:TT p.(Ser876GlufsTer7) ERR:SPDI Analogous +NM_001244580.2:c.10034C>T NP_001231509.1:p.Ala3345Val NC_000007.14:98994614:C:T p.(Ala3345Val) NC_000007.14:98994614:C:T p.(Ala3345Val) NC_000007.14:98994614:C:T Identity +NM_030787.4:c.1229G>A NP_110414.1:p.Gly410Glu NC_000001.11:197002562:G:A p.(Gly410Glu) NC_000001.11:197002562:G:A p.(Gly410Glu) NC_000001.11:197002562:G:A Identity +NM_001012614.2:c.1072G>A NP_001012632.1:p.Val358Ile NC_000004.12:1212946:C:T p.(Val358Ile) NC_000004.12:1212946:C:T p.(Val358Ile) NC_000004.12:1212946:C:T Identity +NM_000271.5:c.2201G>C NP_000262.2:p.Ser734Thr NC_000018.10:23543498:C:G p.(Ser734Thr) NC_000018.10:23543498:C:G p.(Ser734Thr) NC_000018.10:23543498:C:G Identity +NM_000393.5:c.3802G>T NP_000384.2:p.Val1268Phe NC_000002.12:189039394:C:A p.(Val1268Phe) NC_000002.12:189039394:C:A p.(Val1268Phe) NC_000002.12:189039394:C:A Identity +NM_001199397.3:c.3584A>T NP_001186326.1:p.Asp1195Val NC_000004.12:169400650:T:A p.(Asp1195Val) NC_000004.12:169400650:T:A p.(Asp1195Val) NC_000004.12:169400650:T:A Identity +NM_018646.6:c.2153C>T NP_061116.5:p.Ser718Phe NC_000007.14:142871851:G:A p.(Ser718Phe) NC_000007.14:142871851:G:A p.(Ser718Phe) NC_000007.14:142871851:G:A Identity +NM_001256071.3:c.10403C>T NP_001243000.2:p.Ala3468Val NC_000017.11:80353038:C:T p.(Ala3468Val) NC_000017.11:80353038:C:T p.(Ala3468Val) NC_000017.11:80353038:C:T Identity +NM_000304.4:c.64T>C NP_000295.1:p.Ser22Pro NC_000017.11:15260663:A:G p.(Ser22Pro) NC_000017.11:15260663:A:G p.(Ser22Pro) NC_000017.11:15260663:A:G Identity +NM_001164507.2:c.18423T>A NP_001157979.2:p.Asp6141Glu NC_000002.12:151565091:A:T p.(Asp6141Glu) NC_000002.12:151565091:A:T p.(Asp6141Glu) NC_000002.12:151565091:A:T Identity +LRG_1345t1:c.349C>T LRG_1345p1:p.Arg117Cys NC_000017.11:41624160:G:A ERR:Data provider error: ValueError: Transcript LRG_1345t1 not found ERR:Data provider error: ValueError: Transcript LRG_1345t1 not found ERR:AlignmentMapper(tx_ac=LRG_1345t1, alt_ac=LRG_1345t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1345t1, alt_ac=LRG_1345t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1345t1 not found +NM_001346279.2:c.3370G>C NP_001333208.1:p.Gly1124Arg NC_000011.10:10779024:G:C p.(Gly1124Arg) NC_000011.10:10779024:G:C p.(Gly1124Arg) NC_000011.10:10779024:G:C Identity +NM_015180.6:c.15400C>T NP_055995.4:p.Arg5134Cys NC_000014.9:64143864:C:T p.(Arg5134Cys) NC_000014.9:64143864:C:T p.(Arg5134Cys) NC_000014.9:64143864:C:T Identity +NM_000795.4:c.449G>A NP_000786.1:p.Arg150His NC_000011.10:113416945:C:T p.(Arg150His) NC_000011.10:113416945:C:T p.(Arg150His) NC_000011.10:113416945:C:T Identity +NM_198578.4:c.2262T>A NP_940980.4:p.Ser754Arg NC_000012.12:40283894:T:A p.(Ser754Arg) NC_000012.12:40283894:T:A p.(Ser754Arg) NC_000012.12:40283894:T:A Identity +NM_000130.5:c.112G>T NP_000121.2:p.Ala38Ser NC_000001.11:169586274:C:A p.(Ala38Ser) NC_000001.11:169586274:C:A p.(Ala38Ser) NC_000001.11:169586274:C:A Identity +NM_004429.5:c.725C>T NP_004420.1:p.Ala242Val NC_000023.11:68840337:C:T p.(Ala242Val) NC_000023.11:68840337:C:T p.(Ala242Val) NC_000023.11:68840337:C:T Identity +NM_001308176.2:c.1810G>A NP_001295105.1:p.Gly604Arg NC_000018.10:27985599:C:T p.(Gly604Arg) NC_000018.10:27985599:C:T p.(Gly604Arg) NC_000018.10:27985599:C:T Identity +NM_000301.5:c.1385T>C NP_000292.1:p.Val462Ala NC_000006.12:160731178:T:C p.(Val462Ala) NC_000006.12:160731178:T:C p.(Val462Ala) NC_000006.12:160731178:T:C Identity +NM_001042494.2:c.535A>G NP_001035959.1:p.Met179Val NC_000015.10:34256261:T:C p.(Met179Val) NC_000015.10:34256261:T:C p.(Met179Val) NC_000015.10:34256261:T:C Identity +NM_001278055.2:c.1735C>A NP_001264984.1:p.Gln579Lys NC_000013.11:23353793:G:T p.(Gln579Lys) NC_000013.11:23353793:G:T p.(Gln579Lys) NC_000013.11:23353793:G:T Identity +NM_001286577.2:c.1616A>C NP_001273506.1:p.His539Pro NC_000011.10:74114497:T:G p.(His539Pro) NC_000011.10:74114497:T:G p.(His539Pro) NC_000011.10:74114497:T:G Identity +NM_000090.4:c.815A>G NP_000081.2:p.Asn272Ser NC_000002.12:188991019:A:G p.(Asn272Ser) NC_000002.12:188991019:A:G p.(Asn272Ser) NC_000002.12:188991019:A:G Identity +NM_001287758.2:c.1436G>T NP_001274687.1:p.Gly479Val NC_000023.11:108188667:C:A p.(Gly479Val) NC_000023.11:108188667:C:A p.(Gly479Val) NC_000023.11:108188667:C:A Identity +NM_000506.5:c.1745G>A NP_000497.1:p.Trp582Ter NC_000011.10:46739283:G:A p.(Trp582Ter) NC_000011.10:46739283:G:A p.(Trp582Ter) NC_000011.10:46739283:G:A Identity +NM_022788.5:c.13G>A NP_073625.1:p.Asp5Asn NC_000003.12:151338832:C:T p.(Asp5Asn) NC_000003.12:151338832:C:T p.(Asp5Asn) NC_000003.12:151338832:C:T Identity +NM_000130.5:c.22C>T NP_000121.2:p.Leu8Phe NC_000001.11:169586364:G:A p.(Leu8Phe) NC_000001.11:169586364:G:A p.(Leu8Phe) NC_000001.11:169586364:G:A Identity +NM_001113378.2:c.560C>G NP_001106849.1:p.Thr187Ser NC_000015.10:89263916:C:G p.(Thr187Ser) NC_000015.10:89263916:C:G p.(Thr187Ser) NC_000015.10:89263916:C:G Identity +NM_001130144.3:c.3385G>A NP_001123616.1:p.Glu1129Lys NC_000011.10:65540012:C:T p.(Glu1129Lys) NC_000011.10:65540012:C:T p.(Glu1129Lys) NC_000011.10:65540012:C:T Identity +NM_001136139.4:c.124G>C NP_001129611.1:p.Gly42Arg NC_000019.10:1646375:C:G p.(Gly42Arg) NC_000019.10:1646375:C:G p.(Gly42Arg) NC_000019.10:1646375:C:G Identity +NM_001136139.4:c.254A>C NP_001129611.1:p.His85Pro NC_000019.10:1632081:T:G p.(His85Pro) NC_000019.10:1632081:T:G p.(His85Pro) NC_000019.10:1632081:T:G Identity +NM_001369.3:c.9354dup NP_001360.1:p.Lys3119fs NC_000005.10:13776457:GGG:GGGG p.(Lys3119GlnfsTer9) NC_000005.10:13776457:GGG:GGGG p.(Lys3119GlnfsTer9) ERR:SPDI Analogous +NM_001410831.1:c.116A>T NP_001397760.1:p.Tyr39Phe NC_000020.11:25425250:A:T p.(Tyr39Phe) NC_000020.11:25425250:A:T p.(Tyr39Phe) NC_000020.11:25425250:A:T Identity +NM_004459.7:c.4033A>G NP_004450.3:p.Lys1345Glu NC_000017.11:67911538:A:G p.(Lys1345Glu) NC_000017.11:67911538:A:G p.(Lys1345Glu) NC_000017.11:67911538:A:G Identity +NM_016350.5:c.3107C>T NP_057434.4:p.Ser1036Phe NC_000014.9:50743470:G:A p.(Ser1036Phe) NC_000014.9:50743470:G:A p.(Ser1036Phe) NC_000014.9:50743470:G:A Identity +NM_000094.4:c.5989G>A NP_000085.1:p.Gly1997Ser NC_000003.12:48575529:C:T p.(Gly1997Ser) NC_000003.12:48575529:C:T p.(Gly1997Ser) NC_000003.12:48575529:C:T Identity +NM_000936.4:c.562C>T NP_000927.1:p.Arg188Cys NC_000010.11:116553828:C:T p.(Arg188Cys) NC_000010.11:116553828:C:T p.(Arg188Cys) NC_000010.11:116553828:C:T Identity +NM_001318391.2:c.215C>A NP_001305320.1:p.Pro72His NC_000016.10:69139851:C:A p.(Pro72His) NC_000016.10:69139851:C:A p.(Pro72His) NC_000016.10:69139851:C:A Identity +NM_005560.6:c.9439G>T NP_005551.3:p.Val3147Phe NC_000020.11:62312237:C:A p.(Val3147Phe) NC_000020.11:62312237:C:A p.(Val3147Phe) NC_000020.11:62312237:C:A Identity +NM_000401.3:c.1898A>G NP_000392.3:p.Tyr633Cys NC_000011.10:44232488:A:G p.(Tyr633Cys) NC_000011.10:44232488:A:G p.(Tyr633Cys) NC_000011.10:44232488:A:G Identity +NM_001037131.3:c.2479C>T NP_001032208.1:p.Pro827Ser NC_000002.12:236124026:C:T p.(Pro827Ser) NC_000002.12:236124026:C:T p.(Pro827Ser) NC_000002.12:236124026:C:T Identity +NM_001278431.2:c.239C>G NP_001265360.1:p.Pro80Arg NC_000011.10:119339823:G:C p.(Pro80Arg) NC_000011.10:119339823:G:C p.(Pro80Arg) NC_000011.10:119339823:G:C Identity +NM_000092.5:c.304G>A NP_000083.3:p.Ala102Thr NC_000002.12:227121036:C:T p.(Ala102Thr) NC_000002.12:227121036:C:T p.(Ala102Thr) NC_000002.12:227121036:C:T Identity +NM_001321309.2:c.433A>G NP_001308238.1:p.Lys145Glu NC_000003.12:123734034:T:C p.(Lys145Glu) NC_000003.12:123734034:T:C p.(Lys145Glu) NC_000003.12:123734034:T:C Identity +NM_001287758.2:c.1106C>T NP_001274687.1:p.Pro369Leu NC_000023.11:108192546:G:A p.(Pro369Leu) NC_000023.11:108192546:G:A p.(Pro369Leu) NC_000023.11:108192546:G:A Identity +NM_003059.3:c.43G>A NP_003050.2:p.Gly15Arg NC_000005.10:132294658:G:A p.(Gly15Arg) NC_000005.10:132294658:G:A p.(Gly15Arg) NC_000005.10:132294658:G:A Identity +NM_006361.6:c.647_650dup NP_006352.2:p.Lys218fs NC_000017.11:48726994:CGGCCG:CGGCCGGCCG p.(Lys218ProfsTer22) NC_000017.11:48726994:CGGCCG:CGGCCGGCCG p.(Lys218ProfsTer22) ERR:SPDI Analogous +NM_001018088.3:c.8030C>T NP_001018098.1:p.Pro2677Leu NC_000015.10:61917365:G:A p.(Pro2677Leu) NC_000015.10:61917365:G:A p.(Pro2677Leu) NC_000015.10:61917365:G:A Identity +NM_001377273.1:c.2900T>C NP_001364202.1:p.Met967Thr NC_000012.12:21845798:A:G p.(Met967Thr) NC_000012.12:21845798:A:G p.(Met967Thr) NC_000012.12:21845798:A:G Identity +NM_152281.3:c.483del NP_689494.3:p.Lys161fs NC_000001.11:170542551:AAA:AA p.(Lys161AsnfsTer23) NC_000001.11:170542551:AAA:AA p.(Lys161AsnfsTer23) NC_000001.11:170542553:A: Analogous +NM_001031737.3:c.1304G>A NP_001026907.2:p.Ser435Asn NC_000016.10:722782:C:T p.(Ser435Asn) NC_000016.10:722782:C:T p.(Ser435Asn) NC_000016.10:722782:C:T Identity +NM_017780.4:c.6001G>A NP_060250.2:p.Ala2001Thr NC_000008.11:60852603:G:A p.(Ala2001Thr) NC_000008.11:60852603:G:A p.(Ala2001Thr) NC_000008.11:60852603:G:A Identity +NM_002187.3:c.507dup NP_002178.2:p.Cys170fs NC_000005.10:159320495:C:CC p.(Cys170ValfsTer19) NC_000005.10:159320495:C:CC p.(Cys170ValfsTer19) ERR:SPDI Analogous +NM_001330384.2:c.517A>G NP_001317313.1:p.Ile173Val NC_000019.10:15267457:T:C p.(Ile173Val) NC_000019.10:15267457:T:C p.(Ile173Val) NC_000019.10:15267457:T:C Identity +NM_005450.6:c.247C>T NP_005441.1:p.Pro83Ser NC_000017.11:56594469:C:T p.(Pro83Ser) NC_000017.11:56594469:C:T p.(Pro83Ser) NC_000017.11:56594469:C:T Identity +NM_015378.4:c.7955T>C NP_056193.2:p.Met2652Thr NC_000001.11:12323744:T:C p.(Met2652Thr) NC_000001.11:12323744:T:C p.(Met2652Thr) NC_000001.11:12323744:T:C Identity +NM_170606.3:c.9371G>A NP_733751.2:p.Ser3124Asn NC_000007.14:152174133:C:T p.(Ser3124Asn) NC_000007.14:152174133:C:T p.(Ser3124Asn) NC_000007.14:152174133:C:T Identity +NM_001283050.2:c.709G>A NP_001269979.1:p.Gly237Arg NC_000021.9:44231432:C:T p.(Gly237Arg) NC_000021.9:44231432:C:T p.(Gly237Arg) NC_000021.9:44231432:C:T Identity +NM_001200001.2:c.2762A>G NP_001186930.1:p.Gln921Arg NC_000001.11:119941744:T:C p.(Gln921Arg) NC_000001.11:119941744:T:C p.(Gln921Arg) NC_000001.11:119941744:T:C Identity +NM_017890.5:c.4975A>G NP_060360.3:p.Thr1659Ala NC_000008.11:99556603:A:G p.(Thr1659Ala) NC_000008.11:99556603:A:G p.(Thr1659Ala) NC_000008.11:99556603:A:G Identity +NM_001406506.1:c.916C>G NP_001393435.1:p.Pro306Ala NC_000018.10:31080270:G:C p.(Pro306Ala) NC_000018.10:31080270:G:C p.(Pro306Ala) NC_000018.10:31080270:G:C Identity +NM_000094.4:c.2125G>A NP_000085.1:p.Val709Ile NC_000003.12:48589643:C:T p.(Val709Ile) NC_000003.12:48589643:C:T p.(Val709Ile) NC_000003.12:48589643:C:T Identity +NM_001256876.3:c.2980C>T NP_001243805.1:p.Leu994Phe NC_000009.12:731240:C:T p.(Leu994Phe) NC_000009.12:731240:C:T p.(Leu994Phe) NC_000009.12:731240:C:T Identity +NM_001411101.1:c.1647_1657del NP_001398030.1:p.Leu550fs NC_000017.11:82900694:ACCACCTGGTTACCA:ACCA p.(Leu550GlufsTer94) NC_000017.11:82900694:ACCACCTGGTTACCA:ACCA p.(Leu550GlufsTer94) NC_000017.11:82900698:CCTGGTTACCA: Analogous +NM_001136139.4:c.1406C>A NP_001129611.1:p.Pro469Gln NC_000019.10:1619154:G:T p.(Pro469Gln) NC_000019.10:1619154:G:T p.(Pro469Gln) NC_000019.10:1619154:G:T Identity +NM_001369.3:c.3829A>T NP_001360.1:p.Ile1277Phe NC_000005.10:13870771:T:A p.(Ile1277Phe) NC_000005.10:13870771:T:A p.(Ile1277Phe) NC_000005.10:13870771:T:A Identity +NM_001270782.2:c.10C>G NP_001257711.1:p.Leu4Val NC_000010.11:58385556:C:G p.(Leu4Val) NC_000010.11:58385556:C:G p.(Leu4Val) NC_000010.11:58385556:C:G Identity +NM_001321309.2:c.4525T>C NP_001308238.1:p.Phe1509Leu NC_000003.12:123629534:A:G p.(Phe1509Leu) NC_000003.12:123629534:A:G p.(Phe1509Leu) NC_000003.12:123629534:A:G Identity +NM_000484.4:c.1646A>G NP_000475.1:p.Tyr549Cys NC_000021.9:25954630:T:C p.(Tyr549Cys) NC_000021.9:25954630:T:C p.(Tyr549Cys) NC_000021.9:25954630:T:C Identity +NM_001363711.2:c.4138T>C NP_001350640.1:p.Ser1380Pro NC_000015.10:45095537:A:G p.(Ser1380Pro) NC_000015.10:45095537:A:G p.(Ser1380Pro) NC_000015.10:45095537:A:G Identity +NM_001122608.3:c.65C>T NP_001116080.1:p.Pro22Leu NC_000023.11:11112124:C:T p.(Pro22Leu) NC_000023.11:11112124:C:T p.(Pro22Leu) NC_000023.11:11112124:C:T Identity +NM_001035.3:c.4331G>T NP_001026.2:p.Gly1444Val NC_000001.11:237593530:G:T p.(Gly1444Val) NC_000001.11:237593530:G:T p.(Gly1444Val) NC_000001.11:237593530:G:T Identity +NM_001256053.2:c.2033A>T NP_001242982.1:p.Gln678Leu NC_000010.11:27043550:T:A p.(Gln678Leu) NC_000010.11:27043550:T:A p.(Gln678Leu) NC_000010.11:27043550:T:A Identity +NM_001411067.1:c.723_724del NP_001397996.1:p.Lys242fs NC_000017.11:8237442:TCT:T p.(Lys242SerfsTer9) NC_000017.11:8237442:TCT:T p.(Lys242SerfsTer9) NC_000017.11:8237442:TC: Analogous +NM_022042.4:c.713G>A NP_071325.2:p.Arg238Gln NC_000004.12:990225:C:T p.(Arg238Gln) NC_000004.12:990225:C:T p.(Arg238Gln) NC_000004.12:990225:C:T Identity +NM_002772.3:c.498C>G NP_002763.3:p.Asp166Glu NC_000021.9:18379316:G:C p.(Asp166Glu) NC_000021.9:18379316:G:C p.(Asp166Glu) NC_000021.9:18379316:G:C Identity +NM_001384474.1:c.460del NP_001371403.1:p.Gln154fs NC_000018.10:46639666:GG:G p.(Gln154SerfsTer30) NC_000018.10:46639666:GG:G p.(Gln154SerfsTer30) NC_000018.10:46639666:G: Analogous +NM_000059.4:c.6297A>T NP_000050.3:p.Arg2099Ser NC_000013.11:32340651:A:T p.(Arg2099Ser) NC_000013.11:32340651:A:T p.(Arg2099Ser) NC_000013.11:32340651:A:T Identity +NM_001193307.2:c.3988G>T NP_001180236.1:p.Glu1330Ter NC_000007.14:93102109:C:A p.(Glu1330Ter) NC_000007.14:93102109:C:A p.(Glu1330Ter) NC_000007.14:93102109:C:A Identity +NM_001350888.2:c.1798C>T NP_001337817.1:p.Arg600Trp NC_000014.9:96483111:C:T p.(Arg600Trp) NC_000014.9:96483111:C:T p.(Arg600Trp) NC_000014.9:96483111:C:T Identity +NM_000395.3:c.2224C>A NP_000386.1:p.Pro742Thr NC_000022.11:36938031:C:A p.(Pro742Thr) NC_000022.11:36938031:C:A p.(Pro742Thr) NC_000022.11:36938031:C:A Identity +NM_001362884.2:c.1394G>T NP_001349813.1:p.Arg465Leu NC_000008.11:20250118:C:A p.(Arg465Leu) NC_000008.11:20250118:C:A p.(Arg465Leu) NC_000008.11:20250118:C:A Identity +NM_001845.6:c.2249T>C NP_001836.3:p.Ile750Thr NC_000013.11:110179365:A:G p.(Ile750Thr) NC_000013.11:110179365:A:G p.(Ile750Thr) NC_000013.11:110179365:A:G Identity +NM_001256053.2:c.3137A>G NP_001242982.1:p.Lys1046Arg NC_000010.11:27035309:T:C p.(Lys1046Arg) NC_000010.11:27035309:T:C p.(Lys1046Arg) NC_000010.11:27035309:T:C Identity +NM_001017995.3:c.2243A>T NP_001017995.1:p.Gln748Leu NC_000005.10:172338861:T:A p.(Gln748Leu) NC_000005.10:172338861:T:A p.(Gln748Leu) NC_000005.10:172338861:T:A Identity +NM_138386.3:c.1309C>T NP_612395.2:p.Arg437Cys NC_000004.12:163129072:G:A p.(Arg437Cys) NC_000004.12:163129072:G:A p.(Arg437Cys) NC_000004.12:163129072:G:A Identity +NM_001363711.2:c.1235A>C NP_001350640.1:p.Asp412Ala NC_000015.10:45108951:T:G p.(Asp412Ala) NC_000015.10:45108951:T:G p.(Asp412Ala) NC_000015.10:45108951:T:G Identity +NM_001321727.1:c.1159C>T NP_001308656.1:p.Pro387Ser NC_000002.12:74532832:C:T p.(Pro387Ser) NC_000002.12:74532832:C:T p.(Pro387Ser) NC_000002.12:74532832:C:T Identity +NM_001122633.3:c.3025A>C NP_001116105.2:p.Lys1009Gln NC_000002.12:210642548:A:C p.(Lys1009Gln) NC_000002.12:210642548:A:C p.(Lys1009Gln) NC_000002.12:210642548:A:C Identity +NM_152424.4:c.3151G>A NP_689637.3:p.Val1051Met NC_000023.11:64190135:C:T p.(Val1051Met) NC_000023.11:64190135:C:T p.(Val1051Met) NC_000023.11:64190135:C:T Identity +NM_001287489.2:c.3745C>T NP_001274418.1:p.Arg1249Trp NC_000002.12:26472637:G:A p.(Arg1249Trp) NC_000002.12:26472637:G:A p.(Arg1249Trp) NC_000002.12:26472637:G:A Identity +NM_001163812.2:c.1387C>G NP_001157284.1:p.Arg463Gly NC_000010.11:100989786:C:G p.(Arg463Gly) NC_000010.11:100989786:C:G p.(Arg463Gly) NC_000010.11:100989786:C:G Identity +NM_000130.5:c.2021del NP_000121.2:p.Lys674fs NC_000001.11:169543068:TTTTT:TTTT p.(Lys674SerfsTer2) NC_000001.11:169543068:TTTTT:TTTT p.(Lys674SerfsTer2) NC_000001.11:169543068:T: Analogous +NM_001113378.2:c.2747T>G NP_001106849.1:p.Phe916Cys NC_000015.10:89299909:T:G p.(Phe916Cys) NC_000015.10:89299909:T:G p.(Phe916Cys) NC_000015.10:89299909:T:G Identity +NM_001805.4:c.772G>A NP_001796.2:p.Asp258Asn NC_000014.9:23117560:C:T p.(Asp258Asn) NC_000014.9:23117560:C:T p.(Asp258Asn) NC_000014.9:23117560:C:T Identity +NM_014727.3:c.6733G>A NP_055542.1:p.Val2245Met NC_000019.10:35733281:G:A p.(Val2245Met) NC_000019.10:35733281:G:A p.(Val2245Met) NC_000019.10:35733281:G:A Identity +NM_152594.3:c.88G>A NP_689807.1:p.Gly30Arg NC_000015.10:38299427:G:A p.(Gly30Arg) NC_000015.10:38299427:G:A p.(Gly30Arg) NC_000015.10:38299427:G:A Identity +NM_001386500.1:c.5480A>G NP_001373429.1:p.Asn1827Ser NC_000001.11:11130661:T:C p.(Asn1827Ser) NC_000001.11:11130661:T:C p.(Asn1827Ser) NC_000001.11:11130661:T:C Identity +NM_000238.4:c.38C>T NP_000229.1:p.Thr13Ile NC_000007.14:150977875:G:A p.(Thr13Ile) NC_000007.14:150977875:G:A p.(Thr13Ile) NC_000007.14:150977875:G:A Identity +NM_001080463.2:c.1678C>T NP_001073932.1:p.Arg560Ter NC_000011.10:103125115:C:T p.(Arg560Ter) NC_000011.10:103125115:C:T p.(Arg560Ter) NC_000011.10:103125115:C:T Identity +NM_001271723.2:c.310G>A NP_001258652.1:p.Val104Ile NC_000005.10:148402028:G:A p.(Val104Ile) NC_000005.10:148402028:G:A p.(Val104Ile) NC_000005.10:148402028:G:A Identity +NM_001277126.2:c.713A>G NP_001264055.1:p.Lys238Arg NC_000019.10:53810945:T:C p.(Lys238Arg) NC_000019.10:53810945:T:C p.(Lys238Arg) NC_000019.10:53810945:T:C Identity +NM_001130144.3:c.3518A>G NP_001123616.1:p.Gln1173Arg NC_000011.10:65539748:T:C p.(Gln1173Arg) NC_000011.10:65539748:T:C p.(Gln1173Arg) NC_000011.10:65539748:T:C Identity +NM_000051.4:c.5570C>T NP_000042.3:p.Ser1857Leu NC_000011.10:108304747:C:T p.(Ser1857Leu) NC_000011.10:108304747:C:T p.(Ser1857Leu) NC_000011.10:108304747:C:T Identity +NM_001310332.2:c.1034G>A NP_001297261.1:p.Arg345Gln NC_000014.9:24150886:G:A p.(Arg345Gln) NC_000014.9:24150886:G:A p.(Arg345Gln) NC_000014.9:24150886:G:A Identity +NM_000142.5:c.1246C>T NP_000133.1:p.Arg416Cys NC_000004.12:1804499:C:T p.(Arg416Cys) NC_000004.12:1804499:C:T p.(Arg416Cys) NC_000004.12:1804499:C:T Identity +NM_014727.3:c.1904C>T NP_055542.1:p.Pro635Leu NC_000019.10:35721250:C:T p.(Pro635Leu) NC_000019.10:35721250:C:T p.(Pro635Leu) NC_000019.10:35721250:C:T Identity +NM_001818.5:c.380C>T NP_001809.4:p.Thr127Met NC_000010.11:5205766:C:T p.(Thr127Met) NC_000010.11:5205766:C:T p.(Thr127Met) NC_000010.11:5205766:C:T Identity +NM_001160227.2:c.3691C>T NP_001153699.1:p.Gln1231Ter NC_000015.10:44598831:G:A p.(Gln1231Ter) NC_000015.10:44598831:G:A p.(Gln1231Ter) NC_000015.10:44598831:G:A Identity +NM_001369346.1:c.2520G>C NP_001356275.1:p.Lys840Asn NC_000002.12:25743642:C:G p.(Lys840Asn) NC_000002.12:25743642:C:G p.(Lys840Asn) NC_000002.12:25743642:C:G Identity +NM_001254.4:c.733G>C NP_001245.1:p.Ala245Pro NC_000017.11:40293527:G:C p.(Ala245Pro) NC_000017.11:40293527:G:C p.(Ala245Pro) NC_000017.11:40293527:G:C Identity +NM_001026.5:c.297G>C NP_001017.1:p.Lys99Asn NC_000010.11:78037210:G:C p.(Lys99Asn) NC_000010.11:78037210:G:C p.(Lys99Asn) NC_000010.11:78037210:G:C Identity +NM_001280787.1:c.42G>C NP_001267716.1:p.Arg14Ser NC_000009.12:133353894:C:G p.(Arg14Ser) NC_000009.12:133353894:C:G p.(Arg14Ser) NC_000009.12:133353894:C:G Identity +NM_005199.5:c.534_537dup NP_005190.4:p.Leu180Ter NC_000002.12:232542446:GATTGAT:GATTGATTGAT p.(Leu180Ter) NC_000002.12:232542446:GATTGAT:GATTGATTGAT p.(Leu180Ter) ERR:SPDI Identity +NM_001271.4:c.2827A>G NP_001262.3:p.Met943Val NC_000015.10:92979233:A:G p.(Met943Val) NC_000015.10:92979233:A:G p.(Met943Val) NC_000015.10:92979233:A:G Identity +NM_001202504.1:c.2333G>A NP_001189433.1:p.Arg778Gln NC_000018.10:79736463:G:A p.(Arg778Gln) NC_000018.10:79736463:G:A p.(Arg778Gln) NC_000018.10:79736463:G:A Identity +NM_002890.3:c.402del NP_002881.1:p.Pro136fs NC_000005.10:87268849:TTTT:TTT p.(Pro136LeufsTer38) NC_000005.10:87268849:TTTT:TTT p.(Pro136LeufsTer38) NC_000005.10:87268852:T: Analogous +NM_016350.5:c.1433A>G NP_057434.4:p.Lys478Arg NC_000014.9:50770388:T:C p.(Lys478Arg) NC_000014.9:50770388:T:C p.(Lys478Arg) NC_000014.9:50770388:T:C Identity +NM_001144996.2:c.1978del NP_001138468.1:p.Thr660fs NC_000012.12:55695558:T: p.(Thr660ProfsTer24) NC_000012.12:55695558:T: p.(Thr660ProfsTer24) NC_000012.12:55695558:T: Analogous +NM_001271723.2:c.1484A>G NP_001258652.1:p.Asn495Ser NC_000005.10:148417069:A:G p.(Asn495Ser) NC_000005.10:148417069:A:G p.(Asn495Ser) NC_000005.10:148417069:A:G Identity +NM_001207000.1:c.727G>A NP_001193929.1:p.Asp243Asn NC_000004.12:82428064:C:T p.(Asp243Asn) NC_000004.12:82428064:C:T p.(Asp243Asn) NC_000004.12:82428064:C:T Identity +NM_001277115.2:c.10648G>C NP_001264044.1:p.Val3550Leu NC_000007.14:21818295:G:C p.(Val3550Leu) NC_000007.14:21818295:G:C p.(Val3550Leu) NC_000007.14:21818295:G:C Identity +NM_003823.4:c.455C>T NP_003814.1:p.Pro152Leu NC_000020.11:63697357:C:T p.(Pro152Leu) NC_000020.11:63697357:C:T p.(Pro152Leu) NC_000020.11:63697357:C:T Identity +NM_020376.4:c.739C>T NP_065109.1:p.Arg247Cys NC_000011.10:823568:C:T p.(Arg247Cys) NC_000011.10:823568:C:T p.(Arg247Cys) NC_000011.10:823568:C:T Identity +NM_000465.4:c.2330G>A NP_000456.2:p.Ser777Asn NC_000002.12:214728679:C:T p.(Ser777Asn) NC_000002.12:214728679:C:T p.(Ser777Asn) NC_000002.12:214728679:C:T Identity +NM_000387.6:c.306_315del NP_000378.1:p.His103fs NC_000003.12:48884007:TTCTGGGTGTTTCTG:TTCTG p.(His103MetfsTer23) NC_000003.12:48884007:TTCTGGGTGTTTCTG:TTCTG p.(His103MetfsTer23) NC_000003.12:48884007:TTCTGGGTGT: Analogous +NM_000172.4:c.815A>G NP_000163.2:p.Glu272Gly NC_000003.12:50194606:A:G p.(Glu272Gly) NC_000003.12:50194606:A:G p.(Glu272Gly) NC_000003.12:50194606:A:G Identity +NM_000393.5:c.1487C>A NP_000384.2:p.Pro496Gln NC_000002.12:189066465:G:T p.(Pro496Gln) NC_000002.12:189066465:G:T p.(Pro496Gln) NC_000002.12:189066465:G:T Identity +NM_000092.5:c.4614C>G NP_000083.3:p.Asp1538Glu NC_000002.12:227008212:G:C p.(Asp1538Glu) NC_000002.12:227008212:G:C p.(Asp1538Glu) NC_000002.12:227008212:G:C Identity +NM_152268.4:c.62T>C NP_689481.2:p.Leu21Pro NC_000001.11:54759099:A:G p.(Leu21Pro) NC_000001.11:54759099:A:G p.(Leu21Pro) NC_000001.11:54759099:A:G Identity +NM_001357321.2:c.1855C>A NP_001344250.1:p.Leu619Ile NC_000002.12:43877661:C:A p.(Leu619Ile) NC_000002.12:43877661:C:A p.(Leu619Ile) NC_000002.12:43877661:C:A Identity +NM_001330465.2:c.1149G>T NP_001317394.1:p.Met383Ile NC_000008.11:11563951:G:T p.(Met383Ile) NC_000008.11:11563951:G:T p.(Met383Ile) NC_000008.11:11563951:G:T Identity +NM_000739.3:c.8A>G NP_000730.1:p.Asn3Ser NC_000007.14:137014872:A:G p.(Asn3Ser) NC_000007.14:137014872:A:G p.(Asn3Ser) NC_000007.14:137014872:A:G Identity +NM_001281301.2:c.401C>G NP_001268230.1:p.Pro134Arg NC_000015.10:69423325:C:G p.(Pro134Arg) NC_000015.10:69423325:C:G p.(Pro134Arg) NC_000015.10:69423325:C:G Identity +NM_001143885.2:c.1504C>T NP_001137357.1:p.Pro502Ser NC_000012.12:79808528:G:A p.(Pro502Ser) NC_000012.12:79808528:G:A p.(Pro502Ser) NC_000012.12:79808528:G:A Identity +NM_018847.4:c.22G>A NP_061335.1:p.Gly8Ser NC_000009.12:21334837:C:T p.(Gly8Ser) NC_000009.12:21334837:C:T p.(Gly8Ser) NC_000009.12:21334837:C:T Identity +NM_001316690.1:c.944A>G NP_001303619.1:p.Tyr315Cys NC_000008.11:60742375:A:G p.(Tyr315Cys) NC_000008.11:60742375:A:G p.(Tyr315Cys) NC_000008.11:60742375:A:G Identity +NM_003079.5:c.1120del NP_003070.3:p.Val374fs NC_000017.11:40628900:CCCCC:CCCC p.(Val374SerfsTer68) NC_000017.11:40628900:CCCCC:CCCC p.(Val374SerfsTer68) NC_000017.11:40628900:C: Analogous +NM_006734.4:c.5272G>A NP_006725.3:p.Asp1758Asn NC_000006.12:142768451:C:T p.(Asp1758Asn) NC_000006.12:142768451:C:T p.(Asp1758Asn) NC_000006.12:142768451:C:T Identity +NM_001102406.2:c.184G>A NP_001095876.1:p.Val62Met NC_000004.12:112382459:G:A p.(Val62Met) NC_000004.12:112382459:G:A p.(Val62Met) NC_000004.12:112382459:G:A Identity +NM_001277115.2:c.2053C>T NP_001264044.1:p.Arg685Cys NC_000007.14:21589286:C:T p.(Arg685Cys) NC_000007.14:21589286:C:T p.(Arg685Cys) NC_000007.14:21589286:C:T Identity +NM_001060.6:c.59A>C NP_001051.1:p.Glu20Ala NC_000019.10:3600575:T:G p.(Glu20Ala) NC_000019.10:3600575:T:G p.(Glu20Ala) NC_000019.10:3600575:T:G Identity +NM_019066.5:c.503C>T NP_061939.3:p.Pro168Leu NC_000015.10:23647239:G:A p.(Pro168Leu) NC_000015.10:23647239:G:A p.(Pro168Leu) NC_000015.10:23647239:G:A Identity +NM_000222.3:c.821C>A NP_000213.1:p.Thr274Lys NC_000004.12:54703787:C:A p.(Thr274Lys) NC_000004.12:54703787:C:A p.(Thr274Lys) NC_000004.12:54703787:C:A Identity +NM_001326358.2:c.2512_2514delinsTGT NP_001313287.1:p.Gly838Cys NC_000016.10:77293234:CCC:ACA p.(Gly838Cys) NC_000016.10:77293234:CCC:ACA p.(Gly838Cys) NC_000016.10:77293234:CCC:ACA Identity +NM_013386.5:c.462T>G NP_037518.3:p.Asn154Lys NC_000001.11:108161229:A:C p.(Asn154Lys) NC_000001.11:108161229:A:C p.(Asn154Lys) NC_000001.11:108161229:A:C Identity +NM_001105243.2:c.2861A>T NP_001098713.1:p.Asp954Val NC_000023.11:100296721:T:A p.(Asp954Val) NC_000023.11:100296721:T:A p.(Asp954Val) NC_000023.11:100296721:T:A Identity +NM_006231.4:c.2173G>C NP_006222.2:p.Asp725His NC_000012.12:132668355:C:G p.(Asp725His) NC_000012.12:132668355:C:G p.(Asp725His) NC_000012.12:132668355:C:G Identity +NM_001277115.2:c.10580C>T NP_001264044.1:p.Ala3527Val NC_000007.14:21818227:C:T p.(Ala3527Val) NC_000007.14:21818227:C:T p.(Ala3527Val) NC_000007.14:21818227:C:T Identity +NM_000719.7:c.4843G>A NP_000710.5:p.Val1615Ile NC_000012.12:2677107:G:A p.(Val1615Ile) NC_000012.12:2677107:G:A p.(Val1615Ile) NC_000012.12:2677107:G:A Identity +NM_001308133.2:c.2177C>A NP_001295062.1:p.Ser726Ter NC_000014.9:45173148:C:A p.(Ser726Ter) NC_000014.9:45173148:C:A p.(Ser726Ter) NC_000014.9:45173148:C:A Identity +NM_001316767.2:c.464T>G NP_001303696.1:p.Leu155Arg NC_000001.11:146018215:A:C p.(Leu155Arg) NC_000001.11:146018215:A:C p.(Leu155Arg) NC_000001.11:146018215:A:C Identity +NM_001369614.1:c.94G>A NP_001356543.1:p.Val32Met NC_000017.11:38740308:C:T p.(Val32Met) NC_000017.11:38740308:C:T p.(Val32Met) NC_000017.11:38740308:C:T Identity +NM_001165255.2:c.76C>A NP_001158727.1:p.Leu26Met NC_000007.14:157006618:G:T p.(Leu26Met) NC_000007.14:157006618:G:T p.(Leu26Met) NC_000007.14:157006618:G:T Identity +NM_001254.4:c.161G>A NP_001245.1:p.Ser54Asn NC_000017.11:40289580:G:A p.(Ser54Asn) NC_000017.11:40289580:G:A p.(Ser54Asn) NC_000017.11:40289580:G:A Identity +NM_001089.3:c.2321C>T NP_001080.2:p.Ser774Phe NC_000016.10:2295682:G:A p.(Ser774Phe) NC_000016.10:2295682:G:A p.(Ser774Phe) NC_000016.10:2295682:G:A Identity +NM_006059.4:c.1570C>T NP_006050.3:p.Gln524Ter NC_000009.12:131049069:C:T p.(Gln524Ter) NC_000009.12:131049069:C:T p.(Gln524Ter) NC_000009.12:131049069:C:T Identity +NM_000208.4:c.2740C>T NP_000199.2:p.Arg914Cys NC_000019.10:7132259:G:A p.(Arg914Cys) NC_000019.10:7132259:G:A p.(Arg914Cys) NC_000019.10:7132259:G:A Identity +NM_001416202.1:c.793C>T NP_001403131.1:p.Arg265Trp NC_000012.12:53057043:C:T p.(Arg265Trp) NC_000012.12:53057043:C:T p.(Arg265Trp) NC_000012.12:53057043:C:T Identity +NM_001277115.2:c.851G>T NP_001264044.1:p.Arg284Met NC_000007.14:21559760:G:T p.(Arg284Met) NC_000007.14:21559760:G:T p.(Arg284Met) NC_000007.14:21559760:G:T Identity +NM_001376.5:c.5305A>G NP_001367.2:p.Met1769Val NC_000014.9:102005107:A:G p.(Met1769Val) NC_000014.9:102005107:A:G p.(Met1769Val) NC_000014.9:102005107:A:G Identity +NM_001447.3:c.1829T>A NP_001438.1:p.Phe610Tyr NC_000005.10:151567102:A:T p.(Phe610Tyr) NC_000005.10:151567102:A:T p.(Phe610Tyr) NC_000005.10:151567102:A:T Identity +NM_001357321.2:c.997G>A NP_001344250.1:p.Glu333Lys NC_000002.12:43872007:G:A p.(Glu333Lys) NC_000002.12:43872007:G:A p.(Glu333Lys) NC_000002.12:43872007:G:A Identity +NM_001184.4:c.3694G>T NP_001175.2:p.Ala1232Ser NC_000003.12:142538512:C:A p.(Ala1232Ser) NC_000003.12:142538512:C:A p.(Ala1232Ser) NC_000003.12:142538512:C:A Identity +NM_001193307.2:c.202G>A NP_001180236.1:p.Glu68Lys NC_000007.14:93105895:C:T p.(Glu68Lys) NC_000007.14:93105895:C:T p.(Glu68Lys) NC_000007.14:93105895:C:T Identity +NM_001020658.2:c.3365A>T NP_001018494.1:p.Tyr1122Phe NC_000001.11:30936712:T:A p.(Tyr1122Phe) NC_000001.11:30936712:T:A p.(Tyr1122Phe) NC_000001.11:30936712:T:A Identity +NM_018847.4:c.265G>A NP_061335.1:p.Asp89Asn NC_000009.12:21334594:C:T p.(Asp89Asn) NC_000009.12:21334594:C:T p.(Asp89Asn) NC_000009.12:21334594:C:T Identity +NM_001270449.2:c.469C>T NP_001257378.1:p.Arg157Ter NC_000012.12:109488592:C:T p.(Arg157Ter) NC_000012.12:109488592:C:T p.(Arg157Ter) NC_000012.12:109488592:C:T Identity +NM_001014431.2:c.971A>G NP_001014431.1:p.Asn324Ser NC_000014.9:104773078:T:C p.(Asn324Ser) NC_000014.9:104773078:T:C p.(Asn324Ser) NC_000014.9:104773078:T:C Identity +NM_001301128.2:c.4174G>A NP_001288057.1:p.Ala1392Thr NC_000007.14:78019466:C:T p.(Ala1392Thr) NC_000007.14:78019466:C:T p.(Ala1392Thr) NC_000007.14:78019466:C:T Identity +NM_000553.6:c.3949G>T NP_000544.2:p.Ala1317Ser NC_000008.11:31157496:G:T p.(Ala1317Ser) NC_000008.11:31157496:G:T p.(Ala1317Ser) NC_000008.11:31157496:G:T Identity +NM_000489.6:c.3563C>T NP_000480.3:p.Ser1188Phe NC_000023.11:77681692:G:A p.(Ser1188Phe) NC_000023.11:77681692:G:A p.(Ser1188Phe) NC_000023.11:77681692:G:A Identity +NM_004260.4:c.530C>T NP_004251.4:p.Ala177Val NC_000008.11:144516588:G:A p.(Ala177Val) NC_000008.11:144516588:G:A p.(Ala177Val) NC_000008.11:144516588:G:A Identity +NM_001321193.3:c.434A>T NP_001308122.1:p.His145Leu NC_000003.12:177050603:T:A p.(His145Leu) NC_000003.12:177050603:T:A p.(His145Leu) NC_000003.12:177050603:T:A Identity +NM_001135021.2:c.461A>C NP_001128493.1:p.Asp154Ala NC_000002.12:85371185:A:C p.(Asp154Ala) NC_000002.12:85371185:A:C p.(Asp154Ala) NC_000002.12:85371185:A:C Identity +NM_001142966.3:c.1370C>T NP_001136438.1:p.Thr457Met NC_000018.10:21444385:C:T p.(Thr457Met) NC_000018.10:21444385:C:T p.(Thr457Met) NC_000018.10:21444385:C:T Identity +NM_001256856.2:c.139G>A NP_001243785.1:p.Ala47Thr NC_000010.11:101430434:G:A p.(Ala47Thr) NC_000010.11:101430434:G:A p.(Ala47Thr) NC_000010.11:101430434:G:A Identity +NM_021950.4:c.653G>A NP_068769.2:p.Arg218Lys NC_000011.10:60467037:G:A p.(Arg218Lys) NC_000011.10:60467037:G:A p.(Arg218Lys) NC_000011.10:60467037:G:A Identity +NM_001081640.2:c.1670G>T NP_001075109.1:p.Ser557Ile NC_000008.11:47933125:C:A p.(Ser557Ile) NC_000008.11:47933125:C:A p.(Ser557Ile) NC_000008.11:47933125:C:A Identity +NM_005245.4:c.4409C>T NP_005236.2:p.Ala1470Val NC_000004.12:186628677:G:A p.(Ala1470Val) NC_000004.12:186628677:G:A p.(Ala1470Val) NC_000004.12:186628677:G:A Identity +NM_001346813.1:c.5125_5126delGCinsAG NP_001333742.1:p.Ala1709Ser NC_000006.12:157203975:GC:AG ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_004444.5:c.2398G>A NP_004435.3:p.Ala800Thr NC_000007.14:100806505:C:T p.(Ala800Thr) NC_000007.14:100806505:C:T p.(Ala800Thr) NC_000007.14:100806505:C:T Identity +NM_001167614.2:c.1345C>T NP_001161086.1:p.Pro449Ser NC_000012.12:65170940:C:T p.(Pro449Ser) NC_000012.12:65170940:C:T p.(Pro449Ser) NC_000012.12:65170940:C:T Identity +NM_001394062.1:c.21162C>A NP_001380991.1:p.His7054Gln NC_000001.11:39458455:C:A p.(His7054Gln) NC_000001.11:39458455:C:A p.(His7054Gln) NC_000001.11:39458455:C:A Identity +NM_000155.4:c.1054G>C NP_000146.2:p.Glu352Gln NC_000009.12:34649558:G:C p.(Glu352Gln) NC_000009.12:34649558:G:C p.(Glu352Gln) NC_000009.12:34649558:G:C Identity +NM_001009999.3:c.2062T>G NP_001009999.1:p.Leu688Val NC_000001.11:23079558:T:G p.(Leu688Val) NC_000001.11:23079558:T:G p.(Leu688Val) NC_000001.11:23079558:T:G Identity +NM_001377273.1:c.3566G>A NP_001364202.1:p.Arg1189Lys NC_000012.12:21838077:C:T p.(Arg1189Lys) NC_000012.12:21838077:C:T p.(Arg1189Lys) NC_000012.12:21838077:C:T Identity +NM_001350888.2:c.82T>A NP_001337817.1:p.Tyr28Asn NC_000014.9:96392235:T:A p.(Tyr28Asn) NC_000014.9:96392235:T:A p.(Tyr28Asn) NC_000014.9:96392235:T:A Identity +NM_001407571.1:c.3644G>A NP_001394500.1:p.Ser1215Asn NC_000017.11:43091673:C:T p.(Ser1215Asn) NC_000017.11:43091673:C:T p.(Ser1215Asn) NC_000017.11:43091673:C:T Identity +NM_006231.4:c.6647T>A NP_006222.2:p.Leu2216Gln NC_000012.12:132625654:A:T p.(Leu2216Gln) NC_000012.12:132625654:A:T p.(Leu2216Gln) NC_000012.12:132625654:A:T Identity +NM_001077182.3:c.1256A>G NP_001070650.1:p.His419Arg NC_000017.11:81536699:A:G p.(His419Arg) NC_000017.11:81536699:A:G p.(His419Arg) NC_000017.11:81536699:A:G Identity +NM_014727.3:c.5683A>G NP_055542.1:p.Thr1895Ala NC_000019.10:35732231:A:G p.(Thr1895Ala) NC_000019.10:35732231:A:G p.(Thr1895Ala) NC_000019.10:35732231:A:G Identity +NM_001329938.2:c.325G>T NP_001316867.1:p.Asp109Tyr NC_000014.9:75980568:C:A p.(Asp109Tyr) NC_000014.9:75980568:C:A p.(Asp109Tyr) NC_000014.9:75980568:C:A Identity +NM_001270507.2:c.1545C>A NP_001257436.1:p.His515Gln NC_000006.12:137878989:C:A p.(His515Gln) NC_000006.12:137878989:C:A p.(His515Gln) NC_000006.12:137878989:C:A Identity +NM_000238.4:c.2800G>T NP_000229.1:p.Gly934Cys NC_000007.14:150947770:C:A p.(Gly934Cys) NC_000007.14:150947770:C:A p.(Gly934Cys) NC_000007.14:150947770:C:A Identity +NM_016562.4:c.3143C>T NP_057646.1:p.Thr1048Met NC_000023.11:12888650:C:T p.(Thr1048Met) NC_000023.11:12888650:C:T p.(Thr1048Met) NC_000023.11:12888650:C:T Identity +NM_001079821.3:c.2909G>A NP_001073289.2:p.Arg970Gln NC_000001.11:247444724:G:A p.(Arg970Gln) NC_000001.11:247444724:G:A p.(Arg970Gln) NC_000001.11:247444724:G:A Identity +NM_001183.6:c.1057G>A NP_001174.2:p.Val353Ile NC_000023.11:154435358:G:A p.(Val353Ile) NC_000023.11:154435358:G:A p.(Val353Ile) NC_000023.11:154435358:G:A Identity +NM_000441.2:c.809C>T NP_000432.1:p.Ala270Val NC_000007.14:107683244:C:T p.(Ala270Val) NC_000007.14:107683244:C:T p.(Ala270Val) NC_000007.14:107683244:C:T Identity +NM_001177599.2:c.1018G>T NP_001171070.1:p.Ala340Ser NC_000003.12:67495841:C:A p.(Ala340Ser) NC_000003.12:67495841:C:A p.(Ala340Ser) NC_000003.12:67495841:C:A Identity +NM_003737.4:c.2642G>A NP_003728.1:p.Arg881His NC_000011.10:6632869:C:T p.(Arg881His) NC_000011.10:6632869:C:T p.(Arg881His) NC_000011.10:6632869:C:T Identity +NM_001376.5:c.7621A>G NP_001367.2:p.Ile2541Val NC_000014.9:102016771:A:G p.(Ile2541Val) NC_000014.9:102016771:A:G p.(Ile2541Val) NC_000014.9:102016771:A:G Identity +NM_001256269.2:c.1031G>A NP_001243198.1:p.Ser344Asn NC_000016.10:29800002:G:A p.(Ser344Asn) NC_000016.10:29800002:G:A p.(Ser344Asn) NC_000016.10:29800002:G:A Identity +NM_001244580.2:c.6461T>C NP_001231509.1:p.Met2154Thr NC_000007.14:98959482:T:C p.(Met2154Thr) NC_000007.14:98959482:T:C p.(Met2154Thr) NC_000007.14:98959482:T:C Identity +NM_001256182.2:c.7091C>T NP_001243111.1:p.Ala2364Val NC_000016.10:89279450:G:A p.(Ala2364Val) NC_000016.10:89279450:G:A p.(Ala2364Val) NC_000016.10:89279450:G:A Identity +NM_001042383.2:c.33A>G NP_001035842.1:p.Arg11= NC_000003.12:134495352:A:G p.(Arg11=) NC_000003.12:134495352:A:G p.(Arg11=) NC_000003.12:134495352:A:G Identity +NM_001082575.3:c.911C>T NP_001076044.1:p.Ala304Val NC_000017.11:79094475:G:A p.(Ala304Val) NC_000017.11:79094475:G:A p.(Ala304Val) NC_000017.11:79094475:G:A Identity +NM_000171.4:c.1229A>C NP_000162.2:p.Gln410Pro NC_000005.10:151822793:T:G p.(Gln410Pro) NC_000005.10:151822793:T:G p.(Gln410Pro) NC_000005.10:151822793:T:G Identity +NM_001257281.2:c.199A>G NP_001244210.1:p.Thr67Ala NC_000002.12:232015659:A:G p.(Thr67Ala) NC_000002.12:232015659:A:G p.(Thr67Ala) NC_000002.12:232015659:A:G Identity +NM_001378285.1:c.405C>T NP_001365214.1:p.Asn135= NC_000003.12:149895555:C:T p.(Asn135=) NC_000003.12:149895555:C:T p.(Asn135=) NC_000003.12:149895555:C:T Identity +NM_001290184.2:c.1315A>G NP_001277113.1:p.Thr439Ala NC_000001.11:160355676:A:G p.(Thr439Ala) NC_000001.11:160355676:A:G p.(Thr439Ala) NC_000001.11:160355676:A:G Identity +NM_016239.4:c.2546C>T NP_057323.3:p.Pro849Leu NC_000017.11:18121345:C:T p.(Pro849Leu) NC_000017.11:18121345:C:T p.(Pro849Leu) NC_000017.11:18121345:C:T Identity +NM_001168378.1:c.1025C>T NP_001161850.1:p.Pro342Leu NC_000003.12:147391059:G:A p.(Pro342Leu) NC_000003.12:147391059:G:A p.(Pro342Leu) NC_000003.12:147391059:G:A Identity +NM_001142519.3:c.1241A>G NP_001135991.1:p.Tyr414Cys NC_000011.10:59152908:A:G p.(Tyr414Cys) NC_000011.10:59152908:A:G p.(Tyr414Cys) NC_000011.10:59152908:A:G Identity +NM_000212.3:c.1544_1545delinsAA NP_000203.2:p.Arg515Gln NC_000017.11:47292421:GG:AA p.(Arg515Gln) NC_000017.11:47292421:GG:AA p.(Arg515Gln) NC_000017.11:47292421:GG:AA Identity +NM_001999.4:c.4649C>T NP_001990.2:p.Thr1550Met NC_000005.10:128318216:G:A p.(Thr1550Met) NC_000005.10:128318216:G:A p.(Thr1550Met) NC_000005.10:128318216:G:A Identity +NM_152594.3:c.1275G>A NP_689807.1:p.Met425Ile NC_000015.10:38351603:G:A p.(Met425Ile) NC_000015.10:38351603:G:A p.(Met425Ile) NC_000015.10:38351603:G:A Identity +NM_001130009.3:c.1276A>G NP_001123481.3:p.Met426Val NC_000002.12:17779988:A:G p.(Met426Val) NC_000002.12:17779988:A:G p.(Met426Val) NC_000002.12:17779988:A:G Identity +NM_001271427.2:c.733C>T NP_001258356.1:p.Leu245Phe NC_000001.11:19240349:G:A p.(Leu245Phe) NC_000001.11:19240349:G:A p.(Leu245Phe) NC_000001.11:19240349:G:A Identity +NM_145691.4:c.128C>T NP_663729.1:p.Pro43Leu NC_000017.11:18038885:G:A p.(Pro43Leu) NC_000017.11:18038885:G:A p.(Pro43Leu) NC_000017.11:18038885:G:A Identity +NM_001163813.2:c.540C>A NP_001157285.1:p.Asn180Lys NC_000010.11:100993356:C:A p.(Asn180Lys) NC_000010.11:100993356:C:A p.(Asn180Lys) NC_000010.11:100993356:C:A Identity +NM_001203247.2:c.1039C>G NP_001190176.1:p.Pro347Ala NC_000007.14:148818062:G:C p.(Pro347Ala) NC_000007.14:148818062:G:C p.(Pro347Ala) NC_000007.14:148818062:G:C Identity +NM_001410876.1:c.1139C>T NP_001397805.1:p.Ser380Phe NC_000006.12:35459355:C:T p.(Ser380Phe) NC_000006.12:35459355:C:T p.(Ser380Phe) NC_000006.12:35459355:C:T Identity +NM_001256053.2:c.2526A>C NP_001242982.1:p.Glu842Asp NC_000010.11:27037900:T:G p.(Glu842Asp) NC_000010.11:27037900:T:G p.(Glu842Asp) NC_000010.11:27037900:T:G Identity +NM_003036.4:c.1478CCT[2] NP_003027.1:p.Ser495del NC_000001.11:2304295:CCTCCTCCT:CCTCCT p.(Ser495del) NC_000001.11:2304295:C:CCTCCT ERR:Parse ERR:Parse Identity +NM_000875.5:c.1660G>A NP_000866.1:p.Val554Met NC_000015.10:98913113:G:A p.(Val554Met) NC_000015.10:98913113:G:A p.(Val554Met) NC_000015.10:98913113:G:A Identity +NM_000495.5:c.2351G>T NP_000486.1:p.Gly784Val NC_000023.11:108606847:G:T p.(Gly784Val) NC_000023.11:108606847:G:T p.(Gly784Val) NC_000023.11:108606847:G:T Identity +NM_001316690.1:c.1186A>G NP_001303619.1:p.Met396Val NC_000008.11:60742617:A:G p.(Met396Val) NC_000008.11:60742617:A:G p.(Met396Val) NC_000008.11:60742617:A:G Identity +NM_001366110.1:c.340A>T NP_001353039.1:p.Thr114Ser NC_000007.14:127614899:T:A p.(Thr114Ser) NC_000007.14:127614899:T:A p.(Thr114Ser) NC_000007.14:127614899:T:A Identity +NM_001378454.1:c.2907G>T NP_001365383.1:p.Leu969Phe NC_000002.12:73449433:G:T p.(Leu969Phe) NC_000002.12:73449433:G:T p.(Leu969Phe) NC_000002.12:73449433:G:T Identity +NM_001079846.1:c.2423C>G NP_001073315.1:p.Pro808Arg NC_000016.10:3770912:G:C p.(Pro808Arg) NC_000016.10:3770912:G:C p.(Pro808Arg) NC_000016.10:3770912:G:C Identity +NM_001254.4:c.436T>C NP_001245.1:p.Cys146Arg NC_000017.11:40291314:T:C p.(Cys146Arg) NC_000017.11:40291314:T:C p.(Cys146Arg) NC_000017.11:40291314:T:C Identity +NM_001256442.2:c.106C>A NP_001243371.1:p.Gln36Lys NC_000016.10:29813159:C:A p.(Gln36Lys) NC_000016.10:29813159:C:A p.(Gln36Lys) NC_000016.10:29813159:C:A Identity +NM_001277115.2:c.9023T>C NP_001264044.1:p.Ile3008Thr NC_000007.14:21765509:T:C p.(Ile3008Thr) NC_000007.14:21765509:T:C p.(Ile3008Thr) NC_000007.14:21765509:T:C Identity +NM_000477.7:c.313C>T NP_000468.1:p.Arg105Cys NC_000004.12:73408635:C:T p.(Arg105Cys) NC_000004.12:73408635:C:T p.(Arg105Cys) NC_000004.12:73408635:C:T Identity +NM_001136052.3:c.709G>A NP_001129524.1:p.Glu237Lys NC_000019.10:49704724:G:A p.(Glu237Lys) NC_000019.10:49704724:G:A p.(Glu237Lys) NC_000019.10:49704724:G:A Identity +NM_001320269.2:c.417_418inv NP_001307198.1:p.Thr140Ala NC_000001.11:62266748:TG:CA p.(Thr140Ala) NC_000001.11:62266748:TG:CA p.(Thr140Ala) ERR:SPDI Identity +NM_000421.5:c.935T>C NP_000412.4:p.Val312Ala NC_000017.11:40820355:A:G p.(Val312Ala) NC_000017.11:40820355:A:G p.(Val312Ala) NC_000017.11:40820355:A:G Identity +NM_001256053.2:c.4776G>C NP_001242982.1:p.Gln1592His NC_000010.11:27013055:C:G p.(Gln1592His) NC_000010.11:27013055:C:G p.(Gln1592His) NC_000010.11:27013055:C:G Identity +NM_000553.6:c.2790G>A NP_000544.2:p.Met930Ile NC_000008.11:31124964:G:A p.(Met930Ile) NC_000008.11:31124964:G:A p.(Met930Ile) NC_000008.11:31124964:G:A Identity +NM_004064.5:c.444C>A NP_004055.1:p.Cys148Ter NC_000012.12:12718282:C:A p.(Cys148Ter) NC_000012.12:12718282:C:A p.(Cys148Ter) NC_000012.12:12718282:C:A Identity +NM_001382235.1:c.2009dup NP_001369164.1:p.Thr671fs NC_000020.11:63407307:GGGGGG:GGGGGGG p.(Thr671AspfsTer212) NC_000020.11:63407307:GGGGGG:GGGGGGG p.(Thr671AspfsTer212) ERR:SPDI Analogous +NM_001003800.2:c.2547G>T NP_001003800.1:p.Lys849Asn NC_000009.12:92715174:C:A p.(Lys849Asn) NC_000009.12:92715174:C:A p.(Lys849Asn) NC_000009.12:92715174:C:A Identity +NM_000321.3:c.97C>T NP_000312.2:p.Pro33Ser NC_000013.11:48304008:C:T p.(Pro33Ser) NC_000013.11:48304008:C:T p.(Pro33Ser) NC_000013.11:48304008:C:T Identity +NM_001148.6:c.6304G>A NP_001139.3:p.Glu2102Lys NC_000004.12:113354921:G:A p.(Glu2102Lys) NC_000004.12:113354921:G:A p.(Glu2102Lys) NC_000004.12:113354921:G:A Identity +NM_001410705.1:c.4145C>T NP_001397634.1:p.Ser1382Phe NC_000023.11:153954253:G:A p.(Ser1382Phe) NC_000023.11:153954253:G:A p.(Ser1382Phe) NC_000023.11:153954253:G:A Identity +NM_000249.4:c.693T>G NP_000240.1:p.Ile231Met NC_000003.12:37014446:T:G p.(Ile231Met) NC_000003.12:37014446:T:G p.(Ile231Met) NC_000003.12:37014446:T:G Identity +NM_000222.3:c.2179G>A NP_000213.1:p.Gly727Arg NC_000004.12:54731364:G:A p.(Gly727Arg) NC_000004.12:54731364:G:A p.(Gly727Arg) NC_000004.12:54731364:G:A Identity +NM_002238.4:c.2254A>C NP_002229.1:p.Asn752His NC_000001.11:210683915:T:G p.(Asn752His) NC_000001.11:210683915:T:G p.(Asn752His) NC_000001.11:210683915:T:G Identity +NM_001411020.1:c.1906A>G NP_001397949.1:p.Ser636Gly NC_000014.9:50157050:T:C p.(Ser636Gly) NC_000014.9:50157050:T:C p.(Ser636Gly) NC_000014.9:50157050:T:C Identity +NM_017780.4:c.1944G>C NP_060250.2:p.Lys648Asn NC_000008.11:60781277:G:C p.(Lys648Asn) NC_000008.11:60781277:G:C p.(Lys648Asn) NC_000008.11:60781277:G:C Identity +NM_000832.7:c.41C>T NP_000823.4:p.Ser14Phe NC_000009.12:137139526:C:T p.(Ser14Phe) NC_000009.12:137139526:C:T p.(Ser14Phe) NC_000009.12:137139526:C:T Identity +NM_000419.5:c.1999G>A NP_000410.2:p.Asp667Asn NC_000017.11:44378456:C:T p.(Asp667Asn) NC_000017.11:44378456:C:T p.(Asp667Asn) NC_000017.11:44378456:C:T Identity +NM_001099274.3:c.307G>C NP_001092744.1:p.Asp103His NC_000014.9:24241766:C:G p.(Asp103His) NC_000014.9:24241766:C:G p.(Asp103His) NC_000014.9:24241766:C:G Identity +NM_000093.5:c.2375G>A NP_000084.3:p.Arg792Gln NC_000009.12:134774901:G:A p.(Arg792Gln) NC_000009.12:134774901:G:A p.(Arg792Gln) NC_000009.12:134774901:G:A Identity +NM_020988.3:c.1009G>A NP_066268.1:p.Asp337Asn NC_000016.10:56354996:G:A p.(Asp337Asn) NC_000016.10:56354996:G:A p.(Asp337Asn) NC_000016.10:56354996:G:A Identity +NM_024408.4:c.5509C>T NP_077719.2:p.Leu1837Phe NC_000001.11:119919583:G:A p.(Leu1837Phe) NC_000001.11:119919583:G:A p.(Leu1837Phe) NC_000001.11:119919583:G:A Identity +NM_003079.5:c.920C>T NP_003070.3:p.Ala307Val NC_000017.11:40630820:G:A p.(Ala307Val) NC_000017.11:40630820:G:A p.(Ala307Val) NC_000017.11:40630820:G:A Identity +NM_003482.4:c.9902G>A NP_003473.3:p.Gly3301Asp NC_000012.12:49037453:C:T p.(Gly3301Asp) NC_000012.12:49037453:C:T p.(Gly3301Asp) NC_000012.12:49037453:C:T Identity +NM_178172.6:c.475G>A NP_835466.2:p.Gly159Ser NC_000008.11:143215437:G:A p.(Gly159Ser) NC_000008.11:143215437:G:A p.(Gly159Ser) NC_000008.11:143215437:G:A Identity +NM_000090.4:c.2416C>T NP_000081.2:p.Pro806Ser NC_000002.12:189002321:C:T p.(Pro806Ser) NC_000002.12:189002321:C:T p.(Pro806Ser) NC_000002.12:189002321:C:T Identity +NM_006231.4:c.6421G>A NP_006222.2:p.Glu2141Lys NC_000012.12:132626226:C:T p.(Glu2141Lys) NC_000012.12:132626226:C:T p.(Glu2141Lys) NC_000012.12:132626226:C:T Identity +NM_001177704.3:c.1717G>T NP_001171175.1:p.Ala573Ser NC_000009.12:14746951:C:A p.(Ala573Ser) NC_000009.12:14746951:C:A p.(Ala573Ser) NC_000009.12:14746951:C:A Identity +NM_005477.3:c.2069A>T NP_005468.1:p.Asn690Ile NC_000015.10:73324162:T:A p.(Asn690Ile) NC_000015.10:73324162:T:A p.(Asn690Ile) NC_000015.10:73324162:T:A Identity +NM_001282237.2:c.530C>T NP_001269166.1:p.Pro177Leu NC_000014.9:99231451:G:A p.(Pro177Leu) NC_000014.9:99231451:G:A p.(Pro177Leu) NC_000014.9:99231451:G:A Identity +NM_006767.4:c.1583T>C NP_006758.2:p.Leu528Pro NC_000022.11:20994236:T:C p.(Leu528Pro) NC_000022.11:20994236:T:C p.(Leu528Pro) NC_000022.11:20994236:T:C Identity +NM_001378120.1:c.4087A>G NP_001365049.1:p.Ile1363Val NC_000002.12:148489718:A:G p.(Ile1363Val) NC_000002.12:148489718:A:G p.(Ile1363Val) NC_000002.12:148489718:A:G Identity +NM_004304.5:c.1904A>G NP_004295.2:p.Tyr635Cys NC_000002.12:29275409:T:C p.(Tyr635Cys) NC_000002.12:29275409:T:C p.(Tyr635Cys) NC_000002.12:29275409:T:C Identity +NM_000444.6:c.589C>T NP_000435.3:p.Gln197Ter NC_000023.11:22077627:C:T p.(Gln197Ter) NC_000023.11:22077627:C:T p.(Gln197Ter) NC_000023.11:22077627:C:T Identity +NM_001322252.2:c.10G>A NP_001309181.1:p.Glu4Lys NC_000010.11:63465652:C:T p.(Glu4Lys) NC_000010.11:63465652:C:T p.(Glu4Lys) NC_000010.11:63465652:C:T Identity +NM_001272073.2:c.1636G>A NP_001259002.1:p.Val546Met NC_000003.12:49099198:C:T p.(Val546Met) NC_000003.12:49099198:C:T p.(Val546Met) NC_000003.12:49099198:C:T Identity +NM_014244.5:c.1622C>T NP_055059.2:p.Pro541Leu NC_000005.10:179152148:G:A p.(Pro541Leu) NC_000005.10:179152148:G:A p.(Pro541Leu) NC_000005.10:179152148:G:A Identity +NM_001031696.4:c.595G>A NP_001026866.1:p.Val199Ile NC_000019.10:40370153:G:A p.(Val199Ile) NC_000019.10:40370153:G:A p.(Val199Ile) NC_000019.10:40370153:G:A Identity +NM_001291411.2:c.4900A>G NP_001278340.2:p.Thr1634Ala NC_000021.9:33554130:A:G p.(Thr1634Ala) NC_000021.9:33554130:A:G p.(Thr1634Ala) NC_000021.9:33554130:A:G Identity +NM_199037.5:c.503G>C NP_950238.1:p.Arg168Thr NC_000019.10:35033793:G:C p.(Arg168Thr) NC_000019.10:35033793:G:C p.(Arg168Thr) NC_000019.10:35033793:G:C Identity +NM_001362836.2:c.1304T>C NP_001349765.1:p.Ile435Thr NC_000008.11:105801544:T:C p.(Ile435Thr) NC_000008.11:105801544:T:C p.(Ile435Thr) NC_000008.11:105801544:T:C Identity +NM_001294347.2:c.961C>A NP_001281276.1:p.Pro321Thr NC_000001.11:36098524:G:T p.(Pro321Thr) NC_000001.11:36098524:G:T p.(Pro321Thr) NC_000001.11:36098524:G:T Identity +NM_001375567.1:c.3427G>A NP_001362496.1:p.Val1143Ile NC_000009.12:20944645:G:A p.(Val1143Ile) NC_000009.12:20944645:G:A p.(Val1143Ile) NC_000009.12:20944645:G:A Identity +NM_173354.5:c.2255T>C NP_775490.2:p.Leu752Pro NC_000021.9:43416838:A:G p.(Leu752Pro) NC_000021.9:43416838:A:G p.(Leu752Pro) NC_000021.9:43416838:A:G Identity +NM_001363734.1:c.2405A>G NP_001350663.1:p.Asp802Gly NC_000020.11:32435299:A:G p.(Asp802Gly) NC_000020.11:32435299:A:G p.(Asp802Gly) NC_000020.11:32435299:A:G Identity +NM_003482.4:c.7796G>T NP_003473.3:p.Gly2599Val NC_000012.12:49039973:C:A p.(Gly2599Val) NC_000012.12:49039973:C:A p.(Gly2599Val) NC_000012.12:49039973:C:A Identity +NM_152464.3:c.596G>A NP_689677.1:p.Arg199Gln NC_000017.11:28361220:G:A p.(Arg199Gln) NC_000017.11:28361220:G:A p.(Arg199Gln) NC_000017.11:28361220:G:A Identity +NM_001105077.4:c.997A>G NP_001098547.3:p.Met333Val NC_000003.12:169116505:T:C p.(Met333Val) NC_000003.12:169116505:T:C p.(Met333Val) NC_000003.12:169116505:T:C Identity +NM_001308301.1:c.377C>T NP_001295230.1:p.Pro126Leu NC_000016.10:46732269:G:A p.(Pro126Leu) NC_000016.10:46732269:G:A p.(Pro126Leu) NC_000016.10:46732269:G:A Identity +NM_001447.3:c.6107A>G NP_001438.1:p.His2036Arg NC_000005.10:151545019:T:C p.(His2036Arg) NC_000005.10:151545019:T:C p.(His2036Arg) NC_000005.10:151545019:T:C Identity +NM_001163817.2:c.1161G>A NP_001157289.1:p.Gly387= NC_000011.10:71435641:C:T p.(Gly387=) NC_000011.10:71435641:C:T p.(Gly387=) NC_000011.10:71435641:C:T Identity +NM_000748.3:c.626C>T NP_000739.1:p.Pro209Leu NC_000001.11:154571448:C:T p.(Pro209Leu) NC_000001.11:154571448:C:T p.(Pro209Leu) NC_000001.11:154571448:C:T Identity +NM_005751.5:c.905A>C NP_005742.4:p.Gln302Pro NC_000007.14:91995774:A:C p.(Gln302Pro) NC_000007.14:91995774:A:C p.(Gln302Pro) NC_000007.14:91995774:A:C Identity +NM_001374299.1:c.790T>C NP_001361228.1:p.Ser264Pro NC_000009.12:92278241:A:G p.(Ser264Pro) NC_000009.12:92278241:A:G p.(Ser264Pro) NC_000009.12:92278241:A:G Identity +NM_006950.3:c.1715C>A NP_008881.2:p.Pro572Gln NC_000023.11:47574268:G:T p.(Pro572Gln) NC_000023.11:47574268:G:T p.(Pro572Gln) NC_000023.11:47574268:G:T Identity +NM_004273.5:c.386C>A NP_004264.2:p.Ala129Glu NC_000010.11:72007416:C:A p.(Ala129Glu) NC_000010.11:72007416:C:A p.(Ala129Glu) NC_000010.11:72007416:C:A Identity +NM_001166111.2:c.2563C>T NP_001159583.1:p.Gln855Ter NC_000019.10:7554621:C:T p.(Gln855Ter) NC_000019.10:7554621:C:T p.(Gln855Ter) NC_000019.10:7554621:C:T Identity +NM_001396110.1:c.262A>G NP_001383039.1:p.Ile88Val NC_000005.10:178150961:T:C p.(Ile88Val) NC_000005.10:178150961:T:C p.(Ile88Val) NC_000005.10:178150961:T:C Identity +NM_001127660.2:c.486G>C NP_001121132.1:p.Gln162His NC_000001.11:11997307:G:C p.(Gln162His) NC_000001.11:11997307:G:C p.(Gln162His) NC_000001.11:11997307:G:C Identity +NM_001282237.2:c.1792A>G NP_001269166.1:p.Met598Val NC_000014.9:99175040:T:C p.(Met598Val) NC_000014.9:99175040:T:C p.(Met598Val) NC_000014.9:99175040:T:C Identity +NM_030665.4:c.5404G>A NP_109590.3:p.Gly1802Ser NC_000017.11:17798351:G:A p.(Gly1802Ser) NC_000017.11:17798351:G:A p.(Gly1802Ser) NC_000017.11:17798351:G:A Identity +NM_000195.5:c.1034_1035insCTGGGCCC NP_000186.2:p.Ser346fs NC_000010.11:98425938:GG:GGGCCCAGGG p.(Ser346TrpfsTer15) NC_000010.11:98425937:A:GGGCCCAG p.(Ser346TrpfsTer15) NC_000010.11:98425938:AG:GGGCCCAG Analogous +NM_001167625.2:c.4486G>A NP_001161097.1:p.Glu1496Lys NC_000012.12:2665700:G:A p.(Glu1496Lys) NC_000012.12:2665700:G:A p.(Glu1496Lys) NC_000012.12:2665700:G:A Identity +NM_000350.3:c.6086G>T NP_000341.2:p.Gly2029Val NC_000001.11:94005501:C:A p.(Gly2029Val) NC_000001.11:94005501:C:A p.(Gly2029Val) NC_000001.11:94005501:C:A Identity +NM_000277.3:c.265C>A NP_000268.1:p.Pro89Thr NC_000012.12:102894821:G:T p.(Pro89Thr) NC_000012.12:102894821:G:T p.(Pro89Thr) NC_000012.12:102894821:G:T Identity +NM_002890.3:c.38C>G NP_002881.1:p.Pro13Arg NC_000005.10:87268488:C:G p.(Pro13Arg) NC_000005.10:87268488:C:G p.(Pro13Arg) NC_000005.10:87268488:C:G Identity +NM_001301012.2:c.833C>T NP_001287941.1:p.Pro278Leu NC_000006.12:133481486:C:T p.(Pro278Leu) NC_000006.12:133481486:C:T p.(Pro278Leu) NC_000006.12:133481486:C:T Identity +NM_001130823.3:c.587C>G NP_001124295.1:p.Pro196Arg NC_000019.10:10175600:G:C p.(Pro196Arg) NC_000019.10:10175600:G:C p.(Pro196Arg) NC_000019.10:10175600:G:C Identity +NM_007209.4:c.326G>T NP_009140.1:p.Arg109Leu NC_000009.12:124857963:C:A p.(Arg109Leu) NC_000009.12:124857963:C:A p.(Arg109Leu) NC_000009.12:124857963:C:A Identity +NM_001362843.2:c.524C>T NP_001349772.1:p.Pro175Leu NC_000022.11:41117615:C:T p.(Pro175Leu) NC_000022.11:41117615:C:T p.(Pro175Leu) NC_000022.11:41117615:C:T Identity +NM_000018.4:c.1274C>T NP_000009.1:p.Ala425Val NC_000017.11:7223816:C:T p.(Ala425Val) NC_000017.11:7223816:C:T p.(Ala425Val) NC_000017.11:7223816:C:T Identity +NM_001378259.1:c.526G>C NP_001365188.1:p.Gly176Arg NC_000003.12:123448019:C:G p.(Gly176Arg) NC_000003.12:123448019:C:G p.(Gly176Arg) NC_000003.12:123448019:C:G Identity +NM_001081.4:c.6178G>C NP_001072.2:p.Gly2060Arg NC_000010.11:16928249:C:G p.(Gly2060Arg) NC_000010.11:16928249:C:G p.(Gly2060Arg) NC_000010.11:16928249:C:G Identity +NM_001184728.3:c.958C>G NP_001171657.1:p.His320Asp NC_000020.11:45421474:C:G p.(His320Asp) NC_000020.11:45421474:C:G p.(His320Asp) NC_000020.11:45421474:C:G Identity +NM_001012720.2:c.481T>G NP_001012738.1:p.Cys161Gly NC_000010.11:84252978:T:G p.(Cys161Gly) NC_000010.11:84252978:T:G p.(Cys161Gly) NC_000010.11:84252978:T:G Identity +NM_000428.3:c.1253G>T NP_000419.1:p.Cys418Phe NC_000014.9:74552332:C:A p.(Cys418Phe) NC_000014.9:74552332:C:A p.(Cys418Phe) NC_000014.9:74552332:C:A Identity +NM_002317.7:c.95C>G NP_002308.2:p.Pro32Arg NC_000005.10:122077890:G:C p.(Pro32Arg) NC_000005.10:122077890:G:C p.(Pro32Arg) NC_000005.10:122077890:G:C Identity +NM_007248.5:c.436A>G NP_009179.2:p.Ile146Val NC_000003.12:48467120:A:G p.(Ile146Val) NC_000003.12:48467120:A:G p.(Ile146Val) NC_000003.12:48467120:A:G Identity +NM_000248.4:c.916T>A NP_000239.1:p.Cys306Ser NC_000003.12:69964903:T:A p.(Cys306Ser) NC_000003.12:69964903:T:A p.(Cys306Ser) NC_000003.12:69964903:T:A Identity +NM_000248.4:c.13dup NP_000239.1:p.Leu5fs NC_000003.12:69936734:C:CC p.(Leu5ProfsTer4) NC_000003.12:69936734:C:CC p.(Leu5ProfsTer4) ERR:SPDI Analogous +NM_000814.6:c.1368del NP_000805.1:p.Pro457fs NC_000015.10:26547846:AAA:AA p.(Pro457HisfsTer9) NC_000015.10:26547846:AAA:AA p.(Pro457HisfsTer9) NC_000015.10:26547846:A: Analogous +NM_005045.4:c.9460C>T NP_005036.2:p.Leu3154Phe NC_000007.14:103490812:G:A p.(Leu3154Phe) NC_000007.14:103490812:G:A p.(Leu3154Phe) NC_000007.14:103490812:G:A Identity +NM_001277115.2:c.1931G>A NP_001264044.1:p.Arg644Gln NC_000007.14:21588593:G:A p.(Arg644Gln) NC_000007.14:21588593:G:A p.(Arg644Gln) NC_000007.14:21588593:G:A Identity +NM_005210.4:c.302G>T NP_005201.2:p.Gly101Val NC_000002.12:208142863:C:A p.(Gly101Val) NC_000002.12:208142863:C:A p.(Gly101Val) NC_000002.12:208142863:C:A Identity +NM_001114636.2:c.627G>A NP_001108108.1:p.Met209Ile NC_000002.12:58165802:C:T p.(Met209Ile) NC_000002.12:58165802:C:T p.(Met209Ile) NC_000002.12:58165802:C:T Identity +NM_000482.4:c.803C>T NP_000473.2:p.Ala268Val NC_000011.10:116821254:G:A p.(Ala268Val) NC_000011.10:116821254:G:A p.(Ala268Val) NC_000011.10:116821254:G:A Identity +NM_001363813.1:c.694GAG[1] NP_001350742.1:p.Glu233del NC_000017.11:65557921:CTCCTC:CTC p.(Glu233del) NC_000017.11:65557926:C:CTC ERR:Parse ERR:Parse Identity +NM_015295.3:c.473G>C NP_056110.2:p.Arg158Pro NC_000018.10:2673328:G:C p.(Arg158Pro) NC_000018.10:2673328:G:C p.(Arg158Pro) NC_000018.10:2673328:G:C Identity +NM_001256849.1:c.925C>T NP_001243778.1:p.Pro309Ser NC_000019.10:50402695:C:T p.(Pro309Ser) NC_000019.10:50402695:C:T p.(Pro309Ser) NC_000019.10:50402695:C:T Identity +NM_005045.4:c.592G>C NP_005036.2:p.Asp198His NC_000007.14:103749489:C:G p.(Asp198His) NC_000007.14:103749489:C:G p.(Asp198His) NC_000007.14:103749489:C:G Identity +NM_001351527.2:c.5609A>G NP_001338456.1:p.Asn1870Ser NC_000009.12:132298251:T:C p.(Asn1870Ser) NC_000009.12:132298251:T:C p.(Asn1870Ser) NC_000009.12:132298251:T:C Identity +NM_000816.3:c.144T>A NP_000807.2:p.Asp48Glu NC_000005.10:162093863:T:A p.(Asp48Glu) NC_000005.10:162093863:T:A p.(Asp48Glu) NC_000005.10:162093863:T:A Identity +NM_001017423.2:c.2273C>T NP_001017423.1:p.Thr758Ile NC_000010.11:95606870:G:A p.(Thr758Ile) NC_000010.11:95606870:G:A p.(Thr758Ile) NC_000010.11:95606870:G:A Identity +NM_001005407.2:c.6880_6887del NP_001005407.1:p.Ile2294fs NC_000016.10:1220826:GCCATAGTGCC:GCC p.(Ile2294ProfsTer14) NC_000016.10:1220826:GCCATAGTGCC:GCC p.(Ile2294ProfsTer14) NC_000016.10:1220829:ATAGTGCC: Analogous +NM_000445.5:c.12638C>T NP_000436.2:p.Ser4213Leu NC_000008.11:143917263:G:A p.(Ser4213Leu) NC_000008.11:143917263:G:A p.(Ser4213Leu) NC_000008.11:143917263:G:A Identity +NM_001330209.2:c.1480A>G NP_001317138.1:p.Ser494Gly NC_000023.11:13758393:A:G p.(Ser494Gly) NC_000023.11:13758393:A:G p.(Ser494Gly) NC_000023.11:13758393:A:G Identity +NM_000021.4:c.323G>A NP_000012.1:p.Arg108Gln NC_000014.9:73171031:G:A p.(Arg108Gln) NC_000014.9:73171031:G:A p.(Arg108Gln) NC_000014.9:73171031:G:A Identity +NM_007248.5:c.776G>T NP_009179.2:p.Gly259Val NC_000003.12:48467460:G:T p.(Gly259Val) NC_000003.12:48467460:G:T p.(Gly259Val) NC_000003.12:48467460:G:T Identity +NM_001293557.2:c.79G>A NP_001280486.1:p.Glu27Lys NC_000016.10:50699573:G:A p.(Glu27Lys) NC_000016.10:50699573:G:A p.(Glu27Lys) NC_000016.10:50699573:G:A Identity +NM_001110556.2:c.910T>G NP_001104026.1:p.Phe304Val NC_000023.11:154366808:A:C p.(Phe304Val) NC_000023.11:154366808:A:C p.(Phe304Val) NC_000023.11:154366808:A:C Identity +NM_001040142.2:c.514A>G NP_001035232.1:p.Ile172Val NC_000002.12:165308702:A:G p.(Ile172Val) NC_000002.12:165308702:A:G p.(Ile172Val) NC_000002.12:165308702:A:G Identity +NM_000138.5:c.1495T>C NP_000129.3:p.Cys499Arg NC_000015.10:48513641:A:G p.(Cys499Arg) NC_000015.10:48513641:A:G p.(Cys499Arg) NC_000015.10:48513641:A:G Identity +NM_001127649.3:c.256T>C NP_001121121.1:p.Cys86Arg NC_000022.11:18079898:T:C p.(Cys86Arg) NC_000022.11:18079898:T:C p.(Cys86Arg) NC_000022.11:18079898:T:C Identity +NM_001037343.2:c.1906G>T NP_001032420.1:p.Ala636Ser NC_000023.11:18604829:G:T p.(Ala636Ser) NC_000023.11:18604829:G:T p.(Ala636Ser) NC_000023.11:18604829:G:T Identity +NM_001184985.2:c.4825A>G NP_001171914.1:p.Thr1609Ala NC_000012.12:884848:A:G p.(Thr1609Ala) NC_000012.12:884848:A:G p.(Thr1609Ala) NC_000012.12:884848:A:G Identity +NM_000384.3:c.3145A>G NP_000375.3:p.Met1049Val NC_000002.12:21016625:T:C p.(Met1049Val) NC_000002.12:21016625:T:C p.(Met1049Val) NC_000002.12:21016625:T:C Identity +NM_007248.5:c.284C>T NP_009179.2:p.Ala95Val NC_000003.12:48466968:C:T p.(Ala95Val) NC_000003.12:48466968:C:T p.(Ala95Val) NC_000003.12:48466968:C:T Identity +NM_001127897.4:c.1732C>T NP_001121369.1:p.Gln578Ter NC_000016.10:53652954:G:A p.(Gln578Ter) NC_000016.10:53652954:G:A p.(Gln578Ter) NC_000016.10:53652954:G:A Identity +NM_000834.5:c.2863GAG[1] NP_000825.2:p.Glu956del NC_000012.12:13564369:CTCCTC:CTC p.(Glu956del) NC_000012.12:13564374:C:CTC ERR:Parse ERR:Parse Identity +NM_000554.6:c.159del NP_000545.1:p.Glu53fs NC_000019.10:47836300:G: p.(Glu53AspfsTer22) NC_000019.10:47836300:G: p.(Glu53AspfsTer22) NC_000019.10:47836300:G: Analogous +NM_000378.6:c.877C>T NP_000369.4:p.Pro293Ser NC_000011.10:32427965:G:A p.(Pro293Ser) NC_000011.10:32427965:G:A p.(Pro293Ser) NC_000011.10:32427965:G:A Identity +NM_001270782.2:c.410A>G NP_001257711.1:p.His137Arg NC_000010.11:58388787:A:G p.(His137Arg) NC_000010.11:58388787:A:G p.(His137Arg) NC_000010.11:58388787:A:G Identity +NM_001277115.2:c.6394C>G NP_001264044.1:p.Leu2132Val NC_000007.14:21704553:C:G p.(Leu2132Val) NC_000007.14:21704553:C:G p.(Leu2132Val) NC_000007.14:21704553:C:G Identity +NM_001164507.2:c.18221A>T NP_001157979.2:p.Asp6074Val NC_000002.12:151565755:T:A p.(Asp6074Val) NC_000002.12:151565755:T:A p.(Asp6074Val) NC_000002.12:151565755:T:A Identity +NM_001167614.2:c.904G>T NP_001161086.1:p.Ala302Ser NC_000012.12:65170499:G:T p.(Ala302Ser) NC_000012.12:65170499:G:T p.(Ala302Ser) NC_000012.12:65170499:G:T Identity +NM_015425.6:c.4579G>C NP_056240.2:p.Val1527Leu NC_000002.12:86030395:C:G p.(Val1527Leu) NC_000002.12:86030395:C:G p.(Val1527Leu) NC_000002.12:86030395:C:G Identity +NM_000425.5:c.2201C>T NP_000416.1:p.Thr734Met NC_000023.11:153867060:G:A p.(Thr734Met) NC_000023.11:153867060:G:A p.(Thr734Met) NC_000023.11:153867060:G:A Identity +NM_001256164.1:c.85C>T NP_001243093.1:p.Arg29Cys NC_000001.11:165768819:G:A p.(Arg29Cys) NC_000001.11:165768819:G:A p.(Arg29Cys) NC_000001.11:165768819:G:A Identity +NM_001424113.1:c.7489A>G NP_001411042.1:p.Ile2497Val NC_000006.12:75117411:T:C p.(Ile2497Val) NC_000006.12:75117411:T:C p.(Ile2497Val) NC_000006.12:75117411:T:C Identity +NM_000138.5:c.5856del NP_000129.3:p.Ser1953fs NC_000015.10:48445436:CCCC:CCC p.(Ser1953LeufsTer27) NC_000015.10:48445436:CCCC:CCC p.(Ser1953LeufsTer27) NC_000015.10:48445436:C: Analogous +NM_001144769.5:c.8540T>G NP_001138241.1:p.Leu2847Trp NC_000006.12:56555583:A:C p.(Leu2847Trp) NC_000006.12:56555583:A:C p.(Leu2847Trp) NC_000006.12:56555583:A:C Identity +NM_001283009.2:c.2827C>T NP_001269938.1:p.Pro943Ser NC_000020.11:63692978:C:T p.(Pro943Ser) NC_000020.11:63692978:C:T p.(Pro943Ser) NC_000020.11:63692978:C:T Identity +LRG_870t1:c.3507G>C LRG_870p1:p.Lys1169Asn NC_000007.14:128844971:G:C ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:Data provider error: ValueError: Transcript LRG_870t1 not found ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_870t1, alt_ac=LRG_870t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_870t1 not found +NM_000268.4:c.1529A>T NP_000259.1:p.Lys510Ile NC_000022.11:29678277:A:T p.(Lys510Ile) NC_000022.11:29678277:A:T p.(Lys510Ile) NC_000022.11:29678277:A:T Identity +NM_000317.3:c.322G>T NP_000308.1:p.Glu108Ter NC_000011.10:112233438:G:T p.(Glu108Ter) NC_000011.10:112233438:G:T p.(Glu108Ter) NC_000011.10:112233438:G:T Identity +NM_012463.4:c.1019G>A NP_036595.2:p.Arg340Gln NC_000012.12:123737251:G:A p.(Arg340Gln) NC_000012.12:123737251:G:A p.(Arg340Gln) NC_000012.12:123737251:G:A Identity +NM_001008537.3:c.2300C>T NP_001008537.1:p.Thr767Ile NC_000023.11:74742256:G:A p.(Thr767Ile) NC_000023.11:74742256:G:A p.(Thr767Ile) NC_000023.11:74742256:G:A Identity +NM_001199138.2:c.1685A>G NP_001186067.1:p.Tyr562Cys NC_000002.12:32250178:T:C p.(Tyr562Cys) NC_000002.12:32250178:T:C p.(Tyr562Cys) NC_000002.12:32250178:T:C Identity +NM_000445.5:c.5129C>T NP_000436.2:p.Ala1710Val NC_000008.11:143924880:G:A p.(Ala1710Val) NC_000008.11:143924880:G:A p.(Ala1710Val) NC_000008.11:143924880:G:A Identity +NM_000069.3:c.3707G>A NP_000060.2:p.Arg1236His NC_000001.11:201053546:C:T p.(Arg1236His) NC_000001.11:201053546:C:T p.(Arg1236His) NC_000001.11:201053546:C:T Identity +NM_001365536.1:c.4546G>C NP_001352465.1:p.Ala1516Pro NC_000002.12:166204182:C:G p.(Ala1516Pro) NC_000002.12:166204182:C:G p.(Ala1516Pro) NC_000002.12:166204182:C:G Identity +NM_003673.4:c.332dup NP_003664.1:p.Gln112fs NC_000017.11:39665936:T:TT p.(Gln112ProfsTer24) NC_000017.11:39665936:T:TT p.(Gln112ProfsTer24) ERR:SPDI Analogous +NM_001134477.3:c.71C>G NP_001127949.1:p.Thr24Arg NC_000016.10:14627178:G:C p.(Thr24Arg) NC_000016.10:14627178:G:C p.(Thr24Arg) NC_000016.10:14627178:G:C Identity +NM_001008211.1:c.523del NP_001008212.1:p.Glu175fs NC_000010.11:13112605:G: p.(Glu175LysfsTer18) NC_000010.11:13112605:G: p.(Glu175LysfsTer18) NC_000010.11:13112605:G: Analogous +NM_001321268.2:c.481dup NP_001308197.1:p.Ala161fs NC_000017.11:58208517:CC:CCC p.(Ala161GlyfsTer15) NC_000017.11:58208517:CC:CCC p.(Ala161GlyfsTer15) ERR:SPDI Analogous +NM_001134477.3:c.1717G>A NP_001127949.1:p.Glu573Lys NC_000016.10:14436736:C:T p.(Glu573Lys) NC_000016.10:14436736:C:T p.(Glu573Lys) NC_000016.10:14436736:C:T Identity +NM_001282205.2:c.261T>A NP_001269134.1:p.Gly87= NC_000009.12:34637310:A:T p.(Gly87=) NC_000009.12:34637310:A:T p.(Gly87=) NC_000009.12:34637310:A:T Identity +NM_000543.5:c.731G>A NP_000534.3:p.Gly244Glu NC_000011.10:6391795:G:A p.(Gly244Glu) NC_000011.10:6391795:G:A p.(Gly244Glu) NC_000011.10:6391795:G:A Identity +NM_000445.5:c.1270A>T NP_000436.2:p.Ile424Phe NC_000008.11:143934071:T:A p.(Ile424Phe) NC_000008.11:143934071:T:A p.(Ile424Phe) NC_000008.11:143934071:T:A Identity +NM_015512.5:c.9391G>A NP_056327.4:p.Val3131Met NC_000003.12:52388832:G:A p.(Val3131Met) NC_000003.12:52388832:G:A p.(Val3131Met) NC_000003.12:52388832:G:A Identity +NM_000462.5:c.968A>G NP_000453.2:p.Lys323Arg NC_000015.10:25371214:T:C p.(Lys323Arg) NC_000015.10:25371214:T:C p.(Lys323Arg) NC_000015.10:25371214:T:C Identity +NM_001257281.2:c.71G>C NP_001244210.1:p.Gly24Ala NC_000002.12:232015531:G:C p.(Gly24Ala) NC_000002.12:232015531:G:C p.(Gly24Ala) NC_000002.12:232015531:G:C Identity +NM_000379.4:c.3233C>T NP_000370.2:p.Thr1078Met NC_000002.12:31347564:G:A p.(Thr1078Met) NC_000002.12:31347564:G:A p.(Thr1078Met) NC_000002.12:31347564:G:A Identity +NM_000411.8:c.64C>T NP_000402.3:p.Gln22Ter NC_000021.9:36937380:G:A p.(Gln22Ter) NC_000021.9:36937380:G:A p.(Gln22Ter) NC_000021.9:36937380:G:A Identity +NM_001318381.2:c.901G>A NP_001305310.1:p.Ala301Thr NC_000009.12:100252392:G:A p.(Ala301Thr) NC_000009.12:100252392:G:A p.(Ala301Thr) NC_000009.12:100252392:G:A Identity +NM_000076.2:c.482C>T NP_000067.1:p.Ala161Val NC_000011.10:2885007:G:A p.(Ala161Val) NC_000011.10:2885007:G:A p.(Ala161Val) NC_000011.10:2885007:G:A Identity +NM_000604.2:c.140C>T NP_000595.1:p.Pro47Leu NC_000008.11:38429899:G:A ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001040142.2:c.4960A>G NP_001035232.1:p.Met1654Val NC_000002.12:165388765:A:G p.(Met1654Val) NC_000002.12:165388765:A:G p.(Met1654Val) NC_000002.12:165388765:A:G Identity +NM_012186.3:c.803G>C NP_036318.1:p.Arg268Pro NC_000001.11:47417117:G:C p.(Arg268Pro) NC_000001.11:47417117:G:C p.(Arg268Pro) NC_000001.11:47417117:G:C Identity +NM_000180.4:c.3289G>T NP_000171.1:p.Ala1097Ser NC_000017.11:8016506:G:T p.(Ala1097Ser) NC_000017.11:8016506:G:T p.(Ala1097Ser) NC_000017.11:8016506:G:T Identity +NM_000182.5:c.815C>A NP_000173.2:p.Ala272Asp NC_000002.12:26214545:G:T p.(Ala272Asp) NC_000002.12:26214545:G:T p.(Ala272Asp) NC_000002.12:26214545:G:T Identity +NM_001148.6:c.5807G>T NP_001139.3:p.Arg1936Leu NC_000004.12:113354424:G:T p.(Arg1936Leu) NC_000004.12:113354424:G:T p.(Arg1936Leu) NC_000004.12:113354424:G:T Identity +NM_032888.4:c.1346C>T NP_116277.2:p.Ser449Phe NC_000009.12:114168900:C:T p.(Ser449Phe) NC_000009.12:114168900:C:T p.(Ser449Phe) NC_000009.12:114168900:C:T Identity +NM_001267722.2:c.539A>G NP_001254651.1:p.Tyr180Cys NC_000004.12:56474319:A:G p.(Tyr180Cys) NC_000004.12:56474319:A:G p.(Tyr180Cys) NC_000004.12:56474319:A:G Identity +NM_001046.3:c.1322T>C NP_001037.1:p.Ile441Thr NC_000005.10:128135721:T:C p.(Ile441Thr) NC_000005.10:128135721:T:C p.(Ile441Thr) NC_000005.10:128135721:T:C Identity +NM_001290048.2:c.833T>G NP_001276977.1:p.Leu278Arg NC_000011.10:63636297:A:C p.(Leu278Arg) NC_000011.10:63636297:A:C p.(Leu278Arg) NC_000011.10:63636297:A:C Identity +NM_000272.5:c.901A>T NP_000263.2:p.Arg301Ter NC_000002.12:110164557:T:A p.(Arg301Ter) NC_000002.12:110164557:T:A p.(Arg301Ter) NC_000002.12:110164557:T:A Identity +NM_199242.3:c.1621_1622del NP_954712.1:p.Thr541fs NC_000017.11:75835751:GTGTG:GTG p.(Thr541AspfsTer5) NC_000017.11:75835751:GTGTG:GTG p.(Thr541AspfsTer5) NC_000017.11:75835751:GT: Analogous +NM_001369.3:c.926T>C NP_001360.1:p.Val309Ala NC_000005.10:13919224:A:G p.(Val309Ala) NC_000005.10:13919224:A:G p.(Val309Ala) NC_000005.10:13919224:A:G Identity +NM_001142498.2:c.1214A>G NP_001135970.1:p.Asn405Ser NC_000010.11:67916447:A:G p.(Asn405Ser) NC_000010.11:67916447:A:G p.(Asn405Ser) NC_000010.11:67916447:A:G Identity +NM_052872.4:c.31A>G NP_443104.1:p.Met11Val NC_000006.12:52244398:T:C p.(Met11Val) NC_000006.12:52244398:T:C p.(Met11Val) NC_000006.12:52244398:T:C Identity +NM_001345867.2:c.274C>T NP_001332796.1:p.Arg92Ter NC_000004.12:44689885:C:T p.(Arg92Ter) NC_000004.12:44689885:C:T p.(Arg92Ter) NC_000004.12:44689885:C:T Identity +NM_001257970.1:c.199G>A NP_001244899.1:p.Ala67Thr NC_000017.11:80181636:G:A p.(Ala67Thr) NC_000017.11:80181636:G:A p.(Ala67Thr) NC_000017.11:80181636:G:A Identity +NM_000501.4:c.1036G>A NP_000492.2:p.Val346Ile NC_000007.14:74053248:G:A p.(Val346Ile) NC_000007.14:74053248:G:A p.(Val346Ile) NC_000007.14:74053248:G:A Identity +NM_001136205.2:c.590G>C NP_001129677.1:p.Gly197Ala NC_000018.10:26459644:C:G p.(Gly197Ala) NC_000018.10:26459644:C:G p.(Gly197Ala) NC_000018.10:26459644:C:G Identity +NM_000060.4:c.185T>C NP_000051.1:p.Val62Ala NC_000003.12:15635563:T:C ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:Data provider error: ValueError: Transcript NM_000060.4 not found ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000060.4, alt_ac=NM_000060.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000060.4 not found +NM_000092.5:c.4291C>A NP_000083.3:p.Arg1431Ser NC_000002.12:227012222:G:T p.(Arg1431Ser) NC_000002.12:227012222:G:T p.(Arg1431Ser) NC_000002.12:227012222:G:T Identity +NM_001197115.2:c.997G>A NP_001184044.1:p.Val333Ile NC_000006.12:53506998:C:T p.(Val333Ile) NC_000006.12:53506998:C:T p.(Val333Ile) NC_000006.12:53506998:C:T Identity +NM_001807.6:c.203A>T NP_001798.3:p.His68Leu NC_000009.12:133064539:A:T p.(His68Leu) NC_000009.12:133064539:A:T p.(His68Leu) NC_000009.12:133064539:A:T Identity +NM_000020.3:c.1211T>A NP_000011.2:p.Val404Glu NC_000012.12:51916197:T:A p.(Val404Glu) NC_000012.12:51916197:T:A p.(Val404Glu) NC_000012.12:51916197:T:A Identity +NM_001375604.1:c.132T>C NP_001362533.1:p.Leu44= NC_000002.12:127420010:T:C p.(Leu44=) NC_000002.12:127420010:T:C p.(Leu44=) NC_000002.12:127420010:T:C Identity +NM_001278463.2:c.1736G>A NP_001265392.1:p.Arg579Lys NC_000012.12:32740124:G:A p.(Arg579Lys) NC_000012.12:32740124:G:A p.(Arg579Lys) NC_000012.12:32740124:G:A Identity +NM_001145847.2:c.1361A>G NP_001139319.1:p.Tyr454Cys NC_000004.12:16006603:T:C p.(Tyr454Cys) NC_000004.12:16006603:T:C p.(Tyr454Cys) NC_000004.12:16006603:T:C Identity +NM_006231.4:c.5662G>C NP_006222.2:p.Glu1888Gln NC_000012.12:132638029:C:G p.(Glu1888Gln) NC_000012.12:132638029:C:G p.(Glu1888Gln) NC_000012.12:132638029:C:G Identity +NM_001242307.2:c.1108C>T NP_001229236.1:p.Leu370Phe NC_000010.11:3158941:G:A p.(Leu370Phe) NC_000010.11:3158941:G:A p.(Leu370Phe) NC_000010.11:3158941:G:A Identity +NM_015073.3:c.1199C>T NP_055888.1:p.Thr400Ile NC_000019.10:38082763:C:T p.(Thr400Ile) NC_000019.10:38082763:C:T p.(Thr400Ile) NC_000019.10:38082763:C:T Identity +NM_015335.5:c.2509G>T NP_056150.1:p.Val837Phe NC_000012.12:116003062:C:A p.(Val837Phe) NC_000012.12:116003062:C:A p.(Val837Phe) NC_000012.12:116003062:C:A Identity +NM_001362836.2:c.628C>T NP_001349765.1:p.Arg210Trp NC_000008.11:105798770:C:T p.(Arg210Trp) NC_000008.11:105798770:C:T p.(Arg210Trp) NC_000008.11:105798770:C:T Identity +NM_001256182.2:c.914C>T NP_001243111.1:p.Ala305Val NC_000016.10:89285627:G:A p.(Ala305Val) NC_000016.10:89285627:G:A p.(Ala305Val) NC_000016.10:89285627:G:A Identity +NM_001112808.3:c.1895A>T NP_001106279.3:p.Asp632Val NC_000001.11:74369509:A:T p.(Asp632Val) NC_000001.11:74369509:A:T p.(Asp632Val) NC_000001.11:74369509:A:T Identity +NM_015425.6:c.4309G>T NP_056240.2:p.Gly1437Cys NC_000002.12:86031598:C:A p.(Gly1437Cys) NC_000002.12:86031598:C:A p.(Gly1437Cys) NC_000002.12:86031598:C:A Identity +NM_000395.3:c.1225T>C NP_000386.1:p.Trp409Arg NC_000022.11:36933903:T:C p.(Trp409Arg) NC_000022.11:36933903:T:C p.(Trp409Arg) NC_000022.11:36933903:T:C Identity +NM_002439.5:c.1896del NP_002430.3:p.Lys632fs NC_000005.10:80761672:AAAAAA:AAAAA p.(Lys632AsnfsTer9) NC_000005.10:80761672:AAAAAA:AAAAA p.(Lys632AsnfsTer9) NC_000005.10:80761677:A: Analogous +NM_001378418.1:c.5588A>G NP_001365347.1:p.Asn1863Ser NC_000022.11:42209717:T:C p.(Asn1863Ser) NC_000022.11:42209717:T:C p.(Asn1863Ser) NC_000022.11:42209717:T:C Identity +NM_001572.5:c.310C>T NP_001563.2:p.Arg104Cys NC_000011.10:614880:G:A p.(Arg104Cys) NC_000011.10:614880:G:A p.(Arg104Cys) NC_000011.10:614880:G:A Identity +NM_000744.7:c.1051A>G NP_000735.1:p.Ile351Val NC_000020.11:63350359:T:C p.(Ile351Val) NC_000020.11:63350359:T:C p.(Ile351Val) NC_000020.11:63350359:T:C Identity +NM_015692.5:c.959C>T NP_056507.3:p.Ala320Val NC_000019.10:16997246:G:A p.(Ala320Val) NC_000019.10:16997246:G:A p.(Ala320Val) NC_000019.10:16997246:G:A Identity +NM_015375.3:c.914G>A NP_056190.1:p.Arg305His NC_000001.11:205169572:C:T p.(Arg305His) NC_000001.11:205169572:C:T p.(Arg305His) NC_000001.11:205169572:C:T Identity +NM_000264.5:c.2341G>C NP_000255.2:p.Val781Leu NC_000009.12:95467334:C:G p.(Val781Leu) NC_000009.12:95467334:C:G p.(Val781Leu) NC_000009.12:95467334:C:G Identity +NM_206933.4:c.10073G>C NP_996816.3:p.Cys3358Ser NC_000001.11:215790167:C:G p.(Cys3358Ser) NC_000001.11:215790167:C:G p.(Cys3358Ser) NC_000001.11:215790167:C:G Identity +NM_001363989.1:c.775C>T NP_001350918.1:p.Arg259Cys NC_000005.10:150250728:G:A p.(Arg259Cys) NC_000005.10:150250728:G:A p.(Arg259Cys) NC_000005.10:150250728:G:A Identity +NM_000175.5:c.16C>T NP_000166.2:p.Arg6Trp NC_000019.10:34365281:C:T p.(Arg6Trp) NC_000019.10:34365281:C:T p.(Arg6Trp) NC_000019.10:34365281:C:T Identity +NM_000243.3:c.74A>C NP_000234.1:p.Lys25Thr NC_000016.10:3256513:T:G p.(Lys25Thr) NC_000016.10:3256513:T:G p.(Lys25Thr) NC_000016.10:3256513:T:G Identity +NM_001141973.3:c.3486C>G NP_001135445.1:p.Ala1162= NC_000001.11:16986262:G:C p.(Ala1162=) NC_000001.11:16986262:G:C p.(Ala1162=) NC_000001.11:16986262:G:C Identity +NM_005045.4:c.10100A>G NP_005036.2:p.Asn3367Ser NC_000007.14:103483733:T:C p.(Asn3367Ser) NC_000007.14:103483733:T:C p.(Asn3367Ser) NC_000007.14:103483733:T:C Identity +NM_000138.5:c.6880G>A NP_000129.3:p.Glu2294Lys NC_000015.10:48428462:C:T p.(Glu2294Lys) NC_000015.10:48428462:C:T p.(Glu2294Lys) NC_000015.10:48428462:C:T Identity +NM_000384.3:c.967G>A NP_000375.3:p.Glu323Lys NC_000002.12:21033455:C:T p.(Glu323Lys) NC_000002.12:21033455:C:T p.(Glu323Lys) NC_000002.12:21033455:C:T Identity +NM_001005407.2:c.3550G>A NP_001005407.1:p.Ala1184Thr NC_000016.10:1209217:G:A p.(Ala1184Thr) NC_000016.10:1209217:G:A p.(Ala1184Thr) NC_000016.10:1209217:G:A Identity +NM_001256850.1:c.42189G>A NP_001243779.1:p.Trp14063Ter NC_000002.12:178618345:C:T p.(Trp14063Ter) NC_000002.12:178618345:C:T p.(Trp14063Ter) NC_000002.12:178618345:C:T Identity +NM_001369512.1:c.191T>C NP_001356441.1:p.Ile64Thr NC_000017.11:42346650:A:G p.(Ile64Thr) NC_000017.11:42346650:A:G p.(Ile64Thr) NC_000017.11:42346650:A:G Identity +NM_001037343.2:c.2255_2259dup NP_001032420.1:p.Pro754fs NC_000023.11:18613251:AAGACAA:AAGACAAGACAA p.(Pro754AspfsTer32) NC_000023.11:18613251:AAGACAA:AAGACAAGACAA p.(Pro754AspfsTer32) ERR:SPDI Analogous +NM_001008844.3:c.1913C>T NP_001008844.1:p.Thr638Ile NC_000006.12:7571850:C:T p.(Thr638Ile) NC_000006.12:7571850:C:T p.(Thr638Ile) NC_000006.12:7571850:C:T Identity +NM_001424113.1:c.6871A>C NP_001411042.1:p.Thr2291Pro NC_000006.12:75123947:T:G p.(Thr2291Pro) NC_000006.12:75123947:T:G p.(Thr2291Pro) NC_000006.12:75123947:T:G Identity +NM_000168.6:c.4483G>A NP_000159.3:p.Asp1495Asn NC_000007.14:41964589:C:T p.(Asp1495Asn) NC_000007.14:41964589:C:T p.(Asp1495Asn) NC_000007.14:41964589:C:T Identity +NM_001351527.2:c.5453T>C NP_001338456.1:p.Ile1818Thr NC_000009.12:132300724:A:G p.(Ile1818Thr) NC_000009.12:132300724:A:G p.(Ile1818Thr) NC_000009.12:132300724:A:G Identity +NM_001135040.3:c.3436A>G NP_001128512.1:p.Ile1146Val NC_000002.12:74363011:T:C p.(Ile1146Val) NC_000002.12:74363011:T:C p.(Ile1146Val) NC_000002.12:74363011:T:C Identity +NM_001256850.1:c.100732C>T NP_001243779.1:p.Gln33578Ter NC_000002.12:178530959:G:A p.(Gln33578Ter) NC_000002.12:178530959:G:A p.(Gln33578Ter) NC_000002.12:178530959:G:A Identity +NM_000604.2:c.2407G>A NP_000595.1:p.Glu803Lys NC_000008.11:38413689:C:T ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001365536.1:c.3839A>C NP_001352465.1:p.Tyr1280Ser NC_000002.12:166233424:T:G p.(Tyr1280Ser) NC_000002.12:166233424:T:G p.(Tyr1280Ser) NC_000002.12:166233424:T:G Identity +NM_000069.3:c.4456G>A NP_000060.2:p.Ala1486Thr NC_000001.11:201047611:C:T p.(Ala1486Thr) NC_000001.11:201047611:C:T p.(Ala1486Thr) NC_000001.11:201047611:C:T Identity +NM_001142298.2:c.692C>T NP_001135770.1:p.Ala231Val NC_000005.10:179833220:C:T p.(Ala231Val) NC_000005.10:179833220:C:T p.(Ala231Val) NC_000005.10:179833220:C:T Identity +NM_001135040.3:c.1642G>A NP_001128512.1:p.Ala548Thr NC_000002.12:74368879:C:T p.(Ala548Thr) NC_000002.12:74368879:C:T p.(Ala548Thr) NC_000002.12:74368879:C:T Identity +NM_000345.4:c.31G>T NP_000336.1:p.Ala11Ser NC_000004.12:89835636:C:A p.(Ala11Ser) NC_000004.12:89835636:C:A p.(Ala11Ser) NC_000004.12:89835636:C:A Identity +NM_001040142.2:c.4757G>A NP_001035232.1:p.Arg1586His NC_000002.12:165386950:G:A p.(Arg1586His) NC_000002.12:165386950:G:A p.(Arg1586His) NC_000002.12:165386950:G:A Identity +NM_001814.6:c.890G>T NP_001805.4:p.Gly297Val NC_000011.10:88294507:C:A p.(Gly297Val) NC_000011.10:88294507:C:A p.(Gly297Val) NC_000011.10:88294507:C:A Identity +NM_001293557.2:c.2917del NP_001280486.1:p.Ala973fs NC_000016.10:50729845:GGGG:GGG p.(Ala973GlnfsTer26) NC_000016.10:50729845:GGGG:GGG p.(Ala973GlnfsTer26) NC_000016.10:50729848:G: Analogous +NM_000044.6:c.2169G>T NP_000035.2:p.Leu723Phe NC_000023.11:67711684:G:T p.(Leu723Phe) NC_000023.11:67711684:G:T p.(Leu723Phe) NC_000023.11:67711684:G:T Identity +NM_000068.4:c.2452G>A NP_000059.3:p.Asp818Asn NC_000019.10:13299192:C:T p.(Asp818Asn) NC_000019.10:13299192:C:T p.(Asp818Asn) NC_000019.10:13299192:C:T Identity +NM_015512.5:c.6970G>A NP_056327.4:p.Asp2324Asn NC_000003.12:52373037:G:A p.(Asp2324Asn) NC_000003.12:52373037:G:A p.(Asp2324Asn) NC_000003.12:52373037:G:A Identity +NM_001256053.2:c.82G>C NP_001242982.1:p.Gly28Arg NC_000010.11:27100244:C:G p.(Gly28Arg) NC_000010.11:27100244:C:G p.(Gly28Arg) NC_000010.11:27100244:C:G Identity +NM_000392.5:c.2556del NP_000383.2:p.Gly853fs NC_000010.11:99819199:AAAAAA:AAAAA p.(Gly853GlufsTer7) NC_000010.11:99819199:AAAAAA:AAAAA p.(Gly853GlufsTer7) NC_000010.11:99819204:A: Analogous +NM_031307.4:c.55C>T NP_112597.4:p.Arg19Ter NC_000011.10:125896229:G:A p.(Arg19Ter) NC_000011.10:125896229:G:A p.(Arg19Ter) NC_000011.10:125896229:G:A Identity +NM_001168407.2:c.1186C>T NP_001161879.1:p.Pro396Ser NC_000006.12:72252825:C:T p.(Pro396Ser) NC_000006.12:72252825:C:T p.(Pro396Ser) NC_000006.12:72252825:C:T Identity +NM_000492.4:c.2380G>C NP_000483.3:p.Val794Leu NC_000007.14:117592546:G:C p.(Val794Leu) NC_000007.14:117592546:G:C p.(Val794Leu) NC_000007.14:117592546:G:C Identity +NM_000257.4:c.3359A>C NP_000248.2:p.Glu1120Ala NC_000014.9:23420211:T:G p.(Glu1120Ala) NC_000014.9:23420211:T:G p.(Glu1120Ala) NC_000014.9:23420211:T:G Identity +NM_021629.4:c.449G>A NP_067642.1:p.Arg150His NC_000003.12:179413762:C:T p.(Arg150His) NC_000003.12:179413762:C:T p.(Arg150His) NC_000003.12:179413762:C:T Identity +NM_000193.4:c.52G>T NP_000184.1:p.Val18Leu NC_000007.14:155812070:C:A p.(Val18Leu) NC_000007.14:155812070:C:A p.(Val18Leu) NC_000007.14:155812070:C:A Identity +NM_001099952.4:c.5323G>A NP_001093422.2:p.Ala1775Thr NC_000003.12:4735276:G:A p.(Ala1775Thr) NC_000003.12:4735276:G:A p.(Ala1775Thr) NC_000003.12:4735276:G:A Identity +NM_000335.5:c.2822C>T NP_000326.2:p.Ser941Phe NC_000003.12:38581336:G:A p.(Ser941Phe) NC_000003.12:38581336:G:A p.(Ser941Phe) NC_000003.12:38581336:G:A Identity +NM_001129765.2:c.460G>A NP_001123237.1:p.Asp154Asn NC_000023.11:152862640:G:A p.(Asp154Asn) NC_000023.11:152862640:G:A p.(Asp154Asn) NC_000023.11:152862640:G:A Identity +NM_001353229.2:c.31T>C NP_001340158.1:p.Cys11Arg NC_000017.11:17228106:A:G p.(Cys11Arg) NC_000017.11:17228106:A:G p.(Cys11Arg) NC_000017.11:17228106:A:G Identity +NM_000140.5:c.949G>A NP_000131.2:p.Glu317Lys NC_000018.10:57554387:C:T p.(Glu317Lys) NC_000018.10:57554387:C:T p.(Glu317Lys) NC_000018.10:57554387:C:T Identity +NM_016107.5:c.1537A>G NP_057191.2:p.Thr513Ala NC_000005.10:32400182:T:C p.(Thr513Ala) NC_000005.10:32400182:T:C p.(Thr513Ala) NC_000005.10:32400182:T:C Identity +NM_017617.5:c.5899G>A NP_060087.3:p.Ala1967Thr NC_000009.12:136500586:C:T p.(Ala1967Thr) NC_000009.12:136500586:C:T p.(Ala1967Thr) NC_000009.12:136500586:C:T Identity +NM_001271068.2:c.77G>A NP_001257997.1:p.Arg26His NC_000014.9:65093774:C:T p.(Arg26His) NC_000014.9:65093774:C:T p.(Arg26His) NC_000014.9:65093774:C:T Identity +NM_000391.4:c.496del NP_000382.3:p.His166fs NC_000011.10:6617312:GGGGGG:GGGGG p.(His166MetfsTer17) NC_000011.10:6617312:GGGGGG:GGGGG p.(His166MetfsTer17) NC_000011.10:6617312:G: Analogous +NM_000264.5:c.1903G>C NP_000255.2:p.Asp635His NC_000009.12:95469097:C:G p.(Asp635His) NC_000009.12:95469097:C:G p.(Asp635His) NC_000009.12:95469097:C:G Identity +NM_001039885.3:c.1208dup NP_001034974.1:p.Arg404fs NC_000019.10:46756653:TTTTT:TTTTTT p.(Arg404ProfsTer60) NC_000019.10:46756653:TTTTT:TTTTTT p.(Arg404ProfsTer60) ERR:SPDI Analogous +NM_001127384.3:c.16C>T NP_001120856.1:p.Pro6Ser NC_000010.11:67647497:G:A p.(Pro6Ser) NC_000010.11:67647497:G:A p.(Pro6Ser) NC_000010.11:67647497:G:A Identity +NM_001411025.1:c.1919G>A NP_001397954.1:p.Arg640Gln NC_000011.10:66705377:C:T p.(Arg640Gln) NC_000011.10:66705377:C:T p.(Arg640Gln) NC_000011.10:66705377:C:T Identity +NM_000425.5:c.2839G>A NP_000416.1:p.Val947Met NC_000023.11:153865120:C:T p.(Val947Met) NC_000023.11:153865120:C:T p.(Val947Met) NC_000023.11:153865120:C:T Identity +NM_001018073.3:c.718G>A NP_001018083.2:p.Val240Met NC_000014.9:24099101:G:A p.(Val240Met) NC_000014.9:24099101:G:A p.(Val240Met) NC_000014.9:24099101:G:A Identity +NM_001286957.2:c.539_542del NP_001273886.1:p.Val180fs NC_000012.12:48918842:AGTCAG:AG p.(Val180AspfsTer13) NC_000012.12:48918842:AGTCAG:AG p.(Val180AspfsTer13) NC_000012.12:48918844:TCAG: Analogous +NM_003482.4:c.9001A>G NP_003473.3:p.Lys3001Glu NC_000012.12:49038354:T:C p.(Lys3001Glu) NC_000012.12:49038354:T:C p.(Lys3001Glu) NC_000012.12:49038354:T:C Identity +NM_001165895.2:c.674C>T NP_001159367.1:p.Ala225Val NC_000019.10:8302511:G:A p.(Ala225Val) NC_000019.10:8302511:G:A p.(Ala225Val) NC_000019.10:8302511:G:A Identity +NM_000218.3:c.474G>C NP_000209.2:p.Trp158Cys NC_000011.10:2528014:G:C p.(Trp158Cys) NC_000011.10:2528014:G:C p.(Trp158Cys) NC_000011.10:2528014:G:C Identity +NM_000425.5:c.2927G>A NP_000416.1:p.Arg976Gln NC_000023.11:153864939:C:T p.(Arg976Gln) NC_000023.11:153864939:C:T p.(Arg976Gln) NC_000023.11:153864939:C:T Identity +NM_001130066.2:c.2723G>A NP_001123538.1:p.Arg908Gln NC_000006.12:33443316:G:A p.(Arg908Gln) NC_000006.12:33443316:G:A p.(Arg908Gln) NC_000006.12:33443316:G:A Identity +NM_017780.4:c.1851A>C NP_060250.2:p.Lys617Asn NC_000008.11:60781184:A:C p.(Lys617Asn) NC_000008.11:60781184:A:C p.(Lys617Asn) NC_000008.11:60781184:A:C Identity +NM_000535.7:c.343T>G NP_000526.2:p.Cys115Gly NC_000007.14:6003699:A:C p.(Cys115Gly) NC_000007.14:6003699:A:C p.(Cys115Gly) NC_000007.14:6003699:A:C Identity +NM_000553.6:c.1666G>A NP_000544.2:p.Val556Met NC_000008.11:31090477:G:A p.(Val556Met) NC_000008.11:31090477:G:A p.(Val556Met) NC_000008.11:31090477:G:A Identity +NM_001322902.2:c.403C>T NP_001309831.1:p.Arg135Cys NC_000020.11:10297045:C:T p.(Arg135Cys) NC_000020.11:10297045:C:T p.(Arg135Cys) NC_000020.11:10297045:C:T Identity +NM_005630.3:c.1372G>T NP_005621.2:p.Val458Phe NC_000003.12:133945183:C:A p.(Val458Phe) NC_000003.12:133945183:C:A p.(Val458Phe) NC_000003.12:133945183:C:A Identity +NM_001406489.1:c.1432T>C NP_001393418.1:p.Phe478Leu NC_000012.12:51919169:T:C p.(Phe478Leu) NC_000012.12:51919169:T:C p.(Phe478Leu) NC_000012.12:51919169:T:C Identity +NM_001142864.4:c.7366C>A NP_001136336.2:p.Arg2456Ser NC_000016.10:88715804:G:T p.(Arg2456Ser) NC_000016.10:88715804:G:T p.(Arg2456Ser) NC_000016.10:88715804:G:T Identity +NM_138477.4:c.1384G>A NP_612486.2:p.Val462Met NC_000015.10:42733169:C:T p.(Val462Met) NC_000015.10:42733169:C:T p.(Val462Met) NC_000015.10:42733169:C:T Identity +NM_001079669.4:c.518C>T NP_001073137.1:p.Ala173Val NC_000013.11:100656445:G:A p.(Ala173Val) NC_000013.11:100656445:G:A p.(Ala173Val) NC_000013.11:100656445:G:A Identity +NM_000248.4:c.950A>G NP_000239.1:p.Gln317Arg NC_000003.12:69964937:A:G p.(Gln317Arg) NC_000003.12:69964937:A:G p.(Gln317Arg) NC_000003.12:69964937:A:G Identity +NM_001193640.2:c.3202G>T NP_001180569.1:p.Glu1068Ter NC_000001.11:197435400:G:T p.(Glu1068Ter) NC_000001.11:197435400:G:T p.(Glu1068Ter) NC_000001.11:197435400:G:T Identity +NM_001363907.1:c.1058A>T NP_001350836.1:p.Asp353Val NC_000016.10:85920147:A:T p.(Asp353Val) NC_000016.10:85920147:A:T p.(Asp353Val) NC_000016.10:85920147:A:T Identity +NM_001294332.2:c.1104C>G NP_001281261.1:p.Asn368Lys NC_000005.10:235326:C:G p.(Asn368Lys) NC_000005.10:235326:C:G p.(Asn368Lys) NC_000005.10:235326:C:G Identity +NM_000112.4:c.567dup NP_000103.2:p.Ser190Ter NC_000005.10:149978218:T:TT p.(Ser190Ter) NC_000005.10:149978218:T:TT p.(Ser190Ter) ERR:SPDI Identity +NM_001283009.2:c.1637G>A NP_001269938.1:p.Gly546Asp NC_000020.11:63688300:G:A p.(Gly546Asp) NC_000020.11:63688300:G:A p.(Gly546Asp) NC_000020.11:63688300:G:A Identity +NM_001378923.1:c.826G>C NP_001365852.1:p.Asp276His NC_000009.12:35794055:G:C p.(Asp276His) NC_000009.12:35794055:G:C p.(Asp276His) NC_000009.12:35794055:G:C Identity +NM_012186.3:c.705del NP_036318.1:p.Glu236fs NC_000001.11:47417015:CCCCC:CCCC p.(Glu236SerfsTer71) NC_000001.11:47417015:CCCCC:CCCC p.(Glu236SerfsTer71) NC_000001.11:47417019:C: Analogous +NM_001079812.3:c.2780G>A NP_001073280.1:p.Arg927His NC_000005.10:141528912:C:T p.(Arg927His) NC_000005.10:141528912:C:T p.(Arg927His) NC_000005.10:141528912:C:T Identity +NM_001256850.1:c.59749G>T NP_001243779.1:p.Asp19917Tyr NC_000002.12:178585071:C:A p.(Asp19917Tyr) NC_000002.12:178585071:C:A p.(Asp19917Tyr) NC_000002.12:178585071:C:A Identity +NM_002049.4:c.821G>T NP_002040.1:p.Ser274Ile NC_000023.11:48793247:G:T p.(Ser274Ile) NC_000023.11:48793247:G:T p.(Ser274Ile) NC_000023.11:48793247:G:T Identity +NM_001382708.1:c.43C>G NP_001369637.1:p.Arg15Gly NC_000002.12:219418504:C:G p.(Arg15Gly) NC_000002.12:219418504:C:G p.(Arg15Gly) NC_000002.12:219418504:C:G Identity +NM_005236.3:c.2656A>G NP_005227.1:p.Ser886Gly NC_000016.10:13948251:A:G p.(Ser886Gly) NC_000016.10:13948251:A:G p.(Ser886Gly) NC_000016.10:13948251:A:G Identity +NM_005045.4:c.6367A>G NP_005036.2:p.Ile2123Val NC_000007.14:103545279:T:C p.(Ile2123Val) NC_000007.14:103545279:T:C p.(Ile2123Val) NC_000007.14:103545279:T:C Identity +NM_001972.4:c.724A>T NP_001963.1:p.Ile242Phe NC_000019.10:856083:A:T p.(Ile242Phe) NC_000019.10:856083:A:T p.(Ile242Phe) NC_000019.10:856083:A:T Identity +NM_000161.3:c.154G>T NP_000152.1:p.Gly52Cys NC_000014.9:54902509:C:A p.(Gly52Cys) NC_000014.9:54902509:C:A p.(Gly52Cys) NC_000014.9:54902509:C:A Identity +NM_001272003.2:c.1738A>G NP_001258932.1:p.Ile580Val NC_000009.12:135770959:A:G p.(Ile580Val) NC_000009.12:135770959:A:G p.(Ile580Val) NC_000009.12:135770959:A:G Identity +NM_000168.6:c.3698A>G NP_000159.3:p.Asn1233Ser NC_000007.14:41965374:T:C p.(Asn1233Ser) NC_000007.14:41965374:T:C p.(Asn1233Ser) NC_000007.14:41965374:T:C Identity +NM_001005407.2:c.5392G>A NP_001005407.1:p.Val1798Met NC_000016.10:1218004:G:A p.(Val1798Met) NC_000016.10:1218004:G:A p.(Val1798Met) NC_000016.10:1218004:G:A Identity +NM_080645.3:c.3279C>G NP_542376.2:p.His1093Gln NC_000006.12:75124047:G:C p.(His1093Gln) NC_000006.12:75124047:G:C p.(His1093Gln) NC_000006.12:75124047:G:C Identity +NM_001282902.3:c.149C>T NP_001269831.1:p.Thr50Met NC_000008.11:115619921:G:A p.(Thr50Met) NC_000008.11:115619921:G:A p.(Thr50Met) NC_000008.11:115619921:G:A Identity +NM_000384.3:c.4795C>T NP_000375.3:p.Arg1599Cys NC_000002.12:21012072:G:A p.(Arg1599Cys) NC_000002.12:21012072:G:A p.(Arg1599Cys) NC_000002.12:21012072:G:A Identity +NM_004281.4:c.262C>G NP_004272.2:p.Gln88Glu NC_000010.11:119669931:C:G p.(Gln88Glu) NC_000010.11:119669931:C:G p.(Gln88Glu) NC_000010.11:119669931:C:G Identity +NM_000384.3:c.2156T>C NP_000375.3:p.Leu719Ser NC_000002.12:21026875:A:G p.(Leu719Ser) NC_000002.12:21026875:A:G p.(Leu719Ser) NC_000002.12:21026875:A:G Identity +NM_001276503.2:c.154T>G NP_001263432.1:p.Ser52Ala NC_000011.10:112087957:T:G p.(Ser52Ala) NC_000011.10:112087957:T:G p.(Ser52Ala) NC_000011.10:112087957:T:G Identity +NM_022168.4:c.2056A>G NP_071451.2:p.Met686Val NC_000002.12:162276934:T:C p.(Met686Val) NC_000002.12:162276934:T:C p.(Met686Val) NC_000002.12:162276934:T:C Identity +NM_000445.5:c.7367C>T NP_000436.2:p.Thr2456Ile NC_000008.11:143922642:G:A p.(Thr2456Ile) NC_000008.11:143922642:G:A p.(Thr2456Ile) NC_000008.11:143922642:G:A Identity +NM_001127487.2:c.6514G>A NP_001120959.1:p.Val2172Met NC_000007.14:128854101:G:A p.(Val2172Met) NC_000007.14:128854101:G:A p.(Val2172Met) NC_000007.14:128854101:G:A Identity +NM_001134477.3:c.1273A>G NP_001127949.1:p.Ser425Gly NC_000016.10:14552044:T:C p.(Ser425Gly) NC_000016.10:14552044:T:C p.(Ser425Gly) NC_000016.10:14552044:T:C Identity +NM_001242466.2:c.326G>A NP_001229395.1:p.Arg109His NC_000005.10:68293823:G:A p.(Arg109His) NC_000005.10:68293823:G:A p.(Arg109His) NC_000005.10:68293823:G:A Identity +NM_000138.5:c.3321G>A NP_000129.3:p.Met1107Ile NC_000015.10:48488128:C:T p.(Met1107Ile) NC_000015.10:48488128:C:T p.(Met1107Ile) NC_000015.10:48488128:C:T Identity +NM_033071.5:c.19640C>T NP_149062.2:p.Ser6547Phe NC_000006.12:152242279:G:A p.(Ser6547Phe) NC_000006.12:152242279:G:A p.(Ser6547Phe) NC_000006.12:152242279:G:A Identity +NM_001349253.2:c.1919G>A NP_001336182.1:p.Gly640Asp NC_000003.12:38899996:C:T p.(Gly640Asp) NC_000003.12:38899996:C:T p.(Gly640Asp) NC_000003.12:38899996:C:T Identity +NM_001199138.2:c.1680T>G NP_001186067.1:p.His560Gln NC_000002.12:32250183:A:C p.(His560Gln) NC_000002.12:32250183:A:C p.(His560Gln) NC_000002.12:32250183:A:C Identity +NM_001110556.2:c.6596G>C NP_001104026.1:p.Cys2199Ser NC_000023.11:154352353:C:G p.(Cys2199Ser) NC_000023.11:154352353:C:G p.(Cys2199Ser) NC_000023.11:154352353:C:G Identity +NM_001282902.3:c.2080A>C NP_001269831.1:p.Ser694Arg NC_000008.11:115587593:T:G p.(Ser694Arg) NC_000008.11:115587593:T:G p.(Ser694Arg) NC_000008.11:115587593:T:G Identity +NM_024753.5:c.1479_1482del NP_079029.3:p.Thr494fs NC_000002.12:165924582:TGTTTG:TG p.(Thr494SerfsTer3) NC_000002.12:165924582:TGTTTG:TG p.(Thr494SerfsTer3) NC_000002.12:165924582:TGTT: Analogous +NM_001244008.2:c.1856C>A NP_001230937.1:p.Ala619Glu NC_000002.12:240763258:G:T p.(Ala619Glu) NC_000002.12:240763258:G:T p.(Ala619Glu) NC_000002.12:240763258:G:T Identity +NM_000445.5:c.12301GAG[1] NP_000436.2:p.Glu4102del NC_000008.11:143917595:CTCCTC:CTC p.(Glu4102del) NC_000008.11:143917600:C:CTC ERR:Parse ERR:Parse Identity +NM_001144769.5:c.10603G>A NP_001138241.1:p.Asp3535Asn NC_000006.12:56532491:C:T p.(Asp3535Asn) NC_000006.12:56532491:C:T p.(Asp3535Asn) NC_000006.12:56532491:C:T Identity +NM_001184985.2:c.2260G>T NP_001171914.1:p.Val754Leu NC_000012.12:867985:G:T p.(Val754Leu) NC_000012.12:867985:G:T p.(Val754Leu) NC_000012.12:867985:G:T Identity +NM_001282902.3:c.626T>G NP_001269831.1:p.Leu209Arg NC_000008.11:115619444:A:C p.(Leu209Arg) NC_000008.11:115619444:A:C p.(Leu209Arg) NC_000008.11:115619444:A:C Identity +NM_001363907.1:c.940G>A NP_001350836.1:p.Val314Met NC_000016.10:85918724:G:A p.(Val314Met) NC_000016.10:85918724:G:A p.(Val314Met) NC_000016.10:85918724:G:A Identity +NM_000168.6:c.1457G>C NP_000159.3:p.Gly486Ala NC_000007.14:42023507:C:G p.(Gly486Ala) NC_000007.14:42023507:C:G p.(Gly486Ala) NC_000007.14:42023507:C:G Identity +NM_005045.4:c.10015A>C NP_005036.2:p.Met3339Leu NC_000007.14:103483818:T:G p.(Met3339Leu) NC_000007.14:103483818:T:G p.(Met3339Leu) NC_000007.14:103483818:T:G Identity +NM_001008844.3:c.2276_2277insA NP_001008844.1:p.Thr760fs NC_000006.12:7574231::A p.(Thr760TyrfsTer7) NC_000006.12:7574230:T:A p.(Thr760TyrfsTer7) NC_000006.12:7574231:TT:A Analogous +NM_001127649.3:c.472G>A NP_001121121.1:p.Ala158Thr NC_000022.11:18083536:G:A p.(Ala158Thr) NC_000022.11:18083536:G:A p.(Ala158Thr) NC_000022.11:18083536:G:A Identity +NM_001110556.2:c.3256G>T NP_001104026.1:p.Ala1086Ser NC_000023.11:154360538:C:A p.(Ala1086Ser) NC_000023.11:154360538:C:A p.(Ala1086Ser) NC_000023.11:154360538:C:A Identity +NM_001142298.2:c.988A>T NP_001135770.1:p.Thr330Ser NC_000005.10:179836509:A:T p.(Thr330Ser) NC_000005.10:179836509:A:T p.(Thr330Ser) NC_000005.10:179836509:A:T Identity +NM_001282902.3:c.2497G>A NP_001269831.1:p.Asp833Asn NC_000008.11:115587176:C:T p.(Asp833Asn) NC_000008.11:115587176:C:T p.(Asp833Asn) NC_000008.11:115587176:C:T Identity +NM_001005407.2:c.3529G>A NP_001005407.1:p.Asp1177Asn NC_000016.10:1209196:G:A p.(Asp1177Asn) NC_000016.10:1209196:G:A p.(Asp1177Asn) NC_000016.10:1209196:G:A Identity +NM_000161.3:c.418A>G NP_000152.1:p.Met140Val NC_000014.9:54865361:T:C p.(Met140Val) NC_000014.9:54865361:T:C p.(Met140Val) NC_000014.9:54865361:T:C Identity +NM_000445.5:c.9751C>T NP_000436.2:p.Leu3251Phe NC_000008.11:143920150:G:A p.(Leu3251Phe) NC_000008.11:143920150:G:A p.(Leu3251Phe) NC_000008.11:143920150:G:A Identity +NM_000384.3:c.3001T>G NP_000375.3:p.Leu1001Val NC_000002.12:21019111:A:C p.(Leu1001Val) NC_000002.12:21019111:A:C p.(Leu1001Val) NC_000002.12:21019111:A:C Identity +NM_000069.3:c.853G>C NP_000060.2:p.Val285Leu NC_000001.11:201089304:C:G p.(Val285Leu) NC_000001.11:201089304:C:G p.(Val285Leu) NC_000001.11:201089304:C:G Identity +NM_004990.4:c.165C>G NP_004981.2:p.Ser55Arg NC_000012.12:57489073:C:G p.(Ser55Arg) NC_000012.12:57489073:C:G p.(Ser55Arg) NC_000012.12:57489073:C:G Identity +NM_001184985.2:c.6613C>A NP_001171914.1:p.Arg2205Ser NC_000012.12:896319:C:A p.(Arg2205Ser) NC_000012.12:896319:C:A p.(Arg2205Ser) NC_000012.12:896319:C:A Identity +NM_001134477.3:c.1732T>C NP_001127949.1:p.Trp578Arg NC_000016.10:14436721:A:G p.(Trp578Arg) NC_000016.10:14436721:A:G p.(Trp578Arg) NC_000016.10:14436721:A:G Identity +NM_005236.3:c.2277T>G NP_005227.1:p.Ile759Met NC_000016.10:13947872:T:G p.(Ile759Met) NC_000016.10:13947872:T:G p.(Ile759Met) NC_000016.10:13947872:T:G Identity +NM_001017423.2:c.293T>C NP_001017423.1:p.Ile98Thr NC_000010.11:95643001:A:G p.(Ile98Thr) NC_000010.11:95643001:A:G p.(Ile98Thr) NC_000010.11:95643001:A:G Identity +NM_015512.5:c.9041C>T NP_056327.4:p.Pro3014Leu NC_000003.12:52388203:C:T p.(Pro3014Leu) NC_000003.12:52388203:C:T p.(Pro3014Leu) NC_000003.12:52388203:C:T Identity +NM_001256850.1:c.99232G>A NP_001243779.1:p.Val33078Met NC_000002.12:178532459:C:T p.(Val33078Met) NC_000002.12:178532459:C:T p.(Val33078Met) NC_000002.12:178532459:C:T Identity +NM_005045.4:c.9233A>G NP_005036.2:p.Asn3078Ser NC_000007.14:103495858:T:C p.(Asn3078Ser) NC_000007.14:103495858:T:C p.(Asn3078Ser) NC_000007.14:103495858:T:C Identity +NM_001424113.1:c.4612A>G NP_001411042.1:p.Asn1538Asp NC_000006.12:75145403:T:C p.(Asn1538Asp) NC_000006.12:75145403:T:C p.(Asn1538Asp) NC_000006.12:75145403:T:C Identity +NM_000112.4:c.1381G>T NP_000103.2:p.Ala461Ser NC_000005.10:149980973:G:T p.(Ala461Ser) NC_000005.10:149980973:G:T p.(Ala461Ser) NC_000005.10:149980973:G:T Identity +NM_001164673.2:c.751G>C NP_001158145.1:p.Gly251Arg NC_000004.12:3489785:G:C p.(Gly251Arg) NC_000004.12:3489785:G:C p.(Gly251Arg) NC_000004.12:3489785:G:C Identity +NM_001007565.2:c.923C>T NP_001007566.1:p.Pro308Leu NC_000003.12:100748250:C:T p.(Pro308Leu) NC_000003.12:100748250:C:T p.(Pro308Leu) NC_000003.12:100748250:C:T Identity +NM_001142649.2:c.2252C>T NP_001136121.1:p.Thr751Met NC_000011.10:22274587:C:T p.(Thr751Met) NC_000011.10:22274587:C:T p.(Thr751Met) NC_000011.10:22274587:C:T Identity +NM_001184985.2:c.2795C>T NP_001171914.1:p.Pro932Leu NC_000012.12:868520:C:T p.(Pro932Leu) NC_000012.12:868520:C:T p.(Pro932Leu) NC_000012.12:868520:C:T Identity +NM_001007565.2:c.709G>A NP_001007566.1:p.Gly237Ser NC_000003.12:100736703:G:A p.(Gly237Ser) NC_000003.12:100736703:G:A p.(Gly237Ser) NC_000003.12:100736703:G:A Identity +NM_001103.4:c.801C>G NP_001094.1:p.Asn267Lys NC_000001.11:236737138:C:G p.(Asn267Lys) NC_000001.11:236737138:C:G p.(Asn267Lys) NC_000001.11:236737138:C:G Identity +NM_001166280.2:c.1776_1777del NP_001159752.1:p.His594fs NC_000009.12:110800411:CA: p.(His594GlnfsTer2) NC_000009.12:110800411:CA: p.(His594GlnfsTer2) NC_000009.12:110800411:CA: Analogous +NM_000182.5:c.1231_1235del NP_000173.2:p.Lys411fs NC_000002.12:26201305:ACTTT: p.(Lys411GlufsTer9) NC_000002.12:26201305:ACTTT: p.(Lys411GlufsTer9) NC_000002.12:26201305:ACTTT: Analogous +NM_001160302.2:c.596C>T NP_001153774.1:p.Ala199Val NC_000021.9:32695165:G:A p.(Ala199Val) NC_000021.9:32695165:G:A p.(Ala199Val) NC_000021.9:32695165:G:A Identity +NM_001005407.2:c.403A>G NP_001005407.1:p.Ile135Val NC_000016.10:1195074:A:G p.(Ile135Val) NC_000016.10:1195074:A:G p.(Ile135Val) NC_000016.10:1195074:A:G Identity +NM_000388.4:c.1377G>T NP_000379.3:p.Gln459His NC_000003.12:122262411:G:T p.(Gln459His) NC_000003.12:122262411:G:T p.(Gln459His) NC_000003.12:122262411:G:T Identity +NM_001424113.1:c.6382T>C NP_001411042.1:p.Trp2128Arg NC_000006.12:75126428:A:G p.(Trp2128Arg) NC_000006.12:75126428:A:G p.(Trp2128Arg) NC_000006.12:75126428:A:G Identity +NM_000069.3:c.4633G>A NP_000060.2:p.Gly1545Ser NC_000001.11:201047149:C:T p.(Gly1545Ser) NC_000001.11:201047149:C:T p.(Gly1545Ser) NC_000001.11:201047149:C:T Identity +NM_001079812.3:c.730C>G NP_001073280.1:p.Pro244Ala NC_000005.10:141580810:G:C p.(Pro244Ala) NC_000005.10:141580810:G:C p.(Pro244Ala) NC_000005.10:141580810:G:C Identity +NM_001276504.2:c.56G>A NP_001263433.1:p.Gly19Asp NC_000011.10:112088869:G:A p.(Gly19Asp) NC_000011.10:112088869:G:A p.(Gly19Asp) NC_000011.10:112088869:G:A Identity +NM_001371271.1:c.4408C>T NP_001358200.1:p.Arg1470Trp NC_000002.12:120990321:C:T p.(Arg1470Trp) NC_000002.12:120990321:C:T p.(Arg1470Trp) NC_000002.12:120990321:C:T Identity +NM_000388.4:c.1493C>A NP_000379.3:p.Pro498Gln NC_000003.12:122275926:C:A p.(Pro498Gln) NC_000003.12:122275926:C:A p.(Pro498Gln) NC_000003.12:122275926:C:A Identity +NM_001134477.3:c.329T>C NP_001127949.1:p.Val110Ala NC_000016.10:14610685:A:G p.(Val110Ala) NC_000016.10:14610685:A:G p.(Val110Ala) NC_000016.10:14610685:A:G Identity +NM_001008844.3:c.2042A>G NP_001008844.1:p.His681Arg NC_000006.12:7571979:A:G p.(His681Arg) NC_000006.12:7571979:A:G p.(His681Arg) NC_000006.12:7571979:A:G Identity +NM_001031714.4:c.2122C>A NP_001026884.3:p.Leu708Met NC_000014.9:104709688:C:A p.(Leu708Met) NC_000014.9:104709688:C:A p.(Leu708Met) NC_000014.9:104709688:C:A Identity +NM_001256850.1:c.99515C>A NP_001243779.1:p.Thr33172Lys NC_000002.12:178532176:G:T p.(Thr33172Lys) NC_000002.12:178532176:G:T p.(Thr33172Lys) NC_000002.12:178532176:G:T Identity +NM_001145661.2:c.219C>G NP_001139133.1:p.Ser73Arg NC_000003.12:128486812:G:C p.(Ser73Arg) NC_000003.12:128486812:G:C p.(Ser73Arg) NC_000003.12:128486812:G:C Identity +NM_001277971.2:c.724dup NP_001264900.1:p.Val242fs NC_000008.11:43122546:GG:GGG p.(Val242GlyfsTer30) NC_000008.11:43122546:GG:GGG p.(Val242GlyfsTer30) ERR:SPDI Analogous +NM_001305005.3:c.1498T>C NP_001291934.1:p.Tyr500His NC_000002.12:108010615:T:C p.(Tyr500His) NC_000002.12:108010615:T:C p.(Tyr500His) NC_000002.12:108010615:T:C Identity +NM_001127487.2:c.2368G>A NP_001120959.1:p.Asp790Asn NC_000007.14:128842676:G:A p.(Asp790Asn) NC_000007.14:128842676:G:A p.(Asp790Asn) NC_000007.14:128842676:G:A Identity +NM_005045.4:c.10189C>T NP_005036.2:p.Arg3397Trp NC_000007.14:103482963:G:A p.(Arg3397Trp) NC_000007.14:103482963:G:A p.(Arg3397Trp) NC_000007.14:103482963:G:A Identity +NM_001306090.2:c.1A>C NP_001293019.1:p.Met1Leu NC_000004.12:5711380:A:C p.(Met1Leu) NC_000004.12:5711380:A:C p.Met1? NC_000004.12:5711380:A:C Identity +NM_001142301.1:c.1699_1708del NP_001135773.1:p.Val567fs NC_000008.11:93797210:AAAGGTTCTTAAAG:AAAG p.(Val567LeufsTer15) NC_000008.11:93797210:AAAGGTTCTTAAAG:AAAG p.(Val567LeufsTer15) NC_000008.11:93797214:GTTCTTAAAG: Analogous +NM_001160306.2:c.4001C>T NP_001153778.1:p.Ala1334Val NC_000021.9:32631574:G:A p.(Ala1334Val) NC_000021.9:32631574:G:A p.(Ala1334Val) NC_000021.9:32631574:G:A Identity +NM_000138.5:c.2567C>T NP_000129.3:p.Thr856Ile NC_000015.10:48495232:G:A p.(Thr856Ile) NC_000015.10:48495232:G:A p.(Thr856Ile) NC_000015.10:48495232:G:A Identity +NM_001369512.1:c.1267C>T NP_001356441.1:p.Arg423Ter NC_000017.11:42329423:G:A p.(Arg423Ter) NC_000017.11:42329423:G:A p.(Arg423Ter) NC_000017.11:42329423:G:A Identity +NM_001257970.1:c.1046C>A NP_001244899.1:p.Ala349Glu NC_000017.11:80190855:C:A p.(Ala349Glu) NC_000017.11:80190855:C:A p.(Ala349Glu) NC_000017.11:80190855:C:A Identity +NM_001127487.2:c.3944del NP_001120959.1:p.Gln1315fs NC_000007.14:128846142:A: p.(Gln1315ArgfsTer30) NC_000007.14:128846142:A: p.(Gln1315ArgfsTer30) NC_000007.14:128846142:A: Analogous +NM_001256850.1:c.101992G>C NP_001243779.1:p.Val33998Leu NC_000002.12:178528835:C:G p.(Val33998Leu) NC_000002.12:178528835:C:G p.(Val33998Leu) NC_000002.12:178528835:C:G Identity +NM_001005407.2:c.6872C>T NP_001005407.1:p.Ser2291Leu NC_000016.10:1220821:C:T p.(Ser2291Leu) NC_000016.10:1220821:C:T p.(Ser2291Leu) NC_000016.10:1220821:C:T Identity +NM_001025107.3:c.2581G>A NP_001020278.1:p.Val861Ile NC_000001.11:154585020:C:T p.(Val861Ile) NC_000001.11:154585020:C:T p.(Val861Ile) NC_000001.11:154585020:C:T Identity +NM_001134477.3:c.10T>A NP_001127949.1:p.Leu4Met NC_000016.10:14627320:A:T p.(Leu4Met) NC_000016.10:14627320:A:T p.(Leu4Met) NC_000016.10:14627320:A:T Identity +NM_000384.3:c.7102T>C NP_000375.3:p.Tyr2368His NC_000002.12:21009765:A:G p.(Tyr2368His) NC_000002.12:21009765:A:G p.(Tyr2368His) NC_000002.12:21009765:A:G Identity +NM_001282902.3:c.2948C>T NP_001269831.1:p.Pro983Leu NC_000008.11:115414932:G:A p.(Pro983Leu) NC_000008.11:115414932:G:A p.(Pro983Leu) NC_000008.11:115414932:G:A Identity +NM_001127487.2:c.6079G>A NP_001120959.1:p.Ala2027Thr NC_000007.14:128853000:G:A p.(Ala2027Thr) NC_000007.14:128853000:G:A p.(Ala2027Thr) NC_000007.14:128853000:G:A Identity +NM_000052.7:c.824A>T NP_000043.4:p.Asn275Ile NC_000023.11:77989445:A:T p.(Asn275Ile) NC_000023.11:77989445:A:T p.(Asn275Ile) NC_000023.11:77989445:A:T Identity +NM_005045.4:c.5224C>T NP_005036.2:p.Arg1742Trp NC_000007.14:103561939:G:A p.(Arg1742Trp) NC_000007.14:103561939:G:A p.(Arg1742Trp) NC_000007.14:103561939:G:A Identity +NM_002049.4:c.797C>T NP_002040.1:p.Thr266Met NC_000023.11:48793223:C:T p.(Thr266Met) NC_000023.11:48793223:C:T p.(Thr266Met) NC_000023.11:48793223:C:T Identity +NM_005045.4:c.528G>T NP_005036.2:p.Gln176His NC_000007.14:103776572:C:A p.(Gln176His) NC_000007.14:103776572:C:A p.(Gln176His) NC_000007.14:103776572:C:A Identity +NM_001203.3:c.622A>G NP_001194.1:p.Lys208Glu NC_000004.12:95129897:A:G p.(Lys208Glu) NC_000004.12:95129897:A:G p.(Lys208Glu) NC_000004.12:95129897:A:G Identity +NM_024312.5:c.2972dup NP_077288.2:p.Met991fs NC_000012.12:101761289:A:AA p.(Met991IlefsTer25) NC_000012.12:101761289:A:AA p.(Met991IlefsTer25) ERR:SPDI Analogous +NM_001426864.1:c.1943T>A NP_001413793.1:p.Phe648Tyr NC_000014.9:104708725:T:A p.(Phe648Tyr) NC_000014.9:104708725:T:A p.(Phe648Tyr) NC_000014.9:104708725:T:A Identity +NM_012186.3:c.653G>T NP_036318.1:p.Ser218Ile NC_000001.11:47416967:G:T p.(Ser218Ile) NC_000001.11:47416967:G:T p.(Ser218Ile) NC_000001.11:47416967:G:T Identity +NM_001256850.1:c.100154A>G NP_001243779.1:p.Tyr33385Cys NC_000002.12:178531537:T:C p.(Tyr33385Cys) NC_000002.12:178531537:T:C p.(Tyr33385Cys) NC_000002.12:178531537:T:C Identity +NM_001025107.3:c.1503C>G NP_001020278.1:p.Asn501Lys NC_000001.11:154590291:G:C p.(Asn501Lys) NC_000001.11:154590291:G:C p.(Asn501Lys) NC_000001.11:154590291:G:C Identity +NM_001321268.2:c.981G>A NP_001308197.1:p.Glu327= NC_000017.11:58206168:C:T p.(Glu327=) NC_000017.11:58206168:C:T p.(Glu327=) NC_000017.11:58206168:C:T Identity +NM_005045.4:c.1516C>T NP_005036.2:p.His506Tyr NC_000007.14:103654130:G:A p.(His506Tyr) NC_000007.14:103654130:G:A p.(His506Tyr) NC_000007.14:103654130:G:A Identity +NM_001330609.2:c.2416A>T NP_001317538.1:p.Met806Leu NC_000008.11:125039888:T:A p.(Met806Leu) NC_000008.11:125039888:T:A p.(Met806Leu) NC_000008.11:125039888:T:A Identity +NM_001365536.1:c.4864C>T NP_001352465.1:p.Arg1622Cys NC_000002.12:166199774:G:A p.(Arg1622Cys) NC_000002.12:166199774:G:A p.(Arg1622Cys) NC_000002.12:166199774:G:A Identity +NM_001025107.3:c.241G>T NP_001020278.1:p.Ala81Ser NC_000001.11:154601515:C:A p.(Ala81Ser) NC_000001.11:154601515:C:A p.(Ala81Ser) NC_000001.11:154601515:C:A Identity +NM_000384.3:c.12126G>T NP_000375.3:p.Glu4042Asp NC_000002.12:21003295:C:A p.(Glu4042Asp) NC_000002.12:21003295:C:A p.(Glu4042Asp) NC_000002.12:21003295:C:A Identity +NM_000384.3:c.8107C>G NP_000375.3:p.Leu2703Val NC_000002.12:21008760:G:C p.(Leu2703Val) NC_000002.12:21008760:G:C p.(Leu2703Val) NC_000002.12:21008760:G:C Identity +NM_001199138.2:c.2828A>G NP_001186067.1:p.Asn943Ser NC_000002.12:32224719:T:C p.(Asn943Ser) NC_000002.12:32224719:T:C p.(Asn943Ser) NC_000002.12:32224719:T:C Identity +NM_001007565.2:c.1054A>G NP_001007566.1:p.Ser352Gly NC_000003.12:100748381:A:G p.(Ser352Gly) NC_000003.12:100748381:A:G p.(Ser352Gly) NC_000003.12:100748381:A:G Identity +NM_032043.3:c.1469T>C NP_114432.2:p.Leu490Ser NC_000017.11:61793600:A:G p.(Leu490Ser) NC_000017.11:61793600:A:G p.(Leu490Ser) NC_000017.11:61793600:A:G Identity +NM_001127487.2:c.1206_1207dup NP_001120959.1:p.Ala403fs NC_000007.14:128838424:TG:TGTG p.(Ala403ValfsTer12) NC_000007.14:128838424:TG:TGTG p.(Ala403ValfsTer12) ERR:SPDI Analogous +NM_000604.2:c.1759C>T NP_000595.1:p.Pro587Ser NC_000008.11:38415964:G:A ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001293557.2:c.185T>C NP_001280486.1:p.Leu62Pro NC_000016.10:50699679:T:C p.(Leu62Pro) NC_000016.10:50699679:T:C p.(Leu62Pro) NC_000016.10:50699679:T:C Identity +NM_001424113.1:c.3766C>A NP_001411042.1:p.His1256Asn NC_000006.12:75152199:G:T p.(His1256Asn) NC_000006.12:75152199:G:T p.(His1256Asn) NC_000006.12:75152199:G:T Identity +NM_001135040.3:c.1844A>G NP_001128512.1:p.Asn615Ser NC_000002.12:74368081:T:C p.(Asn615Ser) NC_000002.12:74368081:T:C p.(Asn615Ser) NC_000002.12:74368081:T:C Identity +NM_004415.4:c.4145T>G NP_004406.2:p.Met1382Arg NC_000006.12:7580334:T:G p.(Met1382Arg) NC_000006.12:7580334:T:G p.(Met1382Arg) NC_000006.12:7580334:T:G Identity +NM_001424113.1:c.1553A>C NP_001411042.1:p.Asn518Thr NC_000006.12:75183387:T:G p.(Asn518Thr) NC_000006.12:75183387:T:G p.(Asn518Thr) NC_000006.12:75183387:T:G Identity +NM_001080522.2:c.77_83del NP_001073991.2:p.Arg26fs NC_000004.12:15478756:GAAGACAGAA:GAA p.(Arg26IlefsTer46) NC_000004.12:15478756:GAAGACAGAA:GAA p.(Arg26IlefsTer46) NC_000004.12:15478759:GACAGAA: Analogous +NM_001277961.3:c.1493G>C NP_001264890.1:p.Ser498Thr NC_000011.10:4086494:G:C p.(Ser498Thr) NC_000011.10:4086494:G:C p.(Ser498Thr) NC_000011.10:4086494:G:C Identity +NM_000806.5:c.1151C>G NP_000797.2:p.Pro384Arg NC_000005.10:161897201:C:G p.(Pro384Arg) NC_000005.10:161897201:C:G p.(Pro384Arg) NC_000005.10:161897201:C:G Identity +NM_001369512.1:c.1756A>G NP_001356441.1:p.Met586Val NC_000017.11:42323135:T:C p.(Met586Val) NC_000017.11:42323135:T:C p.(Met586Val) NC_000017.11:42323135:T:C Identity +NM_001365536.1:c.5774A>T NP_001352465.1:p.Asp1925Val NC_000002.12:166198864:T:A p.(Asp1925Val) NC_000002.12:166198864:T:A p.(Asp1925Val) NC_000002.12:166198864:T:A Identity +NM_001082537.3:c.151A>G NP_001076006.1:p.Thr51Ala NC_000012.12:110614332:A:G p.(Thr51Ala) NC_000012.12:110614332:A:G p.(Thr51Ala) NC_000012.12:110614332:A:G Identity +NM_001127487.2:c.2614G>T NP_001120959.1:p.Ala872Ser NC_000007.14:128843291:G:T p.(Ala872Ser) NC_000007.14:128843291:G:T p.(Ala872Ser) NC_000007.14:128843291:G:T Identity +NM_001145661.2:c.550G>C NP_001139133.1:p.Asp184His NC_000003.12:128486047:C:G p.(Asp184His) NC_000003.12:128486047:C:G p.(Asp184His) NC_000003.12:128486047:C:G Identity +NM_000378.6:c.1019C>A NP_000369.4:p.Ala340Asp NC_000011.10:32399990:G:T p.(Ala340Asp) NC_000011.10:32399990:G:T p.(Ala340Asp) NC_000011.10:32399990:G:T Identity +NM_001025107.3:c.1099G>A NP_001020278.1:p.Ala367Thr NC_000001.11:154597217:C:T p.(Ala367Thr) NC_000001.11:154597217:C:T p.(Ala367Thr) NC_000001.11:154597217:C:T Identity +NM_139058.3:c.1202C>T NP_620689.1:p.Pro401Leu NC_000023.11:25007356:G:A p.(Pro401Leu) NC_000023.11:25007356:G:A p.(Pro401Leu) NC_000023.11:25007356:G:A Identity +NM_001277961.3:c.2125G>T NP_001264890.1:p.Ala709Ser NC_000011.10:4091546:G:T p.(Ala709Ser) NC_000011.10:4091546:G:T p.(Ala709Ser) NC_000011.10:4091546:G:T Identity +NM_001206524.2:c.13G>A NP_001193453.1:p.Gly5Ser NC_000002.12:201185789:G:A p.(Gly5Ser) NC_000002.12:201185789:G:A p.(Gly5Ser) NC_000002.12:201185789:G:A Identity +NM_001144769.5:c.12916G>A NP_001138241.1:p.Glu4306Lys NC_000006.12:56506755:C:T p.(Glu4306Lys) NC_000006.12:56506755:C:T p.(Glu4306Lys) NC_000006.12:56506755:C:T Identity +NM_000138.5:c.1846G>C NP_000129.3:p.Glu616Gln NC_000015.10:48505138:C:G p.(Glu616Gln) NC_000015.10:48505138:C:G p.(Glu616Gln) NC_000015.10:48505138:C:G Identity +NM_000248.4:c.337T>C NP_000239.1:p.Cys113Arg NC_000003.12:69939172:T:C p.(Cys113Arg) NC_000003.12:69939172:T:C p.(Cys113Arg) NC_000003.12:69939172:T:C Identity +NM_000083.3:c.2937C>A NP_000074.3:p.Asp979Glu NC_000007.14:143351934:C:A p.(Asp979Glu) NC_000007.14:143351934:C:A p.(Asp979Glu) NC_000007.14:143351934:C:A Identity +NM_025216.3:c.99_105dup NP_079492.2:p.Met36fs NC_000002.12:218881092:CTGCTGCC:CTGCTGCCTGCTGCC p.(Met36CysfsTer10) NC_000002.12:218881092:CTGCTGCC:CTGCTGCCTGCTGCC p.(Met36CysfsTer10) ERR:SPDI Analogous +NM_000834.5:c.3597G>C NP_000825.2:p.Lys1199Asn NC_000012.12:13563640:C:G p.(Lys1199Asn) NC_000012.12:13563640:C:G p.(Lys1199Asn) NC_000012.12:13563640:C:G Identity +NM_001305005.3:c.1581T>A NP_001291934.1:p.Asp527Glu NC_000002.12:108010698:T:A p.(Asp527Glu) NC_000002.12:108010698:T:A p.(Asp527Glu) NC_000002.12:108010698:T:A Identity +NM_001025107.3:c.178T>A NP_001020278.1:p.Leu60Met NC_000001.11:154601578:A:T p.(Leu60Met) NC_000001.11:154601578:A:T p.(Leu60Met) NC_000001.11:154601578:A:T Identity +NM_182961.4:c.10862T>C NP_892006.3:p.Val3621Ala NC_000006.12:152354722:A:G p.(Val3621Ala) NC_000006.12:152354722:A:G p.(Val3621Ala) NC_000006.12:152354722:A:G Identity +NM_001324281.3:c.3118G>A NP_001311210.1:p.Ala1040Thr NC_000007.14:2912197:C:T p.(Ala1040Thr) NC_000007.14:2912197:C:T p.(Ala1040Thr) NC_000007.14:2912197:C:T Identity +NM_005045.4:c.5389G>T NP_005036.2:p.Val1797Phe NC_000007.14:103561671:C:A p.(Val1797Phe) NC_000007.14:103561671:C:A p.(Val1797Phe) NC_000007.14:103561671:C:A Identity +NM_000194.3:c.77A>G NP_000185.1:p.Asn26Ser NC_000023.11:134473407:A:G p.(Asn26Ser) NC_000023.11:134473407:A:G p.(Asn26Ser) NC_000023.11:134473407:A:G Identity +NM_001008844.3:c.6593del NP_001008844.1:p.Ile2198fs NC_000006.12:7585651:T: p.(Ile2198ThrfsTer86) NC_000006.12:7585651:T: p.(Ile2198ThrfsTer86) NC_000006.12:7585651:T: Analogous +NM_001330209.2:c.1277T>C NP_001317138.1:p.Leu426Pro NC_000023.11:13756752:T:C p.(Leu426Pro) NC_000023.11:13756752:T:C p.(Leu426Pro) NC_000023.11:13756752:T:C Identity +NM_001142298.2:c.985C>G NP_001135770.1:p.Leu329Val NC_000005.10:179836506:C:G p.(Leu329Val) NC_000005.10:179836506:C:G p.(Leu329Val) NC_000005.10:179836506:C:G Identity +NM_001349253.2:c.2942C>T NP_001336182.1:p.Pro981Leu NC_000003.12:38886131:G:A p.(Pro981Leu) NC_000003.12:38886131:G:A p.(Pro981Leu) NC_000003.12:38886131:G:A Identity +NM_001365536.1:c.3446A>T NP_001352465.1:p.Asp1149Val NC_000002.12:166251790:T:A p.(Asp1149Val) NC_000002.12:166251790:T:A p.(Asp1149Val) NC_000002.12:166251790:T:A Identity +NM_001293557.2:c.1227G>T NP_001280486.1:p.Lys409Asn NC_000016.10:50711218:G:T p.(Lys409Asn) NC_000016.10:50711218:G:T p.(Lys409Asn) NC_000016.10:50711218:G:T Identity +NM_001256850.1:c.39680_39710del NP_001243779.1:p.Ala13227fs NC_000002.12:178624646:CTGGAGACTTCACACTCCAGCACTGCAGTGGCT:CT p.(Ala13227GlufsTer6) NC_000002.12:178624646:CTGGAGACTTCACACTCCAGCACTGCAGTGGCT:CT p.(Ala13227GlufsTer6) NC_000002.12:178624646:CTGGAGACTTCACACTCCAGCACTGCAGTGG: Analogous +NM_001294332.2:c.844dup NP_001281261.1:p.Tyr282fs NC_000005.10:233568:T:TT p.(Tyr282LeufsTer11) NC_000005.10:233568:T:TT p.(Tyr282LeufsTer11) ERR:SPDI Analogous +NM_000138.5:c.3055del NP_000129.3:p.Ile1019fs NC_000015.10:48489877:TTT:TT p.(Ile1019LeufsTer16) NC_000015.10:48489877:TTT:TT p.(Ile1019LeufsTer16) NC_000015.10:48489877:T: Analogous +NM_001193640.2:c.5del NP_001180569.1:p.Ala2fs NC_000001.11:197268416:C: p.(Ala2AspfsTer21) NC_000001.11:197268416:C: p.(Ala2AspfsTer21) NC_000001.11:197268416:C: Analogous +NM_001244644.2:c.491G>T NP_001231573.1:p.Arg164Leu NC_000003.12:87253793:G:T p.(Arg164Leu) NC_000003.12:87253793:G:T p.(Arg164Leu) NC_000003.12:87253793:G:T Identity +NM_001114107.5:c.764G>T NP_001107579.1:p.Gly255Val NC_000004.12:185502480:C:A p.(Gly255Val) NC_000004.12:185502480:C:A p.(Gly255Val) NC_000004.12:185502480:C:A Identity +NM_001008844.3:c.441G>C NP_001008844.1:p.Glu147Asp NC_000006.12:7559243:G:C p.(Glu147Asp) NC_000006.12:7559243:G:C p.(Glu147Asp) NC_000006.12:7559243:G:C Identity +NM_000138.5:c.7693T>C NP_000129.3:p.Cys2565Arg NC_000015.10:48421563:A:G p.(Cys2565Arg) NC_000015.10:48421563:A:G p.(Cys2565Arg) NC_000015.10:48421563:A:G Identity +NM_001294332.2:c.97T>C NP_001281261.1:p.Phe33Leu NC_000005.10:223514:T:C p.(Phe33Leu) NC_000005.10:223514:T:C p.(Phe33Leu) NC_000005.10:223514:T:C Identity +NM_001110556.2:c.6539G>A NP_001104026.1:p.Ser2180Asn NC_000023.11:154352410:C:T p.(Ser2180Asn) NC_000023.11:154352410:C:T p.(Ser2180Asn) NC_000023.11:154352410:C:T Identity +NM_001283009.2:c.850G>T NP_001269938.1:p.Glu284Ter NC_000020.11:63674023:G:T p.(Glu284Ter) NC_000020.11:63674023:G:T p.(Glu284Ter) NC_000020.11:63674023:G:T Identity +NM_001008844.3:c.1964T>A NP_001008844.1:p.Ile655Asn NC_000006.12:7571901:T:A p.(Ile655Asn) NC_000006.12:7571901:T:A p.(Ile655Asn) NC_000006.12:7571901:T:A Identity +NM_001037343.2:c.2355_2357del NP_001032420.1:p.Lys789del NC_000023.11:18619942:AAGAA:AA p.(Lys789del) NC_000023.11:18619942:AAGAA:AA p.(Lys789del) NC_000023.11:18619944:GAA: Identity +NM_181523.3:c.374C>G NP_852664.1:p.Pro125Arg NC_000005.10:68273428:C:G p.(Pro125Arg) NC_000005.10:68273428:C:G p.(Pro125Arg) NC_000005.10:68273428:C:G Identity +NM_001017423.2:c.1778A>T NP_001017423.1:p.Asp593Val NC_000010.11:95613982:T:A p.(Asp593Val) NC_000010.11:95613982:T:A p.(Asp593Val) NC_000010.11:95613982:T:A Identity +NM_000378.6:c.70C>A NP_000369.4:p.Arg24Ser NC_000011.10:32435290:G:T p.(Arg24Ser) NC_000011.10:32435290:G:T p.(Arg24Ser) NC_000011.10:32435290:G:T Identity +NM_001111.5:c.17G>C NP_001102.3:p.Gly6Ala NC_000001.11:154602624:C:G p.(Gly6Ala) NC_000001.11:154602624:C:G p.(Gly6Ala) NC_000001.11:154602624:C:G Identity +NM_000068.4:c.5267G>C NP_000059.3:p.Arg1756Pro NC_000019.10:13234920:C:G p.(Arg1756Pro) NC_000019.10:13234920:C:G p.(Arg1756Pro) NC_000019.10:13234920:C:G Identity +NM_032043.3:c.721T>A NP_114432.2:p.Ser241Thr NC_000017.11:61808663:A:T p.(Ser241Thr) NC_000017.11:61808663:A:T p.(Ser241Thr) NC_000017.11:61808663:A:T Identity +NM_001127897.4:c.3039_3042del NP_001121369.1:p.Ser1014fs NC_000016.10:53637770:AGATAG:AG p.(Ser1014LysfsTer18) NC_000016.10:53637770:AGATAG:AG p.(Ser1014LysfsTer18) NC_000016.10:53637770:AGAT: Analogous +NM_000445.5:c.8463G>C NP_000436.2:p.Lys2821Asn NC_000008.11:143921438:C:G p.(Lys2821Asn) NC_000008.11:143921438:C:G p.(Lys2821Asn) NC_000008.11:143921438:C:G Identity +NM_001282902.3:c.2670A>T NP_001269831.1:p.Leu890Phe NC_000008.11:115587003:T:A p.(Leu890Phe) NC_000008.11:115587003:T:A p.(Leu890Phe) NC_000008.11:115587003:T:A Identity +NM_000138.5:c.5160C>G NP_000129.3:p.Cys1720Trp NC_000015.10:48463145:G:C p.(Cys1720Trp) NC_000015.10:48463145:G:C p.(Cys1720Trp) NC_000015.10:48463145:G:C Identity +NM_001184985.2:c.3121A>C NP_001171914.1:p.Asn1041His NC_000012.12:868846:A:C p.(Asn1041His) NC_000012.12:868846:A:C p.(Asn1041His) NC_000012.12:868846:A:C Identity +NM_000445.5:c.5837A>C NP_000436.2:p.Gln1946Pro NC_000008.11:143924172:T:G p.(Gln1946Pro) NC_000008.11:143924172:T:G p.(Gln1946Pro) NC_000008.11:143924172:T:G Identity +NM_001294332.2:c.11T>A NP_001281261.1:p.Val4Asp NC_000005.10:218365:T:A p.(Val4Asp) NC_000005.10:218365:T:A p.(Val4Asp) NC_000005.10:218365:T:A Identity +NM_024312.5:c.2684dup NP_077288.2:p.Lys896fs NC_000012.12:101764232:T:TT p.(Lys896GlufsTer24) NC_000012.12:101764232:T:TT p.(Lys896GlufsTer24) ERR:SPDI Analogous +NM_032043.3:c.1009A>T NP_114432.2:p.Ile337Leu NC_000017.11:61801383:T:A p.(Ile337Leu) NC_000017.11:61801383:T:A p.(Ile337Leu) NC_000017.11:61801383:T:A Identity +NM_000138.5:c.6780_6783del NP_000129.3:p.Glu2260fs NC_000015.10:48430758:TTTTT:T p.(Glu2260AspfsTer30) NC_000015.10:48430758:TTTTT:T p.(Glu2260AspfsTer30) NC_000015.10:48430758:TTTT: Analogous +NM_001363907.1:c.1172C>G NP_001350836.1:p.Ala391Gly NC_000016.10:85921142:C:G p.(Ala391Gly) NC_000016.10:85921142:C:G p.(Ala391Gly) NC_000016.10:85921142:C:G Identity +NM_001199138.2:c.2672A>C NP_001186067.1:p.Asp891Ala NC_000002.12:32235510:T:G p.(Asp891Ala) NC_000002.12:32235510:T:G p.(Asp891Ala) NC_000002.12:32235510:T:G Identity +NM_001111.5:c.530A>G NP_001102.3:p.Tyr177Cys NC_000001.11:154602111:T:C p.(Tyr177Cys) NC_000001.11:154602111:T:C p.(Tyr177Cys) NC_000001.11:154602111:T:C Identity +NM_000554.6:c.534_538del NP_000545.1:p.Leu179fs NC_000019.10:47839593:GGGCTGGGCTGG:GGGCTGG p.(Leu179GlyfsTer55) NC_000019.10:47839593:GGGCTGGGCTGG:GGGCTGG p.(Leu179GlyfsTer55) NC_000019.10:47839600:GCTGG: Analogous +NM_001040142.2:c.1086T>A NP_001035232.1:p.Tyr362Ter NC_000002.12:165313670:T:A p.(Tyr362Ter) NC_000002.12:165313670:T:A p.(Tyr362Ter) NC_000002.12:165313670:T:A Identity +NM_001352773.2:c.266T>A NP_001339702.1:p.Met89Lys NC_000017.11:41769619:A:T p.(Met89Lys) NC_000017.11:41769619:A:T p.(Met89Lys) NC_000017.11:41769619:A:T Identity +NM_001035511.3:c.115G>C NP_001030588.1:p.Glu39Gln NC_000001.11:161328432:G:C p.(Glu39Gln) NC_000001.11:161328432:G:C p.(Glu39Gln) NC_000001.11:161328432:G:C Identity +NM_001110556.2:c.1062_1063del NP_001104026.1:p.His354fs NC_000023.11:154366563:TAT:T p.(His354GlnfsTer22) NC_000023.11:154366563:TAT:T p.(His354GlnfsTer22) NC_000023.11:154366563:TA: Analogous +NM_001349253.2:c.5366A>G NP_001336182.1:p.His1789Arg NC_000003.12:38846703:T:C p.(His1789Arg) NC_000003.12:38846703:T:C p.(His1789Arg) NC_000003.12:38846703:T:C Identity +NM_000431.4:c.46_49del NP_000422.1:p.Leu16fs NC_000012.12:109574865:TCCTTC:TC p.(Leu16MetfsTer11) NC_000012.12:109574865:TCCTTC:TC p.(Leu16MetfsTer11) NC_000012.12:109574867:CTTC: Analogous +NM_001080522.2:c.173del NP_001073991.2:p.Gly58fs NC_000004.12:15480751:GG:G p.(Gly58AlafsTer16) NC_000004.12:15480751:GG:G p.(Gly58AlafsTer16) NC_000004.12:15480752:G: Analogous +NM_000388.4:c.97_98del NP_000379.3:p.Ile33fs NC_000003.12:122254284:TAT:T p.(Ile33ProfsTer14) NC_000003.12:122254284:TAT:T p.(Ile33ProfsTer14) NC_000003.12:122254285:AT: Analogous +NM_000138.5:c.2223C>A NP_000129.3:p.Asn741Lys NC_000015.10:48497335:G:T p.(Asn741Lys) NC_000015.10:48497335:G:T p.(Asn741Lys) NC_000015.10:48497335:G:T Identity +NM_001145662.1:c.911C>A NP_001139134.1:p.Pro304His NC_000003.12:128483965:G:T p.(Pro304His) NC_000003.12:128483965:G:T p.(Pro304His) NC_000003.12:128483965:G:T Identity +NM_001008844.3:c.415del NP_001008844.1:p.Gln139fs NC_000006.12:7558255:CC:C p.(Gln139ArgfsTer57) NC_000006.12:7558255:CC:C p.(Gln139ArgfsTer57) NC_000006.12:7558256:C: Analogous +NM_001330758.2:c.410A>T NP_001317687.1:p.Asp137Val NC_000005.10:225515:A:T p.(Asp137Val) NC_000005.10:225515:A:T p.(Asp137Val) NC_000005.10:225515:A:T Identity +NM_000182.5:c.2063_2087dup NP_000173.2:p.Glu699fs NC_000002.12:26191541:GTGGCCAAGATCCCCTCTTGCAGGC:GTGGCCAAGATCCCCTCTTGCAGGCGTGGCCAAGATCCCCTCTTGCAGGC p.(Glu699ArgfsTer47) NC_000002.12:26191541:GTGGCCAAGATCCCCTCTTGCAGGC:GTGGCCAAGATCCCCTCTTGCAGGCGTGGCCAAGATCCCCTCTTGCAGGC p.(Glu699ArgfsTer47) ERR:SPDI Analogous +NM_002292.4:c.3218del NP_002283.3:p.Gly1073fs NC_000003.12:49124503:CCC:CC p.(Gly1073AlafsTer78) NC_000003.12:49124503:CCC:CC p.(Gly1073AlafsTer78) NC_000003.12:49124503:C: Analogous +NM_001256850.1:c.85779del NP_001243779.1:p.Phe28593fs NC_000002.12:178552197:AAA:AA p.(Phe28593LeufsTer56) NC_000002.12:178552197:AAA:AA p.(Phe28593LeufsTer56) NC_000002.12:178552197:A: Analogous +NM_001145661.2:c.701C>G NP_001139133.1:p.Ala234Gly NC_000003.12:128485896:G:C p.(Ala234Gly) NC_000003.12:128485896:G:C p.(Ala234Gly) NC_000003.12:128485896:G:C Identity +NM_005373.3:c.388_389del NP_005364.1:p.Val130fs NC_000001.11:43338714:GTGT:GT p.(Val130ArgfsTer33) NC_000001.11:43338714:GTGT:GT p.(Val130ArgfsTer33) NC_000001.11:43338716:GT: Analogous +NM_022168.4:c.11G>C NP_071451.2:p.Gly4Ala NC_000002.12:162318296:C:G p.(Gly4Ala) NC_000002.12:162318296:C:G p.(Gly4Ala) NC_000002.12:162318296:C:G Identity +NM_001080522.2:c.16G>T NP_001073991.2:p.Glu6Ter NC_000004.12:15475947:G:T p.(Glu6Ter) NC_000004.12:15475947:G:T p.(Glu6Ter) NC_000004.12:15475947:G:T Identity +NM_033071.5:c.19795G>A NP_149062.2:p.Ala6599Thr NC_000006.12:152239591:C:T p.(Ala6599Thr) NC_000006.12:152239591:C:T p.(Ala6599Thr) NC_000006.12:152239591:C:T Identity +NM_000089.4:c.2729G>A NP_000080.2:p.Gly910Asp NC_000007.14:94425171:G:A p.(Gly910Asp) NC_000007.14:94425171:G:A p.(Gly910Asp) NC_000007.14:94425171:G:A Identity +NM_001382708.1:c.119dup NP_001369637.1:p.Gly41fs NC_000002.12:219418578:TTT:TTTT p.(Gly41ArgfsTer3) NC_000002.12:219418578:TTT:TTTT p.(Gly41ArgfsTer3) ERR:SPDI Analogous +NM_001145661.2:c.449G>A NP_001139133.1:p.Gly150Glu NC_000003.12:128486148:C:T p.(Gly150Glu) NC_000003.12:128486148:C:T p.(Gly150Glu) NC_000003.12:128486148:C:T Identity +NM_000448.3:c.1723G>T NP_000439.2:p.Glu575Ter NC_000011.10:36575026:G:T p.(Glu575Ter) NC_000011.10:36575026:G:T p.(Glu575Ter) NC_000011.10:36575026:G:T Identity +NM_005045.4:c.9474dup NP_005036.2:p.Cys3159fs NC_000007.14:103490798:C:CC p.(Cys3159ValfsTer7) NC_000007.14:103490798:C:CC p.(Cys3159ValfsTer7) ERR:SPDI Analogous +NM_001424113.1:c.163T>C NP_001411042.1:p.Tyr55His NC_000006.12:75194857:A:G p.(Tyr55His) NC_000006.12:75194857:A:G p.(Tyr55His) NC_000006.12:75194857:A:G Identity +NM_001407361.1:c.472G>A NP_001394290.1:p.Glu158Lys NC_000001.11:17027762:C:T p.(Glu158Lys) NC_000001.11:17027762:C:T p.(Glu158Lys) NC_000001.11:17027762:C:T Identity +NM_001256850.1:c.41094dup NP_001243779.1:p.Glu13699fs NC_000002.12:178620503:TT:TTT p.(Glu13699ArgfsTer5) NC_000002.12:178620503:TT:TTT p.(Glu13699ArgfsTer5) ERR:SPDI Analogous +NM_001025107.3:c.2545G>A NP_001020278.1:p.Gly849Ser NC_000001.11:154585229:C:T p.(Gly849Ser) NC_000001.11:154585229:C:T p.(Gly849Ser) NC_000001.11:154585229:C:T Identity +NM_013382.7:c.1412_1413dup NP_037514.2:p.Ser472fs NC_000014.9:77285551:TCTC:TCTCTC p.(Ser472GlufsTer38) NC_000014.9:77285551:TCTC:TCTCTC p.(Ser472GlufsTer38) ERR:SPDI Analogous +NM_000248.4:c.335C>G NP_000239.1:p.Ser112Cys NC_000003.12:69939170:C:G p.(Ser112Cys) NC_000003.12:69939170:C:G p.(Ser112Cys) NC_000003.12:69939170:C:G Identity +NM_000112.4:c.725G>T NP_000103.2:p.Gly242Val NC_000005.10:149980317:G:T p.(Gly242Val) NC_000005.10:149980317:G:T p.(Gly242Val) NC_000005.10:149980317:G:T Identity +NM_001025107.3:c.324G>A NP_001020278.1:p.Met108Ile NC_000001.11:154601432:C:T p.(Met108Ile) NC_000001.11:154601432:C:T p.(Met108Ile) NC_000001.11:154601432:C:T Identity +NM_001103.4:c.1757T>C NP_001094.1:p.Ile586Thr NC_000001.11:236751569:T:C p.(Ile586Thr) NC_000001.11:236751569:T:C p.(Ile586Thr) NC_000001.11:236751569:T:C Identity +NM_001145661.2:c.663G>T NP_001139133.1:p.Met221Ile NC_000003.12:128485934:C:A p.(Met221Ile) NC_000003.12:128485934:C:A p.(Met221Ile) NC_000003.12:128485934:C:A Identity +NM_001324281.3:c.489G>C NP_001311210.1:p.Lys163Asn NC_000007.14:2944406:C:G p.(Lys163Asn) NC_000007.14:2944406:C:G p.(Lys163Asn) NC_000007.14:2944406:C:G Identity +NM_001178133.2:c.812C>A NP_001171604.1:p.Ala271Asp NC_000010.11:102597194:C:A p.(Ala271Asp) NC_000010.11:102597194:C:A p.(Ala271Asp) NC_000010.11:102597194:C:A Identity +NM_001128227.3:c.923G>A NP_001121699.1:p.Arg308His NC_000009.12:36234071:C:T p.(Arg308His) NC_000009.12:36234071:C:T p.(Arg308His) NC_000009.12:36234071:C:T Identity +NM_001144769.5:c.10179del NP_001138241.1:p.Glu3394fs NC_000006.12:56552255:TT:T p.(Glu3394AsnfsTer41) NC_000006.12:56552255:TT:T p.(Glu3394AsnfsTer41) NC_000006.12:56552255:T: Analogous +NM_001382708.1:c.1115A>C NP_001369637.1:p.Glu372Ala NC_000002.12:219421433:A:C p.(Glu372Ala) NC_000002.12:219421433:A:C p.(Glu372Ala) NC_000002.12:219421433:A:C Identity +NM_000052.7:c.702T>G NP_000043.4:p.Phe234Leu NC_000023.11:77989323:T:G p.(Phe234Leu) NC_000023.11:77989323:T:G p.(Phe234Leu) NC_000023.11:77989323:T:G Identity +NM_181523.3:c.248C>T NP_852664.1:p.Ser83Leu NC_000005.10:68226922:C:T p.(Ser83Leu) NC_000005.10:68226922:C:T p.(Ser83Leu) NC_000005.10:68226922:C:T Identity +NM_001184985.2:c.2609A>C NP_001171914.1:p.Tyr870Ser NC_000012.12:868334:A:C p.(Tyr870Ser) NC_000012.12:868334:A:C p.(Tyr870Ser) NC_000012.12:868334:A:C Identity +NM_001407361.1:c.283G>C NP_001394290.1:p.Glu95Gln NC_000001.11:17033062:C:G p.(Glu95Gln) NC_000001.11:17033062:C:G p.(Glu95Gln) NC_000001.11:17033062:C:G Identity +NM_001110556.2:c.510G>C NP_001104026.1:p.Gln170His NC_000023.11:154367953:C:G p.(Gln170His) NC_000023.11:154367953:C:G p.(Gln170His) NC_000023.11:154367953:C:G Identity +NM_000146.4:c.391G>A NP_000137.2:p.Glu131Lys NC_000019.10:48966597:G:A p.(Glu131Lys) NC_000019.10:48966597:G:A p.(Glu131Lys) NC_000019.10:48966597:G:A Identity +NM_001348064.1:c.1673T>G NP_001334993.1:p.Ile558Ser NC_000023.11:67685996:T:G p.(Ile558Ser) NC_000023.11:67685996:T:G p.(Ile558Ser) NC_000023.11:67685996:T:G Identity +NM_001256850.1:c.35768_35790dup NP_001243779.1:p.Pro11931fs NC_000002.12:178640550:TTCAGGAATCTTCCTTTCCCTTTTT:TTCAGGAATCTTCCTTTCCCTTTTTCAGGAATCTTCCTTTCCCTTTTT p.(Pro11931LysfsTer34) NC_000002.12:178640550:TTCAGGAATCTTCCTTTCCCTTTTT:TTCAGGAATCTTCCTTTCCCTTTTTCAGGAATCTTCCTTTCCCTTTTT p.(Pro11931LysfsTer34) ERR:SPDI Analogous +NM_000089.4:c.3268G>A NP_000080.2:p.Gly1090Ser NC_000007.14:94427626:G:A p.(Gly1090Ser) NC_000007.14:94427626:G:A p.(Gly1090Ser) NC_000007.14:94427626:G:A Identity +NM_001365536.1:c.5939G>A NP_001352465.1:p.Gly1980Glu NC_000002.12:166198699:C:T p.(Gly1980Glu) NC_000002.12:166198699:C:T p.(Gly1980Glu) NC_000002.12:166198699:C:T Identity +NM_001079812.3:c.2064T>A NP_001073280.1:p.Ser688Arg NC_000005.10:141573758:A:T p.(Ser688Arg) NC_000005.10:141573758:A:T p.(Ser688Arg) NC_000005.10:141573758:A:T Identity +NM_000158.4:c.1605T>A NP_000149.4:p.Tyr535Ter NC_000003.12:81577937:A:T p.(Tyr535Ter) NC_000003.12:81577937:A:T p.(Tyr535Ter) NC_000003.12:81577937:A:T Identity +NM_000263.4:c.595del NP_000254.2:p.Leu199fs NC_000017.11:42538400:CC:C p.(Leu199TrpfsTer40) NC_000017.11:42538400:CC:C p.(Leu199TrpfsTer40) NC_000017.11:42538401:C: Analogous +NM_025216.3:c.152del NP_079492.2:p.Pro51fs NC_000002.12:218882193:CCCCCC:CCCCC p.(Pro51ArgfsTer12) NC_000002.12:218882193:CCCCCC:CCCCC p.(Pro51ArgfsTer12) NC_000002.12:218882198:C: Analogous +NM_012186.3:c.706G>T NP_036318.1:p.Glu236Ter NC_000001.11:47417020:G:T p.(Glu236Ter) NC_000001.11:47417020:G:T p.(Glu236Ter) NC_000001.11:47417020:G:T Identity +NM_000816.3:c.935T>A NP_000807.2:p.Val312Asp NC_000005.10:162149119:T:A p.(Val312Asp) NC_000005.10:162149119:T:A p.(Val312Asp) NC_000005.10:162149119:T:A Identity +NM_000138.5:c.3218A>G NP_000129.3:p.Glu1073Gly NC_000015.10:48488231:T:C p.(Glu1073Gly) NC_000015.10:48488231:T:C p.(Glu1073Gly) NC_000015.10:48488231:T:C Identity +NM_001256850.1:c.102123G>C NP_001243779.1:p.Lys34041Asn NC_000002.12:178528704:C:G p.(Lys34041Asn) NC_000002.12:178528704:C:G p.(Lys34041Asn) NC_000002.12:178528704:C:G Identity +NM_000112.4:c.1968del NP_000103.2:p.Gln657fs NC_000005.10:149981559:TT:T p.(Gln657AsnfsTer3) NC_000005.10:149981559:TT:T p.(Gln657AsnfsTer3) NC_000005.10:149981560:T: Analogous +NM_025114.4:c.3738del NP_079390.3:p.Glu1246fs NC_000012.12:88089322:TT:T p.(Glu1246AspfsTer45) NC_000012.12:88089322:TT:T p.(Glu1246AspfsTer45) NC_000012.12:88089322:T: Analogous +NM_020366.4:c.925C>G NP_065099.3:p.Gln309Glu NC_000014.9:21310601:C:G p.(Gln309Glu) NC_000014.9:21310601:C:G p.(Gln309Glu) NC_000014.9:21310601:C:G Identity +NM_022168.4:c.238G>A NP_071451.2:p.Val80Met NC_000002.12:162318069:C:T p.(Val80Met) NC_000002.12:162318069:C:T p.(Val80Met) NC_000002.12:162318069:C:T Identity +NM_001354723.2:c.371T>A NP_001341652.1:p.Val124Glu NC_000003.12:10142792:T:A p.(Val124Glu) NC_000003.12:10142792:T:A p.(Val124Glu) NC_000003.12:10142792:T:A Identity +NM_022168.4:c.1846A>C NP_071451.2:p.Thr616Pro NC_000002.12:162277612:T:G p.(Thr616Pro) NC_000002.12:162277612:T:G p.(Thr616Pro) NC_000002.12:162277612:T:G Identity +NM_025114.4:c.5027A>T NP_079390.3:p.His1676Leu NC_000012.12:88080380:T:A p.(His1676Leu) NC_000012.12:88080380:T:A p.(His1676Leu) NC_000012.12:88080380:T:A Identity +NM_032043.3:c.176C>G NP_114432.2:p.Ser59Cys NC_000017.11:61859824:G:C p.(Ser59Cys) NC_000017.11:61859824:G:C p.(Ser59Cys) NC_000017.11:61859824:G:C Identity +NM_000069.3:c.2762T>C NP_000060.2:p.Met921Thr NC_000001.11:201065928:A:G p.(Met921Thr) NC_000001.11:201065928:A:G p.(Met921Thr) NC_000001.11:201065928:A:G Identity +NM_001363907.1:c.698G>T NP_001350836.1:p.Cys233Phe NC_000016.10:85918482:G:T p.(Cys233Phe) NC_000016.10:85918482:G:T p.(Cys233Phe) NC_000016.10:85918482:G:T Identity +NM_002049.4:c.125_146del NP_002040.1:p.Asp42fs NC_000023.11:48791233:ATGCAGCAGCTTCCTCCACTGC: p.(Asp42AlafsTer88) NC_000023.11:48791233:ATGCAGCAGCTTCCTCCACTGC: p.(Asp42AlafsTer88) NC_000023.11:48791233:ATGCAGCAGCTTCCTCCACTGC: Analogous +NM_001079812.3:c.2228C>A NP_001073280.1:p.Pro743Gln NC_000005.10:141573594:G:T p.(Pro743Gln) NC_000005.10:141573594:G:T p.(Pro743Gln) NC_000005.10:141573594:G:T Identity +NM_000280.6:c.47del NP_000271.1:p.Val16fs NC_000011.10:31802797:A: p.(Val16AlafsTer15) NC_000011.10:31802797:A: p.(Val16AlafsTer15) NC_000011.10:31802797:A: Analogous +NM_001256850.1:c.77920del NP_001243779.1:p.Asp25974fs NC_000002.12:178563288:CC:C p.(Asp25974MetfsTer19) NC_000002.12:178563288:CC:C p.(Asp25974MetfsTer19) NC_000002.12:178563288:C: Analogous +NM_001005407.2:c.4314C>A NP_001005407.1:p.Cys1438Ter NC_000016.10:1211257:C:A p.(Cys1438Ter) NC_000016.10:1211257:C:A p.(Cys1438Ter) NC_000016.10:1211257:C:A Identity +NM_001244008.2:c.4296C>A NP_001230937.1:p.His1432Gln NC_000002.12:240723996:G:T p.(His1432Gln) NC_000002.12:240723996:G:T p.(His1432Gln) NC_000002.12:240723996:G:T Identity +NM_024312.5:c.3569del NP_077288.2:p.Asn1190fs NC_000012.12:101753404:TTT:TT p.(Asn1190ThrfsTer19) NC_000012.12:101753404:TTT:TT p.(Asn1190ThrfsTer19) NC_000012.12:101753404:T: Analogous +NM_014846.4:c.420T>G NP_055661.3:p.Cys140Trp NC_000008.11:125081758:A:C p.(Cys140Trp) NC_000008.11:125081758:A:C p.(Cys140Trp) NC_000008.11:125081758:A:C Identity +NM_001031714.4:c.1604AGG[1] NP_001026884.3:p.Glu536del NC_000014.9:104707868:GGAGGAGG:GGAGG p.(Glu536del) NC_000014.9:104707870:A:AGG ERR:Parse ERR:Parse Identity +NM_001037343.2:c.503dup NP_001032420.1:p.Tyr168Ter NC_000023.11:18584301:A:AA p.(Tyr168Ter) NC_000023.11:18584301:A:AA p.(Tyr168Ter) ERR:SPDI Identity +NM_001164673.2:c.657dup NP_001158145.1:p.Thr220fs NC_000004.12:3489689:GGG:GGGG p.(Thr220AspfsTer23) NC_000004.12:3489689:GGG:GGGG p.(Thr220AspfsTer23) ERR:SPDI Analogous +NM_001244008.2:c.1327A>G NP_001230937.1:p.Ile443Val NC_000002.12:240770984:T:C p.(Ile443Val) NC_000002.12:240770984:T:C p.(Ile443Val) NC_000002.12:240770984:T:C Identity +NM_000445.5:c.9124A>G NP_000436.2:p.Thr3042Ala NC_000008.11:143920777:T:C p.(Thr3042Ala) NC_000008.11:143920777:T:C p.(Thr3042Ala) NC_000008.11:143920777:T:C Identity +NM_001244008.2:c.3038C>T NP_001230937.1:p.Ser1013Phe NC_000002.12:240747260:G:A p.(Ser1013Phe) NC_000002.12:240747260:G:A p.(Ser1013Phe) NC_000002.12:240747260:G:A Identity +NM_025114.4:c.4076_4077del NP_079390.3:p.Leu1359fs NC_000012.12:88087896:AA: p.(Leu1359GlnfsTer10) NC_000012.12:88087896:AA: p.(Leu1359GlnfsTer10) NC_000012.12:88087896:AA: Analogous +NM_000138.5:c.6879T>G NP_000129.3:p.Asn2293Lys NC_000015.10:48428463:A:C p.(Asn2293Lys) NC_000015.10:48428463:A:C p.(Asn2293Lys) NC_000015.10:48428463:A:C Identity +NM_001001557.4:c.286G>C NP_001001557.1:p.Glu96Gln NC_000008.11:96160406:C:G p.(Glu96Gln) NC_000008.11:96160406:C:G p.(Glu96Gln) NC_000008.11:96160406:C:G Identity +NM_033071.5:c.9199A>G NP_149062.2:p.Asn3067Asp NC_000006.12:152376526:T:C p.(Asn3067Asp) NC_000006.12:152376526:T:C p.(Asn3067Asp) NC_000006.12:152376526:T:C Identity +NM_001365536.1:c.3215A>G NP_001352465.1:p.Glu1072Gly NC_000002.12:166272534:T:C p.(Glu1072Gly) NC_000002.12:166272534:T:C p.(Glu1072Gly) NC_000002.12:166272534:T:C Identity +NM_001080522.2:c.25A>T NP_001073991.2:p.Lys9Ter NC_000004.12:15475956:A:T p.(Lys9Ter) NC_000004.12:15475956:A:T p.(Lys9Ter) NC_000004.12:15475956:A:T Identity +NM_000388.4:c.971C>G NP_000379.3:p.Ala324Gly NC_000003.12:122262005:C:G p.(Ala324Gly) NC_000003.12:122262005:C:G p.(Ala324Gly) NC_000003.12:122262005:C:G Identity +NM_001256850.1:c.64690C>T NP_001243779.1:p.Gln21564Ter NC_000002.12:178576630:G:A p.(Gln21564Ter) NC_000002.12:178576630:G:A p.(Gln21564Ter) NC_000002.12:178576630:G:A Identity +NM_000551.4:c.162G>A NP_000542.1:p.Met54Ile NC_000003.12:10142008:G:A p.(Met54Ile) NC_000003.12:10142008:G:A p.(Met54Ile) NC_000003.12:10142008:G:A Identity +NM_001007565.2:c.80A>G NP_001007566.1:p.His27Arg NC_000003.12:100713764:A:G p.(His27Arg) NC_000003.12:100713764:A:G p.(His27Arg) NC_000003.12:100713764:A:G Identity +NM_000834.5:c.2069G>T NP_000825.2:p.Ser690Ile NC_000012.12:13571905:C:A p.(Ser690Ile) NC_000012.12:13571905:C:A p.(Ser690Ile) NC_000012.12:13571905:C:A Identity +NM_001025107.3:c.855dup NP_001020278.1:p.Ser286fs NC_000001.11:154598446:TTTT:TTTTT p.(Ser286IlefsTer41) NC_000001.11:154598446:TTTT:TTTTT p.(Ser286IlefsTer41) ERR:SPDI Analogous +NM_000604.2:c.2251G>C NP_000595.1:p.Val751Leu NC_000008.11:38413958:C:G ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:Data provider error: ValueError: Transcript NM_000604.2 not found ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000604.2, alt_ac=NM_000604.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000604.2 not found +NM_001267550.2:c.11191del NP_001254479.2:p.Ser3731fs NC_000002.12:178756284:T: p.(Ser3731AlafsTer17) NC_000002.12:178756284:T: p.(Ser3731AlafsTer17) NC_000002.12:178756284:T: Analogous +NM_002180.3:c.638A>C NP_002171.2:p.His213Pro NC_000011.10:68911529:A:C p.(His213Pro) NC_000011.10:68911529:A:C p.(His213Pro) NC_000011.10:68911529:A:C Identity +NM_001352773.2:c.1096C>T NP_001339702.1:p.Pro366Ser NC_000017.11:41764774:G:A p.(Pro366Ser) NC_000017.11:41764774:G:A p.(Pro366Ser) NC_000017.11:41764774:G:A Identity +NM_001127656.1:c.402G>A NP_001121128.1:p.Met134Ile NC_000011.10:19186227:C:T ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found +NM_004959.5:c.241G>A NP_004950.2:p.Glu81Lys NC_000009.12:124503081:C:T p.(Glu81Lys) NC_000009.12:124503081:C:T p.(Glu81Lys) NC_000009.12:124503081:C:T Identity +NM_001110556.2:c.917_918del NP_001104026.1:p.Val306fs NC_000023.11:154366800:CACA:CA p.(Val306GlyfsTer30) NC_000023.11:154366800:CACA:CA p.(Val306GlyfsTer30) NC_000023.11:154366800:CA: Analogous +NM_000068.4:c.2813A>G NP_000059.3:p.His938Arg NC_000019.10:13298831:T:C p.(His938Arg) NC_000019.10:13298831:T:C p.(His938Arg) NC_000019.10:13298831:T:C Identity +NM_001324281.3:c.2582C>G NP_001311210.1:p.Thr861Ser NC_000007.14:2918515:G:C p.(Thr861Ser) NC_000007.14:2918515:G:C p.(Thr861Ser) NC_000007.14:2918515:G:C Identity +NM_001193640.2:c.2251G>T NP_001180569.1:p.Glu751Ter NC_000001.11:197427911:G:T p.(Glu751Ter) NC_000001.11:197427911:G:T p.(Glu751Ter) NC_000001.11:197427911:G:T Identity +NM_005045.4:c.7054G>A NP_005036.2:p.Asp2352Asn NC_000007.14:103539203:C:T p.(Asp2352Asn) NC_000007.14:103539203:C:T p.(Asp2352Asn) NC_000007.14:103539203:C:T Identity +NM_001025107.3:c.328A>G NP_001020278.1:p.Thr110Ala NC_000001.11:154601428:T:C p.(Thr110Ala) NC_000001.11:154601428:T:C p.(Thr110Ala) NC_000001.11:154601428:T:C Identity +NM_001424113.1:c.5600C>T NP_001411042.1:p.Ala1867Val NC_000006.12:75133921:G:A p.(Ala1867Val) NC_000006.12:75133921:G:A p.(Ala1867Val) NC_000006.12:75133921:G:A Identity +NM_001371271.1:c.109G>A NP_001358200.1:p.Val37Met NC_000002.12:120797428:G:A p.(Val37Met) NC_000002.12:120797428:G:A p.(Val37Met) NC_000002.12:120797428:G:A Identity +LRG_2t1:c.3227C>A LRG_2p1:p.Pro1076His NC_000007.14:94427254:C:A ERR:Data provider error: ValueError: Transcript LRG_2t1 not found ERR:Data provider error: ValueError: Transcript LRG_2t1 not found ERR:AlignmentMapper(tx_ac=LRG_2t1, alt_ac=LRG_2t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_2t1, alt_ac=LRG_2t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_2t1 not found +NM_001256850.1:c.74093C>A NP_001243779.1:p.Ser24698Ter NC_000002.12:178567115:G:T p.(Ser24698Ter) NC_000002.12:178567115:G:T p.(Ser24698Ter) NC_000002.12:178567115:G:T Identity +NM_001077365.2:c.1847_1865dup NP_001070833.1:p.Gly624fs NC_000009.12:131522063:GTGCTGGCTGGGGCGCTGTGTGC:GTGCTGGCTGGGGCGCTGTGTGCTGGCTGGGGCGCTGTGTGC p.(Gly624TrpfsTer91) NC_000009.12:131522063:GTGCTGGCTGGGGCGCTGTGTGC:GTGCTGGCTGGGGCGCTGTGTGCTGGCTGGGGCGCTGTGTGC p.(Gly624TrpfsTer91) ERR:SPDI Analogous +NM_032043.3:c.2504A>G NP_114432.2:p.His835Arg NC_000017.11:61693500:T:C p.(His835Arg) NC_000017.11:61693500:T:C p.(His835Arg) NC_000017.11:61693500:T:C Identity +NM_001256850.1:c.63274G>T NP_001243779.1:p.Glu21092Ter NC_000002.12:178578832:C:A p.(Glu21092Ter) NC_000002.12:178578832:C:A p.(Glu21092Ter) NC_000002.12:178578832:C:A Identity +NM_001127487.2:c.2907C>G NP_001120959.1:p.Ile969Met NC_000007.14:128843890:C:G p.(Ile969Met) NC_000007.14:128843890:C:G p.(Ile969Met) NC_000007.14:128843890:C:G Identity +NM_001256850.1:c.62977_62978del NP_001243779.1:p.Gly20993fs NC_000002.12:178579128:CC: p.(Gly20993AsnfsTer20) NC_000002.12:178579128:CC: p.(Gly20993AsnfsTer20) NC_000002.12:178579128:CC: Analogous +NM_001256850.1:c.87596T>G NP_001243779.1:p.Leu29199Ter NC_000002.12:178549106:A:C p.(Leu29199Ter) NC_000002.12:178549106:A:C p.(Leu29199Ter) NC_000002.12:178549106:A:C Identity +NM_001814.6:c.857del NP_001805.4:p.Gln286fs NC_000011.10:88296164:T: p.(Gln286ArgfsTer48) NC_000011.10:88296164:T: p.(Gln286ArgfsTer48) NC_000011.10:88296164:T: Analogous +NM_001277971.2:c.645T>G NP_001264900.1:p.Tyr215Ter NC_000008.11:43122468:T:G p.(Tyr215Ter) NC_000008.11:43122468:T:G p.(Tyr215Ter) NC_000008.11:43122468:T:G Identity +NM_000052.7:c.761G>A NP_000043.4:p.Arg254His NC_000023.11:77989382:G:A p.(Arg254His) NC_000023.11:77989382:G:A p.(Arg254His) NC_000023.11:77989382:G:A Identity +NM_000448.3:c.2033_2034del NP_000439.2:p.Leu678fs NC_000011.10:36575333:CTCTC:CTC p.(Leu678HisfsTer3) NC_000011.10:36575333:CTCTC:CTC p.(Leu678HisfsTer3) NC_000011.10:36575336:TC: Analogous +NM_001193640.2:c.2568dup NP_001180569.1:p.Ile857fs NC_000001.11:197434766:T:TT p.(Ile857TyrfsTer29) NC_000001.11:197434766:T:TT p.(Ile857TyrfsTer29) ERR:SPDI Analogous +NM_001193640.2:c.1961G>A NP_001180569.1:p.Trp654Ter NC_000001.11:197427621:G:A p.(Trp654Ter) NC_000001.11:197427621:G:A p.(Trp654Ter) NC_000001.11:197427621:G:A Identity +NM_001407361.1:c.154G>T NP_001394290.1:p.Ala52Ser NC_000001.11:17044806:C:A p.(Ala52Ser) NC_000001.11:17044806:C:A p.(Ala52Ser) NC_000001.11:17044806:C:A Identity +NM_000068.4:c.2543C>T NP_000059.3:p.Thr848Ile NC_000019.10:13299101:G:A p.(Thr848Ile) NC_000019.10:13299101:G:A p.(Thr848Ile) NC_000019.10:13299101:G:A Identity +NM_000112.4:c.309_327del NP_000103.2:p.Asp103fs NC_000005.10:149977959:ACCTAAAGAAAAACATTTTA:A p.(Asp103GlufsTer4) NC_000005.10:149977959:ACCTAAAGAAAAACATTTTA:A p.(Asp103GlufsTer4) NC_000005.10:149977960:CCTAAAGAAAAACATTTTA: Analogous +NM_000806.5:c.85C>A NP_000797.2:p.Pro29Thr NC_000005.10:161854167:C:A p.(Pro29Thr) NC_000005.10:161854167:C:A p.(Pro29Thr) NC_000005.10:161854167:C:A Identity +NM_001424113.1:c.7925C>G NP_001411042.1:p.Thr2642Arg NC_000006.12:75113228:G:C p.(Thr2642Arg) NC_000006.12:75113228:G:C p.(Thr2642Arg) NC_000006.12:75113228:G:C Identity +NM_001256850.1:c.74764dup NP_001243779.1:p.Val24922fs NC_000002.12:178566444:C:CC p.(Val24922GlyfsTer11) NC_000002.12:178566444:C:CC p.(Val24922GlyfsTer11) ERR:SPDI Analogous +NM_001351527.2:c.2124T>G NP_001338456.1:p.Ser708Arg NC_000009.12:132329473:A:C p.(Ser708Arg) NC_000009.12:132329473:A:C p.(Ser708Arg) NC_000009.12:132329473:A:C Identity +NM_001127487.2:c.860C>T NP_001120959.1:p.Pro287Leu NC_000007.14:128837645:C:T p.(Pro287Leu) NC_000007.14:128837645:C:T p.(Pro287Leu) NC_000007.14:128837645:C:T Identity +NM_000138.5:c.7604_7605delinsTG NP_000129.3:p.Cys2535Leu NC_000015.10:48421651:GC:CA p.(Cys2535Leu) NC_000015.10:48421651:GC:CA p.(Cys2535Leu) NC_000015.10:48421651:GC:CA Identity +NM_001324281.3:c.2513C>T NP_001311210.1:p.Ala838Val NC_000007.14:2918584:G:A p.(Ala838Val) NC_000007.14:2918584:G:A p.(Ala838Val) NC_000007.14:2918584:G:A Identity +NM_000052.7:c.1147A>G NP_000043.4:p.Ile383Val NC_000023.11:77989768:A:G p.(Ile383Val) NC_000023.11:77989768:A:G p.(Ile383Val) NC_000023.11:77989768:A:G Identity +NM_000431.4:c.1063del NP_000422.1:p.Ala355fs NC_000012.12:109596447:GG:G p.(Ala355ProfsTer6) NC_000012.12:109596447:GG:G p.(Ala355ProfsTer6) NC_000012.12:109596448:G: Analogous +NM_001244008.2:c.242T>C NP_001230937.1:p.Met81Thr NC_000002.12:240788171:A:G p.(Met81Thr) NC_000002.12:240788171:A:G p.(Met81Thr) NC_000002.12:240788171:A:G Identity +NM_005045.4:c.6850G>A NP_005036.2:p.Ala2284Thr NC_000007.14:103540276:C:T p.(Ala2284Thr) NC_000007.14:103540276:C:T p.(Ala2284Thr) NC_000007.14:103540276:C:T Identity +NM_001369512.1:c.1052T>C NP_001356441.1:p.Leu351Ser NC_000017.11:42331528:A:G p.(Leu351Ser) NC_000017.11:42331528:A:G p.(Leu351Ser) NC_000017.11:42331528:A:G Identity +NM_032043.3:c.1501G>C NP_114432.2:p.Glu501Gln NC_000017.11:61784396:C:G p.(Glu501Gln) NC_000017.11:61784396:C:G p.(Glu501Gln) NC_000017.11:61784396:C:G Identity +NM_001206524.2:c.1208T>C NP_001193453.1:p.Val403Ala NC_000002.12:201209555:T:C p.(Val403Ala) NC_000002.12:201209555:T:C p.(Val403Ala) NC_000002.12:201209555:T:C Identity +NM_001166280.2:c.1334C>G NP_001159752.1:p.Ser445Ter NC_000009.12:110785531:C:G p.(Ser445Ter) NC_000009.12:110785531:C:G p.(Ser445Ter) NC_000009.12:110785531:C:G Identity +NM_001142298.2:c.829T>G NP_001135770.1:p.Ser277Ala NC_000005.10:179833697:T:G p.(Ser277Ala) NC_000005.10:179833697:T:G p.(Ser277Ala) NC_000005.10:179833697:T:G Identity +NM_013334.4:c.618dup NP_037466.3:p.Leu207fs NC_000003.12:49722453:C:CC p.(Leu207AlafsTer36) NC_000003.12:49722453:C:CC p.(Leu207AlafsTer36) ERR:SPDI Analogous +NM_000364.4:c.264G>C NP_000355.2:p.Lys88Asn NC_000001.11:201365639:C:G p.(Lys88Asn) NC_000001.11:201365639:C:G p.(Lys88Asn) NC_000001.11:201365639:C:G Identity +NM_000180.4:c.1408T>C NP_000171.1:p.Phe470Leu NC_000017.11:8007088:T:C p.(Phe470Leu) NC_000017.11:8007088:T:C p.(Phe470Leu) NC_000017.11:8007088:T:C Identity +NM_001127897.4:c.1340del NP_001121369.1:p.Leu447fs NC_000016.10:53658781:AA:A p.(Leu447CysfsTer13) NC_000016.10:53658781:AA:A p.(Leu447CysfsTer13) NC_000016.10:53658781:A: Analogous +NM_001142649.2:c.683A>G NP_001136121.1:p.Glu228Gly NC_000011.10:22236199:A:G p.(Glu228Gly) NC_000011.10:22236199:A:G p.(Glu228Gly) NC_000011.10:22236199:A:G Identity +NM_000089.4:c.346C>T NP_000080.2:p.Pro116Ser NC_000007.14:94404713:C:T p.(Pro116Ser) NC_000007.14:94404713:C:T p.(Pro116Ser) NC_000007.14:94404713:C:T Identity +NM_001256850.1:c.81988G>T NP_001243779.1:p.Gly27330Ter NC_000002.12:178558547:C:A p.(Gly27330Ter) NC_000002.12:178558547:C:A p.(Gly27330Ter) NC_000002.12:178558547:C:A Identity +NM_001103.4:c.1609G>T NP_001094.1:p.Glu537Ter NC_000001.11:236749216:G:T p.(Glu537Ter) NC_000001.11:236749216:G:T p.(Glu537Ter) NC_000001.11:236749216:G:T Identity +NM_005559.4:c.7451A>C NP_005550.2:p.Glu2484Ala NC_000018.10:6961945:T:G p.(Glu2484Ala) NC_000018.10:6961945:T:G p.(Glu2484Ala) NC_000018.10:6961945:T:G Identity +NM_000875.5:c.784C>T NP_000866.1:p.Pro262Ser NC_000015.10:98891467:C:T p.(Pro262Ser) NC_000015.10:98891467:C:T p.(Pro262Ser) NC_000015.10:98891467:C:T Identity +NM_001142298.2:c.61T>G NP_001135770.1:p.Cys21Gly NC_000005.10:179823868:T:G p.(Cys21Gly) NC_000005.10:179823868:T:G p.(Cys21Gly) NC_000005.10:179823868:T:G Identity +NM_001127656.1:c.157G>A NP_001121128.1:p.Glu53Lys NC_000011.10:19188259:C:T ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001127656.1, alt_ac=NM_001127656.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001127656.1 not found +NM_001256850.1:c.102007G>C NP_001243779.1:p.Glu34003Gln NC_000002.12:178528820:C:G p.(Glu34003Gln) NC_000002.12:178528820:C:G p.(Glu34003Gln) NC_000002.12:178528820:C:G Identity +NM_000083.3:c.158G>T NP_000074.3:p.Arg53Leu NC_000007.14:143316369:G:T p.(Arg53Leu) NC_000007.14:143316369:G:T p.(Arg53Leu) NC_000007.14:143316369:G:T Identity +NM_001256850.1:c.45358_45361del NP_001243779.1:p.Val15120fs NC_000002.12:178612126:CAACCA:CA p.(Val15120MetfsTer2) NC_000002.12:178612126:CAACCA:CA p.(Val15120MetfsTer2) NC_000002.12:178612126:CAAC: Analogous +NM_001282368.2:c.266A>C NP_001269297.1:p.Lys89Thr NC_000006.12:76025255:T:G p.(Lys89Thr) NC_000006.12:76025255:T:G p.(Lys89Thr) NC_000006.12:76025255:T:G Identity +NM_001366253.2:c.2096C>T NP_001353182.1:p.Thr699Met NC_000017.11:532830:G:A p.(Thr699Met) NC_000017.11:532830:G:A p.(Thr699Met) NC_000017.11:532830:G:A Identity +NM_001100112.2:c.3904G>C NP_001093582.1:p.Ala1302Pro NC_000017.11:10527023:C:G p.(Ala1302Pro) NC_000017.11:10527023:C:G p.(Ala1302Pro) NC_000017.11:10527023:C:G Identity +NM_001286613.2:c.1039G>A NP_001273542.1:p.Glu347Lys NC_000006.12:109450508:C:T p.(Glu347Lys) NC_000006.12:109450508:C:T p.(Glu347Lys) NC_000006.12:109450508:C:T Identity +NM_144772.3:c.184C>T NP_658985.2:p.Gln62Ter NC_000001.11:156592101:C:T p.(Gln62Ter) NC_000001.11:156592101:C:T p.(Gln62Ter) NC_000001.11:156592101:C:T Identity +NM_000021.4:c.895G>T NP_000012.1:p.Ala299Ser NC_000014.9:73206411:G:T p.(Ala299Ser) NC_000014.9:73206411:G:T p.(Ala299Ser) NC_000014.9:73206411:G:T Identity +NM_000329.3:c.557A>T NP_000320.1:p.Asp186Val NC_000001.11:68440938:T:A p.(Asp186Val) NC_000001.11:68440938:T:A p.(Asp186Val) NC_000001.11:68440938:T:A Identity +NM_000278.5:c.71G>T NP_000269.3:p.Gly24Val NC_000010.11:100749772:G:T p.(Gly24Val) NC_000010.11:100749772:G:T p.(Gly24Val) NC_000010.11:100749772:G:T Identity +NM_001136024.4:c.419T>C NP_001129496.1:p.Met140Thr NC_000023.11:17721474:T:C p.(Met140Thr) NC_000023.11:17721474:T:C p.(Met140Thr) NC_000023.11:17721474:T:C Identity +NM_001197104.2:c.9539_9541del NP_001184033.1:p.Ile3180del NC_000011.10:118505428:CATCA:CA p.(Ile3180del) NC_000011.10:118505428:CATCA:CA p.(Ile3180del) NC_000011.10:118505430:TCA: Identity +NM_000921.5:c.340G>A NP_000912.3:p.Gly114Arg NC_000012.12:20369623:G:A p.(Gly114Arg) NC_000012.12:20369623:G:A p.(Gly114Arg) NC_000012.12:20369623:G:A Identity +NM_030662.4:c.1085T>G NP_109587.1:p.Met362Arg NC_000019.10:4094459:A:C p.(Met362Arg) NC_000019.10:4094459:A:C p.(Met362Arg) NC_000019.10:4094459:A:C Identity +NM_001006658.3:c.1518T>A NP_001006659.1:p.Tyr506Ter NC_000001.11:207471446:T:A p.(Tyr506Ter) NC_000001.11:207471446:T:A p.(Tyr506Ter) NC_000001.11:207471446:T:A Identity +NM_001277115.2:c.10771C>T NP_001264044.1:p.His3591Tyr NC_000007.14:21842622:C:T p.(His3591Tyr) NC_000007.14:21842622:C:T p.(His3591Tyr) NC_000007.14:21842622:C:T Identity +NM_000816.3:c.1036G>T NP_000807.2:p.Val346Phe NC_000005.10:162149220:G:T p.(Val346Phe) NC_000005.10:162149220:G:T p.(Val346Phe) NC_000005.10:162149220:G:T Identity +NM_001177984.3:c.5615G>A NP_001171455.1:p.Arg1872Gln NC_000012.12:51807223:G:A p.(Arg1872Gln) NC_000012.12:51807223:G:A p.(Arg1872Gln) NC_000012.12:51807223:G:A Identity +NM_001039590.3:c.755T>C NP_001034679.2:p.Ile252Thr NC_000023.11:41140755:T:C p.(Ile252Thr) NC_000023.11:41140755:T:C p.(Ile252Thr) NC_000023.11:41140755:T:C Identity +NM_006739.4:c.1954G>A NP_006730.2:p.Ala652Thr NC_000022.11:35421438:G:A p.(Ala652Thr) NC_000022.11:35421438:G:A p.(Ala652Thr) NC_000022.11:35421438:G:A Identity +NM_001146151.3:c.923G>A NP_001139623.1:p.Arg308His NC_000023.11:153906428:G:A p.(Arg308His) NC_000023.11:153906428:G:A p.(Arg308His) NC_000023.11:153906428:G:A Identity +NM_001160227.2:c.6448C>T NP_001153699.1:p.Gln2150Ter NC_000015.10:44566272:G:A p.(Gln2150Ter) NC_000015.10:44566272:G:A p.(Gln2150Ter) NC_000015.10:44566272:G:A Identity +NM_000153.4:c.50T>A NP_000144.2:p.Met17Lys NC_000014.9:87993114:A:T p.(Met17Lys) NC_000014.9:87993114:A:T p.(Met17Lys) NC_000014.9:87993114:A:T Identity +NM_000138.5:c.8240_8241del NP_000129.3:p.Thr2747fs NC_000015.10:48411364:TGT:T p.(Thr2747ArgfsTer12) NC_000015.10:48411364:TGT:T p.(Thr2747ArgfsTer12) NC_000015.10:48411364:TG: Analogous +NM_015295.3:c.200C>T NP_056110.2:p.Ser67Leu NC_000018.10:2666169:C:T p.(Ser67Leu) NC_000018.10:2666169:C:T p.(Ser67Leu) NC_000018.10:2666169:C:T Identity +NM_001146289.2:c.1205_1206del NP_001139761.1:p.Arg402fs NC_000001.11:42755181:TCTCT:TCT p.(Arg402IlefsTer53) NC_000001.11:42755181:TCTCT:TCT p.(Arg402IlefsTer53) NC_000001.11:42755181:TC: Analogous +NM_014244.5:c.417G>A NP_055059.2:p.Trp139Ter NC_000005.10:179343883:C:T p.(Trp139Ter) NC_000005.10:179343883:C:T p.(Trp139Ter) NC_000005.10:179343883:C:T Identity +NM_024642.5:c.446G>T NP_078918.3:p.Trp149Leu NC_000009.12:98823329:G:T p.(Trp149Leu) NC_000009.12:98823329:G:T p.(Trp149Leu) NC_000009.12:98823329:G:T Identity +NM_006269.2:c.1084G>A NP_006260.1:p.Asp362Asn NC_000008.11:54624965:G:A p.(Asp362Asn) NC_000008.11:54624965:G:A p.(Asp362Asn) NC_000008.11:54624965:G:A Identity +NM_001261826.3:c.2998C>T NP_001248755.1:p.Arg1000Trp NC_000019.10:2110883:G:A p.(Arg1000Trp) NC_000019.10:2110883:G:A p.(Arg1000Trp) NC_000019.10:2110883:G:A Identity +NM_000226.4:c.1679G>A NP_000217.2:p.Gly560Glu NC_000017.11:41567465:C:T p.(Gly560Glu) NC_000017.11:41567465:C:T p.(Gly560Glu) NC_000017.11:41567465:C:T Identity +NM_006766.5:c.2642A>G NP_006757.2:p.Asp881Gly NC_000008.11:41941238:T:C p.(Asp881Gly) NC_000008.11:41941238:T:C p.(Asp881Gly) NC_000008.11:41941238:T:C Identity +NM_138477.4:c.2678C>T NP_612486.2:p.Ala893Val NC_000015.10:42728777:G:A p.(Ala893Val) NC_000015.10:42728777:G:A p.(Ala893Val) NC_000015.10:42728777:G:A Identity +NM_001605.3:c.598G>A NP_001596.2:p.Ala200Thr NC_000016.10:70271853:C:T p.(Ala200Thr) NC_000016.10:70271853:C:T p.(Ala200Thr) NC_000016.10:70271853:C:T Identity +NM_001276270.2:c.451A>G NP_001263199.1:p.Ile151Val NC_000003.12:129437192:T:C p.(Ile151Val) NC_000003.12:129437192:T:C p.(Ile151Val) NC_000003.12:129437192:T:C Identity +NM_001129.5:c.1279G>A NP_001120.3:p.Asp427Asn NC_000007.14:44110224:G:A p.(Asp427Asn) NC_000007.14:44110224:G:A p.(Asp427Asn) NC_000007.14:44110224:G:A Identity +NM_001375606.1:c.343C>T NP_001362535.1:p.Pro115Ser NC_000002.12:127422958:C:T p.(Pro115Ser) NC_000002.12:127422958:C:T p.(Pro115Ser) NC_000002.12:127422958:C:T Identity +NM_001194998.2:c.1348C>T NP_001181927.1:p.Gln450Ter NC_000015.10:48782203:G:A p.(Gln450Ter) NC_000015.10:48782203:G:A p.(Gln450Ter) NC_000015.10:48782203:G:A Identity +NM_000218.3:c.1223C>G NP_000209.2:p.Pro408Arg NC_000011.10:2587663:C:G p.(Pro408Arg) NC_000011.10:2587663:C:G p.(Pro408Arg) NC_000011.10:2587663:C:G Identity +NM_001197104.2:c.7555C>T NP_001184033.1:p.Arg2519Trp NC_000011.10:118503446:C:T p.(Arg2519Trp) NC_000011.10:118503446:C:T p.(Arg2519Trp) NC_000011.10:118503446:C:T Identity +NM_001035.3:c.5320G>A NP_001026.2:p.Glu1774Lys NC_000001.11:237614447:G:A p.(Glu1774Lys) NC_000001.11:237614447:G:A p.(Glu1774Lys) NC_000001.11:237614447:G:A Identity +NM_001085487.3:c.845A>G NP_001078956.1:p.Asn282Ser NC_000001.11:58682198:T:C p.(Asn282Ser) NC_000001.11:58682198:T:C p.(Asn282Ser) NC_000001.11:58682198:T:C Identity +NM_001288607.2:c.1142_1143del NP_001275536.1:p.Pro381fs NC_000001.11:150554374:CT: p.(Pro381ArgfsTer14) NC_000001.11:150554374:CT: p.(Pro381ArgfsTer14) NC_000001.11:150554374:CT: Analogous +NM_001199397.3:c.3806A>T NP_001186326.1:p.Lys1269Met NC_000004.12:169400265:T:A p.(Lys1269Met) NC_000004.12:169400265:T:A p.(Lys1269Met) NC_000004.12:169400265:T:A Identity +NM_145290.4:c.32C>G NP_660333.2:p.Ala11Gly NC_000004.12:22515752:G:C p.(Ala11Gly) NC_000004.12:22515752:G:C p.(Ala11Gly) NC_000004.12:22515752:G:C Identity +NM_000043.6:c.869C>T NP_000034.1:p.Ala290Val NC_000010.11:89014310:C:T p.(Ala290Val) NC_000010.11:89014310:C:T p.(Ala290Val) NC_000010.11:89014310:C:T Identity +NM_001425321.1:c.1351C>T NP_001412250.1:p.Arg451Trp NC_000011.10:77119092:C:T p.(Arg451Trp) NC_000011.10:77119092:C:T p.(Arg451Trp) NC_000011.10:77119092:C:T Identity +NM_001285549.2:c.6134G>A NP_001272478.1:p.Arg2045Gln NC_000002.12:206310667:G:A p.(Arg2045Gln) NC_000002.12:206310667:G:A p.(Arg2045Gln) NC_000002.12:206310667:G:A Identity +NM_000204.5:c.779A>G NP_000195.3:p.Gln260Arg NC_000004.12:109760373:T:C p.(Gln260Arg) NC_000004.12:109760373:T:C p.(Gln260Arg) NC_000004.12:109760373:T:C Identity +NM_001411087.1:c.140T>C NP_001398016.1:p.Val47Ala NC_000019.10:45002981:T:C p.(Val47Ala) NC_000019.10:45002981:T:C p.(Val47Ala) NC_000019.10:45002981:T:C Identity +NM_005430.4:c.98G>T NP_005421.1:p.Arg33Leu NC_000012.12:48978747:G:T p.(Arg33Leu) NC_000012.12:48978747:G:T p.(Arg33Leu) NC_000012.12:48978747:G:T Identity +NM_001411087.1:c.472A>G NP_001398016.1:p.Ser158Gly NC_000019.10:45012252:A:G p.(Ser158Gly) NC_000019.10:45012252:A:G p.(Ser158Gly) NC_000019.10:45012252:A:G Identity +NM_001130066.2:c.2981A>G NP_001123538.1:p.Asp994Gly NC_000006.12:33443574:A:G p.(Asp994Gly) NC_000006.12:33443574:A:G p.(Asp994Gly) NC_000006.12:33443574:A:G Identity +NM_001004334.4:c.72G>C NP_001004334.3:p.Trp24Cys NC_000017.11:38343717:C:G p.(Trp24Cys) NC_000017.11:38343717:C:G p.(Trp24Cys) NC_000017.11:38343717:C:G Identity +NM_001039490.2:c.256C>T NP_001034579.1:p.Arg86Cys NC_000011.10:836421:C:T p.(Arg86Cys) NC_000011.10:836421:C:T p.(Arg86Cys) NC_000011.10:836421:C:T Identity +NM_006517.5:c.269_270delinsAA NP_006508.2:p.Arg90Gln NC_000023.11:74421905:GC:AA p.(Arg90Gln) NC_000023.11:74421905:GC:AA p.(Arg90Gln) NC_000023.11:74421905:GC:AA Identity +NM_001163813.2:c.463C>T NP_001157285.1:p.Arg155Cys NC_000010.11:100993279:C:T p.(Arg155Cys) NC_000010.11:100993279:C:T p.(Arg155Cys) NC_000010.11:100993279:C:T Identity +NM_001410755.1:c.988G>T NP_001397684.1:p.Asp330Tyr NC_000001.11:15727119:G:T p.(Asp330Tyr) NC_000001.11:15727119:G:T p.(Asp330Tyr) NC_000001.11:15727119:G:T Identity +NM_000836.4:c.1861C>T NP_000827.2:p.Arg621Cys NC_000019.10:48419358:C:T p.(Arg621Cys) NC_000019.10:48419358:C:T p.(Arg621Cys) NC_000019.10:48419358:C:T Identity +NM_001243835.2:c.527A>G NP_001230764.1:p.Lys176Arg NC_000002.12:191069709:T:C p.(Lys176Arg) NC_000002.12:191069709:T:C p.(Lys176Arg) NC_000002.12:191069709:T:C Identity +NM_145290.4:c.3076G>A NP_660333.2:p.Val1026Ile NC_000004.12:22388594:C:T p.(Val1026Ile) NC_000004.12:22388594:C:T p.(Val1026Ile) NC_000004.12:22388594:C:T Identity +NM_001853.4:c.1596G>A NP_001844.3:p.Met532Ile NC_000020.11:62836524:G:A p.(Met532Ile) NC_000020.11:62836524:G:A p.(Met532Ile) NC_000020.11:62836524:G:A Identity +NM_001276479.2:c.1093G>A NP_001263408.1:p.Val365Met NC_000019.10:5705853:C:T p.(Val365Met) NC_000019.10:5705853:C:T p.(Val365Met) NC_000019.10:5705853:C:T Identity +NM_001306129.2:c.7160G>A NP_001293058.2:p.Gly2387Asp NC_000002.12:215362077:C:T p.(Gly2387Asp) NC_000002.12:215362077:C:T p.(Gly2387Asp) NC_000002.12:215362077:C:T Identity +NM_000143.4:c.22C>T NP_000134.2:p.Leu8Phe NC_000001.11:241519700:G:A p.(Leu8Phe) NC_000001.11:241519700:G:A p.(Leu8Phe) NC_000001.11:241519700:G:A Identity +NM_139057.4:c.1507G>A NP_620688.2:p.Glu503Lys NC_000015.10:100133281:C:T p.(Glu503Lys) NC_000015.10:100133281:C:T p.(Glu503Lys) NC_000015.10:100133281:C:T Identity +NM_000553.6:c.2701A>G NP_000544.2:p.Lys901Glu NC_000008.11:31124591:A:G p.(Lys901Glu) NC_000008.11:31124591:A:G p.(Lys901Glu) NC_000008.11:31124591:A:G Identity +NM_015180.6:c.6250A>C NP_055995.4:p.Lys2084Gln NC_000014.9:64025418:A:C p.(Lys2084Gln) NC_000014.9:64025418:A:C p.(Lys2084Gln) NC_000014.9:64025418:A:C Identity +NM_001256876.3:c.1558G>A NP_001243805.1:p.Val520Met NC_000009.12:712323:G:A p.(Val520Met) NC_000009.12:712323:G:A p.(Val520Met) NC_000009.12:712323:G:A Identity +NM_001320269.2:c.161G>A NP_001307198.1:p.Gly54Asp NC_000001.11:62268472:C:T p.(Gly54Asp) NC_000001.11:62268472:C:T p.(Gly54Asp) NC_000001.11:62268472:C:T Identity +NM_001306219.3:c.806G>A NP_001293148.1:p.Arg269Gln NC_000015.10:57253316:G:A p.(Arg269Gln) NC_000015.10:57253316:G:A p.(Arg269Gln) NC_000015.10:57253316:G:A Identity +NM_001068.3:c.4270A>G NP_001059.2:p.Lys1424Glu NC_000003.12:25607183:T:C p.(Lys1424Glu) NC_000003.12:25607183:T:C p.(Lys1424Glu) NC_000003.12:25607183:T:C Identity +NM_000540.3:c.2312A>C NP_000531.2:p.Asn771Thr NC_000019.10:38459289:A:C p.(Asn771Thr) NC_000019.10:38459289:A:C p.(Asn771Thr) NC_000019.10:38459289:A:C Identity +NM_004204.5:c.758G>A NP_004195.2:p.Arg253Gln NC_000016.10:575906:G:A p.(Arg253Gln) NC_000016.10:575906:G:A p.(Arg253Gln) NC_000016.10:575906:G:A Identity +NM_000540.3:c.6716T>G NP_000531.2:p.Phe2239Cys NC_000019.10:38496460:T:G p.(Phe2239Cys) NC_000019.10:38496460:T:G p.(Phe2239Cys) NC_000019.10:38496460:T:G Identity +NM_005876.5:c.6065G>C NP_005867.3:p.Arg2022Pro NC_000002.12:219483527:G:C p.(Arg2022Pro) NC_000002.12:219483527:G:C p.(Arg2022Pro) NC_000002.12:219483527:G:C Identity +NM_001410842.1:c.2002G>T NP_001397771.1:p.Val668Leu NC_000004.12:139376418:G:T p.(Val668Leu) NC_000004.12:139376418:G:T p.(Val668Leu) NC_000004.12:139376418:G:T Identity +NM_001852.4:c.815C>T NP_001843.1:p.Pro272Leu NC_000001.11:40309968:G:A p.(Pro272Leu) NC_000001.11:40309968:G:A p.(Pro272Leu) NC_000001.11:40309968:G:A Identity +NM_024577.4:c.1160C>T NP_078853.2:p.Pro387Leu NC_000005.10:149028693:G:A p.(Pro387Leu) NC_000005.10:149028693:G:A p.(Pro387Leu) NC_000005.10:149028693:G:A Identity +NM_001306129.2:c.4331G>C NP_001293058.2:p.Arg1444Thr NC_000002.12:215388222:C:G p.(Arg1444Thr) NC_000002.12:215388222:C:G p.(Arg1444Thr) NC_000002.12:215388222:C:G Identity +NM_001382630.1:c.262G>C NP_001369559.1:p.Ala88Pro NC_000006.12:73644435:C:G p.(Ala88Pro) NC_000006.12:73644435:C:G p.(Ala88Pro) NC_000006.12:73644435:C:G Identity +NM_000416.3:c.712A>G NP_000407.1:p.Ile238Val NC_000006.12:137203519:T:C p.(Ile238Val) NC_000006.12:137203519:T:C p.(Ile238Val) NC_000006.12:137203519:T:C Identity +NM_139025.5:c.1108C>T NP_620594.1:p.Arg370Cys NC_000009.12:133433392:C:T p.(Arg370Cys) NC_000009.12:133433392:C:T p.(Arg370Cys) NC_000009.12:133433392:C:T Identity +NM_145059.3:c.3020G>T NP_659496.2:p.Arg1007Leu NC_000016.10:70479269:G:T p.(Arg1007Leu) NC_000016.10:70479269:G:T p.(Arg1007Leu) NC_000016.10:70479269:G:T Identity +NM_001042544.1:c.3523C>T NP_001036009.1:p.Pro1175Ser NC_000019.10:40622504:C:T p.(Pro1175Ser) NC_000019.10:40622504:C:T p.(Pro1175Ser) NC_000019.10:40622504:C:T Identity +NM_172364.5:c.727A>G NP_758952.4:p.Thr243Ala NC_000012.12:1907493:T:C p.(Thr243Ala) NC_000012.12:1907493:T:C p.(Thr243Ala) NC_000012.12:1907493:T:C Identity +NM_001168370.2:c.1168C>T NP_001161842.2:p.Arg390Cys NC_000006.12:43051128:G:A p.(Arg390Cys) NC_000006.12:43051128:G:A p.(Arg390Cys) NC_000006.12:43051128:G:A Identity +NM_005144.5:c.3287G>A NP_005135.2:p.Arg1096Gln NC_000008.11:22116965:C:T p.(Arg1096Gln) NC_000008.11:22116965:C:T p.(Arg1096Gln) NC_000008.11:22116965:C:T Identity +NM_014727.3:c.6169C>T NP_055542.1:p.Arg2057Cys NC_000019.10:35732717:C:T p.(Arg2057Cys) NC_000019.10:35732717:C:T p.(Arg2057Cys) NC_000019.10:35732717:C:T Identity +NM_001161357.2:c.2562C>T NP_001154829.1:p.Ser854= NC_000019.10:17787760:C:T p.(Ser854=) NC_000019.10:17787760:C:T p.(Ser854=) NC_000019.10:17787760:C:T Identity +NM_001110792.2:c.839G>A NP_001104262.1:p.Arg280Gln NC_000023.11:154031024:C:T p.(Arg280Gln) NC_000023.11:154031024:C:T p.(Arg280Gln) NC_000023.11:154031024:C:T Identity +NM_000548.5:c.1804T>C NP_000539.2:p.Tyr602His NC_000016.10:2070542:T:C p.(Tyr602His) NC_000016.10:2070542:T:C p.(Tyr602His) NC_000016.10:2070542:T:C Identity +NM_001291088.2:c.7022A>G NP_001278017.1:p.Lys2341Arg NC_000019.10:37886648:T:C p.(Lys2341Arg) NC_000019.10:37886648:T:C p.(Lys2341Arg) NC_000019.10:37886648:T:C Identity +NM_001256876.3:c.1483G>A NP_001243805.1:p.Ala495Thr NC_000009.12:712248:G:A p.(Ala495Thr) NC_000009.12:712248:G:A p.(Ala495Thr) NC_000009.12:712248:G:A Identity +NM_001846.4:c.3287C>T NP_001837.2:p.Thr1096Ile NC_000013.11:110489725:C:T p.(Thr1096Ile) NC_000013.11:110489725:C:T p.(Thr1096Ile) NC_000013.11:110489725:C:T Identity +NM_001206927.2:c.5399T>A NP_001193856.1:p.Phe1800Tyr NC_000006.12:38851606:T:A p.(Phe1800Tyr) NC_000006.12:38851606:T:A p.(Phe1800Tyr) NC_000006.12:38851606:T:A Identity +NM_001447.3:c.890G>A NP_001438.1:p.Gly297Glu NC_000005.10:151568041:C:T p.(Gly297Glu) NC_000005.10:151568041:C:T p.(Gly297Glu) NC_000005.10:151568041:C:T Identity +NM_001252043.2:c.2669A>G NP_001238972.1:p.Tyr890Cys NC_000016.10:29987279:A:G p.(Tyr890Cys) NC_000016.10:29987279:A:G p.(Tyr890Cys) NC_000016.10:29987279:A:G Identity +NM_015243.3:c.1378del NP_056058.2:p.Ile460fs NC_000008.11:99135088:AA:A p.(Ile460LeufsTer11) NC_000008.11:99135088:AA:A p.(Ile460LeufsTer11) NC_000008.11:99135089:A: Analogous +NM_001278192.2:c.697A>G NP_001265121.1:p.Ile233Val NC_000011.10:62632587:T:C p.(Ile233Val) NC_000011.10:62632587:T:C p.(Ile233Val) NC_000011.10:62632587:T:C Identity +NM_000051.4:c.3389G>T NP_000042.3:p.Gly1130Val NC_000011.10:108279594:G:T p.(Gly1130Val) NC_000011.10:108279594:G:T p.(Gly1130Val) NC_000011.10:108279594:G:T Identity +NM_021044.4:c.602C>A NP_066382.1:p.Pro201Gln NC_000012.12:49090447:G:T p.(Pro201Gln) NC_000012.12:49090447:G:T p.(Pro201Gln) NC_000012.12:49090447:G:T Identity +NM_001039590.3:c.2315A>G NP_001034679.2:p.Asp772Gly NC_000023.11:41166200:A:G p.(Asp772Gly) NC_000023.11:41166200:A:G p.(Asp772Gly) NC_000023.11:41166200:A:G Identity +NM_001281428.2:c.1007G>A NP_001268357.1:p.Arg336His NC_000009.12:34500814:G:A p.(Arg336His) NC_000009.12:34500814:G:A p.(Arg336His) NC_000009.12:34500814:G:A Identity +NM_002496.4:c.319G>A NP_002487.1:p.Gly107Arg NC_000011.10:68033229:G:A p.(Gly107Arg) NC_000011.10:68033229:G:A p.(Gly107Arg) NC_000011.10:68033229:G:A Identity +NM_174916.3:c.941C>T NP_777576.1:p.Ala314Val NC_000015.10:43059745:G:A p.(Ala314Val) NC_000015.10:43059745:G:A p.(Ala314Val) NC_000015.10:43059745:G:A Identity +NM_001270507.2:c.1705C>T NP_001257436.1:p.Arg569Trp NC_000006.12:137879149:C:T p.(Arg569Trp) NC_000006.12:137879149:C:T p.(Arg569Trp) NC_000006.12:137879149:C:T Identity +NM_170606.3:c.6136C>G NP_733751.2:p.Pro2046Ala NC_000007.14:152181723:G:C p.(Pro2046Ala) NC_000007.14:152181723:G:C p.(Pro2046Ala) NC_000007.14:152181723:G:C Identity +NM_001113491.2:c.1600G>A NP_001106963.1:p.Ala534Thr NC_000017.11:77497340:G:A p.(Ala534Thr) NC_000017.11:77497340:G:A p.(Ala534Thr) NC_000017.11:77497340:G:A Identity +NM_138395.4:c.548C>T NP_612404.1:p.Thr183Ile NC_000002.12:197705952:C:T p.(Thr183Ile) NC_000002.12:197705952:C:T p.(Thr183Ile) NC_000002.12:197705952:C:T Identity +NM_182493.3:c.424A>G NP_872299.2:p.Met142Val NC_000016.10:46747769:T:C p.(Met142Val) NC_000016.10:46747769:T:C p.(Met142Val) NC_000016.10:46747769:T:C Identity +NM_001385913.1:c.1390G>A NP_001372842.1:p.Asp464Asn NC_000009.12:32485249:C:T p.(Asp464Asn) NC_000009.12:32485249:C:T p.(Asp464Asn) NC_000009.12:32485249:C:T Identity +NM_002470.4:c.3937A>G NP_002461.2:p.Thr1313Ala NC_000017.11:10635772:T:C p.(Thr1313Ala) NC_000017.11:10635772:T:C p.(Thr1313Ala) NC_000017.11:10635772:T:C Identity +NM_001310332.2:c.1163C>T NP_001297261.1:p.Ala388Val NC_000014.9:24151257:C:T p.(Ala388Val) NC_000014.9:24151257:C:T p.(Ala388Val) NC_000014.9:24151257:C:T Identity +NM_001318204.2:c.1227C>G NP_001305133.1:p.Ala409= NC_000009.12:91726665:G:C p.(Ala409=) NC_000009.12:91726665:G:C p.(Ala409=) NC_000009.12:91726665:G:C Identity +NM_001308133.2:c.5019_5022del NP_001295062.1:p.Lys1673fs NC_000014.9:45189113:AACAAACAA:AACAA p.(Lys1673AsnfsTer6) NC_000014.9:45189113:AACAAACAA:AACAA p.(Lys1673AsnfsTer6) NC_000014.9:45189118:ACAA: Analogous +NM_001369268.1:c.6881A>C NP_001356197.1:p.Lys2294Thr NC_000015.10:88860373:A:C p.(Lys2294Thr) NC_000015.10:88860373:A:C p.(Lys2294Thr) NC_000015.10:88860373:A:C Identity +NM_032816.5:c.1882dup NP_116205.3:p.Cys628fs NC_000019.10:32887834:A:AA p.(Cys628LeufsTer5) NC_000019.10:32887834:A:AA p.(Cys628LeufsTer5) ERR:SPDI Analogous +NM_001256442.2:c.840G>A NP_001243371.1:p.Met280Ile NC_000016.10:29813893:G:A p.(Met280Ile) NC_000016.10:29813893:G:A p.(Met280Ile) NC_000016.10:29813893:G:A Identity +NM_001145844.1:c.4738A>G NP_001139316.1:p.Arg1580Gly NC_000003.12:78600180:T:C ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001145844.1, alt_ac=NM_001145844.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001145844.1 not found +NM_001166598.2:c.698G>A NP_001160070.1:p.Arg233Gln NC_000011.10:116790530:C:T p.(Arg233Gln) NC_000011.10:116790530:C:T p.(Arg233Gln) NC_000011.10:116790530:C:T Identity +NM_014844.5:c.3863G>A NP_055659.2:p.Trp1288Ter NC_000014.9:102497051:G:A p.(Trp1288Ter) NC_000014.9:102497051:G:A p.(Trp1288Ter) NC_000014.9:102497051:G:A Identity +NM_001290048.2:c.1181G>A NP_001276977.1:p.Arg394His NC_000011.10:63631343:C:T p.(Arg394His) NC_000011.10:63631343:C:T p.(Arg394His) NC_000011.10:63631343:C:T Identity +NM_020529.3:c.184G>A NP_065390.1:p.Gly62Ser NC_000014.9:35404460:C:T p.(Gly62Ser) NC_000014.9:35404460:C:T p.(Gly62Ser) NC_000014.9:35404460:C:T Identity +NM_001411020.1:c.3582T>A NP_001397949.1:p.Phe1194Leu NC_000014.9:50118661:A:T p.(Phe1194Leu) NC_000014.9:50118661:A:T p.(Phe1194Leu) NC_000014.9:50118661:A:T Identity +NM_001378761.1:c.6490A>T NP_001365690.1:p.Ile2164Phe NC_000011.10:121166741:A:T p.(Ile2164Phe) NC_000011.10:121166741:A:T p.(Ile2164Phe) NC_000011.10:121166741:A:T Identity +NM_001277115.2:c.5915G>A NP_001264044.1:p.Arg1972Lys NC_000007.14:21687517:G:A p.(Arg1972Lys) NC_000007.14:21687517:G:A p.(Arg1972Lys) NC_000007.14:21687517:G:A Identity +NM_001166133.2:c.5873T>G NP_001159605.1:p.Val1958Gly NC_000004.12:78445728:T:G p.(Val1958Gly) NC_000004.12:78445728:T:G p.(Val1958Gly) NC_000004.12:78445728:T:G Identity +NM_001130066.2:c.2479G>A NP_001123538.1:p.Val827Met NC_000006.12:33443072:G:A p.(Val827Met) NC_000006.12:33443072:G:A p.(Val827Met) NC_000006.12:33443072:G:A Identity +NM_000324.3:c.797A>G NP_000315.2:p.Lys266Arg NC_000006.12:49614696:T:C p.(Lys266Arg) NC_000006.12:49614696:T:C p.(Lys266Arg) NC_000006.12:49614696:T:C Identity +NM_175875.5:c.382C>A NP_787071.3:p.Arg128Ser NC_000019.10:45768462:G:T p.(Arg128Ser) NC_000019.10:45768462:G:T p.(Arg128Ser) NC_000019.10:45768462:G:T Identity +NM_001291726.2:c.347T>C NP_001278655.1:p.Met116Thr NC_000017.11:39674049:A:G p.(Met116Thr) NC_000017.11:39674049:A:G p.(Met116Thr) NC_000017.11:39674049:A:G Identity +NM_004501.3:c.163C>T NP_004492.2:p.Pro55Ser NC_000001.11:244864144:G:A p.(Pro55Ser) NC_000001.11:244864144:G:A p.(Pro55Ser) NC_000001.11:244864144:G:A Identity +NM_000321.3:c.1906T>C NP_000312.2:p.Phe636Leu NC_000013.11:48456294:T:C p.(Phe636Leu) NC_000013.11:48456294:T:C p.(Phe636Leu) NC_000013.11:48456294:T:C Identity +NM_001029882.3:c.1202G>A NP_001025053.1:p.Arg401Gln NC_000001.11:27550913:C:T p.(Arg401Gln) NC_000001.11:27550913:C:T p.(Arg401Gln) NC_000001.11:27550913:C:T Identity +NM_000038.6:c.8179C>A NP_000029.2:p.Gln2727Lys NC_000005.10:112843772:C:A p.(Gln2727Lys) NC_000005.10:112843772:C:A p.(Gln2727Lys) NC_000005.10:112843772:C:A Identity +NM_001098398.2:c.307C>T NP_001091868.1:p.His103Tyr NC_000001.11:160335243:G:A p.(His103Tyr) NC_000001.11:160335243:G:A p.(His103Tyr) NC_000001.11:160335243:G:A Identity +NM_004525.3:c.11996_11997delinsGA NP_004516.2:p.Val3999Gly NC_000002.12:169157392:AA:TC p.(Val3999Gly) NC_000002.12:169157392:AA:TC p.(Val3999Gly) NC_000002.12:169157392:AA:TC Identity +NM_001385401.1:c.599C>T NP_001372330.1:p.Pro200Leu NC_000014.9:24164083:C:T p.(Pro200Leu) NC_000014.9:24164083:C:T p.(Pro200Leu) NC_000014.9:24164083:C:T Identity +NM_139318.5:c.2509A>G NP_647479.2:p.Met837Val NC_000014.9:62707965:T:C p.(Met837Val) NC_000014.9:62707965:T:C p.(Met837Val) NC_000014.9:62707965:T:C Identity +NM_001353082.2:c.2605_2607del NP_001340011.1:p.Pro869del NC_000017.11:59001727:AGGAG:AG p.(Pro869del) NC_000017.11:59001727:AGGAG:AG p.(Pro869del) NC_000017.11:59001727:AGG: Identity +NM_025179.4:c.4555G>A NP_079455.3:p.Val1519Met NC_000001.11:208038929:C:T p.(Val1519Met) NC_000001.11:208038929:C:T p.(Val1519Met) NC_000001.11:208038929:C:T Identity +NM_001377498.1:c.546del NP_001364427.1:p.Glu182fs NC_000002.12:219146721:TT:T p.(Glu182AspfsTer13) NC_000002.12:219146721:TT:T p.(Glu182AspfsTer13) NC_000002.12:219146721:T: Analogous +NM_175875.5:c.182C>T NP_787071.3:p.Ala61Val NC_000019.10:45768662:G:A p.(Ala61Val) NC_000019.10:45768662:G:A p.(Ala61Val) NC_000019.10:45768662:G:A Identity +NM_001290307.3:c.749A>G NP_001277236.1:p.Gln250Arg NC_000005.10:138824689:A:G p.(Gln250Arg) NC_000005.10:138824689:A:G p.(Gln250Arg) NC_000005.10:138824689:A:G Identity +NM_001372025.1:c.991_992del NP_001358954.1:p.Leu331fs NC_000010.11:99716474:AGAG:AG p.(Leu331PhefsTer26) NC_000010.11:99716474:AGAG:AG p.(Leu331PhefsTer26) NC_000010.11:99716474:AG: Analogous +NM_139057.4:c.1214C>T NP_620688.2:p.Ser405Phe NC_000015.10:100155287:G:A p.(Ser405Phe) NC_000015.10:100155287:G:A p.(Ser405Phe) NC_000015.10:100155287:G:A Identity +NM_001006600.3:c.3370C>A NP_001006600.1:p.Gln1124Lys NC_000005.10:66054687:C:A p.(Gln1124Lys) NC_000005.10:66054687:C:A p.(Gln1124Lys) NC_000005.10:66054687:C:A Identity +NM_033343.4:c.433G>A NP_203129.1:p.Glu145Lys NC_000001.11:180266575:G:A p.(Glu145Lys) NC_000001.11:180266575:G:A p.(Glu145Lys) NC_000001.11:180266575:G:A Identity +NM_000101.4:c.467del NP_000092.2:p.Pro156fs NC_000016.10:88643473:GGGGGG:GGGGG p.(Pro156ArgfsTer35) NC_000016.10:88643473:GGGGGG:GGGGG p.(Pro156ArgfsTer35) NC_000016.10:88643473:G: Analogous +NM_001363711.2:c.1904A>G NP_001350640.1:p.Lys635Arg NC_000015.10:45106568:T:C p.(Lys635Arg) NC_000015.10:45106568:T:C p.(Lys635Arg) NC_000015.10:45106568:T:C Identity +NM_000541.5:c.232G>T NP_000532.2:p.Val78Leu NC_000002.12:233320679:G:T p.(Val78Leu) NC_000002.12:233320679:G:T p.(Val78Leu) NC_000002.12:233320679:G:T Identity +NM_000540.3:c.12139C>T NP_000531.2:p.Leu4047Phe NC_000019.10:38548276:C:T p.(Leu4047Phe) NC_000019.10:38548276:C:T p.(Leu4047Phe) NC_000019.10:38548276:C:T Identity +NM_001410842.1:c.641G>T NP_001397771.1:p.Cys214Phe NC_000004.12:139344288:G:T p.(Cys214Phe) NC_000004.12:139344288:G:T p.(Cys214Phe) NC_000004.12:139344288:G:T Identity +NM_001018111.3:c.991C>T NP_001018121.1:p.Pro331Ser NC_000007.14:131509396:G:A p.(Pro331Ser) NC_000007.14:131509396:G:A p.(Pro331Ser) NC_000007.14:131509396:G:A Identity +NM_001447.3:c.6969G>T NP_001438.1:p.Gln2323His NC_000005.10:151544157:C:A p.(Gln2323His) NC_000005.10:151544157:C:A p.(Gln2323His) NC_000005.10:151544157:C:A Identity +NM_000065.5:c.1589del NP_000056.2:p.Gly530fs NC_000005.10:41160236:CC:C p.(Gly530AlafsTer35) NC_000005.10:41160236:CC:C p.(Gly530AlafsTer35) NC_000005.10:41160236:C: Analogous +NM_001410875.1:c.1052C>T NP_001397804.1:p.Ala351Val NC_000006.12:33304454:G:A p.(Ala351Val) NC_000006.12:33304454:G:A p.(Ala351Val) NC_000006.12:33304454:G:A Identity +NM_000135.4:c.2707dup NP_000126.2:p.Trp903fs NC_000016.10:89764960:A:AA p.(Trp903LeufsTer40) NC_000016.10:89764960:A:AA p.(Trp903LeufsTer40) ERR:SPDI Analogous +NM_005461.5:c.19A>G NP_005452.2:p.Met7Val NC_000020.11:40688831:T:C p.(Met7Val) NC_000020.11:40688831:T:C p.(Met7Val) NC_000020.11:40688831:T:C Identity +NM_175875.5:c.1943C>G NP_787071.3:p.Pro648Arg NC_000019.10:45765777:G:C p.(Pro648Arg) NC_000019.10:45765777:G:C p.(Pro648Arg) NC_000019.10:45765777:G:C Identity +NM_001010895.4:c.168T>G NP_001010895.2:p.Tyr56Ter NC_000009.12:95880989:T:G p.(Tyr56Ter) NC_000009.12:95880989:T:G p.(Tyr56Ter) NC_000009.12:95880989:T:G Identity +NM_001367624.2:c.7678G>A NP_001354553.1:p.Glu2560Lys NC_000016.10:88435147:G:A p.(Glu2560Lys) NC_000016.10:88435147:G:A p.(Glu2560Lys) NC_000016.10:88435147:G:A Identity +NM_001102406.2:c.3025C>T NP_001095876.1:p.Arg1009Ter NC_000004.12:112432571:C:T p.(Arg1009Ter) NC_000004.12:112432571:C:T p.(Arg1009Ter) NC_000004.12:112432571:C:T Identity +NM_021116.4:c.3251G>A NP_066939.1:p.Gly1084Asp NC_000007.14:45713885:G:A p.(Gly1084Asp) NC_000007.14:45713885:G:A p.(Gly1084Asp) NC_000007.14:45713885:G:A Identity +NM_006015.6:c.3768G>A NP_006006.3:p.Met1256Ile NC_000001.11:26773397:G:A p.(Met1256Ile) NC_000001.11:26773397:G:A p.(Met1256Ile) NC_000001.11:26773397:G:A Identity +NM_001288951.2:c.1656G>C NP_001275880.1:p.Met552Ile NC_000002.12:47029237:G:C p.(Met552Ile) NC_000002.12:47029237:G:C p.(Met552Ile) NC_000002.12:47029237:G:C Identity +NM_001145860.2:c.2167G>T NP_001139332.1:p.Glu723Ter NC_000008.11:98156158:G:T p.(Glu723Ter) NC_000008.11:98156158:G:T p.(Glu723Ter) NC_000008.11:98156158:G:T Identity +NM_001317939.2:c.1409G>A NP_001304868.1:p.Arg470Gln NC_000009.12:16436658:C:T p.(Arg470Gln) NC_000009.12:16436658:C:T p.(Arg470Gln) NC_000009.12:16436658:C:T Identity +NM_001159291.2:c.1819G>A NP_001152763.1:p.Ala607Thr NC_000006.12:109447222:C:T p.(Ala607Thr) NC_000006.12:109447222:C:T p.(Ala607Thr) NC_000006.12:109447222:C:T Identity +NM_018180.3:c.889A>C NP_060650.2:p.Asn297His NC_000010.11:125854163:T:G p.(Asn297His) NC_000010.11:125854163:T:G p.(Asn297His) NC_000010.11:125854163:T:G Identity +NM_001301738.2:c.620G>A NP_001288667.1:p.Gly207Glu NC_000005.10:139478408:C:T p.(Gly207Glu) NC_000005.10:139478408:C:T p.(Gly207Glu) NC_000005.10:139478408:C:T Identity +NM_003265.3:c.2110C>T NP_003256.1:p.Leu704Phe NC_000004.12:186083795:C:T p.(Leu704Phe) NC_000004.12:186083795:C:T p.(Leu704Phe) NC_000004.12:186083795:C:T Identity +NM_003737.4:c.5507G>T NP_003728.1:p.Ser1836Ile NC_000011.10:6627531:C:A p.(Ser1836Ile) NC_000011.10:6627531:C:A p.(Ser1836Ile) NC_000011.10:6627531:C:A Identity +NM_001164665.2:c.4778C>T NP_001158137.1:p.Ser1593Leu NC_000007.14:138868125:G:A p.(Ser1593Leu) NC_000007.14:138868125:G:A p.(Ser1593Leu) NC_000007.14:138868125:G:A Identity +NM_020461.4:c.4852G>T NP_065194.3:p.Glu1618Ter NC_000022.11:50218589:C:A p.(Glu1618Ter) NC_000022.11:50218589:C:A p.(Glu1618Ter) NC_000022.11:50218589:C:A Identity +NM_000130.5:c.2946G>A NP_000121.2:p.Trp982Ter NC_000001.11:169542143:C:T p.(Trp982Ter) NC_000001.11:169542143:C:T p.(Trp982Ter) NC_000001.11:169542143:C:T Identity +NM_001943.5:c.3136G>A NP_001934.2:p.Val1046Met NC_000018.10:31546521:G:A p.(Val1046Met) NC_000018.10:31546521:G:A p.(Val1046Met) NC_000018.10:31546521:G:A Identity +NM_033131.4:c.492G>A NP_149122.1:p.Met164Ile NC_000001.11:228050833:G:A p.(Met164Ile) NC_000001.11:228050833:G:A p.(Met164Ile) NC_000001.11:228050833:G:A Identity +NM_000116.5:c.725C>T NP_000107.1:p.Pro242Leu NC_000023.11:154420682:C:T p.(Pro242Leu) NC_000023.11:154420682:C:T p.(Pro242Leu) NC_000023.11:154420682:C:T Identity +NM_001277126.2:c.739C>T NP_001264055.1:p.Leu247Phe NC_000019.10:53810919:G:A p.(Leu247Phe) NC_000019.10:53810919:G:A p.(Leu247Phe) NC_000019.10:53810919:G:A Identity +NM_001258206.2:c.1825C>A NP_001245135.1:p.Pro609Thr NC_000019.10:6836478:C:A p.(Pro609Thr) NC_000019.10:6836478:C:A p.(Pro609Thr) NC_000019.10:6836478:C:A Identity +NM_001271052.1:c.1385G>C NP_001257981.1:p.Ser462Thr NC_000019.10:14755684:C:G p.(Ser462Thr) NC_000019.10:14755684:C:G p.(Ser462Thr) NC_000019.10:14755684:C:G Identity +NM_001282538.2:c.670G>A NP_001269467.1:p.Gly224Ser NC_000001.11:1787383:C:T p.(Gly224Ser) NC_000001.11:1787383:C:T p.(Gly224Ser) NC_000001.11:1787383:C:T Identity +NM_001354689.3:c.131A>C NP_001341618.1:p.Asp44Ala NC_000003.12:12618590:T:G p.(Asp44Ala) NC_000003.12:12618590:T:G p.(Asp44Ala) NC_000003.12:12618590:T:G Identity +NM_003924.4:c.938T>C NP_003915.2:p.Met313Thr NC_000004.12:41745813:A:G p.(Met313Thr) NC_000004.12:41745813:A:G p.(Met313Thr) NC_000004.12:41745813:A:G Identity +NM_001363711.2:c.488G>A NP_001350640.1:p.Arg163Gln NC_000015.10:45111792:C:T p.(Arg163Gln) NC_000015.10:45111792:C:T p.(Arg163Gln) NC_000015.10:45111792:C:T Identity +NM_001282538.2:c.643G>A NP_001269467.1:p.Val215Ile NC_000001.11:1787410:C:T p.(Val215Ile) NC_000001.11:1787410:C:T p.(Val215Ile) NC_000001.11:1787410:C:T Identity +NM_015073.3:c.2255G>A NP_055888.1:p.Arg752Gln NC_000019.10:38110347:G:A p.(Arg752Gln) NC_000019.10:38110347:G:A p.(Arg752Gln) NC_000019.10:38110347:G:A Identity +NM_017999.5:c.52G>A NP_060469.4:p.Ala18Thr NC_000014.9:24147749:G:A p.(Ala18Thr) NC_000014.9:24147749:G:A p.(Ala18Thr) NC_000014.9:24147749:G:A Identity +NM_001171087.3:c.937G>A NP_001164558.1:p.Asp313Asn NC_000003.12:184357227:C:T p.(Asp313Asn) NC_000003.12:184357227:C:T p.(Asp313Asn) NC_000003.12:184357227:C:T Identity +NM_021629.4:c.847C>T NP_067642.1:p.Arg283Cys NC_000003.12:179405258:G:A p.(Arg283Cys) NC_000003.12:179405258:G:A p.(Arg283Cys) NC_000003.12:179405258:G:A Identity +NM_001083926.2:c.50A>G NP_001077395.1:p.Lys17Arg NC_000011.10:62338026:A:G p.(Lys17Arg) NC_000011.10:62338026:A:G p.(Lys17Arg) NC_000011.10:62338026:A:G Identity +NM_000153.4:c.166G>C NP_000144.2:p.Asp56His NC_000014.9:87992998:C:G p.(Asp56His) NC_000014.9:87992998:C:G p.(Asp56His) NC_000014.9:87992998:C:G Identity +NM_001164317.2:c.3466G>A NP_001157789.1:p.Val1156Ile NC_000003.12:58123431:G:A p.(Val1156Ile) NC_000003.12:58123431:G:A p.(Val1156Ile) NC_000003.12:58123431:G:A Identity +NM_001301012.2:c.1122G>C NP_001287941.1:p.Glu374Asp NC_000006.12:133512722:G:C p.(Glu374Asp) NC_000006.12:133512722:G:C p.(Glu374Asp) NC_000006.12:133512722:G:C Identity +NM_001077350.3:c.494G>A NP_001070818.1:p.Arg165Gln NC_000016.10:112674:C:T p.(Arg165Gln) NC_000016.10:112674:C:T p.(Arg165Gln) NC_000016.10:112674:C:T Identity +NM_014049.5:c.5G>T NP_054768.2:p.Ser2Ile NC_000003.12:128879695:G:T p.(Ser2Ile) NC_000003.12:128879695:G:T p.(Ser2Ile) NC_000003.12:128879695:G:T Identity +NM_001424109.1:c.218G>A NP_001411038.1:p.Arg73His NC_000006.12:33184199:C:T p.(Arg73His) NC_000006.12:33184199:C:T p.(Arg73His) NC_000006.12:33184199:C:T Identity +NM_001278192.2:c.1882C>T NP_001265121.1:p.Arg628Trp NC_000011.10:62628790:G:A p.(Arg628Trp) NC_000011.10:62628790:G:A p.(Arg628Trp) NC_000011.10:62628790:G:A Identity +NM_002470.4:c.3968A>C NP_002461.2:p.Glu1323Ala NC_000017.11:10635741:T:G p.(Glu1323Ala) NC_000017.11:10635741:T:G p.(Glu1323Ala) NC_000017.11:10635741:T:G Identity +NM_001377456.1:c.1148_1149dup NP_001364385.1:p.His384fs NC_000016.10:56501428:GAG:GAGAG p.(His384SerfsTer34) NC_000016.10:56501428:GAG:GAGAG p.(His384SerfsTer34) ERR:SPDI Analogous +NM_002335.4:c.1130C>T NP_002326.2:p.Ala377Val NC_000011.10:68386429:C:T p.(Ala377Val) NC_000011.10:68386429:C:T p.(Ala377Val) NC_000011.10:68386429:C:T Identity +NM_006231.4:c.2414A>T NP_006222.2:p.Gln805Leu NC_000012.12:132665355:T:A p.(Gln805Leu) NC_000012.12:132665355:T:A p.(Gln805Leu) NC_000012.12:132665355:T:A Identity +NM_001304763.2:c.2620C>G NP_001291692.1:p.Leu874Val NC_000001.11:151289525:C:G p.(Leu874Val) NC_000001.11:151289525:C:G p.(Leu874Val) NC_000001.11:151289525:C:G Identity +NM_001024218.2:c.1376C>A NP_001019389.1:p.Pro459His NC_000014.9:67113019:C:A p.(Pro459His) NC_000014.9:67113019:C:A p.(Pro459His) NC_000014.9:67113019:C:A Identity +NM_018706.7:c.2116C>T NP_061176.4:p.Pro706Ser NC_000010.11:12107976:C:T p.(Pro706Ser) NC_000010.11:12107976:C:T p.(Pro706Ser) NC_000010.11:12107976:C:T Identity +NM_001079855.2:c.161C>T NP_001073324.1:p.Ser54Leu NC_000023.11:2853990:C:T p.(Ser54Leu) NC_000023.11:2853990:C:T p.(Ser54Leu) NC_000023.11:2853990:C:T Identity +NM_001127208.3:c.1453G>T NP_001120680.1:p.Val485Leu NC_000004.12:105235394:G:T p.(Val485Leu) NC_000004.12:105235394:G:T p.(Val485Leu) NC_000004.12:105235394:G:T Identity +NM_000720.4:c.2974A>T NP_000711.1:p.Ile992Phe NC_000003.12:53743112:A:T p.(Ile992Phe) NC_000003.12:53743112:A:T p.(Ile992Phe) NC_000003.12:53743112:A:T Identity +NM_006660.5:c.46C>A NP_006651.2:p.Leu16Ile NC_000015.10:65185107:G:T p.(Leu16Ile) NC_000015.10:65185107:G:T p.(Leu16Ile) NC_000015.10:65185107:G:T Identity +NM_001363734.1:c.1793G>A NP_001350663.1:p.Gly598Asp NC_000020.11:32434687:G:A p.(Gly598Asp) NC_000020.11:32434687:G:A p.(Gly598Asp) NC_000020.11:32434687:G:A Identity +NM_000553.6:c.2521G>C NP_000544.2:p.Ala841Pro NC_000008.11:31120314:G:C p.(Ala841Pro) NC_000008.11:31120314:G:C p.(Ala841Pro) NC_000008.11:31120314:G:C Identity +NM_000217.3:c.436G>C NP_000208.2:p.Glu146Gln NC_000012.12:4911813:G:C p.(Glu146Gln) NC_000012.12:4911813:G:C p.(Glu146Gln) NC_000012.12:4911813:G:C Identity +NM_020778.5:c.186C>A NP_065829.4:p.Ser62Arg NC_000015.10:84827486:C:A p.(Ser62Arg) NC_000015.10:84827486:C:A p.(Ser62Arg) NC_000015.10:84827486:C:A Identity +NM_001178130.3:c.316T>C NP_001171601.1:p.Ser106Pro NC_000004.12:109941133:T:C p.(Ser106Pro) NC_000004.12:109941133:T:C p.(Ser106Pro) NC_000004.12:109941133:T:C Identity +NM_001199922.2:c.238G>A NP_001186851.1:p.Val80Ile NC_000011.10:124660689:C:T p.(Val80Ile) NC_000011.10:124660689:C:T p.(Val80Ile) NC_000011.10:124660689:C:T Identity +NM_152424.4:c.1339G>C NP_689637.3:p.Gly447Arg NC_000023.11:64191947:C:G p.(Gly447Arg) NC_000023.11:64191947:C:G p.(Gly447Arg) NC_000023.11:64191947:C:G Identity +NM_000875.5:c.1885G>A NP_000866.1:p.Val629Met NC_000015.10:98916019:G:A p.(Val629Met) NC_000015.10:98916019:G:A p.(Val629Met) NC_000015.10:98916019:G:A Identity +NM_001346813.1:c.1033G>A NP_001333742.1:p.Ala345Thr NC_000006.12:156778961:G:A ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_145038.5:c.1366C>A NP_659475.2:p.Gln456Lys NC_000002.12:26444917:C:A p.(Gln456Lys) NC_000002.12:26444917:C:A p.(Gln456Lys) NC_000002.12:26444917:C:A Identity +NM_001346897.2:c.1996G>C NP_001333826.1:p.Glu666Gln NC_000007.14:55173989:G:C p.(Glu666Gln) NC_000007.14:55173989:G:C p.(Glu666Gln) NC_000007.14:55173989:G:C Identity +NM_001167619.3:c.1261A>G NP_001161091.1:p.Thr421Ala NC_000003.12:37048603:A:G p.(Thr421Ala) NC_000003.12:37048603:A:G p.(Thr421Ala) NC_000003.12:37048603:A:G Identity +NM_001145468.4:c.3089A>T NP_001138940.4:p.Asn1030Ile NC_000022.11:24411588:A:T p.(Asn1030Ile) NC_000022.11:24411588:A:T p.(Asn1030Ile) NC_000022.11:24411588:A:T Identity +NM_020778.5:c.3577C>T NP_065829.4:p.Pro1193Ser NC_000015.10:84858314:C:T p.(Pro1193Ser) NC_000015.10:84858314:C:T p.(Pro1193Ser) NC_000015.10:84858314:C:T Identity +NM_001305878.2:c.2324G>A NP_001292807.1:p.Arg775His NC_000008.11:41942904:C:T p.(Arg775His) NC_000008.11:41942904:C:T p.(Arg775His) NC_000008.11:41942904:C:T Identity +NM_001077397.1:c.199C>T NP_001070865.1:p.Pro67Ser NC_000001.11:234609295:G:A p.(Pro67Ser) NC_000001.11:234609295:G:A p.(Pro67Ser) NC_000001.11:234609295:G:A Identity +NM_001256182.2:c.4858C>G NP_001243111.1:p.Leu1620Val NC_000016.10:89281683:G:C p.(Leu1620Val) NC_000016.10:89281683:G:C p.(Leu1620Val) NC_000016.10:89281683:G:C Identity +NM_001284301.3:c.3121G>C NP_001271230.1:p.Asp1041His NC_000007.14:36449817:G:C p.(Asp1041His) NC_000007.14:36449817:G:C p.(Asp1041His) NC_000007.14:36449817:G:C Identity +NM_001350630.2:c.1573T>C NP_001337559.1:p.Tyr525His NC_000001.11:223003698:T:C p.(Tyr525His) NC_000001.11:223003698:T:C p.(Tyr525His) NC_000001.11:223003698:T:C Identity +NM_017890.5:c.11571G>A NP_060360.3:p.Trp3857Ter NC_000008.11:99871447:G:A p.(Trp3857Ter) NC_000008.11:99871447:G:A p.(Trp3857Ter) NC_000008.11:99871447:G:A Identity +NM_003482.4:c.2125C>T NP_003473.3:p.Pro709Ser NC_000012.12:49051557:G:A p.(Pro709Ser) NC_000012.12:49051557:G:A p.(Pro709Ser) NC_000012.12:49051557:G:A Identity +NM_015932.6:c.94C>T NP_057016.1:p.Arg32Trp NC_000013.11:28662499:C:T p.(Arg32Trp) NC_000013.11:28662499:C:T p.(Arg32Trp) NC_000013.11:28662499:C:T Identity +NM_001385907.1:c.377A>G NP_001372836.1:p.Asp126Gly NC_000009.12:32493806:T:C p.(Asp126Gly) NC_000009.12:32493806:T:C p.(Asp126Gly) NC_000009.12:32493806:T:C Identity +NM_001277269.2:c.2875dup NP_001264198.1:p.Asp959fs NC_000011.10:17586549:GGGG:GGGGG p.(Asp959GlyfsTer40) NC_000011.10:17586549:GGGG:GGGGG p.(Asp959GlyfsTer40) ERR:SPDI Analogous +NM_182476.3:c.248dup NP_872282.1:p.Tyr83Ter NC_000014.9:73953518:A:AA p.(Tyr83Ter) NC_000014.9:73953518:A:AA p.(Tyr83Ter) ERR:SPDI Identity +NM_014727.3:c.7031C>T NP_055542.1:p.Ala2344Val NC_000019.10:35733667:C:T p.(Ala2344Val) NC_000019.10:35733667:C:T p.(Ala2344Val) NC_000019.10:35733667:C:T Identity +NM_001291902.2:c.1543G>A NP_001278831.1:p.Ala515Thr NC_000011.10:68425150:G:A p.(Ala515Thr) NC_000011.10:68425150:G:A p.(Ala515Thr) NC_000011.10:68425150:G:A Identity +NM_001193307.2:c.968T>C NP_001180236.1:p.Ile323Thr NC_000007.14:93105129:A:G p.(Ile323Thr) NC_000007.14:93105129:A:G p.(Ile323Thr) NC_000007.14:93105129:A:G Identity +NM_000755.5:c.1024G>A NP_000746.3:p.Glu342Lys NC_000009.12:129099926:C:T p.(Glu342Lys) NC_000009.12:129099926:C:T p.(Glu342Lys) NC_000009.12:129099926:C:T Identity +NM_001114331.3:c.1351G>A NP_001107803.1:p.Val451Met NC_000016.10:1451646:C:T p.(Val451Met) NC_000016.10:1451646:C:T p.(Val451Met) NC_000016.10:1451646:C:T Identity +NM_016562.4:c.569A>T NP_057646.1:p.Tyr190Phe NC_000023.11:12886076:A:T p.(Tyr190Phe) NC_000023.11:12886076:A:T p.(Tyr190Phe) NC_000023.11:12886076:A:T Identity +NM_001289396.2:c.4585G>C NP_001276325.1:p.Glu1529Gln NC_000009.12:2186218:G:C p.(Glu1529Gln) NC_000009.12:2186218:G:C p.(Glu1529Gln) NC_000009.12:2186218:G:C Identity +NM_001270507.2:c.1541G>A NP_001257436.1:p.Arg514Lys NC_000006.12:137878985:G:A p.(Arg514Lys) NC_000006.12:137878985:G:A p.(Arg514Lys) NC_000006.12:137878985:G:A Identity +NM_001145102.2:c.43G>T NP_001138574.1:p.Val15Phe NC_000015.10:67165045:G:T p.(Val15Phe) NC_000015.10:67165045:G:T p.(Val15Phe) NC_000015.10:67165045:G:T Identity +NM_001035.3:c.4430A>G NP_001026.2:p.His1477Arg NC_000001.11:237593629:A:G p.(His1477Arg) NC_000001.11:237593629:A:G p.(His1477Arg) NC_000001.11:237593629:A:G Identity +NM_006739.4:c.1894G>A NP_006730.2:p.Ala632Thr NC_000022.11:35421378:G:A p.(Ala632Thr) NC_000022.11:35421378:G:A p.(Ala632Thr) NC_000022.11:35421378:G:A Identity +NM_001256468.2:c.1147A>G NP_001243397.1:p.Thr383Ala NC_000010.11:74975483:A:G p.(Thr383Ala) NC_000010.11:74975483:A:G p.(Thr383Ala) NC_000010.11:74975483:A:G Identity +NM_001145853.1:c.882C>A NP_001139325.1:p.His294Gln NC_000004.12:6300676:C:A p.(His294Gln) NC_000004.12:6300676:C:A p.(His294Gln) NC_000004.12:6300676:C:A Identity +NM_006208.3:c.331C>T NP_006199.2:p.Arg111Cys NC_000006.12:131850006:C:T p.(Arg111Cys) NC_000006.12:131850006:C:T p.(Arg111Cys) NC_000006.12:131850006:C:T Identity +NM_017752.3:c.2277A>T NP_060222.2:p.Glu759Asp NC_000023.11:106854220:A:T p.(Glu759Asp) NC_000023.11:106854220:A:T p.(Glu759Asp) NC_000023.11:106854220:A:T Identity +NM_001242881.2:c.119C>T NP_001229810.1:p.Ser40Leu NC_000013.11:110622233:C:T p.(Ser40Leu) NC_000013.11:110622233:C:T p.(Ser40Leu) NC_000013.11:110622233:C:T Identity +NM_001256182.2:c.2804C>T NP_001243111.1:p.Ser935Leu NC_000016.10:89283737:G:A p.(Ser935Leu) NC_000016.10:89283737:G:A p.(Ser935Leu) NC_000016.10:89283737:G:A Identity +NM_006950.3:c.952A>C NP_008881.2:p.Lys318Gln NC_000023.11:47576525:T:G p.(Lys318Gln) NC_000023.11:47576525:T:G p.(Lys318Gln) NC_000023.11:47576525:T:G Identity +NM_173546.3:c.436C>T NP_775817.1:p.Arg146Cys NC_000003.12:49174297:C:T p.(Arg146Cys) NC_000003.12:49174297:C:T p.(Arg146Cys) NC_000003.12:49174297:C:T Identity +NM_032119.4:c.8780T>C NP_115495.3:p.Val2927Ala NC_000005.10:90708864:T:C p.(Val2927Ala) NC_000005.10:90708864:T:C p.(Val2927Ala) NC_000005.10:90708864:T:C Identity +NM_000918.4:c.484A>G NP_000909.2:p.Lys162Glu NC_000017.11:81855454:T:C p.(Lys162Glu) NC_000017.11:81855454:T:C p.(Lys162Glu) NC_000017.11:81855454:T:C Identity +NM_003126.4:c.4076_4077del NP_003117.2:p.Gly1359fs NC_000001.11:158645304:CCC:C p.(Gly1359AlafsTer4) NC_000001.11:158645304:CCC:C p.(Gly1359AlafsTer4) NC_000001.11:158645304:CC: Analogous +NM_001308176.2:c.487C>T NP_001295105.1:p.Arg163Trp NC_000018.10:28009838:G:A p.(Arg163Trp) NC_000018.10:28009838:G:A p.(Arg163Trp) NC_000018.10:28009838:G:A Identity +NM_001304763.2:c.2042A>G NP_001291692.1:p.Gln681Arg NC_000001.11:151288332:A:G p.(Gln681Arg) NC_000001.11:151288332:A:G p.(Gln681Arg) NC_000001.11:151288332:A:G Identity +NM_001160130.2:c.2077T>G NP_001153602.1:p.Phe693Val NC_000006.12:73194718:T:G p.(Phe693Val) NC_000006.12:73194718:T:G p.(Phe693Val) NC_000006.12:73194718:T:G Identity +NM_001042410.2:c.1154_1156delinsTAC NP_001035869.1:p.Cys385Leu NC_000002.12:219234237:GCA:TAC p.(Cys385Leu) NC_000002.12:219234237:GCA:TAC p.(Cys385Leu) NC_000002.12:219234237:GCA:TAC Identity +NM_001396000.1:c.44G>A NP_001382929.1:p.Arg15Gln NC_000019.10:41888210:G:A p.(Arg15Gln) NC_000019.10:41888210:G:A p.(Arg15Gln) NC_000019.10:41888210:G:A Identity +NM_001024688.3:c.1728A>T NP_001019859.1:p.Glu576Asp NC_000008.11:89946235:T:A p.(Glu576Asp) NC_000008.11:89946235:T:A p.(Glu576Asp) NC_000008.11:89946235:T:A Identity +NM_001348729.2:c.4272del NP_001335658.1:p.Gly1426fs NC_000002.12:8731766:T: p.(Gly1426AlafsTer7) NC_000002.12:8731766:T: p.(Gly1426AlafsTer7) NC_000002.12:8731766:T: Analogous +NM_000755.5:c.1714G>A NP_000746.3:p.Asp572Asn NC_000009.12:129095563:C:T p.(Asp572Asn) NC_000009.12:129095563:C:T p.(Asp572Asn) NC_000009.12:129095563:C:T Identity +NM_030787.4:c.74T>A NP_110414.1:p.Phe25Tyr NC_000001.11:196982899:T:A p.(Phe25Tyr) NC_000001.11:196982899:T:A p.(Phe25Tyr) NC_000001.11:196982899:T:A Identity +NM_006766.5:c.3985A>G NP_006757.2:p.Lys1329Glu NC_000008.11:41934234:T:C p.(Lys1329Glu) NC_000008.11:41934234:T:C p.(Lys1329Glu) NC_000008.11:41934234:T:C Identity +NM_001166108.2:c.2747A>G NP_001159580.1:p.Asp916Gly NC_000004.12:168915923:A:G p.(Asp916Gly) NC_000004.12:168915923:A:G p.(Asp916Gly) NC_000004.12:168915923:A:G Identity +NM_001447.3:c.9806G>T NP_001438.1:p.Arg3269Leu NC_000005.10:151531591:C:A p.(Arg3269Leu) NC_000005.10:151531591:C:A p.(Arg3269Leu) NC_000005.10:151531591:C:A Identity +NM_000720.4:c.2803C>G NP_000711.1:p.Arg935Gly NC_000003.12:53735494:C:G p.(Arg935Gly) NC_000003.12:53735494:C:G p.(Arg935Gly) NC_000003.12:53735494:C:G Identity +NM_001382395.1:c.54G>C NP_001369324.1:p.Lys18Asn NC_000002.12:39120368:C:G p.(Lys18Asn) NC_000002.12:39120368:C:G p.(Lys18Asn) NC_000002.12:39120368:C:G Identity +NM_001035.3:c.9458C>T NP_001026.2:p.Ser3153Phe NC_000001.11:237705220:C:T p.(Ser3153Phe) NC_000001.11:237705220:C:T p.(Ser3153Phe) NC_000001.11:237705220:C:T Identity +NM_001145412.3:c.791A>T NP_001138884.1:p.Asp264Val NC_000002.12:177231763:T:A p.(Asp264Val) NC_000002.12:177231763:T:A p.(Asp264Val) NC_000002.12:177231763:T:A Identity +NM_001145102.2:c.283A>G NP_001138574.1:p.Met95Val NC_000015.10:67166843:A:G p.(Met95Val) NC_000015.10:67166843:A:G p.(Met95Val) NC_000015.10:67166843:A:G Identity +NM_001164507.2:c.8068T>C NP_001157979.2:p.Tyr2690His NC_000002.12:151643241:A:G p.(Tyr2690His) NC_000002.12:151643241:A:G p.(Tyr2690His) NC_000002.12:151643241:A:G Identity +NM_001287489.2:c.2711G>A NP_001274418.1:p.Trp904Ter NC_000002.12:26476282:C:T p.(Trp904Ter) NC_000002.12:26476282:C:T p.(Trp904Ter) NC_000002.12:26476282:C:T Identity +NM_001374321.1:c.1565A>C NP_001361250.1:p.Lys522Thr NC_000008.11:100220307:A:C p.(Lys522Thr) NC_000008.11:100220307:A:C p.(Lys522Thr) NC_000008.11:100220307:A:C Identity +NM_001363734.1:c.3809C>G NP_001350663.1:p.Pro1270Arg NC_000020.11:32436703:C:G p.(Pro1270Arg) NC_000020.11:32436703:C:G p.(Pro1270Arg) NC_000020.11:32436703:C:G Identity +NM_016350.5:c.1082C>T NP_057434.4:p.Ala361Val NC_000014.9:50771367:G:A p.(Ala361Val) NC_000014.9:50771367:G:A p.(Ala361Val) NC_000014.9:50771367:G:A Identity +NM_000350.3:c.184C>G NP_000341.2:p.Pro62Ala NC_000001.11:94111555:G:C p.(Pro62Ala) NC_000001.11:94111555:G:C p.(Pro62Ala) NC_000001.11:94111555:G:C Identity +NM_001164342.2:c.98T>C NP_001157814.1:p.Leu33Pro NC_000003.12:114380317:A:G p.(Leu33Pro) NC_000003.12:114380317:A:G p.(Leu33Pro) NC_000003.12:114380317:A:G Identity +NM_001039490.2:c.289CTC[1] NP_001034579.1:p.Leu98del NC_000011.10:836780:CTCCTC:CTC p.(Leu98del) NC_000011.10:836780:C:CTC ERR:Parse ERR:Parse Identity +NM_001318360.2:c.2315dup NP_001305289.1:p.Asp772fs NC_000009.12:108896574:T:TT p.(Asp772GlufsTer3) NC_000009.12:108896574:T:TT p.(Asp772GlufsTer3) ERR:SPDI Analogous +NM_001410842.1:c.1390A>T NP_001397771.1:p.Met464Leu NC_000004.12:139359874:A:T p.(Met464Leu) NC_000004.12:139359874:A:T p.(Met464Leu) NC_000004.12:139359874:A:T Identity +NM_015693.4:c.1483G>A NP_056508.2:p.Ala495Thr NC_000004.12:127700042:G:A p.(Ala495Thr) NC_000004.12:127700042:G:A p.(Ala495Thr) NC_000004.12:127700042:G:A Identity +NM_001130455.2:c.2881C>T NP_001123927.1:p.Leu961Phe NC_000002.12:71569886:C:T p.(Leu961Phe) NC_000002.12:71569886:C:T p.(Leu961Phe) NC_000002.12:71569886:C:T Identity +NM_001146158.2:c.1103G>A NP_001139630.1:p.Trp368Ter NC_000002.12:74462367:C:T p.(Trp368Ter) NC_000002.12:74462367:C:T p.(Trp368Ter) NC_000002.12:74462367:C:T Identity +NM_001301738.2:c.280C>T NP_001288667.1:p.Arg94Cys NC_000005.10:139481289:G:A p.(Arg94Cys) NC_000005.10:139481289:G:A p.(Arg94Cys) NC_000005.10:139481289:G:A Identity +NM_001042544.1:c.2671C>T NP_001036009.1:p.His891Tyr NC_000019.10:40613441:C:T p.(His891Tyr) NC_000019.10:40613441:C:T p.(His891Tyr) NC_000019.10:40613441:C:T Identity +NM_001142800.2:c.8477dup NP_001136272.1:p.Ser2827fs NC_000006.12:63721553:A:AA p.(Ser2827IlefsTer14) NC_000006.12:63721553:A:AA p.(Ser2827IlefsTer14) ERR:SPDI Analogous +NM_000051.4:c.3397G>T NP_000042.3:p.Glu1133Ter NC_000011.10:108279602:G:T p.(Glu1133Ter) NC_000011.10:108279602:G:T p.(Glu1133Ter) NC_000011.10:108279602:G:T Identity +NM_030665.4:c.3749A>G NP_109590.3:p.Asn1250Ser NC_000017.11:17796696:A:G p.(Asn1250Ser) NC_000017.11:17796696:A:G p.(Asn1250Ser) NC_000017.11:17796696:A:G Identity +NM_005618.4:c.1132G>A NP_005609.3:p.Gly378Arg NC_000006.12:170285035:C:T p.(Gly378Arg) NC_000006.12:170285035:C:T p.(Gly378Arg) NC_000006.12:170285035:C:T Identity +NM_001277126.2:c.1929del NP_001264055.1:p.Lys644fs NC_000019.10:53809729:GG:G p.(Lys644ArgfsTer11) NC_000019.10:53809729:GG:G p.(Lys644ArgfsTer11) NC_000019.10:53809729:G: Analogous +NM_002858.4:c.1252A>G NP_002849.1:p.Ile418Val NC_000001.11:94489904:A:G p.(Ile418Val) NC_000001.11:94489904:A:G p.(Ile418Val) NC_000001.11:94489904:A:G Identity +NM_001159291.2:c.1650T>A NP_001152763.1:p.Ser550Arg NC_000006.12:109447910:A:T p.(Ser550Arg) NC_000006.12:109447910:A:T p.(Ser550Arg) NC_000006.12:109447910:A:T Identity +NM_017780.4:c.2908G>T NP_060250.2:p.Glu970Ter NC_000008.11:60822095:G:T p.(Glu970Ter) NC_000008.11:60822095:G:T p.(Glu970Ter) NC_000008.11:60822095:G:T Identity +NM_000020.3:c.100T>A NP_000011.2:p.Cys34Ser NC_000012.12:51913136:T:A p.(Cys34Ser) NC_000012.12:51913136:T:A p.(Cys34Ser) NC_000012.12:51913136:T:A Identity +NM_013447.4:c.1432C>G NP_038475.2:p.Gln478Glu NC_000019.10:14755111:G:C p.(Gln478Glu) NC_000019.10:14755111:G:C p.(Gln478Glu) NC_000019.10:14755111:G:C Identity +NM_001277115.2:c.13177A>G NP_001264044.1:p.Met4393Val NC_000007.14:21899993:A:G p.(Met4393Val) NC_000007.14:21899993:A:G p.(Met4393Val) NC_000007.14:21899993:A:G Identity +NM_001080463.2:c.1231C>T NP_001073932.1:p.Gln411Ter NC_000011.10:103120784:C:T p.(Gln411Ter) NC_000011.10:103120784:C:T p.(Gln411Ter) NC_000011.10:103120784:C:T Identity +NM_000395.3:c.889C>T NP_000386.1:p.Leu297Phe NC_000022.11:36930706:C:T p.(Leu297Phe) NC_000022.11:36930706:C:T p.(Leu297Phe) NC_000022.11:36930706:C:T Identity +NM_001243564.2:c.654C>A NP_001230493.1:p.Ser218Arg NC_000001.11:26460134:C:A p.(Ser218Arg) NC_000001.11:26460134:C:A p.(Ser218Arg) NC_000001.11:26460134:C:A Identity +NM_001845.6:c.2584C>G NP_001836.3:p.Leu862Val NC_000013.11:110178105:G:C p.(Leu862Val) NC_000013.11:110178105:G:C p.(Leu862Val) NC_000013.11:110178105:G:C Identity +NM_001168407.2:c.1802T>C NP_001161879.1:p.Ile601Thr NC_000006.12:72292037:T:C p.(Ile601Thr) NC_000006.12:72292037:T:C p.(Ile601Thr) NC_000006.12:72292037:T:C Identity +NM_001160130.2:c.1733G>A NP_001153602.1:p.Arg578Gln NC_000006.12:73192614:G:A p.(Arg578Gln) NC_000006.12:73192614:G:A p.(Arg578Gln) NC_000006.12:73192614:G:A Identity +NM_001111125.3:c.1937G>A NP_001104595.1:p.Arg646His NC_000023.11:53250638:C:T p.(Arg646His) NC_000023.11:53250638:C:T p.(Arg646His) NC_000023.11:53250638:C:T Identity +NM_025219.3:c.479A>G NP_079495.1:p.Gln160Arg NC_000020.11:63931007:A:G p.(Gln160Arg) NC_000020.11:63931007:A:G p.(Gln160Arg) NC_000020.11:63931007:A:G Identity +NM_001413017.1:c.655C>G NP_001399946.1:p.Leu219Val NC_000008.11:144516463:G:C p.(Leu219Val) NC_000008.11:144516463:G:C p.(Leu219Val) NC_000008.11:144516463:G:C Identity +NM_001447.3:c.3140C>T NP_001438.1:p.Ser1047Leu NC_000005.10:151565791:G:A p.(Ser1047Leu) NC_000005.10:151565791:G:A p.(Ser1047Leu) NC_000005.10:151565791:G:A Identity +NM_001102406.2:c.3125A>G NP_001095876.1:p.Lys1042Arg NC_000004.12:112435237:A:G p.(Lys1042Arg) NC_000004.12:112435237:A:G p.(Lys1042Arg) NC_000004.12:112435237:A:G Identity +NM_001271.4:c.5332C>T NP_001262.3:p.Pro1778Ser NC_000015.10:93024549:C:T p.(Pro1778Ser) NC_000015.10:93024549:C:T p.(Pro1778Ser) NC_000015.10:93024549:C:T Identity +NM_001346897.2:c.2683A>G NP_001333826.1:p.Thr895Ala NC_000007.14:55198832:A:G p.(Thr895Ala) NC_000007.14:55198832:A:G p.(Thr895Ala) NC_000007.14:55198832:A:G Identity +NM_001846.4:c.2798T>C NP_001837.2:p.Met933Thr NC_000013.11:110482554:T:C p.(Met933Thr) NC_000013.11:110482554:T:C p.(Met933Thr) NC_000013.11:110482554:T:C Identity +NM_001350888.2:c.917G>C NP_001337817.1:p.Arg306Thr NC_000014.9:96449847:G:C p.(Arg306Thr) NC_000014.9:96449847:G:C p.(Arg306Thr) NC_000014.9:96449847:G:C Identity +NM_001346850.2:c.370C>T NP_001333779.1:p.Pro124Ser NC_000012.12:7065969:C:T p.(Pro124Ser) NC_000012.12:7065969:C:T p.(Pro124Ser) NC_000012.12:7065969:C:T Identity +NM_001164317.2:c.3571G>A NP_001157789.1:p.Ala1191Thr NC_000003.12:58123536:G:A p.(Ala1191Thr) NC_000003.12:58123536:G:A p.(Ala1191Thr) NC_000003.12:58123536:G:A Identity +NM_002470.4:c.2689G>A NP_002461.2:p.Glu897Lys NC_000017.11:10639795:C:T p.(Glu897Lys) NC_000017.11:10639795:C:T p.(Glu897Lys) NC_000017.11:10639795:C:T Identity +NM_199242.3:c.1721C>G NP_954712.1:p.Ser574Ter NC_000017.11:75835652:G:C p.(Ser574Ter) NC_000017.11:75835652:G:C p.(Ser574Ter) NC_000017.11:75835652:G:C Identity +NM_000493.4:c.182C>T NP_000484.2:p.Thr61Ile NC_000006.12:116121933:G:A p.(Thr61Ile) NC_000006.12:116121933:G:A p.(Thr61Ile) NC_000006.12:116121933:G:A Identity +NM_001244580.2:c.5233A>G NP_001231509.1:p.Ser1745Gly NC_000007.14:98950181:A:G p.(Ser1745Gly) NC_000007.14:98950181:A:G p.(Ser1745Gly) NC_000007.14:98950181:A:G Identity +NM_001104577.2:c.56T>C NP_001098047.1:p.Phe19Ser NC_000017.11:5034550:A:G p.(Phe19Ser) NC_000017.11:5034550:A:G p.(Phe19Ser) NC_000017.11:5034550:A:G Identity +NM_001310332.2:c.815C>T NP_001297261.1:p.Ser272Leu NC_000014.9:24150667:C:T p.(Ser272Leu) NC_000014.9:24150667:C:T p.(Ser272Leu) NC_000014.9:24150667:C:T Identity +NM_001111097.3:c.823A>G NP_001104567.1:p.Thr275Ala NC_000008.11:55966809:A:G p.(Thr275Ala) NC_000008.11:55966809:A:G p.(Thr275Ala) NC_000008.11:55966809:A:G Identity +NM_000701.8:c.2989_2991del NP_000692.2:p.Leu997del NC_000001.11:116403920:CTC: p.(Leu997del) NC_000001.11:116403920:CTC: p.(Leu997del) NC_000001.11:116403920:CTC: Identity +NM_001197104.2:c.1507C>T NP_001184033.1:p.Arg503Trp NC_000011.10:118472665:C:T p.(Arg503Trp) NC_000011.10:118472665:C:T p.(Arg503Trp) NC_000011.10:118472665:C:T Identity +NM_001039348.3:c.1183T>C NP_001034437.1:p.Tyr395His NC_000002.12:55870856:A:G p.(Tyr395His) NC_000002.12:55870856:A:G p.(Tyr395His) NC_000002.12:55870856:A:G Identity +NM_000038.6:c.3673G>A NP_000029.2:p.Ala1225Thr NC_000005.10:112839266:G:A p.(Ala1225Thr) NC_000005.10:112839266:G:A p.(Ala1225Thr) NC_000005.10:112839266:G:A Identity +NM_000244.4:c.1369C>G NP_000235.3:p.Arg457Gly NC_000011.10:64804812:G:C p.(Arg457Gly) NC_000011.10:64804812:G:C p.(Arg457Gly) NC_000011.10:64804812:G:C Identity +NM_001291411.2:c.5908C>T NP_001278340.2:p.Arg1970Cys NC_000021.9:33555138:C:T p.(Arg1970Cys) NC_000021.9:33555138:C:T p.(Arg1970Cys) NC_000021.9:33555138:C:T Identity +NM_001165412.2:c.1882G>A NP_001158884.1:p.Asp628Asn NC_000004.12:102606627:G:A p.(Asp628Asn) NC_000004.12:102606627:G:A p.(Asp628Asn) NC_000004.12:102606627:G:A Identity +NM_001006600.3:c.25G>T NP_001006600.1:p.Val9Leu NC_000005.10:65992742:G:T p.(Val9Leu) NC_000005.10:65992742:G:T p.(Val9Leu) NC_000005.10:65992742:G:T Identity +NM_001271933.2:c.1790C>G NP_001258862.1:p.Ala597Gly NC_000011.10:117387258:C:G p.(Ala597Gly) NC_000011.10:117387258:C:G p.(Ala597Gly) NC_000011.10:117387258:C:G Identity +NM_000143.4:c.901A>T NP_000134.2:p.Thr301Ser NC_000001.11:241506005:T:A p.(Thr301Ser) NC_000001.11:241506005:T:A p.(Thr301Ser) NC_000001.11:241506005:T:A Identity +NM_001256071.3:c.10591G>A NP_001243000.2:p.Asp3531Asn NC_000017.11:80354030:G:A p.(Asp3531Asn) NC_000017.11:80354030:G:A p.(Asp3531Asn) NC_000017.11:80354030:G:A Identity +NM_000498.3:c.1210C>T NP_000489.3:p.Gln404Ter NC_000008.11:142912717:G:A p.(Gln404Ter) NC_000008.11:142912717:G:A p.(Gln404Ter) NC_000008.11:142912717:G:A Identity +NM_001142498.2:c.346A>G NP_001135970.1:p.Ile116Val NC_000010.11:67909315:A:G p.(Ile116Val) NC_000010.11:67909315:A:G p.(Ile116Val) NC_000010.11:67909315:A:G Identity +NM_001015051.4:c.210G>T NP_001015051.3:p.Gln70His NC_000006.12:45422743:G:T p.(Gln70His) NC_000006.12:45422743:G:T p.(Gln70His) NC_000006.12:45422743:G:T Identity +NM_001161357.2:c.937G>A NP_001154829.1:p.Asp313Asn NC_000019.10:17775071:G:A p.(Asp313Asn) NC_000019.10:17775071:G:A p.(Asp313Asn) NC_000019.10:17775071:G:A Identity +NM_001142800.2:c.6289G>C NP_001136272.1:p.Val2097Leu NC_000006.12:64230726:C:G p.(Val2097Leu) NC_000006.12:64230726:C:G p.(Val2097Leu) NC_000006.12:64230726:C:G Identity +NM_001042702.5:c.490C>T NP_001036167.1:p.Arg164Ter NC_000002.12:178456091:C:T p.(Arg164Ter) NC_000002.12:178456091:C:T p.(Arg164Ter) NC_000002.12:178456091:C:T Identity +NM_001114331.3:c.1765T>C NP_001107803.1:p.Phe589Leu NC_000016.10:1448726:A:G p.(Phe589Leu) NC_000016.10:1448726:A:G p.(Phe589Leu) NC_000016.10:1448726:A:G Identity +NM_001278055.2:c.8423C>A NP_001264984.1:p.Thr2808Asn NC_000013.11:23335011:G:T p.(Thr2808Asn) NC_000013.11:23335011:G:T p.(Thr2808Asn) NC_000013.11:23335011:G:T Identity +NM_001308133.2:c.5604A>G NP_001295062.1:p.Ile1868Met NC_000014.9:45196512:A:G p.(Ile1868Met) NC_000014.9:45196512:A:G p.(Ile1868Met) NC_000014.9:45196512:A:G Identity +NM_000264.5:c.2622G>T NP_000255.2:p.Lys874Asn NC_000009.12:95461936:C:A p.(Lys874Asn) NC_000009.12:95461936:C:A p.(Lys874Asn) NC_000009.12:95461936:C:A Identity +NM_000540.3:c.5222C>T NP_000531.2:p.Thr1741Ile NC_000019.10:38485876:C:T p.(Thr1741Ile) NC_000019.10:38485876:C:T p.(Thr1741Ile) NC_000019.10:38485876:C:T Identity +NM_006231.4:c.5502C>A NP_006222.2:p.Asp1834Glu NC_000012.12:132639174:G:T p.(Asp1834Glu) NC_000012.12:132639174:G:T p.(Asp1834Glu) NC_000012.12:132639174:G:T Identity +NM_001039375.3:c.749_750del NP_001034464.1:p.Thr250fs NC_000020.11:13816513:ACACA:ACA p.(Thr250AsnfsTer15) NC_000020.11:13816513:ACACA:ACA p.(Thr250AsnfsTer15) NC_000020.11:13816516:CA: Analogous +NM_001291411.2:c.1623G>C NP_001278340.2:p.Glu541Asp NC_000021.9:33550853:G:C p.(Glu541Asp) NC_000021.9:33550853:G:C p.(Glu541Asp) NC_000021.9:33550853:G:C Identity +NM_000720.4:c.5819G>C NP_000711.1:p.Arg1940Thr NC_000003.12:53808657:G:C p.(Arg1940Thr) NC_000003.12:53808657:G:C p.(Arg1940Thr) NC_000003.12:53808657:G:C Identity +NM_001363734.1:c.3332C>T NP_001350663.1:p.Ala1111Val NC_000020.11:32436226:C:T p.(Ala1111Val) NC_000020.11:32436226:C:T p.(Ala1111Val) NC_000020.11:32436226:C:T Identity +NM_000363.5:c.298C>G NP_000354.4:p.Leu100Val NC_000019.10:55154814:G:C p.(Leu100Val) NC_000019.10:55154814:G:C p.(Leu100Val) NC_000019.10:55154814:G:C Identity +NM_001142348.2:c.42G>T NP_001135820.1:p.Trp14Cys NC_000011.10:118152631:C:A p.(Trp14Cys) NC_000011.10:118152631:C:A p.(Trp14Cys) NC_000011.10:118152631:C:A Identity +NM_000093.5:c.3442C>T NP_000084.3:p.Pro1148Ser NC_000009.12:134809257:C:T p.(Pro1148Ser) NC_000009.12:134809257:C:T p.(Pro1148Ser) NC_000009.12:134809257:C:T Identity +NM_001282237.2:c.881C>T NP_001269166.1:p.Thr294Met NC_000014.9:99175951:G:A p.(Thr294Met) NC_000014.9:99175951:G:A p.(Thr294Met) NC_000014.9:99175951:G:A Identity +NM_001193306.2:c.139G>A NP_001180235.1:p.Val47Met NC_000019.10:51746855:C:T p.(Val47Met) NC_000019.10:51746855:C:T p.(Val47Met) NC_000019.10:51746855:C:T Identity +NM_001025295.3:c.310G>A NP_001020466.1:p.Val104Met NC_000011.10:298589:C:T p.(Val104Met) NC_000011.10:298589:C:T p.(Val104Met) NC_000011.10:298589:C:T Identity +NM_173076.3:c.919G>A NP_775099.2:p.Glu307Lys NC_000002.12:215037018:C:T p.(Glu307Lys) NC_000002.12:215037018:C:T p.(Glu307Lys) NC_000002.12:215037018:C:T Identity +NM_000075.4:c.799T>G NP_000066.1:p.Ser267Ala NC_000012.12:57749201:A:C p.(Ser267Ala) NC_000012.12:57749201:A:C p.(Ser267Ala) NC_000012.12:57749201:A:C Identity +NM_001322252.2:c.112C>T NP_001309181.1:p.Arg38Ter NC_000010.11:63465550:G:A p.(Arg38Ter) NC_000010.11:63465550:G:A p.(Arg38Ter) NC_000010.11:63465550:G:A Identity +NM_001005242.3:c.357T>G NP_001005242.2:p.Tyr119Ter NC_000012.12:32878522:A:C p.(Tyr119Ter) NC_000012.12:32878522:A:C p.(Tyr119Ter) NC_000012.12:32878522:A:C Identity +NM_000387.6:c.244del NP_000378.1:p.Val82fs NC_000003.12:48884078:CCCC:CCC p.(Val82SerfsTer47) NC_000003.12:48884078:CCCC:CCC p.(Val82SerfsTer47) NC_000003.12:48884078:C: Analogous +NM_001080467.3:c.1624C>T NP_001073936.1:p.Arg542Cys NC_000018.10:49954356:G:A p.(Arg542Cys) NC_000018.10:49954356:G:A p.(Arg542Cys) NC_000018.10:49954356:G:A Identity +NM_001330582.2:c.209_216dup NP_001317511.1:p.Asp73fs NC_000008.11:95045551:ATCTGGAT:ATCTGGATATCTGGAT p.(Asp73IlefsTer27) NC_000008.11:95045551:ATCTGGAT:ATCTGGATATCTGGAT p.(Asp73IlefsTer27) ERR:SPDI Analogous +LRG_292t1:c.1909A>T LRG_292p1:p.Thr637Ser NC_000017.11:43093621:T:A ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:Data provider error: ValueError: Transcript LRG_292t1 not found ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_292t1, alt_ac=LRG_292t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_292t1 not found +NM_001168249.1:c.2462G>A NP_001161721.1:p.Gly821Glu NC_000001.11:102970270:C:T ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001318785.2:c.263_264dup NP_001305714.1:p.Asp89fs NC_000006.12:87529630:AAAA:AAAAAA p.(Asp89LeufsTer18) NC_000006.12:87529630:AAAA:AAAAAA p.(Asp89LeufsTer18) ERR:SPDI Analogous +NM_003235.5:c.2149C>T NP_003226.4:p.Arg717Ter NC_000008.11:132887520:C:T p.(Arg717Ter) NC_000008.11:132887520:C:T p.(Arg717Ter) NC_000008.11:132887520:C:T Identity +NM_001104631.2:c.1795G>A NP_001098101.1:p.Val599Ile NC_000005.10:58976384:C:T p.(Val599Ile) NC_000005.10:58976384:C:T p.(Val599Ile) NC_000005.10:58976384:C:T Identity +NM_001136052.3:c.51C>A NP_001129524.1:p.Asp17Glu NC_000019.10:49692302:C:A p.(Asp17Glu) NC_000019.10:49692302:C:A p.(Asp17Glu) NC_000019.10:49692302:C:A Identity +NM_001244808.3:c.1081C>T NP_001231737.1:p.Arg361Cys NC_000003.12:70988058:G:A p.(Arg361Cys) NC_000003.12:70988058:G:A p.(Arg361Cys) NC_000003.12:70988058:G:A Identity +NM_004523.4:c.1592A>T NP_004514.2:p.Gln531Leu NC_000010.11:92632582:A:T p.(Gln531Leu) NC_000010.11:92632582:A:T p.(Gln531Leu) NC_000010.11:92632582:A:T Identity +NM_001410858.1:c.3325C>T NP_001397787.1:p.Gln1109Ter NC_000018.10:45916496:G:A p.(Gln1109Ter) NC_000018.10:45916496:G:A p.(Gln1109Ter) NC_000018.10:45916496:G:A Identity +NM_003482.4:c.9475A>T NP_003473.3:p.Ser3159Cys NC_000012.12:49037880:T:A p.(Ser3159Cys) NC_000012.12:49037880:T:A p.(Ser3159Cys) NC_000012.12:49037880:T:A Identity +NM_001145901.2:c.1157T>A NP_001139373.1:p.Leu386Ter NC_000019.10:38917732:A:T p.(Leu386Ter) NC_000019.10:38917732:A:T p.(Leu386Ter) NC_000019.10:38917732:A:T Identity +NM_001372.4:c.1467G>A NP_001363.2:p.Met489Ile NC_000017.11:11629532:G:A p.(Met489Ile) NC_000017.11:11629532:G:A p.(Met489Ile) NC_000017.11:11629532:G:A Identity +NM_001286613.2:c.1004C>T NP_001273542.1:p.Thr335Ile NC_000006.12:109450543:G:A p.(Thr335Ile) NC_000006.12:109450543:G:A p.(Thr335Ile) NC_000006.12:109450543:G:A Identity +NM_001157.3:c.1100C>T NP_001148.1:p.Ala367Val NC_000010.11:80162014:G:A p.(Ala367Val) NC_000010.11:80162014:G:A p.(Ala367Val) NC_000010.11:80162014:G:A Identity +NM_002133.3:c.227_228del NP_002124.1:p.Pro76fs NC_000022.11:35386766:CT: p.(Pro76ArgfsTer64) NC_000022.11:35386766:CT: p.(Pro76ArgfsTer64) NC_000022.11:35386766:CT: Analogous +NM_001845.6:c.2711A>G NP_001836.3:p.Glu904Gly NC_000013.11:110177846:T:C p.(Glu904Gly) NC_000013.11:110177846:T:C p.(Glu904Gly) NC_000013.11:110177846:T:C Identity +NM_001184900.3:c.273A>T NP_001171829.1:p.Glu91Asp NC_000019.10:48234479:T:A p.(Glu91Asp) NC_000019.10:48234479:T:A p.(Glu91Asp) NC_000019.10:48234479:T:A Identity +NM_031935.3:c.14236A>G NP_114141.2:p.Ser4746Gly NC_000001.11:186144672:A:G p.(Ser4746Gly) NC_000001.11:186144672:A:G p.(Ser4746Gly) NC_000001.11:186144672:A:G Identity +NM_001193414.2:c.1000G>A NP_001180343.1:p.Ala334Thr NC_000022.11:18130983:G:A p.(Ala334Thr) NC_000022.11:18130983:G:A p.(Ala334Thr) NC_000022.11:18130983:G:A Identity +NM_001105206.3:c.1852C>T NP_001098676.2:p.Gln618Ter NC_000006.12:112155671:G:A p.(Gln618Ter) NC_000006.12:112155671:G:A p.(Gln618Ter) NC_000006.12:112155671:G:A Identity +NM_001166496.2:c.718C>G NP_001159968.1:p.Gln240Glu NC_000001.11:112917687:G:C p.(Gln240Glu) NC_000001.11:112917687:G:C p.(Gln240Glu) NC_000001.11:112917687:G:C Identity +NM_001277115.2:c.4748A>G NP_001264044.1:p.Lys1583Arg NC_000007.14:21637632:A:G p.(Lys1583Arg) NC_000007.14:21637632:A:G p.(Lys1583Arg) NC_000007.14:21637632:A:G Identity +NM_002470.4:c.2377T>G NP_002461.2:p.Cys793Gly NC_000017.11:10640381:A:C p.(Cys793Gly) NC_000017.11:10640381:A:C p.(Cys793Gly) NC_000017.11:10640381:A:C Identity +NM_001278731.2:c.197A>G NP_001265660.1:p.Lys66Arg NC_000005.10:140694022:A:G p.(Lys66Arg) NC_000005.10:140694022:A:G p.(Lys66Arg) NC_000005.10:140694022:A:G Identity +NM_000553.6:c.249G>A NP_000544.2:p.Met83Ile NC_000008.11:31064327:G:A p.(Met83Ile) NC_000008.11:31064327:G:A p.(Met83Ile) NC_000008.11:31064327:G:A Identity +NM_000252.3:c.16A>G NP_000243.1:p.Thr6Ala NC_000023.11:150592629:A:G p.(Thr6Ala) NC_000023.11:150592629:A:G p.(Thr6Ala) NC_000023.11:150592629:A:G Identity +NM_000062.3:c.935C>A NP_000053.2:p.Pro312His NC_000011.10:57606452:C:A p.(Pro312His) NC_000011.10:57606452:C:A p.(Pro312His) NC_000011.10:57606452:C:A Identity +NM_021076.4:c.989C>T NP_066554.2:p.Thr330Ile NC_000022.11:29483479:C:T p.(Thr330Ile) NC_000022.11:29483479:C:T p.(Thr330Ile) NC_000022.11:29483479:C:T Identity +NM_001127208.3:c.951G>C NP_001120680.1:p.Gln317His NC_000004.12:105234892:G:C p.(Gln317His) NC_000004.12:105234892:G:C p.(Gln317His) NC_000004.12:105234892:G:C Identity +NM_001033053.3:c.3532G>A NP_001028225.1:p.Gly1178Arg NC_000017.11:5530480:C:T p.(Gly1178Arg) NC_000017.11:5530480:C:T p.(Gly1178Arg) NC_000017.11:5530480:C:T Identity +NM_001166598.2:c.563A>G NP_001160070.1:p.Lys188Arg NC_000011.10:116790665:T:C p.(Lys188Arg) NC_000011.10:116790665:T:C p.(Lys188Arg) NC_000011.10:116790665:T:C Identity +NM_001322033.2:c.1855A>G NP_001308962.1:p.Ile619Val NC_000019.10:38724318:A:G p.(Ile619Val) NC_000019.10:38724318:A:G p.(Ile619Val) NC_000019.10:38724318:A:G Identity +NM_014014.5:c.5551A>C NP_054733.2:p.Asn1851His NC_000002.12:96278295:T:G p.(Asn1851His) NC_000002.12:96278295:T:G p.(Asn1851His) NC_000002.12:96278295:T:G Identity +NM_025099.6:c.3266G>A NP_079375.3:p.Arg1089Lys NC_000017.11:8228847:C:T p.(Arg1089Lys) NC_000017.11:8228847:C:T p.(Arg1089Lys) NC_000017.11:8228847:C:T Identity +NM_024700.4:c.305A>G NP_078976.2:p.His102Arg NC_000001.11:37552666:T:C p.(His102Arg) NC_000001.11:37552666:T:C p.(His102Arg) NC_000001.11:37552666:T:C Identity +NM_019066.5:c.2968C>T NP_061939.3:p.Pro990Ser NC_000015.10:23644774:G:A p.(Pro990Ser) NC_000015.10:23644774:G:A p.(Pro990Ser) NC_000015.10:23644774:G:A Identity +NM_001376.5:c.13906T>C NP_001367.2:p.Tyr4636His NC_000014.9:102050527:T:C p.(Tyr4636His) NC_000014.9:102050527:T:C p.(Tyr4636His) NC_000014.9:102050527:T:C Identity +NM_000059.4:c.2260C>T NP_000050.3:p.Gln754Ter NC_000013.11:32336614:C:T p.(Gln754Ter) NC_000013.11:32336614:C:T p.(Gln754Ter) NC_000013.11:32336614:C:T Identity +NM_001330504.2:c.1043C>T NP_001317433.1:p.Pro348Leu NC_000016.10:5084861:C:T p.(Pro348Leu) NC_000016.10:5084861:C:T p.(Pro348Leu) NC_000016.10:5084861:C:T Identity +NM_006015.6:c.824G>C NP_006006.3:p.Gly275Ala NC_000001.11:26697226:G:C p.(Gly275Ala) NC_000001.11:26697226:G:C p.(Gly275Ala) NC_000001.11:26697226:G:C Identity +NM_019888.3:c.151G>T NP_063941.3:p.Val51Phe NC_000020.11:56248993:G:T p.(Val51Phe) NC_000020.11:56248993:G:T p.(Val51Phe) NC_000020.11:56248993:G:T Identity +NM_001130144.3:c.2809G>T NP_001123616.1:p.Val937Leu NC_000011.10:65541209:C:A p.(Val937Leu) NC_000011.10:65541209:C:A p.(Val937Leu) NC_000011.10:65541209:C:A Identity +NM_001001890.3:c.1090G>C NP_001001890.1:p.Ala364Pro NC_000021.9:34792406:C:G p.(Ala364Pro) NC_000021.9:34792406:C:G p.(Ala364Pro) NC_000021.9:34792406:C:G Identity +NM_001171653.2:c.1287G>A NP_001165124.1:p.Met429Ile NC_000002.12:144399827:C:T p.(Met429Ile) NC_000002.12:144399827:C:T p.(Met429Ile) NC_000002.12:144399827:C:T Identity +NM_000361.3:c.1429G>A NP_000352.1:p.Gly477Ser NC_000020.11:23048075:C:T p.(Gly477Ser) NC_000020.11:23048075:C:T p.(Gly477Ser) NC_000020.11:23048075:C:T Identity +NM_003737.4:c.9643T>A NP_003728.1:p.Ser3215Thr NC_000011.10:6622032:A:T p.(Ser3215Thr) NC_000011.10:6622032:A:T p.(Ser3215Thr) NC_000011.10:6622032:A:T Identity +NM_000283.4:c.2139G>A NP_000274.3:p.Met713Ile NC_000004.12:664889:G:A p.(Met713Ile) NC_000004.12:664889:G:A p.(Met713Ile) NC_000004.12:664889:G:A Identity +NM_003620.4:c.1441G>A NP_003611.1:p.Ala481Thr NC_000017.11:60663174:G:A p.(Ala481Thr) NC_000017.11:60663174:G:A p.(Ala481Thr) NC_000017.11:60663174:G:A Identity +NM_020778.5:c.131G>T NP_065829.4:p.Arg44Leu NC_000015.10:84817582:G:T p.(Arg44Leu) NC_000015.10:84817582:G:T p.(Arg44Leu) NC_000015.10:84817582:G:T Identity +NM_015693.4:c.35G>A NP_056508.2:p.Ser12Asn NC_000004.12:127633068:G:A p.(Ser12Asn) NC_000004.12:127633068:G:A p.(Ser12Asn) NC_000004.12:127633068:G:A Identity +NM_001005505.3:c.82del NP_001005505.1:p.His28fs NC_000003.12:50503341:GGGGG:GGGG p.(His28ThrfsTer57) NC_000003.12:50503341:GGGGG:GGGG p.(His28ThrfsTer57) NC_000003.12:50503341:G: Analogous +NM_006766.5:c.2463C>A NP_006757.2:p.Asn821Lys NC_000008.11:41941417:G:T p.(Asn821Lys) NC_000008.11:41941417:G:T p.(Asn821Lys) NC_000008.11:41941417:G:T Identity +NM_003482.4:c.7460C>T NP_003473.3:p.Thr2487Ile NC_000012.12:49040309:G:A p.(Thr2487Ile) NC_000012.12:49040309:G:A p.(Thr2487Ile) NC_000012.12:49040309:G:A Identity +NM_014727.3:c.3496G>A NP_055542.1:p.Asp1166Asn NC_000019.10:35725054:G:A p.(Asp1166Asn) NC_000019.10:35725054:G:A p.(Asp1166Asn) NC_000019.10:35725054:G:A Identity +NM_001382394.1:c.3161G>A NP_001369323.1:p.Arg1054Lys NC_000002.12:38995286:C:T p.(Arg1054Lys) NC_000002.12:38995286:C:T p.(Arg1054Lys) NC_000002.12:38995286:C:T Identity +NM_001197104.2:c.2336C>T NP_001184033.1:p.Ser779Leu NC_000011.10:118473494:C:T p.(Ser779Leu) NC_000011.10:118473494:C:T p.(Ser779Leu) NC_000011.10:118473494:C:T Identity +NM_001317184.2:c.2267C>A NP_001304113.1:p.Ala756Glu NC_000016.10:68833299:C:A p.(Ala756Glu) NC_000016.10:68833299:C:A p.(Ala756Glu) NC_000016.10:68833299:C:A Identity +NM_001406655.1:c.2020T>G NP_001393584.1:p.Phe674Val NC_000002.12:47475284:T:G p.(Phe674Val) NC_000002.12:47475284:T:G p.(Phe674Val) NC_000002.12:47475284:T:G Identity +NM_001282944.2:c.434C>T NP_001269873.1:p.Pro145Leu NC_000009.12:136417143:C:T p.(Pro145Leu) NC_000009.12:136417143:C:T p.(Pro145Leu) NC_000009.12:136417143:C:T Identity +NM_032119.4:c.6517G>A NP_115495.3:p.Asp2173Asn NC_000005.10:90689886:G:A p.(Asp2173Asn) NC_000005.10:90689886:G:A p.(Asp2173Asn) NC_000005.10:90689886:G:A Identity +NM_000748.3:c.1210G>C NP_000739.1:p.Gly404Arg NC_000001.11:154572032:G:C p.(Gly404Arg) NC_000001.11:154572032:G:C p.(Gly404Arg) NC_000001.11:154572032:G:C Identity +NM_001261826.3:c.913G>C NP_001248755.1:p.Val305Leu NC_000019.10:2123399:C:G p.(Val305Leu) NC_000019.10:2123399:C:G p.(Val305Leu) NC_000019.10:2123399:C:G Identity +NM_000719.7:c.3627G>T NP_000710.5:p.Gln1209His NC_000012.12:2610608:G:T p.(Gln1209His) NC_000012.12:2610608:G:T p.(Gln1209His) NC_000012.12:2610608:G:T Identity +NM_001351508.2:c.652T>C NP_001338437.1:p.Cys218Arg NC_000002.12:70216430:A:G p.(Cys218Arg) NC_000002.12:70216430:A:G p.(Cys218Arg) NC_000002.12:70216430:A:G Identity +NM_001018037.2:c.3215A>G NP_001018047.1:p.Tyr1072Cys NC_000009.12:77283642:A:G p.(Tyr1072Cys) NC_000009.12:77283642:A:G p.(Tyr1072Cys) NC_000009.12:77283642:A:G Identity +NM_000482.4:c.599G>A NP_000473.2:p.Arg200His NC_000011.10:116821458:C:T p.(Arg200His) NC_000011.10:116821458:C:T p.(Arg200His) NC_000011.10:116821458:C:T Identity +NM_001190981.2:c.2275A>G NP_001177910.1:p.Ser759Gly NC_000005.10:55941380:T:C p.(Ser759Gly) NC_000005.10:55941380:T:C p.(Ser759Gly) NC_000005.10:55941380:T:C Identity +NM_000258.3:c.122A>G NP_000249.1:p.Lys41Arg NC_000003.12:46863268:T:C p.(Lys41Arg) NC_000003.12:46863268:T:C p.(Lys41Arg) NC_000003.12:46863268:T:C Identity +NM_001345867.2:c.781C>T NP_001332796.1:p.Arg261Trp NC_000004.12:44695651:C:T p.(Arg261Trp) NC_000004.12:44695651:C:T p.(Arg261Trp) NC_000004.12:44695651:C:T Identity +NM_001005862.3:c.3045C>G NP_001005862.1:p.His1015Gln NC_000017.11:39726978:C:G p.(His1015Gln) NC_000017.11:39726978:C:G p.(His1015Gln) NC_000017.11:39726978:C:G Identity +NM_001128148.3:c.214G>T NP_001121620.1:p.Ala72Ser NC_000003.12:196075182:C:A p.(Ala72Ser) NC_000003.12:196075182:C:A p.(Ala72Ser) NC_000003.12:196075182:C:A Identity +NM_021072.4:c.1742G>A NP_066550.2:p.Arg581Lys NC_000005.10:45267129:C:T p.(Arg581Lys) NC_000005.10:45267129:C:T p.(Arg581Lys) NC_000005.10:45267129:C:T Identity +NM_004963.4:c.2783G>A NP_004954.2:p.Cys928Tyr NC_000012.12:14619302:C:T p.(Cys928Tyr) NC_000012.12:14619302:C:T p.(Cys928Tyr) NC_000012.12:14619302:C:T Identity +NM_001136024.4:c.1766C>T NP_001129496.1:p.Ser589Phe NC_000023.11:17726402:C:T p.(Ser589Phe) NC_000023.11:17726402:C:T p.(Ser589Phe) NC_000023.11:17726402:C:T Identity +NM_000109.4:c.3704T>A NP_000100.3:p.Leu1235Gln NC_000023.11:32448513:A:T p.(Leu1235Gln) NC_000023.11:32448513:A:T p.(Leu1235Gln) NC_000023.11:32448513:A:T Identity +NM_001303110.2:c.11G>C NP_001290039.1:p.Arg4Pro NC_000013.11:110307016:C:G p.(Arg4Pro) NC_000013.11:110307016:C:G p.(Arg4Pro) NC_000013.11:110307016:C:G Identity +NM_001348729.2:c.1868C>T NP_001335658.1:p.Ser623Leu NC_000002.12:8786279:G:A p.(Ser623Leu) NC_000002.12:8786279:G:A p.(Ser623Leu) NC_000002.12:8786279:G:A Identity +NM_001122681.2:c.1024C>T NP_001116153.1:p.Arg342Ter NC_000004.12:2829929:C:T p.(Arg342Ter) NC_000004.12:2829929:C:T p.(Arg342Ter) NC_000004.12:2829929:C:T Identity +NM_001080.3:c.118_130dup NP_001071.1:p.Leu44fs NC_000006.12:24495112:CGGCCCGGCCCAGC:CGGCCCGGCCCAGCGGCCCGGCCCAGC p.(Leu44ArgfsTer96) NC_000006.12:24495112:CGGCCCGGCCCAGC:CGGCCCGGCCCAGCGGCCCGGCCCAGC p.(Leu44ArgfsTer96) ERR:SPDI Analogous +NM_000293.3:c.1265del NP_000284.1:p.Asn422fs NC_000016.10:47596426:AAAAAAA:AAAAAA p.(Asn422IlefsTer52) NC_000016.10:47596426:AAAAAAA:AAAAAA p.(Asn422IlefsTer52) NC_000016.10:47596432:A: Analogous +NM_182493.3:c.413C>A NP_872299.2:p.Ala138Glu NC_000016.10:46747780:G:T p.(Ala138Glu) NC_000016.10:46747780:G:T p.(Ala138Glu) NC_000016.10:46747780:G:T Identity +NM_001282656.2:c.386G>A NP_001269585.1:p.Ser129Asn NC_000011.10:9478404:G:A p.(Ser129Asn) NC_000011.10:9478404:G:A p.(Ser129Asn) NC_000011.10:9478404:G:A Identity +NM_001128204.2:c.1529G>C NP_001121676.1:p.Gly510Ala NC_000008.11:69621185:G:C p.(Gly510Ala) NC_000008.11:69621185:G:C p.(Gly510Ala) NC_000008.11:69621185:G:C Identity +NM_001146008.2:c.237G>C NP_001139480.1:p.Leu79Phe NC_000008.11:69832436:C:G p.(Leu79Phe) NC_000008.11:69832436:C:G p.(Leu79Phe) NC_000008.11:69832436:C:G Identity +NM_016151.4:c.2287G>A NP_057235.2:p.Gly763Ser NC_000016.10:29986558:G:A p.(Gly763Ser) NC_000016.10:29986558:G:A p.(Gly763Ser) NC_000016.10:29986558:G:A Identity +NM_003052.5:c.1816C>T NP_003043.3:p.Arg606Cys NC_000005.10:177398181:C:T p.(Arg606Cys) NC_000005.10:177398181:C:T p.(Arg606Cys) NC_000005.10:177398181:C:T Identity +NM_015657.4:c.2307del NP_056472.2:p.Lys769fs NC_000002.12:214997727:C: p.(Lys769AsnfsTer14) NC_000002.12:214997727:C: p.(Lys769AsnfsTer14) NC_000002.12:214997727:C: Analogous +NM_000109.4:c.1790T>A NP_000100.3:p.Val597Asp NC_000023.11:32565879:A:T p.(Val597Asp) NC_000023.11:32565879:A:T p.(Val597Asp) NC_000023.11:32565879:A:T Identity +NM_001348729.2:c.61C>G NP_001335658.1:p.Leu21Val NC_000002.12:8827032:G:C p.(Leu21Val) NC_000002.12:8827032:G:C p.(Leu21Val) NC_000002.12:8827032:G:C Identity +NM_001407127.1:c.599T>C NP_001394056.1:p.Ile200Thr NC_000003.12:30671673:T:C p.(Ile200Thr) NC_000003.12:30671673:T:C p.(Ile200Thr) NC_000003.12:30671673:T:C Identity +NM_000323.2:c.2705A>G NP_000314.1:p.Glu902Gly NC_000010.11:43120177:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_000902.5:c.1645G>T NP_000893.2:p.Gly549Ter NC_000003.12:155160432:G:T p.(Gly549Ter) NC_000003.12:155160432:G:T p.(Gly549Ter) NC_000003.12:155160432:G:T Identity +NM_018117.12:c.734A>G NP_060587.8:p.Asn245Ser NC_000010.11:120865066:A:G p.(Asn245Ser) NC_000010.11:120865066:A:G p.(Asn245Ser) NC_000010.11:120865066:A:G Identity +NM_013254.4:c.2095G>A NP_037386.1:p.Gly699Arg NC_000012.12:64497995:G:A p.(Gly699Arg) NC_000012.12:64497995:G:A p.(Gly699Arg) NC_000012.12:64497995:G:A Identity +NM_006766.5:c.5018C>T NP_006757.2:p.Pro1673Leu NC_000008.11:41933201:G:A p.(Pro1673Leu) NC_000008.11:41933201:G:A p.(Pro1673Leu) NC_000008.11:41933201:G:A Identity +NM_001199922.2:c.713T>C NP_001186851.1:p.Val238Ala NC_000011.10:124648079:A:G p.(Val238Ala) NC_000011.10:124648079:A:G p.(Val238Ala) NC_000011.10:124648079:A:G Identity +NM_018706.7:c.1580C>T NP_061176.4:p.Pro527Leu NC_000010.11:12097904:C:T p.(Pro527Leu) NC_000010.11:12097904:C:T p.(Pro527Leu) NC_000010.11:12097904:C:T Identity +NM_032119.4:c.4686A>T NP_115495.3:p.Arg1562Ser NC_000005.10:90658211:A:T p.(Arg1562Ser) NC_000005.10:90658211:A:T p.(Arg1562Ser) NC_000005.10:90658211:A:T Identity +NM_001256789.3:c.164G>A NP_001243718.1:p.Ser55Asn NC_000023.11:49231788:C:T p.(Ser55Asn) NC_000023.11:49231788:C:T p.(Ser55Asn) NC_000023.11:49231788:C:T Identity +NM_014989.7:c.1404G>T NP_055804.2:p.Glu468Asp NC_000006.12:72182874:G:T p.(Glu468Asp) NC_000006.12:72182874:G:T p.(Glu468Asp) NC_000006.12:72182874:G:T Identity +NM_006361.6:c.843C>G NP_006352.2:p.Ser281Arg NC_000017.11:48726801:G:C p.(Ser281Arg) NC_000017.11:48726801:G:C p.(Ser281Arg) NC_000017.11:48726801:G:C Identity +NM_001286445.3:c.2511T>A NP_001273374.1:p.Phe837Leu NC_000006.12:24828290:A:T p.(Phe837Leu) NC_000006.12:24828290:A:T p.(Phe837Leu) NC_000006.12:24828290:A:T Identity +NM_001378120.1:c.1507T>A NP_001365049.1:p.Ser503Thr NC_000002.12:148469449:T:A p.(Ser503Thr) NC_000002.12:148469449:T:A p.(Ser503Thr) NC_000002.12:148469449:T:A Identity +NM_001316690.1:c.466A>G NP_001303619.1:p.Ile156Val NC_000008.11:60741897:A:G p.(Ile156Val) NC_000008.11:60741897:A:G p.(Ile156Val) NC_000008.11:60741897:A:G Identity +NM_001195794.1:c.294C>T NP_001182723.1:p.His98= NC_000003.12:150941720:G:A p.(His98=) NC_000003.12:150941720:G:A p.(His98=) NC_000003.12:150941720:G:A Identity +NM_001037631.3:c.194A>G NP_001032720.1:p.Lys65Arg NC_000002.12:203870669:A:G p.(Lys65Arg) NC_000002.12:203870669:A:G p.(Lys65Arg) NC_000002.12:203870669:A:G Identity +NM_015488.5:c.257C>T NP_056303.3:p.Thr86Ile NC_000002.12:218339802:C:T p.(Thr86Ile) NC_000002.12:218339802:C:T p.(Thr86Ile) NC_000002.12:218339802:C:T Identity +NM_001278268.2:c.1057G>A NP_001265197.1:p.Gly353Arg NC_000018.10:62369015:G:A p.(Gly353Arg) NC_000018.10:62369015:G:A p.(Gly353Arg) NC_000018.10:62369015:G:A Identity +NM_001243776.2:c.397C>A NP_001230705.1:p.Leu133Ile NC_000011.10:95813508:C:A p.(Leu133Ile) NC_000011.10:95813508:C:A p.(Leu133Ile) NC_000011.10:95813508:C:A Identity +NM_022042.4:c.191G>A NP_071325.2:p.Arg64His NC_000004.12:991512:C:T p.(Arg64His) NC_000004.12:991512:C:T p.(Arg64His) NC_000004.12:991512:C:T Identity +NM_000784.4:c.1068_1072dup NP_000775.1:p.Gln358fs NC_000002.12:218814070:GATCC:GATCCGATCC p.(Gln358ArgfsTer52) NC_000002.12:218814070:GATCC:GATCCGATCC p.(Gln358ArgfsTer52) ERR:SPDI Analogous +NM_001258214.1:c.1342C>A NP_001245143.1:p.Pro448Thr NC_000001.11:67367907:C:A p.(Pro448Thr) NC_000001.11:67367907:C:A p.(Pro448Thr) NC_000001.11:67367907:C:A Identity +NM_001379277.1:c.5880del NP_001366206.1:p.Gln1961fs NC_000007.14:92102724:GGGGGGG:GGGGGG p.(Gln1961SerfsTer7) NC_000007.14:92102724:GGGGGGG:GGGGGG p.(Gln1961SerfsTer7) NC_000007.14:92102730:G: Analogous +NM_001005752.2:c.262T>G NP_001005752.1:p.Ser88Ala NC_000001.11:34785023:T:G p.(Ser88Ala) NC_000001.11:34785023:T:G p.(Ser88Ala) NC_000001.11:34785023:T:G Identity +NM_001135659.3:c.1907C>T NP_001129131.1:p.Thr636Ile NC_000002.12:50538608:G:A p.(Thr636Ile) NC_000002.12:50538608:G:A p.(Thr636Ile) NC_000002.12:50538608:G:A Identity +NM_001277115.2:c.1572C>G NP_001264044.1:p.Asp524Glu NC_000007.14:21571951:C:G p.(Asp524Glu) NC_000007.14:21571951:C:G p.(Asp524Glu) NC_000007.14:21571951:C:G Identity +NM_000632.4:c.718A>G NP_000623.2:p.Asn240Asp NC_000016.10:31273377:A:G p.(Asn240Asp) NC_000016.10:31273377:A:G p.(Asn240Asp) NC_000016.10:31273377:A:G Identity +NM_001394062.1:c.13982A>G NP_001380991.1:p.Asn4661Ser NC_000001.11:39385566:A:G p.(Asn4661Ser) NC_000001.11:39385566:A:G p.(Asn4661Ser) NC_000001.11:39385566:A:G Identity +NM_003105.6:c.4379C>A NP_003096.2:p.Thr1460Asn NC_000011.10:121595631:C:A p.(Thr1460Asn) NC_000011.10:121595631:C:A p.(Thr1460Asn) NC_000011.10:121595631:C:A Identity +NM_002470.4:c.4709A>T NP_002461.2:p.Lys1570Ile NC_000017.11:10632722:T:A p.(Lys1570Ile) NC_000017.11:10632722:T:A p.(Lys1570Ile) NC_000017.11:10632722:T:A Identity +NM_001386500.1:c.2866A>T NP_001373429.1:p.Met956Leu NC_000001.11:11228831:T:A p.(Met956Leu) NC_000001.11:11228831:T:A p.(Met956Leu) NC_000001.11:11228831:T:A Identity +NM_000051.4:c.3746G>A NP_000042.3:p.Arg1249Lys NC_000011.10:108282878:G:A p.(Arg1249Lys) NC_000011.10:108282878:G:A p.(Arg1249Lys) NC_000011.10:108282878:G:A Identity +NM_001322902.2:c.88C>T NP_001309831.1:p.Arg30Cys NC_000020.11:10277699:C:T p.(Arg30Cys) NC_000020.11:10277699:C:T p.(Arg30Cys) NC_000020.11:10277699:C:T Identity +NM_000376.3:c.160C>T NP_000367.1:p.Arg54Trp NC_000012.12:47865163:G:A p.(Arg54Trp) NC_000012.12:47865163:G:A p.(Arg54Trp) NC_000012.12:47865163:G:A Identity +NM_000875.5:c.3115G>A NP_000866.1:p.Ala1039Thr NC_000015.10:98934981:G:A p.(Ala1039Thr) NC_000015.10:98934981:G:A p.(Ala1039Thr) NC_000015.10:98934981:G:A Identity +NM_007215.4:c.942G>T NP_009146.2:p.Met314Ile NC_000017.11:64490822:C:A p.(Met314Ile) NC_000017.11:64490822:C:A p.(Met314Ile) NC_000017.11:64490822:C:A Identity +NM_001199799.2:c.279del NP_001186728.1:p.Asn93fs NC_000003.12:122005343:G: p.(Asn93LysfsTer9) NC_000003.12:122005343:G: p.(Asn93LysfsTer9) NC_000003.12:122005343:G: Analogous +NM_001291411.2:c.5977C>T NP_001278340.2:p.Arg1993Cys NC_000021.9:33555207:C:T p.(Arg1993Cys) NC_000021.9:33555207:C:T p.(Arg1993Cys) NC_000021.9:33555207:C:T Identity +NM_001130823.3:c.3676C>T NP_001124295.1:p.Arg1226Trp NC_000019.10:10140175:G:A p.(Arg1226Trp) NC_000019.10:10140175:G:A p.(Arg1226Trp) NC_000019.10:10140175:G:A Identity +NM_001287489.2:c.1632_1641dup NP_001274418.1:p.Leu548Ter NC_000002.12:26480947:CGTGTAGTTACGTGT:CGTGTAGTTACGTGTAGTTACGTGT p.(Leu548Ter) NC_000002.12:26480947:CGTGTAGTTACGTGT:CGTGTAGTTACGTGTAGTTACGTGT p.(Leu548Ter) ERR:SPDI Identity +NM_001060.6:c.796G>A NP_001051.1:p.Ala266Thr NC_000019.10:3595923:C:T p.(Ala266Thr) NC_000019.10:3595923:C:T p.(Ala266Thr) NC_000019.10:3595923:C:T Identity +NM_000444.6:c.440C>G NP_000435.3:p.Ala147Gly NC_000023.11:22077478:C:G p.(Ala147Gly) NC_000023.11:22077478:C:G p.(Ala147Gly) NC_000023.11:22077478:C:G Identity +NM_001100913.3:c.1681C>G NP_001094383.2:p.Gln561Glu NC_000014.9:105383413:C:G p.(Gln561Glu) NC_000014.9:105383413:C:G p.(Gln561Glu) NC_000014.9:105383413:C:G Identity +NM_003823.4:c.889C>A NP_003814.1:p.Leu297Ile NC_000020.11:63698548:C:A p.(Leu297Ile) NC_000020.11:63698548:C:A p.(Leu297Ile) NC_000020.11:63698548:C:A Identity +NM_000547.6:c.1039G>T NP_000538.3:p.Glu347Ter NC_000002.12:1477304:G:T p.(Glu347Ter) NC_000002.12:1477304:G:T p.(Glu347Ter) NC_000002.12:1477304:G:T Identity +NM_001282660.2:c.920C>T NP_001269589.1:p.Pro307Leu NC_000022.11:40420537:G:A p.(Pro307Leu) NC_000022.11:40420537:G:A p.(Pro307Leu) NC_000022.11:40420537:G:A Identity +NM_144701.3:c.1742G>C NP_653302.2:p.Ser581Thr NC_000001.11:67258979:G:C p.(Ser581Thr) NC_000001.11:67258979:G:C p.(Ser581Thr) NC_000001.11:67258979:G:C Identity +NM_000356.4:c.3787A>C NP_000347.2:p.Lys1263Gln NC_000005.10:150396517:A:C p.(Lys1263Gln) NC_000005.10:150396517:A:C p.(Lys1263Gln) NC_000005.10:150396517:A:C Identity +NM_001127208.3:c.3230A>G NP_001120680.1:p.His1077Arg NC_000004.12:105237171:A:G p.(His1077Arg) NC_000004.12:105237171:A:G p.(His1077Arg) NC_000004.12:105237171:A:G Identity +NM_000790.4:c.367G>C NP_000781.2:p.Gly123Arg NC_000007.14:50537927:C:G p.(Gly123Arg) NC_000007.14:50537927:C:G p.(Gly123Arg) NC_000007.14:50537927:C:G Identity +NM_001001890.3:c.64C>T NP_001001890.1:p.Pro22Ser NC_000021.9:34887048:G:A p.(Pro22Ser) NC_000021.9:34887048:G:A p.(Pro22Ser) NC_000021.9:34887048:G:A Identity +NM_006766.5:c.5067G>C NP_006757.2:p.Gln1689His NC_000008.11:41933152:C:G p.(Gln1689His) NC_000008.11:41933152:C:G p.(Gln1689His) NC_000008.11:41933152:C:G Identity +NM_001126336.3:c.1343C>A NP_001119808.1:p.Thr448Lys NC_000005.10:83553435:C:A p.(Thr448Lys) NC_000005.10:83553435:C:A p.(Thr448Lys) NC_000005.10:83553435:C:A Identity +NM_001410876.1:c.879_880insT NP_001397805.1:p.Leu294fs NC_000006.12:35457579::T p.(Leu294SerfsTer19) NC_000006.12:35457578:G:T p.(Leu294SerfsTer19) NC_000006.12:35457579:GC:T Analogous +NM_001080463.2:c.940T>C NP_001073932.1:p.Trp314Arg NC_000011.10:103117803:T:C p.(Trp314Arg) NC_000011.10:103117803:T:C p.(Trp314Arg) NC_000011.10:103117803:T:C Identity +NM_001280541.2:c.1866C>G NP_001267470.1:p.Phe622Leu NC_000003.12:129488294:C:G p.(Phe622Leu) NC_000003.12:129488294:C:G p.(Phe622Leu) NC_000003.12:129488294:C:G Identity +NM_001164342.2:c.484G>A NP_001157814.1:p.Val162Met NC_000003.12:114351593:C:T p.(Val162Met) NC_000003.12:114351593:C:T p.(Val162Met) NC_000003.12:114351593:C:T Identity +NM_001178129.2:c.1705G>T NP_001171600.1:p.Asp569Tyr NC_000007.14:83368028:C:A p.(Asp569Tyr) NC_000007.14:83368028:C:A p.(Asp569Tyr) NC_000007.14:83368028:C:A Identity +NM_001271052.1:c.1601A>T NP_001257981.1:p.Gln534Leu NC_000019.10:14752341:T:A p.(Gln534Leu) NC_000019.10:14752341:T:A p.(Gln534Leu) NC_000019.10:14752341:T:A Identity +NM_001410714.1:c.418_419del NP_001397643.1:p.Leu140fs NC_000004.12:25159057:AAAAA:AAA p.(Leu140ThrfsTer2) NC_000004.12:25159057:AAAAA:AAA p.(Leu140ThrfsTer2) NC_000004.12:25159057:AA: Analogous +NM_052945.4:c.29G>A NP_443177.1:p.Gly10Asp NC_000022.11:41926744:C:T p.(Gly10Asp) NC_000022.11:41926744:C:T p.(Gly10Asp) NC_000022.11:41926744:C:T Identity +NM_002439.5:c.2112A>T NP_002430.3:p.Lys704Asn NC_000005.10:80768861:A:T p.(Lys704Asn) NC_000005.10:80768861:A:T p.(Lys704Asn) NC_000005.10:80768861:A:T Identity +NM_001283050.2:c.220G>A NP_001269979.1:p.Glu74Lys NC_000021.9:44237052:C:T p.(Glu74Lys) NC_000021.9:44237052:C:T p.(Glu74Lys) NC_000021.9:44237052:C:T Identity +NM_001376.5:c.473C>T NP_001367.2:p.Ala158Val NC_000014.9:101979446:C:T p.(Ala158Val) NC_000014.9:101979446:C:T p.(Ala158Val) NC_000014.9:101979446:C:T Identity +NM_001256876.3:c.140A>G NP_001243805.1:p.Lys47Arg NC_000009.12:710905:A:G p.(Lys47Arg) NC_000009.12:710905:A:G p.(Lys47Arg) NC_000009.12:710905:A:G Identity +NM_014727.3:c.5882C>T NP_055542.1:p.Pro1961Leu NC_000019.10:35732430:C:T p.(Pro1961Leu) NC_000019.10:35732430:C:T p.(Pro1961Leu) NC_000019.10:35732430:C:T Identity +NM_001384158.1:c.1420G>A NP_001371087.1:p.Gly474Ser NC_000014.9:91870273:C:T p.(Gly474Ser) NC_000014.9:91870273:C:T p.(Gly474Ser) NC_000014.9:91870273:C:T Identity +NM_001102.4:c.31G>A NP_001093.1:p.Asp11Asn NC_000014.9:68979025:C:T p.(Asp11Asn) NC_000014.9:68979025:C:T p.(Asp11Asn) NC_000014.9:68979025:C:T Identity +NM_000257.4:c.3809T>C NP_000248.2:p.Val1270Ala NC_000014.9:23419526:A:G p.(Val1270Ala) NC_000014.9:23419526:A:G p.(Val1270Ala) NC_000014.9:23419526:A:G Identity +NM_001294335.2:c.904C>A NP_001281264.1:p.Leu302Ile NC_000001.11:31744665:G:T p.(Leu302Ile) NC_000001.11:31744665:G:T p.(Leu302Ile) NC_000001.11:31744665:G:T Identity +NM_001363688.1:c.457G>T NP_001350617.1:p.Gly153Cys NC_000014.9:74480685:C:A p.(Gly153Cys) NC_000014.9:74480685:C:A p.(Gly153Cys) NC_000014.9:74480685:C:A Identity +NM_000338.3:c.2572C>T NP_000329.2:p.Arg858Ter NC_000015.10:48285191:C:T p.(Arg858Ter) NC_000015.10:48285191:C:T p.(Arg858Ter) NC_000015.10:48285191:C:T Identity +NM_001148.6:c.10225A>G NP_001139.3:p.Ser3409Gly NC_000004.12:113358842:A:G p.(Ser3409Gly) NC_000004.12:113358842:A:G p.(Ser3409Gly) NC_000004.12:113358842:A:G Identity +NM_000093.5:c.4048C>A NP_000084.3:p.Pro1350Thr NC_000009.12:134815608:C:A p.(Pro1350Thr) NC_000009.12:134815608:C:A p.(Pro1350Thr) NC_000009.12:134815608:C:A Identity +NM_001171184.2:c.1430A>G NP_001164655.1:p.Asn477Ser NC_000023.11:101250545:A:G p.(Asn477Ser) NC_000023.11:101250545:A:G p.(Asn477Ser) NC_000023.11:101250545:A:G Identity +NM_001310338.2:c.415C>T NP_001297267.1:p.Gln139Ter NC_000020.11:17970273:C:T p.(Gln139Ter) NC_000020.11:17970273:C:T p.(Gln139Ter) NC_000020.11:17970273:C:T Identity +NM_000836.4:c.302T>A NP_000827.2:p.Leu101Gln NC_000019.10:48398693:T:A p.(Leu101Gln) NC_000019.10:48398693:T:A p.(Leu101Gln) NC_000019.10:48398693:T:A Identity +NM_012193.4:c.730G>A NP_036325.2:p.Asp244Asn NC_000011.10:86952025:C:T p.(Asp244Asn) NC_000011.10:86952025:C:T p.(Asp244Asn) NC_000011.10:86952025:C:T Identity +NM_032119.4:c.9734C>T NP_115495.3:p.Thr3245Ile NC_000005.10:90721044:C:T p.(Thr3245Ile) NC_000005.10:90721044:C:T p.(Thr3245Ile) NC_000005.10:90721044:C:T Identity +NM_001256182.2:c.7709G>A NP_001243111.1:p.Ser2570Asn NC_000016.10:89274817:C:T p.(Ser2570Asn) NC_000016.10:89274817:C:T p.(Ser2570Asn) NC_000016.10:89274817:C:T Identity +NM_004369.4:c.2533T>A NP_004360.2:p.Ser845Thr NC_000002.12:237377308:A:T p.(Ser845Thr) NC_000002.12:237377308:A:T p.(Ser845Thr) NC_000002.12:237377308:A:T Identity +NM_000264.5:c.4071G>A NP_000255.2:p.Met1357Ile NC_000009.12:95447184:C:T p.(Met1357Ile) NC_000009.12:95447184:C:T p.(Met1357Ile) NC_000009.12:95447184:C:T Identity +NM_001354689.3:c.151C>G NP_001341618.1:p.Pro51Ala NC_000003.12:12618570:G:C p.(Pro51Ala) NC_000003.12:12618570:G:C p.(Pro51Ala) NC_000003.12:12618570:G:C Identity +NM_001006600.3:c.1896C>A NP_001006600.1:p.Asn632Lys NC_000005.10:66048773:C:A p.(Asn632Lys) NC_000005.10:66048773:C:A p.(Asn632Lys) NC_000005.10:66048773:C:A Identity +NM_018136.5:c.4691G>T NP_060606.3:p.Cys1564Phe NC_000001.11:197104559:C:A p.(Cys1564Phe) NC_000001.11:197104559:C:A p.(Cys1564Phe) NC_000001.11:197104559:C:A Identity +NM_001142864.4:c.2375C>T NP_001136336.2:p.Ala792Val NC_000016.10:88733699:G:A p.(Ala792Val) NC_000016.10:88733699:G:A p.(Ala792Val) NC_000016.10:88733699:G:A Identity +NM_001206927.2:c.13894G>A NP_001193856.1:p.Gly4632Arg NC_000006.12:39030161:G:A p.(Gly4632Arg) NC_000006.12:39030161:G:A p.(Gly4632Arg) NC_000006.12:39030161:G:A Identity +NM_006891.4:c.419G>A NP_008822.2:p.Arg140Gln NC_000002.12:208121778:C:T p.(Arg140Gln) NC_000002.12:208121778:C:T p.(Arg140Gln) NC_000002.12:208121778:C:T Identity +NM_000747.3:c.1162G>T NP_000738.2:p.Asp388Tyr NC_000017.11:7455400:G:T p.(Asp388Tyr) NC_000017.11:7455400:G:T p.(Asp388Tyr) NC_000017.11:7455400:G:T Identity +NM_001177465.3:c.195T>A NP_001170936.1:p.Asp65Glu NC_000023.11:150469842:T:A p.(Asp65Glu) NC_000023.11:150469842:T:A p.(Asp65Glu) NC_000023.11:150469842:T:A Identity +NM_001014763.1:c.319C>T NP_001014763.1:p.Pro107Ser NC_000019.10:51354319:G:A p.(Pro107Ser) NC_000019.10:51354319:G:A p.(Pro107Ser) NC_000019.10:51354319:G:A Identity +NM_000101.4:c.103C>T NP_000092.2:p.Gln35Ter NC_000016.10:88648069:G:A p.(Gln35Ter) NC_000016.10:88648069:G:A p.(Gln35Ter) NC_000016.10:88648069:G:A Identity +NM_001042517.2:c.1185T>G NP_001035982.1:p.His395Gln NC_000013.11:59992126:A:C p.(His395Gln) NC_000013.11:59992126:A:C p.(His395Gln) NC_000013.11:59992126:A:C Identity +NM_001012505.2:c.139G>A NP_001012523.1:p.Gly47Arg NC_000003.12:71198242:C:T p.(Gly47Arg) NC_000003.12:71198242:C:T p.(Gly47Arg) NC_000003.12:71198242:C:T Identity +NM_001042410.2:c.236A>G NP_001035869.1:p.Gln79Arg NC_000002.12:219232014:A:G p.(Gln79Arg) NC_000002.12:219232014:A:G p.(Gln79Arg) NC_000002.12:219232014:A:G Identity +NM_001160036.2:c.343C>T NP_001153508.1:p.Arg115Cys NC_000008.11:23005455:C:T p.(Arg115Cys) NC_000008.11:23005455:C:T p.(Arg115Cys) NC_000008.11:23005455:C:T Identity +NM_000115.5:c.1153G>A NP_000106.1:p.Ala385Thr NC_000013.11:77899899:C:T p.(Ala385Thr) NC_000013.11:77899899:C:T p.(Ala385Thr) NC_000013.11:77899899:C:T Identity +NM_000094.4:c.7153C>T NP_000085.1:p.Pro2385Ser NC_000003.12:48571111:G:A p.(Pro2385Ser) NC_000003.12:48571111:G:A p.(Pro2385Ser) NC_000003.12:48571111:G:A Identity +NM_004463.3:c.1096G>A NP_004454.2:p.Val366Met NC_000023.11:54470020:C:T p.(Val366Met) NC_000023.11:54470020:C:T p.(Val366Met) NC_000023.11:54470020:C:T Identity +NM_014727.3:c.7091A>T NP_055542.1:p.Asp2364Val NC_000019.10:35733803:A:T p.(Asp2364Val) NC_000019.10:35733803:A:T p.(Asp2364Val) NC_000019.10:35733803:A:T Identity +NM_001277115.2:c.793_794insCAGCT NP_001264044.1:p.Arg265fs NC_000007.14:21559703::CAGCT p.(Arg265ProfsTer5) NC_000007.14:21559702:C:CAGCT p.(Arg265ProfsTer5) NC_000007.14:21559703:CG:CAGCT Analogous +NM_000163.5:c.1262C>A NP_000154.1:p.Ala421Glu NC_000005.10:42718768:C:A p.(Ala421Glu) NC_000005.10:42718768:C:A p.(Ala421Glu) NC_000005.10:42718768:C:A Identity +NM_001352496.2:c.43del NP_001339425.1:p.Ser15fs NC_000007.14:97869113:AAA:AA p.(Ser15LeufsTer5) NC_000007.14:97869113:AAA:AA p.(Ser15LeufsTer5) NC_000007.14:97869113:A: Analogous +NM_021076.4:c.595G>A NP_066554.2:p.Ala199Thr NC_000022.11:29480856:G:A p.(Ala199Thr) NC_000022.11:29480856:G:A p.(Ala199Thr) NC_000022.11:29480856:G:A Identity +NM_020699.4:c.110A>G NP_065750.1:p.His37Arg NC_000001.11:153828237:T:C p.(His37Arg) NC_000001.11:153828237:T:C p.(His37Arg) NC_000001.11:153828237:T:C Identity +NM_004122.2:c.108G>C NP_004113.1:p.Gln36His NC_000003.12:172448305:C:G p.(Gln36His) NC_000003.12:172448305:C:G p.(Gln36His) NC_000003.12:172448305:C:G Identity +NM_000258.3:c.289G>A NP_000249.1:p.Gly97Arg NC_000003.12:46860693:C:T p.(Gly97Arg) NC_000003.12:46860693:C:T p.(Gly97Arg) NC_000003.12:46860693:C:T Identity +NM_001317061.3:c.964G>C NP_001303990.1:p.Gly322Arg NC_000006.12:3105927:G:C p.(Gly322Arg) NC_000006.12:3105927:G:C p.(Gly322Arg) NC_000006.12:3105927:G:C Identity +NM_005477.3:c.3608T>C NP_005468.1:p.Leu1203Pro NC_000015.10:73322484:A:G p.(Leu1203Pro) NC_000015.10:73322484:A:G p.(Leu1203Pro) NC_000015.10:73322484:A:G Identity +NM_001317195.3:c.719_720insA NP_001304124.1:p.Asp241fs NC_000016.10:68679826::A p.(Asp241GlyfsTer2) NC_000016.10:68679825:C:A p.(Asp241GlyfsTer2) NC_000016.10:68679826:CG:A Analogous +NM_001256317.3:c.796A>T NP_001243246.1:p.Lys266Ter NC_000021.9:42382220:T:A p.(Lys266Ter) NC_000021.9:42382220:T:A p.(Lys266Ter) NC_000021.9:42382220:T:A Identity +NM_031935.3:c.14456G>C NP_114141.2:p.Ser4819Thr NC_000001.11:186145770:G:C p.(Ser4819Thr) NC_000001.11:186145770:G:C p.(Ser4819Thr) NC_000001.11:186145770:G:C Identity +NM_001411025.1:c.5039A>T NP_001397954.1:p.Asp1680Val NC_000011.10:66692707:T:A p.(Asp1680Val) NC_000011.10:66692707:T:A p.(Asp1680Val) NC_000011.10:66692707:T:A Identity +NM_000632.4:c.2060C>T NP_000623.2:p.Ser687Phe NC_000016.10:31324455:C:T p.(Ser687Phe) NC_000016.10:31324455:C:T p.(Ser687Phe) NC_000016.10:31324455:C:T Identity +NM_000403.4:c.655C>T NP_000394.2:p.Arg219Ter NC_000001.11:23796929:G:A p.(Arg219Ter) NC_000001.11:23796929:G:A p.(Arg219Ter) NC_000001.11:23796929:G:A Identity +NM_001122670.2:c.2280G>C NP_001116142.1:p.Glu760Asp NC_000023.11:72618798:C:G p.(Glu760Asp) NC_000023.11:72618798:C:G p.(Glu760Asp) NC_000023.11:72618798:C:G Identity +NM_000447.3:c.864A>G NP_000438.2:p.Ile288Met NC_000001.11:226890110:A:G p.(Ile288Met) NC_000001.11:226890110:A:G p.(Ile288Met) NC_000001.11:226890110:A:G Identity +NM_032405.2:c.971G>A NP_115781.1:p.Cys324Tyr NC_000021.9:42382045:C:T p.(Cys324Tyr) NC_000021.9:42382045:C:T p.(Cys324Tyr) NC_000021.9:42382045:C:T Identity +NM_001272073.2:c.753del NP_001259002.1:p.Gln252fs NC_000003.12:49101622:CCC:CC p.(Gln252ArgfsTer60) NC_000003.12:49101622:CCC:CC p.(Gln252ArgfsTer60) NC_000003.12:49101622:C: Analogous +NM_001270507.2:c.2273C>A NP_001257436.1:p.Pro758His NC_000006.12:137881218:C:A p.(Pro758His) NC_000006.12:137881218:C:A p.(Pro758His) NC_000006.12:137881218:C:A Identity +NM_001024858.4:c.3271G>A NP_001020029.1:p.Glu1091Lys NC_000014.9:64786693:C:T p.(Glu1091Lys) NC_000014.9:64786693:C:T p.(Glu1091Lys) NC_000014.9:64786693:C:T Identity +NM_001382394.1:c.2612T>C NP_001369323.1:p.Met871Thr NC_000002.12:39007070:A:G p.(Met871Thr) NC_000002.12:39007070:A:G p.(Met871Thr) NC_000002.12:39007070:A:G Identity +NM_000057.4:c.3784C>T NP_000048.1:p.Gln1262Ter NC_000015.10:90809168:C:T p.(Gln1262Ter) NC_000015.10:90809168:C:T p.(Gln1262Ter) NC_000015.10:90809168:C:T Identity +NM_001197104.2:c.10507G>C NP_001184033.1:p.Ala3503Pro NC_000011.10:118506398:G:C p.(Ala3503Pro) NC_000011.10:118506398:G:C p.(Ala3503Pro) NC_000011.10:118506398:G:C Identity +NM_001244580.2:c.7837G>A NP_001231509.1:p.Ala2613Thr NC_000007.14:98976166:G:A p.(Ala2613Thr) NC_000007.14:98976166:G:A p.(Ala2613Thr) NC_000007.14:98976166:G:A Identity +NM_001942.4:c.580A>T NP_001933.2:p.Ile194Leu NC_000018.10:31331762:A:T p.(Ile194Leu) NC_000018.10:31331762:A:T p.(Ile194Leu) NC_000018.10:31331762:A:T Identity +NM_001142800.2:c.5845T>C NP_001136272.1:p.Tyr1949His NC_000006.12:64436255:A:G p.(Tyr1949His) NC_000006.12:64436255:A:G p.(Tyr1949His) NC_000006.12:64436255:A:G Identity +NM_001031696.4:c.28C>G NP_001026866.1:p.Leu10Val NC_000019.10:40366609:C:G p.(Leu10Val) NC_000019.10:40366609:C:G p.(Leu10Val) NC_000019.10:40366609:C:G Identity +NM_001291411.2:c.5311G>C NP_001278340.2:p.Val1771Leu NC_000021.9:33554541:G:C p.(Val1771Leu) NC_000021.9:33554541:G:C p.(Val1771Leu) NC_000021.9:33554541:G:C Identity +NM_004646.4:c.2199dup NP_004637.1:p.Leu734fs NC_000019.10:35844115:CC:CCC p.(Leu734AlafsTer17) NC_000019.10:35844115:CC:CCC p.(Leu734AlafsTer17) ERR:SPDI Analogous +NM_001173408.2:c.2920G>A NP_001166879.1:p.Asp974Asn NC_000002.12:219562434:C:T p.(Asp974Asn) NC_000002.12:219562434:C:T p.(Asp974Asn) NC_000002.12:219562434:C:T Identity +NM_001286205.2:c.1141C>T NP_001273134.1:p.Gln381Ter NC_000016.10:90043297:C:T p.(Gln381Ter) NC_000016.10:90043297:C:T p.(Gln381Ter) NC_000016.10:90043297:C:T Identity +NM_000988.5:c.155A>G NP_000979.1:p.Lys52Arg NC_000017.11:43000005:A:G p.(Lys52Arg) NC_000017.11:43000005:A:G p.(Lys52Arg) NC_000017.11:43000005:A:G Identity +NM_001159291.2:c.2614C>T NP_001152763.1:p.Arg872Cys NC_000006.12:109445205:G:A p.(Arg872Cys) NC_000006.12:109445205:G:A p.(Arg872Cys) NC_000006.12:109445205:G:A Identity +NM_001369369.1:c.335C>G NP_001356298.1:p.Pro112Arg NC_000017.11:28524713:C:G p.(Pro112Arg) NC_000017.11:28524713:C:G p.(Pro112Arg) NC_000017.11:28524713:C:G Identity +NM_000303.3:c.599G>T NP_000294.1:p.Gly200Val NC_000016.10:8813065:G:T p.(Gly200Val) NC_000016.10:8813065:G:T p.(Gly200Val) NC_000016.10:8813065:G:T Identity +NM_001166110.2:c.478G>A NP_001159582.1:p.Gly160Arg NC_000004.12:168878368:G:A p.(Gly160Arg) NC_000004.12:168878368:G:A p.(Gly160Arg) NC_000004.12:168878368:G:A Identity +NM_001286074.2:c.2399C>G NP_001273003.2:p.Ala800Gly NC_000023.11:71387432:C:G p.(Ala800Gly) NC_000023.11:71387432:C:G p.(Ala800Gly) NC_000023.11:71387432:C:G Identity +NM_001379277.1:c.3880A>G NP_001366206.1:p.Met1294Val NC_000007.14:92089405:A:G p.(Met1294Val) NC_000007.14:92089405:A:G p.(Met1294Val) NC_000007.14:92089405:A:G Identity +NM_001277155.3:c.965G>T NP_001264084.1:p.Gly322Val NC_000001.11:235465634:C:A p.(Gly322Val) NC_000001.11:235465634:C:A p.(Gly322Val) NC_000001.11:235465634:C:A Identity +NM_001318204.2:c.82G>A NP_001305133.1:p.Val28Met NC_000009.12:91949881:C:T p.(Val28Met) NC_000009.12:91949881:C:T p.(Val28Met) NC_000009.12:91949881:C:T Identity +NM_001303496.3:c.4100T>C NP_001290425.1:p.Leu1367Pro NC_000007.14:93131871:A:G p.(Leu1367Pro) NC_000007.14:93131871:A:G p.(Leu1367Pro) NC_000007.14:93131871:A:G Identity +NM_015657.4:c.2999T>G NP_056472.2:p.Met1000Arg NC_000002.12:214987669:A:C p.(Met1000Arg) NC_000002.12:214987669:A:C p.(Met1000Arg) NC_000002.12:214987669:A:C Identity +NM_014727.3:c.4571A>G NP_055542.1:p.Asn1524Ser NC_000019.10:35728170:A:G p.(Asn1524Ser) NC_000019.10:35728170:A:G p.(Asn1524Ser) NC_000019.10:35728170:A:G Identity +NM_001204182.2:c.859G>A NP_001191111.1:p.Gly287Arg NC_000001.11:211669238:C:T p.(Gly287Arg) NC_000001.11:211669238:C:T p.(Gly287Arg) NC_000001.11:211669238:C:T Identity +NM_014727.3:c.3716A>G NP_055542.1:p.Gln1239Arg NC_000019.10:35725551:A:G p.(Gln1239Arg) NC_000019.10:35725551:A:G p.(Gln1239Arg) NC_000019.10:35725551:A:G Identity +NM_000323.2:c.2120A>G NP_000314.1:p.Asp707Gly NC_000010.11:43114719:A:G ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_004963.4:c.36_45del NP_004954.2:p.Leu13fs NC_000012.12:14696403:GAAGAGCAGTGA:GA p.(Leu13SerfsTer11) NC_000012.12:14696403:GAAGAGCAGTGA:GA p.(Leu13SerfsTer11) NC_000012.12:14696403:GAAGAGCAGT: Analogous +NM_001277115.2:c.4708G>A NP_001264044.1:p.Val1570Met NC_000007.14:21636077:G:A p.(Val1570Met) NC_000007.14:21636077:G:A p.(Val1570Met) NC_000007.14:21636077:G:A Identity +NM_001256267.2:c.1924C>T NP_001243196.1:p.Pro642Ser NC_000010.11:68166616:C:T p.(Pro642Ser) NC_000010.11:68166616:C:T p.(Pro642Ser) NC_000010.11:68166616:C:T Identity +NM_003482.4:c.11981A>G NP_003473.3:p.Gln3994Arg NC_000012.12:49032723:T:C p.(Gln3994Arg) NC_000012.12:49032723:T:C p.(Gln3994Arg) NC_000012.12:49032723:T:C Identity +NM_004795.4:c.2768C>T NP_004786.2:p.Pro923Leu NC_000013.11:33063914:C:T p.(Pro923Leu) NC_000013.11:33063914:C:T p.(Pro923Leu) NC_000013.11:33063914:C:T Identity +NM_001411020.1:c.3151A>C NP_001397949.1:p.Thr1051Pro NC_000014.9:50130587:T:G p.(Thr1051Pro) NC_000014.9:50130587:T:G p.(Thr1051Pro) NC_000014.9:50130587:T:G Identity +NM_001303496.3:c.786C>A NP_001290425.1:p.Asp262Glu NC_000007.14:93135185:G:T p.(Asp262Glu) NC_000007.14:93135185:G:T p.(Asp262Glu) NC_000007.14:93135185:G:T Identity +NM_001130144.3:c.3266C>T NP_001123616.1:p.Pro1089Leu NC_000011.10:65540131:G:A p.(Pro1089Leu) NC_000011.10:65540131:G:A p.(Pro1089Leu) NC_000011.10:65540131:G:A Identity +NM_000178.4:c.1020dup NP_000169.1:p.Leu341fs NC_000020.11:34931947:T:TT p.(Leu341ThrfsTer5) NC_000020.11:34931947:T:TT p.(Leu341ThrfsTer5) ERR:SPDI Analogous +NM_001277115.2:c.7144G>A NP_001264044.1:p.Val2382Ile NC_000007.14:21720733:G:A p.(Val2382Ile) NC_000007.14:21720733:G:A p.(Val2382Ile) NC_000007.14:21720733:G:A Identity +NM_000244.4:c.565G>A NP_000235.3:p.Val189Ile NC_000011.10:64807994:C:T p.(Val189Ile) NC_000011.10:64807994:C:T p.(Val189Ile) NC_000011.10:64807994:C:T Identity +NM_000422.3:c.184A>T NP_000413.1:p.Ser62Cys NC_000017.11:41624325:T:A p.(Ser62Cys) NC_000017.11:41624325:T:A p.(Ser62Cys) NC_000017.11:41624325:T:A Identity +NM_000037.4:c.1195G>A NP_000028.3:p.Ala399Thr NC_000008.11:41718116:C:T p.(Ala399Thr) NC_000008.11:41718116:C:T p.(Ala399Thr) NC_000008.11:41718116:C:T Identity +NM_001282531.3:c.2358T>G NP_001269460.1:p.Ile786Met NC_000020.11:50892355:A:C p.(Ile786Met) NC_000020.11:50892355:A:C p.(Ile786Met) NC_000020.11:50892355:A:C Identity +NM_001099952.4:c.3910G>A NP_001093422.2:p.Gly1304Ser NC_000003.12:4691251:G:A p.(Gly1304Ser) NC_000003.12:4691251:G:A p.(Gly1304Ser) NC_000003.12:4691251:G:A Identity +NM_001142463.3:c.548G>A NP_001135935.1:p.Arg183Gln NC_000023.11:154767289:G:A p.(Arg183Gln) NC_000023.11:154767289:G:A p.(Arg183Gln) NC_000023.11:154767289:G:A Identity +NM_001375567.1:c.1568T>C NP_001362496.1:p.Ile523Thr NC_000009.12:20820330:T:C p.(Ile523Thr) NC_000009.12:20820330:T:C p.(Ile523Thr) NC_000009.12:20820330:T:C Identity +NM_170606.3:c.9143T>C NP_733751.2:p.Leu3048Pro NC_000007.14:152176309:A:G p.(Leu3048Pro) NC_000007.14:152176309:A:G p.(Leu3048Pro) NC_000007.14:152176309:A:G Identity +NM_002772.3:c.1396C>A NP_002763.3:p.Gln466Lys NC_000021.9:18343537:G:T p.(Gln466Lys) NC_000021.9:18343537:G:T p.(Gln466Lys) NC_000021.9:18343537:G:T Identity +NM_001035.3:c.84C>G NP_001026.2:p.Ile28Met NC_000001.11:237270531:C:G p.(Ile28Met) NC_000001.11:237270531:C:G p.(Ile28Met) NC_000001.11:237270531:C:G Identity +NM_001256468.2:c.622C>T NP_001243397.1:p.Pro208Ser NC_000010.11:74959969:C:T p.(Pro208Ser) NC_000010.11:74959969:C:T p.(Pro208Ser) NC_000010.11:74959969:C:T Identity +NM_206933.4:c.12328T>C NP_996816.3:p.Tyr4110His NC_000001.11:215675582:A:G p.(Tyr4110His) NC_000001.11:215675582:A:G p.(Tyr4110His) NC_000001.11:215675582:A:G Identity +NM_001411072.1:c.709C>T NP_001398001.1:p.Leu237Phe NC_000017.11:16325879:C:T p.(Leu237Phe) NC_000017.11:16325879:C:T p.(Leu237Phe) NC_000017.11:16325879:C:T Identity +NM_030773.4:c.1063G>A NP_110400.1:p.Asp355Asn NC_000020.11:59024489:G:A p.(Asp355Asn) NC_000020.11:59024489:G:A p.(Asp355Asn) NC_000020.11:59024489:G:A Identity +NM_016616.5:c.1095T>A NP_057700.3:p.Tyr365Ter NC_000007.14:37884402:T:A p.(Tyr365Ter) NC_000007.14:37884402:T:A p.(Tyr365Ter) NC_000007.14:37884402:T:A Identity +NM_001080.3:c.104C>G NP_001071.1:p.Ser35Cys NC_000006.12:24495099:C:G p.(Ser35Cys) NC_000006.12:24495099:C:G p.(Ser35Cys) NC_000006.12:24495099:C:G Identity +NM_138924.3:c.581C>G NP_620279.1:p.Pro194Arg NC_000019.10:1398904:G:C p.(Pro194Arg) NC_000019.10:1398904:G:C p.(Pro194Arg) NC_000019.10:1398904:G:C Identity +NM_001256053.2:c.3450T>G NP_001242982.1:p.Asp1150Glu NC_000010.11:27034996:A:C p.(Asp1150Glu) NC_000010.11:27034996:A:C p.(Asp1150Glu) NC_000010.11:27034996:A:C Identity +NM_001256849.1:c.320C>T NP_001243778.1:p.Pro107Leu NC_000019.10:50401780:C:T p.(Pro107Leu) NC_000019.10:50401780:C:T p.(Pro107Leu) NC_000019.10:50401780:C:T Identity +NM_001127208.3:c.5650A>G NP_001120680.1:p.Thr1884Ala NC_000004.12:105276159:A:G p.(Thr1884Ala) NC_000004.12:105276159:A:G p.(Thr1884Ala) NC_000004.12:105276159:A:G Identity +NM_001105.5:c.455G>A NP_001096.1:p.Arg152His NC_000002.12:157778218:C:T p.(Arg152His) NC_000002.12:157778218:C:T p.(Arg152His) NC_000002.12:157778218:C:T Identity +NM_000240.4:c.1390G>A NP_000231.1:p.Gly464Arg NC_000023.11:43744123:G:A p.(Gly464Arg) NC_000023.11:43744123:G:A p.(Gly464Arg) NC_000023.11:43744123:G:A Identity +NM_000821.7:c.938_939del NP_000812.2:p.Pro313fs NC_000002.12:85553447:AG: p.(Pro313ArgfsTer33) NC_000002.12:85553447:AG: p.(Pro313ArgfsTer33) NC_000002.12:85553447:AG: Analogous +NM_001277115.2:c.12179T>G NP_001264044.1:p.Leu4060Arg NC_000007.14:21873484:T:G p.(Leu4060Arg) NC_000007.14:21873484:T:G p.(Leu4060Arg) NC_000007.14:21873484:T:G Identity +NM_000033.4:c.1508del NP_000024.2:p.Leu503fs NC_000023.11:153740110:T: p.(Leu503ArgfsTer55) NC_000023.11:153740110:T: p.(Leu503ArgfsTer55) NC_000023.11:153740110:T: Analogous +NM_000539.3:c.67C>A NP_000530.1:p.Pro23Thr NC_000003.12:129528799:C:A p.(Pro23Thr) NC_000003.12:129528799:C:A p.(Pro23Thr) NC_000003.12:129528799:C:A Identity +NM_001031710.3:c.254T>G NP_001026880.2:p.Val85Gly NC_000007.14:23124717:T:G p.(Val85Gly) NC_000007.14:23124717:T:G p.(Val85Gly) NC_000007.14:23124717:T:G Identity +NM_001079872.2:c.516del NP_001073341.1:p.Lys172fs NC_000023.11:120560122:TTT:TT p.(Lys172AsnfsTer8) NC_000023.11:120560122:TTT:TT p.(Lys172AsnfsTer8) NC_000023.11:120560122:T: Analogous +NM_030632.3:c.1220_1226dup NP_085135.1:p.Ser410fs NC_000018.10:33738621:AAGCATGAA:AAGCATGAAGCATGAA p.(Ser410HisfsTer24) NC_000018.10:33738621:AAGCATGAA:AAGCATGAAGCATGAA p.(Ser410HisfsTer24) ERR:SPDI Analogous +NM_001281739.3:c.2314G>T NP_001268668.1:p.Val772Phe NC_000018.10:36718187:G:T p.(Val772Phe) NC_000018.10:36718187:G:T p.(Val772Phe) NC_000018.10:36718187:G:T Identity +NM_001320333.2:c.935C>A NP_001307262.1:p.Ala312Asp NC_000001.11:157696236:G:T p.(Ala312Asp) NC_000001.11:157696236:G:T p.(Ala312Asp) NC_000001.11:157696236:G:T Identity +NM_001365953.1:c.3335A>G NP_001352882.1:p.Asn1112Ser NC_000001.11:10304519:A:G p.(Asn1112Ser) NC_000001.11:10304519:A:G p.(Asn1112Ser) NC_000001.11:10304519:A:G Identity +NM_002457.5:c.1301C>G NP_002448.5:p.Pro434Arg NC_000011.10:1082920:C:G p.(Pro434Arg) NC_000011.10:1082920:C:G p.(Pro434Arg) NC_000011.10:1082920:C:G Identity +NM_001425248.1:c.1019C>T NP_001412177.1:p.Ala340Val NC_000011.10:73394682:C:T p.(Ala340Val) NC_000011.10:73394682:C:T p.(Ala340Val) NC_000011.10:73394682:C:T Identity +NM_001291324.3:c.3452T>C NP_001278253.1:p.Leu1151Pro NC_000017.11:81447230:T:C p.(Leu1151Pro) NC_000017.11:81447230:T:C p.(Leu1151Pro) NC_000017.11:81447230:T:C Identity +NM_001350162.2:c.706A>G NP_001337091.1:p.Ser236Gly NC_000008.11:30858811:T:C p.(Ser236Gly) NC_000008.11:30858811:T:C p.(Ser236Gly) NC_000008.11:30858811:T:C Identity +NM_001316690.1:c.470G>A NP_001303619.1:p.Arg157Gln NC_000008.11:60741901:G:A p.(Arg157Gln) NC_000008.11:60741901:G:A p.(Arg157Gln) NC_000008.11:60741901:G:A Identity +NM_001330311.2:c.1904C>T NP_001317240.1:p.Ser635Leu NC_000001.11:1336325:G:A p.(Ser635Leu) NC_000001.11:1336325:G:A p.(Ser635Leu) NC_000001.11:1336325:G:A Identity +NM_000088.4:c.439C>T NP_000079.2:p.Pro147Ser NC_000017.11:50199257:G:A p.(Pro147Ser) NC_000017.11:50199257:G:A p.(Pro147Ser) NC_000017.11:50199257:G:A Identity +NM_001267722.2:c.1162T>G NP_001254651.1:p.Leu388Val NC_000004.12:56490356:T:G p.(Leu388Val) NC_000004.12:56490356:T:G p.(Leu388Val) NC_000004.12:56490356:T:G Identity +NM_001080463.2:c.10273C>T NP_001073932.1:p.Gln3425Ter NC_000011.10:103255459:C:T p.(Gln3425Ter) NC_000011.10:103255459:C:T p.(Gln3425Ter) NC_000011.10:103255459:C:T Identity +NM_001039590.3:c.3176C>G NP_001034679.2:p.Ala1059Gly NC_000023.11:41184024:C:G p.(Ala1059Gly) NC_000023.11:41184024:C:G p.(Ala1059Gly) NC_000023.11:41184024:C:G Identity +NM_001363711.2:c.4012C>A NP_001350640.1:p.Pro1338Thr NC_000015.10:45095895:G:T p.(Pro1338Thr) NC_000015.10:45095895:G:T p.(Pro1338Thr) NC_000015.10:45095895:G:T Identity +NM_001277115.2:c.10128C>G NP_001264044.1:p.Ile3376Met NC_000007.14:21801237:C:G p.(Ile3376Met) NC_000007.14:21801237:C:G p.(Ile3376Met) NC_000007.14:21801237:C:G Identity +NM_001346418.1:c.870C>A NP_001333347.1:p.His290Gln NC_000006.12:158980900:G:T p.(His290Gln) NC_000006.12:158980900:G:T p.(His290Gln) NC_000006.12:158980900:G:T Identity +NM_033071.5:c.8264G>C NP_149062.2:p.Trp2755Ser NC_000006.12:152387315:C:G p.(Trp2755Ser) NC_000006.12:152387315:C:G p.(Trp2755Ser) NC_000006.12:152387315:C:G Identity +NM_000425.5:c.2942C>T NP_000416.1:p.Thr981Ile NC_000023.11:153864924:G:A p.(Thr981Ile) NC_000023.11:153864924:G:A p.(Thr981Ile) NC_000023.11:153864924:G:A Identity +NM_020433.5:c.1712T>C NP_065166.2:p.Val571Ala NC_000020.11:44115962:A:G p.(Val571Ala) NC_000020.11:44115962:A:G p.(Val571Ala) NC_000020.11:44115962:A:G Identity +NM_020884.7:c.2606C>T NP_065935.4:p.Ala869Val NC_000020.11:34994306:C:T p.(Ala869Val) NC_000020.11:34994306:C:T p.(Ala869Val) NC_000020.11:34994306:C:T Identity +NM_001316690.1:c.2089G>A NP_001303619.1:p.Val697Met NC_000008.11:60865174:G:A p.(Val697Met) NC_000008.11:60865174:G:A p.(Val697Met) NC_000008.11:60865174:G:A Identity +NM_001102406.2:c.3035G>A NP_001095876.1:p.Ser1012Asn NC_000004.12:112435147:G:A p.(Ser1012Asn) NC_000004.12:112435147:G:A p.(Ser1012Asn) NC_000004.12:112435147:G:A Identity +NM_001202.6:c.856C>T NP_001193.2:p.Arg286Ter NC_000014.9:53950402:G:A p.(Arg286Ter) NC_000014.9:53950402:G:A p.(Arg286Ter) NC_000014.9:53950402:G:A Identity +NM_001313726.2:c.2749C>T NP_001300655.1:p.Pro917Ser NC_000011.10:26647845:C:T p.(Pro917Ser) NC_000011.10:26647845:C:T p.(Pro917Ser) NC_000011.10:26647845:C:T Identity +NM_001204197.3:c.461G>A NP_001191126.1:p.Arg154His NC_000013.11:35583943:G:A p.(Arg154His) NC_000013.11:35583943:G:A p.(Arg154His) NC_000013.11:35583943:G:A Identity +NM_000814.6:c.440G>A NP_000805.1:p.Gly147Glu NC_000015.10:26621334:C:T p.(Gly147Glu) NC_000015.10:26621334:C:T p.(Gly147Glu) NC_000015.10:26621334:C:T Identity +NM_000152.5:c.482C>A NP_000143.2:p.Pro161His NC_000017.11:80105067:C:A p.(Pro161His) NC_000017.11:80105067:C:A p.(Pro161His) NC_000017.11:80105067:C:A Identity +NM_001127660.2:c.1739C>T NP_001121132.1:p.Thr580Met NC_000001.11:12006559:C:T p.(Thr580Met) NC_000001.11:12006559:C:T p.(Thr580Met) NC_000001.11:12006559:C:T Identity +NM_001101362.3:c.957del NP_001094832.1:p.Val320fs NC_000015.10:65077770:CC:C p.(Val320TrpfsTer122) NC_000015.10:65077770:CC:C p.(Val320TrpfsTer122) NC_000015.10:65077771:C: Analogous +NM_001372.4:c.8837G>A NP_001363.2:p.Arg2946Gln NC_000017.11:11822048:G:A p.(Arg2946Gln) NC_000017.11:11822048:G:A p.(Arg2946Gln) NC_000017.11:11822048:G:A Identity +NM_001330495.2:c.7A>G NP_001317424.1:p.Asn3Asp NC_000023.11:63724650:T:C p.(Asn3Asp) NC_000023.11:63724650:T:C p.(Asn3Asp) NC_000023.11:63724650:T:C Identity +NM_001127244.2:c.1023G>T NP_001120716.1:p.Trp341Cys NC_000009.12:128908186:G:T p.(Trp341Cys) NC_000009.12:128908186:G:T p.(Trp341Cys) NC_000009.12:128908186:G:T Identity +NM_003373.4:c.1660C>G NP_003364.1:p.Gln554Glu NC_000010.11:74095771:C:G p.(Gln554Glu) NC_000010.11:74095771:C:G p.(Gln554Glu) NC_000010.11:74095771:C:G Identity +NM_001277115.2:c.2968A>C NP_001264044.1:p.Ile990Leu NC_000007.14:21600086:A:C p.(Ile990Leu) NC_000007.14:21600086:A:C p.(Ile990Leu) NC_000007.14:21600086:A:C Identity +NM_006662.3:c.7354G>A NP_006653.2:p.Ala2452Thr NC_000016.10:30737393:G:A p.(Ala2452Thr) NC_000016.10:30737393:G:A p.(Ala2452Thr) NC_000016.10:30737393:G:A Identity +NM_000057.4:c.637T>C NP_000048.1:p.Ser213Pro NC_000015.10:90749904:T:C p.(Ser213Pro) NC_000015.10:90749904:T:C p.(Ser213Pro) NC_000015.10:90749904:T:C Identity +NM_001134673.4:c.1232C>T NP_001128145.1:p.Ala411Val NC_000001.11:61404259:C:T p.(Ala411Val) NC_000001.11:61404259:C:T p.(Ala411Val) NC_000001.11:61404259:C:T Identity +NM_003126.4:c.4309G>T NP_003117.2:p.Asp1437Tyr NC_000001.11:158644281:C:A p.(Asp1437Tyr) NC_000001.11:158644281:C:A p.(Asp1437Tyr) NC_000001.11:158644281:C:A Identity +NM_001256269.2:c.520C>T NP_001243198.1:p.Arg174Cys NC_000016.10:29799148:C:T p.(Arg174Cys) NC_000016.10:29799148:C:T p.(Arg174Cys) NC_000016.10:29799148:C:T Identity +NM_001316690.1:c.1975G>A NP_001303619.1:p.Val659Ile NC_000008.11:60865060:G:A p.(Val659Ile) NC_000008.11:60865060:G:A p.(Val659Ile) NC_000008.11:60865060:G:A Identity +NM_001159291.2:c.2246G>T NP_001152763.1:p.Arg749Leu NC_000006.12:109446212:C:A p.(Arg749Leu) NC_000006.12:109446212:C:A p.(Arg749Leu) NC_000006.12:109446212:C:A Identity +NM_001178000.2:c.257T>G NP_001171471.1:p.Val86Gly NC_000002.12:208273667:T:G p.(Val86Gly) NC_000002.12:208273667:T:G p.(Val86Gly) NC_000002.12:208273667:T:G Identity +NM_000875.5:c.2792A>G NP_000866.1:p.Glu931Gly NC_000015.10:98929566:A:G p.(Glu931Gly) NC_000015.10:98929566:A:G p.(Glu931Gly) NC_000015.10:98929566:A:G Identity +NM_001195833.2:c.1327C>G NP_001182762.1:p.Arg443Gly NC_000019.10:38869957:G:C p.(Arg443Gly) NC_000019.10:38869957:G:C p.(Arg443Gly) NC_000019.10:38869957:G:C Identity +NM_013447.4:c.1508T>C NP_038475.2:p.Ile503Thr NC_000019.10:14755035:A:G p.(Ile503Thr) NC_000019.10:14755035:A:G p.(Ile503Thr) NC_000019.10:14755035:A:G Identity +NM_001146.5:c.49A>G NP_001137.2:p.Ile17Val NC_000008.11:107497509:T:C p.(Ile17Val) NC_000008.11:107497509:T:C p.(Ile17Val) NC_000008.11:107497509:T:C Identity +NM_001424108.1:c.4184T>C NP_001411037.1:p.Ile1395Thr NC_000006.12:33166540:A:G p.(Ile1395Thr) NC_000006.12:33166540:A:G p.(Ile1395Thr) NC_000006.12:33166540:A:G Identity +NM_001350888.2:c.277G>A NP_001337817.1:p.Ala93Thr NC_000014.9:96398245:G:A p.(Ala93Thr) NC_000014.9:96398245:G:A p.(Ala93Thr) NC_000014.9:96398245:G:A Identity +NM_001350234.2:c.2903G>A NP_001337163.1:p.Arg968His NC_000001.11:9724844:G:A p.(Arg968His) NC_000001.11:9724844:G:A p.(Arg968His) NC_000001.11:9724844:G:A Identity +NM_015243.3:c.1318G>T NP_056058.2:p.Glu440Ter NC_000008.11:99135029:G:T p.(Glu440Ter) NC_000008.11:99135029:G:T p.(Glu440Ter) NC_000008.11:99135029:G:T Identity +NM_001378120.1:c.1603A>G NP_001365049.1:p.Thr535Ala NC_000002.12:148469545:A:G p.(Thr535Ala) NC_000002.12:148469545:A:G p.(Thr535Ala) NC_000002.12:148469545:A:G Identity +NM_001203247.2:c.394C>A NP_001190176.1:p.Pro132Thr NC_000007.14:148829817:G:T p.(Pro132Thr) NC_000007.14:148829817:G:T p.(Pro132Thr) NC_000007.14:148829817:G:T Identity +NM_001256182.2:c.3165T>G NP_001243111.1:p.Cys1055Trp NC_000016.10:89283376:A:C p.(Cys1055Trp) NC_000016.10:89283376:A:C p.(Cys1055Trp) NC_000016.10:89283376:A:C Identity +NM_005120.3:c.5970C>A NP_005111.2:p.His1990Gln NC_000023.11:71137868:C:A p.(His1990Gln) NC_000023.11:71137868:C:A p.(His1990Gln) NC_000023.11:71137868:C:A Identity +NM_003803.4:c.3323G>A NP_003794.3:p.Gly1108Asp NC_000018.10:3112392:C:T p.(Gly1108Asp) NC_000018.10:3112392:C:T p.(Gly1108Asp) NC_000018.10:3112392:C:T Identity +NM_001270974.2:c.7214_7215del NP_001257903.1:p.Ser2405fs NC_000016.10:70921160:AGA:A p.(Ser2405CysfsTer2) NC_000016.10:70921160:AGA:A p.(Ser2405CysfsTer2) NC_000016.10:70921160:AG: Analogous +NM_000539.3:c.82C>G NP_000530.1:p.Gln28Glu NC_000003.12:129528814:C:G p.(Gln28Glu) NC_000003.12:129528814:C:G p.(Gln28Glu) NC_000003.12:129528814:C:G Identity +NM_001289395.2:c.1075G>A NP_001276324.1:p.Val359Met NC_000006.12:35503647:C:T p.(Val359Met) NC_000006.12:35503647:C:T p.(Val359Met) NC_000006.12:35503647:C:T Identity +NM_000720.4:c.5056G>A NP_000711.1:p.Glu1686Lys NC_000003.12:53800320:G:A p.(Glu1686Lys) NC_000003.12:53800320:G:A p.(Glu1686Lys) NC_000003.12:53800320:G:A Identity +NM_000381.4:c.1067A>G NP_000372.1:p.Asn356Ser NC_000023.11:10474696:T:C p.(Asn356Ser) NC_000023.11:10474696:T:C p.(Asn356Ser) NC_000023.11:10474696:T:C Identity +NM_001080463.2:c.9891G>A NP_001073932.1:p.Trp3297Ter NC_000011.10:103243742:G:A p.(Trp3297Ter) NC_000011.10:103243742:G:A p.(Trp3297Ter) NC_000011.10:103243742:G:A Identity +NM_002296.4:c.1278C>G NP_002287.2:p.Phe426Leu NC_000001.11:225410326:G:C p.(Phe426Leu) NC_000001.11:225410326:G:C p.(Phe426Leu) NC_000001.11:225410326:G:C Identity +NM_000425.5:c.971C>T NP_000416.1:p.Ala324Val NC_000023.11:153870075:G:A p.(Ala324Val) NC_000023.11:153870075:G:A p.(Ala324Val) NC_000023.11:153870075:G:A Identity +NM_001305275.2:c.2284G>T NP_001292204.1:p.Ala762Ser NC_000001.11:1045189:G:T p.(Ala762Ser) NC_000001.11:1045189:G:T p.(Ala762Ser) NC_000001.11:1045189:G:T Identity +NM_001289395.2:c.988G>C NP_001276324.1:p.Asp330His NC_000006.12:35503813:C:G p.(Asp330His) NC_000006.12:35503813:C:G p.(Asp330His) NC_000006.12:35503813:C:G Identity +NM_000322.5:c.409G>C NP_000313.2:p.Gly137Arg NC_000006.12:42721925:C:G p.(Gly137Arg) NC_000006.12:42721925:C:G p.(Gly137Arg) NC_000006.12:42721925:C:G Identity +NM_001142800.2:c.9219T>A NP_001136272.1:p.His3073Gln NC_000006.12:63720811:A:T p.(His3073Gln) NC_000006.12:63720811:A:T p.(His3073Gln) NC_000006.12:63720811:A:T Identity +NM_178857.6:c.4483C>T NP_849188.4:p.Pro1495Ser NC_000008.11:10609614:G:A p.(Pro1495Ser) NC_000008.11:10609614:G:A p.(Pro1495Ser) NC_000008.11:10609614:G:A Identity +NM_178857.6:c.2624G>A NP_849188.4:p.Ser875Asn NC_000008.11:10611473:C:T p.(Ser875Asn) NC_000008.11:10611473:C:T p.(Ser875Asn) NC_000008.11:10611473:C:T Identity +NM_001256959.2:c.2198T>C NP_001243888.2:p.Val733Ala NC_000001.11:11837467:T:C p.(Val733Ala) NC_000001.11:11837467:T:C p.(Val733Ala) NC_000001.11:11837467:T:C Identity +NM_003365.3:c.964G>A NP_003356.2:p.Val322Met NC_000003.12:48600976:C:T p.(Val322Met) NC_000003.12:48600976:C:T p.(Val322Met) NC_000003.12:48600976:C:T Identity +NM_001379245.1:c.4706C>A NP_001366174.1:p.Ser1569Ter NC_000013.11:35182411:C:A p.(Ser1569Ter) NC_000013.11:35182411:C:A p.(Ser1569Ter) NC_000013.11:35182411:C:A Identity +NM_001277115.2:c.12361T>C NP_001264044.1:p.Tyr4121His NC_000007.14:21880866:T:C p.(Tyr4121His) NC_000007.14:21880866:T:C p.(Tyr4121His) NC_000007.14:21880866:T:C Identity +NM_000782.5:c.359G>A NP_000773.2:p.Arg120His NC_000020.11:54172998:C:T p.(Arg120His) NC_000020.11:54172998:C:T p.(Arg120His) NC_000020.11:54172998:C:T Identity +NM_001145853.1:c.1787A>G NP_001139325.1:p.Lys596Arg NC_000004.12:6301581:A:G p.(Lys596Arg) NC_000004.12:6301581:A:G p.(Lys596Arg) NC_000004.12:6301581:A:G Identity +NM_001350529.1:c.88C>G NP_001337458.1:p.Pro30Ala NC_000001.11:150332752:C:G p.(Pro30Ala) NC_000001.11:150332752:C:G p.(Pro30Ala) NC_000001.11:150332752:C:G Identity +NM_001040428.4:c.634A>G NP_001035518.1:p.Thr212Ala NC_000014.9:88426588:A:G p.(Thr212Ala) NC_000014.9:88426588:A:G p.(Thr212Ala) NC_000014.9:88426588:A:G Identity +NM_001199397.3:c.1804C>T NP_001186326.1:p.Gln602Ter NC_000004.12:169508276:G:A p.(Gln602Ter) NC_000004.12:169508276:G:A p.(Gln602Ter) NC_000004.12:169508276:G:A Identity +NM_000336.3:c.1819G>A NP_000327.2:p.Glu607Lys NC_000016.10:23380696:G:A p.(Glu607Lys) NC_000016.10:23380696:G:A p.(Glu607Lys) NC_000016.10:23380696:G:A Identity +NM_001256071.3:c.7856T>C NP_001243000.2:p.Leu2619Pro NC_000017.11:80346190:T:C p.(Leu2619Pro) NC_000017.11:80346190:T:C p.(Leu2619Pro) NC_000017.11:80346190:T:C Identity +NM_138694.4:c.10774C>T NP_619639.3:p.Gln3592Ter NC_000006.12:51659351:G:A p.(Gln3592Ter) NC_000006.12:51659351:G:A p.(Gln3592Ter) NC_000006.12:51659351:G:A Identity +NM_001278055.2:c.6466T>A NP_001264984.1:p.Ser2156Thr NC_000013.11:23336968:A:T p.(Ser2156Thr) NC_000013.11:23336968:A:T p.(Ser2156Thr) NC_000013.11:23336968:A:T Identity +NM_001387438.1:c.933dup NP_001374367.1:p.Pro312fs NC_000019.10:18868782:CCCCCC:CCCCCCC p.(Pro312AlafsTer40) NC_000019.10:18868782:CCCCCC:CCCCCCC p.(Pro312AlafsTer40) ERR:SPDI Analogous +NM_001013838.3:c.108G>C NP_001013860.1:p.Glu36Asp NC_000016.10:67645606:G:C p.(Glu36Asp) NC_000016.10:67645606:G:C p.(Glu36Asp) NC_000016.10:67645606:G:C Identity +NM_001042594.2:c.290A>C NP_001036059.1:p.His97Pro NC_000007.14:124858975:T:G p.(His97Pro) NC_000007.14:124858975:T:G p.(His97Pro) NC_000007.14:124858975:T:G Identity +NM_000553.6:c.4143C>G NP_000544.2:p.Ile1381Met NC_000008.11:31167181:C:G p.(Ile1381Met) NC_000008.11:31167181:C:G p.(Ile1381Met) NC_000008.11:31167181:C:G Identity +NM_002076.4:c.587G>A NP_002067.1:p.Gly196Asp NC_000012.12:64744845:C:T p.(Gly196Asp) NC_000012.12:64744845:C:T p.(Gly196Asp) NC_000012.12:64744845:C:T Identity +NM_001330520.3:c.1733C>T NP_001317449.1:p.Ala578Val NC_000016.10:24790374:C:T p.(Ala578Val) NC_000016.10:24790374:C:T p.(Ala578Val) NC_000016.10:24790374:C:T Identity +NM_001378328.1:c.5931C>A NP_001365257.1:p.Asp1977Glu NC_000022.11:46394174:G:T p.(Asp1977Glu) NC_000022.11:46394174:G:T p.(Asp1977Glu) NC_000022.11:46394174:G:T Identity +NM_001142805.2:c.397C>G NP_001136277.1:p.Leu133Val NC_000023.11:153691305:C:G p.(Leu133Val) NC_000023.11:153691305:C:G p.(Leu133Val) NC_000023.11:153691305:C:G Identity +NM_206933.4:c.9265G>A NP_996816.3:p.Val3089Ile NC_000001.11:215838096:C:T p.(Val3089Ile) NC_000001.11:215838096:C:T p.(Val3089Ile) NC_000001.11:215838096:C:T Identity +NM_001035506.1:c.2093C>T NP_001030583.1:p.Pro698Leu NC_000002.12:27067496:C:T ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_006343.3:c.989G>A NP_006334.2:p.Gly330Asp NC_000002.12:111975316:G:A p.(Gly330Asp) NC_000002.12:111975316:G:A p.(Gly330Asp) NC_000002.12:111975316:G:A Identity +NM_001042681.2:c.3950G>A NP_001036146.1:p.Arg1317Gln NC_000001.11:8358584:C:T p.(Arg1317Gln) NC_000001.11:8358584:C:T p.(Arg1317Gln) NC_000001.11:8358584:C:T Identity +NM_001378418.1:c.3485G>A NP_001365347.1:p.Arg1162His NC_000022.11:42211820:C:T p.(Arg1162His) NC_000022.11:42211820:C:T p.(Arg1162His) NC_000022.11:42211820:C:T Identity +NM_001163285.2:c.238C>A NP_001156757.1:p.Pro80Thr NC_000022.11:29278040:C:A p.(Pro80Thr) NC_000022.11:29278040:C:A p.(Pro80Thr) NC_000022.11:29278040:C:A Identity +NM_001308176.2:c.1442C>T NP_001295105.1:p.Ala481Val NC_000018.10:27990159:G:A p.(Ala481Val) NC_000018.10:27990159:G:A p.(Ala481Val) NC_000018.10:27990159:G:A Identity +NM_001291463.2:c.352G>C NP_001278392.1:p.Glu118Gln NC_000017.11:36260263:C:G p.(Glu118Gln) NC_000017.11:36260263:C:G p.(Glu118Gln) NC_000017.11:36260263:C:G Identity +NM_033400.3:c.6400G>A NP_207646.2:p.Gly2134Arg NC_000014.9:23523541:C:T p.(Gly2134Arg) NC_000014.9:23523541:C:T p.(Gly2134Arg) NC_000014.9:23523541:C:T Identity +NM_001167965.1:c.1180G>A NP_001161437.1:p.Gly394Ser NC_000001.11:43197609:G:A p.(Gly394Ser) NC_000001.11:43197609:G:A p.(Gly394Ser) NC_000001.11:43197609:G:A Identity +NM_020338.4:c.1493C>A NP_065071.1:p.Pro498His NC_000010.11:79298406:C:A p.(Pro498His) NC_000010.11:79298406:C:A p.(Pro498His) NC_000010.11:79298406:C:A Identity +NM_001077186.2:c.4136A>G NP_001070654.1:p.Glu1379Gly NC_000019.10:50280327:A:G p.(Glu1379Gly) NC_000019.10:50280327:A:G p.(Glu1379Gly) NC_000019.10:50280327:A:G Identity +NM_001207000.1:c.46C>T NP_001193929.1:p.Pro16Ser NC_000004.12:82429644:G:A p.(Pro16Ser) NC_000004.12:82429644:G:A p.(Pro16Ser) NC_000004.12:82429644:G:A Identity +NM_004304.5:c.2518A>G NP_004295.2:p.Ile840Val NC_000002.12:29232417:T:C p.(Ile840Val) NC_000002.12:29232417:T:C p.(Ile840Val) NC_000002.12:29232417:T:C Identity +NM_001273.5:c.4796C>T NP_001264.2:p.Ala1599Val NC_000012.12:6581156:G:A p.(Ala1599Val) NC_000012.12:6581156:G:A p.(Ala1599Val) NC_000012.12:6581156:G:A Identity +NM_000307.5:c.289C>G NP_000298.3:p.Arg97Gly NC_000023.11:83508612:C:G p.(Arg97Gly) NC_000023.11:83508612:C:G p.(Arg97Gly) NC_000023.11:83508612:C:G Identity +NM_020884.7:c.2813A>T NP_065935.4:p.Glu938Val NC_000020.11:34995447:A:T p.(Glu938Val) NC_000020.11:34995447:A:T p.(Glu938Val) NC_000020.11:34995447:A:T Identity +NM_001386500.1:c.5033dup NP_001373429.1:p.Val1679fs NC_000001.11:11139400:CCC:CCCC p.(Val1679SerfsTer2) NC_000001.11:11139400:CCC:CCCC p.(Val1679SerfsTer2) ERR:SPDI Analogous +NM_001372305.1:c.1049A>G NP_001359234.1:p.Lys350Arg NC_000019.10:50323675:T:C p.(Lys350Arg) NC_000019.10:50323675:T:C p.(Lys350Arg) NC_000019.10:50323675:T:C Identity +NM_000203.5:c.367G>T NP_000194.2:p.Glu123Ter NC_000004.12:1000678:G:T p.(Glu123Ter) NC_000004.12:1000678:G:T p.(Glu123Ter) NC_000004.12:1000678:G:T Identity +NM_001079846.1:c.4440C>G NP_001073315.1:p.Asp1480Glu NC_000016.10:3736655:G:C p.(Asp1480Glu) NC_000016.10:3736655:G:C p.(Asp1480Glu) NC_000016.10:3736655:G:C Identity +NM_001347839.2:c.89G>C NP_001334768.1:p.Arg30Thr NC_000012.12:45729924:G:C p.(Arg30Thr) NC_000012.12:45729924:G:C p.(Arg30Thr) NC_000012.12:45729924:G:C Identity +NM_001362843.2:c.4937A>G NP_001349772.1:p.Glu1646Gly NC_000022.11:41176481:A:G p.(Glu1646Gly) NC_000022.11:41176481:A:G p.(Glu1646Gly) NC_000022.11:41176481:A:G Identity +NM_000780.4:c.379G>A NP_000771.2:p.Asp127Asn NC_000008.11:58497132:C:T p.(Asp127Asn) NC_000008.11:58497132:C:T p.(Asp127Asn) NC_000008.11:58497132:C:T Identity +NM_001282145.2:c.2330A>G NP_001269074.1:p.Asn777Ser NC_000023.11:5892937:T:C p.(Asn777Ser) NC_000023.11:5892937:T:C p.(Asn777Ser) NC_000023.11:5892937:T:C Identity +NM_001308210.2:c.2866G>A NP_001295139.1:p.Gly956Arg NC_000018.10:75288272:G:A p.(Gly956Arg) NC_000018.10:75288272:G:A p.(Gly956Arg) NC_000018.10:75288272:G:A Identity +NM_000516.7:c.140G>A NP_000507.1:p.Gly47Asp NC_000020.11:58895611:G:A p.(Gly47Asp) NC_000020.11:58895611:G:A p.(Gly47Asp) NC_000020.11:58895611:G:A Identity +NM_001178015.2:c.667C>T NP_001171486.1:p.His223Tyr NC_000002.12:161862962:C:T p.(His223Tyr) NC_000002.12:161862962:C:T p.(His223Tyr) NC_000002.12:161862962:C:T Identity +NM_020949.3:c.2040A>C NP_066000.2:p.Glu680Asp NC_000003.12:170467330:T:G p.(Glu680Asp) NC_000003.12:170467330:T:G p.(Glu680Asp) NC_000003.12:170467330:T:G Identity +NM_020949.3:c.404T>C NP_066000.2:p.Ile135Thr NC_000003.12:170501245:A:G p.(Ile135Thr) NC_000003.12:170501245:A:G p.(Ile135Thr) NC_000003.12:170501245:A:G Identity +NM_001242385.2:c.790A>G NP_001229314.1:p.Met264Val NC_000006.12:10801932:T:C p.(Met264Val) NC_000006.12:10801932:T:C p.(Met264Val) NC_000006.12:10801932:T:C Identity +NM_001289395.2:c.1298C>A NP_001276324.1:p.Ala433Asp NC_000006.12:35500018:G:T p.(Ala433Asp) NC_000006.12:35500018:G:T p.(Ala433Asp) NC_000006.12:35500018:G:T Identity +NM_000435.3:c.4648C>G NP_000426.2:p.His1550Asp NC_000019.10:15174155:G:C p.(His1550Asp) NC_000019.10:15174155:G:C p.(His1550Asp) NC_000019.10:15174155:G:C Identity +NM_001077186.2:c.1647C>G NP_001070654.1:p.Ile549Met NC_000019.10:50249813:C:G p.(Ile549Met) NC_000019.10:50249813:C:G p.(Ile549Met) NC_000019.10:50249813:C:G Identity +NM_001172477.1:c.14G>A NP_001165948.1:p.Arg5His NC_000008.11:102238808:C:T p.(Arg5His) NC_000008.11:102238808:C:T p.(Arg5His) NC_000008.11:102238808:C:T Identity +NM_001363722.2:c.468C>G NP_001350651.1:p.Ser156Arg NC_000006.12:69719030:G:C p.(Ser156Arg) NC_000006.12:69719030:G:C p.(Ser156Arg) NC_000006.12:69719030:G:C Identity +NM_001142800.2:c.8942_8943insGATA NP_001136272.1:p.Ser2983fs NC_000006.12:63721088::TATC p.(Ser2983TyrfsTer9) NC_000006.12:63721087:A:TATC p.(Ser2983TyrfsTer9) NC_000006.12:63721088:AG:TATC Analogous +NM_001282368.2:c.598C>T NP_001269297.1:p.Pro200Ser NC_000006.12:76011199:G:A p.(Pro200Ser) NC_000006.12:76011199:G:A p.(Pro200Ser) NC_000006.12:76011199:G:A Identity +NM_001040113.2:c.1764_1765inv NP_001035202.1:p.Gly589Arg NC_000016.10:15756345:CA:TG p.(Gly589Arg) NC_000016.10:15756345:CA:TG p.(Gly589Arg) ERR:SPDI Identity +NM_001346897.2:c.2686A>G NP_001333826.1:p.Ile896Val NC_000007.14:55198835:A:G p.(Ile896Val) NC_000007.14:55198835:A:G p.(Ile896Val) NC_000007.14:55198835:A:G Identity +NM_001167614.2:c.1413C>G NP_001161086.1:p.His471Gln NC_000012.12:65171008:C:G p.(His471Gln) NC_000012.12:65171008:C:G p.(His471Gln) NC_000012.12:65171008:C:G Identity +NM_001127892.2:c.1546G>A NP_001121364.1:p.Glu516Lys NC_000016.10:51140384:C:T p.(Glu516Lys) NC_000016.10:51140384:C:T p.(Glu516Lys) NC_000016.10:51140384:C:T Identity +NM_014727.3:c.1240C>G NP_055542.1:p.Pro414Ala NC_000019.10:35720586:C:G p.(Pro414Ala) NC_000019.10:35720586:C:G p.(Pro414Ala) NC_000019.10:35720586:C:G Identity +NM_001040108.2:c.2870G>A NP_001035197.1:p.Ser957Asn NC_000014.9:75046785:C:T p.(Ser957Asn) NC_000014.9:75046785:C:T p.(Ser957Asn) NC_000014.9:75046785:C:T Identity +NM_001167749.3:c.1537A>G NP_001161221.1:p.Ile513Val NC_000001.11:167856339:T:C p.(Ile513Val) NC_000001.11:167856339:T:C p.(Ile513Val) NC_000001.11:167856339:T:C Identity +NM_006269.2:c.2185G>T NP_006260.1:p.Glu729Ter NC_000008.11:54626066:G:T p.(Glu729Ter) NC_000008.11:54626066:G:T p.(Glu729Ter) NC_000008.11:54626066:G:T Identity +NM_025114.4:c.2323A>T NP_079390.3:p.Ser775Cys NC_000012.12:88111245:T:A p.(Ser775Cys) NC_000012.12:88111245:T:A p.(Ser775Cys) NC_000012.12:88111245:T:A Identity +NM_176812.5:c.508G>T NP_789782.1:p.Glu170Ter NC_000020.11:33852100:G:T p.(Glu170Ter) NC_000020.11:33852100:G:T p.(Glu170Ter) NC_000020.11:33852100:G:T Identity +NM_020361.5:c.1037G>T NP_065094.3:p.Cys346Phe NC_000008.11:67434041:C:A p.(Cys346Phe) NC_000008.11:67434041:C:A p.(Cys346Phe) NC_000008.11:67434041:C:A Identity +NM_207361.6:c.5714G>A NP_997244.4:p.Arg1905Lys NC_000013.11:38783141:G:A p.(Arg1905Lys) NC_000013.11:38783141:G:A p.(Arg1905Lys) NC_000013.11:38783141:G:A Identity +NM_001349608.2:c.2935G>A NP_001336537.1:p.Gly979Arg NC_000001.11:7732557:G:A p.(Gly979Arg) NC_000001.11:7732557:G:A p.(Gly979Arg) NC_000001.11:7732557:G:A Identity +NM_001163022.3:c.559G>A NP_001156494.1:p.Asp187Asn NC_000020.11:21162332:G:A p.(Asp187Asn) NC_000020.11:21162332:G:A p.(Asp187Asn) NC_000020.11:21162332:G:A Identity +NM_001282531.3:c.3192G>T NP_001269460.1:p.Trp1064Cys NC_000020.11:50891521:C:A p.(Trp1064Cys) NC_000020.11:50891521:C:A p.(Trp1064Cys) NC_000020.11:50891521:C:A Identity +NM_001321196.2:c.1736T>C NP_001308125.1:p.Phe579Ser NC_000019.10:58498599:A:G p.(Phe579Ser) NC_000019.10:58498599:A:G p.(Phe579Ser) NC_000019.10:58498599:A:G Identity +NM_001143688.3:c.2276G>A NP_001137160.1:p.Arg759His NC_000015.10:66329043:G:A p.(Arg759His) NC_000015.10:66329043:G:A p.(Arg759His) NC_000015.10:66329043:G:A Identity +NM_001197104.2:c.4643_4646dup NP_001184033.1:p.Trp1549Ter NC_000011.10:118490195:AGTG:AGTGAGTG p.(Trp1549Ter) NC_000011.10:118490195:AGTG:AGTGAGTG p.(Trp1549Ter) ERR:SPDI Identity +NM_003620.3:c.1204_1208delAATAG NP_003611.1:p.Asn402Serfs NC_000017.11:60656784:AATAG: ERR:Data provider error: ValueError: Transcript NM_003620.3 not found ERR:Data provider error: ValueError: Transcript NM_003620.3 not found ERR:AlignmentMapper(tx_ac=NM_003620.3, alt_ac=NM_003620.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_003620.3, alt_ac=NM_003620.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_003620.3 not found +NM_001347839.2:c.1556_1559del NP_001334768.1:p.Asp519fs NC_000012.12:45846908:ATAGATAG:ATAG p.(Asp519ValfsTer9) NC_000012.12:45846908:ATAGATAG:ATAG p.(Asp519ValfsTer9) NC_000012.12:45846912:ATAG: Analogous +NM_001135721.3:c.839A>C NP_001129193.1:p.Tyr280Ser NC_000008.11:22287622:A:C p.(Tyr280Ser) NC_000008.11:22287622:A:C p.(Tyr280Ser) NC_000008.11:22287622:A:C Identity +NM_001321525.2:c.146G>A NP_001308454.1:p.Arg49His NC_000002.12:96032063:C:T p.(Arg49His) NC_000002.12:96032063:C:T p.(Arg49His) NC_000002.12:96032063:C:T Identity +NM_206933.4:c.12730A>C NP_996816.3:p.Asn4244His NC_000001.11:215675180:T:G p.(Asn4244His) NC_000001.11:215675180:T:G p.(Asn4244His) NC_000001.11:215675180:T:G Identity +NM_001029883.3:c.668T>C NP_001025054.1:p.Leu223Pro NC_000002.12:29073593:A:G p.(Leu223Pro) NC_000002.12:29073593:A:G p.(Leu223Pro) NC_000002.12:29073593:A:G Identity +NM_000329.3:c.709C>T NP_000320.1:p.Pro237Ser NC_000001.11:68439576:G:A p.(Pro237Ser) NC_000001.11:68439576:G:A p.(Pro237Ser) NC_000001.11:68439576:G:A Identity +NM_005273.4:c.803A>T NP_005264.2:p.Asn268Ile NC_000007.14:100678500:A:T p.(Asn268Ile) NC_000007.14:100678500:A:T p.(Asn268Ile) NC_000007.14:100678500:A:T Identity +NM_001098623.2:c.22300G>A NP_001092093.2:p.Glu7434Lys NC_000001.11:228373077:G:A p.(Glu7434Lys) NC_000001.11:228373077:G:A p.(Glu7434Lys) NC_000001.11:228373077:G:A Identity +NM_020719.3:c.5318C>T NP_065770.1:p.Thr1773Met NC_000019.10:49616039:C:T p.(Thr1773Met) NC_000019.10:49616039:C:T p.(Thr1773Met) NC_000019.10:49616039:C:T Identity +NM_006662.3:c.4954A>G NP_006653.2:p.Thr1652Ala NC_000016.10:30724377:A:G p.(Thr1652Ala) NC_000016.10:30724377:A:G p.(Thr1652Ala) NC_000016.10:30724377:A:G Identity +NM_001205019.2:c.745G>A NP_001191948.1:p.Val249Met NC_000023.11:30697746:G:A p.(Val249Met) NC_000023.11:30697746:G:A p.(Val249Met) NC_000023.11:30697746:G:A Identity +NM_001168271.2:c.643C>T NP_001161743.1:p.Arg215Trp NC_000003.12:120185339:G:A p.(Arg215Trp) NC_000003.12:120185339:G:A p.(Arg215Trp) NC_000003.12:120185339:G:A Identity +NM_001287813.3:c.722C>G NP_001274742.1:p.Thr241Ser NC_000008.11:50553090:C:G p.(Thr241Ser) NC_000008.11:50553090:C:G p.(Thr241Ser) NC_000008.11:50553090:C:G Identity +NM_033225.6:c.7490T>A NP_150094.5:p.Ile2497Asn NC_000008.11:3052631:A:T p.(Ile2497Asn) NC_000008.11:3052631:A:T p.(Ile2497Asn) NC_000008.11:3052631:A:T Identity +NM_001101667.2:c.445A>G NP_001095137.1:p.Arg149Gly NC_000004.12:8414861:T:C p.(Arg149Gly) NC_000004.12:8414861:T:C p.(Arg149Gly) NC_000004.12:8414861:T:C Identity +NM_019593.5:c.1025C>G NP_062539.1:p.Thr342Ser NC_000020.11:5573945:G:C p.(Thr342Ser) NC_000020.11:5573945:G:C p.(Thr342Ser) NC_000020.11:5573945:G:C Identity +NM_001321643.2:c.2120C>T NP_001308572.1:p.Thr707Ile NC_000002.12:11207896:G:A p.(Thr707Ile) NC_000002.12:11207896:G:A p.(Thr707Ile) NC_000002.12:11207896:G:A Identity +NM_017934.7:c.715A>G NP_060404.4:p.Met239Val NC_000006.12:79026049:T:C p.(Met239Val) NC_000006.12:79026049:T:C p.(Met239Val) NC_000006.12:79026049:T:C Identity +NM_001127892.2:c.2347C>G NP_001121364.1:p.Gln783Glu NC_000016.10:51139583:G:C p.(Gln783Glu) NC_000016.10:51139583:G:C p.(Gln783Glu) NC_000016.10:51139583:G:C Identity +NM_001256532.1:c.648T>G NP_001243461.1:p.His216Gln NC_000001.11:155612069:T:G p.(His216Gln) NC_000001.11:155612069:T:G p.(His216Gln) NC_000001.11:155612069:T:G Identity +NM_001381939.1:c.3092C>T NP_001368868.1:p.Pro1031Leu NC_000006.12:169222203:G:A p.(Pro1031Leu) NC_000006.12:169222203:G:A p.(Pro1031Leu) NC_000006.12:169222203:G:A Identity +NM_015384.5:c.2780_2784del NP_056199.2:p.Lys927fs NC_000005.10:36985955:AGTAAAGTA:AGTA p.(Lys927ArgfsTer3) NC_000005.10:36985955:AGTAAAGTA:AGTA p.(Lys927ArgfsTer3) NC_000005.10:36985959:AAGTA: Analogous +NM_001166660.2:c.489G>A NP_001160132.1:p.Met163Ile NC_000023.11:71155244:G:A p.(Met163Ile) NC_000023.11:71155244:G:A p.(Met163Ile) NC_000023.11:71155244:G:A Identity +NM_017514.5:c.4687G>A NP_059984.3:p.Ala1563Thr NC_000023.11:154469470:G:A p.(Ala1563Thr) NC_000023.11:154469470:G:A p.(Ala1563Thr) NC_000023.11:154469470:G:A Identity +NM_017541.4:c.199T>A NP_060011.1:p.Tyr67Asn NC_000003.12:186539419:A:T p.(Tyr67Asn) NC_000003.12:186539419:A:T p.(Tyr67Asn) NC_000003.12:186539419:A:T Identity +NM_001134381.2:c.2078C>A NP_001127853.1:p.Ala693Glu NC_000003.12:17166848:G:T p.(Ala693Glu) NC_000003.12:17166848:G:T p.(Ala693Glu) NC_000003.12:17166848:G:T Identity +NM_004522.3:c.524C>T NP_004513.1:p.Ser175Leu NC_000002.12:148942694:C:T p.(Ser175Leu) NC_000002.12:148942694:C:T p.(Ser175Leu) NC_000002.12:148942694:C:T Identity +NM_001378761.1:c.436A>T NP_001365690.1:p.Ile146Leu NC_000011.10:121053712:A:T p.(Ile146Leu) NC_000011.10:121053712:A:T p.(Ile146Leu) NC_000011.10:121053712:A:T Identity +NM_021153.4:c.2134G>A NP_066976.1:p.Ala712Thr NC_000018.10:66504996:C:T p.(Ala712Thr) NC_000018.10:66504996:C:T p.(Ala712Thr) NC_000018.10:66504996:C:T Identity +NM_004638.4:c.2378_2380del NP_004629.3:p.Gly793del NC_000006.12:31630711:AGGAG:AG p.(Gly793del) NC_000006.12:31630711:AGGAG:AG p.(Gly793del) NC_000006.12:31630713:GAG: Identity +NM_014448.4:c.1735G>A NP_055263.2:p.Val579Met NC_000001.11:3478532:G:A p.(Val579Met) NC_000001.11:3478532:G:A p.(Val579Met) NC_000001.11:3478532:G:A Identity +NM_001160227.2:c.5245T>C NP_001153699.1:p.Ser1749Pro NC_000015.10:44584434:A:G p.(Ser1749Pro) NC_000015.10:44584434:A:G p.(Ser1749Pro) NC_000015.10:44584434:A:G Identity +NM_003107.3:c.418A>C NP_003098.1:p.Asn140His NC_000006.12:21594951:A:C p.(Asn140His) NC_000006.12:21594951:A:C p.(Asn140His) NC_000006.12:21594951:A:C Identity +NM_001394372.1:c.1181C>A NP_001381301.1:p.Pro394Gln NC_000019.10:47680350:C:A p.(Pro394Gln) NC_000019.10:47680350:C:A p.(Pro394Gln) NC_000019.10:47680350:C:A Identity +NM_006133.3:c.380A>G NP_006124.1:p.Asn127Ser NC_000011.10:61722930:A:G p.(Asn127Ser) NC_000011.10:61722930:A:G p.(Asn127Ser) NC_000011.10:61722930:A:G Identity +NM_001287491.2:c.2912A>C NP_001274420.1:p.Lys971Thr NC_000002.12:74089919:A:C p.(Lys971Thr) NC_000002.12:74089919:A:C p.(Lys971Thr) NC_000002.12:74089919:A:C Identity +NM_001146274.2:c.1408G>A NP_001139746.1:p.Val470Ile NC_000010.11:113165570:G:A p.(Val470Ile) NC_000010.11:113165570:G:A p.(Val470Ile) NC_000010.11:113165570:G:A Identity +NM_001141945.3:c.169G>A NP_001135417.1:p.Gly57Ser NC_000010.11:88947346:C:T p.(Gly57Ser) NC_000010.11:88947346:C:T p.(Gly57Ser) NC_000010.11:88947346:C:T Identity +NM_001007026.2:c.2434C>T NP_001007027.1:p.Arg812Cys NC_000012.12:6937983:C:T p.(Arg812Cys) NC_000012.12:6937983:C:T p.(Arg812Cys) NC_000012.12:6937983:C:T Identity +NM_001039348.3:c.607C>T NP_001034437.1:p.Pro203Ser NC_000002.12:55881644:G:A p.(Pro203Ser) NC_000002.12:55881644:G:A p.(Pro203Ser) NC_000002.12:55881644:G:A Identity +NM_005061.3:c.778G>C NP_005052.1:p.Ala260Pro NC_000016.10:1947008:C:G p.(Ala260Pro) NC_000016.10:1947008:C:G p.(Ala260Pro) NC_000016.10:1947008:C:G Identity +NM_000261.2:c.565C>T NP_000252.1:p.Arg189Ter NC_000001.11:171652046:G:A p.(Arg189Ter) NC_000001.11:171652046:G:A p.(Arg189Ter) NC_000001.11:171652046:G:A Identity +NM_001291463.2:c.376G>A NP_001278392.1:p.Gly126Arg NC_000017.11:36260239:C:T p.(Gly126Arg) NC_000017.11:36260239:C:T p.(Gly126Arg) NC_000017.11:36260239:C:T Identity +NM_002608.4:c.478C>T NP_002599.1:p.Arg160Trp NC_000022.11:39230206:G:A p.(Arg160Trp) NC_000022.11:39230206:G:A p.(Arg160Trp) NC_000022.11:39230206:G:A Identity +NM_001384880.1:c.1913A>G NP_001371809.1:p.Asn638Ser NC_000002.12:190976925:T:C p.(Asn638Ser) NC_000002.12:190976925:T:C p.(Asn638Ser) NC_000002.12:190976925:T:C Identity +NM_001321809.2:c.541C>T NP_001308738.1:p.Arg181Trp NC_000014.9:67885956:C:T p.(Arg181Trp) NC_000014.9:67885956:C:T p.(Arg181Trp) NC_000014.9:67885956:C:T Identity +NM_014712.3:c.1547A>G NP_055527.1:p.Asn516Ser NC_000016.10:30965288:A:G p.(Asn516Ser) NC_000016.10:30965288:A:G p.(Asn516Ser) NC_000016.10:30965288:A:G Identity +NM_001304481.2:c.1543C>T NP_001291410.1:p.Leu515Phe NC_000012.12:32611232:C:T p.(Leu515Phe) NC_000012.12:32611232:C:T p.(Leu515Phe) NC_000012.12:32611232:C:T Identity +NM_001366466.2:c.142T>C NP_001353395.1:p.Ser48Pro NC_000003.12:169381419:A:G p.(Ser48Pro) NC_000003.12:169381419:A:G p.(Ser48Pro) NC_000003.12:169381419:A:G Identity +NM_001943.5:c.1404del NP_001934.2:p.Ile469fs NC_000018.10:31535392:G: p.(Ile469LeufsTer31) NC_000018.10:31535392:G: p.(Ile469LeufsTer31) NC_000018.10:31535392:G: Analogous +NM_173354.5:c.572C>T NP_775490.2:p.Ala191Val NC_000021.9:43421294:G:A p.(Ala191Val) NC_000021.9:43421294:G:A p.(Ala191Val) NC_000021.9:43421294:G:A Identity +NM_001244008.2:c.989C>A NP_001230937.1:p.Ala330Asp NC_000002.12:240774230:G:T p.(Ala330Asp) NC_000002.12:240774230:G:T p.(Ala330Asp) NC_000002.12:240774230:G:T Identity +NM_004343.3:c.1194_1196GGA[1] NP_004334.1:p.Glu399del NC_000019.10:12943850:GAGGAGGA:GAGGA ERR:Data provider error: ValueError: Transcript NM_004343.3 not found ERR:Data provider error: ValueError: Transcript NM_004343.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_004343.3 not found +NM_173560.4:c.1568T>A NP_775831.2:p.Leu523Ter NC_000006.12:116924680:T:A p.(Leu523Ter) NC_000006.12:116924680:T:A p.(Leu523Ter) NC_000006.12:116924680:T:A Identity +NM_001256071.3:c.11482T>A NP_001243000.2:p.Phe3828Ile NC_000017.11:80363227:T:A p.(Phe3828Ile) NC_000017.11:80363227:T:A p.(Phe3828Ile) NC_000017.11:80363227:T:A Identity +NM_018128.5:c.1428dup NP_060598.3:p.Gln477fs NC_000017.11:2332236:TTT:TTTT p.(Gln477ThrfsTer11) NC_000017.11:2332236:TTT:TTTT p.(Gln477ThrfsTer11) ERR:SPDI Analogous +NM_001079846.1:c.1003G>A NP_001073315.1:p.Val335Ile NC_000016.10:3793598:C:T p.(Val335Ile) NC_000016.10:3793598:C:T p.(Val335Ile) NC_000016.10:3793598:C:T Identity +NM_018897.3:c.2849T>C NP_061720.2:p.Met950Thr NC_000002.12:195960301:A:G p.(Met950Thr) NC_000002.12:195960301:A:G p.(Met950Thr) NC_000002.12:195960301:A:G Identity +NM_001317195.3:c.461del NP_001304124.1:p.Pro154fs NC_000016.10:68678565:CCCCCC:CCCCC p.(Pro154LeufsTer7) NC_000016.10:68678565:CCCCCC:CCCCC p.(Pro154LeufsTer7) NC_000016.10:68678570:C: Analogous +NM_001384900.1:c.664A>G NP_001371829.1:p.Thr222Ala NC_000007.14:85065477:T:C p.(Thr222Ala) NC_000007.14:85065477:T:C p.(Thr222Ala) NC_000007.14:85065477:T:C Identity +NM_203288.2:c.56G>C NP_976033.1:p.Arg19Pro NC_000007.14:33109316:C:G p.(Arg19Pro) NC_000007.14:33109316:C:G p.(Arg19Pro) NC_000007.14:33109316:C:G Identity +NM_001697.3:c.565A>G NP_001688.1:p.Ile189Val NC_000021.9:33903602:T:C p.(Ile189Val) NC_000021.9:33903602:T:C p.(Ile189Val) NC_000021.9:33903602:T:C Identity +NM_020754.4:c.1729T>C NP_065805.2:p.Ser577Pro NC_000003.12:119409578:T:C p.(Ser577Pro) NC_000003.12:119409578:T:C p.(Ser577Pro) NC_000003.12:119409578:T:C Identity +NM_001008781.3:c.10124A>G NP_001008781.2:p.Gln3375Arg NC_000011.10:92836602:A:G p.(Gln3375Arg) NC_000011.10:92836602:A:G p.(Gln3375Arg) NC_000011.10:92836602:A:G Identity +NM_006269.2:c.3669C>A NP_006260.1:p.Cys1223Ter NC_000008.11:54627550:C:A p.(Cys1223Ter) NC_000008.11:54627550:C:A p.(Cys1223Ter) NC_000008.11:54627550:C:A Identity +NM_000350.3:c.583G>A NP_000341.2:p.Val195Ile NC_000001.11:94098978:C:T p.(Val195Ile) NC_000001.11:94098978:C:T p.(Val195Ile) NC_000001.11:94098978:C:T Identity +NM_001407571.1:c.1918A>T NP_001394500.1:p.Lys640Ter NC_000017.11:43093399:T:A p.(Lys640Ter) NC_000017.11:43093399:T:A p.(Lys640Ter) NC_000017.11:43093399:T:A Identity +NM_016247.4:c.198_201dup NP_057331.2:p.Arg68fs NC_000003.12:101319716:GTCC:GTCCGTCC p.(Arg68GlyfsTer6) NC_000003.12:101319716:GTCC:GTCCGTCC p.(Arg68GlyfsTer6) ERR:SPDI Analogous +NM_001195794.1:c.454A>G NP_001182723.1:p.Thr152Ala NC_000003.12:150940498:T:C p.(Thr152Ala) NC_000003.12:150940498:T:C p.(Thr152Ala) NC_000003.12:150940498:T:C Identity +NM_001377456.1:c.792G>A NP_001364385.1:p.Trp264Ter NC_000016.10:56505961:C:T p.(Trp264Ter) NC_000016.10:56505961:C:T p.(Trp264Ter) NC_000016.10:56505961:C:T Identity +NM_001177562.2:c.1648A>G NP_001171033.1:p.Ile550Val NC_000011.10:111742058:T:C p.(Ile550Val) NC_000011.10:111742058:T:C p.(Ile550Val) NC_000011.10:111742058:T:C Identity +NM_001290259.2:c.2598G>T NP_001277188.1:p.Lys866Asn NC_000006.12:63698484:G:T p.(Lys866Asn) NC_000006.12:63698484:G:T p.(Lys866Asn) NC_000006.12:63698484:G:T Identity +NM_000350.3:c.5423C>G NP_000341.2:p.Ala1808Gly NC_000001.11:94014579:G:C p.(Ala1808Gly) NC_000001.11:94014579:G:C p.(Ala1808Gly) NC_000001.11:94014579:G:C Identity +NM_001034853.2:c.2316del NP_001030025.1:p.Gly773fs NC_000023.11:38286682:TT:T p.(Gly773GlufsTer42) NC_000023.11:38286682:TT:T p.(Gly773GlufsTer42) NC_000023.11:38286682:T: Analogous +NM_001377456.1:c.1276G>T NP_001364385.1:p.Glu426Ter NC_000016.10:56500974:C:A p.(Glu426Ter) NC_000016.10:56500974:C:A p.(Glu426Ter) NC_000016.10:56500974:C:A Identity +NM_014003.4:c.601C>T NP_054722.2:p.Arg201Ter NC_000016.10:72097765:C:T p.(Arg201Ter) NC_000016.10:72097765:C:T p.(Arg201Ter) NC_000016.10:72097765:C:T Identity +NM_006445.4:c.3613G>A NP_006436.3:p.Glu1205Lys NC_000017.11:1673400:C:T p.(Glu1205Lys) NC_000017.11:1673400:C:T p.(Glu1205Lys) NC_000017.11:1673400:C:T Identity +NM_024734.4:c.1550G>A NP_079010.2:p.Arg517His NC_000014.9:95203798:C:T p.(Arg517His) NC_000014.9:95203798:C:T p.(Arg517His) NC_000014.9:95203798:C:T Identity +NM_005173.4:c.2021G>A NP_005164.2:p.Arg674His NC_000017.11:3941049:C:T p.(Arg674His) NC_000017.11:3941049:C:T p.(Arg674His) NC_000017.11:3941049:C:T Identity +NM_206933.4:c.10157A>C NP_996816.3:p.Lys3386Thr NC_000001.11:215790083:T:G p.(Lys3386Thr) NC_000001.11:215790083:T:G p.(Lys3386Thr) NC_000001.11:215790083:T:G Identity +NM_007123.6:c.2866A>G NP_009054.6:p.Thr956Ala NC_000001.11:216232079:T:C p.(Thr956Ala) NC_000001.11:216232079:T:C p.(Thr956Ala) NC_000001.11:216232079:T:C Identity +NM_001035506.1:c.1799G>C NP_001030583.1:p.Ser600Thr NC_000002.12:27058526:G:C ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001035506.1, alt_ac=NM_001035506.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001035506.1 not found +NM_018897.3:c.5215G>A NP_061720.2:p.Ala1739Thr NC_000002.12:195888812:C:T p.(Ala1739Thr) NC_000002.12:195888812:C:T p.(Ala1739Thr) NC_000002.12:195888812:C:T Identity +NM_001244808.3:c.787G>C NP_001231737.1:p.Ala263Pro NC_000003.12:71041409:C:G p.(Ala263Pro) NC_000003.12:71041409:C:G p.(Ala263Pro) NC_000003.12:71041409:C:G Identity +NM_001139441.1:c.703G>A NP_001132913.1:p.Ala235Thr NC_000023.11:153700974:C:T p.(Ala235Thr) NC_000023.11:153700974:C:T p.(Ala235Thr) NC_000023.11:153700974:C:T Identity +NM_012183.3:c.266G>A NP_036315.1:p.Gly89Glu NC_000001.11:63323323:G:A p.(Gly89Glu) NC_000001.11:63323323:G:A p.(Gly89Glu) NC_000001.11:63323323:G:A Identity +NM_001257180.2:c.176C>A NP_001244109.1:p.Ser59Tyr NC_000008.11:42472214:G:T p.(Ser59Tyr) NC_000008.11:42472214:G:T p.(Ser59Tyr) NC_000008.11:42472214:G:T Identity +NM_001253723.2:c.586del NP_001240652.1:p.Glu196fs NC_000002.12:26927414:GGGG:GGG p.(Glu196SerfsTer83) NC_000002.12:26927414:GGGG:GGG p.(Glu196SerfsTer83) NC_000002.12:26927417:G: Analogous +NM_001194946.2:c.3563C>A NP_001181875.2:p.Ala1188Asp NC_000003.12:184327328:C:A p.(Ala1188Asp) NC_000003.12:184327328:C:A p.(Ala1188Asp) NC_000003.12:184327328:C:A Identity +NM_017514.5:c.272C>T NP_059984.3:p.Ala91Val NC_000023.11:154460454:C:T p.(Ala91Val) NC_000023.11:154460454:C:T p.(Ala91Val) NC_000023.11:154460454:C:T Identity +NM_001386500.1:c.5849G>A NP_001373429.1:p.Arg1950Lys NC_000001.11:11128514:C:T p.(Arg1950Lys) NC_000001.11:11128514:C:T p.(Arg1950Lys) NC_000001.11:11128514:C:T Identity +NM_031407.7:c.8807C>G NP_113584.3:p.Ser2936Cys NC_000023.11:53552384:G:C p.(Ser2936Cys) NC_000023.11:53552384:G:C p.(Ser2936Cys) NC_000023.11:53552384:G:C Identity +NM_001305878.2:c.1172A>C NP_001292807.1:p.Asp391Ala NC_000008.11:41977198:T:G p.(Asp391Ala) NC_000008.11:41977198:T:G p.(Asp391Ala) NC_000008.11:41977198:T:G Identity +NM_015180.6:c.4838A>G NP_055995.4:p.Glu1613Gly NC_000014.9:64016581:A:G p.(Glu1613Gly) NC_000014.9:64016581:A:G p.(Glu1613Gly) NC_000014.9:64016581:A:G Identity +NM_000799.4:c.439T>C NP_000790.2:p.Ser147Pro NC_000007.14:100722989:T:C p.(Ser147Pro) NC_000007.14:100722989:T:C p.(Ser147Pro) NC_000007.14:100722989:T:C Identity +NM_001105206.3:c.5067_5068del NP_001098676.2:p.His1689fs NC_000006.12:112115906:TGTG:TG p.(His1689GlnfsTer22) NC_000006.12:112115906:TGTG:TG p.(His1689GlnfsTer22) NC_000006.12:112115906:TG: Analogous +NM_000424.4:c.1754G>A NP_000415.2:p.Arg585Gln NC_000012.12:52514960:C:T p.(Arg585Gln) NC_000012.12:52514960:C:T p.(Arg585Gln) NC_000012.12:52514960:C:T Identity +NM_000443.4:c.1136G>C NP_000434.1:p.Ser379Thr NC_000007.14:87443756:C:G p.(Ser379Thr) NC_000007.14:87443756:C:G p.(Ser379Thr) NC_000007.14:87443756:C:G Identity +NM_001080479.3:c.3695A>G NP_001073948.2:p.Tyr1232Cys NC_000005.10:73894428:A:G p.(Tyr1232Cys) NC_000005.10:73894428:A:G p.(Tyr1232Cys) NC_000005.10:73894428:A:G Identity +NM_017514.5:c.697G>A NP_059984.3:p.Ala233Thr NC_000023.11:154461200:G:A p.(Ala233Thr) NC_000023.11:154461200:G:A p.(Ala233Thr) NC_000023.11:154461200:G:A Identity +NM_025179.4:c.2896G>A NP_079455.3:p.Glu966Lys NC_000001.11:208052423:C:T p.(Glu966Lys) NC_000001.11:208052423:C:T p.(Glu966Lys) NC_000001.11:208052423:C:T Identity +NM_024408.4:c.5615A>G NP_077719.2:p.Gln1872Arg NC_000001.11:119919477:T:C p.(Gln1872Arg) NC_000001.11:119919477:T:C p.(Gln1872Arg) NC_000001.11:119919477:T:C Identity +NM_000168.6:c.1382T>C NP_000159.3:p.Val461Ala NC_000007.14:42023582:A:G p.(Val461Ala) NC_000007.14:42023582:A:G p.(Val461Ala) NC_000007.14:42023582:A:G Identity +NM_177938.2:c.677G>A NP_808807.2:p.Ser226Asn NC_000003.12:49002548:G:A p.(Ser226Asn) NC_000003.12:49002548:G:A p.(Ser226Asn) NC_000003.12:49002548:G:A Identity +NM_001353684.2:c.119G>A NP_001340613.1:p.Arg40His NC_000021.9:31154397:C:T p.(Arg40His) NC_000021.9:31154397:C:T p.(Arg40His) NC_000021.9:31154397:C:T Identity +NM_001350162.2:c.1868A>G NP_001337091.1:p.Asn623Ser NC_000008.11:30848298:T:C p.(Asn623Ser) NC_000008.11:30848298:T:C p.(Asn623Ser) NC_000008.11:30848298:T:C Identity +NM_001003406.2:c.3452C>A NP_001003406.1:p.Thr1151Asn NC_000022.11:39663800:C:A p.(Thr1151Asn) NC_000022.11:39663800:C:A p.(Thr1151Asn) NC_000022.11:39663800:C:A Identity +NM_006469.5:c.934T>C NP_006460.2:p.Phe312Leu NC_000001.11:185301157:A:G p.(Phe312Leu) NC_000001.11:185301157:A:G p.(Phe312Leu) NC_000001.11:185301157:A:G Identity +NM_001324236.2:c.288G>C NP_001311165.1:p.Trp96Cys NC_000020.11:3223501:G:C p.(Trp96Cys) NC_000020.11:3223501:G:C p.(Trp96Cys) NC_000020.11:3223501:G:C Identity +NM_004714.3:c.1784G>A NP_004705.1:p.Arg595Gln NC_000019.10:39825820:C:T p.(Arg595Gln) NC_000019.10:39825820:C:T p.(Arg595Gln) NC_000019.10:39825820:C:T Identity +NM_001077261.4:c.155A>G NP_001070729.2:p.His52Arg NC_000012.12:124486518:T:C p.(His52Arg) NC_000012.12:124486518:T:C p.(His52Arg) NC_000012.12:124486518:T:C Identity +NM_178857.6:c.3457A>C NP_849188.4:p.Ile1153Leu NC_000008.11:10610640:T:G p.(Ile1153Leu) NC_000008.11:10610640:T:G p.(Ile1153Leu) NC_000008.11:10610640:T:G Identity +NM_000425.5:c.2219G>A NP_000416.1:p.Trp740Ter NC_000023.11:153866860:C:T p.(Trp740Ter) NC_000023.11:153866860:C:T p.(Trp740Ter) NC_000023.11:153866860:C:T Identity +NM_198514.4:c.853G>A NP_940916.2:p.Ala285Thr NC_000010.11:113879638:G:A p.(Ala285Thr) NC_000010.11:113879638:G:A p.(Ala285Thr) NC_000010.11:113879638:G:A Identity +NM_001378454.1:c.4323G>T NP_001365383.1:p.Gln1441His NC_000002.12:73450849:G:T p.(Gln1441His) NC_000002.12:73450849:G:T p.(Gln1441His) NC_000002.12:73450849:G:T Identity +NM_005523.6:c.295G>A NP_005514.1:p.Ala99Thr NC_000007.14:27184849:C:T p.(Ala99Thr) NC_000007.14:27184849:C:T p.(Ala99Thr) NC_000007.14:27184849:C:T Identity +NM_001362843.2:c.1594A>G NP_001349772.1:p.Met532Val NC_000022.11:41135877:A:G p.(Met532Val) NC_000022.11:41135877:A:G p.(Met532Val) NC_000022.11:41135877:A:G Identity +NM_003972.3:c.5075G>A NP_003963.1:p.Arg1692Gln NC_000010.11:92024966:G:A p.(Arg1692Gln) NC_000010.11:92024966:G:A p.(Arg1692Gln) NC_000010.11:92024966:G:A Identity +NM_201284.2:c.2060G>T NP_958441.1:p.Ser687Ile NC_000007.14:55170485:G:T p.(Ser687Ile) NC_000007.14:55170485:G:T p.(Ser687Ile) NC_000007.14:55170485:G:T Identity +NM_001278517.2:c.440T>C NP_001265446.1:p.Val147Ala NC_000001.11:204544595:T:C p.(Val147Ala) NC_000001.11:204544595:T:C p.(Val147Ala) NC_000001.11:204544595:T:C Identity +NM_172246.4:c.1073G>A NP_758449.1:p.Arg358Gln NC_000024.10:1309527:G:A p.(Arg358Gln) NC_000023.11:1309527:G:A p.(Arg358Gln) ERR:CDS is undefined for NM_172246.4; this accession appears to be for a non-coding transcript Identity +NM_001130414.1:c.170C>T NP_001123886.1:p.Ala57Val NC_000015.10:29054053:C:T p.(Ala57Val) NC_000015.10:29054053:C:T p.(Ala57Val) NC_000015.10:29054053:C:T Identity +NM_001282624.2:c.95C>T NP_001269553.1:p.Ala32Val NC_000001.11:156126896:C:T p.(Ala32Val) NC_000001.11:156126896:C:T p.(Ala32Val) NC_000001.11:156126896:C:T Identity +NM_032242.4:c.5633G>A NP_115618.3:p.Arg1878Gln NC_000003.12:127033958:G:A p.(Arg1878Gln) NC_000003.12:127033958:G:A p.(Arg1878Gln) NC_000003.12:127033958:G:A Identity +NM_020340.5:c.1472C>T NP_065073.3:p.Thr491Met NC_000006.12:138262954:C:T p.(Thr491Met) NC_000006.12:138262954:C:T p.(Thr491Met) NC_000006.12:138262954:C:T Identity +NM_001171933.1:c.2483C>T NP_001165404.1:p.Ala828Val NC_000010.11:71811514:C:T p.(Ala828Val) NC_000010.11:71811514:C:T p.(Ala828Val) NC_000010.11:71811514:C:T Identity +NM_000296.4:c.6671C>T NP_000287.4:p.Pro2224Leu NC_000016.10:2108495:G:A p.(Pro2224Leu) NC_000016.10:2108495:G:A p.(Pro2224Leu) NC_000016.10:2108495:G:A Identity +NM_001329126.2:c.5998G>A NP_001316055.1:p.Val2000Ile NC_000003.12:132523635:G:A p.(Val2000Ile) NC_000003.12:132523635:G:A p.(Val2000Ile) NC_000003.12:132523635:G:A Identity +NM_000383.4:c.1521C>G NP_000374.1:p.His507Gln NC_000021.9:44296399:C:G p.(His507Gln) NC_000021.9:44296399:C:G p.(His507Gln) NC_000021.9:44296399:C:G Identity +NM_001142273.2:c.3413A>T NP_001135745.1:p.Gln1138Leu NC_000002.12:121377550:T:A p.(Gln1138Leu) NC_000002.12:121377550:T:A p.(Gln1138Leu) NC_000002.12:121377550:T:A Identity +NM_178140.4:c.3533A>G NP_835260.2:p.Glu1178Gly NC_000005.10:32074638:A:G p.(Glu1178Gly) NC_000005.10:32074638:A:G p.(Glu1178Gly) NC_000005.10:32074638:A:G Identity +NM_001110556.2:c.4350G>C NP_001104026.1:p.Lys1450Asn NC_000023.11:154359107:C:G p.(Lys1450Asn) NC_000023.11:154359107:C:G p.(Lys1450Asn) NC_000023.11:154359107:C:G Identity +NM_001401501.2:c.39328G>A NP_001388430.1:p.Gly13110Ser NC_000019.10:8898654:C:T p.(Gly13110Ser) NC_000019.10:8898654:C:T p.(Gly13110Ser) NC_000019.10:8898654:C:T Identity +NM_173651.4:c.20189C>T NP_775922.3:p.Thr6730Ile NC_000002.12:185813905:C:T p.(Thr6730Ile) NC_000002.12:185813905:C:T p.(Thr6730Ile) NC_000002.12:185813905:C:T Identity +NM_001164766.2:c.2728C>G NP_001158238.1:p.Leu910Val NC_000016.10:72797211:G:C p.(Leu910Val) NC_000016.10:72797211:G:C p.(Leu910Val) NC_000016.10:72797211:G:C Identity +NM_001413634.1:c.856C>T NP_001400563.1:p.Arg286Cys NC_000012.12:108899418:C:T p.(Arg286Cys) NC_000012.12:108899418:C:T p.(Arg286Cys) NC_000012.12:108899418:C:T Identity +NM_001401501.2:c.1391C>T NP_001388430.1:p.Thr464Met NC_000019.10:8979867:G:A p.(Thr464Met) NC_000019.10:8979867:G:A p.(Thr464Met) NC_000019.10:8979867:G:A Identity +NM_001297755.2:c.224T>A NP_001284684.2:p.Leu75His NC_000004.12:83455469:A:T p.(Leu75His) NC_000004.12:83455469:A:T p.(Leu75His) NC_000004.12:83455469:A:T Identity +NM_007192.4:c.1087A>G NP_009123.1:p.Ile363Val NC_000014.9:21365102:T:C p.(Ile363Val) NC_000014.9:21365102:T:C p.(Ile363Val) NC_000014.9:21365102:T:C Identity +NM_000299.4:c.1271C>A NP_000290.2:p.Pro424Gln NC_000001.11:201319853:C:A p.(Pro424Gln) NC_000001.11:201319853:C:A p.(Pro424Gln) NC_000001.11:201319853:C:A Identity +NM_001320634.1:c.4A>C NP_001307563.1:p.Met2Leu NC_000002.12:127081839:T:G p.(Met2Leu) NC_000002.12:127081839:T:G p.(Met2Leu) NC_000002.12:127081839:T:G Identity +NM_018128.5:c.803TGG[1] NP_060598.3:p.Val269del NC_000017.11:2334644:CCACCA:CCA p.(Val269del) NC_000017.11:2334649:A:CCA ERR:Parse ERR:Parse Identity +NM_001401501.2:c.38339G>A NP_001388430.1:p.Cys12780Tyr NC_000019.10:8904993:C:T p.(Cys12780Tyr) NC_000019.10:8904993:C:T p.(Cys12780Tyr) NC_000019.10:8904993:C:T Identity +NM_001077188.2:c.1531G>A NP_001070656.1:p.Glu511Lys NC_000023.11:132628629:C:T p.(Glu511Lys) NC_000023.11:132628629:C:T p.(Glu511Lys) NC_000023.11:132628629:C:T Identity +NM_001631.5:c.58G>A NP_001622.2:p.Val20Ile NC_000002.12:232456256:G:A p.(Val20Ile) NC_000002.12:232456256:G:A p.(Val20Ile) NC_000002.12:232456256:G:A Identity +NM_080927.4:c.1162G>A NP_563615.3:p.Asp388Asn NC_000003.12:98817818:C:T p.(Asp388Asn) NC_000003.12:98817818:C:T p.(Asp388Asn) NC_000003.12:98817818:C:T Identity +NM_001308022.2:c.3554G>A NP_001294951.1:p.Arg1185Gln NC_000002.12:217818426:C:T p.(Arg1185Gln) NC_000002.12:217818426:C:T p.(Arg1185Gln) NC_000002.12:217818426:C:T Identity +NM_007212.4:c.995C>A NP_009143.1:p.Thr332Lys NC_000001.11:185100284:C:A p.(Thr332Lys) NC_000001.11:185100284:C:A p.(Thr332Lys) NC_000001.11:185100284:C:A Identity +NM_001819.3:c.689A>G NP_001810.2:p.His230Arg NC_000020.11:5922832:A:G p.(His230Arg) NC_000020.11:5922832:A:G p.(His230Arg) NC_000020.11:5922832:A:G Identity +NM_001287347.2:c.310G>T NP_001274276.1:p.Ala104Ser NC_000001.11:47225578:C:A p.(Ala104Ser) NC_000001.11:47225578:C:A p.(Ala104Ser) NC_000001.11:47225578:C:A Identity +NM_001401501.2:c.44498G>A NP_001388430.1:p.Arg14833Gln NC_000019.10:8871626:C:T ERR:Validation error: Coordinate out of bounds: index 44550 is beyond transcript length 43887 ERR:Validation error: Transcript position out of exon bounds ERR:c.44498 coordinate is out of bounds ERR:c.44498 coordinate is out of bounds Unknown +NM_001077261.4:c.313A>G NP_001070729.2:p.Ser105Gly NC_000012.12:124483693:T:C p.(Ser105Gly) NC_000012.12:124483693:T:C p.(Ser105Gly) NC_000012.12:124483693:T:C Identity +NM_001080527.2:c.4891G>A NP_001073996.1:p.Val1631Met NC_000002.12:127631236:G:A p.(Val1631Met) NC_000002.12:127631236:G:A p.(Val1631Met) NC_000002.12:127631236:G:A Identity +NM_001014447.3:c.1787G>A NP_001014447.2:p.Arg596Gln NC_000004.12:8619444:G:A p.(Arg596Gln) NC_000004.12:8619444:G:A p.(Arg596Gln) NC_000004.12:8619444:G:A Identity +NM_018557.3:c.6655C>T NP_061027.2:p.Arg2219Cys NC_000002.12:140700393:G:A p.(Arg2219Cys) NC_000002.12:140700393:G:A p.(Arg2219Cys) NC_000002.12:140700393:G:A Identity +NM_033400.3:c.910A>T NP_207646.2:p.Ile304Leu NC_000014.9:23534415:T:A p.(Ile304Leu) NC_000014.9:23534415:T:A p.(Ile304Leu) NC_000014.9:23534415:T:A Identity +NM_001647.4:c.383A>G NP_001638.1:p.Tyr128Cys NC_000003.12:195569086:T:C p.(Tyr128Cys) NC_000003.12:195569086:T:C p.(Tyr128Cys) NC_000003.12:195569086:T:C Identity +NM_024857.5:c.5300A>G NP_079133.3:p.Asn1767Ser NC_000017.11:30894565:A:G p.(Asn1767Ser) NC_000017.11:30894565:A:G p.(Asn1767Ser) NC_000017.11:30894565:A:G Identity +NM_033239.3:c.2098G>A NP_150242.1:p.Gly700Arg NC_000015.10:74035558:G:A p.(Gly700Arg) NC_000015.10:74035558:G:A p.(Gly700Arg) NC_000015.10:74035558:G:A Identity +NM_001201427.2:c.515G>A NP_001188356.1:p.Arg172His NC_000006.12:39867595:G:A p.(Arg172His) NC_000006.12:39867595:G:A p.(Arg172His) NC_000006.12:39867595:G:A Identity +NM_001379226.1:c.3425C>T NP_001366155.1:p.Ser1142Phe NC_000011.10:70485730:G:A p.(Ser1142Phe) NC_000011.10:70485730:G:A p.(Ser1142Phe) NC_000011.10:70485730:G:A Identity +NM_001174081.3:c.72C>G NP_001167552.1:p.Ser24Arg NC_000019.10:54970086:C:G p.(Ser24Arg) NC_000019.10:54970086:C:G p.(Ser24Arg) NC_000019.10:54970086:C:G Identity +NM_144651.5:c.1330G>A NP_653252.4:p.Gly444Ser NC_000008.11:51449037:C:T p.(Gly444Ser) NC_000008.11:51449037:C:T p.(Gly444Ser) NC_000008.11:51449037:C:T Identity +NM_001855.5:c.3934A>C NP_001846.3:p.Ile1312Leu NC_000009.12:99068650:A:C p.(Ile1312Leu) NC_000009.12:99068650:A:C p.(Ile1312Leu) NC_000009.12:99068650:A:C Identity +NM_199420.4:c.913T>G NP_955452.3:p.Ser305Ala NC_000003.12:121533036:A:C p.(Ser305Ala) NC_000003.12:121533036:A:C p.(Ser305Ala) NC_000003.12:121533036:A:C Identity +NM_000296.4:c.2813C>T NP_000287.4:p.Thr938Met NC_000016.10:2114209:G:A p.(Thr938Met) NC_000016.10:2114209:G:A p.(Thr938Met) NC_000016.10:2114209:G:A Identity +NM_001362843.2:c.3673G>A NP_001349772.1:p.Gly1225Arg NC_000022.11:41164074:G:A p.(Gly1225Arg) NC_000022.11:41164074:G:A p.(Gly1225Arg) NC_000022.11:41164074:G:A Identity +NM_001110.4:c.502G>A NP_001101.1:p.Gly168Ser NC_000015.10:58665179:C:T p.(Gly168Ser) NC_000015.10:58665179:C:T p.(Gly168Ser) NC_000015.10:58665179:C:T Identity +NM_012471.3:c.2071C>T NP_036603.1:p.Arg691Trp NC_000023.11:111781963:G:A p.(Arg691Trp) NC_000023.11:111781963:G:A p.(Arg691Trp) NC_000023.11:111781963:G:A Identity +NM_018963.5:c.3104T>C NP_061836.2:p.Met1035Thr NC_000021.9:39229332:A:G p.(Met1035Thr) NC_000021.9:39229332:A:G p.(Met1035Thr) NC_000021.9:39229332:A:G Identity +NM_001390830.1:c.2735G>A NP_001377759.1:p.Arg912His NC_000012.12:48771866:C:T p.(Arg912His) NC_000012.12:48771866:C:T p.(Arg912His) NC_000012.12:48771866:C:T Identity +NM_001007026.2:c.644C>T NP_001007027.1:p.Pro215Leu NC_000012.12:6935910:C:T p.(Pro215Leu) NC_000012.12:6935910:C:T p.(Pro215Leu) NC_000012.12:6935910:C:T Identity +NM_001363597.2:c.985G>C NP_001350526.1:p.Glu329Gln NC_000011.10:74634677:G:C p.(Glu329Gln) NC_000011.10:74634677:G:C p.(Glu329Gln) NC_000011.10:74634677:G:C Identity +NM_001365923.2:c.208A>G NP_001352852.1:p.Asn70Asp NC_000003.12:173604805:A:G p.(Asn70Asp) NC_000003.12:173604805:A:G p.(Asn70Asp) NC_000003.12:173604805:A:G Identity +NM_031497.2:c.2455A>G NP_113685.1:p.Thr819Ala NC_000005.10:140803651:A:G p.(Thr819Ala) NC_000005.10:140803651:A:G p.(Thr819Ala) NC_000005.10:140803651:A:G Identity +NM_003140.3:c.294G>A NP_003131.1:p.Trp98Ter NC_000024.10:2787309:C:T p.(Trp98Ter) NC_000024.10:2787309:C:T p.(Trp98Ter) NC_000024.10:2787309:C:T Identity +NM_001277313.2:c.401A>C NP_001264242.1:p.Gln134Pro NC_000015.10:33154513:T:G p.(Gln134Pro) NC_000015.10:33154513:T:G p.(Gln134Pro) NC_000015.10:33154513:T:G Identity +NM_001370528.1:c.2204G>C NP_001357457.1:p.Ser735Thr NC_000003.12:64099381:C:G p.(Ser735Thr) NC_000003.12:64099381:C:G p.(Ser735Thr) NC_000003.12:64099381:C:G Identity +NM_144651.5:c.281T>C NP_653252.4:p.Phe94Ser NC_000008.11:51592653:A:G p.(Phe94Ser) NC_000008.11:51592653:A:G p.(Phe94Ser) NC_000008.11:51592653:A:G Identity +NM_001201538.2:c.535C>T NP_001188467.1:p.Arg179Cys NC_000023.11:3084370:C:T p.(Arg179Cys) NC_000023.11:3084370:C:T p.(Arg179Cys) NC_000023.11:3084370:C:T Identity +NM_015356.5:c.4273G>A NP_056171.3:p.Glu1425Lys NC_000008.11:143792539:C:T p.(Glu1425Lys) NC_000008.11:143792539:C:T p.(Glu1425Lys) NC_000008.11:143792539:C:T Identity +NM_001105250.3:c.19G>A NP_001098720.1:p.Ala7Thr NC_000014.9:79280309:G:A p.(Ala7Thr) NC_000014.9:79280309:G:A p.(Ala7Thr) NC_000014.9:79280309:G:A Identity +NM_001286563.3:c.1861G>C NP_001273492.1:p.Gly621Arg NC_000011.10:123614785:G:C p.(Gly621Arg) NC_000011.10:123614785:G:C p.(Gly621Arg) NC_000011.10:123614785:G:C Identity +NM_001358235.2:c.9054A>T NP_001345164.1:p.Arg3018Ser NC_000004.12:154235597:T:A p.(Arg3018Ser) NC_000004.12:154235597:T:A p.(Arg3018Ser) NC_000004.12:154235597:T:A Identity +NM_001307985.2:c.5C>T NP_001294914.1:p.Ala2Val NC_000011.10:64556003:C:T p.(Ala2Val) NC_000011.10:64556003:C:T p.(Ala2Val) NC_000011.10:64556003:C:T Identity +NM_001290321.3:c.7205A>C NP_001277250.1:p.Glu2402Ala NC_000005.10:119189776:A:C p.(Glu2402Ala) NC_000005.10:119189776:A:C p.(Glu2402Ala) NC_000005.10:119189776:A:C Identity +NM_001258314.3:c.2T>G NP_001245243.1:p.Met1Arg NC_000002.12:182241912:A:C p.(Met1Arg) NC_000002.12:182241912:A:C p.Met1? NC_000002.12:182241912:A:C Identity +NM_003482.4:c.2849C>T NP_003473.3:p.Ala950Val NC_000012.12:49050738:G:A p.(Ala950Val) NC_000012.12:49050738:G:A p.(Ala950Val) NC_000012.12:49050738:G:A Identity +NM_024408.4:c.5924A>C NP_077719.2:p.Asp1975Ala NC_000001.11:119918410:T:G p.(Asp1975Ala) NC_000001.11:119918410:T:G p.(Asp1975Ala) NC_000001.11:119918410:T:G Identity +NM_005392.4:c.1439C>T NP_005383.3:p.Pro480Leu NC_000009.12:93660300:C:T p.(Pro480Leu) NC_000009.12:93660300:C:T p.(Pro480Leu) NC_000009.12:93660300:C:T Identity +NM_000168.6:c.1991C>A NP_000159.3:p.Ser664Ter NC_000007.14:41972448:G:T p.(Ser664Ter) NC_000007.14:41972448:G:T p.(Ser664Ter) NC_000007.14:41972448:G:T Identity +NM_001365116.2:c.1945G>A NP_001352045.1:p.Val649Ile NC_000003.12:46995946:G:A p.(Val649Ile) NC_000003.12:46995946:G:A p.(Val649Ile) NC_000003.12:46995946:G:A Identity +NM_000297.4:c.2548dup NP_000288.1:p.Glu850fs NC_000004.12:88074835:GG:GGG p.(Glu850GlyfsTer12) NC_000004.12:88074835:GG:GGG p.(Glu850GlyfsTer12) ERR:SPDI Analogous +NM_001042517.2:c.927del NP_001035982.1:p.Ala310fs NC_000013.11:60008630:TT:T p.(Ala310LeufsTer2) NC_000013.11:60008630:TT:T p.(Ala310LeufsTer2) NC_000013.11:60008630:T: Analogous +NM_001306076.1:c.1343T>C NP_001293005.1:p.Leu448Pro NC_000001.11:93212108:T:C p.(Leu448Pro) NC_000001.11:93212108:T:C p.(Leu448Pro) NC_000001.11:93212108:T:C Identity +NM_006950.3:c.1930G>A NP_008881.2:p.Val644Met NC_000023.11:47574053:C:T p.(Val644Met) NC_000023.11:47574053:C:T p.(Val644Met) NC_000023.11:47574053:C:T Identity +NM_152309.3:c.1621_1622delinsCT NP_689522.2:p.Ala541Leu NC_000010.11:96626754:GC:AG p.(Ala541Leu) NC_000010.11:96626754:GC:AG p.(Ala541Leu) NC_000010.11:96626754:GC:AG Identity +NM_012387.3:c.491T>C NP_036519.2:p.Met164Thr NC_000001.11:17338119:T:C p.(Met164Thr) NC_000001.11:17338119:T:C p.(Met164Thr) NC_000001.11:17338119:T:C Identity +NM_001350162.2:c.7540G>A NP_001337091.1:p.Ala2514Thr NC_000008.11:30842626:C:T p.(Ala2514Thr) NC_000008.11:30842626:C:T p.(Ala2514Thr) NC_000008.11:30842626:C:T Identity +NM_001401501.2:c.31942C>T NP_001388430.1:p.Pro10648Ser NC_000019.10:8939132:G:A p.(Pro10648Ser) NC_000019.10:8939132:G:A p.(Pro10648Ser) NC_000019.10:8939132:G:A Identity +NM_133369.3:c.2317C>T NP_588610.2:p.Arg773Trp NC_000005.10:176879441:C:T p.(Arg773Trp) NC_000005.10:176879441:C:T p.(Arg773Trp) NC_000005.10:176879441:C:T Identity +NM_001303456.1:c.614A>C NP_001290385.1:p.Lys205Thr NC_000001.11:145826990:A:C p.(Lys205Thr) NC_000001.11:145826990:A:C p.(Lys205Thr) NC_000001.11:145826990:A:C Identity +NM_001130065.2:c.4217C>T NP_001123537.1:p.Pro1406Leu NC_000019.10:17198286:C:T p.(Pro1406Leu) NC_000019.10:17198286:C:T p.(Pro1406Leu) NC_000019.10:17198286:C:T Identity +NM_139285.4:c.2591C>T NP_644814.1:p.Pro864Leu NC_000017.11:35744905:G:A p.(Pro864Leu) NC_000017.11:35744905:G:A p.(Pro864Leu) NC_000017.11:35744905:G:A Identity +NM_001287742.2:c.1067C>G NP_001274671.1:p.Ser356Cys NC_000008.11:11838421:C:G p.(Ser356Cys) NC_000008.11:11838421:C:G p.(Ser356Cys) NC_000008.11:11838421:C:G Identity +NM_002114.4:c.7202T>C NP_002105.3:p.Val2401Ala NC_000006.12:12163505:T:C p.(Val2401Ala) NC_000006.12:12163505:T:C p.(Val2401Ala) NC_000006.12:12163505:T:C Identity +NM_014712.3:c.4135AGC[4] NP_055527.1:p.Ser1383del NC_000016.10:30979919:CAGCAGCAGCAGCAGC:CAGCAGCAGCAGC p.(Ser1383del) NC_000016.10:30979920:A:AGCAGCAGCAGC ERR:Parse ERR:Parse Identity +NM_001251902.3:c.1382G>A NP_001238831.1:p.Arg461Gln NC_000017.11:7387123:G:A p.(Arg461Gln) NC_000017.11:7387123:G:A p.(Arg461Gln) NC_000017.11:7387123:G:A Identity +NM_001111018.2:c.3199G>A NP_001104488.1:p.Gly1067Ser NC_000011.10:20045158:G:A p.(Gly1067Ser) NC_000011.10:20045158:G:A p.(Gly1067Ser) NC_000011.10:20045158:G:A Identity +NM_005121.3:c.275C>G NP_005112.2:p.Ala92Gly NC_000017.11:62063092:G:C p.(Ala92Gly) NC_000017.11:62063092:G:C p.(Ala92Gly) NC_000017.11:62063092:G:C Identity +NM_003613.4:c.1457C>T NP_003604.4:p.Thr486Met NC_000015.10:65198828:G:A p.(Thr486Met) NC_000015.10:65198828:G:A p.(Thr486Met) NC_000015.10:65198828:G:A Identity +NM_001080479.3:c.820G>T NP_001073948.2:p.Asp274Tyr NC_000005.10:73776675:G:T p.(Asp274Tyr) NC_000005.10:73776675:G:T p.(Asp274Tyr) NC_000005.10:73776675:G:T Identity +NM_022897.5:c.1057G>C NP_075048.1:p.Glu353Gln NC_000005.10:170918814:G:C p.(Glu353Gln) NC_000005.10:170918814:G:C p.(Glu353Gln) NC_000005.10:170918814:G:C Identity +NM_001282917.2:c.4006C>T NP_001269846.1:p.Pro1336Ser NC_000020.11:38569938:C:T p.(Pro1336Ser) NC_000020.11:38569938:C:T p.(Pro1336Ser) NC_000020.11:38569938:C:T Identity +NM_001265587.2:c.71C>G NP_001252516.1:p.Ala24Gly NC_000019.10:17821435:G:C p.(Ala24Gly) NC_000019.10:17821435:G:C p.(Ala24Gly) NC_000019.10:17821435:G:C Identity +NM_004693.3:c.956T>A NP_004684.2:p.Ile319Asn NC_000012.12:52430619:A:T p.(Ile319Asn) NC_000012.12:52430619:A:T p.(Ile319Asn) NC_000012.12:52430619:A:T Identity +NM_001001331.4:c.1856G>A NP_001001331.1:p.Ser619Asn NC_000003.12:10359926:C:T p.(Ser619Asn) NC_000003.12:10359926:C:T p.(Ser619Asn) NC_000003.12:10359926:C:T Identity +NM_006735.4:c.256C>A NP_006726.1:p.Pro86Thr NC_000007.14:27102244:G:T p.(Pro86Thr) NC_000007.14:27102244:G:T p.(Pro86Thr) NC_000007.14:27102244:G:T Identity +NM_033400.3:c.6664C>T NP_207646.2:p.Arg2222Cys NC_000014.9:23523277:G:A p.(Arg2222Cys) NC_000014.9:23523277:G:A p.(Arg2222Cys) NC_000014.9:23523277:G:A Identity +NM_001367979.1:c.1955A>G NP_001354908.1:p.Asp652Gly NC_000011.10:31102204:T:C p.(Asp652Gly) NC_000011.10:31102204:T:C p.(Asp652Gly) NC_000011.10:31102204:T:C Identity +NM_001145418.2:c.2779C>T NP_001138890.1:p.His927Tyr NC_000022.11:28107065:G:A p.(His927Tyr) NC_000022.11:28107065:G:A p.(His927Tyr) NC_000022.11:28107065:G:A Identity +NM_017619.4:c.1024A>C NP_060089.1:p.Asn342His NC_000001.11:103543425:A:C p.(Asn342His) NC_000001.11:103543425:A:C p.(Asn342His) NC_000001.11:103543425:A:C Identity +NM_001201427.2:c.2258A>G NP_001188356.1:p.Asp753Gly NC_000006.12:39891638:A:G p.(Asp753Gly) NC_000006.12:39891638:A:G p.(Asp753Gly) NC_000006.12:39891638:A:G Identity +NM_001278298.2:c.3550C>T NP_001265227.1:p.Gln1184Ter NC_000003.12:130395446:C:T p.(Gln1184Ter) NC_000003.12:130395446:C:T p.(Gln1184Ter) NC_000003.12:130395446:C:T Identity +NM_022802.3:c.1381G>A NP_073713.2:p.Val461Met NC_000010.11:125026378:C:T p.(Val461Met) NC_000010.11:125026378:C:T p.(Val461Met) NC_000010.11:125026378:C:T Identity +NM_001365820.1:c.275T>A NP_001352749.1:p.Ile92Asn NC_000001.11:37943644:A:T p.(Ile92Asn) NC_000001.11:37943644:A:T p.(Ile92Asn) NC_000001.11:37943644:A:T Identity +NM_001323599.2:c.2234C>T NP_001310528.1:p.Ala745Val NC_000010.11:29522634:G:A p.(Ala745Val) NC_000010.11:29522634:G:A p.(Ala745Val) NC_000010.11:29522634:G:A Identity +NM_001204519.2:c.1081C>T NP_001191448.1:p.Gln361Ter NC_000017.11:3679764:G:A p.(Gln361Ter) NC_000017.11:3679764:G:A p.(Gln361Ter) NC_000017.11:3679764:G:A Identity +NM_138295.5:c.1279G>T NP_612152.1:p.Glu427Ter NC_000007.14:47908199:C:A p.(Glu427Ter) NC_000007.14:47908199:C:A p.(Glu427Ter) NC_000007.14:47908199:C:A Identity +NM_001289975.1:c.2111C>T NP_001276904.1:p.Ala704Val NC_000002.12:159430939:G:A p.(Ala704Val) NC_000002.12:159430939:G:A p.(Ala704Val) NC_000002.12:159430939:G:A Identity +NM_001146056.3:c.22C>T NP_001139528.1:p.Pro8Ser NC_000019.10:54188308:G:A p.(Pro8Ser) NC_000019.10:54188308:G:A p.(Pro8Ser) NC_000019.10:54188308:G:A Identity +NM_001306076.1:c.3503C>T NP_001293005.1:p.Ser1168Phe NC_000001.11:93256497:C:T p.(Ser1168Phe) NC_000001.11:93256497:C:T p.(Ser1168Phe) NC_000001.11:93256497:C:T Identity +NM_001001503.2:c.8C>A NP_001001503.1:p.Ala3Asp NC_000021.9:42893340:C:A p.(Ala3Asp) NC_000021.9:42893340:C:A p.(Ala3Asp) NC_000021.9:42893340:C:A Identity +NM_001146190.1:c.4903G>A NP_001139662.1:p.Gly1635Arg NC_000018.10:74803988:G:A p.(Gly1635Arg) NC_000018.10:74803988:G:A p.(Gly1635Arg) NC_000018.10:74803988:G:A Identity +NM_001256477.1:c.476C>T NP_001243406.1:p.Pro159Leu NC_000002.12:6865220:G:A p.(Pro159Leu) NC_000002.12:6865220:G:A p.(Pro159Leu) NC_000002.12:6865220:G:A Identity +NM_001278599.2:c.385G>A NP_001265528.1:p.Gly129Arg NC_000019.10:41239217:G:A p.(Gly129Arg) NC_000019.10:41239217:G:A p.(Gly129Arg) NC_000019.10:41239217:G:A Identity +NM_001388306.1:c.872C>T NP_001375235.1:p.Ala291Val NC_000019.10:1254947:C:T p.(Ala291Val) NC_000019.10:1254947:C:T p.(Ala291Val) NC_000019.10:1254947:C:T Identity +NM_001384475.1:c.6055G>A NP_001371404.1:p.Val2019Met NC_000018.10:75063775:G:A p.(Val2019Met) NC_000018.10:75063775:G:A p.(Val2019Met) NC_000018.10:75063775:G:A Identity +NM_138289.4:c.37A>G NP_612146.1:p.Ile13Val NC_000023.11:128052169:T:C p.(Ile13Val) NC_000023.11:128052169:T:C p.(Ile13Val) NC_000023.11:128052169:T:C Identity +NM_001271946.2:c.1804C>T NP_001258875.2:p.Arg602Cys NC_000005.10:168753888:G:A p.(Arg602Cys) NC_000005.10:168753888:G:A p.(Arg602Cys) NC_000005.10:168753888:G:A Identity +NM_138924.3:c.791G>A NP_620279.1:p.Arg264Gln NC_000019.10:1398694:C:T p.(Arg264Gln) NC_000019.10:1398694:C:T p.(Arg264Gln) NC_000019.10:1398694:C:T Identity +NM_003872.3:c.1062T>G NP_003863.2:p.Asn354Lys NC_000002.12:205727961:T:G p.(Asn354Lys) NC_000002.12:205727961:T:G p.(Asn354Lys) NC_000002.12:205727961:T:G Identity +NM_012072.4:c.1627G>A NP_036204.2:p.Val543Ile NC_000020.11:23084565:C:T p.(Val543Ile) NC_000020.11:23084565:C:T p.(Val543Ile) NC_000020.11:23084565:C:T Identity +NM_001202858.2:c.146C>A NP_001189787.1:p.Pro49Gln NC_000001.11:150509684:C:A p.(Pro49Gln) NC_000001.11:150509684:C:A p.(Pro49Gln) NC_000001.11:150509684:C:A Identity +NM_005959.5:c.593C>A NP_005950.1:p.Thr198Asn NC_000011.10:92981815:C:A p.(Thr198Asn) NC_000011.10:92981815:C:A p.(Thr198Asn) NC_000011.10:92981815:C:A Identity +NM_001301035.2:c.1310A>G NP_001287964.1:p.Lys437Arg NC_000019.10:42248576:T:C p.(Lys437Arg) NC_000019.10:42248576:T:C p.(Lys437Arg) NC_000019.10:42248576:T:C Identity +NM_001243286.2:c.73C>G NP_001230215.1:p.Leu25Val NC_000003.12:111072089:C:G p.(Leu25Val) NC_000003.12:111072089:C:G p.(Leu25Val) NC_000003.12:111072089:C:G Identity +NM_032279.4:c.1030C>T NP_115655.2:p.Arg344Trp NC_000003.12:193467399:G:A p.(Arg344Trp) NC_000003.12:193467399:G:A p.(Arg344Trp) NC_000003.12:193467399:G:A Identity +NM_001365693.1:c.8243C>T NP_001352622.1:p.Thr2748Met NC_000007.14:142105871:C:T p.(Thr2748Met) NC_000007.14:142105871:C:T p.(Thr2748Met) NC_000007.14:142105871:C:T Identity +NM_001142502.2:c.236T>G NP_001135974.1:p.Phe79Cys NC_000019.10:45397020:A:C p.(Phe79Cys) NC_000019.10:45397020:A:C p.(Phe79Cys) NC_000019.10:45397020:A:C Identity +NM_004559.5:c.680G>T NP_004550.2:p.Gly227Val NC_000001.11:42697201:G:T p.(Gly227Val) NC_000001.11:42697201:G:T p.(Gly227Val) NC_000001.11:42697201:G:T Identity +NM_198488.5:c.1042C>T NP_940890.4:p.Arg348Cys NC_000008.11:143728418:G:A p.(Arg348Cys) NC_000008.11:143728418:G:A p.(Arg348Cys) NC_000008.11:143728418:G:A Identity +NM_001267578.2:c.1287A>C NP_001254507.1:p.Gln429His NC_000001.11:179917770:A:C p.(Gln429His) NC_000001.11:179917770:A:C p.(Gln429His) NC_000001.11:179917770:A:C Identity +NM_001098623.2:c.13673G>T NP_001092093.2:p.Arg4558Leu NC_000001.11:228317574:G:T p.(Arg4558Leu) NC_000001.11:228317574:G:T p.(Arg4558Leu) NC_000001.11:228317574:G:T Identity +NM_001256012.3:c.3784A>G NP_001242941.1:p.Thr1262Ala NC_000017.11:8499436:T:C p.(Thr1262Ala) NC_000017.11:8499436:T:C p.(Thr1262Ala) NC_000017.11:8499436:T:C Identity +NM_001324255.2:c.671T>A NP_001311184.1:p.Ile224Asn NC_000005.10:72194403:T:A p.(Ile224Asn) NC_000005.10:72194403:T:A p.(Ile224Asn) NC_000005.10:72194403:T:A Identity +NM_001168249.1:c.2827C>T NP_001161721.1:p.Pro943Ser NC_000001.11:102946949:G:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001366111.1:c.1027C>T NP_001353040.1:p.Pro343Ser NC_000007.14:127610871:G:A p.(Pro343Ser) NC_000007.14:127610871:G:A p.(Pro343Ser) NC_000007.14:127610871:G:A Identity +NM_015176.4:c.709C>T NP_055991.1:p.Pro237Ser NC_000001.11:224153333:C:T p.(Pro237Ser) NC_000001.11:224153333:C:T p.(Pro237Ser) NC_000001.11:224153333:C:T Identity +NM_018897.3:c.11871G>A NP_061720.2:p.Met3957Ile NC_000002.12:195738124:C:T p.(Met3957Ile) NC_000002.12:195738124:C:T p.(Met3957Ile) NC_000002.12:195738124:C:T Identity +NM_001100875.3:c.365C>T NP_001094345.1:p.Pro122Leu NC_000017.11:62759851:G:A p.(Pro122Leu) NC_000017.11:62759851:G:A p.(Pro122Leu) NC_000017.11:62759851:G:A Identity +NM_001366177.2:c.8902C>T NP_001353106.1:p.Arg2968Ter NC_000001.11:155337667:G:A p.(Arg2968Ter) NC_000001.11:155337667:G:A p.(Arg2968Ter) NC_000001.11:155337667:G:A Identity +NM_001317939.2:c.2554C>T NP_001304868.1:p.His852Tyr NC_000009.12:16435058:G:A p.(His852Tyr) NC_000009.12:16435058:G:A p.(His852Tyr) NC_000009.12:16435058:G:A Identity +NM_052947.4:c.1571A>G NP_443179.3:p.Asp524Gly NC_000018.10:58579204:T:C p.(Asp524Gly) NC_000018.10:58579204:T:C p.(Asp524Gly) NC_000018.10:58579204:T:C Identity +NM_144688.5:c.1556G>A NP_653289.3:p.Arg519Gln NC_000019.10:49417376:G:A p.(Arg519Gln) NC_000019.10:49417376:G:A p.(Arg519Gln) NC_000019.10:49417376:G:A Identity +NM_001042410.2:c.1237G>T NP_001035869.1:p.Val413Leu NC_000002.12:219234857:G:T p.(Val413Leu) NC_000002.12:219234857:G:T p.(Val413Leu) NC_000002.12:219234857:G:T Identity +NM_001278531.2:c.1099C>T NP_001265460.1:p.Arg367Cys NC_000006.12:169769578:C:T p.(Arg367Cys) NC_000006.12:169769578:C:T p.(Arg367Cys) NC_000006.12:169769578:C:T Identity +NM_139285.4:c.1396G>A NP_644814.1:p.Glu466Lys NC_000017.11:35746100:C:T p.(Glu466Lys) NC_000017.11:35746100:C:T p.(Glu466Lys) NC_000017.11:35746100:C:T Identity +NM_001080479.3:c.1058C>T NP_001073948.2:p.Pro353Leu NC_000005.10:73832370:C:T p.(Pro353Leu) NC_000005.10:73832370:C:T p.(Pro353Leu) NC_000005.10:73832370:C:T Identity +NM_001017980.4:c.154A>G NP_001017980.1:p.Ile52Val NC_000023.11:151403730:A:G p.(Ile52Val) NC_000023.11:151403730:A:G p.(Ile52Val) NC_000023.11:151403730:A:G Identity +NM_001324255.2:c.3691C>T NP_001311184.1:p.Pro1231Ser NC_000005.10:72197423:C:T p.(Pro1231Ser) NC_000005.10:72197423:C:T p.(Pro1231Ser) NC_000005.10:72197423:C:T Identity +NM_003482.4:c.1390G>A NP_003473.3:p.Ala464Thr NC_000012.12:49052292:C:T p.(Ala464Thr) NC_000012.12:49052292:C:T p.(Ala464Thr) NC_000012.12:49052292:C:T Identity +NM_001353840.1:c.1174G>T NP_001340769.1:p.Glu392Ter NC_000023.11:57448588:G:T p.(Glu392Ter) NC_000023.11:57448588:G:T p.(Glu392Ter) NC_000023.11:57448588:G:T Identity +NM_178510.2:c.181G>A NP_848605.1:p.Ala61Thr NC_000011.10:113388064:G:A p.(Ala61Thr) NC_000011.10:113388064:G:A p.(Ala61Thr) NC_000011.10:113388064:G:A Identity +NM_024496.4:c.550A>G NP_078772.1:p.Ser184Gly NC_000014.9:77027242:T:C p.(Ser184Gly) NC_000014.9:77027242:T:C p.(Ser184Gly) NC_000014.9:77027242:T:C Identity +NM_173628.4:c.13183C>T NP_775899.3:p.Arg4395Trp NC_000017.11:78424111:G:A p.(Arg4395Trp) NC_000017.11:78424111:G:A p.(Arg4395Trp) NC_000017.11:78424111:G:A Identity +NM_001377334.1:c.223C>T NP_001364263.1:p.Arg75Trp NC_000001.11:204469579:G:A p.(Arg75Trp) NC_000001.11:204469579:G:A p.(Arg75Trp) NC_000001.11:204469579:G:A Identity +NM_001394531.1:c.7675G>A NP_001381460.1:p.Ala2559Thr NC_000010.11:48943374:G:A p.(Ala2559Thr) NC_000010.11:48943374:G:A p.(Ala2559Thr) NC_000010.11:48943374:G:A Identity +NM_003482.4:c.15539T>C NP_003473.3:p.Val5180Ala NC_000012.12:49026426:A:G p.(Val5180Ala) NC_000012.12:49026426:A:G p.(Val5180Ala) NC_000012.12:49026426:A:G Identity +NM_004638.4:c.923A>G NP_004629.3:p.Lys308Arg NC_000006.12:31626102:A:G p.(Lys308Arg) NC_000006.12:31626102:A:G p.(Lys308Arg) NC_000006.12:31626102:A:G Identity +NM_020433.5:c.1055G>A NP_065166.2:p.Arg352His NC_000020.11:44159731:C:T p.(Arg352His) NC_000020.11:44159731:C:T p.(Arg352His) NC_000020.11:44159731:C:T Identity +NM_001105543.2:c.649G>A NP_001099013.1:p.Val217Ile NC_000007.14:132508044:C:T p.(Val217Ile) NC_000007.14:132508044:C:T p.(Val217Ile) NC_000007.14:132508044:C:T Identity +NM_001318842.1:c.757G>A NP_001305771.1:p.Ala253Thr NC_000006.12:42938611:G:A p.(Ala253Thr) NC_000006.12:42938611:G:A p.(Ala253Thr) NC_000006.12:42938611:G:A Identity +NM_001297704.3:c.2189G>T NP_001284633.1:p.Arg730Leu NC_000001.11:81966499:G:T p.(Arg730Leu) NC_000001.11:81966499:G:T p.(Arg730Leu) NC_000001.11:81966499:G:T Identity +NM_014611.3:c.1367C>T NP_055426.1:p.Pro456Leu NC_000006.12:89785093:G:A p.(Pro456Leu) NC_000006.12:89785093:G:A p.(Pro456Leu) NC_000006.12:89785093:G:A Identity +NM_001454.4:c.1263G>T NP_001445.2:p.Leu421Phe NC_000017.11:76137355:C:A p.(Leu421Phe) NC_000017.11:76137355:C:A p.(Leu421Phe) NC_000017.11:76137355:C:A Identity +NM_001099293.3:c.658A>G NP_001092763.1:p.Ile220Val NC_000005.10:155014516:A:G p.(Ile220Val) NC_000005.10:155014516:A:G p.(Ile220Val) NC_000005.10:155014516:A:G Identity +NM_001127714.3:c.5042G>A NP_001121186.1:p.Arg1681His NC_000001.11:41579755:C:T p.(Arg1681His) NC_000001.11:41579755:C:T p.(Arg1681His) NC_000001.11:41579755:C:T Identity +NM_005267.5:c.332C>T NP_005258.2:p.Ala111Val NC_000001.11:147908286:C:T p.(Ala111Val) NC_000001.11:147908286:C:T p.(Ala111Val) NC_000001.11:147908286:C:T Identity +NM_001080527.2:c.4941G>C NP_001073996.1:p.Glu1647Asp NC_000002.12:127631286:G:C p.(Glu1647Asp) NC_000002.12:127631286:G:C p.(Glu1647Asp) NC_000002.12:127631286:G:C Identity +NM_173628.4:c.12389C>G NP_775899.3:p.Pro4130Arg NC_000017.11:78429136:G:C p.(Pro4130Arg) NC_000017.11:78429136:G:C p.(Pro4130Arg) NC_000017.11:78429136:G:C Identity +NM_001393501.1:c.719G>A NP_001380430.1:p.Arg240Gln NC_000019.10:18123999:G:A p.(Arg240Gln) NC_000019.10:18123999:G:A p.(Arg240Gln) NC_000019.10:18123999:G:A Identity +NM_001040272.6:c.95G>A NP_001035362.3:p.Arg32Gln NC_000009.12:18504859:G:A p.(Arg32Gln) NC_000009.12:18504859:G:A p.(Arg32Gln) NC_000009.12:18504859:G:A Identity +NM_001315529.2:c.5680C>G NP_001302458.1:p.Pro1894Ala NC_000021.9:46412875:C:G p.(Pro1894Ala) NC_000021.9:46412875:C:G p.(Pro1894Ala) NC_000021.9:46412875:C:G Identity +NM_031308.4:c.2651G>A NP_112598.3:p.Arg884Gln NC_000008.11:143870602:C:T p.(Arg884Gln) NC_000008.11:143870602:C:T p.(Arg884Gln) NC_000008.11:143870602:C:T Identity +NM_001127708.3:c.511C>T NP_001121180.2:p.Pro171Ser NC_000001.11:186306352:C:T p.(Pro171Ser) NC_000001.11:186306352:C:T p.(Pro171Ser) NC_000001.11:186306352:C:T Identity +NM_001330308.2:c.668C>T NP_001317237.1:p.Ala223Val NC_000011.10:65344609:C:T p.(Ala223Val) NC_000011.10:65344609:C:T p.(Ala223Val) NC_000011.10:65344609:C:T Identity +NM_001329137.2:c.1214C>T NP_001316066.1:p.Pro405Leu NC_000001.11:43591217:C:T p.(Pro405Leu) NC_000001.11:43591217:C:T p.(Pro405Leu) NC_000001.11:43591217:C:T Identity +NM_145728.3:c.3533C>T NP_663780.2:p.Pro1178Leu NC_000015.10:99131892:C:T p.(Pro1178Leu) NC_000015.10:99131892:C:T p.(Pro1178Leu) NC_000015.10:99131892:C:T Identity +NM_001308330.2:c.2902G>A NP_001295259.1:p.Ala968Thr NC_000003.12:121407556:G:A p.(Ala968Thr) NC_000003.12:121407556:G:A p.(Ala968Thr) NC_000003.12:121407556:G:A Identity +NM_001387937.1:c.6367G>A NP_001374866.1:p.Ala2123Thr NC_000005.10:119178180:G:A p.(Ala2123Thr) NC_000005.10:119178180:G:A p.(Ala2123Thr) NC_000005.10:119178180:G:A Identity +NM_001008224.3:c.1168A>G NP_001008225.1:p.Met390Val NC_000015.10:70671052:T:C p.(Met390Val) NC_000015.10:70671052:T:C p.(Met390Val) NC_000015.10:70671052:T:C Identity +NM_203408.4:c.1478C>T NP_981953.2:p.Ser493Leu NC_000023.11:34130800:G:A p.(Ser493Leu) NC_000023.11:34130800:G:A p.(Ser493Leu) NC_000023.11:34130800:G:A Identity +NM_003970.4:c.241G>A NP_003961.3:p.Glu81Lys NC_000008.11:2052290:G:A p.(Glu81Lys) NC_000008.11:2052290:G:A p.(Glu81Lys) NC_000008.11:2052290:G:A Identity +NM_001191016.3:c.643A>G NP_001177945.2:p.Ile215Val NC_000011.10:104891193:T:C p.(Ile215Val) NW_025791791.1:190326:T:C p.(Ile215Val) NC_000011.10:190326:G:C Identity +NM_001386735.1:c.1378G>C NP_001373664.1:p.Glu460Gln NC_000016.10:72958767:C:G p.(Glu460Gln) NC_000016.10:72958767:C:G p.(Glu460Gln) NC_000016.10:72958767:C:G Identity +NM_001166018.2:c.632C>T NP_001159490.1:p.Ala211Val NC_000007.14:39339761:C:T p.(Ala211Val) NC_000007.14:39339761:C:T p.(Ala211Val) NC_000007.14:39339761:C:T Identity +NM_001292034.3:c.919T>A NP_001278963.1:p.Ser307Thr NC_000006.12:149378833:T:A p.(Ser307Thr) NC_000006.12:149378833:T:A p.(Ser307Thr) NC_000006.12:149378833:T:A Identity +NM_001099224.3:c.1109A>C NP_001092694.1:p.Lys370Thr NC_000009.12:27036503:A:C p.(Lys370Thr) NC_000009.12:27036503:A:C p.(Lys370Thr) NC_000009.12:27036503:A:C Identity +NM_001271718.2:c.118A>G NP_001258647.1:p.Thr40Ala NC_000004.12:56821544:T:C p.(Thr40Ala) NC_000004.12:56821544:T:C p.(Thr40Ala) NC_000004.12:56821544:T:C Identity +NM_001669.4:c.954G>T NP_001660.2:p.Gln318His NC_000023.11:2915601:C:A p.(Gln318His) NC_000023.11:2915601:C:A p.(Gln318His) NC_000023.11:2915601:C:A Identity +NM_000412.5:c.539T>C NP_000403.1:p.Ile180Thr NC_000003.12:186671769:T:C p.(Ile180Thr) NC_000003.12:186671769:T:C p.(Ile180Thr) NC_000003.12:186671769:T:C Identity +NM_001401501.2:c.10637A>C NP_001388430.1:p.Lys3546Thr NC_000019.10:8966252:T:G p.(Lys3546Thr) NC_000019.10:8966252:T:G p.(Lys3546Thr) NC_000019.10:8966252:T:G Identity +NM_001287762.2:c.1561G>A NP_001274691.1:p.Asp521Asn NC_000015.10:84935497:G:A p.(Asp521Asn) NC_000015.10:84935497:G:A p.(Asp521Asn) NC_000015.10:84935497:G:A Identity +NM_001197240.2:c.763G>C NP_001184169.1:p.Ala255Pro NC_000006.12:26392286:G:C p.(Ala255Pro) NC_000006.12:26392286:G:C p.(Ala255Pro) NC_000006.12:26392286:G:C Identity +NM_022078.3:c.701A>G NP_071361.2:p.Asn234Ser NC_000001.11:26897475:T:C p.(Asn234Ser) NC_000001.11:26897475:T:C p.(Asn234Ser) NC_000001.11:26897475:T:C Identity +NM_001317934.2:c.1172G>A NP_001304863.1:p.Arg391His NC_000004.12:1355240:G:A p.(Arg391His) NC_000004.12:1355240:G:A p.(Arg391His) NC_000004.12:1355240:G:A Identity +NM_001393897.1:c.3112G>C NP_001380826.1:p.Glu1038Gln NC_000007.14:132185344:C:G p.(Glu1038Gln) NC_000007.14:132185344:C:G p.(Glu1038Gln) NC_000007.14:132185344:C:G Identity +NM_000296.4:c.6589C>T NP_000287.4:p.Arg2197Trp NC_000016.10:2108577:G:A p.(Arg2197Trp) NC_000016.10:2108577:G:A p.(Arg2197Trp) NC_000016.10:2108577:G:A Identity +NM_001003698.4:c.4853G>A NP_001003698.1:p.Arg1618Gln NC_000006.12:7248756:G:A p.(Arg1618Gln) NC_000006.12:7248756:G:A p.(Arg1618Gln) NC_000006.12:7248756:G:A Identity +NM_001080467.3:c.2450T>G NP_001073936.1:p.Val817Gly NC_000018.10:49904792:A:C p.(Val817Gly) NC_000018.10:49904792:A:C p.(Val817Gly) NC_000018.10:49904792:A:C Identity +NM_001353983.2:c.318T>G NP_001340912.1:p.His106Gln NC_000001.11:57072402:A:C p.(His106Gln) NC_000001.11:57072402:A:C p.(His106Gln) NC_000001.11:57072402:A:C Identity +NM_001167595.2:c.290G>A NP_001161067.1:p.Arg97Gln NC_000005.10:34005856:C:T p.(Arg97Gln) NC_000005.10:34005856:C:T p.(Arg97Gln) NC_000005.10:34005856:C:T Identity +NM_001318934.2:c.1301T>C NP_001305863.1:p.Ile434Thr NC_000003.12:149059788:A:G p.(Ile434Thr) NC_000003.12:149059788:A:G p.(Ile434Thr) NC_000003.12:149059788:A:G Identity +NM_139278.4:c.611A>G NP_644807.1:p.Gln204Arg NC_000008.11:22151883:T:C p.(Gln204Arg) NC_000008.11:22151883:T:C p.(Gln204Arg) NC_000008.11:22151883:T:C Identity +NM_006735.4:c.1006C>A NP_006726.1:p.Leu336Ile NC_000007.14:27100850:G:T p.(Leu336Ile) NC_000007.14:27100850:G:T p.(Leu336Ile) NC_000007.14:27100850:G:T Identity +NM_001267609.1:c.1550G>A NP_001254538.1:p.Gly517Asp NC_000001.11:168085630:C:T p.(Gly517Asp) NC_000001.11:168085630:C:T p.(Gly517Asp) NC_000001.11:168085630:C:T Identity +NM_001105513.3:c.38T>C NP_001098983.2:p.Ile13Thr NC_000003.12:39109094:T:C p.(Ile13Thr) NC_000003.12:39109094:T:C p.(Ile13Thr) NC_000003.12:39109094:T:C Identity +NM_003005.4:c.992G>A NP_002996.2:p.Ser331Asn NC_000001.11:169611646:C:T p.(Ser331Asn) NC_000001.11:169611646:C:T p.(Ser331Asn) NC_000001.11:169611646:C:T Identity +NM_001401501.2:c.35930C>T NP_001388430.1:p.Thr11977Ile NC_000019.10:8935144:G:A p.(Thr11977Ile) NC_000019.10:8935144:G:A p.(Thr11977Ile) NC_000019.10:8935144:G:A Identity +NM_003482.4:c.12952A>G NP_003473.3:p.Lys4318Glu NC_000012.12:49031752:T:C p.(Lys4318Glu) NC_000012.12:49031752:T:C p.(Lys4318Glu) NC_000012.12:49031752:T:C Identity +NM_001008211.1:c.536T>C NP_001008212.1:p.Val179Ala NC_000010.11:13112618:T:C p.(Val179Ala) NC_000010.11:13112618:T:C p.(Val179Ala) NC_000010.11:13112618:T:C Identity +NM_001393897.1:c.1742C>T NP_001380826.1:p.Thr581Met NC_000007.14:132227590:G:A p.(Thr581Met) NC_000007.14:132227590:G:A p.(Thr581Met) NC_000007.14:132227590:G:A Identity +NM_001378418.1:c.419A>G NP_001365347.1:p.Gln140Arg NC_000022.11:42214886:T:C p.(Gln140Arg) NC_000022.11:42214886:T:C p.(Gln140Arg) NC_000022.11:42214886:T:C Identity +NM_001130082.3:c.1126C>T NP_001123554.1:p.Pro376Ser NC_000003.12:48422928:G:A p.(Pro376Ser) NC_000003.12:48422928:G:A p.(Pro376Ser) NC_000003.12:48422928:G:A Identity +NM_000296.4:c.7061A>G NP_000287.4:p.Gln2354Arg NC_000016.10:2107886:T:C p.(Gln2354Arg) NC_000016.10:2107886:T:C p.(Gln2354Arg) NC_000016.10:2107886:T:C Identity +NM_002015.4:c.311G>C NP_002006.2:p.Gly104Ala NC_000013.11:40665901:C:G p.(Gly104Ala) NC_000013.11:40665901:C:G p.(Gly104Ala) NC_000013.11:40665901:C:G Identity +NM_020754.4:c.365G>A NP_065805.2:p.Cys122Tyr NC_000003.12:119380919:G:A p.(Cys122Tyr) NC_000003.12:119380919:G:A p.(Cys122Tyr) NC_000003.12:119380919:G:A Identity +NM_001320653.2:c.1490C>T NP_001307582.1:p.Thr497Ile NC_000017.11:5388954:G:A p.(Thr497Ile) NC_000017.11:5388954:G:A p.(Thr497Ile) NC_000017.11:5388954:G:A Identity +NM_007118.4:c.5117C>T NP_009049.2:p.Ala1706Val NC_000005.10:14419934:C:T p.(Ala1706Val) NC_000005.10:14419934:C:T p.(Ala1706Val) NC_000005.10:14419934:C:T Identity +NM_004714.3:c.755G>A NP_004705.1:p.Arg252His NC_000019.10:39828348:C:T p.(Arg252His) NC_000019.10:39828348:C:T p.(Arg252His) NC_000019.10:39828348:C:T Identity +NM_005994.4:c.228C>A NP_005985.3:p.His76Gln NC_000017.11:61400403:C:A p.(His76Gln) NC_000017.11:61400403:C:A p.(His76Gln) NC_000017.11:61400403:C:A Identity +NM_001099293.3:c.2263G>A NP_001092763.1:p.Val755Ile NC_000005.10:155016121:G:A p.(Val755Ile) NC_000005.10:155016121:G:A p.(Val755Ile) NC_000005.10:155016121:G:A Identity +NM_001243254.2:c.2614C>T NP_001230183.1:p.Gln872Ter NC_000011.10:9150201:G:A p.(Gln872Ter) NC_000011.10:9150201:G:A p.(Gln872Ter) NC_000011.10:9150201:G:A Identity +NM_015557.3:c.284C>G NP_056372.1:p.Pro95Arg NC_000001.11:6159438:G:C p.(Pro95Arg) NC_000001.11:6159438:G:C p.(Pro95Arg) NC_000001.11:6159438:G:C Identity +NM_001393897.1:c.5670G>A NP_001380826.1:p.Met1890Ile NC_000007.14:132130493:C:T p.(Met1890Ile) NC_000007.14:132130493:C:T p.(Met1890Ile) NC_000007.14:132130493:C:T Identity +NM_001353345.2:c.1943C>T NP_001340274.1:p.Ser648Leu NC_000012.12:121814157:C:T p.(Ser648Leu) NC_000012.12:121814157:C:T p.(Ser648Leu) NC_000012.12:121814157:C:T Identity +NM_001329963.1:c.2550T>G NP_001316892.1:p.Phe850Leu NC_000002.12:38826004:A:C p.(Phe850Leu) NC_000002.12:38826004:A:C p.(Phe850Leu) NC_000002.12:38826004:A:C Identity +NM_001354045.2:c.59C>T NP_001340974.1:p.Ser20Phe NC_000002.12:63588212:G:A p.(Ser20Phe) NC_000002.12:63588212:G:A p.(Ser20Phe) NC_000002.12:63588212:G:A Identity +NM_001372574.1:c.42del NP_001359503.1:p.Gln14fs NC_000012.12:111598992:C: p.(Gln14HisfsTer32) NC_000012.12:111598992:C: p.(Gln14HisfsTer32) NC_000012.12:111598992:C: Analogous +NM_001198.4:c.1961C>T NP_001189.2:p.Ser654Phe NC_000006.12:106106968:C:T p.(Ser654Phe) NC_000006.12:106106968:C:T p.(Ser654Phe) NC_000006.12:106106968:C:T Identity +NM_001358235.2:c.8273G>A NP_001345164.1:p.Ser2758Asn NC_000004.12:154236378:C:T p.(Ser2758Asn) NC_000004.12:154236378:C:T p.(Ser2758Asn) NC_000004.12:154236378:C:T Identity +NM_173651.4:c.5026A>T NP_775922.3:p.Thr1676Ser NC_000002.12:185792161:A:T p.(Thr1676Ser) NC_000002.12:185792161:A:T p.(Thr1676Ser) NC_000002.12:185792161:A:T Identity +NM_001186.4:c.940T>C NP_001177.1:p.Ser314Pro NC_000021.9:29326763:T:C p.(Ser314Pro) NC_000021.9:29326763:T:C p.(Ser314Pro) NC_000021.9:29326763:T:C Identity +NM_004636.4:c.1330C>A NP_004627.1:p.His444Asn NC_000003.12:50274554:C:A p.(His444Asn) NC_000003.12:50274554:C:A p.(His444Asn) NC_000003.12:50274554:C:A Identity +NM_001386735.1:c.320C>T NP_001373664.1:p.Pro107Leu NC_000016.10:72959825:G:A p.(Pro107Leu) NC_000016.10:72959825:G:A p.(Pro107Leu) NC_000016.10:72959825:G:A Identity +NM_001005242.3:c.2196del NP_001005242.2:p.Ile733fs NC_000012.12:32796269:GG:G p.(Ile733SerfsTer23) NC_000012.12:32796269:GG:G p.(Ile733SerfsTer23) NC_000012.12:32796269:G: Analogous +NM_000051.4:c.147_148insG NP_000042.3:p.Lys50fs NC_000011.10:108227850::G p.(Lys50GlufsTer13) NC_000011.10:108227849:C:G p.(Lys50GlufsTer13) NC_000011.10:108227850:CA:G Analogous +NM_000203.5:c.1652T>A NP_000194.2:p.Val551Asp NC_000004.12:1003549:T:A p.(Val551Asp) NC_000004.12:1003549:T:A p.(Val551Asp) NC_000004.12:1003549:T:A Identity +NM_000296.4:c.401C>T NP_000287.4:p.Ala134Val NC_000016.10:2118803:G:A p.(Ala134Val) NC_000016.10:2118803:G:A p.(Ala134Val) NC_000016.10:2118803:G:A Identity +NM_053054.4:c.923C>T NP_444282.3:p.Ala308Val NC_000011.10:66025456:G:A p.(Ala308Val) NC_000011.10:66025456:G:A p.(Ala308Val) NC_000011.10:66025456:G:A Identity +NM_014068.3:c.110G>A NP_054787.2:p.Arg37His NC_000006.12:31138721:G:A p.(Arg37His) NC_000006.12:31138721:G:A p.(Arg37His) NC_000006.12:31138721:G:A Identity +NM_001388453.1:c.2238TCA[1] NP_001375382.1:p.His747del NC_000017.11:76292483:TGATGAT:TGAT p.(His747del) NC_000017.11:76292488:A:TGA ERR:Parse ERR:Parse Identity +NM_052947.4:c.3169T>G NP_443179.3:p.Leu1057Val NC_000018.10:58537017:A:C p.(Leu1057Val) NC_000018.10:58537017:A:C p.(Leu1057Val) NC_000018.10:58537017:A:C Identity +NM_001386735.1:c.337G>A NP_001373664.1:p.Ala113Thr NC_000016.10:72959808:C:T p.(Ala113Thr) NC_000016.10:72959808:C:T p.(Ala113Thr) NC_000016.10:72959808:C:T Identity +NM_001145811.2:c.1129G>A NP_001139283.1:p.Asp377Asn NC_000011.10:16049937:C:T p.(Asp377Asn) NC_000011.10:16049937:C:T p.(Asp377Asn) NC_000011.10:16049937:C:T Identity +NM_001166418.2:c.670T>A NP_001159890.1:p.Trp224Arg NC_000023.11:72462065:A:T p.(Trp224Arg) NC_000023.11:72462065:A:T p.(Trp224Arg) NC_000023.11:72462065:A:T Identity +NM_206933.4:c.14173T>C NP_996816.3:p.Trp4725Arg NC_000001.11:215650761:A:G p.(Trp4725Arg) NC_000001.11:215650761:A:G p.(Trp4725Arg) NC_000001.11:215650761:A:G Identity +NM_000088.4:c.4201G>T NP_000079.2:p.Glu1401Ter NC_000017.11:50185824:C:A p.(Glu1401Ter) NC_000017.11:50185824:C:A p.(Glu1401Ter) NC_000017.11:50185824:C:A Identity +NM_000297.4:c.2351_2354del NP_000288.1:p.Lys784fs NC_000004.12:88065868:AGAAAGA:AGA p.(Lys784ArgfsTer16) NC_000004.12:88065868:AGAAAGA:AGA p.(Lys784ArgfsTer16) NC_000004.12:88065871:AAGA: Analogous +NM_000595.4:c.37T>C NP_000586.2:p.Cys13Arg NC_000006.12:31572778:T:C p.(Cys13Arg) NC_000006.12:31572778:T:C p.(Cys13Arg) NC_000006.12:31572778:T:C Identity +NM_001164771.2:c.47G>A NP_001158243.1:p.Arg16Gln NC_000008.11:17538870:G:A p.(Arg16Gln) NC_000008.11:17538870:G:A p.(Arg16Gln) NC_000008.11:17538870:G:A Identity +NM_024490.4:c.1058C>A NP_077816.1:p.Ser353Tyr NC_000015.10:25723942:G:T p.(Ser353Tyr) NC_000015.10:25723942:G:T p.(Ser353Tyr) NC_000015.10:25723942:G:T Identity +NM_001012957.2:c.38C>G NP_001012975.1:p.Ala13Gly NC_000001.11:231626904:C:G p.(Ala13Gly) NC_000001.11:231626904:C:G p.(Ala13Gly) NC_000001.11:231626904:C:G Identity +NM_001004320.2:c.839C>A NP_001004320.1:p.Ser280Tyr NC_000007.14:15387523:G:T p.(Ser280Tyr) NC_000007.14:15387523:G:T p.(Ser280Tyr) NC_000007.14:15387523:G:T Identity +NM_001318221.2:c.224A>T NP_001305150.1:p.Asn75Ile NC_000016.10:31528605:A:T p.(Asn75Ile) NC_000016.10:31528605:A:T p.(Asn75Ile) NC_000016.10:31528605:A:T Identity +NM_000284.4:c.328C>G NP_000275.1:p.Pro110Ala NC_000023.11:19351316:C:G p.(Pro110Ala) NC_000023.11:19351316:C:G p.(Pro110Ala) NC_000023.11:19351316:C:G Identity +NM_000374.5:c.651dup NP_000365.3:p.Glu218Ter NC_000001.11:45014450:TTT:TTTT p.(Glu218Ter) NC_000001.11:45014450:TTT:TTTT p.(Glu218Ter) ERR:SPDI Identity +NM_014218.3:c.524C>G NP_055033.2:p.Pro175Arg NC_000019.10:54775317:C:G p.(Pro175Arg) NC_000019.10:54775317:C:G p.(Pro175Arg) NC_000019.10:54775317:C:G Identity +NM_001363349.1:c.3583T>G NP_001350278.1:p.Leu1195Val NC_000007.14:117735319:A:C p.(Leu1195Val) NC_000007.14:117735319:A:C p.(Leu1195Val) NC_000007.14:117735319:A:C Identity +NM_001144869.3:c.115C>T NP_001138341.1:p.Pro39Ser NC_000011.10:74493588:G:A p.(Pro39Ser) NC_000011.10:74493588:G:A p.(Pro39Ser) NC_000011.10:74493588:G:A Identity +NM_001378454.1:c.3854C>T NP_001365383.1:p.Ser1285Phe NC_000002.12:73450380:C:T p.(Ser1285Phe) NC_000002.12:73450380:C:T p.(Ser1285Phe) NC_000002.12:73450380:C:T Identity +NM_001286431.2:c.1853A>T NP_001273360.1:p.His618Leu NC_000006.12:111376267:T:A p.(His618Leu) NC_000006.12:111376267:T:A p.(His618Leu) NC_000006.12:111376267:T:A Identity +NM_017934.7:c.4664T>G NP_060404.4:p.Leu1555Trp NC_000006.12:78945463:A:C p.(Leu1555Trp) NC_000006.12:78945463:A:C p.(Leu1555Trp) NC_000006.12:78945463:A:C Identity +NM_018429.3:c.4613C>G NP_060899.2:p.Ala1538Gly NC_000005.10:71515085:C:G p.(Ala1538Gly) NC_000005.10:71515085:C:G p.(Ala1538Gly) NC_000005.10:71515085:C:G Identity +NM_001371411.1:c.1264A>C NP_001358340.1:p.Thr422Pro NC_000002.12:227688215:T:G p.(Thr422Pro) NC_000002.12:227688215:T:G p.(Thr422Pro) NC_000002.12:227688215:T:G Identity +NM_001122951.3:c.304G>A NP_001116423.1:p.Ala102Thr NC_000001.11:159205736:G:A p.(Ala102Thr) NC_000001.11:159205736:G:A p.(Ala102Thr) NC_000001.11:159205736:G:A Identity +NM_145886.4:c.482C>T NP_665893.2:p.Ser161Phe NC_000011.10:803400:G:A p.(Ser161Phe) NC_000011.10:803400:G:A p.(Ser161Phe) NC_000011.10:803400:G:A Identity +NM_001005914.3:c.782C>T NP_001005914.1:p.Ser261Phe NC_000003.12:50273414:C:T p.(Ser261Phe) NC_000003.12:50273414:C:T p.(Ser261Phe) NC_000003.12:50273414:C:T Identity +NM_000295.5:c.964G>A NP_000286.3:p.Asp322Asn NC_000014.9:94379564:C:T p.(Asp322Asn) NC_000014.9:94379564:C:T p.(Asp322Asn) NC_000014.9:94379564:C:T Identity +NM_001111018.2:c.1212G>C NP_001104488.1:p.Gln404His NC_000011.10:19933647:G:C p.(Gln404His) NC_000011.10:19933647:G:C p.(Gln404His) NC_000011.10:19933647:G:C Identity +NM_001308022.2:c.5123A>G NP_001294951.1:p.Asn1708Ser NC_000002.12:217804501:T:C p.(Asn1708Ser) NC_000002.12:217804501:T:C p.(Asn1708Ser) NC_000002.12:217804501:T:C Identity +NM_021071.4:c.898C>G NP_066549.2:p.Leu300Val NC_000012.12:14829417:G:C p.(Leu300Val) NC_000012.12:14829417:G:C p.(Leu300Val) NC_000012.12:14829417:G:C Identity +NM_173651.4:c.16346C>T NP_775922.3:p.Thr5449Ile NC_000002.12:185805651:C:T p.(Thr5449Ile) NC_000002.12:185805651:C:T p.(Thr5449Ile) NC_000002.12:185805651:C:T Identity +NM_001319224.2:c.1061A>G NP_001306153.1:p.His354Arg NC_000001.11:241866848:A:G p.(His354Arg) NC_000001.11:241866848:A:G p.(His354Arg) NC_000001.11:241866848:A:G Identity +NM_001354045.2:c.1805G>A NP_001340974.1:p.Cys602Tyr NC_000002.12:63360019:C:T p.(Cys602Tyr) NC_000002.12:63360019:C:T p.(Cys602Tyr) NC_000002.12:63360019:C:T Identity +NM_005251.3:c.748_751delinsAG NP_005242.1:p.Gly250fs NC_000016.10:86568082:GGCT:AG p.(Gly250SerfsTer212) NC_000016.10:86568082:GGCT:AG p.(Gly250SerfsTer212) NC_000016.10:86568082:GGCT:AG Analogous +NM_001291424.1:c.719A>C NP_001278353.1:p.Gln240Pro NC_000012.12:111447743:A:C p.(Gln240Pro) NC_000012.12:111447743:A:C p.(Gln240Pro) NC_000012.12:111447743:A:C Identity +NM_001166271.3:c.1933C>T NP_001159743.1:p.Arg645Trp NC_000013.11:24249755:C:T p.(Arg645Trp) NC_000013.11:24249755:C:T p.(Arg645Trp) NC_000013.11:24249755:C:T Identity +NM_001297755.2:c.704T>C NP_001284684.2:p.Leu235Pro NC_000004.12:83453538:A:G p.(Leu235Pro) NC_000004.12:83453538:A:G p.(Leu235Pro) NC_000004.12:83453538:A:G Identity +NM_033058.3:c.1028A>G NP_149047.2:p.Lys343Arg NC_000008.11:66152418:A:G p.(Lys343Arg) NC_000008.11:66152418:A:G p.(Lys343Arg) NC_000008.11:66152418:A:G Identity +NM_001283043.3:c.5312C>T NP_001269972.1:p.Pro1771Leu NC_000014.9:35627155:G:A p.(Pro1771Leu) NC_000014.9:35627155:G:A p.(Pro1771Leu) NC_000014.9:35627155:G:A Identity +NM_001166018.2:c.596C>T NP_001159490.1:p.Pro199Leu NC_000007.14:39339725:C:T p.(Pro199Leu) NC_000007.14:39339725:C:T p.(Pro199Leu) NC_000007.14:39339725:C:T Identity +NM_016089.3:c.647C>G NP_057173.2:p.Thr216Arg NC_000003.12:48268337:C:G p.(Thr216Arg) NC_000003.12:48268337:C:G p.(Thr216Arg) NC_000003.12:48268337:C:G Identity +NM_000833.5:c.2197G>C NP_000824.1:p.Ala733Pro NC_000016.10:9798435:C:G p.(Ala733Pro) NC_000016.10:9798435:C:G p.(Ala733Pro) NC_000016.10:9798435:C:G Identity +NM_001372080.1:c.2509G>A NP_001359009.1:p.Gly837Arg NC_000015.10:43361122:C:T p.(Gly837Arg) NC_000015.10:43361122:C:T p.(Gly837Arg) NC_000015.10:43361122:C:T Identity +NM_000059.4:c.9040T>G NP_000050.3:p.Ser3014Ala NC_000013.11:32379835:T:G p.(Ser3014Ala) NC_000013.11:32379835:T:G p.(Ser3014Ala) NC_000013.11:32379835:T:G Identity +NM_016148.5:c.2691C>G NP_057232.2:p.Asp897Glu NC_000019.10:50669268:G:C p.(Asp897Glu) NC_000019.10:50669268:G:C p.(Asp897Glu) NC_000019.10:50669268:G:C Identity +NM_052947.4:c.408G>T NP_443179.3:p.Arg136Ser NC_000018.10:58580367:C:A p.(Arg136Ser) NC_000018.10:58580367:C:A p.(Arg136Ser) NC_000018.10:58580367:C:A Identity +NM_001040113.2:c.4733C>T NP_001035202.1:p.Ala1578Val NC_000016.10:15720917:G:A p.(Ala1578Val) NC_000016.10:15720917:G:A p.(Ala1578Val) NC_000016.10:15720917:G:A Identity +NM_001128166.3:c.1448A>G NP_001121638.1:p.Gln483Arg NC_000023.11:111216460:A:G p.(Gln483Arg) NC_000023.11:111216460:A:G p.(Gln483Arg) NC_000023.11:111216460:A:G Identity +NM_001170414.2:c.652C>T NP_001163885.1:p.Arg218Cys NC_000009.12:69221264:C:T p.(Arg218Cys) NC_000009.12:69221264:C:T p.(Arg218Cys) NC_000009.12:69221264:C:T Identity +NM_001098668.4:c.241G>A NP_001092138.1:p.Val81Ile NC_000010.11:79558936:C:T p.(Val81Ile) NC_000010.11:79558936:C:T p.(Val81Ile) NC_000010.11:79558936:C:T Identity +NM_001411054.1:c.3920C>T NP_001397983.1:p.Thr1307Met NC_000014.9:102944300:G:A p.(Thr1307Met) NC_000014.9:102944300:G:A p.(Thr1307Met) NC_000014.9:102944300:G:A Identity +NM_001377456.1:c.1700T>C NP_001364385.1:p.Ile567Thr NC_000016.10:56497839:A:G p.(Ile567Thr) NC_000016.10:56497839:A:G p.(Ile567Thr) NC_000016.10:56497839:A:G Identity +NM_020877.5:c.13070T>A NP_065928.2:p.Val4357Asp NC_000017.11:7833161:T:A p.(Val4357Asp) NC_000017.11:7833161:T:A p.(Val4357Asp) NC_000017.11:7833161:T:A Identity +NM_001171653.2:c.391G>T NP_001165124.1:p.Glu131Ter NC_000002.12:144404964:C:A p.(Glu131Ter) NC_000002.12:144404964:C:A p.(Glu131Ter) NC_000002.12:144404964:C:A Identity +NM_000044.6:c.1873A>G NP_000035.2:p.Met625Val NC_000023.11:67686113:A:G p.(Met625Val) NC_000023.11:67686113:A:G p.(Met625Val) NC_000023.11:67686113:A:G Identity +NM_001304548.2:c.8205C>A NP_001291477.1:p.Phe2735Leu NC_000023.11:36310849:C:A p.(Phe2735Leu) NC_000023.11:36310849:C:A p.(Phe2735Leu) NC_000023.11:36310849:C:A Identity +NM_001204197.3:c.1010A>G NP_001191126.1:p.Gln337Arg NC_000013.11:35646271:A:G p.(Gln337Arg) NC_000013.11:35646271:A:G p.(Gln337Arg) NC_000013.11:35646271:A:G Identity +NM_001247997.2:c.80C>T NP_001234926.1:p.Thr27Met NC_000012.12:122380372:G:A p.(Thr27Met) NC_000012.12:122380372:G:A p.(Thr27Met) NC_000012.12:122380372:G:A Identity +NM_000214.3:c.2583dup NP_000205.1:p.Pro862fs NC_000020.11:10641881:T:TT p.(Pro862ThrfsTer17) NC_000020.11:10641881:T:TT p.(Pro862ThrfsTer17) ERR:SPDI Analogous +NM_001845.6:c.2869G>T NP_001836.3:p.Gly957Ter NC_000013.11:110176884:C:A p.(Gly957Ter) NC_000013.11:110176884:C:A p.(Gly957Ter) NC_000013.11:110176884:C:A Identity +NM_001291411.2:c.2615A>T NP_001278340.2:p.Asp872Val NC_000021.9:33551845:A:T p.(Asp872Val) NC_000021.9:33551845:A:T p.(Asp872Val) NC_000021.9:33551845:A:T Identity +NM_000535.7:c.1567T>A NP_000526.2:p.Ser523Thr NC_000007.14:5987197:A:T p.(Ser523Thr) NC_000007.14:5987197:A:T p.(Ser523Thr) NC_000007.14:5987197:A:T Identity +NM_005245.4:c.5144A>T NP_005236.2:p.His1715Leu NC_000004.12:186621441:T:A p.(His1715Leu) NC_000004.12:186621441:T:A p.(His1715Leu) NC_000004.12:186621441:T:A Identity +NM_001362843.2:c.5950A>T NP_001349772.1:p.Met1984Leu NC_000022.11:41177738:A:T p.(Met1984Leu) NC_000022.11:41177738:A:T p.(Met1984Leu) NC_000022.11:41177738:A:T Identity +NM_001105543.2:c.112C>T NP_001099013.1:p.Arg38Trp NC_000007.14:132508581:G:A p.(Arg38Trp) NC_000007.14:132508581:G:A p.(Arg38Trp) NC_000007.14:132508581:G:A Identity +NM_001145853.1:c.1217C>A NP_001139325.1:p.Ala406Asp NC_000004.12:6301011:C:A p.(Ala406Asp) NC_000004.12:6301011:C:A p.(Ala406Asp) NC_000004.12:6301011:C:A Identity +NM_005458.8:c.181C>T NP_005449.5:p.Leu61Phe NC_000009.12:98708556:G:A p.(Leu61Phe) NC_000009.12:98708556:G:A p.(Leu61Phe) NC_000009.12:98708556:G:A Identity +NM_012232.6:c.141_148del NP_036364.2:p.Asp47fs NC_000017.11:42422949:TCACCTGGTC:TC p.(Asp47GlufsTer103) NC_000017.11:42422949:TCACCTGGTC:TC p.(Asp47GlufsTer103) NC_000017.11:42422949:TCACCTGG: Analogous +NM_000092.5:c.953C>T NP_000083.3:p.Ser318Phe NC_000002.12:227101886:G:A p.(Ser318Phe) NC_000002.12:227101886:G:A p.(Ser318Phe) NC_000002.12:227101886:G:A Identity +NM_001354989.2:c.2765C>T NP_001341918.1:p.Pro922Leu NC_000005.10:180619105:G:A p.(Pro922Leu) NC_000005.10:180619105:G:A p.(Pro922Leu) NC_000005.10:180619105:G:A Identity +NM_001351377.2:c.872C>T NP_001338306.1:p.Ala291Val NC_000003.12:39184622:G:A p.(Ala291Val) NC_000003.12:39184622:G:A p.(Ala291Val) NC_000003.12:39184622:G:A Identity +NM_001256876.3:c.2724G>C NP_001243805.1:p.Lys908Asn NC_000009.12:730075:G:C p.(Lys908Asn) NC_000009.12:730075:G:C p.(Lys908Asn) NC_000009.12:730075:G:C Identity +NM_024702.3:c.703A>G NP_078978.2:p.Met235Val NC_000017.11:82831751:T:C p.(Met235Val) NC_000017.11:82831751:T:C p.(Met235Val) NC_000017.11:82831751:T:C Identity +NM_002124.4:c.446G>A NP_002115.2:p.Ser149Asn NC_000006.12:32581762:C:T p.(Ser149Asn) NC_000006.12:32581762:C:T p.(Ser149Asn) NC_000006.12:32581762:C:T Identity +NM_001401501.2:c.42526C>A NP_001388430.1:p.Leu14176Met NC_000019.10:8892963:G:T ERR:TranscriptMismatch:expected C, found A at transcript indices 42578..42579 NC_000019.10:8866085:T:T ERR:NM_001401501.2:c.42526C>A: Variant reference (C) does not agree with reference sequence (A) ERR:NM_001401501.2:c.42526C>A: Variant reference (C) does not agree with reference sequence (A) Unknown +NM_005461.5:c.821T>C NP_005452.2:p.Ile274Thr NC_000020.11:40688029:A:G p.(Ile274Thr) NC_000020.11:40688029:A:G p.(Ile274Thr) NC_000020.11:40688029:A:G Identity +NM_001257374.3:c.134delinsGCTGGA NP_001244303.1:p.Thr45fs NC_000001.11:156130729:C:GCTGGA p.(Thr45SerfsTer22) NC_000001.11:156130729:C:GCTGGA p.(Thr45SerfsTer22) NC_000001.11:156130729:C:GCTGGA Analogous +NM_001145829.2:c.486G>T NP_001139301.1:p.Arg162Ser NC_000011.10:1841487:G:T p.(Arg162Ser) NC_000011.10:1841487:G:T p.(Arg162Ser) NC_000011.10:1841487:G:T Identity +NM_004714.3:c.1256G>T NP_004705.1:p.Arg419Leu NC_000019.10:39826826:C:A p.(Arg419Leu) NC_000019.10:39826826:C:A p.(Arg419Leu) NC_000019.10:39826826:C:A Identity +NM_001386735.1:c.214T>G NP_001373664.1:p.Ser72Ala NC_000016.10:72959931:A:C p.(Ser72Ala) NC_000016.10:72959931:A:C p.(Ser72Ala) NC_000016.10:72959931:A:C Identity +NM_001242809.2:c.1907C>T NP_001229738.1:p.Pro636Leu NC_000006.12:89630726:C:T p.(Pro636Leu) NC_000006.12:89630726:C:T p.(Pro636Leu) NC_000006.12:89630726:C:T Identity +NM_001136504.1:c.548_549delinsGGA NP_001129976.1:p.Leu183fs NC_000001.11:202602461:GA:TCC p.(Leu183ArgfsTer4) NC_000001.11:202602461:GAG:GTCC p.(Leu183ArgfsTer4) NC_000001.11:202602461:GA:TCC Analogous +NM_001271.4:c.1882_1883del NP_001262.3:p.Leu628fs NC_000015.10:92956529:TTT:T p.(Leu628IlefsTer3) NC_000015.10:92956529:TTT:T p.(Leu628IlefsTer3) NC_000015.10:92956530:TT: Analogous +NM_000530.8:c.562del NP_000521.2:p.Ala188fs NC_000001.11:161306350:CC:C p.(Ala188ArgfsTer64) NC_000001.11:161306350:CC:C p.(Ala188ArgfsTer64) NC_000001.11:161306350:C: Analogous +NM_025000.4:c.1171dup NP_079276.2:p.Glu391fs NC_000002.12:171476936:GGG:GGGG p.(Glu391GlyfsTer4) NC_000002.12:171476936:GGG:GGGG p.(Glu391GlyfsTer4) ERR:SPDI Analogous +NM_000548.5:c.875_876insTCGCGCCCCTGCT NP_000539.2:p.Gly294fs NC_000016.10:2058761:CGCGCCCCTGCT:CGCGCCCCTGCTTCGCGCCCCTGCT p.(Gly294AlafsTer48) NC_000016.10:2058772:T:TCGCGCCCCTGCT p.(Gly294AlafsTer48) NC_000016.10:2058773:TG:TCGCGCCCCTGCT Analogous +NM_032737.4:c.151C>T NP_116126.3:p.Arg51Cys NC_000019.10:2456782:G:A p.(Arg51Cys) NC_000019.10:2456782:G:A p.(Arg51Cys) NC_000019.10:2456782:G:A Identity +NM_052845.4:c.659T>C NP_443077.1:p.Leu220Pro NC_000012.12:109557121:A:G p.(Leu220Pro) NC_000012.12:109557121:A:G p.(Leu220Pro) NC_000012.12:109557121:A:G Identity +NM_173354.5:c.1373del NP_775490.2:p.Gln458fs NC_000021.9:43419109:T: p.(Gln458ArgfsTer32) NC_000021.9:43419109:T: p.(Gln458ArgfsTer32) NC_000021.9:43419109:T: Analogous +NM_005602.6:c.179C>G NP_005593.2:p.Thr60Arg NC_000003.12:170419244:C:G p.(Thr60Arg) NC_000003.12:170419244:C:G p.(Thr60Arg) NC_000003.12:170419244:C:G Identity +NM_007230.1:c.1964A>G NP_009161.1:p.His655Arg NC_000009.12:137108562:A:G ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:Data provider error: ValueError: Transcript NM_007230.1 not found ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_007230.1, alt_ac=NM_007230.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_007230.1 not found +NM_001145901.2:c.661C>T NP_001139373.1:p.Arg221Cys NC_000019.10:38919865:G:A p.(Arg221Cys) NC_000019.10:38919865:G:A p.(Arg221Cys) NC_000019.10:38919865:G:A Identity +NM_001142281.2:c.622dup NP_001135753.1:p.Glu208fs NC_000011.10:118590406:GG:GGG p.(Glu208GlyfsTer9) NC_000011.10:118590406:GG:GGG p.(Glu208GlyfsTer9) ERR:SPDI Analogous +NM_001271723.2:c.1328A>G NP_001258652.1:p.Asp443Gly NC_000005.10:148415990:A:G p.(Asp443Gly) NC_000005.10:148415990:A:G p.(Asp443Gly) NC_000005.10:148415990:A:G Identity +NM_001366177.2:c.3917G>T NP_001353106.1:p.Arg1306Leu NC_000001.11:155478952:C:A p.(Arg1306Leu) NC_000001.11:155478952:C:A p.(Arg1306Leu) NC_000001.11:155478952:C:A Identity +NM_001447.3:c.910A>G NP_001438.1:p.Lys304Glu NC_000005.10:151568021:T:C p.(Lys304Glu) NC_000005.10:151568021:T:C p.(Lys304Glu) NC_000005.10:151568021:T:C Identity +NM_014967.5:c.1930C>T NP_055782.3:p.His644Tyr NC_000015.10:30918281:C:T p.(His644Tyr) NC_000015.10:30918281:C:T p.(His644Tyr) NC_000015.10:30918281:C:T Identity +NM_001256182.2:c.2728_2729del NP_001243111.1:p.Arg910fs NC_000016.10:89283812:CT: p.(Arg910GlyfsTer5) NC_000016.10:89283812:CT: p.(Arg910GlyfsTer5) NC_000016.10:89283812:CT: Analogous +NM_006031.6:c.29G>C NP_006022.3:p.Arg10Thr NC_000021.9:46324256:G:C p.(Arg10Thr) NC_000021.9:46324256:G:C p.(Arg10Thr) NC_000021.9:46324256:G:C Identity +NM_001362949.2:c.1355C>T NP_001349878.1:p.Thr452Ile NC_000022.11:33316180:G:A p.(Thr452Ile) NC_000022.11:33316180:G:A p.(Thr452Ile) NC_000022.11:33316180:G:A Identity +NM_001018041.2:c.177del NP_001018051.1:p.Trp60fs NC_000006.12:145735321:C: p.(Trp60GlyfsTer30) NC_000006.12:145735321:C: p.(Trp60GlyfsTer30) NC_000006.12:145735321:C: Analogous +NM_000051.4:c.1743dup NP_000042.3:p.Phe582fs NC_000011.10:108251971:A:AA p.(Phe582IlefsTer7) NC_000011.10:108251971:A:AA p.(Phe582IlefsTer7) ERR:SPDI Analogous +NM_005708.5:c.1193T>G NP_005699.1:p.Val398Gly NC_000013.11:94382453:T:G p.(Val398Gly) NC_000013.11:94382453:T:G p.(Val398Gly) NC_000013.11:94382453:T:G Identity +NM_001318245.2:c.2884A>G NP_001305174.1:p.Thr962Ala NC_000022.11:25828872:A:G p.(Thr962Ala) NC_000022.11:25828872:A:G p.(Thr962Ala) NC_000022.11:25828872:A:G Identity +NM_000833.5:c.2519T>A NP_000824.1:p.Leu840His NC_000016.10:9768926:A:T p.(Leu840His) NC_000016.10:9768926:A:T p.(Leu840His) NC_000016.10:9768926:A:T Identity +NM_001003800.2:c.535C>T NP_001003800.1:p.Gln179Ter NC_000009.12:92722726:G:A p.(Gln179Ter) NC_000009.12:92722726:G:A p.(Gln179Ter) NC_000009.12:92722726:G:A Identity +NM_001020658.2:c.2342G>A NP_001018494.1:p.Ser781Asn NC_000001.11:30953962:C:T p.(Ser781Asn) NC_000001.11:30953962:C:T p.(Ser781Asn) NC_000001.11:30953962:C:T Identity +NM_000296.4:c.5744C>T NP_000287.4:p.Ser1915Leu NC_000016.10:2109422:G:A p.(Ser1915Leu) NC_000016.10:2109422:G:A p.(Ser1915Leu) NC_000016.10:2109422:G:A Identity +NM_001328635.2:c.715G>A NP_001315564.1:p.Val239Met NC_000001.11:175386094:C:T p.(Val239Met) NC_000001.11:175386094:C:T p.(Val239Met) NC_000001.11:175386094:C:T Identity +NM_001270449.2:c.518C>A NP_001257378.1:p.Ser173Ter NC_000012.12:109488641:C:A p.(Ser173Ter) NC_000012.12:109488641:C:A p.(Ser173Ter) NC_000012.12:109488641:C:A Identity +NM_001424113.1:c.4285G>A NP_001411042.1:p.Glu1429Lys NC_000006.12:75148359:C:T p.(Glu1429Lys) NC_000006.12:75148359:C:T p.(Glu1429Lys) NC_000006.12:75148359:C:T Identity +NM_000448.3:c.2882G>T NP_000439.2:p.Ser961Ile NC_000011.10:36576185:G:T p.(Ser961Ile) NC_000011.10:36576185:G:T p.(Ser961Ile) NC_000011.10:36576185:G:T Identity +NM_001204760.2:c.629G>A NP_001191689.1:p.Cys210Tyr NC_000004.12:165995174:G:A p.(Cys210Tyr) NC_000004.12:165995174:G:A p.(Cys210Tyr) NC_000004.12:165995174:G:A Identity +NM_001168388.3:c.754G>T NP_001161860.1:p.Glu252Ter NC_000006.12:139373190:C:A p.(Glu252Ter) NC_000006.12:139373190:C:A p.(Glu252Ter) NC_000006.12:139373190:C:A Identity +NM_000296.4:c.2857T>G NP_000287.4:p.Tyr953Asp NC_000016.10:2113288:A:C p.(Tyr953Asp) NC_000016.10:2113288:A:C p.(Tyr953Asp) NC_000016.10:2113288:A:C Identity +NM_000352.6:c.4297G>C NP_000343.2:p.Gly1433Arg NC_000011.10:17395619:C:G p.(Gly1433Arg) NC_000011.10:17395619:C:G p.(Gly1433Arg) NC_000011.10:17395619:C:G Identity +NM_001282164.2:c.667G>A NP_001269093.1:p.Gly223Ser NC_000012.12:132620582:G:A p.(Gly223Ser) NC_000012.12:132620582:G:A p.(Gly223Ser) NC_000012.12:132620582:G:A Identity +NM_001164144.3:c.2027dup NP_001157616.1:p.Glu677fs NC_000013.11:114325867:CC:CCC p.(Glu677ArgfsTer4) NC_000013.11:114325867:CC:CCC p.(Glu677ArgfsTer4) ERR:SPDI Analogous +NM_001110792.2:c.609del NP_001104262.1:p.Ser206fs NC_000023.11:154031254:GGGG:GGG p.(Ser206AlafsTer16) NC_000023.11:154031254:GGGG:GGG p.(Ser206AlafsTer16) NC_000023.11:154031254:G: Analogous +NM_001110792.2:c.542_543dup NP_001104262.1:p.Gln182fs NC_000023.11:154031320:CTCTC:CTCTCTC p.(Gln182SerfsTer41) NC_000023.11:154031320:CTCTC:CTCTCTC p.(Gln182SerfsTer41) ERR:SPDI Analogous +NM_001145661.2:c.79C>T NP_001139133.1:p.Pro27Ser NC_000003.12:128486952:G:A p.(Pro27Ser) NC_000003.12:128486952:G:A p.(Pro27Ser) NC_000003.12:128486952:G:A Identity +NM_152268.4:c.287G>A NP_689481.2:p.Arg96His NC_000001.11:54758874:C:T p.(Arg96His) NC_000001.11:54758874:C:T p.(Arg96His) NC_000001.11:54758874:C:T Identity +NM_001164239.2:c.1562TCT[1] NP_001157711.1:p.Phe522del NC_000006.12:30660039:AGAAGA:AGA p.(Phe522del) NC_000006.12:30660044:A:AGA ERR:Parse ERR:Parse Identity +NM_000294.3:c.348dup NP_000285.1:p.Asp117Ter NC_000016.10:30753250:TTT:TTTT p.(Asp117Ter) NC_000016.10:30753250:TTT:TTTT p.(Asp117Ter) ERR:SPDI Identity +NM_001257191.3:c.1231T>C NP_001244120.1:p.Phe411Leu NC_000011.10:118755446:A:G p.(Phe411Leu) NC_000011.10:118755446:A:G p.(Phe411Leu) NC_000011.10:118755446:A:G Identity +NM_001142445.2:c.203G>A NP_001135917.1:p.Arg68Gln NC_000008.11:41664820:C:T p.(Arg68Gln) NC_000008.11:41664820:C:T p.(Arg68Gln) NC_000008.11:41664820:C:T Identity +NM_138295.5:c.1543G>A NP_612152.1:p.Gly515Arg NC_000007.14:47905304:C:T p.(Gly515Arg) NC_000007.14:47905304:C:T p.(Gly515Arg) NC_000007.14:47905304:C:T Identity +NM_020856.4:c.188C>T NP_065907.2:p.Pro63Leu NC_000019.10:31279604:G:A p.(Pro63Leu) NC_000019.10:31279604:G:A p.(Pro63Leu) NC_000019.10:31279604:G:A Identity +NM_032043.3:c.1781T>G NP_114432.2:p.Leu594Ter NC_000017.11:61780852:A:C p.(Leu594Ter) NC_000017.11:61780852:A:C p.(Leu594Ter) NC_000017.11:61780852:A:C Identity +NM_138694.4:c.5538C>A NP_619639.3:p.Cys1846Ter NC_000006.12:52017471:G:T p.(Cys1846Ter) NC_000006.12:52017471:G:T p.(Cys1846Ter) NC_000006.12:52017471:G:T Identity +NM_004501.3:c.1951A>G NP_004492.2:p.Lys651Glu NC_000001.11:244856062:T:C p.(Lys651Glu) NC_000001.11:244856062:T:C p.(Lys651Glu) NC_000001.11:244856062:T:C Identity +NM_000294.3:c.166del NP_000285.1:p.Glu56fs NC_000016.10:30751174:GG:G p.(Glu56LysfsTer2) NC_000016.10:30751174:GG:G p.(Glu56LysfsTer2) NC_000016.10:30751175:G: Analogous +NM_000059.3:c.1028_1047del20 NP_000050.2:p.Lys343Argfs NC_000013.11:32332499:GTGAAAAATCTAAAAACCAAGTGAAA:GTGAAA ERR:Data provider error: ValueError: Transcript NM_000059.3 not found ERR:Data provider error: ValueError: Transcript NM_000059.3 not found ERR:AlignmentMapper(tx_ac=NM_000059.3, alt_ac=NM_000059.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000059.3, alt_ac=NM_000059.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000059.3 not found +NM_014714.4:c.984_985insG NP_055529.2:p.Cys329fs NC_000016.10:1587222::C p.(Cys329ValfsTer6) NC_000016.10:1587221:A:C p.(Cys329ValfsTer6) NC_000016.10:1587222:AG:C Analogous +NM_002943.4:c.1049_1050delinsAA NP_002934.1:p.Ile350Lys NC_000015.10:60503634:GA:TT p.(Ile350Lys) NC_000015.10:60503634:GA:TT p.(Ile350Lys) NC_000015.10:60503634:GA:TT Identity +NM_001144881.2:c.2287T>A NP_001138353.1:p.Cys763Ser NC_000012.12:42460017:A:T p.(Cys763Ser) NC_000012.12:42460017:A:T p.(Cys763Ser) NC_000012.12:42460017:A:T Identity +NM_000089.4:c.299G>A NP_000080.2:p.Gly100Asp NC_000007.14:94404574:G:A p.(Gly100Asp) NC_000007.14:94404574:G:A p.(Gly100Asp) NC_000007.14:94404574:G:A Identity +NM_001080463.2:c.6035C>T NP_001073932.1:p.Ala2012Val NC_000011.10:103177715:C:T p.(Ala2012Val) NC_000011.10:103177715:C:T p.(Ala2012Val) NC_000011.10:103177715:C:T Identity +NM_001256534.2:c.142T>C NP_001243463.1:p.Cys48Arg NC_000022.11:19178213:A:G p.(Cys48Arg) NC_000022.11:19178213:A:G p.(Cys48Arg) NC_000022.11:19178213:A:G Identity +NM_001256850.1:c.73762A>T NP_001243779.1:p.Arg24588Ter NC_000002.12:178567446:T:A p.(Arg24588Ter) NC_000002.12:178567446:T:A p.(Arg24588Ter) NC_000002.12:178567446:T:A Identity +NM_001195263.2:c.881A>G NP_001182192.1:p.Tyr294Cys NC_000010.11:101020664:T:C p.(Tyr294Cys) NC_000010.11:101020664:T:C p.(Tyr294Cys) NC_000010.11:101020664:T:C Identity +NM_001363734.1:c.926C>G NP_001350663.1:p.Ser309Ter NC_000020.11:32433306:C:G p.(Ser309Ter) NC_000020.11:32433306:C:G p.(Ser309Ter) NC_000020.11:32433306:C:G Identity +NM_001077690.1:c.65_66insTC NP_001071158.1:p.Ala23fs NC_000011.10:111871417:G:GAG p.(Ala23ArgfsTer54) NC_000011.10:111871416:C:GA p.(Ala23ArgfsTer54) NC_000011.10:111871417:CG:GA Analogous +NM_001001344.3:c.3547A>T NP_001001344.1:p.Asn1183Tyr NC_000023.11:153580181:A:T p.(Asn1183Tyr) NC_000023.11:153580181:A:T p.(Asn1183Tyr) NC_000023.11:153580181:A:T Identity +NM_000048.4:c.944A>G NP_000039.2:p.Lys315Arg NC_000007.14:66089300:A:G p.(Lys315Arg) NC_000007.14:66089300:A:G p.(Lys315Arg) NC_000007.14:66089300:A:G Identity +NM_000445.5:c.2252A>G NP_000436.2:p.Tyr751Cys NC_000008.11:143931943:T:C p.(Tyr751Cys) NC_000008.11:143931943:T:C p.(Tyr751Cys) NC_000008.11:143931943:T:C Identity +NM_002016.2:c.4676C>A NP_002007.1:p.Ser1559Ter NC_000001.11:152310209:G:T p.(Ser1559Ter) NC_000001.11:152310209:G:T p.(Ser1559Ter) NC_000001.11:152310209:G:T Identity +NM_001301242.2:c.670dup NP_001288171.1:p.Leu224fs NC_000017.11:81868708:GGGGGG:GGGGGGG p.(Leu224ProfsTer148) NC_000017.11:81868708:GGGGGG:GGGGGGG p.(Leu224ProfsTer148) ERR:SPDI Analogous +NM_001999.4:c.3190G>A NP_001990.2:p.Val1064Ile NC_000005.10:128345383:C:T p.(Val1064Ile) NC_000005.10:128345383:C:T p.(Val1064Ile) NC_000005.10:128345383:C:T Identity +NM_005691.4:c.4513C>A NP_005682.2:p.His1505Asn NC_000012.12:21805310:G:T p.(His1505Asn) NC_000012.12:21805310:G:T p.(His1505Asn) NC_000012.12:21805310:G:T Identity +NM_001127897.4:c.2045T>G NP_001121369.1:p.Val682Gly NC_000016.10:53652641:A:C p.(Val682Gly) NC_000016.10:53652641:A:C p.(Val682Gly) NC_000016.10:53652641:A:C Identity +NM_006494.4:c.158G>C NP_006485.2:p.Gly53Ala NC_000019.10:42250429:C:G p.(Gly53Ala) NC_000019.10:42250429:C:G p.(Gly53Ala) NC_000019.10:42250429:C:G Identity +NM_001110792.2:c.865del NP_001104262.1:p.Ala289fs NC_000023.11:154030998:CC:C p.(Ala289GlnfsTer12) NC_000023.11:154030998:CC:C p.(Ala289GlnfsTer12) NC_000023.11:154030998:C: Analogous +NM_000090.4:c.3779del NP_000081.2:p.Arg1260fs NC_000002.12:189009176:G: p.(Arg1260LysfsTer6) NC_000002.12:189009176:G: p.(Arg1260LysfsTer6) NC_000002.12:189009176:G: Analogous +NM_000555.3:c.773T>G NP_000546.2:p.Val258Gly NC_000023.11:111401164:A:C p.(Val258Gly) NC_000023.11:111401164:A:C p.(Val258Gly) NC_000023.11:111401164:A:C Identity +NM_001076683.2:c.2125G>A NP_001070151.1:p.Glu709Lys NC_000017.11:44207300:C:T p.(Glu709Lys) NC_000017.11:44207300:C:T p.(Glu709Lys) NC_000017.11:44207300:C:T Identity +NM_000435.3:c.6904C>T NP_000426.2:p.Gln2302Ter NC_000019.10:15160723:G:A p.(Gln2302Ter) NC_000019.10:15160723:G:A p.(Gln2302Ter) NC_000019.10:15160723:G:A Identity +NM_001165963.4:c.3668T>G NP_001159435.1:p.Phe1223Cys NC_000002.12:166013780:A:C p.(Phe1223Cys) NC_000002.12:166013780:A:C p.(Phe1223Cys) NC_000002.12:166013780:A:C Identity +NM_001441.3:c.549del NP_001432.2:p.His184fs NC_000001.11:46405475:G: p.(His184ThrfsTer22) NC_000001.11:46405475:G: p.(His184ThrfsTer22) NC_000001.11:46405475:G: Analogous +NM_001411068.1:c.939G>A NP_001397997.1:p.Trp313Ter NC_000015.10:68208232:C:T p.(Trp313Ter) NC_000015.10:68208232:C:T p.(Trp313Ter) NC_000015.10:68208232:C:T Identity +NM_001109662.4:c.6917A>G NP_001103132.4:p.Asp2306Gly NC_000012.12:112226725:T:C p.(Asp2306Gly) NC_000012.12:112226725:T:C p.(Asp2306Gly) NC_000012.12:112226725:T:C Identity +NM_001286771.3:c.1588G>A NP_001273700.1:p.Val530Ile NC_000004.12:73144774:C:T p.(Val530Ile) NC_000004.12:73144774:C:T p.(Val530Ile) NC_000004.12:73144774:C:T Identity +NM_170606.3:c.11899A>G NP_733751.2:p.Lys3967Glu NC_000007.14:152155970:T:C p.(Lys3967Glu) NC_000007.14:152155970:T:C p.(Lys3967Glu) NC_000007.14:152155970:T:C Identity +NM_016327.3:c.505C>T NP_057411.1:p.Arg169Ter NC_000022.11:24513368:C:T p.(Arg169Ter) NC_000022.11:24513368:C:T p.(Arg169Ter) NC_000022.11:24513368:C:T Identity +NM_001110792.2:c.1229A>C NP_001104262.1:p.Asp410Ala NC_000023.11:154030634:T:G p.(Asp410Ala) NC_000023.11:154030634:T:G p.(Asp410Ala) NC_000023.11:154030634:T:G Identity +NM_001286445.3:c.280C>T NP_001273374.1:p.Pro94Ser NC_000006.12:24873707:G:A p.(Pro94Ser) NC_000006.12:24873707:G:A p.(Pro94Ser) NC_000006.12:24873707:G:A Identity +NM_001366177.2:c.1568C>T NP_001353106.1:p.Pro523Leu NC_000001.11:155481301:G:A p.(Pro523Leu) NC_000001.11:155481301:G:A p.(Pro523Leu) NC_000001.11:155481301:G:A Identity +NM_000373.4:c.2T>A NP_000364.1:p.Met1Lys NC_000003.12:124730472:T:A p.(Met1Lys) NC_000003.12:124730472:T:A p.Met1? NC_000003.12:124730472:T:A Identity +NM_001291415.2:c.2734G>A NP_001278344.1:p.Glu912Lys NC_000023.11:45070232:G:A p.(Glu912Lys) NC_000023.11:45070232:G:A p.(Glu912Lys) NC_000023.11:45070232:G:A Identity +NM_001166005.2:c.1369G>A NP_001159477.1:p.Glu457Lys NC_000001.11:29035828:G:A p.(Glu457Lys) NC_000001.11:29035828:G:A p.(Glu457Lys) NC_000001.11:29035828:G:A Identity +NM_001304840.3:c.1183G>A NP_001291769.1:p.Glu395Lys NC_000002.12:196318638:C:T p.(Glu395Lys) NC_000002.12:196318638:C:T p.(Glu395Lys) NC_000002.12:196318638:C:T Identity +NM_001270.4:c.3514G>T NP_001261.2:p.Val1172Leu NC_000005.10:98873649:C:A p.(Val1172Leu) NC_000005.10:98873649:C:A p.(Val1172Leu) NC_000005.10:98873649:C:A Identity +NM_000072.3:c.1345_1348del NP_000063.2:p.Leu449fs NC_000007.14:80674071:ACTCA:A p.(Leu449ValfsTer5) NC_000007.14:80674071:ACTCA:A p.(Leu449ValfsTer5) NC_000007.14:80674072:CTCA: Analogous +NM_001105243.2:c.2779C>T NP_001098713.1:p.Arg927Trp NC_000023.11:100296803:G:A p.(Arg927Trp) NC_000023.11:100296803:G:A p.(Arg927Trp) NC_000023.11:100296803:G:A Identity +NM_001256213.2:c.2104A>C NP_001243142.1:p.Ile702Leu NC_000019.10:41976438:T:G p.(Ile702Leu) NC_000019.10:41976438:T:G p.(Ile702Leu) NC_000019.10:41976438:T:G Identity +NM_020928.2:c.3407C>A NP_065979.1:p.Ala1136Asp NC_000005.10:61544075:C:A p.(Ala1136Asp) NC_000005.10:61544075:C:A p.(Ala1136Asp) NC_000005.10:61544075:C:A Identity +NM_017934.7:c.941T>G NP_060404.4:p.Phe314Cys NC_000006.12:79019141:A:C p.(Phe314Cys) NC_000006.12:79019141:A:C p.(Phe314Cys) NC_000006.12:79019141:A:C Identity +NM_001256876.3:c.386T>C NP_001243805.1:p.Leu129Pro NC_000009.12:711151:T:C p.(Leu129Pro) NC_000009.12:711151:T:C p.(Leu129Pro) NC_000009.12:711151:T:C Identity +NM_000810.4:c.551C>T NP_000801.1:p.Ala184Val NC_000015.10:26914855:C:T p.(Ala184Val) NC_000015.10:26914855:C:T p.(Ala184Val) NC_000015.10:26914855:C:T Identity +NM_000053.4:c.4103T>C NP_000044.2:p.Leu1368Pro NC_000013.11:51935613:A:G p.(Leu1368Pro) NC_000013.11:51935613:A:G p.(Leu1368Pro) NC_000013.11:51935613:A:G Identity +NM_000215.4:c.658G>C NP_000206.2:p.Ala220Pro NC_000019.10:17842518:C:G p.(Ala220Pro) NC_000019.10:17842518:C:G p.(Ala220Pro) NC_000019.10:17842518:C:G Identity +NM_021615.5:c.494G>C NP_067628.1:p.Cys165Ser NC_000016.10:75479334:C:G p.(Cys165Ser) NC_000016.10:75479334:C:G p.(Cys165Ser) NC_000016.10:75479334:C:G Identity +NM_001163673.2:c.1270G>A NP_001157145.1:p.Val424Met NC_000017.11:1733915:G:A p.(Val424Met) NC_000017.11:1733915:G:A p.(Val424Met) NC_000017.11:1733915:G:A Identity +NM_018149.7:c.1207G>T NP_060619.4:p.Gly403Cys NC_000017.11:59211257:G:T p.(Gly403Cys) NC_000017.11:59211257:G:T p.(Gly403Cys) NC_000017.11:59211257:G:T Identity +NM_001198532.1:c.1031A>G NP_001185461.1:p.Glu344Gly NC_000008.11:106706548:A:G p.(Glu344Gly) NC_000008.11:106706548:A:G p.(Glu344Gly) NC_000008.11:106706548:A:G Identity +NM_005445.4:c.1900C>T NP_005436.1:p.Arg634Cys NC_000010.11:110593159:C:T p.(Arg634Cys) NC_000010.11:110593159:C:T p.(Arg634Cys) NC_000010.11:110593159:C:T Identity +NM_020247.5:c.1014del NP_064632.2:p.Ala339fs NC_000001.11:226982966:CC:C p.(Ala339HisfsTer11) NC_000001.11:226982966:CC:C p.(Ala339HisfsTer11) NC_000001.11:226982967:C: Analogous +NM_007118.4:c.6083_6084insT NP_009049.2:p.Phe2029fs NC_000005.10:14476893::T p.(Phe2029LeufsTer11) NC_000005.10:14474096:AGTACGTAAACATGCATTGTGCCCGATGGTGTGCAAAGCAGCCACACTTGCTAAACCAAGGCAGGCCAGGCCAAAGGGAATTTATTCTGTTCATCGTATTACCTGTGTAGCCTCCTGGAGGGAGCTGGTGCAAAGGAGATATTGATGTACCCAGGAGTTCTGCAGTAGCATTTGGTGGCACGGAGAGAGTCTTGTCTCTTCTTCGTGCTGGTCCATGTCGAGAGTCTGTGGAAGGGAGTAGCTGGAAGCACCAGCGTGGAGCCAGCTGCCGGAGCTGCTGGCCTGGTCCTGACCCCGAGCCCTCGGCCTCCCTGCTGTACACTTCCATTCTTCATCTGCACACCCACATTATAATGTGGGTTTTTTGTGAAGAGTGACTGAGTTAATACTTTTACCTCGTGGGTTTTTTGTGAAGAGTGACTGAGTTAATACTTTTACAGAGTACTTAGAACAACATCTGCATAGAATAAGCTTCAAGTATTTCTAACTAGAATTGCAGCCATCTTTAGAATAAATACAAGTTATCATTAGAGGACCTTGAAGACACTCATTTGTCCAATTATTTTATGTTATTTTTATTTTTTAGAGACAGGGTCTTGCTCTGTCACCAAACTGGAGTGTAATAGTGCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTAATCCTCCCGCCTCAGCATCTCTCAGCATCTCTAGTAGCTGGGCCTACAGGCACGCAGCACCATGTGCAGCTAACTTTTTTGGTTTTCGTAGACAAACACGGGCTTGCTGTGTTGCCTAAGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCAATTCAATTTTAATGGAAAAAGTAGACACGATTGCCCATGAAATTCAACTCTGATCCCACTACATTCCCCACACCTATCCTAATCAGGAGGCAATCCATCTGGGGGCTGGTGCTACGTAGCTCACCTTGGCTACCAGAGCTTGTCAACATACCTGTCCCTTTAGATCACTTTGCTTAAACTTTAAAAATCCTTAATCATCTGAGGATTGCTTAATGCTGGCCACTGGTCTTCCAGTGGAATGTTCCAGATGCACTGTCTGCTCCGGTTACCTGGCCGGGCCTTCTGCTCTCCTGTCTTGATGCAACTGCTCCTCCCTCTGCTCAGGGTGGAGCACGATGTCATCACCTCCAAAGCTCTGGCCTCTCTCTGAAGCTGAGCTCCATACTTGCTTCTCCATTAGGCCTGGGTGTTCCCCATCAGACTCCTTCTCTTCTGCAGAAGCAGATGGGAATATGCTCTTTTAAACTATGAGATACTGGACAGACATGAGGAGGAACTACCGTGTCACGTATCAAGTAGTGTTGTTATTTCTGTGCTTCTCCCTCCTAACAGAATGTAAAACCTTTGAACCCAGGTCAGAGAGGTCTTTATTTTCATATCCCCTGTGATGTCTAATTTATTTGGATTTACAGATAAATGATCGGTAAACTTTAGAAACAGCACTCCAGTTTATAGCTCTGTGCTGTAGACTTACTGAACAACTACAGTGAAACCAATTCAAAAAGGGATATTTTGTATTATGATTTAGTCTCCTACTTCCAAGGCTAGTTTTTAAGGCTGTGAAGGGAAGCTGAAAATGACACAGTGTTTCTGGGATGACCAGACAGACACTGTATCCAGAGATGCTGTCTGCGCAGCGGGGATAGTAAACCCCTTAGTACAACATTAATTGGCATGGTGGTTTATGAGTTAATGTAATACCAAATATTAACATAAATAAAAATATATTTAAGTGATAACTAAGCTGGACATATATCTTAAAAGACAACTACAGCCCAGAAAACAATGAACATTGTTGTCCTACAGCTATTTTGTCACTGTGATGATACCTAATTTTAATCTTAAAGGGAGCTGATGTTTATAACCTAGAAGTTGATTTTGATAACATTTGAGAAAACTTCATAAAGCTGGCACAGGTAACATATTTAGTTTTGTATATCTGCTGTCCAATTTGAGTCTCTAAAAATTATCTTAGAATGAATATGAAATTCGCAGGTATAAAGACCAAGTTTTCAGAAATAAAAAATGTCCAAGTACTTTGAAACATCTATTTTTCACTCATTATTCAGCCTAGGATATTAGCACTTGTGTCCTTGAACAGAGATGAGAATGTTTGTTATCCAAAGACCAGGAAGGTCACCAGCCAAGGGATATACAGTCGTGCCTCATCTTCTGTGCCTTTGTATTCCTTTATGCTTTGTAGCTTAACAAAAGGTTTTCCTTGTACTTGTTAAGTTTCCATATATTTGTTAAATATATACTTCACACTTCACAGTTGCTCATGTCAGAACAGACTATTGAAAATGTAAACCTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTATCTGCTAAAAATGCCAAAAAATTAGCTAGGCATAGTGGTGCACGCCTATAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCCAGCCTAGGTGATAGAGTGACACTCTCTCAAAAAAAAAAAAGAAAAAAAGAAAAAGAAAAAATGTAAACCTAAATCTAAAATTAGAAGGCCACACTGGAAATAGTTCTAATATTTTCTCCTTTCTTTCCAG:T p.(Phe2029LeufsTer11) NC_000005.10:14474097:GTACGTAAACATGCATTGTGCCCGATGGTGTGCAAAGCAGCCACACTTGCTAAACCAAGGCAGGCCAGGCCAAAGGGAATTTATTCTGTTCATCGTATTACCTGTGTAGCCTCCTGGAGGGAGCTGGTGCAAAGGAGATATTGATGTACCCAGGAGTTCTGCAGTAGCATTTGGTGGCACGGAGAGAGTCTTGTCTCTTCTTCGTGCTGGTCCATGTCGAGAGTCTGTGGAAGGGAGTAGCTGGAAGCACCAGCGTGGAGCCAGCTGCCGGAGCTGCTGGCCTGGTCCTGACCCCGAGCCCTCGGCCTCCCTGCTGTACACTTCCATTCTTCATCTGCACACCCACATTATAATGTGGGTTTTTTGTGAAGAGTGACTGAGTTAATACTTTTACCTCGTGGGTTTTTTGTGAAGAGTGACTGAGTTAATACTTTTACAGAGTACTTAGAACAACATCTGCATAGAATAAGCTTCAAGTATTTCTAACTAGAATTGCAGCCATCTTTAGAATAAATACAAGTTATCATTAGAGGACCTTGAAGACACTCATTTGTCCAATTATTTTATGTTATTTTTATTTTTTAGAGACAGGGTCTTGCTCTGTCACCAAACTGGAGTGTAATAGTGCGATCATAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTAATCCTCCCGCCTCAGCATCTCTCAGCATCTCTAGTAGCTGGGCCTACAGGCACGCAGCACCATGTGCAGCTAACTTTTTTGGTTTTCGTAGACAAACACGGGCTTGCTGTGTTGCCTAAGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCAATTCAATTTTAATGGAAAAAGTAGACACGATTGCCCATGAAATTCAACTCTGATCCCACTACATTCCCCACACCTATCCTAATCAGGAGGCAATCCATCTGGGGGCTGGTGCTACGTAGCTCACCTTGGCTACCAGAGCTTGTCAACATACCTGTCCCTTTAGATCACTTTGCTTAAACTTTAAAAATCCTTAATCATCTGAGGATTGCTTAATGCTGGCCACTGGTCTTCCAGTGGAATGTTCCAGATGCACTGTCTGCTCCGGTTACCTGGCCGGGCCTTCTGCTCTCCTGTCTTGATGCAACTGCTCCTCCCTCTGCTCAGGGTGGAGCACGATGTCATCACCTCCAAAGCTCTGGCCTCTCTCTGAAGCTGAGCTCCATACTTGCTTCTCCATTAGGCCTGGGTGTTCCCCATCAGACTCCTTCTCTTCTGCAGAAGCAGATGGGAATATGCTCTTTTAAACTATGAGATACTGGACAGACATGAGGAGGAACTACCGTGTCACGTATCAAGTAGTGTTGTTATTTCTGTGCTTCTCCCTCCTAACAGAATGTAAAACCTTTGAACCCAGGTCAGAGAGGTCTTTATTTTCATATCCCCTGTGATGTCTAATTTATTTGGATTTACAGATAAATGATCGGTAAACTTTAGAAACAGCACTCCAGTTTATAGCTCTGTGCTGTAGACTTACTGAACAACTACAGTGAAACCAATTCAAAAAGGGATATTTTGTATTATGATTTAGTCTCCTACTTCCAAGGCTAGTTTTTAAGGCTGTGAAGGGAAGCTGAAAATGACACAGTGTTTCTGGGATGACCAGACAGACACTGTATCCAGAGATGCTGTCTGCGCAGCGGGGATAGTAAACCCCTTAGTACAACATTAATTGGCATGGTGGTTTATGAGTTAATGTAATACCAAATATTAACATAAATAAAAATATATTTAAGTGATAACTAAGCTGGACATATATCTTAAAAGACAACTACAGCCCAGAAAACAATGAACATTGTTGTCCTACAGCTATTTTGTCACTGTGATGATACCTAATTTTAATCTTAAAGGGAGCTGATGTTTATAACCTAGAAGTTGATTTTGATAACATTTGAGAAAACTTCATAAAGCTGGCACAGGTAACATATTTAGTTTTGTATATCTGCTGTCCAATTTGAGTCTCTAAAAATTATCTTAGAATGAATATGAAATTCGCAGGTATAAAGACCAAGTTTTCAGAAATAAAAAATGTCCAAGTACTTTGAAACATCTATTTTTCACTCATTATTCAGCCTAGGATATTAGCACTTGTGTCCTTGAACAGAGATGAGAATGTTTGTTATCCAAAGACCAGGAAGGTCACCAGCCAAGGGATATACAGTCGTGCCTCATCTTCTGTGCCTTTGTATTCCTTTATGCTTTGTAGCTTAACAAAAGGTTTTCCTTGTACTTGTTAAGTTTCCATATATTTGTTAAATATATACTTCACACTTCACAGTTGCTCATGTCAGAACAGACTATTGAAAATGTAAACCTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTATCTGCTAAAAATGCCAAAAAATTAGCTAGGCATAGTGGTGCACGCCTATAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCCAGCCTAGGTGATAGAGTGACACTCTCTCAAAAAAAAAAAAGAAAAAAAGAAAAAGAAAAAATGTAAACCTAAATCTAAAATTAGAAGGCCACACTGGAAATAGTTCTAATATTTTCTCCTTTCTTTCCAG:T Analogous +NM_000283.4:c.241del NP_000274.3:p.Arg81fs NC_000004.12:625866:C: p.(Arg81GlyfsTer69) NC_000004.12:625866:C: p.(Arg81GlyfsTer69) NC_000004.12:625866:C: Analogous +NM_001378418.1:c.2779C>T NP_001365347.1:p.Gln927Ter NC_000022.11:42212526:G:A p.(Gln927Ter) NC_000022.11:42212526:G:A p.(Gln927Ter) NC_000022.11:42212526:G:A Identity +NM_000444.6:c.1717G>A NP_000435.3:p.Ala573Thr NC_000023.11:22219051:G:A p.(Ala573Thr) NC_000023.11:22219051:G:A p.(Ala573Thr) NC_000023.11:22219051:G:A Identity +NM_005630.3:c.209_210insA NP_005621.2:p.Leu72fs NC_000003.12:133979505::T p.(Leu72SerfsTer7) NC_000003.12:133979504:C:T p.(Leu72SerfsTer7) NC_000003.12:133979505:CG:T Analogous +NM_006593.4:c.880A>C NP_006584.1:p.Asn294His NC_000002.12:161418232:A:C p.(Asn294His) NC_000002.12:161418232:A:C p.(Asn294His) NC_000002.12:161418232:A:C Identity +NM_001255982.2:c.82_94del NP_001242911.1:p.Ala28fs NC_000002.12:3604419:CGGCTGGCGATGACG:CG p.(Ala28ProfsTer45) NC_000002.12:3604419:CGGCTGGCGATGACG:CG p.(Ala28ProfsTer45) NC_000002.12:3604421:GCTGGCGATGACG: Analogous +NM_000527.5:c.971G>T NP_000518.1:p.Gly324Val NC_000019.10:11110681:G:T p.(Gly324Val) NC_000019.10:11110681:G:T p.(Gly324Val) NC_000019.10:11110681:G:T Identity +NM_005157.6:c.683T>C NP_005148.2:p.Val228Ala NC_000009.12:130862895:T:C p.(Val228Ala) NC_000009.12:130862895:T:C p.(Val228Ala) NC_000009.12:130862895:T:C Identity +NM_000335.5:c.5899A>G NP_000326.2:p.Ile1967Val NC_000003.12:38550469:T:C p.(Ile1967Val) NC_000003.12:38550469:T:C p.(Ile1967Val) NC_000003.12:38550469:T:C Identity +NM_001260.3:c.1163C>A NP_001251.1:p.Pro388Gln NC_000013.11:26401517:C:A p.(Pro388Gln) NC_000013.11:26401517:C:A p.(Pro388Gln) NC_000013.11:26401517:C:A Identity +NM_000296.4:c.11924G>T NP_000287.4:p.Ser3975Ile NC_000016.10:2090959:C:A p.(Ser3975Ile) NC_000016.10:2090959:C:A p.(Ser3975Ile) NC_000016.10:2090959:C:A Identity +NM_000444.6:c.1481C>G NP_000435.3:p.Ala494Gly NC_000023.11:22168387:C:G p.(Ala494Gly) NC_000023.11:22168387:C:G p.(Ala494Gly) NC_000023.11:22168387:C:G Identity +NM_032043.3:c.3349del NP_114432.2:p.Ser1117fs NC_000017.11:61683696:AA:A p.(Ser1117GlnfsTer33) NC_000017.11:61683696:AA:A p.(Ser1117GlnfsTer33) NC_000017.11:61683696:A: Analogous +NM_001394998.1:c.6154T>C NP_001381927.1:p.Ser2052Pro NC_000017.11:63421883:T:C p.(Ser2052Pro) NC_000017.11:63421883:T:C p.(Ser2052Pro) NC_000017.11:63421883:T:C Identity +NM_054021.2:c.17C>G NP_473362.1:p.Thr6Ser NC_000023.11:137031657:G:C p.(Thr6Ser) NC_000023.11:137031657:G:C p.(Thr6Ser) NC_000023.11:137031657:G:C Identity +NM_001407296.1:c.1736G>C NP_001394225.1:p.Ser579Thr NC_000016.10:23630357:C:G p.(Ser579Thr) NC_000016.10:23630357:C:G p.(Ser579Thr) NC_000016.10:23630357:C:G Identity +NM_001256850.1:c.20407A>G NP_001243779.1:p.Asn6803Asp NC_000002.12:178723900:T:C p.(Asn6803Asp) NC_000002.12:178723900:T:C p.(Asn6803Asp) NC_000002.12:178723900:T:C Identity +NM_001256850.1:c.14134C>T NP_001243779.1:p.Arg4712Ter NC_000002.12:178734838:G:A p.(Arg4712Ter) NC_000002.12:178734838:G:A p.(Arg4712Ter) NC_000002.12:178734838:G:A Identity +NM_000540.3:c.10465T>G NP_000531.2:p.Ser3489Ala NC_000019.10:38525340:T:G p.(Ser3489Ala) NC_000019.10:38525340:T:G p.(Ser3489Ala) NC_000019.10:38525340:T:G Identity +NM_000090.4:c.2515C>T NP_000081.2:p.Pro839Ser NC_000002.12:189003023:C:T p.(Pro839Ser) NC_000002.12:189003023:C:T p.(Pro839Ser) NC_000002.12:189003023:C:T Identity +NM_001410991.1:c.5176C>T NP_001397920.1:p.Arg1726Ter NC_000009.12:115035268:G:A p.(Arg1726Ter) NC_000009.12:115035268:G:A p.(Arg1726Ter) NC_000009.12:115035268:G:A Identity +NM_001184824.4:c.1018C>T NP_001171753.1:p.Arg340Ter NC_000016.10:68346256:C:T p.(Arg340Ter) NC_000016.10:68346256:C:T p.(Arg340Ter) NC_000016.10:68346256:C:T Identity +NM_001291902.2:c.1264G>A NP_001278831.1:p.Ala422Thr NC_000011.10:68416506:G:A p.(Ala422Thr) NC_000011.10:68416506:G:A p.(Ala422Thr) NC_000011.10:68416506:G:A Identity +NM_004134.7:c.662A>G NP_004125.3:p.Asn221Ser NC_000005.10:138567508:T:C p.(Asn221Ser) NC_000005.10:138567508:T:C p.(Asn221Ser) NC_000005.10:138567508:T:C Identity +NM_001286577.2:c.2_9del NP_001273506.1:p.Met1fs NC_000011.10:74170783:TTGTTTCAT:T p.(Met1ThrfsTer19) NC_000011.10:74170783:TTGTTTCAT:T p.Met1? NC_000011.10:74170783:TTGTTTCA: Analogous +NM_000451.4:c.675_676insA NP_000442.1:p.Pro226fs NC_000024.10:644432::A p.(Pro226ThrfsTer165) NC_000023.11:644431:C:A p.(Pro226ThrfsTer165) ERR:CDS is undefined for NM_000451.4; this accession appears to be for a non-coding transcript Analogous +NM_000540.3:c.10860G>A NP_000531.2:p.Trp3620Ter NC_000019.10:38528340:G:A p.(Trp3620Ter) NC_000019.10:38528340:G:A p.(Trp3620Ter) NC_000019.10:38528340:G:A Identity +NM_000540.3:c.14269C>T NP_000531.2:p.Arg4757Cys NC_000019.10:38578013:C:T p.(Arg4757Cys) NC_000019.10:38578013:C:T p.(Arg4757Cys) NC_000019.10:38578013:C:T Identity +NM_000256.3:c.3488C>T NP_000247.2:p.Pro1163Leu NC_000011.10:47332815:G:A p.(Pro1163Leu) NC_000011.10:47332815:G:A p.(Pro1163Leu) NC_000011.10:47332815:G:A Identity +NM_001943.5:c.161C>T NP_001934.2:p.Ala54Val NC_000018.10:31519881:C:T p.(Ala54Val) NC_000018.10:31519881:C:T p.(Ala54Val) NC_000018.10:31519881:C:T Identity +NM_001008844.3:c.6717_6718insAG NP_001008844.1:p.Gly2241fs NC_000006.12:7585776::AG p.(Gly2241ProfsTer44) NC_000006.12:7585775:C:AG p.(Gly2241ProfsTer44) NC_000006.12:7585776:CT:AG Analogous +NM_000363.5:c.98C>G NP_000354.4:p.Pro33Arg NC_000019.10:55157059:G:C p.(Pro33Arg) NC_000019.10:55157059:G:C p.(Pro33Arg) NC_000019.10:55157059:G:C Identity +NM_001407240.1:c.152G>A NP_001394169.1:p.Gly51Asp NC_000001.11:55039988:G:A p.(Gly51Asp) NC_000001.11:55039988:G:A p.(Gly51Asp) NC_000001.11:55039988:G:A Identity +NM_000540.3:c.3688C>A NP_000531.2:p.Gln1230Lys NC_000019.10:38469435:C:A p.(Gln1230Lys) NC_000019.10:38469435:C:A p.(Gln1230Lys) NC_000019.10:38469435:C:A Identity +NM_001035.3:c.10264C>T NP_001026.2:p.Gln3422Ter NC_000001.11:237711777:C:T p.(Gln3422Ter) NC_000001.11:237711777:C:T p.(Gln3422Ter) NC_000001.11:237711777:C:T Identity +NM_000053.4:c.265A>T NP_000044.2:p.Met89Leu NC_000013.11:51974954:T:A p.(Met89Leu) NC_000013.11:51974954:T:A p.(Met89Leu) NC_000013.11:51974954:T:A Identity +NM_000540.3:c.6887A>G NP_000531.2:p.Glu2296Gly NC_000019.10:38496949:A:G p.(Glu2296Gly) NC_000019.10:38496949:A:G p.(Glu2296Gly) NC_000019.10:38496949:A:G Identity +NM_001407058.1:c.343A>T NP_001393987.1:p.Ser115Cys NC_000022.11:29654674:A:T p.(Ser115Cys) NC_000022.11:29654674:A:T p.(Ser115Cys) NC_000022.11:29654674:A:T Identity +NM_000323.2:c.1510G>T NP_000314.1:p.Val504Leu NC_000010.11:43111452:G:T ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001406506.1:c.1956A>T NP_001393435.1:p.Glu652Asp NC_000018.10:31069016:T:A p.(Glu652Asp) NC_000018.10:31069016:T:A p.(Glu652Asp) NC_000018.10:31069016:T:A Identity +NM_001008844.3:c.5184G>C NP_001008844.1:p.Glu1728Asp NC_000006.12:7584242:G:C p.(Glu1728Asp) NC_000006.12:7584242:G:C p.(Glu1728Asp) NC_000006.12:7584242:G:C Identity +NM_001035.3:c.6349A>C NP_001026.2:p.Ile2117Leu NC_000001.11:237627988:A:C p.(Ile2117Leu) NC_000001.11:237627988:A:C p.(Ile2117Leu) NC_000001.11:237627988:A:C Identity +NM_000527.5:c.77G>A NP_000518.1:p.Arg26Lys NC_000019.10:11100231:G:A p.(Arg26Lys) NC_000019.10:11100231:G:A p.(Arg26Lys) NC_000019.10:11100231:G:A Identity +NM_000251.3:c.2048G>C NP_000242.1:p.Gly683Ala NC_000002.12:47476408:G:C p.(Gly683Ala) NC_000002.12:47476408:G:C p.(Gly683Ala) NC_000002.12:47476408:G:C Identity +NM_001040113.2:c.4272A>C NP_001035202.1:p.Lys1424Asn NC_000016.10:15724274:T:G p.(Lys1424Asn) NC_000016.10:15724274:T:G p.(Lys1424Asn) NC_000016.10:15724274:T:G Identity +NM_000218.3:c.909_910insGTGGTGGGGGGTGGTAA NP_000209.2:p.Trp304fs NC_000011.10:2572974::GTGGTGGGGGGTGGTAA p.(Trp304ValfsTer56) NC_000011.10:2572973:G:GTGGTGGGGGGTGGTAA p.(Trp304ValfsTer56) NC_000011.10:2572974:GT:GTGGTGGGGGGTGGTAA Analogous +NM_000038.6:c.6086C>A NP_000029.2:p.Ser2029Tyr NC_000005.10:112841679:C:A p.(Ser2029Tyr) NC_000005.10:112841679:C:A p.(Ser2029Tyr) NC_000005.10:112841679:C:A Identity +NM_000138.5:c.2795C>T NP_000129.3:p.Ser932Leu NC_000015.10:48492519:G:A p.(Ser932Leu) NC_000015.10:48492519:G:A p.(Ser932Leu) NC_000015.10:48492519:G:A Identity +NM_000540.3:c.3457G>A NP_000531.2:p.Asp1153Asn NC_000019.10:38469040:G:A p.(Asp1153Asn) NC_000019.10:38469040:G:A p.(Asp1153Asn) NC_000019.10:38469040:G:A Identity +NM_000540.3:c.9245A>G NP_000531.2:p.Lys3082Arg NC_000019.10:38512255:A:G p.(Lys3082Arg) NC_000019.10:38512255:A:G p.(Lys3082Arg) NC_000019.10:38512255:A:G Identity +NM_001040113.2:c.1226A>G NP_001035202.1:p.Lys409Arg NC_000016.10:15760582:T:C p.(Lys409Arg) NC_000016.10:15760582:T:C p.(Lys409Arg) NC_000016.10:15760582:T:C Identity +NM_000053.4:c.3278A>C NP_000044.2:p.Asp1093Ala NC_000013.11:51942519:T:G p.(Asp1093Ala) NC_000013.11:51942519:T:G p.(Asp1093Ala) NC_000013.11:51942519:T:G Identity +NM_000138.5:c.293A>G NP_000129.3:p.Asn98Ser NC_000015.10:48610780:T:C p.(Asn98Ser) NC_000015.10:48610780:T:C p.(Asn98Ser) NC_000015.10:48610780:T:C Identity +NM_000090.4:c.3125C>T NP_000081.2:p.Ala1042Val NC_000002.12:189006375:C:T p.(Ala1042Val) NC_000002.12:189006375:C:T p.(Ala1042Val) NC_000002.12:189006375:C:T Identity +NM_001406514.1:c.1121T>G NP_001393443.1:p.Val374Gly NC_000013.11:51974098:A:C p.(Val374Gly) NC_000013.11:51974098:A:C p.(Val374Gly) NC_000013.11:51974098:A:C Identity +NM_000138.5:c.3569C>A NP_000129.3:p.Pro1190His NC_000015.10:48487094:G:T p.(Pro1190His) NC_000015.10:48487094:G:T p.(Pro1190His) NC_000015.10:48487094:G:T Identity +NM_000540.3:c.14668G>A NP_000531.2:p.Val4890Met NC_000019.10:38584963:G:A p.(Val4890Met) NC_000019.10:38584963:G:A p.(Val4890Met) NC_000019.10:38584963:G:A Identity +NM_000138.5:c.3853G>C NP_000129.3:p.Asp1285His NC_000015.10:48481765:C:G p.(Asp1285His) NC_000015.10:48481765:C:G p.(Asp1285His) NC_000015.10:48481765:C:G Identity +NM_000335.5:c.4636G>T NP_000326.2:p.Val1546Leu NC_000003.12:38554452:C:A p.(Val1546Leu) NC_000003.12:38554452:C:A p.(Val1546Leu) NC_000003.12:38554452:C:A Identity +NM_001040113.2:c.3769G>C NP_001035202.1:p.Val1257Leu NC_000016.10:15726957:C:G p.(Val1257Leu) NC_000016.10:15726957:C:G p.(Val1257Leu) NC_000016.10:15726957:C:G Identity +NM_000540.3:c.11791G>A NP_000531.2:p.Asp3931Asn NC_000019.10:38543543:G:A p.(Asp3931Asn) NC_000019.10:38543543:G:A p.(Asp3931Asn) NC_000019.10:38543543:G:A Identity +NM_001035.3:c.3685A>G NP_001026.2:p.Ile1229Val NC_000001.11:237589878:A:G p.(Ile1229Val) NC_000001.11:237589878:A:G p.(Ile1229Val) NC_000001.11:237589878:A:G Identity +NM_000540.3:c.5427C>G NP_000531.2:p.Asp1809Glu NC_000019.10:38486081:C:G p.(Asp1809Glu) NC_000019.10:38486081:C:G p.(Asp1809Glu) NC_000019.10:38486081:C:G Identity +NM_000069.3:c.1118G>A NP_000060.2:p.Gly373Asp NC_000001.11:201085467:C:T p.(Gly373Asp) NC_000001.11:201085467:C:T p.(Gly373Asp) NC_000001.11:201085467:C:T Identity +NM_000368.5:c.3242T>A NP_000359.1:p.Leu1081His NC_000009.12:132896487:A:T p.(Leu1081His) NC_000009.12:132896487:A:T p.(Leu1081His) NC_000009.12:132896487:A:T Identity +NM_000540.3:c.1435del NP_000531.2:p.Glu479fs NC_000019.10:38453007:GG:G p.(Glu479ArgfsTer9) NC_000019.10:38453007:GG:G p.(Glu479ArgfsTer9) NC_000019.10:38453008:G: Analogous +NM_000540.3:c.7693T>G NP_000531.2:p.Cys2565Gly NC_000019.10:38502584:T:G p.(Cys2565Gly) NC_000019.10:38502584:T:G p.(Cys2565Gly) NC_000019.10:38502584:T:G Identity +NM_000138.5:c.7841C>G NP_000129.3:p.Ala2614Gly NC_000015.10:48415745:G:C p.(Ala2614Gly) NC_000015.10:48415745:G:C p.(Ala2614Gly) NC_000015.10:48415745:G:C Identity +NM_001040633.2:c.879G>T NP_001035723.1:p.Gln293His NC_000007.14:151572703:C:A p.(Gln293His) NC_000007.14:151572703:C:A p.(Gln293His) NC_000007.14:151572703:C:A Identity +NM_001035.3:c.14886T>G NP_001026.2:p.Tyr4962Ter NC_000001.11:237832628:T:G p.(Tyr4962Ter) NC_000001.11:237832628:T:G p.(Tyr4962Ter) NC_000001.11:237832628:T:G Identity +NM_001035.3:c.11236G>A NP_001026.2:p.Ala3746Thr NC_000001.11:237756377:G:A p.(Ala3746Thr) NC_000001.11:237756377:G:A p.(Ala3746Thr) NC_000001.11:237756377:G:A Identity +NM_001040113.2:c.107T>C NP_001035202.1:p.Val36Ala NC_000016.10:15838145:A:G p.(Val36Ala) NC_000016.10:15838145:A:G p.(Val36Ala) NC_000016.10:15838145:A:G Identity +NM_000069.3:c.5404G>A NP_000060.2:p.Ala1802Thr NC_000001.11:201040048:C:T p.(Ala1802Thr) NC_000001.11:201040048:C:T p.(Ala1802Thr) NC_000001.11:201040048:C:T Identity +NM_000540.3:c.7321C>G NP_000531.2:p.His2441Asp NC_000019.10:38500013:C:G p.(His2441Asp) NC_000019.10:38500013:C:G p.(His2441Asp) NC_000019.10:38500013:C:G Identity +NM_001035.3:c.4600G>A NP_001026.2:p.Glu1534Lys NC_000001.11:237602027:G:A p.(Glu1534Lys) NC_000001.11:237602027:G:A p.(Glu1534Lys) NC_000001.11:237602027:G:A Identity +NM_001008844.3:c.5518A>G NP_001008844.1:p.Thr1840Ala NC_000006.12:7584576:A:G p.(Thr1840Ala) NC_000006.12:7584576:A:G p.(Thr1840Ala) NC_000006.12:7584576:A:G Identity +NM_001035.3:c.10700G>C NP_001026.2:p.Arg3567Pro NC_000001.11:237726282:G:C p.(Arg3567Pro) NC_000001.11:237726282:G:C p.(Arg3567Pro) NC_000001.11:237726282:G:C Identity +NM_000540.3:c.7691A>C NP_000531.2:p.Lys2564Thr NC_000019.10:38502582:A:C p.(Lys2564Thr) NC_000019.10:38502582:A:C p.(Lys2564Thr) NC_000019.10:38502582:A:C Identity +NM_001406535.1:c.884A>G NP_001393464.1:p.Lys295Arg NC_000013.11:51974335:T:C p.(Lys295Arg) NC_000013.11:51974335:T:C p.(Lys295Arg) NC_000013.11:51974335:T:C Identity +NM_000138.5:c.2581C>G NP_000129.3:p.Arg861Gly NC_000015.10:48495218:G:C p.(Arg861Gly) NC_000015.10:48495218:G:C p.(Arg861Gly) NC_000015.10:48495218:G:C Identity +NM_000257.4:c.3281T>C NP_000248.2:p.Ile1094Thr NC_000014.9:23421012:A:G p.(Ile1094Thr) NC_000014.9:23421012:A:G p.(Ile1094Thr) NC_000014.9:23421012:A:G Identity +NM_001035.3:c.13304C>T NP_001026.2:p.Thr4435Ile NC_000001.11:237786011:C:T p.(Thr4435Ile) NC_000001.11:237786011:C:T p.(Thr4435Ile) NC_000001.11:237786011:C:T Identity +NM_001040113.2:c.2405C>T NP_001035202.1:p.Ala802Val NC_000016.10:15747596:G:A p.(Ala802Val) NC_000016.10:15747596:G:A p.(Ala802Val) NC_000016.10:15747596:G:A Identity +NM_001024847.3:c.619G>A NP_001020018.1:p.Val207Ile NC_000003.12:30671726:G:A p.(Val207Ile) NC_000003.12:30671726:G:A p.(Val207Ile) NC_000003.12:30671726:G:A Identity +NM_000138.5:c.947C>T NP_000129.3:p.Pro316Leu NC_000015.10:48526170:G:A p.(Pro316Leu) NC_000015.10:48526170:G:A p.(Pro316Leu) NC_000015.10:48526170:G:A Identity +NM_000321.3:c.1039T>C NP_000312.2:p.Ser347Pro NC_000013.11:48367592:T:C p.(Ser347Pro) NC_000013.11:48367592:T:C p.(Ser347Pro) NC_000013.11:48367592:T:C Identity +NM_000090.4:c.2498A>T NP_000081.2:p.Lys833Ile NC_000002.12:189003006:A:T p.(Lys833Ile) NC_000002.12:189003006:A:T p.(Lys833Ile) NC_000002.12:189003006:A:T Identity +NM_000268.4:c.686G>A NP_000259.1:p.Gly229Asp NC_000022.11:29661214:G:A p.(Gly229Asp) NC_000022.11:29661214:G:A p.(Gly229Asp) NC_000022.11:29661214:G:A Identity +NM_000053.4:c.775C>T NP_000044.2:p.Leu259Phe NC_000013.11:51974444:G:A p.(Leu259Phe) NC_000013.11:51974444:G:A p.(Leu259Phe) NC_000013.11:51974444:G:A Identity +NM_000335.5:c.3730A>G NP_000326.2:p.Met1244Val NC_000003.12:38566515:T:C p.(Met1244Val) NC_000003.12:38566515:T:C p.(Met1244Val) NC_000003.12:38566515:T:C Identity +NM_000256.3:c.2078C>G NP_000247.2:p.Ala693Gly NC_000011.10:47339393:G:C p.(Ala693Gly) NC_000011.10:47339393:G:C p.(Ala693Gly) NC_000011.10:47339393:G:C Identity +NM_000540.3:c.6820G>A NP_000531.2:p.Asp2274Asn NC_000019.10:38496882:G:A p.(Asp2274Asn) NC_000019.10:38496882:G:A p.(Asp2274Asn) NC_000019.10:38496882:G:A Identity +NM_000364.4:c.631G>C NP_000355.2:p.Glu211Gln NC_000001.11:201361991:C:G p.(Glu211Gln) NC_000001.11:201361991:C:G p.(Glu211Gln) NC_000001.11:201361991:C:G Identity +NM_001130916.3:c.788del NP_001124388.1:p.Leu263fs NC_000009.12:99144775:TT:T p.(Leu263TrpfsTer2) NC_000009.12:99144775:TT:T p.(Leu263TrpfsTer2) NC_000009.12:99144776:T: Analogous +NM_001319034.2:c.3716T>C NP_001305963.1:p.Leu1239Pro NC_000006.12:7579905:T:C p.(Leu1239Pro) NC_000006.12:7579905:T:C p.(Leu1239Pro) NC_000006.12:7579905:T:C Identity +NM_001406506.1:c.283_285del NP_001393435.1:p.Asp95del NC_000018.10:31087729:ATCAT:AT p.(Asp95del) NC_000018.10:31087729:ATCAT:AT p.(Asp95del) NC_000018.10:31087729:ATC: Identity +NM_000540.3:c.5459G>A NP_000531.2:p.Arg1820His NC_000019.10:38486113:G:A p.(Arg1820His) NC_000019.10:38486113:G:A p.(Arg1820His) NC_000019.10:38486113:G:A Identity +NM_000256.3:c.3155T>G NP_000247.2:p.Met1052Arg NC_000011.10:47333591:A:C p.(Met1052Arg) NC_000011.10:47333591:A:C p.(Met1052Arg) NC_000011.10:47333591:A:C Identity +NM_001008844.3:c.6367G>A NP_001008844.1:p.Ala2123Thr NC_000006.12:7585425:G:A p.(Ala2123Thr) NC_000006.12:7585425:G:A p.(Ala2123Thr) NC_000006.12:7585425:G:A Identity +NM_000256.3:c.875T>C NP_000247.2:p.Ile292Thr NC_000011.10:47347455:A:G p.(Ile292Thr) NC_000011.10:47347455:A:G p.(Ile292Thr) NC_000011.10:47347455:A:G Identity +NM_000069.3:c.3443A>G NP_000060.2:p.His1148Arg NC_000001.11:201059270:T:C p.(His1148Arg) NC_000001.11:201059270:T:C p.(His1148Arg) NC_000001.11:201059270:T:C Identity +NM_000540.3:c.4648G>A NP_000531.2:p.Ala1550Thr NC_000019.10:38483053:G:A p.(Ala1550Thr) NC_000019.10:38483053:G:A p.(Ala1550Thr) NC_000019.10:38483053:G:A Identity +NM_000069.3:c.4879C>T NP_000060.2:p.Pro1627Ser NC_000001.11:201043449:G:A p.(Pro1627Ser) NC_000001.11:201043449:G:A p.(Pro1627Ser) NC_000001.11:201043449:G:A Identity +NM_001035.3:c.1268T>C NP_001026.2:p.Val423Ala NC_000001.11:237445497:T:C p.(Val423Ala) NC_000001.11:237445497:T:C p.(Val423Ala) NC_000001.11:237445497:T:C Identity +NM_001319034.2:c.3898C>G NP_001305963.1:p.Gln1300Glu NC_000006.12:7580087:C:G p.(Gln1300Glu) NC_000006.12:7580087:C:G p.(Gln1300Glu) NC_000006.12:7580087:C:G Identity +NM_000540.3:c.6628G>A NP_000531.2:p.Val2210Ile NC_000019.10:38496293:G:A p.(Val2210Ile) NC_000019.10:38496293:G:A p.(Val2210Ile) NC_000019.10:38496293:G:A Identity +NM_000069.3:c.5042_5048delTTTCCAG NP_000060.2:p.Phe1681fs NC_000001.11:201043280:CTGGAAA: p.(Phe1681LeufsTer40) NC_000001.11:201043280:CTGGAAA: p.(Phe1681LeufsTer40) NC_000001.11:201043280:CTGGAAA: Analogous +NM_000335.5:c.3988A>T NP_000326.2:p.Ile1330Phe NC_000003.12:38560400:T:A p.(Ile1330Phe) NC_000003.12:38560400:T:A p.(Ile1330Phe) NC_000003.12:38560400:T:A Identity +NM_000179.3:c.368A>G NP_000170.1:p.Lys123Arg NC_000002.12:47791033:A:G p.(Lys123Arg) NC_000002.12:47791033:A:G p.(Lys123Arg) NC_000002.12:47791033:A:G Identity +NM_000368.5:c.2597T>G NP_000359.1:p.Leu866Arg NC_000009.12:132900742:A:C p.(Leu866Arg) NC_000009.12:132900742:A:C p.(Leu866Arg) NC_000009.12:132900742:A:C Identity +NM_000069.3:c.1588A>C NP_000060.2:p.Ile530Leu NC_000001.11:201077909:T:G p.(Ile530Leu) NC_000001.11:201077909:T:G p.(Ile530Leu) NC_000001.11:201077909:T:G Identity +NM_000546.6:c.959A>C NP_000537.3:p.Lys320Thr NC_000017.11:7673568:T:G p.(Lys320Thr) NC_000017.11:7673568:T:G p.(Lys320Thr) NC_000017.11:7673568:T:G Identity +NM_000540.3:c.12066G>A NP_000531.2:p.Met4022Ile NC_000019.10:38546497:G:A p.(Met4022Ile) NC_000019.10:38546497:G:A p.(Met4022Ile) NC_000019.10:38546497:G:A Identity +NM_000069.3:c.3971C>A NP_000060.2:p.Ala1324Asp NC_000001.11:201051125:G:T p.(Ala1324Asp) NC_000001.11:201051125:G:T p.(Ala1324Asp) NC_000001.11:201051125:G:T Identity +NM_000540.3:c.4164C>G NP_000531.2:p.Phe1388Leu NC_000019.10:38475320:C:G p.(Phe1388Leu) NC_000019.10:38475320:C:G p.(Phe1388Leu) NC_000019.10:38475320:C:G Identity +NM_000531.6:c.285G>T NP_000522.3:p.Leu95Phe NC_000023.11:38369863:G:T p.(Leu95Phe) NC_000023.11:38369863:G:T p.(Leu95Phe) NC_000023.11:38369863:G:T Identity +NM_000548.5:c.3620G>A NP_000539.2:p.Ser1207Asn NC_000016.10:2081603:G:A p.(Ser1207Asn) NC_000016.10:2081603:G:A p.(Ser1207Asn) NC_000016.10:2081603:G:A Identity +NM_001035.3:c.14048G>A NP_001026.2:p.Arg4683Lys NC_000001.11:237798127:G:A p.(Arg4683Lys) NC_000001.11:237798127:G:A p.(Arg4683Lys) NC_000001.11:237798127:G:A Identity +NM_001282625.2:c.235G>A NP_001269554.1:p.Ala79Thr NC_000001.11:156115152:G:A p.(Ala79Thr) NC_000001.11:156115152:G:A p.(Ala79Thr) NC_000001.11:156115152:G:A Identity +NM_001035.3:c.2627C>T NP_001026.2:p.Pro876Leu NC_000001.11:237506722:C:T p.(Pro876Leu) NC_000001.11:237506722:C:T p.(Pro876Leu) NC_000001.11:237506722:C:T Identity +NM_000378.6:c.737A>G NP_000369.4:p.Asn246Ser NC_000011.10:32428543:T:C p.(Asn246Ser) NC_000011.10:32428543:T:C p.(Asn246Ser) NC_000011.10:32428543:T:C Identity +NM_000540.3:c.2237G>T NP_000531.2:p.Cys746Phe NC_000019.10:38459214:G:T p.(Cys746Phe) NC_000019.10:38459214:G:T p.(Cys746Phe) NC_000019.10:38459214:G:T Identity +NM_000251.3:c.1427C>T NP_000242.1:p.Pro476Leu NC_000002.12:47463070:C:T p.(Pro476Leu) NC_000002.12:47463070:C:T p.(Pro476Leu) NC_000002.12:47463070:C:T Identity +NM_001040113.2:c.5057A>G NP_001035202.1:p.Glu1686Gly NC_000016.10:15719630:T:C p.(Glu1686Gly) NC_000016.10:15719630:T:C p.(Glu1686Gly) NC_000016.10:15719630:T:C Identity +NM_000364.4:c.29A>G NP_000355.2:p.Glu10Gly NC_000001.11:201373225:T:C p.(Glu10Gly) NC_000001.11:201373225:T:C p.(Glu10Gly) NC_000001.11:201373225:T:C Identity +NM_000069.3:c.3196G>C NP_000060.2:p.Val1066Leu NC_000001.11:201061325:C:G p.(Val1066Leu) NC_000001.11:201061325:C:G p.(Val1066Leu) NC_000001.11:201061325:C:G Identity +NM_000257.4:c.4660G>C NP_000248.2:p.Glu1554Gln NC_000014.9:23416296:C:G p.(Glu1554Gln) NC_000014.9:23416296:C:G p.(Glu1554Gln) NC_000014.9:23416296:C:G Identity +NM_000138.5:c.1798C>T NP_000129.3:p.Pro600Ser NC_000015.10:48508620:G:A p.(Pro600Ser) NC_000015.10:48508620:G:A p.(Pro600Ser) NC_000015.10:48508620:G:A Identity +NM_000138.5:c.4823A>T NP_000129.3:p.Asp1608Val NC_000015.10:48465686:T:A p.(Asp1608Val) NC_000015.10:48465686:T:A p.(Asp1608Val) NC_000015.10:48465686:T:A Identity +NM_000540.3:c.14420A>T NP_000531.2:p.Asn4807Ile NC_000019.10:38580036:A:T p.(Asn4807Ile) NC_000019.10:38580036:A:T p.(Asn4807Ile) NC_000019.10:38580036:A:T Identity +NM_000038.6:c.1982G>C NP_000029.2:p.Cys661Ser NC_000005.10:112837575:G:C p.(Cys661Ser) NC_000005.10:112837575:G:C p.(Cys661Ser) NC_000005.10:112837575:G:C Identity +NM_000069.3:c.1534C>G NP_000060.2:p.Leu512Val NC_000001.11:201077963:G:C p.(Leu512Val) NC_000001.11:201077963:G:C p.(Leu512Val) NC_000001.11:201077963:G:C Identity +NM_000540.3:c.12605C>G NP_000531.2:p.Ala4202Gly NC_000019.10:38561434:C:G p.(Ala4202Gly) NC_000019.10:38561434:C:G p.(Ala4202Gly) NC_000019.10:38561434:C:G Identity +LRG_402t1:c.8158T>C LRG_402p1:p.Phe2720Leu NC_000001.11:237657971:T:C ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:Data provider error: ValueError: Transcript LRG_402t1 not found ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_402t1, alt_ac=LRG_402t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_402t1 not found +NM_000053.4:c.23T>A NP_000044.2:p.Ile8Asn NC_000013.11:52011314:A:T p.(Ile8Asn) NC_000013.11:52011314:A:T p.(Ile8Asn) NC_000013.11:52011314:A:T Identity +NM_001406506.1:c.970G>A NP_001393435.1:p.Glu324Lys NC_000018.10:31080216:C:T p.(Glu324Lys) NC_000018.10:31080216:C:T p.(Glu324Lys) NC_000018.10:31080216:C:T Identity +NM_000038.6:c.5881G>A NP_000029.2:p.Val1961Ile NC_000005.10:112841474:G:A p.(Val1961Ile) NC_000005.10:112841474:G:A p.(Val1961Ile) NC_000005.10:112841474:G:A Identity +NM_000540.3:c.12638A>G NP_000531.2:p.Lys4213Arg NC_000019.10:38564971:A:G p.(Lys4213Arg) NC_000019.10:38564971:A:G p.(Lys4213Arg) NC_000019.10:38564971:A:G Identity +NM_001008844.3:c.512G>T NP_001008844.1:p.Gly171Val NC_000006.12:7559314:G:T p.(Gly171Val) NC_000006.12:7559314:G:T p.(Gly171Val) NC_000006.12:7559314:G:T Identity +NM_000059.4:c.6427T>A NP_000050.3:p.Ser2143Thr NC_000013.11:32340781:T:A p.(Ser2143Thr) NC_000013.11:32340781:T:A p.(Ser2143Thr) NC_000013.11:32340781:T:A Identity +NM_000069.3:c.377A>G NP_000060.2:p.Asp126Gly NC_000001.11:201093902:T:C p.(Asp126Gly) NC_000001.11:201093902:T:C p.(Asp126Gly) NC_000001.11:201093902:T:C Identity +NM_000090.4:c.322A>G NP_000081.2:p.Lys108Glu NC_000002.12:188985235:A:G p.(Lys108Glu) NC_000002.12:188985235:A:G p.(Lys108Glu) NC_000002.12:188985235:A:G Identity +NM_001005242.3:c.447G>C NP_001005242.2:p.Glu149Asp NC_000012.12:32878432:C:G p.(Glu149Asp) NC_000012.12:32878432:C:G p.(Glu149Asp) NC_000012.12:32878432:C:G Identity +NM_000540.3:c.6208G>T NP_000531.2:p.Val2070Leu NC_000019.10:38492569:G:T p.(Val2070Leu) NC_000019.10:38492569:G:T p.(Val2070Leu) NC_000019.10:38492569:G:T Identity +NM_001943.5:c.188A>G NP_001934.2:p.Asp63Gly NC_000018.10:31519908:A:G p.(Asp63Gly) NC_000018.10:31519908:A:G p.(Asp63Gly) NC_000018.10:31519908:A:G Identity +NM_000138.5:c.6515T>C NP_000129.3:p.Val2172Ala NC_000015.10:48434694:A:G p.(Val2172Ala) NC_000015.10:48434694:A:G p.(Val2172Ala) NC_000015.10:48434694:A:G Identity +NM_001035.3:c.3745A>G NP_001026.2:p.Met1249Val NC_000001.11:237589938:A:G p.(Met1249Val) NC_000001.11:237589938:A:G p.(Met1249Val) NC_000001.11:237589938:A:G Identity +NM_000257.4:c.5394C>A NP_000248.2:p.Asp1798Glu NC_000014.9:23415159:G:T p.(Asp1798Glu) NC_000014.9:23415159:G:T p.(Asp1798Glu) NC_000014.9:23415159:G:T Identity +NM_001406511.1:c.1415C>A NP_001393440.1:p.Pro472Gln NC_000013.11:51970619:G:T p.(Pro472Gln) NC_000013.11:51970619:G:T p.(Pro472Gln) NC_000013.11:51970619:G:T Identity +NM_000090.4:c.197T>G NP_000081.2:p.Ile66Arg NC_000002.12:188984876:T:G p.(Ile66Arg) NC_000002.12:188984876:T:G p.(Ile66Arg) NC_000002.12:188984876:T:G Identity +NM_000540.3:c.6482A>T NP_000531.2:p.Gln2161Leu NC_000019.10:38494558:A:T p.(Gln2161Leu) NC_000019.10:38494558:A:T p.(Gln2161Leu) NC_000019.10:38494558:A:T Identity +NM_000053.4:c.3122G>T NP_000044.2:p.Arg1041Leu NC_000013.11:51944229:C:A p.(Arg1041Leu) NC_000013.11:51944229:C:A p.(Arg1041Leu) NC_000013.11:51944229:C:A Identity +NM_000335.5:c.4792G>C NP_000326.2:p.Val1598Leu NC_000003.12:38554296:C:G p.(Val1598Leu) NC_000003.12:38554296:C:G p.(Val1598Leu) NC_000003.12:38554296:C:G Identity +NM_001407240.1:c.2084_2087dup NP_001394169.1:p.Val697fs NC_000001.11:55063463:GTGTGT:GTGTGTGTGT p.(Val697CysfsTer56) NC_000001.11:55063463:GTGTGT:GTGTGTGTGT p.(Val697CysfsTer56) ERR:SPDI Analogous +NM_000138.5:c.4822G>A NP_000129.3:p.Asp1608Asn NC_000015.10:48465687:C:T p.(Asp1608Asn) NC_000015.10:48465687:C:T p.(Asp1608Asn) NC_000015.10:48465687:C:T Identity +NM_000527.5:c.712C>T NP_000518.1:p.Pro238Ser NC_000019.10:11106581:C:T p.(Pro238Ser) NC_000019.10:11106581:C:T p.(Pro238Ser) NC_000019.10:11106581:C:T Identity +NM_000138.5:c.116C>G NP_000129.3:p.Ala39Gly NC_000015.10:48644653:G:C p.(Ala39Gly) NC_000015.10:48644653:G:C p.(Ala39Gly) NC_000015.10:48644653:G:C Identity +NM_000540.3:c.5941A>G NP_000531.2:p.Ile1981Val NC_000019.10:38490201:A:G p.(Ile1981Val) NC_000019.10:38490201:A:G p.(Ile1981Val) NC_000019.10:38490201:A:G Identity +NM_001943.5:c.2981C>T NP_001934.2:p.Pro994Leu NC_000018.10:31546366:C:T p.(Pro994Leu) NC_000018.10:31546366:C:T p.(Pro994Leu) NC_000018.10:31546366:C:T Identity +NM_000257.4:c.4490C>A NP_000248.2:p.Thr1497Asn NC_000014.9:23417181:G:T p.(Thr1497Asn) NC_000014.9:23417181:G:T p.(Thr1497Asn) NC_000014.9:23417181:G:T Identity +NM_001005242.3:c.13G>A NP_001005242.2:p.Gly5Ser NC_000012.12:32896718:C:T p.(Gly5Ser) NC_000012.12:32896718:C:T p.(Gly5Ser) NC_000012.12:32896718:C:T Identity +NM_001035.3:c.3164G>T NP_001026.2:p.Arg1055Leu NC_000001.11:237550640:G:T p.(Arg1055Leu) NC_000001.11:237550640:G:T p.(Arg1055Leu) NC_000001.11:237550640:G:T Identity +NM_001407240.1:c.1776C>G NP_001394169.1:p.His592Gln NC_000001.11:55059634:C:G p.(His592Gln) NC_000001.11:55059634:C:G p.(His592Gln) NC_000001.11:55059634:C:G Identity +NM_000038.6:c.5411T>C NP_000029.2:p.Val1804Ala NC_000005.10:112841004:T:C p.(Val1804Ala) NC_000005.10:112841004:T:C p.(Val1804Ala) NC_000005.10:112841004:T:C Identity +NM_001257374.3:c.1174G>A NP_001244303.1:p.Ala392Thr NC_000001.11:156137133:G:A p.(Ala392Thr) NC_000001.11:156137133:G:A p.(Ala392Thr) NC_000001.11:156137133:G:A Identity +NM_000256.3:c.371C>A NP_000247.2:p.Ala124Asp NC_000011.10:47350536:G:T p.(Ala124Asp) NC_000011.10:47350536:G:T p.(Ala124Asp) NC_000011.10:47350536:G:T Identity +NM_001008844.3:c.299A>T NP_001008844.1:p.Gln100Leu NC_000006.12:7558140:A:T p.(Gln100Leu) NC_000006.12:7558140:A:T p.(Gln100Leu) NC_000006.12:7558140:A:T Identity +NM_000069.3:c.2265C>A NP_000060.2:p.Ser755Arg NC_000001.11:201070366:G:T p.(Ser755Arg) NC_000001.11:201070366:G:T p.(Ser755Arg) NC_000001.11:201070366:G:T Identity +NM_000540.3:c.4091G>A NP_000531.2:p.Gly1364Glu NC_000019.10:38473701:G:A p.(Gly1364Glu) NC_000019.10:38473701:G:A p.(Gly1364Glu) NC_000019.10:38473701:G:A Identity +NM_001407021.1:c.110T>G NP_001393950.1:p.Ile37Ser NC_000007.14:151876510:A:C p.(Ile37Ser) NC_000007.14:151876510:A:C p.(Ile37Ser) NC_000007.14:151876510:A:C Identity +NM_000540.3:c.2879T>C NP_000531.2:p.Met960Thr NC_000019.10:38466098:T:C p.(Met960Thr) NC_000019.10:38466098:T:C p.(Met960Thr) NC_000019.10:38466098:T:C Identity +NM_001035.3:c.12955G>A NP_001026.2:p.Val4319Ile NC_000001.11:237784666:G:A p.(Val4319Ile) NC_000001.11:237784666:G:A p.(Val4319Ile) NC_000001.11:237784666:G:A Identity +NM_000540.3:c.9632A>G NP_000531.2:p.Asn3211Ser NC_000019.10:38516163:A:G p.(Asn3211Ser) NC_000019.10:38516163:A:G p.(Asn3211Ser) NC_000019.10:38516163:A:G Identity +NM_000053.4:c.2160del NP_000044.2:p.Lys720fs NC_000013.11:51958505:TTT:TT p.(Lys720AsnfsTer3) NC_000013.11:51958505:TTT:TT p.(Lys720AsnfsTer3) NC_000013.11:51958505:T: Analogous +NM_000548.5:c.3172A>G NP_000539.2:p.Lys1058Glu NC_000016.10:2079315:A:G p.(Lys1058Glu) NC_000016.10:2079315:A:G p.(Lys1058Glu) NC_000016.10:2079315:A:G Identity +NM_001040633.2:c.1495G>T NP_001035723.1:p.Gly499Cys NC_000007.14:151560574:C:A p.(Gly499Cys) NC_000007.14:151560574:C:A p.(Gly499Cys) NC_000007.14:151560574:C:A Identity +NM_001407361.1:c.262A>G NP_001394290.1:p.Thr88Ala NC_000001.11:17033083:T:C p.(Thr88Ala) NC_000001.11:17033083:T:C p.(Thr88Ala) NC_000001.11:17033083:T:C Identity +NM_001319034.2:c.3760G>T NP_001305963.1:p.Val1254Phe NC_000006.12:7579949:G:T p.(Val1254Phe) NC_000006.12:7579949:G:T p.(Val1254Phe) NC_000006.12:7579949:G:T Identity +NM_000366.6:c.685T>C NP_000357.3:p.Ser229Pro NC_000015.10:63062259:T:C p.(Ser229Pro) NC_000015.10:63062259:T:C p.(Ser229Pro) NC_000015.10:63062259:T:C Identity +NM_001035.3:c.9869T>C NP_001026.2:p.Ile3290Thr NC_000001.11:237707236:T:C p.(Ile3290Thr) NC_000001.11:237707236:T:C p.(Ile3290Thr) NC_000001.11:237707236:T:C Identity +NM_000540.3:c.5087C>G NP_000531.2:p.Ala1696Gly NC_000019.10:38485741:C:G p.(Ala1696Gly) NC_000019.10:38485741:C:G p.(Ala1696Gly) NC_000019.10:38485741:C:G Identity +NM_000069.3:c.4807G>A NP_000060.2:p.Gly1603Ser NC_000001.11:201043521:C:T p.(Gly1603Ser) NC_000001.11:201043521:C:T p.(Gly1603Ser) NC_000001.11:201043521:C:T Identity +NM_000540.3:c.12161T>G NP_000531.2:p.Val4054Gly NC_000019.10:38548298:T:G p.(Val4054Gly) NC_000019.10:38548298:T:G p.(Val4054Gly) NC_000019.10:38548298:T:G Identity +NM_001406688.1:c.2491A>C NP_001393617.1:p.Thr831Pro NC_000016.10:2079366:A:C p.(Thr831Pro) NC_000016.10:2079366:A:C p.(Thr831Pro) NC_000016.10:2079366:A:C Identity +NM_004415.4:c.4237A>G NP_004406.2:p.Lys1413Glu NC_000006.12:7580426:A:G p.(Lys1413Glu) NC_000006.12:7580426:A:G p.(Lys1413Glu) NC_000006.12:7580426:A:G Identity +NM_000138.5:c.5528C>T NP_000129.3:p.Ser1843Phe NC_000015.10:48452578:G:A p.(Ser1843Phe) NC_000015.10:48452578:G:A p.(Ser1843Phe) NC_000015.10:48452578:G:A Identity +NM_000238.4:c.1989C>G NP_000229.1:p.Ile663Met NC_000007.14:150951076:G:C p.(Ile663Met) NC_000007.14:150951076:G:C p.(Ile663Met) NC_000007.14:150951076:G:C Identity +NM_001407041.1:c.421A>G NP_001393970.1:p.Ile141Val NC_000018.10:51048856:A:G p.(Ile141Val) NC_000018.10:51048856:A:G p.(Ile141Val) NC_000018.10:51048856:A:G Identity +NM_001008844.3:c.2915T>A NP_001008844.1:p.Leu972Gln NC_000006.12:7577815:T:A p.(Leu972Gln) NC_000006.12:7577815:T:A p.(Leu972Gln) NC_000006.12:7577815:T:A Identity +NM_001276504.2:c.56G>T NP_001263433.1:p.Gly19Val NC_000011.10:112088869:G:T p.(Gly19Val) NC_000011.10:112088869:G:T p.(Gly19Val) NC_000011.10:112088869:G:T Identity +NM_000053.4:c.4181C>G NP_000044.2:p.Pro1394Arg NC_000013.11:51934972:G:C p.(Pro1394Arg) NC_000013.11:51934972:G:C p.(Pro1394Arg) NC_000013.11:51934972:G:C Identity +NM_001406542.1:c.2827A>G NP_001393471.1:p.Lys943Glu NC_000013.11:51942484:T:C p.(Lys943Glu) NC_000013.11:51942484:T:C p.(Lys943Glu) NC_000013.11:51942484:T:C Identity +NM_001008844.3:c.323A>T NP_001008844.1:p.Asp108Val NC_000006.12:7558164:A:T p.(Asp108Val) NC_000006.12:7558164:A:T p.(Asp108Val) NC_000006.12:7558164:A:T Identity +NM_001407011.1:c.2T>C NP_001393940.1:p.Met1Thr NC_000015.10:67066155:T:C p.(Met1Thr) NC_000015.10:67066155:T:C p.Met1? NC_000015.10:67066155:T:C Identity +NM_001141945.3:c.872T>A NP_001135417.1:p.Ile291Asn NC_000010.11:88938178:A:T p.(Ile291Asn) NC_000010.11:88938178:A:T p.(Ile291Asn) NC_000010.11:88938178:A:T Identity +NM_000702.4:c.2486T>C NP_000693.1:p.Met829Thr NC_000001.11:160136292:T:C p.(Met829Thr) NC_000001.11:160136292:T:C p.(Met829Thr) NC_000001.11:160136292:T:C Identity +NM_001035.3:c.10075T>C NP_001026.2:p.Phe3359Leu NC_000001.11:237709030:T:C p.(Phe3359Leu) NC_000001.11:237709030:T:C p.(Phe3359Leu) NC_000001.11:237709030:T:C Identity +NM_001040113.2:c.3122C>T NP_001035202.1:p.Ser1041Phe NC_000016.10:15738584:G:A p.(Ser1041Phe) NC_000016.10:15738584:G:A p.(Ser1041Phe) NC_000016.10:15738584:G:A Identity +NM_000323.2:c.2501A>C NP_000314.1:p.Asn834Thr NC_000010.11:43119638:A:C ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:Data provider error: ValueError: Transcript NM_000323.2 not found ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000323.2, alt_ac=NM_000323.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000323.2 not found +NM_001008844.3:c.5567C>T NP_001008844.1:p.Thr1856Ile NC_000006.12:7584625:C:T p.(Thr1856Ile) NC_000006.12:7584625:C:T p.(Thr1856Ile) NC_000006.12:7584625:C:T Identity +NM_000090.4:c.2282G>A NP_000081.2:p.Arg761Lys NC_000002.12:188999893:G:A p.(Arg761Lys) NC_000002.12:188999893:G:A p.(Arg761Lys) NC_000002.12:188999893:G:A Identity +NM_000378.6:c.795G>C NP_000369.4:p.Gln265His NC_000011.10:32428047:C:G p.(Gln265His) NC_000011.10:32428047:C:G p.(Gln265His) NC_000011.10:32428047:C:G Identity +NM_006133.3:c.2484del NP_006124.1:p.Glu829fs NC_000011.10:61743840:CCCC:CCC p.(Glu829ArgfsTer6) NC_000011.10:61743840:CCCC:CCC p.(Glu829ArgfsTer6) NC_000011.10:61743843:C: Analogous +NM_000540.3:c.1999dup NP_000531.2:p.Val667fs NC_000019.10:38458122:GG:GGG p.(Val667GlyfsTer43) NC_000019.10:38458122:GG:GGG p.(Val667GlyfsTer43) ERR:SPDI Analogous +NM_000540.3:c.9529A>C NP_000531.2:p.Thr3177Pro NC_000019.10:38515081:A:C p.(Thr3177Pro) NC_000019.10:38515081:A:C p.(Thr3177Pro) NC_000019.10:38515081:A:C Identity +NM_000090.4:c.2703G>C NP_000081.2:p.Lys901Asn NC_000002.12:189004022:G:C p.(Lys901Asn) NC_000002.12:189004022:G:C p.(Lys901Asn) NC_000002.12:189004022:G:C Identity +NM_000540.3:c.4686G>T NP_000531.2:p.Gln1562His NC_000019.10:38483091:G:T p.(Gln1562His) NC_000019.10:38483091:G:T p.(Gln1562His) NC_000019.10:38483091:G:T Identity +NM_000548.5:c.4067dup NP_000539.2:p.Ile1357fs NC_000016.10:2084285:GGGG:GGGGG p.(Ile1357HisfsTer57) NC_000016.10:2084285:GGGG:GGGGG p.(Ile1357HisfsTer57) ERR:SPDI Analogous +NM_001024847.3:c.331G>T NP_001020018.1:p.Ala111Ser NC_000003.12:30644907:G:T p.(Ala111Ser) NC_000003.12:30644907:G:T p.(Ala111Ser) NC_000003.12:30644907:G:T Identity +NM_000378.6:c.401C>A NP_000369.4:p.Pro134Gln NC_000011.10:32434959:G:T p.(Pro134Gln) NC_000011.10:32434959:G:T p.(Pro134Gln) NC_000011.10:32434959:G:T Identity +LRG_423t1:c.4163C>A LRG_423p1:p.Thr1388Asn NC_000006.12:7580352:C:A ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:Data provider error: ValueError: Transcript LRG_423t1 not found ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_423t1, alt_ac=LRG_423t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_423t1 not found +NM_000053.4:c.1441T>G NP_000044.2:p.Ser481Ala NC_000013.11:51970593:A:C p.(Ser481Ala) NC_000013.11:51970593:A:C p.(Ser481Ala) NC_000013.11:51970593:A:C Identity +NM_004415.4:c.4408G>A NP_004406.2:p.Asp1470Asn NC_000006.12:7580597:G:A p.(Asp1470Asn) NC_000006.12:7580597:G:A p.(Asp1470Asn) NC_000006.12:7580597:G:A Identity +NM_001406482.1:c.614C>G NP_001393411.1:p.Thr205Ser NC_000015.10:34792409:G:C p.(Thr205Ser) NC_000015.10:34792409:G:C p.(Thr205Ser) NC_000015.10:34792409:G:C Identity +NM_000257.4:c.2983G>A NP_000248.2:p.Glu995Lys NC_000014.9:23423662:C:T p.(Glu995Lys) NC_000014.9:23423662:C:T p.(Glu995Lys) NC_000014.9:23423662:C:T Identity +NM_001256850.1:c.87361A>T NP_001243779.1:p.Lys29121Ter NC_000002.12:178549341:T:A p.(Lys29121Ter) NC_000002.12:178549341:T:A p.(Lys29121Ter) NC_000002.12:178549341:T:A Identity +NM_001388431.1:c.319A>C NP_001375360.1:p.Met107Leu NC_000017.11:29619652:T:G p.(Met107Leu) NC_000017.11:29619652:T:G p.(Met107Leu) NC_000017.11:29619652:T:G Identity +NM_000256.3:c.688C>A NP_000247.2:p.Gln230Lys NC_000011.10:47348507:G:T p.(Gln230Lys) NC_000011.10:47348507:G:T p.(Gln230Lys) NC_000011.10:47348507:G:T Identity +NM_000256.3:c.2372A>G NP_000247.2:p.Gln791Arg NC_000011.10:47337730:T:C p.(Gln791Arg) NC_000011.10:47337730:T:C p.(Gln791Arg) NC_000011.10:47337730:T:C Identity +NM_001005242.3:c.880T>A NP_001005242.2:p.Ser294Thr NC_000012.12:32877999:A:T p.(Ser294Thr) NC_000012.12:32877999:A:T p.(Ser294Thr) NC_000012.12:32877999:A:T Identity +NM_016128.4:c.464T>A NP_057212.1:p.Val155Asp NC_000003.12:129255048:T:A p.(Val155Asp) NC_000003.12:129255048:T:A p.(Val155Asp) NC_000003.12:129255048:T:A Identity +NM_001199775.1:c.158C>G NP_001186704.1:p.Pro53Arg NC_000017.11:30385140:C:G p.(Pro53Arg) NC_000017.11:30385140:C:G p.(Pro53Arg) NC_000017.11:30385140:C:G Identity +NM_001177381.2:c.1856G>A NP_001170852.1:p.Arg619His NC_000004.12:15007497:G:A p.(Arg619His) NC_000004.12:15007497:G:A p.(Arg619His) NC_000004.12:15007497:G:A Identity +NM_001008844.3:c.4354G>A NP_001008844.1:p.Ala1452Thr NC_000006.12:7583412:G:A p.(Ala1452Thr) NC_000006.12:7583412:G:A p.(Ala1452Thr) NC_000006.12:7583412:G:A Identity +NM_000527.5:c.2341G>A NP_000518.1:p.Glu781Lys NC_000019.10:11128036:G:A p.(Glu781Lys) NC_000019.10:11128036:G:A p.(Glu781Lys) NC_000019.10:11128036:G:A Identity +NM_000548.5:c.5359G>C NP_000539.2:p.Gly1787Arg NC_000016.10:2088544:G:C p.(Gly1787Arg) NC_000016.10:2088544:G:C p.(Gly1787Arg) NC_000016.10:2088544:G:C Identity +NM_000321.3:c.25A>C NP_000312.2:p.Thr9Pro NC_000013.11:48303936:A:C p.(Thr9Pro) NC_000013.11:48303936:A:C p.(Thr9Pro) NC_000013.11:48303936:A:C Identity +NM_001387142.1:c.2594del NP_001374071.1:p.Leu865fs NC_000015.10:78001720:A: p.(Leu865ArgfsTer12) NC_000015.10:78001720:A: p.(Leu865ArgfsTer12) NC_000015.10:78001720:A: Analogous +NM_017421.4:c.757A>G NP_059117.3:p.Ile253Val NC_000006.12:99371559:T:C p.(Ile253Val) NC_000006.12:99371559:T:C p.(Ile253Val) NC_000006.12:99371559:T:C Identity +NM_133638.6:c.3547C>T NP_598377.4:p.Arg1183Cys NC_000005.10:129737122:C:T p.(Arg1183Cys) NC_000005.10:129737122:C:T p.(Arg1183Cys) NC_000005.10:129737122:C:T Identity +NM_001198863.2:c.412C>T NP_001185792.1:p.Arg138Cys NC_000020.11:35632206:G:A p.(Arg138Cys) NC_000020.11:35632206:G:A p.(Arg138Cys) NC_000020.11:35632206:G:A Identity +NM_018340.3:c.642C>A NP_060810.2:p.Asp214Glu NC_000016.10:12704696:G:T p.(Asp214Glu) NC_000016.10:12704696:G:T p.(Asp214Glu) NC_000016.10:12704696:G:T Identity +NM_001184699.2:c.1205C>G NP_001171628.1:p.Ser402Cys NC_000020.11:2796283:G:C p.(Ser402Cys) NC_000020.11:2796283:G:C p.(Ser402Cys) NC_000020.11:2796283:G:C Identity +NM_019609.5:c.1553G>T NP_062555.1:p.Arg518Leu NC_000020.11:2795765:C:A p.(Arg518Leu) NC_000020.11:2795765:C:A p.(Arg518Leu) NC_000020.11:2795765:C:A Identity +NM_015692.5:c.4049T>C NP_056507.3:p.Leu1350Pro NC_000019.10:16904530:A:G p.(Leu1350Pro) NC_000019.10:16904530:A:G p.(Leu1350Pro) NC_000019.10:16904530:A:G Identity +NM_000573.4:c.5516G>T NP_000564.2:p.Arg1839Leu NC_000001.11:207616778:G:T ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001393381.1:c.2038G>A NP_001380310.1:p.Glu680Lys NC_000004.12:56315539:G:A p.(Glu680Lys) NC_000004.12:56315539:G:A p.(Glu680Lys) NC_000004.12:56315539:G:A Identity +NM_001008844.3:c.5279T>C NP_001008844.1:p.Ile1760Thr NC_000006.12:7584337:T:C p.(Ile1760Thr) NC_000006.12:7584337:T:C p.(Ile1760Thr) NC_000006.12:7584337:T:C Identity +NM_000069.3:c.28G>A NP_000060.2:p.Gly10Ser NC_000001.11:201112311:C:T p.(Gly10Ser) NC_000001.11:201112311:C:T p.(Gly10Ser) NC_000001.11:201112311:C:T Identity +NM_000540.3:c.9763G>T NP_000531.2:p.Gly3255Trp NC_000019.10:38517435:G:T p.(Gly3255Trp) NC_000019.10:38517435:G:T p.(Gly3255Trp) NC_000019.10:38517435:G:T Identity +NM_000540.3:c.706G>A NP_000531.2:p.Asp236Asn NC_000019.10:38446545:G:A p.(Asp236Asn) NC_000019.10:38446545:G:A p.(Asp236Asn) NC_000019.10:38446545:G:A Identity +NM_001308388.2:c.574G>A NP_001295317.1:p.Val192Met NC_000003.12:9713002:G:A p.(Val192Met) NC_000003.12:9713002:G:A p.(Val192Met) NC_000003.12:9713002:G:A Identity +NM_001322270.2:c.2164G>C NP_001309199.1:p.Asp722His NC_000014.9:92161711:G:C p.(Asp722His) NC_000014.9:92161711:G:C p.(Asp722His) NC_000014.9:92161711:G:C Identity +NM_001321833.2:c.389T>C NP_001308762.1:p.Ile130Thr NC_000002.12:9432668:T:C p.(Ile130Thr) NC_000002.12:9432668:T:C p.(Ile130Thr) NC_000002.12:9432668:T:C Identity +NM_001348052.1:c.1171G>A NP_001334981.1:p.Val391Met NC_000007.14:29030725:C:T p.(Val391Met) NC_000007.14:29030725:C:T p.(Val391Met) NC_000007.14:29030725:C:T Identity +NM_020825.4:c.2911C>A NP_065876.3:p.Pro971Thr NC_000016.10:1666474:C:A p.(Pro971Thr) NC_000016.10:1666474:C:A p.(Pro971Thr) NC_000016.10:1666474:C:A Identity +NM_001144061.2:c.2324T>C NP_001137533.1:p.Leu775Ser NC_000011.10:14464996:A:G p.(Leu775Ser) NC_000011.10:14464996:A:G p.(Leu775Ser) NC_000011.10:14464996:A:G Identity +NM_001105237.2:c.1462G>A NP_001098707.1:p.Val488Met NC_000012.12:108648606:C:T p.(Val488Met) NC_000012.12:108648606:C:T p.(Val488Met) NC_000012.12:108648606:C:T Identity +NM_001173482.1:c.31G>T NP_001166953.1:p.Ala11Ser NC_000003.12:3179656:C:A p.(Ala11Ser) NC_000003.12:3179656:C:A p.(Ala11Ser) NC_000003.12:3179656:C:A Identity +NM_001320336.3:c.1228C>T NP_001307265.1:p.Arg410Cys NC_000001.11:161195497:G:A p.(Arg410Cys) NC_000001.11:161195497:G:A p.(Arg410Cys) NC_000001.11:161195497:G:A Identity +NM_133638.6:c.3094G>A NP_598377.4:p.Ala1032Thr NC_000005.10:129701526:G:A p.(Ala1032Thr) NC_000005.10:129701526:G:A p.(Ala1032Thr) NC_000005.10:129701526:G:A Identity +NM_000663.5:c.122A>C NP_000654.2:p.Tyr41Ser NC_000016.10:8746051:A:C p.(Tyr41Ser) NC_000016.10:8746051:A:C p.(Tyr41Ser) NC_000016.10:8746051:A:C Identity +NM_197941.4:c.2015G>C NP_922932.2:p.Gly672Ala NC_000005.10:65226137:C:G p.(Gly672Ala) NC_000005.10:65226137:C:G p.(Gly672Ala) NC_000005.10:65226137:C:G Identity +NM_001371242.2:c.3010C>T NP_001358171.1:p.Pro1004Ser NC_000006.12:106520217:C:T p.(Pro1004Ser) NC_000006.12:106520217:C:T p.(Pro1004Ser) NC_000006.12:106520217:C:T Identity +NM_001039775.4:c.31G>A NP_001034864.2:p.Ala11Thr NC_000001.11:26346626:C:T p.(Ala11Thr) NC_000001.11:26346626:C:T p.(Ala11Thr) NC_000001.11:26346626:C:T Identity +NM_001039775.4:c.4276G>A NP_001034864.2:p.Ala1426Thr NC_000001.11:26331526:C:T p.(Ala1426Thr) NC_000001.11:26331526:C:T p.(Ala1426Thr) NC_000001.11:26331526:C:T Identity +NM_014675.5:c.4736C>T NP_055490.4:p.Ala1579Val NC_000001.11:16966446:C:T p.(Ala1579Val) NC_000001.11:16966446:C:T p.(Ala1579Val) NC_000001.11:16966446:C:T Identity +NM_001143935.2:c.1490T>C NP_001137407.1:p.Met497Thr NC_000007.14:87391692:T:C p.(Met497Thr) NC_000007.14:87391692:T:C p.(Met497Thr) NC_000007.14:87391692:T:C Identity +NM_000567.3:c.302T>C NP_000558.2:p.Leu101Ser NC_000001.11:159713897:A:G p.(Leu101Ser) NC_000001.11:159713897:A:G p.(Leu101Ser) NC_000001.11:159713897:A:G Identity +NM_000540.3:c.11488A>G NP_000531.2:p.Ser3830Gly NC_000019.10:38535363:A:G p.(Ser3830Gly) NC_000019.10:38535363:A:G p.(Ser3830Gly) NC_000019.10:38535363:A:G Identity +NM_000053.4:c.4339G>A NP_000044.2:p.Asp1447Asn NC_000013.11:51934814:C:T p.(Asp1447Asn) NC_000013.11:51934814:C:T p.(Asp1447Asn) NC_000013.11:51934814:C:T Identity +NM_020989.4:c.169T>G NP_066269.1:p.Leu57Val NC_000002.12:208129523:A:C p.(Leu57Val) NC_000002.12:208129523:A:C p.(Leu57Val) NC_000002.12:208129523:A:C Identity +NM_001371242.2:c.5444C>T NP_001358171.1:p.Ser1815Phe NC_000006.12:106552187:C:T p.(Ser1815Phe) NC_000006.12:106552187:C:T p.(Ser1815Phe) NC_000006.12:106552187:C:T Identity +NM_001039775.4:c.2224C>T NP_001034864.2:p.Pro742Ser NC_000001.11:26344433:G:A p.(Pro742Ser) NC_000001.11:26344433:G:A p.(Pro742Ser) NC_000001.11:26344433:G:A Identity +NM_001039775.4:c.2493G>T NP_001034864.2:p.Glu831Asp NC_000001.11:26344164:C:A p.(Glu831Asp) NC_000001.11:26344164:C:A p.(Glu831Asp) NC_000001.11:26344164:C:A Identity +NM_014272.5:c.4039A>G NP_055087.2:p.Met1347Val NC_000015.10:78765871:T:C p.(Met1347Val) NC_000015.10:78765871:T:C p.(Met1347Val) NC_000015.10:78765871:T:C Identity +NM_001897.5:c.1330A>G NP_001888.2:p.Thr444Ala NC_000015.10:75689734:T:C p.(Thr444Ala) NC_000015.10:75689734:T:C p.(Thr444Ala) NC_000015.10:75689734:T:C Identity +NM_001289112.2:c.66G>A NP_001276041.1:p.Met22Ile NC_000003.12:131905431:C:T p.(Met22Ile) NC_000003.12:131905431:C:T p.(Met22Ile) NC_000003.12:131905431:C:T Identity +NM_014427.5:c.608G>T NP_055242.1:p.Arg203Leu NC_000016.10:89583721:G:T p.(Arg203Leu) NC_000016.10:89583721:G:T p.(Arg203Leu) NC_000016.10:89583721:G:T Identity +NM_001322270.2:c.436A>G NP_001309199.1:p.Ile146Val NC_000014.9:92135386:A:G p.(Ile146Val) NC_000014.9:92135386:A:G p.(Ile146Val) NC_000014.9:92135386:A:G Identity +NM_001363647.2:c.490A>G NP_001350576.1:p.Ser164Gly NC_000013.11:20413368:T:C p.(Ser164Gly) NC_000013.11:20413368:T:C p.(Ser164Gly) NC_000013.11:20413368:T:C Identity +NM_000395.3:c.1544G>T NP_000386.1:p.Gly515Val NC_000022.11:36936627:G:T p.(Gly515Val) NC_000022.11:36936627:G:T p.(Gly515Val) NC_000022.11:36936627:G:T Identity +NM_001172173.2:c.852A>C NP_001165644.1:p.Gln284His NC_000002.12:165678846:A:C p.(Gln284His) NC_000002.12:165678846:A:C p.(Gln284His) NC_000002.12:165678846:A:C Identity +NM_001322.3:c.183T>A NP_001313.1:p.Asp61Glu NC_000020.11:23826477:A:T p.(Asp61Glu) NC_000020.11:23826477:A:T p.(Asp61Glu) NC_000020.11:23826477:A:T Identity +NM_138283.1:c.208A>G NP_612140.1:p.Ser70Gly NC_000020.11:23440474:A:G p.(Ser70Gly) NC_000020.11:23440474:A:G p.(Ser70Gly) NC_000020.11:23440474:A:G Identity +NM_001348052.1:c.1217A>G NP_001334981.1:p.Lys406Arg NC_000007.14:29030679:T:C p.(Lys406Arg) NC_000007.14:29030679:T:C p.(Lys406Arg) NC_000007.14:29030679:T:C Identity +NM_001393381.1:c.1237G>C NP_001380310.1:p.Glu413Gln NC_000004.12:56314738:G:C p.(Glu413Gln) NC_000004.12:56314738:G:C p.(Glu413Gln) NC_000004.12:56314738:G:C Identity +NM_001281956.2:c.5486C>A NP_001268885.1:p.Ala1829Glu NC_000001.11:33625064:G:T p.(Ala1829Glu) NC_000001.11:33625064:G:T p.(Ala1829Glu) NC_000001.11:33625064:G:T Identity +NM_001897.5:c.418C>G NP_001888.2:p.Leu140Val NC_000015.10:75690646:G:C p.(Leu140Val) NC_000015.10:75690646:G:C p.(Leu140Val) NC_000015.10:75690646:G:C Identity +NM_001101.5:c.814T>C NP_001092.1:p.Cys272Arg NC_000007.14:5528173:A:G p.(Cys272Arg) NC_000007.14:5528173:A:G p.(Cys272Arg) NC_000007.14:5528173:A:G Identity +NM_001260492.2:c.1557G>C NP_001247421.1:p.Gln519His NC_000011.10:110233266:C:G p.(Gln519His) NC_000011.10:110233266:C:G p.(Gln519His) NC_000011.10:110233266:C:G Identity +NM_000540.3:c.3364del NP_000531.2:p.Val1122fs NC_000019.10:38467794:G: p.(Val1122SerfsTer30) NC_000019.10:38467794:G: p.(Val1122SerfsTer30) NC_000019.10:38467794:G: Analogous +NM_001320559.2:c.492G>T NP_001307488.1:p.Leu164Phe NC_000003.12:39145029:C:A p.(Leu164Phe) NC_000003.12:39145029:C:A p.(Leu164Phe) NC_000003.12:39145029:C:A Identity +NM_001008693.3:c.457A>T NP_001008693.2:p.Ile153Phe NC_000020.11:23603532:T:A p.(Ile153Phe) NC_000020.11:23603532:T:A p.(Ile153Phe) NC_000020.11:23603532:T:A Identity +NM_001318781.2:c.1556A>G NP_001305710.1:p.Asn519Ser NC_000003.12:64648009:T:C p.(Asn519Ser) NC_000003.12:64648009:T:C p.(Asn519Ser) NC_000003.12:64648009:T:C Identity +NM_001318781.2:c.2636A>G NP_001305710.1:p.Glu879Gly NC_000003.12:64621206:T:C p.(Glu879Gly) NC_000003.12:64621206:T:C p.(Glu879Gly) NC_000003.12:64621206:T:C Identity +NM_001335.4:c.421A>G NP_001326.3:p.Ile141Val NC_000011.10:65882308:A:G p.(Ile141Val) NC_000011.10:65882308:A:G p.(Ile141Val) NC_000011.10:65882308:A:G Identity +NM_001081.4:c.494C>T NP_001072.2:p.Pro165Leu NC_000010.11:17122893:G:A p.(Pro165Leu) NC_000010.11:17122893:G:A p.(Pro165Leu) NC_000010.11:17122893:G:A Identity +NM_015089.4:c.1274G>A NP_055904.1:p.Arg425His NC_000006.12:43186981:G:A p.(Arg425His) NC_000006.12:43186981:G:A p.(Arg425His) NC_000006.12:43186981:G:A Identity +NM_001393381.1:c.979G>T NP_001380310.1:p.Ala327Ser NC_000004.12:56314480:G:T p.(Ala327Ser) NC_000004.12:56314480:G:T p.(Ala327Ser) NC_000004.12:56314480:G:T Identity +NM_207362.3:c.2112G>C NP_997245.2:p.Lys704Asn NC_000002.12:98822160:C:G p.(Lys704Asn) NC_000002.12:98822160:C:G p.(Lys704Asn) NC_000002.12:98822160:C:G Identity +NM_020825.4:c.3704G>A NP_065876.3:p.Arg1235Gln NC_000016.10:1673938:G:A p.(Arg1235Gln) NC_000016.10:1673938:G:A p.(Arg1235Gln) NC_000016.10:1673938:G:A Identity +NM_001144061.2:c.1288C>T NP_001137533.1:p.Arg430Cys NC_000011.10:14479638:G:A p.(Arg430Cys) NC_000011.10:14479638:G:A p.(Arg430Cys) NC_000011.10:14479638:G:A Identity +NM_001346279.2:c.2687T>A NP_001333208.1:p.Phe896Tyr NC_000011.10:10774042:T:A p.(Phe896Tyr) NC_000011.10:10774042:T:A p.(Phe896Tyr) NC_000011.10:10774042:T:A Identity +LRG_1123t1:c.4486A>C LRG_1123p1:p.Ser1496Arg NC_000007.14:102249009:A:C ERR:Data provider error: ValueError: Transcript LRG_1123t1 not found ERR:Data provider error: ValueError: Transcript LRG_1123t1 not found ERR:AlignmentMapper(tx_ac=LRG_1123t1, alt_ac=LRG_1123t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1123t1, alt_ac=LRG_1123t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1123t1 not found +NM_001286791.2:c.635G>T NP_001273720.1:p.Gly212Val NC_000004.12:48998461:G:T p.(Gly212Val) NC_000004.12:48998461:G:T p.(Gly212Val) NC_000004.12:48998461:G:T Identity +NM_001168298.2:c.569C>T NP_001161770.1:p.Ser190Phe NC_000002.12:218135369:C:T p.(Ser190Phe) NC_000002.12:218135369:C:T p.(Ser190Phe) NC_000002.12:218135369:C:T Identity +NM_001363349.1:c.3836C>T NP_001350278.1:p.Ala1279Val NC_000007.14:117728253:G:A p.(Ala1279Val) NC_000007.14:117728253:G:A p.(Ala1279Val) NC_000007.14:117728253:G:A Identity +NM_018704.3:c.583G>A NP_061174.1:p.Glu195Lys NC_000001.11:112456074:G:A p.(Glu195Lys) NC_000001.11:112456074:G:A p.(Glu195Lys) NC_000001.11:112456074:G:A Identity +NM_001012759.3:c.977C>T NP_001012777.1:p.Ser326Phe NC_000016.10:88713749:C:T p.(Ser326Phe) NC_000016.10:88713749:C:T p.(Ser326Phe) NC_000016.10:88713749:C:T Identity +NM_016243.3:c.794A>G NP_057327.2:p.His265Arg NC_000001.11:202962650:T:C p.(His265Arg) NC_000001.11:202962650:T:C p.(His265Arg) NC_000001.11:202962650:T:C Identity +NM_001202543.2:c.4109G>C NP_001189472.1:p.Gly1370Ala NC_000007.14:102248599:G:C p.(Gly1370Ala) NC_000007.14:102248599:G:C p.(Gly1370Ala) NC_000007.14:102248599:G:C Identity +NM_001371242.2:c.5117C>G NP_001358171.1:p.Ala1706Gly NC_000006.12:106544647:C:G p.(Ala1706Gly) NC_000006.12:106544647:C:G p.(Ala1706Gly) NC_000006.12:106544647:C:G Identity +NM_001371242.2:c.5945G>A NP_001358171.1:p.Cys1982Tyr NC_000006.12:106560891:G:A p.(Cys1982Tyr) NC_000006.12:106560891:G:A p.(Cys1982Tyr) NC_000006.12:106560891:G:A Identity +NM_001400774.1:c.1215A>C NP_001387703.1:p.Gln405His NC_000006.12:83940571:A:C p.(Gln405His) NC_000006.12:83940571:A:C p.(Gln405His) NC_000006.12:83940571:A:C Identity +NM_000785.4:c.571T>C NP_000776.1:p.Tyr191His NC_000012.12:57765314:A:G p.(Tyr191His) NC_000012.12:57765314:A:G p.(Tyr191His) NC_000012.12:57765314:A:G Identity +NM_000764.3:c.5T>A NP_000755.2:p.Leu2Gln NC_000019.10:40882205:A:T p.(Leu2Gln) NC_000019.10:40882205:A:T p.(Leu2Gln) NC_000019.10:40882205:A:T Identity +NM_001102576.3:c.221C>T NP_001096046.2:p.Thr74Ile NC_000023.11:152727809:G:A p.(Thr74Ile) NC_000023.11:152727809:G:A p.(Thr74Ile) NC_000023.11:152727809:G:A Identity +NM_001007553.3:c.136C>G NP_001007554.1:p.Gln46Glu NC_000001.11:114739754:G:C p.(Gln46Glu) NC_000001.11:114739754:G:C p.(Gln46Glu) NC_000001.11:114739754:G:C Identity +NM_001288705.3:c.145G>A NP_001275634.1:p.Glu49Lys NC_000005.10:150080928:C:T p.(Glu49Lys) NC_000005.10:150080928:C:T p.(Glu49Lys) NC_000005.10:150080928:C:T Identity +NM_000773.4:c.155A>G NP_000764.1:p.Asn52Ser NC_000010.11:133527549:A:G p.(Asn52Ser) NC_000010.11:133527549:A:G p.(Asn52Ser) NC_000010.11:133527549:A:G Identity +NM_001278738.2:c.79C>T NP_001265667.1:p.Arg27Cys NC_000006.12:46652503:G:A p.(Arg27Cys) NC_000006.12:46652503:G:A p.(Arg27Cys) NC_000006.12:46652503:G:A Identity +NM_001128932.2:c.1319A>G NP_001122404.1:p.Tyr440Cys NC_000019.10:15914382:T:C p.(Tyr440Cys) NC_000019.10:15914382:T:C p.(Tyr440Cys) NC_000019.10:15914382:T:C Identity +NM_001282949.3:c.662A>C NP_001269878.1:p.Lys221Thr NC_000002.12:231807613:A:C p.(Lys221Thr) NC_000002.12:231807613:A:C p.(Lys221Thr) NC_000002.12:231807613:A:C Identity +NM_001286350.2:c.613G>A NP_001273279.1:p.Gly205Ser NC_000006.12:168308633:C:T p.(Gly205Ser) NC_000006.12:168308633:C:T p.(Gly205Ser) NC_000006.12:168308633:C:T Identity +NM_001352033.2:c.749C>G NP_001338962.1:p.Ala250Gly NC_000019.10:1430242:C:G p.(Ala250Gly) NC_000019.10:1430242:C:G p.(Ala250Gly) NC_000019.10:1430242:C:G Identity +NM_001281956.2:c.6389G>C NP_001268885.1:p.Gly2130Ala NC_000001.11:33605424:C:G p.(Gly2130Ala) NC_000001.11:33605424:C:G p.(Gly2130Ala) NC_000001.11:33605424:C:G Identity +NM_198123.2:c.1088C>G NP_937756.1:p.Thr363Ser NC_000008.11:112976090:G:C p.(Thr363Ser) NC_000008.11:112976090:G:C p.(Thr363Ser) NC_000008.11:112976090:G:C Identity +NM_001037160.3:c.341A>G NP_001032237.1:p.Glu114Gly NC_000002.12:10065933:T:C p.(Glu114Gly) NC_000002.12:10065933:T:C p.(Glu114Gly) NC_000002.12:10065933:T:C Identity +NM_001136264.2:c.332C>T NP_001129736.1:p.Pro111Leu NC_000012.12:51242348:C:T p.(Pro111Leu) NC_000012.12:51242348:C:T p.(Pro111Leu) NC_000012.12:51242348:C:T Identity +NM_001079862.4:c.104C>T NP_001073331.1:p.Ala35Val NC_000002.12:119368281:C:T p.(Ala35Val) NC_000002.12:119368281:C:T p.(Ala35Val) NC_000002.12:119368281:C:T Identity +NM_080610.3:c.136T>A NP_542177.1:p.Tyr46Asn NC_000020.11:23568314:A:T p.(Tyr46Asn) NC_000020.11:23568314:A:T p.(Tyr46Asn) NC_000020.11:23568314:A:T Identity +NM_015235.3:c.365A>G NP_056050.1:p.Glu122Gly NC_000010.11:51699184:T:C p.(Glu122Gly) NC_000010.11:51699184:T:C p.(Glu122Gly) NC_000010.11:51699184:T:C Identity +NM_001330004.2:c.83C>T NP_001316933.1:p.Ala28Val NC_000002.12:227889869:C:T p.(Ala28Val) NC_000002.12:227889869:C:T p.(Ala28Val) NC_000002.12:227889869:C:T Identity +NM_001190811.2:c.245G>A NP_001177740.1:p.Arg82Lys NC_000003.12:16598143:C:T p.(Arg82Lys) NC_000003.12:16598143:C:T p.(Arg82Lys) NC_000003.12:16598143:C:T Identity +NM_001145659.1:c.2231G>A NP_001139131.1:p.Gly744Asp NC_000006.12:131708786:C:T p.(Gly744Asp) NC_000006.12:131708786:C:T p.(Gly744Asp) NC_000006.12:131708786:C:T Identity +NM_001269040.2:c.632G>T NP_001255969.1:p.Arg211Ile NC_000020.11:57523189:C:A p.(Arg211Ile) NC_000020.11:57523189:C:A p.(Arg211Ile) NC_000020.11:57523189:C:A Identity +NM_001164883.2:c.1121G>A NP_001158355.1:p.Arg374Lys NC_000002.12:80393274:G:A p.(Arg374Lys) NC_000002.12:80393274:G:A p.(Arg374Lys) NC_000002.12:80393274:G:A Identity +NM_001127441.2:c.701T>C NP_001120913.1:p.Ile234Thr NC_000007.14:130362947:T:C p.(Ile234Thr) NC_000007.14:130362947:T:C p.(Ile234Thr) NC_000007.14:130362947:T:C Identity +NM_001079533.2:c.1323T>G NP_001073001.1:p.His441Gln NC_000015.10:82546482:A:C p.(His441Gln) NC_000015.10:82546482:A:C p.(His441Gln) NC_000015.10:82546482:A:C Identity +NM_013291.3:c.1646A>G NP_037423.2:p.Asn549Ser NC_000008.11:144398630:T:C p.(Asn549Ser) NC_000008.11:144398630:T:C p.(Asn549Ser) NC_000008.11:144398630:T:C Identity +NM_001012759.3:c.920T>C NP_001012777.1:p.Met307Thr NC_000016.10:88713692:T:C p.(Met307Thr) NC_000016.10:88713692:T:C p.(Met307Thr) NC_000016.10:88713692:T:C Identity +NM_000573.4:c.895C>T NP_000564.2:p.Pro299Ser NC_000001.11:207526760:C:T ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:Data provider error: ValueError: Transcript NM_000573.4 not found ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000573.4, alt_ac=NM_000573.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000573.4 not found +NM_001006658.3:c.733G>A NP_001006659.1:p.Gly245Arg NC_000001.11:207468897:G:A p.(Gly245Arg) NC_000001.11:207468897:G:A p.(Gly245Arg) NC_000001.11:207468897:G:A Identity +NM_207362.3:c.1631G>A NP_997245.2:p.Arg544Gln NC_000002.12:98822641:C:T p.(Arg544Gln) NC_000002.12:98822641:C:T p.(Arg544Gln) NC_000002.12:98822641:C:T Identity +NM_015089.4:c.4279C>T NP_055904.1:p.His1427Tyr NC_000006.12:43204478:C:T p.(His1427Tyr) NC_000006.12:43204478:C:T p.(His1427Tyr) NC_000006.12:43204478:C:T Identity +NM_173689.7:c.1040C>T NP_775960.4:p.Pro347Leu NC_000009.12:123367671:C:T p.(Pro347Leu) NC_000009.12:123367671:C:T p.(Pro347Leu) NC_000009.12:123367671:C:T Identity +NM_001037333.3:c.1426A>G NP_001032410.1:p.Arg476Gly NC_000005.10:157319830:A:G p.(Arg476Gly) NC_000005.10:157319830:A:G p.(Arg476Gly) NC_000005.10:157319830:A:G Identity +NM_134268.5:c.376A>T NP_599030.1:p.Ile126Phe NC_000017.11:76531141:T:A p.(Ile126Phe) NC_000017.11:76531141:T:A p.(Ile126Phe) NC_000017.11:76531141:T:A Identity +NM_000104.4:c.308T>G NP_000095.2:p.Ile103Ser NC_000002.12:38075080:A:C p.(Ile103Ser) NC_000002.12:38075080:A:C p.(Ile103Ser) NC_000002.12:38075080:A:C Identity +NM_000770.3:c.155A>G NP_000761.3:p.Lys52Arg NC_000010.11:95069247:T:C p.(Lys52Arg) NC_000010.11:95069247:T:C p.(Lys52Arg) NC_000010.11:95069247:T:C Identity +NM_016441.3:c.3047G>T NP_057525.1:p.Ser1016Ile NC_000002.12:36548636:G:T p.(Ser1016Ile) NC_000002.12:36548636:G:T p.(Ser1016Ile) NC_000002.12:36548636:G:T Identity +NM_001288607.2:c.1963C>G NP_001275536.1:p.Arg655Gly NC_000001.11:150557525:C:G p.(Arg655Gly) NC_000001.11:150557525:C:G p.(Arg655Gly) NC_000001.11:150557525:C:G Identity +NM_001010969.4:c.788C>T NP_001010969.2:p.Thr263Ile NC_000001.11:47143913:C:T p.(Thr263Ile) NC_000001.11:47143913:C:T p.(Thr263Ile) NC_000001.11:47143913:C:T Identity +NM_001128932.2:c.508A>C NP_001122404.1:p.Ser170Arg NC_000019.10:15927228:T:G p.(Ser170Arg) NC_000019.10:15927228:T:G p.(Ser170Arg) NC_000019.10:15927228:T:G Identity +NM_001082.5:c.794A>G NP_001073.3:p.Asp265Gly NC_000019.10:15889546:T:C p.(Asp265Gly) NC_000019.10:15889546:T:C p.(Asp265Gly) NC_000019.10:15889546:T:C Identity +NM_001371242.2:c.3382G>A NP_001358171.1:p.Ala1128Thr NC_000006.12:106520589:G:A p.(Ala1128Thr) NC_000006.12:106520589:G:A p.(Ala1128Thr) NC_000006.12:106520589:G:A Identity +NM_001371242.2:c.5822C>T NP_001358171.1:p.Thr1941Ile NC_000006.12:106558591:C:T p.(Thr1941Ile) NC_000006.12:106558591:C:T p.(Thr1941Ile) NC_000006.12:106558591:C:T Identity +NM_001039775.4:c.2637T>A NP_001034864.2:p.His879Gln NC_000001.11:26344020:A:T p.(His879Gln) NC_000001.11:26344020:A:T p.(His879Gln) NC_000001.11:26344020:A:T Identity +NM_001244871.2:c.423A>C NP_001231800.1:p.Glu141Asp NC_000005.10:39390482:T:G p.(Glu141Asp) NC_000005.10:39390482:T:G p.(Glu141Asp) NC_000005.10:39390482:T:G Identity +NM_139179.4:c.433G>A NP_631918.3:p.Ala145Thr NC_000007.14:6435006:C:T p.(Ala145Thr) NC_000007.14:6435006:C:T p.(Ala145Thr) NC_000007.14:6435006:C:T Identity +NM_001039775.4:c.4580G>A NP_001034864.2:p.Arg1527His NC_000001.11:26324308:C:T p.(Arg1527His) NC_000001.11:26324308:C:T p.(Arg1527His) NC_000001.11:26324308:C:T Identity +NM_001308292.1:c.221G>A NP_001295221.1:p.Arg74His NC_000007.14:151438044:C:T p.(Arg74His) NC_000007.14:151438044:C:T p.(Arg74His) NC_000007.14:151438044:C:T Identity +NM_001256135.2:c.227T>G NP_001243064.1:p.Ile76Ser NC_000020.11:49063342:T:G p.(Ile76Ser) NC_000020.11:49063342:T:G p.(Ile76Ser) NC_000020.11:49063342:T:G Identity +NM_001349.4:c.11C>T NP_001340.2:p.Ala4Val NC_000002.12:135985457:G:A p.(Ala4Val) NC_000002.12:135985457:G:A p.(Ala4Val) NC_000002.12:135985457:G:A Identity +NM_001142544.3:c.293C>T NP_001136016.1:p.Pro98Leu NC_000016.10:30902228:C:T p.(Pro98Leu) NC_000016.10:30902228:C:T p.(Pro98Leu) NC_000016.10:30902228:C:T Identity +NM_001318781.2:c.3245C>A NP_001305710.1:p.Ser1082Tyr NC_000003.12:64613369:G:T p.(Ser1082Tyr) NC_000003.12:64613369:G:T p.(Ser1082Tyr) NC_000003.12:64613369:G:T Identity +NM_001190463.2:c.285A>T NP_001177392.1:p.Glu95Asp NC_000001.11:70421599:A:T p.(Glu95Asp) NC_000001.11:70421599:A:T p.(Glu95Asp) NC_000001.11:70421599:A:T Identity +NM_001346279.2:c.2204A>G NP_001333208.1:p.Glu735Gly NC_000011.10:10770303:A:G p.(Glu735Gly) NC_000011.10:10770303:A:G p.(Glu735Gly) NC_000011.10:10770303:A:G Identity +NM_001329190.2:c.88G>A NP_001316119.1:p.Gly30Ser NC_000016.10:75222802:G:A p.(Gly30Ser) NC_000016.10:75222802:G:A p.(Gly30Ser) NC_000016.10:75222802:G:A Identity +NM_001363349.1:c.1375A>G NP_001350278.1:p.Thr459Ala NC_000007.14:117791766:T:C p.(Thr459Ala) NC_000007.14:117791766:T:C p.(Thr459Ala) NC_000007.14:117791766:T:C Identity +NM_001363349.1:c.2615A>G NP_001350278.1:p.Glu872Gly NC_000007.14:117777619:T:C p.(Glu872Gly) NC_000007.14:117777619:T:C p.(Glu872Gly) NC_000007.14:117777619:T:C Identity +NM_018704.3:c.1144G>T NP_061174.1:p.Ala382Ser NC_000001.11:112456635:G:T p.(Ala382Ser) NC_000001.11:112456635:G:T p.(Ala382Ser) NC_000001.11:112456635:G:T Identity +NM_001370660.1:c.304A>G NP_001357589.1:p.Asn102Asp NC_000007.14:148754138:A:G p.(Asn102Asp) NC_000007.14:148754138:A:G p.(Asn102Asp) NC_000007.14:148754138:A:G Identity +NM_001202543.2:c.3082G>A NP_001189472.1:p.Val1028Ile NC_000007.14:102204531:G:A p.(Val1028Ile) NC_000007.14:102204531:G:A p.(Val1028Ile) NC_000007.14:102204531:G:A Identity +NM_001040272.6:c.5038G>T NP_001035362.3:p.Ala1680Ser NC_000009.12:18906767:G:T p.(Ala1680Ser) NC_000009.12:18906767:G:T p.(Ala1680Ser) NC_000009.12:18906767:G:T Identity +NM_152434.3:c.950G>T NP_689647.2:p.Arg317Ile NC_000011.10:107429281:C:A p.(Arg317Ile) NC_000011.10:107429281:C:A p.(Arg317Ile) NC_000011.10:107429281:C:A Identity +NM_000634.3:c.212G>A NP_000625.1:p.Arg71His NC_000002.12:218164999:C:T p.(Arg71His) NC_000002.12:218164999:C:T p.(Arg71His) NC_000002.12:218164999:C:T Identity +NM_001017916.2:c.44A>T NP_001017916.1:p.Tyr15Phe NC_000017.11:63437503:T:A p.(Tyr15Phe) NC_000017.11:63437503:T:A p.(Tyr15Phe) NC_000017.11:63437503:T:A Identity +NM_001340.5:c.754A>C NP_001331.1:p.Asn252His NC_000009.12:103005384:A:C p.(Asn252His) NC_000009.12:103005384:A:C p.(Asn252His) NC_000009.12:103005384:A:C Identity +NM_000783.4:c.742G>C NP_000774.2:p.Glu248Gln NC_000010.11:93075184:G:C p.(Glu248Gln) NC_000010.11:93075184:G:C p.(Glu248Gln) NC_000010.11:93075184:G:C Identity +NM_001270520.2:c.2140C>G NP_001257449.1:p.Pro714Ala NC_000014.9:59347602:C:G p.(Pro714Ala) NC_000014.9:59347602:C:G p.(Pro714Ala) NC_000014.9:59347602:C:G Identity +NM_001079520.2:c.1997G>A NP_001072988.1:p.Gly666Glu NC_000014.9:58646730:G:A p.(Gly666Glu) NC_000014.9:58646730:G:A p.(Gly666Glu) NC_000014.9:58646730:G:A Identity +NM_001346712.2:c.40C>G NP_001333641.1:p.Leu14Val NC_000017.11:30922053:C:G p.(Leu14Val) NC_000017.11:30922053:C:G p.(Leu14Val) NC_000017.11:30922053:C:G Identity +NM_001161812.1:c.2T>C NP_001155284.1:p.Met1Thr NC_000013.11:105472598:T:C p.(Met1Thr) NC_000013.11:105472598:T:C p.Met1? NC_000013.11:105472598:T:C Identity +NM_016216.4:c.794A>G NP_057300.2:p.Gln265Arg NC_000003.12:138163778:T:C p.(Gln265Arg) NC_000003.12:138163778:T:C p.(Gln265Arg) NC_000003.12:138163778:T:C Identity +NM_001029955.4:c.36G>C NP_001025126.2:p.Glu12Asp NC_000004.12:41981827:G:C p.(Glu12Asp) NC_000004.12:41981827:G:C p.(Glu12Asp) NC_000004.12:41981827:G:C Identity +NM_001017930.2:c.586G>T NP_001017930.1:p.Ala196Ser NC_000023.11:27980748:C:A p.(Ala196Ser) NC_000023.11:27980748:C:A p.(Ala196Ser) NC_000023.11:27980748:C:A Identity +NM_016216.4:c.148C>G NP_057300.2:p.Arg50Gly NC_000003.12:138174647:G:C p.(Arg50Gly) NC_000003.12:138174647:G:C p.(Arg50Gly) NC_000003.12:138174647:G:C Identity +NM_001163484.2:c.626T>G NP_001156956.1:p.Phe209Cys NC_000014.9:24118435:T:G p.(Phe209Cys) NC_000014.9:24118435:T:G p.(Phe209Cys) NC_000014.9:24118435:T:G Identity +NM_001042610.3:c.395A>G NP_001036075.1:p.Glu132Gly NC_000016.10:90006416:T:C p.(Glu132Gly) NC_000016.10:90006416:T:C p.(Glu132Gly) NC_000016.10:90006416:T:C Identity +NM_015420.7:c.247C>T NP_056235.5:p.Leu83Phe NC_000008.11:103420439:C:T p.(Leu83Phe) NC_000008.11:103420439:C:T p.(Leu83Phe) NC_000008.11:103420439:C:T Identity +NM_015726.4:c.1381C>T NP_056541.2:p.Leu461Phe NC_000001.11:160222709:G:A p.(Leu461Phe) NC_000001.11:160222709:G:A p.(Leu461Phe) NC_000001.11:160222709:G:A Identity +NM_001366458.2:c.377G>A NP_001353387.1:p.Ser126Asn NC_000006.12:117519866:G:A p.(Ser126Asn) NC_000006.12:117519866:G:A p.(Ser126Asn) NC_000006.12:117519866:G:A Identity +NM_005215.4:c.1156C>G NP_005206.2:p.Arg386Gly NC_000018.10:53066060:C:G p.(Arg386Gly) NC_000018.10:53066060:C:G p.(Arg386Gly) NC_000018.10:53066060:C:G Identity +NM_001142552.2:c.3409C>T NP_001136024.1:p.Pro1137Ser NC_000004.12:154332798:G:A p.(Pro1137Ser) NC_000004.12:154332798:G:A p.(Pro1137Ser) NC_000004.12:154332798:G:A Identity +NM_001143687.2:c.1384A>G NP_001137159.1:p.Ile462Val NC_000001.11:155046449:A:G p.(Ile462Val) NC_000001.11:155046449:A:G p.(Ile462Val) NC_000001.11:155046449:A:G Identity +NM_144622.3:c.1460G>A NP_653223.2:p.Arg487His NC_000001.11:155026597:C:T p.(Arg487His) NC_000001.11:155026597:C:T p.(Arg487His) NC_000001.11:155026597:C:T Identity +NM_001377321.1:c.4156G>A NP_001364250.1:p.Val1386Ile NC_000017.11:69152461:C:T p.(Val1386Ile) NC_000017.11:69152461:C:T p.(Val1386Ile) NC_000017.11:69152461:C:T Identity +NM_001923.5:c.2605G>A NP_001914.3:p.Ala869Thr NC_000011.10:61309038:C:T p.(Ala869Thr) NC_000011.10:61309038:C:T p.(Ala869Thr) NC_000011.10:61309038:C:T Identity +NM_000107.3:c.575G>A NP_000098.1:p.Arg192Gln NC_000011.10:47232931:G:A p.(Arg192Gln) NC_000011.10:47232931:G:A p.(Arg192Gln) NC_000011.10:47232931:G:A Identity +NM_001164232.2:c.1709G>A NP_001157704.1:p.Arg570Gln NC_000008.11:38252812:G:A p.(Arg570Gln) NC_000008.11:38252812:G:A p.(Arg570Gln) NC_000008.11:38252812:G:A Identity +NM_023935.3:c.610G>C NP_076424.1:p.Gly204Arg NC_000020.11:3195253:C:G p.(Gly204Arg) NC_000020.11:3195253:C:G p.(Gly204Arg) NC_000020.11:3195253:C:G Identity +NM_001142552.2:c.2657A>T NP_001136024.1:p.Tyr886Phe NC_000004.12:154334923:T:A p.(Tyr886Phe) NC_000004.12:154334923:T:A p.(Tyr886Phe) NC_000004.12:154334923:T:A Identity +NM_003737.4:c.7088C>G NP_003728.1:p.Thr2363Arg NC_000011.10:6625255:G:C p.(Thr2363Arg) NC_000011.10:6625255:G:C p.(Thr2363Arg) NC_000011.10:6625255:G:C Identity +NM_001142552.2:c.2810C>G NP_001136024.1:p.Pro937Arg NC_000004.12:154333397:G:C p.(Pro937Arg) NC_000004.12:154333397:G:C p.(Pro937Arg) NC_000004.12:154333397:G:C Identity +NM_001319292.2:c.212G>A NP_001306221.1:p.Gly71Glu NC_000012.12:1993370:C:T p.(Gly71Glu) NC_000012.12:1993370:C:T p.(Gly71Glu) NC_000012.12:1993370:C:T Identity +NM_144622.3:c.959G>A NP_653223.2:p.Arg320Gln NC_000001.11:155030491:C:T p.(Arg320Gln) NC_000001.11:155030491:C:T p.(Arg320Gln) NC_000001.11:155030491:C:T Identity +NM_001129889.3:c.668A>G NP_001123361.1:p.His223Arg NC_000013.11:94466585:T:C p.(His223Arg) NC_000013.11:94466585:T:C p.(His223Arg) NC_000013.11:94466585:T:C Identity +NM_001368170.1:c.405G>C NP_001355099.1:p.Gln135His NC_000006.12:110393233:C:G p.(Gln135His) NC_000006.12:110393233:C:G p.(Gln135His) NC_000006.12:110393233:C:G Identity +NM_052853.4:c.1441C>G NP_443085.2:p.Pro481Ala NC_000007.14:140687124:C:G p.(Pro481Ala) NC_000007.14:140687124:C:G p.(Pro481Ala) NC_000007.14:140687124:C:G Identity +NM_001014449.3:c.923A>G NP_001014449.1:p.Asn308Ser NC_000016.10:70333030:A:G p.(Asn308Ser) NC_000016.10:70333030:A:G p.(Asn308Ser) NC_000016.10:70333030:A:G Identity +NM_001001711.3:c.124G>A NP_001001711.1:p.Val42Ile NC_000011.10:104036945:G:A p.(Val42Ile) NC_000011.10:104036945:G:A p.(Val42Ile) NC_000011.10:104036945:G:A Identity +NM_145244.4:c.293C>T NP_660287.1:p.Thr98Met NC_000004.12:100187965:G:A p.(Thr98Met) NC_000004.12:100187965:G:A p.(Thr98Met) NC_000004.12:100187965:G:A Identity +NM_001202521.1:c.886C>T NP_001189450.1:p.Arg296Cys NC_000006.12:30892328:C:T p.(Arg296Cys) NC_000006.12:30892328:C:T p.(Arg296Cys) NC_000006.12:30892328:C:T Identity +NM_007204.5:c.1367A>G NP_009135.4:p.Lys456Arg NC_000001.11:111765790:A:G p.(Lys456Arg) NC_000001.11:111765790:A:G p.(Lys456Arg) NC_000001.11:111765790:A:G Identity +NM_001291476.2:c.1068G>C NP_001278405.1:p.Trp356Cys NC_000017.11:37621235:C:G p.(Trp356Cys) NC_000017.11:37621235:C:G p.(Trp356Cys) NC_000017.11:37621235:C:G Identity +NM_001031725.6:c.242C>T NP_001026895.2:p.Ala81Val NC_000001.11:200666498:G:A p.(Ala81Val) NC_000001.11:200666498:G:A p.(Ala81Val) NC_000001.11:200666498:G:A Identity +NM_001926.4:c.151G>A NP_001917.1:p.Val51Ile NC_000008.11:6925884:C:T p.(Val51Ile) NC_000008.11:6925884:C:T p.(Val51Ile) NC_000008.11:6925884:C:T Identity +NM_001257144.2:c.2068C>T NP_001244073.1:p.Arg690Cys NC_000012.12:31101847:C:T p.(Arg690Cys) NC_000012.12:31101847:C:T p.(Arg690Cys) NC_000012.12:31101847:C:T Identity +NM_004398.4:c.1933G>C NP_004389.2:p.Gly645Arg NC_000011.10:108723429:G:C p.(Gly645Arg) NC_000011.10:108723429:G:C p.(Gly645Arg) NC_000011.10:108723429:G:C Identity +NM_001257144.2:c.658G>A NP_001244073.1:p.Asp220Asn NC_000012.12:31087956:G:A p.(Asp220Asn) NC_000012.12:31087956:G:A p.(Asp220Asn) NC_000012.12:31087956:G:A Identity +NM_001348187.2:c.2321A>C NP_001335116.2:p.Gln774Pro NC_000020.11:49243651:A:C p.(Gln774Pro) NC_000020.11:49243651:A:C p.(Gln774Pro) NC_000020.11:49243651:A:C Identity +NM_018665.3:c.167G>A NP_061135.2:p.Arg56Lys NC_000006.12:73395071:G:A p.(Arg56Lys) NC_000006.12:73395071:G:A p.(Arg56Lys) NC_000006.12:73395071:G:A Identity +NM_020664.4:c.778G>A NP_065715.1:p.Val260Met NC_000016.10:411476:G:A p.(Val260Met) NC_000016.10:411476:G:A p.(Val260Met) NC_000016.10:411476:G:A Identity +NM_001318052.2:c.1265C>T NP_001304981.1:p.Ala422Val NC_000007.14:140573988:G:A p.(Ala422Val) NC_000007.14:140573988:G:A p.(Ala422Val) NC_000007.14:140573988:G:A Identity +NM_001318052.2:c.2431T>A NP_001304981.1:p.Cys811Ser NC_000007.14:140527391:A:T p.(Cys811Ser) NC_000007.14:140527391:A:T p.(Cys811Ser) NC_000007.14:140527391:A:T Identity +NM_001376495.1:c.137C>T NP_001363424.1:p.Pro46Leu NC_000011.10:8731152:G:A p.(Pro46Leu) NC_000011.10:8731152:G:A p.(Pro46Leu) NC_000011.10:8731152:G:A Identity +NM_182699.4:c.287T>C NP_874358.2:p.Phe96Ser NC_000023.11:23000343:T:C p.(Phe96Ser) NC_000023.11:23000343:T:C p.(Phe96Ser) NC_000023.11:23000343:T:C Identity +NM_182699.4:c.998G>A NP_874358.2:p.Arg333Lys NC_000023.11:23001054:G:A p.(Arg333Lys) NC_000023.11:23001054:G:A p.(Arg333Lys) NC_000023.11:23001054:G:A Identity +NM_020664.4:c.589G>A NP_065715.1:p.Gly197Ser NC_000016.10:411003:G:A p.(Gly197Ser) NC_000016.10:411003:G:A p.(Gly197Ser) NC_000016.10:411003:G:A Identity +NM_001410861.1:c.202G>T NP_001397790.1:p.Val68Phe NC_000004.12:168308067:C:A p.(Val68Phe) NC_000004.12:168308067:C:A p.(Val68Phe) NC_000004.12:168308067:C:A Identity +NM_001410861.1:c.2684G>A NP_001397790.1:p.Gly895Asp NC_000004.12:168268955:C:T p.(Gly895Asp) NC_000004.12:168268955:C:T p.(Gly895Asp) NC_000004.12:168268955:C:T Identity +NM_020664.4:c.508C>T NP_065715.1:p.Arg170Trp NC_000016.10:410735:C:T p.(Arg170Trp) NC_000016.10:410735:C:T p.(Arg170Trp) NC_000016.10:410735:C:T Identity +NM_001270614.2:c.125T>A NP_001257543.1:p.Leu42Gln NC_000019.10:42216882:A:T p.(Leu42Gln) NC_000019.10:42216882:A:T p.(Leu42Gln) NC_000019.10:42216882:A:T Identity +NM_001352964.2:c.2213G>A NP_001339893.1:p.Arg738Gln NC_000009.12:123382431:C:T p.(Arg738Gln) NC_000009.12:123382431:C:T p.(Arg738Gln) NC_000009.12:123382431:C:T Identity +NM_001376495.1:c.1719C>A NP_001363424.1:p.His573Gln NC_000011.10:8715728:G:T p.(His573Gln) NC_000011.10:8715728:G:T p.(His573Gln) NC_000011.10:8715728:G:T Identity +NM_015657.4:c.539T>G NP_056472.2:p.Val180Gly NC_000002.12:215019590:A:C p.(Val180Gly) NC_000002.12:215019590:A:C p.(Val180Gly) NC_000002.12:215019590:A:C Identity +NM_001318052.2:c.1420G>A NP_001304981.1:p.Gly474Ser NC_000007.14:140573833:C:T p.(Gly474Ser) NC_000007.14:140573833:C:T p.(Gly474Ser) NC_000007.14:140573833:C:T Identity +NM_001318052.2:c.2422G>A NP_001304981.1:p.Asp808Asn NC_000007.14:140527400:C:T p.(Asp808Asn) NC_000007.14:140527400:C:T p.(Asp808Asn) NC_000007.14:140527400:C:T Identity +NM_001195215.2:c.61T>A NP_001182144.1:p.Cys21Ser NC_000001.11:197772888:A:T p.(Cys21Ser) NC_000001.11:197772888:A:T p.(Cys21Ser) NC_000001.11:197772888:A:T Identity +NM_001290331.2:c.329C>T NP_001277260.1:p.Thr110Met NC_000019.10:6477269:G:A p.(Thr110Met) NC_000019.10:6477269:G:A p.(Thr110Met) NC_000019.10:6477269:G:A Identity +NM_001376495.1:c.422C>T NP_001363424.1:p.Pro141Leu NC_000011.10:8730867:G:A p.(Pro141Leu) NC_000011.10:8730867:G:A p.(Pro141Leu) NC_000011.10:8730867:G:A Identity +NM_001114120.3:c.2141C>T NP_001107592.1:p.Ala714Val NC_000001.11:68477943:G:A p.(Ala714Val) NC_000001.11:68477943:G:A p.(Ala714Val) NC_000001.11:68477943:G:A Identity +NM_001300779.2:c.86C>T NP_001287708.1:p.Ala29Val NC_000012.12:15956989:C:T p.(Ala29Val) NC_000012.12:15956989:C:T p.(Ala29Val) NC_000012.12:15956989:C:T Identity +NM_198512.3:c.533A>G NP_940914.1:p.Asn178Ser NC_000023.11:70201949:A:G p.(Asn178Ser) NC_000023.11:70201949:A:G p.(Asn178Ser) NC_000023.11:70201949:A:G Identity +NM_001377259.1:c.1144G>A NP_001364188.1:p.Val382Met NC_000002.12:233448303:G:A p.(Val382Met) NC_000002.12:233448303:G:A p.(Val382Met) NC_000002.12:233448303:G:A Identity +NM_001013742.4:c.83C>T NP_001013764.1:p.Pro28Leu NC_000023.11:50470595:G:A p.(Pro28Leu) NC_000023.11:50470595:G:A p.(Pro28Leu) NC_000023.11:50470595:G:A Identity +NM_001347.4:c.1231G>T NP_001338.2:p.Ala411Ser NC_000004.12:967043:C:A p.(Ala411Ser) NC_000004.12:967043:C:A p.(Ala411Ser) NC_000004.12:967043:C:A Identity +NM_001308339.2:c.2227G>A NP_001295268.1:p.Ala743Thr NC_000012.12:31426408:C:T p.(Ala743Thr) NC_000012.12:31426408:C:T p.(Ala743Thr) NC_000012.12:31426408:C:T Identity +NM_001001794.4:c.649C>T NP_001001794.3:p.Pro217Ser NC_000022.11:50316077:G:A p.(Pro217Ser) NC_000022.11:50316077:G:A p.(Pro217Ser) NC_000022.11:50316077:G:A Identity +NM_001352890.3:c.2336C>T NP_001339819.2:p.Thr779Met NC_000008.11:141175259:C:T p.(Thr779Met) NC_000008.11:141175259:C:T p.(Thr779Met) NC_000008.11:141175259:C:T Identity +NM_001001794.4:c.929C>G NP_001001794.3:p.Thr310Ser NC_000022.11:50314652:G:C p.(Thr310Ser) NC_000022.11:50314652:G:C p.(Thr310Ser) NC_000022.11:50314652:G:C Identity +NM_001114120.3:c.726C>A NP_001107592.1:p.Asp242Glu NC_000001.11:68486979:G:T p.(Asp242Glu) NC_000001.11:68486979:G:T p.(Asp242Glu) NC_000001.11:68486979:G:T Identity +NM_001145208.2:c.1202C>A NP_001138680.1:p.Thr401Asn NC_000005.10:60603430:G:T p.(Thr401Asn) NC_000005.10:60603430:G:T p.(Thr401Asn) NC_000005.10:60603430:G:T Identity +NM_001283012.2:c.35G>A NP_001269941.1:p.Ser12Asn NC_000008.11:119873880:G:A p.(Ser12Asn) NC_000008.11:119873880:G:A p.(Ser12Asn) NC_000008.11:119873880:G:A Identity +NM_198512.3:c.191G>C NP_940914.1:p.Ser64Thr NC_000023.11:70199375:G:C p.(Ser64Thr) NC_000023.11:70199375:G:C p.(Ser64Thr) NC_000023.11:70199375:G:C Identity +NM_003647.3:c.784C>G NP_003638.1:p.Gln262Glu NC_000017.11:56847960:C:G p.(Gln262Glu) NC_000017.11:56847960:C:G p.(Gln262Glu) NC_000017.11:56847960:C:G Identity +NM_001204504.3:c.138G>C NP_001191433.1:p.Glu46Asp NC_000013.11:42048910:G:C p.(Glu46Asp) NC_000013.11:42048910:G:C p.(Glu46Asp) NC_000013.11:42048910:G:C Identity +NM_001282987.2:c.94A>G NP_001269916.1:p.Asn32Asp NC_000014.9:23953881:A:G p.(Asn32Asp) NC_000014.9:23953881:A:G p.(Asn32Asp) NC_000014.9:23953881:A:G Identity +NM_001193635.1:c.433G>A NP_001180564.1:p.Val145Met NC_000014.9:24001470:G:A p.(Val145Met) NC_000014.9:24001470:G:A p.(Val145Met) NC_000014.9:24001470:G:A Identity +NM_001300779.2:c.124T>A NP_001287708.1:p.Trp42Arg NC_000012.12:15957027:T:A p.(Trp42Arg) NC_000012.12:15957027:T:A p.(Trp42Arg) NC_000012.12:15957027:T:A Identity +NM_005675.6:c.323G>A NP_005666.2:p.Arg108Gln NC_000022.11:18910222:G:A p.(Arg108Gln) NC_000022.11:18910222:G:A p.(Arg108Gln) NC_000022.11:18910222:G:A Identity +NM_033257.4:c.553A>C NP_150282.2:p.Lys185Gln NC_000022.11:20314784:T:G p.(Lys185Gln) NC_000022.11:20314784:T:G p.(Lys185Gln) NC_000022.11:20314784:T:G Identity +NM_001377259.1:c.134A>G NP_001364188.1:p.Asn45Ser NC_000002.12:233434847:A:G p.(Asn45Ser) NC_000002.12:233434847:A:G p.(Asn45Ser) NC_000002.12:233434847:A:G Identity +NM_001347.4:c.2671G>A NP_001338.2:p.Gly891Arg NC_000004.12:961104:C:T p.(Gly891Arg) NC_000004.12:961104:C:T p.(Gly891Arg) NC_000004.12:961104:C:T Identity +NM_001102366.3:c.1796A>G NP_001095836.1:p.Asn599Ser NC_000014.9:91224777:A:G p.(Asn599Ser) NC_000014.9:91224777:A:G p.(Asn599Ser) NC_000014.9:91224777:A:G Identity +NM_001297746.2:c.424G>A NP_001284675.1:p.Ala142Thr NC_000001.11:244705726:G:A p.(Ala142Thr) NC_000001.11:244705726:G:A p.(Ala142Thr) NC_000001.11:244705726:G:A Identity +NM_001173533.2:c.398G>A NP_001167004.1:p.Arg133Gln NC_000022.11:19064874:C:T p.(Arg133Gln) NC_000022.11:19064874:C:T p.(Arg133Gln) NC_000022.11:19064874:C:T Identity +NM_001350705.1:c.176A>G NP_001337634.1:p.Asp59Gly NC_000007.14:14736186:T:C p.(Asp59Gly) NC_000007.14:14736186:T:C p.(Asp59Gly) NC_000007.14:14736186:T:C Identity +NM_001321708.2:c.3109G>A NP_001308637.1:p.Ala1037Thr NC_000007.14:137391284:C:T p.(Ala1037Thr) NC_000007.14:137391284:C:T p.(Ala1037Thr) NC_000007.14:137391284:C:T Identity +NM_005794.4:c.840C>G NP_005785.1:p.Leu280= NC_000014.9:23645249:C:G p.(Leu280=) NC_000014.9:23645249:C:G p.(Leu280=) NC_000014.9:23645249:C:G Identity +NM_001329963.1:c.3707A>G NP_001316892.1:p.His1236Arg NC_000002.12:38802718:T:C p.(His1236Arg) NC_000002.12:38802718:T:C p.(His1236Arg) NC_000002.12:38802718:T:C Identity +NM_001115.3:c.3181T>C NP_001106.1:p.Cys1061Arg NC_000008.11:130783777:A:G p.(Cys1061Arg) NC_000008.11:130783777:A:G p.(Cys1061Arg) NC_000008.11:130783777:A:G Identity +NM_001348076.2:c.462G>A NP_001335005.1:p.Met154Ile NC_000005.10:62394591:C:T p.(Met154Ile) NC_000005.10:62394591:C:T p.(Met154Ile) NC_000005.10:62394591:C:T Identity +NM_001390830.1:c.935T>C NP_001377759.1:p.Val312Ala NC_000012.12:48778186:A:G p.(Val312Ala) NC_000012.12:48778186:A:G p.(Val312Ala) NC_000012.12:48778186:A:G Identity +NM_001345964.2:c.1378C>G NP_001332893.1:p.Pro460Ala NC_000005.10:55283789:G:C p.(Pro460Ala) NC_000005.10:55283789:G:C p.(Pro460Ala) NC_000005.10:55283789:G:C Identity +NM_001199699.2:c.686G>A NP_001186628.1:p.Arg229His NC_000017.11:5453922:C:T p.(Arg229His) NC_000017.11:5453922:C:T p.(Arg229His) NC_000017.11:5453922:C:T Identity +NM_014681.6:c.1288C>T NP_055496.2:p.Pro430Ser NC_000019.10:47359982:C:T p.(Pro430Ser) NC_000019.10:47359982:C:T p.(Pro430Ser) NC_000019.10:47359982:C:T Identity +NM_198963.3:c.278A>C NP_945314.1:p.Lys93Thr NC_000002.12:38863465:T:G p.(Lys93Thr) NC_000002.12:38863465:T:G p.(Lys93Thr) NC_000002.12:38863465:T:G Identity +NM_014974.3:c.3788G>C NP_055789.1:p.Cys1263Ser NC_000010.11:327141:C:G p.(Cys1263Ser) NC_000010.11:327141:C:G p.(Cys1263Ser) NC_000010.11:327141:C:G Identity +NM_001350630.2:c.3623A>C NP_001337559.1:p.Asn1208Thr NC_000001.11:223005748:A:C p.(Asn1208Thr) NC_000001.11:223005748:A:C p.(Asn1208Thr) NC_000001.11:223005748:A:C Identity +NM_001348081.2:c.1168G>A NP_001335010.1:p.Val390Ile NC_000008.11:13401474:C:T p.(Val390Ile) NC_000008.11:13401474:C:T p.(Val390Ile) NC_000008.11:13401474:C:T Identity +NM_001357.5:c.3686A>G NP_001348.2:p.Asn1229Ser NC_000001.11:182887306:A:G p.(Asn1229Ser) NC_000001.11:182887306:A:G p.(Asn1229Ser) NC_000001.11:182887306:A:G Identity +NM_006729.5:c.1898A>G NP_006720.1:p.Lys633Arg NC_000023.11:96958110:A:G p.(Lys633Arg) NC_000023.11:96958110:A:G p.(Lys633Arg) NC_000023.11:96958110:A:G Identity +NM_014681.6:c.904C>T NP_055496.2:p.Arg302Trp NC_000019.10:47355236:C:T p.(Arg302Trp) NC_000019.10:47355236:C:T p.(Arg302Trp) NC_000019.10:47355236:C:T Identity +NM_014003.4:c.68G>C NP_054722.2:p.Gly23Ala NC_000016.10:72096224:G:C p.(Gly23Ala) NC_000016.10:72096224:G:C p.(Gly23Ala) NC_000016.10:72096224:G:C Identity +NM_001116.4:c.1624C>T NP_001107.2:p.Arg542Trp NC_000016.10:4113818:G:A p.(Arg542Trp) NC_000016.10:4113818:G:A p.(Arg542Trp) NC_000016.10:4113818:G:A Identity +NM_012242.4:c.411A>G NP_036374.1:p.Ile137Met NC_000010.11:52316298:A:G p.(Ile137Met) NC_000010.11:52316298:A:G p.(Ile137Met) NC_000010.11:52316298:A:G Identity +NM_001197302.2:c.164C>T NP_001184231.1:p.Ala55Val NC_000019.10:49365856:C:T p.(Ala55Val) NC_000019.10:49365856:C:T p.(Ala55Val) NC_000019.10:49365856:C:T Identity +NM_001098424.1:c.541G>C NP_001091894.1:p.Val181Leu NC_000003.12:197161680:C:G p.(Val181Leu) NC_000003.12:197161680:C:G p.(Val181Leu) NC_000003.12:197161680:C:G Identity +NM_001128827.4:c.916C>G NP_001122299.1:p.Arg306Gly NC_000017.11:7196914:G:C p.(Arg306Gly) NC_000017.11:7196914:G:C p.(Arg306Gly) NC_000017.11:7196914:G:C Identity +NM_001146015.2:c.1758A>T NP_001139487.1:p.Arg586Ser NC_000014.9:55158636:T:A p.(Arg586Ser) NC_000014.9:55158636:T:A p.(Arg586Ser) NC_000014.9:55158636:T:A Identity +NM_001044369.3:c.1133C>T NP_001037834.2:p.Ala378Val NC_000018.10:74436627:G:A p.(Ala378Val) NC_000018.10:74436627:G:A p.(Ala378Val) NC_000018.10:74436627:G:A Identity +NM_001128226.3:c.586A>G NP_001121698.1:p.Ile196Val NC_000013.11:72776070:T:C p.(Ile196Val) NC_000013.11:72776070:T:C p.(Ile196Val) NC_000013.11:72776070:T:C Identity +NM_001099733.2:c.280A>C NP_001093203.1:p.Lys94Gln NC_000018.10:908301:A:C p.(Lys94Gln) NC_000018.10:908301:A:C p.(Lys94Gln) NC_000018.10:908301:A:C Identity +NM_001118.5:c.1294C>T NP_001109.2:p.His432Tyr NC_000007.14:31106570:C:T p.(His432Tyr) NC_000007.14:31106570:C:T p.(His432Tyr) NC_000007.14:31106570:C:T Identity +NM_024694.4:c.1249G>A NP_078970.3:p.Val417Ile NC_000006.12:146685765:G:A p.(Val417Ile) NC_000006.12:146685765:G:A p.(Val417Ile) NC_000006.12:146685765:G:A Identity +NM_005222.4:c.37G>A NP_005213.3:p.Gly13Ser NC_000007.14:97006013:G:A p.(Gly13Ser) NC_000007.14:97006013:G:A p.(Gly13Ser) NC_000007.14:97006013:G:A Identity +NM_001079911.3:c.1064C>T NP_001073380.1:p.Thr355Ile NC_000004.12:87662889:C:T p.(Thr355Ile) NC_000004.12:87662889:C:T p.(Thr355Ile) NC_000004.12:87662889:C:T Identity +NM_004407.4:c.171C>G NP_004398.1:p.Ser57Arg NC_000004.12:87659465:C:G p.(Ser57Arg) NC_000004.12:87659465:C:G p.(Ser57Arg) NC_000004.12:87659465:C:G Identity +NM_004747.4:c.1299G>T NP_004738.3:p.Lys433Asn NC_000010.11:77842018:C:A p.(Lys433Asn) NC_000010.11:77842018:C:A p.(Lys433Asn) NC_000010.11:77842018:C:A Identity +NM_001348081.2:c.827G>A NP_001335010.1:p.Ser276Asn NC_000008.11:13499244:C:T p.(Ser276Asn) NC_000008.11:13499244:C:T p.(Ser276Asn) NC_000008.11:13499244:C:T Identity +NM_001306135.2:c.196G>C NP_001293064.1:p.Glu66Gln NC_000013.11:50843450:C:G p.(Glu66Gln) NC_000013.11:50843450:C:G p.(Glu66Gln) NC_000013.11:50843450:C:G Identity +NM_001185054.2:c.1168G>A NP_001171983.1:p.Glu390Lys NC_000002.12:70678918:C:T p.(Glu390Lys) NC_000002.12:70678918:C:T p.(Glu390Lys) NC_000002.12:70678918:C:T Identity +NM_004747.4:c.1946C>T NP_004738.3:p.Pro649Leu NC_000010.11:77830279:G:A p.(Pro649Leu) NC_000010.11:77830279:G:A p.(Pro649Leu) NC_000010.11:77830279:G:A Identity +NM_001346810.2:c.346G>A NP_001333739.1:p.Ala116Thr NC_000008.11:1548798:G:A p.(Ala116Thr) NC_000008.11:1548798:G:A p.(Ala116Thr) NC_000008.11:1548798:G:A Identity +NM_005222.4:c.430G>C NP_005213.3:p.Asp144His NC_000007.14:97006406:G:C p.(Asp144His) NC_000007.14:97006406:G:C p.(Asp144His) NC_000007.14:97006406:G:C Identity +NM_001003803.3:c.350G>A NP_001003803.2:p.Cys117Tyr NC_000014.9:50323977:G:A p.(Cys117Tyr) NC_000014.9:50323977:G:A p.(Cys117Tyr) NC_000014.9:50323977:G:A Identity +NM_001320644.2:c.2039G>A NP_001307573.1:p.Ser680Asn NC_000010.11:122589198:G:A p.(Ser680Asn) NC_000010.11:122589198:G:A p.(Ser680Asn) NC_000010.11:122589198:G:A Identity +NM_001387775.1:c.1111G>A NP_001374704.1:p.Gly371Arg NC_000001.11:46512470:G:A p.(Gly371Arg) NC_000001.11:46512470:G:A p.(Gly371Arg) NC_000001.11:46512470:G:A Identity +NM_001083909.3:c.1267C>G NP_001077378.1:p.Pro423Ala NC_000010.11:133129094:C:G p.(Pro423Ala) NC_000010.11:133129094:C:G p.(Pro423Ala) NC_000010.11:133129094:C:G Identity +NM_001080449.3:c.1009A>G NP_001073918.2:p.Lys337Glu NC_000010.11:68446343:T:C p.(Lys337Glu) NC_000010.11:68446343:T:C p.(Lys337Glu) NC_000010.11:68446343:T:C Identity +NM_138458.4:c.991C>A NP_612467.1:p.Pro331Thr NC_000002.12:68131320:G:T p.(Pro331Thr) NC_000002.12:68131320:G:T p.(Pro331Thr) NC_000002.12:68131320:G:T Identity +NM_001167867.2:c.702T>A NP_001161339.1:p.Asn234Lys NC_000019.10:41432320:A:T p.(Asn234Lys) NC_000019.10:41432320:A:T p.(Asn234Lys) NC_000019.10:41432320:A:T Identity +NM_001167867.2:c.764G>A NP_001161339.1:p.Arg255Gln NC_000019.10:41432258:C:T p.(Arg255Gln) NC_000019.10:41432258:C:T p.(Arg255Gln) NC_000019.10:41432258:C:T Identity +NM_001290321.3:c.1485T>G NP_001277250.1:p.Ser495Arg NC_000005.10:119133300:T:G p.(Ser495Arg) NC_000005.10:119133300:T:G p.(Ser495Arg) NC_000005.10:119133300:T:G Identity +NM_001080449.3:c.1760T>G NP_001073918.2:p.Val587Gly NC_000010.11:68432396:A:C p.(Val587Gly) NC_000010.11:68432396:A:C p.(Val587Gly) NC_000010.11:68432396:A:C Identity +NM_001290321.3:c.1267G>C NP_001277250.1:p.Glu423Gln NC_000005.10:119129374:G:C p.(Glu423Gln) NC_000005.10:119129374:G:C p.(Glu423Gln) NC_000005.10:119129374:G:C Identity +NM_032777.10:c.2608C>A NP_116166.9:p.Pro870Thr NC_000008.11:37840216:C:A p.(Pro870Thr) NC_000008.11:37840216:C:A p.(Pro870Thr) NC_000008.11:37840216:C:A Identity +NM_001277115.2:c.7286A>G NP_001264044.1:p.Asp2429Gly NC_000007.14:21725829:A:G p.(Asp2429Gly) NC_000007.14:21725829:A:G p.(Asp2429Gly) NC_000007.14:21725829:A:G Identity +NM_018139.3:c.1888A>T NP_060609.2:p.Asn630Tyr NC_000014.9:49628130:T:A p.(Asn630Tyr) NC_000014.9:49628130:T:A p.(Asn630Tyr) NC_000014.9:49628130:T:A Identity +NM_001083900.1:c.1784T>C NP_001077369.1:p.Ile595Thr NC_000012.12:123796806:T:C ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001083900.1:c.6731G>A NP_001077369.1:p.Arg2244Gln NC_000012.12:123865990:G:A ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001367479.1:c.8332A>G NP_001354408.1:p.Asn2778Asp NC_000001.11:225289944:A:G p.(Asn2778Asp) NC_000001.11:225289944:A:G p.(Asn2778Asp) NC_000001.11:225289944:A:G Identity +NM_001083900.1:c.5150G>A NP_001077369.1:p.Arg1717Gln NC_000012.12:123845742:G:A ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001366028.2:c.161A>C NP_001352957.1:p.Asn54Thr NC_000003.12:57542709:T:G p.(Asn54Thr) NC_000003.12:57542709:T:G p.(Asn54Thr) NC_000003.12:57542709:T:G Identity +NM_001083900.1:c.3683C>T NP_001077369.1:p.Ala1228Val NC_000012.12:123820615:C:T ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001083900.1, alt_ac=NM_001083900.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001083900.1 not found +NM_001277115.2:c.6518T>C NP_001264044.1:p.Val2173Ala NC_000007.14:21705508:T:C p.(Val2173Ala) NC_000007.14:21705508:T:C p.(Val2173Ala) NC_000007.14:21705508:T:C Identity +NM_001366028.2:c.1277C>T NP_001352957.1:p.Ala426Val NC_000003.12:57501378:G:A p.(Ala426Val) NC_000003.12:57501378:G:A p.(Ala426Val) NC_000003.12:57501378:G:A Identity +NM_001366028.2:c.5044A>G NP_001352957.1:p.Met1682Val NC_000003.12:57429710:T:C p.(Met1682Val) NC_000003.12:57429710:T:C p.(Met1682Val) NC_000003.12:57429710:T:C Identity +NM_173628.4:c.1420T>A NP_775899.3:p.Cys474Ser NC_000017.11:78567030:A:T p.(Cys474Ser) NC_000017.11:78567030:A:T p.(Cys474Ser) NC_000017.11:78567030:A:T Identity +NM_020877.5:c.3788C>T NP_065928.2:p.Thr1263Met NC_000017.11:7768011:C:T p.(Thr1263Met) NC_000017.11:7768011:C:T p.(Thr1263Met) NC_000017.11:7768011:C:T Identity +NM_001347886.2:c.10480G>A NP_001334815.1:p.Asp3494Asn NC_000016.10:20959386:C:T p.(Asp3494Asn) NC_000016.10:20959386:C:T p.(Asp3494Asn) NC_000016.10:20959386:C:T Identity +NM_173628.4:c.12345G>A NP_775899.3:p.Met4115Ile NC_000017.11:78429180:C:T p.(Met4115Ile) NC_000017.11:78429180:C:T p.(Met4115Ile) NC_000017.11:78429180:C:T Identity +NM_173628.4:c.3980T>A NP_775899.3:p.Met1327Lys NC_000017.11:78514906:A:T p.(Met1327Lys) NC_000017.11:78514906:A:T p.(Met1327Lys) NC_000017.11:78514906:A:T Identity +NM_001367479.1:c.8425G>A NP_001354408.1:p.Gly2809Arg NC_000001.11:225290037:G:A p.(Gly2809Arg) NC_000001.11:225290037:G:A p.(Gly2809Arg) NC_000001.11:225290037:G:A Identity +NM_001347886.2:c.7756G>A NP_001334815.1:p.Val2586Ile NC_000016.10:20979511:C:T p.(Val2586Ile) NC_000016.10:20979511:C:T p.(Val2586Ile) NC_000016.10:20979511:C:T Identity +NM_018897.3:c.11326A>G NP_061720.2:p.Thr3776Ala NC_000002.12:195771766:T:C p.(Thr3776Ala) NC_000002.12:195771766:T:C p.(Thr3776Ala) NC_000002.12:195771766:T:C Identity +NM_001369.3:c.3904C>A NP_001360.1:p.Leu1302Met NC_000005.10:13867922:G:T p.(Leu1302Met) NC_000005.10:13867922:G:T p.(Leu1302Met) NC_000005.10:13867922:G:T Identity +NM_020877.5:c.5261G>A NP_065928.2:p.Cys1754Tyr NC_000017.11:7778089:G:A p.(Cys1754Tyr) NC_000017.11:7778089:G:A p.(Cys1754Tyr) NC_000017.11:7778089:G:A Identity +NM_020877.5:c.5651C>T NP_065928.2:p.Thr1884Ile NC_000017.11:7779351:C:T p.(Thr1884Ile) NC_000017.11:7779351:C:T p.(Thr1884Ile) NC_000017.11:7779351:C:T Identity +NM_001347886.2:c.5653G>A NP_001334815.1:p.Val1885Ile NC_000016.10:21019854:C:T p.(Val1885Ile) NC_000016.10:21019854:C:T p.(Val1885Ile) NC_000016.10:21019854:C:T Identity +NM_001391985.1:c.4354C>T NP_001378914.1:p.Pro1452Ser NC_000008.11:142542596:C:T p.(Pro1452Ser) NC_000008.11:142542596:C:T p.(Pro1452Ser) NC_000008.11:142542596:C:T Identity +NM_018897.3:c.7352A>T NP_061720.2:p.Asp2451Val NC_000002.12:195864302:T:A p.(Asp2451Val) NC_000002.12:195864302:T:A p.(Asp2451Val) NC_000002.12:195864302:T:A Identity +NM_001206927.2:c.12526G>A NP_001193856.1:p.Gly4176Ser NC_000006.12:38973660:G:A p.(Gly4176Ser) NC_000006.12:38973660:G:A p.(Gly4176Ser) NC_000006.12:38973660:G:A Identity +NM_001372.4:c.2749A>G NP_001363.2:p.Thr917Ala NC_000017.11:11669080:A:G p.(Thr917Ala) NC_000017.11:11669080:A:G p.(Thr917Ala) NC_000017.11:11669080:A:G Identity +NM_001372.4:c.9512A>G NP_001363.2:p.Asn3171Ser NC_000017.11:11854006:A:G p.(Asn3171Ser) NC_000017.11:11854006:A:G p.(Asn3171Ser) NC_000017.11:11854006:A:G Identity +NM_001288563.2:c.1211G>C NP_001275492.1:p.Arg404Thr NC_000001.11:85097632:G:C p.(Arg404Thr) NC_000001.11:85097632:G:C p.(Arg404Thr) NC_000001.11:85097632:G:C Identity +NM_001082972.3:c.1547T>G NP_001076441.1:p.Val516Gly NC_000012.12:25119167:A:C p.(Val516Gly) NC_000012.12:25119167:A:C p.(Val516Gly) NC_000012.12:25119167:A:C Identity +NM_001271581.3:c.2050G>A NP_001258510.1:p.Ala684Thr NC_000002.12:182762723:G:A p.(Ala684Thr) NC_000002.12:182762723:G:A p.(Ala684Thr) NC_000002.12:182762723:G:A Identity +NM_001294335.2:c.1369A>T NP_001281264.1:p.Thr457Ser NC_000001.11:31742100:T:A p.(Thr457Ser) NC_000001.11:31742100:T:A p.(Thr457Ser) NC_000001.11:31742100:T:A Identity +NM_001372.4:c.5516A>G NP_001363.2:p.Asn1839Ser NC_000017.11:11705148:A:G p.(Asn1839Ser) NC_000017.11:11705148:A:G p.(Asn1839Ser) NC_000017.11:11705148:A:G Identity +NM_001372.4:c.6523C>T NP_001363.2:p.Pro2175Ser NC_000017.11:11747678:C:T p.(Pro2175Ser) NC_000017.11:11747678:C:T p.(Pro2175Ser) NC_000017.11:11747678:C:T Identity +NM_001294335.2:c.2983G>A NP_001281264.1:p.Val995Met NC_000001.11:31736719:C:T p.(Val995Met) NC_000001.11:31736719:C:T p.(Val995Met) NC_000001.11:31736719:C:T Identity +NM_018897.3:c.8858C>A NP_061720.2:p.Thr2953Asn NC_000002.12:195845088:G:T p.(Thr2953Asn) NC_000002.12:195845088:G:T p.(Thr2953Asn) NC_000002.12:195845088:G:T Identity +NM_001372.4:c.4775A>G NP_001363.2:p.Glu1592Gly NC_000017.11:11694349:A:G p.(Glu1592Gly) NC_000017.11:11694349:A:G p.(Glu1592Gly) NC_000017.11:11694349:A:G Identity +NM_001372.4:c.7948C>A NP_001363.2:p.Pro2650Thr NC_000017.11:11784425:C:A p.(Pro2650Thr) NC_000017.11:11784425:C:A p.(Pro2650Thr) NC_000017.11:11784425:C:A Identity +NM_001394687.1:c.749C>A NP_001381616.1:p.Ala250Glu NC_000012.12:55827909:G:T p.(Ala250Glu) NC_000012.12:55827909:G:T p.(Ala250Glu) NC_000012.12:55827909:G:T Identity +NM_144666.3:c.5951G>A NP_653267.2:p.Arg1984Gln NC_000011.10:6546889:G:A p.(Arg1984Gln) NC_000011.10:6546889:G:A p.(Arg1984Gln) NC_000011.10:6546889:G:A Identity +NM_024763.5:c.1013A>G NP_079039.4:p.Gln338Arg NC_000001.11:66862229:T:C p.(Gln338Arg) NC_000001.11:66862229:T:C p.(Gln338Arg) NC_000001.11:66862229:T:C Identity +NM_145174.2:c.661T>G NP_660157.1:p.Phe221Val NC_000022.11:40861333:A:C p.(Phe221Val) NC_000022.11:40861333:A:C p.(Phe221Val) NC_000022.11:40861333:A:C Identity +NM_145172.5:c.855A>G NP_660155.2:p.Ile285Met NC_000001.11:85090229:A:G p.(Ile285Met) NC_000001.11:85090229:A:G p.(Ile285Met) NC_000001.11:85090229:A:G Identity +NM_001330497.2:c.1729A>G NP_001317426.1:p.Thr577Ala NC_000012.12:131084624:A:G p.(Thr577Ala) NC_000012.12:131084624:A:G p.(Thr577Ala) NC_000012.12:131084624:A:G Identity +NM_001330497.2:c.2593A>G NP_001317426.1:p.Thr865Ala NC_000012.12:131138196:A:G p.(Thr865Ala) NC_000012.12:131138196:A:G p.(Thr865Ala) NC_000012.12:131138196:A:G Identity +NM_013238.3:c.440C>T NP_037370.2:p.Thr147Ile NC_000013.11:43107234:C:T p.(Thr147Ile) NC_000013.11:43107234:C:T p.(Thr147Ile) NC_000013.11:43107234:C:T Identity +NM_001287811.2:c.1369T>C NP_001274740.1:p.Ser457Pro NC_000001.11:15568132:T:C p.(Ser457Pro) NC_000001.11:15568132:T:C p.(Ser457Pro) NC_000001.11:15568132:T:C Identity +NM_001349432.2:c.353G>T NP_001336361.1:p.Gly118Val NC_000008.11:66080395:G:T p.(Gly118Val) NC_000008.11:66080395:G:T p.(Gly118Val) NC_000008.11:66080395:G:T Identity +NM_194249.3:c.668G>A NP_919225.1:p.Arg223Gln NC_000005.10:140671686:C:T p.(Arg223Gln) NC_000005.10:140671686:C:T p.(Arg223Gln) NC_000005.10:140671686:C:T Identity +NM_001012339.3:c.32G>T NP_001012339.2:p.Arg11Leu NC_000005.10:34929850:G:T p.(Arg11Leu) NC_000005.10:34929850:G:T p.(Arg11Leu) NC_000005.10:34929850:G:T Identity +NM_144666.3:c.13777C>G NP_653267.2:p.Leu4593Val NC_000011.10:6571288:C:G p.(Leu4593Val) NC_000011.10:6571288:C:G p.(Leu4593Val) NC_000011.10:6571288:C:G Identity +NM_018163.3:c.358A>G NP_060633.1:p.Ser120Gly NC_000015.10:40776564:T:C p.(Ser120Gly) NC_000015.10:40776564:T:C p.(Ser120Gly) NC_000015.10:40776564:T:C Identity +NM_003462.5:c.526A>G NP_003453.3:p.Met176Val NC_000001.11:37561684:A:G p.(Met176Val) NC_000001.11:37561684:A:G p.(Met176Val) NC_000001.11:37561684:A:G Identity +NM_144666.3:c.10253C>T NP_653267.2:p.Thr3418Met NC_000011.10:6564092:C:T p.(Thr3418Met) NC_000011.10:6564092:C:T p.(Thr3418Met) NC_000011.10:6564092:C:T Identity +NM_001282062.1:c.148G>A NP_001268991.1:p.Gly50Arg NC_000016.10:30010074:C:T p.(Gly50Arg) NC_000016.10:30010074:C:T p.(Gly50Arg) NC_000016.10:30010074:C:T Identity +NM_144666.3:c.9629G>A NP_653267.2:p.Arg3210Gln NC_000011.10:6563090:G:A p.(Arg3210Gln) NC_000011.10:6563090:G:A p.(Arg3210Gln) NC_000011.10:6563090:G:A Identity +NM_144666.3:c.9299A>G NP_653267.2:p.His3100Arg NC_000011.10:6558988:A:G p.(His3100Arg) NC_000011.10:6558988:A:G p.(His3100Arg) NC_000011.10:6558988:A:G Identity +NM_144666.3:c.95A>G NP_653267.2:p.Lys32Arg NC_000011.10:6498309:A:G p.(Lys32Arg) NC_000011.10:6498309:A:G p.(Lys32Arg) NC_000011.10:6498309:A:G Identity +NM_001290263.2:c.3235T>G NP_001277192.1:p.Ser1079Ala NC_000002.12:224819459:A:C p.(Ser1079Ala) NC_000002.12:224819459:A:C p.(Ser1079Ala) NC_000002.12:224819459:A:C Identity +NM_004947.5:c.628C>T NP_004938.1:p.Arg210Trp NC_000003.12:51090265:C:T p.(Arg210Trp) NC_000003.12:51090265:C:T p.(Arg210Trp) NC_000003.12:51090265:C:T Identity +NM_144658.4:c.3052G>A NP_653259.3:p.Asp1018Asn NC_000023.11:118610373:G:A p.(Asp1018Asn) NC_000023.11:118610373:G:A p.(Asp1018Asn) NC_000023.11:118610373:G:A Identity +NM_001025160.3:c.1589G>A NP_001020331.1:p.Arg530His NC_000019.10:14405853:G:A p.(Arg530His) NC_000019.10:14405853:G:A p.(Arg530His) NC_000019.10:14405853:G:A Identity +NM_024940.8:c.1451T>C NP_079216.4:p.Ile484Thr NC_000008.11:25319584:T:C p.(Ile484Thr) NC_000008.11:25319584:T:C p.(Ile484Thr) NC_000008.11:25319584:T:C Identity +NM_024940.8:c.992A>T NP_079216.4:p.Asp331Val NC_000008.11:25304269:A:T p.(Asp331Val) NC_000008.11:25304269:A:T p.(Asp331Val) NC_000008.11:25304269:A:T Identity +NM_152721.6:c.291G>C NP_689934.2:p.Glu97Asp NC_000018.10:69677734:G:C p.(Glu97Asp) NC_000018.10:69677734:G:C p.(Glu97Asp) NC_000018.10:69677734:G:C Identity +NM_001320714.2:c.1673T>G NP_001307643.1:p.Val558Gly NC_000021.9:36230456:T:G p.(Val558Gly) NC_000021.9:36230456:T:G p.(Val558Gly) NC_000021.9:36230456:T:G Identity +NM_015221.4:c.391C>T NP_056036.1:p.Arg131Trp NC_000010.11:99957082:G:A p.(Arg131Trp) NC_000010.11:99957082:G:A p.(Arg131Trp) NC_000010.11:99957082:G:A Identity +NM_001320714.2:c.6770A>G NP_001307643.1:p.Gln2257Arg NC_000021.9:36293443:A:G p.(Gln2257Arg) NC_000021.9:36293443:A:G p.(Gln2257Arg) NC_000021.9:36293443:A:G Identity +NM_001320714.2:c.6858A>T NP_001307643.1:p.Glu2286Asp NC_000021.9:36293531:A:T p.(Glu2286Asp) NC_000021.9:36293531:A:T p.(Glu2286Asp) NC_000021.9:36293531:A:T Identity +NM_001411141.1:c.2002G>A NP_001398070.1:p.Ala668Thr NC_000019.10:2216358:G:A p.(Ala668Thr) NC_000019.10:2216358:G:A p.(Ala668Thr) NC_000019.10:2216358:G:A Identity +NM_001330556.2:c.706C>T NP_001317485.1:p.Arg236Trp NC_000016.10:57473932:G:A p.(Arg236Trp) NC_000016.10:57473932:G:A p.(Arg236Trp) NC_000016.10:57473932:G:A Identity +NM_152721.6:c.799G>A NP_689934.2:p.Ala267Thr NC_000018.10:69757815:G:A p.(Ala267Thr) NC_000018.10:69757815:G:A p.(Ala267Thr) NC_000018.10:69757815:G:A Identity +NM_001320714.2:c.6413T>C NP_001307643.1:p.Val2138Ala NC_000021.9:36289103:T:C p.(Val2138Ala) NC_000021.9:36289103:T:C p.(Val2138Ala) NC_000021.9:36289103:T:C Identity +NM_001411141.1:c.3896C>T NP_001398070.1:p.Ser1299Phe NC_000019.10:2226416:C:T p.(Ser1299Phe) NC_000019.10:2226416:C:T p.(Ser1299Phe) NC_000019.10:2226416:C:T Identity +NM_001280542.3:c.677A>T NP_001267471.1:p.Glu226Val NC_000014.9:72693140:T:A p.(Glu226Val) NC_000014.9:72693140:T:A p.(Glu226Val) NC_000014.9:72693140:T:A Identity +NM_001256670.2:c.256G>A NP_001243599.1:p.Glu86Lys NC_000011.10:66482455:G:A p.(Glu86Lys) NC_000011.10:66482455:G:A p.(Glu86Lys) NC_000011.10:66482455:G:A Identity +NM_001366673.1:c.1159T>G NP_001353602.1:p.Ser387Ala NC_000007.14:34958003:A:C p.(Ser387Ala) NC_000007.14:34958003:A:C p.(Ser387Ala) NC_000007.14:34958003:A:C Identity +NM_004947.5:c.1318G>A NP_004938.1:p.Val440Ile NC_000003.12:51225713:G:A p.(Val440Ile) NC_000003.12:51225713:G:A p.(Val440Ile) NC_000003.12:51225713:G:A Identity +NM_173812.5:c.1768A>T NP_776173.3:p.Ile590Phe NC_000012.12:63580793:T:A p.(Ile590Phe) NC_000012.12:63580793:T:A p.(Ile590Phe) NC_000012.12:63580793:T:A Identity +NM_001346574.1:c.370G>A NP_001333503.1:p.Ala124Thr NC_000017.11:2036045:G:A p.(Ala124Thr) NC_000017.11:2036045:G:A p.(Ala124Thr) NC_000017.11:2036045:G:A Identity +NM_001320875.2:c.1672G>A NP_001307804.1:p.Val558Ile NC_000015.10:65467135:C:T p.(Val558Ile) NC_000015.10:65467135:C:T p.(Val558Ile) NC_000015.10:65467135:C:T Identity +NM_006426.3:c.1486C>T NP_006417.2:p.Arg496Cys NC_000010.11:132203785:C:T p.(Arg496Cys) NC_000010.11:132203785:C:T p.(Arg496Cys) NC_000010.11:132203785:C:T Identity +NM_145038.5:c.785G>T NP_659475.2:p.Arg262Leu NC_000002.12:26431902:G:T p.(Arg262Leu) NC_000002.12:26431902:G:T p.(Arg262Leu) NC_000002.12:26431902:G:T Identity +NM_001330144.2:c.754T>C NP_001317073.1:p.Ser252Pro NC_000017.11:18101944:T:C p.(Ser252Pro) NC_000017.11:18101944:T:C p.(Ser252Pro) NC_000017.11:18101944:T:C Identity +NM_001289162.2:c.1754T>C NP_001276091.1:p.Ile585Thr NC_000016.10:57724830:T:C p.(Ile585Thr) NC_000016.10:57724830:T:C p.(Ile585Thr) NC_000016.10:57724830:T:C Identity +NM_000797.4:c.928T>C NP_000788.2:p.Cys310Arg NC_000011.10:640176:T:C p.(Cys310Arg) NC_000011.10:640176:T:C p.(Cys310Arg) NC_000011.10:640176:T:C Identity +NM_000798.5:c.760G>A NP_000789.1:p.Val254Met NC_000004.12:9782788:G:A p.(Val254Met) NC_000004.12:9782788:G:A p.(Val254Met) NC_000004.12:9782788:G:A Identity +NM_001100412.2:c.284C>A NP_001093882.1:p.Pro95His NC_000005.10:31526648:G:T p.(Pro95His) NC_000005.10:31526648:G:T p.(Pro95His) NC_000005.10:31526648:G:T Identity +NM_001289162.2:c.1601G>A NP_001276091.1:p.Arg534His NC_000016.10:57724677:G:A p.(Arg534His) NC_000016.10:57724677:G:A p.(Arg534His) NC_000016.10:57724677:G:A Identity +NM_001351395.2:c.340G>A NP_001338324.1:p.Val114Met NC_000002.12:25451549:C:T p.(Val114Met) NC_000002.12:25451549:C:T p.(Val114Met) NC_000002.12:25451549:C:T Identity +NM_001308081.2:c.448C>T NP_001295010.1:p.Pro150Ser NC_000005.10:118848169:G:A p.(Pro150Ser) NC_000005.10:118848169:G:A p.(Pro150Ser) NC_000005.10:118848169:G:A Identity +NM_001164673.2:c.86C>A NP_001158145.1:p.Pro29Gln NC_000004.12:3463536:C:A p.(Pro29Gln) NC_000004.12:3463536:C:A p.(Pro29Gln) NC_000004.12:3463536:C:A Identity +NM_001199942.2:c.3167T>C NP_001186871.1:p.Ile1056Thr NC_000006.12:83137235:T:C p.(Ile1056Thr) NC_000006.12:83137235:T:C p.(Ile1056Thr) NC_000006.12:83137235:T:C Identity +NM_001199942.2:c.458C>G NP_001186871.1:p.Pro153Arg NC_000006.12:83109046:C:G p.(Pro153Arg) NC_000006.12:83109046:C:G p.(Pro153Arg) NC_000006.12:83109046:C:G Identity +NM_001199942.2:c.788G>A NP_001186871.1:p.Arg263Gln NC_000006.12:83118894:G:A p.(Arg263Gln) NC_000006.12:83118894:G:A p.(Arg263Gln) NC_000006.12:83118894:G:A Identity +NM_001320714.2:c.361G>T NP_001307643.1:p.Val121Leu NC_000021.9:36200370:G:T p.(Val121Leu) NC_000021.9:36200370:G:T p.(Val121Leu) NC_000021.9:36200370:G:T Identity +NM_001320714.2:c.4261G>A NP_001307643.1:p.Glu1421Lys NC_000021.9:36246240:G:A p.(Glu1421Lys) NC_000021.9:36246240:G:A p.(Glu1421Lys) NC_000021.9:36246240:G:A Identity +NM_020693.4:c.5941G>A NP_065744.3:p.Ala1981Thr NC_000011.10:117428548:C:T p.(Ala1981Thr) NC_000011.10:117428548:C:T p.(Ala1981Thr) NC_000011.10:117428548:C:T Identity +NM_032160.3:c.1186C>G NP_115536.2:p.Leu396Val NC_000018.10:67513422:G:C p.(Leu396Val) NC_000018.10:67513422:G:C p.(Leu396Val) NC_000018.10:67513422:G:C Identity +NM_001004360.5:c.564T>G NP_001004360.3:p.Ile188Met NC_000002.12:115727823:T:G p.(Ile188Met) NC_000002.12:115727823:T:G p.(Ile188Met) NC_000002.12:115727823:T:G Identity +NM_001256670.2:c.586C>G NP_001243599.1:p.Leu196Val NC_000011.10:66491260:C:G p.(Leu196Val) NC_000011.10:66491260:C:G p.(Leu196Val) NC_000011.10:66491260:C:G Identity +NM_170776.5:c.161G>T NP_740746.4:p.Cys54Phe NC_000016.10:57673422:G:T p.(Cys54Phe) NC_000016.10:57673422:G:T p.(Cys54Phe) NC_000016.10:57673422:G:T Identity +NM_001161619.2:c.259G>T NP_001155091.1:p.Ala87Ser NC_000019.10:5788133:C:A p.(Ala87Ser) NC_000019.10:5788133:C:A p.(Ala87Ser) NC_000019.10:5788133:C:A Identity +NM_001363711.2:c.3575G>T NP_001350640.1:p.Gly1192Val NC_000015.10:45097731:C:A p.(Gly1192Val) NC_000015.10:45097731:C:A p.(Gly1192Val) NC_000015.10:45097731:C:A Identity +NM_001271762.2:c.1352G>A NP_001258691.1:p.Arg451Gln NC_000016.10:68078855:G:A p.(Arg451Gln) NC_000016.10:68078855:G:A p.(Arg451Gln) NC_000016.10:68078855:G:A Identity +NM_001320478.1:c.94A>T NP_001307407.1:p.Ile32Phe NC_000020.11:31867105:T:A p.(Ile32Phe) NC_000020.11:31867105:T:A p.(Ile32Phe) NC_000020.11:31867105:T:A Identity +NM_001318503.2:c.53C>T NP_001305432.1:p.Pro18Leu NC_000023.11:153648005:C:T p.(Pro18Leu) NC_000023.11:153648005:C:T p.(Pro18Leu) NC_000023.11:153648005:C:T Identity +NM_153834.4:c.8144T>C NP_722576.3:p.Ile2715Thr NC_000023.11:136395452:T:C p.(Ile2715Thr) NC_000023.11:136395452:T:C p.(Ile2715Thr) NC_000023.11:136395452:T:C Identity +NM_004420.3:c.1259C>G NP_004411.2:p.Pro420Arg NC_000011.10:1557136:G:C p.(Pro420Arg) NC_000011.10:1557136:G:C p.(Pro420Arg) NC_000011.10:1557136:G:C Identity +NM_001329135.2:c.1139A>G NP_001316064.1:p.His380Arg NC_000003.12:32526883:T:C p.(His380Arg) NC_000003.12:32526883:T:C p.(His380Arg) NC_000003.12:32526883:T:C Identity +NM_052844.4:c.14C>T NP_443076.2:p.Ala5Val NC_000009.12:128656712:G:A p.(Ala5Val) NC_000009.12:128656712:G:A p.(Ala5Val) NC_000009.12:128656712:G:A Identity +NM_001304376.3:c.143A>G NP_001291305.1:p.Gln48Arg NC_000016.10:57563092:A:G p.(Gln48Arg) NC_000016.10:57563092:A:G p.(Gln48Arg) NC_000016.10:57563092:A:G Identity +NM_005225.3:c.231T>G NP_005216.1:p.Ser77Arg NC_000020.11:33686033:A:C p.(Ser77Arg) NC_000020.11:33686033:A:C p.(Ser77Arg) NC_000020.11:33686033:A:C Identity +NM_001013632.4:c.519T>A NP_001013654.1:p.Ser173Arg NC_000001.11:44806149:A:T p.(Ser173Arg) NC_000001.11:44806149:A:T p.(Ser173Arg) NC_000001.11:44806149:A:T Identity +NM_001130455.2:c.5401C>T NP_001123927.1:p.Pro1801Ser NC_000002.12:71668810:C:T p.(Pro1801Ser) NC_000002.12:71668810:C:T p.(Pro1801Ser) NC_000002.12:71668810:C:T Identity +NM_174910.3:c.250G>T NP_777570.1:p.Ala84Ser NC_000006.12:169744144:C:A p.(Ala84Ser) NC_000006.12:169744144:C:A p.(Ala84Ser) NC_000006.12:169744144:C:A Identity +NM_001013632.4:c.118C>A NP_001013654.1:p.Pro40Thr NC_000001.11:44806550:G:T p.(Pro40Thr) NC_000001.11:44806550:G:T p.(Pro40Thr) NC_000001.11:44806550:G:T Identity +NM_001308362.1:c.1347G>T NP_001295291.1:p.Arg449Ser NC_000003.12:100694838:G:T p.(Arg449Ser) NC_000003.12:100694838:G:T p.(Arg449Ser) NC_000003.12:100694838:G:T Identity +NM_001166010.2:c.535C>A NP_001159482.1:p.Pro179Thr NC_000006.12:4126183:G:T p.(Pro179Thr) NC_000006.12:4126183:G:T p.(Pro179Thr) NC_000006.12:4126183:G:T Identity +NM_001308362.1:c.1373C>T NP_001295291.1:p.Pro458Leu NC_000003.12:100694864:C:T p.(Pro458Leu) NC_000003.12:100694864:C:T p.(Pro458Leu) NC_000003.12:100694864:C:T Identity +NM_001202858.2:c.1036C>T NP_001189787.1:p.Arg346Cys NC_000001.11:150511702:C:T p.(Arg346Cys) NC_000001.11:150511702:C:T p.(Arg346Cys) NC_000001.11:150511702:C:T Identity +NM_001202858.2:c.1048C>T NP_001189787.1:p.Arg350Cys NC_000001.11:150511714:C:T p.(Arg350Cys) NC_000001.11:150511714:C:T p.(Arg350Cys) NC_000001.11:150511714:C:T Identity +NM_022659.4:c.1282A>C NP_073150.2:p.Asn428His NC_000008.11:25861108:T:G p.(Asn428His) NC_000008.11:25861108:T:G p.(Asn428His) NC_000008.11:25861108:T:G Identity +NM_001199938.2:c.110G>A NP_001186867.1:p.Arg37Lys NC_000010.11:22209873:C:T p.(Arg37Lys) NC_000010.11:22209873:C:T p.(Arg37Lys) NC_000010.11:22209873:C:T Identity +NM_001349881.2:c.163T>G NP_001336810.1:p.Leu55Val NC_000001.11:111126262:A:C p.(Leu55Val) NC_000001.11:111126262:A:C p.(Leu55Val) NC_000001.11:111126262:A:C Identity +NM_198545.4:c.916G>A NP_940947.3:p.Asp306Asn NC_000001.11:11715186:G:A p.(Asp306Asn) NC_000001.11:11715186:G:A p.(Asp306Asn) NC_000001.11:11715186:G:A Identity +NM_000796.6:c.365G>A NP_000787.2:p.Cys122Tyr NC_000003.12:114159772:C:T p.(Cys122Tyr) NC_000003.12:114159772:C:T p.(Cys122Tyr) NC_000003.12:114159772:C:T Identity +NM_000797.4:c.917G>T NP_000788.2:p.Cys306Phe NC_000011.10:640165:G:T p.(Cys306Phe) NC_000011.10:640165:G:T p.(Cys306Phe) NC_000011.10:640165:G:T Identity +NM_004948.3:c.1105G>A NP_004939.1:p.Asp369Asn NC_000018.10:31142153:C:T p.(Asp369Asn) NC_000018.10:31142153:C:T p.(Asp369Asn) NC_000018.10:31142153:C:T Identity +NM_001427345.1:c.1824C>G NP_001414274.1:p.Ile608Met NC_000016.10:67879851:C:G p.(Ile608Met) NC_000016.10:67879851:C:G p.(Ile608Met) NC_000016.10:67879851:C:G Identity +NM_001427345.1:c.4222T>A NP_001414274.1:p.Phe1408Ile NC_000016.10:67884055:T:A p.(Phe1408Ile) NC_000016.10:67884055:T:A p.(Phe1408Ile) NC_000016.10:67884055:T:A Identity +NM_003566.4:c.1155G>T NP_003557.3:p.Glu385Asp NC_000012.12:92832610:C:A p.(Glu385Asp) NC_000012.12:92832610:C:A p.(Glu385Asp) NC_000012.12:92832610:C:A Identity +NM_001142464.3:c.797G>A NP_001135936.1:p.Gly266Glu NC_000019.10:11507561:C:T p.(Gly266Glu) NC_000019.10:11507561:C:T p.(Gly266Glu) NC_000019.10:11507561:C:T Identity +NM_001199687.3:c.823G>C NP_001186616.2:p.Gly275Arg NC_000023.11:66599554:C:G p.(Gly275Arg) NC_000023.11:66599554:C:G p.(Gly275Arg) NC_000023.11:66599554:C:G Identity +NM_001142443.3:c.861T>A NP_001135915.1:p.His287Gln NC_000015.10:74640578:A:T p.(His287Gln) NC_000015.10:74640578:A:T p.(His287Gln) NC_000015.10:74640578:A:T Identity +NM_001008701.3:c.1492C>G NP_001008701.1:p.Leu498Val NC_000019.10:14161344:G:C p.(Leu498Val) NC_000019.10:14161344:G:C p.(Leu498Val) NC_000019.10:14161344:G:C Identity +NM_001278642.1:c.1336A>G NP_001265571.1:p.Ile446Val NC_000005.10:83943495:T:C p.(Ile446Val) NC_000005.10:83943495:T:C p.(Ile446Val) NC_000005.10:83943495:T:C Identity +NM_000115.5:c.203C>G NP_000106.1:p.Pro68Arg NC_000013.11:77918370:G:C p.(Pro68Arg) NC_000013.11:77918370:G:C p.(Pro68Arg) NC_000013.11:77918370:G:C Identity +NM_001142464.3:c.844G>A NP_001135936.1:p.Ala282Thr NC_000019.10:11507514:C:T p.(Ala282Thr) NC_000019.10:11507514:C:T p.(Ala282Thr) NC_000019.10:11507514:C:T Identity +NM_001142443.3:c.224A>G NP_001135915.1:p.His75Arg NC_000015.10:74671714:T:C p.(His75Arg) NC_000015.10:74671714:T:C p.(His75Arg) NC_000015.10:74671714:T:C Identity +NM_001308007.2:c.1054G>T NP_001294936.1:p.Ala352Ser NC_000011.10:86276991:G:T p.(Ala352Ser) NC_000011.10:86276991:G:T p.(Ala352Ser) NC_000011.10:86276991:G:T Identity +NM_001145053.2:c.1957G>A NP_001138525.2:p.Glu653Lys NC_000017.11:30054078:G:A p.(Glu653Lys) NC_000017.11:30054078:G:A p.(Glu653Lys) NC_000017.11:30054078:G:A Identity +NM_001008701.3:c.692G>A NP_001008701.1:p.Arg231His NC_000019.10:14163123:C:T p.(Arg231His) NC_000019.10:14163123:C:T p.(Arg231His) NC_000019.10:14163123:C:T Identity +NM_207307.3:c.173G>A NP_997190.1:p.Arg58Gln NC_000003.12:129421679:C:T p.(Arg58Gln) NC_000003.12:129421679:C:T p.(Arg58Gln) NC_000003.12:129421679:C:T Identity +NM_022785.4:c.2825A>G NP_073622.2:p.Gln942Arg NC_000022.11:43600119:T:C p.(Gln942Arg) NC_000022.11:43600119:T:C p.(Gln942Arg) NC_000022.11:43600119:T:C Identity +NM_022785.4:c.3953G>A NP_073622.2:p.Arg1318Gln NC_000022.11:43537471:C:T p.(Arg1318Gln) NC_000022.11:43537471:C:T p.(Arg1318Gln) NC_000022.11:43537471:C:T Identity +NM_022785.4:c.887C>T NP_073622.2:p.Ser296Leu NC_000022.11:43711618:G:A p.(Ser296Leu) NC_000022.11:43711618:G:A p.(Ser296Leu) NC_000022.11:43711618:G:A Identity +NM_004428.3:c.283C>T NP_004419.2:p.Pro95Ser NC_000001.11:155131528:C:T p.(Pro95Ser) NC_000001.11:155131528:C:T p.(Pro95Ser) NC_000001.11:155131528:C:T Identity +NM_032437.4:c.712A>G NP_115813.2:p.Thr238Ala NC_000001.11:63534123:A:G p.(Thr238Ala) NC_000001.11:63534123:A:G p.(Thr238Ala) NC_000001.11:63534123:A:G Identity +NM_001289413.2:c.758C>T NP_001276342.1:p.Pro253Leu NC_000006.12:31892905:G:A p.(Pro253Leu) NC_000006.12:31892905:G:A p.(Pro253Leu) NC_000006.12:31892905:G:A Identity +NM_001289413.2:c.3415G>A NP_001276342.1:p.Asp1139Asn NC_000006.12:31880778:C:T p.(Asp1139Asn) NC_000006.12:31880778:C:T p.(Asp1139Asn) NC_000006.12:31880778:C:T Identity +NM_003907.3:c.1828T>C NP_003898.2:p.Ser610Pro NC_000003.12:184143523:T:C p.(Ser610Pro) NC_000003.12:184143523:T:C p.(Ser610Pro) NC_000003.12:184143523:T:C Identity +NM_003750.4:c.2780A>G NP_003741.1:p.Asp927Gly NC_000010.11:119042739:T:C p.(Asp927Gly) NC_000010.11:119042739:T:C p.(Asp927Gly) NC_000010.11:119042739:T:C Identity +NM_001267810.1:c.371A>T NP_001254739.1:p.Glu124Val NC_000020.11:35280116:T:A p.(Glu124Val) NC_000020.11:35280116:T:A p.(Glu124Val) NC_000020.11:35280116:T:A Identity +NM_001267048.2:c.1505G>A NP_001253977.2:p.Arg502His NC_000001.11:109192692:G:A p.(Arg502His) NC_000001.11:109192692:G:A p.(Arg502His) NC_000001.11:109192692:G:A Identity +NM_152701.5:c.1088G>A NP_689914.3:p.Ser363Asn NC_000007.14:48240891:G:A p.(Ser363Asn) NC_000007.14:48240891:G:A p.(Ser363Asn) NC_000007.14:48240891:G:A Identity +NM_001134453.3:c.2872G>A NP_001127925.1:p.Val958Ile NC_000018.10:31413286:G:A p.(Val958Ile) NC_000018.10:31413286:G:A p.(Val958Ile) NC_000018.10:31413286:G:A Identity +NM_001420.4:c.854G>A NP_001411.2:p.Cys285Tyr NC_000019.10:11454775:C:T p.(Cys285Tyr) NC_000019.10:11454775:C:T p.(Cys285Tyr) NC_000019.10:11454775:C:T Identity +NM_001145353.1:c.1323G>T NP_001138825.1:p.Lys441Asn NC_000013.11:40933889:C:A p.(Lys441Asn) NC_000013.11:40933889:C:A p.(Lys441Asn) NC_000013.11:40933889:C:A Identity +NM_001128636.4:c.1601C>T NP_001122108.1:p.Pro534Leu NC_000007.14:1746196:C:T p.(Pro534Leu) NC_000007.14:1746196:C:T p.(Pro534Leu) NC_000007.14:1746196:C:T Identity +NM_001568.3:c.35A>C NP_001559.1:p.His12Pro NC_000008.11:108248667:T:G p.(His12Pro) NC_000008.11:108248667:T:G p.(His12Pro) NC_000008.11:108248667:T:G Identity +NM_015904.4:c.2596C>G NP_056988.3:p.Leu866Val NC_000002.12:99390552:C:G p.(Leu866Val) NC_000002.12:99390552:C:G p.(Leu866Val) NC_000002.12:99390552:C:G Identity +NM_001330688.2:c.1552C>T NP_001317617.1:p.Pro518Ser NC_000003.12:19884606:G:A p.(Pro518Ser) NC_000003.12:19884606:G:A p.(Pro518Ser) NC_000003.12:19884606:G:A Identity +NM_001319099.2:c.1747G>A NP_001306028.1:p.Glu583Lys NC_000002.12:25139187:G:A p.(Glu583Lys) NC_000002.12:25139187:G:A p.(Glu583Lys) NC_000002.12:25139187:G:A Identity +NM_001277174.2:c.1144C>A NP_001264103.1:p.Gln382Lys NC_000014.9:23357260:G:T p.(Gln382Lys) NC_000014.9:23357260:G:T p.(Gln382Lys) NC_000014.9:23357260:G:T Identity +NM_001242875.3:c.590G>A NP_001229804.1:p.Cys197Tyr NC_000018.10:36139484:G:A p.(Cys197Tyr) NC_000018.10:36139484:G:A p.(Cys197Tyr) NC_000018.10:36139484:G:A Identity +NM_001142749.3:c.2836A>T NP_001136221.1:p.Thr946Ser NC_000007.14:86892949:T:A p.(Thr946Ser) NC_000007.14:86892949:T:A p.(Thr946Ser) NC_000007.14:86892949:T:A Identity +NM_001171195.2:c.793A>G NP_001164666.1:p.Ile265Val NC_000009.12:23692804:T:C p.(Ile265Val) NC_000009.12:23692804:T:C p.(Ile265Val) NC_000009.12:23692804:T:C Identity +NM_001276458.3:c.311T>C NP_001263387.1:p.Val104Ala NC_000004.12:139067769:A:G p.(Val104Ala) NC_000004.12:139067769:A:G p.(Val104Ala) NC_000004.12:139067769:A:G Identity +NM_001318253.2:c.1328A>G NP_001305182.1:p.Glu443Gly NC_000020.11:46371679:T:C p.(Glu443Gly) NC_000020.11:46371679:T:C p.(Glu443Gly) NC_000020.11:46371679:T:C Identity +NM_153702.4:c.243G>T NP_714913.1:p.Lys81Asn NC_000004.12:140535803:G:T p.(Lys81Asn) NC_000004.12:140535803:G:T p.(Lys81Asn) NC_000004.12:140535803:G:T Identity +NM_153702.4:c.874A>G NP_714913.1:p.Lys292Glu NC_000004.12:140550366:A:G p.(Lys292Glu) NC_000004.12:140550366:A:G p.(Lys292Glu) NC_000004.12:140550366:A:G Identity +NM_052846.2:c.955T>C NP_443078.1:p.Phe319Leu NC_000020.11:41362613:A:G p.(Phe319Leu) NC_000020.11:41362613:A:G p.(Phe319Leu) NC_000020.11:41362613:A:G Identity +NM_006208.3:c.1477C>T NP_006199.2:p.His493Tyr NC_000006.12:131872961:C:T p.(His493Tyr) NC_000006.12:131872961:C:T p.(His493Tyr) NC_000006.12:131872961:C:T Identity +NM_001319043.2:c.299A>G NP_001305972.1:p.Gln100Arg NC_000003.12:150563595:A:G p.(Gln100Arg) NC_000003.12:150563595:A:G p.(Gln100Arg) NC_000003.12:150563595:A:G Identity +NM_003750.4:c.2083A>G NP_003741.1:p.Ile695Val NC_000010.11:119056852:T:C p.(Ile695Val) NC_000010.11:119056852:T:C p.(Ile695Val) NC_000010.11:119056852:T:C Identity +NM_152512.4:c.1067T>G NP_689725.2:p.Phe356Cys NC_000022.11:39765374:A:C p.(Phe356Cys) NC_000022.11:39765374:A:C p.(Phe356Cys) NC_000022.11:39765374:A:C Identity +NM_001248.4:c.419C>T NP_001239.2:p.Ala140Val NC_000003.12:40411943:C:T p.(Ala140Val) NC_000003.12:40411943:C:T p.(Ala140Val) NC_000003.12:40411943:C:T Identity +NM_001387214.1:c.481G>A NP_001374143.1:p.Asp161Asn NC_000015.10:29151747:C:T p.(Asp161Asn) NC_000015.10:29151747:C:T p.(Asp161Asn) NC_000015.10:29151747:C:T Identity +NM_001278689.2:c.1283C>A NP_001265618.1:p.Ala428Asp NC_000003.12:68979718:G:T p.(Ala428Asp) NC_000003.12:68979718:G:T p.(Ala428Asp) NC_000003.12:68979718:G:T Identity +NM_001411099.1:c.74A>G NP_001398028.1:p.Lys25Arg NC_000017.11:80146887:T:C p.(Lys25Arg) NC_000017.11:80146887:T:C p.(Lys25Arg) NC_000017.11:80146887:T:C Identity +NM_001300821.3:c.637C>A NP_001287750.1:p.Pro213Thr NC_000012.12:53022596:C:A p.(Pro213Thr) NC_000012.12:53022596:C:A p.(Pro213Thr) NC_000012.12:53022596:C:A Identity +NM_004096.5:c.161A>T NP_004087.1:p.Tyr54Phe NC_000010.11:70419928:A:T p.(Tyr54Phe) NC_000010.11:70419928:A:T p.(Tyr54Phe) NC_000010.11:70419928:A:T Identity +NM_001042559.3:c.1019C>T NP_001036024.3:p.Ala340Val NC_000011.10:10802412:G:A p.(Ala340Val) NC_000011.10:10802412:G:A p.(Ala340Val) NC_000011.10:10802412:G:A Identity +NM_015409.5:c.3229A>G NP_056224.3:p.Ile1077Val NC_000012.12:132006801:A:G p.(Ile1077Val) NC_000012.12:132006801:A:G p.(Ile1077Val) NC_000012.12:132006801:A:G Identity +NM_015409.5:c.5369A>G NP_056224.3:p.Asp1790Gly NC_000012.12:132028275:A:G p.(Asp1790Gly) NC_000012.12:132028275:A:G p.(Asp1790Gly) NC_000012.12:132028275:A:G Identity +NM_015409.5:c.7994A>G NP_056224.3:p.Gln2665Arg NC_000012.12:132062218:A:G p.(Gln2665Arg) NC_000012.12:132062218:A:G p.(Gln2665Arg) NC_000012.12:132062218:A:G Identity +NM_001258329.1:c.1867A>G NP_001245258.1:p.Thr623Ala NC_000020.11:36209685:A:G p.(Thr623Ala) NC_000020.11:36209685:A:G p.(Thr623Ala) NC_000020.11:36209685:A:G Identity +NM_001199388.3:c.2018G>T NP_001186317.1:p.Ser673Ile NC_000006.12:130869941:C:A p.(Ser673Ile) NC_000006.12:130869941:C:A p.(Ser673Ile) NC_000006.12:130869941:C:A Identity +NM_015177.2:c.233G>C NP_055992.1:p.Arg78Pro NC_000011.10:59181759:G:C p.(Arg78Pro) NC_000011.10:59181759:G:C p.(Arg78Pro) NC_000011.10:59181759:G:C Identity +NM_153834.4:c.3304G>A NP_722576.3:p.Ala1102Thr NC_000023.11:136347009:G:A p.(Ala1102Thr) NC_000023.11:136347009:G:A p.(Ala1102Thr) NC_000023.11:136347009:G:A Identity +NM_001003892.3:c.500A>T NP_001003892.1:p.Asp167Val NC_000010.11:75037998:T:A p.(Asp167Val) NC_000010.11:75037998:T:A p.(Asp167Val) NC_000010.11:75037998:T:A Identity +NM_001385116.1:c.5198T>C NP_001372045.1:p.Met1733Thr NC_000014.9:88620921:A:G p.(Met1733Thr) NC_000014.9:88620921:A:G p.(Met1733Thr) NC_000014.9:88620921:A:G Identity +NM_001039753.4:c.4130G>A NP_001034842.2:p.Arg1377Gln NC_000002.12:54950695:G:A p.(Arg1377Gln) NC_000002.12:54950695:G:A p.(Arg1377Gln) NC_000002.12:54950695:G:A Identity +NM_001427.4:c.269C>G NP_001418.2:p.Ala90Gly NC_000007.14:155458645:C:G p.(Ala90Gly) NC_000007.14:155458645:C:G p.(Ala90Gly) NC_000007.14:155458645:C:G Identity +NM_005232.5:c.2675C>T NP_005223.4:p.Thr892Ile NC_000007.14:143393691:G:A p.(Thr892Ile) NC_000007.14:143393691:G:A p.(Thr892Ile) NC_000007.14:143393691:G:A Identity +NM_001099439.2:c.1331A>G NP_001092909.1:p.Gln444Arg NC_000001.11:37752901:T:C p.(Gln444Arg) NC_000001.11:37752901:T:C p.(Gln444Arg) NC_000001.11:37752901:T:C Identity +NM_004444.5:c.1667T>C NP_004435.3:p.Ile556Thr NC_000007.14:100813942:A:G p.(Ile556Thr) NC_000007.14:100813942:A:G p.(Ile556Thr) NC_000007.14:100813942:A:G Identity +NM_001080463.2:c.538A>T NP_001073932.1:p.Ile180Leu NC_000011.10:103115211:A:T p.(Ile180Leu) NC_000011.10:103115211:A:T p.(Ile180Leu) NC_000011.10:103115211:A:T Identity +NM_001305017.2:c.136G>C NP_001291946.1:p.Val46Leu NC_000016.10:80543320:G:C p.(Val46Leu) NC_000016.10:80543320:G:C p.(Val46Leu) NC_000016.10:80543320:G:C Identity +NM_174910.3:c.137G>C NP_777570.1:p.Arg46Thr NC_000006.12:169744257:C:G p.(Arg46Thr) NC_000006.12:169744257:C:G p.(Arg46Thr) NC_000006.12:169744257:C:G Identity +NM_001281736.2:c.313G>A NP_001268665.1:p.Gly105Ser NC_000023.11:130679688:C:T p.(Gly105Ser) NC_000023.11:130679688:C:T p.(Gly105Ser) NC_000023.11:130679688:C:T Identity +NM_153343.4:c.1162G>A NP_699174.1:p.Val388Ile NC_000004.12:184091337:C:T p.(Val388Ile) NC_000004.12:184091337:C:T p.(Val388Ile) NC_000004.12:184091337:C:T Identity +NM_001040458.3:c.503G>A NP_001035548.1:p.Arg168Lys NC_000005.10:96803423:C:T p.(Arg168Lys) NC_000005.10:96803423:C:T p.(Arg168Lys) NC_000005.10:96803423:C:T Identity +NM_001145353.1:c.1084G>C NP_001138825.1:p.Val362Leu NC_000013.11:40941020:C:G p.(Val362Leu) NC_000013.11:40941020:C:G p.(Val362Leu) NC_000013.11:40941020:C:G Identity +NM_032119.4:c.16441G>A NP_115495.3:p.Ala5481Thr NC_000005.10:90829015:G:A p.(Ala5481Thr) NC_000005.10:90829015:G:A p.(Ala5481Thr) NC_000005.10:90829015:G:A Identity +NM_001128636.4:c.1783G>A NP_001122108.1:p.Glu595Lys NC_000007.14:1746378:G:A p.(Glu595Lys) NC_000007.14:1746378:G:A p.(Glu595Lys) NC_000007.14:1746378:G:A Identity +NM_001128636.4:c.2024C>T NP_001122108.1:p.Pro675Leu NC_000007.14:1746619:C:T p.(Pro675Leu) NC_000007.14:1746619:C:T p.(Pro675Leu) NC_000007.14:1746619:C:T Identity +NM_003198.3:c.1565A>C NP_003189.3:p.Glu522Ala NC_000001.11:23754126:A:C p.(Glu522Ala) NC_000001.11:23754126:A:C p.(Glu522Ala) NC_000001.11:23754126:A:C Identity +NM_016427.3:c.1340A>T NP_057511.2:p.Asp447Val NC_000018.10:47033924:T:A p.(Asp447Val) NC_000018.10:47033924:T:A p.(Asp447Val) NC_000018.10:47033924:T:A Identity +NM_016427.3:c.488C>G NP_057511.2:p.Ala163Gly NC_000018.10:47034776:G:C p.(Ala163Gly) NC_000018.10:47034776:G:C p.(Ala163Gly) NC_000018.10:47034776:G:C Identity +NM_017770.4:c.403T>G NP_060240.3:p.Leu135Val NC_000006.12:10995108:A:C p.(Leu135Val) NC_000006.12:10995108:A:C p.(Leu135Val) NC_000006.12:10995108:A:C Identity +NM_001318360.2:c.1180T>C NP_001305289.1:p.Trp394Arg NC_000009.12:108906423:A:G p.(Trp394Arg) NC_000009.12:108906423:A:G p.(Trp394Arg) NC_000009.12:108906423:A:G Identity +NM_032119.4:c.4483A>G NP_115495.3:p.Ile1495Val NC_000005.10:90658008:A:G p.(Ile1495Val) NC_000005.10:90658008:A:G p.(Ile1495Val) NC_000005.10:90658008:A:G Identity +NM_001267895.2:c.1187T>C NP_001254824.1:p.Ile396Thr NC_000022.11:29254275:T:C p.(Ile396Thr) NC_000022.11:29254275:T:C p.(Ile396Thr) NC_000022.11:29254275:T:C Identity +NM_014648.4:c.3187G>A NP_055463.1:p.Ala1063Thr NC_000003.12:108688012:G:A p.(Ala1063Thr) NC_000003.12:108688012:G:A p.(Ala1063Thr) NC_000003.12:108688012:G:A Identity +NM_001267608.2:c.1835G>T NP_001254537.1:p.Cys612Phe NC_000001.11:155247899:C:A p.(Cys612Phe) NC_000001.11:155247899:C:A p.(Cys612Phe) NC_000001.11:155247899:C:A Identity +NM_001145076.3:c.1998C>G NP_001138548.2:p.Ile666Met NC_000002.12:42325483:C:G p.(Ile666Met) NC_000002.12:42325483:C:G p.(Ile666Met) NC_000002.12:42325483:C:G Identity +NM_001145076.3:c.410T>G NP_001138548.2:p.Leu137Trp NC_000002.12:42263248:T:G p.(Leu137Trp) NC_000002.12:42263248:T:G p.(Leu137Trp) NC_000002.12:42263248:T:G Identity +NM_152701.5:c.1655A>G NP_689914.3:p.Asp552Gly NC_000007.14:48246025:A:G p.(Asp552Gly) NC_000007.14:48246025:A:G p.(Asp552Gly) NC_000007.14:48246025:A:G Identity +NM_001202858.2:c.1453G>T NP_001189787.1:p.Ala485Ser NC_000001.11:150512791:G:T p.(Ala485Ser) NC_000001.11:150512791:G:T p.(Ala485Ser) NC_000001.11:150512791:G:T Identity +NM_001035254.3:c.881C>T NP_001030331.1:p.Pro294Leu NC_000009.12:127945402:G:A p.(Pro294Leu) NC_000009.12:127945402:G:A p.(Pro294Leu) NC_000009.12:127945402:G:A Identity +NM_001167890.2:c.431A>G NP_001161362.1:p.Gln144Arg NC_000023.11:13603346:A:G p.(Gln144Arg) NC_000023.11:13603346:A:G p.(Gln144Arg) NC_000023.11:13603346:A:G Identity +NM_001377260.1:c.227G>A NP_001364189.1:p.Gly76Asp NC_000001.11:231421661:C:T p.(Gly76Asp) NC_000001.11:231421661:C:T p.(Gly76Asp) NC_000001.11:231421661:C:T Identity +NM_001177800.2:c.284C>T NP_001171271.1:p.Pro95Leu NC_000003.12:186854252:C:T p.(Pro95Leu) NC_000003.12:186854252:C:T p.(Pro95Leu) NC_000003.12:186854252:C:T Identity +NM_001253845.2:c.313C>T NP_001240774.1:p.Leu105Phe NC_000022.11:50482768:C:T p.(Leu105Phe) NC_000022.11:50482768:C:T p.(Leu105Phe) NC_000022.11:50482768:C:T Identity +NM_001379611.1:c.1013C>T NP_001366540.1:p.Ala338Val NC_000004.12:110506730:C:T p.(Ala338Val) NC_000004.12:110506730:C:T p.(Ala338Val) NC_000004.12:110506730:C:T Identity +NM_006208.3:c.1510A>C NP_006199.2:p.Ser504Arg NC_000006.12:131872994:A:C p.(Ser504Arg) NC_000006.12:131872994:A:C p.(Ser504Arg) NC_000006.12:131872994:A:C Identity +NM_001040092.3:c.965G>T NP_001035181.1:p.Gly322Val NC_000008.11:119600684:C:A p.(Gly322Val) NC_000008.11:119600684:C:A p.(Gly322Val) NC_000008.11:119600684:C:A Identity +NM_014936.5:c.320A>G NP_055751.1:p.Asp107Gly NC_000006.12:46139902:A:G p.(Asp107Gly) NC_000006.12:46139902:A:G p.(Asp107Gly) NC_000006.12:46139902:A:G Identity +NM_001128930.3:c.1022A>G NP_001122402.1:p.Asn341Ser NC_000008.11:23439751:T:C p.(Asn341Ser) NC_000008.11:23439751:T:C p.(Asn341Ser) NC_000008.11:23439751:T:C Identity +NM_005232.5:c.800G>A NP_005223.4:p.Gly267Asp NC_000007.14:143399685:C:T p.(Gly267Asp) NC_000007.14:143399685:C:T p.(Gly267Asp) NC_000007.14:143399685:C:T Identity +NM_001099439.2:c.2306G>A NP_001092909.1:p.Arg769Gln NC_000001.11:37720456:C:T p.(Arg769Gln) NC_000001.11:37720456:C:T p.(Arg769Gln) NC_000001.11:37720456:C:T Identity +NM_001329090.2:c.856A>G NP_001316019.1:p.Met286Val NC_000001.11:16138146:T:C p.(Met286Val) NC_000001.11:16138146:T:C p.(Met286Val) NC_000001.11:16138146:T:C Identity +NM_004441.5:c.2930G>A NP_004432.1:p.Ser977Asn NC_000003.12:135259094:G:A p.(Ser977Asn) NC_000003.12:135259094:G:A p.(Ser977Asn) NC_000003.12:135259094:G:A Identity +NM_004443.4:c.2731G>C NP_004434.2:p.Gly911Arg NC_000003.12:184581163:G:C p.(Gly911Arg) NC_000003.12:184581163:G:C p.(Gly911Arg) NC_000003.12:184581163:G:C Identity +NM_001114089.4:c.190G>C NP_001107561.2:p.Ala64Pro NC_000020.11:25207261:G:C p.(Ala64Pro) NC_000020.11:25207261:G:C p.(Ala64Pro) NC_000020.11:25207261:G:C Identity +NM_001033113.2:c.1049A>G NP_001028285.1:p.Tyr350Cys NC_000009.12:137436013:T:C p.(Tyr350Cys) NC_000009.12:137436013:T:C p.(Tyr350Cys) NC_000009.12:137436013:T:C Identity +NM_001039707.2:c.1124C>T NP_001034796.1:p.Ala375Val NC_000009.12:136404138:G:A p.(Ala375Val) NC_000009.12:136404138:G:A p.(Ala375Val) NC_000009.12:136404138:G:A Identity +NM_001362843.2:c.3689A>C NP_001349772.1:p.Gln1230Pro NC_000022.11:41164090:A:C p.(Gln1230Pro) NC_000022.11:41164090:A:C p.(Gln1230Pro) NC_000022.11:41164090:A:C Identity +NM_001077593.1:c.1111T>C NP_001071061.1:p.Phe371Leu NC_000008.11:66457114:T:C ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found ERR:AlignmentMapper(tx_ac=NM_001077593.1, alt_ac=NM_001077593.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077593.1, alt_ac=NM_001077593.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077593.1 not found +NM_001130071.2:c.212C>T NP_001123543.1:p.Pro71Leu NC_000019.10:55677713:C:T p.(Pro71Leu) NC_000019.10:55677713:C:T p.(Pro71Leu) NC_000019.10:55677713:C:T Identity +NM_001130071.2:c.739G>A NP_001123543.1:p.Asp247Asn NC_000019.10:55685572:G:A p.(Asp247Asn) NC_000019.10:55685572:G:A p.(Asp247Asn) NC_000019.10:55685572:G:A Identity +NM_001258374.3:c.1364A>C NP_001245303.1:p.Gln455Pro NC_000019.10:16404651:T:G p.(Gln455Pro) NC_000019.10:16404651:T:G p.(Gln455Pro) NC_000019.10:16404651:T:G Identity +NM_015409.5:c.6986A>G NP_056224.3:p.Asn2329Ser NC_000012.12:132045519:A:G p.(Asn2329Ser) NC_000012.12:132045519:A:G p.(Asn2329Ser) NC_000012.12:132045519:A:G Identity +NM_001347887.2:c.375G>C NP_001334816.1:p.Gln125His NC_000005.10:112266290:C:G p.(Gln125His) NC_000005.10:112266290:C:G p.(Gln125His) NC_000005.10:112266290:C:G Identity +NM_001184937.2:c.1231A>T NP_001171866.1:p.Met411Leu NC_000002.12:120100707:A:T p.(Met411Leu) NC_000002.12:120100707:A:T p.(Met411Leu) NC_000002.12:120100707:A:T Identity +NM_000119.3:c.595G>A NP_000110.2:p.Gly199Ser NC_000015.10:43211459:C:T p.(Gly199Ser) NC_000015.10:43211459:C:T p.(Gly199Ser) NC_000015.10:43211459:C:T Identity +NM_000502.6:c.632A>G NP_000493.1:p.Asn211Ser NC_000017.11:58195000:A:G p.(Asn211Ser) NC_000017.11:58195000:A:G p.(Asn211Ser) NC_000017.11:58195000:A:G Identity +NM_005236.3:c.1826T>C NP_005227.1:p.Ile609Thr NC_000016.10:13937779:T:C p.(Ile609Thr) NC_000016.10:13937779:T:C p.(Ile609Thr) NC_000016.10:13937779:T:C Identity +NM_001031711.3:c.779T>C NP_001026881.1:p.Ile260Thr NC_000005.10:172950721:T:C p.(Ile260Thr) NC_000005.10:172950721:T:C p.(Ile260Thr) NC_000005.10:172950721:T:C Identity +NM_001280794.3:c.1280G>A NP_001267723.2:p.Arg427Gln NC_000007.14:142868611:G:A p.(Arg427Gln) NC_000007.14:142868611:G:A p.(Arg427Gln) NC_000007.14:142868611:G:A Identity +NM_001330530.3:c.188A>G NP_001317459.1:p.Gln63Arg NC_000002.12:3338087:T:C p.(Gln63Arg) NC_000002.12:3338087:T:C p.(Gln63Arg) NC_000002.12:3338087:T:C Identity +NM_018696.3:c.247G>C NP_061166.1:p.Gly83Arg NC_000018.10:50984184:G:C p.(Gly83Arg) NC_000018.10:50984184:G:C p.(Gly83Arg) NC_000018.10:50984184:G:C Identity +NM_001267048.2:c.275C>G NP_001253977.2:p.Ser92Cys NC_000001.11:109164498:C:G p.(Ser92Cys) NC_000001.11:109164498:C:G p.(Ser92Cys) NC_000001.11:109164498:C:G Identity +NM_004446.3:c.4003C>T NP_004437.2:p.Leu1335Phe NC_000001.11:219978625:G:A p.(Leu1335Phe) NC_000001.11:219978625:G:A p.(Leu1335Phe) NC_000001.11:219978625:G:A Identity +NM_001413831.1:c.1997T>C NP_001400760.1:p.Ile666Thr NC_000012.12:15631524:A:G p.(Ile666Thr) NC_000012.12:15631524:A:G p.(Ile666Thr) NC_000012.12:15631524:A:G Identity +NM_133180.3:c.176C>G NP_573441.2:p.Ser59Cys NC_000019.10:55079747:C:G p.(Ser59Cys) NC_000019.10:55079747:C:G p.(Ser59Cys) NC_000019.10:55079747:C:G Identity +NM_017729.4:c.170C>G NP_060199.3:p.Ala57Gly NC_000019.10:55081268:C:G p.(Ala57Gly) NC_000019.10:55081268:C:G p.(Ala57Gly) NC_000019.10:55081268:C:G Identity +NM_022772.4:c.2119A>G NP_073609.2:p.Met707Val NC_000011.10:726951:A:G p.(Met707Val) NC_000011.10:726951:A:G p.(Met707Val) NC_000011.10:726951:A:G Identity +NM_001127197.2:c.371A>C NP_001120669.1:p.Asp124Ala NC_000023.11:130072386:T:G p.(Asp124Ala) NC_000023.11:130072386:T:G p.(Asp124Ala) NC_000023.11:130072386:T:G Identity +NM_052906.5:c.2140G>A NP_443138.2:p.Ala714Thr NC_000022.11:37373394:C:T p.(Ala714Thr) NC_000022.11:37373394:C:T p.(Ala714Thr) NC_000022.11:37373394:C:T Identity +NM_003198.3:c.1481A>G NP_003189.3:p.Asn494Ser NC_000001.11:23752461:A:G p.(Asn494Ser) NC_000001.11:23752461:A:G p.(Asn494Ser) NC_000001.11:23752461:A:G Identity +NM_016427.3:c.1637A>C NP_057511.2:p.Asp546Ala NC_000018.10:47033627:T:G p.(Asp546Ala) NC_000018.10:47033627:T:G p.(Asp546Ala) NC_000018.10:47033627:T:G Identity +NM_000502.6:c.188G>A NP_000493.1:p.Arg63His NC_000017.11:58193387:G:A p.(Arg63His) NC_000017.11:58193387:G:A p.(Arg63His) NC_000017.11:58193387:G:A Identity +NM_005236.3:c.2494A>G NP_005227.1:p.Thr832Ala NC_000016.10:13948089:A:G p.(Thr832Ala) NC_000016.10:13948089:A:G p.(Thr832Ala) NC_000016.10:13948089:A:G Identity +NM_001031711.3:c.304G>A NP_001026881.1:p.Asp102Asn NC_000005.10:172914766:G:A p.(Asp102Asn) NC_000005.10:172914766:G:A p.(Asp102Asn) NC_000005.10:172914766:G:A Identity +NM_016427.3:c.511T>C NP_057511.2:p.Ser171Pro NC_000018.10:47034753:A:G p.(Ser171Pro) NC_000018.10:47034753:A:G p.(Ser171Pro) NC_000018.10:47034753:A:G Identity +NM_016427.3:c.899C>A NP_057511.2:p.Ala300Asp NC_000018.10:47034365:G:T p.(Ala300Asp) NC_000018.10:47034365:G:T p.(Ala300Asp) NC_000018.10:47034365:G:T Identity +NM_016427.3:c.938C>G NP_057511.2:p.Ser313Trp NC_000018.10:47034326:G:C p.(Ser313Trp) NC_000018.10:47034326:G:C p.(Ser313Trp) NC_000018.10:47034326:G:C Identity +NM_001284220.2:c.192A>C NP_001271149.1:p.Arg64Ser NC_000008.11:28110383:A:C p.(Arg64Ser) NC_000008.11:28110383:A:C p.(Arg64Ser) NC_000008.11:28110383:A:C Identity +NM_001166131.2:c.1128C>G NP_001159603.1:p.Phe376Leu NC_000017.11:50379082:C:G p.(Phe376Leu) NC_000017.11:50379082:C:G p.(Phe376Leu) NC_000017.11:50379082:C:G Identity +NM_001042573.3:c.1474A>G NP_001036038.1:p.Lys492Glu NC_000017.11:79084568:A:G p.(Lys492Glu) NC_000017.11:79084568:A:G p.(Lys492Glu) NC_000017.11:79084568:A:G Identity +NM_001242699.2:c.1690A>G NP_001229628.1:p.Ile564Val NC_000010.11:116879952:A:G p.(Ile564Val) NC_000010.11:116879952:A:G p.(Ile564Val) NC_000010.11:116879952:A:G Identity +NM_001379611.1:c.1448C>A NP_001366540.1:p.Ser483Tyr NC_000004.12:110515380:C:A p.(Ser483Tyr) NC_000004.12:110515380:C:A p.(Ser483Tyr) NC_000004.12:110515380:C:A Identity +NM_014936.5:c.838G>T NP_055751.1:p.Val280Phe NC_000006.12:46141062:G:T p.(Val280Phe) NC_000006.12:46141062:G:T p.(Val280Phe) NC_000006.12:46141062:G:T Identity +NM_001246.4:c.1241C>T NP_001237.1:p.Ala414Val NC_000009.12:137048834:G:A p.(Ala414Val) NC_000009.12:137048834:G:A p.(Ala414Val) NC_000009.12:137048834:G:A Identity +NM_001128930.3:c.1397G>A NP_001122402.1:p.Arg466Gln NC_000008.11:23435430:C:T p.(Arg466Gln) NC_000008.11:23435430:C:T p.(Arg466Gln) NC_000008.11:23435430:C:T Identity +NM_000672.4:c.19G>T NP_000663.1:p.Val7Phe NC_000004.12:99216261:C:A p.(Val7Phe) NC_000004.12:99216261:C:A p.(Val7Phe) NC_000004.12:99216261:C:A Identity +NM_001039707.2:c.867G>C NP_001034796.1:p.Gln289His NC_000009.12:136405930:C:G p.(Gln289His) NC_000009.12:136405930:C:G p.(Gln289His) NC_000009.12:136405930:C:G Identity +NM_001171907.3:c.110G>A NP_001165378.1:p.Cys37Tyr NC_000023.11:149545739:G:A p.(Cys37Tyr) NC_000023.11:149545739:G:A p.(Cys37Tyr) NC_000023.11:149545739:G:A Identity +NM_001362843.2:c.2338C>T NP_001349772.1:p.Pro780Ser NC_000022.11:41149796:C:T p.(Pro780Ser) NC_000022.11:41149796:C:T p.(Pro780Ser) NC_000022.11:41149796:C:T Identity +NM_015409.5:c.7510G>A NP_056224.3:p.Val2504Met NC_000012.12:132053378:G:A p.(Val2504Met) NC_000012.12:132053378:G:A p.(Val2504Met) NC_000012.12:132053378:G:A Identity +NM_001258329.1:c.1589G>A NP_001245258.1:p.Arg530Gln NC_000020.11:36197961:G:A p.(Arg530Gln) NC_000020.11:36197961:G:A p.(Arg530Gln) NC_000020.11:36197961:G:A Identity +NM_001099439.2:c.1658G>A NP_001092909.1:p.Gly553Glu NC_000001.11:37731415:C:T p.(Gly553Glu) NC_000001.11:37731415:C:T p.(Gly553Glu) NC_000001.11:37731415:C:T Identity +NM_001288629.2:c.1949C>G NP_001275558.1:p.Pro650Arg NC_000006.12:93258244:G:C p.(Pro650Arg) NC_000006.12:93258244:G:C p.(Pro650Arg) NC_000006.12:93258244:G:C Identity +NM_001256482.2:c.1483A>G NP_001243411.1:p.Asn495Asp NC_000008.11:27544495:A:G p.(Asn495Asp) NC_000008.11:27544495:A:G p.(Asn495Asp) NC_000008.11:27544495:A:G Identity +NM_017957.3:c.517G>A NP_060427.2:p.Gly173Ser NC_000017.11:50537072:G:A p.(Gly173Ser) NC_000017.11:50537072:G:A p.(Gly173Ser) NC_000017.11:50537072:G:A Identity +NM_001002912.5:c.2563G>A NP_001002912.4:p.Gly855Arg NC_000001.11:74573146:C:T p.(Gly855Arg) NC_000001.11:74573146:C:T p.(Gly855Arg) NC_000001.11:74573146:C:T Identity +NM_207582.3:c.310C>T NP_997465.1:p.Arg104Cys NC_000006.12:11105000:G:A p.(Arg104Cys) NC_000006.12:11105000:G:A p.(Arg104Cys) NC_000006.12:11105000:G:A Identity +NM_001308370.2:c.689G>A NP_001295299.1:p.Arg230His NC_000002.12:238130506:G:A p.(Arg230His) NC_000002.12:238130506:G:A p.(Arg230His) NC_000002.12:238130506:G:A Identity +NM_015051.3:c.34C>T NP_055866.1:p.Leu12Phe NC_000009.12:100098806:G:A p.(Leu12Phe) NC_000009.12:100098806:G:A p.(Leu12Phe) NC_000009.12:100098806:G:A Identity +NM_015051.3:c.589G>C NP_055866.1:p.Asp197His NC_000009.12:100018311:C:G p.(Asp197His) NC_000009.12:100018311:C:G p.(Asp197His) NC_000009.12:100018311:C:G Identity +NM_000680.4:c.1321C>G NP_000671.2:p.Pro441Ala NC_000008.11:26770228:G:C p.(Pro441Ala) NC_000008.11:26770228:G:C p.(Pro441Ala) NC_000008.11:26770228:G:C Identity +NM_022719.3:c.1142A>G NP_073210.1:p.Asn381Ser NC_000022.11:19135068:T:C p.(Asn381Ser) NC_000022.11:19135068:T:C p.(Asn381Ser) NC_000022.11:19135068:T:C Identity +NM_022719.3:c.379C>T NP_073210.1:p.Arg127Cys NC_000022.11:19142558:G:A p.(Arg127Cys) NC_000022.11:19142558:G:A p.(Arg127Cys) NC_000022.11:19142558:G:A Identity +NM_022719.3:c.382G>A NP_073210.1:p.Gly128Ser NC_000022.11:19142555:C:T p.(Gly128Ser) NC_000022.11:19142555:C:T p.(Gly128Ser) NC_000022.11:19142555:C:T Identity +NM_001365264.1:c.1291A>G NP_001352193.1:p.Ile431Val NC_000016.10:68231839:T:C p.(Ile431Val) NC_000016.10:68231839:T:C p.(Ile431Val) NC_000016.10:68231839:T:C Identity +NM_001365264.1:c.2101G>C NP_001352193.1:p.Ala701Pro NC_000016.10:68230308:C:G p.(Ala701Pro) NC_000016.10:68230308:C:G p.(Ala701Pro) NC_000016.10:68230308:C:G Identity +NM_001256295.2:c.1088C>T NP_001243224.1:p.Pro363Leu NC_000021.9:38818502:C:T p.(Pro363Leu) NC_000021.9:38818502:C:T p.(Pro363Leu) NC_000021.9:38818502:C:T Identity +NM_001080458.2:c.1265G>A NP_001073927.1:p.Gly422Asp NC_000002.12:176080272:C:T p.(Gly422Asp) NC_000002.12:176080272:C:T p.(Gly422Asp) NC_000002.12:176080272:C:T Identity +NM_001193360.2:c.91C>T NP_001180289.1:p.Arg31Cys NC_000014.9:69209560:C:T p.(Arg31Cys) NC_000014.9:69209560:C:T p.(Arg31Cys) NC_000014.9:69209560:C:T Identity +NM_178516.4:c.289C>T NP_848611.2:p.Arg97Trp NC_000016.10:67188858:G:A p.(Arg97Trp) NC_000016.10:67188858:G:A p.(Arg97Trp) NC_000016.10:67188858:G:A Identity +NM_001281437.1:c.722C>T NP_001268366.1:p.Pro241Leu NC_000020.11:62307810:C:T p.(Pro241Leu) NC_000020.11:62307810:C:T p.(Pro241Leu) NC_000020.11:62307810:C:T Identity +NM_001382464.1:c.1296A>C NP_001369393.1:p.Lys432Asn NC_000014.9:52646242:T:G p.(Lys432Asn) NC_000014.9:52646242:T:G p.(Lys432Asn) NC_000014.9:52646242:T:G Identity +NM_017825.3:c.583G>T NP_060295.1:p.Ala195Ser NC_000001.11:36091975:G:T p.(Ala195Ser) NC_000001.11:36091975:G:T p.(Ala195Ser) NC_000001.11:36091975:G:T Identity +NM_017820.5:c.1232G>A NP_060290.3:p.Arg411Gln NC_000009.12:137351469:C:T p.(Arg411Gln) NC_000009.12:137351469:C:T p.(Arg411Gln) NC_000009.12:137351469:C:T Identity +NM_001382422.1:c.2188C>G NP_001369351.1:p.Leu730Val NC_000019.10:45213289:G:C p.(Leu730Val) NC_000019.10:45213289:G:C p.(Leu730Val) NC_000019.10:45213289:G:C Identity +NM_001144763.2:c.3632A>G NP_001138235.1:p.Glu1211Gly NC_000011.10:108511646:T:C p.(Glu1211Gly) NC_000011.10:108511646:T:C p.(Glu1211Gly) NC_000011.10:108511646:T:C Identity +NM_001144763.2:c.5527C>G NP_001138235.1:p.Pro1843Ala NC_000011.10:108509751:G:C p.(Pro1843Ala) NC_000011.10:108509751:G:C p.(Pro1843Ala) NC_000011.10:108509751:G:C Identity +NM_001142800.2:c.8183C>T NP_001136272.1:p.Ala2728Val NC_000006.12:63726568:G:A p.(Ala2728Val) NC_000006.12:63726568:G:A p.(Ala2728Val) NC_000006.12:63726568:G:A Identity +NM_000128.4:c.1228C>T NP_000119.1:p.Pro410Ser NC_000004.12:186284183:C:T p.(Pro410Ser) NC_000004.12:186284183:C:T p.(Pro410Ser) NC_000004.12:186284183:C:T Identity +NM_194312.4:c.865A>G NP_919288.2:p.Thr289Ala NC_000002.12:238116911:A:G p.(Thr289Ala) NC_000002.12:238116911:A:G p.(Thr289Ala) NC_000002.12:238116911:A:G Identity +NM_001365264.1:c.1433G>A NP_001352193.1:p.Arg478His NC_000016.10:68231590:C:T p.(Arg478His) NC_000016.10:68231590:C:T p.(Arg478His) NC_000016.10:68231590:C:T Identity +NM_001322831.2:c.1681C>T NP_001309760.1:p.Arg561Cys NC_000003.12:138470966:C:T p.(Arg561Cys) NC_000003.12:138470966:C:T p.(Arg561Cys) NC_000003.12:138470966:C:T Identity +NM_019002.4:c.313A>G NP_061875.2:p.Ile105Val NC_000002.12:67399257:A:G p.(Ile105Val) NC_000002.12:67399257:A:G p.(Ile105Val) NC_000002.12:67399257:A:G Identity +NM_001365264.1:c.704G>C NP_001352193.1:p.Gly235Ala NC_000016.10:68232766:C:G p.(Gly235Ala) NC_000016.10:68232766:C:G p.(Gly235Ala) NC_000016.10:68232766:C:G Identity +NM_000401.3:c.1967A>G NP_000392.3:p.His656Arg NC_000011.10:44234175:A:G p.(His656Arg) NC_000011.10:44234175:A:G p.(His656Arg) NC_000011.10:44234175:A:G Identity +NM_001111077.2:c.1655T>A NP_001104547.1:p.Ile552Asn NC_000006.12:158767019:A:T p.(Ile552Asn) NC_000006.12:158767019:A:T p.(Ile552Asn) NC_000006.12:158767019:A:T Identity +NM_000505.4:c.1226C>T NP_000496.2:p.Thr409Met NC_000005.10:177403882:G:A p.(Thr409Met) NC_000005.10:177403882:G:A p.(Thr409Met) NC_000005.10:177403882:G:A Identity +NM_001143948.2:c.559C>A NP_001137420.1:p.Arg187Ser NC_000006.12:11735568:G:T p.(Arg187Ser) NC_000006.12:11735568:G:T p.(Arg187Ser) NC_000006.12:11735568:G:T Identity +NM_016044.3:c.268G>C NP_057128.2:p.Val90Leu NC_000002.12:95406962:G:C p.(Val90Leu) NC_000002.12:95406962:G:C p.(Val90Leu) NC_000002.12:95406962:G:C Identity +NM_001159944.3:c.1763G>A NP_001153416.1:p.Arg588His NC_000019.10:7862239:G:A p.(Arg588His) NC_000019.10:7862239:G:A p.(Arg588His) NC_000019.10:7862239:G:A Identity +NM_000683.4:c.908G>A NP_000674.2:p.Arg303Gln NC_000004.12:3767513:G:A p.(Arg303Gln) NC_000004.12:3767513:G:A p.(Arg303Gln) NC_000004.12:3767513:G:A Identity +NM_001286441.2:c.1516G>A NP_001273370.1:p.Glu506Lys NC_000015.10:41184133:C:T p.(Glu506Lys) NC_000015.10:41184133:C:T p.(Glu506Lys) NC_000015.10:41184133:C:T Identity +NM_001178096.2:c.305C>T NP_001171567.1:p.Thr102Met NC_000001.11:94536071:G:A p.(Thr102Met) NC_000001.11:94536071:G:A p.(Thr102Met) NC_000001.11:94536071:G:A Identity +NM_000132.4:c.3969G>C NP_000123.1:p.Gln1323His NC_000023.11:154929820:C:G p.(Gln1323His) NC_000023.11:154929820:C:G p.(Gln1323His) NC_000023.11:154929820:C:G Identity +NM_012306.4:c.295C>T NP_036438.2:p.Arg99Cys NC_000012.12:49898006:G:A p.(Arg99Cys) NC_000012.12:49898006:G:A p.(Arg99Cys) NC_000012.12:49898006:G:A Identity +NM_001317993.2:c.1249C>T NP_001304922.1:p.Leu417Phe NC_000005.10:154002257:G:A p.(Leu417Phe) NC_000005.10:154002257:G:A p.(Leu417Phe) NC_000005.10:154002257:G:A Identity +NM_001146337.3:c.1096C>T NP_001139809.1:p.Arg366Trp NC_000005.10:149315895:C:T p.(Arg366Trp) NC_000005.10:149315895:C:T p.(Arg366Trp) NC_000005.10:149315895:C:T Identity +NM_017820.5:c.2590G>A NP_060290.3:p.Glu864Lys NC_000009.12:137306990:C:T p.(Glu864Lys) NC_000009.12:137306990:C:T p.(Glu864Lys) NC_000009.12:137306990:C:T Identity +NM_001319224.2:c.119T>C NP_001306153.1:p.Ile40Thr NC_000001.11:241850543:T:C p.(Ile40Thr) NC_000001.11:241850543:T:C p.(Ile40Thr) NC_000001.11:241850543:T:C Identity +NM_001077594.2:c.1306G>A NP_001071062.1:p.Ala436Thr NC_000014.9:103104758:G:A p.(Ala436Thr) NC_000014.9:103104758:G:A p.(Ala436Thr) NC_000014.9:103104758:G:A Identity +NM_001037126.2:c.233G>A NP_001032203.1:p.Ser78Asn NC_000007.14:133275127:G:A p.(Ser78Asn) NC_000007.14:133275127:G:A p.(Ser78Asn) NC_000007.14:133275127:G:A Identity +NM_001286379.2:c.254A>G NP_001273308.1:p.Asp85Gly NC_000006.12:170317607:A:G p.(Asp85Gly) NC_000006.12:170317607:A:G p.(Asp85Gly) NC_000006.12:170317607:A:G Identity +NM_001329752.2:c.461T>C NP_001316681.1:p.Met154Thr NC_000002.12:70300927:A:G p.(Met154Thr) NC_000002.12:70300927:A:G p.(Met154Thr) NC_000002.12:70300927:A:G Identity +NM_205548.3:c.715G>A NP_991111.2:p.Val239Ile NC_000005.10:80541715:G:A p.(Val239Ile) NC_000005.10:80541715:G:A p.(Val239Ile) NC_000005.10:80541715:G:A Identity +NM_004455.3:c.969G>C NP_004446.2:p.Arg323Ser NC_000001.11:26029694:G:C p.(Arg323Ser) NC_000001.11:26029694:G:C p.(Arg323Ser) NC_000001.11:26029694:G:C Identity +NM_001126.5:c.234T>G NP_001117.2:p.Asp78Glu NC_000001.11:244437717:A:C p.(Asp78Glu) NC_000001.11:244437717:A:C p.(Asp78Glu) NC_000001.11:244437717:A:C Identity +NM_004455.3:c.964G>A NP_004446.2:p.Glu322Lys NC_000001.11:26029689:G:A p.(Glu322Lys) NC_000001.11:26029689:G:A p.(Glu322Lys) NC_000001.11:26029689:G:A Identity +NM_000503.6:c.1585G>A NP_000494.2:p.Ala529Thr NC_000008.11:71215398:C:T p.(Ala529Thr) NC_000008.11:71215398:C:T p.(Ala529Thr) NC_000008.11:71215398:C:T Identity +NM_001001936.3:c.1446G>T NP_001001936.1:p.Lys482Asn NC_000010.11:114301449:C:A p.(Lys482Asn) NC_000010.11:114301449:C:A p.(Lys482Asn) NC_000010.11:114301449:C:A Identity +NM_001001936.3:c.292C>G NP_001001936.1:p.Pro98Ala NC_000010.11:114331825:G:C p.(Pro98Ala) NC_000010.11:114331825:G:C p.(Pro98Ala) NC_000010.11:114331825:G:C Identity +NM_178128.6:c.147G>C NP_835229.3:p.Glu49Asp NC_000017.11:74893448:C:G p.(Glu49Asp) NC_000017.11:74893448:C:G p.(Glu49Asp) NC_000017.11:74893448:C:G Identity +NM_001105281.6:c.317C>T NP_001098751.1:p.Thr106Met NC_000008.11:81527050:G:A p.(Thr106Met) NC_000008.11:81527050:G:A p.(Thr106Met) NC_000008.11:81527050:G:A Identity +NM_001195442.2:c.136C>T NP_001182371.2:p.Arg46Cys NC_000003.12:46617302:C:T p.(Arg46Cys) NC_000003.12:46617302:C:T p.(Arg46Cys) NC_000003.12:46617302:C:T Identity +NM_001169122.2:c.3445T>C NP_001162593.1:p.Ser1149Pro NC_000023.11:148978434:T:C p.(Ser1149Pro) NC_000023.11:148978434:T:C p.(Ser1149Pro) NC_000023.11:148978434:T:C Identity +NM_001169122.2:c.499G>A NP_001162593.1:p.Ala167Thr NC_000023.11:148662237:G:A p.(Ala167Thr) NC_000023.11:148662237:G:A p.(Ala167Thr) NC_000023.11:148662237:G:A Identity +NM_001013622.3:c.463A>G NP_001013644.1:p.Ser155Gly NC_000004.12:1655396:T:C p.(Ser155Gly) NC_000004.12:1655396:T:C p.(Ser155Gly) NC_000004.12:1655396:T:C Identity +NM_001013622.3:c.662G>A NP_001013644.1:p.Arg221His NC_000004.12:1655197:C:T p.(Arg221His) NC_000004.12:1655197:C:T p.(Arg221His) NC_000004.12:1655197:C:T Identity +NM_182623.3:c.150G>A NP_872429.2:p.Met50Ile NC_000001.11:16062522:C:T p.(Met50Ile) NC_000001.11:16062522:C:T p.(Met50Ile) NC_000001.11:16062522:C:T Identity +NM_001015045.3:c.1435A>G NP_001015045.1:p.Lys479Glu NC_000004.12:88746984:T:C p.(Lys479Glu) NC_000004.12:88746984:T:C p.(Lys479Glu) NC_000004.12:88746984:T:C Identity +NM_001040057.3:c.361C>T NP_001035146.1:p.Arg121Trp NC_000007.14:92577176:G:A p.(Arg121Trp) NC_000007.14:92577176:G:A p.(Arg121Trp) NC_000007.14:92577176:G:A Identity +NM_001029888.3:c.164A>T NP_001025059.1:p.His55Leu NC_000010.11:122912799:A:T p.(His55Leu) NC_000010.11:122912799:A:T p.(His55Leu) NC_000010.11:122912799:A:T Identity +NM_203408.4:c.76C>T NP_981953.2:p.Pro26Ser NC_000023.11:34132202:G:A p.(Pro26Ser) NC_000023.11:34132202:G:A p.(Pro26Ser) NC_000023.11:34132202:G:A Identity +NM_001025108.2:c.2572A>G NP_001020279.1:p.Lys858Glu NC_000002.12:99587247:T:C p.(Lys858Glu) NC_000002.12:99587247:T:C p.(Lys858Glu) NC_000002.12:99587247:T:C Identity +NM_001329712.2:c.498C>A NP_001316641.1:p.Asp166Glu NC_000001.11:179814182:C:A p.(Asp166Glu) NC_000001.11:179814182:C:A p.(Asp166Glu) NC_000001.11:179814182:C:A Identity +NM_001122646.3:c.1666C>G NP_001116118.2:p.Arg556Gly NC_000002.12:96894035:G:C p.(Arg556Gly) NC_000002.12:96894035:G:C p.(Arg556Gly) NC_000002.12:96894035:G:C Identity +NM_001146337.3:c.86C>T NP_001139809.1:p.Thr29Ile NC_000005.10:149299577:C:T p.(Thr29Ile) NC_000005.10:149299577:C:T p.(Thr29Ile) NC_000005.10:149299577:C:T Identity +NM_173348.2:c.1199G>A NP_775483.1:p.Arg400Gln NC_000010.11:73233009:G:A p.(Arg400Gln) NC_000010.11:73233009:G:A p.(Arg400Gln) NC_000010.11:73233009:G:A Identity +NM_014367.4:c.145G>A NP_055182.3:p.Gly49Arg NC_000003.12:122402869:G:A p.(Gly49Arg) NC_000003.12:122402869:G:A p.(Gly49Arg) NC_000003.12:122402869:G:A Identity +NM_053279.3:c.122C>G NP_444509.2:p.Thr41Ser NC_000008.11:11444289:G:C p.(Thr41Ser) NC_000008.11:11444289:G:C p.(Thr41Ser) NC_000008.11:11444289:G:C Identity +NM_001376049.1:c.1219C>A NP_001362978.1:p.Leu407Met NC_000005.10:74796070:G:T p.(Leu407Met) NC_000005.10:74796070:G:T p.(Leu407Met) NC_000005.10:74796070:G:T Identity +NM_001001936.3:c.217A>G NP_001001936.1:p.Lys73Glu NC_000010.11:114333223:T:C p.(Lys73Glu) NC_000010.11:114333223:T:C p.(Lys73Glu) NC_000010.11:114333223:T:C Identity +NM_198475.3:c.1670G>A NP_940877.2:p.Gly557Asp NC_000017.11:44354543:C:T p.(Gly557Asp) NC_000017.11:44354543:C:T p.(Gly557Asp) NC_000017.11:44354543:C:T Identity +NM_001079519.1:c.470A>G NP_001072987.1:p.Glu157Gly NC_000014.9:35081055:A:G p.(Glu157Gly) NC_000014.9:35081055:A:G p.(Glu157Gly) NC_000014.9:35081055:A:G Identity +NM_001083537.4:c.458G>A NP_001077006.1:p.Ser153Asn NC_000008.11:12186533:C:T p.(Ser153Asn) NC_000008.11:12186533:C:T p.(Ser153Asn) NC_000008.11:12186533:C:T Identity +NM_205849.3:c.175A>G NP_995321.1:p.Thr59Ala NC_000023.11:9032135:T:C p.(Thr59Ala) NC_000023.11:9032135:T:C p.(Thr59Ala) NC_000023.11:9032135:T:C Identity +NM_000135.4:c.713T>C NP_000126.2:p.Phe238Ser NC_000016.10:89803337:A:G p.(Phe238Ser) NC_000016.10:89803337:A:G p.(Phe238Ser) NC_000016.10:89803337:A:G Identity +NM_152701.5:c.7988C>T NP_689914.3:p.Thr2663Ile NC_000007.14:48279181:C:T p.(Thr2663Ile) NC_000007.14:48279181:C:T p.(Thr2663Ile) NC_000007.14:48279181:C:T Identity +NM_001113378.2:c.2897T>C NP_001106849.1:p.Leu966Ser NC_000015.10:89301332:T:C p.(Leu966Ser) NC_000015.10:89301332:T:C p.(Leu966Ser) NC_000015.10:89301332:T:C Identity +NM_005687.5:c.637A>G NP_005678.3:p.Ile213Val NC_000002.12:222633276:T:C p.(Ile213Val) NC_000002.12:222633276:T:C p.(Ile213Val) NC_000002.12:222633276:T:C Identity +NM_015688.2:c.1282C>G NP_056503.1:p.Leu428Val NC_000004.12:17705094:G:C p.(Leu428Val) NC_000004.12:17705094:G:C p.(Leu428Val) NC_000004.12:17705094:G:C Identity +NM_001166693.3:c.1616C>G NP_001160165.1:p.Pro539Arg NC_000004.12:87114448:C:G p.(Pro539Arg) NC_000004.12:87114448:C:G p.(Pro539Arg) NC_000004.12:87114448:C:G Identity +NM_001166693.3:c.2015C>T NP_001160165.1:p.Pro672Leu NC_000004.12:87114847:C:T p.(Pro672Leu) NC_000004.12:87114847:C:T p.(Pro672Leu) NC_000004.12:87114847:C:T Identity +NM_001100411.3:c.217G>T NP_001093881.1:p.Ala73Ser NC_000006.12:119024395:C:A p.(Ala73Ser) NC_000006.12:119024395:C:A p.(Ala73Ser) NC_000006.12:119024395:C:A Identity +NM_032130.3:c.1621C>G NP_115506.1:p.Gln541Glu NC_000012.12:49600018:G:C p.(Gln541Glu) NC_000012.12:49600018:G:C p.(Gln541Glu) NC_000012.12:49600018:G:C Identity +NM_001098801.2:c.506T>C NP_001092271.1:p.Ile169Thr NC_000018.10:13671940:A:G p.(Ile169Thr) NC_000018.10:13671940:A:G p.(Ile169Thr) NC_000018.10:13671940:A:G Identity +NM_001282983.2:c.1591G>A NP_001269912.1:p.Val531Met NC_000002.12:241462525:G:A p.(Val531Met) NC_000002.12:241462525:G:A p.(Val531Met) NC_000002.12:241462525:G:A Identity +NM_004104.5:c.1060G>T NP_004095.4:p.Ala354Ser NC_000017.11:82091653:C:A p.(Ala354Ser) NC_000017.11:82091653:C:A p.(Ala354Ser) NC_000017.11:82091653:C:A Identity +NM_001008781.3:c.11693G>A NP_001008781.2:p.Cys3898Tyr NC_000011.10:92866774:G:A p.(Cys3898Tyr) NC_000011.10:92866774:G:A p.(Cys3898Tyr) NC_000011.10:92866774:G:A Identity +NM_001013622.3:c.1159C>T NP_001013644.1:p.Arg387Cys NC_000004.12:1641330:G:A p.(Arg387Cys) NC_000004.12:1641330:G:A p.(Arg387Cys) NC_000004.12:1641330:G:A Identity +NM_001013622.3:c.850C>T NP_001013644.1:p.Arg284Cys NC_000004.12:1655009:G:A p.(Arg284Cys) NC_000004.12:1655009:G:A p.(Arg284Cys) NC_000004.12:1655009:G:A Identity +NM_001143912.2:c.290A>G NP_001137384.1:p.Gln97Arg NC_000001.11:27732643:A:G p.(Gln97Arg) NC_000001.11:27732643:A:G p.(Gln97Arg) NC_000001.11:27732643:A:G Identity +NM_001288587.3:c.868A>G NP_001275516.1:p.Thr290Ala NC_000008.11:123207418:A:G p.(Thr290Ala) NC_000008.11:123207418:A:G p.(Thr290Ala) NC_000008.11:123207418:A:G Identity +NM_001013622.3:c.1004T>C NP_001013644.1:p.Met335Thr NC_000004.12:1641485:A:G p.(Met335Thr) NC_000004.12:1641485:A:G p.(Met335Thr) NC_000004.12:1641485:A:G Identity +NM_014661.4:c.35G>A NP_055476.3:p.Arg12Gln NC_000010.11:124706678:C:T p.(Arg12Gln) NC_000010.11:124706678:C:T p.(Arg12Gln) NC_000010.11:124706678:C:T Identity +NM_152548.3:c.13T>C NP_689761.2:p.Phe5Leu NC_000005.10:95391401:T:C p.(Phe5Leu) NC_000005.10:95391401:T:C p.(Phe5Leu) NC_000005.10:95391401:T:C Identity +NM_001025108.2:c.1844G>A NP_001020279.1:p.Arg615His NC_000002.12:99593891:C:T p.(Arg615His) NC_000002.12:99593891:C:T p.(Arg615His) NC_000002.12:99593891:C:T Identity +NM_001008781.3:c.5566A>T NP_001008781.2:p.Ser1856Cys NC_000011.10:92798578:A:T p.(Ser1856Cys) NC_000011.10:92798578:A:T p.(Ser1856Cys) NC_000011.10:92798578:A:T Identity +NM_001291285.3:c.2480G>T NP_001278214.1:p.Ser827Ile NC_000004.12:125318890:G:T p.(Ser827Ile) NC_000004.12:125318890:G:T p.(Ser827Ile) NC_000004.12:125318890:G:T Identity +NM_001004019.2:c.2666T>C NP_001004019.1:p.Ile889Thr NC_000003.12:13629000:T:C p.(Ile889Thr) NC_000003.12:13629000:T:C p.(Ile889Thr) NC_000003.12:13629000:T:C Identity +NM_001321431.2:c.8213G>A NP_001308360.1:p.Arg2738His NC_000019.10:8066135:C:T p.(Arg2738His) NC_000019.10:8066135:C:T p.(Arg2738His) NC_000019.10:8066135:C:T Identity +NM_173611.4:c.1261G>A NP_775882.2:p.Gly421Ser NC_000015.10:38484617:G:A p.(Gly421Ser) NC_000015.10:38484617:G:A p.(Gly421Ser) NC_000015.10:38484617:G:A Identity +NM_178468.6:c.1418G>A NP_848563.1:p.Ser473Asn NC_000020.11:35287360:C:T p.(Ser473Asn) NC_000020.11:35287360:C:T p.(Ser473Asn) NC_000020.11:35287360:C:T Identity +NM_001024215.1:c.233T>C NP_001019386.1:p.Met78Thr NC_000001.11:15765215:T:C p.(Met78Thr) NC_000001.11:15765215:T:C p.(Met78Thr) NC_000001.11:15765215:T:C Identity +NM_001134.3:c.1674G>C NP_001125.1:p.Lys558Asn NC_000004.12:73453785:G:C p.(Lys558Asn) NC_000004.12:73453785:G:C p.(Lys558Asn) NC_000004.12:73453785:G:C Identity +NM_001321431.2:c.6380C>T NP_001308360.1:p.Thr2127Ile NC_000019.10:8088175:G:A p.(Thr2127Ile) NC_000019.10:8088175:G:A p.(Thr2127Ile) NC_000019.10:8088175:G:A Identity +NM_001316936.2:c.790C>A NP_001303865.1:p.Gln264Lys NC_000019.10:9810987:G:T p.(Gln264Lys) NC_000019.10:9810987:G:T p.(Gln264Lys) NC_000019.10:9810987:G:T Identity +NM_012166.3:c.1975C>G NP_036298.2:p.His659Asp NC_000009.12:37521793:G:C p.(His659Asp) NC_000009.12:37521793:G:C p.(His659Asp) NC_000009.12:37521793:G:C Identity +NM_178820.5:c.494A>G NP_849142.1:p.Gln165Arg NC_000019.10:39031106:T:C p.(Gln165Arg) NC_000019.10:39031106:T:C p.(Gln165Arg) NC_000019.10:39031106:T:C Identity +NM_001242463.2:c.701G>A NP_001229392.1:p.Gly234Asp NC_000008.11:123503460:C:T p.(Gly234Asp) NC_000008.11:123503460:C:T p.(Gly234Asp) NC_000008.11:123503460:C:T Identity +NM_001323005.2:c.86G>T NP_001309934.1:p.Trp29Leu NC_000006.12:108295164:G:T p.(Trp29Leu) NC_000006.12:108295164:G:T p.(Trp29Leu) NC_000006.12:108295164:G:T Identity +NM_014808.4:c.2342T>C NP_055623.1:p.Met781Thr NC_000002.12:241484251:T:C p.(Met781Thr) NC_000002.12:241484251:T:C p.(Met781Thr) NC_000002.12:241484251:T:C Identity +NM_001308133.2:c.1876C>T NP_001295062.1:p.Pro626Ser NC_000014.9:45167114:C:T p.(Pro626Ser) NC_000014.9:45167114:C:T p.(Pro626Ser) NC_000014.9:45167114:C:T Identity +NM_001286839.2:c.1460C>T NP_001273768.1:p.Ser487Leu NC_000013.11:98409382:C:T p.(Ser487Leu) NC_000013.11:98409382:C:T p.(Ser487Leu) NC_000013.11:98409382:C:T Identity +NM_001323640.2:c.865G>T NP_001310569.1:p.Ala289Ser NC_000015.10:45403293:G:T p.(Ala289Ser) NC_000015.10:45403293:G:T p.(Ala289Ser) NC_000015.10:45403293:G:T Identity +NM_001008781.3:c.92A>C NP_001008781.2:p.Gln31Pro NC_000011.10:92352203:A:C p.(Gln31Pro) NC_000011.10:92352203:A:C p.(Gln31Pro) NC_000011.10:92352203:A:C Identity +NM_032385.5:c.863G>A NP_115761.2:p.Gly288Glu NC_000005.10:154820454:C:T p.(Gly288Glu) NC_000005.10:154820454:C:T p.(Gly288Glu) NC_000005.10:154820454:C:T Identity +NM_032807.5:c.170G>A NP_116196.3:p.Arg57Gln NC_000010.11:5903034:G:A p.(Arg57Gln) NC_000010.11:5903034:G:A p.(Arg57Gln) NC_000010.11:5903034:G:A Identity +NM_001014765.2:c.515C>T NP_001014765.1:p.Ser172Phe NC_000001.11:11658761:C:T p.(Ser172Phe) NC_000001.11:11658761:C:T p.(Ser172Phe) NC_000001.11:11658761:C:T Identity +NM_001323541.2:c.551C>A NP_001310470.1:p.Pro184His NC_000010.11:101624768:G:T p.(Pro184His) NC_000010.11:101624768:G:T p.(Pro184His) NC_000010.11:101624768:G:T Identity +NM_018998.4:c.592G>A NP_061871.1:p.Glu198Lys NC_000009.12:136942629:C:T p.(Glu198Lys) NC_000009.12:136942629:C:T p.(Glu198Lys) NC_000009.12:136942629:C:T Identity +NM_003890.3:c.12973C>G NP_003881.2:p.Leu4325Val NC_000019.10:39877734:G:C ERR:Validation error: Coordinate out of bounds: index 12988 is beyond transcript length 12834 ERR:Validation error: Transcript position out of exon bounds ERR:c.12973 coordinate is out of bounds ERR:c.12973 coordinate is out of bounds Unknown +NM_001146032.2:c.2300G>A NP_001139504.1:p.Arg767Gln NC_000005.10:73087741:G:A p.(Arg767Gln) NC_000005.10:73087741:G:A p.(Arg767Gln) NC_000005.10:73087741:G:A Identity +NM_001159488.2:c.988A>G NP_001152960.1:p.Ile330Val NC_000001.11:157767404:T:C p.(Ile330Val) NC_000001.11:157767404:T:C p.(Ile330Val) NC_000001.11:157767404:T:C Identity +NM_001293083.2:c.467C>T NP_001280012.1:p.Ala156Val NC_000002.12:96650251:C:T p.(Ala156Val) NC_000002.12:96650251:C:T p.(Ala156Val) NC_000002.12:96650251:C:T Identity +NM_001143783.1:c.1772G>T NP_001137255.1:p.Arg591Leu NC_000015.10:90893314:G:T p.(Arg591Leu) NC_000015.10:90893314:G:T p.(Arg591Leu) NC_000015.10:90893314:G:T Identity +NM_001042548.2:c.13G>T NP_001036013.1:p.Gly5Trp NC_000002.12:36598129:C:A p.(Gly5Trp) NC_000002.12:36598129:C:A p.(Gly5Trp) NC_000002.12:36598129:C:A Identity +NM_173558.4:c.1424C>T NP_775829.2:p.Thr475Met NC_000006.12:37022335:C:T p.(Thr475Met) NC_000006.12:37022335:C:T p.(Thr475Met) NC_000006.12:37022335:C:T Identity +NM_001320276.2:c.1235A>T NP_001307205.1:p.Asp412Val NC_000003.12:14820305:A:T p.(Asp412Val) NC_000003.12:14820305:A:T p.(Asp412Val) NC_000003.12:14820305:A:T Identity +NM_001386094.1:c.1129A>G NP_001373023.1:p.Thr377Ala NC_000015.10:86264299:A:G p.(Thr377Ala) NC_000015.10:86264299:A:G p.(Thr377Ala) NC_000015.10:86264299:A:G Identity +NM_001004356.3:c.1394T>C NP_001004356.1:p.Val465Ala NC_000004.12:1025225:T:C p.(Val465Ala) NC_000004.12:1025225:T:C p.(Val465Ala) NC_000004.12:1025225:T:C Identity +NM_001004356.3:c.437G>A NP_001004356.1:p.Arg146Gln NC_000004.12:1023819:G:A p.(Arg146Gln) NC_000004.12:1023819:G:A p.(Arg146Gln) NC_000004.12:1023819:G:A Identity +NM_001371116.1:c.1973C>G NP_001358045.1:p.Ala658Gly NC_000004.12:152975263:C:G p.(Ala658Gly) NC_000004.12:152975263:C:G p.(Ala658Gly) NC_000004.12:152975263:C:G Identity +NM_001145106.2:c.698G>A NP_001138578.1:p.Arg233Gln NC_000009.12:130924250:C:T p.(Arg233Gln) NC_000009.12:130924250:C:T p.(Arg233Gln) NC_000009.12:130924250:C:T Identity +NM_004214.5:c.712A>C NP_004205.2:p.Lys238Gln NC_000011.10:65885120:T:G p.(Lys238Gln) NC_000011.10:65885120:T:G p.(Lys238Gln) NC_000011.10:65885120:T:G Identity +NM_001042459.3:c.1739A>T NP_001035924.1:p.Asp580Val NC_000003.12:99849936:T:A p.(Asp580Val) NC_000003.12:99849936:T:A p.(Asp580Val) NC_000003.12:99849936:T:A Identity +NM_001163499.2:c.848C>T NP_001156971.1:p.Ser283Phe NC_000007.14:100594472:C:T p.(Ser283Phe) NC_000007.14:100594472:C:T p.(Ser283Phe) NC_000007.14:100594472:C:T Identity +NM_001037131.3:c.815G>T NP_001032208.1:p.Gly272Val NC_000002.12:235799379:G:T p.(Gly272Val) NC_000002.12:235799379:G:T p.(Gly272Val) NC_000002.12:235799379:G:T Identity +NM_001242463.2:c.566G>A NP_001229392.1:p.Arg189Gln NC_000008.11:123504736:C:T p.(Arg189Gln) NC_000008.11:123504736:C:T p.(Arg189Gln) NC_000008.11:123504736:C:T Identity +NM_174899.5:c.140G>A NP_777559.3:p.Arg47Gln NC_000002.12:229976283:G:A p.(Arg47Gln) NC_000002.12:229976283:G:A p.(Arg47Gln) NC_000002.12:229976283:G:A Identity +NM_153230.3:c.791A>G NP_694962.1:p.His264Arg NC_000017.11:6780658:A:G p.(His264Arg) NC_000017.11:6780658:A:G p.(His264Arg) NC_000017.11:6780658:A:G Identity +NM_153230.3:c.866T>C NP_694962.1:p.Phe289Ser NC_000017.11:6780733:T:C p.(Phe289Ser) NC_000017.11:6780733:T:C p.(Phe289Ser) NC_000017.11:6780733:T:C Identity +NM_005245.4:c.5821A>G NP_005236.2:p.Thr1941Ala NC_000004.12:186620764:T:C p.(Thr1941Ala) NC_000004.12:186620764:T:C p.(Thr1941Ala) NC_000004.12:186620764:T:C Identity +NM_001010982.5:c.713G>A NP_001010982.2:p.Arg238His NC_000017.11:78205670:G:A p.(Arg238His) NC_000017.11:78205670:G:A p.(Arg238His) NC_000017.11:78205670:G:A Identity +NM_001145775.3:c.724A>G NP_001139247.1:p.Ile242Val NC_000006.12:35591161:T:C p.(Ile242Val) NC_000006.12:35591161:T:C p.(Ile242Val) NC_000006.12:35591161:T:C Identity +NM_001127391.3:c.865A>G NP_001120863.1:p.Ile289Val NC_000002.12:201307532:T:C p.(Ile289Val) NC_000002.12:201307532:T:C p.(Ile289Val) NC_000002.12:201307532:T:C Identity +NM_002016.2:c.2626T>C NP_002007.1:p.Ser876Pro NC_000001.11:152312259:A:G p.(Ser876Pro) NC_000001.11:152312259:A:G p.(Ser876Pro) NC_000001.11:152312259:A:G Identity +NM_006076.5:c.1259C>T NP_006067.3:p.Pro420Leu NC_000007.14:100563920:C:T p.(Pro420Leu) NC_000007.14:100563920:C:T p.(Pro420Leu) NC_000007.14:100563920:C:T Identity +NM_002016.2:c.4412A>G NP_002007.1:p.Glu1471Gly NC_000001.11:152310473:T:C p.(Glu1471Gly) NC_000001.11:152310473:T:C p.(Glu1471Gly) NC_000001.11:152310473:T:C Identity +NM_002016.2:c.5522C>T NP_002007.1:p.Ser1841Phe NC_000001.11:152309363:G:A p.(Ser1841Phe) NC_000001.11:152309363:G:A p.(Ser1841Phe) NC_000001.11:152309363:G:A Identity +NM_002016.2:c.5582C>G NP_002007.1:p.Ser1861Cys NC_000001.11:152309303:G:C p.(Ser1861Cys) NC_000001.11:152309303:G:C p.(Ser1861Cys) NC_000001.11:152309303:G:C Identity +NM_002016.2:c.6497C>T NP_002007.1:p.Ser2166Phe NC_000001.11:152308388:G:A p.(Ser2166Phe) NC_000001.11:152308388:G:A p.(Ser2166Phe) NC_000001.11:152308388:G:A Identity +NM_002016.2:c.7834G>T NP_002007.1:p.Asp2612Tyr NC_000001.11:152307051:C:A p.(Asp2612Tyr) NC_000001.11:152307051:C:A p.(Asp2612Tyr) NC_000001.11:152307051:C:A Identity +NM_001014342.3:c.5191T>G NP_001014364.1:p.Tyr1731Asp NC_000001.11:152352594:A:C p.(Tyr1731Asp) NC_000001.11:152352594:A:C p.(Tyr1731Asp) NC_000001.11:152352594:A:C Identity +NM_001256264.2:c.1619G>A NP_001243193.1:p.Gly540Glu NC_000017.11:18250961:C:T p.(Gly540Glu) NC_000017.11:18250961:C:T p.(Gly540Glu) NC_000017.11:18250961:C:T Identity +NM_001308068.2:c.1535C>T NP_001294997.1:p.Thr512Met NC_000016.10:2937141:C:T p.(Thr512Met) NC_000016.10:2937141:C:T p.(Thr512Met) NC_000016.10:2937141:C:T Identity +NM_001305424.2:c.3758T>C NP_001292353.1:p.Val1253Ala NC_000001.11:240208557:T:C p.(Val1253Ala) NC_000001.11:240208557:T:C p.(Val1253Ala) NC_000001.11:240208557:T:C Identity +NM_001301347.2:c.321T>G NP_001288276.1:p.Phe107Leu NC_000001.11:171205431:T:G p.(Phe107Leu) NC_000001.11:171205431:T:G p.(Phe107Leu) NC_000001.11:171205431:T:G Identity +NM_001004320.2:c.1328C>G NP_001004320.1:p.Pro443Arg NC_000007.14:15201294:G:C p.(Pro443Arg) NC_000007.14:15201294:G:C p.(Pro443Arg) NC_000007.14:15201294:G:C Identity +NM_004474.4:c.125G>A NP_004465.3:p.Arg42His NC_000001.11:47438259:G:A p.(Arg42His) NC_000001.11:47438259:G:A p.(Arg42His) NC_000001.11:47438259:G:A Identity +NM_001243088.2:c.1286T>C NP_001230017.1:p.Leu429Pro NC_000012.12:2859598:A:G p.(Leu429Pro) NC_000012.12:2859598:A:G p.(Leu429Pro) NC_000012.12:2859598:A:G Identity +NM_001012426.2:c.2013G>C NP_001012426.1:p.Glu671Asp NC_000006.12:41598905:G:C p.(Glu671Asp) NC_000006.12:41598905:G:C p.(Glu671Asp) NC_000006.12:41598905:G:C Identity +NM_004118.4:c.197T>G NP_004109.1:p.Ile66Ser NC_000020.11:31845345:A:C p.(Ile66Ser) NC_000020.11:31845345:A:C p.(Ile66Ser) NC_000020.11:31845345:A:C Identity +NM_001258452.2:c.916G>A NP_001245381.1:p.Val306Ile NC_000010.11:5911054:G:A p.(Val306Ile) NC_000010.11:5911054:G:A p.(Val306Ile) NC_000010.11:5911054:G:A Identity +NM_001321431.2:c.7843G>A NP_001308360.1:p.Ala2615Thr NC_000019.10:8073156:C:T p.(Ala2615Thr) NC_000019.10:8073156:C:T p.(Ala2615Thr) NC_000019.10:8073156:C:T Identity +NM_001080410.4:c.1211C>G NP_001073879.2:p.Ser404Cys NC_000002.12:73265634:G:C p.(Ser404Cys) NC_000002.12:73265634:G:C p.(Ser404Cys) NC_000002.12:73265634:G:C Identity +NM_001323541.2:c.668G>A NP_001310470.1:p.Cys223Tyr NC_000010.11:101612384:C:T p.(Cys223Tyr) NC_000010.11:101612384:C:T p.(Cys223Tyr) NC_000010.11:101612384:C:T Identity +NM_003890.3:c.12376C>T NP_003881.2:p.Arg4126Trp NC_000019.10:39879649:G:A ERR:TranscriptMismatch:expected C, found A at transcript indices 12391..12392 NC_000019.10:39863888:T:A ERR:NM_003890.3:c.12376C>T: Variant reference (C) does not agree with reference sequence (A) ERR:NM_003890.3:c.12376C>T: Variant reference (C) does not agree with reference sequence (A) Unknown +NM_001161357.2:c.481A>T NP_001154829.1:p.Met161Leu NC_000019.10:17770568:A:T p.(Met161Leu) NC_000019.10:17770568:A:T p.(Met161Leu) NC_000019.10:17770568:A:T Identity +NM_033449.3:c.1568A>C NP_258260.1:p.Tyr523Ser NC_000005.10:141644646:T:G p.(Tyr523Ser) NC_000005.10:141644646:T:G p.(Tyr523Ser) NC_000005.10:141644646:T:G Identity +NM_001193338.2:c.91G>C NP_001180267.1:p.Gly31Arg NC_000001.11:206914040:C:G p.(Gly31Arg) NC_000001.11:206914040:C:G p.(Gly31Arg) NC_000001.11:206914040:C:G Identity +NM_001163315.3:c.725C>T NP_001156787.2:p.Pro242Leu NC_000005.10:108380966:G:A p.(Pro242Leu) NC_000005.10:108380966:G:A p.(Pro242Leu) NC_000005.10:108380966:G:A Identity +NM_003890.3:c.15713C>T NP_003881.2:p.Ser5238Phe NC_000019.10:39866959:G:A ERR:Validation error: Coordinate out of bounds: index 15728 is beyond transcript length 12834 ERR:Validation error: Transcript position out of exon bounds ERR:c.15713 coordinate is out of bounds ERR:c.15713 coordinate is out of bounds Unknown +NM_001159488.2:c.1232T>A NP_001152960.1:p.Phe411Tyr NC_000001.11:157766901:A:T p.(Phe411Tyr) NC_000001.11:157766901:A:T p.(Phe411Tyr) NC_000001.11:157766901:A:T Identity +NM_145059.3:c.1720A>C NP_659496.2:p.Ile574Leu NC_000016.10:70473295:A:C p.(Ile574Leu) NC_000016.10:70473295:A:C p.(Ile574Leu) NC_000016.10:70473295:A:C Identity +NM_001166133.2:c.1493C>T NP_001159605.1:p.Thr498Ile NC_000004.12:78286497:C:T p.(Thr498Ile) NC_000004.12:78286497:C:T p.(Thr498Ile) NC_000004.12:78286497:C:T Identity +NM_025074.7:c.6941T>C NP_079350.5:p.Val2314Ala NC_000004.12:78464494:T:C p.(Val2314Ala) NC_000004.12:78464494:T:C p.(Val2314Ala) NC_000004.12:78464494:T:C Identity +NM_207361.6:c.5611G>A NP_997244.4:p.Ala1871Thr NC_000013.11:38769777:G:A p.(Ala1871Thr) NC_000013.11:38769777:G:A p.(Ala1871Thr) NC_000013.11:38769777:G:A Identity +NM_001168235.2:c.1436G>C NP_001161707.1:p.Gly479Ala NC_000004.12:143699239:C:G p.(Gly479Ala) NC_000004.12:143699239:C:G p.(Gly479Ala) NC_000004.12:143699239:C:G Identity +NM_024919.6:c.190G>C NP_079195.3:p.Glu64Gln NC_000006.12:168078904:C:G p.(Glu64Gln) NC_000006.12:168078904:C:G p.(Glu64Gln) NC_000006.12:168078904:C:G Identity +NM_001142522.3:c.766G>C NP_001135994.1:p.Val256Leu NC_000006.12:152973050:C:G p.(Val256Leu) NC_000006.12:152973050:C:G p.(Val256Leu) NC_000006.12:152973050:C:G Identity +NM_012174.2:c.395G>A NP_036306.1:p.Arg132His NC_000012.12:116949621:G:A p.(Arg132His) NC_000012.12:116949621:G:A p.(Arg132His) NC_000012.12:116949621:G:A Identity +NM_001144000.4:c.1525C>G NP_001137472.1:p.Leu509Val NC_000010.11:73675134:G:C p.(Leu509Val) NC_000010.11:73675134:G:C p.(Leu509Val) NC_000010.11:73675134:G:C Identity +NM_152701.5:c.9994C>A NP_689914.3:p.Gln3332Lys NC_000007.14:48317290:C:A p.(Gln3332Lys) NC_000007.14:48317290:C:A p.(Gln3332Lys) NC_000007.14:48317290:C:A Identity +NM_001018071.4:c.1403T>C NP_001018081.4:p.Leu468Pro NC_000010.11:48222364:A:G p.(Leu468Pro) NC_000010.11:48222364:A:G p.(Leu468Pro) NC_000010.11:48222364:A:G Identity +NM_001193338.2:c.248G>A NP_001180267.1:p.Arg83His NC_000001.11:206913883:C:T p.(Arg83His) NC_000001.11:206913883:C:T p.(Arg83His) NC_000001.11:206913883:C:T Identity +NM_145059.3:c.2059A>G NP_659496.2:p.Met687Val NC_000016.10:70474597:A:G p.(Met687Val) NC_000016.10:70474597:A:G p.(Met687Val) NC_000016.10:70474597:A:G Identity +NM_015030.2:c.4840G>T NP_055845.1:p.Val1614Leu NC_000004.12:48548737:C:A p.(Val1614Leu) NC_000004.12:48548737:C:A p.(Val1614Leu) NC_000004.12:48548737:C:A Identity +NM_001291980.2:c.260A>T NP_001278909.1:p.Glu87Val NC_000005.10:177090557:A:T p.(Glu87Val) NC_000005.10:177090557:A:T p.(Glu87Val) NC_000005.10:177090557:A:T Identity +NM_018351.4:c.2617C>T NP_060821.3:p.His873Tyr NC_000012.12:95152962:G:A p.(His873Tyr) NC_000012.12:95152962:G:A p.(His873Tyr) NC_000012.12:95152962:G:A Identity +NM_015082.2:c.2096G>A NP_055897.1:p.Arg699His NC_000005.10:133199527:C:T p.(Arg699His) NC_000005.10:133199527:C:T p.(Arg699His) NC_000005.10:133199527:C:T Identity +NM_001042729.2:c.125G>A NP_001036194.1:p.Arg42Gln NC_000001.11:27623791:C:T p.(Arg42Gln) NC_000001.11:27623791:C:T p.(Arg42Gln) NC_000001.11:27623791:C:T Identity +NM_001391957.1:c.2503A>T NP_001378886.1:p.Met835Leu NC_000001.11:15352924:A:T p.(Met835Leu) NC_000001.11:15352924:A:T p.(Met835Leu) NC_000001.11:15352924:A:T Identity +NM_001354250.2:c.2017C>G NP_001341179.1:p.Gln673Glu NC_000008.11:22102554:C:G p.(Gln673Glu) NC_000008.11:22102554:C:G p.(Gln673Glu) NC_000008.11:22102554:C:G Identity +NM_001039112.2:c.1109C>T NP_001034201.2:p.Ser370Leu NC_000008.11:123980509:C:T p.(Ser370Leu) NC_000008.11:123980509:C:T p.(Ser370Leu) NC_000008.11:123980509:C:T Identity +NM_001039112.2:c.3374G>A NP_001034201.2:p.Ser1125Asn NC_000008.11:124064391:G:A p.(Ser1125Asn) NC_000008.11:124064391:G:A p.(Ser1125Asn) NC_000008.11:124064391:G:A Identity +NM_005304.5:c.337C>T NP_005295.1:p.Arg113Cys NC_000019.10:35359226:C:T p.(Arg113Cys) NC_000019.10:35359226:C:T p.(Arg113Cys) NC_000019.10:35359226:C:T Identity +NM_004860.4:c.1682A>G NP_004851.2:p.Asp561Gly NC_000017.11:7592740:T:C p.(Asp561Gly) NC_000017.11:7592740:T:C p.(Asp561Gly) NC_000017.11:7592740:T:C Identity +NM_001243093.2:c.844G>T NP_001230022.1:p.Gly282Cys NC_000005.10:39202146:C:A p.(Gly282Cys) NC_000005.10:39202146:C:A p.(Gly282Cys) NC_000005.10:39202146:C:A Identity +NM_003508.3:c.965A>G NP_003499.1:p.Tyr322Cys NC_000007.14:73434971:A:G p.(Tyr322Cys) NC_000007.14:73434971:A:G p.(Tyr322Cys) NC_000007.14:73434971:A:G Identity +NM_001136197.1:c.160G>A NP_001129669.1:p.Gly54Arg NC_000019.10:3525957:G:A p.(Gly54Arg) NC_000019.10:3525957:G:A p.(Gly54Arg) NC_000019.10:3525957:G:A Identity +NM_001371116.1:c.3416A>G NP_001358045.1:p.Asn1139Ser NC_000004.12:152976706:A:G p.(Asn1139Ser) NC_000004.12:152976706:A:G p.(Asn1139Ser) NC_000004.12:152976706:A:G Identity +NM_001109977.3:c.2629G>A NP_001103447.1:p.Gly877Arg NC_000004.12:151656308:G:A p.(Gly877Arg) NC_000004.12:151656308:G:A p.(Gly877Arg) NC_000004.12:151656308:G:A Identity +NM_001109977.3:c.718A>G NP_001103447.1:p.Thr240Ala NC_000004.12:151578061:A:G p.(Thr240Ala) NC_000004.12:151578061:A:G p.(Thr240Ala) NC_000004.12:151578061:A:G Identity +NM_001354250.2:c.136C>T NP_001341179.1:p.Pro46Ser NC_000008.11:22096347:C:T p.(Pro46Ser) NC_000008.11:22096347:C:T p.(Pro46Ser) NC_000008.11:22096347:C:T Identity +NM_001354250.2:c.2119G>A NP_001341179.1:p.Val707Met NC_000008.11:22102820:G:A p.(Val707Met) NC_000008.11:22102820:G:A p.(Val707Met) NC_000008.11:22102820:G:A Identity +NM_007076.3:c.83C>T NP_009007.2:p.Thr28Met NC_000012.12:108517054:C:T p.(Thr28Met) NC_000012.12:108517054:C:T p.(Thr28Met) NC_000012.12:108517054:C:T Identity +NM_032836.3:c.598T>C NP_116225.2:p.Phe200Leu NC_000019.10:55593342:A:G p.(Phe200Leu) NC_000019.10:55593342:A:G p.(Phe200Leu) NC_000019.10:55593342:A:G Identity +NM_002043.5:c.406C>G NP_002034.3:p.Pro136Ala NC_000006.12:89269116:G:C p.(Pro136Ala) NC_000006.12:89269116:G:C p.(Pro136Ala) NC_000006.12:89269116:G:C Identity +NM_001323342.2:c.775C>A NP_001310271.1:p.Gln259Lys NC_000001.11:246905646:G:T p.(Gln259Lys) NC_000001.11:246905646:G:T p.(Gln259Lys) NC_000001.11:246905646:G:T Identity +NM_001127391.3:c.1184G>A NP_001120863.1:p.Cys395Tyr NC_000002.12:201288739:C:T p.(Cys395Tyr) NC_000002.12:201288739:C:T p.(Cys395Tyr) NC_000002.12:201288739:C:T Identity +NM_002016.2:c.11217C>G NP_002007.1:p.His3739Gln NC_000001.11:152303668:G:C p.(His3739Gln) NC_000001.11:152303668:G:C p.(His3739Gln) NC_000001.11:152303668:G:C Identity +NM_024642.5:c.847C>G NP_078918.3:p.Leu283Val NC_000009.12:98831886:C:G p.(Leu283Val) NC_000009.12:98831886:C:G p.(Leu283Val) NC_000009.12:98831886:C:G Identity +NM_001168368.2:c.1639G>A NP_001161840.1:p.Ala547Thr NC_000014.9:69352129:G:A p.(Ala547Thr) NC_000014.9:69352129:G:A p.(Ala547Thr) NC_000014.9:69352129:G:A Identity +NM_004482.4:c.1658G>A NP_004473.2:p.Arg553Gln NC_000002.12:165749862:C:T p.(Arg553Gln) NC_000002.12:165749862:C:T p.(Arg553Gln) NC_000002.12:165749862:C:T Identity +NM_001320276.2:c.668G>C NP_001307205.1:p.Ser223Thr NC_000003.12:14819738:G:C p.(Ser223Thr) NC_000003.12:14819738:G:C p.(Ser223Thr) NC_000003.12:14819738:G:C Identity +NM_018351.4:c.3196A>G NP_060821.3:p.Asn1066Asp NC_000012.12:95108415:T:C p.(Asn1066Asp) NC_000012.12:95108415:T:C p.(Asn1066Asp) NC_000012.12:95108415:T:C Identity +NM_152336.4:c.3050G>A NP_689549.3:p.Gly1017Asp NC_000015.10:86556277:G:A p.(Gly1017Asp) NC_000015.10:86556277:G:A p.(Gly1017Asp) NC_000015.10:86556277:G:A Identity +NM_001127391.3:c.875A>T NP_001120863.1:p.Lys292Met NC_000002.12:201307522:T:A p.(Lys292Met) NC_000002.12:201307522:T:A p.(Lys292Met) NC_000002.12:201307522:T:A Identity +NM_001411042.1:c.3412G>T NP_001397971.1:p.Val1138Leu NC_000009.12:137015773:C:A p.(Val1138Leu) NC_000009.12:137015773:C:A p.(Val1138Leu) NC_000009.12:137015773:C:A Identity +NM_002016.2:c.5460C>G NP_002007.1:p.Ser1820Arg NC_000001.11:152309425:G:C p.(Ser1820Arg) NC_000001.11:152309425:G:C p.(Ser1820Arg) NC_000001.11:152309425:G:C Identity +NM_002016.2:c.5968G>A NP_002007.1:p.Ala1990Thr NC_000001.11:152308917:C:T p.(Ala1990Thr) NC_000001.11:152308917:C:T p.(Ala1990Thr) NC_000001.11:152308917:C:T Identity +NM_001014342.3:c.3365C>T NP_001014364.1:p.Ser1122Leu NC_000001.11:152354420:G:A p.(Ser1122Leu) NC_000001.11:152354420:G:A p.(Ser1122Leu) NC_000001.11:152354420:G:A Identity +NM_145292.4:c.1121G>A NP_660335.2:p.Ser374Asn NC_000007.14:152014737:G:A p.(Ser374Asn) NC_000007.14:152014737:G:A p.(Ser374Asn) NC_000007.14:152014737:G:A Identity +NM_014364.5:c.1208T>A NP_055179.1:p.Met403Lys NC_000019.10:35545150:T:A p.(Met403Lys) NC_000019.10:35545150:T:A p.(Met403Lys) NC_000019.10:35545150:T:A Identity +NM_001395907.1:c.233G>C NP_001382836.1:p.Ser78Thr NC_000014.9:67203166:G:C p.(Ser78Thr) NC_000014.9:67203166:G:C p.(Ser78Thr) NC_000014.9:67203166:G:C Identity +NM_001301347.2:c.467G>A NP_001288276.1:p.Gly156Asp NC_000001.11:171205577:G:A p.(Gly156Asp) NC_000001.11:171205577:G:A p.(Gly156Asp) NC_000001.11:171205577:G:A Identity +NM_002022.3:c.1658T>G NP_002013.1:p.Val553Gly NC_000001.11:171341819:T:G p.(Val553Gly) NC_000001.11:171341819:T:G p.(Val553Gly) NC_000001.11:171341819:T:G Identity +NM_000028.3:c.838C>T NP_000019.2:p.His280Tyr NC_000001.11:99870572:C:T p.(His280Tyr) NC_000001.11:99870572:C:T p.(His280Tyr) NC_000001.11:99870572:C:T Identity +NM_001113411.2:c.1637A>G NP_001106882.1:p.Gln546Arg NC_000001.11:59757982:A:G p.(Gln546Arg) NC_000001.11:59757982:A:G p.(Gln546Arg) NC_000001.11:59757982:A:G Identity +NM_001145402.2:c.2251A>C NP_001138874.1:p.Lys751Gln NC_000019.10:55358616:T:G p.(Lys751Gln) NC_000019.10:55358616:T:G p.(Lys751Gln) NC_000019.10:55358616:T:G Identity +NM_153364.4:c.575T>C NP_699195.1:p.Leu192Ser NC_000012.12:99648748:T:C p.(Leu192Ser) NC_000012.12:99648748:T:C p.(Leu192Ser) NC_000012.12:99648748:T:C Identity +NM_001278730.2:c.940C>T NP_001265659.1:p.Arg314Trp NC_000022.11:29310927:C:T p.(Arg314Trp) NC_000022.11:29310927:C:T p.(Arg314Trp) NC_000022.11:29310927:C:T Identity +NM_001301347.2:c.385A>G NP_001288276.1:p.Met129Val NC_000001.11:171205495:A:G p.(Met129Val) NC_000001.11:171205495:A:G p.(Met129Val) NC_000001.11:171205495:A:G Identity +NM_032532.3:c.3911A>G NP_115921.2:p.His1304Arg NC_000006.12:159234422:A:G p.(His1304Arg) NC_000006.12:159234422:A:G p.(His1304Arg) NC_000006.12:159234422:A:G Identity +NM_001323573.2:c.1078C>T NP_001310502.1:p.Arg360Trp NC_000001.11:48590894:G:A p.(Arg360Trp) NC_000001.11:48590894:G:A p.(Arg360Trp) NC_000001.11:48590894:G:A Identity +NM_203402.3:c.604G>A NP_981947.1:p.Ala202Thr NC_000014.9:24132547:G:A p.(Ala202Thr) NC_000014.9:24132547:G:A p.(Ala202Thr) NC_000014.9:24132547:G:A Identity +NM_001375567.1:c.2689A>G NP_001362496.1:p.Met897Val NC_000009.12:20907212:A:G p.(Met897Val) NC_000009.12:20907212:A:G p.(Met897Val) NC_000009.12:20907212:A:G Identity +NM_001363341.2:c.257A>C NP_001350270.1:p.Gln86Pro NC_000004.12:151758841:T:G p.(Gln86Pro) NC_000004.12:151758841:T:G p.(Gln86Pro) NC_000004.12:151758841:T:G Identity +NM_001318818.2:c.157A>G NP_001305747.1:p.Ser53Gly NC_000011.10:773569:T:C p.(Ser53Gly) NC_000011.10:773569:T:C p.(Ser53Gly) NC_000011.10:773569:T:C Identity +NM_012188.5:c.683C>T NP_036320.2:p.Ser228Phe NC_000005.10:170108156:C:T p.(Ser228Phe) NC_000005.10:170108156:C:T p.(Ser228Phe) NC_000005.10:170108156:C:T Identity +NM_001300844.2:c.181C>A NP_001287773.1:p.Pro61Thr NC_000011.10:65896924:G:T p.(Pro61Thr) NC_000011.10:65896924:G:T p.(Pro61Thr) NC_000011.10:65896924:G:T Identity +NM_001171690.2:c.1037T>G NP_001165161.1:p.Val346Gly NC_000022.11:37815806:T:G p.(Val346Gly) NC_000022.11:37815806:T:G p.(Val346Gly) NC_000022.11:37815806:T:G Identity +NM_052957.5:c.1833C>A NP_443189.1:p.Asp611Glu NC_000023.11:71612436:C:A p.(Asp611Glu) NC_000023.11:71612436:C:A p.(Asp611Glu) NC_000023.11:71612436:C:A Identity +NM_001040061.3:c.321C>A NP_001035150.1:p.Ser107Arg NC_000003.12:138950364:C:A p.(Ser107Arg) NC_000003.12:138950364:C:A p.(Ser107Arg) NC_000003.12:138950364:C:A Identity +NM_001375442.1:c.28G>C NP_001362371.1:p.Asp10His NC_000002.12:48346241:G:C p.(Asp10His) NC_000002.12:48346241:G:C p.(Asp10His) NC_000002.12:48346241:G:C Identity +NM_001172766.3:c.106T>C NP_001166237.1:p.Ser36Pro NC_000007.14:114426616:T:C p.(Ser36Pro) NC_000007.14:114426616:T:C p.(Ser36Pro) NC_000007.14:114426616:T:C Identity +NM_198451.4:c.365G>C NP_940853.1:p.Cys122Ser NC_000023.11:55624075:G:C p.(Cys122Ser) NC_000023.11:55624075:G:C p.(Cys122Ser) NC_000023.11:55624075:G:C Identity +NM_001171191.2:c.764C>T NP_001164662.1:p.Thr255Met NC_000023.11:70429556:C:T p.(Thr255Met) NC_000023.11:70429556:C:T p.(Thr255Met) NC_000023.11:70429556:C:T Identity +NM_001346445.2:c.17341A>G NP_001333374.1:p.Asn5781Asp NC_000011.10:62517075:T:C p.(Asn5781Asp) NC_000011.10:62517075:T:C p.(Asn5781Asp) NC_000011.10:62517075:T:C Identity +NM_001009182.2:c.239C>A NP_001009182.2:p.Pro80His NC_000014.9:39118014:C:A p.(Pro80His) NC_000014.9:39118014:C:A p.(Pro80His) NC_000014.9:39118014:C:A Identity +NM_015721.3:c.980G>T NP_056536.2:p.Trp327Leu NC_000017.11:747062:C:A p.(Trp327Leu) NC_000017.11:747062:C:A p.(Trp327Leu) NC_000017.11:747062:C:A Identity +NM_001184891.2:c.128G>A NP_001171820.1:p.Arg43His NC_000001.11:154988150:G:A p.(Arg43His) NC_000001.11:154988150:G:A p.(Arg43His) NC_000001.11:154988150:G:A Identity +NM_002016.2:c.10208C>T NP_002007.1:p.Thr3403Ile NC_000001.11:152304677:G:A p.(Thr3403Ile) NC_000001.11:152304677:G:A p.(Thr3403Ile) NC_000001.11:152304677:G:A Identity +NM_005262.3:c.378G>T NP_005253.3:p.Gln126His NC_000016.10:1984865:G:T p.(Gln126His) NC_000016.10:1984865:G:T p.(Gln126His) NC_000016.10:1984865:G:T Identity +NM_001001560.3:c.457G>A NP_001001560.1:p.Asp153Asn NC_000022.11:37620841:G:A p.(Asp153Asn) NC_000022.11:37620841:G:A p.(Asp153Asn) NC_000022.11:37620841:G:A Identity +NM_012083.3:c.305C>T NP_036215.1:p.Thr102Met NC_000010.11:97334267:G:A p.(Thr102Met) NC_000010.11:97334267:G:A p.(Thr102Met) NC_000010.11:97334267:G:A Identity +NM_001168235.2:c.2867C>T NP_001161707.1:p.Ser956Phe NC_000004.12:143697808:G:A p.(Ser956Phe) NC_000004.12:143697808:G:A p.(Ser956Phe) NC_000004.12:143697808:G:A Identity +NM_015123.3:c.1093G>T NP_055938.2:p.Ala365Ser NC_000003.12:69196395:C:A p.(Ala365Ser) NC_000003.12:69196395:C:A p.(Ala365Ser) NC_000003.12:69196395:C:A Identity +NM_001305275.2:c.4729C>G NP_001292204.1:p.Pro1577Ala NC_000001.11:1049779:C:G p.(Pro1577Ala) NC_000001.11:1049779:C:G p.(Pro1577Ala) NC_000001.11:1049779:C:G Identity +NM_001411012.1:c.5407G>A NP_001397941.1:p.Ala1803Thr NC_000013.11:32231179:G:A p.(Ala1803Thr) NC_000013.11:32231179:G:A p.(Ala1803Thr) NC_000013.11:32231179:G:A Identity +NM_015030.2:c.7540A>G NP_055845.1:p.Thr2514Ala NC_000004.12:48521196:T:C p.(Thr2514Ala) NC_000004.12:48521196:T:C p.(Thr2514Ala) NC_000004.12:48521196:T:C Identity +NM_002019.4:c.3471G>C NP_002010.2:p.Leu1157Phe NC_000013.11:28312013:C:G p.(Leu1157Phe) NC_000013.11:28312013:C:G p.(Leu1157Phe) NC_000013.11:28312013:C:G Identity +NM_001318336.2:c.851A>G NP_001305265.1:p.Lys284Arg NC_000010.11:13707069:T:C p.(Lys284Arg) NC_000010.11:13707069:T:C p.(Lys284Arg) NC_000010.11:13707069:T:C Identity +NM_015123.3:c.356G>A NP_055938.2:p.Arg119Gln NC_000003.12:69302402:C:T p.(Arg119Gln) NC_000003.12:69302402:C:T p.(Arg119Gln) NC_000003.12:69302402:C:T Identity +NM_001371223.1:c.2840G>A NP_001358152.1:p.Arg947Gln NC_000009.12:37744871:G:A p.(Arg947Gln) NC_000009.12:37744871:G:A p.(Arg947Gln) NC_000009.12:37744871:G:A Identity +NM_001371223.1:c.392T>A NP_001358152.1:p.Val131Asp NC_000009.12:37711378:T:A p.(Val131Asp) NC_000009.12:37711378:T:A p.(Val131Asp) NC_000009.12:37711378:T:A Identity +NM_015030.2:c.4930C>T NP_055845.1:p.Arg1644Cys NC_000004.12:48547727:G:A p.(Arg1644Cys) NC_000004.12:48547727:G:A p.(Arg1644Cys) NC_000004.12:48547727:G:A Identity +NM_015030.2:c.5804G>A NP_055845.1:p.Ser1935Asn NC_000004.12:48540843:C:T p.(Ser1935Asn) NC_000004.12:48540843:C:T p.(Ser1935Asn) NC_000004.12:48540843:C:T Identity +NM_001288833.2:c.728C>T NP_001275762.1:p.Ala243Val NC_000022.11:24621064:C:T p.(Ala243Val) NC_000022.11:24621064:C:T p.(Ala243Val) NC_000022.11:24621064:C:T Identity +NM_001136048.1:c.700C>T NP_001129520.1:p.Arg234Cys NC_000017.11:42192429:G:A ERR:Data provider error: ValueError: Transcript NM_001136048.1 not found ERR:Data provider error: ValueError: Transcript NM_001136048.1 not found ERR:AlignmentMapper(tx_ac=NM_001136048.1, alt_ac=NM_001136048.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001136048.1, alt_ac=NM_001136048.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001136048.1 not found +NM_001375759.1:c.2635C>T NP_001362688.1:p.Arg879Cys NC_000007.14:100682447:G:A p.(Arg879Cys) NC_000007.14:100682447:G:A p.(Arg879Cys) NC_000007.14:100682447:G:A Identity +NM_001308068.2:c.2043G>C NP_001294997.1:p.Glu681Asp NC_000016.10:2938448:G:C p.(Glu681Asp) NC_000016.10:2938448:G:C p.(Glu681Asp) NC_000016.10:2938448:G:C Identity +NM_001142499.1:c.344G>A NP_001135971.1:p.Ser115Asn NC_000016.10:2899069:G:A p.(Ser115Asn) NC_000016.10:2899069:G:A p.(Ser115Asn) NC_000016.10:2899069:G:A Identity +NM_001301347.2:c.77T>C NP_001288276.1:p.Val26Ala NC_000001.11:171203973:T:C p.(Val26Ala) NC_000001.11:171203973:T:C p.(Val26Ala) NC_000001.11:171203973:T:C Identity +NM_001306129.2:c.2126A>C NP_001293058.2:p.Asn709Thr NC_000002.12:215409735:T:G p.(Asn709Thr) NC_000002.12:215409735:T:G p.(Asn709Thr) NC_000002.12:215409735:T:G Identity +NM_173651.4:c.8431C>A NP_775922.3:p.Leu2811Ile NC_000002.12:185795566:C:A p.(Leu2811Ile) NC_000002.12:185795566:C:A p.(Leu2811Ile) NC_000002.12:185795566:C:A Identity +NM_002060.3:c.82G>T NP_002051.2:p.Val28Leu NC_000001.11:34794294:G:T p.(Val28Leu) NC_000001.11:34794294:G:T p.(Val28Leu) NC_000001.11:34794294:G:T Identity +NM_001305275.2:c.6068C>T NP_001292204.1:p.Pro2023Leu NC_000001.11:1054841:C:T p.(Pro2023Leu) NC_000001.11:1054841:C:T p.(Pro2023Leu) NC_000001.11:1054841:C:T Identity +NM_173651.4:c.13171G>A NP_775922.3:p.Val4391Ile NC_000002.12:185802476:G:A p.(Val4391Ile) NC_000002.12:185802476:G:A p.(Val4391Ile) NC_000002.12:185802476:G:A Identity +NM_173651.4:c.14744A>C NP_775922.3:p.Asp4915Ala NC_000002.12:185804049:A:C p.(Asp4915Ala) NC_000002.12:185804049:A:C p.(Asp4915Ala) NC_000002.12:185804049:A:C Identity +NM_173651.4:c.18750A>T NP_775922.3:p.Glu6250Asp NC_000002.12:185808055:A:T p.(Glu6250Asp) NC_000002.12:185808055:A:T p.(Glu6250Asp) NC_000002.12:185808055:A:T Identity +NM_015082.2:c.2429G>T NP_055897.1:p.Arg810Leu NC_000005.10:133199194:C:A p.(Arg810Leu) NC_000005.10:133199194:C:A p.(Arg810Leu) NC_000005.10:133199194:C:A Identity +NM_001128427.3:c.782T>C NP_001121899.1:p.Val261Ala NC_000004.12:161656436:A:G p.(Val261Ala) NC_000004.12:161656436:A:G p.(Val261Ala) NC_000004.12:161656436:A:G Identity +NM_177478.2:c.690T>G NP_803431.1:p.Phe230Leu NC_000005.10:121852652:T:G p.(Phe230Leu) NC_000005.10:121852652:T:G p.(Phe230Leu) NC_000005.10:121852652:T:G Identity +NM_001303433.2:c.561G>T NP_001290362.1:p.Gln187His NC_000001.11:77965206:C:A p.(Gln187His) NC_000001.11:77965206:C:A p.(Gln187His) NC_000001.11:77965206:C:A Identity +NM_002034.2:c.284C>T NP_002025.2:p.Ser95Leu NC_000019.10:5867441:G:A p.(Ser95Leu) NC_000019.10:5867441:G:A p.(Ser95Leu) NC_000019.10:5867441:G:A Identity +NM_024758.5:c.11T>G NP_079034.3:p.Leu4Arg NC_000001.11:15584956:A:C p.(Leu4Arg) NC_000001.11:15584956:A:C p.(Leu4Arg) NC_000001.11:15584956:A:C Identity +NM_001323916.2:c.2534C>T NP_001310845.1:p.Ala845Val NC_000004.12:158869100:C:T p.(Ala845Val) NC_000004.12:158869100:C:T p.(Ala845Val) NC_000004.12:158869100:C:T Identity +NM_000147.5:c.316T>C NP_000138.2:p.Phe106Leu NC_000001.11:23867970:A:G p.(Phe106Leu) NC_000001.11:23867970:A:G p.(Phe106Leu) NC_000001.11:23867970:A:G Identity +NM_001350929.2:c.10403A>C NP_001337858.1:p.Lys3468Thr NC_000014.9:104944747:T:G p.(Lys3468Thr) NC_000014.9:104944747:T:G p.(Lys3468Thr) NC_000014.9:104944747:T:G Identity +NM_152436.3:c.709G>A NP_689649.1:p.Gly237Arg NC_000012.12:75423027:G:A p.(Gly237Arg) NC_000012.12:75423027:G:A p.(Gly237Arg) NC_000012.12:75423027:G:A Identity +NM_031866.3:c.1964G>T NP_114072.1:p.Gly655Val NC_000010.11:35639465:C:A p.(Gly655Val) NC_000010.11:35639465:C:A p.(Gly655Val) NC_000010.11:35639465:C:A Identity +NM_001319053.2:c.1439A>G NP_001305982.1:p.Asn480Ser NC_000006.12:29608622:T:C p.(Asn480Ser) NC_000006.12:29608622:T:C p.(Asn480Ser) NC_000006.12:29608622:T:C Identity +NM_001386421.1:c.1621C>A NP_001373350.1:p.Gln541Lys NC_000003.12:45967712:G:T p.(Gln541Lys) NC_000003.12:45967712:G:T p.(Gln541Lys) NC_000003.12:45967712:G:T Identity +NM_003468.4:c.899G>C NP_003459.2:p.Arg300Pro NC_000002.12:207767840:C:G p.(Arg300Pro) NC_000002.12:207767840:C:G p.(Arg300Pro) NC_000002.12:207767840:C:G Identity +NM_001300844.2:c.317A>T NP_001287773.1:p.Asp106Val NC_000011.10:65893276:T:A p.(Asp106Val) NC_000011.10:65893276:T:A p.(Asp106Val) NC_000011.10:65893276:T:A Identity +NM_001013735.1:c.286A>G NP_001013757.1:p.Met96Val NC_000009.12:77019939:A:G p.(Met96Val) NC_000009.12:77019939:A:G p.(Met96Val) NC_000009.12:77019939:A:G Identity +NM_005251.3:c.608C>A NP_005242.1:p.Ala203Asp NC_000016.10:86567942:C:A p.(Ala203Asp) NC_000016.10:86567942:C:A p.(Ala203Asp) NC_000016.10:86567942:C:A Identity +NM_004473.4:c.1109T>C NP_004464.2:p.Val370Ala NC_000009.12:97855022:T:C p.(Val370Ala) NC_000009.12:97855022:T:C p.(Val370Ala) NC_000009.12:97855022:T:C Identity +NM_001318134.2:c.2982C>G NP_001305063.1:p.Ser994Arg NC_000004.12:859669:G:C p.(Ser994Arg) NC_000004.12:859669:G:C p.(Ser994Arg) NC_000004.12:859669:G:C Identity +NM_022134.3:c.1040C>T NP_071417.2:p.Ala347Val NC_000002.12:241804008:C:T p.(Ala347Val) NC_000002.12:241804008:C:T p.(Ala347Val) NC_000002.12:241804008:C:T Identity +NM_018361.5:c.199G>A NP_060831.2:p.Glu67Lys NC_000008.11:6708866:G:A p.(Glu67Lys) NC_000008.11:6708866:G:A p.(Glu67Lys) NC_000008.11:6708866:G:A Identity +NM_001256604.2:c.784C>G NP_001243533.1:p.Pro262Ala NC_000001.11:156294031:G:C p.(Pro262Ala) NC_000001.11:156294031:G:C p.(Pro262Ala) NC_000001.11:156294031:G:C Identity +NM_004246.3:c.893G>A NP_004237.1:p.Arg298Gln NC_000017.11:9860068:G:A p.(Arg298Gln) NC_000017.11:9860068:G:A p.(Arg298Gln) NC_000017.11:9860068:G:A Identity +NM_001323342.2:c.533A>G NP_001310271.1:p.Asn178Ser NC_000001.11:246913254:T:C p.(Asn178Ser) NC_000001.11:246913254:T:C p.(Asn178Ser) NC_000001.11:246913254:T:C Identity +NM_000154.2:c.827G>A NP_000145.1:p.Arg276Gln NC_000017.11:75758565:C:T p.(Arg276Gln) NC_000017.11:75758565:C:T p.(Arg276Gln) NC_000017.11:75758565:C:T Identity +NM_001130720.3:c.950T>C NP_001124192.1:p.Ile317Thr NC_000007.14:129403412:T:C p.(Ile317Thr) NC_000007.14:129403412:T:C p.(Ile317Thr) NC_000007.14:129403412:T:C Identity +NM_001319051.2:c.625C>T NP_001305980.1:p.Arg209Trp NC_000003.12:16195844:C:T p.(Arg209Trp) NC_000003.12:16195844:C:T p.(Arg209Trp) NC_000003.12:16195844:C:T Identity +NM_001199781.2:c.1323G>T NP_001186710.1:p.Trp441Cys NC_000012.12:89523217:C:A p.(Trp441Cys) NC_000012.12:89523217:C:A p.(Trp441Cys) NC_000012.12:89523217:C:A Identity +NM_007210.4:c.416A>G NP_009141.2:p.Lys139Arg NC_000012.12:51379365:T:C p.(Lys139Arg) NC_000012.12:51379365:T:C p.(Lys139Arg) NC_000012.12:51379365:T:C Identity +NM_001253826.2:c.877G>A NP_001240755.1:p.Asp293Asn NC_000002.12:30942269:C:T p.(Asp293Asn) NC_000002.12:30942269:C:T p.(Asp293Asn) NC_000002.12:30942269:C:T Identity +NM_001199781.2:c.709C>G NP_001186710.1:p.Leu237Val NC_000012.12:89523831:G:C p.(Leu237Val) NC_000012.12:89523831:G:C p.(Leu237Val) NC_000012.12:89523831:G:C Identity +NM_003614.2:c.1040G>T NP_003605.1:p.Gly347Val NC_000022.11:37825402:G:T p.(Gly347Val) NC_000022.11:37825402:G:T p.(Gly347Val) NC_000022.11:37825402:G:T Identity +NM_001012454.6:c.737A>G NP_001012457.3:p.Asn246Ser NC_000007.14:128682965:A:G p.(Asn246Ser) NC_000007.14:128682965:A:G p.(Asn246Ser) NC_000007.14:128682965:A:G Identity +NM_001012454.6:c.827G>A NP_001012457.3:p.Arg276Lys NC_000007.14:128683055:G:A p.(Arg276Lys) NC_000007.14:128683055:G:A p.(Arg276Lys) NC_000007.14:128683055:G:A Identity +NM_001278192.2:c.1411T>C NP_001265121.1:p.Tyr471His NC_000011.10:62629863:A:G p.(Tyr471His) NC_000011.10:62629863:A:G p.(Tyr471His) NC_000011.10:62629863:A:G Identity +NM_139285.4:c.1189T>G NP_644814.1:p.Cys397Gly NC_000017.11:35746307:A:C p.(Cys397Gly) NC_000017.11:35746307:A:C p.(Cys397Gly) NC_000017.11:35746307:A:C Identity +NM_014686.5:c.2251C>T NP_055501.2:p.Arg751Trp NC_000019.10:34342184:C:T p.(Arg751Trp) NC_000019.10:34342184:C:T p.(Arg751Trp) NC_000019.10:34342184:C:T Identity +NM_001143830.3:c.560C>G NP_001137302.1:p.Ser187Cys NC_000011.10:22749205:C:G p.(Ser187Cys) NC_000011.10:22749205:C:G p.(Ser187Cys) NC_000011.10:22749205:C:G Identity +NM_001308093.3:c.85G>T NP_001295022.1:p.Gly29Cys NC_000008.11:11708396:G:T p.(Gly29Cys) NC_000008.11:11708396:G:T p.(Gly29Cys) NC_000008.11:11708396:G:T Identity +NM_020699.4:c.668C>T NP_065750.1:p.Ser223Phe NC_000001.11:153818100:G:A p.(Ser223Phe) NC_000001.11:153818100:G:A p.(Ser223Phe) NC_000001.11:153818100:G:A Identity +NM_001199328.3:c.903C>G NP_001186257.3:p.Ser301Arg NC_000001.11:74205711:C:G p.(Ser301Arg) NC_000001.11:74205711:C:G p.(Ser301Arg) NC_000001.11:74205711:C:G Identity +NM_001168235.2:c.5873A>G NP_001161707.1:p.Asn1958Ser NC_000004.12:143611433:T:C p.(Asn1958Ser) NC_000004.12:143611433:T:C p.(Asn1958Ser) NC_000004.12:143611433:T:C Identity +NM_001363341.2:c.4G>A NP_001350270.1:p.Ala2Thr NC_000004.12:151760978:C:T p.(Ala2Thr) NC_000004.12:151760978:C:T p.(Ala2Thr) NC_000004.12:151760978:C:T Identity +NM_001277225.2:c.680C>T NP_001264154.1:p.Ala227Val NC_000004.12:22747685:C:T p.(Ala227Val) NW_025791774.1:69478:C:T p.(Ala227Val) NC_000004.12:69478:T:T Identity +NM_001171690.2:c.845T>C NP_001165161.1:p.Val282Ala NC_000022.11:37815452:T:C p.(Val282Ala) NC_000022.11:37815452:T:C p.(Val282Ala) NC_000022.11:37815452:T:C Identity +NM_006836.2:c.6589C>G NP_006827.1:p.Leu2197Val NC_000012.12:120137618:G:C p.(Leu2197Val) NC_000012.12:120137618:G:C p.(Leu2197Val) NC_000012.12:120137618:G:C Identity +NM_006836.2:c.994T>C NP_006827.1:p.Ser332Pro NC_000012.12:120175793:A:G p.(Ser332Pro) NC_000012.12:120175793:A:G p.(Ser332Pro) NC_000012.12:120175793:A:G Identity +NM_052957.5:c.619G>A NP_443189.1:p.Asp207Asn NC_000023.11:71603895:G:A p.(Asp207Asn) NC_000023.11:71603895:G:A p.(Asp207Asn) NC_000023.11:71603895:G:A Identity +NM_001018100.5:c.916A>C NP_001018110.1:p.Ile306Leu NC_000015.10:57633723:A:C p.(Ile306Leu) NC_000015.10:57633723:A:C p.(Ile306Leu) NC_000015.10:57633723:A:C Identity +NM_001256737.2:c.941G>A NP_001243666.1:p.Arg314Gln NC_000020.11:44279079:G:A p.(Arg314Gln) NC_000020.11:44279079:G:A p.(Arg314Gln) NC_000020.11:44279079:G:A Identity +NM_001324067.2:c.95G>C NP_001310996.1:p.Cys32Ser NC_000016.10:19521869:C:G p.(Cys32Ser) NC_000016.10:19521869:C:G p.(Cys32Ser) NC_000016.10:19521869:C:G Identity +NM_004864.4:c.719G>A NP_004855.2:p.Cys240Tyr NC_000019.10:18388726:G:A p.(Cys240Tyr) NC_000019.10:18388726:G:A p.(Cys240Tyr) NC_000019.10:18388726:G:A Identity +NM_001089.3:c.2410C>T NP_001080.2:p.His804Tyr NC_000016.10:2295593:G:A p.(His804Tyr) NC_000016.10:2295593:G:A p.(His804Tyr) NC_000016.10:2295593:G:A Identity +NM_015721.3:c.1216A>G NP_056536.2:p.Ile406Val NC_000017.11:746826:T:C p.(Ile406Val) NC_000017.11:746826:T:C p.(Ile406Val) NC_000017.11:746826:T:C Identity +NM_001318336.2:c.110G>A NP_001305265.1:p.Arg37Gln NC_000010.11:13858895:C:T p.(Arg37Gln) NC_000010.11:13858895:C:T p.(Arg37Gln) NC_000010.11:13858895:C:T Identity +NM_015030.2:c.2141G>A NP_055845.1:p.Arg714Gln NC_000004.12:48581450:C:T p.(Arg714Gln) NC_000004.12:48581450:C:T p.(Arg714Gln) NC_000004.12:48581450:C:T Identity +NM_001346445.2:c.3013A>G NP_001333374.1:p.Lys1005Glu NC_000011.10:62531403:T:C p.(Lys1005Glu) NC_000011.10:62531403:T:C p.(Lys1005Glu) NC_000011.10:62531403:T:C Identity +NM_015949.3:c.227A>G NP_057033.2:p.His76Arg NC_000007.14:886126:A:G p.(His76Arg) NC_000007.14:886126:A:G p.(His76Arg) NC_000007.14:886126:A:G Identity +NM_001371908.1:c.542A>T NP_001358837.1:p.His181Leu NC_000009.12:132989091:A:T p.(His181Leu) NC_000009.12:132989091:A:T p.(His181Leu) NC_000009.12:132989091:A:T Identity +NM_001346445.2:c.4487C>T NP_001333374.1:p.Ala1496Val NC_000011.10:62529929:G:A p.(Ala1496Val) NC_000011.10:62529929:G:A p.(Ala1496Val) NC_000011.10:62529929:G:A Identity +NM_001195256.2:c.98T>G NP_001182185.1:p.Phe33Cys NC_000019.10:49426527:T:G p.(Phe33Cys) NC_000019.10:49426527:T:G p.(Phe33Cys) NC_000019.10:49426527:T:G Identity +NM_000821.7:c.1931G>C NP_000812.2:p.Gly644Ala NC_000002.12:85550707:C:G p.(Gly644Ala) NC_000002.12:85550707:C:G p.(Gly644Ala) NC_000002.12:85550707:C:G Identity +NM_001330429.2:c.1053C>G NP_001317358.1:p.Ile351Met NC_000019.10:4322998:C:G p.(Ile351Met) NC_000019.10:4322998:C:G p.(Ile351Met) NC_000019.10:4322998:C:G Identity +NM_001138.2:c.14C>T NP_001129.1:p.Ala5Val NC_000016.10:67483384:G:A p.(Ala5Val) NC_000016.10:67483384:G:A p.(Ala5Val) NC_000016.10:67483384:G:A Identity +NM_001001560.3:c.853C>G NP_001001560.1:p.Pro285Ala NC_000022.11:37629481:C:G p.(Pro285Ala) NC_000022.11:37629481:C:G p.(Pro285Ala) NC_000022.11:37629481:C:G Identity +NM_015044.4:c.949C>T NP_055859.1:p.Arg317Trp NC_000016.10:23480701:G:A p.(Arg317Trp) NC_000016.10:23480701:G:A p.(Arg317Trp) NC_000016.10:23480701:G:A Identity +NM_001351702.2:c.965C>T NP_001338631.1:p.Pro322Leu NC_000020.11:34859491:G:A p.(Pro322Leu) NC_000020.11:34859491:G:A p.(Pro322Leu) NC_000020.11:34859491:G:A Identity +NM_153236.4:c.738G>T NP_694968.1:p.Lys246Asn NC_000007.14:150520711:G:T p.(Lys246Asn) NC_000007.14:150520711:G:T p.(Lys246Asn) NC_000007.14:150520711:G:T Identity +NM_032602.2:c.98G>A NP_115991.1:p.Arg33Gln NC_000006.12:89894565:G:A p.(Arg33Gln) NC_000006.12:89894565:G:A p.(Arg33Gln) NC_000006.12:89894565:G:A Identity +NM_020435.4:c.370C>T NP_065168.2:p.Pro124Ser NC_000001.11:228158127:C:T p.(Pro124Ser) NC_000001.11:228158127:C:T p.(Pro124Ser) NC_000001.11:228158127:C:T Identity +NM_001370460.1:c.596A>C NP_001357389.1:p.Glu199Ala NC_000011.10:134356337:A:C p.(Glu199Ala) NC_000011.10:134356337:A:C p.(Glu199Ala) NC_000011.10:134356337:A:C Identity +NM_012193.4:c.554G>T NP_036325.2:p.Gly185Val NC_000011.10:86952201:C:A p.(Gly185Val) NC_000011.10:86952201:C:A p.(Gly185Val) NC_000011.10:86952201:C:A Identity +NM_001384165.1:c.563C>T NP_001371094.1:p.Pro188Leu NC_000017.11:44075909:C:T p.(Pro188Leu) NC_000017.11:44075909:C:T p.(Pro188Leu) NC_000017.11:44075909:C:T Identity +NM_032602.2:c.1141T>C NP_115991.1:p.Phe381Leu NC_000006.12:89895608:T:C p.(Phe381Leu) NC_000006.12:89895608:T:C p.(Phe381Leu) NC_000006.12:89895608:T:C Identity +NM_033214.3:c.248C>T NP_149991.2:p.Ser83Phe NC_000004.12:79407952:G:A p.(Ser83Phe) NC_000004.12:79407952:G:A p.(Ser83Phe) NC_000004.12:79407952:G:A Identity +NM_001286423.2:c.1864C>G NP_001273352.1:p.Pro622Ala NC_000002.12:219237172:G:C p.(Pro622Ala) NC_000002.12:219237172:G:C p.(Pro622Ala) NC_000002.12:219237172:G:C Identity +NM_138426.4:c.499A>G NP_612435.1:p.Ile167Val NC_000007.14:8003948:A:G p.(Ile167Val) NC_000007.14:8003948:A:G p.(Ile167Val) NC_000007.14:8003948:A:G Identity +NM_001160045.2:c.2042A>T NP_001153517.1:p.Tyr681Phe NC_000012.12:57471165:A:T p.(Tyr681Phe) NC_000012.12:57471165:A:T p.(Tyr681Phe) NC_000012.12:57471165:A:T Identity +NM_001256604.2:c.857C>T NP_001243533.1:p.Thr286Met NC_000001.11:156293370:G:A p.(Thr286Met) NC_000001.11:156293370:G:A p.(Thr286Met) NC_000001.11:156293370:G:A Identity +NM_001256604.2:c.1004T>C NP_001243533.1:p.Met335Thr NC_000001.11:156293113:A:G p.(Met335Thr) NC_000001.11:156293113:A:G p.(Met335Thr) NC_000001.11:156293113:A:G Identity +NM_001291985.2:c.386T>C NP_001278914.1:p.Phe129Ser NC_000005.10:170795352:T:C p.(Phe129Ser) NC_000005.10:170795352:T:C p.(Phe129Ser) NC_000005.10:170795352:T:C Identity +NM_138465.4:c.569A>G NP_612474.1:p.Lys190Arg NC_000008.11:143276241:A:G p.(Lys190Arg) NC_000008.11:143276241:A:G p.(Lys190Arg) NC_000008.11:143276241:A:G Identity +NM_001042413.2:c.2072C>T NP_001035878.1:p.Ala691Val NC_000009.12:3898746:G:A p.(Ala691Val) NC_000009.12:3898746:G:A p.(Ala691Val) NC_000009.12:3898746:G:A Identity +NM_001256604.2:c.623G>A NP_001243533.1:p.Arg208His NC_000001.11:156294192:C:T p.(Arg208His) NC_000001.11:156294192:C:T p.(Arg208His) NC_000001.11:156294192:C:T Identity +NM_001199781.2:c.371A>G NP_001186710.1:p.Gln124Arg NC_000012.12:89524169:T:C p.(Gln124Arg) NC_000012.12:89524169:T:C p.(Gln124Arg) NC_000012.12:89524169:T:C Identity +NM_001329868.2:c.53A>G NP_001316797.1:p.Glu18Gly NC_000002.12:157284289:A:G p.(Glu18Gly) NC_000002.12:157284289:A:G p.(Glu18Gly) NC_000002.12:157284289:A:G Identity +NM_014568.3:c.838A>C NP_055383.1:p.Lys280Gln NC_000002.12:157258919:A:C p.(Lys280Gln) NC_000002.12:157258919:A:C p.(Lys280Gln) NC_000002.12:157258919:A:C Identity +NM_018983.4:c.647G>A NP_061856.1:p.Gly216Glu NC_000004.12:109824423:G:A p.(Gly216Glu) NC_000004.12:109824423:G:A p.(Gly216Glu) NC_000004.12:109824423:G:A Identity +NM_130899.3:c.1365G>C NP_570969.2:p.Arg455Ser NC_000005.10:157162899:C:G p.(Arg455Ser) NC_000005.10:157162899:C:G p.(Arg455Ser) NC_000005.10:157162899:C:G Identity +NM_001145402.2:c.631G>A NP_001138874.1:p.Ala211Thr NC_000019.10:55361196:C:T p.(Ala211Thr) NC_000019.10:55361196:C:T p.(Ala211Thr) NC_000019.10:55361196:C:T Identity +NM_139285.4:c.10C>A NP_644814.1:p.Pro4Thr NC_000017.11:35752840:G:T p.(Pro4Thr) NC_000017.11:35752840:G:T p.(Pro4Thr) NC_000017.11:35752840:G:T Identity +NM_001303130.2:c.1295C>T NP_001290059.1:p.Pro432Leu NC_000012.12:100624099:C:T p.(Pro432Leu) NC_000012.12:100624099:C:T p.(Pro432Leu) NC_000012.12:100624099:C:T Identity +NM_001098834.3:c.157C>T NP_001092304.1:p.Arg53Trp NC_000007.14:151167391:G:A p.(Arg53Trp) NC_000007.14:151167391:G:A p.(Arg53Trp) NC_000007.14:151167391:G:A Identity +NM_001201334.2:c.1748T>C NP_001188263.1:p.Ile583Thr NC_000002.12:75664756:A:G p.(Ile583Thr) NC_000002.12:75664756:A:G p.(Ile583Thr) NC_000002.12:75664756:A:G Identity +NM_001135589.3:c.1253A>G NP_001129061.1:p.Lys418Arg NC_000001.11:117881871:T:C p.(Lys418Arg) NC_000001.11:117881871:T:C p.(Lys418Arg) NC_000001.11:117881871:T:C Identity +NM_000514.4:c.115G>C NP_000505.1:p.Gly39Arg NC_000005.10:37834681:C:G p.(Gly39Arg) NC_000005.10:37834681:C:G p.(Gly39Arg) NC_000005.10:37834681:C:G Identity +NM_015721.3:c.340G>A NP_056536.2:p.Glu114Lys NC_000017.11:747702:C:T p.(Glu114Lys) NC_000017.11:747702:C:T p.(Glu114Lys) NC_000017.11:747702:C:T Identity +NM_001042479.2:c.212C>T NP_001035944.1:p.Ala71Val NC_000023.11:14020337:G:A p.(Ala71Val) NC_000023.11:14020337:G:A p.(Ala71Val) NC_000023.11:14020337:G:A Identity +NM_001130009.3:c.910G>A NP_001123481.3:p.Glu304Lys NC_000002.12:17772740:G:A p.(Glu304Lys) NC_000002.12:17772740:G:A p.(Glu304Lys) NC_000002.12:17772740:G:A Identity +NM_001317744.2:c.257T>G NP_001304673.1:p.Leu86Arg NC_000021.9:39390851:T:G p.(Leu86Arg) NC_000021.9:39390851:T:G p.(Leu86Arg) NC_000021.9:39390851:T:G Identity +NM_001371488.1:c.856G>A NP_001358417.1:p.Glu286Lys NC_000019.10:12747532:G:A p.(Glu286Lys) NC_000019.10:12747532:G:A p.(Glu286Lys) NC_000019.10:12747532:G:A Identity +NM_001103146.3:c.3884C>T NP_001096616.1:p.Thr1295Met NC_000002.12:232856843:C:T p.(Thr1295Met) NC_000002.12:232856843:C:T p.(Thr1295Met) NC_000002.12:232856843:C:T Identity +NM_001317954.2:c.889G>A NP_001304883.1:p.Asp297Asn NC_000005.10:103088136:C:T p.(Asp297Asn) NC_000005.10:103088136:C:T p.(Asp297Asn) NC_000005.10:103088136:C:T Identity +NM_182536.3:c.519C>G NP_872342.2:p.Ile173Met NC_000002.12:68945403:G:C p.(Ile173Met) NC_000002.12:68945403:G:C p.(Ile173Met) NC_000002.12:68945403:G:C Identity +NM_001350929.2:c.11570C>T NP_001337858.1:p.Ala3857Val NC_000014.9:104943580:G:A p.(Ala3857Val) NC_000014.9:104943580:G:A p.(Ala3857Val) NC_000014.9:104943580:G:A Identity +NM_001367484.1:c.2311G>A NP_001354413.1:p.Glu771Lys NC_000001.11:53506695:C:T p.(Glu771Lys) NC_000001.11:53506695:C:T p.(Glu771Lys) NC_000001.11:53506695:C:T Identity +NM_004246.3:c.1415G>A NP_004237.1:p.Arg472Gln NC_000017.11:9889457:G:A p.(Arg472Gln) NC_000017.11:9889457:G:A p.(Arg472Gln) NC_000017.11:9889457:G:A Identity +NM_012084.4:c.145G>T NP_036216.2:p.Ala49Ser NC_000023.11:121047828:G:T p.(Ala49Ser) NC_000023.11:121047828:G:T p.(Ala49Ser) NC_000023.11:121047828:G:T Identity +NM_001308096.2:c.703A>G NP_001295025.1:p.Ile235Val NC_000016.10:4821575:T:C p.(Ile235Val) NC_000016.10:4821575:T:C p.(Ile235Val) NC_000016.10:4821575:T:C Identity +NM_003875.3:c.1570C>T NP_003866.1:p.Arg524Cys NC_000003.12:155931773:C:T p.(Arg524Cys) NC_000003.12:155931773:C:T p.(Arg524Cys) NC_000003.12:155931773:C:T Identity +NM_001293092.2:c.160G>T NP_001280021.1:p.Val54Phe NC_000007.14:2844001:C:A p.(Val54Phe) NC_000007.14:2844001:C:A p.(Val54Phe) NC_000007.14:2844001:C:A Identity +NM_001102386.3:c.113T>A NP_001095856.1:p.Leu38Gln NC_000007.14:80511813:A:T p.(Leu38Gln) NC_000007.14:80511813:A:T p.(Leu38Gln) NC_000007.14:80511813:A:T Identity +NM_145016.4:c.828T>A NP_659453.3:p.Phe276Leu NC_000011.10:58834485:A:T p.(Phe276Leu) NC_000011.10:58834485:A:T p.(Phe276Leu) NC_000011.10:58834485:A:T Identity +NM_001350929.2:c.13198C>T NP_001337858.1:p.Pro4400Ser NC_000014.9:104941952:G:A p.(Pro4400Ser) NC_000014.9:104941952:G:A p.(Pro4400Ser) NC_000014.9:104941952:G:A Identity +NM_178439.5:c.1261C>G NP_848526.1:p.Leu421Val NC_000002.12:69869760:C:G p.(Leu421Val) NC_000002.12:69869760:C:G p.(Leu421Val) NC_000002.12:69869760:C:G Identity +NM_001288998.2:c.1604T>C NP_001275927.1:p.Val535Ala NC_000019.10:19635082:A:G p.(Val535Ala) NC_000019.10:19635082:A:G p.(Val535Ala) NC_000019.10:19635082:A:G Identity +NM_001377295.2:c.423G>C NP_001364224.1:p.Glu141Asp NC_000001.11:109608668:C:G p.(Glu141Asp) NC_000001.11:109608668:C:G p.(Glu141Asp) NC_000001.11:109608668:C:G Identity +NM_001316967.2:c.742G>A NP_001303896.1:p.Glu248Lys NC_000012.12:103994359:C:T p.(Glu248Lys) NC_000012.12:103994359:C:T p.(Glu248Lys) NC_000012.12:103994359:C:T Identity +NM_012084.4:c.376G>T NP_036216.2:p.Asp126Tyr NC_000023.11:121048059:G:T p.(Asp126Tyr) NC_000023.11:121048059:G:T p.(Asp126Tyr) NC_000023.11:121048059:G:T Identity +NM_001308096.2:c.583G>A NP_001295025.1:p.Gly195Arg NC_000016.10:4823861:C:T p.(Gly195Arg) NC_000016.10:4823861:C:T p.(Gly195Arg) NC_000016.10:4823861:C:T Identity +NM_001350929.2:c.13450G>A NP_001337858.1:p.Ala4484Thr NC_000014.9:104941700:C:T p.(Ala4484Thr) NC_000014.9:104941700:C:T p.(Ala4484Thr) NC_000014.9:104941700:C:T Identity +NM_001374294.1:c.392G>A NP_001361223.1:p.Arg131Gln NC_000002.12:219501999:G:A p.(Arg131Gln) NC_000002.12:219501999:G:A p.(Arg131Gln) NC_000002.12:219501999:G:A Identity +NM_001142339.3:c.1043C>A NP_001135811.1:p.Pro348Gln NC_000018.10:11881031:C:A p.(Pro348Gln) NC_000018.10:11881031:C:A p.(Pro348Gln) NC_000018.10:11881031:C:A Identity +NM_024312.5:c.3043G>A NP_077288.2:p.Asp1015Asn NC_000012.12:101761218:C:T p.(Asp1015Asn) NC_000012.12:101761218:C:T p.(Asp1015Asn) NC_000012.12:101761218:C:T Identity +NM_001366244.2:c.851G>A NP_001353173.2:p.Arg284His NC_000009.12:128265666:C:T p.(Arg284His) NC_000009.12:128265666:C:T p.(Arg284His) NC_000009.12:128265666:C:T Identity +NM_001184819.2:c.544G>A NP_001171748.1:p.Val182Ile NC_000023.11:54544239:G:A p.(Val182Ile) NC_000023.11:54544239:G:A p.(Val182Ile) NC_000023.11:54544239:G:A Identity +NM_001318856.2:c.616G>A NP_001305785.1:p.Asp206Asn NC_000006.12:42963631:G:A p.(Asp206Asn) NC_000006.12:42963631:G:A p.(Asp206Asn) NC_000006.12:42963631:G:A Identity +NM_000406.3:c.225A>C NP_000397.1:p.Arg75Ser NC_000004.12:67754110:T:G p.(Arg75Ser) NC_000004.12:67754110:T:G p.(Arg75Ser) NC_000004.12:67754110:T:G Identity +NM_002076.4:c.835A>G NP_002067.1:p.Asn279Asp NC_000012.12:64740645:T:C p.(Asn279Asp) NC_000012.12:64740645:T:C p.(Asn279Asp) NC_000012.12:64740645:T:C Identity +NM_002077.4:c.31G>A NP_002068.2:p.Glu11Lys NC_000009.12:124938680:C:T p.(Glu11Lys) NC_000009.12:124938680:C:T p.(Glu11Lys) NC_000009.12:124938680:C:T Identity +NM_001172557.2:c.1349A>G NP_001166028.1:p.Gln450Arg NC_000012.12:132804963:T:C p.(Gln450Arg) NC_000012.12:132804963:T:C p.(Gln450Arg) NC_000012.12:132804963:T:C Identity +NM_005273.4:c.386G>A NP_005264.2:p.Arg129His NC_000007.14:100677615:G:A p.(Arg129His) NC_000007.14:100677615:G:A p.(Arg129His) NC_000007.14:100677615:G:A Identity +NM_001316350.2:c.469C>G NP_001303279.1:p.Leu157Val NC_000001.11:231265375:C:G p.(Leu157Val) NC_000001.11:231265375:C:G p.(Leu157Val) NC_000001.11:231265375:C:G Identity +NM_002077.4:c.1144A>G NP_002068.2:p.Thr382Ala NC_000009.12:124900468:T:C p.(Thr382Ala) NC_000009.12:124900468:T:C p.(Thr382Ala) NC_000009.12:124900468:T:C Identity +NM_001172557.2:c.1822G>T NP_001166028.1:p.Gly608Cys NC_000012.12:132798455:C:A p.(Gly608Cys) NC_000012.12:132798455:C:A p.(Gly608Cys) NC_000012.12:132798455:C:A Identity +NM_001172557.2:c.2864C>T NP_001166028.1:p.Ala955Val NC_000012.12:132786734:G:A p.(Ala955Val) NC_000012.12:132786734:G:A p.(Ala955Val) NC_000012.12:132786734:G:A Identity +NM_001389683.1:c.3612T>A NP_001376612.1:p.His1204Gln NC_000012.12:132777775:A:T p.(His1204Gln) NC_000012.12:132777775:A:T p.(His1204Gln) NC_000012.12:132777775:A:T Identity +NM_138420.4:c.226G>A NP_612429.2:p.Gly76Ser NC_000014.9:104956676:C:T p.(Gly76Ser) NC_000014.9:104956676:C:T p.(Gly76Ser) NC_000014.9:104956676:C:T Identity +NM_005275.5:c.1772C>G NP_005266.2:p.Ser591Cys NC_000006.12:30546123:G:C p.(Ser591Cys) NC_000006.12:30546123:G:C p.(Ser591Cys) NC_000006.12:30546123:G:C Identity +NM_001366244.2:c.1855A>C NP_001353173.2:p.Ser619Arg NC_000009.12:128260092:T:G p.(Ser619Arg) NC_000009.12:128260092:T:G p.(Ser619Arg) NC_000009.12:128260092:T:G Identity +NM_001017408.3:c.8C>T NP_001017408.1:p.Ala3Val NC_000006.12:117602280:G:A p.(Ala3Val) NC_000006.12:117602280:G:A p.(Ala3Val) NC_000006.12:117602280:G:A Identity +NM_001164465.3:c.752G>C NP_001157937.2:p.Cys251Ser NC_000015.10:82345107:C:G p.(Cys251Ser) NC_000015.10:82345107:C:G p.(Cys251Ser) NC_000015.10:82345107:C:G Identity +NM_001350929.2:c.3997A>G NP_001337858.1:p.Ile1333Val NC_000014.9:104951153:T:C p.(Ile1333Val) NC_000014.9:104951153:T:C p.(Ile1333Val) NC_000014.9:104951153:T:C Identity +NM_001077191.2:c.976G>A NP_001070659.1:p.Asp326Asn NC_000002.12:218263699:G:A p.(Asp326Asn) NC_000002.12:218263699:G:A p.(Asp326Asn) NC_000002.12:218263699:G:A Identity +NM_001256486.2:c.8350A>G NP_001243415.1:p.Arg2784Gly NC_000003.12:121691013:T:C p.(Arg2784Gly) NC_000003.12:121691013:T:C p.(Arg2784Gly) NC_000003.12:121691013:T:C Identity +NM_001350929.2:c.3716G>A NP_001337858.1:p.Gly1239Glu NC_000014.9:104951434:C:T p.(Gly1239Glu) NC_000014.9:104951434:C:T p.(Gly1239Glu) NC_000014.9:104951434:C:T Identity +NM_001256486.2:c.2217C>G NP_001243415.1:p.Asn739Lys NC_000003.12:121698305:G:C p.(Asn739Lys) NC_000003.12:121698305:G:C p.(Asn739Lys) NC_000003.12:121698305:G:C Identity +NM_001007240.3:c.110T>C NP_001007241.2:p.Ile37Thr NC_000016.10:20324240:A:G p.(Ile37Thr) NC_000016.10:20324240:A:G p.(Ile37Thr) NC_000016.10:20324240:A:G Identity +NM_015698.6:c.274G>A NP_056513.2:p.Asp92Asn NC_000023.11:49122678:C:T p.(Asp92Asn) NC_000023.11:49122678:C:T p.(Asp92Asn) NC_000023.11:49122678:C:T Identity +NM_001007240.3:c.1406T>C NP_001007241.2:p.Leu469Pro NC_000016.10:20317231:A:G p.(Leu469Pro) NC_000016.10:20317231:A:G p.(Leu469Pro) NC_000016.10:20317231:A:G Identity +NM_001244949.2:c.593A>T NP_001231878.1:p.Asn198Ile NC_000010.11:112173033:T:A p.(Asn198Ile) NC_000010.11:112173033:T:A p.(Asn198Ile) NC_000010.11:112173033:T:A Identity +NM_001007240.3:c.1316C>G NP_001007241.2:p.Ser439Trp NC_000016.10:20317321:G:C p.(Ser439Trp) NC_000016.10:20317321:G:C p.(Ser439Trp) NC_000016.10:20317321:G:C Identity +NM_005708.5:c.1324A>C NP_005699.1:p.Asn442His NC_000013.11:94398499:A:C p.(Asn442His) NC_000013.11:94398499:A:C p.(Asn442His) NC_000013.11:94398499:A:C Identity +NM_001350929.2:c.4732G>C NP_001337858.1:p.Glu1578Gln NC_000014.9:104950418:C:G p.(Glu1578Gln) NC_000014.9:104950418:C:G p.(Glu1578Gln) NC_000014.9:104950418:C:G Identity +NM_001168271.2:c.2108G>A NP_001161743.1:p.Ser703Asn NC_000003.12:120167356:C:T p.(Ser703Asn) NC_000003.12:120167356:C:T p.(Ser703Asn) NC_000003.12:120167356:C:T Identity +NM_001350929.2:c.7813C>G NP_001337858.1:p.Leu2605Val NC_000014.9:104947337:G:C p.(Leu2605Val) NC_000014.9:104947337:G:C p.(Leu2605Val) NC_000014.9:104947337:G:C Identity +NM_130769.4:c.374G>T NP_570125.1:p.Arg125Leu NC_000011.10:64934788:C:A p.(Arg125Leu) NC_000011.10:64934788:C:A p.(Arg125Leu) NC_000011.10:64934788:C:A Identity +NM_022571.6:c.907A>T NP_072093.2:p.Thr303Ser NC_000014.9:59464319:T:A p.(Thr303Ser) NC_000014.9:59464319:T:A p.(Thr303Ser) NC_000014.9:59464319:T:A Identity +NM_001039966.2:c.133G>A NP_001035055.1:p.Gly45Arg NC_000007.14:1091860:G:A p.(Gly45Arg) NC_000007.14:1091860:G:A p.(Gly45Arg) NC_000007.14:1091860:G:A Identity +NM_001039966.2:c.989C>G NP_001035055.1:p.Thr330Ser NC_000007.14:1092716:C:G p.(Thr330Ser) NC_000007.14:1092716:C:G p.(Thr330Ser) NC_000007.14:1092716:C:G Identity +NM_001170880.2:c.257G>C NP_001164351.1:p.Arg86Pro NC_000011.10:64286780:G:C p.(Arg86Pro) NC_000011.10:64286780:G:C p.(Arg86Pro) NC_000011.10:64286780:G:C Identity +NM_001195381.3:c.974G>A NP_001182310.1:p.Ser325Asn NC_000002.12:240630832:G:A p.(Ser325Asn) NC_000002.12:240630832:G:A p.(Ser325Asn) NC_000002.12:240630832:G:A Identity +NM_006794.4:c.359C>G NP_006785.1:p.Thr120Ser NC_000002.12:53854397:G:C p.(Thr120Ser) NC_000002.12:53854397:G:C p.(Thr120Ser) NC_000002.12:53854397:G:C Identity +NM_054021.2:c.1160C>G NP_473362.1:p.Pro387Arg NC_000023.11:137030514:G:C p.(Pro387Arg) NC_000023.11:137030514:G:C p.(Pro387Arg) NC_000023.11:137030514:G:C Identity +NM_199243.3:c.622G>T NP_954713.1:p.Ala208Ser NC_000005.10:95620896:G:T p.(Ala208Ser) NC_000005.10:95620896:G:T p.(Ala208Ser) NC_000005.10:95620896:G:T Identity +NM_020752.3:c.3322C>A NP_065803.2:p.Arg1108Ser NC_000010.11:25598947:C:A p.(Arg1108Ser) NC_000010.11:25598947:C:A p.(Arg1108Ser) NC_000010.11:25598947:C:A Identity +NM_014449.2:c.839G>C NP_055264.1:p.Gly280Ala NC_000012.12:6827127:G:C p.(Gly280Ala) NC_000012.12:6827127:G:C p.(Gly280Ala) NC_000012.12:6827127:G:C Identity +NM_007264.4:c.850C>A NP_009195.1:p.His284Asn NC_000012.12:56996058:C:A p.(His284Asn) NC_000012.12:56996058:C:A p.(His284Asn) NC_000012.12:56996058:C:A Identity +NM_014373.3:c.856T>C NP_055188.1:p.Phe286Leu NC_000003.12:170084827:T:C p.(Phe286Leu) NC_000003.12:170084827:T:C p.(Phe286Leu) NC_000003.12:170084827:T:C Identity +NM_004951.5:c.801T>A NP_004942.1:p.His267Gln NC_000013.11:99295344:A:T p.(His267Gln) NC_000013.11:99295344:A:T p.(His267Gln) NC_000013.11:99295344:A:T Identity +NM_001286354.1:c.1068G>C NP_001273283.1:p.Met356Ile NC_000006.12:116795790:C:G p.(Met356Ile) NC_000006.12:116795790:C:G p.(Met356Ile) NC_000006.12:116795790:C:G Identity +NM_001172105.2:c.947A>G NP_001165576.1:p.Glu316Gly NC_000003.12:113936370:A:G p.(Glu316Gly) NC_000003.12:113936370:A:G p.(Glu316Gly) NC_000003.12:113936370:A:G Identity +NM_005282.3:c.160G>A NP_005273.1:p.Val54Ile NC_000019.10:45591706:C:T p.(Val54Ile) NC_000019.10:45591706:C:T p.(Val54Ile) NC_000019.10:45591706:C:T Identity +NM_006794.4:c.1433G>A NP_006785.1:p.Arg478Gln NC_000002.12:53853323:C:T p.(Arg478Gln) NC_000002.12:53853323:C:T p.(Arg478Gln) NC_000002.12:53853323:C:T Identity +NM_006794.4:c.977T>C NP_006785.1:p.Ile326Thr NC_000002.12:53853779:A:G p.(Ile326Thr) NC_000002.12:53853779:A:G p.(Ile326Thr) NC_000002.12:53853779:A:G Identity +NM_080819.5:c.707G>A NP_543009.2:p.Arg236His NC_000004.12:8582568:G:A p.(Arg236His) NC_000004.12:8582568:G:A p.(Arg236His) NC_000004.12:8582568:G:A Identity +NM_001286099.2:c.203C>T NP_001273028.1:p.Ser68Phe NC_000006.12:109979269:C:T p.(Ser68Phe) NC_000006.12:109979269:C:T p.(Ser68Phe) NC_000006.12:109979269:C:T Identity +NM_014668.4:c.3502G>C NP_055483.2:p.Glu1168Gln NC_000002.12:11618376:G:C p.(Glu1168Gln) NC_000002.12:11618376:G:C p.(Glu1168Gln) NC_000002.12:11618376:G:C Identity +NM_014668.4:c.5386A>G NP_055483.2:p.Ile1796Val NC_000002.12:11637754:A:G p.(Ile1796Val) NC_000002.12:11637754:A:G p.(Ile1796Val) NC_000002.12:11637754:A:G Identity +NM_000831.4:c.407G>A NP_000822.2:p.Arg136His NC_000001.11:36880776:C:T p.(Arg136His) NC_000001.11:36880776:C:T p.(Arg136His) NC_000001.11:36880776:C:T Identity +NM_002083.4:c.512G>A NP_002074.2:p.Arg171His NC_000014.9:64939548:C:T p.(Arg171His) NC_000014.9:64939548:C:T p.? NC_000014.9:64939548:C:T Identity +NM_001172105.2:c.1249C>T NP_001165576.1:p.Arg417Cys NC_000003.12:113940300:C:T p.(Arg417Cys) NC_000003.12:113940300:C:T p.(Arg417Cys) NC_000003.12:113940300:C:T Identity +NM_001177676.2:c.52A>G NP_001171147.1:p.Thr18Ala NC_000014.9:91234998:T:C p.(Thr18Ala) NC_000014.9:91234998:T:C p.(Thr18Ala) NC_000014.9:91234998:T:C Identity +NM_001146319.3:c.213G>A NP_001139791.1:p.Ala71= NC_000005.10:126465509:G:A p.(Ala71=) NC_000005.10:126465509:G:A p.(Ala71=) NC_000005.10:126465509:G:A Identity +NM_001291824.2:c.273C>A NP_001278753.1:p.Asp91Glu NC_000022.11:39960156:C:A p.(Asp91Glu) NC_000022.11:39960156:C:A p.(Asp91Glu) NC_000022.11:39960156:C:A Identity +NM_001195010.2:c.1270C>T NP_001181939.1:p.Arg424Cys NC_000001.11:24343013:C:T p.(Arg424Cys) NC_000001.11:24343013:C:T p.(Arg424Cys) NC_000001.11:24343013:C:T Identity +NM_017551.3:c.574G>A NP_060021.1:p.Val192Ile NC_000010.11:86138970:C:T p.(Val192Ile) NC_000010.11:86138970:C:T p.(Val192Ile) NC_000010.11:86138970:C:T Identity +NM_001354571.2:c.1042G>T NP_001341500.1:p.Val348Phe NC_000003.12:186620864:G:T p.(Val348Phe) NC_000003.12:186620864:G:T p.(Val348Phe) NC_000003.12:186620864:G:T Identity +NM_000841.4:c.1550G>A NP_000832.1:p.Arg517His NC_000006.12:34036559:C:T p.(Arg517His) NC_000006.12:34036559:C:T p.(Arg517His) NC_000006.12:34036559:C:T Identity +NM_001286587.2:c.319T>C NP_001273516.1:p.Tyr107His NC_000006.12:143165132:T:C p.(Tyr107His) NC_000006.12:143165132:T:C p.(Tyr107His) NC_000006.12:143165132:T:C Identity +NM_001134473.3:c.727C>T NP_001127945.1:p.Arg243Cys NC_000016.10:85656391:C:T p.(Arg243Cys) NC_000016.10:85656391:C:T p.(Arg243Cys) NC_000016.10:85656391:C:T Identity +NM_014615.5:c.104A>G NP_055430.1:p.Asn35Ser NC_000016.10:85634009:A:G p.(Asn35Ser) NC_000016.10:85634009:A:G p.(Asn35Ser) NC_000016.10:85634009:A:G Identity +NM_001136199.3:c.1703C>A NP_001129671.1:p.Pro568His NC_000019.10:35021834:C:A p.(Pro568His) NC_000019.10:35021834:C:A p.(Pro568His) NC_000019.10:35021834:C:A Identity +NM_133267.3:c.358C>A NP_573574.2:p.Pro120Thr NC_000004.12:54100701:C:A p.(Pro120Thr) NC_000004.12:54100701:C:A p.(Pro120Thr) NC_000004.12:54100701:C:A Identity +NM_001193487.3:c.1235G>T NP_001180416.1:p.Arg412Leu NC_000002.12:48679341:G:T p.(Arg412Leu) NC_000002.12:48679341:G:T p.(Arg412Leu) NC_000002.12:48679341:G:T Identity +NM_001366261.2:c.27G>A NP_001353190.1:p.Met9Ile NC_000017.11:74439802:G:A p.(Met9Ile) NC_000017.11:74439802:G:A p.(Met9Ile) NC_000017.11:74439802:G:A Identity +NM_001286563.3:c.220G>A NP_001273492.1:p.Gly74Ser NC_000011.10:123577562:G:A p.(Gly74Ser) NC_000011.10:123577562:G:A p.(Gly74Ser) NC_000011.10:123577562:G:A Identity +NM_001012642.3:c.326C>G NP_001012660.1:p.Pro109Arg NC_000015.10:72167781:G:C p.(Pro109Arg) NC_000015.10:72167781:G:C p.(Pro109Arg) NC_000015.10:72167781:G:C Identity +NM_001146319.3:c.176C>T NP_001139791.1:p.Ser59Leu NC_000005.10:126465472:C:T p.(Ser59Leu) NC_000005.10:126465472:C:T p.(Ser59Leu) NC_000005.10:126465472:C:T Identity +NM_001195010.2:c.796C>T NP_001181939.1:p.Gln266Ter NC_000001.11:24338084:C:T p.(Gln266Ter) NC_000001.11:24338084:C:T p.(Gln266Ter) NC_000001.11:24338084:C:T Identity +NM_000826.6:c.2093C>T NP_000817.5:p.Ala698Val NC_000004.12:157359944:C:T p.(Ala698Val) NC_000004.12:157359944:C:T p.(Ala698Val) NC_000004.12:157359944:C:T Identity +NM_001286838.1:c.941T>C NP_001273767.1:p.Leu314Pro NC_000004.12:93238470:T:C p.(Leu314Pro) NC_000004.12:93238470:T:C p.(Leu314Pro) NC_000004.12:93238470:T:C Identity +NM_001350896.2:c.263A>C NP_001337825.1:p.Lys88Thr NC_000007.14:77397395:T:G p.(Lys88Thr) NC_000007.14:77397395:T:G p.(Lys88Thr) NC_000007.14:77397395:T:G Identity +NM_001166237.1:c.1306G>A NP_001159709.1:p.Ala436Thr NC_000008.11:143562754:G:A p.(Ala436Thr) NC_000008.11:143562754:G:A p.(Ala436Thr) NC_000008.11:143562754:G:A Identity +NM_014668.4:c.1226C>T NP_055483.2:p.Thr409Met NC_000002.12:11588811:C:T p.(Thr409Met) NC_000002.12:11588811:C:T p.(Thr409Met) NC_000002.12:11588811:C:T Identity +NM_014668.4:c.5188A>G NP_055483.2:p.Asn1730Asp NC_000002.12:11634326:A:G p.(Asn1730Asp) NC_000002.12:11634326:A:G p.(Asn1730Asp) NC_000002.12:11634326:A:G Identity +NM_014668.4:c.5347G>C NP_055483.2:p.Val1783Leu NC_000002.12:11637715:G:C p.(Val1783Leu) NC_000002.12:11637715:G:C p.(Val1783Leu) NC_000002.12:11637715:G:C Identity +NM_001195010.2:c.1231G>A NP_001181939.1:p.Val411Met NC_000001.11:24342974:G:A p.(Val411Met) NC_000001.11:24342974:G:A p.(Val411Met) NC_000001.11:24342974:G:A Identity +NM_000827.4:c.580A>G NP_000818.2:p.Lys194Glu NC_000005.10:153650448:A:G p.(Lys194Glu) NC_000005.10:153650448:A:G p.(Lys194Glu) NC_000005.10:153650448:A:G Identity +NM_000829.4:c.1295A>G NP_000820.4:p.Lys432Arg NC_000011.10:105918736:A:G p.(Lys432Arg) NC_000011.10:105918736:A:G p.(Lys432Arg) NC_000011.10:105918736:A:G Identity +NM_001134473.3:c.3251G>A NP_001127945.1:p.Arg1084Gln NC_000016.10:85672447:G:A p.(Arg1084Gln) NC_000016.10:85672447:G:A p.(Arg1084Gln) NC_000016.10:85672447:G:A Identity +NM_000177.5:c.695G>A NP_000168.1:p.Ser232Asn NC_000009.12:121312366:G:A p.(Ser232Asn) NC_000009.12:121312366:G:A p.(Ser232Asn) NC_000009.12:121312366:G:A Identity +NM_000178.4:c.1246C>A NP_000169.1:p.Pro416Thr NC_000020.11:34929455:G:T p.(Pro416Thr) NC_000020.11:34929455:G:T p.(Pro416Thr) NC_000020.11:34929455:G:T Identity +NM_002096.3:c.1313C>A NP_002087.2:p.Pro438His NC_000019.10:6380608:G:T p.(Pro438His) NC_000019.10:6380608:G:T p.(Pro438His) NC_000019.10:6380608:G:T Identity +NM_020137.5:c.1319C>T NP_064522.4:p.Thr440Met NC_000023.11:48983393:G:A p.(Thr440Met) NC_000023.11:48983393:G:A p.(Thr440Met) NC_000023.11:48983393:G:A Identity +NM_001199852.2:c.309C>G NP_001186781.1:p.Asn103Lys NC_000009.12:4719149:G:C p.(Asn103Lys) NC_000009.12:4719149:G:C p.(Asn103Lys) NC_000009.12:4719149:G:C Identity +NM_005317.4:c.8C>T NP_005308.2:p.Ala3Val NC_000019.10:544078:C:T p.(Ala3Val) NC_000019.10:544078:C:T p.(Ala3Val) NC_000019.10:544078:C:T Identity +NM_005325.4:c.69G>C NP_005316.1:p.Lys23Asn NC_000006.12:26017663:C:G p.(Lys23Asn) NC_000006.12:26017663:C:G p.(Lys23Asn) NC_000006.12:26017663:C:G Identity +NM_005319.4:c.216T>A NP_005310.1:p.Asp72Glu NC_000006.12:26056212:A:T p.(Asp72Glu) NC_000006.12:26056212:A:T p.(Asp72Glu) NC_000006.12:26056212:A:T Identity +NM_005320.3:c.28A>G NP_005311.1:p.Thr10Ala NC_000006.12:26234905:T:C p.(Thr10Ala) NC_000006.12:26234905:T:C p.(Thr10Ala) NC_000006.12:26234905:T:C Identity +NM_001286242.2:c.3733C>T NP_001273171.1:p.Arg1245Cys NC_000016.10:27486121:G:A p.(Arg1245Cys) NC_000016.10:27486121:G:A p.(Arg1245Cys) NC_000016.10:27486121:G:A Identity +NM_001080423.4:c.832C>T NP_001073892.3:p.Arg278Cys NC_000003.12:14520417:G:A p.(Arg278Cys) NC_000003.12:14520417:G:A p.(Arg278Cys) NC_000003.12:14520417:G:A Identity +NM_020137.5:c.985G>A NP_064522.4:p.Glu329Lys NC_000023.11:48987840:C:T p.(Glu329Lys) NC_000023.11:48987840:C:T p.(Glu329Lys) NC_000023.11:48987840:C:T Identity +NM_005321.3:c.89C>G NP_005312.1:p.Ala30Gly NC_000006.12:26156478:C:G p.(Ala30Gly) NC_000006.12:26156478:C:G p.(Ala30Gly) NC_000006.12:26156478:C:G Identity +NM_000180.4:c.1707G>C NP_000171.1:p.Gln569His NC_000017.11:8009543:G:C p.(Gln569His) NC_000017.11:8009543:G:C p.(Gln569His) NC_000017.11:8009543:G:C Identity +NM_005318.4:c.374A>G NP_005309.1:p.Lys125Arg NC_000022.11:37805917:A:G p.(Lys125Arg) NC_000022.11:37805917:A:G p.(Lys125Arg) NC_000022.11:37805917:A:G Identity +NM_005319.4:c.101A>T NP_005310.1:p.Lys34Met NC_000006.12:26056327:T:A p.(Lys34Met) NC_000006.12:26056327:T:A p.(Lys34Met) NC_000006.12:26056327:T:A Identity +NM_005319.4:c.341G>C NP_005310.1:p.Gly114Ala NC_000006.12:26056087:C:G p.(Gly114Ala) NC_000006.12:26056087:C:G p.(Gly114Ala) NC_000006.12:26056087:C:G Identity +NM_000841.4:c.2459C>T NP_000832.1:p.Thr820Met NC_000006.12:34028349:G:A p.(Thr820Met) NC_000006.12:34028349:G:A p.(Thr820Met) NC_000006.12:34028349:G:A Identity +NM_005315.2:c.525G>C NP_005306.1:p.Lys175Asn NC_000022.11:19149083:C:G p.(Lys175Asn) NC_000022.11:19149083:C:G p.(Lys175Asn) NC_000022.11:19149083:C:G Identity +NM_001127453.2:c.434A>G NP_001120925.1:p.Gln145Arg NC_000007.14:24719188:T:C p.(Gln145Arg) NC_000007.14:24719188:T:C p.(Gln145Arg) NC_000007.14:24719188:T:C Identity +NM_001018060.3:c.71G>A NP_001018070.1:p.Arg24Gln NC_000022.11:20973345:G:A p.(Arg24Gln) NC_000022.11:20973345:G:A p.(Arg24Gln) NC_000022.11:20973345:G:A Identity +NM_005320.3:c.37G>A NP_005311.1:p.Ala13Thr NC_000006.12:26234896:C:T p.(Ala13Thr) NC_000006.12:26234896:C:T p.(Ala13Thr) NC_000006.12:26234896:C:T Identity +NM_003509.3:c.32C>T NP_003500.1:p.Ala11Val NC_000006.12:27808240:C:T p.(Ala11Val) NC_000006.12:27808240:C:T p.(Ala11Val) NC_000006.12:27808240:C:T Identity +NM_000637.5:c.878C>T NP_000628.2:p.Ser293Phe NC_000008.11:30692972:G:A p.(Ser293Phe) NC_000008.11:30692972:G:A p.(Ser293Phe) NC_000008.11:30692972:G:A Identity +NM_000847.5:c.615G>C NP_000838.3:p.Lys205Asn NC_000006.12:52896859:C:G p.(Lys205Asn) NC_000006.12:52896859:C:G p.(Lys205Asn) NC_000006.12:52896859:C:G Identity +NM_001282587.2:c.1650G>A NP_001269516.1:p.Met550Ile NC_000001.11:9264109:G:A p.(Met550Ile) NC_000001.11:9264109:G:A p.(Met550Ile) NC_000001.11:9264109:G:A Identity +NM_001177660.3:c.884C>T NP_001171131.1:p.Thr295Met NC_000010.11:113581998:C:T p.(Thr295Met) NC_000010.11:113581998:C:T p.(Thr295Met) NC_000010.11:113581998:C:T Identity +NM_001258333.2:c.926C>T NP_001245262.1:p.Ser309Leu NC_000012.12:95978047:G:A p.(Ser309Leu) NC_000012.12:95978047:G:A p.(Ser309Leu) NC_000012.12:95978047:G:A Identity +NM_021817.3:c.692G>C NP_068589.1:p.Arg231Pro NC_000001.11:156624735:G:C p.(Arg231Pro) NC_000001.11:156624735:G:C p.(Arg231Pro) NC_000001.11:156624735:G:C Identity +NM_003528.3:c.285C>G NP_003519.1:p.Ile95Met NC_000001.11:149886355:G:C p.(Ile95Met) NC_000001.11:149886355:G:C p.(Ile95Met) NC_000001.11:149886355:G:C Identity +NM_003544.3:c.162G>T NP_003535.1:p.Glu54Asp NC_000006.12:26027090:C:A p.(Glu54Asp) NC_000006.12:26027090:C:A p.(Glu54Asp) NC_000006.12:26027090:C:A Identity +NM_000637.5:c.1493G>T NP_000628.2:p.Gly498Val NC_000008.11:30679595:C:A p.(Gly498Val) NC_000008.11:30679595:C:A p.(Gly498Val) NC_000008.11:30679595:C:A Identity +NM_001206774.2:c.629C>T NP_001193703.1:p.Ala210Val NC_000002.12:196789976:G:A p.(Ala210Val) NC_000002.12:196789976:G:A p.(Ala210Val) NC_000002.12:196789976:G:A Identity +NM_016426.7:c.321A>C NP_057510.5:p.Leu107Phe NC_000022.11:46308501:A:C p.(Leu107Phe) NC_000022.11:46308501:A:C p.(Leu107Phe) NC_000022.11:46308501:A:C Identity +NM_001289097.2:c.297G>C NP_001276026.1:p.Leu99Phe NC_000014.9:22981969:C:G p.(Leu99Phe) NC_000014.9:22981969:C:G p.(Leu99Phe) NC_000014.9:22981969:C:G Identity +NM_018672.5:c.1067T>A NP_061142.2:p.Val356Glu NC_000017.11:69302769:A:T p.(Val356Glu) NC_000017.11:69302769:A:T p.(Val356Glu) NC_000017.11:69302769:A:T Identity +NM_001018837.2:c.316C>T NP_001018238.1:p.Pro106Ser NC_000001.11:154273916:C:T p.(Pro106Ser) NC_000001.11:154273916:C:T p.(Pro106Ser) NC_000001.11:154273916:C:T Identity +NM_001010915.5:c.173G>C NP_001010915.2:p.Gly58Ala NC_000009.12:21026692:C:G p.(Gly58Ala) NC_000009.12:21026692:C:G p.(Gly58Ala) NC_000009.12:21026692:C:G Identity +NM_001145128.3:c.1929G>T NP_001138600.2:p.Leu643Phe NC_000006.12:109585985:C:A p.(Leu643Phe) NC_000006.12:109585985:C:A p.(Leu643Phe) NC_000006.12:109585985:C:A Identity +NM_001286242.2:c.5002A>C NP_001273171.1:p.Ile1668Leu NC_000016.10:27469362:T:G p.(Ile1668Leu) NC_000016.10:27469362:T:G p.(Ile1668Leu) NC_000016.10:27469362:T:G Identity +NM_001042478.2:c.398C>T NP_001035943.1:p.Ser133Leu NC_000001.11:4712267:C:T p.(Ser133Leu) NC_000001.11:4712267:C:T p.(Ser133Leu) NC_000001.11:4712267:C:T Identity +NM_020897.3:c.1363G>A NP_065948.1:p.Val455Met NC_000001.11:155285849:G:A p.(Val455Met) NC_000001.11:155285849:G:A p.(Val455Met) NC_000001.11:155285849:G:A Identity +NM_016248.4:c.1490G>A NP_057332.1:p.Cys497Tyr NC_000013.11:42300235:G:A p.(Cys497Tyr) NC_000013.11:42300235:G:A p.(Cys497Tyr) NC_000013.11:42300235:G:A Identity +NM_001306146.2:c.551G>A NP_001293075.1:p.Arg184Gln NC_000015.10:50254554:C:T p.(Arg184Gln) NC_000015.10:50254554:C:T p.(Arg184Gln) NC_000015.10:50254554:C:T Identity +NM_138574.4:c.209A>G NP_612641.2:p.Asn70Ser NC_000006.12:22569783:A:G p.(Asn70Ser) NC_000006.12:22569783:A:G p.(Asn70Ser) NC_000006.12:22569783:A:G Identity +NM_005325.4:c.155C>T NP_005316.1:p.Ser52Phe NC_000006.12:26017577:G:A p.(Ser52Phe) NC_000006.12:26017577:G:A p.(Ser52Phe) NC_000006.12:26017577:G:A Identity +NM_005319.4:c.109G>A NP_005310.1:p.Gly37Ser NC_000006.12:26056319:C:T p.(Gly37Ser) NC_000006.12:26056319:C:T p.(Gly37Ser) NC_000006.12:26056319:C:T Identity +NM_012093.4:c.1279G>A NP_036225.2:p.Gly427Arg NC_000001.11:77521871:G:A p.(Gly427Arg) NC_000001.11:77521871:G:A p.(Gly427Arg) NC_000001.11:77521871:G:A Identity +NM_005320.3:c.22G>A NP_005311.1:p.Ala8Thr NC_000006.12:26234911:C:T p.(Ala8Thr) NC_000006.12:26234911:C:T p.(Ala8Thr) NC_000006.12:26234911:C:T Identity +NM_000180.4:c.1417G>A NP_000171.1:p.Val473Met NC_000017.11:8007097:G:A p.(Val473Met) NC_000017.11:8007097:G:A p.(Val473Met) NC_000017.11:8007097:G:A Identity +NM_018672.5:c.1229A>G NP_061142.2:p.Tyr410Cys NC_000017.11:69301176:T:C p.(Tyr410Cys) NC_000017.11:69301176:T:C p.(Tyr410Cys) NC_000017.11:69301176:T:C Identity +NM_005319.4:c.403G>C NP_005310.1:p.Ala135Pro NC_000006.12:26056025:C:G p.(Ala135Pro) NC_000006.12:26056025:C:G p.(Ala135Pro) NC_000006.12:26056025:C:G Identity +NM_005320.3:c.212G>C NP_005311.1:p.Gly71Ala NC_000006.12:26234721:C:G p.(Gly71Ala) NC_000006.12:26234721:C:G p.(Gly71Ala) NC_000006.12:26234721:C:G Identity +NM_005321.3:c.366G>T NP_005312.1:p.Lys122Asn NC_000006.12:26156755:G:T p.(Lys122Asn) NC_000006.12:26156755:G:T p.(Lys122Asn) NC_000006.12:26156755:G:T Identity +NM_005321.3:c.49A>G NP_005312.1:p.Lys17Glu NC_000006.12:26156438:A:G p.(Lys17Glu) NC_000006.12:26156438:A:G p.(Lys17Glu) NC_000006.12:26156438:A:G Identity +NM_005321.3:c.562C>T NP_005312.1:p.Pro188Ser NC_000006.12:26156951:C:T p.(Pro188Ser) NC_000006.12:26156951:C:T p.(Pro188Ser) NC_000006.12:26156951:C:T Identity +NM_005321.3:c.94A>C NP_005312.1:p.Lys32Gln NC_000006.12:26156483:A:C p.(Lys32Gln) NC_000006.12:26156483:A:C p.(Lys32Gln) NC_000006.12:26156483:A:C Identity +NM_001194.4:c.2257G>C NP_001185.3:p.Gly753Arg NC_000019.10:616060:G:C p.(Gly753Arg) NC_000019.10:616060:G:C p.(Gly753Arg) NC_000019.10:616060:G:C Identity +NM_001098415.1:c.932C>T NP_001091885.1:p.Pro311Leu NC_000012.12:47795741:G:A ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001098415.1, alt_ac=NM_001098415.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001098415.1 not found +NM_001411010.1:c.6722A>G NP_001397939.1:p.Tyr2241Cys NC_000014.9:31107008:T:C p.(Tyr2241Cys) NC_000014.9:31107008:T:C p.(Tyr2241Cys) NC_000014.9:31107008:T:C Identity +NM_175055.3:c.88C>T NP_778225.1:p.Arg30Cys NC_000001.11:228458216:C:T p.(Arg30Cys) NC_000001.11:228458216:C:T p.(Arg30Cys) NC_000001.11:228458216:C:T Identity +NM_021062.3:c.39G>C NP_066406.1:p.Lys13Asn NC_000006.12:26043618:C:G p.(Lys13Asn) NC_000006.12:26043618:C:G p.(Lys13Asn) NC_000006.12:26043618:C:G Identity +NM_021062.3:c.80G>A NP_066406.1:p.Gly27Asp NC_000006.12:26043577:C:T p.(Gly27Asp) NC_000006.12:26043577:C:T p.(Gly27Asp) NC_000006.12:26043577:C:T Identity +NM_003533.3:c.258G>C NP_003524.1:p.Gln86His NC_000006.12:27872057:C:G p.(Gln86His) NC_000006.12:27872057:C:G p.(Gln86His) NC_000006.12:27872057:C:G Identity +NM_015473.4:c.5312C>T NP_056288.2:p.Pro1771Leu NC_000014.9:31302446:G:A p.(Pro1771Leu) NC_000014.9:31302446:G:A p.(Pro1771Leu) NC_000014.9:31302446:G:A Identity +NM_001037335.2:c.7796C>T NP_001032412.2:p.Thr2599Met NC_000020.11:63559956:G:A p.(Thr2599Met) NC_000020.11:63559956:G:A p.(Thr2599Met) NC_000020.11:63559956:G:A Identity +NM_001282587.2:c.2182G>A NP_001269516.1:p.Val728Met NC_000001.11:9264641:G:A p.(Val728Met) NC_000001.11:9264641:G:A p.(Val728Met) NC_000001.11:9264641:G:A Identity +NM_001079870.1:c.446C>T NP_001073339.1:p.Ala149Val NC_000017.11:41734188:G:A p.(Ala149Val) NC_000017.11:41734188:G:A p.(Ala149Val) NC_000017.11:41734188:G:A Identity +NM_001109662.4:c.11045A>G NP_001103132.4:p.Glu3682Gly NC_000012.12:112179369:T:C p.(Glu3682Gly) NC_000012.12:112179369:T:C p.(Glu3682Gly) NC_000012.12:112179369:T:C Identity +NM_004667.6:c.9937C>T NP_004658.3:p.Arg3313Cys NC_000015.10:28174514:G:A p.(Arg3313Cys) NC_000015.10:28174514:G:A p.(Arg3313Cys) NC_000015.10:28174514:G:A Identity +NM_016323.4:c.809G>C NP_057407.2:p.Gly270Ala NC_000004.12:88463882:G:C p.(Gly270Ala) NC_000004.12:88463882:G:C p.(Gly270Ala) NC_000004.12:88463882:G:C Identity +NM_022373.5:c.271C>T NP_071768.3:p.Pro91Ser NC_000007.14:35670282:G:A p.(Pro91Ser) NC_000007.14:35670282:G:A p.(Pro91Ser) NC_000007.14:35670282:G:A Identity +NM_012259.3:c.872C>A NP_036391.1:p.Pro291Gln NC_000006.12:125759659:C:A p.(Pro291Gln) NC_000006.12:125759659:C:A p.(Pro291Gln) NC_000006.12:125759659:C:A Identity +NM_006738.6:c.1133G>A NP_006729.4:p.Arg378Lys NC_000015.10:85579200:G:A p.(Arg378Lys) NC_000015.10:85579200:G:A p.(Arg378Lys) NC_000015.10:85579200:G:A Identity +NM_001098672.2:c.1283A>G NP_001092142.1:p.Tyr428Cys NC_000011.10:94073074:A:G p.(Tyr428Cys) NC_000011.10:94073074:A:G p.(Tyr428Cys) NC_000011.10:94073074:A:G Identity +NM_001098672.2:c.1484A>T NP_001092142.1:p.Asp495Val NC_000011.10:94073418:A:T p.(Asp495Val) NC_000011.10:94073418:A:T p.(Asp495Val) NC_000011.10:94073418:A:T Identity +NM_001244262.2:c.1569A>T NP_001231191.1:p.Gln523His NC_000007.14:107201424:A:T p.(Gln523His) NC_000007.14:107201424:A:T p.(Gln523His) NC_000007.14:107201424:A:T Identity +NM_001297439.2:c.533C>A NP_001284368.1:p.Thr178Asn NC_000004.12:3444095:C:A p.(Thr178Asn) NC_000004.12:3444095:C:A p.(Thr178Asn) NC_000004.12:3444095:C:A Identity +NM_024746.4:c.1688G>A NP_079022.2:p.Ser563Asn NC_000001.11:222532000:C:T p.(Ser563Asn) NC_000001.11:222532000:C:T p.(Ser563Asn) NC_000001.11:222532000:C:T Identity +NM_152740.4:c.68C>T NP_689953.1:p.Pro23Leu NC_000007.14:27662720:G:A p.(Pro23Leu) NC_000007.14:27662720:G:A p.(Pro23Leu) NC_000007.14:27662720:G:A Identity +NM_001330542.2:c.1110A>G NP_001317471.1:p.Thr370= NC_000017.11:82441212:A:G p.(Thr370=) NC_000017.11:82441212:A:G p.(Thr370=) NC_000017.11:82441212:A:G Identity +NM_170610.3:c.31A>G NP_733759.1:p.Ile11Val NC_000006.12:25726938:A:G p.(Ile11Val) NC_000006.12:25726938:A:G p.(Ile11Val) NC_000006.12:25726938:A:G Identity +NM_003546.3:c.4T>C NP_003537.1:p.Ser2Pro NC_000006.12:27873506:A:G p.(Ser2Pro) NC_000006.12:27873506:A:G p.(Ser2Pro) NC_000006.12:27873506:A:G Identity +NM_021072.4:c.181G>A NP_066550.2:p.Val61Met NC_000005.10:45695912:C:T p.(Val61Met) NC_000005.10:45695912:C:T p.(Val61Met) NC_000005.10:45695912:C:T Identity +NM_001321225.2:c.2525G>A NP_001308154.1:p.Arg842His NC_000023.11:48822764:G:A p.(Arg842His) NC_000023.11:48822764:G:A p.(Arg842His) NC_000023.11:48822764:G:A Identity +NM_031935.3:c.10030G>A NP_114141.2:p.Gly3344Ser NC_000001.11:186093502:G:A p.(Gly3344Ser) NC_000001.11:186093502:G:A p.(Gly3344Ser) NC_000001.11:186093502:G:A Identity +NM_031935.3:c.136T>A NP_114141.2:p.Phe46Ile NC_000001.11:185734914:T:A p.(Phe46Ile) NC_000001.11:185734914:T:A p.(Phe46Ile) NC_000001.11:185734914:T:A Identity +NM_001201362.2:c.95C>T NP_001188291.1:p.Ala32Val NC_000006.12:79208547:G:A p.(Ala32Val) NC_000006.12:79208547:G:A p.(Ala32Val) NC_000006.12:79208547:G:A Identity +NM_022475.3:c.590A>G NP_071920.1:p.Asp197Gly NC_000004.12:144658906:A:G p.(Asp197Gly) NC_000004.12:144658906:A:G p.(Asp197Gly) NC_000004.12:144658906:A:G Identity +NM_001003681.3:c.509A>G NP_001003681.1:p.Lys170Arg NC_000022.11:35264896:A:G p.(Lys170Arg) NC_000022.11:35264896:A:G p.(Lys170Arg) NC_000022.11:35264896:A:G Identity +NM_005519.2:c.797A>G NP_005510.1:p.Asn266Ser NC_000010.11:123150097:A:G p.(Asn266Ser) NC_000010.11:123150097:A:G p.(Asn266Ser) NC_000010.11:123150097:A:G Identity +NM_004839.4:c.650A>C NP_004830.2:p.Lys217Thr NC_000015.10:82854644:T:G p.(Lys217Thr) NC_000015.10:82854644:T:G p.(Lys217Thr) NC_000015.10:82854644:T:G Identity +NM_001010849.1:c.440C>T NP_001010849.1:p.Thr147Ile NC_000014.9:23276715:G:A ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001010849.1, alt_ac=NM_001010849.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001010849.1 not found +NM_017829.6:c.1012C>A NP_060299.4:p.Pro338Thr NC_000022.11:17138190:G:T p.(Pro338Thr) NC_000022.11:17138190:G:T p.(Pro338Thr) NC_000022.11:17138190:G:T Identity +NM_018072.6:c.3274A>G NP_060542.4:p.Thr1092Ala NC_000001.11:236574713:T:C p.(Thr1092Ala) NC_000001.11:236574713:T:C p.(Thr1092Ala) NC_000001.11:236574713:T:C Identity +NM_015473.4:c.1117C>T NP_056288.2:p.Leu373Phe NC_000014.9:31387191:G:A p.(Leu373Phe) NC_000014.9:31387191:G:A p.(Leu373Phe) NC_000014.9:31387191:G:A Identity +NM_001113239.3:c.251T>C NP_001106710.1:p.Ile84Thr NC_000007.14:139716783:A:G p.(Ile84Thr) NC_000007.14:139716783:A:G p.(Ile84Thr) NC_000007.14:139716783:A:G Identity +NM_144685.5:c.490A>G NP_653286.2:p.Ile164Val NC_000019.10:40384114:T:C p.(Ile164Val) NC_000019.10:40384114:T:C p.(Ile164Val) NC_000019.10:40384114:T:C Identity +NM_001307952.2:c.1239G>C NP_001294881.1:p.Leu413Phe NC_000015.10:88877999:C:G p.(Leu413Phe) NC_000015.10:88877999:C:G p.(Leu413Phe) NC_000015.10:88877999:C:G Identity +NM_031965.2:c.818G>T NP_114171.2:p.Arg273Met NC_000017.11:3724752:G:T p.(Arg273Met) NC_000017.11:3724752:G:T p.(Arg273Met) NC_000017.11:3724752:G:T Identity +NM_032756.4:c.339G>C NP_116145.1:p.Gln113His NC_000001.11:45327486:G:C p.(Gln113His) NC_000001.11:45327486:G:C p.(Gln113His) NC_000001.11:45327486:G:C Identity +NM_001039792.2:c.248C>T NP_001034881.1:p.Pro83Leu NC_000009.12:35906534:C:T p.(Pro83Leu) NC_000009.12:35906534:C:T p.(Pro83Leu) NC_000009.12:35906534:C:T Identity +NM_001385651.1:c.244G>T NP_001372580.1:p.Ala82Ser NC_000019.10:38849722:C:A p.(Ala82Ser) NC_000019.10:38849722:C:A p.(Ala82Ser) NC_000019.10:38849722:C:A Identity +NM_001159286.2:c.1324A>G NP_001152758.1:p.Lys442Glu NC_000022.11:50247729:T:C p.(Lys442Glu) NC_000022.11:50247729:T:C p.(Lys442Glu) NC_000022.11:50247729:T:C Identity +NM_006043.2:c.955T>A NP_006034.1:p.Ser319Thr NC_000016.10:22915412:T:A p.(Ser319Thr) NC_000016.10:22915412:T:A p.(Ser319Thr) NC_000016.10:22915412:T:A Identity +NM_000413.4:c.763T>A NP_000404.2:p.Phe255Ile NC_000017.11:42554713:T:A p.(Phe255Ile) NC_000017.11:42554713:T:A p.(Phe255Ile) NC_000017.11:42554713:T:A Identity +NM_001037335.2:c.1435C>T NP_001032412.2:p.Arg479Cys NC_000020.11:63568652:G:A p.(Arg479Cys) NC_000020.11:63568652:G:A p.(Arg479Cys) NC_000020.11:63568652:G:A Identity +NM_001037335.2:c.4646T>A NP_001032412.2:p.Val1549Asp NC_000020.11:63564175:A:T p.(Val1549Asp) NC_000020.11:63564175:A:T p.(Val1549Asp) NC_000020.11:63564175:A:T Identity +NM_001098672.2:c.1396G>A NP_001092142.1:p.Gly466Ser NC_000011.10:94073330:G:A p.(Gly466Ser) NC_000011.10:94073330:G:A p.(Gly466Ser) NC_000011.10:94073330:G:A Identity +NM_001098672.2:c.2638A>G NP_001092142.1:p.Asn880Asp NC_000011.10:94102975:A:G p.(Asn880Asp) NC_000011.10:94102975:A:G p.(Asn880Asp) NC_000011.10:94102975:A:G Identity +NM_003922.4:c.7499A>T NP_003913.3:p.Gln2500Leu NC_000015.10:63674688:T:A p.(Gln2500Leu) NC_000015.10:63674688:T:A p.(Gln2500Leu) NC_000015.10:63674688:T:A Identity +NM_001384335.1:c.632A>T NP_001371264.1:p.His211Leu NC_000007.14:27108614:T:A p.(His211Leu) NC_000007.14:27108614:T:A p.(His211Leu) NC_000007.14:27108614:T:A Identity +NM_001040667.3:c.364C>A NP_001035757.1:p.Pro122Thr NC_000016.10:67165948:C:A p.(Pro122Thr) NC_000016.10:67165948:C:A p.(Pro122Thr) NC_000016.10:67165948:C:A Identity +NM_001387931.1:c.216G>C NP_001374860.1:p.Lys72Asn NC_000014.9:64541064:G:C p.(Lys72Asn) NC_000014.9:64541064:G:C p.(Lys72Asn) NC_000014.9:64541064:G:C Identity +NM_001126102.3:c.968C>T NP_001119574.1:p.Ala323Val NC_000016.10:72060813:C:T p.(Ala323Val) NC_000016.10:72060813:C:T p.(Ala323Val) NC_000016.10:72060813:C:T Identity +NM_001126102.3:c.482C>T NP_001119574.1:p.Thr161Ile NC_000016.10:72060327:C:T p.(Thr161Ile) NC_000016.10:72060327:C:T p.(Thr161Ile) NC_000016.10:72060327:C:T Identity +NM_001098540.3:c.67C>T NP_001092010.1:p.Pro23Ser NC_000004.12:83334715:G:A p.(Pro23Ser) NC_000004.12:83334715:G:A p.(Pro23Ser) NC_000004.12:83334715:G:A Identity +NM_005144.5:c.100G>A NP_005135.2:p.Asp34Asn NC_000008.11:22129070:C:T p.(Asp34Asn) NC_000008.11:22129070:C:T p.(Asp34Asn) NC_000008.11:22129070:C:T Identity +NM_005144.5:c.2525C>A NP_005135.2:p.Pro842Gln NC_000008.11:22120800:G:T p.(Pro842Gln) NC_000008.11:22120800:G:T p.(Pro842Gln) NC_000008.11:22120800:G:T Identity +NM_033070.3:c.16T>C NP_149061.1:p.Cys6Arg NC_000022.11:17159235:A:G p.(Cys6Arg) NC_000022.11:17159235:A:G p.(Cys6Arg) NC_000022.11:17159235:A:G Identity +NM_017829.6:c.107C>T NP_060299.4:p.Ala36Val NC_000022.11:17149674:G:A p.(Ala36Val) NC_000022.11:17149674:G:A p.(Ala36Val) NC_000022.11:17149674:G:A Identity +NM_015473.4:c.3754T>G NP_056288.2:p.Leu1252Val NC_000014.9:31323597:A:C p.(Leu1252Val) NC_000014.9:31323597:A:C p.(Leu1252Val) NC_000014.9:31323597:A:C Identity +NM_015473.4:c.581G>A NP_056288.2:p.Arg194His NC_000014.9:31395214:C:T p.(Arg194His) NC_000014.9:31395214:C:T p.(Arg194His) NC_000014.9:31395214:C:T Identity +NM_016248.4:c.581T>C NP_057332.1:p.Leu194Ser NC_000013.11:42298761:T:C p.(Leu194Ser) NC_000013.11:42298761:T:C p.(Leu194Ser) NC_000013.11:42298761:T:C Identity +NM_000864.5:c.867G>T NP_000855.1:p.Lys289Asn NC_000001.11:23193352:C:A p.(Lys289Asn) NC_000001.11:23193352:C:A p.(Lys289Asn) NC_000001.11:23193352:C:A Identity +NM_000867.5:c.766C>T NP_000858.3:p.Pro256Ser NC_000002.12:231109196:G:A p.(Pro256Ser) NC_000002.12:231109196:G:A p.(Pro256Ser) NC_000002.12:231109196:G:A Identity +NM_016323.4:c.1490C>G NP_057407.2:p.Pro497Arg NC_000004.12:88475937:C:G p.(Pro497Arg) NC_000004.12:88475937:C:G p.(Pro497Arg) NC_000004.12:88475937:C:G Identity +NM_001330542.2:c.1370G>A NP_001317471.1:p.Arg457Gln NC_000017.11:82442292:G:A p.(Arg457Gln) NC_000017.11:82442292:G:A p.(Arg457Gln) NC_000017.11:82442292:G:A Identity +NM_173620.3:c.1712G>A NP_775891.2:p.Arg571Lys NC_000017.11:82442545:G:A p.(Arg571Lys) NC_000017.11:82442545:G:A p.(Arg571Lys) NC_000017.11:82442545:G:A Identity +NM_006460.3:c.13T>C NP_006451.1:p.Phe5Leu NC_000017.11:45149202:T:C p.(Phe5Leu) NC_000017.11:45149202:T:C p.(Phe5Leu) NC_000017.11:45149202:T:C Identity +NM_006040.3:c.236C>T NP_006031.2:p.Pro79Leu NC_000016.10:25692652:C:T p.(Pro79Leu) NC_000016.10:25692652:C:T p.(Pro79Leu) NC_000016.10:25692652:C:T Identity +NM_002153.3:c.654C>G NP_002144.1:p.Ser218Arg NC_000016.10:82071116:C:G p.(Ser218Arg) NC_000016.10:82071116:C:G p.(Ser218Arg) NC_000016.10:82071116:C:G Identity +NM_001287059.2:c.146A>G NP_001273988.1:p.His49Arg NC_000007.14:43311880:A:G p.(His49Arg) NC_000007.14:43311880:A:G p.(His49Arg) NC_000007.14:43311880:A:G Identity +NM_020733.2:c.2432C>T NP_065784.1:p.Thr811Ile NC_000003.12:125013146:G:A p.(Thr811Ile) NC_000003.12:125013146:G:A p.(Thr811Ile) NC_000003.12:125013146:G:A Identity +NM_032581.4:c.1010G>A NP_115970.2:p.Gly337Asp NC_000007.14:22946144:C:T p.(Gly337Asp) NC_000007.14:22946144:C:T p.(Gly337Asp) NC_000007.14:22946144:C:T Identity +NM_001353.6:c.827G>T NP_001344.2:p.Arg276Leu NC_000010.11:4972729:G:T p.(Arg276Leu) NC_000010.11:4972729:G:T p.(Arg276Leu) NC_000010.11:4972729:G:T Identity +NM_001145095.3:c.197C>T NP_001138567.1:p.Thr66Met NC_000008.11:132100076:G:A p.(Thr66Met) NC_000008.11:132100076:G:A p.(Thr66Met) NC_000008.11:132100076:G:A Identity +NM_001080439.3:c.1576C>T NP_001073908.2:p.Arg526Cys NC_000017.11:58458911:G:A p.(Arg526Cys) NC_000017.11:58458911:G:A p.(Arg526Cys) NC_000017.11:58458911:G:A Identity +NM_005527.4:c.1588G>A NP_005518.3:p.Glu530Lys NC_000006.12:31810384:C:T p.(Glu530Lys) NC_000006.12:31810384:C:T p.(Glu530Lys) NC_000006.12:31810384:C:T Identity +NM_002155.5:c.1283A>G NP_002146.2:p.Gln428Arg NC_000001.11:161525940:A:G p.(Gln428Arg) NC_000001.11:161525940:A:G p.(Gln428Arg) NC_000001.11:161525940:A:G Identity +NM_018437.5:c.1109C>T NP_060907.2:p.Thr370Met NC_000009.12:97930285:G:A p.(Thr370Met) NC_000009.12:97930285:G:A p.(Thr370Met) NC_000009.12:97930285:G:A Identity +NM_003922.4:c.6803A>C NP_003913.3:p.Glu2268Ala NC_000015.10:63678111:T:G p.(Glu2268Ala) NC_000015.10:63678111:T:G p.(Glu2268Ala) NC_000015.10:63678111:T:G Identity +NM_003259.4:c.2128C>T NP_003250.3:p.Pro710Ser NC_000019.10:10294537:C:T p.(Pro710Ser) NC_000019.10:10294537:C:T p.(Pro710Ser) NC_000019.10:10294537:C:T Identity +NM_015325.3:c.3073G>T NP_056140.1:p.Gly1025Trp NC_000005.10:5462406:G:T p.(Gly1025Trp) NC_000005.10:5462406:G:T p.(Gly1025Trp) NC_000005.10:5462406:G:T Identity +NM_001276385.2:c.254T>C NP_001263314.1:p.Val85Ala NC_000015.10:60468214:A:G p.(Val85Ala) NC_000015.10:60468214:A:G p.(Val85Ala) NC_000015.10:60468214:A:G Identity +NM_001258384.3:c.325G>C NP_001245313.1:p.Val109Leu NC_000020.11:2663457:C:G p.(Val109Leu) NC_000020.11:2663457:C:G p.(Val109Leu) NC_000020.11:2663457:C:G Identity +NM_001369806.1:c.3161C>T NP_001356735.1:p.Ala1054Val NC_000001.11:113973039:C:T p.(Ala1054Val) NC_000001.11:113973039:C:T p.(Ala1054Val) NC_000001.11:113973039:C:T Identity +NM_001048200.3:c.3230A>G NP_001041665.1:p.Asn1077Ser NC_000011.10:33353212:A:G p.(Asn1077Ser) NC_000011.10:33353212:A:G p.(Asn1077Ser) NC_000011.10:33353212:A:G Identity +NM_002114.4:c.3653A>G NP_002105.3:p.His1218Arg NC_000006.12:12123447:A:G p.(His1218Arg) NC_000006.12:12123447:A:G p.(His1218Arg) NC_000006.12:12123447:A:G Identity +NM_001163280.2:c.1837G>A NP_001156752.1:p.Glu613Lys NC_000023.11:136511581:G:A p.(Glu613Lys) NC_000023.11:136511581:G:A p.(Glu613Lys) NC_000023.11:136511581:G:A Identity +NM_002171.2:c.523C>T NP_002162.1:p.Leu175Phe NC_000009.12:21206574:G:A p.(Leu175Phe) NC_000009.12:21206574:G:A p.(Leu175Phe) NC_000009.12:21206574:G:A Identity +NM_002170.4:c.52T>C NP_002161.2:p.Ser18Pro NC_000009.12:21409227:T:C p.(Ser18Pro) NC_000009.12:21409227:T:C p.(Ser18Pro) NC_000009.12:21409227:T:C Identity +NM_001007245.3:c.1055C>G NP_001007246.1:p.Pro352Arg NC_000007.14:112472231:C:G p.(Pro352Arg) NC_000007.14:112472231:C:G p.(Pro352Arg) NC_000007.14:112472231:C:G Identity +NM_004667.6:c.2214G>T NP_004658.3:p.Gln738His NC_000015.10:28260878:C:A p.(Gln738His) NC_000015.10:28260878:C:A p.(Gln738His) NC_000015.10:28260878:C:A Identity +NM_016323.4:c.2681A>C NP_057407.2:p.Glu894Ala NC_000004.12:88504329:A:C p.(Glu894Ala) NC_000004.12:88504329:A:C p.(Glu894Ala) NC_000004.12:88504329:A:C Identity +NM_001165136.2:c.1489T>C NP_001158608.1:p.Trp497Arg NC_000004.12:88413196:T:C p.(Trp497Arg) NC_000004.12:88413196:T:C p.(Trp497Arg) NC_000004.12:88413196:T:C Identity +NM_001330542.2:c.853G>A NP_001317471.1:p.Gly285Arg NC_000017.11:82437316:G:A p.(Gly285Arg) NC_000017.11:82437316:G:A p.(Gly285Arg) NC_000017.11:82437316:G:A Identity +NM_000188.3:c.2008C>A NP_000179.2:p.Pro670Thr NC_000010.11:69389268:C:A p.(Pro670Thr) NC_000010.11:69389268:C:A p.(Pro670Thr) NC_000010.11:69389268:C:A Identity +NM_004884.4:c.44C>G NP_004875.2:p.Pro15Arg NC_000015.10:65377744:G:C p.(Pro15Arg) NC_000015.10:65377744:G:C p.(Pro15Arg) NC_000015.10:65377744:G:C Identity +NM_020962.3:c.1043G>C NP_066013.1:p.Arg348Pro NC_000015.10:65396117:C:G p.(Arg348Pro) NC_000015.10:65396117:C:G p.(Arg348Pro) NC_000015.10:65396117:C:G Identity +NM_000876.4:c.209G>A NP_000867.3:p.Gly70Glu NC_000006.12:159991242:G:A p.(Gly70Glu) NC_000006.12:159991242:G:A p.(Gly70Glu) NC_000006.12:159991242:G:A Identity +NM_001013619.4:c.388C>T NP_001013641.2:p.Pro130Ser NC_000015.10:78515017:C:T p.(Pro130Ser) NC_000015.10:78515017:C:T p.(Pro130Ser) NC_000015.10:78515017:C:T Identity +NM_001374299.1:c.1341T>G NP_001361228.1:p.Asn447Lys NC_000009.12:92268263:A:C p.(Asn447Lys) NC_000009.12:92268263:A:C p.(Asn447Lys) NC_000009.12:92268263:A:C Identity +NM_001321027.2:c.748C>T NP_001307956.1:p.Arg250Cys NC_000010.11:4995338:G:A p.(Arg250Cys) NC_000010.11:4995338:G:A p.(Arg250Cys) NC_000010.11:4995338:G:A Identity +NM_001164586.2:c.6488G>A NP_001158058.1:p.Gly2163Asp NC_000001.11:201211380:G:A p.(Gly2163Asp) NC_000001.11:201211380:G:A p.(Gly2163Asp) NC_000001.11:201211380:G:A Identity +NM_001385060.1:c.193G>A NP_001371989.1:p.Gly65Arg NC_000003.12:151458516:C:T p.(Gly65Arg) NC_000003.12:151458516:C:T p.(Gly65Arg) NC_000003.12:151458516:C:T Identity +NM_001297439.2:c.1748A>C NP_001284368.1:p.Asp583Ala NC_000004.12:3448217:A:C p.(Asp583Ala) NC_000004.12:3448217:A:C p.(Asp583Ala) NC_000004.12:3448217:A:C Identity +NM_001270546.1:c.4235C>T NP_001257475.1:p.Thr1412Ile NC_000015.10:85743804:C:T p.(Thr1412Ile) NC_000015.10:85743804:C:T p.(Thr1412Ile) NC_000015.10:85743804:C:T Identity +NM_015094.3:c.839C>T NP_055909.2:p.Ser280Leu NC_000022.11:21445733:C:T p.(Ser280Leu) NC_000022.11:21445733:C:T p.(Ser280Leu) NC_000022.11:21445733:C:T Identity +NM_001320606.2:c.497T>C NP_001307535.1:p.Leu166Pro NC_000019.10:10335274:A:G p.(Leu166Pro) NC_000019.10:10335274:A:G p.(Leu166Pro) NC_000019.10:10335274:A:G Identity +NM_001001551.4:c.460A>T NP_001001551.2:p.Thr154Ser NC_000009.12:83643675:A:T p.(Thr154Ser) NC_000009.12:83643675:A:T p.(Thr154Ser) NC_000009.12:83643675:A:T Identity +NM_001178145.3:c.868T>G NP_001171616.2:p.Phe290Val NC_000003.12:151437629:A:C p.(Phe290Val) NC_000003.12:151437629:A:C p.(Phe290Val) NC_000003.12:151437629:A:C Identity +NM_000693.4:c.170G>A NP_000684.2:p.Arg57Gln NC_000015.10:100885336:G:A p.(Arg57Gln) NC_000015.10:100885336:G:A p.(Arg57Gln) NC_000015.10:100885336:G:A Identity +NM_153687.4:c.332C>T NP_710154.1:p.Thr111Ile NC_000012.12:98626731:G:A p.(Thr111Ile) NC_000012.12:98626731:G:A p.(Thr111Ile) NC_000012.12:98626731:G:A Identity +NM_001366501.2:c.1676A>G NP_001353430.1:p.Asn559Ser NC_000005.10:150036825:A:G p.(Asn559Ser) NC_000005.10:150036825:A:G p.(Asn559Ser) NC_000005.10:150036825:A:G Identity +NM_001366501.2:c.3175G>A NP_001353430.1:p.Ala1059Thr NC_000005.10:150051985:G:A p.(Ala1059Thr) NC_000005.10:150051985:G:A p.(Ala1059Thr) NC_000005.10:150051985:G:A Identity +NM_006417.5:c.820A>G NP_006408.3:p.Asn274Asp NC_000001.11:78655490:A:G p.(Asn274Asp) NC_000001.11:78655490:A:G p.(Asn274Asp) NC_000001.11:78655490:A:G Identity +NM_006435.3:c.148G>A NP_006426.2:p.Glu50Lys NC_000011.10:308339:G:A p.(Glu50Lys) NC_000011.10:308339:G:A p.(Glu50Lys) NC_000011.10:308339:G:A Identity +NM_001351089.2:c.1271G>C NP_001338018.1:p.Gly424Ala NC_000012.12:56034843:G:C p.(Gly424Ala) NC_000012.12:56034843:G:C p.(Gly424Ala) NC_000012.12:56034843:G:C Identity +NM_001100176.2:c.1057C>T NP_001093646.1:p.Arg353Cys NC_000019.10:12769927:G:A p.(Arg353Cys) NC_000019.10:12769927:G:A p.(Arg353Cys) NC_000019.10:12769927:G:A Identity +NM_001329457.2:c.52G>A NP_001316386.1:p.Glu18Lys NC_000022.11:30098851:G:A p.(Glu18Lys) NC_000022.11:30098851:G:A p.(Glu18Lys) NC_000022.11:30098851:G:A Identity +NM_006896.4:c.622G>A NP_008827.2:p.Ala208Thr NC_000007.14:27154979:C:T p.(Ala208Thr) NC_000007.14:27154979:C:T p.(Ala208Thr) NC_000007.14:27154979:C:T Identity +NM_001330322.2:c.1009C>G NP_001317251.1:p.Leu337Val NC_000017.11:48550401:G:C p.(Leu337Val) NC_000017.11:48550401:G:C p.(Leu337Val) NC_000017.11:48550401:G:C Identity +NM_001291478.2:c.488A>G NP_001278407.1:p.Gln163Arg NC_000019.10:15401294:T:C p.(Gln163Arg) NC_000019.10:15401294:T:C p.(Gln163Arg) NC_000019.10:15401294:T:C Identity +NM_014714.4:c.3391G>A NP_055529.2:p.Asp1131Asn NC_000016.10:1523579:C:T p.(Asp1131Asn) NC_000016.10:1523579:C:T p.(Asp1131Asn) NC_000016.10:1523579:C:T Identity +NM_004884.4:c.386G>A NP_004875.2:p.Arg129Gln NC_000015.10:65375119:C:T p.(Arg129Gln) NC_000015.10:65375119:C:T p.(Arg129Gln) NC_000015.10:65375119:C:T Identity +NM_001303097.2:c.763G>A NP_001290026.1:p.Glu255Lys NC_000012.12:122854948:G:A p.(Glu255Lys) NC_000012.12:122854948:G:A p.(Glu255Lys) NC_000012.12:122854948:G:A Identity +NM_014485.3:c.339G>C NP_055300.1:p.Glu113Asp NC_000004.12:94302241:C:G p.(Glu113Asp) NC_000004.12:94302241:C:G p.(Glu113Asp) NC_000004.12:94302241:C:G Identity +NM_001349896.1:c.1694G>A NP_001336825.1:p.Ser565Asn NC_000022.11:26463935:C:T p.(Ser565Asn) NC_000022.11:26463935:C:T p.(Ser565Asn) NC_000022.11:26463935:C:T Identity +NM_001098540.3:c.59C>G NP_001092010.1:p.Pro20Arg NC_000004.12:83334723:G:C p.(Pro20Arg) NC_000004.12:83334723:G:C p.(Pro20Arg) NC_000004.12:83334723:G:C Identity +NM_000613.3:c.358C>T NP_000604.1:p.Pro120Ser NC_000011.10:6438487:G:A p.(Pro120Ser) NC_000011.10:6438487:G:A p.(Pro120Ser) NC_000011.10:6438487:G:A Identity +NM_002152.3:c.548G>A NP_002143.1:p.Arg183Gln NC_000019.10:49154689:C:T p.(Arg183Gln) NC_000019.10:49154689:C:T p.(Arg183Gln) NC_000019.10:49154689:C:T Identity +NM_001146006.2:c.1355G>A NP_001139478.1:p.Arg452Gln NC_000016.10:1791176:C:T p.(Arg452Gln) NC_000016.10:1791176:C:T p.(Arg452Gln) NC_000016.10:1791176:C:T Identity +NM_001146006.2:c.1094G>A NP_001139478.1:p.Arg365Gln NC_000016.10:1791437:C:T p.(Arg365Gln) NC_000016.10:1791437:C:T p.(Arg365Gln) NC_000016.10:1791437:C:T Identity +NM_001164586.2:c.814C>T NP_001158058.1:p.Arg272Cys NC_000001.11:201203803:C:T p.(Arg272Cys) NC_000001.11:201203803:C:T p.(Arg272Cys) NC_000001.11:201203803:C:T Identity +NM_002180.3:c.1024C>T NP_002171.2:p.Leu342Phe NC_000011.10:68917846:C:T p.(Leu342Phe) NC_000011.10:68917846:C:T p.(Leu342Phe) NC_000011.10:68917846:C:T Identity +NM_001178126.2:c.427C>T NP_001171597.1:p.Pro143Ser NC_000022.11:22895475:C:T p.(Pro143Ser) NC_000022.11:22895475:C:T p.(Pro143Ser) NC_000022.11:22895475:C:T Identity +NM_018402.2:c.172G>A NP_060872.1:p.Glu58Lys NC_000012.12:68225499:C:T p.(Glu58Lys) NC_000012.12:68225499:C:T p.(Glu58Lys) NC_000012.12:68225499:C:T Identity +NM_004843.4:c.326A>G NP_004834.1:p.Lys109Arg NC_000019.10:14039614:A:G p.(Lys109Arg) NC_000019.10:14039614:A:G p.(Lys109Arg) NC_000019.10:14039614:A:G Identity +NM_000588.4:c.449C>T NP_000579.2:p.Ala150Val NC_000005.10:132062780:C:T p.(Ala150Val) NC_000005.10:132062780:C:T p.(Ala150Val) NC_000005.10:132062780:C:T Identity +NM_025130.4:c.1546G>A NP_079406.4:p.Val516Ile NC_000010.11:69248703:G:A p.(Val516Ile) NC_000010.11:69248703:G:A p.(Val516Ile) NC_000010.11:69248703:G:A Identity +NM_025130.4:c.901T>C NP_079406.4:p.Tyr301His NC_000010.11:69246103:T:C p.(Tyr301His) NC_000010.11:69246103:T:C p.(Tyr301His) NC_000010.11:69246103:T:C Identity +NM_014214.3:c.76C>G NP_055029.1:p.Leu26Val NC_000018.10:11981744:C:G p.(Leu26Val) NC_000018.10:11981744:C:G p.(Leu26Val) NC_000018.10:11981744:C:G Identity +NM_001079559.3:c.874G>A NP_001073027.1:p.Val292Ile NC_000011.10:62723603:C:T p.(Val292Ile) NC_000011.10:62723603:C:T p.(Val292Ile) NC_000011.10:62723603:C:T Identity +NM_001387039.1:c.236A>G NP_001373968.1:p.Glu79Gly NC_000006.12:114058061:T:C p.(Glu79Gly) NC_000006.12:114058061:T:C p.(Glu79Gly) NC_000006.12:114058061:T:C Identity +NM_014234.5:c.374C>T NP_055049.1:p.Ala125Val NC_000006.12:33205323:C:T p.(Ala125Val) NC_000006.12:33205323:C:T p.(Ala125Val) NC_000006.12:33205323:C:T Identity +NM_001385221.1:c.458C>G NP_001372150.1:p.Thr153Ser NC_000013.11:20721781:C:G p.(Thr153Ser) NC_000013.11:20721781:C:G p.(Thr153Ser) NC_000013.11:20721781:C:G Identity +NM_001393486.1:c.677C>T NP_001380415.1:p.Ser226Leu NC_000002.12:102437308:C:T p.(Ser226Leu) NC_000002.12:102437308:C:T p.(Ser226Leu) NC_000002.12:102437308:C:T Identity +NM_002195.2:c.9C>A NP_002186.1:p.Ser3Arg NC_000009.12:5231531:C:A p.(Ser3Arg) NC_000009.12:5231531:C:A p.(Ser3Arg) NC_000009.12:5231531:C:A Identity +NM_032410.4:c.822G>C NP_115786.1:p.Glu274Asp NC_000008.11:42966514:G:C p.(Glu274Asp) NC_000008.11:42966514:G:C p.(Glu274Asp) NC_000008.11:42966514:G:C Identity +NM_004502.4:c.217G>A NP_004493.3:p.Val73Ile NC_000017.11:48610701:C:T p.(Val73Ile) NC_000017.11:48610701:C:T p.(Val73Ile) NC_000017.11:48610701:C:T Identity +NM_004843.4:c.1441C>T NP_004834.1:p.Pro481Ser NC_000019.10:14050795:C:T p.(Pro481Ser) NC_000019.10:14050795:C:T p.(Pro481Ser) NC_000019.10:14050795:C:T Identity +NM_001172771.2:c.7C>T NP_001166242.1:p.Arg3Trp NC_000016.10:70646953:C:T p.(Arg3Trp) NC_000016.10:70646953:C:T p.(Arg3Trp) NC_000016.10:70646953:C:T Identity +NM_000589.4:c.349C>G NP_000580.1:p.Leu117Val NC_000005.10:132679878:C:G p.(Leu117Val) NC_000005.10:132679878:C:G p.(Leu117Val) NC_000005.10:132679878:C:G Identity +NM_001258017.2:c.1595C>A NP_001244946.1:p.Pro532His NC_000019.10:49889844:G:T p.(Pro532His) NC_000019.10:49889844:G:T p.(Pro532His) NC_000019.10:49889844:G:T Identity +NM_032303.5:c.461C>G NP_115679.2:p.Pro154Arg NC_000009.12:112416905:C:G p.(Pro154Arg) NC_000009.12:112416905:C:G p.(Pro154Arg) NC_000009.12:112416905:C:G Identity +NM_001040667.3:c.1237G>A NP_001035757.1:p.Asp413Asn NC_000016.10:67169083:G:A p.(Asp413Asn) NC_000016.10:67169083:G:A p.(Asp413Asn) NC_000016.10:67169083:G:A Identity +NM_001317950.2:c.2753C>T NP_001304879.1:p.Ala918Val NC_000009.12:114356955:G:A p.(Ala918Val) NC_000009.12:114356955:G:A p.(Ala918Val) NC_000009.12:114356955:G:A Identity +NM_004134.7:c.1973A>G NP_004125.3:p.Glu658Gly NC_000005.10:138556103:T:C p.(Glu658Gly) NC_000005.10:138556103:T:C p.(Glu658Gly) NC_000005.10:138556103:T:C Identity +NM_001320728.2:c.242T>A NP_001307657.1:p.Met81Lys NC_000003.12:122777728:A:T p.(Met81Lys) NC_000003.12:122777728:A:T p.(Met81Lys) NC_000003.12:122777728:A:T Identity +NM_001256456.2:c.605G>A NP_001243385.1:p.Arg202His NC_000001.11:1314938:C:T p.(Arg202His) NC_000001.11:1314938:C:T p.(Arg202His) NC_000001.11:1314938:C:T Identity +NM_006844.5:c.1557T>A NP_006835.2:p.Phe519Leu NC_000019.10:15115906:A:T p.(Phe519Leu) NC_000019.10:15115906:A:T p.(Phe519Leu) NC_000019.10:15115906:A:T Identity +NM_080284.3:c.1717G>A NP_525023.2:p.Val573Met NC_000017.11:69114826:C:T p.(Val573Met) NC_000017.11:69114826:C:T p.(Val573Met) NC_000017.11:69114826:C:T Identity +NM_002143.3:c.25C>T NP_002134.2:p.Arg9Trp NC_000001.11:32888922:C:T p.(Arg9Trp) NC_000001.11:32888922:C:T p.(Arg9Trp) NC_000001.11:32888922:C:T Identity +NM_001166244.1:c.973G>T NP_001159716.1:p.Val325Leu NC_000010.11:98620659:C:A p.(Val325Leu) NC_000010.11:98620659:C:A p.(Val325Leu) NC_000010.11:98620659:C:A Identity +NM_019099.5:c.182G>T NP_061972.1:p.Gly61Val NC_000001.11:111727679:C:A p.(Gly61Val) NC_000001.11:111727679:C:A p.(Gly61Val) NC_000001.11:111727679:C:A Identity +NM_001365820.1:c.125G>A NP_001352749.1:p.Arg42His NC_000001.11:37945782:C:T p.(Arg42His) NC_000001.11:37945782:C:T p.(Arg42His) NC_000001.11:37945782:C:T Identity +NM_001031853.5:c.1065C>A NP_001027024.3:p.His355Gln NC_000011.10:15221580:C:A p.(His355Gln) NC_000011.10:15221580:C:A p.(His355Gln) NC_000011.10:15221580:C:A Identity +NM_001265587.2:c.327G>A NP_001252516.1:p.Met109Ile NC_000019.10:17817017:C:T p.(Met109Ile) NC_000019.10:17817017:C:T p.(Met109Ile) NC_000019.10:17817017:C:T Identity +NM_001291860.2:c.1897C>T NP_001278789.1:p.Arg633Trp NC_000001.11:21880759:G:A p.(Arg633Trp) NC_000001.11:21880759:G:A p.(Arg633Trp) NC_000001.11:21880759:G:A Identity +NM_000869.6:c.719G>A NP_000860.3:p.Arg240Gln NC_000011.10:113986530:G:A p.(Arg240Gln) NC_000011.10:113986530:G:A p.(Arg240Gln) NC_000011.10:113986530:G:A Identity +NM_001256613.2:c.851C>T NP_001243542.1:p.Thr284Met NC_000003.12:184105894:C:T p.(Thr284Met) NC_000003.12:184105894:C:T p.(Thr284Met) NC_000003.12:184105894:C:T Identity +NM_001039762.3:c.614G>C NP_001034851.1:p.Gly205Ala NC_000010.11:127175781:C:G p.(Gly205Ala) NC_000010.11:127175781:C:G p.(Gly205Ala) NC_000010.11:127175781:C:G Identity +NM_001129891.3:c.1142C>T NP_001123363.1:p.Ser381Phe NC_000005.10:169882756:G:A p.(Ser381Phe) NC_000005.10:169882756:G:A p.(Ser381Phe) NC_000005.10:169882756:G:A Identity +NM_001271969.2:c.1915C>T NP_001258898.1:p.Arg639Trp NC_000006.12:44253227:C:T p.(Arg639Trp) NC_000006.12:44253227:C:T p.(Arg639Trp) NC_000006.12:44253227:C:T Identity +NM_001271969.2:c.737A>G NP_001258898.1:p.Glu246Gly NC_000006.12:44250378:A:G p.(Glu246Gly) NC_000006.12:44250378:A:G p.(Glu246Gly) NC_000006.12:44250378:A:G Identity +NM_005527.4:c.1313C>T NP_005518.3:p.Pro438Leu NC_000006.12:31810659:G:A p.(Pro438Leu) NC_000006.12:31810659:G:A p.(Pro438Leu) NC_000006.12:31810659:G:A Identity +NM_002155.5:c.1334A>G NP_002146.2:p.Tyr445Cys NC_000001.11:161525991:A:G p.(Tyr445Cys) NC_000001.11:161525991:A:G p.(Tyr445Cys) NC_000001.11:161525991:A:G Identity +NM_001540.5:c.124_125insTC NP_001531.1:p.Trp42fs NC_000007.14:76302836::TC p.(Trp42PhefsTer6) NC_000007.14:76302835:T:TC p.(Trp42PhefsTer6) NC_000007.14:76302836:TG:TC Analogous +NM_001321618.1:c.98G>A NP_001308547.1:p.Arg33Gln NC_000002.12:201022885:C:T p.(Arg33Gln) NC_000002.12:201022885:C:T p.(Arg33Gln) NC_000002.12:201022885:C:T Identity +NM_018060.4:c.1882C>T NP_060530.3:p.Leu628Phe NC_000001.11:220134445:C:T p.(Leu628Phe) NC_000001.11:220134445:C:T p.(Leu628Phe) NC_000001.11:220134445:C:T Identity +NM_033547.4:c.719T>C NP_291025.3:p.Leu240Ser NC_000011.10:77958823:A:G p.(Leu240Ser) NC_000011.10:77958823:A:G p.(Leu240Ser) NC_000011.10:77958823:A:G Identity +NM_001134779.2:c.2811G>C NP_001128251.1:p.Met937Ile NC_000005.10:62601775:G:C p.(Met937Ile) NC_000005.10:62601775:G:C p.(Met937Ile) NC_000005.10:62601775:G:C Identity +NM_018085.5:c.2872G>A NP_060555.2:p.Glu958Lys NC_000001.11:201874869:G:A p.(Glu958Lys) NC_000001.11:201874869:G:A p.(Glu958Lys) NC_000001.11:201874869:G:A Identity +NM_000524.4:c.889C>G NP_000515.2:p.Arg297Gly NC_000005.10:63960830:G:C p.(Arg297Gly) NC_000005.10:63960830:G:C p.(Arg297Gly) NC_000005.10:63960830:G:C Identity +NM_000868.4:c.833C>G NP_000859.2:p.Ala278Gly NC_000023.11:114906870:C:G p.(Ala278Gly) NC_000023.11:114906870:C:G p.(Ala278Gly) NC_000023.11:114906870:C:G Identity +NM_000869.6:c.136A>G NP_000860.3:p.Arg46Gly NC_000011.10:113977838:A:G p.(Arg46Gly) NC_000011.10:113977838:A:G p.(Arg46Gly) NC_000011.10:113977838:A:G Identity +NM_001202413.2:c.443A>T NP_001189342.1:p.Glu148Val NC_000001.11:45568067:A:T p.(Glu148Val) NC_000001.11:45568067:A:T p.(Glu148Val) NC_000001.11:45568067:A:T Identity +NM_001256613.2:c.1289C>T NP_001243542.1:p.Ala430Val NC_000003.12:184106610:C:T p.(Ala430Val) NC_000003.12:184106610:C:T p.(Ala430Val) NC_000003.12:184106610:C:T Identity +NM_014586.2:c.70G>C NP_055401.1:p.Asp24His NC_000021.9:31873743:G:C p.(Asp24His) NC_000021.9:31873743:G:C p.(Asp24His) NC_000021.9:31873743:G:C Identity +NM_001160042.2:c.1318G>T NP_001153514.1:p.Asp440Tyr NC_000001.11:32207758:G:T p.(Asp440Tyr) NC_000001.11:32207758:G:T p.(Asp440Tyr) NC_000001.11:32207758:G:T Identity +NM_015325.3:c.5068C>T NP_056140.1:p.Arg1690Cys NC_000005.10:5464401:C:T p.(Arg1690Cys) NC_000005.10:5464401:C:T p.(Arg1690Cys) NC_000005.10:5464401:C:T Identity +NM_001013619.4:c.826G>A NP_001013641.2:p.Glu276Lys NC_000015.10:78533373:G:A p.(Glu276Lys) NC_000015.10:78533373:G:A p.(Glu276Lys) NC_000015.10:78533373:G:A Identity +NM_001130991.3:c.19A>G NP_001124463.1:p.Arg7Gly NC_000011.10:119056141:T:C p.(Arg7Gly) NC_000011.10:119056141:T:C p.(Arg7Gly) NC_000011.10:119056141:T:C Identity +NM_001206567.2:c.1720A>T NP_001193496.1:p.Ile574Phe NC_000001.11:159051900:A:T p.(Ile574Phe) NC_000001.11:159051900:A:T p.(Ile574Phe) NC_000001.11:159051900:A:T Identity +NM_021057.2:c.134G>A NP_066401.2:p.Gly45Glu NC_000009.12:21202031:C:T p.(Gly45Glu) NC_000009.12:21202031:C:T p.(Gly45Glu) NC_000009.12:21202031:C:T Identity +NM_015325.3:c.4171G>A NP_056140.1:p.Glu1391Lys NC_000005.10:5463504:G:A p.(Glu1391Lys) NC_000005.10:5463504:G:A p.(Glu1391Lys) NC_000005.10:5463504:G:A Identity +NM_001243280.2:c.468C>G NP_001230209.1:p.Asp156Glu NC_000003.12:105533610:C:G p.(Asp156Glu) NC_000003.12:105533610:C:G p.(Asp156Glu) NC_000003.12:105533610:C:G Identity +NM_002172.3:c.116T>G NP_002163.2:p.Met39Arg NC_000009.12:21239819:A:C p.(Met39Arg) NC_000009.12:21239819:A:C p.(Met39Arg) NC_000009.12:21239819:A:C Identity +NM_002169.3:c.346C>A NP_002160.1:p.Leu116Met NC_000009.12:21304910:G:T p.(Leu116Met) NC_000009.12:21304910:G:T p.(Leu116Met) NC_000009.12:21304910:G:T Identity +NM_172140.2:c.96G>C NP_742152.1:p.Lys32Asn NC_000019.10:39296516:G:C p.(Lys32Asn) NC_000019.10:39296516:G:C p.(Lys32Asn) NC_000019.10:39296516:G:C Identity +NM_001145396.2:c.865G>A NP_001138868.1:p.Val289Met NC_000019.10:49462674:G:A p.(Val289Met) NC_000019.10:49462674:G:A p.(Val289Met) NC_000019.10:49462674:G:A Identity +NM_207393.2:c.82G>A NP_997276.1:p.Ala28Thr NC_000019.10:46124153:C:T p.(Ala28Thr) NC_000019.10:46124153:C:T p.(Ala28Thr) NC_000019.10:46124153:C:T Identity +NM_001164586.2:c.2537G>A NP_001158058.1:p.Ser846Asn NC_000001.11:201207429:G:A p.(Ser846Asn) NC_000001.11:201207429:G:A p.(Ser846Asn) NC_000001.11:201207429:G:A Identity +NM_001145396.2:c.692C>T NP_001138868.1:p.Ala231Val NC_000019.10:49461732:C:T p.(Ala231Val) NC_000019.10:49461732:C:T p.(Ala231Val) NC_000019.10:49461732:C:T Identity +NM_001164586.2:c.9371C>A NP_001158058.1:p.Pro3124His NC_000001.11:201216528:C:A p.(Pro3124His) NC_000001.11:201216528:C:A p.(Pro3124His) NC_000001.11:201216528:C:A Identity +NM_001007245.3:c.428G>A NP_001007246.1:p.Arg143His NC_000007.14:112458878:G:A p.(Arg143His) NC_000007.14:112458878:G:A p.(Arg143His) NC_000007.14:112458878:G:A Identity +NM_001177701.3:c.119C>T NP_001171172.1:p.Thr40Ile NC_000022.11:36767360:G:A p.(Thr40Ile) NC_000022.11:36767360:G:A p.(Thr40Ile) NC_000022.11:36767360:G:A Identity +NM_001144920.3:c.310C>T NP_001138392.1:p.Leu104Phe NC_000007.14:139139964:C:T p.(Leu104Phe) NC_000007.14:139139964:C:T p.(Leu104Phe) NC_000007.14:139139964:C:T Identity +NM_173588.4:c.3404G>A NP_775859.4:p.Arg1135Gln NC_000011.10:18707089:C:T p.(Arg1135Gln) NC_000011.10:18707089:C:T p.(Arg1135Gln) NC_000011.10:18707089:C:T Identity +NM_000596.4:c.323C>T NP_000587.1:p.Ser108Phe NC_000007.14:45888974:C:T p.(Ser108Phe) NC_000007.14:45888974:C:T p.(Ser108Phe) NC_000007.14:45888974:C:T Identity +NM_000596.4:c.329C>A NP_000587.1:p.Ala110Asp NC_000007.14:45888980:C:A p.(Ala110Asp) NC_000007.14:45888980:C:A p.(Ala110Asp) NC_000007.14:45888980:C:A Identity +NM_000599.4:c.50C>G NP_000590.1:p.Pro17Arg NC_000002.12:216694725:G:C p.(Pro17Arg) NC_000002.12:216694725:G:C p.(Pro17Arg) NC_000002.12:216694725:G:C Identity +NM_198541.2:c.118C>T NP_940943.1:p.His40Tyr NC_000019.10:46230311:C:T p.(His40Tyr) NC_000019.10:46230311:C:T p.(His40Tyr) NC_000019.10:46230311:C:T Identity +NM_001164586.2:c.2107G>C NP_001158058.1:p.Ala703Pro NC_000001.11:201206999:G:C p.(Ala703Pro) NC_000001.11:201206999:G:C p.(Ala703Pro) NC_000001.11:201206999:G:C Identity +NM_001101372.3:c.118G>A NP_001094842.1:p.Asp40Asn NC_000019.10:51322101:G:A p.(Asp40Asn) NC_000019.10:51322101:G:A p.(Asp40Asn) NC_000019.10:51322101:G:A Identity +NM_001560.3:c.1127C>G NP_001551.1:p.Pro376Arg NC_000023.11:118776446:C:G p.(Pro376Arg) NC_000023.11:118776446:C:G p.(Pro376Arg) NC_000023.11:118776446:C:G Identity +NM_001385060.1:c.613G>A NP_001371989.1:p.Val205Ile NC_000003.12:151453485:C:T p.(Val205Ile) NC_000003.12:151453485:C:T p.(Val205Ile) NC_000003.12:151453485:C:T Identity +NM_021258.4:c.419A>G NP_067081.2:p.His140Arg NC_000001.11:24134322:T:C p.(His140Arg) NC_000001.11:24134322:T:C p.(His140Arg) NC_000001.11:24134322:T:C Identity +NM_000640.3:c.1055T>C NP_000631.1:p.Leu352Ser NC_000023.11:115005257:A:G p.(Leu352Ser) NC_000023.11:115005257:A:G p.(Leu352Ser) NC_000023.11:115005257:A:G Identity +NM_000585.5:c.218T>C NP_000576.1:p.Leu73Ser NC_000004.12:141727961:T:C p.(Leu73Ser) NC_000004.12:141727961:T:C p.(Leu73Ser) NC_000004.12:141727961:T:C Identity +NM_001270364.2:c.1822C>A NP_001257293.1:p.Pro608Thr NC_000003.12:126125623:G:T p.(Pro608Thr) NC_000003.12:126125623:G:T p.(Pro608Thr) NC_000003.12:126125623:G:T Identity +NM_001320304.2:c.119G>A NP_001307233.1:p.Arg40His NC_000002.12:130344634:G:A p.(Arg40His) NC_000002.12:130344634:G:A p.(Arg40His) NC_000002.12:130344634:G:A Identity +NM_001167928.2:c.542G>A NP_001161400.1:p.Cys181Tyr NC_000003.12:190620278:G:A p.(Cys181Tyr) NC_000003.12:190620278:G:A p.(Cys181Tyr) NC_000003.12:190620278:G:A Identity +NM_021798.4:c.1567T>G NP_068570.1:p.Trp523Gly NC_000016.10:27449232:T:G p.(Trp523Gly) NC_000016.10:27449232:T:G p.(Trp523Gly) NC_000016.10:27449232:T:G Identity +NM_021258.4:c.223A>G NP_067081.2:p.Thr75Ala NC_000001.11:24137262:T:C p.(Thr75Ala) NC_000001.11:24137262:T:C p.(Thr75Ala) NC_000001.11:24137262:T:C Identity +NM_001199640.2:c.47A>G NP_001186569.1:p.Lys16Arg NC_000009.12:6241740:A:G p.(Lys16Arg) NC_000009.12:6241740:A:G p.(Lys16Arg) NC_000009.12:6241740:A:G Identity +NM_019099.5:c.404G>A NP_061972.1:p.Arg135Gln NC_000001.11:111727457:C:T p.(Arg135Gln) NC_000001.11:111727457:C:T p.(Arg135Gln) NC_000001.11:111727457:C:T Identity +NM_017553.3:c.3326T>G NP_060023.1:p.Leu1109Arg NC_000015.10:41016163:A:C p.(Leu1109Arg) NC_000015.10:41016163:A:C p.(Leu1109Arg) NC_000015.10:41016163:A:C Identity +NM_001297434.2:c.655G>A NP_001284363.1:p.Val219Met NC_000001.11:37885809:C:T p.(Val219Met) NC_000001.11:37885809:C:T p.(Val219Met) NC_000001.11:37885809:C:T Identity +NM_001278593.2:c.380G>A NP_001265522.1:p.Arg127Gln NC_000014.9:74071903:C:T p.(Arg127Gln) NC_000014.9:74071903:C:T p.(Arg127Gln) NC_000014.9:74071903:C:T Identity +NM_032594.4:c.759G>T NP_115983.3:p.Leu253Phe NC_000014.9:35535010:G:T p.(Leu253Phe) NC_000014.9:35535010:G:T p.(Leu253Phe) NC_000014.9:35535010:G:T Identity +NM_001129891.3:c.649A>G NP_001123363.1:p.Arg217Gly NC_000005.10:169883249:T:C p.(Arg217Gly) NC_000005.10:169883249:T:C p.(Arg217Gly) NC_000005.10:169883249:T:C Identity +NM_001193480.2:c.40A>G NP_001180409.1:p.Ile14Val NC_000006.12:134950013:T:C p.(Ile14Val) NC_000006.12:134950013:T:C p.(Ile14Val) NC_000006.12:134950013:T:C Identity +NM_005538.4:c.671G>A NP_005529.1:p.Arg224Gln NC_000012.12:57449633:G:A p.(Arg224Gln) NC_000012.12:57449633:G:A p.(Arg224Gln) NC_000012.12:57449633:G:A Identity +NM_001330417.2:c.170C>T NP_001317346.2:p.Ala57Val NC_000017.11:61926474:G:A p.(Ala57Val) NC_000017.11:61926474:G:A p.(Ala57Val) NC_000017.11:61926474:G:A Identity +NM_001330417.2:c.3161C>G NP_001317346.2:p.Ser1054Cys NC_000017.11:61869116:G:C p.(Ser1054Cys) NC_000017.11:61869116:G:C p.(Ser1054Cys) NC_000017.11:61869116:G:C Identity +NM_152230.5:c.683C>T NP_689416.1:p.Ala228Val NC_000010.11:58196643:G:A p.(Ala228Val) NC_000010.11:58196643:G:A p.(Ala228Val) NC_000010.11:58196643:G:A Identity +NM_006391.3:c.239C>T NP_006382.1:p.Pro80Leu NC_000011.10:9408557:C:T p.(Pro80Leu) NC_000011.10:9408557:C:T p.(Pro80Leu) NC_000011.10:9408557:C:T Identity +NM_018085.5:c.1687A>G NP_060555.2:p.Ser563Gly NC_000001.11:201866790:A:G p.(Ser563Gly) NC_000001.11:201866790:A:G p.(Ser563Gly) NC_000001.11:201866790:A:G Identity +NM_001039762.3:c.313G>A NP_001034851.1:p.Val105Met NC_000010.11:127176082:C:T p.(Val105Met) NC_000010.11:127176082:C:T p.(Val105Met) NC_000010.11:127176082:C:T Identity +NM_001039762.3:c.418A>G NP_001034851.1:p.Asn140Asp NC_000010.11:127175977:T:C p.(Asn140Asp) NC_000010.11:127175977:T:C p.(Asn140Asp) NC_000010.11:127175977:T:C Identity +NM_001039762.3:c.859G>C NP_001034851.1:p.Glu287Gln NC_000010.11:127175536:C:G p.(Glu287Gln) NC_000010.11:127175536:C:G p.(Glu287Gln) NC_000010.11:127175536:C:G Identity +NM_001129891.3:c.789C>A NP_001123363.1:p.Ser263Arg NC_000005.10:169883109:G:T p.(Ser263Arg) NC_000005.10:169883109:G:T p.(Ser263Arg) NC_000005.10:169883109:G:T Identity +NM_018164.3:c.1906G>A NP_060634.2:p.Val636Ile NC_000012.12:26911216:C:T p.(Val636Ile) NC_000012.12:26911216:C:T p.(Val636Ile) NC_000012.12:26911216:C:T Identity +NM_001145159.3:c.718C>T NP_001138631.1:p.Leu240Phe NC_000008.11:28796618:G:A p.(Leu240Phe) NC_000008.11:28796618:G:A p.(Leu240Phe) NC_000008.11:28796618:G:A Identity +NM_001134779.2:c.433A>G NP_001128251.1:p.Ile145Val NC_000005.10:62451729:A:G p.(Ile145Val) NC_000005.10:62451729:A:G p.(Ile145Val) NC_000005.10:62451729:A:G Identity +NM_001270584.2:c.2332G>A NP_001257513.1:p.Gly778Arg NC_000002.12:236324701:C:T p.(Gly778Arg) NC_000002.12:236324701:C:T p.(Gly778Arg) NC_000002.12:236324701:C:T Identity +NM_001145059.2:c.146T>C NP_001138531.1:p.Leu49Pro NC_000003.12:51874033:A:G p.(Leu49Pro) NC_000003.12:51874033:A:G p.(Leu49Pro) NC_000003.12:51874033:A:G Identity +NM_001197113.2:c.188G>A NP_001184042.1:p.Arg63Gln NC_000003.12:159262579:G:A p.(Arg63Gln) NC_000003.12:159262579:G:A p.(Arg63Gln) NC_000003.12:159262579:G:A Identity +NM_001145304.2:c.3682G>A NP_001138776.1:p.Ala1228Thr NC_000019.10:18257601:C:T p.(Ala1228Thr) NC_000019.10:18257601:C:T p.(Ala1228Thr) NC_000019.10:18257601:C:T Identity +NM_001145304.2:c.499G>A NP_001138776.1:p.Ala167Thr NC_000019.10:18267040:C:T p.(Ala167Thr) NC_000019.10:18267040:C:T p.(Ala167Thr) NC_000019.10:18267040:C:T Identity +NM_001134382.3:c.2159C>T NP_001127854.1:p.Pro720Leu NC_000003.12:12915594:G:A p.(Pro720Leu) NC_000003.12:12915594:G:A p.(Pro720Leu) NC_000003.12:12915594:G:A Identity +NM_001025242.2:c.538A>C NP_001020413.1:p.Lys180Gln NC_000023.11:154018976:T:G p.(Lys180Gln) NC_000023.11:154018976:T:G p.(Lys180Gln) NC_000023.11:154018976:T:G Identity +NM_001142523.2:c.97G>A NP_001135995.1:p.Asp33Asn NC_000012.12:66189395:G:A p.(Asp33Asn) NC_000012.12:66189395:G:A p.(Asp33Asn) NC_000012.12:66189395:G:A Identity +NM_001287501.2:c.1777C>T NP_001274430.1:p.Pro593Ser NC_000007.14:2610045:C:T p.(Pro593Ser) NC_000007.14:2610045:C:T p.(Pro593Ser) NC_000007.14:2610045:C:T Identity +NM_016048.2:c.766G>A NP_057132.2:p.Gly256Arg NC_000005.10:129112869:G:A p.(Gly256Arg) NC_000005.10:129112869:G:A p.(Gly256Arg) NC_000005.10:129112869:G:A Identity +NM_001142523.2:c.1568A>G NP_001135995.1:p.Lys523Arg NC_000012.12:66248130:A:G p.(Lys523Arg) NC_000012.12:66248130:A:G p.(Lys523Arg) NC_000012.12:66248130:A:G Identity +NM_001114182.3:c.61A>G NP_001107654.1:p.Lys21Glu NC_000012.12:43768171:A:G p.(Lys21Glu) NC_000012.12:43768171:A:G p.(Lys21Glu) NC_000012.12:43768171:A:G Identity +NM_001257137.3:c.1180G>A NP_001244066.1:p.Val394Ile NC_000020.11:34445377:G:A p.(Val394Ile) NC_000020.11:34445377:G:A p.(Val394Ile) NC_000020.11:34445377:G:A Identity +NM_018463.4:c.280G>T NP_060933.3:p.Asp94Tyr NC_000012.12:2818150:G:T p.(Asp94Tyr) NC_000012.12:2818150:G:T p.(Asp94Tyr) NC_000012.12:2818150:G:T Identity +NM_000210.4:c.2578A>C NP_000201.2:p.Ser860Arg NC_000002.12:172489556:A:C p.(Ser860Arg) NC_000002.12:172489556:A:C p.(Ser860Arg) NC_000002.12:172489556:A:C Identity +NM_001098627.4:c.674C>T NP_001092097.2:p.Ala225Val NC_000007.14:128947469:C:T p.(Ala225Val) NC_000007.14:128947469:C:T p.(Ala225Val) NC_000007.14:128947469:C:T Identity +NM_001379150.1:c.394G>A NP_001366079.1:p.Ala132Thr NC_000023.11:108735950:C:T p.(Ala132Thr) NC_000023.11:108735950:C:T p.(Ala132Thr) NC_000023.11:108735950:C:T Identity +NM_024336.3:c.388C>G NP_077312.2:p.Arg130Gly NC_000016.10:54285492:G:C p.(Arg130Gly) NC_000016.10:54285492:G:C p.(Arg130Gly) NC_000016.10:54285492:G:C Identity +NM_001130136.1:c.1870C>A NP_001123608.1:p.Pro624Thr NC_000015.10:74134623:C:A p.(Pro624Thr) NC_000015.10:74134623:C:A p.(Pro624Thr) NC_000015.10:74134623:C:A Identity +NM_001303508.2:c.330C>A NP_001290437.1:p.His110Gln NC_000022.11:35082617:C:A p.(His110Gln) NC_000022.11:35082617:C:A p.(His110Gln) NC_000022.11:35082617:C:A Identity +NM_001287499.2:c.1778C>T NP_001274428.1:p.Ala593Val NC_000007.14:2605909:C:T p.(Ala593Val) NC_000007.14:2605909:C:T p.(Ala593Val) NC_000007.14:2605909:C:T Identity +NM_001145304.2:c.1975C>T NP_001138776.1:p.Arg659Trp NC_000019.10:18265564:G:A p.(Arg659Trp) NC_000019.10:18265564:G:A p.(Arg659Trp) NC_000019.10:18265564:G:A Identity +NM_178229.5:c.3607G>A NP_839943.3:p.Ala1203Thr NC_000001.11:156534633:C:T p.(Ala1203Thr) NC_000001.11:156534633:C:T p.(Ala1203Thr) NC_000001.11:156534633:C:T Identity +NM_001085479.3:c.112G>A NP_001078948.1:p.Gly38Arg NC_000003.12:51830447:G:A p.(Gly38Arg) NC_000003.12:51830447:G:A p.(Gly38Arg) NC_000003.12:51830447:G:A Identity +NM_001145304.2:c.349T>C NP_001138776.1:p.Tyr117His NC_000019.10:18267190:A:G p.(Tyr117His) NC_000019.10:18267190:A:G p.(Tyr117His) NC_000019.10:18267190:A:G Identity +NM_001145304.2:c.697C>T NP_001138776.1:p.Arg233Trp NC_000019.10:18266842:G:A p.(Arg233Trp) NC_000019.10:18266842:G:A p.(Arg233Trp) NC_000019.10:18266842:G:A Identity +NM_003870.4:c.4442T>C NP_003861.1:p.Leu1481Pro NC_000015.10:90491525:T:C p.(Leu1481Pro) NC_000015.10:90491525:T:C p.(Leu1481Pro) NC_000015.10:90491525:T:C Identity +NM_001425071.1:c.401G>A NP_001412000.1:p.Arg134His NC_000017.11:3761434:C:T p.(Arg134His) NC_000017.11:3761434:C:T p.(Arg134His) NC_000017.11:3761434:C:T Identity +NM_000889.3:c.103C>T NP_000880.1:p.Arg35Trp NC_000012.12:53200340:G:A p.(Arg35Trp) NC_000012.12:53200340:G:A p.(Arg35Trp) NC_000012.12:53200340:G:A Identity +NM_001166434.3:c.880G>A NP_001159906.1:p.Gly294Ser NC_000003.12:52784375:G:A p.(Gly294Ser) NC_000003.12:52784375:G:A p.(Gly294Ser) NC_000003.12:52784375:G:A Identity +NM_001414174.1:c.4216G>C NP_001401103.1:p.Val1406Leu NC_000012.12:26596917:C:G p.(Val1406Leu) NC_000012.12:26596917:C:G p.(Val1406Leu) NC_000012.12:26596917:C:G Identity +NM_002224.4:c.6242A>C NP_002215.2:p.Glu2081Ala NC_000006.12:33687541:A:C p.(Glu2081Ala) NC_000006.12:33687541:A:C p.(Glu2081Ala) NC_000006.12:33687541:A:C Identity +NM_001130445.3:c.2442G>C NP_001123917.1:p.Gln814His NC_000002.12:181916081:G:C p.(Gln814His) NC_000002.12:181916081:G:C p.(Gln814His) NC_000002.12:181916081:G:C Identity +NM_019112.4:c.5333G>A NP_061985.2:p.Arg1778His NC_000019.10:1058872:G:A p.(Arg1778His) NC_000019.10:1058872:G:A p.(Arg1778His) NC_000019.10:1058872:G:A Identity +NM_001034841.4:c.253G>C NP_001030013.1:p.Ala85Pro NC_000016.10:19114713:G:C p.(Ala85Pro) NC_000016.10:19114713:G:C p.(Ala85Pro) NC_000016.10:19114713:G:C Identity +NM_001111125.3:c.3353G>C NP_001104595.1:p.Gly1118Ala NC_000023.11:53236419:C:G p.(Gly1118Ala) NC_000023.11:53236419:C:G p.(Gly1118Ala) NC_000023.11:53236419:C:G Identity +NM_001098579.3:c.2348G>A NP_001092049.2:p.Gly783Asp NC_000011.10:10580577:C:T p.(Gly783Asp) NC_000011.10:10580577:C:T p.(Gly783Asp) NC_000011.10:10580577:C:T Identity +NM_001098579.3:c.952G>T NP_001092049.2:p.Val318Leu NC_000011.10:10626357:C:A p.(Val318Leu) NC_000011.10:10626357:C:A p.(Val318Leu) NC_000011.10:10626357:C:A Identity +NM_001570.4:c.1565C>T NP_001561.3:p.Ser522Phe NC_000003.12:10238838:C:T p.(Ser522Phe) NC_000003.12:10238838:C:T p.(Ser522Phe) NC_000003.12:10238838:C:T Identity +NM_001142523.2:c.1553G>A NP_001135995.1:p.Ser518Asn NC_000012.12:66248115:G:A p.(Ser518Asn) NC_000012.12:66248115:G:A p.(Ser518Asn) NC_000012.12:66248115:G:A Identity +NM_001142523.2:c.1554C>G NP_001135995.1:p.Ser518Arg NC_000012.12:66248116:C:G p.(Ser518Arg) NC_000012.12:66248116:C:G p.(Ser518Arg) NC_000012.12:66248116:C:G Identity +NM_001270975.2:c.781A>G NP_001257904.1:p.Met261Val NC_000016.10:71923308:A:G p.(Met261Val) NC_000016.10:71923308:A:G p.(Met261Val) NC_000016.10:71923308:A:G Identity +NM_000885.6:c.2270A>G NP_000876.3:p.Asp757Gly NC_000002.12:181525221:A:G p.(Asp757Gly) NC_000002.12:181525221:A:G p.(Asp757Gly) NC_000002.12:181525221:A:G Identity +NM_001199206.4:c.548C>A NP_001186135.1:p.Ala183Asp NC_000011.10:94307486:C:A p.(Ala183Asp) NC_000011.10:94307486:C:A p.(Ala183Asp) NC_000011.10:94307486:C:A Identity +NM_000214.3:c.1739T>C NP_000205.1:p.Val580Ala NC_000020.11:10647084:A:G p.(Val580Ala) NC_000020.11:10647084:A:G p.(Val580Ala) NC_000020.11:10647084:A:G Identity +NM_002226.5:c.2743G>A NP_002217.3:p.Gly915Ser NC_000014.9:105145939:C:T p.(Gly915Ser) NC_000014.9:105145939:C:T p.(Gly915Ser) NC_000014.9:105145939:C:T Identity +NM_001105521.4:c.1724G>A NP_001098991.1:p.Arg575Gln NC_000010.11:132145554:G:A p.(Arg575Gln) NC_000010.11:132145554:G:A p.(Arg575Gln) NC_000010.11:132145554:G:A Identity +NM_001105521.4:c.688G>A NP_001098991.1:p.Gly230Arg NC_000010.11:132133365:G:A p.(Gly230Arg) NC_000010.11:132133365:G:A p.(Gly230Arg) NC_000010.11:132133365:G:A Identity +NM_001267040.1:c.1129G>T NP_001253969.1:p.Ala377Ser NC_000006.12:15496869:G:T p.(Ala377Ser) NC_000006.12:15496869:G:T p.(Ala377Ser) NC_000006.12:15496869:G:T Identity +NM_001135047.2:c.194A>T NP_001128519.1:p.Lys65Ile NC_000014.9:75438113:A:T p.(Lys65Ile) NC_000014.9:75438113:A:T p.(Lys65Ile) NC_000014.9:75438113:A:T Identity +NM_000697.3:c.1381G>A NP_000688.2:p.Ala461Thr NC_000017.11:7005989:G:A p.(Ala461Thr) NC_000017.11:7005989:G:A p.(Ala461Thr) NC_000017.11:7005989:G:A Identity +NM_020655.4:c.1842G>T NP_065706.2:p.Glu614Asp NC_000016.10:87690201:G:T p.(Glu614Asp) NC_000016.10:87690201:G:T p.(Glu614Asp) NC_000016.10:87690201:G:T Identity +NM_198471.3:c.199C>T NP_940873.2:p.Pro67Ser NC_000019.10:8335627:G:A p.(Pro67Ser) NC_000019.10:8335627:G:A p.(Pro67Ser) NC_000019.10:8335627:G:A Identity +NM_000887.5:c.103G>A NP_000878.2:p.Ala35Thr NC_000016.10:31355957:G:A p.(Ala35Thr) NC_000016.10:31355957:G:A p.(Ala35Thr) NC_000016.10:31355957:G:A Identity +NM_000888.5:c.1859G>C NP_000879.2:p.Cys620Ser NC_000002.12:160126402:C:G p.(Cys620Ser) NC_000002.12:160126402:C:G p.(Cys620Ser) NC_000002.12:160126402:C:G Identity +NM_001140.5:c.862G>A NP_001131.3:p.Val288Ile NC_000017.11:4637203:C:T p.(Val288Ile) NC_000017.11:4637203:C:T p.(Val288Ile) NC_000017.11:4637203:C:T Identity +NM_005886.3:c.1138G>A NP_005877.2:p.Glu380Lys NC_000016.10:57753479:G:A p.(Glu380Lys) NC_000016.10:57753479:G:A p.(Glu380Lys) NC_000016.10:57753479:G:A Identity +NM_001165960.1:c.1888C>T NP_001159432.1:p.Arg630Cys NC_000017.11:8109243:G:A p.(Arg630Cys) NC_000017.11:8109243:G:A p.(Arg630Cys) NC_000017.11:8109243:G:A Identity +NM_004732.4:c.1157C>G NP_004723.2:p.Pro386Arg NC_000017.11:7923159:G:C p.(Pro386Arg) NC_000017.11:7923159:G:C p.(Pro386Arg) NC_000017.11:7923159:G:C Identity +NM_001039574.3:c.1721T>C NP_001034663.1:p.Leu574Pro NC_000001.11:110226079:T:C p.(Leu574Pro) NC_000001.11:110226079:T:C p.(Leu574Pro) NC_000001.11:110226079:T:C Identity +NM_001378969.1:c.238A>C NP_001365898.1:p.Lys80Gln NC_000001.11:111982488:T:G p.(Lys80Gln) NC_000001.11:111982488:T:G p.(Lys80Gln) NC_000001.11:111982488:T:G Identity +NM_133329.6:c.445C>T NP_579875.1:p.Pro149Ser NC_000002.12:42493056:G:A p.(Pro149Ser) NC_000002.12:42493056:G:A p.(Pro149Ser) NC_000002.12:42493056:G:A Identity +NM_001303040.2:c.1234C>T NP_001289969.1:p.Pro412Ser NC_000001.11:145900953:G:A p.(Pro412Ser) NC_000001.11:145900953:G:A p.(Pro412Ser) NC_000001.11:145900953:G:A Identity +NM_002204.4:c.1559C>G NP_002195.1:p.Ala520Gly NC_000017.11:50075619:C:G p.(Ala520Gly) NC_000017.11:50075619:C:G p.(Ala520Gly) NC_000017.11:50075619:C:G Identity +NM_033087.4:c.887A>G NP_149078.1:p.Tyr296Cys NC_000009.12:99218297:T:C p.(Tyr296Cys) NC_000009.12:99218297:T:C p.(Tyr296Cys) NC_000009.12:99218297:T:C Identity +NM_000210.4:c.313C>T NP_000201.2:p.Pro105Ser NC_000002.12:172467485:C:T p.(Pro105Ser) NC_000002.12:172467485:C:T p.(Pro105Ser) NC_000002.12:172467485:C:T Identity +NM_004700.4:c.1520C>G NP_004691.2:p.Pro507Arg NC_000001.11:40833019:C:G p.(Pro507Arg) NC_000001.11:40833019:C:G p.(Pro507Arg) NC_000001.11:40833019:C:G Identity +NM_173605.2:c.25T>G NP_775876.1:p.Leu9Val NC_000013.11:50015517:T:G p.(Leu9Val) NC_000013.11:50015517:T:G p.(Leu9Val) NC_000013.11:50015517:T:G Identity +NM_001350622.2:c.132C>A NP_001337551.1:p.Asp44Glu NC_000006.12:62177271:G:T p.(Asp44Glu) NC_000006.12:62177271:G:T p.(Asp44Glu) NC_000006.12:62177271:G:T Identity +NM_000212.3:c.1948G>A NP_000203.2:p.Ala650Thr NC_000017.11:47300511:G:A p.(Ala650Thr) NC_000017.11:47300511:G:A p.(Ala650Thr) NC_000017.11:47300511:G:A Identity +NM_001392019.1:c.2041C>G NP_001378948.1:p.Pro681Ala NC_000003.12:52806125:C:G p.(Pro681Ala) NC_000003.12:52806125:C:G p.(Pro681Ala) NC_000003.12:52806125:C:G Identity +NM_198510.3:c.2511G>T NP_940912.1:p.Met837Ile NC_000023.11:54757562:C:A p.(Met837Ile) NC_000023.11:54757562:C:A p.(Met837Ile) NC_000023.11:54757562:C:A Identity +NM_001414174.1:c.2423C>A NP_001401103.1:p.Thr808Lys NC_000012.12:26656314:G:T p.(Thr808Lys) NC_000012.12:26656314:G:T p.(Thr808Lys) NC_000012.12:26656314:G:T Identity +NM_001286274.2:c.698A>G NP_001273203.1:p.Asn233Ser NC_000006.12:57053277:A:G p.(Asn233Ser) NC_000006.12:57053277:A:G p.(Asn233Ser) NC_000006.12:57053277:A:G Identity +NM_001029864.2:c.308G>T NP_001025035.1:p.Gly103Val NC_000020.11:38241822:C:A p.(Gly103Val) NC_000020.11:38241822:C:A p.(Gly103Val) NC_000020.11:38241822:C:A Identity +NM_001388308.1:c.854T>A NP_001375237.1:p.Met285Lys NC_000009.12:114096091:A:T p.(Met285Lys) NC_000009.12:114096091:A:T p.(Met285Lys) NC_000009.12:114096091:A:T Identity +NM_001257967.3:c.3107G>T NP_001244896.2:p.Gly1036Val NC_000007.14:31652800:G:T p.(Gly1036Val) NC_000007.14:31652800:G:T p.(Gly1036Val) NC_000007.14:31652800:G:T Identity +NM_001257967.3:c.712G>A NP_001244896.2:p.Val238Met NC_000007.14:31577975:G:A p.(Val238Met) NC_000007.14:31577975:G:A p.(Val238Met) NC_000007.14:31577975:G:A Identity +NM_001130445.3:c.3527A>T NP_001123917.1:p.Glu1176Val NC_000002.12:181922263:A:T p.(Glu1176Val) NC_000002.12:181922263:A:T p.(Glu1176Val) NC_000002.12:181922263:A:T Identity +NM_015656.2:c.4306G>C NP_056471.1:p.Ala1436Pro NC_000014.9:104177093:G:C p.(Ala1436Pro) NC_000014.9:104177093:G:C p.(Ala1436Pro) NC_000014.9:104177093:G:C Identity +NM_018012.4:c.650C>T NP_060482.2:p.Ser217Leu NC_000001.11:245367017:C:T p.(Ser217Leu) NC_000001.11:245367017:C:T p.(Ser217Leu) NC_000001.11:245367017:C:T Identity +NM_012310.5:c.3566A>T NP_036442.3:p.Asp1189Val NC_000023.11:70420131:A:T p.(Asp1189Val) NC_000023.11:70420131:A:T p.(Asp1189Val) NC_000023.11:70420131:A:T Identity +NM_001286349.2:c.524A>G NP_001273278.1:p.Asn175Ser NC_000001.11:158088061:A:G p.(Asn175Ser) NC_000001.11:158088061:A:G p.(Asn175Ser) NC_000001.11:158088061:A:G Identity +NM_032551.5:c.423G>T NP_115940.2:p.Trp141Cys NC_000019.10:919542:G:T p.(Trp141Cys) NC_000019.10:919542:G:T p.(Trp141Cys) NC_000019.10:919542:G:T Identity +NM_001105193.2:c.1282G>A NP_001098663.1:p.Asp428Asn NC_000002.12:130763353:G:A p.(Asp428Asn) NC_000002.12:130763353:G:A p.(Asp428Asn) NC_000002.12:130763353:G:A Identity +NM_001303051.2:c.1489A>G NP_001289980.1:p.Met497Val NC_000001.11:202894201:T:C p.(Met497Val) NC_000001.11:202894201:T:C p.(Met497Val) NC_000001.11:202894201:T:C Identity +NM_022480.4:c.508C>A NP_071925.2:p.Arg170Ser NC_000015.10:85769302:G:T p.(Arg170Ser) NC_000015.10:85769302:G:T p.(Arg170Ser) NC_000015.10:85769302:G:T Identity +NM_001199206.4:c.503A>G NP_001186135.1:p.Lys168Arg NC_000011.10:94307441:A:G p.(Lys168Arg) NC_000011.10:94307441:A:G p.(Lys168Arg) NC_000011.10:94307441:A:G Identity +NM_001267040.1:c.1723A>C NP_001253969.1:p.Lys575Gln NC_000006.12:15501199:A:C p.(Lys575Gln) NC_000006.12:15501199:A:C p.(Lys575Gln) NC_000006.12:15501199:A:C Identity +NM_198582.4:c.1265G>T NP_940984.3:p.Gly422Val NC_000002.12:238147947:G:T p.(Gly422Val) NC_000002.12:238147947:G:T p.(Gly422Val) NC_000002.12:238147947:G:T Identity +NM_006063.3:c.296A>G NP_006054.2:p.Asn99Ser NC_000002.12:169510073:A:G p.(Asn99Ser) NC_000002.12:169510073:A:G p.(Asn99Ser) NC_000002.12:169510073:A:G Identity +NM_001277081.2:c.662T>C NP_001264010.1:p.Ile221Thr NC_000019.10:50825901:A:G p.(Ile221Thr) NC_000019.10:50825901:A:G p.(Ile221Thr) NC_000019.10:50825901:A:G Identity +NM_198508.4:c.514C>A NP_940910.1:p.Leu172Met NC_000007.14:139483128:G:T p.(Leu172Met) NC_000007.14:139483128:G:T p.(Leu172Met) NC_000007.14:139483128:G:T Identity +NM_014727.3:c.3221A>G NP_055542.1:p.Lys1074Arg NC_000019.10:35723893:A:G p.(Lys1074Arg) NC_000019.10:35723893:A:G p.(Lys1074Arg) NC_000019.10:35723893:A:G Identity +NM_001410908.1:c.4241C>G NP_001397837.1:p.Pro1414Arg NC_000007.14:105112122:C:G p.(Pro1414Arg) NC_000007.14:105112122:C:G p.(Pro1414Arg) NC_000007.14:105112122:C:G Identity +NM_001282948.2:c.726A>C NP_001269877.1:p.Glu242Asp NC_000010.11:63214894:T:G p.(Glu242Asp) NC_000010.11:63214894:T:G p.(Glu242Asp) NC_000010.11:63214894:T:G Identity +NM_001282948.2:c.5511A>C NP_001269877.1:p.Lys1837Asn NC_000010.11:63192956:T:G p.(Lys1837Asn) NC_000010.11:63192956:T:G p.(Lys1837Asn) NC_000010.11:63192956:T:G Identity +NM_001081461.2:c.1151G>A NP_001074930.1:p.Gly384Glu NC_000017.11:76718789:C:T p.(Gly384Glu) NC_000017.11:76718789:C:T p.(Gly384Glu) NC_000017.11:76718789:C:T Identity +NM_001114633.2:c.1114G>A NP_001108105.1:p.Gly372Ser NC_000015.10:41844944:G:A p.(Gly372Ser) NC_000015.10:41844944:G:A p.(Gly372Ser) NC_000015.10:41844944:G:A Identity +NM_001271604.4:c.329C>T NP_001258533.1:p.Thr110Ile NC_000016.10:87603474:C:T p.(Thr110Ile) NC_000016.10:87603474:C:T p.(Thr110Ile) NC_000016.10:87603474:C:T Identity +NM_144570.3:c.472C>T NP_653171.1:p.Pro158Ser NC_000016.10:1698896:C:T p.(Pro158Ser) NC_000016.10:1698896:C:T p.(Pro158Ser) NC_000016.10:1698896:C:T Identity +NM_002228.4:c.394T>C NP_002219.1:p.Ser132Pro NC_000001.11:58782676:A:G p.(Ser132Pro) NC_000001.11:58782676:A:G p.(Ser132Pro) NC_000001.11:58782676:A:G Identity +NM_002267.4:c.1006T>A NP_002258.2:p.Ser336Thr NC_000013.11:49709597:A:T p.(Ser336Thr) NC_000013.11:49709597:A:T p.(Ser336Thr) NC_000013.11:49709597:A:T Identity +NM_080283.4:c.2779G>A NP_525022.2:p.Asp927Asn NC_000017.11:69017777:C:T p.(Asp927Asn) NC_000017.11:69017777:C:T p.(Asp927Asn) NC_000017.11:69017777:C:T Identity +NM_005555.4:c.1208C>T NP_005546.2:p.Ala403Val NC_000012.12:52447993:G:A p.(Ala403Val) NC_000012.12:52447993:G:A p.(Ala403Val) NC_000012.12:52447993:G:A Identity +NM_002281.4:c.1424A>C NP_002272.2:p.Asn475Thr NC_000012.12:52286348:T:G p.(Asn475Thr) NC_000012.12:52286348:T:G p.(Asn475Thr) NC_000012.12:52286348:T:G Identity +NM_001370136.1:c.1699C>G NP_001357065.1:p.Pro567Ala NC_000010.11:74976035:C:G p.(Pro567Ala) NC_000010.11:74976035:C:G p.(Pro567Ala) NC_000010.11:74976035:C:G Identity +NM_005886.3:c.977T>A NP_005877.2:p.Leu326Gln NC_000016.10:57753197:T:A p.(Leu326Gln) NC_000016.10:57753197:T:A p.(Leu326Gln) NC_000016.10:57753197:T:A Identity +NM_198695.2:c.736C>G NP_941968.2:p.Leu246Val NC_000021.9:44612835:C:G p.(Leu246Val) NC_000021.9:44612835:C:G p.(Leu246Val) NC_000021.9:44612835:C:G Identity +NM_181602.2:c.19G>A NP_853633.1:p.Gly7Arg NC_000021.9:30613885:C:T p.(Gly7Arg) NC_000021.9:30613885:C:T p.(Gly7Arg) NC_000021.9:30613885:C:T Identity +NM_001386109.1:c.1073G>A NP_001373038.1:p.Arg358His NC_000001.11:103575511:G:A p.(Arg358His) NC_000001.11:103575511:G:A p.(Arg358His) NC_000001.11:103575511:G:A Identity +NM_015483.3:c.1739G>A NP_056298.2:p.Arg580Gln NC_000007.14:32869477:C:T p.(Arg580Gln) NC_000007.14:32869477:C:T p.(Arg580Gln) NC_000007.14:32869477:C:T Identity +NM_032138.7:c.1786A>C NP_115514.2:p.Ile596Leu NC_000013.11:41192471:T:G p.(Ile596Leu) NC_000013.11:41192471:T:G p.(Ile596Leu) NC_000013.11:41192471:T:G Identity +NM_004770.3:c.867C>A NP_004761.2:p.Ser289Arg NC_000008.11:72936221:C:A p.(Ser289Arg) NC_000008.11:72936221:C:A p.(Ser289Arg) NC_000008.11:72936221:C:A Identity +NM_005559.4:c.2854A>G NP_005550.2:p.Asn952Asp NC_000018.10:7016625:T:C p.(Asn952Asp) NC_000018.10:7016625:T:C p.(Asn952Asp) NC_000018.10:7016625:T:C Identity +NM_005559.4:c.8080C>A NP_005550.2:p.Pro2694Thr NC_000018.10:6956649:G:T p.(Pro2694Thr) NC_000018.10:6956649:G:T p.(Pro2694Thr) NC_000018.10:6956649:G:T Identity +NM_001127717.4:c.1375A>G NP_001121189.2:p.Ile459Val NC_000018.10:23775892:A:G p.(Ile459Val) NC_000018.10:23775892:A:G p.(Ile459Val) NC_000018.10:23775892:A:G Identity +NM_001127717.4:c.1634A>C NP_001121189.2:p.Gln545Pro NC_000018.10:23810395:A:C p.(Gln545Pro) NC_000018.10:23810395:A:C p.(Gln545Pro) NC_000018.10:23810395:A:C Identity +NM_002291.3:c.1154C>T NP_002282.2:p.Pro385Leu NC_000007.14:107975723:G:A p.(Pro385Leu) NC_000007.14:107975723:G:A p.(Pro385Leu) NC_000007.14:107975723:G:A Identity +NM_001318046.2:c.3670G>A NP_001304975.1:p.Val1224Met NC_000007.14:108055716:C:T p.(Val1224Met) NC_000007.14:108055716:C:T p.(Val1224Met) NC_000007.14:108055716:C:T Identity +NM_001039574.3:c.1798G>A NP_001034663.1:p.Ala600Thr NC_000001.11:110226156:G:A p.(Ala600Thr) NC_000001.11:110226156:G:A p.(Ala600Thr) NC_000001.11:110226156:G:A Identity +NM_006059.4:c.3647C>T NP_006050.3:p.Ala1216Val NC_000009.12:131077203:C:T p.(Ala1216Val) NC_000009.12:131077203:C:T p.(Ala1216Val) NC_000009.12:131077203:C:T Identity +NM_005561.4:c.1195G>A NP_005552.3:p.Val399Ile NC_000013.11:113322361:G:A p.(Val399Ile) NC_000013.11:113322361:G:A p.(Val399Ile) NC_000013.11:113322361:G:A Identity +NM_018697.4:c.386C>G NP_061167.1:p.Ser129Cys NC_000007.14:55398485:C:G p.(Ser129Cys) NC_000007.14:55398485:C:G p.(Ser129Cys) NC_000007.14:55398485:C:G Identity +NM_001170331.2:c.373G>T NP_001163802.1:p.Ala125Ser NC_000023.11:37572242:G:T p.(Ala125Ser) NC_000023.11:37572242:G:T p.(Ala125Ser) NC_000023.11:37572242:G:T Identity +NM_001367713.1:c.196C>T NP_001354642.1:p.Arg66Cys NC_000005.10:154793665:C:T p.(Arg66Cys) NC_000005.10:154793665:C:T p.(Arg66Cys) NC_000005.10:154793665:C:T Identity +NM_001317964.2:c.31G>A NP_001304893.1:p.Asp11Asn NC_000005.10:146177640:C:T p.(Asp11Asn) NC_000005.10:146177640:C:T p.(Asp11Asn) NC_000005.10:146177640:C:T Identity +NM_001286756.2:c.2224G>T NP_001273685.1:p.Val742Leu NC_000004.12:25418175:G:T p.(Val742Leu) NC_000004.12:25418175:G:T p.(Val742Leu) NC_000004.12:25418175:G:T Identity +NM_002245.4:c.730C>T NP_002236.1:p.Leu244Phe NC_000001.11:233666968:C:T p.(Leu244Phe) NC_000001.11:233666968:C:T p.(Leu244Phe) NC_000001.11:233666968:C:T Identity +NM_001031836.3:c.1865A>T NP_001027006.2:p.Lys622Ile NC_000008.11:36845872:A:T p.(Lys622Ile) NC_000008.11:36845872:A:T p.(Lys622Ile) NC_000008.11:36845872:A:T Identity +NM_178348.2:c.325T>G NP_848125.1:p.Cys109Gly NC_000001.11:152827796:T:G p.(Cys109Gly) NC_000001.11:152827796:T:G p.(Cys109Gly) NC_000001.11:152827796:T:G Identity +NM_014357.5:c.209G>T NP_055172.1:p.Gly70Val NC_000001.11:152687051:G:T p.(Gly70Val) NC_000001.11:152687051:G:T p.(Gly70Val) NC_000001.11:152687051:G:T Identity +NM_178429.5:c.247C>T NP_848516.1:p.Arg83Trp NC_000001.11:152676261:C:T p.(Arg83Trp) NC_000001.11:152676261:C:T p.(Arg83Trp) NC_000001.11:152676261:C:T Identity +NM_001393661.1:c.182G>A NP_001380590.1:p.Arg61Gln NC_000009.12:135664246:G:A p.(Arg61Gln) NC_000009.12:135664246:G:A p.(Arg61Gln) NC_000009.12:135664246:G:A Identity +NM_001282723.2:c.220C>T NP_001269652.1:p.Arg74Cys NC_000002.12:20790332:G:A p.(Arg74Cys) NC_000002.12:20790332:G:A p.(Arg74Cys) NC_000002.12:20790332:G:A Identity +NM_001243689.2:c.593C>G NP_001230618.1:p.Ala198Gly NC_000012.12:51055914:C:G p.(Ala198Gly) NC_000012.12:51055914:C:G p.(Ala198Gly) NC_000012.12:51055914:C:G Identity +NM_001330163.2:c.478A>T NP_001317092.1:p.Ile160Phe NC_000017.11:27645346:A:T p.(Ile160Phe) NC_000017.11:27645346:A:T p.(Ile160Phe) NC_000017.11:27645346:A:T Identity +NM_001308276.2:c.728T>C NP_001295205.1:p.Ile243Thr NC_000010.11:93797000:T:C p.(Ile243Thr) NC_000010.11:93797000:T:C p.(Ile243Thr) NC_000010.11:93797000:T:C Identity +NM_001017403.2:c.2635A>T NP_001017403.1:p.Ile879Phe NC_000001.11:202318937:A:T p.(Ile879Phe) NC_000001.11:202318937:A:T p.(Ile879Phe) NC_000001.11:202318937:A:T Identity +NM_001167880.2:c.13G>A NP_001161352.1:p.Gly5Ser NC_000010.11:124461874:G:A p.(Gly5Ser) NC_000010.11:124461874:G:A p.(Gly5Ser) NC_000010.11:124461874:G:A Identity +NM_033343.4:c.1154T>C NP_203129.1:p.Met385Thr NC_000001.11:180274559:T:C p.(Met385Thr) NC_000001.11:180274559:T:C p.(Met385Thr) NC_000001.11:180274559:T:C Identity +NM_001039667.3:c.211C>T NP_001034756.1:p.Arg71Trp NC_000019.10:8364531:C:T p.(Arg71Trp) NC_000019.10:8364531:C:T p.(Arg71Trp) NC_000019.10:8364531:C:T Identity +NM_001242333.2:c.922C>A NP_001229262.1:p.Pro308Thr NC_000009.12:122213704:G:T p.(Pro308Thr) NC_000009.12:122213704:G:T p.(Pro308Thr) NC_000009.12:122213704:G:T Identity +NM_001130917.3:c.437A>G NP_001124389.2:p.Gln146Arg NC_000019.10:54574814:A:G p.(Gln146Arg) NC_000019.10:54574814:A:G p.(Gln146Arg) NC_000019.10:54574814:A:G Identity +NM_001136205.2:c.433G>A NP_001129677.1:p.Val145Met NC_000018.10:26459801:C:T p.(Val145Met) NC_000018.10:26459801:C:T p.(Val145Met) NC_000018.10:26459801:C:T Identity +NM_001256405.2:c.1121C>T NP_001243334.1:p.Thr374Ile NC_000011.10:67250467:C:T p.(Thr374Ile) NC_000011.10:67250467:C:T p.(Thr374Ile) NC_000011.10:67250467:C:T Identity +NM_001005366.2:c.2359C>T NP_001005366.1:p.Leu787Phe NC_000012.12:121443029:G:A p.(Leu787Phe) NC_000012.12:121443029:G:A p.(Leu787Phe) NC_000012.12:121443029:G:A Identity +NM_001080424.2:c.3044G>A NP_001073893.1:p.Arg1015His NC_000017.11:7849331:G:A p.(Arg1015His) NC_000017.11:7849331:G:A p.(Arg1015His) NC_000017.11:7849331:G:A Identity +NM_030647.2:c.2437A>C NP_085150.1:p.Thr813Pro NC_000007.14:140094075:T:G p.(Thr813Pro) NC_000007.14:140094075:T:G p.(Thr813Pro) NC_000007.14:140094075:T:G Identity +NM_001168374.2:c.1406T>C NP_001161846.1:p.Ile469Thr NC_000006.12:24578181:A:G p.(Ile469Thr) NC_000006.12:24578181:A:G p.(Ile469Thr) NC_000006.12:24578181:A:G Identity +NM_024874.5:c.1504C>G NP_079150.3:p.Pro502Ala NC_000001.11:35456164:G:C p.(Pro502Ala) NC_000001.11:35456164:G:C p.(Pro502Ala) NC_000001.11:35456164:G:C Identity +NM_001244189.2:c.1453A>G NP_001231118.1:p.Met485Val NC_000014.9:58456741:A:G p.(Met485Val) NC_000014.9:58456741:A:G p.(Met485Val) NC_000014.9:58456741:A:G Identity +NM_001244189.2:c.4523A>T NP_001231118.1:p.His1508Leu NC_000014.9:58512561:A:T p.(His1508Leu) NC_000014.9:58512561:A:T p.(His1508Leu) NC_000014.9:58512561:A:T Identity +NM_001145678.3:c.163G>A NP_001139150.1:p.Glu55Lys NC_000005.10:94524066:C:T p.(Glu55Lys) NC_000005.10:94524066:C:T p.(Glu55Lys) NC_000005.10:94524066:C:T Identity +NM_001410975.1:c.4000A>C NP_001397904.1:p.Ser1334Arg NC_000002.12:201715672:T:G p.(Ser1334Arg) NC_000002.12:201715672:T:G p.(Ser1334Arg) NC_000002.12:201715672:T:G Identity +NM_012194.3:c.1015T>C NP_036326.3:p.Ser339Pro NC_000011.10:33542577:T:C p.(Ser339Pro) NC_000011.10:33542577:T:C p.(Ser339Pro) NC_000011.10:33542577:T:C Identity +NM_012194.3:c.1265A>G NP_036326.3:p.Gln422Arg NC_000011.10:33542827:A:G p.(Gln422Arg) NC_000011.10:33542827:A:G p.(Gln422Arg) NC_000011.10:33542827:A:G Identity +NM_020931.4:c.140A>G NP_065982.1:p.Asp47Gly NC_000006.12:57050807:A:G p.(Asp47Gly) NC_000006.12:57050807:A:G p.(Asp47Gly) NC_000006.12:57050807:A:G Identity +NM_001411098.1:c.871A>G NP_001398027.1:p.Thr291Ala NC_000019.10:40718005:A:G p.(Thr291Ala) NC_000019.10:40718005:A:G p.(Thr291Ala) NC_000019.10:40718005:A:G Identity +NM_017621.4:c.614C>T NP_060091.1:p.Ser205Leu NC_000007.14:102457688:G:A p.(Ser205Leu) NC_000007.14:102457688:G:A p.(Ser205Leu) NC_000007.14:102457688:G:A Identity +NM_001130445.3:c.2878G>A NP_001123917.1:p.Glu960Lys NC_000002.12:181918766:G:A p.(Glu960Lys) NC_000002.12:181918766:G:A p.(Glu960Lys) NC_000002.12:181918766:G:A Identity +NM_001001132.2:c.1040C>T NP_001001132.1:p.Pro347Leu NC_000021.9:33767825:C:T p.(Pro347Leu) NC_000021.9:33767825:C:T p.(Pro347Leu) NC_000021.9:33767825:C:T Identity +NM_001301010.3:c.242C>T NP_001287939.2:p.Pro81Leu NC_000011.10:107556890:G:A p.(Pro81Leu) NC_000011.10:107556890:G:A p.(Pro81Leu) NC_000011.10:107556890:G:A Identity +NM_001321449.1:c.398G>T NP_001308378.1:p.Cys133Phe NC_000019.10:50159246:C:A p.(Cys133Phe) NC_000019.10:50159246:C:A p.(Cys133Phe) NC_000019.10:50159246:C:A Identity +NM_001077445.3:c.301G>T NP_001070913.1:p.Val101Leu NC_000023.11:47024739:G:T p.(Val101Leu) NC_000023.11:47024739:G:T p.(Val101Leu) NC_000023.11:47024739:G:T Identity +NM_002226.5:c.2198C>T NP_002217.3:p.Thr733Ile NC_000014.9:105148165:G:A p.(Thr733Ile) NC_000014.9:105148165:G:A p.(Thr733Ile) NC_000014.9:105148165:G:A Identity +NM_002226.5:c.2245G>A NP_002217.3:p.Val749Ile NC_000014.9:105148118:C:T p.(Val749Ile) NC_000014.9:105148118:C:T p.(Val749Ile) NC_000014.9:105148118:C:T Identity +NM_001205329.2:c.308A>C NP_001192258.1:p.Lys103Thr NC_000011.10:134144842:A:C p.(Lys103Thr) NC_000011.10:134144842:A:C p.(Lys103Thr) NC_000011.10:134144842:A:C Identity +NM_001350001.2:c.979C>T NP_001336930.1:p.His327Tyr NC_000010.11:30028754:G:A p.(His327Tyr) NC_000010.11:30028754:G:A p.(His327Tyr) NC_000010.11:30028754:G:A Identity +NM_001350001.2:c.469C>T NP_001336930.1:p.Pro157Ser NC_000010.11:30029264:G:A p.(Pro157Ser) NC_000010.11:30029264:G:A p.(Pro157Ser) NC_000010.11:30029264:G:A Identity +NM_001098625.3:c.335G>A NP_001092095.1:p.Arg112His NC_000014.9:59495118:G:A p.(Arg112His) NC_000014.9:59495118:G:A p.(Arg112His) NC_000014.9:59495118:G:A Identity +NM_001256876.3:c.2075T>A NP_001243805.1:p.Ile692Lys NC_000009.12:712840:T:A p.(Ile692Lys) NC_000009.12:712840:T:A p.(Ile692Lys) NC_000009.12:712840:T:A Identity +NM_001136191.3:c.1717A>G NP_001129663.1:p.Thr573Ala NC_000019.10:11176620:T:C p.(Thr573Ala) NC_000019.10:11176620:T:C p.(Thr573Ala) NC_000019.10:11176620:T:C Identity +NM_001307976.2:c.364A>C NP_001294905.1:p.Ser122Arg NC_000002.12:210154218:T:G p.(Ser122Arg) NC_000002.12:210154218:T:G p.(Ser122Arg) NC_000002.12:210154218:T:G Identity +NM_001039130.2:c.896A>G NP_001034219.1:p.Gln299Arg NC_000017.11:8045283:A:G p.(Gln299Arg) NC_000017.11:8045283:A:G p.(Gln299Arg) NC_000017.11:8045283:A:G Identity +NM_015202.5:c.3059T>C NP_056017.4:p.Ile1020Thr NC_000016.10:27750018:T:C p.(Ile1020Thr) NC_000016.10:27750018:T:C p.(Ile1020Thr) NC_000016.10:27750018:T:C Identity +NM_015202.5:c.392G>A NP_056017.4:p.Arg131His NC_000016.10:27631145:G:A p.(Arg131His) NC_000016.10:27631145:G:A p.(Arg131His) NC_000016.10:27631145:G:A Identity +NM_019112.4:c.842G>T NP_061985.2:p.Arg281Leu NC_000019.10:1043384:G:T p.(Arg281Leu) NC_000019.10:1043384:G:T p.(Arg281Leu) NC_000019.10:1043384:G:T Identity +NM_001318716.2:c.518T>C NP_001305645.1:p.Met173Thr NC_000011.10:47577628:A:G p.(Met173Thr) NC_000011.10:47577628:A:G p.(Met173Thr) NC_000011.10:47577628:A:G Identity +NM_001369780.1:c.610C>T NP_001356709.1:p.Arg204Cys NC_000019.10:35754311:C:T p.(Arg204Cys) NC_000019.10:35754311:C:T p.(Arg204Cys) NC_000019.10:35754311:C:T Identity +NM_001416100.1:c.212G>T NP_001403029.1:p.Gly71Val NC_000019.10:42410748:C:A p.(Gly71Val) NC_000019.10:42410748:C:A p.(Gly71Val) NC_000019.10:42410748:C:A Identity +NM_153234.5:c.274C>T NP_694966.3:p.Arg92Trp NC_000005.10:97107472:G:A p.(Arg92Trp) NC_000005.10:97107472:G:A p.(Arg92Trp) NC_000005.10:97107472:G:A Identity +NM_001007125.3:c.503C>T NP_001007126.1:p.Pro168Leu NC_000020.11:64083604:G:A p.(Pro168Leu) NC_000020.11:64083604:G:A p.(Pro168Leu) NC_000020.11:64083604:G:A Identity +NM_001015002.2:c.310G>T NP_001015002.1:p.Val104Phe NC_000017.11:75558565:G:T p.(Val104Phe) NC_000017.11:75558565:G:T p.(Val104Phe) NC_000017.11:75558565:G:T Identity +NM_001145472.3:c.868C>A NP_001138944.1:p.Pro290Thr NC_000018.10:46534345:G:T p.(Pro290Thr) NC_000018.10:46534345:G:T p.(Pro290Thr) NC_000018.10:46534345:G:T Identity +NM_012152.3:c.232T>C NP_036284.1:p.Phe78Leu NC_000001.11:84865888:A:G p.(Phe78Leu) NC_000001.11:84865888:A:G p.(Phe78Leu) NC_000001.11:84865888:A:G Identity +NM_001261427.3:c.2534A>T NP_001248356.1:p.Tyr845Phe NC_000002.12:11824633:A:T p.(Tyr845Phe) NC_000002.12:11824633:A:T p.(Tyr845Phe) NC_000002.12:11824633:A:T Identity +NM_001301860.2:c.2206G>A NP_001288789.1:p.Glu736Lys NC_000020.11:41358246:G:A p.(Glu736Lys) NC_000020.11:41358246:G:A p.(Glu736Lys) NC_000020.11:41358246:G:A Identity +NM_000237.3:c.478C>G NP_000228.1:p.Leu160Val NC_000008.11:19953357:C:G p.(Leu160Val) NC_000008.11:19953357:C:G p.(Leu160Val) NC_000008.11:19953357:C:G Identity +NM_001160102.2:c.1250C>G NP_001153574.1:p.Thr417Ser NC_000017.11:58264953:C:G p.(Thr417Ser) NC_000017.11:58264953:C:G p.(Thr417Ser) NC_000017.11:58264953:C:G Identity +NM_001369364.1:c.744C>G NP_001356293.1:p.His248Gln NC_000002.12:14634722:C:G p.(His248Gln) NC_000002.12:14634722:C:G p.(His248Gln) NC_000002.12:14634722:C:G Identity +NM_001365700.3:c.358C>T NP_001352629.1:p.Arg120Cys NC_000007.14:134137082:C:T p.(Arg120Cys) NC_000007.14:134137082:C:T p.(Arg120Cys) NC_000007.14:134137082:C:T Identity +NM_018557.3:c.13489A>C NP_061027.2:p.Met4497Leu NC_000002.12:140238222:T:G p.(Met4497Leu) NC_000002.12:140238222:T:G p.(Met4497Leu) NC_000002.12:140238222:T:G Identity +NM_018557.3:c.6494G>A NP_061027.2:p.Arg2165Gln NC_000002.12:140700554:C:T p.(Arg2165Gln) NC_000002.12:140700554:C:T p.(Arg2165Gln) NC_000002.12:140700554:C:T Identity +NM_001286274.2:c.566A>C NP_001273203.1:p.His189Pro NC_000006.12:57053145:A:C p.(His189Pro) NC_000006.12:57053145:A:C p.(His189Pro) NC_000006.12:57053145:A:C Identity +NM_001018054.3:c.1246G>T NP_001018064.1:p.Ala416Ser NC_000001.11:53271033:C:A p.(Ala416Ser) NC_000001.11:53271033:C:A p.(Ala416Ser) NC_000001.11:53271033:C:A Identity +NM_001018054.3:c.2498C>T NP_001018064.1:p.Pro833Leu NC_000001.11:53255121:G:A p.(Pro833Leu) NC_000001.11:53255121:G:A p.(Pro833Leu) NC_000001.11:53255121:G:A Identity +NM_001199866.2:c.3680T>C NP_001186795.1:p.Met1227Thr NC_000020.11:16367644:A:G p.(Met1227Thr) NC_000020.11:16367644:A:G p.(Met1227Thr) NC_000020.11:16367644:A:G Identity +NM_031217.4:c.1424A>C NP_112494.3:p.Lys475Thr NC_000011.10:28077007:T:G p.(Lys475Thr) NC_000011.10:28077007:T:G p.(Lys475Thr) NC_000011.10:28077007:T:G Identity +NM_005733.3:c.2492G>A NP_005724.1:p.Gly831Asp NC_000005.10:138187231:G:A p.(Gly831Asp) NC_000005.10:138187231:G:A p.(Gly831Asp) NC_000005.10:138187231:G:A Identity +NM_015656.2:c.1231G>C NP_056471.1:p.Gly411Arg NC_000014.9:104171839:G:C p.(Gly411Arg) NC_000014.9:104171839:G:C p.(Gly411Arg) NC_000014.9:104171839:G:C Identity +NM_015656.2:c.5369G>A NP_056471.1:p.Arg1790Gln NC_000014.9:104179287:G:A p.(Arg1790Gln) NC_000014.9:104179287:G:A p.(Arg1790Gln) NC_000014.9:104179287:G:A Identity +NM_001271927.3:c.2796G>C NP_001258856.1:p.Leu932Phe NC_000009.12:83859311:C:G p.(Leu932Phe) NC_000009.12:83859311:C:G p.(Leu932Phe) NC_000009.12:83859311:C:G Identity +NM_001267782.2:c.802A>G NP_001254711.1:p.Thr268Ala NC_000011.10:46542944:T:C p.(Thr268Ala) NC_000011.10:46542944:T:C p.(Thr268Ala) NC_000011.10:46542944:T:C Identity +NM_001099293.3:c.3445G>A NP_001092763.1:p.Glu1149Lys NC_000005.10:155017303:G:A p.(Glu1149Lys) NC_000005.10:155017303:G:A p.(Glu1149Lys) NC_000005.10:155017303:G:A Identity +NM_001130099.1:c.403G>A NP_001123571.1:p.Glu135Lys NC_000016.10:57770645:C:T p.(Glu135Lys) NC_000016.10:57770645:C:T p.(Glu135Lys) NC_000016.10:57770645:C:T Identity +NM_024496.4:c.1946C>T NP_078772.1:p.Thr649Ile NC_000014.9:77025846:G:A p.(Thr649Ile) NC_000014.9:77025846:G:A p.(Thr649Ile) NC_000014.9:77025846:G:A Identity +NM_175737.4:c.1456A>G NP_783864.1:p.Lys486Glu NC_000004.12:39437845:A:G p.(Lys486Glu) NC_000004.12:39437845:A:G p.(Lys486Glu) NC_000004.12:39437845:A:G Identity +NM_152704.4:c.599G>A NP_689917.2:p.Gly200Asp NC_000013.11:25171020:C:T p.(Gly200Asp) NC_000013.11:25171020:C:T p.(Gly200Asp) NC_000013.11:25171020:C:T Identity +NM_152375.3:c.2273G>A NP_689588.2:p.Gly758Asp NC_000001.11:18483253:G:A p.(Gly758Asp) NC_000001.11:18483253:G:A p.(Gly758Asp) NC_000001.11:18483253:G:A Identity +NM_024105.4:c.1300A>G NP_077010.1:p.Met434Val NC_000022.11:49904004:T:C p.(Met434Val) NC_000022.11:49904004:T:C p.(Met434Val) NC_000022.11:49904004:T:C Identity +NM_001303051.2:c.1403G>C NP_001289980.1:p.Cys468Ser NC_000001.11:202894595:C:G p.(Cys468Ser) NC_000001.11:202894595:C:G p.(Cys468Ser) NC_000001.11:202894595:C:G Identity +NM_001199290.3:c.1459G>C NP_001186219.1:p.Glu487Gln NC_000002.12:169749513:G:C p.(Glu487Gln) NC_000002.12:169749513:G:C p.(Glu487Gln) NC_000002.12:169749513:G:C Identity +NM_022480.4:c.1180G>A NP_071925.2:p.Gly394Arg NC_000015.10:85768630:C:T p.(Gly394Arg) NC_000015.10:85768630:C:T p.(Gly394Arg) NC_000015.10:85768630:C:T Identity +NM_052920.2:c.1547C>T NP_443152.1:p.Ala516Val NC_000002.12:23695626:C:T p.(Ala516Val) NC_000002.12:23695626:C:T p.(Ala516Val) NC_000002.12:23695626:C:T Identity +NM_002257.4:c.587T>A NP_002248.1:p.Phe196Tyr NC_000019.10:50819944:A:T p.(Phe196Tyr) NC_000019.10:50819944:A:T p.(Phe196Tyr) NC_000019.10:50819944:A:T Identity +NM_019016.3:c.185G>A NP_061889.2:p.Gly62Asp NC_000017.11:40703508:C:T p.(Gly62Asp) NC_000017.11:40703508:C:T p.(Gly62Asp) NC_000017.11:40703508:C:T Identity +NM_006771.4:c.1256C>T NP_006762.3:p.Pro419Leu NC_000017.11:41437526:G:A p.(Pro419Leu) NC_000017.11:41437526:G:A p.(Pro419Leu) NC_000017.11:41437526:G:A Identity +NM_002282.3:c.1390G>A NP_002273.3:p.Gly464Arg NC_000012.12:52314722:C:T p.(Gly464Arg) NC_000012.12:52314722:C:T p.(Gly464Arg) NC_000012.12:52314722:C:T Identity +NM_181608.2:c.58G>A NP_853639.1:p.Gly20Ser NC_000021.9:30487290:C:T p.(Gly20Ser) NC_000021.9:30487290:C:T p.(Gly20Ser) NC_000021.9:30487290:C:T Identity +NM_001128077.1:c.34G>A NP_001121549.1:p.Gly12Ser NC_000021.9:30642921:G:A p.(Gly12Ser) NC_000021.9:30642921:G:A p.(Gly12Ser) NC_000021.9:30642921:G:A Identity +NM_033185.3:c.220A>T NP_149441.1:p.Thr74Ser NC_000017.11:40993877:T:A p.(Thr74Ser) NC_000017.11:40993877:T:A p.(Thr74Ser) NC_000017.11:40993877:T:A Identity +NM_022662.4:c.2486G>A NP_073153.1:p.Gly829Glu NC_000002.12:111831424:C:T p.(Gly829Glu) NC_000002.12:111831424:C:T p.(Gly829Glu) NC_000002.12:111831424:C:T Identity +NM_002291.3:c.5277A>T NP_002282.2:p.Gln1759His NC_000007.14:107924034:T:A p.(Gln1759His) NC_000007.14:107924034:T:A p.(Gln1759His) NC_000007.14:107924034:T:A Identity +NM_001350531.2:c.383C>T NP_001337460.1:p.Ser128Leu NC_000004.12:128114686:C:T p.(Ser128Leu) NC_000004.12:128114686:C:T p.(Ser128Leu) NC_000004.12:128114686:C:T Identity +NM_001137559.1:c.689G>A NP_001131031.1:p.Arg230Lys NC_000012.12:121331392:C:T p.(Arg230Lys) NC_000012.12:121331392:C:T p.(Arg230Lys) NC_000012.12:121331392:C:T Identity +NM_001278562.3:c.577C>T NP_001265491.1:p.Arg193Cys NC_000015.10:66553084:G:A p.(Arg193Cys) NC_000015.10:66553084:G:A p.(Arg193Cys) NC_000015.10:66553084:G:A Identity +NM_181501.2:c.3085A>G NP_852478.1:p.Asn1029Asp NC_000005.10:52939595:A:G p.(Asn1029Asp) NC_000005.10:52939595:A:G p.(Asn1029Asp) NC_000005.10:52939595:A:G Identity +NM_001004439.2:c.826G>A NP_001004439.1:p.Asp276Asn NC_000015.10:68351325:C:T p.(Asp276Asn) NC_000015.10:68351325:C:T p.(Asp276Asn) NC_000015.10:68351325:C:T Identity +NM_019112.4:c.4058G>A NP_061985.2:p.Arg1353Gln NC_000019.10:1055203:G:A p.(Arg1353Gln) NC_000019.10:1055203:G:A p.(Arg1353Gln) NC_000019.10:1055203:G:A Identity +NM_001144999.3:c.2351C>T NP_001138471.2:p.Pro784Leu NC_000002.12:186668816:C:T p.(Pro784Leu) NC_000002.12:186668816:C:T p.(Pro784Leu) NC_000002.12:186668816:C:T Identity +NM_000887.5:c.871G>A NP_000878.2:p.Ala291Thr NC_000016.10:31361071:G:A p.(Ala291Thr) NC_000016.10:31361071:G:A p.(Ala291Thr) NC_000016.10:31361071:G:A Identity +NM_001303277.3:c.418G>A NP_001290206.1:p.Val140Met NC_000023.11:71304574:G:A p.(Val140Met) NC_000023.11:71304574:G:A p.(Val140Met) NC_000023.11:71304574:G:A Identity +NM_001099952.4:c.5110T>A NP_001093422.2:p.Tyr1704Asn NC_000003.12:4733120:T:A p.(Tyr1704Asn) NC_000003.12:4733120:T:A p.(Tyr1704Asn) NC_000003.12:4733120:T:A Identity +NM_001042507.4:c.104T>A NP_001035972.1:p.Val35Glu NC_000019.10:38790696:T:A p.(Val35Glu) NC_000019.10:38790696:T:A p.(Val35Glu) NC_000019.10:38790696:T:A Identity +NM_001330163.2:c.499A>T NP_001317092.1:p.Thr167Ser NC_000017.11:27645878:A:T p.(Thr167Ser) NC_000017.11:27645878:A:T p.(Thr167Ser) NC_000017.11:27645878:A:T Identity +NM_001042685.3:c.865T>A NP_001036150.1:p.Ser289Thr NC_000017.11:20451536:A:T p.(Ser289Thr) NC_000017.11:20451536:A:T p.(Ser289Thr) NC_000017.11:20451536:A:T Identity +NM_139284.3:c.557C>T NP_644813.1:p.Ala186Val NC_000019.10:35131456:G:A p.(Ala186Val) NC_000019.10:35131456:G:A p.(Ala186Val) NC_000019.10:35131456:G:A Identity +NM_001346432.2:c.425C>T NP_001333361.1:p.Thr142Met NC_000011.10:27385372:G:A p.(Thr142Met) NC_000011.10:27385372:G:A p.(Thr142Met) NC_000011.10:27385372:G:A Identity +NM_001017403.2:c.1702G>A NP_001017403.1:p.Val568Met NC_000001.11:202318004:G:A p.(Val568Met) NC_000001.11:202318004:G:A p.(Val568Met) NC_000001.11:202318004:G:A Identity +NM_001130445.3:c.3397G>A NP_001123917.1:p.Ala1133Thr NC_000002.12:181922133:G:A p.(Ala1133Thr) NC_000002.12:181922133:G:A p.(Ala1133Thr) NC_000002.12:181922133:G:A Identity +NM_001348181.2:c.1242G>T NP_001335110.1:p.Lys414Asn NC_000002.12:24299968:C:A p.(Lys414Asn) NC_000002.12:24299968:C:A p.(Lys414Asn) NC_000002.12:24299968:C:A Identity +NM_005779.3:c.106G>C NP_005770.1:p.Gly36Arg NC_000005.10:78510107:C:G p.(Gly36Arg) NC_000005.10:78510107:C:G p.(Gly36Arg) NC_000005.10:78510107:C:G Identity +NM_005547.4:c.1714C>G NP_005538.2:p.Gln572Glu NC_000001.11:152911510:C:G p.(Gln572Glu) NC_000001.11:152911510:C:G p.(Gln572Glu) NC_000001.11:152911510:C:G Identity +NM_001410923.1:c.1412A>C NP_001397852.1:p.Asn471Thr NC_000002.12:127502869:T:G p.(Asn471Thr) NC_000002.12:127502869:T:G p.(Asn471Thr) NC_000002.12:127502869:T:G Identity +NM_001077445.3:c.1849A>G NP_001070913.1:p.Lys617Glu NC_000023.11:47058453:A:G p.(Lys617Glu) NC_000023.11:47058453:A:G p.(Lys617Glu) NC_000023.11:47058453:A:G Identity +NM_018436.4:c.239C>G NP_060906.3:p.Ser80Cys NC_000002.12:3679934:C:G p.(Ser80Cys) NC_000002.12:3679934:C:G p.(Ser80Cys) NC_000002.12:3679934:C:G Identity +NM_001114633.2:c.221A>G NP_001108105.1:p.Asn74Ser NC_000015.10:41840774:A:G p.(Asn74Ser) NC_000015.10:41840774:A:G p.(Asn74Ser) NC_000015.10:41840774:A:G Identity +NM_000697.3:c.1816C>G NP_000688.2:p.Pro606Ala NC_000017.11:7010246:C:G p.(Pro606Ala) NC_000017.11:7010246:C:G p.(Pro606Ala) NC_000017.11:7010246:C:G Identity +NM_001320269.2:c.411_412del NP_001307198.1:p.Gly138fs NC_000001.11:62266754:CA: p.(Gly138AspfsTer28) NC_000001.11:62266754:CA: p.(Gly138AspfsTer28) NC_000001.11:62266754:CA: Analogous +NM_144688.5:c.212A>G NP_653289.3:p.Asp71Gly NC_000019.10:49395168:A:G p.(Asp71Gly) NC_000019.10:49395168:A:G p.(Asp71Gly) NC_000019.10:49395168:A:G Identity +NM_001014380.3:c.1373A>T NP_001014402.1:p.Lys458Ile NC_000013.11:30208639:T:A p.(Lys458Ile) NC_000013.11:30208639:T:A p.(Lys458Ile) NC_000013.11:30208639:T:A Identity +NM_022358.4:c.302C>T NP_071753.2:p.Pro101Leu NC_000020.11:44750146:C:T p.(Pro101Leu) NC_000020.11:44750146:C:T p.(Pro101Leu) NC_000020.11:44750146:C:T Identity +NM_001135111.2:c.673G>A NP_001128583.1:p.Gly225Ser NC_000006.12:39303971:C:T p.(Gly225Ser) NC_000006.12:39303971:C:T p.(Gly225Ser) NC_000006.12:39303971:C:T Identity +NM_005714.2:c.295G>A NP_005705.1:p.Ala99Thr NC_000011.10:65595477:C:T p.(Ala99Thr) NC_000011.10:65595477:C:T p.(Ala99Thr) NC_000011.10:65595477:C:T Identity +NM_001272003.2:c.2992A>G NP_001258932.1:p.Thr998Ala NC_000009.12:135784859:A:G p.(Thr998Ala) NC_000009.12:135784859:A:G p.(Thr998Ala) NC_000009.12:135784859:A:G Identity +NM_001282684.2:c.811G>A NP_001269613.2:p.Glu271Lys NC_000022.11:37061564:G:A p.(Glu271Lys) NC_000022.11:37061564:G:A p.(Glu271Lys) NC_000022.11:37061564:G:A Identity +NM_001100915.3:c.924G>C NP_001094385.1:p.Glu308Asp NC_000016.10:67299424:C:G p.(Glu308Asp) NC_000016.10:67299424:C:G p.(Glu308Asp) NC_000016.10:67299424:C:G Identity +NM_001005366.2:c.1925C>T NP_001005366.1:p.Thr642Met NC_000012.12:121445359:G:A p.(Thr642Met) NC_000012.12:121445359:G:A p.(Thr642Met) NC_000012.12:121445359:G:A Identity +NM_032590.5:c.74A>G NP_115979.3:p.Lys25Arg NC_000012.12:121580837:T:C p.(Lys25Arg) NC_000012.12:121580837:T:C p.(Lys25Arg) NC_000012.12:121580837:T:C Identity +NM_001146695.4:c.1681G>A NP_001140167.1:p.Ala561Thr NC_000009.12:6990418:G:A p.(Ala561Thr) NC_000009.12:6990418:G:A p.(Ala561Thr) NC_000009.12:6990418:G:A Identity +NM_001146695.4:c.2363C>T NP_001140167.1:p.Thr788Ile NC_000009.12:7049138:C:T p.(Thr788Ile) NC_000009.12:7049138:C:T p.(Thr788Ile) NC_000009.12:7049138:C:T Identity +NM_001161630.1:c.1269G>A NP_001155102.1:p.Met423Ile NC_000011.10:95026825:G:A p.(Met423Ile) NC_000011.10:95026825:G:A p.(Met423Ile) NC_000011.10:95026825:G:A Identity +NM_001314042.2:c.3242G>A NP_001300971.1:p.Arg1081Gln NC_000001.11:202736342:C:T p.(Arg1081Gln) NC_000001.11:202736342:C:T p.(Arg1081Gln) NC_000001.11:202736342:C:T Identity +NM_001100590.2:c.1963T>C NP_001094060.1:p.Cys655Arg NC_000004.12:6862344:T:C p.(Cys655Arg) NC_000004.12:6862344:T:C p.(Cys655Arg) NC_000004.12:6862344:T:C Identity +NM_001029864.2:c.2762G>T NP_001025035.1:p.Arg921Leu NC_000020.11:38217391:C:A p.(Arg921Leu) NC_000020.11:38217391:C:A p.(Arg921Leu) NC_000020.11:38217391:C:A Identity +NM_001287036.2:c.571G>A NP_001273965.1:p.Val191Ile NC_000009.12:112574650:G:A p.(Val191Ile) NC_000009.12:112574650:G:A p.(Val191Ile) NC_000009.12:112574650:G:A Identity +NM_153209.4:c.202G>A NP_694941.2:p.Asp68Asn NC_000017.11:74341956:G:A p.(Asp68Asn) NC_000017.11:74341956:G:A p.(Asp68Asn) NC_000017.11:74341956:G:A Identity +NM_001173463.2:c.2116T>A NP_001166934.1:p.Ser706Thr NC_000012.12:39340319:A:T p.(Ser706Thr) NC_000012.12:39340319:A:T p.(Ser706Thr) NC_000012.12:39340319:A:T Identity +NM_001633.4:c.421C>T NP_001624.1:p.His141Tyr NC_000009.12:114074068:G:A p.(His141Tyr) NC_000009.12:114074068:G:A p.(His141Tyr) NC_000009.12:114074068:G:A Identity +NM_001281301.2:c.1364A>G NP_001268230.1:p.Asn455Ser NC_000015.10:69438385:A:G p.(Asn455Ser) NC_000015.10:69438385:A:G p.(Asn455Ser) NC_000015.10:69438385:A:G Identity +NM_013289.4:c.502G>T NP_037421.2:p.Val168Phe NC_000019.10:54819858:G:T p.(Val168Phe) NC_000019.10:54819858:G:T p.(Val168Phe) NC_000019.10:54819858:G:T Identity +NM_001329530.2:c.1956G>T NP_001316459.1:p.Pro652= NC_000019.10:35866470:G:T p.(Pro652=) NC_000019.10:35866470:G:T p.(Pro652=) NC_000019.10:35866470:G:T Identity +NM_152704.4:c.1772C>T NP_689917.2:p.Thr591Ile NC_000013.11:25169847:G:A p.(Thr591Ile) NC_000013.11:25169847:G:A p.(Thr591Ile) NC_000013.11:25169847:G:A Identity +NM_001136037.4:c.565A>G NP_001129509.2:p.Thr189Ala NC_000002.12:127642932:T:C p.(Thr189Ala) NC_000002.12:127642932:T:C p.(Thr189Ala) NC_000002.12:127642932:T:C Identity +NM_018362.4:c.79A>G NP_060832.1:p.Ser27Gly NC_000011.10:27501878:T:C p.(Ser27Gly) NC_000011.10:27501878:T:C p.(Ser27Gly) NC_000011.10:27501878:T:C Identity +NM_001416100.1:c.1201C>T NP_001403029.1:p.His401Tyr NC_000019.10:42407359:G:A p.(His401Tyr) NC_000019.10:42407359:G:A p.(His401Tyr) NC_000019.10:42407359:G:A Identity +NM_001302998.2:c.403A>G NP_001289927.1:p.Ser135Gly NC_000021.9:14189062:T:C p.(Ser135Gly) NC_000021.9:14189062:T:C p.(Ser135Gly) NC_000021.9:14189062:T:C Identity +NM_032138.7:c.1027A>C NP_115514.2:p.Lys343Gln NC_000013.11:41193230:T:G p.(Lys343Gln) NC_000013.11:41193230:T:G p.(Lys343Gln) NC_000013.11:41193230:T:G Identity +NM_004732.4:c.85G>A NP_004723.2:p.Gly29Arg NC_000017.11:7929350:C:T p.(Gly29Arg) NC_000017.11:7929350:C:T p.(Gly29Arg) NC_000017.11:7929350:C:T Identity +NM_006063.3:c.992A>G NP_006054.2:p.Glu331Gly NC_000002.12:169510769:A:G p.(Glu331Gly) NC_000002.12:169510769:A:G p.(Glu331Gly) NC_000002.12:169510769:A:G Identity +NM_144947.3:c.86C>G NP_659196.1:p.Pro29Arg NC_000019.10:51025641:G:C p.(Pro29Arg) NC_000019.10:51025641:G:C p.(Pro29Arg) NC_000019.10:51025641:G:C Identity +NM_001348177.2:c.91G>A NP_001335106.1:p.Gly31Arg NC_000019.10:51060580:C:T p.(Gly31Arg) NC_000019.10:51060580:C:T p.(Gly31Arg) NC_000019.10:51060580:C:T Identity +NM_001144869.3:c.136G>A NP_001138341.1:p.Ala46Thr NC_000011.10:74493567:C:T p.(Ala46Thr) NC_000011.10:74493567:C:T p.(Ala46Thr) NC_000011.10:74493567:C:T Identity +NM_001278233.2:c.31C>T NP_001265162.1:p.Arg11Trp NC_000003.12:8537302:C:T p.(Arg11Trp) NC_000003.12:8537302:C:T p.(Arg11Trp) NC_000003.12:8537302:C:T Identity +NM_001314030.2:c.2039C>T NP_001300959.1:p.Thr680Met NC_000012.12:49555701:C:T p.(Thr680Met) NC_000012.12:49555701:C:T p.(Thr680Met) NC_000012.12:49555701:C:T Identity +NM_033272.4:c.2627G>A NP_150375.2:p.Arg876Gln NC_000002.12:162394471:C:T p.(Arg876Gln) NC_000002.12:162394471:C:T p.(Arg876Gln) NC_000002.12:162394471:C:T Identity +NM_000892.5:c.1634A>C NP_000883.2:p.Asn545Thr NC_000004.12:186257273:A:C p.(Asn545Thr) NC_000004.12:186257273:A:C p.(Asn545Thr) NC_000004.12:186257273:A:C Identity +NM_001114396.3:c.515A>C NP_001107868.2:p.Tyr172Ser NC_000012.12:10314767:A:C p.(Tyr172Ser) NC_000012.12:10314767:A:C p.(Tyr172Ser) NC_000012.12:10314767:A:C Identity +NM_198508.4:c.937G>T NP_940910.1:p.Ala313Ser NC_000007.14:139479694:C:A p.(Ala313Ser) NC_000007.14:139479694:C:A p.(Ala313Ser) NC_000007.14:139479694:C:A Identity +NM_032737.4:c.1581G>T NP_116126.3:p.Gln527His NC_000019.10:2432424:C:A p.(Gln527His) NC_000019.10:2432424:C:A p.(Gln527His) NC_000019.10:2432424:C:A Identity +NM_005575.3:c.2045A>G NP_005566.2:p.Asn682Ser NC_000005.10:97013656:A:G p.(Asn682Ser) NC_000005.10:97013656:A:G p.(Asn682Ser) NC_000005.10:97013656:A:G Identity +NM_001276479.2:c.718A>G NP_001263408.1:p.Ile240Val NC_000019.10:5708363:T:C p.(Ile240Val) NC_000019.10:5708363:T:C p.(Ile240Val) NC_000019.10:5708363:T:C Identity +NM_001031855.3:c.110C>T NP_001027026.1:p.Pro37Leu NC_000023.11:118974889:C:T p.(Pro37Leu) NC_000023.11:118974889:C:T p.(Pro37Leu) NC_000023.11:118974889:C:T Identity +NM_000427.3:c.305G>C NP_000418.2:p.Gly102Ala NC_000001.11:153261253:G:C p.(Gly102Ala) NC_000001.11:153261253:G:C p.(Gly102Ala) NC_000001.11:153261253:G:C Identity +NM_005577.4:c.2827G>A NP_005568.2:p.Gly943Arg NC_000006.12:160605163:C:T p.(Gly943Arg) NC_000006.12:160605163:C:T p.(Gly943Arg) NC_000006.12:160605163:C:T Identity +NM_005577.4:c.3992G>A NP_005568.2:p.Arg1331His NC_000006.12:160586585:C:T p.(Arg1331His) NC_000006.12:160586585:C:T p.(Arg1331His) NC_000006.12:160586585:C:T Identity +NM_001301860.2:c.695G>A NP_001288789.1:p.Arg232Gln NC_000020.11:41349826:G:A p.(Arg232Gln) NC_000020.11:41349826:G:A p.(Arg232Gln) NC_000020.11:41349826:G:A Identity +NM_001363524.2:c.1523C>T NP_001350453.1:p.Ala508Val NC_000011.10:66859809:C:T p.(Ala508Val) NC_000011.10:66859809:C:T p.(Ala508Val) NC_000011.10:66859809:C:T Identity +NM_001363524.2:c.313G>A NP_001350453.1:p.Gly105Ser NC_000011.10:66858056:G:A p.(Gly105Ser) NC_000011.10:66858056:G:A p.(Gly105Ser) NC_000011.10:66858056:G:A Identity +NM_001136051.3:c.2597C>T NP_001129523.1:p.Thr866Ile NC_000012.12:58874491:G:A p.(Thr866Ile) NC_000012.12:58874491:G:A p.(Thr866Ile) NC_000012.12:58874491:G:A Identity +NM_002332.3:c.2185A>G NP_002323.2:p.Asn729Asp NC_000012.12:57161097:A:G p.(Asn729Asp) NC_000012.12:57161097:A:G p.(Asn729Asp) NC_000012.12:57161097:A:G Identity +NM_002332.3:c.9860C>T NP_002323.2:p.Pro3287Leu NC_000012.12:57199394:C:T p.(Pro3287Leu) NC_000012.12:57199394:C:T p.(Pro3287Leu) NC_000012.12:57199394:C:T Identity +NM_018557.3:c.4715T>G NP_061027.2:p.Met1572Arg NC_000002.12:140850325:A:C p.(Met1572Arg) NC_000002.12:140850325:A:C p.(Met1572Arg) NC_000002.12:140850325:A:C Identity +NM_018557.3:c.7148G>A NP_061027.2:p.Ser2383Asn NC_000002.12:140598676:C:T p.(Ser2383Asn) NC_000002.12:140598676:C:T p.(Ser2383Asn) NC_000002.12:140598676:C:T Identity +NM_182703.6:c.1462A>C NP_874362.3:p.Ile488Leu NC_000015.10:64949950:A:C p.(Ile488Leu) NC_000015.10:64949950:A:C p.(Ile488Leu) NC_000015.10:64949950:A:C Identity +NM_201550.4:c.581T>G NP_963844.2:p.Val194Gly NC_000012.12:69610257:A:C p.(Val194Gly) NC_000012.12:69610257:A:C p.(Val194Gly) NC_000012.12:69610257:A:C Identity +NM_001080478.3:c.1342C>G NP_001073947.1:p.Gln448Glu NC_000005.10:195149:C:G p.(Gln448Glu) NC_000005.10:195149:C:G p.(Gln448Glu) NC_000005.10:195149:C:G Identity +NM_001278211.2:c.230G>A NP_001265140.1:p.Arg77Gln NC_000010.11:70340554:C:T p.(Arg77Gln) NC_000010.11:70340554:C:T p.(Arg77Gln) NC_000010.11:70340554:C:T Identity +NM_001386974.1:c.179G>A NP_001373903.1:p.Arg60Gln NC_000019.10:17974066:G:A p.(Arg60Gln) NC_000019.10:17974066:G:A p.(Arg60Gln) NC_000019.10:17974066:G:A Identity +NM_014663.3:c.1786C>T NP_055478.2:p.Arg596Cys NC_000001.11:43683734:C:T p.(Arg596Cys) NC_000001.11:43683734:C:T p.(Arg596Cys) NC_000001.11:43683734:C:T Identity +NM_033404.2:c.647G>A NP_208383.2:p.Arg216Gln NC_000010.11:133185994:G:A ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:Data provider error: ValueError: Transcript NM_033404.2 not found ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.2, alt_ac=NM_033404.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.2 not found +NM_024507.4:c.527C>T NP_078783.1:p.Ser176Phe NC_000016.10:2966681:C:T p.(Ser176Phe) NC_000016.10:2966681:C:T p.(Ser176Phe) NC_000016.10:2966681:C:T Identity +NM_001301007.2:c.2135T>A NP_001287936.1:p.Ile712Asn NC_000011.10:94865964:T:A p.(Ile712Asn) NC_000011.10:94865964:T:A p.(Ile712Asn) NC_000011.10:94865964:T:A Identity +NM_152349.3:c.336G>T NP_689562.1:p.Arg112Ser NC_000017.11:40660096:C:A p.(Arg112Ser) NC_000017.11:40660096:C:A p.(Arg112Ser) NC_000017.11:40660096:C:A Identity +NM_002272.4:c.1237G>A NP_002263.3:p.Glu413Lys NC_000012.12:52807752:C:T p.(Glu413Lys) NC_000012.12:52807752:C:T p.(Glu413Lys) NC_000012.12:52807752:C:T Identity +NM_001385217.1:c.766A>G NP_001372146.1:p.Arg256Gly NC_000017.11:40981072:T:C p.(Arg256Gly) NC_000017.11:40981072:T:C p.(Arg256Gly) NC_000017.11:40981072:T:C Identity +NM_198687.2:c.301G>A NP_941960.2:p.Ala101Thr NC_000021.9:44574058:G:A p.(Ala101Thr) NC_000021.9:44574058:G:A p.(Ala101Thr) NC_000021.9:44574058:G:A Identity +NM_031957.2:c.410G>A NP_114163.1:p.Ser137Asn NC_000017.11:41026745:C:T p.(Ser137Asn) NC_000017.11:41026745:C:T p.(Ser137Asn) NC_000017.11:41026745:C:T Identity +NM_031957.2:c.494G>A NP_114163.1:p.Arg165His NC_000017.11:41026661:C:T p.(Arg165His) NC_000017.11:41026661:C:T p.(Arg165His) NC_000017.11:41026661:C:T Identity +NM_001012416.1:c.302G>A NP_001012416.1:p.Gly101Glu NC_000011.10:1697546:G:A p.(Gly101Glu) NC_000011.10:1697546:G:A p.(Gly101Glu) NC_000011.10:1697546:G:A Identity +NM_001199241.2:c.946A>G NP_001186170.1:p.Met316Val NC_000002.12:143029669:A:G p.(Met316Val) NC_000002.12:143029669:A:G p.(Met316Val) NC_000002.12:143029669:A:G Identity +NM_001330559.2:c.1469A>G NP_001317488.1:p.Gln490Arg NC_000018.10:5969537:T:C p.(Gln490Arg) NC_000018.10:5969537:T:C p.(Gln490Arg) NC_000018.10:5969537:T:C Identity +NM_022662.4:c.2009A>C NP_073153.1:p.Tyr670Ser NC_000002.12:111843442:T:G p.(Tyr670Ser) NC_000002.12:111843442:T:G p.(Tyr670Ser) NC_000002.12:111843442:T:G Identity +NM_018697.4:c.680T>C NP_061167.1:p.Val227Ala NC_000007.14:55401174:T:C p.(Val227Ala) NC_000007.14:55401174:T:C p.(Val227Ala) NC_000007.14:55401174:T:C Identity +NM_001278604.2:c.731A>C NP_001265533.1:p.Glu244Ala NC_000004.12:128098247:A:C p.(Glu244Ala) NC_000004.12:128098247:A:C p.(Glu244Ala) NC_000004.12:128098247:A:C Identity +NM_001278562.3:c.710T>C NP_001265491.1:p.Met237Thr NC_000015.10:66552137:A:G p.(Met237Thr) NC_000015.10:66552137:A:G p.(Met237Thr) NC_000015.10:66552137:A:G Identity +NM_001301782.2:c.970G>A NP_001288711.1:p.Val324Met NC_000019.10:54462556:C:T p.(Val324Met) NC_000019.10:54462556:C:T p.(Val324Met) NC_000019.10:54462556:C:T Identity +NM_001376763.1:c.1013A>G NP_001363692.1:p.Tyr338Cys NC_000001.11:178853597:T:C p.(Tyr338Cys) NC_000001.11:178853597:T:C p.(Tyr338Cys) NC_000001.11:178853597:T:C Identity +NM_001346432.2:c.2497G>A NP_001333361.1:p.Val833Ile NC_000011.10:27368153:C:T p.(Val833Ile) NC_000011.10:27368153:C:T p.(Val833Ile) NC_000011.10:27368153:C:T Identity +NM_001145678.3:c.698G>A NP_001139150.1:p.Arg233Lys NC_000005.10:94520519:C:T p.(Arg233Lys) NC_000005.10:94520519:C:T p.(Arg233Lys) NC_000005.10:94520519:C:T Identity +NM_001410965.1:c.2746G>A NP_001397894.1:p.Ala916Thr NC_000011.10:33606696:G:A p.(Ala916Thr) NC_000011.10:33606696:G:A p.(Ala916Thr) NC_000011.10:33606696:G:A Identity +NM_001145206.2:c.4586C>T NP_001138678.1:p.Thr1529Ile NC_000022.11:25170874:C:T p.(Thr1529Ile) NC_000022.11:25170874:C:T p.(Thr1529Ile) NC_000022.11:25170874:C:T Identity +NM_001029864.2:c.3376C>G NP_001025035.1:p.Pro1126Ala NC_000020.11:38213268:G:C p.(Pro1126Ala) NC_000020.11:38213268:G:C p.(Pro1126Ala) NC_000020.11:38213268:G:C Identity +NM_006492.3:c.392G>A NP_006483.2:p.Ser131Asn NC_000001.11:110064788:C:T p.(Ser131Asn) NC_000001.11:110064788:C:T p.(Ser131Asn) NC_000001.11:110064788:C:T Identity +NM_001199866.2:c.3233T>C NP_001186795.1:p.Ile1078Thr NC_000020.11:16374373:A:G p.(Ile1078Thr) NC_000020.11:16374373:A:G p.(Ile1078Thr) NC_000020.11:16374373:A:G Identity +NM_001122819.3:c.1374G>C NP_001116291.1:p.Lys458Asn NC_000001.11:20690194:C:G p.(Lys458Asn) NC_000001.11:20690194:C:G p.(Lys458Asn) NC_000001.11:20690194:C:G Identity +NM_000234.3:c.1517C>T NP_000225.1:p.Thr506Met NC_000019.10:48135685:G:A p.(Thr506Met) NC_000019.10:48135685:G:A p.(Thr506Met) NC_000019.10:48135685:G:A Identity +NM_001416100.1:c.712G>A NP_001403029.1:p.Gly238Arg NC_000019.10:42408264:C:T p.(Gly238Arg) NC_000019.10:42408264:C:T p.(Gly238Arg) NC_000019.10:42408264:C:T Identity +NM_001416100.1:c.2234C>T NP_001403029.1:p.Pro745Leu NC_000019.10:42402058:G:A p.(Pro745Leu) NC_000019.10:42402058:G:A p.(Pro745Leu) NC_000019.10:42402058:G:A Identity +NM_001010939.3:c.209G>A NP_001010939.2:p.Ser70Asn NC_000010.11:88594023:G:A p.(Ser70Asn) NC_000010.11:88594023:G:A p.(Ser70Asn) NC_000010.11:88594023:G:A Identity +NM_004140.4:c.1183A>G NP_004131.4:p.Ile395Val NC_000017.11:18235210:A:G p.(Ile395Val) NC_000017.11:18235210:A:G p.(Ile395Val) NC_000017.11:18235210:A:G Identity +NM_000037.4:c.4519T>C NP_000028.3:p.Ser1507Pro NC_000008.11:41684561:A:G p.(Ser1507Pro) NC_000008.11:41684561:A:G p.(Ser1507Pro) NC_000008.11:41684561:A:G Identity +NM_001001395.2:c.14A>G NP_001001395.1:p.Gln5Arg NC_000012.12:16600846:T:C p.(Gln5Arg) NC_000012.12:16600846:T:C p.(Gln5Arg) NC_000012.12:16600846:T:C Identity +NM_001300948.3:c.485G>A NP_001287877.1:p.Ser162Asn NC_000016.10:48258633:G:A p.(Ser162Asn) NC_000016.10:48258633:G:A p.(Ser162Asn) NC_000016.10:48258633:G:A Identity +NM_002318.3:c.1087G>A NP_002309.1:p.Val363Ile NC_000008.11:23328444:C:T p.(Val363Ile) NC_000008.11:23328444:C:T p.(Val363Ile) NC_000008.11:23328444:C:T Identity +NM_032211.7:c.535G>A NP_115587.6:p.Val179Met NC_000010.11:98261048:C:T p.(Val179Met) NC_000010.11:98261048:C:T p.(Val179Met) NC_000010.11:98261048:C:T Identity +NM_000237.3:c.756T>G NP_000228.1:p.Ile252Met NC_000008.11:19954333:T:G p.(Ile252Met) NC_000008.11:19954333:T:G p.(Ile252Met) NC_000008.11:19954333:T:G Identity +NM_001167671.3:c.1315G>A NP_001161143.1:p.Val439Met NC_000003.12:188760186:G:A p.(Val439Met) NC_000003.12:188760186:G:A p.(Val439Met) NC_000003.12:188760186:G:A Identity +NM_001363887.1:c.941A>G NP_001350816.1:p.Asn314Ser NC_000003.12:197830822:A:G p.(Asn314Ser) NC_000003.12:197830822:A:G p.(Asn314Ser) NC_000003.12:197830822:A:G Identity +NM_144648.3:c.1999C>A NP_653249.1:p.His667Asn NC_000007.14:134247570:C:A p.(His667Asn) NC_000007.14:134247570:C:A p.(His667Asn) NC_000007.14:134247570:C:A Identity +NM_001291902.2:c.1078T>C NP_001278831.1:p.Cys360Arg NC_000011.10:68414005:T:C p.(Cys360Arg) NC_000011.10:68414005:T:C p.(Cys360Arg) NC_000011.10:68414005:T:C Identity +NM_004631.5:c.2830G>A NP_004622.2:p.Glu944Lys NC_000001.11:53249402:C:T p.(Glu944Lys) NC_000001.11:53249402:C:T p.(Glu944Lys) NC_000001.11:53249402:C:T Identity +NM_001018054.3:c.877G>T NP_001018064.1:p.Asp293Tyr NC_000001.11:53276697:C:A p.(Asp293Tyr) NC_000001.11:53276697:C:A p.(Asp293Tyr) NC_000001.11:53276697:C:A Identity +NM_018012.4:c.5109G>T NP_060482.2:p.Met1703Ile NC_000001.11:245688091:G:T p.(Met1703Ile) NC_000001.11:245688091:G:T p.(Met1703Ile) NC_000001.11:245688091:G:T Identity +NM_001271927.3:c.1148T>G NP_001258856.1:p.Ile383Ser NC_000009.12:83903369:A:C p.(Ile383Ser) NC_000009.12:83903369:A:C p.(Ile383Ser) NC_000009.12:83903369:A:C Identity +NM_002254.8:c.1670A>G NP_002245.4:p.Gln557Arg NC_000002.12:25955640:T:C p.(Gln557Arg) NC_000002.12:25955640:T:C p.(Gln557Arg) NC_000002.12:25955640:T:C Identity +NM_015634.4:c.1004A>G NP_056449.1:p.Glu335Gly NC_000010.11:69015553:A:G p.(Glu335Gly) NC_000010.11:69015553:A:G p.(Glu335Gly) NC_000010.11:69015553:A:G Identity +NM_015634.4:c.406T>A NP_056449.1:p.Ser136Thr NC_000010.11:68989237:T:A p.(Ser136Thr) NC_000010.11:68989237:T:A p.(Ser136Thr) NC_000010.11:68989237:T:A Identity +NM_013289.4:c.86C>G NP_037421.2:p.Pro29Arg NC_000019.10:54818329:C:G p.(Pro29Arg) NC_000019.10:54818329:C:G p.(Pro29Arg) NC_000019.10:54818329:C:G Identity +NM_001163022.3:c.839G>A NP_001156494.1:p.Ser280Asn NC_000020.11:21162954:G:A p.(Ser280Asn) NC_000020.11:21162954:G:A p.(Ser280Asn) NC_000020.11:21162954:G:A Identity +NM_001289034.2:c.1591G>A NP_001275963.1:p.Gly531Arg NC_000006.12:43072925:G:A p.(Gly531Arg) NC_000006.12:43072925:G:A p.(Gly531Arg) NC_000006.12:43072925:G:A Identity +NM_001289034.2:c.1817G>A NP_001275963.1:p.Arg606Gln NC_000006.12:43074628:G:A p.(Arg606Gln) NC_000006.12:43074628:G:A p.(Arg606Gln) NC_000006.12:43074628:G:A Identity +NM_001289034.2:c.260T>G NP_001275963.1:p.Val87Gly NC_000006.12:43062917:T:G p.(Val87Gly) NC_000006.12:43062917:T:G p.(Val87Gly) NC_000006.12:43062917:T:G Identity +NM_016270.4:c.450G>T NP_057354.1:p.Glu150Asp NC_000019.10:16325589:G:T p.(Glu150Asp) NC_000019.10:16325589:G:T p.(Glu150Asp) NC_000019.10:16325589:G:T Identity +NM_012315.2:c.266G>A NP_036447.1:p.Arg89Gln NC_000019.10:51006657:C:T p.(Arg89Gln) NC_000019.10:51006657:C:T p.(Arg89Gln) NC_000019.10:51006657:C:T Identity +NM_033404.1:c.3536G>A NP_208383.1:p.Arg1179Gln NC_000010.11:133207287:G:A ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:Data provider error: ValueError: Transcript NM_033404.1 not found ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_033404.1, alt_ac=NM_033404.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_033404.1 not found +NM_001145715.3:c.214C>G NP_001139187.1:p.Leu72Val NC_000007.14:99196153:G:C p.(Leu72Val) NC_000007.14:99196153:G:C p.(Leu72Val) NC_000007.14:99196153:G:C Identity +NM_001025231.3:c.472G>C NP_001020402.1:p.Ala158Pro NC_000001.11:152760059:G:C p.(Ala158Pro) NC_000001.11:152760059:G:C p.(Ala158Pro) NC_000001.11:152760059:G:C Identity +NM_001304947.3:c.1068G>C NP_001291876.1:p.Glu356Asp NC_000017.11:8369298:C:G p.(Glu356Asp) NC_000017.11:8369298:C:G p.(Glu356Asp) NC_000017.11:8369298:C:G Identity +NM_001304526.2:c.53A>T NP_001291455.1:p.Tyr18Phe NC_000002.12:88028510:T:A p.(Tyr18Phe) NC_000002.12:88028510:T:A p.(Tyr18Phe) NC_000002.12:88028510:T:A Identity +NM_000421.5:c.1541G>A NP_000412.4:p.Gly514Glu NC_000017.11:40818993:C:T p.(Gly514Glu) NC_000017.11:40818993:C:T p.(Gly514Glu) NC_000017.11:40818993:C:T Identity +NM_019010.3:c.266G>A NP_061883.1:p.Arg89Gln NC_000017.11:40884919:C:T p.(Arg89Gln) NC_000017.11:40884919:C:T p.(Arg89Gln) NC_000017.11:40884919:C:T Identity +NM_213656.4:c.1201G>C NP_998821.3:p.Glu401Gln NC_000017.11:40960296:C:G p.(Glu401Gln) NC_000017.11:40960296:C:G p.(Glu401Gln) NC_000017.11:40960296:C:G Identity +NM_080283.4:c.3007C>T NP_525022.2:p.His1003Tyr NC_000017.11:69016284:G:A p.(His1003Tyr) NC_000017.11:69016284:G:A p.(His1003Tyr) NC_000017.11:69016284:G:A Identity +NM_002281.4:c.739A>G NP_002272.2:p.Ile247Val NC_000012.12:52288144:T:C p.(Ile247Val) NC_000012.12:52288144:T:C p.(Ile247Val) NC_000012.12:52288144:T:C Identity +NM_033045.4:c.1618G>T NP_149034.2:p.Ala540Ser NC_000012.12:52378218:C:A p.(Ala540Ser) NC_000012.12:52378218:C:A p.(Ala540Ser) NC_000012.12:52378218:C:A Identity +NM_033059.4:c.466C>T NP_149048.2:p.Arg156Cys NC_000017.11:41117849:G:A p.(Arg156Cys) NC_000017.11:41117849:G:A p.(Arg156Cys) NC_000017.11:41117849:G:A Identity +NM_001322457.1:c.226C>T NP_001309386.1:p.Arg76Cys NC_000017.11:41097888:G:A p.(Arg76Cys) NW_003871091.1:247546:G:A p.(Arg76Cys) NC_000017.11:247546:G:A Identity +NM_001288585.2:c.904A>T NP_001275514.1:p.Ile302Phe NC_000015.10:63127640:A:T p.(Ile302Phe) NC_000015.10:63127640:A:T p.(Ile302Phe) NC_000015.10:63127640:A:T Identity +NM_002288.6:c.148C>T NP_002279.2:p.Arg50Trp NC_000019.10:54507967:C:T p.(Arg50Trp) NC_000019.10:54507967:C:T p.(Arg50Trp) NC_000019.10:54507967:C:T Identity +NM_002288.6:c.218A>C NP_002279.2:p.Asn73Thr NC_000019.10:54508037:A:C p.(Asn73Thr) NC_000019.10:54508037:A:C p.(Asn73Thr) NC_000019.10:54508037:A:C Identity +NM_005560.6:c.1079A>G NP_005551.3:p.Asn360Ser NC_000020.11:62346793:T:C p.(Asn360Ser) NC_000020.11:62346793:T:C p.(Asn360Ser) NC_000020.11:62346793:T:C Identity +NM_022662.4:c.3189C>G NP_073153.1:p.Ile1063Met NC_000002.12:111821255:G:C p.(Ile1063Met) NC_000002.12:111821255:G:C p.(Ile1063Met) NC_000002.12:111821255:G:C Identity +NM_080283.4:c.59G>C NP_525022.2:p.Cys20Ser NC_000017.11:69051067:C:G p.(Cys20Ser) NC_000017.11:69051067:C:G p.(Cys20Ser) NC_000017.11:69051067:C:G Identity +NM_017907.3:c.351A>T NP_060377.1:p.Gln117His NC_000011.10:72098330:T:A p.(Gln117His) NC_000011.10:72098330:T:A p.(Gln117His) NC_000011.10:72098330:T:A Identity +NM_018697.4:c.1093G>A NP_061167.1:p.Gly365Arg NC_000007.14:55425337:G:A p.(Gly365Arg) NC_000007.14:55425337:G:A p.(Gly365Arg) NC_000007.14:55425337:G:A Identity +NM_006762.3:c.197G>C NP_006753.1:p.Ser66Thr NC_000001.11:30741700:C:G p.(Ser66Thr) NC_000001.11:30741700:C:G p.(Ser66Thr) NC_000001.11:30741700:C:G Identity +NM_001267039.4:c.1283A>G NP_001253968.2:p.Lys428Arg NC_000004.12:112649674:A:G p.(Lys428Arg) NC_000004.12:112649674:A:G p.(Lys428Arg) NC_000004.12:112649674:A:G Identity +NM_001137664.2:c.454C>A NP_001131136.2:p.Arg152Ser NC_000012.12:110388577:G:T p.(Arg152Ser) NC_000012.12:110388577:G:T p.(Arg152Ser) NC_000012.12:110388577:G:T Identity +NM_001278562.3:c.277G>A NP_001265491.1:p.Glu93Lys NC_000015.10:66557847:C:T p.(Glu93Lys) NC_000015.10:66557847:C:T p.(Glu93Lys) NC_000015.10:66557847:C:T Identity +NM_001144071.2:c.653T>A NP_001137543.1:p.Ile218Lys NC_000011.10:18476443:T:A p.(Ile218Lys) NC_000011.10:18476443:T:A p.(Ile218Lys) NC_000011.10:18476443:T:A Identity +NM_001039667.3:c.701G>A NP_001034756.1:p.Arg234His NC_000019.10:8371297:G:A p.(Arg234His) NC_000019.10:8371297:G:A p.(Arg234His) NC_000019.10:8371297:G:A Identity +NM_001193485.3:c.81C>G NP_001180414.1:p.His27Gln NC_000002.12:108655154:C:G p.(His27Gln) NC_000002.12:108655154:C:G p.(His27Gln) NC_000002.12:108655154:C:G Identity +NM_001258282.3:c.1349G>C NP_001245211.1:p.Arg450Pro NC_000009.12:27949322:C:G p.(Arg450Pro) NC_000009.12:27949322:C:G p.(Arg450Pro) NC_000009.12:27949322:C:G Identity +NM_001101391.3:c.61C>G NP_001094861.1:p.Pro21Ala NC_000019.10:2291715:G:C p.(Pro21Ala) NC_000019.10:2291715:G:C p.(Pro21Ala) NC_000019.10:2291715:G:C Identity +NM_001007527.2:c.1711T>G NP_001007528.1:p.Leu571Val NC_000005.10:36111187:A:C p.(Leu571Val) NC_000005.10:36111187:A:C p.(Leu571Val) NC_000005.10:36111187:A:C Identity +NM_207163.3:c.492G>T NP_997046.1:p.Lys164Asn NC_000007.14:123662077:G:T p.(Lys164Asn) NC_000007.14:123662077:G:T p.(Lys164Asn) NC_000007.14:123662077:G:T Identity +NM_024830.5:c.541G>A NP_079106.3:p.Asp181Asn NC_000005.10:1489810:C:T p.(Asp181Asn) NC_000005.10:1489810:C:T p.(Asp181Asn) NC_000005.10:1489810:C:T Identity +NM_153613.3:c.406A>C NP_705841.2:p.Ile136Leu NC_000015.10:34365079:T:G p.(Ile136Leu) NC_000015.10:34365079:T:G p.(Ile136Leu) NC_000015.10:34365079:T:G Identity +NM_001143995.3:c.209A>G NP_001137467.1:p.Asn70Ser NC_000011.10:58564178:T:C p.(Asn70Ser) NC_000011.10:58564178:T:C p.(Asn70Ser) NC_000011.10:58564178:T:C Identity +NM_174911.5:c.337C>T NP_777571.1:p.Leu113Phe NC_000008.11:126557052:G:A p.(Leu113Phe) NC_000008.11:126557052:G:A p.(Leu113Phe) NC_000008.11:126557052:G:A Identity +NM_001312686.2:c.73G>A NP_001299615.1:p.Val25Ile NC_000001.11:113093430:G:A p.(Val25Ile) NC_000001.11:113093430:G:A p.(Val25Ile) NC_000001.11:113093430:G:A Identity +NM_182703.6:c.680C>T NP_874362.3:p.Thr227Ile NC_000015.10:64931496:C:T p.(Thr227Ile) NC_000015.10:64931496:C:T p.(Thr227Ile) NC_000015.10:64931496:C:T Identity +NM_001013653.3:c.220C>T NP_001013675.1:p.Arg74Cys NC_000009.12:137169723:G:A p.(Arg74Cys) NC_000009.12:137169723:G:A p.(Arg74Cys) NC_000009.12:137169723:G:A Identity +NM_001172779.2:c.809C>T NP_001166250.1:p.Ala270Val NC_000003.12:169796843:G:A p.(Ala270Val) NC_000003.12:169796843:G:A p.(Ala270Val) NC_000003.12:169796843:G:A Identity +NM_001365758.1:c.992A>G NP_001352687.1:p.Tyr331Cys NC_000017.11:56449174:A:G p.(Tyr331Cys) NC_000017.11:56449174:A:G p.(Tyr331Cys) NC_000017.11:56449174:A:G Identity +NM_001303255.3:c.1472T>G NP_001290184.1:p.Leu491Arg NC_000017.11:64860027:A:C p.(Leu491Arg) NC_000017.11:64860027:A:C p.(Leu491Arg) NC_000017.11:64860027:A:C Identity +NM_033413.4:c.584G>A NP_219481.1:p.Cys195Tyr NC_000017.11:47836463:G:A p.(Cys195Tyr) NC_000017.11:47836463:G:A p.(Cys195Tyr) NC_000017.11:47836463:G:A Identity +NM_017768.5:c.623A>G NP_060238.3:p.Glu208Gly NC_000001.11:70181123:T:C p.(Glu208Gly) NC_000001.11:70181123:T:C p.(Glu208Gly) NC_000001.11:70181123:T:C Identity +NM_001284400.3:c.10G>A NP_001271329.1:p.Glu4Lys NC_000015.10:99255966:G:A p.(Glu4Lys) NC_000015.10:99255966:G:A p.(Glu4Lys) NC_000015.10:99255966:G:A Identity +NM_001161575.2:c.200G>A NP_001155047.1:p.Ser67Asn NC_000016.10:67350275:G:A p.(Ser67Asn) NC_000016.10:67350275:G:A p.(Ser67Asn) NC_000016.10:67350275:G:A Identity +NM_001128922.2:c.322C>T NP_001122394.1:p.Arg108Trp NC_000011.10:76661270:G:A p.(Arg108Trp) NC_000011.10:76661270:G:A p.(Arg108Trp) NC_000011.10:76661270:G:A Identity +NM_001172779.2:c.859T>C NP_001166250.1:p.Cys287Arg NC_000003.12:169796793:A:G p.(Cys287Arg) NC_000003.12:169796793:A:G p.(Cys287Arg) NC_000003.12:169796793:A:G Identity +NM_001321350.2:c.101C>A NP_001308279.1:p.Ala34Asp NC_000017.11:32021492:C:A p.(Ala34Asp) NC_000017.11:32021492:C:A p.(Ala34Asp) NC_000017.11:32021492:C:A Identity +NM_006369.5:c.973C>T NP_006360.3:p.Arg325Trp NC_000001.11:46285883:G:A p.(Arg325Trp) NC_000001.11:46285883:G:A p.(Arg325Trp) NC_000001.11:46285883:G:A Identity +NM_144999.4:c.688C>T NP_659436.1:p.Arg230Trp NC_000017.11:82026924:C:T p.(Arg230Trp) NC_000017.11:82026924:C:T p.(Arg230Trp) NC_000017.11:82026924:C:T Identity +NM_144999.4:c.730C>T NP_659436.1:p.Leu244Phe NC_000017.11:82026966:C:T p.(Leu244Phe) NC_000017.11:82026966:C:T p.(Leu244Phe) NC_000017.11:82026966:C:T Identity +NM_001258419.2:c.102A>T NP_001245348.1:p.Gln34His NC_000011.10:40116190:T:A p.(Gln34His) NC_000011.10:40116190:T:A p.(Gln34His) NC_000011.10:40116190:T:A Identity +NM_198075.4:c.961A>C NP_932341.1:p.Ser321Arg NC_000011.10:551814:A:C p.(Ser321Arg) NC_000011.10:551814:A:C p.(Ser321Arg) NC_000011.10:551814:A:C Identity +NM_018509.4:c.421G>A NP_060979.2:p.Ala141Thr NC_000017.11:50392405:C:T p.(Ala141Thr) NC_000017.11:50392405:C:T p.(Ala141Thr) NC_000017.11:50392405:C:T Identity +NM_001127244.2:c.1950C>G NP_001120716.1:p.His650Gln NC_000009.12:128909113:C:G p.(His650Gln) NC_000009.12:128909113:C:G p.(His650Gln) NC_000009.12:128909113:C:G Identity +NM_020710.3:c.988C>T NP_065761.1:p.Arg330Trp NC_000001.11:3786937:G:A p.(Arg330Trp) NC_000001.11:3786937:G:A p.(Arg330Trp) NC_000001.11:3786937:G:A Identity +NM_001258419.2:c.474C>A NP_001245348.1:p.Asn158Lys NC_000011.10:40115818:G:T p.(Asn158Lys) NC_000011.10:40115818:G:T p.(Asn158Lys) NC_000011.10:40115818:G:T Identity +NM_001258419.2:c.494C>T NP_001245348.1:p.Ser165Phe NC_000011.10:40115798:G:A p.(Ser165Phe) NC_000011.10:40115798:G:A p.(Ser165Phe) NC_000011.10:40115798:G:A Identity +NM_032270.5:c.1723G>C NP_115646.3:p.Asp575His NC_000001.11:89714292:G:C p.(Asp575His) NC_000001.11:89714292:G:C p.(Asp575His) NC_000001.11:89714292:G:C Identity +NM_001258419.2:c.1810C>T NP_001245348.1:p.Pro604Ser NC_000011.10:40114482:G:A p.(Pro604Ser) NC_000011.10:40114482:G:A p.(Pro604Ser) NC_000011.10:40114482:G:A Identity +NM_001258419.2:c.823G>A NP_001245348.1:p.Ala275Thr NC_000011.10:40115469:C:T p.(Ala275Thr) NC_000011.10:40115469:C:T p.(Ala275Thr) NC_000011.10:40115469:C:T Identity +NM_020690.6:c.1373T>C NP_065741.3:p.Ile458Thr NC_000005.10:140458754:T:C p.(Ile458Thr) NC_000005.10:140458754:T:C p.(Ile458Thr) NC_000005.10:140458754:T:C Identity +NM_001134369.2:c.713A>G NP_001127841.1:p.Asn238Ser NC_000003.12:37065904:T:C p.(Asn238Ser) NC_000003.12:37065904:T:C p.(Asn238Ser) NC_000003.12:37065904:T:C Identity +NM_024652.6:c.3037A>G NP_078928.3:p.Thr1013Ala NC_000015.10:101046053:A:G p.(Thr1013Ala) NC_000015.10:101046053:A:G p.(Thr1013Ala) NC_000015.10:101046053:A:G Identity +NM_001324188.2:c.858G>A NP_001311117.1:p.Met286Ile NC_000003.12:3845498:G:A p.(Met286Ile) NC_000003.12:3845498:G:A p.(Met286Ile) NC_000003.12:3845498:G:A Identity +NM_020690.6:c.7636A>G NP_065741.3:p.Lys2546Glu NC_000005.10:140542237:A:G p.(Lys2546Glu) NC_000005.10:140542237:A:G p.(Lys2546Glu) NC_000005.10:140542237:A:G Identity +NM_001137550.2:c.907A>G NP_001131022.1:p.Met303Val NC_000002.12:237753347:A:G p.(Met303Val) NC_000002.12:237753347:A:G p.(Met303Val) NC_000002.12:237753347:A:G Identity +NM_198578.4:c.4982C>A NP_940980.4:p.Pro1661Gln NC_000012.12:40320141:C:A p.(Pro1661Gln) NC_000012.12:40320141:C:A p.(Pro1661Gln) NC_000012.12:40320141:C:A Identity +NM_001039029.3:c.409C>T NP_001034118.1:p.Arg137Trp NC_000012.12:1831275:C:T p.(Arg137Trp) NC_000012.12:1831275:C:T p.(Arg137Trp) NC_000012.12:1831275:C:T Identity +NM_018385.3:c.82C>T NP_060855.2:p.Arg28Cys NC_000003.12:194672080:G:A p.(Arg28Cys) NC_000003.12:194672080:G:A p.(Arg28Cys) NC_000003.12:194672080:G:A Identity +NM_178510.2:c.2173A>G NP_848605.1:p.Ser725Gly NC_000011.10:113400141:A:G p.(Ser725Gly) NC_000011.10:113400141:A:G p.(Ser725Gly) NC_000011.10:113400141:A:G Identity +NM_001278443.2:c.972G>T NP_001265372.2:p.Trp324Cys NC_000019.10:17283768:G:T p.(Trp324Cys) NC_000019.10:17283768:G:T p.(Trp324Cys) NC_000019.10:17283768:G:T Identity +NM_178011.5:c.23T>C NP_821079.3:p.Leu8Pro NC_000010.11:66926938:T:C p.(Leu8Pro) NC_000010.11:66926938:T:C p.(Leu8Pro) NC_000010.11:66926938:T:C Identity +NM_018385.3:c.840C>G NP_060855.2:p.His280Gln NC_000003.12:194653061:G:C p.(His280Gln) NC_000003.12:194653061:G:C p.(His280Gln) NC_000003.12:194653061:G:C Identity +NM_000595.4:c.422A>C NP_000586.2:p.Gln141Pro NC_000006.12:31573496:A:C p.(Gln141Pro) NC_000006.12:31573496:A:C p.(Gln141Pro) NC_000006.12:31573496:A:C Identity +NM_173800.5:c.103G>A NP_776161.3:p.Ala35Thr NC_000005.10:115962719:G:A p.(Ala35Thr) NC_000005.10:115962719:G:A p.(Ala35Thr) NC_000005.10:115962719:G:A Identity +NM_001270987.2:c.736C>T NP_001257916.1:p.Arg246Cys NC_000012.12:6388816:C:T p.(Arg246Cys) NC_000012.12:6388816:C:T p.(Arg246Cys) NC_000012.12:6388816:C:T Identity +NM_001134479.2:c.223G>A NP_001127951.1:p.Val75Ile NC_000001.11:89933290:G:A p.(Val75Ile) NC_000001.11:89933290:G:A p.(Val75Ile) NC_000001.11:89933290:G:A Identity +NM_001268284.3:c.848T>C NP_001255213.1:p.Leu283Pro NC_000019.10:7899369:T:C p.(Leu283Pro) NC_000019.10:7899369:T:C p.(Leu283Pro) NC_000019.10:7899369:T:C Identity +NM_001371380.1:c.506G>A NP_001358309.1:p.Arg169Gln NC_000002.12:99284471:C:T p.(Arg169Gln) NC_000002.12:99284471:C:T p.(Arg169Gln) NC_000002.12:99284471:C:T Identity +NM_001164840.3:c.176C>G NP_001158312.1:p.Ala59Gly NC_000006.12:5216648:G:C p.(Ala59Gly) NC_000006.12:5216648:G:C p.(Ala59Gly) NC_000006.12:5216648:G:C Identity +NM_015114.3:c.1117G>A NP_055929.1:p.Val373Ile NC_000012.12:132747944:C:T p.(Val373Ile) NC_000012.12:132747944:C:T p.(Val373Ile) NC_000012.12:132747944:C:T Identity +NM_173800.5:c.266C>A NP_776161.3:p.Pro89His NC_000005.10:115962882:C:A p.(Pro89His) NC_000005.10:115962882:C:A p.(Pro89His) NC_000005.10:115962882:C:A Identity +NM_001353334.2:c.709C>G NP_001340263.1:p.Leu237Val NC_000006.12:31710087:C:G p.(Leu237Val) NC_000006.12:31710087:C:G p.(Leu237Val) NC_000006.12:31710087:C:G Identity +NM_001317721.2:c.1342A>G NP_001304650.1:p.Thr448Ala NC_000007.14:102472798:A:G p.(Thr448Ala) NC_000007.14:102472798:A:G p.(Thr448Ala) NC_000007.14:102472798:A:G Identity +NM_018385.3:c.920A>T NP_060855.2:p.Tyr307Phe NC_000003.12:194652981:T:A p.(Tyr307Phe) NC_000003.12:194652981:T:A p.(Tyr307Phe) NC_000003.12:194652981:T:A Identity +NM_001260489.2:c.1289A>G NP_001247418.2:p.Asp430Gly NC_000019.10:35267312:A:G p.(Asp430Gly) NC_000019.10:35267312:A:G p.(Asp430Gly) NC_000019.10:35267312:A:G Identity +NM_000081.4:c.9161C>T NP_000072.2:p.Ser3054Leu NC_000001.11:235728076:G:A p.(Ser3054Leu) NC_000001.11:235728076:G:A p.(Ser3054Leu) NC_000001.11:235728076:G:A Identity +NM_001163941.2:c.1708G>T NP_001157413.1:p.Ala570Ser NC_000007.14:20681504:G:T p.(Ala570Ser) NC_000007.14:20681504:G:T p.(Ala570Ser) NC_000007.14:20681504:G:T Identity +NM_001282564.2:c.877C>T NP_001269493.1:p.Leu293Phe NC_000001.11:25489233:C:T p.(Leu293Phe) NC_000001.11:25489233:C:T p.(Leu293Phe) NC_000001.11:25489233:C:T Identity +NM_001040158.2:c.844G>A NP_001035248.1:p.Ala282Thr NC_000005.10:135343365:C:T p.(Ala282Thr) NC_000005.10:135343365:C:T p.(Ala282Thr) NC_000005.10:135343365:C:T Identity +NM_018649.3:c.433G>A NP_061119.1:p.Gly145Arg NC_000010.11:70091909:G:A p.(Gly145Arg) NC_000010.11:70091909:G:A p.(Gly145Arg) NC_000010.11:70091909:G:A Identity +NM_001135943.2:c.1337A>G NP_001129415.1:p.Glu446Gly NC_000011.10:47281620:A:G p.(Glu446Gly) NC_000011.10:47281620:A:G p.(Glu446Gly) NC_000011.10:47281620:A:G Identity +NM_001011543.3:c.878G>A NP_001011543.3:p.Arg293Gln NC_000023.11:152134742:C:T p.(Arg293Gln) NC_000023.11:152134742:C:T p.(Arg293Gln) NC_000023.11:152134742:C:T Identity +NM_003695.3:c.301C>A NP_003686.1:p.Pro101Thr NC_000008.11:142785306:G:T p.(Pro101Thr) NC_000008.11:142785306:G:T p.(Pro101Thr) NC_000008.11:142785306:G:T Identity +NM_001130478.2:c.355T>G NP_001123950.1:p.Leu119Val NC_000008.11:143158380:A:C p.(Leu119Val) NC_000008.11:143158380:A:C p.(Leu119Val) NC_000008.11:143158380:A:C Identity +NM_175735.4:c.170G>A NP_783862.2:p.Ser57Asn NC_000002.12:99246693:C:T p.(Ser57Asn) NC_000002.12:99246693:C:T p.(Ser57Asn) NC_000002.12:99246693:C:T Identity +NM_001033086.1:c.1072A>G NP_001028258.1:p.Asn358Asp NC_000020.11:15987076:A:G ERR:Data provider error: ValueError: Transcript NM_001033086.1 not found ERR:Data provider error: ValueError: Transcript NM_001033086.1 not found ERR:AlignmentMapper(tx_ac=NM_001033086.1, alt_ac=NM_001033086.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001033086.1, alt_ac=NM_001033086.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001033086.1 not found +NM_001376574.1:c.2366G>A NP_001363503.1:p.Gly789Glu NC_000011.10:47285148:G:A p.(Gly789Glu) NC_000011.10:47285148:G:A p.(Gly789Glu) NC_000011.10:47285148:G:A Identity +NM_001135943.2:c.2350C>T NP_001129415.1:p.Arg784Trp NC_000011.10:47285517:C:T p.(Arg784Trp) NC_000011.10:47285517:C:T p.(Arg784Trp) NC_000011.10:47285517:C:T Identity +NM_175735.4:c.625A>G NP_783862.2:p.Arg209Gly NC_000002.12:99242377:T:C p.(Arg209Gly) NC_000002.12:99242377:T:C p.(Arg209Gly) NC_000002.12:99242377:T:C Identity +NM_001031749.3:c.503G>A NP_001026919.2:p.Gly168Asp NC_000019.10:43798468:C:T p.(Gly168Asp) NC_000019.10:43798468:C:T p.(Gly168Asp) NC_000019.10:43798468:C:T Identity +NM_153374.3:c.223G>A NP_699205.1:p.Val75Ile NC_000015.10:51737399:C:T p.(Val75Ile) NC_000015.10:51737399:C:T p.(Val75Ile) NC_000015.10:51737399:C:T Identity +NM_001085437.3:c.1047G>C NP_001078906.3:p.Gln349His NC_000002.12:240888495:C:G p.(Gln349His) NC_000002.12:240888495:C:G p.(Gln349His) NC_000002.12:240888495:C:G Identity +NM_001142782.2:c.140G>A NP_001136254.1:p.Arg47Gln NC_000001.11:113391172:G:A p.(Arg47Gln) NC_000001.11:113391172:G:A p.(Arg47Gln) NC_000001.11:113391172:G:A Identity +NM_002371.4:c.226G>C NP_002362.1:p.Gly76Arg NC_000002.12:95048090:G:C p.(Gly76Arg) NC_000002.12:95048090:G:C p.(Gly76Arg) NC_000002.12:95048090:G:C Identity +NM_138446.2:c.166A>G NP_612455.1:p.Asn56Asp NC_000007.14:23299517:A:G p.(Asn56Asp) NC_000007.14:23299517:A:G p.(Asn56Asp) NC_000007.14:23299517:A:G Identity +NM_018202.6:c.989A>G NP_060672.2:p.Asn330Ser NC_000001.11:25458726:A:G p.(Asn330Ser) NC_000001.11:25458726:A:G p.(Asn330Ser) NC_000001.11:25458726:A:G Identity +NM_001163941.2:c.1787A>C NP_001157413.1:p.Lys596Thr NC_000007.14:20681583:A:C p.(Lys596Thr) NC_000007.14:20681583:A:C p.(Lys596Thr) NC_000007.14:20681583:A:C Identity +NM_005362.4:c.349G>A NP_005353.1:p.Val117Ile NC_000023.11:152701180:G:A p.(Val117Ile) NC_000023.11:152701180:G:A p.(Val117Ile) NC_000023.11:152701180:G:A Identity +NM_001033057.2:c.2699C>T NP_001028229.1:p.Ala900Val NC_000003.12:65381878:G:A p.(Ala900Val) NC_000003.12:65381878:G:A p.(Ala900Val) NC_000003.12:65381878:G:A Identity +NM_001033057.2:c.2786G>A NP_001028229.1:p.Arg929His NC_000003.12:65379469:C:T p.(Arg929His) NC_000003.12:65379469:C:T p.(Arg929His) NC_000003.12:65379469:C:T Identity +NM_001347990.2:c.1351A>G NP_001334919.1:p.Arg451Gly NC_000009.12:70143765:A:G p.(Arg451Gly) NC_000009.12:70143765:A:G p.(Arg451Gly) NC_000009.12:70143765:A:G Identity +NM_014757.5:c.2312C>T NP_055572.1:p.Pro771Leu NC_000005.10:179774137:C:T p.(Pro771Leu) NC_000005.10:179774137:C:T p.(Pro771Leu) NC_000005.10:179774137:C:T Identity +NM_001394062.1:c.3028C>T NP_001380991.1:p.Arg1010Cys NC_000001.11:39310355:C:T p.(Arg1010Cys) NC_000001.11:39310355:C:T p.(Arg1010Cys) NC_000001.11:39310355:C:T Identity +NM_001040158.2:c.1025C>A NP_001035248.1:p.Ser342Tyr NC_000005.10:135335066:G:T p.(Ser342Tyr) NC_000005.10:135335066:G:T p.(Ser342Tyr) NC_000005.10:135335066:G:T Identity +NM_001135943.2:c.107G>A NP_001129415.1:p.Arg36Gln NC_000011.10:47274606:G:A p.(Arg36Gln) NC_000011.10:47274606:G:A p.(Arg36Gln) NC_000011.10:47274606:G:A Identity +NM_001017405.3:c.454G>A NP_001017405.1:p.Glu152Lys NC_000004.12:1315597:G:A p.(Glu152Lys) NC_000004.12:1315597:G:A p.(Glu152Lys) NC_000004.12:1315597:G:A Identity +NM_002372.4:c.2288C>G NP_002363.2:p.Ser763Cys NC_000005.10:109819846:C:G p.(Ser763Cys) NC_000005.10:109819846:C:G p.(Ser763Cys) NC_000005.10:109819846:C:G Identity +NM_001256182.2:c.6191C>G NP_001243111.1:p.Ser2064Cys NC_000016.10:89280350:G:C p.(Ser2064Cys) NC_000016.10:89280350:G:C p.(Ser2064Cys) NC_000016.10:89280350:G:C Identity +NM_001146221.5:c.452T>C NP_001139693.1:p.Ile151Thr NC_000012.12:27763308:A:G p.(Ile151Thr) NC_000012.12:27763308:A:G p.(Ile151Thr) NC_000012.12:27763308:A:G Identity +NM_001411089.1:c.6428T>G NP_001398018.1:p.Leu2143Arg NC_000015.10:43527186:T:G p.(Leu2143Arg) NC_000015.10:43527186:T:G p.(Leu2143Arg) NC_000015.10:43527186:T:G Identity +NM_001363910.2:c.3787G>C NP_001350839.1:p.Glu1263Gln NC_000002.12:209695968:G:C p.(Glu1263Gln) NC_000002.12:209695968:G:C p.(Glu1263Gln) NC_000002.12:209695968:G:C Identity +NM_005462.5:c.2750G>C NP_005453.2:p.Arg917Pro NC_000023.11:141908153:G:C p.(Arg917Pro) NC_000023.11:141908153:G:C p.(Arg917Pro) NC_000023.11:141908153:G:C Identity +NM_020932.3:c.59C>T NP_065983.1:p.Ala20Val NC_000023.11:76427988:C:T p.(Ala20Val) NC_000023.11:76427988:C:T p.(Ala20Val) NC_000023.11:76427988:C:T Identity +NM_001301128.2:c.4315G>A NP_001288057.1:p.Ala1439Thr NC_000007.14:78019325:C:T p.(Ala1439Thr) NC_000007.14:78019325:C:T p.(Ala1439Thr) NC_000007.14:78019325:C:T Identity +NM_001146221.5:c.739C>T NP_001139693.1:p.Pro247Ser NC_000012.12:27763021:G:A p.(Pro247Ser) NC_000012.12:27763021:G:A p.(Pro247Ser) NC_000012.12:27763021:G:A Identity +NM_001411089.1:c.2291C>T NP_001398018.1:p.Ser764Phe NC_000015.10:43523049:C:T p.(Ser764Phe) NC_000015.10:43523049:C:T p.(Ser764Phe) NC_000015.10:43523049:C:T Identity +NM_014757.5:c.2532G>T NP_055572.1:p.Met844Ile NC_000005.10:179774357:G:T p.(Met844Ile) NC_000005.10:179774357:G:T p.(Met844Ile) NC_000005.10:179774357:G:T Identity +NM_005921.2:c.3434C>G NP_005912.1:p.Thr1145Arg NC_000005.10:56882633:C:G p.(Thr1145Arg) NC_000005.10:56882633:C:G p.(Thr1145Arg) NC_000005.10:56882633:C:G Identity +NM_002446.4:c.2096G>T NP_002437.2:p.Gly699Val NC_000019.10:40213774:G:T p.(Gly699Val) NC_000019.10:40213774:G:T p.(Gly699Val) NC_000019.10:40213774:G:T Identity +NM_001001671.4:c.806G>A NP_001001671.3:p.Arg269Gln NC_000023.11:19460066:C:T p.(Arg269Gln) NC_000023.11:19460066:C:T p.(Arg269Gln) NC_000023.11:19460066:C:T Identity +NM_032427.4:c.368C>G NP_115803.1:p.Ala123Gly NC_000011.10:96341527:G:C p.(Ala123Gly) NC_000011.10:96341527:G:C p.(Ala123Gly) NC_000011.10:96341527:G:C Identity +NM_001177465.3:c.386G>T NP_001170936.1:p.Gly129Val NC_000023.11:150470033:G:T p.(Gly129Val) NC_000023.11:150470033:G:T p.(Gly129Val) NC_000023.11:150470033:G:T Identity +NM_001289010.2:c.254C>T NP_001275939.1:p.Ala85Val NC_000001.11:25618050:C:T p.(Ala85Val) NC_000001.11:25618050:C:T p.(Ala85Val) NC_000001.11:25618050:C:T Identity +NM_001292038.2:c.1129T>A NP_001278967.1:p.Ser377Thr NC_000004.12:6598230:T:A p.(Ser377Thr) NC_000004.12:6598230:T:A p.(Ser377Thr) NC_000004.12:6598230:T:A Identity +NM_001286771.3:c.724G>C NP_001273700.1:p.Glu242Gln NC_000004.12:73154050:C:G p.(Glu242Gln) NC_000004.12:73154050:C:G p.(Glu242Gln) NC_000004.12:73154050:C:G Identity +NM_001100875.3:c.261A>G NP_001094345.1:p.Ile87Met NC_000017.11:62759955:T:C p.(Ile87Met) NC_000017.11:62759955:T:C p.(Ile87Met) NC_000017.11:62759955:T:C Identity +NM_001005415.2:c.373T>C NP_001005415.1:p.Trp125Arg NC_000019.10:8430657:T:C p.(Trp125Arg) NC_000019.10:8430657:T:C p.(Trp125Arg) NC_000019.10:8430657:T:C Identity +NM_001018044.3:c.1717C>T NP_001018054.1:p.Arg573Cys NC_000002.12:134986815:G:A p.(Arg573Cys) NC_000002.12:134986815:G:A p.(Arg573Cys) NC_000002.12:134986815:G:A Identity +NM_001363613.2:c.376T>A NP_001350542.1:p.Tyr126Asn NC_000012.12:12330844:A:T p.(Tyr126Asn) NC_000012.12:12330844:A:T p.(Tyr126Asn) NC_000012.12:12330844:A:T Identity +NM_001411089.1:c.6206A>G NP_001398018.1:p.Asn2069Ser NC_000015.10:43526964:A:G p.(Asn2069Ser) NC_000015.10:43526964:A:G p.(Asn2069Ser) NC_000015.10:43526964:A:G Identity +NM_001307990.2:c.7C>G NP_001294919.1:p.Leu3Val NC_000011.10:64803142:G:C p.(Leu3Val) NC_000011.10:64803142:G:C p.(Leu3Val) NC_000011.10:64803142:G:C Identity +NM_001198608.3:c.766C>T NP_001185537.1:p.His256Tyr NC_000006.12:136377805:G:A p.(His256Tyr) NC_000006.12:136377805:G:A p.(His256Tyr) NC_000006.12:136377805:G:A Identity +NM_001286365.2:c.693G>C NP_001273294.1:p.Trp231Cys NC_000001.11:36173431:G:C p.(Trp231Cys) NC_000001.11:36173431:G:C p.(Trp231Cys) NC_000001.11:36173431:G:C Identity +NM_001168465.2:c.788G>A NP_001161937.1:p.Arg263Gln NC_000023.11:20044454:C:T p.(Arg263Gln) NC_000023.11:20044454:C:T p.(Arg263Gln) NC_000023.11:20044454:C:T Identity +NM_001039580.2:c.1126A>G NP_001034669.1:p.Met376Val NC_000004.12:155355879:T:C p.(Met376Val) NC_000004.12:155355879:T:C p.(Met376Val) NC_000004.12:155355879:T:C Identity +NM_001303252.3:c.385C>T NP_001290181.1:p.Arg129Trp NC_000022.11:50257122:G:A p.(Arg129Trp) NC_000022.11:50257122:G:A p.(Arg129Trp) NC_000022.11:50257122:G:A Identity +NM_001284230.2:c.974T>C NP_001271159.1:p.Met325Thr NC_000014.9:70761028:A:G p.(Met325Thr) NC_000014.9:70761028:A:G p.(Met325Thr) NC_000014.9:70761028:A:G Identity +NM_002749.4:c.1892C>T NP_002740.2:p.Pro631Leu NC_000017.11:19382194:C:T p.(Pro631Leu) NC_000017.11:19382194:C:T p.(Pro631Leu) NC_000017.11:19382194:C:T Identity +NM_001286771.3:c.6220G>C NP_001273700.1:p.Ala2074Pro NC_000004.12:73091068:C:G p.(Ala2074Pro) NC_000004.12:73091068:C:G p.(Ala2074Pro) NC_000004.12:73091068:C:G Identity +NM_001128918.3:c.2199A>G NP_001122390.2:p.Ile733Met NC_000014.9:103503163:A:G p.(Ile733Met) NC_000014.9:103503163:A:G p.(Ile733Met) NC_000014.9:103503163:A:G Identity +NM_004990.4:c.1229A>T NP_004981.2:p.Tyr410Phe NC_000012.12:57500457:A:T p.(Tyr410Phe) NC_000012.12:57500457:A:T p.(Tyr410Phe) NC_000012.12:57500457:A:T Identity +NM_005923.4:c.1651A>G NP_005914.1:p.Lys551Glu NC_000006.12:136656335:T:C p.(Lys551Glu) NC_000006.12:136656335:T:C p.(Lys551Glu) NC_000006.12:136656335:T:C Identity +NM_001297609.2:c.16C>G NP_001284538.1:p.Pro6Ala NC_000001.11:27366581:G:C p.(Pro6Ala) NC_000001.11:27366581:G:C p.(Pro6Ala) NC_000001.11:27366581:G:C Identity +NM_002749.4:c.1105C>T NP_002740.2:p.Arg369Cys NC_000017.11:19381313:C:T p.(Arg369Cys) NC_000017.11:19381313:C:T p.(Arg369Cys) NC_000017.11:19381313:C:T Identity +NM_001166373.2:c.324G>C NP_001159845.1:p.Gln108His NC_000004.12:163585847:C:G p.(Gln108His) NC_000004.12:163585847:C:G p.(Gln108His) NC_000004.12:163585847:C:G Identity +NM_001100875.3:c.2002T>C NP_001094345.1:p.Ser668Pro NC_000017.11:62725039:A:G p.(Ser668Pro) NC_000017.11:62725039:A:G p.(Ser668Pro) NC_000017.11:62725039:A:G Identity +NM_001282805.2:c.488G>A NP_001269734.1:p.Arg163Gln NC_000002.12:159745910:G:A p.(Arg163Gln) NC_000002.12:159745910:G:A p.(Arg163Gln) NC_000002.12:159745910:G:A Identity +NM_138396.6:c.79G>A NP_612405.2:p.Glu27Lys NC_000012.12:57755606:G:A p.(Glu27Lys) NC_000012.12:57755606:G:A p.(Glu27Lys) NC_000012.12:57755606:G:A Identity +NM_002356.7:c.851C>T NP_002347.5:p.Ala284Val NC_000006.12:113860430:C:T p.(Ala284Val) NC_000006.12:113860430:C:T p.(Ala284Val) NC_000006.12:113860430:C:T Identity +NM_006770.4:c.1049G>A NP_006761.1:p.Ser350Asn NC_000002.12:118982395:G:A p.(Ser350Asn) NC_000002.12:118982395:G:A p.(Ser350Asn) NC_000002.12:118982395:G:A Identity +NM_001184998.2:c.578G>A NP_001171927.1:p.Cys193Tyr NC_000016.10:15635908:C:T p.(Cys193Tyr) NC_000016.10:15635908:C:T p.(Cys193Tyr) NC_000016.10:15635908:C:T Identity +NM_001319245.2:c.5266G>C NP_001306174.1:p.Val1756Leu NC_000001.11:46035937:G:C p.(Val1756Leu) NC_000001.11:46035937:G:C p.(Val1756Leu) NC_000001.11:46035937:G:C Identity +NM_001393501.1:c.3502T>G NP_001380430.1:p.Cys1168Gly NC_000019.10:18147593:T:G p.(Cys1168Gly) NC_000019.10:18147593:T:G p.(Cys1168Gly) NC_000019.10:18147593:T:G Identity +NM_002378.4:c.109C>A NP_002369.2:p.Pro37Thr NC_000019.10:3784850:G:T p.(Pro37Thr) NC_000019.10:3784850:G:T p.(Pro37Thr) NC_000019.10:3784850:G:T Identity +NM_001206491.2:c.869C>T NP_001193420.1:p.Pro290Leu NC_000020.11:3865815:C:T p.(Pro290Leu) NC_000020.11:3865815:C:T p.(Pro290Leu) NC_000020.11:3865815:C:T Identity +NM_001293273.2:c.922G>C NP_001280202.1:p.Glu308Gln NC_000003.12:183039129:C:G p.(Glu308Gln) NC_000003.12:183039129:C:G p.(Glu308Gln) NC_000003.12:183039129:C:G Identity +NM_032601.4:c.496T>A NP_115990.3:p.Cys166Ser NC_000002.12:71110004:A:T p.(Cys166Ser) NC_000002.12:71110004:A:T p.(Cys166Ser) NC_000002.12:71110004:A:T Identity +NM_001393535.1:c.614C>T NP_001380464.1:p.Ala205Val NC_000005.10:95283961:G:A p.(Ala205Val) NC_000005.10:95283961:G:A p.(Ala205Val) NC_000005.10:95283961:G:A Identity +NM_144994.8:c.872G>C NP_659431.5:p.Arg291Pro NC_000002.12:96839594:C:G p.(Arg291Pro) NC_000002.12:96839594:C:G p.(Arg291Pro) NC_000002.12:96839594:C:G Identity +NM_001085377.2:c.1955T>A NP_001078846.2:p.Leu652His NC_000005.10:113068153:A:T p.(Leu652His) NC_000005.10:113068153:A:T p.(Leu652His) NC_000005.10:113068153:A:T Identity +NM_001040179.2:c.461A>G NP_001035269.1:p.Asn154Ser NC_000006.12:99943074:T:C p.(Asn154Ser) NC_000006.12:99943074:T:C p.(Asn154Ser) NC_000006.12:99943074:T:C Identity +NM_023009.7:c.335G>A NP_075385.1:p.Gly112Asp NC_000001.11:32334849:C:T p.(Gly112Asp) NC_000001.11:32334849:C:T p.(Gly112Asp) NC_000001.11:32334849:C:T Identity +NM_001184998.2:c.15C>G NP_001171927.1:p.Asn5Lys NC_000016.10:15639218:G:C p.(Asn5Lys) NC_000016.10:15639218:G:C p.(Asn5Lys) NC_000016.10:15639218:G:C Identity +NM_001184998.2:c.302G>T NP_001171927.1:p.Cys101Phe NC_000016.10:15636184:C:A p.(Cys101Phe) NC_000016.10:15636184:C:A p.(Cys101Phe) NC_000016.10:15636184:C:A Identity +NM_001184998.2:c.4739C>T NP_001171927.1:p.Ser1580Leu NC_000016.10:15600501:G:A p.(Ser1580Leu) NC_000016.10:15600501:G:A p.(Ser1580Leu) NC_000016.10:15600501:G:A Identity +NM_001168335.2:c.550C>T NP_001161807.1:p.Leu184Phe NC_000018.10:50917427:C:T p.(Leu184Phe) NC_000018.10:50917427:C:T p.(Leu184Phe) NC_000018.10:50917427:C:T Identity +NM_001195098.1:c.119C>T NP_001182027.1:p.Ser40Leu NC_000003.12:15724493:G:A p.(Ser40Leu) NC_000003.12:15724493:G:A p.(Ser40Leu) NC_000003.12:15724493:G:A Identity +NM_018019.3:c.214A>G NP_060489.1:p.Ile72Val NC_000017.11:17477254:A:G p.(Ile72Val) NC_000017.11:17477254:A:G p.(Ile72Val) NC_000017.11:17477254:A:G Identity +NM_001409.4:c.1186G>A NP_001400.3:p.Gly396Ser NC_000001.11:3510830:C:T p.(Gly396Ser) NC_000001.11:3510830:C:T p.(Gly396Ser) NC_000001.11:3510830:C:T Identity +NM_001253693.2:c.146C>G NP_001240622.1:p.Pro49Arg NC_000001.11:85045214:G:C p.(Pro49Arg) NC_000001.11:85045214:G:C p.(Pro49Arg) NC_000001.11:85045214:G:C Identity +NM_001385001.1:c.2101G>C NP_001371930.1:p.Val701Leu NC_000015.10:94440190:G:C p.(Val701Leu) NC_000015.10:94440190:G:C p.(Val701Leu) NC_000015.10:94440190:G:C Identity +NM_004774.4:c.2827C>G NP_004765.2:p.Pro943Ala NC_000017.11:39409393:G:C p.(Pro943Ala) NC_000017.11:39409393:G:C p.(Pro943Ala) NC_000017.11:39409393:G:C Identity +NM_004774.4:c.3625A>G NP_004765.2:p.Met1209Val NC_000017.11:39408595:T:C p.(Met1209Val) NC_000017.11:39408595:T:C p.(Met1209Val) NC_000017.11:39408595:T:C Identity +NM_005121.3:c.455A>G NP_005112.2:p.Lys152Arg NC_000017.11:62052551:T:C p.(Lys152Arg) NC_000017.11:62052551:T:C p.(Lys152Arg) NC_000017.11:62052551:T:C Identity +NM_001127350.2:c.44C>T NP_001120822.1:p.Thr15Ile NC_000001.11:28330705:C:T p.(Thr15Ile) NC_000001.11:28330705:C:T p.(Thr15Ile) NC_000001.11:28330705:C:T Identity +NM_001079518.2:c.2819C>T NP_001072986.1:p.Ser940Leu NC_000017.11:40019640:G:A p.(Ser940Leu) NC_000017.11:40019640:G:A p.(Ser940Leu) NC_000017.11:40019640:G:A Identity +NM_001385028.1:c.1918G>C NP_001371957.1:p.Glu640Gln NC_000015.10:65922376:C:G p.(Glu640Gln) NC_000015.10:65922376:C:G p.(Glu640Gln) NC_000015.10:65922376:C:G Identity +NM_001385028.1:c.3418T>C NP_001371957.1:p.Ser1140Pro NC_000015.10:65897938:A:G p.(Ser1140Pro) NC_000015.10:65897938:A:G p.(Ser1140Pro) NC_000015.10:65897938:A:G Identity +NM_001409.4:c.3289T>A NP_001400.3:p.Cys1097Ser NC_000001.11:3498433:A:T p.(Cys1097Ser) NC_000001.11:3498433:A:T p.(Cys1097Ser) NC_000001.11:3498433:A:T Identity +NM_152513.4:c.2492T>A NP_689726.3:p.Val831Glu NC_000022.11:41770908:T:A p.(Val831Glu) NC_000022.11:41770908:T:A p.(Val831Glu) NC_000022.11:41770908:T:A Identity +NM_001164443.1:c.1192G>A NP_001157915.1:p.Asp398Asn NC_000005.10:75193416:C:T p.(Asp398Asn) NC_000005.10:75193416:C:T p.(Asp398Asn) NC_000005.10:75193416:C:T Identity +NM_001123364.3:c.651T>G NP_001116836.1:p.Ile217Met NC_000006.12:110299056:A:C p.(Ile217Met) NC_000006.12:110299056:A:C p.(Ile217Met) NC_000006.12:110299056:A:C Identity +NM_001879.6:c.1124A>G NP_001870.3:p.His375Arg NC_000003.12:187243587:T:C p.(His375Arg) NC_000003.12:187243587:T:C p.(His375Arg) NC_000003.12:187243587:T:C Identity +NM_001164664.2:c.5864G>A NP_001158136.1:p.Cys1955Tyr NC_000005.10:67165042:G:A p.(Cys1955Tyr) NC_000005.10:67165042:G:A p.(Cys1955Tyr) NC_000005.10:67165042:G:A Identity +NM_001164664.2:c.7553G>A NP_001158136.1:p.Ser2518Asn NC_000005.10:67166731:G:A p.(Ser2518Asn) NC_000005.10:67166731:G:A p.(Ser2518Asn) NC_000005.10:67166731:G:A Identity +NM_001042539.3:c.442G>A NP_001036004.1:p.Ala148Thr NC_000016.10:29807226:G:A p.(Ala148Thr) NC_000016.10:29807226:G:A p.(Ala148Thr) NC_000016.10:29807226:G:A Identity +NM_001393552.1:c.1670G>T NP_001380481.1:p.Gly557Val NC_000019.10:4216802:G:T p.(Gly557Val) NC_000019.10:4216802:G:T p.(Gly557Val) NC_000019.10:4216802:G:T Identity +NM_203406.2:c.571G>A NP_981951.2:p.Val191Met NC_000005.10:90461435:C:T p.(Val191Met) NC_000005.10:90461435:C:T p.(Val191Met) NC_000005.10:90461435:C:T Identity +NM_001393552.1:c.209G>T NP_001380481.1:p.Arg70Leu NC_000019.10:4199959:G:T p.(Arg70Leu) NC_000019.10:4199959:G:T p.(Arg70Leu) NC_000019.10:4199959:G:T Identity +NM_001331100.2:c.2279G>A NP_001318029.1:p.Arg760His NC_000009.12:38588574:C:T p.(Arg760His) NC_000009.12:38588574:C:T p.(Arg760His) NC_000009.12:38588574:C:T Identity +NM_001319245.2:c.4190G>A NP_001306174.1:p.Arg1397His NC_000001.11:46034861:G:A p.(Arg1397His) NC_000001.11:46034861:G:A p.(Arg1397His) NC_000001.11:46034861:G:A Identity +NM_001319245.2:c.626C>T NP_001306174.1:p.Ser209Phe NC_000001.11:45997756:C:T p.(Ser209Phe) NC_000001.11:45997756:C:T p.(Ser209Phe) NC_000001.11:45997756:C:T Identity +NM_001136493.3:c.13G>A NP_001129965.1:p.Glu5Lys NC_000001.11:39955304:G:A p.(Glu5Lys) NC_000001.11:39955304:G:A p.(Glu5Lys) NC_000001.11:39955304:G:A Identity +NM_001346880.2:c.64C>G NP_001333809.1:p.Pro22Ala NC_000002.12:24010159:C:G p.(Pro22Ala) NC_000002.12:24010159:C:G p.(Pro22Ala) NC_000002.12:24010159:C:G Identity +NM_138431.3:c.404G>A NP_612440.1:p.Gly135Asp NC_000008.11:144509736:G:A p.(Gly135Asp) NC_000008.11:144509736:G:A p.(Gly135Asp) NC_000008.11:144509736:G:A Identity +NM_001365693.1:c.7508C>A NP_001352622.1:p.Thr2503Asn NC_000007.14:142095613:C:A p.(Thr2503Asn) NC_000007.14:142095613:C:A p.(Thr2503Asn) NC_000007.14:142095613:C:A Identity +NM_012214.3:c.349A>G NP_036346.1:p.Lys117Glu NC_000002.12:98675088:T:C p.(Lys117Glu) NC_000002.12:98675088:T:C p.(Lys117Glu) NC_000002.12:98675088:T:C Identity +NM_001099855.2:c.265G>A NP_001093325.1:p.Val89Ile NC_000023.11:139632420:C:T p.(Val89Ile) NC_000023.11:139632420:C:T p.(Val89Ile) NC_000023.11:139632420:C:T Identity +NM_006739.4:c.1943C>T NP_006730.2:p.Thr648Met NC_000022.11:35421427:C:T p.(Thr648Met) NC_000022.11:35421427:C:T p.(Thr648Met) NC_000022.11:35421427:C:T Identity +NM_001378120.1:c.2305G>T NP_001365049.1:p.Val769Phe NC_000002.12:148470247:G:T p.(Val769Phe) NC_000002.12:148470247:G:T p.(Val769Phe) NC_000002.12:148470247:G:T Identity +NM_052897.4:c.555C>A NP_443129.3:p.Phe185Leu NC_000012.12:57525522:C:A p.(Phe185Leu) NC_000012.12:57525522:C:A p.(Phe185Leu) NC_000012.12:57525522:C:A Identity +NM_001146056.3:c.506G>A NP_001139528.1:p.Arg169His NC_000019.10:54180901:C:T p.(Arg169His) NC_000019.10:54180901:C:T p.(Arg169His) NC_000019.10:54180901:C:T Identity +NM_001247988.1:c.1345A>G NP_001234917.1:p.Arg449Gly NC_000014.9:39317982:A:G p.(Arg449Gly) NC_000014.9:39317982:A:G p.(Arg449Gly) NC_000014.9:39317982:A:G Identity +NM_001300867.2:c.2290G>A NP_001287796.1:p.Asp764Asn NC_000001.11:222665550:G:A p.(Asp764Asn) NC_000001.11:222665550:G:A p.(Asp764Asn) NC_000001.11:222665550:G:A Identity +NM_015997.4:c.1024C>G NP_057081.3:p.Arg342Gly NC_000001.11:156734395:C:G p.(Arg342Gly) NC_000001.11:156734395:C:G p.(Arg342Gly) NC_000001.11:156734395:C:G Identity +NM_001301790.2:c.682C>T NP_001288719.1:p.Pro228Ser NC_000003.12:15411293:G:A p.(Pro228Ser) NC_000003.12:15411293:G:A p.(Pro228Ser) NC_000003.12:15411293:G:A Identity +NM_001297709.2:c.132A>C NP_001284638.1:p.Glu44Asp NC_000012.12:8655792:T:G p.(Glu44Asp) NC_000012.12:8655792:T:G p.(Glu44Asp) NC_000012.12:8655792:T:G Identity +NM_001393552.1:c.2728G>A NP_001380481.1:p.Glu910Lys NC_000019.10:4217860:G:A p.(Glu910Lys) NC_000019.10:4217860:G:A p.(Glu910Lys) NC_000019.10:4217860:G:A Identity +NM_001040179.2:c.247A>C NP_001035269.1:p.Ile83Leu NC_000006.12:99947906:T:G p.(Ile83Leu) NC_000006.12:99947906:T:G p.(Ile83Leu) NC_000006.12:99947906:T:G Identity +NM_001282663.2:c.514A>T NP_001269592.1:p.Met172Leu NC_000011.10:12208063:A:T p.(Met172Leu) NC_000011.10:12208063:A:T p.(Met172Leu) NC_000011.10:12208063:A:T Identity +NM_001122731.2:c.2504C>G NP_001116203.1:p.Pro835Arg NC_000022.11:17865936:G:C p.(Pro835Arg) NC_000022.11:17865936:G:C p.(Pro835Arg) NC_000022.11:17865936:G:C Identity +NM_015241.3:c.3424G>A NP_056056.2:p.Ala1142Thr NC_000022.11:17822053:C:T p.(Ala1142Thr) NC_000022.11:17822053:C:T p.(Ala1142Thr) NC_000022.11:17822053:C:T Identity +NM_001204088.2:c.406G>A NP_001191017.1:p.Ala136Thr NC_000001.11:19656946:G:A p.(Ala136Thr) NC_000001.11:19656946:G:A p.(Ala136Thr) NC_000001.11:19656946:G:A Identity +NM_001382751.1:c.430C>T NP_001369680.1:p.Arg144Cys NC_000023.11:107841154:C:T p.(Arg144Cys) NC_000023.11:107841154:C:T p.(Arg144Cys) NC_000023.11:107841154:C:T Identity +NM_001281520.2:c.1955T>G NP_001268449.1:p.Val652Gly NC_000020.11:5985922:T:G p.(Val652Gly) NC_000020.11:5985922:T:G p.(Val652Gly) NC_000020.11:5985922:T:G Identity +NM_001002796.5:c.2166G>C NP_001002796.1:p.Trp722Cys NC_000005.10:94710818:C:G p.(Trp722Cys) NC_000005.10:94710818:C:G p.(Trp722Cys) NC_000005.10:94710818:C:G Identity +NM_153487.4:c.2073G>T NP_705691.1:p.Lys691Asn NC_000006.12:37646348:C:A p.(Lys691Asn) NC_000006.12:37646348:C:A p.(Lys691Asn) NC_000006.12:37646348:C:A Identity +NM_001278595.2:c.224G>A NP_001265524.1:p.Arg75His NC_000007.14:100098258:C:T p.(Arg75His) NC_000007.14:100098258:C:T p.(Arg75His) NC_000007.14:100098258:C:T Identity +NM_001330647.2:c.1366C>T NP_001317576.1:p.Arg456Cys NC_000001.11:84931453:G:A p.(Arg456Cys) NC_000001.11:84931453:G:A p.(Arg456Cys) NC_000001.11:84931453:G:A Identity +NM_001159643.2:c.1282C>T NP_001153115.1:p.His428Tyr NC_000015.10:94358592:C:T p.(His428Tyr) NC_000015.10:94358592:C:T p.(His428Tyr) NC_000015.10:94358592:C:T Identity +NM_014641.3:c.3749T>C NP_055456.2:p.Leu1250Pro NC_000006.12:30705433:A:G p.(Leu1250Pro) NC_000006.12:30705433:A:G p.(Leu1250Pro) NC_000006.12:30705433:A:G Identity +NM_001242532.5:c.553G>A NP_001229461.1:p.Val185Ile NC_000017.11:76744377:G:A p.(Val185Ile) NC_000017.11:76744377:G:A p.(Val185Ile) NC_000017.11:76744377:G:A Identity +NM_001247989.2:c.1645C>T NP_001234918.1:p.Pro549Ser NC_000014.9:39321013:C:T p.(Pro549Ser) NC_000014.9:39321013:C:T p.(Pro549Ser) NC_000014.9:39321013:C:T Identity +NM_001247988.1:c.1637C>A NP_001234917.1:p.Ala546Asp NC_000014.9:39345924:C:A p.(Ala546Asp) NC_000014.9:39345924:C:A p.(Ala546Asp) NC_000014.9:39345924:C:A Identity +NM_001040450.3:c.698C>T NP_001035540.1:p.Ser233Phe NC_000015.10:58772092:C:T p.(Ser233Phe) NC_000015.10:58772092:C:T p.(Ser233Phe) NC_000015.10:58772092:C:T Identity +NM_032222.3:c.1693T>G NP_115598.2:p.Tyr565Asp NC_000007.14:30859271:T:G p.(Tyr565Asp) NC_000007.14:30859271:T:G p.(Tyr565Asp) NC_000007.14:30859271:T:G Identity +NM_014611.3:c.14362G>A NP_055426.1:p.Glu4788Lys NC_000006.12:89662841:C:T p.(Glu4788Lys) NC_000006.12:89662841:C:T p.(Glu4788Lys) NC_000006.12:89662841:C:T Identity +NM_015241.3:c.4474G>A NP_056056.2:p.Ala1492Thr NC_000022.11:17818186:C:T p.(Ala1492Thr) NC_000022.11:17818186:C:T p.(Ala1492Thr) NC_000022.11:17818186:C:T Identity +NM_001410818.1:c.994G>A NP_001397747.1:p.Glu332Lys NC_000022.11:37922395:G:A p.(Glu332Lys) NC_000022.11:37922395:G:A p.(Glu332Lys) NC_000022.11:37922395:G:A Identity +NM_001349810.2:c.1217G>A NP_001336739.1:p.Arg406His NC_000008.11:17105561:G:A p.(Arg406His) NC_000008.11:17105561:G:A p.(Arg406His) NC_000008.11:17105561:G:A Identity +NM_014611.3:c.7570A>T NP_055426.1:p.Ile2524Leu NC_000006.12:89712116:T:A p.(Ile2524Leu) NC_000006.12:89712116:T:A p.(Ile2524Leu) NC_000006.12:89712116:T:A Identity +NM_002395.6:c.1043C>T NP_002386.1:p.Thr348Ile NC_000006.12:83228914:G:A p.(Thr348Ile) NC_000006.12:83228914:G:A p.(Thr348Ile) NC_000006.12:83228914:G:A Identity +NM_020947.4:c.1034A>G NP_065998.3:p.Tyr345Cys NC_000016.10:84482634:T:C p.(Tyr345Cys) NC_000016.10:84482634:T:C p.(Tyr345Cys) NC_000016.10:84482634:T:C Identity +NM_004831.5:c.857G>A NP_004822.2:p.Arg286Gln NC_000019.10:16576972:C:T p.(Arg286Gln) NC_000019.10:16576972:C:T p.(Arg286Gln) NC_000019.10:16576972:C:T Identity +NM_001029862.1:c.1801G>A NP_001025033.1:p.Asp601Asn NC_000018.10:14791466:G:A ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001029862.1, alt_ac=NM_001029862.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001029862.1 not found +NM_001115116.2:c.1385G>A NP_001108588.1:p.Arg462His NC_000002.12:70985091:G:A p.(Arg462His) NC_000002.12:70985091:G:A p.(Arg462His) NC_000002.12:70985091:G:A Identity +NM_001242929.2:c.277C>A NP_001229858.1:p.His93Asn NC_000016.10:4714161:G:T p.(His93Asn) NC_000016.10:4714161:G:T p.(His93Asn) NC_000016.10:4714161:G:T Identity +NM_005481.3:c.2030C>G NP_005472.2:p.Thr677Arg NC_000019.10:871993:G:C p.(Thr677Arg) NC_000019.10:871993:G:C p.(Thr677Arg) NC_000019.10:871993:G:C Identity +NM_001127395.5:c.236T>A NP_001120867.1:p.Val79Glu NC_000002.12:207621828:A:T p.(Val79Glu) NC_000002.12:207621828:A:T p.(Val79Glu) NC_000002.12:207621828:A:T Identity +NM_001145966.2:c.5915C>T NP_001139438.1:p.Thr1972Met NC_000010.11:128104844:G:A p.(Thr1972Met) NC_000010.11:128104844:G:A p.(Thr1972Met) NC_000010.11:128104844:G:A Identity +NM_020959.3:c.1148A>T NP_066010.1:p.Glu383Val NC_000019.10:17330249:T:A p.(Glu383Val) NC_000019.10:17330249:T:A p.(Glu383Val) NC_000019.10:17330249:T:A Identity +NM_001155.5:c.473T>C NP_001146.2:p.Leu158Pro NC_000005.10:151136271:A:G p.(Leu158Pro) NC_000005.10:151136271:A:G p.(Leu158Pro) NC_000005.10:151136271:A:G Identity +NM_001293186.2:c.416T>C NP_001280115.1:p.Met139Thr NC_000002.12:169819633:A:G p.(Met139Thr) NC_000002.12:169819633:A:G p.(Met139Thr) NC_000002.12:169819633:A:G Identity +NM_001243013.2:c.38T>C NP_001229942.1:p.Phe13Ser NC_000012.12:122960197:A:G p.(Phe13Ser) NC_000012.12:122960197:A:G p.(Phe13Ser) NC_000012.12:122960197:A:G Identity +NM_001159.4:c.830T>A NP_001150.3:p.Phe277Tyr NC_000002.12:200605550:T:A p.(Phe277Tyr) NC_000002.12:200605550:T:A p.(Phe277Tyr) NC_000002.12:200605550:T:A Identity +NM_001282474.2:c.572G>A NP_001269403.1:p.Arg191Gln NC_000014.9:23561979:C:T p.(Arg191Gln) NC_000014.9:23561979:C:T p.(Arg191Gln) NC_000014.9:23561979:C:T Identity +NM_001120.5:c.205G>C NP_001111.3:p.Asp69His NC_000004.12:2933629:C:G p.(Asp69His) NC_000004.12:2933629:C:G p.(Asp69His) NC_000004.12:2933629:C:G Identity +NM_138431.3:c.118G>A NP_612440.1:p.Val40Met NC_000008.11:144509450:G:A p.(Val40Met) NC_000008.11:144509450:G:A p.(Val40Met) NC_000008.11:144509450:G:A Identity +NM_001365693.1:c.8093G>C NP_001352622.1:p.Trp2698Ser NC_000007.14:142103347:G:C p.(Trp2698Ser) NC_000007.14:142103347:G:C p.(Trp2698Ser) NC_000007.14:142103347:G:C Identity +NM_001371457.1:c.356C>T NP_001358386.1:p.Ser119Phe NC_000002.12:134270499:C:T p.(Ser119Phe) NC_000002.12:134270499:C:T p.(Ser119Phe) NC_000002.12:134270499:C:T Identity +NM_020959.3:c.644G>A NP_066010.1:p.Arg215His NC_000019.10:17331353:C:T p.(Arg215His) NC_000019.10:17331353:C:T p.(Arg215His) NC_000019.10:17331353:C:T Identity +NM_001163.4:c.1714G>A NP_001154.2:p.Val572Met NC_000009.12:69456320:C:T p.(Val572Met) NC_000009.12:69456320:C:T p.(Val572Met) NC_000009.12:69456320:C:T Identity +NM_006051.4:c.797G>A NP_006042.3:p.Gly266Asp NC_000005.10:140561420:C:T p.(Gly266Asp) NC_000005.10:140561420:C:T p.(Gly266Asp) NC_000005.10:140561420:C:T Identity +NM_001282663.2:c.2818C>T NP_001269592.1:p.Pro940Ser NC_000011.10:12249216:C:T p.(Pro940Ser) NC_000011.10:12249216:C:T p.(Pro940Ser) NC_000011.10:12249216:C:T Identity +NM_001091.4:c.881C>T NP_001082.2:p.Pro294Leu NC_000007.14:150857350:C:T p.(Pro294Leu) NC_000007.14:150857350:C:T p.(Pro294Leu) NC_000007.14:150857350:C:T Identity +NM_001300887.2:c.473C>A NP_001287816.1:p.Ser158Tyr NC_000019.10:10581559:G:T p.(Ser158Tyr) NC_000019.10:10581559:G:T p.(Ser158Tyr) NC_000019.10:10581559:G:T Identity +NM_001030006.2:c.1843C>G NP_001025177.1:p.Leu615Val NC_000017.11:35657644:C:G p.(Leu615Val) NC_000017.11:35657644:C:G p.(Leu615Val) NC_000017.11:35657644:C:G Identity +NM_001304787.2:c.781G>A NP_001291716.1:p.Val261Met NC_000020.11:58461547:C:T p.(Val261Met) NC_000020.11:58461547:C:T p.(Val261Met) NC_000020.11:58461547:C:T Identity +NM_001639.4:c.337A>T NP_001630.1:p.Ile113Phe NC_000001.11:159588372:A:T p.(Ile113Phe) NC_000001.11:159588372:A:T p.(Ile113Phe) NC_000001.11:159588372:A:T Identity +NM_001280799.2:c.460C>T NP_001267728.1:p.Arg154Trp NC_000001.11:145874836:G:A p.(Arg154Trp) NC_000001.11:145874836:G:A p.(Arg154Trp) NC_000001.11:145874836:G:A Identity +NM_001253852.3:c.363A>G NP_001240781.1:p.Ile121Met NC_000001.11:113901860:T:C p.(Ile121Met) NC_000001.11:113901860:T:C p.(Ile121Met) NC_000001.11:113901860:T:C Identity +NM_001252127.2:c.1423A>G NP_001239056.1:p.Thr475Ala NC_000015.10:50958590:A:G p.(Thr475Ala) NC_000015.10:50958590:A:G p.(Thr475Ala) NC_000015.10:50958590:A:G Identity +NM_001166050.2:c.437C>T NP_001159522.1:p.Ser146Leu NC_000004.12:41013980:G:A p.(Ser146Leu) NC_000004.12:41013980:G:A p.(Ser146Leu) NC_000004.12:41013980:G:A Identity +NM_005161.6:c.730C>T NP_005152.1:p.Arg244Cys NC_000011.10:57236274:G:A p.(Arg244Cys) NC_000011.10:57236274:G:A p.(Arg244Cys) NC_000011.10:57236274:G:A Identity +NM_001392028.1:c.889A>G NP_001378957.1:p.Lys297Glu NC_000016.10:48138317:T:C p.(Lys297Glu) NC_000016.10:48138317:T:C p.(Lys297Glu) NC_000016.10:48138317:T:C Identity +NM_001424171.1:c.835G>A NP_001411100.1:p.Gly279Ser NC_000016.10:28495875:G:A ERR:Data provider error: ValueError: Transcript NM_001424171.1 not found ERR:Data provider error: ValueError: Transcript NM_001424171.1 not found ERR:AlignmentMapper(tx_ac=NM_001424171.1, alt_ac=NM_001424171.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001424171.1, alt_ac=NM_001424171.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001424171.1 not found +NM_000042.3:c.791G>T NP_000033.2:p.Cys264Phe NC_000017.11:66214643:C:A p.(Cys264Phe) NC_000017.11:66214643:C:A p.(Cys264Phe) NC_000017.11:66214643:C:A Identity +NM_014691.3:c.3593A>T NP_055506.1:p.Tyr1198Phe NC_000015.10:34873831:T:A p.(Tyr1198Phe) NC_000015.10:34873831:T:A p.(Tyr1198Phe) NC_000015.10:34873831:T:A Identity +NM_001318330.2:c.659A>G NP_001305259.1:p.Tyr220Cys NC_000010.11:15782164:T:C p.(Tyr220Cys) NC_000010.11:15782164:T:C p.(Tyr220Cys) NC_000010.11:15782164:T:C Identity +NM_024948.4:c.212A>G NP_079224.1:p.Lys71Arg NC_000010.11:15843234:T:C p.(Lys71Arg) NC_000010.11:15843234:T:C p.(Lys71Arg) NC_000010.11:15843234:T:C Identity +NM_024948.4:c.228T>A NP_079224.1:p.Asp76Glu NC_000010.11:15843218:A:T p.(Asp76Glu) NC_000010.11:15843218:A:T p.(Asp76Glu) NC_000010.11:15843218:A:T Identity +NM_001253900.1:c.32G>A NP_001240829.1:p.Arg11Lys NC_000007.14:130495372:G:A p.(Arg11Lys) NC_000007.14:130495372:G:A p.(Arg11Lys) NC_000007.14:130495372:G:A Identity +NM_001242832.2:c.427C>A NP_001229761.1:p.Pro143Thr NC_000011.10:47173809:G:T p.(Pro143Thr) NC_000011.10:47173809:G:T p.(Pro143Thr) NC_000011.10:47173809:G:T Identity +NM_001410846.1:c.3689A>G NP_001397775.1:p.Gln1230Arg NC_000020.11:49010338:A:G p.(Gln1230Arg) NC_000020.11:49010338:A:G p.(Gln1230Arg) NC_000020.11:49010338:A:G Identity +NM_001012659.2:c.802C>T NP_001012677.1:p.Leu268Phe NC_000003.12:121586453:C:T p.(Leu268Phe) NC_000003.12:121586453:C:T p.(Leu268Phe) NC_000003.12:121586453:C:T Identity +NM_024605.4:c.1096G>A NP_078881.3:p.Ala366Thr NC_000004.12:147906698:G:A p.(Ala366Thr) NC_000004.12:147906698:G:A p.(Ala366Thr) NC_000004.12:147906698:G:A Identity +NM_001368319.1:c.977C>A NP_001355248.1:p.Ala326Asp NC_000015.10:32629633:C:A p.(Ala326Asp) NC_000015.10:32629633:C:A p.(Ala326Asp) NC_000015.10:32629633:C:A Identity +NM_001320032.2:c.1102T>G NP_001306961.1:p.Ser368Ala NC_000003.12:183953234:A:C p.(Ser368Ala) NC_000003.12:183953234:A:C p.(Ser368Ala) NC_000003.12:183953234:A:C Identity +NM_018460.4:c.866G>A NP_060930.3:p.Arg289His NC_000002.12:143519304:G:A p.(Arg289His) NC_000002.12:143519304:G:A p.(Arg289His) NC_000002.12:143519304:G:A Identity +NM_014448.4:c.296C>T NP_055263.2:p.Ala99Val NC_000001.11:3463379:C:T p.(Ala99Val) NC_000001.11:3463379:C:T p.(Ala99Val) NC_000001.11:3463379:C:T Identity +NM_153213.5:c.836G>T NP_694945.2:p.Ser279Ile NC_000001.11:16207559:C:A p.(Ser279Ile) NC_000001.11:16207559:C:A p.(Ser279Ile) NC_000001.11:16207559:C:A Identity +NM_018071.5:c.1558G>T NP_060541.3:p.Val520Phe NC_000014.9:21075438:G:T p.(Val520Phe) NC_000014.9:21075438:G:T p.(Val520Phe) NC_000014.9:21075438:G:T Identity +NM_018353.5:c.2383A>G NP_060823.3:p.Asn795Asp NC_000014.9:45224203:T:C p.(Asn795Asp) NC_000014.9:45224203:T:C p.(Asn795Asp) NC_000014.9:45224203:T:C Identity +NM_018353.5:c.2602T>G NP_060823.3:p.Leu868Val NC_000014.9:45223984:A:C p.(Leu868Val) NC_000014.9:45223984:A:C p.(Leu868Val) NC_000014.9:45223984:A:C Identity +NM_001145966.2:c.5680G>A NP_001139438.1:p.Ala1894Thr NC_000010.11:128105079:C:T p.(Ala1894Thr) NC_000010.11:128105079:C:T p.(Ala1894Thr) NC_000010.11:128105079:C:T Identity +NM_001130415.2:c.275C>T NP_001123887.1:p.Ser92Leu NC_000012.12:12787086:C:T p.(Ser92Leu) NC_000012.12:12787086:C:T p.(Ser92Leu) NC_000012.12:12787086:C:T Identity +NM_001317384.3:c.566T>C NP_001304313.1:p.Ile189Thr NC_000018.10:26861176:A:G p.(Ile189Thr) NC_000018.10:26861176:A:G p.? NC_000018.10:26861176:A:G Identity +NM_001319675.2:c.289G>A NP_001306604.1:p.Gly97Ser NC_000012.12:82398812:G:A p.(Gly97Ser) NC_000012.12:82398812:G:A p.(Gly97Ser) NC_000012.12:82398812:G:A Identity +NM_001243013.2:c.64A>C NP_001229942.1:p.Thr22Pro NC_000012.12:122960171:T:G p.(Thr22Pro) NC_000012.12:122960171:T:G p.(Thr22Pro) NC_000012.12:122960171:T:G Identity +NM_001204831.3:c.1013A>C NP_001191760.1:p.Asp338Ala NC_000003.12:43576840:T:G p.(Asp338Ala) NC_000003.12:43576840:T:G p.(Asp338Ala) NC_000003.12:43576840:T:G Identity +NM_001080523.3:c.822C>G NP_001073992.2:p.Ile274Met NC_000019.10:4891210:G:C p.(Ile274Met) NC_000019.10:4891210:G:C p.(Ile274Met) NC_000019.10:4891210:G:C Identity +NM_001135191.2:c.1712A>G NP_001128663.1:p.Asp571Gly NC_000002.12:9374909:A:G p.(Asp571Gly) NC_000002.12:9374909:A:G p.(Asp571Gly) NC_000002.12:9374909:A:G Identity +NM_001143778.2:c.1883G>C NP_001137250.1:p.Cys628Ser NC_000001.11:23434294:C:G p.(Cys628Ser) NC_000001.11:23434294:C:G p.(Cys628Ser) NC_000001.11:23434294:C:G Identity +NM_001290258.2:c.370G>A NP_001277187.1:p.Val124Met NC_000007.14:123617655:G:A p.(Val124Met) NC_000007.14:123617655:G:A p.(Val124Met) NC_000007.14:123617655:G:A Identity +NM_080863.5:c.797C>T NP_543139.4:p.Ala266Val NC_000017.11:44176964:C:T p.(Ala266Val) NC_000017.11:44176964:C:T p.(Ala266Val) NC_000017.11:44176964:C:T Identity +NM_001001891.3:c.1487G>T NP_001001891.2:p.Arg496Leu NC_000002.12:241209600:G:T ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001001891.3, alt_ac=NM_001001891.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001001891.3 not found +NM_001153.5:c.418G>T NP_001144.1:p.Asp140Tyr NC_000002.12:69810613:G:T p.(Asp140Tyr) NC_000002.12:69810613:G:T p.(Asp140Tyr) NC_000002.12:69810613:G:T Identity +NM_001039569.2:c.190A>G NP_001034658.1:p.Ser64Gly NC_000002.12:223776001:T:C p.(Ser64Gly) NC_000002.12:223776001:T:C p.(Ser64Gly) NC_000002.12:223776001:T:C Identity +NM_015230.4:c.479A>G NP_056045.2:p.His160Arg NC_000004.12:36229007:T:C p.(His160Arg) NC_000004.12:36229007:T:C p.(His160Arg) NC_000004.12:36229007:T:C Identity +NM_001172.4:c.460A>C NP_001163.1:p.Thr154Pro NC_000014.9:67645739:A:C p.(Thr154Pro) NC_000014.9:67645739:A:C p.(Thr154Pro) NC_000014.9:67645739:A:C Identity +NM_153000.5:c.907C>T NP_694545.1:p.Arg303Cys NC_000018.10:10485593:C:T p.(Arg303Cys) NC_000018.10:10485593:C:T p.(Arg303Cys) NC_000018.10:10485593:C:T Identity +NM_001365693.1:c.230A>G NP_001352622.1:p.Asp77Gly NC_000007.14:142008607:A:G p.(Asp77Gly) NC_000007.14:142008607:A:G p.(Asp77Gly) NC_000007.14:142008607:A:G Identity +NM_001024656.3:c.197C>T NP_001019827.2:p.Pro66Leu NC_000019.10:50512500:G:A p.(Pro66Leu) NC_000019.10:50512500:G:A p.(Pro66Leu) NC_000019.10:50512500:G:A Identity +NM_020437.5:c.689C>T NP_065170.2:p.Thr230Ile NC_000022.11:26434303:C:T p.(Thr230Ile) NC_000022.11:26434303:C:T p.(Thr230Ile) NC_000022.11:26434303:C:T Identity +NM_001199417.2:c.1412C>T NP_001186346.1:p.Pro471Leu NC_000017.11:38467094:C:T p.(Pro471Leu) NC_000017.11:38467094:C:T p.(Pro471Leu) NC_000017.11:38467094:C:T Identity +NM_001247989.2:c.1673G>C NP_001234918.1:p.Gly558Ala NC_000014.9:39321041:G:C p.(Gly558Ala) NC_000014.9:39321041:G:C p.(Gly558Ala) NC_000014.9:39321041:G:C Identity +NM_001324062.2:c.1330C>G NP_001310991.1:p.Leu444Val NC_000001.11:222628549:C:G p.(Leu444Val) NC_000001.11:222628549:C:G p.(Leu444Val) NC_000001.11:222628549:C:G Identity +NM_001271748.2:c.466C>T NP_001258677.1:p.Arg156Cys NC_000023.11:55006856:C:T p.(Arg156Cys) NC_000023.11:55006856:C:T p.(Arg156Cys) NC_000023.11:55006856:C:T Identity +NM_000042.3:c.122A>G NP_000033.2:p.Tyr41Cys NC_000017.11:66228138:T:C p.(Tyr41Cys) NC_000017.11:66228138:T:C p.(Tyr41Cys) NC_000017.11:66228138:T:C Identity +NM_016466.6:c.26A>G NP_057550.3:p.Asp9Gly NC_000002.12:96857961:T:C p.(Asp9Gly) NC_000002.12:96857961:T:C p.(Asp9Gly) NC_000002.12:96857961:T:C Identity +NM_001043318.3:c.1276C>T NP_001036783.1:p.Pro426Ser NC_000014.9:73738732:G:A p.(Pro426Ser) NC_000014.9:73738732:G:A p.(Pro426Ser) NC_000014.9:73738732:G:A Identity +NM_001393587.1:c.142G>C NP_001380516.1:p.Asp48His NC_000022.11:36142056:C:G p.(Asp48His) NC_000022.11:36142056:C:G p.(Asp48His) NC_000022.11:36142056:C:G Identity +NM_030642.1:c.718A>C NP_085145.1:p.Ile240Leu NC_000022.11:35726785:A:C p.(Ile240Leu) NC_000022.11:35726785:A:C p.(Ile240Leu) NC_000022.11:35726785:A:C Identity +NM_001144070.2:c.1457C>T NP_001137542.1:p.Ser486Leu NC_000017.11:50667578:C:T p.(Ser486Leu) NC_000017.11:50667578:C:T p.(Ser486Leu) NC_000017.11:50667578:C:T Identity +NM_032222.3:c.818G>A NP_115598.2:p.Gly273Asp NC_000007.14:30791318:G:A p.(Gly273Asp) NC_000007.14:30791318:G:A p.(Gly273Asp) NC_000007.14:30791318:G:A Identity +NM_022481.6:c.2027G>A NP_071926.4:p.Arg676His NC_000005.10:141670591:C:T p.(Arg676His) NC_000005.10:141670591:C:T p.(Arg676His) NC_000005.10:141670591:C:T Identity +NM_001281483.2:c.920C>T NP_001268412.1:p.Ala307Val NC_000020.11:63287706:C:T p.(Ala307Val) NC_000020.11:63287706:C:T p.(Ala307Val) NC_000020.11:63287706:C:T Identity +NM_014570.5:c.278A>T NP_055385.3:p.Gln93Leu NC_000022.11:42835476:T:A p.(Gln93Leu) NC_000022.11:42835476:T:A p.(Gln93Leu) NC_000022.11:42835476:T:A Identity +NM_001413184.1:c.4452G>C NP_001400113.1:p.Gln1484His NC_000008.11:67218024:C:G p.(Gln1484His) NC_000008.11:67218024:C:G p.(Gln1484His) NC_000008.11:67218024:C:G Identity +NM_001410846.1:c.4952T>G NP_001397775.1:p.Leu1651Arg NC_000020.11:49028559:T:G p.(Leu1651Arg) NC_000020.11:49028559:T:G p.(Leu1651Arg) NC_000020.11:49028559:T:G Identity +NM_020340.5:c.2477A>G NP_065073.3:p.Glu826Gly NC_000006.12:138285960:A:G p.(Glu826Gly) NC_000006.12:138285960:A:G p.(Glu826Gly) NC_000006.12:138285960:A:G Identity +NM_004308.5:c.760C>A NP_004299.1:p.Pro254Thr NC_000011.10:46680546:G:T p.(Pro254Thr) NC_000011.10:46680546:G:T p.(Pro254Thr) NC_000011.10:46680546:G:T Identity +NM_173481.4:c.479C>T NP_775752.1:p.Thr160Met NC_000019.10:757424:C:T p.(Thr160Met) NC_000019.10:757424:C:T p.(Thr160Met) NC_000019.10:757424:C:T Identity +NM_001282290.2:c.1960G>A NP_001269219.1:p.Ala654Thr NC_000017.11:45396781:C:T p.(Ala654Thr) NC_000017.11:45396781:C:T p.(Ala654Thr) NC_000017.11:45396781:C:T Identity +NM_001142685.2:c.3919C>A NP_001136157.1:p.Pro1307Thr NC_000011.10:128972544:G:T p.(Pro1307Thr) NC_000011.10:128972544:G:T p.(Pro1307Thr) NC_000011.10:128972544:G:T Identity +NM_001172630.2:c.2467C>T NP_001166101.1:p.Pro823Ser NC_000019.10:35787439:C:T p.(Pro823Ser) NC_000019.10:35787439:C:T p.(Pro823Ser) NC_000019.10:35787439:C:T Identity +NM_001164431.3:c.1646G>T NP_001157903.2:p.Gly549Val NC_000020.11:38646122:G:T p.(Gly549Val) NC_000020.11:38646122:G:T p.(Gly549Val) NC_000020.11:38646122:G:T Identity +NM_004996.4:c.3085G>A NP_004987.2:p.Ala1029Thr NC_000016.10:16114770:G:A p.(Ala1029Thr) NC_000016.10:16114770:G:A p.(Ala1029Thr) NC_000016.10:16114770:G:A Identity +NM_001198665.2:c.844C>T NP_001185594.1:p.Arg282Trp NC_000011.10:120431887:C:T p.(Arg282Trp) NC_000011.10:120431887:C:T p.(Arg282Trp) NC_000011.10:120431887:C:T Identity +NM_025014.2:c.1946G>A NP_079290.1:p.Gly649Glu NC_000017.11:8318822:G:A p.(Gly649Glu) NC_000017.11:8318822:G:A p.(Gly649Glu) NC_000017.11:8318822:G:A Identity +NM_025014.2:c.474A>C NP_079290.1:p.Glu158Asp NC_000017.11:8312512:A:C p.(Glu158Asp) NC_000017.11:8312512:A:C p.(Glu158Asp) NC_000017.11:8312512:A:C Identity +NM_001006634.3:c.1736C>T NP_001006635.1:p.Pro579Leu NC_000016.10:24935627:G:A p.(Pro579Leu) NC_000016.10:24935627:G:A p.(Pro579Leu) NC_000016.10:24935627:G:A Identity +NM_001258415.2:c.194T>C NP_001245344.1:p.Ile65Thr NC_000011.10:110630717:A:G p.(Ile65Thr) NC_000011.10:110630717:A:G p.(Ile65Thr) NC_000011.10:110630717:A:G Identity +NM_001025616.3:c.1403C>T NP_001020787.2:p.Ser468Phe NC_000004.12:85995056:C:T p.(Ser468Phe) NC_000004.12:85995056:C:T p.(Ser468Phe) NC_000004.12:85995056:C:T Identity +NM_001142649.2:c.1217G>T NP_001136121.1:p.Arg406Ile NC_000011.10:22255409:G:T p.(Arg406Ile) NC_000011.10:22255409:G:T p.(Arg406Ile) NC_000011.10:22255409:G:T Identity +NM_001145794.2:c.328A>C NP_001139266.1:p.Lys110Gln NC_000004.12:80055981:T:G p.(Lys110Gln) NC_000004.12:80055981:T:G p.(Lys110Gln) NC_000004.12:80055981:T:G Identity +NM_001156.5:c.490G>A NP_001147.1:p.Asp164Asn NC_000010.11:73388359:C:T p.(Asp164Asn) NC_000010.11:73388359:C:T p.(Asp164Asn) NC_000010.11:73388359:C:T Identity +NM_001080479.3:c.670A>G NP_001073948.2:p.Arg224Gly NC_000005.10:73776525:A:G p.(Arg224Gly) NC_000005.10:73776525:A:G p.(Arg224Gly) NC_000005.10:73776525:A:G Identity +NM_001128615.2:c.293C>A NP_001122087.1:p.Thr98Asn NC_000003.12:56773715:G:T p.(Thr98Asn) NC_000003.12:56773715:G:T p.(Thr98Asn) NC_000003.12:56773715:G:T Identity +NM_018071.5:c.1865G>A NP_060541.3:p.Arg622Gln NC_000014.9:21076590:G:A p.(Arg622Gln) NC_000014.9:21076590:G:A p.(Arg622Gln) NC_000014.9:21076590:G:A Identity +NM_001367945.1:c.1564G>A NP_001354874.1:p.Glu522Lys NC_000011.10:100974593:G:A p.(Glu522Lys) NC_000011.10:100974593:G:A p.(Glu522Lys) NC_000011.10:100974593:G:A Identity +NM_001277731.2:c.1508C>T NP_001264660.1:p.Ala503Val NC_000017.11:42852850:C:T p.(Ala503Val) NC_000017.11:42852850:C:T p.(Ala503Val) NC_000017.11:42852850:C:T Identity +NM_001193329.3:c.1736A>G NP_001180258.1:p.Lys579Arg NC_000009.12:94955250:A:G p.(Lys579Arg) NC_000009.12:94955250:A:G p.(Lys579Arg) NC_000009.12:94955250:A:G Identity +NM_001030007.2:c.1805T>C NP_001025178.1:p.Val602Ala NC_000016.10:71745548:A:G p.(Val602Ala) NC_000016.10:71745548:A:G p.(Val602Ala) NC_000016.10:71745548:A:G Identity +NM_001282474.2:c.838C>T NP_001269403.1:p.Pro280Ser NC_000014.9:23561307:G:A p.(Pro280Ser) NC_000014.9:23561307:G:A p.(Pro280Ser) NC_000014.9:23561307:G:A Identity +NM_001252127.2:c.3017T>C NP_001239056.1:p.Ile1006Thr NC_000015.10:51001171:T:C p.(Ile1006Thr) NC_000015.10:51001171:T:C p.(Ile1006Thr) NC_000015.10:51001171:T:C Identity +NM_001346813.1:c.941G>C NP_001333742.1:p.Gly314Ala NC_000006.12:156778869:G:C ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001346813.1, alt_ac=NM_001346813.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001346813.1 not found +NM_005224.3:c.870C>G NP_005215.1:p.Asn290Lys NC_000019.10:964350:C:G p.(Asn290Lys) NC_000019.10:964350:C:G p.(Asn290Lys) NC_000019.10:964350:C:G Identity +NM_001176.4:c.596T>C NP_001167.2:p.Val199Ala NC_000016.10:282731:T:C p.(Val199Ala) NC_000016.10:282731:T:C p.(Val199Ala) NC_000016.10:282731:T:C Identity +NM_001377418.1:c.3260A>G NP_001364347.1:p.Lys1087Arg NC_000001.11:156942746:T:C p.(Lys1087Arg) NC_000001.11:156942746:T:C p.(Lys1087Arg) NC_000001.11:156942746:T:C Identity +NM_001286609.2:c.1544T>C NP_001273538.1:p.Leu515Ser NC_000006.12:108962013:T:C p.(Leu515Ser) NC_000006.12:108962013:T:C p.(Leu515Ser) NC_000006.12:108962013:T:C Identity +NM_001198793.1:c.1358G>A NP_001185722.1:p.Arg453Gln NC_000003.12:9829015:G:A p.(Arg453Gln) NC_000003.12:9829015:G:A p.(Arg453Gln) NC_000003.12:9829015:G:A Identity +NM_001199058.2:c.509A>G NP_001185987.1:p.Asp170Gly NC_000015.10:89903378:T:C p.(Asp170Gly) NC_000015.10:89903378:T:C p.(Asp170Gly) NC_000015.10:89903378:T:C Identity +NM_001011719.2:c.24C>G NP_001011719.1:p.Asn8Lys NC_000023.11:3006635:C:G p.(Asn8Lys) NC_000023.11:3006635:C:G p.(Asn8Lys) NC_000023.11:3006635:C:G Identity +NM_001357321.2:c.1498C>A NP_001344250.1:p.Leu500Ile NC_000002.12:43875157:C:A p.(Leu500Ile) NC_000002.12:43875157:C:A p.(Leu500Ile) NC_000002.12:43875157:C:A Identity +NM_001079536.2:c.239G>A NP_001073004.1:p.Arg80Gln NC_000011.10:3640189:C:T p.(Arg80Gln) NC_000011.10:3640189:C:T p.(Arg80Gln) NC_000011.10:3640189:C:T Identity +NM_002892.4:c.673G>A NP_002883.3:p.Ala225Thr NC_000014.9:58329537:G:A p.(Ala225Thr) NC_000014.9:58329537:G:A p.(Ala225Thr) NC_000014.9:58329537:G:A Identity +NM_001319085.2:c.1186G>A NP_001306014.1:p.Gly396Ser NC_000002.12:96551551:G:A p.(Gly396Ser) NC_000002.12:96551551:G:A p.(Gly396Ser) NC_000002.12:96551551:G:A Identity +NM_001244638.2:c.1019C>T NP_001231567.1:p.Thr340Ile NC_000010.11:62091210:C:T p.(Thr340Ile) NC_000010.11:62091210:C:T p.(Thr340Ile) NC_000010.11:62091210:C:T Identity +NM_001143778.2:c.821G>A NP_001137250.1:p.Arg274Gln NC_000001.11:23441197:C:T p.(Arg274Gln) NC_000001.11:23441197:C:T p.(Arg274Gln) NC_000001.11:23441197:C:T Identity +NM_024708.4:c.107A>G NP_078984.2:p.Gln36Arg NC_000015.10:100612322:A:G p.(Gln36Arg) NC_000015.10:100612322:A:G p.(Gln36Arg) NC_000015.10:100612322:A:G Identity +NM_001242906.2:c.479A>G NP_001229835.1:p.Asp160Gly NC_000022.11:29814669:T:C p.(Asp160Gly) NC_000022.11:29814669:T:C p.(Asp160Gly) NC_000022.11:29814669:T:C Identity +NM_001270439.2:c.311A>G NP_001257368.1:p.Asn104Ser NC_000001.11:183630551:T:C p.(Asn104Ser) NC_000001.11:183630551:T:C p.(Asn104Ser) NC_000001.11:183630551:T:C Identity +NM_001366177.2:c.7268G>A NP_001353106.1:p.Arg2423Gln NC_000001.11:155352818:C:T p.(Arg2423Gln) NC_000001.11:155352818:C:T p.(Arg2423Gln) NC_000001.11:155352818:C:T Identity +NM_001206846.2:c.3605C>A NP_001193775.1:p.Thr1202Asn NC_000001.11:197122294:G:T p.(Thr1202Asn) NC_000001.11:197122294:G:T p.(Thr1202Asn) NC_000001.11:197122294:G:T Identity +NM_001669.4:c.26G>A NP_001660.2:p.Arg9His NC_000023.11:2929249:C:T p.(Arg9His) NC_000023.11:2929249:C:T p.(Arg9His) NC_000023.11:2929249:C:T Identity +NM_001247996.2:c.3047C>T NP_001234925.1:p.Pro1016Leu NC_000008.11:130060702:G:A p.(Pro1016Leu) NC_000008.11:130060702:G:A p.(Pro1016Leu) NC_000008.11:130060702:G:A Identity +NM_001146314.2:c.65G>A NP_001139786.1:p.Arg22Gln NC_000003.12:51971605:C:T p.(Arg22Gln) NC_000003.12:51971605:C:T p.(Arg22Gln) NC_000003.12:51971605:C:T Identity +NM_138368.5:c.2164C>T NP_612377.4:p.Arg722Cys NC_000011.10:65778328:G:A p.(Arg722Cys) NC_000011.10:65778328:G:A p.(Arg722Cys) NC_000011.10:65778328:G:A Identity +NM_001163.4:c.1181A>T NP_001154.2:p.Gln394Leu NC_000009.12:69516029:T:A p.(Gln394Leu) NC_000009.12:69516029:T:A p.(Gln394Leu) NC_000009.12:69516029:T:A Identity +NM_004886.4:c.23G>A NP_004877.1:p.Arg8Gln NC_000019.10:3760241:C:T p.(Arg8Gln) NC_000019.10:3760241:C:T p.(Arg8Gln) NC_000019.10:3760241:C:T Identity +NM_001351273.1:c.1169G>T NP_001338202.1:p.Arg390Leu NC_000019.10:1457207:G:T p.(Arg390Leu) NC_000019.10:1457207:G:T p.(Arg390Leu) NC_000019.10:1457207:G:T Identity +NM_001040445.3:c.26G>A NP_001035535.1:p.Gly9Glu NC_000002.12:238427095:G:A p.(Gly9Glu) NC_000002.12:238427095:G:A p.(Gly9Glu) NC_000002.12:238427095:G:A Identity +NM_001142930.2:c.1512G>A NP_001136402.1:p.Arg504= NC_000011.10:43342446:G:A p.(Arg504=) NC_000011.10:43342446:G:A p.(Arg504=) NC_000011.10:43342446:G:A Identity +NM_173545.3:c.997G>C NP_775816.1:p.Gly333Arg NC_000002.12:68538063:G:C p.(Gly333Arg) NC_000002.12:68538063:G:C p.(Gly333Arg) NC_000002.12:68538063:G:C Identity +NM_152426.4:c.674G>A NP_689639.2:p.Gly225Asp NC_000022.11:39029430:G:A p.(Gly225Asp) NC_000022.11:39029430:G:A p.(Gly225Asp) NC_000022.11:39029430:G:A Identity +NM_001393587.1:c.781C>T NP_001380516.1:p.Arg261Trp NC_000022.11:36141417:G:A p.(Arg261Trp) NC_000022.11:36141417:G:A p.(Arg261Trp) NC_000022.11:36141417:G:A Identity +NM_001282476.2:c.1465G>A NP_001269405.1:p.Val489Ile NC_000017.11:60447660:C:T p.(Val489Ile) NC_000017.11:60447660:C:T p.(Val489Ile) NC_000017.11:60447660:C:T Identity +NM_001317384.3:c.80A>G NP_001304313.1:p.Lys27Arg NC_000018.10:26862548:T:C p.(Lys27Arg) NC_000018.10:26862548:T:C p.? NC_000018.10:26862548:T:C Identity +NM_001319839.2:c.644A>G NP_001306768.1:p.Lys215Arg NC_000012.12:125102751:A:G p.(Lys215Arg) NC_000012.12:125102751:A:G p.(Lys215Arg) NC_000012.12:125102751:A:G Identity +NM_020340.5:c.4537C>T NP_065073.3:p.Arg1513Cys NC_000006.12:138319764:C:T p.(Arg1513Cys) NC_000006.12:138319764:C:T p.(Arg1513Cys) NC_000006.12:138319764:C:T Identity +NM_001105515.3:c.671C>T NP_001098985.1:p.Ala224Val NC_000013.11:95209547:G:A p.(Ala224Val) NC_000013.11:95209547:G:A p.(Ala224Val) NC_000013.11:95209547:G:A Identity +NM_001367447.1:c.1430G>A NP_001354376.1:p.Ser477Asn NC_000010.11:24620434:C:T p.(Ser477Asn) NC_000010.11:24620434:C:T p.(Ser477Asn) NC_000010.11:24620434:C:T Identity +NM_001367447.1:c.5791C>A NP_001354376.1:p.Pro1931Thr NC_000010.11:24584467:G:T p.(Pro1931Thr) NC_000010.11:24584467:G:T p.(Pro1931Thr) NC_000010.11:24584467:G:T Identity +NM_001367447.1:c.5792C>G NP_001354376.1:p.Pro1931Arg NC_000010.11:24584466:G:C p.(Pro1931Arg) NC_000010.11:24584466:G:C p.(Pro1931Arg) NC_000010.11:24584466:G:C Identity +NM_001256024.2:c.2135C>T NP_001242953.1:p.Ala712Val NC_000010.11:48446400:G:A p.(Ala712Val) NC_000010.11:48446400:G:A p.(Ala712Val) NC_000010.11:48446400:G:A Identity +NM_001199417.2:c.2192A>G NP_001186346.1:p.Lys731Arg NC_000017.11:38477651:A:G p.(Lys731Arg) NC_000017.11:38477651:A:G p.(Lys731Arg) NC_000017.11:38477651:A:G Identity +NM_001199417.2:c.661A>G NP_001186346.1:p.Ser221Gly NC_000017.11:38466343:A:G p.(Ser221Gly) NC_000017.11:38466343:A:G p.(Ser221Gly) NC_000017.11:38466343:A:G Identity +NM_001287242.2:c.2249A>T NP_001274171.1:p.Asn750Ile NC_000023.11:11138998:T:A p.(Asn750Ile) NC_000023.11:11138998:T:A p.(Asn750Ile) NC_000023.11:11138998:T:A Identity +NM_001017526.2:c.292G>C NP_001017526.1:p.Asp98His NC_000022.11:44808430:G:C p.(Asp98His) NC_000022.11:44808430:G:C p.(Asp98His) NC_000022.11:44808430:G:C Identity +NM_000033.4:c.1872G>C NP_000024.2:p.Lys624Asn NC_000023.11:153743226:G:C p.(Lys624Asn) NC_000023.11:153743226:G:C p.(Lys624Asn) NC_000023.11:153743226:G:C Identity +NM_014786.4:c.1946G>A NP_055601.2:p.Gly649Glu NC_000011.10:73310583:G:A p.(Gly649Glu) NC_000011.10:73310583:G:A p.(Gly649Glu) NC_000011.10:73310583:G:A Identity +NM_014786.4:c.2087C>T NP_055601.2:p.Ser696Leu NC_000011.10:73310724:C:T p.(Ser696Leu) NC_000011.10:73310724:C:T p.(Ser696Leu) NC_000011.10:73310724:C:T Identity +NM_014786.4:c.538G>A NP_055601.2:p.Ala180Thr NC_000011.10:73309175:G:A p.(Ala180Thr) NC_000011.10:73309175:G:A p.(Ala180Thr) NC_000011.10:73309175:G:A Identity +NM_001251962.2:c.1765A>T NP_001238891.1:p.Met589Leu NC_000003.12:154191412:A:T p.(Met589Leu) NC_000003.12:154191412:A:T p.(Met589Leu) NC_000003.12:154191412:A:T Identity +NM_001080479.3:c.2356A>G NP_001073948.2:p.Arg786Gly NC_000005.10:73868157:A:G p.(Arg786Gly) NC_000005.10:73868157:A:G p.(Arg786Gly) NC_000005.10:73868157:A:G Identity +NM_001242729.2:c.1253T>A NP_001229658.1:p.Leu418His NC_000004.12:105659072:T:A p.(Leu418His) NC_000004.12:105659072:T:A p.(Leu418His) NC_000004.12:105659072:T:A Identity +NM_001031728.1:c.68G>A NP_001026898.1:p.Arg23His NC_000009.12:35665101:C:T ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found ERR:AlignmentMapper(tx_ac=NM_001031728.1, alt_ac=NM_001031728.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001031728.1, alt_ac=NM_001031728.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001031728.1 not found +NM_001278529.2:c.162G>C NP_001265458.1:p.Gln54His NC_000014.9:21078940:G:C p.(Gln54His) NC_000014.9:21078940:G:C p.(Gln54His) NC_000014.9:21078940:G:C Identity +NM_019087.3:c.425A>G NP_061960.1:p.Asn142Ser NC_000005.10:54113238:T:C p.(Asn142Ser) NC_000005.10:54113238:T:C p.(Asn142Ser) NC_000005.10:54113238:T:C Identity +NM_001199058.2:c.259G>A NP_001185987.1:p.Ala87Thr NC_000015.10:89908321:C:T p.(Ala87Thr) NC_000015.10:89908321:C:T p.(Ala87Thr) NC_000015.10:89908321:C:T Identity +NM_001267617.2:c.1280T>G NP_001254546.1:p.Leu427Arg NC_000003.12:35729518:T:G p.(Leu427Arg) NC_000003.12:35729518:T:G p.(Leu427Arg) NC_000003.12:35729518:T:G Identity +NM_001354210.2:c.1004G>A NP_001341139.1:p.Gly335Glu NC_000004.12:113903069:C:T p.(Gly335Glu) NC_000004.12:113903069:C:T p.(Gly335Glu) NC_000004.12:113903069:C:T Identity +NM_001145364.3:c.76C>T NP_001138836.2:p.Pro26Ser NC_000007.14:73738694:G:A p.(Pro26Ser) NC_000007.14:73738694:G:A p.(Pro26Ser) NC_000007.14:73738694:G:A Identity +NM_006828.4:c.5939C>T NP_006819.2:p.Pro1980Leu NC_000006.12:100516315:G:A p.(Pro1980Leu) NC_000006.12:100516315:G:A p.(Pro1980Leu) NC_000006.12:100516315:G:A Identity +NM_006828.4:c.6301T>C NP_006819.2:p.Cys2101Arg NC_000006.12:100510091:A:G p.(Cys2101Arg) NC_000006.12:100510091:A:G p.(Cys2101Arg) NC_000006.12:100510091:A:G Identity +NM_001353497.2:c.802G>A NP_001340426.1:p.Glu268Lys NC_000002.12:189666933:G:A p.(Glu268Lys) NC_000002.12:189666933:G:A p.(Glu268Lys) NC_000002.12:189666933:G:A Identity +NM_018136.5:c.4636G>A NP_060606.3:p.Ala1546Thr NC_000001.11:197104614:C:T p.(Ala1546Thr) NC_000001.11:197104614:C:T p.(Ala1546Thr) NC_000001.11:197104614:C:T Identity +NM_018136.5:c.7093C>G NP_060606.3:p.Gln2365Glu NC_000001.11:197102157:G:C p.(Gln2365Glu) NC_000001.11:197102157:G:C p.(Gln2365Glu) NC_000001.11:197102157:G:C Identity +NM_080622.4:c.1315G>C NP_542189.1:p.Ala439Pro NC_000020.11:63862854:G:C p.(Ala439Pro) NC_000020.11:63862854:G:C p.(Ala439Pro) NC_000020.11:63862854:G:C Identity +NM_001242338.3:c.119C>T NP_001229267.2:p.Ser40Phe NC_000002.12:23926651:G:A p.(Ser40Phe) NC_000002.12:23926651:G:A p.(Ser40Phe) NC_000002.12:23926651:G:A Identity +NM_001031722.4:c.545A>G NP_001026892.1:p.His182Arg NC_000006.12:30640419:A:G p.(His182Arg) NC_000006.12:30640419:A:G p.(His182Arg) NC_000006.12:30640419:A:G Identity +NM_014109.4:c.3483G>T NP_054828.2:p.Gln1161His NC_000008.11:123328574:C:A p.(Gln1161His) NC_000008.11:123328574:C:A p.(Gln1161His) NC_000008.11:123328574:C:A Identity +NM_001367971.1:c.4255G>A NP_001354900.1:p.Val1419Ile NC_000011.10:64900932:C:T p.(Val1419Ile) NC_000011.10:64900932:C:T p.(Val1419Ile) NC_000011.10:64900932:C:T Identity +NM_014924.5:c.15T>G NP_055739.2:p.Ser5Arg NC_000014.9:55411807:A:C p.(Ser5Arg) NC_000014.9:55411807:A:C p.(Ser5Arg) NC_000014.9:55411807:A:C Identity +NM_013325.5:c.330C>G NP_037457.3:p.Ser110Arg NC_000002.12:241654591:C:G p.(Ser110Arg) NC_000002.12:241654591:C:G p.(Ser110Arg) NC_000002.12:241654591:C:G Identity +NM_018036.7:c.4923G>T NP_060506.6:p.Gln1641His NC_000014.9:96303174:C:A p.(Gln1641His) NC_000014.9:96303174:C:A p.(Gln1641His) NC_000014.9:96303174:C:A Identity +NM_001136031.3:c.785C>G NP_001129503.2:p.Ser262Cys NC_000003.12:11332988:C:G p.(Ser262Cys) NC_000003.12:11332988:C:G p.(Ser262Cys) NC_000003.12:11332988:C:G Identity +NM_001286514.2:c.1199A>T NP_001273443.1:p.Asp400Val NC_000012.12:14425113:A:T p.(Asp400Val) NC_000012.12:14425113:A:T p.(Asp400Val) NC_000012.12:14425113:A:T Identity +NM_001007026.2:c.1799C>T NP_001007027.1:p.Pro600Leu NC_000012.12:6937065:C:T p.(Pro600Leu) NC_000012.12:6937065:C:T p.(Pro600Leu) NC_000012.12:6937065:C:T Identity +NM_001286495.2:c.2077A>C NP_001273424.1:p.Lys693Gln NC_000015.10:52608857:T:G p.(Lys693Gln) NC_000015.10:52608857:T:G p.(Lys693Gln) NC_000015.10:52608857:T:G Identity +NM_001392009.1:c.902A>T NP_001378938.1:p.Asp301Val NC_000014.9:22610892:A:T p.(Asp301Val) NC_000014.9:22610892:A:T p.(Asp301Val) NC_000014.9:22610892:A:T Identity +NM_032827.7:c.392C>T NP_116216.2:p.Ala131Val NC_000002.12:85754580:C:T p.(Ala131Val) NC_000002.12:85754580:C:T p.(Ala131Val) NC_000002.12:85754580:C:T Identity +NM_001286495.2:c.1531C>T NP_001273424.1:p.Pro511Ser NC_000015.10:52609403:G:A p.(Pro511Ser) NC_000015.10:52609403:G:A p.(Pro511Ser) NC_000015.10:52609403:G:A Identity +NM_024490.4:c.2058G>C NP_077816.1:p.Glu686Asp NC_000015.10:25713959:C:G p.(Glu686Asp) NC_000015.10:25713959:C:G p.(Glu686Asp) NC_000015.10:25713959:C:G Identity +NM_004044.7:c.212C>T NP_004035.2:p.Ala71Val NC_000002.12:215318221:C:T p.(Ala71Val) NC_000002.12:215318221:C:T p.(Ala71Val) NC_000002.12:215318221:C:T Identity +NM_001286495.2:c.1651C>T NP_001273424.1:p.His551Tyr NC_000015.10:52609283:G:A p.(His551Tyr) NC_000015.10:52609283:G:A p.(His551Tyr) NC_000015.10:52609283:G:A Identity +NM_001135673.4:c.1642C>T NP_001129145.1:p.Pro548Ser NC_000002.12:38296103:G:A p.(Pro548Ser) NC_000002.12:38296103:G:A p.(Pro548Ser) NC_000002.12:38296103:G:A Identity +NM_024490.4:c.3055C>T NP_077816.1:p.Arg1019Trp NC_000015.10:25694851:G:A p.(Arg1019Trp) NC_000015.10:25694851:G:A p.(Arg1019Trp) NC_000015.10:25694851:G:A Identity +NM_001012750.3:c.878G>C NP_001012768.1:p.Arg293Pro NC_000010.11:26759180:C:G p.(Arg293Pro) NC_000010.11:26759180:C:G p.(Arg293Pro) NC_000010.11:26759180:C:G Identity +NM_020410.3:c.2343G>T NP_065143.2:p.Gln781His NC_000019.10:19649932:C:A p.(Gln781His) NC_000019.10:19649932:C:A p.(Gln781His) NC_000019.10:19649932:C:A Identity +NM_001135186.2:c.968T>C NP_001128658.2:p.Phe323Ser NC_000017.11:49222599:T:C p.(Phe323Ser) NC_000017.11:49222599:T:C p.(Phe323Ser) NC_000017.11:49222599:T:C Identity +NM_001141973.3:c.2366T>A NP_001135445.1:p.Met789Lys NC_000001.11:16990157:A:T p.(Met789Lys) NC_000001.11:16990157:A:T p.(Met789Lys) NC_000001.11:16990157:A:T Identity +NM_198505.4:c.434A>G NP_940907.2:p.Glu145Gly NC_000003.12:193362587:T:C p.(Glu145Gly) NC_000003.12:193362587:T:C p.(Glu145Gly) NC_000003.12:193362587:T:C Identity +NM_001405661.1:c.3274C>G NP_001392590.1:p.Leu1092Val NC_000013.11:112875887:C:G p.(Leu1092Val) NC_000013.11:112875887:C:G p.(Leu1092Val) NC_000013.11:112875887:C:G Identity +NM_001001331.4:c.1595C>G NP_001001331.1:p.Thr532Ser NC_000003.12:10371872:G:C p.(Thr532Ser) NC_000003.12:10371872:G:C p.(Thr532Ser) NC_000003.12:10371872:G:C Identity +NM_000704.3:c.866A>G NP_000695.2:p.Glu289Gly NC_000019.10:35559994:T:C p.(Glu289Gly) NC_000019.10:35559994:T:C p.(Glu289Gly) NC_000019.10:35559994:T:C Identity +NM_001001323.2:c.2534G>A NP_001001323.1:p.Gly845Glu NC_000012.12:89604254:C:T p.(Gly845Glu) NC_000012.12:89604254:C:T p.(Gly845Glu) NC_000012.12:89604254:C:T Identity +NM_001001344.3:c.1697C>T NP_001001344.1:p.Pro566Leu NC_000023.11:153550159:C:T p.(Pro566Leu) NC_000023.11:153550159:C:T p.(Pro566Leu) NC_000023.11:153550159:C:T Identity +NM_000704.3:c.1979G>A NP_000695.2:p.Arg660His NC_000019.10:35555702:C:T p.(Arg660His) NC_000019.10:35555702:C:T p.(Arg660His) NC_000019.10:35555702:C:T Identity +NM_000705.4:c.497C>T NP_000696.1:p.Ala166Val NC_000013.11:113652930:G:A p.(Ala166Val) NC_000013.11:113652930:G:A p.(Ala166Val) NC_000013.11:113652930:G:A Identity +NM_007100.4:c.109G>A NP_009031.1:p.Ala37Thr NC_000004.12:673383:C:T p.(Ala37Thr) NC_000004.12:673383:C:T p.(Ala37Thr) NC_000004.12:673383:C:T Identity +NM_001198879.2:c.527A>G NP_001185808.1:p.Lys176Arg NC_000007.14:99434862:T:C p.(Lys176Arg) NC_000007.14:99434862:T:C p.(Lys176Arg) NC_000007.14:99434862:T:C Identity +NM_005173.4:c.679G>A NP_005164.2:p.Gly227Ser NC_000017.11:3947806:C:T p.(Gly227Ser) NC_000017.11:3947806:C:T p.(Gly227Ser) NC_000017.11:3947806:C:T Identity +NM_001686.4:c.73T>C NP_001677.2:p.Ser25Pro NC_000012.12:56645890:A:G p.(Ser25Pro) NC_000012.12:56645890:A:G p.(Ser25Pro) NC_000012.12:56645890:A:G Identity +NM_001198879.2:c.1129G>A NP_001185808.1:p.Ala377Thr NC_000007.14:99425549:C:T p.(Ala377Thr) NC_000007.14:99425549:C:T p.(Ala377Thr) NC_000007.14:99425549:C:T Identity +NM_001198879.2:c.1778C>T NP_001185808.1:p.Pro593Leu NC_000007.14:99424900:G:A p.(Pro593Leu) NC_000007.14:99424900:G:A p.(Pro593Leu) NC_000007.14:99424900:G:A Identity +NM_001198879.2:c.2159C>T NP_001185808.1:p.Pro720Leu NC_000007.14:99420057:G:A p.(Pro720Leu) NC_000007.14:99420057:G:A p.(Pro720Leu) NC_000007.14:99420057:G:A Identity +NM_001198879.2:c.2227G>A NP_001185808.1:p.Gly743Arg NC_000007.14:99419989:C:T p.(Gly743Arg) NC_000007.14:99419989:C:T p.(Gly743Arg) NC_000007.14:99419989:C:T Identity +NM_001688.5:c.79G>T NP_001679.2:p.Val27Leu NC_000001.11:111454211:G:T p.(Val27Leu) NC_000001.11:111454211:G:T p.(Val27Leu) NC_000001.11:111454211:G:T Identity +NM_012463.4:c.598A>G NP_036595.2:p.Thr200Ala NC_000012.12:123727858:A:G p.(Thr200Ala) NC_000012.12:123727858:A:G p.(Thr200Ala) NC_000012.12:123727858:A:G Identity +NM_001198879.2:c.2024G>A NP_001185808.1:p.Arg675His NC_000007.14:99423817:C:T p.(Arg675His) NC_000007.14:99423817:C:T p.(Arg675His) NC_000007.14:99423817:C:T Identity +NM_001198879.2:c.806A>G NP_001185808.1:p.Glu269Gly NC_000007.14:99429741:T:C p.(Glu269Gly) NC_000007.14:99429741:T:C p.(Glu269Gly) NC_000007.14:99429741:T:C Identity +NM_001130020.3:c.1336A>G NP_001123492.1:p.Met446Val NC_000017.11:42495033:A:G p.(Met446Val) NC_000017.11:42495033:A:G p.(Met446Val) NC_000017.11:42495033:A:G Identity +NM_015994.4:c.446C>T NP_057078.1:p.Ala149Val NC_000014.9:67345777:G:A p.(Ala149Val) NC_000014.9:67345777:G:A p.(Ala149Val) NC_000014.9:67345777:G:A Identity +NM_001105529.1:c.3013G>C NP_001098999.1:p.Val1005Leu NC_000004.12:42443629:C:G p.(Val1005Leu) NC_000004.12:42443629:C:G p.(Val1005Leu) NC_000004.12:42443629:C:G Identity +NM_001178002.3:c.2555G>A NP_001171473.1:p.Arg852His NC_000019.10:1789539:C:T p.(Arg852His) NC_000019.10:1789539:C:T p.(Arg852His) NC_000019.10:1789539:C:T Identity +NM_024837.4:c.3073A>C NP_079113.2:p.Ile1025Leu NC_000015.10:49866438:T:G p.(Ile1025Leu) NC_000015.10:49866438:T:G p.(Ile1025Leu) NC_000015.10:49866438:T:G Identity +NM_001198879.2:c.761A>G NP_001185808.1:p.Glu254Gly NC_000007.14:99429786:T:C p.(Glu254Gly) NC_000007.14:99429786:T:C p.(Glu254Gly) NC_000007.14:99429786:T:C Identity +NM_001003696.2:c.80T>C NP_001003696.1:p.Val27Ala NC_000021.9:25729714:A:G p.(Val27Ala) NC_000021.9:25729714:A:G p.(Val27Ala) NC_000021.9:25729714:A:G Identity +NM_024837.4:c.509A>T NP_079113.2:p.Glu170Val NC_000015.10:49996756:T:A p.(Glu170Val) NC_000015.10:49996756:T:A p.(Glu170Val) NC_000015.10:49996756:T:A Identity +NM_001258388.2:c.528G>T NP_001245317.1:p.Trp176Cys NC_000005.10:10227563:C:A p.(Trp176Cys) NC_000005.10:10227563:C:A p.(Trp176Cys) NC_000005.10:10227563:C:A Identity +NM_001207047.3:c.1805A>G NP_001193976.1:p.Asn602Ser NC_000020.11:3575886:A:G p.(Asn602Ser) NC_000020.11:3575886:A:G p.(Asn602Ser) NC_000020.11:3575886:A:G Identity +NM_001310121.1:c.1918G>A NP_001297050.1:p.Ala640Thr NC_000012.12:111488482:C:T p.(Ala640Thr) NC_000012.12:111488482:C:T p.(Ala640Thr) NC_000012.12:111488482:C:T Identity +NM_012103.2:c.1001T>A NP_036235.1:p.Met334Lys NC_000002.12:74527773:A:T ERR:Data provider error: ValueError: Transcript NM_012103.2 not found ERR:Data provider error: ValueError: Transcript NM_012103.2 not found ERR:AlignmentMapper(tx_ac=NM_012103.2, alt_ac=NM_012103.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_012103.2, alt_ac=NM_012103.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_012103.2 not found +NM_006576.4:c.1621G>T NP_006567.3:p.Asp541Tyr NC_000012.12:57806409:C:A p.(Asp541Tyr) NC_000012.12:57806409:C:A p.(Asp541Tyr) NC_000012.12:57806409:C:A Identity +NM_001137675.4:c.1676G>A NP_001131147.1:p.Arg559Gln NC_000016.10:71851415:G:A p.(Arg559Gln) NC_000016.10:71851415:G:A p.(Arg559Gln) NC_000016.10:71851415:G:A Identity +NM_001323303.2:c.968T>C NP_001310232.1:p.Leu323Ser NC_000020.11:56370545:A:G p.(Leu323Ser) NC_000020.11:56370545:A:G p.(Leu323Ser) NC_000020.11:56370545:A:G Identity +NM_001159746.3:c.46G>A NP_001153218.1:p.Ala16Thr NC_000017.11:1125244:C:T p.(Ala16Thr) NC_000017.11:1125244:C:T p.(Ala16Thr) NC_000017.11:1125244:C:T Identity +NM_024837.4:c.749G>A NP_079113.2:p.Gly250Asp NC_000015.10:49981293:C:T p.(Gly250Asp) NC_000015.10:49981293:C:T p.(Gly250Asp) NC_000015.10:49981293:C:T Identity +NM_001271022.2:c.1123G>A NP_001257951.1:p.Ala375Thr NC_000003.12:48460557:G:A p.(Ala375Thr) NC_000003.12:48460557:G:A p.(Ala375Thr) NC_000003.12:48460557:G:A Identity +NM_000707.5:c.815T>A NP_000698.1:p.Ile272Asn NC_000001.11:206116075:A:T p.(Ile272Asn) NC_000001.11:206116075:A:T p.(Ile272Asn) NC_000001.11:206116075:A:T Identity +NM_001092.5:c.752G>A NP_001083.2:p.Arg251His NC_000017.11:1072644:C:T p.(Arg251His) NC_000017.11:1072644:C:T p.(Arg251His) NC_000017.11:1072644:C:T Identity +NM_144696.6:c.2483G>A NP_653297.3:p.Arg828Gln NC_000001.11:179509389:G:A p.(Arg828Gln) NC_000001.11:179509389:G:A p.(Arg828Gln) NC_000001.11:179509389:G:A Identity +NM_080742.3:c.167G>A NP_542780.1:p.Arg56Lys NC_000006.12:70956262:C:T p.(Arg56Lys) NC_000006.12:70956262:C:T p.(Arg56Lys) NC_000006.12:70956262:C:T Identity +NM_138706.5:c.454C>T NP_619651.3:p.Arg152Cys NC_000011.10:77040004:C:T p.(Arg152Cys) NC_000011.10:77040004:C:T p.(Arg152Cys) NC_000011.10:77040004:C:T Identity +NM_173593.4:c.1316C>T NP_775864.3:p.Ala439Val NC_000012.12:553238:C:T p.(Ala439Val) NC_000012.12:553238:C:T p.(Ala439Val) NC_000012.12:553238:C:T Identity +NM_173593.4:c.869A>G NP_775864.3:p.Gln290Arg NC_000012.12:549783:A:G p.(Gln290Arg) NC_000012.12:549783:A:G p.(Gln290Arg) NC_000012.12:549783:A:G Identity +NM_001137675.4:c.1354G>C NP_001131147.1:p.Asp452His NC_000016.10:71851093:G:C p.(Asp452His) NC_000016.10:71851093:G:C p.(Asp452His) NC_000016.10:71851093:G:C Identity +NM_001261840.2:c.113C>T NP_001248769.1:p.Thr38Ile NC_000002.12:27894668:C:T p.(Thr38Ile) NC_000002.12:27894668:C:T p.(Thr38Ile) NC_000002.12:27894668:C:T Identity +NM_145804.3:c.1573C>A NP_665803.2:p.Pro525Thr NC_000011.10:34167982:G:T p.(Pro525Thr) NC_000011.10:34167982:G:T p.(Pro525Thr) NC_000011.10:34167982:G:T Identity +NM_001083907.3:c.1831A>G NP_001077376.3:p.Arg611Gly NC_000004.12:102043858:A:G p.(Arg611Gly) NC_000004.12:102043858:A:G p.(Arg611Gly) NC_000004.12:102043858:A:G Identity +NM_001127507.3:c.55G>T NP_001120979.3:p.Gly19Cys NC_000004.12:101790934:G:T p.(Gly19Cys) NC_000004.12:101790934:G:T p.(Gly19Cys) NC_000004.12:101790934:G:T Identity +NM_013448.3:c.92A>G NP_038476.2:p.Asn31Ser NC_000014.9:34874512:T:C p.(Asn31Ser) NC_000014.9:34874512:T:C p.(Asn31Ser) NC_000014.9:34874512:T:C Identity +NM_001700.5:c.273G>T NP_001691.1:p.Arg91Ser NC_000019.10:829618:G:T p.(Arg91Ser) NC_000019.10:829618:G:T p.(Arg91Ser) NC_000019.10:829618:G:T Identity +NM_020981.4:c.175A>T NP_066191.1:p.Asn59Tyr NC_000002.12:167869213:A:T p.(Asn59Tyr) NC_000002.12:167869213:A:T p.(Asn59Tyr) NC_000002.12:167869213:A:T Identity +NM_138706.5:c.268C>A NP_619651.3:p.Gln90Lys NC_000011.10:77039818:C:A p.(Gln90Lys) NC_000011.10:77039818:C:A p.(Gln90Lys) NC_000011.10:77039818:C:A Identity +NM_033309.3:c.118C>G NP_171608.2:p.Arg40Gly NC_000016.10:67150367:G:C p.(Arg40Gly) NC_000016.10:67150367:G:C p.(Arg40Gly) NC_000016.10:67150367:G:C Identity +NM_145804.3:c.703A>G NP_665803.2:p.Met235Val NC_000011.10:34356880:T:C p.(Met235Val) NC_000011.10:34356880:T:C p.(Met235Val) NC_000011.10:34356880:T:C Identity +NM_001170714.3:c.659C>T NP_001164185.1:p.Pro220Leu NC_000016.10:75242581:G:A p.(Pro220Leu) NC_000016.10:75242581:G:A p.(Pro220Leu) NC_000016.10:75242581:G:A Identity +NM_001009905.3:c.874G>A NP_001009905.2:p.Glu292Lys NC_000017.11:82957191:C:T p.(Glu292Lys) NC_000017.11:82957191:C:T p.(Glu292Lys) NC_000017.11:82957191:C:T Identity +NM_178537.5:c.145G>C NP_848632.2:p.Gly49Arg NC_000011.10:369947:G:C p.(Gly49Arg) NC_000011.10:369947:G:C p.(Gly49Arg) NC_000011.10:369947:G:C Identity +NM_001378495.1:c.190C>T NP_001365424.1:p.Leu64Phe NC_000009.12:33166940:G:A p.(Leu64Phe) NC_000009.12:33166940:G:A p.(Leu64Phe) NC_000009.12:33166940:G:A Identity +NM_003778.4:c.853A>G NP_003769.1:p.Thr285Ala NC_000003.12:119216288:T:C p.(Thr285Ala) NC_000003.12:119216288:T:C p.(Thr285Ala) NC_000003.12:119216288:T:C Identity +NM_001172415.2:c.337G>A NP_001165886.1:p.Val113Ile NC_000009.12:33259014:C:T p.(Val113Ile) NC_000009.12:33259014:C:T p.(Val113Ile) NC_000009.12:33259014:C:T Identity +NM_001017523.2:c.475A>T NP_001017523.1:p.Met159Leu NC_000012.12:107612833:A:T p.(Met159Leu) NC_000012.12:107612833:A:T p.(Met159Leu) NC_000012.12:107612833:A:T Identity +NM_001170714.3:c.1268G>T NP_001164185.1:p.Gly423Val NC_000016.10:75235768:C:A p.(Gly423Val) NC_000016.10:75235768:C:A p.(Gly423Val) NC_000016.10:75235768:C:A Identity +NM_001199096.2:c.2302C>T NP_001186025.1:p.Arg768Cys NC_000016.10:1346277:C:T p.(Arg768Cys) NC_000016.10:1346277:C:T p.(Arg768Cys) NC_000016.10:1346277:C:T Identity +NM_001173539.2:c.509T>C NP_001167010.1:p.Ile170Thr NC_000016.10:88006118:T:C p.(Ile170Thr) NC_000016.10:88006118:T:C p.(Ile170Thr) NC_000016.10:88006118:T:C Identity +NM_020064.4:c.943C>A NP_064448.1:p.Pro315Thr NC_000009.12:132589480:C:A p.(Pro315Thr) NC_000009.12:132589480:C:A p.(Pro315Thr) NC_000009.12:132589480:C:A Identity +NM_013448.3:c.2330C>T NP_038476.2:p.Ala777Val NC_000014.9:34776421:G:A p.(Ala777Val) NC_000014.9:34776421:G:A p.(Ala777Val) NC_000014.9:34776421:G:A Identity +NM_001370402.1:c.3362A>G NP_001357331.1:p.Lys1121Arg NC_000007.14:73459605:T:C p.(Lys1121Arg) NC_000007.14:73459605:T:C p.(Lys1121Arg) NC_000007.14:73459605:T:C Identity +NM_021948.5:c.505G>A NP_068767.3:p.Ala169Thr NC_000001.11:156647545:G:A p.(Ala169Thr) NC_000001.11:156647545:G:A p.(Ala169Thr) NC_000001.11:156647545:G:A Identity +NM_001261408.2:c.797A>G NP_001248337.1:p.Tyr266Cys NC_000001.11:93589108:T:C p.(Tyr266Cys) NC_000001.11:93589108:T:C p.(Tyr266Cys) NC_000001.11:93589108:T:C Identity +NM_001378213.1:c.2141C>T NP_001365142.1:p.Ala714Val NC_000011.10:118901601:G:A p.(Ala714Val) NC_000011.10:118901601:G:A p.(Ala714Val) NC_000011.10:118901601:G:A Identity +NM_001013257.2:c.752T>A NP_001013275.1:p.Leu251Gln NC_000019.10:44813587:T:A p.(Leu251Gln) NC_000019.10:44813587:T:A p.(Leu251Gln) NC_000019.10:44813587:T:A Identity +NM_021948.5:c.1490C>G NP_068767.3:p.Thr497Ser NC_000001.11:156652439:C:G p.(Thr497Ser) NC_000001.11:156652439:C:G p.(Thr497Ser) NC_000001.11:156652439:C:G Identity +NM_021948.5:c.2450C>T NP_068767.3:p.Pro817Leu NC_000001.11:156658554:C:T p.(Pro817Leu) NC_000001.11:156658554:C:T p.(Pro817Leu) NC_000001.11:156658554:C:T Identity +NM_001261408.2:c.909G>T NP_001248337.1:p.Leu303Phe NC_000001.11:93588996:C:A p.(Leu303Phe) NC_000001.11:93588996:C:A p.(Leu303Phe) NC_000001.11:93588996:C:A Identity +NM_001099432.3:c.1786G>T NP_001092902.1:p.Ala596Ser NC_000017.11:61034768:G:T p.(Ala596Ser) NC_000017.11:61034768:G:T p.(Ala596Ser) NC_000017.11:61034768:G:T Identity +NM_001010974.2:c.182C>T NP_001010974.1:p.Ala61Val NC_000020.11:50818211:C:T p.(Ala61Val) NC_000020.11:50818211:C:T p.(Ala61Val) NC_000020.11:50818211:C:T Identity +NM_001378213.1:c.2631G>A NP_001365142.1:p.Met877Ile NC_000011.10:118901111:C:T p.(Met877Ile) NC_000011.10:118901111:C:T p.(Met877Ile) NC_000011.10:118901111:C:T Identity +NM_001018072.2:c.959C>T NP_001018082.1:p.Ala320Val NC_000012.12:107319898:C:T p.(Ala320Val) NC_000012.12:107319898:C:T p.(Ala320Val) NC_000012.12:107319898:C:T Identity +NM_001370268.1:c.332A>G NP_001357197.1:p.Lys111Arg NC_000012.12:12079636:A:G p.(Lys111Arg) NC_000012.12:12079636:A:G p.(Lys111Arg) NC_000012.12:12079636:A:G Identity +NM_001018072.2:c.950C>T NP_001018082.1:p.Pro317Leu NC_000012.12:107319889:C:T p.(Pro317Leu) NC_000012.12:107319889:C:T p.(Pro317Leu) NC_000012.12:107319889:C:T Identity +NM_001099432.3:c.178A>G NP_001092902.1:p.Ile60Val NC_000017.11:60689724:A:G p.(Ile60Val) NC_000017.11:60689724:A:G p.(Ile60Val) NC_000017.11:60689724:A:G Identity +NM_000055.4:c.561T>A NP_000046.1:p.Asn187Lys NC_000003.12:165830472:A:T p.(Asn187Lys) NC_000003.12:165830472:A:T p.(Asn187Lys) NC_000003.12:165830472:A:T Identity +NM_001282237.2:c.1355A>G NP_001269166.1:p.Lys452Arg NC_000014.9:99175477:T:C p.(Lys452Arg) NC_000014.9:99175477:T:C p.(Lys452Arg) NC_000014.9:99175477:T:C Identity +NM_001270726.1:c.1273G>A NP_001257655.1:p.Ala425Thr NC_000022.11:17727276:G:A p.(Ala425Thr) NC_000022.11:17727276:G:A p.(Ala425Thr) NC_000022.11:17727276:G:A Identity +NM_001378213.1:c.3166C>T NP_001365142.1:p.Pro1056Ser NC_000011.10:118900156:G:A p.(Pro1056Ser) NC_000011.10:118900156:G:A p.(Pro1056Ser) NC_000011.10:118900156:G:A Identity +NM_001087.5:c.632T>G NP_001078.2:p.Phe211Cys NC_000002.12:218266489:A:C p.(Phe211Cys) NC_000002.12:218266489:A:C p.(Phe211Cys) NC_000002.12:218266489:A:C Identity +NM_018429.3:c.7721A>T NP_060899.2:p.Asn2574Ile NC_000005.10:71562497:A:T p.(Asn2574Ile) NC_000005.10:71562497:A:T p.(Asn2574Ile) NC_000005.10:71562497:A:T Identity +NM_153346.5:c.2380G>A NP_699177.2:p.Ala794Thr NC_000023.11:18165028:C:T p.(Ala794Thr) NC_000023.11:18165028:C:T p.(Ala794Thr) NC_000023.11:18165028:C:T Identity +NM_001037290.4:c.1126A>T NP_001032367.3:p.Arg376Trp NC_000011.10:112213756:A:T p.(Arg376Trp) NC_000011.10:112213756:A:T p.(Arg376Trp) NC_000011.10:112213756:A:T Identity +NM_001080450.3:c.100G>A NP_001073919.1:p.Val34Met NC_000006.12:107098690:C:T p.(Val34Met) NC_000006.12:107098690:C:T p.(Val34Met) NC_000006.12:107098690:C:T Identity +NM_001003398.3:c.678T>G NP_001003398.1:p.Ile226Met NC_000012.12:32305794:T:G p.(Ile226Met) NC_000012.12:32305794:T:G p.(Ile226Met) NC_000012.12:32305794:T:G Identity +NM_001318819.2:c.1024A>T NP_001305748.1:p.Ile342Phe NC_000006.12:42829356:A:T p.(Ile342Phe) NC_000006.12:42829356:A:T p.(Ile342Phe) NC_000006.12:42829356:A:T Identity +NM_001003398.3:c.1940T>C NP_001003398.1:p.Leu647Ser NC_000012.12:32328394:T:C p.(Leu647Ser) NC_000012.12:32328394:T:C p.(Leu647Ser) NC_000012.12:32328394:T:C Identity +NM_001159531.2:c.1553G>C NP_001153003.1:p.Gly518Ala NC_000014.9:100538197:C:G p.(Gly518Ala) NC_000014.9:100538197:C:G p.(Gly518Ala) NC_000014.9:100538197:C:G Identity +NM_001159547.2:c.418C>A NP_001153019.1:p.Pro140Thr NC_000004.12:42151725:G:T p.(Pro140Thr) NC_000004.12:42151725:G:T p.(Pro140Thr) NC_000004.12:42151725:G:T Identity +NM_001159547.2:c.98A>G NP_001153019.1:p.Lys33Arg NC_000004.12:42152045:T:C p.(Lys33Arg) NC_000004.12:42152045:T:C p.(Lys33Arg) NC_000004.12:42152045:T:C Identity +NM_001012270.2:c.23C>T NP_001012270.1:p.Pro8Leu NC_000017.11:78214338:C:T p.(Pro8Leu) NC_000017.11:78214338:C:T p.(Pro8Leu) NC_000017.11:78214338:C:T Identity +NM_001378125.1:c.7649C>T NP_001365054.1:p.Thr2550Met NC_000002.12:32482537:C:T p.(Thr2550Met) NC_000002.12:32482537:C:T p.(Thr2550Met) NC_000002.12:32482537:C:T Identity +NM_001384125.1:c.13486A>G NP_001371054.1:p.Ile4496Val NC_000004.12:122348658:A:G p.(Ile4496Val) NC_000004.12:122348658:A:G p.(Ile4496Val) NC_000004.12:122348658:A:G Identity +NM_001394372.1:c.1018C>T NP_001381301.1:p.Pro340Ser NC_000019.10:47680187:C:T p.(Pro340Ser) NC_000019.10:47680187:C:T p.(Pro340Ser) NC_000019.10:47680187:C:T Identity +NM_001318819.2:c.1576G>A NP_001305748.1:p.Ala526Thr NC_000006.12:42829908:G:A p.(Ala526Thr) NC_000006.12:42829908:G:A p.(Ala526Thr) NC_000006.12:42829908:G:A Identity +NM_001384125.1:c.512T>C NP_001371054.1:p.Ile171Thr NC_000004.12:122186188:T:C p.(Ile171Thr) NC_000004.12:122186188:T:C p.(Ile171Thr) NC_000004.12:122186188:T:C Identity +NM_001321560.2:c.2171C>A NP_001308489.1:p.Pro724His NC_000017.11:28635415:G:T p.(Pro724His) NC_000017.11:28635415:G:T p.(Pro724His) NC_000017.11:28635415:G:T Identity +NM_001168399.2:c.349A>G NP_001161871.1:p.Met117Val NC_000023.11:103309723:T:C p.(Met117Val) NC_000023.11:103309723:T:C p.(Met117Val) NC_000023.11:103309723:T:C Identity +NM_001321560.2:c.2513T>C NP_001308489.1:p.Leu838Pro NC_000017.11:28635073:A:G p.(Leu838Pro) NC_000017.11:28635073:A:G p.(Leu838Pro) NC_000017.11:28635073:A:G Identity +NM_001321560.2:c.2576C>T NP_001308489.1:p.Ala859Val NC_000017.11:28635010:G:A p.(Ala859Val) NC_000017.11:28635010:G:A p.(Ala859Val) NC_000017.11:28635010:G:A Identity +NM_017754.4:c.1906C>T NP_060224.3:p.Arg636Trp NC_000006.12:34858261:C:T p.(Arg636Trp) NC_000006.12:34858261:C:T p.(Arg636Trp) NC_000006.12:34858261:C:T Identity +NM_017754.4:c.502C>T NP_060224.3:p.Arg168Cys NC_000006.12:34834379:C:T p.(Arg168Cys) NC_000006.12:34834379:C:T p.(Arg168Cys) NC_000006.12:34834379:C:T Identity +NM_001006947.2:c.1336T>C NP_001006948.1:p.Ser446Pro NC_000012.12:100083086:A:G p.(Ser446Pro) NC_000012.12:100083086:A:G p.(Ser446Pro) NC_000012.12:100083086:A:G Identity +NM_001196.4:c.227C>G NP_001187.1:p.Ser76Cys NC_000022.11:17739484:G:C p.(Ser76Cys) NC_000022.11:17739484:G:C p.(Ser76Cys) NC_000022.11:17739484:G:C Identity +NM_001378125.1:c.6937C>A NP_001365054.1:p.Pro2313Thr NC_000002.12:32477454:C:A p.(Pro2313Thr) NC_000002.12:32477454:C:A p.(Pro2313Thr) NC_000002.12:32477454:C:A Identity +NM_001384125.1:c.1295C>A NP_001371054.1:p.Thr432Asn NC_000004.12:122199364:C:A p.(Thr432Asn) NC_000004.12:122199364:C:A p.(Thr432Asn) NC_000004.12:122199364:C:A Identity +NM_001384125.1:c.3950G>A NP_001371054.1:p.Arg1317His NC_000004.12:122239631:G:A p.(Arg1317His) NC_000004.12:122239631:G:A p.(Arg1317His) NC_000004.12:122239631:G:A Identity +NM_001030272.3:c.979C>T NP_001025443.1:p.Pro327Ser NC_000011.10:13372323:C:T p.(Pro327Ser) NC_000011.10:13372323:C:T p.(Pro327Ser) NC_000011.10:13372323:C:T Identity +NM_001301206.2:c.2881T>G NP_001288135.1:p.Ser961Ala NC_000015.10:83257524:A:C p.(Ser961Ala) NC_000015.10:83257524:A:C p.(Ser961Ala) NC_000015.10:83257524:A:C Identity +NM_001248002.3:c.1517T>C NP_001234931.1:p.Ile506Thr NC_000012.12:27403513:T:C p.(Ile506Thr) NC_000012.12:27403513:T:C p.(Ile506Thr) NC_000012.12:27403513:T:C Identity +NM_032169.5:c.1367C>G NP_115545.3:p.Thr456Arg NC_000003.12:132618680:G:C p.(Thr456Arg) NC_000003.12:132618680:G:C p.(Thr456Arg) NC_000003.12:132618680:G:C Identity +NM_001365308.1:c.195C>A NP_001352237.1:p.Asn65Lys NC_000007.14:33906878:C:A p.(Asn65Lys) NC_000007.14:33906878:C:A p.(Asn65Lys) NC_000007.14:33906878:C:A Identity +NM_001384125.1:c.5101C>G NP_001371054.1:p.Gln1701Glu NC_000004.12:122246214:C:G p.(Gln1701Glu) NC_000004.12:122246214:C:G p.(Gln1701Glu) NC_000004.12:122246214:C:G Identity +NM_001321560.2:c.2438G>A NP_001308489.1:p.Arg813Gln NC_000017.11:28635148:C:T p.(Arg813Gln) NC_000017.11:28635148:C:T p.(Arg813Gln) NC_000017.11:28635148:C:T Identity +NM_017754.4:c.3184A>T NP_060224.3:p.Met1062Leu NC_000006.12:34859539:A:T p.(Met1062Leu) NC_000006.12:34859539:A:T p.(Met1062Leu) NC_000006.12:34859539:A:T Identity +NM_001136538.2:c.3110G>A NP_001130010.1:p.Arg1037Gln NC_000012.12:111755722:G:A p.(Arg1037Gln) NC_000012.12:111755722:G:A p.(Arg1037Gln) NC_000012.12:111755722:G:A Identity +NM_148894.3:c.2906G>C NP_683692.2:p.Gly969Ala NC_000004.12:13603993:C:G p.(Gly969Ala) NC_000004.12:13603993:C:G p.(Gly969Ala) NC_000004.12:13603993:C:G Identity +NM_004459.7:c.4732A>G NP_004450.3:p.Ile1578Val NC_000017.11:67912237:A:G p.(Ile1578Val) NC_000017.11:67912237:A:G p.(Ile1578Val) NC_000017.11:67912237:A:G Identity +NM_001248002.3:c.149G>A NP_001234931.1:p.Arg50Gln NC_000012.12:27368378:G:A p.(Arg50Gln) NC_000012.12:27368378:G:A p.(Arg50Gln) NC_000012.12:27368378:G:A Identity +NM_001248002.3:c.1697G>A NP_001234931.1:p.Ser566Asn NC_000012.12:27418160:G:A p.(Ser566Asn) NC_000012.12:27418160:G:A p.(Ser566Asn) NC_000012.12:27418160:G:A Identity +NM_014482.3:c.886G>A NP_055297.1:p.Glu296Lys NC_000002.12:68866019:C:T p.(Glu296Lys) NC_000002.12:68866019:C:T p.(Glu296Lys) NC_000002.12:68866019:C:T Identity +NM_001320674.2:c.104C>A NP_001307603.2:p.Pro35Gln NC_000015.10:59680254:G:T p.(Pro35Gln) NC_000015.10:59680254:G:T p.(Pro35Gln) NC_000015.10:59680254:G:T Identity +NM_001725.3:c.722C>T NP_001716.3:p.Ala241Val NC_000020.11:38320239:C:T p.(Ala241Val) NC_000020.11:38320239:C:T p.(Ala241Val) NC_000020.11:38320239:C:T Identity +NM_182519.3:c.718C>T NP_872325.2:p.Arg240Trp NC_000020.11:33084931:C:T p.(Arg240Trp) NC_000020.11:33084931:C:T p.(Arg240Trp) NC_000020.11:33084931:C:T Identity +NM_004459.7:c.203G>C NP_004450.3:p.Arg68Thr NC_000017.11:67825926:G:C p.(Arg68Thr) NC_000017.11:67825926:G:C p.(Arg68Thr) NC_000017.11:67825926:G:C Identity +NM_148894.3:c.4036G>C NP_683692.2:p.Gly1346Arg NC_000004.12:13602863:C:G p.(Gly1346Arg) NC_000004.12:13602863:C:G p.(Gly1346Arg) NC_000004.12:13602863:C:G Identity +NM_001321025.2:c.92C>T NP_001307954.1:p.Pro31Leu NC_000001.11:149900150:C:T p.(Pro31Leu) NC_000001.11:149900150:C:T p.(Pro31Leu) NC_000001.11:149900150:C:T Identity +NM_001145783.2:c.254G>T NP_001139255.1:p.Arg85Leu NC_000019.10:19182644:C:A p.(Arg85Leu) NC_000019.10:19182644:C:A p.(Arg85Leu) NC_000019.10:19182644:C:A Identity +NM_001376932.3:c.799C>T NP_001363861.2:p.Pro267Ser NC_000020.11:33064731:C:T p.(Pro267Ser) NC_000020.11:33064731:C:T p.(Pro267Ser) NC_000020.11:33064731:C:T Identity +NM_001384125.1:c.7597C>G NP_001371054.1:p.Gln2533Glu NC_000004.12:122271120:C:G p.(Gln2533Glu) NC_000004.12:122271120:C:G p.(Gln2533Glu) NC_000004.12:122271120:C:G Identity +NM_001321560.2:c.1937T>C NP_001308489.1:p.Met646Thr NC_000017.11:28637004:A:G p.(Met646Thr) NC_000017.11:28637004:A:G p.(Met646Thr) NC_000017.11:28637004:A:G Identity +NM_001321560.2:c.4646C>T NP_001308489.1:p.Thr1549Ile NC_000017.11:28624335:G:A p.(Thr1549Ile) NC_000017.11:28624335:G:A p.(Thr1549Ile) NC_000017.11:28624335:G:A Identity +NM_017754.4:c.1168C>G NP_060224.3:p.Arg390Gly NC_000006.12:34856285:C:G p.(Arg390Gly) NC_000006.12:34856285:C:G p.(Arg390Gly) NC_000006.12:34856285:C:G Identity +NM_001136538.2:c.2915A>C NP_001130010.1:p.Lys972Thr NC_000012.12:111753775:A:C p.(Lys972Thr) NC_000012.12:111753775:A:C p.(Lys972Thr) NC_000012.12:111753775:A:C Identity +NM_001135.4:c.4445C>A NP_001126.3:p.Ser1482Tyr NC_000015.10:88857029:C:A p.(Ser1482Tyr) NC_000015.10:88857029:C:A p.(Ser1482Tyr) NC_000015.10:88857029:C:A Identity +NM_001143888.3:c.652C>G NP_001137360.1:p.Gln218Glu NC_000001.11:32378044:G:C p.(Gln218Glu) NC_000001.11:32378044:G:C p.(Gln218Glu) NC_000001.11:32378044:G:C Identity +NM_003458.4:c.3535C>T NP_003449.2:p.Arg1179Trp NC_000003.12:49653090:C:T p.(Arg1179Trp) NC_000003.12:49653090:C:T p.(Arg1179Trp) NC_000003.12:49653090:C:T Identity +NM_001317943.2:c.1079G>A NP_001304872.1:p.Gly360Asp NC_000009.12:113369996:G:A p.(Gly360Asp) NC_000009.12:113369996:G:A p.(Gly360Asp) NC_000009.12:113369996:G:A Identity +NM_000713.3:c.140C>T NP_000704.1:p.Pro47Leu NC_000019.10:40458484:G:A p.(Pro47Leu) NC_000019.10:40458484:G:A p.(Pro47Leu) NC_000019.10:40458484:G:A Identity +NM_001136538.2:c.62T>G NP_001130010.1:p.Leu21Arg NC_000012.12:111692770:T:G p.(Leu21Arg) NC_000012.12:111692770:T:G p.(Leu21Arg) NC_000012.12:111692770:T:G Identity +NM_001248004.3:c.142T>A NP_001234933.1:p.Phe48Ile NC_000012.12:27368371:T:A p.(Phe48Ile) NC_000012.12:27368371:T:A p.(Phe48Ile) NC_000012.12:27368371:T:A Identity +NM_001135.4:c.361C>T NP_001126.3:p.Gln121Ter NC_000015.10:88838952:C:T p.(Gln121Ter) NC_000015.10:88838952:C:T p.(Gln121Ter) NC_000015.10:88838952:C:T Identity +NM_001143888.3:c.1222A>G NP_001137360.1:p.Ile408Val NC_000001.11:32368535:T:C p.(Ile408Val) NC_000001.11:32368535:T:C p.(Ile408Val) NC_000001.11:32368535:T:C Identity +NM_003458.4:c.7885C>T NP_003449.2:p.Arg2629Cys NC_000003.12:49657440:C:T p.(Arg2629Cys) NC_000003.12:49657440:C:T p.(Arg2629Cys) NC_000003.12:49657440:C:T Identity +NM_003458.4:c.7966G>A NP_003449.2:p.Ala2656Thr NC_000003.12:49657521:G:A p.(Ala2656Thr) NC_000003.12:49657521:G:A p.(Ala2656Thr) NC_000003.12:49657521:G:A Identity +NM_001317943.2:c.434C>T NP_001304872.1:p.Thr145Ile NC_000009.12:113360639:C:T p.(Thr145Ile) NC_000009.12:113360639:C:T p.(Thr145Ile) NC_000009.12:113360639:C:T Identity +NM_001135.4:c.6538G>C NP_001126.3:p.Glu2180Gln NC_000015.10:88859122:G:C p.(Glu2180Gln) NC_000015.10:88859122:G:C p.(Glu2180Gln) NC_000015.10:88859122:G:C Identity +NM_017797.4:c.1375G>A NP_060267.2:p.Val459Met NC_000019.10:1986870:C:T p.(Val459Met) NC_000019.10:1986870:C:T p.(Val459Met) NC_000019.10:1986870:C:T Identity +NM_001729.4:c.412G>T NP_001720.1:p.Val138Phe NC_000004.12:74750588:C:A p.(Val138Phe) NC_000004.12:74750588:C:A p.(Val138Phe) NC_000004.12:74750588:C:A Identity +NM_148894.3:c.3509G>A NP_683692.2:p.Cys1170Tyr NC_000004.12:13603390:C:T p.(Cys1170Tyr) NC_000004.12:13603390:C:T p.(Cys1170Tyr) NC_000004.12:13603390:C:T Identity +NM_001300742.3:c.476C>A NP_001287671.1:p.Pro159His NC_000012.12:12465717:C:A p.(Pro159His) NC_000012.12:12465717:C:A p.(Pro159His) NC_000012.12:12465717:C:A Identity +NM_182519.3:c.530T>C NP_872325.2:p.Met177Thr NC_000020.11:33083726:T:C p.(Met177Thr) NC_000020.11:33083726:T:C p.(Met177Thr) NC_000020.11:33083726:T:C Identity +NM_001318189.3:c.1262T>C NP_001305118.1:p.Met421Thr NC_000010.11:122334974:T:C p.(Met421Thr) NC_000010.11:122334974:T:C p.(Met421Thr) NC_000010.11:122334974:T:C Identity +NM_018963.5:c.3106G>A NP_061836.2:p.Asp1036Asn NC_000021.9:39229330:C:T p.(Asp1036Asn) NC_000021.9:39229330:C:T p.(Asp1036Asn) NC_000021.9:39229330:C:T Identity +NM_001202560.3:c.779G>A NP_001189489.1:p.Gly260Glu NC_000007.14:73697630:G:A p.(Gly260Glu) NC_000007.14:73697630:G:A p.(Gly260Glu) NC_000007.14:73697630:G:A Identity +NM_006688.5:c.316G>C NP_006679.1:p.Gly106Arg NC_000017.11:44967732:C:G p.(Gly106Arg) NC_000017.11:44967732:C:G p.(Gly106Arg) NC_000017.11:44967732:C:G Identity +NM_001278616.2:c.1340C>T NP_001265545.1:p.Ala447Val NC_000002.12:110658618:G:A p.(Ala447Val) NC_000002.12:110658618:G:A p.(Ala447Val) NC_000002.12:110658618:G:A Identity +NM_001347465.2:c.597G>C NP_001334394.1:p.Gln199His NC_000001.11:22639265:G:C p.(Gln199His) NC_000001.11:22639265:G:C p.(Gln199His) NC_000001.11:22639265:G:C Identity +NM_001145101.3:c.1285A>G NP_001138573.1:p.Ile429Val NC_000011.10:57744987:T:C p.(Ile429Val) NC_000011.10:57744987:T:C p.(Ile429Val) NC_000011.10:57744987:T:C Identity +NM_001085357.2:c.542A>T NP_001078826.1:p.Asp181Val NC_000003.12:112466291:T:A p.(Asp181Val) NC_000003.12:112466291:T:A p.(Asp181Val) NC_000003.12:112466291:T:A Identity +NM_001304561.2:c.346C>T NP_001291490.1:p.Pro116Ser NC_000006.12:32405019:G:A p.(Pro116Ser) NC_000006.12:32405019:G:A p.(Pro116Ser) NC_000006.12:32405019:G:A Identity +NM_001304808.3:c.2846G>A NP_001291737.1:p.Arg949His NC_000022.11:49787400:C:T p.(Arg949His) NC_000022.11:49787400:C:T p.(Arg949His) NC_000022.11:49787400:C:T Identity +NM_001242805.2:c.2392A>G NP_001229734.2:p.Ile798Val NC_000001.11:92004416:A:G p.(Ile798Val) NC_000001.11:92004416:A:G p.(Ile798Val) NC_000001.11:92004416:A:G Identity +NM_018321.4:c.637A>G NP_060791.3:p.Asn213Asp NC_000005.10:34923207:A:G p.(Asn213Asp) NC_000005.10:34923207:A:G p.(Asn213Asp) NC_000005.10:34923207:A:G Identity +NM_001202560.3:c.281G>T NP_001189489.1:p.Arg94Leu NC_000007.14:73687013:G:T p.(Arg94Leu) NC_000007.14:73687013:G:T p.(Arg94Leu) NC_000007.14:73687013:G:T Identity +NM_032360.4:c.448T>C NP_115736.1:p.Tyr150His NC_000001.11:180430198:A:G p.(Tyr150His) NC_000001.11:180430198:A:G p.(Tyr150His) NC_000001.11:180430198:A:G Identity +NM_001737.5:c.1609A>G NP_001728.1:p.Ile537Val NC_000005.10:39288758:T:C p.(Ile537Val) NC_000005.10:39288758:T:C p.(Ile537Val) NC_000005.10:39288758:T:C Identity +NM_001737.5:c.643G>A NP_001728.1:p.Glu215Lys NC_000005.10:39316001:C:T p.(Glu215Lys) NC_000005.10:39316001:C:T p.(Glu215Lys) NC_000005.10:39316001:C:T Identity +NM_001321837.2:c.212C>T NP_001308766.1:p.Ser71Phe NC_000008.11:60279768:G:A p.(Ser71Phe) NC_000008.11:60279768:G:A p.(Ser71Phe) NC_000008.11:60279768:G:A Identity +NM_001199281.1:c.5233G>A NP_001186210.1:p.Gly1745Arg NC_000022.11:24166863:G:A p.(Gly1745Arg) NC_000022.11:24166863:G:A p.(Gly1745Arg) NC_000022.11:24166863:G:A Identity +NM_182527.3:c.211G>A NP_872333.1:p.Glu71Lys NC_000022.11:29727762:G:A p.(Glu71Lys) NC_000022.11:29727762:G:A p.(Glu71Lys) NC_000022.11:29727762:G:A Identity +NM_022735.4:c.842A>G NP_073572.2:p.Gln281Arg NC_000001.11:226159244:T:C p.(Gln281Arg) NC_000001.11:226159244:T:C p.(Gln281Arg) NC_000001.11:226159244:T:C Identity +NM_015695.3:c.1292A>G NP_056510.2:p.Gln431Arg NC_000006.12:36201613:A:G p.(Gln431Arg) NC_000006.12:36201613:A:G p.(Gln431Arg) NC_000006.12:36201613:A:G Identity +NM_001135.4:c.6200T>C NP_001126.3:p.Phe2067Ser NC_000015.10:88858784:T:C p.(Phe2067Ser) NC_000015.10:88858784:T:C p.(Phe2067Ser) NC_000015.10:88858784:T:C Identity +NM_004334.3:c.143T>C NP_004325.2:p.Leu48Pro NC_000004.12:15703286:T:C p.(Leu48Pro) NC_000004.12:15703286:T:C p.(Leu48Pro) NC_000004.12:15703286:T:C Identity +NM_001199281.1:c.3863T>C NP_001186210.1:p.Val1288Ala NC_000022.11:24096006:T:C p.(Val1288Ala) NC_000022.11:24096006:T:C p.(Val1288Ala) NC_000022.11:24096006:T:C Identity +NM_033122.4:c.476C>T NP_149113.3:p.Thr159Ile NC_000004.12:70335514:C:T p.(Thr159Ile) NC_000004.12:70335514:C:T p.(Thr159Ile) NC_000004.12:70335514:C:T Identity +NM_001005407.2:c.6944G>A NP_001005407.1:p.Arg2315Lys NC_000016.10:1220893:G:A p.(Arg2315Lys) NC_000016.10:1220893:G:A p.(Arg2315Lys) NC_000016.10:1220893:G:A Identity +NM_000069.3:c.4760C>T NP_000060.2:p.Ala1587Val NC_000001.11:201044364:G:A p.(Ala1587Val) NC_000001.11:201044364:G:A p.(Ala1587Val) NC_000001.11:201044364:G:A Identity +NM_001271749.2:c.944A>G NP_001258678.1:p.Gln315Arg NC_000019.10:47341742:A:G p.(Gln315Arg) NC_000019.10:47341742:A:G p.(Gln315Arg) NC_000019.10:47341742:A:G Identity +NM_000065.5:c.1778C>T NP_000056.2:p.Ala593Val NC_000005.10:41159159:G:A p.(Ala593Val) NC_000005.10:41159159:G:A p.(Ala593Val) NC_000005.10:41159159:G:A Identity +NM_000717.5:c.8T>C NP_000708.1:p.Met3Thr NC_000017.11:60150041:T:C p.(Met3Thr) NC_000017.11:60150041:T:C p.(Met3Thr) NC_000017.11:60150041:T:C Identity +NM_001216.3:c.1334G>C NP_001207.2:p.Gly445Ala NC_000009.12:35680978:G:C p.(Gly445Ala) NC_000009.12:35680978:G:C p.(Gly445Ala) NC_000009.12:35680978:G:C Identity +NM_001199281.1:c.4481C>T NP_001186210.1:p.Pro1494Leu NC_000022.11:24119546:C:T p.(Pro1494Leu) NC_000022.11:24119546:C:T p.(Pro1494Leu) NC_000022.11:24119546:C:T Identity +NM_001100619.3:c.498C>G NP_001094089.1:p.Phe166Leu NC_000018.10:23136259:C:G p.(Phe166Leu) NC_000018.10:23136259:C:G p.(Phe166Leu) NC_000018.10:23136259:C:G Identity +NM_001100619.3:c.646A>G NP_001094089.1:p.Ser216Gly NC_000018.10:23136407:A:G p.(Ser216Gly) NC_000018.10:23136407:A:G p.(Ser216Gly) NC_000018.10:23136407:A:G Identity +NM_001318496.2:c.628A>T NP_001305425.1:p.Asn210Tyr NC_000011.10:67519819:T:A p.(Asn210Tyr) NC_000011.10:67519819:T:A p.(Asn210Tyr) NC_000011.10:67519819:T:A Identity +NM_001256789.3:c.3190G>T NP_001243718.1:p.Ala1064Ser NC_000023.11:49216427:C:A p.(Ala1064Ser) NC_000023.11:49216427:C:A p.(Ala1064Ser) NC_000023.11:49216427:C:A Identity +NM_001256324.2:c.3194C>A NP_001243253.1:p.Ala1065Glu NC_000017.11:50596858:C:A p.(Ala1065Glu) NC_000017.11:50596858:C:A p.(Ala1065Glu) NC_000017.11:50596858:C:A Identity +NM_001256324.2:c.3554G>A NP_001243253.1:p.Arg1185His NC_000017.11:50599722:G:A p.(Arg1185His) NC_000017.11:50599722:G:A p.(Arg1185His) NC_000017.11:50599722:G:A Identity +NM_001005407.2:c.5926C>T NP_001005407.1:p.Pro1976Ser NC_000016.10:1219025:C:T p.(Pro1976Ser) NC_000016.10:1219025:C:T p.(Pro1976Ser) NC_000016.10:1219025:C:T Identity +NM_001003406.2:c.2942G>A NP_001003406.1:p.Arg981Gln NC_000022.11:39662109:G:A p.(Arg981Gln) NC_000022.11:39662109:G:A p.(Arg981Gln) NC_000022.11:39662109:G:A Identity +NM_001293274.2:c.191C>T NP_001280203.1:p.Ala64Val NC_000001.11:64641891:C:T p.(Ala64Val) NC_000001.11:64641891:C:T p.(Ala64Val) NC_000001.11:64641891:C:T Identity +NM_001256324.2:c.3620G>T NP_001243253.1:p.Arg1207Leu NC_000017.11:50599788:G:T p.(Arg1207Leu) NC_000017.11:50599788:G:T p.(Arg1207Leu) NC_000017.11:50599788:G:T Identity +NM_001005407.2:c.6523G>A NP_001005407.1:p.Ala2175Thr NC_000016.10:1220472:G:A p.(Ala2175Thr) NC_000016.10:1220472:G:A p.(Ala2175Thr) NC_000016.10:1220472:G:A Identity +NM_001010887.3:c.101A>G NP_001010887.2:p.Tyr34Cys NC_000009.12:19409184:A:G p.(Tyr34Cys) NC_000009.12:19409184:A:G p.(Tyr34Cys) NC_000009.12:19409184:A:G Identity +NM_000069.3:c.2399G>T NP_000060.2:p.Trp800Leu NC_000001.11:201069562:C:A p.(Trp800Leu) NC_000001.11:201069562:C:A p.(Trp800Leu) NC_000001.11:201069562:C:A Identity +NM_001159736.2:c.431G>A NP_001153208.1:p.Arg144His NC_000011.10:116763157:C:T p.(Arg144His) NC_000011.10:116763157:C:T p.(Arg144His) NC_000011.10:116763157:C:T Identity +NM_001202560.3:c.672A>C NP_001189489.1:p.Glu224Asp NC_000007.14:73694020:A:C p.(Glu224Asp) NC_000007.14:73694020:A:C p.(Glu224Asp) NC_000007.14:73694020:A:C Identity +NM_001202560.3:c.734G>A NP_001189489.1:p.Arg245Gln NC_000007.14:73697497:G:A p.(Arg245Gln) NC_000007.14:73697497:G:A p.(Arg245Gln) NC_000007.14:73697497:G:A Identity +NM_001207068.3:c.64C>T NP_001193997.1:p.Arg22Trp NC_000002.12:200812470:C:T p.(Arg22Trp) NC_000002.12:200812470:C:T p.(Arg22Trp) NC_000002.12:200812470:C:T Identity +NM_001286067.2:c.773C>T NP_001272996.1:p.Pro258Leu NC_000011.10:93759856:C:T p.(Pro258Leu) NC_000011.10:93759856:C:T p.(Pro258Leu) NC_000011.10:93759856:C:T Identity +NM_000491.5:c.46C>T NP_000482.3:p.Leu16Phe NC_000001.11:22659501:C:T p.(Leu16Phe) NC_000001.11:22659501:C:T p.(Leu16Phe) NC_000001.11:22659501:C:T Identity +NM_001740.5:c.739G>A NP_001731.2:p.Val247Ile NC_000016.10:71389787:G:A p.(Val247Ile) NC_000016.10:71389787:G:A p.(Val247Ile) NC_000016.10:71389787:G:A Identity +NM_001271751.2:c.78G>C NP_001258680.1:p.Glu26Asp NC_000002.12:187383278:C:G p.(Glu26Asp) NC_000002.12:187383278:C:G p.(Glu26Asp) NC_000002.12:187383278:C:G Identity +NM_001290474.2:c.160G>C NP_001277403.1:p.Gly54Arg NC_000011.10:119107900:G:C p.(Gly54Arg) NC_000011.10:119107900:G:C p.(Gly54Arg) NC_000011.10:119107900:G:C Identity +NM_001317163.2:c.3790A>G NP_001304092.1:p.Ser1264Gly NC_000009.12:120976791:T:C p.(Ser1264Gly) NC_000009.12:120976791:T:C p.(Ser1264Gly) NC_000009.12:120976791:T:C Identity +NM_001162499.2:c.1342C>G NP_001155971.1:p.Arg448Gly NC_000003.12:12815908:C:G p.(Arg448Gly) NC_000003.12:12815908:C:G p.(Arg448Gly) NC_000003.12:12815908:C:G Identity +NM_000066.4:c.929G>A NP_000057.3:p.Ser310Asn NC_000001.11:56945996:C:T p.(Ser310Asn) NC_000001.11:56945996:C:T p.(Ser310Asn) NC_000001.11:56945996:C:T Identity +NM_001215.4:c.682G>A NP_001206.2:p.Val228Ile NC_000001.11:8967768:G:A p.(Val228Ile) NC_000001.11:8967768:G:A p.(Val228Ile) NC_000001.11:8967768:G:A Identity +NM_001100619.3:c.527C>T NP_001094089.1:p.Ser176Leu NC_000018.10:23136288:C:T p.(Ser176Leu) NC_000018.10:23136288:C:T p.(Ser176Leu) NC_000018.10:23136288:C:T Identity +NM_001145122.2:c.829C>T NP_001138594.1:p.Arg277Trp NC_000002.12:31197294:G:A p.(Arg277Trp) NC_000002.12:31197294:G:A p.(Arg277Trp) NC_000002.12:31197294:G:A Identity +NM_005632.3:c.583G>T NP_005623.1:p.Val195Phe NC_000016.10:547420:G:T p.(Val195Phe) NC_000016.10:547420:G:T p.(Val195Phe) NC_000016.10:547420:G:T Identity +NM_001425321.1:c.737A>G NP_001412250.1:p.Asn246Ser NC_000011.10:77114351:A:G p.(Asn246Ser) NC_000011.10:77114351:A:G p.(Asn246Ser) NC_000011.10:77114351:A:G Identity +NM_001256139.2:c.733A>C NP_001243068.1:p.Asn245His NC_000002.12:85398715:T:G p.(Asn245His) NC_000002.12:85398715:T:G p.(Asn245His) NC_000002.12:85398715:T:G Identity +NM_021096.4:c.1508G>A NP_066919.2:p.Ser503Asn NC_000022.11:39647866:G:A p.(Ser503Asn) NC_000022.11:39647866:G:A p.(Ser503Asn) NC_000022.11:39647866:G:A Identity +NM_001003406.2:c.3907G>A NP_001003406.1:p.Val1303Met NC_000022.11:39665913:G:A p.(Val1303Met) NC_000022.11:39665913:G:A p.(Val1303Met) NC_000022.11:39665913:G:A Identity +NM_001306079.2:c.1486C>G NP_001293008.1:p.Arg496Gly NC_000002.12:27225108:C:G p.(Arg496Gly) NC_000002.12:27225108:C:G p.(Arg496Gly) NC_000002.12:27225108:C:G Identity +NM_001170692.2:c.1778C>T NP_001164163.1:p.Pro593Leu NC_000006.12:7370033:G:A p.(Pro593Leu) NC_000006.12:7370033:G:A p.(Pro593Leu) NC_000006.12:7370033:G:A Identity +NM_004058.5:c.415G>A NP_004049.3:p.Glu139Lys NC_000019.10:5915092:G:A p.(Glu139Lys) NC_000019.10:5915092:G:A p.(Glu139Lys) NC_000019.10:5915092:G:A Identity +NM_001306079.2:c.1037T>C NP_001293008.1:p.Met346Thr NC_000002.12:27223957:T:C p.(Met346Thr) NC_000002.12:27223957:T:C p.(Met346Thr) NC_000002.12:27223957:T:C Identity +NM_015916.5:c.643C>T NP_057000.2:p.Arg215Cys NC_000010.11:103447480:G:A p.(Arg215Cys) NC_000010.11:103447480:G:A p.(Arg215Cys) NC_000010.11:103447480:G:A Identity +NM_015547.4:c.1043G>A NP_056362.1:p.Arg348Gln NC_000001.11:54602681:G:A p.(Arg348Gln) NC_000001.11:54602681:G:A p.(Arg348Gln) NC_000001.11:54602681:G:A Identity +NM_032587.4:c.324G>C NP_115976.2:p.Met108Ile NC_000005.10:40843191:G:C p.(Met108Ile) NC_000005.10:40843191:G:C p.(Met108Ile) NC_000005.10:40843191:G:C Identity +NM_001166222.2:c.2228G>A NP_001159694.1:p.Arg743Gln NC_000011.10:67423975:G:A p.(Arg743Gln) NC_000011.10:67423975:G:A p.(Arg743Gln) NC_000011.10:67423975:G:A Identity +NM_001122951.3:c.841C>G NP_001116423.1:p.Gln281Glu NC_000001.11:159206273:C:G p.(Gln281Glu) NC_000001.11:159206273:C:G p.(Gln281Glu) NC_000001.11:159206273:C:G Identity +NM_033259.3:c.22A>G NP_150284.1:p.Ser8Gly NC_000003.12:184261263:T:C p.(Ser8Gly) NC_000003.12:184261263:T:C p.(Ser8Gly) NC_000003.12:184261263:T:C Identity +NM_032294.3:c.440A>G NP_115670.1:p.Asn147Ser NC_000017.11:3883905:T:C p.(Asn147Ser) NC_000017.11:3883905:T:C p.(Asn147Ser) NC_000017.11:3883905:T:C Identity +NM_001014437.3:c.2146G>A NP_001014437.1:p.Glu716Lys NC_000011.10:3006881:C:T p.(Glu716Lys) NC_000011.10:3006881:C:T p.(Glu716Lys) NC_000011.10:3006881:C:T Identity +NM_130767.3:c.944G>A NP_570123.1:p.Arg315Gln NC_000005.10:81344195:C:T p.(Arg315Gln) NC_000005.10:81344195:C:T p.(Arg315Gln) NC_000005.10:81344195:C:T Identity +NM_001320865.2:c.821C>A NP_001307794.1:p.Pro274Gln NC_000002.12:218367055:C:A p.(Pro274Gln) NC_000002.12:218367055:C:A p.(Pro274Gln) NC_000002.12:218367055:C:A Identity +NM_012232.6:c.193G>A NP_036364.2:p.Val65Ile NC_000017.11:42422904:C:T p.(Val65Ile) NC_000017.11:42422904:C:T p.(Val65Ile) NC_000017.11:42422904:C:T Identity +NM_012232.6:c.249G>C NP_036364.2:p.Glu83Asp NC_000017.11:42422848:C:G p.(Glu83Asp) NC_000017.11:42422848:C:G p.(Glu83Asp) NC_000017.11:42422848:C:G Identity +NM_001164114.2:c.601G>A NP_001157586.1:p.Val201Ile NC_000020.11:56451938:G:A p.(Val201Ile) NC_000020.11:56451938:G:A p.(Val201Ile) NC_000020.11:56451938:G:A Identity +NM_001079843.3:c.3178G>A NP_001073312.1:p.Gly1060Arg NC_000001.11:10648119:C:T p.(Gly1060Arg) NC_000001.11:10648119:C:T p.(Gly1060Arg) NC_000001.11:10648119:C:T Identity +NM_178019.3:c.337G>A NP_821138.1:p.Gly113Ser NC_000005.10:134996356:G:A p.(Gly113Ser) NC_000005.10:134996356:G:A p.(Gly113Ser) NC_000005.10:134996356:G:A Identity +NM_152784.4:c.1859A>G NP_689997.3:p.Gln620Arg NC_000019.10:5772882:A:G p.(Gln620Arg) NC_000019.10:5772882:A:G p.(Gln620Arg) NC_000019.10:5772882:A:G Identity +NM_001330496.2:c.597G>C NP_001317425.1:p.Arg199Ser NC_000019.10:38344295:G:C p.(Arg199Ser) NC_000019.10:38344295:G:C p.(Arg199Ser) NC_000019.10:38344295:G:C Identity +NM_182511.4:c.407T>C NP_872317.1:p.Val136Ala NC_000018.10:72538722:A:G p.(Val136Ala) NC_000018.10:72538722:A:G p.(Val136Ala) NC_000018.10:72538722:A:G Identity +NM_001256139.2:c.107A>G NP_001243068.1:p.Gln36Arg NC_000002.12:85401873:T:C p.(Gln36Arg) NC_000002.12:85401873:T:C p.(Gln36Arg) NC_000002.12:85401873:T:C Identity +NM_005632.3:c.2638G>A NP_005623.1:p.Val880Ile NC_000016.10:552430:G:A p.(Val880Ile) NC_000016.10:552430:G:A p.(Val880Ile) NC_000016.10:552430:G:A Identity +NM_005632.3:c.938G>A NP_005623.1:p.Gly313Asp NC_000016.10:547775:G:A p.(Gly313Asp) NC_000016.10:547775:G:A p.(Gly313Asp) NC_000016.10:547775:G:A Identity +NM_001162499.2:c.1075A>G NP_001155971.1:p.Ile359Val NC_000003.12:12815208:A:G p.(Ile359Val) NC_000003.12:12815208:A:G p.(Ile359Val) NC_000003.12:12815208:A:G Identity +NM_001024649.2:c.1063A>G NP_001019820.1:p.Ile355Val NC_000005.10:179720440:A:G p.(Ile355Val) NC_000005.10:179720440:A:G p.(Ile355Val) NC_000005.10:179720440:A:G Identity +NM_007058.4:c.498G>C NP_008989.2:p.Lys166Asn NC_000006.12:44172389:G:C p.(Lys166Asn) NC_000006.12:44172389:G:C p.(Lys166Asn) NC_000006.12:44172389:G:C Identity +NM_001319676.2:c.1649C>T NP_001306605.1:p.Thr550Ile NC_000001.11:230792895:C:T p.(Thr550Ile) NC_000001.11:230792895:C:T p.(Thr550Ile) NC_000001.11:230792895:C:T Identity +NM_032587.4:c.1052A>T NP_115976.2:p.Asp351Val NC_000005.10:40852383:A:T p.(Asp351Val) NC_000005.10:40852383:A:T p.(Asp351Val) NC_000005.10:40852383:A:T Identity +NM_001042476.2:c.86G>C NP_001035941.1:p.Arg29Pro NC_000016.10:8859242:C:G p.(Arg29Pro) NC_000016.10:8859242:C:G p.(Arg29Pro) NC_000016.10:8859242:C:G Identity +NM_001286341.2:c.469G>A NP_001273270.1:p.Glu157Lys NC_000013.11:45713574:G:A p.(Glu157Lys) NC_000013.11:45713574:G:A p.(Glu157Lys) NC_000013.11:45713574:G:A Identity +NM_001040440.3:c.659C>G NP_001035530.1:p.Pro220Arg NC_000005.10:115275474:G:C p.(Pro220Arg) NC_000005.10:115275474:G:C p.(Pro220Arg) NC_000005.10:115275474:G:C Identity +NM_001297696.2:c.954G>A NP_001284625.1:p.Ser318= NC_000005.10:69285434:C:T p.(Ser318=) NC_000005.10:69285434:C:T p.(Ser318=) NC_000005.10:69285434:C:T Identity +NM_005898.5:c.1456G>A NP_005889.3:p.Ala486Thr NC_000011.10:34090579:G:A p.(Ala486Thr) NC_000011.10:34090579:G:A p.(Ala486Thr) NC_000011.10:34090579:G:A Identity +NM_001037161.2:c.722T>C NP_001032238.1:p.Met241Thr NC_000014.9:73543110:T:C p.(Met241Thr) NC_000014.9:73543110:T:C p.(Met241Thr) NC_000014.9:73543110:T:C Identity +NM_001014437.3:c.1384G>T NP_001014437.1:p.Ala462Ser NC_000011.10:3019149:C:A p.(Ala462Ser) NC_000011.10:3019149:C:A p.(Ala462Ser) NC_000011.10:3019149:C:A Identity +NM_001018116.2:c.860A>C NP_001018126.1:p.Glu287Ala NC_000009.12:100586215:A:C p.(Glu287Ala) NC_000009.12:100586215:A:C p.(Glu287Ala) NC_000009.12:100586215:A:C Identity +NM_007274.4:c.517C>G NP_009205.3:p.Arg173Gly NC_000001.11:6327406:G:C p.(Arg173Gly) NC_000001.11:6327406:G:C p.(Arg173Gly) NC_000001.11:6327406:G:C Identity +NM_001321786.1:c.2624C>T NP_001308715.1:p.Ser875Leu NC_000003.12:105678459:G:A p.(Ser875Leu) NC_000003.12:105678459:G:A p.(Ser875Leu) NC_000003.12:105678459:G:A Identity +NM_025004.3:c.82G>A NP_079280.2:p.Val28Met NC_000011.10:124954813:G:A p.(Val28Met) NC_000011.10:124954813:G:A p.(Val28Met) NC_000011.10:124954813:G:A Identity +NM_001080539.2:c.2369A>T NP_001074008.1:p.Asp790Val NC_000002.12:196721630:A:T p.(Asp790Val) NC_000002.12:196721630:A:T p.(Asp790Val) NC_000002.12:196721630:A:T Identity +NM_020764.4:c.2765C>T NP_065815.1:p.Ala922Val NC_000016.10:2180602:G:A p.(Ala922Val) NC_000016.10:2180602:G:A p.(Ala922Val) NC_000016.10:2180602:G:A Identity +NM_001142807.4:c.1481G>A NP_001136279.1:p.Arg494Gln NC_000002.12:111092904:G:A p.(Arg494Gln) NC_000002.12:111092904:G:A p.(Arg494Gln) NC_000002.12:111092904:G:A Identity +NM_001101357.3:c.836G>A NP_001094827.1:p.Ser279Asn NC_000023.11:134245635:G:A p.(Ser279Asn) NC_000023.11:134245635:G:A p.(Ser279Asn) NC_000023.11:134245635:G:A Identity +NM_178019.3:c.599G>A NP_821138.1:p.Gly200Glu NC_000005.10:135008062:G:A p.(Gly200Glu) NC_000005.10:135008062:G:A p.(Gly200Glu) NC_000005.10:135008062:G:A Identity +NM_001364177.1:c.835G>A NP_001351106.1:p.Glu279Lys NC_000014.9:73575486:G:A p.(Glu279Lys) NC_000014.9:73575486:G:A p.(Glu279Lys) NC_000014.9:73575486:G:A Identity +NM_001282309.3:c.1535A>T NP_001269238.1:p.Lys512Met NC_000015.10:43632218:T:A p.(Lys512Met) NC_000015.10:43632218:T:A p.(Lys512Met) NC_000015.10:43632218:T:A Identity +NM_001198910.2:c.1482C>A NP_001185839.1:p.Asn494Lys NC_000013.11:36170536:G:T p.(Asn494Lys) NC_000013.11:36170536:G:T p.(Asn494Lys) NC_000013.11:36170536:G:T Identity +NM_001164399.2:c.1933G>A NP_001157871.1:p.Gly645Arg NC_000014.9:59525343:C:T p.(Gly645Arg) NC_000014.9:59525343:C:T p.(Gly645Arg) NC_000014.9:59525343:C:T Identity +NM_144719.4:c.434G>A NP_653320.3:p.Arg145Gln NC_000003.12:42752653:C:T p.(Arg145Gln) NC_000003.12:42752653:C:T p.(Arg145Gln) NC_000003.12:42752653:C:T Identity +NM_001301684.2:c.456G>T NP_001288613.1:p.Arg152Ser NC_000002.12:158313764:C:A p.(Arg152Ser) NC_000002.12:158313764:C:A p.(Arg152Ser) NC_000002.12:158313764:C:A Identity +NM_001330496.2:c.3232G>A NP_001317425.1:p.Ala1078Thr NC_000019.10:38370663:G:A p.(Ala1078Thr) NC_000019.10:38370663:G:A p.(Ala1078Thr) NC_000019.10:38370663:G:A Identity +NM_001018116.2:c.368A>G NP_001018126.1:p.Glu123Gly NC_000009.12:100578510:A:G p.(Glu123Gly) NC_000009.12:100578510:A:G p.(Glu123Gly) NC_000009.12:100578510:A:G Identity +NM_005188.4:c.71G>T NP_005179.2:p.Gly24Val NC_000011.10:119206487:G:T p.(Gly24Val) NC_000011.10:119206487:G:T p.(Gly24Val) NC_000011.10:119206487:G:T Identity +NM_001321786.1:c.443G>A NP_001308715.1:p.Arg148Gln NC_000003.12:105853473:C:T p.(Arg148Gln) NC_000003.12:105853473:C:T p.(Arg148Gln) NC_000003.12:105853473:C:T Identity +NM_001236.4:c.631C>T NP_001227.1:p.Arg211Cys NC_000021.9:36146308:C:T p.(Arg211Cys) NC_000021.9:36146308:C:T p.(Arg211Cys) NC_000021.9:36146308:C:T Identity +NM_001283056.2:c.859C>T NP_001269985.1:p.Leu287Phe NC_000014.9:57471506:G:A p.(Leu287Phe) NC_000014.9:57471506:G:A p.(Leu287Phe) NC_000014.9:57471506:G:A Identity +NM_001243342.2:c.1610A>G NP_001230271.1:p.Tyr537Cys NC_000017.11:80081592:A:G p.(Tyr537Cys) NC_000017.11:80081592:A:G p.(Tyr537Cys) NC_000017.11:80081592:A:G Identity +NM_001316321.3:c.382C>T NP_001303250.1:p.Arg128Cys NC_000017.11:82201562:G:A p.(Arg128Cys) NC_000017.11:82201562:G:A p.(Arg128Cys) NC_000017.11:82201562:G:A Identity +NM_001037162.1:c.80T>A NP_001032239.1:p.Met27Lys NC_000014.9:73619294:T:A p.(Met27Lys) NC_000014.9:73619294:T:A p.(Met27Lys) NC_000014.9:73619294:T:A Identity +NM_001032999.3:c.940A>C NP_001028171.1:p.Ser314Arg NC_000020.11:33625010:A:C p.(Ser314Arg) NC_000020.11:33625010:A:C p.(Ser314Arg) NC_000020.11:33625010:A:C Identity +NM_001146197.3:c.8887C>T NP_001139669.1:p.Leu2963Phe NC_000013.11:102741809:G:A p.(Leu2963Phe) NC_000013.11:102741809:G:A p.(Leu2963Phe) NC_000013.11:102741809:G:A Identity +NM_001303494.2:c.793C>T NP_001290423.1:p.Pro265Ser NC_000022.11:38866600:G:A p.(Pro265Ser) NC_000022.11:38866600:G:A p.(Pro265Ser) NC_000022.11:38866600:G:A Identity +NM_001195200.2:c.593C>T NP_001182129.1:p.Ala198Val NC_000009.12:35661008:C:T p.(Ala198Val) NC_000009.12:35661008:C:T p.(Ala198Val) NC_000009.12:35661008:C:T Identity +NM_001101667.2:c.718C>T NP_001095137.1:p.Pro240Ser NC_000004.12:8406012:G:A p.(Pro240Ser) NC_000004.12:8406012:G:A p.(Pro240Ser) NC_000004.12:8406012:G:A Identity +NM_001146197.3:c.20218A>C NP_001139669.1:p.Asn6740His NC_000013.11:102730478:T:G p.(Asn6740His) NC_000013.11:102730478:T:G p.(Asn6740His) NC_000013.11:102730478:T:G Identity +NM_001146197.3:c.3385C>G NP_001139669.1:p.Gln1129Glu NC_000013.11:102747311:G:C p.(Gln1129Glu) NC_000013.11:102747311:G:C p.(Gln1129Glu) NC_000013.11:102747311:G:C Identity +NM_001146197.3:c.8246C>A NP_001139669.1:p.Ala2749Glu NC_000013.11:102742450:G:T p.(Ala2749Glu) NC_000013.11:102742450:G:T p.(Ala2749Glu) NC_000013.11:102742450:G:T Identity +NM_001198910.2:c.1280C>G NP_001185839.1:p.Thr427Ser NC_000013.11:36170738:G:C p.(Thr427Ser) NC_000013.11:36170738:G:C p.(Thr427Ser) NC_000013.11:36170738:G:C Identity +NM_001198910.2:c.1357G>A NP_001185839.1:p.Asp453Asn NC_000013.11:36170661:C:T p.(Asp453Asn) NC_000013.11:36170661:C:T p.(Asp453Asn) NC_000013.11:36170661:C:T Identity +NM_001198910.2:c.907A>T NP_001185839.1:p.Thr303Ser NC_000013.11:36174834:T:A p.(Thr303Ser) NC_000013.11:36174834:T:A p.(Thr303Ser) NC_000013.11:36174834:T:A Identity +NM_001349127.2:c.814G>A NP_001336056.1:p.Glu272Lys NC_000001.11:43996053:G:A p.(Glu272Lys) NC_000001.11:43996053:G:A p.(Glu272Lys) NC_000001.11:43996053:G:A Identity +NM_032600.3:c.693C>G NP_115989.1:p.Ser231Arg NC_000003.12:107378279:C:G p.(Ser231Arg) NC_000003.12:107378279:C:G p.(Ser231Arg) NC_000003.12:107378279:C:G Identity +NM_001012506.5:c.1925G>A NP_001012524.4:p.Arg642Gln NC_000003.12:56617294:G:A p.(Arg642Gln) NC_000003.12:56617294:G:A p.(Arg642Gln) NC_000003.12:56617294:G:A Identity +NM_001012506.5:c.2714A>C NP_001012524.4:p.Asn905Thr NC_000003.12:56621586:A:C p.(Asn905Thr) NC_000003.12:56621586:A:C p.(Asn905Thr) NC_000003.12:56621586:A:C Identity +NM_015621.3:c.326G>A NP_056436.2:p.Arg109Gln NC_000005.10:151187452:C:T p.(Arg109Gln) NC_000005.10:151187452:C:T p.(Arg109Gln) NC_000005.10:151187452:C:T Identity +NM_001135597.2:c.79C>T NP_001129069.1:p.Pro27Ser NC_000002.12:55418900:G:A p.(Pro27Ser) NC_000002.12:55418900:G:A p.(Pro27Ser) NC_000002.12:55418900:G:A Identity +NM_001286116.2:c.185G>C NP_001273045.2:p.Arg62Thr NC_000011.10:83273844:C:G p.(Arg62Thr) NC_000011.10:83273844:C:G p.(Arg62Thr) NC_000011.10:83273844:C:G Identity +NM_002989.4:c.362G>T NP_002980.1:p.Gly121Val NC_000009.12:34709508:C:A p.(Gly121Val) NC_000009.12:34709508:C:A p.(Gly121Val) NC_000009.12:34709508:C:A Identity +NM_001201359.2:c.53C>T NP_001188288.1:p.Ala18Val NC_000019.10:8053101:C:T p.(Ala18Val) NC_000019.10:8053101:C:T p.(Ala18Val) NC_000019.10:8053101:C:T Identity +NM_001354844.2:c.1087G>A NP_001341773.1:p.Val363Ile NC_000005.10:69177526:G:A p.(Val363Ile) NC_000005.10:69177526:G:A p.(Val363Ile) NC_000005.10:69177526:G:A Identity +NM_178499.5:c.408C>G NP_848594.2:p.Ile136Met NC_000012.12:119479159:C:G p.(Ile136Met) NC_000012.12:119479159:C:G p.(Ile136Met) NC_000012.12:119479159:C:G Identity +NM_201435.5:c.408A>C NP_958843.2:p.Glu136Asp NC_000012.12:122785729:A:C p.(Glu136Asp) NC_000012.12:122785729:A:C p.(Glu136Asp) NC_000012.12:122785729:A:C Identity +NM_018219.3:c.907T>A NP_060689.2:p.Cys303Ser NC_000011.10:66592108:A:T p.(Cys303Ser) NC_000011.10:66592108:A:T p.(Cys303Ser) NC_000011.10:66592108:A:T Identity +NM_021825.5:c.236A>G NP_068597.2:p.Gln79Arg NC_000011.10:83278813:T:C p.(Gln79Arg) NC_000011.10:83278813:T:C p.(Gln79Arg) NC_000011.10:83278813:T:C Identity +NM_001204450.2:c.2351G>A NP_001191379.1:p.Gly784Asp NC_000015.10:55356292:C:T p.(Gly784Asp) NC_000015.10:55356292:C:T p.(Gly784Asp) NC_000015.10:55356292:C:T Identity +NM_001286341.2:c.1261G>T NP_001273270.1:p.Val421Phe NC_000013.11:45714366:G:T p.(Val421Phe) NC_000013.11:45714366:G:T p.(Val421Phe) NC_000013.11:45714366:G:T Identity +NM_001284263.2:c.619T>A NP_001271192.1:p.Ser207Thr NC_000022.11:28786158:T:A p.(Ser207Thr) NC_000022.11:28786158:T:A p.(Ser207Thr) NC_000022.11:28786158:T:A Identity +NM_001382000.1:c.98G>A NP_001368929.1:p.Gly33Glu NC_000017.11:16690497:G:A p.(Gly33Glu) NC_000017.11:16690497:G:A p.(Gly33Glu) NC_000017.11:16690497:G:A Identity +NM_001146197.3:c.20119C>T NP_001139669.1:p.His6707Tyr NC_000013.11:102730577:G:A p.(His6707Tyr) NC_000013.11:102730577:G:A p.(His6707Tyr) NC_000013.11:102730577:G:A Identity +NM_001114938.3:c.371A>G NP_001108410.2:p.Gln124Arg NC_000001.11:45623338:T:C p.(Gln124Arg) NC_000001.11:45623338:T:C p.(Gln124Arg) NC_000001.11:45623338:T:C Identity +NM_033068.3:c.424C>T NP_149059.1:p.His142Tyr NC_000019.10:50791775:C:T p.(His142Tyr) NC_000019.10:50791775:C:T p.(His142Tyr) NC_000019.10:50791775:C:T Identity +NM_025055.5:c.520A>G NP_079331.3:p.Ile174Val NC_000015.10:74268431:A:G p.(Ile174Val) NC_000015.10:74268431:A:G p.(Ile174Val) NC_000015.10:74268431:A:G Identity +NM_001004318.3:c.767T>C NP_001004318.2:p.Leu256Ser NC_000019.10:39100812:T:C p.(Leu256Ser) NC_000019.10:39100812:T:C p.(Leu256Ser) NC_000019.10:39100812:T:C Identity +NM_181426.2:c.853G>T NP_852091.1:p.Val285Leu NC_000003.12:180654838:C:A p.(Val285Leu) NC_000003.12:180654838:C:A p.(Val285Leu) NC_000003.12:180654838:C:A Identity +NM_005436.5:c.843A>C NP_005427.2:p.Leu281Phe NC_000010.11:59812638:T:G p.(Leu281Phe) NC_000010.11:59812638:T:G p.(Leu281Phe) NC_000010.11:59812638:T:G Identity +NM_001199377.2:c.1499G>A NP_001186306.1:p.Arg500Gln NC_000015.10:78178804:C:T p.(Arg500Gln) NC_000015.10:78178804:C:T p.(Arg500Gln) NC_000015.10:78178804:C:T Identity +NM_001199377.2:c.690A>G NP_001186306.1:p.Ile230Met NC_000015.10:78182746:T:C p.(Ile230Met) NC_000015.10:78182746:T:C p.(Ile230Met) NC_000015.10:78182746:T:C Identity +NM_032251.6:c.4253G>A NP_115627.6:p.Arg1418Gln NC_000011.10:64355346:G:A p.(Arg1418Gln) NC_000011.10:64355346:G:A p.(Arg1418Gln) NC_000011.10:64355346:G:A Identity +NM_001286116.2:c.91A>C NP_001273045.2:p.Ser31Arg NC_000011.10:83274670:T:G p.(Ser31Arg) NC_000011.10:83274670:T:G p.(Ser31Arg) NC_000011.10:83274670:T:G Identity +NM_001330367.2:c.663G>C NP_001317296.1:p.Arg221Ser NC_000012.12:28450168:G:C p.(Arg221Ser) NC_000012.12:28450168:G:C p.(Arg221Ser) NC_000012.12:28450168:G:C Identity +NM_001304957.2:c.502A>C NP_001291886.1:p.Lys168Gln NC_000012.12:123937551:T:G p.(Lys168Gln) NC_000012.12:123937551:T:G p.(Lys168Gln) NC_000012.12:123937551:T:G Identity +NM_005893.3:c.662A>G NP_005884.2:p.Asn221Ser NC_000009.12:36170163:A:G p.(Asn221Ser) NC_000009.12:36170163:A:G p.(Asn221Ser) NC_000009.12:36170163:A:G Identity +NM_001901.4:c.227C>T NP_001892.2:p.Pro76Leu NC_000006.12:131950831:G:A p.(Pro76Leu) NC_000006.12:131950831:G:A p.(Pro76Leu) NC_000006.12:131950831:G:A Identity +NM_001901.4:c.904C>G NP_001892.2:p.Pro302Ala NC_000006.12:131949409:G:C p.(Pro302Ala) NC_000006.12:131949409:G:C p.(Pro302Ala) NC_000006.12:131949409:G:C Identity +NM_001204869.2:c.335T>G NP_001191798.1:p.Ile112Arg NC_000008.11:133213128:T:G p.(Ile112Arg) NC_000008.11:133213128:T:G p.(Ile112Arg) NC_000008.11:133213128:T:G Identity +NM_001199022.3:c.1130G>A NP_001185951.2:p.Arg377Gln NC_000016.10:19536798:G:A p.(Arg377Gln) NC_000016.10:19536798:G:A p.(Arg377Gln) NC_000016.10:19536798:G:A Identity +NM_000014.6:c.1373T>G NP_000005.3:p.Phe458Cys NC_000012.12:9101567:A:C p.(Phe458Cys) NC_000012.12:9101567:A:C p.(Phe458Cys) NC_000012.12:9101567:A:C Identity +NM_001284240.2:c.842A>G NP_001271169.1:p.Asn281Ser NC_000010.11:84371893:A:G p.(Asn281Ser) NC_000010.11:84371893:A:G p.(Asn281Ser) NC_000010.11:84371893:A:G Identity +NM_001282907.2:c.32A>T NP_001269836.1:p.Tyr11Phe NC_000021.9:29070308:T:A p.(Tyr11Phe) NC_000021.9:29070308:T:A p.(Tyr11Phe) NC_000021.9:29070308:T:A Identity +NM_001166663.2:c.632C>A NP_001160135.1:p.Thr211Asn NC_000001.11:160841247:G:T p.(Thr211Asn) NC_000001.11:160841247:G:T p.(Thr211Asn) NC_000001.11:160841247:G:T Identity +NM_001024736.2:c.152C>T NP_001019907.1:p.Ser51Phe NC_000015.10:73702326:C:T p.(Ser51Phe) NC_000015.10:73702326:C:T p.(Ser51Phe) NC_000015.10:73702326:C:T Identity +NM_001115152.2:c.166G>A NP_001108624.1:p.Ala56Thr NC_000017.11:74588723:C:T p.(Ala56Thr) NC_000017.11:74588723:C:T p.(Ala56Thr) NC_000017.11:74588723:C:T Identity +NM_000072.3:c.1231G>A NP_000063.2:p.Val411Met NC_000007.14:80673385:G:A p.(Val411Met) NC_000007.14:80673385:G:A p.(Val411Met) NC_000007.14:80673385:G:A Identity +NM_001040031.2:c.637C>T NP_001035120.1:p.Arg213Cys NC_000019.10:49340322:C:T p.(Arg213Cys) NC_000019.10:49340322:C:T p.(Arg213Cys) NC_000019.10:49340322:C:T Identity +NM_001198910.2:c.1174T>C NP_001185839.1:p.Cys392Arg NC_000013.11:36173748:A:G p.(Cys392Arg) NC_000013.11:36173748:A:G p.(Cys392Arg) NC_000013.11:36173748:A:G Identity +NM_001348002.2:c.862G>A NP_001334931.1:p.Val288Ile NC_000009.12:15678821:G:A p.(Val288Ile) NC_000009.12:15678821:G:A p.(Val288Ile) NC_000009.12:15678821:G:A Identity +NM_001300968.1:c.977T>C NP_001287897.1:p.Ile326Thr NC_000001.11:169421453:A:G p.(Ile326Thr) NC_000001.11:169421453:A:G p.(Ile326Thr) NC_000001.11:169421453:A:G Identity +NM_001039374.5:c.1510G>A NP_001034463.4:p.Asp504Asn NC_000009.12:136807594:G:A p.(Asp504Asn) NC_000009.12:136807594:G:A p.(Asp504Asn) NC_000009.12:136807594:G:A Identity +NM_020198.3:c.74T>C NP_064583.2:p.Phe25Ser NC_000017.11:63766101:A:G p.(Phe25Ser) NC_000017.11:63766101:A:G p.(Phe25Ser) NC_000017.11:63766101:A:G Identity +NM_001012506.5:c.556G>C NP_001012524.4:p.Val186Leu NC_000003.12:56566706:G:C p.(Val186Leu) NC_000003.12:56566706:G:C p.(Val186Leu) NC_000003.12:56566706:G:C Identity +NM_001258304.3:c.970G>T NP_001245233.1:p.Val324Phe NC_000002.12:131533040:G:T p.(Val324Phe) NC_000002.12:131533040:G:T p.(Val324Phe) NC_000002.12:131533040:G:T Identity +NM_032040.5:c.40C>A NP_114429.2:p.Pro14Thr NC_000019.10:46412770:G:T p.(Pro14Thr) NC_000019.10:46412770:G:T p.(Pro14Thr) NC_000019.10:46412770:G:T Identity +NM_032251.6:c.7G>A NP_115627.6:p.Gly3Arg NC_000011.10:64340272:G:A p.(Gly3Arg) NC_000011.10:64340272:G:A p.(Gly3Arg) NC_000011.10:64340272:G:A Identity +NM_001288968.2:c.43G>C NP_001275897.1:p.Ala15Pro NC_000017.11:50426303:G:C p.(Ala15Pro) NC_000017.11:50426303:G:C p.(Ala15Pro) NC_000017.11:50426303:G:C Identity +NM_001080414.4:c.5983G>T NP_001073883.2:p.Ala1995Ser NC_000014.9:91272728:C:A p.(Ala1995Ser) NC_000014.9:91272728:C:A p.(Ala1995Ser) NC_000014.9:91272728:C:A Identity +NM_001080414.4:c.71T>C NP_001073883.2:p.Phe24Ser NC_000014.9:91416827:A:G p.(Phe24Ser) NC_000014.9:91416827:A:G p.(Phe24Ser) NC_000014.9:91416827:A:G Identity +NM_001127214.4:c.1355G>T NP_001120686.1:p.Trp452Leu NC_000016.10:89133250:G:T p.(Trp452Leu) NC_000016.10:89133250:G:T p.(Trp452Leu) NC_000016.10:89133250:G:T Identity +NM_005893.3:c.1430A>G NP_005884.2:p.Asn477Ser NC_000009.12:36170931:A:G p.(Asn477Ser) NC_000009.12:36170931:A:G p.(Asn477Ser) NC_000009.12:36170931:A:G Identity +NM_001901.4:c.90C>G NP_001892.2:p.Ser30Arg NC_000006.12:131950968:G:C p.(Ser30Arg) NC_000006.12:131950968:G:C p.(Ser30Arg) NC_000006.12:131950968:G:C Identity +NM_033031.3:c.140A>G NP_149020.2:p.Gln47Arg NC_000023.11:50288822:A:G p.(Gln47Arg) NC_000023.11:50288822:A:G p.(Gln47Arg) NC_000023.11:50288822:A:G Identity +NM_001039780.4:c.308C>G NP_001034869.1:p.Pro103Arg NC_000005.10:132747802:C:G p.(Pro103Arg) NC_000005.10:132747802:C:G p.(Pro103Arg) NC_000005.10:132747802:C:G Identity +NM_001308173.3:c.437C>T NP_001295102.1:p.Thr146Met NC_000005.10:160259614:G:A p.(Thr146Met) NC_000005.10:160259614:G:A p.(Thr146Met) NC_000005.10:160259614:G:A Identity +NM_001308173.3:c.442G>A NP_001295102.1:p.Ala148Thr NC_000005.10:160259609:C:T p.(Ala148Thr) NC_000005.10:160259609:C:T p.(Ala148Thr) NC_000005.10:160259609:C:T Identity +NM_001039577.5:c.76G>T NP_001034666.1:p.Gly26Trp NC_000001.11:1399230:C:A p.(Gly26Trp) NC_000001.11:1399230:C:A p.(Gly26Trp) NC_000001.11:1399230:C:A Identity +NM_001256111.3:c.2254C>T NP_001243040.1:p.Arg752Cys NC_000001.11:117025519:C:T p.(Arg752Cys) NC_000001.11:117025519:C:T p.(Arg752Cys) NC_000001.11:117025519:C:T Identity +NM_001004196.4:c.857G>A NP_001004196.2:p.Arg286His NC_000003.12:112349798:G:A p.(Arg286His) NC_000003.12:112349798:G:A p.(Arg286His) NC_000003.12:112349798:G:A Identity +NM_138806.4:c.172A>G NP_620161.1:p.Thr58Ala NC_000003.12:112931135:T:C p.(Thr58Ala) NC_000003.12:112931135:T:C p.(Thr58Ala) NC_000003.12:112931135:T:C Identity +NM_001185100.2:c.1228G>A NP_001172029.1:p.Gly410Arg NC_000019.10:35338409:G:A p.(Gly410Arg) NC_000019.10:35338409:G:A p.(Gly410Arg) NC_000019.10:35338409:G:A Identity +NM_001040059.2:c.952C>T NP_001035148.1:p.Arg318Trp NC_000017.11:7581478:C:T p.(Arg318Trp) NC_000017.11:7581478:C:T p.(Arg318Trp) NC_000017.11:7581478:C:T Identity +NM_001308173.3:c.253G>A NP_001295102.1:p.Val85Met NC_000005.10:160280551:C:T p.(Val85Met) NC_000005.10:160280551:C:T p.(Val85Met) NC_000005.10:160280551:C:T Identity +NM_001130997.3:c.676G>A NP_001124469.1:p.Glu226Lys NC_000023.11:153588375:C:T p.(Glu226Lys) NC_000023.11:153588375:C:T p.(Glu226Lys) NC_000023.11:153588375:C:T Identity +NM_001284240.2:c.1928T>C NP_001271169.1:p.Phe643Ser NC_000010.11:84438570:T:C p.(Phe643Ser) NC_000010.11:84438570:T:C p.(Phe643Ser) NC_000010.11:84438570:T:C Identity +NM_001008800.3:c.253A>G NP_001008800.1:p.Ile85Val NC_000001.11:156325026:T:C p.(Ile85Val) NC_000001.11:156325026:T:C p.(Ile85Val) NC_000001.11:156325026:T:C Identity +NM_001256106.3:c.1594G>C NP_001243035.1:p.Val532Leu NC_000001.11:117017454:G:C p.(Val532Leu) NC_000001.11:117017454:G:C p.(Val532Leu) NC_000001.11:117017454:G:C Identity +NM_001308172.2:c.178G>A NP_001295101.1:p.Ala60Thr NC_000016.10:20465516:G:A p.(Ala60Thr) NC_000016.10:20465516:G:A p.(Ala60Thr) NC_000016.10:20465516:G:A Identity +NM_001004196.4:c.143C>T NP_001004196.2:p.Ala48Val NC_000003.12:112340956:C:T p.(Ala48Val) NC_000003.12:112340956:C:T p.(Ala48Val) NC_000003.12:112340956:C:T Identity +NM_001042583.3:c.758G>T NP_001036048.1:p.Gly253Val NC_000001.11:158355958:G:T p.(Gly253Val) NC_000001.11:158355958:G:T p.(Gly253Val) NC_000001.11:158355958:G:T Identity +NM_001168322.2:c.100T>C NP_001161794.1:p.Ser34Pro NC_000017.11:43848613:T:C p.(Ser34Pro) NC_000017.11:43848613:T:C p.(Ser34Pro) NC_000017.11:43848613:T:C Identity +NM_001330312.2:c.79C>T NP_001317241.1:p.Leu27Phe NC_000012.12:6233423:C:T p.(Leu27Phe) NC_000012.12:6233423:C:T p.(Leu27Phe) NC_000012.12:6233423:C:T Identity +NM_001145734.2:c.1094C>T NP_001139206.2:p.Pro365Leu NC_000005.10:55124923:G:A p.(Pro365Leu) NC_000005.10:55124923:G:A p.(Pro365Leu) NC_000005.10:55124923:G:A Identity +NM_001024844.2:c.419T>G NP_001020015.1:p.Met140Arg NC_000011.10:44618216:T:G p.(Met140Arg) NC_000011.10:44618216:T:G p.(Met140Arg) NC_000011.10:44618216:T:G Identity +NM_001255.3:c.1295C>T NP_001246.2:p.Thr432Ile NC_000001.11:43362285:C:T p.(Thr432Ile) NC_000001.11:43362285:C:T p.(Thr432Ile) NC_000001.11:43362285:C:T Identity +NM_001366010.2:c.2936T>C NP_001352939.1:p.Phe979Ser NC_000001.11:227040204:A:G p.(Phe979Ser) NC_000001.11:227040204:A:G p.(Phe979Ser) NC_000001.11:227040204:A:G Identity +NM_001252.5:c.260A>G NP_001243.1:p.His87Arg NC_000019.10:6586341:T:C p.(His87Arg) NC_000019.10:6586341:T:C p.(His87Arg) NC_000019.10:6586341:T:C Identity +NM_001242614.2:c.415C>T NP_001229543.1:p.Arg139Cys NC_000023.11:150795232:G:A p.(Arg139Cys) NC_000023.11:150795232:G:A p.(Arg139Cys) NC_000023.11:150795232:G:A Identity +NM_001287582.2:c.1196A>G NP_001274511.1:p.Asn399Ser NC_000005.10:138286097:T:C p.(Asn399Ser) NC_000005.10:138286097:T:C p.(Asn399Ser) NC_000005.10:138286097:T:C Identity +NM_001366010.2:c.1075A>G NP_001352939.1:p.Ile359Val NC_000001.11:227145556:T:C p.(Ile359Val) NC_000001.11:227145556:T:C p.(Ile359Val) NC_000001.11:227145556:T:C Identity +NM_001184808.2:c.308C>G NP_001171737.1:p.Pro103Arg NC_000023.11:150777451:G:C p.(Pro103Arg) NC_000023.11:150777451:G:C p.(Pro103Arg) NC_000023.11:150777451:G:C Identity +NM_145057.4:c.140C>T NP_659494.2:p.Ser47Leu NC_000019.10:54465407:G:A p.(Ser47Leu) NC_000019.10:54465407:G:A p.(Ser47Leu) NC_000019.10:54465407:G:A Identity +NM_001317227.2:c.2171A>C NP_001304156.1:p.Asn724Thr NC_000005.10:21751950:T:G p.(Asn724Thr) NC_000005.10:21751950:T:G p.(Asn724Thr) NC_000005.10:21751950:T:G Identity +NM_012121.5:c.161A>G NP_036253.2:p.Asn54Ser NC_000017.11:73286339:T:C p.(Asn54Ser) NC_000017.11:73286339:T:C p.(Asn54Ser) NC_000017.11:73286339:T:C Identity +NM_012121.5:c.47G>A NP_036253.2:p.Arg16His NC_000017.11:73286453:C:T p.(Arg16His) NC_000017.11:73286453:C:T p.(Arg16His) NC_000017.11:73286453:C:T Identity +NM_017525.3:c.904C>T NP_059995.2:p.Pro302Ser NC_000011.10:64838874:G:A p.(Pro302Ser) NC_000011.10:64838874:G:A p.(Pro302Ser) NC_000011.10:64838874:G:A Identity +NM_001317906.1:c.1696A>G NP_001304835.1:p.Arg566Gly NC_000008.11:25503441:A:G p.(Arg566Gly) NC_000008.11:25503441:A:G p.(Arg566Gly) NC_000008.11:25503441:A:G Identity +NM_001353655.3:c.442G>A NP_001340584.1:p.Val148Ile NC_000001.11:54141418:C:T p.(Val148Ile) NC_000001.11:54141418:C:T p.(Val148Ile) NC_000001.11:54141418:C:T Identity +NM_001317222.2:c.286A>G NP_001304151.1:p.Ile96Val NC_000005.10:24487961:T:C p.(Ile96Val) NC_000005.10:24487961:T:C p.(Ile96Val) NC_000005.10:24487961:T:C Identity +NM_001271028.2:c.1013A>T NP_001257957.1:p.Asn338Ile NC_000018.10:66544171:T:A p.(Asn338Ile) NC_000018.10:66544171:T:A p.(Asn338Ile) NC_000018.10:66544171:T:A Identity +NM_177980.4:c.1675G>C NP_817089.1:p.Val559Leu NC_000020.11:59995840:G:C p.(Val559Leu) NC_000020.11:59995840:G:C p.(Val559Leu) NC_000020.11:59995840:G:C Identity +NM_001171976.2:c.3532C>T NP_001165447.1:p.Arg1178Trp NC_000005.10:176590679:C:T p.(Arg1178Trp) NC_000005.10:176590679:C:T p.(Arg1178Trp) NC_000005.10:176590679:C:T Identity +NM_001261435.1:c.917T>A NP_001248364.1:p.Ile306Asn NC_000002.12:201847445:T:A p.(Ile306Asn) NC_000002.12:201847445:T:A p.(Ile306Asn) NC_000002.12:201847445:T:A Identity +NM_004933.3:c.1606C>A NP_004924.1:p.Gln536Lys NC_000016.10:89191884:C:A p.(Gln536Lys) NC_000016.10:89191884:C:A p.(Gln536Lys) NC_000016.10:89191884:C:A Identity +NM_001330242.2:c.83G>T NP_001317171.1:p.Arg28Leu NC_000012.12:81078202:G:T p.(Arg28Leu) NC_000012.12:81078202:G:T p.(Arg28Leu) NC_000012.12:81078202:G:T Identity +NM_001795.5:c.2006G>A NP_001786.2:p.Gly669Asp NC_000016.10:66402819:G:A p.(Gly669Asp) NC_000016.10:66402819:G:A p.(Gly669Asp) NC_000016.10:66402819:G:A Identity +NM_003936.5:c.347G>A NP_003927.1:p.Gly116Asp NC_000002.12:218960166:G:A p.(Gly116Asp) NC_000002.12:218960166:G:A p.(Gly116Asp) NC_000002.12:218960166:G:A Identity +NM_001113575.2:c.443G>A NP_001107047.1:p.Arg148Gln NC_000005.10:134350344:C:T p.(Arg148Gln) NC_000005.10:134350344:C:T p.(Arg148Gln) NC_000005.10:134350344:C:T Identity +NM_001287135.2:c.614C>T NP_001274064.1:p.Thr205Met NC_000007.14:90863243:C:T p.(Thr205Met) NC_000007.14:90863243:C:T p.(Thr205Met) NC_000007.14:90863243:C:T Identity +NM_001039803.3:c.827G>A NP_001034892.1:p.Arg276His NC_000009.12:87969209:C:T p.(Arg276His) NC_000009.12:87969209:C:T p.(Arg276His) NC_000009.12:87969209:C:T Identity +NM_001172648.4:c.1103G>T NP_001166119.1:p.Arg368Leu NC_000001.11:151705847:C:A p.(Arg368Leu) NC_000001.11:151705847:C:A p.(Arg368Leu) NC_000001.11:151705847:C:A Identity +NM_006687.4:c.787G>A NP_006678.1:p.Glu263Lys NC_000009.12:108863108:G:A p.(Glu263Lys) NC_000009.12:108863108:G:A p.(Glu263Lys) NC_000009.12:108863108:G:A Identity +NM_015083.4:c.3983C>T NP_055898.1:p.Thr1328Ile NC_000017.11:39530852:C:T p.(Thr1328Ile) NC_000017.11:39530852:C:T p.(Thr1328Ile) NC_000017.11:39530852:C:T Identity +NM_001286668.2:c.308G>A NP_001273597.1:p.Gly103Glu NC_000004.12:56378207:C:T p.(Gly103Glu) NC_000004.12:56378207:C:T p.(Gly103Glu) NC_000004.12:56378207:C:T Identity +NM_001278167.2:c.1601T>C NP_001265096.1:p.Phe534Ser NC_000020.11:33360429:A:G p.(Phe534Ser) NC_000020.11:33360429:A:G p.(Phe534Ser) NC_000020.11:33360429:A:G Identity +NM_017632.4:c.1100C>T NP_060102.1:p.Ala367Val NC_000004.12:183446783:C:T p.(Ala367Val) NC_000004.12:183446783:C:T p.(Ala367Val) NC_000004.12:183446783:C:T Identity +NM_001407.3:c.7097C>T NP_001398.2:p.Pro2366Leu NC_000003.12:48647872:G:A p.(Pro2366Leu) NC_000003.12:48647872:G:A p.(Pro2366Leu) NC_000003.12:48647872:G:A Identity +NM_001407.3:c.9145C>T NP_001398.2:p.Arg3049Cys NC_000003.12:48640439:G:A p.(Arg3049Cys) NC_000003.12:48640439:G:A p.(Arg3049Cys) NC_000003.12:48640439:G:A Identity +NM_052988.5:c.170G>A NP_443714.3:p.Arg57Gln NC_000016.10:89690561:G:A p.(Arg57Gln) NC_000016.10:89690561:G:A p.(Arg57Gln) NC_000016.10:89690561:G:A Identity +NM_001039803.3:c.628A>C NP_001034892.1:p.Ile210Leu NC_000009.12:87969854:T:G p.(Ile210Leu) NC_000009.12:87969854:T:G p.(Ile210Leu) NC_000009.12:87969854:T:G Identity +NM_001807.6:c.1802C>G NP_001798.3:p.Ala601Gly NC_000009.12:133071303:C:G p.(Ala601Gly) NC_000009.12:133071303:C:G p.(Ala601Gly) NC_000009.12:133071303:C:G Identity +NM_001172648.4:c.826G>A NP_001166119.1:p.Ala276Thr NC_000001.11:151706689:C:T p.(Ala276Thr) NC_000001.11:151706689:C:T p.(Ala276Thr) NC_000001.11:151706689:C:T Identity +NM_001408.3:c.1307A>G NP_001399.1:p.Tyr436Cys NC_000001.11:109251385:A:G p.(Tyr436Cys) NC_000001.11:109251385:A:G p.(Tyr436Cys) NC_000001.11:109251385:A:G Identity +NM_001166226.2:c.961T>A NP_001159698.1:p.Ser321Thr NC_000005.10:123390139:A:T p.(Ser321Thr) NC_000005.10:123390139:A:T p.(Ser321Thr) NC_000005.10:123390139:A:T Identity +NM_152446.5:c.1066C>T NP_689659.2:p.Arg356Trp NC_000014.9:80831285:G:A p.(Arg356Trp) NC_000014.9:80831285:G:A p.(Arg356Trp) NC_000014.9:80831285:G:A Identity +NM_001098506.4:c.7C>A NP_001091976.3:p.Pro3Thr NC_000019.10:41576280:C:A p.(Pro3Thr) NC_000019.10:41576280:C:A p.(Pro3Thr) NC_000019.10:41576280:C:A Identity +NM_015849.3:c.286G>A NP_056933.3:p.Gly96Ser NC_000001.11:15482322:G:A p.(Gly96Ser) NC_000001.11:15482322:G:A p.(Gly96Ser) NC_000001.11:15482322:G:A Identity +NM_003936.5:c.331C>G NP_003927.1:p.Pro111Ala NC_000002.12:218960150:C:G p.(Pro111Ala) NC_000002.12:218960150:C:G p.(Pro111Ala) NC_000002.12:218960150:C:G Identity +NM_001011649.3:c.731A>G NP_001011649.1:p.Lys244Arg NC_000009.12:120530071:T:C p.(Lys244Arg) NC_000009.12:120530071:T:C p.(Lys244Arg) NC_000009.12:120530071:T:C Identity +NM_001190790.2:c.702G>C NP_001177719.1:p.Lys234Asn NC_000017.11:20580584:G:C p.(Lys234Asn) NC_000017.11:20580584:G:C p.(Lys234Asn) NC_000017.11:20580584:G:C Identity +NM_033395.2:c.2378A>T NP_203753.1:p.His793Leu NC_000011.10:93697289:A:T p.(His793Leu) NC_000011.10:93697289:A:T p.(His793Leu) NC_000011.10:93697289:A:T Identity +NM_001104.4:c.434T>C NP_001095.2:p.Ile145Thr NC_000011.10:66554095:T:C p.(Ile145Thr) NC_000011.10:66554095:T:C p.(Ile145Thr) NC_000011.10:66554095:T:C Identity +NM_001407.3:c.769G>A NP_001398.2:p.Ala257Thr NC_000003.12:48661865:C:T p.(Ala257Thr) NC_000003.12:48661865:C:T p.(Ala257Thr) NC_000003.12:48661865:C:T Identity +NM_001135820.2:c.3659C>T NP_001129292.1:p.Pro1220Leu NC_000009.12:71690094:G:A p.(Pro1220Leu) NC_000009.12:71690094:G:A p.(Pro1220Leu) NC_000009.12:71690094:G:A Identity +NM_001135820.2:c.803A>G NP_001129292.1:p.Asn268Ser NC_000009.12:71745248:T:C p.(Asn268Ser) NC_000009.12:71745248:T:C p.(Asn268Ser) NC_000009.12:71745248:T:C Identity +NM_001293298.2:c.1537A>C NP_001280227.1:p.Asn513His NC_000015.10:80906787:A:C p.(Asn513His) NC_000015.10:80906787:A:C p.(Asn513His) NC_000015.10:80906787:A:C Identity +NM_005760.3:c.1798C>T NP_005751.2:p.Pro600Ser NC_000002.12:37223252:G:A p.(Pro600Ser) NC_000002.12:37223252:G:A p.(Pro600Ser) NC_000002.12:37223252:G:A Identity +NM_001278690.2:c.85G>T NP_001265619.1:p.Val29Phe NC_000006.12:166999496:G:T p.(Val29Phe) NC_000006.12:166999496:G:T p.(Val29Phe) NC_000006.12:166999496:G:T Identity +NM_032816.5:c.161C>T NP_116205.3:p.Ala54Val NC_000019.10:32960043:G:A p.(Ala54Val) NC_000019.10:32960043:G:A p.(Ala54Val) NC_000019.10:32960043:G:A Identity +NM_001278579.2:c.1483G>T NP_001265508.1:p.Val495Leu NC_000002.12:147927214:G:T p.(Val495Leu) NC_000002.12:147927214:G:T p.(Val495Leu) NC_000002.12:147927214:G:T Identity +NM_001362481.2:c.743G>A NP_001349410.1:p.Arg248Gln NC_000004.12:67518242:C:T p.(Arg248Gln) NC_000004.12:67518242:C:T p.(Arg248Gln) NC_000004.12:67518242:C:T Identity +NM_018451.5:c.1451A>G NP_060921.3:p.Gln484Arg NC_000013.11:24906586:T:C p.(Gln484Arg) NC_000013.11:24906586:T:C p.(Gln484Arg) NC_000013.11:24906586:T:C Identity +NM_018451.5:c.3346G>A NP_060921.3:p.Gly1116Ser NC_000013.11:24885625:C:T p.(Gly1116Ser) NC_000013.11:24885625:C:T p.(Gly1116Ser) NC_000013.11:24885625:C:T Identity +NM_001005386.3:c.167A>G NP_001005386.1:p.Lys56Arg NC_000002.12:65242055:A:G p.(Lys56Arg) NC_000002.12:65242055:A:G p.(Lys56Arg) NC_000002.12:65242055:A:G Identity +NM_001243768.2:c.180T>A NP_001230697.1:p.Asp60Glu NC_000001.11:10440379:T:A p.(Asp60Glu) NC_000001.11:10440379:T:A p.(Asp60Glu) NC_000001.11:10440379:T:A Identity +NM_001166226.2:c.1024A>G NP_001159698.1:p.Thr342Ala NC_000005.10:123390076:T:C p.(Thr342Ala) NC_000005.10:123390076:T:C p.(Thr342Ala) NC_000005.10:123390076:T:C Identity +NM_016343.4:c.3012A>G NP_057427.3:p.Ile1004Met NC_000001.11:214641349:A:G p.(Ile1004Met) NC_000001.11:214641349:A:G p.(Ile1004Met) NC_000001.11:214641349:A:G Identity +NM_001190200.1:c.1407C>T NP_001177129.1:p.Cys469= NC_000016.10:67008995:C:T ERR:Data provider error: ValueError: Transcript NM_001190200.1 not found ERR:Data provider error: ValueError: Transcript NM_001190200.1 not found ERR:AlignmentMapper(tx_ac=NM_001190200.1, alt_ac=NM_001190200.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001190200.1, alt_ac=NM_001190200.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001190200.1 not found +NM_001031743.3:c.545G>A NP_001026913.1:p.Arg182His NC_000006.12:87416740:G:A p.(Arg182His) NC_000006.12:87416740:G:A p.(Arg182His) NC_000006.12:87416740:G:A Identity +NM_001164458.2:c.554C>T NP_001157930.1:p.Pro185Leu NC_000007.14:150284762:G:A p.(Pro185Leu) NC_000007.14:150284762:G:A p.(Pro185Leu) NC_000007.14:150284762:G:A Identity +NM_152446.5:c.515G>A NP_689659.2:p.Ser172Asn NC_000014.9:80899994:C:T p.(Ser172Asn) NC_000014.9:80899994:C:T p.(Ser172Asn) NC_000014.9:80899994:C:T Identity +NM_001009811.4:c.2219G>A NP_001009811.2:p.Arg740Gln NC_000017.11:81194027:C:T p.(Arg740Gln) NC_000017.11:81194027:C:T p.(Arg740Gln) NC_000017.11:81194027:C:T Identity +NM_001042404.2:c.3214A>G NP_001035863.1:p.Thr1072Ala NC_000001.11:243164451:T:C p.(Thr1072Ala) NC_000001.11:243164451:T:C p.(Thr1072Ala) NC_000001.11:243164451:T:C Identity +NM_001112726.3:c.1306C>T NP_001106197.1:p.Arg436Cys NC_000014.9:104884084:C:T p.(Arg436Cys) NC_000014.9:104884084:C:T p.(Arg436Cys) NC_000014.9:104884084:C:T Identity +NM_001178003.2:c.1645T>G NP_001171474.1:p.Phe549Val NC_000012.12:121957182:T:G p.(Phe549Val) NC_000012.12:121957182:T:G p.(Phe549Val) NC_000012.12:121957182:T:G Identity +NM_015585.4:c.2879G>A NP_056400.3:p.Arg960Gln NC_000020.11:20288690:G:A p.(Arg960Gln) NC_000020.11:20288690:G:A p.(Arg960Gln) NC_000020.11:20288690:G:A Identity +NM_001408.3:c.3917G>A NP_001399.1:p.Arg1306His NC_000001.11:109259037:G:A p.(Arg1306His) NC_000001.11:109259037:G:A p.(Arg1306His) NC_000001.11:109259037:G:A Identity +NM_001407.3:c.1411C>T NP_001398.2:p.Arg471Cys NC_000003.12:48661223:G:A p.(Arg471Cys) NC_000003.12:48661223:G:A p.(Arg471Cys) NC_000003.12:48661223:G:A Identity +NM_001322033.2:c.1606C>T NP_001308962.1:p.Arg536Cys NC_000019.10:38723990:C:T p.(Arg536Cys) NC_000019.10:38723990:C:T p.(Arg536Cys) NC_000019.10:38723990:C:T Identity +NM_001135820.2:c.65G>A NP_001129292.1:p.Arg22His NC_000009.12:71750308:C:T p.(Arg22His) NC_000009.12:71750308:C:T p.(Arg22His) NC_000009.12:71750308:C:T Identity +NM_080431.5:c.1025G>T NP_536356.3:p.Trp342Leu NC_000001.11:3022710:G:T p.(Trp342Leu) NC_000001.11:3022710:G:T p.(Trp342Leu) NC_000001.11:3022710:G:T Identity +NM_001039706.3:c.2688C>G NP_001034795.2:p.Ser896Arg NC_000007.14:90310099:C:G p.(Ser896Arg) NC_000007.14:90310099:C:G p.(Ser896Arg) NC_000007.14:90310099:C:G Identity +NM_001348522.2:c.94G>A NP_001335451.1:p.Val32Ile NC_000003.12:128988750:C:T p.(Val32Ile) NC_000003.12:128988750:C:T p.(Val32Ile) NC_000003.12:128988750:C:T Identity +NM_001193282.4:c.1587G>C NP_001180211.2:p.Lys529Asn NC_000004.12:2460167:G:C p.(Lys529Asn) NC_000004.12:2460167:G:C p.(Lys529Asn) NC_000004.12:2460167:G:C Identity +NM_030787.4:c.1357C>T NP_110414.1:p.Pro453Ser NC_000001.11:197004686:C:T p.(Pro453Ser) NC_000001.11:197004686:C:T p.(Pro453Ser) NC_000001.11:197004686:C:T Identity +NM_001318933.2:c.581G>A NP_001305862.1:p.Cys194Tyr NC_000017.11:44774709:G:A p.(Cys194Tyr) NC_000017.11:44774709:G:A p.(Cys194Tyr) NC_000017.11:44774709:G:A Identity +NM_001009811.4:c.565C>G NP_001009811.2:p.Arg189Gly NC_000017.11:81203557:G:C p.(Arg189Gly) NC_000017.11:81203557:G:C p.(Arg189Gly) NC_000017.11:81203557:G:C Identity +NM_001112726.3:c.2669C>A NP_001106197.1:p.Pro890Gln NC_000014.9:104886907:C:A p.(Pro890Gln) NC_000014.9:104886907:C:A p.(Pro890Gln) NC_000014.9:104886907:C:A Identity +NM_001112726.3:c.581G>A NP_001106197.1:p.Arg194His NC_000014.9:104883037:G:A p.(Arg194His) NC_000014.9:104883037:G:A p.(Arg194His) NC_000014.9:104883037:G:A Identity +NM_005763.4:c.1091A>G NP_005754.2:p.Glu364Gly NC_000007.14:122113672:T:C p.(Glu364Gly) NC_000007.14:122113672:T:C p.(Glu364Gly) NC_000007.14:122113672:T:C Identity +NM_138481.2:c.1642C>T NP_612490.1:p.Arg548Cys NC_000022.11:41237429:G:A p.(Arg548Cys) NC_000022.11:41237429:G:A p.(Arg548Cys) NC_000022.11:41237429:G:A Identity +NM_001288964.2:c.827A>G NP_001275893.1:p.His276Arg NC_000003.12:138525552:T:C p.(His276Arg) NC_000003.12:138525552:T:C p.(His276Arg) NC_000003.12:138525552:T:C Identity +NM_001286760.1:c.643G>C NP_001273689.1:p.Glu215Gln NC_000009.12:128428411:G:C p.(Glu215Gln) NC_000009.12:128428411:G:C p.(Glu215Gln) NC_000009.12:128428411:G:C Identity +NM_032142.4:c.7561G>A NP_115518.3:p.Glu2521Lys NC_000018.10:13124716:G:A p.(Glu2521Lys) NC_000018.10:13124716:G:A p.(Glu2521Lys) NC_000018.10:13124716:G:A Identity +NM_001286206.2:c.3548T>A NP_001273135.1:p.Leu1183His NC_000006.12:84146780:A:T p.(Leu1183His) NC_000006.12:84146780:A:T p.(Leu1183His) NC_000006.12:84146780:A:T Identity +NM_001042404.2:c.2189A>C NP_001035863.1:p.Glu730Ala NC_000001.11:243165476:T:G p.(Glu730Ala) NC_000001.11:243165476:T:G p.(Glu730Ala) NC_000001.11:243165476:T:G Identity +NM_001112726.3:c.1046T>C NP_001106197.1:p.Leu349Pro NC_000014.9:104883502:T:C p.(Leu349Pro) NC_000014.9:104883502:T:C p.(Leu349Pro) NC_000014.9:104883502:T:C Identity +NM_001112726.3:c.2441C>T NP_001106197.1:p.Ala814Val NC_000014.9:104886679:C:T p.(Ala814Val) NC_000014.9:104886679:C:T p.(Ala814Val) NC_000014.9:104886679:C:T Identity +NM_001261464.2:c.1817G>A NP_001248393.1:p.Arg606Gln NC_000001.11:155058310:G:A p.(Arg606Gln) NC_000001.11:155058310:G:A p.(Arg606Gln) NC_000001.11:155058310:G:A Identity +NM_032221.5:c.650C>G NP_115597.3:p.Thr217Arg NC_000020.11:41514856:G:C p.(Thr217Arg) NC_000020.11:41514856:G:C p.(Thr217Arg) NC_000020.11:41514856:G:C Identity +NM_001319100.2:c.2168G>A NP_001306029.1:p.Arg723His NC_000002.12:65082598:G:A p.(Arg723His) NC_000002.12:65082598:G:A p.(Arg723His) NC_000002.12:65082598:G:A Identity +NM_001319100.2:c.302G>T NP_001306029.1:p.Gly101Val NC_000002.12:65069745:G:T p.(Gly101Val) NC_000002.12:65069745:G:T p.(Gly101Val) NC_000002.12:65069745:G:T Identity +NM_001281517.3:c.518A>G NP_001268446.1:p.Glu173Gly NC_000001.11:26255632:A:G p.(Glu173Gly) NC_000001.11:26255632:A:G p.(Glu173Gly) NC_000001.11:26255632:A:G Identity +NM_001304497.2:c.208G>A NP_001291426.1:p.Ala70Thr NC_000016.10:15884025:C:T p.(Ala70Thr) NC_000016.10:15884025:C:T p.(Ala70Thr) NC_000016.10:15884025:C:T Identity +NM_080431.5:c.560G>A NP_536356.3:p.Arg187Lys NC_000001.11:3022245:G:A p.(Arg187Lys) NC_000001.11:3022245:G:A p.(Arg187Lys) NC_000001.11:3022245:G:A Identity +NM_145020.5:c.134A>G NP_659457.2:p.Gln45Arg NC_000018.10:50262154:T:C p.(Gln45Arg) NC_000018.10:50262154:T:C p.(Gln45Arg) NC_000018.10:50262154:T:C Identity +NM_001256126.2:c.181A>G NP_001243055.1:p.Lys61Glu NC_000002.12:168547605:A:G p.(Lys61Glu) NC_000002.12:168547605:A:G p.(Lys61Glu) NC_000002.12:168547605:A:G Identity +NM_001042475.3:c.654A>G NP_001035940.1:p.Ile218Met NC_000006.12:118565894:T:C p.(Ile218Met) NC_000006.12:118565894:T:C p.(Ile218Met) NC_000006.12:118565894:T:C Identity +NM_001316990.2:c.1309G>T NP_001303919.1:p.Ala437Ser NC_000017.11:64532966:G:T p.(Ala437Ser) NC_000017.11:64532966:G:T p.(Ala437Ser) NC_000017.11:64532966:G:T Identity +NM_000746.6:c.1345T>C NP_000737.1:p.Cys449Arg NC_000015.10:32168293:T:C p.(Cys449Arg) NC_000015.10:32168293:T:C p.(Cys449Arg) NC_000015.10:32168293:T:C Identity +NM_001144872.3:c.287A>G NP_001138344.1:p.Asn96Ser NC_000012.12:113153226:A:G p.(Asn96Ser) NC_000012.12:113153226:A:G p.(Asn96Ser) NC_000012.12:113153226:A:G Identity +NM_020827.3:c.1523G>C NP_065878.1:p.Arg508Pro NC_000004.12:185162873:C:G p.(Arg508Pro) NC_000004.12:185162873:C:G p.(Arg508Pro) NC_000004.12:185162873:C:G Identity +NM_001127895.2:c.565C>T NP_001121367.1:p.Arg189Cys NC_000019.10:33772352:C:T p.(Arg189Cys) NC_000019.10:33772352:C:T p.(Arg189Cys) NC_000019.10:33772352:C:T Identity +NM_001304815.2:c.4310A>G NP_001291744.1:p.Tyr1437Cys NC_000019.10:42290350:A:G p.(Tyr1437Cys) NC_000019.10:42290350:A:G p.(Tyr1437Cys) NC_000019.10:42290350:A:G Identity +NM_001410911.1:c.394C>G NP_001397840.1:p.Pro132Ala NC_000006.12:73451787:G:C p.(Pro132Ala) NC_000006.12:73451787:G:C p.(Pro132Ala) NC_000006.12:73451787:G:C Identity +NM_001288973.2:c.261A>C NP_001275902.1:p.Glu87Asp NC_000010.11:126155304:T:G p.(Glu87Asp) NC_000010.11:126155304:T:G p.(Glu87Asp) NC_000010.11:126155304:T:G Identity +NM_194302.4:c.98T>A NP_919278.2:p.Leu33His NC_000002.12:219038950:A:T p.(Leu33His) NC_000002.12:219038950:A:T p.(Leu33His) NC_000002.12:219038950:A:T Identity +NM_153221.2:c.3332G>A NP_694953.2:p.Arg1111Gln NC_000019.10:19545876:G:A p.(Arg1111Gln) NC_000019.10:19545876:G:A p.(Arg1111Gln) NC_000019.10:19545876:G:A Identity +NM_033426.3:c.740C>G NP_219494.2:p.Ser247Cys NC_000014.9:77113857:C:G p.(Ser247Cys) NC_000014.9:77113857:C:G p.(Ser247Cys) NC_000014.9:77113857:C:G Identity +NM_001308319.2:c.7487C>T NP_001295248.1:p.Thr2496Met NC_000016.10:53314946:C:T p.(Thr2496Met) NC_000016.10:53314946:C:T p.(Thr2496Met) NC_000016.10:53314946:C:T Identity +NM_001350933.2:c.1221G>C NP_001337862.1:p.Leu407Phe NC_000010.11:73310192:C:G p.(Leu407Phe) NC_000010.11:73310192:C:G p.(Leu407Phe) NC_000010.11:73310192:C:G Identity +NM_001320316.2:c.1105T>C NP_001307245.2:p.Phe369Leu NC_000003.12:119732439:T:C p.(Phe369Leu) NC_000003.12:119732439:T:C p.(Phe369Leu) NC_000003.12:119732439:T:C Identity +NM_006324.3:c.805G>A NP_006315.1:p.Glu269Lys NC_000016.10:75305027:C:T p.(Glu269Lys) NC_000016.10:75305027:C:T p.(Glu269Lys) NC_000016.10:75305027:C:T Identity +NM_030787.4:c.115T>C NP_110414.1:p.Tyr39His NC_000001.11:196982940:T:C p.(Tyr39His) NC_000001.11:196982940:T:C p.(Tyr39His) NC_000001.11:196982940:T:C Identity +NM_001164496.2:c.1441C>T NP_001157968.1:p.Leu481Phe NC_000003.12:113400577:G:A p.(Leu481Phe) NC_000003.12:113400577:G:A p.(Leu481Phe) NC_000003.12:113400577:G:A Identity +NM_001164496.2:c.604G>A NP_001157968.1:p.Glu202Lys NC_000003.12:113416593:C:T p.(Glu202Lys) NC_000003.12:113416593:C:T p.(Glu202Lys) NC_000003.12:113416593:C:T Identity +NM_015585.4:c.1903G>T NP_056400.3:p.Ala635Ser NC_000020.11:20199872:G:T p.(Ala635Ser) NC_000020.11:20199872:G:T p.(Ala635Ser) NC_000020.11:20199872:G:T Identity +NM_001304351.2:c.2181G>A NP_001291280.1:p.Met727Ile NC_000008.11:24351988:G:A p.(Met727Ile) NC_000008.11:24351988:G:A p.(Met727Ile) NC_000008.11:24351988:G:A Identity +NM_001364170.1:c.587T>G NP_001351099.1:p.Leu196Arg NC_000014.9:104991507:T:G p.(Leu196Arg) NC_000014.9:104991507:T:G p.(Leu196Arg) NC_000014.9:104991507:T:G Identity +NM_001171087.3:c.1028G>A NP_001164558.1:p.Arg343Gln NC_000003.12:184357049:C:T p.(Arg343Gln) NC_000003.12:184357049:C:T p.(Arg343Gln) NC_000003.12:184357049:C:T Identity +NM_001040623.3:c.365C>T NP_001035713.1:p.Ala122Val NC_000001.11:111318610:C:T p.(Ala122Val) NC_000001.11:111318610:C:T p.(Ala122Val) NC_000001.11:111318610:C:T Identity +NM_001142674.2:c.315G>T NP_001136146.1:p.Gln105His NC_000011.10:902276:C:A p.(Gln105His) NC_000011.10:902276:C:A p.(Gln105His) NC_000011.10:902276:C:A Identity +NM_001253387.2:c.3058G>A NP_001240316.1:p.Gly1020Arg NC_000003.12:398237:G:A p.(Gly1020Arg) NC_000003.12:398237:G:A p.(Gly1020Arg) NC_000003.12:398237:G:A Identity +NM_022097.4:c.265C>T NP_071380.1:p.His89Tyr NC_000016.10:23756105:C:T p.(His89Tyr) NC_000016.10:23756105:C:T p.(His89Tyr) NC_000016.10:23756105:C:T Identity +NM_001385261.1:c.233A>C NP_001372190.1:p.Asn78Thr NC_000019.10:49054555:T:G p.(Asn78Thr) NC_000019.10:49054555:T:G p.(Asn78Thr) NC_000019.10:49054555:T:G Identity +NM_138481.2:c.2203G>C NP_612490.1:p.Ala735Pro NC_000022.11:41235203:C:G p.(Ala735Pro) NC_000022.11:41235203:C:G p.(Ala735Pro) NC_000022.11:41235203:C:G Identity +NM_001039706.3:c.2139T>A NP_001034795.2:p.Asp713Glu NC_000007.14:90304056:T:A p.(Asp713Glu) NC_000007.14:90304056:T:A p.(Asp713Glu) NC_000007.14:90304056:T:A Identity +NM_001317335.2:c.653C>T NP_001304264.1:p.Pro218Leu NC_000019.10:863107:C:T p.(Pro218Leu) NC_000019.10:863107:C:T p.(Pro218Leu) NC_000019.10:863107:C:T Identity +NM_194284.3:c.175C>T NP_919260.2:p.Arg59Cys NC_000008.11:8702572:C:T p.(Arg59Cys) NC_000008.11:8702572:C:T p.(Arg59Cys) NC_000008.11:8702572:C:T Identity +NM_001101389.1:c.247C>T NP_001094859.1:p.Leu83Phe NC_000011.10:113780041:C:T p.(Leu83Phe) NC_000011.10:113780041:C:T p.(Leu83Phe) NC_000011.10:113780041:C:T Identity +NM_139320.2:c.703G>A NP_647536.1:p.Gly235Ser NC_000015.10:30367434:C:T p.(Gly235Ser) NC_000015.10:30367434:C:T p.(Gly235Ser) NC_000015.10:30367434:C:T Identity +NM_003654.6:c.668C>G NP_003645.1:p.Pro223Arg NC_000011.10:45650255:G:C p.(Pro223Arg) NC_000011.10:45650255:G:C p.(Pro223Arg) NC_000011.10:45650255:G:C Identity +NM_001410969.1:c.281T>C NP_001397898.1:p.Ile94Thr NC_000012.12:8536161:A:G p.(Ile94Thr) NC_000012.12:8536161:A:G p.(Ile94Thr) NC_000012.12:8536161:A:G Identity +NM_033183.3:c.281G>A NP_149439.1:p.Arg94His NC_000019.10:49047871:C:T p.(Arg94His) NC_000019.10:49047871:C:T p.(Arg94His) NC_000019.10:49047871:C:T Identity +NM_001411094.1:c.1311A>C NP_001398023.1:p.Glu437Asp NC_000017.11:36989407:A:C p.(Glu437Asp) NC_000017.11:36989407:A:C p.(Glu437Asp) NC_000017.11:36989407:A:C Identity +NM_001005271.3:c.5999G>A NP_001005271.2:p.Gly2000Glu NC_000017.11:7910913:G:A p.(Gly2000Glu) NC_000017.11:7910913:G:A p.(Gly2000Glu) NC_000017.11:7910913:G:A Identity +NM_015557.3:c.4885C>T NP_056372.1:p.Pro1629Ser NC_000001.11:6121131:G:A p.(Pro1629Ser) NC_000001.11:6121131:G:A p.(Pro1629Ser) NC_000001.11:6121131:G:A Identity +NM_003813.4:c.398G>A NP_003804.2:p.Arg133Gln NC_000014.9:70457896:G:A p.(Arg133Gln) NC_000014.9:70457896:G:A p.(Arg133Gln) NC_000014.9:70457896:G:A Identity +NM_001375397.1:c.1714G>A NP_001362326.1:p.Gly572Ser NC_000006.12:53006365:C:T p.(Gly572Ser) NC_000006.12:53006365:C:T p.(Gly572Ser) NC_000006.12:53006365:C:T Identity +NM_000086.2:c.508C>T NP_000077.1:p.Leu170Phe NC_000016.10:28486602:G:A p.(Leu170Phe) NC_000016.10:28486602:G:A p.(Leu170Phe) NC_000016.10:28486602:G:A Identity +NM_003817.4:c.2041G>A NP_003808.2:p.Val681Ile NC_000008.11:24500827:G:A p.(Val681Ile) NC_000008.11:24500827:G:A p.(Val681Ile) NC_000008.11:24500827:G:A Identity +NM_001282175.2:c.844G>A NP_001269104.1:p.Glu282Lys NC_000019.10:44987270:G:A p.(Glu282Lys) NC_000019.10:44987270:G:A p.(Glu282Lys) NC_000019.10:44987270:G:A Identity +NM_152311.5:c.583G>A NP_689524.1:p.Val195Ile NC_000010.11:127878246:C:T p.(Val195Ile) NC_000010.11:127878246:C:T p.(Val195Ile) NC_000010.11:127878246:C:T Identity +NM_001308319.2:c.6337A>C NP_001295248.1:p.Thr2113Pro NC_000016.10:53304342:A:C p.(Thr2113Pro) NC_000016.10:53304342:A:C p.(Thr2113Pro) NC_000016.10:53304342:A:C Identity +NM_006387.6:c.23A>G NP_006378.3:p.Asp8Gly NC_000019.10:16542355:T:C p.(Asp8Gly) NC_000019.10:16542355:T:C p.(Asp8Gly) NC_000019.10:16542355:T:C Identity +NM_001083314.4:c.181C>T NP_001076783.1:p.Pro61Ser NC_000016.10:89649401:G:A p.(Pro61Ser) NC_000016.10:89649401:G:A p.(Pro61Ser) NC_000016.10:89649401:G:A Identity +NM_001083314.4:c.183G>A NP_001076783.1:p.Pro61= NC_000016.10:89649399:C:T p.(Pro61=) NC_000016.10:89649399:C:T p.(Pro61=) NC_000016.10:89649399:C:T Identity +NM_001284295.2:c.1448T>C NP_001271224.1:p.Leu483Pro NC_000007.14:151237833:T:C p.(Leu483Pro) NC_000007.14:151237833:T:C p.(Leu483Pro) NC_000007.14:151237833:T:C Identity +NM_001304472.2:c.1053T>A NP_001291401.1:p.Asn351Lys NC_000003.12:184382925:T:A p.(Asn351Lys) NC_000003.12:184382925:T:A p.(Asn351Lys) NC_000003.12:184382925:T:A Identity +NM_001366661.1:c.2477G>A NP_001353590.1:p.Arg826His NC_000017.11:2695440:C:T p.(Arg826His) NC_000017.11:2695440:C:T p.(Arg826His) NC_000017.11:2695440:C:T Identity +NM_001010852.4:c.416C>G NP_001010852.2:p.Ala139Gly NC_000006.12:123011010:C:G p.(Ala139Gly) NC_000006.12:123011010:C:G p.(Ala139Gly) NC_000006.12:123011010:C:G Identity +NM_001253387.2:c.1690A>G NP_001240316.1:p.Thr564Ala NC_000003.12:366101:A:G p.(Thr564Ala) NC_000003.12:366101:A:G p.(Thr564Ala) NC_000003.12:366101:A:G Identity +NM_001253387.2:c.1695A>T NP_001240316.1:p.Glu565Asp NC_000003.12:366106:A:T p.(Glu565Asp) NC_000003.12:366106:A:T p.(Glu565Asp) NC_000003.12:366106:A:T Identity +NM_001253387.2:c.3446G>A NP_001240316.1:p.Arg1149Gln NC_000003.12:405529:G:A p.(Arg1149Gln) NC_000003.12:405529:G:A p.(Arg1149Gln) NC_000003.12:405529:G:A Identity +NM_153610.5:c.9817T>C NP_705838.3:p.Tyr3273His NC_000005.10:79738581:T:C p.(Tyr3273His) NC_000005.10:79738581:T:C p.(Tyr3273His) NC_000005.10:79738581:T:C Identity +NM_000750.5:c.200G>T NP_000741.1:p.Ser67Ile NC_000015.10:78635442:C:A p.(Ser67Ile) NC_000015.10:78635442:C:A p.(Ser67Ile) NC_000015.10:78635442:C:A Identity +NM_152609.3:c.2139G>T NP_689822.2:p.Gln713His NC_000001.11:246665865:G:T p.(Gln713His) NC_000001.11:246665865:G:T p.(Gln713His) NC_000001.11:246665865:G:T Identity +NM_001243270.2:c.2537C>G NP_001230199.1:p.Pro846Arg NC_000011.10:100299312:C:G p.(Pro846Arg) NC_000011.10:100299312:C:G p.(Pro846Arg) NC_000011.10:100299312:C:G Identity +NM_001278473.3:c.742C>T NP_001265402.1:p.His248Tyr NC_000011.10:74704494:G:A p.(His248Tyr) NC_000011.10:74704494:G:A p.(His248Tyr) NC_000011.10:74704494:G:A Identity +NM_000014.6:c.2601T>G NP_000005.3:p.Asn867Lys NC_000012.12:9090018:A:C p.(Asn867Lys) NC_000012.12:9090018:A:C p.(Asn867Lys) NC_000012.12:9090018:A:C Identity +NM_153221.2:c.1738C>T NP_694953.2:p.Pro580Ser NC_000019.10:19544282:C:T p.(Pro580Ser) NC_000019.10:19544282:C:T p.(Pro580Ser) NC_000019.10:19544282:C:T Identity +NM_001206999.2:c.2356A>G NP_001193928.1:p.Asn786Asp NC_000012.12:119761003:T:C p.(Asn786Asp) NC_000012.12:119761003:T:C p.(Asn786Asp) NC_000012.12:119761003:T:C Identity +NM_003632.3:c.2929C>T NP_003623.1:p.Arg977Cys NC_000017.11:42693472:C:T p.(Arg977Cys) NC_000017.11:42693472:C:T p.(Arg977Cys) NC_000017.11:42693472:C:T Identity +NM_001201380.3:c.2798G>A NP_001188309.2:p.Arg933Gln NC_000009.12:41920266:C:T p.(Arg933Gln) NC_000009.12:41920266:C:T p.(Arg933Gln) NC_000009.12:41920266:C:T Identity +NM_001330762.2:c.1991G>T NP_001317691.1:p.Arg664Ile NC_000009.12:121148858:G:T p.(Arg664Ile) NC_000009.12:121148858:G:T p.(Arg664Ile) NC_000009.12:121148858:G:T Identity +NM_001318807.3:c.431G>A NP_001305736.1:p.Arg144Gln NC_000014.9:24306042:C:T p.(Arg144Gln) NC_000014.9:24306042:C:T p.(Arg144Gln) NC_000014.9:24306042:C:T Identity +NM_001398493.1:c.1144C>G NP_001385422.1:p.Gln382Glu NC_000018.10:26916446:G:C p.(Gln382Glu) NC_000018.10:26916446:G:C p.(Gln382Glu) NC_000018.10:26916446:G:C Identity +NM_001206612.2:c.332G>A NP_001193541.1:p.Arg111Lys NC_000001.11:153642354:G:A p.(Arg111Lys) NC_000001.11:153642354:G:A p.(Arg111Lys) NC_000001.11:153642354:G:A Identity +NM_001304799.2:c.667C>T NP_001291728.1:p.Arg223Trp NC_000016.10:731625:G:A p.(Arg223Trp) NC_000016.10:731625:G:A p.(Arg223Trp) NC_000016.10:731625:G:A Identity +NM_001199551.2:c.97T>C NP_001186480.1:p.Ser33Pro NC_000003.12:9877175:A:G p.(Ser33Pro) NC_000003.12:9877175:A:G p.(Ser33Pro) NC_000003.12:9877175:A:G Identity +NM_001168249.1:c.449A>T NP_001161721.1:p.Asp150Val NC_000001.11:103078696:T:A ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168249.1, alt_ac=NM_001168249.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168249.1 not found +NM_001130103.2:c.655C>T NP_001123575.1:p.Arg219Trp NC_000010.11:69895573:C:T p.(Arg219Trp) NC_000010.11:69895573:C:T p.(Arg219Trp) NC_000010.11:69895573:C:T Identity +NM_001142273.2:c.3431C>A NP_001135745.1:p.Pro1144Gln NC_000002.12:121377532:G:T p.(Pro1144Gln) NC_000002.12:121377532:G:T p.(Pro1144Gln) NC_000002.12:121377532:G:T Identity +NM_001278439.2:c.190G>A NP_001265368.1:p.Gly64Ser NC_000019.10:45053173:G:A p.(Gly64Ser) NC_000019.10:45053173:G:A p.(Gly64Ser) NC_000019.10:45053173:G:A Identity +NM_153221.2:c.767G>A NP_694953.2:p.Arg256His NC_000019.10:19542548:G:A p.(Arg256His) NC_000019.10:19542548:G:A p.(Arg256His) NC_000019.10:19542548:G:A Identity +NM_020890.3:c.511C>T NP_065941.2:p.Arg171Trp NC_000003.12:108581452:G:A p.(Arg171Trp) NC_000003.12:108581452:G:A p.(Arg171Trp) NC_000003.12:108581452:G:A Identity +NM_000494.4:c.3779G>A NP_000485.3:p.Arg1260His NC_000010.11:104034321:C:T p.(Arg1260His) NC_000010.11:104034321:C:T p.(Arg1260His) NC_000010.11:104034321:C:T Identity +NM_001858.6:c.1156C>A NP_001849.2:p.Pro386Thr NC_000006.12:70035924:C:A p.(Pro386Thr) NC_000006.12:70035924:C:A p.(Pro386Thr) NC_000006.12:70035924:C:A Identity +NM_139055.4:c.1360G>C NP_620686.1:p.Val454Leu NC_000011.10:130462597:G:C p.(Val454Leu) NC_000011.10:130462597:G:C p.(Val454Leu) NC_000011.10:130462597:G:C Identity +NM_152888.3:c.2215T>A NP_690848.1:p.Phe739Ile NC_000008.11:138724646:A:T p.(Phe739Ile) NC_000008.11:138724646:A:T p.(Phe739Ile) NC_000008.11:138724646:A:T Identity +NM_173465.4:c.881G>A NP_775736.2:p.Arg294Gln NC_000005.10:178256353:C:T p.(Arg294Gln) NC_000005.10:178256353:C:T p.(Arg294Gln) NC_000005.10:178256353:C:T Identity +NM_001008938.4:c.3295G>A NP_001008938.1:p.Ala1099Thr NC_000011.10:46769989:C:T p.(Ala1099Thr) NC_000011.10:46769989:C:T p.(Ala1099Thr) NC_000011.10:46769989:C:T Identity +NM_001099735.2:c.571G>A NP_001093205.1:p.Val191Met NC_000005.10:81255115:G:A p.(Val191Met) NC_000005.10:81255115:G:A p.(Val191Met) NC_000005.10:81255115:G:A Identity +NM_001099735.2:c.70A>G NP_001093205.1:p.Ser24Gly NC_000005.10:81251201:A:G p.(Ser24Gly) NC_000005.10:81251201:A:G p.(Ser24Gly) NC_000005.10:81251201:A:G Identity +NM_001207044.3:c.1999T>A NP_001193973.1:p.Trp667Arg NC_000003.12:33573173:A:T p.(Trp667Arg) NC_000003.12:33573173:A:T p.(Trp667Arg) NC_000003.12:33573173:A:T Identity +NM_001278439.2:c.1265G>A NP_001265368.1:p.Arg422Gln NC_000019.10:45067377:G:A p.(Arg422Gln) NC_000019.10:45067377:G:A p.(Arg422Gln) NC_000019.10:45067377:G:A Identity +NM_001130703.1:c.932G>A NP_001124175.1:p.Arg311His NC_000004.12:174976456:G:A p.(Arg311His) NC_000004.12:174976456:G:A p.(Arg311His) NC_000004.12:174976456:G:A Identity +NM_001042704.2:c.1726G>A NP_001036169.1:p.Val576Met NC_000001.11:16031812:G:A p.(Val576Met) NC_000001.11:16031812:G:A p.(Val576Met) NC_000001.11:16031812:G:A Identity +NM_001256074.3:c.1223A>G NP_001243003.1:p.Glu408Gly NC_000004.12:108859695:T:C p.(Glu408Gly) NC_000004.12:108859695:T:C p.(Glu408Gly) NC_000004.12:108859695:T:C Identity +NM_001037763.3:c.1813A>G NP_001032852.2:p.Ile605Val NC_000007.14:7436441:T:C p.(Ile605Val) NC_000007.14:7436441:T:C p.(Ile605Val) NC_000007.14:7436441:T:C Identity +NM_001037763.3:c.2584A>C NP_001032852.2:p.Lys862Gln NC_000007.14:7373321:T:G p.(Lys862Gln) NC_000007.14:7373321:T:G p.(Lys862Gln) NC_000007.14:7373321:T:G Identity +NM_001146077.2:c.206C>T NP_001139549.1:p.Ser69Phe NC_000021.9:36461489:G:A p.(Ser69Phe) NC_000021.9:36461489:G:A p.(Ser69Phe) NC_000021.9:36461489:G:A Identity +NM_021794.4:c.790G>C NP_068566.2:p.Val264Leu NC_000001.11:119895546:C:G p.(Val264Leu) NC_000001.11:119895546:C:G p.(Val264Leu) NC_000001.11:119895546:C:G Identity +NM_001313994.1:c.1045G>T NP_001300923.1:p.Val349Phe NC_000008.11:39223054:G:T p.(Val349Phe) NC_000008.11:39223054:G:T p.(Val349Phe) NC_000008.11:39223054:G:T Identity +NM_000085.5:c.937A>G NP_000076.2:p.Asn313Asp NC_000001.11:16049884:A:G p.(Asn313Asp) NC_000001.11:16049884:A:G p.(Asn313Asp) NC_000001.11:16049884:A:G Identity +NM_175060.3:c.557C>T NP_778230.1:p.Ala186Val NC_000014.9:38255465:G:A p.(Ala186Val) NC_000014.9:38255465:G:A p.(Ala186Val) NC_000014.9:38255465:G:A Identity +NM_001393342.1:c.128G>T NP_001380271.1:p.Gly43Val NC_000012.12:9998316:C:A p.(Gly43Val) NC_000012.12:9998316:C:A p.(Gly43Val) NC_000012.12:9998316:C:A Identity +NM_001278298.2:c.4645A>G NP_001265227.1:p.Ser1549Gly NC_000003.12:130410506:A:G p.(Ser1549Gly) NC_000003.12:130410506:A:G p.(Ser1549Gly) NC_000003.12:130410506:A:G Identity +NM_001102608.3:c.5722C>G NP_001096078.1:p.Arg1908Gly NC_000003.12:130649550:C:G p.(Arg1908Gly) NC_000003.12:130649550:C:G p.(Arg1908Gly) NC_000003.12:130649550:C:G Identity +NM_001853.4:c.1310C>G NP_001844.3:p.Pro437Arg NC_000020.11:62832175:C:G p.(Pro437Arg) NC_000020.11:62832175:C:G p.(Pro437Arg) NC_000020.11:62832175:C:G Identity +NM_001303421.2:c.1375G>A NP_001290350.1:p.Asp459Asn NC_000001.11:183938906:C:T p.(Asp459Asn) NC_000001.11:183938906:C:T p.(Asp459Asn) NC_000001.11:183938906:C:T Identity +NM_001375484.1:c.1220G>A NP_001362413.1:p.Arg407His NC_000015.10:43599238:G:A p.(Arg407His) NC_000015.10:43599238:G:A p.(Arg407His) NC_000015.10:43599238:G:A Identity +NM_001142273.2:c.1979A>G NP_001135745.1:p.Asn660Ser NC_000002.12:121430134:T:C p.(Asn660Ser) NC_000002.12:121430134:T:C p.(Asn660Ser) NC_000002.12:121430134:T:C Identity +NM_006984.5:c.35T>C NP_008915.1:p.Met12Thr NC_000013.11:95552787:T:C p.(Met12Thr) NC_000013.11:95552787:T:C p.(Met12Thr) NC_000013.11:95552787:T:C Identity +NM_001317009.2:c.1496T>A NP_001303938.1:p.Leu499Gln NC_000021.9:34707346:T:A p.(Leu499Gln) NC_000021.9:34707346:T:A p.(Leu499Gln) NC_000021.9:34707346:T:A Identity +NM_001199570.2:c.686G>A NP_001186499.1:p.Arg229Gln NC_000019.10:36024627:C:T p.(Arg229Gln) NC_000019.10:36024627:C:T p.(Arg229Gln) NC_000019.10:36024627:C:T Identity +NM_000546.6:c.456dup NP_000537.3:p.Pro153fs NC_000017.11:7675155:C:CC p.(Pro153AlafsTer28) NC_000017.11:7675155:C:CC p.(Pro153AlafsTer28) ERR:SPDI Analogous +NM_000051.4:c.1589C>G NP_000042.3:p.Ser530Ter NC_000011.10:108251053:C:G p.(Ser530Ter) NC_000011.10:108251053:C:G p.(Ser530Ter) NC_000011.10:108251053:C:G Identity +NM_012131.3:c.263T>C NP_036263.1:p.Val88Ala NC_000021.9:30166354:A:G p.(Val88Ala) NC_000021.9:30166354:A:G p.(Val88Ala) NC_000021.9:30166354:A:G Identity +NM_001190481.2:c.2878C>G NP_001177410.1:p.Leu960Val NC_000001.11:35743213:G:C p.(Leu960Val) NC_000001.11:35743213:G:C p.(Leu960Val) NC_000001.11:35743213:G:C Identity +NM_005975.4:c.985G>A NP_005966.1:p.Gly329Arg NC_000020.11:63530774:C:T p.(Gly329Arg) NC_000020.11:63530774:C:T p.(Gly329Arg) NC_000020.11:63530774:C:T Identity +NM_006264.3:c.3362C>T NP_006255.1:p.Pro1121Leu NC_000004.12:86758782:C:T p.(Pro1121Leu) NC_000004.12:86758782:C:T p.(Pro1121Leu) NC_000004.12:86758782:C:T Identity +NM_001363918.2:c.82C>T NP_001350847.1:p.Arg28Cys NC_000016.10:66604886:C:T p.(Arg28Cys) NC_000016.10:66604886:C:T p.(Arg28Cys) NC_000016.10:66604886:C:T Identity +NM_001037288.2:c.155T>C NP_001032365.1:p.Phe52Ser NC_000014.9:23378376:T:C p.(Phe52Ser) NC_000014.9:23378376:T:C p.(Phe52Ser) NC_000014.9:23378376:T:C Identity +NM_153610.5:c.10486G>T NP_705838.3:p.Val3496Leu NC_000005.10:79739250:G:T p.(Val3496Leu) NC_000005.10:79739250:G:T p.(Val3496Leu) NC_000005.10:79739250:G:T Identity +NM_153610.5:c.3841C>T NP_705838.3:p.Pro1281Ser NC_000005.10:79732605:C:T p.(Pro1281Ser) NC_000005.10:79732605:C:T p.(Pro1281Ser) NC_000005.10:79732605:C:T Identity +NM_001109754.4:c.3964C>T NP_001103224.1:p.Arg1322Cys NC_000012.12:70563047:G:A p.(Arg1322Cys) NC_000012.12:70563047:G:A p.(Arg1322Cys) NC_000012.12:70563047:G:A Identity +NM_004669.3:c.599G>A NP_004660.2:p.Arg200His NC_000009.12:136994792:C:T p.(Arg200His) NC_000009.12:136994792:C:T p.(Arg200His) NC_000009.12:136994792:C:T Identity +NM_003388.5:c.794C>T NP_003379.4:p.Ala265Val NC_000007.14:74353994:C:T p.(Ala265Val) NC_000007.14:74353994:C:T p.(Ala265Val) NC_000007.14:74353994:C:T Identity +NM_003817.4:c.1178T>C NP_003808.2:p.Ile393Thr NC_000008.11:24489244:T:C p.(Ile393Thr) NC_000008.11:24489244:T:C p.(Ile393Thr) NC_000008.11:24489244:T:C Identity +NM_024734.4:c.2258A>G NP_079010.2:p.Glu753Gly NC_000014.9:95203090:T:C p.(Glu753Gly) NC_000014.9:95203090:T:C p.(Glu753Gly) NC_000014.9:95203090:T:C Identity +NM_001098503.2:c.508T>C NP_001091973.1:p.Trp170Arg NC_000011.10:48121157:T:C p.(Trp170Arg) NC_000011.10:48121157:T:C p.(Trp170Arg) NC_000011.10:48121157:T:C Identity +NM_001105244.2:c.1010G>A NP_001098714.1:p.Ser337Asn NC_000018.10:7955291:G:A p.(Ser337Asn) NC_000018.10:7955291:G:A p.(Ser337Asn) NC_000018.10:7955291:G:A Identity +NM_001105244.2:c.4223G>A NP_001098714.1:p.Arg1408His NC_000018.10:8394489:G:A p.(Arg1408His) NC_000018.10:8394489:G:A p.(Arg1408His) NC_000018.10:8394489:G:A Identity +NM_182553.3:c.175C>G NP_872359.1:p.Arg59Gly NC_000011.10:66282756:C:G p.(Arg59Gly) NC_000011.10:66282756:C:G p.(Arg59Gly) NC_000011.10:66282756:C:G Identity +NM_001206838.2:c.1025T>C NP_001193767.1:p.Met342Thr NC_000007.14:121996477:T:C p.(Met342Thr) NC_000007.14:121996477:T:C p.(Met342Thr) NC_000007.14:121996477:T:C Identity +NM_014878.5:c.672G>A NP_055693.4:p.Met224Ile NC_000009.12:2830966:C:T p.(Met224Ile) NC_000009.12:2830966:C:T p.(Met224Ile) NC_000009.12:2830966:C:T Identity +NM_153610.5:c.9458C>A NP_705838.3:p.Pro3153Gln NC_000005.10:79738222:C:A p.(Pro3153Gln) NC_000005.10:79738222:C:A p.(Pro3153Gln) NC_000005.10:79738222:C:A Identity +NM_001365709.1:c.1570A>G NP_001352638.1:p.Ile524Val NC_000020.11:36030486:A:G p.(Ile524Val) NC_000020.11:36030486:A:G p.(Ile524Val) NC_000020.11:36030486:A:G Identity +NM_001282352.2:c.797G>A NP_001269281.1:p.Arg266Gln NC_000019.10:8586624:C:T p.(Arg266Gln) NC_000019.10:8586624:C:T p.(Arg266Gln) NC_000019.10:8586624:C:T Identity +NM_152755.2:c.142C>G NP_689968.1:p.Leu48Val NC_000007.14:100122281:C:G p.(Leu48Val) NC_000007.14:100122281:C:G p.(Leu48Val) NC_000007.14:100122281:C:G Identity +NM_001139459.2:c.1166C>T NP_001132931.1:p.Ser389Phe NC_000001.11:246647366:C:T p.(Ser389Phe) NC_000001.11:246647366:C:T p.(Ser389Phe) NC_000001.11:246647366:C:T Identity +NM_001324512.2:c.1522C>T NP_001311441.1:p.Arg508Cys NC_000005.10:33643427:G:A p.(Arg508Cys) NC_000005.10:33643427:G:A p.(Arg508Cys) NC_000005.10:33643427:G:A Identity +NM_001206955.2:c.508C>T NP_001193884.1:p.Arg170Cys NC_000003.12:2866804:C:T p.(Arg170Cys) NC_000003.12:2866804:C:T p.(Arg170Cys) NC_000003.12:2866804:C:T Identity +NM_001289080.2:c.2291G>A NP_001276009.1:p.Arg764Lys NC_000003.12:1383065:G:A p.(Arg764Lys) NC_000003.12:1383065:G:A p.(Arg764Lys) NC_000003.12:1383065:G:A Identity +NM_001199302.2:c.928T>G NP_001186231.1:p.Ser310Ala NC_000012.12:70338469:T:G p.(Ser310Ala) NC_000012.12:70338469:T:G p.(Ser310Ala) NC_000012.12:70338469:T:G Identity +NM_001243270.2:c.2537C>T NP_001230199.1:p.Pro846Leu NC_000011.10:100299312:C:T p.(Pro846Leu) NC_000011.10:100299312:C:T p.(Pro846Leu) NC_000011.10:100299312:C:T Identity +NM_003632.3:c.313G>T NP_003623.1:p.Gly105Cys NC_000017.11:42684178:G:T p.(Gly105Cys) NC_000017.11:42684178:G:T p.(Gly105Cys) NC_000017.11:42684178:G:T Identity +NM_001393379.1:c.1595G>A NP_001380308.1:p.Gly532Glu NC_000009.12:39149859:C:T p.(Gly532Glu) NC_000009.12:39149859:C:T p.(Gly532Glu) NC_000009.12:39149859:C:T Identity +NM_001037144.7:c.1523C>T NP_001032221.1:p.Ala508Val NC_000017.11:7944199:C:T p.(Ala508Val) NC_000017.11:7944199:C:T p.(Ala508Val) NC_000017.11:7944199:C:T Identity +NM_001287436.3:c.443C>T NP_001274365.1:p.Pro148Leu NC_000007.14:51193391:G:A p.(Pro148Leu) NC_000007.14:51193391:G:A p.(Pro148Leu) NC_000007.14:51193391:G:A Identity +NM_001037172.3:c.1435G>A NP_001032249.1:p.Gly479Arg NC_000003.12:141293196:G:A p.(Gly479Arg) NC_000003.12:141293196:G:A p.(Gly479Arg) NC_000003.12:141293196:G:A Identity +NM_002862.4:c.245G>A NP_002853.2:p.Arg82His NC_000020.11:25259237:G:A p.(Arg82His) NC_000020.11:25259237:G:A p.(Arg82His) NC_000020.11:25259237:G:A Identity +NM_138300.4:c.203T>C NP_612157.1:p.Met68Thr NC_000001.11:154959796:A:G p.(Met68Thr) NC_000001.11:154959796:A:G p.(Met68Thr) NC_000001.11:154959796:A:G Identity +NM_152501.5:c.1450T>G NP_689714.2:p.Ser484Ala NC_000001.11:158973736:T:G p.(Ser484Ala) NC_000001.11:158973736:T:G p.(Ser484Ala) NC_000001.11:158973736:T:G Identity +NM_001394028.1:c.272C>T NP_001380957.1:p.Ser91Leu NC_000017.11:43952977:G:A p.(Ser91Leu) NC_000017.11:43952977:G:A p.(Ser91Leu) NC_000017.11:43952977:G:A Identity +NM_001037144.7:c.1037G>A NP_001032221.1:p.Arg346Gln NC_000017.11:7939621:G:A p.(Arg346Gln) NC_000017.11:7939621:G:A p.(Arg346Gln) NC_000017.11:7939621:G:A Identity +NM_001037144.7:c.1137G>T NP_001032221.1:p.Glu379Asp NC_000017.11:7939721:G:T p.(Glu379Asp) NC_000017.11:7939721:G:T p.(Glu379Asp) NC_000017.11:7939721:G:T Identity +NM_139025.5:c.1491G>T NP_620594.1:p.Lys497Asn NC_000009.12:133437803:G:T p.(Lys497Asn) NC_000009.12:133437803:G:T p.(Lys497Asn) NC_000009.12:133437803:G:T Identity +NM_139025.5:c.3002C>T NP_620594.1:p.Pro1001Leu NC_000009.12:133449922:C:T p.(Pro1001Leu) NC_000009.12:133449922:C:T p.(Pro1001Leu) NC_000009.12:133449922:C:T Identity +NM_080722.4:c.2284G>A NP_542453.2:p.Gly762Ser NC_000010.11:70749841:G:A p.(Gly762Ser) NC_000010.11:70749841:G:A p.(Gly762Ser) NC_000010.11:70749841:G:A Identity +NM_001384947.1:c.3430G>A NP_001371876.1:p.Gly1144Arg NC_000008.11:120278526:G:A p.(Gly1144Arg) NC_000008.11:120278526:G:A p.(Gly1144Arg) NC_000008.11:120278526:G:A Identity +NM_001388453.1:c.4825G>A NP_001375382.1:p.Val1609Met NC_000017.11:76279131:C:T p.(Val1609Met) NC_000017.11:76279131:C:T p.(Val1609Met) NC_000017.11:76279131:C:T Identity +NM_001076786.3:c.3169G>A NP_001070254.2:p.Val1057Met NC_000011.10:32934426:G:A p.(Val1057Met) NC_000011.10:32934426:G:A p.(Val1057Met) NC_000011.10:32934426:G:A Identity +NM_001142272.2:c.998G>A NP_001135744.2:p.Arg333Gln NC_000016.10:520188:G:A p.(Arg333Gln) NC_000016.10:520188:G:A p.(Arg333Gln) NC_000016.10:520188:G:A Identity +NM_001835.4:c.1091T>C NP_001826.3:p.Phe364Ser NC_000022.11:19234584:A:G p.(Phe364Ser) NC_000022.11:19234584:A:G p.(Phe364Ser) NC_000022.11:19234584:A:G Identity +NM_001858.6:c.3328G>A NP_001849.2:p.Ala1110Thr NC_000006.12:70207172:G:A p.(Ala1110Thr) NC_000006.12:70207172:G:A p.(Ala1110Thr) NC_000006.12:70207172:G:A Identity +NM_002458.3:c.9860C>T NP_002449.2:p.Thr3287Ile NC_000011.10:1246739:C:T p.(Thr3287Ile) NC_000011.10:1246739:C:T p.(Thr3287Ile) NC_000011.10:1246739:C:T Identity +NM_002867.4:c.310A>G NP_002858.2:p.Ile104Val NC_000001.11:51937330:T:C p.(Ile104Val) NC_000001.11:51937330:T:C p.(Ile104Val) NC_000001.11:51937330:T:C Identity +NM_080870.4:c.1244C>T NP_543146.2:p.Ser415Leu NC_000006.12:30949707:C:T p.(Ser415Leu) NC_000006.12:30949707:C:T p.(Ser415Leu) NC_000006.12:30949707:C:T Identity +NM_012414.4:c.1114A>T NP_036546.2:p.Thr372Ser NC_000001.11:220195093:T:A p.(Thr372Ser) NC_000001.11:220195093:T:A p.(Thr372Ser) NC_000001.11:220195093:T:A Identity +NM_001080395.3:c.3023C>T NP_001073864.2:p.Thr1008Ile NC_000017.11:81120912:G:A p.(Thr1008Ile) NC_000017.11:81120912:G:A p.(Thr1008Ile) NC_000017.11:81120912:G:A Identity +NM_018714.3:c.43C>A NP_061184.1:p.Leu15Met NC_000017.11:73193111:C:A p.(Leu15Met) NC_000017.11:73193111:C:A p.(Leu15Met) NC_000017.11:73193111:C:A Identity +NM_001855.5:c.1126G>A NP_001846.3:p.Glu376Lys NC_000009.12:99003512:G:A p.(Glu376Lys) NC_000009.12:99003512:G:A p.(Glu376Lys) NC_000009.12:99003512:G:A Identity +NM_001289036.3:c.1262T>C NP_001275965.2:p.Met421Thr NC_000018.10:644961:T:C p.(Met421Thr) NC_000018.10:644961:T:C p.(Met421Thr) NC_000018.10:644961:T:C Identity +NM_001010852.4:c.634A>T NP_001010852.2:p.Thr212Ser NC_000006.12:123048690:A:T p.(Thr212Ser) NC_000006.12:123048690:A:T p.(Thr212Ser) NC_000006.12:123048690:A:T Identity +NM_000091.5:c.1670G>A NP_000082.2:p.Gly557Glu NC_000002.12:227270863:G:A p.(Gly557Glu) NC_000002.12:227270863:G:A p.(Gly557Glu) NC_000002.12:227270863:G:A Identity +NM_001174152.2:c.202A>G NP_001167623.1:p.Met68Val NC_000009.12:125207711:A:G p.(Met68Val) NC_000009.12:125207711:A:G p.(Met68Val) NC_000009.12:125207711:A:G Identity +NM_012197.4:c.838G>A NP_036329.3:p.Ala280Thr NC_000009.12:122990127:G:A p.(Ala280Thr) NC_000009.12:122990127:G:A p.(Ala280Thr) NC_000009.12:122990127:G:A Identity +NM_001366445.1:c.127T>G NP_001353374.1:p.Ser43Ala NC_000001.11:174221070:T:G p.(Ser43Ala) NC_000001.11:174221070:T:G p.(Ser43Ala) NC_000001.11:174221070:T:G Identity +NM_004582.4:c.784A>G NP_004573.2:p.Lys262Glu NC_000001.11:75794161:A:G p.(Lys262Glu) NC_000001.11:75794161:A:G p.(Lys262Glu) NC_000001.11:75794161:A:G Identity +NM_001001788.4:c.406A>T NP_001001788.2:p.Ser136Cys NC_000006.12:149919267:T:A p.(Ser136Cys) NC_000006.12:149919267:T:A p.(Ser136Cys) NC_000006.12:149919267:T:A Identity +NM_001278298.2:c.4975G>A NP_001265227.1:p.Gly1659Ser NC_000003.12:130421176:G:A p.(Gly1659Ser) NC_000003.12:130421176:G:A p.(Gly1659Ser) NC_000003.12:130421176:G:A Identity +NM_001102608.3:c.2657C>T NP_001096078.1:p.Thr886Ile NC_000003.12:130571072:C:T p.(Thr886Ile) NC_000003.12:130571072:C:T p.(Thr886Ile) NC_000003.12:130571072:C:T Identity +NM_001102608.3:c.65G>A NP_001096078.1:p.Gly22Asp NC_000003.12:130563067:G:A p.(Gly22Asp) NC_000003.12:130563067:G:A p.(Gly22Asp) NC_000003.12:130563067:G:A Identity +NM_001321781.3:c.237A>G NP_001308710.1:p.Ile79Met NC_000002.12:62000954:A:G p.(Ile79Met) NC_000002.12:62000954:A:G p.(Ile79Met) NC_000002.12:62000954:A:G Identity +NM_000546.6:c.483_484insG NP_000537.3:p.Ile162fs NC_000017.11:7675128::C p.(Ile162AspfsTer19) NC_000017.11:7675127:T:C p.(Ile162AspfsTer19) NC_000017.11:7675128:TG:C Analogous +NM_000051.4:c.316A>T NP_000042.3:p.Lys106Ter NC_000011.10:108229307:A:T p.(Lys106Ter) NC_000011.10:108229307:A:T p.(Lys106Ter) NC_000011.10:108229307:A:T Identity +NM_001289080.2:c.1345A>G NP_001276009.1:p.Thr449Ala NC_000003.12:1329915:A:G p.(Thr449Ala) NC_000003.12:1329915:A:G p.(Thr449Ala) NC_000003.12:1329915:A:G Identity +NM_001080395.3:c.2765C>T NP_001073864.2:p.Pro922Leu NC_000017.11:81121170:G:A p.(Pro922Leu) NC_000017.11:81121170:G:A p.(Pro922Leu) NC_000017.11:81121170:G:A Identity +NM_001126117.2:c.452delinsCC NP_001119589.1:p.Arg151fs NC_000017.11:7673771:C:GG p.(Arg151ProfsTer23) NC_000017.11:7673771:C:GG p.(Arg151ProfsTer23) NC_000017.11:7673771:C:GG Analogous +NM_001302653.2:c.504T>C NP_001289582.2:p.Asn168= NC_000014.9:103587303:T:C p.(Asn168=) NC_000014.9:103587303:T:C p.(Asn168=) NC_000014.9:103587303:T:C Identity +NM_001287436.3:c.1639C>T NP_001274365.1:p.Arg547Cys NC_000007.14:51030847:G:A p.(Arg547Cys) NC_000007.14:51030847:G:A p.(Arg547Cys) NC_000007.14:51030847:G:A Identity +NM_032888.4:c.3689C>A NP_116277.2:p.Pro1230His NC_000009.12:114275739:C:A p.(Pro1230His) NC_000009.12:114275739:C:A p.(Pro1230His) NC_000009.12:114275739:C:A Identity +NM_001846.4:c.760C>T NP_001837.2:p.Pro254Ser NC_000013.11:110436301:C:T p.(Pro254Ser) NC_000013.11:110436301:C:T p.(Pro254Ser) NC_000013.11:110436301:C:T Identity +NM_000092.5:c.1672G>A NP_000083.3:p.Asp558Asn NC_000002.12:227082138:C:T p.(Asp558Asn) NC_000002.12:227082138:C:T p.(Asp558Asn) NC_000002.12:227082138:C:T Identity +NM_139056.4:c.2963C>T NP_620687.2:p.Pro988Leu NC_000005.10:5303440:C:T p.(Pro988Leu) NC_000005.10:5303440:C:T p.(Pro988Leu) NC_000005.10:5303440:C:T Identity +NM_000495.5:c.2780del NP_000486.1:p.Leu927fs NC_000023.11:108622686:TT:T p.(Leu927CysfsTer69) NC_000023.11:108622686:TT:T p.(Leu927CysfsTer69) NC_000023.11:108622687:T: Analogous +NM_000059.4:c.8929del NP_000050.3:p.Tyr2977fs NC_000013.11:32379490:T: p.(Tyr2977IlefsTer11) NC_000013.11:32379490:T: p.(Tyr2977IlefsTer11) NC_000013.11:32379490:T: Analogous +NM_001309516.2:c.25G>A NP_001296445.1:p.Ala9Thr NC_000002.12:208437827:G:A p.(Ala9Thr) NC_000002.12:208437827:G:A p.(Ala9Thr) NC_000002.12:208437827:G:A Identity +NM_001102608.3:c.4348A>C NP_001096078.1:p.Asn1450His NC_000003.12:130592698:A:C p.(Asn1450His) NC_000003.12:130592698:A:C p.(Asn1450His) NC_000003.12:130592698:A:C Identity +NM_001853.4:c.395C>A NP_001844.3:p.Pro132Gln NC_000020.11:62821781:C:A p.(Pro132Gln) NC_000020.11:62821781:C:A p.(Pro132Gln) NC_000020.11:62821781:C:A Identity +NM_130386.3:c.1465C>T NP_569057.2:p.Pro489Ser NC_000018.10:335092:G:A p.(Pro489Ser) NC_000018.10:335092:G:A p.(Pro489Ser) NC_000018.10:335092:G:A Identity +NM_001204062.2:c.418T>C NP_001190991.1:p.Tyr140His NC_000010.11:22326437:T:C p.(Tyr140His) NC_000010.11:22326437:T:C p.(Tyr140His) NC_000010.11:22326437:T:C Identity +NM_001101653.2:c.23A>T NP_001095123.1:p.His8Leu NC_000011.10:36289389:T:A p.(His8Leu) NC_000011.10:36289389:T:A p.(His8Leu) NC_000011.10:36289389:T:A Identity +NM_000095.3:c.679C>A NP_000086.2:p.Arg227Ser NC_000019.10:18788674:G:T p.(Arg227Ser) NC_000019.10:18788674:G:T p.(Arg227Ser) NC_000019.10:18788674:G:T Identity +NM_001142370.2:c.457C>A NP_001135842.1:p.Leu153Ile NC_000002.12:130370725:C:A p.(Leu153Ile) NC_000002.12:130370725:C:A p.(Leu153Ile) NC_000002.12:130370725:C:A Identity +NM_002838.5:c.2763T>A NP_002829.3:p.Asn921Lys NC_000001.11:198744118:T:A p.(Asn921Lys) NC_000001.11:198744118:T:A p.(Asn921Lys) NC_000001.11:198744118:T:A Identity +NM_001856.4:c.829C>T NP_001847.3:p.Arg277Cys NC_000001.11:31696997:G:A p.(Arg277Cys) NC_000001.11:31696997:G:A p.(Arg277Cys) NC_000001.11:31696997:G:A Identity +NM_000494.4:c.1115C>T NP_000485.3:p.Thr372Ile NC_000010.11:104060144:G:A p.(Thr372Ile) NC_000010.11:104060144:G:A p.(Thr372Ile) NC_000010.11:104060144:G:A Identity +NM_001161440.3:c.2640T>G NP_001154912.2:p.Ser880Arg NC_000019.10:55182039:A:C p.(Ser880Arg) NC_000019.10:55182039:A:C p.(Ser880Arg) NC_000019.10:55182039:A:C Identity +NM_002458.3:c.16471C>A NP_002449.2:p.Pro5491Thr NC_000011.10:1258118:C:A p.(Pro5491Thr) NC_000011.10:1258118:C:A p.(Pro5491Thr) NC_000011.10:1258118:C:A Identity +NM_000129.4:c.691T>A NP_000120.2:p.Phe231Ile NC_000006.12:6248418:A:T p.(Phe231Ile) NC_000006.12:6248418:A:T p.(Phe231Ile) NC_000006.12:6248418:A:T Identity +NM_000051.4:c.248C>G NP_000042.3:p.Ser83Ter NC_000011.10:108229239:C:G p.(Ser83Ter) NC_000011.10:108229239:C:G p.(Ser83Ter) NC_000011.10:108229239:C:G Identity +NM_000059.4:c.760G>T NP_000050.3:p.Glu254Ter NC_000013.11:32330996:G:T p.(Glu254Ter) NC_000013.11:32330996:G:T p.(Glu254Ter) NC_000013.11:32330996:G:T Identity +NM_000546.6:c.635_645del NP_000537.3:p.Phe212fs NC_000017.11:7674885:ACTATGTCGAAA:A p.(Phe212CysfsTer6) NC_000017.11:7674885:ACTATGTCGAAA:A p.(Phe212CysfsTer6) NC_000017.11:7674885:ACTATGTCGAA: Analogous +NM_002425.3:c.1130C>T NP_002416.1:p.Thr377Ile NC_000011.10:102772942:G:A p.(Thr377Ile) NC_000011.10:102772942:G:A p.(Thr377Ile) NC_000011.10:102772942:G:A Identity +NM_001394011.1:c.3962G>A NP_001380940.1:p.Arg1321His NC_000019.10:5218439:C:T p.(Arg1321His) NC_000019.10:5218439:C:T p.(Arg1321His) NC_000019.10:5218439:C:T Identity +NM_001369395.1:c.3686C>A NP_001356324.1:p.Ser1229Tyr NC_000007.14:122012731:C:A p.(Ser1229Tyr) NC_000007.14:122012731:C:A p.(Ser1229Tyr) NC_000007.14:122012731:C:A Identity +NM_020882.4:c.1198G>A NP_065933.2:p.Ala400Thr NC_000020.11:63309849:G:A p.(Ala400Thr) NC_000020.11:63309849:G:A p.(Ala400Thr) NC_000020.11:63309849:G:A Identity +NM_139055.4:c.1651G>A NP_620686.1:p.Gly551Arg NC_000011.10:130469369:G:A p.(Gly551Arg) NC_000011.10:130469369:G:A p.(Gly551Arg) NC_000011.10:130469369:G:A Identity +NM_152888.3:c.3236G>A NP_690848.1:p.Arg1079Gln NC_000008.11:138662033:C:T p.(Arg1079Gln) NC_000008.11:138662033:C:T p.(Arg1079Gln) NC_000008.11:138662033:C:T Identity +NM_152888.3:c.500G>T NP_690848.1:p.Arg167Leu NC_000008.11:138877907:C:A p.(Arg167Leu) NC_000008.11:138877907:C:A p.(Arg167Leu) NC_000008.11:138877907:C:A Identity +NM_152890.7:c.745C>A NP_690850.2:p.Gln249Lys NC_000001.11:86125590:G:T p.(Gln249Lys) NC_000001.11:86125590:G:T p.(Gln249Lys) NC_000001.11:86125590:G:T Identity +NM_005049.3:c.1568A>G NP_005040.2:p.Lys523Arg NC_000021.9:44121033:A:G p.(Lys523Arg) NC_000021.9:44121033:A:G p.(Lys523Arg) NC_000021.9:44121033:A:G Identity +NM_001369789.1:c.1945G>A NP_001356718.1:p.Gly649Ser NC_000019.10:1371036:G:A p.(Gly649Ser) NC_000019.10:1371036:G:A p.(Gly649Ser) NC_000019.10:1371036:G:A Identity +NM_000368.5:c.2519C>A NP_000359.1:p.Ser840Ter NC_000009.12:132900820:G:T p.(Ser840Ter) NC_000009.12:132900820:G:T p.(Ser840Ter) NC_000009.12:132900820:G:T Identity +NM_058216.3:c.858_861dup NP_478123.1:p.Thr288fs NC_000017.11:58720765:GACA:GACAGACA p.(Thr288AspfsTer5) NC_000017.11:58720765:GACA:GACAGACA p.(Thr288AspfsTer5) ERR:SPDI Analogous +NM_000546.6:c.812dup NP_000537.3:p.Val272fs NC_000017.11:7673807:T:TT p.(Val272GlyfsTer34) NC_000017.11:7673807:T:TT p.(Val272GlyfsTer34) ERR:SPDI Analogous +NM_139056.4:c.3259T>C NP_620687.2:p.Tyr1087His NC_000005.10:5306575:T:C p.(Tyr1087His) NC_000005.10:5306575:T:C p.(Tyr1087His) NC_000005.10:5306575:T:C Identity +NM_000495.5:c.55C>G NP_000486.1:p.Leu19Val NC_000023.11:108440179:C:G p.(Leu19Val) NC_000023.11:108440179:C:G p.(Leu19Val) NC_000023.11:108440179:C:G Identity +NM_001849.4:c.5T>C NP_001840.3:p.Leu2Pro NC_000021.9:46111480:T:C p.(Leu2Pro) NC_000021.9:46111480:T:C p.(Leu2Pro) NC_000021.9:46111480:T:C Identity +NM_001278298.2:c.5923G>C NP_001265227.1:p.Ala1975Pro NC_000003.12:130440260:G:C p.(Ala1975Pro) NC_000003.12:130440260:G:C p.(Ala1975Pro) NC_000003.12:130440260:G:C Identity +NM_001329866.3:c.739C>T NP_001316795.2:p.Arg247Trp NC_000008.11:143605725:G:A p.(Arg247Trp) NC_000008.11:143605725:G:A p.(Arg247Trp) NC_000008.11:143605725:G:A Identity +NM_001102608.3:c.5599G>T NP_001096078.1:p.Ala1867Ser NC_000003.12:130649427:G:T p.(Ala1867Ser) NC_000003.12:130649427:G:T p.(Ala1867Ser) NC_000003.12:130649427:G:T Identity +NM_014298.6:c.481C>T NP_055113.3:p.Arg161Cys NC_000016.10:29695130:C:T p.(Arg161Cys) NC_000016.10:29695130:C:T p.(Arg161Cys) NC_000016.10:29695130:C:T Identity +NM_000051.4:c.1374C>A NP_000042.3:p.Cys458Ter NC_000011.10:108250838:C:A p.(Cys458Ter) NC_000011.10:108250838:C:A p.(Cys458Ter) NC_000011.10:108250838:C:A Identity +NM_000051.4:c.2082del NP_000042.3:p.Leu695fs NC_000011.10:108253995:TT:T p.(Leu695TrpfsTer8) NC_000011.10:108253995:TT:T p.(Leu695TrpfsTer8) NC_000011.10:108253996:T: Analogous +NM_031209.3:c.745C>T NP_112486.1:p.Arg249Trp NC_000019.10:10712258:C:T p.(Arg249Trp) NC_000019.10:10712258:C:T p.(Arg249Trp) NC_000019.10:10712258:C:T Identity +NM_001142272.2:c.406G>T NP_001135744.2:p.Ala136Ser NC_000016.10:503037:G:T p.(Ala136Ser) NC_000016.10:503037:G:T p.(Ala136Ser) NC_000016.10:503037:G:T Identity +NM_000059.4:c.4370del NP_000050.3:p.Leu1457fs NC_000013.11:32338723:TT:T p.(Leu1457CysfsTer6) NC_000013.11:32338723:TT:T p.(Leu1457CysfsTer6) NC_000013.11:32338724:T: Analogous +NM_001407041.1:c.747dup NP_001393970.1:p.Gln250fs NC_000018.10:51058203:G:GG p.(Gln250AlafsTer14) NC_000018.10:51058203:G:GG p.(Gln250AlafsTer14) ERR:SPDI Analogous +NM_000051.4:c.4955del NP_000042.3:p.Leu1652fs NC_000011.10:108297330:TT:T p.(Leu1652CysfsTer8) NC_000011.10:108297330:TT:T p.(Leu1652CysfsTer8) NC_000011.10:108297331:T: Analogous +NM_000465.4:c.1746_1747del NP_000456.2:p.Lys583fs NC_000002.12:214745784:TCT:T p.(Lys583AsnfsTer4) NC_000002.12:214745784:TCT:T p.(Lys583AsnfsTer4) NC_000002.12:214745784:TC: Analogous +NM_000179.3:c.3858_3859dup NP_000170.1:p.Tyr1287fs NC_000002.12:47806505:CTCT:CTCTCT p.(Tyr1287SerfsTer41) NC_000002.12:47806505:CTCT:CTCTCT p.(Tyr1287SerfsTer41) ERR:SPDI Analogous +NM_012414.4:c.3367C>T NP_036546.2:p.Pro1123Ser NC_000001.11:220157457:G:A p.(Pro1123Ser) NC_000001.11:220157457:G:A p.(Pro1123Ser) NC_000001.11:220157457:G:A Identity +NM_001252039.2:c.289T>G NP_001238968.1:p.Cys97Gly NC_000017.11:42128776:A:C p.(Cys97Gly) NC_000017.11:42128776:A:C p.(Cys97Gly) NC_000017.11:42128776:A:C Identity +NM_032144.3:c.467G>A NP_115520.2:p.Arg156Lys NC_000002.12:129980581:G:A p.(Arg156Lys) NC_000002.12:129980581:G:A p.(Arg156Lys) NC_000002.12:129980581:G:A Identity +NM_001174152.2:c.118C>A NP_001167623.1:p.Pro40Thr NC_000009.12:125207627:C:A p.(Pro40Thr) NC_000009.12:125207627:C:A p.(Pro40Thr) NC_000009.12:125207627:C:A Identity +NM_001366446.1:c.1769A>T NP_001353375.1:p.Asp590Val NC_000001.11:174637432:A:T p.(Asp590Val) NC_000001.11:174637432:A:T p.(Asp590Val) NC_000001.11:174637432:A:T Identity +NM_001364837.1:c.1843_1844dup NP_001351766.1:p.Met615fs NC_000014.9:64441410:TAT:TATAT p.(Met615IlefsTer2) NC_000014.9:64441410:TAT:TATAT p.(Met615IlefsTer2) ERR:SPDI Analogous +NM_006264.3:c.6422G>C NP_006255.1:p.Arg2141Thr NC_000004.12:86799177:G:C p.(Arg2141Thr) NC_000004.12:86799177:G:C p.(Arg2141Thr) NC_000004.12:86799177:G:C Identity +NM_001207013.2:c.605C>G NP_001193942.1:p.Thr202Ser NC_000018.10:12817324:G:C p.(Thr202Ser) NC_000018.10:12817324:G:C p.(Thr202Ser) NC_000018.10:12817324:G:C Identity +NM_007039.4:c.2641G>A NP_008970.2:p.Asp881Asn NC_000014.9:88473672:C:T p.(Asp881Asn) NC_000014.9:88473672:C:T p.(Asp881Asn) NC_000014.9:88473672:C:T Identity +NM_080870.4:c.3931G>A NP_543146.2:p.Ala1311Thr NC_000006.12:30952394:G:A p.(Ala1311Thr) NC_000006.12:30952394:G:A p.(Ala1311Thr) NC_000006.12:30952394:G:A Identity +NM_001099218.3:c.280G>A NP_001092688.1:p.Val94Ile NC_000002.12:17518135:C:T p.(Val94Ile) NC_000002.12:17518135:C:T p.(Val94Ile) NC_000002.12:17518135:C:T Identity +NM_001350283.2:c.1363C>T NP_001337212.1:p.Leu455Phe NC_000011.10:65865103:C:T p.(Leu455Phe) NC_000011.10:65865103:C:T p.(Leu455Phe) NC_000011.10:65865103:C:T Identity +NM_018059.5:c.429C>G NP_060529.4:p.Ile143Met NC_000007.14:4877710:G:C p.(Ile143Met) NC_000007.14:4877710:G:C p.(Ile143Met) NC_000007.14:4877710:G:C Identity +NM_001109754.4:c.1567T>A NP_001103224.1:p.Ser523Thr NC_000012.12:70592494:A:T p.(Ser523Thr) NC_000012.12:70592494:A:T p.(Ser523Thr) NC_000012.12:70592494:A:T Identity +NM_000448.3:c.1234A>G NP_000439.2:p.Arg412Gly NC_000011.10:36574537:A:G p.(Arg412Gly) NC_000011.10:36574537:A:G p.(Arg412Gly) NC_000011.10:36574537:A:G Identity +NM_001195100.2:c.5A>G NP_001182029.1:p.Asn2Ser NC_000001.11:31919060:T:C p.(Asn2Ser) NC_000001.11:31919060:T:C p.(Asn2Ser) NC_000001.11:31919060:T:C Identity +NM_002830.4:c.1143C>G NP_002821.1:p.Asp381Glu NC_000002.12:119932495:C:G p.(Asp381Glu) NC_000002.12:119932495:C:G p.(Asp381Glu) NC_000002.12:119932495:C:G Identity +NM_002848.4:c.3300C>G NP_002839.1:p.Ser1100Arg NC_000012.12:15587024:C:G p.(Ser1100Arg) NC_000012.12:15587024:C:G p.(Ser1100Arg) NC_000012.12:15587024:C:G Identity +NM_001375471.1:c.58G>C NP_001362400.1:p.Val20Leu NC_000003.12:61562344:G:C p.(Val20Leu) NC_000003.12:61562344:G:C p.(Val20Leu) NC_000003.12:61562344:G:C Identity +NM_001394011.1:c.4963G>A NP_001380940.1:p.Val1655Ile NC_000019.10:5211990:C:T p.(Val1655Ile) NC_000019.10:5211990:C:T p.(Val1655Ile) NC_000019.10:5211990:C:T Identity +NM_001394011.1:c.5062C>T NP_001380940.1:p.Arg1688Cys NC_000019.10:5211695:G:A p.(Arg1688Cys) NC_000019.10:5211695:G:A p.(Arg1688Cys) NC_000019.10:5211695:G:A Identity +NM_002458.3:c.4475C>T NP_002449.2:p.Thr1492Met NC_000011.10:1241354:C:T p.(Thr1492Met) NC_000011.10:1241354:C:T p.(Thr1492Met) NC_000011.10:1241354:C:T Identity +NM_001135768.3:c.1069A>C NP_001129240.1:p.Ser357Arg NC_000019.10:44661760:A:C p.(Ser357Arg) NC_000019.10:44661760:A:C p.(Ser357Arg) NC_000019.10:44661760:A:C Identity +NM_001171020.2:c.637G>C NP_001164491.1:p.Asp213His NC_000023.11:106206068:G:C p.(Asp213His) NC_000023.11:106206068:G:C p.(Asp213His) NC_000023.11:106206068:G:C Identity +NM_012293.3:c.512C>T NP_036425.1:p.Thr171Ile NC_000002.12:1683703:G:A p.(Thr171Ile) NC_000002.12:1683703:G:A p.(Thr171Ile) NC_000002.12:1683703:G:A Identity +NM_001171020.2:c.124C>T NP_001164491.1:p.Leu42Phe NC_000023.11:106205555:C:T p.(Leu42Phe) NC_000023.11:106205555:C:T p.(Leu42Phe) NC_000023.11:106205555:C:T Identity +NM_001171020.2:c.874G>T NP_001164491.1:p.Asp292Tyr NC_000023.11:106206305:G:T p.(Asp292Tyr) NC_000023.11:106206305:G:T p.(Asp292Tyr) NC_000023.11:106206305:G:T Identity +NM_001076786.3:c.4123G>A NP_001070254.2:p.Val1375Ile NC_000011.10:32935380:G:A p.(Val1375Ile) NC_000011.10:32935380:G:A p.(Val1375Ile) NC_000011.10:32935380:G:A Identity +NM_181701.4:c.1789C>A NP_859052.3:p.Pro597Thr NC_000009.12:136209035:G:T p.(Pro597Thr) NC_000009.12:136209035:G:T p.(Pro597Thr) NC_000009.12:136209035:G:T Identity +NM_001136108.3:c.1295C>G NP_001129580.2:p.Pro432Arg NC_000008.11:23296068:C:G p.(Pro432Arg) NC_000008.11:23296068:C:G p.(Pro432Arg) NC_000008.11:23296068:C:G Identity +NM_001282798.2:c.2160G>C NP_001269727.1:p.Gln720His NC_000002.12:135675440:G:C p.(Gln720His) NC_000002.12:135675440:G:C p.(Gln720His) NC_000002.12:135675440:G:C Identity +NM_178491.4:c.478C>T NP_848586.1:p.Arg160Cys NC_000020.11:44343473:C:T p.(Arg160Cys) NC_000020.11:44343473:C:T p.(Arg160Cys) NC_000020.11:44343473:C:T Identity +NM_001142272.2:c.1009A>G NP_001135744.2:p.Ser337Gly NC_000016.10:520199:A:G p.(Ser337Gly) NC_000016.10:520199:A:G p.(Ser337Gly) NC_000016.10:520199:A:G Identity +NM_001006638.3:c.97A>T NP_001006639.1:p.Met33Leu NC_000017.11:74740770:A:T p.(Met33Leu) NC_000017.11:74740770:A:T p.(Met33Leu) NC_000017.11:74740770:A:T Identity +NM_004283.4:c.253C>T NP_004274.1:p.Arg85Cys NC_000019.10:11335758:G:A p.(Arg85Cys) NC_000019.10:11335758:G:A p.(Arg85Cys) NC_000019.10:11335758:G:A Identity +NM_006822.3:c.794G>A NP_006813.1:p.Ser265Asn NC_000017.11:82657905:C:T p.(Ser265Asn) NC_000017.11:82657905:C:T p.(Ser265Asn) NC_000017.11:82657905:C:T Identity +NM_001032726.3:c.25G>C NP_001027898.2:p.Ala9Pro NC_000023.11:70282241:G:C p.(Ala9Pro) NC_000023.11:70282241:G:C p.(Ala9Pro) NC_000023.11:70282241:G:C Identity +NM_001077637.3:c.670T>C NP_001071105.1:p.Ser224Pro NC_000002.12:131363050:A:G p.(Ser224Pro) NC_000002.12:131363050:A:G p.(Ser224Pro) NC_000002.12:131363050:A:G Identity +NM_001174152.2:c.197A>G NP_001167623.1:p.His66Arg NC_000009.12:125207706:A:G p.(His66Arg) NC_000009.12:125207706:A:G p.(His66Arg) NC_000009.12:125207706:A:G Identity +NM_002853.4:c.487C>G NP_002844.1:p.Leu163Val NC_000005.10:34911632:G:C p.(Leu163Val) NC_000005.10:34911632:G:C p.(Leu163Val) NC_000005.10:34911632:G:C Identity +NM_012293.3:c.2191A>G NP_036425.1:p.Asn731Asp NC_000002.12:1649588:T:C p.(Asn731Asp) NC_000002.12:1649588:T:C p.(Asn731Asp) NC_000002.12:1649588:T:C Identity +NM_001145520.1:c.2221C>T NP_001138992.1:p.Arg741Trp NC_000005.10:34824062:C:T p.(Arg741Trp) NC_000005.10:34824062:C:T p.(Arg741Trp) NC_000005.10:34824062:C:T Identity +NM_001145520.1:c.959G>A NP_001138992.1:p.Arg320Gln NC_000005.10:34818815:G:A p.(Arg320Gln) NC_000005.10:34818815:G:A p.(Arg320Gln) NC_000005.10:34818815:G:A Identity +NM_006788.4:c.1874T>A NP_006779.1:p.Val625Asp NC_000018.10:9535842:T:A p.(Val625Asp) NC_000018.10:9535842:T:A p.(Val625Asp) NC_000018.10:9535842:T:A Identity +NM_020343.4:c.4550A>G NP_065076.2:p.Asp1517Gly NC_000020.11:20512818:T:C p.(Asp1517Gly) NC_000020.11:20512818:T:C p.(Asp1517Gly) NC_000020.11:20512818:T:C Identity +NM_006834.5:c.613G>A NP_006825.1:p.Asp205Asn NC_000006.12:146554539:G:A p.(Asp205Asn) NC_000006.12:146554539:G:A p.(Asp205Asn) NC_000006.12:146554539:G:A Identity +NM_080879.3:c.257G>T NP_543155.2:p.Gly86Val NC_000023.11:103500499:C:A p.(Gly86Val) NC_000023.11:103500499:C:A p.(Gly86Val) NC_000023.11:103500499:C:A Identity +NM_001271998.2:c.85C>T NP_001258927.1:p.Arg29Cys NC_000001.11:229297590:C:T p.(Arg29Cys) NC_000001.11:229297590:C:T p.(Arg29Cys) NC_000001.11:229297590:C:T Identity +NM_006265.3:c.689A>G NP_006256.1:p.Asp230Gly NC_000008.11:116856770:T:C p.(Asp230Gly) NC_000008.11:116856770:T:C p.(Asp230Gly) NC_000008.11:116856770:T:C Identity +NM_001100391.3:c.9A>C NP_001093861.1:p.Lys3Asn NC_000008.11:84185006:A:C p.(Lys3Asn) NC_000008.11:84185006:A:C p.(Lys3Asn) NC_000008.11:84185006:A:C Identity +NM_001278639.2:c.803A>C NP_001265568.1:p.Glu268Ala NC_000022.11:20127017:A:C p.(Glu268Ala) NC_000022.11:20127017:A:C p.(Glu268Ala) NC_000022.11:20127017:A:C Identity +NM_005854.3:c.52C>G NP_005845.2:p.Arg18Gly NC_000017.11:42761312:C:G p.(Arg18Gly) NC_000017.11:42761312:C:G p.(Arg18Gly) NC_000017.11:42761312:C:G Identity +NM_020343.4:c.5332C>G NP_065076.2:p.His1778Asp NC_000020.11:20495151:G:C p.(His1778Asp) NC_000020.11:20495151:G:C p.(His1778Asp) NC_000020.11:20495151:G:C Identity +NM_002461.3:c.529G>A NP_002452.1:p.Asp177Asn NC_000016.10:88656178:C:T p.(Asp177Asn) NC_000016.10:88656178:C:T p.(Asp177Asn) NC_000016.10:88656178:C:T Identity +NM_001329728.2:c.550A>G NP_001316657.1:p.Thr184Ala NC_000002.12:203489765:T:C p.(Thr184Ala) NC_000002.12:203489765:T:C p.(Thr184Ala) NC_000002.12:203489765:T:C Identity +NM_001366725.1:c.661C>T NP_001353654.1:p.Arg221Cys NC_000022.11:35551891:C:T p.(Arg221Cys) NC_000022.11:35551891:C:T p.(Arg221Cys) NC_000022.11:35551891:C:T Identity +NM_152573.4:c.524G>T NP_689786.2:p.Arg175Leu NC_000009.12:83025828:C:A p.(Arg175Leu) NC_000009.12:83025828:C:A p.(Arg175Leu) NC_000009.12:83025828:C:A Identity +NM_006909.3:c.558T>A NP_008840.1:p.Asn186Lys NC_000005.10:81070505:T:A p.(Asn186Lys) NC_000005.10:81070505:T:A p.(Asn186Lys) NC_000005.10:81070505:T:A Identity +NM_001144925.2:c.1733T>C NP_001138397.1:p.Phe578Ser NC_000021.9:41452843:T:C p.(Phe578Ser) NC_000021.9:41452843:T:C p.(Phe578Ser) NC_000021.9:41452843:T:C Identity +NM_017805.3:c.220G>C NP_060275.2:p.Ala74Pro NC_000019.10:48739562:C:G p.(Ala74Pro) NC_000019.10:48739562:C:G p.(Ala74Pro) NC_000019.10:48739562:C:G Identity +NM_001143993.2:c.125G>A NP_001137465.1:p.Gly42Asp NC_000011.10:562078:G:A p.(Gly42Asp) NC_000011.10:562078:G:A p.(Gly42Asp) NC_000011.10:562078:G:A Identity +NM_001201545.2:c.104G>A NP_001188474.1:p.Arg35His NC_000001.11:110339508:G:A p.(Arg35His) NC_000001.11:110339508:G:A p.(Arg35His) NC_000001.11:110339508:G:A Identity +NM_017805.3:c.2179G>T NP_060275.2:p.Gly727Cys NC_000019.10:48724908:C:A p.(Gly727Cys) NC_000019.10:48724908:C:A p.(Gly727Cys) NC_000019.10:48724908:C:A Identity +NM_001348027.2:c.655C>T NP_001334956.1:p.Arg219Trp NC_000019.10:15460209:G:A p.(Arg219Trp) NC_000019.10:15460209:G:A p.(Arg219Trp) NC_000019.10:15460209:G:A Identity +NM_017805.3:c.1915G>A NP_060275.2:p.Val639Met NC_000019.10:48727114:C:T p.(Val639Met) NC_000019.10:48727114:C:T p.(Val639Met) NC_000019.10:48727114:C:T Identity +NM_017805.3:c.1930C>T NP_060275.2:p.Arg644Trp NC_000019.10:48727099:G:A p.(Arg644Trp) NC_000019.10:48727099:G:A p.(Arg644Trp) NC_000019.10:48727099:G:A Identity +NM_033315.4:c.529G>A NP_201572.1:p.Val177Ile NC_000017.11:35741221:G:A p.(Val177Ile) NC_000017.11:35741221:G:A p.(Val177Ile) NC_000017.11:35741221:G:A Identity +NM_001270391.2:c.340A>G NP_001257320.1:p.Arg114Gly NC_000004.12:73587881:T:C p.(Arg114Gly) NC_000004.12:73587881:T:C p.(Arg114Gly) NC_000004.12:73587881:T:C Identity +NM_001146698.2:c.357G>T NP_001140170.1:p.Lys119Asn NC_000012.12:113959885:C:A p.(Lys119Asn) NC_000012.12:113959885:C:A p.(Lys119Asn) NC_000012.12:113959885:C:A Identity +NM_001077351.2:c.341G>A NP_001070819.1:p.Arg114Gln NC_000014.9:22906254:C:T p.(Arg114Gln) NC_000014.9:22906254:C:T p.(Arg114Gln) NC_000014.9:22906254:C:T Identity +NM_001242599.2:c.335A>G NP_001229528.1:p.Asp112Gly NC_000020.11:35729326:T:C p.(Asp112Gly) NC_000020.11:35729326:T:C p.(Asp112Gly) NC_000020.11:35729326:T:C Identity +NM_006910.5:c.712T>C NP_008841.2:p.Phe238Leu NC_000016.10:24559541:T:C p.(Phe238Leu) NC_000016.10:24559541:T:C p.(Phe238Leu) NC_000016.10:24559541:T:C Identity +NM_001142333.2:c.283G>A NP_001135805.1:p.Ala95Thr NC_000016.10:7579788:G:A p.(Ala95Thr) NC_000016.10:7579788:G:A p.(Ala95Thr) NC_000016.10:7579788:G:A Identity +NM_001329728.2:c.1879T>G NP_001316657.1:p.Ser627Ala NC_000002.12:203444920:A:C p.(Ser627Ala) NC_000002.12:203444920:A:C p.(Ser627Ala) NC_000002.12:203444920:A:C Identity +NM_213589.3:c.3181G>A NP_998754.1:p.Val1061Met NC_000002.12:203440008:C:T p.(Val1061Met) NC_000002.12:203440008:C:T p.(Val1061Met) NC_000002.12:203440008:C:T Identity +NM_000964.4:c.1319C>T NP_000955.1:p.Pro440Leu NC_000017.11:40356155:C:T p.(Pro440Leu) NC_000017.11:40356155:C:T p.(Pro440Leu) NC_000017.11:40356155:C:T Identity +NM_015419.4:c.269A>G NP_056234.2:p.Glu90Gly NC_000023.11:3330692:T:C p.(Glu90Gly) NC_000023.11:3330692:T:C p.(Glu90Gly) NC_000023.11:3330692:T:C Identity +NM_001346738.2:c.770C>T NP_001333667.1:p.Thr257Met NC_000001.11:235138105:G:A p.(Thr257Met) NC_000001.11:235138105:G:A p.(Thr257Met) NC_000001.11:235138105:G:A Identity +NM_198557.3:c.620G>A NP_940959.1:p.Arg207Lys NC_000002.12:151251359:C:T p.(Arg207Lys) NC_000002.12:151251359:C:T p.(Arg207Lys) NC_000002.12:151251359:C:T Identity +NM_001365578.1:c.739C>T NP_001352507.1:p.Arg247Cys NC_000002.12:178121244:C:T p.(Arg247Cys) NC_000002.12:178121244:C:T p.(Arg247Cys) NC_000002.12:178121244:C:T Identity +NM_001277171.2:c.872T>C NP_001264100.1:p.Met291Thr NC_000004.12:154799033:T:C p.(Met291Thr) NC_000004.12:154799033:T:C p.(Met291Thr) NC_000004.12:154799033:T:C Identity +NM_001143993.2:c.427G>T NP_001137465.1:p.Ala143Ser NC_000011.10:562380:G:T p.(Ala143Ser) NC_000011.10:562380:G:T p.(Ala143Ser) NC_000011.10:562380:G:T Identity +NM_001366174.1:c.1106C>T NP_001353103.1:p.Pro369Leu NC_000019.10:10322711:G:A p.(Pro369Leu) NC_000019.10:10322711:G:A p.(Pro369Leu) NC_000019.10:10322711:G:A Identity +NM_001198719.2:c.1374T>A NP_001185648.1:p.Asp458Glu NC_000023.11:16845070:A:T p.(Asp458Glu) NC_000023.11:16845070:A:T p.(Asp458Glu) NC_000023.11:16845070:A:T Identity +NM_004164.3:c.92G>A NP_004155.2:p.Arg31His NC_000003.12:139462271:C:T p.(Arg31His) NC_000003.12:139462271:C:T p.(Arg31His) NC_000003.12:139462271:C:T Identity +NM_001003792.3:c.229A>G NP_001003792.1:p.Ile77Val NC_000003.12:29434898:A:G p.(Ile77Val) NC_000003.12:29434898:A:G p.(Ile77Val) NC_000003.12:29434898:A:G Identity +NM_001348027.2:c.577G>A NP_001334956.1:p.Ala193Thr NC_000019.10:15461088:C:T p.(Ala193Thr) NC_000019.10:15461088:C:T p.(Ala193Thr) NC_000019.10:15461088:C:T Identity +NM_001139488.2:c.1366G>A NP_001132960.1:p.Asp456Asn NC_000002.12:33543598:G:A p.(Asp456Asn) NC_000002.12:33543598:G:A p.(Asp456Asn) NC_000002.12:33543598:G:A Identity +NM_001251977.2:c.566G>C NP_001238906.1:p.Gly189Ala NC_000001.11:24535116:G:C p.(Gly189Ala) NC_000001.11:24535116:G:C p.(Gly189Ala) NC_000001.11:24535116:G:C Identity +NM_001363648.2:c.191C>T NP_001350577.1:p.Pro64Leu NC_000011.10:63915251:G:A p.(Pro64Leu) NC_000011.10:63915251:G:A p.(Pro64Leu) NC_000011.10:63915251:G:A Identity +NM_001363648.2:c.38G>C NP_001350577.1:p.Gly13Ala NC_000011.10:63916418:C:G p.(Gly13Ala) NC_000011.10:63916418:C:G p.(Gly13Ala) NC_000011.10:63916418:C:G Identity +NM_002903.3:c.307G>C NP_002894.1:p.Glu103Gln NC_000017.11:9904873:C:G p.(Glu103Gln) NC_000017.11:9904873:C:G p.(Glu103Gln) NC_000017.11:9904873:C:G Identity +NM_001145971.2:c.374C>T NP_001139443.1:p.Ala125Val NC_000019.10:55048729:G:A p.(Ala125Val) NC_000019.10:55048729:G:A p.(Ala125Val) NC_000019.10:55048729:G:A Identity +NM_001145971.2:c.512A>G NP_001139443.1:p.Asn171Ser NC_000019.10:55048474:T:C p.(Asn171Ser) NC_000019.10:55048474:T:C p.(Asn171Ser) NC_000019.10:55048474:T:C Identity +NM_001300850.1:c.85A>G NP_001287779.1:p.Ile29Val NC_000001.11:173992900:T:C p.(Ile29Val) NC_000001.11:173992900:T:C p.(Ile29Val) NC_000001.11:173992900:T:C Identity +NM_003708.5:c.503G>A NP_003699.3:p.Arg168Gln NC_000012.12:56954974:C:T p.(Arg168Gln) NC_000012.12:56954974:C:T p.(Arg168Gln) NC_000012.12:56954974:C:T Identity +NM_001316345.2:c.1780C>T NP_001303274.1:p.Pro594Ser NC_000009.12:36117087:C:T p.(Pro594Ser) NC_000009.12:36117087:C:T p.(Pro594Ser) NC_000009.12:36117087:C:T Identity +NM_001166135.2:c.797T>C NP_001159607.1:p.Leu266Pro NC_000007.14:128324677:A:G p.(Leu266Pro) NC_000007.14:128324677:A:G p.(Leu266Pro) NC_000007.14:128324677:A:G Identity +NM_001366165.2:c.961A>G NP_001353094.1:p.Ile321Val NC_000001.11:64781553:A:G p.(Ile321Val) NC_000001.11:64781553:A:G p.(Ile321Val) NC_000001.11:64781553:A:G Identity +NM_006910.5:c.5186A>G NP_008841.2:p.Lys1729Arg NC_000016.10:24572251:A:G p.(Lys1729Arg) NC_000016.10:24572251:A:G p.(Lys1729Arg) NC_000016.10:24572251:A:G Identity +NM_001198838.2:c.176G>T NP_001185767.1:p.Arg59Leu NC_000020.11:35655146:C:A p.(Arg59Leu) NC_000020.11:35655146:C:A p.(Arg59Leu) NC_000020.11:35655146:C:A Identity +NM_001198838.2:c.622A>C NP_001185767.1:p.Ile208Leu NC_000020.11:35654700:T:G p.(Ile208Leu) NC_000020.11:35654700:T:G p.(Ile208Leu) NC_000020.11:35654700:T:G Identity +NM_001105538.2:c.2656G>C NP_001099008.1:p.Ala886Pro NC_000017.11:4543148:C:G p.(Ala886Pro) NC_000017.11:4543148:C:G p.(Ala886Pro) NC_000017.11:4543148:C:G Identity +NM_001144924.2:c.596C>T NP_001138396.1:p.Thr199Met NC_000016.10:20821881:C:T p.(Thr199Met) NC_000016.10:20821881:C:T p.(Thr199Met) NC_000016.10:20821881:C:T Identity +NM_001346229.2:c.2186T>C NP_001333158.1:p.Ile729Thr NC_000018.10:62258659:T:C p.(Ile729Thr) NC_000018.10:62258659:T:C p.(Ile729Thr) NC_000018.10:62258659:T:C Identity +NM_001130029.2:c.604G>A NP_001123501.1:p.Gly202Arg NC_000005.10:141640019:G:A p.(Gly202Arg) NC_000005.10:141640019:G:A p.(Gly202Arg) NC_000005.10:141640019:G:A Identity +NM_001029874.3:c.261C>G NP_001025045.3:p.Phe87Leu NC_000012.12:27696822:C:G p.(Phe87Leu) NC_000012.12:27696822:C:G p.(Phe87Leu) NC_000012.12:27696822:C:G Identity +NM_001080975.2:c.14C>T NP_001074444.1:p.Ala5Val NC_000023.11:16946874:C:T p.(Ala5Val) NC_000023.11:16946874:C:T p.(Ala5Val) NC_000023.11:16946874:C:T Identity +NM_018169.4:c.3029C>T NP_060639.4:p.Thr1010Met NC_000012.12:31983983:C:T p.(Thr1010Met) NC_000012.12:31983983:C:T p.(Thr1010Met) NC_000012.12:31983983:C:T Identity +NM_005778.4:c.1534A>G NP_005769.1:p.Ser512Gly NC_000003.12:50113460:A:G p.(Ser512Gly) NC_000003.12:50113460:A:G p.(Ser512Gly) NC_000003.12:50113460:A:G Identity +NM_001003792.3:c.55C>T NP_001003792.1:p.Pro19Ser NC_000003.12:29281735:C:T p.(Pro19Ser) NC_000003.12:29281735:C:T p.(Pro19Ser) NC_000003.12:29281735:C:T Identity +NM_015419.4:c.487C>T NP_056234.2:p.Leu163Phe NC_000023.11:3330239:G:A p.(Leu163Phe) NC_000023.11:3330239:G:A p.(Leu163Phe) NC_000023.11:3330239:G:A Identity +NM_001162536.3:c.538A>G NP_001156008.1:p.Arg180Gly NC_000001.11:88983288:T:C p.(Arg180Gly) NC_000001.11:88983288:T:C p.(Arg180Gly) NC_000001.11:88983288:T:C Identity +NM_001145346.2:c.1076G>A NP_001138818.1:p.Arg359Lys NC_000023.11:115190516:G:A p.(Arg359Lys) NC_000023.11:115190516:G:A p.(Arg359Lys) NC_000023.11:115190516:G:A Identity +NM_001098535.1:c.673C>T NP_001092005.1:p.Arg225Cys NC_000022.11:32360550:C:T p.(Arg225Cys) NC_000022.11:32360550:C:T p.(Arg225Cys) NC_000022.11:32360550:C:T Identity +NM_144629.3:c.1249C>T NP_653230.2:p.His417Tyr NC_000002.12:197572264:G:A p.(His417Tyr) NC_000002.12:197572264:G:A p.(His417Tyr) NC_000002.12:197572264:G:A Identity +NM_001368073.2:c.3860T>C NP_001355002.1:p.Ile1287Thr NC_000015.10:56093576:A:G p.(Ile1287Thr) NC_000015.10:56093576:A:G p.(Ile1287Thr) NC_000015.10:56093576:A:G Identity +NM_178126.4:c.427C>G NP_835227.1:p.His143Asp NC_000017.11:42586841:G:C p.(His143Asp) NC_000017.11:42586841:G:C p.(His143Asp) NC_000017.11:42586841:G:C Identity +NM_001286431.2:c.3211C>T NP_001273360.1:p.Leu1071Phe NC_000006.12:111374909:G:A p.(Leu1071Phe) NC_000006.12:111374909:G:A p.(Leu1071Phe) NC_000006.12:111374909:G:A Identity +NM_001377960.1:c.2919G>A NP_001364889.1:p.Met973Ile NC_000008.11:93733491:C:T p.(Met973Ile) NC_000008.11:93733491:C:T p.(Met973Ile) NC_000008.11:93733491:C:T Identity +NM_013286.5:c.1446C>A NP_037418.3:p.Asp482Glu NC_000003.12:51392844:C:A p.(Asp482Glu) NC_000003.12:51392844:C:A p.(Asp482Glu) NC_000003.12:51392844:C:A Identity +NM_001146698.2:c.315C>A NP_001140170.1:p.Asp105Glu NC_000012.12:113960082:G:T p.(Asp105Glu) NC_000012.12:113960082:G:T p.(Asp105Glu) NC_000012.12:113960082:G:T Identity +NM_001278610.2:c.2020A>T NP_001265539.1:p.Ile674Phe NC_000020.11:43716075:A:T p.(Ile674Phe) NC_000020.11:43716075:A:T p.(Ile674Phe) NC_000020.11:43716075:A:T Identity +NM_001039152.3:c.38C>T NP_001034241.1:p.Ala13Val NC_000001.11:192347338:C:T p.(Ala13Val) NC_000001.11:192347338:C:T p.(Ala13Val) NC_000001.11:192347338:C:T Identity +NM_001286692.2:c.1039T>C NP_001273621.1:p.Ser347Pro NC_000008.11:100063692:A:G p.(Ser347Pro) NC_000008.11:100063692:A:G p.(Ser347Pro) NC_000008.11:100063692:A:G Identity +NM_001081955.3:c.1754G>A NP_001075424.1:p.Arg585Gln NC_000017.11:65225356:G:A p.(Arg585Gln) NC_000017.11:65225356:G:A p.(Arg585Gln) NC_000017.11:65225356:G:A Identity +NM_001329536.1:c.1025C>T NP_001316465.1:p.Ala342Val NC_000022.11:29260195:G:A p.(Ala342Val) NC_000022.11:29260195:G:A p.(Ala342Val) NC_000022.11:29260195:G:A Identity +NM_005133.3:c.13G>A NP_005124.1:p.Gly5Ser NC_000011.10:66843467:G:A p.(Gly5Ser) NC_000011.10:66843467:G:A p.(Gly5Ser) NC_000011.10:66843467:G:A Identity +NM_001286699.2:c.124G>A NP_001273628.1:p.Val42Met NC_000009.12:4841244:G:A p.(Val42Met) NC_000009.12:4841244:G:A p.(Val42Met) NC_000009.12:4841244:G:A Identity +NM_001320108.2:c.377C>T NP_001307037.1:p.Ala126Val NC_000012.12:56952170:G:A p.(Ala126Val) NC_000012.12:56952170:G:A p.(Ala126Val) NC_000012.12:56952170:G:A Identity +NM_001042367.2:c.73C>T NP_001035826.1:p.Arg25Trp NC_000015.10:73443257:C:T p.(Arg25Trp) NC_000015.10:73443257:C:T p.(Arg25Trp) NC_000015.10:73443257:C:T Identity +NM_001413017.1:c.2834T>G NP_001399946.1:p.Leu945Trp NC_000008.11:144512251:A:C p.(Leu945Trp) NC_000008.11:144512251:A:C p.(Leu945Trp) NC_000008.11:144512251:A:C Identity +NM_001135920.4:c.405G>A NP_001129392.2:p.Met135Ile NC_000009.12:5713967:G:A p.(Met135Ile) NC_000009.12:5713967:G:A p.(Met135Ile) NC_000009.12:5713967:G:A Identity +NM_001329424.3:c.178C>T NP_001316353.1:p.Arg60Cys NC_000022.11:23692207:C:T p.(Arg60Cys) NC_000022.11:23692207:C:T p.(Arg60Cys) NC_000022.11:23692207:C:T Identity +NM_001286485.2:c.1009C>T NP_001273414.1:p.Pro337Ser NC_000016.10:270768:G:A p.(Pro337Ser) NC_000016.10:270768:G:A p.(Pro337Ser) NC_000016.10:270768:G:A Identity +NM_001098634.2:c.910A>T NP_001092104.1:p.Thr304Ser NC_000004.12:40437983:T:A p.(Thr304Ser) NC_000004.12:40437983:T:A p.(Thr304Ser) NC_000004.12:40437983:T:A Identity +NM_001008710.3:c.37C>T NP_001008710.1:p.Pro13Ser NC_000008.11:30385128:C:T p.(Pro13Ser) NC_000008.11:30385128:C:T p.(Pro13Ser) NC_000008.11:30385128:C:T Identity +NM_001242581.2:c.1225C>T NP_001229510.1:p.Arg409Trp NC_000020.11:19975102:C:T p.(Arg409Trp) NC_000020.11:19975102:C:T p.(Arg409Trp) NC_000020.11:19975102:C:T Identity +NM_001319987.2:c.1915G>A NP_001306916.1:p.Glu639Lys NC_000014.9:92659273:G:A p.(Glu639Lys) NC_000014.9:92659273:G:A p.(Glu639Lys) NC_000014.9:92659273:G:A Identity +NM_001346229.2:c.3527G>A NP_001333158.1:p.Arg1176Gln NC_000018.10:62291596:G:A p.(Arg1176Gln) NC_000018.10:62291596:G:A p.(Arg1176Gln) NC_000018.10:62291596:G:A Identity +NM_001130173.2:c.1365G>A NP_001123645.1:p.Met455Ile NC_000006.12:135197121:G:A p.(Met455Ile) NC_000006.12:135197121:G:A p.(Met455Ile) NC_000006.12:135197121:G:A Identity +NM_018169.4:c.1480T>A NP_060639.4:p.Cys494Ser NC_000012.12:31982434:T:A p.(Cys494Ser) NC_000012.12:31982434:T:A p.(Cys494Ser) NC_000012.12:31982434:T:A Identity +NM_001394154.1:c.3868C>A NP_001381083.1:p.Pro1290Thr NC_000004.12:3430708:C:A p.(Pro1290Thr) NC_000004.12:3430708:C:A p.(Pro1290Thr) NC_000004.12:3430708:C:A Identity +NM_001276261.2:c.380A>G NP_001263190.1:p.Lys127Arg NC_000009.12:113507423:A:G p.(Lys127Arg) NC_000009.12:113507423:A:G p.(Lys127Arg) NC_000009.12:113507423:A:G Identity +NM_001017919.2:c.1066G>A NP_001017919.1:p.Val356Ile NC_000015.10:90961703:G:A p.(Val356Ile) NC_000015.10:90961703:G:A p.(Val356Ile) NC_000015.10:90961703:G:A Identity +NM_015156.4:c.181G>T NP_055971.2:p.Ala61Ser NC_000014.9:102593066:G:T p.(Ala61Ser) NC_000014.9:102593066:G:T p.(Ala61Ser) NC_000014.9:102593066:G:T Identity +NM_001282582.2:c.235G>C NP_001269511.1:p.Gly79Arg NC_000001.11:1355590:C:G p.(Gly79Arg) NC_000001.11:1355590:C:G p.(Gly79Arg) NC_000001.11:1355590:C:G Identity +NM_015725.4:c.799C>T NP_056540.3:p.Leu267Phe NC_000019.10:10021611:C:T p.(Leu267Phe) NC_000019.10:10021611:C:T p.(Leu267Phe) NC_000019.10:10021611:C:T Identity +NM_001290268.2:c.972G>C NP_001277197.1:p.Glu324Asp NC_000020.11:50604758:C:G p.(Glu324Asp) NC_000020.11:50604758:C:G p.(Glu324Asp) NC_000020.11:50604758:C:G Identity +NM_002933.5:c.285C>G NP_002924.1:p.Asn95Lys NC_000014.9:20801783:G:C p.(Asn95Lys) NC_000014.9:20801783:G:C p.(Asn95Lys) NC_000014.9:20801783:G:C Identity +NM_015057.5:c.7457C>T NP_055872.4:p.Ser2486Phe NC_000013.11:77140107:G:A p.(Ser2486Phe) NC_000013.11:77140107:G:A p.(Ser2486Phe) NC_000013.11:77140107:G:A Identity +NM_001330474.2:c.2062C>A NP_001317403.1:p.Leu688Met NC_000012.12:120571195:C:A p.(Leu688Met) NC_000012.12:120571195:C:A p.(Leu688Met) NC_000012.12:120571195:C:A Identity +NM_001286431.2:c.4490G>A NP_001273360.1:p.Arg1497Gln NC_000006.12:111373630:C:T p.(Arg1497Gln) NC_000006.12:111373630:C:T p.(Arg1497Gln) NC_000006.12:111373630:C:T Identity +NM_020695.4:c.1523C>T NP_065746.3:p.Ala508Val NC_000019.10:1827265:G:A p.(Ala508Val) NC_000019.10:1827265:G:A p.(Ala508Val) NC_000019.10:1827265:G:A Identity +NM_001352275.2:c.734A>G NP_001339204.1:p.Asp245Gly NC_000016.10:670982:A:G p.(Asp245Gly) NC_000016.10:670982:A:G p.(Asp245Gly) NC_000016.10:670982:A:G Identity +NM_001206557.2:c.3540G>C NP_001193486.1:p.Leu1180Phe NC_000009.12:5772597:G:C p.(Leu1180Phe) NC_000009.12:5772597:G:C p.(Leu1180Phe) NC_000009.12:5772597:G:C Identity +NM_001285439.2:c.3313C>A NP_001272368.1:p.Pro1105Thr NC_000005.10:38950534:G:T p.(Pro1105Thr) NC_000005.10:38950534:G:T p.(Pro1105Thr) NC_000005.10:38950534:G:T Identity +NM_001270528.2:c.1022T>C NP_001257457.1:p.Leu341Pro NC_000015.10:59055695:T:C p.(Leu341Pro) NC_000015.10:59055695:T:C p.(Leu341Pro) NC_000015.10:59055695:T:C Identity +NM_007148.5:c.1208G>A NP_009079.2:p.Arg403His NC_000017.11:19415118:G:A p.(Arg403His) NC_000017.11:19415118:G:A p.(Arg403His) NC_000017.11:19415118:G:A Identity +NM_178861.5:c.271G>A NP_849192.1:p.Asp91Asn NC_000013.11:98176965:C:T p.(Asp91Asn) NC_000013.11:98176965:C:T p.(Asp91Asn) NC_000013.11:98176965:C:T Identity +NM_001171815.2:c.148G>A NP_001165286.1:p.Val50Ile NC_000016.10:88699653:C:T p.(Val50Ile) NC_000016.10:88699653:C:T p.(Val50Ile) NC_000016.10:88699653:C:T Identity +NM_001346229.2:c.227C>T NP_001333158.1:p.Ser76Leu NC_000018.10:62187731:C:T p.(Ser76Leu) NC_000018.10:62187731:C:T p.(Ser76Leu) NC_000018.10:62187731:C:T Identity +NM_001363559.2:c.1967T>C NP_001350488.1:p.Leu656Pro NC_000011.10:66332576:A:G p.(Leu656Pro) NC_000011.10:66332576:A:G p.(Leu656Pro) NC_000011.10:66332576:A:G Identity +NM_001319956.1:c.1559C>T NP_001306885.1:p.Ser520Leu NC_000001.11:44649886:C:T p.(Ser520Leu) NC_000001.11:44649886:C:T p.(Ser520Leu) NC_000001.11:44649886:C:T Identity +NM_002915.4:c.92A>G NP_002906.1:p.Gln31Arg NC_000013.11:33821135:A:G p.(Gln31Arg) NC_000013.11:33821135:A:G p.(Gln31Arg) NC_000013.11:33821135:A:G Identity +NM_001370534.1:c.1222A>G NP_001357463.1:p.Ser408Gly NC_000016.10:74636549:T:C p.(Ser408Gly) NC_000016.10:74636549:T:C p.(Ser408Gly) NC_000016.10:74636549:T:C Identity +NM_000635.4:c.940G>A NP_000626.2:p.Gly314Ser NC_000019.10:6010210:C:T p.(Gly314Ser) NC_000019.10:6010210:C:T p.(Gly314Ser) NC_000019.10:6010210:C:T Identity +NM_173560.4:c.1298C>T NP_775831.2:p.Thr433Ile NC_000006.12:116920424:C:T p.(Thr433Ile) NC_000006.12:116920424:C:T p.(Thr433Ile) NC_000006.12:116920424:C:T Identity +NM_001368073.2:c.1820A>G NP_001355002.1:p.Lys607Arg NC_000015.10:56095616:T:C p.(Lys607Arg) NC_000015.10:56095616:T:C p.(Lys607Arg) NC_000015.10:56095616:T:C Identity +NM_025236.4:c.1031C>T NP_079512.3:p.Pro344Leu NC_000006.12:30071138:G:A p.(Pro344Leu) NC_000006.12:30071138:G:A p.(Pro344Leu) NC_000006.12:30071138:G:A Identity +NM_025107.3:c.88G>A NP_079383.2:p.Asp30Asn NC_000006.12:152697989:G:A p.(Asp30Asn) NC_000006.12:152697989:G:A p.(Asp30Asn) NC_000006.12:152697989:G:A Identity +NM_014901.5:c.394G>A NP_055716.1:p.Ala132Thr NC_000005.10:176531533:C:T p.(Ala132Thr) NC_000005.10:176531533:C:T p.(Ala132Thr) NC_000005.10:176531533:C:T Identity +NM_001286431.2:c.2314A>T NP_001273360.1:p.Thr772Ser NC_000006.12:111375806:T:A p.(Thr772Ser) NC_000006.12:111375806:T:A p.(Thr772Ser) NC_000006.12:111375806:T:A Identity +NM_020695.4:c.1045C>T NP_065746.3:p.Leu349Phe NC_000019.10:1827743:G:A p.(Leu349Phe) NC_000019.10:1827743:G:A p.(Leu349Phe) NC_000019.10:1827743:G:A Identity +NM_134261.3:c.20C>T NP_599023.1:p.Ala7Val NC_000015.10:61229198:G:A p.(Ala7Val) NC_000015.10:61229198:G:A p.(Ala7Val) NC_000015.10:61229198:G:A Identity +NM_012421.4:c.5480T>C NP_036553.2:p.Ile1827Thr NC_000001.11:40240181:T:C p.(Ile1827Thr) NC_000001.11:40240181:T:C p.(Ile1827Thr) NC_000001.11:40240181:T:C Identity +NM_001276342.1:c.398A>G NP_001263271.1:p.His133Arg NC_000018.10:23515988:A:G p.(His133Arg) NC_000018.10:23515988:A:G p.(His133Arg) NC_000018.10:23515988:A:G Identity +NM_001170791.3:c.933A>C NP_001164262.1:p.Arg311Ser NC_000002.12:37991284:A:C p.(Arg311Ser) NC_000002.12:37991284:A:C p.(Arg311Ser) NC_000002.12:37991284:A:C Identity +NM_005615.5:c.344G>A NP_005606.1:p.Arg115His NC_000014.9:20782042:G:A p.(Arg115His) NC_000014.9:20782042:G:A p.(Arg115His) NC_000014.9:20782042:G:A Identity +NM_001080496.3:c.502C>T NP_001073965.2:p.Arg168Trp NC_000009.12:35751279:C:T p.(Arg168Trp) NC_000009.12:35751279:C:T p.(Arg168Trp) NC_000009.12:35751279:C:T Identity +NM_182588.3:c.3107T>A NP_872394.2:p.Ile1036Asn NC_000002.12:107871110:T:A p.(Ile1036Asn) NC_000002.12:107871110:T:A p.(Ile1036Asn) NC_000002.12:107871110:T:A Identity +NM_001286485.2:c.260C>T NP_001273414.1:p.Pro87Leu NC_000016.10:275033:G:A p.(Pro87Leu) NC_000016.10:275033:G:A p.(Pro87Leu) NC_000016.10:275033:G:A Identity +NM_178857.6:c.3122G>T NP_849188.4:p.Gly1041Val NC_000008.11:10610975:C:A p.(Gly1041Val) NC_000008.11:10610975:C:A p.(Gly1041Val) NC_000008.11:10610975:C:A Identity +NM_005941.5:c.1201G>A NP_005932.2:p.Gly401Arg NC_000008.11:88074625:C:T p.(Gly401Arg) NC_000008.11:88074625:C:T p.(Gly401Arg) NC_000008.11:88074625:C:T Identity +NM_178861.5:c.536C>G NP_849192.1:p.Ala179Gly NC_000013.11:98176700:G:C p.(Ala179Gly) NC_000013.11:98176700:G:C p.(Ala179Gly) NC_000013.11:98176700:G:C Identity +NM_022064.5:c.1837C>T NP_071347.2:p.Arg613Trp NC_000003.12:49703512:C:T p.(Arg613Trp) NC_000003.12:49703512:C:T p.(Arg613Trp) NC_000003.12:49703512:C:T Identity +NM_182757.4:c.26A>G NP_877434.2:p.Tyr9Cys NC_000006.12:18399559:A:G p.(Tyr9Cys) NC_000006.12:18399559:A:G p.(Tyr9Cys) NC_000006.12:18399559:A:G Identity +NM_001297674.2:c.3169G>T NP_001284603.1:p.Ala1057Ser NC_000001.11:150472194:G:T p.(Ala1057Ser) NC_000001.11:150472194:G:T p.(Ala1057Ser) NC_000001.11:150472194:G:T Identity +NM_003952.3:c.560C>T NP_003943.2:p.Ser187Phe NC_000011.10:67432780:C:T p.(Ser187Phe) NC_000011.10:67432780:C:T p.(Ser187Phe) NC_000011.10:67432780:C:T Identity +NM_003952.3:c.868C>T NP_003943.2:p.Pro290Ser NC_000011.10:67433408:C:T p.(Pro290Ser) NC_000011.10:67433408:C:T p.(Pro290Ser) NC_000011.10:67433408:C:T Identity +NM_152617.4:c.547A>G NP_689830.2:p.Ser183Gly NC_000003.12:196487409:T:C p.(Ser183Gly) NC_000003.12:196487409:T:C p.(Ser183Gly) NC_000003.12:196487409:T:C Identity +NM_001300826.2:c.2062C>T NP_001287755.1:p.Arg688Cys NC_000001.11:32936939:G:A p.(Arg688Cys) NC_000001.11:32936939:G:A p.(Arg688Cys) NC_000001.11:32936939:G:A Identity +NM_001033081.3:c.389A>T NP_001028253.1:p.Asp130Val NC_000001.11:39901045:T:A p.(Asp130Val) NC_000001.11:39901045:T:A p.(Asp130Val) NC_000001.11:39901045:T:A Identity +NM_001190228.2:c.182A>G NP_001177157.1:p.Glu61Gly NC_000009.12:137228796:A:G p.(Glu61Gly) NC_000009.12:137228796:A:G p.(Glu61Gly) NC_000009.12:137228796:A:G Identity +NM_001243738.2:c.1405C>T NP_001230667.1:p.Arg469Trp NC_000006.12:33293477:G:A p.(Arg469Trp) NC_000006.12:33293477:G:A p.(Arg469Trp) NC_000006.12:33293477:G:A Identity +NM_001243738.2:c.392C>T NP_001230667.1:p.Ser131Phe NC_000006.12:33296157:G:A p.(Ser131Phe) NC_000006.12:33296157:G:A p.(Ser131Phe) NC_000006.12:33296157:G:A Identity +NM_001278610.2:c.631A>G NP_001265539.1:p.Ile211Val NC_000020.11:43699795:A:G p.(Ile211Val) NC_000020.11:43699795:A:G p.(Ile211Val) NC_000020.11:43699795:A:G Identity +NM_001354011.2:c.354G>T NP_001340940.1:p.Glu118Asp NC_000023.11:55731453:G:T p.(Glu118Asp) NC_000023.11:55731453:G:T p.(Glu118Asp) NC_000023.11:55731453:G:T Identity +NM_001003698.4:c.3320C>T NP_001003698.1:p.Ser1107Phe NC_000006.12:7231418:C:T p.(Ser1107Phe) NC_000006.12:7231418:C:T p.(Ser1107Phe) NC_000006.12:7231418:C:T Identity +NM_001184996.2:c.1078C>T NP_001171925.1:p.Leu360Phe NC_000007.14:156676643:C:T p.(Leu360Phe) NC_000007.14:156676643:C:T p.(Leu360Phe) NC_000007.14:156676643:C:T Identity +NM_001207033.1:c.391C>T NP_001193962.1:p.Pro131Ser NC_000016.10:30763507:C:T p.(Pro131Ser) NC_000016.10:30763507:C:T p.(Pro131Ser) NC_000016.10:30763507:C:T Identity +NM_001128929.3:c.1166C>A NP_001122401.1:p.Thr389Asn NC_000003.12:77550875:C:A p.(Thr389Asn) NC_000003.12:77550875:C:A p.(Thr389Asn) NC_000003.12:77550875:C:A Identity +NM_001040456.3:c.639G>T NP_001035546.1:p.Lys213Asn NC_000007.14:75883749:G:T p.(Lys213Asn) NC_000007.14:75883749:G:T p.(Lys213Asn) NC_000007.14:75883749:G:T Identity +NM_004533.4:c.2276C>A NP_004524.3:p.Pro759His NC_000019.10:50455581:C:A p.(Pro759His) NC_000019.10:50455581:C:A p.(Pro759His) NC_000019.10:50455581:C:A Identity +NM_004704.5:c.355C>G NP_004695.1:p.Gln119Glu NC_000003.12:51937579:G:C p.(Gln119Glu) NC_000003.12:51937579:G:C p.(Gln119Glu) NC_000003.12:51937579:G:C Identity +NM_018364.5:c.104G>T NP_060834.2:p.Gly35Val NC_000001.11:113812308:C:A p.(Gly35Val) NC_000001.11:113812308:C:A p.(Gly35Val) NC_000001.11:113812308:C:A Identity +NM_001174103.2:c.570T>A NP_001167574.1:p.Asp190Glu NC_000017.11:28612343:A:T p.(Asp190Glu) NC_000017.11:28612343:A:T p.(Asp190Glu) NC_000017.11:28612343:A:T Identity +NM_001128929.3:c.3970G>A NP_001122401.1:p.Gly1324Arg NC_000003.12:77635030:G:A p.(Gly1324Arg) NC_000003.12:77635030:G:A p.(Gly1324Arg) NC_000003.12:77635030:G:A Identity +NM_001254718.3:c.3010C>T NP_001241647.1:p.Arg1004Trp NC_000012.12:101677315:C:T p.(Arg1004Trp) NC_000012.12:101677315:C:T p.(Arg1004Trp) NC_000012.12:101677315:C:T Identity +NM_001276260.2:c.443A>G NP_001263189.1:p.Lys148Arg NC_000009.12:113583891:A:G p.(Lys148Arg) NC_000009.12:113583891:A:G p.(Lys148Arg) NC_000009.12:113583891:A:G Identity +NM_001204416.3:c.47C>T NP_001191345.1:p.Pro16Leu NC_000014.9:71964837:C:T p.(Pro16Leu) NC_000014.9:71964837:C:T p.(Pro16Leu) NC_000014.9:71964837:C:T Identity +NM_032287.3:c.251C>G NP_115663.2:p.Ser84Cys NC_000022.11:44497305:G:C p.(Ser84Cys) NC_000022.11:44497305:G:C p.(Ser84Cys) NC_000022.11:44497305:G:C Identity +NM_178857.6:c.3779C>A NP_849188.4:p.Thr1260Asn NC_000008.11:10610318:G:T p.(Thr1260Asn) NC_000008.11:10610318:G:T p.(Thr1260Asn) NC_000008.11:10610318:G:T Identity +NM_015540.4:c.82C>T NP_056355.2:p.Pro28Ser NC_000015.10:41537043:G:A p.(Pro28Ser) NC_000015.10:41537043:G:A p.(Pro28Ser) NC_000015.10:41537043:G:A Identity +NM_005061.3:c.617C>T NP_005052.1:p.Pro206Leu NC_000016.10:1947264:G:A p.(Pro206Leu) NC_000016.10:1947264:G:A p.(Pro206Leu) NC_000016.10:1947264:G:A Identity +NM_000973.5:c.752C>A NP_000964.1:p.Thr251Asn NC_000008.11:144789825:G:T p.(Thr251Asn) NC_000008.11:144789825:G:T p.(Thr251Asn) NC_000008.11:144789825:G:T Identity +NM_001104546.2:c.503A>G NP_001098016.1:p.Tyr168Cys NC_000010.11:90894844:A:G p.(Tyr168Cys) NC_000010.11:90894844:A:G p.(Tyr168Cys) NC_000010.11:90894844:A:G Identity +NM_001006944.2:c.1265G>T NP_001006945.1:p.Cys422Phe NC_000011.10:64368549:G:T p.(Cys422Phe) NC_000011.10:64368549:G:T p.(Cys422Phe) NC_000011.10:64368549:G:T Identity +NM_181885.3:c.456C>A NP_871001.1:p.His152Gln NC_000001.11:155942164:C:A p.(His152Gln) NC_000001.11:155942164:C:A p.(His152Gln) NC_000001.11:155942164:C:A Identity +NM_001317007.1:c.167G>T NP_001303936.1:p.Arg56Leu NC_000001.11:153607678:C:A p.(Arg56Leu) NC_000001.11:153607678:C:A p.(Arg56Leu) NC_000001.11:153607678:C:A Identity +NM_001256121.2:c.218C>T NP_001243050.1:p.Ser73Phe NC_000001.11:32826316:C:T p.(Ser73Phe) NC_000001.11:32826316:C:T p.(Ser73Phe) NC_000001.11:32826316:C:T Identity +NM_001330181.2:c.806C>T NP_001317110.1:p.Ser269Phe NC_000017.11:32305388:C:T p.(Ser269Phe) NC_000017.11:32305388:C:T p.(Ser269Phe) NC_000017.11:32305388:C:T Identity +NM_003802.3:c.203G>A NP_003793.2:p.Arg68Gln NC_000017.11:10364327:C:T p.(Arg68Gln) NC_000017.11:10364327:C:T p.(Arg68Gln) NC_000017.11:10364327:C:T Identity +NM_001003698.4:c.1937G>T NP_001003698.1:p.Arg646Leu NC_000006.12:7230035:G:T p.(Arg646Leu) NC_000006.12:7230035:G:T p.(Arg646Leu) NC_000006.12:7230035:G:T Identity +NM_014649.3:c.299C>G NP_055464.1:p.Thr100Arg NC_000019.10:5616461:G:C p.(Thr100Arg) NC_000019.10:5616461:G:C p.(Thr100Arg) NC_000019.10:5616461:G:C Identity +NM_001364564.1:c.553C>T NP_001351493.1:p.Arg185Trp NC_000014.9:21525168:G:A p.(Arg185Trp) NC_000014.9:21525168:G:A p.(Arg185Trp) NC_000014.9:21525168:G:A Identity +NM_171999.4:c.2791A>G NP_741996.2:p.Ile931Val NC_000018.10:78994781:A:G p.(Ile931Val) NC_000018.10:78994781:A:G p.(Ile931Val) NC_000018.10:78994781:A:G Identity +NM_080621.5:c.463C>G NP_542188.1:p.Leu155Val NC_000020.11:63975814:G:C p.(Leu155Val) NC_000020.11:63975814:G:C p.(Leu155Val) NC_000020.11:63975814:G:C Identity +NM_001010860.4:c.1808A>G NP_001010860.1:p.Gln603Arg NC_000014.9:77391026:A:G p.(Gln603Arg) NC_000014.9:77391026:A:G p.(Gln603Arg) NC_000014.9:77391026:A:G Identity +NM_001134707.2:c.2260G>A NP_001128179.1:p.Ala754Thr NC_000009.12:133671600:C:T p.(Ala754Thr) NC_000009.12:133671600:C:T p.(Ala754Thr) NC_000009.12:133671600:C:T Identity +NM_015672.2:c.2693C>T NP_056487.1:p.Pro898Leu NC_000022.11:18608741:G:A p.(Pro898Leu) NC_000022.11:18608741:G:A p.(Pro898Leu) NC_000022.11:18608741:G:A Identity +NM_001346505.2:c.2164C>T NP_001333434.1:p.Pro722Ser NC_000006.12:148543768:C:T p.(Pro722Ser) NC_000006.12:148543768:C:T p.(Pro722Ser) NC_000006.12:148543768:C:T Identity +NM_001365819.1:c.3380G>T NP_001352748.1:p.Cys1127Phe NC_000022.11:50460065:C:A p.(Cys1127Phe) NC_000022.11:50460065:C:A p.(Cys1127Phe) NC_000022.11:50460065:C:A Identity +NM_001078172.2:c.185C>G NP_001071640.1:p.Ala62Gly NC_000023.11:135051923:G:C p.(Ala62Gly) NC_000023.11:135051923:G:C p.(Ala62Gly) NC_000023.11:135051923:G:C Identity +NM_001042533.3:c.818C>T NP_001035998.1:p.Ser273Leu NC_000003.12:97950855:G:A p.(Ser273Leu) NC_000003.12:97950855:G:A p.(Ser273Leu) NC_000003.12:97950855:G:A Identity +NM_001286445.3:c.1540A>G NP_001273374.1:p.Asn514Asp NC_000006.12:24843178:T:C p.(Asn514Asp) NC_000006.12:24843178:T:C p.(Asn514Asp) NC_000006.12:24843178:T:C Identity +NM_001321859.2:c.2377G>C NP_001308788.1:p.Glu793Gln NC_000002.12:55025103:C:G p.(Glu793Gln) NC_000002.12:55025103:C:G p.(Glu793Gln) NC_000002.12:55025103:C:G Identity +NM_014981.3:c.2885C>T NP_055796.2:p.Thr962Ile NC_000003.12:108441030:G:A p.(Thr962Ile) NC_000003.12:108441030:G:A p.(Thr962Ile) NC_000003.12:108441030:G:A Identity +NM_001198679.3:c.199G>A NP_001185608.1:p.Glu67Lys NC_000008.11:92095093:C:T p.(Glu67Lys) NC_000008.11:92095093:C:T p.(Glu67Lys) NC_000008.11:92095093:C:T Identity +NM_001290268.2:c.203C>T NP_001277197.1:p.Ser68Leu NC_000020.11:50620051:G:A p.(Ser68Leu) NC_000020.11:50620051:G:A p.(Ser68Leu) NC_000020.11:50620051:G:A Identity +NM_006089.3:c.1244C>G NP_006080.1:p.Pro415Arg NC_000023.11:18258072:G:C p.(Pro415Arg) NC_000023.11:18258072:G:C p.(Pro415Arg) NC_000023.11:18258072:G:C Identity +NM_000336.3:c.836T>C NP_000327.2:p.Met279Thr NC_000016.10:23367914:T:C p.(Met279Thr) NC_000016.10:23367914:T:C p.(Met279Thr) NC_000016.10:23367914:T:C Identity +NM_001145023.2:c.705G>T NP_001138495.1:p.Gln235His NC_000017.11:47838857:C:A p.(Gln235His) NC_000017.11:47838857:C:A p.(Gln235His) NC_000017.11:47838857:C:A Identity +NM_173050.5:c.2131G>A NP_766638.2:p.Glu711Lys NC_000022.11:43212514:C:T p.(Glu711Lys) NC_000022.11:43212514:C:T p.(Glu711Lys) NC_000022.11:43212514:C:T Identity +NM_001364564.1:c.532C>A NP_001351493.1:p.Pro178Thr NC_000014.9:21525189:G:T p.(Pro178Thr) NC_000014.9:21525189:G:T p.(Pro178Thr) NC_000014.9:21525189:G:T Identity +NM_001048218.2:c.1827G>C NP_001041683.1:p.Glu609Asp NC_000011.10:65537046:G:C p.(Glu609Asp) NC_000011.10:65537046:G:C p.(Glu609Asp) NC_000011.10:65537046:G:C Identity +NM_002999.4:c.531A>C NP_002990.2:p.Glu177Asp NC_000020.11:45327329:T:G p.(Glu177Asp) NC_000020.11:45327329:T:G p.(Glu177Asp) NC_000020.11:45327329:T:G Identity +NM_001007067.2:c.362A>G NP_001007068.1:p.Gln121Arg NC_000008.11:58576020:A:G p.(Gln121Arg) NC_000008.11:58576020:A:G p.(Gln121Arg) NC_000008.11:58576020:A:G Identity +NM_152608.4:c.19C>G NP_689821.3:p.Leu7Val NC_000001.11:225999293:G:C p.(Leu7Val) NC_000001.11:225999293:G:C p.(Leu7Val) NC_000001.11:225999293:G:C Identity +NM_001144952.2:c.1352G>A NP_001138424.1:p.Arg451His NC_000017.11:73431629:C:T p.(Arg451His) NC_000017.11:73431629:C:T p.(Arg451His) NC_000017.11:73431629:C:T Identity +NM_001144952.2:c.2440G>A NP_001138424.1:p.Ala814Thr NC_000017.11:73414687:C:T p.(Ala814Thr) NC_000017.11:73414687:C:T p.(Ala814Thr) NC_000017.11:73414687:C:T Identity +NM_001017373.4:c.1541G>A NP_001017373.2:p.Gly514Glu NC_000006.12:130144541:C:T p.(Gly514Glu) NC_000006.12:130144541:C:T p.(Gly514Glu) NC_000006.12:130144541:C:T Identity +NM_015380.5:c.352G>A NP_056195.3:p.Val118Ile NC_000022.11:43972264:G:A p.(Val118Ile) NC_000022.11:43972264:G:A p.(Val118Ile) NC_000022.11:43972264:G:A Identity +NM_001129993.3:c.142C>A NP_001123465.1:p.Pro48Thr NC_000002.12:61070491:C:A p.(Pro48Thr) NC_000002.12:61070491:C:A p.(Pro48Thr) NC_000002.12:61070491:C:A Identity +NM_001276418.2:c.2333C>T NP_001263347.1:p.Pro778Leu NC_000009.12:136475282:G:A p.(Pro778Leu) NC_000009.12:136475282:G:A p.(Pro778Leu) NC_000009.12:136475282:G:A Identity +NM_001024401.3:c.1186C>A NP_001019572.1:p.Pro396Thr NC_000016.10:28320831:C:A p.(Pro396Thr) NC_000016.10:28320831:C:A p.(Pro396Thr) NC_000016.10:28320831:C:A Identity +NM_001100122.2:c.1342C>T NP_001093592.1:p.Arg448Cys NC_000019.10:1119024:G:A p.(Arg448Cys) NC_000019.10:1119024:G:A p.(Arg448Cys) NC_000019.10:1119024:G:A Identity +NM_007214.5:c.1703A>T NP_009145.1:p.Glu568Val NC_000006.12:107883117:T:A p.(Glu568Val) NC_000006.12:107883117:T:A p.(Glu568Val) NC_000006.12:107883117:T:A Identity +NM_001002841.2:c.448G>A NP_001002841.1:p.Val150Ile NC_000017.11:47221815:G:A p.(Val150Ile) NC_000017.11:47221815:G:A p.(Val150Ile) NC_000017.11:47221815:G:A Identity +NM_001193489.2:c.682G>A NP_001180418.1:p.Ala228Thr NC_000015.10:49028664:C:T p.(Ala228Thr) NC_000015.10:49028664:C:T p.(Ala228Thr) NC_000015.10:49028664:C:T Identity +NM_001286188.1:c.1630C>T NP_001273117.1:p.Pro544Ser NC_000006.12:154810183:C:T p.(Pro544Ser) NC_000006.12:154810183:C:T p.(Pro544Ser) NC_000006.12:154810183:C:T Identity +NM_001145923.2:c.946C>T NP_001139395.1:p.Arg316Cys NC_000015.10:76765001:G:A p.(Arg316Cys) NC_000015.10:76765001:G:A p.(Arg316Cys) NC_000015.10:76765001:G:A Identity +NM_001145923.2:c.3244A>C NP_001139395.1:p.Asn1082His NC_000015.10:76354013:T:G p.(Asn1082His) NC_000015.10:76354013:T:G p.(Asn1082His) NC_000015.10:76354013:T:G Identity +NM_031454.2:c.806G>A NP_113642.1:p.Arg269His NC_000022.11:50208582:G:A p.(Arg269His) NC_000022.11:50208582:G:A p.? NC_000022.11:50208582:G:A Identity +NM_001290268.2:c.1987G>A NP_001277197.1:p.Val663Ile NC_000020.11:50595431:C:T p.(Val663Ile) NC_000020.11:50595431:C:T p.(Val663Ile) NC_000020.11:50595431:C:T Identity +NM_001276342.1:c.545A>G NP_001263271.1:p.His182Arg NC_000018.10:23518924:A:G p.(His182Arg) NC_000018.10:23518924:A:G p.(His182Arg) NC_000018.10:23518924:A:G Identity +NM_001286707.2:c.235G>A NP_001273636.1:p.Ala79Thr NC_000008.11:86507006:C:T p.(Ala79Thr) NC_000008.11:86507006:C:T p.(Ala79Thr) NC_000008.11:86507006:C:T Identity +NM_001288794.2:c.88G>C NP_001275723.1:p.Glu30Gln NC_000005.10:178138206:G:C p.(Glu30Gln) NC_000005.10:178138206:G:C p.(Glu30Gln) NC_000005.10:178138206:G:C Identity +NM_001324029.3:c.1421C>T NP_001310958.1:p.Pro474Leu NC_000015.10:90227963:C:T p.(Pro474Leu) NC_000015.10:90227963:C:T p.(Pro474Leu) NC_000015.10:90227963:C:T Identity +NM_001271662.2:c.673T>C NP_001258591.1:p.Phe225Leu NC_000002.12:74673777:T:C p.(Phe225Leu) NC_000002.12:74673777:T:C p.(Phe225Leu) NC_000002.12:74673777:T:C Identity +NM_001031702.4:c.3223G>T NP_001026872.2:p.Ala1075Ser NC_000003.12:122910913:C:A p.(Ala1075Ser) NC_000003.12:122910913:C:A p.(Ala1075Ser) NC_000003.12:122910913:C:A Identity +NM_032108.4:c.1343G>A NP_115484.2:p.Gly448Asp NC_000019.10:4548373:C:T p.(Gly448Asp) NC_000019.10:4548373:C:T p.(Gly448Asp) NC_000019.10:4548373:C:T Identity +NM_003469.5:c.1639A>G NP_003460.2:p.Ile547Val NC_000002.12:223597643:T:C p.(Ile547Val) NC_000002.12:223597643:T:C p.(Ile547Val) NC_000002.12:223597643:T:C Identity +NM_002407.3:c.28G>T NP_002398.1:p.Ala10Ser NC_000011.10:62208758:G:T p.(Ala10Ser) NC_000011.10:62208758:G:T p.(Ala10Ser) NC_000011.10:62208758:G:T Identity +NM_012421.4:c.4933A>G NP_036553.2:p.Ser1645Gly NC_000001.11:40239634:A:G p.(Ser1645Gly) NC_000001.11:40239634:A:G p.(Ser1645Gly) NC_000001.11:40239634:A:G Identity +NM_001170791.3:c.907C>G NP_001164262.1:p.Pro303Ala NC_000002.12:37991258:C:G p.(Pro303Ala) NC_000002.12:37991258:C:G p.(Pro303Ala) NC_000002.12:37991258:C:G Identity +NM_001100409.3:c.3164C>T NP_001093879.1:p.Pro1055Leu NC_000006.12:75715439:C:T p.(Pro1055Leu) NC_000006.12:75715439:C:T p.(Pro1055Leu) NC_000006.12:75715439:C:T Identity +NM_001198713.2:c.1226G>A NP_001185642.1:p.Arg409His NC_000017.11:58521024:C:T p.(Arg409His) NC_000017.11:58521024:C:T p.(Arg409His) NC_000017.11:58521024:C:T Identity +NM_031309.6:c.1027C>G NP_112599.2:p.Leu343Val NC_000008.11:144333204:G:C p.(Leu343Val) NC_000008.11:144333204:G:C p.(Leu343Val) NC_000008.11:144333204:G:C Identity +NM_173050.5:c.156C>A NP_766638.2:p.Asn52Lys NC_000022.11:43339167:G:T p.(Asn52Lys) NC_000022.11:43339167:G:T p.(Asn52Lys) NC_000022.11:43339167:G:T Identity +NM_020423.7:c.1968G>C NP_065156.5:p.Met656Ile NC_000001.11:169854308:C:G p.(Met656Ile) NC_000001.11:169854308:C:G p.(Met656Ile) NC_000001.11:169854308:C:G Identity +NM_014654.4:c.1094T>A NP_055469.3:p.Ile365Asn NC_000001.11:30874364:A:T p.(Ile365Asn) NC_000001.11:30874364:A:T p.(Ile365Asn) NC_000001.11:30874364:A:T Identity +NM_145267.3:c.185A>G NP_660310.2:p.Glu62Gly NC_000006.12:70579533:A:G p.(Glu62Gly) NC_000006.12:70579533:A:G p.(Glu62Gly) NC_000006.12:70579533:A:G Identity +NM_001144952.2:c.3656G>A NP_001138424.1:p.Arg1219His NC_000017.11:73394260:C:T p.(Arg1219His) NC_000017.11:73394260:C:T p.(Arg1219His) NC_000017.11:73394260:C:T Identity +NM_182757.4:c.650C>T NP_877434.2:p.Thr217Ile NC_000006.12:18459719:C:T p.(Thr217Ile) NC_000006.12:18459719:C:T p.(Thr217Ile) NC_000006.12:18459719:C:T Identity +NM_012334.3:c.3185G>A NP_036466.2:p.Ser1062Asn NC_000005.10:16701209:C:T p.(Ser1062Asn) NC_000005.10:16701209:C:T p.(Ser1062Asn) NC_000005.10:16701209:C:T Identity +NM_014712.3:c.3083A>G NP_055527.1:p.Asp1028Gly NC_000016.10:30971443:A:G p.(Asp1028Gly) NC_000016.10:30971443:A:G p.(Asp1028Gly) NC_000016.10:30971443:A:G Identity +NM_001144952.2:c.4777A>G NP_001138424.1:p.Arg1593Gly NC_000017.11:73379534:T:C p.(Arg1593Gly) NC_000017.11:73379534:T:C p.(Arg1593Gly) NC_000017.11:73379534:T:C Identity +NM_001144952.2:c.5326G>A NP_001138424.1:p.Val1776Met NC_000017.11:73361824:C:T p.(Val1776Met) NC_000017.11:73361824:C:T p.(Val1776Met) NC_000017.11:73361824:C:T Identity +NM_001144952.2:c.6035C>A NP_001138424.1:p.Thr2012Asn NC_000017.11:73350239:G:T p.(Thr2012Asn) NC_000017.11:73350239:G:T p.(Thr2012Asn) NC_000017.11:73350239:G:T Identity +NM_001257378.2:c.747G>C NP_001244307.1:p.Glu249Asp NC_000022.11:30461412:C:G p.(Glu249Asp) NC_000022.11:30461412:C:G p.(Glu249Asp) NC_000022.11:30461412:C:G Identity +NM_174903.6:c.434G>T NP_777563.2:p.Gly145Val NC_000016.10:1968620:G:T p.(Gly145Val) NC_000016.10:1968620:G:T p.(Gly145Val) NC_000016.10:1968620:G:T Identity +NM_001205252.2:c.145C>G NP_001192181.1:p.Leu49Val NC_000001.11:1072421:G:C p.(Leu49Val) NC_000001.11:1072421:G:C p.(Leu49Val) NC_000001.11:1072421:G:C Identity +NM_001252231.2:c.1082C>T NP_001239160.1:p.Pro361Leu NC_000005.10:134675147:C:T p.(Pro361Leu) NC_000005.10:134675147:C:T p.(Pro361Leu) NC_000005.10:134675147:C:T Identity +NM_015490.4:c.1211C>G NP_056305.1:p.Pro404Arg NC_000010.11:100502452:G:C p.(Pro404Arg) NC_000010.11:100502452:G:C p.(Pro404Arg) NC_000010.11:100502452:G:C Identity +NM_001142627.3:c.70A>G NP_001136099.1:p.Arg24Gly NC_000010.11:12133302:A:G p.(Arg24Gly) NC_000010.11:12133302:A:G p.(Arg24Gly) NC_000010.11:12133302:A:G Identity +NM_031287.3:c.119A>T NP_112577.1:p.Tyr40Phe NC_000006.12:144095378:T:A p.(Tyr40Phe) NC_000006.12:144095378:T:A p.(Tyr40Phe) NC_000006.12:144095378:T:A Identity +NM_173662.4:c.617C>T NP_775933.2:p.Ala206Val NC_000004.12:153720196:G:A p.(Ala206Val) NC_000004.12:153720196:G:A p.(Ala206Val) NC_000004.12:153720196:G:A Identity +NM_001146684.3:c.175C>G NP_001140156.1:p.Leu59Val NC_000017.11:8393286:G:C p.(Leu59Val) NC_000017.11:8393286:G:C p.(Leu59Val) NC_000017.11:8393286:G:C Identity +NM_001258288.2:c.694C>T NP_001245217.1:p.Pro232Ser NC_000001.11:151365809:G:A p.(Pro232Ser) NC_000001.11:151365809:G:A p.(Pro232Ser) NC_000001.11:151365809:G:A Identity +NM_018445.6:c.160C>G NP_060915.2:p.Arg54Gly NC_000015.10:101276591:G:C p.(Arg54Gly) NC_000015.10:101276591:G:C p.? NC_000015.10:101276591:G:C Identity +NM_018445.6:c.229A>G NP_060915.2:p.Lys77Glu NC_000015.10:101275343:T:C p.(Lys77Glu) NC_000015.10:101275343:T:C p.? NC_000015.10:101275343:T:C Identity +NM_001350809.1:c.928A>T NP_001337738.1:p.Ile310Phe NC_000019.10:39519109:A:T p.(Ile310Phe) NC_000019.10:39519109:A:T p.? NC_000019.10:39519109:A:T Identity +NM_001301849.2:c.1007G>A NP_001288778.1:p.Arg336His NC_000022.11:40407026:G:A p.(Arg336His) NC_000022.11:40407026:G:A p.(Arg336His) NC_000022.11:40407026:G:A Identity +NM_001145795.2:c.1921C>T NP_001139267.1:p.Pro641Ser NC_000016.10:28873469:C:T p.(Pro641Ser) NC_000016.10:28873469:C:T p.(Pro641Ser) NC_000016.10:28873469:C:T Identity +NM_003958.4:c.649G>A NP_003949.1:p.Gly217Arg NC_000006.12:37368891:G:A p.(Gly217Arg) NC_000006.12:37368891:G:A p.(Gly217Arg) NC_000006.12:37368891:G:A Identity +NM_020163.3:c.1061A>G NP_064548.1:p.Asn354Ser NC_000003.12:52440458:T:C p.(Asn354Ser) NC_000003.12:52440458:T:C p.(Asn354Ser) NC_000003.12:52440458:T:C Identity +NM_001321309.2:c.1822G>C NP_001308238.1:p.Val608Leu NC_000003.12:123707793:C:G p.(Val608Leu) NC_000003.12:123707793:C:G p.(Val608Leu) NC_000003.12:123707793:C:G Identity +NM_001371194.2:c.2059G>T NP_001358123.1:p.Val687Leu NC_000009.12:89379233:C:A p.(Val687Leu) NC_000009.12:89379233:C:A p.(Val687Leu) NC_000009.12:89379233:C:A Identity +NM_001300780.2:c.1550G>A NP_001287709.1:p.Arg517Gln NC_000005.10:116478031:C:T p.(Arg517Gln) NC_000005.10:116478031:C:T p.(Arg517Gln) NC_000005.10:116478031:C:T Identity +NM_001319182.2:c.793C>G NP_001306111.1:p.Arg265Gly NC_000001.11:201999996:C:G p.(Arg265Gly) NC_000001.11:201999996:C:G p.(Arg265Gly) NC_000001.11:201999996:C:G Identity +NM_001100409.3:c.2525G>A NP_001093879.1:p.Arg842His NC_000006.12:75702901:G:A p.(Arg842His) NC_000006.12:75702901:G:A p.(Arg842His) NC_000006.12:75702901:G:A Identity +NM_000327.4:c.524A>G NP_000318.2:p.Lys175Arg NC_000011.10:62613804:A:G p.(Lys175Arg) NC_000011.10:62613804:A:G p.(Lys175Arg) NC_000011.10:62613804:A:G Identity +NM_005012.4:c.1859A>G NP_005003.2:p.Asn620Ser NC_000001.11:64177899:A:G p.(Asn620Ser) NC_000001.11:64177899:A:G p.(Asn620Ser) NC_000001.11:64177899:A:G Identity +NM_005963.4:c.2105T>C NP_005954.3:p.Val702Ala NC_000017.11:10505880:A:G p.(Val702Ala) NC_000017.11:10505880:A:G p.(Val702Ala) NC_000017.11:10505880:A:G Identity +NM_032861.4:c.452C>T NP_116250.3:p.Ala151Val NC_000006.12:158146816:G:A p.(Ala151Val) NC_000006.12:158146816:G:A p.(Ala151Val) NC_000006.12:158146816:G:A Identity +NM_022370.4:c.1234A>G NP_071765.2:p.Thr412Ala NC_000011.10:124872455:A:G p.(Thr412Ala) NC_000011.10:124872455:A:G p.(Thr412Ala) NC_000011.10:124872455:A:G Identity +NM_005593.3:c.461C>G NP_005584.2:p.Ser154Trp NC_000012.12:80717523:C:G p.(Ser154Trp) NC_000012.12:80717523:C:G p.(Ser154Trp) NC_000012.12:80717523:C:G Identity +NM_001301088.2:c.827C>T NP_001288017.1:p.Ala276Val NC_000011.10:124894256:G:A p.(Ala276Val) NC_000011.10:124894256:G:A p.(Ala276Val) NC_000011.10:124894256:G:A Identity +NM_004560.4:c.2381C>T NP_004551.2:p.Pro794Leu NC_000009.12:91724112:G:A p.(Pro794Leu) NC_000009.12:91724112:G:A p.(Pro794Leu) NC_000009.12:91724112:G:A Identity +NM_014712.3:c.3372G>T NP_055527.1:p.Glu1124Asp NC_000016.10:30979157:G:T p.(Glu1124Asp) NC_000016.10:30979157:G:T p.(Glu1124Asp) NC_000016.10:30979157:G:T Identity +NM_178857.6:c.3160G>T NP_849188.4:p.Ala1054Ser NC_000008.11:10610937:C:A p.(Ala1054Ser) NC_000008.11:10610937:C:A p.(Ala1054Ser) NC_000008.11:10610937:C:A Identity +NM_178857.6:c.3671T>A NP_849188.4:p.Val1224Glu NC_000008.11:10610426:A:T p.(Val1224Glu) NC_000008.11:10610426:A:T p.(Val1224Glu) NC_000008.11:10610426:A:T Identity +NM_001143854.2:c.454C>T NP_001137326.1:p.Arg152Cys NC_000012.12:112868438:C:T p.(Arg152Cys) NC_000012.12:112868438:C:T p.(Arg152Cys) NC_000012.12:112868438:C:T Identity +NM_001349370.3:c.641C>T NP_001336299.1:p.Thr214Ile NC_000003.12:47123862:G:A p.(Thr214Ile) NC_000003.12:47123862:G:A p.(Thr214Ile) NC_000003.12:47123862:G:A Identity +NM_001114099.3:c.85C>G NP_001107571.1:p.Pro29Ala NC_000016.10:29897978:G:C p.(Pro29Ala) NC_000016.10:29897978:G:C p.(Pro29Ala) NC_000016.10:29897978:G:C Identity +NM_001178030.2:c.512G>T NP_001171501.1:p.Arg171Leu NC_000011.10:64776520:C:A p.(Arg171Leu) NC_000011.10:64776520:C:A p.(Arg171Leu) NC_000011.10:64776520:C:A Identity +NM_012426.5:c.3248A>G NP_036558.3:p.Asn1083Ser NC_000016.10:70569124:A:G p.(Asn1083Ser) NC_000016.10:70569124:A:G p.(Asn1083Ser) NC_000016.10:70569124:A:G Identity +NM_002950.4:c.1286C>T NP_002941.1:p.Thr429Met NC_000003.12:128625642:G:A p.(Thr429Met) NC_000003.12:128625642:G:A p.(Thr429Met) NC_000003.12:128625642:G:A Identity +NM_001006665.2:c.740G>A NP_001006666.1:p.Gly247Asp NC_000001.11:26554694:G:A p.(Gly247Asp) NC_000001.11:26554694:G:A p.(Gly247Asp) NC_000001.11:26554694:G:A Identity +NM_003015.3:c.695C>T NP_003006.2:p.Pro232Leu NC_000010.11:97767772:G:A p.(Pro232Leu) NC_000010.11:97767772:G:A p.(Pro232Leu) NC_000010.11:97767772:G:A Identity +NM_145169.3:c.407C>G NP_660152.1:p.Thr136Ser NC_000006.12:166324539:G:C p.(Thr136Ser) NC_000006.12:166324539:G:C p.(Thr136Ser) NC_000006.12:166324539:G:C Identity +NM_001308203.2:c.1684A>C NP_001295132.1:p.Ile562Leu NC_000001.11:66740697:A:C p.(Ile562Leu) NC_000001.11:66740697:A:C p.(Ile562Leu) NC_000001.11:66740697:A:C Identity +NM_016239.4:c.4975C>T NP_057323.3:p.Arg1659Trp NC_000017.11:18138213:C:T p.(Arg1659Trp) NC_000017.11:18138213:C:T p.(Arg1659Trp) NC_000017.11:18138213:C:T Identity +NM_001394463.1:c.646G>A NP_001381392.1:p.Glu216Lys NC_000002.12:85435120:G:A p.(Glu216Lys) NC_000002.12:85435120:G:A p.(Glu216Lys) NC_000002.12:85435120:G:A Identity +NM_001286407.2:c.358G>A NP_001273336.1:p.Gly120Arg NC_000015.10:40569694:G:A p.(Gly120Arg) NC_000015.10:40569694:G:A p.(Gly120Arg) NC_000015.10:40569694:G:A Identity +NM_001003698.4:c.4167G>T NP_001003698.1:p.Gln1389His NC_000006.12:7246781:G:T p.(Gln1389His) NC_000006.12:7246781:G:T p.(Gln1389His) NC_000006.12:7246781:G:T Identity +NM_001145114.1:c.1132C>T NP_001138586.1:p.Leu378Phe NC_000010.11:97381719:G:A p.(Leu378Phe) NC_000010.11:97381719:G:A p.(Leu378Phe) NC_000010.11:97381719:G:A Identity +NM_001145114.1:c.359C>T NP_001138586.1:p.Ala120Val NC_000010.11:97400314:G:A p.(Ala120Val) NC_000010.11:97400314:G:A p.(Ala120Val) NC_000010.11:97400314:G:A Identity +NM_001410702.1:c.148G>C NP_001397631.1:p.Glu50Gln NC_000002.12:6883375:G:C p.(Glu50Gln) NC_000002.12:6883375:G:C p.(Glu50Gln) NC_000002.12:6883375:G:C Identity +NM_198467.3:c.1052T>C NP_940869.2:p.Ile351Thr NC_000007.14:77749771:T:C p.(Ile351Thr) NC_000007.14:77749771:T:C p.(Ile351Thr) NC_000007.14:77749771:T:C Identity +NM_001346418.1:c.496G>A NP_001333347.1:p.Ala166Thr NC_000006.12:158999480:C:T p.(Ala166Thr) NC_000006.12:158999480:C:T p.(Ala166Thr) NC_000006.12:158999480:C:T Identity +NM_023012.6:c.277C>T NP_075388.2:p.His93Tyr NC_000012.12:122518959:G:A p.(His93Tyr) NC_000012.12:122518959:G:A p.(His93Tyr) NC_000012.12:122518959:G:A Identity +NM_001283009.2:c.505A>G NP_001269938.1:p.Ser169Gly NC_000020.11:63662855:A:G p.(Ser169Gly) NC_000020.11:63662855:A:G p.(Ser169Gly) NC_000020.11:63662855:A:G Identity +NM_001078172.2:c.65G>A NP_001071640.1:p.Arg22His NC_000023.11:135052043:C:T p.(Arg22His) NC_000023.11:135052043:C:T p.(Arg22His) NC_000023.11:135052043:C:T Identity +NM_001385449.1:c.1469G>C NP_001372378.1:p.Arg490Thr NC_000023.11:110452085:G:C p.(Arg490Thr) NC_000023.11:110452085:G:C p.(Arg490Thr) NC_000023.11:110452085:G:C Identity +NM_001385449.1:c.4097C>T NP_001372378.1:p.Pro1366Leu NC_000023.11:110455250:C:T p.(Pro1366Leu) NC_000023.11:110455250:C:T p.(Pro1366Leu) NC_000023.11:110455250:C:T Identity +NM_031440.2:c.467C>T NP_113628.1:p.Ala156Val NC_000003.12:46500666:C:T p.(Ala156Val) NC_000003.12:46500666:C:T p.(Ala156Val) NC_000003.12:46500666:C:T Identity +NM_001145642.5:c.2581C>G NP_001139114.1:p.Leu861Val NC_000003.12:197675445:G:C p.(Leu861Val) NC_000003.12:197675445:G:C p.(Leu861Val) NC_000003.12:197675445:G:C Identity +NM_198483.4:c.1448G>C NP_940885.2:p.Gly483Ala NC_000002.12:218083201:G:C p.(Gly483Ala) NC_000002.12:218083201:G:C p.(Gly483Ala) NC_000002.12:218083201:G:C Identity +NM_001135999.2:c.926C>T NP_001129471.2:p.Ser309Phe NC_000009.12:35547446:C:T p.(Ser309Phe) NC_000009.12:35547446:C:T p.(Ser309Phe) NC_000009.12:35547446:C:T Identity +NM_033411.5:c.148G>T NP_219479.2:p.Ala50Ser NC_000006.12:83194598:G:T p.(Ala50Ser) NC_000006.12:83194598:G:T p.(Ala50Ser) NC_000006.12:83194598:G:T Identity +NM_001394232.1:c.59C>T NP_001381161.1:p.Ser20Leu NC_000001.11:153540132:G:A p.(Ser20Leu) NC_000001.11:153540132:G:A p.(Ser20Leu) NC_000001.11:153540132:G:A Identity +NM_001100112.2:c.4907A>C NP_001093582.1:p.Asn1636Thr NC_000017.11:10524820:T:G p.(Asn1636Thr) NC_000017.11:10524820:T:G p.(Asn1636Thr) NC_000017.11:10524820:T:G Identity +NM_014649.3:c.2047G>A NP_055464.1:p.Glu683Lys NC_000019.10:5594050:C:T p.(Glu683Lys) NC_000019.10:5594050:C:T p.(Glu683Lys) NC_000019.10:5594050:C:T Identity +NM_171999.4:c.1985C>G NP_741996.2:p.Ser662Trp NC_000018.10:78993975:C:G p.(Ser662Trp) NC_000018.10:78993975:C:G p.(Ser662Trp) NC_000018.10:78993975:C:G Identity +NM_171999.4:c.3709G>A NP_741996.2:p.Gly1237Ser NC_000018.10:78997127:G:A p.(Gly1237Ser) NC_000018.10:78997127:G:A p.(Gly1237Ser) NC_000018.10:78997127:G:A Identity +NM_001385640.1:c.779T>C NP_001372569.1:p.Ile260Thr NC_000001.11:930323:T:C p.(Ile260Thr) NC_000001.11:930323:T:C p.(Ile260Thr) NC_000001.11:930323:T:C Identity +NM_003864.4:c.172G>A NP_003855.1:p.Ala58Thr NC_000004.12:173371353:G:A p.(Ala58Thr) NC_000004.12:173371353:G:A p.(Ala58Thr) NC_000004.12:173371353:G:A Identity +NM_017533.2:c.5399G>A NP_060003.2:p.Arg1800His NC_000017.11:10445042:C:T p.(Arg1800His) NC_000017.11:10445042:C:T p.(Arg1800His) NC_000017.11:10445042:C:T Identity +NM_001100122.2:c.3017C>A NP_001093592.1:p.Pro1006His NC_000019.10:1109533:G:T p.(Pro1006His) NC_000019.10:1109533:G:T p.(Pro1006His) NC_000019.10:1109533:G:T Identity +NM_015703.5:c.697C>T NP_056518.2:p.Arg233Cys NC_000022.11:42514165:G:A p.(Arg233Cys) NC_000022.11:42514165:G:A p.(Arg233Cys) NC_000022.11:42514165:G:A Identity +NM_018346.3:c.1126C>T NP_060816.1:p.Pro376Ser NC_000017.11:50484459:C:T p.(Pro376Ser) NC_000017.11:50484459:C:T p.(Pro376Ser) NC_000017.11:50484459:C:T Identity +NM_018346.3:c.616G>T NP_060816.1:p.Gly206Trp NC_000017.11:50482231:G:T p.(Gly206Trp) NC_000017.11:50482231:G:T p.(Gly206Trp) NC_000017.11:50482231:G:T Identity +NM_016578.4:c.1993G>A NP_057662.3:p.Asp665Asn NC_000011.10:77701235:C:T p.(Asp665Asn) NC_000011.10:77701235:C:T p.(Asp665Asn) NC_000011.10:77701235:C:T Identity +NM_015659.3:c.1295C>G NP_056474.2:p.Pro432Arg NC_000016.10:11837964:G:C p.(Pro432Arg) NC_000016.10:11837964:G:C p.(Pro432Arg) NC_000016.10:11837964:G:C Identity +NM_001271834.2:c.463A>G NP_001258763.1:p.Arg155Gly NC_000003.12:158460987:A:G p.(Arg155Gly) NC_000003.12:158460987:A:G p.(Arg155Gly) NC_000003.12:158460987:A:G Identity +NM_012425.4:c.410G>A NP_036557.1:p.Arg137His NC_000010.11:16752990:C:T p.(Arg137His) NC_000010.11:16752990:C:T p.(Arg137His) NC_000010.11:16752990:C:T Identity +NM_001134888.3:c.2155A>G NP_001128360.1:p.Ile719Val NC_000014.9:100882633:T:C p.(Ile719Val) NC_000014.9:100882633:T:C p.(Ile719Val) NC_000014.9:100882633:T:C Identity +NM_153334.7:c.1769C>A NP_699165.3:p.Pro590Gln NC_000022.11:20426221:G:T p.(Pro590Gln) NC_000022.11:20426221:G:T p.(Pro590Gln) NC_000022.11:20426221:G:T Identity +NM_016510.7:c.150G>T NP_057594.5:p.Met50Ile NC_000002.12:238064416:G:T p.(Met50Ile) NC_000002.12:238064416:G:T p.(Met50Ile) NC_000002.12:238064416:G:T Identity +NM_020884.7:c.3334C>G NP_065935.4:p.Gln1112Glu NC_000020.11:34997149:C:G p.(Gln1112Glu) NC_000020.11:34997149:C:G p.(Gln1112Glu) NC_000020.11:34997149:C:G Identity +NM_178483.3:c.347T>C NP_848578.1:p.Met116Thr NC_000020.11:18814161:T:C p.(Met116Thr) NC_000020.11:18814161:T:C p.(Met116Thr) NC_000020.11:18814161:T:C Identity +NM_021626.3:c.917G>A NP_067639.1:p.Arg306Gln NC_000017.11:56998420:G:A p.(Arg306Gln) NC_000017.11:56998420:G:A p.(Arg306Gln) NC_000017.11:56998420:G:A Identity +NM_015356.5:c.4277A>G NP_056171.3:p.Glu1426Gly NC_000008.11:143792535:T:C p.(Glu1426Gly) NC_000008.11:143792535:T:C p.(Glu1426Gly) NC_000008.11:143792535:T:C Identity +NM_001145513.1:c.204A>G NP_001138985.1:p.Ile68Met NC_000007.14:29955315:T:C p.(Ile68Met) NC_000007.14:29955315:T:C p.(Ile68Met) NC_000007.14:29955315:T:C Identity +NM_002472.3:c.196A>G NP_002463.2:p.Thr66Ala NC_000017.11:10420031:T:C p.(Thr66Ala) NC_000017.11:10420031:T:C p.(Thr66Ala) NC_000017.11:10420031:T:C Identity +NM_006923.4:c.32G>T NP_008854.2:p.Gly11Val NC_000017.11:28661844:C:A p.(Gly11Val) NC_000017.11:28661844:C:A p.(Gly11Val) NC_000017.11:28661844:C:A Identity +NM_022044.3:c.442C>T NP_071327.2:p.Arg148Cys NC_000022.11:21643950:C:T p.(Arg148Cys) NC_000022.11:21643950:C:T p.(Arg148Cys) NC_000022.11:21643950:C:T Identity +NM_002473.6:c.3307C>T NP_002464.1:p.Leu1103Phe NC_000022.11:36295682:G:A p.(Leu1103Phe) NC_000022.11:36295682:G:A p.(Leu1103Phe) NC_000022.11:36295682:G:A Identity +NM_001356505.2:c.2264G>A NP_001343434.1:p.Arg755His NC_000001.11:177937452:C:T p.(Arg755His) NC_000001.11:177937452:C:T p.(Arg755His) NC_000001.11:177937452:C:T Identity +NM_004922.4:c.422C>A NP_004913.2:p.Ser141Tyr NC_000010.11:73759734:C:A p.(Ser141Tyr) NC_000010.11:73759734:C:A p.(Ser141Tyr) NC_000010.11:73759734:C:A Identity +NM_001077206.4:c.3048C>G NP_001070674.1:p.Cys1016Trp NC_000004.12:82824575:G:C p.(Cys1016Trp) NC_000004.12:82824575:G:C p.(Cys1016Trp) NC_000004.12:82824575:G:C Identity +NM_001363650.2:c.85G>A NP_001350579.1:p.Asp29Asn NC_000004.12:679933:G:A p.(Asp29Asn) NC_000004.12:679933:G:A p.(Asp29Asn) NC_000004.12:679933:G:A Identity +NM_001199629.2:c.451C>T NP_001186558.1:p.Arg151Cys NC_000012.12:56155522:C:T p.(Arg151Cys) NC_000012.12:56155522:C:T p.(Arg151Cys) NC_000012.12:56155522:C:T Identity +NM_001350120.2:c.1186T>C NP_001337049.1:p.Cys396Arg NC_000007.14:80789527:A:G p.(Cys396Arg) NC_000007.14:80789527:A:G p.(Cys396Arg) NC_000007.14:80789527:A:G Identity +NM_020163.3:c.353A>G NP_064548.1:p.Asn118Ser NC_000003.12:52442290:T:C p.(Asn118Ser) NC_000003.12:52442290:T:C p.(Asn118Ser) NC_000003.12:52442290:T:C Identity +NM_003966.3:c.1742A>C NP_003957.2:p.Gln581Pro NC_000005.10:9122694:T:G p.(Gln581Pro) NC_000005.10:9122694:T:G p.(Gln581Pro) NC_000005.10:9122694:T:G Identity +NM_001031702.4:c.2152C>G NP_001026872.2:p.Pro718Ala NC_000003.12:122913661:G:C p.(Pro718Ala) NC_000003.12:122913661:G:C p.(Pro718Ala) NC_000003.12:122913661:G:C Identity +NM_001300780.2:c.2729C>A NP_001287709.1:p.Ala910Asp NC_000005.10:116447027:G:T p.(Ala910Asp) NC_000005.10:116447027:G:T p.(Ala910Asp) NC_000005.10:116447027:G:T Identity +NM_001321496.2:c.433C>T NP_001308425.1:p.Arg145Cys NC_000002.12:109565789:G:A p.(Arg145Cys) NC_000002.12:109565789:G:A p.(Arg145Cys) NC_000002.12:109565789:G:A Identity +NM_001284334.2:c.596C>T NP_001271263.1:p.Ser199Leu NC_000022.11:42572491:C:T p.(Ser199Leu) NC_000022.11:42572491:C:T p.(Ser199Leu) NC_000022.11:42572491:C:T Identity +NM_012334.3:c.2111C>T NP_036466.2:p.Thr704Met NC_000005.10:16710965:G:A p.(Thr704Met) NC_000005.10:16710965:G:A p.(Thr704Met) NC_000005.10:16710965:G:A Identity +NM_004155.6:c.889A>G NP_004146.1:p.Lys297Glu NC_000006.12:2890404:T:C p.(Lys297Glu) NC_000006.12:2890404:T:C p.(Lys297Glu) NC_000006.12:2890404:T:C Identity +NM_013376.4:c.382C>A NP_037508.2:p.Leu128Met NC_000019.10:40423164:G:T p.(Leu128Met) NC_000019.10:40423164:G:T p.(Leu128Met) NC_000019.10:40423164:G:T Identity +NM_001354173.2:c.152G>A NP_001341102.1:p.Arg51Gln NC_000001.11:210238111:G:A p.(Arg51Gln) NC_000001.11:210238111:G:A p.(Arg51Gln) NC_000001.11:210238111:G:A Identity +NM_014712.3:c.1304C>T NP_055527.1:p.Pro435Leu NC_000016.10:30965045:C:T p.(Pro435Leu) NC_000016.10:30965045:C:T p.(Pro435Leu) NC_000016.10:30965045:C:T Identity +NM_001184773.2:c.1955A>C NP_001171702.1:p.Glu652Ala NC_000022.11:26313841:A:C p.(Glu652Ala) NC_000022.11:26313841:A:C p.(Glu652Ala) NC_000022.11:26313841:A:C Identity +NM_001114100.3:c.356C>T NP_001107572.1:p.Ala119Val NC_000016.10:29896976:G:A p.(Ala119Val) NC_000016.10:29896976:G:A p.(Ala119Val) NC_000016.10:29896976:G:A Identity +NM_001261411.2:c.1537G>A NP_001248340.1:p.Asp513Asn NC_000012.12:131755467:G:A p.(Asp513Asn) NC_000012.12:131755467:G:A p.(Asp513Asn) NC_000012.12:131755467:G:A Identity +NM_001261411.2:c.1639G>A NP_001248340.1:p.Glu547Lys NC_000012.12:131756562:G:A p.(Glu547Lys) NC_000012.12:131756562:G:A p.(Glu547Lys) NC_000012.12:131756562:G:A Identity +NM_213649.2:c.971C>T NP_998814.1:p.Ser324Phe NC_000010.11:119141284:G:A p.(Ser324Phe) NC_000010.11:119141284:G:A p.(Ser324Phe) NC_000010.11:119141284:G:A Identity +NM_003901.4:c.412G>T NP_003892.2:p.Ala138Ser NC_000010.11:70857615:G:T p.(Ala138Ser) NC_000010.11:70857615:G:T p.(Ala138Ser) NC_000010.11:70857615:G:T Identity +NM_001291424.1:c.206A>G NP_001278353.1:p.Asn69Ser NC_000012.12:111446831:A:G p.(Asn69Ser) NC_000012.12:111446831:A:G p.(Asn69Ser) NC_000012.12:111446831:A:G Identity +NM_031286.4:c.232G>C NP_112576.1:p.Val78Leu NC_000001.11:26281072:G:C p.(Val78Leu) NC_000001.11:26281072:G:C p.(Val78Leu) NC_000001.11:26281072:G:C Identity +NM_001018009.4:c.485A>G NP_001018009.2:p.Gln162Arg NC_000003.12:15257046:T:C p.(Gln162Arg) NC_000003.12:15257046:T:C p.(Gln162Arg) NC_000003.12:15257046:T:C Identity +NM_001322462.1:c.668C>T NP_001309391.1:p.Ala223Val NC_000001.11:248812056:G:A p.(Ala223Val) NC_000001.11:248812056:G:A p.(Ala223Val) NC_000001.11:248812056:G:A Identity +NM_001265589.2:c.2477A>G NP_001252518.1:p.Lys826Arg NC_000011.10:63720978:A:G p.(Lys826Arg) NC_000011.10:63720978:A:G p.(Lys826Arg) NC_000011.10:63720978:A:G Identity +NM_001321859.2:c.2093C>T NP_001308788.1:p.Pro698Leu NC_000002.12:55025387:G:A p.(Pro698Leu) NC_000002.12:55025387:G:A p.(Pro698Leu) NC_000002.12:55025387:G:A Identity +NM_178570.3:c.761A>G NP_848665.1:p.Glu254Gly NC_000011.10:57476408:A:G p.(Glu254Gly) NC_000011.10:57476408:A:G p.(Glu254Gly) NC_000011.10:57476408:A:G Identity +NM_001256121.2:c.601A>T NP_001243050.1:p.Ser201Cys NC_000001.11:32826699:A:T p.(Ser201Cys) NC_000001.11:32826699:A:T p.(Ser201Cys) NC_000001.11:32826699:A:T Identity +NM_001256121.2:c.932C>T NP_001243050.1:p.Pro311Leu NC_000001.11:32829974:C:T p.(Pro311Leu) NC_000001.11:32829974:C:T p.(Pro311Leu) NC_000001.11:32829974:C:T Identity +NM_001385640.1:c.998C>A NP_001372569.1:p.Ser333Tyr NC_000001.11:939069:C:A p.(Ser333Tyr) NC_000001.11:939069:C:A p.(Ser333Tyr) NC_000001.11:939069:C:A Identity +NM_001166034.2:c.176C>T NP_001159506.1:p.Thr59Met NC_000019.10:35528105:G:A p.(Thr59Met) NC_000019.10:35528105:G:A p.(Thr59Met) NC_000019.10:35528105:G:A Identity +NM_004719.3:c.3141G>T NP_004710.2:p.Trp1047Cys NC_000012.12:45926559:C:A p.(Trp1047Cys) NC_000012.12:45926559:C:A p.(Trp1047Cys) NC_000012.12:45926559:C:A Identity +NM_153334.7:c.1715C>T NP_699165.3:p.Pro572Leu NC_000022.11:20426275:G:A p.(Pro572Leu) NC_000022.11:20426275:G:A p.(Pro572Leu) NC_000022.11:20426275:G:A Identity +NM_001160706.2:c.206A>G NP_001154178.1:p.His69Arg NC_000013.11:77559847:A:G p.(His69Arg) NC_000013.11:77559847:A:G p.(His69Arg) NC_000013.11:77559847:A:G Identity +NM_020884.7:c.3970C>T NP_065935.4:p.Arg1324Cys NC_000020.11:34998605:C:T p.(Arg1324Cys) NC_000020.11:34998605:C:T p.(Arg1324Cys) NC_000020.11:34998605:C:T Identity +NM_001038.6:c.337C>G NP_001029.1:p.Pro113Ala NC_000012.12:6374446:G:C p.(Pro113Ala) NC_000012.12:6374446:G:C p.(Pro113Ala) NC_000012.12:6374446:G:C Identity +NM_020884.7:c.409G>A NP_065935.4:p.Val137Ile NC_000020.11:34980643:G:A p.(Val137Ile) NC_000020.11:34980643:G:A p.(Val137Ile) NC_000020.11:34980643:G:A Identity +NM_001330199.3:c.1702G>C NP_001317128.1:p.Val568Leu NC_000011.10:9047948:C:G p.(Val568Leu) NC_000011.10:9047948:C:G p.(Val568Leu) NC_000011.10:9047948:C:G Identity +NM_001048218.2:c.125C>T NP_001041683.1:p.Pro42Leu NC_000011.10:65525586:C:T p.(Pro42Leu) NC_000011.10:65525586:C:T p.(Pro42Leu) NC_000011.10:65525586:C:T Identity +NM_020423.7:c.373G>A NP_065156.5:p.Val125Ile NC_000001.11:169876069:C:T p.(Val125Ile) NC_000001.11:169876069:C:T p.(Val125Ile) NC_000001.11:169876069:C:T Identity +NM_001288983.2:c.1808C>T NP_001275912.1:p.Ser603Leu NC_000004.12:75956071:G:A p.(Ser603Leu) NC_000004.12:75956071:G:A p.(Ser603Leu) NC_000004.12:75956071:G:A Identity +NM_001199784.2:c.452A>G NP_001186713.1:p.Gln151Arg NC_000020.11:1312694:T:C p.(Gln151Arg) NC_000020.11:1312694:T:C p.(Gln151Arg) NC_000020.11:1312694:T:C Identity +NM_001291932.2:c.26G>A NP_001278861.1:p.Arg9Gln NC_000022.11:30407107:G:A p.(Arg9Gln) NC_000022.11:30407107:G:A p.(Arg9Gln) NC_000022.11:30407107:G:A Identity +NM_033505.4:c.1024G>T NP_277040.1:p.Val342Phe NC_000002.12:26386464:G:T p.(Val342Phe) NC_000002.12:26386464:G:T p.? NC_000002.12:26386464:G:T Identity +NM_031454.2:c.376G>A NP_113642.1:p.Gly126Ser NC_000022.11:50201411:G:A p.(Gly126Ser) NC_000022.11:50201411:G:A p.? NC_000022.11:50201411:G:A Identity +NM_021223.3:c.26G>A NP_067046.1:p.Arg9Gln NC_000007.14:44141051:C:T p.(Arg9Gln) NC_000007.14:44141051:C:T p.(Arg9Gln) NC_000007.14:44141051:C:T Identity +NM_001350809.1:c.872C>T NP_001337738.1:p.Pro291Leu NC_000019.10:39518776:C:T p.(Pro291Leu) NC_000019.10:39518776:C:T p.? NC_000019.10:39518776:C:T Identity +NM_001321309.2:c.4189G>A NP_001308238.1:p.Val1397Met NC_000003.12:123640406:C:T p.(Val1397Met) NC_000003.12:123640406:C:T p.(Val1397Met) NC_000003.12:123640406:C:T Identity +NM_207366.3:c.224C>G NP_997249.2:p.Thr75Ser NC_000007.14:55844669:G:C p.(Thr75Ser) NC_000007.14:55844669:G:C p.(Thr75Ser) NC_000007.14:55844669:G:C Identity +NM_001198713.2:c.905T>C NP_001185642.1:p.Ile302Thr NC_000017.11:58521632:A:G p.(Ile302Thr) NC_000017.11:58521632:A:G p.(Ile302Thr) NC_000017.11:58521632:A:G Identity +NM_001009939.3:c.211C>A NP_001009939.1:p.His71Asn NC_000022.11:19719837:C:A p.(His71Asn) NC_000022.11:19719837:C:A p.(His71Asn) NC_000022.11:19719837:C:A Identity +NM_012334.3:c.2773C>A NP_036466.2:p.Gln925Lys NC_000005.10:16701621:G:T p.(Gln925Lys) NC_000005.10:16701621:G:T p.(Gln925Lys) NC_000005.10:16701621:G:T Identity +NM_001353345.2:c.4550G>A NP_001340274.1:p.Arg1517Lys NC_000012.12:121823128:G:A p.(Arg1517Lys) NC_000012.12:121823128:G:A p.(Arg1517Lys) NC_000012.12:121823128:G:A Identity +NM_001351527.2:c.7160T>G NP_001338456.1:p.Val2387Gly NC_000009.12:132271748:A:C p.(Val2387Gly) NC_000009.12:132271748:A:C p.(Val2387Gly) NC_000009.12:132271748:A:C Identity +NM_001178030.2:c.305C>T NP_001171501.1:p.Pro102Leu NC_000011.10:64778087:G:A p.(Pro102Leu) NC_000011.10:64778087:G:A p.(Pro102Leu) NC_000011.10:64778087:G:A Identity +NM_001007467.3:c.3721C>G NP_001007468.1:p.Leu1241Val NC_000022.11:31618409:C:G p.(Leu1241Val) NC_000022.11:31618409:C:G p.(Leu1241Val) NC_000022.11:31618409:C:G Identity +NM_001018039.1:c.1850G>A NP_001018049.1:p.Arg617Gln NC_000010.11:7176123:C:T p.(Arg617Gln) NC_000010.11:7176123:C:T p.(Arg617Gln) NC_000010.11:7176123:C:T Identity +NM_030791.4:c.364C>T NP_110418.1:p.Arg122Cys NC_000014.9:63727580:G:A p.(Arg122Cys) NC_000014.9:63727580:G:A p.(Arg122Cys) NC_000014.9:63727580:G:A Identity +NM_001098509.2:c.2260G>C NP_001091979.1:p.Glu754Gln NC_000017.11:2375785:G:C p.(Glu754Gln) NC_000017.11:2375785:G:C p.(Glu754Gln) NC_000017.11:2375785:G:C Identity +NM_001301849.2:c.827A>T NP_001288778.1:p.Asp276Val NC_000022.11:40406492:A:T p.(Asp276Val) NC_000022.11:40406492:A:T p.(Asp276Val) NC_000022.11:40406492:A:T Identity +NM_001318480.2:c.3023G>A NP_001305409.2:p.Arg1008Gln NC_000004.12:8233481:G:A p.(Arg1008Gln) NC_000004.12:8233481:G:A p.(Arg1008Gln) NC_000004.12:8233481:G:A Identity +NM_001099289.3:c.1252G>T NP_001092759.1:p.Ala418Ser NC_000002.12:109398895:G:T p.(Ala418Ser) NC_000002.12:109398895:G:T p.(Ala418Ser) NC_000002.12:109398895:G:T Identity +NM_001318480.2:c.2917G>C NP_001305409.2:p.Ala973Pro NC_000004.12:8233375:G:C p.(Ala973Pro) NC_000004.12:8233375:G:C p.(Ala973Pro) NC_000004.12:8233375:G:C Identity +NM_001372044.2:c.3064C>G NP_001358973.1:p.Pro1022Ala NC_000022.11:50720671:C:G ERR:TranscriptMismatch:expected C, found G at transcript indices 3433..3434 NC_000022.11:50720710:G:G ERR:NM_001372044.2:c.3064C>G: Variant reference (C) does not agree with reference sequence (G) ERR:NM_001372044.2:c.3064C>G: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001042693.3:c.208G>A NP_001036158.1:p.Val70Ile NC_000001.11:52642887:G:A p.(Val70Ile) NC_000001.11:52642887:G:A p.(Val70Ile) NC_000001.11:52642887:G:A Identity +NM_001172700.2:c.971T>C NP_001166171.1:p.Ile324Thr NC_000005.10:132825169:A:G p.(Ile324Thr) NC_000005.10:132825169:A:G p.(Ile324Thr) NC_000005.10:132825169:A:G Identity +NM_001145176.2:c.1319A>C NP_001138648.1:p.Asp440Ala NC_000019.10:55433453:T:G p.(Asp440Ala) NC_000019.10:55433453:T:G p.(Asp440Ala) NC_000019.10:55433453:T:G Identity +NM_001207020.3:c.634C>T NP_001193949.1:p.Leu212Phe NC_000022.11:41911245:G:A p.(Leu212Phe) NC_000022.11:41911245:G:A p.(Leu212Phe) NC_000022.11:41911245:G:A Identity +NM_001099294.2:c.535G>A NP_001092764.1:p.Val179Met NC_000022.11:44285491:C:T p.(Val179Met) NC_000022.11:44285491:C:T p.(Val179Met) NC_000022.11:44285491:C:T Identity +NM_001301168.2:c.530T>G NP_001288097.2:p.Phe177Cys NC_000015.10:45178274:A:C p.(Phe177Cys) NC_000015.10:45178274:A:C p.(Phe177Cys) NC_000015.10:45178274:A:C Identity +NM_001173461.2:c.208G>T NP_001166932.1:p.Ala70Ser NC_000017.11:11241629:G:T p.(Ala70Ser) NC_000017.11:11241629:G:T p.(Ala70Ser) NC_000017.11:11241629:G:T Identity +NM_001367089.1:c.268A>G NP_001354018.1:p.Met90Val NC_000020.11:3706487:T:C p.(Met90Val) NC_000020.11:3706487:T:C p.(Met90Val) NC_000020.11:3706487:T:C Identity +NM_001367089.1:c.3815C>A NP_001354018.1:p.Pro1272His NC_000020.11:3692735:G:T p.(Pro1272His) NC_000020.11:3692735:G:T p.(Pro1272His) NC_000020.11:3692735:G:T Identity +NM_001308437.2:c.83C>A NP_001295366.1:p.Ala28Glu NC_000019.10:51265836:C:A p.(Ala28Glu) NC_000019.10:51265836:C:A p.(Ala28Glu) NC_000019.10:51265836:C:A Identity +NM_001318480.2:c.1762G>A NP_001305409.2:p.Glu588Lys NC_000004.12:8227683:G:A p.(Glu588Lys) NC_000004.12:8227683:G:A p.(Glu588Lys) NC_000004.12:8227683:G:A Identity +NM_001198950.3:c.3518T>C NP_001185879.1:p.Ile1173Thr NC_000013.11:109120448:T:C p.(Ile1173Thr) NC_000013.11:109120448:T:C p.(Ile1173Thr) NC_000013.11:109120448:T:C Identity +NM_001330112.2:c.1316G>T NP_001317041.1:p.Ser439Ile NC_000010.11:87152669:G:T p.(Ser439Ile) NC_000010.11:87152669:G:T p.(Ser439Ile) NC_000010.11:87152669:G:T Identity +NM_001080551.3:c.307G>C NP_001074020.3:p.Glu103Gln NC_000009.12:111758175:C:G p.(Glu103Gln) NC_000009.12:111758175:C:G p.(Glu103Gln) NC_000009.12:111758175:C:G Identity +NM_020859.4:c.3136G>A NP_065910.3:p.Gly1046Arg NC_000004.12:76741308:G:A p.(Gly1046Arg) NC_000004.12:76741308:G:A p.(Gly1046Arg) NC_000004.12:76741308:G:A Identity +NM_001042683.3:c.2209C>G NP_001036148.2:p.His737Asp NC_000006.12:145943171:G:C p.(His737Asp) NC_000006.12:145943171:G:C p.(His737Asp) NC_000006.12:145943171:G:C Identity +NM_001649.4:c.1135G>A NP_001640.1:p.Gly379Arg NC_000023.11:9895042:G:A p.(Gly379Arg) NC_000023.11:9895042:G:A p.(Gly379Arg) NC_000023.11:9895042:G:A Identity +NM_001649.4:c.616C>T NP_001640.1:p.Arg206Cys NC_000023.11:9894523:C:T p.(Arg206Cys) NC_000023.11:9894523:C:T p.(Arg206Cys) NC_000023.11:9894523:C:T Identity +NM_001102396.2:c.17A>G NP_001095866.1:p.Glu6Gly NC_000001.11:114780590:T:C p.(Glu6Gly) NC_000001.11:114780590:T:C p.(Glu6Gly) NC_000001.11:114780590:T:C Identity +NM_001198950.3:c.433G>A NP_001185879.1:p.Asp145Asn NC_000013.11:108727508:G:A p.(Asp145Asn) NC_000013.11:108727508:G:A p.(Asp145Asn) NC_000013.11:108727508:G:A Identity +NM_001387056.1:c.519C>A NP_001373985.1:p.Asn173Lys NC_000019.10:440881:G:T p.(Asn173Lys) NC_000019.10:440881:G:T p.(Asn173Lys) NC_000019.10:440881:G:T Identity +NM_001324318.2:c.622G>C NP_001311247.1:p.Asp208His NC_000016.10:46604414:C:G p.(Asp208His) NC_000016.10:46604414:C:G p.(Asp208His) NC_000016.10:46604414:C:G Identity +NM_001010846.3:c.1096T>G NP_001010846.1:p.Trp366Gly NC_000001.11:154486611:A:C p.(Trp366Gly) NC_000001.11:154486611:A:C p.(Trp366Gly) NC_000001.11:154486611:A:C Identity +NM_198149.3:c.347G>A NP_937792.2:p.Arg116His NC_000001.11:201890554:G:A p.(Arg116His) NC_000001.11:201890554:G:A p.(Arg116His) NC_000001.11:201890554:G:A Identity +NM_001412258.1:c.909G>A NP_001399187.1:p.Met303Ile NC_000019.10:51499465:C:T ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found +NM_001363548.1:c.1042G>A NP_001350477.1:p.Glu348Lys NC_000019.10:51452557:C:T p.(Glu348Lys) NC_000019.10:51452557:C:T p.(Glu348Lys) NC_000019.10:51452557:C:T Identity +NM_001318245.2:c.584C>T NP_001305174.1:p.Thr195Ile NC_000022.11:25768499:C:T p.(Thr195Ile) NC_000022.11:25768499:C:T p.(Thr195Ile) NC_000022.11:25768499:C:T Identity +NM_006929.5:c.266C>T NP_008860.4:p.Ser89Phe NC_000006.12:31960248:C:T p.(Ser89Phe) NC_000006.12:31960248:C:T p.(Ser89Phe) NC_000006.12:31960248:C:T Identity +NM_014639.4:c.2254G>A NP_055454.1:p.Val752Ile NC_000005.10:95517182:C:T p.(Val752Ile) NC_000005.10:95517182:C:T p.(Val752Ile) NC_000005.10:95517182:C:T Identity +NM_001367089.1:c.1662G>T NP_001354018.1:p.Glu554Asp NC_000020.11:3699325:C:A p.(Glu554Asp) NC_000020.11:3699325:C:A p.(Glu554Asp) NC_000020.11:3699325:C:A Identity +NM_001412258.1:c.1487C>T NP_001399187.1:p.Pro496Leu NC_000019.10:51491791:G:A ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found +NM_001277201.2:c.134G>A NP_001264130.1:p.Arg45His NC_000019.10:51142502:G:A p.(Arg45His) NC_000019.10:51142502:G:A p.(Arg45His) NC_000019.10:51142502:G:A Identity +NM_001198558.1:c.1160C>T NP_001185487.1:p.Thr387Met NC_000019.10:51128466:C:T p.(Thr387Met) NC_000019.10:51128466:C:T p.(Thr387Met) NC_000019.10:51128466:C:T Identity +NM_001297595.2:c.1160G>A NP_001284524.1:p.Arg387Gln NC_000019.10:16862452:G:A p.(Arg387Gln) NC_000019.10:16862452:G:A p.(Arg387Gln) NC_000019.10:16862452:G:A Identity +NM_001377488.1:c.2867A>G NP_001364417.1:p.Asn956Ser NC_000001.11:232461114:T:C p.(Asn956Ser) NC_000001.11:232461114:T:C p.(Asn956Ser) NC_000001.11:232461114:T:C Identity +NM_001377488.1:c.4051A>G NP_001364417.1:p.Ser1351Gly NC_000001.11:232432451:T:C p.(Ser1351Gly) NC_000001.11:232432451:T:C p.(Ser1351Gly) NC_000001.11:232432451:T:C Identity +NM_001042683.3:c.184A>G NP_001036148.2:p.Lys62Glu NC_000006.12:145955138:T:C p.(Lys62Glu) NC_000006.12:145955138:T:C p.(Lys62Glu) NC_000006.12:145955138:T:C Identity +NM_001649.4:c.2911C>T NP_001640.1:p.Arg971Trp NC_000023.11:9932193:C:T p.(Arg971Trp) NC_000023.11:9932193:C:T p.(Arg971Trp) NC_000023.11:9932193:C:T Identity +NM_014639.4:c.1027G>T NP_055454.1:p.Gly343Cys NC_000005.10:95528119:C:A p.(Gly343Cys) NC_000005.10:95528119:C:A p.(Gly343Cys) NC_000005.10:95528119:C:A Identity +NM_001040153.4:c.986G>A NP_001035243.2:p.Arg329Gln NC_000013.11:77760890:G:A p.(Arg329Gln) NC_000013.11:77760890:G:A p.(Arg329Gln) NC_000013.11:77760890:G:A Identity +NM_001318192.2:c.274G>T NP_001305121.1:p.Val92Phe NC_000007.14:135708204:C:A p.(Val92Phe) NC_000007.14:135708204:C:A p.(Val92Phe) NC_000007.14:135708204:C:A Identity +NM_201566.3:c.1058G>A NP_963860.1:p.Gly353Glu NC_000017.11:7038865:G:A p.(Gly353Glu) NC_000017.11:7038865:G:A p.(Gly353Glu) NC_000017.11:7038865:G:A Identity +NM_005069.6:c.68T>C NP_005060.1:p.Leu23Pro NC_000021.9:36699813:T:C p.(Leu23Pro) NC_000021.9:36699813:T:C p.(Leu23Pro) NC_000021.9:36699813:T:C Identity +NM_001145357.2:c.3481A>T NP_001138829.1:p.Ser1161Cys NC_000015.10:75375774:T:A p.(Ser1161Cys) NC_000015.10:75375774:T:A p.(Ser1161Cys) NC_000015.10:75375774:T:A Identity +NM_000338.3:c.1835G>A NP_000329.2:p.Gly612Glu NC_000015.10:48251662:G:A p.(Gly612Glu) NC_000015.10:48251662:G:A p.(Gly612Glu) NC_000015.10:48251662:G:A Identity +NM_001046.3:c.377G>A NP_001037.1:p.Ser126Asn NC_000005.10:128084330:G:A p.(Ser126Asn) NC_000005.10:128084330:G:A p.(Ser126Asn) NC_000005.10:128084330:G:A Identity +NM_006598.3:c.1285C>T NP_006589.2:p.Pro429Ser NC_000005.10:1081588:G:A p.(Pro429Ser) NC_000005.10:1081588:G:A p.(Pro429Ser) NC_000005.10:1081588:G:A Identity +NM_001033580.3:c.537G>A NP_001028752.1:p.Met179Ile NC_000017.11:36515867:C:T p.(Met179Ile) NC_000017.11:36515867:C:T p.(Met179Ile) NC_000017.11:36515867:C:T Identity +NM_001363493.2:c.1910C>T NP_001350422.1:p.Pro637Leu NC_000007.14:100865769:C:T p.(Pro637Leu) NC_000007.14:100865769:C:T p.(Pro637Leu) NC_000007.14:100865769:C:T Identity +NM_001098486.2:c.41G>C NP_001091956.1:p.Ser14Thr NC_000006.12:25868346:C:G p.(Ser14Thr) NC_000006.12:25868346:C:G p.(Ser14Thr) NC_000006.12:25868346:C:G Identity +NM_001145288.2:c.262A>G NP_001138760.1:p.Ile88Val NC_000012.12:100380860:A:G p.(Ile88Val) NC_000012.12:100380860:A:G p.(Ile88Val) NC_000012.12:100380860:A:G Identity +NM_001080779.2:c.1707C>A NP_001074248.1:p.Asn569Lys NC_000017.11:1474820:G:T p.(Asn569Lys) NC_000017.11:1474820:G:T p.(Asn569Lys) NC_000017.11:1474820:G:T Identity +NM_001145144.2:c.721G>A NP_001138616.1:p.Val241Ile NC_000019.10:46775730:C:T p.(Val241Ile) NC_000019.10:46775730:C:T p.(Val241Ile) NC_000019.10:46775730:C:T Identity +NM_001257180.2:c.1534G>A NP_001244109.1:p.Gly512Ser NC_000008.11:42430238:C:T p.(Gly512Ser) NC_000008.11:42430238:C:T p.(Gly512Ser) NC_000008.11:42430238:C:T Identity +NM_001303279.2:c.1063A>C NP_001290208.1:p.Ile355Leu NC_000017.11:32760599:T:G p.(Ile355Leu) NC_000017.11:32760599:T:G p.(Ile355Leu) NC_000017.11:32760599:T:G Identity +NM_001041.4:c.3011C>A NP_001032.2:p.Ala1004Glu NC_000003.12:165023657:G:T p.(Ala1004Glu) NC_000003.12:165023657:G:T p.(Ala1004Glu) NC_000003.12:165023657:G:T Identity +NM_001308350.2:c.1301G>A NP_001295279.1:p.Arg434Gln NC_000003.12:113603996:G:A p.(Arg434Gln) NC_000003.12:113603996:G:A p.(Arg434Gln) NC_000003.12:113603996:G:A Identity +NM_001308350.2:c.1667G>A NP_001295279.1:p.Gly556Glu NC_000003.12:113608482:G:A p.(Gly556Glu) NC_000003.12:113608482:G:A p.(Gly556Glu) NC_000003.12:113608482:G:A Identity +NM_001367089.1:c.3476G>A NP_001354018.1:p.Arg1159His NC_000020.11:3693478:C:T p.(Arg1159His) NC_000020.11:3693478:C:T p.(Arg1159His) NC_000020.11:3693478:C:T Identity +NM_052884.3:c.1610T>C NP_443116.2:p.Val537Ala NC_000019.10:49958323:A:G p.(Val537Ala) NC_000019.10:49958323:A:G p.(Val537Ala) NC_000019.10:49958323:A:G Identity +NM_001412258.1:c.1358G>A NP_001399187.1:p.Arg453Lys NC_000019.10:51496970:C:T ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001412258.1, alt_ac=NM_001412258.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001412258.1 not found +NM_001324400.1:c.584G>A NP_001311329.1:p.Gly195Asp NC_000007.14:123129457:C:T p.(Gly195Asp) NC_000007.14:123129457:C:T p.(Gly195Asp) NC_000007.14:123129457:C:T Identity +NM_001242692.2:c.788T>C NP_001229621.1:p.Val263Ala NC_000018.10:45637126:T:C p.(Val263Ala) NC_000018.10:45637126:T:C p.(Val263Ala) NC_000018.10:45637126:T:C Identity +NM_005074.5:c.142G>A NP_005065.2:p.Val48Met NC_000006.12:25826525:C:T p.(Val48Met) NC_000006.12:25826525:C:T p.(Val48Met) NC_000006.12:25826525:C:T Identity +NM_004998.4:c.1466T>C NP_004989.2:p.Ile489Thr NC_000015.10:59208744:A:G p.(Ile489Thr) NC_000015.10:59208744:A:G p.(Ile489Thr) NC_000015.10:59208744:A:G Identity +NM_014252.4:c.901T>C NP_055067.1:p.Tyr301His NC_000013.11:40809661:T:C p.(Tyr301His) NC_000013.11:40809661:T:C p.(Tyr301His) NC_000013.11:40809661:T:C Identity +NM_207371.4:c.1942T>G NP_997254.3:p.Leu648Val NC_000010.11:21515880:A:C p.(Leu648Val) NC_000010.11:21515880:A:C p.(Leu648Val) NC_000010.11:21515880:A:C Identity +NM_001145098.3:c.1250A>T NP_001138570.1:p.Gln417Leu NC_000003.12:170384645:A:T p.(Gln417Leu) NC_000003.12:170384645:A:T p.(Gln417Leu) NC_000003.12:170384645:A:T Identity +NM_020346.3:c.1046G>A NP_065079.1:p.Gly349Asp NC_000011.10:22374758:G:A p.(Gly349Asp) NC_000011.10:22374758:G:A p.(Gly349Asp) NC_000011.10:22374758:G:A Identity +NM_001135691.3:c.1234C>A NP_001129163.1:p.Pro412Thr NC_000008.11:20147698:G:T p.(Pro412Thr) NC_000008.11:20147698:G:T p.(Pro412Thr) NC_000008.11:20147698:G:T Identity +NM_001080779.2:c.1425C>G NP_001074248.1:p.Asn475Lys NC_000017.11:1477947:G:C p.(Asn475Lys) NC_000017.11:1477947:G:C p.(Asn475Lys) NC_000017.11:1477947:G:C Identity +NM_001287595.2:c.1665G>C NP_001274524.1:p.Lys555Asn NC_000001.11:53088203:C:G p.(Lys555Asn) NC_000001.11:53088203:C:G p.(Lys555Asn) NC_000001.11:53088203:C:G Identity +NM_004998.4:c.40C>T NP_004989.2:p.His14Tyr NC_000015.10:59272412:G:A p.(His14Tyr) NC_000015.10:59272412:G:A p.(His14Tyr) NC_000015.10:59272412:G:A Identity +NM_013386.5:c.436G>A NP_037518.3:p.Glu146Lys NC_000001.11:108161255:C:T p.(Glu146Lys) NC_000001.11:108161255:C:T p.(Glu146Lys) NC_000001.11:108161255:C:T Identity +NM_001143780.3:c.158C>T NP_001137252.1:p.Ser53Phe NC_000017.11:44322839:G:A p.(Ser53Phe) NC_000017.11:44322839:G:A p.(Ser53Phe) NC_000017.11:44322839:G:A Identity +NM_001143780.3:c.182A>G NP_001137252.1:p.Tyr61Cys NC_000017.11:44322815:T:C p.(Tyr61Cys) NC_000017.11:44322815:T:C p.(Tyr61Cys) NC_000017.11:44322815:T:C Identity +NM_001012755.5:c.349C>T NP_001012773.2:p.Arg117Cys NC_000023.11:104104908:G:A p.(Arg117Cys) NC_000023.11:104104908:G:A p.(Arg117Cys) NC_000023.11:104104908:G:A Identity +NM_001145357.2:c.1906A>T NP_001138829.1:p.Ile636Leu NC_000015.10:75396444:T:A p.(Ile636Leu) NC_000015.10:75396444:T:A p.(Ile636Leu) NC_000015.10:75396444:T:A Identity +NM_001135811.2:c.245C>T NP_001129283.1:p.Ala82Val NC_000012.12:31293914:G:A p.(Ala82Val) NC_000012.12:31293914:G:A p.(Ala82Val) NC_000012.12:31293914:G:A Identity +NM_006747.4:c.67C>T NP_006738.3:p.Leu23Phe NC_000011.10:65640987:C:T p.(Leu23Phe) NC_000011.10:65640987:C:T p.(Leu23Phe) NC_000011.10:65640987:C:T Identity +NM_015073.3:c.3262G>A NP_055888.1:p.Ala1088Thr NC_000019.10:38141301:G:A p.(Ala1088Thr) NC_000019.10:38141301:G:A p.(Ala1088Thr) NC_000019.10:38141301:G:A Identity +NM_015073.3:c.5293G>A NP_055888.1:p.Glu1765Lys NC_000019.10:38206186:G:A p.(Glu1765Lys) NC_000019.10:38206186:G:A p.(Glu1765Lys) NC_000019.10:38206186:G:A Identity +NM_001286455.1:c.1088A>C NP_001273384.1:p.His363Pro NC_000006.12:3273184:T:G p.(His363Pro) NC_000006.12:3273184:T:G p.(His363Pro) NC_000006.12:3273184:T:G Identity +NM_001282726.2:c.37A>G NP_001269655.1:p.Met13Val NC_000022.11:40794547:T:C p.(Met13Val) NC_000022.11:40794547:T:C p.(Met13Val) NC_000022.11:40794547:T:C Identity +NM_024103.3:c.218G>A NP_077008.2:p.Arg73His NC_000019.10:6458262:C:T p.(Arg73His) NC_000019.10:6458262:C:T p.(Arg73His) NC_000019.10:6458262:C:T Identity +NM_004212.4:c.1646T>C NP_004203.2:p.Leu549Ser NC_000015.10:45270273:T:C p.(Leu549Ser) NC_000015.10:45270273:T:C p.(Leu549Ser) NC_000015.10:45270273:T:C Identity +NM_001354798.2:c.77C>T NP_001341727.1:p.Pro26Leu NC_000003.12:39389501:C:T p.(Pro26Leu) NC_000003.12:39389501:C:T p.(Pro26Leu) NC_000003.12:39389501:C:T Identity +NM_173637.4:c.404G>A NP_775908.2:p.Gly135Glu NC_000019.10:6430120:C:T p.(Gly135Glu) NC_000019.10:6430120:C:T p.(Gly135Glu) NC_000019.10:6430120:C:T Identity +NM_001303249.3:c.482A>C NP_001290178.1:p.Lys161Thr NC_000005.10:110748181:A:C p.(Lys161Thr) NC_000005.10:110748181:A:C p.(Lys161Thr) NC_000005.10:110748181:A:C Identity +NM_145176.3:c.709C>T NP_660159.1:p.Leu237Phe NC_000006.12:134029115:G:A p.(Leu237Phe) NC_000006.12:134029115:G:A p.(Leu237Phe) NC_000006.12:134029115:G:A Identity +NM_207420.3:c.833G>T NP_997303.2:p.Arg278Leu NC_000001.11:9014750:C:A p.(Arg278Leu) NC_000001.11:9014750:C:A p.(Arg278Leu) NC_000001.11:9014750:C:A Identity +NM_001040454.1:c.1658C>A NP_001035544.1:p.Ser553Tyr NC_000003.12:48628512:G:T p.(Ser553Tyr) NC_000003.12:48628512:G:T p.(Ser553Tyr) NC_000003.12:48628512:G:T Identity +NM_001348355.2:c.508A>C NP_001335284.1:p.Lys170Gln NC_000019.10:8552160:T:G p.(Lys170Gln) NC_000019.10:8552160:T:G p.(Lys170Gln) NC_000019.10:8552160:T:G Identity +NM_001287761.2:c.1253C>G NP_001274690.1:p.Ala418Gly NC_000015.10:84944652:C:G p.(Ala418Gly) NC_000015.10:84944652:C:G p.(Ala418Gly) NC_000015.10:84944652:C:G Identity +NM_001199633.2:c.568G>C NP_001186562.1:p.Ala190Pro NC_000009.12:84299681:C:G p.(Ala190Pro) NC_000009.12:84299681:C:G p.(Ala190Pro) NC_000009.12:84299681:C:G Identity +NM_001300868.2:c.1138G>A NP_001287797.1:p.Val380Met NC_000011.10:66364345:C:T p.(Val380Met) NC_000011.10:66364345:C:T p.(Val380Met) NC_000011.10:66364345:C:T Identity +NM_033054.3:c.2500G>A NP_149043.2:p.Ala834Thr NC_000007.14:44964970:C:T p.(Ala834Thr) NC_000007.14:44964970:C:T p.(Ala834Thr) NC_000007.14:44964970:C:T Identity +NM_001029858.4:c.896T>G NP_001025029.2:p.Phe299Cys NC_000006.12:118285231:T:G p.(Phe299Cys) NC_000006.12:118285231:T:G p.(Phe299Cys) NC_000006.12:118285231:T:G Identity +NM_001320537.2:c.8G>A NP_001307466.1:p.Arg3Gln NC_000021.9:42518461:G:A p.(Arg3Gln) NC_000021.9:42518461:G:A p.(Arg3Gln) NC_000021.9:42518461:G:A Identity +NM_001242692.2:c.470G>T NP_001229621.1:p.Gly157Val NC_000018.10:45627095:G:T p.(Gly157Val) NC_000018.10:45627095:G:T p.(Gly157Val) NC_000018.10:45627095:G:T Identity +NM_001042422.3:c.365C>T NP_001035887.1:p.Thr122Met NC_000017.11:82236869:C:T p.(Thr122Met) NC_000017.11:82236869:C:T p.(Thr122Met) NC_000017.11:82236869:C:T Identity +NM_001271765.2:c.731G>A NP_001258694.1:p.Gly244Asp NC_000017.11:75100393:G:A p.(Gly244Asp) NC_000017.11:75100393:G:A p.(Gly244Asp) NC_000017.11:75100393:G:A Identity +NM_145176.3:c.1083G>A NP_660159.1:p.Met361Ile NC_000006.12:134028741:C:T p.(Met361Ile) NC_000006.12:134028741:C:T p.(Met361Ile) NC_000006.12:134028741:C:T Identity +NM_001271711.2:c.637C>T NP_001258640.1:p.His213Tyr NC_000009.12:127402666:C:T p.(His213Tyr) NC_000009.12:127402666:C:T p.(His213Tyr) NC_000009.12:127402666:C:T Identity +NM_001369608.1:c.1207G>T NP_001356537.1:p.Ala403Ser NC_000016.10:58671068:C:A p.(Ala403Ser) NC_000016.10:58671068:C:A p.(Ala403Ser) NC_000016.10:58671068:C:A Identity +NM_001308384.2:c.194T>G NP_001295313.1:p.Leu65Arg NC_000016.10:58679932:A:C p.(Leu65Arg) NC_000016.10:58679932:A:C p.(Leu65Arg) NC_000016.10:58679932:A:C Identity +NM_001159770.2:c.518C>T NP_001153242.1:p.Pro173Leu NC_000017.11:72849737:G:A p.(Pro173Leu) NC_000017.11:72849737:G:A p.(Pro173Leu) NC_000017.11:72849737:G:A Identity +NM_001128225.3:c.805C>A NP_001121697.2:p.Leu269Met NC_000011.10:47414794:C:A p.(Leu269Met) NC_000011.10:47414794:C:A p.(Leu269Met) NC_000011.10:47414794:C:A Identity +NM_001206920.2:c.868G>A NP_001193849.1:p.Ala290Thr NC_000014.9:57571955:C:T p.(Ala290Thr) NC_000014.9:57571955:C:T p.(Ala290Thr) NC_000014.9:57571955:C:T Identity +NM_001284498.2:c.1250A>G NP_001271427.1:p.Lys417Arg NC_000017.11:1583315:T:C p.(Lys417Arg) NC_000017.11:1583315:T:C p.(Lys417Arg) NC_000017.11:1583315:T:C Identity +NM_001114106.3:c.856G>T NP_001107578.1:p.Gly286Trp NC_000001.11:94842094:G:T p.(Gly286Trp) NC_000001.11:94842094:G:T p.(Gly286Trp) NC_000001.11:94842094:G:T Identity +NM_001080431.3:c.2192G>A NP_001073900.1:p.Arg731His NC_000008.11:141211646:C:T p.(Arg731His) NC_000008.11:141211646:C:T p.(Arg731His) NC_000008.11:141211646:C:T Identity +NM_003057.3:c.1123C>T NP_003048.1:p.Leu375Phe NC_000006.12:160139713:C:T p.(Leu375Phe) NC_000006.12:160139713:C:T p.(Leu375Phe) NC_000006.12:160139713:C:T Identity +NM_003057.3:c.32T>C NP_003048.1:p.Val11Ala NC_000006.12:160121966:T:C p.(Val11Ala) NC_000006.12:160121966:T:C p.(Val11Ala) NC_000006.12:160121966:T:C Identity +NM_018484.4:c.1283C>A NP_060954.1:p.Thr428Asn NC_000011.10:64568678:C:A p.(Thr428Asn) NC_000011.10:64568678:C:A p.(Thr428Asn) NC_000011.10:64568678:C:A Identity +NM_033125.4:c.1551T>G NP_149116.2:p.Ser517Arg NC_000006.12:110425055:A:C p.(Ser517Arg) NC_000006.12:110425055:A:C p.(Ser517Arg) NC_000006.12:110425055:A:C Identity +NM_018158.3:c.83C>T NP_060628.3:p.Ser28Phe NC_000002.12:27663996:C:T p.(Ser28Phe) NC_000002.12:27663996:C:T p.(Ser28Phe) NC_000002.12:27663996:C:T Identity +NM_018158.3:c.89C>T NP_060628.3:p.Ala30Val NC_000002.12:27664002:C:T p.(Ala30Val) NC_000002.12:27664002:C:T p.(Ala30Val) NC_000002.12:27664002:C:T Identity +NM_022468.5:c.824T>C NP_071913.1:p.Leu275Pro NC_000016.10:3057194:T:C p.(Leu275Pro) NC_000016.10:3057194:T:C p.(Leu275Pro) NC_000016.10:3057194:T:C Identity +NM_001080467.3:c.1976A>G NP_001073936.1:p.Lys659Arg NC_000018.10:49936278:T:C p.(Lys659Arg) NC_000018.10:49936278:T:C p.(Lys659Arg) NC_000018.10:49936278:T:C Identity +NM_014227.3:c.1700C>T NP_055042.1:p.Thr567Ile NC_000022.11:32220987:G:A p.(Thr567Ile) NC_000022.11:32220987:G:A p.(Thr567Ile) NC_000022.11:32220987:G:A Identity +NM_001145056.2:c.2036C>T NP_001138528.1:p.Ser679Leu NC_000019.10:10643305:C:T p.(Ser679Leu) NC_000019.10:10643305:C:T p.(Ser679Leu) NC_000019.10:10643305:C:T Identity +NM_001348250.2:c.109A>G NP_001335179.1:p.Lys37Glu NC_000003.12:11017319:A:G p.(Lys37Glu) NC_000003.12:11017319:A:G p.(Lys37Glu) NC_000003.12:11017319:A:G Identity +NM_001366322.1:c.953C>T NP_001353251.1:p.Ala318Val NC_000016.10:89197324:G:A p.(Ala318Val) NC_000016.10:89197324:G:A p.(Ala318Val) NC_000016.10:89197324:G:A Identity +NM_004998.4:c.2192A>G NP_004989.2:p.Glu731Gly NC_000015.10:59173887:T:C p.(Glu731Gly) NC_000015.10:59173887:T:C p.(Glu731Gly) NC_000015.10:59173887:T:C Identity +NM_003705.5:c.4G>T NP_003696.2:p.Ala2Ser NC_000002.12:171894210:C:A p.(Ala2Ser) NC_000002.12:171894210:C:A p.(Ala2Ser) NC_000002.12:171894210:C:A Identity +NM_001303484.2:c.376C>T NP_001290413.1:p.Leu126Phe NC_000022.11:17583500:C:T p.(Leu126Phe) NC_000022.11:17583500:C:T p.(Leu126Phe) NC_000022.11:17583500:C:T Identity +NM_004998.4:c.3094A>C NP_004989.2:p.Thr1032Pro NC_000015.10:59138353:T:G p.(Thr1032Pro) NC_000015.10:59138353:T:G p.(Thr1032Pro) NC_000015.10:59138353:T:G Identity +NM_032034.4:c.58C>T NP_114423.1:p.His20Tyr NC_000020.11:3237621:G:A p.(His20Tyr) NC_000020.11:3237621:G:A p.(His20Tyr) NC_000020.11:3237621:G:A Identity +NM_001199692.3:c.2639C>T NP_001186621.1:p.Pro880Leu NC_000007.14:151074141:C:T p.(Pro880Leu) NC_000007.14:151074141:C:T p.(Pro880Leu) NC_000007.14:151074141:C:T Identity +NM_001258413.3:c.223A>T NP_001245342.1:p.Ile75Phe NC_000016.10:24875668:A:T p.(Ile75Phe) NC_000016.10:24875668:A:T p.(Ile75Phe) NC_000016.10:24875668:A:T Identity +NM_003041.4:c.1133T>C NP_003032.1:p.Leu378Pro NC_000016.10:31488624:T:C p.(Leu378Pro) NC_000016.10:31488624:T:C p.(Leu378Pro) NC_000016.10:31488624:T:C Identity +NM_006598.3:c.329G>A NP_006589.2:p.Arg110Gln NC_000005.10:1093545:C:T p.(Arg110Gln) NC_000005.10:1093545:C:T p.(Arg110Gln) NC_000005.10:1093545:C:T Identity +NM_001024845.3:c.1055T>C NP_001020016.1:p.Leu352Pro NC_000001.11:44001534:A:G p.(Leu352Pro) NC_000001.11:44001534:A:G p.(Leu352Pro) NC_000001.11:44001534:A:G Identity +NM_001011547.3:c.466G>T NP_001011547.2:p.Val156Phe NC_000001.11:48229420:G:T p.(Val156Phe) NC_000001.11:48229420:G:T p.(Val156Phe) NC_000001.11:48229420:G:T Identity +NM_031212.4:c.121G>A NP_112489.3:p.Ala41Thr NC_000010.11:99620214:C:T p.(Ala41Thr) NC_000010.11:99620214:C:T p.(Ala41Thr) NC_000010.11:99620214:C:T Identity +NM_207348.3:c.829C>T NP_997231.1:p.Arg277Cys NC_000001.11:15739319:C:T p.(Arg277Cys) NC_000001.11:15739319:C:T p.(Arg277Cys) NC_000001.11:15739319:C:T Identity +NM_001166347.2:c.493A>G NP_001159819.1:p.Ile165Val NC_000017.11:80223316:A:G p.(Ile165Val) NC_000017.11:80223316:A:G p.(Ile165Val) NC_000017.11:80223316:A:G Identity +NM_178527.4:c.1302G>T NP_848622.2:p.Leu434Phe NC_000001.11:173548547:C:A p.(Leu434Phe) NC_000001.11:173548547:C:A p.(Leu434Phe) NC_000001.11:173548547:C:A Identity +NM_001371097.1:c.97G>A NP_001358026.1:p.Ala33Thr NC_000012.12:20855039:G:A p.(Ala33Thr) NC_000012.12:20855039:G:A p.(Ala33Thr) NC_000012.12:20855039:G:A Identity +NM_001145945.2:c.290C>T NP_001139417.1:p.Thr97Ile NC_000012.12:20705966:C:T p.(Thr97Ile) NC_000012.12:20705966:C:T p.(Thr97Ile) NC_000012.12:20705966:C:T Identity +NM_032290.4:c.1223A>T NP_115666.2:p.Glu408Val NC_000005.10:94663762:A:T p.(Glu408Val) NC_000005.10:94663762:A:T p.(Glu408Val) NC_000005.10:94663762:A:T Identity +NM_016582.3:c.109G>A NP_057666.1:p.Ala37Thr NC_000011.10:60951442:C:T p.(Ala37Thr) NC_000011.10:60951442:C:T p.(Ala37Thr) NC_000011.10:60951442:C:T Identity +NM_001129820.2:c.1195C>A NP_001123292.1:p.Gln399Lys NC_000017.11:35553438:G:T p.(Gln399Lys) NC_000017.11:35553438:G:T p.(Gln399Lys) NC_000017.11:35553438:G:T Identity +NM_001384609.1:c.1853T>C NP_001371538.1:p.Val618Ala NC_000013.11:87677240:T:C p.(Val618Ala) NC_000013.11:87677240:T:C p.(Val618Ala) NC_000013.11:87677240:T:C Identity +NM_001371097.1:c.646G>A NP_001358026.1:p.Gly216Arg NC_000012.12:20862772:G:A p.(Gly216Arg) NC_000012.12:20862772:G:A p.(Gly216Arg) NC_000012.12:20862772:G:A Identity +NM_000260.4:c.3009G>T NP_000251.3:p.Lys1003Asn NC_000011.10:77182054:G:T p.(Lys1003Asn) NC_000011.10:77182054:G:T p.(Lys1003Asn) NC_000011.10:77182054:G:T Identity +NM_001282356.2:c.829A>C NP_001269285.1:p.Asn277His NC_000008.11:91338182:A:C p.(Asn277His) NC_000008.11:91338182:A:C p.(Asn277His) NC_000008.11:91338182:A:C Identity +NM_001317929.4:c.1366C>T NP_001304858.3:p.Pro456Ser NC_000001.11:153778471:C:T p.(Pro456Ser) NC_000001.11:153778471:C:T p.(Pro456Ser) NC_000001.11:153778471:C:T Identity +NM_005094.4:c.523C>G NP_005085.2:p.Arg175Gly NC_000009.12:128345515:C:G p.(Arg175Gly) NC_000009.12:128345515:C:G p.(Arg175Gly) NC_000009.12:128345515:C:G Identity +NM_001017372.3:c.541G>A NP_001017372.1:p.Gly181Arg NC_000005.10:128985191:G:A p.(Gly181Arg) NC_000005.10:128985191:G:A p.(Gly181Arg) NC_000005.10:128985191:G:A Identity +NM_001003688.1:c.671C>T NP_001003688.1:p.Pro224Leu NC_000004.12:145542593:C:T p.(Pro224Leu) NC_000004.12:145542593:C:T p.(Pro224Leu) NC_000004.12:145542593:C:T Identity +NM_001318810.2:c.2141G>T NP_001305739.1:p.Gly714Val NC_000003.12:165188689:C:A p.(Gly714Val) NC_000003.12:165188689:C:A p.(Gly714Val) NC_000003.12:165188689:C:A Identity +NM_001384609.1:c.441T>G NP_001371538.1:p.Asp147Glu NC_000013.11:87675828:T:G p.(Asp147Glu) NC_000013.11:87675828:T:G p.(Asp147Glu) NC_000013.11:87675828:T:G Identity +NM_001286121.1:c.494G>T NP_001273050.1:p.Gly165Val NC_000006.12:25770961:G:T p.(Gly165Val) NC_000006.12:25770961:G:T p.(Gly165Val) NC_000006.12:25770961:G:T Identity +NM_003038.5:c.199C>G NP_003029.2:p.Leu67Val NC_000002.12:64989841:C:G p.(Leu67Val) NC_000002.12:64989841:C:G p.(Leu67Val) NC_000002.12:64989841:C:G Identity +NM_004256.4:c.881C>T NP_004247.2:p.Ala294Val NC_000003.12:38275443:C:T p.(Ala294Val) NC_000003.12:38275443:C:T p.(Ala294Val) NC_000003.12:38275443:C:T Identity +NM_014006.2:c.5423A>G NP_054725.1:p.Tyr1808Cys NC_000016.10:18838113:T:C ERR:Data provider error: ValueError: Transcript NM_014006.2 not found ERR:Data provider error: ValueError: Transcript NM_014006.2 not found ERR:AlignmentMapper(tx_ac=NM_014006.2, alt_ac=NM_014006.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014006.2, alt_ac=NM_014006.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014006.2 not found +NM_001323614.2:c.2008G>A NP_001310543.1:p.Asp670Asn NC_000001.11:156263417:C:T p.(Asp670Asn) NC_000001.11:156263417:C:T p.(Asp670Asn) NC_000001.11:156263417:C:T Identity +NM_001256827.2:c.1199G>A NP_001243756.1:p.Arg400His NC_000017.11:2065591:C:T p.(Arg400His) NC_000017.11:2065591:C:T p.(Arg400His) NC_000017.11:2065591:C:T Identity +NM_001174061.2:c.3136A>G NP_001167532.1:p.Arg1046Gly NC_000001.11:183550878:A:G p.(Arg1046Gly) NC_000001.11:183550878:A:G p.(Arg1046Gly) NC_000001.11:183550878:A:G Identity +NM_019108.4:c.248C>T NP_061981.2:p.Thr83Ile NC_000019.10:43747874:G:A p.(Thr83Ile) NC_000019.10:43747874:G:A p.(Thr83Ile) NC_000019.10:43747874:G:A Identity +NM_001080527.2:c.3254G>A NP_001073996.1:p.Arg1085Gln NC_000002.12:127612536:G:A p.(Arg1085Gln) NC_000002.12:127612536:G:A p.(Arg1085Gln) NC_000002.12:127612536:G:A Identity +NM_001130420.3:c.8T>C NP_001123892.1:p.Val3Ala NC_000012.12:56189453:A:G p.(Val3Ala) NC_000012.12:56189453:A:G p.(Val3Ala) NC_000012.12:56189453:A:G Identity +NM_001098426.2:c.101C>T NP_001091896.1:p.Pro34Leu NC_000017.11:63842573:G:A p.(Pro34Leu) NC_000017.11:63842573:G:A p.(Pro34Leu) NC_000017.11:63842573:G:A Identity +NM_001101421.4:c.1493A>G NP_001094891.4:p.His498Arg NC_000012.12:109411975:A:G p.(His498Arg) NC_000012.12:109411975:A:G p.(His498Arg) NC_000012.12:109411975:A:G Identity +NM_001271711.2:c.379C>T NP_001258640.1:p.Arg127Cys NC_000009.12:127398063:C:T p.(Arg127Cys) NC_000009.12:127398063:C:T p.(Arg127Cys) NC_000009.12:127398063:C:T Identity +NM_001376929.1:c.1124A>T NP_001363858.1:p.Asp375Val NC_000001.11:219915593:T:A p.(Asp375Val) NC_000001.11:219915593:T:A p.(Asp375Val) NC_000001.11:219915593:T:A Identity +NM_001167740.2:c.275G>T NP_001161212.1:p.Ser92Ile NC_000001.11:246335427:C:A p.(Ser92Ile) NC_000001.11:246335427:C:A p.(Ser92Ile) NC_000001.11:246335427:C:A Identity +NM_001167740.2:c.416A>C NP_001161212.1:p.Asp139Ala NC_000001.11:246327315:T:G p.(Asp139Ala) NC_000001.11:246327315:T:G p.(Asp139Ala) NC_000001.11:246327315:T:G Identity +NM_001256827.2:c.1496G>A NP_001243756.1:p.Arg499Gln NC_000017.11:2061531:C:T p.(Arg499Gln) NC_000017.11:2061531:C:T p.(Arg499Gln) NC_000017.11:2061531:C:T Identity +NM_001136506.2:c.903A>T NP_001129978.2:p.Arg301Ser NC_000011.10:63104225:T:A p.(Arg301Ser) NC_000011.10:63104225:T:A p.(Arg301Ser) NC_000011.10:63104225:T:A Identity +NM_001193288.3:c.229A>G NP_001180217.1:p.Arg77Gly NC_000009.12:19786637:T:C p.(Arg77Gly) NC_000009.12:19786637:T:C p.(Arg77Gly) NC_000009.12:19786637:T:C Identity +NM_004998.4:c.2299G>C NP_004989.2:p.Ala767Pro NC_000015.10:59173780:C:G p.(Ala767Pro) NC_000015.10:59173780:C:G p.(Ala767Pro) NC_000015.10:59173780:C:G Identity +NM_001242792.2:c.1532C>G NP_001229721.1:p.Thr511Arg NC_000006.12:83593641:G:C p.(Thr511Arg) NC_000006.12:83593641:G:C p.(Thr511Arg) NC_000006.12:83593641:G:C Identity +NM_001308100.2:c.562G>C NP_001295029.1:p.Gly188Arg NC_000005.10:122423157:G:C p.(Gly188Arg) NC_000005.10:122423157:G:C p.(Gly188Arg) NC_000005.10:122423157:G:C Identity +NM_021021.4:c.391A>G NP_066301.1:p.Lys131Glu NC_000008.11:120811452:T:C p.(Lys131Glu) NC_000008.11:120811452:T:C p.(Lys131Glu) NC_000008.11:120811452:T:C Identity +NM_001032278.3:c.155A>C NP_001027449.1:p.Lys52Thr NC_000017.11:35779279:T:G p.(Lys52Thr) NC_000017.11:35779279:T:G p.(Lys52Thr) NC_000017.11:35779279:T:G Identity +NM_022739.4:c.652G>A NP_073576.1:p.Ala218Thr NC_000017.11:64580908:C:T p.(Ala218Thr) NC_000017.11:64580908:C:T p.(Ala218Thr) NC_000017.11:64580908:C:T Identity +NM_052928.3:c.1635C>A NP_443160.2:p.Asn545Lys NC_000017.11:1787506:G:T p.(Asn545Lys) NC_000017.11:1787506:G:T p.(Asn545Lys) NC_000017.11:1787506:G:T Identity +NM_052928.3:c.1786G>C NP_443160.2:p.Asp596His NC_000017.11:1786907:C:G p.(Asp596His) NC_000017.11:1786907:C:G p.(Asp596His) NC_000017.11:1786907:C:G Identity +NM_001101421.4:c.811G>A NP_001094891.4:p.Ala271Thr NC_000012.12:109404041:G:A p.(Ala271Thr) NC_000012.12:109404041:G:A p.(Ala271Thr) NC_000012.12:109404041:G:A Identity +NM_001097599.2:c.723T>G NP_001091068.1:p.Ile241Met NC_000003.12:136855182:T:G p.(Ile241Met) NC_000003.12:136855182:T:G p.(Ile241Met) NC_000003.12:136855182:T:G Identity +NM_181776.3:c.332G>A NP_861441.2:p.Arg111His NC_000005.10:151343521:C:T p.(Arg111His) NC_000005.10:151343521:C:T p.(Arg111His) NC_000005.10:151343521:C:T Identity +NM_001286139.2:c.73G>A NP_001273068.1:p.Val25Met NC_000011.10:93180858:C:T p.(Val25Met) NC_000011.10:93180858:C:T p.(Val25Met) NC_000011.10:93180858:C:T Identity +NM_001286139.2:c.247C>T NP_001273068.1:p.Pro83Ser NC_000011.10:93168059:G:A p.(Pro83Ser) NC_000011.10:93168059:G:A p.(Pro83Ser) NC_000011.10:93168059:G:A Identity +NM_001195279.2:c.407C>T NP_001182208.1:p.Thr136Ile NC_000003.12:12541883:G:A p.(Thr136Ile) NC_000003.12:12541883:G:A p.(Thr136Ile) NC_000003.12:12541883:G:A Identity +NM_022468.5:c.19C>T NP_071913.1:p.Leu7Phe NC_000016.10:3046935:C:T p.(Leu7Phe) NC_000016.10:3046935:C:T p.(Leu7Phe) NC_000016.10:3046935:C:T Identity +NM_001199148.2:c.1048G>T NP_001186077.1:p.Ala350Ser NC_000002.12:164898609:C:A p.(Ala350Ser) NC_000002.12:164898609:C:A p.(Ala350Ser) NC_000002.12:164898609:C:A Identity +NM_001318844.2:c.301A>G NP_001305773.1:p.Ile101Val NC_000014.9:77751347:T:C p.(Ile101Val) NC_000014.9:77751347:T:C p.(Ile101Val) NC_000014.9:77751347:T:C Identity +NM_024798.3:c.61G>A NP_079074.2:p.Glu21Lys NC_000015.10:64151835:G:A p.(Glu21Lys) NC_000015.10:64151835:G:A p.(Glu21Lys) NC_000015.10:64151835:G:A Identity +NM_001330723.2:c.1447G>C NP_001317652.1:p.Gly483Arg NC_000001.11:151692967:G:C p.(Gly483Arg) NC_000001.11:151692967:G:C p.(Gly483Arg) NC_000001.11:151692967:G:C Identity +NM_003082.4:c.493A>G NP_003073.1:p.Ser165Gly NC_000014.9:61768698:A:G p.(Ser165Gly) NC_000014.9:61768698:A:G p.(Ser165Gly) NC_000014.9:61768698:A:G Identity +NM_001242935.3:c.1199C>T NP_001229864.1:p.Ser400Leu NC_000005.10:122451143:C:T p.(Ser400Leu) NC_000005.10:122451143:C:T p.(Ser400Leu) NC_000005.10:122451143:C:T Identity +NM_014390.4:c.454T>G NP_055205.2:p.Cys152Gly NC_000007.14:127701187:T:G p.(Cys152Gly) NC_000007.14:127701187:T:G p.(Cys152Gly) NC_000007.14:127701187:T:G Identity +NM_014014.5:c.4625T>C NP_054733.2:p.Met1542Thr NC_000002.12:96283672:A:G p.(Met1542Thr) NC_000002.12:96283672:A:G p.(Met1542Thr) NC_000002.12:96283672:A:G Identity +NM_021021.4:c.751G>A NP_066301.1:p.Val251Ile NC_000008.11:120693728:C:T p.(Val251Ile) NC_000008.11:120693728:C:T p.(Val251Ile) NC_000008.11:120693728:C:T Identity +NM_207348.3:c.436A>G NP_997231.1:p.Asn146Asp NC_000001.11:15737985:A:G p.(Asn146Asp) NC_000001.11:15737985:A:G p.(Asn146Asp) NC_000001.11:15737985:A:G Identity +NM_001348355.2:c.1609C>T NP_001335284.1:p.Arg537Trp NC_000019.10:8540017:G:A p.(Arg537Trp) NC_000019.10:8540017:G:A p.(Arg537Trp) NC_000019.10:8540017:G:A Identity +NM_001321298.2:c.251A>T NP_001308227.1:p.Tyr84Phe NC_000019.10:6427460:T:A p.(Tyr84Phe) NC_000019.10:6427460:T:A p.(Tyr84Phe) NC_000019.10:6427460:T:A Identity +NM_018968.4:c.533G>C NP_061841.2:p.Gly178Ala NC_000002.12:1173124:G:C p.(Gly178Ala) NC_000002.12:1173124:G:C p.(Gly178Ala) NC_000002.12:1173124:G:C Identity +NM_001350862.2:c.548A>G NP_001337791.1:p.Asp183Gly NC_000007.14:17875682:T:C p.(Asp183Gly) NC_000007.14:17875682:T:C p.(Asp183Gly) NC_000007.14:17875682:T:C Identity +NM_001347918.2:c.1678G>A NP_001334847.2:p.Glu560Lys NC_000011.10:130911767:C:T p.(Glu560Lys) NC_000011.10:130911767:C:T p.(Glu560Lys) NC_000011.10:130911767:C:T Identity +NM_001364903.1:c.947T>C NP_001351832.1:p.Ile316Thr NC_000001.11:98738249:T:C p.(Ile316Thr) NC_000001.11:98738249:T:C p.(Ile316Thr) NC_000001.11:98738249:T:C Identity +NM_002478.5:c.874G>A NP_002469.2:p.Glu292Lys NC_000011.10:17721418:G:A p.(Glu292Lys) NC_000011.10:17721418:G:A p.(Glu292Lys) NC_000011.10:17721418:G:A Identity +NM_014978.3:c.589A>T NP_055793.1:p.Asn197Tyr NC_000010.11:104641915:A:T p.(Asn197Tyr) NC_000010.11:104641915:A:T p.(Asn197Tyr) NC_000010.11:104641915:A:T Identity +NM_003105.6:c.2866A>G NP_003096.2:p.Ile956Val NC_000011.10:121558792:A:G p.(Ile956Val) NC_000011.10:121558792:A:G p.(Ile956Val) NC_000011.10:121558792:A:G Identity +NM_001411020.1:c.1661A>C NP_001397949.1:p.Glu554Ala NC_000014.9:50159522:T:G p.(Glu554Ala) NC_000014.9:50159522:T:G p.(Glu554Ala) NC_000014.9:50159522:T:G Identity +NM_001105576.3:c.649C>T NP_001099046.1:p.Arg217Cys NC_000023.11:119759315:C:T p.(Arg217Cys) NC_000023.11:119759315:C:T p.(Arg217Cys) NC_000023.11:119759315:C:T Identity +NM_001308165.2:c.1233T>G NP_001295094.1:p.Ile411Met NC_000005.10:157626453:A:C p.(Ile411Met) NC_000005.10:157626453:A:C p.(Ile411Met) NC_000005.10:157626453:A:C Identity +NM_003578.4:c.1003G>A NP_003569.1:p.Ala335Thr NC_000012.12:53119216:G:A p.(Ala335Thr) NC_000012.12:53119216:G:A p.(Ala335Thr) NC_000012.12:53119216:G:A Identity +NM_018013.4:c.2086G>A NP_060483.3:p.Gly696Ser NC_000006.12:107634929:G:A p.(Gly696Ser) NC_000006.12:107634929:G:A p.(Gly696Ser) NC_000006.12:107634929:G:A Identity +NM_005775.5:c.92G>C NP_005766.3:p.Arg31Pro NC_000008.11:22554597:G:C p.(Arg31Pro) NC_000008.11:22554597:G:C p.(Arg31Pro) NC_000008.11:22554597:G:C Identity +NM_007017.3:c.250C>T NP_008948.1:p.Pro84Ser NC_000005.10:157651828:G:A p.(Pro84Ser) NC_000005.10:157651828:G:A p.(Pro84Ser) NC_000005.10:157651828:G:A Identity +NM_182700.6:c.1009C>G NP_874359.2:p.Pro337Ala NC_000007.14:20784807:G:C p.(Pro337Ala) NC_000007.14:20784807:G:C p.(Pro337Ala) NC_000007.14:20784807:G:C Identity +NM_020777.3:c.70G>A NP_065828.2:p.Ala24Thr NC_000004.12:7192715:G:A p.(Ala24Thr) NC_000004.12:7192715:G:A p.(Ala24Thr) NC_000004.12:7192715:G:A Identity +NM_003105.6:c.2827A>G NP_003096.2:p.Ile943Val NC_000011.10:121558753:A:G p.(Ile943Val) NC_000011.10:121558753:A:G p.(Ile943Val) NC_000011.10:121558753:A:G Identity +NM_001411020.1:c.3739A>C NP_001397949.1:p.Ser1247Arg NC_000014.9:50118504:T:G p.(Ser1247Arg) NC_000014.9:50118504:T:G p.(Ser1247Arg) NC_000014.9:50118504:T:G Identity +NM_007017.3:c.855A>C NP_008948.1:p.Arg285Ser NC_000005.10:157651223:T:G p.(Arg285Ser) NC_000005.10:157651223:T:G p.(Arg285Ser) NC_000005.10:157651223:T:G Identity +NM_024532.5:c.1312G>A NP_078808.3:p.Ala438Thr NC_000002.12:213930056:G:A p.(Ala438Thr) NC_000002.12:213930056:G:A p.(Ala438Thr) NC_000002.12:213930056:G:A Identity +NM_206996.4:c.4558A>G NP_996879.1:p.Ile1520Val NC_000001.11:118008072:T:C p.(Ile1520Val) NC_000001.11:118008072:T:C p.(Ile1520Val) NC_000001.11:118008072:T:C Identity +NM_001130527.3:c.2353A>G NP_001123999.1:p.Ile785Val NC_000017.11:50993778:T:C p.(Ile785Val) NC_000017.11:50993778:T:C p.(Ile785Val) NC_000017.11:50993778:T:C Identity +NM_014587.5:c.997C>G NP_055402.2:p.Pro333Ala NC_000016.10:985041:C:G p.(Pro333Ala) NC_000016.10:985041:C:G p.(Pro333Ala) NC_000016.10:985041:C:G Identity +NM_001326542.2:c.1609A>G NP_001313471.1:p.Thr537Ala NC_000007.14:21430824:A:G p.(Thr537Ala) NC_000007.14:21430824:A:G p.(Thr537Ala) NC_000007.14:21430824:A:G Identity +NM_182700.6:c.1493C>G NP_874359.2:p.Pro498Arg NC_000007.14:20784323:G:C p.(Pro498Arg) NC_000007.14:20784323:G:C p.(Pro498Arg) NC_000007.14:20784323:G:C Identity +NM_001395846.1:c.1289T>C NP_001382775.1:p.Met430Thr NC_000007.14:100463375:A:G p.(Met430Thr) NC_000007.14:100463375:A:G p.(Met430Thr) NC_000007.14:100463375:A:G Identity +NM_001025436.3:c.200T>A NP_001020607.1:p.Phe67Tyr NC_000002.12:213297277:T:A p.(Phe67Tyr) NC_000002.12:213297277:T:A p.(Phe67Tyr) NC_000002.12:213297277:T:A Identity +NM_001198810.2:c.1675G>A NP_001185739.1:p.Ala559Thr NC_000011.10:57485100:C:T p.(Ala559Thr) NC_000011.10:57485100:C:T p.(Ala559Thr) NC_000011.10:57485100:C:T Identity +NM_005664.4:c.1159C>A NP_005655.1:p.Leu387Ile NC_000015.10:23566940:C:A p.(Leu387Ile) NC_000015.10:23566940:C:A p.(Leu387Ile) NC_000015.10:23566940:C:A Identity +NM_001145196.1:c.902C>A NP_001138668.1:p.Pro301His NC_000009.12:42186603:C:A p.(Pro301His) NC_000009.12:42186603:C:A p.(Pro301His) NC_000009.12:42186603:C:A Identity +NM_001001670.3:c.2140C>T NP_001001670.1:p.Arg714Cys NC_000009.12:81992609:C:T p.(Arg714Cys) NC_000009.12:81992609:C:T p.(Arg714Cys) NC_000009.12:81992609:C:T Identity +NM_178828.5:c.1588C>A NP_849150.3:p.Pro530Thr NC_000009.12:87886074:C:A p.(Pro530Thr) NC_000009.12:87886074:C:A p.(Pro530Thr) NC_000009.12:87886074:C:A Identity +NM_178828.5:c.3370G>A NP_849150.3:p.Gly1124Ser NC_000009.12:87887856:G:A p.(Gly1124Ser) NC_000009.12:87887856:G:A p.(Gly1124Ser) NC_000009.12:87887856:G:A Identity +NM_001099646.3:c.1621C>T NP_001093116.1:p.Arg541Cys NC_000017.11:19678765:G:A p.(Arg541Cys) NC_000017.11:19678765:G:A p.(Arg541Cys) NC_000017.11:19678765:G:A Identity +NM_001294341.2:c.139T>A NP_001281270.1:p.Trp47Arg NC_000004.12:686686:A:T p.(Trp47Arg) NC_000004.12:686686:A:T p.(Trp47Arg) NC_000004.12:686686:A:T Identity +NM_001258372.2:c.185C>T NP_001245301.1:p.Pro62Leu NC_000017.11:50548389:C:T p.(Pro62Leu) NC_000017.11:50548389:C:T p.(Pro62Leu) NC_000017.11:50548389:C:T Identity +NM_001258372.2:c.869G>C NP_001245301.1:p.Gly290Ala NC_000017.11:50550038:G:C p.(Gly290Ala) NC_000017.11:50550038:G:C p.(Gly290Ala) NC_000017.11:50550038:G:C Identity +NM_001085452.4:c.3088G>A NP_001078921.3:p.Ala1030Thr NC_000009.12:39360852:G:A p.(Ala1030Thr) NC_000009.12:39360852:G:A p.(Ala1030Thr) NC_000009.12:39360852:G:A Identity +NM_001085452.4:c.929A>G NP_001078921.3:p.Tyr310Cys NC_000009.12:39358693:A:G p.(Tyr310Cys) NC_000009.12:39358693:A:G p.(Tyr310Cys) NC_000009.12:39358693:A:G Identity +NM_001242613.1:c.1625C>T NP_001229542.1:p.Ser542Leu NC_000009.12:60918038:C:T ERR:Data provider error: ValueError: Transcript NM_001242613.1 not found ERR:Data provider error: ValueError: Transcript NM_001242613.1 not found ERR:AlignmentMapper(tx_ac=NM_001242613.1, alt_ac=NM_001242613.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001242613.1, alt_ac=NM_001242613.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001242613.1 not found +NM_015667.2:c.202C>T NP_056482.2:p.Arg68Trp NC_000009.12:61191464:C:T p.(Arg68Trp) NC_000009.12:61191464:C:T p.(Arg68Trp) NC_000009.12:61191464:C:T Identity +NM_152372.4:c.2437G>A NP_689585.3:p.Val813Met NC_000001.11:24080164:C:T p.(Val813Met) NC_000001.11:24080164:C:T p.(Val813Met) NC_000001.11:24080164:C:T Identity +NM_001040454.1:c.1687G>A NP_001035544.1:p.Glu563Lys NC_000003.12:48628483:C:T p.(Glu563Lys) NC_000003.12:48628483:C:T p.(Glu563Lys) NC_000003.12:48628483:C:T Identity +NM_001199633.2:c.181C>G NP_001186562.1:p.Gln61Glu NC_000009.12:84309689:G:C p.(Gln61Glu) NC_000009.12:84309689:G:C p.(Gln61Glu) NC_000009.12:84309689:G:C Identity +NM_001199633.2:c.274G>C NP_001186562.1:p.Gly92Arg NC_000009.12:84305313:C:G p.(Gly92Arg) NC_000009.12:84305313:C:G p.(Gly92Arg) NC_000009.12:84305313:C:G Identity +NM_003970.4:c.2745A>T NP_003961.3:p.Glu915Asp NC_000008.11:2106251:A:T p.(Glu915Asp) NC_000008.11:2106251:A:T p.(Glu915Asp) NC_000008.11:2106251:A:T Identity +NM_178828.5:c.1252C>G NP_849150.3:p.Arg418Gly NC_000009.12:87885738:C:G p.(Arg418Gly) NC_000009.12:87885738:C:G p.(Arg418Gly) NC_000009.12:87885738:C:G Identity +NM_001331078.2:c.1232T>C NP_001318007.1:p.Ile411Thr NC_000003.12:113465707:A:G p.(Ile411Thr) NC_000003.12:113465707:A:G p.(Ile411Thr) NC_000003.12:113465707:A:G Identity +NM_001306141.4:c.730C>G NP_001293070.1:p.Gln244Glu NC_000007.14:75499290:C:G p.(Gln244Glu) NC_000007.14:75499290:C:G p.(Gln244Glu) NC_000007.14:75499290:C:G Identity +NM_005876.5:c.9746G>A NP_005867.3:p.Arg3249Gln NC_000002.12:219492727:G:A p.(Arg3249Gln) NC_000002.12:219492727:G:A p.(Arg3249Gln) NC_000002.12:219492727:G:A Identity +NM_001258426.2:c.1718G>A NP_001245355.1:p.Arg573Gln NC_000005.10:140365882:G:A p.(Arg573Gln) NC_000005.10:140365882:G:A p.(Arg573Gln) NC_000005.10:140365882:G:A Identity +NM_032451.2:c.1442G>A NP_115827.1:p.Arg481Lys NC_000016.10:89859333:G:A p.(Arg481Lys) NC_000016.10:89859333:G:A p.(Arg481Lys) NC_000016.10:89859333:G:A Identity +NM_001320449.2:c.989T>A NP_001307378.1:p.Ile330Asn NC_000017.11:4486502:T:A p.(Ile330Asn) NC_000017.11:4486502:T:A p.(Ile330Asn) NC_000017.11:4486502:T:A Identity +NM_021245.4:c.742G>C NP_067068.1:p.Gly248Arg NC_000010.11:73632087:C:G p.(Gly248Arg) NC_000010.11:73632087:C:G p.(Gly248Arg) NC_000010.11:73632087:C:G Identity +NM_001001664.3:c.1036C>A NP_001001664.1:p.Gln346Lys NC_000002.12:138568936:C:A p.(Gln346Lys) NC_000002.12:138568936:C:A p.(Gln346Lys) NC_000002.12:138568936:C:A Identity +NM_139015.5:c.682C>G NP_620584.2:p.Leu228Val NC_000012.12:120768415:G:C p.(Leu228Val) NC_000012.12:120768415:G:C p.(Leu228Val) NC_000012.12:120768415:G:C Identity +NM_015001.3:c.9277C>G NP_055816.2:p.Leu3093Val NC_000001.11:15935516:C:G p.(Leu3093Val) NC_000001.11:15935516:C:G p.(Leu3093Val) NC_000001.11:15935516:C:G Identity +NM_145658.4:c.419T>C NP_663633.1:p.Ile140Thr NC_000015.10:68945952:T:C p.(Ile140Thr) NC_000015.10:68945952:T:C p.(Ile140Thr) NC_000015.10:68945952:T:C Identity +NM_001142644.2:c.50G>A NP_001136116.1:p.Arg17Gln NC_000002.12:228132067:C:T p.(Arg17Gln) NC_000002.12:228132067:C:T p.(Arg17Gln) NC_000002.12:228132067:C:T Identity +NM_001331078.2:c.926C>T NP_001318007.1:p.Pro309Leu NC_000003.12:113468367:G:A p.(Pro309Leu) NC_000003.12:113468367:G:A p.(Pro309Leu) NC_000003.12:113468367:G:A Identity +NM_001042522.3:c.1082C>G NP_001035987.1:p.Pro361Arg NC_000019.10:38395993:C:G p.(Pro361Arg) NC_000019.10:38395993:C:G p.(Pro361Arg) NC_000019.10:38395993:C:G Identity +NM_001024858.4:c.959A>T NP_001020029.1:p.Gln320Leu NC_000014.9:64799851:T:A p.(Gln320Leu) NC_000014.9:64799851:T:A p.(Gln320Leu) NC_000014.9:64799851:T:A Identity +NM_032451.2:c.1990G>A NP_115827.1:p.Val664Ile NC_000016.10:89870116:G:A p.(Val664Ile) NC_000016.10:89870116:G:A p.(Val664Ile) NC_000016.10:89870116:G:A Identity +NM_001281987.3:c.995C>T NP_001268916.1:p.Ala332Val NC_000001.11:31814338:G:A p.(Ala332Val) NC_000001.11:31814338:G:A p.(Ala332Val) NC_000001.11:31814338:G:A Identity +NM_001128325.3:c.967G>A NP_001121797.2:p.Ala323Thr NC_000004.12:1167500:C:T p.(Ala323Thr) NC_000004.12:1167500:C:T p.(Ala323Thr) NC_000004.12:1167500:C:T Identity +NM_145913.5:c.403T>G NP_666018.3:p.Phe135Val NC_000012.12:101204513:A:C p.(Phe135Val) NC_000012.12:101204513:A:C p.(Phe135Val) NC_000012.12:101204513:A:C Identity +NM_001011547.3:c.961G>T NP_001011547.2:p.Gly321Trp NC_000001.11:48232429:G:T p.(Gly321Trp) NC_000001.11:48232429:G:T p.(Gly321Trp) NC_000001.11:48232429:G:T Identity +NM_001282710.2:c.26G>A NP_001269639.1:p.Cys9Tyr NC_000002.12:11155571:G:A p.(Cys9Tyr) NC_000002.12:11155571:G:A p.(Cys9Tyr) NC_000002.12:11155571:G:A Identity +NM_014037.3:c.992C>T NP_054756.2:p.Ser331Leu NC_000019.10:49309112:G:A p.(Ser331Leu) NC_000019.10:49309112:G:A p.(Ser331Leu) NC_000019.10:49309112:G:A Identity +NM_182632.3:c.1184A>G NP_872438.2:p.His395Arg NC_000005.10:1243606:A:G p.(His395Arg) NC_000005.10:1243606:A:G p.(His395Arg) NC_000005.10:1243606:A:G Identity +NM_001318369.2:c.1406T>C NP_001305298.1:p.Met469Thr NC_000011.10:20652325:T:C p.(Met469Thr) NC_000011.10:20652325:T:C p.(Met469Thr) NC_000011.10:20652325:T:C Identity +NM_001284423.2:c.1592G>A NP_001271352.1:p.Arg531Gln NC_000003.12:40190389:G:A p.(Arg531Gln) NC_000003.12:40190389:G:A p.(Arg531Gln) NC_000003.12:40190389:G:A Identity +NM_001281457.2:c.47T>C NP_001268386.1:p.Ile16Thr NC_000020.11:46355820:A:G p.(Ile16Thr) NC_000020.11:46355820:A:G p.(Ile16Thr) NC_000020.11:46355820:A:G Identity +NM_006662.3:c.9484C>G NP_006653.2:p.Pro3162Ala NC_000016.10:30739523:C:G p.(Pro3162Ala) NC_000016.10:30739523:C:G p.(Pro3162Ala) NC_000016.10:30739523:C:G Identity +NM_025248.3:c.3347C>T NP_079524.2:p.Ala1116Val NC_000017.11:38543892:G:A p.(Ala1116Val) NC_000017.11:38543892:G:A p.(Ala1116Val) NC_000017.11:38543892:G:A Identity +NM_001346201.2:c.2422A>G NP_001333130.1:p.Lys808Glu NC_000012.12:64127674:A:G p.(Lys808Glu) NC_000012.12:64127674:A:G p.(Lys808Glu) NC_000012.12:64127674:A:G Identity +NM_001349945.2:c.1103C>T NP_001336874.1:p.Thr368Ile NC_000020.11:13117675:C:T p.(Thr368Ile) NC_000020.11:13117675:C:T p.(Thr368Ile) NC_000020.11:13117675:C:T Identity +NM_006662.3:c.3344G>T NP_006653.2:p.Arg1115Leu NC_000016.10:30721278:G:T p.(Arg1115Leu) NC_000016.10:30721278:G:T p.(Arg1115Leu) NC_000016.10:30721278:G:T Identity +NM_019849.3:c.659G>A NP_062823.1:p.Ser220Asn NC_000019.10:33212420:C:T p.(Ser220Asn) NC_000019.10:33212420:C:T p.(Ser220Asn) NC_000019.10:33212420:C:T Identity +NM_001008539.4:c.707C>T NP_001008539.3:p.Pro236Leu NC_000008.11:17550308:C:T p.(Pro236Leu) NC_000008.11:17550308:C:T p.(Pro236Leu) NC_000008.11:17550308:C:T Identity +NM_001267036.1:c.653C>T NP_001253965.1:p.Ala218Val NC_000014.9:23137968:G:A p.(Ala218Val) NC_000014.9:23137968:G:A p.(Ala218Val) NC_000014.9:23137968:G:A Identity +NM_018728.4:c.4958A>G NP_061198.2:p.Glu1653Gly NC_000015.10:52196345:T:C p.(Glu1653Gly) NC_000015.10:52196345:T:C p.(Glu1653Gly) NC_000015.10:52196345:T:C Identity +NM_016333.4:c.97C>T NP_057417.3:p.Arg33Trp NC_000016.10:2756460:C:T p.(Arg33Trp) NC_000016.10:2756460:C:T p.(Arg33Trp) NC_000016.10:2756460:C:T Identity +NM_001172702.2:c.752A>G NP_001166173.1:p.Tyr251Cys NC_000014.9:61045352:A:G p.(Tyr251Cys) NC_000014.9:61045352:A:G p.(Tyr251Cys) NC_000014.9:61045352:A:G Identity +NM_001145195.2:c.719C>T NP_001138667.1:p.Ser240Phe NC_000010.11:17965657:C:T p.(Ser240Phe) NC_000010.11:17965657:C:T p.(Ser240Phe) NC_000010.11:17965657:C:T Identity +NM_001083615.4:c.3160A>C NP_001077084.2:p.Asn1054His NC_000002.12:170499678:A:C p.(Asn1054His) NC_000002.12:170499678:A:C p.(Asn1054His) NC_000002.12:170499678:A:C Identity +NM_173854.6:c.1340C>T NP_776253.3:p.Thr447Ile NC_000001.11:205794885:G:A p.(Thr447Ile) NC_000001.11:205794885:G:A p.(Thr447Ile) NC_000001.11:205794885:G:A Identity +NM_001051.5:c.221C>A NP_001042.1:p.Ala74Asp NC_000022.11:37207582:G:T p.(Ala74Asp) NC_000022.11:37207582:G:T p.(Ala74Asp) NC_000022.11:37207582:G:T Identity +NM_016333.4:c.1646A>G NP_057417.3:p.Gln549Arg NC_000016.10:2762173:A:G p.(Gln549Arg) NC_000016.10:2762173:A:G p.(Gln549Arg) NC_000016.10:2762173:A:G Identity +NM_016333.4:c.1769C>T NP_057417.3:p.Ala590Val NC_000016.10:2762296:C:T p.(Ala590Val) NC_000016.10:2762296:C:T p.(Ala590Val) NC_000016.10:2762296:C:T Identity +NM_006275.6:c.809A>C NP_006266.2:p.Glu270Ala NC_000020.11:43460836:A:C p.(Glu270Ala) NC_000020.11:43460836:A:C p.(Glu270Ala) NC_000020.11:43460836:A:C Identity +NM_001100874.3:c.643T>C NP_001094344.2:p.Phe215Leu NC_000004.12:102945202:A:G p.(Phe215Leu) NC_000004.12:102945202:A:G p.(Phe215Leu) NC_000004.12:102945202:A:G Identity +NM_001136123.2:c.680C>T NP_001129595.1:p.Pro227Leu NC_000010.11:100917064:C:T p.(Pro227Leu) NC_000010.11:100917064:C:T p.(Pro227Leu) NC_000010.11:100917064:C:T Identity +NM_001104587.2:c.752A>T NP_001098057.1:p.Asp251Val NC_000017.11:35363055:T:A p.(Asp251Val) NC_000017.11:35363055:T:A p.(Asp251Val) NC_000017.11:35363055:T:A Identity +NM_018414.5:c.71T>C NP_060884.1:p.Leu24Pro NC_000017.11:76643567:A:G p.(Leu24Pro) NC_000017.11:76643567:A:G p.(Leu24Pro) NC_000017.11:76643567:A:G Identity +NM_001144950.2:c.3773A>T NP_001138422.1:p.Asp1258Val NC_000019.10:55518048:A:T p.(Asp1258Val) NC_000019.10:55518048:A:T p.(Asp1258Val) NC_000019.10:55518048:A:T Identity +NM_001166293.2:c.19G>A NP_001159765.1:p.Val7Ile NC_000001.11:84671200:C:T p.(Val7Ile) NC_000001.11:84671200:C:T p.(Val7Ile) NC_000001.11:84671200:C:T Identity +NM_001284498.2:c.683A>G NP_001271427.1:p.Asn228Ser NC_000017.11:1591610:T:C p.(Asn228Ser) NC_000017.11:1591610:T:C p.(Asn228Ser) NC_000017.11:1591610:T:C Identity +NM_001294341.2:c.584T>C NP_001281270.1:p.Met195Thr NC_000004.12:685835:A:G p.(Met195Thr) NC_000004.12:685835:A:G p.(Met195Thr) NC_000004.12:685835:A:G Identity +NM_021978.4:c.50G>T NP_068813.1:p.Gly17Val NC_000011.10:130160028:G:T p.(Gly17Val) NC_000011.10:130160028:G:T p.(Gly17Val) NC_000011.10:130160028:G:T Identity +NM_175039.4:c.620C>T NP_778204.1:p.Ser207Leu NC_000009.12:127910049:G:A p.(Ser207Leu) NC_000009.12:127910049:G:A p.(Ser207Leu) NC_000009.12:127910049:G:A Identity +NM_144682.6:c.2553G>C NP_653283.3:p.Leu851Phe NC_000017.11:35440735:C:G p.(Leu851Phe) NC_000017.11:35440735:C:G p.(Leu851Phe) NC_000017.11:35440735:C:G Identity +NM_001168247.3:c.43C>T NP_001161719.1:p.Pro15Ser NC_000001.11:41020617:G:A p.(Pro15Ser) NC_000001.11:41020617:G:A p.(Pro15Ser) NC_000001.11:41020617:G:A Identity +NM_003061.3:c.2200T>C NP_003052.2:p.Cys734Arg NC_000010.11:97040084:A:G p.(Cys734Arg) NC_000010.11:97040084:A:G p.(Cys734Arg) NC_000010.11:97040084:A:G Identity +NM_020759.3:c.10888G>T NP_065810.2:p.Val3630Leu NC_000015.10:42692465:G:T p.(Val3630Leu) NC_000015.10:42692465:G:T p.(Val3630Leu) NC_000015.10:42692465:G:T Identity +NM_020759.3:c.3955G>A NP_065810.2:p.Asp1319Asn NC_000015.10:42685532:G:A p.(Asp1319Asn) NC_000015.10:42685532:G:A p.(Asp1319Asn) NC_000015.10:42685532:G:A Identity +NM_020759.3:c.6151A>G NP_065810.2:p.Ile2051Val NC_000015.10:42687728:A:G p.(Ile2051Val) NC_000015.10:42687728:A:G p.(Ile2051Val) NC_000015.10:42687728:A:G Identity +NM_001164380.2:c.1457C>G NP_001157852.1:p.Ser486Cys NC_000008.11:73552084:G:C p.(Ser486Cys) NC_000008.11:73552084:G:C p.(Ser486Cys) NC_000008.11:73552084:G:C Identity +NM_001013841.2:c.710C>T NP_001013863.1:p.Thr237Ile NC_000019.10:4327176:G:A p.(Thr237Ile) NC_000019.10:4327176:G:A p.(Thr237Ile) NC_000019.10:4327176:G:A Identity +NM_001165937.2:c.902T>C NP_001159409.1:p.Ile301Thr NC_000017.11:39660473:T:C p.(Ile301Thr) NC_000017.11:39660473:T:C p.(Ile301Thr) NC_000017.11:39660473:T:C Identity +NM_152672.6:c.134C>A NP_689885.4:p.Ala45Asp NC_000003.12:196226964:C:A p.(Ala45Asp) NC_000003.12:196226964:C:A p.(Ala45Asp) NC_000003.12:196226964:C:A Identity +NM_001104577.2:c.759G>C NP_001098047.1:p.Leu253Phe NC_000017.11:5033729:C:G p.(Leu253Phe) NC_000017.11:5033729:C:G p.(Leu253Phe) NC_000017.11:5033729:C:G Identity +NM_001288718.2:c.2314A>G NP_001275647.1:p.Met772Val NC_000017.11:42310597:A:G p.(Met772Val) NC_000017.11:42310597:A:G p.(Met772Val) NC_000017.11:42310597:A:G Identity +NM_013240.6:c.53C>G NP_037372.4:p.Ala18Gly NC_000021.9:28885292:G:C p.(Ala18Gly) NC_000021.9:28885292:G:C p.(Ala18Gly) NC_000021.9:28885292:G:C Identity +NM_001048166.1:c.3268A>G NP_001041631.1:p.Asn1090Asp NC_000001.11:47251734:T:C p.(Asn1090Asp) NC_000001.11:47251734:T:C p.(Asn1090Asp) NC_000001.11:47251734:T:C Identity +NM_052902.4:c.442C>T NP_443134.3:p.Leu148Phe NC_000002.12:219602470:C:T p.(Leu148Phe) NC_000002.12:219602470:C:T p.(Leu148Phe) NC_000002.12:219602470:C:T Identity +NM_001410842.1:c.973G>C NP_001397771.1:p.Val325Leu NC_000004.12:139351569:G:C p.(Val325Leu) NC_000004.12:139351569:G:C p.(Val325Leu) NC_000004.12:139351569:G:C Identity +NM_001128429.3:c.893T>C NP_001121901.1:p.Met298Thr NC_000004.12:94252618:T:C p.(Met298Thr) NC_000004.12:94252618:T:C p.(Met298Thr) NC_000004.12:94252618:T:C Identity +NM_001291501.2:c.3220T>C NP_001278430.1:p.Ser1074Pro NC_000022.11:45354030:A:G p.(Ser1074Pro) NC_000022.11:45354030:A:G p.(Ser1074Pro) NC_000022.11:45354030:A:G Identity +NM_004226.4:c.992A>G NP_004217.1:p.Asn331Ser NC_000002.12:196137573:T:C p.(Asn331Ser) NC_000002.12:196137573:T:C p.(Asn331Ser) NC_000002.12:196137573:T:C Identity +NM_001136028.1:c.472G>A NP_001129500.1:p.Val158Ile NC_000006.12:31978935:G:A ERR:Data provider error: ValueError: Transcript NM_001136028.1 not found ERR:Data provider error: ValueError: Transcript NM_001136028.1 not found ERR:AlignmentMapper(tx_ac=NM_001136028.1, alt_ac=NM_001136028.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001136028.1, alt_ac=NM_001136028.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001136028.1 not found +NM_001110798.2:c.946G>A NP_001104268.1:p.Val316Ile NC_000013.11:41336687:G:A p.(Val316Ile) NC_000013.11:41336687:G:A p.(Val316Ile) NC_000013.11:41336687:G:A Identity +NM_001282546.2:c.1235C>A NP_001269475.1:p.Ala412Glu NC_000001.11:36341842:G:T p.(Ala412Glu) NC_000001.11:36341842:G:T p.(Ala412Glu) NC_000001.11:36341842:G:T Identity +NM_021095.4:c.1541C>T NP_066918.2:p.Ser514Phe NC_000002.12:27201668:G:A p.(Ser514Phe) NC_000002.12:27201668:G:A p.(Ser514Phe) NC_000002.12:27201668:G:A Identity +NM_021095.4:c.653T>C NP_066918.2:p.Ile218Thr NC_000002.12:27205430:A:G p.(Ile218Thr) NC_000002.12:27205430:A:G p.(Ile218Thr) NC_000002.12:27205430:A:G Identity +NM_001146345.2:c.362A>G NP_001139817.1:p.Gln121Arg NC_000018.10:79919375:T:C p.(Gln121Arg) NC_000018.10:79919375:T:C p.(Gln121Arg) NC_000018.10:79919375:T:C Identity +NM_016615.5:c.392T>C NP_057699.2:p.Ile131Thr NC_000012.12:242699:A:G p.(Ile131Thr) NC_000012.12:242699:A:G p.(Ile131Thr) NC_000012.12:242699:A:G Identity +NM_001010898.4:c.548T>C NP_001010898.1:p.Val183Ala NC_000001.11:110174075:T:C p.(Val183Ala) NC_000001.11:110174075:T:C p.(Val183Ala) NC_000001.11:110174075:T:C Identity +NM_182632.3:c.338T>A NP_872438.2:p.Leu113Gln NC_000005.10:1232786:T:A p.(Leu113Gln) NC_000005.10:1232786:T:A p.(Leu113Gln) NC_000005.10:1232786:T:A Identity +NM_006901.4:c.2416A>G NP_008832.2:p.Ile806Val NC_000015.10:71935446:T:C p.(Ile806Val) NC_000015.10:71935446:T:C p.(Ile806Val) NC_000015.10:71935446:T:C Identity +NM_020197.3:c.1265A>C NP_064582.2:p.Tyr422Ser NC_000001.11:214336746:A:C p.(Tyr422Ser) NC_000001.11:214336746:A:C p.(Tyr422Ser) NC_000001.11:214336746:A:C Identity +NM_001039697.2:c.1211A>G NP_001034786.1:p.Tyr404Cys NC_000009.12:15459840:A:G p.(Tyr404Cys) NC_000009.12:15459840:A:G p.(Tyr404Cys) NC_000009.12:15459840:A:G Identity +NM_001242935.3:c.302A>G NP_001229864.1:p.His101Arg NC_000005.10:122440731:A:G p.(His101Arg) NC_000005.10:122440731:A:G p.(His101Arg) NC_000005.10:122440731:A:G Identity +NM_001042581.2:c.229G>A NP_001036046.1:p.Glu77Lys NC_000015.10:75617481:C:T p.(Glu77Lys) NC_000015.10:75617481:C:T p.(Glu77Lys) NC_000015.10:75617481:C:T Identity +NM_001350862.2:c.2171G>A NP_001337791.1:p.Ser724Asn NC_000007.14:17803506:C:T p.(Ser724Asn) NC_000007.14:17803506:C:T p.(Ser724Asn) NC_000007.14:17803506:C:T Identity +NM_001347918.2:c.311G>A NP_001334847.2:p.Arg104His NC_000011.10:130915628:C:T p.(Arg104His) NC_000011.10:130915628:C:T p.(Arg104His) NC_000011.10:130915628:C:T Identity +NM_001042632.3:c.29T>C NP_001036097.1:p.Met10Thr NC_000020.11:45834207:T:C p.(Met10Thr) NC_000020.11:45834207:T:C p.(Met10Thr) NC_000020.11:45834207:T:C Identity +NM_001012994.2:c.760C>T NP_001013012.1:p.Leu254Phe NC_000009.12:112836354:C:T p.(Leu254Phe) NC_000009.12:112836354:C:T p.(Leu254Phe) NC_000009.12:112836354:C:T Identity +NM_001385683.1:c.263G>T NP_001372612.1:p.Gly88Val NC_000003.12:45780099:C:A p.(Gly88Val) NC_000003.12:45780099:C:A p.(Gly88Val) NC_000003.12:45780099:C:A Identity +NM_001142805.2:c.1317_1318del NP_001136277.1:p.Cys440fs NC_000023.11:153694219:CTCT:CT p.(Cys440LeufsTer14) NC_000023.11:153694219:CTCT:CT p.(Cys440LeufsTer14) NC_000023.11:153694221:CT: Analogous +NM_015063.3:c.1928G>A NP_055878.1:p.Arg643Gln NC_000019.10:47437930:C:T p.(Arg643Gln) NC_000019.10:47437930:C:T p.(Arg643Gln) NC_000019.10:47437930:C:T Identity +NM_018728.4:c.764G>A NP_061198.2:p.Arg255Gln NC_000015.10:52271830:C:T p.(Arg255Gln) NC_000015.10:52271830:C:T p.(Arg255Gln) NC_000015.10:52271830:C:T Identity +NM_014978.3:c.2912C>A NP_055793.1:p.Ala971Glu NC_000010.11:105245584:C:A p.(Ala971Glu) NC_000010.11:105245584:C:A p.(Ala971Glu) NC_000010.11:105245584:C:A Identity +NM_003105.6:c.1868T>C NP_003096.2:p.Val623Ala NC_000011.10:121545245:T:C p.(Val623Ala) NC_000011.10:121545245:T:C p.(Val623Ala) NC_000011.10:121545245:T:C Identity +NM_031439.4:c.731C>T NP_113627.1:p.Pro244Leu NC_000008.11:10726173:G:A p.(Pro244Leu) NC_000008.11:10726173:G:A p.(Pro244Leu) NC_000008.11:10726173:G:A Identity +NM_000346.4:c.1441G>A NP_000337.1:p.Ala481Thr NC_000017.11:72124297:G:A p.(Ala481Thr) NC_000017.11:72124297:G:A p.(Ala481Thr) NC_000017.11:72124297:G:A Identity +NM_013451.4:c.5719C>T NP_038479.1:p.Arg1907Cys NC_000010.11:93313189:G:A p.(Arg1907Cys) NC_000010.11:93313189:G:A p.(Arg1907Cys) NC_000010.11:93313189:G:A Identity +NM_206996.4:c.3764A>C NP_996879.1:p.Asp1255Ala NC_000001.11:118025382:T:G p.(Asp1255Ala) NC_000001.11:118025382:T:G p.(Asp1255Ala) NC_000001.11:118025382:T:G Identity +NM_001128310.3:c.298C>A NP_001121782.1:p.Gln100Lys NC_000004.12:87494501:G:T p.(Gln100Lys) NC_000004.12:87494501:G:T p.(Gln100Lys) NC_000004.12:87494501:G:T Identity +NM_001353349.1:c.686G>T NP_001340278.1:p.Gly229Val NC_000001.11:16405022:C:A p.(Gly229Val) NC_000001.11:16405022:C:A p.(Gly229Val) NC_000001.11:16405022:C:A Identity +NM_001145196.1:c.1775G>A NP_001138668.1:p.Arg592Gln NC_000009.12:42187476:G:A p.(Arg592Gln) NC_000009.12:42187476:G:A p.(Arg592Gln) NC_000009.12:42187476:G:A Identity +NM_001001670.3:c.2707T>A NP_001001670.1:p.Leu903Met NC_000009.12:81993176:T:A p.(Leu903Met) NC_000009.12:81993176:T:A p.(Leu903Met) NC_000009.12:81993176:T:A Identity +NM_001039395.4:c.322A>G NP_001034484.3:p.Ile108Val NC_000009.12:4625499:T:C p.(Ile108Val) NC_000009.12:4625499:T:C p.(Ile108Val) NC_000009.12:4625499:T:C Identity +NM_003970.4:c.4348C>G NP_003961.3:p.Gln1450Glu NC_000008.11:2144930:C:G p.(Gln1450Glu) NC_000008.11:2144930:C:G p.(Gln1450Glu) NC_000008.11:2144930:C:G Identity +NM_001008779.1:c.196A>T NP_001008779.1:p.Ile66Leu NC_000002.12:28816209:A:T p.(Ile66Leu) NC_000002.12:28816209:A:T p.(Ile66Leu) NC_000002.12:28816209:A:T Identity +NM_001033553.3:c.2894G>A NP_001028725.1:p.Arg965His NC_000017.11:20260247:G:A p.(Arg965His) NC_000017.11:20260247:G:A p.(Arg965His) NC_000017.11:20260247:G:A Identity +NM_015001.3:c.7010G>A NP_055816.2:p.Arg2337Gln NC_000001.11:15933249:G:A p.(Arg2337Gln) NC_000001.11:15933249:G:A p.(Arg2337Gln) NC_000001.11:15933249:G:A Identity +NM_015001.3:c.9748G>A NP_055816.2:p.Val3250Ile NC_000001.11:15935987:G:A p.(Val3250Ile) NC_000001.11:15935987:G:A p.(Val3250Ile) NC_000001.11:15935987:G:A Identity +NM_001127889.5:c.630A>C NP_001121361.1:p.Glu210Asp NC_000015.10:64969293:T:G p.(Glu210Asp) NC_000015.10:64969293:T:G p.(Glu210Asp) NC_000015.10:64969293:T:G Identity +NM_001204158.3:c.134G>A NP_001191087.1:p.Arg45Gln NC_000019.10:48626161:G:A p.(Arg45Gln) NC_000019.10:48626161:G:A p.(Arg45Gln) NC_000019.10:48626161:G:A Identity +NM_173653.4:c.1634G>A NP_775924.1:p.Gly545Asp NC_000003.12:143268950:C:T p.(Gly545Asp) NC_000003.12:143268950:C:T p.(Gly545Asp) NC_000003.12:143268950:C:T Identity +NM_001386878.1:c.1828G>A NP_001373807.1:p.Gly610Arg NC_000012.12:21269732:C:T p.(Gly610Arg) NC_000012.12:21269732:C:T p.(Gly610Arg) NC_000012.12:21269732:C:T Identity +NM_015110.4:c.737A>G NP_055925.2:p.Tyr246Cys NC_000009.12:70280816:A:G p.(Tyr246Cys) NC_000009.12:70280816:A:G p.(Tyr246Cys) NC_000009.12:70280816:A:G Identity +NM_001167740.2:c.463A>G NP_001161212.1:p.Met155Val NC_000001.11:246327268:T:C p.(Met155Val) NC_000001.11:246327268:T:C p.(Met155Val) NC_000001.11:246327268:T:C Identity +NM_052928.3:c.244A>G NP_443160.2:p.Lys82Glu NC_000017.11:1812005:T:C p.(Lys82Glu) NC_000017.11:1812005:T:C p.(Lys82Glu) NC_000017.11:1812005:T:C Identity +NM_001242792.2:c.2017T>C NP_001229721.1:p.Phe673Leu NC_000006.12:83582353:A:G p.(Phe673Leu) NC_000006.12:83582353:A:G p.(Phe673Leu) NC_000006.12:83582353:A:G Identity +NM_001080437.3:c.2192G>T NP_001073906.1:p.Ser731Ile NC_000002.12:241053260:G:T p.(Ser731Ile) NC_000002.12:241053260:G:T p.(Ser731Ile) NC_000002.12:241053260:G:T Identity +NM_001080437.3:c.3580A>G NP_001073906.1:p.Ile1194Val NC_000002.12:241070191:A:G p.(Ile1194Val) NC_000002.12:241070191:A:G p.(Ile1194Val) NC_000002.12:241070191:A:G Identity +NM_001287813.3:c.1538C>T NP_001274742.1:p.Ala513Val NC_000008.11:50792812:C:T p.(Ala513Val) NC_000008.11:50792812:C:T p.(Ala513Val) NC_000008.11:50792812:C:T Identity +NM_022133.4:c.185A>C NP_071416.2:p.Asp62Ala NC_000008.11:81839801:T:G p.(Asp62Ala) NC_000008.11:81839801:T:G p.(Asp62Ala) NC_000008.11:81839801:T:G Identity +NM_001318146.1:c.1063G>A NP_001305075.1:p.Gly355Ser NC_000015.10:75650164:G:A p.(Gly355Ser) NC_000015.10:75650164:G:A p.(Gly355Ser) NC_000015.10:75650164:G:A Identity +NM_014011.5:c.502T>G NP_054730.1:p.Ser168Ala NC_000002.12:46759031:T:G p.(Ser168Ala) NC_000002.12:46759031:T:G p.(Ser168Ala) NC_000002.12:46759031:T:G Identity +NM_001018003.3:c.244G>A NP_001018003.1:p.Gly82Ser NC_000008.11:22567139:G:A p.(Gly82Ser) NC_000008.11:22567139:G:A p.(Gly82Ser) NC_000008.11:22567139:G:A Identity +NM_005775.5:c.88T>C NP_005766.3:p.Ser30Pro NC_000008.11:22554593:T:C p.(Ser30Pro) NC_000008.11:22554593:T:C p.(Ser30Pro) NC_000008.11:22554593:T:C Identity +NM_003105.6:c.5251C>A NP_003096.2:p.Pro1751Thr NC_000011.10:121611086:C:A p.(Pro1751Thr) NC_000011.10:121611086:C:A p.(Pro1751Thr) NC_000011.10:121611086:C:A Identity +NM_001185015.2:c.739A>G NP_001171944.1:p.Met247Val NC_000002.12:230211499:T:C p.(Met247Val) NC_000002.12:230211499:T:C p.(Met247Val) NC_000002.12:230211499:T:C Identity +NM_001382248.1:c.83C>T NP_001369177.1:p.Pro28Leu NC_000001.11:153040263:G:A p.(Pro28Leu) NC_000001.11:153040263:G:A p.(Pro28Leu) NC_000001.11:153040263:G:A Identity +NM_080862.3:c.37G>A NP_543138.1:p.Glu13Lys NC_000003.12:141066140:G:A p.(Glu13Lys) NC_000003.12:141066140:G:A p.(Glu13Lys) NC_000003.12:141066140:G:A Identity +NM_016642.4:c.10829C>T NP_057726.4:p.Ser3610Phe NC_000015.10:41851064:G:A p.(Ser3610Phe) NC_000015.10:41851064:G:A p.(Ser3610Phe) NC_000015.10:41851064:G:A Identity +NM_001349945.2:c.1501C>T NP_001336874.1:p.Arg501Trp NC_000020.11:13160087:C:T p.(Arg501Trp) NC_000020.11:13160087:C:T p.(Arg501Trp) NC_000020.11:13160087:C:T Identity +NM_001077199.3:c.1231C>T NP_001070667.1:p.Arg411Trp NC_000005.10:66170693:C:T p.(Arg411Trp) NC_000005.10:66170693:C:T p.(Arg411Trp) NC_000005.10:66170693:C:T Identity +NM_016333.4:c.1285A>G NP_057417.3:p.Lys429Glu NC_000016.10:2761812:A:G p.(Lys429Glu) NC_000016.10:2761812:A:G p.(Lys429Glu) NC_000016.10:2761812:A:G Identity +NM_016333.4:c.5114G>A NP_057417.3:p.Arg1705His NC_000016.10:2765641:G:A p.(Arg1705His) NC_000016.10:2765641:G:A p.(Arg1705His) NC_000016.10:2765641:G:A Identity +NM_001144950.2:c.2645C>A NP_001138422.1:p.Pro882His NC_000019.10:55501060:C:A p.(Pro882His) NC_000019.10:55501060:C:A p.(Pro882His) NC_000019.10:55501060:C:A Identity +NM_001256748.3:c.1114T>C NP_001243677.1:p.Cys372Arg NC_000003.12:8619881:A:G p.(Cys372Arg) NC_000003.12:8619881:A:G p.(Cys372Arg) NC_000003.12:8619881:A:G Identity +NM_021978.4:c.71C>T NP_068813.1:p.Ser24Phe NC_000011.10:130160049:C:T p.(Ser24Phe) NC_000011.10:130160049:C:T p.(Ser24Phe) NC_000011.10:130160049:C:T Identity +NM_006645.3:c.542G>A NP_006636.2:p.Cys181Tyr NC_000011.10:72757801:C:T p.(Cys181Tyr) NC_000011.10:72757801:C:T p.(Cys181Tyr) NC_000011.10:72757801:C:T Identity +NM_006645.3:c.641A>T NP_006636.2:p.Lys214Met NC_000011.10:72755131:T:A p.(Lys214Met) NC_000011.10:72755131:T:A p.(Lys214Met) NC_000011.10:72755131:T:A Identity +NM_001178078.2:c.1820G>A NP_001171549.1:p.Arg607Gln NC_000012.12:57099364:C:T p.(Arg607Gln) NC_000012.12:57099364:C:T p.(Arg607Gln) NC_000012.12:57099364:C:T Identity +NM_001169118.2:c.1943C>T NP_001162589.1:p.Ser648Leu NC_000004.12:27022673:C:T p.(Ser648Leu) NC_000004.12:27022673:C:T p.(Ser648Leu) NC_000004.12:27022673:C:T Identity +NM_001110798.2:c.176T>C NP_001104268.1:p.Leu59Ser NC_000013.11:41318841:T:C p.(Leu59Ser) NC_000013.11:41318841:T:C p.(Leu59Ser) NC_000013.11:41318841:T:C Identity +NM_001306082.2:c.596A>G NP_001293011.1:p.His199Arg NC_000004.12:5456876:A:G p.(His199Arg) NC_000004.12:5456876:A:G p.(His199Arg) NC_000004.12:5456876:A:G Identity +NM_001243313.2:c.1057C>T NP_001230242.1:p.Leu353Phe NC_000002.12:218680000:C:T p.(Leu353Phe) NC_000002.12:218680000:C:T p.(Leu353Phe) NC_000002.12:218680000:C:T Identity +NM_001243313.2:c.3620T>G NP_001230242.1:p.Leu1207Arg NC_000002.12:218699226:T:G p.(Leu1207Arg) NC_000002.12:218699226:T:G p.(Leu1207Arg) NC_000002.12:218699226:T:G Identity +NM_001317931.1:c.543C>G NP_001304860.1:p.Asp181Glu NC_000020.11:35618978:C:G p.(Asp181Glu) NC_000020.11:35618978:C:G p.(Asp181Glu) NC_000020.11:35618978:C:G Identity +NM_006461.4:c.169G>A NP_006452.3:p.Gly57Arg NC_000017.11:28598517:C:T p.(Gly57Arg) NC_000017.11:28598517:C:T p.(Gly57Arg) NC_000017.11:28598517:C:T Identity +NM_001142294.2:c.1153C>T NP_001135766.1:p.Arg385Cys NC_000013.11:36329372:G:A p.(Arg385Cys) NC_000013.11:36329372:G:A p.(Arg385Cys) NC_000013.11:36329372:G:A Identity +NM_001142294.2:c.176T>C NP_001135766.1:p.Ile59Thr NC_000013.11:36335654:A:G p.(Ile59Thr) NC_000013.11:36335654:A:G p.(Ile59Thr) NC_000013.11:36335654:A:G Identity +NM_002423.5:c.56C>T NP_002414.1:p.Pro19Leu NC_000011.10:102530644:G:A p.(Pro19Leu) NC_000011.10:102530644:G:A p.(Pro19Leu) NC_000011.10:102530644:G:A Identity +NM_001145196.1:c.2429G>T NP_001138668.1:p.Gly810Val NC_000009.12:42188130:G:T p.(Gly810Val) NC_000009.12:42188130:G:T p.(Gly810Val) NC_000009.12:42188130:G:T Identity +NM_001141917.2:c.3958C>T NP_001135389.1:p.Arg1320Cys NC_000009.12:34723281:G:A p.(Arg1320Cys) NC_000009.12:34723281:G:A p.(Arg1320Cys) NC_000009.12:34723281:G:A Identity +NM_152372.4:c.121C>T NP_689585.3:p.Arg41Cys NC_000001.11:24108515:G:A p.(Arg41Cys) NC_000001.11:24108515:G:A p.(Arg41Cys) NC_000001.11:24108515:G:A Identity +NM_001033553.3:c.2960T>G NP_001028725.1:p.Phe987Cys NC_000017.11:20296979:T:G p.(Phe987Cys) NC_000017.11:20296979:T:G p.(Phe987Cys) NC_000017.11:20296979:T:G Identity +NM_015001.3:c.7396A>G NP_055816.2:p.Ser2466Gly NC_000001.11:15933635:A:G p.(Ser2466Gly) NC_000001.11:15933635:A:G p.(Ser2466Gly) NC_000001.11:15933635:A:G Identity +NM_001040159.2:c.1209C>A NP_001035249.1:p.Asp403Glu NC_000004.12:166735013:G:T p.(Asp403Glu) NC_000004.12:166735013:G:T p.(Asp403Glu) NC_000004.12:166735013:G:T Identity +NM_000582.3:c.386C>T NP_000573.1:p.Thr129Ile NC_000004.12:87981685:C:T p.(Thr129Ile) NC_000004.12:87981685:C:T p.(Thr129Ile) NC_000004.12:87981685:C:T Identity +NM_001017418.3:c.206C>T NP_001017418.1:p.Pro69Leu NC_000001.11:153070633:G:A p.(Pro69Leu) NC_000001.11:153070633:G:A p.(Pro69Leu) NC_000001.11:153070633:G:A Identity +NM_001146316.2:c.445G>A NP_001139788.1:p.Ala149Thr NC_000012.12:6872456:C:T p.(Ala149Thr) NC_000012.12:6872456:C:T p.(Ala149Thr) NC_000012.12:6872456:C:T Identity +NM_001411025.1:c.2462C>T NP_001397954.1:p.Pro821Leu NC_000011.10:66704834:G:A p.(Pro821Leu) NC_000011.10:66704834:G:A p.(Pro821Leu) NC_000011.10:66704834:G:A Identity +NM_016642.4:c.10925A>T NP_057726.4:p.Gln3642Leu NC_000015.10:41849955:T:A p.(Gln3642Leu) NC_000015.10:41849955:T:A p.(Gln3642Leu) NC_000015.10:41849955:T:A Identity +NM_004599.4:c.3037C>T NP_004590.2:p.Arg1013Trp NC_000022.11:41903098:C:T p.(Arg1013Trp) NC_000022.11:41903098:C:T p.(Arg1013Trp) NC_000022.11:41903098:C:T Identity +NM_001033117.3:c.632G>A NP_001028289.1:p.Arg211His NC_000003.12:9064435:C:T p.(Arg211His) NC_000003.12:9064435:C:T p.(Arg211His) NC_000003.12:9064435:C:T Identity +NM_080823.4:c.916C>T NP_543013.1:p.Arg306Cys NC_000020.11:63542192:G:A p.(Arg306Cys) NC_000020.11:63542192:G:A p.(Arg306Cys) NC_000020.11:63542192:G:A Identity +NM_001303448.2:c.1772G>A NP_001290377.1:p.Arg591Gln NC_000001.11:24666921:G:A p.(Arg591Gln) NC_000001.11:24666921:G:A p.(Arg591Gln) NC_000001.11:24666921:G:A Identity +NM_001376896.1:c.461A>T NP_001363825.1:p.His154Leu NC_000006.12:89098617:T:A p.(His154Leu) NC_000006.12:89098617:T:A p.(His154Leu) NC_000006.12:89098617:T:A Identity +NM_001039465.2:c.613C>T NP_001034554.1:p.Arg205Cys NC_000014.9:69771254:C:T p.(Arg205Cys) NC_000014.9:69771254:C:T p.(Arg205Cys) NC_000014.9:69771254:C:T Identity +NM_001282129.2:c.1597G>C NP_001269058.1:p.Val533Leu NC_000017.11:29636632:C:G p.(Val533Leu) NC_000017.11:29636632:C:G p.(Val533Leu) NC_000017.11:29636632:C:G Identity +NM_017564.10:c.161G>T NP_060034.9:p.Cys54Phe NC_000012.12:103590975:G:T p.(Cys54Phe) NC_000012.12:103590975:G:T p.(Cys54Phe) NC_000012.12:103590975:G:T Identity +NM_006645.3:c.872C>A NP_006636.2:p.Thr291Asn NC_000011.10:72754900:G:T p.(Thr291Asn) NC_000011.10:72754900:G:T p.(Thr291Asn) NC_000011.10:72754900:G:T Identity +NM_001371101.1:c.365C>T NP_001358030.1:p.Pro122Leu NC_000018.10:54324812:G:A p.(Pro122Leu) NC_000018.10:54324812:G:A p.(Pro122Leu) NC_000018.10:54324812:G:A Identity +NM_001142503.3:c.1061C>T NP_001135975.1:p.Thr354Met NC_000023.11:68717974:C:T p.(Thr354Met) NC_000023.11:68717974:C:T p.(Thr354Met) NC_000023.11:68717974:C:T Identity +NM_020759.3:c.772G>A NP_065810.2:p.Glu258Lys NC_000015.10:42662794:G:A p.(Glu258Lys) NC_000015.10:42662794:G:A p.(Glu258Lys) NC_000015.10:42662794:G:A Identity +NM_015000.4:c.785A>G NP_055815.1:p.Asn262Ser NC_000012.12:27315297:A:G p.(Asn262Ser) NC_000012.12:27315297:A:G p.(Asn262Ser) NC_000012.12:27315297:A:G Identity +NM_001256672.2:c.22C>T NP_001243601.1:p.Arg8Trp NC_000015.10:73992201:G:A p.(Arg8Trp) NC_000015.10:73992201:G:A p.(Arg8Trp) NC_000015.10:73992201:G:A Identity +NM_001256430.3:c.2114G>C NP_001243359.1:p.Ser705Thr NC_000014.9:81277196:C:G p.(Ser705Thr) NC_000014.9:81277196:C:G p.(Ser705Thr) NC_000014.9:81277196:C:G Identity +NM_024928.5:c.970T>A NP_079204.2:p.Phe324Ile NC_000010.11:103882820:A:T p.(Phe324Ile) NC_000010.11:103882820:A:T p.(Phe324Ile) NC_000010.11:103882820:A:T Identity +NM_024953.4:c.2167C>T NP_079229.2:p.Arg723Trp NC_000012.12:112043707:G:A p.(Arg723Trp) NC_000012.12:112043707:G:A p.(Arg723Trp) NC_000012.12:112043707:G:A Identity +NM_001300800.1:c.490T>C NP_001287729.1:p.Phe164Leu NC_000011.10:63954029:T:C p.(Phe164Leu) NC_000011.10:63954029:T:C p.(Phe164Leu) NC_000011.10:63954029:T:C Identity +NM_001199012.2:c.545C>T NP_001185941.1:p.Ala182Val NC_000001.11:24373727:G:A p.(Ala182Val) NC_000001.11:24373727:G:A p.(Ala182Val) NC_000001.11:24373727:G:A Identity +NM_153700.2:c.3349C>T NP_714544.1:p.Pro1117Ser NC_000015.10:43610941:G:A p.(Pro1117Ser) NC_000015.10:43610941:G:A p.(Pro1117Ser) NC_000015.10:43610941:G:A Identity +NM_001270768.2:c.1142C>T NP_001257697.1:p.Thr381Met NC_000001.11:110046689:C:T p.(Thr381Met) NC_000001.11:110046689:C:T p.(Thr381Met) NC_000001.11:110046689:C:T Identity +NM_001130161.4:c.2246G>A NP_001123633.1:p.Arg749His NC_000010.11:68886041:G:A p.(Arg749His) NC_000010.11:68886041:G:A p.(Arg749His) NC_000010.11:68886041:G:A Identity +NM_001278503.2:c.280A>G NP_001265432.1:p.Ile94Val NC_000011.10:125602810:A:G p.(Ile94Val) NC_000011.10:125602810:A:G p.(Ile94Val) NC_000011.10:125602810:A:G Identity +NM_178862.3:c.106C>T NP_849193.1:p.Pro36Ser NC_000003.12:31533103:C:T p.(Pro36Ser) NC_000003.12:31533103:C:T p.(Pro36Ser) NC_000003.12:31533103:C:T Identity +NM_001171137.2:c.1907C>A NP_001164608.1:p.Pro636His NC_000009.12:123125666:G:T p.(Pro636His) NC_000009.12:123125666:G:T p.(Pro636His) NC_000009.12:123125666:G:T Identity +NM_001321881.2:c.559A>G NP_001308810.1:p.Ser187Gly NC_000009.12:85975008:A:G p.(Ser187Gly) NC_000009.12:85975008:A:G p.(Ser187Gly) NC_000009.12:85975008:A:G Identity +NM_001320924.3:c.214C>T NP_001307853.1:p.Arg72Cys NC_000017.11:7857065:G:A p.(Arg72Cys) NC_000017.11:7857065:G:A p.(Arg72Cys) NC_000017.11:7857065:G:A Identity +NM_001278503.2:c.1568T>C NP_001265432.1:p.Met523Thr NC_000011.10:125614099:T:C p.(Met523Thr) NC_000011.10:125614099:T:C p.(Met523Thr) NC_000011.10:125614099:T:C Identity +NM_001308445.2:c.466C>T NP_001295374.1:p.Pro156Ser NC_000003.12:113721800:G:A p.(Pro156Ser) NC_000003.12:113721800:G:A p.(Pro156Ser) NC_000003.12:113721800:G:A Identity +NM_001080426.3:c.1741C>A NP_001073895.1:p.Pro581Thr NC_000001.11:167126871:C:A p.(Pro581Thr) NC_000001.11:167126871:C:A p.(Pro581Thr) NC_000001.11:167126871:C:A Identity +NM_001080426.3:c.1901G>A NP_001073895.1:p.Arg634Gln NC_000001.11:167127031:G:A p.(Arg634Gln) NC_000001.11:167127031:G:A p.(Arg634Gln) NC_000001.11:167127031:G:A Identity +NM_001177599.2:c.517G>C NP_001171070.1:p.Gly173Arg NC_000003.12:67520534:C:G p.(Gly173Arg) NC_000003.12:67520534:C:G p.(Gly173Arg) NC_000003.12:67520534:C:G Identity +NM_007269.4:c.305A>G NP_009200.2:p.Lys102Arg NC_000001.11:108758555:A:G p.(Lys102Arg) NC_000001.11:108758555:A:G p.(Lys102Arg) NC_000001.11:108758555:A:G Identity +NM_001080426.3:c.3347G>A NP_001073895.1:p.Arg1116Gln NC_000001.11:167128477:G:A p.(Arg1116Gln) NC_000001.11:167128477:G:A p.(Arg1116Gln) NC_000001.11:167128477:G:A Identity +NM_001080426.3:c.2186A>G NP_001073895.1:p.Asn729Ser NC_000001.11:167127316:A:G p.(Asn729Ser) NC_000001.11:167127316:A:G p.(Asn729Ser) NC_000001.11:167127316:A:G Identity +NM_001080426.3:c.2422C>T NP_001073895.1:p.Pro808Ser NC_000001.11:167127552:C:T p.(Pro808Ser) NC_000001.11:167127552:C:T p.(Pro808Ser) NC_000001.11:167127552:C:T Identity +NM_172231.4:c.1282C>G NP_757386.2:p.Pro428Ala NC_000019.10:19280252:G:C p.(Pro428Ala) NC_000019.10:19280252:G:C p.(Pro428Ala) NC_000019.10:19280252:G:C Identity +NM_172231.4:c.1818T>G NP_757386.2:p.Ile606Met NC_000019.10:19277039:A:C p.(Ile606Met) NC_000019.10:19277039:A:C p.(Ile606Met) NC_000019.10:19277039:A:C Identity +NM_001300930.2:c.487G>C NP_001287859.1:p.Asp163His NC_000011.10:90150484:G:C p.(Asp163His) NC_000011.10:90150484:G:C p.(Asp163His) NC_000011.10:90150484:G:C Identity +NM_001320755.2:c.2453G>A NP_001307684.1:p.Arg818Gln NC_000017.11:28684926:G:A p.(Arg818Gln) NC_000017.11:28684926:G:A p.(Arg818Gln) NC_000017.11:28684926:G:A Identity +NM_207015.3:c.2048C>T NP_996898.2:p.Ala683Val NC_000003.12:175755276:C:T p.(Ala683Val) NC_000003.12:175755276:C:T p.(Ala683Val) NC_000003.12:175755276:C:T Identity +NM_019601.4:c.2260G>A NP_062547.1:p.Gly754Ser NC_000022.11:24188053:G:A p.(Gly754Ser) NC_000022.11:24188053:G:A p.(Gly754Ser) NC_000022.11:24188053:G:A Identity +NM_015551.2:c.1379T>C NP_056366.1:p.Ile460Thr NC_000003.12:33153252:A:G p.(Ile460Thr) NC_000003.12:33153252:A:G p.(Ile460Thr) NC_000003.12:33153252:A:G Identity +NM_001321312.2:c.1210G>A NP_001308241.1:p.Glu404Lys NC_000002.12:190685589:G:A p.(Glu404Lys) NC_000002.12:190685589:G:A p.(Glu404Lys) NC_000002.12:190685589:G:A Identity +NM_172231.4:c.1891C>T NP_757386.2:p.Arg631Cys NC_000019.10:19276966:G:A p.(Arg631Cys) NC_000019.10:19276966:G:A p.(Arg631Cys) NC_000019.10:19276966:G:A Identity +NM_001323031.2:c.68A>G NP_001309960.1:p.Asn23Ser NC_000015.10:91226330:A:G p.(Asn23Ser) NC_000015.10:91226330:A:G p.(Asn23Ser) NC_000015.10:91226330:A:G Identity +NM_153366.4:c.6433C>T NP_699197.3:p.Arg2145Trp NC_000009.12:110411277:G:A p.(Arg2145Trp) NC_000009.12:110411277:G:A p.(Arg2145Trp) NC_000009.12:110411277:G:A Identity +NM_001164674.2:c.22C>G NP_001158146.1:p.Leu8Val NC_000003.12:4467223:G:C p.(Leu8Val) NC_000003.12:4467223:G:C p.(Leu8Val) NC_000003.12:4467223:G:C Identity +NM_001111020.3:c.1804G>A NP_001104490.1:p.Val602Ile NC_000019.10:39471482:G:A p.(Val602Ile) NC_000019.10:39471482:G:A p.(Val602Ile) NC_000019.10:39471482:G:A Identity +NM_001300910.2:c.979C>T NP_001287839.1:p.Arg327Cys NC_000019.10:15110624:C:T p.(Arg327Cys) NC_000019.10:15110624:C:T p.(Arg327Cys) NC_000019.10:15110624:C:T Identity +NM_001371403.1:c.751A>G NP_001358332.1:p.Lys251Glu NC_000004.12:89911950:A:G p.(Lys251Glu) NC_000004.12:89911950:A:G p.(Lys251Glu) NC_000004.12:89911950:A:G Identity +NM_001278942.2:c.475G>A NP_001265871.1:p.Glu159Lys NC_000009.12:133332677:C:T p.(Glu159Lys) NC_000009.12:133332677:C:T p.(Glu159Lys) NC_000009.12:133332677:C:T Identity +NM_015551.2:c.1031A>G NP_056366.1:p.Asp344Gly NC_000003.12:33153600:T:C p.(Asp344Gly) NC_000003.12:33153600:T:C p.(Asp344Gly) NC_000003.12:33153600:T:C Identity +NM_153366.4:c.6815A>G NP_699197.3:p.Asn2272Ser NC_000009.12:110408784:T:C p.(Asn2272Ser) NC_000009.12:110408784:T:C p.(Asn2272Ser) NC_000009.12:110408784:T:C Identity +NM_001105518.2:c.254G>T NP_001098988.1:p.Arg85Met NC_000001.11:185174400:G:T p.(Arg85Met) NC_000001.11:185174400:G:T p.(Arg85Met) NC_000001.11:185174400:G:T Identity +NM_001371403.1:c.87A>G NP_001358332.1:p.Ile29Met NC_000004.12:89895057:A:G p.(Ile29Met) NC_000004.12:89895057:A:G p.(Ile29Met) NC_000004.12:89895057:A:G Identity +NM_001410947.1:c.187T>A NP_001397876.1:p.Cys63Ser NC_000006.12:158017262:T:A p.(Cys63Ser) NC_000006.12:158017262:T:A p.(Cys63Ser) NC_000006.12:158017262:T:A Identity +NM_001139456.2:c.731G>A NP_001132928.1:p.Arg244His NC_000007.14:138644774:C:T p.(Arg244His) NC_000007.14:138644774:C:T p.(Arg244His) NC_000007.14:138644774:C:T Identity +NM_001040274.3:c.2374T>A NP_001035364.2:p.Ser792Thr NC_000006.12:10961517:T:A p.(Ser792Thr) NC_000006.12:10961517:T:A p.(Ser792Thr) NC_000006.12:10961517:T:A Identity +NM_001363692.2:c.2840G>A NP_001350621.1:p.Ser947Asn NC_000014.9:95417898:C:T p.(Ser947Asn) NC_000014.9:95417898:C:T p.(Ser947Asn) NC_000014.9:95417898:C:T Identity +NM_014258.4:c.1643A>G NP_055073.2:p.His548Arg NC_000020.11:59895458:T:C p.(His548Arg) NC_000020.11:59895458:T:C p.(His548Arg) NC_000020.11:59895458:T:C Identity +NM_001367652.1:c.493T>C NP_001354581.1:p.Cys165Arg NC_000014.9:62075220:T:C p.(Cys165Arg) NC_000014.9:62075220:T:C p.(Cys165Arg) NC_000014.9:62075220:T:C Identity +NM_015180.6:c.10462C>T NP_055995.4:p.Leu3488Phe NC_000014.9:64070674:C:T p.(Leu3488Phe) NC_000014.9:64070674:C:T p.(Leu3488Phe) NC_000014.9:64070674:C:T Identity +NM_004711.5:c.689C>T NP_004702.2:p.Ser230Leu NC_000022.11:39381900:C:T p.(Ser230Leu) NC_000022.11:39381900:C:T p.(Ser230Leu) NC_000022.11:39381900:C:T Identity +NM_001178088.2:c.2251G>C NP_001171559.1:p.Val751Leu NC_000006.12:158083524:G:C p.(Val751Leu) NC_000006.12:158083524:G:C p.(Val751Leu) NC_000006.12:158083524:G:C Identity +NM_145728.3:c.3992C>T NP_663780.2:p.Pro1331Leu NC_000015.10:99132351:C:T p.(Pro1331Leu) NC_000015.10:99132351:C:T p.(Pro1331Leu) NC_000015.10:99132351:C:T Identity +NM_001109974.3:c.419A>T NP_001103444.1:p.Asp140Val NC_000005.10:150648693:A:T p.(Asp140Val) NC_000005.10:150648693:A:T p.(Asp140Val) NC_000005.10:150648693:A:T Identity +NM_001130003.2:c.673T>G NP_001123475.1:p.Ser225Ala NC_000003.12:63615295:T:G p.(Ser225Ala) NC_000003.12:63615295:T:G p.(Ser225Ala) NC_000003.12:63615295:T:G Identity +NM_001146261.4:c.1699C>G NP_001139733.1:p.Leu567Val NC_000001.11:210160880:C:G p.(Leu567Val) NC_000001.11:210160880:C:G p.(Leu567Val) NC_000001.11:210160880:C:G Identity +NM_001162951.4:c.1451G>A NP_001156423.1:p.Arg484His NC_000011.10:85727903:C:T p.(Arg484His) NC_000011.10:85727903:C:T p.(Arg484His) NC_000011.10:85727903:C:T Identity +NM_001162951.4:c.1637C>A NP_001156423.1:p.Pro546His NC_000011.10:85714485:G:T p.(Pro546His) NC_000011.10:85714485:G:T p.(Pro546His) NC_000011.10:85714485:G:T Identity +NM_024756.3:c.1574G>A NP_079032.2:p.Arg525Gln NC_000010.11:86943209:C:T p.(Arg525Gln) NC_000010.11:86943209:C:T p.(Arg525Gln) NC_000010.11:86943209:C:T Identity +NM_001146334.2:c.25G>A NP_001139806.1:p.Glu9Lys NC_000007.14:45088869:C:T p.(Glu9Lys) NC_000007.14:45088869:C:T p.(Glu9Lys) NC_000007.14:45088869:C:T Identity +NM_001410947.1:c.502G>T NP_001397876.1:p.Val168Leu NC_000006.12:158033470:G:T p.(Val168Leu) NC_000006.12:158033470:G:T p.(Val168Leu) NC_000006.12:158033470:G:T Identity +NM_001198993.2:c.494G>A NP_001185922.1:p.Arg165Gln NC_000001.11:1756507:C:T p.(Arg165Gln) NC_000001.11:1756507:C:T p.(Arg165Gln) NC_000001.11:1756507:C:T Identity +NM_001291876.2:c.337T>A NP_001278805.2:p.Phe113Ile NC_000010.11:122082836:T:A p.(Phe113Ile) NC_000010.11:122082836:T:A p.(Phe113Ile) NC_000010.11:122082836:T:A Identity +NM_001410699.1:c.362C>T NP_001397628.1:p.Thr121Ile NC_000004.12:1730942:C:T p.(Thr121Ile) NC_000004.12:1730942:C:T p.(Thr121Ile) NC_000004.12:1730942:C:T Identity +NM_001114133.3:c.23T>A NP_001107605.1:p.Leu8Gln NC_000010.11:73655899:A:T p.(Leu8Gln) NC_000010.11:73655899:A:T p.(Leu8Gln) NC_000010.11:73655899:A:T Identity +NM_001367650.1:c.415C>G NP_001354579.1:p.Arg139Gly NC_000014.9:62081172:C:G p.(Arg139Gly) NC_000014.9:62081172:C:G p.(Arg139Gly) NC_000014.9:62081172:C:G Identity +NM_001193308.2:c.376G>A NP_001180237.1:p.Ala126Thr NC_000001.11:27347842:G:A p.(Ala126Thr) NC_000001.11:27347842:G:A p.(Ala126Thr) NC_000001.11:27347842:G:A Identity +NM_001198994.2:c.419C>A NP_001185923.1:p.Pro140Gln NC_000001.11:1759746:G:T p.(Pro140Gln) NC_000001.11:1759746:G:T p.(Pro140Gln) NC_000001.11:1759746:G:T Identity +NM_001365999.1:c.9066C>G NP_001352928.1:p.Asn3022Lys NC_000001.11:43446409:C:G p.(Asn3022Lys) NC_000001.11:43446409:C:G p.(Asn3022Lys) NC_000001.11:43446409:C:G Identity +NM_001178054.2:c.91G>C NP_001171525.1:p.Val31Leu NC_000012.12:57015706:C:G p.(Val31Leu) NC_000012.12:57015706:C:G p.(Val31Leu) NC_000012.12:57015706:C:G Identity +NM_198992.4:c.240T>G NP_945343.1:p.Cys80Trp NC_000012.12:33426406:A:C p.(Cys80Trp) NC_000012.12:33426406:A:C p.(Cys80Trp) NC_000012.12:33426406:A:C Identity +NM_005680.3:c.95C>T NP_005671.3:p.Thr32Ile NC_000002.12:9845295:C:T p.(Thr32Ile) NC_000002.12:9845295:C:T p.(Thr32Ile) NC_000002.12:9845295:C:T Identity +NM_024116.4:c.421G>A NP_077021.1:p.Glu141Lys NC_000011.10:93738146:C:T p.(Glu141Lys) NC_000011.10:93738146:C:T p.(Glu141Lys) NC_000011.10:93738146:C:T Identity +NM_001009991.4:c.746G>T NP_001009991.2:p.Cys249Phe NC_000006.12:158745573:G:T p.(Cys249Phe) NC_000006.12:158745573:G:T p.(Cys249Phe) NC_000006.12:158745573:G:T Identity +NM_001389527.1:c.559C>T NP_001376456.1:p.Pro187Ser NC_000006.12:132589127:G:A p.(Pro187Ser) NC_000006.12:132589127:G:A p.(Pro187Ser) NC_000006.12:132589127:G:A Identity +NM_001243156.2:c.1868C>G NP_001230085.2:p.Ala623Gly NC_000016.10:84179604:G:C p.(Ala623Gly) NC_000016.10:84179604:G:C p.(Ala623Gly) NC_000016.10:84179604:G:C Identity +NM_031923.4:c.1689G>C NP_114129.1:p.Glu563Asp NC_000010.11:7965198:G:C p.(Glu563Asp) NC_000010.11:7965198:G:C p.(Glu563Asp) NC_000010.11:7965198:G:C Identity +NM_003185.4:c.2719C>T NP_003176.2:p.Gln907Ter NC_000020.11:62000191:G:A p.(Gln907Ter) NC_000020.11:62000191:G:A p.(Gln907Ter) NC_000020.11:62000191:G:A Identity +NM_001009991.4:c.230G>A NP_001009991.2:p.Gly77Asp NC_000006.12:158665513:G:A p.(Gly77Asp) NC_000006.12:158665513:G:A p.(Gly77Asp) NC_000006.12:158665513:G:A Identity +NM_001291876.2:c.5641G>T NP_001278805.2:p.Ala1881Ser NC_000010.11:122132675:G:T p.(Ala1881Ser) NC_000010.11:122132675:G:T p.(Ala1881Ser) NC_000010.11:122132675:G:T Identity +NM_001291876.2:c.5693C>A NP_001278805.2:p.Ala1898Asp NC_000010.11:122132727:C:A p.(Ala1898Asp) NC_000010.11:122132727:C:A p.(Ala1898Asp) NC_000010.11:122132727:C:A Identity +NM_006473.4:c.1611G>C NP_006464.1:p.Gln537His NC_000011.10:62787037:G:C p.(Gln537His) NC_000011.10:62787037:G:C p.(Gln537His) NC_000011.10:62787037:G:C Identity +NM_024756.3:c.647C>G NP_079032.2:p.Thr216Arg NC_000010.11:86944269:G:C p.(Thr216Arg) NC_000010.11:86944269:G:C p.(Thr216Arg) NC_000010.11:86944269:G:C Identity +NM_016360.4:c.862G>T NP_057444.2:p.Asp288Tyr NC_000017.11:63607969:G:T p.(Asp288Tyr) NC_000017.11:63607969:G:T p.(Asp288Tyr) NC_000017.11:63607969:G:T Identity +NM_006284.4:c.503A>G NP_006275.1:p.Asn168Ser NC_000011.10:6611252:T:C p.(Asn168Ser) NC_000011.10:6611252:T:C p.(Asn168Ser) NC_000011.10:6611252:T:C Identity +NM_005680.3:c.548A>T NP_005671.3:p.Gln183Leu NC_000002.12:9868423:A:T p.(Gln183Leu) NC_000002.12:9868423:A:T p.(Gln183Leu) NC_000002.12:9868423:A:T Identity +NM_152334.3:c.2227A>T NP_689547.2:p.Asn743Tyr NC_000015.10:101656954:T:A p.(Asn743Tyr) NC_000015.10:101656954:T:A p.(Asn743Tyr) NC_000015.10:101656954:T:A Identity +NM_152228.3:c.2255G>A NP_689414.2:p.Arg752Gln NC_000001.11:1334159:G:A p.(Arg752Gln) NC_000001.11:1334159:G:A p.(Arg752Gln) NC_000001.11:1334159:G:A Identity +NM_014409.4:c.1696G>A NP_055224.1:p.Val566Ile NC_000001.11:229594370:C:T p.(Val566Ile) NC_000001.11:229594370:C:T p.(Val566Ile) NC_000001.11:229594370:C:T Identity +NM_001410906.1:c.854G>T NP_001397835.1:p.Gly285Val NC_000006.12:42077172:G:T p.(Gly285Val) NC_000006.12:42077172:G:T p.(Gly285Val) NC_000006.12:42077172:G:T Identity +NM_001004440.2:c.53T>G NP_001004440.1:p.Leu18Arg NC_000001.11:112722285:T:G p.(Leu18Arg) NC_000001.11:112722285:T:G p.(Leu18Arg) NC_000001.11:112722285:T:G Identity +NM_001284401.2:c.596C>A NP_001271330.1:p.Thr199Lys NC_000003.12:11817303:G:T p.(Thr199Lys) NC_000003.12:11817303:G:T p.(Thr199Lys) NC_000003.12:11817303:G:T Identity +NM_152334.3:c.817G>A NP_689547.2:p.Val273Met NC_000015.10:101708905:C:T p.(Val273Met) NC_000015.10:101708905:C:T p.(Val273Met) NC_000015.10:101708905:C:T Identity +NM_001278733.2:c.1717C>G NP_001265662.1:p.Pro573Ala NC_000006.12:159036116:G:C p.(Pro573Ala) NC_000006.12:159036116:G:C p.(Pro573Ala) NC_000006.12:159036116:G:C Identity +NM_001271856.2:c.37G>A NP_001258785.1:p.Ala13Thr NC_000012.12:52013697:G:A p.(Ala13Thr) NC_000012.12:52013697:G:A p.(Ala13Thr) NC_000012.12:52013697:G:A Identity +NM_001284401.2:c.445C>G NP_001271330.1:p.Leu149Val NC_000003.12:11829830:G:C p.(Leu149Val) NC_000003.12:11829830:G:C p.(Leu149Val) NC_000003.12:11829830:G:C Identity +NM_001284401.2:c.508G>A NP_001271330.1:p.Glu170Lys NC_000003.12:11829767:C:T p.(Glu170Lys) NC_000003.12:11829767:C:T p.(Glu170Lys) NC_000003.12:11829767:C:T Identity +NM_024562.2:c.2939A>T NP_078838.1:p.Asn980Ile NC_000016.10:69022923:A:T p.(Asn980Ile) NC_000016.10:69022923:A:T p.(Asn980Ile) NC_000016.10:69022923:A:T Identity +NM_001346870.2:c.232C>T NP_001333799.1:p.Pro78Ser NC_000005.10:71012683:G:A p.(Pro78Ser) NC_000005.10:71012683:G:A p.(Pro78Ser) NC_000005.10:71012683:G:A Identity +NM_005646.4:c.2825A>G NP_005637.3:p.Asp942Gly NC_000001.11:234429461:T:C p.(Asp942Gly) NC_000001.11:234429461:T:C p.(Asp942Gly) NC_000001.11:234429461:T:C Identity +NM_152334.3:c.2152A>G NP_689547.2:p.Ser718Gly NC_000015.10:101657029:T:C p.(Ser718Gly) NC_000015.10:101657029:T:C p.(Ser718Gly) NC_000015.10:101657029:T:C Identity +NM_152334.3:c.880C>T NP_689547.2:p.Pro294Ser NC_000015.10:101708842:G:A p.(Pro294Ser) NC_000015.10:101708842:G:A p.(Pro294Ser) NC_000015.10:101708842:G:A Identity +NM_018980.3:c.334C>T NP_061853.1:p.Arg112Cys NC_000007.14:141790694:C:T p.(Arg112Cys) NC_000007.14:141790694:C:T p.(Arg112Cys) NC_000007.14:141790694:C:T Identity +NM_005646.4:c.1184G>A NP_005637.3:p.Gly395Asp NC_000001.11:234467565:C:T p.(Gly395Asp) NC_000001.11:234467565:C:T p.(Gly395Asp) NC_000001.11:234467565:C:T Identity +NM_001258437.1:c.123T>G NP_001245366.1:p.Asp41Glu NC_000005.10:33445388:T:G p.(Asp41Glu) NC_000005.10:33445388:T:G p.(Asp41Glu) NC_000005.10:33445388:T:G Identity +NM_152334.3:c.415G>A NP_689547.2:p.Glu139Lys NC_000015.10:101721276:C:T p.(Glu139Lys) NC_000015.10:101721276:C:T p.(Glu139Lys) NC_000015.10:101721276:C:T Identity +NM_138697.4:c.949C>T NP_619642.2:p.Arg317Cys NC_000001.11:6575080:C:T p.(Arg317Cys) NC_000001.11:6575080:C:T p.(Arg317Cys) NC_000001.11:6575080:C:T Identity +NM_001321783.2:c.5915A>G NP_001308712.2:p.Gln1972Arg NC_000010.11:5749335:A:G p.(Gln1972Arg) NC_000010.11:5749335:A:G p.(Gln1972Arg) NC_000010.11:5749335:A:G Identity +NM_001112736.2:c.4372A>G NP_001106207.1:p.Thr1458Ala NC_000003.12:56624589:T:C p.(Thr1458Ala) NC_000003.12:56624589:T:C p.(Thr1458Ala) NC_000003.12:56624589:T:C Identity +NM_001369494.1:c.967C>T NP_001356423.1:p.Arg323Trp NC_000011.10:67409682:C:T p.(Arg323Trp) NC_000011.10:67409682:C:T p.(Arg323Trp) NC_000011.10:67409682:C:T Identity +NM_023917.2:c.448G>A NP_076406.1:p.Asp150Asn NC_000012.12:10809627:C:T p.(Asp150Asn) NC_000012.12:10809627:C:T p.(Asp150Asn) NC_000012.12:10809627:C:T Identity +NM_001321783.2:c.1053G>C NP_001308712.2:p.Arg351Ser NC_000010.11:5731051:G:C p.(Arg351Ser) NC_000010.11:5731051:G:C p.(Arg351Ser) NC_000010.11:5731051:G:C Identity +NM_001146213.3:c.70T>A NP_001139685.2:p.Cys24Ser NC_000012.12:71872108:T:A p.(Cys24Ser) NC_000012.12:71872108:T:A p.(Cys24Ser) NC_000012.12:71872108:T:A Identity +NM_001199198.3:c.1010G>A NP_001186127.1:p.Arg337Gln NC_000003.12:100299248:G:A p.(Arg337Gln) NC_000003.12:100299248:G:A p.(Arg337Gln) NC_000003.12:100299248:G:A Identity +NM_001350748.2:c.4552C>T NP_001337677.1:p.Arg1518Cys NC_000013.11:101065542:G:A p.(Arg1518Cys) NC_000013.11:101065542:G:A p.(Arg1518Cys) NC_000013.11:101065542:G:A Identity +NM_001321783.2:c.5060C>T NP_001308712.2:p.Ala1687Val NC_000010.11:5748480:C:T p.(Ala1687Val) NC_000010.11:5748480:C:T p.(Ala1687Val) NC_000010.11:5748480:C:T Identity +NM_001321783.2:c.5464A>T NP_001308712.2:p.Met1822Leu NC_000010.11:5748884:A:T p.(Met1822Leu) NC_000010.11:5748884:A:T p.(Met1822Leu) NC_000010.11:5748884:A:T Identity +NM_001321783.2:c.5840A>G NP_001308712.2:p.His1947Arg NC_000010.11:5749260:A:G p.(His1947Arg) NC_000010.11:5749260:A:G p.(His1947Arg) NC_000010.11:5749260:A:G Identity +NM_001204698.2:c.46G>T NP_001191627.1:p.Val16Phe NC_000017.11:3664791:C:A p.(Val16Phe) NC_000017.11:3664791:C:A p.(Val16Phe) NC_000017.11:3664791:C:A Identity +NM_015527.4:c.242C>G NP_056342.3:p.Ala81Gly NC_000016.10:30369941:G:C p.(Ala81Gly) NC_000016.10:30369941:G:C p.(Ala81Gly) NC_000016.10:30369941:G:C Identity +NM_001168222.2:c.785G>A NP_001161694.1:p.Arg262His NC_000019.10:49882848:G:A p.(Arg262His) NC_000019.10:49882848:G:A p.(Arg262His) NC_000019.10:49882848:G:A Identity +NM_001387142.1:c.212A>G NP_001374071.1:p.Lys71Arg NC_000015.10:78077440:T:C p.(Lys71Arg) NC_000015.10:78077440:T:C p.(Lys71Arg) NC_000015.10:78077440:T:C Identity +NM_015527.4:c.44A>G NP_056342.3:p.His15Arg NC_000016.10:30370139:T:C p.(His15Arg) NC_000016.10:30370139:T:C p.(His15Arg) NC_000016.10:30370139:T:C Identity +NM_006453.3:c.910G>A NP_006444.2:p.Ala304Thr NC_000016.10:1975632:G:A p.(Ala304Thr) NC_000016.10:1975632:G:A p.(Ala304Thr) NC_000016.10:1975632:G:A Identity +NM_019020.4:c.404C>T NP_061893.2:p.Thr135Ile NC_000017.11:80010534:G:A p.(Thr135Ile) NC_000017.11:80010534:G:A p.(Thr135Ile) NC_000017.11:80010534:G:A Identity +NM_001348262.2:c.1431G>C NP_001335191.1:p.Arg477Ser NC_000023.11:48560290:G:C p.(Arg477Ser) NC_000023.11:48560290:G:C p.(Arg477Ser) NC_000023.11:48560290:G:C Identity +NM_001394755.1:c.509G>T NP_001381684.1:p.Arg170Leu NC_000017.11:47698649:G:T p.(Arg170Leu) NC_000017.11:47698649:G:T p.(Arg170Leu) NC_000017.11:47698649:G:T Identity +NM_001271844.2:c.863C>T NP_001258773.1:p.Thr288Met NC_000017.11:79942126:G:A p.(Thr288Met) NC_000017.11:79942126:G:A p.(Thr288Met) NC_000017.11:79942126:G:A Identity +NM_005746.3:c.1340A>G NP_005737.1:p.Lys447Arg NC_000007.14:106253041:T:C p.(Lys447Arg) NC_000007.14:106253041:T:C p.(Lys447Arg) NC_000007.14:106253041:T:C Identity +NM_001387144.1:c.371G>A NP_001374073.1:p.Arg124His NC_000015.10:78054176:C:T p.(Arg124His) NC_000015.10:78054176:C:T p.(Arg124His) NC_000015.10:78054176:C:T Identity +NM_001387142.1:c.608C>T NP_001374071.1:p.Ala203Val NC_000015.10:78044974:G:A p.(Ala203Val) NC_000015.10:78044974:G:A p.(Ala203Val) NC_000015.10:78044974:G:A Identity +NM_001369375.1:c.56A>C NP_001356304.1:p.Lys19Thr NC_000011.10:2978300:T:G p.(Lys19Thr) NC_000011.10:2978300:T:G p.(Lys19Thr) NC_000011.10:2978300:T:G Identity +NM_001006935.3:c.439G>A NP_001006936.1:p.Asp147Asn NC_000023.11:103587113:G:A p.(Asp147Asn) NC_000023.11:103587113:G:A p.(Asp147Asn) NC_000023.11:103587113:G:A Identity +NM_001297740.2:c.165T>A NP_001284669.1:p.Asn55Lys NC_000005.10:77691492:A:T p.(Asn55Lys) NC_000005.10:77691492:A:T p.(Asn55Lys) NC_000005.10:77691492:A:T Identity +NM_003192.3:c.147C>A NP_003183.2:p.Asn49Lys NC_000006.12:42745926:G:T p.(Asn49Lys) NC_000006.12:42745926:G:T p.(Asn49Lys) NC_000006.12:42745926:G:T Identity +NM_003192.3:c.533T>C NP_003183.2:p.Leu178Pro NC_000006.12:42745540:A:G p.(Leu178Pro) NC_000006.12:42745540:A:G p.(Leu178Pro) NC_000006.12:42745540:A:G Identity +NM_001411101.1:c.688G>A NP_001398030.1:p.Val230Ile NC_000017.11:82781688:G:A p.(Val230Ile) NC_000017.11:82781688:G:A p.(Val230Ile) NC_000017.11:82781688:G:A Identity +NM_006453.3:c.1921G>A NP_006444.2:p.Ala641Thr NC_000016.10:1977762:G:A p.(Ala641Thr) NC_000016.10:1977762:G:A p.(Ala641Thr) NC_000016.10:1977762:G:A Identity +NM_005994.4:c.847A>G NP_005985.3:p.Lys283Glu NC_000017.11:61404456:A:G p.(Lys283Glu) NC_000017.11:61404456:A:G p.(Lys283Glu) NC_000017.11:61404456:A:G Identity +NM_153757.4:c.297T>G NP_715638.1:p.Asp99Glu NC_000004.12:88697457:A:C p.(Asp99Glu) NC_000004.12:88697457:A:C p.(Asp99Glu) NC_000004.12:88697457:A:C Identity +NM_175769.3:c.539C>A NP_786951.1:p.Thr180Asn NC_000002.12:27152760:C:A p.(Thr180Asn) NC_000002.12:27152760:C:A p.(Thr180Asn) NC_000002.12:27152760:C:A Identity +NM_001289403.2:c.194G>A NP_001276332.1:p.Arg65Gln NC_000010.11:97481009:C:T p.(Arg65Gln) NC_000010.11:97481009:C:T p.(Arg65Gln) NC_000010.11:97481009:C:T Identity +NM_014972.3:c.1429G>A NP_055787.1:p.Val477Ile NC_000016.10:89904164:G:A p.(Val477Ile) NC_000016.10:89904164:G:A p.(Val477Ile) NC_000016.10:89904164:G:A Identity +NM_001301726.2:c.473C>T NP_001288655.1:p.Ala158Val NC_000020.11:62861197:G:A p.(Ala158Val) NC_000020.11:62861197:G:A p.(Ala158Val) NC_000020.11:62861197:G:A Identity +NM_001351059.2:c.815C>G NP_001337988.1:p.Thr272Arg NC_000011.10:68049115:C:G p.(Thr272Arg) NC_000011.10:68049115:C:G p.(Thr272Arg) NC_000011.10:68049115:C:G Identity +NM_000356.4:c.3610G>T NP_000347.2:p.Ala1204Ser NC_000005.10:150396340:G:T p.(Ala1204Ser) NC_000005.10:150396340:G:T p.(Ala1204Ser) NC_000005.10:150396340:G:T Identity +NM_001062.4:c.419C>T NP_001053.2:p.Pro140Leu NC_000011.10:59861663:G:A p.(Pro140Leu) NC_000011.10:59861663:G:A p.(Pro140Leu) NC_000011.10:59861663:G:A Identity +NM_000356.4:c.2795C>T NP_000347.2:p.Ala932Val NC_000005.10:150388067:C:T p.(Ala932Val) NC_000005.10:150388067:C:T p.(Ala932Val) NC_000005.10:150388067:C:T Identity +NM_004608.4:c.961G>C NP_004599.2:p.Glu321Gln NC_000016.10:30086647:C:G p.(Glu321Gln) NC_000016.10:30086647:C:G p.(Glu321Gln) NC_000016.10:30086647:C:G Identity +NM_001040006.2:c.1559A>T NP_001035095.1:p.Asp520Val NC_000005.10:146478512:A:T p.(Asp520Val) NC_000005.10:146478512:A:T p.(Asp520Val) NC_000005.10:146478512:A:T Identity +NM_175769.3:c.566A>G NP_786951.1:p.Glu189Gly NC_000002.12:27152787:A:G p.(Glu189Gly) NC_000002.12:27152787:A:G p.(Glu189Gly) NC_000002.12:27152787:A:G Identity +NM_001283018.2:c.385A>G NP_001269947.1:p.Ile129Val NC_000020.11:23394968:T:C p.(Ile129Val) NC_000020.11:23394968:T:C p.(Ile129Val) NC_000020.11:23394968:T:C Identity +NM_080390.4:c.113A>G NP_525129.1:p.Asp38Gly NC_000023.11:102126942:A:G p.(Asp38Gly) NC_000023.11:102126942:A:G p.(Asp38Gly) NC_000023.11:102126942:A:G Identity +NM_001136139.4:c.1295C>A NP_001129611.1:p.Pro432His NC_000019.10:1619346:G:T p.(Pro432His) NC_000019.10:1619346:G:T p.(Pro432His) NC_000019.10:1619346:G:T Identity +NM_182539.4:c.757G>A NP_872345.2:p.Gly253Ser NC_000006.12:44286052:C:T p.(Gly253Ser) NC_000006.12:44286052:C:T p.(Gly253Ser) NC_000006.12:44286052:C:T Identity +NM_001010870.3:c.2423A>G NP_001010870.1:p.Tyr808Cys NC_000006.12:46690550:A:G p.(Tyr808Cys) NC_000006.12:46690550:A:G p.(Tyr808Cys) NC_000006.12:46690550:A:G Identity +NM_153046.3:c.2743G>A NP_694591.2:p.Gly915Arg NC_000014.9:104025587:G:A p.(Gly915Arg) NC_000014.9:104025587:G:A p.(Gly915Arg) NC_000014.9:104025587:G:A Identity +NM_007113.4:c.2342G>A NP_009044.2:p.Arg781His NC_000001.11:152110874:C:T p.(Arg781His) NC_000001.11:152110874:C:T p.(Arg781His) NC_000001.11:152110874:C:T Identity +NM_001062.4:c.1006G>A NP_001053.2:p.Val336Ile NC_000011.10:59854766:C:T p.(Val336Ile) NC_000011.10:59854766:C:T p.(Val336Ile) NC_000011.10:59854766:C:T Identity +NM_001134851.4:c.611A>G NP_001128323.2:p.Tyr204Cys NC_000005.10:134143029:A:G p.(Tyr204Cys) NC_000005.10:134143029:A:G p.(Tyr204Cys) NC_000005.10:134143029:A:G Identity +NM_007113.4:c.3872G>A NP_009044.2:p.Arg1291Lys NC_000001.11:152109344:C:T p.(Arg1291Lys) NC_000001.11:152109344:C:T p.(Arg1291Lys) NC_000001.11:152109344:C:T Identity +NM_007113.4:c.4496G>C NP_009044.2:p.Arg1499Pro NC_000001.11:152108720:C:G p.(Arg1499Pro) NC_000001.11:152108720:C:G p.(Arg1499Pro) NC_000001.11:152108720:C:G Identity +NM_152772.3:c.1091C>T NP_689985.1:p.Ala364Val NC_000012.12:106336161:C:T p.(Ala364Val) NC_000012.12:106336161:C:T p.(Ala364Val) NC_000012.12:106336161:C:T Identity +NM_182539.4:c.116A>G NP_872345.2:p.Lys39Arg NC_000006.12:44287709:T:C p.(Lys39Arg) NC_000006.12:44287709:T:C p.(Lys39Arg) NC_000006.12:44287709:T:C Identity +NM_015395.3:c.247T>C NP_056210.1:p.Phe83Leu NC_000007.14:98245045:A:G p.(Phe83Leu) NC_000007.14:98245045:A:G p.(Phe83Leu) NC_000007.14:98245045:A:G Identity +NM_001378761.1:c.3244C>A NP_001365690.1:p.Pro1082Thr NC_000011.10:121128263:C:A p.(Pro1082Thr) NC_000011.10:121128263:C:A p.(Pro1082Thr) NC_000011.10:121128263:C:A Identity +NM_053285.2:c.1249G>C NP_444515.1:p.Val417Leu NC_000017.11:6800034:C:G p.(Val417Leu) NC_000017.11:6800034:C:G p.(Val417Leu) NC_000017.11:6800034:C:G Identity +NM_001286559.2:c.698G>A NP_001273488.1:p.Arg233His NC_000002.12:94876704:G:A p.(Arg233His) NC_000002.12:94876704:G:A p.(Arg233His) NC_000002.12:94876704:G:A Identity +NM_004539.4:c.538G>A NP_004530.1:p.Ala180Thr NC_000018.10:57609397:C:T p.(Ala180Thr) NC_000018.10:57609397:C:T p.(Ala180Thr) NC_000018.10:57609397:C:T Identity +NM_144705.4:c.367A>G NP_653306.1:p.Lys123Glu NC_000002.12:94871945:A:G p.(Lys123Glu) NC_000002.12:94871945:A:G p.(Lys123Glu) NC_000002.12:94871945:A:G Identity +NM_001286829.2:c.551C>T NP_001273758.1:p.Thr184Ile NC_000008.11:143577285:G:A p.(Thr184Ile) NC_000008.11:143577285:G:A p.(Thr184Ile) NC_000008.11:143577285:G:A Identity +NM_001083963.1:c.1652G>C NP_001077432.1:p.Gly551Ala NC_000001.11:151774485:C:G p.(Gly551Ala) NC_000001.11:151774485:C:G p.(Gly551Ala) NC_000001.11:151774485:C:G Identity +NM_001163278.2:c.4210C>T NP_001156750.1:p.Arg1404Trp NC_000023.11:124422532:G:A p.(Arg1404Trp) NC_000023.11:124422532:G:A p.(Arg1404Trp) NC_000023.11:124422532:G:A Identity +NM_001080477.4:c.4897G>A NP_001073946.1:p.Asp1633Asn NC_000004.12:182773475:G:A p.(Asp1633Asn) NC_000004.12:182773475:G:A p.(Asp1633Asn) NC_000004.12:182773475:G:A Identity +NM_001114393.3:c.413A>C NP_001107865.1:p.Glu138Ala NC_000005.10:79623436:A:C p.(Glu138Ala) NC_000005.10:79623436:A:C p.(Glu138Ala) NC_000005.10:79623436:A:C Identity +NM_001114393.3:c.79C>T NP_001107865.1:p.Pro27Ser NC_000005.10:79619726:C:T p.(Pro27Ser) NC_000005.10:79619726:C:T p.(Pro27Ser) NC_000005.10:79619726:C:T Identity +NM_001010874.5:c.430A>G NP_001010874.2:p.Thr144Ala NC_000004.12:64322693:T:C p.(Thr144Ala) NC_000004.12:64322693:T:C p.(Thr144Ala) NC_000004.12:64322693:T:C Identity +NM_144674.2:c.262C>T NP_653275.1:p.Arg88Cys NC_000016.10:10694611:G:A p.(Arg88Cys) NC_000016.10:10694611:G:A p.(Arg88Cys) NC_000016.10:10694611:G:A Identity +NM_001163278.2:c.1103C>T NP_001156750.1:p.Thr368Ile NC_000023.11:124671747:G:A p.(Thr368Ile) NC_000023.11:124671747:G:A p.(Thr368Ile) NC_000023.11:124671747:G:A Identity +NM_015395.3:c.23C>T NP_056210.1:p.Ala8Val NC_000007.14:98246123:G:A p.(Ala8Val) NC_000007.14:98246123:G:A p.(Ala8Val) NC_000007.14:98246123:G:A Identity +NM_058222.3:c.8C>T NP_478129.1:p.Thr3Met NC_000010.11:112283741:C:T p.(Thr3Met) NC_000010.11:112283741:C:T p.(Thr3Met) NC_000010.11:112283741:C:T Identity +NM_001144030.2:c.1663G>A NP_001137502.2:p.Val555Ile NC_000011.10:34134553:G:A p.(Val555Ile) NC_000011.10:34134553:G:A p.(Val555Ile) NC_000011.10:34134553:G:A Identity +NM_015641.4:c.748A>G NP_056456.1:p.Ile250Val NC_000007.14:116251804:A:G p.(Ile250Val) NC_000007.14:116251804:A:G p.(Ile250Val) NC_000007.14:116251804:A:G Identity +NM_001291277.2:c.1108A>G NP_001278206.1:p.Arg370Gly NC_000023.11:105219085:T:C p.(Arg370Gly) NC_000023.11:105219085:T:C p.(Arg370Gly) NC_000023.11:105219085:T:C Identity +NM_001114393.3:c.410G>A NP_001107865.1:p.Arg137Gln NC_000005.10:79623433:G:A p.(Arg137Gln) NC_000005.10:79623433:G:A p.(Arg137Gln) NC_000005.10:79623433:G:A Identity +NM_001040284.3:c.427A>G NP_001035374.2:p.Ser143Gly NC_000016.10:50154092:A:G p.(Ser143Gly) NC_000016.10:50154092:A:G p.(Ser143Gly) NC_000016.10:50154092:A:G Identity +NM_001080428.3:c.5047G>A NP_001073897.2:p.Val1683Met NC_000005.10:168244662:G:A p.(Val1683Met) NC_000005.10:168244662:G:A p.(Val1683Met) NC_000005.10:168244662:G:A Identity +NM_001350162.2:c.4075A>T NP_001337091.1:p.Ser1359Cys NC_000008.11:30846091:T:A p.(Ser1359Cys) NC_000008.11:30846091:T:A p.(Ser1359Cys) NC_000008.11:30846091:T:A Identity +NM_152325.3:c.149A>G NP_689538.1:p.Gln50Arg NC_000013.11:30952661:A:G p.(Gln50Arg) NC_000013.11:30952661:A:G p.(Gln50Arg) NC_000013.11:30952661:A:G Identity +NM_178548.4:c.445G>T NP_848643.2:p.Gly149Cys NC_000001.11:35574343:G:T p.(Gly149Cys) NC_000001.11:35574343:G:T p.(Gly149Cys) NC_000001.11:35574343:G:T Identity +NM_001319035.2:c.1640A>G NP_001305964.1:p.Tyr547Cys NC_000014.9:20391731:T:C p.(Tyr547Cys) NC_000014.9:20391731:T:C p.(Tyr547Cys) NC_000014.9:20391731:T:C Identity +NM_001320800.2:c.1109G>A NP_001307729.1:p.Arg370Gln NC_000001.11:45345197:C:T p.(Arg370Gln) NC_000001.11:45345197:C:T p.(Arg370Gln) NC_000001.11:45345197:C:T Identity +NM_001320800.2:c.211G>C NP_001307729.1:p.Val71Leu NC_000001.11:45355382:C:G p.(Val71Leu) NC_000001.11:45355382:C:G p.(Val71Leu) NC_000001.11:45355382:C:G Identity +NM_001319035.2:c.3388A>G NP_001305964.1:p.Ser1130Gly NC_000014.9:20383642:T:C p.(Ser1130Gly) NC_000014.9:20383642:T:C p.(Ser1130Gly) NC_000014.9:20383642:T:C Identity +NM_003235.5:c.8120G>A NP_003226.4:p.Arg2707Gln NC_000008.11:133133591:G:A p.(Arg2707Gln) NC_000008.11:133133591:G:A p.(Arg2707Gln) NC_000008.11:133133591:G:A Identity +NM_138960.4:c.536C>T NP_620410.3:p.Pro179Leu NC_000023.11:89922620:C:T p.(Pro179Leu) NC_000023.11:89922620:C:T p.(Pro179Leu) NC_000023.11:89922620:C:T Identity +NM_138960.4:c.54C>G NP_620410.3:p.Asp18Glu NC_000023.11:89922138:C:G p.(Asp18Glu) NC_000023.11:89922138:C:G p.(Asp18Glu) NC_000023.11:89922138:C:G Identity +NM_001206855.3:c.679C>T NP_001193784.1:p.Arg227Trp NC_000007.14:100630966:G:A p.(Arg227Trp) NC_000007.14:100630966:G:A p.(Arg227Trp) NC_000007.14:100630966:G:A Identity +NM_003235.5:c.2935C>T NP_003226.4:p.Arg979Trp NC_000008.11:132893862:C:T p.(Arg979Trp) NC_000008.11:132893862:C:T p.(Arg979Trp) NC_000008.11:132893862:C:T Identity +NM_001369694.1:c.857T>C NP_001356623.1:p.Ile286Thr NC_000007.14:101172331:A:G p.(Ile286Thr) NC_000007.14:101172331:A:G p.(Ile286Thr) NC_000007.14:101172331:A:G Identity +NM_001173452.2:c.1292A>G NP_001166923.1:p.Tyr431Cys NC_000012.12:51098902:T:C p.(Tyr431Cys) NC_000012.12:51098902:T:C p.(Tyr431Cys) NC_000012.12:51098902:T:C Identity +NM_031435.4:c.241G>T NP_113623.1:p.Asp81Tyr NC_000012.12:71674371:G:T p.(Asp81Tyr) NC_000012.12:71674371:G:T p.(Asp81Tyr) NC_000012.12:71674371:G:T Identity +NM_001195752.2:c.452C>T NP_001182681.1:p.Pro151Leu NC_000001.11:6632811:C:T p.(Pro151Leu) NC_000001.11:6632811:C:T p.(Pro151Leu) NC_000001.11:6632811:C:T Identity +NM_001195259.2:c.194T>C NP_001182188.1:p.Leu65Pro NC_000019.10:7916460:T:C p.(Leu65Pro) NC_000019.10:7916460:T:C p.(Leu65Pro) NC_000019.10:7916460:T:C Identity +NM_001323316.2:c.985G>A NP_001310245.1:p.Glu329Lys NC_000020.11:38142073:C:T p.(Glu329Lys) NC_000020.11:38142073:C:T p.(Glu329Lys) NC_000020.11:38142073:C:T Identity +NM_001111018.2:c.1661C>A NP_001104488.1:p.Ser554Tyr NC_000011.10:19934096:C:A p.(Ser554Tyr) NC_000011.10:19934096:C:A p.(Ser554Tyr) NC_000011.10:19934096:C:A Identity +NM_001252607.2:c.1691A>G NP_001239536.1:p.Asn564Ser NC_000001.11:155200103:T:C p.(Asn564Ser) NC_000001.11:155200103:T:C p.(Asn564Ser) NC_000001.11:155200103:T:C Identity +NM_001252607.2:c.940G>A NP_001239536.1:p.Ala314Thr NC_000001.11:155202391:C:T p.(Ala314Thr) NC_000001.11:155202391:C:T p.(Ala314Thr) NC_000001.11:155202391:C:T Identity +NM_001142350.3:c.189G>C NP_001135822.1:p.Glu63Asp NC_000016.10:3025956:G:C p.(Glu63Asp) NC_000016.10:3025956:G:C p.(Glu63Asp) NC_000016.10:3025956:G:C Identity +NM_003249.5:c.1838T>C NP_003240.1:p.Leu613Pro NC_000019.10:2811663:T:C p.(Leu613Pro) NC_000019.10:2811663:T:C p.(Leu613Pro) NC_000019.10:2811663:T:C Identity +NM_001288732.2:c.3218A>C NP_001275661.1:p.His1073Pro NC_000017.11:64150883:T:G p.(His1073Pro) NC_000017.11:64150883:T:G p.(His1073Pro) NC_000017.11:64150883:T:G Identity +NM_001128202.3:c.181A>G NP_001121674.1:p.Lys61Glu NC_000010.11:125661847:T:C p.(Lys61Glu) NC_000010.11:125661847:T:C p.(Lys61Glu) NC_000010.11:125661847:T:C Identity +NM_015204.3:c.1694C>T NP_056019.1:p.Ala565Val NC_000007.14:11541546:G:A p.(Ala565Val) NC_000007.14:11541546:G:A p.(Ala565Val) NC_000007.14:11541546:G:A Identity +NM_015204.3:c.1924A>C NP_056019.1:p.Thr642Pro NC_000007.14:11481880:T:G p.(Thr642Pro) NC_000007.14:11481880:T:G p.(Thr642Pro) NC_000007.14:11481880:T:G Identity +NM_001167738.2:c.2969G>A NP_001161210.1:p.Arg990His NC_000001.11:201808814:G:A p.(Arg990His) NC_000001.11:201808814:G:A p.(Arg990His) NC_000001.11:201808814:G:A Identity +NM_001317791.2:c.143A>G NP_001304720.1:p.Asn48Ser NC_000004.12:75516833:A:G p.(Asn48Ser) NC_000004.12:75516833:A:G p.(Asn48Ser) NC_000004.12:75516833:A:G Identity +NM_001308025.1:c.4042G>A NP_001294954.1:p.Val1348Ile NC_000015.10:89624354:G:A p.(Val1348Ile) NC_000015.10:89624354:G:A p.(Val1348Ile) NC_000015.10:89624354:G:A Identity +NM_005423.5:c.40G>A NP_005414.1:p.Val14Ile NC_000021.9:42350917:C:T p.(Val14Ile) NC_000021.9:42350917:C:T p.(Val14Ile) NC_000021.9:42350917:C:T Identity +NM_001206855.3:c.1147A>G NP_001193784.1:p.Asn383Asp NC_000007.14:100627765:T:C p.(Asn383Asp) NC_000007.14:100627765:T:C p.(Asn383Asp) NC_000007.14:100627765:T:C Identity +NM_000359.3:c.161G>A NP_000350.1:p.Arg54Gln NC_000014.9:24262191:C:T p.(Arg54Gln) NC_000014.9:24262191:C:T p.(Arg54Gln) NC_000014.9:24262191:C:T Identity +NM_001308025.1:c.1363A>G NP_001294954.1:p.Ile455Val NC_000015.10:89585896:A:G p.(Ile455Val) NC_000015.10:89585896:A:G p.(Ile455Val) NC_000015.10:89585896:A:G Identity +NM_001308025.1:c.904A>G NP_001294954.1:p.Met302Val NC_000015.10:89582934:A:G p.(Met302Val) NC_000015.10:89582934:A:G p.(Met302Val) NC_000015.10:89582934:A:G Identity +NM_001111018.2:c.2837G>A NP_001104488.1:p.Arg946Gln NC_000011.10:20044101:G:A p.(Arg946Gln) NC_000011.10:20044101:G:A p.(Arg946Gln) NC_000011.10:20044101:G:A Identity +NM_001394532.1:c.439G>T NP_001381461.1:p.Gly147Cys NC_000015.10:71215373:G:T p.(Gly147Cys) NC_000015.10:71215373:G:T p.(Gly147Cys) NC_000015.10:71215373:G:T Identity +NM_032862.5:c.1319G>T NP_116251.4:p.Cys440Phe NC_000008.11:143599221:G:T p.(Cys440Phe) NC_000008.11:143599221:G:T p.(Cys440Phe) NC_000008.11:143599221:G:T Identity +NM_032862.5:c.1336C>G NP_116251.4:p.Leu446Val NC_000008.11:143599238:C:G p.(Leu446Val) NC_000008.11:143599238:C:G p.(Leu446Val) NC_000008.11:143599238:C:G Identity +NM_001243253.2:c.770C>G NP_001230182.1:p.Thr257Arg NC_000005.10:149995578:G:C p.(Thr257Arg) NC_000005.10:149995578:G:C p.(Thr257Arg) NC_000005.10:149995578:G:C Identity +NM_001167947.2:c.284G>A NP_001161419.1:p.Arg95Gln NC_000023.11:48895093:C:T p.(Arg95Gln) NC_000023.11:48895093:C:T p.(Arg95Gln) NC_000023.11:48895093:C:T Identity +NM_015963.6:c.722C>T NP_057047.4:p.Ser241Phe NC_000002.12:241633434:G:A p.(Ser241Phe) NC_000002.12:241633434:G:A p.(Ser241Phe) NC_000002.12:241633434:G:A Identity +NM_001381939.1:c.423C>G NP_001368868.1:p.Asp141Glu NC_000006.12:169248602:G:C p.(Asp141Glu) NC_000006.12:169248602:G:C p.(Asp141Glu) NC_000006.12:169248602:G:C Identity +NM_001253357.2:c.2276G>A NP_001240286.1:p.Gly759Asp NC_000001.11:43317199:G:A p.(Gly759Asp) NC_000001.11:43317199:G:A p.(Gly759Asp) NC_000001.11:43317199:G:A Identity +NM_001253357.2:c.139G>A NP_001240286.1:p.Gly47Ser NC_000001.11:43305065:G:A p.(Gly47Ser) NC_000001.11:43305065:G:A p.(Gly47Ser) NC_000001.11:43305065:G:A Identity +NM_020375.3:c.751A>G NP_065108.1:p.Thr251Ala NC_000012.12:4352628:A:G p.(Thr251Ala) NC_000012.12:4352628:A:G p.(Thr251Ala) NC_000012.12:4352628:A:G Identity +NM_032862.5:c.683A>C NP_116251.4:p.Glu228Ala NC_000008.11:143598585:A:C p.(Glu228Ala) NC_000008.11:143598585:A:C p.(Glu228Ala) NC_000008.11:143598585:A:C Identity +NM_173799.4:c.442G>A NP_776160.2:p.Ala148Thr NC_000003.12:114299646:G:A p.(Ala148Thr) NC_000003.12:114299646:G:A p.(Ala148Thr) NC_000003.12:114299646:G:A Identity +NM_016589.4:c.787G>A NP_057673.2:p.Ala263Thr NC_000003.12:119523684:G:A p.(Ala263Thr) NC_000003.12:119523684:G:A p.(Ala263Thr) NC_000003.12:119523684:G:A Identity +NM_001039661.2:c.48G>T NP_001034750.1:p.Lys16Asn NC_000011.10:126290941:G:T p.(Lys16Asn) NC_000011.10:126290941:G:T p.(Lys16Asn) NC_000011.10:126290941:G:T Identity +NM_001033925.2:c.842C>T NP_001029097.1:p.Thr281Met NC_000010.11:119577149:G:A p.(Thr281Met) NC_000010.11:119577149:G:A p.(Thr281Met) NC_000010.11:119577149:G:A Identity +NM_001353686.2:c.2006G>A NP_001340615.1:p.Arg669His NC_000021.9:31217688:C:T p.(Arg669His) NC_000021.9:31217688:C:T p.(Arg669His) NC_000021.9:31217688:C:T Identity +NM_001301025.3:c.1240G>A NP_001287954.2:p.Glu414Lys NC_000015.10:29761187:C:T p.(Glu414Lys) NC_000015.10:29761187:C:T p.(Glu414Lys) NC_000015.10:29761187:C:T Identity +NM_001143986.2:c.1531C>G NP_001137458.1:p.Pro511Ala NC_000019.10:2993575:C:G p.(Pro511Ala) NC_000019.10:2993575:C:G p.(Pro511Ala) NC_000019.10:2993575:C:G Identity +NM_001143986.2:c.1628C>G NP_001137458.1:p.Ser543Cys NC_000019.10:2994912:C:G p.(Ser543Cys) NC_000019.10:2994912:C:G p.(Ser543Cys) NC_000019.10:2994912:C:G Identity +NM_001252607.2:c.2048G>A NP_001239536.1:p.Gly683Asp NC_000001.11:155198219:C:T p.(Gly683Asp) NC_000001.11:155198219:C:T p.(Gly683Asp) NC_000001.11:155198219:C:T Identity +NM_001199691.1:c.554C>T NP_001186620.1:p.Pro185Leu NC_000001.11:95230981:C:T p.(Pro185Leu) NC_000001.11:95230981:C:T p.(Pro185Leu) NC_000001.11:95230981:C:T Identity +NM_174926.3:c.278C>T NP_777586.1:p.Thr93Ile NC_000011.10:120329988:C:T p.(Thr93Ile) NC_000011.10:120329988:C:T p.(Thr93Ile) NC_000011.10:120329988:C:T Identity +NM_001144761.2:c.440C>T NP_001138233.1:p.Ala147Val NC_000019.10:3019434:G:A p.(Ala147Val) NC_000019.10:3019434:G:A p.(Ala147Val) NC_000019.10:3019434:G:A Identity +NM_145719.3:c.857C>T NP_663771.1:p.Pro286Leu NC_000011.10:65356664:C:T p.(Pro286Leu) NC_000011.10:65356664:C:T p.(Pro286Leu) NC_000011.10:65356664:C:T Identity +NM_000362.5:c.187A>G NP_000353.1:p.Thr63Ala NC_000022.11:32849516:A:G p.(Thr63Ala) NC_000022.11:32849516:A:G p.(Thr63Ala) NC_000022.11:32849516:A:G Identity +NM_001024383.2:c.5876G>A NP_001019554.1:p.Arg1959His NC_000012.12:78188332:G:A p.(Arg1959His) NC_000012.12:78188332:G:A p.(Arg1959His) NC_000012.12:78188332:G:A Identity +NM_022566.3:c.380C>T NP_072088.1:p.Ala127Val NC_000015.10:81002650:C:T p.(Ala127Val) NC_000015.10:81002650:C:T p.(Ala127Val) NC_000015.10:81002650:C:T Identity +NM_003265.3:c.1942G>C NP_003256.1:p.Asp648His NC_000004.12:186083627:G:C p.(Asp648His) NC_000004.12:186083627:G:C p.(Asp648His) NC_000004.12:186083627:G:C Identity +NM_001316349.2:c.1175G>A NP_001303278.1:p.Gly392Glu NC_000002.12:137095096:G:A p.(Gly392Glu) NC_000002.12:137095096:G:A p.(Gly392Glu) NC_000002.12:137095096:G:A Identity +NM_015909.4:c.706C>G NP_056993.2:p.Pro236Ala NC_000002.12:15534582:G:C p.(Pro236Ala) NC_000002.12:15534582:G:C p.(Pro236Ala) NC_000002.12:15534582:G:C Identity +NM_001160364.2:c.241C>T NP_001153836.1:p.Leu81Phe NC_000016.10:19021738:C:T p.(Leu81Phe) NC_000016.10:19021738:C:T p.(Leu81Phe) NC_000016.10:19021738:C:T Identity +NM_145720.4:c.1114G>T NP_663772.1:p.Val372Phe NC_000004.12:152769890:C:A p.(Val372Phe) NC_000004.12:152769890:C:A p.(Val372Phe) NC_000004.12:152769890:C:A Identity +NM_001351976.2:c.452G>A NP_001338905.1:p.Arg151Gln NC_000011.10:61339400:G:A p.(Arg151Gln) NC_000011.10:61339400:G:A p.(Arg151Gln) NC_000011.10:61339400:G:A Identity +NM_032136.5:c.1037C>A NP_115512.3:p.Thr346Lys NC_000004.12:163472697:G:T p.(Thr346Lys) NC_000004.12:163472697:G:T p.(Thr346Lys) NC_000004.12:163472697:G:T Identity +NM_001318006.2:c.427C>T NP_001304935.1:p.Leu143Phe NC_000017.11:741318:C:T p.(Leu143Phe) NC_000017.11:741318:C:T p.(Leu143Phe) NC_000017.11:741318:C:T Identity +NM_012464.5:c.1918C>G NP_036596.3:p.Pro640Ala NC_000004.12:166060098:C:G p.(Pro640Ala) NC_000004.12:166060098:C:G p.(Pro640Ala) NC_000004.12:166060098:C:G Identity +NM_001379245.1:c.3686C>T NP_001366174.1:p.Thr1229Ile NC_000013.11:35159856:C:T p.(Thr1229Ile) NC_000013.11:35159856:C:T p.(Thr1229Ile) NC_000013.11:35159856:C:T Identity +NM_001017395.5:c.582A>C NP_001017395.2:p.Glu194Asp NC_000003.12:129671258:T:G p.(Glu194Asp) NC_000003.12:129671258:T:G p.(Glu194Asp) NC_000003.12:129671258:T:G Identity +NM_001242925.2:c.694C>T NP_001229854.1:p.Arg232Cys NC_000001.11:205269129:C:T p.(Arg232Cys) NC_000001.11:205269129:C:T p.(Arg232Cys) NC_000001.11:205269129:C:T Identity +NM_001349112.3:c.1879C>G NP_001336041.1:p.Gln627Glu NC_000001.11:19683065:G:C p.(Gln627Glu) NC_000001.11:19683065:G:C p.(Gln627Glu) NC_000001.11:19683065:G:C Identity +NM_001301203.3:c.103G>C NP_001288132.1:p.Asp35His NC_000015.10:79311351:G:C p.(Asp35His) NC_000015.10:79311351:G:C p.(Asp35His) NC_000015.10:79311351:G:C Identity +NM_031890.4:c.463G>T NP_114096.1:p.Gly155Trp NC_000022.11:17120664:C:A p.(Gly155Trp) NC_000022.11:17120664:C:A p.(Gly155Trp) NC_000022.11:17120664:C:A Identity +NM_001351976.2:c.377G>A NP_001338905.1:p.Arg126Gln NC_000011.10:61339325:G:A p.(Arg126Gln) NC_000011.10:61339325:G:A p.(Arg126Gln) NC_000011.10:61339325:G:A Identity +NM_012465.4:c.2630A>G NP_036597.1:p.Gln877Arg NC_000010.11:96373627:T:C p.(Gln877Arg) NC_000010.11:96373627:T:C p.(Gln877Arg) NC_000010.11:96373627:T:C Identity +NM_001394553.1:c.10G>A NP_001381482.1:p.Asp4Asn NC_000004.12:38829463:C:T p.(Asp4Asn) NC_000004.12:38829463:C:T p.(Asp4Asn) NC_000004.12:38829463:C:T Identity +NM_001301203.3:c.416A>G NP_001288132.1:p.Gln139Arg NC_000015.10:79314003:A:G p.(Gln139Arg) NC_000015.10:79314003:A:G p.(Gln139Arg) NC_000015.10:79314003:A:G Identity +NM_001286212.2:c.1052C>T NP_001273141.1:p.Ala351Val NC_000012.12:44388490:C:T p.(Ala351Val) NC_000012.12:44388490:C:T p.(Ala351Val) NC_000012.12:44388490:C:T Identity +NM_001163079.2:c.602A>G NP_001156551.1:p.His201Arg NC_000022.11:17119460:T:C p.(His201Arg) NC_000022.11:17119460:T:C p.(His201Arg) NC_000022.11:17119460:T:C Identity +NM_015348.2:c.1208A>G NP_056163.1:p.Gln403Arg NC_000002.12:97815282:T:C p.(Gln403Arg) NC_000002.12:97815282:T:C p.(Gln403Arg) NC_000002.12:97815282:T:C Identity +NM_015348.2:c.2474C>T NP_056163.1:p.Ser825Phe NC_000002.12:97802718:G:A p.(Ser825Phe) NC_000002.12:97802718:G:A p.(Ser825Phe) NC_000002.12:97802718:G:A Identity +NM_001114132.2:c.3712G>A NP_001107604.1:p.Ala1238Thr NC_000002.12:203133131:G:A p.(Ala1238Thr) NC_000002.12:203133131:G:A p.(Ala1238Thr) NC_000002.12:203133131:G:A Identity +NM_001131007.2:c.356G>A NP_001124479.1:p.Ser119Asn NC_000004.12:153555833:G:A p.(Ser119Asn) NC_000004.12:153555833:G:A p.(Ser119Asn) NC_000004.12:153555833:G:A Identity +NM_001131007.2:c.4000G>A NP_001124479.1:p.Gly1334Arg NC_000004.12:153623037:G:A p.(Gly1334Arg) NC_000004.12:153623037:G:A p.(Gly1334Arg) NC_000004.12:153623037:G:A Identity +NM_001136103.3:c.2672A>T NP_001129575.2:p.Asp891Val NC_000012.12:128705639:A:T p.(Asp891Val) NC_000012.12:128705639:A:T p.(Asp891Val) NC_000012.12:128705639:A:T Identity +NM_003268.6:c.29G>A NP_003259.2:p.Gly10Glu NC_000001.11:223113002:C:T p.(Gly10Glu) NC_000001.11:223113002:C:T p.(Gly10Glu) NC_000001.11:223113002:C:T Identity +NM_001160364.2:c.1598T>C NP_001153836.1:p.Val533Ala NC_000016.10:19056597:T:C p.(Val533Ala) NC_000016.10:19056597:T:C p.(Val533Ala) NC_000016.10:19056597:T:C Identity +NM_001131007.2:c.4493C>T NP_001124479.1:p.Ser1498Phe NC_000004.12:153635506:C:T p.(Ser1498Phe) NC_000004.12:153635506:C:T p.(Ser1498Phe) NC_000004.12:153635506:C:T Identity +NM_017870.4:c.2818G>C NP_060340.2:p.Gly940Arg NC_000011.10:60936649:G:C p.(Gly940Arg) NC_000011.10:60936649:G:C p.(Gly940Arg) NC_000011.10:60936649:G:C Identity +NM_001136103.3:c.2269G>A NP_001129575.2:p.Val757Ile NC_000012.12:128705236:G:A p.(Val757Ile) NC_000012.12:128705236:G:A p.(Val757Ile) NC_000012.12:128705236:G:A Identity +NM_001114132.2:c.5927A>G NP_001107604.1:p.Tyr1976Cys NC_000002.12:203169762:A:G p.(Tyr1976Cys) NC_000002.12:203169762:A:G p.(Tyr1976Cys) NC_000002.12:203169762:A:G Identity +NM_014051.4:c.196A>G NP_054770.1:p.Ile66Val NC_000006.12:52684100:A:G p.(Ile66Val) NC_000006.12:52684100:A:G p.(Ile66Val) NC_000006.12:52684100:A:G Identity +NM_014051.4:c.37A>T NP_054770.1:p.Thr13Ser NC_000006.12:52677138:A:T p.(Thr13Ser) NC_000006.12:52677138:A:T p.(Thr13Ser) NC_000006.12:52677138:A:T Identity +NM_001143841.2:c.471C>G NP_001137313.1:p.Ser157Arg NC_000012.12:47966147:C:G p.(Ser157Arg) NC_000012.12:47966147:C:G p.(Ser157Arg) NC_000012.12:47966147:C:G Identity +NM_001031738.3:c.757G>A NP_001026908.1:p.Gly253Arg NC_000002.12:85599134:C:T p.(Gly253Arg) NC_000002.12:85599134:C:T p.(Gly253Arg) NC_000002.12:85599134:C:T Identity +NM_001031738.3:c.86A>G NP_001026908.1:p.Asn29Ser NC_000002.12:85601461:T:C p.(Asn29Ser) NC_000002.12:85601461:T:C p.(Asn29Ser) NC_000002.12:85601461:T:C Identity +NM_001348541.2:c.602T>C NP_001335470.1:p.Leu201Pro NC_000014.9:67473453:A:G p.(Leu201Pro) NC_000014.9:67473453:A:G p.(Leu201Pro) NC_000014.9:67473453:A:G Identity +NM_001039763.4:c.865C>G NP_001034852.3:p.Leu289Val NC_000005.10:110618465:G:C p.(Leu289Val) NC_000005.10:110618465:G:C p.(Leu289Val) NC_000005.10:110618465:G:C Identity +NM_001080825.2:c.859G>T NP_001074294.2:p.Val287Phe NC_000012.12:121775082:G:T p.(Val287Phe) NC_000012.12:121775082:G:T p.(Val287Phe) NC_000012.12:121775082:G:T Identity +NM_001131007.2:c.1816A>C NP_001124479.1:p.Lys606Gln NC_000004.12:153592477:A:C p.(Lys606Gln) NC_000004.12:153592477:A:C p.(Lys606Gln) NC_000004.12:153592477:A:C Identity +NM_017870.4:c.2834C>T NP_060340.2:p.Thr945Ile NC_000011.10:60936665:C:T p.(Thr945Ile) NC_000011.10:60936665:C:T p.(Thr945Ile) NC_000011.10:60936665:C:T Identity +NM_001136103.3:c.3290T>A NP_001129575.2:p.Leu1097His NC_000012.12:128706257:T:A p.(Leu1097His) NC_000012.12:128706257:T:A p.(Leu1097His) NC_000012.12:128706257:T:A Identity +NM_001136103.3:c.841G>A NP_001129575.2:p.Ala281Thr NC_000012.12:128415486:G:A p.(Ala281Thr) NC_000012.12:128415486:G:A p.(Ala281Thr) NC_000012.12:128415486:G:A Identity +NM_001114132.2:c.633T>G NP_001107604.1:p.Ser211Arg NC_000002.12:203077785:T:G p.(Ser211Arg) NC_000002.12:203077785:T:G p.(Ser211Arg) NC_000002.12:203077785:T:G Identity +NM_152335.5:c.1042G>A NP_689548.3:p.Ala348Thr NC_000015.10:76203784:G:A p.(Ala348Thr) NC_000015.10:76203784:G:A p.(Ala348Thr) NC_000015.10:76203784:G:A Identity +NM_182504.4:c.118A>T NP_872310.2:p.Ile40Phe NC_000007.14:73865037:A:T p.(Ile40Phe) NC_000007.14:73865037:A:T p.(Ile40Phe) NC_000007.14:73865037:A:T Identity +NM_018247.4:c.287C>T NP_060717.1:p.Ser96Phe NC_000006.12:75267698:G:A p.(Ser96Phe) NC_000006.12:75267698:G:A p.(Ser96Phe) NC_000006.12:75267698:G:A Identity +NM_018266.3:c.664G>A NP_060736.1:p.Glu222Lys NC_000003.12:119438014:C:T p.(Glu222Lys) NC_000003.12:119438014:C:T p.(Glu222Lys) NC_000003.12:119438014:C:T Identity +NM_144638.3:c.385T>C NP_653239.1:p.Trp129Arg NC_000003.12:44865084:T:C p.(Trp129Arg) NC_000003.12:44865084:T:C p.(Trp129Arg) NC_000003.12:44865084:T:C Identity +NM_001130924.3:c.1223C>T NP_001124396.2:p.Pro408Leu NC_000001.11:9607618:C:T p.(Pro408Leu) NC_000001.11:9607618:C:T p.(Pro408Leu) NC_000001.11:9607618:C:T Identity +NM_001204210.2:c.92G>C NP_001191139.1:p.Trp31Ser NC_000017.11:78232114:G:C p.(Trp31Ser) NC_000017.11:78232114:G:C p.(Trp31Ser) NC_000017.11:78232114:G:C Identity +NM_001114132.2:c.4059G>T NP_001107604.1:p.Leu1353Phe NC_000002.12:203136008:G:T p.(Leu1353Phe) NC_000002.12:203136008:G:T p.(Leu1353Phe) NC_000002.12:203136008:G:T Identity +NM_001303228.2:c.781G>A NP_001290157.1:p.Asp261Asn NC_000004.12:38986377:C:T p.(Asp261Asn) NC_000004.12:38986377:C:T p.(Asp261Asn) NC_000004.12:38986377:C:T Identity +NM_001144034.2:c.674G>A NP_001137506.1:p.Gly225Asp NC_000011.10:118533856:G:A p.(Gly225Asp) NC_000011.10:118533856:G:A p.(Gly225Asp) NC_000011.10:118533856:G:A Identity +NM_152335.5:c.1003G>A NP_689548.3:p.Gly335Ser NC_000015.10:76203745:G:A p.(Gly335Ser) NC_000015.10:76203745:G:A p.(Gly335Ser) NC_000015.10:76203745:G:A Identity +NM_001363562.2:c.46G>C NP_001350491.1:p.Val16Leu NC_000007.14:19772650:C:G p.(Val16Leu) NC_000007.14:19772650:C:G p.(Val16Leu) NC_000007.14:19772650:C:G Identity +NM_001080462.3:c.50C>T NP_001073931.1:p.Pro17Leu NC_000015.10:72398375:C:T p.(Pro17Leu) NC_000015.10:72398375:C:T p.(Pro17Leu) NC_000015.10:72398375:C:T Identity +NM_001136002.2:c.913G>A NP_001129474.1:p.Gly305Ser NC_000007.14:124032090:C:T p.(Gly305Ser) NC_000007.14:124032090:C:T p.(Gly305Ser) NC_000007.14:124032090:C:T Identity +NM_001321148.2:c.3890A>G NP_001308077.1:p.Asp1297Gly NC_000017.11:75498943:A:G p.(Asp1297Gly) NC_000017.11:75498943:A:G p.(Asp1297Gly) NC_000017.11:75498943:A:G Identity +NM_001032283.3:c.286A>G NP_001027454.1:p.Thr96Ala NC_000012.12:98527891:A:G p.(Thr96Ala) NC_000012.12:98527891:A:G p.(Thr96Ala) NC_000012.12:98527891:A:G Identity +NM_001428056.1:c.938G>A NP_001414985.1:p.Ser313Asn NC_000021.9:18359833:C:T p.(Ser313Asn) NC_000021.9:18359833:C:T p.(Ser313Asn) NC_000021.9:18359833:C:T Identity +NM_001165258.2:c.317G>T NP_001158730.1:p.Ser106Ile NC_000006.12:10730643:G:T p.(Ser106Ile) NC_000006.12:10730643:G:T p.(Ser106Ile) NC_000006.12:10730643:G:T Identity +NM_153266.4:c.475G>A NP_694998.1:p.Val159Met NC_000011.10:66294720:G:A p.(Val159Met) NC_000011.10:66294720:G:A p.(Val159Met) NC_000011.10:66294720:G:A Identity +NM_001287497.2:c.1595A>C NP_001274426.1:p.Lys532Thr NC_000007.14:112767695:T:G p.(Lys532Thr) NC_000007.14:112767695:T:G p.(Lys532Thr) NC_000007.14:112767695:T:G Identity +NM_001347004.1:c.1402G>T NP_001333933.1:p.Gly468Cys NC_000015.10:43184445:G:T p.(Gly468Cys) NC_000015.10:43184445:G:T p.(Gly468Cys) NC_000015.10:43184445:G:T Identity +NM_001033026.2:c.1364T>C NP_001028198.1:p.Leu455Pro NC_000019.10:1010848:A:G p.(Leu455Pro) NC_000019.10:1010848:A:G p.(Leu455Pro) NC_000019.10:1010848:A:G Identity +NM_001033026.2:c.1709T>C NP_001028198.1:p.Leu570Pro NC_000019.10:1010503:A:G p.(Leu570Pro) NC_000019.10:1010503:A:G p.(Leu570Pro) NC_000019.10:1010503:A:G Identity +NM_017799.4:c.542T>G NP_060269.3:p.Phe181Cys NC_000014.9:56605588:T:G p.(Phe181Cys) NC_000014.9:56605588:T:G p.(Phe181Cys) NC_000014.9:56605588:T:G Identity +NM_001165030.3:c.344T>C NP_001158502.1:p.Val115Ala NC_000011.10:9295282:A:G p.(Val115Ala) NC_000011.10:9295282:A:G p.(Val115Ala) NC_000011.10:9295282:A:G Identity +NM_001289000.2:c.2077T>C NP_001275929.1:p.Cys693Arg NC_000022.11:37069108:A:G p.(Cys693Arg) NC_000022.11:37069108:A:G p.(Cys693Arg) NC_000022.11:37069108:A:G Identity +NM_001079669.4:c.2141A>G NP_001073137.1:p.Gln714Arg NC_000013.11:100605078:T:C p.(Gln714Arg) NC_000013.11:100605078:T:C p.(Gln714Arg) NC_000013.11:100605078:T:C Identity +NM_001410991.1:c.4759C>T NP_001397920.1:p.Leu1587Phe NC_000009.12:115041027:G:A p.(Leu1587Phe) NC_000009.12:115041027:G:A p.(Leu1587Phe) NC_000009.12:115041027:G:A Identity +NM_001033504.2:c.391G>A NP_001028676.1:p.Val131Met NC_000017.11:32936424:G:A p.(Val131Met) NC_000017.11:32936424:G:A p.(Val131Met) NC_000017.11:32936424:G:A Identity +NM_144638.3:c.16G>T NP_653239.1:p.Gly6Trp NC_000003.12:44861939:G:T p.(Gly6Trp) NC_000003.12:44861939:G:T p.(Gly6Trp) NC_000003.12:44861939:G:T Identity +NM_001011655.3:c.617G>A NP_001011655.1:p.Arg206Gln NC_000003.12:194617264:C:T p.(Arg206Gln) NC_000003.12:194617264:C:T p.(Arg206Gln) NC_000003.12:194617264:C:T Identity +NM_001304748.2:c.296G>A NP_001291677.1:p.Arg99Gln NC_000020.11:1181322:C:T p.(Arg99Gln) NC_000020.11:1181322:C:T p.(Arg99Gln) NC_000020.11:1181322:C:T Identity +NM_001329914.2:c.1285C>T NP_001316843.1:p.Arg429Cys NC_000002.12:112098606:C:T p.(Arg429Cys) NC_000002.12:112098606:C:T p.(Arg429Cys) NC_000002.12:112098606:C:T Identity +NM_003790.3:c.668C>T NP_003781.1:p.Thr223Ile NC_000001.11:6462900:G:A p.(Thr223Ile) NC_000001.11:6462900:G:A p.(Thr223Ile) NC_000001.11:6462900:G:A Identity +NM_001244.4:c.85A>G NP_001235.1:p.Ser29Gly NC_000009.12:114930218:T:C p.(Ser29Gly) NC_000009.12:114930218:T:C p.(Ser29Gly) NC_000009.12:114930218:T:C Identity +NM_001066.3:c.80T>C NP_001057.1:p.Val27Ala NC_000001.11:12188796:T:C p.(Val27Ala) NC_000001.11:12188796:T:C p.(Val27Ala) NC_000001.11:12188796:T:C Identity +NM_001320321.2:c.1150T>A NP_001307250.1:p.Tyr384Asn NC_000012.12:82966933:T:A p.(Tyr384Asn) NC_000012.12:82966933:T:A p.(Tyr384Asn) NC_000012.12:82966933:T:A Identity +NM_001410991.1:c.235C>A NP_001397920.1:p.Pro79Thr NC_000009.12:115090783:G:T p.(Pro79Thr) NC_000009.12:115090783:G:T p.(Pro79Thr) NC_000009.12:115090783:G:T Identity +NM_001097620.2:c.996G>C NP_001091089.1:p.Lys332Asn NC_000007.14:1547757:C:G p.(Lys332Asn) NC_000007.14:1547757:C:G p.(Lys332Asn) NC_000007.14:1547757:C:G Identity +NM_001258276.2:c.662G>T NP_001245205.1:p.Arg221Leu NC_000006.12:130441083:G:T p.(Arg221Leu) NC_000006.12:130441083:G:T p.(Arg221Leu) NC_000006.12:130441083:G:T Identity +NM_001130924.3:c.1403A>G NP_001124396.2:p.Tyr468Cys NC_000001.11:9609848:A:G p.(Tyr468Cys) NC_000001.11:9609848:A:G p.(Tyr468Cys) NC_000001.11:9609848:A:G Identity +NM_001080495.3:c.886C>G NP_001073964.2:p.Leu296Val NC_000007.14:5388937:G:C p.(Leu296Val) NC_000007.14:5388937:G:C p.(Leu296Val) NC_000007.14:5388937:G:C Identity +NM_001330520.3:c.1957A>G NP_001317449.1:p.Thr653Ala NC_000016.10:24790598:A:G p.(Thr653Ala) NC_000016.10:24790598:A:G p.(Thr653Ala) NC_000016.10:24790598:A:G Identity +NM_001024843.2:c.1835T>C NP_001020014.1:p.Met612Thr NC_000022.11:40308637:T:C p.(Met612Thr) NC_000022.11:40308637:T:C p.(Met612Thr) NC_000022.11:40308637:T:C Identity +NM_001142640.2:c.2735A>G NP_001136112.2:p.Lys912Arg NC_000017.11:78051166:A:G p.(Lys912Arg) NC_000017.11:78051166:A:G p.(Lys912Arg) NC_000017.11:78051166:A:G Identity +NM_001416202.1:c.1478C>T NP_001403131.1:p.Thr493Ile NC_000012.12:53059118:C:T p.(Thr493Ile) NC_000012.12:53059118:C:T p.(Thr493Ile) NC_000012.12:53059118:C:T Identity +NM_001416202.1:c.3829A>C NP_001403131.1:p.Ser1277Arg NC_000012.12:53063093:A:C p.(Ser1277Arg) NC_000012.12:53063093:A:C p.(Ser1277Arg) NC_000012.12:53063093:A:C Identity +NM_022093.2:c.2986C>G NP_071376.1:p.Pro996Ala NC_000001.11:175127025:C:G p.(Pro996Ala) NC_000001.11:175127025:C:G p.(Pro996Ala) NC_000001.11:175127025:C:G Identity +NM_001364292.3:c.2635C>G NP_001351221.1:p.Pro879Ala NC_000005.10:72905371:C:G p.(Pro879Ala) NC_000005.10:72905371:C:G p.(Pro879Ala) NC_000005.10:72905371:C:G Identity +NM_001167670.3:c.179G>A NP_001161142.1:p.Arg60His NC_000020.11:2816732:G:A p.(Arg60His) NC_000020.11:2816732:G:A p.(Arg60His) NC_000020.11:2816732:G:A Identity +NM_002430.3:c.1357G>A NP_002421.3:p.Val453Met NC_000022.11:27799186:C:T p.(Val453Met) NC_000022.11:27799186:C:T p.(Val453Met) NC_000022.11:27799186:C:T Identity +NM_017799.4:c.1136C>A NP_060269.3:p.Thr379Asn NC_000014.9:56618672:C:A p.(Thr379Asn) NC_000014.9:56618672:C:A p.(Thr379Asn) NC_000014.9:56618672:C:A Identity +NM_017799.4:c.730C>T NP_060269.3:p.His244Tyr NC_000014.9:56609198:C:T p.(His244Tyr) NC_000014.9:56609198:C:T p.(His244Tyr) NC_000014.9:56609198:C:T Identity +NM_182504.4:c.434T>C NP_872310.2:p.Leu145Ser NC_000007.14:73865353:T:C p.(Leu145Ser) NC_000007.14:73865353:T:C p.(Leu145Ser) NC_000007.14:73865353:T:C Identity +NM_001243877.2:c.881G>T NP_001230806.1:p.Ser294Ile NC_000017.11:50863136:C:A p.(Ser294Ile) NC_000017.11:50863136:C:A p.(Ser294Ile) NC_000017.11:50863136:C:A Identity +NM_001308120.2:c.3815A>G NP_001295049.1:p.Glu1272Gly NC_000014.9:45043687:A:G p.(Glu1272Gly) NC_000014.9:45043687:A:G p.(Glu1272Gly) NC_000014.9:45043687:A:G Identity +NM_001162501.2:c.649G>A NP_001155973.1:p.Asp217Asn NC_000022.11:40264878:G:A p.(Asp217Asn) NC_000022.11:40264878:G:A p.(Asp217Asn) NC_000022.11:40264878:G:A Identity +NM_001308022.2:c.1649T>C NP_001294951.1:p.Met550Thr NC_000002.12:217848492:A:G p.(Met550Thr) NC_000002.12:217848492:A:G p.(Met550Thr) NC_000002.12:217848492:A:G Identity +NM_022093.2:c.791C>A NP_071376.1:p.Thr264Asn NC_000001.11:175080168:C:A p.(Thr264Asn) NC_000001.11:175080168:C:A p.(Thr264Asn) NC_000001.11:175080168:C:A Identity +NM_178545.4:c.556C>G NP_848640.1:p.Leu186Val NC_000001.11:1917955:G:C p.(Leu186Val) NC_000001.11:1917955:G:C p.(Leu186Val) NC_000001.11:1917955:G:C Identity +NM_001365276.2:c.11422C>T NP_001352205.1:p.Arg3808Trp NC_000006.12:32043856:G:A p.(Arg3808Trp) NC_000006.12:32043856:G:A p.(Arg3808Trp) NC_000006.12:32043856:G:A Identity +NM_001365276.2:c.5906C>T NP_001352205.1:p.Pro1969Leu NC_000006.12:32068703:G:A p.(Pro1969Leu) NC_000006.12:32068703:G:A p.(Pro1969Leu) NC_000006.12:32068703:G:A Identity +NM_001308120.2:c.4343T>C NP_001295049.1:p.Met1448Thr NC_000014.9:45052464:T:C p.(Met1448Thr) NC_000014.9:45052464:T:C p.(Met1448Thr) NC_000014.9:45052464:T:C Identity +NM_199280.4:c.1259G>A NP_954974.2:p.Arg420Lys NC_000002.12:29017854:G:A p.(Arg420Lys) NC_000002.12:29017854:G:A p.(Arg420Lys) NC_000002.12:29017854:G:A Identity +NM_022371.4:c.682C>T NP_071766.2:p.His228Tyr NC_000001.11:179087952:C:T p.(His228Tyr) NC_000001.11:179087952:C:T p.(His228Tyr) NC_000001.11:179087952:C:T Identity +NM_017723.3:c.1036G>A NP_060193.2:p.Ala346Thr NC_000009.12:137279724:G:A p.(Ala346Thr) NC_000009.12:137279724:G:A p.(Ala346Thr) NC_000009.12:137279724:G:A Identity +NM_139075.4:c.1246G>A NP_620714.2:p.Glu416Lys NC_000011.10:69078496:G:A p.(Glu416Lys) NC_000011.10:69078496:G:A p.(Glu416Lys) NC_000011.10:69078496:G:A Identity +NM_001067.4:c.2378G>A NP_001058.2:p.Arg793Lys NC_000017.11:40402959:C:T p.(Arg793Lys) NC_000017.11:40402959:C:T p.(Arg793Lys) NC_000017.11:40402959:C:T Identity +NM_001321148.2:c.329C>T NP_001308077.1:p.Ser110Leu NC_000017.11:75486315:C:T p.(Ser110Leu) NC_000017.11:75486315:C:T p.(Ser110Leu) NC_000017.11:75486315:C:T Identity +NM_001363879.1:c.2372C>T NP_001350808.1:p.Ser791Leu NC_000003.12:69033585:G:A p.(Ser791Leu) NC_000003.12:69033585:G:A p.(Ser791Leu) NC_000003.12:69033585:G:A Identity +NM_001077263.3:c.974G>A NP_001070731.1:p.Arg325Gln NC_000011.10:117909940:C:T p.(Arg325Gln) NC_000011.10:117909940:C:T p.(Arg325Gln) NC_000011.10:117909940:C:T Identity +NM_001428056.1:c.1327A>G NP_001414985.1:p.Thr443Ala NC_000021.9:18344039:T:C p.(Thr443Ala) NC_000021.9:18344039:T:C p.(Thr443Ala) NC_000021.9:18344039:T:C Identity +NM_001365276.2:c.10759G>A NP_001352205.1:p.Val3587Met NC_000006.12:32045173:C:T p.(Val3587Met) NC_000006.12:32045173:C:T p.(Val3587Met) NC_000006.12:32045173:C:T Identity +NM_001365276.2:c.12611A>G NP_001352205.1:p.Tyr4204Cys NC_000006.12:32041792:T:C p.(Tyr4204Cys) NC_000006.12:32041792:T:C p.(Tyr4204Cys) NC_000006.12:32041792:T:C Identity +NM_001365276.2:c.2891G>A NP_001352205.1:p.Gly964Glu NC_000006.12:32086006:C:T p.(Gly964Glu) NC_000006.12:32086006:C:T p.(Gly964Glu) NC_000006.12:32086006:C:T Identity +NM_025077.4:c.916T>C NP_079353.3:p.Tyr306His NC_000001.11:45343084:T:C p.(Tyr306His) NC_000001.11:45343084:T:C p.(Tyr306His) NC_000001.11:45343084:T:C Identity +NM_001372065.1:c.2230A>G NP_001358994.1:p.Ile744Val NC_000011.10:134185341:T:C p.(Ile744Val) NC_000011.10:134185341:T:C p.(Ile744Val) NC_000011.10:134185341:T:C Identity +NM_001308120.2:c.3806A>C NP_001295049.1:p.Glu1269Ala NC_000014.9:45032369:A:C p.(Glu1269Ala) NC_000014.9:45032369:A:C p.(Glu1269Ala) NC_000014.9:45032369:A:C Identity +NM_000547.6:c.2675C>A NP_000538.3:p.Pro892His NC_000002.12:1540649:C:A p.(Pro892His) NC_000002.12:1540649:C:A p.(Pro892His) NC_000002.12:1540649:C:A Identity +NM_001141979.3:c.1121C>G NP_001135451.1:p.Ala374Gly NC_000015.10:43474731:G:C p.(Ala374Gly) NC_000015.10:43474731:G:C p.(Ala374Gly) NC_000015.10:43474731:G:C Identity +NM_139075.4:c.1391G>A NP_620714.2:p.Arg464His NC_000011.10:69078773:G:A p.(Arg464His) NC_000011.10:69078773:G:A p.(Arg464His) NC_000011.10:69078773:G:A Identity +NM_013432.5:c.3769G>A NP_038460.4:p.Ala1257Thr NC_000008.11:144431117:C:T p.(Ala1257Thr) NC_000008.11:144431117:C:T p.(Ala1257Thr) NC_000008.11:144431117:C:T Identity +NM_001141979.3:c.3631C>T NP_001135451.1:p.Pro1211Ser NC_000015.10:43432237:G:A p.(Pro1211Ser) NC_000015.10:43432237:G:A p.(Pro1211Ser) NC_000015.10:43432237:G:A Identity +NM_001410991.1:c.5631C>A NP_001397920.1:p.Asp1877Glu NC_000009.12:115026687:G:T p.(Asp1877Glu) NC_000009.12:115026687:G:T p.(Asp1877Glu) NC_000009.12:115026687:G:T Identity +NM_001080495.3:c.6380C>T NP_001073964.2:p.Ser2127Leu NC_000007.14:5324275:G:A p.(Ser2127Leu) NC_000007.14:5324275:G:A p.(Ser2127Leu) NC_000007.14:5324275:G:A Identity +NM_001162501.2:c.2082C>A NP_001155973.1:p.Asn694Lys NC_000022.11:40266311:C:A p.(Asn694Lys) NC_000022.11:40266311:C:A p.(Asn694Lys) NC_000022.11:40266311:C:A Identity +NM_001024843.2:c.722C>T NP_001020014.1:p.Pro241Leu NC_000022.11:40270277:C:T p.(Pro241Leu) NC_000022.11:40270277:C:T p.(Pro241Leu) NC_000022.11:40270277:C:T Identity +NM_001142640.2:c.1054G>A NP_001136112.2:p.Gly352Arg NC_000017.11:78049485:G:A p.(Gly352Arg) NC_000017.11:78049485:G:A p.(Gly352Arg) NC_000017.11:78049485:G:A Identity +NM_001365276.2:c.11512A>G NP_001352205.1:p.Thr3838Ala NC_000006.12:32043766:T:C p.(Thr3838Ala) NC_000006.12:32043766:T:C p.(Thr3838Ala) NC_000006.12:32043766:T:C Identity +NM_013432.5:c.3267G>T NP_038460.4:p.Glu1089Asp NC_000008.11:144434097:C:A p.(Glu1089Asp) NC_000008.11:144434097:C:A p.(Glu1089Asp) NC_000008.11:144434097:C:A Identity +NM_001145030.2:c.2929A>G NP_001138502.1:p.Ile977Val NC_000003.12:44256251:A:G p.(Ile977Val) NC_000003.12:44256251:A:G p.(Ile977Val) NC_000003.12:44256251:A:G Identity +NM_001145030.2:c.646C>A NP_001138502.1:p.Pro216Thr NC_000003.12:44243151:C:A p.(Pro216Thr) NC_000003.12:44243151:C:A p.(Pro216Thr) NC_000003.12:44243151:C:A Identity +NM_001363889.2:c.2563A>C NP_001350818.1:p.Ser855Arg NC_000003.12:133628675:T:G p.(Ser855Arg) NC_000003.12:133628675:T:G p.(Ser855Arg) NC_000003.12:133628675:T:G Identity +NM_001363889.2:c.2606C>T NP_001350818.1:p.Ala869Val NC_000003.12:133628632:G:A p.(Ala869Val) NC_000003.12:133628632:G:A p.(Ala869Val) NC_000003.12:133628632:G:A Identity +NM_001143819.3:c.1730C>A NP_001137291.1:p.Ser577Tyr NC_000012.12:113285948:C:A p.(Ser577Tyr) NC_000012.12:113285948:C:A p.(Ser577Tyr) NC_000012.12:113285948:C:A Identity +NM_001243892.2:c.31C>T NP_001230821.1:p.Arg11Trp NC_000020.11:63869375:C:T p.(Arg11Trp) NC_000020.11:63869375:C:T p.(Arg11Trp) NC_000020.11:63869375:C:T Identity +NM_012467.4:c.697G>A NP_036599.4:p.Ala233Thr NC_000016.10:1222056:C:T p.(Ala233Thr) NC_000016.10:1222056:C:T p.(Ala233Thr) NC_000016.10:1222056:C:T Identity +NM_003292.3:c.6430C>T NP_003283.2:p.His2144Tyr NC_000001.11:186322348:G:A p.(His2144Tyr) NC_000001.11:186322348:G:A p.(His2144Tyr) NC_000001.11:186322348:G:A Identity +NM_001128228.3:c.1552A>T NP_001121700.2:p.Ser518Cys NC_000009.12:137199159:T:A p.(Ser518Cys) NC_000009.12:137199159:T:A p.(Ser518Cys) NC_000009.12:137199159:T:A Identity +NM_003294.4:c.272G>A NP_003285.2:p.Arg91Gln NC_000016.10:1241471:G:A p.(Arg91Gln) NC_000016.10:1241471:G:A p.(Arg91Gln) NC_000016.10:1241471:G:A Identity +NM_001395978.1:c.224C>T NP_001382907.1:p.Ala75Val NC_000013.11:19475578:G:A p.(Ala75Val) NC_000013.11:19475578:G:A p.(Ala75Val) NC_000013.11:19475578:G:A Identity +NM_012467.4:c.575G>T NP_036599.4:p.Cys192Phe NC_000016.10:1222277:C:A p.(Cys192Phe) NC_000016.10:1222277:C:A p.(Cys192Phe) NC_000016.10:1222277:C:A Identity +NM_021138.4:c.155G>A NP_066961.2:p.Arg52Gln NC_000009.12:136898894:G:A p.(Arg52Gln) NC_000009.12:136898894:G:A p.(Arg52Gln) NC_000009.12:136898894:G:A Identity +NM_004620.4:c.520A>G NP_004611.1:p.Ile174Val NC_000011.10:36497193:T:C p.(Ile174Val) NC_000011.10:36497193:T:C p.(Ile174Val) NC_000011.10:36497193:T:C Identity +NM_015049.3:c.1782A>C NP_055864.2:p.Lys594Asn NC_000002.12:201386398:T:G p.(Lys594Asn) NC_000002.12:201386398:T:G p.(Lys594Asn) NC_000002.12:201386398:T:G Identity +NM_001317804.2:c.601C>A NP_001304733.1:p.Leu201Ile NC_000008.11:70586946:G:T p.(Leu201Ile) NC_000008.11:70586946:G:T p.(Leu201Ile) NC_000008.11:70586946:G:T Identity +NM_001329998.2:c.1985C>T NP_001316927.1:p.Ala662Val NC_000003.12:36857736:G:A p.(Ala662Val) NC_000003.12:36857736:G:A p.(Ala662Val) NC_000003.12:36857736:G:A Identity +NM_001351709.1:c.1588T>C NP_001338638.1:p.Ser530Pro NC_000021.9:44092040:T:C p.(Ser530Pro) NC_000021.9:44092040:T:C p.(Ser530Pro) NC_000021.9:44092040:T:C Identity +NM_001318524.2:c.29A>G NP_001305453.1:p.Lys10Arg NC_000016.10:88857178:A:G p.(Lys10Arg) NC_000016.10:88857178:A:G p.(Lys10Arg) NC_000016.10:88857178:A:G Identity +NM_001042461.3:c.296G>T NP_001035926.1:p.Gly99Val NC_000019.10:7682548:G:T p.(Gly99Val) NC_000019.10:7682548:G:T p.(Gly99Val) NC_000019.10:7682548:G:T Identity +NM_152402.3:c.808C>T NP_689615.2:p.Leu270Phe NC_000004.12:117084585:G:A p.(Leu270Phe) NC_000004.12:117084585:G:A p.(Leu270Phe) NC_000004.12:117084585:G:A Identity +NM_001301065.2:c.1198G>A NP_001287994.1:p.Val400Met NC_000011.10:118659775:C:T p.(Val400Met) NC_000011.10:118659775:C:T p.(Val400Met) NC_000011.10:118659775:C:T Identity +NM_014788.4:c.982G>A NP_055603.2:p.Val328Met NC_000009.12:98087816:C:T p.(Val328Met) NC_000009.12:98087816:C:T p.(Val328Met) NC_000009.12:98087816:C:T Identity +NM_001143906.2:c.1420C>G NP_001137378.1:p.Pro474Ala NC_000012.12:112151940:C:G p.(Pro474Ala) NC_000012.12:112151940:C:G p.(Pro474Ala) NC_000012.12:112151940:C:G Identity +NM_001114118.3:c.841A>G NP_001107590.1:p.Met281Val NC_000017.11:3822007:T:C p.(Met281Val) NC_000017.11:3822007:T:C p.(Met281Val) NC_000017.11:3822007:T:C Identity +NM_001318488.2:c.110A>G NP_001305417.1:p.Asp37Gly NC_000011.10:119018904:A:G p.(Asp37Gly) NC_000011.10:119018904:A:G p.(Asp37Gly) NC_000011.10:119018904:A:G Identity +NM_001042461.3:c.431C>T NP_001035926.1:p.Ala144Val NC_000019.10:7682683:C:T p.(Ala144Val) NC_000019.10:7682683:C:T p.(Ala144Val) NC_000019.10:7682683:C:T Identity +NM_005879.3:c.184C>T NP_005870.2:p.Leu62Phe NC_000003.12:49847580:G:A p.(Leu62Phe) NC_000003.12:49847580:G:A p.(Leu62Phe) NC_000003.12:49847580:G:A Identity +NM_001329998.2:c.5837G>A NP_001316927.1:p.Arg1946Gln NC_000003.12:36833745:C:T p.(Arg1946Gln) NC_000003.12:36833745:C:T p.(Arg1946Gln) NC_000003.12:36833745:C:T Identity +NM_014939.5:c.2635G>A NP_055754.3:p.Glu879Lys NC_000018.10:31864736:C:T p.(Glu879Lys) NC_000018.10:31864736:C:T p.(Glu879Lys) NC_000018.10:31864736:C:T Identity +NM_003852.4:c.1321G>A NP_003843.3:p.Val441Met NC_000007.14:138554756:G:A p.(Val441Met) NC_000007.14:138554756:G:A p.(Val441Met) NC_000007.14:138554756:G:A Identity +NM_033549.5:c.1400A>G NP_291027.3:p.Lys467Arg NC_000005.10:181234281:A:G p.(Lys467Arg) NC_000005.10:181234281:A:G p.(Lys467Arg) NC_000005.10:181234281:A:G Identity +NM_001297573.2:c.3292G>A NP_001284502.1:p.Gly1098Ser NC_000006.12:42232726:C:T p.(Gly1098Ser) NC_000006.12:42232726:C:T p.(Gly1098Ser) NC_000006.12:42232726:C:T Identity +NM_013381.3:c.2027A>G NP_037513.2:p.Lys676Arg NC_000012.12:72563024:A:G p.(Lys676Arg) NC_000012.12:72563024:A:G p.(Lys676Arg) NC_000012.12:72563024:A:G Identity +NM_014817.4:c.1492G>A NP_055632.2:p.Val498Ile NC_000007.14:28956554:C:T p.(Val498Ile) NC_000007.14:28956554:C:T p.(Val498Ile) NC_000007.14:28956554:C:T Identity +NM_014817.4:c.2116A>G NP_055632.2:p.Asn706Asp NC_000007.14:28955930:T:C p.(Asn706Asp) NC_000007.14:28955930:T:C p.(Asn706Asp) NC_000007.14:28955930:T:C Identity +NM_005082.5:c.995A>G NP_005073.2:p.Lys332Arg NC_000017.11:56901510:T:C p.(Lys332Arg) NC_000017.11:56901510:T:C p.(Lys332Arg) NC_000017.11:56901510:T:C Identity +NM_001242783.2:c.1460G>A NP_001229712.1:p.Arg487Gln NC_000006.12:30186035:C:T p.(Arg487Gln) NC_000006.12:30186035:C:T p.(Arg487Gln) NC_000006.12:30186035:C:T Identity +NM_013436.5:c.3081C>A NP_038464.1:p.Asn1027Lys NC_000002.12:182928215:G:T p.(Asn1027Lys) NC_000002.12:182928215:G:T p.(Asn1027Lys) NC_000002.12:182928215:G:T Identity +NM_001184976.2:c.1784G>T NP_001171905.1:p.Arg595Met NC_000012.12:54523448:G:T p.(Arg595Met) NC_000012.12:54523448:G:T p.(Arg595Met) NC_000012.12:54523448:G:T Identity +NM_207363.3:c.275A>G NP_997246.2:p.Gln92Arg NC_000002.12:133130043:T:C p.(Gln92Arg) NC_000002.12:133130043:T:C p.(Gln92Arg) NC_000002.12:133130043:T:C Identity +NM_018207.3:c.329T>C NP_060677.2:p.Leu110Pro NC_000001.11:33181103:A:G p.(Leu110Pro) NC_000001.11:33181103:A:G p.(Leu110Pro) NC_000001.11:33181103:A:G Identity +NM_001206631.1:c.1019A>G NP_001193560.1:p.Lys340Arg NC_000011.10:49054047:T:C p.(Lys340Arg) NC_000011.10:49054047:T:C p.(Lys340Arg) NC_000011.10:49054047:T:C Identity +NM_001130067.2:c.756G>C NP_001123539.1:p.Lys252Asn NC_000004.12:153295362:G:C p.(Lys252Asn) NC_000004.12:153295362:G:C p.(Lys252Asn) NC_000004.12:153295362:G:C Identity +NM_006510.5:c.35A>G NP_006501.1:p.Gln12Arg NC_000006.12:28923597:T:C p.(Gln12Arg) NC_000006.12:28923597:T:C p.(Gln12Arg) NC_000006.12:28923597:T:C Identity +NM_015066.2:c.1013G>A NP_055881.1:p.Arg338His NC_000008.11:27288018:C:T ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_015066.2 not found +NM_017583.6:c.227C>G NP_060053.2:p.Ala76Gly NC_000011.10:35663337:C:G p.(Ala76Gly) NC_000011.10:35663337:C:G p.(Ala76Gly) NC_000011.10:35663337:C:G Identity +NM_015066.2:c.1438A>G NP_055881.1:p.Ile480Val NC_000008.11:27287593:T:C ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:Data provider error: ValueError: Transcript NM_015066.2 not found ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_015066.2, alt_ac=NM_015066.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_015066.2 not found +NM_001184976.2:c.61A>G NP_001171905.1:p.Thr21Ala NC_000012.12:54499462:A:G p.(Thr21Ala) NC_000012.12:54499462:A:G p.(Thr21Ala) NC_000012.12:54499462:A:G Identity +NM_033017.4:c.1287G>T NP_148977.2:p.Leu429Phe NC_000007.14:99892378:C:A p.(Leu429Phe) NC_000007.14:99892378:C:A p.(Leu429Phe) NC_000007.14:99892378:C:A Identity +NM_001039111.3:c.1777G>A NP_001034200.1:p.Gly593Ser NC_000003.12:32890980:G:A p.(Gly593Ser) NC_000003.12:32890980:G:A p.(Gly593Ser) NC_000003.12:32890980:G:A Identity +NM_007118.4:c.8288A>G NP_009049.2:p.Asn2763Ser NC_000005.10:14498595:A:G p.(Asn2763Ser) NC_000005.10:14498595:A:G p.(Asn2763Ser) NC_000005.10:14498595:A:G Identity +NM_001206627.2:c.892A>G NP_001193556.1:p.Ser298Gly NC_000011.10:89912053:T:C p.(Ser298Gly) NC_000011.10:89912053:T:C p.(Ser298Gly) NC_000011.10:89912053:T:C Identity +NM_030961.3:c.1215G>C NP_112223.1:p.Gln405His NC_000007.14:101088526:G:C p.(Gln405His) NC_000007.14:101088526:G:C p.(Gln405His) NC_000007.14:101088526:G:C Identity +NM_001256599.2:c.2122A>G NP_001243528.1:p.Ile708Val NC_000001.11:155184100:A:G p.(Ile708Val) NC_000001.11:155184100:A:G p.(Ile708Val) NC_000001.11:155184100:A:G Identity +NM_033452.3:c.913C>T NP_258411.2:p.Arg305Trp NC_000017.11:75876350:G:A p.(Arg305Trp) NC_000017.11:75876350:G:A p.(Arg305Trp) NC_000017.11:75876350:G:A Identity +NM_207363.3:c.2164C>T NP_997246.2:p.Pro722Ser NC_000002.12:132784646:G:A p.(Pro722Ser) NC_000002.12:132784646:G:A p.(Pro722Ser) NC_000002.12:132784646:G:A Identity +NM_001281450.1:c.1039C>T NP_001268379.1:p.Arg347Cys NC_000007.14:73313342:G:A p.(Arg347Cys) NC_000007.14:73313342:G:A p.(Arg347Cys) NC_000007.14:73313342:G:A Identity +NM_001077260.1:c.812A>C NP_001070728.1:p.Asn271Thr NC_000009.12:37776372:A:C ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001077260.1, alt_ac=NM_001077260.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001077260.1 not found +NM_001350233.2:c.261G>T NP_001337162.1:p.Lys87Asn NC_000004.12:8451988:G:T p.(Lys87Asn) NC_000004.12:8451988:G:T p.(Lys87Asn) NC_000004.12:8451988:G:T Identity +NM_017910.4:c.1403A>C NP_060380.3:p.Lys468Thr NC_000002.12:28850229:T:G p.(Lys468Thr) NC_000002.12:28850229:T:G p.(Lys468Thr) NC_000002.12:28850229:T:G Identity +NM_001388022.1:c.3992A>G NP_001374951.1:p.Gln1331Arg NC_000011.10:8618876:T:C p.(Gln1331Arg) NC_000011.10:8618876:T:C p.(Gln1331Arg) NC_000011.10:8618876:T:C Identity +NM_001037806.4:c.1451C>T NP_001032895.2:p.Ser484Leu NC_000012.12:49796408:G:A p.(Ser484Leu) NC_000012.12:49796408:G:A p.(Ser484Leu) NC_000012.12:49796408:G:A Identity +NM_203293.3:c.993C>A NP_976038.1:p.Asp331Glu NC_000005.10:181198213:G:T p.(Asp331Glu) NC_000005.10:181198213:G:T p.(Asp331Glu) NC_000005.10:181198213:G:T Identity +NM_001037806.4:c.1613C>T NP_001032895.2:p.Pro538Leu NC_000012.12:49796246:G:A p.(Pro538Leu) NC_000012.12:49796246:G:A p.(Pro538Leu) NC_000012.12:49796246:G:A Identity +NM_001099677.1:c.773C>G NP_001093147.1:p.Ser258Cys NC_000008.11:13021829:C:G p.(Ser258Cys) NC_000008.11:13021829:C:G p.(Ser258Cys) NC_000008.11:13021829:C:G Identity +NM_001410976.1:c.1101G>C NP_001397905.1:p.Gln367His NC_000012.12:49329240:G:C p.(Gln367His) NC_000012.12:49329240:G:C p.(Gln367His) NC_000012.12:49329240:G:C Identity +NM_007332.3:c.1573G>A NP_015628.2:p.Gly525Arg NC_000008.11:72053823:C:T p.(Gly525Arg) NC_000008.11:72053823:C:T p.(Gly525Arg) NC_000008.11:72053823:C:T Identity +NM_001251845.2:c.2345G>A NP_001238774.1:p.Arg782Gln NC_000003.12:142806197:G:A p.(Arg782Gln) NC_000003.12:142806197:G:A p.(Arg782Gln) NC_000003.12:142806197:G:A Identity +NM_001135955.3:c.1643C>T NP_001129427.1:p.Thr548Ile NC_000013.11:37663460:G:A p.(Thr548Ile) NC_000013.11:37663460:G:A p.(Thr548Ile) NC_000013.11:37663460:G:A Identity +NM_001320350.2:c.1900C>T NP_001307279.2:p.Arg634Cys NC_000021.9:44395518:C:T p.(Arg634Cys) NC_000021.9:44395518:C:T p.(Arg634Cys) NC_000021.9:44395518:C:T Identity +NM_001007471.4:c.4250T>C NP_001007472.2:p.Leu1417Pro NC_000009.12:70536826:A:G p.(Leu1417Pro) NC_000009.12:70536826:A:G p.(Leu1417Pro) NC_000009.12:70536826:A:G Identity +NM_001350233.2:c.473A>G NP_001337162.1:p.Gln158Arg NC_000004.12:8454805:A:G p.(Gln158Arg) NC_000004.12:8454805:A:G p.(Gln158Arg) NC_000004.12:8454805:A:G Identity +NM_001350233.2:c.1446G>C NP_001337162.1:p.Met482Ile NC_000004.12:8475895:G:C p.(Met482Ile) NC_000004.12:8475895:G:C p.(Met482Ile) NC_000004.12:8475895:G:C Identity +NM_001312691.1:c.1223T>G NP_001299620.1:p.Val408Gly NC_000001.11:39841846:A:C p.(Val408Gly) NC_000001.11:39841846:A:C p.(Val408Gly) NC_000001.11:39841846:A:C Identity +NM_017910.4:c.1106T>C NP_060380.3:p.Leu369Pro NC_000002.12:28851277:A:G p.(Leu369Pro) NC_000002.12:28851277:A:G p.(Leu369Pro) NC_000002.12:28851277:A:G Identity +NM_001177310.2:c.2840G>A NP_001170781.1:p.Arg947Gln NC_000009.12:74785937:C:T p.(Arg947Gln) NC_000009.12:74785937:C:T p.(Arg947Gln) NC_000009.12:74785937:C:T Identity +NM_001033678.4:c.257G>A NP_001028850.2:p.Arg86Gln NC_000011.10:64224870:C:T p.(Arg86Gln) NC_000011.10:64224870:C:T p.(Arg86Gln) NC_000011.10:64224870:C:T Identity +NM_018646.6:c.2249T>C NP_061116.5:p.Ile750Thr NC_000007.14:142871755:A:G p.(Ile750Thr) NC_000007.14:142871755:A:G p.(Ile750Thr) NC_000007.14:142871755:A:G Identity +NM_001321703.2:c.1314G>A NP_001308632.1:p.Met438Ile NC_000008.11:70157050:C:T p.(Met438Ile) NC_000008.11:70157050:C:T p.(Met438Ile) NC_000008.11:70157050:C:T Identity +NM_001303264.2:c.1408C>G NP_001290193.1:p.Leu470Val NC_000003.12:150410757:C:G p.(Leu470Val) NC_000003.12:150410757:C:G p.(Leu470Val) NC_000003.12:150410757:C:G Identity +NM_001251845.2:c.119T>G NP_001238774.1:p.Val40Gly NC_000003.12:142724677:T:G p.(Val40Gly) NC_000003.12:142724677:T:G p.(Val40Gly) NC_000003.12:142724677:T:G Identity +NM_001135955.3:c.118G>A NP_001129427.1:p.Val40Met NC_000013.11:37783215:C:T p.(Val40Met) NC_000013.11:37783215:C:T p.(Val40Met) NC_000013.11:37783215:C:T Identity +NM_001376901.1:c.829G>C NP_001363830.1:p.Val277Leu NC_000005.10:136315730:C:G p.(Val277Leu) NC_000005.10:136315730:C:G p.(Val277Leu) NC_000005.10:136315730:C:G Identity +NM_014555.4:c.80A>G NP_055370.1:p.Glu27Gly NC_000011.10:2422956:T:C p.(Glu27Gly) NC_000011.10:2422956:T:C p.(Glu27Gly) NC_000011.10:2422956:T:C Identity +NM_015638.3:c.1535G>C NP_056453.1:p.Arg512Thr NC_000020.11:35008723:C:G p.(Arg512Thr) NC_000020.11:35008723:C:G p.(Arg512Thr) NC_000020.11:35008723:C:G Identity +NM_001007471.4:c.4886T>G NP_001007472.2:p.Val1629Gly NC_000009.12:70536190:A:C p.(Val1629Gly) NC_000009.12:70536190:A:C p.(Val1629Gly) NC_000009.12:70536190:A:C Identity +NM_001007471.4:c.73A>T NP_001007472.2:p.Asn25Tyr NC_000009.12:71121281:T:A p.(Asn25Tyr) NC_000009.12:71121281:T:A p.(Asn25Tyr) NC_000009.12:71121281:T:A Identity +NM_001193421.2:c.2354A>G NP_001180350.1:p.Gln785Arg NC_000020.11:53255820:A:G p.(Gln785Arg) NC_000020.11:53255820:A:G p.(Gln785Arg) NC_000020.11:53255820:A:G Identity +NM_001288990.3:c.1321G>A NP_001275919.1:p.Val441Met NC_000016.10:67826481:G:A p.(Val441Met) NC_000016.10:67826481:G:A p.(Val441Met) NC_000016.10:67826481:G:A Identity +NM_139022.3:c.116C>T NP_620591.3:p.Ala39Val NC_000011.10:2302892:C:T p.(Ala39Val) NC_000011.10:2302892:C:T p.(Ala39Val) NC_000011.10:2302892:C:T Identity +NM_001301212.2:c.4334A>G NP_001288141.1:p.Asp1445Gly NC_000015.10:50589646:T:C p.(Asp1445Gly) NC_000015.10:50589646:T:C p.(Asp1445Gly) NC_000015.10:50589646:T:C Identity +NM_019841.7:c.2170G>A NP_062815.3:p.Glu724Lys NC_000007.14:142908533:C:T p.(Glu724Lys) NC_000007.14:142908533:C:T p.(Glu724Lys) NC_000007.14:142908533:C:T Identity +NM_001303264.2:c.392C>G NP_001290193.1:p.Pro131Arg NC_000003.12:150409741:C:G p.(Pro131Arg) NC_000003.12:150409741:C:G p.(Pro131Arg) NC_000003.12:150409741:C:G Identity +NM_021733.2:c.398T>A NP_068379.1:p.Leu133Gln NC_000019.10:49762004:A:T p.(Leu133Gln) NC_000019.10:49762004:A:T p.(Leu133Gln) NC_000019.10:49762004:A:T Identity +NM_001258210.2:c.860C>T NP_001245139.1:p.Ser287Leu NC_000011.10:76796475:C:T p.(Ser287Leu) NC_000011.10:76796475:C:T p.(Ser287Leu) NC_000011.10:76796475:C:T Identity +NM_001278740.2:c.208G>A NP_001265669.1:p.Asp70Asn NC_000023.11:100633517:C:T p.(Asp70Asn) NC_000023.11:100633517:C:T p.(Asp70Asn) NC_000023.11:100633517:C:T Identity +NM_018727.5:c.352A>T NP_061197.4:p.Ile118Phe NC_000017.11:3591285:T:A p.(Ile118Phe) NC_000017.11:3591285:T:A p.(Ile118Phe) NC_000017.11:3591285:T:A Identity +NM_207346.3:c.166C>T NP_997229.2:p.Arg56Cys NC_000017.11:75516854:C:T p.(Arg56Cys) NC_000017.11:75516854:C:T p.(Arg56Cys) NC_000017.11:75516854:C:T Identity +NM_053006.5:c.881G>A NP_443732.3:p.Arg294His NC_000022.11:19132279:G:A p.(Arg294His) NC_000022.11:19132279:G:A p.(Arg294His) NC_000022.11:19132279:G:A Identity +NM_001193421.2:c.350A>G NP_001180350.1:p.Asn117Ser NC_000020.11:53253816:A:G p.(Asn117Ser) NC_000020.11:53253816:A:G p.(Asn117Ser) NC_000020.11:53253816:A:G Identity +NM_001193421.2:c.373G>C NP_001180350.1:p.Val125Leu NC_000020.11:53253839:G:C p.(Val125Leu) NC_000020.11:53253839:G:C p.(Val125Leu) NC_000020.11:53253839:G:C Identity +NM_020856.4:c.3234A>T NP_065907.2:p.Leu1078Phe NC_000019.10:31276558:T:A p.(Leu1078Phe) NC_000019.10:31276558:T:A p.(Leu1078Phe) NC_000019.10:31276558:T:A Identity +NM_001113206.2:c.178C>T NP_001106677.1:p.Arg60Cys NC_000001.11:161037821:G:A p.(Arg60Cys) NC_000001.11:161037821:G:A p.(Arg60Cys) NC_000001.11:161037821:G:A Identity +NM_001348148.2:c.208C>T NP_001335077.1:p.Arg70Trp NC_000020.11:46067160:G:A p.(Arg70Trp) NC_000020.11:46067160:G:A p.(Arg70Trp) NC_000020.11:46067160:G:A Identity +NM_032538.3:c.1477C>G NP_115927.1:p.Pro493Ala NC_000006.12:43262840:C:G p.(Pro493Ala) NC_000006.12:43262840:C:G p.(Pro493Ala) NC_000006.12:43262840:C:G Identity +NM_032538.3:c.3145G>A NP_115927.1:p.Gly1049Ser NC_000006.12:43283884:G:A p.(Gly1049Ser) NC_000006.12:43283884:G:A p.(Gly1049Ser) NC_000006.12:43283884:G:A Identity +NM_001318533.2:c.592G>A NP_001305462.1:p.Val198Met NC_000011.10:113335034:G:A p.(Val198Met) NC_000011.10:113335034:G:A p.(Val198Met) NC_000011.10:113335034:G:A Identity +NM_001321703.2:c.3162G>C NP_001308632.1:p.Gln1054His NC_000008.11:70131998:C:G p.(Gln1054His) NC_000008.11:70131998:C:G p.(Gln1054His) NC_000008.11:70131998:C:G Identity +NM_001006616.3:c.190G>A NP_001006617.2:p.Val64Met NC_000005.10:176651804:G:A p.(Val64Met) NC_000005.10:176651804:G:A p.(Val64Met) NC_000005.10:176651804:G:A Identity +NM_001122835.3:c.491G>A NP_001116307.2:p.Arg164Gln NC_000001.11:230954354:C:T p.(Arg164Gln) NC_000001.11:230954354:C:T p.(Arg164Gln) NC_000001.11:230954354:C:T Identity +NM_022117.4:c.616G>A NP_071400.1:p.Glu206Lys NC_000023.11:53083113:G:A p.(Glu206Lys) NC_000023.11:53083113:G:A p.(Glu206Lys) NC_000023.11:53083113:G:A Identity +NM_001145260.2:c.1585G>A NP_001138732.1:p.Gly529Ser NC_000010.11:46010383:C:T p.(Gly529Ser) NC_000010.11:46010383:C:T p.(Gly529Ser) NC_000010.11:46010383:C:T Identity +NM_139246.5:c.629A>G NP_640339.4:p.Asn210Ser NC_000009.12:97611673:T:C p.(Asn210Ser) NC_000009.12:97611673:T:C p.(Asn210Ser) NC_000009.12:97611673:T:C Identity +NM_024753.5:c.3049T>C NP_079029.3:p.Ser1017Pro NC_000002.12:165890889:A:G p.(Ser1017Pro) NC_000002.12:165890889:A:G p.(Ser1017Pro) NC_000002.12:165890889:A:G Identity +NM_001122842.3:c.1099A>T NP_001116314.1:p.Arg367Trp NC_000006.12:125889185:A:T p.(Arg367Trp) NC_000006.12:125889185:A:T p.(Arg367Trp) NC_000006.12:125889185:A:T Identity +NM_001001894.3:c.5453G>A NP_001001894.1:p.Arg1818Gln NC_000021.9:37195909:G:A p.(Arg1818Gln) NC_000021.9:37195909:G:A p.(Arg1818Gln) NC_000021.9:37195909:G:A Identity +NM_001001894.3:c.5747C>T NP_001001894.1:p.Ser1916Phe NC_000021.9:37197921:C:T p.(Ser1916Phe) NC_000021.9:37197921:C:T p.(Ser1916Phe) NC_000021.9:37197921:C:T Identity +NM_001376129.1:c.745C>A NP_001363058.1:p.Pro249Thr NC_000002.12:74491540:C:A p.(Pro249Thr) NC_000002.12:74491540:C:A p.(Pro249Thr) NC_000002.12:74491540:C:A Identity +NM_001122835.3:c.1484A>C NP_001116307.2:p.Asn495Thr NC_000001.11:230924918:T:G p.(Asn495Thr) NC_000001.11:230924918:T:G p.(Asn495Thr) NC_000001.11:230924918:T:G Identity +NM_001288951.2:c.450T>A NP_001275880.1:p.Asp150Glu NC_000002.12:46956939:T:A p.(Asp150Glu) NC_000002.12:46956939:T:A p.(Asp150Glu) NC_000002.12:46956939:T:A Identity +NM_007344.4:c.307A>G NP_031370.2:p.Thr103Ala NC_000009.12:132402514:T:C p.(Thr103Ala) NC_000009.12:132402514:T:C p.(Thr103Ala) NC_000009.12:132402514:T:C Identity +NM_001303457.2:c.2248G>A NP_001290386.1:p.Asp750Asn NC_000020.11:38011568:C:T p.(Asp750Asn) NC_000020.11:38011568:C:T p.(Asp750Asn) NC_000020.11:38011568:C:T Identity +NM_001288951.2:c.1803C>G NP_001275880.1:p.Asn601Lys NC_000002.12:47046314:C:G p.(Asn601Lys) NC_000002.12:47046314:C:G p.(Asn601Lys) NC_000002.12:47046314:C:G Identity +NM_007344.4:c.752A>G NP_031370.2:p.Gln251Arg NC_000009.12:132402069:T:C p.(Gln251Arg) NC_000009.12:132402069:T:C p.(Gln251Arg) NC_000009.12:132402069:T:C Identity +NM_001303457.2:c.620C>A NP_001290386.1:p.Ala207Asp NC_000020.11:38013196:G:T p.(Ala207Asp) NC_000020.11:38013196:G:T p.(Ala207Asp) NC_000020.11:38013196:G:T Identity +NM_001193509.2:c.706A>G NP_001180438.1:p.Ile236Val NC_000002.12:32666684:A:G p.(Ile236Val) NC_000002.12:32666684:A:G p.(Ile236Val) NC_000002.12:32666684:A:G Identity +NM_001122842.3:c.1042C>T NP_001116314.1:p.Pro348Ser NC_000006.12:125889128:C:T p.(Pro348Ser) NC_000006.12:125889128:C:T p.(Pro348Ser) NC_000006.12:125889128:C:T Identity +NM_015072.5:c.1286G>A NP_055887.3:p.Cys429Tyr NC_000014.9:75745098:G:A p.(Cys429Tyr) NC_000014.9:75745098:G:A p.(Cys429Tyr) NC_000014.9:75745098:G:A Identity +NM_001077261.4:c.3418A>G NP_001070729.2:p.Met1140Val NC_000012.12:124354872:T:C p.(Met1140Val) NC_000012.12:124354872:T:C p.(Met1140Val) NC_000012.12:124354872:T:C Identity +NM_001320509.2:c.703T>C NP_001307438.1:p.Ser235Pro NC_000017.11:42665544:T:C p.(Ser235Pro) NC_000017.11:42665544:T:C p.(Ser235Pro) NC_000017.11:42665544:T:C Identity +NM_001009881.3:c.4178G>A NP_001009881.1:p.Arg1393His NC_000001.11:52435449:C:T p.(Arg1393His) NC_000001.11:52435449:C:T p.(Arg1393His) NC_000001.11:52435449:C:T Identity +NM_003594.4:c.1948G>A NP_003585.3:p.Ala650Thr NC_000001.11:117084061:G:A p.(Ala650Thr) NC_000001.11:117084061:G:A p.(Ala650Thr) NC_000001.11:117084061:G:A Identity +NM_001130045.2:c.2001G>T NP_001123517.1:p.Glu667Asp NC_000001.11:1197825:G:T p.(Glu667Asp) NC_000001.11:1197825:G:T p.(Glu667Asp) NC_000001.11:1197825:G:T Identity +NM_001410948.1:c.640C>G NP_001397877.1:p.Leu214Val NC_000006.12:167340758:C:G p.(Leu214Val) NC_000006.12:167340758:C:G p.(Leu214Val) NC_000006.12:167340758:C:G Identity +NM_014640.5:c.1369C>T NP_055455.3:p.Pro457Ser NC_000002.12:218739044:C:T p.(Pro457Ser) NC_000002.12:218739044:C:T p.(Pro457Ser) NC_000002.12:218739044:C:T Identity +NM_001303457.2:c.3102G>C NP_001290386.1:p.Leu1034Phe NC_000020.11:37983623:C:G p.(Leu1034Phe) NC_000020.11:37983623:C:G p.(Leu1034Phe) NC_000020.11:37983623:C:G Identity +NM_001166691.2:c.1657T>C NP_001160163.1:p.Tyr553His NC_000006.12:80035029:T:C p.(Tyr553His) NC_000006.12:80035029:T:C p.(Tyr553His) NC_000006.12:80035029:T:C Identity +NM_001185059.2:c.2006A>G NP_001171988.1:p.Asp669Gly NC_000009.12:86323743:T:C p.(Asp669Gly) NC_000009.12:86323743:T:C p.(Asp669Gly) NC_000009.12:86323743:T:C Identity +NM_003328.3:c.442T>C NP_003319.2:p.Tyr148His NC_000004.12:48110541:A:G p.(Tyr148His) NC_000004.12:48110541:A:G p.(Tyr148His) NC_000004.12:48110541:A:G Identity +NM_001376857.1:c.241G>A NP_001363786.1:p.Asp81Asn NC_000001.11:32181312:G:A p.(Asp81Asn) NC_000001.11:32181312:G:A p.(Asp81Asn) NC_000001.11:32181312:G:A Identity +NM_001350735.2:c.278C>T NP_001337664.1:p.Thr93Ile NC_000005.10:134888072:C:T p.(Thr93Ile) NC_000005.10:134888072:C:T p.(Thr93Ile) NC_000005.10:134888072:C:T Identity +NM_015072.5:c.2884C>T NP_055887.3:p.Arg962Cys NC_000014.9:75783427:C:T p.(Arg962Cys) NC_000014.9:75783427:C:T p.(Arg962Cys) NC_000014.9:75783427:C:T Identity +NM_001256850.1:c.40879_40880del NP_001243779.1:p.Asp13627fs NC_000002.12:178620806:TCTCT:TCT p.(Asp13627CysfsTer5) NC_000002.12:178620806:TCTCT:TCT p.(Asp13627CysfsTer5) NC_000002.12:178620806:TC: Analogous +NM_001286277.2:c.1265G>A NP_001273206.1:p.Arg422His NC_000013.11:112545738:C:T p.(Arg422His) NC_000013.11:112545738:C:T p.(Arg422His) NC_000013.11:112545738:C:T Identity +NM_001126337.2:c.584A>G NP_001119809.1:p.Asp195Gly NC_000001.11:151574333:A:G p.(Asp195Gly) NC_000001.11:151574333:A:G p.(Asp195Gly) NC_000001.11:151574333:A:G Identity +NM_001130918.3:c.1868C>T NP_001124390.1:p.Thr623Met NC_000017.11:48785094:G:A p.(Thr623Met) NC_000017.11:48785094:G:A p.(Thr623Met) NC_000017.11:48785094:G:A Identity +NM_001007466.3:c.853C>A NP_001007467.1:p.Leu285Met NC_000006.12:158452261:C:A p.(Leu285Met) NC_000006.12:158452261:C:A p.(Leu285Met) NC_000006.12:158452261:C:A Identity +NM_018227.6:c.613G>A NP_060697.4:p.Val205Ile NC_000004.12:67670525:C:T p.(Val205Ile) NC_000004.12:67670525:C:T p.(Val205Ile) NC_000004.12:67670525:C:T Identity +NM_001330467.2:c.340C>A NP_001317396.1:p.Pro114Thr NC_000016.10:4609751:G:T p.(Pro114Thr) NC_000016.10:4609751:G:T p.(Pro114Thr) NC_000016.10:4609751:G:T Identity +NM_001077261.4:c.5392C>T NP_001070729.2:p.Arg1798Trp NC_000012.12:124340359:G:A p.(Arg1798Trp) NC_000012.12:124340359:G:A p.(Arg1798Trp) NC_000012.12:124340359:G:A Identity +NM_001303447.2:c.931G>T NP_001290376.1:p.Val311Leu NC_000016.10:11700507:C:A p.(Val311Leu) NC_000016.10:11700507:C:A p.(Val311Leu) NC_000016.10:11700507:C:A Identity +NM_020461.4:c.572C>T NP_065194.3:p.Pro191Leu NC_000022.11:50243887:G:A p.(Pro191Leu) NC_000022.11:50243887:G:A p.(Pro191Leu) NC_000022.11:50243887:G:A Identity +NM_007275.3:c.293G>A NP_009206.1:p.Arg98His NC_000003.12:50326160:C:T p.(Arg98His) NC_000003.12:50326160:C:T p.(Arg98His) NC_000003.12:50326160:C:T Identity +NM_001185059.2:c.55A>G NP_001171988.1:p.Met19Val NC_000009.12:86353144:T:C p.(Met19Val) NC_000009.12:86353144:T:C p.(Met19Val) NC_000009.12:86353144:T:C Identity +NM_001105562.3:c.142G>A NP_001099032.1:p.Gly48Arg NC_000001.11:10072144:G:A p.(Gly48Arg) NC_000001.11:10072144:G:A p.(Gly48Arg) NC_000001.11:10072144:G:A Identity +NM_203412.2:c.454C>T NP_981957.1:p.Leu152Phe NC_000001.11:110112987:C:T p.(Leu152Phe) NC_000001.11:110112987:C:T p.(Leu152Phe) NC_000001.11:110112987:C:T Identity +NM_001040273.3:c.852T>G NP_001035363.1:p.Cys284Trp NC_000010.11:70145734:A:C p.(Cys284Trp) NC_000010.11:70145734:A:C p.(Cys284Trp) NC_000010.11:70145734:A:C Identity +NM_001185059.2:c.2069G>A NP_001171988.1:p.Cys690Tyr NC_000009.12:86323680:C:T p.(Cys690Tyr) NC_000009.12:86323680:C:T p.(Cys690Tyr) NC_000009.12:86323680:C:T Identity +NM_001185059.2:c.35G>A NP_001171988.1:p.Arg12His NC_000009.12:86353164:C:T p.(Arg12His) NC_000009.12:86353164:C:T p.(Arg12His) NC_000009.12:86353164:C:T Identity +NM_001376857.1:c.154C>T NP_001363786.1:p.Pro52Ser NC_000001.11:32180498:C:T p.(Pro52Ser) NC_000001.11:32180498:C:T p.(Pro52Ser) NC_000001.11:32180498:C:T Identity +NM_001244766.2:c.334A>G NP_001231695.1:p.Ile112Val NC_000004.12:70975195:A:G p.(Ile112Val) NC_000004.12:70975195:A:G p.(Ile112Val) NC_000004.12:70975195:A:G Identity +NM_001163692.2:c.1027C>T NP_001157164.1:p.Arg343Cys NC_000015.10:65093215:G:A p.(Arg343Cys) NC_000015.10:65093215:G:A p.(Arg343Cys) NC_000015.10:65093215:G:A Identity +NM_001363705.2:c.4727G>A NP_001350634.1:p.Arg1576His NC_000006.12:42683062:G:A p.(Arg1576His) NC_000006.12:42683062:G:A p.(Arg1576His) NC_000006.12:42683062:G:A Identity +NM_020765.3:c.6329G>C NP_065816.2:p.Gly2110Ala NC_000001.11:19155046:C:G p.(Gly2110Ala) NC_000001.11:19155046:C:G p.(Gly2110Ala) NC_000001.11:19155046:C:G Identity +NM_001363365.2:c.1264T>G NP_001350294.1:p.Leu422Val NC_000011.10:122798952:T:G p.(Leu422Val) NC_000011.10:122798952:T:G p.(Leu422Val) NC_000011.10:122798952:T:G Identity +NM_014501.3:c.292G>A NP_055316.2:p.Val98Met NC_000019.10:55404337:C:T p.(Val98Met) NC_000019.10:55404337:C:T p.(Val98Met) NC_000019.10:55404337:C:T Identity +NM_000372.5:c.1306G>A NP_000363.1:p.Gly436Ser NC_000011.10:89284893:G:A p.(Gly436Ser) NC_000011.10:89284893:G:A p.(Gly436Ser) NC_000011.10:89284893:G:A Identity +NM_001039693.3:c.122C>A NP_001034782.1:p.Thr41Lys NC_000002.12:199948428:G:T p.(Thr41Lys) NC_000002.12:199948428:G:T p.(Thr41Lys) NC_000002.12:199948428:G:T Identity +NM_016172.3:c.227G>C NP_057256.2:p.Arg76Thr NC_000009.12:135955326:C:G p.(Arg76Thr) NC_000009.12:135955326:C:G p.(Arg76Thr) NC_000009.12:135955326:C:G Identity +NM_001330467.2:c.379G>A NP_001317396.1:p.Ala127Thr NC_000016.10:4609712:C:T p.(Ala127Thr) NC_000016.10:4609712:C:T p.(Ala127Thr) NC_000016.10:4609712:C:T Identity +NM_001163692.2:c.1063C>G NP_001157164.1:p.Gln355Glu NC_000015.10:65093179:G:C p.(Gln355Glu) NC_000015.10:65093179:G:C p.(Gln355Glu) NC_000015.10:65093179:G:C Identity +NM_001145335.1:c.443C>G NP_001138807.1:p.Pro148Arg NC_000015.10:75873470:C:G p.(Pro148Arg) NC_000015.10:75873470:C:G p.(Pro148Arg) NC_000015.10:75873470:C:G Identity +NM_001381943.1:c.270G>A NP_001368872.1:p.Met90Ile NC_000011.10:73977952:C:T p.(Met90Ile) NC_000011.10:73977952:C:T p.(Met90Ile) NC_000011.10:73977952:C:T Identity +NM_001035247.3:c.32T>C NP_001030324.2:p.Ile11Thr NC_000022.11:19475573:A:G p.(Ile11Thr) NC_000022.11:19475573:A:G p.(Ile11Thr) NC_000022.11:19475573:A:G Identity +NM_007120.3:c.862T>C NP_009051.1:p.Ser288Pro NC_000002.12:233719681:T:C p.(Ser288Pro) NC_000002.12:233719681:T:C p.(Ser288Pro) NC_000002.12:233719681:T:C Identity +NM_001001895.3:c.1694C>T NP_001001895.1:p.Pro565Leu NC_000021.9:42444602:C:T p.(Pro565Leu) NC_000021.9:42444602:C:T p.(Pro565Leu) NC_000021.9:42444602:C:T Identity +NM_022066.4:c.3809G>A NP_071349.3:p.Arg1270Gln NC_000017.11:76391012:C:T p.(Arg1270Gln) NC_000017.11:76391012:C:T p.(Arg1270Gln) NC_000017.11:76391012:C:T Identity +NM_014671.3:c.857C>T NP_055486.2:p.Ala286Val NC_000007.14:157182193:C:T p.(Ala286Val) NC_000007.14:157182193:C:T p.(Ala286Val) NC_000007.14:157182193:C:T Identity +NM_152376.5:c.425T>C NP_689589.1:p.Leu142Pro NC_000001.11:20190985:T:C p.(Leu142Pro) NC_000001.11:20190985:T:C p.(Leu142Pro) NC_000001.11:20190985:T:C Identity +NM_001304342.2:c.1519A>G NP_001291271.1:p.Thr507Ala NC_000001.11:156041558:T:C p.(Thr507Ala) NC_000001.11:156041558:T:C p.(Thr507Ala) NC_000001.11:156041558:T:C Identity +NM_174916.3:c.1909T>G NP_777576.1:p.Phe637Val NC_000015.10:43038172:A:C p.(Phe637Val) NC_000015.10:43038172:A:C p.(Phe637Val) NC_000015.10:43038172:A:C Identity +NM_172070.4:c.4337A>G NP_742067.3:p.Asn1446Ser NC_000002.12:170008909:A:G p.(Asn1446Ser) NC_000002.12:170008909:A:G p.(Asn1446Ser) NC_000002.12:170008909:A:G Identity +NM_020765.3:c.12304G>C NP_065816.2:p.Val4102Leu NC_000001.11:19106657:C:G p.(Val4102Leu) NC_000001.11:19106657:C:G p.(Val4102Leu) NC_000001.11:19106657:C:G Identity +NM_001142610.2:c.2840C>T NP_001136082.1:p.Ser947Phe NC_000017.11:19780547:G:A p.(Ser947Phe) NC_000017.11:19780547:G:A p.(Ser947Phe) NC_000017.11:19780547:G:A Identity +NM_174916.3:c.4255G>C NP_777576.1:p.Asp1419His NC_000015.10:42976830:C:G p.(Asp1419His) NC_000015.10:42976830:C:G p.(Asp1419His) NC_000015.10:42976830:C:G Identity +NM_019077.3:c.644A>G NP_061950.2:p.Glu215Gly NC_000002.12:233682580:A:G p.(Glu215Gly) NC_000002.12:233682580:A:G p.(Glu215Gly) NC_000002.12:233682580:A:G Identity +NM_001143975.1:c.518A>G NP_001137447.1:p.Asp173Gly NC_000011.10:90086466:A:G p.(Asp173Gly) NC_000011.10:90086466:A:G p.(Asp173Gly) NC_000011.10:90086466:A:G Identity +NM_018359.5:c.1003G>A NP_060829.2:p.Val335Ile NC_000004.12:185408053:C:T p.(Val335Ile) NC_000004.12:185408053:C:T p.(Val335Ile) NC_000004.12:185408053:C:T Identity +NM_001033576.2:c.1072C>T NP_001028748.1:p.Leu358Phe NC_000017.11:35164086:C:T p.(Leu358Phe) NC_000017.11:35164086:C:T p.(Leu358Phe) NC_000017.11:35164086:C:T Identity +NM_018359.5:c.421C>G NP_060829.2:p.His141Asp NC_000004.12:185415779:G:C p.(His141Asp) NC_000004.12:185415779:G:C p.(His141Asp) NC_000004.12:185415779:G:C Identity +NM_001076.4:c.197C>T NP_001067.2:p.Ala66Val NC_000004.12:68670421:G:A p.(Ala66Val) NC_000004.12:68670421:G:A p.(Ala66Val) NC_000004.12:68670421:G:A Identity +NM_022477.4:c.1049C>G NP_071922.2:p.Pro350Arg NC_000020.11:36653562:G:C p.(Pro350Arg) NC_000020.11:36653562:G:C p.(Pro350Arg) NC_000020.11:36653562:G:C Identity +NM_001317089.2:c.161T>A NP_001304018.1:p.Ile54Asn NC_000006.12:149970090:T:A p.(Ile54Asn) NC_000006.12:149970090:T:A p.(Ile54Asn) NC_000006.12:149970090:T:A Identity +NM_001076.4:c.615A>C NP_001067.2:p.Gln205His NC_000004.12:68670003:T:G p.(Gln205His) NC_000004.12:68670003:T:G p.(Gln205His) NC_000004.12:68670003:T:G Identity +NM_001074.4:c.1185G>C NP_001065.2:p.Leu395Phe NC_000004.12:69108196:G:C p.(Leu395Phe) NC_000004.12:69108196:G:C p.(Leu395Phe) NC_000004.12:69108196:G:C Identity +NM_024761.5:c.98G>A NP_079037.3:p.Arg33Gln NC_000009.12:27455452:C:T p.(Arg33Gln) NC_000009.12:27455452:C:T p.(Arg33Gln) NC_000009.12:27455452:C:T Identity +NM_016327.3:c.325A>G NP_057411.1:p.Met109Val NC_000022.11:24502173:A:G p.(Met109Val) NC_000022.11:24502173:A:G p.(Met109Val) NC_000022.11:24502173:A:G Identity +NM_001353651.2:c.16G>A NP_001340580.1:p.Glu6Lys NC_000013.11:114281654:G:A p.(Glu6Lys) NC_000013.11:114281654:G:A p.(Glu6Lys) NC_000013.11:114281654:G:A Identity +NM_001252274.3:c.349G>A NP_001239203.2:p.Asp117Asn NC_000004.12:69647295:C:T p.(Asp117Asn) NC_000004.12:69647295:C:T p.(Asp117Asn) NC_000004.12:69647295:C:T Identity +NM_001135242.2:c.421G>T NP_001128714.1:p.Ala141Ser NC_000008.11:133258394:C:A p.(Ala141Ser) NC_000008.11:133258394:C:A p.(Ala141Ser) NC_000008.11:133258394:C:A Identity +NM_001297616.2:c.854C>G NP_001284545.1:p.Ser285Trp NC_000004.12:69485255:G:C p.(Ser285Trp) NC_000004.12:69485255:G:C p.(Ser285Trp) NC_000004.12:69485255:G:C Identity +NM_001301063.2:c.1353G>T NP_001287992.1:p.Trp451Cys NC_000005.10:150535800:G:T p.(Trp451Cys) NC_000005.10:150535800:G:T p.(Trp451Cys) NC_000005.10:150535800:G:T Identity +NM_001004416.3:c.497C>G NP_001004416.3:p.Pro166Arg NC_000021.9:42085305:C:G p.(Pro166Arg) NC_000021.9:42085305:C:G p.(Pro166Arg) NC_000021.9:42085305:C:G Identity +NM_001330653.3:c.3608G>T NP_001317582.1:p.Ser1203Ile NC_000009.12:35398575:G:T p.(Ser1203Ile) NC_000009.12:35398575:G:T p.(Ser1203Ile) NC_000009.12:35398575:G:T Identity +NM_199242.3:c.185C>T NP_954712.1:p.Thr62Ile NC_000017.11:75843234:G:A p.(Thr62Ile) NC_000017.11:75843234:G:A p.(Thr62Ile) NC_000017.11:75843234:G:A Identity +NM_001330653.3:c.2317G>A NP_001317582.1:p.Ala773Thr NC_000009.12:35381627:G:A p.(Ala773Thr) NC_000009.12:35381627:G:A p.(Ala773Thr) NC_000009.12:35381627:G:A Identity +NM_001330653.3:c.559C>G NP_001317582.1:p.Arg187Gly NC_000009.12:35295727:C:G p.(Arg187Gly) NC_000009.12:35295727:C:G p.(Arg187Gly) NC_000009.12:35295727:C:G Identity +NM_001330107.2:c.1720C>T NP_001317036.1:p.Pro574Ser NC_000010.11:73805612:G:A p.(Pro574Ser) NC_000010.11:73805612:G:A p.(Pro574Ser) NC_000010.11:73805612:G:A Identity +NM_001322818.2:c.2248C>G NP_001309747.1:p.Leu750Val NC_000008.11:35759418:C:G p.(Leu750Val) NC_000008.11:35759418:C:G p.(Leu750Val) NC_000008.11:35759418:C:G Identity +NM_001080534.3:c.4966G>A NP_001074003.1:p.Asp1656Asn NC_000015.10:54494639:G:A p.(Asp1656Asn) NC_000015.10:54494639:G:A p.(Asp1656Asn) NC_000015.10:54494639:G:A Identity +NM_001346218.2:c.574G>A NP_001333147.1:p.Asp192Asn NC_000014.9:93477682:G:A p.(Asp192Asn) NC_000014.9:93477682:G:A p.(Asp192Asn) NC_000014.9:93477682:G:A Identity +NM_001243759.2:c.933G>C NP_001230688.1:p.Met311Ile NC_000011.10:119357254:C:G p.(Met311Ile) NC_000011.10:119357254:C:G p.(Met311Ile) NC_000011.10:119357254:C:G Identity +NM_001008563.5:c.2498A>G NP_001008563.2:p.Lys833Arg NC_000009.12:129878425:A:G p.(Lys833Arg) NC_000009.12:129878425:A:G p.(Lys833Arg) NC_000009.12:129878425:A:G Identity +NM_001346218.2:c.3682A>T NP_001333147.1:p.Arg1228Trp NC_000014.9:93603345:A:T p.(Arg1228Trp) NC_000014.9:93603345:A:T p.(Arg1228Trp) NC_000014.9:93603345:A:T Identity +NM_001346218.2:c.5816C>T NP_001333147.1:p.Pro1939Leu NC_000014.9:93630857:C:T p.(Pro1939Leu) NC_000014.9:93630857:C:T p.(Pro1939Leu) NC_000014.9:93630857:C:T Identity +NM_001353644.2:c.784G>C NP_001340573.1:p.Glu262Gln NC_000013.11:114304872:G:C p.(Glu262Gln) NC_000013.11:114304872:G:C p.(Glu262Gln) NC_000013.11:114304872:G:C Identity +NM_001252641.2:c.926T>C NP_001239570.1:p.Val309Ala NC_000019.10:30009297:T:C p.(Val309Ala) NC_000019.10:30009297:T:C p.(Val309Ala) NC_000019.10:30009297:T:C Identity +NM_001346252.4:c.218C>T NP_001333181.1:p.Thr73Ile NC_000011.10:113852550:G:A p.(Thr73Ile) NC_000011.10:113852550:G:A p.(Thr73Ile) NC_000011.10:113852550:G:A Identity +NM_032582.4:c.1240G>A NP_115971.2:p.Asp414Asn NC_000017.11:60226230:C:T p.(Asp414Asn) NC_000017.11:60226230:C:T p.(Asp414Asn) NC_000017.11:60226230:C:T Identity +NM_005000.5:c.46G>A NP_004991.1:p.Val16Met NC_000007.14:123557423:C:T p.(Val16Met) NC_000007.14:123557423:C:T p.(Val16Met) NC_000007.14:123557423:C:T Identity +NM_014222.3:c.467G>C NP_055037.1:p.Gly156Ala NC_000009.12:122144292:C:G p.(Gly156Ala) NC_000009.12:122144292:C:G p.(Gly156Ala) NC_000009.12:122144292:C:G Identity +NM_003796.3:c.80C>G NP_003787.2:p.Ala27Gly NC_000019.10:29942626:C:G p.(Ala27Gly) NC_000019.10:29942626:C:G p.(Ala27Gly) NC_000019.10:29942626:C:G Identity +NM_001252078.2:c.2933T>G NP_001239007.1:p.Met978Arg NC_000012.12:62404361:T:G p.(Met978Arg) NC_000012.12:62404361:T:G p.(Met978Arg) NC_000012.12:62404361:T:G Identity +NM_001321291.2:c.3246G>T NP_001308220.1:p.Lys1082Asn NC_000017.11:78798545:C:A p.(Lys1082Asn) NC_000017.11:78798545:C:A p.(Lys1082Asn) NC_000017.11:78798545:C:A Identity +NM_001387221.1:c.2632C>G NP_001374150.1:p.Leu878Val NC_000016.10:23069352:G:C p.(Leu878Val) NC_000016.10:23069352:G:C p.(Leu878Val) NC_000016.10:23069352:G:C Identity +NM_014709.4:c.1534C>T NP_055524.3:p.Pro512Ser NC_000002.12:61349258:G:A p.(Pro512Ser) NC_000002.12:61349258:G:A p.(Pro512Ser) NC_000002.12:61349258:G:A Identity +NM_014709.4:c.9643G>A NP_055524.3:p.Glu3215Lys NC_000002.12:61190603:C:T p.(Glu3215Lys) NC_000002.12:61190603:C:T p.(Glu3215Lys) NC_000002.12:61190603:C:T Identity +NM_007123.6:c.3280T>A NP_009054.6:p.Phe1094Ile NC_000001.11:216207308:A:T p.(Phe1094Ile) NC_000001.11:216207308:A:T p.(Phe1094Ile) NC_000001.11:216207308:A:T Identity +NM_004205.5:c.746G>A NP_004196.4:p.Arg249His NC_000011.10:119372734:C:T p.(Arg249His) NC_000011.10:119372734:C:T p.(Arg249His) NC_000011.10:119372734:C:T Identity +NM_001320437.2:c.3871A>G NP_001307366.1:p.Ser1291Gly NC_000010.11:73516383:T:C p.(Ser1291Gly) NC_000010.11:73516383:T:C p.(Ser1291Gly) NC_000010.11:73516383:T:C Identity +NM_001256725.2:c.124A>C NP_001243654.1:p.Ser42Arg NC_000002.12:85616318:A:C p.(Ser42Arg) NC_000002.12:85616318:A:C p.(Ser42Arg) NC_000002.12:85616318:A:C Identity +NM_018428.3:c.399G>T NP_060898.2:p.Met133Ile NC_000017.11:31892284:C:A p.(Met133Ile) NC_000017.11:31892284:C:A p.(Met133Ile) NC_000017.11:31892284:C:A Identity +NM_001351157.2:c.1355A>G NP_001338086.1:p.Asp452Gly NC_000016.10:70692949:T:C p.(Asp452Gly) NC_000016.10:70692949:T:C p.(Asp452Gly) NC_000016.10:70692949:T:C Identity +NM_001321532.2:c.2375C>T NP_001308461.1:p.Ala792Val NC_000013.11:30658994:C:T p.(Ala792Val) NC_000013.11:30658994:C:T p.(Ala792Val) NC_000013.11:30658994:C:T Identity +NM_001284430.1:c.593C>G NP_001271359.1:p.Ser198Cys NC_000005.10:73570687:C:G p.(Ser198Cys) NC_000005.10:73570687:C:G p.(Ser198Cys) NC_000005.10:73570687:C:G Identity +NM_001321291.2:c.2764G>T NP_001308220.1:p.Gly922Cys NC_000017.11:78803430:C:A p.(Gly922Cys) NC_000017.11:78803430:C:A p.(Gly922Cys) NC_000017.11:78803430:C:A Identity +NM_001080481.3:c.1024A>G NP_001073950.1:p.Lys342Glu NC_000006.12:99466754:T:C p.(Lys342Glu) NC_000006.12:99466754:T:C p.(Lys342Glu) NC_000006.12:99466754:T:C Identity +NM_001098536.2:c.1646C>T NP_001092006.1:p.Ala549Val NC_000012.12:6861589:C:T p.(Ala549Val) NC_000012.12:6861589:C:T p.(Ala549Val) NC_000012.12:6861589:C:T Identity +NM_201286.4:c.130G>C NP_958443.1:p.Ala44Pro NC_000023.11:55488809:C:G p.(Ala44Pro) NC_000023.11:55488809:C:G p.(Ala44Pro) NC_000023.11:55488809:C:G Identity +NM_005715.3:c.1142C>T NP_005706.1:p.Thr381Ile NC_000006.12:149074036:C:T p.(Thr381Ile) NC_000006.12:149074036:C:T p.(Thr381Ile) NC_000006.12:149074036:C:T Identity +NM_001199957.2:c.367G>A NP_001186886.1:p.Asp123Asn NC_000003.12:179623992:G:A p.(Asp123Asn) NC_000003.12:179623992:G:A p.(Asp123Asn) NC_000003.12:179623992:G:A Identity +NM_014909.5:c.562C>T NP_055724.1:p.Arg188Cys NC_000014.9:76775922:C:T p.(Arg188Cys) NC_000014.9:76775922:C:T p.(Arg188Cys) NC_000014.9:76775922:C:T Identity +NM_138440.3:c.1331A>G NP_612449.2:p.Gln444Arg NC_000016.10:4382207:A:G p.(Gln444Arg) NC_000016.10:4382207:A:G p.(Gln444Arg) NC_000016.10:4382207:A:G Identity +NM_020927.3:c.44T>A NP_065978.1:p.Met15Lys NC_000016.10:77788725:T:A p.(Met15Lys) NC_000016.10:77788725:T:A p.(Met15Lys) NC_000016.10:77788725:T:A Identity +NM_001134398.2:c.257T>A NP_001127870.1:p.Phe86Tyr NC_000009.12:133939166:A:T p.(Phe86Tyr) NC_000009.12:133939166:A:T p.(Phe86Tyr) NC_000009.12:133939166:A:T Identity +NM_017947.4:c.2078G>T NP_060417.4:p.Trp693Leu NC_000018.10:36251196:G:T p.(Trp693Leu) NC_000018.10:36251196:G:T p.(Trp693Leu) NC_000018.10:36251196:G:T Identity +NM_032334.3:c.728A>G NP_115710.2:p.Lys243Arg NC_000008.11:116771819:A:G p.(Lys243Arg) NC_000008.11:116771819:A:G p.(Lys243Arg) NC_000008.11:116771819:A:G Identity +NM_014388.7:c.2087T>A NP_055203.4:p.Phe696Tyr NC_000001.11:209851262:T:A p.(Phe696Tyr) NC_000001.11:209851262:T:A p.(Phe696Tyr) NC_000001.11:209851262:T:A Identity +NM_001284430.1:c.859G>A NP_001271359.1:p.Val287Ile NC_000005.10:73577876:G:A p.(Val287Ile) NC_000005.10:73577876:G:A p.(Val287Ile) NC_000005.10:73577876:G:A Identity +NM_014503.3:c.3388G>A NP_055318.2:p.Val1130Ile NC_000012.12:101329419:G:A p.(Val1130Ile) NC_000012.12:101329419:G:A p.(Val1130Ile) NC_000012.12:101329419:G:A Identity +NM_007124.3:c.1740G>A NP_009055.2:p.Met580Ile NC_000006.12:144447618:G:A p.(Met580Ile) NC_000006.12:144447618:G:A p.(Met580Ile) NC_000006.12:144447618:G:A Identity +NM_001375323.1:c.2444G>A NP_001362252.1:p.Arg815His NC_000006.12:144835892:G:A p.(Arg815His) NC_000006.12:144835892:G:A p.(Arg815His) NC_000006.12:144835892:G:A Identity +NM_001172411.2:c.10G>A NP_001165882.1:p.Glu4Lys NC_000001.11:115651422:G:A p.(Glu4Lys) NC_000001.11:115651422:G:A p.(Glu4Lys) NC_000001.11:115651422:G:A Identity +NM_021074.5:c.59G>T NP_066552.2:p.Arg20Ile NC_000018.10:9117841:G:T p.(Arg20Ile) NC_000018.10:9117841:G:T p.(Arg20Ile) NC_000018.10:9117841:G:T Identity +NM_014388.7:c.319G>A NP_055203.4:p.Asp107Asn NC_000001.11:209830973:G:A p.(Asp107Asn) NC_000001.11:209830973:G:A p.(Asp107Asn) NC_000001.11:209830973:G:A Identity +NM_014388.7:c.710A>G NP_055203.4:p.Lys237Arg NC_000001.11:209836858:A:G p.(Lys237Arg) NC_000001.11:209836858:A:G p.(Lys237Arg) NC_000001.11:209836858:A:G Identity +NM_020368.3:c.1406G>A NP_065101.1:p.Arg469His NC_000004.12:70690082:G:A p.(Arg469His) NC_000004.12:70690082:G:A p.(Arg469His) NC_000004.12:70690082:G:A Identity +NM_007124.3:c.2164C>G NP_009055.2:p.Gln722Glu NC_000006.12:144451460:C:G p.(Gln722Glu) NC_000006.12:144451460:C:G p.(Gln722Glu) NC_000006.12:144451460:C:G Identity +NM_001136474.3:c.472C>T NP_001129946.1:p.Arg158Trp NC_000001.11:212972748:C:T p.(Arg158Trp) NC_000001.11:212972748:C:T p.(Arg158Trp) NC_000001.11:212972748:C:T Identity +NM_012476.3:c.559G>A NP_036608.1:p.Glu187Lys NC_000002.12:70932889:G:A p.(Glu187Lys) NC_000002.12:70932889:G:A p.(Glu187Lys) NC_000002.12:70932889:G:A Identity +NM_001018037.2:c.3368C>T NP_001018047.1:p.Thr1123Met NC_000009.12:77293485:C:T p.(Thr1123Met) NC_000009.12:77293485:C:T p.(Thr1123Met) NC_000009.12:77293485:C:T Identity +NM_015378.4:c.1475G>A NP_056193.2:p.Arg492Gln NC_000001.11:12261960:G:A p.(Arg492Gln) NC_000001.11:12261960:G:A p.(Arg492Gln) NC_000001.11:12261960:G:A Identity +NM_015378.4:c.9127C>T NP_056193.2:p.Arg3043Trp NC_000001.11:12348879:C:T p.(Arg3043Trp) NC_000001.11:12348879:C:T p.(Arg3043Trp) NC_000001.11:12348879:C:T Identity +NM_001352088.2:c.2309C>T NP_001339017.1:p.Ala770Val NC_000012.12:95300572:C:T p.(Ala770Val) NC_000012.12:95300572:C:T p.(Ala770Val) NC_000012.12:95300572:C:T Identity +NM_006295.3:c.3706C>T NP_006286.1:p.Gln1236Ter NC_000006.12:31778986:G:A p.(Gln1236Ter) NC_000006.12:31778986:G:A p.(Gln1236Ter) NC_000006.12:31778986:G:A Identity +NM_138440.3:c.131C>A NP_612449.2:p.Thr44Asn NC_000016.10:4381007:C:A p.(Thr44Asn) NC_000016.10:4381007:C:A p.(Thr44Asn) NC_000016.10:4381007:C:A Identity +NM_012476.3:c.862G>C NP_036608.1:p.Ala288Pro NC_000002.12:70933192:G:C p.(Ala288Pro) NC_000002.12:70933192:G:C p.(Ala288Pro) NC_000002.12:70933192:G:C Identity +NM_016378.3:c.374C>T NP_057462.2:p.Thr125Ile NC_000023.11:8170077:G:A p.(Thr125Ile) NC_000023.11:8170077:G:A p.(Thr125Ile) NC_000023.11:8170077:G:A Identity +NM_001401008.1:c.637G>A NP_001387937.1:p.Gly213Arg NC_000005.10:133975935:C:T p.(Gly213Arg) NC_000005.10:133975935:C:T p.(Gly213Arg) NC_000005.10:133975935:C:T Identity +NM_001025366.3:c.954A>T NP_001020537.2:p.Arg318Ser NC_000006.12:43778909:A:T p.(Arg318Ser) NC_000006.12:43778909:A:T p.(Arg318Ser) NC_000006.12:43778909:A:T Identity +NM_182645.3:c.757C>G NP_872586.1:p.Arg253Gly NC_000006.12:117270907:C:G p.(Arg253Gly) NC_000006.12:117270907:C:G p.(Arg253Gly) NC_000006.12:117270907:C:G Identity +NM_001128219.3:c.464C>T NP_001121691.1:p.Ser155Leu NC_000003.12:11564827:G:A p.(Ser155Leu) NC_000003.12:11564827:G:A p.(Ser155Leu) NC_000003.12:11564827:G:A Identity +NM_001370264.1:c.1703A>G NP_001357193.1:p.Asn568Ser NC_000003.12:38006455:A:G p.(Asn568Ser) NC_000003.12:38006455:A:G p.(Asn568Ser) NC_000003.12:38006455:A:G Identity +NM_003380.5:c.1343A>G NP_003371.2:p.Glu448Gly NC_000010.11:17236362:A:G p.(Glu448Gly) NC_000010.11:17236362:A:G p.(Glu448Gly) NC_000010.11:17236362:A:G Identity +NM_015496.5:c.1142C>A NP_056311.2:p.Ala381Asp NC_000008.11:94527101:G:T p.(Ala381Asp) NC_000008.11:94527101:G:T p.(Ala381Asp) NC_000008.11:94527101:G:T Identity +NM_022575.4:c.812G>A NP_072097.2:p.Cys271Tyr NC_000020.11:2861616:G:A p.(Cys271Tyr) NC_000020.11:2861616:G:A p.(Cys271Tyr) NC_000020.11:2861616:G:A Identity +NM_001018056.3:c.1075G>A NP_001018066.1:p.Glu359Lys NC_000009.12:2644741:G:A p.(Glu359Lys) NC_000009.12:2644741:G:A p.(Glu359Lys) NC_000009.12:2644741:G:A Identity +NM_001018037.2:c.3962G>A NP_001018047.1:p.Ser1321Asn NC_000009.12:77308062:G:A p.(Ser1321Asn) NC_000009.12:77308062:G:A p.(Ser1321Asn) NC_000009.12:77308062:G:A Identity +NM_001018037.2:c.5323A>C NP_001018047.1:p.Ile1775Leu NC_000009.12:77321192:A:C p.(Ile1775Leu) NC_000009.12:77321192:A:C p.(Ile1775Leu) NC_000009.12:77321192:A:C Identity +NM_001018037.2:c.5330A>G NP_001018047.1:p.Glu1777Gly NC_000009.12:77321199:A:G p.(Glu1777Gly) NC_000009.12:77321199:A:G p.(Glu1777Gly) NC_000009.12:77321199:A:G Identity +NM_022834.5:c.838G>T NP_073745.2:p.Asp280Tyr NC_000001.11:1439286:G:T p.(Asp280Tyr) NC_000001.11:1439286:G:T p.(Asp280Tyr) NC_000001.11:1439286:G:T Identity +NM_001345864.2:c.1738G>C NP_001332793.1:p.Glu580Gln NC_000002.12:98250410:G:C p.(Glu580Gln) NC_000002.12:98250410:G:C p.(Glu580Gln) NC_000002.12:98250410:G:C Identity +NM_001039500.3:c.2414C>T NP_001034589.2:p.Pro805Leu NC_000001.11:20343180:C:T p.(Pro805Leu) NC_000001.11:20343180:C:T p.(Pro805Leu) NC_000001.11:20343180:C:T Identity +NM_001320373.3:c.643G>A NP_001307302.1:p.Val215Met NC_000003.12:184236429:G:A p.(Val215Met) NC_000003.12:184236429:G:A p.(Val215Met) NC_000003.12:184236429:G:A Identity +NM_001320373.3:c.2072C>T NP_001307302.1:p.Thr691Ile NC_000003.12:184240021:C:T p.(Thr691Ile) NC_000003.12:184240021:C:T p.(Thr691Ile) NC_000003.12:184240021:C:T Identity +NM_017890.5:c.6085A>G NP_060360.3:p.Ile2029Val NC_000008.11:99661454:A:G p.(Ile2029Val) NC_000008.11:99661454:A:G p.(Ile2029Val) NC_000008.11:99661454:A:G Identity +NM_001164507.2:c.1207G>A NP_001157979.2:p.Glu403Lys NC_000002.12:151697593:C:T p.(Glu403Lys) NC_000002.12:151697593:C:T p.(Glu403Lys) NC_000002.12:151697593:C:T Identity +NM_001164507.2:c.19327G>A NP_001157979.2:p.Glu6443Lys NC_000002.12:151555031:C:T p.(Glu6443Lys) NC_000002.12:151555031:C:T p.(Glu6443Lys) NC_000002.12:151555031:C:T Identity +NM_001279354.2:c.442G>C NP_001266283.1:p.Ala148Pro NC_000001.11:150077204:G:C p.(Ala148Pro) NC_000001.11:150077204:G:C p.(Ala148Pro) NC_000001.11:150077204:G:C Identity +NM_001331021.1:c.68T>C NP_001317950.1:p.Ile23Thr NC_000021.9:37238598:A:G p.(Ile23Thr) NC_000021.9:37238598:A:G p.(Ile23Thr) NC_000021.9:37238598:A:G Identity +NM_001300743.3:c.2177G>A NP_001287672.2:p.Arg726His NC_000016.10:19682318:G:A p.(Arg726His) NC_000016.10:19682318:G:A p.(Arg726His) NC_000016.10:19682318:G:A Identity +NM_001128159.3:c.2011G>T NP_001121631.1:p.Ala671Ser NC_000017.11:537031:C:A p.(Ala671Ser) NC_000017.11:537031:C:A p.(Ala671Ser) NC_000017.11:537031:C:A Identity +NM_001271087.2:c.692A>C NP_001258016.1:p.Asn231Thr NC_000001.11:151178015:T:G p.(Asn231Thr) NC_000001.11:151178015:T:G p.(Asn231Thr) NC_000001.11:151178015:T:G Identity +NM_004184.4:c.967G>A NP_004175.2:p.Val323Ile NC_000014.9:100342543:C:T p.(Val323Ile) NC_000014.9:100342543:C:T p.(Val323Ile) NC_000014.9:100342543:C:T Identity +NM_001378090.1:c.77G>A NP_001365019.1:p.Arg26Gln NC_000009.12:24922:C:T p.(Arg26Gln) NC_000009.12:24922:C:T p.(Arg26Gln) NC_000009.12:24922:C:T Identity +NM_001288791.2:c.373G>A NP_001275720.1:p.Ala125Thr NC_000019.10:54041034:C:T p.(Ala125Thr) NC_000019.10:54041034:C:T p.(Ala125Thr) NC_000019.10:54041034:C:T Identity +NM_001130142.2:c.940A>T NP_001123614.1:p.Ile314Phe NC_000011.10:124123374:A:T p.(Ile314Phe) NC_000011.10:124123374:A:T p.(Ile314Phe) NC_000011.10:124123374:A:T Identity +NM_016208.4:c.575C>T NP_057292.1:p.Ala192Val NC_000008.11:144423895:G:A p.(Ala192Val) NC_000008.11:144423895:G:A p.(Ala192Val) NC_000008.11:144423895:G:A Identity +NM_018228.3:c.977G>A NP_060698.2:p.Arg326Gln NC_000014.9:74357759:G:A p.(Arg326Gln) NC_000014.9:74357759:G:A p.(Arg326Gln) NC_000014.9:74357759:G:A Identity +NM_173615.5:c.346G>A NP_775886.3:p.Val116Met NC_000016.10:22100313:G:A p.(Val116Met) NC_000016.10:22100313:G:A p.(Val116Met) NC_000016.10:22100313:G:A Identity +NM_144992.5:c.242A>G NP_659429.4:p.Asp81Gly NC_000002.12:98115696:A:G p.(Asp81Gly) NC_000002.12:98115696:A:G p.(Asp81Gly) NC_000002.12:98115696:A:G Identity +NM_001169106.2:c.96C>A NP_001162577.1:p.Ser32Arg NC_000010.11:45727508:C:A p.(Ser32Arg) NC_000010.11:45727508:C:A p.(Ser32Arg) NC_000010.11:45727508:C:A Identity +NM_016312.3:c.868C>T NP_057396.1:p.His290Tyr NC_000012.12:14793775:G:A p.(His290Tyr) NC_000012.12:14793775:G:A p.(His290Tyr) NC_000012.12:14793775:G:A Identity +NM_152718.2:c.173C>T NP_689931.2:p.Ala58Val NC_000011.10:61291513:G:A p.(Ala58Val) NC_000011.10:61291513:G:A p.(Ala58Val) NC_000011.10:61291513:G:A Identity +NM_001130480.2:c.724C>T NP_001123952.1:p.Arg242Trp NC_000002.12:58131854:C:T p.(Arg242Trp) NC_000002.12:58131854:C:T p.(Arg242Trp) NC_000002.12:58131854:C:T Identity +NM_001146339.2:c.779G>T NP_001139811.1:p.Arg260Leu NC_000019.10:29563854:G:T p.(Arg260Leu) NC_000019.10:29563854:G:T p.(Arg260Leu) NC_000019.10:29563854:G:T Identity +NM_001256271.2:c.17C>T NP_001243200.1:p.Ser6Leu NC_000020.11:25082079:G:A p.(Ser6Leu) NC_000020.11:25082079:G:A p.(Ser6Leu) NC_000020.11:25082079:G:A Identity +NM_022834.5:c.1303G>A NP_073745.2:p.Ala435Thr NC_000001.11:1439751:G:A p.(Ala435Thr) NC_000001.11:1439751:G:A p.(Ala435Thr) NC_000001.11:1439751:G:A Identity +NM_025258.3:c.1408G>A NP_079534.2:p.Ala470Thr NC_000006.12:31769112:C:T p.(Ala470Thr) NC_000006.12:31769112:C:T p.(Ala470Thr) NC_000006.12:31769112:C:T Identity +NM_198570.5:c.26T>G NP_940972.2:p.Val9Gly NC_000007.14:49775460:T:G p.(Val9Gly) NC_000007.14:49775460:T:G p.(Val9Gly) NC_000007.14:49775460:T:G Identity +NM_152718.2:c.544A>G NP_689931.2:p.Thr182Ala NC_000011.10:61282902:T:C p.(Thr182Ala) NC_000011.10:61282902:T:C p.(Thr182Ala) NC_000011.10:61282902:T:C Identity +NM_001135924.3:c.4529C>G NP_001129396.1:p.Ser1510Cys NC_000007.14:12337016:G:C p.(Ser1510Cys) NC_000007.14:12337016:G:C p.(Ser1510Cys) NC_000007.14:12337016:G:C Identity +NM_001164507.2:c.3872T>A NP_001157979.2:p.Ile1291Lys NC_000002.12:151675293:A:T p.(Ile1291Lys) NC_000002.12:151675293:A:T p.(Ile1291Lys) NC_000002.12:151675293:A:T Identity +NM_001318328.2:c.1519A>G NP_001305257.1:p.Asn507Asp NC_000010.11:86499723:T:C p.(Asn507Asp) NC_000010.11:86499723:T:C p.(Asn507Asp) NC_000010.11:86499723:T:C Identity +NM_001161476.3:c.320T>C NP_001154948.1:p.Phe107Ser NC_000014.9:100381243:T:C p.(Phe107Ser) NC_000014.9:100381243:T:C p.(Phe107Ser) NC_000014.9:100381243:T:C Identity +NM_001202550.2:c.178C>T NP_001189479.1:p.Pro60Ser NC_000006.12:169688827:G:A p.(Pro60Ser) NC_000006.12:169688827:G:A p.(Pro60Ser) NC_000006.12:169688827:G:A Identity +NM_001202550.2:c.1949G>A NP_001189479.1:p.Arg650His NC_000006.12:169602312:C:T p.(Arg650His) NC_000006.12:169602312:C:T p.(Arg650His) NC_000006.12:169602312:C:T Identity +NM_001169107.2:c.2480G>C NP_001162578.1:p.Arg827Thr NC_000010.11:45785524:G:C p.(Arg827Thr) NC_000010.11:45785524:G:C p.(Arg827Thr) NC_000010.11:45785524:G:C Identity +NM_001293640.2:c.1384T>C NP_001280569.1:p.Tyr462His NC_000012.12:105137939:T:C p.(Tyr462His) NC_000012.12:105137939:T:C p.(Tyr462His) NC_000012.12:105137939:T:C Identity +NM_001370153.1:c.1913G>A NP_001357082.1:p.Arg638His NC_000010.11:48743001:G:A p.(Arg638His) NC_000010.11:48743001:G:A p.(Arg638His) NC_000010.11:48743001:G:A Identity +NM_001135924.3:c.2541T>G NP_001129396.1:p.Asp847Glu NC_000007.14:12369764:A:C p.(Asp847Glu) NC_000007.14:12369764:A:C p.(Asp847Glu) NC_000007.14:12369764:A:C Identity +NM_001378090.1:c.764G>C NP_001365019.1:p.Gly255Ala NC_000009.12:17083:C:G p.(Gly255Ala) NC_000009.12:17083:C:G p.(Gly255Ala) NC_000009.12:17083:C:G Identity +NM_001005751.3:c.3907A>G NP_001005751.1:p.Ile1303Val NC_000010.11:50132825:A:G p.(Ile1303Val) NC_000010.11:50132825:A:G p.(Ile1303Val) NC_000010.11:50132825:A:G Identity +NM_001301107.1:c.244G>C NP_001288036.1:p.Val82Leu NC_000012.12:102044184:C:G p.(Val82Leu) NC_000012.12:102044184:C:G p.(Val82Leu) NC_000012.12:102044184:C:G Identity +NM_001293640.2:c.1004A>C NP_001280569.1:p.Lys335Thr NC_000012.12:105126327:A:C p.(Lys335Thr) NC_000012.12:105126327:A:C p.(Lys335Thr) NC_000012.12:105126327:A:C Identity +NM_001293640.2:c.2233G>T NP_001280569.1:p.Ala745Ser NC_000012.12:105144767:G:T p.(Ala745Ser) NC_000012.12:105144767:G:T p.(Ala745Ser) NC_000012.12:105144767:G:T Identity +NM_001164267.2:c.1478A>G NP_001157739.1:p.Lys493Arg NC_000006.12:33279590:T:C p.(Lys493Arg) NC_000006.12:33279590:T:C p.(Lys493Arg) NC_000006.12:33279590:T:C Identity +NM_001367482.1:c.2777C>G NP_001354411.1:p.Thr926Arg NC_000001.11:241787919:C:G p.(Thr926Arg) NC_000001.11:241787919:C:G p.(Thr926Arg) NC_000001.11:241787919:C:G Identity +NM_001394531.1:c.6427A>T NP_001381460.1:p.Ile2143Phe NC_000010.11:48830785:A:T p.(Ile2143Phe) NC_000010.11:48830785:A:T p.(Ile2143Phe) NC_000010.11:48830785:A:T Identity +NM_001166426.3:c.109G>A NP_001159898.1:p.Glu37Lys NC_000023.11:48599454:G:A p.(Glu37Lys) NC_000023.11:48599454:G:A p.(Glu37Lys) NC_000023.11:48599454:G:A Identity +NM_006784.3:c.1696G>A NP_006775.1:p.Val566Met NC_000001.11:117950079:G:A p.(Val566Met) NC_000001.11:117950079:G:A p.(Val566Met) NC_000001.11:117950079:G:A Identity +NM_001378090.1:c.868G>A NP_001365019.1:p.Glu290Lys NC_000009.12:16979:C:T p.(Glu290Lys) NC_000009.12:16979:C:T p.(Glu290Lys) NC_000009.12:16979:C:T Identity +NM_007187.5:c.464G>T NP_009118.1:p.Gly155Val NC_000013.11:41071550:G:T p.(Gly155Val) NC_000013.11:41071550:G:T p.(Gly155Val) NC_000013.11:41071550:G:T Identity +NM_001164507.2:c.7243G>C NP_001157979.2:p.Asp2415His NC_000002.12:151650363:C:G p.(Asp2415His) NC_000002.12:151650363:C:G p.(Asp2415His) NC_000002.12:151650363:C:G Identity +NM_001202550.2:c.859G>A NP_001189479.1:p.Val287Met NC_000006.12:169659164:C:T p.(Val287Met) NC_000006.12:169659164:C:T p.(Val287Met) NC_000006.12:169659164:C:T Identity +NM_001202550.2:c.1967C>T NP_001189479.1:p.Pro656Leu NC_000006.12:169602294:G:A p.(Pro656Leu) NC_000006.12:169602294:G:A p.(Pro656Leu) NC_000006.12:169602294:G:A Identity +NM_182552.5:c.587C>T NP_872358.4:p.Pro196Leu NC_000006.12:169668054:G:A p.(Pro196Leu) NC_000006.12:169668054:G:A p.(Pro196Leu) NC_000006.12:169668054:G:A Identity +NM_001163809.2:c.3203C>G NP_001157281.1:p.Thr1068Arg NC_000017.11:1728161:C:G p.(Thr1068Arg) NC_000017.11:1728161:C:G p.(Thr1068Arg) NC_000017.11:1728161:C:G Identity +NM_001145277.2:c.779A>G NP_001138749.1:p.Lys260Arg NC_000001.11:16458952:A:G p.(Lys260Arg) NC_000001.11:16458952:A:G p.(Lys260Arg) NC_000001.11:16458952:A:G Identity +NM_145294.5:c.2966C>T NP_660337.3:p.Ala989Val NC_000016.10:658965:C:T p.(Ala989Val) NC_000016.10:658965:C:T p.(Ala989Val) NC_000016.10:658965:C:T Identity +NM_145294.5:c.481G>A NP_660337.3:p.Gly161Ser NC_000016.10:650630:G:A p.(Gly161Ser) NC_000016.10:650630:G:A p.(Gly161Ser) NC_000016.10:650630:G:A Identity +NM_001394531.1:c.8974G>C NP_001381460.1:p.Val2992Leu NC_000010.11:48974906:G:C p.(Val2992Leu) NC_000010.11:48974906:G:C p.(Val2992Leu) NC_000010.11:48974906:G:C Identity +NM_001350727.2:c.229A>G NP_001337656.1:p.Ser77Gly NC_000004.12:176115900:A:G p.(Ser77Gly) NC_000004.12:176115900:A:G p.(Ser77Gly) NC_000004.12:176115900:A:G Identity +NM_006784.3:c.2738G>A NP_006775.1:p.Ser913Asn NC_000001.11:117959352:G:A p.(Ser913Asn) NC_000001.11:117959352:G:A p.(Ser913Asn) NC_000001.11:117959352:G:A Identity +NM_001006657.2:c.2208A>C NP_001006658.1:p.Lys736Asn NC_000002.12:19937834:T:G p.(Lys736Asn) NC_000002.12:19937834:T:G p.(Lys736Asn) NC_000002.12:19937834:T:G Identity +NM_001329748.1:c.497C>T NP_001316677.1:p.Thr166Ile NC_000016.10:83990530:C:T p.(Thr166Ile) NC_000016.10:83990530:C:T p.(Thr166Ile) NC_000016.10:83990530:C:T Identity +NM_001184965.2:c.1600G>T NP_001171894.1:p.Val534Leu NC_000023.11:118409554:G:T p.(Val534Leu) NC_000023.11:118409554:G:T p.(Val534Leu) NC_000023.11:118409554:G:T Identity +NM_001135175.2:c.790A>G NP_001128647.1:p.Met264Val NC_000012.12:96936659:A:G p.(Met264Val) NC_000012.12:96936659:A:G p.(Met264Val) NC_000012.12:96936659:A:G Identity +NM_053284.3:c.43C>T NP_444514.1:p.Arg15Trp NC_000016.10:631295:C:T p.(Arg15Trp) NC_000016.10:631295:C:T p.(Arg15Trp) NC_000016.10:631295:C:T Identity +NM_001330395.4:c.1765G>A NP_001317324.2:p.Val589Met NC_000019.10:15425501:C:T p.(Val589Met) NC_000019.10:15425501:C:T p.(Val589Met) NC_000019.10:15425501:C:T Identity +NM_001307977.1:c.623G>A NP_001294906.1:p.Arg208His NC_000011.10:62834522:C:T p.(Arg208His) NC_000011.10:62834522:C:T p.(Arg208His) NC_000011.10:62834522:C:T Identity +NM_001163673.2:c.731C>T NP_001157145.1:p.Pro244Leu NC_000017.11:1732681:C:T p.(Pro244Leu) NC_000017.11:1732681:C:T p.(Pro244Leu) NC_000017.11:1732681:C:T Identity +NM_145294.5:c.2385C>G NP_660337.3:p.Asp795Glu NC_000016.10:657132:C:G p.(Asp795Glu) NC_000016.10:657132:C:G p.(Asp795Glu) NC_000016.10:657132:C:G Identity +NM_145294.5:c.172C>T NP_660337.3:p.Pro58Ser NC_000016.10:650059:C:T p.(Pro58Ser) NC_000016.10:650059:C:T p.(Pro58Ser) NC_000016.10:650059:C:T Identity +NM_145294.5:c.3362G>A NP_660337.3:p.Arg1121Gln NC_000016.10:660684:G:A p.(Arg1121Gln) NC_000016.10:660684:G:A p.(Arg1121Gln) NC_000016.10:660684:G:A Identity +NM_001321299.2:c.1972C>T NP_001308228.1:p.Arg658Trp NC_000017.11:42795478:C:T p.(Arg658Trp) NC_000017.11:42795478:C:T p.(Arg658Trp) NC_000017.11:42795478:C:T Identity +NM_016087.2:c.919G>A NP_057171.2:p.Ala307Thr NC_000007.14:121339195:G:A p.(Ala307Thr) NC_000007.14:121339195:G:A p.(Ala307Thr) NC_000007.14:121339195:G:A Identity +NM_001291088.2:c.4058A>G NP_001278017.1:p.Lys1353Arg NC_000019.10:37889612:T:C p.(Lys1353Arg) NC_000019.10:37889612:T:C p.(Lys1353Arg) NC_000019.10:37889612:T:C Identity +NM_001077269.1:c.637C>T NP_001070737.1:p.Pro213Ser NC_000002.12:174572167:G:A p.(Pro213Ser) NC_000002.12:174572167:G:A p.(Pro213Ser) NC_000002.12:174572167:G:A Identity +NM_001184985.2:c.5360A>G NP_001171914.1:p.His1787Arg NC_000012.12:885383:A:G p.(His1787Arg) NC_000012.12:885383:A:G p.(His1787Arg) NC_000012.12:885383:A:G Identity +NM_001284395.2:c.19A>T NP_001271324.1:p.Ser7Cys NC_000015.10:89701764:A:T p.(Ser7Cys) NC_000015.10:89701764:A:T p.(Ser7Cys) NC_000015.10:89701764:A:T Identity +NM_001330341.2:c.112G>A NP_001317270.1:p.Val38Met NC_000017.11:50839678:G:A p.(Val38Met) NC_000017.11:50839678:G:A p.(Val38Met) NC_000017.11:50839678:G:A Identity +NM_007191.5:c.1085C>T NP_009122.2:p.Ser362Leu NC_000012.12:65051403:G:A p.(Ser362Leu) NC_000012.12:65051403:G:A p.(Ser362Leu) NC_000012.12:65051403:G:A Identity +NM_000379.4:c.3971A>G NP_000370.2:p.Glu1324Gly NC_000002.12:31335988:T:C p.(Glu1324Gly) NC_000002.12:31335988:T:C p.(Glu1324Gly) NC_000002.12:31335988:T:C Identity +NM_001351377.2:c.1085C>T NP_001338306.1:p.Thr362Ile NC_000003.12:39184409:G:A p.(Thr362Ile) NC_000003.12:39184409:G:A p.(Thr362Ile) NC_000003.12:39184409:G:A Identity +NM_021076.4:c.740G>A NP_066554.2:p.Gly247Asp NC_000022.11:29481001:G:A p.(Gly247Asp) NC_000022.11:29481001:G:A p.(Gly247Asp) NC_000022.11:29481001:G:A Identity +NM_175575.6:c.88C>T NP_783165.1:p.Pro30Ser NC_000017.11:50836024:C:T p.(Pro30Ser) NC_000017.11:50836024:C:T p.(Pro30Ser) NC_000017.11:50836024:C:T Identity +NM_001145853.1:c.886A>G NP_001139325.1:p.Ile296Val NC_000004.12:6300680:A:G p.(Ile296Val) NC_000004.12:6300680:A:G p.(Ile296Val) NC_000004.12:6300680:A:G Identity +NM_001080435.3:c.2029C>T NP_001073904.1:p.Arg677Trp NC_000015.10:82830985:C:T p.(Arg677Trp) NC_000015.10:82830985:C:T p.(Arg677Trp) NC_000015.10:82830985:C:T Identity +NM_001184985.2:c.4105C>T NP_001171914.1:p.Arg1369Cys NC_000012.12:882025:C:T p.(Arg1369Cys) NC_000012.12:882025:C:T p.(Arg1369Cys) NC_000012.12:882025:C:T Identity +NM_025216.3:c.729G>C NP_079492.2:p.Arg243Ser NC_000002.12:218890335:G:C p.(Arg243Ser) NC_000002.12:218890335:G:C p.(Arg243Ser) NC_000002.12:218890335:G:C Identity +NM_017818.4:c.1055T>C NP_060288.3:p.Ile352Thr NC_000001.11:3631650:A:G p.(Ile352Thr) NC_000001.11:3631650:A:G p.(Ile352Thr) NC_000001.11:3631650:A:G Identity +NM_001282394.3:c.6200G>A NP_001269323.1:p.Ser2067Asn NC_000009.12:93299234:G:A p.(Ser2067Asn) NC_000009.12:93299234:G:A p.(Ser2067Asn) NC_000009.12:93299234:G:A Identity +NM_001011720.2:c.549A>C NP_001011720.1:p.Gln183His NC_000008.11:70733850:A:C p.(Gln183His) NC_000008.11:70733850:A:C p.(Gln183His) NC_000008.11:70733850:A:C Identity +NM_001131022.1:c.11A>G NP_001124494.1:p.Lys4Arg NC_000005.10:83104929:A:G ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found +NM_001282857.2:c.4903C>T NP_001269786.1:p.Arg1635Trp NC_000003.12:142311692:G:A p.(Arg1635Trp) NC_000003.12:142311692:G:A p.(Arg1635Trp) NC_000003.12:142311692:G:A Identity +NM_001308069.2:c.268C>T NP_001294998.1:p.Arg90Trp NC_000003.12:195156527:G:A p.(Arg90Trp) NC_000003.12:195156527:G:A p.(Arg90Trp) NC_000003.12:195156527:G:A Identity +NM_015691.5:c.2187C>G NP_056506.3:p.Ile729Met NC_000023.11:10124324:C:G p.(His729Gln) NC_000023.11:10124327:C:G p.(His729Gln) NC_000023.11:10124327:C:G Different +NM_020196.3:c.2392G>A NP_064581.2:p.Val798Met NC_000019.10:7619949:C:T p.(Val798Met) NC_000019.10:7619949:C:T p.(Val798Met) NC_000019.10:7619949:C:T Identity +NM_001024644.2:c.44A>G NP_001019815.1:p.Tyr15Cys NC_000003.12:46021903:T:C p.(Tyr15Cys) NC_000003.12:46021903:T:C p.(Tyr15Cys) NC_000003.12:46021903:T:C Identity +NM_001198621.4:c.157G>A NP_001185550.1:p.Glu53Lys NC_000003.12:39189288:C:T p.(Glu53Lys) NC_000003.12:39189288:C:T p.(Glu53Lys) NC_000003.12:39189288:C:T Identity +NM_021076.4:c.2716C>T NP_066554.2:p.Pro906Ser NC_000022.11:29490355:C:T p.(Pro906Ser) NC_000022.11:29490355:C:T p.(Pro906Ser) NC_000022.11:29490355:C:T Identity +NM_001199144.2:c.8375A>G NP_001186073.1:p.His2792Arg NC_000002.12:167250432:A:G p.(His2792Arg) NC_000002.12:167250432:A:G p.(His2792Arg) NC_000002.12:167250432:A:G Identity +NM_030775.2:c.997C>T NP_110402.2:p.Arg333Cys NC_000012.12:1646168:C:T p.(Arg333Cys) NC_000012.12:1646168:C:T p.(Arg333Cys) NC_000012.12:1646168:C:T Identity +NM_001304447.2:c.1024C>A NP_001291376.1:p.Gln342Lys NC_000012.12:108232774:C:A p.(Gln342Lys) NC_000012.12:108232774:C:A p.(Gln342Lys) NC_000012.12:108232774:C:A Identity +NM_001351377.2:c.350A>T NP_001338306.1:p.Asp117Val NC_000003.12:39185144:T:A p.(Asp117Val) NC_000003.12:39185144:T:A p.(Asp117Val) NC_000003.12:39185144:T:A Identity +NM_001198621.4:c.467C>G NP_001185550.1:p.Ala156Gly NC_000003.12:39188978:G:C p.(Ala156Gly) NC_000003.12:39188978:G:C p.(Ala156Gly) NC_000003.12:39188978:G:C Identity +NM_001199144.2:c.9367G>A NP_001186073.1:p.Val3123Ile NC_000002.12:167251424:G:A p.(Val3123Ile) NC_000002.12:167251424:G:A p.(Val3123Ile) NC_000002.12:167251424:G:A Identity +NM_001079810.4:c.1010C>A NP_001073278.1:p.Ala337Glu NC_000002.12:167240703:C:A p.(Ala337Glu) NC_000002.12:167240703:C:A p.(Ala337Glu) NC_000002.12:167240703:C:A Identity +NM_001135746.3:c.103G>A NP_001129218.1:p.Ala35Thr NC_000008.11:11771549:G:A p.(Ala35Thr) NC_000008.11:11771549:G:A p.(Ala35Thr) NC_000008.11:11771549:G:A Identity +NM_003680.4:c.940G>A NP_003671.1:p.Glu314Lys NC_000001.11:32782505:C:T p.(Glu314Lys) NC_000001.11:32782505:C:T p.(Glu314Lys) NC_000001.11:32782505:C:T Identity +NM_001039671.3:c.394G>T NP_001034760.1:p.Ala132Ser NC_000019.10:38309020:C:A p.(Ala132Ser) NC_000019.10:38309020:C:A p.(Ala132Ser) NC_000019.10:38309020:C:A Identity +NM_001195214.2:c.397C>A NP_001182143.1:p.Pro133Thr NC_000023.11:68522850:C:A p.(Pro133Thr) NC_000023.11:68522850:C:A p.(Pro133Thr) NC_000023.11:68522850:C:A Identity +NM_003399.6:c.593C>T NP_003390.4:p.Pro198Leu NC_000023.11:129747708:C:T p.(Pro198Leu) NC_000023.11:129747708:C:T p.(Pro198Leu) NC_000023.11:129747708:C:T Identity +NM_001270940.2:c.1549G>C NP_001257869.1:p.Val517Leu NC_000016.10:28132348:C:G p.(Val517Leu) NC_000016.10:28132348:C:G p.(Val517Leu) NC_000016.10:28132348:C:G Identity +NM_015691.5:c.3053C>A NP_056506.3:p.Ala1018Asp NC_000023.11:10134510:C:A ERR:TranscriptMismatch:expected C, found G at transcript indices 3377..3378 NC_000023.11:10134513:G:A ERR:NM_015691.5:c.3053C>A: Variant reference (C) does not agree with reference sequence (G) ERR:NM_015691.5:c.3053C>A: Variant reference (C) does not agree with reference sequence (G) Unknown +NM_001168278.3:c.500A>G NP_001161750.1:p.Asn167Ser NC_000003.12:149572931:T:C p.(Asn167Ser) NC_000003.12:149572931:T:C p.(Asn167Ser) NC_000003.12:149572931:T:C Identity +NM_000379.4:c.3976T>C NP_000370.2:p.Cys1326Arg NC_000002.12:31335983:A:G p.(Cys1326Arg) NC_000002.12:31335983:A:G p.(Cys1326Arg) NC_000002.12:31335983:A:G Identity +NM_001012239.1:c.586G>T NP_001012239.1:p.Val196Leu NC_000008.11:11200753:C:A ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001012239.1, alt_ac=NM_001012239.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001012239.1 not found +NM_020192.5:c.278A>G NP_064577.1:p.His93Arg NC_000007.14:39572302:A:G p.(His93Arg) NC_000007.14:39572302:A:G p.(His93Arg) NC_000007.14:39572302:A:G Identity +NM_001135746.3:c.397G>C NP_001129218.1:p.Val133Leu NC_000008.11:11779855:G:C p.(Val133Leu) NC_000008.11:11779855:G:C p.(Val133Leu) NC_000008.11:11779855:G:C Identity +NM_001011720.2:c.458T>C NP_001011720.1:p.Ile153Thr NC_000008.11:70707117:T:C p.(Ile153Thr) NC_000008.11:70707117:T:C p.(Ile153Thr) NC_000008.11:70707117:T:C Identity +NM_001270940.2:c.2704G>A NP_001257869.1:p.Ala902Thr NC_000016.10:28106080:C:T p.(Ala902Thr) NC_000016.10:28106080:C:T p.(Ala902Thr) NC_000016.10:28106080:C:T Identity +NM_001270940.2:c.440G>A NP_001257869.1:p.Arg147His NC_000016.10:28169832:C:T p.(Arg147His) NC_000016.10:28169832:C:T p.(Arg147His) NC_000016.10:28169832:C:T Identity +NM_001100161.2:c.230C>G NP_001093631.1:p.Pro77Arg NC_000008.11:21969546:C:G p.(Pro77Arg) NC_000008.11:21969546:C:G p.(Pro77Arg) NC_000008.11:21969546:C:G Identity +NM_006297.3:c.869G>A NP_006288.2:p.Arg290Gln NC_000019.10:43552229:C:T p.(Arg290Gln) NC_000019.10:43552229:C:T p.(Arg290Gln) NC_000019.10:43552229:C:T Identity +NM_001131022.1:c.254C>T NP_001124494.1:p.Thr85Met NC_000005.10:83111141:C:T ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001131022.1, alt_ac=NM_001131022.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001131022.1 not found +NM_001282857.2:c.1476A>G NP_001269786.1:p.Ile492Met NC_000003.12:142414251:T:C p.(Ile492Met) NC_000003.12:142414251:T:C p.(Ile492Met) NC_000003.12:142414251:T:C Identity +NM_001282857.2:c.2308T>A NP_001269786.1:p.Trp770Arg NC_000003.12:142397359:A:T p.(Trp770Arg) NC_000003.12:142397359:A:T p.(Trp770Arg) NC_000003.12:142397359:A:T Identity +NM_022167.4:c.2525C>T NP_071450.2:p.Thr842Ile NC_000017.11:50360217:C:T p.(Thr842Ile) NC_000017.11:50360217:C:T p.(Thr842Ile) NC_000017.11:50360217:C:T Identity +NM_001321439.2:c.911C>T NP_001308368.1:p.Ala304Val NC_000019.10:10923330:G:A p.(Ala304Val) NC_000019.10:10923330:G:A p.(Ala304Val) NC_000019.10:10923330:G:A Identity +NM_015388.4:c.436C>T NP_056203.2:p.Pro146Ser NC_000006.12:43513592:G:A p.(Pro146Ser) NC_000006.12:43513592:G:A p.(Pro146Ser) NC_000006.12:43513592:G:A Identity +NM_182592.3:c.361A>G NP_872398.3:p.Met121Val NC_000004.12:44629467:T:C p.(Met121Val) NC_000004.12:44629467:T:C p.(Met121Val) NC_000004.12:44629467:T:C Identity +NM_001363678.2:c.407C>T NP_001350607.1:p.Ala136Val NC_000007.14:44208145:C:T p.(Ala136Val) NC_000007.14:44208145:C:T p.(Ala136Val) NC_000007.14:44208145:C:T Identity +NM_019589.3:c.2839C>T NP_062535.2:p.Leu947Phe NC_000014.9:74798135:C:T p.(Leu947Phe) NC_000014.9:74798135:C:T p.(Leu947Phe) NC_000014.9:74798135:C:T Identity +NM_001411052.1:c.760C>A NP_001397981.1:p.Pro254Thr NC_000014.9:74764248:C:A p.(Pro254Thr) NC_000014.9:74764248:C:A p.(Pro254Thr) NC_000014.9:74764248:C:A Identity +NM_019589.3:c.3005G>A NP_062535.2:p.Arg1002Gln NC_000014.9:74798301:G:A p.(Arg1002Gln) NC_000014.9:74798301:G:A p.(Arg1002Gln) NC_000014.9:74798301:G:A Identity +NM_001253866.2:c.453G>C NP_001240795.1:p.Leu151Phe NC_000010.11:27134969:C:G p.(Leu151Phe) NC_000010.11:27134969:C:G p.(Leu151Phe) NC_000010.11:27134969:C:G Identity +NM_001198903.1:c.175A>G NP_001185832.1:p.Ile59Val NC_000001.11:155688289:T:C p.(Ile59Val) NC_000001.11:155688289:T:C p.(Ile59Val) NC_000001.11:155688289:T:C Identity +NM_001199201.2:c.206C>T NP_001186130.1:p.Ser69Phe NC_000003.12:167365952:G:A p.(Ser69Phe) NC_000003.12:167365952:G:A p.(Ser69Phe) NC_000003.12:167365952:G:A Identity +NM_001146003.2:c.1717G>C NP_001139475.1:p.Ala573Pro NC_000003.12:131349651:G:C p.(Ala573Pro) NC_000003.12:131349651:G:C p.(Ala573Pro) NC_000003.12:131349651:G:C Identity +NM_014838.3:c.650C>T NP_055653.2:p.Pro217Leu NC_000022.11:49884311:C:T p.(Pro217Leu) NC_000022.11:49884311:C:T p.(Pro217Leu) NC_000022.11:49884311:C:T Identity +NM_001146003.2:c.391C>T NP_001139475.1:p.Pro131Ser NC_000003.12:131109856:C:T p.(Pro131Ser) NC_000003.12:131109856:C:T p.(Pro131Ser) NC_000003.12:131109856:C:T Identity +NM_001345975.2:c.703T>C NP_001332904.1:p.Tyr235His NC_000005.10:113539159:T:C p.(Tyr235His) NC_000005.10:113539159:T:C p.(Tyr235His) NC_000005.10:113539159:T:C Identity +NM_001199201.2:c.2386G>A NP_001186130.1:p.Glu796Lys NC_000003.12:167242511:C:T p.(Glu796Lys) NC_000003.12:167242511:C:T p.(Glu796Lys) NC_000003.12:167242511:C:T Identity +NM_001160417.2:c.835G>A NP_001153889.1:p.Glu279Lys NC_000020.11:57611762:C:T p.(Glu279Lys) NC_000020.11:57611762:C:T p.(Glu279Lys) NC_000020.11:57611762:C:T Identity +NM_001199397.3:c.3697G>T NP_001186326.1:p.Val1233Phe NC_000004.12:169400537:C:A p.(Val1233Phe) NC_000004.12:169400537:C:A p.(Val1233Phe) NC_000004.12:169400537:C:A Identity +NM_017798.4:c.212A>G NP_060268.2:p.Asn71Ser NC_000020.11:63203727:T:C p.(Asn71Ser) NC_000020.11:63203727:T:C p.(Asn71Ser) NC_000020.11:63203727:T:C Identity +NM_003386.3:c.5422T>C NP_003377.2:p.Cys1808Arg NC_000007.14:100772016:T:C p.(Cys1808Arg) NC_000007.14:100772016:T:C p.(Cys1808Arg) NC_000007.14:100772016:T:C Identity +NM_001136571.2:c.907C>T NP_001130043.1:p.Arg303Cys NC_000013.11:32303937:G:A p.(Arg303Cys) NC_000013.11:32303937:G:A p.(Arg303Cys) NC_000013.11:32303937:G:A Identity +NM_014838.3:c.1948G>C NP_055653.2:p.Asp650His NC_000022.11:49885609:G:C p.(Asp650His) NC_000022.11:49885609:G:C p.(Asp650His) NC_000022.11:49885609:G:C Identity +NM_003386.3:c.912C>A NP_003377.2:p.His304Gln NC_000007.14:100746682:C:A p.(His304Gln) NC_000007.14:100746682:C:A p.(His304Gln) NC_000007.14:100746682:C:A Identity +NM_014838.3:c.1751G>A NP_055653.2:p.Arg584Gln NC_000022.11:49885412:G:A p.(Arg584Gln) NC_000022.11:49885412:G:A p.(Arg584Gln) NC_000022.11:49885412:G:A Identity +NM_014838.3:c.2884C>T NP_055653.2:p.His962Tyr NC_000022.11:49886545:C:T p.(His962Tyr) NC_000022.11:49886545:C:T p.(His962Tyr) NC_000022.11:49886545:C:T Identity +NM_014383.3:c.121C>G NP_055198.1:p.Pro41Ala NC_000019.10:35714746:C:G p.(Pro41Ala) NC_000019.10:35714746:C:G p.(Pro41Ala) NC_000019.10:35714746:C:G Identity +NM_001083621.2:c.2311T>C NP_001077090.1:p.Cys771Arg NC_000001.11:22511983:T:C p.(Cys771Arg) NC_000001.11:22511983:T:C p.(Cys771Arg) NC_000001.11:22511983:T:C Identity +NM_001164313.2:c.875C>G NP_001157785.1:p.Pro292Arg NC_000006.12:109481151:G:C p.(Pro292Arg) NC_000006.12:109481151:G:C p.(Pro292Arg) NC_000006.12:109481151:G:C Identity +NM_001184742.2:c.458A>G NP_001171671.1:p.Lys153Arg NC_000023.11:120253872:A:G p.(Lys153Arg) NC_000023.11:120253872:A:G p.(Lys153Arg) NC_000023.11:120253872:A:G Identity +NM_001193533.3:c.73C>T NP_001180462.1:p.His25Tyr NC_000003.12:52770673:G:A p.(His25Tyr) NC_000003.12:52770673:G:A p.(His25Tyr) NC_000003.12:52770673:G:A Identity +NM_014872.3:c.305C>G NP_055687.1:p.Ala102Gly NC_000009.12:37442246:G:C p.(Ala102Gly) NC_000009.12:37442246:G:C p.(Ala102Gly) NC_000009.12:37442246:G:C Identity +NM_001366259.1:c.227C>T NP_001353188.1:p.Ser76Leu NC_000001.11:32627526:G:A p.(Ser76Leu) NC_000001.11:32627526:G:A p.(Ser76Leu) NC_000001.11:32627526:G:A Identity +NM_207360.3:c.1302C>G NP_997243.2:p.Asp434Glu NC_000006.12:149450964:G:C p.(Asp434Glu) NC_000006.12:149450964:G:C p.(Asp434Glu) NC_000006.12:149450964:G:C Identity +NM_001242884.2:c.2135C>T NP_001229813.1:p.Thr712Ile NC_000001.11:15941999:G:A p.(Thr712Ile) NC_000001.11:15941999:G:A p.(Thr712Ile) NC_000001.11:15941999:G:A Identity +NM_001363108.2:c.599T>C NP_001350037.1:p.Met200Thr NC_000011.10:62753065:A:G p.(Met200Thr) NC_000011.10:62753065:A:G p.(Met200Thr) NC_000011.10:62753065:A:G Identity +NM_001099270.4:c.968G>A NP_001092740.2:p.Arg323His NC_000009.12:126880366:G:A p.(Arg323His) NC_000009.12:126880366:G:A p.(Arg323His) NC_000009.12:126880366:G:A Identity +NM_001424254.1:c.214A>G NP_001411183.1:p.Ile72Val NC_000013.11:52152619:T:C p.(Ile72Val) NC_000013.11:52152619:T:C p.(Ile72Val) NC_000013.11:52152619:T:C Identity +NM_001128833.2:c.370C>T NP_001122305.1:p.Arg124Trp NC_000017.11:7466431:G:A p.(Arg124Trp) NC_000017.11:7466431:G:A p.(Arg124Trp) NC_000017.11:7466431:G:A Identity +NM_001083621.2:c.94A>G NP_001077090.1:p.Thr32Ala NC_000001.11:22490041:A:G p.(Thr32Ala) NC_000001.11:22490041:A:G p.(Thr32Ala) NC_000001.11:22490041:A:G Identity +NM_001369741.1:c.1618G>T NP_001356670.1:p.Asp540Tyr NC_000020.11:63747081:C:A p.(Asp540Tyr) NC_000020.11:63747081:C:A p.(Asp540Tyr) NC_000020.11:63747081:C:A Identity +NM_001410746.1:c.1744G>A NP_001397675.1:p.Gly582Arg NC_000003.12:42663049:G:A p.(Gly582Arg) NC_000003.12:42663049:G:A p.(Gly582Arg) NC_000003.12:42663049:G:A Identity +NM_001330625.2:c.1738C>T NP_001317554.1:p.Arg580Trp NC_000004.12:4320755:C:T p.(Arg580Trp) NC_000004.12:4320755:C:T p.(Arg580Trp) NC_000004.12:4320755:C:T Identity +NM_001323550.2:c.1153G>T NP_001310479.1:p.Ala385Ser NC_000001.11:37482963:G:T p.(Ala385Ser) NC_000001.11:37482963:G:T p.(Ala385Ser) NC_000001.11:37482963:G:T Identity +NM_207360.3:c.1558G>A NP_997243.2:p.Ala520Thr NC_000006.12:149450708:C:T p.(Ala520Thr) NC_000006.12:149450708:C:T p.(Ala520Thr) NC_000006.12:149450708:C:T Identity +NM_001294340.2:c.1694G>A NP_001281269.1:p.Arg565His NC_000016.10:88622342:G:A p.(Arg565His) NC_000016.10:88622342:G:A p.(Arg565His) NC_000016.10:88622342:G:A Identity +NM_015144.3:c.1493G>A NP_055959.2:p.Arg498Gln NC_000016.10:87414523:C:T p.(Arg498Gln) NC_000016.10:87414523:C:T p.(Arg498Gln) NC_000016.10:87414523:C:T Identity +NM_001411037.1:c.2079C>G NP_001397966.1:p.His693Gln NC_000011.10:110165160:C:G p.(His693Gln) NC_000011.10:110165160:C:G p.(His693Gln) NC_000011.10:110165160:C:G Identity +NM_001410746.1:c.2135G>C NP_001397675.1:p.Arg712Pro NC_000003.12:42664404:G:C p.(Arg712Pro) NC_000003.12:42664404:G:C p.(Arg712Pro) NC_000003.12:42664404:G:C Identity +NM_014872.3:c.791T>C NP_055687.1:p.Phe264Ser NC_000009.12:37441760:A:G p.(Phe264Ser) NC_000009.12:37441760:A:G p.(Phe264Ser) NC_000009.12:37441760:A:G Identity +NM_001042430.3:c.392A>T NP_001035895.1:p.Lys131Ile NC_000014.9:75070964:A:T p.(Lys131Ile) NC_000014.9:75070964:A:T p.(Lys131Ile) NC_000014.9:75070964:A:T Identity +NM_001411037.1:c.343A>G NP_001397966.1:p.Thr115Ala NC_000011.10:110136980:A:G p.(Thr115Ala) NC_000011.10:110136980:A:G p.(Thr115Ala) NC_000011.10:110136980:A:G Identity +NM_198581.3:c.2686T>G NP_940983.2:p.Ser896Ala NC_000002.12:112331603:T:G p.(Ser896Ala) NC_000002.12:112331603:T:G p.(Ser896Ala) NC_000002.12:112331603:T:G Identity +NM_001363491.2:c.2039G>C NP_001350420.1:p.Gly680Ala NC_000007.14:139076309:C:G p.(Gly680Ala) NC_000007.14:139076309:C:G p.(Gly680Ala) NC_000007.14:139076309:C:G Identity +NM_001040432.4:c.505A>C NP_001035522.1:p.Lys169Gln NC_000003.12:28478825:A:C p.(Lys169Gln) NC_000003.12:28478825:A:C p.(Lys169Gln) NC_000003.12:28478825:A:C Identity +NM_001285549.2:c.3412C>T NP_001272478.1:p.Leu1138Phe NC_000002.12:206307945:C:T p.(Leu1138Phe) NC_000002.12:206307945:C:T p.(Leu1138Phe) NC_000002.12:206307945:C:T Identity +NM_015457.3:c.1103C>T NP_056272.2:p.Pro368Leu NC_000011.10:57696853:C:T p.(Pro368Leu) NC_000011.10:57696853:C:T p.(Pro368Leu) NC_000011.10:57696853:C:T Identity +NM_001076788.2:c.811C>G NP_001070256.1:p.Pro271Ala NC_000013.11:46003271:G:C p.(Pro271Ala) NC_000013.11:46003271:G:C p.(Pro271Ala) NC_000013.11:46003271:G:C Identity +NM_001294340.2:c.1486C>T NP_001281269.1:p.Arg496Trp NC_000016.10:88611474:C:T p.(Arg496Trp) NC_000016.10:88611474:C:T p.(Arg496Trp) NC_000016.10:88611474:C:T Identity +NM_015168.2:c.2789G>A NP_055983.1:p.Arg930Gln NC_000019.10:47067478:C:T p.(Arg930Gln) NC_000019.10:47067478:C:T p.(Arg930Gln) NC_000019.10:47067478:C:T Identity +NM_198581.3:c.2708C>A NP_940983.2:p.Pro903His NC_000002.12:112331625:C:A p.(Pro903His) NC_000002.12:112331625:C:A p.(Pro903His) NC_000002.12:112331625:C:A Identity +NM_001363491.2:c.2177C>T NP_001350420.1:p.Thr726Ile NC_000007.14:139073916:G:A p.(Thr726Ile) NC_000007.14:139073916:G:A p.(Thr726Ile) NC_000007.14:139073916:G:A Identity +NM_001363491.2:c.745A>G NP_001350420.1:p.Ser249Gly NC_000007.14:139080195:T:C p.(Ser249Gly) NC_000007.14:139080195:T:C p.(Ser249Gly) NC_000007.14:139080195:T:C Identity +NM_015168.2:c.1625C>T NP_055983.1:p.Pro542Leu NC_000019.10:47072528:G:A p.(Pro542Leu) NC_000019.10:47072528:G:A p.(Pro542Leu) NC_000019.10:47072528:G:A Identity +NM_001363491.2:c.1864A>G NP_001350420.1:p.Thr622Ala NC_000007.14:139078626:T:C p.(Thr622Ala) NC_000007.14:139078626:T:C p.(Thr622Ala) NC_000007.14:139078626:T:C Identity +NM_001185024.2:c.1651T>C NP_001171953.1:p.Ser551Pro NC_000022.11:20143280:T:C p.(Ser551Pro) NC_000022.11:20143280:T:C p.(Ser551Pro) NC_000022.11:20143280:T:C Identity +NM_001170796.1:c.331A>G NP_001164267.1:p.Thr111Ala NC_000008.11:81714830:T:C p.(Thr111Ala) NC_000008.11:81714830:T:C p.(Thr111Ala) NC_000008.11:81714830:T:C Identity +NM_033400.3:c.3133G>A NP_207646.2:p.Val1045Ile NC_000014.9:23527605:C:T p.(Val1045Ile) NC_000014.9:23527605:C:T p.(Val1045Ile) NC_000014.9:23527605:C:T Identity +NM_001393492.1:c.913C>T NP_001380421.1:p.His305Tyr NC_000005.10:840530:G:A p.(His305Tyr) NC_000005.10:840530:G:A p.(His305Tyr) NC_000005.10:840530:G:A Identity +NM_015457.3:c.1040C>T NP_056272.2:p.Pro347Leu NC_000011.10:57696790:C:T p.(Pro347Leu) NC_000011.10:57696790:C:T p.(Pro347Leu) NC_000011.10:57696790:C:T Identity +NM_015457.3:c.308T>C NP_056272.2:p.Met103Thr NC_000011.10:57688588:T:C p.(Met103Thr) NC_000011.10:57688588:T:C p.(Met103Thr) NC_000011.10:57688588:T:C Identity +NM_001001483.3:c.113T>G NP_001001483.1:p.Leu38Arg NC_000011.10:19149314:T:G p.(Leu38Arg) NC_000011.10:19149314:T:G p.(Leu38Arg) NC_000011.10:19149314:T:G Identity +NM_001285549.2:c.2906C>T NP_001272478.1:p.Pro969Leu NC_000002.12:206307439:C:T p.(Pro969Leu) NC_000002.12:206307439:C:T p.(Pro969Leu) NC_000002.12:206307439:C:T Identity +NM_015456.5:c.1307A>G NP_056271.3:p.Asn436Ser NC_000009.12:137267010:A:G p.(Asn436Ser) NC_000009.12:137267010:A:G p.(Asn436Ser) NC_000009.12:137267010:A:G Identity +NM_001320466.2:c.313G>A NP_001307395.1:p.Val105Met NC_000003.12:113953850:G:A p.(Val105Met) NC_000003.12:113953850:G:A p.(Val105Met) NC_000003.12:113953850:G:A Identity +NM_001410904.1:c.287A>G NP_001397833.1:p.Lys96Arg NC_000006.12:38061766:A:G p.(Lys96Arg) NC_000006.12:38061766:A:G p.(Lys96Arg) NC_000006.12:38061766:A:G Identity +NM_001185024.2:c.1607C>T NP_001171953.1:p.Pro536Leu NC_000022.11:20143236:C:T p.(Pro536Leu) NC_000022.11:20143236:C:T p.(Pro536Leu) NC_000022.11:20143236:C:T Identity +NM_001128324.2:c.485G>A NP_001121796.1:p.Gly162Asp NC_000010.11:45648377:C:T p.(Gly162Asp) NC_000010.11:45648377:C:T p.(Gly162Asp) NC_000010.11:45648377:C:T Identity +NM_001029939.4:c.133C>T NP_001025110.2:p.Pro45Ser NC_000008.11:134657587:G:A p.(Pro45Ser) NC_000008.11:134657587:G:A p.(Pro45Ser) NC_000008.11:134657587:G:A Identity +NM_033400.3:c.4256G>T NP_207646.2:p.Gly1419Val NC_000014.9:23525685:C:A p.(Gly1419Val) NC_000014.9:23525685:C:A p.(Gly1419Val) NC_000014.9:23525685:C:A Identity +NM_001164766.2:c.1903G>C NP_001158238.1:p.Val635Leu NC_000016.10:72798036:C:G p.(Val635Leu) NC_000016.10:72798036:C:G p.(Val635Leu) NC_000016.10:72798036:C:G Identity +NM_001282515.2:c.386C>T NP_001269444.1:p.Thr129Ile NC_000009.12:113049369:G:A p.(Thr129Ile) NC_000009.12:113049369:G:A p.(Thr129Ile) NC_000009.12:113049369:G:A Identity +NM_001172638.2:c.1645A>G NP_001166109.1:p.Lys549Glu NC_000005.10:180849849:T:C p.(Lys549Glu) NC_000005.10:180849849:T:C p.(Lys549Glu) NC_000005.10:180849849:T:C Identity +NM_001386735.1:c.371G>A NP_001373664.1:p.Ser124Asn NC_000016.10:72959774:C:T p.(Ser124Asn) NC_000016.10:72959774:C:T p.(Ser124Asn) NC_000016.10:72959774:C:T Identity +NM_001288713.1:c.1078C>G NP_001275642.1:p.Arg360Gly NC_000011.10:20928475:C:G p.(Arg360Gly) NC_000011.10:20928475:C:G p.(Arg360Gly) NC_000011.10:20928475:C:G Identity +NM_001320666.3:c.1405A>G NP_001307595.1:p.Lys469Glu NC_000019.10:37635135:T:C p.(Lys469Glu) NC_000019.10:37635135:T:C p.(Lys469Glu) NC_000019.10:37635135:T:C Identity +NM_001320666.3:c.407T>C NP_001307595.1:p.Met136Thr NC_000019.10:37636133:A:G p.(Met136Thr) NC_000019.10:37636133:A:G p.(Met136Thr) NC_000019.10:37636133:A:G Identity +NM_153813.3:c.136C>A NP_722520.2:p.Pro46Thr NC_000016.10:88486033:C:A p.(Pro46Thr) NC_000016.10:88486033:C:A p.(Pro46Thr) NC_000016.10:88486033:C:A Identity +NM_015174.2:c.245C>T NP_055989.1:p.Thr82Ile NC_000019.10:3834791:G:A p.(Thr82Ile) NC_000019.10:3834791:G:A p.(Thr82Ile) NC_000019.10:3834791:G:A Identity +NM_001145107.2:c.2446C>T NP_001138579.1:p.Arg816Cys NC_000012.12:44520108:G:A p.(Arg816Cys) NC_000012.12:44520108:G:A p.(Arg816Cys) NC_000012.12:44520108:G:A Identity +NM_015174.2:c.2269G>A NP_055989.1:p.Gly757Ser NC_000019.10:3811339:C:T p.(Gly757Ser) NC_000019.10:3811339:C:T p.(Gly757Ser) NC_000019.10:3811339:C:T Identity +NM_001144936.2:c.761G>A NP_001138408.1:p.Arg254Gln NC_000011.10:63765130:C:T p.(Arg254Gln) NC_000011.10:63765130:C:T p.(Arg254Gln) NC_000011.10:63765130:C:T Identity +NM_001410934.1:c.241C>A NP_001397863.1:p.Pro81Thr NC_000008.11:76704328:C:A p.(Pro81Thr) NC_000008.11:76704328:C:A p.(Pro81Thr) NC_000008.11:76704328:C:A Identity +NM_001305203.2:c.772G>A NP_001292132.1:p.Asp258Asn NC_000016.10:68563558:G:A p.(Asp258Asn) NC_000016.10:68563558:G:A p.(Asp258Asn) NC_000016.10:68563558:G:A Identity +NM_153813.3:c.2401C>G NP_722520.2:p.Pro801Ala NC_000016.10:88534358:C:G p.(Pro801Ala) NC_000016.10:88534358:C:G p.(Pro801Ala) NC_000016.10:88534358:C:G Identity +NM_004799.4:c.4037C>A NP_004790.2:p.Ala1346Asp NC_000001.11:52344864:C:A p.(Ala1346Asp) NC_000001.11:52344864:C:A p.(Ala1346Asp) NC_000001.11:52344864:C:A Identity +NM_001142645.2:c.233G>C NP_001136117.1:p.Gly78Ala NC_000002.12:190519163:C:G p.(Gly78Ala) NC_000002.12:190519163:C:G p.(Gly78Ala) NC_000002.12:190519163:C:G Identity +NM_153813.3:c.1651C>T NP_722520.2:p.His551Tyr NC_000016.10:88533608:C:T p.(His551Tyr) NC_000016.10:88533608:C:T p.(His551Tyr) NC_000016.10:88533608:C:T Identity +NM_001362836.2:c.3070T>G NP_001349765.1:p.Ser1024Ala NC_000008.11:105803310:T:G p.(Ser1024Ala) NC_000008.11:105803310:T:G p.(Ser1024Ala) NC_000008.11:105803310:T:G Identity +NM_001385877.1:c.97C>T NP_001372806.1:p.Pro33Ser NC_000010.11:97738573:C:T p.(Pro33Ser) NC_000010.11:97738573:C:T p.(Pro33Ser) NC_000010.11:97738573:C:T Identity +NM_001172656.2:c.2465C>T NP_001166127.1:p.Ser822Leu NC_000004.12:2270833:G:A p.(Ser822Leu) NC_000004.12:2270833:G:A p.(Ser822Leu) NC_000004.12:2270833:G:A Identity +NM_004799.4:c.701C>T NP_004790.2:p.Ser234Phe NC_000001.11:52238117:C:T p.(Ser234Phe) NC_000001.11:52238117:C:T p.(Ser234Phe) NC_000001.11:52238117:C:T Identity +NM_001012981.5:c.1937A>T NP_001012999.3:p.Glu646Val NC_000016.10:25243828:T:A p.(Glu646Val) NC_000016.10:25243828:T:A p.(Glu646Val) NC_000016.10:25243828:T:A Identity +NM_001318082.2:c.533C>T NP_001305011.1:p.Pro178Leu NC_000007.14:99512570:C:T p.(Pro178Leu) NC_000007.14:99512570:C:T p.(Pro178Leu) NC_000007.14:99512570:C:T Identity +NM_007167.4:c.557C>T NP_009098.3:p.Thr186Ile NC_000001.11:35015033:G:A p.(Thr186Ile) NC_000001.11:35015033:G:A p.(Thr186Ile) NC_000001.11:35015033:G:A Identity +NM_001350397.2:c.2969G>A NP_001337326.1:p.Arg990His NC_000004.12:112587913:C:T p.(Arg990His) NC_000004.12:112587913:C:T p.(Arg990His) NC_000004.12:112587913:C:T Identity +NM_001146326.2:c.1256A>G NP_001139798.1:p.Lys419Arg NC_000019.10:56775015:T:C p.(Lys419Arg) NC_000019.10:56775015:T:C p.(Lys419Arg) NC_000019.10:56775015:T:C Identity +NM_001287054.3:c.1186C>A NP_001273983.1:p.Pro396Thr NC_000007.14:100033798:C:A p.(Pro396Thr) NC_000007.14:100033798:C:A p.(Pro396Thr) NC_000007.14:100033798:C:A Identity +NM_001012981.5:c.1583G>T NP_001012999.3:p.Ser528Ile NC_000016.10:25244182:C:A p.(Ser528Ile) NC_000016.10:25244182:C:A p.(Ser528Ile) NC_000016.10:25244182:C:A Identity +NM_001289089.2:c.1879A>G NP_001276018.1:p.Ile627Val NC_000001.11:35113765:A:G p.(Ile627Val) NC_000001.11:35113765:A:G p.(Ile627Val) NC_000001.11:35113765:A:G Identity +NM_007167.4:c.2176G>A NP_009098.3:p.Ala726Thr NC_000001.11:34988905:C:T p.(Ala726Thr) NC_000001.11:34988905:C:T p.(Ala726Thr) NC_000001.11:34988905:C:T Identity +NM_006617.2:c.368G>A NP_006608.1:p.Arg123Gln NC_000001.11:156676896:C:T p.(Arg123Gln) NC_000001.11:156676896:C:T p.(Arg123Gln) NC_000001.11:156676896:C:T Identity +NM_001348277.2:c.1022A>G NP_001335206.1:p.His341Arg NC_000004.12:373686:A:G p.(His341Arg) NC_000004.12:373686:A:G p.(His341Arg) NC_000004.12:373686:A:G Identity +NM_001366845.3:c.2404C>T NP_001353774.1:p.Arg802Trp NC_000015.10:42449867:G:A p.(Arg802Trp) NC_000015.10:42449867:G:A p.(Arg802Trp) NC_000015.10:42449867:G:A Identity +NM_001331097.1:c.812C>T NP_001318026.1:p.Thr271Ile NC_000019.10:48286435:C:T p.(Thr271Ile) NC_000019.10:48286435:C:T p.(Thr271Ile) NC_000019.10:48286435:C:T Identity +NM_003433.4:c.758A>G NP_003424.3:p.Asn253Ser NC_000019.10:58434685:T:C p.(Asn253Ser) NC_000019.10:58434685:T:C p.(Asn253Ser) NC_000019.10:58434685:T:C Identity +NM_001105537.4:c.1631A>G NP_001099007.1:p.Tyr544Cys NC_000002.12:218644884:T:C p.(Tyr544Cys) NC_000002.12:218644884:T:C p.(Tyr544Cys) NC_000002.12:218644884:T:C Identity +NM_001260486.2:c.598G>A NP_001247415.2:p.Gly200Arg NC_000019.10:43996454:G:A p.(Gly200Arg) NC_000019.10:43996454:G:A p.(Gly200Arg) NC_000019.10:43996454:G:A Identity +NM_001278119.2:c.695A>C NP_001265048.1:p.Glu232Ala NC_000006.12:28152303:A:C p.(Glu232Ala) NC_000006.12:28152303:A:C p.(Glu232Ala) NC_000006.12:28152303:A:C Identity +NM_001190964.4:c.2186A>G NP_001177893.1:p.Tyr729Cys NC_000013.11:20036802:A:G p.(Tyr729Cys) NC_000013.11:20036802:A:G p.(Tyr729Cys) NC_000013.11:20036802:A:G Identity +NM_001190964.4:c.2321A>G NP_001177893.1:p.Gln774Arg NC_000013.11:20051460:A:G p.(Gln774Arg) NC_000013.11:20051460:A:G p.(Gln774Arg) NC_000013.11:20051460:A:G Identity +NM_001039649.3:c.70A>G NP_001034738.1:p.Met24Val NC_000013.11:19852110:T:C p.(Met24Val) NC_000013.11:19852110:T:C p.(Met24Val) NC_000013.11:19852110:T:C Identity +NM_001136046.3:c.943G>T NP_001129518.1:p.Val315Leu NC_000017.11:4742029:G:T p.(Val315Leu) NC_000017.11:4742029:G:T p.(Val315Leu) NC_000017.11:4742029:G:T Identity +NM_015394.5:c.1676A>G NP_056209.2:p.Asn559Ser NC_000012.12:133156921:A:G p.(Asn559Ser) NC_000012.12:133156921:A:G p.(Asn559Ser) NC_000012.12:133156921:A:G Identity +NM_015394.5:c.279C>G NP_056209.2:p.Ile93Met NC_000012.12:133155524:C:G p.(Ile93Met) NC_000012.12:133155524:C:G p.(Ile93Met) NC_000012.12:133155524:C:G Identity +NM_001366845.3:c.1288A>C NP_001353774.1:p.Lys430Gln NC_000015.10:42450983:T:G p.(Lys430Gln) NC_000015.10:42450983:T:G p.(Lys430Gln) NC_000015.10:42450983:T:G Identity +NM_001178106.1:c.112G>A NP_001171577.1:p.Asp38Asn NC_000023.11:152914786:G:A p.(Asp38Asn) NC_000023.11:152914786:G:A p.(Asp38Asn) NC_000023.11:152914786:G:A Identity +NM_001203250.2:c.142A>C NP_001190179.1:p.Lys48Gln NC_000019.10:12135548:T:G p.(Lys48Gln) NC_000019.10:12135548:T:G p.(Lys48Gln) NC_000019.10:12135548:T:G Identity +NM_001083335.2:c.2348C>G NP_001076804.1:p.Thr783Arg NC_000019.10:44327826:G:C p.(Thr783Arg) NC_000019.10:44327826:G:C p.(Thr783Arg) NC_000019.10:44327826:G:C Identity +NM_001008727.5:c.635G>A NP_001008727.1:p.Arg212His NC_000019.10:9566477:C:T p.(Arg212His) NC_000019.10:9566477:C:T p.(Arg212His) NC_000019.10:9566477:C:T Identity +NM_001029976.3:c.1879C>T NP_001025147.2:p.Arg627Cys NC_000008.11:144930907:G:A p.(Arg627Cys) NC_000008.11:144930907:G:A p.(Arg627Cys) NC_000008.11:144930907:G:A Identity +NM_001303281.2:c.715C>A NP_001290210.1:p.Leu239Ile NC_000017.11:11984148:G:T p.(Leu239Ile) NC_000017.11:11984148:G:T p.(Leu239Ile) NC_000017.11:11984148:G:T Identity +NM_001024855.3:c.22C>T NP_001020026.1:p.His8Tyr NC_000003.12:44629175:C:T p.(His8Tyr) NC_000003.12:44629175:C:T p.(His8Tyr) NC_000003.12:44629175:C:T Identity +NM_001284306.2:c.911C>G NP_001271235.1:p.Thr304Arg NC_000015.10:42442410:G:C p.(Thr304Arg) NC_000015.10:42442410:G:C p.(Thr304Arg) NC_000015.10:42442410:G:C Identity +NM_001348050.2:c.1310G>T NP_001334979.1:p.Arg437Ile NC_000007.14:64978260:C:A p.(Arg437Ile) NC_000007.14:64978260:C:A p.(Arg437Ile) NC_000007.14:64978260:C:A Identity +NM_001083330.4:c.1879A>C NP_001076799.2:p.Thr627Pro NC_000020.11:18316732:A:C p.(Thr627Pro) NC_000020.11:18316732:A:C p.(Thr627Pro) NC_000020.11:18316732:A:C Identity +NM_001130519.3:c.220C>A NP_001123991.1:p.His74Asn NC_000011.10:3370980:G:T p.(His74Asn) NC_000011.10:3370980:G:T p.(His74Asn) NC_000011.10:3370980:G:T Identity +NM_007153.3:c.2144A>G NP_009084.2:p.His715Arg NC_000019.10:21972889:T:C p.(His715Arg) NC_000019.10:21972889:T:C p.(His715Arg) NC_000019.10:21972889:T:C Identity +NM_001354853.2:c.770C>A NP_001341782.1:p.Thr257Asn NC_000011.10:6955746:C:A p.(Thr257Asn) NC_000011.10:6955746:C:A p.(Thr257Asn) NC_000011.10:6955746:C:A Identity +NM_001321685.2:c.1967A>G NP_001308614.1:p.Asp656Gly NC_000019.10:44132580:A:G p.(Asp656Gly) NC_000019.10:44132580:A:G p.(Asp656Gly) NC_000019.10:44132580:A:G Identity +NM_001289166.2:c.1785A>T NP_001276095.1:p.Gln595His NC_000019.10:44236214:A:T p.(Gln595His) NC_000019.10:44236214:A:T p.(Gln595His) NC_000019.10:44236214:A:T Identity +NM_001278510.3:c.2072C>G NP_001265439.2:p.Ser691Cys NC_000019.10:44428690:G:C p.(Ser691Cys) NC_000019.10:44428690:G:C p.(Ser691Cys) NC_000019.10:44428690:G:C Identity +NM_001297588.2:c.1625G>T NP_001284517.1:p.Gly542Val NC_000019.10:43967126:G:T p.(Gly542Val) NC_000019.10:43967126:G:T p.(Gly542Val) NC_000019.10:43967126:G:T Identity +NM_007147.4:c.781T>C NP_009078.1:p.Cys261Arg NC_000019.10:51587111:T:C p.(Cys261Arg) NC_000019.10:51587111:T:C p.(Cys261Arg) NC_000019.10:51587111:T:C Identity +NM_001278231.2:c.339G>C NP_001265160.1:p.Gln113His NC_000009.12:101408148:G:C p.(Gln113His) NC_000009.12:101408148:G:C p.(Gln113His) NC_000009.12:101408148:G:C Identity +NM_001145446.2:c.273G>C NP_001138918.1:p.Lys91Asn NC_000016.10:3232898:C:G p.(Lys91Asn) NC_000016.10:3232898:C:G p.(Lys91Asn) NC_000016.10:3232898:C:G Identity +NM_007153.3:c.2936G>A NP_009084.2:p.Gly979Asp NC_000019.10:21972097:C:T p.(Gly979Asp) NC_000019.10:21972097:C:T p.(Gly979Asp) NC_000019.10:21972097:C:T Identity +NM_001101672.2:c.302G>A NP_001095142.1:p.Arg101His NC_000014.9:21092994:C:T p.(Arg101His) NC_000014.9:21092994:C:T p.(Arg101His) NC_000014.9:21092994:C:T Identity +NM_001278510.3:c.1043G>A NP_001265439.2:p.Cys348Tyr NC_000019.10:44429719:C:T p.(Cys348Tyr) NC_000019.10:44429719:C:T p.(Cys348Tyr) NC_000019.10:44429719:C:T Identity +NM_001278510.3:c.802T>C NP_001265439.2:p.Phe268Leu NC_000019.10:44429960:A:G p.(Phe268Leu) NC_000019.10:44429960:A:G p.(Phe268Leu) NC_000019.10:44429960:A:G Identity +NM_006300.4:c.761G>C NP_006291.2:p.Cys254Ser NC_000019.10:44010799:G:C p.(Cys254Ser) NC_000019.10:44010799:G:C p.(Cys254Ser) NC_000019.10:44010799:G:C Identity +NM_001144824.2:c.53C>T NP_001138296.1:p.Thr18Ile NC_000019.10:44148807:C:T p.(Thr18Ile) NC_000019.10:44148807:C:T p.(Thr18Ile) NC_000019.10:44148807:C:T Identity +NM_001012756.3:c.115A>G NP_001012774.1:p.Lys39Glu NC_000019.10:36515123:T:C p.(Lys39Glu) NC_000019.10:36515123:T:C p.(Lys39Glu) NC_000019.10:36515123:T:C Identity +NM_001144824.2:c.1464G>T NP_001138296.1:p.Glu488Asp NC_000019.10:44157479:G:T p.(Glu488Asp) NC_000019.10:44157479:G:T p.(Glu488Asp) NC_000019.10:44157479:G:T Identity +NM_138367.2:c.415C>T NP_612376.1:p.Arg139Cys NC_000008.11:144723244:G:A p.(Arg139Cys) NC_000008.11:144723244:G:A p.(Arg139Cys) NC_000008.11:144723244:G:A Identity +NM_001265588.2:c.1280C>T NP_001252517.2:p.Thr427Ile NC_000016.10:31915624:C:T p.(Thr427Ile) NC_000016.10:31915624:C:T p.(Thr427Ile) NC_000016.10:31915624:C:T Identity +NM_001265588.2:c.306T>A NP_001252517.2:p.Phe102Leu NC_000016.10:31914650:T:A p.(Phe102Leu) NC_000016.10:31914650:T:A p.(Phe102Leu) NC_000016.10:31914650:T:A Identity +NM_001207005.2:c.26C>T NP_001193934.1:p.Thr9Ile NC_000019.10:44266207:C:T p.(Thr9Ile) NC_000019.10:44266207:C:T p.(Thr9Ile) NC_000019.10:44266207:C:T Identity +NM_001297752.2:c.1163G>T NP_001284681.1:p.Gly388Val NC_000019.10:43848180:G:T p.(Gly388Val) NC_000019.10:43848180:G:T p.(Gly388Val) NC_000019.10:43848180:G:T Identity +NM_001297752.2:c.1395T>G NP_001284681.1:p.Cys465Trp NC_000019.10:43848412:T:G p.(Cys465Trp) NC_000019.10:43848412:T:G p.(Cys465Trp) NC_000019.10:43848412:T:G Identity +NM_001346167.2:c.73G>A NP_001333096.1:p.Ala25Thr NC_000017.11:16567658:C:T p.(Ala25Thr) NC_000017.11:16567658:C:T p.(Ala25Thr) NC_000017.11:16567658:C:T Identity +NM_001099437.2:c.1426C>T NP_001092907.1:p.Arg476Trp NC_000019.10:34944388:C:T p.(Arg476Trp) NC_000019.10:34944388:C:T p.(Arg476Trp) NC_000019.10:34944388:C:T Identity +NM_001165881.3:c.2483G>A NP_001159353.1:p.Arg828Gln NC_000012.12:133204168:G:A p.(Arg828Gln) NC_000012.12:133204168:G:A p.(Arg828Gln) NC_000012.12:133204168:G:A Identity +NM_080764.4:c.110A>G NP_542942.2:p.His37Arg NC_000022.11:22489288:T:C p.(His37Arg) NC_000022.11:22489288:T:C p.(His37Arg) NC_000022.11:22489288:T:C Identity +NM_001037813.4:c.1244A>G NP_001032902.1:p.His415Arg NC_000019.10:44086721:A:G p.(His415Arg) NC_000019.10:44086721:A:G p.(His415Arg) NC_000019.10:44086721:A:G Identity +NM_001306089.2:c.2618C>T NP_001293018.1:p.Ala873Val NC_000018.10:76910133:C:T p.(Ala873Val) NC_000018.10:76910133:C:T p.(Ala873Val) NC_000018.10:76910133:C:T Identity +NM_001303481.3:c.715G>A NP_001290410.1:p.Ala239Thr NC_000007.14:149207352:G:A p.(Ala239Thr) NC_000007.14:149207352:G:A p.(Ala239Thr) NC_000007.14:149207352:G:A Identity +NM_001272011.2:c.983T>G NP_001258940.1:p.Val328Gly NC_000014.9:102229565:A:C p.(Val328Gly) NC_000014.9:102229565:A:C p.(Val328Gly) NC_000014.9:102229565:A:C Identity +NM_001099437.2:c.281C>A NP_001092907.1:p.Thr94Lys NC_000019.10:34943243:C:A p.(Thr94Lys) NC_000019.10:34943243:C:A p.(Thr94Lys) NC_000019.10:34943243:C:A Identity +NM_014345.3:c.3947A>C NP_055160.2:p.Lys1316Thr NC_000006.12:43340050:T:G p.(Lys1316Thr) NC_000006.12:43340050:T:G p.(Lys1316Thr) NC_000006.12:43340050:T:G Identity +NM_024620.4:c.703G>A NP_078896.3:p.Glu235Lys NC_000019.10:58128800:C:T p.(Glu235Lys) NC_000019.10:58128800:C:T p.(Glu235Lys) NC_000019.10:58128800:C:T Identity +NM_001113525.2:c.1103A>G NP_001106997.1:p.Asp368Gly NC_000016.10:89729251:A:G p.(Asp368Gly) NC_000016.10:89729251:A:G p.(Asp368Gly) NC_000016.10:89729251:A:G Identity +NM_021994.3:c.305A>T NP_068834.2:p.Tyr102Phe NC_000007.14:112295879:A:T p.(Tyr102Phe) NC_000007.14:112295879:A:T p.(Tyr102Phe) NC_000007.14:112295879:A:T Identity +NM_001303481.3:c.1253A>C NP_001290410.1:p.Gln418Pro NC_000007.14:149223883:A:C p.(Gln418Pro) NC_000007.14:149223883:A:C p.(Gln418Pro) NC_000007.14:149223883:A:C Identity +NM_001297752.2:c.1450G>C NP_001284681.1:p.Gly484Arg NC_000019.10:43848467:G:C p.(Gly484Arg) NC_000019.10:43848467:G:C p.(Gly484Arg) NC_000019.10:43848467:G:C Identity +NM_002500.5:c.578G>A NP_002491.3:p.Arg193Gln NC_000002.12:181678282:C:T p.(Arg193Gln) NC_000002.12:181678282:C:T p.(Arg193Gln) NC_000002.12:181678282:C:T Identity +NM_001308213.2:c.556A>G NP_001295142.1:p.Asn186Asp NC_000005.10:177044496:A:G p.(Asn186Asp) NC_000005.10:177044496:A:G p.(Asn186Asp) NC_000005.10:177044496:A:G Identity +NM_018083.5:c.1378C>T NP_060553.4:p.Arg460Cys NC_000019.10:7520619:C:T p.(Arg460Cys) NC_000019.10:7520619:C:T p.(Arg460Cys) NC_000019.10:7520619:C:T Identity +NM_001007094.4:c.281A>G NP_001007095.1:p.Asn94Ser NC_000010.11:38117431:A:G p.(Asn94Ser) NC_000010.11:38117431:A:G p.(Asn94Ser) NC_000010.11:38117431:A:G Identity +NM_022728.4:c.931G>A NP_073565.2:p.Asp311Asn NC_000007.14:31338337:C:T p.(Asp311Asn) NC_000007.14:31338337:C:T p.(Asp311Asn) NC_000007.14:31338337:C:T Identity +NM_001305033.2:c.1658C>T NP_001291962.1:p.Thr553Met NC_000010.11:42593312:G:A p.(Thr553Met) NC_000010.11:42593312:G:A p.(Thr553Met) NC_000010.11:42593312:G:A Identity +NM_001172674.2:c.2467G>A NP_001166145.1:p.Val823Met NC_000019.10:53140363:C:T p.(Val823Met) NC_000019.10:53140363:C:T p.(Val823Met) NC_000019.10:53140363:C:T Identity +NM_003420.4:c.1292C>G NP_003411.3:p.Ser431Cys NC_000003.12:44659654:C:G p.(Ser431Cys) NC_000003.12:44659654:C:G p.(Ser431Cys) NC_000003.12:44659654:C:G Identity +NM_152625.3:c.2098C>G NP_689838.1:p.Leu700Val NC_000005.10:72443892:G:C p.(Leu700Val) NC_000005.10:72443892:G:C p.(Leu700Val) NC_000005.10:72443892:G:C Identity +NM_001039920.3:c.1010G>A NP_001035009.1:p.Arg337His NC_000012.12:6668089:C:T p.(Arg337His) NC_000012.12:6668089:C:T p.(Arg337His) NC_000012.12:6668089:C:T Identity +NM_006161.3:c.44C>T NP_006152.2:p.Ala15Val NC_000005.10:135535646:G:A p.(Ala15Val) NC_000005.10:135535646:G:A p.(Ala15Val) NC_000005.10:135535646:G:A Identity +NM_001005408.2:c.1475G>A NP_001005408.1:p.Arg492His NC_000017.11:7325364:C:T p.(Arg492His) NC_000017.11:7325364:C:T p.(Arg492His) NC_000017.11:7325364:C:T Identity +NM_001324140.2:c.16G>T NP_001311069.1:p.Asp6Tyr NC_000023.11:47467465:C:A p.(Asp6Tyr) NC_000023.11:47467465:C:A p.(Asp6Tyr) NC_000023.11:47467465:C:A Identity +NM_001076781.3:c.578A>G NP_001070249.1:p.Tyr193Cys NC_000006.12:27400947:A:G p.(Tyr193Cys) NC_000006.12:27400947:A:G p.(Tyr193Cys) NC_000006.12:27400947:A:G Identity +NM_001080411.3:c.1730T>C NP_001073880.1:p.Leu577Pro NC_000019.10:12015136:A:G p.(Leu577Pro) NC_000019.10:12015136:A:G p.(Leu577Pro) NC_000019.10:12015136:A:G Identity +NM_001305033.2:c.56T>A NP_001291962.1:p.Val19Glu NC_000010.11:42632413:A:T p.(Val19Glu) NC_000010.11:42632413:A:T p.(Val19Glu) NC_000010.11:42632413:A:T Identity +NM_001242472.2:c.140C>G NP_001229401.1:p.Thr47Ser NC_000019.10:36876969:C:G p.(Thr47Ser) NC_000019.10:36876969:C:G p.(Thr47Ser) NC_000019.10:36876969:C:G Identity +NM_001370212.1:c.1223C>T NP_001357141.1:p.Thr408Met NC_000001.11:33299005:C:T p.(Thr408Met) NC_000001.11:33299005:C:T p.(Thr408Met) NC_000001.11:33299005:C:T Identity +NM_006161.3:c.484G>A NP_006152.2:p.Glu162Lys NC_000005.10:135535206:C:T p.(Glu162Lys) NC_000005.10:135535206:C:T p.(Glu162Lys) NC_000005.10:135535206:C:T Identity +NM_001172671.2:c.1559C>G NP_001166142.1:p.Ala520Gly NC_000019.10:21057869:C:G p.(Ala520Gly) NC_000019.10:21057869:C:G p.(Ala520Gly) NC_000019.10:21057869:C:G Identity +NM_001164276.2:c.782G>A NP_001157748.1:p.Arg261His NC_000019.10:12273616:C:T p.(Arg261His) NC_000019.10:12273616:C:T p.(Arg261His) NC_000019.10:12273616:C:T Identity +NM_001367624.2:c.2779C>G NP_001354553.1:p.Arg927Gly NC_000016.10:88430248:C:G p.(Arg927Gly) NC_000016.10:88430248:C:G p.(Arg927Gly) NC_000016.10:88430248:C:G Identity +NM_207336.3:c.467C>G NP_997219.1:p.Pro156Arg NC_000007.14:149766034:G:C p.(Pro156Arg) NC_000007.14:149766034:G:C p.(Pro156Arg) NC_000007.14:149766034:G:C Identity +NM_001214906.1:c.1568C>G NP_001201835.1:p.Pro523Arg NC_000016.10:30398817:C:G p.(Pro523Arg) NC_000016.10:30398817:C:G p.(Pro523Arg) NC_000016.10:30398817:C:G Identity +NM_001346932.2:c.500C>T NP_001333861.1:p.Thr167Ile NC_000010.11:47368329:G:A p.(Thr167Ile) NC_000010.11:47368329:G:A p.(Thr167Ile) NC_000010.11:47368329:G:A Identity +NM_020781.4:c.1181G>A NP_065832.1:p.Arg394Gln NC_000007.14:149179565:G:A p.(Arg394Gln) NC_000007.14:149179565:G:A p.(Arg394Gln) NC_000007.14:149179565:G:A Identity +NM_001242924.2:c.678T>C NP_001229853.1:p.Ser226= NC_000014.9:73904005:T:C p.(Ser226=) NC_000014.9:73904005:T:C p.(Ser226=) NC_000014.9:73904005:T:C Identity +NM_001300883.3:c.958C>T NP_001287812.1:p.His320Tyr NC_000019.10:9528972:G:A p.(His320Tyr) NC_000019.10:9528972:G:A p.(His320Tyr) NC_000019.10:9528972:G:A Identity +NM_001319124.2:c.1699A>G NP_001306053.1:p.Thr567Ala NC_000019.10:21183998:A:G p.(Thr567Ala) NC_000019.10:21183998:A:G p.(Thr567Ala) NC_000019.10:21183998:A:G Identity +NM_001113178.3:c.4456C>G NP_001106649.1:p.Gln1486Glu NC_000016.10:69695179:C:G p.(Gln1486Glu) NC_000016.10:69695179:C:G p.(Gln1486Glu) NC_000016.10:69695179:C:G Identity +NM_032772.6:c.1174G>T NP_116161.2:p.Ala392Ser NC_000010.11:75399515:C:A p.(Ala392Ser) NC_000010.11:75399515:C:A p.(Ala392Ser) NC_000010.11:75399515:C:A Identity +NM_001318005.1:c.406G>A NP_001304934.1:p.Glu136Lys NC_000002.12:95152703:C:T p.(Glu136Lys) NC_000002.12:95152703:C:T p.(Glu136Lys) NC_000002.12:95152703:C:T Identity +NM_014643.4:c.2607C>A NP_055458.1:p.Ser869Arg NC_000018.10:76379506:G:T p.(Ser869Arg) NC_000018.10:76379506:G:T p.(Ser869Arg) NC_000018.10:76379506:G:T Identity +NM_001348718.2:c.1507T>C NP_001335647.1:p.Trp503Arg NC_000019.10:11868551:T:C p.(Trp503Arg) NC_000019.10:11868551:T:C p.(Trp503Arg) NC_000019.10:11868551:T:C Identity +NM_001318323.3:c.564G>A NP_001305252.1:p.Pro188= NC_000022.11:42387064:C:T p.(Pro188=) NC_000022.11:42387064:C:T p.(Pro188=) NC_000022.11:42387064:C:T Identity +NM_001297623.3:c.1094G>A NP_001284552.1:p.Arg365Gln NC_000019.10:36639181:C:T p.(Arg365Gln) NC_000019.10:36639181:C:T p.(Arg365Gln) NC_000019.10:36639181:C:T Identity +NM_001347997.2:c.2024C>T NP_001334926.1:p.Ala675Val NC_000009.12:106925935:C:T p.(Ala675Val) NC_000009.12:106925935:C:T p.(Ala675Val) NC_000009.12:106925935:C:T Identity +NM_001303450.2:c.1049A>G NP_001290379.1:p.Glu350Gly NC_000016.10:4752769:T:C p.(Glu350Gly) NC_000016.10:4752769:T:C p.(Glu350Gly) NC_000016.10:4752769:T:C Identity +NM_032772.6:c.1751C>T NP_116161.2:p.Pro584Leu NC_000010.11:75398938:G:A p.(Pro584Leu) NC_000010.11:75398938:G:A p.(Pro584Leu) NC_000010.11:75398938:G:A Identity +NM_001099269.3:c.59G>T NP_001092739.1:p.Cys20Phe NC_000019.10:19807012:C:A p.(Cys20Phe) NC_000019.10:19807012:C:A p.(Cys20Phe) NC_000019.10:19807012:C:A Identity +NM_020713.3:c.486C>A NP_065764.1:p.Asn162Lys NC_000020.11:63966688:G:T p.(Asn162Lys) NC_000020.11:63966688:G:T p.(Asn162Lys) NC_000020.11:63966688:G:T Identity +NM_001318005.1:c.389G>T NP_001304934.1:p.Gly130Val NC_000002.12:95152720:C:A p.(Gly130Val) NC_000002.12:95152720:C:A p.(Gly130Val) NC_000002.12:95152720:C:A Identity +NM_001320767.2:c.242G>A NP_001307696.1:p.Arg81Gln NC_000019.10:58246791:G:A p.(Arg81Gln) NC_000019.10:58246791:G:A p.(Arg81Gln) NC_000019.10:58246791:G:A Identity +NM_001297763.2:c.1700G>A NP_001284692.1:p.Arg567His NC_000019.10:40015047:G:A p.(Arg567His) NC_000019.10:40015047:G:A p.(Arg567His) NC_000019.10:40015047:G:A Identity +NM_001330736.2:c.1721A>G NP_001317665.1:p.Asp574Gly NC_000010.11:96158042:A:G p.(Asp574Gly) NC_000010.11:96158042:A:G p.(Asp574Gly) NC_000010.11:96158042:A:G Identity +NM_001278524.2:c.3666A>G NP_001265453.1:p.Ile1222Met NC_000010.11:96159987:A:G p.(Ile1222Met) NC_000010.11:96159987:A:G p.(Ile1222Met) NC_000010.11:96159987:A:G Identity +NM_032453.2:c.1082A>G NP_115829.1:p.Asn361Ser NC_000019.10:37389130:A:G p.(Asn361Ser) NC_000019.10:37389130:A:G p.(Asn361Ser) NC_000019.10:37389130:A:G Identity +NM_001367624.2:c.5405A>G NP_001354553.1:p.His1802Arg NC_000016.10:88432874:A:G p.(His1802Arg) NC_000016.10:88432874:A:G p.(His1802Arg) NC_000016.10:88432874:A:G Identity +NM_001321768.2:c.577T>G NP_001308697.1:p.Cys193Gly NC_000019.10:56524865:T:G p.(Cys193Gly) NC_000019.10:56524865:T:G p.(Cys193Gly) NC_000019.10:56524865:T:G Identity +NM_020855.3:c.1221A>C NP_065906.1:p.Gln407His NC_000019.10:22664889:A:C p.(Gln407His) NC_000019.10:22664889:A:C p.(Gln407His) NC_000019.10:22664889:A:C Identity +NM_173631.4:c.400T>C NP_775902.2:p.Ser134Pro NC_000019.10:57377375:T:C p.(Ser134Pro) NC_000019.10:57377375:T:C p.(Ser134Pro) NC_000019.10:57377375:T:C Identity +NM_001363608.1:c.20A>G NP_001350537.1:p.Glu7Gly NC_000019.10:12322694:T:C p.(Glu7Gly) NC_000019.10:12322694:T:C p.(Glu7Gly) NC_000019.10:12322694:T:C Identity +NM_001199295.2:c.1597G>C NP_001186224.2:p.Glu533Gln NC_000019.10:57538600:G:C p.(Glu533Gln) NC_000019.10:57538600:G:C p.(Glu533Gln) NC_000019.10:57538600:G:C Identity +NM_001270938.2:c.678C>A NP_001257867.1:p.Ser226Arg NC_000019.10:57687036:C:A p.(Ser226Arg) NC_000019.10:57687036:C:A p.(Ser226Arg) NC_000019.10:57687036:C:A Identity +NM_001172775.2:c.899G>A NP_001166246.1:p.Arg300Lys NC_000019.10:2852966:G:A p.(Arg300Lys) NC_000019.10:2852966:G:A p.(Arg300Lys) NC_000019.10:2852966:G:A Identity +NM_144976.4:c.25G>A NP_659413.1:p.Val9Met NC_000019.10:12528674:C:T p.(Val9Met) NC_000019.10:12528674:C:T p.(Val9Met) NC_000019.10:12528674:C:T Identity +NM_001300979.2:c.1310C>T NP_001287908.1:p.Ala437Val NC_000019.10:36720033:C:T p.(Ala437Val) NC_000019.10:36720033:C:T p.(Ala437Val) NC_000019.10:36720033:C:T Identity +NM_001319083.2:c.7G>A NP_001306012.1:p.Glu3Lys NC_000019.10:2915620:G:A p.(Glu3Lys) NC_000019.10:2915620:G:A p.(Glu3Lys) NC_000019.10:2915620:G:A Identity +NM_001319083.2:c.554C>T NP_001306012.1:p.Thr185Ile NC_000019.10:2917270:C:T p.(Thr185Ile) NC_000019.10:2917270:C:T p.(Thr185Ile) NC_000019.10:2917270:C:T Identity +NM_001300843.2:c.298A>G NP_001287772.1:p.Lys100Glu NC_000019.10:2876259:A:G p.(Lys100Glu) NC_000019.10:2876259:A:G p.(Lys100Glu) NC_000019.10:2876259:A:G Identity +NM_001172650.3:c.287T>C NP_001166121.1:p.Ile96Thr NC_000019.10:9380089:T:C p.(Ile96Thr) NC_000019.10:9380089:T:C p.(Ile96Thr) NC_000019.10:9380089:T:C Identity +NM_021646.4:c.1342C>T NP_067678.1:p.Arg448Trp NC_000016.10:4752476:G:A p.(Arg448Trp) NC_000016.10:4752476:G:A p.(Arg448Trp) NC_000016.10:4752476:G:A Identity +NM_001099694.2:c.1331G>A NP_001093164.1:p.Arg444His NC_000019.10:52511711:G:A p.(Arg444His) NC_000019.10:52511711:G:A p.(Arg444His) NC_000019.10:52511711:G:A Identity +NM_001363680.1:c.676G>A NP_001350609.1:p.Glu226Lys NC_000019.10:58417328:G:A p.(Glu226Lys) NC_000019.10:58417328:G:A p.(Glu226Lys) NC_000019.10:58417328:G:A Identity +NM_001330519.2:c.436G>A NP_001317448.1:p.Val146Met NC_000019.10:42078771:G:A p.(Val146Met) NC_000019.10:42078771:G:A p.(Val146Met) NC_000019.10:42078771:G:A Identity +NM_001320371.4:c.448C>T NP_001307300.2:p.Pro150Ser NC_000019.10:56384968:G:A p.(Pro150Ser) NC_000019.10:56384968:G:A p.(Pro150Ser) NC_000019.10:56384968:G:A Identity +NM_001204818.2:c.452G>A NP_001191747.1:p.Ser151Asn NC_000019.10:57841125:G:A p.(Ser151Asn) NC_000019.10:57841125:G:A p.(Ser151Asn) NC_000019.10:57841125:G:A Identity +NM_152412.3:c.1133A>G NP_689625.2:p.Gln378Arg NC_000008.11:124977400:A:G p.(Gln378Arg) NC_000008.11:124977400:A:G p.(Gln378Arg) NC_000008.11:124977400:A:G Identity +NM_001172689.2:c.1481A>G NP_001166160.1:p.Tyr494Cys NC_000019.10:37738744:T:C p.(Tyr494Cys) NC_000019.10:37738744:T:C p.(Tyr494Cys) NC_000019.10:37738744:T:C Identity +NM_032423.3:c.769T>C NP_115799.2:p.Ser257Pro NC_000019.10:52415620:T:C p.(Ser257Pro) NC_000019.10:52415620:T:C p.(Ser257Pro) NC_000019.10:52415620:T:C Identity +NM_001320767.2:c.1247C>T NP_001307696.1:p.Ser416Phe NC_000019.10:58261852:C:T p.(Ser416Phe) NC_000019.10:58261852:C:T p.(Ser416Phe) NC_000019.10:58261852:C:T Identity +NM_015042.2:c.1738T>A NP_055857.1:p.Ser580Thr NC_000015.10:64674591:T:A p.(Ser580Thr) NC_000015.10:64674591:T:A p.(Ser580Thr) NC_000015.10:64674591:T:A Identity +NM_001318040.2:c.1339G>A NP_001304969.1:p.Asp447Asn NC_000009.12:114048739:G:A p.(Asp447Asn) NC_000009.12:114048739:G:A p.(Asp447Asn) NC_000009.12:114048739:G:A Identity +NM_001256167.2:c.107A>G NP_001243096.1:p.His36Arg NC_000003.12:40516042:A:G p.(His36Arg) NC_000003.12:40516042:A:G p.(His36Arg) NC_000003.12:40516042:A:G Identity +NM_001007248.3:c.742C>A NP_001007249.1:p.Leu248Ile NC_000019.10:34760058:G:T p.(Leu248Ile) NC_000019.10:34760058:G:T p.(Leu248Ile) NC_000019.10:34760058:G:T Identity +NM_001385619.1:c.619G>A NP_001372548.1:p.Ala207Thr NC_000005.10:124744370:C:T p.(Ala207Thr) NC_000005.10:124744370:C:T p.(Ala207Thr) NC_000005.10:124744370:C:T Identity +NM_001318040.2:c.2459C>T NP_001304969.1:p.Pro820Leu NC_000009.12:114049859:C:T p.(Pro820Leu) NC_000009.12:114049859:C:T p.(Pro820Leu) NC_000009.12:114049859:C:T Identity +NM_001318040.2:c.545T>G NP_001304969.1:p.Val182Gly NC_000009.12:114008343:T:G p.(Val182Gly) NC_000009.12:114008343:T:G p.(Val182Gly) NC_000009.12:114008343:T:G Identity +NM_001145082.4:c.1436A>G NP_001138554.1:p.Gln479Arg NC_000003.12:40487825:A:G p.(Gln479Arg) NC_000003.12:40487825:A:G p.(Gln479Arg) NC_000003.12:40487825:A:G Identity +NM_025040.4:c.1702A>G NP_079316.2:p.Ile568Val NC_000019.10:52015895:T:C p.(Ile568Val) NC_000019.10:52015895:T:C p.(Ile568Val) NC_000019.10:52015895:T:C Identity +NM_001145082.4:c.785A>G NP_001138554.1:p.His262Arg NC_000003.12:40487174:A:G p.(His262Arg) NC_000003.12:40487174:A:G p.(His262Arg) NC_000003.12:40487174:A:G Identity +NM_001080417.3:c.94G>A NP_001073886.1:p.Glu32Lys NC_000016.10:30784233:C:T p.(Glu32Lys) NC_000016.10:30784233:C:T p.(Glu32Lys) NC_000016.10:30784233:C:T Identity +NM_001037735.4:c.1532G>A NP_001032824.2:p.Gly511Glu NC_000023.11:48058909:C:T p.(Gly511Glu) NC_000023.11:48058909:C:T p.(Gly511Glu) NC_000023.11:48058909:C:T Identity +NM_001142501.2:c.1151G>A NP_001135973.2:p.Arg384His NC_000003.12:49909044:C:T p.(Arg384His) NC_000003.12:49909044:C:T p.(Arg384His) NC_000003.12:49909044:C:T Identity +NM_001076675.3:c.993T>A NP_001070143.1:p.His331Gln NC_000019.10:20624883:A:T p.(His331Gln) NC_000019.10:20624883:A:T p.(His331Gln) NC_000019.10:20624883:A:T Identity +NM_001286639.2:c.1096A>C NP_001273568.1:p.Lys366Gln NC_000016.10:77195661:A:C p.(Lys366Gln) NC_000016.10:77195661:A:C p.(Lys366Gln) NC_000016.10:77195661:A:C Identity +NM_001007248.3:c.920G>A NP_001007249.1:p.Arg307Gln NC_000019.10:34759880:C:T p.(Arg307Gln) NC_000019.10:34759880:C:T p.(Arg307Gln) NC_000019.10:34759880:C:T Identity +NM_001142572.2:c.761A>T NP_001136044.1:p.Asp254Val NC_000001.11:247100749:T:A p.(Asp254Val) NC_000001.11:247100749:T:A p.(Asp254Val) NC_000001.11:247100749:T:A Identity +NM_001245002.2:c.1433C>T NP_001231931.1:p.Pro478Leu NC_000019.10:3456558:C:T p.(Pro478Leu) NC_000019.10:3456558:C:T p.(Pro478Leu) NC_000019.10:3456558:C:T Identity +NM_178558.5:c.1101A>T NP_848653.2:p.Arg367Ser NC_000007.14:64521652:T:A p.(Arg367Ser) NC_000007.14:64521652:T:A p.(Arg367Ser) NC_000007.14:64521652:T:A Identity +NM_138286.3:c.1763A>G NP_612143.2:p.Lys588Arg NC_000019.10:23743786:T:C p.(Lys588Arg) NC_000019.10:23743786:T:C p.(Lys588Arg) NC_000019.10:23743786:T:C Identity +NM_001009960.1:c.629A>T NP_001009960.1:p.Lys210Ile NC_000007.14:99572736:A:T p.(Lys210Ile) NC_000007.14:99572736:A:T p.(Lys210Ile) NC_000007.14:99572736:A:T Identity +NM_001353457.2:c.983G>A NP_001340386.1:p.Arg328His NC_000019.10:53165500:C:T p.(Arg328His) NC_000019.10:53165500:C:T p.(Arg328His) NC_000019.10:53165500:C:T Identity +NM_001321355.2:c.1339T>C NP_001308284.1:p.Cys447Arg NC_000019.10:56441484:A:G p.(Cys447Arg) NC_000019.10:56441484:A:G p.(Cys447Arg) NC_000019.10:56441484:A:G Identity +NM_024833.3:c.227A>T NP_079109.2:p.Asp76Val NC_000019.10:57723251:T:A p.(Asp76Val) NC_000019.10:57723251:T:A p.(Asp76Val) NC_000019.10:57723251:T:A Identity +NM_138286.3:c.451T>C NP_612143.2:p.Phe151Leu NC_000019.10:23745098:A:G p.(Phe151Leu) NC_000019.10:23745098:A:G p.(Phe151Leu) NC_000019.10:23745098:A:G Identity +NM_001304763.2:c.3635C>T NP_001291692.1:p.Pro1212Leu NC_000001.11:151291129:C:T p.(Pro1212Leu) NC_000001.11:151291129:C:T p.(Pro1212Leu) NC_000001.11:151291129:C:T Identity +NM_001136036.3:c.373T>C NP_001129508.1:p.Phe125Leu NC_000001.11:248857350:A:G p.(Phe125Leu) NC_000001.11:248857350:A:G p.(Phe125Leu) NC_000001.11:248857350:A:G Identity +NM_001172655.1:c.1318G>A NP_001166126.1:p.Val440Ile NC_000019.10:52583178:G:A p.(Val440Ile) NC_000019.10:52583178:G:A p.(Val440Ile) NC_000019.10:52583178:G:A Identity +NM_001164457.3:c.232C>A NP_001157929.1:p.Pro78Thr NC_000008.11:7360239:G:T p.(Pro78Thr) NC_000008.11:7360239:G:T p.(Pro78Thr) NC_000008.11:7360239:G:T Identity +NM_198526.4:c.575C>T NP_940928.2:p.Pro192Leu NC_000015.10:90067711:C:T p.(Pro192Leu) NC_000015.10:90067711:C:T p.(Pro192Leu) NC_000015.10:90067711:C:T Identity +NM_133474.4:c.1556A>G NP_597731.2:p.His519Arg NC_000004.12:442910:T:C p.(His519Arg) NC_000004.12:442910:T:C p.(His519Arg) NC_000004.12:442910:T:C Identity +NM_001199324.2:c.1120C>T NP_001186253.1:p.His374Tyr NC_000019.10:51993988:G:A p.(His374Tyr) NC_000019.10:51993988:G:A p.(His374Tyr) NC_000019.10:51993988:G:A Identity +NM_145233.4:c.145G>A NP_660276.2:p.Asp49Asn NC_000019.10:12147440:C:T p.(Asp49Asn) NC_000019.10:12147440:C:T p.(Asp49Asn) NC_000019.10:12147440:C:T Identity +NM_020394.5:c.1201A>T NP_065127.5:p.Ile401Phe NC_000001.11:246987313:T:A p.(Ile401Phe) NC_000001.11:246987313:T:A p.(Ile401Phe) NC_000001.11:246987313:T:A Identity +NM_001282795.2:c.226G>A NP_001269724.1:p.Val76Ile NC_000008.11:144837452:G:A p.(Val76Ile) NC_000008.11:144837452:G:A p.(Val76Ile) NC_000008.11:144837452:G:A Identity +NM_020394.5:c.869A>G NP_065127.5:p.His290Arg NC_000001.11:246987645:T:C p.(His290Arg) NC_000001.11:246987645:T:C p.(His290Arg) NC_000001.11:246987645:T:C Identity +NM_001282795.2:c.74C>T NP_001269724.1:p.Ser25Phe NC_000008.11:144829514:C:T p.(Ser25Phe) NC_000008.11:144829514:C:T p.(Ser25Phe) NC_000008.11:144829514:C:T Identity +NM_001172655.1:c.429T>G NP_001166126.1:p.His143Gln NC_000019.10:52582289:T:G p.(His143Gln) NC_000019.10:52582289:T:G p.(His143Gln) NC_000019.10:52582289:T:G Identity +NM_001297560.2:c.3G>A NP_001284489.1:p.Met1Ile NC_000019.10:21309276:C:T p.(Met1Ile) NC_000019.10:21309276:C:T p.Met1? NC_000019.10:21309276:C:T Identity +NM_001297560.2:c.55A>G NP_001284489.1:p.Lys19Glu NC_000019.10:21294718:T:C p.(Lys19Glu) NC_000019.10:21294718:T:C p.(Lys19Glu) NC_000019.10:21294718:T:C Identity +NM_133474.4:c.343G>C NP_597731.2:p.Gly115Arg NC_000004.12:444123:C:G p.(Gly115Arg) NC_000004.12:444123:C:G p.(Gly115Arg) NC_000004.12:444123:C:G Identity +NM_001242680.2:c.1138G>C NP_001229609.1:p.Glu380Gln NC_000019.10:22314554:G:C p.(Glu380Gln) NC_000019.10:22314554:G:C p.(Glu380Gln) NC_000019.10:22314554:G:C Identity +NM_001170905.3:c.977C>T NP_001164376.1:p.Ser326Leu NC_000007.14:64348839:C:T p.(Ser326Leu) NC_000007.14:64348839:C:T p.(Ser326Leu) NC_000007.14:64348839:C:T Identity +NM_001172681.2:c.560A>G NP_001166152.1:p.Glu187Gly NC_000012.12:48343687:T:C p.(Glu187Gly) NC_000012.12:48343687:T:C p.(Glu187Gly) NC_000012.12:48343687:T:C Identity +NM_014699.4:c.3776G>A NP_055514.3:p.Arg1259His NC_000016.10:31080099:G:A p.(Arg1259His) NC_000016.10:31080099:G:A p.(Arg1259His) NC_000016.10:31080099:G:A Identity +NM_001317916.2:c.2178T>A NP_001304845.1:p.Asn726Lys NC_000009.12:66919743:T:A p.(Asn726Lys) NC_000009.12:66919743:T:A p.(Asn726Lys) NC_000009.12:66919743:T:A Identity +NM_001172679.2:c.1022C>T NP_001166150.1:p.Pro341Leu NC_000016.10:30555395:G:A p.(Pro341Leu) NC_000016.10:30555395:G:A p.(Pro341Leu) NC_000016.10:30555395:G:A Identity +NM_024671.4:c.580C>G NP_078947.3:p.Pro194Ala NC_000016.10:30525559:G:C p.(Pro194Ala) NC_000016.10:30525559:G:C p.(Pro194Ala) NC_000016.10:30525559:G:C Identity +NM_133474.4:c.2238T>G NP_597731.2:p.Ile746Met NC_000004.12:442228:A:C p.(Ile746Met) NC_000004.12:442228:A:C p.(Ile746Met) NC_000004.12:442228:A:C Identity +NM_133474.4:c.787A>G NP_597731.2:p.Ser263Gly NC_000004.12:443679:T:C p.(Ser263Gly) NC_000004.12:443679:T:C p.(Ser263Gly) NC_000004.12:443679:T:C Identity +NM_024702.3:c.304C>G NP_078978.2:p.Leu102Val NC_000017.11:82832150:G:C p.(Leu102Val) NC_000017.11:82832150:G:C p.(Leu102Val) NC_000017.11:82832150:G:C Identity +NM_001012753.2:c.746A>T NP_001012771.1:p.His249Leu NC_000019.10:11978660:A:T p.(His249Leu) NC_000019.10:11978660:A:T p.(His249Leu) NC_000019.10:11978660:A:T Identity +NM_001304334.2:c.712A>G NP_001291263.1:p.Ile238Val NC_000019.10:57506809:A:G p.(Ile238Val) NC_000019.10:57506809:A:G p.(Ile238Val) NC_000019.10:57506809:A:G Identity +NM_173632.4:c.253T>C NP_775903.3:p.Cys85Arg NC_000019.10:57753382:T:C p.(Cys85Arg) NC_000019.10:57753382:T:C p.(Cys85Arg) NC_000019.10:57753382:T:C Identity +NM_001002836.4:c.827C>T NP_001002836.2:p.Ala276Val NC_000019.10:56088344:G:A p.(Ala276Val) NC_000019.10:56088344:G:A p.(Ala276Val) NC_000019.10:56088344:G:A Identity +NM_001286696.2:c.970T>A NP_001273625.1:p.Phe324Ile NC_000009.12:127444741:T:A p.(Phe324Ile) NC_000009.12:127444741:T:A p.(Phe324Ile) NC_000009.12:127444741:T:A Identity +NM_001143835.2:c.854A>G NP_001137307.1:p.Asn285Ser NC_000011.10:129883168:T:C p.(Asn285Ser) NC_000011.10:129883168:T:C p.(Asn285Ser) NC_000011.10:129883168:T:C Identity +NM_001136036.3:c.1414C>T NP_001129508.1:p.Arg472Cys NC_000001.11:248850370:G:A p.(Arg472Cys) NC_000001.11:248850370:G:A p.(Arg472Cys) NC_000001.11:248850370:G:A Identity +NM_021217.3:c.185G>C NP_067040.1:p.Gly62Ala NC_000019.10:2936649:C:G p.(Gly62Ala) NC_000019.10:2936649:C:G p.(Gly62Ala) NC_000019.10:2936649:C:G Identity +NM_001304334.2:c.799G>C NP_001291263.1:p.Val267Leu NC_000019.10:57506896:G:C p.(Val267Leu) NC_000019.10:57506896:G:C p.(Val267Leu) NC_000019.10:57506896:G:C Identity +NM_001201407.2:c.692G>C NP_001188336.1:p.Gly231Ala NC_000016.10:89226979:G:C p.(Gly231Ala) NC_000016.10:89226979:G:C p.(Gly231Ala) NC_000016.10:89226979:G:C Identity +NM_001195220.2:c.1039C>T NP_001182149.1:p.Arg347Trp NC_000007.14:149281740:C:T p.(Arg347Trp) NC_000007.14:149281740:C:T p.(Arg347Trp) NC_000007.14:149281740:C:T Identity +NM_001286696.2:c.671C>A NP_001273625.1:p.Pro224His NC_000009.12:127444442:C:A p.(Pro224His) NC_000009.12:127444442:C:A p.(Pro224His) NC_000009.12:127444442:C:A Identity +NM_001198989.2:c.347C>T NP_001185918.1:p.Ala116Val NC_000020.11:35696437:G:A p.(Ala116Val) NC_000020.11:35696437:G:A p.(Ala116Val) NC_000020.11:35696437:G:A Identity +NM_007136.4:c.583G>T NP_009067.2:p.Gly195Trp NC_000003.12:114236491:C:A p.(Gly195Trp) NC_000003.12:114236491:C:A p.(Gly195Trp) NC_000003.12:114236491:C:A Identity +NM_001164457.3:c.785G>T NP_001157929.1:p.Gly262Val NC_000008.11:7358093:C:A p.(Gly262Val) NC_000008.11:7358093:C:A p.(Gly262Val) NC_000008.11:7358093:C:A Identity +NM_001100598.2:c.1019C>T NP_001094068.1:p.Thr340Met NC_000008.11:143694432:C:T p.(Thr340Met) NC_000008.11:143694432:C:T p.(Thr340Met) NC_000008.11:143694432:C:T Identity +NM_133474.4:c.2728G>A NP_597731.2:p.Ala910Thr NC_000004.12:441738:C:T p.(Ala910Thr) NC_000004.12:441738:C:T p.(Ala910Thr) NC_000004.12:441738:C:T Identity +NM_175872.5:c.883G>A NP_787068.3:p.Ala295Thr NC_000019.10:34958971:C:T p.(Ala295Thr) NC_000019.10:34958971:C:T p.(Ala295Thr) NC_000019.10:34958971:C:T Identity +NM_194250.2:c.2357A>G NP_919226.1:p.Asn786Ser NC_000002.12:184937752:A:G p.(Asn786Ser) NC_000002.12:184937752:A:G p.(Asn786Ser) NC_000002.12:184937752:A:G Identity +NM_001031665.4:c.989G>A NP_001026835.1:p.Cys330Tyr NC_000019.10:52950785:C:T p.(Cys330Tyr) NC_000019.10:52950785:C:T p.(Cys330Tyr) NC_000019.10:52950785:C:T Identity +NM_001306215.2:c.946C>T NP_001293144.1:p.Pro316Ser NC_000004.12:145902312:G:A p.(Pro316Ser) NC_000004.12:145902312:G:A p.(Pro316Ser) NC_000004.12:145902312:G:A Identity +NM_001278623.1:c.1694A>G NP_001265552.1:p.Gln565Arg NC_000004.12:47885627:T:C p.(Gln565Arg) NC_000004.12:47885627:T:C p.(Gln565Arg) NC_000004.12:47885627:T:C Identity +NM_001384354.1:c.3137G>A NP_001371283.1:p.Gly1046Glu NC_000020.11:59194155:G:A p.(Gly1046Glu) NC_000020.11:59194155:G:A p.(Gly1046Glu) NC_000020.11:59194155:G:A Identity +NM_001136501.3:c.1294C>T NP_001129973.1:p.Pro432Ser NC_000019.10:12076413:C:T p.(Pro432Ser) NC_000019.10:12076413:C:T p.(Pro432Ser) NC_000019.10:12076413:C:T Identity +NM_001256171.2:c.1495C>G NP_001243100.1:p.Leu499Val NC_000019.10:20949918:C:G p.(Leu499Val) NC_000019.10:20949918:C:G p.(Leu499Val) NC_000019.10:20949918:C:G Identity +NM_001193552.2:c.1798G>A NP_001180481.1:p.Val600Ile NC_000019.10:36749241:C:T p.(Val600Ile) NC_000019.10:36749241:C:T p.(Val600Ile) NC_000019.10:36749241:C:T Identity +NM_001136499.2:c.1334T>G NP_001129971.1:p.Val445Gly NC_000019.10:52066547:A:C p.(Val445Gly) NC_000019.10:52066547:A:C p.(Val445Gly) NC_000019.10:52066547:A:C Identity +NM_001077624.3:c.1549C>G NP_001071092.1:p.Gln517Glu NC_000019.10:9757527:G:C p.(Gln517Glu) NC_000019.10:9757527:G:C p.(Gln517Glu) NC_000019.10:9757527:G:C Identity +NM_001137674.3:c.496C>G NP_001131146.2:p.Leu166Val NC_000003.12:31989574:C:G p.(Leu166Val) NC_000003.12:31989574:C:G p.(Leu166Val) NC_000003.12:31989574:C:G Identity +NM_001256524.2:c.1042A>G NP_001243453.1:p.Ser348Gly NC_000022.11:20406074:A:G p.(Ser348Gly) NC_000022.11:20406074:A:G p.(Ser348Gly) NC_000022.11:20406074:A:G Identity +NM_001024596.3:c.188T>C NP_001019767.1:p.Met63Thr NC_000019.10:57475670:A:G p.(Met63Thr) NC_000019.10:57475670:A:G p.(Met63Thr) NC_000019.10:57475670:A:G Identity +NM_001329761.2:c.434A>T NP_001316690.1:p.Asp145Val NC_000019.10:37362282:A:T p.(Asp145Val) NC_000019.10:37362282:A:T p.(Asp145Val) NC_000019.10:37362282:A:T Identity +NM_021035.3:c.895C>A NP_066363.1:p.Gln299Lys NC_000020.11:49270916:G:T p.(Gln299Lys) NC_000020.11:49270916:G:T p.(Gln299Lys) NC_000020.11:49270916:G:T Identity +NM_007138.2:c.514C>G NP_009069.1:p.Pro172Ala NC_000019.10:20118067:C:G p.(Pro172Ala) NC_000019.10:20118067:C:G p.(Pro172Ala) NC_000019.10:20118067:C:G Identity +NM_001300951.2:c.3037A>G NP_001287880.1:p.Thr1013Ala NC_000019.10:23359845:T:C p.(Thr1013Ala) NC_000019.10:23359845:T:C p.(Thr1013Ala) NC_000019.10:23359845:T:C Identity +NM_001329761.2:c.1695G>C NP_001316690.1:p.Glu565Asp NC_000019.10:37363543:G:C p.(Glu565Asp) NC_000019.10:37363543:G:C p.(Glu565Asp) NC_000019.10:37363543:G:C Identity +NM_001145434.2:c.652G>A NP_001138906.1:p.Asp218Asn NC_000019.10:52384231:G:A p.(Asp218Asn) NC_000019.10:52384231:G:A p.(Asp218Asn) NC_000019.10:52384231:G:A Identity +NM_021035.3:c.4829A>T NP_066363.1:p.Asp1610Val NC_000020.11:49248194:T:A p.(Asp1610Val) NC_000020.11:49248194:T:A p.(Asp1610Val) NC_000020.11:49248194:T:A Identity +NM_001004309.3:c.500T>C NP_001004309.2:p.Ile167Thr NC_000015.10:90360330:T:C p.(Ile167Thr) NC_000015.10:90360330:T:C p.(Ile167Thr) NC_000015.10:90360330:T:C Identity +NM_001010880.3:c.331C>T NP_001010880.2:p.Leu111Phe NC_000019.10:40076110:G:A p.(Leu111Phe) NC_000019.10:40076110:G:A p.(Leu111Phe) NC_000019.10:40076110:G:A Identity +NM_001195220.2:c.7G>A NP_001182149.1:p.Glu3Lys NC_000007.14:149262339:G:A p.(Glu3Lys) NC_000007.14:149262339:G:A p.(Glu3Lys) NC_000007.14:149262339:G:A Identity +NM_001013659.3:c.872C>T NP_001013681.2:p.Ala291Val NC_000019.10:37537529:C:T p.(Ala291Val) NC_000019.10:37537529:C:T p.(Ala291Val) NC_000019.10:37537529:C:T Identity +NM_001286568.2:c.2338C>T NP_001273497.1:p.Arg780Cys NC_000002.12:135219084:G:A p.(Arg780Cys) NC_000002.12:135219084:G:A p.(Arg780Cys) NC_000002.12:135219084:G:A Identity +NM_001286568.2:c.1895A>G NP_001273497.1:p.Tyr632Cys NC_000002.12:135230571:T:C p.(Tyr632Cys) NC_000002.12:135230571:T:C p.(Tyr632Cys) NC_000002.12:135230571:T:C Identity +NM_001007072.2:c.137T>C NP_001007073.1:p.Leu46Pro NC_000015.10:84604063:T:C p.(Leu46Pro) NC_000015.10:84604063:T:C p.(Leu46Pro) NC_000015.10:84604063:T:C Identity +NM_001376231.1:c.92C>T NP_001363160.1:p.Ala31Val NC_000016.10:21211365:G:A p.(Ala31Val) NC_000016.10:21211365:G:A p.(Ala31Val) NC_000016.10:21211365:G:A Identity +NM_001321116.2:c.487A>G NP_001308045.1:p.Thr163Ala NC_000019.10:58338336:A:G p.(Thr163Ala) NC_000019.10:58338336:A:G p.(Thr163Ala) NC_000019.10:58338336:A:G Identity +NM_001384833.1:c.658A>G NP_001371762.1:p.Ile220Val NC_000019.10:57678260:A:G p.(Ile220Val) NC_000019.10:57678260:A:G p.(Ile220Val) NC_000019.10:57678260:A:G Identity +NM_001112734.4:c.335G>A NP_001106205.1:p.Arg112Gln NC_000018.10:35264017:C:T p.(Arg112Gln) NC_000018.10:35264017:C:T p.(Arg112Gln) NC_000018.10:35264017:C:T Identity +NM_001384833.1:c.599C>T NP_001371762.1:p.Ser200Leu NC_000019.10:57678201:C:T p.(Ser200Leu) NC_000019.10:57678201:C:T p.(Ser200Leu) NC_000019.10:57678201:C:T Identity +NM_001080456.5:c.1205A>C NP_001073925.2:p.Gln402Pro NC_000019.10:56190109:T:G p.(Gln402Pro) NC_000019.10:56190109:T:G p.(Gln402Pro) NC_000019.10:56190109:T:G Identity +NM_001130012.3:c.313G>A NP_001123484.1:p.Glu105Lys NC_000016.10:2029680:G:A p.(Glu105Lys) NC_000016.10:2029680:G:A p.(Glu105Lys) NC_000016.10:2029680:G:A Identity +NM_001002755.4:c.105G>C NP_001002755.1:p.Gln35His NC_000002.12:69431962:C:G p.(Gln35His) NC_000002.12:69431962:C:G p.(Gln35His) NC_000002.12:69431962:C:G Identity +NM_001007072.2:c.157T>A NP_001007073.1:p.Ser53Thr NC_000015.10:84604083:T:A p.(Ser53Thr) NC_000015.10:84604083:T:A p.(Ser53Thr) NC_000015.10:84604083:T:A Identity +NM_001168468.2:c.1297G>A NP_001161940.1:p.Gly433Arg NC_000011.10:119189013:G:A p.(Gly433Arg) NC_000011.10:119189013:G:A p.(Gly433Arg) NC_000011.10:119189013:G:A Identity +NM_001287821.2:c.238C>T NP_001274750.1:p.His80Tyr NC_000015.10:66520648:C:T p.(His80Tyr) NC_000015.10:66520648:C:T p.(His80Tyr) NC_000015.10:66520648:C:T Identity +NM_001004339.3:c.932C>T NP_001004339.2:p.Pro311Leu NC_000001.11:52857672:C:T p.(Pro311Leu) NC_000001.11:52857672:C:T p.(Pro311Leu) NC_000001.11:52857672:C:T Identity +NM_001101338.2:c.868G>A NP_001094808.1:p.Val290Met NC_000009.12:112997391:C:T p.(Val290Met) NC_000009.12:112997391:C:T p.(Val290Met) NC_000009.12:112997391:C:T Identity +NM_001145355.2:c.904T>C NP_001138827.1:p.Tyr302His NC_000009.12:122029:A:G p.(Tyr302His) NC_000009.12:122029:A:G p.(Tyr302His) NC_000009.12:122029:A:G Identity +NM_020883.2:c.421C>T NP_065934.1:p.Pro141Ser NC_000001.11:45205929:G:A p.(Pro141Ser) NC_000001.11:45205929:G:A p.(Pro141Ser) NC_000001.11:45205929:G:A Identity +NM_001040653.4:c.202G>T NP_001035743.1:p.Asp68Tyr NC_000003.12:126475663:C:A p.(Asp68Tyr) NC_000003.12:126475663:C:A p.(Asp68Tyr) NC_000003.12:126475663:C:A Identity +NM_015113.4:c.3502G>A NP_055928.3:p.Gly1168Ser NC_000017.11:4074332:C:T p.(Gly1168Ser) NC_000017.11:4074332:C:T p.(Gly1168Ser) NC_000017.11:4074332:C:T Identity +NM_001242487.2:c.4376G>A NP_001229416.1:p.Gly1459Asp NC_000010.11:73799215:G:A p.(Gly1459Asp) NC_000010.11:73799215:G:A p.(Gly1459Asp) NC_000010.11:73799215:G:A Identity +NM_001361189.2:c.1241A>G NP_001348118.1:p.Asn414Ser NC_000006.12:116651646:T:C p.(Asn414Ser) NC_000006.12:116651646:T:C p.(Asn414Ser) NC_000006.12:116651646:T:C Identity +NM_004724.4:c.451A>G NP_004715.1:p.Arg151Gly NC_000011.10:113760337:T:C p.(Arg151Gly) NC_000011.10:113760337:T:C p.(Arg151Gly) NC_000011.10:113760337:T:C Identity +NM_001004339.3:c.1120A>G NP_001004339.2:p.Met374Val NC_000001.11:52860841:A:G p.(Met374Val) NC_000001.11:52860841:A:G p.(Met374Val) NC_000001.11:52860841:A:G Identity +NM_005598.4:c.85G>A NP_005589.1:p.Gly29Arg NC_000001.11:160370815:G:A p.(Gly29Arg) NC_000001.11:160370815:G:A p.(Gly29Arg) NC_000001.11:160370815:G:A Identity +NM_001098524.2:c.841G>C NP_001091994.2:p.Ala281Pro NC_000019.10:17539382:G:C p.(Ala281Pro) NC_000019.10:17539382:G:C p.(Ala281Pro) NC_000019.10:17539382:G:C Identity +NM_001320445.2:c.1000C>T NP_001307374.1:p.Arg334Cys NC_000021.9:36359958:C:T p.(Arg334Cys) NC_000021.9:36359958:C:T p.(Arg334Cys) NC_000021.9:36359958:C:T Identity +NM_001098524.2:c.476G>T NP_001091994.2:p.Arg159Leu NC_000019.10:17533656:G:T p.(Arg159Leu) NC_000019.10:17533656:G:T p.(Arg159Leu) NC_000019.10:17533656:G:T Identity +NM_001206998.2:c.1570G>A NP_001193927.1:p.Gly524Ser NC_000022.11:29049750:G:A p.(Gly524Ser) NC_000022.11:29049750:G:A p.(Gly524Ser) NC_000022.11:29049750:G:A Identity +NM_001145293.2:c.1346T>C NP_001138765.1:p.Val449Ala NC_000003.12:25732343:A:G p.(Val449Ala) NC_000003.12:25732343:A:G p.(Val449Ala) NC_000003.12:25732343:A:G Identity +NM_001278469.3:c.611G>A NP_001265398.1:p.Arg204Lys NC_000012.12:62500827:G:A p.(Arg204Lys) NC_000012.12:62500827:G:A p.(Arg204Lys) NC_000012.12:62500827:G:A Identity +NM_001144060.2:c.4742G>A NP_001137532.1:p.Gly1581Asp NC_000006.12:138424159:C:T p.(Gly1581Asp) NC_000006.12:138424159:C:T p.(Gly1581Asp) NC_000006.12:138424159:C:T Identity +NM_022083.1:c.1418G>T NP_071366.1:p.Gly473Val NC_000001.11:184795739:C:A ERR:Data provider error: ValueError: Transcript NM_022083.1 not found ERR:Data provider error: ValueError: Transcript NM_022083.1 not found ERR:AlignmentMapper(tx_ac=NM_022083.1, alt_ac=NM_022083.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_022083.1, alt_ac=NM_022083.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_022083.1 not found +NM_052966.4:c.277G>C NP_443198.1:p.Val93Leu NC_000001.11:184894115:C:G p.(Val93Leu) NC_000001.11:184894115:C:G p.(Val93Leu) NC_000001.11:184894115:C:G Identity +NM_001035534.3:c.1811G>A NP_001030611.1:p.Arg604Gln NC_000009.12:127507235:C:T p.(Arg604Gln) NC_000009.12:127507235:C:T p.(Arg604Gln) NC_000009.12:127507235:C:T Identity +NM_001035534.3:c.328A>C NP_001030611.1:p.Lys110Gln NC_000009.12:127525111:T:G p.(Lys110Gln) NC_000009.12:127525111:T:G p.(Lys110Gln) NC_000009.12:127525111:T:G Identity +NM_001185092.2:c.67C>T NP_001172021.1:p.Pro23Ser NC_000001.11:161118849:C:T p.(Pro23Ser) NC_000001.11:161118849:C:T p.(Pro23Ser) NC_000001.11:161118849:C:T Identity +NM_001367834.3:c.2605T>C NP_001354763.1:p.Trp869Arg NC_000019.10:13830333:T:C p.(Trp869Arg) NC_000019.10:13830333:T:C p.(Trp869Arg) NC_000019.10:13830333:T:C Identity +NM_001185093.2:c.923G>A NP_001172022.1:p.Gly308Asp NC_000001.11:161120748:G:A p.(Gly308Asp) NC_000001.11:161120748:G:A p.(Gly308Asp) NC_000001.11:161120748:G:A Identity +NM_007156.5:c.166G>A NP_009087.1:p.Gly56Arg NC_000023.11:57910254:C:T p.(Gly56Arg) NC_000023.11:57910254:C:T p.(Gly56Arg) NC_000023.11:57910254:C:T Identity +NM_001010972.2:c.1157G>A NP_001010972.1:p.Arg386Gln NC_000007.14:143388500:G:A p.(Arg386Gln) NC_000007.14:143388500:G:A p.(Arg386Gln) NC_000007.14:143388500:G:A Identity +NM_001376146.1:c.667A>G NP_001363075.1:p.Asn223Asp NC_000001.11:77632687:T:C p.(Asn223Asp) NC_000001.11:77632687:T:C p.(Asn223Asp) NC_000001.11:77632687:T:C Identity +NM_014429.4:c.1177C>T NP_055244.3:p.Leu393Phe NC_000003.12:109054880:G:A p.(Leu393Phe) NC_000003.12:109054880:G:A p.(Leu393Phe) NC_000003.12:109054880:G:A Identity +NM_014360.4:c.455A>C NP_055175.2:p.Asp152Ala NC_000014.9:36581166:T:G p.(Asp152Ala) NC_000014.9:36581166:T:G p.(Asp152Ala) NC_000014.9:36581166:T:G Identity +NM_001363685.2:c.607C>T NP_001350614.1:p.Arg203Cys NC_000012.12:121653115:G:A p.(Arg203Cys) NC_000012.12:121653115:G:A p.(Arg203Cys) NC_000012.12:121653115:G:A Identity +NM_178844.4:c.520G>A NP_849172.2:p.Val174Met NC_000016.10:3564416:C:T p.(Val174Met) NC_000016.10:3564416:C:T p.(Val174Met) NC_000016.10:3564416:C:T Identity +NM_001007531.3:c.1112C>T NP_001007532.1:p.Ser371Phe NC_000006.12:28260482:C:T p.(Ser371Phe) NC_000006.12:28260482:C:T p.(Ser371Phe) NC_000006.12:28260482:C:T Identity +NM_033119.5:c.220A>G NP_149110.1:p.Thr74Ala NC_000016.10:50608320:A:G p.(Thr74Ala) NC_000016.10:50608320:A:G p.(Thr74Ala) NC_000016.10:50608320:A:G Identity +NM_001377351.1:c.238G>A NP_001364280.1:p.Asp80Asn NC_000003.12:23900905:C:T p.(Asp80Asn) NC_000003.12:23900905:C:T p.(Asp80Asn) NC_000003.12:23900905:C:T Identity +NM_020726.5:c.1730G>C NP_065777.1:p.Arg577Pro NC_000005.10:65810051:G:C p.(Arg577Pro) NC_000005.10:65810051:G:C p.(Arg577Pro) NC_000005.10:65810051:G:C Identity +NM_020921.4:c.2741A>T NP_065972.4:p.Gln914Leu NC_000014.9:50758288:T:A p.(Gln914Leu) NC_000014.9:50758288:T:A p.(Gln914Leu) NC_000014.9:50758288:T:A Identity +NM_015384.5:c.3434G>A NP_056199.2:p.Arg1145His NC_000005.10:37000501:G:A p.(Arg1145His) NC_000005.10:37000501:G:A p.(Arg1145His) NC_000005.10:37000501:G:A Identity +NM_007184.4:c.2788C>T NP_009115.3:p.Arg930Cys NC_000003.12:52488279:C:T p.(Arg930Cys) NC_000003.12:52488279:C:T p.(Arg930Cys) NC_000003.12:52488279:C:T Identity +NM_176822.4:c.1577C>T NP_789792.1:p.Thr526Ile NC_000011.10:7043602:C:T p.(Thr526Ile) NC_000011.10:7043602:C:T p.(Thr526Ile) NC_000011.10:7043602:C:T Identity +NM_001174081.3:c.1266C>G NP_001167552.1:p.Cys422Trp NC_000019.10:54982963:C:G p.(Cys422Trp) NC_000019.10:54982963:C:G p.(Cys422Trp) NC_000019.10:54982963:C:G Identity +NM_001130079.3:c.1433C>T NP_001123551.1:p.Pro478Leu NC_000001.11:112694589:C:T p.(Pro478Leu) NC_000001.11:112694589:C:T p.(Pro478Leu) NC_000001.11:112694589:C:T Identity +NM_001174081.3:c.764C>G NP_001167552.1:p.Pro255Arg NC_000019.10:54982461:C:G p.(Pro255Arg) NC_000019.10:54982461:C:G p.(Pro255Arg) NC_000019.10:54982461:C:G Identity +NM_007184.4:c.2180C>T NP_009115.3:p.Ala727Val NC_000003.12:52487671:C:T p.(Ala727Val) NC_000003.12:52487671:C:T p.(Ala727Val) NC_000003.12:52487671:C:T Identity +NM_007184.4:c.2675G>A NP_009115.3:p.Arg892His NC_000003.12:52488166:G:A p.(Arg892His) NC_000003.12:52488166:G:A p.(Arg892His) NC_000003.12:52488166:G:A Identity +NM_001324307.2:c.70G>A NP_001311236.1:p.Val24Met NC_000006.12:142078811:C:T p.(Val24Met) NC_000006.12:142078811:C:T p.(Val24Met) NC_000006.12:142078811:C:T Identity +NM_022451.11:c.205G>C NP_071896.8:p.Glu69Gln NC_000010.11:94361676:C:G p.(Glu69Gln) NC_000010.11:94361676:C:G p.(Glu69Gln) NC_000010.11:94361676:C:G Identity +NM_001363718.1:c.25G>A NP_001350647.1:p.Val9Ile NC_000020.11:63248876:C:T p.(Val9Ile) NC_000020.11:63248876:C:T p.(Val9Ile) NC_000020.11:63248876:C:T Identity +NM_020726.5:c.368C>G NP_065777.1:p.Thr123Arg NC_000005.10:65763025:C:G p.(Thr123Arg) NC_000005.10:65763025:C:G p.(Thr123Arg) NC_000005.10:65763025:C:G Identity +NM_176820.4:c.1638C>G NP_789790.2:p.Phe546Leu NC_000019.10:55732192:G:C p.(Phe546Leu) NC_000019.10:55732192:G:C p.(Phe546Leu) NC_000019.10:55732192:G:C Identity +NM_015658.4:c.2124G>C NP_056473.3:p.Glu708Asp NC_000001.11:945075:C:G p.(Glu708Asp) NC_000001.11:945075:C:G p.(Glu708Asp) NC_000001.11:945075:C:G Identity +NM_001363685.2:c.399C>G NP_001350614.1:p.Asn133Lys NC_000012.12:121654337:G:C p.(Asn133Lys) NC_000012.12:121654337:G:C p.(Asn133Lys) NC_000012.12:121654337:G:C Identity +NM_001199138.2:c.2656C>G NP_001186067.1:p.Leu886Val NC_000002.12:32235526:G:C p.(Leu886Val) NC_000002.12:32235526:G:C p.(Leu886Val) NC_000002.12:32235526:G:C Identity +NM_001353366.2:c.2569G>A NP_001340295.1:p.Ala857Thr NC_000007.14:156969685:G:A p.(Ala857Thr) NC_000007.14:156969685:G:A p.(Ala857Thr) NC_000007.14:156969685:G:A Identity +NM_001354849.2:c.1394A>G NP_001341778.1:p.Gln465Arg NC_000007.14:30452022:T:C p.(Gln465Arg) NC_000007.14:30452022:T:C p.(Gln465Arg) NC_000007.14:30452022:T:C Identity +NM_001284388.2:c.911C>T NP_001271317.1:p.Pro304Leu NC_000010.11:102159916:C:T p.(Pro304Leu) NC_000010.11:102159916:C:T p.(Pro304Leu) NC_000010.11:102159916:C:T Identity +NM_001391958.1:c.820C>A NP_001378887.1:p.Leu274Met NC_000011.10:7960791:G:T p.(Leu274Met) NC_000011.10:7960791:G:T p.(Leu274Met) NC_000011.10:7960791:G:T Identity +NM_015658.4:c.1381G>T NP_056473.3:p.Ala461Ser NC_000001.11:951188:C:A p.(Ala461Ser) NC_000001.11:951188:C:A p.(Ala461Ser) NC_000001.11:951188:C:A Identity +NM_001261406.2:c.137G>A NP_001248335.1:p.Ser46Asn NC_000009.12:13247680:C:T p.(Ser46Asn) NC_000009.12:13247680:C:T p.(Ser46Asn) NC_000009.12:13247680:C:T Identity +NM_000620.5:c.904T>C NP_000611.1:p.Cys302Arg NC_000012.12:117290374:A:G p.(Cys302Arg) NC_000012.12:117290374:A:G p.(Cys302Arg) NC_000012.12:117290374:A:G Identity +NM_000625.4:c.3281C>T NP_000616.3:p.Thr1094Ile NC_000017.11:27758953:G:A p.(Thr1094Ile) NC_000017.11:27758953:G:A p.(Thr1094Ile) NC_000017.11:27758953:G:A Identity +NM_015710.5:c.116G>C NP_056525.2:p.Arg39Pro NC_000019.10:47745674:G:C p.(Arg39Pro) NC_000019.10:47745674:G:C p.(Arg39Pro) NC_000019.10:47745674:G:C Identity +NM_015710.5:c.1174C>T NP_056525.2:p.Arg392Trp NC_000019.10:47755467:C:T p.(Arg392Trp) NC_000019.10:47755467:C:T p.(Arg392Trp) NC_000019.10:47755467:C:T Identity +NM_000620.5:c.3058G>A NP_000611.1:p.Val1020Met NC_000012.12:117234741:C:T p.(Val1020Met) NC_000012.12:117234741:C:T p.(Val1020Met) NC_000012.12:117234741:C:T Identity +NM_004557.4:c.3161C>T NP_004548.3:p.Pro1054Leu NC_000006.12:32203839:G:A p.(Pro1054Leu) NC_000006.12:32203839:G:A p.(Pro1054Leu) NC_000006.12:32203839:G:A Identity +NM_015718.3:c.901C>T NP_056533.1:p.His301Tyr NC_000006.12:155429037:G:A p.(His301Tyr) NC_000006.12:155429037:G:A p.(His301Tyr) NC_000006.12:155429037:G:A Identity +NM_001284388.2:c.565C>T NP_001271317.1:p.Pro189Ser NC_000010.11:102158171:C:T p.(Pro189Ser) NC_000010.11:102158171:C:T p.(Pro189Ser) NC_000010.11:102158171:C:T Identity +NM_001353366.2:c.1081A>G NP_001340295.1:p.Arg361Gly NC_000007.14:156952563:A:G p.(Arg361Gly) NC_000007.14:156952563:A:G p.(Arg361Gly) NC_000007.14:156952563:A:G Identity +NM_001330257.2:c.1528G>A NP_001317186.1:p.Glu510Lys NC_000017.11:47599678:G:A p.(Glu510Lys) NC_000017.11:47599678:G:A p.(Glu510Lys) NC_000017.11:47599678:G:A Identity +NM_001321307.1:c.1054A>G NP_001308236.1:p.Met352Val NC_000011.10:108176323:T:C p.(Met352Val) NC_000011.10:108176323:T:C p.(Met352Val) NC_000011.10:108176323:T:C Identity +NM_005286.4:c.191C>T NP_005277.2:p.Thr64Met NC_000020.11:64106640:G:A p.(Thr64Met) NC_000020.11:64106640:G:A p.(Thr64Met) NC_000020.11:64106640:G:A Identity +NM_004646.4:c.1451C>T NP_004637.1:p.Thr484Ile NC_000019.10:35846183:G:A p.(Thr484Ile) NC_000019.10:35846183:G:A p.(Thr484Ile) NC_000019.10:35846183:G:A Identity +NM_001354849.2:c.1066C>T NP_001341778.1:p.His356Tyr NC_000007.14:30452350:G:A p.(His356Tyr) NC_000007.14:30452350:G:A p.(His356Tyr) NC_000007.14:30452350:G:A Identity +NM_001284388.2:c.1727A>G NP_001271317.1:p.Glu576Gly NC_000010.11:102161048:A:G p.(Glu576Gly) NC_000010.11:102161048:A:G p.(Glu576Gly) NC_000010.11:102161048:A:G Identity +NM_001353366.2:c.736C>T NP_001340295.1:p.Leu246Phe NC_000007.14:156950472:C:T p.(Leu246Phe) NC_000007.14:156950472:C:T p.(Leu246Phe) NC_000007.14:156950472:C:T Identity +NM_001033714.3:c.646G>A NP_001028886.1:p.Val216Met NC_000012.12:6563643:C:T p.(Val216Met) NC_000012.12:6563643:C:T p.(Val216Met) NC_000012.12:6563643:C:T Identity +NM_000620.5:c.769G>C NP_000611.1:p.Glu257Gln NC_000012.12:117311548:C:G p.(Glu257Gln) NC_000012.12:117311548:C:G p.(Glu257Gln) NC_000012.12:117311548:C:G Identity +NM_000625.4:c.2738C>G NP_000616.3:p.Ser913Cys NC_000017.11:27762859:G:C p.(Ser913Cys) NC_000017.11:27762859:G:C p.(Ser913Cys) NC_000017.11:27762859:G:C Identity +NM_006985.4:c.394C>T NP_008916.2:p.Arg132Cys NC_000016.10:14945937:C:T p.(Arg132Cys) NC_000016.10:14945937:C:T p.(Arg132Cys) NC_000016.10:14945937:C:T Identity +NM_002517.4:c.454G>A NP_002508.2:p.Ala152Thr NC_000019.10:47032663:G:A p.(Ala152Thr) NC_000019.10:47032663:G:A p.(Ala152Thr) NC_000019.10:47032663:G:A Identity +NM_002518.4:c.1930A>G NP_002509.2:p.Ser644Gly NC_000002.12:100990357:A:G p.(Ser644Gly) NC_000002.12:100990357:A:G p.(Ser644Gly) NC_000002.12:100990357:A:G Identity +NM_001101648.2:c.3730C>G NP_001095118.1:p.Leu1244Val NC_000007.14:44515868:G:C p.(Leu1244Val) NC_000007.14:44515868:G:C p.(Leu1244Val) NC_000007.14:44515868:G:C Identity +NM_018958.3:c.1673C>A NP_061831.2:p.Thr558Lys NC_000015.10:24677539:C:A p.(Thr558Lys) NC_000015.10:24677539:C:A p.(Thr558Lys) NC_000015.10:24677539:C:A Identity +NM_001321086.2:c.620C>T NP_001308015.1:p.Ala207Val NC_000019.10:47041102:C:T p.(Ala207Val) NC_000019.10:47041102:C:T p.(Ala207Val) NC_000019.10:47041102:C:T Identity +NM_001144756.2:c.193G>A NP_001138228.1:p.Gly65Arg NC_000004.12:72128774:G:A p.(Gly65Arg) NC_000004.12:72128774:G:A p.(Gly65Arg) NC_000004.12:72128774:G:A Identity +NM_001206977.2:c.463A>G NP_001193906.1:p.Ile155Val NC_000012.12:100532474:A:G p.(Ile155Val) NC_000012.12:100532474:A:G p.(Ile155Val) NC_000012.12:100532474:A:G Identity +NM_014293.4:c.1456G>A NP_055108.2:p.Ala486Thr NC_000022.11:38822655:C:T p.(Ala486Thr) NC_000022.11:38822655:C:T p.(Ala486Thr) NC_000022.11:38822655:C:T Identity +NM_003889.4:c.78G>T NP_003880.3:p.Lys26Asn NC_000003.12:119807327:G:T p.(Lys26Asn) NC_000003.12:119807327:G:T p.(Lys26Asn) NC_000003.12:119807327:G:T Identity +NM_002523.3:c.227C>T NP_002514.1:p.Thr76Met NC_000007.14:98617687:C:T p.(Thr76Met) NC_000007.14:98617687:C:T p.(Thr76Met) NC_000007.14:98617687:C:T Identity +NM_022150.3:c.488C>T NP_071433.3:p.Ser163Phe NC_000007.14:25226676:G:A p.(Ser163Phe) NC_000007.14:25226676:G:A p.(Ser163Phe) NC_000007.14:25226676:G:A Identity +NM_000904.6:c.683A>G NP_000895.2:p.His228Arg NC_000006.12:3019641:A:G p.(His228Arg) NC_000006.12:3019641:A:G p.(His228Arg) NC_000006.12:3019641:A:G Identity +NM_005234.4:c.391A>G NP_005225.2:p.Ile131Val NC_000019.10:17236047:T:C p.(Ile131Val) NC_000019.10:17236047:T:C p.(Ile131Val) NC_000019.10:17236047:T:C Identity +NM_001369698.1:c.697G>A NP_001356627.1:p.Val233Ile NC_000017.11:81604684:C:T p.(Val233Ile) NC_000017.11:81604684:C:T p.(Val233Ile) NC_000017.11:81604684:C:T Identity +NM_001033047.3:c.1330A>G NP_001028219.1:p.Ile444Val NC_000004.12:105959110:A:G p.(Ile444Val) NC_000004.12:105959110:A:G p.(Ile444Val) NC_000004.12:105959110:A:G Identity +NM_000901.5:c.1777T>A NP_000892.2:p.Ser593Thr NC_000004.12:148260097:A:T p.(Ser593Thr) NC_000004.12:148260097:A:T p.(Ser593Thr) NC_000004.12:148260097:A:T Identity +NM_001261463.2:c.4213G>T NP_001248392.1:p.Ala1405Ser NC_000010.11:113604622:C:A p.(Ala1405Ser) NC_000010.11:113604622:C:A p.(Ala1405Ser) NC_000010.11:113604622:C:A Identity +NM_030759.5:c.64T>G NP_110386.2:p.Leu22Val NC_000010.11:63146241:T:G p.(Leu22Val) NC_000010.11:63146241:T:G p.(Leu22Val) NC_000010.11:63146241:T:G Identity +NM_003489.4:c.355A>T NP_003480.2:p.Met119Leu NC_000021.9:14967837:T:A p.(Met119Leu) NC_000021.9:14967837:T:A p.(Met119Leu) NC_000021.9:14967837:T:A Identity +NM_022782.4:c.2102C>A NP_073619.3:p.Thr701Lys NC_000012.12:123194524:G:T p.(Thr701Lys) NC_000012.12:123194524:G:T p.(Thr701Lys) NC_000012.12:123194524:G:T Identity +NM_001261463.2:c.1405A>G NP_001248392.1:p.Met469Val NC_000010.11:113640249:T:C p.(Met469Val) NC_000010.11:113640249:T:C p.(Met469Val) NC_000010.11:113640249:T:C Identity +NM_017778.3:c.1370G>A NP_060248.2:p.Ser457Asn NC_000008.11:38329588:C:T p.(Ser457Asn) NC_000008.11:38329588:C:T p.(Ser457Asn) NC_000008.11:38329588:C:T Identity +NM_001184935.2:c.1988C>A NP_001171864.1:p.Ala663Glu NC_000005.10:139848283:G:T p.(Ala663Glu) NC_000005.10:139848283:G:T p.(Ala663Glu) NC_000005.10:139848283:G:T Identity +NM_001184935.2:c.433A>G NP_001171864.1:p.Ser145Gly NC_000005.10:140042636:T:C p.(Ser145Gly) NC_000005.10:140042636:T:C p.(Ser145Gly) NC_000005.10:140042636:T:C Identity +NM_001276464.2:c.540C>G NP_001263393.1:p.His180Gln NC_000001.11:200048463:C:G p.(His180Gln) NC_000001.11:200048463:C:G p.(His180Gln) NC_000001.11:200048463:C:G Identity +NM_178564.4:c.1037C>T NP_848659.2:p.Ala346Val NC_000008.11:143837445:G:A p.(Ala346Val) NC_000008.11:143837445:G:A p.(Ala346Val) NC_000008.11:143837445:G:A Identity +NM_020645.3:c.343G>A NP_065696.1:p.Ala115Thr NC_000011.10:8987626:C:T p.(Ala115Thr) NC_000011.10:8987626:C:T p.(Ala115Thr) NC_000011.10:8987626:C:T Identity +NM_001270707.2:c.221T>C NP_001257636.1:p.Val74Ala NC_000006.12:30690155:A:G p.(Val74Ala) NC_000006.12:30690155:A:G p.(Val74Ala) NC_000006.12:30690155:A:G Identity +NM_001297736.2:c.715G>T NP_001284665.1:p.Asp239Tyr NC_000001.11:212738415:C:A p.(Asp239Tyr) NC_000001.11:212738415:C:A p.(Asp239Tyr) NC_000001.11:212738415:C:A Identity +NM_001134373.3:c.1409A>G NP_001127845.1:p.Tyr470Cys NC_000010.11:103090650:T:C p.(Tyr470Cys) NC_000010.11:103090650:T:C p.(Tyr470Cys) NC_000010.11:103090650:T:C Identity +NM_003872.3:c.859C>T NP_003863.2:p.Arg287Trp NC_000002.12:205725950:C:T p.(Arg287Trp) NC_000002.12:205725950:C:T p.(Arg287Trp) NC_000002.12:205725950:C:T Identity +NM_080723.5:c.179T>C NP_542454.3:p.Val60Ala NC_000006.12:24134505:T:C p.(Val60Ala) NC_000006.12:24134505:T:C p.(Val60Ala) NC_000006.12:24134505:T:C Identity +NM_001130969.3:c.410A>G NP_001124441.1:p.Gln137Arg NC_000009.12:137457624:T:C p.(Gln137Arg) NC_000009.12:137457624:T:C p.(Gln137Arg) NC_000009.12:137457624:T:C Identity +NM_001351115.2:c.340A>G NP_001338044.1:p.Ile114Val NC_000010.11:18616261:T:C p.(Ile114Val) NC_000010.11:18616261:T:C p.(Ile114Val) NC_000010.11:18616261:T:C Identity +NM_001351115.2:c.863C>A NP_001338044.1:p.Ala288Glu NC_000010.11:18586004:G:T p.(Ala288Glu) NC_000010.11:18586004:G:T p.(Ala288Glu) NC_000010.11:18586004:G:T Identity +NM_001193452.1:c.266T>C NP_001180381.1:p.Leu89Pro NC_000016.10:4694089:T:C p.(Leu89Pro) NC_000016.10:4694089:T:C p.(Leu89Pro) NC_000016.10:4694089:T:C Identity +NM_001159846.3:c.947A>G NP_001153318.1:p.Gln316Arg NC_000019.10:4357352:A:G p.(Gln316Arg) NC_000019.10:4357352:A:G p.(Gln316Arg) NC_000019.10:4357352:A:G Identity +NM_001199103.2:c.289C>T NP_001186032.1:p.Arg97Trp NC_000002.12:18584953:G:A p.(Arg97Trp) NC_000002.12:18584953:G:A p.(Arg97Trp) NC_000002.12:18584953:G:A Identity +NM_006181.3:c.82G>A NP_006172.1:p.Asp28Asn NC_000016.10:2471782:G:A p.(Asp28Asn) NC_000016.10:2471782:G:A p.(Asp28Asn) NC_000016.10:2471782:G:A Identity +NM_000250.2:c.685G>A NP_000241.1:p.Ala229Thr NC_000017.11:58279207:C:T p.(Ala229Thr) NC_000017.11:58279207:C:T p.(Ala229Thr) NC_000017.11:58279207:C:T Identity +NM_030952.3:c.1868T>G NP_112214.3:p.Val623Gly NC_000001.11:205303468:A:C p.(Val623Gly) NC_000001.11:205303468:A:C p.(Val623Gly) NC_000001.11:205303468:A:C Identity +NM_006184.6:c.287T>A NP_006175.2:p.Val96Asp NC_000019.10:48905795:T:A p.(Val96Asp) NC_000019.10:48905795:T:A p.(Val96Asp) NC_000019.10:48905795:T:A Identity +NM_015354.3:c.5147C>T NP_056169.1:p.Pro1716Leu NC_000009.12:129006574:C:T p.(Pro1716Leu) NC_000009.12:129006574:C:T p.(Pro1716Leu) NC_000009.12:129006574:C:T Identity +NM_001329452.2:c.270G>T NP_001316381.1:p.Gln90His NC_000001.11:232956418:G:T p.(Gln90His) NC_000001.11:232956418:G:T p.(Gln90His) NC_000001.11:232956418:G:T Identity +NM_001166461.2:c.223G>C NP_001159933.1:p.Glu75Gln NC_000023.11:154792164:C:G p.(Glu75Gln) NC_000023.11:154792164:C:G p.(Glu75Gln) NC_000023.11:154792164:C:G Identity +NM_177533.5:c.607G>A NP_803877.2:p.Gly203Ser NC_000014.9:105173082:C:T p.(Gly203Ser) NC_000014.9:105173082:C:T p.(Gly203Ser) NC_000014.9:105173082:C:T Identity +NM_001367553.1:c.50G>A NP_001354482.1:p.Arg17Gln NC_000007.14:2244623:G:A p.(Arg17Gln) NC_000007.14:2244623:G:A p.(Arg17Gln) NC_000007.14:2244623:G:A Identity +NM_001286561.2:c.3923C>T NP_001273490.1:p.Ser1308Leu NC_000011.10:72013579:G:A p.(Ser1308Leu) NC_000011.10:72013579:G:A p.(Ser1308Leu) NC_000011.10:72013579:G:A Identity +NM_001278312.2:c.3610G>A NP_001265241.1:p.Val1204Ile NC_000005.10:37294456:C:T p.(Val1204Ile) NC_000005.10:37294456:C:T p.(Val1204Ile) NC_000005.10:37294456:C:T Identity +NM_001318170.2:c.974G>A NP_001305099.1:p.Arg325His NC_000010.11:28089819:C:T p.(Arg325His) NC_000010.11:28089819:C:T p.(Arg325His) NC_000010.11:28089819:C:T Identity +NM_001010906.2:c.2377G>A NP_001010906.1:p.Gly793Arg NC_000008.11:28023330:C:T p.(Gly793Arg) NC_000008.11:28023330:C:T p.(Gly793Arg) NC_000008.11:28023330:C:T Identity +NM_015354.3:c.4397G>T NP_056169.1:p.Trp1466Leu NC_000009.12:129003416:G:T p.(Trp1466Leu) NC_000009.12:129003416:G:T p.(Trp1466Leu) NC_000009.12:129003416:G:T Identity +NM_001329434.2:c.3613G>C NP_001316363.2:p.Val1205Leu NC_000007.14:135626254:G:C p.(Val1205Leu) NC_000007.14:135626254:G:C p.(Val1205Leu) NC_000007.14:135626254:G:C Identity +NM_024923.4:c.3374C>T NP_079199.2:p.Ala1125Val NC_000003.12:13339950:G:A p.(Ala1125Val) NC_000003.12:13339950:G:A p.(Ala1125Val) NC_000003.12:13339950:G:A Identity +NM_024923.4:c.941A>G NP_079199.2:p.Gln314Arg NC_000003.12:13379597:T:C p.(Gln314Arg) NC_000003.12:13379597:T:C p.(Gln314Arg) NC_000003.12:13379597:T:C Identity +NM_001370443.1:c.371T>C NP_001357372.1:p.Met124Thr NC_000007.14:23187071:T:C p.(Met124Thr) NC_000007.14:23187071:T:C p.(Met124Thr) NC_000007.14:23187071:T:C Identity +NM_001286561.2:c.4721G>A NP_001273490.1:p.Arg1574His NC_000011.10:72009343:C:T p.(Arg1574His) NC_000011.10:72009343:C:T p.(Arg1574His) NC_000011.10:72009343:C:T Identity +NM_001330192.2:c.2315T>C NP_001317121.1:p.Ile772Thr NC_000012.12:68735243:T:C p.(Ile772Thr) NC_000012.12:68735243:T:C p.(Ile772Thr) NC_000012.12:68735243:T:C Identity +NM_018230.3:c.453G>C NP_060700.2:p.Trp151Cys NC_000001.11:229500815:C:G p.(Trp151Cys) NC_000001.11:229500815:C:G p.(Trp151Cys) NC_000001.11:229500815:C:G Identity +NM_001278209.2:c.2253A>T NP_001265138.1:p.Lys751Asn NC_000006.12:17637456:T:A p.(Lys751Asn) NC_000006.12:17637456:T:A p.(Lys751Asn) NC_000006.12:17637456:T:A Identity +NM_015231.3:c.3739G>A NP_056046.2:p.Glu1247Lys NC_000011.10:47786459:C:T p.(Glu1247Lys) NC_000011.10:47786459:C:T p.(Glu1247Lys) NC_000011.10:47786459:C:T Identity +NM_015354.3:c.26G>A NP_056169.1:p.Cys9Tyr NC_000009.12:128947744:G:A p.(Cys9Tyr) NC_000009.12:128947744:G:A p.(Cys9Tyr) NC_000009.12:128947744:G:A Identity +NM_015354.3:c.3065C>T NP_056169.1:p.Ser1022Phe NC_000009.12:128994419:C:T p.(Ser1022Phe) NC_000009.12:128994419:C:T p.(Ser1022Phe) NC_000009.12:128994419:C:T Identity +NM_024923.4:c.2102G>A NP_079199.2:p.Arg701Gln NC_000003.12:13360321:C:T p.(Arg701Gln) NC_000003.12:13360321:C:T p.(Arg701Gln) NC_000003.12:13360321:C:T Identity +NM_024923.4:c.4183G>A NP_079199.2:p.Ala1395Thr NC_000003.12:13328873:C:T p.(Ala1395Thr) NC_000003.12:13328873:C:T p.(Ala1395Thr) NC_000003.12:13328873:C:T Identity +NM_001370443.1:c.1085G>C NP_001357372.1:p.Gly362Ala NC_000007.14:23200482:G:C p.(Gly362Ala) NC_000007.14:23200482:G:C p.(Gly362Ala) NC_000007.14:23200482:G:C Identity +NM_001008564.2:c.1198G>A NP_001008564.1:p.Val400Ile NC_000013.11:25331356:G:A p.(Val400Ile) NC_000013.11:25331356:G:A p.(Val400Ile) NC_000013.11:25331356:G:A Identity +NM_001364716.4:c.2329G>A NP_001351645.2:p.Val777Ile NC_000017.11:17158930:G:A p.(Val777Ile) NC_000017.11:17158930:G:A p.(Val777Ile) NC_000017.11:17158930:G:A Identity +NM_001008564.2:c.280A>G NP_001008564.1:p.Thr94Ala NC_000013.11:25312911:A:G p.(Thr94Ala) NC_000013.11:25312911:A:G p.(Thr94Ala) NC_000013.11:25312911:A:G Identity +NM_017561.2:c.455C>A NP_060031.1:p.Ser152Tyr NC_000009.12:94325495:G:T p.(Ser152Tyr) NC_000009.12:94325495:G:T p.(Ser152Tyr) NC_000009.12:94325495:G:T Identity +NM_001007525.5:c.326A>T NP_001007526.3:p.Gln109Leu NC_000019.10:16744547:A:T p.(Gln109Leu) NC_000019.10:16744547:A:T p.(Gln109Leu) NC_000019.10:16744547:A:T Identity +NM_001007525.5:c.3335C>T NP_001007526.3:p.Ala1112Val NC_000019.10:16797761:C:T p.(Ala1112Val) NC_000019.10:16797761:C:T p.(Ala1112Val) NC_000019.10:16797761:C:T Identity +NM_001081491.2:c.544C>T NP_001074960.1:p.Arg182Trp NC_000011.10:62801955:G:A p.(Arg182Trp) NC_000011.10:62801955:G:A p.(Arg182Trp) NC_000011.10:62801955:G:A Identity +NM_001144990.2:c.869G>A NP_001138462.1:p.Arg290Gln NC_000004.12:37438962:G:A p.(Arg290Gln) NC_000004.12:37438962:G:A p.(Arg290Gln) NC_000004.12:37438962:G:A Identity +NM_138454.2:c.305C>T NP_612463.1:p.Pro102Leu NC_000019.10:17460564:G:A p.(Pro102Leu) NC_000019.10:17460564:G:A p.(Pro102Leu) NC_000019.10:17460564:G:A Identity +NM_182495.6:c.322A>G NP_872301.2:p.Ser108Gly NC_000011.10:114698233:A:G p.(Ser108Gly) NC_000011.10:114698233:A:G p.(Ser108Gly) NC_000011.10:114698233:A:G Identity +NM_015135.3:c.749T>C NP_055950.2:p.Ile250Thr NC_000007.14:135577895:T:C p.(Ile250Thr) NC_000007.14:135577895:T:C p.(Ile250Thr) NC_000007.14:135577895:T:C Identity +NM_001320653.2:c.614C>T NP_001307582.1:p.Pro205Leu NC_000017.11:5410768:G:A p.(Pro205Leu) NC_000017.11:5410768:G:A p.(Pro205Leu) NC_000017.11:5410768:G:A Identity +NM_001364716.4:c.5C>G NP_001351645.2:p.Ser2Trp NC_000017.11:17042852:C:G p.(Ser2Trp) NC_000017.11:17042852:C:G p.(Ser2Trp) NC_000017.11:17042852:C:G Identity +NM_182495.6:c.587C>G NP_872301.2:p.Pro196Arg NC_000011.10:114698498:C:G p.(Pro196Arg) NC_000011.10:114698498:C:G p.(Pro196Arg) NC_000011.10:114698498:C:G Identity +NM_024546.4:c.1682C>T NP_078822.3:p.Ser561Leu NC_000013.11:78616078:G:A p.(Ser561Leu) NC_000013.11:78616078:G:A p.(Ser561Leu) NC_000013.11:78616078:G:A Identity +NM_001077639.2:c.1274G>A NP_001071107.1:p.Gly425Glu NC_000011.10:114571298:C:T p.(Gly425Glu) NC_000011.10:114571298:C:T p.(Gly425Glu) NC_000011.10:114571298:C:T Identity +NM_024546.4:c.2138G>A NP_078822.3:p.Ser713Asn NC_000013.11:78615622:C:T p.(Ser713Asn) NC_000013.11:78615622:C:T p.(Ser713Asn) NC_000013.11:78615622:C:T Identity +NM_001098623.2:c.19888G>A NP_001092093.2:p.Val6630Ile NC_000001.11:228368841:G:A p.(Val6630Ile) NC_000001.11:228368841:G:A p.(Val6630Ile) NC_000001.11:228368841:G:A Identity +NM_001098623.2:c.6118G>A NP_001092093.2:p.Ala2040Thr NC_000001.11:228275923:G:A p.(Ala2040Thr) NC_000001.11:228275923:G:A p.(Ala2040Thr) NC_000001.11:228275923:G:A Identity +NM_000275.3:c.980T>C NP_000266.2:p.Val327Ala NC_000015.10:28014839:A:G p.(Val327Ala) NC_000015.10:28014839:A:G p.(Val327Ala) NC_000015.10:28014839:A:G Identity +NM_006188.4:c.269C>T NP_006179.2:p.Ala90Val NC_000007.14:97987081:G:A p.(Ala90Val) NC_000007.14:97987081:G:A p.(Ala90Val) NC_000007.14:97987081:G:A Identity +NM_178507.4:c.704G>A NP_848602.1:p.Arg235His NC_000011.10:120229023:G:A p.(Arg235His) NC_000011.10:120229023:G:A p.(Arg235His) NC_000011.10:120229023:G:A Identity +NM_001098623.2:c.4085C>T NP_001092093.2:p.Ala1362Val NC_000001.11:228250015:C:T p.(Ala1362Val) NC_000001.11:228250015:C:T p.(Ala1362Val) NC_000001.11:228250015:C:T Identity +NM_006039.5:c.1135A>C NP_006030.2:p.Lys379Gln NC_000017.11:62671665:A:C p.(Lys379Gln) NC_000017.11:62671665:A:C p.(Lys379Gln) NC_000017.11:62671665:A:C Identity +NM_001290020.2:c.2981C>G NP_001276949.1:p.Ala994Gly NC_000010.11:27860664:G:C p.(Ala994Gly) NC_000010.11:27860664:G:C p.(Ala994Gly) NC_000010.11:27860664:G:C Identity +NM_001350319.2:c.754C>T NP_001337248.1:p.Arg252Trp NC_000017.11:41938684:C:T p.(Arg252Trp) NC_000017.11:41938684:C:T p.(Arg252Trp) NC_000017.11:41938684:C:T Identity +NM_001330209.2:c.2475C>A NP_001317138.1:p.His825Gln NC_000023.11:13763850:C:A p.(His825Gln) NC_000023.11:13763850:C:A p.(His825Gln) NC_000023.11:13763850:C:A Identity +NM_001324266.2:c.1000G>A NP_001311195.1:p.Ala334Thr NC_000006.12:71301689:G:A p.(Ala334Thr) NC_000006.12:71301689:G:A p.(Ala334Thr) NC_000006.12:71301689:G:A Identity +NM_001282611.2:c.322A>T NP_001269540.1:p.Ile108Leu NC_000009.12:135095884:A:T p.(Ile108Leu) NC_000009.12:135095884:A:T p.(Ile108Leu) NC_000009.12:135095884:A:T Identity +NM_152635.3:c.7C>T NP_689848.1:p.Pro3Ser NC_000010.11:72893804:C:T p.(Pro3Ser) NC_000010.11:72893804:C:T p.(Pro3Ser) NC_000010.11:72893804:C:T Identity +NM_001098623.2:c.20722G>T NP_001092093.2:p.Ala6908Ser NC_000001.11:228371499:G:T p.(Ala6908Ser) NC_000001.11:228371499:G:T p.(Ala6908Ser) NC_000001.11:228371499:G:T Identity +NM_024578.3:c.394A>G NP_078854.1:p.Ile132Val NC_000019.10:17227140:A:G p.(Ile132Val) NC_000019.10:17227140:A:G p.(Ile132Val) NC_000019.10:17227140:A:G Identity +NM_018270.6:c.22G>A NP_060740.1:p.Gly8Ser NC_000020.11:62796544:G:A p.(Gly8Ser) NC_000020.11:62796544:G:A p.(Gly8Ser) NC_000020.11:62796544:G:A Identity +NM_001080488.2:c.406G>A NP_001073957.1:p.Ala136Thr NC_000019.10:1754067:G:A p.(Ala136Thr) NC_000019.10:1754067:G:A p.(Ala136Thr) NC_000019.10:1754067:G:A Identity +NM_006189.1:c.258C>G NP_006180.1:p.Asn86Lys NC_000011.10:77103096:C:G p.(Asn86Lys) NC_000011.10:77103096:C:G p.(Asn86Lys) NC_000011.10:77103096:C:G Identity +NM_000914.5:c.520C>G NP_000905.3:p.Pro174Ala NC_000006.12:154090054:C:G p.(Pro174Ala) NC_000006.12:154090054:C:G p.(Pro174Ala) NC_000006.12:154090054:C:G Identity +NM_001286352.3:c.221T>C NP_001273281.1:p.Val74Ala NC_000001.11:113980497:T:C p.(Val74Ala) NC_000001.11:113980497:T:C p.(Val74Ala) NC_000001.11:113980497:T:C Identity +NM_017570.5:c.2842G>A NP_060040.1:p.Val948Met NC_000008.11:144053237:C:T p.(Val948Met) NC_000008.11:144053237:C:T p.(Val948Met) NC_000008.11:144053237:C:T Identity +NM_001001953.1:c.815C>T NP_001001953.1:p.Ala272Val NC_000011.10:124023826:C:T p.(Ala272Val) NC_000011.10:124023826:C:T p.(Ala272Val) NC_000011.10:124023826:C:T Identity +NM_207186.2:c.557T>C NP_997069.2:p.Ile186Thr NC_000011.10:6877203:T:C p.(Ile186Thr) NC_000011.10:6877203:T:C p.(Ile186Thr) NC_000011.10:6877203:T:C Identity +NM_001370498.1:c.41T>G NP_001357427.1:p.Leu14Arg NC_000011.10:7485915:T:G p.(Leu14Arg) NC_000011.10:7485915:T:G p.(Leu14Arg) NC_000011.10:7485915:T:G Identity +NM_013939.2:c.863C>T NP_039227.1:p.Pro288Leu NC_000019.10:15728905:C:T p.(Pro288Leu) NC_000019.10:15728905:C:T p.(Pro288Leu) NC_000019.10:15728905:C:T Identity +NM_001004486.1:c.184T>C NP_001004486.1:p.Phe62Leu NC_000023.11:131544256:T:C p.(Phe62Leu) NC_000023.11:131544256:T:C p.(Phe62Leu) NC_000023.11:131544256:T:C Identity +NM_003553.3:c.283G>A NP_003544.2:p.Ala95Thr NC_000017.11:3398127:C:T p.(Ala95Thr) NC_000017.11:3398127:C:T p.(Ala95Thr) NC_000017.11:3398127:C:T Identity +NM_182487.4:c.514C>G NP_872293.2:p.Arg172Gly NC_000009.12:124799335:C:G p.(Arg172Gly) NC_000009.12:124799335:C:G p.(Arg172Gly) NC_000009.12:124799335:C:G Identity +NM_005014.3:c.1007G>A NP_005005.1:p.Arg336His NC_000009.12:92415410:C:T p.(Arg336His) NC_000009.12:92415410:C:T p.(Arg336His) NC_000009.12:92415410:C:T Identity +NM_001080507.3:c.374A>C NP_001073976.1:p.Glu125Ala NC_000006.12:73368859:T:G p.(Glu125Ala) NC_000006.12:73368859:T:G p.(Glu125Ala) NC_000006.12:73368859:T:G Identity +NM_030959.3:c.460G>A NP_112221.1:p.Ala154Thr NC_000006.12:29374827:C:T p.(Ala154Thr) NC_000006.12:29374827:C:T p.(Ala154Thr) NC_000006.12:29374827:C:T Identity +NM_030946.2:c.611C>A NP_112208.1:p.Ala204Glu NC_000006.12:29307299:C:A p.(Ala204Glu) NC_000006.12:29307299:C:A p.(Ala204Glu) NC_000006.12:29307299:C:A Identity +NM_014566.1:c.731A>G NP_055381.1:p.His244Arg NC_000017.11:3062876:T:C p.(His244Arg) NC_000017.11:3062876:T:C p.(His244Arg) NC_000017.11:3062876:T:C Identity +NM_001370639.4:c.18G>C NP_001357568.2:p.Gln6His NC_000016.10:3204263:G:C p.(Gln6His) NC_000016.10:3204263:G:C p.(Gln6His) NC_000016.10:3204263:G:C Identity +NM_001004451.1:c.406A>G NP_001004451.1:p.Met136Val NC_000009.12:122477520:T:C p.(Met136Val) NC_000009.12:122477520:T:C p.(Met136Val) NC_000009.12:122477520:T:C Identity +NM_001004684.1:c.658G>A NP_001004684.1:p.Val220Met NC_000011.10:6921658:G:A p.(Val220Met) NC_000011.10:6921658:G:A p.(Val220Met) NC_000011.10:6921658:G:A Identity +NM_001004460.2:c.650C>T NP_001004460.1:p.Ser217Leu NC_000011.10:6870403:C:T p.(Ser217Leu) NC_000011.10:6870403:C:T p.(Ser217Leu) NC_000011.10:6870403:C:T Identity +NM_012365.2:c.257T>C NP_036497.1:p.Leu86Ser NC_000007.14:144050657:T:C p.(Leu86Ser) NC_000007.14:144050657:T:C p.(Leu86Ser) NC_000007.14:144050657:T:C Identity +NM_012365.2:c.511C>A NP_036497.1:p.Pro171Thr NC_000007.14:144050911:C:A p.(Pro171Thr) NC_000007.14:144050911:C:A p.(Pro171Thr) NC_000007.14:144050911:C:A Identity +NM_001099280.3:c.1039C>T NP_001092750.2:p.Pro347Ser NC_000008.11:144200438:C:T p.(Pro347Ser) NC_000008.11:144200438:C:T p.(Pro347Ser) NC_000008.11:144200438:C:T Identity +NM_001005287.2:c.293C>T NP_001005287.1:p.Thr98Met NC_000007.14:144318416:C:T p.(Thr98Met) NC_000007.14:144318416:C:T p.(Thr98Met) NC_000007.14:144318416:C:T Identity +NM_012365.2:c.845A>T NP_036497.1:p.Asn282Ile NC_000007.14:144051245:A:T p.(Asn282Ile) NC_000007.14:144051245:A:T p.(Asn282Ile) NC_000007.14:144051245:A:T Identity +NM_001127174.3:c.401C>T NP_001120646.1:p.Thr134Ile NC_000018.10:50805181:G:A p.(Thr134Ile) NC_000018.10:50805181:G:A p.(Thr134Ile) NC_000018.10:50805181:G:A Identity +NM_001001919.1:c.725C>T NP_001001919.1:p.Ser242Leu NC_000009.12:104526484:G:A p.(Ser242Leu) NC_000009.12:104526484:G:A p.(Ser242Leu) NC_000009.12:104526484:G:A Identity +NM_001318014.2:c.560G>A NP_001304943.1:p.Cys187Tyr NC_000006.12:29462328:G:A p.(Cys187Tyr) NC_000006.12:29462328:G:A p.(Cys187Tyr) NC_000006.12:29462328:G:A Identity +NM_001001824.2:c.26A>G NP_001001824.1:p.Tyr9Cys NC_000001.11:248650858:T:C p.(Tyr9Cys) NC_000001.11:248650858:T:C p.(Tyr9Cys) NC_000001.11:248650858:T:C Identity +NM_001004691.1:c.659G>A NP_001004691.1:p.Arg220Gln NC_000001.11:248323909:C:T p.(Arg220Gln) NC_000001.11:248323909:C:T p.(Arg220Gln) NC_000001.11:248323909:C:T Identity +NM_173489.5:c.3392A>G NP_775760.3:p.Asp1131Gly NC_000005.10:41009307:T:C p.(Asp1131Gly) NC_000005.10:41009307:T:C p.(Asp1131Gly) NC_000005.10:41009307:T:C Identity +NM_001001824.2:c.766A>G NP_001001824.1:p.Met256Val NC_000001.11:248650118:T:C p.(Met256Val) NC_000001.11:248650118:T:C p.(Met256Val) NC_000001.11:248650118:T:C Identity +NM_001005236.3:c.149G>A NP_001005236.3:p.Arg50His NC_000009.12:122661863:G:A p.(Arg50His) NC_000009.12:122661863:G:A p.(Arg50His) NC_000009.12:122661863:G:A Identity +NM_001005234.1:c.347C>T NP_001005234.1:p.Ala116Val NC_000009.12:122675475:C:T p.(Ala116Val) NC_000009.12:122675475:C:T p.(Ala116Val) NC_000009.12:122675475:C:T Identity +NM_001004701.2:c.329T>C NP_001004701.2:p.Ile110Thr NC_000011.10:55572455:T:C p.(Ile110Thr) NC_000011.10:55572455:T:C p.(Ile110Thr) NC_000011.10:55572455:T:C Identity +NM_001004703.1:c.385C>T NP_001004703.1:p.His129Tyr NC_000011.10:54603613:G:A p.(His129Tyr) NC_000011.10:54603613:G:A p.(His129Tyr) NC_000011.10:54603613:G:A Identity +NM_001004707.4:c.532T>A NP_001004707.1:p.Tyr178Asn NC_000017.11:58170186:T:A p.(Tyr178Asn) NC_000017.11:58170186:T:A p.(Tyr178Asn) NC_000017.11:58170186:T:A Identity +NM_001005326.2:c.737T>C NP_001005326.1:p.Val246Ala NC_000015.10:101806455:T:C p.(Val246Ala) NC_000015.10:101806455:T:C p.(Val246Ala) NC_000015.10:101806455:T:C Identity +NM_002550.3:c.578C>G NP_002541.2:p.Ser193Cys NC_000017.11:3292004:G:C p.(Ser193Cys) NC_000017.11:3292004:G:C p.(Ser193Cys) NC_000017.11:3292004:G:C Identity +NM_001005274.1:c.223A>T NP_001005274.1:p.Met75Leu NC_000011.10:55343422:A:T p.(Met75Leu) NC_000011.10:55343422:A:T p.(Met75Leu) NC_000011.10:55343422:A:T Identity +NM_001004701.2:c.675C>G NP_001004701.2:p.Asn225Lys NC_000011.10:55572801:C:G p.(Asn225Lys) NC_000011.10:55572801:C:G p.(Asn225Lys) NC_000011.10:55572801:C:G Identity +NM_001005470.1:c.636G>T NP_001005470.1:p.Leu212Phe NC_000011.10:48217444:G:T p.(Leu212Phe) NC_000011.10:48217444:G:T p.(Leu212Phe) NC_000011.10:48217444:G:T Identity +NM_001004703.1:c.665C>A NP_001004703.1:p.Ser222Tyr NC_000011.10:54603333:G:T p.(Ser222Tyr) NC_000011.10:54603333:G:T p.(Ser222Tyr) NC_000011.10:54603333:G:T Identity +NM_001386095.1:c.451G>C NP_001373024.1:p.Gly151Arg NC_000017.11:58155603:G:C p.(Gly151Arg) NC_000017.11:58155603:G:C p.(Gly151Arg) NC_000017.11:58155603:G:C Identity +NM_001001657.1:c.62C>A NP_001001657.1:p.Pro21Gln NC_000005.10:180739996:G:T p.(Pro21Gln) NC_000005.10:180739996:G:T p.(Pro21Gln) NC_000005.10:180739996:G:T Identity +NM_001004725.1:c.17A>G NP_001004725.1:p.Asn6Ser NC_000011.10:48306238:A:G p.(Asn6Ser) NC_000011.10:48306238:A:G p.(Asn6Ser) NC_000011.10:48306238:A:G Identity +NM_001004723.3:c.848A>G NP_001004723.1:p.Asn283Ser NC_000014.9:19828295:A:G p.(Asn283Ser) NC_000014.9:19828295:A:G p.(Asn283Ser) NC_000014.9:19828295:A:G Identity +NM_001004727.1:c.194A>G NP_001004727.1:p.Tyr65Cys NC_000011.10:48245296:A:G p.(Tyr65Cys) NC_000011.10:48245296:A:G p.(Tyr65Cys) NC_000011.10:48245296:A:G Identity +NM_001004726.1:c.11C>T NP_001004726.1:p.Thr4Ile NC_000011.10:48263870:C:T p.(Thr4Ile) NC_000011.10:48263870:C:T p.(Thr4Ile) NC_000011.10:48263870:C:T Identity +NM_001004726.1:c.266T>A NP_001004726.1:p.Val89Asp NC_000011.10:48264125:T:A p.(Val89Asp) NC_000011.10:48264125:T:A p.(Val89Asp) NC_000011.10:48264125:T:A Identity +NM_152430.4:c.559G>A NP_689643.2:p.Val187Ile NC_000011.10:4653084:G:A p.(Val187Ile) NC_000011.10:4653084:G:A p.(Val187Ile) NC_000011.10:4653084:G:A Identity +NM_001005470.1:c.458A>C NP_001005470.1:p.His153Pro NC_000011.10:48217266:A:C p.(His153Pro) NC_000011.10:48217266:A:C p.(His153Pro) NC_000011.10:48217266:A:C Identity +NM_001005470.1:c.886A>G NP_001005470.1:p.Ile296Val NC_000011.10:48217694:A:G p.(Ile296Val) NC_000011.10:48217694:A:G p.(Ile296Val) NC_000011.10:48217694:A:G Identity +NM_001005270.4:c.809C>G NP_001005270.3:p.Ala270Gly NC_000011.10:49981692:G:C p.(Ala270Gly) NC_000011.10:49981692:G:C p.(Ala270Gly) NC_000011.10:49981692:G:C Identity +NM_001005240.3:c.896C>T NP_001005240.1:p.Ala299Val NC_000019.10:111573:C:T p.(Ala299Val) NC_000019.10:111573:C:T p.(Ala299Val) NC_000019.10:111573:C:T Identity +NM_001004758.1:c.913G>A NP_001004758.1:p.Glu305Lys NC_000011.10:4848295:C:T p.(Glu305Lys) NC_000011.10:4848295:C:T p.(Glu305Lys) NC_000011.10:4848295:C:T Identity +NM_001004759.3:c.254G>C NP_001004759.2:p.Gly85Ala NC_000011.10:4882152:G:C p.(Gly85Ala) NC_000011.10:4882152:G:C p.(Gly85Ala) NC_000011.10:4882152:G:C Identity +NM_001004052.1:c.453C>G NP_001004052.1:p.Ile151Met NC_000011.10:6169873:G:C p.(Ile151Met) NC_000011.10:6169873:G:C p.(Ile151Met) NC_000011.10:6169873:G:C Identity +NM_001001917.5:c.551A>C NP_001001917.3:p.Asn184Thr NC_000011.10:6027141:T:G p.(Asn184Thr) NC_000011.10:6027141:T:G p.(Asn184Thr) NC_000011.10:6027141:T:G Identity +NM_001100878.2:c.1744A>G NP_001094348.1:p.Ser582Gly NC_000008.11:143568161:T:C p.(Ser582Gly) NC_000008.11:143568161:T:C p.(Ser582Gly) NC_000008.11:143568161:T:C Identity +NM_001005167.2:c.761C>T NP_001005167.1:p.Thr254Ile NC_000011.10:5841136:G:A p.(Thr254Ile) NC_000011.10:5841136:G:A p.(Thr254Ile) NC_000011.10:5841136:G:A Identity +NM_001005164.2:c.682C>T NP_001005164.2:p.Arg228Cys NC_000011.10:5058945:G:A p.(Arg228Cys) NC_000011.10:5058945:G:A p.(Arg228Cys) NC_000011.10:5058945:G:A Identity +NM_001146033.1:c.401A>G NP_001139505.1:p.Gln134Arg NC_000011.10:5968093:T:C p.(Gln134Arg) NC_000011.10:5968093:T:C p.(Gln134Arg) NC_000011.10:5968093:T:C Identity +NM_001005567.3:c.904C>G NP_001005567.2:p.Leu302Val NC_000011.10:5342620:G:C p.(Leu302Val) NC_000011.10:5342620:G:C p.(Leu302Val) NC_000011.10:5342620:G:C Identity +NM_001100878.2:c.662T>C NP_001094348.1:p.Leu221Pro NC_000008.11:143570934:A:G p.(Leu221Pro) NC_000008.11:143570934:A:G p.(Leu221Pro) NC_000008.11:143570934:A:G Identity +NM_001002925.1:c.734C>G NP_001002925.1:p.Ser245Cys NC_000011.10:56641705:G:C p.(Ser245Cys) NC_000011.10:56641705:G:C p.(Ser245Cys) NC_000011.10:56641705:G:C Identity +NM_001005218.3:c.649T>G NP_001005218.1:p.Phe217Val NC_000011.10:58507456:A:C p.(Phe217Val) NC_000011.10:58507456:A:C p.(Phe217Val) NC_000011.10:58507456:A:C Identity +NM_054106.1:c.17G>A NP_473447.1:p.Gly6Glu NC_000003.12:98087188:G:A p.(Gly6Glu) NC_000003.12:98087188:G:A p.(Gly6Glu) NC_000003.12:98087188:G:A Identity +NM_001004729.2:c.320C>T NP_001004729.1:p.Thr107Met NC_000011.10:59364777:C:T p.(Thr107Met) NC_000011.10:59364777:C:T p.(Thr107Met) NC_000011.10:59364777:C:T Identity +NM_001004737.1:c.590T>C NP_001004737.1:p.Leu197Pro NC_000003.12:98498269:T:C p.(Leu197Pro) NC_000003.12:98498269:T:C p.(Leu197Pro) NC_000003.12:98498269:T:C Identity +NM_054106.1:c.239C>T NP_473447.1:p.Thr80Ile NC_000003.12:98087410:C:T p.(Thr80Ile) NC_000003.12:98087410:C:T p.(Thr80Ile) NC_000003.12:98087410:C:T Identity +NM_001001952.1:c.687G>T NP_001001952.1:p.Met229Ile NC_000011.10:55820315:G:T p.(Met229Ile) NC_000011.10:55820315:G:T p.(Met229Ile) NC_000011.10:55820315:G:T Identity +NM_001005169.1:c.611T>C NP_001005169.1:p.Leu204Pro NC_000011.10:4594648:T:C p.(Leu204Pro) NC_000011.10:4594648:T:C p.(Leu204Pro) NC_000011.10:4594648:T:C Identity +NM_001001922.2:c.121A>G NP_001001922.2:p.Thr41Ala NC_000011.10:5778513:T:C p.(Thr41Ala) NC_000011.10:5778513:T:C p.(Thr41Ala) NC_000011.10:5778513:T:C Identity +NM_001005516.1:c.262G>A NP_001005516.1:p.Glu88Lys NC_000003.12:98390926:G:A p.(Glu88Lys) NC_000003.12:98390926:G:A p.(Glu88Lys) NC_000003.12:98390926:G:A Identity +NM_001005182.2:c.817G>A NP_001005182.1:p.Ala273Thr NC_000012.12:55321415:G:A p.(Ala273Thr) NC_000012.12:55321415:G:A p.(Ala273Thr) NC_000012.12:55321415:G:A Identity +NM_001004742.3:c.178T>C NP_001004742.2:p.Phe60Leu NC_000011.10:56470319:A:G p.(Phe60Leu) NC_000011.10:56470319:A:G p.(Phe60Leu) NC_000011.10:56470319:A:G Identity +NM_001005499.1:c.250G>A NP_001005499.1:p.Val84Ile NC_000012.12:55469888:C:T p.(Val84Ile) NC_000012.12:55469888:C:T p.(Val84Ile) NC_000012.12:55469888:C:T Identity +NM_001005184.2:c.118G>A NP_001005184.2:p.Gly40Arg NC_000001.11:158755004:G:A p.(Gly40Arg) NC_000001.11:158755004:G:A p.(Gly40Arg) NC_000001.11:158755004:G:A Identity +NM_001004740.2:c.877C>T NP_001004740.1:p.Arg293Trp NC_000011.10:56612625:G:A p.(Arg293Trp) NC_000011.10:56612625:G:A p.(Arg293Trp) NC_000011.10:56612625:G:A Identity +NM_001004742.3:c.849G>T NP_001004742.2:p.Leu283Phe NC_000011.10:56469648:C:A p.(Leu283Phe) NC_000011.10:56469648:C:A p.(Leu283Phe) NC_000011.10:56469648:C:A Identity +NM_001163629.2:c.1061C>T NP_001157101.1:p.Ser354Phe NC_000001.11:170992195:C:T p.(Ser354Phe) NC_000001.11:170992195:C:T p.(Ser354Phe) NC_000001.11:170992195:C:T Identity +NM_001163629.2:c.522G>C NP_001157101.1:p.Glu174Asp NC_000001.11:170971788:G:C p.(Glu174Asp) NC_000001.11:170971788:G:C p.(Glu174Asp) NC_000001.11:170971788:G:C Identity +NM_001005184.2:c.670A>G NP_001005184.2:p.Ile224Val NC_000001.11:158755556:A:G p.(Ile224Val) NC_000001.11:158755556:A:G p.(Ile224Val) NC_000001.11:158755556:A:G Identity +NM_030901.2:c.455C>T NP_112163.1:p.Ala152Val NC_000019.10:14880900:G:A p.(Ala152Val) NC_000019.10:14880900:G:A p.(Ala152Val) NC_000019.10:14880900:G:A Identity +NM_001001958.1:c.928T>C NP_001001958.1:p.Ser310Pro NC_000019.10:9126022:A:G p.(Ser310Pro) NC_000019.10:9126022:A:G p.(Ser310Pro) NC_000019.10:9126022:A:G Identity +NM_002949.4:c.385C>T NP_002940.2:p.His129Tyr NC_000017.11:81706944:C:T p.(His129Tyr) NC_000017.11:81706944:C:T p.(His129Tyr) NC_000017.11:81706944:C:T Identity +NM_001005327.3:c.778C>T NP_001005327.2:p.Arg260Cys NC_000001.11:158717337:G:A p.(Arg260Cys) NC_000001.11:158717337:G:A p.(Arg260Cys) NC_000001.11:158717337:G:A Identity +NM_001005327.3:c.896C>T NP_001005327.2:p.Ala299Val NC_000001.11:158717219:G:A p.(Ala299Val) NC_000001.11:158717219:G:A p.(Ala299Val) NC_000001.11:158717219:G:A Identity +NM_001005189.2:c.700C>T NP_001005189.1:p.Pro234Ser NC_000001.11:158547405:G:A p.(Pro234Ser) NC_000001.11:158547405:G:A p.(Pro234Ser) NC_000001.11:158547405:G:A Identity +NM_001005190.2:c.505T>C NP_001005190.1:p.Cys169Arg NC_000019.10:14841372:A:G p.(Cys169Arg) NC_000019.10:14841372:A:G p.(Cys169Arg) NC_000019.10:14841372:A:G Identity +NM_001005199.2:c.94C>A NP_001005199.1:p.Leu32Ile NC_000011.10:56290968:G:T p.(Leu32Ile) NC_000011.10:56290968:G:T p.(Leu32Ile) NC_000011.10:56290968:G:T Identity +NM_001005201.1:c.185T>C NP_001005201.1:p.Phe62Ser NC_000011.10:56122556:T:C p.(Phe62Ser) NC_000011.10:56122556:T:C p.(Phe62Ser) NC_000011.10:56122556:T:C Identity +NM_001390849.1:c.764G>T NP_001377778.1:p.Gly255Val NC_000012.12:48526394:G:T p.(Gly255Val) NC_000012.12:48526394:G:T p.(Gly255Val) NC_000012.12:48526394:G:T Identity +NM_001005211.2:c.452G>A NP_001005211.1:p.Cys151Tyr NC_000011.10:58118992:C:T p.(Cys151Tyr) NC_000011.10:58118992:C:T p.(Cys151Tyr) NC_000011.10:58118992:C:T Identity +NM_152288.3:c.685C>T NP_689501.1:p.Arg229Trp NC_000016.10:30953640:C:T p.(Arg229Trp) NC_000016.10:30953640:C:T p.(Arg229Trp) NC_000016.10:30953640:C:T Identity +NM_001005199.2:c.254T>C NP_001005199.1:p.Leu85Ser NC_000011.10:56290808:A:G p.(Leu85Ser) NC_000011.10:56290808:A:G p.(Leu85Ser) NC_000011.10:56290808:A:G Identity +NM_001004058.2:c.367T>C NP_001004058.2:p.Tyr123His NC_000011.10:56159950:A:G p.(Tyr123His) NC_000011.10:56159950:A:G p.(Tyr123His) NC_000011.10:56159950:A:G Identity +NM_001001656.3:c.700C>G NP_001001656.1:p.Arg234Gly NC_000007.14:141919574:C:G p.(Arg234Gly) NC_000007.14:141919574:C:G p.(Arg234Gly) NC_000007.14:141919574:C:G Identity +NM_001005211.2:c.820G>A NP_001005211.1:p.Val274Met NC_000011.10:58118624:C:T p.(Val274Met) NC_000011.10:58118624:C:T p.(Val274Met) NC_000011.10:58118624:C:T Identity +NM_001190818.2:c.2554G>T NP_001177747.1:p.Asp852Tyr NC_000001.11:52373212:C:A p.(Asp852Tyr) NC_000001.11:52373212:C:A p.(Asp852Tyr) NC_000001.11:52373212:C:A Identity +NM_001004744.1:c.622A>T NP_001004744.1:p.Ile208Phe NC_000011.10:56417610:T:A p.(Ile208Phe) NC_000011.10:56417610:T:A p.(Ile208Phe) NC_000011.10:56417610:T:A Identity +NM_002556.3:c.1092G>C NP_002547.1:p.Glu364Asp NC_000011.10:59601314:C:G p.(Glu364Asp) NC_000011.10:59601314:C:G p.(Glu364Asp) NC_000011.10:59601314:C:G Identity +NM_001354347.2:c.1003A>G NP_001341276.2:p.Arg335Gly NC_000002.12:189752939:T:C p.(Arg335Gly) NC_000002.12:189752939:T:C p.(Arg335Gly) NC_000002.12:189752939:T:C Identity +NM_002556.3:c.2300A>G NP_002547.1:p.Tyr767Cys NC_000011.10:59576700:T:C p.(Tyr767Cys) NC_000011.10:59576700:T:C p.(Tyr767Cys) NC_000011.10:59576700:T:C Identity +NM_022776.5:c.385A>G NP_073613.2:p.Ser129Gly NC_000003.12:125579888:T:C p.(Ser129Gly) NC_000003.12:125579888:T:C p.(Ser129Gly) NC_000003.12:125579888:T:C Identity +NM_001282349.3:c.74C>T NP_001269278.1:p.Pro25Leu NC_000019.10:54097160:G:A p.(Pro25Leu) NC_000019.10:54097160:G:A p.(Pro25Leu) NC_000019.10:54097160:G:A Identity +NM_001168355.3:c.500G>T NP_001161827.1:p.Cys167Phe NC_000005.10:38883907:G:T p.(Cys167Phe) NC_000005.10:38883907:G:T p.(Cys167Phe) NC_000005.10:38883907:G:T Identity +NM_014180.4:c.82T>G NP_054899.2:p.Leu28Val NC_000005.10:154950824:T:G p.(Leu28Val) NC_000005.10:154950824:T:G p.(Leu28Val) NC_000005.10:154950824:T:G Identity +NM_198184.2:c.379C>T NP_937827.1:p.Arg127Trp NC_000003.12:191250097:C:T p.(Arg127Trp) NC_000003.12:191250097:C:T p.(Arg127Trp) NC_000003.12:191250097:C:T Identity +NM_001287489.2:c.5193G>T NP_001274418.1:p.Lys1731Asn NC_000002.12:26462180:C:A p.(Lys1731Asn) NC_000002.12:26462180:C:A p.(Lys1731Asn) NC_000002.12:26462180:C:A Identity +NM_177998.3:c.411C>G NP_819056.1:p.Ile137Met NC_000004.12:4212996:G:C p.(Ile137Met) NC_000004.12:4212996:G:C p.(Ile137Met) NC_000004.12:4212996:G:C Identity +NM_001145373.3:c.1325A>G NP_001138845.1:p.Asn442Ser NC_000010.11:23440781:A:G p.(Asn442Ser) NC_000010.11:23440781:A:G p.(Asn442Ser) NC_000010.11:23440781:A:G Identity +NM_015207.2:c.1056G>T NP_056022.1:p.Met352Ile NC_000001.11:19907604:G:T p.(Met352Ile) NC_000001.11:19907604:G:T p.(Met352Ile) NC_000001.11:19907604:G:T Identity +NM_001287489.2:c.2530C>A NP_001274418.1:p.His844Asn NC_000002.12:26477036:G:T p.(His844Asn) NC_000002.12:26477036:G:T p.(His844Asn) NC_000002.12:26477036:G:T Identity +NM_177998.3:c.1604A>T NP_819056.1:p.Gln535Leu NC_000004.12:4197229:T:A p.(Gln535Leu) NC_000004.12:4197229:T:A p.(Gln535Leu) NC_000004.12:4197229:T:A Identity +NM_019018.3:c.1034C>G NP_061891.1:p.Thr345Ser NC_000005.10:14610276:C:G p.(Thr345Ser) NC_000005.10:14610276:C:G p.(Thr345Ser) NC_000005.10:14610276:C:G Identity +NM_001368062.3:c.4268C>T NP_001354991.2:p.Thr1423Ile NC_000012.12:80333058:C:T p.(Thr1423Ile) NC_000012.12:80333058:C:T p.(Thr1423Ile) NC_000012.12:80333058:C:T Identity +NM_001368062.3:c.5848C>G NP_001354991.2:p.Arg1950Gly NC_000012.12:80356877:C:G p.(Arg1950Gly) NC_000012.12:80356877:C:G p.(Arg1950Gly) NC_000012.12:80356877:C:G Identity +NM_148961.4:c.236C>T NP_683764.1:p.Thr79Met NC_000002.12:240139203:G:A p.(Thr79Met) NC_000002.12:240139203:G:A p.(Thr79Met) NC_000002.12:240139203:G:A Identity +NM_001100878.2:c.595G>T NP_001094348.1:p.Ala199Ser NC_000008.11:143571673:C:A p.(Ala199Ser) NC_000008.11:143571673:C:A p.(Ala199Ser) NC_000008.11:143571673:C:A Identity +NM_001382637.1:c.2128G>C NP_001369566.1:p.Val710Leu NC_000015.10:31483967:C:G p.(Val710Leu) NC_000015.10:31483967:C:G p.(Val710Leu) NC_000015.10:31483967:C:G Identity +NM_080822.3:c.613G>A NP_543012.1:p.Gly205Ser NC_000017.11:2043032:G:A p.(Gly205Ser) NC_000017.11:2043032:G:A p.(Gly205Ser) NC_000017.11:2043032:G:A Identity +NM_001303461.1:c.237C>G NP_001290390.1:p.Asp79Glu NC_000020.11:18024830:G:C p.(Asp79Glu) NC_000020.11:18024830:G:C p.(Asp79Glu) NC_000020.11:18024830:G:C Identity +NM_005015.5:c.137C>G NP_005006.4:p.Pro46Arg NC_000014.9:22767320:C:G p.(Pro46Arg) NC_000014.9:22767320:C:G p.(Pro46Arg) NC_000014.9:22767320:C:G Identity +NM_001204519.2:c.1078T>G NP_001191448.1:p.Ser360Ala NC_000017.11:3679767:A:C p.(Ser360Ala) NC_000017.11:3679767:A:C p.(Ser360Ala) NC_000017.11:3679767:A:C Identity +NM_001367963.1:c.313G>A NP_001354892.1:p.Val105Ile NC_000011.10:7702306:C:T p.(Val105Ile) NC_000011.10:7702306:C:T p.(Val105Ile) NC_000011.10:7702306:C:T Identity +NM_148962.5:c.749G>A NP_683765.2:p.Gly250Asp NC_000002.12:42763313:C:T p.(Gly250Asp) NC_000002.12:42763313:C:T p.(Gly250Asp) NC_000002.12:42763313:C:T Identity +NM_002564.4:c.349C>A NP_002555.4:p.Leu117Ile NC_000011.10:73234507:C:A p.(Leu117Ile) NC_000011.10:73234507:C:A p.(Leu117Ile) NC_000011.10:73234507:C:A Identity +NM_006455.3:c.980G>A NP_006446.1:p.Ser327Asn NC_000017.11:41807940:C:T p.(Ser327Asn) NC_000017.11:41807940:C:T p.(Ser327Asn) NC_000017.11:41807940:C:T Identity +NM_001135653.2:c.1625C>T NP_001129125.1:p.Ala542Val NC_000001.11:39563656:G:A p.(Ala542Val) NC_000001.11:39563656:G:A p.(Ala542Val) NC_000001.11:39563656:G:A Identity +NM_001005282.1:c.758C>A NP_001005282.1:p.Thr253Asn NC_000011.10:56490612:G:T p.(Thr253Asn) NC_000011.10:56490612:G:T p.(Thr253Asn) NC_000011.10:56490612:G:T Identity +NM_001005281.3:c.419T>C NP_001005281.1:p.Leu140Pro NC_000007.14:144004414:T:C p.(Leu140Pro) NC_000007.14:144004414:T:C p.(Leu140Pro) NC_000007.14:144004414:T:C Identity +NM_001005494.2:c.421C>A NP_001005494.1:p.Gln141Lys NC_000012.12:55551646:C:A p.(Gln141Lys) NC_000012.12:55551646:C:A p.(Gln141Lys) NC_000012.12:55551646:C:A Identity +NM_002562.6:c.1637G>A NP_002553.3:p.Arg546Gln NC_000012.12:121184650:G:A p.(Arg546Gln) NC_000012.12:121184650:G:A p.(Arg546Gln) NC_000012.12:121184650:G:A Identity +NM_001081455.2:c.749A>G NP_001074924.1:p.His250Arg NC_000003.12:151213567:T:C p.(His250Arg) NC_000003.12:151213567:T:C p.(His250Arg) NC_000003.12:151213567:T:C Identity +NM_001170779.3:c.226C>T NP_001164250.1:p.Arg76Cys NC_000023.11:134829261:C:T p.(Arg76Cys) NC_000023.11:134829261:C:T p.(Arg76Cys) NC_000023.11:134829261:C:T Identity +NM_018026.4:c.685G>T NP_060496.2:p.Ala229Ser NC_000011.10:66216142:G:T p.(Ala229Ser) NC_000011.10:66216142:G:T p.(Ala229Ser) NC_000011.10:66216142:G:T Identity +NM_013358.3:c.1423G>A NP_037490.2:p.Glu475Lys NC_000001.11:17237422:G:A p.(Glu475Lys) NC_000001.11:17237422:G:A p.(Glu475Lys) NC_000001.11:17237422:G:A Identity +NM_016233.2:c.1076C>T NP_057317.2:p.Ala359Val NC_000001.11:17273367:C:T p.(Ala359Val) NC_000001.11:17273367:C:T p.(Ala359Val) NC_000001.11:17273367:C:T Identity +NM_016233.2:c.1079C>T NP_057317.2:p.Pro360Leu NC_000001.11:17273370:C:T p.(Pro360Leu) NC_000001.11:17273370:C:T p.(Pro360Leu) NC_000001.11:17273370:C:T Identity +NM_001079935.2:c.988C>T NP_001073404.1:p.His330Tyr NC_000019.10:9252030:C:T p.(His330Tyr) NC_000019.10:9252030:C:T p.(His330Tyr) NC_000019.10:9252030:C:T Identity +NM_001184974.2:c.296G>A NP_001171903.1:p.Arg99Gln NC_000011.10:47180605:C:T p.(Arg99Gln) NC_000011.10:47180605:C:T p.(Arg99Gln) NC_000011.10:47180605:C:T Identity +NM_016233.2:c.1256A>G NP_057317.2:p.Asn419Ser NC_000001.11:17274734:A:G p.(Asn419Ser) NC_000001.11:17274734:A:G p.(Asn419Ser) NC_000001.11:17274734:A:G Identity +NM_001128628.3:c.41C>T NP_001122100.1:p.Ala14Val NC_000015.10:40264825:C:T p.(Ala14Val) NC_000015.10:40264825:C:T p.(Ala14Val) NC_000015.10:40264825:C:T Identity +NM_001166108.2:c.498C>G NP_001159580.1:p.Ser166Arg NC_000004.12:168512001:C:G p.(Ser166Arg) NC_000004.12:168512001:C:G p.(Ser166Arg) NC_000004.12:168512001:C:G Identity +NM_017734.5:c.1378A>C NP_060204.1:p.Lys460Gln NC_000001.11:99689637:A:C p.(Lys460Gln) NC_000001.11:99689637:A:C p.(Lys460Gln) NC_000001.11:99689637:A:C Identity +NM_001256550.2:c.107G>C NP_001243479.1:p.Arg36Thr NC_000014.9:67279378:G:C p.(Arg36Thr) NC_000014.9:67279378:G:C p.(Arg36Thr) NC_000014.9:67279378:G:C Identity +NM_001303037.2:c.1385A>G NP_001289966.1:p.Glu462Gly NC_000007.14:24680458:A:G p.(Glu462Gly) NC_000007.14:24680458:A:G p.(Glu462Gly) NC_000007.14:24680458:A:G Identity +NM_001168251.1:c.1531A>G NP_001161723.1:p.Asn511Asp NC_000013.11:28266833:A:G ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found ERR:AlignmentMapper(tx_ac=NM_001168251.1, alt_ac=NM_001168251.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001168251.1, alt_ac=NM_001168251.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001168251.1 not found +NM_001005198.2:c.235C>G NP_001005198.2:p.Pro79Ala NC_000011.10:124265165:C:G p.(Pro79Ala) NC_000011.10:124265165:C:G p.(Pro79Ala) NC_000011.10:124265165:C:G Identity +NM_001005198.2:c.439G>A NP_001005198.2:p.Val147Met NC_000011.10:124265369:G:A p.(Val147Met) NC_000011.10:124265369:G:A p.(Val147Met) NC_000011.10:124265369:G:A Identity +NM_001005205.3:c.140C>T NP_001005205.2:p.Thr47Ile NC_000011.10:56360385:C:T p.(Thr47Ile) NC_000011.10:56360385:C:T p.(Thr47Ile) NC_000011.10:56360385:C:T Identity +NM_001005204.1:c.200C>T NP_001005204.1:p.Ala67Val NC_000011.10:56375822:C:T p.(Ala67Val) NC_000011.10:56375822:C:T p.(Ala67Val) NC_000011.10:56375822:C:T Identity +NM_001190818.2:c.254G>A NP_001177747.1:p.Arg85Gln NC_000001.11:52397832:C:T p.(Arg85Gln) NC_000001.11:52397832:C:T p.(Arg85Gln) NC_000001.11:52397832:C:T Identity +NM_001160300.2:c.1474G>A NP_001153772.1:p.Gly492Ser NC_000022.11:50178185:G:A p.(Gly492Ser) NC_000022.11:50178185:G:A p.(Gly492Ser) NC_000022.11:50178185:G:A Identity +NM_001365906.3:c.1149G>T NP_001352835.1:p.Gln383His NC_000014.9:73253807:G:T p.(Gln383His) NC_000014.9:73253807:G:T p.(Gln383His) NC_000014.9:73253807:G:T Identity +NM_020318.3:c.1679G>A NP_064714.2:p.Arg560His NC_000001.11:176595282:G:A p.(Arg560His) NC_000001.11:176595282:G:A p.(Arg560His) NC_000001.11:176595282:G:A Identity +NM_005443.5:c.1334G>A NP_005434.4:p.Arg445Gln NC_000004.12:107644973:C:T p.(Arg445Gln) NC_000004.12:107644973:C:T p.(Arg445Gln) NC_000004.12:107644973:C:T Identity +NM_178422.6:c.1009G>T NP_848509.1:p.Val337Leu NC_000001.11:25862830:C:A p.(Val337Leu) NC_000001.11:25862830:C:A p.(Val337Leu) NC_000001.11:25862830:C:A Identity +NM_000608.4:c.157G>A NP_000599.1:p.Glu53Lys NC_000009.12:114330475:G:A p.(Glu53Lys) NC_000009.12:114330475:G:A p.(Glu53Lys) NC_000009.12:114330475:G:A Identity +NM_001146289.2:c.40G>C NP_001139761.1:p.Ala14Pro NC_000001.11:42766931:C:G p.(Ala14Pro) NC_000001.11:42766931:C:G p.(Ala14Pro) NC_000001.11:42766931:C:G Identity +NM_001317895.2:c.193G>A NP_001304824.1:p.Val65Ile NC_000008.11:143986078:C:T p.(Val65Ile) NC_000008.11:143986078:C:T p.(Val65Ile) NC_000008.11:143986078:C:T Identity +NM_022750.4:c.755C>G NP_073587.1:p.Thr252Ser NC_000007.14:140056860:G:C p.(Thr252Ser) NC_000007.14:140056860:G:C p.(Thr252Ser) NC_000007.14:140056860:G:C Identity +NM_001003931.4:c.740G>A NP_001003931.4:p.Gly247Asp NC_000003.12:51945102:G:A p.(Gly247Asp) NC_000003.12:51945102:G:A p.(Gly247Asp) NC_000003.12:51945102:G:A Identity +NM_006437.4:c.2981G>A NP_006428.2:p.Arg994His NC_000013.11:24452438:C:T p.(Arg994His) NC_000013.11:24452438:C:T p.(Arg994His) NC_000013.11:24452438:C:T Identity +NM_001160300.2:c.1498G>C NP_001153772.1:p.Ala500Pro NC_000022.11:50178209:G:C p.(Ala500Pro) NC_000022.11:50178209:G:C p.(Ala500Pro) NC_000022.11:50178209:G:C Identity +NM_001284513.2:c.11C>T NP_001271442.1:p.Pro4Leu NC_000016.10:2971201:C:T p.(Pro4Leu) NC_000016.10:2971201:C:T p.(Pro4Leu) NC_000016.10:2971201:C:T Identity +NM_018135.4:c.482C>T NP_060605.1:p.Pro161Leu NC_000006.12:43671870:G:A p.(Pro161Leu) NC_000006.12:43671870:G:A p.(Pro161Leu) NC_000006.12:43671870:G:A Identity +NM_001252119.2:c.2245A>G NP_001239048.1:p.Ser749Gly NC_000002.12:241126669:T:C p.(Ser749Gly) NC_000002.12:241126669:T:C p.(Ser749Gly) NC_000002.12:241126669:T:C Identity +NM_007349.4:c.3029G>A NP_031375.3:p.Arg1010Gln NC_000007.14:154946706:C:T p.(Arg1010Gln) NC_000007.14:154946706:C:T p.(Arg1010Gln) NC_000007.14:154946706:C:T Identity +NM_133367.5:c.515A>G NP_588608.1:p.Tyr172Cys NC_000006.12:52403727:A:G p.(Tyr172Cys) NC_000006.12:52403727:A:G p.(Tyr172Cys) NC_000006.12:52403727:A:G Identity +NM_001321970.2:c.556C>T NP_001308899.1:p.Arg186Cys NC_000015.10:88477952:C:T p.(Arg186Cys) NC_000015.10:88477952:C:T p.(Arg186Cys) NC_000015.10:88477952:C:T Identity +NM_001302769.2:c.2219G>A NP_001289698.1:p.Gly740Asp NC_000002.12:205300562:G:A p.(Gly740Asp) NC_000002.12:205300562:G:A p.(Gly740Asp) NC_000002.12:205300562:G:A Identity +NM_001302769.2:c.374C>A NP_001289698.1:p.Thr125Asn NC_000002.12:204965302:C:A p.(Thr125Asn) NC_000002.12:204965302:C:A p.(Thr125Asn) NC_000002.12:204965302:C:A Identity +NM_001302769.2:c.55G>A NP_001289698.1:p.Gly19Ser NC_000002.12:204546053:G:A p.(Gly19Ser) NC_000002.12:204546053:G:A p.(Gly19Ser) NC_000002.12:204546053:G:A Identity +NM_013358.3:c.956A>G NP_037490.2:p.Glu319Gly NC_000001.11:17230110:A:G p.(Glu319Gly) NC_000001.11:17230110:A:G p.(Glu319Gly) NC_000001.11:17230110:A:G Identity +NM_001276718.2:c.1069G>A NP_001263647.1:p.Ala357Thr NC_000015.10:40272433:G:A p.(Ala357Thr) NC_000015.10:40272433:G:A p.(Ala357Thr) NC_000015.10:40272433:G:A Identity +NM_004561.4:c.232G>T NP_004552.2:p.Val78Leu NC_000011.10:65794161:G:T p.(Val78Leu) NC_000011.10:65794161:G:T p.(Val78Leu) NC_000011.10:65794161:G:T Identity +NM_000282.4:c.1964C>T NP_000273.2:p.Thr655Ile NC_000013.11:100515490:C:T p.(Thr655Ile) NC_000013.11:100515490:C:T p.(Thr655Ile) NC_000013.11:100515490:C:T Identity +NM_020815.3:c.1969G>A NP_065866.1:p.Val657Met NC_000004.12:133152108:G:A p.(Val657Met) NC_000004.12:133152108:G:A p.(Val657Met) NC_000004.12:133152108:G:A Identity +NM_001142769.3:c.5149C>T NP_001136241.1:p.Pro1717Ser NC_000010.11:53808915:G:A p.(Pro1717Ser) NC_000010.11:53808915:G:A p.(Pro1717Ser) NC_000010.11:53808915:G:A Identity +NM_001137605.3:c.499A>G NP_001131077.1:p.Ile167Val NC_000022.11:44190660:A:G p.(Ile167Val) NC_000022.11:44190660:A:G p.(Ile167Val) NC_000022.11:44190660:A:G Identity +NM_000280.6:c.18C>A NP_000271.1:p.Ser6Arg NC_000011.10:31802826:G:T p.(Ser6Arg) NC_000011.10:31802826:G:T p.(Ser6Arg) NC_000011.10:31802826:G:T Identity +NM_001324218.2:c.53C>A NP_001311147.1:p.Thr18Asn NC_000023.11:78960572:C:A p.(Thr18Asn) NC_000023.11:78960572:C:A p.(Thr18Asn) NC_000023.11:78960572:C:A Identity +NM_001267803.2:c.998A>T NP_001254732.1:p.Asp333Val NC_000011.10:73924644:A:T p.(Asp333Val) NC_000011.10:73924644:A:T p.(Asp333Val) NC_000011.10:73924644:A:T Identity +NM_001004065.4:c.2377G>A NP_001004065.2:p.Val793Met NC_000009.12:110138346:G:A p.(Val793Met) NC_000009.12:110138346:G:A p.(Val793Met) NC_000009.12:110138346:G:A Identity +NM_001004065.4:c.2417G>A NP_001004065.2:p.Arg806Gln NC_000009.12:110138386:G:A p.(Arg806Gln) NC_000009.12:110138386:G:A p.(Arg806Gln) NC_000009.12:110138386:G:A Identity +NM_001184974.2:c.83G>A NP_001171903.1:p.Arg28Gln NC_000011.10:47182530:C:T p.(Arg28Gln) NC_000011.10:47182530:C:T p.(Arg28Gln) NC_000011.10:47182530:C:T Identity +NM_001014831.3:c.439G>A NP_001014831.1:p.Gly147Ser NC_000019.10:39173151:G:A p.(Gly147Ser) NC_000019.10:39173151:G:A p.(Gly147Ser) NC_000019.10:39173151:G:A Identity +NM_001033083.2:c.470A>T NP_001028255.1:p.Asp157Val NC_000010.11:68288972:T:A p.(Asp157Val) NC_000010.11:68288972:T:A p.(Asp157Val) NC_000010.11:68288972:T:A Identity +NM_001278613.2:c.758A>C NP_001265542.1:p.Asn253Thr NC_000005.10:141868761:T:G p.(Asn253Thr) NC_000005.10:141868761:T:G p.(Asn253Thr) NC_000005.10:141868761:T:G Identity +NM_016580.4:c.1877C>A NP_057664.1:p.Ala626Glu NC_000005.10:141955974:G:T p.(Ala626Glu) NC_000005.10:141955974:G:T p.(Ala626Glu) NC_000005.10:141955974:G:T Identity +NM_024026.5:c.265G>T NP_076931.1:p.Ala89Ser NC_000013.11:21177180:G:T p.(Ala89Ser) NC_000013.11:21177180:G:T p.(Ala89Ser) NC_000013.11:21177180:G:T Identity +NM_020318.3:c.2647G>A NP_064714.2:p.Ala883Thr NC_000001.11:176695759:G:A p.(Ala883Thr) NC_000001.11:176695759:G:A p.(Ala883Thr) NC_000001.11:176695759:G:A Identity +NM_001184785.2:c.3667C>T NP_001171714.1:p.Arg1223Trp NC_000010.11:34119613:G:A p.(Arg1223Trp) NC_000010.11:34119613:G:A p.(Arg1223Trp) NC_000010.11:34119613:G:A Identity +NM_018904.3:c.1612C>T NP_061727.1:p.Arg538Cys NC_000005.10:140883879:C:T p.(Arg538Cys) NC_000005.10:140883879:C:T p.(Arg538Cys) NC_000005.10:140883879:C:T Identity +NM_018907.4:c.2258A>C NP_061730.1:p.Gln753Pro NC_000005.10:140809444:A:C p.(Gln753Pro) NC_000005.10:140809444:A:C p.(Gln753Pro) NC_000005.10:140809444:A:C Identity +NM_001145028.2:c.1331A>G NP_001138500.2:p.Glu444Gly NC_000019.10:14054340:T:C p.(Glu444Gly) NC_000019.10:14054340:T:C p.(Glu444Gly) NC_000019.10:14054340:T:C Identity +NM_001302769.2:c.3240G>T NP_001289698.1:p.Arg1080Ser NC_000002.12:205553382:G:T p.(Arg1080Ser) NC_000002.12:205553382:G:T p.(Arg1080Ser) NC_000002.12:205553382:G:T Identity +NM_001037639.3:c.485T>C NP_001032728.1:p.Leu162Pro NC_000003.12:183862778:A:G p.(Leu162Pro) NC_000003.12:183862778:A:G p.(Leu162Pro) NC_000003.12:183862778:A:G Identity +NM_001317895.2:c.623A>G NP_001304824.1:p.Glu208Gly NC_000008.11:143985497:T:C p.(Glu208Gly) NC_000008.11:143985497:T:C p.(Glu208Gly) NC_000008.11:143985497:T:C Identity +NM_001113523.3:c.751A>C NP_001106995.1:p.Asn251His NC_000003.12:122613247:A:C p.(Asn251His) NC_000003.12:122613247:A:C p.(Asn251His) NC_000003.12:122613247:A:C Identity +NM_001113523.3:c.938T>C NP_001106995.1:p.Ile313Thr NC_000003.12:122617101:T:C p.(Ile313Thr) NC_000003.12:122617101:T:C p.(Ile313Thr) NC_000003.12:122617101:T:C Identity +NM_018900.4:c.1001G>A NP_061723.1:p.Cys334Tyr NC_000005.10:140787290:G:A p.(Cys334Tyr) NC_000005.10:140787290:G:A p.(Cys334Tyr) NC_000005.10:140787290:G:A Identity +NM_018908.3:c.417A>C NP_061731.1:p.Leu139Phe NC_000005.10:140822191:A:C p.(Leu139Phe) NC_000005.10:140822191:A:C p.(Leu139Phe) NC_000005.10:140822191:A:C Identity +NM_001300900.2:c.136T>C NP_001287829.1:p.Ser46Pro NC_000016.10:1772983:A:G p.(Ser46Pro) NC_000016.10:1772983:A:G p.(Ser46Pro) NC_000016.10:1772983:A:G Identity +NM_018934.4:c.1930G>A NP_061757.1:p.Val644Ile NC_000005.10:141225434:G:A p.(Val644Ile) NC_000005.10:141225434:G:A p.(Val644Ile) NC_000005.10:141225434:G:A Identity +NM_020318.3:c.1577G>A NP_064714.2:p.Arg526His NC_000001.11:176595180:G:A p.(Arg526His) NC_000001.11:176595180:G:A p.(Arg526His) NC_000001.11:176595180:G:A Identity +NM_005443.5:c.1333C>T NP_005434.4:p.Arg445Trp NC_000004.12:107644974:G:A p.(Arg445Trp) NC_000004.12:107644974:G:A p.(Arg445Trp) NC_000004.12:107644974:G:A Identity +NM_001272104.2:c.553C>T NP_001259033.1:p.Arg185Cys NC_000001.11:156245197:G:A p.(Arg185Cys) NC_000001.11:156245197:G:A p.(Arg185Cys) NC_000001.11:156245197:G:A Identity +NM_001321970.2:c.44G>T NP_001308899.1:p.Trp15Leu NC_000015.10:88467760:G:T p.(Trp15Leu) NC_000015.10:88467760:G:T p.(Trp15Leu) NC_000015.10:88467760:G:T Identity +NM_001618.4:c.1792A>G NP_001609.2:p.Ser598Gly NC_000001.11:226377256:T:C p.(Ser598Gly) NC_000001.11:226377256:T:C p.(Ser598Gly) NC_000001.11:226377256:T:C Identity +NM_001618.4:c.2741A>G NP_001609.2:p.Asp914Gly NC_000001.11:226363987:T:C p.(Asp914Gly) NC_000001.11:226363987:T:C p.(Asp914Gly) NC_000001.11:226363987:T:C Identity +NM_001317895.2:c.2020C>T NP_001304824.1:p.Arg674Trp NC_000008.11:143983604:G:A p.(Arg674Trp) NC_000008.11:143983604:G:A p.(Arg674Trp) NC_000008.11:143983604:G:A Identity +NM_001003931.4:c.730A>G NP_001003931.4:p.Thr244Ala NC_000003.12:51945092:A:G p.(Thr244Ala) NC_000003.12:51945092:A:G p.(Thr244Ala) NC_000003.12:51945092:A:G Identity +NM_006437.4:c.3892A>C NP_006428.2:p.Thr1298Pro NC_000013.11:24435248:T:G p.(Thr1298Pro) NC_000013.11:24435248:T:G p.(Thr1298Pro) NC_000013.11:24435248:T:G Identity +NM_014005.5:c.1490G>T NP_054724.1:p.Arg497Leu NC_000005.10:140849984:G:T ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014005.5 not found +NM_021821.4:c.754A>G NP_068593.2:p.Ile252Val NC_000012.12:27755231:A:G p.(Ile252Val) NC_000012.12:27755231:A:G p.(Ile252Val) NC_000012.12:27755231:A:G Identity +NM_018934.4:c.781A>T NP_061757.1:p.Ile261Phe NC_000005.10:141224285:A:T p.(Ile261Phe) NC_000005.10:141224285:A:T p.(Ile261Phe) NC_000005.10:141224285:A:T Identity +NM_152716.3:c.760G>A NP_689929.2:p.Val254Ile NC_000011.10:59656008:C:T p.(Val254Ile) NC_000011.10:59656008:C:T p.(Val254Ile) NC_000011.10:59656008:C:T Identity +NM_018936.4:c.1851C>A NP_061759.1:p.Phe617Leu NC_000005.10:141096640:C:A p.(Phe617Leu) NC_000005.10:141096640:C:A p.(Phe617Leu) NC_000005.10:141096640:C:A Identity +NM_018912.3:c.974C>T NP_061735.1:p.Ala325Val NC_000005.10:141331657:C:T p.(Ala325Val) NC_000005.10:141331657:C:T p.(Ala325Val) NC_000005.10:141331657:C:T Identity +NM_018940.4:c.1510G>A NP_061763.1:p.Val504Ile NC_000005.10:141174344:G:A p.(Val504Ile) NC_000005.10:141174344:G:A p.(Val504Ile) NC_000005.10:141174344:G:A Identity +NM_018914.3:c.246C>A NP_061737.1:p.Ser82Arg NC_000005.10:141421472:C:A p.(Ser82Arg) NC_000005.10:141421472:C:A p.(Ser82Arg) NC_000005.10:141421472:C:A Identity +NM_001146102.2:c.1213A>G NP_001139574.1:p.Ile405Val NC_000003.12:122550801:T:C p.(Ile405Val) NC_000003.12:122550801:T:C p.(Ile405Val) NC_000003.12:122550801:T:C Identity +NM_001319988.2:c.1952C>T NP_001306917.1:p.Thr651Ile NC_000012.12:102196271:C:T p.(Thr651Ile) NC_000012.12:102196271:C:T p.(Thr651Ile) NC_000012.12:102196271:C:T Identity +NM_018920.4:c.107C>T NP_061743.1:p.Ser36Leu NC_000005.10:141383005:C:T p.(Ser36Leu) NC_000005.10:141383005:C:T p.(Ser36Leu) NC_000005.10:141383005:C:T Identity +NM_018918.3:c.1414T>A NP_061741.1:p.Phe472Ile NC_000005.10:141365743:T:A p.(Phe472Ile) NC_000005.10:141365743:T:A p.(Phe472Ile) NC_000005.10:141365743:T:A Identity +NM_018921.3:c.2098G>A NP_061744.1:p.Val700Ile NC_000005.10:141405049:G:A p.(Val700Ile) NC_000005.10:141405049:G:A p.(Val700Ile) NC_000005.10:141405049:G:A Identity +NM_018922.3:c.2276C>T NP_061745.1:p.Thr759Ile NC_000005.10:141352535:C:T p.(Thr759Ile) NC_000005.10:141352535:C:T p.(Thr759Ile) NC_000005.10:141352535:C:T Identity +NM_001317734.2:c.2101C>T NP_001304663.1:p.Arg701Trp NC_000001.11:154945031:G:A p.(Arg701Trp) NC_000001.11:154945031:G:A p.(Arg701Trp) NC_000001.11:154945031:G:A Identity +NM_018905.3:c.1483G>A NP_061728.1:p.Val495Met NC_000005.10:140796446:G:A p.(Val495Met) NC_000005.10:140796446:G:A p.(Val495Met) NC_000005.10:140796446:G:A Identity +NM_018906.3:c.1619C>G NP_061729.1:p.Ala540Gly NC_000005.10:140802815:C:G p.(Ala540Gly) NC_000005.10:140802815:C:G p.(Ala540Gly) NC_000005.10:140802815:C:G Identity +NM_001346413.3:c.1694G>A NP_001333342.1:p.Arg565Gln NC_000011.10:83166590:G:A p.(Arg565Gln) NC_000011.10:83166590:G:A p.(Arg565Gln) NC_000011.10:83166590:G:A Identity +NM_001318372.2:c.3385G>C NP_001305301.1:p.Asp1129His NC_000013.11:66304857:C:G p.(Asp1129His) NC_000013.11:66304857:C:G p.(Asp1129His) NC_000013.11:66304857:C:G Identity +NM_001308142.2:c.1486G>A NP_001295071.1:p.Val496Met NC_000016.10:14246745:G:A p.(Val496Met) NC_000016.10:14246745:G:A p.(Val496Met) NC_000016.10:14246745:G:A Identity +NM_001315529.2:c.1471G>A NP_001302458.1:p.Glu491Lys NC_000021.9:46355514:G:A p.(Glu491Lys) NC_000021.9:46355514:G:A p.(Glu491Lys) NC_000021.9:46355514:G:A Identity +NM_001201528.2:c.193C>T NP_001188457.1:p.His65Tyr NC_000020.11:17260311:C:T p.(His65Tyr) NC_000020.11:17260311:C:T p.(His65Tyr) NC_000020.11:17260311:C:T Identity +NM_016297.4:c.1074C>G NP_057381.3:p.Ser358Arg NC_000002.12:70276947:C:G p.(Ser358Arg) NC_000002.12:70276947:C:G p.(Ser358Arg) NC_000002.12:70276947:C:G Identity +NM_018932.4:c.1348G>A NP_061755.1:p.Ala450Thr NC_000005.10:141210254:G:A p.(Ala450Thr) NC_000005.10:141210254:G:A p.(Ala450Thr) NC_000005.10:141210254:G:A Identity +NM_001042467.3:c.1469G>A NP_001035932.1:p.Arg490Gln NC_000002.12:237546618:G:A p.(Arg490Gln) NC_000002.12:237546618:G:A p.(Arg490Gln) NC_000002.12:237546618:G:A Identity +NM_014005.5:c.1094T>C NP_054724.1:p.Leu365Pro NC_000005.10:140849588:T:C ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014005.5 not found +NM_018935.4:c.236T>C NP_061758.1:p.Leu79Pro NC_000005.10:141245813:T:C p.(Leu79Pro) NC_000005.10:141245813:T:C p.(Leu79Pro) NC_000005.10:141245813:T:C Identity +NM_018935.4:c.469G>A NP_061758.1:p.Ala157Thr NC_000005.10:141246046:G:A p.(Ala157Thr) NC_000005.10:141246046:G:A p.(Ala157Thr) NC_000005.10:141246046:G:A Identity +NM_018935.4:c.536A>G NP_061758.1:p.His179Arg NC_000005.10:141246113:A:G p.(His179Arg) NC_000005.10:141246113:A:G p.(His179Arg) NC_000005.10:141246113:A:G Identity +NM_001315529.2:c.4976G>T NP_001302458.1:p.Cys1659Phe NC_000021.9:46411402:G:T p.(Cys1659Phe) NC_000021.9:46411402:G:T p.(Cys1659Phe) NC_000021.9:46411402:G:T Identity +NM_001411058.1:c.5450A>G NP_001397987.1:p.Asp1817Gly NC_000010.11:103445379:A:G p.(Asp1817Gly) NC_000010.11:103445379:A:G p.(Asp1817Gly) NC_000010.11:103445379:A:G Identity +NM_001258312.3:c.1583C>T NP_001245241.1:p.Ser528Phe NC_000002.12:182147145:G:A p.(Ser528Phe) NC_000002.12:182147145:G:A p.(Ser528Phe) NC_000002.12:182147145:G:A Identity +NM_000921.5:c.2219A>G NP_000912.3:p.His740Arg NC_000012.12:20639924:A:G p.(His740Arg) NC_000012.12:20639924:A:G p.(His740Arg) NC_000012.12:20639924:A:G Identity +NM_000923.6:c.748G>A NP_000914.2:p.Glu250Lys NC_000019.10:18220279:C:T p.(Glu250Lys) NC_000019.10:18220279:C:T p.(Glu250Lys) NC_000019.10:18220279:C:T Identity +NM_018912.3:c.856C>G NP_061735.1:p.His286Asp NC_000005.10:141331539:C:G p.(His286Asp) NC_000005.10:141331539:C:G p.(His286Asp) NC_000005.10:141331539:C:G Identity +NM_018934.4:c.677C>T NP_061757.1:p.Thr226Ile NC_000005.10:141224181:C:T p.(Thr226Ile) NC_000005.10:141224181:C:T p.(Thr226Ile) NC_000005.10:141224181:C:T Identity +NM_015669.5:c.892G>T NP_056484.2:p.Ala298Ser NC_000005.10:141136325:G:T p.(Ala298Ser) NC_000005.10:141136325:G:T p.(Ala298Ser) NC_000005.10:141136325:G:T Identity +NM_031457.2:c.658A>G NP_113645.1:p.Ile220Val NC_000011.10:60715318:A:G p.(Ile220Val) NC_000011.10:60715318:A:G p.(Ile220Val) NC_000011.10:60715318:A:G Identity +NM_006810.4:c.1309A>G NP_006801.1:p.Thr437Ala NC_000003.12:123155005:A:G p.(Thr437Ala) NC_000003.12:123155005:A:G p.(Thr437Ala) NC_000003.12:123155005:A:G Identity +NM_006810.4:c.539C>G NP_006801.1:p.Pro180Arg NC_000003.12:123111001:C:G p.(Pro180Arg) NC_000003.12:123111001:C:G p.(Pro180Arg) NC_000003.12:123111001:C:G Identity +NM_001371244.1:c.1309A>C NP_001358173.1:p.Ser437Arg NC_000007.14:149005356:T:G p.(Ser437Arg) NC_000007.14:149005356:T:G p.(Ser437Arg) NC_000007.14:149005356:T:G Identity +NM_001322117.1:c.1059G>C NP_001309046.1:p.Lys353Asn NC_000016.10:70136254:G:C p.(Lys353Asn) NC_000016.10:70136254:G:C p.(Lys353Asn) NC_000016.10:70136254:G:C Identity +NM_178140.4:c.6619T>G NP_835260.2:p.Ser2207Ala NC_000005.10:32090066:T:G p.(Ser2207Ala) NC_000005.10:32090066:T:G p.(Ser2207Ala) NC_000005.10:32090066:T:G Identity +NM_001042467.3:c.949G>C NP_001035932.1:p.Glu317Gln NC_000002.12:237527444:G:C p.(Glu317Gln) NC_000002.12:237527444:G:C p.(Glu317Gln) NC_000002.12:237527444:G:C Identity +NM_005451.5:c.614C>T NP_005442.2:p.Thr205Ile NC_000005.10:177489790:G:A p.(Thr205Ile) NC_000005.10:177489790:G:A p.(Thr205Ile) NC_000005.10:177489790:G:A Identity +NM_178140.4:c.2105C>T NP_835260.2:p.Ser702Leu NC_000005.10:32058007:C:T p.(Ser702Leu) NC_000005.10:32058007:C:T p.(Ser702Leu) NC_000005.10:32058007:C:T Identity +NM_018919.3:c.1288C>A NP_061742.1:p.Pro430Thr NC_000005.10:141375370:C:A p.(Pro430Thr) NC_000005.10:141375370:C:A p.(Pro430Thr) NC_000005.10:141375370:C:A Identity +NM_001386906.1:c.2131A>G NP_001373835.1:p.Ile711Val NC_000005.10:141410332:A:G p.(Ile711Val) NC_000005.10:141410332:A:G p.(Ile711Val) NC_000005.10:141410332:A:G Identity +NM_014938.6:c.1714A>G NP_055753.3:p.Asn572Asp NC_000012.12:122133968:A:G p.(Asn572Asp) NC_000012.12:122133968:A:G p.(Asn572Asp) NC_000012.12:122133968:A:G Identity +NM_001080471.3:c.220A>G NP_001073940.1:p.Thr74Ala NC_000001.11:156905336:A:G p.(Thr74Ala) NC_000001.11:156905336:A:G p.(Thr74Ala) NC_000001.11:156905336:A:G Identity +NM_021255.3:c.666A>C NP_067078.1:p.Glu222Asp NC_000014.9:56290425:A:C p.(Glu222Asp) NC_000014.9:56290425:A:C p.(Glu222Asp) NC_000014.9:56290425:A:C Identity +NM_002440.4:c.56C>T NP_002431.2:p.Ser19Leu NC_000001.11:75797040:C:T p.(Ser19Leu) NC_000001.11:75797040:C:T p.(Ser19Leu) NC_000001.11:75797040:C:T Identity +NM_002440.4:c.878T>C NP_002431.2:p.Val293Ala NC_000001.11:75816434:T:C p.(Val293Ala) NC_000001.11:75816434:T:C p.(Val293Ala) NC_000001.11:75816434:T:C Identity +NM_014801.4:c.3071C>A NP_055616.3:p.Pro1024Gln NC_000001.11:233179170:G:T p.(Pro1024Gln) NC_000001.11:233179170:G:T p.(Pro1024Gln) NC_000001.11:233179170:G:T Identity +NM_002588.4:c.958A>T NP_002579.2:p.Ile320Phe NC_000005.10:141477073:A:T p.(Ile320Phe) NC_000005.10:141477073:A:T p.(Ile320Phe) NC_000005.10:141477073:A:T Identity +NM_001308142.2:c.1483C>A NP_001295071.1:p.Arg495Ser NC_000016.10:14246742:C:A p.(Arg495Ser) NC_000016.10:14246742:C:A p.(Arg495Ser) NC_000016.10:14246742:C:A Identity +NM_001315507.2:c.2932A>G NP_001302436.2:p.Met978Val NC_000008.11:17966074:A:G p.(Met978Val) NC_000008.11:17966074:A:G p.(Met978Val) NC_000008.11:17966074:A:G Identity +NM_001322250.2:c.799G>A NP_001309179.1:p.Gly267Arg NC_000017.11:57674991:G:A p.(Gly267Arg) NC_000017.11:57674991:G:A p.(Gly267Arg) NC_000017.11:57674991:G:A Identity +NM_001012241.2:c.383G>A NP_001012241.1:p.Arg128Gln NC_000017.11:40129423:G:A p.(Arg128Gln) NC_000017.11:40129423:G:A p.(Arg128Gln) NC_000017.11:40129423:G:A Identity +NM_001385026.1:c.4286C>T NP_001371955.1:p.Thr1429Met NC_000015.10:77115110:G:A p.(Thr1429Met) NC_000015.10:77115110:G:A p.(Thr1429Met) NC_000015.10:77115110:G:A Identity +NM_001080471.3:c.1684C>T NP_001073940.1:p.Arg562Cys NC_000001.11:156910238:C:T p.(Arg562Cys) NC_000001.11:156910238:C:T p.(Arg562Cys) NC_000001.11:156910238:C:T Identity +NM_021255.3:c.461G>A NP_067078.1:p.Arg154Gln NC_000014.9:56288587:G:A p.(Arg154Gln) NC_000014.9:56288587:G:A p.(Arg154Gln) NC_000014.9:56288587:G:A Identity +NM_001077196.2:c.523G>A NP_001070664.1:p.Asp175Asn NC_000002.12:177728105:C:T p.(Asp175Asn) NC_000002.12:177728105:C:T p.(Asp175Asn) NC_000002.12:177728105:C:T Identity +NM_000924.4:c.107G>C NP_000915.1:p.Arg36Pro NC_000012.12:54549978:G:C p.(Arg36Pro) NC_000012.12:54549978:G:C p.(Arg36Pro) NC_000012.12:54549978:G:C Identity +NM_001037339.2:c.158A>G NP_001032416.1:p.Glu53Gly NC_000001.11:66332546:A:G p.(Glu53Gly) NC_000001.11:66332546:A:G p.(Glu53Gly) NC_000001.11:66332546:A:G Identity +NM_018945.4:c.1346G>A NP_061818.1:p.Ser449Asn NC_000006.12:136191832:G:A p.(Ser449Asn) NC_000006.12:136191832:G:A p.(Ser449Asn) NC_000006.12:136191832:G:A Identity +NM_021259.3:c.1771G>A NP_067082.2:p.Asp591Asn NC_000016.10:374135:C:T p.(Asp591Asn) NC_000016.10:374135:C:T p.(Asp591Asn) NC_000016.10:374135:C:T Identity +NM_021259.3:c.1857G>T NP_067082.2:p.Trp619Cys NC_000016.10:374049:C:A p.(Trp619Cys) NC_000016.10:374049:C:A p.(Trp619Cys) NC_000016.10:374049:C:A Identity +NM_174924.2:c.206A>G NP_777584.1:p.Asn69Ser NC_000016.10:20384847:T:C p.(Asn69Ser) NC_000016.10:20384847:T:C p.(Asn69Ser) NC_000016.10:20384847:T:C Identity +NM_001368120.1:c.322G>C NP_001355049.1:p.Val108Leu NC_000008.11:22585022:G:C p.(Val108Leu) NC_000008.11:22585022:G:C p.(Val108Leu) NC_000008.11:22585022:G:C Identity +NM_001104925.2:c.197C>T NP_001098395.1:p.Pro66Leu NC_000020.11:64260161:C:T p.(Pro66Leu) NC_000020.11:64260161:C:T p.(Pro66Leu) NC_000020.11:64260161:C:T Identity +NM_001315529.2:c.3514C>T NP_001302458.1:p.Arg1172Cys NC_000021.9:46390696:C:T p.(Arg1172Cys) NC_000021.9:46390696:C:T p.(Arg1172Cys) NC_000021.9:46390696:C:T Identity +NM_012393.3:c.3530A>T NP_036525.1:p.Asp1177Val NC_000017.11:8268679:A:T p.(Asp1177Val) NC_000017.11:8268679:A:T p.(Asp1177Val) NC_000017.11:8268679:A:T Identity +NM_001322250.2:c.946G>A NP_001309179.1:p.Ala316Thr NC_000017.11:57676998:G:A p.(Ala316Thr) NC_000017.11:57676998:G:A p.(Ala316Thr) NC_000017.11:57676998:G:A Identity +NM_001145417.2:c.749A>T NP_001138889.1:p.His250Leu NC_000003.12:136151909:T:A p.(His250Leu) NC_000003.12:136151909:T:A p.(His250Leu) NC_000003.12:136151909:T:A Identity +NM_001322117.1:c.493C>T NP_001309046.1:p.Leu165Phe NC_000016.10:70129007:C:T p.(Leu165Phe) NC_000016.10:70129007:C:T p.(Leu165Phe) NC_000016.10:70129007:C:T Identity +NM_020381.4:c.319A>G NP_065114.3:p.Asn107Asp NC_000006.12:107334309:T:C p.(Asn107Asp) NC_000006.12:107334309:T:C p.(Asn107Asp) NC_000006.12:107334309:T:C Identity +NM_001285444.2:c.1612C>T NP_001272373.1:p.Pro538Ser NC_000016.10:15033279:C:T p.(Pro538Ser) NC_000016.10:15033279:C:T p.(Pro538Ser) NC_000016.10:15033279:C:T Identity +NM_178140.4:c.845A>C NP_835260.2:p.Glu282Ala NC_000005.10:31983522:A:C p.(Glu282Ala) NC_000005.10:31983522:A:C p.(Glu282Ala) NC_000005.10:31983522:A:C Identity +NM_173791.5:c.530C>T NP_776152.1:p.Pro177Leu NC_000010.11:117374697:G:A p.(Pro177Leu) NC_000010.11:117374697:G:A p.(Pro177Leu) NC_000010.11:117374697:G:A Identity +NM_024065.5:c.647T>C NP_076970.1:p.Ile216Thr NC_000002.12:100576422:T:C p.(Ile216Thr) NC_000002.12:100576422:T:C p.(Ile216Thr) NC_000002.12:100576422:T:C Identity +NM_001083.4:c.274A>G NP_001074.2:p.Ser92Gly NC_000004.12:119607175:T:C p.(Ser92Gly) NC_000004.12:119607175:T:C p.(Ser92Gly) NC_000004.12:119607175:T:C Identity +NM_021259.3:c.1703G>T NP_067082.2:p.Arg568Leu NC_000016.10:374272:C:A p.(Arg568Leu) NC_000016.10:374272:C:A p.(Arg568Leu) NC_000016.10:374272:C:A Identity +NM_021259.3:c.2152T>C NP_067082.2:p.Tyr718His NC_000016.10:372150:A:G p.(Tyr718His) NC_000016.10:372150:A:G p.(Tyr718His) NC_000016.10:372150:A:G Identity +NM_001308027.2:c.413G>T NP_001294956.1:p.Ser138Ile NC_000011.10:124799967:C:A p.(Ser138Ile) NC_000011.10:124799967:C:A p.(Ser138Ile) NC_000011.10:124799967:C:A Identity +NM_001018053.2:c.989G>A NP_001018063.1:p.Gly330Asp NC_000001.11:207069424:G:A p.(Gly330Asp) NC_000001.11:207069424:G:A p.(Gly330Asp) NC_000001.11:207069424:G:A Identity +NM_021259.3:c.1372A>G NP_067082.2:p.Ile458Val NC_000016.10:375199:T:C p.(Ile458Val) NC_000016.10:375199:T:C p.(Ile458Val) NC_000016.10:375199:T:C Identity +NM_005451.5:c.868C>T NP_005442.2:p.Arg290Trp NC_000005.10:177489393:G:A p.(Arg290Trp) NC_000005.10:177489393:G:A p.(Arg290Trp) NC_000005.10:177489393:G:A Identity +NM_178140.4:c.6868C>T NP_835260.2:p.Leu2290Phe NC_000005.10:32090315:C:T p.(Leu2290Phe) NC_000005.10:32090315:C:T p.(Leu2290Phe) NC_000005.10:32090315:C:T Identity +NM_001184743.2:c.1387G>A NP_001171672.1:p.Val463Ile NC_000006.12:28301240:G:A p.(Val463Ile) NC_000006.12:28301240:G:A p.(Val463Ile) NC_000006.12:28301240:G:A Identity +NM_001164595.2:c.65G>A NP_001158067.1:p.Gly22Asp NC_000012.12:41188519:G:A p.(Gly22Asp) NC_000012.12:41188519:G:A p.(Gly22Asp) NC_000012.12:41188519:G:A Identity +NM_001271572.2:c.420G>C NP_001258501.1:p.Glu140Asp NC_000015.10:89683607:C:G p.(Glu140Asp) NC_000015.10:89683607:C:G p.(Glu140Asp) NC_000015.10:89683607:C:G Identity +NM_000290.4:c.313G>A NP_000281.2:p.Ala105Thr NC_000007.14:44065216:C:T p.(Ala105Thr) NC_000007.14:44065216:C:T p.(Ala105Thr) NC_000007.14:44065216:C:T Identity +NM_021259.3:c.1634G>C NP_067082.2:p.Arg545Thr NC_000016.10:374341:C:G p.(Arg545Thr) NC_000016.10:374341:C:G p.(Arg545Thr) NC_000016.10:374341:C:G Identity +NM_052891.3:c.206G>C NP_443123.1:p.Gly69Ala NC_000001.11:153307116:C:G p.(Gly69Ala) NC_000001.11:153307116:C:G p.(Gly69Ala) NC_000001.11:153307116:C:G Identity +NM_020393.4:c.173G>A NP_065126.2:p.Arg58His NC_000001.11:153345348:C:T p.(Arg58His) NC_000001.11:153345348:C:T p.(Arg58His) NC_000001.11:153345348:C:T Identity +NM_000926.4:c.863C>G NP_000917.3:p.Pro288Arg NC_000011.10:101128207:G:C p.(Pro288Arg) NC_000011.10:101128207:G:C p.(Pro288Arg) NC_000011.10:101128207:G:C Identity +NM_018288.4:c.1084G>A NP_060758.2:p.Val362Ile NC_000006.12:169710264:C:T p.(Val362Ile) NC_000006.12:169710264:C:T p.(Val362Ile) NC_000006.12:169710264:C:T Identity +NM_001278221.3:c.169G>A NP_001265150.1:p.Val57Met NC_000003.12:52414569:G:A p.(Val57Met) NC_000003.12:52414569:G:A p.(Val57Met) NC_000003.12:52414569:G:A Identity +NM_001100164.2:c.463G>A NP_001093634.1:p.Glu155Lys NC_000006.12:143760408:G:A p.(Glu155Lys) NC_000006.12:143760408:G:A p.(Glu155Lys) NC_000006.12:143760408:G:A Identity +NM_001199505.1:c.952A>C NP_001186434.1:p.Lys318Gln NC_000020.11:59774276:A:C p.(Lys318Gln) NC_000020.11:59774276:A:C p.(Lys318Gln) NC_000020.11:59774276:A:C Identity +NM_001134437.2:c.1732C>T NP_001127909.1:p.Pro578Ser NC_000003.12:111913633:C:T p.(Pro578Ser) NC_000003.12:111913633:C:T p.(Pro578Ser) NC_000003.12:111913633:C:T Identity +NM_194449.4:c.1103G>C NP_919431.2:p.Ser368Thr NC_000018.10:62716785:G:C p.(Ser368Thr) NC_000018.10:62716785:G:C p.(Ser368Thr) NC_000018.10:62716785:G:C Identity +NM_001135861.3:c.229G>A NP_001129333.1:p.Gly77Arg NC_000009.12:136850080:G:A p.(Gly77Arg) NC_000009.12:136850080:G:A p.(Gly77Arg) NC_000009.12:136850080:G:A Identity +NM_001044264.3:c.332G>A NP_001037729.1:p.Arg111Gln NC_000009.12:35753187:C:T p.(Arg111Gln) NC_000009.12:35753187:C:T p.(Arg111Gln) NC_000009.12:35753187:C:T Identity +NM_001177996.3:c.716G>A NP_001171467.1:p.Arg239Gln NC_000012.12:111362750:C:T p.(Arg239Gln) NC_000012.12:111362750:C:T p.(Arg239Gln) NC_000012.12:111362750:C:T Identity +NM_001284518.2:c.341G>A NP_001271447.1:p.Arg114His NC_000017.11:7236573:C:T p.(Arg114His) NC_000017.11:7236573:C:T p.(Arg114His) NC_000017.11:7236573:C:T Identity +NM_001199159.2:c.1364C>T NP_001186088.1:p.Pro455Leu NC_000006.12:36963915:C:T p.(Pro455Leu) NC_000006.12:36963915:C:T p.(Pro455Leu) NC_000006.12:36963915:C:T Identity +NM_145886.4:c.467C>G NP_665893.2:p.Ser156Cys NC_000011.10:803415:G:C p.(Ser156Cys) NC_000011.10:803415:G:C p.(Ser156Cys) NC_000011.10:803415:G:C Identity +NM_001258459.2:c.272A>G NP_001245388.1:p.Lys91Arg NC_000007.14:56087014:T:C p.(Lys91Arg) NC_000007.14:56087014:T:C p.(Lys91Arg) NC_000007.14:56087014:T:C Identity +NM_001144758.3:c.3145C>T NP_001138230.1:p.Arg1049Trp NC_000011.10:118645378:C:T p.(Arg1049Trp) NC_000011.10:118645378:C:T p.(Arg1049Trp) NC_000011.10:118645378:C:T Identity +NM_001143804.2:c.719C>T NP_001137276.1:p.Ala240Val NC_000017.11:49224405:G:A p.(Ala240Val) NC_000017.11:49224405:G:A p.(Ala240Val) NC_000017.11:49224405:G:A Identity +NM_001286581.2:c.3122G>A NP_001273510.1:p.Arg1041His NC_000011.10:608577:G:A p.(Arg1041His) NC_000011.10:608577:G:A p.(Arg1041His) NC_000011.10:608577:G:A Identity +NM_020393.4:c.1063T>G NP_065126.2:p.Leu355Val NC_000001.11:153330825:A:C p.(Leu355Val) NC_000001.11:153330825:A:C p.(Leu355Val) NC_000001.11:153330825:A:C Identity +NM_052891.3:c.663G>C NP_443123.1:p.Gln221His NC_000001.11:153302473:C:G p.(Gln221His) NC_000001.11:153302473:C:G p.(Gln221His) NC_000001.11:153302473:C:G Identity +NM_001100164.2:c.722C>T NP_001093634.1:p.Thr241Ile NC_000006.12:143765287:C:T p.(Thr241Ile) NC_000006.12:143765287:C:T p.(Thr241Ile) NC_000006.12:143765287:C:T Identity +NM_001177355.3:c.869G>C NP_001170826.1:p.Arg290Pro NC_000016.10:765763:G:C p.(Arg290Pro) NC_000016.10:765763:G:C p.(Arg290Pro) NC_000016.10:765763:G:C Identity +NM_001048183.3:c.521C>T NP_001041648.1:p.Pro174Leu NC_000001.11:28466465:C:T p.(Pro174Leu) NC_000001.11:28466465:C:T p.(Pro174Leu) NC_000001.11:28466465:C:T Identity +NM_001378183.1:c.5896C>T NP_001365112.1:p.Arg1966Cys NC_000018.10:10705438:G:A p.(Arg1966Cys) NC_000018.10:10705438:G:A p.(Arg1966Cys) NC_000018.10:10705438:G:A Identity +NM_005259.3:c.721T>C NP_005250.1:p.Phe241Leu NC_000002.12:190060087:A:G p.(Phe241Leu) NC_000002.12:190060087:A:G p.(Phe241Leu) NC_000002.12:190060087:A:G Identity +NM_001202554.2:c.920T>A NP_001189483.1:p.Ile307Asn NC_000001.11:26794953:T:A p.(Ile307Asn) NC_000001.11:26794953:T:A p.(Ile307Asn) NC_000001.11:26794953:T:A Identity +NM_002647.4:c.191T>C NP_002638.2:p.Phe64Ser NC_000018.10:41957691:T:C p.(Phe64Ser) NC_000018.10:41957691:T:C p.(Phe64Ser) NC_000018.10:41957691:T:C Identity +NM_001308020.2:c.20T>C NP_001294949.1:p.Phe7Ser NC_000018.10:41955310:T:C p.(Phe7Ser) NC_000018.10:41955310:T:C p.(Phe7Ser) NC_000018.10:41955310:T:C Identity +NM_001282426.2:c.1161C>G NP_001269355.1:p.Ile387Met NC_000007.14:106868721:C:G p.(Ile387Met) NC_000007.14:106868721:C:G p.(Ile387Met) NC_000007.14:106868721:C:G Identity +NM_014602.3:c.1297G>A NP_055417.1:p.Val433Met NC_000003.12:130733700:C:T p.(Val433Met) NC_000003.12:130733700:C:T p.(Val433Met) NC_000003.12:130733700:C:T Identity +NM_001010855.4:c.1754G>A NP_001010855.1:p.Gly585Asp NC_000017.11:8822620:C:T p.(Gly585Asp) NC_000017.11:8822620:C:T p.(Gly585Asp) NC_000017.11:8822620:C:T Identity +NM_013439.3:c.576A>G NP_038467.2:p.Ile192Met NC_000007.14:100390008:A:G p.(Ile192Met) NC_000007.14:100390008:A:G p.(Ile192Met) NC_000007.14:100390008:A:G Identity +NM_001198773.3:c.1310A>G NP_001185702.1:p.Tyr437Cys NC_000001.11:151306190:T:C p.(Tyr437Cys) NC_000001.11:151306190:T:C p.(Tyr437Cys) NC_000001.11:151306190:T:C Identity +NM_001142864.4:c.1108C>G NP_001136336.2:p.His370Asp NC_000016.10:88737645:G:C p.(His370Asp) NC_000016.10:88737645:G:C p.(His370Asp) NC_000016.10:88737645:G:C Identity +NM_001142864.4:c.5281C>T NP_001136336.2:p.Arg1761Trp NC_000016.10:88721659:G:A p.(Arg1761Trp) NC_000016.10:88721659:G:A p.(Arg1761Trp) NC_000016.10:88721659:G:A Identity +NM_001330488.2:c.64G>A NP_001317417.1:p.Gly22Arg NC_000001.11:33375475:C:T p.(Gly22Arg) NC_000001.11:33375475:C:T p.(Gly22Arg) NC_000001.11:33375475:C:T Identity +NM_001330488.2:c.742G>A NP_001317417.1:p.Ala248Thr NC_000001.11:33367262:C:T p.(Ala248Thr) NC_000001.11:33367262:C:T p.(Ala248Thr) NC_000001.11:33367262:C:T Identity +NM_001177996.3:c.344A>G NP_001171467.1:p.Glu115Gly NC_000012.12:111363122:T:C p.(Glu115Gly) NC_000012.12:111363122:T:C p.(Glu115Gly) NC_000012.12:111363122:T:C Identity +NM_001127357.2:c.25A>G NP_001120829.1:p.Ile9Val NC_000007.14:77840279:A:G p.(Ile9Val) NC_000007.14:77840279:A:G p.(Ile9Val) NC_000007.14:77840279:A:G Identity +NM_001142864.4:c.4103G>T NP_001136336.2:p.Arg1368Leu NC_000016.10:88725474:C:A p.(Arg1368Leu) NC_000016.10:88725474:C:A p.(Arg1368Leu) NC_000016.10:88725474:C:A Identity +NM_001256532.1:c.395G>A NP_001243461.1:p.Arg132Lys NC_000001.11:155611576:G:A p.(Arg132Lys) NC_000001.11:155611576:G:A p.(Arg132Lys) NC_000001.11:155611576:G:A Identity +NM_001282426.2:c.1611C>G NP_001269355.1:p.Asp537Glu NC_000007.14:106869171:C:G p.(Asp537Glu) NC_000007.14:106869171:C:G p.(Asp537Glu) NC_000007.14:106869171:C:G Identity +NM_181523.3:c.296C>G NP_852664.1:p.Pro99Arg NC_000005.10:68226970:C:G p.(Pro99Arg) NC_000005.10:68226970:C:G p.(Pro99Arg) NC_000005.10:68226970:C:G Identity +NM_005027.4:c.1822A>G NP_005018.2:p.Met608Val NC_000019.10:18168738:A:G p.(Met608Val) NC_000019.10:18168738:A:G p.(Met608Val) NC_000019.10:18168738:A:G Identity +NM_014602.3:c.368T>C NP_055417.1:p.Ile123Thr NC_000003.12:130744850:A:G p.(Ile123Thr) NC_000003.12:130744850:A:G p.(Ile123Thr) NC_000003.12:130744850:A:G Identity +NM_015040.4:c.4150C>T NP_055855.2:p.Pro1384Ser NC_000002.12:208335312:C:T p.(Pro1384Ser) NC_000002.12:208335312:C:T p.(Pro1384Ser) NC_000002.12:208335312:C:T Identity +NM_001330292.2:c.265C>T NP_001317221.1:p.Arg89Trp NC_000011.10:62596734:G:A p.(Arg89Trp) NC_000011.10:62596734:G:A p.(Arg89Trp) NC_000011.10:62596734:G:A Identity +NM_006224.4:c.436C>G NP_006215.1:p.Arg146Gly NC_000017.11:1538888:G:C p.(Arg146Gly) NC_000017.11:1538888:G:C p.(Arg146Gly) NC_000017.11:1538888:G:C Identity +NM_001076780.3:c.574T>G NP_001070248.2:p.Cys192Gly NC_000016.10:81215083:A:C p.(Cys192Gly) NW_025791800.1:263344:A:C p.(Cys192Gly) NC_000016.10:263344:T:C Identity +NM_181536.2:c.3336G>C NP_853514.1:p.Gln1112His NC_000016.10:71950164:C:G p.(Gln1112His) NC_000016.10:71950164:C:G p.(Gln1112His) NC_000016.10:71950164:C:G Identity +NM_001253837.2:c.1130C>T NP_001240766.1:p.Thr377Met NC_000010.11:100296206:G:A p.(Thr377Met) NC_000010.11:100296206:G:A p.(Thr377Met) NC_000010.11:100296206:G:A Identity +NM_001320707.2:c.59G>A NP_001307636.1:p.Arg20Gln NC_000001.11:88740997:G:A p.(Arg20Gln) NC_000001.11:88740997:G:A p.(Arg20Gln) NC_000001.11:88740997:G:A Identity +NM_001206960.2:c.335C>T NP_001193889.1:p.Thr112Met NC_000003.12:119608828:C:T p.(Thr112Met) NC_000003.12:119608828:C:T p.(Thr112Met) NC_000003.12:119608828:C:T Identity +NM_012320.4:c.976G>A NP_036452.1:p.Val326Met NC_000016.10:68259393:G:A p.(Val326Met) NC_000016.10:68259393:G:A p.(Val326Met) NC_000016.10:68259393:G:A Identity +NM_014589.3:c.258C>G NP_055404.1:p.Phe86Leu NC_000001.11:19922325:G:C p.(Phe86Leu) NC_000001.11:19922325:G:C p.(Phe86Leu) NC_000001.11:19922325:G:C Identity +NM_001363136.1:c.1034A>T NP_001350065.1:p.Asp345Val NC_000008.11:97699804:A:T p.(Asp345Val) NC_000008.11:97699804:A:T p.(Asp345Val) NC_000008.11:97699804:A:T Identity +NM_001206670.1:c.2158G>A NP_001193599.1:p.Asp720Asn NC_000015.10:41985882:C:T p.(Asp720Asn) NC_000015.10:41985882:C:T p.(Asp720Asn) NC_000015.10:41985882:C:T Identity +NM_001004426.3:c.2004del NP_001004426.1:p.Phe668fs NC_000022.11:38113522:AAAAA:AAAA p.(Phe668LeufsTer39) NC_000022.11:38113522:AAAAA:AAAA p.(Phe668LeufsTer39) NC_000022.11:38113522:A: Analogous +NM_001145031.3:c.956T>C NP_001138503.2:p.Val319Ala NC_000010.11:73915286:T:C p.(Val319Ala) NC_000010.11:73915286:T:C p.(Val319Ala) NC_000010.11:73915286:T:C Identity +NM_133373.5:c.963G>T NP_588614.1:p.Leu321Phe NC_000017.11:45118442:C:A p.(Leu321Phe) NC_000017.11:45118442:C:A p.(Leu321Phe) NC_000017.11:45118442:C:A Identity +NM_032726.4:c.985C>T NP_116115.1:p.Arg329Trp NC_000002.12:218629528:C:T p.(Arg329Trp) NC_000002.12:218629528:C:T p.(Arg329Trp) NC_000002.12:218629528:C:T Identity +NM_002660.3:c.2623G>T NP_002651.2:p.Val875Phe NC_000020.11:41169498:G:T p.(Val875Phe) NC_000020.11:41169498:G:T p.(Val875Phe) NC_000020.11:41169498:G:T Identity +NM_001130960.2:c.1691A>G NP_001124432.1:p.Lys564Arg NC_000003.12:155500771:T:C p.(Lys564Arg) NC_000003.12:155500771:T:C p.(Lys564Arg) NC_000003.12:155500771:T:C Identity +NM_001099625.2:c.672G>A NP_001093095.1:p.Ser224= NC_000001.11:25829728:G:A p.(Ser224=) NC_000001.11:25829728:G:A p.(Ser224=) NC_000001.11:25829728:G:A Identity +NM_052909.5:c.1552G>A NP_443141.4:p.Asp518Asn NC_000005.10:143120:G:A p.(Asp518Asn) NC_000005.10:143120:G:A p.(Asp518Asn) NC_000005.10:143120:G:A Identity +NM_001367868.2:c.2335G>A NP_001354797.1:p.Gly779Arg NC_000019.10:4511624:C:T p.(Gly779Arg) NC_000019.10:4511624:C:T p.(Gly779Arg) NC_000019.10:4511624:C:T Identity +NM_005030.6:c.825C>A NP_005021.2:p.Asn275Lys NC_000016.10:23683877:C:A p.(Asn275Lys) NC_000016.10:23683877:C:A p.(Asn275Lys) NC_000016.10:23683877:C:A Identity +NM_001190799.2:c.198C>A NP_001177728.1:p.Asn66Lys NC_000004.12:127883509:C:A p.(Asn66Lys) NC_000004.12:127883509:C:A p.(Asn66Lys) NC_000004.12:127883509:C:A Identity +NM_003712.4:c.847T>G NP_003703.1:p.Tyr283Asp NC_000019.10:281407:A:C p.(Tyr283Asp) NC_000019.10:281407:A:C p.(Tyr283Asp) NC_000019.10:281407:A:C Identity +NM_001270366.2:c.394C>T NP_001257295.1:p.Arg132Trp NC_000019.10:815194:G:A p.(Arg132Trp) NC_000019.10:815194:G:A p.(Arg132Trp) NC_000019.10:815194:G:A Identity +NM_032242.4:c.3989G>A NP_115618.3:p.Arg1330Gln NC_000003.12:127020294:G:A p.(Arg1330Gln) NC_000003.12:127020294:G:A p.(Arg1330Gln) NC_000003.12:127020294:G:A Identity +NM_001376864.1:c.5414C>T NP_001363793.1:p.Thr1805Met NC_000022.11:50277609:G:A p.(Thr1805Met) NC_000022.11:50277609:G:A p.(Thr1805Met) NC_000022.11:50277609:G:A Identity +NM_001163257.2:c.4361C>T NP_001156729.1:p.Ala1454Val NC_000023.11:153775360:C:T p.(Ala1454Val) NC_000023.11:153775360:C:T p.(Ala1454Val) NC_000023.11:153775360:C:T Identity +NM_015103.3:c.2224G>T NP_055918.3:p.Ala742Ser NC_000003.12:129583583:C:A p.(Ala742Ser) NC_000003.12:129583583:C:A p.(Ala742Ser) NC_000003.12:129583583:C:A Identity +NM_001282944.2:c.418C>T NP_001269873.1:p.Leu140Phe NC_000009.12:136417127:C:T p.(Leu140Phe) NC_000009.12:136417127:C:T p.(Leu140Phe) NC_000009.12:136417127:C:T Identity +NM_007254.4:c.1387T>C NP_009185.2:p.Phe463Leu NC_000019.10:49861509:A:G p.(Phe463Leu) NC_000019.10:49861509:A:G p.(Phe463Leu) NC_000019.10:49861509:A:G Identity +NM_001103149.2:c.910A>G NP_001096619.1:p.Lys304Glu NC_000019.10:46470125:T:C p.(Lys304Glu) NC_000019.10:46470125:T:C p.(Lys304Glu) NC_000019.10:46470125:T:C Identity +NM_001040446.3:c.539G>A NP_001035536.1:p.Arg180Gln NC_000005.10:32268744:C:T p.(Arg180Gln) NC_000005.10:32268744:C:T p.(Arg180Gln) NC_000005.10:32268744:C:T Identity +NM_020376.4:c.1244A>G NP_065109.1:p.Tyr415Cys NC_000011.10:824590:A:G p.(Tyr415Cys) NC_000011.10:824590:A:G p.(Tyr415Cys) NC_000011.10:824590:A:G Identity +NM_001308116.2:c.2641C>T NP_001295045.1:p.Arg881Cys NC_000003.12:170102634:G:A p.(Arg881Cys) NC_000003.12:170102634:G:A p.(Arg881Cys) NC_000003.12:170102634:G:A Identity +NM_016436.5:c.1461G>C NP_057520.2:p.Glu487Asp NC_000020.11:35899547:G:C p.(Glu487Asp) NC_000020.11:35899547:G:C p.(Glu487Asp) NC_000020.11:35899547:G:C Identity +NM_001135670.3:c.460G>A NP_001129142.1:p.Asp154Asn NC_000008.11:10428183:G:A p.(Asp154Asn) NC_000008.11:10428183:G:A p.(Asp154Asn) NC_000008.11:10428183:G:A Identity +NM_001098537.3:c.3233T>G NP_001092007.2:p.Leu1078Arg NC_000009.12:137463524:A:C p.(Leu1078Arg) NC_000009.12:137463524:A:C p.(Leu1078Arg) NC_000009.12:137463524:A:C Identity +NM_001146254.2:c.571G>A NP_001139726.1:p.Gly191Ser NC_000019.10:13934348:C:T p.(Gly191Ser) NC_000019.10:13934348:C:T p.(Gly191Ser) NC_000019.10:13934348:C:T Identity +NM_015720.4:c.1507G>A NP_056535.1:p.Val503Met NC_000003.12:127671514:G:A p.(Val503Met) NC_000003.12:127671514:G:A p.(Val503Met) NC_000003.12:127671514:G:A Identity +NM_001318732.2:c.737A>G NP_001305661.1:p.Asn246Ser NC_000013.11:102786328:T:C p.(Asn246Ser) NC_000013.11:102786328:T:C p.(Asn246Ser) NC_000013.11:102786328:T:C Identity +NM_001318732.2:c.295G>A NP_001305661.1:p.Glu99Lys NC_000013.11:102791031:C:T p.(Glu99Lys) NC_000013.11:102791031:C:T p.(Glu99Lys) NC_000013.11:102791031:C:T Identity +NM_001144758.3:c.621G>C NP_001138230.1:p.Glu207Asp NC_000011.10:118627443:G:C p.(Glu207Asp) NC_000011.10:118627443:G:C p.(Glu207Asp) NC_000011.10:118627443:G:C Identity +NM_001323041.2:c.765T>A NP_001309970.1:p.Asp255Glu NC_000001.11:113713296:A:T p.(Asp255Glu) NC_000001.11:113713296:A:T p.(Asp255Glu) NC_000001.11:113713296:A:T Identity +NM_001393581.1:c.1440T>C NP_001380510.1:p.Ser480= NC_000003.12:49685361:A:G p.(Ser480=) NC_000003.12:49685361:A:G p.(Ser480=) NC_000003.12:49685361:A:G Identity +NM_001324403.2:c.544A>G NP_001311332.1:p.Asn182Asp NC_000008.11:74845399:A:G p.(Asn182Asp) NC_000008.11:74845399:A:G p.(Asn182Asp) NC_000008.11:74845399:A:G Identity +NM_015897.4:c.1258G>T NP_056981.2:p.Ala420Ser NC_000019.10:4037488:G:T p.(Ala420Ser) NC_000019.10:4037488:G:T p.(Ala420Ser) NC_000019.10:4037488:G:T Identity +NM_001321378.2:c.935G>C NP_001308307.1:p.Arg312Thr NC_000011.10:17168806:C:G p.(Arg312Thr) NC_000011.10:17168806:C:G p.(Arg312Thr) NC_000011.10:17168806:C:G Identity +NM_001002926.2:c.547C>T NP_001002926.1:p.Arg183Cys NC_000007.14:19700129:G:A p.(Arg183Cys) NC_000007.14:19700129:G:A p.(Arg183Cys) NC_000007.14:19700129:G:A Identity +NM_001282426.2:c.160C>G NP_001269355.1:p.Pro54Ala NC_000007.14:106867720:C:G p.(Pro54Ala) NC_000007.14:106867720:C:G p.(Pro54Ala) NC_000007.14:106867720:C:G Identity +NM_001282426.2:c.676C>G NP_001269355.1:p.Arg226Gly NC_000007.14:106868236:C:G p.(Arg226Gly) NC_000007.14:106868236:C:G p.(Arg226Gly) NC_000007.14:106868236:C:G Identity +NM_014602.3:c.2537G>C NP_055417.1:p.Arg846Thr NC_000003.12:130707131:C:G p.(Arg846Thr) NC_000003.12:130707131:C:G p.(Arg846Thr) NC_000003.12:130707131:C:G Identity +NM_018710.3:c.370A>G NP_061180.1:p.Ile124Val NC_000008.11:91018505:T:C p.(Ile124Val) NC_000008.11:91018505:T:C p.(Ile124Val) NC_000008.11:91018505:T:C Identity +NM_001242307.2:c.277C>T NP_001229236.1:p.Arg93Cys NC_000010.11:3166369:G:A p.(Arg93Cys) NC_000010.11:3166369:G:A p.(Arg93Cys) NC_000010.11:3166369:G:A Identity +NM_001396040.1:c.755G>A NP_001382969.1:p.Arg252Gln NC_000009.12:21859315:G:A p.(Arg252Gln) NC_000009.12:21859315:G:A p.(Arg252Gln) NC_000009.12:21859315:G:A Identity +NM_000296.4:c.5307T>G NP_000287.4:p.His1769Gln NC_000016.10:2109859:A:C p.(His1769Gln) NC_000016.10:2109859:A:C p.(His1769Gln) NC_000016.10:2109859:A:C Identity +NM_022045.5:c.2207G>A NP_071328.2:p.Arg736Gln NC_000008.11:120516151:G:A p.(Arg736Gln) NC_000008.11:120516151:G:A p.(Arg736Gln) NC_000008.11:120516151:G:A Identity +NM_000296.4:c.7517C>T NP_000287.4:p.Ala2506Val NC_000016.10:2106276:G:A p.(Ala2506Val) NC_000016.10:2106276:G:A p.(Ala2506Val) NC_000016.10:2106276:G:A Identity +NM_000296.4:c.9931C>T NP_000287.4:p.His3311Tyr NC_000016.10:2099762:G:A p.(His3311Tyr) NC_000016.10:2099762:G:A p.(His3311Tyr) NC_000016.10:2099762:G:A Identity +NM_001076780.3:c.2036T>C NP_001070248.2:p.Leu679Pro NC_000016.10:81181223:A:G p.(Leu679Pro) NW_025791800.1:229484:A:G p.(Leu679Pro) NC_000016.10:229484:C:G Identity +NM_001407805.1:c.3652G>A NP_001394734.1:p.Val1218Met NC_000019.10:617430:C:T p.(Val1218Met) NC_000019.10:617430:C:T p.(Val1218Met) NC_000019.10:617430:C:T Identity +NM_001076780.3:c.2623G>C NP_001070248.2:p.Val875Leu NC_000016.10:81174865:C:G p.(Val875Leu) NW_025791800.1:223126:C:G p.(Val875Leu) NC_000016.10:223126:A:G Identity +NM_001076780.3:c.457G>A NP_001070248.2:p.Glu153Lys NC_000016.10:81216250:C:T p.(Glu153Lys) NW_025791800.1:264511:C:T p.(Glu153Lys) NC_000016.10:264511:C:T Identity +NM_181536.2:c.1100C>G NP_853514.1:p.Ala367Gly NC_000016.10:71982101:G:C p.(Ala367Gly) NC_000016.10:71982101:G:C p.(Ala367Gly) NC_000016.10:71982101:G:C Identity +NM_181536.2:c.2150G>C NP_853514.1:p.Trp717Ser NC_000016.10:71969908:C:G p.(Trp717Ser) NC_000016.10:71969908:C:G p.(Trp717Ser) NC_000016.10:71969908:C:G Identity +NM_138370.3:c.763A>T NP_612379.2:p.Ile255Phe NC_000002.12:42054035:A:T p.(Ile255Phe) NC_000002.12:42054035:A:T p.(Ile255Phe) NC_000002.12:42054035:A:T Identity +NM_006071.2:c.1210G>A NP_006062.1:p.Ala404Thr NC_000022.11:46262112:C:T p.(Ala404Thr) NC_000022.11:46262112:C:T p.(Ala404Thr) NC_000022.11:46262112:C:T Identity +NM_138694.4:c.7891T>C NP_619639.3:p.Trp2631Arg NC_000006.12:51855912:A:G p.(Trp2631Arg) NC_000006.12:51855912:A:G p.(Trp2631Arg) NC_000006.12:51855912:A:G Identity +NM_001258451.2:c.70C>T NP_001245380.1:p.Arg24Cys NC_000016.10:2976944:G:A p.(Arg24Cys) NC_000016.10:2976944:G:A p.(Arg24Cys) NC_000016.10:2976944:G:A Identity +NM_002741.5:c.2372C>T NP_002732.3:p.Ser791Leu NC_000019.10:14470240:C:T p.(Ser791Leu) NC_000019.10:14470240:C:T p.(Ser791Leu) NC_000019.10:14470240:C:T Identity +NM_001317926.2:c.1653G>T NP_001304855.1:p.Arg551Ser NC_000009.12:128715171:G:T p.(Arg551Ser) NC_000009.12:128715171:G:T p.(Arg551Ser) NC_000009.12:128715171:G:T Identity +NM_001288989.2:c.649G>T NP_001275918.1:p.Val217Leu NC_000010.11:94031694:G:T p.(Val217Leu) NC_000010.11:94031694:G:T p.(Val217Leu) NC_000010.11:94031694:G:T Identity +NM_001130848.2:c.2246C>A NP_001124320.1:p.Ala749Asp NC_000011.10:67496245:G:T p.(Ala749Asp) NC_000011.10:67496245:G:T p.(Ala749Asp) NC_000011.10:67496245:G:T Identity +NM_000296.4:c.2051G>T NP_000287.4:p.Arg684Ile NC_000016.10:2115423:C:A p.(Arg684Ile) NC_000016.10:2115423:C:A p.(Arg684Ile) NC_000016.10:2115423:C:A Identity +NM_001258448.2:c.986G>T NP_001245377.1:p.Ser329Ile NC_000005.10:137907817:G:T p.(Ser329Ile) NC_000005.10:137907817:G:T p.(Ser329Ile) NC_000005.10:137907817:G:T Identity +NM_001207025.4:c.1325C>T NP_001193954.1:p.Thr442Ile NC_000019.10:42092143:G:A p.(Thr442Ile) NC_000019.10:42092143:G:A p.(Thr442Ile) NC_000019.10:42092143:G:A Identity +NM_002700.3:c.400G>A NP_002691.1:p.Ala134Thr NC_000005.10:146339826:G:A p.(Ala134Thr) NC_000005.10:146339826:G:A p.(Ala134Thr) NC_000005.10:146339826:G:A Identity +NM_001330751.2:c.1360A>G NP_001317680.1:p.Thr454Ala NC_000004.12:23814137:T:C p.(Thr454Ala) NC_000004.12:23814137:T:C p.(Thr454Ala) NC_000004.12:23814137:T:C Identity +NM_001172698.2:c.2767G>A NP_001166169.1:p.Ala923Thr NC_000005.10:149845826:G:A p.(Ala923Thr) NC_000005.10:149845826:G:A p.(Ala923Thr) NC_000005.10:149845826:G:A Identity +NM_001282536.1:c.1753C>T NP_001269465.1:p.Arg585Trp NC_000012.12:81347552:G:A p.(Arg585Trp) NC_000012.12:81347552:G:A p.(Arg585Trp) NC_000012.12:81347552:G:A Identity +NM_001386500.1:c.5585C>A NP_001373429.1:p.Pro1862Gln NC_000001.11:11130556:G:T p.(Pro1862Gln) NC_000001.11:11130556:G:T p.(Pro1862Gln) NC_000001.11:11130556:G:T Identity +NM_002707.3:c.985A>G NP_002698.1:p.Thr329Ala NC_000002.12:27383581:T:C ERR:Data provider error: ValueError: Transcript NM_002707.3 not found ERR:Data provider error: ValueError: Transcript NM_002707.3 not found ERR:AlignmentMapper(tx_ac=NM_002707.3, alt_ac=NM_002707.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_002707.3, alt_ac=NM_002707.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_002707.3 not found +NM_001317911.2:c.430C>T NP_001304840.1:p.Pro144Ser NC_000003.12:161068884:C:T p.(Pro144Ser) NC_000003.12:161068884:C:T p.(Pro144Ser) NC_000003.12:161068884:C:T Identity +NM_001271618.2:c.2215G>T NP_001258547.1:p.Ala739Ser NC_000019.10:55091690:C:A p.(Ala739Ser) NC_000019.10:55091690:C:A p.(Ala739Ser) NC_000019.10:55091690:C:A Identity +NM_014931.4:c.2585C>T NP_055746.3:p.Thr862Met NC_000019.10:55230669:G:A p.(Thr862Met) NC_000019.10:55230669:G:A p.(Thr862Met) NC_000019.10:55230669:G:A Identity +NM_001080826.3:c.1847C>T NP_001074295.2:p.Ala616Val NC_000008.11:8376561:G:A p.(Ala616Val) NC_000008.11:8376561:G:A p.(Ala616Val) NC_000008.11:8376561:G:A Identity +NM_001080826.3:c.3011G>T NP_001074295.2:p.Gly1004Val NC_000008.11:8327770:C:A p.(Gly1004Val) NC_000008.11:8327770:C:A p.(Gly1004Val) NC_000008.11:8327770:C:A Identity +NM_001080826.3:c.3506C>A NP_001074295.2:p.Ala1169Asp NC_000008.11:8318868:G:T p.(Ala1169Asp) NC_000008.11:8318868:G:T p.(Ala1169Asp) NC_000008.11:8318868:G:T Identity +NM_032152.5:c.1328C>T NP_115528.4:p.Pro443Leu NC_000019.10:8498479:G:A p.(Pro443Leu) NC_000019.10:8498479:G:A p.(Pro443Leu) NC_000019.10:8498479:G:A Identity +NM_032152.5:c.868C>T NP_115528.4:p.Leu290Phe NC_000019.10:8498939:G:A p.(Leu290Phe) NC_000019.10:8498939:G:A p.(Leu290Phe) NC_000019.10:8498939:G:A Identity +NM_001330485.2:c.171G>C NP_001317414.1:p.Leu57Phe NC_000002.12:27133685:C:G p.(Leu57Phe) NC_000002.12:27133685:C:G p.(Leu57Phe) NC_000002.12:27133685:C:G Identity +NM_177531.6:c.5183T>C NP_803875.2:p.Ile1728Thr NC_000008.11:109445051:T:C p.(Ile1728Thr) NC_000008.11:109445051:T:C p.(Ile1728Thr) NC_000008.11:109445051:T:C Identity +NM_001303029.2:c.586C>A NP_001289958.1:p.Leu196Met NC_000011.10:397041:C:A p.(Leu196Met) NC_000011.10:397041:C:A p.(Leu196Met) NC_000011.10:397041:C:A Identity +NM_001161546.2:c.373G>A NP_001155018.1:p.Gly125Ser NC_000005.10:139394708:C:T p.(Gly125Ser) NC_000005.10:139394708:C:T p.(Gly125Ser) NC_000005.10:139394708:C:T Identity +NM_001244926.2:c.1471G>A NP_001231855.1:p.Glu491Lys NC_000009.12:113291564:G:A p.(Glu491Lys) NC_000009.12:113291564:G:A p.(Glu491Lys) NC_000009.12:113291564:G:A Identity +NM_001354431.4:c.710C>G NP_001341360.1:p.Ala237Gly NC_000002.12:152676671:G:C p.(Ala237Gly) NC_000002.12:152676671:G:C p.(Ala237Gly) NC_000002.12:152676671:G:C Identity +NM_001040105.2:c.1233C>G NP_001035194.1:p.Ser411Arg NC_000007.14:101032648:C:G p.(Ser411Arg) NC_000007.14:101032648:C:G p.(Ser411Arg) NC_000007.14:101032648:C:G Identity +NM_020719.3:c.2876C>T NP_065770.1:p.Ala959Val NC_000019.10:49597210:C:T p.(Ala959Val) NC_000019.10:49597210:C:T p.(Ala959Val) NC_000019.10:49597210:C:T Identity +NM_001134659.1:c.175T>A NP_001128131.1:p.Ser59Thr NC_000003.12:139006093:A:T p.(Ser59Thr) NC_000003.12:139006093:A:T p.(Ser59Thr) NC_000003.12:139006093:A:T Identity +NM_001040105.2:c.3920G>T NP_001035194.1:p.Gly1307Val NC_000007.14:101035335:G:T p.(Gly1307Val) NC_000007.14:101035335:G:T p.(Gly1307Val) NC_000007.14:101035335:G:T Identity +NM_000951.3:c.502C>A NP_000942.1:p.Pro168Thr NC_000019.10:49589963:C:A p.(Pro168Thr) NC_000019.10:49589963:C:A p.(Pro168Thr) NC_000019.10:49589963:C:A Identity +NM_001174164.2:c.1771C>A NP_001167635.1:p.Leu591Met NC_000007.14:128351784:G:T p.(Leu591Met) NC_000007.14:128351784:G:T p.(Leu591Met) NC_000007.14:128351784:G:T Identity +NM_001293179.2:c.680C>T NP_001280108.1:p.Thr227Ile NC_000011.10:86808322:C:T p.(Thr227Ile) NC_000011.10:86808322:C:T p.(Thr227Ile) NC_000011.10:86808322:C:T Identity +NM_001170423.2:c.758G>A NP_001163894.1:p.Arg253Gln NC_000006.12:83524198:G:A p.(Arg253Gln) NC_000006.12:83524198:G:A p.(Arg253Gln) NC_000006.12:83524198:G:A Identity +NM_001080492.2:c.250G>A NP_001073961.1:p.Ala84Thr NC_000016.10:58290971:C:T p.(Ala84Thr) NC_000016.10:58290971:C:T p.(Ala84Thr) NC_000016.10:58290971:C:T Identity +NM_002777.4:c.759G>C NP_002768.3:p.Lys253Asn NC_000019.10:847956:G:C p.(Lys253Asn) NC_000019.10:847956:G:C p.(Lys253Asn) NC_000019.10:847956:G:C Identity +NM_001308047.2:c.6784G>A NP_001294976.1:p.Gly2262Ser NC_000009.12:76705489:C:T p.(Gly2262Ser) NC_000009.12:76705489:C:T p.(Gly2262Ser) NC_000009.12:76705489:C:T Identity +NM_001184825.2:c.4G>A NP_001171754.1:p.Gly2Arg NC_000019.10:42879577:C:T p.(Gly2Arg) NC_000019.10:42879577:C:T p.(Gly2Arg) NC_000019.10:42879577:C:T Identity +NM_001363136.1:c.752C>T NP_001350065.1:p.Ser251Leu NC_000008.11:97690957:C:T p.(Ser251Leu) NC_000008.11:97690957:C:T p.(Ser251Leu) NC_000008.11:97690957:C:T Identity +NM_001128203.2:c.410C>T NP_001121675.1:p.Ala137Val NC_000011.10:63575023:G:A p.(Ala137Val) NC_000011.10:63575023:G:A p.(Ala137Val) NC_000011.10:63575023:G:A Identity +NM_001005376.3:c.721A>G NP_001005376.1:p.Met241Val NC_000019.10:43652257:T:C p.(Met241Val) NC_000019.10:43652257:T:C p.(Met241Val) NC_000019.10:43652257:T:C Identity +NM_024829.6:c.74T>C NP_079105.4:p.Leu25Pro NC_000012.12:14567622:A:G p.(Leu25Pro) NC_000012.12:14567622:A:G p.(Leu25Pro) NC_000012.12:14567622:A:G Identity +NM_024829.6:c.794T>C NP_079105.4:p.Val265Ala NC_000012.12:14535708:A:G p.(Val265Ala) NC_000012.12:14535708:A:G p.(Val265Ala) NC_000012.12:14535708:A:G Identity +NM_001165979.2:c.2158G>C NP_001159451.1:p.Val720Leu NC_000010.11:94246606:G:C p.(Val720Leu) NC_000010.11:94246606:G:C p.(Val720Leu) NC_000010.11:94246606:G:C Identity +NM_001031850.4:c.50G>C NP_001027020.1:p.Gly17Ala NC_000019.10:42917742:C:G p.(Gly17Ala) NC_000019.10:42917742:C:G p.(Gly17Ala) NC_000019.10:42917742:C:G Identity +NM_001198815.1:c.4319C>T NP_001185744.1:p.Thr1440Ile NC_000006.12:31029749:C:T p.(Thr1440Ile) NC_000006.12:31029749:C:T p.(Thr1440Ile) NC_000006.12:31029749:C:T Identity +NM_001145938.2:c.934G>A NP_001139410.1:p.Asp312Asn NC_000011.10:102791396:C:T p.(Asp312Asn) NC_000011.10:102791396:C:T p.(Asp312Asn) NC_000011.10:102791396:C:T Identity +NM_002458.3:c.10424C>G NP_002449.2:p.Thr3475Ser NC_000011.10:1247303:C:G p.(Thr3475Ser) NC_000011.10:1247303:C:G p.(Thr3475Ser) NC_000011.10:1247303:C:G Identity +NM_004778.3:c.789C>A NP_004769.2:p.His263Gln NC_000011.10:60852933:G:T p.(His263Gln) NC_000011.10:60852933:G:T p.(His263Gln) NC_000011.10:60852933:G:T Identity +NM_000956.4:c.439C>T NP_000947.2:p.Arg147Cys NC_000014.9:52314986:C:T p.(Arg147Cys) NC_000014.9:52314986:C:T p.(Arg147Cys) NC_000014.9:52314986:C:T Identity +NM_000958.3:c.1071G>T NP_000949.1:p.Glu357Asp NC_000005.10:40691981:G:T p.(Glu357Asp) NC_000005.10:40691981:G:T p.(Glu357Asp) NC_000005.10:40691981:G:T Identity +NM_000959.4:c.397C>T NP_000950.1:p.Arg133Trp NC_000001.11:78493139:C:T p.(Arg133Trp) NC_000001.11:78493139:C:T p.(Arg133Trp) NC_000001.11:78493139:C:T Identity +NM_020440.4:c.1325G>A NP_065173.2:p.Arg442Gln NC_000001.11:116961353:G:A p.(Arg442Gln) NC_000001.11:116961353:G:A p.(Arg442Gln) NC_000001.11:116961353:G:A Identity +NM_001024847.3:c.464G>A NP_001020018.1:p.Gly155Asp NC_000003.12:30650394:G:A p.(Gly155Asp) NC_000003.12:30650394:G:A p.(Gly155Asp) NC_000003.12:30650394:G:A Identity +NM_001319043.2:c.1154A>C NP_001305972.1:p.Gln385Pro NC_000003.12:150572374:A:C p.(Gln385Pro) NC_000003.12:150572374:A:C p.(Gln385Pro) NC_000003.12:150572374:A:C Identity +NM_001184.4:c.1603A>T NP_001175.2:p.Met535Leu NC_000003.12:142559379:T:A p.(Met535Leu) NC_000003.12:142559379:T:A p.(Met535Leu) NC_000003.12:142559379:T:A Identity +NM_001211.6:c.2125C>T NP_001202.5:p.Leu709Phe NC_000015.10:40208751:C:T p.(Leu709Phe) NC_000015.10:40208751:C:T p.(Leu709Phe) NC_000015.10:40208751:C:T Identity +NM_001211.6:c.2696A>G NP_001202.5:p.Asp899Gly NC_000015.10:40217512:A:G p.(Asp899Gly) NC_000015.10:40217512:A:G p.(Asp899Gly) NC_000015.10:40217512:A:G Identity +NM_001430.5:c.149A>T NP_001421.2:p.His50Leu NC_000002.12:46346994:A:T p.(His50Leu) NC_000002.12:46346994:A:T p.(His50Leu) NC_000002.12:46346994:A:T Identity +NM_001303012.2:c.1408G>C NP_001289941.1:p.Asp470His NC_000001.11:2489840:G:C p.(Asp470His) NC_000001.11:2489840:G:C p.(Asp470His) NC_000001.11:2489840:G:C Identity +NM_001308174.2:c.708T>G NP_001295103.1:p.Ser236Arg NC_000014.9:104930074:T:G p.(Ser236Arg) NC_000014.9:104930074:T:G p.(Ser236Arg) NC_000014.9:104930074:T:G Identity +NM_001161354.2:c.20G>A NP_001154826.1:p.Arg7His NC_000019.10:48867600:C:T p.(Arg7His) NC_000019.10:48867600:C:T p.(Arg7His) NC_000019.10:48867600:C:T Identity +NM_001329630.2:c.93G>C NP_001316559.1:p.Gln31His NC_000011.10:17014194:C:G p.(Gln31His) NC_000011.10:17014194:C:G p.(Gln31His) NC_000011.10:17014194:C:G Identity +NM_001161498.2:c.554A>G NP_001154970.1:p.Glu185Gly NC_000014.9:69502877:A:G p.(Glu185Gly) NC_000014.9:69502877:A:G p.(Glu185Gly) NC_000014.9:69502877:A:G Identity +NM_002432.3:c.878T>C NP_002423.1:p.Phe293Ser NC_000001.11:158845893:T:C p.(Phe293Ser) NC_000001.11:158845893:T:C p.(Phe293Ser) NC_000001.11:158845893:T:C Identity +NM_002439.5:c.658T>G NP_002430.3:p.Ser220Ala NC_000005.10:80670174:T:G p.(Ser220Ala) NC_000005.10:80670174:T:G p.(Ser220Ala) NC_000005.10:80670174:T:G Identity +NM_001144856.2:c.1665G>C NP_001138328.1:p.Glu555Asp NC_000012.12:6326567:G:C p.(Glu555Asp) NC_000012.12:6326567:G:C p.(Glu555Asp) NC_000012.12:6326567:G:C Identity +NM_020715.3:c.599T>C NP_065766.1:p.Met200Thr NC_000014.9:67562229:T:C p.(Met200Thr) NC_000014.9:67562229:T:C p.(Met200Thr) NC_000014.9:67562229:T:C Identity +NM_172069.4:c.2405A>G NP_742066.2:p.Asn802Ser NC_000002.12:43712327:A:G p.(Asn802Ser) NC_000002.12:43712327:A:G p.(Asn802Ser) NC_000002.12:43712327:A:G Identity +NM_001080475.3:c.161T>C NP_001073944.1:p.Ile54Thr NC_000002.12:208001478:A:G p.(Ile54Thr) NC_000002.12:208001478:A:G p.(Ile54Thr) NC_000002.12:208001478:A:G Identity +NM_001242767.2:c.2608A>T NP_001229696.1:p.Ile870Leu NC_000006.12:151034510:A:T p.(Ile870Leu) NC_000006.12:151034510:A:T p.(Ile870Leu) NC_000006.12:151034510:A:T Identity +NM_000301.5:c.1517C>T NP_000292.1:p.Ala506Val NC_000006.12:160731822:C:T p.(Ala506Val) NC_000006.12:160731822:C:T p.(Ala506Val) NC_000006.12:160731822:C:T Identity +NM_001159377.2:c.1039C>T NP_001152849.1:p.Leu347Phe NC_000016.10:86532123:G:A p.(Leu347Phe) NC_000016.10:86532123:G:A p.(Leu347Phe) NC_000016.10:86532123:G:A Identity +NM_017514.5:c.5024C>T NP_059984.3:p.Thr1675Ile NC_000023.11:154470478:C:T p.(Thr1675Ile) NC_000023.11:154470478:C:T p.(Thr1675Ile) NC_000023.11:154470478:C:T Identity +NM_001163257.2:c.2654G>T NP_001156729.1:p.Arg885Leu NC_000023.11:153771930:G:T p.(Arg885Leu) NC_000023.11:153771930:G:T p.(Arg885Leu) NC_000023.11:153771930:G:T Identity +NM_001010853.3:c.76C>T NP_001010853.1:p.Arg26Cys NC_000006.12:89146219:C:T p.(Arg26Cys) NC_000006.12:89146219:C:T p.(Arg26Cys) NC_000006.12:89146219:C:T Identity +NM_004279.3:c.1385G>T NP_004270.2:p.Ser462Ile NC_000007.14:103312110:G:T p.(Ser462Ile) NC_000007.14:103312110:G:T p.(Ser462Ile) NC_000007.14:103312110:G:T Identity +NM_018215.4:c.1234G>A NP_060685.2:p.Glu412Lys NC_000019.10:46469801:C:T p.(Glu412Lys) NC_000019.10:46469801:C:T p.(Glu412Lys) NC_000019.10:46469801:C:T Identity +NM_001363502.2:c.68C>G NP_001350431.1:p.Pro23Arg NC_000011.10:108498298:G:C p.(Pro23Arg) NC_000011.10:108498298:G:C p.(Pro23Arg) NC_000011.10:108498298:G:C Identity +NM_001351610.1:c.185T>C NP_001338539.1:p.Met62Thr NC_000018.10:54273994:T:C p.(Met62Thr) NC_000018.10:54273994:T:C p.(Met62Thr) NC_000018.10:54273994:T:C Identity +NM_001174084.2:c.200A>G NP_001167555.1:p.Gln67Arg NC_000010.11:101586071:T:C p.(Gln67Arg) NC_000010.11:101586071:T:C p.(Gln67Arg) NC_000010.11:101586071:T:C Identity +NM_001297590.3:c.1088G>C NP_001284519.1:p.Gly363Ala NC_000019.10:45409049:G:C p.(Gly363Ala) NC_000019.10:45409049:G:C p.(Gly363Ala) NC_000019.10:45409049:G:C Identity +NM_001160708.2:c.248G>A NP_001154180.1:p.Arg83His NC_000012.12:106376375:G:A p.(Arg83His) NC_000012.12:106376375:G:A p.(Arg83His) NC_000012.12:106376375:G:A Identity +NM_001722.3:c.62C>T NP_001713.2:p.Thr21Ile NC_000008.11:22245510:C:T p.(Thr21Ile) NC_000008.11:22245510:C:T p.(Thr21Ile) NC_000008.11:22245510:C:T Identity +NM_001407805.1:c.2209G>A NP_001394734.1:p.Glu737Lys NC_000019.10:621488:C:T p.(Glu737Lys) NC_000019.10:621488:C:T p.(Glu737Lys) NC_000019.10:621488:C:T Identity +NM_001407805.1:c.980G>A NP_001394734.1:p.Gly327Glu NC_000019.10:624878:C:T p.(Gly327Glu) NC_000019.10:624878:C:T p.(Gly327Glu) NC_000019.10:624878:C:T Identity +NM_000446.7:c.230T>C NP_000437.3:p.Phe77Ser NC_000007.14:95315461:A:G p.(Phe77Ser) NC_000007.14:95315461:A:G p.(Phe77Ser) NC_000007.14:95315461:A:G Identity +NM_001145860.2:c.2932T>C NP_001139332.1:p.Cys978Arg NC_000008.11:98158127:T:C p.(Cys978Arg) NC_000008.11:98158127:T:C p.(Cys978Arg) NC_000008.11:98158127:T:C Identity +NM_001142864.4:c.5600G>C NP_001136336.2:p.Arg1867Thr NC_000016.10:88721233:C:G p.(Arg1867Thr) NC_000016.10:88721233:C:G p.(Arg1867Thr) NC_000016.10:88721233:C:G Identity +NM_002643.4:c.656A>G NP_002634.1:p.Asn219Ser NC_000002.12:46581481:T:C p.(Asn219Ser) NC_000002.12:46581481:T:C p.(Asn219Ser) NC_000002.12:46581481:T:C Identity +NM_001184728.3:c.1081C>G NP_001171657.1:p.Gln361Glu NC_000020.11:45424229:C:G p.(Gln361Glu) NC_000020.11:45424229:C:G p.(Gln361Glu) NC_000020.11:45424229:C:G Identity +NM_025163.4:c.1463G>A NP_079439.2:p.Gly488Glu NC_000003.12:196947433:C:T p.(Gly488Glu) NC_000003.12:196947433:C:T p.(Gly488Glu) NC_000003.12:196947433:C:T Identity +NM_001346139.1:c.1070G>T NP_001333068.1:p.Gly357Val NC_000019.10:10110737:G:T p.(Gly357Val) NC_000019.10:10110737:G:T p.(Gly357Val) NC_000019.10:10110737:G:T Identity +NM_001378006.1:c.3497C>T NP_001364935.1:p.Thr1166Met NC_000011.10:70375079:C:T p.(Thr1166Met) NC_000011.10:70375079:C:T p.(Thr1166Met) NC_000011.10:70375079:C:T Identity +NM_001304331.2:c.1699G>A NP_001291260.1:p.Asp567Asn NC_000001.11:203053830:G:A p.(Asp567Asn) NC_000001.11:203053830:G:A p.(Asp567Asn) NC_000001.11:203053830:G:A Identity +NM_001142502.2:c.794A>T NP_001135974.1:p.Gln265Leu NC_000019.10:45396354:T:A p.(Gln265Leu) NC_000019.10:45396354:T:A p.(Gln265Leu) NC_000019.10:45396354:T:A Identity +NM_001195228.2:c.362G>A NP_001182157.1:p.Arg121Gln NC_000017.11:6447529:G:A p.(Arg121Gln) NC_000017.11:6447529:G:A p.(Arg121Gln) NC_000017.11:6447529:G:A Identity +NM_018710.3:c.143C>T NP_061180.1:p.Pro48Leu NC_000008.11:91021367:G:A p.(Pro48Leu) NC_000008.11:91021367:G:A p.(Pro48Leu) NC_000008.11:91021367:G:A Identity +NM_001135721.3:c.1637C>G NP_001129193.1:p.Thr546Ser NC_000008.11:22308023:C:G p.(Thr546Ser) NC_000008.11:22308023:C:G p.(Thr546Ser) NC_000008.11:22308023:C:G Identity +NM_000296.4:c.6004G>T NP_000287.4:p.Val2002Phe NC_000016.10:2109162:C:A p.(Val2002Phe) NC_000016.10:2109162:C:A p.(Val2002Phe) NC_000016.10:2109162:C:A Identity +NM_001271641.2:c.713G>T NP_001258570.1:p.Ser238Ile NC_000006.12:36975705:C:A p.(Ser238Ile) NC_000006.12:36975705:C:A p.(Ser238Ile) NC_000006.12:36975705:C:A Identity +NM_177531.6:c.7306C>A NP_803875.2:p.Gln2436Lys NC_000008.11:109461830:C:A p.(Gln2436Lys) NC_000008.11:109461830:C:A p.(Gln2436Lys) NC_000008.11:109461830:C:A Identity +NM_001320707.2:c.1595G>A NP_001307636.1:p.Arg532Gln NC_000001.11:88805952:G:A p.(Arg532Gln) NC_000001.11:88805952:G:A p.(Arg532Gln) NC_000001.11:88805952:G:A Identity +NM_001286258.2:c.781A>G NP_001273187.1:p.Met261Val NC_000021.9:43029921:A:G p.(Met261Val) NC_000021.9:43029921:A:G p.(Met261Val) NC_000021.9:43029921:A:G Identity +NM_001303029.2:c.1015G>A NP_001289958.1:p.Ala339Thr NC_000011.10:397563:G:A p.(Ala339Thr) NC_000011.10:397563:G:A p.(Ala339Thr) NC_000011.10:397563:G:A Identity +NM_001007267.3:c.2777G>C NP_001007268.1:p.Ser926Thr NC_000002.12:159967665:C:G p.(Ser926Thr) NC_000002.12:159967665:C:G p.(Ser926Thr) NC_000002.12:159967665:C:G Identity +NM_001316887.2:c.599A>G NP_001303816.1:p.Asp200Gly NC_000023.11:134566083:T:C p.(Asp200Gly) NC_000023.11:134566083:T:C p.(Asp200Gly) NC_000023.11:134566083:T:C Identity +NM_001170585.2:c.739C>A NP_001164056.1:p.Pro247Thr NC_000002.12:28540372:C:A p.(Pro247Thr) NC_000002.12:28540372:C:A p.(Pro247Thr) NC_000002.12:28540372:C:A Identity +NM_002660.3:c.3766C>A NP_002651.2:p.Gln1256Lys NC_000020.11:41174243:C:A p.(Gln1256Lys) NC_000020.11:41174243:C:A p.(Gln1256Lys) NC_000020.11:41174243:C:A Identity +NM_001308174.2:c.154G>A NP_001295103.1:p.Val52Met NC_000014.9:104927714:G:A p.(Val52Met) NC_000014.9:104927714:G:A p.(Val52Met) NC_000014.9:104927714:G:A Identity +NM_001303012.2:c.1717G>A NP_001289941.1:p.Asp573Asn NC_000001.11:2495532:G:A p.(Asp573Asn) NC_000001.11:2495532:G:A p.(Asp573Asn) NC_000001.11:2495532:G:A Identity +NM_001130081.3:c.515G>C NP_001123553.1:p.Arg172Thr NC_000003.12:171734889:C:G p.(Arg172Thr) NC_000003.12:171734889:C:G p.(Arg172Thr) NC_000003.12:171734889:C:G Identity +NM_001243108.2:c.139T>A NP_001230037.1:p.Tyr47Asn NC_000017.11:4808012:T:A p.(Tyr47Asn) NC_000017.11:4808012:T:A p.(Tyr47Asn) NC_000017.11:4808012:T:A Identity +NM_001308147.2:c.1162C>T NP_001295076.1:p.His388Tyr NC_000014.9:64732130:C:T p.(His388Tyr) NC_000014.9:64732130:C:T p.(His388Tyr) NC_000014.9:64732130:C:T Identity +NM_001129727.3:c.2307G>C NP_001123199.1:p.Gln769His NC_000016.10:67285400:G:C p.(Gln769His) NC_000016.10:67285400:G:C p.(Gln769His) NC_000016.10:67285400:G:C Identity +NM_001195059.2:c.1171G>A NP_001181988.1:p.Glu391Lys NC_000015.10:64865735:G:A p.(Glu391Lys) NC_000015.10:64865735:G:A p.(Glu391Lys) NC_000015.10:64865735:G:A Identity +NM_001164189.2:c.1190G>T NP_001157661.1:p.Arg397Leu NC_000019.10:4839303:C:A p.(Arg397Leu) NC_000019.10:4839303:C:A p.(Arg397Leu) NC_000019.10:4839303:C:A Identity +NM_052909.5:c.2981C>G NP_443141.4:p.Pro994Arg NC_000005.10:163052:C:G p.(Pro994Arg) NC_000005.10:163052:C:G p.(Pro994Arg) NC_000005.10:163052:C:G Identity +NM_001352825.2:c.1466G>C NP_001339754.1:p.Cys489Ser NC_000017.11:45458281:C:G p.(Cys489Ser) NC_000017.11:45458281:C:G p.(Cys489Ser) NC_000017.11:45458281:C:G Identity +NM_001352825.2:c.973G>A NP_001339754.1:p.Gly325Arg NC_000017.11:45468543:C:T p.(Gly325Arg) NC_000017.11:45468543:C:T p.(Gly325Arg) NC_000017.11:45468543:C:T Identity +NM_001367868.2:c.1637C>T NP_001354797.1:p.Ala546Val NC_000019.10:4512322:G:A p.(Ala546Val) NC_000019.10:4512322:G:A p.(Ala546Val) NC_000019.10:4512322:G:A Identity +NM_000302.4:c.956G>T NP_000293.2:p.Arg319Leu NC_000001.11:11958627:G:T p.(Arg319Leu) NC_000001.11:11958627:G:T p.(Arg319Leu) NC_000001.11:11958627:G:T Identity +NM_001030059.3:c.535C>T NP_001025230.1:p.Leu179Phe NC_000010.11:120575219:C:T p.(Leu179Phe) NC_000010.11:120575219:C:T p.(Leu179Phe) NC_000010.11:120575219:C:T Identity +NM_001170635.2:c.224C>T NP_001164106.1:p.Pro75Leu NC_000019.10:11359863:C:T p.(Pro75Leu) NC_000019.10:11359863:C:T p.(Pro75Leu) NC_000019.10:11359863:C:T Identity +NM_001130082.3:c.5711G>A NP_001123554.1:p.Arg1904Gln NC_000003.12:48409971:C:T p.(Arg1904Gln) NC_000003.12:48409971:C:T p.(Arg1904Gln) NC_000003.12:48409971:C:T Identity +NM_001376864.1:c.1435C>T NP_001363793.1:p.Arg479Cys NC_000022.11:50287982:G:A p.(Arg479Cys) NC_000022.11:50287982:G:A p.(Arg479Cys) NC_000022.11:50287982:G:A Identity +NM_001163257.2:c.1960G>A NP_001156729.1:p.Ala654Thr NC_000023.11:153770441:G:A p.(Ala654Thr) NC_000023.11:153770441:G:A p.(Ala654Thr) NC_000023.11:153770441:G:A Identity +NM_002675.4:c.250T>G NP_002666.1:p.Ser84Ala NC_000015.10:73998123:T:G p.(Ser84Ala) NC_000015.10:73998123:T:G p.(Ser84Ala) NC_000015.10:73998123:T:G Identity +NM_002718.5:c.1933G>T NP_002709.2:p.Gly645Cys NC_000003.12:136003430:G:T p.(Gly645Cys) NC_000003.12:136003430:G:T p.(Gly645Cys) NC_000003.12:136003430:G:T Identity +NM_002718.5:c.2087A>G NP_002709.2:p.His696Arg NC_000003.12:136026922:A:G p.(His696Arg) NC_000003.12:136026922:A:G p.(His696Arg) NC_000003.12:136026922:A:G Identity +NM_001305155.2:c.476G>C NP_001292084.1:p.Trp159Ser NC_000014.9:35096589:C:G p.(Trp159Ser) NC_000014.9:35096589:C:G p.(Trp159Ser) NC_000014.9:35096589:C:G Identity +NM_001177675.2:c.449C>T NP_001171146.1:p.Thr150Met NC_000022.11:43886460:G:A p.(Thr150Met) NC_000022.11:43886460:G:A p.(Thr150Met) NC_000022.11:43886460:G:A Identity +NM_001098537.3:c.2986T>C NP_001092007.2:p.Ser996Pro NC_000009.12:137467369:A:G p.(Ser996Pro) NC_000009.12:137467369:A:G p.(Ser996Pro) NC_000009.12:137467369:A:G Identity +NM_001098537.3:c.458A>G NP_001092007.2:p.Lys153Arg NC_000009.12:137543479:T:C p.(Lys153Arg) NC_000009.12:137543479:T:C p.(Lys153Arg) NC_000009.12:137543479:T:C Identity +NM_015425.6:c.2395G>A NP_056240.2:p.Val799Met NC_000002.12:86049239:C:T p.(Val799Met) NC_000002.12:86049239:C:T p.(Val799Met) NC_000002.12:86049239:C:T Identity +NM_001002926.2:c.445G>C NP_001002926.1:p.Gly149Arg NC_000007.14:19700231:C:G p.(Gly149Arg) NC_000007.14:19700231:C:G p.(Gly149Arg) NC_000007.14:19700231:C:G Identity +NM_000937.5:c.5524A>T NP_000928.1:p.Thr1842Ser NC_000017.11:7513789:A:T p.(Thr1842Ser) NC_000017.11:7513789:A:T p.(Thr1842Ser) NC_000017.11:7513789:A:T Identity +NM_015458.4:c.652G>C NP_056273.2:p.Glu218Gln NC_000008.11:11306249:G:C p.(Glu218Gln) NC_000008.11:11306249:G:C p.(Glu218Gln) NC_000008.11:11306249:G:C Identity +NM_001244682.2:c.544G>A NP_001231611.1:p.Gly182Arg NC_000011.10:120305122:G:A p.(Gly182Arg) NC_000011.10:120305122:G:A p.(Gly182Arg) NC_000011.10:120305122:G:A Identity +NM_021129.4:c.539C>G NP_066952.1:p.Pro180Arg NC_000010.11:70209657:G:C p.(Pro180Arg) NC_000010.11:70209657:G:C p.(Pro180Arg) NC_000010.11:70209657:G:C Identity +NM_001377986.2:c.473A>G NP_001364915.1:p.His158Arg NC_000023.11:18757702:A:G p.(His158Arg) NC_000023.11:18757702:A:G p.(His158Arg) NC_000023.11:18757702:A:G Identity +NM_002706.6:c.1222C>G NP_002697.1:p.Arg408Gly NC_000002.12:44230499:C:G p.(Arg408Gly) NC_000002.12:44230499:C:G p.(Arg408Gly) NC_000002.12:44230499:C:G Identity +NM_001331029.2:c.1940G>A NP_001317958.1:p.Arg647His NC_000001.11:202449077:G:A p.(Arg647His) NC_000001.11:202449077:G:A p.(Arg647His) NC_000001.11:202449077:G:A Identity +NM_001167857.2:c.227A>G NP_001161329.1:p.Lys76Arg NC_000001.11:202349077:A:G p.(Lys76Arg) NC_000001.11:202349077:A:G p.(Lys76Arg) NC_000001.11:202349077:A:G Identity +NM_030949.3:c.148G>A NP_112211.1:p.Val50Met NC_000006.12:150143339:G:A p.(Val50Met) NC_000006.12:150143339:G:A p.(Val50Met) NC_000006.12:150143339:G:A Identity +NM_015360.5:c.2764C>T NP_056175.3:p.Pro922Ser NC_000005.10:55414193:C:T p.(Pro922Ser) NC_000005.10:55414193:C:T p.(Pro922Ser) NC_000005.10:55414193:C:T Identity +NM_019121.2:c.1981G>A NP_061994.1:p.Gly661Ser NC_000019.10:45146036:G:A p.(Gly661Ser) NC_000019.10:45146036:G:A p.(Gly661Ser) NC_000019.10:45146036:G:A Identity +NM_005398.7:c.509C>G NP_005389.1:p.Thr170Arg NC_000010.11:91630371:G:C p.(Thr170Arg) NC_000010.11:91630371:G:C p.(Thr170Arg) NC_000010.11:91630371:G:C Identity +NM_001042388.3:c.2549C>T NP_001035847.1:p.Thr850Ile NC_000018.10:9549336:G:A p.(Thr850Ile) NC_000018.10:9549336:G:A p.(Thr850Ile) NC_000018.10:9549336:G:A Identity +NM_014931.4:c.740C>T NP_055746.3:p.Thr247Met NC_000019.10:55242270:G:A p.(Thr247Met) NC_000019.10:55242270:G:A p.(Thr247Met) NC_000019.10:55242270:G:A Identity +NM_001080826.3:c.1123G>C NP_001074295.2:p.Glu375Gln NC_000008.11:8377285:C:G p.(Glu375Gln) NC_000008.11:8377285:C:G p.(Glu375Gln) NC_000008.11:8377285:C:G Identity +NM_001007257.3:c.2651T>C NP_001007258.1:p.Val884Ala NC_000001.11:13781048:T:C p.(Val884Ala) NC_000001.11:13781048:T:C p.(Val884Ala) NC_000001.11:13781048:T:C Identity +NM_001001924.3:c.3799A>G NP_001001924.1:p.Ile1267Val NC_000008.11:17645939:T:C p.(Ile1267Val) NC_000008.11:17645939:T:C p.(Ile1267Val) NC_000008.11:17645939:T:C Identity +NM_001127708.3:c.1679C>T NP_001121180.2:p.Ala560Val NC_000001.11:186307520:C:T p.(Ala560Val) NC_000001.11:186307520:C:T p.(Ala560Val) NC_000001.11:186307520:C:T Identity +NM_001307979.2:c.862C>T NP_001294908.1:p.Arg288Cys NC_000023.11:49177091:G:A p.(Arg288Cys) NC_000023.11:49177091:G:A p.(Arg288Cys) NC_000023.11:49177091:G:A Identity +NM_002736.3:c.683A>G NP_002727.2:p.Tyr228Cys NC_000007.14:107146402:A:G p.(Tyr228Cys) NC_000007.14:107146402:A:G p.(Tyr228Cys) NC_000007.14:107146402:A:G Identity +NM_018137.3:c.1039C>T NP_060607.2:p.Arg347Trp NC_000001.11:107057753:C:T p.(Arg347Trp) NC_000001.11:107057753:C:T p.(Arg347Trp) NC_000001.11:107057753:C:T Identity +NM_001165977.3:c.2105C>T NP_001159449.1:p.Ser702Leu NC_000002.12:95287142:C:T p.(Ser702Leu) NC_000002.12:95287142:C:T p.(Ser702Leu) NC_000002.12:95287142:C:T Identity +NM_020719.3:c.299C>A NP_065770.1:p.Pro100His NC_000019.10:49594552:C:A p.(Pro100His) NC_000019.10:49594552:C:A p.(Pro100His) NC_000019.10:49594552:C:A Identity +NM_001164257.2:c.555C>T NP_001157729.1:p.Ala185= NC_000017.11:64001745:C:T p.(Ala185=) NC_000017.11:64001745:C:T p.(Ala185=) NC_000017.11:64001745:C:T Identity +NM_145270.3:c.979G>C NP_660313.1:p.Glu327Gln NC_000016.10:564272:G:C p.(Glu327Gln) NC_000016.10:564272:G:C p.(Glu327Gln) NC_000016.10:564272:G:C Identity +NM_004638.4:c.637C>T NP_004629.3:p.Arg213Cys NC_000006.12:31625488:C:T p.(Arg213Cys) NC_000006.12:31625488:C:T p.(Arg213Cys) NC_000006.12:31625488:C:T Identity +NM_001384818.1:c.6065A>G NP_001371747.1:p.Tyr2022Cys NC_000009.12:131487935:A:G p.(Tyr2022Cys) NC_000009.12:131487935:A:G p.(Tyr2022Cys) NC_000009.12:131487935:A:G Identity +NM_001387844.1:c.6904T>G NP_001374773.1:p.Ser2302Ala NC_000001.11:171575076:T:G p.(Ser2302Ala) NC_000001.11:171575076:T:G p.(Ser2302Ala) NC_000001.11:171575076:T:G Identity +NM_001040105.2:c.6022A>G NP_001035194.1:p.Thr2008Ala NC_000007.14:101037437:A:G p.(Thr2008Ala) NC_000007.14:101037437:A:G p.(Thr2008Ala) NC_000007.14:101037437:A:G Identity +NM_001270366.2:c.778C>T NP_001257295.1:p.Pro260Ser NC_000019.10:814486:G:A p.(Pro260Ser) NC_000019.10:814486:G:A p.(Pro260Ser) NC_000019.10:814486:G:A Identity +NM_001166252.2:c.1889T>C NP_001159724.2:p.Leu630Pro NC_000001.11:99306924:T:C p.(Leu630Pro) NC_000001.11:99306924:T:C p.(Leu630Pro) NC_000001.11:99306924:T:C Identity +NM_001130082.3:c.5575C>T NP_001123554.1:p.Arg1859Trp NC_000003.12:48410325:G:A p.(Arg1859Trp) NC_000003.12:48410325:G:A p.(Arg1859Trp) NC_000003.12:48410325:G:A Identity +NM_001376864.1:c.1004G>A NP_001363793.1:p.Arg335Gln NC_000022.11:50289580:C:T p.(Arg335Gln) NC_000022.11:50289580:C:T p.(Arg335Gln) NC_000022.11:50289580:C:T Identity +NM_001376864.1:c.2965G>A NP_001363793.1:p.Glu989Lys NC_000022.11:50282732:C:T p.(Glu989Lys) NC_000022.11:50282732:C:T p.(Glu989Lys) NC_000022.11:50282732:C:T Identity +NM_001282944.2:c.811C>G NP_001269873.1:p.Arg271Gly NC_000009.12:136419046:C:G p.(Arg271Gly) NC_000009.12:136419046:C:G p.(Arg271Gly) NC_000009.12:136419046:C:G Identity +NM_001039582.3:c.364C>T NP_001034671.3:p.His122Tyr NC_000023.11:153672650:G:A p.(His122Tyr) NC_000023.11:153672650:G:A p.(His122Tyr) NC_000023.11:153672650:G:A Identity +NM_001011709.3:c.949A>G NP_001011709.2:p.Lys317Glu NC_000010.11:116469205:A:G p.(Lys317Glu) NC_000010.11:116469205:A:G p.(Lys317Glu) NC_000010.11:116469205:A:G Identity +NM_001080826.3:c.1328G>A NP_001074295.2:p.Gly443Asp NC_000008.11:8377080:C:T p.(Gly443Asp) NC_000008.11:8377080:C:T p.(Gly443Asp) NC_000008.11:8377080:C:T Identity +NM_001080826.3:c.962C>T NP_001074295.2:p.Ser321Phe NC_000008.11:8377446:G:A p.(Ser321Phe) NC_000008.11:8377446:G:A p.(Ser321Phe) NC_000008.11:8377446:G:A Identity +NM_001080830.5:c.663G>T NP_001074299.2:p.Arg221Ser NC_000001.11:12775917:G:T p.(Arg221Ser) NC_000001.11:12775917:G:T p.(Arg221Ser) NC_000001.11:12775917:G:T Identity +NM_012406.4:c.2372A>T NP_036538.3:p.Tyr791Phe NC_000012.12:107734243:T:A p.(Tyr791Phe) NC_000012.12:107734243:T:A p.(Tyr791Phe) NC_000012.12:107734243:T:A Identity +NM_002738.7:c.1379A>G NP_002729.2:p.Lys460Arg NC_000016.10:24174564:A:G p.(Lys460Arg) NC_000016.10:24174564:A:G p.(Lys460Arg) NC_000016.10:24174564:A:G Identity +NM_005813.6:c.496A>G NP_005804.1:p.Thr166Ala NC_000002.12:37290930:T:C p.(Thr166Ala) NC_000002.12:37290930:T:C p.(Thr166Ala) NC_000002.12:37290930:T:C Identity +NM_001256134.2:c.184C>T NP_001243063.1:p.Arg62Cys NC_000013.11:113160060:C:T p.(Arg62Cys) NC_000013.11:113160060:C:T p.(Arg62Cys) NC_000013.11:113160060:C:T Identity +NM_001320464.3:c.1274G>C NP_001307393.1:p.Arg425Thr NC_000016.10:30655379:G:C p.(Arg425Thr) NC_000016.10:30655379:G:C p.(Arg425Thr) NC_000016.10:30655379:G:C Identity +NM_001040105.2:c.3190A>T NP_001035194.1:p.Thr1064Ser NC_000007.14:101034605:A:T p.(Thr1064Ser) NC_000007.14:101034605:A:T p.(Thr1064Ser) NC_000007.14:101034605:A:T Identity +NM_001040105.2:c.4232C>T NP_001035194.1:p.Ser1411Phe NC_000007.14:101035647:C:T p.(Ser1411Phe) NC_000007.14:101035647:C:T p.(Ser1411Phe) NC_000007.14:101035647:C:T Identity +NM_001190467.2:c.2563C>T NP_001177396.1:p.Pro855Ser NC_000019.10:7870680:G:A p.(Pro855Ser) NC_000019.10:7870680:G:A p.(Pro855Ser) NC_000019.10:7870680:G:A Identity +NM_001384818.1:c.1273G>A NP_001371747.1:p.Ala425Thr NC_000009.12:131459224:G:A p.(Ala425Thr) NC_000009.12:131459224:G:A p.(Ala425Thr) NC_000009.12:131459224:G:A Identity +NM_001387844.1:c.8656A>G NP_001374773.1:p.Ile2886Val NC_000001.11:171591805:A:G p.(Ile2886Val) NC_000001.11:171591805:A:G p.(Ile2886Val) NC_000001.11:171591805:A:G Identity +NM_013270.5:c.352G>A NP_037402.1:p.Glu118Lys NC_000003.12:46715652:C:T p.(Glu118Lys) NC_000003.12:46715652:C:T p.(Glu118Lys) NC_000003.12:46715652:C:T Identity +NM_001308047.2:c.1067G>A NP_001294976.1:p.Arg356Lys NC_000009.12:76711206:C:T p.(Arg356Lys) NC_000009.12:76711206:C:T p.(Arg356Lys) NC_000009.12:76711206:C:T Identity +NM_153698.2:c.130G>A NP_714542.1:p.Gly44Arg NC_000009.12:96655151:C:T p.(Gly44Arg) NC_000009.12:96655151:C:T p.(Gly44Arg) NC_000009.12:96655151:C:T Identity +NM_001270965.2:c.1360G>C NP_001257894.1:p.Asp454His NC_000010.11:102413961:C:G p.(Asp454His) NC_000010.11:102413961:C:G p.(Asp454His) NC_000010.11:102413961:C:G Identity +NM_012455.3:c.2264C>T NP_036587.2:p.Pro755Leu NC_000002.12:113196184:C:T p.(Pro755Leu) NC_000002.12:113196184:C:T p.(Pro755Leu) NC_000002.12:113196184:C:T Identity +NM_001276495.2:c.892C>T NP_001263424.1:p.Leu298Phe NC_000019.10:43194411:G:A p.(Leu298Phe) NC_000019.10:43194411:G:A p.(Leu298Phe) NC_000019.10:43194411:G:A Identity +NM_002816.5:c.17C>T NP_002807.1:p.Ser6Leu NC_000017.11:67366502:G:A p.(Ser6Leu) NC_000017.11:67366502:G:A p.(Ser6Leu) NC_000017.11:67366502:G:A Identity +NM_002813.7:c.149T>C NP_002804.2:p.Ile50Thr NC_000012.12:121894748:T:C p.(Ile50Thr) NC_000012.12:121894748:T:C p.(Ile50Thr) NC_000012.12:121894748:T:C Identity +NM_000956.4:c.205G>A NP_000947.2:p.Val69Met NC_000014.9:52314752:G:A p.(Val69Met) NC_000014.9:52314752:G:A p.(Val69Met) NC_000014.9:52314752:G:A Identity +NM_020440.4:c.412G>T NP_065173.2:p.Val138Phe NC_000001.11:116942076:G:T p.(Val138Phe) NC_000001.11:116942076:G:T p.(Val138Phe) NC_000001.11:116942076:G:T Identity +NM_001146154.2:c.134A>G NP_001139626.1:p.Tyr45Cys NC_000014.9:73860634:A:G p.(Tyr45Cys) NC_000014.9:73860634:A:G p.(Tyr45Cys) NC_000014.9:73860634:A:G Identity +NM_001146154.2:c.263C>G NP_001139626.1:p.Thr88Arg NC_000014.9:73874128:C:G p.(Thr88Arg) NC_000014.9:73874128:C:G p.(Thr88Arg) NC_000014.9:73874128:C:G Identity +NM_000702.4:c.2450T>A NP_000693.1:p.Ile817Asn NC_000001.11:160136256:T:A p.(Ile817Asn) NC_000001.11:160136256:T:A p.(Ile817Asn) NC_000001.11:160136256:T:A Identity +NM_001184.4:c.4111T>C NP_001175.2:p.Phe1371Leu NC_000003.12:142524033:A:G p.(Phe1371Leu) NC_000003.12:142524033:A:G p.(Phe1371Leu) NC_000003.12:142524033:A:G Identity +NM_001184.4:c.6326G>T NP_001175.2:p.Arg2109Leu NC_000003.12:142469562:C:A p.(Arg2109Leu) NC_000003.12:142469562:C:A p.(Arg2109Leu) NC_000003.12:142469562:C:A Identity +NM_001184.4:c.6907C>T NP_001175.2:p.Leu2303Phe NC_000003.12:142465230:G:A p.(Leu2303Phe) NC_000003.12:142465230:G:A p.(Leu2303Phe) NC_000003.12:142465230:G:A Identity +NM_001277115.2:c.2222A>G NP_001264044.1:p.Asp741Gly NC_000007.14:21590969:A:G p.(Asp741Gly) NC_000007.14:21590969:A:G p.(Asp741Gly) NC_000007.14:21590969:A:G Identity +NM_001430.5:c.455G>A NP_001421.2:p.Gly152Asp NC_000002.12:46360637:G:A p.(Gly152Asp) NC_000002.12:46360637:G:A p.(Gly152Asp) NC_000002.12:46360637:G:A Identity +NM_002439.5:c.598C>T NP_002430.3:p.Leu200Phe NC_000005.10:80670114:C:T p.(Leu200Phe) NC_000005.10:80670114:C:T p.(Leu200Phe) NC_000005.10:80670114:C:T Identity +NM_003619.4:c.557A>G NP_003610.2:p.Tyr186Cys NC_000004.12:118338259:T:C p.(Tyr186Cys) NC_000004.12:118338259:T:C p.(Tyr186Cys) NC_000004.12:118338259:T:C Identity +NM_001040105.2:c.7560A>G NP_001035194.1:p.Ile2520Met NC_000007.14:101038975:A:G p.(Ile2520Met) NC_000007.14:101038975:A:G p.(Ile2520Met) NC_000007.14:101038975:A:G Identity +NM_001039503.3:c.109A>G NP_001034592.1:p.Lys37Glu NC_000016.10:31087669:T:C p.(Lys37Glu) NC_000016.10:31087669:T:C p.(Lys37Glu) NC_000016.10:31087669:T:C Identity +NM_001308047.2:c.6529A>G NP_001294976.1:p.Ile2177Val NC_000009.12:76705744:T:C p.(Ile2177Val) NC_000009.12:76705744:T:C p.(Ile2177Val) NC_000009.12:76705744:T:C Identity +NM_001195736.3:c.350G>A NP_001182665.4:p.Gly117Asp NC_000001.11:2588364:G:A p.(Gly117Asp) NC_000001.11:2588364:G:A p.(Gly117Asp) NC_000001.11:2588364:G:A Identity +NM_001085382.2:c.680A>C NP_001078851.1:p.Tyr227Ser NC_000004.12:7434199:T:G p.(Tyr227Ser) NC_000004.12:7434199:T:G p.(Tyr227Ser) NC_000004.12:7434199:T:G Identity +NM_001276495.2:c.560T>C NP_001263424.1:p.Leu187Pro NC_000019.10:43195143:A:G p.(Leu187Pro) NC_000019.10:43195143:A:G p.(Leu187Pro) NC_000019.10:43195143:A:G Identity +NM_001270482.2:c.419C>G NP_001257411.1:p.Thr140Ser NC_000017.11:32464548:C:G p.(Thr140Ser) NC_000017.11:32464548:C:G p.(Thr140Ser) NC_000017.11:32464548:C:G Identity +NM_001281528.2:c.515C>T NP_001268457.1:p.Thr172Ile NC_000014.9:24138250:C:T p.(Thr172Ile) NC_000014.9:24138250:C:T p.(Thr172Ile) NC_000014.9:24138250:C:T Identity +NM_001198815.1:c.4739C>T NP_001185744.1:p.Thr1580Met NC_000006.12:31032264:C:T p.(Thr1580Met) NC_000006.12:31032264:C:T p.(Thr1580Met) NC_000006.12:31032264:C:T Identity +NM_014614.3:c.2393G>A NP_055429.2:p.Cys798Tyr NC_000002.12:53920219:C:T p.(Cys798Tyr) NC_000002.12:53920219:C:T p.(Cys798Tyr) NC_000002.12:53920219:C:T Identity +NM_017952.6:c.1980G>C NP_060422.4:p.Lys660Asn NC_000002.12:86137468:G:C p.(Lys660Asn) NC_000002.12:86137468:G:C p.(Lys660Asn) NC_000002.12:86137468:G:C Identity +NM_000316.3:c.1121A>G NP_000307.1:p.Asn374Ser NC_000003.12:46901769:A:G p.(Asn374Ser) NC_000003.12:46901769:A:G p.(Asn374Ser) NC_000003.12:46901769:A:G Identity +NM_001148.6:c.6727A>T NP_001139.3:p.Ser2243Cys NC_000004.12:113355344:A:T p.(Ser2243Cys) NC_000004.12:113355344:A:T p.(Ser2243Cys) NC_000004.12:113355344:A:T Identity +NM_001184.4:c.3522G>A NP_001175.2:p.Met1174Ile NC_000003.12:142540962:C:T p.(Met1174Ile) NC_000003.12:142540962:C:T p.(Met1174Ile) NC_000003.12:142540962:C:T Identity +NM_001184.4:c.467T>C NP_001175.2:p.Leu156Ser NC_000003.12:142562934:A:G p.(Leu156Ser) NC_000003.12:142562934:A:G p.(Leu156Ser) NC_000003.12:142562934:A:G Identity +NM_001211.6:c.1325T>C NP_001202.5:p.Met442Thr NC_000015.10:40199650:T:C p.(Met442Thr) NC_000015.10:40199650:T:C p.(Met442Thr) NC_000015.10:40199650:T:C Identity +NM_001430.5:c.1384G>T NP_001421.2:p.Ala462Ser NC_000002.12:46378027:G:T p.(Ala462Ser) NC_000002.12:46378027:G:T p.(Ala462Ser) NC_000002.12:46378027:G:T Identity +NM_001290307.3:c.1958G>A NP_001277236.1:p.Arg653Lys NC_000005.10:138929303:G:A p.(Arg653Lys) NC_000005.10:138929303:G:A p.(Arg653Lys) NC_000005.10:138929303:G:A Identity +NM_002317.7:c.558C>G NP_002308.2:p.Tyr186Ter NC_000005.10:122077427:G:C p.(Tyr186Ter) NC_000005.10:122077427:G:C p.(Tyr186Ter) NC_000005.10:122077427:G:C Identity +NM_002439.5:c.81C>G NP_002430.3:p.Phe27Leu NC_000005.10:80654807:C:G p.(Phe27Leu) NC_000005.10:80654807:C:G p.(Phe27Leu) NC_000005.10:80654807:C:G Identity +NM_002471.4:c.4891C>G NP_002462.2:p.Leu1631Val NC_000014.9:23386382:G:C p.(Leu1631Val) NC_000014.9:23386382:G:C p.(Leu1631Val) NC_000014.9:23386382:G:C Identity +NM_133635.6:c.1217C>T NP_598368.2:p.Thr406Met NC_000021.9:45265554:G:A p.(Thr406Met) NC_000021.9:45265554:G:A p.(Thr406Met) NC_000021.9:45265554:G:A Identity +NM_020231.3:c.553G>A NP_064616.2:p.Asp185Asn NC_000003.12:119480146:G:A ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:Data provider error: ValueError: Transcript NM_020231.3 not found ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_020231.3, alt_ac=NM_020231.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_020231.3 not found +NM_001363502.2:c.292G>A NP_001350431.1:p.Gly98Arg NC_000011.10:108491077:C:T p.(Gly98Arg) NC_000011.10:108491077:C:T p.(Gly98Arg) NC_000011.10:108491077:C:T Identity +NM_001174084.2:c.352T>C NP_001167555.1:p.Cys118Arg NC_000010.11:101585919:A:G p.(Cys118Arg) NC_000010.11:101585919:A:G p.(Cys118Arg) NC_000010.11:101585919:A:G Identity +NM_001257190.3:c.1954G>A NP_001244119.1:p.Asp652Asn NC_000007.14:72942741:G:A p.(Asp652Asn) NC_000007.14:72942741:G:A p.(Asp652Asn) NC_000007.14:72942741:G:A Identity +NM_001099415.3:c.749G>A NP_001092885.2:p.Arg250Gln NC_000007.14:75425092:C:T p.(Arg250Gln) NC_000007.14:75425092:C:T p.(Arg250Gln) NC_000007.14:75425092:C:T Identity +NM_033482.4:c.235T>C NP_258443.2:p.Phe79Leu NC_000006.12:27311935:A:G p.(Phe79Leu) NC_000006.12:27311935:A:G p.(Phe79Leu) NC_000006.12:27311935:A:G Identity +NM_001145860.2:c.1510A>C NP_001139332.1:p.Ile504Leu NC_000008.11:98140803:A:C p.(Ile504Leu) NC_000008.11:98140803:A:C p.(Ile504Leu) NC_000008.11:98140803:A:C Identity +NM_001005356.3:c.213G>T NP_001005356.1:p.Trp71Cys NC_000014.9:19434076:C:A p.(Trp71Cys) NC_000014.9:19434076:C:A p.(Trp71Cys) NC_000014.9:19434076:C:A Identity +NM_004575.3:c.1219G>A NP_004566.2:p.Ala407Thr NC_000004.12:146640796:G:A p.(Ala407Thr) NC_000004.12:146640796:G:A p.(Ala407Thr) NC_000004.12:146640796:G:A Identity +NM_001172698.2:c.125T>G NP_001166169.1:p.Leu42Arg NC_000005.10:149820478:T:G p.(Leu42Arg) NC_000005.10:149820478:T:G p.(Leu42Arg) NC_000005.10:149820478:T:G Identity +NM_001378006.1:c.2447T>G NP_001364935.1:p.Val816Gly NC_000011.10:70355664:T:G p.(Val816Gly) NC_000011.10:70355664:T:G p.(Val816Gly) NC_000011.10:70355664:T:G Identity +NM_001351853.2:c.347G>A NP_001338782.2:p.Gly116Glu NC_000011.10:7593198:G:A p.(Gly116Glu) NC_000011.10:7593198:G:A p.(Gly116Glu) NC_000011.10:7593198:G:A Identity +NM_014330.5:c.788G>A NP_055145.3:p.Arg263His NC_000019.10:48874020:G:A p.(Arg263His) NC_000019.10:48874020:G:A p.(Arg263His) NC_000019.10:48874020:G:A Identity +NM_005398.7:c.815C>G NP_005389.1:p.Pro272Arg NC_000010.11:91630065:G:C p.(Pro272Arg) NC_000010.11:91630065:G:C p.(Pro272Arg) NC_000010.11:91630065:G:C Identity +NM_001013626.4:c.596T>C NP_001013648.1:p.Ile199Thr NC_000008.11:66988473:A:G p.(Ile199Thr) NC_000008.11:66988473:A:G p.(Ile199Thr) NC_000008.11:66988473:A:G Identity +NM_001166160.2:c.3478G>A NP_001159632.1:p.Asp1160Asn NC_000007.14:95284198:G:A p.(Asp1160Asn) NC_000007.14:95284198:G:A p.(Asp1160Asn) NC_000007.14:95284198:G:A Identity +NM_001242898.2:c.1454A>G NP_001229827.1:p.Asn485Ser NC_000022.11:50435018:A:G p.(Asn485Ser) NC_000022.11:50435018:A:G p.(Asn485Ser) NC_000022.11:50435018:A:G Identity +NM_001080826.3:c.1816A>G NP_001074295.2:p.Ile606Val NC_000008.11:8376592:T:C p.(Ile606Val) NC_000008.11:8376592:T:C p.(Ile606Val) NC_000008.11:8376592:T:C Identity +NM_001080826.3:c.2113A>G NP_001074295.2:p.Arg705Gly NC_000008.11:8376295:T:C p.(Arg705Gly) NC_000008.11:8376295:T:C p.(Arg705Gly) NC_000008.11:8376295:T:C Identity +NM_001080830.5:c.392G>T NP_001074299.2:p.Arg131Leu NC_000001.11:12775646:G:T p.(Arg131Leu) NC_000001.11:12775646:G:T p.(Arg131Leu) NC_000001.11:12775646:G:T Identity +NM_022114.4:c.1894G>C NP_071397.3:p.Asp632His NC_000001.11:3412090:G:C p.(Asp632His) NC_000001.11:3412090:G:C p.(Asp632His) NC_000001.11:3412090:G:C Identity +NM_024870.4:c.2255A>T NP_079146.2:p.Asp752Val NC_000008.11:68093608:A:T p.(Asp752Val) NC_000008.11:68093608:A:T p.(Asp752Val) NC_000008.11:68093608:A:T Identity +NM_002738.7:c.980A>G NP_002729.2:p.Lys327Arg NC_000016.10:24123895:A:G p.(Lys327Arg) NC_000016.10:24123895:A:G p.(Lys327Arg) NC_000016.10:24123895:A:G Identity +NM_001242413.2:c.1030A>G NP_001229342.1:p.Ile344Val NC_000010.11:6483588:T:C p.(Ile344Val) NC_000010.11:6483588:T:C p.(Ile344Val) NC_000010.11:6483588:T:C Identity +NM_001010891.5:c.256G>A NP_001010891.4:p.Ala86Thr NC_000005.10:79989216:C:T p.(Ala86Thr) NC_000005.10:79989216:C:T p.(Ala86Thr) NC_000005.10:79989216:C:T Identity +NM_014502.5:c.298C>G NP_055317.1:p.Arg100Gly NC_000011.10:60902829:G:C p.(Arg100Gly) NC_000011.10:60902829:G:C p.(Arg100Gly) NC_000011.10:60902829:G:C Identity +NM_020719.3:c.1631A>G NP_065770.1:p.His544Arg NC_000019.10:49595965:A:G p.(His544Arg) NC_000019.10:49595965:A:G p.(His544Arg) NC_000019.10:49595965:A:G Identity +NM_001320464.3:c.620C>T NP_001307393.1:p.Ser207Phe NC_000016.10:30654300:C:T p.(Ser207Phe) NC_000016.10:30654300:C:T p.(Ser207Phe) NC_000016.10:30654300:C:T Identity +NM_214711.4:c.265C>T NP_999876.2:p.His89Tyr NC_000004.12:70158516:C:T p.(His89Tyr) NC_000004.12:70158516:C:T p.(His89Tyr) NC_000004.12:70158516:C:T Identity +NM_214711.4:c.348G>T NP_999876.2:p.Arg116Ser NC_000004.12:70158599:G:T p.(Arg116Ser) NC_000004.12:70158599:G:T p.(Arg116Ser) NC_000004.12:70158599:G:T Identity +NM_001040105.2:c.4885G>A NP_001035194.1:p.Gly1629Arg NC_000007.14:101036300:G:A p.(Gly1629Arg) NC_000007.14:101036300:G:A p.(Gly1629Arg) NC_000007.14:101036300:G:A Identity +NM_001170423.2:c.123G>T NP_001163894.1:p.Arg41Ser NC_000006.12:83523563:G:T p.(Arg41Ser) NC_000006.12:83523563:G:T p.(Arg41Ser) NC_000006.12:83523563:G:T Identity +NM_001258290.2:c.704G>A NP_001245219.1:p.Arg235His NC_000016.10:31145804:C:T p.(Arg235His) NC_000016.10:31145804:C:T p.(Arg235His) NC_000016.10:31145804:C:T Identity +NM_183375.5:c.762T>A NP_899231.4:p.Asn254Lys NC_000004.12:151291227:T:A p.(Asn254Lys) NC_000004.12:151291227:T:A p.(Asn254Lys) NC_000004.12:151291227:T:A Identity +NM_013270.5:c.962C>T NP_037402.1:p.Thr321Met NC_000003.12:46712441:G:A p.(Thr321Met) NC_000003.12:46712441:G:A p.(Thr321Met) NC_000003.12:46712441:G:A Identity +NM_001136047.1:c.81G>C NP_001129519.1:p.Leu27Phe NC_000010.11:80420547:G:C ERR:Data provider error: ValueError: Transcript NM_001136047.1 not found ERR:Data provider error: ValueError: Transcript NM_001136047.1 not found ERR:AlignmentMapper(tx_ac=NM_001136047.1, alt_ac=NM_001136047.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001136047.1, alt_ac=NM_001136047.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001136047.1 not found +NM_153698.2:c.250A>G NP_714542.1:p.Ser84Gly NC_000009.12:96654715:T:C p.(Ser84Gly) NC_000009.12:96654715:T:C p.(Ser84Gly) NC_000009.12:96654715:T:C Identity +NM_153698.2:c.352T>A NP_714542.1:p.Tyr118Asn NC_000009.12:96651458:A:T p.(Tyr118Asn) NC_000009.12:96651458:A:T p.(Tyr118Asn) NC_000009.12:96651458:A:T Identity +NM_153698.2:c.478C>T NP_714542.1:p.Arg160Trp NC_000009.12:96645967:G:A p.(Arg160Trp) NC_000009.12:96645967:G:A p.(Arg160Trp) NC_000009.12:96645967:G:A Identity +NM_001184825.2:c.221A>G NP_001171754.1:p.Asp74Gly NC_000019.10:42878121:T:C p.(Asp74Gly) NC_000019.10:42878121:T:C p.(Asp74Gly) NC_000019.10:42878121:T:C Identity +NM_031246.4:c.274G>T NP_112536.2:p.Gly92Trp NC_000019.10:43081036:C:A p.(Gly92Trp) NC_000019.10:43081036:C:A p.(Gly92Trp) NC_000019.10:43081036:C:A Identity +NM_001198815.1:c.1151C>G NP_001185744.1:p.Ser384Cys NC_000006.12:31026581:C:G p.(Ser384Cys) NC_000006.12:31026581:C:G p.(Ser384Cys) NC_000006.12:31026581:C:G Identity +NM_001130014.2:c.797A>G NP_001123486.1:p.Asn266Ser NC_000019.10:43175381:T:C p.(Asn266Ser) NC_000019.10:43175381:T:C p.(Asn266Ser) NC_000019.10:43175381:T:C Identity +NM_001206650.2:c.704A>G NP_001193579.1:p.Asp235Gly NC_000019.10:42925945:T:C p.(Asp235Gly) NC_000019.10:42925945:T:C p.(Asp235Gly) NC_000019.10:42925945:T:C Identity +NM_001301708.2:c.557G>A NP_001288637.1:p.Ser186Asn NC_000019.10:43262011:C:T p.(Ser186Asn) NC_000019.10:43262011:C:T p.(Ser186Asn) NC_000019.10:43262011:C:T Identity +NM_033126.3:c.593C>T NP_149117.1:p.Ser198Leu NC_000008.11:86064223:G:A p.(Ser198Leu) NC_000008.11:86064223:G:A p.(Ser198Leu) NC_000008.11:86064223:G:A Identity +NM_001130725.1:c.207C>T NP_001124197.1:p.Tyr69= NC_000014.9:23026364:G:A p.(Tyr69=) NC_000014.9:23026364:G:A p.(Tyr69=) NC_000014.9:23026364:G:A Identity +NM_002813.7:c.310G>A NP_002804.2:p.Asp104Asn NC_000012.12:121899701:G:A p.(Asp104Asn) NC_000012.12:121899701:G:A p.(Asp104Asn) NC_000012.12:121899701:G:A Identity +NM_001411140.1:c.181A>G NP_001398069.1:p.Arg61Gly NC_000019.10:804094:A:G p.(Arg61Gly) NC_000019.10:804094:A:G p.(Arg61Gly) NC_000019.10:804094:A:G Identity +NM_173495.3:c.233G>A NP_775766.2:p.Arg78His NC_000023.11:23335107:G:A p.(Arg78His) NC_000023.11:23335107:G:A p.(Arg78His) NC_000023.11:23335107:G:A Identity +NM_004878.5:c.445G>A NP_004869.1:p.Ala149Thr NC_000009.12:129739624:C:T p.(Ala149Thr) NC_000009.12:129739624:C:T p.(Ala149Thr) NC_000009.12:129739624:C:T Identity +NM_001306093.1:c.295A>G NP_001293022.1:p.Ile99Val NC_000018.10:75201885:T:C p.(Ile99Val) NC_000018.10:75201885:T:C p.(Ile99Val) NC_000018.10:75201885:T:C Identity +NM_024528.4:c.1037C>T NP_078804.2:p.Ser346Leu NC_000023.11:119930051:G:A p.(Ser346Leu) NC_000023.11:119930051:G:A p.(Ser346Leu) NC_000023.11:119930051:G:A Identity +NM_001145642.5:c.1418dup NP_001139114.1:p.Glu474fs NC_000003.12:197694505:A:AA p.(Glu474ArgfsTer11) NC_000003.12:197694505:A:AA p.(Glu474ArgfsTer11) ERR:SPDI Analogous +NM_001148.6:c.7787A>G NP_001139.3:p.Lys2596Arg NC_000004.12:113356404:A:G p.(Lys2596Arg) NC_000004.12:113356404:A:G p.(Lys2596Arg) NC_000004.12:113356404:A:G Identity +NM_001184.4:c.3173A>G NP_001175.2:p.Asn1058Ser NC_000003.12:142547908:T:C p.(Asn1058Ser) NC_000003.12:142547908:T:C p.(Asn1058Ser) NC_000003.12:142547908:T:C Identity +NM_001184.4:c.935A>C NP_001175.2:p.Asn312Thr NC_000003.12:142562466:T:G p.(Asn312Thr) NC_000003.12:142562466:T:G p.(Asn312Thr) NC_000003.12:142562466:T:G Identity +NM_001232.4:c.640G>T NP_001223.2:p.Val214Phe NC_000001.11:115727088:C:A p.(Val214Phe) NC_000001.11:115727088:C:A p.(Val214Phe) NC_000001.11:115727088:C:A Identity +NM_001430.5:c.2324A>T NP_001421.2:p.His775Leu NC_000002.12:46382460:A:T p.(His775Leu) NC_000002.12:46382460:A:T p.(His775Leu) NC_000002.12:46382460:A:T Identity +NM_001127487.2:c.5516G>T NP_001120959.1:p.Gly1839Val NC_000007.14:128851306:G:T p.(Gly1839Val) NC_000007.14:128851306:G:T p.(Gly1839Val) NC_000007.14:128851306:G:T Identity +NM_002354.3:c.152T>G NP_002345.2:p.Val51Gly NC_000002.12:47373537:T:G p.(Val51Gly) NC_000002.12:47373537:T:G p.(Val51Gly) NC_000002.12:47373537:T:G Identity +NM_002354.3:c.926A>G NP_002345.2:p.His309Arg NC_000002.12:47386593:A:G p.(His309Arg) NC_000002.12:47386593:A:G p.(His309Arg) NC_000002.12:47386593:A:G Identity +NM_002439.5:c.3100G>A NP_002430.3:p.Val1034Ile NC_000005.10:80864911:G:A p.(Val1034Ile) NC_000005.10:80864911:G:A p.(Val1034Ile) NC_000005.10:80864911:G:A Identity +NM_002485.5:c.184G>A NP_002476.2:p.Glu62Lys NC_000008.11:89981510:C:T p.(Glu62Lys) NC_000008.11:89981510:C:T p.(Glu62Lys) NC_000008.11:89981510:C:T Identity +NM_001321307.1:c.1340T>C NP_001308236.1:p.Val447Ala NC_000011.10:108173643:A:G p.(Val447Ala) NC_000011.10:108173643:A:G p.(Val447Ala) NC_000011.10:108173643:A:G Identity +NM_001321307.1:c.1675A>G NP_001308236.1:p.Lys559Glu NC_000011.10:108173308:T:C p.(Lys559Glu) NC_000011.10:108173308:T:C p.(Lys559Glu) NC_000011.10:108173308:T:C Identity +NM_001142571.2:c.493C>G NP_001136043.1:p.Arg165Gly NC_000017.11:35107034:G:C p.(Arg165Gly) NC_000017.11:35107034:G:C p.(Arg165Gly) NC_000017.11:35107034:G:C Identity +NM_003079.5:c.275dup NP_003070.3:p.Leu93fs NC_000017.11:40636488:TTT:TTTT p.(Leu93ValfsTer17) NC_000017.11:40636488:TTT:TTTT p.(Leu93ValfsTer17) ERR:SPDI Analogous +NM_001032283.3:c.54T>G NP_001027454.1:p.Ser18Arg NC_000012.12:98515920:T:G p.(Ser18Arg) NC_000012.12:98515920:T:G p.(Ser18Arg) NC_000012.12:98515920:T:G Identity +NM_001005476.4:c.1304T>C NP_001005476.1:p.Leu435Pro NC_000002.12:158631902:T:C p.(Leu435Pro) NC_000002.12:158631902:T:C p.(Leu435Pro) NC_000002.12:158631902:T:C Identity +NM_004064.5:c.157G>A NP_004055.1:p.Glu53Lys NC_000012.12:12717995:G:A p.(Glu53Lys) NC_000012.12:12717995:G:A p.(Glu53Lys) NC_000012.12:12717995:G:A Identity +NM_001278616.2:c.1468T>G NP_001265545.1:p.Ser490Ala NC_000002.12:110657633:A:C p.(Ser490Ala) NC_000002.12:110657633:A:C p.(Ser490Ala) NC_000002.12:110657633:A:C Identity +NM_001278616.2:c.1589C>G NP_001265545.1:p.Ala530Gly NC_000002.12:110657084:G:C p.(Ala530Gly) NC_000002.12:110657084:G:C p.(Ala530Gly) NC_000002.12:110657084:G:C Identity +NM_001278616.2:c.2362G>A NP_001265545.1:p.Asp788Asn NC_000002.12:110642159:C:T p.(Asp788Asn) NC_000002.12:110642159:C:T p.(Asp788Asn) NC_000002.12:110642159:C:T Identity +NM_001278616.2:c.2500T>C NP_001265545.1:p.Ser834Pro NC_000002.12:110641706:A:G p.(Ser834Pro) NC_000002.12:110641706:A:G p.(Ser834Pro) NC_000002.12:110641706:A:G Identity +NM_001014794.3:c.1204A>G NP_001014794.1:p.Met402Val NC_000011.10:6610272:A:G p.(Met402Val) NC_000011.10:6610272:A:G p.(Met402Val) NC_000011.10:6610272:A:G Identity +NM_001363813.1:c.1214A>G NP_001350742.1:p.Glu405Gly NC_000017.11:65537821:T:C p.(Glu405Gly) NC_000017.11:65537821:T:C p.(Glu405Gly) NC_000017.11:65537821:T:C Identity +NM_001040113.2:c.2456A>T NP_001035202.1:p.Gln819Leu NC_000016.10:15745213:T:A p.(Gln819Leu) NC_000016.10:15745213:T:A p.(Gln819Leu) NC_000016.10:15745213:T:A Identity +NM_002471.4:c.882G>C NP_002462.2:p.Lys294Asn NC_000014.9:23403363:C:G p.(Lys294Asn) NC_000014.9:23403363:C:G p.(Lys294Asn) NC_000014.9:23403363:C:G Identity +NM_001040113.2:c.5617G>C NP_001035202.1:p.Glu1873Gln NC_000016.10:15715180:C:G p.(Glu1873Gln) NC_000016.10:15715180:C:G p.(Glu1873Gln) NC_000016.10:15715180:C:G Identity +NM_001321307.1:c.142C>T NP_001308236.1:p.Pro48Ser NC_000011.10:108197315:G:A p.(Pro48Ser) NC_000011.10:108197315:G:A p.(Pro48Ser) NC_000011.10:108197315:G:A Identity +NM_001321307.1:c.1984C>G NP_001308236.1:p.Pro662Ala NC_000011.10:108172999:G:C p.(Pro662Ala) NC_000011.10:108172999:G:C p.(Pro662Ala) NC_000011.10:108172999:G:C Identity +NM_001321307.1:c.3011G>A NP_001308236.1:p.Gly1004Glu NC_000011.10:108162179:C:T p.(Gly1004Glu) NC_000011.10:108162179:C:T p.(Gly1004Glu) NC_000011.10:108162179:C:T Identity +NM_001321307.1:c.3134A>G NP_001308236.1:p.Lys1045Arg NC_000011.10:108161972:T:C p.(Lys1045Arg) NC_000011.10:108161972:T:C p.(Lys1045Arg) NC_000011.10:108161972:T:C Identity +NM_001318193.2:c.685C>T NP_001305122.2:p.His229Tyr NC_000016.10:2039982:G:A p.(His229Tyr) NC_000016.10:2039982:G:A p.(His229Tyr) NC_000016.10:2039982:G:A Identity +NM_001014431.2:c.634G>T NP_001014431.1:p.Ala212Ser NC_000014.9:104773979:C:A p.(Ala212Ser) NC_000014.9:104773979:C:A p.(Ala212Ser) NC_000014.9:104773979:C:A Identity +NM_002907.4:c.1729A>T NP_002898.2:p.Asn577Tyr NC_000012.12:21471036:T:A p.(Asn577Tyr) NC_000012.12:21471036:T:A p.(Asn577Tyr) NC_000012.12:21471036:T:A Identity +NM_005585.5:c.1060G>A NP_005576.3:p.Val354Ile NC_000015.10:66781103:G:A p.(Val354Ile) NC_000015.10:66781103:G:A p.(Val354Ile) NC_000015.10:66781103:G:A Identity +NM_001330347.2:c.1874C>T NP_001317276.1:p.Ser625Phe NC_000011.10:94437225:G:A p.(Ser625Phe) NC_000011.10:94437225:G:A p.(Ser625Phe) NC_000011.10:94437225:G:A Identity +NM_005732.4:c.1783G>A NP_005723.2:p.Ala595Thr NC_000005.10:132592023:G:A p.(Ala595Thr) NC_000005.10:132592023:G:A p.(Ala595Thr) NC_000005.10:132592023:G:A Identity +NM_005732.4:c.3685G>T NP_005723.2:p.Ala1229Ser NC_000005.10:132640737:G:T p.(Ala1229Ser) NC_000005.10:132640737:G:T p.(Ala1229Ser) NC_000005.10:132640737:G:T Identity +NM_001164270.2:c.254G>A NP_001157742.1:p.Gly85Asp NC_000015.10:40706204:G:A p.(Gly85Asp) NC_000015.10:40706204:G:A p.(Gly85Asp) NC_000015.10:40706204:G:A Identity +NM_001379277.1:c.4240A>G NP_001366206.1:p.Lys1414Glu NC_000007.14:92095038:A:G p.(Lys1414Glu) NC_000007.14:92095038:A:G p.(Lys1414Glu) NC_000007.14:92095038:A:G Identity +NM_006218.4:c.2125A>G NP_006209.2:p.Met709Val NC_000003.12:179221094:A:G p.(Met709Val) NC_000003.12:179221094:A:G p.(Met709Val) NC_000003.12:179221094:A:G Identity +NM_001354966.2:c.139T>C NP_001341895.1:p.Cys47Arg NC_000005.10:147828076:A:G p.(Cys47Arg) NC_000005.10:147828076:A:G p.(Cys47Arg) NC_000005.10:147828076:A:G Identity +NM_001282512.3:c.455T>G NP_001269441.1:p.Val152Gly NC_000022.11:19915837:A:C p.(Val152Gly) NC_000022.11:19915837:A:C p.(Val152Gly) NC_000022.11:19915837:A:C Identity +NM_001303245.3:c.13G>A NP_001290174.1:p.Ala5Thr NC_000003.12:141487095:G:A p.(Ala5Thr) NC_000003.12:141487095:G:A p.(Ala5Thr) NC_000003.12:141487095:G:A Identity +NM_001293306.2:c.1849A>T NP_001280235.2:p.Ile617Leu NC_000003.12:38750090:T:A p.(Ile617Leu) NC_000003.12:38750090:T:A p.(Ile617Leu) NC_000003.12:38750090:T:A Identity +NM_001293306.2:c.752T>C NP_001280235.2:p.Ile251Thr NC_000003.12:38761322:A:G p.(Ile251Thr) NC_000003.12:38761322:A:G p.(Ile251Thr) NC_000003.12:38761322:A:G Identity +NM_001142548.2:c.830C>T NP_001136020.1:p.Thr277Ile NC_000001.11:46261323:C:T p.(Thr277Ile) NC_000001.11:46261323:C:T p.(Thr277Ile) NC_000001.11:46261323:C:T Identity +NM_004304.5:c.848T>G NP_004295.2:p.Leu283Arg NC_000002.12:29694953:A:C p.(Leu283Arg) NC_000002.12:29694953:A:C p.(Leu283Arg) NC_000002.12:29694953:A:C Identity +NM_004304.5:c.958T>C NP_004295.2:p.Phe320Leu NC_000002.12:29532110:A:G p.(Phe320Leu) NC_000002.12:29532110:A:G p.(Phe320Leu) NC_000002.12:29532110:A:G Identity +NM_001406559.1:c.867T>A NP_001393488.1:p.Phe289Leu NC_000010.11:86917249:T:A p.(Phe289Leu) NC_000010.11:86917249:T:A p.(Phe289Leu) NC_000010.11:86917249:T:A Identity +NM_000109.4:c.958A>C NP_000100.3:p.Lys320Gln NC_000023.11:32645130:T:G p.(Lys320Gln) NC_000023.11:32645130:T:G p.(Lys320Gln) NC_000023.11:32645130:T:G Identity +NM_001294332.2:c.310C>G NP_001281261.1:p.Gln104Glu NC_000005.10:224518:C:G p.(Gln104Glu) NC_000005.10:224518:C:G p.(Gln104Glu) NC_000005.10:224518:C:G Identity +NM_001005242.3:c.1000A>G NP_001005242.2:p.Thr334Ala NC_000012.12:32877879:T:C p.(Thr334Ala) NC_000012.12:32877879:T:C p.(Thr334Ala) NC_000012.12:32877879:T:C Identity +NM_001410772.1:c.169C>T NP_001397701.1:p.Arg57Trp NC_000003.12:52408559:G:A p.(Arg57Trp) NC_000003.12:52408559:G:A p.(Arg57Trp) NC_000003.12:52408559:G:A Identity +NM_003276.2:c.1925C>T NP_003267.1:p.Thr642Ile NC_000012.12:98534181:C:T p.(Thr642Ile) NC_000012.12:98534181:C:T p.(Thr642Ile) NC_000012.12:98534181:C:T Identity +NM_001256850.1:c.97919dup NP_001243779.1:p.Thr32641fs NC_000002.12:178533772:A:AA p.(Thr32641AsnfsTer12) NC_000002.12:178533772:A:AA p.(Thr32641AsnfsTer12) ERR:SPDI Analogous +NM_001142548.2:c.1040T>A NP_001136020.1:p.Leu347Gln NC_000001.11:46267606:T:A p.(Leu347Gln) NC_000001.11:46267606:T:A p.(Leu347Gln) NC_000001.11:46267606:T:A Identity +NM_014391.3:c.344T>C NP_055206.2:p.Ile115Thr NC_000010.11:90919131:A:G p.(Ile115Thr) NC_000010.11:90919131:A:G p.(Ile115Thr) NC_000010.11:90919131:A:G Identity +NM_001278616.2:c.655A>G NP_001265545.1:p.Lys219Glu NC_000002.12:110667610:T:C p.(Lys219Glu) NC_000002.12:110667610:T:C p.(Lys219Glu) NC_000002.12:110667610:T:C Identity +NM_001317184.2:c.1399G>A NP_001304113.1:p.Asp467Asn NC_000016.10:68819295:G:A p.(Asp467Asn) NC_000016.10:68819295:G:A p.(Asp467Asn) NC_000016.10:68819295:G:A Identity +NM_001365951.3:c.2484A>C NP_001352880.1:p.Glu828Asp NC_000001.11:10324008:A:C p.(Glu828Asp) NC_000001.11:10324008:A:C p.(Glu828Asp) NC_000001.11:10324008:A:C Identity +NM_001410772.1:c.1602T>A NP_001397701.1:p.Asp534Glu NC_000003.12:52403488:A:T p.(Asp534Glu) NC_000003.12:52403488:A:T p.(Asp534Glu) NC_000003.12:52403488:A:T Identity +NM_001410772.1:c.1989G>C NP_001397701.1:p.Met663Ile NC_000003.12:52402614:C:G p.(Met663Ile) NC_000003.12:52402614:C:G p.(Met663Ile) NC_000003.12:52402614:C:G Identity +NM_001007793.3:c.41A>G NP_001007794.1:p.Glu14Gly NC_000010.11:123154957:A:G p.(Glu14Gly) NC_000010.11:123154957:A:G p.(Glu14Gly) NC_000010.11:123154957:A:G Identity +NM_000057.4:c.3562G>A NP_000048.1:p.Asp1188Asn NC_000015.10:90804169:G:A p.(Asp1188Asn) NC_000015.10:90804169:G:A p.(Asp1188Asn) NC_000015.10:90804169:G:A Identity +NM_005120.3:c.3610G>A NP_005111.2:p.Asp1204Asn NC_000023.11:71129347:G:A p.(Asp1204Asn) NC_000023.11:71129347:G:A p.(Asp1204Asn) NC_000023.11:71129347:G:A Identity +NM_005120.3:c.4336G>T NP_005111.2:p.Ala1446Ser NC_000023.11:71132458:G:T p.(Ala1446Ser) NC_000023.11:71132458:G:T p.(Ala1446Ser) NC_000023.11:71132458:G:T Identity +NM_005477.3:c.2248C>T NP_005468.1:p.Arg750Trp NC_000015.10:73323844:G:A p.(Arg750Trp) NC_000015.10:73323844:G:A p.(Arg750Trp) NC_000015.10:73323844:G:A Identity +NM_000057.4:c.481G>A NP_000048.1:p.Asp161Asn NC_000015.10:90749748:G:A p.(Asp161Asn) NC_000015.10:90749748:G:A p.(Asp161Asn) NC_000015.10:90749748:G:A Identity +NM_001382394.1:c.3109A>C NP_001369323.1:p.Asn1037His NC_000002.12:38995338:T:G p.(Asn1037His) NC_000002.12:38995338:T:G p.(Asn1037His) NC_000002.12:38995338:T:G Identity +NM_000057.4:c.770C>T NP_000048.1:p.Ser257Phe NC_000015.10:90750037:C:T p.(Ser257Phe) NC_000015.10:90750037:C:T p.(Ser257Phe) NC_000015.10:90750037:C:T Identity +NM_001379277.1:c.5432C>T NP_001366206.1:p.Thr1811Ile NC_000007.14:92099759:C:T p.(Thr1811Ile) NC_000007.14:92099759:C:T p.(Thr1811Ile) NC_000007.14:92099759:C:T Identity +NM_001365276.2:c.1124G>C NP_001352205.1:p.Arg375Thr NC_000006.12:32096728:C:G p.(Arg375Thr) NC_000006.12:32096728:C:G p.(Arg375Thr) NC_000006.12:32096728:C:G Identity +NM_001365276.2:c.2921C>T NP_001352205.1:p.Thr974Ile NC_000006.12:32085976:G:A p.(Thr974Ile) NC_000006.12:32085976:G:A p.(Thr974Ile) NC_000006.12:32085976:G:A Identity +NM_001365276.2:c.8914T>C NP_001352205.1:p.Trp2972Arg NC_000006.12:32052870:A:G p.(Trp2972Arg) NC_000006.12:32052870:A:G p.(Trp2972Arg) NC_000006.12:32052870:A:G Identity +NM_001365276.2:c.9280T>G NP_001352205.1:p.Tyr3094Asp NC_000006.12:32050156:A:C p.(Tyr3094Asp) NC_000006.12:32050156:A:C p.(Tyr3094Asp) NC_000006.12:32050156:A:C Identity +NM_001365276.2:c.9500C>T NP_001352205.1:p.Pro3167Leu NC_000006.12:32049526:G:A p.(Pro3167Leu) NC_000006.12:32049526:G:A p.(Pro3167Leu) NC_000006.12:32049526:G:A Identity +NM_001282386.1:c.862C>T NP_001269315.1:p.Leu288Phe NC_000002.12:208239991:G:A p.(Leu288Phe) NC_000002.12:208239991:G:A p.(Leu288Phe) NC_000002.12:208239991:G:A Identity +NM_001282403.2:c.758G>C NP_001269332.1:p.Gly253Ala NC_000007.14:76064951:G:C p.(Gly253Ala) NC_000007.14:76064951:G:C p.(Gly253Ala) NC_000007.14:76064951:G:C Identity +NM_006073.4:c.1633A>G NP_006064.2:p.Ile545Val NC_000006.12:123273002:T:C p.(Ile545Val) NC_000006.12:123273002:T:C p.(Ile545Val) NC_000006.12:123273002:T:C Identity +NM_001346599.2:c.153C>A NP_001333528.1:p.Ser51Arg NC_000007.14:105542520:C:A p.(Ser51Arg) NC_000007.14:105542520:C:A p.(Ser51Arg) NC_000007.14:105542520:C:A Identity +NM_001081640.2:c.2624C>T NP_001075109.1:p.Ser875Phe NC_000008.11:47914057:G:A p.(Ser875Phe) NC_000008.11:47914057:G:A p.(Ser875Phe) NC_000008.11:47914057:G:A Identity +NM_007272.3:c.16G>A NP_009203.2:p.Val6Ile NC_000001.11:15438479:G:A p.(Val6Ile) NC_000001.11:15438479:G:A p.(Val6Ile) NC_000001.11:15438479:G:A Identity +NM_001377260.1:c.64G>C NP_001364189.1:p.Glu22Gln NC_000001.11:231421824:C:G p.(Glu22Gln) NC_000001.11:231421824:C:G p.(Glu22Gln) NC_000001.11:231421824:C:G Identity +NM_001406506.1:c.1217T>C NP_001393435.1:p.Val406Ala NC_000018.10:31079863:A:G p.(Val406Ala) NC_000018.10:31079863:A:G p.(Val406Ala) NC_000018.10:31079863:A:G Identity +NM_007272.3:c.412C>A NP_009203.2:p.Gln138Lys NC_000001.11:15443473:C:A p.(Gln138Lys) NC_000001.11:15443473:C:A p.(Gln138Lys) NC_000001.11:15443473:C:A Identity +NM_000059.4:c.3466T>G NP_000050.3:p.Ser1156Ala NC_000013.11:32337820:T:G p.(Ser1156Ala) NC_000013.11:32337820:T:G p.(Ser1156Ala) NC_000013.11:32337820:T:G Identity +NM_001407307.1:c.38C>G NP_001394236.1:p.Ala13Gly NC_000016.10:23635622:G:C p.(Ala13Gly) NC_000016.10:23635622:G:C p.(Ala13Gly) NC_000016.10:23635622:G:C Identity +NM_001365951.3:c.3319A>T NP_001352880.1:p.Ile1107Phe NC_000001.11:10337429:A:T p.(Ile1107Phe) NC_000001.11:10337429:A:T p.(Ile1107Phe) NC_000001.11:10337429:A:T Identity +NM_001365951.3:c.3551T>G NP_001352880.1:p.Ile1184Ser NC_000001.11:10342086:T:G p.(Ile1184Ser) NC_000001.11:10342086:T:G p.(Ile1184Ser) NC_000001.11:10342086:T:G Identity +NM_001365951.3:c.4355C>T NP_001352880.1:p.Thr1452Ile NC_000001.11:10363332:C:T p.(Thr1452Ile) NC_000001.11:10363332:C:T p.(Thr1452Ile) NC_000001.11:10363332:C:T Identity +NM_001365951.3:c.5290A>G NP_001352880.1:p.Thr1764Ala NC_000001.11:10375254:A:G p.(Thr1764Ala) NC_000001.11:10375254:A:G p.(Thr1764Ala) NC_000001.11:10375254:A:G Identity +NM_001166108.2:c.1055C>T NP_001159580.1:p.Ser352Leu NC_000004.12:168668335:C:T p.(Ser352Leu) NC_000004.12:168668335:C:T p.(Ser352Leu) NC_000004.12:168668335:C:T Identity +NM_001166108.2:c.1280A>G NP_001159580.1:p.Tyr427Cys NC_000004.12:168685503:A:G p.(Tyr427Cys) NC_000004.12:168685503:A:G p.(Tyr427Cys) NC_000004.12:168685503:A:G Identity +NM_052947.4:c.2687T>G NP_443179.3:p.Leu896Trp NC_000018.10:58537499:A:C p.(Leu896Trp) NC_000018.10:58537499:A:C p.(Leu896Trp) NC_000018.10:58537499:A:C Identity +NM_052947.4:c.3050T>A NP_443179.3:p.Val1017Asp NC_000018.10:58537136:A:T p.(Val1017Asp) NC_000018.10:58537136:A:T p.(Val1017Asp) NC_000018.10:58537136:A:T Identity +NM_001166108.2:c.573A>T NP_001159580.1:p.Arg191Ser NC_000004.12:168512076:A:T p.(Arg191Ser) NC_000004.12:168512076:A:T p.(Arg191Ser) NC_000004.12:168512076:A:T Identity +NM_052947.4:c.3998T>A NP_443179.3:p.Phe1333Tyr NC_000018.10:58536188:A:T p.(Phe1333Tyr) NC_000018.10:58536188:A:T p.(Phe1333Tyr) NC_000018.10:58536188:A:T Identity +NM_052947.4:c.5930T>C NP_443179.3:p.Leu1977Pro NC_000018.10:58516917:A:G p.(Leu1977Pro) NC_000018.10:58516917:A:G p.(Leu1977Pro) NC_000018.10:58516917:A:G Identity +NM_001321309.2:c.2009A>G NP_001308238.1:p.Tyr670Cys NC_000003.12:123700930:T:C p.(Tyr670Cys) NC_000003.12:123700930:T:C p.(Tyr670Cys) NC_000003.12:123700930:T:C Identity +NM_053046.4:c.469G>A NP_444274.1:p.Gly157Ser NC_000019.10:40801040:G:A p.(Gly157Ser) NC_000019.10:40801040:G:A p.(Gly157Ser) NC_000019.10:40801040:G:A Identity +NM_001365276.2:c.8672C>T NP_001352205.1:p.Pro2891Leu NC_000006.12:32053506:G:A p.(Pro2891Leu) NC_000006.12:32053506:G:A p.(Pro2891Leu) NC_000006.12:32053506:G:A Identity +NM_000244.4:c.1538A>T NP_000235.3:p.Gln513Leu NC_000011.10:64804643:T:A p.(Gln513Leu) NC_000011.10:64804643:T:A p.(Gln513Leu) NC_000011.10:64804643:T:A Identity +NM_001346599.2:c.2021A>G NP_001333528.1:p.Gln674Arg NC_000007.14:105567186:A:G p.(Gln674Arg) NC_000007.14:105567186:A:G p.(Gln674Arg) NC_000007.14:105567186:A:G Identity +NM_022436.3:c.353G>C NP_071881.1:p.Arg118Pro NC_000002.12:43831995:C:G p.(Arg118Pro) NC_000002.12:43831995:C:G p.(Arg118Pro) NC_000002.12:43831995:C:G Identity +NM_004304.5:c.1333A>C NP_004295.2:p.Asn445His NC_000002.12:29328430:T:G p.(Asn445His) NC_000002.12:29328430:T:G p.(Asn445His) NC_000002.12:29328430:T:G Identity +NM_004304.5:c.1880A>C NP_004295.2:p.Asn627Thr NC_000002.12:29275433:T:G p.(Asn627Thr) NC_000002.12:29275433:T:G p.(Asn627Thr) NC_000002.12:29275433:T:G Identity +NM_004304.5:c.2240G>A NP_004295.2:p.Gly747Glu NC_000002.12:29239794:C:T p.(Gly747Glu) NC_000002.12:29239794:C:T p.(Gly747Glu) NC_000002.12:29239794:C:T Identity +NM_001406559.1:c.1234T>G NP_001393488.1:p.Phe412Val NC_000010.11:86919461:T:G p.(Phe412Val) NC_000010.11:86919461:T:G p.(Phe412Val) NC_000010.11:86919461:T:G Identity +NM_000057.4:c.164C>A NP_000048.1:p.Ala55Glu NC_000015.10:90749431:C:A p.(Ala55Glu) NC_000015.10:90749431:C:A p.(Ala55Glu) NC_000015.10:90749431:C:A Identity +NM_024529.5:c.1465G>A NP_078805.3:p.Val489Ile NC_000001.11:193249776:G:A p.(Val489Ile) NC_000001.11:193249776:G:A p.(Val489Ile) NC_000001.11:193249776:G:A Identity +NM_024642.5:c.319C>T NP_078918.3:p.Leu107Phe NC_000009.12:98808016:C:T p.(Leu107Phe) NC_000009.12:98808016:C:T p.(Leu107Phe) NC_000009.12:98808016:C:T Identity +NM_001407296.1:c.841_842delinsAT NP_001394225.1:p.Asp281Ile NC_000016.10:23635643:TC:AT p.(Asp281Ile) NC_000016.10:23635643:TC:AT p.(Asp281Ile) NC_000016.10:23635643:TC:AT Identity +NM_005431.2:c.46G>C NP_005422.1:p.Ala16Pro NC_000007.14:152660775:C:G p.(Ala16Pro) NC_000007.14:152660775:C:G p.(Ala16Pro) NC_000007.14:152660775:C:G Identity +NM_005431.2:c.743A>C NP_005422.1:p.Gln248Pro NC_000007.14:152648741:T:G p.(Gln248Pro) NC_000007.14:152648741:T:G p.(Gln248Pro) NC_000007.14:152648741:T:G Identity +NM_005472.5:c.104del NP_005463.1:p.Pro35fs NC_000011.10:74457459:GG:G p.(Pro35GlnfsTer36) NC_000011.10:74457459:GG:G p.(Pro35GlnfsTer36) NC_000011.10:74457459:G: Analogous +NM_001330347.2:c.1292A>C NP_001317276.1:p.Asp431Ala NC_000011.10:94460969:T:G p.(Asp431Ala) NC_000011.10:94460969:T:G p.(Asp431Ala) NC_000011.10:94460969:T:G Identity +NM_001098623.2:c.13784G>A NP_001092093.2:p.Arg4595His NC_000001.11:228317685:G:A p.(Arg4595His) NC_000001.11:228317685:G:A p.(Arg4595His) NC_000001.11:228317685:G:A Identity +NM_001098623.2:c.13879C>A NP_001092093.2:p.Pro4627Thr NC_000001.11:228317920:C:A p.(Pro4627Thr) NC_000001.11:228317920:C:A p.(Pro4627Thr) NC_000001.11:228317920:C:A Identity +NM_198578.4:c.5176G>T NP_940980.4:p.Ala1726Ser NC_000012.12:40322039:G:T p.(Ala1726Ser) NC_000012.12:40322039:G:T p.(Ala1726Ser) NC_000012.12:40322039:G:T Identity +NM_198578.4:c.5456G>A NP_940980.4:p.Gly1819Asp NC_000012.12:40322456:G:A p.(Gly1819Asp) NC_000012.12:40322456:G:A p.(Gly1819Asp) NC_000012.12:40322456:G:A Identity +NM_001098623.2:c.2716G>A NP_001092093.2:p.Ala906Thr NC_000001.11:228224520:G:A p.(Ala906Thr) NC_000001.11:228224520:G:A p.(Ala906Thr) NC_000001.11:228224520:G:A Identity +NM_001330347.2:c.76A>C NP_001317276.1:p.Met26Leu NC_000011.10:94490909:T:G p.(Met26Leu) NC_000011.10:94490909:T:G p.(Met26Leu) NC_000011.10:94490909:T:G Identity +NM_001382394.1:c.3192T>A NP_001369323.1:p.Ser1064Arg NC_000002.12:38995255:A:T p.(Ser1064Arg) NC_000002.12:38995255:A:T p.(Ser1064Arg) NC_000002.12:38995255:A:T Identity +NM_005751.5:c.3247T>C NP_005742.4:p.Ser1083Pro NC_000007.14:92003163:T:C p.(Ser1083Pro) NC_000007.14:92003163:T:C p.(Ser1083Pro) NC_000007.14:92003163:T:C Identity +NM_199420.4:c.3330T>A NP_955452.3:p.Asn1110Lys NC_000003.12:121489600:A:T p.(Asn1110Lys) NC_000003.12:121489600:A:T p.(Asn1110Lys) NC_000003.12:121489600:A:T Identity +NM_199420.4:c.7412C>A NP_955452.3:p.Thr2471Lys NC_000003.12:121436252:G:T p.(Thr2471Lys) NC_000003.12:121436252:G:T p.(Thr2471Lys) NC_000003.12:121436252:G:T Identity +NM_199420.4:c.7693G>T NP_955452.3:p.Ala2565Ser NC_000003.12:121432383:C:A p.(Ala2565Ser) NC_000003.12:121432383:C:A p.(Ala2565Ser) NC_000003.12:121432383:C:A Identity +NM_001407454.1:c.4707del NP_001394383.1:p.Thr1570fs NC_000005.10:112840548:CC:C p.(Thr1570GlnfsTer5) NC_000005.10:112840548:CC:C p.(Thr1570GlnfsTer5) NC_000005.10:112840549:C: Analogous +NM_000238.4:c.297C>G NP_000229.1:p.Tyr99Ter NC_000007.14:150974720:G:C p.(Tyr99Ter) NC_000007.14:150974720:G:C p.(Tyr99Ter) NC_000007.14:150974720:G:C Identity +NM_000251.3:c.1966T>A NP_000242.1:p.Tyr656Asn NC_000002.12:47475230:T:A p.(Tyr656Asn) NC_000002.12:47475230:T:A p.(Tyr656Asn) NC_000002.12:47475230:T:A Identity +NM_000257.4:c.227T>A NP_000248.2:p.Val76Glu NC_000014.9:23433201:A:T p.(Val76Glu) NC_000014.9:23433201:A:T p.(Val76Glu) NC_000014.9:23433201:A:T Identity +NM_000264.5:c.4284A>T NP_000255.2:p.Glu1428Asp NC_000009.12:95446971:T:A p.(Glu1428Asp) NC_000009.12:95446971:T:A p.(Glu1428Asp) NC_000009.12:95446971:T:A Identity +NM_000302.4:c.996G>C NP_000293.2:p.Gln332His NC_000001.11:11960665:G:C p.(Gln332His) NC_000001.11:11960665:G:C p.(Gln332His) NC_000001.11:11960665:G:C Identity +NM_000384.3:c.2035G>C NP_000375.3:p.Ala679Pro NC_000002.12:21027859:C:G p.(Ala679Pro) NC_000002.12:21027859:C:G p.(Ala679Pro) NC_000002.12:21027859:C:G Identity +NM_000388.4:c.84G>C NP_000379.3:p.Lys28Asn NC_000003.12:122254272:G:C p.(Lys28Asn) NC_000003.12:122254272:G:C p.(Lys28Asn) NC_000003.12:122254272:G:C Identity +NM_001347827.2:c.1637T>C NP_001334756.1:p.Val546Ala NC_000004.12:54274608:T:C p.(Val546Ala) NC_000004.12:54274608:T:C p.(Val546Ala) NC_000004.12:54274608:T:C Identity +NM_006231.4:c.2365G>A NP_006222.2:p.Ala789Thr NC_000012.12:132665404:C:T p.(Ala789Thr) NC_000012.12:132665404:C:T p.(Ala789Thr) NC_000012.12:132665404:C:T Identity +NM_000465.4:c.73G>T NP_000456.2:p.Ala25Ser NC_000002.12:214809496:C:A p.(Ala25Ser) NC_000002.12:214809496:C:A p.(Ala25Ser) NC_000002.12:214809496:C:A Identity +NM_000492.4:c.2170A>G NP_000483.3:p.Ile724Val NC_000007.14:117592336:A:G p.(Ile724Val) NC_000007.14:117592336:A:G p.(Ile724Val) NC_000007.14:117592336:A:G Identity +NM_000492.4:c.2654G>A NP_000483.3:p.Gly885Glu NC_000007.14:117602859:G:A p.(Gly885Glu) NC_000007.14:117602859:G:A p.(Gly885Glu) NC_000007.14:117602859:G:A Identity +NM_052947.4:c.5404G>A NP_443179.3:p.Gly1802Arg NC_000018.10:58529187:C:T p.(Gly1802Arg) NC_000018.10:58529187:C:T p.(Gly1802Arg) NC_000018.10:58529187:C:T Identity +NM_000039.3:c.562G>A NP_000030.1:p.Ala188Thr NC_000011.10:116836049:C:T p.(Ala188Thr) NC_000011.10:116836049:C:T p.(Ala188Thr) NC_000011.10:116836049:C:T Identity +NM_000548.5:c.1373G>C NP_000539.2:p.Arg458Pro NC_000016.10:2062982:G:C p.(Arg458Pro) NC_000016.10:2062982:G:C p.(Arg458Pro) NC_000016.10:2062982:G:C Identity +NM_001195573.1:c.343del NP_001182502.1:p.Thr115fs NC_000014.9:95131603:TT:T p.(Thr115LeufsTer13) NC_000014.9:95131603:TT:T p.(Thr115LeufsTer13) NC_000014.9:95131603:T: Analogous +NM_000548.5:c.642C>G NP_000539.2:p.Asp214Glu NC_000016.10:2056237:C:G p.(Asp214Glu) NC_000016.10:2056237:C:G p.(Asp214Glu) NC_000016.10:2056237:C:G Identity +NM_000719.7:c.4765A>G NP_000710.5:p.Ile1589Val NC_000012.12:2674578:A:G p.(Ile1589Val) NC_000012.12:2674578:A:G p.(Ile1589Val) NC_000012.12:2674578:A:G Identity +NM_000890.5:c.148C>A NP_000881.3:p.Arg50Ser NC_000011.10:128911420:C:A p.(Arg50Ser) NC_000011.10:128911420:C:A p.(Arg50Ser) NC_000011.10:128911420:C:A Identity +NM_001040108.2:c.1484G>A NP_001035197.1:p.Ser495Asn NC_000014.9:75048171:C:T p.(Ser495Asn) NC_000014.9:75048171:C:T p.(Ser495Asn) NC_000014.9:75048171:C:T Identity +NM_001195573.1:c.724G>T NP_001182502.1:p.Val242Phe NC_000014.9:95129481:C:A p.(Val242Phe) NC_000014.9:95129481:C:A p.(Val242Phe) NC_000014.9:95129481:C:A Identity +NM_198578.4:c.1054G>T NP_940980.4:p.Ala352Ser NC_000012.12:40251326:G:T p.(Ala352Ser) NC_000012.12:40251326:G:T p.(Ala352Ser) NC_000012.12:40251326:G:T Identity +NM_198578.4:c.7240G>T NP_940980.4:p.Val2414Leu NC_000012.12:40364899:G:T p.(Val2414Leu) NC_000012.12:40364899:G:T p.(Val2414Leu) NC_000012.12:40364899:G:T Identity +NM_199420.4:c.3400G>A NP_955452.3:p.Val1134Met NC_000003.12:121489530:C:T p.(Val1134Met) NC_000003.12:121489530:C:T p.(Val1134Met) NC_000003.12:121489530:C:T Identity +NM_199420.4:c.4454T>G NP_955452.3:p.Met1485Arg NC_000003.12:121488476:A:C p.(Met1485Arg) NC_000003.12:121488476:A:C p.(Met1485Arg) NC_000003.12:121488476:A:C Identity +NM_001278617.2:c.34G>A NP_001265546.1:p.Glu12Lys NC_000002.12:110674357:C:T p.(Glu12Lys) NC_000002.12:110674357:C:T p.(Glu12Lys) NC_000002.12:110674357:C:T Identity +NM_001367624.2:c.11806T>C NP_001354553.1:p.Phe3936Leu NC_000016.10:88439275:T:C p.(Phe3936Leu) NC_000016.10:88439275:T:C p.(Phe3936Leu) NC_000016.10:88439275:T:C Identity +NM_001367624.2:c.3527G>A NP_001354553.1:p.Arg1176Gln NC_000016.10:88430996:G:A p.(Arg1176Gln) NC_000016.10:88430996:G:A p.(Arg1176Gln) NC_000016.10:88430996:G:A Identity +NM_199420.4:c.5346C>A NP_955452.3:p.Asn1782Lys NC_000003.12:121487584:G:T p.(Asn1782Lys) NC_000003.12:121487584:G:T p.(Asn1782Lys) NC_000003.12:121487584:G:T Identity +NM_199420.4:c.6709A>T NP_955452.3:p.Thr2237Ser NC_000003.12:121471998:T:A p.(Thr2237Ser) NC_000003.12:121471998:T:A p.(Thr2237Ser) NC_000003.12:121471998:T:A Identity +NM_199420.4:c.7027T>C NP_955452.3:p.Ser2343Pro NC_000003.12:121460174:A:G p.(Ser2343Pro) NC_000003.12:121460174:A:G p.(Ser2343Pro) NC_000003.12:121460174:A:G Identity +NM_000075.4:c.868C>G NP_000066.1:p.Leu290Val NC_000012.12:57748568:G:C p.(Leu290Val) NC_000012.12:57748568:G:C p.(Leu290Val) NC_000012.12:57748568:G:C Identity +NM_000245.4:c.1610A>C NP_000236.2:p.Gln537Pro NC_000007.14:116740933:A:C p.(Gln537Pro) NC_000007.14:116740933:A:C p.(Gln537Pro) NC_000007.14:116740933:A:C Identity +NM_000222.3:c.1388A>C NP_000213.1:p.Asn463Thr NC_000004.12:54725897:A:C p.(Asn463Thr) NC_000004.12:54725897:A:C p.(Asn463Thr) NC_000004.12:54725897:A:C Identity +NM_000229.2:c.434T>C NP_000220.1:p.Leu145Pro NC_000016.10:67942759:A:G p.(Leu145Pro) NC_000016.10:67942759:A:G p.(Leu145Pro) NC_000016.10:67942759:A:G Identity +NM_000229.2:c.505G>A NP_000220.1:p.Asp169Asn NC_000016.10:67942688:C:T p.(Asp169Asn) NC_000016.10:67942688:C:T p.(Asp169Asn) NC_000016.10:67942688:C:T Identity +NM_006231.4:c.5768G>A NP_006222.2:p.Gly1923Asp NC_000012.12:132635934:C:T p.(Gly1923Asp) NC_000012.12:132635934:C:T p.(Gly1923Asp) NC_000012.12:132635934:C:T Identity +NM_006231.4:c.5813A>T NP_006222.2:p.Gln1938Leu NC_000012.12:132634376:T:A p.(Gln1938Leu) NC_000012.12:132634376:T:A p.(Gln1938Leu) NC_000012.12:132634376:T:A Identity +NM_001293306.2:c.5501C>T NP_001280235.2:p.Ser1834Leu NC_000003.12:38697715:G:A p.(Ser1834Leu) NC_000003.12:38697715:G:A p.(Ser1834Leu) NC_000003.12:38697715:G:A Identity +NM_001081640.2:c.2212C>T NP_001075109.1:p.His738Tyr NC_000008.11:47927817:G:A p.(His738Tyr) NC_000008.11:47927817:G:A p.(His738Tyr) NC_000008.11:47927817:G:A Identity +NM_001081640.2:c.3202C>T NP_001075109.1:p.Leu1068Phe NC_000008.11:47902635:G:A p.(Leu1068Phe) NC_000008.11:47902635:G:A p.(Leu1068Phe) NC_000008.11:47902635:G:A Identity +NM_001161482.1:c.950G>A NP_001154954.1:p.Arg317Lys NC_000010.11:242138:G:A ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001161482.1, alt_ac=NM_001161482.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001161482.1 not found +NM_003718.5:c.1987A>T NP_003709.3:p.Lys663Ter NC_000007.14:39997608:A:T p.(Lys663Ter) NC_000007.14:39997608:A:T p.(Lys663Ter) NC_000007.14:39997608:A:T Identity +NM_001171653.2:c.2658G>A NP_001165124.1:p.Met886Ile NC_000002.12:144398456:C:T p.(Met886Ile) NC_000002.12:144398456:C:T p.(Met886Ile) NC_000002.12:144398456:C:T Identity +NM_001410772.1:c.1190C>T NP_001397701.1:p.Ala397Val NC_000003.12:52404458:G:A p.(Ala397Val) NC_000003.12:52404458:G:A p.(Ala397Val) NC_000003.12:52404458:G:A Identity +NM_005120.3:c.5776T>C NP_005111.2:p.Ser1926Pro NC_000023.11:71137584:T:C p.(Ser1926Pro) NC_000023.11:71137584:T:C p.(Ser1926Pro) NC_000023.11:71137584:T:C Identity +NM_000057.4:c.4141T>C NP_000048.1:p.Ser1381Pro NC_000015.10:90815165:T:C p.(Ser1381Pro) NC_000015.10:90815165:T:C p.(Ser1381Pro) NC_000015.10:90815165:T:C Identity +NM_001330347.2:c.1532A>T NP_001317276.1:p.Asn511Ile NC_000011.10:94456306:T:A p.(Asn511Ile) NC_000011.10:94456306:T:A p.(Asn511Ile) NC_000011.10:94456306:T:A Identity +NM_005751.5:c.2465T>C NP_005742.4:p.Ile822Thr NC_000007.14:92002381:T:C p.(Ile822Thr) NC_000007.14:92002381:T:C p.(Ile822Thr) NC_000007.14:92002381:T:C Identity +NM_001282404.2:c.138A>T NP_001269333.1:p.Glu46Asp NC_000007.14:76060401:A:T p.(Glu46Asp) NC_000007.14:76060401:A:T p.(Glu46Asp) NC_000007.14:76060401:A:T Identity +NM_000256.3:c.1338G>C NP_000247.2:p.Glu446Asp NC_000011.10:47343033:C:G p.(Glu446Asp) NC_000011.10:47343033:C:G p.(Glu446Asp) NC_000011.10:47343033:C:G Identity +NM_000257.4:c.2951G>C NP_000248.2:p.Gly984Ala NC_000014.9:23423694:C:G p.(Gly984Ala) NC_000014.9:23423694:C:G p.(Gly984Ala) NC_000014.9:23423694:C:G Identity +NM_000264.5:c.2144T>A NP_000255.2:p.Phe715Tyr NC_000009.12:95468856:A:T p.(Phe715Tyr) NC_000009.12:95468856:A:T p.(Phe715Tyr) NC_000009.12:95468856:A:T Identity +NM_206933.4:c.7526G>T NP_996816.3:p.Arg2509Leu NC_000001.11:215900142:C:A p.(Arg2509Leu) NC_000001.11:215900142:C:A p.(Arg2509Leu) NC_000001.11:215900142:C:A Identity +NM_000492.4:c.1736A>C NP_000483.3:p.Asp579Ala NC_000007.14:117590408:A:C p.(Asp579Ala) NC_000007.14:117590408:A:C p.(Asp579Ala) NC_000007.14:117590408:A:C Identity +NM_000321.3:c.2410A>G NP_000312.2:p.Ile804Val NC_000013.11:48465288:A:G p.(Ile804Val) NC_000013.11:48465288:A:G p.(Ile804Val) NC_000013.11:48465288:A:G Identity +NM_000038.6:c.1110G>T NP_000029.2:p.Leu370Phe NC_000005.10:112819141:G:T p.(Leu370Phe) NC_000005.10:112819141:G:T p.(Leu370Phe) NC_000005.10:112819141:G:T Identity +NM_000368.5:c.3401A>G NP_000359.1:p.Asn1134Ser NC_000009.12:132896328:T:C p.(Asn1134Ser) NC_000009.12:132896328:T:C p.(Asn1134Ser) NC_000009.12:132896328:T:C Identity +NM_000038.6:c.7517A>C NP_000029.2:p.Lys2506Thr NC_000005.10:112843110:A:C p.(Lys2506Thr) NC_000005.10:112843110:A:C p.(Lys2506Thr) NC_000005.10:112843110:A:C Identity +NM_001244580.2:c.10831C>T NP_001231509.1:p.Pro3611Ser NC_000007.14:99008495:C:T p.(Pro3611Ser) NC_000007.14:99008495:C:T p.(Pro3611Ser) NC_000007.14:99008495:C:T Identity +NM_000384.3:c.6365C>T NP_000375.3:p.Ala2122Val NC_000002.12:21010502:G:A p.(Ala2122Val) NC_000002.12:21010502:G:A p.(Ala2122Val) NC_000002.12:21010502:G:A Identity +NM_000388.4:c.2372C>T NP_000379.3:p.Ala791Val NC_000003.12:122284325:C:T p.(Ala791Val) NC_000003.12:122284325:C:T p.(Ala791Val) NC_000003.12:122284325:C:T Identity +LRG_130t1:c.7921A>G LRG_130p1:p.Lys2641Glu NC_000005.10:112843514:A:G ERR:Data provider error: ValueError: Transcript LRG_130t1 not found ERR:Data provider error: ValueError: Transcript LRG_130t1 not found ERR:AlignmentMapper(tx_ac=LRG_130t1, alt_ac=LRG_130t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_130t1, alt_ac=LRG_130t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_130t1 not found +NM_000400.4:c.1750T>C NP_000391.1:p.Tyr584His NC_000019.10:45353249:A:G p.(Tyr584His) NC_000019.10:45353249:A:G p.(Tyr584His) NC_000019.10:45353249:A:G Identity +NM_020715.3:c.2195G>A NP_065766.1:p.Arg732Gln NC_000014.9:67575847:G:A p.(Arg732Gln) NC_000014.9:67575847:G:A p.(Arg732Gln) NC_000014.9:67575847:G:A Identity +NM_001257291.2:c.1837A>T NP_001244220.1:p.Ile613Phe NC_000023.11:46613380:T:A p.(Ile613Phe) NC_000023.11:46613380:T:A p.(Ile613Phe) NC_000023.11:46613380:T:A Identity +NM_001080114.2:c.1015C>T NP_001073583.1:p.Pro339Ser NC_000010.11:86716439:C:T p.(Pro339Ser) NC_000010.11:86716439:C:T p.(Pro339Ser) NC_000010.11:86716439:C:T Identity +NM_007272.3:c.695T>C NP_009203.2:p.Phe232Ser NC_000001.11:15445651:T:C p.(Phe232Ser) NC_000001.11:15445651:T:C p.(Phe232Ser) NC_000001.11:15445651:T:C Identity +NM_003718.5:c.848C>T NP_003709.3:p.Thr283Ile NC_000007.14:39951488:C:T p.(Thr283Ile) NC_000007.14:39951488:C:T p.(Thr283Ile) NC_000007.14:39951488:C:T Identity +NM_000109.4:c.5236G>A NP_000100.3:p.Glu1746Lys NC_000023.11:32362852:C:T p.(Glu1746Lys) NC_000023.11:32362852:C:T p.(Glu1746Lys) NC_000023.11:32362852:C:T Identity +NM_000061.3:c.451C>T NP_000052.1:p.Gln151Ter NC_000023.11:101362629:G:A p.(Gln151Ter) NC_000023.11:101362629:G:A p.(Gln151Ter) NC_000023.11:101362629:G:A Identity +NM_000059.4:c.308T>G NP_000050.3:p.Leu103Ter NC_000013.11:32319316:T:G p.(Leu103Ter) NC_000013.11:32319316:T:G p.(Leu103Ter) NC_000013.11:32319316:T:G Identity +NM_001127384.3:c.2428G>A NP_001120856.1:p.Ala810Thr NC_000010.11:65920589:C:T p.(Ala810Thr) NC_000010.11:65920589:C:T p.(Ala810Thr) NC_000010.11:65920589:C:T Identity +NM_014391.3:c.800T>C NP_055206.2:p.Met267Thr NC_000010.11:90915591:A:G p.(Met267Thr) NC_000010.11:90915591:A:G p.(Met267Thr) NC_000010.11:90915591:A:G Identity +NM_005445.4:c.2567G>C NP_005436.1:p.Gly856Ala NC_000010.11:110601052:G:C p.(Gly856Ala) NC_000010.11:110601052:G:C p.(Gly856Ala) NC_000010.11:110601052:G:C Identity +NM_002226.5:c.1021G>T NP_002217.3:p.Gly341Cys NC_000014.9:105151955:C:A p.(Gly341Cys) NC_000014.9:105151955:C:A p.(Gly341Cys) NC_000014.9:105151955:C:A Identity +NM_000296.4:c.9038C>T NP_000287.4:p.Ser3013Phe NC_000016.10:2102543:G:A p.(Ser3013Phe) NC_000016.10:2102543:G:A p.(Ser3013Phe) NC_000016.10:2102543:G:A Identity +NM_175881.5:c.175A>C NP_787077.1:p.Ile59Leu NC_000015.10:75725163:A:C p.(Ile59Leu) NC_000015.10:75725163:A:C p.(Ile59Leu) NC_000015.10:75725163:A:C Identity +NM_014157.4:c.370C>T NP_054876.2:p.Arg124Cys NC_000016.10:58254138:C:T p.(Arg124Cys) NC_000016.10:58254138:C:T p.(Arg124Cys) NC_000016.10:58254138:C:T Identity +NM_006231.4:c.5459A>C NP_006222.2:p.His1820Pro NC_000012.12:132639217:T:G p.(His1820Pro) NC_000012.12:132639217:T:G p.(His1820Pro) NC_000012.12:132639217:T:G Identity +NM_001042537.2:c.440del NP_001036002.1:p.Ser147fs NC_000023.11:135994899:G: p.(Ser147MetfsTer9) NC_000023.11:135994899:G: p.(Ser147MetfsTer9) NC_000023.11:135994899:G: Analogous +NM_001293306.2:c.2332_2333inv NP_001280235.2:p.Lys778Leu NC_000003.12:38728848:TT:AA p.(Lys778Leu) NC_000003.12:38728848:TT:AA p.(Lys778Leu) ERR:SPDI Identity +NM_032042.6:c.78T>A NP_114431.2:p.Asp26Glu NC_000005.10:94074673:A:T p.(Asp26Glu) NC_000005.10:94074673:A:T p.(Asp26Glu) NC_000005.10:94074673:A:T Identity +NM_001100621.3:c.761G>A NP_001094091.2:p.Gly254Asp NC_000017.11:73236242:G:A p.(Gly254Asp) NC_000017.11:73236242:G:A p.(Gly254Asp) NC_000017.11:73236242:G:A Identity +NM_032444.4:c.838G>T NP_115820.2:p.Gly280Ter NC_000016.10:3602229:C:A p.(Gly280Ter) NC_000016.10:3602229:C:A p.(Gly280Ter) NC_000016.10:3602229:C:A Identity +NM_001081640.2:c.4968T>G NP_001075109.1:p.Asp1656Glu NC_000008.11:47881514:A:C p.(Asp1656Glu) NC_000008.11:47881514:A:C p.(Asp1656Glu) NC_000008.11:47881514:A:C Identity +NM_007272.3:c.549C>A NP_009203.2:p.His183Gln NC_000001.11:15444660:C:A p.(His183Gln) NC_000001.11:15444660:C:A p.(His183Gln) NC_000001.11:15444660:C:A Identity +NM_005862.3:c.1706A>T NP_005853.2:p.Glu569Val NC_000003.12:136422988:T:A p.(Glu569Val) NC_000003.12:136422988:T:A p.(Glu569Val) NC_000003.12:136422988:T:A Identity +NM_007118.4:c.8161C>T NP_009049.2:p.Pro2721Ser NC_000005.10:14498201:C:T p.(Pro2721Ser) NC_000005.10:14498201:C:T p.(Pro2721Ser) NC_000005.10:14498201:C:T Identity +NM_000487.6:c.809T>C NP_000478.3:p.Leu270Pro NC_000022.11:50626635:A:G p.(Leu270Pro) NC_000022.11:50626635:A:G p.(Leu270Pro) NC_000022.11:50626635:A:G Identity +NM_001291593.2:c.2420T>C NP_001278522.1:p.Leu807Pro NC_000001.11:5864374:A:G p.(Leu807Pro) NC_000001.11:5864374:A:G p.(Leu807Pro) NC_000001.11:5864374:A:G Identity +NM_001363850.1:c.538G>A NP_001350779.1:p.Val180Met NC_000016.10:89524166:G:A p.(Val180Met) NC_000016.10:89524166:G:A p.(Val180Met) NC_000016.10:89524166:G:A Identity +NM_001094.5:c.823C>T NP_001085.2:p.Gln275Ter NC_000017.11:33088873:G:A p.(Gln275Ter) NC_000017.11:33088873:G:A p.(Gln275Ter) NC_000017.11:33088873:G:A Identity +NM_001191323.2:c.92G>A NP_001178252.1:p.Gly31Asp NC_000015.10:32730781:G:A p.(Gly31Asp) NC_000015.10:32730781:G:A p.(Gly31Asp) NC_000015.10:32730781:G:A Identity +NM_001365951.3:c.4960A>G NP_001352880.1:p.Asn1654Asp NC_000001.11:10374328:A:G p.(Asn1654Asp) NC_000001.11:10374328:A:G p.(Asn1654Asp) NC_000001.11:10374328:A:G Identity +NM_001365951.3:c.890A>C NP_001352880.1:p.Lys297Thr NC_000001.11:10275434:A:C p.(Lys297Thr) NC_000001.11:10275434:A:C p.(Lys297Thr) NC_000001.11:10275434:A:C Identity +NM_000400.4:c.536A>G NP_000391.1:p.Asp179Gly NC_000019.10:45364895:T:C p.(Asp179Gly) NC_000019.10:45364895:T:C p.(Asp179Gly) NC_000019.10:45364895:T:C Identity +NM_017946.4:c.524T>A NP_060416.1:p.Val175Glu NC_000007.14:30014846:A:T p.(Val175Glu) NC_000007.14:30014846:A:T p.(Val175Glu) NC_000007.14:30014846:A:T Identity +NM_000551.4:c.53C>G NP_000542.1:p.Ala18Gly NC_000003.12:10141899:C:G p.(Ala18Gly) NC_000003.12:10141899:C:G p.(Ala18Gly) NC_000003.12:10141899:C:G Identity +NM_018975.4:c.917T>C NP_061848.2:p.Val306Ala NC_000016.10:75656327:T:C p.(Val306Ala) NC_000016.10:75656327:T:C p.(Val306Ala) NC_000016.10:75656327:T:C Identity +NM_001365276.2:c.4354G>C NP_001352205.1:p.Val1452Leu NC_000006.12:32079053:C:G p.(Val1452Leu) NC_000006.12:32079053:C:G p.(Val1452Leu) NC_000006.12:32079053:C:G Identity +NM_020533.3:c.875A>G NP_065394.1:p.His292Arg NC_000019.10:7528254:A:G p.(His292Arg) NC_000019.10:7528254:A:G p.(His292Arg) NC_000019.10:7528254:A:G Identity +NM_001346599.2:c.2102T>G NP_001333528.1:p.Ile701Ser NC_000007.14:105567267:T:G p.(Ile701Ser) NC_000007.14:105567267:T:G p.(Ile701Ser) NC_000007.14:105567267:T:G Identity +NM_001357321.2:c.677A>T NP_001344250.1:p.Gln226Leu NC_000002.12:43852468:A:T p.(Gln226Leu) NC_000002.12:43852468:A:T p.(Gln226Leu) NC_000002.12:43852468:A:T Identity +NM_024642.5:c.158C>G NP_078918.3:p.Pro53Arg NC_000009.12:98807855:C:G p.(Pro53Arg) NC_000009.12:98807855:C:G p.(Pro53Arg) NC_000009.12:98807855:C:G Identity +NM_001098623.2:c.15973C>T NP_001092093.2:p.Arg5325Trp NC_000001.11:228333698:C:T p.(Arg5325Trp) NC_000001.11:228333698:C:T p.(Arg5325Trp) NC_000001.11:228333698:C:T Identity +NM_001040108.2:c.1802T>A NP_001035197.1:p.Val601Asp NC_000014.9:75047853:A:T p.(Val601Asp) NC_000014.9:75047853:A:T p.(Val601Asp) NC_000014.9:75047853:A:T Identity +NM_001367624.2:c.9893A>G NP_001354553.1:p.Asp3298Gly NC_000016.10:88437362:A:G p.(Asp3298Gly) NC_000016.10:88437362:A:G p.(Asp3298Gly) NC_000016.10:88437362:A:G Identity +NM_000245.4:c.1274A>T NP_000236.2:p.Gln425Leu NC_000007.14:116731740:A:T p.(Gln425Leu) NC_000007.14:116731740:A:T p.(Gln425Leu) NC_000007.14:116731740:A:T Identity +NM_152594.3:c.374A>G NP_689807.1:p.Gln125Arg NC_000015.10:38322406:A:G p.(Gln125Arg) NC_000015.10:38322406:A:G p.(Gln125Arg) NC_000015.10:38322406:A:G Identity +NM_001195573.1:c.2962C>A NP_001182502.1:p.Leu988Met NC_000014.9:95106065:G:T p.(Leu988Met) NC_000014.9:95106065:G:T p.(Leu988Met) NC_000014.9:95106065:G:T Identity +NM_001378454.1:c.5141A>G NP_001365383.1:p.Tyr1714Cys NC_000002.12:73451667:A:G p.(Tyr1714Cys) NC_000002.12:73451667:A:G p.(Tyr1714Cys) NC_000002.12:73451667:A:G Identity +NM_001378454.1:c.8801A>G NP_001365383.1:p.Lys2934Arg NC_000002.12:73490759:A:G p.(Lys2934Arg) NC_000002.12:73490759:A:G p.(Lys2934Arg) NC_000002.12:73490759:A:G Identity +NM_001166108.2:c.1130A>T NP_001159580.1:p.Lys377Ile NC_000004.12:168681373:A:T p.(Lys377Ile) NC_000004.12:168681373:A:T p.(Lys377Ile) NC_000004.12:168681373:A:T Identity +NM_001166108.2:c.1655G>A NP_001159580.1:p.Gly552Glu NC_000004.12:168711613:G:A p.(Gly552Glu) NC_000004.12:168711613:G:A p.(Gly552Glu) NC_000004.12:168711613:G:A Identity +NM_020433.5:c.326C>T NP_065166.2:p.Thr109Ile NC_000020.11:44186379:G:A p.(Thr109Ile) NC_000020.11:44186379:G:A p.(Thr109Ile) NC_000020.11:44186379:G:A Identity +NM_198578.4:c.183T>A NP_940980.4:p.His61Gln NC_000012.12:40225585:T:A p.(His61Gln) NC_000012.12:40225585:T:A p.(His61Gln) NC_000012.12:40225585:T:A Identity +NM_024529.5:c.923A>T NP_078805.3:p.Lys308Ile NC_000001.11:193152394:A:T p.(Lys308Ile) NC_000001.11:193152394:A:T p.(Lys308Ile) NC_000001.11:193152394:A:T Identity +NM_024642.5:c.514A>T NP_078918.3:p.Ile172Phe NC_000009.12:98823397:A:T p.(Ile172Phe) NC_000009.12:98823397:A:T p.(Ile172Phe) NC_000009.12:98823397:A:T Identity +NM_001098623.2:c.10800G>C NP_001092093.2:p.Met3600Ile NC_000001.11:228292718:G:C p.(Met3600Ile) NC_000001.11:228292718:G:C p.(Met3600Ile) NC_000001.11:228292718:G:C Identity +NM_001098623.2:c.12692C>T NP_001092093.2:p.Ser4231Phe NC_000001.11:228308335:C:T p.(Ser4231Phe) NC_000001.11:228308335:C:T p.(Ser4231Phe) NC_000001.11:228308335:C:T Identity +NM_198578.4:c.7052A>G NP_940980.4:p.Asp2351Gly NC_000012.12:40363424:A:G p.(Asp2351Gly) NC_000012.12:40363424:A:G p.(Asp2351Gly) NC_000012.12:40363424:A:G Identity +NM_198578.4:c.7508A>T NP_940980.4:p.Glu2503Val NC_000012.12:40367688:A:T p.(Glu2503Val) NC_000012.12:40367688:A:T p.(Glu2503Val) NC_000012.12:40367688:A:T Identity +NM_052947.4:c.4163T>C NP_443179.3:p.Phe1388Ser NC_000018.10:58536023:A:G p.(Phe1388Ser) NC_000018.10:58536023:A:G p.(Phe1388Ser) NC_000018.10:58536023:A:G Identity +NM_199420.4:c.7559G>C NP_955452.3:p.Arg2520Thr NC_000003.12:121433017:C:G p.(Arg2520Thr) NC_000003.12:121433017:C:G p.(Arg2520Thr) NC_000003.12:121433017:C:G Identity +NM_052947.4:c.5584A>G NP_443179.3:p.Asn1862Asp NC_000018.10:58523979:T:C p.(Asn1862Asp) NC_000018.10:58523979:T:C p.(Asn1862Asp) NC_000018.10:58523979:T:C Identity +NM_053046.4:c.480G>T NP_444274.1:p.Glu160Asp NC_000019.10:40801051:G:T p.(Glu160Asp) NC_000019.10:40801051:G:T p.(Glu160Asp) NC_000019.10:40801051:G:T Identity +NM_000244.4:c.730A>T NP_000235.3:p.Met244Leu NC_000011.10:64807619:T:A p.(Met244Leu) NC_000011.10:64807619:T:A p.(Met244Leu) NC_000011.10:64807619:T:A Identity +NM_001353229.2:c.693T>G NP_001340158.1:p.Phe231Leu NC_000017.11:17222640:A:C p.(Phe231Leu) NC_000017.11:17222640:A:C p.(Phe231Leu) NC_000017.11:17222640:A:C Identity +NM_001195573.1:c.2662A>G NP_001182502.1:p.Ser888Gly NC_000014.9:95107749:T:C p.(Ser888Gly) NC_000014.9:95107749:T:C p.(Ser888Gly) NC_000014.9:95107749:T:C Identity +NM_001195573.1:c.3358A>C NP_001182502.1:p.Asn1120His NC_000014.9:95104037:T:G p.(Asn1120His) NC_000014.9:95104037:T:G p.(Asn1120His) NC_000014.9:95104037:T:G Identity +NM_001195573.1:c.3361del NP_001182502.1:p.Tyr1121fs NC_000014.9:95104034:AA:A p.(Tyr1121ThrfsTer23) NC_000014.9:95104034:AA:A p.(Tyr1121ThrfsTer23) NC_000014.9:95104034:A: Analogous +NM_001195573.1:c.5484G>A NP_001182502.1:p.Trp1828Ter NC_000014.9:95090619:C:T p.(Trp1828Ter) NC_000014.9:95090619:C:T p.(Trp1828Ter) NC_000014.9:95090619:C:T Identity +NM_000038.6:c.3418C>T NP_000029.2:p.Pro1140Ser NC_000005.10:112839011:C:T p.(Pro1140Ser) NC_000005.10:112839011:C:T p.(Pro1140Ser) NC_000005.10:112839011:C:T Identity +NM_000179.3:c.1011G>C NP_000170.1:p.Leu337Phe NC_000002.12:47798993:G:C p.(Leu337Phe) NC_000002.12:47798993:G:C p.(Leu337Phe) NC_000002.12:47798993:G:C Identity +NM_000179.3:c.2724A>C NP_000170.1:p.Glu908Asp NC_000002.12:47800706:A:C p.(Glu908Asp) NC_000002.12:47800706:A:C p.(Glu908Asp) NC_000002.12:47800706:A:C Identity +NM_000038.6:c.4772C>T NP_000029.2:p.Ala1591Val NC_000005.10:112840365:C:T p.(Ala1591Val) NC_000005.10:112840365:C:T p.(Ala1591Val) NC_000005.10:112840365:C:T Identity +NM_000192.3:c.1018A>G NP_000183.2:p.Lys340Glu NC_000012.12:114356070:T:C p.(Lys340Glu) NC_000012.12:114356070:T:C p.(Lys340Glu) NC_000012.12:114356070:T:C Identity +NM_000251.3:c.1209T>G NP_000242.1:p.Asp403Glu NC_000002.12:47429873:T:G p.(Asp403Glu) NC_000002.12:47429873:T:G p.(Asp403Glu) NC_000002.12:47429873:T:G Identity +NM_000258.3:c.512A>C NP_000249.1:p.Lys171Thr NC_000003.12:46858430:T:G p.(Lys171Thr) NC_000003.12:46858430:T:G p.(Lys171Thr) NC_000003.12:46858430:T:G Identity +NM_000368.5:c.2746C>G NP_000359.1:p.Leu916Val NC_000009.12:132897489:G:C p.(Leu916Val) NC_000009.12:132897489:G:C p.(Leu916Val) NC_000009.12:132897489:G:C Identity +NM_000384.3:c.13105G>C NP_000375.3:p.Glu4369Gln NC_000002.12:21002316:C:G p.(Glu4369Gln) NC_000002.12:21002316:C:G p.(Glu4369Gln) NC_000002.12:21002316:C:G Identity +NM_000400.4:c.982C>G NP_000391.1:p.His328Asp NC_000019.10:45363878:G:C p.(His328Asp) NC_000019.10:45363878:G:C p.(His328Asp) NC_000019.10:45363878:G:C Identity +NM_000465.4:c.1187C>T NP_000456.2:p.Pro396Leu NC_000002.12:214780686:G:A p.(Pro396Leu) NC_000002.12:214780686:G:A p.(Pro396Leu) NC_000002.12:214780686:G:A Identity +NM_000038.6:c.918T>A NP_000029.2:p.Ser306Arg NC_000005.10:112815577:T:A p.(Ser306Arg) NC_000005.10:112815577:T:A p.(Ser306Arg) NC_000005.10:112815577:T:A Identity +NM_000492.4:c.3340G>A NP_000483.3:p.Val1114Ile NC_000007.14:117611780:G:A p.(Val1114Ile) NC_000007.14:117611780:G:A p.(Val1114Ile) NC_000007.14:117611780:G:A Identity +NM_198578.4:c.4954C>A NP_940980.4:p.Leu1652Ile NC_000012.12:40320113:C:A p.(Leu1652Ile) NC_000012.12:40320113:C:A p.(Leu1652Ile) NC_000012.12:40320113:C:A Identity +NM_199420.4:c.1279A>G NP_955452.3:p.Ile427Val NC_000003.12:121520059:T:C p.(Ile427Val) NC_000003.12:121520059:T:C p.(Ile427Val) NC_000003.12:121520059:T:C Identity +NM_199420.4:c.5366G>A NP_955452.3:p.Ser1789Asn NC_000003.12:121487564:C:T p.(Ser1789Asn) NC_000003.12:121487564:C:T p.(Ser1789Asn) NC_000003.12:121487564:C:T Identity +NM_199420.4:c.5370A>C NP_955452.3:p.Arg1790Ser NC_000003.12:121487560:T:G p.(Arg1790Ser) NC_000003.12:121487560:T:G p.(Arg1790Ser) NC_000003.12:121487560:T:G Identity +NM_199420.4:c.6515G>A NP_955452.3:p.Arg2172Lys NC_000003.12:121473377:C:T p.(Arg2172Lys) NC_000003.12:121473377:C:T p.(Arg2172Lys) NC_000003.12:121473377:C:T Identity +NM_199420.4:c.7499A>C NP_955452.3:p.Lys2500Thr NC_000003.12:121436165:T:G p.(Lys2500Thr) NC_000003.12:121436165:T:G p.(Lys2500Thr) NC_000003.12:121436165:T:G Identity +NM_199420.4:c.79A>G NP_955452.3:p.Ser27Gly NC_000003.12:121545798:T:C p.(Ser27Gly) NC_000003.12:121545798:T:C p.(Ser27Gly) NC_000003.12:121545798:T:C Identity +NM_000117.3:c.415C>T NP_000108.1:p.Leu139Phe NC_000023.11:154380767:C:T p.(Leu139Phe) NC_000023.11:154380767:C:T p.(Leu139Phe) NC_000023.11:154380767:C:T Identity +NM_000506.5:c.1732T>C NP_000497.1:p.Phe578Leu NC_000011.10:46739270:T:C p.(Phe578Leu) NC_000011.10:46739270:T:C p.(Phe578Leu) NC_000011.10:46739270:T:C Identity +NM_000535.7:c.2517C>G NP_000526.2:p.His839Gln NC_000007.14:5973470:G:C p.(His839Gln) NC_000007.14:5973470:G:C p.(His839Gln) NC_000007.14:5973470:G:C Identity +NM_000545.8:c.286G>A NP_000536.6:p.Glu96Lys NC_000012.12:120979053:G:A p.(Glu96Lys) NC_000012.12:120979053:G:A p.(Glu96Lys) NC_000012.12:120979053:G:A Identity +NM_000548.5:c.1414G>T NP_000539.2:p.Val472Leu NC_000016.10:2063023:G:T p.(Val472Leu) NC_000016.10:2063023:G:T p.(Val472Leu) NC_000016.10:2063023:G:T Identity +NM_001010874.5:c.131G>A NP_001010874.2:p.Gly44Asp NC_000004.12:64409220:C:T p.(Gly44Asp) NC_000004.12:64409220:C:T p.(Gly44Asp) NC_000004.12:64409220:C:T Identity +NM_001048171.2:c.361T>C NP_001041636.2:p.Tyr121His NC_000001.11:45333113:A:G p.(Tyr121His) NC_000001.11:45333113:A:G p.(Tyr121His) NC_000001.11:45333113:A:G Identity +NM_001128844.3:c.2422A>C NP_001122316.1:p.Ile808Leu NC_000019.10:11013095:A:C p.(Ile808Leu) NC_000019.10:11013095:A:C p.(Ile808Leu) NC_000019.10:11013095:A:C Identity +NM_001130144.3:c.3563C>G NP_001123616.1:p.Thr1188Arg NC_000011.10:65539612:G:C p.(Thr1188Arg) NC_000011.10:65539612:G:C p.(Thr1188Arg) NC_000011.10:65539612:G:C Identity +NM_005876.5:c.1071_1074dup NP_005867.3:p.Lys359fs NC_000002.12:219448228:GTCC:GTCCGTCC p.(Lys359ValfsTer35) NC_000002.12:219448228:GTCC:GTCCGTCC p.(Lys359ValfsTer35) ERR:SPDI Analogous +NM_032141.4:c.2T>C NP_115517.1:p.Met1Thr NC_000017.11:30116844:T:C p.(Met1Thr) NC_000017.11:30116844:T:C p.Met1? NC_000017.11:30116844:T:C Identity +NM_001290185.2:c.2678G>A NP_001277114.1:p.Gly893Asp NC_000011.10:119081504:G:A p.(Gly893Asp) NC_000011.10:119081504:G:A p.(Gly893Asp) NC_000011.10:119081504:G:A Identity +NM_206933.4:c.11661G>C NP_996816.3:p.Trp3887Cys NC_000001.11:215741424:C:G p.(Trp3887Cys) NC_000001.11:215741424:C:G p.(Trp3887Cys) NC_000001.11:215741424:C:G Identity +NM_001276378.2:c.454A>T NP_001263307.1:p.Lys152Ter NC_000003.12:45831089:T:A p.(Lys152Ter) NC_000003.12:45831089:T:A p.(Lys152Ter) NC_000003.12:45831089:T:A Identity +NM_007118.4:c.6560_6561del NP_009049.2:p.Arg2187fs NC_000005.10:14482673:GCGC:GC p.(Arg2187HisfsTer5) NC_000005.10:14482673:GCGC:GC p.(Arg2187HisfsTer5) NC_000005.10:14482675:GC: Analogous +NM_001164716.1:c.190C>T NP_001158188.1:p.Leu64Phe NC_000011.10:64759708:G:A p.(Leu64Phe) NC_000011.10:64759708:G:A p.(Leu64Phe) NC_000011.10:64759708:G:A Identity +NM_000484.4:c.1479G>C NP_000475.1:p.Met493Ile NC_000021.9:25955734:C:G p.(Met493Ile) NC_000021.9:25955734:C:G p.(Met493Ile) NC_000021.9:25955734:C:G Identity +NM_006015.6:c.3362C>T NP_006006.3:p.Ala1121Val NC_000001.11:26771281:C:T p.(Ala1121Val) NC_000001.11:26771281:C:T p.(Ala1121Val) NC_000001.11:26771281:C:T Identity +NM_001128844.3:c.1466A>G NP_001122316.1:p.Tyr489Cys NC_000019.10:10994873:A:G p.(Tyr489Cys) NC_000019.10:10994873:A:G p.(Tyr489Cys) NC_000019.10:10994873:A:G Identity +NM_000264.5:c.3271G>T NP_000255.2:p.Gly1091Cys NC_000009.12:95456310:C:A p.(Gly1091Cys) NC_000009.12:95456310:C:A p.(Gly1091Cys) NC_000009.12:95456310:C:A Identity +NM_000321.3:c.2222G>T NP_000312.2:p.Arg741Leu NC_000013.11:48465007:G:T p.(Arg741Leu) NC_000013.11:48465007:G:T p.(Arg741Leu) NC_000013.11:48465007:G:T Identity +NM_000368.5:c.1706A>C NP_000359.1:p.Asp569Ala NC_000009.12:132905871:T:G p.(Asp569Ala) NC_000009.12:132905871:T:G p.(Asp569Ala) NC_000009.12:132905871:T:G Identity +NM_000368.5:c.2193A>C NP_000359.1:p.Glu731Asp NC_000009.12:132903665:T:G p.(Glu731Asp) NC_000009.12:132903665:T:G p.(Glu731Asp) NC_000009.12:132903665:T:G Identity +NM_000384.3:c.7032A>C NP_000375.3:p.Leu2344Phe NC_000002.12:21009835:T:G p.(Leu2344Phe) NC_000002.12:21009835:T:G p.(Leu2344Phe) NC_000002.12:21009835:T:G Identity +NM_001256850.1:c.1507C>T NP_001243779.1:p.Gln503Ter NC_000002.12:178793432:G:A p.(Gln503Ter) NC_000002.12:178793432:G:A p.(Gln503Ter) NC_000002.12:178793432:G:A Identity +NM_004423.4:c.903G>C NP_004414.3:p.Gln301His NC_000003.12:184166264:G:C p.(Gln301His) NC_000003.12:184166264:G:C p.(Gln301His) NC_000003.12:184166264:G:C Identity +NM_000492.4:c.698T>A NP_000483.3:p.Leu233His NC_000007.14:117535365:T:A p.(Leu233His) NC_000007.14:117535365:T:A p.(Leu233His) NC_000007.14:117535365:T:A Identity +LRG_161t1:c.509A>T LRG_161p1:p.His170Leu NC_000007.14:6002480:T:A ERR:Data provider error: ValueError: Transcript LRG_161t1 not found ERR:Data provider error: ValueError: Transcript LRG_161t1 not found ERR:AlignmentMapper(tx_ac=LRG_161t1, alt_ac=LRG_161t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_161t1, alt_ac=LRG_161t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_161t1 not found +NM_000051.4:c.2122G>A NP_000042.3:p.Glu708Lys NC_000011.10:108254036:G:A p.(Glu708Lys) NC_000011.10:108254036:G:A p.(Glu708Lys) NC_000011.10:108254036:G:A Identity +NM_001035.3:c.1295G>A NP_001026.2:p.Gly432Asp NC_000001.11:237454392:G:A p.(Gly432Asp) NC_000001.11:237454392:G:A p.(Gly432Asp) NC_000001.11:237454392:G:A Identity +NM_000552.5:c.953A>G NP_000543.3:p.Asn318Ser NC_000012.12:6073662:T:C p.(Asn318Ser) NC_000012.12:6073662:T:C p.(Asn318Ser) NC_000012.12:6073662:T:C Identity +NM_001040108.2:c.1548T>G NP_001035197.1:p.Cys516Trp NC_000014.9:75048107:A:C p.(Cys516Trp) NC_000014.9:75048107:A:C p.(Cys516Trp) NC_000014.9:75048107:A:C Identity +NM_000297.4:c.325G>T NP_000288.1:p.Gly109Ter NC_000004.12:88008057:G:T p.(Gly109Ter) NC_000004.12:88008057:G:T p.(Gly109Ter) NC_000004.12:88008057:G:T Identity +NM_001023570.4:c.507dup NP_001018864.2:p.His171fs NC_000003.12:121807423:G:GG p.(His171ThrfsTer6) NC_000003.12:121807423:G:GG p.(His171ThrfsTer6) ERR:SPDI Analogous +NM_199046.3:c.34G>A NP_950247.3:p.Asp12Asn NC_000016.10:57977849:G:A p.(Asp12Asn) NC_000016.10:57977849:G:A p.(Asp12Asn) NC_000016.10:57977849:G:A Identity +NM_001366520.1:c.3455T>C NP_001353449.1:p.Ile1152Thr NC_000012.12:89591191:A:G p.(Ile1152Thr) NC_000012.12:89591191:A:G p.(Ile1152Thr) NC_000012.12:89591191:A:G Identity +NM_003542.4:c.27del NP_003533.1:p.Gly10fs NC_000006.12:26103970:AAAA:AAA p.(Gly10AlafsTer54) NC_000006.12:26103970:AAAA:AAA p.(Gly10AlafsTer54) NC_000006.12:26103973:A: Analogous +NM_001368395.3:c.3539G>A NP_001355324.1:p.Gly1180Glu NC_000023.11:12718253:G:A p.(Gly1180Glu) NC_000023.11:12718253:G:A p.(Gly1180Glu) NC_000023.11:12718253:G:A Identity +NM_001007272.2:c.547C>T NP_001007273.1:p.Arg183Cys NC_000010.11:75094875:G:A p.(Arg183Cys) NC_000010.11:75094875:G:A p.(Arg183Cys) NC_000010.11:75094875:G:A Identity +NM_001163417.1:c.447A>G NP_001156889.1:p.Ile149Met NC_000005.10:93881670:T:C p.(Ile149Met) NC_000005.10:93881670:T:C p.(Ile149Met) NC_000005.10:93881670:T:C Identity +NM_001001710.3:c.863C>T NP_001001710.1:p.Pro288Leu NC_000009.12:137244172:G:A p.(Pro288Leu) NC_000009.12:137244172:G:A p.(Pro288Leu) NC_000009.12:137244172:G:A Identity +NM_001099951.4:c.547A>G NP_001093421.1:p.Thr183Ala NC_000009.12:35562503:T:C p.(Thr183Ala) NC_000009.12:35562503:T:C p.(Thr183Ala) NC_000009.12:35562503:T:C Identity +NM_001099951.4:c.97G>A NP_001093421.1:p.Val33Met NC_000009.12:35563354:C:T p.(Val33Met) NC_000009.12:35563354:C:T p.(Val33Met) NC_000009.12:35563354:C:T Identity +NM_001368395.3:c.2911del NP_001355324.1:p.Arg971fs NC_000023.11:12717623:CCC:CC p.(Arg971AlafsTer143) NC_000023.11:12717623:CCC:CC p.(Arg971AlafsTer143) NC_000023.11:12717625:C: Analogous +NM_004423.4:c.1639T>C NP_004414.3:p.Tyr547His NC_000003.12:184170145:T:C p.(Tyr547His) NC_000003.12:184170145:T:C p.(Tyr547His) NC_000003.12:184170145:T:C Identity +NM_000458.4:c.827_837del NP_000449.1:p.Arg276fs NC_000017.11:37731802:GGACACCCCTCG:G p.(Arg276ProfsTer14) NC_000017.11:37731802:GGACACCCCTCG:G p.(Arg276ProfsTer14) NC_000017.11:37731802:GGACACCCCTC: Analogous +NM_000342.4:c.2712C>G NP_000333.1:p.Tyr904Ter NC_000017.11:44250481:G:C p.(Tyr904Ter) NC_000017.11:44250481:G:C p.(Tyr904Ter) NC_000017.11:44250481:G:C Identity +NM_001844.5:c.3144A>T NP_001835.3:p.Arg1048Ser NC_000012.12:47977620:T:A p.(Arg1048Ser) NC_000012.12:47977620:T:A p.(Arg1048Ser) NC_000012.12:47977620:T:A Identity +NM_005267.5:c.116C>T NP_005258.2:p.Thr39Met NC_000001.11:147908070:C:T p.(Thr39Met) NC_000001.11:147908070:C:T p.(Thr39Met) NC_000001.11:147908070:C:T Identity +NM_001170629.2:c.68A>C NP_001164100.1:p.Asp23Ala NC_000014.9:21431575:T:G p.(Asp23Ala) NC_000014.9:21431575:T:G p.(Asp23Ala) NC_000014.9:21431575:T:G Identity +NM_170606.3:c.3233G>A NP_733751.2:p.Cys1078Tyr NC_000007.14:152224104:C:T p.(Cys1078Tyr) NC_000007.14:152224104:C:T p.(Cys1078Tyr) NC_000007.14:152224104:C:T Identity +NM_145886.4:c.76G>A NP_665893.2:p.Gly26Arg NC_000011.10:804312:C:T p.(Gly26Arg) NC_000011.10:804312:C:T p.(Gly26Arg) NC_000011.10:804312:C:T Identity +NM_001303052.2:c.647C>A NP_001289981.1:p.Ala216Asp NC_000002.12:1923121:G:T p.(Ala216Asp) NC_000002.12:1923121:G:T p.(Ala216Asp) NC_000002.12:1923121:G:T Identity +NM_000296.4:c.6638G>C NP_000287.4:p.Arg2213Pro NC_000016.10:2108528:C:G p.(Arg2213Pro) NC_000016.10:2108528:C:G p.(Arg2213Pro) NC_000016.10:2108528:C:G Identity +NM_000495.5:c.2492G>A NP_000486.1:p.Gly831Glu NC_000023.11:108615006:G:A p.(Gly831Glu) NC_000023.11:108615006:G:A p.(Gly831Glu) NC_000023.11:108615006:G:A Identity +NM_001411020.1:c.1232T>A NP_001397949.1:p.Met411Lys NC_000014.9:50159951:A:T p.(Met411Lys) NC_000014.9:50159951:A:T p.(Met411Lys) NC_000014.9:50159951:A:T Identity +NM_001284333.3:c.2199G>C NP_001271262.1:p.Gln733His NC_000017.11:62612444:G:C p.(Gln733His) NC_000017.11:62612444:G:C p.(Gln733His) NC_000017.11:62612444:G:C Identity +NM_000059.4:c.4309dup NP_000050.3:p.Ser1437fs NC_000013.11:32338663:A:AA p.(Ser1437LysfsTer8) NC_000013.11:32338663:A:AA p.(Ser1437LysfsTer8) ERR:SPDI Analogous +NM_000702.4:c.739T>G NP_000693.1:p.Cys247Gly NC_000001.11:160125243:T:G p.(Cys247Gly) NC_000001.11:160125243:T:G p.(Cys247Gly) NC_000001.11:160125243:T:G Identity +NM_001320644.2:c.1750_1751del NP_001307573.1:p.Gly584fs NC_000010.11:122586349:GG: p.(Gly584ProfsTer2) NC_000010.11:122586349:GG: p.(Gly584ProfsTer2) NC_000010.11:122586349:GG: Analogous +NM_001605.3:c.584T>C NP_001596.2:p.Ile195Thr NC_000016.10:70271867:A:G p.(Ile195Thr) NC_000016.10:70271867:A:G p.(Ile195Thr) NC_000016.10:70271867:A:G Identity +NM_014727.3:c.2422CAG[4] NP_055542.1:p.Gln812del NC_000019.10:35721768:CAGCAGCAGCAGCAG:CAGCAGCAGCAG p.(Gln812del) NC_000019.10:35721768:C:CAGCAGCAGCAG ERR:Parse ERR:Parse Identity +NM_144666.3:c.2897A>G NP_653267.2:p.Asp966Gly NC_000011.10:6534071:A:G p.(Asp966Gly) NC_000011.10:6534071:A:G p.(Asp966Gly) NC_000011.10:6534071:A:G Identity +NM_000135.4:c.2680A>T NP_000126.2:p.Arg894Ter NC_000016.10:89764987:T:A p.(Arg894Ter) NC_000016.10:89764987:T:A p.(Arg894Ter) NC_000016.10:89764987:T:A Identity +NM_000378.6:c.1226A>G NP_000369.4:p.Tyr409Cys NC_000011.10:32392742:T:C p.(Tyr409Cys) NC_000011.10:32392742:T:C p.(Tyr409Cys) NC_000011.10:32392742:T:C Identity +NM_000092.5:c.1759G>T NP_000083.3:p.Gly587Cys NC_000002.12:227080486:C:A p.(Gly587Cys) NC_000002.12:227080486:C:A p.(Gly587Cys) NC_000002.12:227080486:C:A Identity +NM_000264.5:c.394G>A NP_000255.2:p.Val132Ile NC_000009.12:95506406:C:T p.(Val132Ile) NC_000009.12:95506406:C:T p.(Val132Ile) NC_000009.12:95506406:C:T Identity +NM_153376.3:c.313G>A NP_699207.1:p.Ala105Thr NC_000004.12:7042625:C:T p.(Ala105Thr) NC_000004.12:7042625:C:T p.(Ala105Thr) NC_000004.12:7042625:C:T Identity +NM_175881.5:c.487A>T NP_787077.1:p.Met163Leu NC_000015.10:75727201:A:T p.(Met163Leu) NC_000015.10:75727201:A:T p.(Met163Leu) NC_000015.10:75727201:A:T Identity +NM_003212.4:c.45G>T NP_003203.1:p.Trp15Cys NC_000003.12:46579103:G:T p.(Trp15Cys) NC_000003.12:46579103:G:T p.(Trp15Cys) NC_000003.12:46579103:G:T Identity +NM_152670.3:c.49T>C NP_689883.1:p.Tyr17His NC_000002.12:88526425:T:C p.(Tyr17His) NC_000002.12:88526425:T:C p.(Tyr17His) NC_000002.12:88526425:T:C Identity +NM_001099951.4:c.172C>T NP_001093421.1:p.Arg58Cys NC_000009.12:35563279:G:A p.(Arg58Cys) NC_000009.12:35563279:G:A p.(Arg58Cys) NC_000009.12:35563279:G:A Identity +NM_001174146.2:c.389G>A NP_001167617.1:p.Arg130Gln NC_000009.12:126690897:G:A p.(Arg130Gln) NC_000009.12:126690897:G:A p.(Arg130Gln) NC_000009.12:126690897:G:A Identity +NM_000296.4:c.4493A>G NP_000287.4:p.Tyr1498Cys NC_000016.10:2110673:T:C p.(Tyr1498Cys) NC_000016.10:2110673:T:C p.(Tyr1498Cys) NC_000016.10:2110673:T:C Identity +NM_001134363.3:c.165A>C NP_001127835.2:p.Gln55His NC_000010.11:110644618:A:C p.(Gln55His) NC_000010.11:110644618:A:C p.(Gln55His) NC_000010.11:110644618:A:C Identity +NM_001134363.3:c.616A>T NP_001127835.2:p.Thr206Ser NC_000010.11:110781224:A:T p.(Thr206Ser) NC_000010.11:110781224:A:T p.(Thr206Ser) NC_000010.11:110781224:A:T Identity +NM_170606.3:c.13618C>T NP_733751.2:p.Gln4540Ter NC_000007.14:152148308:G:A p.(Gln4540Ter) NC_000007.14:152148308:G:A p.(Gln4540Ter) NC_000007.14:152148308:G:A Identity +NM_001128827.4:c.1938del NP_001122299.1:p.Phe646fs NC_000017.11:7191921:G: p.(Phe646LeufsTer11) NC_000017.11:7191921:G: p.(Phe646LeufsTer11) NC_000017.11:7191921:G: Analogous +NM_000089.4:c.3256C>T NP_000080.2:p.Gln1086Ter NC_000007.14:94427283:C:T p.(Gln1086Ter) NC_000007.14:94427283:C:T p.(Gln1086Ter) NC_000007.14:94427283:C:T Identity +NM_007186.6:c.1494_1503delinsCCT NP_009117.2:p.Gln499fs NC_000020.11:35473974:GCAGGGGGAC:CCT p.(Gln499LeufsTer28) NC_000020.11:35473974:GCAGGGGGAC:CCT p.(Gln499LeufsTer28) NC_000020.11:35473974:GCAGGGGGAC:CCT Analogous +NM_000069.3:c.104C>T NP_000060.2:p.Thr35Ile NC_000001.11:201112235:G:A p.(Thr35Ile) NC_000001.11:201112235:G:A p.(Thr35Ile) NC_000001.11:201112235:G:A Identity +NM_001371533.1:c.1135A>G NP_001358462.1:p.Ile379Val NC_000014.9:65724198:A:G p.(Ile379Val) NC_000014.9:65724198:A:G p.(Ile379Val) NC_000014.9:65724198:A:G Identity +NM_000091.5:c.2435G>T NP_000082.2:p.Gly812Val NC_000002.12:227280952:G:T p.(Gly812Val) NC_000002.12:227280952:G:T p.(Gly812Val) NC_000002.12:227280952:G:T Identity +NM_001244580.2:c.7126A>C NP_001231509.1:p.Lys2376Gln NC_000007.14:98965865:A:C p.(Lys2376Gln) NC_000007.14:98965865:A:C p.(Lys2376Gln) NC_000007.14:98965865:A:C Identity +NM_001161683.2:c.1235A>C NP_001155155.1:p.Gln412Pro NC_000016.10:21715135:A:C p.(Gln412Pro) NC_000016.10:21715135:A:C p.(Gln412Pro) NC_000016.10:21715135:A:C Identity +NM_005921.2:c.1903T>C NP_005912.1:p.Cys635Arg NC_000005.10:56875247:T:C p.(Cys635Arg) NC_000005.10:56875247:T:C p.(Cys635Arg) NC_000005.10:56875247:T:C Identity +NM_002737.3:c.107A>G NP_002728.2:p.Asp36Gly NC_000017.11:66302957:A:G p.(Asp36Gly) NC_000017.11:66302957:A:G p.(Asp36Gly) NC_000017.11:66302957:A:G Identity +NM_001003722.2:c.1902G>A NP_001003722.1:p.Met634Ile NC_000009.12:128539635:G:A p.(Met634Ile) NC_000009.12:128539635:G:A p.(Met634Ile) NC_000009.12:128539635:G:A Identity +NM_153376.3:c.1112A>T NP_699207.1:p.Glu371Val NC_000004.12:7041826:T:A p.(Glu371Val) NC_000004.12:7041826:T:A p.(Glu371Val) NC_000004.12:7041826:T:A Identity +NM_001174136.2:c.94G>A NP_001167607.1:p.Asp32Asn NC_000003.12:46579284:G:A p.(Asp32Asn) NC_000003.12:46579284:G:A p.(Asp32Asn) NC_000003.12:46579284:G:A Identity +NM_173482.3:c.820C>T NP_775753.2:p.Arg274Cys NC_000019.10:15020604:C:T p.(Arg274Cys) NC_000019.10:15020604:C:T p.(Arg274Cys) NC_000019.10:15020604:C:T Identity +NM_001166699.2:c.304G>A NP_001160171.1:p.Glu102Lys NC_000023.11:55143825:C:T p.(Glu102Lys) NC_000023.11:55143825:C:T p.(Glu102Lys) NC_000023.11:55143825:C:T Identity +NM_001376.5:c.11452C>G NP_001367.2:p.Leu3818Val NC_000014.9:102039245:C:G p.(Leu3818Val) NC_000014.9:102039245:C:G p.(Leu3818Val) NC_000014.9:102039245:C:G Identity +NM_001284214.2:c.5150A>G NP_001271143.1:p.Tyr1717Cys NC_000002.12:229778565:T:C p.(Tyr1717Cys) NC_000002.12:229778565:T:C p.(Tyr1717Cys) NC_000002.12:229778565:T:C Identity +NM_001007471.4:c.4662G>T NP_001007472.2:p.Arg1554Ser NC_000009.12:70536414:C:A p.(Arg1554Ser) NC_000009.12:70536414:C:A p.(Arg1554Ser) NC_000009.12:70536414:C:A Identity +NM_001354263.2:c.3560A>T NP_001341192.1:p.Asn1187Ile NC_000009.12:137834388:A:T p.(Asn1187Ile) NC_000009.12:137834388:A:T p.(Asn1187Ile) NC_000009.12:137834388:A:T Identity +NM_000321.3:c.1027_1028del NP_000312.2:p.Leu343fs NC_000013.11:48367578:CTCT:CT p.(Leu343SerfsTer3) NC_000013.11:48367578:CTCT:CT p.(Leu343SerfsTer3) NC_000013.11:48367580:CT: Analogous +NM_000321.3:c.1400dup NP_000312.2:p.Leu468fs NC_000013.11:48380062:G:GG p.(Leu468IlefsTer7) NC_000013.11:48380062:G:GG p.(Leu468IlefsTer7) ERR:SPDI Analogous +NM_000321.3:c.2373_2374insA NP_000312.2:p.Phe792fs NC_000013.11:48465252::A p.(Phe792IlefsTer3) NC_000013.11:48465251:G:A p.(Phe792IlefsTer3) NC_000013.11:48465252:GT:A Analogous +NM_000321.3:c.341C>A NP_000312.2:p.Ser114Ter NC_000013.11:48342674:C:A p.(Ser114Ter) NC_000013.11:48342674:C:A p.(Ser114Ter) NC_000013.11:48342674:C:A Identity +NM_000321.3:c.1448A>G NP_000312.2:p.His483Arg NC_000013.11:48380190:A:G p.(His483Arg) NC_000013.11:48380190:A:G p.(His483Arg) NC_000013.11:48380190:A:G Identity +NM_000321.3:c.232del NP_000312.2:p.Trp78fs NC_000013.11:48307372:TT:T p.(Trp78GlyfsTer33) NC_000013.11:48307372:TT:T p.(Trp78GlyfsTer33) NC_000013.11:48307373:T: Analogous +NM_000092.5:c.1987G>A NP_000083.3:p.Gly663Ser NC_000002.12:227077893:C:T p.(Gly663Ser) NC_000002.12:227077893:C:T p.(Gly663Ser) NC_000002.12:227077893:C:T Identity +NM_001270476.2:c.155T>C NP_001257405.1:p.Leu52Pro NC_000006.12:43007280:T:C p.(Leu52Pro) NC_000006.12:43007280:T:C p.(Leu52Pro) NC_000006.12:43007280:T:C Identity +NM_001135.4:c.1748_1764del NP_001126.3:p.Ala583fs NC_000015.10:88849451:GCCACACGCCTTGAGCAG:G p.(Ala583ValfsTer11) NC_000015.10:88849451:GCCACACGCCTTGAGCAG:G p.(Ala583ValfsTer11) NC_000015.10:88849452:CCACACGCCTTGAGCAG: Analogous +NM_139025.5:c.4207G>A NP_620594.1:p.Gly1403Ser NC_000009.12:133459102:G:A p.(Gly1403Ser) NC_000009.12:133459102:G:A p.(Gly1403Ser) NC_000009.12:133459102:G:A Identity +NM_006767.4:c.1619A>C NP_006758.2:p.His540Pro NC_000022.11:20994560:A:C p.(His540Pro) NC_000022.11:20994560:A:C p.(His540Pro) NC_000022.11:20994560:A:C Identity +NM_006767.4:c.1687G>T NP_006758.2:p.Glu563Ter NC_000022.11:20994628:G:T p.(Glu563Ter) NC_000022.11:20994628:G:T p.(Glu563Ter) NC_000022.11:20994628:G:T Identity +NM_006767.4:c.1610G>T NP_006758.2:p.Arg537Leu NC_000022.11:20994263:G:T p.(Arg537Leu) NC_000022.11:20994263:G:T p.(Arg537Leu) NC_000022.11:20994263:G:T Identity +NM_006767.4:c.1933G>C NP_006758.2:p.Val645Leu NC_000022.11:20995016:G:C p.(Val645Leu) NC_000022.11:20995016:G:C p.(Val645Leu) NC_000022.11:20995016:G:C Identity +NM_006767.4:c.2463_2464insC NP_006758.2:p.Asp822fs NC_000022.11:20997288::C p.(Asp822ArgfsTer29) NC_000022.11:20997287:A:C p.(Asp822ArgfsTer29) NC_000022.11:20997288:AG:C Analogous +NM_006767.4:c.2054T>G NP_006758.2:p.Leu685Arg NC_000022.11:20995856:T:G p.(Leu685Arg) NC_000022.11:20995856:T:G p.(Leu685Arg) NC_000022.11:20995856:T:G Identity +NM_006767.4:c.2295G>C NP_006758.2:p.Glu765Asp NC_000022.11:20996770:G:C p.(Glu765Asp) NC_000022.11:20996770:G:C p.(Glu765Asp) NC_000022.11:20996770:G:C Identity +NM_006767.4:c.46C>G NP_006758.2:p.Leu16Val NC_000022.11:20982416:C:G p.(Leu16Val) NC_000022.11:20982416:C:G p.(Leu16Val) NC_000022.11:20982416:C:G Identity +NM_006767.4:c.2159del NP_006758.2:p.Phe720fs NC_000022.11:20996050:TT:T p.(Phe720SerfsTer47) NC_000022.11:20996050:TT:T p.(Phe720SerfsTer47) NC_000022.11:20996051:T: Analogous +NM_006767.4:c.29A>C NP_006758.2:p.Gln10Pro NC_000022.11:20982399:A:C p.(Gln10Pro) NC_000022.11:20982399:A:C p.(Gln10Pro) NC_000022.11:20982399:A:C Identity +NM_001407041.1:c.629G>C NP_001393970.1:p.Ser210Thr NC_000018.10:51054954:G:C p.(Ser210Thr) NC_000018.10:51054954:G:C p.(Ser210Thr) NC_000018.10:51054954:G:C Identity +NM_001193376.3:c.1217G>A NP_001180305.1:p.Gly406Glu NC_000005.10:1293668:C:T p.(Gly406Glu) NC_000005.10:1293668:C:T p.(Gly406Glu) NC_000005.10:1293668:C:T Identity +NM_001193376.3:c.3131T>A NP_001180305.1:p.Leu1044His NC_000005.10:1253806:A:T p.(Leu1044His) NC_000005.10:1253806:A:T p.(Leu1044His) NC_000005.10:1253806:A:T Identity +NM_000459.5:c.2865G>C NP_000450.3:p.Leu955Phe NC_000009.12:27212884:G:C p.(Leu955Phe) NC_000009.12:27212884:G:C p.(Leu955Phe) NC_000009.12:27212884:G:C Identity +NM_001171653.2:c.878_879del NP_001165124.1:p.Lys293fs NC_000002.12:144400235:TTT:T p.(Lys293ThrfsTer38) NC_000002.12:144400235:TTT:T p.(Lys293ThrfsTer38) NC_000002.12:144400235:TT: Analogous +NM_001134771.2:c.2758G>A NP_001128243.1:p.Asp920Asn NC_000020.11:46054924:G:A p.(Asp920Asn) NC_000020.11:46054924:G:A p.(Asp920Asn) NC_000020.11:46054924:G:A Identity +NM_181503.3:c.628C>A NP_852480.1:p.Pro210Thr NC_000013.11:37008747:C:A p.(Pro210Thr) NC_000013.11:37008747:C:A p.(Pro210Thr) NC_000013.11:37008747:C:A Identity +NM_003482.4:c.4841G>A NP_003473.3:p.Arg1614Gln NC_000012.12:49044865:C:T p.(Arg1614Gln) NC_000012.12:49044865:C:T p.(Arg1614Gln) NC_000012.12:49044865:C:T Identity +NM_000335.5:c.1551del NP_000326.2:p.Thr518fs NC_000003.12:38604050:CC:C p.(Thr518LeufsTer3) NC_000003.12:38604050:CC:C p.(Thr518LeufsTer3) NC_000003.12:38604050:C: Analogous +NM_020795.4:c.958G>T NP_065846.1:p.Glu320Ter NC_000017.11:7415068:G:T p.(Glu320Ter) NC_000017.11:7415068:G:T p.(Glu320Ter) NC_000017.11:7415068:G:T Identity +NM_001368062.3:c.3278T>G NP_001354991.2:p.Ile1093Ser NC_000012.12:80310689:T:G p.(Ile1093Ser) NC_000012.12:80310689:T:G p.(Ile1093Ser) NC_000012.12:80310689:T:G Identity +NM_001300899.2:c.1445A>G NP_001287828.1:p.Gln482Arg NC_000006.12:75858964:A:G p.(Gln482Arg) NC_000006.12:75858964:A:G p.(Gln482Arg) NC_000006.12:75858964:A:G Identity +NM_001410991.1:c.2512G>A NP_001397920.1:p.Gly838Ser NC_000009.12:115078104:C:T p.(Gly838Ser) NC_000009.12:115078104:C:T p.(Gly838Ser) NC_000009.12:115078104:C:T Identity +NM_001206998.2:c.965C>G NP_001193927.1:p.Pro322Arg NC_000022.11:29048440:C:G p.(Pro322Arg) NC_000022.11:29048440:C:G p.(Pro322Arg) NC_000022.11:29048440:C:G Identity +NM_000545.8:c.390G>T NP_000536.6:p.Gln130His NC_000012.12:120988895:G:T p.(Gln130His) NC_000012.12:120988895:G:T p.(Gln130His) NC_000012.12:120988895:G:T Identity +NM_001413184.1:c.4447G>T NP_001400113.1:p.Ala1483Ser NC_000008.11:67218029:C:A p.(Ala1483Ser) NC_000008.11:67218029:C:A p.(Ala1483Ser) NC_000008.11:67218029:C:A Identity +NM_000457.6:c.683T>C NP_000448.3:p.Leu228Pro NC_000020.11:44418458:T:C p.(Leu228Pro) NC_000020.11:44418458:T:C p.(Leu228Pro) NC_000020.11:44418458:T:C Identity +NM_001330609.2:c.2465G>A NP_001317538.1:p.Arg822Gln NC_000008.11:125039839:C:T p.(Arg822Gln) NC_000008.11:125039839:C:T p.(Arg822Gln) NC_000008.11:125039839:C:T Identity +NM_004667.6:c.4138C>A NP_004658.3:p.His1380Asn NC_000015.10:28234149:G:T p.(His1380Asn) NC_000015.10:28234149:G:T p.(His1380Asn) NC_000015.10:28234149:G:T Identity +NM_001283009.2:c.3199G>A NP_001269938.1:p.Ala1067Thr NC_000020.11:63694829:G:A p.(Ala1067Thr) NC_000020.11:63694829:G:A p.(Ala1067Thr) NC_000020.11:63694829:G:A Identity +NM_000053.4:c.2960T>C NP_000044.2:p.Leu987Pro NC_000013.11:51946383:A:G p.(Leu987Pro) NC_000013.11:51946383:A:G p.(Leu987Pro) NC_000013.11:51946383:A:G Identity +NM_001278196.2:c.1516C>T NP_001265125.1:p.Pro506Ser NC_000001.11:244055316:C:T p.(Pro506Ser) NC_000001.11:244055316:C:T p.(Pro506Ser) NC_000001.11:244055316:C:T Identity +NM_001271.4:c.1831T>C NP_001262.3:p.Trp611Arg NC_000015.10:92956479:T:C p.(Trp611Arg) NC_000015.10:92956479:T:C p.(Trp611Arg) NC_000015.10:92956479:T:C Identity +NM_001351444.2:c.5143A>G NP_001338373.1:p.Thr1715Ala NC_000006.12:87259191:A:G p.(Thr1715Ala) NC_000006.12:87259191:A:G p.(Thr1715Ala) NC_000006.12:87259191:A:G Identity +NM_000358.3:c.1877A>C NP_000349.1:p.His626Pro NC_000005.10:136060906:A:C p.(His626Pro) NC_000005.10:136060906:A:C p.(His626Pro) NC_000005.10:136060906:A:C Identity +NM_014423.4:c.3104C>A NP_055238.1:p.Ser1035Tyr NC_000005.10:132885114:G:T p.(Ser1035Tyr) NC_000005.10:132885114:G:T p.(Ser1035Tyr) NC_000005.10:132885114:G:T Identity +NM_001376262.1:c.2708A>G NP_001363191.1:p.Tyr903Cys NC_000011.10:64651464:T:C p.(Tyr903Cys) NC_000011.10:64651464:T:C p.(Tyr903Cys) NC_000011.10:64651464:T:C Identity +NM_001302996.2:c.1299_1314del NP_001289925.1:p.Leu434fs NC_000018.10:23773607:GTGTATCTTAGCCTGTGTGTA:GTGTA p.(Leu434CysfsTer31) NC_000018.10:23773607:GTGTATCTTAGCCTGTGTGTA:GTGTA p.(Leu434CysfsTer31) NC_000018.10:23773612:TCTTAGCCTGTGTGTA: Analogous +NM_000525.4:c.1090del NP_000516.3:p.Ala364fs NC_000011.10:17387001:C: p.(Ala364ProfsTer47) NC_000011.10:17387001:C: p.(Ala364ProfsTer47) NC_000011.10:17387001:C: Analogous +NM_000275.3:c.409_415del NP_000266.2:p.Arg137fs NC_000015.10:28027970:GGTATCT: p.(Arg137CysfsTer2) NC_000015.10:28027970:GGTATCT: p.(Arg137CysfsTer2) NC_000015.10:28027970:GGTATCT: Analogous +NM_000282.4:c.1306C>T NP_000273.2:p.Gln436Ter NC_000013.11:100307212:C:T p.(Gln436Ter) NC_000013.11:100307212:C:T p.(Gln436Ter) NC_000013.11:100307212:C:T Identity +NM_001347828.2:c.3272C>A NP_001334757.1:p.Thr1091Asn NC_000004.12:54295198:C:A p.(Thr1091Asn) NC_000004.12:54295198:C:A p.(Thr1091Asn) NC_000004.12:54295198:C:A Identity +NM_001347827.2:c.2237T>C NP_001334756.1:p.Leu746Pro NC_000004.12:54280395:T:C p.(Leu746Pro) NC_000004.12:54280395:T:C p.(Leu746Pro) NC_000004.12:54280395:T:C Identity +NM_000318.3:c.732C>A NP_000309.2:p.Cys244Ter NC_000008.11:76983446:G:T p.(Cys244Ter) NC_000008.11:76983446:G:T p.(Cys244Ter) NC_000008.11:76983446:G:T Identity +NM_138694.4:c.1553G>A NP_619639.3:p.Trp518Ter NC_000006.12:52056938:C:T p.(Trp518Ter) NC_000006.12:52056938:C:T p.(Trp518Ter) NC_000006.12:52056938:C:T Identity +NM_001164507.2:c.24889_24890insGG NP_001157979.2:p.Asp8297fs NC_000002.12:151492265:C:CCC p.(Asp8297GlyfsTer14) NC_000002.12:151492264:T:CC p.(Asp8297GlyfsTer14) NC_000002.12:151492265:TC:CC Analogous +LRG_202t1:c.24694A>T LRG_202p1:p.Lys8232Ter NC_000002.12:151493857:T:A ERR:Data provider error: ValueError: Transcript LRG_202t1 not found ERR:Data provider error: ValueError: Transcript LRG_202t1 not found ERR:AlignmentMapper(tx_ac=LRG_202t1, alt_ac=LRG_202t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_202t1, alt_ac=LRG_202t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_202t1 not found +NM_001297575.2:c.104_126dup NP_001284504.1:p.Pro43fs NC_000001.11:179575738:CCCAGCCTCCTGGCGCCCGCGGCC:CCCAGCCTCCTGGCGCCCGCGGCCCCAGCCTCCTGGCGCCCGCGGCC p.(Pro43AlafsTer64) NC_000001.11:179575738:CCCAGCCTCCTGGCGCCCGCGGCC:CCCAGCCTCCTGGCGCCCGCGGCCCCAGCCTCCTGGCGCCCGCGGCC p.(Pro43AlafsTer64) ERR:SPDI Analogous +NM_004553.6:c.185_186del NP_004544.1:p.Glu62fs NC_000005.10:1802370:AGAG:AG p.(Glu62GlyfsTer3) NC_000005.10:1802370:AGAG:AG p.(Glu62GlyfsTer3) NC_000005.10:1802372:AG: Analogous +NM_000038.6:c.347G>T NP_000029.2:p.Gly116Val NC_000005.10:112767314:G:T p.(Gly116Val) NC_000005.10:112767314:G:T p.(Gly116Val) NC_000005.10:112767314:G:T Identity +NM_000038.6:c.6761A>G NP_000029.2:p.Lys2254Arg NC_000005.10:112842354:A:G p.(Lys2254Arg) NC_000005.10:112842354:A:G p.(Lys2254Arg) NC_000005.10:112842354:A:G Identity +NM_006261.5:c.112dup NP_006252.4:p.Ser38fs NC_000005.10:177994335:A:AA p.(Ser38PhefsTer73) NC_000005.10:177994335:A:AA p.(Ser38PhefsTer73) ERR:SPDI Analogous +NM_000264.5:c.3058_3060delinsGAC NP_000255.2:p.Gln1020Asp NC_000009.12:95458120:CTG:GTC p.(Gln1020Asp) NC_000009.12:95458120:CTG:GTC p.(Gln1020Asp) NC_000009.12:95458120:CTG:GTC Identity +NM_001005498.4:c.1282T>G NP_001005498.2:p.Phe428Val NC_000017.11:76474749:A:C p.(Phe428Val) NC_000017.11:76474749:A:C p.(Phe428Val) NC_000017.11:76474749:A:C Identity +NM_001005498.4:c.1066A>G NP_001005498.2:p.Ser356Gly NC_000017.11:76476878:T:C p.(Ser356Gly) NC_000017.11:76476878:T:C p.(Ser356Gly) NC_000017.11:76476878:T:C Identity +NM_001142571.2:c.192_201del NP_001136043.1:p.Val66fs NC_000017.11:35116980:GGGGACCTGAGG:GG p.(Val66GlyfsTer11) NC_000017.11:35116980:GGGGACCTGAGG:GG p.(Val66GlyfsTer11) NC_000017.11:35116980:GGGGACCTGA: Analogous +NM_001005498.4:c.1684A>C NP_001005498.2:p.Met562Leu NC_000017.11:76473696:T:G p.(Met562Leu) NC_000017.11:76473696:T:G p.(Met562Leu) NC_000017.11:76473696:T:G Identity +NM_000466.3:c.2148del NP_000457.1:p.Gln716fs NC_000007.14:92503118:TT:T p.(Gln716HisfsTer37) NC_000007.14:92503118:TT:T p.(Gln716HisfsTer37) NC_000007.14:92503118:T: Analogous +NM_000288.4:c.612T>A NP_000279.1:p.Cys204Ter NC_000006.12:136866711:T:A p.(Cys204Ter) NC_000006.12:136866711:T:A p.(Cys204Ter) NC_000006.12:136866711:T:A Identity +NM_000264.5:c.2657T>A NP_000255.2:p.Leu886His NC_000009.12:95461901:A:T p.(Leu886His) NC_000009.12:95461901:A:T p.(Leu886His) NC_000009.12:95461901:A:T Identity +NM_001278055.2:c.10475del NP_001264984.1:p.Leu3492fs NC_000013.11:23332959:AAA:AA p.(Leu3492CysfsTer7) NC_000013.11:23332959:AAA:AA p.(Leu3492CysfsTer7) NC_000013.11:23332959:A: Analogous +NM_000353.3:c.690del NP_000344.1:p.Gln231fs NC_000016.10:71572201:AA:A p.(Gln231ArgfsTer15) NC_000016.10:71572201:AA:A p.(Gln231ArgfsTer15) NC_000016.10:71572201:A: Analogous +NM_001193376.3:c.1055C>G NP_001180305.1:p.Pro352Arg NC_000005.10:1293830:G:C p.(Pro352Arg) NC_000005.10:1293830:G:C p.(Pro352Arg) NC_000005.10:1293830:G:C Identity +NM_001206855.3:c.241_250delinsGCGTAC NP_001193784.1:p.Arg81fs NC_000007.14:100633086:CTTCGGGCCG:GTACGC p.(Arg81AlafsTer25) NC_000007.14:100633086:CTTCGGGCCGC:CGTACGC p.(Arg81AlafsTer25) NC_000007.14:100633086:CTTCGGGCCG:GTACGC Analogous +NM_000359.3:c.463del NP_000350.1:p.Arg155fs NC_000014.9:24261739:GGG:GG p.(Arg155GlyfsTer27) NC_000014.9:24261739:GGG:GG p.(Arg155GlyfsTer27) NC_000014.9:24261739:G: Analogous +NM_001308122.2:c.292G>T NP_001295051.1:p.Glu98Ter NC_000005.10:132370263:G:T p.(Glu98Ter) NC_000005.10:132370263:G:T p.(Glu98Ter) NC_000005.10:132370263:G:T Identity +NM_000051.4:c.797G>A NP_000042.3:p.Trp266Ter NC_000011.10:108244921:G:A p.(Trp266Ter) NC_000011.10:108244921:G:A p.(Trp266Ter) NC_000011.10:108244921:G:A Identity +NM_206933.4:c.8024_8025del NP_996816.3:p.Leu2675fs NC_000001.11:215888623:GAGAG:GAG p.(Leu2675ProfsTer10) NC_000001.11:215888623:GAGAG:GAG p.(Leu2675ProfsTer10) NC_000001.11:215888623:GA: Analogous +NM_001354726.2:c.1853_1856dup NP_001341655.1:p.Val620fs NC_000003.12:14147986:ATGTAT:ATGTATGTAT p.(Val620HisfsTer17) NC_000003.12:14147986:ATGTAT:ATGTATGTAT p.(Val620HisfsTer17) ERR:SPDI Analogous +NM_000053.4:c.4049T>C NP_000044.2:p.Leu1350Pro NC_000013.11:51935667:A:G p.(Leu1350Pro) NC_000013.11:51935667:A:G p.(Leu1350Pro) NC_000013.11:51935667:A:G Identity +NM_000553.6:c.2164_2171del NP_000544.2:p.Asn722fs NC_000008.11:31111688:AAATCCTCA:A p.(Asn722AspfsTer7) NC_000008.11:31111688:AAATCCTCA:A p.(Asn722AspfsTer7) NC_000008.11:31111689:AATCCTCA: Analogous +NM_001079866.2:c.401_402del NP_001073335.1:p.Ser134fs NC_000002.12:218661484:TCT:T p.(Ser134CysfsTer9) NC_000002.12:218661484:TCT:T p.(Ser134CysfsTer9) NC_000002.12:218661485:CT: Analogous +NM_001171933.1:c.2407del NP_001165404.1:p.Arg803fs NC_000010.11:71811362:CC:C p.(Arg803GlyfsTer44) NC_000010.11:71811362:CC:C p.(Arg803GlyfsTer44) NC_000010.11:71811363:C: Analogous +NM_001033855.3:c.1159_1184dup NP_001029027.1:p.Asp395fs NC_000010.11:14909302:TCATCAAAGAGATAGTCATCTTCCTC:TCATCAAAGAGATAGTCATCTTCCTCTCATCAAAGAGATAGTCATCTTCCTC p.(Asp395GlufsTer16) NC_000010.11:14909302:TCATCAAAGAGATAGTCATCTTCCTC:TCATCAAAGAGATAGTCATCTTCCTCTCATCAAAGAGATAGTCATCTTCCTC p.(Asp395GlufsTer16) ERR:SPDI Analogous +NM_001302960.2:c.13A>G NP_001289889.1:p.Ile5Val NC_000011.10:67483170:A:G p.(Ile5Val) NC_000011.10:67483170:A:G p.(Ile5Val) NC_000011.10:67483170:A:G Identity +NM_000127.3:c.276C>G NP_000118.2:p.Ile92Met NC_000008.11:118110770:G:C p.(Ile92Met) NC_000008.11:118110770:G:C p.(Ile92Met) NC_000008.11:118110770:G:C Identity +NM_000401.3:c.778G>T NP_000392.3:p.Asp260Tyr NC_000011.10:44114236:G:T p.(Asp260Tyr) NC_000011.10:44114236:G:T p.(Asp260Tyr) NC_000011.10:44114236:G:T Identity +NM_000136.3:c.1297del NP_000127.2:p.Arg433fs NC_000009.12:95111494:GGGGG:GGGG p.(Arg433ValfsTer14) NC_000009.12:95111494:GGGGG:GGGG p.(Arg433ValfsTer14) NC_000009.12:95111494:G: Analogous +NM_004304.5:c.566T>C NP_004295.2:p.Leu189Pro NC_000002.12:29920093:A:G p.(Leu189Pro) NC_000002.12:29920093:A:G p.(Leu189Pro) NC_000002.12:29920093:A:G Identity +NM_001349896.1:c.45G>A NP_001336825.1:p.Trp15Ter NC_000022.11:26479351:C:T p.(Trp15Ter) NC_000022.11:26479351:C:T p.(Trp15Ter) NC_000022.11:26479351:C:T Identity +NM_000222.3:c.2623G>A NP_000213.1:p.Val875Ile NC_000004.12:54736746:G:A p.(Val875Ile) NC_000004.12:54736746:G:A p.(Val875Ile) NC_000004.12:54736746:G:A Identity +NM_003482.4:c.1940C>T NP_003473.3:p.Pro647Leu NC_000012.12:49051742:G:A p.(Pro647Leu) NC_000012.12:49051742:G:A p.(Pro647Leu) NC_000012.12:49051742:G:A Identity +NM_001030311.3:c.1428del NP_001025482.1:p.Ser477fs NC_000002.12:181544714:GG:G p.(Ser477ValfsTer2) NC_000002.12:181544714:GG:G p.(Ser477ValfsTer2) NC_000002.12:181544714:G: Analogous +NM_000709.4:c.131_133dup NP_000700.1:p.Phe45Ter NC_000019.10:41410658:AGT:AGTAGT p.(Phe45Ter) NC_000019.10:41410658:AGT:AGTAGT p.(Phe45Ter) ERR:SPDI Identity +NM_000059.4:c.9946del NP_000050.3:p.Glu3316fs NC_000013.11:32398458:G: p.(Glu3316AsnfsTer2) NC_000013.11:32398458:G: p.(Glu3316AsnfsTer2) NC_000013.11:32398458:G: Analogous +NM_001127214.4:c.1333_1334del NP_001120686.1:p.Ser445fs NC_000016.10:89133226:AGAG:AG p.(Ser445CysfsTer9) NC_000016.10:89133226:AGAG:AG p.(Ser445CysfsTer9) NC_000016.10:89133228:AG: Analogous +NM_025114.4:c.5506del NP_079390.3:p.Ile1836fs NC_000012.12:88077776:TTTT:TTT p.(Ile1836TyrfsTer15) NC_000012.12:88077776:TTTT:TTT p.(Ile1836TyrfsTer15) NC_000012.12:88077776:T: Analogous +NM_000027.4:c.472del NP_000018.2:p.Trp158fs NC_000004.12:177438779:AA:A p.(Trp158GlyfsTer31) NC_000004.12:177438779:AA:A p.(Trp158GlyfsTer31) NC_000004.12:177438779:A: Analogous +NM_001122633.3:c.656_657del NP_001116105.2:p.Lys219fs NC_000002.12:210588089:AAAA:AA p.(Lys219SerfsTer9) NC_000002.12:210588089:AAAA:AA p.(Lys219SerfsTer9) NC_000002.12:210588091:AA: Analogous +NM_000098.3:c.1577del NP_000089.1:p.Gly526fs NC_000001.11:53211249:GG:G p.(Gly526ValfsTer6) NC_000001.11:53211249:GG:G p.(Gly526ValfsTer6) NC_000001.11:53211250:G: Analogous +NM_001042355.2:c.1199A>C NP_001035814.1:p.Gln400Pro NC_000016.10:50779733:A:C p.(Gln400Pro) NC_000016.10:50779733:A:C p.(Gln400Pro) NC_000016.10:50779733:A:C Identity +NM_000118.4:c.683C>T NP_000109.1:p.Ser228Leu NC_000009.12:127825700:G:A p.(Ser228Leu) NC_000009.12:127825700:G:A p.(Ser228Leu) NC_000009.12:127825700:G:A Identity +NM_138701.4:c.397delinsGGA NP_619646.1:p.Ser133fs NC_000007.14:40133201:A:TCC p.(Ser133GlyfsTer21) NC_000007.14:40133201:A:TCC p.(Ser133GlyfsTer21) NC_000007.14:40133201:A:TCC Analogous +NM_001351444.2:c.3776_3777insAA NP_001338373.1:p.Tyr1259Ter NC_000006.12:87257824:A:AAA p.(Tyr1259Ter) NC_000006.12:87257824:A:AA p.(Tyr1259Ter) NC_000006.12:87257825:AC:AA Identity +NM_000133.4:c.1359G>A NP_000124.1:p.Trp453Ter NC_000023.11:139562043:G:A p.(Trp453Ter) NC_000023.11:139562043:G:A p.(Trp453Ter) NC_000023.11:139562043:G:A Identity +NM_000110.4:c.1600_1610del NP_000101.2:p.Ser534fs NC_000001.11:97515855:ATTTCTACACTA:A p.(Ser534GlyfsTer13) NC_000001.11:97515855:ATTTCTACACTA:A p.(Ser534GlyfsTer13) NC_000001.11:97515855:ATTTCTACACT: Analogous +NM_001321732.2:c.461A>G NP_001308661.1:p.Tyr154Cys NC_000005.10:177514796:T:C p.(Tyr154Cys) NC_000005.10:177514796:T:C p.(Tyr154Cys) NC_000005.10:177514796:T:C Identity +NM_000401.3:c.1070C>T NP_000392.3:p.Ala357Val NC_000011.10:44126846:C:T p.(Ala357Val) NC_000011.10:44126846:C:T p.(Ala357Val) NC_000011.10:44126846:C:T Identity +NM_001399969.1:c.374_375delinsT NP_001386898.1:p.Ser125fs NC_000001.11:100214837:GG:A p.(Ser125PhefsTer7) NC_000001.11:100214837:GG:A p.(Ser125PhefsTer7) NC_000001.11:100214837:GG:A Analogous +NM_001363811.2:c.253G>T NP_001350740.1:p.Glu85Ter NC_000004.12:3489708:G:T p.(Glu85Ter) NC_000004.12:3489708:G:T p.(Glu85Ter) NC_000004.12:3489708:G:T Identity +NM_001142800.2:c.479del NP_001136272.1:p.Pro160fs NC_000006.12:65494931:GG:G p.(Pro160HisfsTer6) NC_000006.12:65494931:GG:G p.(Pro160HisfsTer6) NC_000006.12:65494931:G: Analogous +NM_001363850.1:c.1A>T NP_001350779.1:p.Met1Leu NC_000016.10:89508417:A:T p.(Met1Leu) NC_000016.10:89508417:A:T p.Met1? NC_000016.10:89508417:A:T Identity +NM_001363850.1:c.1676del NP_001350779.1:p.Lys559fs NC_000016.10:89550501:AAAAA:AAAA p.(Lys559ArgfsTer33) NC_000016.10:89550501:AAAAA:AAAA p.(Lys559ArgfsTer33) NC_000016.10:89550505:A: Analogous +NM_001170629.2:c.1658C>A NP_001164100.1:p.Ser553Ter NC_000014.9:21426185:G:T p.(Ser553Ter) NC_000014.9:21426185:G:T p.(Ser553Ter) NC_000014.9:21426185:G:T Identity +NM_001128227.3:c.2149C>T NP_001121699.1:p.Gln717Ter NC_000009.12:36217477:G:A p.(Gln717Ter) NC_000009.12:36217477:G:A p.(Gln717Ter) NC_000009.12:36217477:G:A Identity +NM_001308258.2:c.1877_1878del NP_001295187.1:p.Pro626fs NC_000003.12:149162768:CA: p.(Pro626ArgfsTer21) NC_000003.12:149162768:CA: p.(Pro626ArgfsTer21) NC_000003.12:149162768:CA: Analogous +NM_001349896.1:c.32C>G NP_001336825.1:p.Ser11Ter NC_000022.11:26481730:G:C p.(Ser11Ter) NC_000022.11:26481730:G:C p.(Ser11Ter) NC_000022.11:26481730:G:C Identity +NM_001023570.4:c.479_482del NP_001018864.2:p.Ile160fs NC_000003.12:121808920:TGAAT:T p.(Ile160ArgfsTer20) NC_000003.12:121808920:TGAAT:T p.(Ile160ArgfsTer20) NC_000003.12:121808920:TGAA: Analogous +NM_000183.3:c.1259G>A NP_000174.1:p.Trp420Ter NC_000002.12:26285440:G:A p.(Trp420Ter) NC_000002.12:26285440:G:A p.(Trp420Ter) NC_000002.12:26285440:G:A Identity +NM_022725.4:c.78G>A NP_073562.1:p.Trp26Ter NC_000011.10:22625732:C:T p.(Trp26Ter) NC_000011.10:22625732:C:T p.(Trp26Ter) NC_000011.10:22625732:C:T Identity +NM_024642.5:c.1060G>A NP_078918.3:p.Glu354Lys NC_000009.12:98836995:G:A p.(Glu354Lys) NC_000009.12:98836995:G:A p.(Glu354Lys) NC_000009.12:98836995:G:A Identity +NM_000183.3:c.184A>G NP_000174.1:p.Thr62Ala NC_000002.12:26263453:A:G p.(Thr62Ala) NC_000002.12:26263453:A:G p.(Thr62Ala) NC_000002.12:26263453:A:G Identity +NM_001363147.1:c.1183C>T NP_001350076.1:p.Gln395Ter NC_000005.10:71649176:C:T p.(Gln395Ter) NC_000005.10:71649176:C:T p.(Gln395Ter) NC_000005.10:71649176:C:T Identity +NM_015560.3:c.267G>A NP_056375.2:p.Trp89Ter NC_000003.12:193614956:G:A p.(Trp89Ter) NC_000003.12:193614956:G:A p.(Trp89Ter) NC_000003.12:193614956:G:A Identity +NM_001193300.2:c.2126C>T NP_001180229.1:p.Ala709Val NC_000001.11:156176836:C:T p.(Ala709Val) NC_000001.11:156176836:C:T p.(Ala709Val) NC_000001.11:156176836:C:T Identity +NM_000283.4:c.1684G>A NP_000274.3:p.Gly562Ser NC_000004.12:662202:G:A p.(Gly562Ser) NC_000004.12:662202:G:A p.(Gly562Ser) NC_000004.12:662202:G:A Identity +NM_018848.3:c.619del NP_061336.1:p.Gln207fs NC_000020.11:10412895:G: p.(Gln207LysfsTer4) NC_000020.11:10412895:G: p.(Gln207LysfsTer4) NC_000020.11:10412895:G: Analogous +NM_001244008.2:c.3046G>A NP_001230937.1:p.Asp1016Asn NC_000002.12:240747252:C:T p.(Asp1016Asn) NC_000002.12:240747252:C:T p.(Asp1016Asn) NC_000002.12:240747252:C:T Identity +NM_001244580.2:c.9775C>T NP_001231509.1:p.Arg3259Cys NC_000007.14:98992142:C:T p.(Arg3259Cys) NC_000007.14:98992142:C:T p.(Arg3259Cys) NC_000007.14:98992142:C:T Identity +NM_001287819.3:c.11T>G NP_001274748.1:p.Leu4Trp NC_000001.11:196608298:A:C p.(Leu4Trp) NC_000001.11:196608298:A:C p.(Leu4Trp) NC_000001.11:196608298:A:C Identity +NM_018848.3:c.1529G>A NP_061336.1:p.Trp510Ter NC_000020.11:10405430:C:T p.(Trp510Ter) NC_000020.11:10405430:C:T p.(Trp510Ter) NC_000020.11:10405430:C:T Identity +NM_001410739.1:c.4495A>G NP_001397668.1:p.Ser1499Gly NC_000002.12:27447612:T:C p.(Ser1499Gly) NC_000002.12:27447612:T:C p.(Ser1499Gly) NC_000002.12:27447612:T:C Identity +NM_001079846.1:c.5570A>G NP_001073315.1:p.Gln1857Arg NC_000016.10:3729362:T:C p.(Gln1857Arg) NC_000016.10:3729362:T:C p.(Gln1857Arg) NC_000016.10:3729362:T:C Identity +NM_001184772.3:c.629C>T NP_001171701.1:p.Ser210Leu NC_000023.11:130013400:C:T p.(Ser210Leu) NC_000023.11:130013400:C:T p.(Ser210Leu) NC_000023.11:130013400:C:T Identity +NM_001330437.2:c.1432A>G NP_001317366.1:p.Ile478Val NC_000012.12:112488482:A:G p.(Ile478Val) NC_000012.12:112488482:A:G p.(Ile478Val) NC_000012.12:112488482:A:G Identity +NM_001379180.1:c.785C>A NP_001366109.1:p.Thr262Asn NC_000014.9:76482693:C:A p.(Thr262Asn) NC_000014.9:76482693:C:A p.(Thr262Asn) NC_000014.9:76482693:C:A Identity +NM_000302.4:c.282_283del NP_000293.2:p.Val95fs NC_000001.11:11949885:GG: p.(Val95HisfsTer8) NC_000001.11:11949885:GG: p.(Val95HisfsTer8) NC_000001.11:11949885:GG: Analogous +NM_003185.4:c.2185C>T NP_003176.2:p.Gln729Ter NC_000020.11:62006547:G:A p.(Gln729Ter) NC_000020.11:62006547:G:A p.(Gln729Ter) NC_000020.11:62006547:G:A Identity +NM_001278055.2:c.5479G>T NP_001264984.1:p.Glu1827Ter NC_000013.11:23337955:C:A p.(Glu1827Ter) NC_000013.11:23337955:C:A p.(Glu1827Ter) NC_000013.11:23337955:C:A Identity +NM_001105243.2:c.218A>G NP_001098713.1:p.Asp73Gly NC_000023.11:100408379:T:C p.(Asp73Gly) NC_000023.11:100408379:T:C p.(Asp73Gly) NC_000023.11:100408379:T:C Identity +NM_001330576.2:c.1774G>A NP_001317505.1:p.Asp592Asn NC_000016.10:64947841:C:T p.(Asp592Asn) NC_000016.10:64947841:C:T p.(Asp592Asn) NC_000016.10:64947841:C:T Identity +NM_001278055.2:c.447del NP_001264984.1:p.Phe149fs NC_000013.11:23355723:AAA:AA p.(Phe149LeufsTer15) NC_000013.11:23355723:AAA:AA p.(Phe149LeufsTer15) NC_000013.11:23355723:A: Analogous +NM_001278055.2:c.5637del NP_001264984.1:p.Val1880fs NC_000013.11:23337797:A: p.(Val1880LeufsTer7) NC_000013.11:23337797:A: p.(Val1880LeufsTer7) NC_000013.11:23337797:A: Analogous +NM_003185.4:c.308A>G NP_003176.2:p.Gln103Arg NC_000020.11:62065502:T:C p.(Gln103Arg) NC_000020.11:62065502:T:C p.(Gln103Arg) NC_000020.11:62065502:T:C Identity +NM_000313.4:c.1187_1188delinsAA NP_000304.2:p.Ser396Lys NC_000003.12:93886470:GC:TT p.(Ser396Lys) NC_000003.12:93886470:GC:TT p.(Ser396Lys) NC_000003.12:93886470:GC:TT Identity +NM_001193640.2:c.1568_1575del NP_001180569.1:p.Ser523fs NC_000001.11:197421730:TCCACACCT:T p.(Ser523PhefsTer10) NC_000001.11:197421730:TCCACACCT:T p.(Ser523PhefsTer10) NC_000001.11:197421731:CCACACCT: Analogous +NM_000062.3:c.1127_1130dup NP_000053.2:p.Val378fs NC_000011.10:57611812:CCTTC:CCTTCCTTC p.(Val378PhefsTer48) NC_000011.10:57611812:CCTTC:CCTTCCTTC p.(Val378PhefsTer48) ERR:SPDI Analogous +NM_018190.4:c.1773del NP_060660.2:p.Asn592fs NC_000004.12:121828631:G: p.(Asn592ThrfsTer6) NC_000004.12:121828631:G: p.(Asn592ThrfsTer6) NC_000004.12:121828631:G: Analogous +NM_001171971.3:c.641A>T NP_001165442.1:p.Asp214Val NC_000010.11:84202980:A:T p.(Asp214Val) NC_000010.11:84202980:A:T p.(Asp214Val) NC_000010.11:84202980:A:T Identity +NM_015072.5:c.1114T>C NP_055887.3:p.Ser372Pro NC_000014.9:75732408:T:C p.(Ser372Pro) NC_000014.9:75732408:T:C p.(Ser372Pro) NC_000014.9:75732408:T:C Identity +NM_003816.3:c.2020G>T NP_003807.1:p.Glu674Ter NC_000008.11:39083024:G:T p.(Glu674Ter) NC_000008.11:39083024:G:T p.(Glu674Ter) NC_000008.11:39083024:G:T Identity +NM_001256789.3:c.4157G>T NP_001243718.1:p.Arg1386Leu NC_000023.11:49211424:C:A p.(Arg1386Leu) NC_000023.11:49211424:C:A p.(Arg1386Leu) NC_000023.11:49211424:C:A Identity +NM_000350.3:c.2843G>C NP_000341.2:p.Arg948Pro NC_000001.11:94046993:C:G p.(Arg948Pro) NC_000001.11:94046993:C:G p.(Arg948Pro) NC_000001.11:94046993:C:G Identity +NM_001301645.2:c.80C>T NP_001288574.1:p.Ser27Leu NC_000004.12:154744405:C:T p.(Ser27Leu) NC_000004.12:154744405:C:T p.(Ser27Leu) NC_000004.12:154744405:C:T Identity +NM_000350.3:c.5851T>C NP_000341.2:p.Ser1951Pro NC_000001.11:94008281:A:G p.(Ser1951Pro) NC_000001.11:94008281:A:G p.(Ser1951Pro) NC_000001.11:94008281:A:G Identity +NM_000329.3:c.1533T>A NP_000320.1:p.Ser511Arg NC_000001.11:68429844:A:T p.(Ser511Arg) NC_000001.11:68429844:A:T p.(Ser511Arg) NC_000001.11:68429844:A:T Identity +NM_000350.3:c.3832G>T NP_000341.2:p.Glu1278Ter NC_000001.11:94036769:C:A p.(Glu1278Ter) NC_000001.11:94036769:C:A p.(Glu1278Ter) NC_000001.11:94036769:C:A Identity +NM_001098.3:c.2275_2277del NP_001089.1:p.Asn759del NC_000022.11:41528543:CAAC:C p.(Asn759del) NC_000022.11:41528543:CAAC:C p.(Asn759del) NC_000022.11:41528544:AAC: Identity +NM_001201459.2:c.154G>C NP_001188388.1:p.Glu52Gln NC_000002.12:27378925:C:G p.(Glu52Gln) NC_000002.12:27378925:C:G p.(Glu52Gln) NC_000002.12:27378925:C:G Identity +NM_001195794.1:c.235A>T NP_001182723.1:p.Arg79Trp NC_000003.12:150972473:T:A p.(Arg79Trp) NC_000003.12:150972473:T:A p.(Arg79Trp) NC_000003.12:150972473:T:A Identity +NM_000272.5:c.341C>G NP_000263.2:p.Pro114Arg NC_000002.12:110169986:G:C p.(Pro114Arg) NC_000002.12:110169986:G:C p.(Pro114Arg) NC_000002.12:110169986:G:C Identity +NM_002098.6:c.68A>G NP_002089.4:p.Glu23Gly NC_000006.12:42194752:T:C p.(Glu23Gly) NC_000006.12:42194752:T:C p.(Glu23Gly) NC_000006.12:42194752:T:C Identity +NM_000409.5:c.430G>A NP_000400.2:p.Asp144Asn NC_000006.12:42178879:G:A p.(Asp144Asn) NC_000006.12:42178879:G:A p.(Asp144Asn) NC_000006.12:42178879:G:A Identity +NM_001195794.1:c.151_152delinsAT NP_001182723.1:p.Gly51Met NC_000003.12:150972556:CC:AT p.(Gly51Met) NC_000003.12:150972556:CC:AT p.(Gly51Met) NC_000003.12:150972556:CC:AT Identity +NM_000466.3:c.434_446delinsGC NP_000457.1:p.Val145fs NC_000007.14:92518166:TGATCAACCCAAA:GC p.(Val145GlyfsTer24) NC_000007.14:92518166:TGATCAACCCAAA:GC p.(Val145GlyfsTer24) NC_000007.14:92518166:TGATCAACCCAAA:GC Analogous +NM_000172.4:c.514C>G NP_000163.2:p.Arg172Gly NC_000003.12:50193816:C:G p.(Arg172Gly) NC_000003.12:50193816:C:G p.(Arg172Gly) NC_000003.12:50193816:C:G Identity +NM_000172.4:c.121G>A NP_000163.2:p.Gly41Arg NC_000003.12:50193146:G:A p.(Gly41Arg) NC_000003.12:50193146:G:A p.(Gly41Arg) NC_000003.12:50193146:G:A Identity +NM_001040428.4:c.391A>T NP_001035518.1:p.Lys131Ter NC_000014.9:88426345:A:T p.(Lys131Ter) NC_000014.9:88426345:A:T p.(Lys131Ter) NC_000014.9:88426345:A:T Identity +NM_001377523.1:c.1641A>T NP_001364452.1:p.Lys547Asn NC_000014.9:21348216:A:T p.(Lys547Asn) NC_000014.9:21348216:A:T p.(Lys547Asn) NC_000014.9:21348216:A:T Identity +NM_000350.3:c.1523G>C NP_000341.2:p.Arg508Pro NC_000001.11:94077720:C:G p.(Arg508Pro) NC_000001.11:94077720:C:G p.(Arg508Pro) NC_000001.11:94077720:C:G Identity +NM_014053.4:c.1519T>G NP_054772.1:p.Leu507Val NC_000001.11:212889250:T:G p.(Leu507Val) NC_000001.11:212889250:T:G p.(Leu507Val) NC_000001.11:212889250:T:G Identity +NM_000186.4:c.328G>C NP_000177.2:p.Ala110Pro NC_000001.11:196673939:G:C p.(Ala110Pro) NC_000001.11:196673939:G:C p.(Ala110Pro) NC_000001.11:196673939:G:C Identity +NM_001321135.2:c.430T>A NP_001308064.1:p.Tyr144Asn NC_000015.10:77028565:T:A p.(Tyr144Asn) NC_000015.10:77028565:T:A p.(Tyr144Asn) NC_000015.10:77028565:T:A Identity +NM_001354663.2:c.2232T>G NP_001341592.1:p.Phe744Leu NC_000003.12:193664983:T:G p.(Phe744Leu) NC_000003.12:193664983:T:G p.(Phe744Leu) NC_000003.12:193664983:T:G Identity +NM_001354663.2:c.2449delA NP_001341592.1:p.Lys817fs NC_000003.12:193667279:A: p.(Lys817ArgfsTer28) NC_000003.12:193667279:A: p.(Lys817ArgfsTer28) NC_000003.12:193667279:A: Analogous +NM_001171971.3:c.1115C>T NP_001165442.1:p.Pro372Leu NC_000010.11:84208324:C:T p.(Pro372Leu) NC_000010.11:84208324:C:T p.(Pro372Leu) NC_000010.11:84208324:C:T Identity +NM_001317990.2:c.1477G>T NP_001304919.1:p.Val493Phe NC_000019.10:4048029:C:A p.(Val493Phe) NC_000019.10:4048029:C:A p.(Val493Phe) NC_000019.10:4048029:C:A Identity +NM_001350929.2:c.13666G>A NP_001337858.1:p.Val4556Ile NC_000014.9:104941484:C:T p.(Val4556Ile) NC_000014.9:104941484:C:T p.(Val4556Ile) NC_000014.9:104941484:C:T Identity +NM_006796.3:c.1651C>T NP_006787.2:p.Arg551Ter NC_000018.10:12348284:G:A p.(Arg551Ter) NC_000018.10:12348284:G:A p.(Arg551Ter) NC_000018.10:12348284:G:A Identity +NM_000157.4:c.680A>T NP_000148.2:p.Asn227Ile NC_000001.11:155238214:T:A p.(Asn227Ile) NC_000001.11:155238214:T:A p.(Asn227Ile) NC_000001.11:155238214:T:A Identity +NM_021076.4:c.259T>C NP_066554.2:p.Cys87Arg NC_000022.11:29480520:T:C p.(Cys87Arg) NC_000022.11:29480520:T:C p.(Cys87Arg) NC_000022.11:29480520:T:C Identity +NM_000260.4:c.1955G>A NP_000251.3:p.Cys652Tyr NC_000011.10:77174774:G:A p.(Cys652Tyr) NC_000011.10:77174774:G:A p.(Cys652Tyr) NC_000011.10:77174774:G:A Identity +NM_001271440.2:c.626G>A NP_001258369.1:p.Ser209Asn NC_000021.9:44330835:C:T p.(Ser209Asn) NC_000021.9:44330835:C:T p.(Ser209Asn) NC_000021.9:44330835:C:T Identity +NM_001378761.1:c.3571G>T NP_001365690.1:p.Ala1191Ser NC_000011.10:121129883:G:T p.(Ala1191Ser) NC_000011.10:121129883:G:T p.(Ala1191Ser) NC_000011.10:121129883:G:T Identity +NM_001085487.3:c.2030A>G NP_001078956.1:p.Gln677Arg NC_000001.11:58667038:T:C p.(Gln677Arg) NC_000001.11:58667038:T:C p.(Gln677Arg) NC_000001.11:58667038:T:C Identity +NM_001164617.2:c.1406A>G NP_001158089.1:p.Asn469Ser NC_000023.11:133661805:T:C p.(Asn469Ser) NC_000023.11:133661805:T:C p.(Asn469Ser) NC_000023.11:133661805:T:C Identity +NM_178335.3:c.566A>G NP_848018.1:p.Glu189Gly NC_000003.12:191375178:A:G p.(Glu189Gly) NC_000003.12:191375178:A:G p.(Glu189Gly) NC_000003.12:191375178:A:G Identity +NM_001256850.1:c.72748C>T NP_001243779.1:p.Pro24250Ser NC_000002.12:178568460:G:A p.(Pro24250Ser) NC_000002.12:178568460:G:A p.(Pro24250Ser) NC_000002.12:178568460:G:A Identity +NM_001042646.3:c.1669A>G NP_001036111.1:p.Thr557Ala NC_000003.12:42202676:A:G p.(Thr557Ala) NC_000003.12:42202676:A:G p.(Thr557Ala) NC_000003.12:42202676:A:G Identity +NM_030632.3:c.4842G>A NP_085135.1:p.Met1614Ile NC_000018.10:33744689:G:A p.(Met1614Ile) NC_000018.10:33744689:G:A p.(Met1614Ile) NC_000018.10:33744689:G:A Identity +NM_001139466.1:c.1142A>G NP_001132938.1:p.Asn381Ser NC_000023.11:9705019:A:G p.(Asn381Ser) NC_000023.11:9705019:A:G p.(Asn381Ser) NC_000023.11:9705019:A:G Identity +NM_001372044.2:c.70G>T NP_001358973.1:p.Ala24Ser NC_000022.11:50674483:G:T p.(Ala24Ser) NC_000022.11:50674483:G:T p.(Ala24Ser) NC_000022.11:50674483:G:T Identity +NM_022153.2:c.719T>C NP_071436.1:p.Ile240Thr NC_000010.11:71751846:A:G p.(Ile240Thr) NC_000010.11:71751846:A:G p.(Ile240Thr) NC_000010.11:71751846:A:G Identity +NM_001039703.6:c.1314C>G NP_001034792.4:p.Asp438Glu NC_000001.11:146134257:G:C p.(Asp438Glu) NC_000001.11:146134257:G:C p.(Asp438Glu) NC_000001.11:146134257:G:C Identity +NM_014014.5:c.5869G>A NP_054733.2:p.Asp1957Asn NC_000002.12:96277600:C:T p.(Asp1957Asn) NC_000002.12:96277600:C:T p.(Asp1957Asn) NC_000002.12:96277600:C:T Identity +NM_001270974.2:c.6188C>T NP_001257903.1:p.Ala2063Val NC_000016.10:70955502:G:A p.(Ala2063Val) NC_000016.10:70955502:G:A p.(Ala2063Val) NC_000016.10:70955502:G:A Identity +NM_001354663.2:c.2060C>G NP_001341592.1:p.Ala687Gly NC_000003.12:193662894:C:G p.(Ala687Gly) NC_000003.12:193662894:C:G p.(Ala687Gly) NC_000003.12:193662894:C:G Identity +NM_000356.4:c.1253C>T NP_000347.2:p.Ala418Val NC_000005.10:150375158:C:T p.(Ala418Val) NC_000005.10:150375158:C:T p.(Ala418Val) NC_000005.10:150375158:C:T Identity +NM_145059.3:c.1337G>A NP_659496.2:p.Trp446Ter NC_000016.10:70471347:G:A p.(Trp446Ter) NC_000016.10:70471347:G:A p.(Trp446Ter) NC_000016.10:70471347:G:A Identity +NM_001318900.1:c.545A>G NP_001305829.1:p.His182Arg NC_000010.11:87061029:T:C p.(His182Arg) NC_000010.11:87061029:T:C p.(His182Arg) NC_000010.11:87061029:T:C Identity +NM_000093.5:c.4830_4831dup NP_000084.3:p.Ile1611fs NC_000009.12:134824727:AGAGA:AGAGAGA p.(Ile1611ArgfsTer9) NC_000009.12:134824727:AGAGA:AGAGAGA p.(Ile1611ArgfsTer9) ERR:SPDI Analogous +NM_000021.4:c.118G>A NP_000012.1:p.Asp40Asn NC_000014.9:73170826:G:A p.(Asp40Asn) NC_000014.9:73170826:G:A p.(Asp40Asn) NC_000014.9:73170826:G:A Identity +NM_001374385.1:c.2063A>G NP_001361314.1:p.Asp688Gly NC_000018.10:57669351:T:C p.(Asp688Gly) NC_000018.10:57669351:T:C p.(Asp688Gly) NC_000018.10:57669351:T:C Identity +NM_001261414.3:c.14G>A NP_001248343.1:p.Arg5Gln NC_000012.12:23896009:C:T p.(Arg5Gln) NC_000012.12:23896009:C:T p.(Arg5Gln) NC_000012.12:23896009:C:T Identity +NM_003108.4:c.647C>T NP_003099.1:p.Thr216Met NC_000002.12:5693367:C:T p.(Thr216Met) NC_000002.12:5693367:C:T p.(Thr216Met) NC_000002.12:5693367:C:T Identity +NM_001394062.1:c.4997G>A NP_001380991.1:p.Ser1666Asn NC_000001.11:39331584:G:A p.(Ser1666Asn) NC_000001.11:39331584:G:A p.(Ser1666Asn) NC_000001.11:39331584:G:A Identity +NM_004004.6:c.292C>G NP_003995.2:p.Arg98Gly NC_000013.11:20189289:G:C p.(Arg98Gly) NC_000013.11:20189289:G:C p.(Arg98Gly) NC_000013.11:20189289:G:C Identity +NM_001173466.2:c.281del NP_001166937.1:p.Asn94fs NC_000012.12:53315752:TTT:TT p.(Asn94MetfsTer14) NC_000012.12:53315752:TTT:TT p.(Asn94MetfsTer14) NC_000012.12:53315752:T: Analogous +NM_000425.5:c.670C>T NP_000416.1:p.Pro224Ser NC_000023.11:153870813:G:A p.(Pro224Ser) NC_000023.11:153870813:G:A p.(Pro224Ser) NC_000023.11:153870813:G:A Identity +NM_017934.7:c.2233GAA[2] NP_060404.4:p.Glu747del NC_000006.12:78990945:TTCTTCTTCT:TTCTTCT p.(Glu747del) NC_000006.12:78990953:C:TTCTTC ERR:Parse ERR:Parse Identity +NM_001242466.2:c.641G>A NP_001229395.1:p.Arg214Lys NC_000005.10:68295308:G:A p.(Arg214Lys) NC_000005.10:68295308:G:A p.(Arg214Lys) NC_000005.10:68295308:G:A Identity +NM_012452.3:c.490T>C NP_036584.1:p.Tyr164His NC_000017.11:16940466:A:G p.(Tyr164His) NC_000017.11:16940466:A:G p.(Tyr164His) NC_000017.11:16940466:A:G Identity +NM_001005271.3:c.3717G>A NP_001005271.2:p.Met1239Ile NC_000017.11:7903315:G:A p.(Met1239Ile) NC_000017.11:7903315:G:A p.(Met1239Ile) NC_000017.11:7903315:G:A Identity +NM_000103.4:c.376G>A NP_000094.2:p.Gly126Ser NC_000015.10:51227853:C:T p.(Gly126Ser) NC_000015.10:51227853:C:T p.(Gly126Ser) NC_000015.10:51227853:C:T Identity +NM_005188.4:c.502A>G NP_005179.2:p.Ile168Val NC_000011.10:119271792:A:G p.(Ile168Val) NC_000011.10:119271792:A:G p.(Ile168Val) NC_000011.10:119271792:A:G Identity +NM_001242875.3:c.1457A>T NP_001229804.1:p.Lys486Ile NC_000018.10:36154985:A:T p.(Lys486Ile) NC_000018.10:36154985:A:T p.(Lys486Ile) NC_000018.10:36154985:A:T Identity +NM_153252.5:c.3890C>G NP_694984.5:p.Ser1297Cys NC_000023.11:80686977:G:C p.(Ser1297Cys) NC_000023.11:80686977:G:C p.(Ser1297Cys) NC_000023.11:80686977:G:C Identity +NM_001207000.1:c.650T>G NP_001193929.1:p.Leu217Trp NC_000004.12:82428141:A:C p.(Leu217Trp) NC_000004.12:82428141:A:C p.(Leu217Trp) NC_000004.12:82428141:A:C Identity +NM_001170649.2:c.1189A>T NP_001164120.1:p.Ile397Phe NC_000023.11:65524115:T:A p.(Ile397Phe) NC_000023.11:65524115:T:A p.(Ile397Phe) NC_000023.11:65524115:T:A Identity +NM_001005366.2:c.1748G>C NP_001005366.1:p.Arg583Pro NC_000012.12:121453237:C:G p.(Arg583Pro) NC_000012.12:121453237:C:G p.(Arg583Pro) NC_000012.12:121453237:C:G Identity +NM_001164766.2:c.7694C>A NP_001158238.1:p.Ala2565Glu NC_000016.10:72787839:G:T p.(Ala2565Glu) NC_000016.10:72787839:G:T p.(Ala2565Glu) NC_000016.10:72787839:G:T Identity +NM_001079846.1:c.5207G>A NP_001073315.1:p.Arg1736His NC_000016.10:3729725:C:T p.(Arg1736His) NC_000016.10:3729725:C:T p.(Arg1736His) NC_000016.10:3729725:C:T Identity +NM_001378761.1:c.1451C>T NP_001365690.1:p.Thr484Ile NC_000011.10:121113078:C:T p.(Thr484Ile) NC_000011.10:121113078:C:T p.(Thr484Ile) NC_000011.10:121113078:C:T Identity +NM_001357.5:c.2282G>A NP_001348.2:p.Arg761Gln NC_000001.11:182878103:G:A p.(Arg761Gln) NC_000001.11:182878103:G:A p.(Arg761Gln) NC_000001.11:182878103:G:A Identity +NM_001265612.2:c.6949C>G NP_001252541.1:p.Leu2317Val NC_000016.10:58521270:G:C p.(Leu2317Val) NC_000016.10:58521270:G:C p.(Leu2317Val) NC_000016.10:58521270:G:C Identity +NM_003922.4:c.1585G>A NP_003913.3:p.Asp529Asn NC_000015.10:63755273:C:T p.(Asp529Asn) NC_000015.10:63755273:C:T p.(Asp529Asn) NC_000015.10:63755273:C:T Identity +NM_001293306.2:c.2903G>C NP_001280235.2:p.Arg968Thr NC_000003.12:38726789:C:G p.(Arg968Thr) NC_000003.12:38726789:C:G p.(Arg968Thr) NC_000003.12:38726789:C:G Identity +NM_001080976.3:c.557G>T NP_001074445.1:p.Gly186Val NC_000006.12:116426713:G:T p.(Gly186Val) NC_000006.12:116426713:G:T p.(Gly186Val) NC_000006.12:116426713:G:T Identity +NM_001300899.2:c.1666C>T NP_001287828.1:p.Arg556Ter NC_000006.12:75862714:C:T p.(Arg556Ter) NC_000006.12:75862714:C:T p.(Arg556Ter) NC_000006.12:75862714:C:T Identity +NM_001039469.3:c.2255T>C NP_001034558.2:p.Val752Ala NC_000011.10:63909124:T:C p.(Val752Ala) NC_000011.10:63909124:T:C p.(Val752Ala) NC_000011.10:63909124:T:C Identity +NM_001407571.1:c.528del NP_001394500.1:p.Asn176fs NC_000017.11:43094789:G: p.(Asn176LysfsTer51) NC_000017.11:43094789:G: p.(Asn176LysfsTer51) NC_000017.11:43094789:G: Analogous +NM_001204197.3:c.497A>C NP_001191126.1:p.Tyr166Ser NC_000013.11:35583979:A:C p.(Tyr166Ser) NC_000013.11:35583979:A:C p.(Tyr166Ser) NC_000013.11:35583979:A:C Identity +NM_000495.5:c.358G>A NP_000486.1:p.Gly120Ser NC_000023.11:108568794:G:A p.(Gly120Ser) NC_000023.11:108568794:G:A p.(Gly120Ser) NC_000023.11:108568794:G:A Identity +NM_001193416.3:c.632_634delinsA NP_001180345.1:p.Ile211fs NC_000023.11:41343303:TTC:A p.(Ile211AsnfsTer83) NC_000023.11:41343303:TTC:A p.(Ile211AsnfsTer83) NC_000023.11:41343303:TTC:A Analogous +NM_001326559.2:c.1567G>A NP_001313488.2:p.Asp523Asn NC_000002.12:219633903:G:A p.(Asp523Asn) NC_000002.12:219633903:G:A p.(Asp523Asn) NC_000002.12:219633903:G:A Identity +NM_000836.4:c.3854_3855del NP_000827.2:p.Arg1285fs NC_000019.10:48443775:GCGCGC:GCGC p.(Arg1285GlnfsTer46) NC_000019.10:48443775:GCGCGC:GCGC p.(Arg1285GlnfsTer46) NC_000019.10:48443779:GC: Analogous +NM_000495.5:c.4136G>T NP_000486.1:p.Gly1379Val NC_000023.11:108681825:G:T p.(Gly1379Val) NC_000023.11:108681825:G:T p.(Gly1379Val) NC_000023.11:108681825:G:T Identity +NM_000533.5:c.656T>G NP_000524.3:p.Val219Gly NC_000023.11:103788469:T:G p.(Val219Gly) NC_000023.11:103788469:T:G p.(Val219Gly) NC_000023.11:103788469:T:G Identity +NM_032545.4:c.331G>A NP_115934.1:p.Gly111Ser NC_000002.12:130597898:C:T p.(Gly111Ser) NC_000002.12:130597898:C:T p.(Gly111Ser) NC_000002.12:130597898:C:T Identity +NM_000721.4:c.4066G>A NP_000712.2:p.Asp1356Asn NC_000001.11:181756031:G:A p.(Asp1356Asn) NC_000001.11:181756031:G:A p.(Asp1356Asn) NC_000001.11:181756031:G:A Identity +NM_001242581.2:c.1621C>T NP_001229510.1:p.Leu541Phe NC_000020.11:19975498:C:T p.(Leu541Phe) NC_000020.11:19975498:C:T p.(Leu541Phe) NC_000020.11:19975498:C:T Identity +NM_001145853.1:c.1405T>C NP_001139325.1:p.Ser469Pro NC_000004.12:6301199:T:C p.(Ser469Pro) NC_000004.12:6301199:T:C p.(Ser469Pro) NC_000004.12:6301199:T:C Identity +NM_000202.8:c.115_118dup NP_000193.1:p.Leu40fs NC_000023.11:149504278:GAACG:GAACGAACG p.(Leu40ArgfsTer8) NC_000023.11:149504278:GAACG:GAACGAACG p.(Leu40ArgfsTer8) ERR:SPDI Analogous +NM_001007792.1:c.2035G>C NP_001007793.1:p.Val679Leu NC_000001.11:156880094:G:C p.(Val679Leu) NC_000001.11:156880094:G:C p.(Val679Leu) NC_000001.11:156880094:G:C Identity +NM_001164098.2:c.1342G>C NP_001157570.1:p.Gly448Arg NC_000005.10:83519647:G:C p.(Gly448Arg) NC_000005.10:83519647:G:C p.(Gly448Arg) NC_000005.10:83519647:G:C Identity +NM_001253815.2:c.854C>T NP_001240744.1:p.Ala285Val NC_000008.11:144360345:C:T p.(Ala285Val) NC_000008.11:144360345:C:T p.(Ala285Val) NC_000008.11:144360345:C:T Identity +NM_000202.8:c.21_22insG NP_000193.1:p.Arg8fs NC_000023.11:149505116::C p.(Arg8AlafsTer39) NC_000023.11:149505115:G:C p.(Arg8AlafsTer39) NC_000023.11:149505116:GG:C Analogous +NM_000202.8:c.907T>C NP_000193.1:p.Ser303Pro NC_000023.11:149490412:A:G p.(Ser303Pro) NC_000023.11:149490412:A:G p.(Ser303Pro) NC_000023.11:149490412:A:G Identity +NM_000202.8:c.140T>C NP_000193.1:p.Leu47Pro NC_000023.11:149504256:A:G p.(Leu47Pro) NC_000023.11:149504256:A:G p.(Leu47Pro) NC_000023.11:149504256:A:G Identity +NM_000202.8:c.1348del NP_000193.1:p.Asp450fs NC_000023.11:149483050:CC:C p.(Asp450IlefsTer11) NC_000023.11:149483050:CC:C p.(Asp450IlefsTer11) NC_000023.11:149483050:C: Analogous +NM_032355.4:c.454C>T NP_115731.3:p.Arg152Cys NC_000003.12:49911684:G:A p.(Arg152Cys) NC_000003.12:49911684:G:A p.(Arg152Cys) NC_000003.12:49911684:G:A Identity +NM_001244808.3:c.1769G>C NP_001231737.1:p.Gly590Ala NC_000003.12:70966006:C:G p.(Gly590Ala) NC_000003.12:70966006:C:G p.(Gly590Ala) NC_000003.12:70966006:C:G Identity +NM_019066.5:c.1810A>G NP_061939.3:p.Met604Val NC_000015.10:23645932:T:C p.(Met604Val) NC_000015.10:23645932:T:C p.(Met604Val) NC_000015.10:23645932:T:C Identity +NM_001042537.2:c.367C>G NP_001036002.1:p.Pro123Ala NC_000023.11:135994826:C:G p.(Pro123Ala) NC_000023.11:135994826:C:G p.(Pro123Ala) NC_000023.11:135994826:C:G Identity +NM_001378183.1:c.3923G>A NP_001365112.1:p.Arg1308Lys NC_000018.10:10757968:C:T p.(Arg1308Lys) NC_000018.10:10757968:C:T p.(Arg1308Lys) NC_000018.10:10757968:C:T Identity +NM_000179.3:c.2222dup NP_000170.1:p.Asn741fs NC_000002.12:47800202:AAA:AAAA p.(Asn741LysfsTer15) NC_000002.12:47800202:AAA:AAAA p.(Asn741LysfsTer15) ERR:SPDI Analogous +NM_001256182.2:c.7234del NP_001243111.1:p.Gln2412fs NC_000016.10:89279307:GG:G p.(Gln2412SerfsTer79) NC_000016.10:89279307:GG:G p.(Gln2412SerfsTer79) NC_000016.10:89279307:G: Analogous +LRG_1426t1:c.5377C>T LRG_1426p1:p.Pro1793Ser NC_000016.10:3729669:G:A ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found ERR:AlignmentMapper(tx_ac=LRG_1426t1, alt_ac=LRG_1426t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1426t1, alt_ac=LRG_1426t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1426t1 not found +NM_022168.4:c.1571A>G NP_071451.2:p.Asn524Ser NC_000002.12:162280065:T:C p.(Asn524Ser) NC_000002.12:162280065:T:C p.(Asn524Ser) NC_000002.12:162280065:T:C Identity +NM_001349370.3:c.4414T>C NP_001336299.1:p.Cys1472Arg NC_000003.12:47116662:A:G p.(Cys1472Arg) NC_000003.12:47116662:A:G p.(Cys1472Arg) NC_000003.12:47116662:A:G Identity +NM_020699.4:c.948C>G NP_065750.1:p.Ile316Met NC_000001.11:153816540:G:C p.(Ile316Met) NC_000001.11:153816540:G:C p.(Ile316Met) NC_000001.11:153816540:G:C Identity +NM_020638.3:c.124C>G NP_065689.1:p.Leu42Val NC_000012.12:4379458:G:C p.(Leu42Val) NC_000012.12:4379458:G:C p.(Leu42Val) NC_000012.12:4379458:G:C Identity +NM_013254.4:c.608A>G NP_037386.1:p.Asp203Gly NC_000012.12:64474296:A:G p.(Asp203Gly) NC_000012.12:64474296:A:G p.(Asp203Gly) NC_000012.12:64474296:A:G Identity +NM_001265612.2:c.3619C>G NP_001252541.1:p.His1207Asp NC_000016.10:58547570:G:C p.(His1207Asp) NC_000016.10:58547570:G:C p.(His1207Asp) NC_000016.10:58547570:G:C Identity +NM_017780.4:c.6065G>C NP_060250.2:p.Cys2022Ser NC_000008.11:60852667:G:C p.(Cys2022Ser) NC_000008.11:60852667:G:C p.(Cys2022Ser) NC_000008.11:60852667:G:C Identity +NM_001286834.3:c.746G>T NP_001273763.1:p.Arg249Ile NC_000002.12:3545821:C:A p.(Arg249Ile) NC_000002.12:3545821:C:A p.(Arg249Ile) NC_000002.12:3545821:C:A Identity +NM_001126131.2:c.2042T>C NP_001119603.1:p.Leu681Pro NC_000015.10:89324134:A:G p.(Leu681Pro) NC_000015.10:89324134:A:G p.(Leu681Pro) NC_000015.10:89324134:A:G Identity +NM_001363734.1:c.3482C>T NP_001350663.1:p.Ser1161Phe NC_000020.11:32436376:C:T p.(Ser1161Phe) NC_000020.11:32436376:C:T p.(Ser1161Phe) NC_000020.11:32436376:C:T Identity +NM_001256324.2:c.4726T>C NP_001243253.1:p.Tyr1576His NC_000017.11:50615380:T:C p.(Tyr1576His) NC_000017.11:50615380:T:C p.(Tyr1576His) NC_000017.11:50615380:T:C Identity +NM_001099952.4:c.1533A>T NP_001093422.2:p.Arg511Ser NC_000003.12:4663184:A:T p.(Arg511Ser) NC_000003.12:4663184:A:T p.(Arg511Ser) NC_000003.12:4663184:A:T Identity +NM_001166695.3:c.1153C>T NP_001160167.1:p.Arg385Cys NC_000005.10:36680452:C:T p.(Arg385Cys) NC_000005.10:36680452:C:T p.(Arg385Cys) NC_000005.10:36680452:C:T Identity +NM_001400512.1:c.116T>C NP_001387441.1:p.Met39Thr NC_000023.11:150462790:T:C p.(Met39Thr) NC_000023.11:150462790:T:C p.(Met39Thr) NC_000023.11:150462790:T:C Identity +NM_001164507.2:c.926C>T NP_001157979.2:p.Thr309Ile NC_000002.12:151710434:G:A p.(Thr309Ile) NC_000002.12:151710434:G:A p.(Thr309Ile) NC_000002.12:151710434:G:A Identity +NM_178857.6:c.2065C>T NP_849188.4:p.Pro689Ser NC_000008.11:10612032:G:A p.(Pro689Ser) NC_000008.11:10612032:G:A p.(Pro689Ser) NC_000008.11:10612032:G:A Identity +NM_001256012.3:c.4621C>T NP_001242941.1:p.Arg1541Ter NC_000017.11:8492346:G:A p.(Arg1541Ter) NC_000017.11:8492346:G:A p.(Arg1541Ter) NC_000017.11:8492346:G:A Identity +NM_000091.5:c.3224T>G NP_000082.2:p.Leu1075Arg NC_000002.12:227293203:T:G p.(Leu1075Arg) NC_000002.12:227293203:T:G p.(Leu1075Arg) NC_000002.12:227293203:T:G Identity +NM_001278649.3:c.767C>G NP_001265578.1:p.Pro256Arg NC_000020.11:62286628:C:G p.(Pro256Arg) NC_000020.11:62286628:C:G p.(Pro256Arg) NC_000020.11:62286628:C:G Identity +NM_001371656.1:c.1569C>A NP_001358585.1:p.Tyr523Ter NC_000006.12:156779248:C:A p.(Tyr523Ter) NC_000006.12:156779248:C:A p.(Tyr523Ter) NC_000006.12:156779248:C:A Identity +NM_001252100.2:c.3994A>T NP_001239029.1:p.Met1332Leu NC_000001.11:200979700:T:A p.(Met1332Leu) NC_000001.11:200979700:T:A p.(Met1332Leu) NC_000001.11:200979700:T:A Identity +NM_001270399.2:c.389C>T NP_001257328.1:p.Thr130Met NC_000012.12:49185976:G:A p.(Thr130Met) NC_000012.12:49185976:G:A p.(Thr130Met) NC_000012.12:49185976:G:A Identity +NM_001303496.3:c.535G>T NP_001290425.1:p.Glu179Ter NC_000007.14:93135436:C:A p.(Glu179Ter) NC_000007.14:93135436:C:A p.(Glu179Ter) NC_000007.14:93135436:C:A Identity +NM_001407682.1:c.1288_1289insA NP_001394611.1:p.Leu430fs NC_000017.11:43094119::T p.(Leu430HisfsTer9) NC_000017.11:43094118:A:T p.(Leu430HisfsTer9) NC_000017.11:43094119:AG:T Analogous +NM_001353229.2:c.340_349del NP_001340158.1:p.His114fs NC_000017.11:17226222:GCTGGGGGTGGCTGGGG:GCTGGGG p.(His114SerfsTer13) NC_000017.11:17226222:GCTGGGGGTGGCTGGGG:GCTGGGG p.(His114SerfsTer13) NC_000017.11:17226222:GCTGGGGGTG: Analogous +NM_001348250.2:c.1097_1098delinsCT NP_001335179.1:p.Leu366Pro NC_000003.12:11028752:TG:CT p.(Leu366Pro) NC_000003.12:11028752:TG:CT p.(Leu366Pro) NC_000003.12:11028752:TG:CT Identity +NM_001077365.2:c.1390dup NP_001070833.1:p.Trp464fs NC_000009.12:131518860:T:TT p.(Trp464LeufsTer74) NC_000009.12:131518860:T:TT p.(Trp464LeufsTer74) ERR:SPDI Analogous +NM_000484.4:c.752G>T NP_000475.1:p.Gly251Val NC_000021.9:26021952:C:A p.(Gly251Val) NC_000021.9:26021952:C:A p.(Gly251Val) NC_000021.9:26021952:C:A Identity +NM_001366177.2:c.7036dup NP_001353106.1:p.Gln2346fs NC_000001.11:155357349:GGGGGG:GGGGGGG p.(Gln2346ProfsTer11) NC_000001.11:155357349:GGGGGG:GGGGGGG p.(Gln2346ProfsTer11) ERR:SPDI Analogous +NM_001386500.1:c.221T>C NP_001373429.1:p.Leu74Ser NC_000001.11:11258534:A:G p.(Leu74Ser) NC_000001.11:11258534:A:G p.(Leu74Ser) NC_000001.11:11258534:A:G Identity +NM_001244580.2:c.10880C>G NP_001231509.1:p.Thr3627Ser NC_000007.14:99008544:C:G p.(Thr3627Ser) NC_000007.14:99008544:C:G p.(Thr3627Ser) NC_000007.14:99008544:C:G Identity +NM_000844.4:c.342C>A NP_000835.1:p.Tyr114Ter NC_000003.12:6861729:C:A p.(Tyr114Ter) NC_000003.12:6861729:C:A p.(Tyr114Ter) NC_000003.12:6861729:C:A Identity +NM_000202.8:c.320_322del NP_000193.1:p.Ser107del NC_000023.11:149503407:AGGAG:AG p.(Ser107del) NC_000023.11:149503407:AGGAG:AG p.(Ser107del) NC_000023.11:149503407:AGG: Identity +NM_000202.8:c.353_369del NP_000193.1:p.Thr118fs NC_000023.11:149503360:GAAGTACTGGGGGATGG: p.(Thr118LysfsTer21) NC_000023.11:149503360:GAAGTACTGGGGGATGG: p.(Thr118LysfsTer21) NC_000023.11:149503360:GAAGTACTGGGGGATGG: Analogous +NM_001291285.3:c.13205C>T NP_001278214.1:p.Pro4402Leu NC_000004.12:125490023:C:T p.(Pro4402Leu) NC_000004.12:125490023:C:T p.(Pro4402Leu) NC_000004.12:125490023:C:T Identity +NM_001367479.1:c.8344C>T NP_001354408.1:p.Arg2782Ter NC_000001.11:225289956:C:T p.(Arg2782Ter) NC_000001.11:225289956:C:T p.(Arg2782Ter) NC_000001.11:225289956:C:T Identity +NM_001102397.3:c.281G>C NP_001095867.1:p.Arg94Pro NC_000001.11:23323646:C:G p.(Arg94Pro) NC_000001.11:23323646:C:G p.(Arg94Pro) NC_000001.11:23323646:C:G Identity +NM_001378183.1:c.3217C>T NP_001365112.1:p.Arg1073Trp NC_000018.10:10762531:G:A p.(Arg1073Trp) NC_000018.10:10762531:G:A p.(Arg1073Trp) NC_000018.10:10762531:G:A Identity +NM_005618.4:c.889C>T NP_005609.3:p.Pro297Ser NC_000006.12:170285396:G:A p.(Pro297Ser) NC_000006.12:170285396:G:A p.(Pro297Ser) NC_000006.12:170285396:G:A Identity +NM_000202.8:c.476A>C NP_000193.1:p.His159Pro NC_000023.11:149500979:T:G p.(His159Pro) NC_000023.11:149500979:T:G p.(His159Pro) NC_000023.11:149500979:T:G Identity +NM_000202.8:c.479C>T NP_000193.1:p.Pro160Leu NC_000023.11:149500976:G:A p.(Pro160Leu) NC_000023.11:149500976:G:A p.(Pro160Leu) NC_000023.11:149500976:G:A Identity +NM_000202.8:c.12_13del NP_000193.1:p.Arg5fs NC_000023.11:149505124:GGGG:GG p.(Arg5AspfsTer41) NC_000023.11:149505124:GGGG:GG p.(Arg5AspfsTer41) NC_000023.11:149505124:GG: Analogous +NM_000202.8:c.668T>A NP_000193.1:p.Val223Asp NC_000023.11:149498146:A:T p.(Val223Asp) NC_000023.11:149498146:A:T p.(Val223Asp) NC_000023.11:149498146:A:T Identity +NM_000202.8:c.1020_1021dup NP_000193.1:p.Glu341fs NC_000023.11:149487083:CAC:CACAC p.(Glu341ValfsTer20) NC_000023.11:149487083:CAC:CACAC p.(Glu341ValfsTer20) ERR:SPDI Analogous +NM_006734.4:c.2894G>C NP_006725.3:p.Arg965Pro NC_000006.12:142771844:C:G p.(Arg965Pro) NC_000006.12:142771844:C:G p.(Arg965Pro) NC_000006.12:142771844:C:G Identity +NM_001362843.2:c.5575C>T NP_001349772.1:p.Pro1859Ser NC_000022.11:41177363:C:T p.(Pro1859Ser) NC_000022.11:41177363:C:T p.(Pro1859Ser) NC_000022.11:41177363:C:T Identity +NM_000202.8:c.1288G>T NP_000193.1:p.Glu430Ter NC_000023.11:149483110:C:A p.(Glu430Ter) NC_000023.11:149483110:C:A p.(Glu430Ter) NC_000023.11:149483110:C:A Identity +NM_000202.8:c.1433del NP_000193.1:p.Asp478fs NC_000023.11:149482965:T: p.(Asp478AlafsTer5) NC_000023.11:149482965:T: p.(Asp478AlafsTer5) NC_000023.11:149482965:T: Analogous +NM_001008389.3:c.1633C>T NP_001008390.1:p.Gln545Ter NC_000016.10:20337397:G:A p.(Gln545Ter) NC_000016.10:20337397:G:A p.(Gln545Ter) NC_000016.10:20337397:G:A Identity +NM_021954.4:c.163A>G NP_068773.2:p.Asn55Asp NC_000013.11:20143125:T:C p.(Asn55Asp) NC_000013.11:20143125:T:C p.(Asn55Asp) NC_000013.11:20143125:T:C Identity +NM_001410772.1:c.792dup NP_001397701.1:p.Glu265Ter NC_000003.12:52405849:A:AA p.(Glu265Ter) NC_000003.12:52405849:A:AA p.(Glu265Ter) ERR:SPDI Identity +NM_005598.4:c.106G>A NP_005589.1:p.Gly36Arg NC_000001.11:160370836:G:A p.(Gly36Arg) NC_000001.11:160370836:G:A p.(Gly36Arg) NC_000001.11:160370836:G:A Identity +NM_001386421.1:c.2710_2713del NP_001373350.1:p.Asp904fs NC_000003.12:45966620:TGTCTGT:TGT p.(Asp904GlnfsTer11) NC_000003.12:45966620:TGTCTGT:TGT p.(Asp904GlnfsTer11) NC_000003.12:45966620:TGTC: Analogous +NM_001291088.2:c.1835T>G NP_001278017.1:p.Phe612Cys NC_000019.10:37893867:A:C p.(Phe612Cys) NC_000019.10:37893867:A:C p.(Phe612Cys) NC_000019.10:37893867:A:C Identity +NM_005631.5:c.1900C>T NP_005622.1:p.Pro634Ser NC_000007.14:129211733:C:T p.(Pro634Ser) NC_000007.14:129211733:C:T p.(Pro634Ser) NC_000007.14:129211733:C:T Identity +NM_000548.3:c.3826_3828TCC[1] NP_000539.2:p.Ser1277del NC_000016.10:2082445:CTCCTCC:CTCC ERR:Data provider error: ValueError: Transcript NM_000548.3 not found ERR:Data provider error: ValueError: Transcript NM_000548.3 not found ERR:Parse ERR:Parse ERR:Data provider error: ValueError: Transcript NM_000548.3 not found +NM_007215.4:c.973C>T NP_009146.2:p.Arg325Ter NC_000017.11:64485864:G:A p.(Arg325Ter) NC_000017.11:64485864:G:A p.(Arg325Ter) NC_000017.11:64485864:G:A Identity +NM_001271.4:c.5295C>G NP_001262.3:p.Phe1765Leu NC_000015.10:93024512:C:G p.(Phe1765Leu) NC_000015.10:93024512:C:G p.(Phe1765Leu) NC_000015.10:93024512:C:G Identity +NM_001024845.3:c.292G>T NP_001020016.1:p.Val98Phe NC_000001.11:44009991:C:A p.(Val98Phe) NC_000001.11:44009991:C:A p.(Val98Phe) NC_000001.11:44009991:C:A Identity +NM_000495.5:c.3689dup NP_000486.1:p.Gly1232fs NC_000023.11:108668400:TTT:TTTT p.(Gly1232TrpfsTer20) NC_000023.11:108668400:TTT:TTTT p.(Gly1232TrpfsTer20) ERR:SPDI Analogous +NM_001413458.1:c.16G>A NP_001400387.1:p.Val6Met NC_000012.12:107092945:C:T p.(Val6Met) NC_000012.12:107092945:C:T p.(Val6Met) NC_000012.12:107092945:C:T Identity +NM_001330308.2:c.775C>G NP_001317237.1:p.Gln259Glu NC_000011.10:65345760:C:G p.(Gln259Glu) NC_000011.10:65345760:C:G p.(Gln259Glu) NC_000011.10:65345760:C:G Identity +NM_001347839.2:c.2359A>C NP_001334768.1:p.Thr787Pro NC_000012.12:45850481:A:C p.(Thr787Pro) NC_000012.12:45850481:A:C p.(Thr787Pro) NC_000012.12:45850481:A:C Identity +NM_001030007.2:c.2033del NP_001025178.1:p.Pro678fs NC_000016.10:71739316:GGGG:GGG p.(Pro678LeufsTer41) NC_000016.10:71739316:GGGG:GGG p.(Pro678LeufsTer41) NC_000016.10:71739316:G: Analogous +NM_001923.5:c.496G>A NP_001914.3:p.Asp166Asn NC_000011.10:61329415:C:T p.(Asp166Asn) NC_000011.10:61329415:C:T p.(Asp166Asn) NC_000011.10:61329415:C:T Identity +NM_001411139.1:c.184T>C NP_001398068.1:p.Cys62Arg NC_000019.10:34438656:T:C p.(Cys62Arg) NC_000019.10:34438656:T:C p.(Cys62Arg) NC_000019.10:34438656:T:C Identity +NM_001256324.2:c.5384G>A NP_001243253.1:p.Arg1795Gln NC_000017.11:50618664:G:A p.(Arg1795Gln) NC_000017.11:50618664:G:A p.(Arg1795Gln) NC_000017.11:50618664:G:A Identity +NM_000059.4:c.8185A>T NP_000050.3:p.Lys2729Ter NC_000013.11:32363386:A:T p.(Lys2729Ter) NC_000013.11:32363386:A:T p.(Lys2729Ter) NC_000013.11:32363386:A:T Identity +NM_000179.3:c.2392dup NP_000170.1:p.Leu798fs NC_000002.12:47800373:CC:CCC p.(Leu798ProfsTer6) NC_000002.12:47800373:CC:CCC p.(Leu798ProfsTer6) ERR:SPDI Analogous +NM_001759.4:c.838A>C NP_001750.1:p.Thr280Pro NC_000012.12:4299976:A:C p.(Thr280Pro) NC_000012.12:4299976:A:C p.(Thr280Pro) NC_000012.12:4299976:A:C Identity +NM_001378418.1:c.5719C>T NP_001365347.1:p.Arg1907Ter NC_000022.11:42179638:G:A p.(Arg1907Ter) NC_000022.11:42179638:G:A p.(Arg1907Ter) NC_000022.11:42179638:G:A Identity +NM_001284351.3:c.650C>T NP_001271280.1:p.Ser217Leu NC_000005.10:488340:G:A p.(Ser217Leu) NC_000005.10:488340:G:A p.(Ser217Leu) NC_000005.10:488340:G:A Identity +NM_001365310.2:c.390C>G NP_001352239.1:p.Tyr130Ter NC_000016.10:1432982:C:G p.(Tyr130Ter) NC_000016.10:1432982:C:G p.(Tyr130Ter) NC_000016.10:1432982:C:G Identity +NM_001003694.2:c.2362G>A NP_001003694.1:p.Val788Met NC_000003.12:9743627:G:A p.(Val788Met) NC_000003.12:9743627:G:A p.(Val788Met) NC_000003.12:9743627:G:A Identity +NM_017780.4:c.4842dup NP_060250.2:p.Val1615fs NC_000008.11:60842042:TT:TTT p.(Val1615CysfsTer17) NC_000008.11:60842042:TT:TTT p.(Val1615CysfsTer17) ERR:SPDI Analogous +NM_012213.3:c.667_668delinsT NP_036345.2:p.Asn223fs NC_000016.10:83908150:AA:T p.(Asn223SerfsTer5) NC_000016.10:83908146:AAAAAA:AAAAT p.(Asn223SerfsTer5) NC_000016.10:83908150:AA:T Analogous +NM_032108.4:c.279del NP_115484.2:p.Thr94fs NC_000019.10:4557189:GGGGGG:GGGGG p.(Thr94ArgfsTer11) NC_000019.10:4557189:GGGGGG:GGGGG p.(Thr94ArgfsTer11) NC_000019.10:4557189:G: Analogous +NM_000202.8:c.1294_1295dup NP_000193.1:p.Arg433fs NC_000023.11:149483103:CACA:CACACA p.(Arg433AlafsTer8) NC_000023.11:149483103:CACA:CACACA p.(Arg433AlafsTer8) ERR:SPDI Analogous +NM_000202.8:c.1439C>G NP_000193.1:p.Pro480Arg NC_000023.11:149482959:G:C p.(Pro480Arg) NC_000023.11:149482959:G:C p.(Pro480Arg) NC_000023.11:149482959:G:C Identity +NM_000202.8:c.1565T>C NP_000193.1:p.Leu522Pro NC_000023.11:149482833:A:G p.(Leu522Pro) NC_000023.11:149482833:A:G p.(Leu522Pro) NC_000023.11:149482833:A:G Identity +NM_000202.8:c.1608T>A NP_000193.1:p.Tyr536Ter NC_000023.11:149482790:A:T p.(Tyr536Ter) NC_000023.11:149482790:A:T p.(Tyr536Ter) NC_000023.11:149482790:A:T Identity +NM_001145138.2:c.4G>T NP_001138610.1:p.Asp2Tyr NC_000011.10:65662828:C:A p.(Asp2Tyr) NC_000011.10:65662828:C:A p.(Asp2Tyr) NC_000011.10:65662828:C:A Identity +NM_000296.4:c.7667A>C NP_000287.4:p.Gln2556Pro NC_000016.10:2106126:T:G p.(Gln2556Pro) NC_000016.10:2106126:T:G p.(Gln2556Pro) NC_000016.10:2106126:T:G Identity +NM_000296.4:c.6083A>G NP_000287.4:p.Tyr2028Cys NC_000016.10:2109083:T:C p.(Tyr2028Cys) NC_000016.10:2109083:T:C p.(Tyr2028Cys) NC_000016.10:2109083:T:C Identity +NM_001363823.2:c.1211del NP_001350752.1:p.Asn404fs NC_000002.12:32128446:AA:A p.(Asn404IlefsTer2) NC_000002.12:32128446:AA:A p.(Asn404IlefsTer2) NC_000002.12:32128447:A: Analogous +NM_001244580.2:c.10674G>T NP_001231509.1:p.Lys3558Asn NC_000007.14:99005310:G:T p.(Lys3558Asn) NC_000007.14:99005310:G:T p.(Lys3558Asn) NC_000007.14:99005310:G:T Identity +NM_001318509.2:c.190C>T NP_001305438.1:p.His64Tyr NC_000023.11:109683296:G:A p.(His64Tyr) NC_000023.11:109683296:G:A p.(His64Tyr) NC_000023.11:109683296:G:A Identity +NM_000495.5:c.2835_2836del NP_000486.1:p.Glu945fs NC_000023.11:108622742:GC: p.(Glu945AspfsTer65) NC_000023.11:108622742:GC: p.(Glu945AspfsTer65) NC_000023.11:108622742:GC: Analogous +NM_000540.3:c.13913G>T NP_000531.2:p.Gly4638Val NC_000019.10:38572184:G:T p.(Gly4638Val) NC_000019.10:38572184:G:T p.(Gly4638Val) NC_000019.10:38572184:G:T Identity +NM_000495.5:c.809G>T NP_000486.1:p.Gly270Val NC_000023.11:108580560:G:T p.(Gly270Val) NC_000023.11:108580560:G:T p.(Gly270Val) NC_000023.11:108580560:G:T Identity +NM_002458.3:c.897_898del NP_002449.2:p.Ala300fs NC_000011.10:1228682:GTGTG:GTG p.(Ala300HisfsTer23) NC_000011.10:1228682:GTGTG:GTG p.(Ala300HisfsTer23) NC_000011.10:1228685:TG: Analogous +NM_001351273.1:c.4562C>T NP_001338202.1:p.Ala1521Val NC_000019.10:1467865:C:T p.(Ala1521Val) NC_000019.10:1467865:C:T p.(Ala1521Val) NC_000019.10:1467865:C:T Identity +NM_001171087.3:c.2243A>G NP_001164558.1:p.Glu748Gly NC_000003.12:184352308:T:C p.(Glu748Gly) NC_000003.12:184352308:T:C p.(Glu748Gly) NC_000003.12:184352308:T:C Identity +NM_020433.5:c.1972G>C NP_065166.2:p.Ala658Pro NC_000020.11:44115702:C:G p.(Ala658Pro) NC_000020.11:44115702:C:G p.(Ala658Pro) NC_000020.11:44115702:C:G Identity +NM_000202.8:c.260G>A NP_000193.1:p.Ser87Asn NC_000023.11:149503469:C:T p.(Ser87Asn) NC_000023.11:149503469:C:T p.(Ser87Asn) NC_000023.11:149503469:C:T Identity +NM_000202.8:c.640del NP_000193.1:p.Thr214fs NC_000023.11:149498174:TTTT:TTT p.(Thr214ArgfsTer66) NC_000023.11:149498174:TTTT:TTT p.(Thr214ArgfsTer66) NC_000023.11:149498174:T: Analogous +NM_000202.8:c.662T>C NP_000193.1:p.Leu221Pro NC_000023.11:149498152:A:G p.(Leu221Pro) NC_000023.11:149498152:A:G p.(Leu221Pro) NC_000023.11:149498152:A:G Identity +NM_000602.5:c.1114C>G NP_000593.1:p.Pro372Ala NC_000007.14:101137026:C:G p.(Pro372Ala) NC_000007.14:101137026:C:G p.(Pro372Ala) NC_000007.14:101137026:C:G Identity +NM_004523.4:c.463_475delinsATAGA NP_004514.2:p.Ser155fs NC_000010.11:92609094:TCAGTCAAAGTGT:ATAGA p.(Ser155IlefsTer8) NC_000010.11:92609093:TTCAGTCAAAGTGT:TATAGA p.(Ser155IlefsTer8) NC_000010.11:92609094:TCAGTCAAAGTGT:ATAGA Analogous +NM_000202.8:c.939_954del NP_000193.1:p.Leu314fs NC_000023.11:149490365:CAAAGCACTCAAGAGGC:C p.(Leu314ThrfsTer21) NC_000023.11:149490365:CAAAGCACTCAAGAGGC:C p.(Leu314ThrfsTer21) NC_000023.11:149490365:CAAAGCACTCAAGAGG: Analogous +NM_000202.8:c.1266C>A NP_000193.1:p.Cys422Ter NC_000023.11:149483132:G:T p.(Cys422Ter) NC_000023.11:149483132:G:T p.(Cys422Ter) NC_000023.11:149483132:G:T Identity +NM_000202.8:c.1377del NP_000193.1:p.Glu459fs NC_000023.11:149483021:TT:T p.(Glu459AspfsTer2) NC_000023.11:149483021:TT:T p.(Glu459AspfsTer2) NC_000023.11:149483021:T: Analogous +NM_001032295.2:c.1375G>C NP_001027466.1:p.Ala459Pro NC_000011.10:57614452:G:C p.(Ala459Pro) NC_000011.10:57614452:G:C p.(Ala459Pro) NC_000011.10:57614452:G:C Identity +NM_001142864.4:c.7447G>A NP_001136336.2:p.Asp2483Asn NC_000016.10:88715723:C:T p.(Asp2483Asn) NC_000016.10:88715723:C:T p.(Asp2483Asn) NC_000016.10:88715723:C:T Identity +NM_014975.3:c.1762T>G NP_055790.1:p.Phe588Val NC_000019.10:12865438:T:G p.(Phe588Val) NC_000019.10:12865438:T:G p.(Phe588Val) NC_000019.10:12865438:T:G Identity +NM_001692.4:c.574C>A NP_001683.2:p.Pro192Thr NC_000002.12:70960066:C:A p.(Pro192Thr) NC_000002.12:70960066:C:A p.(Pro192Thr) NC_000002.12:70960066:C:A Identity +NM_003482.4:c.2224C>T NP_003473.3:p.His742Tyr NC_000012.12:49051458:G:A p.(His742Tyr) NC_000012.12:49051458:G:A p.(His742Tyr) NC_000012.12:49051458:G:A Identity +NM_006662.3:c.3395C>T NP_006653.2:p.Thr1132Ile NC_000016.10:30721329:C:T p.(Thr1132Ile) NC_000016.10:30721329:C:T p.(Thr1132Ile) NC_000016.10:30721329:C:T Identity +NM_017780.4:c.5210A>G NP_060250.2:p.Lys1737Arg NC_000008.11:60845408:A:G p.(Lys1737Arg) NC_000008.11:60845408:A:G p.(Lys1737Arg) NC_000008.11:60845408:A:G Identity +NM_015574.2:c.71C>A NP_056389.1:p.Ala24Glu NC_000004.12:73258597:G:T p.(Ala24Glu) NC_000004.12:73258597:G:T p.(Ala24Glu) NC_000004.12:73258597:G:T Identity +NM_001300907.1:c.503C>T NP_001287836.1:p.Ala168Val NC_000011.10:68167136:G:A p.(Ala168Val) NC_000011.10:68167136:G:A p.(Ala168Val) NC_000011.10:68167136:G:A Identity +NM_001270507.2:c.503G>A NP_001257436.1:p.Trp168Ter NC_000006.12:137875703:G:A p.(Trp168Ter) NC_000006.12:137875703:G:A p.(Trp168Ter) NC_000006.12:137875703:G:A Identity +NM_001304815.2:c.5935_5953del NP_001291744.1:p.Val1979fs NC_000019.10:42292597:GTGGGCGTGTCACCTGTGC: p.(Val1979ProfsTer17) NC_000019.10:42292597:GTGGGCGTGTCACCTGTGC: p.(Val1979ProfsTer17) NC_000019.10:42292597:GTGGGCGTGTCACCTGTGC: Analogous +NM_001079539.2:c.1094_1095del NP_001073007.1:p.Phe365fs NC_000022.11:28795210:AAAA:AA p.(Phe365CysfsTer3) NC_000022.11:28795210:AAAA:AA p.(Phe365CysfsTer3) NC_000022.11:28795210:AA: Analogous +NM_006236.3:c.875C>A NP_006227.1:p.Pro292Gln NC_000002.12:104856384:C:A p.(Pro292Gln) NC_000002.12:104856384:C:A p.(Pro292Gln) NC_000002.12:104856384:C:A Identity +NM_001143760.1:c.505_506delinsAT NP_001137232.1:p.Ser169Ile NC_000017.11:7311589:TC:AT p.(Ser169Ile) NC_000017.11:7311589:TC:AT p.(Ser169Ile) NC_000017.11:7311589:TC:AT Identity +NM_001253723.2:c.692G>A NP_001240652.1:p.Arg231His NC_000002.12:26931661:G:A p.(Arg231His) NC_000002.12:26931661:G:A p.(Arg231His) NC_000002.12:26931661:G:A Identity +NM_004230.4:c.613A>T NP_004221.3:p.Ile205Phe NC_000019.10:10224292:T:A p.(Ile205Phe) NC_000019.10:10224292:T:A p.(Ile205Phe) NC_000019.10:10224292:T:A Identity +NM_012289.4:c.109G>T NP_036421.2:p.Glu37Ter NC_000019.10:10499924:C:A p.(Glu37Ter) NC_000019.10:10499924:C:A p.(Glu37Ter) NC_000019.10:10499924:C:A Identity +NM_005732.4:c.305G>T NP_005723.2:p.Cys102Phe NC_000005.10:132575867:G:T p.(Cys102Phe) NC_000005.10:132575867:G:T p.(Cys102Phe) NC_000005.10:132575867:G:T Identity +NM_001321809.2:c.863G>A NP_001308738.1:p.Gly288Glu NC_000014.9:68411432:G:A p.(Gly288Glu) NC_000014.9:68411432:G:A p.(Gly288Glu) NC_000014.9:68411432:G:A Identity +NM_001256850.1:c.59321G>A NP_001243779.1:p.Trp19774Ter NC_000002.12:178586656:C:T p.(Trp19774Ter) NC_000002.12:178586656:C:T p.(Trp19774Ter) NC_000002.12:178586656:C:T Identity +NM_001347997.2:c.2989G>A NP_001334926.1:p.Gly997Ser NC_000009.12:106926900:G:A p.(Gly997Ser) NC_000009.12:106926900:G:A p.(Gly997Ser) NC_000009.12:106926900:G:A Identity +NM_001008801.2:c.1132A>G NP_001008801.1:p.Thr378Ala NC_000019.10:52841161:T:C p.(Thr378Ala) NC_000019.10:52841161:T:C p.(Thr378Ala) NC_000019.10:52841161:T:C Identity +NM_001330622.2:c.1321G>A NP_001317551.1:p.Gly441Arg NC_000019.10:57291984:G:A p.(Gly441Arg) NC_000019.10:57291984:G:A p.(Gly441Arg) NC_000019.10:57291984:G:A Identity +NM_001330622.2:c.1411G>A NP_001317551.1:p.Val471Ile NC_000019.10:57292074:G:A p.(Val471Ile) NC_000019.10:57292074:G:A p.(Val471Ile) NC_000019.10:57292074:G:A Identity +NM_000321.3:c.2425_2435del NP_000312.2:p.Leu809fs NC_000013.11:48465301:CCCTGAAGAGTCC:CC p.(Leu809IlefsTer2) NC_000013.11:48465301:CCCTGAAGAGTCC:CC p.(Leu809IlefsTer2) NC_000013.11:48465303:CTGAAGAGTCC: Analogous +NM_001967.4:c.944T>C NP_001958.2:p.Ile315Thr NC_000003.12:186787528:T:C p.(Ile315Thr) NC_000003.12:186787528:T:C p.(Ile315Thr) NC_000003.12:186787528:T:C Identity +NM_003482.4:c.9127_9128del NP_003473.3:p.Asn3043fs NC_000012.12:49038227:TT: p.(Asn3043TrpfsTer5) NC_000012.12:49038227:TT: p.(Asn3043TrpfsTer5) NC_000012.12:49038227:TT: Analogous +NM_000059.4:c.7991_8004del NP_000050.3:p.Ile2664fs NC_000013.11:32363191:ATTGATAGAAGCAGA:A p.(Ile2664LysfsTer12) NC_000013.11:32363191:ATTGATAGAAGCAGA:A p.(Ile2664LysfsTer12) NC_000013.11:32363192:TTGATAGAAGCAGA: Analogous +NM_000546.6:c.420del NP_000537.3:p.Cys141fs NC_000017.11:7675191:GG:G p.(Cys141AlafsTer29) NC_000017.11:7675191:GG:G p.(Cys141AlafsTer29) NC_000017.11:7675191:G: Analogous +NM_006015.6:c.1011G>A NP_006006.3:p.Trp337Ter NC_000001.11:26697413:G:A p.(Trp337Ter) NC_000001.11:26697413:G:A p.(Trp337Ter) NC_000001.11:26697413:G:A Identity +NM_001376.5:c.12227G>A NP_001367.2:p.Gly4076Asp NC_000014.9:102042239:G:A p.(Gly4076Asp) NC_000014.9:102042239:G:A p.(Gly4076Asp) NC_000014.9:102042239:G:A Identity +NM_005815.5:c.475C>T NP_005806.3:p.His159Tyr NC_000019.10:12431696:G:A p.(His159Tyr) NC_000019.10:12431696:G:A p.(His159Tyr) NC_000019.10:12431696:G:A Identity +NM_001031623.3:c.2828T>G NP_001026794.1:p.Leu943Arg NC_000006.12:57152295:T:G p.(Leu943Arg) NC_000006.12:57152295:T:G p.(Leu943Arg) NC_000006.12:57152295:T:G Identity +NM_001347997.2:c.1422A>C NP_001334926.1:p.Glu474Asp NC_000009.12:106925333:A:C p.(Glu474Asp) NC_000009.12:106925333:A:C p.(Glu474Asp) NC_000009.12:106925333:A:C Identity +NM_207336.3:c.768G>C NP_997219.1:p.Lys256Asn NC_000007.14:149765733:C:G p.(Lys256Asn) NC_000007.14:149765733:C:G p.(Lys256Asn) NC_000007.14:149765733:C:G Identity +NM_001367624.2:c.1046G>A NP_001354553.1:p.Ser349Asn NC_000016.10:88428515:G:A p.(Ser349Asn) NC_000016.10:88428515:G:A p.(Ser349Asn) NC_000016.10:88428515:G:A Identity +NM_001363813.1:c.816G>T NP_001350742.1:p.Arg272Ser NC_000017.11:65549659:C:A p.(Arg272Ser) NC_000017.11:65549659:C:A p.(Arg272Ser) NC_000017.11:65549659:C:A Identity +NM_001370129.2:c.809C>T NP_001357058.1:p.Thr270Met NC_000007.14:57120605:G:A p.(Thr270Met) NC_000007.14:57120605:G:A p.(Thr270Met) NC_000007.14:57120605:G:A Identity +NM_001278599.2:c.1719C>A NP_001265528.1:p.Asp573Glu NC_000019.10:41259741:C:A p.(Asp573Glu) NC_000019.10:41259741:C:A p.(Asp573Glu) NC_000019.10:41259741:C:A Identity +NM_001367624.2:c.4339C>T NP_001354553.1:p.Pro1447Ser NC_000016.10:88431808:C:T p.(Pro1447Ser) NC_000016.10:88431808:C:T p.(Pro1447Ser) NC_000016.10:88431808:C:T Identity +NM_001367624.2:c.2381C>T NP_001354553.1:p.Ala794Val NC_000016.10:88429850:C:T p.(Ala794Val) NC_000016.10:88429850:C:T p.(Ala794Val) NC_000016.10:88429850:C:T Identity +NM_001367624.2:c.8719C>G NP_001354553.1:p.Arg2907Gly NC_000016.10:88436188:C:G p.(Arg2907Gly) NC_000016.10:88436188:C:G p.(Arg2907Gly) NC_000016.10:88436188:C:G Identity +NM_020714.3:c.130G>A NP_065765.1:p.Glu44Lys NC_000019.10:12609189:C:T p.(Glu44Lys) NC_000019.10:12609189:C:T p.(Glu44Lys) NC_000019.10:12609189:C:T Identity +NM_001185.4:c.377A>G NP_001176.1:p.Glu126Gly NC_000007.14:99968390:T:C p.(Glu126Gly) NC_000007.14:99968390:T:C p.(Glu126Gly) NC_000007.14:99968390:T:C Identity +NM_001367624.2:c.6260C>T NP_001354553.1:p.Ala2087Val NC_000016.10:88433729:C:T p.(Ala2087Val) NC_000016.10:88433729:C:T p.(Ala2087Val) NC_000016.10:88433729:C:T Identity +NM_020855.3:c.896A>C NP_065906.1:p.His299Pro NC_000019.10:22664564:A:C p.(His299Pro) NC_000019.10:22664564:A:C p.(His299Pro) NC_000019.10:22664564:A:C Identity +NM_001076678.3:c.658A>G NP_001070146.1:p.Ile220Val NC_000019.10:21423316:A:G p.(Ile220Val) NC_000019.10:21423316:A:G p.(Ile220Val) NC_000019.10:21423316:A:G Identity +NM_001367624.2:c.4096G>C NP_001354553.1:p.Val1366Leu NC_000016.10:88431565:G:C p.(Val1366Leu) NC_000016.10:88431565:G:C p.(Val1366Leu) NC_000016.10:88431565:G:C Identity +NM_207317.3:c.517C>T NP_997200.1:p.Arg173Cys NC_000005.10:122152506:C:T p.(Arg173Cys) NC_000005.10:122152506:C:T p.(Arg173Cys) NC_000005.10:122152506:C:T Identity +NM_001318140.2:c.1052A>G NP_001305069.1:p.Asn351Ser NC_000010.11:43617094:A:G p.(Asn351Ser) NC_000010.11:43617094:A:G p.(Asn351Ser) NC_000010.11:43617094:A:G Identity +NM_001297763.2:c.2005T>C NP_001284692.1:p.Cys669Arg NC_000019.10:40015352:T:C p.(Cys669Arg) NC_000019.10:40015352:T:C p.(Cys669Arg) NC_000019.10:40015352:T:C Identity +NM_003782.4:c.661G>A NP_003773.1:p.Glu221Lys NC_000006.12:33278079:G:A p.(Glu221Lys) NC_000006.12:33278079:G:A p.(Glu221Lys) NC_000006.12:33278079:G:A Identity +NM_001351678.2:c.1593T>G NP_001338607.1:p.Phe531Leu NC_000019.10:9467035:A:C p.(Phe531Leu) NC_000019.10:9467035:A:C p.(Phe531Leu) NC_000019.10:9467035:A:C Identity +NM_001317936.2:c.431C>T NP_001304865.1:p.Pro144Leu NC_000008.11:144807367:C:T p.(Pro144Leu) NC_000008.11:144807367:C:T p.(Pro144Leu) NC_000008.11:144807367:C:T Identity +NM_001375816.1:c.2344A>C NP_001362745.1:p.Asn782His NC_000004.12:10443984:T:G p.(Asn782His) NC_000004.12:10443984:T:G p.(Asn782His) NC_000004.12:10443984:T:G Identity +NM_001320767.2:c.1084T>C NP_001307696.1:p.Ser362Pro NC_000019.10:58261689:T:C p.(Ser362Pro) NC_000019.10:58261689:T:C p.(Ser362Pro) NC_000019.10:58261689:T:C Identity +NM_001352260.2:c.165C>G NP_001339189.1:p.Asn55Lys NC_000019.10:30443726:C:G p.(Asn55Lys) NC_000019.10:30443726:C:G p.(Asn55Lys) NC_000019.10:30443726:C:G Identity +NM_001199295.2:c.1825G>A NP_001186224.2:p.Gly609Arg NC_000019.10:57538828:G:A p.(Gly609Arg) NC_000019.10:57538828:G:A p.(Gly609Arg) NC_000019.10:57538828:G:A Identity +NM_001278524.2:c.3001C>T NP_001265453.1:p.Arg1001Cys NC_000010.11:96159322:C:T p.(Arg1001Cys) NC_000010.11:96159322:C:T p.(Arg1001Cys) NC_000010.11:96159322:C:T Identity +NM_001308225.2:c.1060G>A NP_001295154.1:p.Val354Ile NC_000018.10:25226197:C:T p.(Val354Ile) NC_000018.10:25226197:C:T p.(Val354Ile) NC_000018.10:25226197:C:T Identity +NM_001352260.2:c.1025C>T NP_001339189.1:p.Ala342Val NC_000019.10:30444586:C:T p.(Ala342Val) NC_000019.10:30444586:C:T p.(Ala342Val) NC_000019.10:30444586:C:T Identity +NM_001297763.2:c.826G>A NP_001284692.1:p.Glu276Lys NC_000019.10:40014173:G:A p.(Glu276Lys) NC_000019.10:40014173:G:A p.(Glu276Lys) NC_000019.10:40014173:G:A Identity +NM_173548.3:c.20C>T NP_775819.1:p.Ala7Val NC_000019.10:58409941:C:T p.(Ala7Val) NC_000019.10:58409941:C:T p.(Ala7Val) NC_000019.10:58409941:C:T Identity +NM_001330365.2:c.619A>G NP_001317294.1:p.Lys207Glu NC_000019.10:9610834:T:C p.(Lys207Glu) NC_000019.10:9610834:T:C p.(Lys207Glu) NC_000019.10:9610834:T:C Identity +NM_152289.3:c.81G>C NP_689502.2:p.Arg27Ser NC_000019.10:9618123:C:G p.(Arg27Ser) NC_000019.10:9618123:C:G p.(Arg27Ser) NC_000019.10:9618123:C:G Identity +NM_001330519.2:c.2492G>A NP_001317448.1:p.Ser831Asn NC_000019.10:42080827:G:A p.(Ser831Asn) NC_000019.10:42080827:G:A p.(Ser831Asn) NC_000019.10:42080827:G:A Identity +NM_001385619.1:c.3457A>G NP_001372548.1:p.Ile1153Val NC_000005.10:124646926:T:C p.(Ile1153Val) NC_000005.10:124646926:T:C p.(Ile1153Val) NC_000005.10:124646926:T:C Identity +NM_032530.2:c.2044T>C NP_115919.1:p.Cys682Arg NC_000017.11:5182212:A:G p.(Cys682Arg) NC_000017.11:5182212:A:G p.(Cys682Arg) NC_000017.11:5182212:A:G Identity +NM_015042.2:c.1120C>T NP_055857.1:p.Arg374Cys NC_000015.10:64673973:C:T p.(Arg374Cys) NC_000015.10:64673973:C:T p.(Arg374Cys) NC_000015.10:64673973:C:T Identity +NM_178523.5:c.791C>A NP_848618.2:p.Thr264Asn NC_000019.10:52116372:G:T p.(Thr264Asn) NC_000019.10:52116372:G:T p.(Thr264Asn) NC_000019.10:52116372:G:T Identity +NM_014699.4:c.1993C>T NP_055514.3:p.Arg665Trp NC_000016.10:31078316:C:T p.(Arg665Trp) NC_000016.10:31078316:C:T p.(Arg665Trp) NC_000016.10:31078316:C:T Identity +NM_138783.4:c.1249G>A NP_620138.2:p.Glu417Lys NC_000019.10:11487080:C:T p.(Glu417Lys) NC_000019.10:11487080:C:T p.(Glu417Lys) NC_000019.10:11487080:C:T Identity +NM_001172668.2:c.14C>T NP_001166139.1:p.Ala5Val NC_000016.10:31064445:G:A p.(Ala5Val) NC_000016.10:31064445:G:A p.(Ala5Val) NC_000016.10:31064445:G:A Identity +NM_001290083.2:c.1100C>T NP_001277012.1:p.Ala367Val NC_000019.10:11617698:C:T p.(Ala367Val) NC_000019.10:11617698:C:T p.(Ala367Val) NC_000019.10:11617698:C:T Identity +NM_001014972.3:c.4582T>G NP_001014972.1:p.Ser1528Ala NC_000002.12:71424706:T:G p.(Ser1528Ala) NC_000002.12:71424706:T:G p.(Ser1528Ala) NC_000002.12:71424706:T:G Identity +NM_001161499.2:c.1154T>C NP_001154971.1:p.Ile385Thr NC_000019.10:52705900:A:G p.(Ile385Thr) NC_000019.10:52705900:A:G p.(Ile385Thr) NC_000019.10:52705900:A:G Identity +NM_152601.4:c.743G>T NP_689814.1:p.Gly248Val NC_000019.10:12465178:C:A p.(Gly248Val) NC_000019.10:12465178:C:A p.(Gly248Val) NC_000019.10:12465178:C:A Identity +NM_133474.4:c.362T>G NP_597731.2:p.Phe121Cys NC_000004.12:444104:A:C p.(Phe121Cys) NC_000004.12:444104:A:C p.(Phe121Cys) NC_000004.12:444104:A:C Identity +NM_178537.5:c.2362G>T NP_848632.2:p.Asp788Tyr NC_000011.10:379574:G:T p.(Asp788Tyr) NC_000011.10:379574:G:T p.(Asp788Tyr) NC_000011.10:379574:G:T Identity +NM_153446.3:c.165T>G NP_703147.2:p.Phe55Leu NC_000017.11:49133189:T:G p.(Phe55Leu) NC_000017.11:49133189:T:G p.(Phe55Leu) NC_000017.11:49133189:T:G Identity +NM_021916.4:c.890G>A NP_068735.1:p.Arg297Gln NC_000022.11:23744250:C:T p.(Arg297Gln) NC_000022.11:23744250:C:T p.(Arg297Gln) NC_000022.11:23744250:C:T Identity +NM_001330574.2:c.1199_1203del NP_001317503.1:p.Gln400fs NC_000023.11:85270098:AAAAA: p.(Gln400ArgfsTer21) NC_000023.11:85270098:AAAAA: p.(Gln400ArgfsTer21) NC_000023.11:85270098:AAAAA: Analogous +NM_001159279.1:c.632A>G NP_001152751.1:p.Lys211Arg NC_000007.14:57469092:A:G p.(Lys211Arg) NC_000007.14:57469092:A:G p.(Lys211Arg) NC_000007.14:57469092:A:G Identity +NM_001286696.2:c.1375C>T NP_001273625.1:p.Arg459Trp NC_000009.12:127445146:C:T p.(Arg459Trp) NC_000009.12:127445146:C:T p.(Arg459Trp) NC_000009.12:127445146:C:T Identity +NM_001378495.1:c.778A>T NP_001365424.1:p.Met260Leu NC_000009.12:33120437:T:A p.(Met260Leu) NC_000009.12:33120437:T:A p.(Met260Leu) NC_000009.12:33120437:T:A Identity +NM_001242800.2:c.1114G>A NP_001229729.1:p.Gly372Arg NC_000019.10:36819229:C:T p.(Gly372Arg) NC_000019.10:36819229:C:T p.(Gly372Arg) NC_000019.10:36819229:C:T Identity +NM_194250.2:c.453T>G NP_919226.1:p.Ile151Met NC_000002.12:184935848:T:G p.(Ile151Met) NC_000002.12:184935848:T:G p.(Ile151Met) NC_000002.12:184935848:T:G Identity +NM_001004301.4:c.1205G>A NP_001004301.2:p.Arg402His NC_000019.10:53491436:G:A p.(Arg402His) NC_000019.10:53491436:G:A p.(Arg402His) NC_000019.10:53491436:G:A Identity +NM_001144989.2:c.38G>T NP_001138461.1:p.Gly13Val NC_000019.10:57877040:C:A p.(Gly13Val) NC_000019.10:57877040:C:A p.(Gly13Val) NC_000019.10:57877040:C:A Identity +NM_001202473.2:c.313G>A NP_001189402.1:p.Glu105Lys NC_000019.10:52929291:C:T p.(Glu105Lys) NC_000019.10:52929291:C:T p.(Glu105Lys) NC_000019.10:52929291:C:T Identity +NM_001267827.2:c.722G>A NP_001254756.1:p.Arg241Gln NC_000014.9:102326765:G:A p.(Arg241Gln) NC_000014.9:102326765:G:A p.(Arg241Gln) NC_000014.9:102326765:G:A Identity +NM_001127610.2:c.442C>G NP_001121082.1:p.Arg148Gly NC_000009.12:101370962:G:C p.(Arg148Gly) NC_000009.12:101370962:G:C p.(Arg148Gly) NC_000009.12:101370962:G:C Identity +NM_001080493.4:c.281G>A NP_001073962.1:p.Arg94Gln NC_000019.10:11723252:C:T p.(Arg94Gln) NC_000019.10:11723252:C:T p.(Arg94Gln) NC_000019.10:11723252:C:T Identity +NM_001137674.3:c.1349G>A NP_001131146.2:p.Gly450Glu NC_000003.12:31990427:G:A p.(Gly450Glu) NC_000003.12:31990427:G:A p.(Gly450Glu) NC_000003.12:31990427:G:A Identity +NM_001080821.3:c.1457G>C NP_001074290.1:p.Ser486Thr NC_000019.10:12390940:C:G p.(Ser486Thr) NC_000019.10:12390940:C:G p.(Ser486Thr) NC_000019.10:12390940:C:G Identity +NM_001039886.4:c.374A>T NP_001034975.2:p.His125Leu NC_000019.10:52553289:A:T p.(His125Leu) NC_000019.10:52553289:A:T p.(His125Leu) NC_000019.10:52553289:A:T Identity +NM_001384354.1:c.975G>T NP_001371283.1:p.Lys325Asn NC_000020.11:59191993:G:T p.(Lys325Asn) NC_000020.11:59191993:G:T p.(Lys325Asn) NC_000020.11:59191993:G:T Identity +NM_001267827.2:c.357A>C NP_001254756.1:p.Arg119Ser NC_000014.9:102326400:A:C p.(Arg119Ser) NC_000014.9:102326400:A:C p.(Arg119Ser) NC_000014.9:102326400:A:C Identity +NM_001329761.2:c.1726C>G NP_001316690.1:p.Leu576Val NC_000019.10:37363574:C:G p.(Leu576Val) NC_000019.10:37363574:C:G p.(Leu576Val) NC_000019.10:37363574:C:G Identity +NM_001282415.2:c.460C>T NP_001269344.1:p.Arg154Trp NC_000016.10:3089791:G:A p.(Arg154Trp) NC_000016.10:3089791:G:A p.(Arg154Trp) NC_000016.10:3089791:G:A Identity +NM_001163474.2:c.1420C>T NP_001156946.1:p.Arg474Cys NC_000007.14:149474901:G:A p.(Arg474Cys) NC_000007.14:149474901:G:A p.(Arg474Cys) NC_000007.14:149474901:G:A Identity +NM_001350496.2:c.559C>T NP_001337425.1:p.His187Tyr NC_000019.10:53455065:C:T p.(His187Tyr) NC_000019.10:53455065:C:T p.(His187Tyr) NC_000019.10:53455065:C:T Identity +NM_021217.3:c.736G>A NP_067040.1:p.Gly246Arg NC_000019.10:2934390:C:T p.(Gly246Arg) NC_000019.10:2934390:C:T p.(Gly246Arg) NC_000019.10:2934390:C:T Identity +NM_001384833.1:c.499A>G NP_001371762.1:p.Arg167Gly NC_000019.10:57678015:A:G p.(Arg167Gly) NC_000019.10:57678015:A:G p.(Arg167Gly) NC_000019.10:57678015:A:G Identity +NM_001135215.1:c.61T>A NP_001128687.1:p.Trp21Arg NC_000006.12:28329622:A:T p.(Trp21Arg) NC_000006.12:28329622:A:T p.(Trp21Arg) NC_000006.12:28329622:A:T Identity +NM_001322072.3:c.286A>G NP_001309001.1:p.Met96Val NC_000019.10:56224760:T:C p.(Met96Val) NC_000019.10:56224760:T:C p.(Met96Val) NC_000019.10:56224760:T:C Identity +NM_020928.2:c.448G>T NP_065979.1:p.Gly150Cys NC_000005.10:61332719:G:T p.(Gly150Cys) NC_000005.10:61332719:G:T p.(Gly150Cys) NC_000005.10:61332719:G:T Identity +NM_001080404.3:c.677C>A NP_001073873.2:p.Pro226His NC_000019.10:12044723:G:T p.(Pro226His) NC_000019.10:12044723:G:T p.(Pro226His) NC_000019.10:12044723:G:T Identity +NM_001300951.2:c.202A>T NP_001287880.1:p.Met68Leu NC_000019.10:23362680:T:A p.(Met68Leu) NC_000019.10:23362680:T:A p.(Met68Leu) NC_000019.10:23362680:T:A Identity +NM_001110354.2:c.835T>C NP_001103824.1:p.Tyr279His NC_000007.14:76440252:T:C p.(Tyr279His) NC_000007.14:76440252:T:C p.(Tyr279His) NC_000007.14:76440252:T:C Identity +NM_198844.3:c.333G>C NP_942141.2:p.Met111Ile NC_000017.11:39871617:G:C p.(Met111Ile) NC_000017.11:39871617:G:C p.(Met111Ile) NC_000017.11:39871617:G:C Identity +NM_001286568.2:c.1493C>A NP_001273497.1:p.Pro498Gln NC_000002.12:135265579:G:T p.(Pro498Gln) NC_000002.12:135265579:G:T p.(Pro498Gln) NC_000002.12:135265579:G:T Identity +NM_000465.4:c.1867G>A NP_000456.2:p.Gly623Arg NC_000002.12:214745102:C:T p.(Gly623Arg) NC_000002.12:214745102:C:T p.(Gly623Arg) NC_000002.12:214745102:C:T Identity +NM_001093.4:c.4258A>C NP_001084.3:p.Ile1420Leu NC_000012.12:109233955:A:C p.(Ile1420Leu) NC_000012.12:109233955:A:C p.(Ile1420Leu) NC_000012.12:109233955:A:C Identity +NM_001301132.2:c.686A>G NP_001288061.1:p.His229Arg NC_000015.10:40459149:A:G p.(His229Arg) NC_000015.10:40459149:A:G p.(His229Arg) NC_000015.10:40459149:A:G Identity +NM_000465.4:c.502G>A NP_000456.2:p.Ala168Thr NC_000002.12:214781371:C:T p.(Ala168Thr) NC_000002.12:214781371:C:T p.(Ala168Thr) NC_000002.12:214781371:C:T Identity +NM_001377376.1:c.183T>G NP_001364305.1:p.Asp61Glu NC_000001.11:33479470:T:G p.(Asp61Glu) NC_000001.11:33479470:T:G p.(Asp61Glu) NC_000001.11:33479470:T:G Identity +NM_182521.3:c.818C>T NP_872327.2:p.Thr273Ile NC_000002.12:186833955:G:A p.(Thr273Ile) NC_000002.12:186833955:G:A p.(Thr273Ile) NC_000002.12:186833955:G:A Identity +NM_020928.2:c.381C>A NP_065979.1:p.Phe127Leu NC_000005.10:61332652:C:A p.(Phe127Leu) NC_000005.10:61332652:C:A p.(Phe127Leu) NC_000005.10:61332652:C:A Identity +NM_007157.4:c.796C>T NP_009088.1:p.Pro266Ser NC_000023.11:57592843:C:T p.(Pro266Ser) NC_000023.11:57592843:C:T p.(Pro266Ser) NC_000023.11:57592843:C:T Identity +NM_001178091.2:c.212C>T NP_001171562.1:p.Pro71Leu NC_000012.12:24894341:G:A p.(Pro71Leu) NC_000012.12:24894341:G:A p.(Pro71Leu) NC_000012.12:24894341:G:A Identity +NM_001378213.1:c.629C>T NP_001365142.1:p.Pro210Leu NC_000011.10:118903355:G:A p.(Pro210Leu) NC_000011.10:118903355:G:A p.(Pro210Leu) NC_000011.10:118903355:G:A Identity +NM_001378213.1:c.4183G>A NP_001365142.1:p.Gly1395Arg NC_000011.10:118898731:C:T p.(Gly1395Arg) NC_000011.10:118898731:C:T p.(Gly1395Arg) NC_000011.10:118898731:C:T Identity +NM_001284527.2:c.1115A>T NP_001271456.1:p.Glu372Val NC_000016.10:3384577:T:A p.(Glu372Val) NC_000016.10:3384577:T:A p.(Glu372Val) NC_000016.10:3384577:T:A Identity +NM_021948.5:c.1873G>T NP_068767.3:p.Val625Leu NC_000001.11:156652822:G:T p.(Val625Leu) NC_000001.11:156652822:G:T p.(Val625Leu) NC_000001.11:156652822:G:T Identity +NM_001190.4:c.154G>A NP_001181.2:p.Gly52Ser NC_000019.10:48806662:C:T p.(Gly52Ser) NC_000019.10:48806662:C:T p.(Gly52Ser) NC_000019.10:48806662:C:T Identity +NM_005178.5:c.214C>T NP_005169.2:p.Pro72Ser NC_000019.10:44749003:C:T p.(Pro72Ser) NC_000019.10:44749003:C:T p.(Pro72Ser) NC_000019.10:44749003:C:T Identity +NM_001378213.1:c.1583A>G NP_001365142.1:p.Tyr528Cys NC_000011.10:118902159:T:C p.(Tyr528Cys) NC_000011.10:118902159:T:C p.(Tyr528Cys) NC_000011.10:118902159:T:C Identity +NM_020139.4:c.253G>C NP_064524.3:p.Val85Leu NC_000004.12:103091280:C:G p.(Val85Leu) NC_000004.12:103091280:C:G p.(Val85Leu) NC_000004.12:103091280:C:G Identity +NM_020139.4:c.671T>C NP_064524.3:p.Leu224Ser NC_000004.12:103082093:A:G p.(Leu224Ser) NC_000004.12:103082093:A:G p.(Leu224Ser) NC_000004.12:103082093:A:G Identity +NM_001196.4:c.311G>T NP_001187.1:p.Gly104Val NC_000022.11:17739400:C:A p.(Gly104Val) NC_000022.11:17739400:C:A p.(Gly104Val) NC_000022.11:17739400:C:A Identity +NM_198834.3:c.2069A>T NP_942131.1:p.His690Leu NC_000017.11:37252016:T:A p.(His690Leu) NC_000017.11:37252016:T:A p.(His690Leu) NC_000017.11:37252016:T:A Identity +NM_001093.4:c.6844C>T NP_001084.3:p.Arg2282Cys NC_000012.12:109264287:C:T p.(Arg2282Cys) NC_000012.12:109264287:C:T p.(Arg2282Cys) NC_000012.12:109264287:C:T Identity +NM_000465.4:c.1591G>C NP_000456.2:p.Val531Leu NC_000002.12:214752532:C:G p.(Val531Leu) NC_000002.12:214752532:C:G p.(Val531Leu) NC_000002.12:214752532:C:G Identity +NM_138456.4:c.91G>A NP_612465.3:p.Ala31Thr NC_000011.10:64994497:C:T p.(Ala31Thr) NC_000011.10:64994497:C:T p.(Ala31Thr) NC_000011.10:64994497:C:T Identity +NM_018429.3:c.2561A>G NP_060899.2:p.Asp854Gly NC_000005.10:71509652:A:G p.(Asp854Gly) NC_000005.10:71509652:A:G p.(Asp854Gly) NC_000005.10:71509652:A:G Identity +NM_001195.5:c.116C>A NP_001186.1:p.Thr39Lys NC_000020.11:17531213:G:T p.(Thr39Lys) NC_000020.11:17531213:G:T p.(Thr39Lys) NC_000020.11:17531213:G:T Identity +NM_001083907.3:c.1139A>G NP_001077376.3:p.Asn380Ser NC_000004.12:102021535:A:G p.(Asn380Ser) NC_000004.12:102021535:A:G p.(Asn380Ser) NC_000004.12:102021535:A:G Identity +NM_001410772.1:c.669T>G NP_001397701.1:p.Tyr223Ter NC_000003.12:52406312:A:C p.(Tyr223Ter) NC_000003.12:52406312:A:C p.(Tyr223Ter) NC_000003.12:52406312:A:C Identity +NM_001135.4:c.3002T>C NP_001126.3:p.Leu1001Pro NC_000015.10:88855586:T:C p.(Leu1001Pro) NC_000015.10:88855586:T:C p.(Leu1001Pro) NC_000015.10:88855586:T:C Identity +NM_001321560.2:c.4055G>T NP_001308489.1:p.Gly1352Val NC_000017.11:28631860:C:A p.(Gly1352Val) NC_000017.11:28631860:C:A p.(Gly1352Val) NC_000017.11:28631860:C:A Identity +NM_001201.5:c.1193A>G NP_001192.4:p.Tyr398Cys NC_000004.12:81046613:A:G p.(Tyr398Cys) NC_000004.12:81046613:A:G p.(Tyr398Cys) NC_000004.12:81046613:A:G Identity +NM_001720.5:c.343G>C NP_001711.2:p.Asp115His NC_000001.11:39775029:C:G p.(Asp115His) NC_000001.11:39775029:C:G p.(Asp115His) NC_000001.11:39775029:C:G Identity +NM_014753.4:c.1282C>T NP_055568.3:p.Arg428Cys NC_000010.11:42796525:C:T p.(Arg428Cys) NC_000010.11:42796525:C:T p.(Arg428Cys) NC_000010.11:42796525:C:T Identity +NM_004332.4:c.11T>G NP_004323.2:p.Val4Gly NC_000006.12:3118750:T:G p.(Val4Gly) NC_000006.12:3118750:T:G p.(Val4Gly) NC_000006.12:3118750:T:G Identity +NM_004459.7:c.7870G>A NP_004450.3:p.Val2624Met NC_000017.11:67948300:G:A p.(Val2624Met) NC_000017.11:67948300:G:A p.(Val2624Met) NC_000017.11:67948300:G:A Identity +NM_001301861.2:c.2027C>T NP_001288790.1:p.Thr676Ile NC_000003.12:113279826:C:T p.(Thr676Ile) NC_000003.12:113279826:C:T p.(Thr676Ile) NC_000003.12:113279826:C:T Identity +NM_001321025.2:c.134G>T NP_001307954.1:p.Ser45Ile NC_000001.11:149900192:G:T p.(Ser45Ile) NC_000001.11:149900192:G:T p.(Ser45Ile) NC_000001.11:149900192:G:T Identity +NM_004459.7:c.7414C>T NP_004450.3:p.Pro2472Ser NC_000017.11:67945743:C:T p.(Pro2472Ser) NC_000017.11:67945743:C:T p.(Pro2472Ser) NC_000017.11:67945743:C:T Identity +NM_001159547.2:c.600C>G NP_001153019.1:p.Cys200Trp NC_000004.12:42143881:G:C p.(Cys200Trp) NC_000004.12:42143881:G:C p.(Cys200Trp) NC_000004.12:42143881:G:C Identity +NM_000059.4:c.9470A>G NP_000050.3:p.Glu3157Gly NC_000013.11:32394901:A:G p.(Glu3157Gly) NC_000013.11:32394901:A:G p.(Glu3157Gly) NC_000013.11:32394901:A:G Identity +NM_001406719.1:c.373G>T NP_001393648.1:p.Asp125Tyr NC_000013.11:32325131:G:T p.(Asp125Tyr) NC_000013.11:32325131:G:T p.(Asp125Tyr) NC_000013.11:32325131:G:T Identity +NM_000059.4:c.2015G>A NP_000050.3:p.Arg672Lys NC_000013.11:32336369:G:A p.(Arg672Lys) NC_000013.11:32336369:G:A p.(Arg672Lys) NC_000013.11:32336369:G:A Identity +NM_001394372.1:c.2929G>C NP_001381301.1:p.Gly977Arg NC_000019.10:47694932:G:C p.(Gly977Arg) NC_000019.10:47694932:G:C p.(Gly977Arg) NC_000019.10:47694932:G:C Identity +NM_001082486.2:c.208C>G NP_001075955.2:p.Leu70Val NC_000016.10:67659936:G:C p.(Leu70Val) NC_000016.10:67659936:G:C p.(Leu70Val) NC_000016.10:67659936:G:C Identity +NM_001311255.1:c.305C>T NP_001298184.1:p.Ser102Phe NC_000015.10:45603164:C:T p.(Ser102Phe) NC_000015.10:45603164:C:T p.(Ser102Phe) NC_000015.10:45603164:C:T Identity +NM_001201.5:c.1291G>A NP_001192.4:p.Gly431Arg NC_000004.12:81053407:G:A p.(Gly431Arg) NC_000004.12:81053407:G:A p.(Gly431Arg) NC_000004.12:81053407:G:A Identity +NM_182563.4:c.88G>A NP_872369.2:p.Val30Met NC_000016.10:2210613:C:T p.(Val30Met) NC_000016.10:2210613:C:T p.(Val30Met) NC_000016.10:2210613:C:T Identity +NM_015695.3:c.317A>G NP_056510.2:p.His106Arg NC_000006.12:36200638:A:G p.(His106Arg) NC_000006.12:36200638:A:G p.(His106Arg) NC_000006.12:36200638:A:G Identity +NM_001271874.2:c.580C>T NP_001258803.1:p.Arg194Trp NC_000020.11:36240447:C:T p.(Arg194Trp) NC_000020.11:36240447:C:T p.(Arg194Trp) NC_000020.11:36240447:C:T Identity +NM_001003940.2:c.48A>T NP_001003940.1:p.Gln16His NC_000015.10:40106038:T:A p.(Gln16His) NC_000015.10:40106038:T:A p.(Gln16His) NC_000015.10:40106038:T:A Identity +NM_001406559.1:c.776T>C NP_001393488.1:p.Ile259Thr NC_000010.11:86917158:T:C p.(Ile259Thr) NC_000010.11:86917158:T:C p.(Ile259Thr) NC_000010.11:86917158:T:C Identity +NM_001375861.1:c.50A>G NP_001362790.1:p.Glu17Gly NC_000005.10:892607:T:C p.(Glu17Gly) NC_000005.10:892607:T:C p.(Glu17Gly) NC_000005.10:892607:T:C Identity +NM_001197233.3:c.857G>A NP_001184162.1:p.Arg286Gln NC_000006.12:26468004:G:A p.(Arg286Gln) NC_000006.12:26468004:G:A p.(Arg286Gln) NC_000006.12:26468004:G:A Identity +NM_001278616.2:c.159A>C NP_001265545.1:p.Leu53Phe NC_000002.12:110674091:T:G p.(Leu53Phe) NC_000002.12:110674091:T:G p.(Leu53Phe) NC_000002.12:110674091:T:G Identity +NM_001365308.1:c.1226C>T NP_001352237.1:p.Ala409Val NC_000007.14:34079003:C:T p.(Ala409Val) NC_000007.14:34079003:C:T p.(Ala409Val) NC_000007.14:34079003:C:T Identity +NM_014753.4:c.2684G>A NP_055568.3:p.Cys895Tyr NC_000010.11:42820338:G:A p.(Cys895Tyr) NC_000010.11:42820338:G:A p.(Cys895Tyr) NC_000010.11:42820338:G:A Identity +NM_148894.3:c.7370T>C NP_683692.2:p.Ile2457Thr NC_000004.12:13599529:A:G p.(Ile2457Thr) NC_000004.12:13599529:A:G p.(Ile2457Thr) NC_000004.12:13599529:A:G Identity +NM_015201.5:c.58C>T NP_056016.1:p.Arg20Trp NC_000008.11:144291312:G:A p.(Arg20Trp) NC_000008.11:144291312:G:A p.(Arg20Trp) NC_000008.11:144291312:G:A Identity +NM_032360.4:c.44G>T NP_115736.1:p.Ser15Ile NC_000001.11:180502222:C:A p.(Ser15Ile) NC_000001.11:180502222:C:A p.(Ser15Ile) NC_000001.11:180502222:C:A Identity +NM_152547.5:c.1048G>A NP_689760.2:p.Val350Met NC_000005.10:181059301:G:A p.(Val350Met) NC_000005.10:181059301:G:A p.(Val350Met) NC_000005.10:181059301:G:A Identity +NM_001278616.2:c.264T>G NP_001265545.1:p.His88Gln NC_000002.12:110672758:A:C p.(His88Gln) NC_000002.12:110672758:A:C p.(His88Gln) NC_000002.12:110672758:A:C Identity +NM_000059.4:c.8563G>A NP_000050.3:p.Val2855Met NC_000013.11:32371030:G:A p.(Val2855Met) NC_000013.11:32371030:G:A p.(Val2855Met) NC_000013.11:32371030:G:A Identity +NM_001082486.2:c.1014C>A NP_001075955.2:p.Ser338Arg NC_000016.10:67658177:G:T p.(Ser338Arg) NC_000016.10:67658177:G:T p.(Ser338Arg) NC_000016.10:67658177:G:T Identity +NM_001017969.3:c.4972G>A NP_001017969.2:p.Ala1658Thr NC_000009.12:5921023:C:T p.(Ala1658Thr) NC_000009.12:5921023:C:T p.(Ala1658Thr) NC_000009.12:5921023:C:T Identity +NM_001101667.2:c.1306C>T NP_001095137.1:p.Arg436Trp NC_000004.12:8389728:G:A p.(Arg436Trp) NC_000004.12:8389728:G:A p.(Arg436Trp) NC_000004.12:8389728:G:A Identity +NM_001211.6:c.311G>A NP_001202.5:p.Arg104Lys NC_000015.10:40170607:G:A p.(Arg104Lys) NC_000015.10:40170607:G:A p.(Arg104Lys) NC_000015.10:40170607:G:A Identity +NM_000063.6:c.109C>A NP_000054.2:p.Leu37Ile NC_000006.12:31928016:C:A p.(Leu37Ile) NC_000006.12:31928016:C:A p.(Leu37Ile) NC_000006.12:31928016:C:A Identity +NM_001101667.2:c.1576C>G NP_001095137.1:p.Leu526Val NC_000004.12:8381568:G:C p.(Leu526Val) NC_000004.12:8381568:G:C p.(Leu526Val) NC_000004.12:8381568:G:C Identity +NM_001082486.2:c.913C>G NP_001075955.2:p.Pro305Ala NC_000016.10:67658278:G:C p.(Pro305Ala) NC_000016.10:67658278:G:C p.(Pro305Ala) NC_000016.10:67658278:G:C Identity +NM_001017969.3:c.4344T>G NP_001017969.2:p.Ser1448Arg NC_000009.12:5921651:A:C p.(Ser1448Arg) NC_000009.12:5921651:A:C p.(Ser1448Arg) NC_000009.12:5921651:A:C Identity +NM_007371.4:c.1427A>G NP_031397.1:p.Gln476Arg NC_000009.12:134040249:T:C p.(Gln476Arg) NC_000009.12:134040249:T:C p.(Gln476Arg) NC_000009.12:134040249:T:C Identity +NM_001330384.2:c.763C>T NP_001317313.1:p.Pro255Ser NC_000019.10:15265439:G:A p.(Pro255Ser) NC_000019.10:15265439:G:A p.(Pro255Ser) NC_000019.10:15265439:G:A Identity +NM_001037161.2:c.1052A>T NP_001032238.1:p.Gln351Leu NC_000014.9:73543440:A:T p.(Gln351Leu) NC_000014.9:73543440:A:T p.(Gln351Leu) NC_000014.9:73543440:A:T Identity +NM_003458.4:c.5078C>T NP_003449.2:p.Ala1693Val NC_000003.12:49654633:C:T p.(Ala1693Val) NC_000003.12:49654633:C:T p.(Ala1693Val) NC_000003.12:49654633:C:T Identity +NM_003458.4:c.4876C>T NP_003449.2:p.Pro1626Ser NC_000003.12:49654431:C:T p.(Pro1626Ser) NC_000003.12:49654431:C:T p.(Pro1626Ser) NC_000003.12:49654431:C:T Identity +NM_001168221.2:c.2927A>G NP_001161693.1:p.Tyr976Cys NC_000002.12:201493413:T:C p.(Tyr976Cys) NC_000002.12:201493413:T:C p.(Tyr976Cys) NC_000002.12:201493413:T:C Identity +NM_001199281.1:c.107C>T NP_001186210.1:p.Ala36Val NC_000022.11:24038357:C:T p.(Ala36Val) NC_000022.11:24038357:C:T p.(Ala36Val) NC_000022.11:24038357:C:T Identity +NM_000715.4:c.1144C>T NP_000706.1:p.Arg382Cys NC_000001.11:207134462:C:T p.(Arg382Cys) NC_000001.11:207134462:C:T p.(Arg382Cys) NC_000001.11:207134462:C:T Identity +NM_001199281.1:c.171A>C NP_001186210.1:p.Lys57Asn NC_000022.11:24038421:A:C p.(Lys57Asn) NC_000022.11:24038421:A:C p.(Lys57Asn) NC_000022.11:24038421:A:C Identity +NM_001293274.2:c.646G>A NP_001280203.1:p.Asp216Asn NC_000001.11:64652303:G:A p.(Asp216Asn) NC_000001.11:64652303:G:A p.(Asp216Asn) NC_000001.11:64652303:G:A Identity +NM_001143888.3:c.259G>A NP_001137360.1:p.Ala87Thr NC_000001.11:32383978:C:T p.(Ala87Thr) NC_000001.11:32383978:C:T p.(Ala87Thr) NC_000001.11:32383978:C:T Identity +NM_001002860.4:c.1504C>T NP_001002860.2:p.Arg502Trp NC_000014.9:93257298:G:A p.(Arg502Trp) NC_000014.9:93257298:G:A p.(Arg502Trp) NC_000014.9:93257298:G:A Identity +NM_001002860.4:c.2345A>G NP_001002860.2:p.Gln782Arg NC_000014.9:93246062:T:C p.(Gln782Arg) NC_000014.9:93246062:T:C p.(Gln782Arg) NC_000014.9:93246062:T:C Identity +NM_001278616.2:c.659A>G NP_001265545.1:p.Glu220Gly NC_000002.12:110667606:T:C p.(Glu220Gly) NC_000002.12:110667606:T:C p.(Glu220Gly) NC_000002.12:110667606:T:C Identity +NM_000719.7:c.2051C>T NP_000710.5:p.Thr684Ile NC_000012.12:2581744:C:T p.(Thr684Ile) NC_000012.12:2581744:C:T p.(Thr684Ile) NC_000012.12:2581744:C:T Identity +NM_000719.7:c.1412C>T NP_000710.5:p.Thr471Ile NC_000012.12:2549963:C:T p.(Thr471Ile) NC_000012.12:2549963:C:T p.(Thr471Ile) NC_000012.12:2549963:C:T Identity +NM_006539.4:c.398A>G NP_006530.1:p.Asn133Ser NC_000016.10:24354934:A:G p.(Asn133Ser) NC_000016.10:24354934:A:G p.(Asn133Ser) NC_000016.10:24354934:A:G Identity +NM_153810.5:c.25G>A NP_722517.3:p.Glu9Lys NC_000010.11:118754737:C:T p.(Glu9Lys) NC_000010.11:118754737:C:T p.(Glu9Lys) NC_000010.11:118754737:C:T Identity +NM_001282550.3:c.82A>G NP_001269479.1:p.Ser28Gly NC_000020.11:11918539:A:G p.(Ser28Gly) NC_000020.11:11918539:A:G p.(Ser28Gly) NC_000020.11:11918539:A:G Identity +NM_001278616.2:c.606C>G NP_001265545.1:p.His202Gln NC_000002.12:110667659:G:C p.(His202Gln) NC_000002.12:110667659:G:C p.(His202Gln) NC_000002.12:110667659:G:C Identity +NM_018398.3:c.438G>C NP_060868.2:p.Leu146Phe NC_000003.12:54503547:G:C p.(Leu146Phe) NC_000003.12:54503547:G:C p.(Leu146Phe) NC_000003.12:54503547:G:C Identity +NM_172364.5:c.3067G>A NP_758952.4:p.Ala1023Thr NC_000012.12:1797463:C:T p.(Ala1023Thr) NC_000012.12:1797463:C:T p.(Ala1023Thr) NC_000012.12:1797463:C:T Identity +NM_000723.5:c.353A>G NP_000714.3:p.Glu118Gly NC_000017.11:39187539:T:C p.(Glu118Gly) NC_000017.11:39187539:T:C p.(Glu118Gly) NC_000017.11:39187539:T:C Identity +NM_001009571.4:c.2690C>G NP_001009571.2:p.Pro897Arg NC_000007.14:122407577:G:C p.(Pro897Arg) NC_000007.14:122407577:G:C p.(Pro897Arg) NC_000007.14:122407577:G:C Identity +NM_001007537.3:c.81C>A NP_001007538.1:p.His27Gln NC_000013.11:23896905:G:T p.(His27Gln) NC_000013.11:23896905:G:T p.(His27Gln) NC_000013.11:23896905:G:T Identity +NM_003716.4:c.825G>T NP_003707.2:p.Glu275Asp NC_000003.12:62753503:C:A p.(Glu275Asp) NC_000003.12:62753503:C:A p.(Glu275Asp) NC_000003.12:62753503:C:A Identity +NM_024766.5:c.440C>A NP_079042.1:p.Ala147Asp NC_000002.12:44706288:C:A p.(Ala147Asp) NC_000002.12:44706288:C:A p.(Ala147Asp) NC_000002.12:44706288:C:A Identity +NM_001297707.3:c.2708A>G NP_001284636.1:p.His903Arg NC_000001.11:200849443:A:G p.(His903Arg) NC_000001.11:200849443:A:G p.(His903Arg) NC_000001.11:200849443:A:G Identity +NM_024766.5:c.184G>A NP_079042.1:p.Val62Ile NC_000002.12:44372760:G:A p.(Val62Ile) NC_000002.12:44372760:G:A p.(Val62Ile) NC_000002.12:44372760:G:A Identity +NM_001218.5:c.142C>G NP_001209.1:p.Pro48Ala NC_000015.10:63346673:G:C p.(Pro48Ala) NC_000015.10:63346673:G:C p.(Pro48Ala) NC_000015.10:63346673:G:C Identity +NM_005632.3:c.746G>T NP_005623.1:p.Arg249Leu NC_000016.10:547583:G:T p.(Arg249Leu) NC_000016.10:547583:G:T p.(Arg249Leu) NC_000016.10:547583:G:T Identity +NM_005622.4:c.1568T>C NP_005613.2:p.Phe523Ser NC_000016.10:20796382:T:C p.(Phe523Ser) NC_000016.10:20796382:T:C p.(Phe523Ser) NC_000016.10:20796382:T:C Identity +NM_006136.3:c.389C>T NP_006127.1:p.Ala130Val NC_000007.14:116904345:C:T p.(Ala130Val) NC_000007.14:116904345:C:T p.(Ala130Val) NC_000007.14:116904345:C:T Identity +NM_152420.3:c.62G>C NP_689633.1:p.Gly21Ala NC_000009.12:75028179:C:G p.(Gly21Ala) NC_000009.12:75028179:C:G p.(Gly21Ala) NC_000009.12:75028179:C:G Identity +NM_001252675.2:c.1051C>T NP_001239604.1:p.Leu351Phe NC_000020.11:25021445:G:A p.(Leu351Phe) NC_000020.11:25021445:G:A p.(Leu351Phe) NC_000020.11:25021445:G:A Identity +NM_001211.6:c.502T>C NP_001202.5:p.Phe168Leu NC_000015.10:40176593:T:C p.(Phe168Leu) NC_000015.10:40176593:T:C p.(Phe168Leu) NC_000015.10:40176593:T:C Identity +NM_001146068.2:c.1790T>G NP_001139540.1:p.Ile597Arg NC_000001.11:223772183:T:G p.(Ile597Arg) NC_000001.11:223772183:T:G p.(Ile597Arg) NC_000001.11:223772183:T:G Identity +NM_001002259.3:c.2779G>C NP_001002259.1:p.Gly927Arg NC_000012.12:30711601:C:G p.(Gly927Arg) NC_000012.12:30711601:C:G p.(Gly927Arg) NC_000012.12:30711601:C:G Identity +NM_014550.4:c.2567C>T NP_055365.2:p.Ala856Val NC_000022.11:37492711:G:A p.(Ala856Val) NC_000022.11:37492711:G:A p.(Ala856Val) NC_000022.11:37492711:G:A Identity +NM_001166222.2:c.2662C>T NP_001159694.1:p.Arg888Cys NC_000011.10:67424409:C:T p.(Arg888Cys) NC_000011.10:67424409:C:T p.(Arg888Cys) NC_000011.10:67424409:C:T Identity +NM_001252675.2:c.80C>T NP_001239604.1:p.Pro27Leu NC_000020.11:25058022:G:A p.(Pro27Leu) NC_000020.11:25058022:G:A p.(Pro27Leu) NC_000020.11:25058022:G:A Identity +NM_001288968.2:c.348G>T NP_001275897.1:p.Leu116Phe NC_000017.11:50460820:G:T p.(Leu116Phe) NC_000017.11:50460820:G:T p.(Leu116Phe) NC_000017.11:50460820:G:T Identity +NM_001076552.3:c.1327G>T NP_001070020.2:p.Ala443Ser NC_000020.11:34921339:G:T p.(Ala443Ser) NC_000020.11:34921339:G:T p.(Ala443Ser) NC_000020.11:34921339:G:T Identity +NM_000388.4:c.2720G>C NP_000379.3:p.Gly907Ala NC_000003.12:122284673:G:C p.(Gly907Ala) NC_000003.12:122284673:G:C p.(Gly907Ala) NC_000003.12:122284673:G:C Identity +NM_001002029.4:c.3383T>C NP_001002029.3:p.Met1128Thr NC_000006.12:32028844:T:C p.(Met1128Thr) NC_000006.12:32028844:T:C p.(Met1128Thr) NC_000006.12:32028844:T:C Identity +NM_020925.4:c.343A>G NP_065976.3:p.Thr115Ala NC_000001.11:64582236:A:G p.(Thr115Ala) NC_000001.11:64582236:A:G p.(Thr115Ala) NC_000001.11:64582236:A:G Identity +NM_001032999.3:c.167C>T NP_001028171.1:p.Thr56Ile NC_000020.11:33607087:C:T p.(Thr56Ile) NC_000020.11:33607087:C:T p.(Thr56Ile) NC_000020.11:33607087:C:T Identity +NM_001256887.3:c.487A>G NP_001243816.1:p.Arg163Gly NC_000006.12:116558181:A:G p.(Arg163Gly) NC_000006.12:116558181:A:G p.(Arg163Gly) NC_000006.12:116558181:A:G Identity +NM_001171166.2:c.2896G>A NP_001164637.1:p.Glu966Lys NC_000017.11:4970454:C:T p.(Glu966Lys) NC_000017.11:4970454:C:T p.(Glu966Lys) NC_000017.11:4970454:C:T Identity +NM_005188.4:c.559G>A NP_005179.2:p.Ala187Thr NC_000011.10:119271849:G:A p.(Ala187Thr) NC_000011.10:119271849:G:A p.(Ala187Thr) NC_000011.10:119271849:G:A Identity +NM_001286341.2:c.272C>T NP_001273270.1:p.Pro91Leu NC_000013.11:45713377:C:T p.(Pro91Leu) NC_000013.11:45713377:C:T p.(Pro91Leu) NC_000013.11:45713377:C:T Identity +NM_000722.4:c.3133G>A NP_000713.2:p.Asp1045Asn NC_000007.14:81959300:C:T p.(Asp1045Asn) NC_000007.14:81959300:C:T p.(Asp1045Asn) NC_000007.14:81959300:C:T Identity +NM_018398.3:c.1199A>G NP_060868.2:p.Glu400Gly NC_000003.12:54752629:A:G p.(Glu400Gly) NC_000003.12:54752629:A:G p.(Glu400Gly) NC_000003.12:54752629:A:G Identity +NM_000724.4:c.1450C>G NP_000715.2:p.His484Asp NC_000010.11:18539355:C:G p.(His484Asp) NC_000010.11:18539355:C:G p.(His484Asp) NC_000010.11:18539355:C:G Identity +NM_020649.3:c.78G>A NP_065700.1:p.Met26Ile NC_000017.11:79796531:C:T p.(Met26Ile) NC_000017.11:79796531:C:T p.(Met26Ile) NC_000017.11:79796531:C:T Identity +NM_001252675.2:c.1732G>A NP_001239604.1:p.Val578Ile NC_000020.11:25012633:C:T p.(Val578Ile) NC_000020.11:25012633:C:T p.(Val578Ile) NC_000020.11:25012633:C:T Identity +NM_001014437.3:c.724G>A NP_001014437.1:p.Val242Met NC_000011.10:3038126:C:T p.(Val242Met) NC_000011.10:3038126:C:T p.(Val242Met) NC_000011.10:3038126:C:T Identity +NM_001366335.1:c.187T>A NP_001353264.1:p.Cys63Ser NC_000003.12:123956087:A:T p.(Cys63Ser) NC_000003.12:123956087:A:T p.(Cys63Ser) NC_000003.12:123956087:A:T Identity +NM_025004.3:c.1625G>A NP_079280.2:p.Arg542Lys NC_000011.10:124987850:G:A p.(Arg542Lys) NC_000011.10:124987850:G:A p.(Arg542Lys) NC_000011.10:124987850:G:A Identity +NM_001301685.2:c.65T>G NP_001288614.1:p.Ile22Ser NC_000002.12:158358530:A:C p.(Ile22Ser) NC_000002.12:158358530:A:C p.(Ile22Ser) NC_000002.12:158358530:A:C Identity +NM_001080539.2:c.847A>G NP_001074008.1:p.Lys283Glu NC_000002.12:196666802:A:G p.(Lys283Glu) NC_000002.12:196666802:A:G p.(Lys283Glu) NC_000002.12:196666802:A:G Identity +NM_001146197.3:c.2003C>T NP_001139669.1:p.Thr668Ile NC_000013.11:102748693:G:A p.(Thr668Ile) NC_000013.11:102748693:G:A p.(Thr668Ile) NC_000013.11:102748693:G:A Identity +NM_001001412.4:c.160G>A NP_001001412.3:p.Ala54Thr NC_000010.11:103458591:C:T p.(Ala54Thr) NC_000010.11:103458591:C:T p.(Ala54Thr) NC_000010.11:103458591:C:T Identity +NM_001411031.1:c.1732A>G NP_001397960.1:p.Arg578Gly NC_000009.12:135822094:T:C p.(Arg578Gly) NC_000009.12:135822094:T:C p.(Arg578Gly) NC_000009.12:135822094:T:C Identity +NM_001162499.2:c.2732A>G NP_001155971.1:p.Gln911Arg NC_000003.12:12817663:A:G p.(Gln911Arg) NC_000003.12:12817663:A:G p.(Gln911Arg) NC_000003.12:12817663:A:G Identity +NM_001363533.2:c.367C>G NP_001350462.1:p.Pro123Ala NC_000006.12:17539334:C:G p.(Pro123Ala) NC_000006.12:17539334:C:G p.(Pro123Ala) NC_000006.12:17539334:C:G Identity +NM_144575.3:c.1840C>G NP_653176.2:p.Leu614Val NC_000002.12:30732524:G:C p.(Leu614Val) NC_000002.12:30732524:G:C p.(Leu614Val) NC_000002.12:30732524:G:C Identity +NM_001105528.4:c.2349A>C NP_001098998.1:p.Lys783Asn NC_000018.10:33092799:T:G p.(Lys783Asn) NC_000018.10:33092799:T:G p.(Lys783Asn) NC_000018.10:33092799:T:G Identity +NM_014008.5:c.1553C>T NP_054727.1:p.Thr518Met NC_000023.11:49249179:C:T p.(Thr518Met) NC_000023.11:49249179:C:T p.(Thr518Met) NC_000023.11:49249179:C:T Identity +NM_001130146.2:c.569T>A NP_001123618.1:p.Ile190Asn NC_000012.12:431946:T:A p.(Ile190Asn) NC_000012.12:431946:T:A p.(Ile190Asn) NC_000012.12:431946:T:A Identity +NM_001300968.1:c.542A>G NP_001287897.1:p.Asn181Ser NC_000001.11:169421888:T:C p.(Asn181Ser) NC_000001.11:169421888:T:C p.(Asn181Ser) NC_000001.11:169421888:T:C Identity +NM_001353766.3:c.2281C>T NP_001340695.1:p.His761Tyr NC_000003.12:113978997:G:A p.(His761Tyr) NC_000003.12:113978997:G:A p.(His761Tyr) NC_000003.12:113978997:G:A Identity +NM_001287181.2:c.75G>C NP_001274110.1:p.Met25Ile NC_000015.10:74330193:G:C p.(Met25Ile) NC_000015.10:74330193:G:C p.(Met25Ile) NC_000015.10:74330193:G:C Identity +NM_001256964.2:c.791A>G NP_001243893.1:p.Asn264Ser NC_000003.12:48432852:T:C p.(Asn264Ser) NC_000003.12:48432852:T:C p.(Asn264Ser) NC_000003.12:48432852:T:C Identity +NM_033328.3:c.475A>C NP_201585.1:p.Asn159His NC_000012.12:18738742:A:C p.(Asn159His) NC_000012.12:18738742:A:C p.(Asn159His) NC_000012.12:18738742:A:C Identity +NM_001166222.2:c.511C>T NP_001159694.1:p.Arg171Cys NC_000011.10:67418901:C:T p.(Arg171Cys) NC_000011.10:67418901:C:T p.(Arg171Cys) NC_000011.10:67418901:C:T Identity +NM_001166222.2:c.1612G>A NP_001159694.1:p.Asp538Asn NC_000011.10:67421204:G:A p.(Asp538Asn) NC_000011.10:67421204:G:A p.(Asp538Asn) NC_000011.10:67421204:G:A Identity +NM_001166222.2:c.623G>A NP_001159694.1:p.Arg208Gln NC_000011.10:67419013:G:A p.(Arg208Gln) NC_000011.10:67419013:G:A p.(Arg208Gln) NC_000011.10:67419013:G:A Identity +NM_001159747.2:c.926G>C NP_001153219.1:p.Arg309Pro NC_000010.11:96027297:G:C p.(Arg309Pro) NC_000010.11:96027297:G:C p.(Arg309Pro) NC_000010.11:96027297:G:C Identity +NM_001156474.2:c.1657C>T NP_001149946.1:p.Arg553Trp NC_000011.10:86415278:C:T p.(Arg553Trp) NC_000011.10:86415278:C:T p.(Arg553Trp) NC_000011.10:86415278:C:T Identity +NM_001286159.2:c.1141C>G NP_001273088.1:p.Pro381Ala NC_000011.10:85919408:C:G p.(Pro381Ala) NC_000011.10:85919408:C:G p.(Pro381Ala) NC_000011.10:85919408:C:G Identity +NM_032251.6:c.4127G>A NP_115627.6:p.Arg1376Gln NC_000011.10:64355220:G:A p.(Arg1376Gln) NC_000011.10:64355220:G:A p.(Arg1376Gln) NC_000011.10:64355220:G:A Identity +NM_001080414.4:c.5219C>T NP_001073883.2:p.Ser1740Leu NC_000014.9:91273492:G:A p.(Ser1740Leu) NC_000014.9:91273492:G:A p.(Ser1740Leu) NC_000014.9:91273492:G:A Identity +NM_001323369.2:c.32C>A NP_001310298.1:p.Ala11Asp NC_000020.11:44715421:C:A p.(Ala11Asp) NC_000020.11:44715421:C:A p.(Ala11Asp) NC_000020.11:44715421:C:A Identity +NM_001080414.4:c.844C>A NP_001073883.2:p.His282Asn NC_000014.9:91338535:G:T p.(His282Asn) NC_000014.9:91338535:G:T p.(His282Asn) NC_000014.9:91338535:G:T Identity +NM_002987.3:c.28G>T NP_002978.1:p.Val10Phe NC_000016.10:57413959:G:T p.(Val10Phe) NC_000016.10:57413959:G:T p.(Val10Phe) NC_000016.10:57413959:G:T Identity +NM_001232.4:c.1138G>C NP_001223.2:p.Asp380His NC_000001.11:115701302:C:G p.(Asp380His) NC_000001.11:115701302:C:G p.(Asp380His) NC_000001.11:115701302:C:G Identity +NM_024764.4:c.1555G>A NP_079040.2:p.Ala519Thr NC_000014.9:91639127:C:T p.(Ala519Thr) NC_000014.9:91639127:C:T p.(Ala519Thr) NC_000014.9:91639127:C:T Identity +NM_001382000.1:c.244G>A NP_001368929.1:p.Gly82Ser NC_000017.11:16690643:G:A p.(Gly82Ser) NC_000017.11:16690643:G:A p.(Gly82Ser) NC_000017.11:16690643:G:A Identity +NM_001164399.2:c.1217T>G NP_001157871.1:p.Leu406Arg NC_000014.9:59543409:A:C p.(Leu406Arg) NC_000014.9:59543409:A:C p.(Leu406Arg) NC_000014.9:59543409:A:C Identity +NM_001319145.2:c.385A>G NP_001306074.1:p.Asn129Asp NC_000001.11:158182087:A:G p.(Asn129Asp) NC_000001.11:158182087:A:G p.(Asn129Asp) NC_000001.11:158182087:A:G Identity +NM_001001732.4:c.703T>C NP_001001732.2:p.Phe235Leu NC_000010.11:96019746:T:C p.(Phe235Leu) NC_000010.11:96019746:T:C p.(Phe235Leu) NC_000010.11:96019746:T:C Identity +NM_138771.4:c.58G>A NP_620126.2:p.Val20Ile NC_000007.14:23611372:G:A p.(Val20Ile) NC_000007.14:23611372:G:A p.(Val20Ile) NC_000007.14:23611372:G:A Identity +NM_001306076.1:c.373C>G NP_001293005.1:p.Gln125Glu NC_000001.11:93186413:C:G p.(Gln125Glu) NC_000001.11:93186413:C:G p.(Gln125Glu) NC_000001.11:93186413:C:G Identity +NM_000610.4:c.536G>A NP_000601.3:p.Ser179Asn NC_000011.10:35189933:G:A p.(Ser179Asn) NC_000011.10:35189933:G:A p.(Ser179Asn) NC_000011.10:35189933:G:A Identity +NM_001411054.1:c.1609G>A NP_001397983.1:p.Val537Met NC_000014.9:102974047:C:T p.(Val537Met) NC_000014.9:102974047:C:T p.(Val537Met) NC_000014.9:102974047:C:T Identity +NM_001353766.3:c.653T>A NP_001340695.1:p.Val218Glu NC_000003.12:114035050:A:T p.(Val218Glu) NC_000003.12:114035050:A:T p.(Val218Glu) NC_000003.12:114035050:A:T Identity +NM_152492.3:c.1012G>A NP_689705.2:p.Glu338Lys NC_000001.11:3763164:G:A p.(Glu338Lys) NC_000001.11:3763164:G:A p.(Glu338Lys) NC_000001.11:3763164:G:A Identity +NM_001348010.4:c.836T>C NP_001334939.2:p.Phe279Ser NC_000009.12:97317113:T:C p.(Phe279Ser) NC_000009.12:97317113:T:C p.(Phe279Ser) NC_000009.12:97317113:T:C Identity +NM_001394065.1:c.545A>T NP_001380994.1:p.Glu182Val NC_000001.11:162855125:T:A p.(Glu182Val) NC_000001.11:162855125:T:A p.(Glu182Val) NC_000001.11:162855125:T:A Identity +NM_005436.5:c.822G>T NP_005427.2:p.Lys274Asn NC_000010.11:59812659:C:A p.(Lys274Asn) NC_000010.11:59812659:C:A p.(Lys274Asn) NC_000010.11:59812659:C:A Identity +NM_001008391.4:c.3180C>A NP_001008392.2:p.Asp1060Glu NC_000011.10:32602870:G:T p.(Asp1060Glu) NC_000011.10:32602870:G:T p.(Asp1060Glu) NC_000011.10:32602870:G:T Identity +NM_001317184.2:c.2101G>T NP_001304113.1:p.Glu701Ter NC_000016.10:68828292:G:T p.(Glu701Ter) NC_000016.10:68828292:G:T p.(Glu701Ter) NC_000016.10:68828292:G:T Identity +NM_001317184.2:c.707C>G NP_001304113.1:p.Ser236Ter NC_000016.10:68810215:C:G p.(Ser236Ter) NC_000016.10:68810215:C:G p.(Ser236Ter) NC_000016.10:68810215:C:G Identity +NM_001317227.2:c.1643C>T NP_001304156.1:p.Ala548Val NC_000005.10:21755832:G:A p.(Ala548Val) NC_000005.10:21755832:G:A p.(Ala548Val) NC_000005.10:21755832:G:A Identity +NM_004933.3:c.1747G>A NP_004924.1:p.Gly583Ser NC_000016.10:89192335:G:A p.(Gly583Ser) NC_000016.10:89192335:G:A p.(Gly583Ser) NC_000016.10:89192335:G:A Identity +NM_001080414.4:c.4480A>G NP_001073883.2:p.Arg1494Gly NC_000014.9:91283478:T:C p.(Arg1494Gly) NC_000014.9:91283478:T:C p.(Arg1494Gly) NC_000014.9:91283478:T:C Identity +NM_177980.4:c.373G>C NP_817089.1:p.Glu125Gln NC_000020.11:59972102:G:C p.(Glu125Gln) NC_000020.11:59972102:G:C p.(Glu125Gln) NC_000020.11:59972102:G:C Identity +NM_001171968.3:c.521A>T NP_001165439.2:p.Tyr174Phe NC_000011.10:621441:T:A p.(Tyr174Phe) NC_000011.10:621441:T:A p.(Tyr174Phe) NC_000011.10:621441:T:A Identity +NM_001171968.3:c.166G>C NP_001165439.2:p.Glu56Gln NC_000011.10:624651:C:G p.(Glu56Gln) NC_000011.10:624651:C:G p.(Glu56Gln) NC_000011.10:624651:C:G Identity +NM_001313896.2:c.1838G>C NP_001300825.1:p.Gly613Ala NC_000001.11:1703905:C:G p.(Gly613Ala) NC_000001.11:1703905:C:G p.(Gly613Ala) NC_000001.11:1703905:C:G Identity +NM_001330724.2:c.76A>C NP_001317653.1:p.Thr26Pro NC_000004.12:75625912:T:G p.(Thr26Pro) NC_000004.12:75625912:T:G p.(Thr26Pro) NC_000004.12:75625912:T:G Identity +NM_001364015.1:c.195C>A NP_001350944.1:p.Phe65Leu NC_000005.10:163439450:C:A p.(Phe65Leu) NC_000005.10:163439450:C:A p.(Phe65Leu) NC_000005.10:163439450:C:A Identity +NM_001394582.1:c.202G>A NP_001381511.1:p.Val68Met NC_000006.12:167136431:G:A p.(Val68Met) NC_000006.12:167136431:G:A p.(Val68Met) NC_000006.12:167136431:G:A Identity +NM_024855.4:c.31G>A NP_079131.3:p.Ala11Thr NC_000020.11:38748508:G:A p.(Ala11Thr) NC_000020.11:38748508:G:A p.(Ala11Thr) NC_000020.11:38748508:G:A Identity +NM_001252338.2:c.2010A>T NP_001239267.1:p.Lys670Asn NC_000020.11:61929723:A:T p.(Lys670Asn) NC_000020.11:61929723:A:T p.(Lys670Asn) NC_000020.11:61929723:A:T Identity +NM_001317214.3:c.1487C>A NP_001304143.1:p.Pro496Gln NC_000018.10:65859038:C:A p.(Pro496Gln) NC_000018.10:65859038:C:A p.(Pro496Gln) NC_000018.10:65859038:C:A Identity +NM_001261435.1:c.1025C>T NP_001248364.1:p.Pro342Leu NC_000002.12:201872292:C:T p.(Pro342Leu) NC_000002.12:201872292:C:T p.(Pro342Leu) NC_000002.12:201872292:C:T Identity +NM_032251.6:c.4276C>G NP_115627.6:p.Pro1426Ala NC_000011.10:64355369:C:G p.(Pro1426Ala) NC_000011.10:64355369:C:G p.(Pro1426Ala) NC_000011.10:64355369:C:G Identity +NM_005195.4:c.187G>A NP_005186.2:p.Ala63Thr NC_000008.11:47737933:C:T p.(Ala63Thr) NC_000008.11:47737933:C:T p.(Ala63Thr) NC_000008.11:47737933:C:T Identity +NM_033440.3:c.797T>C NP_254275.1:p.Ile266Thr NC_000001.11:15471993:T:C p.(Ile266Thr) NC_000001.11:15471993:T:C p.(Ile266Thr) NC_000001.11:15471993:T:C Identity +NM_001378328.1:c.4109A>G NP_001365257.1:p.Asp1370Gly NC_000022.11:46463780:T:C p.(Asp1370Gly) NC_000022.11:46463780:T:C p.(Asp1370Gly) NC_000022.11:46463780:T:C Identity +NM_014603.3:c.1205G>A NP_055418.2:p.Arg402His NC_000017.11:75003880:G:A p.(Arg402His) NC_000017.11:75003880:G:A p.(Arg402His) NC_000017.11:75003880:G:A Identity +NM_001277163.3:c.269C>T NP_001264092.1:p.Thr90Ile NC_000019.10:41797792:C:T p.(Thr90Ile) NC_000019.10:41797792:C:T p.(Thr90Ile) NC_000019.10:41797792:C:T Identity +NM_001256030.2:c.81A>T NP_001242959.1:p.Gln27His NC_000001.11:160711682:T:A p.(Gln27His) NC_000001.11:160711682:T:A p.(Gln27His) NC_000001.11:160711682:T:A Identity +NM_001286734.2:c.7716G>C NP_001273663.1:p.Lys2572Asn NC_000004.12:103106248:C:G p.(Lys2572Asn) NC_000004.12:103106248:C:G p.(Lys2572Asn) NC_000004.12:103106248:C:G Identity +NM_018451.5:c.922A>G NP_060921.3:p.Lys308Glu NC_000013.11:24908069:T:C p.(Lys308Glu) NC_000013.11:24908069:T:C p.(Lys308Glu) NC_000013.11:24908069:T:C Identity +NM_001166226.2:c.2693T>C NP_001159698.1:p.Ile898Thr NC_000005.10:123346708:A:G p.(Ile898Thr) NC_000005.10:123346708:A:G p.(Ile898Thr) NC_000005.10:123346708:A:G Identity +NM_001204450.2:c.772A>G NP_001191379.1:p.Met258Val NC_000015.10:55365243:T:C p.(Met258Val) NC_000015.10:55365243:T:C p.(Met258Val) NC_000015.10:55365243:T:C Identity +NM_001370145.1:c.2369G>A NP_001357074.1:p.Gly790Glu NC_000012.12:7486587:C:T p.(Gly790Glu) NC_000012.12:7486587:C:T p.(Gly790Glu) NC_000012.12:7486587:C:T Identity +NM_015717.5:c.365A>G NP_056532.4:p.Gln122Arg NC_000002.12:70833845:T:C p.(Gln122Arg) NC_000002.12:70833845:T:C p.(Gln122Arg) NC_000002.12:70833845:T:C Identity +NM_015717.5:c.818A>G NP_056532.4:p.Asn273Ser NC_000002.12:70831718:T:C p.(Asn273Ser) NC_000002.12:70831718:T:C p.(Asn273Ser) NC_000002.12:70831718:T:C Identity +NM_152446.5:c.3107G>A NP_689659.2:p.Arg1036His NC_000014.9:80504985:C:T p.(Arg1036His) NC_000014.9:80504985:C:T p.(Arg1036His) NC_000014.9:80504985:C:T Identity +NM_001318219.1:c.359G>C NP_001305148.1:p.Arg120Pro NC_000020.11:35479390:G:C p.(Arg120Pro) NC_000020.11:35479390:G:C p.(Arg120Pro) NC_000020.11:35479390:G:C Identity +NM_025114.4:c.593G>A NP_079390.3:p.Arg198Lys NC_000012.12:88130343:C:T p.(Arg198Lys) NC_000012.12:88130343:C:T p.(Arg198Lys) NC_000012.12:88130343:C:T Identity +NM_001145400.2:c.977C>T NP_001138872.1:p.Pro326Leu NC_000016.10:84195621:C:T p.(Pro326Leu) NC_000016.10:84195621:C:T p.(Pro326Leu) NC_000016.10:84195621:C:T Identity +NM_001308392.2:c.813C>A NP_001295321.1:p.Ser271Arg NC_000016.10:64988342:G:T p.(Ser271Arg) NC_000016.10:64988342:G:T p.(Ser271Arg) NC_000016.10:64988342:G:T Identity +NM_001220488.2:c.2233A>C NP_001207417.1:p.Ser745Arg NC_000016.10:83783429:A:C p.(Ser745Arg) NC_000016.10:83783429:A:C p.(Ser745Arg) NC_000016.10:83783429:A:C Identity +NM_001030311.3:c.1311T>G NP_001025482.1:p.Cys437Trp NC_000002.12:181547652:A:C p.(Cys437Trp) NC_000002.12:181547652:A:C p.(Cys437Trp) NC_000002.12:181547652:A:C Identity +NM_001130105.1:c.1567T>G NP_001123577.1:p.Ser523Ala NC_000005.10:75399314:A:C p.(Ser523Ala) NC_000005.10:75399314:A:C p.(Ser523Ala) NC_000005.10:75399314:A:C Identity +NM_001012502.3:c.611G>A NP_001012520.2:p.Arg204His NC_000009.12:127711251:G:A p.(Arg204His) NC_000009.12:127711251:G:A p.(Arg204His) NC_000009.12:127711251:G:A Identity +NM_001178003.2:c.295G>A NP_001171474.1:p.Glu99Lys NC_000012.12:121921599:G:A p.(Glu99Lys) NC_000012.12:121921599:G:A p.(Glu99Lys) NC_000012.12:121921599:G:A Identity +NM_001178003.2:c.2518G>T NP_001171474.1:p.Gly840Cys NC_000012.12:121966979:G:T p.(Gly840Cys) NC_000012.12:121966979:G:T p.(Gly840Cys) NC_000012.12:121966979:G:T Identity +NM_001142302.2:c.919C>G NP_001135774.1:p.Arg307Gly NC_000016.10:58279723:C:G p.(Arg307Gly) NC_000016.10:58279723:C:G p.(Arg307Gly) NC_000016.10:58279723:C:G Identity +NM_000610.4:c.1655G>C NP_000601.3:p.Gly552Ala NC_000011.10:35211293:G:C p.(Gly552Ala) NC_000011.10:35211293:G:C p.(Gly552Ala) NC_000011.10:35211293:G:C Identity +NM_001252.5:c.377C>T NP_001243.1:p.Thr126Ile NC_000019.10:6586224:G:A p.(Thr126Ile) NC_000019.10:6586224:G:A p.(Thr126Ile) NC_000019.10:6586224:G:A Identity +NM_001171968.3:c.794C>T NP_001165439.2:p.Ser265Phe NC_000011.10:620381:G:A p.(Ser265Phe) NC_000011.10:620381:G:A p.(Ser265Phe) NC_000011.10:620381:G:A Identity +NM_015083.4:c.3724C>G NP_055898.1:p.Arg1242Gly NC_000017.11:39526279:C:G p.(Arg1242Gly) NC_000017.11:39526279:C:G p.(Arg1242Gly) NC_000017.11:39526279:C:G Identity +NM_001039803.3:c.673C>T NP_001034892.1:p.Pro225Ser NC_000009.12:87969809:G:A p.(Pro225Ser) NC_000009.12:87969809:G:A p.(Pro225Ser) NC_000009.12:87969809:G:A Identity +NM_001286206.2:c.374A>G NP_001273135.1:p.Tyr125Cys NC_000006.12:84204065:T:C p.(Tyr125Cys) NC_000006.12:84204065:T:C p.(Tyr125Cys) NC_000006.12:84204065:T:C Identity +NM_022842.5:c.2008C>G NP_073753.3:p.Leu670Val NC_000003.12:45089126:G:C p.(Leu670Val) NC_000003.12:45089126:G:C p.(Leu670Val) NC_000003.12:45089126:G:C Identity +NM_022842.5:c.1852A>C NP_073753.3:p.Ile618Leu NC_000003.12:45091313:T:G p.(Ile618Leu) NC_000003.12:45091313:T:G p.(Ile618Leu) NC_000003.12:45091313:T:G Identity +NM_031891.4:c.1943A>C NP_114097.2:p.Gln648Pro NC_000018.10:61554231:A:C p.(Gln648Pro) NC_000018.10:61554231:A:C p.(Gln648Pro) NC_000018.10:61554231:A:C Identity +NM_001171930.2:c.2098C>G NP_001165401.1:p.Arg700Gly NC_000010.11:71690505:C:G p.(Arg700Gly) NC_000010.11:71690505:C:G p.(Arg700Gly) NC_000010.11:71690505:C:G Identity +NM_177980.4:c.326A>G NP_817089.1:p.Glu109Gly NC_000020.11:59972055:A:G p.(Glu109Gly) NC_000020.11:59972055:A:G p.(Glu109Gly) NC_000020.11:59972055:A:G Identity +NM_001200049.3:c.7897G>A NP_001186978.2:p.Ala2633Thr NC_000010.11:132808671:C:T p.(Ala2633Thr) NC_000010.11:132808671:C:T p.(Ala2633Thr) NC_000010.11:132808671:C:T Identity +NM_001008723.2:c.638G>A NP_001008723.1:p.Arg213Gln NC_000010.11:104365853:G:A p.(Arg213Gln) NC_000010.11:104365853:G:A p.(Arg213Gln) NC_000010.11:104365853:G:A Identity +NM_001304360.2:c.172A>G NP_001291289.1:p.Thr58Ala NC_000001.11:1988635:T:C p.(Thr58Ala) NC_000001.11:1988635:T:C p.(Thr58Ala) NC_000001.11:1988635:T:C Identity +NM_001282957.2:c.796C>T NP_001269886.1:p.Arg266Trp NC_000009.12:132572450:C:T p.(Arg266Trp) NC_000009.12:132572450:C:T p.(Arg266Trp) NC_000009.12:132572450:C:T Identity +NM_020827.3:c.1582C>T NP_065878.1:p.Arg528Cys NC_000004.12:185162814:G:A p.(Arg528Cys) NC_000004.12:185162814:G:A p.(Arg528Cys) NC_000004.12:185162814:G:A Identity +NM_000492.4:c.3646A>G NP_000483.3:p.Thr1216Ala NC_000007.14:117627698:A:G p.(Thr1216Ala) NC_000007.14:117627698:A:G p.(Thr1216Ala) NC_000007.14:117627698:A:G Identity +NM_033274.5:c.512C>T NP_150377.1:p.Pro171Leu NC_000005.10:157519926:G:A p.(Pro171Leu) NC_000005.10:157519926:G:A p.(Pro171Leu) NC_000005.10:157519926:G:A Identity +NM_000077.5:c.279G>A NP_000068.1:p.Thr93= NC_000009.12:21971079:C:T p.(Thr93=) NC_000009.12:21971079:C:T p.(Thr93=) NC_000009.12:21971079:C:T Identity +NM_005483.3:c.938C>T NP_005474.2:p.Pro313Leu NC_000019.10:4409736:C:T p.(Pro313Leu) NC_000019.10:4409736:C:T p.(Pro313Leu) NC_000019.10:4409736:C:T Identity +NM_015557.3:c.113A>T NP_056372.1:p.Asp38Val NC_000001.11:6168243:T:A p.(Asp38Val) NC_000001.11:6168243:T:A p.(Asp38Val) NC_000001.11:6168243:T:A Identity +NM_014810.5:c.548G>A NP_055625.4:p.Ser183Asn NC_000001.11:179996704:G:A p.(Ser183Asn) NC_000001.11:179996704:G:A p.(Ser183Asn) NC_000001.11:179996704:G:A Identity +NM_014810.5:c.5509A>G NP_055625.4:p.Ser1837Gly NC_000001.11:180065213:A:G p.(Ser1837Gly) NC_000001.11:180065213:A:G p.(Ser1837Gly) NC_000001.11:180065213:A:G Identity +NM_001278690.2:c.828A>C NP_001265619.1:p.Lys276Asn NC_000006.12:167026595:A:C p.(Lys276Asn) NC_000006.12:167026595:A:C p.(Lys276Asn) NC_000006.12:167026595:A:C Identity +NM_001796.5:c.1586A>G NP_001787.2:p.His529Arg NC_000016.10:61713908:T:C p.(His529Arg) NC_000016.10:61713908:T:C p.(His529Arg) NC_000016.10:61713908:T:C Identity +NM_001171971.3:c.476C>T NP_001165442.1:p.Ala159Val NC_000010.11:84200637:C:T p.(Ala159Val) NC_000010.11:84200637:C:T p.(Ala159Val) NC_000010.11:84200637:C:T Identity +NM_001378328.1:c.4034A>C NP_001365257.1:p.Asn1345Thr NC_000022.11:46463855:T:G p.(Asn1345Thr) NC_000022.11:46463855:T:G p.(Asn1345Thr) NC_000022.11:46463855:T:G Identity +NM_001378328.1:c.4092C>G NP_001365257.1:p.Ile1364Met NC_000022.11:46463797:G:C p.(Ile1364Met) NC_000022.11:46463797:G:C p.(Ile1364Met) NC_000022.11:46463797:G:C Identity +NM_001408.3:c.8540T>A NP_001399.1:p.Ile2847Asn NC_000001.11:109273465:T:A p.(Ile2847Asn) NC_000001.11:109273465:T:A p.(Ile2847Asn) NC_000001.11:109273465:T:A Identity +NM_001293298.2:c.784C>A NP_001280227.1:p.His262Asn NC_000015.10:80884340:C:A p.(His262Asn) NC_000015.10:80884340:C:A p.(His262Asn) NC_000015.10:80884340:C:A Identity +NM_001286734.2:c.1979A>G NP_001273663.1:p.Asp660Gly NC_000004.12:103161162:T:C p.(Asp660Gly) NC_000004.12:103161162:T:C p.(Asp660Gly) NC_000004.12:103161162:T:C Identity +NM_025082.4:c.1412C>T NP_079358.3:p.Ala471Val NC_000016.10:67828711:G:A p.(Ala471Val) NC_000016.10:67828711:G:A p.(Ala471Val) NC_000016.10:67828711:G:A Identity +NM_001271933.2:c.3201G>C NP_001258862.1:p.Glu1067Asp NC_000011.10:117396155:G:C p.(Glu1067Asp) NC_000011.10:117396155:G:C p.(Glu1067Asp) NC_000011.10:117396155:G:C Identity +NM_001112726.3:c.40G>C NP_001106197.1:p.Ala14Pro NC_000014.9:104868489:G:C p.(Ala14Pro) NC_000014.9:104868489:G:C p.(Ala14Pro) NC_000014.9:104868489:G:C Identity +NM_033395.2:c.3695G>A NP_203753.1:p.Ser1232Asn NC_000011.10:93698606:G:A p.(Ser1232Asn) NC_000011.10:93698606:G:A p.(Ser1232Asn) NC_000011.10:93698606:G:A Identity +NM_001288964.2:c.1381G>A NP_001275893.1:p.Val461Met NC_000003.12:138500500:C:T p.(Val461Met) NC_000003.12:138500500:C:T p.(Val461Met) NC_000003.12:138500500:C:T Identity +NM_032816.5:c.383A>G NP_116205.3:p.Asp128Gly NC_000019.10:32953723:T:C p.(Asp128Gly) NC_000019.10:32953723:T:C p.(Asp128Gly) NC_000019.10:32953723:T:C Identity +NM_024552.3:c.83G>A NP_078828.2:p.Arg28Gln NC_000019.10:8251158:G:A p.(Arg28Gln) NC_000019.10:8251158:G:A p.(Arg28Gln) NC_000019.10:8251158:G:A Identity +NM_006988.5:c.2435G>A NP_008919.3:p.Arg812His NC_000021.9:26838047:C:T p.(Arg812His) NC_000021.9:26838047:C:T p.(Arg812His) NC_000021.9:26838047:C:T Identity +NM_001167965.1:c.283C>T NP_001161437.1:p.Arg95Trp NC_000001.11:43181658:C:T p.(Arg95Trp) NC_000001.11:43181658:C:T p.(Arg95Trp) NC_000001.11:43181658:C:T Identity +NM_001320316.2:c.1469A>G NP_001307245.2:p.Asn490Ser NC_000003.12:119739321:A:G p.(Asn490Ser) NC_000003.12:119739321:A:G p.(Asn490Ser) NC_000003.12:119739321:A:G Identity +NM_003813.4:c.1895A>T NP_003804.2:p.His632Leu NC_000014.9:70459393:A:T p.(His632Leu) NC_000014.9:70459393:A:T p.(His632Leu) NC_000014.9:70459393:A:T Identity +NM_001282957.2:c.391G>C NP_001269886.1:p.Gly131Arg NC_000009.12:132499466:G:C p.(Gly131Arg) NC_000009.12:132499466:G:C p.(Gly131Arg) NC_000009.12:132499466:G:C Identity +NM_000186.4:c.3535A>T NP_000177.2:p.Ile1179Leu NC_000001.11:196747151:A:T p.(Ile1179Leu) NC_000001.11:196747151:A:T p.(Ile1179Leu) NC_000001.11:196747151:A:T Identity +NM_000492.4:c.3163C>T NP_000483.3:p.Leu1055Phe NC_000007.14:117611603:C:T p.(Leu1055Phe) NC_000007.14:117611603:C:T p.(Leu1055Phe) NC_000007.14:117611603:C:T Identity +NM_020770.3:c.2953G>A NP_065821.1:p.Val985Met NC_000001.11:151535089:G:A p.(Val985Met) NC_000001.11:151535089:G:A p.(Val985Met) NC_000001.11:151535089:G:A Identity +NM_001252335.2:c.3499A>T NP_001239264.1:p.Arg1167Trp NC_000015.10:57544595:A:T p.(Arg1167Trp) NC_000015.10:57544595:A:T p.(Arg1167Trp) NC_000015.10:57544595:A:T Identity +NM_003956.4:c.568G>C NP_003947.1:p.Val190Leu NC_000010.11:89206724:C:G p.(Val190Leu) NC_000010.11:89206724:C:G p.(Val190Leu) NC_000010.11:89206724:C:G Identity +NM_001005271.3:c.4082T>C NP_001005271.2:p.Ile1361Thr NC_000017.11:7904451:T:C p.(Ile1361Thr) NC_000017.11:7904451:T:C p.(Ile1361Thr) NC_000017.11:7904451:T:C Identity +NM_015557.3:c.5245G>A NP_056372.1:p.Val1749Met NC_000001.11:6111778:C:T p.(Val1749Met) NC_000001.11:6111778:C:T p.(Val1749Met) NC_000001.11:6111778:C:T Identity +NM_016343.4:c.512A>G NP_057427.3:p.Tyr171Cys NC_000001.11:214619158:A:G p.(Tyr171Cys) NC_000001.11:214619158:A:G p.(Tyr171Cys) NC_000001.11:214619158:A:G Identity +NM_001037325.3:c.445G>C NP_001032402.1:p.Glu149Gln NC_000017.11:65689148:C:G p.(Glu149Gln) NC_000017.11:65689148:C:G p.(Glu149Gln) NC_000017.11:65689148:C:G Identity +NM_032221.5:c.6536G>A NP_115597.3:p.Arg2179His NC_000020.11:41415588:C:T p.(Arg2179His) NC_000020.11:41415588:C:T p.(Arg2179His) NC_000020.11:41415588:C:T Identity +NM_001170629.2:c.721C>A NP_001164100.1:p.Pro241Thr NC_000014.9:21430922:G:T p.(Pro241Thr) NC_000014.9:21430922:G:T p.(Pro241Thr) NC_000014.9:21430922:G:T Identity +NM_017780.4:c.7726G>A NP_060250.2:p.Asp2576Asn NC_000008.11:60861020:G:A p.(Asp2576Asn) NC_000008.11:60861020:G:A p.(Asp2576Asn) NC_000008.11:60861020:G:A Identity +NM_001308319.2:c.6979C>T NP_001295248.1:p.His2327Tyr NC_000016.10:53307878:C:T p.(His2327Tyr) NC_000016.10:53307878:C:T p.(His2327Tyr) NC_000016.10:53307878:C:T Identity +NM_139057.4:c.1504G>A NP_620688.2:p.Val502Ile NC_000015.10:100133284:C:T p.(Val502Ile) NC_000015.10:100133284:C:T p.(Val502Ile) NC_000015.10:100133284:C:T Identity +NM_006387.6:c.212A>G NP_006378.3:p.Gln71Arg NC_000019.10:16535623:T:C p.(Gln71Arg) NC_000019.10:16535623:T:C p.(Gln71Arg) NC_000019.10:16535623:T:C Identity +NM_020412.5:c.506C>T NP_065145.2:p.Pro169Leu NC_000018.10:11852016:C:T p.(Pro169Leu) NC_000018.10:11852016:C:T p.(Pro169Leu) NC_000018.10:11852016:C:T Identity +NM_153221.2:c.3284A>T NP_694953.2:p.Asp1095Val NC_000019.10:19545828:A:T p.(Asp1095Val) NC_000019.10:19545828:A:T p.(Asp1095Val) NC_000019.10:19545828:A:T Identity +NM_020890.3:c.846C>A NP_065941.2:p.His282Gln NC_000003.12:108576318:G:T p.(His282Gln) NC_000003.12:108576318:G:T p.(His282Gln) NC_000003.12:108576318:G:T Identity +NM_012128.4:c.809G>T NP_036260.2:p.Arg270Ile NC_000001.11:86565874:G:T p.(Arg270Ile) NC_000001.11:86565874:G:T p.(Arg270Ile) NC_000001.11:86565874:G:T Identity +NM_001112726.3:c.4516G>A NP_001106197.1:p.Val1506Met NC_000014.9:104894808:G:A p.(Val1506Met) NC_000014.9:104894808:G:A p.(Val1506Met) NC_000014.9:104894808:G:A Identity +NM_033395.2:c.6371C>T NP_203753.1:p.Thr2124Ile NC_000011.10:93725702:C:T p.(Thr2124Ile) NC_000011.10:93725702:C:T p.(Thr2124Ile) NC_000011.10:93725702:C:T Identity +NM_000390.4:c.397G>A NP_000381.1:p.Ala133Thr NC_000023.11:85963969:C:T p.(Ala133Thr) NC_000023.11:85963969:C:T p.(Ala133Thr) NC_000023.11:85963969:C:T Identity +NM_001040182.2:c.32C>T NP_001035272.1:p.Ser11Phe NC_000003.12:98521671:G:A p.(Ser11Phe) NC_000003.12:98521671:G:A p.(Ser11Phe) NC_000003.12:98521671:G:A Identity +NM_016184.4:c.62T>C NP_057268.1:p.Ile21Thr NC_000012.12:8123939:T:C p.(Ile21Thr) NC_000012.12:8123939:T:C p.(Ile21Thr) NC_000012.12:8123939:T:C Identity +NM_001278473.3:c.277C>A NP_001265402.1:p.Pro93Thr NC_000011.10:74713397:G:T p.(Pro93Thr) NC_000011.10:74713397:G:T p.(Pro93Thr) NC_000011.10:74713397:G:T Identity +NM_000742.4:c.773C>A NP_000733.2:p.Ala258Asp NC_000008.11:27463669:G:T p.(Ala258Asp) NC_000008.11:27463669:G:T p.(Ala258Asp) NC_000008.11:27463669:G:T Identity +NM_001304799.2:c.787G>T NP_001291728.1:p.Ala263Ser NC_000016.10:730941:C:A p.(Ala263Ser) NC_000016.10:730941:C:A p.(Ala263Ser) NC_000016.10:730941:C:A Identity +NM_001292033.2:c.1010A>G NP_001278962.1:p.Gln337Arg NC_000004.12:185190186:T:C p.(Gln337Arg) NC_000004.12:185190186:T:C p.(Gln337Arg) NC_000004.12:185190186:T:C Identity +NM_001320327.2:c.29C>G NP_001307256.1:p.Ser10Cys NC_000007.14:56106384:G:C p.(Ser10Cys) NC_000007.14:56106384:G:C p.(Ser10Cys) NC_000007.14:56106384:G:C Identity +NM_001308319.2:c.1937C>T NP_001295248.1:p.Ala646Val NC_000016.10:53226405:C:T p.(Ala646Val) NC_000016.10:53226405:C:T p.(Ala646Val) NC_000016.10:53226405:C:T Identity +NM_001275.4:c.335G>A NP_001266.1:p.Ser112Asn NC_000014.9:92929794:G:A p.(Ser112Asn) NC_000014.9:92929794:G:A p.(Ser112Asn) NC_000014.9:92929794:G:A Identity +NM_001142674.2:c.956C>T NP_001136146.1:p.Ala319Val NC_000011.10:883150:G:A p.(Ala319Val) NC_000011.10:883150:G:A p.(Ala319Val) NC_000011.10:883150:G:A Identity +NM_152889.3:c.377C>A NP_690849.1:p.Ala126Glu NC_000003.12:126541928:C:A p.(Ala126Glu) NC_000003.12:126541928:C:A p.(Ala126Glu) NC_000003.12:126541928:C:A Identity +NM_001173982.2:c.29G>A NP_001167453.1:p.Arg10Lys NC_000012.12:104457439:G:A p.(Arg10Lys) NC_000012.12:104457439:G:A p.(Arg10Lys) NC_000012.12:104457439:G:A Identity +NM_001300922.2:c.262C>T NP_001287851.1:p.Arg88Trp NC_000019.10:16164850:G:A p.(Arg88Trp) NC_000019.10:16164850:G:A p.(Arg88Trp) NC_000019.10:16164850:G:A Identity +NM_003613.4:c.1889G>A NP_003604.4:p.Arg630Gln NC_000015.10:65198396:C:T p.(Arg630Gln) NC_000015.10:65198396:C:T p.(Arg630Gln) NC_000015.10:65198396:C:T Identity +NM_153221.2:c.913G>T NP_694953.2:p.Ala305Ser NC_000019.10:19542907:G:T p.(Ala305Ser) NC_000019.10:19542907:G:T p.(Ala305Ser) NC_000019.10:19542907:G:T Identity +NM_001267843.2:c.55A>G NP_001254772.1:p.Ser19Gly NC_000004.12:55479691:T:C p.(Ser19Gly) NC_000004.12:55479691:T:C p.(Ser19Gly) NC_000004.12:55479691:T:C Identity +NM_030782.5:c.379G>C NP_110409.2:p.Val127Leu NC_000005.10:1341744:C:G p.(Val127Leu) NC_000005.10:1341744:C:G p.(Val127Leu) NC_000005.10:1341744:C:G Identity +NM_001835.4:c.4286G>A NP_001826.3:p.Arg1429Gln NC_000022.11:19191340:C:T p.(Arg1429Gln) NC_000022.11:19191340:C:T p.(Arg1429Gln) NC_000022.11:19191340:C:T Identity +NM_153610.5:c.12064T>C NP_705838.3:p.Phe4022Leu NC_000005.10:79799469:T:C p.(Phe4022Leu) NC_000005.10:79799469:T:C p.(Phe4022Leu) NC_000005.10:79799469:T:C Identity +NM_001304361.2:c.547C>T NP_001291290.1:p.His183Tyr NC_000002.12:112756328:G:A p.(His183Tyr) NC_000002.12:112756328:G:A p.(His183Tyr) NC_000002.12:112756328:G:A Identity +NM_001142273.2:c.1264G>A NP_001135745.1:p.Ala422Thr NC_000002.12:121458889:C:T p.(Ala422Thr) NC_000002.12:121458889:C:T p.(Ala422Thr) NC_000002.12:121458889:C:T Identity +NM_012128.4:c.2143C>T NP_036260.2:p.Pro715Ser NC_000001.11:86579373:C:T p.(Pro715Ser) NC_000001.11:86579373:C:T p.(Pro715Ser) NC_000001.11:86579373:C:T Identity +NM_153221.2:c.220T>A NP_694953.2:p.Phe74Ile NC_000019.10:19540259:T:A p.(Phe74Ile) NC_000019.10:19540259:T:A p.(Phe74Ile) NC_000019.10:19540259:T:A Identity +NM_001385597.1:c.640G>A NP_001372526.1:p.Val214Met NC_000019.10:463965:C:T p.(Val214Met) NC_000019.10:463965:C:T p.(Val214Met) NC_000019.10:463965:C:T Identity +NM_001136498.2:c.188G>A NP_001129970.1:p.Gly63Asp NC_000017.11:38731422:G:A p.(Gly63Asp) NC_000017.11:38731422:G:A p.(Gly63Asp) NC_000017.11:38731422:G:A Identity +NM_001008938.4:c.1991T>C NP_001008938.1:p.Ile664Thr NC_000011.10:46784650:A:G p.(Ile664Thr) NC_000011.10:46784650:A:G p.(Ile664Thr) NC_000011.10:46784650:A:G Identity +NM_152353.3:c.265G>A NP_689566.1:p.Glu89Lys NC_000019.10:51367930:C:T p.(Glu89Lys) NC_000019.10:51367930:C:T p.(Glu89Lys) NC_000019.10:51367930:C:T Identity +NM_001243403.2:c.1877C>T NP_001230332.1:p.Thr626Met NC_000016.10:11051576:C:T p.(Thr626Met) NC_000016.10:11051576:C:T p.(Thr626Met) NC_000016.10:11051576:C:T Identity +NM_001301167.2:c.335G>A NP_001288096.1:p.Arg112His NC_000007.14:141931767:C:T p.(Arg112His) NC_000007.14:141931767:C:T p.(Arg112His) NC_000007.14:141931767:C:T Identity +NM_007038.5:c.1724C>A NP_008969.2:p.Ser575Tyr NC_000021.9:26933009:G:T p.(Ser575Tyr) NC_000021.9:26933009:G:T p.(Ser575Tyr) NC_000021.9:26933009:G:T Identity +NM_014272.5:c.2836T>A NP_055087.2:p.Trp946Arg NC_000015.10:78767401:A:T p.(Trp946Arg) NC_000015.10:78767401:A:T p.(Trp946Arg) NC_000015.10:78767401:A:T Identity +NM_001199570.2:c.821A>G NP_001186499.1:p.Lys274Arg NC_000019.10:36024492:T:C p.(Lys274Arg) NC_000019.10:36024492:T:C p.(Lys274Arg) NC_000019.10:36024492:T:C Identity +NM_024734.4:c.1823G>C NP_079010.2:p.Arg608Thr NC_000014.9:95203525:C:G p.(Arg608Thr) NC_000014.9:95203525:C:G p.(Arg608Thr) NC_000014.9:95203525:C:G Identity +NM_001243403.2:c.1845G>A NP_001230332.1:p.Met615Ile NC_000016.10:11051544:G:A p.(Met615Ile) NC_000016.10:11051544:G:A p.(Met615Ile) NC_000016.10:11051544:G:A Identity +NM_001243403.2:c.283G>A NP_001230332.1:p.Val95Ile NC_000016.10:10962527:G:A p.(Val95Ile) NC_000016.10:10962527:G:A p.(Val95Ile) NC_000016.10:10962527:G:A Identity +NM_024734.4:c.1697T>C NP_079010.2:p.Phe566Ser NC_000014.9:95203651:A:G p.(Phe566Ser) NC_000014.9:95203651:A:G p.(Phe566Ser) NC_000014.9:95203651:A:G Identity +NM_153610.5:c.11476C>T NP_705838.3:p.Arg3826Trp NC_000005.10:79763129:C:T p.(Arg3826Trp) NC_000005.10:79763129:C:T p.(Arg3826Trp) NC_000005.10:79763129:C:T Identity +NM_153610.5:c.6275G>T NP_705838.3:p.Ser2092Ile NC_000005.10:79735039:G:T p.(Ser2092Ile) NC_000005.10:79735039:G:T p.(Ser2092Ile) NC_000005.10:79735039:G:T Identity +NM_001331185.2:c.172G>A NP_001318114.1:p.Glu58Lys NC_000003.12:28263310:G:A p.(Glu58Lys) NC_000003.12:28263310:G:A p.(Glu58Lys) NC_000003.12:28263310:G:A Identity +NM_001363918.2:c.499A>C NP_001350847.1:p.Thr167Pro NC_000016.10:66609981:A:C p.(Thr167Pro) NC_000016.10:66609981:A:C p.(Thr167Pro) NC_000016.10:66609981:A:C Identity +NM_153610.5:c.670A>C NP_705838.3:p.Thr224Pro NC_000005.10:79729434:A:C p.(Thr224Pro) NC_000005.10:79729434:A:C p.(Thr224Pro) NC_000005.10:79729434:A:C Identity +NM_001127192.2:c.467G>C NP_001120664.1:p.Ser156Thr NC_000003.12:129170525:C:G p.(Ser156Thr) NC_000003.12:129170525:C:G p.(Ser156Thr) NC_000003.12:129170525:C:G Identity +NM_005140.3:c.124G>C NP_005131.1:p.Ala42Pro NC_000023.11:151738799:G:C p.(Ala42Pro) NC_000023.11:151738799:G:C p.(Ala42Pro) NC_000023.11:151738799:G:C Identity +NM_005140.3:c.583C>T NP_005131.1:p.Arg195Cys NC_000023.11:151742635:C:T p.(Arg195Cys) NC_000023.11:151742635:C:T p.(Arg195Cys) NC_000023.11:151742635:C:T Identity +NM_001368116.1:c.1087C>T NP_001355045.1:p.Arg363Trp NC_000006.12:154414299:G:A p.(Arg363Trp) NC_000006.12:154414299:G:A p.(Arg363Trp) NC_000006.12:154414299:G:A Identity +NM_017623.5:c.1360G>A NP_060093.3:p.Glu454Lys NC_000002.12:96825191:G:A p.(Glu454Lys) NC_000002.12:96825191:G:A p.(Glu454Lys) NC_000002.12:96825191:G:A Identity +NM_001265612.2:c.5432A>G NP_001252541.1:p.Asn1811Ser NC_000016.10:58537187:T:C p.(Asn1811Ser) NC_000016.10:58537187:T:C p.(Asn1811Ser) NC_000016.10:58537187:T:C Identity +NM_019098.5:c.208C>G NP_061971.3:p.Gln70Glu NC_000008.11:86739657:G:C p.(Gln70Glu) NC_000008.11:86739657:G:C p.(Gln70Glu) NC_000008.11:86739657:G:C Identity +NM_001256741.2:c.1082G>C NP_001243670.1:p.Cys361Ser NC_000003.12:32727736:G:C p.(Cys361Ser) NC_000003.12:32727736:G:C p.(Cys361Ser) NC_000003.12:32727736:G:C Identity +NM_001365029.1:c.3526A>G NP_001351958.1:p.Lys1176Glu NC_000009.12:17464620:A:G p.(Lys1176Glu) NC_000009.12:17464620:A:G p.(Lys1176Glu) NC_000009.12:17464620:A:G Identity +NM_001303499.2:c.103C>T NP_001290428.1:p.Arg35Cys NC_000019.10:1031109:C:T p.(Arg35Cys) NC_000019.10:1031109:C:T p.(Arg35Cys) NC_000019.10:1031109:C:T Identity +NM_001265612.2:c.1844C>T NP_001252541.1:p.Ala615Val NC_000016.10:58574743:G:A p.(Ala615Val) NC_000016.10:58574743:G:A p.(Ala615Val) NC_000016.10:58574743:G:A Identity +NM_001199302.2:c.1343A>G NP_001186231.1:p.Tyr448Cys NC_000012.12:70344179:A:G p.(Tyr448Cys) NC_000012.12:70344179:A:G p.(Tyr448Cys) NC_000012.12:70344179:A:G Identity +NM_001190849.2:c.1720T>G NP_001177778.1:p.Ser574Ala NC_000007.14:135363964:A:C p.(Ser574Ala) NC_000007.14:135363964:A:C p.(Ser574Ala) NC_000007.14:135363964:A:C Identity +NM_001040272.6:c.4777G>A NP_001035362.3:p.Ala1593Thr NC_000009.12:18892521:G:A p.(Ala1593Thr) NC_000009.12:18892521:G:A p.(Ala1593Thr) NC_000009.12:18892521:G:A Identity +NM_001201380.3:c.1346A>T NP_001188309.2:p.Asn449Ile NC_000009.12:41986298:T:A p.(Asn449Ile) NC_000009.12:41986298:T:A p.(Asn449Ile) NC_000009.12:41986298:T:A Identity +NM_001195139.2:c.54G>C NP_001182068.2:p.Glu18Asp NC_000016.10:70523477:C:G p.(Glu18Asp) NC_000016.10:70523477:C:G p.(Glu18Asp) NC_000016.10:70523477:C:G Identity +NM_001324444.2:c.380C>T NP_001311373.1:p.Ala127Val NC_000016.10:75612458:G:A p.(Ala127Val) NC_000016.10:75612458:G:A p.(Ala127Val) NC_000016.10:75612458:G:A Identity +NM_001850.5:c.65T>G NP_001841.2:p.Ile22Ser NC_000003.12:99790746:T:G p.(Ile22Ser) NC_000003.12:99790746:T:G p.(Ile22Ser) NC_000003.12:99790746:T:G Identity +NM_001287436.3:c.323G>A NP_001274365.1:p.Arg108Gln NC_000007.14:51193511:C:T p.(Arg108Gln) NC_000007.14:51193511:C:T p.(Arg108Gln) NC_000007.14:51193511:C:T Identity +NM_001424113.1:c.1067C>A NP_001411042.1:p.Pro356Gln NC_000006.12:75184074:G:T p.(Pro356Gln) NC_000006.12:75184074:G:T p.(Pro356Gln) NC_000006.12:75184074:G:T Identity +NM_001040431.3:c.181G>A NP_001035521.1:p.Gly61Ser NC_000017.11:42798500:C:T p.(Gly61Ser) NC_000017.11:42798500:C:T p.(Gly61Ser) NC_000017.11:42798500:C:T Identity +NM_001302653.2:c.185A>G NP_001289582.2:p.Tyr62Cys NC_000014.9:103571683:A:G p.(Tyr62Cys) NC_000014.9:103571683:A:G p.(Tyr62Cys) NC_000014.9:103571683:A:G Identity +NM_152888.3:c.1787G>A NP_690848.1:p.Gly596Glu NC_000008.11:138775981:C:T p.(Gly596Glu) NC_000008.11:138775981:C:T p.(Gly596Glu) NC_000008.11:138775981:C:T Identity +NM_001278585.2:c.2795T>A NP_001265514.1:p.Ile932Asn NC_000004.12:47595742:A:T p.(Ile932Asn) NC_000004.12:47595742:A:T p.(Ile932Asn) NC_000004.12:47595742:A:T Identity +NM_024656.4:c.1194C>G NP_078932.2:p.Asp398Glu NC_000019.10:17578016:C:G p.(Asp398Glu) NC_000019.10:17578016:C:G p.(Asp398Glu) NC_000019.10:17578016:C:G Identity +NM_001018070.3:c.722G>A NP_001018080.1:p.Arg241Gln NC_000011.10:67441158:C:T p.(Arg241Gln) NC_000011.10:67441158:C:T p.(Arg241Gln) NC_000011.10:67441158:C:T Identity +NM_001018070.3:c.1106G>C NP_001018080.1:p.Gly369Ala NC_000011.10:67438908:C:G p.(Gly369Ala) NC_000011.10:67438908:C:G p.(Gly369Ala) NC_000011.10:67438908:C:G Identity +NM_000096.4:c.2128A>G NP_000087.2:p.Lys710Glu NC_000003.12:149185395:T:C p.(Lys710Glu) NC_000003.12:149185395:T:C p.(Lys710Glu) NC_000003.12:149185395:T:C Identity +NM_001127441.2:c.1118C>T NP_001120913.1:p.Thr373Ile NC_000007.14:130367984:C:T p.(Thr373Ile) NC_000007.14:130367984:C:T p.(Thr373Ile) NC_000007.14:130367984:C:T Identity +NM_001379500.1:c.3695A>C NP_001366429.1:p.Asp1232Ala NC_000021.9:45511111:A:C p.(Asp1232Ala) NC_000021.9:45511111:A:C p.(Asp1232Ala) NC_000021.9:45511111:A:C Identity +NM_001367197.1:c.455G>A NP_001354126.1:p.Arg152His NC_000019.10:1508506:C:T p.(Arg152His) NC_000019.10:1508506:C:T p.(Arg152His) NC_000019.10:1508506:C:T Identity +NM_032888.4:c.1210C>G NP_116277.2:p.Gln404Glu NC_000009.12:114168764:C:G p.(Gln404Glu) NC_000009.12:114168764:C:G p.(Gln404Glu) NC_000009.12:114168764:C:G Identity +NM_015719.4:c.28C>T NP_056534.2:p.Pro10Ser NC_000019.10:10010357:G:A p.(Pro10Ser) NC_000019.10:10010357:G:A p.(Pro10Ser) NC_000019.10:10010357:G:A Identity +NM_015719.4:c.4360G>T NP_056534.2:p.Gly1454Cys NC_000019.10:9968033:C:A p.(Gly1454Cys) NC_000019.10:9968033:C:A p.(Gly1454Cys) NC_000019.10:9968033:C:A Identity +NM_001853.4:c.2039G>C NP_001844.3:p.Gly680Ala NC_000020.11:62840715:G:C p.(Gly680Ala) NC_000020.11:62840715:G:C p.(Gly680Ala) NC_000020.11:62840715:G:C Identity +NM_024656.4:c.976C>T NP_078932.2:p.Arg326Cys NC_000019.10:17577220:C:T p.(Arg326Cys) NC_000019.10:17577220:C:T p.(Arg326Cys) NC_000019.10:17577220:C:T Identity +NM_001330469.2:c.73G>A NP_001317398.1:p.Ala25Thr NC_000019.10:18919275:C:T p.(Ala25Thr) NC_000019.10:18919275:C:T p.(Ala25Thr) NC_000019.10:18919275:C:T Identity +NM_001330176.2:c.155A>G NP_001317105.1:p.Asn52Ser NC_000017.11:31853005:T:C p.(Asn52Ser) NC_000017.11:31853005:T:C p.(Asn52Ser) NC_000017.11:31853005:T:C Identity +NM_173077.3:c.391G>C NP_775100.1:p.Asp131His NC_000002.12:206959648:G:C p.(Asp131His) NC_000002.12:206959648:G:C p.(Asp131His) NC_000002.12:206959648:G:C Identity +NM_018340.3:c.415G>A NP_060810.2:p.Val139Ile NC_000016.10:12704923:C:T p.(Val139Ile) NC_000016.10:12704923:C:T p.(Val139Ile) NC_000016.10:12704923:C:T Identity +NM_001852.4:c.260G>A NP_001843.1:p.Gly87Glu NC_000001.11:40312773:C:T p.(Gly87Glu) NC_000001.11:40312773:C:T p.(Gly87Glu) NC_000001.11:40312773:C:T Identity +NM_001018070.3:c.957G>A NP_001018080.1:p.Met319Ile NC_000011.10:67440167:C:T p.(Met319Ile) NC_000011.10:67440167:C:T p.(Met319Ile) NC_000011.10:67440167:C:T Identity +NM_001868.4:c.845C>T NP_001859.1:p.Ser282Phe NC_000007.14:130385202:C:T p.(Ser282Phe) NC_000007.14:130385202:C:T p.(Ser282Phe) NC_000007.14:130385202:C:T Identity +NM_174922.5:c.1442T>C NP_777582.4:p.Leu481Pro NC_000008.11:144392618:T:C p.(Leu481Pro) NC_000008.11:144392618:T:C p.(Leu481Pro) NC_000008.11:144392618:T:C Identity +NM_019609.5:c.1553G>A NP_062555.1:p.Arg518His NC_000020.11:2795765:C:T p.(Arg518His) NC_000020.11:2795765:C:T p.(Arg518His) NC_000020.11:2795765:C:T Identity +NM_153836.4:c.275C>T NP_722578.1:p.Ala92Val NC_000002.12:101387182:G:A p.(Ala92Val) NC_000002.12:101387182:G:A p.(Ala92Val) NC_000002.12:101387182:G:A Identity +NM_001297732.2:c.566G>A NP_001284661.1:p.Arg189Gln NC_000004.12:73065281:C:T p.(Arg189Gln) NC_000004.12:73065281:C:T p.(Arg189Gln) NC_000004.12:73065281:C:T Identity +NM_001177381.2:c.473G>A NP_001170852.1:p.Cys158Tyr NC_000004.12:15003145:G:A p.(Cys158Tyr) NC_000004.12:15003145:G:A p.(Cys158Tyr) NC_000004.12:15003145:G:A Identity +NM_001014447.3:c.584G>C NP_001014447.2:p.Arg195Pro NC_000004.12:8604062:G:C p.(Arg195Pro) NC_000004.12:8604062:G:C p.(Arg195Pro) NC_000004.12:8604062:G:C Identity +NM_001184771.2:c.85A>G NP_001171700.2:p.Thr29Ala NC_000023.11:88753498:A:G p.(Thr29Ala) NC_000023.11:88753498:A:G p.(Thr29Ala) NC_000023.11:88753498:A:G Identity +NM_175710.2:c.1471C>T NP_783641.1:p.Leu491Phe NC_000001.11:207717519:C:T p.(Leu491Phe) NC_000001.11:207717519:C:T p.(Leu491Phe) NC_000001.11:207717519:C:T Identity +NM_000755.5:c.458T>C NP_000746.3:p.Ile153Thr NC_000009.12:129103018:A:G p.(Ile153Thr) NC_000009.12:129103018:A:G p.(Ile153Thr) NC_000009.12:129103018:A:G Identity +NM_001039775.4:c.644G>A NP_001034864.2:p.Arg215His NC_000001.11:26346013:C:T p.(Arg215His) NC_000001.11:26346013:C:T p.(Arg215His) NC_000001.11:26346013:C:T Identity +NM_001039775.4:c.4451G>A NP_001034864.2:p.Gly1484Asp NC_000001.11:26328736:C:T p.(Gly1484Asp) NC_000001.11:26328736:C:T p.(Gly1484Asp) NC_000001.11:26328736:C:T Identity +NM_001167749.3:c.2396A>T NP_001161221.1:p.Lys799Ile NC_000001.11:167845714:T:A p.(Lys799Ile) NC_000001.11:167845714:T:A p.(Lys799Ile) NC_000001.11:167845714:T:A Identity +NM_020825.4:c.1996G>C NP_065876.3:p.Ala666Pro NC_000016.10:1656752:G:C p.(Ala666Pro) NC_000016.10:1656752:G:C p.(Ala666Pro) NC_000016.10:1656752:G:C Identity +NM_000756.4:c.419C>G NP_000747.1:p.Ala140Gly NC_000008.11:66177058:G:C p.(Ala140Gly) NC_000008.11:66177058:G:C p.(Ala140Gly) NC_000008.11:66177058:G:C Identity +NM_001286606.2:c.622G>C NP_001273535.1:p.Glu208Gln NC_000011.10:830265:G:C p.(Glu208Gln) NC_000011.10:830265:G:C p.(Glu208Gln) NC_000011.10:830265:G:C Identity +NM_173689.7:c.1132G>A NP_775960.4:p.Ala378Thr NC_000009.12:123370184:G:A p.(Ala378Thr) NC_000009.12:123370184:G:A p.(Ala378Thr) NC_000009.12:123370184:G:A Identity +NM_001253775.2:c.49A>G NP_001240704.1:p.Lys17Glu NC_000007.14:138001656:T:C p.(Lys17Glu) NC_000007.14:138001656:T:C p.(Lys17Glu) NC_000007.14:138001656:T:C Identity +NM_001318246.2:c.404A>G NP_001305175.1:p.Asp135Gly NC_000007.14:137908426:T:C p.(Asp135Gly) NC_000007.14:137908426:T:C p.(Asp135Gly) NC_000007.14:137908426:T:C Identity +NM_001256299.3:c.124A>G NP_001243228.1:p.Ile42Val NC_000017.11:45830509:A:G p.(Ile42Val) NC_000017.11:45830509:A:G p.(Ile42Val) NC_000017.11:45830509:A:G Identity +NM_001142407.3:c.571G>A NP_001135879.1:p.Gly191Ser NC_000006.12:49695868:C:T p.(Gly191Ser) NC_000006.12:49695868:C:T p.(Gly191Ser) NC_000006.12:49695868:C:T Identity +NM_014675.5:c.4943A>G NP_055490.4:p.Glu1648Gly NC_000001.11:16968284:A:G p.(Glu1648Gly) NC_000001.11:16968284:A:G p.(Glu1648Gly) NC_000001.11:16968284:A:G Identity +NM_001371242.2:c.3040C>T NP_001358171.1:p.His1014Tyr NC_000006.12:106520247:C:T p.(His1014Tyr) NC_000006.12:106520247:C:T p.(His1014Tyr) NC_000006.12:106520247:C:T Identity +NM_001316.4:c.910A>G NP_001307.2:p.Thr304Ala NC_000020.11:49072426:A:G p.(Thr304Ala) NC_000020.11:49072426:A:G p.(Thr304Ala) NC_000020.11:49072426:A:G Identity +NM_000757.6:c.760C>T NP_000748.4:p.Pro254Ser NC_000001.11:109923380:C:T p.(Pro254Ser) NC_000001.11:109923380:C:T p.(Pro254Ser) NC_000001.11:109923380:C:T Identity +NM_000395.3:c.1499T>A NP_000386.1:p.Met500Lys NC_000022.11:36936582:T:A p.(Met500Lys) NC_000022.11:36936582:T:A p.(Met500Lys) NC_000022.11:36936582:T:A Identity +NM_033225.6:c.3709G>A NP_150094.5:p.Asp1237Asn NC_000008.11:3308425:C:T p.(Asp1237Asn) NC_000008.11:3308425:C:T p.(Asp1237Asn) NC_000008.11:3308425:C:T Identity +NM_001281956.2:c.6427G>C NP_001268885.1:p.Val2143Leu NC_000001.11:33605386:C:G p.(Val2143Leu) NC_000001.11:33605386:C:G p.(Val2143Leu) NC_000001.11:33605386:C:G Identity +NM_005208.5:c.172C>T NP_005199.2:p.Arg58Cys NC_000017.11:29250256:C:T p.(Arg58Cys) NC_000017.11:29250256:C:T p.(Arg58Cys) NC_000017.11:29250256:C:T Identity +NM_004077.3:c.1137G>C NP_004068.2:p.Gln379His NC_000012.12:56273679:C:G p.(Gln379His) NC_000012.12:56273679:C:G p.(Gln379His) NC_000012.12:56273679:C:G Identity +NM_033225.6:c.3821T>G NP_150094.5:p.Ile1274Arg NC_000008.11:3308313:A:C p.(Ile1274Arg) NC_000008.11:3308313:A:C p.(Ile1274Arg) NC_000008.11:3308313:A:C Identity +NM_033225.6:c.8035C>T NP_150094.5:p.His2679Tyr NC_000008.11:3000125:G:A p.(His2679Tyr) NC_000008.11:3000125:G:A p.(His2679Tyr) NC_000008.11:3000125:G:A Identity +NM_033225.6:c.6115C>G NP_150094.5:p.Pro2039Ala NC_000008.11:3142590:G:C p.(Pro2039Ala) NC_000008.11:3142590:G:C p.(Pro2039Ala) NC_000008.11:3142590:G:C Identity +NM_014675.5:c.2074G>A NP_055490.4:p.Ala692Thr NC_000001.11:16945543:G:A p.(Ala692Thr) NC_000001.11:16945543:G:A p.(Ala692Thr) NC_000001.11:16945543:G:A Identity +NM_014675.5:c.343A>G NP_055490.4:p.Ser115Gly NC_000001.11:16924470:A:G p.(Ser115Gly) NC_000001.11:16924470:A:G p.(Ser115Gly) NC_000001.11:16924470:A:G Identity +NM_001121.4:c.505C>A NP_001112.2:p.Gln169Lys NC_000010.11:110117359:C:A p.(Gln169Lys) NC_000010.11:110117359:C:A p.(Gln169Lys) NC_000010.11:110117359:C:A Identity +NM_001910.4:c.69G>C NP_001901.1:p.Arg23Ser NC_000001.11:206023056:C:G p.(Arg23Ser) NC_000001.11:206023056:C:G p.(Arg23Ser) NC_000001.11:206023056:C:G Identity +NM_001281956.2:c.4295A>G NP_001268885.1:p.Gln1432Arg NC_000001.11:33658097:T:C p.(Gln1432Arg) NC_000001.11:33658097:T:C p.(Gln1432Arg) NC_000001.11:33658097:T:C Identity +NM_001897.5:c.3682G>A NP_001888.2:p.Val1228Met NC_000015.10:75687382:C:T p.(Val1228Met) NC_000015.10:75687382:C:T p.(Val1228Met) NC_000015.10:75687382:C:T Identity +NM_001145718.3:c.694G>T NP_001139190.1:p.Ala232Ser NC_000023.11:120874976:C:A p.(Ala232Ser) NC_000023.11:120874976:C:A p.(Ala232Ser) NC_000023.11:120874976:C:A Identity +NM_001121.4:c.688A>C NP_001112.2:p.Ile230Leu NC_000010.11:110118706:A:C p.(Ile230Leu) NC_000010.11:110118706:A:C p.(Ile230Leu) NC_000010.11:110118706:A:C Identity +NM_001281956.2:c.2849A>G NP_001268885.1:p.Asn950Ser NC_000001.11:33724550:T:C p.(Asn950Ser) NC_000001.11:33724550:T:C p.(Asn950Ser) NC_000001.11:33724550:T:C Identity +NM_001370598.1:c.3763G>A NP_001357527.1:p.Asp1255Asn NC_000012.12:111347812:G:A p.(Asp1255Asn) NC_000012.12:111347812:G:A p.(Asp1255Asn) NC_000012.12:111347812:G:A Identity +NM_001142797.2:c.1001C>A NP_001136269.1:p.Ala334Asp NC_000023.11:71616611:G:T p.(Ala334Asp) NC_000023.11:71616611:G:T p.(Ala334Asp) NC_000023.11:71616611:G:T Identity +NM_001257971.2:c.576T>A NP_001244900.1:p.Asp192Glu NC_000009.12:87728763:T:A p.(Asp192Glu) NC_000009.12:87728763:T:A p.(Asp192Glu) NC_000009.12:87728763:T:A Identity +NM_020994.5:c.32C>G NP_066274.2:p.Ser11Trp NC_000023.11:154653483:G:C p.(Ser11Trp) NC_000023.11:154653483:G:C p.(Ser11Trp) NC_000023.11:154653483:G:C Identity +NM_001031681.3:c.70G>T NP_001026851.2:p.Val24Phe NC_000017.11:3647451:G:T p.(Val24Phe) NC_000017.11:3647451:G:T p.(Val24Phe) NC_000017.11:3647451:G:T Identity +NM_001083909.3:c.487G>A NP_001077378.1:p.Glu163Lys NC_000010.11:133127317:G:A p.(Glu163Lys) NC_000010.11:133127317:G:A p.(Glu163Lys) NC_000010.11:133127317:G:A Identity +NM_183374.3:c.277G>C NP_899230.2:p.Val93Leu NC_000010.11:93062081:G:C p.(Val93Leu) NC_000010.11:93062081:G:C p.(Val93Leu) NC_000010.11:93062081:G:C Identity +NM_000764.3:c.647C>G NP_000755.2:p.Thr216Arg NC_000019.10:40880090:G:C p.(Thr216Arg) NC_000019.10:40880090:G:C p.(Thr216Arg) NC_000019.10:40880090:G:C Identity +NM_001128932.2:c.1183G>A NP_001122404.1:p.Val395Ile NC_000019.10:15914827:C:T p.(Val395Ile) NC_000019.10:15914827:C:T p.(Val395Ile) NC_000019.10:15914827:C:T Identity +NM_001142797.2:c.779C>T NP_001136269.1:p.Thr260Met NC_000023.11:71616833:G:A p.(Thr260Met) NC_000023.11:71616833:G:A p.(Thr260Met) NC_000023.11:71616833:G:A Identity +NM_001254755.2:c.340C>A NP_001241684.1:p.Pro114Thr NC_000017.11:4156962:C:A p.(Pro114Thr) NC_000017.11:4156962:C:A p.(Pro114Thr) NC_000017.11:4156962:C:A Identity +NM_001335.4:c.532G>T NP_001326.3:p.Val178Leu NC_000011.10:65882519:G:T p.(Val178Leu) NC_000011.10:65882519:G:T p.(Val178Leu) NC_000011.10:65882519:G:T Identity +NM_001207063.2:c.220T>C NP_001193992.1:p.Tyr74His NC_000021.9:17551757:T:C p.(Tyr74His) NC_000021.9:17551757:T:C p.(Tyr74His) NC_000021.9:17551757:T:C Identity +NM_000634.3:c.289G>A NP_000625.1:p.Ala97Thr NC_000002.12:218164922:C:T p.(Ala97Thr) NC_000002.12:218164922:C:T p.(Ala97Thr) NC_000002.12:218164922:C:T Identity +NM_145290.4:c.1133G>T NP_660333.2:p.Arg378Leu NC_000004.12:22436593:C:A p.(Arg378Leu) NC_000004.12:22436593:C:A p.(Arg378Leu) NC_000004.12:22436593:C:A Identity +NM_001270520.2:c.1001T>A NP_001257449.1:p.Phe334Tyr NC_000014.9:59325674:T:A p.(Phe334Tyr) NC_000014.9:59325674:T:A p.(Phe334Tyr) NC_000014.9:59325674:T:A Identity +NM_152654.3:c.217G>T NP_689867.1:p.Gly73Trp NC_000019.10:12969876:G:T p.(Gly73Trp) NC_000019.10:12969876:G:T p.(Gly73Trp) NC_000019.10:12969876:G:T Identity +NM_001199849.1:c.716C>G NP_001186778.1:p.Ala239Gly NC_000001.11:155729238:C:G p.(Ala239Gly) NC_000001.11:155729238:C:G p.(Ala239Gly) NC_000001.11:155729238:C:G Identity +NM_001352033.2:c.997A>G NP_001338962.1:p.Met333Val NC_000019.10:1432641:A:G p.(Met333Val) NC_000019.10:1432641:A:G p.(Met333Val) NC_000019.10:1432641:A:G Identity +NM_000785.4:c.463G>T NP_000776.1:p.Ala155Ser NC_000012.12:57765422:C:A p.(Ala155Ser) NC_000012.12:57765422:C:A p.(Ala155Ser) NC_000012.12:57765422:C:A Identity +NM_000106.6:c.958C>T NP_000097.3:p.Leu320Phe NC_000022.11:42127868:G:A p.(Leu320Phe) NC_000022.11:42127868:G:A p.(Leu320Phe) NC_000022.11:42127868:G:A Identity +NM_001010969.4:c.49G>A NP_001010969.2:p.Gly17Arg NC_000001.11:47137533:G:A p.(Gly17Arg) NC_000001.11:47137533:G:A p.(Gly17Arg) NC_000001.11:47137533:G:A Identity +NM_000778.4:c.1230G>T NP_000769.2:p.Met410Ile NC_000001.11:46933039:C:A p.(Met410Ile) NC_000001.11:46933039:C:A p.(Met410Ile) NC_000001.11:46933039:C:A Identity +NM_030579.3:c.110C>G NP_085056.2:p.Ser37Cys NC_000016.10:69424792:C:G p.(Ser37Cys) NC_000016.10:69424792:C:G p.(Ser37Cys) NC_000016.10:69424792:C:G Identity +NM_001391985.1:c.4136C>T NP_001378914.1:p.Thr1379Met NC_000008.11:142542378:C:T p.(Thr1379Met) NC_000008.11:142542378:C:T p.(Thr1379Met) NC_000008.11:142542378:C:T Identity +NM_001037333.3:c.2201G>T NP_001032410.1:p.Gly734Val NC_000005.10:157330785:G:T p.(Gly734Val) NC_000005.10:157330785:G:T p.(Gly734Val) NC_000005.10:157330785:G:T Identity +NM_001278738.2:c.832G>A NP_001265667.1:p.Ala278Thr NC_000006.12:46625456:C:T p.(Ala278Thr) NC_000006.12:46625456:C:T p.(Ala278Thr) NC_000006.12:46625456:C:T Identity +NM_001393637.1:c.1382C>A NP_001380566.1:p.Ala461Asp NC_000019.10:13959839:C:A p.(Ala461Asp) NC_000019.10:13959839:C:A p.(Ala461Asp) NC_000019.10:13959839:C:A Identity +NM_001395010.1:c.2362C>T NP_001381939.1:p.Arg788Trp NC_000009.12:121772889:C:T p.(Arg788Trp) NC_000009.12:121772889:C:T p.(Arg788Trp) NC_000009.12:121772889:C:T Identity +NM_001286350.2:c.235G>T NP_001273279.1:p.Val79Leu NC_000006.12:168309011:C:A p.(Val79Leu) NC_000006.12:168309011:C:A p.(Val79Leu) NC_000006.12:168309011:C:A Identity +NM_006133.3:c.2251C>T NP_006124.1:p.Arg751Cys NC_000011.10:61743610:C:T p.(Arg751Cys) NC_000011.10:61743610:C:T p.(Arg751Cys) NC_000011.10:61743610:C:T Identity +NM_001129889.3:c.1026C>A NP_001123361.1:p.Asn342Lys NC_000013.11:94462026:G:T p.(Asn342Lys) NC_000013.11:94462026:G:T p.(Asn342Lys) NC_000013.11:94462026:G:T Identity +NM_001261412.2:c.654C>G NP_001248341.1:p.Asp218Glu NC_000012.12:57533973:G:C p.(Asp218Glu) NC_000012.12:57533973:G:C p.(Asp218Glu) NC_000012.12:57533973:G:C Identity +NM_001377321.1:c.1210A>C NP_001364250.1:p.Thr404Pro NC_000017.11:69197087:T:G p.(Thr404Pro) NC_000017.11:69197087:T:G p.(Thr404Pro) NC_000017.11:69197087:T:G Identity +NM_001014796.3:c.2005C>T NP_001014796.1:p.His669Tyr NC_000001.11:162775799:C:T p.(His669Tyr) NC_000001.11:162775799:C:T p.(His669Tyr) NC_000001.11:162775799:C:T Identity +NM_001322340.2:c.1145T>C NP_001309269.2:p.Val382Ala NC_000009.12:132646880:A:G p.(Val382Ala) NC_000009.12:132646880:A:G p.(Val382Ala) NC_000009.12:132646880:A:G Identity +NM_001322341.2:c.1840T>C NP_001309270.1:p.Trp614Arg NC_000009.12:132618341:A:G p.(Trp614Arg) NC_000009.12:132618341:A:G p.(Trp614Arg) NC_000009.12:132618341:A:G Identity +NM_015726.4:c.674G>A NP_056541.2:p.Arg225Gln NC_000001.11:160239745:C:T p.(Arg225Gln) NC_000001.11:160239745:C:T p.(Arg225Gln) NC_000001.11:160239745:C:T Identity +NM_173475.4:c.460A>G NP_775746.1:p.Ile154Val NC_000016.10:20860340:T:C p.(Ile154Val) NC_000016.10:20860340:T:C p.(Ile154Val) NC_000016.10:20860340:T:C Identity +NM_016216.4:c.464A>C NP_057300.2:p.Asn155Thr NC_000003.12:138170131:T:G p.(Asn155Thr) NC_000003.12:138170131:T:G p.(Asn155Thr) NC_000003.12:138170131:T:G Identity +NM_024345.5:c.295G>C NP_077321.3:p.Gly99Arg NC_000009.12:37801160:G:C p.(Gly99Arg) NC_000009.12:37801160:G:C p.(Gly99Arg) NC_000009.12:37801160:G:C Identity +NM_001033855.3:c.727C>T NP_001029027.1:p.His243Tyr NC_000010.11:14932906:G:A p.(His243Tyr) NC_000010.11:14932906:G:A p.(His243Tyr) NC_000010.11:14932906:G:A Identity +NM_001350236.2:c.965G>T NP_001337165.1:p.Arg322Leu NC_000011.10:126345542:G:T p.(Arg322Leu) NC_000011.10:126345542:G:T p.(Arg322Leu) NC_000011.10:126345542:G:T Identity +NM_006571.4:c.380C>T NP_006562.1:p.Ala127Val NC_000008.11:30180535:C:T p.(Ala127Val) NC_000008.11:30180535:C:T p.(Ala127Val) NC_000008.11:30180535:C:T Identity +NM_001923.5:c.1544C>T NP_001914.3:p.Ala515Val NC_000011.10:61314352:G:A p.(Ala515Val) NC_000011.10:61314352:G:A p.(Ala515Val) NC_000011.10:61314352:G:A Identity +NM_004398.4:c.2210A>C NP_004389.2:p.Lys737Thr NC_000011.10:108841438:A:C p.(Lys737Thr) NC_000011.10:108841438:A:C p.(Lys737Thr) NC_000011.10:108841438:A:C Identity +NM_025048.4:c.159G>C NP_079324.2:p.Gln53His NC_000006.12:47025971:C:G p.(Gln53His) NC_000006.12:47025971:C:G p.(Gln53His) NC_000006.12:47025971:C:G Identity +NM_016355.4:c.20A>G NP_057439.2:p.His7Arg NC_000012.12:12813386:A:G p.(His7Arg) NC_000012.12:12813386:A:G p.(His7Arg) NC_000012.12:12813386:A:G Identity +NM_001297746.2:c.270G>T NP_001284675.1:p.Glu90Asp NC_000001.11:244705572:G:T p.(Glu90Asp) NC_000001.11:244705572:G:T p.(Glu90Asp) NC_000001.11:244705572:G:T Identity +NM_001347.4:c.1706T>C NP_001338.2:p.Leu569Pro NC_000004.12:965203:A:G p.(Leu569Pro) NC_000004.12:965203:A:G p.(Leu569Pro) NC_000004.12:965203:A:G Identity +NM_024308.4:c.379A>G NP_077284.2:p.Ile127Val NC_000017.11:36598183:A:G p.(Ile127Val) NC_000017.11:36598183:A:G p.(Ile127Val) NC_000017.11:36598183:A:G Identity +NM_001111322.2:c.910G>A NP_001104792.1:p.Asp304Asn NC_000012.12:113174900:C:T p.(Asp304Asn) NC_000012.12:113174900:C:T p.(Asp304Asn) NC_000012.12:113174900:C:T Identity +NM_001320595.2:c.1348A>G NP_001307524.1:p.Ile450Val NC_000017.11:64500641:T:C p.(Ile450Val) NC_000017.11:64500641:T:C p.(Ile450Val) NC_000017.11:64500641:T:C Identity +NM_001193369.2:c.2872G>A NP_001180298.1:p.Val958Ile NC_000020.11:62893894:C:T p.(Val958Ile) NC_000020.11:62893894:C:T p.(Val958Ile) NC_000020.11:62893894:C:T Identity +NM_001322340.2:c.806C>T NP_001309269.2:p.Thr269Ile NC_000009.12:132648485:G:A p.(Thr269Ile) NC_000009.12:132648485:G:A p.(Thr269Ile) NC_000009.12:132648485:G:A Identity +NM_001145168.1:c.128G>A NP_001138640.1:p.Arg43Gln NC_000002.12:26318921:C:T p.(Arg43Gln) NC_000002.12:26318921:C:T p.(Arg43Gln) NC_000002.12:26318921:C:T Identity +NM_001001794.4:c.1504C>T NP_001001794.3:p.His502Tyr NC_000022.11:50312578:G:A p.(His502Tyr) NC_000022.11:50312578:G:A p.(His502Tyr) NC_000022.11:50312578:G:A Identity +NM_001204504.3:c.2009A>T NP_001191433.1:p.Asp670Val NC_000013.11:42190498:A:T p.(Asp670Val) NC_000013.11:42190498:A:T p.(Asp670Val) NC_000013.11:42190498:A:T Identity +NM_001270614.2:c.662G>A NP_001257543.1:p.Arg221Gln NC_000019.10:42199756:C:T p.(Arg221Gln) NC_000019.10:42199756:C:T p.(Arg221Gln) NC_000019.10:42199756:C:T Identity +NM_001352964.2:c.1810G>A NP_001339893.1:p.Glu604Lys NC_000009.12:123383863:C:T p.(Glu604Lys) NC_000009.12:123383863:C:T p.(Glu604Lys) NC_000009.12:123383863:C:T Identity +NM_001098518.2:c.1804T>C NP_001091988.1:p.Phe602Leu NC_000006.12:46866954:A:G p.(Phe602Leu) NC_000006.12:46866954:A:G p.(Phe602Leu) NC_000006.12:46866954:A:G Identity +NM_001308339.2:c.884G>A NP_001295268.1:p.Gly295Glu NC_000012.12:31479713:C:T p.(Gly295Glu) NC_000012.12:31479713:C:T p.(Gly295Glu) NC_000012.12:31479713:C:T Identity +NM_016941.4:c.1258G>A NP_058637.1:p.Gly420Ser NC_000019.10:39507202:G:A p.(Gly420Ser) NC_000019.10:39507202:G:A p.(Gly420Ser) NC_000019.10:39507202:G:A Identity +NM_001320644.2:c.5429A>G NP_001307573.1:p.Asn1810Ser NC_000010.11:122629986:A:G p.(Asn1810Ser) NC_000010.11:122629986:A:G p.(Asn1810Ser) NC_000010.11:122629986:A:G Identity +NM_001256476.2:c.583T>G NP_001243405.1:p.Phe195Val NC_000002.12:68138791:A:C p.(Phe195Val) NC_000002.12:68138791:A:C p.(Phe195Val) NC_000002.12:68138791:A:C Identity +NM_001256714.1:c.376C>T NP_001243643.1:p.Arg126Trp NC_000019.10:55165913:G:A p.(Arg126Trp) NC_000019.10:55165913:G:A p.(Arg126Trp) NC_000019.10:55165913:G:A Identity +NM_001012967.3:c.437C>T NP_001012985.2:p.Ser146Leu NC_000004.12:168461867:G:A p.(Ser146Leu) NC_000004.12:168461867:G:A p.(Ser146Leu) NC_000004.12:168461867:G:A Identity +NM_001037730.1:c.205A>G NP_001032819.1:p.Lys69Glu NC_000020.11:31259569:A:G p.(Lys69Glu) NC_000020.11:31259569:A:G p.(Lys69Glu) NC_000020.11:31259569:A:G Identity +NM_001033018.2:c.25C>G NP_001028190.2:p.Leu9Val NC_000008.11:11974574:G:C p.(Leu9Val) NC_000008.11:11974574:G:C p.(Leu9Val) NC_000008.11:11974574:G:C Identity +NM_001377321.1:c.3049G>T NP_001364250.1:p.Val1017Leu NC_000017.11:69174393:C:A p.(Val1017Leu) NC_000017.11:69174393:C:A p.(Val1017Leu) NC_000017.11:69174393:C:A Identity +NM_001001794.4:c.1640G>A NP_001001794.3:p.Arg547Gln NC_000022.11:50312256:C:T p.(Arg547Gln) NC_000022.11:50312256:C:T p.(Arg547Gln) NC_000022.11:50312256:C:T Identity +NM_001345.5:c.1504G>T NP_001336.2:p.Val502Leu NC_000012.12:55951699:G:T p.(Val502Leu) NC_000012.12:55951699:G:T p.(Val502Leu) NC_000012.12:55951699:G:T Identity +NM_001193369.2:c.514C>T NP_001180298.1:p.Arg172Trp NC_000020.11:62911098:G:A p.(Arg172Trp) NC_000020.11:62911098:G:A p.(Arg172Trp) NC_000020.11:62911098:G:A Identity +NM_001193369.2:c.3505C>T NP_001180298.1:p.Pro1169Ser NC_000020.11:62890995:G:A p.(Pro1169Ser) NC_000020.11:62890995:G:A p.(Pro1169Ser) NC_000020.11:62890995:G:A Identity +NM_001277115.2:c.10567G>T NP_001264044.1:p.Gly3523Trp NC_000007.14:21816700:G:T p.(Gly3523Trp) NC_000007.14:21816700:G:T p.(Gly3523Trp) NC_000007.14:21816700:G:T Identity +NM_001367479.1:c.9656C>T NP_001354408.1:p.Ala3219Val NC_000001.11:225324764:C:T p.(Ala3219Val) NC_000001.11:225324764:C:T p.(Ala3219Val) NC_000001.11:225324764:C:T Identity +NM_173628.4:c.2516T>A NP_775899.3:p.Ile839Asn NC_000017.11:78543872:A:T p.(Ile839Asn) NC_000017.11:78543872:A:T p.(Ile839Asn) NC_000017.11:78543872:A:T Identity +NM_016941.4:c.184G>T NP_058637.1:p.Val62Phe NC_000019.10:39499305:G:T p.(Val62Phe) NC_000019.10:39499305:G:T p.(Val62Phe) NC_000019.10:39499305:G:T Identity +NM_004943.2:c.1345G>T NP_004934.1:p.Val449Leu NC_000019.10:45786150:C:A p.(Val449Leu) NC_000019.10:45786150:C:A p.(Val449Leu) NC_000019.10:45786150:C:A Identity +NM_001173533.2:c.1505G>A NP_001167004.1:p.Arg502His NC_000022.11:19038889:C:T p.(Arg502His) NC_000022.11:19038889:C:T p.(Arg502His) NC_000022.11:19038889:C:T Identity +NM_001079858.3:c.1200A>C NP_001073327.1:p.Glu400Asp NC_000023.11:19010677:T:G p.(Glu400Asp) NC_000023.11:19010677:T:G p.(Glu400Asp) NC_000023.11:19010677:T:G Identity +NM_001330990.2:c.3245G>A NP_001317919.1:p.Arg1082His NC_000003.12:47849766:G:A p.(Arg1082His) NC_000003.12:47849766:G:A p.(Arg1082His) NC_000003.12:47849766:G:A Identity +NM_001032394.3:c.2000A>G NP_001027566.2:p.Asn667Ser NC_000006.12:142403929:A:G p.(Asn667Ser) NC_000006.12:142403929:A:G p.(Asn667Ser) NC_000006.12:142403929:A:G Identity +NM_001372106.1:c.5527C>T NP_001359035.1:p.Arg1843Cys NC_000012.12:123845765:C:T p.(Arg1843Cys) NC_000012.12:123845765:C:T p.(Arg1843Cys) NC_000012.12:123845765:C:T Identity +NM_001367479.1:c.7154C>T NP_001354408.1:p.Ser2385Leu NC_000001.11:225259249:C:T p.(Ser2385Leu) NC_000001.11:225259249:C:T p.(Ser2385Leu) NC_000001.11:225259249:C:T Identity +NM_001372.4:c.4252G>A NP_001363.2:p.Asp1418Asn NC_000017.11:11690073:G:A p.(Asp1418Asn) NC_000017.11:11690073:G:A p.(Asp1418Asn) NC_000017.11:11690073:G:A Identity +NM_001172810.3:c.1082C>T NP_001166281.1:p.Pro361Leu NC_000017.11:74305312:C:T p.(Pro361Leu) NC_000017.11:74305312:C:T p.(Pro361Leu) NC_000017.11:74305312:C:T Identity +NM_001135005.3:c.70C>T NP_001128477.1:p.Arg24Trp NC_000009.12:34990699:C:T p.(Arg24Trp) NC_000009.12:34990699:C:T p.(Arg24Trp) NC_000009.12:34990699:C:T Identity +NM_001271581.3:c.1213G>A NP_001258510.1:p.Val405Met NC_000002.12:182751701:G:A p.(Val405Met) NC_000002.12:182751701:G:A p.(Val405Met) NC_000002.12:182751701:G:A Identity +NM_139072.4:c.1111C>A NP_620711.3:p.Gln371Lys NC_000002.12:229512818:G:T p.(Gln371Lys) NC_000002.12:229512818:G:T p.(Gln371Lys) NC_000002.12:229512818:G:T Identity +NM_001143688.3:c.1844A>C NP_001137160.1:p.Glu615Ala NC_000015.10:66326006:A:C p.(Glu615Ala) NC_000015.10:66326006:A:C p.(Glu615Ala) NC_000015.10:66326006:A:C Identity +NM_004747.4:c.3148G>A NP_004738.3:p.Ala1050Thr NC_000010.11:77821335:C:T p.(Ala1050Thr) NC_000010.11:77821335:C:T p.(Ala1050Thr) NC_000010.11:77821335:C:T Identity +NM_153834.4:c.2267T>C NP_722576.3:p.Leu756Pro NC_000023.11:136345972:T:C p.(Leu756Pro) NC_000023.11:136345972:T:C p.(Leu756Pro) NC_000023.11:136345972:T:C Identity +NM_001008701.3:c.961G>A NP_001008701.1:p.Val321Met NC_000019.10:14162854:C:T p.(Val321Met) NC_000019.10:14162854:C:T p.(Val321Met) NC_000019.10:14162854:C:T Identity +NM_015657.4:c.4780C>T NP_056472.2:p.Arg1594Cys NC_000002.12:214968763:G:A p.(Arg1594Cys) NC_000002.12:214968763:G:A p.(Arg1594Cys) NC_000002.12:214968763:G:A Identity +NM_020877.5:c.2191C>T NP_065928.2:p.Arg731Cys NC_000017.11:7758633:C:T p.(Arg731Cys) NC_000017.11:7758633:C:T p.(Arg731Cys) NC_000017.11:7758633:C:T Identity +NM_020877.5:c.5017C>T NP_065928.2:p.Arg1673Trp NC_000017.11:7776847:C:T p.(Arg1673Trp) NC_000017.11:7776847:C:T p.(Arg1673Trp) NC_000017.11:7776847:C:T Identity +NM_001347886.2:c.6712G>A NP_001334815.1:p.Gly2238Arg NC_000016.10:20987724:C:T p.(Gly2238Arg) NC_000016.10:20987724:C:T p.(Gly2238Arg) NC_000016.10:20987724:C:T Identity +NM_001370.2:c.1008G>T NP_001361.1:p.Lys336Asn NC_000002.12:84547344:G:T p.(Lys336Asn) NC_000002.12:84547344:G:T p.(Lys336Asn) NC_000002.12:84547344:G:T Identity +NM_018897.3:c.7492A>G NP_061720.2:p.Ile2498Val NC_000002.12:195864162:T:C p.(Ile2498Val) NC_000002.12:195864162:T:C p.(Ile2498Val) NC_000002.12:195864162:T:C Identity +NM_000669.5:c.353G>C NP_000660.1:p.Gly118Ala NC_000004.12:99345075:C:G p.(Gly118Ala) NC_000004.12:99345075:C:G p.(Gly118Ala) NC_000004.12:99345075:C:G Identity +NM_001290223.2:c.1651G>A NP_001277152.2:p.Ala551Thr NC_000010.11:127031675:G:A p.(Ala551Thr) NC_000010.11:127031675:G:A p.(Ala551Thr) NC_000010.11:127031675:G:A Identity +NM_001363540.2:c.5738G>T NP_001350469.1:p.Ser1913Ile NC_000007.14:111728463:C:A p.(Ser1913Ile) NC_000007.14:111728463:C:A p.(Ser1913Ile) NC_000007.14:111728463:C:A Identity +NM_014908.4:c.132G>A NP_055723.1:p.Trp44Ter NC_000009.12:128947171:C:T p.(Trp44Ter) NC_000009.12:128947171:C:T p.(Trp44Ter) NC_000009.12:128947171:C:T Identity +NM_001135155.3:c.464T>A NP_001128627.2:p.Val155Glu NC_000019.10:38218624:A:T p.(Val155Glu) NC_000019.10:38218624:A:T p.(Val155Glu) NC_000019.10:38218624:A:T Identity +NM_001289162.2:c.535C>T NP_001276091.1:p.Leu179Phe NC_000016.10:57701965:C:T p.(Leu179Phe) NC_000016.10:57701965:C:T p.(Leu179Phe) NC_000016.10:57701965:C:T Identity +NM_014208.3:c.3226A>G NP_055023.2:p.Ser1076Gly NC_000004.12:87615887:A:G p.(Ser1076Gly) NC_000004.12:87615887:A:G p.(Ser1076Gly) NC_000004.12:87615887:A:G Identity +NM_014208.3:c.1918_1921del NP_055023.2:p.Ser640fs NC_000004.12:87614577:AGTCAG:AG p.(Ser640ThrfsTer673) NC_000004.12:87614577:AGTCAG:AG p.(Ser640ThrfsTer673) NC_000004.12:87614579:TCAG: Analogous +NM_138287.3:c.2129C>T NP_612144.1:p.Thr710Ile NC_000003.12:122570647:C:T p.(Thr710Ile) NC_000003.12:122570647:C:T p.(Thr710Ile) NC_000003.12:122570647:C:T Identity +NM_015177.2:c.113C>T NP_055992.1:p.Pro38Leu NC_000011.10:59172707:C:T p.(Pro38Leu) NC_000011.10:59172707:C:T p.(Pro38Leu) NC_000011.10:59172707:C:T Identity +NM_001003892.3:c.554C>T NP_001003892.1:p.Pro185Leu NC_000010.11:75037944:G:A p.(Pro185Leu) NC_000010.11:75037944:G:A p.(Pro185Leu) NC_000010.11:75037944:G:A Identity +NM_203394.3:c.1211A>G NP_976328.2:p.Lys404Arg NC_000012.12:77033954:T:C p.(Lys404Arg) NC_000012.12:77033954:T:C p.(Lys404Arg) NC_000012.12:77033954:T:C Identity +NM_006683.5:c.350G>A NP_006674.2:p.Ser117Asn NC_000014.9:20747929:G:A p.(Ser117Asn) NC_000014.9:20747929:G:A p.(Ser117Asn) NC_000014.9:20747929:G:A Identity +NM_001377260.1:c.884G>A NP_001364189.1:p.Arg295Gln NC_000001.11:231421004:C:T p.(Arg295Gln) NC_000001.11:231421004:C:T p.(Arg295Gln) NC_000001.11:231421004:C:T Identity +NM_053046.4:c.763G>T NP_444274.1:p.Ala255Ser NC_000019.10:40801334:G:T p.(Ala255Ser) NC_000019.10:40801334:G:T p.(Ala255Ser) NC_000019.10:40801334:G:T Identity +NM_001099409.3:c.2528A>G NP_001092879.1:p.Glu843Gly NC_000011.10:65583199:A:G p.(Glu843Gly) NC_000011.10:65583199:A:G p.(Glu843Gly) NC_000011.10:65583199:A:G Identity +NM_001317099.2:c.545C>T NP_001304028.1:p.Ser182Phe NC_000001.11:78013383:C:T p.(Ser182Phe) NC_000001.11:78013383:C:T p.(Ser182Phe) NC_000001.11:78013383:C:T Identity +NM_001044369.3:c.863G>A NP_001037834.2:p.Arg288Gln NC_000018.10:74446618:C:T p.(Arg288Gln) NC_000018.10:74446618:C:T p.(Arg288Gln) NC_000018.10:74446618:C:T Identity +NM_001012957.2:c.941G>T NP_001012975.1:p.Gly314Val NC_000001.11:231694698:G:T p.(Gly314Val) NC_000001.11:231694698:G:T p.(Gly314Val) NC_000001.11:231694698:G:T Identity +NM_033510.3:c.1810T>G NP_277045.1:p.Phe604Val NC_000015.10:40367921:T:G p.(Phe604Val) NC_000015.10:40367921:T:G p.(Phe604Val) NC_000015.10:40367921:T:G Identity +NM_001146015.2:c.1745C>T NP_001139487.1:p.Ala582Val NC_000014.9:55158649:G:A p.(Ala582Val) NC_000014.9:55158649:G:A p.(Ala582Val) NC_000014.9:55158649:G:A Identity +NM_001190458.2:c.785G>C NP_001177387.1:p.Arg262Thr NC_000009.12:328115:G:C p.(Arg262Thr) NC_000009.12:328115:G:C p.(Arg262Thr) NC_000009.12:328115:G:C Identity +NM_001414.4:c.457A>C NP_001405.1:p.Thr153Pro NC_000012.12:123627068:T:G p.(Thr153Pro) NC_000012.12:123627068:T:G p.(Thr153Pro) NC_000012.12:123627068:T:G Identity +NM_001037283.2:c.98G>C NP_001032360.1:p.Gly33Ala NC_000007.14:2355018:G:C p.(Gly33Ala) NC_000007.14:2355018:G:C p.(Gly33Ala) NC_000007.14:2355018:G:C Identity +NM_003753.4:c.265C>G NP_003744.1:p.Gln89Glu NC_000022.11:36524636:G:C p.(Gln89Glu) NC_000022.11:36524636:G:C p.(Gln89Glu) NC_000022.11:36524636:G:C Identity +NM_001099408.2:c.16G>T NP_001092878.1:p.Val6Leu NC_000005.10:176643081:G:T p.(Val6Leu) NC_000005.10:176643081:G:T p.(Val6Leu) NC_000005.10:176643081:G:T Identity +NM_001037131.3:c.1868A>T NP_001032208.1:p.His623Leu NC_000002.12:236040817:A:T p.(His623Leu) NC_000002.12:236040817:A:T p.(His623Leu) NC_000002.12:236040817:A:T Identity +NM_001322246.3:c.2447C>G NP_001309175.1:p.Pro816Arg NC_000004.12:61948121:C:G p.(Pro816Arg) NC_000004.12:61948121:C:G p.(Pro816Arg) NC_000004.12:61948121:C:G Identity +NM_022160.3:c.281C>T NP_071443.2:p.Thr94Met NC_000009.12:22447345:C:T p.(Thr94Met) NC_000009.12:22447345:C:T p.(Thr94Met) NC_000009.12:22447345:C:T Identity +NM_001040283.3:c.622T>G NP_001035373.1:p.Phe208Val NC_000019.10:41848968:T:G p.(Phe208Val) NC_000019.10:41848968:T:G p.(Phe208Val) NC_000019.10:41848968:T:G Identity +NM_001169154.2:c.233C>G NP_001162625.1:p.Pro78Arg NC_000023.11:107218869:C:G p.(Pro78Arg) NC_000023.11:107218869:C:G p.(Pro78Arg) NC_000023.11:107218869:C:G Identity +NM_013391.3:c.710G>C NP_037523.2:p.Gly237Ala NC_000005.10:79051321:C:G p.(Gly237Ala) NC_000005.10:79051321:C:G p.(Gly237Ala) NC_000005.10:79051321:C:G Identity +NM_032110.3:c.631C>T NP_115486.1:p.Pro211Ser NC_000001.11:50419662:G:A p.(Pro211Ser) NC_000001.11:50419662:G:A p.(Pro211Ser) NC_000001.11:50419662:G:A Identity +NM_001320714.2:c.3569A>C NP_001307643.1:p.Glu1190Ala NC_000021.9:36245548:A:C p.(Glu1190Ala) NC_000021.9:36245548:A:C p.(Glu1190Ala) NC_000021.9:36245548:A:C Identity +NM_001320714.2:c.6347C>T NP_001307643.1:p.Ser2116Leu NC_000021.9:36288804:C:T p.(Ser2116Leu) NC_000021.9:36288804:C:T p.(Ser2116Leu) NC_000021.9:36288804:C:T Identity +NM_001366028.2:c.1723A>G NP_001352957.1:p.Thr575Ala NC_000003.12:57472598:T:C p.(Thr575Ala) NC_000003.12:57472598:T:C p.(Thr575Ala) NC_000003.12:57472598:T:C Identity +NM_001366028.2:c.2254C>T NP_001352957.1:p.Arg752Trp NC_000003.12:57468830:G:A p.(Arg752Trp) NC_000003.12:57468830:G:A p.(Arg752Trp) NC_000003.12:57468830:G:A Identity +NM_001114123.3:c.761A>C NP_001107595.1:p.Lys254Thr NC_000023.11:47638075:T:G p.(Lys254Thr) NC_000023.11:47638075:T:G p.(Lys254Thr) NC_000023.11:47638075:T:G Identity +NM_001267895.2:c.1315G>A NP_001254824.1:p.Glu439Lys NC_000022.11:29258932:G:A p.(Glu439Lys) NC_000022.11:29258932:G:A p.(Glu439Lys) NC_000022.11:29258932:G:A Identity +NM_001372106.1:c.10091G>A NP_001359035.1:p.Gly3364Asp NC_000012.12:123910628:G:A p.(Gly3364Asp) NC_000012.12:123910628:G:A p.(Gly3364Asp) NC_000012.12:123910628:G:A Identity +NM_001366028.2:c.1862G>A NP_001352957.1:p.Arg621His NC_000003.12:57471520:C:T p.(Arg621His) NC_000003.12:57471520:C:T p.(Arg621His) NC_000003.12:57471520:C:T Identity +NM_173628.4:c.9496G>A NP_775899.3:p.Ala3166Thr NC_000017.11:78459940:C:T p.(Ala3166Thr) NC_000017.11:78459940:C:T p.(Ala3166Thr) NC_000017.11:78459940:C:T Identity +NM_020877.5:c.2920A>G NP_065928.2:p.Ile974Val NC_000017.11:7760873:A:G p.(Ile974Val) NC_000017.11:7760873:A:G p.(Ile974Val) NC_000017.11:7760873:A:G Identity +NM_001347886.2:c.4908A>T NP_001334815.1:p.Lys1636Asn NC_000016.10:21036752:T:A p.(Lys1636Asn) NC_000016.10:21036752:T:A p.(Lys1636Asn) NC_000016.10:21036752:T:A Identity +NM_001347886.2:c.12061T>G NP_001334815.1:p.Cys4021Gly NC_000016.10:20933305:A:C p.(Cys4021Gly) NC_000016.10:20933305:A:C p.(Cys4021Gly) NC_000016.10:20933305:A:C Identity +NM_018897.3:c.3776G>A NP_061720.2:p.Ser1259Asn NC_000002.12:195923643:C:T p.(Ser1259Asn) NC_000002.12:195923643:C:T p.(Ser1259Asn) NC_000002.12:195923643:C:T Identity +NM_001253723.2:c.715A>G NP_001240652.1:p.Thr239Ala NC_000002.12:26933257:A:G p.(Thr239Ala) NC_000002.12:26933257:A:G p.(Thr239Ala) NC_000002.12:26933257:A:G Identity +NM_000678.4:c.241G>C NP_000669.1:p.Val81Leu NC_000020.11:4248716:C:G p.(Val81Leu) NC_000020.11:4248716:C:G p.(Val81Leu) NC_000020.11:4248716:C:G Identity +NM_001941.5:c.1022G>C NP_001932.2:p.Cys341Ser NC_000018.10:31018720:C:G p.(Cys341Ser) NC_000018.10:31018720:C:G p.(Cys341Ser) NC_000018.10:31018720:C:G Identity +NM_001946.4:c.843A>C NP_001937.2:p.Glu281Asp NC_000012.12:89349556:T:G p.(Glu281Asp) NC_000012.12:89349556:T:G p.(Glu281Asp) NC_000012.12:89349556:T:G Identity +NM_004422.3:c.1396G>A NP_004413.1:p.Val466Met NC_000017.11:7227236:C:T p.(Val466Met) NC_000017.11:7227236:C:T p.(Val466Met) NC_000017.11:7227236:C:T Identity +NM_001114176.2:c.1012A>G NP_001107648.1:p.Ser338Gly NC_000012.12:19493823:A:G p.(Ser338Gly) NC_000012.12:19493823:A:G p.(Ser338Gly) NC_000012.12:19493823:A:G Identity +NM_014648.4:c.317G>A NP_055463.1:p.Arg106His NC_000003.12:108616598:G:A p.(Arg106His) NC_000003.12:108616598:G:A p.(Arg106His) NC_000003.12:108616598:G:A Identity +NM_001288776.2:c.376T>C NP_001275705.2:p.Ser126Pro NC_000016.10:2229635:T:C p.(Ser126Pro) NC_000016.10:2229635:T:C p.(Ser126Pro) NC_000016.10:2229635:T:C Identity +NM_001197295.2:c.1085T>C NP_001184224.1:p.Ile362Thr NC_000009.12:92512029:A:G p.(Ile362Thr) NC_000009.12:92512029:A:G p.(Ile362Thr) NC_000009.12:92512029:A:G Identity +NM_001202438.2:c.3540A>C NP_001189367.1:p.Lys1180Asn NC_000010.11:125753839:A:C p.(Lys1180Asn) NC_000010.11:125753839:A:C p.(Lys1180Asn) NC_000010.11:125753839:A:C Identity +NM_001166415.2:c.1771C>A NP_001159887.1:p.Pro591Thr NC_000003.12:185192338:G:T p.(Pro591Thr) NC_000003.12:185192338:G:T p.(Pro591Thr) NC_000003.12:185192338:G:T Identity +NM_001042559.3:c.1144G>A NP_001036024.3:p.Gly382Arg NC_000011.10:10802203:C:T p.(Gly382Arg) NC_000011.10:10802203:C:T p.(Gly382Arg) NC_000011.10:10802203:C:T Identity +NM_001370.2:c.4355A>G NP_001361.1:p.Asp1452Gly NC_000002.12:84624902:A:G p.(Asp1452Gly) NC_000002.12:84624902:A:G p.(Asp1452Gly) NC_000002.12:84624902:A:G Identity +NM_001370.2:c.5004A>C NP_001361.1:p.Glu1668Asp NC_000002.12:84641979:A:C p.(Glu1668Asp) NC_000002.12:84641979:A:C p.(Glu1668Asp) NC_000002.12:84641979:A:C Identity +NM_001248.4:c.203C>T NP_001239.2:p.Thr68Ile NC_000003.12:40400927:C:T p.(Thr68Ile) NC_000003.12:40400927:C:T p.(Thr68Ile) NC_000003.12:40400927:C:T Identity +NM_000672.4:c.818T>C NP_000663.1:p.Leu273Pro NC_000004.12:99208677:A:G p.(Leu273Pro) NC_000004.12:99208677:A:G p.(Leu273Pro) NC_000004.12:99208677:A:G Identity +NM_001329126.2:c.6727G>C NP_001316055.1:p.Asp2243His NC_000003.12:132538261:G:C p.(Asp2243His) NC_000003.12:132538261:G:C p.(Asp2243His) NC_000003.12:132538261:G:C Identity +NM_015190.5:c.71G>T NP_056005.1:p.Arg24Leu NC_000010.11:73247118:C:A p.(Arg24Leu) NC_000010.11:73247118:C:A p.(Arg24Leu) NC_000010.11:73247118:C:A Identity +NM_144666.3:c.12196C>T NP_653267.2:p.Arg4066Trp NC_000011.10:6567704:C:T p.(Arg4066Trp) NC_000011.10:6567704:C:T p.(Arg4066Trp) NC_000011.10:6567704:C:T Identity +NM_006532.4:c.1045C>A NP_006523.1:p.Gln349Lys NC_000019.10:18450896:G:T p.(Gln349Lys) NC_000019.10:18450896:G:T p.(Gln349Lys) NC_000019.10:18450896:G:T Identity +NM_152310.3:c.289G>A NP_689523.1:p.Gly97Ser NC_000010.11:102228471:G:A p.(Gly97Ser) NC_000010.11:102228471:G:A p.(Gly97Ser) NC_000010.11:102228471:G:A Identity +NM_003462.5:c.85C>T NP_003453.3:p.Arg29Trp NC_000001.11:37557605:C:T p.(Arg29Trp) NC_000001.11:37557605:C:T p.(Arg29Trp) NC_000001.11:37557605:C:T Identity +NM_001207055.2:c.1614G>C NP_001193984.1:p.Lys538Asn NC_000020.11:32800192:G:C p.(Lys538Asn) NC_000020.11:32800192:G:C p.(Lys538Asn) NC_000020.11:32800192:G:C Identity +NM_014913.4:c.3281G>C NP_055728.1:p.Arg1094Thr NC_000018.10:80138693:G:C p.(Arg1094Thr) NC_000018.10:80138693:G:C p.(Arg1094Thr) NC_000018.10:80138693:G:C Identity +NM_001033113.2:c.623G>C NP_001028285.1:p.Gly208Ala NC_000009.12:137436683:C:G p.(Gly208Ala) NC_000009.12:137436683:C:G p.(Gly208Ala) NC_000009.12:137436683:C:G Identity +NM_001039707.2:c.1271G>A NP_001034796.1:p.Arg424Lys NC_000009.12:136402824:C:T p.(Arg424Lys) NC_000009.12:136402824:C:T p.(Arg424Lys) NC_000009.12:136402824:C:T Identity +NM_000119.3:c.845T>C NP_000110.2:p.Leu282Pro NC_000015.10:43209350:A:G p.(Leu282Pro) NC_000015.10:43209350:A:G p.(Leu282Pro) NC_000015.10:43209350:A:G Identity +NM_001300793.2:c.1496G>T NP_001287722.1:p.Gly499Val NC_000011.10:62606968:C:A p.(Gly499Val) NC_000011.10:62606968:C:A p.(Gly499Val) NC_000011.10:62606968:C:A Identity +NM_001077665.3:c.134T>C NP_001071133.2:p.Met45Thr NC_000010.11:49988848:T:C p.(Met45Thr) NC_000010.11:49988848:T:C p.(Met45Thr) NC_000010.11:49988848:T:C Identity +NM_001164637.3:c.580G>C NP_001158109.1:p.Ala194Pro NC_000017.11:80428595:G:C p.(Ala194Pro) NC_000017.11:80428595:G:C p.(Ala194Pro) NC_000017.11:80428595:G:C Identity +NM_006208.3:c.280A>G NP_006199.2:p.Ile94Val NC_000006.12:131847814:A:G p.(Ile94Val) NC_000006.12:131847814:A:G p.(Ile94Val) NC_000006.12:131847814:A:G Identity +NM_001040092.3:c.1594A>C NP_001035181.1:p.Asn532His NC_000008.11:119582551:T:G p.(Asn532His) NC_000008.11:119582551:T:G p.(Asn532His) NC_000008.11:119582551:T:G Identity +NM_005021.5:c.1294C>T NP_005012.2:p.Pro432Ser NC_000006.12:131693505:C:T p.(Pro432Ser) NC_000006.12:131693505:C:T p.(Pro432Ser) NC_000006.12:131693505:C:T Identity +NM_004147.4:c.442G>A NP_004138.1:p.Val148Ile NC_000022.11:31420284:G:A p.(Val148Ile) NC_000022.11:31420284:G:A p.(Val148Ile) NC_000022.11:31420284:G:A Identity +NM_001282531.3:c.995A>T NP_001269460.1:p.Tyr332Phe NC_000020.11:50893718:T:A p.(Tyr332Phe) NC_000020.11:50893718:T:A p.(Tyr332Phe) NC_000020.11:50893718:T:A Identity +NM_001271999.2:c.796C>G NP_001258928.1:p.Leu266Val NC_000001.11:62647712:G:C p.(Leu266Val) NC_000001.11:62647712:G:C p.(Leu266Val) NC_000001.11:62647712:G:C Identity +NM_001280542.3:c.367C>T NP_001267471.1:p.Arg123Cys NC_000014.9:72731868:G:A p.(Arg123Cys) NC_000014.9:72731868:G:A p.(Arg123Cys) NC_000014.9:72731868:G:A Identity +NM_001256670.2:c.538C>T NP_001243599.1:p.Pro180Ser NC_000011.10:66487967:C:T p.(Pro180Ser) NC_000011.10:66487967:C:T p.(Pro180Ser) NC_000011.10:66487967:C:T Identity +NM_004416.3:c.1529A>G NP_004407.2:p.Asp510Gly NC_000012.12:113095183:A:G p.(Asp510Gly) NC_000012.12:113095183:A:G p.(Asp510Gly) NC_000012.12:113095183:A:G Identity +NM_001276264.2:c.892G>A NP_001263193.1:p.Glu298Lys NC_000015.10:45119245:C:T p.(Glu298Lys) NC_000015.10:45119245:C:T p.(Glu298Lys) NC_000015.10:45119245:C:T Identity +NM_207581.4:c.548C>A NP_997464.2:p.Thr183Lys NC_000015.10:45116722:C:A p.(Thr183Lys) NC_000015.10:45116722:C:A p.(Thr183Lys) NC_000015.10:45116722:C:A Identity +NM_020175.3:c.469G>A NP_064560.2:p.Asp157Asn NC_000019.10:5789637:C:T p.(Asp157Asn) NC_000019.10:5789637:C:T p.(Asp157Asn) NC_000019.10:5789637:C:T Identity +NM_017434.5:c.931C>T NP_059130.2:p.Arg311Trp NC_000015.10:45136533:C:T p.(Arg311Trp) NC_000015.10:45136533:C:T p.(Arg311Trp) NC_000015.10:45136533:C:T Identity +NM_004422.3:c.272C>A NP_004413.1:p.Ser91Tyr NC_000017.11:7230422:G:T p.(Ser91Tyr) NC_000017.11:7230422:G:T p.(Ser91Tyr) NC_000017.11:7230422:G:T Identity +NM_001135187.2:c.686G>C NP_001128659.1:p.Ser229Thr NC_000002.12:227524906:G:C p.(Ser229Thr) NC_000002.12:227524906:G:C p.(Ser229Thr) NC_000002.12:227524906:G:C Identity +NM_001430.5:c.958G>C NP_001421.2:p.Glu320Gln NC_000002.12:46375760:G:C p.(Glu320Gln) NC_000002.12:46375760:G:C p.(Glu320Gln) NC_000002.12:46375760:G:C Identity +NM_001430.5:c.2262G>C NP_001421.2:p.Lys754Asn NC_000002.12:46382063:G:C p.(Lys754Asn) NC_000002.12:46382063:G:C p.(Lys754Asn) NC_000002.12:46382063:G:C Identity +NM_022767.4:c.187C>T NP_073604.3:p.Pro63Ser NC_000015.10:88626395:C:T p.(Pro63Ser) NC_000015.10:88626395:C:T p.(Pro63Ser) NC_000015.10:88626395:C:T Identity +NM_001130455.2:c.608G>T NP_001123927.1:p.Arg203Ile NC_000002.12:71513862:G:T p.(Arg203Ile) NC_000002.12:71513862:G:T p.(Arg203Ile) NC_000002.12:71513862:G:T Identity +NM_000502.6:c.1853C>A NP_000493.1:p.Ala618Asp NC_000017.11:58203224:C:A p.(Ala618Asp) NC_000017.11:58203224:C:A p.(Ala618Asp) NC_000017.11:58203224:C:A Identity +NM_005236.3:c.2064G>C NP_005227.1:p.Met688Ile NC_000016.10:13947659:G:C p.(Met688Ile) NC_000016.10:13947659:G:C p.(Met688Ile) NC_000016.10:13947659:G:C Identity +NM_001142464.3:c.370C>T NP_001135936.1:p.Arg124Trp NC_000019.10:11513947:G:A p.(Arg124Trp) NC_000019.10:11513947:G:A p.(Arg124Trp) NC_000019.10:11513947:G:A Identity +NM_001302455.2:c.371C>T NP_001289384.1:p.Thr124Met NC_000020.11:59321021:C:T p.(Thr124Met) NC_000020.11:59321021:C:T p.(Thr124Met) NC_000020.11:59321021:C:T Identity +NM_001025108.2:c.854A>G NP_001020279.1:p.His285Arg NC_000002.12:100006725:T:C p.(His285Arg) NC_000002.12:100006725:T:C p.(His285Arg) NC_000002.12:100006725:T:C Identity +NM_006076.5:c.607C>T NP_006067.3:p.Arg203Trp NC_000007.14:100554113:C:T p.(Arg203Trp) NC_000007.14:100554113:C:T p.(Arg203Trp) NC_000007.14:100554113:C:T Identity +NM_053046.4:c.335C>G NP_444274.1:p.Ala112Gly NC_000019.10:40800906:C:G p.(Ala112Gly) NC_000019.10:40800906:C:G p.(Ala112Gly) NC_000019.10:40800906:C:G Identity +NM_001136154.1:c.261C>A NP_001129626.1:p.Asn87Lys NC_000021.9:38423557:G:T p.(Asn87Lys) NC_000021.9:38423557:G:T p.(Asn87Lys) NC_000021.9:38423557:G:T Identity +NM_001004320.2:c.458A>C NP_001004320.1:p.Asp153Ala NC_000007.14:15431059:T:G p.(Asp153Ala) NC_000007.14:15431059:T:G p.(Asp153Ala) NC_000007.14:15431059:T:G Identity +NM_000502.6:c.1316T>C NP_000493.1:p.Leu439Pro NC_000017.11:58199572:T:C p.(Leu439Pro) NC_000017.11:58199572:T:C p.(Leu439Pro) NC_000017.11:58199572:T:C Identity +NM_001184796.2:c.299G>A NP_001171725.1:p.Arg100Gln NC_000012.12:56128617:G:A p.(Arg100Gln) NC_000012.12:56128617:G:A p.(Arg100Gln) NC_000012.12:56128617:G:A Identity +NM_001320747.2:c.3959G>A NP_001307676.1:p.Arg1320His NC_000017.11:76009311:C:T p.(Arg1320His) NC_000017.11:76009311:C:T p.(Arg1320His) NC_000017.11:76009311:C:T Identity +NM_014423.4:c.1592G>C NP_055238.1:p.Arg531Pro NC_000005.10:132897037:C:G p.(Arg531Pro) NC_000005.10:132897037:C:G p.(Arg531Pro) NC_000005.10:132897037:C:G Identity +NM_001323553.2:c.832A>G NP_001310482.1:p.Ile278Val NC_000008.11:131968378:A:G p.(Ile278Val) NC_000008.11:131968378:A:G p.(Ile278Val) NC_000008.11:131968378:A:G Identity +NM_001303418.2:c.1099A>G NP_001290347.1:p.Lys367Glu NC_000002.12:127286753:T:C p.(Lys367Glu) NC_000002.12:127286753:T:C p.(Lys367Glu) NC_000002.12:127286753:T:C Identity +NM_001142725.2:c.1562T>C NP_001136197.1:p.Val521Ala NC_000016.10:20798237:A:G p.(Val521Ala) NC_000016.10:20798237:A:G p.(Val521Ala) NC_000016.10:20798237:A:G Identity +NM_001367473.1:c.580G>A NP_001354402.1:p.Glu194Lys NC_000001.11:6440344:G:A p.(Glu194Lys) NC_000001.11:6440344:G:A p.(Glu194Lys) NC_000001.11:6440344:G:A Identity +NM_001163285.2:c.1798G>A NP_001156757.1:p.Gly600Ser NC_000022.11:29299720:G:A p.(Gly600Ser) NC_000022.11:29299720:G:A p.(Gly600Ser) NC_000022.11:29299720:G:A Identity +NM_000130.5:c.5438A>G NP_000121.2:p.Tyr1813Cys NC_000001.11:169528075:T:C p.(Tyr1813Cys) NC_000001.11:169528075:T:C p.(Tyr1813Cys) NC_000001.11:169528075:T:C Identity +NM_001042353.3:c.523G>A NP_001035812.1:p.Ala175Thr NC_000020.11:845326:G:A p.(Ala175Thr) NC_000020.11:845326:G:A p.(Ala175Thr) NC_000020.11:845326:G:A Identity +NM_175885.4:c.220T>A NP_787081.2:p.Ser74Thr NC_000011.10:82733509:A:T p.(Ser74Thr) NC_000011.10:82733509:A:T p.(Ser74Thr) NC_000011.10:82733509:A:T Identity +NM_020223.4:c.471C>A NP_064608.2:p.Asp157Glu NC_000007.14:193669:C:A p.(Asp157Glu) NC_000007.14:193669:C:A p.(Asp157Glu) NC_000007.14:193669:C:A Identity +NM_001146094.2:c.862T>G NP_001139566.1:p.Cys288Gly NC_000015.10:30905524:T:G p.(Cys288Gly) NC_000015.10:30905524:T:G p.(Cys288Gly) NC_000015.10:30905524:T:G Identity +NM_000136.3:c.1253C>T NP_000127.2:p.Pro418Leu NC_000009.12:95111538:G:A p.(Pro418Leu) NC_000009.12:95111538:G:A p.(Pro418Leu) NC_000009.12:95111538:G:A Identity +NM_001447.3:c.4661G>A NP_001438.1:p.Arg1554His NC_000005.10:151549422:C:T p.(Arg1554His) NC_000005.10:151549422:C:T p.(Arg1554His) NC_000005.10:151549422:C:T Identity +NM_001291285.3:c.709A>G NP_001278214.1:p.Asn237Asp NC_000004.12:125317119:A:G p.(Asn237Asp) NC_000004.12:125317119:A:G p.(Asn237Asp) NC_000004.12:125317119:A:G Identity +NM_153230.3:c.1247C>A NP_694962.1:p.Thr416Asn NC_000017.11:6787345:C:A p.(Thr416Asn) NC_000017.11:6787345:C:A p.(Thr416Asn) NC_000017.11:6787345:C:A Identity +NM_001136219.3:c.689C>T NP_001129691.1:p.Ala230Val NC_000001.11:161510902:C:T p.(Ala230Val) NC_000001.11:161510902:C:T p.(Ala230Val) NC_000001.11:161510902:C:T Identity +NM_001159488.2:c.34G>T NP_001152960.1:p.Ala12Ser NC_000001.11:157775792:C:A p.(Ala12Ser) NC_000001.11:157775792:C:A p.(Ala12Ser) NC_000001.11:157775792:C:A Identity +NM_000128.4:c.1094G>C NP_000119.1:p.Gly365Ala NC_000004.12:186280538:G:C p.(Gly365Ala) NC_000004.12:186280538:G:C p.(Gly365Ala) NC_000004.12:186280538:G:C Identity +NM_001442.3:c.311C>T NP_001433.1:p.Thr104Ile NC_000008.11:81479450:G:A p.(Thr104Ile) NC_000008.11:81479450:G:A p.(Thr104Ile) NC_000008.11:81479450:G:A Identity +NM_021727.5:c.111G>C NP_068373.1:p.Lys37Asn NC_000011.10:61891270:C:G p.(Lys37Asn) NC_000011.10:61891270:C:G p.(Lys37Asn) NC_000011.10:61891270:C:G Identity +NM_152701.5:c.746A>C NP_689914.3:p.His249Pro NC_000007.14:48229937:A:C p.(His249Pro) NC_000007.14:48229937:A:C p.(His249Pro) NC_000007.14:48229937:A:C Identity +NM_001145475.3:c.5369G>A NP_001138947.1:p.Gly1790Glu NC_000012.12:50351462:C:T p.(Gly1790Glu) NC_000012.12:50351462:C:T p.(Gly1790Glu) NC_000012.12:50351462:C:T Identity +NM_001256666.2:c.377G>T NP_001243595.1:p.Arg126Leu NC_000004.12:2646770:G:T p.(Arg126Leu) NC_000004.12:2646770:G:T p.(Arg126Leu) NC_000004.12:2646770:G:T Identity +NM_001134.3:c.1178G>A NP_001125.1:p.Cys393Tyr NC_000004.12:73449453:G:A p.(Cys393Tyr) NC_000004.12:73449453:G:A p.(Cys393Tyr) NC_000004.12:73449453:G:A Identity +NM_001300992.2:c.178T>C NP_001287921.1:p.Phe60Leu NC_000019.10:38624095:T:C p.(Phe60Leu) NC_000019.10:38624095:T:C p.(Phe60Leu) NC_000019.10:38624095:T:C Identity +NM_015904.4:c.1634A>G NP_056988.3:p.Glu545Gly NC_000002.12:99376427:A:G p.(Glu545Gly) NC_000002.12:99376427:A:G p.(Glu545Gly) NC_000002.12:99376427:A:G Identity +NM_001267048.2:c.344G>A NP_001253977.2:p.Arg115His NC_000001.11:109164567:G:A p.(Arg115His) NC_000001.11:109164567:G:A p.(Arg115His) NC_000001.11:109164567:G:A Identity +NM_001410876.1:c.391G>A NP_001397805.1:p.Ala131Thr NC_000006.12:35455888:G:A p.(Ala131Thr) NC_000006.12:35455888:G:A p.(Ala131Thr) NC_000006.12:35455888:G:A Identity +NM_001411042.1:c.3680C>T NP_001397971.1:p.Pro1227Leu NC_000009.12:137015427:G:A p.(Pro1227Leu) NC_000009.12:137015427:G:A p.(Pro1227Leu) NC_000009.12:137015427:G:A Identity +NM_016427.3:c.317A>C NP_057511.2:p.Gln106Pro NC_000018.10:47034947:T:G p.(Gln106Pro) NC_000018.10:47034947:T:G p.(Gln106Pro) NC_000018.10:47034947:T:G Identity +NM_001276343.3:c.1576G>T NP_001263272.2:p.Val526Phe NC_000010.11:45826399:C:A p.(Val526Phe) NC_000010.11:45826399:C:A p.(Val526Phe) NC_000010.11:45826399:C:A Identity +NM_001193268.3:c.1396G>A NP_001180197.1:p.Asp466Asn NC_000019.10:45624766:C:T p.(Asp466Asn) NC_000019.10:45624766:C:T p.(Asp466Asn) NC_000019.10:45624766:C:T Identity +NM_005245.4:c.3289C>A NP_005236.2:p.Leu1097Met NC_000004.12:186663589:G:T p.(Leu1097Met) NC_000004.12:186663589:G:T p.(Leu1097Met) NC_000004.12:186663589:G:T Identity +NM_001316936.2:c.584G>T NP_001303865.1:p.Arg195Leu NC_000019.10:9811193:C:A p.(Arg195Leu) NC_000019.10:9811193:C:A p.(Arg195Leu) NC_000019.10:9811193:C:A Identity +NM_001282683.2:c.782C>T NP_001269612.1:p.Ala261Val NC_000016.10:87333984:G:A p.(Ala261Val) NC_000016.10:87333984:G:A p.(Ala261Val) NC_000016.10:87333984:G:A Identity +NM_001424.6:c.247G>A NP_001415.1:p.Val83Met NC_000016.10:10537996:C:T p.(Val83Met) NC_000016.10:10537996:C:T p.(Val83Met) NC_000016.10:10537996:C:T Identity +NM_001077665.3:c.23G>A NP_001071133.2:p.Arg8His NC_000010.11:49988737:G:A p.(Arg8His) NC_000010.11:49988737:G:A p.(Arg8His) NC_000010.11:49988737:G:A Identity +NM_001290072.2:c.269T>G NP_001277001.1:p.Ile90Ser NC_000006.12:46167993:A:C p.(Ile90Ser) NC_000006.12:46167993:A:C p.(Ile90Ser) NC_000006.12:46167993:A:C Identity +NM_001430.5:c.1471T>C NP_001421.2:p.Ser491Pro NC_000002.12:46378683:T:C p.(Ser491Pro) NC_000002.12:46378683:T:C p.(Ser491Pro) NC_000002.12:46378683:T:C Identity +NM_001430.5:c.2402C>A NP_001421.2:p.Pro801Gln NC_000002.12:46382538:C:A p.(Pro801Gln) NC_000002.12:46382538:C:A p.(Pro801Gln) NC_000002.12:46382538:C:A Identity +NM_001385623.1:c.1119C>G NP_001372552.1:p.Ser373Arg NC_000009.12:109255560:G:C p.(Ser373Arg) NC_000009.12:109255560:G:C p.(Ser373Arg) NC_000009.12:109255560:G:C Identity +NM_001430.5:c.2360C>G NP_001421.2:p.Ser787Cys NC_000002.12:46382496:C:G p.(Ser787Cys) NC_000002.12:46382496:C:G p.(Ser787Cys) NC_000002.12:46382496:C:G Identity +NM_001136.5:c.220A>G NP_001127.1:p.Ser74Gly NC_000006.12:32183689:T:C p.(Ser74Gly) NC_000006.12:32183689:T:C p.(Ser74Gly) NC_000006.12:32183689:T:C Identity +NM_018046.5:c.1027G>C NP_060516.2:p.Glu343Gln NC_000005.10:77046502:G:C p.(Glu343Gln) NC_000005.10:77046502:G:C p.(Glu343Gln) NC_000005.10:77046502:G:C Identity +NM_004444.5:c.2126A>C NP_004435.3:p.Asp709Ala NC_000007.14:100807572:T:G p.(Asp709Ala) NC_000007.14:100807572:T:G p.(Asp709Ala) NC_000007.14:100807572:T:G Identity +NM_001130071.2:c.1834G>T NP_001123543.1:p.Ala612Ser NC_000019.10:55695200:G:T p.(Ala612Ser) NC_000019.10:55695200:G:T p.(Ala612Ser) NC_000019.10:55695200:G:T Identity +NM_018998.4:c.514G>A NP_061871.1:p.Val172Ile NC_000009.12:136942780:C:T p.(Val172Ile) NC_000009.12:136942780:C:T p.(Val172Ile) NC_000009.12:136942780:C:T Identity +NM_000570.5:c.196C>T NP_000561.3:p.Leu66Phe NC_000001.11:161629900:G:A p.(Leu66Phe) NC_000001.11:161629900:G:A p.(Leu66Phe) NC_000001.11:161629900:G:A Identity +NM_000124.4:c.1594G>A NP_000115.1:p.Asp532Asn NC_000010.11:49500628:C:T p.(Asp532Asn) NC_000010.11:49500628:C:T p.(Asp532Asn) NC_000010.11:49500628:C:T Identity +NM_001004310.3:c.134C>T NP_001004310.2:p.Thr45Ile NC_000001.11:159808258:C:T p.(Thr45Ile) NC_000001.11:159808258:C:T p.(Thr45Ile) NC_000001.11:159808258:C:T Identity +NM_173549.3:c.694G>C NP_775820.2:p.Glu232Gln NC_000008.11:98089710:G:C p.(Glu232Gln) NC_000008.11:98089710:G:C p.(Glu232Gln) NC_000008.11:98089710:G:C Identity +NM_001002912.5:c.3299C>T NP_001002912.4:p.Ala1100Val NC_000001.11:74572410:G:A p.(Ala1100Val) NC_000001.11:74572410:G:A p.(Ala1100Val) NC_000001.11:74572410:G:A Identity +NM_019002.4:c.396G>C NP_061875.2:p.Glu132Asp NC_000002.12:67399592:G:C p.(Glu132Asp) NC_000002.12:67399592:G:C p.(Glu132Asp) NC_000002.12:67399592:G:C Identity +NM_001142800.2:c.1723T>C NP_001136272.1:p.Cys575Arg NC_000006.12:65335022:A:G p.(Cys575Arg) NC_000006.12:65335022:A:G p.(Cys575Arg) NC_000006.12:65335022:A:G Identity +NM_001323342.2:c.3313A>G NP_001310271.1:p.Thr1105Ala NC_000001.11:246867277:T:C p.(Thr1105Ala) NC_000001.11:246867277:T:C p.(Thr1105Ala) NC_000001.11:246867277:T:C Identity +NM_030802.4:c.241C>T NP_110429.1:p.Pro81Ser NC_000017.11:49732675:G:A p.(Pro81Ser) NC_000017.11:49732675:G:A p.(Pro81Ser) NC_000017.11:49732675:G:A Identity +NM_053279.3:c.56C>A NP_444509.2:p.Ala19Glu NC_000008.11:11444355:G:T p.(Ala19Glu) NC_000008.11:11444355:G:T p.(Ala19Glu) NC_000008.11:11444355:G:T Identity +NM_001163991.2:c.151C>T NP_001157463.1:p.Arg51Cys NC_000005.10:119634039:C:T p.(Arg51Cys) NC_000005.10:119634039:C:T p.(Arg51Cys) NC_000005.10:119634039:C:T Identity +NM_207446.3:c.303T>G NP_997329.2:p.Phe101Leu NC_000015.10:92655356:A:C p.(Phe101Leu) NC_000015.10:92655356:A:C p.(Phe101Leu) NC_000015.10:92655356:A:C Identity +NM_198488.5:c.52G>A NP_940890.4:p.Gly18Arg NC_000008.11:143730530:C:T p.(Gly18Arg) NC_000008.11:143730530:C:T p.(Gly18Arg) NC_000008.11:143730530:C:T Identity +NM_001008781.3:c.803T>G NP_001008781.2:p.Val268Gly NC_000011.10:92352914:T:G p.(Val268Gly) NC_000011.10:92352914:T:G p.(Val268Gly) NC_000011.10:92352914:T:G Identity +NM_001291285.3:c.9118A>C NP_001278214.1:p.Thr3040Pro NC_000004.12:125450127:A:C p.(Thr3040Pro) NC_000004.12:125450127:A:C p.(Thr3040Pro) NC_000004.12:125450127:A:C Identity +NM_001142958.2:c.1450G>C NP_001136430.1:p.Glu484Gln NC_000018.10:74073543:C:G p.(Glu484Gln) NC_000018.10:74073543:C:G p.(Glu484Gln) NC_000018.10:74073543:C:G Identity +NM_001350929.2:c.12324G>T NP_001337858.1:p.Lys4108Asn NC_000014.9:104942826:C:A p.(Lys4108Asn) NC_000014.9:104942826:C:A p.(Lys4108Asn) NC_000014.9:104942826:C:A Identity +NM_012175.4:c.26C>A NP_036307.2:p.Ala9Glu NC_000011.10:33774471:G:T p.(Ala9Glu) NC_000011.10:33774471:G:T p.(Ala9Glu) NC_000011.10:33774471:G:T Identity +NM_001367773.1:c.1904T>G NP_001354702.1:p.Met635Arg NC_000007.14:158741786:A:C p.(Met635Arg) NC_000007.14:158741786:A:C p.(Met635Arg) NC_000007.14:158741786:A:C Identity +NM_018994.3:c.1373G>T NP_061867.1:p.Ser458Ile NC_000001.11:16251450:C:A p.(Ser458Ile) NC_000001.11:16251450:C:A p.(Ser458Ile) NC_000001.11:16251450:C:A Identity +NM_003890.3:c.1493T>C NP_003881.2:p.Met498Thr NC_000019.10:39924542:A:G p.(Met498Thr) NC_000019.10:39924542:A:G p.(Met498Thr) NC_000019.10:39924542:A:G Identity +NM_001320333.2:c.1298G>A NP_001307262.1:p.Gly433Glu NC_000001.11:157695441:C:T p.(Gly433Glu) NC_000001.11:157695441:C:T p.(Gly433Glu) NC_000001.11:157695441:C:T Identity +NM_001142800.2:c.3683T>C NP_001136272.1:p.Met1228Thr NC_000006.12:64617418:A:G p.(Met1228Thr) NC_000006.12:64617418:A:G p.(Met1228Thr) NC_000006.12:64617418:A:G Identity +NM_000130.5:c.5356A>G NP_000121.2:p.Lys1786Glu NC_000001.11:169529670:T:C p.(Lys1786Glu) NC_000001.11:169529670:T:C p.(Lys1786Glu) NC_000001.11:169529670:T:C Identity +NM_000130.5:c.2444G>A NP_000121.2:p.Gly815Asp NC_000001.11:169542645:C:T p.(Gly815Asp) NC_000001.11:169542645:C:T p.(Gly815Asp) NC_000001.11:169542645:C:T Identity +NM_021727.5:c.1153G>A NP_068373.1:p.Glu385Lys NC_000011.10:61876117:C:T p.(Glu385Lys) NC_000011.10:61876117:C:T p.(Glu385Lys) NC_000011.10:61876117:C:T Identity +NM_001145475.3:c.5497A>G NP_001138947.1:p.Thr1833Ala NC_000012.12:50351334:T:C p.(Thr1833Ala) NC_000012.12:50351334:T:C p.(Thr1833Ala) NC_000012.12:50351334:T:C Identity +NM_001346445.2:c.6548A>G NP_001333374.1:p.Lys2183Arg NC_000011.10:62527868:T:C p.(Lys2183Arg) NC_000011.10:62527868:T:C p.(Lys2183Arg) NC_000011.10:62527868:T:C Identity +NM_001013622.3:c.986G>T NP_001013644.1:p.Gly329Val NC_000004.12:1641503:C:A p.(Gly329Val) NC_000004.12:1641503:C:A p.(Gly329Val) NC_000004.12:1641503:C:A Identity +NM_017708.4:c.20C>T NP_060178.2:p.Ala7Val NC_000019.10:48613352:G:A p.(Ala7Val) NC_000019.10:48613352:G:A p.(Ala7Val) NC_000019.10:48613352:G:A Identity +NM_001317917.2:c.1151A>C NP_001304846.2:p.Gln384Pro NC_000008.11:123805333:A:C p.(Gln384Pro) NC_000008.11:123805333:A:C p.(Gln384Pro) NC_000008.11:123805333:A:C Identity +NM_174901.6:c.35T>A NP_777561.1:p.Met12Lys NC_000023.11:13043754:A:T p.(Met12Lys) NC_000023.11:13043754:A:T p.(Met12Lys) NC_000023.11:13043754:A:T Identity +NM_001018113.3:c.190T>C NP_001018123.1:p.Phe64Leu NC_000023.11:14865320:A:G p.(Phe64Leu) NC_000023.11:14865320:A:G p.(Phe64Leu) NC_000023.11:14865320:A:G Identity +NM_001008781.3:c.1555T>C NP_001008781.2:p.Phe519Leu NC_000011.10:92353666:T:C p.(Phe519Leu) NC_000011.10:92353666:T:C p.(Phe519Leu) NC_000011.10:92353666:T:C Identity +NM_001996.4:c.1235G>A NP_001987.3:p.Gly412Asp NC_000022.11:45543439:G:A p.(Gly412Asp) NC_000022.11:45543439:G:A p.(Gly412Asp) NC_000022.11:45543439:G:A Identity +NM_001996.4:c.1309A>G NP_001987.3:p.Arg437Gly NC_000022.11:45543513:A:G p.(Arg437Gly) NC_000022.11:45543513:A:G p.(Arg437Gly) NC_000022.11:45543513:A:G Identity +NM_012162.4:c.361G>T NP_036294.2:p.Val121Leu NC_000008.11:144358086:C:A p.(Val121Leu) NC_000008.11:144358086:C:A p.(Val121Leu) NC_000008.11:144358086:C:A Identity +NM_001142958.2:c.1468A>G NP_001136430.1:p.Ile490Val NC_000018.10:74073525:T:C p.(Ile490Val) NC_000018.10:74073525:T:C p.(Ile490Val) NC_000018.10:74073525:T:C Identity +NM_001282683.2:c.799C>G NP_001269612.1:p.Gln267Glu NC_000016.10:87333967:G:C p.(Gln267Glu) NC_000016.10:87333967:G:C p.(Gln267Glu) NC_000016.10:87333967:G:C Identity +NM_012174.2:c.1279G>A NP_036306.1:p.Glu427Lys NC_000012.12:117024255:G:A p.(Glu427Lys) NC_000012.12:117024255:G:A p.(Glu427Lys) NC_000012.12:117024255:G:A Identity +NM_003890.3:c.2471G>T NP_003881.2:p.Cys824Phe NC_000019.10:39915542:C:A p.(Cys824Phe) NC_000019.10:39915542:C:A p.(Cys824Phe) NC_000019.10:39915542:C:A Identity +NM_003890.3:c.12106G>A NP_003881.2:p.Gly4036Arg NC_000019.10:39883331:C:T p.(Glu4036Lys) NC_000019.10:39867002:C:T p.(Glu4036Lys) NC_000019.10:39867002:C:T Different +NM_001350929.2:c.7427T>C NP_001337858.1:p.Met2476Thr NC_000014.9:104947723:A:G p.(Met2476Thr) NC_000014.9:104947723:A:G p.(Met2476Thr) NC_000014.9:104947723:A:G Identity +NM_001320333.2:c.1108A>G NP_001307262.1:p.Thr370Ala NC_000001.11:157696063:T:C p.(Thr370Ala) NC_000001.11:157696063:T:C p.(Thr370Ala) NC_000001.11:157696063:T:C Identity +NM_017521.3:c.542T>C NP_059991.1:p.Met181Thr NC_000002.12:218981841:A:G p.(Met181Thr) NC_000002.12:218981841:A:G p.(Met181Thr) NC_000002.12:218981841:A:G Identity +NM_001320276.2:c.1604G>C NP_001307205.1:p.Arg535Thr NC_000003.12:14820674:G:C p.(Arg535Thr) NC_000003.12:14820674:G:C p.(Arg535Thr) NC_000003.12:14820674:G:C Identity +NM_004113.6:c.59G>A NP_004104.3:p.Gly20Glu NC_000003.12:192360492:C:T p.(Gly20Glu) NC_000003.12:192360492:C:T p.(Gly20Glu) NC_000003.12:192360492:C:T Identity +NM_020638.3:c.119T>C NP_065689.1:p.Ile40Thr NC_000012.12:4379463:A:G p.(Ile40Thr) NC_000012.12:4379463:A:G p.(Ile40Thr) NC_000012.12:4379463:A:G Identity +NM_001293083.2:c.5530C>T NP_001280012.1:p.Leu1844Phe NC_000002.12:96703184:C:T p.(Leu1844Phe) NC_000002.12:96703184:C:T p.(Leu1844Phe) NC_000002.12:96703184:C:T Identity +NM_017671.5:c.1144A>G NP_060141.3:p.Lys382Glu NC_000020.11:6089084:T:C p.(Lys382Glu) NC_000020.11:6089084:T:C p.(Lys382Glu) NC_000020.11:6089084:T:C Identity +NM_001291980.2:c.2101G>A NP_001278909.1:p.Gly701Arg NC_000005.10:177097571:G:A p.(Gly701Arg) NC_000005.10:177097571:G:A p.(Gly701Arg) NC_000005.10:177097571:G:A Identity +NM_001135051.2:c.1019A>T NP_001128523.1:p.Asp340Val NC_000010.11:114845371:A:T p.(Asp340Val) NC_000010.11:114845371:A:T p.(Asp340Val) NC_000010.11:114845371:A:T Identity +NM_001135212.2:c.403A>T NP_001128684.1:p.Ile135Phe NC_000002.12:178469752:T:A p.(Ile135Phe) NC_000002.12:178469752:T:A p.(Ile135Phe) NC_000002.12:178469752:T:A Identity +NM_002016.2:c.5588G>A NP_002007.1:p.Ser1863Asn NC_000001.11:152309297:C:T p.(Ser1863Asn) NC_000001.11:152309297:C:T p.(Ser1863Asn) NC_000001.11:152309297:C:T Identity +NM_002016.2:c.10831G>A NP_002007.1:p.Ala3611Thr NC_000001.11:152304054:C:T p.(Ala3611Thr) NC_000001.11:152304054:C:T p.(Ala3611Thr) NC_000001.11:152304054:C:T Identity +NM_021939.4:c.539A>T NP_068758.3:p.His180Leu NC_000017.11:41818235:A:T p.(His180Leu) NC_000017.11:41818235:A:T p.(His180Leu) NC_000017.11:41818235:A:T Identity +NM_000801.5:c.303T>A NP_000792.1:p.Asp101Glu NC_000020.11:1372135:A:T p.(Asp101Glu) NC_000020.11:1372135:A:T p.(Asp101Glu) NC_000020.11:1372135:A:T Identity +NM_001014342.3:c.667T>C NP_001014364.1:p.Tyr223His NC_000001.11:152357118:A:G p.(Tyr223His) NC_000001.11:152357118:A:G p.(Tyr223His) NC_000001.11:152357118:A:G Identity +NM_001367835.1:c.528G>C NP_001354764.1:p.Glu176Asp NC_000012.12:49658518:C:G p.(Glu176Asp) NC_000012.12:49658518:C:G p.(Glu176Asp) NC_000012.12:49658518:C:G Identity +NM_001002294.3:c.41G>A NP_001002294.1:p.Gly14Asp NC_000001.11:171092698:G:A p.(Gly14Asp) NC_000001.11:171092698:G:A p.(Gly14Asp) NC_000001.11:171092698:G:A Identity +NM_004109.5:c.74T>C NP_004100.1:p.Leu25Pro NC_000011.10:110430193:T:C p.(Leu25Pro) NC_000011.10:110430193:T:C p.(Leu25Pro) NC_000011.10:110430193:T:C Identity +NM_001350929.2:c.14116C>T NP_001337858.1:p.Pro4706Ser NC_000014.9:104941034:G:A p.(Pro4706Ser) NC_000014.9:104941034:G:A p.(Pro4706Ser) NC_000014.9:104941034:G:A Identity +NM_001308028.2:c.793G>C NP_001294957.1:p.Gly265Arg NC_000005.10:108946210:G:C p.(Gly265Arg) NC_000005.10:108946210:G:C p.(Gly265Arg) NC_000005.10:108946210:G:C Identity +NM_018351.4:c.1850C>T NP_060821.3:p.Pro617Leu NC_000012.12:95209433:G:A p.(Pro617Leu) NC_000012.12:95209433:G:A p.(Pro617Leu) NC_000012.12:95209433:G:A Identity +NM_001346143.2:c.484A>C NP_001333072.1:p.Lys162Gln NC_000014.9:85621997:A:C p.(Lys162Gln) NC_000014.9:85621997:A:C p.(Lys162Gln) NC_000014.9:85621997:A:C Identity +NM_017791.3:c.223C>T NP_060261.2:p.Leu75Phe NC_000014.9:75579194:C:T p.(Leu75Phe) NC_000014.9:75579194:C:T p.(Leu75Phe) NC_000014.9:75579194:C:T Identity +NM_005252.4:c.177C>A NP_005243.1:p.Asn59Lys NC_000014.9:75279911:C:A p.(Asn59Lys) NC_000014.9:75279911:C:A p.(Asn59Lys) NC_000014.9:75279911:C:A Identity +NM_004474.4:c.277G>A NP_004465.3:p.Ala93Thr NC_000001.11:47438411:G:A p.(Ala93Thr) NC_000001.11:47438411:G:A p.(Ala93Thr) NC_000001.11:47438411:G:A Identity +NM_000142.5:c.1204C>A NP_000133.1:p.Pro402Thr NC_000004.12:1804457:C:A p.(Pro402Thr) NC_000004.12:1804457:C:A p.(Pro402Thr) NC_000004.12:1804457:C:A Identity +NM_001281739.3:c.815C>T NP_001268668.1:p.Thr272Met NC_000018.10:36611952:C:T p.(Thr272Met) NC_000018.10:36611952:C:T p.(Thr272Met) NC_000018.10:36611952:C:T Identity +NM_001042459.3:c.932C>T NP_001035924.1:p.Ala311Val NC_000003.12:99850743:G:A p.(Ala311Val) NC_000003.12:99850743:G:A p.(Ala311Val) NC_000003.12:99850743:G:A Identity +NM_012183.3:c.803C>T NP_036315.1:p.Ala268Val NC_000001.11:63323860:C:T p.(Ala268Val) NC_000001.11:63323860:C:T p.(Ala268Val) NC_000001.11:63323860:C:T Identity +NM_018416.3:c.713A>G NP_060886.1:p.Asp238Gly NC_000012.12:8044853:A:G p.(Asp238Gly) NC_000012.12:8044853:A:G p.(Asp238Gly) NC_000012.12:8044853:A:G Identity +NM_033260.4:c.964C>T NP_150285.3:p.Pro322Ser NC_000006.12:1313667:C:T p.(Pro322Ser) NC_000006.12:1313667:C:T p.(Pro322Ser) NC_000006.12:1313667:C:T Identity +NM_033260.4:c.934C>G NP_150285.3:p.Leu312Val NC_000006.12:1313637:C:G p.(Leu312Val) NC_000006.12:1313637:C:G p.(Leu312Val) NC_000006.12:1313637:C:G Identity +NM_001353229.2:c.107A>T NP_001340158.1:p.Glu36Val NC_000017.11:17228030:T:A p.(Glu36Val) NC_000017.11:17228030:T:A p.(Glu36Val) NC_000017.11:17228030:T:A Identity +NM_002016.2:c.7084G>A NP_002007.1:p.Gly2362Arg NC_000001.11:152307801:C:T p.(Gly2362Arg) NC_000001.11:152307801:C:T p.(Gly2362Arg) NC_000001.11:152307801:C:T Identity +NM_002016.2:c.2023G>C NP_002007.1:p.Asp675His NC_000001.11:152312862:C:G p.(Asp675His) NC_000001.11:152312862:C:G p.(Asp675His) NC_000001.11:152312862:C:G Identity +NM_002016.2:c.4202A>G NP_002007.1:p.His1401Arg NC_000001.11:152310683:T:C p.(His1401Arg) NC_000001.11:152310683:T:C p.(His1401Arg) NC_000001.11:152310683:T:C Identity +NM_203402.3:c.182C>T NP_981947.1:p.Ala61Val NC_000014.9:24131744:C:T p.(Ala61Val) NC_000014.9:24131744:C:T p.(Ala61Val) NC_000014.9:24131744:C:T Identity +NM_001353229.2:c.818A>G NP_001340158.1:p.His273Arg NC_000017.11:17222515:T:C p.(His273Arg) NC_000017.11:17222515:T:C p.(His273Arg) NC_000017.11:17222515:T:C Identity +NM_002016.2:c.1550G>A NP_002007.1:p.Arg517His NC_000001.11:152313335:C:T p.(Arg517His) NC_000001.11:152313335:C:T p.(Arg517His) NC_000001.11:152313335:C:T Identity +NM_002016.2:c.6345A>T NP_002007.1:p.Gln2115His NC_000001.11:152308540:T:A p.(Gln2115His) NC_000001.11:152308540:T:A p.(Gln2115His) NC_000001.11:152308540:T:A Identity +NM_001014342.3:c.6049C>G NP_001014364.1:p.Gln2017Glu NC_000001.11:152351736:G:C p.(Gln2017Glu) NC_000001.11:152351736:G:C p.(Gln2017Glu) NC_000001.11:152351736:G:C Identity +NM_033260.4:c.214C>G NP_150285.3:p.Pro72Ala NC_000006.12:1312917:C:G p.(Pro72Ala) NC_000006.12:1312917:C:G p.(Pro72Ala) NC_000006.12:1312917:C:G Identity +NM_001168235.2:c.1927A>T NP_001161707.1:p.Thr643Ser NC_000004.12:143698748:T:A p.(Thr643Ser) NC_000004.12:143698748:T:A p.(Thr643Ser) NC_000004.12:143698748:T:A Identity +NM_001168235.2:c.4808A>G NP_001161707.1:p.Lys1603Arg NC_000004.12:143695867:T:C p.(Lys1603Arg) NC_000004.12:143695867:T:C p.(Lys1603Arg) NC_000004.12:143695867:T:C Identity +NM_001042481.3:c.1421A>G NP_001035946.1:p.Tyr474Cys NC_000014.9:51722032:A:G p.(Tyr474Cys) NC_000014.9:51722032:A:G p.(Tyr474Cys) NC_000014.9:51722032:A:G Identity +NM_015030.2:c.1879A>T NP_055845.1:p.Thr627Ser NC_000004.12:48582603:T:A p.(Thr627Ser) NC_000004.12:48582603:T:A p.(Thr627Ser) NC_000004.12:48582603:T:A Identity +NM_173651.4:c.14165A>G NP_775922.3:p.Asp4722Gly NC_000002.12:185803470:A:G p.(Asp4722Gly) NC_000002.12:185803470:A:G p.(Asp4722Gly) NC_000002.12:185803470:A:G Identity +NM_001164317.2:c.124A>C NP_001157789.1:p.Thr42Pro NC_000003.12:58008687:A:C p.(Thr42Pro) NC_000003.12:58008687:A:C p.(Thr42Pro) NC_000003.12:58008687:A:C Identity +NM_001127487.2:c.4840A>C NP_001120959.1:p.Ile1614Leu NC_000007.14:128848894:A:C p.(Ile1614Leu) NC_000007.14:128848894:A:C p.(Ile1614Leu) NC_000007.14:128848894:A:C Identity +NM_001127487.2:c.6573C>A NP_001120959.1:p.Asp2191Glu NC_000007.14:128854160:C:A p.(Asp2191Glu) NC_000007.14:128854160:C:A p.(Asp2191Glu) NC_000007.14:128854160:C:A Identity +NM_001308068.2:c.1172G>A NP_001294997.1:p.Arg391Gln NC_000016.10:2933504:G:A p.(Arg391Gln) NC_000016.10:2933504:G:A p.(Arg391Gln) NC_000016.10:2933504:G:A Identity +NM_001305424.2:c.1472C>T NP_001292353.1:p.Ala491Val NC_000001.11:240093580:C:T p.(Ala491Val) NC_000001.11:240093580:C:T p.(Ala491Val) NC_000001.11:240093580:C:T Identity +NM_001014342.3:c.5313T>G NP_001014364.1:p.His1771Gln NC_000001.11:152352472:A:C p.(His1771Gln) NC_000001.11:152352472:A:C p.(His1771Gln) NC_000001.11:152352472:A:C Identity +NM_001256265.2:c.13G>C NP_001243194.1:p.Gly5Arg NC_000017.11:18258677:C:G p.(Gly5Arg) NC_000017.11:18258677:C:G p.(Gly5Arg) NC_000017.11:18258677:C:G Identity +NM_001411128.1:c.2323A>G NP_001398057.1:p.Met775Val NC_000017.11:45243899:A:G p.(Met775Val) NC_000017.11:45243899:A:G p.(Met775Val) NC_000017.11:45243899:A:G Identity +NM_024619.4:c.106G>A NP_078895.2:p.Gly36Arg NC_000017.11:82716860:G:A p.(Gly36Arg) NC_000017.11:82716860:G:A p.(Gly36Arg) NC_000017.11:82716860:G:A Identity +NM_001001343.4:c.553C>T NP_001001343.2:p.Arg185Cys NC_000005.10:157342983:G:A p.(Arg185Cys) NC_000005.10:157342983:G:A p.(Arg185Cys) NC_000005.10:157342983:G:A Identity +NM_001014986.3:c.655C>A NP_001014986.1:p.Leu219Met NC_000011.10:49185839:G:T p.(Leu219Met) NC_000011.10:49185839:G:T p.(Leu219Met) NC_000011.10:49185839:G:T Identity +NM_001089.3:c.1057T>C NP_001080.2:p.Phe353Leu NC_000016.10:2317336:A:G p.(Phe353Leu) NC_000016.10:2317336:A:G p.(Phe353Leu) NC_000016.10:2317336:A:G Identity +NM_012186.3:c.872G>T NP_036318.1:p.Gly291Val NC_000001.11:47417186:G:T p.(Gly291Val) NC_000001.11:47417186:G:T p.(Gly291Val) NC_000001.11:47417186:G:T Identity +NM_001128427.3:c.901G>T NP_001121899.1:p.Asp301Tyr NC_000004.12:161587565:C:A p.(Asp301Tyr) NC_000004.12:161587565:C:A p.(Asp301Tyr) NC_000004.12:161587565:C:A Identity +NM_004479.4:c.488C>T NP_004470.1:p.Ser163Leu NC_000009.12:137031250:G:A p.(Ser163Leu) NC_000009.12:137031250:G:A p.(Ser163Leu) NC_000009.12:137031250:G:A Identity +NM_006581.4:c.52A>G NP_006572.2:p.Ile18Val NC_000006.12:96203206:A:G p.(Ile18Val) NC_000006.12:96203206:A:G p.(Ile18Val) NC_000006.12:96203206:A:G Identity +NM_003468.4:c.1388T>C NP_003459.2:p.Ile463Thr NC_000002.12:207767351:A:G p.(Ile463Thr) NC_000002.12:207767351:A:G p.(Ile463Thr) NC_000002.12:207767351:A:G Identity +NM_017559.4:c.634C>T NP_060029.1:p.Leu212Phe NC_000017.11:35129469:C:T p.(Leu212Phe) NC_000017.11:35129469:C:T p.(Leu212Phe) NC_000017.11:35129469:C:T Identity +NM_001347713.2:c.571G>A NP_001334642.1:p.Val191Ile NC_000010.11:93685299:C:T p.(Val191Ile) NC_000010.11:93685299:C:T p.(Val191Ile) NC_000010.11:93685299:C:T Identity +NM_001370060.1:c.1045C>G NP_001356989.1:p.Pro349Ala NC_000009.12:14851417:G:C p.(Pro349Ala) NC_000009.12:14851417:G:C p.(Pro349Ala) NC_000009.12:14851417:G:C Identity +NM_001379081.2:c.3315C>G NP_001366010.1:p.Asn1105Lys NC_000009.12:14805111:G:C p.(Asn1105Lys) NC_000009.12:14805111:G:C p.(Asn1105Lys) NC_000009.12:14805111:G:C Identity +NM_207361.6:c.766T>C NP_997244.4:p.Cys256Arg NC_000013.11:38688109:T:C p.(Cys256Arg) NC_000013.11:38688109:T:C p.(Cys256Arg) NC_000013.11:38688109:T:C Identity +NM_001168235.2:c.197A>G NP_001161707.1:p.Asn66Ser NC_000004.12:143700478:T:C p.(Asn66Ser) NC_000004.12:143700478:T:C p.(Asn66Ser) NC_000004.12:143700478:T:C Identity +NM_001412905.1:c.1793C>G NP_001399834.1:p.Ala598Gly NC_000008.11:28555907:C:G p.(Ala598Gly) NC_000008.11:28555907:C:G p.(Ala598Gly) NC_000008.11:28555907:C:G Identity +NM_207123.3:c.1660G>A NP_997006.1:p.Ala554Thr NC_000004.12:143457753:G:A p.(Ala554Thr) NC_000004.12:143457753:G:A p.(Ala554Thr) NC_000004.12:143457753:G:A Identity +NM_002039.4:c.424A>C NP_002030.2:p.Ile142Leu NC_000004.12:143433546:A:C p.(Ile142Leu) NC_000004.12:143433546:A:C p.(Ile142Leu) NC_000004.12:143433546:A:C Identity +NM_012296.4:c.1000A>G NP_036428.1:p.Arg334Gly NC_000011.10:78226557:T:C p.(Arg334Gly) NC_000011.10:78226557:T:C p.(Arg334Gly) NC_000011.10:78226557:T:C Identity +NM_012296.4:c.323G>A NP_036428.1:p.Ser108Asn NC_000011.10:78250339:C:T p.(Ser108Asn) NC_000011.10:78250339:C:T p.(Ser108Asn) NC_000011.10:78250339:C:T Identity +NM_016248.4:c.5086G>C NP_057332.1:p.Ala1696Pro NC_000013.11:42303831:G:C p.(Ala1696Pro) NC_000013.11:42303831:G:C p.(Ala1696Pro) NC_000013.11:42303831:G:C Identity +NM_002015.4:c.1741G>A NP_002006.2:p.Val581Met NC_000013.11:40559749:C:T p.(Val581Met) NC_000013.11:40559749:C:T p.(Val581Met) NC_000013.11:40559749:C:T Identity +NM_001411012.1:c.2834C>T NP_001397941.1:p.Ala945Val NC_000013.11:32178995:C:T p.(Ala945Val) NC_000013.11:32178995:C:T p.(Ala945Val) NC_000013.11:32178995:C:T Identity +NM_001368395.3:c.3910G>A NP_001355324.1:p.Gly1304Arg NC_000023.11:12718624:G:A p.(Gly1304Arg) NC_000023.11:12718624:G:A p.(Gly1304Arg) NC_000023.11:12718624:G:A Identity +NM_001304514.2:c.368A>G NP_001291443.1:p.Glu123Gly NC_000007.14:152105268:A:G p.(Glu123Gly) NC_000007.14:152105268:A:G p.(Glu123Gly) NC_000007.14:152105268:A:G Identity +NM_001012454.6:c.167A>T NP_001012457.3:p.Glu56Val NC_000007.14:128675660:A:T p.(Glu56Val) NC_000007.14:128675660:A:T p.(Glu56Val) NC_000007.14:128675660:A:T Identity +NM_001145402.2:c.2482C>T NP_001138874.1:p.Arg828Trp NC_000019.10:55358385:G:A p.(Arg828Trp) NC_000019.10:55358385:G:A p.(Arg828Trp) NC_000019.10:55358385:G:A Identity +NM_004274.5:c.4929G>T NP_004265.3:p.Gln1643His NC_000014.9:32822741:G:T p.(Gln1643His) NC_000014.9:32822741:G:T p.(Gln1643His) NC_000014.9:32822741:G:T Identity +NM_001197115.2:c.467G>A NP_001184044.1:p.Arg156Gln NC_000006.12:53514476:C:T p.(Arg156Gln) NC_000006.12:53514476:C:T p.(Arg156Gln) NC_000006.12:53514476:C:T Identity +NM_178311.3:c.556C>T NP_842563.1:p.Arg186Trp NC_000020.11:23985337:G:A p.(Arg186Trp) NC_000020.11:23985337:G:A p.(Arg186Trp) NC_000020.11:23985337:G:A Identity +NM_016095.3:c.517A>T NP_057179.1:p.Asn173Tyr NC_000016.10:85678252:T:A p.(Asn173Tyr) NC_000016.10:85678252:T:A p.(Asn173Tyr) NC_000016.10:85678252:T:A Identity +NM_001286423.2:c.125A>T NP_001273352.1:p.Asp42Val NC_000002.12:219243261:T:A p.(Asp42Val) NC_000002.12:219243261:T:A p.(Asp42Val) NC_000002.12:219243261:T:A Identity +NM_001042413.2:c.1331C>T NP_001035878.1:p.Pro444Leu NC_000009.12:4118146:G:A p.(Pro444Leu) NC_000009.12:4118146:G:A p.(Pro444Leu) NC_000009.12:4118146:G:A Identity +NM_001288998.2:c.2672C>T NP_001275927.1:p.Pro891Leu NC_000019.10:19630116:G:A p.(Pro891Leu) NC_000019.10:19630116:G:A p.(Pro891Leu) NC_000019.10:19630116:G:A Identity +NM_001288998.2:c.1882G>A NP_001275927.1:p.Asp628Asn NC_000019.10:19634621:C:T p.(Asp628Asn) NC_000019.10:19634621:C:T p.(Asp628Asn) NC_000019.10:19634621:C:T Identity +NM_001172713.3:c.433G>A NP_001166184.1:p.Glu145Lys NC_000003.12:37282161:G:A p.(Glu145Lys) NC_000003.12:37282161:G:A p.(Glu145Lys) NC_000003.12:37282161:G:A Identity +NM_173651.4:c.6470A>G NP_775922.3:p.Asn2157Ser NC_000002.12:185793605:A:G p.(Asn2157Ser) NC_000002.12:185793605:A:G p.(Asn2157Ser) NC_000002.12:185793605:A:G Identity +NM_177478.2:c.67C>T NP_803431.1:p.Arg23Cys NC_000005.10:121852029:C:T p.(Arg23Cys) NC_000005.10:121852029:C:T p.(Arg23Cys) NC_000005.10:121852029:C:T Identity +NM_001371533.1:c.1268A>G NP_001358462.1:p.Asn423Ser NC_000014.9:65733238:A:G p.(Asn423Ser) NC_000014.9:65733238:A:G p.(Asn423Ser) NC_000014.9:65733238:A:G Identity +NM_004860.4:c.1286A>C NP_004851.2:p.Tyr429Ser NC_000017.11:7593446:T:G p.(Tyr429Ser) NC_000017.11:7593446:T:G p.(Tyr429Ser) NC_000017.11:7593446:T:G Identity +NM_024642.5:c.1613C>G NP_078918.3:p.Ser538Cys NC_000009.12:98848958:C:G p.(Ser538Cys) NC_000009.12:98848958:C:G p.(Ser538Cys) NC_000009.12:98848958:C:G Identity +NM_001301627.2:c.919A>T NP_001288556.1:p.Thr307Ser NC_000002.12:154259081:A:T p.(Thr307Ser) NC_000002.12:154259081:A:T p.(Thr307Ser) NC_000002.12:154259081:A:T Identity +NM_001023567.5:c.1679A>G NP_001018861.3:p.Gln560Arg NC_000015.10:34527764:T:C p.(Gln560Arg) NC_000015.10:34527764:T:C p.(Gln560Arg) NC_000015.10:34527764:T:C Identity +NM_001321525.2:c.1906G>A NP_001308454.1:p.Ala636Thr NC_000002.12:96023930:C:T p.(Ala636Thr) NC_000002.12:96023930:C:T p.(Ala636Thr) NC_000002.12:96023930:C:T Identity +NM_018025.3:c.2015A>C NP_060495.2:p.His672Pro NC_000019.10:33113888:A:C p.(His672Pro) NC_000019.10:33113888:A:C p.(His672Pro) NC_000019.10:33113888:A:C Identity +NM_018025.3:c.668C>T NP_060495.2:p.Thr223Ile NC_000019.10:33096261:C:T p.(Thr223Ile) NC_000019.10:33096261:C:T p.(Thr223Ile) NC_000019.10:33096261:C:T Identity +NM_001002909.4:c.1025G>A NP_001002909.1:p.Gly342Glu NC_000017.11:44401051:C:T p.(Gly342Glu) NC_000017.11:44401051:C:T p.(Gly342Glu) NC_000017.11:44401051:C:T Identity +NM_003468.4:c.1475G>C NP_003459.2:p.Gly492Ala NC_000002.12:207767264:C:G p.(Gly492Ala) NC_000002.12:207767264:C:G p.(Gly492Ala) NC_000002.12:207767264:C:G Identity +NM_001363598.2:c.32T>C NP_001350527.1:p.Phe11Ser NC_000012.12:10213160:T:C p.(Phe11Ser) NC_000012.12:10213160:T:C p.(Phe11Ser) NC_000012.12:10213160:T:C Identity +NM_002039.4:c.1425G>T NP_002030.2:p.Met475Ile NC_000004.12:143440221:G:T p.(Met475Ile) NC_000004.12:143440221:G:T p.(Met475Ile) NC_000004.12:143440221:G:T Identity +NM_024637.5:c.1138C>T NP_078913.3:p.Arg380Trp NC_000007.14:100160250:G:A p.(Arg380Trp) NC_000007.14:100160250:G:A p.(Arg380Trp) NC_000007.14:100160250:G:A Identity +NM_001319181.2:c.31A>G NP_001306110.1:p.Met11Val NC_000001.11:89020690:T:C p.(Met11Val) NC_000001.11:89020690:T:C p.(Met11Val) NC_000001.11:89020690:T:C Identity +NM_001301687.2:c.315G>A NP_001288616.1:p.Met105Ile NC_000002.12:236167656:C:T p.(Met105Ile) NC_000002.12:236167656:C:T p.(Met105Ile) NC_000002.12:236167656:C:T Identity +NM_004274.5:c.3076G>A NP_004265.3:p.Gly1026Ser NC_000014.9:32732528:G:A p.(Gly1026Ser) NC_000014.9:32732528:G:A p.(Gly1026Ser) NC_000014.9:32732528:G:A Identity +NM_018066.4:c.835A>G NP_060536.3:p.Met279Val NC_000001.11:26884184:T:C p.(Met279Val) NC_000001.11:26884184:T:C p.(Met279Val) NC_000001.11:26884184:T:C Identity +NM_207370.4:c.911G>A NP_997253.2:p.Arg304Gln NC_000001.11:6251405:C:T p.(Arg304Gln) NC_000001.11:6251405:C:T p.(Arg304Gln) NC_000001.11:6251405:C:T Identity +NM_020752.3:c.1276C>G NP_065803.2:p.Leu426Val NC_000010.11:25412413:C:G p.(Leu426Val) NC_000010.11:25412413:C:G p.(Leu426Val) NC_000010.11:25412413:C:G Identity +NM_001004334.4:c.5521G>A NP_001004334.3:p.Glu1841Lys NC_000017.11:38328047:C:T p.(Glu1841Lys) NC_000017.11:38328047:C:T p.(Glu1841Lys) NC_000017.11:38328047:C:T Identity +NM_007264.4:c.1147T>C NP_009195.1:p.Phe383Leu NC_000012.12:56996355:T:C p.(Phe383Leu) NC_000012.12:56996355:T:C p.(Phe383Leu) NC_000012.12:56996355:T:C Identity +NM_024642.5:c.1272C>A NP_078918.3:p.Asp424Glu NC_000009.12:98840060:C:A p.(Asp424Glu) NC_000009.12:98840060:C:A p.(Asp424Glu) NC_000009.12:98840060:C:A Identity +NM_001393928.1:c.2324G>T NP_001380857.1:p.Gly775Val NC_000015.10:42348121:G:T p.(Gly775Val) NC_000015.10:42348121:G:T p.(Gly775Val) NC_000015.10:42348121:G:T Identity +NM_153606.4:c.863C>G NP_705834.2:p.Ala288Gly NC_000001.11:212625739:C:G p.(Ala288Gly) NC_000001.11:212625739:C:G p.(Ala288Gly) NC_000001.11:212625739:C:G Identity +NM_024642.5:c.215C>T NP_078918.3:p.Ala72Val NC_000009.12:98807912:C:T p.(Ala72Val) NC_000009.12:98807912:C:T p.(Ala72Val) NC_000009.12:98807912:C:T Identity +NM_001253826.2:c.871G>A NP_001240755.1:p.Val291Met NC_000002.12:30942275:C:T p.(Val291Met) NC_000002.12:30942275:C:T p.(Val291Met) NC_000002.12:30942275:C:T Identity +NM_001375599.1:c.1559A>G NP_001362528.1:p.Asp520Gly NC_000004.12:173314126:A:G p.(Asp520Gly) NC_000004.12:173314126:A:G p.(Asp520Gly) NC_000004.12:173314126:A:G Identity +NM_001286779.2:c.505T>A NP_001273708.1:p.Leu169Met NC_000009.12:127325071:T:A p.(Leu169Met) NC_000009.12:127325071:T:A p.(Leu169Met) NC_000009.12:127325071:T:A Identity +NM_001130831.2:c.457G>T NP_001124303.1:p.Val153Leu NC_000017.11:9943202:C:A p.(Val153Leu) NC_000017.11:9943202:C:A p.(Val153Leu) NC_000017.11:9943202:C:A Identity +NM_001300946.3:c.478G>A NP_001287875.1:p.Val160Met NC_000019.10:19492655:G:A p.(Val160Met) NC_000019.10:19492655:G:A p.(Val160Met) NC_000019.10:19492655:G:A Identity +NM_005751.5:c.5078G>C NP_005742.4:p.Gly1693Ala NC_000007.14:92042686:G:C p.(Gly1693Ala) NC_000007.14:92042686:G:C p.(Gly1693Ala) NC_000007.14:92042686:G:C Identity +NM_004224.3:c.1721C>T NP_004215.2:p.Pro574Leu NC_000023.11:151181303:C:T p.(Pro574Leu) NC_000023.11:151181303:C:T p.(Pro574Leu) NC_000023.11:151181303:C:T Identity +NM_001143957.3:c.877C>T NP_001137429.1:p.Leu293Phe NC_000006.12:96798854:G:A p.(Leu293Phe) NC_000006.12:96798854:G:A p.(Leu293Phe) NC_000006.12:96798854:G:A Identity +NM_001252156.2:c.2842C>G NP_001239085.1:p.Leu948Val NC_000005.10:154902559:G:C p.(Leu948Val) NC_000005.10:154902559:G:C p.(Leu948Val) NC_000005.10:154902559:G:C Identity +NM_000831.4:c.2324A>T NP_000822.2:p.Tyr775Phe NC_000001.11:36805227:T:A p.(Tyr775Phe) NC_000001.11:36805227:T:A p.(Tyr775Phe) NC_000001.11:36805227:T:A Identity +NM_000835.6:c.2645C>T NP_000826.2:p.Pro882Leu NC_000017.11:74843491:G:A p.(Pro882Leu) NC_000017.11:74843491:G:A p.(Pro882Leu) NC_000017.11:74843491:G:A Identity +NM_000835.6:c.199G>A NP_000826.2:p.Val67Ile NC_000017.11:74854893:C:T p.(Val67Ile) NC_000017.11:74854893:C:T p.(Val67Ile) NC_000017.11:74854893:C:T Identity +NM_001286205.2:c.1048G>C NP_001273134.1:p.Asp350His NC_000016.10:90043204:G:C p.(Asp350His) NC_000016.10:90043204:G:C p.(Asp350His) NC_000016.10:90043204:G:C Identity +NM_001363341.2:c.398A>T NP_001350270.1:p.Lys133Met NC_000004.12:151719467:T:A p.(Lys133Met) NC_000004.12:151719467:T:A p.(Lys133Met) NC_000004.12:151719467:T:A Identity +NM_005751.5:c.3815T>C NP_005742.4:p.Val1272Ala NC_000007.14:92017079:T:C p.(Val1272Ala) NC_000007.14:92017079:T:C p.(Val1272Ala) NC_000007.14:92017079:T:C Identity +NM_024835.5:c.1799A>G NP_079111.1:p.His600Arg NC_000017.11:36587153:A:G p.(His600Arg) NC_000017.11:36587153:A:G p.(His600Arg) NC_000017.11:36587153:A:G Identity +NM_001103146.3:c.1992G>C NP_001096616.1:p.Gln664His NC_000002.12:232811336:G:C p.(Gln664His) NC_000002.12:232811336:G:C p.(Gln664His) NC_000002.12:232811336:G:C Identity +NM_001350896.2:c.976C>G NP_001337825.1:p.Leu326Val NC_000007.14:77360874:G:C p.(Leu326Val) NC_000007.14:77360874:G:C p.(Leu326Val) NC_000007.14:77360874:G:C Identity +NM_001163636.3:c.542C>T NP_001157108.1:p.Ser181Leu NC_000007.14:74700414:C:T p.(Ser181Leu) NC_000007.14:74700414:C:T p.(Ser181Leu) NC_000007.14:74700414:C:T Identity +NM_006836.2:c.3725A>G NP_006827.1:p.Asn1242Ser NC_000012.12:120153885:T:C p.(Asn1242Ser) NC_000012.12:120153885:T:C p.(Asn1242Ser) NC_000012.12:120153885:T:C Identity +NM_006836.2:c.2131C>T NP_006827.1:p.Pro711Ser NC_000012.12:120162878:G:A p.(Pro711Ser) NC_000012.12:120162878:G:A p.(Pro711Ser) NC_000012.12:120162878:G:A Identity +NM_020634.3:c.55G>C NP_065685.1:p.Gly19Arg NC_000012.12:7695673:C:G p.(Gly19Arg) NC_000012.12:7695673:C:G p.(Gly19Arg) NC_000012.12:7695673:C:G Identity +NM_001115156.2:c.338T>C NP_001108628.1:p.Phe113Ser NC_000010.11:5785965:A:G p.(Phe113Ser) NC_000010.11:5785965:A:G p.(Phe113Ser) NC_000010.11:5785965:A:G Identity +NM_015721.3:c.626C>T NP_056536.2:p.Ala209Val NC_000017.11:747416:G:A p.(Ala209Val) NC_000017.11:747416:G:A p.(Ala209Val) NC_000017.11:747416:G:A Identity +NM_001172557.2:c.382C>T NP_001166028.1:p.Leu128Phe NC_000012.12:132816563:G:A p.(Leu128Phe) NC_000012.12:132816563:G:A p.(Leu128Phe) NC_000012.12:132816563:G:A Identity +NM_001042413.2:c.2567C>G NP_001035878.1:p.Ser856Trp NC_000009.12:3829398:G:C p.(Ser856Trp) NC_000009.12:3829398:G:C p.(Ser856Trp) NC_000009.12:3829398:G:C Identity +NM_001042413.2:c.2072C>A NP_001035878.1:p.Ala691Asp NC_000009.12:3898746:G:T p.(Ala691Asp) NC_000009.12:3898746:G:T p.(Ala691Asp) NC_000009.12:3898746:G:T Identity +NM_000855.3:c.781A>C NP_000846.1:p.Ile261Leu NC_000011.10:106939884:T:G p.(Ile261Leu) NC_000011.10:106939884:T:G p.(Ile261Leu) NC_000011.10:106939884:T:G Identity +NM_173601.2:c.305C>T NP_775872.1:p.Ala102Val NC_000012.12:42129767:G:A p.(Ala102Val) NC_000012.12:42129767:G:A p.(Ala102Val) NC_000012.12:42129767:G:A Identity +NM_015044.4:c.1147G>A NP_055859.1:p.Val383Ile NC_000016.10:23478893:C:T p.(Val383Ile) NC_000016.10:23478893:C:T p.(Val383Ile) NC_000016.10:23478893:C:T Identity +NM_001083899.2:c.326G>A NP_001077368.2:p.Gly109Glu NC_000019.10:55027861:C:T p.(Gly109Glu) NC_000019.10:55027861:C:T p.(Gly109Glu) NC_000019.10:55027861:C:T Identity +NM_001199237.1:c.811G>A NP_001186166.1:p.Gly271Arg NC_000006.12:31662525:C:T p.(Gly271Arg) NC_000006.12:31662525:C:T p.(Gly271Arg) NC_000006.12:31662525:C:T Identity +NM_001323623.2:c.2293C>T NP_001310552.1:p.Arg765Cys NC_000001.11:37566961:G:A p.(Arg765Cys) NC_000001.11:37566961:G:A p.(Arg765Cys) NC_000001.11:37566961:G:A Identity +NM_001368071.2:c.1526C>T NP_001355000.1:p.Ala509Val NC_000015.10:34381780:G:A p.(Ala509Val) NC_000015.10:34381780:G:A p.(Ala509Val) NC_000015.10:34381780:G:A Identity +NM_001256486.2:c.6173A>G NP_001243415.1:p.Gln2058Arg NC_000003.12:121694349:T:C p.(Gln2058Arg) NC_000003.12:121694349:T:C p.(Gln2058Arg) NC_000003.12:121694349:T:C Identity +NM_021817.3:c.194G>C NP_068589.1:p.Ser65Thr NC_000001.11:156623914:G:C p.(Ser65Thr) NC_000001.11:156623914:G:C p.(Ser65Thr) NC_000001.11:156623914:G:C Identity +NM_005328.3:c.38T>C NP_005319.1:p.Ile13Thr NC_000008.11:121629302:A:G p.(Ile13Thr) NC_000008.11:121629302:A:G p.(Ile13Thr) NC_000008.11:121629302:A:G Identity +NM_001324092.2:c.592G>A NP_001311021.1:p.Val198Ile NC_000015.10:69268752:G:A p.(Val198Ile) NC_000015.10:69268752:G:A p.(Val198Ile) NC_000015.10:69268752:G:A Identity +NM_001270396.2:c.221A>G NP_001257325.1:p.Asn74Ser NC_000012.12:75391336:A:G p.(Asn74Ser) NC_000012.12:75391336:A:G p.(Asn74Ser) NC_000012.12:75391336:A:G Identity +NM_001038705.3:c.1595G>A NP_001033794.1:p.Arg532Lys NC_000003.12:154421066:C:T p.(Arg532Lys) NC_000003.12:154421066:C:T p.(Arg532Lys) NC_000003.12:154421066:C:T Identity +NM_001033045.4:c.353G>A NP_001028217.1:p.Cys118Tyr NC_000002.12:174481603:C:T p.(Cys118Tyr) NC_000002.12:174481603:C:T p.(Cys118Tyr) NC_000002.12:174481603:C:T Identity +NM_018969.6:c.806G>A NP_061842.1:p.Ser269Asn NC_000023.11:53077426:G:A p.(Ser269Asn) NC_000023.11:53077426:G:A p.(Ser269Asn) NC_000023.11:53077426:G:A Identity +NM_001244949.2:c.167T>A NP_001231878.1:p.Met56Lys NC_000010.11:112180530:A:T p.(Met56Lys) NC_000010.11:112180530:A:T p.(Met56Lys) NC_000010.11:112180530:A:T Identity +NM_001199237.1:c.692G>A NP_001186166.1:p.Arg231His NC_000006.12:31662644:C:T p.(Arg231His) NC_000006.12:31662644:C:T p.(Arg231His) NC_000006.12:31662644:C:T Identity +NM_005477.3:c.595C>G NP_005468.1:p.Gln199Glu NC_000015.10:73367675:G:C p.(Gln199Glu) NC_000015.10:73367675:G:C p.(Gln199Glu) NC_000015.10:73367675:G:C Identity +NM_001527.4:c.959C>G NP_001518.3:p.Ala320Gly NC_000006.12:113946030:G:C p.(Ala320Gly) NC_000006.12:113946030:G:C p.(Ala320Gly) NC_000006.12:113946030:G:C Identity +NM_001177478.2:c.1115G>T NP_001170949.1:p.Cys372Phe NC_000023.11:84440547:C:A p.(Cys372Phe) NC_000023.11:84440547:C:A p.(Cys372Phe) NC_000023.11:84440547:C:A Identity +NM_000696.4:c.1480G>A NP_000687.3:p.Gly494Ser NC_000001.11:165663126:C:T p.(Gly494Ser) NC_000001.11:165663126:C:T p.(Gly494Ser) NC_000001.11:165663126:C:T Identity +NM_001172557.2:c.2391A>T NP_001166028.1:p.Arg797Ser NC_000012.12:132795929:T:A p.(Arg797Ser) NC_000012.12:132795929:T:A p.(Arg797Ser) NC_000012.12:132795929:T:A Identity +NM_001330345.2:c.206C>T NP_001317274.1:p.Thr69Met NC_000011.10:94401041:G:A p.(Thr69Met) NC_000011.10:94401041:G:A p.(Thr69Met) NC_000011.10:94401041:G:A Identity +NM_001008397.4:c.605T>G NP_001008398.2:p.Ile202Ser NC_000005.10:55164192:T:G p.(Ile202Ser) NC_000005.10:55164192:T:G p.(Ile202Ser) NC_000005.10:55164192:T:G Identity +NM_001366660.1:c.1387G>A NP_001353589.1:p.Gly463Ser NC_000022.11:46673738:G:A p.(Gly463Ser) NC_000022.11:46673738:G:A p.(Gly463Ser) NC_000022.11:46673738:G:A Identity +NM_001366660.1:c.219C>G NP_001353589.1:p.Asp73Glu NC_000022.11:46626939:C:G p.(Asp73Glu) NC_000022.11:46626939:C:G p.(Asp73Glu) NC_000022.11:46626939:C:G Identity +NM_015698.6:c.341A>C NP_056513.2:p.Lys114Thr NC_000023.11:49122512:T:G p.(Lys114Thr) NC_000023.11:49122512:T:G p.(Lys114Thr) NC_000023.11:49122512:T:G Identity +NM_005290.4:c.356G>A NP_005281.1:p.Cys119Tyr NC_000003.12:98532388:G:A p.(Cys119Tyr) NC_000003.12:98532388:G:A p.(Cys119Tyr) NC_000003.12:98532388:G:A Identity +NM_001161415.2:c.901C>T NP_001154887.1:p.Arg301Cys NC_000002.12:127651551:C:T p.(Arg301Cys) NC_000002.12:127651551:C:T p.(Arg301Cys) NC_000002.12:127651551:C:T Identity +NM_015382.4:c.4028T>C NP_056197.3:p.Val1343Ala NC_000014.9:31129342:A:G p.(Val1343Ala) NC_000014.9:31129342:A:G p.(Val1343Ala) NC_000014.9:31129342:A:G Identity +NM_001287059.2:c.41A>G NP_001273988.1:p.Asn14Ser NC_000007.14:43311775:A:G p.(Asn14Ser) NC_000007.14:43311775:A:G p.(Asn14Ser) NC_000007.14:43311775:A:G Identity +NM_001037335.2:c.1495C>T NP_001032412.2:p.Pro499Ser NC_000020.11:63568592:G:A p.(Pro499Ser) NC_000020.11:63568592:G:A p.(Pro499Ser) NC_000020.11:63568592:G:A Identity +NM_001017408.3:c.653G>A NP_001017408.1:p.Arg218Gln NC_000006.12:117573605:C:T p.(Arg218Gln) NC_000006.12:117573605:C:T p.(Arg218Gln) NC_000006.12:117573605:C:T Identity +NM_001256421.1:c.804T>A NP_001243350.1:p.His268Gln NC_000004.12:83594909:T:A p.(His268Gln) NC_000004.12:83594909:T:A p.(His268Gln) NC_000004.12:83594909:T:A Identity +NM_005708.5:c.1273G>A NP_005699.1:p.Gly425Arg NC_000013.11:94382533:G:A p.(Gly425Arg) NC_000013.11:94382533:G:A p.(Gly425Arg) NC_000013.11:94382533:G:A Identity +NM_015698.6:c.628A>C NP_056513.2:p.Thr210Pro NC_000023.11:49117748:T:G p.(Thr210Pro) NC_000023.11:49117748:T:G p.(Thr210Pro) NC_000023.11:49117748:T:G Identity +NM_000834.5:c.1874G>T NP_000825.2:p.Gly625Val NC_000012.12:13608738:C:A p.(Gly625Val) NC_000012.12:13608738:C:A p.(Gly625Val) NC_000012.12:13608738:C:A Identity +NM_001508.3:c.375C>A NP_001499.1:p.His125Gln NC_000002.12:132417416:C:A p.(His125Gln) NC_000002.12:132417416:C:A p.(His125Gln) NC_000002.12:132417416:C:A Identity +NM_001199818.1:c.1694G>C NP_001186747.1:p.Arg565Pro NC_000023.11:102716562:G:C p.(Arg565Pro) NC_000023.11:102716562:G:C p.(Arg565Pro) NC_000023.11:102716562:G:C Identity +NM_001145638.3:c.463G>T NP_001139110.2:p.Val155Leu NC_000009.12:136336956:G:T p.(Val155Leu) NC_000009.12:136336956:G:T p.(Val155Leu) NC_000009.12:136336956:G:T Identity +NM_000581.4:c.50A>G NP_000572.2:p.Tyr17Cys NC_000003.12:49358228:T:C p.(Tyr17Cys) NC_000003.12:49358228:T:C p.? NC_000003.12:49358228:T:C Identity +NM_001004127.3:c.1363A>T NP_001004127.2:p.Met455Leu NC_000013.11:52028473:A:T p.(Met455Leu) NC_000013.11:52028473:A:T p.(Met455Leu) NC_000013.11:52028473:A:T Identity +NM_001165136.2:c.1069G>A NP_001158608.1:p.Ala357Thr NC_000004.12:88398185:G:A p.(Ala357Thr) NC_000004.12:88398185:G:A p.(Ala357Thr) NC_000004.12:88398185:G:A Identity +NM_001271854.2:c.39C>G NP_001258783.1:p.Ser13Arg NC_000015.10:39919987:G:C p.(Ser13Arg) NC_000015.10:39919987:G:C p.(Ser13Arg) NC_000015.10:39919987:G:C Identity +NM_001004334.4:c.6026A>T NP_001004334.3:p.Lys2009Ile NC_000017.11:38327542:T:A p.(Lys2009Ile) NC_000017.11:38327542:T:A p.(Lys2009Ile) NC_000017.11:38327542:T:A Identity +NM_007227.3:c.895G>T NP_009158.3:p.Gly299Cys NC_000002.12:105242752:G:T p.(Gly299Cys) NC_000002.12:105242752:G:T p.(Gly299Cys) NC_000002.12:105242752:G:T Identity +NM_001014431.2:c.1130A>C NP_001014431.1:p.Lys377Thr NC_000014.9:104772919:T:G p.(Lys377Thr) NC_000014.9:104772919:T:G p.(Lys377Thr) NC_000014.9:104772919:T:G Identity +NM_001130006.2:c.1163A>G NP_001123478.2:p.Asn388Ser NC_000016.10:11886557:T:C p.(Asn388Ser) NC_000016.10:11886557:T:C p.(Asn388Ser) NC_000016.10:11886557:T:C Identity +NM_001199207.2:c.697A>C NP_001186136.1:p.Lys233Gln NC_000007.14:74518317:A:C p.(Lys233Gln) NC_000007.14:74518317:A:C p.(Lys233Gln) NC_000007.14:74518317:A:C Identity +NM_001286242.2:c.5445C>A NP_001273171.1:p.His1815Gln NC_000016.10:27464746:G:T p.(His1815Gln) NC_000016.10:27464746:G:T p.(His1815Gln) NC_000016.10:27464746:G:T Identity +NM_001301030.2:c.1366G>A NP_001287959.1:p.Glu456Lys NC_000019.10:42042658:C:T p.(Glu456Lys) NC_000019.10:42042658:C:T p.(Glu456Lys) NC_000019.10:42042658:C:T Identity +NM_080819.5:c.186C>G NP_543009.2:p.Phe62Leu NC_000004.12:8581167:C:G p.(Phe62Leu) NC_000004.12:8581167:C:G p.(Phe62Leu) NC_000004.12:8581167:C:G Identity +NM_198281.3:c.2320G>C NP_938022.2:p.Val774Leu NC_000004.12:89247790:C:G p.(Val774Leu) NC_000004.12:89247790:C:G p.(Val774Leu) NC_000004.12:89247790:C:G Identity +NM_182701.1:c.395T>C NP_874360.1:p.Phe132Ser NC_000006.12:28505766:A:G p.(Phe132Ser) NC_000006.12:28505766:A:G p.? NC_000006.12:28505766:A:G Identity +NM_012067.3:c.322G>T NP_036199.2:p.Asp108Tyr NC_000001.11:19286264:C:A p.(Asp108Tyr) NC_000001.11:19286264:C:A p.(Asp108Tyr) NC_000001.11:19286264:C:A Identity +NM_001286732.2:c.419T>C NP_001273661.1:p.Val140Ala NC_000013.11:113350894:A:G p.(Val140Ala) NC_000013.11:113350894:A:G p.(Val140Ala) NC_000013.11:113350894:A:G Identity +NM_005315.2:c.185C>A NP_005306.1:p.Ala62Glu NC_000022.11:19150098:G:T p.(Ala62Glu) NC_000022.11:19150098:G:T p.(Ala62Glu) NC_000022.11:19150098:G:T Identity +NM_000849.5:c.335G>A NP_000840.2:p.Arg112His NC_000001.11:109738127:C:T p.(Arg112His) NC_000001.11:109738127:C:T p.(Arg112His) NC_000001.11:109738127:C:T Identity +NM_022462.4:c.770G>C NP_071907.4:p.Gly257Ala NC_000019.10:46312604:G:C p.(Gly257Ala) NC_000019.10:46312604:G:C p.(Gly257Ala) NC_000019.10:46312604:G:C Identity +NM_002114.4:c.7051G>C NP_002105.3:p.Val2351Leu NC_000006.12:12163354:G:C p.(Val2351Leu) NC_000006.12:12163354:G:C p.(Val2351Leu) NC_000006.12:12163354:G:C Identity +NM_001368719.1:c.211G>A NP_001355648.1:p.Glu71Lys NC_000015.10:32730900:G:A p.(Glu71Lys) NC_000015.10:32730900:G:A p.(Glu71Lys) NC_000015.10:32730900:G:A Identity +NM_001145118.2:c.3430C>T NP_001138590.1:p.Arg1144Trp NC_000007.14:6498197:G:A p.(Arg1144Trp) NC_000007.14:6498197:G:A p.(Arg1144Trp) NC_000007.14:6498197:G:A Identity +NM_001079870.1:c.1440G>T NP_001073339.1:p.Met480Ile NC_000017.11:41725069:C:A p.(Met480Ile) NC_000017.11:41725069:C:A p.(Met480Ile) NC_000017.11:41725069:C:A Identity +NM_001303143.2:c.343C>G NP_001290072.1:p.Leu115Val NC_000004.12:2240603:G:C p.(Leu115Val) NC_000004.12:2240603:G:C p.(Leu115Val) NC_000004.12:2240603:G:C Identity +NM_001410705.1:c.3682C>T NP_001397634.1:p.Leu1228Phe NC_000023.11:153954716:G:A p.(Leu1228Phe) NC_000023.11:153954716:G:A p.(Leu1228Phe) NC_000023.11:153954716:G:A Identity +NM_016426.7:c.388C>T NP_057510.5:p.Arg130Trp NC_000022.11:46308568:C:T p.(Arg130Trp) NC_000022.11:46308568:C:T p.(Arg130Trp) NC_000022.11:46308568:C:T Identity +NM_031935.3:c.2357C>T NP_114141.2:p.Thr786Ile NC_000001.11:185970478:C:T p.(Thr786Ile) NC_000001.11:185970478:C:T p.(Thr786Ile) NC_000001.11:185970478:C:T Identity +NM_006735.4:c.86C>G NP_006726.1:p.Ala29Gly NC_000007.14:27102414:G:C p.(Ala29Gly) NC_000007.14:27102414:G:C p.(Ala29Gly) NC_000007.14:27102414:G:C Identity +NM_001014431.2:c.601G>A NP_001014431.1:p.Val201Ile NC_000014.9:104774969:C:T p.(Val201Ile) NC_000014.9:104774969:C:T p.(Val201Ile) NC_000014.9:104774969:C:T Identity +NM_001364567.2:c.589T>A NP_001351496.1:p.Ser197Thr NC_000005.10:71048821:A:T p.(Ser197Thr) NC_000005.10:71048821:A:T p.(Ser197Thr) NC_000005.10:71048821:A:T Identity +NM_012086.5:c.2274A>C NP_036218.1:p.Gln758His NC_000002.12:196770025:T:G p.(Gln758His) NC_000002.12:196770025:T:G p.(Gln758His) NC_000002.12:196770025:T:G Identity +NM_001884.4:c.505C>T NP_001875.1:p.Arg169Cys NC_000005.10:83644632:G:A p.(Arg169Cys) NC_000005.10:83644632:G:A p.(Arg169Cys) NC_000005.10:83644632:G:A Identity +NM_173811.4:c.952A>G NP_776172.1:p.Met318Val NC_000011.10:46603627:T:C p.(Met318Val) NC_000011.10:46603627:T:C p.(Met318Val) NC_000011.10:46603627:T:C Identity +NM_016426.7:c.680C>T NP_057510.5:p.Thr227Ile NC_000022.11:46308860:C:T p.(Thr227Ile) NC_000022.11:46308860:C:T p.(Thr227Ile) NC_000022.11:46308860:C:T Identity +NM_000688.6:c.1390G>A NP_000679.1:p.Val464Ile NC_000003.12:52211341:G:A p.(Val464Ile) NC_000003.12:52211341:G:A p.(Val464Ile) NC_000003.12:52211341:G:A Identity +NM_001317012.2:c.2129T>C NP_001303941.1:p.Met710Thr NC_000020.11:23370433:T:C p.(Met710Thr) NC_000020.11:23370433:T:C p.(Met710Thr) NC_000020.11:23370433:T:C Identity +NM_005319.4:c.95C>T NP_005310.1:p.Pro32Leu NC_000006.12:26056333:G:A p.(Pro32Leu) NC_000006.12:26056333:G:A p.(Pro32Leu) NC_000006.12:26056333:G:A Identity +NM_001098540.3:c.35C>T NP_001092010.1:p.Pro12Leu NC_000004.12:83334747:G:A p.(Pro12Leu) NC_000004.12:83334747:G:A p.(Pro12Leu) NC_000004.12:83334747:G:A Identity +NM_005144.5:c.3086G>A NP_005135.2:p.Arg1029Gln NC_000008.11:22119174:C:T p.(Arg1029Gln) NC_000008.11:22119174:C:T p.(Arg1029Gln) NC_000008.11:22119174:C:T Identity +NM_006118.4:c.180A>C NP_006109.2:p.Glu60Asp NC_000001.11:154273461:A:C p.(Glu60Asp) NC_000001.11:154273461:A:C p.(Glu60Asp) NC_000001.11:154273461:A:C Identity +NM_001166269.2:c.266A>C NP_001159741.1:p.Gln89Pro NC_000014.9:22952391:T:G p.(Gln89Pro) NC_000014.9:22952391:T:G p.(Gln89Pro) NC_000014.9:22952391:T:G Identity +NM_000558.5:c.304C>G NP_000549.1:p.Leu102Val NC_000016.10:177285:C:G p.(Leu102Val) NC_000016.10:177285:C:G p.(Leu102Val) NC_000016.10:177285:C:G Identity +NM_005347.5:c.1304A>G NP_005338.1:p.Lys435Arg NC_000009.12:125238238:T:C p.(Lys435Arg) NC_000009.12:125238238:T:C p.(Lys435Arg) NC_000009.12:125238238:T:C Identity +NM_001291860.2:c.10757G>A NP_001278789.1:p.Arg3586His NC_000001.11:21833891:C:T p.(Arg3586His) NC_000001.11:21833891:C:T p.(Arg3586His) NC_000001.11:21833891:C:T Identity +NM_000201.3:c.647C>A NP_000192.2:p.Ala216Glu NC_000019.10:10284041:C:A p.(Ala216Glu) NC_000019.10:10284041:C:A p.(Ala216Glu) NC_000019.10:10284041:C:A Identity +NM_001284274.3:c.1121A>G NP_001271203.2:p.Gln374Arg NC_000010.11:91487695:A:G p.(Gln374Arg) NC_000010.11:91487695:A:G p.(Gln374Arg) NC_000010.11:91487695:A:G Identity +NM_001370285.1:c.2717G>A NP_001357214.1:p.Arg906His NC_000012.12:66331199:G:A p.(Arg906His) NC_000012.12:66331199:G:A p.(Arg906His) NC_000012.12:66331199:G:A Identity +NM_001220484.1:c.868C>A NP_001207413.1:p.Pro290Thr NC_000014.9:73522284:G:T p.(Pro290Thr) NC_000014.9:73522284:G:T p.(Pro290Thr) NC_000014.9:73522284:G:T Identity +NM_001002017.2:c.190C>A NP_001002017.1:p.Pro64Thr NC_000016.10:3023266:G:T p.(Pro64Thr) NC_000016.10:3023266:G:T p.(Pro64Thr) NC_000016.10:3023266:G:T Identity +NM_001378414.1:c.3192G>A NP_001365343.1:p.Met1064Ile NC_000002.12:239053497:C:T p.(Met1064Ile) NC_000002.12:239053497:C:T p.(Met1064Ile) NC_000002.12:239053497:C:T Identity +NM_001306146.2:c.1429A>G NP_001293075.1:p.Ser477Gly NC_000015.10:50242720:T:C p.(Ser477Gly) NC_000015.10:50242720:T:C p.(Ser477Gly) NC_000015.10:50242720:T:C Identity +NM_004667.6:c.7777A>G NP_004658.3:p.Lys2593Glu NC_000015.10:28198708:T:C p.(Lys2593Glu) NC_000015.10:28198708:T:C p.(Lys2593Glu) NC_000015.10:28198708:T:C Identity +NM_005524.4:c.587C>T NP_005515.1:p.Pro196Leu NC_000003.12:194137976:C:T p.(Pro196Leu) NC_000003.12:194137976:C:T p.(Pro196Leu) NC_000003.12:194137976:C:T Identity +NM_019089.5:c.272G>C NP_061962.2:p.Ser91Thr NC_000001.11:6419122:C:G p.(Ser91Thr) NC_000001.11:6419122:C:G p.(Ser91Thr) NC_000001.11:6419122:C:G Identity +NM_004712.5:c.1243G>A NP_004703.1:p.Ala415Thr NC_000017.11:81695848:G:A p.(Ala415Thr) NC_000017.11:81695848:G:A p.(Ala415Thr) NC_000017.11:81695848:G:A Identity +NM_015325.3:c.4532G>A NP_056140.1:p.Arg1511Gln NC_000005.10:5463865:G:A p.(Arg1511Gln) NC_000005.10:5463865:G:A p.(Arg1511Gln) NC_000005.10:5463865:G:A Identity +NM_001136265.2:c.88G>A NP_001129737.1:p.Gly30Ser NC_000001.11:18956244:C:T p.(Gly30Ser) NC_000001.11:18956244:C:T p.(Gly30Ser) NC_000001.11:18956244:C:T Identity +NM_001414505.1:c.32G>C NP_001401434.1:p.Arg11Thr NC_000021.9:33241953:G:C p.(Arg11Thr) NC_000021.9:33241953:G:C p.(Arg11Thr) NC_000021.9:33241953:G:C Identity +NM_001411010.1:c.4138G>T NP_001397939.1:p.Val1380Phe NC_000014.9:31129091:C:A p.(Val1380Phe) NC_000014.9:31129091:C:A p.(Val1380Phe) NC_000014.9:31129091:C:A Identity +NM_024602.6:c.1028C>T NP_078878.3:p.Thr343Ile NC_000001.11:45009187:G:A p.(Thr343Ile) NC_000001.11:45009187:G:A p.(Thr343Ile) NC_000001.11:45009187:G:A Identity +NM_001304840.3:c.1631G>C NP_001291769.1:p.Arg544Pro NC_000002.12:196306602:C:G p.(Arg544Pro) NC_000002.12:196306602:C:G p.(Arg544Pro) NC_000002.12:196306602:C:G Identity +NM_001297755.2:c.1820C>T NP_001284684.2:p.Ala607Val NC_000004.12:83436884:G:A p.(Ala607Val) NC_000004.12:83436884:G:A p.(Ala607Val) NC_000004.12:83436884:G:A Identity +NM_001037335.2:c.1390C>T NP_001032412.2:p.Arg464Cys NC_000020.11:63568697:G:A p.(Arg464Cys) NC_000020.11:63568697:G:A p.(Arg464Cys) NC_000020.11:63568697:G:A Identity +NM_001130860.6:c.3089A>C NP_001124332.2:p.Glu1030Ala NC_000023.11:66260151:A:C p.(Glu1030Ala) NC_000023.11:66260151:A:C p.(Glu1030Ala) NC_000023.11:66260151:A:C Identity +NM_001098672.2:c.242G>A NP_001092142.1:p.Arg81His NC_000011.10:94045743:G:A p.(Arg81His) NC_000011.10:94045743:G:A p.(Arg81His) NC_000011.10:94045743:G:A Identity +NM_001109662.4:c.5050A>G NP_001103132.4:p.Met1684Val NC_000012.12:112239965:T:C p.(Met1684Val) NC_000012.12:112239965:T:C p.(Met1684Val) NC_000012.12:112239965:T:C Identity +NM_020733.2:c.2785A>G NP_065784.1:p.Thr929Ala NC_000003.12:125012793:T:C p.(Thr929Ala) NC_000003.12:125012793:T:C p.(Thr929Ala) NC_000003.12:125012793:T:C Identity +NM_001037335.2:c.2104C>T NP_001032412.2:p.Arg702Trp NC_000020.11:63567253:G:A p.(Arg702Trp) NC_000020.11:63567253:G:A p.(Arg702Trp) NC_000020.11:63567253:G:A Identity +NM_152740.4:c.500G>T NP_689953.1:p.Arg167Leu NC_000007.14:27543084:C:A p.(Arg167Leu) NC_000007.14:27543084:C:A p.(Arg167Leu) NC_000007.14:27543084:C:A Identity +NM_001243198.3:c.899G>A NP_001230127.1:p.Arg300Gln NC_000007.14:75563055:C:T p.(Arg300Gln) NC_000007.14:75563055:C:T p.(Arg300Gln) NC_000007.14:75563055:C:T Identity +NM_001048200.3:c.988T>G NP_001041665.1:p.Leu330Val NC_000011.10:33287401:T:G p.(Leu330Val) NC_000011.10:33287401:T:G p.(Leu330Val) NC_000011.10:33287401:T:G Identity +NM_003609.5:c.388G>A NP_003600.2:p.Glu130Lys NC_000016.10:29994756:C:T p.(Glu130Lys) NC_000016.10:29994756:C:T p.(Glu130Lys) NC_000016.10:29994756:C:T Identity +NM_004304.5:c.3087_3089del NP_004295.2:p.His1030del NC_000002.12:29225543:TGT: p.(His1030del) NC_000002.12:29225543:TGT: p.(His1030del) NC_000002.12:29225543:TGT: Identity +NM_004667.6:c.7334C>G NP_004658.3:p.Pro2445Arg NC_000015.10:28202492:G:C p.(Pro2445Arg) NC_000015.10:28202492:G:C p.(Pro2445Arg) NC_000015.10:28202492:G:C Identity +NM_004667.6:c.5320G>C NP_004658.3:p.Gly1774Arg NC_000015.10:28228361:C:G p.(Gly1774Arg) NC_000015.10:28228361:C:G p.(Gly1774Arg) NC_000015.10:28228361:C:G Identity +NM_006547.3:c.133C>G NP_006538.2:p.Pro45Ala NC_000007.14:23469977:G:C p.(Pro45Ala) NC_000007.14:23469977:G:C p.(Pro45Ala) NC_000007.14:23469977:G:C Identity +NM_001346003.2:c.107A>T NP_001332932.1:p.Asn36Ile NC_000019.10:35741073:T:A p.(Asn36Ile) NC_000019.10:35741073:T:A p.(Asn36Ile) NC_000019.10:35741073:T:A Identity +NM_001385060.1:c.5524C>T NP_001371989.1:p.Pro1842Ser NC_000003.12:151443422:G:A p.(Pro1842Ser) NC_000003.12:151443422:G:A p.(Pro1842Ser) NC_000003.12:151443422:G:A Identity +NM_001102397.3:c.1528T>G NP_001095867.1:p.Ser510Ala NC_000001.11:23310524:A:C p.(Ser510Ala) NC_000001.11:23310524:A:C p.(Ser510Ala) NC_000001.11:23310524:A:C Identity +NM_001330322.2:c.629C>T NP_001317251.1:p.Thr210Ile NC_000017.11:48550781:G:A p.(Thr210Ile) NC_000017.11:48550781:G:A p.(Thr210Ile) NC_000017.11:48550781:G:A Identity +NM_001301228.2:c.160G>A NP_001288157.1:p.Gly54Arg NC_000023.11:150986059:G:A p.(Gly54Arg) NC_000023.11:150986059:G:A p.(Gly54Arg) NC_000023.11:150986059:G:A Identity +NM_080284.3:c.1450A>G NP_525023.2:p.Lys484Glu NC_000017.11:69117942:T:C p.(Lys484Glu) NC_000017.11:69117942:T:C p.(Lys484Glu) NC_000017.11:69117942:T:C Identity +NM_004667.6:c.7531A>G NP_004658.3:p.Thr2511Ala NC_000015.10:28202198:T:C p.(Thr2511Ala) NC_000015.10:28202198:T:C p.(Thr2511Ala) NC_000015.10:28202198:T:C Identity +NM_001127258.3:c.1244T>A NP_001120730.1:p.Leu415His NC_000014.9:99659624:T:A p.(Leu415His) NC_000014.9:99659624:T:A p.(Leu415His) NC_000014.9:99659624:T:A Identity +NM_173588.4:c.3618G>T NP_775859.4:p.Lys1206Asn NC_000011.10:18706108:C:A p.(Lys1206Asn) NC_000011.10:18706108:C:A p.(Lys1206Asn) NC_000011.10:18706108:C:A Identity +NM_005849.4:c.717A>T NP_005840.2:p.Glu239Asp NC_000016.10:21641542:T:A p.(Glu239Asp) NC_000016.10:21641542:T:A p.(Glu239Asp) NC_000016.10:21641542:T:A Identity +NM_001558.4:c.1619G>T NP_001549.2:p.Ser540Ile NC_000011.10:117999522:G:T p.(Ser540Ile) NC_000011.10:117999522:G:T p.(Ser540Ile) NC_000011.10:117999522:G:T Identity +NM_001289905.2:c.1112C>G NP_001276834.1:p.Ala371Gly NC_000022.11:17108432:C:G p.(Ala371Gly) NC_000022.11:17108432:C:G p.(Ala371Gly) NC_000022.11:17108432:C:G Identity +NM_001243198.3:c.1003A>G NP_001230127.1:p.Met335Val NC_000007.14:75562951:T:C p.(Met335Val) NC_000007.14:75562951:T:C p.(Met335Val) NC_000007.14:75562951:T:C Identity +NM_001379352.1:c.386C>T NP_001366281.1:p.Pro129Leu NC_000001.11:146019445:G:A p.(Pro129Leu) NC_000001.11:146019445:G:A p.(Pro129Leu) NC_000001.11:146019445:G:A Identity +NM_002115.3:c.982C>T NP_002106.2:p.Arg328Trp NC_000005.10:176888796:G:A p.(Arg328Trp) NC_000005.10:176888796:G:A p.(Arg328Trp) NC_000005.10:176888796:G:A Identity +NM_001006109.1:c.220C>T NP_001006109.1:p.Arg74Cys NC_000003.12:129288889:C:T p.(Arg74Cys) NC_000003.12:129288889:C:T p.(Arg74Cys) NC_000003.12:129288889:C:T Identity +NM_000201.3:c.1283A>G NP_000192.2:p.Glu428Gly NC_000019.10:10284884:A:G p.(Glu428Gly) NC_000019.10:10284884:A:G p.(Glu428Gly) NC_000019.10:10284884:A:G Identity +NM_001282386.1:c.416A>G NP_001269315.1:p.Tyr139Cys NC_000002.12:208245422:T:C p.(Tyr139Cys) NC_000002.12:208245422:T:C p.(Tyr139Cys) NC_000002.12:208245422:T:C Identity +NM_001366281.1:c.81G>C NP_001353210.1:p.Leu27Phe NC_000003.12:49804290:G:C p.(Leu27Phe) NC_000003.12:49804290:G:C p.(Leu27Phe) NC_000003.12:49804290:G:C Identity +NM_017553.3:c.758A>G NP_060023.1:p.Lys253Arg NC_000015.10:41085483:T:C p.(Lys253Arg) NC_000015.10:41085483:T:C p.(Lys253Arg) NC_000015.10:41085483:T:C Identity +NM_001100176.2:c.2135G>A NP_001093646.1:p.Arg712His NC_000019.10:12763300:C:T p.(Arg712His) NC_000019.10:12763300:C:T p.(Arg712His) NC_000019.10:12763300:C:T Identity +NM_031407.7:c.34C>G NP_113584.3:p.Pro12Ala NC_000023.11:53654073:G:C p.(Pro12Ala) NC_000023.11:53654073:G:C p.(Pro12Ala) NC_000023.11:53654073:G:C Identity +NM_001136020.3:c.1170C>A NP_001129492.1:p.Phe390Leu NC_000007.14:8128032:G:T p.(Phe390Leu) NC_000007.14:8128032:G:T p.(Phe390Leu) NC_000007.14:8128032:G:T Identity +NM_000201.3:c.1223C>T NP_000192.2:p.Thr408Met NC_000019.10:10284824:C:T p.(Thr408Met) NC_000019.10:10284824:C:T p.(Thr408Met) NC_000019.10:10284824:C:T Identity +NM_001190241.2:c.857C>G NP_001177170.1:p.Ser286Cys NC_000003.12:160300929:G:C p.(Ser286Cys) NC_000003.12:160300929:G:C p.(Ser286Cys) NC_000003.12:160300929:G:C Identity +NM_000875.5:c.4057C>T NP_000866.1:p.Arg1353Cys NC_000015.10:98957394:C:T p.(Arg1353Cys) NC_000015.10:98957394:C:T p.(Arg1353Cys) NC_000015.10:98957394:C:T Identity +NM_004304.5:c.1244C>G NP_004295.2:p.Ser415Cys NC_000002.12:29383769:G:C p.(Ser415Cys) NC_000002.12:29383769:G:C p.(Ser415Cys) NC_000002.12:29383769:G:C Identity +NM_001031853.5:c.1298A>C NP_001027024.3:p.Tyr433Ser NC_000011.10:15225814:A:C p.(Tyr433Ser) NC_000011.10:15225814:A:C p.(Tyr433Ser) NC_000011.10:15225814:A:C Identity +NM_001330417.2:c.296A>G NP_001317346.2:p.His99Arg NC_000017.11:61925096:T:C p.(His99Arg) NC_000017.11:61925096:T:C p.(His99Arg) NC_000017.11:61925096:T:C Identity +NM_001134779.2:c.2356G>A NP_001128251.1:p.Val786Ile NC_000005.10:62537274:G:A p.(Val786Ile) NC_000005.10:62537274:G:A p.(Val786Ile) NC_000005.10:62537274:G:A Identity +NM_001206567.2:c.835G>A NP_001193496.1:p.Glu279Lys NC_000001.11:159020370:G:A p.(Glu279Lys) NC_000001.11:159020370:G:A p.(Glu279Lys) NC_000001.11:159020370:G:A Identity +NM_170743.4:c.877T>G NP_734464.1:p.Cys293Gly NC_000001.11:24157815:A:C p.(Cys293Gly) NC_000001.11:24157815:A:C p.(Cys293Gly) NC_000001.11:24157815:A:C Identity +NM_001385060.1:c.2452G>T NP_001371989.1:p.Ala818Ser NC_000003.12:151447528:C:A p.(Ala818Ser) NC_000003.12:151447528:C:A p.(Ala818Ser) NC_000003.12:151447528:C:A Identity +NM_178229.5:c.1957G>A NP_839943.3:p.Ala653Thr NC_000001.11:156548616:C:T p.(Ala653Thr) NC_000001.11:156548616:C:T p.(Ala653Thr) NC_000001.11:156548616:C:T Identity +NM_004304.5:c.2991G>A NP_004295.2:p.Met997Ile NC_000002.12:29226997:C:T p.(Met997Ile) NC_000002.12:29226997:C:T p.(Met997Ile) NC_000002.12:29226997:C:T Identity +NM_001146006.2:c.1048G>A NP_001139478.1:p.Asp350Asn NC_000016.10:1791483:C:T p.(Asp350Asn) NC_000016.10:1791483:C:T p.(Asp350Asn) NC_000016.10:1791483:C:T Identity +NM_001164586.2:c.9704A>C NP_001158058.1:p.Tyr3235Ser NC_000001.11:201217394:A:C p.(Tyr3235Ser) NC_000001.11:201217394:A:C p.(Tyr3235Ser) NC_000001.11:201217394:A:C Identity +NM_001164586.2:c.8251A>G NP_001158058.1:p.Arg2751Gly NC_000001.11:201213143:A:G p.(Arg2751Gly) NC_000001.11:201213143:A:G p.(Arg2751Gly) NC_000001.11:201213143:A:G Identity +NM_000417.3:c.328C>A NP_000408.1:p.Gln110Lys NC_000010.11:6024282:G:T p.(Gln110Lys) NC_000010.11:6024282:G:T p.(Gln110Lys) NC_000010.11:6024282:G:T Identity +NM_019112.4:c.5867T>C NP_061985.2:p.Met1956Thr NC_000019.10:1063778:T:C p.(Met1956Thr) NC_000019.10:1063778:T:C p.(Met1956Thr) NC_000019.10:1063778:T:C Identity +NM_001014794.3:c.869A>C NP_001014794.1:p.Asp290Ala NC_000011.10:6609735:A:C p.(Asp290Ala) NC_000011.10:6609735:A:C p.(Asp290Ala) NC_000011.10:6609735:A:C Identity +NM_001291860.2:c.9658G>T NP_001278789.1:p.Ala3220Ser NC_000001.11:21839875:C:A p.(Ala3220Ser) NC_000001.11:21839875:C:A p.(Ala3220Ser) NC_000001.11:21839875:C:A Identity +NM_000870.7:c.787A>G NP_000861.1:p.Ile263Val NC_000005.10:148509744:T:C p.(Ile263Val) NC_000005.10:148509744:T:C p.(Ile263Val) NC_000005.10:148509744:T:C Identity +NM_031407.7:c.10510C>T NP_113584.3:p.Pro3504Ser NC_000023.11:53547798:G:A p.(Pro3504Ser) NC_000023.11:53547798:G:A p.(Pro3504Ser) NC_000023.11:53547798:G:A Identity +NM_002208.5:c.98G>T NP_002199.3:p.Gly33Val NC_000017.11:3777596:C:A p.(Gly33Val) NC_000017.11:3777596:C:A p.(Gly33Val) NC_000017.11:3777596:C:A Identity +NM_005539.5:c.20C>T NP_005530.3:p.Ala7Val NC_000010.11:132538115:C:T p.(Ala7Val) NC_000010.11:132538115:C:T p.(Ala7Val) NC_000010.11:132538115:C:T Identity +NM_001321329.2:c.29G>A NP_001308258.1:p.Gly10Glu NC_000002.12:118096584:G:A p.(Gly10Glu) NC_000002.12:118096584:G:A p.(Gly10Glu) NC_000002.12:118096584:G:A Identity +NM_032594.4:c.1610C>A NP_115983.3:p.Ser537Tyr NC_000014.9:35535861:C:A p.(Ser537Tyr) NC_000014.9:35535861:C:A p.(Ser537Tyr) NC_000014.9:35535861:C:A Identity +NM_001080453.3:c.747T>A NP_001073922.2:p.Phe249Leu NC_000007.14:1499569:A:T p.(Phe249Leu) NC_000007.14:1499569:A:T p.(Phe249Leu) NC_000007.14:1499569:A:T Identity +NM_001080453.3:c.5624T>C NP_001073922.2:p.Leu1875Pro NC_000007.14:1474716:A:G p.(Leu1875Pro) NC_000007.14:1474716:A:G p.(Leu1875Pro) NC_000007.14:1474716:A:G Identity +NM_001007237.3:c.3449A>G NP_001007238.1:p.Lys1150Arg NC_000001.11:116577447:T:C p.(Lys1150Arg) NC_000001.11:116577447:T:C p.(Lys1150Arg) NC_000001.11:116577447:T:C Identity +NM_001242636.2:c.695T>C NP_001229565.1:p.Met232Thr NC_000005.10:55890114:T:C p.(Met232Thr) NC_000005.10:55890114:T:C p.(Met232Thr) NC_000005.10:55890114:T:C Identity +NM_203434.3:c.559C>G NP_982258.2:p.Leu187Val NC_000009.12:129177493:G:C p.(Leu187Val) NC_000009.12:129177493:G:C p.(Leu187Val) NC_000009.12:129177493:G:C Identity +NM_001206567.2:c.1013C>T NP_001193496.1:p.Pro338Leu NC_000001.11:159032542:C:T p.(Pro338Leu) NC_000001.11:159032542:C:T p.(Pro338Leu) NC_000001.11:159032542:C:T Identity +NM_001007245.3:c.833A>G NP_001007246.1:p.Asp278Gly NC_000007.14:112462304:A:G p.(Asp278Gly) NC_000007.14:112462304:A:G p.(Asp278Gly) NC_000007.14:112462304:A:G Identity +NM_001166434.3:c.1753G>A NP_001159906.1:p.Gly585Ser NC_000003.12:52789711:G:A p.(Gly585Ser) NC_000003.12:52789711:G:A p.(Gly585Ser) NC_000003.12:52789711:G:A Identity +NM_178229.5:c.876C>A NP_839943.3:p.Asn292Lys NC_000001.11:156562587:G:T p.(Asn292Lys) NC_000001.11:156562587:G:T p.(Asn292Lys) NC_000001.11:156562587:G:T Identity +NM_001170738.2:c.2989C>G NP_001164209.1:p.Gln997Glu NC_000012.12:169029:C:G p.(Gln997Glu) NC_000012.12:169029:C:G p.(Gln997Glu) NC_000012.12:169029:C:G Identity +NM_001098579.3:c.1975C>T NP_001092049.2:p.Arg659Cys NC_000011.10:10600935:G:A p.(Arg659Cys) NC_000011.10:10600935:G:A p.(Arg659Cys) NC_000011.10:10600935:G:A Identity +NM_001197122.2:c.1015G>A NP_001184051.1:p.Gly339Arg NC_000019.10:49660811:C:T p.(Gly339Arg) NC_000019.10:49660811:C:T p.(Gly339Arg) NC_000019.10:49660811:C:T Identity +NM_014439.4:c.154G>A NP_055254.2:p.Val52Met NC_000002.12:112917136:G:A p.(Val52Met) NC_000002.12:112917136:G:A p.(Val52Met) NC_000002.12:112917136:G:A Identity +NM_001410891.1:c.1385G>A NP_001397820.1:p.Arg462His NC_000001.11:166921148:C:T p.(Arg462His) NC_000001.11:166921148:C:T p.(Arg462His) NC_000001.11:166921148:C:T Identity +NM_001130445.3:c.662G>A NP_001123917.1:p.Ser221Asn NC_000002.12:181900853:G:A p.(Ser221Asn) NC_000002.12:181900853:G:A p.(Ser221Asn) NC_000002.12:181900853:G:A Identity +NM_001322194.2:c.872C>G NP_001309123.1:p.Thr291Ser NC_000009.12:5054819:C:G p.(Thr291Ser) NC_000009.12:5054819:C:G p.(Thr291Ser) NC_000009.12:5054819:C:G Identity +NM_024335.3:c.493C>A NP_077311.2:p.Leu165Ile NC_000016.10:55327664:C:A p.(Leu165Ile) NC_000016.10:55327664:C:A p.(Leu165Ile) NC_000016.10:55327664:C:A Identity +NM_018463.4:c.1031T>G NP_060933.3:p.Phe344Cys NC_000012.12:2822875:T:G p.(Phe344Cys) NC_000012.12:2822875:T:G p.(Phe344Cys) NC_000012.12:2822875:T:G Identity +NM_001004439.2:c.2423G>T NP_001004439.1:p.Arg808Met NC_000015.10:68320377:C:A p.(Arg808Met) NC_000015.10:68320377:C:A p.(Arg808Met) NC_000015.10:68320377:C:A Identity +NM_001321329.2:c.100G>A NP_001308258.1:p.Val34Met NC_000002.12:118096655:G:A p.(Val34Met) NC_000002.12:118096655:G:A p.(Val34Met) NC_000002.12:118096655:G:A Identity +NM_001080453.3:c.4126G>A NP_001073922.2:p.Val1376Met NC_000007.14:1479632:C:T p.(Val1376Met) NC_000007.14:1479632:C:T p.(Val1376Met) NC_000007.14:1479632:C:T Identity +NM_001190995.2:c.842C>A NP_001177924.1:p.Ser281Tyr NC_000012.12:30663625:G:T p.(Ser281Tyr) NC_000012.12:30663625:G:T p.(Ser281Tyr) NC_000012.12:30663625:G:T Identity +NM_001001851.3:c.1306A>T NP_001001851.1:p.Ile436Phe NC_000010.11:7579866:T:A p.(Ile436Phe) NC_000010.11:7579866:T:A p.(Ile436Phe) NC_000010.11:7579866:T:A Identity +NM_032306.4:c.409C>G NP_115682.1:p.Leu137Val NC_000019.10:6374494:C:G p.(Leu137Val) NC_000019.10:6374494:C:G p.(Leu137Val) NC_000019.10:6374494:C:G Identity +NM_001414174.1:c.7085A>G NP_001401103.1:p.His2362Arg NC_000012.12:26419070:T:C p.(His2362Arg) NC_000012.12:26419070:T:C p.(His2362Arg) NC_000012.12:26419070:T:C Identity +NM_001002032.3:c.263C>T NP_001002032.1:p.Ser88Phe NC_000017.11:75147589:G:A p.(Ser88Phe) NC_000017.11:75147589:G:A p.(Ser88Phe) NC_000017.11:75147589:G:A Identity +NM_001256468.2:c.1430A>T NP_001243397.1:p.His477Leu NC_000010.11:74975766:A:T p.(His477Leu) NC_000010.11:74975766:A:T p.(His477Leu) NC_000010.11:74975766:A:T Identity +NM_001025242.2:c.373G>A NP_001020413.1:p.Ala125Thr NC_000023.11:154019259:C:T p.(Ala125Thr) NC_000023.11:154019259:C:T p.(Ala125Thr) NC_000023.11:154019259:C:T Identity +NM_001143779.2:c.1677A>T NP_001137251.1:p.Gln559His NC_000012.12:110205474:A:T p.(Gln559His) NC_000012.12:110205474:A:T p.(Gln559His) NC_000012.12:110205474:A:T Identity +NM_001257967.3:c.2019T>A NP_001244896.2:p.Asp673Glu NC_000007.14:31643388:T:A p.(Asp673Glu) NC_000007.14:31643388:T:A p.(Asp673Glu) NC_000007.14:31643388:T:A Identity +NM_001348182.2:c.25A>G NP_001335111.1:p.Met9Val NC_000002.12:24328057:T:C p.(Met9Val) NC_000002.12:24328057:T:C p.(Met9Val) NC_000002.12:24328057:T:C Identity +NM_001077445.3:c.1781C>T NP_001070913.1:p.Pro594Leu NC_000023.11:47058385:C:T p.(Pro594Leu) NC_000023.11:47058385:C:T p.(Pro594Leu) NC_000023.11:47058385:C:T Identity +NM_001320923.2:c.2062A>G NP_001307852.1:p.Thr688Ala NC_000001.11:64845565:T:C p.(Thr688Ala) NC_000001.11:64845565:T:C p.(Thr688Ala) NC_000001.11:64845565:T:C Identity +NM_001081461.2:c.761C>T NP_001074930.1:p.Pro254Leu NC_000017.11:76723815:G:A p.(Pro254Leu) NC_000017.11:76723815:G:A p.(Pro254Leu) NC_000017.11:76723815:G:A Identity +NM_001378969.1:c.320G>A NP_001365898.1:p.Arg107His NC_000001.11:111982406:C:T p.(Arg107His) NC_000001.11:111982406:C:T p.(Arg107His) NC_000001.11:111982406:C:T Identity +NM_014432.4:c.131C>T NP_055247.4:p.Thr44Ile NC_000006.12:137017060:G:A p.(Thr44Ile) NC_000006.12:137017060:G:A p.(Thr44Ile) NC_000006.12:137017060:G:A Identity +NM_001278632.1:c.991G>A NP_001265561.1:p.Ala331Thr NC_000005.10:1878537:C:T p.(Ala331Thr) NC_000005.10:1878537:C:T p.(Ala331Thr) NC_000005.10:1878537:C:T Identity +NM_001130136.1:c.514G>T NP_001123608.1:p.Ala172Ser NC_000015.10:74133267:G:T p.(Ala172Ser) NC_000015.10:74133267:G:T p.(Ala172Ser) NC_000015.10:74133267:G:T Identity +NM_002205.5:c.1793G>A NP_002196.4:p.Arg598Gln NC_000012.12:54403307:C:T p.(Arg598Gln) NC_000012.12:54403307:C:T p.(Arg598Gln) NC_000012.12:54403307:C:T Identity +NM_181712.5:c.179G>A NP_859063.3:p.Arg60Lys NC_000001.11:62274924:C:T p.(Arg60Lys) NC_000001.11:62274924:C:T p.(Arg60Lys) NC_000001.11:62274924:C:T Identity +NM_030929.5:c.95C>T NP_112191.2:p.Pro32Leu NC_000010.11:101062686:C:T p.(Pro32Leu) NC_000010.11:101062686:C:T p.(Pro32Leu) NC_000010.11:101062686:C:T Identity +NM_004700.4:c.640A>G NP_004691.2:p.Met214Val NC_000001.11:40818611:A:G p.(Met214Val) NC_000001.11:40818611:A:G p.(Met214Val) NC_000001.11:40818611:A:G Identity +NM_001366122.1:c.4796C>T NP_001353051.1:p.Pro1599Leu NC_000007.14:128877133:G:A p.(Pro1599Leu) NC_000007.14:128877133:G:A p.(Pro1599Leu) NC_000007.14:128877133:G:A Identity +NM_001282684.2:c.893C>T NP_001269613.2:p.Ala298Val NC_000022.11:37062541:C:T p.(Ala298Val) NC_000022.11:37062541:C:T p.(Ala298Val) NC_000022.11:37062541:C:T Identity +NM_015353.3:c.9A>C NP_056168.1:p.Glu3Asp NC_000017.11:75047258:A:C p.(Glu3Asp) NC_000017.11:75047258:A:C p.(Glu3Asp) NC_000017.11:75047258:A:C Identity +NM_019099.5:c.646C>G NP_061972.1:p.Arg216Gly NC_000001.11:111727215:G:C p.(Arg216Gly) NC_000001.11:111727215:G:C p.(Arg216Gly) NC_000001.11:111727215:G:C Identity +NM_198510.3:c.2779C>T NP_940912.1:p.Leu927Phe NC_000023.11:54757294:G:A p.(Leu927Phe) NC_000023.11:54757294:G:A p.(Leu927Phe) NC_000023.11:54757294:G:A Identity +NM_001414174.1:c.5549G>C NP_001401103.1:p.Arg1850Thr NC_000012.12:26487069:C:G p.(Arg1850Thr) NC_000012.12:26487069:C:G p.(Arg1850Thr) NC_000012.12:26487069:C:G Identity +NM_005549.2:c.743A>G NP_005540.1:p.Lys248Arg NC_000001.11:110518044:T:C p.(Lys248Arg) NC_000001.11:110518044:T:C p.(Lys248Arg) NC_000001.11:110518044:T:C Identity +NM_031886.3:c.421G>A NP_114092.2:p.Ala141Thr NC_000019.10:49072164:C:T p.(Ala141Thr) NC_000019.10:49072164:C:T p.(Ala141Thr) NC_000019.10:49072164:C:T Identity +NM_024874.5:c.1949G>A NP_079150.3:p.Ser650Asn NC_000001.11:35451740:C:T p.(Ser650Asn) NC_000001.11:35451740:C:T p.(Ser650Asn) NC_000001.11:35451740:C:T Identity +NM_019590.5:c.4814A>G NP_062536.2:p.Tyr1605Cys NC_000010.11:24544083:A:G p.(Tyr1605Cys) NC_000010.11:24544083:A:G p.(Tyr1605Cys) NC_000010.11:24544083:A:G Identity +NM_001145159.3:c.893C>T NP_001138631.1:p.Ala298Val NC_000008.11:28793887:G:A p.(Ala298Val) NC_000008.11:28793887:G:A p.(Ala298Val) NC_000008.11:28793887:G:A Identity +NM_018085.5:c.1178C>A NP_060555.2:p.Thr393Lys NC_000001.11:201857150:C:A p.(Thr393Lys) NC_000001.11:201857150:C:A p.(Thr393Lys) NC_000001.11:201857150:C:A Identity +NM_004700.4:c.1346C>T NP_004691.2:p.Thr449Met NC_000001.11:40831136:C:T p.(Thr449Met) NC_000001.11:40831136:C:T p.(Thr449Met) NC_000001.11:40831136:C:T Identity +NM_198353.3:c.1213G>A NP_938167.1:p.Asp405Asn NC_000004.12:44174998:C:T p.(Asp405Asn) NC_000004.12:44174998:C:T p.(Asp405Asn) NC_000004.12:44174998:C:T Identity +NM_198471.3:c.1175G>A NP_940873.2:p.Gly392Glu NC_000019.10:8334651:C:T p.(Gly392Glu) NC_000019.10:8334651:C:T p.(Gly392Glu) NC_000019.10:8334651:C:T Identity +NM_001014380.3:c.76A>G NP_001014402.1:p.Met26Val NC_000013.11:30283701:T:C p.(Met26Val) NC_000013.11:30283701:T:C p.(Met26Val) NC_000013.11:30283701:T:C Identity +NM_005886.3:c.1111G>A NP_005877.2:p.Glu371Lys NC_000016.10:57753452:G:A p.(Glu371Lys) NC_000016.10:57753452:G:A p.(Glu371Lys) NC_000016.10:57753452:G:A Identity +NM_001319303.2:c.440G>C NP_001306232.1:p.Arg147Pro NC_000010.11:101064858:G:C p.(Arg147Pro) NC_000010.11:101064858:G:C p.(Arg147Pro) NC_000010.11:101064858:G:C Identity +NM_001017999.3:c.535G>C NP_001017999.1:p.Glu179Gln NC_000001.11:15056180:G:C p.(Glu179Gln) NC_000001.11:15056180:G:C p.(Glu179Gln) NC_000001.11:15056180:G:C Identity +NM_001320941.2:c.466G>A NP_001307870.2:p.Glu156Lys NC_000015.10:78478316:G:A p.(Glu156Lys) NC_000015.10:78478316:G:A p.(Glu156Lys) NC_000015.10:78478316:G:A Identity +NM_001320941.2:c.1288A>G NP_001307870.2:p.Ile430Val NC_000015.10:78488732:A:G p.(Ile430Val) NC_000015.10:78488732:A:G p.(Ile430Val) NC_000015.10:78488732:A:G Identity +NM_001353765.2:c.532A>C NP_001340694.1:p.Ile178Leu NC_000002.12:29213990:T:G p.(Ile178Leu) NC_000002.12:29213990:T:G p.(Ile178Leu) NC_000002.12:29213990:T:G Identity +NM_003749.3:c.3136C>T NP_003740.2:p.Pro1046Ser NC_000013.11:109782917:G:A p.(Pro1046Ser) NC_000013.11:109782917:G:A p.(Pro1046Ser) NC_000013.11:109782917:G:A Identity +NM_000221.3:c.431C>T NP_000212.1:p.Ser144Leu NC_000002.12:27097515:C:T p.(Ser144Leu) NC_000002.12:27097515:C:T p.(Ser144Leu) NC_000002.12:27097515:C:T Identity +NM_001305002.2:c.1045G>A NP_001291931.1:p.Val349Met NC_000016.10:47218936:C:T p.(Val349Met) NC_000016.10:47218936:C:T p.(Val349Met) NC_000016.10:47218936:C:T Identity +NM_001365951.3:c.5345T>C NP_001352880.1:p.Leu1782Pro NC_000001.11:10375309:T:C p.(Leu1782Pro) NC_000001.11:10375309:T:C p.(Leu1782Pro) NC_000001.11:10375309:T:C Identity +NM_001099293.3:c.2954A>G NP_001092763.1:p.Gln985Arg NC_000005.10:155016812:A:G p.(Gln985Arg) NC_000005.10:155016812:A:G p.(Gln985Arg) NC_000005.10:155016812:A:G Identity +NM_015634.4:c.1465G>T NP_056449.1:p.Val489Phe NC_000010.11:69016014:G:T p.(Val489Phe) NC_000010.11:69016014:G:T p.(Val489Phe) NC_000010.11:69016014:G:T Identity +NM_000888.5:c.2269G>A NP_000879.2:p.Gly757Arg NC_000002.12:160101833:C:T p.(Gly757Arg) NC_000002.12:160101833:C:T p.(Gly757Arg) NC_000002.12:160101833:C:T Identity +NM_001414174.1:c.1114A>G NP_001401103.1:p.Thr372Ala NC_000012.12:26686511:T:C p.(Thr372Ala) NC_000012.12:26686511:T:C p.(Thr372Ala) NC_000012.12:26686511:T:C Identity +NM_001001132.2:c.2468C>G NP_001001132.1:p.Pro823Arg NC_000021.9:33811122:C:G p.(Pro823Arg) NC_000021.9:33811122:C:G p.(Pro823Arg) NC_000021.9:33811122:C:G Identity +NM_173605.2:c.350G>A NP_775876.1:p.Arg117Gln NC_000013.11:50015842:G:A p.(Arg117Gln) NC_000013.11:50015842:G:A p.(Arg117Gln) NC_000013.11:50015842:G:A Identity +NM_152365.3:c.640G>A NP_689578.2:p.Glu214Lys NC_000001.11:26951740:C:T p.(Glu214Lys) NC_000001.11:26951740:C:T p.(Glu214Lys) NC_000001.11:26951740:C:T Identity +NM_001256405.2:c.793C>G NP_001243334.1:p.Pro265Ala NC_000011.10:67250139:C:G p.(Pro265Ala) NC_000011.10:67250139:C:G p.(Pro265Ala) NC_000011.10:67250139:C:G Identity +NM_001365951.3:c.2468C>G NP_001352880.1:p.Thr823Arg NC_000001.11:10323992:C:G p.(Thr823Arg) NC_000001.11:10323992:C:G p.(Thr823Arg) NC_000001.11:10323992:C:G Identity +NM_001365951.3:c.5267A>G NP_001352880.1:p.Glu1756Gly NC_000001.11:10375023:A:G p.(Glu1756Gly) NC_000001.11:10375023:A:G p.(Glu1756Gly) NC_000001.11:10375023:A:G Identity +NM_001365951.3:c.3902A>T NP_001352880.1:p.Glu1301Val NC_000001.11:10348685:A:T p.(Glu1301Val) NC_000001.11:10348685:A:T p.(Glu1301Val) NC_000001.11:10348685:A:T Identity +NM_015656.2:c.3604G>T NP_056471.1:p.Ala1202Ser NC_000014.9:104176391:G:T p.(Ala1202Ser) NC_000014.9:104176391:G:T p.(Ala1202Ser) NC_000014.9:104176391:G:T Identity +NM_005354.6:c.59G>T NP_005345.3:p.Gly20Val NC_000019.10:18281425:C:A p.(Gly20Val) NC_000019.10:18281425:C:A p.(Gly20Val) NC_000019.10:18281425:C:A Identity +NM_001394962.1:c.3040A>G NP_001381891.1:p.Arg1014Gly NC_000023.11:119087661:T:C p.(Arg1014Gly) NC_000023.11:119087661:T:C p.(Arg1014Gly) NC_000023.11:119087661:T:C Identity +NM_001136191.3:c.1655C>T NP_001129663.1:p.Thr552Met NC_000019.10:11176682:G:A p.(Thr552Met) NC_000019.10:11176682:G:A p.(Thr552Met) NC_000019.10:11176682:G:A Identity +NM_001288985.2:c.4634A>C NP_001275914.1:p.Tyr1545Ser NC_000017.11:68869776:T:G p.(Tyr1545Ser) NC_000017.11:68869776:T:G p.(Tyr1545Ser) NC_000017.11:68869776:T:G Identity +NM_015202.5:c.3208G>A NP_056017.4:p.Val1070Ile NC_000016.10:27750167:G:A p.(Val1070Ile) NC_000016.10:27750167:G:A p.(Val1070Ile) NC_000016.10:27750167:G:A Identity +NM_001330359.2:c.1009C>T NP_001317288.1:p.Arg337Trp NC_000011.10:106053442:G:A p.(Arg337Trp) NC_000011.10:106053442:G:A p.(Arg337Trp) NC_000011.10:106053442:G:A Identity +NM_001122819.3:c.1269C>A NP_001116291.1:p.Asp423Glu NC_000001.11:20690299:G:T p.(Asp423Glu) NC_000001.11:20690299:G:T p.(Asp423Glu) NC_000001.11:20690299:G:T Identity +NM_001365951.3:c.2986G>T NP_001352880.1:p.Val996Phe NC_000001.11:10334580:G:T p.(Val996Phe) NC_000001.11:10334580:G:T p.(Val996Phe) NC_000001.11:10334580:G:T Identity +NM_001365951.3:c.2513A>G NP_001352880.1:p.His838Arg NC_000001.11:10324037:A:G p.(His838Arg) NC_000001.11:10324037:A:G p.(His838Arg) NC_000001.11:10324037:A:G Identity +NM_194313.4:c.1661C>G NP_919289.2:p.Thr554Ser NC_000009.12:34257945:G:C p.(Thr554Ser) NC_000009.12:34257945:G:C p.(Thr554Ser) NC_000009.12:34257945:G:C Identity +NM_052947.4:c.2147G>T NP_443179.3:p.Gly716Val NC_000018.10:58538039:C:A p.(Gly716Val) NC_000018.10:58538039:C:A p.(Gly716Val) NC_000018.10:58538039:C:A Identity +NM_018012.4:c.3191G>C NP_060482.2:p.Gly1064Ala NC_000001.11:245686173:G:C p.(Gly1064Ala) NC_000001.11:245686173:G:C p.(Gly1064Ala) NC_000001.11:245686173:G:C Identity +NM_001271927.3:c.854G>A NP_001258856.1:p.Arg285His NC_000009.12:83903663:C:T p.(Arg285His) NC_000009.12:83903663:C:T p.(Arg285His) NC_000009.12:83903663:C:T Identity +NM_001278919.2:c.2587C>T NP_001265848.1:p.Pro863Ser NC_000017.11:63545611:C:T p.(Pro863Ser) NC_000017.11:63545611:C:T p.(Pro863Ser) NC_000017.11:63545611:C:T Identity +NM_014591.5:c.17G>A NP_055406.2:p.Arg6His NC_000010.11:101843551:C:T p.(Arg6His) NC_000010.11:101843551:C:T p.(Arg6His) NC_000010.11:101843551:C:T Identity +NM_031460.4:c.917G>A NP_113648.2:p.Gly306Glu NC_000006.12:39299508:C:T p.(Gly306Glu) NC_000006.12:39299508:C:T p.(Gly306Glu) NC_000006.12:39299508:C:T Identity +NM_001378454.1:c.3122A>G NP_001365383.1:p.Glu1041Gly NC_000002.12:73449648:A:G p.(Glu1041Gly) NC_000002.12:73449648:A:G p.(Glu1041Gly) NC_000002.12:73449648:A:G Identity +NM_001129994.2:c.454C>A NP_001123466.1:p.Arg152Ser NC_000019.10:33811312:C:A p.(Arg152Ser) NC_000019.10:33811312:C:A p.(Arg152Ser) NC_000019.10:33811312:C:A Identity +NM_001005366.2:c.2236A>G NP_001005366.1:p.Arg746Gly NC_000012.12:121444133:T:C p.(Arg746Gly) NC_000012.12:121444133:T:C p.(Arg746Gly) NC_000012.12:121444133:T:C Identity +NM_001291415.2:c.2592T>G NP_001278344.1:p.Asp864Glu NC_000023.11:45070090:T:G p.(Asp864Glu) NC_000023.11:45070090:T:G p.(Asp864Glu) NC_000023.11:45070090:T:G Identity +NM_007035.4:c.589C>G NP_008966.1:p.Leu197Val NC_000012.12:91055692:G:C p.(Leu197Val) NC_000012.12:91055692:G:C p.(Leu197Val) NC_000012.12:91055692:G:C Identity +NM_001100590.2:c.3422T>C NP_001094060.1:p.Val1141Ala NC_000004.12:6863803:T:C p.(Val1141Ala) NC_000004.12:6863803:T:C p.(Val1141Ala) NC_000004.12:6863803:T:C Identity +NM_001098500.3:c.1229A>G NP_001091970.1:p.Tyr410Cys NC_000010.11:24473849:A:G p.(Tyr410Cys) NC_000010.11:24473849:A:G p.(Tyr410Cys) NC_000010.11:24473849:A:G Identity +NM_001164665.2:c.5498T>C NP_001158137.1:p.Ile1833Thr NC_000007.14:138840232:A:G p.(Ile1833Thr) NC_000007.14:138840232:A:G p.(Ile1833Thr) NC_000007.14:138840232:A:G Identity +NM_020950.2:c.3202A>G NP_066001.1:p.Asn1068Asp NC_000001.11:180944430:A:G p.(Asn1068Asp) NC_000001.11:180944430:A:G p.(Asn1068Asp) NC_000001.11:180944430:A:G Identity +NM_001122819.3:c.2059C>T NP_001116291.1:p.Arg687Trp NC_000001.11:20684980:G:A p.(Arg687Trp) NC_000001.11:20684980:G:A p.(Arg687Trp) NC_000001.11:20684980:G:A Identity +NM_031217.4:c.1616A>G NP_112494.3:p.His539Arg NC_000011.10:28062490:T:C p.(His539Arg) NC_000011.10:28062490:T:C p.(His539Arg) NC_000011.10:28062490:T:C Identity +NM_153209.4:c.2590G>A NP_694941.2:p.Gly864Ser NC_000017.11:74354442:G:A p.(Gly864Ser) NC_000017.11:74354442:G:A p.(Gly864Ser) NC_000017.11:74354442:G:A Identity +NM_018012.4:c.6023G>A NP_060482.2:p.Ser2008Asn NC_000001.11:245698303:G:A p.(Ser2008Asn) NC_000001.11:245698303:G:A p.(Ser2008Asn) NC_000001.11:245698303:G:A Identity +NM_175737.4:c.2320G>C NP_783864.1:p.Glu774Gln NC_000004.12:39447045:G:C p.(Glu774Gln) NC_000004.12:39447045:G:C p.(Glu774Gln) NC_000004.12:39447045:G:C Identity +NM_001289034.2:c.959G>A NP_001275963.1:p.Arg320Gln NC_000006.12:43070432:G:A p.(Arg320Gln) NC_000006.12:43070432:G:A p.(Arg320Gln) NC_000006.12:43070432:G:A Identity +NM_001134775.2:c.379G>A NP_001128247.1:p.Val127Met NC_000011.10:66261891:G:A p.(Val127Met) NC_000011.10:66261891:G:A p.(Val127Met) NC_000011.10:66261891:G:A Identity +NM_052920.2:c.980C>A NP_443152.1:p.Ala327Glu NC_000002.12:23684437:C:A p.(Ala327Glu) NC_000002.12:23684437:C:A p.(Ala327Glu) NC_000002.12:23684437:C:A Identity +NM_001159296.2:c.136A>G NP_001152768.1:p.Met46Val NC_000023.11:56265233:A:G p.(Met46Val) NC_000023.11:56265233:A:G p.(Met46Val) NC_000023.11:56265233:A:G Identity +NM_198317.3:c.457G>T NP_938073.1:p.Ala153Ser NC_000001.11:961717:G:T p.(Ala153Ser) NC_000001.11:961717:G:T p.(Ala153Ser) NC_000001.11:961717:G:T Identity +NM_022480.4:c.706G>A NP_071925.2:p.Val236Met NC_000015.10:85769104:C:T p.(Val236Met) NC_000015.10:85769104:C:T p.(Val236Met) NC_000015.10:85769104:C:T Identity +NM_014727.3:c.6373G>A NP_055542.1:p.Gly2125Arg NC_000019.10:35732921:G:A p.(Gly2125Arg) NC_000019.10:35732921:G:A p.(Gly2125Arg) NC_000019.10:35732921:G:A Identity +NM_170606.3:c.11632A>G NP_733751.2:p.Met3878Val NC_000007.14:152158900:T:C p.(Met3878Val) NC_000007.14:152158900:T:C p.(Met3878Val) NC_000007.14:152158900:T:C Identity +NM_000893.4:c.373A>G NP_000884.1:p.Thr125Ala NC_000003.12:186722502:A:G p.(Thr125Ala) NC_000003.12:186722502:A:G p.(Thr125Ala) NC_000003.12:186722502:A:G Identity +NM_001303451.2:c.989C>T NP_001290380.1:p.Pro330Leu NC_000016.10:84657795:C:T p.(Pro330Leu) NC_000016.10:84657795:C:T p.(Pro330Leu) NC_000016.10:84657795:C:T Identity +NM_001007075.2:c.1747G>C NP_001007076.1:p.Asp583His NC_000004.12:39113077:G:C p.(Asp583His) NC_000004.12:39113077:G:C p.(Asp583His) NC_000004.12:39113077:G:C Identity +NM_023008.5:c.1712G>A NP_075384.4:p.Arg571Gln NC_000019.10:10555155:C:T p.(Arg571Gln) NC_000019.10:10555155:C:T p.(Arg571Gln) NC_000019.10:10555155:C:T Identity +NM_006121.4:c.253G>A NP_006112.3:p.Gly85Arg NC_000012.12:52680095:C:T p.(Gly85Arg) NC_000012.12:52680095:C:T p.(Gly85Arg) NC_000012.12:52680095:C:T Identity +NM_001039548.3:c.1084C>G NP_001034637.2:p.His362Asp NC_000011.10:75426620:G:C p.(His362Asp) NC_000011.10:75426620:G:C p.(His362Asp) NC_000011.10:75426620:G:C Identity +NM_001081675.3:c.403A>C NP_001075144.2:p.Asn135His NC_000008.11:123652523:T:G p.(Asn135His) NC_000008.11:123652523:T:G p.(Asn135His) NC_000008.11:123652523:T:G Identity +NM_001007075.2:c.1235G>A NP_001007076.1:p.Arg412Gln NC_000004.12:39096812:G:A p.(Arg412Gln) NC_000004.12:39096812:G:A p.(Arg412Gln) NC_000004.12:39096812:G:A Identity +NM_001197104.2:c.7096G>A NP_001184033.1:p.Glu2366Lys NC_000011.10:118502987:G:A p.(Glu2366Lys) NC_000011.10:118502987:G:A p.(Glu2366Lys) NC_000011.10:118502987:G:A Identity +NM_170606.3:c.1912T>G NP_733751.2:p.Cys638Gly NC_000007.14:152248521:A:C p.(Cys638Gly) NC_000007.14:152248521:A:C p.(Cys638Gly) NC_000007.14:152248521:A:C Identity +NM_001077500.2:c.481C>G NP_001070968.1:p.Arg161Gly NC_000019.10:51015944:G:C p.(Arg161Gly) NC_000019.10:51015944:G:C p.(Arg161Gly) NC_000019.10:51015944:G:C Identity +NM_001253725.2:c.380G>A NP_001240654.1:p.Cys127Tyr NC_000016.10:2966342:G:A p.(Cys127Tyr) NC_000016.10:2966342:G:A p.(Cys127Tyr) NC_000016.10:2966342:G:A Identity +NM_001013406.2:c.416T>C NP_001013424.1:p.Met139Thr NC_000007.14:92236481:A:G p.(Met139Thr) NC_000007.14:92236481:A:G p.(Met139Thr) NC_000007.14:92236481:A:G Identity +NM_000224.3:c.518C>G NP_000215.1:p.Ala173Gly NC_000012.12:52950766:C:G p.(Ala173Gly) NC_000012.12:52950766:C:G p.(Ala173Gly) NC_000012.12:52950766:C:G Identity +NM_005554.4:c.1313A>G NP_005545.1:p.Lys438Arg NC_000012.12:52488438:T:C p.(Lys438Arg) NC_000012.12:52488438:T:C p.(Lys438Arg) NC_000012.12:52488438:T:C Identity +NM_175068.3:c.628A>G NP_778238.1:p.Ser210Gly NC_000012.12:52616199:T:C p.(Ser210Gly) NC_000012.12:52616199:T:C p.(Ser210Gly) NC_000012.12:52616199:T:C Identity +NM_175834.3:c.402G>T NP_787028.1:p.Glu134Asp NC_000012.12:52833858:C:A p.(Glu134Asp) NC_000012.12:52833858:C:A p.(Glu134Asp) NC_000012.12:52833858:C:A Identity +NM_198691.3:c.604G>A NP_941964.2:p.Val202Ile NC_000021.9:44539546:C:T p.(Val202Ile) NC_000021.9:44539546:C:T p.(Val202Ile) NC_000021.9:44539546:C:T Identity +NM_198692.3:c.196G>A NP_941965.2:p.Ala66Thr NC_000021.9:44646653:G:A p.(Ala66Thr) NC_000021.9:44646653:G:A p.(Ala66Thr) NC_000021.9:44646653:G:A Identity +NM_181612.3:c.86G>A NP_853643.1:p.Gly29Asp NC_000021.9:30541747:C:T p.(Gly29Asp) NC_000021.9:30541747:C:T p.(Gly29Asp) NC_000021.9:30541747:C:T Identity +NM_023008.5:c.2060G>A NP_075384.4:p.Arg687His NC_000019.10:10554002:C:T p.(Arg687His) NC_000019.10:10554002:C:T p.(Arg687His) NC_000019.10:10554002:C:T Identity +NM_007043.7:c.40G>A NP_008974.5:p.Gly14Arg NC_000012.12:75511557:C:T p.(Gly14Arg) NC_000012.12:75511557:C:T p.(Gly14Arg) NC_000012.12:75511557:C:T Identity +NM_002274.4:c.662C>G NP_002265.3:p.Ser221Cys NC_000017.11:41503359:G:C p.(Ser221Cys) NC_000017.11:41503359:G:C p.(Ser221Cys) NC_000017.11:41503359:G:C Identity +NM_006771.4:c.1133C>A NP_006762.3:p.Ala378Asp NC_000017.11:41438200:G:T p.(Ala378Asp) NC_000017.11:41438200:G:T p.(Ala378Asp) NC_000017.11:41438200:G:T Identity +NM_001300814.1:c.80A>G NP_001287743.1:p.Lys27Arg NC_000012.12:52848095:T:C p.(Lys27Arg) NC_000012.12:52848095:T:C p.(Lys27Arg) NC_000012.12:52848095:T:C Identity +NM_002281.4:c.850G>A NP_002272.2:p.Asp284Asn NC_000012.12:52288033:C:T p.(Asp284Asn) NC_000012.12:52288033:C:T p.(Asp284Asn) NC_000012.12:52288033:C:T Identity +NM_198692.3:c.701C>T NP_941965.2:p.Ser234Phe NC_000021.9:44647158:C:T p.(Ser234Phe) NC_000021.9:44647158:C:T p.(Ser234Phe) NC_000021.9:44647158:C:T Identity +NM_198687.2:c.395A>C NP_941960.2:p.Asp132Ala NC_000021.9:44574152:A:C p.(Asp132Ala) NC_000021.9:44574152:A:C p.(Asp132Ala) NC_000021.9:44574152:A:C Identity +NM_001377303.1:c.2156C>T NP_001364232.1:p.Pro719Leu NC_000020.11:43536440:C:T p.(Pro719Leu) NC_000020.11:43536440:C:T p.(Pro719Leu) NC_000020.11:43536440:C:T Identity +NM_005559.4:c.6232G>A NP_005550.2:p.Ala2078Thr NC_000018.10:6977839:C:T p.(Ala2078Thr) NC_000018.10:6977839:C:T p.(Ala2078Thr) NC_000018.10:6977839:C:T Identity +NM_030966.2:c.463C>T NP_112228.1:p.Arg155Cys NC_000017.11:41034358:G:A p.(Arg155Cys) NC_000017.11:41034358:G:A p.(Arg155Cys) NC_000017.11:41034358:G:A Identity +NM_181607.3:c.167G>T NP_853638.1:p.Gly56Val NC_000021.9:30480150:C:A p.(Gly56Val) NC_000021.9:30480150:C:A p.(Gly56Val) NC_000021.9:30480150:C:A Identity +NM_052947.4:c.3530C>G NP_443179.3:p.Ala1177Gly NC_000018.10:58536656:G:C p.(Ala1177Gly) NC_000018.10:58536656:G:C p.(Ala1177Gly) NC_000018.10:58536656:G:C Identity +NM_000426.4:c.937A>G NP_000417.3:p.Thr313Ala NC_000006.12:129149005:A:G p.(Thr313Ala) NC_000006.12:129149005:A:G p.(Thr313Ala) NC_000006.12:129149005:A:G Identity +NM_052947.4:c.1805G>A NP_443179.3:p.Cys602Tyr NC_000018.10:58578970:C:T p.(Cys602Tyr) NC_000018.10:58578970:C:T p.(Cys602Tyr) NC_000018.10:58578970:C:T Identity +NM_002291.3:c.1236C>A NP_002282.2:p.Asp412Glu NC_000007.14:107975366:G:T p.(Asp412Glu) NC_000007.14:107975366:G:T p.(Asp412Glu) NC_000007.14:107975366:G:T Identity +NM_052947.4:c.5081G>T NP_443179.3:p.Arg1694Leu NC_000018.10:58535105:C:A p.(Arg1694Leu) NC_000018.10:58535105:C:A p.(Arg1694Leu) NC_000018.10:58535105:C:A Identity +NM_005562.3:c.3566C>G NP_005553.2:p.Ala1189Gly NC_000001.11:183243383:C:G p.(Ala1189Gly) NC_000001.11:183243383:C:G p.(Ala1189Gly) NC_000001.11:183243383:C:G Identity +NM_005560.6:c.1853G>T NP_005551.3:p.Arg618Leu NC_000020.11:62338053:C:A p.(Arg618Leu) NC_000020.11:62338053:C:A p.(Arg618Leu) NC_000020.11:62338053:C:A Identity +NM_005562.3:c.2649C>A NP_005553.2:p.Ser883Arg NC_000001.11:183237398:C:A p.(Ser883Arg) NC_000001.11:183237398:C:A p.(Ser883Arg) NC_000001.11:183237398:C:A Identity +NM_052947.4:c.3857C>G NP_443179.3:p.Pro1286Arg NC_000018.10:58536329:G:C p.(Pro1286Arg) NC_000018.10:58536329:G:C p.(Pro1286Arg) NC_000018.10:58536329:G:C Identity +NM_001105206.3:c.1174A>G NP_001098676.2:p.Arg392Gly NC_000006.12:112178135:T:C p.(Arg392Gly) NC_000006.12:112178135:T:C p.(Arg392Gly) NC_000006.12:112178135:T:C Identity +NM_000228.3:c.2715T>G NP_000219.2:p.Asp905Glu NC_000001.11:209618645:A:C p.(Asp905Glu) NC_000001.11:209618645:A:C p.(Asp905Glu) NC_000001.11:209618645:A:C Identity +NM_004139.5:c.82C>G NP_004130.2:p.Pro28Ala NC_000020.11:38346597:C:G p.(Pro28Ala) NC_000020.11:38346597:C:G p.(Pro28Ala) NC_000020.11:38346597:C:G Identity +NM_052947.4:c.5000A>G NP_443179.3:p.Lys1667Arg NC_000018.10:58535186:T:C p.(Lys1667Arg) NC_000018.10:58535186:T:C p.(Lys1667Arg) NC_000018.10:58535186:T:C Identity +NM_178536.4:c.476C>T NP_848631.2:p.Thr159Met NC_000009.12:136954180:C:T p.(Thr159Met) NC_000009.12:136954180:C:T p.(Thr159Met) NC_000009.12:136954180:C:T Identity +NM_052947.4:c.3683G>A NP_443179.3:p.Gly1228Glu NC_000018.10:58536503:C:T p.(Gly1228Glu) NC_000018.10:58536503:C:T p.(Gly1228Glu) NC_000018.10:58536503:C:T Identity +NM_052947.4:c.3844G>A NP_443179.3:p.Asp1282Asn NC_000018.10:58536342:C:T p.(Asp1282Asn) NC_000018.10:58536342:C:T p.(Asp1282Asn) NC_000018.10:58536342:C:T Identity +NM_000229.2:c.1145T>G NP_000220.1:p.Leu382Arg NC_000016.10:67940081:A:C p.(Leu382Arg) NC_000016.10:67940081:A:C p.(Leu382Arg) NC_000016.10:67940081:A:C Identity +NM_014793.5:c.1631G>A NP_055608.2:p.Gly544Glu NC_000015.10:43328858:C:T p.(Gly544Glu) NC_000015.10:43328858:C:T p.(Gly544Glu) NC_000015.10:43328858:C:T Identity +NM_001105206.3:c.5017G>T NP_001098676.2:p.Ala1673Ser NC_000006.12:112115957:C:A p.(Ala1673Ser) NC_000006.12:112115957:C:A p.(Ala1673Ser) NC_000006.12:112115957:C:A Identity +NM_002291.3:c.1525C>T NP_002282.2:p.Pro509Ser NC_000007.14:107973028:G:A p.(Pro509Ser) NC_000007.14:107973028:G:A p.(Pro509Ser) NC_000007.14:107973028:G:A Identity +NM_001318046.2:c.1510T>C NP_001304975.1:p.Ser504Pro NC_000007.14:108092376:A:G p.(Ser504Pro) NC_000007.14:108092376:A:G p.(Ser504Pro) NC_000007.14:108092376:A:G Identity +NM_006059.4:c.2581G>A NP_006050.3:p.Asp861Asn NC_000009.12:131067192:G:A p.(Asp861Asn) NC_000009.12:131067192:G:A p.(Asp861Asn) NC_000009.12:131067192:G:A Identity +NM_020997.4:c.950T>A NP_066277.1:p.Ile317Asn NC_000001.11:225886877:A:T p.(Ile317Asn) NC_000001.11:225886877:A:T p.(Ile317Asn) NC_000001.11:225886877:A:T Identity +NM_005568.5:c.241A>G NP_005559.2:p.Ser81Gly NC_000017.11:36940359:A:G p.(Ser81Gly) NC_000017.11:36940359:A:G p.(Ser81Gly) NC_000017.11:36940359:A:G Identity +NM_015627.3:c.116G>C NP_056442.2:p.Arg39Pro NC_000001.11:25553948:G:C p.(Arg39Pro) NC_000001.11:25553948:G:C p.(Arg39Pro) NC_000001.11:25553948:G:C Identity +NM_020997.4:c.837G>T NP_066277.1:p.Glu279Asp NC_000001.11:225886990:C:A p.(Glu279Asp) NC_000001.11:225886990:C:A p.(Glu279Asp) NC_000001.11:225886990:C:A Identity +NM_001243689.2:c.647C>T NP_001230618.1:p.Pro216Leu NC_000012.12:51055968:C:T p.(Pro216Leu) NC_000012.12:51055968:C:T p.(Pro216Leu) NC_000012.12:51055968:C:T Identity +NM_001277226.2:c.1093A>T NP_001264155.1:p.Ile365Phe NC_000012.12:71572877:A:T p.(Ile365Phe) NC_000012.12:71572877:A:T p.(Ile365Phe) NC_000012.12:71572877:A:T Identity +NM_001286430.2:c.480A>C NP_001273359.1:p.Gln160His NC_000015.10:51966082:T:G p.(Gln160His) NC_000015.10:51966082:T:G p.(Gln160His) NC_000015.10:51966082:T:G Identity +NM_001198681.2:c.139G>A NP_001185610.1:p.Val47Ile NC_000001.11:65429880:G:A p.(Val47Ile) NC_000001.11:65429880:G:A p.(Val47Ile) NC_000001.11:65429880:G:A Identity +NM_139284.3:c.1600G>A NP_644813.1:p.Asp534Asn NC_000019.10:35125206:C:T p.(Asp534Asn) NC_000019.10:35125206:C:T p.(Asp534Asn) NC_000019.10:35125206:C:T Identity +NM_000229.2:c.767C>T NP_000220.1:p.Pro256Leu NC_000016.10:67940459:G:A p.(Pro256Leu) NC_000016.10:67940459:G:A p.(Pro256Leu) NC_000016.10:67940459:G:A Identity +NM_178354.3:c.319G>A NP_848131.1:p.Gly107Arg NC_000001.11:152776689:G:A p.(Gly107Arg) NC_000001.11:152776689:G:A p.(Gly107Arg) NC_000001.11:152776689:G:A Identity +NM_207510.4:c.326G>A NP_997393.3:p.Arg109Gln NC_000009.12:136984841:G:A p.(Arg109Gln) NC_000009.12:136984841:G:A p.(Arg109Gln) NC_000009.12:136984841:G:A Identity +NM_000527.5:c.1617del NP_000518.1:p.Ala540fs NC_000019.10:11116121:CCC:CC p.(Ala540ProfsTer8) NC_000019.10:11116121:CCC:CC p.(Ala540ProfsTer8) NC_000019.10:11116123:C: Analogous +NM_001308419.2:c.20C>T NP_001295348.1:p.Pro7Leu NC_000019.10:49114423:C:T p.(Pro7Leu) NC_000019.10:49114423:C:T p.(Pro7Leu) NC_000019.10:49114423:C:T Identity +NM_001302998.2:c.713G>C NP_001289927.1:p.Cys238Ser NC_000021.9:14166381:C:G p.(Cys238Ser) NC_000021.9:14166381:C:G p.(Cys238Ser) NC_000021.9:14166381:C:G Identity +NM_153234.5:c.88G>A NP_694966.3:p.Val30Ile NC_000005.10:97124623:C:T p.(Val30Ile) NC_000005.10:97124623:C:T p.(Val30Ile) NC_000005.10:97124623:C:T Identity +NM_001080978.4:c.1378G>C NP_001074447.2:p.Val460Leu NC_000019.10:54276908:C:G p.(Val460Leu) NC_000019.10:54276908:C:G p.(Val460Leu) NC_000019.10:54276908:C:G Identity +NM_004140.4:c.1885A>G NP_004131.4:p.Lys629Glu NC_000017.11:18237753:A:G p.(Lys629Glu) NC_000017.11:18237753:A:G p.(Lys629Glu) NC_000017.11:18237753:A:G Identity +NM_001301782.2:c.1403C>G NP_001288711.1:p.Pro468Arg NC_000019.10:54462123:G:C p.(Pro468Arg) NC_000019.10:54462123:G:C p.(Pro468Arg) NC_000019.10:54462123:G:C Identity +NM_001190441.3:c.331G>A NP_001177370.2:p.Ala111Thr NC_000019.10:39660421:G:A p.(Ala111Thr) NC_000019.10:39660421:G:A p.(Ala111Thr) NC_000019.10:39660421:G:A Identity +NM_001167880.2:c.259G>C NP_001161352.1:p.Ala87Pro NC_000010.11:124484271:G:C p.(Ala87Pro) NC_000010.11:124484271:G:C p.(Ala87Pro) NC_000010.11:124484271:G:C Identity +NM_000234.3:c.2630G>A NP_000225.1:p.Arg877Gln NC_000019.10:48115918:C:T p.(Arg877Gln) NC_000019.10:48115918:C:T p.(Arg877Gln) NC_000019.10:48115918:C:T Identity +NM_001161748.2:c.329T>A NP_001155220.1:p.Leu110His NC_000019.10:51380635:A:T p.(Leu110His) NC_000019.10:51380635:A:T p.(Leu110His) NC_000019.10:51380635:A:T Identity +NM_001300948.3:c.1832G>T NP_001287877.1:p.Gly611Val NC_000016.10:48347531:G:T p.(Gly611Val) NC_000016.10:48347531:G:T p.(Gly611Val) NC_000016.10:48347531:G:T Identity +NM_001031855.3:c.1214C>T NP_001027026.1:p.Ser405Phe NC_000023.11:118989561:C:T p.(Ser405Phe) NC_000023.11:118989561:C:T p.(Ser405Phe) NC_000023.11:118989561:C:T Identity +NM_001080978.4:c.214C>T NP_001074447.2:p.Arg72Trp NC_000019.10:54279931:G:A p.(Arg72Trp) NC_000019.10:54279931:G:A p.(Arg72Trp) NC_000019.10:54279931:G:A Identity +NM_001031801.2:c.1028G>T NP_001026971.1:p.Arg343Leu NC_000022.11:31267032:G:T p.(Arg343Leu) NC_000022.11:31267032:G:T p.(Arg343Leu) NC_000022.11:31267032:G:T Identity +NM_001144869.3:c.418C>T NP_001138341.1:p.Pro140Ser NC_000011.10:74493285:G:A p.(Pro140Ser) NC_000011.10:74493285:G:A p.(Pro140Ser) NC_000011.10:74493285:G:A Identity +NM_001080434.2:c.2285C>T NP_001073903.2:p.Ala762Val NC_000019.10:48498783:G:A p.(Ala762Val) NC_000019.10:48498783:G:A p.(Ala762Val) NC_000019.10:48498783:G:A Identity +NM_153371.4:c.610C>T NP_699202.1:p.Pro204Ser NC_000013.11:27569073:G:A p.(Pro204Ser) NC_000013.11:27569073:G:A p.(Pro204Ser) NC_000013.11:27569073:G:A Identity +NM_001329976.2:c.247C>T NP_001316905.1:p.Pro83Ser NC_000008.11:12755173:G:A p.(Pro83Ser) NC_000008.11:12755173:G:A p.(Pro83Ser) NC_000008.11:12755173:G:A Identity +NM_001278000.3:c.589T>C NP_001264929.1:p.Trp197Arg NC_000023.11:78755457:T:C p.(Trp197Arg) NC_000023.11:78755457:T:C p.(Trp197Arg) NC_000023.11:78755457:T:C Identity +NM_001363524.2:c.1558G>A NP_001350453.1:p.Val520Met NC_000011.10:66859844:G:A p.(Val520Met) NC_000011.10:66859844:G:A p.(Val520Met) NC_000011.10:66859844:G:A Identity +NM_001363524.2:c.553C>T NP_001350453.1:p.Pro185Ser NC_000011.10:66858296:C:T p.(Pro185Ser) NC_000011.10:66858296:C:T p.(Pro185Ser) NC_000011.10:66858296:C:T Identity +NM_005575.3:c.422G>T NP_005566.2:p.Cys141Phe NC_000005.10:96979539:G:T p.(Cys141Phe) NC_000005.10:96979539:G:T p.(Cys141Phe) NC_000005.10:96979539:G:T Identity +NM_153371.4:c.1510C>T NP_699202.1:p.His504Tyr NC_000013.11:27556271:G:A p.(His504Tyr) NC_000013.11:27556271:G:A p.(His504Tyr) NC_000013.11:27556271:G:A Identity +NM_002317.7:c.520C>A NP_002308.2:p.Pro174Thr NC_000005.10:122077465:G:T p.(Pro174Thr) NC_000005.10:122077465:G:T p.(Pro174Thr) NC_000005.10:122077465:G:T Identity +NM_001363524.2:c.652C>T NP_001350453.1:p.Arg218Cys NC_000011.10:66858395:C:T p.(Arg218Cys) NC_000011.10:66858395:C:T p.(Arg218Cys) NC_000011.10:66858395:C:T Identity +NM_001365700.3:c.638C>A NP_001352629.1:p.Ala213Glu NC_000007.14:134148286:C:A p.(Ala213Glu) NC_000007.14:134148286:C:A p.(Ala213Glu) NC_000007.14:134148286:C:A Identity +NM_002318.3:c.758G>A NP_002309.1:p.Arg253Gln NC_000008.11:23333608:C:T p.(Arg253Gln) NC_000008.11:23333608:C:T p.(Arg253Gln) NC_000008.11:23333608:C:T Identity +NM_002333.4:c.1483C>T NP_002324.2:p.Arg495Cys NC_000019.10:33206252:C:T p.(Arg495Cys) NC_000019.10:33206252:C:T p.(Arg495Cys) NC_000019.10:33206252:C:T Identity +NM_001031692.3:c.931G>A NP_001026862.1:p.Ala311Thr NC_000007.14:102944211:G:A p.(Ala311Thr) NC_000007.14:102944211:G:A p.(Ala311Thr) NC_000007.14:102944211:G:A Identity +NM_153613.3:c.819C>A NP_705841.2:p.His273Gln NC_000015.10:34362637:G:T p.(His273Gln) NC_000015.10:34362637:G:T p.(His273Gln) NC_000015.10:34362637:G:T Identity +NM_001167671.3:c.802C>T NP_001161143.1:p.Arg268Trp NC_000003.12:188609532:C:T p.(Arg268Trp) NC_000003.12:188609532:C:T p.(Arg268Trp) NC_000003.12:188609532:C:T Identity +NM_001243963.2:c.286A>G NP_001230892.1:p.Ser96Gly NC_000023.11:115233755:T:C p.(Ser96Gly) NC_000023.11:115233755:T:C p.(Ser96Gly) NC_000023.11:115233755:T:C Identity +NM_020778.5:c.2456G>T NP_065829.4:p.Arg819Leu NC_000015.10:84857193:G:T p.(Arg819Leu) NC_000015.10:84857193:G:T p.(Arg819Leu) NC_000015.10:84857193:G:T Identity +NM_001375808.2:c.575G>A NP_001362737.1:p.Gly192Glu NC_000018.10:2951069:C:T p.(Gly192Glu) NC_000018.10:2951069:C:T p.(Gly192Glu) NC_000018.10:2951069:C:T Identity +NM_174911.5:c.217C>T NP_777571.1:p.Pro73Ser NC_000008.11:126557172:G:A p.(Pro73Ser) NC_000008.11:126557172:G:A p.(Pro73Ser) NC_000008.11:126557172:G:A Identity +NM_174911.5:c.181G>A NP_777571.1:p.Asp61Asn NC_000008.11:126557208:C:T p.(Asp61Asn) NC_000008.11:126557208:C:T p.(Asp61Asn) NC_000008.11:126557208:C:T Identity +NM_001363887.1:c.710A>G NP_001350816.1:p.Tyr237Cys NC_000003.12:197826946:A:G p.(Tyr237Cys) NC_000003.12:197826946:A:G p.(Tyr237Cys) NC_000003.12:197826946:A:G Identity +NM_001363524.2:c.346C>T NP_001350453.1:p.Leu116Phe NC_000011.10:66858089:C:T p.(Leu116Phe) NC_000011.10:66858089:C:T p.(Leu116Phe) NC_000011.10:66858089:C:T Identity +NM_018557.3:c.11960A>C NP_061027.2:p.Asp3987Ala NC_000002.12:140335770:T:G p.(Asp3987Ala) NC_000002.12:140335770:T:G p.(Asp3987Ala) NC_000002.12:140335770:T:G Identity +NM_002334.4:c.3808T>C NP_002325.2:p.Trp1270Arg NC_000011.10:46875572:A:G p.(Trp1270Arg) NC_000011.10:46875572:A:G p.(Trp1270Arg) NC_000011.10:46875572:A:G Identity +NM_001414244.1:c.863T>C NP_001401173.1:p.Ile288Thr NC_000012.12:12184092:A:G p.(Ile288Thr) NC_000012.12:12184092:A:G p.(Ile288Thr) NC_000012.12:12184092:A:G Identity +NM_001195545.2:c.523G>C NP_001182474.1:p.Val175Leu NC_000017.11:39944428:G:C p.(Val175Leu) NC_000017.11:39944428:G:C p.(Val175Leu) NC_000017.11:39944428:G:C Identity +NM_001005210.4:c.265A>G NP_001005210.2:p.Met89Val NC_000011.10:57182286:A:G p.(Met89Val) NC_000011.10:57182286:A:G p.(Met89Val) NC_000011.10:57182286:A:G Identity +NM_001013653.3:c.329T>G NP_001013675.1:p.Val110Gly NC_000009.12:137169614:A:C p.(Val110Gly) NC_000009.12:137169614:A:C p.(Val110Gly) NC_000009.12:137169614:A:C Identity +NM_001128922.2:c.74C>T NP_001122394.1:p.Pro25Leu NC_000011.10:76665880:G:A p.(Pro25Leu) NC_000011.10:76665880:G:A p.(Pro25Leu) NC_000011.10:76665880:G:A Identity +NM_001128922.2:c.731A>G NP_001122394.1:p.Gln244Arg NC_000011.10:76660861:T:C p.(Gln244Arg) NC_000011.10:76660861:T:C p.(Gln244Arg) NC_000011.10:76660861:T:C Identity +NM_020778.5:c.4880G>A NP_065829.4:p.Gly1627Asp NC_000015.10:84868217:G:A p.(Gly1627Asp) NC_000015.10:84868217:G:A p.(Gly1627Asp) NC_000015.10:84868217:G:A Identity +NM_001031692.3:c.121G>C NP_001026862.1:p.Gly41Arg NC_000007.14:102934033:G:C p.(Gly41Arg) NC_000007.14:102934033:G:C p.(Gly41Arg) NC_000007.14:102934033:G:C Identity +NM_001163941.2:c.433C>T NP_001157413.1:p.His145Tyr NC_000007.14:20643301:C:T p.(His145Tyr) NC_000007.14:20643301:C:T p.(His145Tyr) NC_000007.14:20643301:C:T Identity +NM_014834.4:c.4817G>A NP_055649.4:p.Cys1606Tyr NC_000017.11:46335551:G:A p.(Cys1606Tyr) NC_000017.11:46335551:G:A p.(Cys1606Tyr) NC_000017.11:46335551:G:A Identity +NM_144702.3:c.1450A>C NP_653303.2:p.Ile484Leu NC_000001.11:156932431:A:C p.(Ile484Leu) NC_000001.11:156932431:A:C p.(Ile484Leu) NC_000001.11:156932431:A:C Identity +NM_001080460.3:c.1002T>A NP_001073929.1:p.Asp334Glu NC_000003.12:169822922:T:A p.(Asp334Glu) NC_000003.12:169822922:T:A p.(Asp334Glu) NC_000003.12:169822922:T:A Identity +NM_198578.4:c.223G>C NP_940980.4:p.Ala75Pro NC_000012.12:40225625:G:C p.(Ala75Pro) NC_000012.12:40225625:G:C p.(Ala75Pro) NC_000012.12:40225625:G:C Identity +NM_198578.4:c.5684G>T NP_940980.4:p.Arg1895Leu NC_000012.12:40328386:G:T p.(Arg1895Leu) NC_000012.12:40328386:G:T p.(Arg1895Leu) NC_000012.12:40328386:G:T Identity +NM_199340.5:c.426G>T NP_955372.2:p.Arg142Ser NC_000017.11:64896831:C:A p.(Arg142Ser) NC_000017.11:64896831:C:A p.(Arg142Ser) NC_000017.11:64896831:C:A Identity +NM_001012974.4:c.488G>A NP_001012992.1:p.Ser163Asn NC_000006.12:43508365:C:T p.(Ser163Asn) NC_000006.12:43508365:C:T p.(Ser163Asn) NC_000006.12:43508365:C:T Identity +NM_001079910.2:c.1541A>C NP_001073379.1:p.Asn514Thr NC_000012.12:85056333:A:C p.(Asn514Thr) NC_000012.12:85056333:A:C p.(Asn514Thr) NC_000012.12:85056333:A:C Identity +NM_024652.6:c.770G>A NP_078928.3:p.Arg257His NC_000015.10:101008843:G:A p.(Arg257His) NC_000015.10:101008843:G:A p.(Arg257His) NC_000015.10:101008843:G:A Identity +NM_198578.4:c.7461A>C NP_940980.4:p.Lys2487Asn NC_000012.12:40367075:A:C p.(Lys2487Asn) NC_000012.12:40367075:A:C p.(Lys2487Asn) NC_000012.12:40367075:A:C Identity +NM_198578.4:c.4570C>T NP_940980.4:p.Pro1524Ser NC_000012.12:40314004:C:T p.(Pro1524Ser) NC_000012.12:40314004:C:T p.(Pro1524Ser) NC_000012.12:40314004:C:T Identity +NM_006338.3:c.326G>A NP_006329.2:p.Arg109Gln NC_000001.11:204619666:C:T p.(Arg109Gln) NC_000001.11:204619666:C:T p.(Arg109Gln) NC_000001.11:204619666:C:T Identity +NM_014463.3:c.61A>T NP_055278.1:p.Ile21Phe NC_000003.12:14181598:A:T p.(Ile21Phe) NC_000003.12:14181598:A:T p.(Ile21Phe) NC_000003.12:14181598:A:T Identity +NM_001320766.2:c.2068C>T NP_001307695.2:p.Arg690Trp NC_000021.9:28966422:G:A p.(Arg690Trp) NC_000021.9:28966422:G:A p.(Arg690Trp) NC_000021.9:28966422:G:A Identity +NM_203403.2:c.517G>C NP_981948.1:p.Gly173Arg NC_000009.12:12821589:G:C p.(Gly173Arg) NC_000009.12:12821589:G:C p.(Gly173Arg) NC_000009.12:12821589:G:C Identity +NM_198578.4:c.7409T>A NP_940980.4:p.Met2470Lys NC_000012.12:40367023:T:A p.(Met2470Lys) NC_000012.12:40367023:T:A p.(Met2470Lys) NC_000012.12:40367023:T:A Identity +NM_152611.5:c.1781C>A NP_689824.2:p.Thr594Lys NC_000020.11:6041463:G:T p.(Thr594Lys) NC_000020.11:6041463:G:T p.(Thr594Lys) NC_000020.11:6041463:G:T Identity +NM_144999.4:c.1946T>C NP_659436.1:p.Phe649Ser NC_000017.11:82030737:T:C p.(Phe649Ser) NC_000017.11:82030737:T:C p.(Phe649Ser) NC_000017.11:82030737:T:C Identity +NM_001127244.2:c.2161G>A NP_001120716.1:p.Glu721Lys NC_000009.12:128916098:G:A p.(Glu721Lys) NC_000009.12:128916098:G:A p.(Glu721Lys) NC_000009.12:128916098:G:A Identity +NM_001268284.3:c.1268T>C NP_001255213.1:p.Leu423Pro NC_000019.10:7899789:T:C p.(Leu423Pro) NC_000019.10:7899789:T:C p.(Leu423Pro) NC_000019.10:7899789:T:C Identity +NM_001137552.2:c.2071G>C NP_001131024.1:p.Ala691Pro NC_000002.12:237763783:G:C p.(Ala691Pro) NC_000002.12:237763783:G:C p.(Ala691Pro) NC_000002.12:237763783:G:C Identity +NM_001134369.2:c.761C>T NP_001127841.1:p.Ser254Phe NC_000003.12:37065856:G:A p.(Ser254Phe) NC_000003.12:37065856:G:A p.(Ser254Phe) NC_000003.12:37065856:G:A Identity +NM_001039029.3:c.102G>T NP_001034118.1:p.Glu34Asp NC_000012.12:1830968:G:T p.(Glu34Asp) NC_000012.12:1830968:G:T p.(Glu34Asp) NC_000012.12:1830968:G:T Identity +NM_001267782.2:c.3725C>T NP_001254711.1:p.Pro1242Leu NC_000011.10:46397630:G:A p.(Pro1242Leu) NC_000011.10:46397630:G:A p.(Pro1242Leu) NC_000011.10:46397630:G:A Identity +NM_001394062.1:c.12758T>C NP_001380991.1:p.Phe4253Ser NC_000001.11:39361663:T:C p.(Phe4253Ser) NC_000001.11:39361663:T:C p.(Phe4253Ser) NC_000001.11:39361663:T:C Identity +NM_001317721.2:c.1133G>T NP_001304650.1:p.Trp378Leu NC_000007.14:102472507:G:T p.(Trp378Leu) NC_000007.14:102472507:G:T p.(Trp378Leu) NC_000007.14:102472507:G:T Identity +NM_198578.4:c.875A>T NP_940980.4:p.His292Leu NC_000012.12:40249861:A:T p.(His292Leu) NC_000012.12:40249861:A:T p.(His292Leu) NC_000012.12:40249861:A:T Identity +NM_198578.4:c.6451A>G NP_940980.4:p.Ile2151Val NC_000012.12:40351607:A:G p.(Ile2151Val) NC_000012.12:40351607:A:G p.(Ile2151Val) NC_000012.12:40351607:A:G Identity +NM_198578.4:c.1804A>T NP_940980.4:p.Ile602Phe NC_000012.12:40274855:A:T p.(Ile602Phe) NC_000012.12:40274855:A:T p.(Ile602Phe) NC_000012.12:40274855:A:T Identity +NM_001281295.2:c.460G>A NP_001268224.1:p.Val154Met NC_000002.12:74607189:C:T p.(Val154Met) NC_000002.12:74607189:C:T p.(Val154Met) NC_000002.12:74607189:C:T Identity +NM_001013836.2:c.682C>G NP_001013858.1:p.Leu228Val NC_000007.14:2216283:G:C p.(Leu228Val) NC_000007.14:2216283:G:C p.(Leu228Val) NC_000007.14:2216283:G:C Identity +NM_019066.5:c.2843G>T NP_061939.3:p.Gly948Val NC_000015.10:23644899:C:A p.(Gly948Val) NC_000015.10:23644899:C:A p.(Gly948Val) NC_000015.10:23644899:C:A Identity +NM_153267.5:c.1667T>C NP_694999.3:p.Ile556Thr NC_000009.12:70218351:T:C p.(Ile556Thr) NC_000009.12:70218351:T:C p.(Ile556Thr) NC_000009.12:70218351:T:C Identity +NM_001394062.1:c.611C>G NP_001380991.1:p.Ala204Gly NC_000001.11:39282289:C:G p.(Ala204Gly) NC_000001.11:39282289:C:G p.(Ala204Gly) NC_000001.11:39282289:C:G Identity +NM_005363.5:c.418G>C NP_005354.1:p.Val140Leu NC_000023.11:152767232:C:G p.(Val140Leu) NC_000023.11:152767232:C:G p.(Val140Leu) NC_000023.11:152767232:C:G Identity +NM_016249.4:c.741G>C NP_057333.1:p.Glu247Asp NC_000023.11:142203246:C:G p.(Glu247Asp) NC_000023.11:142203246:C:G p.(Glu247Asp) NC_000023.11:142203246:C:G Identity +NM_001289010.2:c.409G>A NP_001275939.1:p.Glu137Lys NC_000001.11:25618205:G:A p.(Glu137Lys) NC_000001.11:25618205:G:A p.(Glu137Lys) NC_000001.11:25618205:G:A Identity +NM_001363910.2:c.3584G>A NP_001350839.1:p.Gly1195Glu NC_000002.12:209695765:G:A p.(Gly1195Glu) NC_000002.12:209695765:G:A p.(Gly1195Glu) NC_000002.12:209695765:G:A Identity +NM_001166386.3:c.443C>T NP_001159858.1:p.Pro148Leu NC_000023.11:152736603:C:T p.(Pro148Leu) NC_000023.11:152736603:C:T p.(Pro148Leu) NC_000023.11:152736603:C:T Identity +NM_138702.1:c.1580A>G NP_619647.1:p.Asp527Gly NC_000023.11:141897337:A:G p.(Asp527Gly) NC_000023.11:141897337:A:G p.(Asp527Gly) NC_000023.11:141897337:A:G Identity +NM_032427.4:c.589G>A NP_115803.1:p.Asp197Asn NC_000011.10:96093441:C:T p.(Asp197Asn) NC_000011.10:96093441:C:T p.(Asp197Asn) NC_000011.10:96093441:C:T Identity +NM_001349828.2:c.596A>G NP_001336757.1:p.Lys199Arg NC_000002.12:219216785:T:C p.(Lys199Arg) NC_000002.12:219216785:T:C p.(Lys199Arg) NC_000002.12:219216785:T:C Identity +NM_022818.5:c.230A>G NP_073729.1:p.Gln77Arg NC_000016.10:87402948:A:G p.(Gln77Arg) NC_000016.10:87402948:A:G p.(Gln77Arg) NC_000016.10:87402948:A:G Identity +NM_001085481.3:c.221A>T NP_001078950.1:p.Asn74Ile NC_000012.12:116576162:A:T p.(Asn74Ile) NC_000012.12:116576162:A:T p.(Asn74Ile) NC_000012.12:116576162:A:T Identity +NM_001031740.3:c.305A>T NP_001026910.1:p.Tyr102Phe NC_000001.11:37794486:A:T p.(Tyr102Phe) NC_000001.11:37794486:A:T p.(Tyr102Phe) NC_000001.11:37794486:A:T Identity +NM_001411089.1:c.8018A>G NP_001398018.1:p.Gln2673Arg NC_000015.10:43528776:A:G p.(Gln2673Arg) NC_000015.10:43528776:A:G p.(Gln2673Arg) NC_000015.10:43528776:A:G Identity +NM_032272.5:c.206C>T NP_115648.2:p.Pro69Leu NC_000008.11:144105990:C:T p.(Pro69Leu) NC_000008.11:144105990:C:T p.(Pro69Leu) NC_000008.11:144105990:C:T Identity +NM_001297609.2:c.1090G>A NP_001284538.1:p.Ala364Thr NC_000001.11:27362878:C:T p.(Ala364Thr) NC_000001.11:27362878:C:T p.(Ala364Thr) NC_000001.11:27362878:C:T Identity +NM_001307990.2:c.1558C>T NP_001294919.1:p.His520Tyr NC_000011.10:64796543:G:A p.(His520Tyr) NC_000011.10:64796543:G:A p.(His520Tyr) NC_000011.10:64796543:G:A Identity +NM_001270425.2:c.817G>A NP_001257354.1:p.Val273Ile NC_000002.12:39325618:C:T p.(Val273Ile) NC_000002.12:39325618:C:T p.(Val273Ile) NC_000002.12:39325618:C:T Identity +NM_001039580.2:c.244G>A NP_001034669.1:p.Glu82Lys NC_000004.12:155373372:C:T p.(Glu82Lys) NC_000004.12:155373372:C:T p.(Glu82Lys) NC_000004.12:155373372:C:T Identity +NM_001102562.3:c.1175C>T NP_001096032.1:p.Ser392Leu NC_000005.10:16067504:G:A p.(Ser392Leu) NC_000005.10:16067504:G:A p.(Ser392Leu) NC_000005.10:16067504:G:A Identity +NM_052967.2:c.616A>G NP_443199.1:p.Ile206Val NC_000006.12:29487286:T:C p.(Ile206Val) NC_000006.12:29487286:T:C p.(Ile206Val) NC_000006.12:29487286:T:C Identity +NM_001317748.2:c.268G>A NP_001304677.1:p.Gly90Ser NC_000008.11:97931077:G:A p.(Gly90Ser) NC_000008.11:97931077:G:A p.(Gly90Ser) NC_000008.11:97931077:G:A Identity +NM_001286365.2:c.2240T>G NP_001273294.1:p.Val747Gly NC_000001.11:36179905:T:G p.(Val747Gly) NC_000001.11:36179905:T:G p.(Val747Gly) NC_000001.11:36179905:T:G Identity +NM_005908.4:c.2594A>T NP_005899.3:p.Glu865Val NC_000004.12:102632102:T:A p.(Glu865Val) NC_000004.12:102632102:T:A p.(Glu865Val) NC_000004.12:102632102:T:A Identity +NM_001278595.2:c.734A>G NP_001265524.1:p.Asp245Gly NC_000007.14:100096106:T:C p.(Asp245Gly) NC_000007.14:100096106:T:C p.(Asp245Gly) NC_000007.14:100096106:T:C Identity +NM_001184998.2:c.337C>T NP_001171927.1:p.Pro113Ser NC_000016.10:15636149:G:A p.(Pro113Ser) NC_000016.10:15636149:G:A p.(Pro113Ser) NC_000016.10:15636149:G:A Identity +NM_001393501.1:c.1939G>A NP_001380430.1:p.Ala647Thr NC_000019.10:18135783:G:A p.(Ala647Thr) NC_000019.10:18135783:G:A p.(Ala647Thr) NC_000019.10:18135783:G:A Identity +NM_001039580.2:c.1833A>C NP_001034669.1:p.Glu611Asp NC_000004.12:155347893:T:G p.(Glu611Asp) NC_000004.12:155347893:T:G p.(Glu611Asp) NC_000004.12:155347893:T:G Identity +NM_139021.3:c.535G>A NP_620590.2:p.Ala179Thr NC_000008.11:143719109:G:A p.(Ala179Thr) NC_000008.11:143719109:G:A p.(Ala179Thr) NC_000008.11:143719109:G:A Identity +NM_001278683.1:c.1381C>A NP_001265612.1:p.Arg461Ser NC_000003.12:134365888:G:T p.(Arg461Ser) NC_000003.12:134365888:G:T p.(Arg461Ser) NC_000003.12:134365888:G:T Identity +NM_001184998.2:c.4844G>A NP_001171927.1:p.Arg1615His NC_000016.10:15598993:C:T p.(Arg1615His) NC_000016.10:15598993:C:T p.(Arg1615His) NC_000016.10:15598993:C:T Identity +NM_203406.2:c.725G>T NP_981951.2:p.Arg242Leu NC_000005.10:90461281:C:A p.(Arg242Leu) NC_000005.10:90461281:C:A p.(Arg242Leu) NC_000005.10:90461281:C:A Identity +NM_001321265.2:c.1271C>T NP_001308194.1:p.Ser424Leu NC_000002.12:8858703:G:A p.(Ser424Leu) NC_000002.12:8858703:G:A p.(Ser424Leu) NC_000002.12:8858703:G:A Identity +NM_001099855.2:c.2355C>A NP_001093325.1:p.His785Gln NC_000023.11:139596650:G:T p.(His785Gln) NC_000023.11:139596650:G:T p.(His785Gln) NC_000023.11:139596650:G:T Identity +NM_001159643.2:c.1451C>T NP_001153115.1:p.Ala484Val NC_000015.10:94367753:C:T p.(Ala484Val) NC_000015.10:94367753:C:T p.(Ala484Val) NC_000015.10:94367753:C:T Identity +NM_014611.3:c.4651C>T NP_055426.1:p.Arg1551Cys NC_000006.12:89738397:G:A p.(Arg1551Cys) NC_000006.12:89738397:G:A p.(Arg1551Cys) NC_000006.12:89738397:G:A Identity +NM_014611.3:c.1993G>C NP_055426.1:p.Val665Leu NC_000006.12:89772662:C:G p.(Val665Leu) NC_000006.12:89772662:C:G p.(Val665Leu) NC_000006.12:89772662:C:G Identity +NM_001100875.3:c.1144A>G NP_001094345.1:p.Arg382Gly NC_000017.11:62736723:T:C p.(Arg382Gly) NC_000017.11:62736723:T:C p.(Arg382Gly) NC_000017.11:62736723:T:C Identity +NM_001085377.2:c.1009A>G NP_001078846.2:p.Met337Val NC_000005.10:113122701:T:C p.(Met337Val) NC_000005.10:113122701:T:C p.(Met337Val) NC_000005.10:113122701:T:C Identity +NM_020533.3:c.955T>C NP_065394.1:p.Ser319Pro NC_000019.10:7528673:T:C p.(Ser319Pro) NC_000019.10:7528673:T:C p.(Ser319Pro) NC_000019.10:7528673:T:C Identity +NM_153487.4:c.1771G>C NP_705691.1:p.Ala591Pro NC_000006.12:37649104:C:G p.(Ala591Pro) NC_000006.12:37649104:C:G p.(Ala591Pro) NC_000006.12:37649104:C:G Identity +NM_001014811.2:c.724C>G NP_001014811.1:p.Leu242Val NC_000011.10:86487421:G:C p.(Leu242Val) NC_000011.10:86487421:G:C p.(Leu242Val) NC_000011.10:86487421:G:C Identity +NM_001024732.4:c.826G>A NP_001019903.3:p.Asp276Asn NC_000001.11:29194089:C:T p.(Asp276Asn) NC_000001.11:29194089:C:T p.(Asp276Asn) NC_000001.11:29194089:C:T Identity +NM_001322809.2:c.421C>A NP_001309738.1:p.Gln141Lys NC_000020.11:890256:G:T p.(Gln141Lys) NC_000020.11:890256:G:T p.(Gln141Lys) NC_000020.11:890256:G:T Identity +NM_001635.4:c.1429G>A NP_001626.1:p.Val477Ile NC_000007.14:38394183:C:T p.(Val477Ile) NC_000007.14:38394183:C:T p.(Val477Ile) NC_000007.14:38394183:C:T Identity +NM_001144891.2:c.502G>A NP_001138363.1:p.Glu168Lys NC_000014.9:36314580:C:T p.(Glu168Lys) NC_000014.9:36314580:C:T p.(Glu168Lys) NC_000014.9:36314580:C:T Identity +NM_001146056.3:c.791C>T NP_001139528.1:p.Pro264Leu NC_000019.10:54178785:G:A p.(Pro264Leu) NC_000019.10:54178785:G:A p.(Pro264Leu) NC_000019.10:54178785:G:A Identity +NM_001271938.2:c.5110G>A NP_001258867.1:p.Glu1704Lys NC_000019.10:42358241:G:A p.(Glu1704Lys) NC_000019.10:42358241:G:A p.(Glu1704Lys) NC_000019.10:42358241:G:A Identity +NM_001009813.3:c.191C>T NP_001009813.1:p.Pro64Leu NC_000019.10:47416957:G:A p.(Pro64Leu) NC_000019.10:47416957:G:A p.(Pro64Leu) NC_000019.10:47416957:G:A Identity +NM_000245.4:c.773T>C NP_000236.2:p.Phe258Ser NC_000007.14:116699856:T:C p.(Phe258Ser) NC_000007.14:116699856:T:C p.(Phe258Ser) NC_000007.14:116699856:T:C Identity +NM_000245.4:c.1291A>T NP_000236.2:p.Met431Leu NC_000007.14:116731757:A:T p.(Met431Leu) NC_000007.14:116731757:A:T p.(Met431Leu) NC_000007.14:116731757:A:T Identity +NM_000245.4:c.953A>G NP_000236.2:p.Gln318Arg NC_000007.14:116700036:A:G p.(Gln318Arg) NC_000007.14:116700036:A:G p.(Gln318Arg) NC_000007.14:116700036:A:G Identity +NM_018670.4:c.469G>A NP_061140.1:p.Ala157Thr NC_000015.10:89750762:C:T p.(Ala157Thr) NC_000015.10:89750762:C:T p.(Ala157Thr) NC_000015.10:89750762:C:T Identity +NM_000245.4:c.3010C>T NP_000236.2:p.Arg1004Ter NC_000007.14:116771970:C:T p.(Arg1004Ter) NC_000007.14:116771970:C:T p.(Arg1004Ter) NC_000007.14:116771970:C:T Identity +NM_004225.3:c.2879C>G NP_004216.2:p.Thr960Ser NC_000008.11:8890179:G:C p.(Thr960Ser) NC_000008.11:8890179:G:C p.(Thr960Ser) NC_000008.11:8890179:G:C Identity +NM_001378356.1:c.1909G>A NP_001365285.1:p.Glu637Lys NC_000006.12:118826198:C:T p.(Glu637Lys) NC_000006.12:118826198:C:T p.(Glu637Lys) NC_000006.12:118826198:C:T Identity +NM_001256706.2:c.293T>C NP_001243635.1:p.Val98Ala NC_000004.12:145064605:A:G p.(Val98Ala) NC_000004.12:145064605:A:G p.(Val98Ala) NC_000004.12:145064605:A:G Identity +NM_020947.4:c.1081A>G NP_065998.3:p.Met361Val NC_000016.10:84480704:T:C p.(Met361Val) NC_000016.10:84480704:T:C p.(Met361Val) NC_000016.10:84480704:T:C Identity +NM_015241.3:c.3900C>A NP_056056.2:p.Ser1300Arg NC_000022.11:17818760:G:T p.(Ser1300Arg) NC_000022.11:17818760:G:T p.(Ser1300Arg) NC_000022.11:17818760:G:T Identity +NM_015241.3:c.5155C>T NP_056056.2:p.Arg1719Trp NC_000022.11:17817505:G:A p.(Arg1719Trp) NC_000022.11:17817505:G:A p.(Arg1719Trp) NC_000022.11:17817505:G:A Identity +NM_001346105.2:c.1081A>G NP_001333034.1:p.Met361Val NC_000019.10:308585:T:C p.(Met361Val) NC_000019.10:308585:T:C p.(Met361Val) NC_000019.10:308585:T:C Identity +NM_004774.4:c.4520T>G NP_004765.2:p.Val1507Gly NC_000017.11:39407700:A:C p.(Val1507Gly) NC_000017.11:39407700:A:C p.(Val1507Gly) NC_000017.11:39407700:A:C Identity +NM_004229.4:c.464C>T NP_004220.2:p.Pro155Leu NC_000023.11:40714594:G:A p.(Pro155Leu) NC_000023.11:40714594:G:A p.(Pro155Leu) NC_000023.11:40714594:G:A Identity +NM_001127350.2:c.68T>C NP_001120822.1:p.Leu23Ser NC_000001.11:28330729:T:C p.(Leu23Ser) NC_000001.11:28330729:T:C p.(Leu23Ser) NC_000001.11:28330729:T:C Identity +NM_152513.4:c.1270G>A NP_689726.3:p.Val424Ile NC_000022.11:41732541:G:A p.(Val424Ile) NC_000022.11:41732541:G:A p.(Val424Ile) NC_000022.11:41732541:G:A Identity +NM_001009813.3:c.421C>T NP_001009813.1:p.Arg141Trp NC_000019.10:47415076:G:A p.(Arg141Trp) NC_000019.10:47415076:G:A p.(Arg141Trp) NC_000019.10:47415076:G:A Identity +NM_178127.5:c.436C>T NP_835228.2:p.His146Tyr NC_000011.10:101904816:G:A p.(His146Tyr) NC_000011.10:101904816:G:A p.(His146Tyr) NC_000011.10:101904816:G:A Identity +NM_004996.4:c.2573G>A NP_004987.2:p.Arg858Gln NC_000016.10:16090516:G:A p.(Arg858Gln) NC_000016.10:16090516:G:A p.(Arg858Gln) NC_000016.10:16090516:G:A Identity +NM_001410818.1:c.2701A>T NP_001397747.1:p.Met901Leu NC_000022.11:37940767:A:T p.(Met901Leu) NC_000022.11:37940767:A:T p.(Met901Leu) NC_000022.11:37940767:A:T Identity +NM_001113528.2:c.32A>G NP_001107000.1:p.Tyr11Cys NC_000011.10:28113365:A:G p.(Tyr11Cys) NC_000011.10:28113365:A:G p.(Tyr11Cys) NC_000011.10:28113365:A:G Identity +NM_001142560.2:c.780C>T NP_001136032.1:p.Asp260= NC_000001.11:156735867:C:T p.(Asp260=) NC_000001.11:156735867:C:T p.(Asp260=) NC_000001.11:156735867:C:T Identity +NM_001363520.3:c.625T>G NP_001350449.1:p.Phe209Val NC_000004.12:127933021:A:C p.(Phe209Val) NC_000004.12:127933021:A:C p.(Phe209Val) NC_000004.12:127933021:A:C Identity +NM_018670.4:c.247C>A NP_061140.1:p.Gln83Lys NC_000015.10:89750984:G:T p.(Gln83Lys) NC_000015.10:89750984:G:T p.(Gln83Lys) NC_000015.10:89750984:G:T Identity +NM_001127500.3:c.2272T>C NP_001120972.1:p.Trp758Arg NC_000007.14:116759343:T:C p.(Trp758Arg) NC_000007.14:116759343:T:C p.(Trp758Arg) NC_000007.14:116759343:T:C Identity +NM_001024937.4:c.1712C>T NP_001020108.1:p.Pro571Leu NC_000017.11:4891095:C:T p.(Pro571Leu) NC_000017.11:4891095:C:T p.(Pro571Leu) NC_000017.11:4891095:C:T Identity +NM_001271707.2:c.478C>A NP_001258636.1:p.Pro160Thr NC_000003.12:12572337:C:A p.(Pro160Thr) NC_000003.12:12572337:C:A p.(Pro160Thr) NC_000003.12:12572337:C:A Identity +NM_001040108.2:c.2762T>A NP_001035197.1:p.Met921Lys NC_000014.9:75046893:A:T p.(Met921Lys) NC_000014.9:75046893:A:T p.(Met921Lys) NC_000014.9:75046893:A:T Identity +NM_001040108.2:c.1253A>T NP_001035197.1:p.Glu418Val NC_000014.9:75048402:T:A p.(Glu418Val) NC_000014.9:75048402:T:A p.(Glu418Val) NC_000014.9:75048402:T:A Identity +NM_005941.5:c.1069A>T NP_005932.2:p.Met357Leu NC_000008.11:88116520:T:A p.(Met357Leu) NC_000008.11:88116520:T:A p.(Met357Leu) NC_000008.11:88116520:T:A Identity +NM_001411000.1:c.529G>T NP_001397929.1:p.Ala177Ser NC_000012.12:131841697:G:T p.(Ala177Ser) NC_000012.12:131841697:G:T p.(Ala177Ser) NC_000012.12:131841697:G:T Identity +NM_004771.4:c.131A>T NP_004762.2:p.Tyr44Phe NC_000011.10:102617054:T:A p.(Tyr44Phe) NC_000011.10:102617054:T:A p.(Tyr44Phe) NC_000011.10:102617054:T:A Identity +NM_024109.4:c.616G>C NP_077014.4:p.Gly206Arg NC_000016.10:8635227:G:C p.(Gly206Arg) NC_000016.10:8635227:G:C p.(Gly206Arg) NC_000016.10:8635227:G:C Identity +NM_001321154.2:c.739G>A NP_001308083.1:p.Ala247Thr NC_000002.12:171330679:C:T p.(Ala247Thr) NC_000002.12:171330679:C:T p.(Ala247Thr) NC_000002.12:171330679:C:T Identity +NM_032246.6:c.782C>T NP_115622.2:p.Pro261Leu NC_000015.10:82044087:G:A p.(Pro261Leu) NC_000015.10:82044087:G:A p.(Pro261Leu) NC_000015.10:82044087:G:A Identity +NM_002432.3:c.782T>C NP_002423.1:p.Val261Ala NC_000001.11:158845797:T:C p.(Val261Ala) NC_000001.11:158845797:T:C p.(Val261Ala) NC_000001.11:158845797:T:C Identity +NM_002432.3:c.847G>T NP_002423.1:p.Ala283Ser NC_000001.11:158845862:G:T p.(Ala283Ser) NC_000001.11:158845862:G:T p.(Ala283Ser) NC_000001.11:158845862:G:T Identity +NM_058165.3:c.28A>G NP_477513.2:p.Ile10Val NC_000002.12:222671812:A:G p.(Ile10Val) NC_000002.12:222671812:A:G p.(Ile10Val) NC_000002.12:222671812:A:G Identity +NM_001320445.2:c.2092A>G NP_001307374.1:p.Met698Val NC_000021.9:36369672:A:G p.(Met698Val) NC_000021.9:36369672:A:G p.(Met698Val) NC_000021.9:36369672:A:G Identity +NM_001324062.2:c.2026A>T NP_001310991.1:p.Arg676Trp NC_000001.11:222629245:A:T p.(Arg676Trp) NC_000001.11:222629245:A:T p.(Arg676Trp) NC_000001.11:222629245:A:T Identity +NM_015241.3:c.3035A>T NP_056056.2:p.Glu1012Val NC_000022.11:17831873:T:A p.(Glu1012Val) NC_000022.11:17831873:T:A p.(Glu1012Val) NC_000022.11:17831873:T:A Identity +NM_001410818.1:c.1088C>T NP_001397747.1:p.Pro363Leu NC_000022.11:37925665:C:T p.(Pro363Leu) NC_000022.11:37925665:C:T p.(Pro363Leu) NC_000022.11:37925665:C:T Identity +NM_182924.4:c.1336G>A NP_891554.1:p.Asp446Asn NC_000007.14:1444733:C:T p.(Asp446Asn) NC_000007.14:1444733:C:T p.(Asp446Asn) NC_000007.14:1444733:C:T Identity +NM_001077700.3:c.1029G>T NP_001071168.2:p.Glu343Asp NC_000001.11:66972918:G:T p.(Glu343Asp) NC_000001.11:66972918:G:T p.(Glu343Asp) NC_000001.11:66972918:G:T Identity +NM_001300867.2:c.2095G>A NP_001287796.1:p.Val699Ile NC_000001.11:222665355:G:A p.(Val699Ile) NC_000001.11:222665355:G:A p.(Val699Ile) NC_000001.11:222665355:G:A Identity +NM_182924.4:c.1710G>C NP_891554.1:p.Gln570His NC_000007.14:1442192:C:G p.(Gln570His) NC_000007.14:1442192:C:G p.(Gln570His) NC_000007.14:1442192:C:G Identity +NM_001382751.1:c.837G>T NP_001369680.1:p.Met279Ile NC_000023.11:107904037:G:T p.(Met279Ile) NC_000023.11:107904037:G:T p.(Met279Ile) NC_000023.11:107904037:G:T Identity +NM_002432.3:c.1007A>G NP_002423.1:p.Asn336Ser NC_000001.11:158847746:A:G p.(Asn336Ser) NC_000001.11:158847746:A:G p.(Asn336Ser) NC_000001.11:158847746:A:G Identity +NM_001278370.2:c.1664G>A NP_001265299.1:p.Arg555Gln NC_000017.11:43877936:C:T p.(Arg555Gln) NC_000017.11:43877936:C:T p.(Arg555Gln) NC_000017.11:43877936:C:T Identity +NM_001330233.2:c.980C>T NP_001317162.1:p.Ala327Val NC_000017.11:43818086:G:A p.(Ala327Val) NC_000017.11:43818086:G:A p.(Ala327Val) NC_000017.11:43818086:G:A Identity +NM_032222.3:c.359A>G NP_115598.2:p.Tyr120Cys NC_000007.14:30782151:A:G p.(Tyr120Cys) NC_000007.14:30782151:A:G p.(Tyr120Cys) NC_000007.14:30782151:A:G Identity +NM_001370076.1:c.2410A>C NP_001357005.1:p.Lys804Gln NC_000007.14:7605949:A:C p.(Lys804Gln) NC_000007.14:7605949:A:C p.(Lys804Gln) NC_000007.14:7605949:A:C Identity +NM_018353.5:c.2060A>C NP_060823.3:p.Gln687Pro NC_000014.9:45224526:T:G p.(Gln687Pro) NC_000014.9:45224526:T:G p.(Gln687Pro) NC_000014.9:45224526:T:G Identity +NM_001148.6:c.4567A>G NP_001139.3:p.Thr1523Ala NC_000004.12:113353184:A:G p.(Thr1523Ala) NC_000004.12:113353184:A:G p.(Thr1523Ala) NC_000004.12:113353184:A:G Identity +NM_001379228.1:c.19G>A NP_001366157.1:p.Ala7Thr NC_000021.9:32298989:G:A p.(Ala7Thr) NC_000021.9:32298989:G:A p.(Ala7Thr) NC_000021.9:32298989:G:A Identity +NM_001330347.2:c.1159G>C NP_001317276.1:p.Asp387His NC_000011.10:94464178:C:G p.(Asp387His) NC_000011.10:94464178:C:G p.(Asp387His) NC_000011.10:94464178:C:G Identity +NM_001330347.2:c.232T>G NP_001317276.1:p.Leu78Val NC_000011.10:94486005:A:C p.(Leu78Val) NC_000011.10:94486005:A:C p.(Leu78Val) NC_000011.10:94486005:A:C Identity +NM_145212.4:c.23T>G NP_660213.1:p.Val8Gly NC_000002.12:99186225:T:G p.(Val8Gly) NC_000002.12:99186225:T:G p.(Val8Gly) NC_000002.12:99186225:T:G Identity +NM_001040108.2:c.1228G>C NP_001035197.1:p.Ala410Pro NC_000014.9:75048427:C:G p.(Ala410Pro) NC_000014.9:75048427:C:G p.(Ala410Pro) NC_000014.9:75048427:C:G Identity +NM_001040108.2:c.285G>T NP_001035197.1:p.Glu95Asp NC_000014.9:75049370:C:A p.(Glu95Asp) NC_000014.9:75049370:C:A p.(Glu95Asp) NC_000014.9:75049370:C:A Identity +NM_002428.4:c.156T>A NP_002419.1:p.His52Gln NC_000016.10:58026505:T:A p.(His52Gln) NC_000016.10:58026505:T:A p.(His52Gln) NC_000016.10:58026505:T:A Identity +NM_002428.4:c.323G>A NP_002419.1:p.Arg108Gln NC_000016.10:58038276:G:A p.(Arg108Gln) NC_000016.10:58038276:G:A p.(Arg108Gln) NC_000016.10:58038276:G:A Identity +NM_002428.4:c.1394G>A NP_002419.1:p.Arg465His NC_000016.10:58043299:G:A p.(Arg465His) NC_000016.10:58043299:G:A p.(Arg465His) NC_000016.10:58043299:G:A Identity +NM_001042467.3:c.22T>C NP_001035932.1:p.Ser8Pro NC_000002.12:237493447:T:C p.(Ser8Pro) NC_000002.12:237493447:T:C p.(Ser8Pro) NC_000002.12:237493447:T:C Identity +NM_005940.5:c.718C>T NP_005931.2:p.Arg240Cys NC_000022.11:23780959:C:T p.(Arg240Cys) NC_000022.11:23780959:C:T p.(Arg240Cys) NC_000022.11:23780959:C:T Identity +NM_198923.2:c.845G>A NP_944605.2:p.Arg282Gln NC_000011.10:68980141:C:T p.(Arg282Gln) NC_000011.10:68980141:C:T p.(Arg282Gln) NC_000011.10:68980141:C:T Identity +NM_001303615.2:c.575T>C NP_001290544.1:p.Ile192Thr NC_000011.10:19055827:A:G p.(Ile192Thr) NC_000011.10:19055827:A:G p.(Ile192Thr) NC_000011.10:19055827:A:G Identity +NM_001330602.1:c.443A>G NP_001317531.1:p.Glu148Gly NC_000001.11:54205113:A:G p.(Glu148Gly) NC_000001.11:54205113:A:G p.(Glu148Gly) NC_000001.11:54205113:A:G Identity +NM_001300733.2:c.37C>G NP_001287662.1:p.Leu13Val NC_000001.11:151763442:G:C p.(Leu13Val) NC_000001.11:151763442:G:C p.(Leu13Val) NC_000001.11:151763442:G:C Identity +NM_001079692.3:c.1343T>A NP_001073160.1:p.Met448Lys NC_000011.10:60416361:T:A p.(Met448Lys) NC_000011.10:60416361:T:A p.(Met448Lys) NC_000011.10:60416361:T:A Identity +NM_130807.3:c.257A>C NP_570719.1:p.Gln86Pro NC_000019.10:2078303:T:G p.(Gln86Pro) NC_000019.10:2078303:T:G p.(Gln86Pro) NC_000019.10:2078303:T:G Identity +NM_001278469.3:c.4100T>C NP_001265398.1:p.Phe1367Ser NC_000012.12:62565303:T:C p.(Phe1367Ser) NC_000012.12:62565303:T:C p.(Phe1367Ser) NC_000012.12:62565303:T:C Identity +NM_024756.3:c.1249T>G NP_079032.2:p.Ser417Ala NC_000010.11:86943534:A:C p.(Ser417Ala) NC_000010.11:86943534:A:C p.(Ser417Ala) NC_000010.11:86943534:A:C Identity +NM_002430.3:c.3382G>A NP_002421.3:p.Gly1128Ser NC_000022.11:27797161:C:T p.(Gly1128Ser) NC_000022.11:27797161:C:T p.(Gly1128Ser) NC_000022.11:27797161:C:T Identity +NM_002432.3:c.22A>G NP_002423.1:p.Ile8Val NC_000001.11:158842174:A:G p.(Ile8Val) NC_000001.11:158842174:A:G p.(Ile8Val) NC_000001.11:158842174:A:G Identity +NM_020310.3:c.1595C>T NP_064706.1:p.Thr532Met NC_000017.11:2387054:G:A p.(Thr532Met) NC_000017.11:2387054:G:A p.(Thr532Met) NC_000017.11:2387054:G:A Identity +NM_001278322.2:c.88T>C NP_001265251.1:p.Phe30Leu NC_000003.12:39502156:T:C p.(Phe30Leu) NC_000003.12:39502156:T:C p.(Phe30Leu) NC_000003.12:39502156:T:C Identity +NM_001320445.2:c.1792C>T NP_001307374.1:p.Pro598Ser NC_000021.9:36369372:C:T p.(Pro598Ser) NC_000021.9:36369372:C:T p.(Pro598Ser) NC_000021.9:36369372:C:T Identity +NM_001321995.2:c.752A>C NP_001308924.1:p.Lys251Thr NC_000002.12:95090464:T:G p.(Lys251Thr) NC_000002.12:95090464:T:G p.(Lys251Thr) NC_000002.12:95090464:T:G Identity +NM_014391.3:c.950C>T NP_055206.2:p.Ala317Val NC_000010.11:90912875:G:A p.(Ala317Val) NC_000010.11:90912875:G:A p.(Ala317Val) NC_000010.11:90912875:G:A Identity +NM_002439.5:c.242C>T NP_002430.3:p.Thr81Ile NC_000005.10:80656414:C:T p.(Thr81Ile) NC_000005.10:80656414:C:T p.(Thr81Ile) NC_000005.10:80656414:C:T Identity +NM_001083625.3:c.3428C>G NP_001077094.1:p.Ser1143Cys NC_000018.10:9256763:C:G p.(Ser1143Cys) NC_000018.10:9256763:C:G p.(Ser1143Cys) NC_000018.10:9256763:C:G Identity +NM_000179.3:c.3578A>T NP_000170.1:p.Glu1193Val NC_000002.12:47805638:A:T p.(Glu1193Val) NC_000002.12:47805638:A:T p.(Glu1193Val) NC_000002.12:47805638:A:T Identity +NM_001278370.2:c.361C>T NP_001265299.1:p.Arg121Trp NC_000017.11:43883279:G:A p.(Arg121Trp) NC_000017.11:43883279:G:A p.(Arg121Trp) NC_000017.11:43883279:G:A Identity +NM_001194999.2:c.202C>T NP_001181928.1:p.Arg68Trp NC_000001.11:181049185:C:T p.(Arg68Trp) NC_000001.11:181049185:C:T p.(Arg68Trp) NC_000001.11:181049185:C:T Identity +NM_001282755.2:c.946C>T NP_001269684.1:p.Pro316Ser NC_000002.12:42704284:C:T p.(Pro316Ser) NC_000002.12:42704284:C:T p.(Pro316Ser) NC_000002.12:42704284:C:T Identity +NM_001317338.2:c.632C>T NP_001304267.1:p.Pro211Leu NC_000001.11:220762931:C:T p.(Pro211Leu) NC_000001.11:220762931:C:T p.(Pro211Leu) NC_000001.11:220762931:C:T Identity +NM_001354073.1:c.218A>G NP_001341002.1:p.Lys73Arg NC_000013.11:41260689:T:C p.(Lys73Arg) NC_000013.11:41260689:T:C p.(Lys73Arg) NC_000013.11:41260689:T:C Identity +NM_022061.4:c.164A>G NP_071344.1:p.Tyr55Cys NC_000011.10:6683132:T:C p.(Tyr55Cys) NC_000011.10:6683132:T:C p.(Tyr55Cys) NC_000011.10:6683132:T:C Identity +NM_031903.3:c.275G>A NP_114109.1:p.Cys92Tyr NC_000007.14:42935098:G:A p.(Cys92Tyr) NC_000007.14:42935098:G:A p.(Cys92Tyr) NC_000007.14:42935098:G:A Identity +NM_001164391.2:c.503C>T NP_001157863.1:p.Ala168Val NC_000001.11:93120559:C:T p.(Ala168Val) NC_000001.11:93120559:C:T p.(Ala168Val) NC_000001.11:93120559:C:T Identity +NM_138384.4:c.202C>A NP_612393.2:p.Leu68Met NC_000010.11:133396186:C:A p.(Leu68Met) NC_000010.11:133396186:C:A p.(Leu68Met) NC_000010.11:133396186:C:A Identity +NM_001384347.1:c.4G>A NP_001371276.1:p.Ala2Thr NC_000020.11:62193423:G:A p.(Ala2Thr) NC_000020.11:62193423:G:A p.(Ala2Thr) NC_000020.11:62193423:G:A Identity +NM_006636.4:c.229G>A NP_006627.2:p.Glu77Lys NC_000002.12:74205831:G:A p.(Glu77Lys) NC_000002.12:74205831:G:A p.(Glu77Lys) NC_000002.12:74205831:G:A Identity +NM_001282971.2:c.1936G>A NP_001269900.1:p.Glu646Lys NC_000008.11:124553335:C:T p.(Glu646Lys) NC_000008.11:124553335:C:T p.(Glu646Lys) NC_000008.11:124553335:C:T Identity +NM_001040105.2:c.2597C>T NP_001035194.1:p.Pro866Leu NC_000007.14:101034012:C:T p.(Pro866Leu) NC_000007.14:101034012:C:T p.(Pro866Leu) NC_000007.14:101034012:C:T Identity +NM_000139.5:c.478C>T NP_000130.1:p.His160Tyr NC_000011.10:60093498:C:T p.(His160Tyr) NC_000011.10:60093498:C:T p.(His160Tyr) NC_000011.10:60093498:C:T Identity +NM_031457.2:c.430G>A NP_113645.1:p.Val144Ile NC_000011.10:60708676:G:A p.(Val144Ile) NC_000011.10:60708676:G:A p.(Val144Ile) NC_000011.10:60708676:G:A Identity +NM_001308142.2:c.1418C>A NP_001295071.1:p.Thr473Asn NC_000016.10:14246677:C:A p.(Thr473Asn) NC_000016.10:14246677:C:A p.(Thr473Asn) NC_000016.10:14246677:C:A Identity +NM_002439.5:c.1436A>C NP_002430.3:p.Asp479Ala NC_000005.10:80725547:A:C p.(Asp479Ala) NC_000005.10:80725547:A:C p.(Asp479Ala) NC_000005.10:80725547:A:C Identity +NM_002458.3:c.13811C>T NP_002449.2:p.Thr4604Ile NC_000011.10:1250690:C:T p.(Thr4604Ile) NC_000011.10:1250690:C:T p.(Thr4604Ile) NC_000011.10:1250690:C:T Identity +NM_002458.3:c.5795C>T NP_002449.2:p.Thr1932Ile NC_000011.10:1242674:C:T p.(Thr1932Ile) NC_000011.10:1242674:C:T p.(Thr1932Ile) NC_000011.10:1242674:C:T Identity +NM_001254718.3:c.2800C>G NP_001241647.1:p.Pro934Ala NC_000012.12:101675302:C:G p.(Pro934Ala) NC_000012.12:101675302:C:G p.(Pro934Ala) NC_000012.12:101675302:C:G Identity +NM_002441.5:c.1429C>G NP_002432.1:p.His477Asp NC_000006.12:31759445:C:G p.(His477Asp) NC_000006.12:31759445:C:G p.(His477Asp) NC_000006.12:31759445:C:G Identity +NM_001363744.1:c.998G>A NP_001350673.1:p.Gly333Glu NC_000008.11:16150265:C:T p.(Gly333Glu) NC_000008.11:16150265:C:T p.(Gly333Glu) NC_000008.11:16150265:C:T Identity +NM_002440.4:c.1583G>A NP_002431.2:p.Arg528Lys NC_000001.11:75879033:G:A p.(Arg528Lys) NC_000001.11:75879033:G:A p.(Arg528Lys) NC_000001.11:75879033:G:A Identity +NM_002461.3:c.974C>T NP_002452.1:p.Ala325Val NC_000016.10:88654730:G:A p.(Ala325Val) NC_000016.10:88654730:G:A p.(Ala325Val) NC_000016.10:88654730:G:A Identity +NM_000431.4:c.368A>G NP_000422.1:p.Gln123Arg NC_000012.12:109579942:A:G p.(Gln123Arg) NC_000012.12:109579942:A:G p.(Gln123Arg) NC_000012.12:109579942:A:G Identity +NM_052997.3:c.3337A>G NP_443723.3:p.Met1113Val NC_000010.11:37219048:A:G p.(Met1113Val) NC_000010.11:37219048:A:G p.(Met1113Val) NC_000010.11:37219048:A:G Identity +NM_001080416.4:c.1852G>A NP_001073885.1:p.Ala618Thr NC_000008.11:66566781:C:T p.(Ala618Thr) NC_000008.11:66566781:C:T p.(Ala618Thr) NC_000008.11:66566781:C:T Identity +NM_001291218.2:c.1080T>A NP_001278147.1:p.Asn360Lys NC_000010.11:97582400:T:A p.(Asn360Lys) NC_000010.11:97582400:T:A p.(Asn360Lys) NC_000010.11:97582400:T:A Identity +NM_001040446.3:c.2173T>C NP_001035536.1:p.Trp725Arg NC_000005.10:32229848:A:G p.(Trp725Arg) NC_000005.10:32229848:A:G p.(Trp725Arg) NC_000005.10:32229848:A:G Identity +NM_001378066.1:c.2525C>T NP_001364995.1:p.Ser842Leu NC_000017.11:58495628:G:A p.(Ser842Leu) NC_000017.11:58495628:G:A p.(Ser842Leu) NC_000017.11:58495628:G:A Identity +NM_000257.4:c.596C>A NP_000248.2:p.Ala199Glu NC_000014.9:23431803:G:T p.(Ala199Glu) NC_000014.9:23431803:G:T p.(Ala199Glu) NC_000014.9:23431803:G:T Identity +NM_138403.5:c.622G>A NP_612412.2:p.Gly208Ser NC_000007.14:101613533:C:T p.(Gly208Ser) NC_000007.14:101613533:C:T p.(Gly208Ser) NC_000007.14:101613533:C:T Identity +NM_002472.3:c.1906G>T NP_002463.2:p.Ala636Ser NC_000017.11:10409155:C:A p.(Ala636Ser) NC_000017.11:10409155:C:A p.(Ala636Ser) NC_000017.11:10409155:C:A Identity +NM_001198950.3:c.475G>A NP_001185879.1:p.Asp159Asn NC_000013.11:108727550:G:A p.(Asp159Asn) NC_000013.11:108727550:G:A p.(Asp159Asn) NC_000013.11:108727550:G:A Identity +NM_001198950.3:c.1523G>A NP_001185879.1:p.Arg508Gln NC_000013.11:108883155:G:A p.(Arg508Gln) NC_000013.11:108883155:G:A p.(Arg508Gln) NC_000013.11:108883155:G:A Identity +NM_000254.3:c.1754G>A NP_000245.2:p.Arg585Gln NC_000001.11:236852578:G:A p.(Arg585Gln) NC_000001.11:236852578:G:A p.(Arg585Gln) NC_000001.11:236852578:G:A Identity +NM_001282971.2:c.703A>G NP_001269900.1:p.Met235Val NC_000008.11:124567105:T:C p.(Met235Val) NC_000008.11:124567105:T:C p.(Met235Val) NC_000008.11:124567105:T:C Identity +NM_138383.3:c.1241C>A NP_612392.1:p.Thr414Asn NC_000016.10:70664983:G:T p.(Thr414Asn) NC_000016.10:70664983:G:T p.(Thr414Asn) NC_000016.10:70664983:G:T Identity +NM_173595.4:c.2203G>A NP_775866.2:p.Asp735Asn NC_000012.12:56245577:C:T p.(Asp735Asn) NC_000012.12:56245577:C:T p.(Asp735Asn) NC_000012.12:56245577:C:T Identity +NM_001348355.2:c.418G>T NP_001335284.1:p.Val140Phe NC_000019.10:8553224:C:A p.(Val140Phe) NC_000019.10:8553224:C:A p.(Val140Phe) NC_000019.10:8553224:C:A Identity +NM_000260.4:c.1958T>C NP_000251.3:p.Val653Ala NC_000011.10:77174777:T:C p.(Val653Ala) NC_000011.10:77174777:T:C p.(Val653Ala) NC_000011.10:77174777:T:C Identity +NM_001349853.2:c.235C>T NP_001336782.1:p.Arg79Cys NC_000022.11:37838544:G:A p.(Arg79Cys) NC_000022.11:37838544:G:A p.(Arg79Cys) NC_000022.11:37838544:G:A Identity +NM_001048171.2:c.1279G>A NP_001041636.2:p.Val427Ile NC_000001.11:45331294:C:T p.(Val427Ile) NC_000001.11:45331294:C:T p.(Val427Ile) NC_000001.11:45331294:C:T Identity +NM_138401.4:c.226G>A NP_612410.1:p.Val76Met NC_000019.10:17420573:G:A p.(Val76Met) NC_000019.10:17420573:G:A p.(Val76Met) NC_000019.10:17420573:G:A Identity +NM_001008541.1:c.37C>G NP_001008541.1:p.Arg13Gly NC_000010.11:110228259:C:G p.(Arg13Gly) NC_000010.11:110228259:C:G p.(Arg13Gly) NC_000010.11:110228259:C:G Identity +NM_001105538.2:c.2111G>A NP_001099008.1:p.Arg704His NC_000017.11:4545307:C:T p.(Arg704His) NC_000017.11:4545307:C:T p.(Arg704His) NC_000017.11:4545307:C:T Identity +NM_000256.3:c.2133G>A NP_000247.2:p.Trp711Ter NC_000011.10:47339338:C:T p.(Trp711Ter) NC_000011.10:47339338:C:T p.(Trp711Ter) NC_000011.10:47339338:C:T Identity +NM_003803.4:c.714G>T NP_003794.3:p.Lys238Asn NC_000018.10:3188804:C:A p.(Lys238Asn) NC_000018.10:3188804:C:A p.(Lys238Asn) NC_000018.10:3188804:C:A Identity +NM_001135940.2:c.783C>A NP_001129412.1:p.Asn261Lys NC_000005.10:137887222:C:A p.(Asn261Lys) NC_000005.10:137887222:C:A p.(Asn261Lys) NC_000005.10:137887222:C:A Identity +NM_003970.4:c.660C>G NP_003961.3:p.Asp220Glu NC_000008.11:2069283:C:G p.(Asp220Glu) NC_000008.11:2069283:C:G p.(Asp220Glu) NC_000008.11:2069283:C:G Identity +NM_001162435.3:c.76A>C NP_001155907.3:p.Lys26Gln NC_000006.12:46752023:A:C p.(Lys26Gln) NC_000006.12:46752023:A:C p.(Lys26Gln) NC_000006.12:46752023:A:C Identity +NM_001256267.2:c.335G>A NP_001243196.1:p.Ser112Asn NC_000010.11:68121772:G:A p.(Ser112Asn) NC_000010.11:68121772:G:A p.(Ser112Asn) NC_000010.11:68121772:G:A Identity +NM_001256267.2:c.3314C>T NP_001243196.1:p.Thr1105Ile NC_000010.11:68199395:C:T p.(Thr1105Ile) NC_000010.11:68199395:C:T p.(Thr1105Ile) NC_000010.11:68199395:C:T Identity +NM_153029.4:c.1376G>A NP_694574.3:p.Arg459Lys NC_000016.10:48561266:C:T p.(Arg459Lys) NC_000016.10:48561266:C:T p.(Arg459Lys) NC_000016.10:48561266:C:T Identity +NM_001033081.3:c.871C>G NP_001028253.1:p.Arg291Gly NC_000001.11:39897595:G:C p.(Arg291Gly) NC_000001.11:39897595:G:C p.(Arg291Gly) NC_000001.11:39897595:G:C Identity +NM_001301210.2:c.542A>G NP_001288139.2:p.Asn181Ser NC_000015.10:48159787:T:C p.(Asn181Ser) NC_000015.10:48159787:T:C p.(Asn181Ser) NC_000015.10:48159787:T:C Identity +NM_005963.4:c.1326G>A NP_005954.3:p.Met442Ile NC_000017.11:10511928:C:T p.(Met442Ile) NC_000017.11:10511928:C:T p.(Met442Ile) NC_000017.11:10511928:C:T Identity +NM_001077186.2:c.3290T>C NP_001070654.1:p.Val1097Ala NC_000019.10:50272652:T:C p.(Val1097Ala) NC_000019.10:50272652:T:C p.(Val1097Ala) NC_000019.10:50272652:T:C Identity +NM_002470.4:c.3058T>A NP_002461.2:p.Ser1020Thr NC_000017.11:10639341:A:T p.(Ser1020Thr) NC_000017.11:10639341:A:T p.(Ser1020Thr) NC_000017.11:10639341:A:T Identity +NM_001200016.2:c.470T>C NP_001186945.1:p.Met157Thr NC_000003.12:50296993:A:G p.(Met157Thr) NC_000003.12:50296993:A:G p.(Met157Thr) NC_000003.12:50296993:A:G Identity +NM_001146334.2:c.283C>T NP_001139806.1:p.Leu95Phe NC_000007.14:45085896:G:A p.(Leu95Phe) NC_000007.14:45085896:G:A p.(Leu95Phe) NC_000007.14:45085896:G:A Identity +NM_138386.3:c.1172C>T NP_612395.2:p.Pro391Leu NC_000004.12:163129209:G:A p.(Pro391Leu) NC_000004.12:163129209:G:A p.(Pro391Leu) NC_000004.12:163129209:G:A Identity +NM_018946.4:c.113G>A NP_061819.2:p.Arg38His NC_000009.12:98056920:G:A p.(Arg38His) NC_000009.12:98056920:G:A p.(Arg38His) NC_000009.12:98056920:G:A Identity +NM_001410192.1:c.674C>G NP_001397121.1:p.Ala225Gly NC_000002.12:74214168:C:G p.(Ala225Gly) NC_000002.12:74214168:C:G p.(Ala225Gly) NC_000002.12:74214168:C:G Identity +NM_001128931.2:c.236C>T NP_001122403.1:p.Pro79Leu NC_000004.12:163166491:G:A p.(Pro79Leu) NC_000004.12:163166491:G:A p.(Pro79Leu) NC_000004.12:163166491:G:A Identity +NM_001321309.2:c.4540G>A NP_001308238.1:p.Asp1514Asn NC_000003.12:123629519:C:T p.(Asp1514Asn) NC_000003.12:123629519:C:T p.(Asp1514Asn) NC_000003.12:123629519:C:T Identity +NM_016239.4:c.7819C>T NP_057323.3:p.Pro2607Ser NC_000017.11:18151876:C:T p.(Pro2607Ser) NC_000017.11:18151876:C:T p.(Pro2607Ser) NC_000017.11:18151876:C:T Identity +NM_015909.4:c.1213C>G NP_056993.2:p.Arg405Gly NC_000002.12:15475814:G:C p.(Arg405Gly) NC_000002.12:15475814:G:C p.(Arg405Gly) NC_000002.12:15475814:G:C Identity +NM_001111018.2:c.428C>T NP_001104488.1:p.Pro143Leu NC_000011.10:19879976:C:T p.(Pro143Leu) NC_000011.10:19879976:C:T p.(Pro143Leu) NC_000011.10:19879976:C:T Identity +NM_001379245.1:c.5105C>G NP_001366174.1:p.Ser1702Cys NC_000013.11:35196049:C:G p.(Ser1702Cys) NC_000013.11:35196049:C:G p.(Ser1702Cys) NC_000013.11:35196049:C:G Identity +NM_001379245.1:c.1831A>G NP_001366174.1:p.Lys611Glu NC_000013.11:35109439:A:G p.(Lys611Glu) NC_000013.11:35109439:A:G p.(Lys611Glu) NC_000013.11:35109439:A:G Identity +NM_001114132.2:c.2222C>T NP_001107604.1:p.Thr741Ile NC_000002.12:203113120:C:T p.(Thr741Ile) NC_000002.12:203113120:C:T p.(Thr741Ile) NC_000002.12:203113120:C:T Identity +NM_022346.5:c.1435A>T NP_071741.2:p.Asn479Tyr NC_000004.12:17825018:A:T p.(Asn479Tyr) NC_000004.12:17825018:A:T p.(Asn479Tyr) NC_000004.12:17825018:A:T Identity +NM_001146276.3:c.266G>A NP_001139748.2:p.Gly89Asp NC_000003.12:172647986:C:T p.(Gly89Asp) NC_000003.12:172647986:C:T p.(Gly89Asp) NC_000003.12:172647986:C:T Identity +NM_001198950.3:c.1259T>C NP_001185879.1:p.Met420Thr NC_000013.11:108855452:T:C p.(Met420Thr) NC_000013.11:108855452:T:C p.(Met420Thr) NC_000013.11:108855452:T:C Identity +NM_001130158.3:c.940G>A NP_001123630.1:p.Gly314Ser NC_000002.12:191364183:G:A p.(Gly314Ser) NC_000002.12:191364183:G:A p.(Gly314Ser) NC_000002.12:191364183:G:A Identity +NM_000259.3:c.5448G>C NP_000250.3:p.Gln1816His NC_000015.10:52313815:C:G p.(Gln1816His) NC_000015.10:52313815:C:G p.(Gln1816His) NC_000015.10:52313815:C:G Identity +NM_018838.5:c.424A>G NP_061326.1:p.Thr142Ala NC_000012.12:94971453:T:C p.(Thr142Ala) NC_000012.12:94971453:T:C p.(Thr142Ala) NC_000012.12:94971453:T:C Identity +NM_001199957.2:c.86T>G NP_001186886.1:p.Phe29Cys NC_000003.12:179604900:T:G p.(Phe29Cys) NC_000003.12:179604900:T:G p.(Phe29Cys) NC_000003.12:179604900:T:G Identity +NM_001318051.2:c.295A>G NP_001304980.1:p.Met99Val NC_000005.10:53646349:A:G p.(Met99Val) NC_000005.10:53646349:A:G p.(Met99Val) NC_000005.10:53646349:A:G Identity +NM_030808.5:c.1004C>T NP_110435.1:p.Ser335Leu NC_000017.11:8466988:C:T p.(Ser335Leu) NC_000017.11:8466988:C:T p.(Ser335Leu) NC_000017.11:8466988:C:T Identity +NM_004548.3:c.68C>A NP_004539.1:p.Pro23His NC_000016.10:1959691:C:A p.(Pro23His) NC_000016.10:1959691:C:A p.(Pro23His) NC_000016.10:1959691:C:A Identity +NM_152372.4:c.1017C>A NP_689585.3:p.Asp339Glu NC_000001.11:24093019:G:T p.(Asp339Glu) NC_000001.11:24093019:G:T p.(Asp339Glu) NC_000001.11:24093019:G:T Identity +NM_001321881.2:c.66G>A NP_001308810.1:p.Met22Ile NC_000009.12:85942224:G:A p.(Met22Ile) NC_000009.12:85942224:G:A p.(Met22Ile) NC_000009.12:85942224:G:A Identity +NM_001242929.2:c.316G>A NP_001229858.1:p.Gly106Arg NC_000016.10:4714122:C:T p.(Gly106Arg) NC_000016.10:4714122:C:T p.(Gly106Arg) NC_000016.10:4714122:C:T Identity +NM_052876.4:c.898A>G NP_443108.1:p.Ile300Val NC_000019.10:13136104:A:G p.(Ile300Val) NC_000019.10:13136104:A:G p.(Ile300Val) NC_000019.10:13136104:A:G Identity +NM_001111018.2:c.3905C>T NP_001104488.1:p.Pro1302Leu NC_000011.10:20048921:C:T p.(Pro1302Leu) NC_000011.10:20048921:C:T p.(Pro1302Leu) NC_000011.10:20048921:C:T Identity +NM_001365116.2:c.3473T>A NP_001352045.1:p.Leu1158Gln NC_000003.12:46999345:T:A p.(Leu1158Gln) NC_000003.12:46999345:T:A p.(Leu1158Gln) NC_000003.12:46999345:T:A Identity +NM_001378092.1:c.401G>T NP_001365021.1:p.Arg134Leu NC_000011.10:70087920:G:T p.(Arg134Leu) NC_000011.10:70087920:G:T p.(Arg134Leu) NC_000011.10:70087920:G:T Identity +NM_000433.4:c.307G>A NP_000424.2:p.Gly103Arg NC_000001.11:183577657:C:T p.(Gly103Arg) NC_000001.11:183577657:C:T p.(Gly103Arg) NC_000001.11:183577657:C:T Identity +NM_001174088.2:c.3626A>G NP_001167559.1:p.Gln1209Arg NC_000020.11:47650982:A:G p.(Gln1209Arg) NC_000020.11:47650982:A:G p.(Gln1209Arg) NC_000020.11:47650982:A:G Identity +NM_022569.3:c.1430G>A NP_072091.1:p.Gly477Glu NC_000004.12:114935311:C:T p.(Gly477Glu) NC_000004.12:114935311:C:T p.(Gly477Glu) NC_000004.12:114935311:C:T Identity +NM_001001503.2:c.38G>A NP_001001503.1:p.Gly13Glu NC_000021.9:42893370:G:A p.(Gly13Glu) NC_000021.9:42893370:G:A p.(Gly13Glu) NC_000021.9:42893370:G:A Identity +NM_001010909.5:c.1451C>A NP_001010909.2:p.Thr484Asn NC_000006.12:30987625:C:A p.(Thr484Asn) NC_000006.12:30987625:C:A p.(Thr484Asn) NC_000006.12:30987625:C:A Identity +NM_001198815.1:c.3962C>T NP_001185744.1:p.Thr1321Met NC_000006.12:31029392:C:T p.(Thr1321Met) NC_000006.12:31029392:C:T p.(Thr1321Met) NC_000006.12:31029392:C:T Identity +NM_002458.3:c.2639G>C NP_002449.2:p.Arg880Thr NC_000011.10:1235092:G:C p.(Arg880Thr) NC_000011.10:1235092:G:C p.(Arg880Thr) NC_000011.10:1235092:G:C Identity +NM_002458.3:c.1106C>T NP_002449.2:p.Thr369Met NC_000011.10:1229692:C:T p.(Thr369Met) NC_000011.10:1229692:C:T p.(Thr369Met) NC_000011.10:1229692:C:T Identity +NM_014981.3:c.3329T>C NP_055796.2:p.Leu1110Ser NC_000003.12:108428864:A:G p.(Leu1110Ser) NC_000003.12:108428864:A:G p.(Leu1110Ser) NC_000003.12:108428864:A:G Identity +NM_001198950.3:c.5236G>T NP_001185879.1:p.Asp1746Tyr NC_000013.11:109164971:G:T p.(Asp1746Tyr) NC_000013.11:109164971:G:T p.(Asp1746Tyr) NC_000013.11:109164971:G:T Identity +NM_001256041.2:c.960G>T NP_001242970.1:p.Arg320Ser NC_000012.12:57043290:C:A p.(Arg320Ser) NC_000012.12:57043290:C:A p.(Arg320Ser) NC_000012.12:57043290:C:A Identity +NM_001242809.2:c.128G>A NP_001229738.1:p.Arg43Gln NC_000006.12:89595922:G:A p.(Arg43Gln) NC_000006.12:89595922:G:A p.(Arg43Gln) NC_000006.12:89595922:G:A Identity +NM_003970.4:c.1594G>A NP_003961.3:p.Glu532Lys NC_000008.11:2085339:G:A p.(Glu532Lys) NC_000008.11:2085339:G:A p.(Glu532Lys) NC_000008.11:2085339:G:A Identity +NM_152372.4:c.1684G>T NP_689585.3:p.Val562Phe NC_000001.11:24086757:C:A p.(Val562Phe) NC_000001.11:24086757:C:A p.(Val562Phe) NC_000001.11:24086757:C:A Identity +NM_001012643.4:c.877G>T NP_001012661.1:p.Ala293Ser NC_000019.10:45890945:C:A p.(Ala293Ser) NC_000019.10:45890945:C:A p.(Ala293Ser) NC_000019.10:45890945:C:A Identity +NM_001080396.3:c.503T>C NP_001073865.1:p.Leu168Pro NC_000013.11:107866093:A:G p.(Leu168Pro) NC_000013.11:107866093:A:G p.(Leu168Pro) NC_000013.11:107866093:A:G Identity +NM_015686.3:c.98C>G NP_056501.2:p.Pro33Arg NC_000023.11:69505379:C:G p.(Pro33Arg) NC_000023.11:69505379:C:G p.(Pro33Arg) NC_000023.11:69505379:C:G Identity +NM_001037806.4:c.1678C>A NP_001032895.2:p.Leu560Met NC_000012.12:49796181:G:T p.(Leu560Met) NC_000012.12:49796181:G:T p.(Leu560Met) NC_000012.12:49796181:G:T Identity +NM_024574.4:c.1462A>G NP_078850.3:p.Asn488Asp NC_000004.12:121036508:T:C p.(Asn488Asp) NC_000004.12:121036508:T:C p.(Asn488Asp) NC_000004.12:121036508:T:C Identity +NM_022477.4:c.559T>G NP_071922.2:p.Leu187Val NC_000020.11:36666385:A:C p.(Leu187Val) NC_000020.11:36666385:A:C p.(Leu187Val) NC_000020.11:36666385:A:C Identity +NM_002493.5:c.194A>G NP_002484.1:p.Tyr65Cys NC_000009.12:32571038:T:C p.(Tyr65Cys) NC_000009.12:32571038:T:C p.(Tyr65Cys) NC_000009.12:32571038:T:C Identity +NM_006393.3:c.1156A>G NP_006384.1:p.Arg386Gly NC_000010.11:20845328:T:C p.(Arg386Gly) NC_000010.11:20845328:T:C p.(Arg386Gly) NC_000010.11:20845328:T:C Identity +NM_000268.4:c.756del NP_000259.1:p.Lys253fs NC_000022.11:29661280:CCCCC:CCCC p.(Lys253ArgfsTer43) NC_000022.11:29661280:CCCCC:CCCC p.(Lys253ArgfsTer43) NC_000022.11:29661284:C: Analogous +NM_178170.3:c.2065C>T NP_835464.1:p.Pro689Ser NC_000017.11:28741972:C:T p.(Pro689Ser) NC_000017.11:28741972:C:T p.(Pro689Ser) NC_000017.11:28741972:C:T Identity +NM_001201465.3:c.1558T>C NP_001188394.2:p.Ser520Pro NC_000018.10:72749071:A:G p.(Ser520Pro) NC_000018.10:72749071:A:G p.(Ser520Pro) NC_000018.10:72749071:A:G Identity +NM_000268.4:c.478dup NP_000259.1:p.Arg160fs NC_000022.11:29654686:C:CC p.(Arg160ProfsTer43) NC_000022.11:29654686:C:CC p.(Arg160ProfsTer43) ERR:SPDI Analogous +NM_001146003.2:c.298G>C NP_001139475.1:p.Glu100Gln NC_000003.12:131080549:G:C p.(Glu100Gln) NC_000003.12:131080549:G:C p.(Glu100Gln) NC_000003.12:131080549:G:C Identity +NM_000268.4:c.1162G>A NP_000259.1:p.Ala388Thr NC_000022.11:29673307:G:A p.(Ala388Thr) NC_000022.11:29673307:G:A p.(Ala388Thr) NC_000022.11:29673307:G:A Identity +NM_001278669.2:c.2603G>A NP_001265598.1:p.Cys868Tyr NC_000018.10:79486757:G:A p.(Cys868Tyr) NC_000018.10:79486757:G:A p.(Cys868Tyr) NC_000018.10:79486757:G:A Identity +NM_004289.7:c.1793G>A NP_004280.5:p.Arg598His NC_000007.14:26185490:G:A p.(Arg598His) NC_000007.14:26185490:G:A p.(Arg598His) NC_000007.14:26185490:G:A Identity +NM_001289999.2:c.830C>T NP_001276928.1:p.Thr277Ile NC_000009.12:91409904:G:A p.(Thr277Ile) NC_000009.12:91409904:G:A p.(Thr277Ile) NC_000009.12:91409904:G:A Identity +NM_001278623.1:c.2509A>T NP_001265552.1:p.Ile837Leu NC_000004.12:47851147:T:A p.(Ile837Leu) NC_000004.12:47851147:T:A p.(Ile837Leu) NC_000004.12:47851147:T:A Identity +NM_001198972.2:c.2782G>A NP_001185901.1:p.Val928Met NC_000001.11:32772137:G:A p.(Val928Met) NC_000001.11:32772137:G:A p.(Val928Met) NC_000001.11:32772137:G:A Identity +NM_001168468.2:c.767C>T NP_001161940.1:p.Ala256Val NC_000011.10:119188048:C:T p.(Ala256Val) NC_000011.10:119188048:C:T p.(Ala256Val) NC_000011.10:119188048:C:T Identity +NM_001245002.2:c.307G>T NP_001231931.1:p.Gly103Cys NC_000019.10:3381987:G:T p.(Gly103Cys) NC_000019.10:3381987:G:T p.(Gly103Cys) NC_000019.10:3381987:G:T Identity +NM_001002755.4:c.727G>A NP_001002755.1:p.Asp243Asn NC_000002.12:69396283:C:T p.(Asp243Asn) NC_000002.12:69396283:C:T p.(Asp243Asn) NC_000002.12:69396283:C:T Identity +NM_005139.3:c.104G>T NP_005130.1:p.Gly35Val NC_000004.12:78579026:G:T p.(Gly35Val) NC_000004.12:78579026:G:T p.(Gly35Val) NC_000004.12:78579026:G:T Identity +NM_001136021.3:c.2402G>A NP_001129493.1:p.Arg801His NC_000020.11:51432326:C:T p.(Arg801His) NC_000020.11:51432326:C:T p.(Arg801His) NC_000020.11:51432326:C:T Identity +NM_001012754.4:c.684G>T NP_001012772.1:p.Trp228Cys NC_000013.11:39047044:G:T p.(Trp228Cys) NC_000013.11:39047044:G:T p.(Trp228Cys) NC_000013.11:39047044:G:T Identity +NM_207330.3:c.770T>G NP_997213.1:p.Leu257Arg NC_000004.12:48035708:T:G p.(Leu257Arg) NC_000004.12:48035708:T:G p.(Leu257Arg) NC_000004.12:48035708:T:G Identity +NM_032390.5:c.364C>T NP_115766.3:p.Pro122Ser NC_000002.12:121731092:G:A p.(Pro122Ser) NC_000002.12:121731092:G:A p.(Pro122Ser) NC_000002.12:121731092:G:A Identity +NM_020202.5:c.583C>T NP_064587.1:p.Arg195Trp NC_000003.12:100348879:C:T p.(Arg195Trp) NC_000003.12:100348879:C:T p.(Arg195Trp) NC_000003.12:100348879:C:T Identity +NM_005601.4:c.209T>C NP_005592.1:p.Leu70Pro NC_000019.10:51372255:A:G p.(Leu70Pro) NC_000019.10:51372255:A:G p.(Leu70Pro) NC_000019.10:51372255:A:G Identity +NM_001154.4:c.803C>G NP_001145.1:p.Thr268Ser NC_000004.12:121669701:G:C p.(Thr268Ser) NC_000004.12:121669701:G:C p.(Thr268Ser) NC_000004.12:121669701:G:C Identity +NM_001098524.2:c.1247C>A NP_001091994.2:p.Thr416Lys NC_000019.10:17540565:C:A p.(Thr416Lys) NC_000019.10:17540565:C:A p.(Thr416Lys) NC_000019.10:17540565:C:A Identity +NM_001177506.2:c.1276G>A NP_001170977.1:p.Asp426Asn NC_000007.14:36540348:C:T p.(Asp426Asn) NC_000007.14:36540348:C:T p.(Asp426Asn) NC_000007.14:36540348:C:T Identity +NM_052966.4:c.1946C>T NP_443198.1:p.Pro649Leu NC_000001.11:184795817:G:A p.(Pro649Leu) NC_000001.11:184795817:G:A p.(Pro649Leu) NC_000001.11:184795817:G:A Identity +NM_001318226.2:c.481A>G NP_001305155.1:p.Thr161Ala NC_000020.11:25510709:T:C p.(Thr161Ala) NC_000020.11:25510709:T:C p.(Thr161Ala) NC_000020.11:25510709:T:C Identity +NM_001377351.1:c.56C>T NP_001364280.1:p.Ala19Val NC_000003.12:23910848:G:A p.(Ala19Val) NC_000003.12:23910848:G:A p.(Ala19Val) NC_000003.12:23910848:G:A Identity +NM_178844.4:c.731C>T NP_849172.2:p.Pro244Leu NC_000016.10:3564205:G:A p.(Pro244Leu) NC_000016.10:3564205:G:A p.(Pro244Leu) NC_000016.10:3564205:G:A Identity +NM_001384953.1:c.644C>G NP_001371882.1:p.Thr215Ser NC_000016.10:57025586:C:G p.(Thr215Ser) NC_000016.10:57025586:C:G p.(Thr215Ser) NC_000016.10:57025586:C:G Identity +NM_001276700.2:c.1048T>C NP_001263629.1:p.Ser350Pro NC_000011.10:280781:T:C p.(Ser350Pro) NC_000011.10:280781:T:C p.(Ser350Pro) NC_000011.10:280781:T:C Identity +NM_001079668.3:c.349T>G NP_001073136.1:p.Cys117Gly NC_000014.9:36519098:A:C p.(Cys117Gly) NC_000014.9:36519098:A:C p.(Cys117Gly) NC_000014.9:36519098:A:C Identity +NM_020795.4:c.2474C>T NP_065846.1:p.Thr825Met NC_000017.11:7417764:C:T p.(Thr825Met) NC_000017.11:7417764:C:T p.(Thr825Met) NC_000017.11:7417764:C:T Identity +NM_001297743.3:c.1768C>T NP_001284672.1:p.Arg590Trp NC_000019.10:55801677:G:A p.(Arg590Trp) NC_000019.10:55801677:G:A p.(Arg590Trp) NC_000019.10:55801677:G:A Identity +NM_001158.5:c.1190A>G NP_001149.2:p.Asp397Gly NC_000017.11:42845815:A:G p.(Asp397Gly) NC_000017.11:42845815:A:G p.(Asp397Gly) NC_000017.11:42845815:A:G Identity +NM_001414688.1:c.661C>T NP_001401617.1:p.Arg221Cys NC_000012.12:132147936:C:T p.(Arg221Cys) NC_000012.12:132147936:C:T p.(Arg221Cys) NC_000012.12:132147936:C:T Identity +NM_001185057.3:c.420G>A NP_001171986.1:p.Arg140= NC_000016.10:67174754:G:A p.(Arg140=) NC_000016.10:67174754:G:A p.(Arg140=) NC_000016.10:67174754:G:A Identity +NM_014287.4:c.2489T>C NP_055102.3:p.Val830Ala NC_000016.10:14876490:T:C p.(Val830Ala) NC_000016.10:14876490:T:C p.(Val830Ala) NC_000016.10:14876490:T:C Identity +NM_001282474.2:c.713A>C NP_001269403.1:p.Gln238Pro NC_000014.9:23561512:T:G p.(Gln238Pro) NC_000014.9:23561512:T:G p.(Gln238Pro) NC_000014.9:23561512:T:G Identity +NM_015710.5:c.167T>C NP_056525.2:p.Leu56Pro NC_000019.10:47745725:T:C p.(Leu56Pro) NC_000019.10:47745725:T:C p.(Leu56Pro) NC_000019.10:47745725:T:C Identity +NM_001331026.2:c.227C>A NP_001317955.1:p.Ala76Glu NC_000005.10:43619051:C:A p.(Ala76Glu) NC_000005.10:43619051:C:A p.(Ala76Glu) NC_000005.10:43619051:C:A Identity +NM_032313.4:c.537C>G NP_115689.1:p.Cys179Trp NC_000004.12:56977048:G:C p.(Cys179Trp) NC_000004.12:56977048:G:C p.(Cys179Trp) NC_000004.12:56977048:G:C Identity +NM_001080413.3:c.326G>C NP_001073882.3:p.Gly109Ala NC_000007.14:144401563:C:G p.(Gly109Ala) NC_000007.14:144401563:C:G p.(Gly109Ala) NC_000007.14:144401563:C:G Identity +NM_001353366.2:c.997T>C NP_001340295.1:p.Cys333Arg NC_000007.14:156952479:T:C p.(Cys333Arg) NC_000007.14:156952479:T:C p.(Cys333Arg) NC_000007.14:156952479:T:C Identity +NM_001136271.3:c.100G>A NP_001129743.2:p.Val34Met NC_000008.11:23706498:C:T p.(Val34Met) NC_000008.11:23706498:C:T p.(Val34Met) NC_000008.11:23706498:C:T Identity +NM_001277126.2:c.661A>T NP_001264055.1:p.Ile221Leu NC_000019.10:53810997:T:A p.(Ile221Leu) NC_000019.10:53810997:T:A p.(Ile221Leu) NC_000019.10:53810997:T:A Identity +NM_176822.4:c.502G>A NP_789792.1:p.Val168Met NC_000011.10:7042527:G:A p.(Val168Met) NC_000011.10:7042527:G:A p.(Val168Met) NC_000011.10:7042527:G:A Identity +NM_176820.4:c.2731G>A NP_789790.2:p.Ala911Thr NC_000019.10:55711911:C:T p.(Ala911Thr) NC_000019.10:55711911:C:T p.(Ala911Thr) NC_000019.10:55711911:C:T Identity +NM_000435.3:c.6377C>T NP_000426.2:p.Pro2126Leu NC_000019.10:15161250:G:A p.(Pro2126Leu) NC_000019.10:15161250:G:A p.(Pro2126Leu) NC_000019.10:15161250:G:A Identity +NM_001256067.2:c.808C>T NP_001242996.1:p.Pro270Ser NC_000009.12:137433031:C:T p.(Pro270Ser) NC_000009.12:137433031:C:T p.(Pro270Ser) NC_000009.12:137433031:C:T Identity +NM_000625.4:c.1493C>A NP_000616.3:p.Thr498Asn NC_000017.11:27773226:G:T p.(Thr498Asn) NC_000017.11:27773226:G:T p.(Thr498Asn) NC_000017.11:27773226:G:T Identity +NM_000435.3:c.6286T>C NP_000426.2:p.Ser2096Pro NC_000019.10:15161341:A:G p.(Ser2096Pro) NC_000019.10:15161341:A:G p.(Ser2096Pro) NC_000019.10:15161341:A:G Identity +NM_018958.3:c.1277T>G NP_061831.2:p.Ile426Ser NC_000015.10:24677143:T:G p.(Ile426Ser) NC_000015.10:24677143:T:G p.(Ile426Ser) NC_000015.10:24677143:T:G Identity +NM_018958.3:c.1881A>G NP_061831.2:p.Ile627Met NC_000015.10:24677747:A:G p.(Ile627Met) NC_000015.10:24677747:A:G p.(Ile627Met) NC_000015.10:24677747:A:G Identity +NM_018958.3:c.3002C>T NP_061831.2:p.Thr1001Ile NC_000015.10:24678868:C:T p.(Thr1001Ile) NC_000015.10:24678868:C:T p.(Thr1001Ile) NC_000015.10:24678868:C:T Identity +NM_002518.4:c.1787G>A NP_002509.2:p.Ser596Asn NC_000002.12:100988235:G:A p.(Ser596Asn) NC_000002.12:100988235:G:A p.(Ser596Asn) NC_000002.12:100988235:G:A Identity +NM_017617.5:c.4682G>C NP_060087.3:p.Cys1561Ser NC_000009.12:136505008:C:G p.(Cys1561Ser) NC_000009.12:136505008:C:G p.(Cys1561Ser) NC_000009.12:136505008:C:G Identity +NM_004557.4:c.3998G>C NP_004548.3:p.Arg1333Pro NC_000006.12:32201257:C:G p.(Arg1333Pro) NC_000006.12:32201257:C:G p.(Arg1333Pro) NC_000006.12:32201257:C:G Identity +NM_001366559.1:c.1275C>T NP_001353488.1:p.Asp425= NC_000012.12:53507101:G:A p.(Asp425=) NC_000012.12:53507101:G:A p.(Asp425=) NC_000012.12:53507101:G:A Identity +NM_001033047.3:c.1420C>T NP_001028219.1:p.Arg474Cys NC_000004.12:105967261:C:T p.(Arg474Cys) NC_000004.12:105967261:C:T p.(Arg474Cys) NC_000004.12:105967261:C:T Identity +NM_005285.5:c.477C>A NP_005276.2:p.Ser159Arg NC_000008.11:52940383:C:A p.(Ser159Arg) NC_000008.11:52940383:C:A p.(Ser159Arg) NC_000008.11:52940383:C:A Identity +NM_001101648.2:c.2950G>A NP_001095118.1:p.Val984Ile NC_000007.14:44521714:C:T p.(Val984Ile) NC_000007.14:44521714:C:T p.(Val984Ile) NC_000007.14:44521714:C:T Identity +NM_001321307.1:c.1877G>T NP_001308236.1:p.Gly626Val NC_000011.10:108173106:C:A p.(Gly626Val) NC_000011.10:108173106:C:A p.(Gly626Val) NC_000011.10:108173106:C:A Identity +NM_001321307.1:c.2181C>G NP_001308236.1:p.Asn727Lys NC_000011.10:108172802:G:C p.(Asn727Lys) NC_000011.10:108172802:G:C p.(Asn727Lys) NC_000011.10:108172802:G:C Identity +NM_000908.4:c.799A>C NP_000899.1:p.Ile267Leu NC_000005.10:32724726:A:C p.(Ile267Leu) NC_000005.10:32724726:A:C p.(Ile267Leu) NC_000005.10:32724726:A:C Identity +NM_002522.4:c.205A>C NP_002513.2:p.Lys69Gln NC_000017.11:80476241:T:G p.(Lys69Gln) NC_000017.11:80476241:T:G p.(Lys69Gln) NC_000017.11:80476241:T:G Identity +NM_000901.5:c.1654C>T NP_000892.2:p.Pro552Ser NC_000004.12:148435206:G:A p.(Pro552Ser) NC_000004.12:148435206:G:A p.(Pro552Ser) NC_000004.12:148435206:G:A Identity +NM_001145425.2:c.1A>G NP_001138897.1:p.Met1Val NC_000003.12:23954745:A:G p.(Met1Val) NC_000003.12:23954745:A:G p.Met1? NC_000003.12:23954745:A:G Identity +NM_001039724.4:c.978G>A NP_001034813.2:p.Met326Ile NC_000002.12:168856702:G:A p.(Met326Ile) NC_000002.12:168856702:G:A p.(Met326Ile) NC_000002.12:168856702:G:A Identity +NM_001252127.2:c.2003A>G NP_001239056.1:p.Gln668Arg NC_000015.10:50993506:A:G p.(Gln668Arg) NC_000015.10:50993506:A:G p.(Gln668Arg) NC_000015.10:50993506:A:G Identity +NM_014249.4:c.476G>A NP_055064.1:p.Gly159Asp NC_000015.10:71812080:G:A p.(Gly159Asp) NC_000015.10:71812080:G:A p.(Gly159Asp) NC_000015.10:71812080:G:A Identity +NM_001105250.3:c.476T>A NP_001098720.1:p.Ile159Asn NC_000014.9:79663823:T:A p.(Ile159Asn) NC_000014.9:79663823:T:A p.(Ile159Asn) NC_000014.9:79663823:T:A Identity +NM_138368.5:c.1780G>A NP_612377.4:p.Asp594Asn NC_000011.10:65778712:C:T p.(Asp594Asn) NC_000011.10:65778712:C:T p.(Asp594Asn) NC_000011.10:65778712:C:T Identity +NM_001204813.2:c.326G>T NP_001191742.1:p.Arg109Leu NC_000006.12:85450464:G:T p.(Arg109Leu) NC_000006.12:85450464:G:T p.(Arg109Leu) NC_000006.12:85450464:G:T Identity +NM_138368.5:c.512T>G NP_612377.4:p.Leu171Trp NC_000011.10:65779980:A:C p.(Leu171Trp) NC_000011.10:65779980:A:C p.(Leu171Trp) NC_000011.10:65779980:A:C Identity +NM_005286.4:c.982C>T NP_005277.2:p.Arg328Cys NC_000020.11:64105849:G:A p.(Arg328Cys) NC_000020.11:64105849:G:A p.(Arg328Cys) NC_000020.11:64105849:G:A Identity +NM_000908.4:c.714G>T NP_000899.1:p.Glu238Asp NC_000005.10:32712489:G:T p.(Glu238Asp) NC_000005.10:32712489:G:T p.(Glu238Asp) NC_000005.10:32712489:G:T Identity +NM_015354.3:c.4997C>T NP_056169.1:p.Ala1666Val NC_000009.12:129006291:C:T p.(Ala1666Val) NC_000009.12:129006291:C:T p.(Ala1666Val) NC_000009.12:129006291:C:T Identity +NM_024923.4:c.2135G>A NP_079199.2:p.Cys712Tyr NC_000003.12:13360288:C:T p.(Cys712Tyr) NC_000003.12:13360288:C:T p.(Cys712Tyr) NC_000003.12:13360288:C:T Identity +NM_001351115.2:c.994C>T NP_001338044.1:p.Pro332Ser NC_000010.11:18551896:G:A p.(Pro332Ser) NC_000010.11:18551896:G:A p.(Pro332Ser) NC_000010.11:18551896:G:A Identity +NM_145807.4:c.494G>A NP_665806.1:p.Arg165His NC_000019.10:48670492:C:T p.(Arg165His) NC_000019.10:48670492:C:T p.(Arg165His) NC_000019.10:48670492:C:T Identity +NM_015332.4:c.907G>A NP_056147.2:p.Ala303Thr NC_000007.14:44392364:C:T p.(Ala303Thr) NC_000007.14:44392364:C:T p.(Ala303Thr) NC_000007.14:44392364:C:T Identity +NM_007083.5:c.106G>C NP_009014.2:p.Val36Leu NC_000004.12:122922466:C:G p.(Val36Leu) NC_000004.12:122922466:C:G p.(Val36Leu) NC_000004.12:122922466:C:G Identity +NM_018230.3:c.3041C>T NP_060700.2:p.Ala1014Val NC_000001.11:229452582:G:A p.(Ala1014Val) NC_000001.11:229452582:G:A p.(Ala1014Val) NC_000001.11:229452582:G:A Identity +NM_024923.4:c.2263G>A NP_079199.2:p.Ala755Thr NC_000003.12:13358286:C:T p.(Ala755Thr) NC_000003.12:13358286:C:T p.(Ala755Thr) NC_000003.12:13358286:C:T Identity +NM_024923.4:c.500C>T NP_079199.2:p.Ala167Val NC_000003.12:13391243:G:A p.(Ala167Val) NC_000003.12:13391243:G:A p.(Ala167Val) NC_000003.12:13391243:G:A Identity +NM_001318324.2:c.2500A>G NP_001305253.1:p.Lys834Glu NC_000009.12:131159475:A:G p.(Lys834Glu) NC_000009.12:131159475:A:G p.(Lys834Glu) NC_000009.12:131159475:A:G Identity +NM_001253852.3:c.742A>G NP_001240781.1:p.Ser248Gly NC_000001.11:113900275:T:C p.(Ser248Gly) NC_000001.11:113900275:T:C p.(Ser248Gly) NC_000001.11:113900275:T:C Identity +NM_001040110.2:c.115A>G NP_001035199.1:p.Ser39Gly NC_000007.14:129657465:A:G p.(Ser39Gly) NC_000007.14:129657465:A:G p.(Ser39Gly) NC_000007.14:129657465:A:G Identity +NM_198465.4:c.1065G>C NP_940867.2:p.Gln355His NC_000023.11:105908282:G:C p.(Gln355His) NC_000023.11:105908282:G:C p.(Gln355His) NC_000023.11:105908282:G:C Identity +NM_001024628.3:c.1205G>A NP_001019799.2:p.Arg402Gln NC_000010.11:33221795:C:T p.(Arg402Gln) NC_000010.11:33221795:C:T p.(Arg402Gln) NC_000010.11:33221795:C:T Identity +NM_001128211.2:c.622A>G NP_001121683.1:p.Ile208Val NC_000008.11:109289864:T:C p.(Ile208Val) NC_000008.11:109289864:T:C p.(Ile208Val) NC_000008.11:109289864:T:C Identity +NM_020772.3:c.1232C>A NP_065823.1:p.Ser411Tyr NC_000017.11:29286761:G:T p.(Ser411Tyr) NC_000017.11:29286761:G:T p.(Ser411Tyr) NC_000017.11:29286761:G:T Identity +NM_198887.3:c.778C>T NP_942590.1:p.His260Tyr NC_000006.12:149736482:G:A p.(His260Tyr) NC_000006.12:149736482:G:A p.(His260Tyr) NC_000006.12:149736482:G:A Identity +NM_001170741.3:c.2210G>A NP_001164212.1:p.Arg737Gln NC_000009.12:96939132:G:A p.(Arg737Gln) NC_000009.12:96939132:G:A p.(Arg737Gln) NC_000009.12:96939132:G:A Identity +NM_001367953.1:c.1195A>G NP_001354882.1:p.Lys399Glu NC_000011.10:114522416:T:C p.(Lys399Glu) NC_000011.10:114522416:T:C p.(Lys399Glu) NC_000011.10:114522416:T:C Identity +NM_001077639.2:c.124T>G NP_001071107.1:p.Ser42Ala NC_000011.10:114582993:A:C p.(Ser42Ala) NC_000011.10:114582993:A:C p.(Ser42Ala) NC_000011.10:114582993:A:C Identity +NM_001098623.2:c.14185G>A NP_001092093.2:p.Glu4729Lys NC_000001.11:228318936:G:A p.(Glu4729Lys) NC_000001.11:228318936:G:A p.(Glu4729Lys) NC_000001.11:228318936:G:A Identity +NM_001284292.2:c.370G>T NP_001271221.2:p.Gly124Trp NC_000015.10:34348237:G:T p.(Gly124Trp) NC_000015.10:34348237:G:T p.(Gly124Trp) NC_000015.10:34348237:G:T Identity +NM_007224.4:c.822C>A NP_009155.1:p.Phe274Leu NC_000012.12:57225641:C:A p.(Phe274Leu) NC_000012.12:57225641:C:A p.(Phe274Leu) NC_000012.12:57225641:C:A Identity +NM_001098623.2:c.14509G>T NP_001092093.2:p.Ala4837Ser NC_000001.11:228321349:G:T p.(Ala4837Ser) NC_000001.11:228321349:G:T p.(Ala4837Ser) NC_000001.11:228321349:G:T Identity +NM_001098623.2:c.14573C>T NP_001092093.2:p.Pro4858Leu NC_000001.11:228321413:C:T p.(Pro4858Leu) NC_000001.11:228321413:C:T p.(Pro4858Leu) NC_000001.11:228321413:C:T Identity +NM_001098623.2:c.9100G>A NP_001092093.2:p.Glu3034Lys NC_000001.11:228286172:G:A p.(Glu3034Lys) NC_000001.11:228286172:G:A p.(Glu3034Lys) NC_000001.11:228286172:G:A Identity +NM_001201573.2:c.119A>G NP_001188502.1:p.Asn40Ser NC_000014.9:31673378:A:G p.(Asn40Ser) NC_000014.9:31673378:A:G p.(Asn40Ser) NC_000014.9:31673378:A:G Identity +NM_015332.4:c.277G>A NP_056147.2:p.Glu93Lys NC_000007.14:44485199:C:T p.(Glu93Lys) NC_000007.14:44485199:C:T p.(Glu93Lys) NC_000007.14:44485199:C:T Identity +NM_001286561.2:c.4066C>A NP_001273490.1:p.Leu1356Met NC_000011.10:72013436:G:T p.(Leu1356Met) NC_000011.10:72013436:G:T p.(Leu1356Met) NC_000011.10:72013436:G:T Identity +NM_001098623.2:c.22115A>G NP_001092093.2:p.Glu7372Gly NC_000001.11:228372892:A:G p.(Glu7372Gly) NC_000001.11:228372892:A:G p.(Glu7372Gly) NC_000001.11:228372892:A:G Identity +NM_007280.2:c.436T>G NP_009211.1:p.Phe146Val NC_000015.10:41319733:A:C p.(Phe146Val) NC_000015.10:41319733:A:C p.(Phe146Val) NC_000015.10:41319733:A:C Identity +NM_001395418.1:c.669T>A NP_001382347.1:p.Pro223= NC_000012.12:121024125:A:T p.(Pro223=) NC_000012.12:121024125:A:T p.(Pro223=) NC_000012.12:121024125:A:T Identity +NM_001098623.2:c.12707A>G NP_001092093.2:p.Asn4236Ser NC_000001.11:228308350:A:G p.(Asn4236Ser) NC_000001.11:228308350:A:G p.(Asn4236Ser) NC_000001.11:228308350:A:G Identity +NM_001098623.2:c.23879A>G NP_001092093.2:p.Lys7960Arg NC_000001.11:228378766:A:G p.(Lys7960Arg) NC_000001.11:228378766:A:G p.(Lys7960Arg) NC_000001.11:228378766:A:G Identity +NM_000275.3:c.1564G>T NP_000266.2:p.Val522Phe NC_000015.10:27966761:C:A p.(Val522Phe) NC_000015.10:27966761:C:A p.(Val522Phe) NC_000015.10:27966761:C:A Identity +NM_001143996.2:c.2147T>C NP_001137468.1:p.Met716Thr NC_000010.11:49739661:A:G p.(Met716Thr) NC_000010.11:49739661:A:G p.(Met716Thr) NC_000010.11:49739661:A:G Identity +NM_000911.4:c.1082C>A NP_000902.3:p.Thr361Asn NC_000001.11:28863245:C:A p.(Thr361Asn) NC_000001.11:28863245:C:A p.(Thr361Asn) NC_000001.11:28863245:C:A Identity +NM_001003745.2:c.478A>G NP_001003745.1:p.Thr160Ala NC_000011.10:7939042:T:C p.(Thr160Ala) NC_000011.10:7939042:T:C p.(Thr160Ala) NC_000011.10:7939042:T:C Identity +NM_001005491.2:c.524T>G NP_001005491.2:p.Phe175Cys NC_000011.10:55967999:A:C p.(Phe175Cys) NC_000011.10:55967999:A:C p.(Phe175Cys) NC_000011.10:55967999:A:C Identity +NM_001001953.1:c.154C>T NP_001001953.1:p.His52Tyr NC_000011.10:124023165:C:T p.(His52Tyr) NC_000011.10:124023165:C:T p.(His52Tyr) NC_000011.10:124023165:C:T Identity +NM_001004478.2:c.709G>A NP_001004478.1:p.Ala237Thr NC_000001.11:158607146:G:A p.(Ala237Thr) NC_000001.11:158607146:G:A p.(Ala237Thr) NC_000001.11:158607146:G:A Identity +NM_001170741.3:c.1802G>C NP_001164212.1:p.Gly601Ala NC_000009.12:96938724:G:C p.(Gly601Ala) NC_000009.12:96938724:G:C p.(Gly601Ala) NC_000009.12:96938724:G:C Identity +NM_020729.4:c.353G>A NP_065780.2:p.Arg118Lys NC_000001.11:86384694:C:T p.(Arg118Lys) NC_000001.11:86384694:C:T p.(Arg118Lys) NC_000001.11:86384694:C:T Identity +NM_001003941.3:c.168C>A NP_001003941.1:p.Asn56Lys NC_000007.14:44624510:C:A p.(Asn56Lys) NC_000007.14:44624510:C:A p.(Asn56Lys) NC_000007.14:44624510:C:A Identity +NM_001304347.2:c.625C>T NP_001291276.1:p.Arg209Trp NC_000019.10:9857289:G:A p.(Arg209Trp) NC_000019.10:9857289:G:A p.(Arg209Trp) NC_000019.10:9857289:G:A Identity +NM_001098623.2:c.15488G>A NP_001092093.2:p.Gly5163Glu NC_000001.11:228323441:G:A p.(Gly5163Glu) NC_000001.11:228323441:G:A p.(Gly5163Glu) NC_000001.11:228323441:G:A Identity +NM_001098623.2:c.17933C>T NP_001092093.2:p.Ser5978Leu NC_000001.11:228341512:C:T p.(Ser5978Leu) NC_000001.11:228341512:C:T p.(Ser5978Leu) NC_000001.11:228341512:C:T Identity +NM_052843.4:c.18901C>T NP_443075.3:p.Pro6301Ser NC_000001.11:228359792:C:T p.(Pro6301Ser) NC_000001.11:228359792:C:T p.(Pro6301Ser) NC_000001.11:228359792:C:T Identity +NM_001098623.2:c.1204T>C NP_001092093.2:p.Tyr402His NC_000001.11:228213655:T:C p.(Tyr402His) NC_000001.11:228213655:T:C p.(Tyr402His) NC_000001.11:228213655:T:C Identity +NM_001004473.2:c.484C>G NP_001004473.1:p.Leu162Val NC_000001.11:158466044:C:G p.(Leu162Val) NC_000001.11:158466044:C:G p.(Leu162Val) NC_000001.11:158466044:C:G Identity +NM_001004473.2:c.541A>G NP_001004473.1:p.Ile181Val NC_000001.11:158466101:A:G p.(Ile181Val) NC_000001.11:158466101:A:G p.(Ile181Val) NC_000001.11:158466101:A:G Identity +NM_001386104.1:c.16C>A NP_001373033.1:p.Gln6Lys NC_000017.11:3215635:C:A p.(Gln6Lys) NC_000017.11:3215635:C:A p.(Gln6Lys) NC_000017.11:3215635:C:A Identity +NM_014566.1:c.559C>G NP_055381.1:p.Leu187Val NC_000017.11:3063048:G:C p.(Leu187Val) NC_000017.11:3063048:G:C p.(Leu187Val) NC_000017.11:3063048:G:C Identity +NM_001004492.2:c.367G>T NP_001004492.1:p.Ala123Ser NC_000001.11:247451615:C:A p.(Ala123Ser) NC_000001.11:247451615:C:A p.(Ala123Ser) NC_000001.11:247451615:C:A Identity +NM_001004691.1:c.701G>A NP_001004691.1:p.Arg234His NC_000001.11:248323867:C:T p.(Arg234His) NC_000001.11:248323867:C:T p.(Arg234His) NC_000001.11:248323867:C:T Identity +NM_001004706.1:c.172C>T NP_001004706.1:p.Pro58Ser NC_000011.10:59503746:C:T p.(Pro58Ser) NC_000011.10:59503746:C:T p.(Pro58Ser) NC_000011.10:59503746:C:T Identity +NM_001288821.2:c.662A>C NP_001275750.1:p.Lys221Thr NC_000001.11:101806172:T:G p.(Lys221Thr) NC_000001.11:101806172:T:G p.(Lys221Thr) NC_000001.11:101806172:T:G Identity +NM_182487.4:c.484C>T NP_872293.2:p.Arg162Trp NC_000009.12:124799305:C:T p.(Arg162Trp) NC_000009.12:124799305:C:T p.(Arg162Trp) NC_000009.12:124799305:C:T Identity +NM_175747.2:c.466C>T NP_786923.1:p.His156Tyr NC_000006.12:137493704:G:A p.(His156Tyr) NC_000006.12:137493704:G:A p.(His156Tyr) NC_000006.12:137493704:G:A Identity +NM_001304535.3:c.259G>A NP_001291464.1:p.Gly87Ser NC_000001.11:248099633:G:A p.(Gly87Ser) NC_000001.11:248099633:G:A p.(Gly87Ser) NC_000001.11:248099633:G:A Identity +NM_001004693.2:c.919G>A NP_001004693.1:p.Val307Met NC_000001.11:248592849:C:T p.(Val307Met) NC_000001.11:248592849:C:T p.(Val307Met) NC_000001.11:248592849:C:T Identity +NM_033180.5:c.386G>T NP_149420.4:p.Arg129Ile NC_000011.10:5323911:C:A p.(Arg129Ile) NC_000011.10:5323911:C:A p.(Arg129Ile) NC_000011.10:5323911:C:A Identity +NM_004498.4:c.241G>C NP_004489.1:p.Gly81Arg NC_000015.10:52789643:C:G p.(Gly81Arg) NC_000015.10:52789643:C:G p.(Gly81Arg) NC_000015.10:52789643:C:G Identity +NM_014359.4:c.550C>G NP_055174.1:p.Leu184Val NC_000001.11:203499668:C:G p.(Leu184Val) NC_000001.11:203499668:C:G p.(Leu184Val) NC_000001.11:203499668:C:G Identity +NM_001001965.1:c.172A>G NP_001001965.1:p.Thr58Ala NC_000011.10:123939787:A:G p.(Thr58Ala) NC_000011.10:123939787:A:G p.(Thr58Ala) NC_000011.10:123939787:A:G Identity +NM_001005240.3:c.637A>G NP_001005240.1:p.Ile213Val NC_000019.10:111314:A:G p.(Ile213Val) NC_000019.10:111314:A:G p.(Ile213Val) NC_000019.10:111314:A:G Identity +NM_001004052.1:c.760T>C NP_001004052.1:p.Tyr254His NC_000011.10:6169566:A:G p.(Tyr254His) NC_000011.10:6169566:A:G p.(Tyr254His) NC_000011.10:6169566:A:G Identity +NM_001005281.3:c.477G>T NP_001005281.1:p.Lys159Asn NC_000007.14:144004472:G:T p.(Lys159Asn) NC_000007.14:144004472:G:T p.(Lys159Asn) NC_000007.14:144004472:G:T Identity +NM_001005177.3:c.364G>T NP_001005177.3:p.Ala122Ser NC_000011.10:4804016:C:A p.(Ala122Ser) NC_000011.10:4804016:C:A p.(Ala122Ser) NC_000011.10:4804016:C:A Identity +NM_001005469.2:c.490C>T NP_001005469.1:p.Leu164Phe NC_000011.10:58402919:G:A p.(Leu164Phe) NC_000011.10:58402919:G:A p.(Leu164Phe) NC_000011.10:58402919:G:A Identity +NM_152288.3:c.113T>C NP_689501.1:p.Leu38Pro NC_000016.10:30949401:T:C p.(Leu38Pro) NC_000016.10:30949401:T:C p.(Leu38Pro) NC_000016.10:30949401:T:C Identity +NM_145798.3:c.449G>C NP_665741.1:p.Arg150Pro NC_000017.11:47818536:C:G p.(Arg150Pro) NC_000017.11:47818536:C:G p.(Arg150Pro) NC_000017.11:47818536:C:G Identity +NM_001370485.4:c.82T>C NP_001357414.2:p.Phe28Leu NC_000019.10:14800054:A:G p.(Phe28Leu) NC_000019.10:14800054:A:G p.(Phe28Leu) NC_000019.10:14800054:A:G Identity +NM_001005193.2:c.655A>C NP_001005193.2:p.Thr219Pro NC_000019.10:9102588:T:G p.(Thr219Pro) NC_000019.10:9102588:T:G p.(Thr219Pro) NC_000019.10:9102588:T:G Identity +NM_001004450.3:c.619G>C NP_001004450.2:p.Glu207Gln NC_000009.12:122628913:C:G p.(Glu207Gln) NC_000009.12:122628913:C:G p.(Glu207Gln) NC_000009.12:122628913:C:G Identity +NM_001005285.2:c.716G>A NP_001005285.1:p.Arg239Gln NC_000011.10:75088997:C:T p.(Arg239Gln) NC_000011.10:75088997:C:T p.(Arg239Gln) NC_000011.10:75088997:C:T Identity +NM_001013355.2:c.278G>A NP_001013373.1:p.Ser93Asn NC_000001.11:248521923:G:A p.(Ser93Asn) NC_000001.11:248521923:G:A p.(Ser93Asn) NC_000001.11:248521923:G:A Identity +NM_001004693.2:c.482C>G NP_001004693.1:p.Pro161Arg NC_000001.11:248593286:G:C p.(Pro161Arg) NC_000001.11:248593286:G:C p.(Pro161Arg) NC_000001.11:248593286:G:C Identity +NM_001004136.2:c.76G>A NP_001004136.1:p.Gly26Arg NC_000001.11:248452872:G:A p.(Gly26Arg) NC_000001.11:248452872:G:A p.(Gly26Arg) NC_000001.11:248452872:G:A Identity +NM_001272005.2:c.1360C>G NP_001258934.1:p.Leu454Val NC_000017.11:74947268:C:G p.(Leu454Val) NC_000017.11:74947268:C:G p.(Leu454Val) NC_000017.11:74947268:C:G Identity +NM_001353179.2:c.2956G>A NP_001340108.1:p.Gly986Ser NC_000012.12:29445307:C:T p.(Gly986Ser) NC_000012.12:29445307:C:T p.(Gly986Ser) NC_000012.12:29445307:C:T Identity +NM_176894.3:c.760G>A NP_795713.2:p.Glu254Lys NC_000003.12:151328295:C:T p.(Glu254Lys) NC_000003.12:151328295:C:T p.(Glu254Lys) NC_000003.12:151328295:C:T Identity +NM_177938.2:c.1663G>T NP_808807.2:p.Ala555Ser NC_000003.12:49006877:G:T p.(Ala555Ser) NC_000003.12:49006877:G:T p.(Ala555Ser) NC_000003.12:49006877:G:T Identity +NM_001144063.2:c.566G>A NP_001137535.1:p.Arg189Gln NC_000011.10:3107866:C:T p.(Arg189Gln) NC_000011.10:3107866:C:T p.(Arg189Gln) NC_000011.10:3107866:C:T Identity +NM_001004700.3:c.499T>C NP_001004700.2:p.Cys167Arg NC_000011.10:55603874:A:G p.(Cys167Arg) NC_000011.10:55603874:A:G p.(Cys167Arg) NC_000011.10:55603874:A:G Identity +NM_001004704.2:c.181C>A NP_001004704.1:p.Leu61Ile NC_000011.10:55665346:C:A p.(Leu61Ile) NC_000011.10:55665346:C:A p.(Leu61Ile) NC_000011.10:55665346:C:A Identity +NM_001004708.1:c.182T>C NP_001004708.1:p.Phe61Ser NC_000011.10:59457141:T:C p.(Phe61Ser) NC_000011.10:59457141:T:C p.(Phe61Ser) NC_000011.10:59457141:T:C Identity +NM_001005240.3:c.212C>T NP_001005240.1:p.Ala71Val NC_000019.10:110889:C:T p.(Ala71Val) NC_000019.10:110889:C:T p.(Ala71Val) NC_000019.10:110889:C:T Identity +NM_001184974.2:c.952C>T NP_001171903.1:p.Arg318Trp NC_000011.10:47178978:G:A p.(Arg318Trp) NC_000011.10:47178978:G:A p.(Arg318Trp) NC_000011.10:47178978:G:A Identity +NM_000437.4:c.367G>C NP_000428.2:p.Glu123Gln NC_000001.11:25984502:C:G p.(Glu123Gln) NC_000001.11:25984502:C:G p.(Glu123Gln) NC_000001.11:25984502:C:G Identity +NM_001166108.2:c.1045C>T NP_001159580.1:p.Pro349Ser NC_000004.12:168668325:C:T p.(Pro349Ser) NC_000004.12:168668325:C:T p.(Pro349Ser) NC_000004.12:168668325:C:T Identity +NM_001145028.2:c.273G>C NP_001138500.2:p.Gln91His NC_000019.10:14056702:C:G p.(Gln91His) NC_000019.10:14056702:C:G p.(Gln91His) NC_000019.10:14056702:C:G Identity +NM_198185.7:c.1436T>C NP_937828.3:p.Ile479Thr NC_000011.10:7691972:A:G p.(Ile479Thr) NC_000011.10:7691972:A:G p.(Ile479Thr) NC_000011.10:7691972:A:G Identity +NM_001324218.2:c.350T>C NP_001311147.1:p.Met117Thr NC_000023.11:78960869:T:C p.(Met117Thr) NC_000023.11:78960869:T:C p.(Met117Thr) NC_000023.11:78960869:T:C Identity +NM_018026.4:c.2392T>A NP_060496.2:p.Ser798Thr NC_000011.10:66239239:T:A p.(Ser798Thr) NC_000011.10:66239239:T:A p.(Ser798Thr) NC_000011.10:66239239:T:A Identity +NM_001005164.2:c.107T>C NP_001005164.2:p.Val36Ala NC_000011.10:5059520:A:G p.(Val36Ala) NC_000011.10:5059520:A:G p.(Val36Ala) NC_000011.10:5059520:A:G Identity +NM_001005169.1:c.389T>C NP_001005169.1:p.Ile130Thr NC_000011.10:4594426:T:C p.(Ile130Thr) NC_000011.10:4594426:T:C p.(Ile130Thr) NC_000011.10:4594426:T:C Identity +NM_001001952.1:c.326T>C NP_001001952.1:p.Val109Ala NC_000011.10:55819954:T:C p.(Val109Ala) NC_000011.10:55819954:T:C p.(Val109Ala) NC_000011.10:55819954:T:C Identity +NM_052959.3:c.607C>T NP_443191.1:p.His203Tyr NC_000011.10:124619362:C:T p.(His203Tyr) NC_000011.10:124619362:C:T p.(His203Tyr) NC_000011.10:124619362:C:T Identity +NM_001014831.3:c.197C>T NP_001014831.1:p.Ala66Val NC_000019.10:39169749:C:T p.(Ala66Val) NC_000019.10:39169749:C:T p.(Ala66Val) NC_000019.10:39169749:C:T Identity +NM_001166108.2:c.229G>A NP_001159580.1:p.Glu77Lys NC_000004.12:168511732:G:A p.(Glu77Lys) NC_000004.12:168511732:G:A p.(Glu77Lys) NC_000004.12:168511732:G:A Identity +NM_001256550.2:c.410T>C NP_001243479.1:p.Val137Ala NC_000014.9:67292654:T:C p.(Val137Ala) NC_000014.9:67292654:T:C p.(Val137Ala) NC_000014.9:67292654:T:C Identity +NM_001004740.2:c.322G>T NP_001004740.1:p.Val108Leu NC_000011.10:56613180:C:A p.(Val108Leu) NC_000011.10:56613180:C:A p.(Val108Leu) NC_000011.10:56613180:C:A Identity +NM_001005853.1:c.446T>C NP_001005853.1:p.Phe149Ser NC_000002.12:240029983:A:G p.(Phe149Ser) NC_000002.12:240029983:A:G p.(Phe149Ser) NC_000002.12:240029983:A:G Identity +NM_054105.2:c.586A>C NP_473446.1:p.Met196Leu NC_000012.12:55452798:A:C p.(Met196Leu) NC_000012.12:55452798:A:C p.(Met196Leu) NC_000012.12:55452798:A:C Identity +NM_001005186.2:c.691C>G NP_001005186.2:p.His231Asp NC_000011.10:58031642:C:G p.(His231Asp) NC_000011.10:58031642:C:G p.(His231Asp) NC_000011.10:58031642:C:G Identity +NM_001005191.3:c.540A>T NP_001005191.1:p.Glu180Asp NC_000019.10:9214297:T:A p.(Glu180Asp) NC_000019.10:9214297:T:A p.(Glu180Asp) NC_000019.10:9214297:T:A Identity +NM_001005196.1:c.272T>C NP_001005196.1:p.Ile91Thr NC_000011.10:124424599:A:G p.(Ile91Thr) NC_000011.10:124424599:A:G p.(Ile91Thr) NC_000011.10:124424599:A:G Identity +NM_001278945.2:c.541A>G NP_001265874.1:p.Thr181Ala NC_000008.11:27820618:T:C p.(Thr181Ala) NC_000008.11:27820618:T:C p.(Thr181Ala) NC_000008.11:27820618:T:C Identity +NM_001142763.2:c.4225G>T NP_001136235.1:p.Val1409Leu NC_000010.11:53828565:C:A p.(Val1409Leu) NC_000010.11:53828565:C:A p.(Val1409Leu) NC_000010.11:53828565:C:A Identity +NM_001365906.3:c.1678C>T NP_001352835.1:p.Pro560Ser NC_000014.9:73259028:C:T p.(Pro560Ser) NC_000014.9:73259028:C:T p.(Pro560Ser) NC_000014.9:73259028:C:T Identity +NM_001037639.3:c.332G>A NP_001032728.1:p.Cys111Tyr NC_000003.12:183866754:C:T p.(Cys111Tyr) NC_000003.12:183866754:C:T p.(Cys111Tyr) NC_000003.12:183866754:C:T Identity +NM_001317895.2:c.941G>A NP_001304824.1:p.Gly314Glu NC_000008.11:143985096:C:T p.(Gly314Glu) NC_000008.11:143985096:C:T p.(Gly314Glu) NC_000008.11:143985096:C:T Identity +NM_001318372.2:c.1823C>G NP_001305301.1:p.Thr608Ser NC_000013.11:67226617:G:C p.(Thr608Ser) NC_000013.11:67226617:G:C p.(Thr608Ser) NC_000013.11:67226617:G:C Identity +NM_018910.3:c.1468G>C NP_061733.1:p.Val490Leu NC_000005.10:140835850:G:C p.(Val490Leu) NC_000005.10:140835850:G:C p.(Val490Leu) NC_000005.10:140835850:G:C Identity +NM_018898.5:c.2054T>C NP_061721.2:p.Val685Ala NC_000005.10:140928945:T:C p.(Val685Ala) NC_000005.10:140928945:T:C p.(Val685Ala) NC_000005.10:140928945:T:C Identity +NM_001033083.2:c.100A>G NP_001028255.1:p.Met34Val NC_000010.11:68296969:T:C p.(Met34Val) NC_000010.11:68296969:T:C p.(Met34Val) NC_000010.11:68296969:T:C Identity +NM_020815.3:c.2550C>G NP_065866.1:p.His850Gln NC_000004.12:133152689:C:G p.(His850Gln) NC_000004.12:133152689:C:G p.(His850Gln) NC_000004.12:133152689:C:G Identity +NM_016580.4:c.604C>G NP_057664.1:p.Leu202Val NC_000005.10:141957247:G:C p.(Leu202Val) NC_000005.10:141957247:G:C p.(Leu202Val) NC_000005.10:141957247:G:C Identity +NM_018901.4:c.233T>C NP_061724.1:p.Leu78Pro NC_000005.10:140856280:T:C p.(Leu78Pro) NC_000005.10:140856280:T:C p.(Leu78Pro) NC_000005.10:140856280:T:C Identity +NM_001382637.1:c.1803G>C NP_001369566.1:p.Lys601Asn NC_000015.10:31484292:C:G p.(Lys601Asn) NC_000015.10:31484292:C:G p.(Lys601Asn) NC_000015.10:31484292:C:G Identity +NM_019120.5:c.1358C>T NP_061993.3:p.Thr453Ile NC_000005.10:141179391:C:T p.(Thr453Ile) NC_000005.10:141179391:C:T p.(Thr453Ile) NC_000005.10:141179391:C:T Identity +NM_018905.3:c.1292G>T NP_061728.1:p.Gly431Val NC_000005.10:140796255:G:T p.(Gly431Val) NC_000005.10:140796255:G:T p.(Gly431Val) NC_000005.10:140796255:G:T Identity +NM_014005.5:c.1550T>A NP_054724.1:p.Val517Glu NC_000005.10:140850044:T:A ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:Data provider error: ValueError: Transcript NM_014005.5 not found ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_014005.5, alt_ac=NM_014005.5, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_014005.5 not found +NM_018935.4:c.1732C>T NP_061758.1:p.Arg578Trp NC_000005.10:141247309:C:T p.(Arg578Trp) NC_000005.10:141247309:C:T p.(Arg578Trp) NC_000005.10:141247309:C:T Identity +NM_000437.4:c.983T>C NP_000428.2:p.Ile328Thr NC_000001.11:25972658:A:G p.(Ile328Thr) NC_000001.11:25972658:A:G p.(Ile328Thr) NC_000001.11:25972658:A:G Identity +NM_017906.3:c.92C>T NP_060376.2:p.Thr31Ile NC_000006.12:10697330:C:T p.(Thr31Ile) NC_000006.12:10697330:C:T p.(Thr31Ile) NC_000006.12:10697330:C:T Identity +NM_001166108.2:c.2132G>T NP_001159580.1:p.Arg711Leu NC_000004.12:168894609:G:T p.(Arg711Leu) NC_000004.12:168894609:G:T p.(Arg711Leu) NC_000004.12:168894609:G:T Identity +NM_001011663.2:c.710C>A NP_001011663.1:p.Ser237Tyr NC_000010.11:103345095:G:T p.(Ser237Tyr) NC_000010.11:103345095:G:T p.(Ser237Tyr) NC_000010.11:103345095:G:T Identity +NM_001315507.2:c.4090T>A NP_001302436.2:p.Ser1364Thr NC_000008.11:17980736:T:A p.(Ser1364Thr) NC_000008.11:17980736:T:A p.(Ser1364Thr) NC_000008.11:17980736:T:A Identity +NM_001315507.2:c.2345A>G NP_001302436.2:p.Asn782Ser NC_000008.11:17962055:A:G p.(Asn782Ser) NC_000008.11:17962055:A:G p.(Asn782Ser) NC_000008.11:17962055:A:G Identity +NM_018257.3:c.610T>G NP_060727.2:p.Ser204Ala NC_000020.11:64267913:T:G p.(Ser204Ala) NC_000020.11:64267913:T:G p.(Ser204Ala) NC_000020.11:64267913:T:G Identity +NM_004716.4:c.1114G>A NP_004707.2:p.Ala372Thr NC_000011.10:117223248:C:T p.(Ala372Thr) NC_000011.10:117223248:C:T p.(Ala372Thr) NC_000011.10:117223248:C:T Identity +NM_018918.3:c.712A>T NP_061741.1:p.Asn238Tyr NC_000005.10:141365041:A:T p.(Asn238Tyr) NC_000005.10:141365041:A:T p.(Asn238Tyr) NC_000005.10:141365041:A:T Identity +NM_018921.3:c.1165A>C NP_061744.1:p.Asn389His NC_000005.10:141404116:A:C p.(Asn389His) NC_000005.10:141404116:A:C p.(Asn389His) NC_000005.10:141404116:A:C Identity +NM_020318.3:c.2693C>T NP_064714.2:p.Ser898Phe NC_000001.11:176695805:C:T p.(Ser898Phe) NC_000001.11:176695805:C:T p.(Ser898Phe) NC_000001.11:176695805:C:T Identity +NM_001015880.2:c.275C>A NP_001015880.1:p.Ser92Tyr NC_000010.11:87713203:C:A p.(Ser92Tyr) NC_000010.11:87713203:C:A p.(Ser92Tyr) NC_000010.11:87713203:C:A Identity +NM_017554.3:c.2156G>T NP_060024.2:p.Gly719Val NC_000003.12:122700709:G:T p.(Gly719Val) NC_000003.12:122700709:G:T p.(Gly719Val) NC_000003.12:122700709:G:T Identity +NM_000283.4:c.1042G>A NP_000274.3:p.Val348Met NC_000004.12:655988:G:A p.(Val348Met) NC_000004.12:655988:G:A p.(Val348Met) NC_000004.12:655988:G:A Identity +NM_001001567.2:c.107T>G NP_001001567.1:p.Met36Arg NC_000021.9:42686228:T:G p.(Met36Arg) NC_000021.9:42686228:T:G p.(Met36Arg) NC_000021.9:42686228:T:G Identity +NM_001346413.3:c.3646C>G NP_001333342.1:p.Pro1216Ala NC_000011.10:83169587:C:G p.(Pro1216Ala) NC_000011.10:83169587:C:G p.(Pro1216Ala) NC_000011.10:83169587:C:G Identity +NM_001162429.3:c.2222C>G NP_001155901.1:p.Ala741Gly NC_000003.12:33864091:C:G p.(Ala741Gly) NC_000003.12:33864091:C:G p.(Ala741Gly) NC_000003.12:33864091:C:G Identity +NM_178140.4:c.5141T>C NP_835260.2:p.Val1714Ala NC_000005.10:32088588:T:C p.(Val1714Ala) NC_000005.10:32088588:T:C p.(Val1714Ala) NC_000005.10:32088588:T:C Identity +NM_001164595.2:c.2542C>T NP_001158067.1:p.Arg848Trp NC_000012.12:41573320:C:T p.(Arg848Trp) NC_000012.12:41573320:C:T p.(Arg848Trp) NC_000012.12:41573320:C:T Identity +NM_001164595.2:c.2236A>G NP_001158067.1:p.Arg746Gly NC_000012.12:41573014:A:G p.(Arg746Gly) NC_000012.12:41573014:A:G p.(Arg746Gly) NC_000012.12:41573014:A:G Identity +NM_000038.6:c.8411A>C NP_000029.2:p.Gln2804Pro NC_000005.10:112844004:A:C p.(Gln2804Pro) NC_000005.10:112844004:A:C p.(Gln2804Pro) NC_000005.10:112844004:A:C Identity +NM_000282.4:c.389C>T NP_000273.2:p.Ala130Val NC_000013.11:100155066:C:T p.(Ala130Val) NC_000013.11:100155066:C:T p.(Ala130Val) NC_000013.11:100155066:C:T Identity +NM_000532.5:c.125A>G NP_000523.2:p.Lys42Arg NC_000003.12:136250499:A:G p.(Lys42Arg) NC_000003.12:136250499:A:G p.(Lys42Arg) NC_000003.12:136250499:A:G Identity +NM_016580.4:c.55T>C NP_057664.1:p.Phe19Leu NC_000005.10:141957796:A:G p.(Phe19Leu) NC_000005.10:141957796:A:G p.(Phe19Leu) NC_000005.10:141957796:A:G Identity +NM_178140.4:c.5284G>A NP_835260.2:p.Val1762Met NC_000005.10:32088731:G:A p.(Val1762Met) NC_000005.10:32088731:G:A p.(Val1762Met) NC_000005.10:32088731:G:A Identity +NM_001267551.2:c.215G>A NP_001254480.1:p.Ser72Asn NC_000017.11:17522318:C:T p.(Ser72Asn) NC_000017.11:17522318:C:T p.(Ser72Asn) NC_000017.11:17522318:C:T Identity +NM_000287.4:c.1633G>A NP_000278.3:p.Ala545Thr NC_000006.12:42968344:C:T p.(Ala545Thr) NC_000006.12:42968344:C:T p.(Ala545Thr) NC_000006.12:42968344:C:T Identity +NM_018909.4:c.196A>G NP_061732.1:p.Met66Val NC_000005.10:140828286:A:G p.(Met66Val) NC_000005.10:140828286:A:G p.(Met66Val) NC_000005.10:140828286:A:G Identity +NM_021259.3:c.1600G>C NP_067082.2:p.Asp534His NC_000016.10:374375:C:G p.(Asp534His) NC_000016.10:374375:C:G p.(Asp534His) NC_000016.10:374375:C:G Identity +NM_001304451.2:c.576C>G NP_001291380.1:p.Asp192Glu NC_000001.11:10411539:C:G p.(Asp192Glu) NC_000001.11:10411539:C:G p.(Asp192Glu) NC_000001.11:10411539:C:G Identity +NM_173582.6:c.1357G>A NP_775853.2:p.Ala453Thr NC_000011.10:74342969:C:T p.(Ala453Thr) NC_000011.10:74342969:C:T p.(Ala453Thr) NC_000011.10:74342969:C:T Identity +NM_001007157.2:c.1525A>G NP_001007158.1:p.Lys509Glu NC_000007.14:11035708:A:G p.(Lys509Glu) NC_000007.14:11035708:A:G p.(Lys509Glu) NC_000007.14:11035708:A:G Identity +NM_000926.4:c.671A>T NP_000917.3:p.Glu224Val NC_000011.10:101128399:T:A p.(Glu224Val) NC_000011.10:101128399:T:A p.(Glu224Val) NC_000011.10:101128399:T:A Identity +NM_001135862.3:c.209C>T NP_001129334.1:p.Pro70Leu NC_000022.11:44920401:G:A p.(Pro70Leu) NC_000022.11:44920401:G:A p.(Pro70Leu) NC_000022.11:44920401:G:A Identity +NM_000292.3:c.2832G>A NP_000283.1:p.Met944Ile NC_000023.11:18905833:C:T p.(Met944Ile) NC_000023.11:18905833:C:T p.(Met944Ile) NC_000023.11:18905833:C:T Identity +NM_194449.4:c.1357G>C NP_919431.2:p.Gly453Arg NC_000018.10:62717039:G:C p.(Gly453Arg) NC_000018.10:62717039:G:C p.(Gly453Arg) NC_000018.10:62717039:G:C Identity +NM_018937.5:c.1432A>G NP_061760.2:p.Arg478Gly NC_000005.10:141102080:A:G p.(Arg478Gly) NC_000005.10:141102080:A:G p.(Arg478Gly) NC_000005.10:141102080:A:G Identity +NM_018919.3:c.1996G>A NP_061742.1:p.Asp666Asn NC_000005.10:141376078:G:A p.(Asp666Asn) NC_000005.10:141376078:G:A p.(Asp666Asn) NC_000005.10:141376078:G:A Identity +NM_001386906.1:c.974G>A NP_001373835.1:p.Gly325Asp NC_000005.10:141409175:G:A p.(Gly325Asp) NC_000005.10:141409175:G:A p.(Gly325Asp) NC_000005.10:141409175:G:A Identity +NM_001286581.2:c.1936G>A NP_001273510.1:p.Ala646Thr NC_000011.10:607391:G:A p.(Ala646Thr) NC_000011.10:607391:G:A p.(Ala646Thr) NC_000011.10:607391:G:A Identity +NM_001324046.2:c.1714T>A NP_001310975.1:p.Ter572Arg NC_000018.10:46812531:A:T p.(Ter572ArgextTer6) NC_000018.10:46812531:A:T p.(Ter572ArgextTer6) NC_000018.10:46812531:A:T Analogous +NM_001004744.1:c.236C>A NP_001004744.1:p.Pro79Gln NC_000011.10:56417996:G:T p.(Pro79Gln) NC_000011.10:56417996:G:T p.(Pro79Gln) NC_000011.10:56417996:G:T Identity +NM_001377334.1:c.224G>A NP_001364263.1:p.Arg75Gln NC_000001.11:204469578:C:T p.(Arg75Gln) NC_000001.11:204469578:C:T p.(Arg75Gln) NC_000001.11:204469578:C:T Identity +NM_001101387.2:c.112G>A NP_001094857.1:p.Glu38Lys NC_000017.11:10825533:C:T p.(Glu38Lys) NC_000017.11:10825533:C:T p.(Glu38Lys) NC_000017.11:10825533:C:T Identity +NM_000298.6:c.594C>A NP_000289.1:p.Asn198Lys NC_000001.11:155295215:G:T p.(Asn198Lys) NC_000001.11:155295215:G:T p.(Asn198Lys) NC_000001.11:155295215:G:T Identity +NM_001005376.3:c.155G>T NP_001005376.1:p.Arg52Leu NC_000019.10:43667591:C:A p.(Arg52Leu) NC_000019.10:43667591:C:A p.(Arg52Leu) NC_000019.10:43667591:C:A Identity +NM_001351694.2:c.125C>T NP_001338623.1:p.Thr42Ile NC_000019.10:39415006:C:T p.(Thr42Ile) NC_000019.10:39415006:C:T p.(Thr42Ile) NC_000019.10:39415006:C:T Identity +NM_001144856.2:c.1691T>C NP_001138328.1:p.Ile564Thr NC_000012.12:6327273:T:C p.(Ile564Thr) NC_000012.12:6327273:T:C p.(Ile564Thr) NC_000012.12:6327273:T:C Identity +NM_001369614.1:c.923G>A NP_001356543.1:p.Gly308Glu NC_000017.11:38735334:C:T p.(Gly308Glu) NC_000017.11:38735334:C:T p.(Gly308Glu) NC_000017.11:38735334:C:T Identity +NM_014510.3:c.4337C>G NP_055325.2:p.Pro1446Arg NC_000007.14:82956615:G:C p.(Pro1446Arg) NC_000007.14:82956615:G:C p.(Pro1446Arg) NC_000007.14:82956615:G:C Identity +NM_194449.4:c.1090G>A NP_919431.2:p.Asp364Asn NC_000018.10:62716772:G:A p.(Asp364Asn) NC_000018.10:62716772:G:A p.(Asp364Asn) NC_000018.10:62716772:G:A Identity +NM_001289003.1:c.693G>C NP_001275932.1:p.Glu231Asp NC_000016.10:71684517:C:G p.(Glu231Asp) NC_000016.10:71684517:C:G p.(Glu231Asp) NC_000016.10:71684517:C:G Identity +NM_001351273.1:c.275A>G NP_001338202.1:p.Gln92Arg NC_000019.10:1453472:A:G p.(Gln92Arg) NC_000019.10:1453472:A:G p.(Gln92Arg) NC_000019.10:1453472:A:G Identity +NM_001100876.2:c.129G>A NP_001094346.1:p.Met43Ile NC_000009.12:128927132:G:A p.(Met43Ile) NC_000009.12:128927132:G:A p.(Met43Ile) NC_000009.12:128927132:G:A Identity +NM_018425.4:c.964A>G NP_060895.1:p.Met322Val NC_000010.11:97662947:A:G p.(Met322Val) NC_000010.11:97662947:A:G p.(Met322Val) NC_000010.11:97662947:A:G Identity +NM_001308020.2:c.2354T>C NP_001294949.1:p.Leu785Ser NC_000018.10:42067406:T:C p.(Leu785Ser) NC_000018.10:42067406:T:C p.(Leu785Ser) NC_000018.10:42067406:T:C Identity +NM_001242307.2:c.30G>A NP_001229236.1:p.Leu10= NC_000010.11:3172742:C:T p.(Leu10=) NC_000010.11:3172742:C:T p.(Leu10=) NC_000010.11:3172742:C:T Identity +NM_001242307.2:c.1933G>C NP_001229236.1:p.Gly645Arg NC_000010.11:3148229:C:G p.(Gly645Arg) NC_000010.11:3148229:C:G p.(Gly645Arg) NC_000010.11:3148229:C:G Identity +NM_001008496.3:c.421G>T NP_001008496.2:p.Val141Phe NC_000022.11:24756639:C:A p.(Val141Phe) NC_000022.11:24756639:C:A p.(Val141Phe) NC_000022.11:24756639:C:A Identity +NM_000296.4:c.956C>T NP_000287.4:p.Pro319Leu NC_000016.10:2118035:G:A p.(Pro319Leu) NC_000016.10:2118035:G:A p.(Pro319Leu) NC_000016.10:2118035:G:A Identity +NM_001412788.1:c.1720G>A NP_001399717.1:p.Gly574Ser NC_000012.12:39586223:C:T p.(Gly574Ser) NC_000012.12:39586223:C:T p.(Gly574Ser) NC_000012.12:39586223:C:T Identity +NM_177531.6:c.3430G>A NP_803875.2:p.Val1144Ile NC_000008.11:109435278:G:A p.(Val1144Ile) NC_000008.11:109435278:G:A p.(Val1144Ile) NC_000008.11:109435278:G:A Identity +NM_000384.3:c.5888C>G NP_000375.3:p.Ala1963Gly NC_000002.12:21010979:G:C p.(Ala1963Gly) NC_000002.12:21010979:G:C p.(Ala1963Gly) NC_000002.12:21010979:G:C Identity +NM_014935.5:c.154A>G NP_055750.2:p.Met52Val NC_000001.11:204268260:T:C p.(Met52Val) NC_000001.11:204268260:T:C p.(Met52Val) NC_000001.11:204268260:T:C Identity +NM_001351693.2:c.989A>G NP_001338622.1:p.His330Arg NC_000019.10:39418815:A:G p.(His330Arg) NC_000019.10:39418815:A:G p.(His330Arg) NC_000019.10:39418815:A:G Identity +NM_001270366.2:c.1279G>T NP_001257295.1:p.Ala427Ser NC_000019.10:813447:C:A p.(Ala427Ser) NC_000019.10:813447:C:A p.(Ala427Ser) NC_000019.10:813447:C:A Identity +NM_001128304.2:c.391C>G NP_001121776.1:p.Leu131Val NC_000003.12:146201040:G:C p.(Leu131Val) NC_000003.12:146201040:G:C p.(Leu131Val) NC_000003.12:146201040:G:C Identity +NM_005761.3:c.3610G>A NP_005752.1:p.Val1204Ile NC_000012.12:94279483:G:A p.(Val1204Ile) NC_000012.12:94279483:G:A p.(Val1204Ile) NC_000012.12:94279483:G:A Identity +NM_005761.3:c.431G>A NP_005752.1:p.Arg144His NC_000012.12:94149401:G:A p.(Arg144His) NC_000012.12:94149401:G:A p.(Arg144His) NC_000012.12:94149401:G:A Identity +NM_000535.7:c.2186T>A NP_000526.2:p.Leu729His NC_000007.14:5978684:A:T p.(Leu729His) NC_000007.14:5978684:A:T p.(Leu729His) NC_000007.14:5978684:A:T Identity +NM_001099271.2:c.1419A>T NP_001092741.1:p.Arg473Ser NC_000005.10:75677938:T:A p.(Arg473Ser) NC_000005.10:75677938:T:A p.(Arg473Ser) NC_000005.10:75677938:T:A Identity +NM_006231.4:c.3831G>T NP_006222.2:p.Lys1277Asn NC_000012.12:132649479:C:A p.(Lys1277Asn) NC_000012.12:132649479:C:A p.(Lys1277Asn) NC_000012.12:132649479:C:A Identity +NM_001646.3:c.262G>C NP_001637.1:p.Asp88His NC_000019.10:44945182:G:C p.(Asp88His) NC_000019.10:44945182:G:C p.(Asp88His) NC_000019.10:44945182:G:C Identity +NM_199420.4:c.2745G>T NP_955452.3:p.Glu915Asp NC_000003.12:121490185:C:A p.(Glu915Asp) NC_000003.12:121490185:C:A p.(Glu915Asp) NC_000003.12:121490185:C:A Identity +NM_001002926.2:c.32C>T NP_001002926.1:p.Pro11Leu NC_000007.14:19708984:G:A p.(Pro11Leu) NC_000007.14:19708984:G:A p.(Pro11Leu) NC_000007.14:19708984:G:A Identity +NM_001407805.1:c.2168C>T NP_001394734.1:p.Ala723Val NC_000019.10:621529:G:A p.(Ala723Val) NC_000019.10:621529:G:A p.(Ala723Val) NC_000019.10:621529:G:A Identity +NM_001363477.2:c.620G>C NP_001350406.1:p.Gly207Ala NC_000011.10:77609297:G:C p.(Gly207Ala) NC_000011.10:77609297:G:C p.(Gly207Ala) NC_000011.10:77609297:G:C Identity +NM_001198783.2:c.1323C>G NP_001185712.1:p.Asn441Lys NC_000001.11:167399271:C:G p.(Asn441Lys) NC_000001.11:167399271:C:G p.(Asn441Lys) NC_000001.11:167399271:C:G Identity +NM_133263.4:c.482T>G NP_573570.3:p.Leu161Arg NC_000005.10:149830782:T:G p.(Leu161Arg) NC_000005.10:149830782:T:G p.(Leu161Arg) NC_000005.10:149830782:T:G Identity +NM_172069.4:c.2150T>C NP_742066.2:p.Val717Ala NC_000002.12:43710265:T:C p.(Val717Ala) NC_000002.12:43710265:T:C p.(Val717Ala) NC_000002.12:43710265:T:C Identity +NM_001080475.3:c.2102C>T NP_001073944.1:p.Thr701Ile NC_000002.12:207861110:G:A p.(Thr701Ile) NC_000002.12:207861110:G:A p.(Thr701Ile) NC_000002.12:207861110:G:A Identity +NM_004073.4:c.1279G>A NP_004064.2:p.Val427Met NC_000001.11:44804182:G:A p.(Val427Met) NC_000001.11:44804182:G:A p.(Val427Met) NC_000001.11:44804182:G:A Identity +NM_001190799.2:c.800G>A NP_001177728.1:p.Ser267Asn NC_000004.12:127886265:G:A p.(Ser267Asn) NC_000004.12:127886265:G:A p.(Ser267Asn) NC_000004.12:127886265:G:A Identity +NM_025179.4:c.3019G>T NP_079455.3:p.Val1007Phe NC_000001.11:208051397:C:A p.(Val1007Phe) NC_000001.11:208051397:C:A p.(Val1007Phe) NC_000001.11:208051397:C:A Identity +NM_001130082.3:c.2593A>C NP_001123554.1:p.Thr865Pro NC_000003.12:48419692:T:G p.(Thr865Pro) NC_000003.12:48419692:T:G p.(Thr865Pro) NC_000003.12:48419692:T:G Identity +NM_005761.3:c.1937G>C NP_005752.1:p.Arg646Thr NC_000012.12:94227191:G:C p.(Arg646Thr) NC_000012.12:94227191:G:C p.(Arg646Thr) NC_000012.12:94227191:G:C Identity +NM_001255976.2:c.188G>A NP_001242905.1:p.Cys63Tyr NC_000020.11:57653078:C:T p.(Cys63Tyr) NC_000020.11:57653078:C:T p.(Cys63Tyr) NC_000020.11:57653078:C:T Identity +NM_000535.7:c.632_634del NP_000526.2:p.Arg211del NC_000007.14:5999178:GTCGT:GT p.(Arg211del) NC_000007.14:5999178:GTCGT:GT p.(Arg211del) NC_000007.14:5999178:GTC: Identity +NM_000535.7:c.2203A>T NP_000526.2:p.Asn735Tyr NC_000007.14:5978667:T:A p.(Asn735Tyr) NC_000007.14:5978667:T:A p.(Asn735Tyr) NC_000007.14:5978667:T:A Identity +NM_000384.3:c.6308A>G NP_000375.3:p.Asn2103Ser NC_000002.12:21010559:T:C p.(Asn2103Ser) NC_000002.12:21010559:T:C p.(Asn2103Ser) NC_000002.12:21010559:T:C Identity +NM_001161581.2:c.943G>A NP_001155053.1:p.Val315Met NC_000003.12:52096636:C:T p.(Val315Met) NC_000003.12:52096636:C:T p.(Val315Met) NC_000003.12:52096636:C:T Identity +NM_002689.4:c.1565A>G NP_002680.2:p.Tyr522Cys NC_000011.10:65295907:A:G p.(Tyr522Cys) NC_000011.10:65295907:A:G p.(Tyr522Cys) NC_000011.10:65295907:A:G Identity +NM_000384.3:c.10484C>A NP_000375.3:p.Ser3495Tyr NC_000002.12:21006383:G:T p.(Ser3495Tyr) NC_000002.12:21006383:G:T p.(Ser3495Tyr) NC_000002.12:21006383:G:T Identity +NM_018358.3:c.206A>G NP_060828.2:p.Tyr69Cys NC_000003.12:184186638:A:G p.(Tyr69Cys) NC_000003.12:184186638:A:G p.(Tyr69Cys) NC_000003.12:184186638:A:G Identity +NM_199420.4:c.3685A>G NP_955452.3:p.Arg1229Gly NC_000003.12:121489245:T:C p.(Arg1229Gly) NC_000003.12:121489245:T:C p.(Arg1229Gly) NC_000003.12:121489245:T:C Identity +NM_000437.4:c.383G>A NP_000428.2:p.Gly128Asp NC_000001.11:25984486:C:T p.(Gly128Asp) NC_000001.11:25984486:C:T p.(Gly128Asp) NC_000001.11:25984486:C:T Identity +NM_001407296.1:c.2192C>G NP_001394225.1:p.Ala731Gly NC_000016.10:23629901:G:C p.(Ala731Gly) NC_000016.10:23629901:G:C p.(Ala731Gly) NC_000016.10:23629901:G:C Identity +NM_017734.5:c.667A>G NP_060204.1:p.Asn223Asp NC_000001.11:99688926:A:G p.(Asn223Asp) NC_000001.11:99688926:A:G p.(Asn223Asp) NC_000001.11:99688926:A:G Identity +NM_175854.8:c.898A>G NP_787050.6:p.Thr300Ala NC_000013.11:28220275:A:G p.(Thr300Ala) NC_000013.11:28220275:A:G p.(Thr300Ala) NC_000013.11:28220275:A:G Identity +NM_015368.4:c.1150A>T NP_056183.2:p.Met384Leu NC_000011.10:94180205:A:T p.(Met384Leu) NC_000011.10:94180205:A:T p.(Met384Leu) NC_000011.10:94180205:A:T Identity +NM_001365906.3:c.839T>C NP_001352835.1:p.Ile280Thr NC_000014.9:73251831:T:C p.(Ile280Thr) NC_000014.9:73251831:T:C p.(Ile280Thr) NC_000014.9:73251831:T:C Identity +NM_000038.6:c.1954C>A NP_000029.2:p.His652Asn NC_000005.10:112835160:C:A p.(His652Asn) NC_000005.10:112835160:C:A p.(His652Asn) NC_000005.10:112835160:C:A Identity +NM_001174100.2:c.1078C>T NP_001167571.1:p.Leu360Phe NC_000003.12:51958194:G:A p.(Leu360Phe) NC_000003.12:51958194:G:A p.(Leu360Phe) NC_000003.12:51958194:G:A Identity +NM_018901.4:c.1492T>G NP_061724.1:p.Leu498Val NC_000005.10:140857539:T:G p.(Leu498Val) NC_000005.10:140857539:T:G p.(Leu498Val) NC_000005.10:140857539:T:G Identity +NM_018904.3:c.89A>G NP_061727.1:p.Gln30Arg NC_000005.10:140882356:A:G p.(Gln30Arg) NC_000005.10:140882356:A:G p.(Gln30Arg) NC_000005.10:140882356:A:G Identity +NM_013340.4:c.407A>G NP_037472.2:p.Lys136Arg NC_000005.10:141051876:A:G p.(Lys136Arg) NC_000005.10:141051876:A:G p.(Lys136Arg) NC_000005.10:141051876:A:G Identity +NM_018918.3:c.1018G>A NP_061741.1:p.Val340Met NC_000005.10:141365347:G:A p.(Val340Met) NC_000005.10:141365347:G:A p.(Val340Met) NC_000005.10:141365347:G:A Identity +NM_003736.4:c.1067A>G NP_003727.1:p.Glu356Gly NC_000005.10:141388950:A:G p.(Glu356Gly) NC_000005.10:141388950:A:G p.(Glu356Gly) NC_000005.10:141388950:A:G Identity +NM_001353423.2:c.224G>T NP_001340352.1:p.Ter75Leu NC_000020.11:63521794:G:T p.(Ter75LeuextTer70) NC_000020.11:63521794:G:T p.(Ter75LeuextTer70) NC_000020.11:63521794:G:T Analogous +NM_001378006.1:c.2170C>T NP_001364935.1:p.Arg724Cys NC_000011.10:70348351:C:T p.(Arg724Cys) NC_000011.10:70348351:C:T p.(Arg724Cys) NC_000011.10:70348351:C:T Identity +NM_001144032.3:c.113C>T NP_001137504.2:p.Ala38Val NC_000001.11:144373471:G:A p.(Ala38Val) NC_000001.11:144373471:G:A p.(Ala38Val) NC_000001.11:144373471:G:A Identity +NM_004792.3:c.1163T>G NP_004783.2:p.Leu388Trp NC_000002.12:169636420:T:G p.(Leu388Trp) NC_000002.12:169636420:T:G p.(Leu388Trp) NC_000002.12:169636420:T:G Identity +NM_001276277.3:c.2956G>T NP_001263206.1:p.Gly986Cys NC_000005.10:103183266:G:T p.(Gly986Cys) NC_000005.10:103183266:G:T p.(Gly986Cys) NC_000005.10:103183266:G:T Identity +NM_002705.5:c.3079C>T NP_002696.4:p.Arg1027Trp NC_000016.10:4885575:G:A p.(Arg1027Trp) NC_000016.10:4885575:G:A p.(Arg1027Trp) NC_000016.10:4885575:G:A Identity +NM_032833.5:c.489G>C NP_116222.4:p.Lys163Asn NC_000001.11:204410922:C:G p.(Lys163Asn) NC_000001.11:204410922:C:G p.(Lys163Asn) NC_000001.11:204410922:C:G Identity +NM_014931.4:c.1982G>A NP_055746.3:p.Gly661Asp NC_000019.10:55236648:C:T p.(Gly661Asp) NC_000019.10:55236648:C:T p.(Gly661Asp) NC_000019.10:55236648:C:T Identity +NM_001204103.2:c.92C>T NP_001191032.1:p.Pro31Leu NC_000006.12:32154685:C:T p.(Pro31Leu) NC_000006.12:32154685:C:T p.(Pro31Leu) NC_000006.12:32154685:C:T Identity +NM_000309.5:c.567A>C NP_000300.1:p.Gln189His NC_000001.11:161168526:A:C p.(Gln189His) NC_000001.11:161168526:A:C p.(Gln189His) NC_000001.11:161168526:A:C Identity +NM_001167857.2:c.1447A>G NP_001161329.1:p.Asn483Asp NC_000001.11:202438012:A:G p.(Asn483Asp) NC_000001.11:202438012:A:G p.(Asn483Asp) NC_000001.11:202438012:A:G Identity +NM_001130143.2:c.541G>A NP_001123615.1:p.Gly181Ser NC_000015.10:40815708:C:T p.(Gly181Ser) NC_000015.10:40815708:C:T p.(Gly181Ser) NC_000015.10:40815708:C:T Identity +NM_014811.5:c.3316C>A NP_055626.3:p.His1106Asn NC_000009.12:135487825:C:A p.(His1106Asn) NC_000009.12:135487825:C:A p.(His1106Asn) NC_000009.12:135487825:C:A Identity +NM_172365.3:c.713C>A NP_758953.1:p.Ser238Tyr NC_000014.9:64587194:C:A p.(Ser238Tyr) NC_000014.9:64587194:C:A p.(Ser238Tyr) NC_000014.9:64587194:C:A Identity +NM_001040118.3:c.3158A>T NP_001035207.1:p.Glu1053Val NC_000011.10:72696990:T:A p.(Glu1053Val) NC_000011.10:72696990:T:A p.(Glu1053Val) NC_000011.10:72696990:T:A Identity +NM_001122964.3:c.2191C>A NP_001116436.3:p.Pro731Thr NC_000002.12:55564381:G:T p.(Pro731Thr) NC_000002.12:55564381:G:T p.(Pro731Thr) NC_000002.12:55564381:G:T Identity +NM_032319.3:c.238G>A NP_115695.1:p.Gly80Ser NC_000002.12:73229500:C:T p.(Gly80Ser) NC_000002.12:73229500:C:T p.(Gly80Ser) NC_000002.12:73229500:C:T Identity +NM_018928.3:c.1955G>A NP_061751.1:p.Ser652Asn NC_000005.10:141487127:G:A p.(Ser652Asn) NC_000005.10:141487127:G:A p.(Ser652Asn) NC_000005.10:141487127:G:A Identity +NM_001281429.2:c.1211G>A NP_001268358.1:p.Arg404His NC_000012.12:47236273:G:A p.(Arg404His) NC_000012.12:47236273:G:A p.(Arg404His) NC_000012.12:47236273:G:A Identity +NM_001355016.2:c.3058C>G NP_001341945.1:p.Pro1020Ala NC_000005.10:150115833:G:C p.(Pro1020Ala) NC_000005.10:150115833:G:C p.(Pro1020Ala) NC_000005.10:150115833:G:C Identity +NM_001407447.1:c.1676A>T NP_001394376.1:p.Gln559Leu NC_000005.10:112828001:A:T p.(Gln559Leu) NC_000005.10:112828001:A:T p.(Gln559Leu) NC_000005.10:112828001:A:T Identity +NM_005313.5:c.373G>A NP_005304.3:p.Val125Ile NC_000015.10:43761431:G:A p.(Val125Ile) NC_000015.10:43761431:G:A p.(Val125Ile) NC_000015.10:43761431:G:A Identity +NM_001285444.2:c.131C>A NP_001272373.1:p.Ser44Tyr NC_000016.10:14998374:C:A p.(Ser44Tyr) NC_000016.10:14998374:C:A p.(Ser44Tyr) NC_000016.10:14998374:C:A Identity +NM_021255.3:c.676G>T NP_067078.1:p.Ala226Ser NC_000014.9:56290435:G:T p.(Ala226Ser) NC_000014.9:56290435:G:T p.(Ala226Ser) NC_000014.9:56290435:G:T Identity +NM_006320.6:c.281C>G NP_006311.3:p.Ser94Cys NC_000004.12:128287509:G:C p.(Ser94Cys) NC_000004.12:128287509:G:C p.(Ser94Cys) NC_000004.12:128287509:G:C Identity +NM_017934.7:c.195G>T NP_060404.4:p.Lys65Asn NC_000006.12:79060812:C:A p.(Lys65Asn) NC_000006.12:79060812:C:A p.(Lys65Asn) NC_000006.12:79060812:C:A Identity +NM_001258459.2:c.1000C>T NP_001245388.1:p.Arg334Trp NC_000007.14:56081643:G:A p.(Arg334Trp) NC_000007.14:56081643:G:A p.(Arg334Trp) NC_000007.14:56081643:G:A Identity +NM_001351273.1:c.4472C>A NP_001338202.1:p.Ala1491Glu NC_000019.10:1467775:C:A p.(Ala1491Glu) NC_000019.10:1467775:C:A p.(Ala1491Glu) NC_000019.10:1467775:C:A Identity +NM_153000.5:c.432C>G NP_694545.1:p.Asp144Glu NC_000018.10:10471718:C:G p.(Asp144Glu) NC_000018.10:10471718:C:G p.(Asp144Glu) NC_000018.10:10471718:C:G Identity +NM_006099.3:c.200G>A NP_006090.2:p.Arg67Gln NC_000001.11:145856830:C:T p.(Arg67Gln) NC_000001.11:145856830:C:T p.(Arg67Gln) NC_000001.11:145856830:C:T Identity +NM_004855.5:c.1132T>G NP_004846.4:p.Leu378Val NC_000015.10:55350706:T:G p.(Leu378Val) NC_000015.10:55350706:T:G p.(Leu378Val) NC_000015.10:55350706:T:G Identity +NM_015957.4:c.664G>A NP_057041.2:p.Val222Ile NC_000011.10:34882781:C:T p.(Val222Ile) NC_000011.10:34882781:C:T p.(Val222Ile) NC_000011.10:34882781:C:T Identity +NM_006218.4:c.2479C>G NP_006209.2:p.Gln827Glu NC_000003.12:179226023:C:G p.(Gln827Glu) NC_000003.12:179226023:C:G p.(Gln827Glu) NC_000003.12:179226023:C:G Identity +NM_016518.3:c.785G>T NP_057602.2:p.Gly262Val NC_000017.11:29054668:G:T p.(Gly262Val) NC_000017.11:29054668:G:T p.(Gly262Val) NC_000017.11:29054668:G:T Identity +NM_000296.4:c.11825C>T NP_000287.4:p.Ala3942Val NC_000016.10:2091058:G:A p.(Ala3942Val) NC_000016.10:2091058:G:A p.(Ala3942Val) NC_000016.10:2091058:G:A Identity +NM_002741.5:c.1334A>G NP_002732.3:p.Lys445Arg NC_000019.10:14458289:A:G p.(Lys445Arg) NC_000019.10:14458289:A:G p.(Lys445Arg) NC_000019.10:14458289:A:G Identity +NM_001159322.2:c.850A>G NP_001152794.1:p.Lys284Glu NC_000019.10:48085082:T:C p.(Lys284Glu) NC_000019.10:48085082:T:C p.(Lys284Glu) NC_000019.10:48085082:T:C Identity +NM_213600.4:c.2504A>C NP_998765.3:p.Gln835Pro NC_000015.10:42142029:T:G p.(Gln835Pro) NC_000015.10:42142029:T:G p.(Gln835Pro) NC_000015.10:42142029:T:G Identity +NM_133373.5:c.1252G>T NP_588614.1:p.Ala418Ser NC_000017.11:45118001:C:A p.(Ala418Ser) NC_000017.11:45118001:C:A p.(Ala418Ser) NC_000017.11:45118001:C:A Identity +NM_002660.3:c.584G>A NP_002651.2:p.Arg195Gln NC_000020.11:41162522:G:A p.(Arg195Gln) NC_000020.11:41162522:G:A p.(Arg195Gln) NC_000020.11:41162522:G:A Identity +NM_001130960.2:c.336C>A NP_001124432.1:p.Asn112Lys NC_000003.12:155594038:G:T p.(Asn112Lys) NC_000003.12:155594038:G:T p.(Asn112Lys) NC_000003.12:155594038:G:T Identity +NM_000384.3:c.12203C>A NP_000375.3:p.Thr4068Asn NC_000002.12:21003218:G:T p.(Thr4068Asn) NC_000002.12:21003218:G:T p.(Thr4068Asn) NC_000002.12:21003218:G:T Identity +NM_001367868.2:c.1636G>A NP_001354797.1:p.Ala546Thr NC_000019.10:4512323:C:T p.(Ala546Thr) NC_000019.10:4512323:C:T p.(Ala546Thr) NC_000019.10:4512323:C:T Identity +NM_001282736.2:c.416T>C NP_001269665.1:p.Val139Ala NC_000010.11:20143315:T:C p.(Val139Ala) NC_000010.11:20143315:T:C p.(Val139Ala) NC_000010.11:20143315:T:C Identity +NM_001130082.3:c.2456C>T NP_001123554.1:p.Pro819Leu NC_000003.12:48419829:G:A p.(Pro819Leu) NC_000003.12:48419829:G:A p.(Pro819Leu) NC_000003.12:48419829:G:A Identity +NM_001163257.2:c.2936G>A NP_001156729.1:p.Gly979Asp NC_000023.11:153772976:G:A p.(Gly979Asp) NC_000023.11:153772976:G:A p.(Gly979Asp) NC_000023.11:153772976:G:A Identity +NM_001301054.2:c.580G>C NP_001287983.1:p.Ala194Pro NC_000005.10:149366101:G:C p.(Ala194Pro) NC_000005.10:149366101:G:C p.(Ala194Pro) NC_000005.10:149366101:G:C Identity +NM_001242318.3:c.256C>T NP_001229247.1:p.Pro86Ser NC_000008.11:65779746:G:A p.(Pro86Ser) NC_000008.11:65779746:G:A p.(Pro86Ser) NC_000008.11:65779746:G:A Identity +NM_025225.3:c.74C>A NP_079501.2:p.Ala25Glu NC_000022.11:43923984:C:A p.(Ala25Glu) NC_000022.11:43923984:C:A p.(Ala25Glu) NC_000022.11:43923984:C:A Identity +NM_001307940.2:c.38G>A NP_001294869.1:p.Ser13Asn NC_000023.11:85379416:C:T p.(Ser13Asn) NC_000023.11:85379416:C:T p.(Ser13Asn) NC_000023.11:85379416:C:T Identity +NM_199420.4:c.3703A>G NP_955452.3:p.Ile1235Val NC_000003.12:121489227:T:C p.(Ile1235Val) NC_000003.12:121489227:T:C p.(Ile1235Val) NC_000003.12:121489227:T:C Identity +NM_001301129.2:c.107C>T NP_001288058.1:p.Pro36Leu NC_000022.11:37959388:C:T p.(Pro36Leu) NC_000022.11:37959388:C:T p.(Pro36Leu) NC_000022.11:37959388:C:T Identity +NM_001114107.5:c.615C>A NP_001107579.1:p.Phe205Leu NC_000004.12:185506555:G:T p.(Phe205Leu) NC_000004.12:185506555:G:T p.(Phe205Leu) NC_000004.12:185506555:G:T Identity +NM_001161779.2:c.626G>A NP_001155251.1:p.Arg209Gln NC_000008.11:93922609:G:A p.(Arg209Gln) NC_000008.11:93922609:G:A p.(Arg209Gln) NC_000008.11:93922609:G:A Identity +NM_001303139.2:c.1849A>G NP_001290068.1:p.Met617Val NC_000003.12:73383810:T:C p.(Met617Val) NC_000003.12:73383810:T:C p.(Met617Val) NC_000003.12:73383810:T:C Identity +NM_002616.3:c.2897C>T NP_002607.2:p.Pro966Leu NC_000017.11:8143440:G:A p.(Pro966Leu) NC_000017.11:8143440:G:A p.(Pro966Leu) NC_000017.11:8143440:G:A Identity +NM_001289861.2:c.3323C>T NP_001276790.1:p.Thr1108Ile NC_000001.11:7835926:C:T p.(Thr1108Ile) NC_000001.11:7835926:C:T p.(Thr1108Ile) NC_000001.11:7835926:C:T Identity +NM_001033561.2:c.1993A>G NP_001028733.1:p.Asn665Asp NC_000017.11:28912577:T:C p.(Asn665Asp) NC_000017.11:28912577:T:C p.(Asn665Asp) NC_000017.11:28912577:T:C Identity +NM_153812.3:c.289C>G NP_722519.2:p.Leu97Val NC_000001.11:6619949:C:G p.(Leu97Val) NC_000001.11:6619949:C:G p.(Leu97Val) NC_000001.11:6619949:C:G Identity +NM_198850.4:c.133T>C NP_942147.3:p.Ser45Pro NC_000019.10:43503985:A:G p.(Ser45Pro) NC_000019.10:43503985:A:G p.(Ser45Pro) NC_000019.10:43503985:A:G Identity +NM_001146258.2:c.451A>G NP_001139730.1:p.Ile151Val NC_000012.12:57595968:A:G p.(Ile151Val) NC_000012.12:57595968:A:G p.(Ile151Val) NC_000012.12:57595968:A:G Identity +NM_001135219.2:c.299T>C NP_001128691.1:p.Leu100Pro NC_000009.12:127928199:A:G p.(Leu100Pro) NC_000009.12:127928199:A:G p.(Leu100Pro) NC_000009.12:127928199:A:G Identity +NM_138295.5:c.4571G>A NP_612152.1:p.Gly1524Glu NC_000007.14:47857623:C:T p.(Gly1524Glu) NC_000007.14:47857623:C:T p.(Gly1524Glu) NC_000007.14:47857623:C:T Identity +NM_177531.6:c.4108C>A NP_803875.2:p.Pro1370Thr NC_000008.11:109441282:C:A p.(Pro1370Thr) NC_000008.11:109441282:C:A p.(Pro1370Thr) NC_000008.11:109441282:C:A Identity +NM_177531.6:c.11504C>A NP_803875.2:p.Thr3835Asn NC_000008.11:109510884:C:A p.(Thr3835Asn) NC_000008.11:109510884:C:A p.(Thr3835Asn) NC_000008.11:109510884:C:A Identity +NM_213600.4:c.31G>T NP_998765.3:p.Ala11Ser NC_000015.10:42156518:C:A p.(Ala11Ser) NC_000015.10:42156518:C:A p.(Ala11Ser) NC_000015.10:42156518:C:A Identity +NM_014935.5:c.1351C>G NP_055750.2:p.Pro451Ala NC_000001.11:204257525:G:C p.(Pro451Ala) NC_000001.11:204257525:G:C p.(Pro451Ala) NC_000001.11:204257525:G:C Identity +NM_001160184.2:c.1639C>T NP_001153656.1:p.His547Tyr NC_000001.11:974482:C:T p.(His547Tyr) NC_000001.11:974482:C:T p.(His547Tyr) NC_000001.11:974482:C:T Identity +NM_001367868.2:c.595A>G NP_001354797.1:p.Thr199Ala NC_000019.10:4513364:T:C p.(Thr199Ala) NC_000019.10:4513364:T:C p.(Thr199Ala) NC_000019.10:4513364:T:C Identity +NM_001013706.3:c.434G>C NP_001013728.2:p.Arg145Pro NC_000019.10:4529158:C:G p.(Arg145Pro) NC_000019.10:4529158:C:G p.(Arg145Pro) NC_000019.10:4529158:C:G Identity +NM_004073.4:c.784A>G NP_004064.2:p.Thr262Ala NC_000001.11:44802988:A:G p.(Thr262Ala) NC_000001.11:44802988:A:G p.(Thr262Ala) NC_000001.11:44802988:A:G Identity +NM_001145319.2:c.1205G>A NP_001138791.1:p.Arg402Gln NC_000003.12:142694495:G:A p.(Arg402Gln) NC_000003.12:142694495:G:A p.(Arg402Gln) NC_000003.12:142694495:G:A Identity +NM_001163257.2:c.4681G>A NP_001156729.1:p.Val1561Met NC_000023.11:153776096:G:A p.(Val1561Met) NC_000023.11:153776096:G:A p.(Val1561Met) NC_000023.11:153776096:G:A Identity +NM_001098537.3:c.2735T>A NP_001092007.2:p.Val912Asp NC_000009.12:137479083:A:T p.(Val912Asp) NC_000009.12:137479083:A:T p.(Val912Asp) NC_000009.12:137479083:A:T Identity +NM_001351610.1:c.1610A>G NP_001338539.1:p.Asp537Gly NC_000018.10:54293979:A:G p.(Asp537Gly) NC_000018.10:54293979:A:G p.(Asp537Gly) NC_000018.10:54293979:A:G Identity +NM_001284330.2:c.409T>C NP_001271259.1:p.Trp137Arg NC_000007.14:44079922:A:G p.(Trp137Arg) NC_000007.14:44079922:A:G p.(Trp137Arg) NC_000007.14:44079922:A:G Identity +NM_199420.4:c.6523A>G NP_955452.3:p.Arg2175Gly NC_000003.12:121473369:T:C p.(Arg2175Gly) NC_000003.12:121473369:T:C p.(Arg2175Gly) NC_000003.12:121473369:T:C Identity +NM_199420.4:c.6859A>G NP_955452.3:p.Lys2287Glu NC_000003.12:121467626:T:C p.(Lys2287Glu) NC_000003.12:121467626:T:C p.(Lys2287Glu) NC_000003.12:121467626:T:C Identity +NM_199420.4:c.7261A>G NP_955452.3:p.Thr2421Ala NC_000003.12:121449317:T:C p.(Thr2421Ala) NC_000003.12:121449317:T:C p.(Thr2421Ala) NC_000003.12:121449317:T:C Identity +NM_199420.4:c.6347A>C NP_955452.3:p.Gln2116Pro NC_000003.12:121476597:T:G p.(Gln2116Pro) NC_000003.12:121476597:T:G p.(Gln2116Pro) NC_000003.12:121476597:T:G Identity +NM_199420.4:c.1847C>T NP_955452.3:p.Ser616Leu NC_000003.12:121509672:G:A p.(Ser616Leu) NC_000003.12:121509672:G:A p.(Ser616Leu) NC_000003.12:121509672:G:A Identity +NM_012230.5:c.349T>C NP_036362.3:p.Tyr117His NC_000007.14:76611809:A:G p.(Tyr117His) NC_000007.14:76611809:A:G p.(Tyr117His) NC_000007.14:76611809:A:G Identity +NM_000305.3:c.737T>G NP_000296.2:p.Val246Gly NC_000007.14:95407026:A:C p.(Val246Gly) NC_000007.14:95407026:A:C p.(Val246Gly) NC_000007.14:95407026:A:C Identity +NM_015316.3:c.1474G>A NP_056131.2:p.Ala492Thr NC_000014.9:103742137:C:T p.(Ala492Thr) NC_000014.9:103742137:C:T p.(Ala492Thr) NC_000014.9:103742137:C:T Identity +NM_001080826.3:c.1991A>G NP_001074295.2:p.Asp664Gly NC_000008.11:8376417:T:C p.(Asp664Gly) NC_000008.11:8376417:T:C p.(Asp664Gly) NC_000008.11:8376417:T:C Identity +NM_001007257.3:c.1252C>T NP_001007258.1:p.Pro418Ser NC_000001.11:13779649:C:T p.(Pro418Ser) NC_000001.11:13779649:C:T p.(Pro418Ser) NC_000001.11:13779649:C:T Identity +NM_020820.4:c.3730G>A NP_065871.3:p.Ala1244Thr NC_000020.11:48642212:C:T p.(Ala1244Thr) NC_000020.11:48642212:C:T p.(Ala1244Thr) NC_000020.11:48642212:C:T Identity +NM_005813.6:c.680C>T NP_005804.1:p.Pro227Leu NC_000002.12:37289392:G:A p.(Pro227Leu) NC_000002.12:37289392:G:A p.(Pro227Leu) NC_000002.12:37289392:G:A Identity +NM_001081640.2:c.11054C>G NP_001075109.1:p.Pro3685Arg NC_000008.11:47785165:G:C p.(Pro3685Arg) NC_000008.11:47785165:G:C p.(Pro3685Arg) NC_000008.11:47785165:G:C Identity +NM_001413184.1:c.5228G>A NP_001400113.1:p.Arg1743His NC_000008.11:67201505:C:T p.(Arg1743His) NC_000008.11:67201505:C:T p.(Arg1743His) NC_000008.11:67201505:C:T Identity +NM_001410846.1:c.5284G>A NP_001397775.1:p.Gly1762Ser NC_000020.11:49033127:G:A p.(Gly1762Ser) NC_000020.11:49033127:G:A p.(Gly1762Ser) NC_000020.11:49033127:G:A Identity +NM_001161546.2:c.585G>C NP_001155018.1:p.Glu195Asp NC_000005.10:139394496:C:G p.(Glu195Asp) NC_000005.10:139394496:C:G p.(Glu195Asp) NC_000005.10:139394496:C:G Identity +NM_020719.3:c.1232C>T NP_065770.1:p.Ser411Leu NC_000019.10:49595566:C:T p.(Ser411Leu) NC_000019.10:49595566:C:T p.(Ser411Leu) NC_000019.10:49595566:C:T Identity +NM_020340.5:c.6374A>G NP_065073.3:p.Asn2125Ser NC_000006.12:138336325:A:G p.(Asn2125Ser) NC_000006.12:138336325:A:G p.(Asn2125Ser) NC_000006.12:138336325:A:G Identity +NM_001318871.2:c.1077G>T NP_001305800.1:p.Glu359Asp NC_000003.12:9948851:C:A p.(Glu359Asp) NC_000003.12:9948851:C:A p.(Glu359Asp) NC_000003.12:9948851:C:A Identity +NM_001174164.2:c.2477C>A NP_001167635.1:p.Pro826Gln NC_000007.14:128351078:G:T p.(Pro826Gln) NC_000007.14:128351078:G:T p.(Pro826Gln) NC_000007.14:128351078:G:T Identity +NM_021016.4:c.664C>A NP_066296.2:p.Pro222Thr NC_000019.10:42732828:G:T p.(Pro222Thr) NC_000019.10:42732828:G:T p.(Pro222Thr) NC_000019.10:42732828:G:T Identity +NM_006248.4:c.307C>G NP_006239.3:p.Pro103Ala NC_000012.12:11393770:G:C p.(Pro103Ala) NC_000012.12:11393770:G:C p.(Pro103Ala) NC_000012.12:11393770:G:C Identity +NM_000014.6:c.703G>T NP_000005.3:p.Val235Leu NC_000012.12:9109375:C:A p.(Val235Leu) NC_000012.12:9109375:C:A p.(Val235Leu) NC_000012.12:9109375:C:A Identity +NM_005973.5:c.362A>G NP_005964.3:p.Asn121Ser NC_000001.11:156768132:A:G p.(Asn121Ser) NC_000001.11:156768132:A:G p.(Asn121Ser) NC_000001.11:156768132:A:G Identity +NM_022481.6:c.4474C>T NP_071926.4:p.Leu1492Phe NC_000005.10:141654110:G:A p.(Leu1492Phe) NC_000005.10:141654110:G:A p.(Leu1492Phe) NC_000005.10:141654110:G:A Identity +NM_001300823.2:c.1205A>G NP_001287752.1:p.Lys402Arg NC_000004.12:120781287:T:C p.(Lys402Arg) NC_000004.12:120781287:T:C p.(Lys402Arg) NC_000004.12:120781287:T:C Identity +NM_001267580.2:c.1112T>C NP_001254509.2:p.Leu371Ser NC_000015.10:90974699:A:G p.(Leu371Ser) NC_000015.10:90974699:A:G p.(Leu371Ser) NC_000015.10:90974699:A:G Identity +NM_001385302.1:c.2293G>A NP_001372231.1:p.Ala765Thr NC_000020.11:3037214:G:A p.(Ala765Thr) NC_000020.11:3037214:G:A p.(Ala765Thr) NC_000020.11:3037214:G:A Identity +NM_001276289.2:c.68A>G NP_001263218.1:p.Gln23Arg NC_000017.11:68515466:A:G p.(Gln23Arg) NC_000017.11:68515466:A:G p.(Gln23Arg) NC_000017.11:68515466:A:G Identity +NM_001145166.2:c.222A>T NP_001138638.1:p.Glu74Asp NC_000011.10:20395809:A:T p.(Glu74Asp) NC_000011.10:20395809:A:T p.(Glu74Asp) NC_000011.10:20395809:A:T Identity +NM_001256678.2:c.391T>G NP_001243607.1:p.Leu131Val NC_000014.9:35123635:T:G p.(Leu131Val) NC_000014.9:35123635:T:G p.(Leu131Val) NC_000014.9:35123635:T:G Identity +NM_153256.4:c.784G>A NP_694988.3:p.Gly262Ser NC_000010.11:11869881:G:A p.(Gly262Ser) NC_000010.11:11869881:G:A p.(Gly262Ser) NC_000010.11:11869881:G:A Identity +NM_001081640.2:c.3605G>A NP_001075109.1:p.Arg1202Lys NC_000008.11:47893380:C:T p.(Arg1202Lys) NC_000008.11:47893380:C:T p.(Arg1202Lys) NC_000008.11:47893380:C:T Identity +NM_001081640.2:c.2651T>C NP_001075109.1:p.Val884Ala NC_000008.11:47914030:A:G p.(Val884Ala) NC_000008.11:47914030:A:G p.(Val884Ala) NC_000008.11:47914030:A:G Identity +NM_001081640.2:c.5899T>G NP_001075109.1:p.Phe1967Val NC_000008.11:47862392:A:C p.(Phe1967Val) NC_000008.11:47862392:A:C p.(Phe1967Val) NC_000008.11:47862392:A:C Identity +NM_001080408.3:c.175G>A NP_001073877.2:p.Glu59Lys NC_000014.9:74863659:C:T p.(Glu59Lys) NC_000014.9:74863659:C:T p.(Glu59Lys) NC_000014.9:74863659:C:T Identity +NM_001195736.3:c.122G>C NP_001182665.4:p.Arg41Pro NC_000001.11:2587148:G:C p.(Arg41Pro) NC_000001.11:2587148:G:C p.(Arg41Pro) NC_000001.11:2587148:G:C Identity +NM_032289.4:c.2210A>T NP_115665.1:p.Glu737Val NC_000005.10:139842367:A:T p.(Glu737Val) NC_000005.10:139842367:A:T p.(Glu737Val) NC_000005.10:139842367:A:T Identity +NM_024605.4:c.2004C>G NP_078881.3:p.Ser668Arg NC_000004.12:148047027:C:G p.(Ser668Arg) NC_000004.12:148047027:C:G p.(Ser668Arg) NC_000004.12:148047027:C:G Identity +NM_002773.5:c.16G>T NP_002764.1:p.Val6Phe NC_000016.10:31135482:C:A p.(Val6Phe) NC_000016.10:31135482:C:A p.(Val6Phe) NC_000016.10:31135482:C:A Identity +NM_001308047.2:c.3901G>A NP_001294976.1:p.Ala1301Thr NC_000009.12:76708372:C:T p.(Ala1301Thr) NC_000009.12:76708372:C:T p.(Ala1301Thr) NC_000009.12:76708372:C:T Identity +NM_001270965.2:c.1036G>A NP_001257894.1:p.Gly346Ser NC_000010.11:102414950:C:T p.(Gly346Ser) NC_000010.11:102414950:C:T p.(Gly346Ser) NC_000010.11:102414950:C:T Identity +NM_001206650.2:c.754C>G NP_001193579.1:p.Leu252Val NC_000019.10:42925895:G:C p.(Leu252Val) NC_000019.10:42925895:G:C p.(Leu252Val) NC_000019.10:42925895:G:C Identity +NM_014614.3:c.943A>G NP_055429.2:p.Ile315Val NC_000002.12:53934618:T:C p.(Ile315Val) NC_000002.12:53934618:T:C p.(Ile315Val) NC_000002.12:53934618:T:C Identity +NM_001081640.2:c.1619T>G NP_001075109.1:p.Met540Arg NC_000008.11:47933968:A:C p.(Met540Arg) NC_000008.11:47933968:A:C p.(Met540Arg) NC_000008.11:47933968:A:C Identity +NM_001242864.3:c.215G>A NP_001229793.1:p.Arg72His NC_000021.9:46644375:G:A p.(Arg72His) NC_000021.9:46644375:G:A p.(Arg72His) NC_000021.9:46644375:G:A Identity +NM_001256536.1:c.451A>G NP_001243465.1:p.Asn151Asp NC_000012.12:3553710:A:G p.(Asn151Asp) NC_000012.12:3553710:A:G p.(Asn151Asp) NC_000012.12:3553710:A:G Identity +NM_003913.5:c.532A>G NP_003904.3:p.Ile178Val NC_000006.12:4032048:A:G p.(Ile178Val) NC_000006.12:4032048:A:G p.(Ile178Val) NC_000006.12:4032048:A:G Identity +NM_020719.3:c.4253C>T NP_065770.1:p.Thr1418Ile NC_000019.10:49599845:C:T p.(Thr1418Ile) NC_000019.10:49599845:C:T p.(Thr1418Ile) NC_000019.10:49599845:C:T Identity +NM_001134758.4:c.476G>A NP_001128230.1:p.Gly159Asp NC_000020.11:63700643:C:T p.(Gly159Asp) NC_000020.11:63700643:C:T p.(Gly159Asp) NC_000020.11:63700643:C:T Identity +NM_001363780.2:c.451A>G NP_001350709.1:p.Ile151Val NC_000006.12:32149586:T:C p.(Ile151Val) NC_000006.12:32149586:T:C p.(Ile151Val) NC_000006.12:32149586:T:C Identity +NM_002769.5:c.544A>C NP_002760.1:p.Asn182His NC_000007.14:142752519:A:C p.(Asn182His) NC_000007.14:142752519:A:C p.(Asn182His) NC_000007.14:142752519:A:C Identity +NM_024605.4:c.1094A>G NP_078881.3:p.Glu365Gly NC_000004.12:147906696:A:G p.(Glu365Gly) NC_000004.12:147906696:A:G p.(Glu365Gly) NC_000004.12:147906696:A:G Identity +NM_031246.4:c.725C>G NP_112536.2:p.Pro242Arg NC_000019.10:43071938:G:C p.(Pro242Arg) NC_000019.10:43071938:G:C p.(Pro242Arg) NC_000019.10:43071938:G:C Identity +NM_001136033.3:c.1118A>G NP_001129505.1:p.Lys373Arg NC_000008.11:143817042:T:C p.(Lys373Arg) NC_000008.11:143817042:T:C p.(Lys373Arg) NC_000008.11:143817042:T:C Identity +NM_005049.3:c.2248G>T NP_005040.2:p.Val750Leu NC_000021.9:44128038:G:T p.(Val750Leu) NC_000021.9:44128038:G:T p.(Val750Leu) NC_000021.9:44128038:G:T Identity +NM_012413.4:c.671C>T NP_036545.1:p.Ala224Val NC_000002.12:37367355:C:T p.(Ala224Val) NC_000002.12:37367355:C:T p.(Ala224Val) NC_000002.12:37367355:C:T Identity +NM_001282798.2:c.3080G>A NP_001269727.1:p.Arg1027His NC_000002.12:135724068:G:A p.(Arg1027His) NC_000002.12:135724068:G:A p.(Arg1027His) NC_000002.12:135724068:G:A Identity +NM_006834.5:c.542T>C NP_006825.1:p.Ile181Thr NC_000006.12:146554468:T:C p.(Ile181Thr) NC_000006.12:146554468:T:C p.(Ile181Thr) NC_000006.12:146554468:T:C Identity +NM_171998.4:c.439A>G NP_741995.1:p.Met147Val NC_000023.11:155261005:T:C p.(Met147Val) NC_000023.11:155261005:T:C p.(Met147Val) NC_000023.11:155261005:T:C Identity +NM_001142548.2:c.1464G>C NP_001136020.1:p.Lys488Asn NC_000001.11:46273442:G:C p.(Lys488Asn) NC_000001.11:46273442:G:C p.(Lys488Asn) NC_000001.11:46273442:G:C Identity +NM_018059.5:c.1465A>G NP_060529.4:p.Ile489Val NC_000007.14:4822543:T:C p.(Ile489Val) NC_000007.14:4822543:T:C p.(Ile489Val) NC_000007.14:4822543:T:C Identity +NM_001190728.1:c.890C>T NP_001177657.1:p.Ser297Phe NC_000009.12:127174761:C:T p.(Ser297Phe) NC_000009.12:127174761:C:T p.(Ser297Phe) NC_000009.12:127174761:C:T Identity +NM_001300865.2:c.421G>A NP_001287794.1:p.Ala141Thr NC_000019.10:5931471:C:T p.(Ala141Thr) NC_000019.10:5931471:C:T p.(Ala141Thr) NC_000019.10:5931471:C:T Identity +NM_021033.7:c.88G>C NP_066361.1:p.Glu30Gln NC_000013.11:97434557:G:C p.(Glu30Gln) NC_000013.11:97434557:G:C p.(Glu30Gln) NC_000013.11:97434557:G:C Identity +NM_001256024.2:c.802C>T NP_001242953.1:p.Leu268Phe NC_000010.11:48455039:G:A p.(Leu268Phe) NC_000010.11:48455039:G:A p.(Leu268Phe) NC_000010.11:48455039:G:A Identity +NM_001199417.2:c.1915C>T NP_001186346.1:p.Arg639Trp NC_000017.11:38469633:C:T p.(Arg639Trp) NC_000017.11:38469633:C:T p.(Arg639Trp) NC_000017.11:38469633:C:T Identity +NM_004103.4:c.241G>A NP_004094.3:p.Gly81Arg NC_000008.11:27419930:G:A p.(Gly81Arg) NC_000008.11:27419930:G:A p.(Gly81Arg) NC_000008.11:27419930:G:A Identity +NM_014614.3:c.5272A>C NP_055429.2:p.Lys1758Gln NC_000002.12:53866871:T:G p.(Lys1758Gln) NC_000002.12:53866871:T:G p.(Lys1758Gln) NC_000002.12:53866871:T:G Identity +NM_001042414.4:c.1240G>A NP_001035879.1:p.Gly414Ser NC_000013.11:19705807:C:T p.(Gly414Ser) NC_000013.11:19705807:C:T p.(Gly414Ser) NC_000013.11:19705807:C:T Identity +NM_001042414.4:c.1426G>A NP_001035879.1:p.Gly476Ser NC_000013.11:19703320:C:T p.(Gly476Ser) NC_000013.11:19703320:C:T p.(Gly476Ser) NC_000013.11:19703320:C:T Identity +NM_004158.5:c.169C>T NP_004149.1:p.Arg57Cys NC_000019.10:6375595:G:A p.(Arg57Cys) NC_000019.10:6375595:G:A p.(Arg57Cys) NC_000019.10:6375595:G:A Identity +NM_000314.8:c.1097C>T NP_000305.3:p.Thr366Ile NC_000010.11:87965356:C:T p.(Thr366Ile) NC_000010.11:87965356:C:T p.(Thr366Ile) NC_000010.11:87965356:C:T Identity +NM_175907.6:c.127C>A NP_787103.1:p.Pro43Thr NC_000018.10:75208931:G:T p.(Pro43Thr) NC_000018.10:75208931:G:T p.(Pro43Thr) NC_000018.10:75208931:G:T Identity +NM_001199649.2:c.2957C>T NP_001186578.1:p.Pro986Leu NC_000008.11:140664944:G:A p.(Pro986Leu) NC_000008.11:140664944:G:A p.(Pro986Leu) NC_000008.11:140664944:G:A Identity +NM_006264.3:c.2977C>T NP_006255.1:p.Pro993Ser NC_000004.12:86750795:C:T p.(Pro993Ser) NC_000004.12:86750795:C:T p.(Pro993Ser) NC_000004.12:86750795:C:T Identity +NM_002848.4:c.640G>A NP_002839.1:p.Glu214Lys NC_000012.12:15499572:G:A p.(Glu214Lys) NC_000012.12:15499572:G:A p.(Glu214Lys) NC_000012.12:15499572:G:A Identity +NM_144651.5:c.3897T>G NP_653252.4:p.Cys1299Trp NC_000008.11:51371876:A:C p.(Cys1299Trp) NC_000008.11:51371876:A:C p.(Cys1299Trp) NC_000008.11:51371876:A:C Identity +NM_001131008.2:c.1745A>C NP_001124480.1:p.Glu582Ala NC_000007.14:77635808:A:C p.(Glu582Ala) NC_000007.14:77635808:A:C p.(Glu582Ala) NC_000007.14:77635808:A:C Identity +NM_080549.4:c.1699G>A NP_536859.1:p.Val567Met NC_000012.12:6960687:G:A p.(Val567Met) NC_000012.12:6960687:G:A p.(Val567Met) NC_000012.12:6960687:G:A Identity +NM_002833.4:c.1270A>G NP_002824.1:p.Ile424Val NC_000015.10:75470768:T:C p.(Ile424Val) NC_000015.10:75470768:T:C p.(Ile424Val) NC_000015.10:75470768:T:C Identity +NM_002838.5:c.3874C>T NP_002829.3:p.His1292Tyr NC_000001.11:198756133:C:T p.(His1292Tyr) NC_000001.11:198756133:C:T p.(His1292Tyr) NC_000001.11:198756133:C:T Identity +NM_001328664.2:c.2773T>G NP_001315593.1:p.Ser925Ala NC_000001.11:94177874:A:C p.(Ser925Ala) NC_000001.11:94177874:A:C p.(Ser925Ala) NC_000001.11:94177874:A:C Identity +NM_001375471.1:c.4171C>T NP_001362400.1:p.Pro1391Ser NC_000003.12:62293226:C:T p.(Pro1391Ser) NC_000003.12:62293226:C:T p.(Pro1391Ser) NC_000003.12:62293226:C:T Identity +NM_002843.4:c.4007T>A NP_002834.3:p.Ile1336Asn NC_000011.10:48167354:T:A p.(Ile1336Asn) NC_000011.10:48167354:T:A p.(Ile1336Asn) NC_000011.10:48167354:T:A Identity +NM_001308267.2:c.883G>A NP_001295196.1:p.Ala295Thr NC_000007.14:158138428:C:T p.(Ala295Thr) NC_000007.14:158138428:C:T p.(Ala295Thr) NC_000007.14:158138428:C:T Identity +NM_005049.3:c.461A>C NP_005040.2:p.Asp154Ala NC_000021.9:44114758:A:C p.(Asp154Ala) NC_000021.9:44114758:A:C p.(Asp154Ala) NC_000021.9:44114758:A:C Identity +NM_002862.4:c.1325T>C NP_002853.2:p.Met442Thr NC_000020.11:25281033:T:C p.(Met442Thr) NC_000020.11:25281033:T:C p.(Met442Thr) NC_000020.11:25281033:T:C Identity +NM_001272073.2:c.37C>T NP_001259002.1:p.Leu13Phe NC_000003.12:49104696:G:A p.(Leu13Phe) NC_000003.12:49104696:G:A p.(Leu13Phe) NC_000003.12:49104696:G:A Identity +NM_001172630.2:c.2828T>C NP_001166101.1:p.Phe943Ser NC_000019.10:35787884:T:C p.(Phe943Ser) NC_000019.10:35787884:T:C p.(Phe943Ser) NC_000019.10:35787884:T:C Identity +NM_017516.3:c.95G>A NP_059986.1:p.Arg32His NC_000011.10:107928662:G:A p.(Arg32His) NC_000011.10:107928662:G:A p.(Arg32His) NC_000011.10:107928662:G:A Identity +NM_004581.5:c.604C>T NP_004572.3:p.Arg202Cys NC_000014.9:24269517:G:A p.(Arg202Cys) NC_000014.9:24269517:G:A p.(Arg202Cys) NC_000014.9:24269517:G:A Identity +NM_001308207.1:c.1151G>T NP_001295136.1:p.Ser384Ile NC_000008.11:144547934:C:A p.(Ser384Ile) NC_000008.11:144547934:C:A p.(Ser384Ile) NC_000008.11:144547934:C:A Identity +NM_001142548.2:c.2005G>A NP_001136020.1:p.Glu669Lys NC_000001.11:46277951:G:A p.(Glu669Lys) NC_000001.11:46277951:G:A p.(Glu669Lys) NC_000001.11:46277951:G:A Identity +NM_012413.4:c.19C>T NP_036545.1:p.Arg7Trp NC_000002.12:37344749:C:T p.(Arg7Trp) NC_000002.12:37344749:C:T p.(Arg7Trp) NC_000002.12:37344749:C:T Identity +NM_001330121.2:c.1466C>T NP_001317050.1:p.Ala489Val NC_000012.12:57269932:G:A p.(Ala489Val) NC_000012.12:57269932:G:A p.(Ala489Val) NC_000012.12:57269932:G:A Identity +NM_001370401.1:c.703G>C NP_001357330.1:p.Gly235Arg NC_000016.10:426708:G:C p.(Gly235Arg) NC_000016.10:426708:G:C p.(Gly235Arg) NC_000016.10:426708:G:C Identity +NM_005732.4:c.624G>T NP_005723.2:p.Met208Ile NC_000005.10:132579933:G:T p.(Met208Ile) NC_000005.10:132579933:G:T p.(Met208Ile) NC_000005.10:132579933:G:T Identity +NM_001172732.2:c.867A>C NP_001166203.2:p.Glu289Asp NC_000023.11:17800993:T:G p.(Glu289Asp) NC_000023.11:17800993:T:G p.(Glu289Asp) NC_000023.11:17800993:T:G Identity +NM_001042368.3:c.1808C>T NP_001035827.1:p.Thr603Ile NC_000009.12:133102511:G:A p.(Thr603Ile) NC_000009.12:133102511:G:A p.(Thr603Ile) NC_000009.12:133102511:G:A Identity +NM_001042368.3:c.253G>A NP_001035827.1:p.Val85Ile NC_000009.12:133110365:C:T p.(Val85Ile) NC_000009.12:133110365:C:T p.(Val85Ile) NC_000009.12:133110365:C:T Identity +NM_001282862.2:c.1300G>T NP_001269791.1:p.Val434Leu NC_000010.11:43197047:C:A p.(Val434Leu) NC_000010.11:43197047:C:A p.(Val434Leu) NC_000010.11:43197047:C:A Identity +NM_001146202.2:c.200A>T NP_001139674.1:p.Gln67Leu NC_000019.10:38421976:T:A p.(Gln67Leu) NC_000019.10:38421976:T:A p.(Gln67Leu) NC_000019.10:38421976:T:A Identity +NM_001003792.3:c.940A>G NP_001003792.1:p.Met314Val NC_000003.12:29936139:A:G p.(Met314Val) NC_000003.12:29936139:A:G p.(Met314Val) NC_000003.12:29936139:A:G Identity +NM_014469.5:c.203A>C NP_055284.3:p.Asp68Ala NC_000011.10:7089322:A:C p.(Asp68Ala) NC_000011.10:7089322:A:C p.(Asp68Ala) NC_000011.10:7089322:A:C Identity +NM_001323517.1:c.491C>G NP_001310446.1:p.Pro164Arg NC_000010.11:93593899:G:C p.(Pro164Arg) NC_000010.11:93593899:G:C p.(Pro164Arg) NC_000010.11:93593899:G:C Identity +NM_001346229.2:c.2926C>T NP_001333158.1:p.His976Tyr NC_000018.10:62274042:C:T p.(His976Tyr) NC_000018.10:62274042:C:T p.(His976Tyr) NC_000018.10:62274042:C:T Identity +NM_001007089.4:c.521A>G NP_001007090.3:p.Lys174Arg NC_000002.12:219329196:T:C p.(Lys174Arg) NC_000002.12:219329196:T:C p.(Lys174Arg) NC_000002.12:219329196:T:C Identity +NM_001355216.2:c.517G>C NP_001342145.1:p.Val173Leu NC_000010.11:43111221:G:C p.(Val173Leu) NC_000010.11:43111221:G:C p.(Val173Leu) NC_000010.11:43111221:G:C Identity +NM_001406743.1:c.3301C>T NP_001393672.1:p.Leu1101Phe NC_000010.11:43128224:C:T p.(Leu1101Phe) NC_000010.11:43128224:C:T p.(Leu1101Phe) NC_000010.11:43128224:C:T Identity +NM_017750.4:c.507G>A NP_060220.3:p.Met169Ile NC_000002.12:85350869:C:T p.(Met169Ile) NC_000002.12:85350869:C:T p.(Met169Ile) NC_000002.12:85350869:C:T Identity +NM_001279349.2:c.698C>T NP_001266278.1:p.Ala233Val NC_000009.12:133407007:G:A p.(Ala233Val) NC_000009.12:133407007:G:A p.(Ala233Val) NC_000009.12:133407007:G:A Identity +NM_001204747.2:c.2638A>G NP_001191676.1:p.Ile880Val NC_000004.12:39300314:T:C p.(Ile880Val) NC_000004.12:39300314:T:C p.(Ile880Val) NC_000004.12:39300314:T:C Identity +NM_001329137.2:c.3550C>G NP_001316066.1:p.Gln1184Glu NC_000001.11:43618641:C:G p.(Gln1184Glu) NC_000001.11:43618641:C:G p.(Gln1184Glu) NC_000001.11:43618641:C:G Identity +NM_001320822.2:c.339C>G NP_001307751.1:p.His113Gln NC_000013.11:114029824:G:C p.(His113Gln) NC_000013.11:114029824:G:C p.(His113Gln) NC_000013.11:114029824:G:C Identity +NM_001366174.1:c.105G>C NP_001353103.1:p.Glu35Asp NC_000019.10:10333402:C:G p.(Glu35Asp) NC_000019.10:10333402:C:G p.(Glu35Asp) NC_000019.10:10333402:C:G Identity +NM_001204456.2:c.1840C>T NP_001191385.1:p.His614Tyr NC_000007.14:5065295:C:T p.(His614Tyr) NC_000007.14:5065295:C:T p.(His614Tyr) NC_000007.14:5065295:C:T Identity +NM_080833.3:c.497A>T NP_543023.2:p.His166Leu NC_000020.11:62415834:T:A p.(His166Leu) NC_000020.11:62415834:T:A p.(His166Leu) NC_000020.11:62415834:T:A Identity +NM_001134363.3:c.1349G>T NP_001127835.2:p.Arg450Leu NC_000010.11:110784351:G:T p.(Arg450Leu) NC_000010.11:110784351:G:T p.(Arg450Leu) NC_000010.11:110784351:G:T Identity +NM_001286631.2:c.1067C>A NP_001273560.1:p.Pro356Gln NC_000013.11:79366700:G:T p.(Pro356Gln) NC_000013.11:79366700:G:T p.(Pro356Gln) NC_000013.11:79366700:G:T Identity +NM_001243738.2:c.1843T>C NP_001230667.1:p.Tyr615His NC_000006.12:33292462:A:G p.(Tyr615His) NC_000006.12:33292462:A:G p.(Tyr615His) NC_000006.12:33292462:A:G Identity +NM_001276260.2:c.626T>G NP_001263189.1:p.Val209Gly NC_000009.12:113584074:T:G p.(Val209Gly) NC_000009.12:113584074:T:G p.(Val209Gly) NC_000009.12:113584074:T:G Identity +NM_001177663.2:c.1220C>T NP_001171134.1:p.Pro407Leu NC_000002.12:151436850:C:T p.(Pro407Leu) NC_000002.12:151436850:C:T p.(Pro407Leu) NC_000002.12:151436850:C:T Identity +NM_014878.5:c.184A>G NP_055693.4:p.Lys62Glu NC_000009.12:2837299:T:C p.(Lys62Glu) NC_000009.12:2837299:T:C p.(Lys62Glu) NC_000009.12:2837299:T:C Identity +NM_001171020.2:c.878C>T NP_001164491.1:p.Thr293Ile NC_000023.11:106206309:C:T p.(Thr293Ile) NC_000023.11:106206309:C:T p.(Thr293Ile) NC_000023.11:106206309:C:T Identity +NM_001142685.2:c.1513T>G NP_001136157.1:p.Ser505Ala NC_000011.10:128981907:A:C p.(Ser505Ala) NC_000011.10:128981907:A:C p.(Ser505Ala) NC_000011.10:128981907:A:C Identity +NM_001004128.3:c.77G>T NP_001004128.1:p.Gly26Val NC_000001.11:180154983:G:T p.(Gly26Val) NC_000001.11:180154983:G:T p.(Gly26Val) NC_000001.11:180154983:G:T Identity +NM_001136108.3:c.883C>G NP_001129580.2:p.Gln295Glu NC_000008.11:23291390:C:G p.(Gln295Glu) NC_000008.11:23291390:C:G p.(Gln295Glu) NC_000008.11:23291390:C:G Identity +NM_138774.4:c.446G>C NP_620129.2:p.Gly149Ala NC_000019.10:900857:C:G p.(Gly149Ala) NC_000019.10:900857:C:G p.(Gly149Ala) NC_000019.10:900857:C:G Identity +NM_032932.6:c.127G>T NP_116321.2:p.Ala43Ser NC_000017.11:31391978:G:T p.(Ala43Ser) NC_000017.11:31391978:G:T p.(Ala43Ser) NC_000017.11:31391978:G:T Identity +NM_001308207.1:c.1131G>C NP_001295136.1:p.Lys377Asn NC_000008.11:144547954:C:G p.(Lys377Asn) NC_000008.11:144547954:C:G p.(Lys377Asn) NC_000008.11:144547954:C:G Identity +NM_001164270.2:c.320A>T NP_001157742.1:p.Lys107Ile NC_000015.10:40706270:A:T p.(Lys107Ile) NC_000015.10:40706270:A:T p.(Lys107Ile) NC_000015.10:40706270:A:T Identity +NM_001017526.2:c.1080C>G NP_001017526.1:p.Ser360= NC_000022.11:44862279:C:G p.(Ser360=) NC_000022.11:44862279:C:G p.(Ser360=) NC_000022.11:44862279:C:G Identity +NM_001286531.2:c.874A>T NP_001273460.1:p.Thr292Ser NC_000012.12:110522375:A:T p.(Thr292Ser) NC_000012.12:110522375:A:T p.(Thr292Ser) NC_000012.12:110522375:A:T Identity +NM_001080156.3:c.182C>G NP_001073625.1:p.Pro61Arg NC_000012.12:57477480:G:C p.(Pro61Arg) NC_000012.12:57477480:G:C p.(Pro61Arg) NC_000012.12:57477480:G:C Identity +NM_005493.3:c.260C>T NP_005484.2:p.Pro87Leu NC_000006.12:13711245:G:A p.(Pro87Leu) NC_000006.12:13711245:G:A p.(Pro87Leu) NC_000006.12:13711245:G:A Identity +NM_001100588.3:c.53A>G NP_001094058.1:p.Tyr18Cys NC_000009.12:122897456:T:C p.(Tyr18Cys) NC_000009.12:122897456:T:C p.(Tyr18Cys) NC_000009.12:122897456:T:C Identity +NM_001145971.2:c.595G>A NP_001139443.1:p.Ala199Thr NC_000019.10:55048391:C:T p.(Ala199Thr) NC_000019.10:55048391:C:T p.(Ala199Thr) NC_000019.10:55048391:C:T Identity +NM_001199771.3:c.338G>T NP_001186700.1:p.Gly113Val NC_000012.12:55721715:G:T p.(Gly113Val) NC_000012.12:55721715:G:T p.(Gly113Val) NC_000012.12:55721715:G:T Identity +NM_001346599.2:c.803A>T NP_001333528.1:p.Asn268Ile NC_000007.14:105550094:A:T p.(Asn268Ile) NC_000007.14:105550094:A:T p.(Asn268Ile) NC_000007.14:105550094:A:T Identity +NM_005615.5:c.137G>A NP_005606.1:p.Cys46Tyr NC_000014.9:20781835:G:A p.(Cys46Tyr) NC_000014.9:20781835:G:A p.(Cys46Tyr) NC_000014.9:20781835:G:A Identity +NM_000966.6:c.490C>T NP_000957.1:p.Arg164Trp NC_000012.12:53214591:G:A p.(Arg164Trp) NC_000012.12:53214591:G:A p.(Arg164Trp) NC_000012.12:53214591:G:A Identity +NM_006788.4:c.696A>C NP_006779.1:p.Arg232Ser NC_000018.10:9517295:A:C p.(Arg232Ser) NC_000018.10:9517295:A:C p.(Arg232Ser) NC_000018.10:9517295:A:C Identity +NM_001190728.1:c.1004C>G NP_001177657.1:p.Pro335Arg NC_000009.12:127195183:C:G p.(Pro335Arg) NC_000009.12:127195183:C:G p.(Pro335Arg) NC_000009.12:127195183:C:G Identity +NM_001320239.2:c.13A>G NP_001307168.1:p.Thr5Ala NC_000016.10:67806523:T:C p.(Thr5Ala) NC_000016.10:67806523:T:C p.(Thr5Ala) NC_000016.10:67806523:T:C Identity +NM_001366174.1:c.172C>G NP_001353103.1:p.Arg58Gly NC_000019.10:10333335:G:C p.(Arg58Gly) NC_000019.10:10333335:G:C p.(Arg58Gly) NC_000019.10:10333335:G:C Identity +NM_001198838.2:c.1757G>C NP_001185767.1:p.Gly586Ala NC_000020.11:35653565:C:G p.(Gly586Ala) NC_000020.11:35653565:C:G p.(Gly586Ala) NC_000020.11:35653565:C:G Identity +NM_001377960.1:c.1813C>T NP_001364889.1:p.Arg605Cys NC_000008.11:93734597:G:A p.(Arg605Cys) NC_000008.11:93734597:G:A p.(Arg605Cys) NC_000008.11:93734597:G:A Identity +NM_001003715.4:c.1045C>T NP_001003715.1:p.Arg349Trp NC_000017.11:75658401:G:A p.(Arg349Trp) NC_000017.11:75658401:G:A p.(Arg349Trp) NC_000017.11:75658401:G:A Identity +NM_024730.4:c.14T>G NP_079006.1:p.Leu5Trp NC_000012.12:18089269:A:C p.(Leu5Trp) NC_000012.12:18089269:A:C p.(Leu5Trp) NC_000012.12:18089269:A:C Identity +NM_001135255.2:c.4G>T NP_001128727.1:p.Ala2Ser NC_000001.11:32651309:G:T p.(Ala2Ser) NC_000001.11:32651309:G:T p.(Ala2Ser) NC_000001.11:32651309:G:T Identity +NM_006910.5:c.3557C>A NP_008841.2:p.Pro1186His NC_000016.10:24570246:C:A p.(Pro1186His) NC_000016.10:24570246:C:A p.(Pro1186His) NC_000016.10:24570246:C:A Identity +NM_001286431.2:c.1754A>T NP_001273360.1:p.Glu585Val NC_000006.12:111376366:T:A p.(Glu585Val) NC_000006.12:111376366:T:A p.(Glu585Val) NC_000006.12:111376366:T:A Identity +NM_020695.4:c.2793G>T NP_065746.3:p.Glu931Asp NC_000019.10:1818814:C:A p.(Glu931Asp) NC_000019.10:1818814:C:A p.(Glu931Asp) NC_000019.10:1818814:C:A Identity +NM_001393612.1:c.412A>G NP_001380541.1:p.Ile138Val NC_000022.11:29441666:A:G p.(Ile138Val) NC_000022.11:29441666:A:G p.(Ile138Val) NC_000022.11:29441666:A:G Identity +NM_182588.3:c.5032G>T NP_872394.2:p.Ala1678Ser NC_000002.12:107880074:G:T p.(Ala1678Ser) NC_000002.12:107880074:G:T p.(Ala1678Ser) NC_000002.12:107880074:G:T Identity +NM_182588.3:c.5146G>T NP_872394.2:p.Val1716Phe NC_000002.12:107882752:G:T p.(Val1716Phe) NC_000002.12:107882752:G:T p.(Val1716Phe) NC_000002.12:107882752:G:T Identity +NM_005435.4:c.1271G>T NP_005426.2:p.Gly424Val NC_000007.14:144363939:G:T p.(Gly424Val) NC_000007.14:144363939:G:T p.(Gly424Val) NC_000007.14:144363939:G:T Identity +NM_001276260.2:c.197A>G NP_001263189.1:p.Asp66Gly NC_000009.12:113583645:A:G p.(Asp66Gly) NC_000009.12:113583645:A:G p.(Asp66Gly) NC_000009.12:113583645:A:G Identity +NM_001242359.2:c.712G>T NP_001229288.1:p.Ala238Ser NC_000010.11:60888955:C:A p.(Ala238Ser) NC_000010.11:60888955:C:A p.(Ala238Ser) NC_000010.11:60888955:C:A Identity +NM_052924.3:c.1672G>C NP_443156.2:p.Val558Leu NC_000008.11:143381842:G:C p.(Val558Leu) NC_000008.11:143381842:G:C p.(Val558Leu) NC_000008.11:143381842:G:C Identity +NM_001304802.2:c.496A>C NP_001291731.1:p.Thr166Pro NC_000015.10:40751453:T:G p.(Thr166Pro) NC_000015.10:40751453:T:G p.(Thr166Pro) NC_000015.10:40751453:T:G Identity +NM_017909.4:c.142C>A NP_060379.2:p.Gln48Lys NC_000006.12:151445669:G:T p.(Gln48Lys) NC_000006.12:151445669:G:T p.(Gln48Lys) NC_000006.12:151445669:G:T Identity +NM_001201365.2:c.734C>A NP_001188294.1:p.Ala245Asp NC_000005.10:141978729:C:A p.(Ala245Asp) NC_000005.10:141978729:C:A p.(Ala245Asp) NC_000005.10:141978729:C:A Identity +NM_001286431.2:c.34G>A NP_001273360.1:p.Ala12Thr NC_000006.12:111416343:C:T p.(Ala12Thr) NC_000006.12:111416343:C:T p.(Ala12Thr) NC_000006.12:111416343:C:T Identity +NM_001098527.3:c.430A>G NP_001091997.2:p.Met144Val NC_000022.11:32193027:T:C p.(Met144Val) NC_000022.11:32193027:T:C p.(Met144Val) NC_000022.11:32193027:T:C Identity +NM_003958.4:c.841A>G NP_003949.1:p.Asn281Asp NC_000006.12:37369083:A:G p.(Asn281Asp) NC_000006.12:37369083:A:G p.(Asn281Asp) NC_000006.12:37369083:A:G Identity +NM_001042369.2:c.571T>G NP_001035828.1:p.Ser191Ala NC_000001.11:193069624:T:G p.(Ser191Ala) NC_000001.11:193069624:T:G p.(Ser191Ala) NC_000001.11:193069624:T:G Identity +NM_178857.6:c.6091G>A NP_849188.4:p.Gly2031Ser NC_000008.11:10608006:C:T p.(Gly2031Ser) NC_000008.11:10608006:C:T p.(Gly2031Ser) NC_000008.11:10608006:C:T Identity +NM_018071.5:c.1036G>A NP_060541.3:p.Gly346Arg NC_000014.9:21074765:G:A p.(Gly346Arg) NC_000014.9:21074765:G:A p.(Gly346Arg) NC_000014.9:21074765:G:A Identity +NM_001204416.3:c.1272C>A NP_001191345.1:p.Asp424Glu NC_000014.9:72518530:C:A p.(Asp424Glu) NC_000014.9:72518530:C:A p.(Asp424Glu) NC_000014.9:72518530:C:A Identity +NM_001137669.2:c.626A>G NP_001131141.1:p.His209Arg NC_000001.11:182473736:A:G p.(His209Arg) NC_000001.11:182473736:A:G p.(His209Arg) NC_000001.11:182473736:A:G Identity +NM_019592.7:c.2612C>T NP_062538.5:p.Thr871Ile NC_000009.12:101561192:C:T p.(Thr871Ile) NC_000009.12:101561192:C:T p.(Thr871Ile) NC_000009.12:101561192:C:T Identity +NM_207111.4:c.362C>T NP_996994.1:p.Ser121Phe NC_000007.14:5741654:G:A p.(Ser121Phe) NC_000007.14:5741654:G:A p.(Ser121Phe) NC_000007.14:5741654:G:A Identity +NM_001134337.3:c.27C>G NP_001127809.1:p.Asn9Lys NC_000020.11:3963990:G:C p.(Asn9Lys) NC_000020.11:3963990:G:C p.(Asn9Lys) NC_000020.11:3963990:G:C Identity +NM_021133.4:c.22A>C NP_066956.1:p.Asn8His NC_000001.11:182586784:T:G p.(Asn8His) NC_000001.11:182586784:T:G p.(Asn8His) NC_000001.11:182586784:T:G Identity +NM_022453.3:c.872C>G NP_071898.2:p.Ala291Gly NC_000002.12:218664464:G:C p.(Ala291Gly) NC_000002.12:218664464:G:C p.(Ala291Gly) NC_000002.12:218664464:G:C Identity +NM_014786.4:c.341C>A NP_055601.2:p.Ala114Glu NC_000011.10:73308978:C:A p.(Ala114Glu) NC_000011.10:73308978:C:A p.(Ala114Glu) NC_000011.10:73308978:C:A Identity +NM_001099695.2:c.640C>G NP_001093165.1:p.Arg214Gly NC_000007.14:150371709:C:G p.(Arg214Gly) NC_000007.14:150371709:C:G p.(Arg214Gly) NC_000007.14:150371709:C:G Identity +NM_001319182.2:c.1354G>A NP_001306111.1:p.Asp452Asn NC_000001.11:202004448:G:A p.(Asp452Asn) NC_000001.11:202004448:G:A p.(Asp452Asn) NC_000001.11:202004448:G:A Identity +NM_022370.4:c.2711T>C NP_071765.2:p.Leu904Pro NC_000011.10:124876391:T:C p.(Leu904Pro) NC_000011.10:124876391:T:C p.(Leu904Pro) NC_000011.10:124876391:T:C Identity +NM_001365023.1:c.1369T>C NP_001351952.1:p.Tyr457His NC_000009.12:74685573:T:C p.(Tyr457His) NC_000009.12:74685573:T:C p.(Tyr457His) NC_000009.12:74685573:T:C Identity +NM_000449.4:c.1481A>G NP_000440.1:p.Gln494Arg NC_000001.11:151342555:T:C p.(Gln494Arg) NC_000001.11:151342555:T:C p.(Gln494Arg) NC_000001.11:151342555:T:C Identity +NM_014059.3:c.163G>A NP_054778.2:p.Glu55Lys NC_000013.11:41458397:G:A p.(Glu55Lys) NC_000013.11:41458397:G:A p.(Glu55Lys) NC_000013.11:41458397:G:A Identity +NM_001243738.2:c.994C>T NP_001230667.1:p.His332Tyr NC_000006.12:33295014:G:A p.(His332Tyr) NC_000006.12:33295014:G:A p.(His332Tyr) NC_000006.12:33295014:G:A Identity +NM_001166283.2:c.517C>G NP_001159755.1:p.Leu173Val NC_000015.10:93052144:G:C p.(Leu173Val) NC_000015.10:93052144:G:C p.(Leu173Val) NC_000015.10:93052144:G:C Identity +NM_001394154.1:c.3521T>C NP_001381083.1:p.Ile1174Thr NC_000004.12:3428666:T:C p.(Ile1174Thr) NC_000004.12:3428666:T:C p.(Ile1174Thr) NC_000004.12:3428666:T:C Identity +NM_001304746.2:c.713G>A NP_001291675.1:p.Arg238His NC_000001.11:38911356:C:T p.(Arg238His) NC_000001.11:38911356:C:T p.(Arg238His) NC_000001.11:38911356:C:T Identity +NM_001385907.1:c.544T>G NP_001372836.1:p.Phe182Val NC_000009.12:32492417:A:C p.(Phe182Val) NC_000009.12:32492417:A:C p.(Phe182Val) NC_000009.12:32492417:A:C Identity +NM_001270491.2:c.400G>A NP_001257420.1:p.Val134Ile NC_000019.10:49491785:G:A p.(Val134Ile) NC_000019.10:49491785:G:A p.(Val134Ile) NC_000019.10:49491785:G:A Identity +NM_000992.3:c.359G>C NP_000983.1:p.Arg120Pro NC_000003.12:51993869:C:G p.(Arg120Pro) NC_000003.12:51993869:C:G p.(Arg120Pro) NC_000003.12:51993869:C:G Identity +NM_000968.4:c.1106C>G NP_000959.2:p.Ala369Gly NC_000015.10:66499584:G:C p.(Ala369Gly) NC_000015.10:66499584:G:C p.(Ala369Gly) NC_000015.10:66499584:G:C Identity +NM_001006665.2:c.350G>A NP_001006666.1:p.Arg117Gln NC_000001.11:26551411:G:A p.(Arg117Gln) NC_000001.11:26551411:G:A p.(Arg117Gln) NC_000001.11:26551411:G:A Identity +NM_001003698.4:c.3889G>A NP_001003698.1:p.Glu1297Lys NC_000006.12:7246503:G:A p.(Glu1297Lys) NC_000006.12:7246503:G:A p.(Glu1297Lys) NC_000006.12:7246503:G:A Identity +NM_015169.4:c.1018G>A NP_055984.1:p.Gly340Ser NC_000008.11:66430148:G:A p.(Gly340Ser) NC_000008.11:66430148:G:A p.(Gly340Ser) NC_000008.11:66430148:G:A Identity +NM_014433.3:c.313C>G NP_055248.1:p.Leu105Val NC_000022.11:23134133:G:C p.(Leu105Val) NC_000022.11:23134133:G:C p.(Leu105Val) NC_000022.11:23134133:G:C Identity +NM_030785.4:c.1028G>A NP_110412.1:p.Arg343His NC_000019.10:45804876:C:T p.(Arg343His) NC_000019.10:45804876:C:T p.(Arg343His) NC_000019.10:45804876:C:T Identity +NM_001105247.2:c.1545C>G NP_001098717.1:p.Ile515Met NC_000016.10:31464567:C:G p.(Ile515Met) NC_000016.10:31464567:C:G p.(Ile515Met) NC_000016.10:31464567:C:G Identity +NM_001078171.2:c.332A>G NP_001071639.1:p.Glu111Gly NC_000023.11:135032714:A:G p.(Glu111Gly) NC_000023.11:135032714:A:G p.(Glu111Gly) NC_000023.11:135032714:A:G Identity +NM_001322335.2:c.193C>T NP_001309264.1:p.Leu65Phe NC_000006.12:83195810:C:T p.(Leu65Phe) NC_000006.12:83195810:C:T p.(Leu65Phe) NC_000006.12:83195810:C:T Identity +NM_025065.7:c.383C>G NP_079341.2:p.Ala128Gly NC_000001.11:84489648:C:G p.(Ala128Gly) NC_000001.11:84489648:C:G p.(Ala128Gly) NC_000001.11:84489648:C:G Identity +NM_001104546.2:c.497G>A NP_001098016.1:p.Arg166Lys NC_000010.11:90894838:G:A p.(Arg166Lys) NC_000010.11:90894838:G:A p.(Arg166Lys) NC_000010.11:90894838:G:A Identity +NM_001028.3:c.8C>T NP_001019.1:p.Pro3Leu NC_000011.10:119018048:G:A p.(Pro3Leu) NC_000011.10:119018048:G:A p.(Pro3Leu) NC_000011.10:119018048:G:A Identity +NM_001006932.3:c.1429A>G NP_001006933.3:p.Ile477Val NC_000006.12:166432417:T:C p.(Ile477Val) NC_000006.12:166432417:T:C p.(Ile477Val) NC_000006.12:166432417:T:C Identity +NM_001161009.3:c.218C>T NP_001154481.1:p.Thr73Met NC_000007.14:103083759:C:T p.(Thr73Met) NC_000007.14:103083759:C:T p.(Thr73Met) NC_000007.14:103083759:C:T Identity +NM_001303411.2:c.644A>G NP_001290340.1:p.Gln215Arg NC_000018.10:36026936:T:C p.(Gln215Arg) NC_000018.10:36026936:T:C p.(Gln215Arg) NC_000018.10:36026936:T:C Identity +NM_001161009.3:c.592A>T NP_001154481.1:p.Asn198Tyr NC_000007.14:103092644:A:T p.(Asn198Tyr) NC_000007.14:103092644:A:T p.(Asn198Tyr) NC_000007.14:103092644:A:T Identity +NM_001042576.2:c.2614C>A NP_001036041.2:p.Gln872Lys NC_000020.11:17615963:G:T p.(Gln872Lys) NC_000020.11:17615963:G:T p.(Gln872Lys) NC_000020.11:17615963:G:T Identity +NM_001015055.2:c.896G>A NP_001015055.1:p.Arg299His NC_000002.12:74428691:C:T p.(Arg299His) NC_000002.12:74428691:C:T p.(Arg299His) NC_000002.12:74428691:C:T Identity +NM_001385449.1:c.2053A>G NP_001372378.1:p.Thr685Ala NC_000023.11:110452669:A:G p.(Thr685Ala) NC_000023.11:110452669:A:G p.(Thr685Ala) NC_000023.11:110452669:A:G Identity +NM_001265589.2:c.2384G>A NP_001252518.1:p.Arg795His NC_000011.10:63720885:G:A p.(Arg795His) NC_000011.10:63720885:G:A p.(Arg795His) NC_000011.10:63720885:G:A Identity +NM_001265589.2:c.3090G>T NP_001252518.1:p.Lys1030Asn NC_000011.10:63758191:G:T p.(Lys1030Asn) NC_000011.10:63758191:G:T p.(Lys1030Asn) NC_000011.10:63758191:G:T Identity +NM_001318520.2:c.1680T>G NP_001305449.1:p.Ile560Met NC_000018.10:70075499:A:C p.(Ile560Met) NC_000018.10:70075499:A:C p.(Ile560Met) NC_000018.10:70075499:A:C Identity +NM_001394232.1:c.234G>T NP_001381161.1:p.Met78Ile NC_000001.11:153537340:C:A p.(Met78Ile) NC_000001.11:153537340:C:A p.(Met78Ile) NC_000001.11:153537340:C:A Identity +NM_001346505.2:c.3085G>A NP_001333434.1:p.Gly1029Ser NC_000006.12:148544689:G:A p.(Gly1029Ser) NC_000006.12:148544689:G:A p.(Gly1029Ser) NC_000006.12:148544689:G:A Identity +NM_001317968.2:c.680G>A NP_001304897.1:p.Gly227Asp NC_000009.12:137614359:G:A p.(Gly227Asp) NC_000009.12:137614359:G:A p.(Gly227Asp) NC_000009.12:137614359:G:A Identity +NM_183376.3:c.61G>C NP_899232.2:p.Gly21Arg NC_000015.10:97960921:G:C p.(Gly21Arg) NC_000015.10:97960921:G:C p.(Gly21Arg) NC_000015.10:97960921:G:C Identity +NM_001177984.3:c.2357C>T NP_001171455.1:p.Ala786Val NC_000012.12:51751579:C:T p.(Ala786Val) NC_000012.12:51751579:C:T p.(Ala786Val) NC_000012.12:51751579:C:T Identity +NM_015356.5:c.1045G>A NP_056171.3:p.Val349Ile NC_000008.11:143811206:C:T p.(Val349Ile) NC_000008.11:143811206:C:T p.(Val349Ile) NC_000008.11:143811206:C:T Identity +NM_001170690.3:c.1997C>T NP_001164161.1:p.Thr666Met NC_000011.10:9029924:G:A p.(Thr666Met) NC_000011.10:9029924:G:A p.(Thr666Met) NC_000011.10:9029924:G:A Identity +NM_001048218.2:c.1949G>T NP_001041683.1:p.Ser650Ile NC_000011.10:65537848:G:T p.(Ser650Ile) NC_000011.10:65537848:G:T p.(Ser650Ile) NC_000011.10:65537848:G:T Identity +NM_001395848.1:c.538C>T NP_001382777.1:p.His180Tyr NC_000009.12:89001737:C:T p.(His180Tyr) NC_000009.12:89001737:C:T p.(His180Tyr) NC_000009.12:89001737:C:T Identity +NM_171999.4:c.190G>A NP_741996.2:p.Ala64Thr NC_000018.10:78992180:G:A p.(Ala64Thr) NC_000018.10:78992180:G:A p.(Ala64Thr) NC_000018.10:78992180:G:A Identity +NM_001100122.2:c.1570C>T NP_001093592.1:p.Arg524Cys NC_000019.10:1116889:G:A p.(Arg524Cys) NC_000019.10:1116889:G:A p.(Arg524Cys) NC_000019.10:1116889:G:A Identity +NM_001286188.1:c.2951A>G NP_001273117.1:p.Gln984Arg NC_000006.12:154832295:A:G p.(Gln984Arg) NC_000006.12:154832295:A:G p.(Gln984Arg) NC_000006.12:154832295:A:G Identity +NM_001669.4:c.917C>G NP_001660.2:p.Pro306Arg NC_000023.11:2915638:G:C p.(Pro306Arg) NC_000023.11:2915638:G:C p.(Pro306Arg) NC_000023.11:2915638:G:C Identity +NM_004057.3:c.188G>A NP_004048.1:p.Gly63Glu NC_000023.11:16654456:G:A p.(Gly63Glu) NC_000023.11:16654456:G:A p.(Gly63Glu) NC_000023.11:16654456:G:A Identity +NM_014649.3:c.2795G>T NP_055464.1:p.Arg932Leu NC_000019.10:5587309:C:A p.(Arg932Leu) NC_000019.10:5587309:C:A p.(Arg932Leu) NC_000019.10:5587309:C:A Identity +NM_001170753.2:c.506G>A NP_001164224.1:p.Arg169Gln NC_000011.10:61484811:G:A p.(Arg169Gln) NC_000011.10:61484811:G:A p.(Arg169Gln) NC_000011.10:61484811:G:A Identity +NM_001024401.3:c.823C>A NP_001019572.1:p.Pro275Thr NC_000016.10:28320468:C:A p.(Pro275Thr) NC_000016.10:28320468:C:A p.(Pro275Thr) NC_000016.10:28320468:C:A Identity +NM_001288794.2:c.197G>A NP_001275723.1:p.Arg66Gln NC_000005.10:178142639:G:A p.(Arg66Gln) NC_000005.10:178142639:G:A p.(Arg66Gln) NC_000005.10:178142639:G:A Identity +NM_001270528.2:c.1875G>T NP_001257457.1:p.Met625Ile NC_000015.10:59076141:G:T p.(Met625Ile) NC_000015.10:59076141:G:T p.(Met625Ile) NC_000015.10:59076141:G:T Identity +NM_014455.4:c.904T>C NP_055270.1:p.Trp302Arg NC_000001.11:145746876:A:G p.(Trp302Arg) NC_000001.11:145746876:A:G p.(Trp302Arg) NC_000001.11:145746876:A:G Identity +NM_001109903.2:c.211T>G NP_001103373.1:p.Ser71Ala NC_000012.12:116749967:T:G p.(Ser71Ala) NC_000012.12:116749967:T:G p.(Ser71Ala) NC_000012.12:116749967:T:G Identity +NM_002939.4:c.628G>T NP_002930.2:p.Gly210Cys NC_000011.10:498919:C:A p.(Gly210Cys) NC_000011.10:498919:C:A p.(Gly210Cys) NC_000011.10:498919:C:A Identity +NM_152744.4:c.1627G>A NP_689957.3:p.Val543Ile NC_000007.14:3969336:G:A p.(Val543Ile) NC_000007.14:3969336:G:A p.(Val543Ile) NC_000007.14:3969336:G:A Identity +NM_001276418.2:c.4828G>C NP_001263347.1:p.Ala1610Pro NC_000009.12:136462951:C:G p.(Ala1610Pro) NC_000009.12:136462951:C:G p.(Ala1610Pro) NC_000009.12:136462951:C:G Identity +NM_016275.5:c.46C>T NP_057359.2:p.Arg16Trp NC_000003.12:150603407:C:T p.(Arg16Trp) NC_000003.12:150603407:C:T p.? NC_000003.12:150603407:C:T Identity +NM_001031702.4:c.924C>A NP_001026872.2:p.His308Gln NC_000003.12:122926603:G:T p.(His308Gln) NC_000003.12:122926603:G:T p.(His308Gln) NC_000003.12:122926603:G:T Identity +NM_001198999.2:c.2597C>T NP_001185928.1:p.Ser866Leu NC_000015.10:47771345:C:T p.(Ser866Leu) NC_000015.10:47771345:C:T p.(Ser866Leu) NC_000015.10:47771345:C:T Identity +NM_001308045.2:c.1136A>G NP_001294974.1:p.Glu379Gly NC_000003.12:196886316:A:G p.(Glu379Gly) NC_000003.12:196886316:A:G p.(Glu379Gly) NC_000003.12:196886316:A:G Identity +NM_001291278.2:c.838G>A NP_001278207.1:p.Ala280Thr NC_000018.10:63723318:G:A p.(Ala280Thr) NC_000018.10:63723318:G:A p.(Ala280Thr) NC_000018.10:63723318:G:A Identity +NM_014755.3:c.698C>T NP_055570.1:p.Thr233Met NC_000002.12:64636173:G:A p.(Thr233Met) NC_000002.12:64636173:G:A p.(Thr233Met) NC_000002.12:64636173:G:A Identity +NM_014755.3:c.283G>A NP_055570.1:p.Glu95Lys NC_000002.12:64636588:C:T p.(Glu95Lys) NC_000002.12:64636588:C:T p.(Glu95Lys) NC_000002.12:64636588:C:T Identity +NM_001011719.2:c.1217A>T NP_001011719.1:p.Asn406Ile NC_000023.11:3029263:A:T p.(Asn406Ile) NC_000023.11:3029263:A:T p.(Asn406Ile) NC_000023.11:3029263:A:T Identity +NM_016176.6:c.550G>A NP_057260.3:p.Glu184Lys NC_000001.11:1223249:C:T p.(Glu184Lys) NC_000001.11:1223249:C:T p.(Glu184Lys) NC_000001.11:1223249:C:T Identity +NM_152540.4:c.1444A>C NP_689753.2:p.Thr482Pro NC_000004.12:53145449:T:G p.(Thr482Pro) NC_000004.12:53145449:T:G p.(Thr482Pro) NC_000004.12:53145449:T:G Identity +NM_001081676.2:c.3565A>T NP_001075145.1:p.Thr1189Ser NC_000002.12:165113015:T:A p.(Thr1189Ser) NC_000002.12:165113015:T:A p.(Thr1189Ser) NC_000002.12:165113015:T:A Identity +NM_001177984.3:c.4149T>G NP_001171455.1:p.Asp1383Glu NC_000012.12:51788738:T:G p.(Asp1383Glu) NC_000012.12:51788738:T:G p.(Asp1383Glu) NC_000012.12:51788738:T:G Identity +NM_000047.3:c.1406G>A NP_000038.2:p.Arg469Gln NC_000023.11:2936746:C:T p.(Arg469Gln) NC_000023.11:2936746:C:T p.(Arg469Gln) NC_000023.11:2936746:C:T Identity +NM_015356.5:c.4087C>G NP_056171.3:p.Leu1363Val NC_000008.11:143792797:G:C p.(Leu1363Val) NC_000008.11:143792797:G:C p.(Leu1363Val) NC_000008.11:143792797:G:C Identity +NM_001288984.2:c.88C>T NP_001275913.1:p.Arg30Cys NC_000004.12:75977671:G:A p.(Arg30Cys) NC_000004.12:75977671:G:A p.(Arg30Cys) NC_000004.12:75977671:G:A Identity +NM_001042734.4:c.529C>T NP_001036199.1:p.Pro177Ser NC_000004.12:109463295:C:T p.(Pro177Ser) NC_000004.12:109463295:C:T p.(Pro177Ser) NC_000004.12:109463295:C:T Identity +NM_004922.4:c.2930A>G NP_004913.2:p.Asn977Ser NC_000010.11:73770346:A:G p.(Asn977Ser) NC_000010.11:73770346:A:G p.(Asn977Ser) NC_000010.11:73770346:A:G Identity +NM_001351527.2:c.6586A>G NP_001338456.1:p.Ile2196Val NC_000009.12:132281534:T:C p.(Ile2196Val) NC_000009.12:132281534:T:C p.(Ile2196Val) NC_000009.12:132281534:T:C Identity +NM_001308203.2:c.1553C>T NP_001295132.1:p.Thr518Met NC_000001.11:66739446:C:T p.(Thr518Met) NC_000001.11:66739446:C:T p.(Thr518Met) NC_000001.11:66739446:C:T Identity +NM_001386583.1:c.512G>A NP_001373512.1:p.Gly171Glu NC_000019.10:6754715:C:T p.(Gly171Glu) NC_000019.10:6754715:C:T p.(Gly171Glu) NC_000019.10:6754715:C:T Identity +NM_001350055.2:c.1168C>T NP_001336984.1:p.Arg390Cys NC_000022.11:37647489:C:T p.(Arg390Cys) NC_000022.11:37647489:C:T p.(Arg390Cys) NC_000022.11:37647489:C:T Identity +NM_016148.5:c.2405C>G NP_057232.2:p.Pro802Arg NC_000019.10:50686796:G:C p.(Pro802Arg) NC_000019.10:50686796:G:C p.(Pro802Arg) NC_000019.10:50686796:G:C Identity +NM_203349.4:c.1028A>C NP_976224.3:p.Lys343Thr NC_000015.10:48857733:T:G p.(Lys343Thr) NC_000015.10:48857733:T:G p.(Lys343Thr) NC_000015.10:48857733:T:G Identity +NM_001353497.2:c.1022G>A NP_001340426.1:p.Arg341His NC_000002.12:189667153:G:A p.(Arg341His) NC_000002.12:189667153:G:A p.(Arg341His) NC_000002.12:189667153:G:A Identity +NM_001163678.2:c.154A>G NP_001157150.1:p.Ser52Gly NC_000003.12:158105870:T:C p.(Ser52Gly) NC_000003.12:158105870:T:C p.(Ser52Gly) NC_000003.12:158105870:T:C Identity +NM_001276418.2:c.3142G>T NP_001263347.1:p.Ala1048Ser NC_000009.12:136474473:C:A p.(Ala1048Ser) NC_000009.12:136474473:C:A p.(Ala1048Ser) NC_000009.12:136474473:C:A Identity +NM_015490.4:c.3508G>A NP_056305.1:p.Val1170Ile NC_000010.11:100487647:C:T p.(Val1170Ile) NC_000010.11:100487647:C:T p.(Val1170Ile) NC_000010.11:100487647:C:T Identity +NM_021237.5:c.202G>A NP_067060.2:p.Gly68Arg NC_000003.12:53885904:C:T p.(Gly68Arg) NC_000003.12:53885904:C:T p.? NC_000003.12:53885904:C:T Identity +NM_003966.3:c.2596C>T NP_003957.2:p.Arg866Cys NC_000005.10:9054179:G:A p.(Arg866Cys) NC_000005.10:9054179:G:A p.(Arg866Cys) NC_000005.10:9054179:G:A Identity +NM_012248.4:c.341C>T NP_036380.2:p.Ala114Val NC_000016.10:30445386:G:A p.(Ala114Val) NC_000016.10:30445386:G:A p.? NC_000016.10:30445386:G:A Identity +NM_001410710.1:c.271A>T NP_001397639.1:p.Ser91Cys NC_000023.11:119663551:T:A p.(Ser91Cys) NC_000023.11:119663551:T:A p.(Ser91Cys) NC_000023.11:119663551:T:A Identity +NM_001410710.1:c.782T>G NP_001397639.1:p.Val261Gly NC_000023.11:119640696:A:C p.(Val261Gly) NC_000023.11:119640696:A:C p.(Val261Gly) NC_000023.11:119640696:A:C Identity +NM_001040147.3:c.710T>C NP_001035237.1:p.Met237Thr NC_000018.10:63800977:T:C p.(Met237Thr) NC_000018.10:63800977:T:C p.(Met237Thr) NC_000018.10:63800977:T:C Identity +NM_001375428.1:c.738T>G NP_001362357.1:p.Phe246Leu NC_000001.11:210242003:T:G p.(Phe246Leu) NC_000001.11:210242003:T:G p.(Phe246Leu) NC_000001.11:210242003:T:G Identity +NM_000295.5:c.1138A>G NP_000286.3:p.Ile380Val NC_000014.9:94378567:T:C p.(Ile380Val) NC_000014.9:94378567:T:C p.(Ile380Val) NC_000014.9:94378567:T:C Identity +NM_001202429.2:c.1505G>A NP_001189358.1:p.Gly502Asp NC_000014.9:93939219:C:T p.(Gly502Asp) NC_000014.9:93939219:C:T p.(Gly502Asp) NC_000014.9:93939219:C:T Identity +NM_001042518.2:c.95G>A NP_001035983.2:p.Arg32His NC_000014.9:94469745:C:T p.(Arg32His) NC_000014.9:94469745:C:T p.(Arg32His) NC_000014.9:94469745:C:T Identity +NM_001042518.2:c.200A>G NP_001035983.2:p.Asn67Ser NC_000014.9:94469640:T:C p.(Asn67Ser) NC_000014.9:94469640:T:C p.(Asn67Ser) NC_000014.9:94469640:T:C Identity +NM_001143818.2:c.317C>A NP_001137290.1:p.Ser106Tyr NC_000018.10:63897118:C:A p.(Ser106Tyr) NC_000018.10:63897118:C:A p.(Ser106Tyr) NC_000018.10:63897118:C:A Identity +NM_003683.6:c.350A>G NP_003674.1:p.Lys117Arg NC_000021.9:43793393:A:G p.(Lys117Arg) NC_000021.9:43793393:A:G p.(Lys117Arg) NC_000021.9:43793393:A:G Identity +NM_001363702.1:c.298G>C NP_001350631.1:p.Val100Leu NC_000014.9:59605432:C:G p.(Val100Leu) NC_000014.9:59605432:C:G p.(Val100Leu) NC_000014.9:59605432:C:G Identity +NM_023004.6:c.640G>A NP_075380.1:p.Val214Met NC_000022.11:20242492:C:T p.(Val214Met) NC_000022.11:20242492:C:T p.(Val214Met) NC_000022.11:20242492:C:T Identity +NM_031440.2:c.338G>A NP_113628.1:p.Arg113Lys NC_000003.12:46500537:G:A p.(Arg113Lys) NC_000003.12:46500537:G:A p.(Arg113Lys) NC_000003.12:46500537:G:A Identity +NM_198483.4:c.112G>A NP_940885.2:p.Glu38Lys NC_000002.12:218070817:G:A p.(Glu38Lys) NC_000002.12:218070817:G:A p.(Glu38Lys) NC_000002.12:218070817:G:A Identity +NM_015952.4:c.7G>T NP_057036.2:p.Asp3Tyr NC_000006.12:116571588:G:T p.(Asp3Tyr) NC_000006.12:116571588:G:T p.(Asp3Tyr) NC_000006.12:116571588:G:T Identity +NM_000540.3:c.5180G>A NP_000531.2:p.Arg1727His NC_000019.10:38485834:G:A p.(Arg1727His) NC_000019.10:38485834:G:A p.(Arg1727His) NC_000019.10:38485834:G:A Identity +NM_001256121.2:c.407G>A NP_001243050.1:p.Arg136His NC_000001.11:32826505:G:A p.(Arg136His) NC_000001.11:32826505:G:A p.(Arg136His) NC_000001.11:32826505:G:A Identity +NM_003775.4:c.1114C>T NP_003766.1:p.Arg372Trp NC_000019.10:3179905:C:T p.(Arg372Trp) NC_000019.10:3179905:C:T p.(Arg372Trp) NC_000019.10:3179905:C:T Identity +NM_153334.7:c.2177C>G NP_699165.3:p.Pro726Arg NC_000022.11:20425813:G:C p.(Pro726Arg) NC_000022.11:20425813:G:C p.(Pro726Arg) NC_000022.11:20425813:G:C Identity +NM_000046.5:c.1096A>G NP_000037.2:p.Asn366Asp NC_000005.10:78885629:T:C p.(Asn366Asp) NC_000005.10:78885629:T:C p.(Asn366Asp) NC_000005.10:78885629:T:C Identity +NM_054023.5:c.166C>A NP_473364.1:p.Leu56Met NC_000005.10:147881555:C:A p.(Leu56Met) NC_000005.10:147881555:C:A p.(Leu56Met) NC_000005.10:147881555:C:A Identity +NM_001112706.3:c.524A>G NP_001106177.1:p.Tyr175Cys NC_000007.14:12604520:A:G p.(Tyr175Cys) NC_000007.14:12604520:A:G p.(Tyr175Cys) NC_000007.14:12604520:A:G Identity +NM_001319296.2:c.14T>C NP_001306225.1:p.Met5Thr NC_000012.12:48153482:A:G p.(Met5Thr) NC_000012.12:48153482:A:G p.(Met5Thr) NC_000012.12:48153482:A:G Identity +NM_001098635.2:c.425C>T NP_001092105.1:p.Pro142Leu NC_000017.11:28981669:G:A p.(Pro142Leu) NC_000017.11:28981669:G:A p.(Pro142Leu) NC_000017.11:28981669:G:A Identity +NM_001318480.2:c.2168A>G NP_001305409.2:p.His723Arg NC_000004.12:8228089:A:G p.(His723Arg) NC_000004.12:8228089:A:G p.(His723Arg) NC_000004.12:8228089:A:G Identity +NM_001318480.2:c.185A>G NP_001305409.2:p.Gln62Arg NC_000004.12:8214511:A:G p.(Gln62Arg) NC_000004.12:8214511:A:G p.(Gln62Arg) NC_000004.12:8214511:A:G Identity +NM_001040.5:c.290T>C NP_001031.2:p.Met97Thr NC_000017.11:7630765:T:C p.(Met97Thr) NC_000017.11:7630765:T:C p.(Met97Thr) NC_000017.11:7630765:T:C Identity +NM_001130040.2:c.694A>G NP_001123512.1:p.Ile232Val NC_000001.11:154968550:T:C p.(Ile232Val) NC_000001.11:154968550:T:C p.(Ile232Val) NC_000001.11:154968550:T:C Identity +NM_001207020.3:c.166G>T NP_001193949.1:p.Gly56Trp NC_000022.11:41914501:C:A p.(Gly56Trp) NC_000022.11:41914501:C:A p.(Gly56Trp) NC_000022.11:41914501:C:A Identity +NM_020859.4:c.1935A>C NP_065910.3:p.Glu645Asp NC_000004.12:76740107:A:C p.(Glu645Asp) NC_000004.12:76740107:A:C p.(Glu645Asp) NC_000004.12:76740107:A:C Identity +NM_001135053.2:c.923C>T NP_001128525.1:p.Pro308Leu NC_000011.10:406494:G:A p.(Pro308Leu) NC_000011.10:406494:G:A p.(Pro308Leu) NC_000011.10:406494:G:A Identity +NM_001374769.1:c.1711A>T NP_001361698.1:p.Thr571Ser NC_000006.12:100390950:T:A p.(Thr571Ser) NC_000006.12:100390950:T:A p.(Thr571Ser) NC_000006.12:100390950:T:A Identity +NM_017420.5:c.154C>A NP_059116.3:p.Pro52Thr NC_000014.9:60723920:G:T p.(Pro52Thr) NC_000014.9:60723920:G:T p.(Pro52Thr) NC_000014.9:60723920:G:T Identity +NM_000338.3:c.3154C>T NP_000329.2:p.Leu1052Phe NC_000015.10:48301371:C:T p.(Leu1052Phe) NC_000015.10:48301371:C:T p.(Leu1052Phe) NC_000015.10:48301371:C:T Identity +NM_001160305.4:c.320G>A NP_001153777.1:p.Gly107Asp NC_000016.10:58516082:G:A p.(Gly107Asp) NC_000016.10:58516082:G:A p.(Gly107Asp) NC_000016.10:58516082:G:A Identity +NM_001160305.4:c.341T>A NP_001153777.1:p.Val114Asp NC_000016.10:58516207:T:A p.(Val114Asp) NC_000016.10:58516207:T:A p.(Val114Asp) NC_000016.10:58516207:T:A Identity +NM_001098635.2:c.2359C>A NP_001092105.1:p.Pro787Thr NC_000017.11:28957482:G:T p.(Pro787Thr) NC_000017.11:28957482:G:T p.(Pro787Thr) NC_000017.11:28957482:G:T Identity +NM_001042472.3:c.68C>G NP_001035937.1:p.Ser23Cys NC_000020.11:25390635:G:C p.(Ser23Cys) NC_000020.11:25390635:G:C p.(Ser23Cys) NC_000020.11:25390635:G:C Identity +NM_006142.5:c.311A>T NP_006133.1:p.Asp104Val NC_000001.11:26863522:A:T p.(Asp104Val) NC_000001.11:26863522:A:T p.(Asp104Val) NC_000001.11:26863522:A:T Identity +NM_030791.4:c.649A>G NP_110418.1:p.Ile217Val NC_000014.9:63727295:T:C p.(Ile217Val) NC_000014.9:63727295:T:C p.(Ile217Val) NC_000014.9:63727295:T:C Identity +NM_001159597.3:c.211C>T NP_001153069.1:p.Arg71Cys NC_000002.12:249745:G:A p.(Arg71Cys) NC_000002.12:249745:G:A p.(Arg71Cys) NC_000002.12:249745:G:A Identity +NM_016848.6:c.1552G>A NP_058544.3:p.Asp518Asn NC_000009.12:89038096:C:T p.(Asp518Asn) NC_000009.12:89038096:C:T p.(Asp518Asn) NC_000009.12:89038096:C:T Identity +NM_020859.4:c.1934A>G NP_065910.3:p.Glu645Gly NC_000004.12:76740106:A:G p.(Glu645Gly) NC_000004.12:76740106:A:G p.(Glu645Gly) NC_000004.12:76740106:A:G Identity +NM_001080464.3:c.202C>T NP_001073933.2:p.Arg68Cys NC_000014.9:104093500:C:T p.(Arg68Cys) NC_000014.9:104093500:C:T p.(Arg68Cys) NC_000014.9:104093500:C:T Identity +NM_020859.4:c.897G>A NP_065910.3:p.Met299Ile NC_000004.12:76739069:G:A p.(Met299Ile) NC_000004.12:76739069:G:A p.(Met299Ile) NC_000004.12:76739069:G:A Identity +NM_015073.3:c.4274G>A NP_055888.1:p.Arg1425Gln NC_000019.10:38182583:G:A p.(Arg1425Gln) NC_000019.10:38182583:G:A p.(Arg1425Gln) NC_000019.10:38182583:G:A Identity +NM_015073.3:c.4273C>T NP_055888.1:p.Arg1425Trp NC_000019.10:38182582:C:T p.(Arg1425Trp) NC_000019.10:38182582:C:T p.(Arg1425Trp) NC_000019.10:38182582:C:T Identity +NM_033125.4:c.565A>G NP_149116.2:p.Ser189Gly NC_000006.12:110446958:T:C p.(Ser189Gly) NC_000006.12:110446958:T:C p.(Ser189Gly) NC_000006.12:110446958:T:C Identity +NM_016609.7:c.779G>C NP_057693.4:p.Gly260Ala NC_000014.9:23349351:C:G p.(Gly260Ala) NC_000014.9:23349351:C:G p.(Gly260Ala) NC_000014.9:23349351:C:G Identity +NM_001193288.3:c.815C>T NP_001180217.1:p.Ala272Val NC_000009.12:19786051:G:A p.(Ala272Val) NC_000009.12:19786051:G:A p.(Ala272Val) NC_000009.12:19786051:G:A Identity +NM_001143780.3:c.171G>T NP_001137252.1:p.Trp57Cys NC_000017.11:44322826:C:A p.(Trp57Cys) NC_000017.11:44322826:C:A p.(Trp57Cys) NC_000017.11:44322826:C:A Identity +NM_001293306.2:c.1976T>C NP_001280235.2:p.Phe659Ser NC_000003.12:38742420:A:G p.(Phe659Ser) NC_000003.12:38742420:A:G p.(Phe659Ser) NC_000003.12:38742420:A:G Identity +NM_001365536.1:c.2111A>T NP_001352465.1:p.Glu704Val NC_000002.12:166280588:T:A p.(Glu704Val) NC_000002.12:166280588:T:A p.(Glu704Val) NC_000002.12:166280588:T:A Identity +NM_015356.5:c.2998T>C NP_056171.3:p.Tyr1000His NC_000008.11:143804578:A:G p.(Tyr1000His) NC_000008.11:143804578:A:G p.(Tyr1000His) NC_000008.11:143804578:A:G Identity +NM_001412209.1:c.262G>A NP_001399138.1:p.Glu88Lys NC_000002.12:174401149:G:A p.(Glu88Lys) NC_000002.12:174401149:G:A p.(Glu88Lys) NC_000002.12:174401149:G:A Identity +NM_001294332.2:c.634G>T NP_001281261.1:p.Gly212Trp NC_000005.10:230882:G:T p.(Gly212Trp) NC_000005.10:230882:G:T p.(Gly212Trp) NC_000005.10:230882:G:T Identity +NM_001670.3:c.23C>T NP_001661.1:p.Ser8Leu NC_000022.11:19990771:G:A p.(Ser8Leu) NC_000022.11:19990771:G:A p.(Ser8Leu) NC_000022.11:19990771:G:A Identity +NM_001193476.2:c.2206T>C NP_001180405.1:p.Ser736Pro NC_000006.12:35955177:A:G p.(Ser736Pro) NC_000006.12:35955177:A:G p.(Ser736Pro) NC_000006.12:35955177:A:G Identity +NM_022902.5:c.991A>G NP_075053.2:p.Met331Val NC_000005.10:69116132:A:G p.(Met331Val) NC_000005.10:69116132:A:G p.(Met331Val) NC_000005.10:69116132:A:G Identity +NM_001286509.2:c.970C>T NP_001273438.1:p.Arg324Cys NC_000006.12:44255019:G:A p.(Arg324Cys) NC_000006.12:44255019:G:A p.(Arg324Cys) NC_000006.12:44255019:G:A Identity +NM_001080464.3:c.155G>A NP_001073933.2:p.Arg52Gln NC_000014.9:104092704:G:A p.(Arg52Gln) NC_000014.9:104092704:G:A p.(Arg52Gln) NC_000014.9:104092704:G:A Identity +NM_006747.4:c.646G>T NP_006738.3:p.Ala216Ser NC_000011.10:65641566:G:T p.(Ala216Ser) NC_000011.10:65641566:G:T p.(Ala216Ser) NC_000011.10:65641566:G:T Identity +NM_001042494.2:c.1378G>A NP_001035959.1:p.Gly460Ser NC_000015.10:34250666:C:T p.(Gly460Ser) NC_000015.10:34250666:C:T p.(Gly460Ser) NC_000015.10:34250666:C:T Identity +NM_001278201.2:c.664A>C NP_001265130.1:p.Ser222Arg NC_000011.10:57417754:T:G p.(Ser222Arg) NC_000011.10:57417754:T:G p.(Ser222Arg) NC_000011.10:57417754:T:G Identity +NM_001199692.3:c.580A>C NP_001186621.1:p.Thr194Pro NC_000007.14:151066517:A:C p.(Thr194Pro) NC_000007.14:151066517:A:C p.(Thr194Pro) NC_000007.14:151066517:A:C Identity +NM_001045556.3:c.806C>T NP_001039021.1:p.Ser269Leu NC_000008.11:133038548:G:A p.(Ser269Leu) NC_000008.11:133038548:G:A p.(Ser269Leu) NC_000008.11:133038548:G:A Identity +NM_001170798.1:c.365C>A NP_001164269.1:p.Thr122Asn NC_000012.12:16272779:G:T p.(Thr122Asn) NC_000012.12:16272779:G:T p.(Thr122Asn) NC_000012.12:16272779:G:T Identity +NM_213606.4:c.275C>T NP_998771.3:p.Ser92Phe NC_000010.11:89443784:G:A p.(Ser92Phe) NC_000010.11:89443784:G:A p.(Ser92Phe) NC_000010.11:89443784:G:A Identity +NM_001135691.3:c.103A>G NP_001129163.1:p.Asn35Asp NC_000008.11:20180861:T:C p.(Asn35Asp) NC_000008.11:20180861:T:C p.(Asn35Asp) NC_000008.11:20180861:T:C Identity +NM_001143838.3:c.1226G>A NP_001137310.1:p.Gly409Asp NC_000017.11:6693092:C:T p.(Gly409Asp) NC_000017.11:6693092:C:T p.(Gly409Asp) NC_000017.11:6693092:C:T Identity +NM_016582.3:c.1561G>C NP_057666.1:p.Gly521Arg NC_000011.10:60937899:C:G p.(Gly521Arg) NC_000011.10:60937899:C:G p.(Gly521Arg) NC_000011.10:60937899:C:G Identity +NM_016582.3:c.548G>C NP_057666.1:p.Gly183Ala NC_000011.10:60951003:C:G p.(Gly183Ala) NC_000011.10:60951003:C:G p.(Gly183Ala) NC_000011.10:60951003:C:G Identity +NM_001302643.2:c.1021G>A NP_001289572.2:p.Gly341Ser NC_000020.11:62965702:G:A p.(Gly341Ser) NC_000020.11:62965702:G:A p.(Gly341Ser) NC_000020.11:62965702:G:A Identity +NM_001320033.2:c.25G>C NP_001306962.1:p.Glu9Gln NC_000003.12:38306050:G:C p.(Glu9Gln) NC_000003.12:38306050:G:C p.(Glu9Gln) NC_000003.12:38306050:G:C Identity +NM_001136506.2:c.1325T>C NP_001129978.2:p.Ile442Thr NC_000011.10:63081626:A:G p.(Ile442Thr) NC_000011.10:63081626:A:G p.(Ile442Thr) NC_000011.10:63081626:A:G Identity +NM_001394058.1:c.523G>A NP_001380987.1:p.Val175Met NC_000011.10:63217718:C:T p.(Val175Met) NC_000011.10:63217718:C:T p.(Val175Met) NC_000011.10:63217718:C:T Identity +NM_000112.4:c.595A>G NP_000103.2:p.Asn199Asp NC_000005.10:149978246:A:G p.(Asn199Asp) NC_000005.10:149978246:A:G p.(Asn199Asp) NC_000005.10:149978246:A:G Identity +NM_001324029.3:c.1445G>A NP_001310958.1:p.Arg482Gln NC_000015.10:90227987:G:A p.(Arg482Gln) NC_000015.10:90227987:G:A p.(Arg482Gln) NC_000015.10:90227987:G:A Identity +NM_001271661.2:c.1538T>C NP_001258590.1:p.Leu513Ser NC_000002.12:74679898:T:C p.(Leu513Ser) NC_000002.12:74679898:T:C p.(Leu513Ser) NC_000002.12:74679898:T:C Identity +NM_001198999.2:c.2846A>G NP_001185928.1:p.Tyr949Cys NC_000015.10:47771594:A:G p.(Tyr949Cys) NC_000015.10:47771594:A:G p.(Tyr949Cys) NC_000015.10:47771594:A:G Identity +NM_001040661.3:c.361C>G NP_001035751.1:p.Leu121Val NC_000007.14:5291182:C:G p.(Leu121Val) NC_000007.14:5291182:C:G p.(Leu121Val) NC_000007.14:5291182:C:G Identity +NM_013309.6:c.620T>C NP_037441.2:p.Ile207Thr NC_000015.10:45490799:A:G p.(Ile207Thr) NC_000015.10:45490799:A:G p.(Ile207Thr) NC_000015.10:45490799:A:G Identity +NM_003057.3:c.757G>A NP_003048.1:p.Gly253Arg NC_000006.12:160134042:G:A p.(Gly253Arg) NC_000006.12:160134042:G:A p.(Gly253Arg) NC_000006.12:160134042:G:A Identity +NM_001039752.4:c.641T>C NP_001034841.3:p.Ile214Thr NC_000011.10:63297436:T:C p.(Ile214Thr) NC_000011.10:63297436:T:C p.(Ile214Thr) NC_000011.10:63297436:T:C Identity +NM_033125.4:c.1574C>A NP_149116.2:p.Pro525Gln NC_000006.12:110425032:G:T p.(Pro525Gln) NC_000006.12:110425032:G:T p.(Pro525Gln) NC_000006.12:110425032:G:T Identity +NM_003705.5:c.288G>T NP_003696.2:p.Gln96His NC_000002.12:171855870:C:A p.(Gln96His) NC_000002.12:171855870:C:A p.(Gln96His) NC_000002.12:171855870:C:A Identity +NM_001351527.2:c.4453C>G NP_001338456.1:p.Pro1485Ala NC_000009.12:132327144:G:C p.(Pro1485Ala) NC_000009.12:132327144:G:C p.(Pro1485Ala) NC_000009.12:132327144:G:C Identity +NM_001018039.1:c.2363C>T NP_001018049.1:p.Ser788Phe NC_000010.11:7171946:G:A p.(Ser788Phe) NC_000010.11:7171946:G:A p.(Ser788Phe) NC_000010.11:7171946:G:A Identity +NM_001012755.5:c.106G>A NP_001012773.2:p.Val36Ile NC_000023.11:104105151:C:T p.(Val36Ile) NC_000023.11:104105151:C:T p.(Val36Ile) NC_000023.11:104105151:C:T Identity +NM_052934.4:c.64G>A NP_443166.1:p.Asp22Asn NC_000001.11:205935756:C:T p.(Asp22Asn) NC_000001.11:205935756:C:T p.(Asp22Asn) NC_000001.11:205935756:C:T Identity +NM_001017372.3:c.1250A>T NP_001017372.1:p.Lys417Ile NC_000005.10:129023704:A:T p.(Lys417Ile) NC_000005.10:129023704:A:T p.(Lys417Ile) NC_000005.10:129023704:A:T Identity +NM_001004434.3:c.280C>G NP_001004434.1:p.Leu94Val NC_000001.11:26044435:G:C p.(Leu94Val) NC_000001.11:26044435:G:C p.(Leu94Val) NC_000001.11:26044435:G:C Identity +NM_001281457.2:c.356T>G NP_001268386.1:p.Phe119Cys NC_000020.11:46352189:A:C p.(Phe119Cys) NC_000020.11:46352189:A:C p.(Phe119Cys) NC_000020.11:46352189:A:C Identity +NM_020870.4:c.744A>G NP_065921.2:p.Ile248Met NC_000004.12:169155500:T:C p.(Ile248Met) NC_000004.12:169155500:T:C p.(Ile248Met) NC_000004.12:169155500:T:C Identity +NM_001177547.3:c.485C>T NP_001171018.1:p.Ser162Leu NC_000019.10:51530793:G:A p.(Ser162Leu) NC_000019.10:51530793:G:A p.(Ser162Leu) NC_000019.10:51530793:G:A Identity +NM_015073.3:c.1796G>A NP_055888.1:p.Arg599Gln NC_000019.10:38100091:G:A p.(Arg599Gln) NC_000019.10:38100091:G:A p.(Arg599Gln) NC_000019.10:38100091:G:A Identity +NM_016538.3:c.1102C>G NP_057622.1:p.Pro368Ala NC_000017.11:81912516:G:C p.(Pro368Ala) NC_000017.11:81912516:G:C p.(Pro368Ala) NC_000017.11:81912516:G:C Identity +NM_207371.4:c.484G>A NP_997254.3:p.Ala162Thr NC_000010.11:21517338:C:T p.(Ala162Thr) NC_000010.11:21517338:C:T p.(Ala162Thr) NC_000010.11:21517338:C:T Identity +NM_020125.3:c.137G>A NP_064510.1:p.Arg46His NC_000001.11:159829961:G:A p.(Arg46His) NC_000001.11:159829961:G:A p.(Arg46His) NC_000001.11:159829961:G:A Identity +NM_001142391.3:c.1009G>A NP_001135863.1:p.Gly337Ser NC_000023.11:154487844:C:T p.(Gly337Ser) NC_000023.11:154487844:C:T p.(Gly337Ser) NC_000023.11:154487844:C:T Identity +NM_152679.4:c.284C>A NP_689892.1:p.Pro95Gln NC_000004.12:48483844:C:A p.(Pro95Gln) NC_000004.12:48483844:C:A p.(Pro95Gln) NC_000004.12:48483844:C:A Identity +NM_001046.3:c.3182A>C NP_001037.1:p.Lys1061Thr NC_000005.10:128180963:A:C p.(Lys1061Thr) NC_000005.10:128180963:A:C p.(Lys1061Thr) NC_000005.10:128180963:A:C Identity +NM_001145962.1:c.2729T>C NP_001139434.1:p.Val910Ala NC_000016.10:67945966:A:G p.(Val910Ala) NC_000016.10:67945966:A:G p.(Val910Ala) NC_000016.10:67945966:A:G Identity +NM_001198810.2:c.1291G>T NP_001185739.1:p.Val431Leu NC_000011.10:57489294:C:A p.(Val431Leu) NC_000011.10:57489294:C:A p.(Val431Leu) NC_000011.10:57489294:C:A Identity +NM_001080397.3:c.970G>A NP_001073866.3:p.Asp324Asn NC_000001.11:8330462:G:A p.(Asp324Asn) NC_000001.11:8330462:G:A p.(Asp324Asn) NC_000001.11:8330462:G:A Identity +NM_018242.3:c.62G>A NP_060712.2:p.Arg21His NC_000017.11:19534000:G:A p.(Arg21His) NC_000017.11:19534000:G:A p.(Arg21His) NC_000017.11:19534000:G:A Identity +NM_001039960.3:c.559A>G NP_001035049.1:p.Ile187Val NC_000012.12:51453683:A:G p.(Ile187Val) NC_000012.12:51453683:A:G p.(Ile187Val) NC_000012.12:51453683:A:G Identity +NM_001136506.2:c.1640T>A NP_001129978.2:p.Met547Lys NC_000011.10:63079958:A:T p.(Met547Lys) NC_000011.10:63079958:A:T p.(Met547Lys) NC_000011.10:63079958:A:T Identity +NM_207348.3:c.304C>G NP_997231.1:p.Gln102Glu NC_000001.11:15736788:C:G p.(Gln102Glu) NC_000001.11:15736788:C:G p.(Gln102Glu) NC_000001.11:15736788:C:G Identity +NM_017877.4:c.472G>T NP_060347.2:p.Val158Leu NC_000002.12:26775612:G:T p.(Val158Leu) NC_000002.12:26775612:G:T p.(Val158Leu) NC_000002.12:26775612:G:T Identity +NM_001012662.3:c.1626C>A NP_001012680.1:p.Phe542Leu NC_000011.10:62888422:C:A p.(Phe542Leu) NC_000011.10:62888422:C:A p.(Phe542Leu) NC_000011.10:62888422:C:A Identity +NM_001130058.2:c.58C>T NP_001123530.1:p.Pro20Ser NC_000001.11:75339624:G:A p.(Pro20Ser) NC_000001.11:75339624:G:A p.(Pro20Ser) NC_000001.11:75339624:G:A Identity +NM_001386136.1:c.2513C>T NP_001373065.1:p.Pro838Leu NC_000002.12:74227864:G:A p.(Pro838Leu) NC_000002.12:74227864:G:A p.(Pro838Leu) NC_000002.12:74227864:G:A Identity +NM_001159629.2:c.1292C>T NP_001153101.1:p.Thr431Ile NC_000015.10:50227171:C:T p.(Thr431Ile) NC_000015.10:50227171:C:T p.(Thr431Ile) NC_000015.10:50227171:C:T Identity +NM_001286509.2:c.391C>T NP_001273438.1:p.Arg131Cys NC_000006.12:44255598:G:A p.(Arg131Cys) NC_000006.12:44255598:G:A p.(Arg131Cys) NC_000006.12:44255598:G:A Identity +NM_001134658.3:c.646G>A NP_001128130.1:p.Glu216Lys NC_000010.11:93901037:G:A p.(Glu216Lys) NC_000010.11:93901037:G:A p.(Glu216Lys) NC_000010.11:93901037:G:A Identity +NM_001037984.3:c.1114A>C NP_001033073.1:p.Asn372His NC_000017.11:81270934:T:G p.(Asn372His) NC_000017.11:81270934:T:G p.(Asn372His) NC_000017.11:81270934:T:G Identity +NM_001242338.3:c.561A>T NP_001229267.2:p.Gln187His NC_000002.12:23887842:T:A p.(Gln187His) NC_000002.12:23887842:T:A p.(Gln187His) NC_000002.12:23887842:T:A Identity +NM_001252148.2:c.386A>G NP_001239077.1:p.His129Arg NC_000014.9:69442248:A:G p.(His129Arg) NC_000014.9:69442248:A:G p.(His129Arg) NC_000014.9:69442248:A:G Identity +NM_001286730.2:c.1025T>C NP_001273659.1:p.Phe342Ser NC_000009.12:105362944:T:C p.(Phe342Ser) NC_000009.12:105362944:T:C p.(Phe342Ser) NC_000009.12:105362944:T:C Identity +NM_001199692.3:c.1072G>A NP_001186621.1:p.Glu358Lys NC_000007.14:151067978:G:A p.(Glu358Lys) NC_000007.14:151067978:G:A p.(Glu358Lys) NC_000007.14:151067978:G:A Identity +NM_001386136.1:c.437G>A NP_001373065.1:p.Arg146Gln NC_000002.12:74262162:C:T p.(Arg146Gln) NC_000002.12:74262162:C:T p.(Arg146Gln) NC_000002.12:74262162:C:T Identity +NM_152672.6:c.679G>A NP_689885.4:p.Val227Met NC_000003.12:196229959:G:A p.(Val227Met) NC_000003.12:196229959:G:A p.(Val227Met) NC_000003.12:196229959:G:A Identity +NM_001385683.1:c.1423G>A NP_001372612.1:p.Ala475Thr NC_000003.12:45762985:C:T p.(Ala475Thr) NC_000003.12:45762985:C:T p.(Ala475Thr) NC_000003.12:45762985:C:T Identity +NM_001318369.2:c.1074C>A NP_001305298.1:p.Asp358Glu NC_000011.10:20637209:C:A p.(Asp358Glu) NC_000011.10:20637209:C:A p.(Asp358Glu) NC_000011.10:20637209:C:A Identity +NM_001076785.3:c.1130C>T NP_001070253.1:p.Ala377Val NC_000016.10:68296373:C:T p.(Ala377Val) NC_000016.10:68296373:C:T p.(Ala377Val) NC_000016.10:68296373:C:T Identity +NM_001112800.4:c.2068G>A NP_001106271.1:p.Glu690Lys NC_000002.12:40164939:C:T p.(Glu690Lys) NC_000002.12:40164939:C:T p.(Glu690Lys) NC_000002.12:40164939:C:T Identity +NM_145913.5:c.415A>G NP_666018.3:p.Thr139Ala NC_000012.12:101204501:T:C p.(Thr139Ala) NC_000012.12:101204501:T:C p.(Thr139Ala) NC_000012.12:101204501:T:C Identity +NM_001112800.4:c.1748G>C NP_001106271.1:p.Gly583Ala NC_000002.12:40428532:C:G p.(Gly583Ala) NC_000002.12:40428532:C:G p.(Gly583Ala) NC_000002.12:40428532:C:G Identity +NM_001385683.1:c.250C>G NP_001372612.1:p.Leu84Val NC_000003.12:45782094:G:C p.(Leu84Val) NC_000003.12:45782094:G:C p.(Leu84Val) NC_000003.12:45782094:G:C Identity +NM_001284351.3:c.41T>G NP_001271280.1:p.Leu14Arg NC_000005.10:524281:A:C p.(Leu14Arg) NC_000005.10:524281:A:C p.(Leu14Arg) NC_000005.10:524281:A:C Identity +NM_001011552.4:c.497C>A NP_001011552.2:p.Ala166Asp NC_000002.12:102479078:C:A p.(Ala166Asp) NC_000002.12:102479078:C:A p.(Ala166Asp) NC_000002.12:102479078:C:A Identity +NM_001011552.4:c.1892G>A NP_001011552.2:p.Arg631His NC_000002.12:102525096:G:A p.(Arg631His) NC_000002.12:102525096:G:A p.(Arg631His) NC_000002.12:102525096:G:A Identity +NM_001104587.2:c.2020C>T NP_001098057.1:p.Arg674Cys NC_000017.11:35353041:G:A p.(Arg674Cys) NC_000017.11:35353041:G:A p.(Arg674Cys) NC_000017.11:35353041:G:A Identity +NM_001136123.2:c.1090C>A NP_001129595.1:p.Arg364Ser NC_000010.11:100924090:C:A p.(Arg364Ser) NC_000010.11:100924090:C:A p.(Arg364Ser) NC_000010.11:100924090:C:A Identity +NM_173653.4:c.793G>A NP_775924.1:p.Ala265Thr NC_000003.12:143578685:C:T p.(Ala265Thr) NC_000003.12:143578685:C:T p.(Ala265Thr) NC_000003.12:143578685:C:T Identity +NM_006446.5:c.841C>G NP_006437.3:p.Gln281Glu NC_000012.12:21197058:C:G p.(Gln281Glu) NC_000012.12:21197058:C:G p.(Gln281Glu) NC_000012.12:21197058:C:G Identity +NM_003048.6:c.2341T>G NP_003039.2:p.Leu781Val NC_000002.12:102708390:T:G p.(Leu781Val) NC_000002.12:102708390:T:G p.(Leu781Val) NC_000002.12:102708390:T:G Identity +NM_180991.5:c.2160A>G NP_851322.3:p.Ile720Met NC_000005.10:102236872:T:C p.(Ile720Met) NC_000005.10:102236872:T:C p.(Ile720Met) NC_000005.10:102236872:T:C Identity +NM_001675.4:c.514T>C NP_001666.2:p.Ser172Pro NC_000022.11:39522059:T:C p.(Ser172Pro) NC_000022.11:39522059:T:C p.(Ser172Pro) NC_000022.11:39522059:T:C Identity +NM_001129820.2:c.22A>G NP_001123292.1:p.Thr8Ala NC_000017.11:35558040:T:C p.(Thr8Ala) NC_000017.11:35558040:T:C p.(Thr8Ala) NC_000017.11:35558040:T:C Identity +NM_001271946.2:c.1469A>G NP_001258875.2:p.Asp490Gly NC_000005.10:168762679:T:C p.(Asp490Gly) NC_000005.10:168762679:T:C p.(Asp490Gly) NC_000005.10:168762679:T:C Identity +NM_001013843.3:c.646A>T NP_001013865.1:p.Thr216Ser NC_000015.10:58899826:T:A p.(Thr216Ser) NC_000015.10:58899826:T:A p.(Thr216Ser) NC_000015.10:58899826:T:A Identity +NM_001384609.1:c.2413C>T NP_001371538.1:p.Pro805Ser NC_000013.11:87677800:C:T p.(Pro805Ser) NC_000013.11:87677800:C:T p.(Pro805Ser) NC_000013.11:87677800:C:T Identity +NM_001364517.2:c.1031T>C NP_001351446.1:p.Leu344Ser NC_000005.10:160407614:A:G p.(Leu344Ser) NC_000005.10:160407614:A:G p.(Leu344Ser) NC_000005.10:160407614:A:G Identity +NM_001256160.3:c.889A>T NP_001243089.1:p.Met297Leu NC_000016.10:10433577:A:T p.(Met297Leu) NC_000016.10:10433577:A:T p.(Met297Leu) NC_000016.10:10433577:A:T Identity +NM_001277783.2:c.17A>C NP_001264712.1:p.Gln6Pro NC_000005.10:115841535:T:G p.(Gln6Pro) NC_000005.10:115841535:T:G p.(Gln6Pro) NC_000005.10:115841535:T:G Identity +NM_003061.3:c.1813C>T NP_003052.2:p.Arg605Trp NC_000010.11:97046693:G:A p.(Arg605Trp) NC_000010.11:97046693:G:A p.(Arg605Trp) NC_000010.11:97046693:G:A Identity +NM_001271946.2:c.509G>A NP_001258875.2:p.Ser170Asn NC_000005.10:168844631:C:T p.(Ser170Asn) NC_000005.10:168844631:C:T p.(Ser170Asn) NC_000005.10:168844631:C:T Identity +NM_001014999.3:c.232G>A NP_001014999.1:p.Ala78Thr NC_000016.10:30194782:G:A p.(Ala78Thr) NC_000016.10:30194782:G:A p.(Ala78Thr) NC_000016.10:30194782:G:A Identity +NM_003079.5:c.439dup NP_003070.3:p.Ser147fs NC_000017.11:40636032:TTTTT:TTTTTT p.(Ser147LysfsTer31) NC_000017.11:40636032:TTTTT:TTTTTT p.(Ser147LysfsTer31) ERR:SPDI Analogous +NM_001367971.1:c.2788A>G NP_001354900.1:p.Thr930Ala NC_000011.10:64907274:T:C p.(Thr930Ala) NC_000011.10:64907274:T:C p.(Thr930Ala) NC_000011.10:64907274:T:C Identity +NM_001130420.3:c.791A>C NP_001123892.1:p.Asn264Thr NC_000012.12:56181752:T:G p.(Asn264Thr) NC_000012.12:56181752:T:G p.(Asn264Thr) NC_000012.12:56181752:T:G Identity +NM_001207017.1:c.1481C>T NP_001193946.1:p.Pro494Leu NC_000022.11:31091341:C:T p.(Pro494Leu) NC_000022.11:31091341:C:T p.(Pro494Leu) NC_000022.11:31091341:C:T Identity +NM_001167740.2:c.855A>C NP_001161212.1:p.Glu285Asp NC_000001.11:245863844:T:G p.(Glu285Asp) NC_000001.11:245863844:T:G p.(Glu285Asp) NC_000001.11:245863844:T:G Identity +NM_001323930.2:c.283G>A NP_001310859.1:p.Glu95Lys NC_000001.11:227748018:G:A p.(Glu95Lys) NC_000001.11:227748018:G:A p.(Glu95Lys) NC_000001.11:227748018:G:A Identity +NM_032852.4:c.578A>G NP_116241.2:p.Asn193Ser NC_000001.11:62819187:A:G p.(Asn193Ser) NC_000001.11:62819187:A:G p.(Asn193Ser) NC_000001.11:62819187:A:G Identity +NM_013321.4:c.325C>T NP_037453.1:p.Arg109Trp NC_000007.14:2275204:G:A p.(Arg109Trp) NC_000007.14:2275204:G:A p.(Arg109Trp) NC_000007.14:2275204:G:A Identity +NM_013321.4:c.997C>T NP_037453.1:p.Arg333Trp NC_000007.14:2257501:G:A p.(Arg333Trp) NC_000007.14:2257501:G:A p.(Arg333Trp) NC_000007.14:2257501:G:A Identity +NM_003745.2:c.482T>C NP_003736.1:p.Met161Thr NC_000016.10:11254996:A:G p.(Met161Thr) NC_000016.10:11254996:A:G p.(Met161Thr) NC_000016.10:11254996:A:G Identity +NM_001101677.2:c.1078G>A NP_001095147.2:p.Glu360Lys NC_000009.12:135693682:C:T p.(Glu360Lys) NC_000009.12:135693682:C:T p.(Glu360Lys) NC_000009.12:135693682:C:T Identity +NM_001128844.3:c.3317C>A NP_001122316.1:p.Thr1106Asn NC_000019.10:11027884:C:A p.(Thr1106Asn) NC_000019.10:11027884:C:A p.(Thr1106Asn) NC_000019.10:11027884:C:A Identity +NM_003601.4:c.37C>T NP_003592.3:p.Pro13Ser NC_000004.12:143513960:C:T p.(Pro13Ser) NC_000004.12:143513960:C:T p.(Pro13Ser) NC_000004.12:143513960:C:T Identity +NM_033388.2:c.37C>T NP_203746.1:p.Arg13Cys NC_000011.10:72814481:C:T p.(Arg13Cys) NC_000011.10:72814481:C:T p.(Arg13Cys) NC_000011.10:72814481:C:T Identity +NM_001281463.1:c.952A>T NP_001268392.1:p.Met318Leu NC_000023.11:53412089:T:A p.(Met318Leu) NC_000023.11:53412089:T:A p.(Met318Leu) NC_000023.11:53412089:T:A Identity +NM_018968.4:c.112G>A NP_061841.2:p.Glu38Lys NC_000002.12:1083556:G:A p.(Glu38Lys) NC_000002.12:1083556:G:A p.(Glu38Lys) NC_000002.12:1083556:G:A Identity +NM_018013.4:c.2261C>G NP_060483.3:p.Pro754Arg NC_000006.12:107635104:C:G p.(Pro754Arg) NC_000006.12:107635104:C:G p.(Pro754Arg) NC_000006.12:107635104:C:G Identity +NM_018968.4:c.808C>T NP_061841.2:p.Arg270Trp NC_000002.12:1237975:C:T p.(Arg270Trp) NC_000002.12:1237975:C:T p.(Arg270Trp) NC_000002.12:1237975:C:T Identity +NM_001102575.2:c.1832C>T NP_001096045.1:p.Thr611Ile NC_000005.10:54543388:C:T p.(Thr611Ile) NC_000005.10:54543388:C:T p.(Thr611Ile) NC_000005.10:54543388:C:T Identity +NM_001282454.2:c.382A>G NP_001269383.1:p.Met128Val NC_000020.11:17950308:T:C p.(Met128Val) NC_000020.11:17950308:T:C p.(Met128Val) NC_000020.11:17950308:T:C Identity +NM_001145674.3:c.1110C>A NP_001139146.1:p.Asn370Lys NC_000004.12:185624018:G:T p.(Asn370Lys) NC_000004.12:185624018:G:T p.(Asn370Lys) NC_000004.12:185624018:G:T Identity +NM_003104.6:c.47G>C NP_003095.2:p.Gly16Ala NC_000015.10:45023329:G:C p.(Gly16Ala) NC_000015.10:45023329:G:C p.(Gly16Ala) NC_000015.10:45023329:G:C Identity +NM_003108.4:c.812A>G NP_003099.1:p.Asn271Ser NC_000002.12:5693532:A:G p.(Asn271Ser) NC_000002.12:5693532:A:G p.(Asn271Ser) NC_000002.12:5693532:A:G Identity +NM_003108.4:c.1010G>T NP_003099.1:p.Arg337Leu NC_000002.12:5693730:G:T p.(Arg337Leu) NC_000002.12:5693730:G:T p.(Arg337Leu) NC_000002.12:5693730:G:T Identity +NM_014978.3:c.390G>T NP_055793.1:p.Arg130Ser NC_000010.11:104641716:G:T p.(Arg130Ser) NC_000010.11:104641716:G:T p.(Arg130Ser) NC_000010.11:104641716:G:T Identity +NM_001130111.2:c.869A>G NP_001123583.1:p.Tyr290Cys NC_000019.10:1877263:T:C p.(Tyr290Cys) NC_000019.10:1877263:T:C p.(Tyr290Cys) NC_000019.10:1877263:T:C Identity +NM_001394201.1:c.2794C>T NP_001381130.1:p.Pro932Ser NC_000009.12:136379032:G:A p.(Pro932Ser) NC_000009.12:136379032:G:A p.(Pro932Ser) NC_000009.12:136379032:G:A Identity +NM_001145670.2:c.1865G>T NP_001139142.1:p.Trp622Leu NC_000004.12:185589686:C:A p.(Trp622Leu) NC_000004.12:185589686:C:A p.(Trp622Leu) NC_000004.12:185589686:C:A Identity +NM_001145250.2:c.880A>G NP_001138722.1:p.Ser294Gly NC_000002.12:174336964:A:G p.(Ser294Gly) NC_000002.12:174336964:A:G p.(Ser294Gly) NC_000002.12:174336964:A:G Identity +NM_001145250.2:c.751A>G NP_001138722.1:p.Ser251Gly NC_000002.12:174336835:A:G p.(Ser251Gly) NC_000002.12:174336835:A:G p.(Ser251Gly) NC_000002.12:174336835:A:G Identity +NM_024532.5:c.1310G>A NP_078808.3:p.Arg437His NC_000002.12:213930054:G:A p.(Arg437His) NC_000002.12:213930054:G:A p.(Arg437His) NC_000002.12:213930054:G:A Identity +NM_001001670.3:c.3529A>G NP_001001670.1:p.Ser1177Gly NC_000009.12:81993998:A:G p.(Ser1177Gly) NC_000009.12:81993998:A:G p.(Ser1177Gly) NC_000009.12:81993998:A:G Identity +NM_144644.4:c.523C>T NP_653245.2:p.Arg175Cys NC_000004.12:176192791:G:A p.(Arg175Cys) NC_000004.12:176192791:G:A p.(Arg175Cys) NC_000004.12:176192791:G:A Identity +NM_024867.4:c.5081G>A NP_079143.3:p.Arg1694Lys NC_000005.10:35806776:G:A p.(Arg1694Lys) NC_000005.10:35806776:G:A p.(Arg1694Lys) NC_000005.10:35806776:G:A Identity +NM_013306.5:c.472C>G NP_037438.2:p.Gln158Glu NC_000011.10:65035157:C:G p.(Gln158Glu) NC_000011.10:65035157:C:G p.(Gln158Glu) NC_000011.10:65035157:C:G Identity +NM_014035.4:c.416A>T NP_054754.1:p.Asp139Val NC_000005.10:123001977:A:T p.(Asp139Val) NC_000005.10:123001977:A:T p.(Asp139Val) NC_000005.10:123001977:A:T Identity +NM_003578.4:c.1072T>C NP_003569.1:p.Phe358Leu NC_000012.12:53120817:T:C p.(Phe358Leu) NC_000012.12:53120817:T:C p.(Phe358Leu) NC_000012.12:53120817:T:C Identity +NM_003745.2:c.65G>A NP_003736.1:p.Arg22Gln NC_000016.10:11255413:C:T p.(Arg22Gln) NC_000016.10:11255413:C:T p.(Arg22Gln) NC_000016.10:11255413:C:T Identity +NM_030960.3:c.218G>A NP_112222.1:p.Arg73Lys NC_000006.12:88053954:G:A p.(Arg73Lys) NC_000006.12:88053954:G:A p.(Arg73Lys) NC_000006.12:88053954:G:A Identity +NM_001083124.1:c.2072G>A NP_001076593.1:p.Arg691Gln NC_000009.12:66988425:C:T p.(Arg691Gln) NC_000009.12:66988425:C:T p.(Arg691Gln) NC_000009.12:66988425:C:T Identity +NM_001083124.1:c.3157G>A NP_001076593.1:p.Val1053Met NC_000009.12:66987340:C:T p.(Val1053Met) NC_000009.12:66987340:C:T p.(Val1053Met) NC_000009.12:66987340:C:T Identity +NM_178828.5:c.2225G>A NP_849150.3:p.Arg742Lys NC_000009.12:87886711:G:A p.(Arg742Lys) NC_000009.12:87886711:G:A p.(Arg742Lys) NC_000009.12:87886711:G:A Identity +NM_001372081.1:c.206G>T NP_001359010.1:p.Ser69Ile NC_000006.12:44352791:G:T p.(Ser69Ile) NC_000006.12:44352791:G:T p.(Ser69Ile) NC_000006.12:44352791:G:T Identity +NM_015001.3:c.10004C>G NP_055816.2:p.Ser3335Cys NC_000001.11:15936243:C:G p.(Ser3335Cys) NC_000001.11:15936243:C:G p.(Ser3335Cys) NC_000001.11:15936243:C:G Identity +NM_001142644.2:c.2071G>A NP_001136116.1:p.Asp691Asn NC_000002.12:228018782:C:T p.(Asp691Asn) NC_000002.12:228018782:C:T p.(Asp691Asn) NC_000002.12:228018782:C:T Identity +NM_001033553.3:c.3132G>T NP_001028725.1:p.Met1044Ile NC_000017.11:20313989:G:T p.(Met1044Ile) NC_000017.11:20313989:G:T p.(Met1044Ile) NC_000017.11:20313989:G:T Identity +NM_001146316.2:c.337G>C NP_001139788.1:p.Ala113Pro NC_000012.12:6872564:C:G p.(Ala113Pro) NC_000012.12:6872564:C:G p.(Ala113Pro) NC_000012.12:6872564:C:G Identity +NM_003128.3:c.4676G>T NP_003119.2:p.Ser1559Ile NC_000002.12:54646284:G:T p.(Ser1559Ile) NC_000002.12:54646284:G:T p.(Ser1559Ile) NC_000002.12:54646284:G:T Identity +NM_004863.4:c.157G>A NP_004854.1:p.Gly53Arg NC_000014.9:77597355:C:T p.(Gly53Arg) NC_000014.9:77597355:C:T p.(Gly53Arg) NC_000014.9:77597355:C:T Identity +NM_206996.4:c.4390G>A NP_996879.1:p.Val1464Ile NC_000001.11:118012269:C:T p.(Val1464Ile) NC_000001.11:118012269:C:T p.(Val1464Ile) NC_000001.11:118012269:C:T Identity +NM_001142644.2:c.385G>T NP_001136116.1:p.Val129Phe NC_000002.12:228025449:C:A p.(Val129Phe) NC_000002.12:228025449:C:A p.(Val129Phe) NC_000002.12:228025449:C:A Identity +NM_001124758.3:c.287G>C NP_001118230.1:p.Ser96Thr NC_000017.11:4499333:G:C p.(Ser96Thr) NC_000017.11:4499333:G:C p.(Ser96Thr) NC_000017.11:4499333:G:C Identity +NM_001124758.3:c.1553T>C NP_001118230.1:p.Phe518Ser NC_000017.11:4536371:T:C p.(Phe518Ser) NC_000017.11:4536371:T:C p.(Phe518Ser) NC_000017.11:4536371:T:C Identity +NM_001258038.2:c.154G>C NP_001244967.1:p.Glu52Gln NC_000004.12:123401744:G:C p.(Glu52Gln) NC_000004.12:123401744:G:C p.(Glu52Gln) NC_000004.12:123401744:G:C Identity +NM_001349945.2:c.1060T>C NP_001336874.1:p.Phe354Leu NC_000020.11:13117632:T:C p.(Phe354Leu) NC_000020.11:13117632:T:C p.(Phe354Leu) NC_000020.11:13117632:T:C Identity +NM_006662.3:c.5179A>G NP_006653.2:p.Thr1727Ala NC_000016.10:30724602:A:G p.(Thr1727Ala) NC_000016.10:30724602:A:G p.(Thr1727Ala) NC_000016.10:30724602:A:G Identity +NM_006662.3:c.4618A>C NP_006653.2:p.Thr1540Pro NC_000016.10:30724041:A:C p.(Thr1540Pro) NC_000016.10:30724041:A:C p.(Thr1540Pro) NC_000016.10:30724041:A:C Identity +NM_001005291.3:c.586C>T NP_001005291.1:p.Pro196Ser NC_000017.11:17820116:G:A p.(Pro196Ser) NC_000017.11:17820116:G:A p.(Pro196Ser) NC_000017.11:17820116:G:A Identity +NM_001392009.1:c.188A>G NP_001378938.1:p.Asn63Ser NC_000014.9:22603536:A:G p.(Asn63Ser) NC_000014.9:22603536:A:G p.(Asn63Ser) NC_000014.9:22603536:A:G Identity +NM_003731.3:c.272C>G NP_003722.2:p.Thr91Ser NC_000009.12:137189825:C:G p.(Thr91Ser) NC_000009.12:137189825:C:G p.(Thr91Ser) NC_000009.12:137189825:C:G Identity +NM_001278589.2:c.140A>G NP_001265518.1:p.Gln47Arg NC_000022.11:40850850:T:C p.(Gln47Arg) NC_000022.11:40850850:T:C p.(Gln47Arg) NC_000022.11:40850850:T:C Identity +NM_001142351.2:c.689C>T NP_001135823.1:p.Thr230Ile NC_000002.12:106843288:G:A p.(Thr230Ile) NC_000002.12:106843288:G:A p.(Thr230Ile) NC_000002.12:106843288:G:A Identity +NM_001303448.2:c.1070G>C NP_001290377.1:p.Gly357Ala NC_000001.11:24654883:G:C p.(Gly357Ala) NC_000001.11:24654883:G:C p.(Gly357Ala) NC_000001.11:24654883:G:C Identity +NM_016333.4:c.5545C>T NP_057417.3:p.Arg1849Trp NC_000016.10:2766072:C:T p.(Arg1849Trp) NC_000016.10:2766072:C:T p.(Arg1849Trp) NC_000016.10:2766072:C:T Identity +NM_001053.4:c.587T>C NP_001044.1:p.Leu196Pro NC_000016.10:1079454:T:C p.(Leu196Pro) NC_000016.10:1079454:T:C p.(Leu196Pro) NC_000016.10:1079454:T:C Identity +NM_001256748.3:c.568G>A NP_001243677.1:p.Gly190Ser NC_000003.12:8629683:C:T p.(Gly190Ser) NC_000003.12:8629683:C:T p.(Gly190Ser) NC_000003.12:8629683:C:T Identity +NM_001352826.2:c.81G>C NP_001339755.1:p.Glu27Asp NC_000008.11:52212083:C:G p.(Glu27Asp) NC_000008.11:52212083:C:G p.(Glu27Asp) NC_000008.11:52212083:C:G Identity +NM_001324282.2:c.437A>T NP_001311211.1:p.Lys146Ile NC_000010.11:17693309:A:T p.(Lys146Ile) NC_000010.11:17693309:A:T p.(Lys146Ile) NC_000010.11:17693309:A:T Identity +NM_020759.3:c.7520A>G NP_065810.2:p.Lys2507Arg NC_000015.10:42689097:A:G p.(Lys2507Arg) NC_000015.10:42689097:A:G p.(Lys2507Arg) NC_000015.10:42689097:A:G Identity +NM_080608.4:c.397C>T NP_542175.1:p.Arg133Trp NC_000020.11:45886803:G:A p.(Arg133Trp) NC_000020.11:45886803:G:A p.(Arg133Trp) NC_000020.11:45886803:G:A Identity +NM_021978.4:c.1819C>T NP_068813.1:p.Arg607Trp NC_000011.10:130199961:C:T p.(Arg607Trp) NC_000011.10:130199961:C:T p.(Arg607Trp) NC_000011.10:130199961:C:T Identity +NM_006456.3:c.241C>T NP_006447.2:p.Arg81Cys NC_000017.11:76574484:G:A p.(Arg81Cys) NC_000017.11:76574484:G:A p.(Arg81Cys) NC_000017.11:76574484:G:A Identity +NM_001169117.2:c.1367C>T NP_001162588.1:p.Ser456Phe NC_000004.12:27008879:C:T p.(Ser456Phe) NC_000004.12:27008879:C:T p.(Ser456Phe) NC_000004.12:27008879:C:T Identity +NM_001352385.2:c.218A>G NP_001339314.1:p.Glu73Gly NC_000020.11:44978543:A:G p.(Glu73Gly) NC_000020.11:44978543:A:G p.(Glu73Gly) NC_000020.11:44978543:A:G Identity +NM_001282546.2:c.1067T>C NP_001269475.1:p.Ile356Thr NC_000001.11:36343400:A:G p.(Ile356Thr) NC_000001.11:36343400:A:G p.(Ile356Thr) NC_000001.11:36343400:A:G Identity +NM_001204158.3:c.205C>T NP_001191087.1:p.Arg69Trp NC_000019.10:48626232:C:T p.(Arg69Trp) NC_000019.10:48626232:C:T p.(Arg69Trp) NC_000019.10:48626232:C:T Identity +NM_001127698.2:c.2003G>A NP_001121170.1:p.Cys668Tyr NC_000005.10:148114476:G:A p.(Cys668Tyr) NC_000005.10:148114476:G:A p.(Cys668Tyr) NC_000005.10:148114476:G:A Identity +NM_001030288.4:c.1022C>A NP_001025459.1:p.Thr341Lys NC_000016.10:29664749:C:A p.(Thr341Lys) NC_000016.10:29664749:C:A p.(Thr341Lys) NC_000016.10:29664749:C:A Identity +NM_001256672.2:c.464C>T NP_001243601.1:p.Ser155Leu NC_000015.10:73988728:G:A p.(Ser155Leu) NC_000015.10:73988728:G:A p.(Ser155Leu) NC_000015.10:73988728:G:A Identity +NM_001199012.2:c.254C>T NP_001185941.1:p.Ser85Leu NC_000001.11:24383938:G:A p.(Ser85Leu) NC_000001.11:24383938:G:A p.(Ser85Leu) NC_000001.11:24383938:G:A Identity +NM_001270768.2:c.125C>T NP_001257697.1:p.Ala42Val NC_000001.11:110039255:C:T p.(Ala42Val) NC_000001.11:110039255:C:T p.(Ala42Val) NC_000001.11:110039255:C:T Identity +NM_178862.3:c.347C>G NP_849193.1:p.Ser116Cys NC_000003.12:31576427:C:G p.(Ser116Cys) NC_000003.12:31576427:C:G p.(Ser116Cys) NC_000003.12:31576427:C:G Identity +NM_001326578.2:c.470A>G NP_001313507.1:p.Asp157Gly NC_000006.12:132470017:T:C p.(Asp157Gly) NC_000006.12:132470017:T:C p.(Asp157Gly) NC_000006.12:132470017:T:C Identity +NM_014465.4:c.278G>A NP_055280.2:p.Gly93Asp NC_000004.12:69749817:C:T p.(Gly93Asp) NC_000004.12:69749817:C:T p.(Gly93Asp) NC_000004.12:69749817:C:T Identity +NM_001278928.2:c.499A>G NP_001265857.1:p.Met167Val NC_000009.12:133360110:A:G p.(Met167Val) NC_000009.12:133360110:A:G p.(Met167Val) NC_000009.12:133360110:A:G Identity +NM_001144033.2:c.526C>T NP_001137505.1:p.Arg176Trp NC_000013.11:38968497:G:A p.(Arg176Trp) NC_000013.11:38968497:G:A p.(Arg176Trp) NC_000013.11:38968497:G:A Identity +NM_001142617.2:c.151C>G NP_001136089.1:p.Leu51Val NC_000015.10:74197780:G:C p.(Leu51Val) NC_000015.10:74197780:G:C p.(Leu51Val) NC_000015.10:74197780:G:C Identity +NM_001080426.3:c.3448A>G NP_001073895.1:p.Thr1150Ala NC_000001.11:167128578:A:G p.(Thr1150Ala) NC_000001.11:167128578:A:G p.(Thr1150Ala) NC_000001.11:167128578:A:G Identity +NM_004605.2:c.139G>C NP_004596.2:p.Asp47His NC_000019.10:48576052:G:C p.(Asp47His) NC_000019.10:48576052:G:C p.(Asp47His) NC_000019.10:48576052:G:C Identity +NM_007192.4:c.1669A>G NP_009123.1:p.Ile557Val NC_000014.9:21362320:T:C p.(Ile557Val) NC_000014.9:21362320:T:C p.(Ile557Val) NC_000014.9:21362320:T:C Identity +NM_001278928.2:c.89T>A NP_001265857.1:p.Ile30Asn NC_000009.12:133356923:T:A p.(Ile30Asn) NC_000009.12:133356923:T:A p.(Ile30Asn) NC_000009.12:133356923:T:A Identity +NM_001323599.2:c.1606A>G NP_001310528.1:p.Met536Val NC_000010.11:29524521:T:C p.(Met536Val) NC_000010.11:29524521:T:C p.(Met536Val) NC_000010.11:29524521:T:C Identity +NM_001282541.2:c.1495G>A NP_001269470.1:p.Val499Ile NC_000001.11:114911547:G:A p.(Val499Ile) NC_000001.11:114911547:G:A p.(Val499Ile) NC_000001.11:114911547:G:A Identity +NM_001055.4:c.437C>G NP_001046.2:p.Ala146Gly NC_000016.10:28607012:G:C p.(Ala146Gly) NC_000016.10:28607012:G:C p.(Ala146Gly) NC_000016.10:28607012:G:C Identity +NM_001320755.2:c.1525G>C NP_001307684.1:p.Glu509Gln NC_000017.11:28681907:G:C p.(Glu509Gln) NC_000017.11:28681907:G:C p.(Glu509Gln) NC_000017.11:28681907:G:C Identity +NM_001278942.2:c.386G>A NP_001265871.1:p.Arg129Gln NC_000009.12:133333724:C:T p.(Arg129Gln) NC_000009.12:133333724:C:T p.(Arg129Gln) NC_000009.12:133333724:C:T Identity +NM_001410929.1:c.989C>T NP_001397858.1:p.Pro330Leu NC_000001.11:223229339:G:A p.(Pro330Leu) NC_000001.11:223229339:G:A p.(Pro330Leu) NC_000001.11:223229339:G:A Identity +NM_153366.4:c.9256A>G NP_699197.3:p.Ile3086Val NC_000009.12:110406343:T:C p.(Ile3086Val) NC_000009.12:110406343:T:C p.(Ile3086Val) NC_000009.12:110406343:T:C Identity +NM_001012508.6:c.164A>C NP_001012526.2:p.Gln55Pro NC_000010.11:133423517:T:G p.(Gln55Pro) NC_000010.11:133423517:T:G p.(Gln55Pro) NC_000010.11:133423517:T:G Identity +NM_001199828.2:c.227C>A NP_001186757.1:p.Thr76Lys NC_000001.11:152985456:C:A p.(Thr76Lys) NC_000001.11:152985456:C:A p.(Thr76Lys) NC_000001.11:152985456:C:A Identity +NM_003126.4:c.3384T>G NP_003117.2:p.Asn1128Lys NC_000001.11:158651459:A:C p.(Asn1128Lys) NC_000001.11:158651459:A:C p.(Asn1128Lys) NC_000001.11:158651459:A:C Identity +NM_001130438.3:c.1703A>G NP_001123910.1:p.Gln568Arg NC_000009.12:128582745:A:G p.(Gln568Arg) NC_000009.12:128582745:A:G p.(Gln568Arg) NC_000009.12:128582745:A:G Identity +NM_016642.4:c.8660C>T NP_057726.4:p.Thr2887Met NC_000015.10:41857000:G:A p.(Thr2887Met) NC_000015.10:41857000:G:A p.(Thr2887Met) NC_000015.10:41857000:G:A Identity +NM_001367656.1:c.229A>G NP_001354585.1:p.Ser77Gly NC_000014.9:61996247:A:G p.(Ser77Gly) NC_000014.9:61996247:A:G p.(Ser77Gly) NC_000014.9:61996247:A:G Identity +NM_001161708.2:c.573G>C NP_001155180.2:p.Glu191Asp NC_000001.11:32695524:C:G p.(Glu191Asp) NC_000001.11:32695524:C:G p.(Glu191Asp) NC_000001.11:32695524:C:G Identity +NM_001005291.3:c.1918C>T NP_001005291.1:p.Arg640Trp NC_000017.11:17816675:G:A p.(Arg640Trp) NC_000017.11:17816675:G:A p.(Arg640Trp) NC_000017.11:17816675:G:A Identity +NM_016333.4:c.7468C>A NP_057417.3:p.His2490Asn NC_000016.10:2767995:C:A p.(His2490Asn) NC_000016.10:2767995:C:A p.(His2490Asn) NC_000016.10:2767995:C:A Identity +NM_005626.5:c.889A>G NP_005617.2:p.Lys297Glu NC_000001.11:29149005:T:C p.(Lys297Glu) NC_000001.11:29149005:T:C p.(Lys297Glu) NC_000001.11:29149005:T:C Identity +NM_001163544.3:c.1760G>T NP_001157016.1:p.Ser587Ile NC_000017.11:37553728:C:A p.(Ser587Ile) NC_000017.11:37553728:C:A p.(Ser587Ile) NC_000017.11:37553728:C:A Identity +NM_198992.4:c.641A>G NP_945343.1:p.Tyr214Cys NC_000012.12:33407224:T:C p.(Tyr214Cys) NC_000012.12:33407224:T:C p.(Tyr214Cys) NC_000012.12:33407224:T:C Identity +NM_020783.4:c.1256G>T NP_065834.1:p.Trp419Leu NC_000018.10:43270362:C:A p.(Trp419Leu) NC_000018.10:43270362:C:A p.(Trp419Leu) NC_000018.10:43270362:C:A Identity +NM_001193308.2:c.1463G>A NP_001180237.1:p.Arg488His NC_000001.11:27353401:G:A p.(Arg488His) NC_000001.11:27353401:G:A p.(Arg488His) NC_000001.11:27353401:G:A Identity +NM_001162951.4:c.1559C>T NP_001156423.1:p.Ser520Leu NC_000011.10:85720859:G:A p.(Ser520Leu) NC_000011.10:85720859:G:A p.(Ser520Leu) NC_000011.10:85720859:G:A Identity +NM_001243156.2:c.2075G>T NP_001230085.2:p.Ser692Ile NC_000016.10:84179397:C:A p.(Ser692Ile) NC_000016.10:84179397:C:A p.(Ser692Ile) NC_000016.10:84179397:C:A Identity +NM_001293725.2:c.2360A>G NP_001280654.1:p.Gln787Arg NC_000018.10:26357717:A:G p.(Gln787Arg) NC_000018.10:26357717:A:G p.(Gln787Arg) NC_000018.10:26357717:A:G Identity +NM_000051.4:c.2019G>T NP_000042.3:p.Lys673Asn NC_000011.10:108253933:G:T p.(Lys673Asn) NC_000011.10:108253933:G:T p.(Lys673Asn) NC_000011.10:108253933:G:T Identity +NM_001163544.3:c.68G>C NP_001157016.1:p.Gly23Ala NC_000017.11:37609287:C:G p.(Gly23Ala) NC_000017.11:37609287:C:G p.(Gly23Ala) NC_000017.11:37609287:C:G Identity +NM_001129896.3:c.579T>A NP_001123368.1:p.Ser193Arg NC_000023.11:100691169:A:T p.(Ser193Arg) NC_000023.11:100691169:A:T p.(Ser193Arg) NC_000023.11:100691169:A:T Identity +NM_175057.4:c.165T>G NP_778227.3:p.Ile55Met NC_000006.12:132538453:T:G p.(Ile55Met) NC_000006.12:132538453:T:G p.(Ile55Met) NC_000006.12:132538453:T:G Identity +NM_001166105.3:c.1103C>G NP_001159577.2:p.Thr368Ser NC_000017.11:37474585:C:G p.(Thr368Ser) NC_000017.11:37474585:C:G p.(Thr368Ser) NC_000017.11:37474585:C:G Identity +NM_001293725.2:c.1984A>G NP_001280654.1:p.Ile662Val NC_000018.10:26315364:A:G p.(Ile662Val) NC_000018.10:26315364:A:G p.(Ile662Val) NC_000018.10:26315364:A:G Identity +NM_001145909.2:c.851T>C NP_001139381.1:p.Leu284Pro NC_000002.12:159163453:T:C p.(Leu284Pro) NC_000002.12:159163453:T:C p.(Leu284Pro) NC_000002.12:159163453:T:C Identity +NM_138697.4:c.1055G>C NP_619642.2:p.Cys352Ser NC_000001.11:6575186:G:C p.(Cys352Ser) NC_000001.11:6575186:G:C p.(Cys352Ser) NC_000001.11:6575186:G:C Identity +NM_152232.6:c.1988G>C NP_689418.2:p.Ser663Thr NC_000001.11:18840130:C:G p.(Ser663Thr) NC_000001.11:18840130:C:G p.(Ser663Thr) NC_000001.11:18840130:C:G Identity +NM_017857.4:c.1049T>C NP_060327.3:p.Leu350Pro NC_000011.10:67308445:T:C p.(Leu350Pro) NC_000011.10:67308445:T:C p.(Leu350Pro) NC_000011.10:67308445:T:C Identity +NM_001053.4:c.116G>A NP_001044.1:p.Arg39Gln NC_000016.10:1078983:G:A p.(Arg39Gln) NC_000016.10:1078983:G:A p.(Arg39Gln) NC_000016.10:1078983:G:A Identity +NM_005668.6:c.709G>A NP_005659.1:p.Val237Met NC_000005.10:100856190:C:T p.(Val237Met) NC_000005.10:100856190:C:T p.(Val237Met) NC_000005.10:100856190:C:T Identity +NM_152228.3:c.1525C>A NP_689414.2:p.Arg509Ser NC_000001.11:1333303:C:A p.(Arg509Ser) NC_000001.11:1333303:C:A p.(Arg509Ser) NC_000001.11:1333303:C:A Identity +NM_001321783.2:c.4951A>C NP_001308712.2:p.Met1651Leu NC_000010.11:5748371:A:C p.(Met1651Leu) NC_000010.11:5748371:A:C p.(Met1651Leu) NC_000010.11:5748371:A:C Identity +NM_001267571.2:c.1768C>T NP_001254500.1:p.His590Tyr NC_000009.12:98209049:G:A p.(His590Tyr) NC_000009.12:98209049:G:A p.(His590Tyr) NC_000009.12:98209049:G:A Identity +NM_031923.4:c.2654A>G NP_114129.1:p.Asp885Gly NC_000010.11:8013815:A:G p.(Asp885Gly) NC_000010.11:8013815:A:G p.(Asp885Gly) NC_000010.11:8013815:A:G Identity +NM_001168474.2:c.706C>T NP_001161946.1:p.Arg236Trp NC_000023.11:101276513:G:A p.(Arg236Trp) NC_000023.11:101276513:G:A p.(Arg236Trp) NC_000023.11:101276513:G:A Identity +NM_177437.1:c.145C>T NP_803186.1:p.Arg49Trp NC_000007.14:143443596:C:T p.(Arg49Trp) NC_000007.14:143443596:C:T p.(Arg49Trp) NC_000007.14:143443596:C:T Identity +NM_001321783.2:c.5398G>A NP_001308712.2:p.Gly1800Arg NC_000010.11:5748818:G:A p.(Gly1800Arg) NC_000010.11:5748818:G:A p.(Gly1800Arg) NC_000010.11:5748818:G:A Identity +NM_015527.4:c.100G>A NP_056342.3:p.Val34Met NC_000016.10:30370083:C:T p.(Val34Met) NC_000016.10:30370083:C:T p.(Val34Met) NC_000016.10:30370083:C:T Identity +NM_001286434.2:c.89C>T NP_001273363.1:p.Ala30Val NC_000015.10:73881671:C:T p.(Ala30Val) NC_000015.10:73881671:C:T p.(Ala30Val) NC_000015.10:73881671:C:T Identity +NM_001284303.2:c.791A>T NP_001271232.1:p.Glu264Val NC_000022.11:46974298:A:T p.(Glu264Val) NC_000022.11:46974298:A:T p.(Glu264Val) NC_000022.11:46974298:A:T Identity +NM_001394755.1:c.593T>C NP_001381684.1:p.Leu198Pro NC_000017.11:47698733:T:C p.(Leu198Pro) NC_000017.11:47698733:T:C p.(Leu198Pro) NC_000017.11:47698733:T:C Identity +NM_176881.2:c.511A>C NP_795362.2:p.Ser171Arg NC_000007.14:143183928:A:C p.(Ser171Arg) NC_000007.14:143183928:A:C p.(Ser171Arg) NC_000007.14:143183928:A:C Identity +NM_001362660.2:c.923C>G NP_001349589.1:p.Pro308Arg NC_000007.14:73570828:G:C p.(Pro308Arg) NC_000007.14:73570828:G:C p.(Pro308Arg) NC_000007.14:73570828:G:C Identity +NM_006453.3:c.473C>G NP_006444.2:p.Ala158Gly NC_000016.10:1974935:C:G p.(Ala158Gly) NC_000016.10:1974935:C:G p.(Ala158Gly) NC_000016.10:1974935:C:G Identity +NM_001128595.3:c.1241A>G NP_001122067.2:p.Asn414Ser NC_000014.9:91785282:T:C p.(Asn414Ser) NC_000014.9:91785282:T:C p.(Asn414Ser) NC_000014.9:91785282:T:C Identity +NM_001261817.2:c.821C>A NP_001248746.2:p.Ala274Glu NC_000006.12:35120525:G:T p.(Ala274Glu) NC_000006.12:35120525:G:T p.(Ala274Glu) NC_000006.12:35120525:G:T Identity +NM_001110822.2:c.1000G>T NP_001104292.1:p.Gly334Cys NC_000019.10:32773491:G:T p.(Gly334Cys) NC_000019.10:32773491:G:T p.(Gly334Cys) NC_000019.10:32773491:G:T Identity +NM_001321120.2:c.1635C>A NP_001308049.1:p.Asp545Glu NC_000017.11:61483509:C:A p.(Asp545Glu) NC_000017.11:61483509:C:A p.(Asp545Glu) NC_000017.11:61483509:C:A Identity +NM_153046.3:c.1637C>T NP_694591.2:p.Pro546Leu NC_000014.9:104005328:C:T p.(Pro546Leu) NC_000014.9:104005328:C:T p.(Pro546Leu) NC_000014.9:104005328:C:T Identity +NM_144705.4:c.416T>A NP_653306.1:p.Ile139Asn NC_000002.12:94871994:T:A p.(Ile139Asn) NC_000002.12:94871994:T:A p.(Ile139Asn) NC_000002.12:94871994:T:A Identity +NM_001098816.3:c.1004A>G NP_001092286.2:p.Lys335Arg NC_000011.10:78889864:T:C p.(Lys335Arg) NC_000011.10:78889864:T:C p.(Lys335Arg) NC_000011.10:78889864:T:C Identity +NM_001001433.3:c.628G>A NP_001001433.1:p.Asp210Asn NC_000020.11:58670582:G:A p.(Asp210Asn) NC_000020.11:58670582:G:A p.(Asp210Asn) NC_000020.11:58670582:G:A Identity +NM_000051.4:c.3472A>G NP_000042.3:p.Ile1158Val NC_000011.10:108281063:A:G p.(Ile1158Val) NC_000011.10:108281063:A:G p.(Ile1158Val) NC_000011.10:108281063:A:G Identity +NM_001008536.2:c.360G>C NP_001008536.1:p.Gln120His NC_000001.11:152087321:C:G p.(Gln120His) NC_000001.11:152087321:C:G p.(Gln120His) NC_000001.11:152087321:C:G Identity +NM_001378761.1:c.5402C>G NP_001365690.1:p.Thr1801Ser NC_000011.10:121157979:C:G p.(Thr1801Ser) NC_000011.10:121157979:C:G p.(Thr1801Ser) NC_000011.10:121157979:C:G Identity +NM_000051.4:c.185G>T NP_000042.3:p.Arg62Ile NC_000011.10:108227887:G:T p.(Arg62Ile) NC_000011.10:108227887:G:T p.(Arg62Ile) NC_000011.10:108227887:G:T Identity +NM_001410929.1:c.1634C>G NP_001397858.1:p.Thr545Ser NC_000001.11:223223274:G:C p.(Thr545Ser) NC_000001.11:223223274:G:C p.(Thr545Ser) NC_000001.11:223223274:G:C Identity +NM_001378761.1:c.4406G>A NP_001365690.1:p.Arg1469Gln NC_000011.10:121137927:G:A p.(Arg1469Gln) NC_000011.10:121137927:G:A p.(Arg1469Gln) NC_000011.10:121137927:G:A Identity +NM_031898.3:c.824G>A NP_114104.1:p.Arg275His NC_000017.11:15314140:C:T p.(Arg275His) NC_000017.11:15314140:C:T p.(Arg275His) NC_000017.11:15314140:C:T Identity +NM_144674.2:c.458C>T NP_653275.1:p.Ser153Leu NC_000016.10:10694415:G:A p.(Ser153Leu) NC_000016.10:10694415:G:A p.(Ser153Leu) NC_000016.10:10694415:G:A Identity +NM_001098816.3:c.308C>A NP_001092286.2:p.Pro103His NC_000011.10:79064922:G:T p.(Pro103His) NC_000011.10:79064922:G:T p.(Pro103His) NC_000011.10:79064922:G:T Identity +NM_001319035.2:c.1802T>C NP_001305964.1:p.Ile601Thr NC_000014.9:20391067:A:G p.(Ile601Thr) NC_000014.9:20391067:A:G p.(Ile601Thr) NC_000014.9:20391067:A:G Identity +NM_001319035.2:c.6436C>G NP_001305964.1:p.Leu2146Val NC_000014.9:20373323:G:C p.(Leu2146Val) NC_000014.9:20373323:G:C p.(Leu2146Val) NC_000014.9:20373323:G:C Identity +NM_018975.4:c.1064G>C NP_061848.2:p.Arg355Thr NC_000016.10:75656474:G:C p.(Arg355Thr) NC_000016.10:75656474:G:C p.(Arg355Thr) NC_000016.10:75656474:G:C Identity +NM_001083953.2:c.5240C>T NP_001077422.1:p.Ala1747Val NC_000002.12:43279820:G:A p.(Ala1747Val) NC_000002.12:43279820:G:A p.(Ala1747Val) NC_000002.12:43279820:G:A Identity +NM_001300910.2:c.497G>A NP_001287839.1:p.Gly166Glu NC_000019.10:15109970:G:A p.(Gly166Glu) NC_000019.10:15109970:G:A p.(Gly166Glu) NC_000019.10:15109970:G:A Identity +NM_015484.5:c.86A>T NP_056299.1:p.Lys29Met NC_000001.11:25232149:T:A p.(Lys29Met) NC_000001.11:25232149:T:A p.(Lys29Met) NC_000001.11:25232149:T:A Identity +NM_015286.6:c.25G>A NP_056101.5:p.Gly9Ser NC_000015.10:99105223:G:A p.(Gly9Ser) NC_000015.10:99105223:G:A p.(Gly9Ser) NC_000015.10:99105223:G:A Identity +NM_052943.4:c.908G>C NP_443175.2:p.Arg303Pro NC_000001.11:27006313:C:G p.(Arg303Pro) NC_000001.11:27006313:C:G p.(Arg303Pro) NC_000001.11:27006313:C:G Identity +NM_001406365.1:c.5351G>T NP_001393294.1:p.Gly1784Val NC_000010.11:68686566:G:T p.(Gly1784Val) NC_000010.11:68686566:G:T p.(Gly1784Val) NC_000010.11:68686566:G:T Identity +NM_001291277.2:c.988C>T NP_001278206.1:p.Pro330Ser NC_000023.11:105219205:G:A p.(Pro330Ser) NC_000023.11:105219205:G:A p.(Pro330Ser) NC_000023.11:105219205:G:A Identity +NM_001105556.3:c.955G>A NP_001099026.1:p.Gly319Ser NC_000001.11:27882278:G:A p.(Gly319Ser) NC_000001.11:27882278:G:A p.(Gly319Ser) NC_000001.11:27882278:G:A Identity +NM_001244676.2:c.560A>T NP_001231605.1:p.His187Leu NC_000002.12:88175389:A:T p.(His187Leu) NC_000002.12:88175389:A:T p.(His187Leu) NC_000002.12:88175389:A:T Identity +NM_000051.4:c.2882T>A NP_000042.3:p.Leu961Ter NC_000011.10:108271106:T:A p.(Leu961Ter) NC_000011.10:108271106:T:A p.(Leu961Ter) NC_000011.10:108271106:T:A Identity +NM_001321792.2:c.641T>C NP_001308721.1:p.Phe214Ser NC_000019.10:54107143:A:G p.(Phe214Ser) NC_000019.10:54107143:A:G p.(Phe214Ser) NC_000019.10:54107143:A:G Identity +NM_001130916.3:c.1154A>T NP_001124388.1:p.Glu385Val NC_000009.12:99147782:A:T p.(Glu385Val) NC_000009.12:99147782:A:T p.(Glu385Val) NC_000009.12:99147782:A:T Identity +NM_052955.3:c.1868C>T NP_443187.1:p.Ala623Val NC_000015.10:43276966:G:A p.(Ala623Val) NC_000015.10:43276966:G:A p.(Ala623Val) NC_000015.10:43276966:G:A Identity +NM_001331102.2:c.668C>T NP_001318031.1:p.Pro223Leu NC_000019.10:36035473:G:A p.(Pro223Leu) NC_000019.10:36035473:G:A p.(Pro223Leu) NC_000019.10:36035473:G:A Identity +NM_001317776.2:c.2065G>T NP_001304705.1:p.Val689Phe NC_000004.12:82918708:G:T p.(Val689Phe) NC_000004.12:82918708:G:T p.(Val689Phe) NC_000004.12:82918708:G:T Identity +NM_001252607.2:c.919G>A NP_001239536.1:p.Asp307Asn NC_000001.11:155202822:C:T p.(Asp307Asn) NC_000001.11:155202822:C:T p.(Asp307Asn) NC_000001.11:155202822:C:T Identity +NM_020783.4:c.229G>A NP_065834.1:p.Asp77Asn NC_000018.10:43274199:C:T p.(Asp77Asn) NC_000018.10:43274199:C:T p.(Asp77Asn) NC_000018.10:43274199:C:T Identity +NM_001162951.4:c.2177G>A NP_001156423.1:p.Arg726His NC_000011.10:85704954:C:T p.(Arg726His) NC_000011.10:85704954:C:T p.(Arg726His) NC_000011.10:85704954:C:T Identity +NM_001286074.2:c.5518C>A NP_001273003.2:p.Gln1840Lys NC_000023.11:71463935:C:A p.(Gln1840Lys) NC_000023.11:71463935:C:A p.(Gln1840Lys) NC_000023.11:71463935:C:A Identity +NM_006351.4:c.757G>A NP_006342.2:p.Val253Met NC_000019.10:7933496:C:T p.(Val253Met) NC_000019.10:7933496:C:T p.(Val253Met) NC_000019.10:7933496:C:T Identity +NM_001252607.2:c.797G>A NP_001239536.1:p.Arg266His NC_000001.11:155202944:C:T p.(Arg266His) NC_000001.11:155202944:C:T p.(Arg266His) NC_000001.11:155202944:C:T Identity +NM_001010923.3:c.1498G>A NP_001010923.1:p.Glu500Lys NC_000006.12:127813142:C:T p.(Glu500Lys) NC_000006.12:127813142:C:T p.(Glu500Lys) NC_000006.12:127813142:C:T Identity +NM_003249.5:c.1717G>A NP_003240.1:p.Ala573Thr NC_000019.10:2810713:G:A p.(Ala573Thr) NC_000019.10:2810713:G:A p.(Ala573Thr) NC_000019.10:2810713:G:A Identity +NM_015204.3:c.4445G>A NP_056019.1:p.Ser1482Asn NC_000007.14:11382582:C:T p.(Ser1482Asn) NC_000007.14:11382582:C:T p.(Ser1482Asn) NC_000007.14:11382582:C:T Identity +NM_001316349.2:c.1958G>A NP_001303278.1:p.Arg653His NC_000002.12:137232940:G:A p.(Arg653His) NC_000002.12:137232940:G:A p.(Arg653His) NC_000002.12:137232940:G:A Identity +NM_001316349.2:c.362G>A NP_001303278.1:p.Arg121His NC_000002.12:137056641:G:A p.(Arg121His) NC_000002.12:137056641:G:A p.(Arg121His) NC_000002.12:137056641:G:A Identity +NM_001243253.2:c.200G>T NP_001230182.1:p.Arg67Leu NC_000005.10:149996148:C:A p.(Arg67Leu) NC_000005.10:149996148:C:A p.(Arg67Leu) NC_000005.10:149996148:C:A Identity +NM_001330295.2:c.502C>T NP_001317224.1:p.His168Tyr NC_000012.12:56433054:G:A p.(His168Tyr) NC_000012.12:56433054:G:A p.(His168Tyr) NC_000012.12:56433054:G:A Identity +NM_024562.2:c.1276C>G NP_078838.1:p.Arg426Gly NC_000016.10:68878261:C:G p.(Arg426Gly) NC_000016.10:68878261:C:G p.(Arg426Gly) NC_000016.10:68878261:C:G Identity +NM_001394547.1:c.2242C>T NP_001381476.1:p.Arg748Cys NC_000015.10:62708570:C:T p.(Arg748Cys) NC_000015.10:62708570:C:T p.(Arg748Cys) NC_000015.10:62708570:C:T Identity +NM_017442.4:c.2200G>A NP_059138.1:p.Ala734Thr NC_000003.12:52222115:C:T p.(Ala734Thr) NC_000003.12:52222115:C:T p.(Ala734Thr) NC_000003.12:52222115:C:T Identity +NM_138691.3:c.478T>A NP_619636.2:p.Phe160Ile NC_000009.12:72742467:T:A p.(Phe160Ile) NC_000009.12:72742467:T:A p.(Phe160Ile) NC_000009.12:72742467:T:A Identity +NM_001308025.1:c.3785A>G NP_001294954.1:p.Asn1262Ser NC_000015.10:89624097:A:G p.(Asn1262Ser) NC_000015.10:89624097:A:G p.(Asn1262Ser) NC_000015.10:89624097:A:G Identity +NM_014177.3:c.403T>C NP_054896.2:p.Ser135Pro NC_000018.10:74155343:T:C p.(Ser135Pro) NC_000018.10:74155343:T:C p.(Ser135Pro) NC_000018.10:74155343:T:C Identity +NM_001303103.2:c.965C>T NP_001290032.1:p.Thr322Met NC_000009.12:81613504:G:A p.(Thr322Met) NC_000009.12:81613504:G:A p.(Thr322Met) NC_000009.12:81613504:G:A Identity +NM_017442.4:c.2701C>T NP_059138.1:p.Arg901Cys NC_000003.12:52221614:G:A p.(Arg901Cys) NC_000003.12:52221614:G:A p.(Arg901Cys) NC_000003.12:52221614:G:A Identity +NM_017442.4:c.1882A>C NP_059138.1:p.Ser628Arg NC_000003.12:52222433:T:G p.(Ser628Arg) NC_000003.12:52222433:T:G p.(Ser628Arg) NC_000003.12:52222433:T:G Identity +NM_152468.5:c.643C>T NP_689681.2:p.Leu215Phe NC_000017.11:78133516:C:T p.(Leu215Phe) NC_000017.11:78133516:C:T p.(Leu215Phe) NC_000017.11:78133516:C:T Identity +NM_001301036.2:c.1264G>A NP_001287965.1:p.Val422Met NC_000012.12:94571511:C:T p.(Val422Met) NC_000012.12:94571511:C:T p.(Val422Met) NC_000012.12:94571511:C:T Identity +NM_001193531.2:c.245A>G NP_001180460.1:p.Asn82Ser NC_000012.12:111943334:T:C p.(Asn82Ser) NC_000012.12:111943334:T:C p.(Asn82Ser) NC_000012.12:111943334:T:C Identity +NM_001193304.3:c.356A>G NP_001180233.1:p.Lys119Arg NC_000002.12:96254885:T:C p.(Lys119Arg) NC_000002.12:96254885:T:C p.(Lys119Arg) NC_000002.12:96254885:T:C Identity +NM_152232.6:c.2150T>G NP_689418.2:p.Ile717Ser NC_000001.11:18839968:A:C p.(Ile717Ser) NC_000001.11:18839968:A:C p.(Ile717Ser) NC_000001.11:18839968:A:C Identity +NM_001349329.2:c.4016C>T NP_001336258.2:p.Thr1339Ile NC_000003.12:100780142:G:A p.(Thr1339Ile) NC_000003.12:100780142:G:A p.(Thr1339Ile) NC_000003.12:100780142:G:A Identity +NM_015527.4:c.1130A>G NP_056342.3:p.Lys377Arg NC_000016.10:30365138:T:C p.(Lys377Arg) NC_000016.10:30365138:T:C p.(Lys377Arg) NC_000016.10:30365138:T:C Identity +NM_015188.2:c.809A>G NP_056003.1:p.His270Arg NC_000010.11:94403421:A:G p.(His270Arg) NC_000010.11:94403421:A:G p.(His270Arg) NC_000010.11:94403421:A:G Identity +NM_001394547.1:c.2200G>T NP_001381476.1:p.Val734Leu NC_000015.10:62708528:G:T p.(Val734Leu) NC_000015.10:62708528:G:T p.(Val734Leu) NC_000015.10:62708528:G:T Identity +NM_001349741.2:c.118G>A NP_001336670.1:p.Gly40Arg NC_000013.11:113495698:G:A p.(Gly40Arg) NC_000013.11:113495698:G:A p.(Gly40Arg) NC_000013.11:113495698:G:A Identity +NM_001320244.2:c.520G>A NP_001307173.1:p.Gly174Arg NC_000001.11:43273241:G:A p.(Gly174Arg) NC_000001.11:43273241:G:A p.(Gly174Arg) NC_000001.11:43273241:G:A Identity +NM_001193304.3:c.357G>C NP_001180233.1:p.Lys119Asn NC_000002.12:96254884:C:G p.(Lys119Asn) NC_000002.12:96254884:C:G p.(Lys119Asn) NC_000002.12:96254884:C:G Identity +NM_015348.2:c.2572G>A NP_056163.1:p.Asp858Asn NC_000002.12:97802506:C:T p.(Asp858Asn) NC_000002.12:97802506:C:T p.(Asp858Asn) NC_000002.12:97802506:C:T Identity +NM_133448.3:c.671T>C NP_597705.2:p.Val224Ala NC_000012.12:129700106:A:G p.(Val224Ala) NC_000012.12:129700106:A:G p.(Val224Ala) NC_000012.12:129700106:A:G Identity +NM_001349741.2:c.281A>G NP_001336670.1:p.His94Arg NC_000013.11:113495861:A:G p.(His94Arg) NC_000013.11:113495861:A:G p.(His94Arg) NC_000013.11:113495861:A:G Identity +NM_017870.4:c.1897G>A NP_060340.2:p.Asp633Asn NC_000011.10:60935308:G:A p.(Asp633Asn) NC_000011.10:60935308:G:A p.(Asp633Asn) NC_000011.10:60935308:G:A Identity +NM_001256541.2:c.272C>T NP_001243470.1:p.Thr91Ile NC_000016.10:1534546:C:T p.(Thr91Ile) NC_000016.10:1534546:C:T p.(Thr91Ile) NC_000016.10:1534546:C:T Identity +NM_001007026.2:c.779T>G NP_001007027.1:p.Ile260Ser NC_000012.12:6936045:T:G p.(Ile260Ser) NC_000012.12:6936045:T:G p.(Ile260Ser) NC_000012.12:6936045:T:G Identity +NM_001286495.2:c.383C>T NP_001273424.1:p.Ala128Val NC_000015.10:52611616:G:A p.(Ala128Val) NC_000015.10:52611616:G:A p.(Ala128Val) NC_000015.10:52611616:G:A Identity +NM_001347004.1:c.547G>C NP_001333933.1:p.Val183Leu NC_000015.10:43151859:G:C p.(Val183Leu) NC_000015.10:43151859:G:C p.(Val183Leu) NC_000015.10:43151859:G:C Identity +NM_001013641.3:c.357G>C NP_001013663.1:p.Glu119Asp NC_000001.11:15744179:G:C p.(Glu119Asp) NC_000001.11:15744179:G:C p.(Glu119Asp) NC_000001.11:15744179:G:C Identity +NM_001085429.2:c.115G>A NP_001078898.1:p.Ala39Thr NC_000007.14:138801358:G:A p.(Ala39Thr) NC_000007.14:138801358:G:A p.(Ala39Thr) NC_000007.14:138801358:G:A Identity +NM_203411.2:c.316G>A NP_981956.1:p.Ala106Thr NC_000017.11:7855549:G:A p.(Ala106Thr) NC_000017.11:7855549:G:A p.(Ala106Thr) NC_000017.11:7855549:G:A Identity +NM_001289000.2:c.1243G>T NP_001275929.1:p.Val415Leu NC_000022.11:37075233:C:A p.(Val415Leu) NC_000022.11:37075233:C:A p.(Val415Leu) NC_000022.11:37075233:C:A Identity +NM_001300747.2:c.167C>T NP_001287676.1:p.Ala56Val NC_000001.11:44660189:G:A p.(Ala56Val) NC_000001.11:44660189:G:A p.(Ala56Val) NC_000001.11:44660189:G:A Identity +NM_001329914.2:c.67G>C NP_001316843.1:p.Ala23Pro NC_000002.12:112055657:G:C p.(Ala23Pro) NC_000002.12:112055657:G:C p.(Ala23Pro) NC_000002.12:112055657:G:C Identity +NM_001165030.3:c.318G>T NP_001158502.1:p.Lys106Asn NC_000011.10:9295308:C:A p.(Lys106Asn) NC_000011.10:9295308:C:A p.(Lys106Asn) NC_000011.10:9295308:C:A Identity +NM_144638.3:c.88G>T NP_653239.1:p.Ala30Ser NC_000003.12:44862011:G:T p.(Ala30Ser) NC_000003.12:44862011:G:T p.(Ala30Ser) NC_000003.12:44862011:G:T Identity +NM_001130083.2:c.313G>A NP_001123555.1:p.Asp105Asn NC_000004.12:8097123:C:T p.(Asp105Asn) NC_000004.12:8097123:C:T p.(Asp105Asn) NC_000004.12:8097123:C:T Identity +NM_001366652.1:c.4209T>G NP_001353581.1:p.Cys1403Trp NC_000005.10:160565629:A:C p.(Cys1403Trp) NC_000005.10:160565629:A:C p.(Cys1403Trp) NC_000005.10:160565629:A:C Identity +NM_003790.3:c.1184C>A NP_003781.1:p.Ala395Glu NC_000001.11:6461503:G:T p.(Ala395Glu) NC_000001.11:6461503:G:T p.(Ala395Glu) NC_000001.11:6461503:G:T Identity +NM_022093.2:c.1471A>G NP_071376.1:p.Lys491Glu NC_000001.11:175094135:A:G p.(Lys491Glu) NC_000001.11:175094135:A:G p.(Lys491Glu) NC_000001.11:175094135:A:G Identity +NM_001012979.3:c.337C>T NP_001012997.1:p.Pro113Ser NC_000023.11:103274226:G:A p.(Pro113Ser) NC_000023.11:103274226:G:A p.(Pro113Ser) NC_000023.11:103274226:G:A Identity +NM_001363612.2:c.707C>G NP_001350541.1:p.Pro236Arg NC_000012.12:103986992:C:G p.(Pro236Arg) NC_000012.12:103986992:C:G p.(Pro236Arg) NC_000012.12:103986992:C:G Identity +NM_024490.4:c.1754C>G NP_077816.1:p.Ser585Cys NC_000015.10:25716751:G:C p.(Ser585Cys) NC_000015.10:25716751:G:C p.(Ser585Cys) NC_000015.10:25716751:G:C Identity +NM_001083947.2:c.114A>G NP_001077416.2:p.Ile38Met NC_000011.10:118099054:A:G p.(Ile38Met) NC_000011.10:118099054:A:G p.(Ile38Met) NC_000011.10:118099054:A:G Identity +NM_001042575.2:c.470A>G NP_001036040.2:p.Tyr157Cys NC_000003.12:112047855:A:G p.(Tyr157Cys) NC_000003.12:112047855:A:G p.(Tyr157Cys) NC_000003.12:112047855:A:G Identity +NM_001308022.2:c.1178C>G NP_001294951.1:p.Pro393Arg NC_000002.12:217848963:G:C p.(Pro393Arg) NC_000002.12:217848963:G:C p.(Pro393Arg) NC_000002.12:217848963:G:C Identity +NM_001308022.2:c.1477G>A NP_001294951.1:p.Ala493Thr NC_000002.12:217848664:C:T p.(Ala493Thr) NC_000002.12:217848664:C:T p.(Ala493Thr) NC_000002.12:217848664:C:T Identity +NM_001416202.1:c.1445C>T NP_001403131.1:p.Pro482Leu NC_000012.12:53059085:C:T p.(Pro482Leu) NC_000012.12:53059085:C:T p.(Pro482Leu) NC_000012.12:53059085:C:T Identity +NM_001185085.2:c.1877A>G NP_001172014.1:p.Lys626Arg NC_000013.11:24700899:A:G p.(Lys626Arg) NC_000013.11:24700899:A:G p.(Lys626Arg) NC_000013.11:24700899:A:G Identity +NM_001013630.2:c.973C>T NP_001013652.1:p.Pro325Ser NC_000001.11:12666483:C:T p.(Pro325Ser) NC_000001.11:12666483:C:T p.(Pro325Ser) NC_000001.11:12666483:C:T Identity +NM_001410991.1:c.1969A>T NP_001397920.1:p.Thr657Ser NC_000009.12:115084370:T:A p.(Thr657Ser) NC_000009.12:115084370:T:A p.(Thr657Ser) NC_000009.12:115084370:T:A Identity +NM_001077654.3:c.307G>A NP_001071122.1:p.Val103Met NC_000005.10:119393120:G:A p.(Val103Met) NC_000005.10:119393120:G:A p.(Val103Met) NC_000005.10:119393120:G:A Identity +NM_003844.4:c.95C>A NP_003835.3:p.Ala32Asp NC_000008.11:23224966:G:T p.(Ala32Asp) NC_000008.11:23224966:G:T p.(Ala32Asp) NC_000008.11:23224966:G:T Identity +NM_001251902.3:c.1360G>C NP_001238831.1:p.Val454Leu NC_000017.11:7387101:G:C p.(Val454Leu) NC_000017.11:7387101:G:C p.(Val454Leu) NC_000017.11:7387101:G:C Identity +NM_001366652.1:c.1237A>T NP_001353581.1:p.Ile413Phe NC_000005.10:160634497:T:A p.(Ile413Phe) NC_000005.10:160634497:T:A p.(Ile413Phe) NC_000005.10:160634497:T:A Identity +NM_001365276.2:c.4834A>C NP_001352205.1:p.Lys1612Gln NC_000006.12:32072145:T:G p.(Lys1612Gln) NC_000006.12:32072145:T:G p.(Lys1612Gln) NC_000006.12:32072145:T:G Identity +NM_001301015.3:c.1726A>G NP_001287944.1:p.Ser576Gly NC_000005.10:149249840:A:G p.(Ser576Gly) NC_000005.10:149249840:A:G p.(Ser576Gly) NC_000005.10:149249840:A:G Identity +NM_001416202.1:c.2869G>A NP_001403131.1:p.Ala957Thr NC_000012.12:53060774:G:A p.(Ala957Thr) NC_000012.12:53060774:G:A p.(Ala957Thr) NC_000012.12:53060774:G:A Identity +NM_033550.4:c.34G>A NP_291028.3:p.Gly12Ser NC_000020.11:46689380:C:T p.(Gly12Ser) NC_000020.11:46689380:C:T p.(Gly12Ser) NC_000020.11:46689380:C:T Identity +NM_003294.4:c.458T>C NP_003285.2:p.Met153Thr NC_000016.10:1241657:T:C p.(Met153Thr) NC_000016.10:1241657:T:C p.(Met153Thr) NC_000016.10:1241657:T:C Identity +NM_001080495.3:c.3104C>T NP_001073964.2:p.Pro1035Leu NC_000007.14:5374179:G:A p.(Pro1035Leu) NC_000007.14:5374179:G:A p.(Pro1035Leu) NC_000007.14:5374179:G:A Identity +NM_001365276.2:c.2932C>T NP_001352205.1:p.Arg978Cys NC_000006.12:32085965:G:A p.(Arg978Cys) NC_000006.12:32085965:G:A p.(Arg978Cys) NC_000006.12:32085965:G:A Identity +NM_001321538.3:c.103C>A NP_001308467.1:p.Pro35Thr NC_000002.12:28998216:C:A p.(Pro35Thr) NC_000002.12:28998216:C:A p.(Pro35Thr) NC_000002.12:28998216:C:A Identity +NM_001067.4:c.3089A>G NP_001058.2:p.Tyr1030Cys NC_000017.11:40399978:T:C p.(Tyr1030Cys) NC_000017.11:40399978:T:C p.(Tyr1030Cys) NC_000017.11:40399978:T:C Identity +NM_001367549.1:c.1951A>G NP_001354478.1:p.Met651Val NC_000003.12:194437358:T:C p.(Met651Val) NC_000003.12:194437358:T:C p.(Met651Val) NC_000003.12:194437358:T:C Identity +NM_001143906.2:c.1496G>A NP_001137378.1:p.Arg499Gln NC_000012.12:112152016:G:A p.(Arg499Gln) NC_000012.12:112152016:G:A p.(Arg499Gln) NC_000012.12:112152016:G:A Identity +NM_001142447.3:c.131G>A NP_001135919.1:p.Arg44Gln NC_000023.11:120366591:G:A p.(Arg44Gln) NC_000023.11:120366591:G:A p.(Arg44Gln) NC_000023.11:120366591:G:A Identity +NM_005173.4:c.1742G>A NP_005164.2:p.Cys581Tyr NC_000017.11:3941457:C:T p.(Cys581Tyr) NC_000017.11:3941457:C:T p.(Cys581Tyr) NC_000017.11:3941457:C:T Identity +NM_001301188.1:c.491G>T NP_001288117.1:p.Arg164Leu NC_000020.11:391485:G:T p.(Arg164Leu) NC_000020.11:391485:G:T p.(Arg164Leu) NC_000020.11:391485:G:T Identity +NM_001136000.3:c.2731G>A NP_001129472.1:p.Ala911Thr NC_000001.11:179108181:C:T p.(Ala911Thr) NC_000001.11:179108181:C:T p.(Ala911Thr) NC_000001.11:179108181:C:T Identity +NM_001033551.3:c.1370T>G NP_001028723.1:p.Leu457Arg NC_000017.11:17847638:A:C p.(Leu457Arg) NC_000017.11:17847638:A:C p.(Leu457Arg) NC_000017.11:17847638:A:C Identity +NM_000366.6:c.773A>T NP_000357.3:p.Asp258Val NC_000015.10:63064063:A:T p.(Asp258Val) NC_000015.10:63064063:A:T p.(Asp258Val) NC_000015.10:63064063:A:T Identity +NM_001008566.3:c.1070C>A NP_001008566.1:p.Ala357Asp NC_000022.11:26532716:G:T p.(Ala357Asp) NC_000022.11:26532716:G:T p.(Ala357Asp) NC_000022.11:26532716:G:T Identity +NM_001395978.1:c.451C>T NP_001382907.1:p.Pro151Ser NC_000013.11:19467285:G:A p.(Pro151Ser) NC_000013.11:19467285:G:A p.(Pro151Ser) NC_000013.11:19467285:G:A Identity +NM_001323552.2:c.499G>A NP_001310481.1:p.Gly167Arg NC_000016.10:67155224:C:T p.(Gly167Arg) NC_000016.10:67155224:C:T p.(Gly167Arg) NC_000016.10:67155224:C:T Identity +NM_001142447.3:c.323G>A NP_001135919.1:p.Ser108Asn NC_000023.11:120366783:G:A p.(Ser108Asn) NC_000023.11:120366783:G:A p.(Ser108Asn) NC_000023.11:120366783:G:A Identity +NM_172367.3:c.527A>G NP_758955.2:p.Lys176Arg NC_000017.11:1298256:A:G p.(Lys176Arg) NC_000017.11:1298256:A:G p.(Lys176Arg) NC_000017.11:1298256:A:G Identity +NM_001413013.1:c.596A>G NP_001399942.1:p.Lys199Arg NC_000012.12:110327622:A:G p.(Lys199Arg) NC_000012.12:110327622:A:G p.(Lys199Arg) NC_000012.12:110327622:A:G Identity +NM_001297573.2:c.2071C>T NP_001284502.1:p.Pro691Ser NC_000006.12:42259596:G:A p.(Pro691Ser) NC_000006.12:42259596:G:A p.(Pro691Ser) NC_000006.12:42259596:G:A Identity +NM_001297573.2:c.749C>T NP_001284502.1:p.Pro250Leu NC_000006.12:42268841:G:A p.(Pro250Leu) NC_000006.12:42268841:G:A p.(Pro250Leu) NC_000006.12:42268841:G:A Identity +NM_001388022.1:c.857A>C NP_001374951.1:p.Lys286Thr NC_000011.10:8646546:T:G p.(Lys286Thr) NC_000011.10:8646546:T:G p.(Lys286Thr) NC_000011.10:8646546:T:G Identity +NM_001321851.1:c.3314A>G NP_001308780.1:p.Asn1105Ser NC_000014.9:92004658:T:C p.(Asn1105Ser) NC_000014.9:92004658:T:C p.(Asn1105Ser) NC_000014.9:92004658:T:C Identity +NM_001284214.2:c.3731C>A NP_001271143.1:p.Ser1244Tyr NC_000002.12:229796594:G:T p.(Ser1244Tyr) NC_000002.12:229796594:G:T p.(Ser1244Tyr) NC_000002.12:229796594:G:T Identity +NM_001031712.3:c.1291G>A NP_001026882.2:p.Asp431Asn NC_000006.12:126038734:G:A p.(Asp431Asn) NC_000006.12:126038734:G:A p.(Asp431Asn) NC_000006.12:126038734:G:A Identity +NM_001321468.1:c.242T>C NP_001308397.1:p.Ile81Thr NC_000002.12:39771524:A:G p.(Ile81Thr) NC_000002.12:39771524:A:G p.(Ile81Thr) NC_000002.12:39771524:A:G Identity +NM_004295.4:c.1332C>G NP_004286.2:p.Asp444Glu NC_000017.11:28749495:C:G p.(Asp444Glu) NC_000017.11:28749495:C:G p.(Asp444Glu) NC_000017.11:28749495:C:G Identity +NM_015049.3:c.2123C>G NP_055864.2:p.Thr708Arg NC_000002.12:201381164:G:C p.(Thr708Arg) NC_000002.12:201381164:G:C p.(Thr708Arg) NC_000002.12:201381164:G:C Identity +NM_152402.3:c.1066A>G NP_689615.2:p.Asn356Asp NC_000004.12:117084327:T:C p.(Asn356Asp) NC_000004.12:117084327:T:C p.(Asn356Asp) NC_000004.12:117084327:T:C Identity +NM_015906.4:c.2966C>T NP_056990.3:p.Ser989Leu NC_000001.11:114401389:G:A p.(Ser989Leu) NC_000001.11:114401389:G:A p.(Ser989Leu) NC_000001.11:114401389:G:A Identity +NM_030961.3:c.601C>T NP_112223.1:p.Pro201Ser NC_000007.14:101087912:C:T p.(Pro201Ser) NC_000007.14:101087912:C:T p.(Pro201Ser) NC_000007.14:101087912:C:T Identity +NM_001013642.3:c.287C>T NP_001013664.2:p.Ala96Val NC_000001.11:26994072:C:T p.(Ala96Val) NC_000001.11:26994072:C:T p.(Ala96Val) NC_000001.11:26994072:C:T Identity +NM_014817.4:c.1262C>T NP_055632.2:p.Ala421Val NC_000007.14:28956784:G:A p.(Ala421Val) NC_000007.14:28956784:G:A p.(Ala421Val) NC_000007.14:28956784:G:A Identity +NM_145214.3:c.643G>A NP_660215.1:p.Ala215Thr NC_000001.11:228401055:C:T p.(Ala215Thr) NC_000001.11:228401055:C:T p.(Ala215Thr) NC_000001.11:228401055:C:T Identity +NM_033549.5:c.998G>C NP_291027.3:p.Arg333Pro NC_000005.10:181232746:G:C p.(Arg333Pro) NC_000005.10:181232746:G:C p.(Arg333Pro) NC_000005.10:181232746:G:C Identity +NM_001410958.1:c.449G>A NP_001397887.1:p.Arg150Lys NC_000011.10:5679137:C:T p.(Arg150Lys) NC_000011.10:5679137:C:T p.(Arg150Lys) NC_000011.10:5679137:C:T Identity +NM_001204414.2:c.494T>C NP_001191343.1:p.Val165Ala NC_000001.11:31584681:T:C p.(Val165Ala) NC_000001.11:31584681:T:C p.(Val165Ala) NC_000001.11:31584681:T:C Identity +NM_001303103.2:c.1554G>T NP_001290032.1:p.Lys518Asn NC_000009.12:81593081:C:A p.(Lys518Asn) NC_000009.12:81593081:C:A p.(Lys518Asn) NC_000009.12:81593081:C:A Identity +NM_001039111.3:c.572T>A NP_001034200.1:p.Leu191Gln NC_000003.12:32818651:T:A p.(Leu191Gln) NC_000003.12:32818651:T:A p.(Leu191Gln) NC_000003.12:32818651:T:A Identity +NM_001092.5:c.1106G>A NP_001083.2:p.Arg369His NC_000017.11:1058832:C:T p.(Arg369His) NC_000017.11:1058832:C:T p.(Arg369His) NC_000017.11:1058832:C:T Identity +NM_001304817.2:c.164T>C NP_001291746.1:p.Val55Ala NC_000001.11:156346767:T:C p.(Val55Ala) NC_000001.11:156346767:T:C p.(Val55Ala) NC_000001.11:156346767:T:C Identity +NM_020632.3:c.22G>A NP_065683.2:p.Glu8Lys NC_000007.14:138771225:C:T p.(Glu8Lys) NC_000007.14:138771225:C:T p.(Glu8Lys) NC_000007.14:138771225:C:T Identity +NM_000548.5:c.4274G>C NP_000539.2:p.Gly1425Ala NC_000016.10:2084495:G:C p.(Gly1425Ala) NC_000016.10:2084495:G:C p.(Gly1425Ala) NC_000016.10:2084495:G:C Identity +NM_000548.5:c.4415G>A NP_000539.2:p.Gly1472Asp NC_000016.10:2084636:G:A p.(Gly1472Asp) NC_000016.10:2084636:G:A p.(Gly1472Asp) NC_000016.10:2084636:G:A Identity +NM_000548.5:c.1961G>T NP_000539.2:p.Gly654Val NC_000016.10:2071797:G:T p.(Gly654Val) NC_000016.10:2071797:G:T p.(Gly654Val) NC_000016.10:2071797:G:T Identity +NM_178556.5:c.200C>T NP_848651.2:p.Ser67Leu NC_000004.12:188139757:C:T p.(Ser67Leu) NC_000004.12:188139757:C:T p.(Ser67Leu) NC_000004.12:188139757:C:T Identity +NM_001281467.2:c.619C>T NP_001268396.1:p.Arg207Cys NC_000020.11:5941328:G:A p.(Arg207Cys) NC_000020.11:5941328:G:A p.(Arg207Cys) NC_000020.11:5941328:G:A Identity +NM_000704.3:c.988C>T NP_000695.2:p.Arg330Trp NC_000019.10:35559872:G:A p.(Arg330Trp) NC_000019.10:35559872:G:A p.(Arg330Trp) NC_000019.10:35559872:G:A Identity +NM_000051.4:c.1295T>C NP_000042.3:p.Leu432Pro NC_000011.10:108250759:T:C p.(Leu432Pro) NC_000011.10:108250759:T:C p.(Leu432Pro) NC_000011.10:108250759:T:C Identity +NM_018128.5:c.49A>G NP_060598.3:p.Lys17Glu NC_000017.11:2336378:T:C p.(Lys17Glu) NC_000017.11:2336378:T:C p.(Lys17Glu) NC_000017.11:2336378:T:C Identity +NM_001105513.3:c.105C>G NP_001098983.2:p.Phe35Leu NC_000003.12:39109161:C:G p.(Phe35Leu) NC_000003.12:39109161:C:G p.(Phe35Leu) NC_000003.12:39109161:C:G Identity +NM_001007471.4:c.3212G>A NP_001007472.2:p.Arg1071Gln NC_000009.12:70553285:C:T p.(Arg1071Gln) NC_000009.12:70553285:C:T p.(Arg1071Gln) NC_000009.12:70553285:C:T Identity +NM_001697.3:c.460C>G NP_001688.1:p.Leu154Val NC_000021.9:33904002:G:C p.(Leu154Val) NC_000021.9:33904002:G:C p.(Leu154Val) NC_000021.9:33904002:G:C Identity +NM_001395491.1:c.1615G>C NP_001382420.1:p.Glu539Gln NC_000011.10:65959844:G:C p.(Glu539Gln) NC_000011.10:65959844:G:C p.(Glu539Gln) NC_000011.10:65959844:G:C Identity +NM_001130045.2:c.137G>A NP_001123517.1:p.Arg46His NC_000001.11:1179674:G:A p.(Arg46His) NC_000001.11:1179674:G:A p.(Arg46His) NC_000001.11:1179674:G:A Identity +NM_015140.4:c.591C>A NP_055955.1:p.Phe197Leu NC_000022.11:43179955:G:T p.(Phe197Leu) NC_000022.11:43179955:G:T p.(Phe197Leu) NC_000022.11:43179955:G:T Identity +NM_000548.5:c.1993C>T NP_000539.2:p.Pro665Ser NC_000016.10:2071829:C:T p.(Pro665Ser) NC_000016.10:2071829:C:T p.(Pro665Ser) NC_000016.10:2071829:C:T Identity +NM_001291586.2:c.660G>T NP_001278515.1:p.Leu220Phe NC_000017.11:43217303:G:T p.(Leu220Phe) NC_000017.11:43217303:G:T p.(Leu220Phe) NC_000017.11:43217303:G:T Identity +NM_017870.4:c.1553C>G NP_060340.2:p.Pro518Arg NC_000011.10:60933734:C:G p.(Pro518Arg) NC_000011.10:60933734:C:G p.(Pro518Arg) NC_000011.10:60933734:C:G Identity +NM_133448.3:c.3288T>G NP_597705.2:p.His1096Gln NC_000012.12:129073886:A:C p.(His1096Gln) NC_000012.12:129073886:A:C p.(His1096Gln) NC_000012.12:129073886:A:C Identity +NM_020856.4:c.626C>T NP_065907.2:p.Thr209Met NC_000019.10:31279166:G:A p.(Thr209Met) NC_000019.10:31279166:G:A p.(Thr209Met) NC_000019.10:31279166:G:A Identity +NM_021733.2:c.1634C>A NP_068379.1:p.Ala545Asp NC_000019.10:49739920:G:T p.(Ala545Asp) NC_000019.10:49739920:G:T p.(Ala545Asp) NC_000019.10:49739920:G:T Identity +NM_000369.5:c.1559G>C NP_000360.2:p.Trp520Ser NC_000014.9:81143616:G:C p.(Trp520Ser) NC_000014.9:81143616:G:C p.(Trp520Ser) NC_000014.9:81143616:G:C Identity +NM_022117.4:c.1919G>A NP_071400.1:p.Gly640Asp NC_000023.11:53087775:G:A p.(Gly640Asp) NC_000023.11:53087775:G:A p.(Gly640Asp) NC_000023.11:53087775:G:A Identity +NM_022117.4:c.18G>C NP_071400.1:p.Glu6Asp NC_000023.11:53082515:G:C p.(Glu6Asp) NC_000023.11:53082515:G:C p.(Glu6Asp) NC_000023.11:53082515:G:C Identity +NM_018128.5:c.1601C>T NP_060598.3:p.Thr534Ile NC_000017.11:2331004:G:A p.(Thr534Ile) NC_000017.11:2331004:G:A p.(Thr534Ile) NC_000017.11:2331004:G:A Identity +NM_001289007.2:c.1070C>T NP_001275936.1:p.Thr357Met NC_000005.10:88198994:G:A p.(Thr357Met) NC_000005.10:88198994:G:A p.(Thr357Met) NC_000005.10:88198994:G:A Identity +NM_001195071.1:c.731G>T NP_001182000.1:p.Ser244Ile NC_000022.11:38225479:C:A p.(Ser244Ile) NC_000022.11:38225479:C:A p.(Ser244Ile) NC_000022.11:38225479:C:A Identity +NM_003492.3:c.178G>A NP_003483.1:p.Val60Met NC_000023.11:153982239:G:A p.(Val60Met) NC_000023.11:153982239:G:A p.(Val60Met) NC_000023.11:153982239:G:A Identity +NM_001317949.2:c.947A>T NP_001304878.1:p.Tyr316Phe NC_000005.10:34868983:A:T p.(Tyr316Phe) NC_000005.10:34868983:A:T p.(Tyr316Phe) NC_000005.10:34868983:A:T Identity +NM_138376.3:c.73T>G NP_612385.2:p.Ser25Ala NC_000014.9:20301943:A:C p.(Ser25Ala) NC_000014.9:20301943:A:C p.(Ser25Ala) NC_000014.9:20301943:A:C Identity +NM_001205296.2:c.52G>A NP_001192225.1:p.Ala18Thr NC_000009.12:132398320:C:T p.(Ala18Thr) NC_000009.12:132398320:C:T p.(Ala18Thr) NC_000009.12:132398320:C:T Identity +NM_001303457.2:c.68A>G NP_001290386.1:p.Lys23Arg NC_000020.11:38013748:T:C p.(Lys23Arg) NC_000020.11:38013748:T:C p.(Lys23Arg) NC_000020.11:38013748:T:C Identity +NM_001171864.2:c.764T>A NP_001165335.1:p.Val255Glu NC_000010.11:5393973:A:T p.(Val255Glu) NC_000010.11:5393973:A:T p.(Val255Glu) NC_000010.11:5393973:A:T Identity +NM_001289395.2:c.1165G>A NP_001276324.1:p.Ala389Thr NC_000006.12:35500151:C:T p.(Ala389Thr) NC_000006.12:35500151:C:T p.(Ala389Thr) NC_000006.12:35500151:C:T Identity +NM_003323.3:c.759G>A NP_003314.2:p.Met253Ile NC_000019.10:48888138:C:T p.(Met253Ile) NC_000019.10:48888138:C:T p.(Met253Ile) NC_000019.10:48888138:C:T Identity +NM_001321148.2:c.1363A>C NP_001308077.1:p.Ser455Arg NC_000017.11:75491401:A:C p.(Ser455Arg) NC_000017.11:75491401:A:C p.(Ser455Arg) NC_000017.11:75491401:A:C Identity +NM_001256617.2:c.1703G>A NP_001243546.1:p.Arg568Gln NC_000010.11:133288231:C:T p.(Arg568Gln) NC_000010.11:133288231:C:T p.(Arg568Gln) NC_000010.11:133288231:C:T Identity +NM_020245.5:c.3494G>A NP_064630.2:p.Arg1165Gln NC_000006.12:158503156:G:A p.(Arg1165Gln) NC_000006.12:158503156:G:A p.(Arg1165Gln) NC_000006.12:158503156:G:A Identity +NM_001009881.3:c.1496C>T NP_001009881.1:p.Ala499Val NC_000001.11:52488927:G:A p.(Ala499Val) NC_000001.11:52488927:G:A p.(Ala499Val) NC_000001.11:52488927:G:A Identity +NM_001185059.2:c.284A>G NP_001171988.1:p.Lys95Arg NC_000009.12:86352915:T:C p.(Lys95Arg) NC_000009.12:86352915:T:C p.(Lys95Arg) NC_000009.12:86352915:T:C Identity +NM_021156.4:c.355T>A NP_066979.2:p.Phe119Ile NC_000020.11:7999843:A:T p.(Phe119Ile) NC_000020.11:7999843:A:T p.(Phe119Ile) NC_000020.11:7999843:A:T Identity +NM_001142317.2:c.80T>C NP_001135789.1:p.Val27Ala NC_000016.10:72090669:A:G p.(Val27Ala) NC_000016.10:72090669:A:G p.(Val27Ala) NC_000016.10:72090669:A:G Identity +NM_001243.5:c.1198G>A NP_001234.3:p.Gly400Ser NC_000001.11:12125994:G:A p.(Gly400Ser) NC_000001.11:12125994:G:A p.(Gly400Ser) NC_000001.11:12125994:G:A Identity +NM_001252385.2:c.1097A>G NP_001239314.1:p.Lys366Arg NC_000005.10:151042576:T:C p.(Lys366Arg) NC_000005.10:151042576:T:C p.(Lys366Arg) NC_000005.10:151042576:T:C Identity +NM_033396.3:c.1177G>A NP_203754.2:p.Glu393Lys NC_000011.10:57313510:C:T p.(Glu393Lys) NC_000011.10:57313510:C:T p.(Glu393Lys) NC_000011.10:57313510:C:T Identity +NM_001405661.1:c.2922T>G NP_001392590.1:p.Phe974Leu NC_000013.11:112862505:T:G p.(Phe974Leu) NC_000013.11:112862505:T:G p.(Phe974Leu) NC_000013.11:112862505:T:G Identity +NM_001365276.2:c.9878T>C NP_001352205.1:p.Leu3293Pro NC_000006.12:32048529:A:G p.(Leu3293Pro) NC_000006.12:32048529:A:G p.(Leu3293Pro) NC_000006.12:32048529:A:G Identity +NM_032279.4:c.894T>G NP_115655.2:p.Asp298Glu NC_000003.12:193470907:A:C p.(Asp298Glu) NC_000003.12:193470907:A:C p.(Asp298Glu) NC_000003.12:193470907:A:C Identity +NM_000546.6:c.446C>G NP_000537.3:p.Ser149Cys NC_000017.11:7675165:G:C p.(Ser149Cys) NC_000017.11:7675165:G:C p.(Ser149Cys) NC_000017.11:7675165:G:C Identity +NM_001141979.3:c.4333G>A NP_001135451.1:p.Val1445Met NC_000015.10:43420652:C:T p.(Val1445Met) NC_000015.10:43420652:C:T p.(Val1445Met) NC_000015.10:43420652:C:T Identity +NM_001031685.3:c.1469T>C NP_001026855.2:p.Ile490Thr NC_000001.11:223799914:A:G p.(Ile490Thr) NC_000001.11:223799914:A:G p.(Ile490Thr) NC_000001.11:223799914:A:G Identity +NM_001323552.2:c.118G>T NP_001310481.1:p.Ala40Ser NC_000016.10:67156542:C:A p.(Ala40Ser) NC_000016.10:67156542:C:A p.(Ala40Ser) NC_000016.10:67156542:C:A Identity +NM_012288.4:c.253A>G NP_036420.1:p.Thr85Ala NC_000006.12:52516668:T:C p.(Thr85Ala) NC_000006.12:52516668:T:C p.(Thr85Ala) NC_000006.12:52516668:T:C Identity +NM_021643.4:c.872G>A NP_067675.1:p.Arg291Gln NC_000002.12:12740633:G:A p.(Arg291Gln) NC_000002.12:12740633:G:A p.(Arg291Gln) NC_000002.12:12740633:G:A Identity +NM_014788.4:c.1223C>T NP_055603.2:p.Thr408Met NC_000009.12:98087575:G:A p.(Thr408Met) NC_000009.12:98087575:G:A p.(Thr408Met) NC_000009.12:98087575:G:A Identity +NM_001348119.1:c.1568C>T NP_001335048.1:p.Ala523Val NC_000017.11:15628741:G:A p.(Ala523Val) NC_000017.11:15628741:G:A p.(Ala523Val) NC_000017.11:15628741:G:A Identity +NM_032546.4:c.505C>T NP_115935.3:p.Arg169Cys NC_000002.12:27299407:C:T p.(Arg169Cys) NC_000002.12:27299407:C:T p.(Arg169Cys) NC_000002.12:27299407:C:T Identity +NM_001330483.2:c.359G>A NP_001317412.1:p.Arg120Gln NC_000001.11:33159726:C:T p.(Arg120Gln) NC_000001.11:33159726:C:T p.(Arg120Gln) NC_000001.11:33159726:C:T Identity +NM_001256124.2:c.245G>A NP_001243053.1:p.Gly82Asp NC_000017.11:75896692:C:T p.(Gly82Asp) NC_000017.11:75896692:C:T p.(Gly82Asp) NC_000017.11:75896692:C:T Identity +NM_018073.8:c.149C>A NP_060543.5:p.Ser50Tyr NC_000011.10:4605355:G:T p.(Ser50Tyr) NC_000011.10:4605355:G:T p.(Ser50Tyr) NC_000011.10:4605355:G:T Identity +NM_203293.3:c.1382T>C NP_976038.1:p.Val461Ala NC_000005.10:181195319:A:G p.(Val461Ala) NC_000005.10:181195319:A:G p.(Val461Ala) NC_000005.10:181195319:A:G Identity +NM_001345950.1:c.1543C>T NP_001332879.1:p.His515Tyr NC_000010.11:102657336:C:T p.(His515Tyr) NC_000010.11:102657336:C:T p.(His515Tyr) NC_000010.11:102657336:C:T Identity +NM_001321851.1:c.2468G>A NP_001308780.1:p.Ser823Asn NC_000014.9:92005504:C:T p.(Ser823Asn) NC_000014.9:92005504:C:T p.(Ser823Asn) NC_000014.9:92005504:C:T Identity +NM_000368.5:c.574T>A NP_000359.1:p.Tyr192Asn NC_000009.12:132921907:A:T p.(Tyr192Asn) NC_000009.12:132921907:A:T p.(Tyr192Asn) NC_000009.12:132921907:A:T Identity +NM_207346.3:c.350C>T NP_997229.2:p.Ala117Val NC_000017.11:75517224:C:T p.(Ala117Val) NC_000017.11:75517224:C:T p.(Ala117Val) NC_000017.11:75517224:C:T Identity +NM_001042601.3:c.569G>A NP_001036066.1:p.Arg190Gln NC_000003.12:180604306:G:A p.(Arg190Gln) NC_000003.12:180604306:G:A p.(Arg190Gln) NC_000003.12:180604306:G:A Identity +NM_001193509.2:c.1648A>G NP_001180438.1:p.Asn550Asp NC_000002.12:32782643:A:G p.(Asn550Asp) NC_000002.12:32782643:A:G p.(Asn550Asp) NC_000002.12:32782643:A:G Identity +NM_001288951.2:c.2096G>A NP_001275880.1:p.Arg699Gln NC_000002.12:47051751:G:A p.(Arg699Gln) NC_000002.12:47051751:G:A p.(Arg699Gln) NC_000002.12:47051751:G:A Identity +NM_024837.4:c.2701G>T NP_079113.2:p.Val901Phe NC_000015.10:49879455:C:A p.(Val901Phe) NC_000015.10:49879455:C:A p.(Val901Phe) NC_000015.10:49879455:C:A Identity +NM_003323.3:c.191A>G NP_003314.2:p.Glu64Gly NC_000019.10:48896449:T:C p.(Glu64Gly) NC_000019.10:48896449:T:C p.(Glu64Gly) NC_000019.10:48896449:T:C Identity +NM_003328.3:c.125A>G NP_003319.2:p.Tyr42Cys NC_000004.12:48113255:T:C p.(Tyr42Cys) NC_000004.12:48113255:T:C p.(Tyr42Cys) NC_000004.12:48113255:T:C Identity +NM_001105562.3:c.2636C>T NP_001099032.1:p.Ala879Val NC_000001.11:10149227:C:T p.(Ala879Val) NC_000001.11:10149227:C:T p.(Ala879Val) NC_000001.11:10149227:C:T Identity +NM_001304437.2:c.2T>C NP_001291366.1:p.Met1Thr NC_000006.12:83058001:A:G p.(Met1Thr) NC_000006.12:83058001:A:G p.Met1? NC_000006.12:83058001:A:G Identity +NM_013444.4:c.341A>G NP_038472.2:p.Gln114Arg NC_000023.11:56564213:A:G p.(Gln114Arg) NC_000023.11:56564213:A:G p.(Gln114Arg) NC_000023.11:56564213:A:G Identity +NM_014607.4:c.845G>A NP_055422.1:p.Arg282His NC_000002.12:135772441:G:A p.(Arg282His) NC_000002.12:135772441:G:A p.(Arg282His) NC_000002.12:135772441:G:A Identity +NM_015323.5:c.1595G>T NP_056138.1:p.Gly532Val NC_000006.12:96549485:G:T p.(Gly532Val) NC_000006.12:96549485:G:T p.(Gly532Val) NC_000006.12:96549485:G:T Identity +NM_001001521.2:c.1148C>T NP_001001521.1:p.Pro383Leu NC_000002.12:63887510:C:T p.(Pro383Leu) NC_000002.12:63887510:C:T p.(Pro383Leu) NC_000002.12:63887510:C:T Identity +NM_021027.3:c.343G>A NP_066307.1:p.Asp115Asn NC_000002.12:233672276:G:A p.(Asp115Asn) NC_000002.12:233672276:G:A p.(Asp115Asn) NC_000002.12:233672276:G:A Identity +NM_003728.4:c.884G>C NP_003719.3:p.Gly295Ala NC_000004.12:95245035:C:G p.(Gly295Ala) NC_000004.12:95245035:C:G p.(Gly295Ala) NC_000004.12:95245035:C:G Identity +NM_001184.4:c.3457A>T NP_001175.2:p.Asn1153Tyr NC_000003.12:142541027:T:A p.(Asn1153Tyr) NC_000003.12:142541027:T:A p.(Asn1153Tyr) NC_000003.12:142541027:T:A Identity +NM_001346218.2:c.5423A>C NP_001333147.1:p.Glu1808Ala NC_000014.9:93622505:A:C p.(Glu1808Ala) NC_000014.9:93622505:A:C p.(Glu1808Ala) NC_000014.9:93622505:A:C Identity +NM_001199297.2:c.1502A>G NP_001186226.1:p.Asn501Ser NC_000005.10:176943429:T:C p.(Asn501Ser) NC_000005.10:176943429:T:C p.(Asn501Ser) NC_000005.10:176943429:T:C Identity +NM_001322500.2:c.2060T>C NP_001309429.1:p.Ile687Thr NC_000003.12:41789793:A:G p.(Ile687Thr) NC_000003.12:41789793:A:G p.(Ile687Thr) NC_000003.12:41789793:A:G Identity +NM_001322500.2:c.956A>G NP_001309429.1:p.Gln319Arg NC_000003.12:41911599:T:C p.(Gln319Arg) NC_000003.12:41911599:T:C p.(Gln319Arg) NC_000003.12:41911599:T:C Identity +NM_001330653.3:c.3926T>C NP_001317582.1:p.Val1309Ala NC_000009.12:35399258:T:C p.(Val1309Ala) NC_000009.12:35399258:T:C p.(Val1309Ala) NC_000009.12:35399258:T:C Identity +NM_001033576.2:c.305G>A NP_001028748.1:p.Arg102His NC_000017.11:35150146:G:A p.(Arg102His) NC_000017.11:35150146:G:A p.(Arg102His) NC_000017.11:35150146:G:A Identity +NM_173555.4:c.1418C>T NP_775826.2:p.Thr473Met NC_000010.11:70142732:G:A p.(Thr473Met) NC_000010.11:70142732:G:A p.(Thr473Met) NC_000010.11:70142732:G:A Identity +NM_016172.3:c.782C>T NP_057256.2:p.Ala261Val NC_000009.12:135945121:G:A p.(Ala261Val) NC_000009.12:135945121:G:A p.(Ala261Val) NC_000009.12:135945121:G:A Identity +NM_020765.3:c.6397G>T NP_065816.2:p.Ala2133Ser NC_000001.11:19154978:C:A p.(Ala2133Ser) NC_000001.11:19154978:C:A p.(Ala2133Ser) NC_000001.11:19154978:C:A Identity +NM_001282189.2:c.491G>C NP_001269118.1:p.Gly164Ala NC_000008.11:30763303:G:C p.(Gly164Ala) NC_000008.11:30763303:G:C p.(Gly164Ala) NC_000008.11:30763303:G:C Identity +NM_021027.3:c.559C>T NP_066307.1:p.Leu187Phe NC_000002.12:233672492:C:T p.(Leu187Phe) NC_000002.12:233672492:C:T p.(Leu187Phe) NC_000002.12:233672492:C:T Identity +NM_053039.2:c.1216A>C NP_444267.1:p.Met406Leu NC_000004.12:69290716:A:C p.(Met406Leu) NC_000004.12:69290716:A:C p.(Met406Leu) NC_000004.12:69290716:A:C Identity +NM_001193388.4:c.1118C>T NP_001180317.2:p.Pro373Leu NC_000016.10:1385353:G:A p.(Pro373Leu) NC_000016.10:1385353:G:A p.(Pro373Leu) NC_000016.10:1385353:G:A Identity +NM_001105577.2:c.371G>A NP_001099047.1:p.Arg124His NC_000013.11:27978256:C:T p.(Arg124His) NC_000013.11:27978256:C:T p.(Arg124His) NC_000013.11:27978256:C:T Identity +NM_145053.5:c.1138A>T NP_659490.4:p.Ile380Leu NC_000011.10:5515303:T:A p.(Ile380Leu) NC_000011.10:5515303:T:A p.(Ile380Leu) NC_000011.10:5515303:T:A Identity +NM_152376.5:c.743G>A NP_689589.1:p.Arg248Lys NC_000001.11:20191303:G:A p.(Arg248Lys) NC_000001.11:20191303:G:A p.(Arg248Lys) NC_000001.11:20191303:G:A Identity +NM_001171091.2:c.260G>A NP_001164562.1:p.Cys87Tyr NC_000019.10:4452385:C:T p.(Cys87Tyr) NC_000019.10:4452385:C:T p.(Cys87Tyr) NC_000019.10:4452385:C:T Identity +NM_001077.4:c.122C>T NP_001068.1:p.Thr41Ile NC_000004.12:68568362:G:A p.(Thr41Ile) NC_000004.12:68568362:G:A p.(Thr41Ile) NC_000004.12:68568362:G:A Identity +NM_001080533.3:c.7G>T NP_001074002.1:p.Gly3Trp NC_000012.12:120710480:G:T p.(Gly3Trp) NC_000012.12:120710480:G:T p.(Gly3Trp) NC_000012.12:120710480:G:T Identity +NM_001033576.2:c.2666T>C NP_001028748.1:p.Leu889Pro NC_000017.11:35186434:T:C p.(Leu889Pro) NC_000017.11:35186434:T:C p.(Leu889Pro) NC_000017.11:35186434:T:C Identity +NM_001184.4:c.4279A>G NP_001175.2:p.Ile1427Val NC_000003.12:142519771:T:C p.(Ile1427Val) NC_000003.12:142519771:T:C p.(Ile1427Val) NC_000003.12:142519771:T:C Identity +NM_001080419.3:c.1198G>A NP_001073888.2:p.Val400Ile NC_000017.11:75817418:G:A p.(Val400Ile) NC_000017.11:75817418:G:A p.(Val400Ile) NC_000017.11:75817418:G:A Identity +NM_004205.5:c.557A>C NP_004196.4:p.Tyr186Ser NC_000011.10:119372923:T:G p.(Tyr186Ser) NC_000011.10:119372923:T:G p.(Tyr186Ser) NC_000011.10:119372923:T:G Identity +NM_001008563.5:c.898C>T NP_001008563.2:p.Arg300Cys NC_000009.12:129868211:C:T p.(Arg300Cys) NC_000009.12:129868211:C:T p.(Arg300Cys) NC_000009.12:129868211:C:T Identity +NM_001004416.3:c.1528G>A NP_001004416.3:p.Glu510Lys NC_000021.9:42109569:G:A p.(Glu510Lys) NC_000021.9:42109569:G:A p.(Glu510Lys) NC_000021.9:42109569:G:A Identity +NM_001080534.3:c.6175G>A NP_001074003.1:p.Gly2059Arg NC_000015.10:54622394:G:A p.(Gly2059Arg) NC_000015.10:54622394:G:A p.(Gly2059Arg) NC_000015.10:54622394:G:A Identity +NM_018467.4:c.752T>G NP_060937.2:p.Phe251Cys NC_000019.10:17219784:T:G p.(Phe251Cys) NC_000019.10:17219784:T:G p.(Phe251Cys) NC_000019.10:17219784:T:G Identity +NM_001184.4:c.5972C>T NP_001175.2:p.Pro1991Leu NC_000003.12:142493237:G:A p.(Pro1991Leu) NC_000003.12:142493237:G:A p.(Pro1991Leu) NC_000003.12:142493237:G:A Identity +NM_014825.3:c.3818A>G NP_055640.2:p.His1273Arg NC_000021.9:32347005:T:C p.(His1273Arg) NC_000021.9:32347005:T:C p.(His1273Arg) NC_000021.9:32347005:T:C Identity +NM_206933.4:c.12661A>G NP_996816.3:p.Asn4221Asp NC_000001.11:215675249:T:C p.(Asn4221Asp) NC_000001.11:215675249:T:C p.(Asn4221Asp) NC_000001.11:215675249:T:C Identity +NM_001371072.1:c.1618G>A NP_001358001.1:p.Gly540Ser NC_000023.11:47243429:G:A p.(Gly540Ser) NC_000023.11:47243429:G:A p.(Gly540Ser) NC_000023.11:47243429:G:A Identity +NM_001008563.5:c.1504G>T NP_001008563.2:p.Ala502Ser NC_000009.12:129869782:G:T p.(Ala502Ser) NC_000009.12:129869782:G:T p.(Ala502Ser) NC_000009.12:129869782:G:T Identity +NM_032582.4:c.4320G>T NP_115971.2:p.Glu1440Asp NC_000017.11:60181551:C:A p.(Glu1440Asp) NC_000017.11:60181551:C:A p.(Glu1440Asp) NC_000017.11:60181551:C:A Identity +NM_001184.4:c.1668A>T NP_001175.2:p.Lys556Asn NC_000003.12:142559314:T:A p.(Lys556Asn) NC_000003.12:142559314:T:A p.(Lys556Asn) NC_000003.12:142559314:T:A Identity +NM_001365764.1:c.1628G>A NP_001352693.1:p.Ser543Asn NC_000007.14:6149823:G:A p.(Ser543Asn) NC_000007.14:6149823:G:A p.(Ser543Asn) NC_000007.14:6149823:G:A Identity +NM_001080481.3:c.496A>T NP_001073950.1:p.Met166Leu NC_000006.12:99488802:T:A p.(Met166Leu) NC_000006.12:99488802:T:A p.(Met166Leu) NC_000006.12:99488802:T:A Identity +NM_016001.3:c.406C>T NP_057085.2:p.Pro136Ser NC_000017.11:51263336:C:T p.(Pro136Ser) NC_000017.11:51263336:C:T p.(Pro136Ser) NC_000017.11:51263336:C:T Identity +NM_014503.3:c.2186A>G NP_055318.2:p.Tyr729Cys NC_000012.12:101309793:A:G p.(Tyr729Cys) NC_000012.12:101309793:A:G p.(Tyr729Cys) NC_000012.12:101309793:A:G Identity +NM_007124.3:c.3484G>A NP_009055.2:p.Glu1162Lys NC_000006.12:144479958:G:A p.(Glu1162Lys) NC_000006.12:144479958:G:A p.(Glu1162Lys) NC_000006.12:144479958:G:A Identity +NM_015306.3:c.6336G>C NP_056121.2:p.Met2112Ile NC_000001.11:55093954:C:G p.(Met2112Ile) NC_000001.11:55093954:C:G p.(Met2112Ile) NC_000001.11:55093954:C:G Identity +NM_020935.3:c.250A>C NP_065986.3:p.Ile84Leu NC_000002.12:218553630:T:G p.(Ile84Leu) NC_000002.12:218553630:T:G p.(Ile84Leu) NC_000002.12:218553630:T:G Identity +NM_015306.3:c.4895A>G NP_056121.2:p.Asn1632Ser NC_000001.11:55104005:T:C p.(Asn1632Ser) NC_000001.11:55104005:T:C p.(Asn1632Ser) NC_000001.11:55104005:T:C Identity +NM_001184.4:c.5997T>A NP_001175.2:p.His1999Gln NC_000003.12:142493212:A:T p.(His1999Gln) NC_000003.12:142493212:A:T p.(His1999Gln) NC_000003.12:142493212:A:T Identity +NM_014709.4:c.5671T>G NP_055524.3:p.Cys1891Gly NC_000002.12:61265503:A:C p.(Cys1891Gly) NC_000002.12:61265503:A:C p.(Cys1891Gly) NC_000002.12:61265503:A:C Identity +NM_014709.4:c.3736G>A NP_055524.3:p.Glu1246Lys NC_000002.12:61311620:C:T p.(Glu1246Lys) NC_000002.12:61311620:C:T p.(Glu1246Lys) NC_000002.12:61311620:C:T Identity +NM_001290325.1:c.2533G>A NP_001277254.1:p.Val845Ile NC_000004.12:143214508:G:A p.(Val845Ile) NC_000004.12:143214508:G:A p.(Val845Ile) NC_000004.12:143214508:G:A Identity +NM_014909.5:c.583A>G NP_055724.1:p.Thr195Ala NC_000014.9:76775943:A:G p.(Thr195Ala) NC_000014.9:76775943:A:G p.(Thr195Ala) NC_000014.9:76775943:A:G Identity +NM_001320437.2:c.446A>G NP_001307366.1:p.His149Arg NC_000010.11:73543060:T:C p.(His149Arg) NC_000010.11:73543060:T:C p.(His149Arg) NC_000010.11:73543060:T:C Identity +NM_014503.3:c.7549G>A NP_055318.2:p.Ala2517Thr NC_000012.12:101379522:G:A p.(Ala2517Thr) NC_000012.12:101379522:G:A p.(Ala2517Thr) NC_000012.12:101379522:G:A Identity +NM_001177969.2:c.797G>A NP_001171440.1:p.Ser266Asn NC_000002.12:36775061:G:A p.(Ser266Asn) NC_000002.12:36775061:G:A p.(Ser266Asn) NC_000002.12:36775061:G:A Identity +NM_004666.3:c.609T>G NP_004657.2:p.Phe203Leu NC_000006.12:132693240:A:C p.(Phe203Leu) NC_000006.12:132693240:A:C p.(Phe203Leu) NC_000006.12:132693240:A:C Identity +NM_004665.6:c.910G>A NP_004656.3:p.Val304Met NC_000006.12:132751434:C:T p.(Val304Met) NC_000006.12:132751434:C:T p.(Val304Met) NC_000006.12:132751434:C:T Identity +NM_001242350.3:c.7A>G NP_001229279.2:p.Thr3Ala NC_000006.12:132757876:T:C p.(Thr3Ala) NC_000006.12:132757876:T:C p.(Thr3Ala) NC_000006.12:132757876:T:C Identity +NM_016208.4:c.331A>G NP_057292.1:p.Lys111Glu NC_000008.11:144424788:T:C p.(Lys111Glu) NC_000008.11:144424788:T:C p.(Lys111Glu) NC_000008.11:144424788:T:C Identity +NM_001077621.2:c.613C>G NP_001071089.1:p.Arg205Gly NC_000007.14:73671232:C:G p.(Arg205Gly) NC_000007.14:73671232:C:G p.(Arg205Gly) NC_000007.14:73671232:C:G Identity +NM_013245.3:c.1219A>G NP_037377.1:p.Met407Val NC_000016.10:69324213:A:G p.(Met407Val) NC_000016.10:69324213:A:G p.(Met407Val) NC_000016.10:69324213:A:G Identity +NM_001001888.4:c.287G>C NP_001001888.3:p.Ser96Thr NC_000023.11:8465928:G:C p.(Ser96Thr) NC_000023.11:8465928:G:C p.(Ser96Thr) NC_000023.11:8465928:G:C Identity +NM_001370264.1:c.1324C>T NP_001357193.1:p.Pro442Ser NC_000003.12:38004282:C:T p.(Pro442Ser) NC_000003.12:38004282:C:T p.(Pro442Ser) NC_000003.12:38004282:C:T Identity +NM_001163922.3:c.2299C>G NP_001157394.1:p.Arg767Gly NC_000019.10:51337243:G:C p.(Arg767Gly) NC_000019.10:51337243:G:C p.(Arg767Gly) NC_000019.10:51337243:G:C Identity +NM_003381.4:c.441G>C NP_003372.1:p.Leu147Phe NC_000006.12:152756238:G:C p.(Leu147Phe) NC_000006.12:152756238:G:C p.(Leu147Phe) NC_000006.12:152756238:G:C Identity +NM_001018037.2:c.5573G>A NP_001018047.1:p.Ser1858Asn NC_000009.12:77321605:G:A p.(Ser1858Asn) NC_000009.12:77321605:G:A p.(Ser1858Asn) NC_000009.12:77321605:G:A Identity +NM_001351018.2:c.1715A>G NP_001337947.1:p.Asn572Ser NC_000012.12:122232288:T:C p.(Asn572Ser) NC_000012.12:122232288:T:C p.(Asn572Ser) NC_000012.12:122232288:T:C Identity +NM_018206.6:c.1405C>G NP_060676.2:p.Gln469Glu NC_000016.10:46671823:G:C p.(Gln469Glu) NC_000016.10:46671823:G:C p.(Gln469Glu) NC_000016.10:46671823:G:C Identity +NM_017890.5:c.4780A>C NP_060360.3:p.Asn1594His NC_000008.11:99520969:A:C p.(Asn1594His) NC_000008.11:99520969:A:C p.(Asn1594His) NC_000008.11:99520969:A:C Identity +NM_001330499.2:c.590T>C NP_001317428.1:p.Met197Thr NC_000017.11:75846914:A:G p.(Met197Thr) NC_000017.11:75846914:A:G p.(Met197Thr) NC_000017.11:75846914:A:G Identity +NM_001350727.2:c.38G>A NP_001337656.1:p.Gly13Glu NC_000004.12:176111617:G:A p.(Gly13Glu) NC_000004.12:176111617:G:A p.(Gly13Glu) NC_000004.12:176111617:G:A Identity +NM_001005739.2:c.357T>G NP_001005739.1:p.His119Gln NC_000002.12:63972229:A:C p.(His119Gln) NC_000002.12:63972229:A:C p.(His119Gln) NC_000002.12:63972229:A:C Identity +NM_001009921.3:c.4202C>T NP_001009921.1:p.Ser1401Leu NC_000003.12:185051939:C:T p.(Ser1401Leu) NC_000003.12:185051939:C:T p.(Ser1401Leu) NC_000003.12:185051939:C:T Identity +NM_001184830.2:c.584C>A NP_001171759.1:p.Thr195Asn NC_000023.11:66032577:G:T p.(Thr195Asn) NC_000023.11:66032577:G:T p.(Thr195Asn) NC_000023.11:66032577:G:T Identity +NM_001320373.3:c.2420C>T NP_001307302.1:p.Pro807Leu NC_000003.12:184241297:C:T p.(Pro807Leu) NC_000003.12:184241297:C:T p.(Pro807Leu) NC_000003.12:184241297:C:T Identity +NM_001202550.2:c.1551A>G NP_001189479.1:p.Ile517Met NC_000006.12:169636441:T:C p.(Ile517Met) NC_000006.12:169636441:T:C p.(Ile517Met) NC_000006.12:169636441:T:C Identity +NM_001367482.1:c.114T>G NP_001354411.1:p.Asp38Glu NC_000001.11:241652597:T:G p.(Asp38Glu) NC_000001.11:241652597:T:G p.(Asp38Glu) NC_000001.11:241652597:T:G Identity +NM_001317924.2:c.2945A>C NP_001304853.1:p.Lys982Thr NC_000004.12:39270041:A:C p.(Lys982Thr) NC_000004.12:39270041:A:C p.(Lys982Thr) NC_000004.12:39270041:A:C Identity +NM_016628.5:c.793T>C NP_057712.2:p.Ser265Pro NC_000010.11:28595914:T:C p.(Ser265Pro) NC_000010.11:28595914:T:C p.(Ser265Pro) NC_000010.11:28595914:T:C Identity +NM_207303.4:c.2446A>G NP_997186.1:p.Ile816Val NC_000010.11:115300063:A:G p.(Ile816Val) NC_000010.11:115300063:A:G p.(Ile816Val) NC_000010.11:115300063:A:G Identity +NM_001370153.1:c.4291C>T NP_001357082.1:p.Leu1431Phe NC_000010.11:48796330:C:T p.(Leu1431Phe) NC_000010.11:48796330:C:T p.(Leu1431Phe) NC_000010.11:48796330:C:T Identity +NM_001350727.2:c.241G>A NP_001337656.1:p.Asp81Asn NC_000004.12:176115912:G:A p.(Asp81Asn) NC_000004.12:176115912:G:A p.(Asp81Asn) NC_000004.12:176115912:G:A Identity +NM_001350727.2:c.1421G>A NP_001337656.1:p.Arg474Gln NC_000004.12:176137600:G:A p.(Arg474Gln) NC_000004.12:176137600:G:A p.(Arg474Gln) NC_000004.12:176137600:G:A Identity +NM_025132.4:c.241C>T NP_079408.3:p.Leu81Phe NC_000004.12:39189731:C:T p.(Leu81Phe) NC_000004.12:39189731:C:T p.(Leu81Phe) NC_000004.12:39189731:C:T Identity +NM_145294.5:c.1309C>T NP_660337.3:p.Leu437Phe NC_000016.10:653599:C:T p.(Leu437Phe) NC_000016.10:653599:C:T p.(Leu437Phe) NC_000016.10:653599:C:T Identity +NM_001105558.1:c.110C>T NP_001099028.1:p.Ser37Leu NC_000007.14:141708867:C:T p.(Ser37Leu) NC_000007.14:141708867:C:T p.(Ser37Leu) NC_000007.14:141708867:C:T Identity +NM_080614.2:c.23T>G NP_542181.1:p.Leu8Arg NC_000020.11:45789952:A:C p.(Leu8Arg) NC_000020.11:45789952:A:C p.(Leu8Arg) NC_000020.11:45789952:A:C Identity +NM_001033518.2:c.206A>C NP_001028690.1:p.Glu69Ala NC_000007.14:5199652:A:C p.(Glu69Ala) NC_000007.14:5199652:A:C p.(Glu69Ala) NC_000007.14:5199652:A:C Identity +NM_001282394.3:c.1703C>T NP_001269323.1:p.Pro568Leu NC_000009.12:93247702:C:T p.(Pro568Leu) NC_000009.12:93247702:C:T p.(Pro568Leu) NC_000009.12:93247702:C:T Identity +NM_001161476.3:c.875C>G NP_001154948.1:p.Thr292Arg NC_000014.9:100468072:C:G p.(Thr292Arg) NC_000014.9:100468072:C:G p.(Thr292Arg) NC_000014.9:100468072:C:G Identity +NM_001271885.2:c.140C>G NP_001258814.1:p.Ser47Cys NC_000015.10:67231881:G:C p.(Ser47Cys) NC_000015.10:67231881:G:C p.(Ser47Cys) NC_000015.10:67231881:G:C Identity +NM_001006657.2:c.3229G>T NP_001006658.1:p.Ala1077Ser NC_000002.12:19914202:C:A p.(Ala1077Ser) NC_000002.12:19914202:C:A p.(Ala1077Ser) NC_000002.12:19914202:C:A Identity +NM_001320546.3:c.2927G>A NP_001307475.1:p.Ser976Asn NC_000003.12:49014926:G:A p.(Ser976Asn) NC_000003.12:49014926:G:A p.(Ser976Asn) NC_000003.12:49014926:G:A Identity +NM_001137675.4:c.1526C>T NP_001131147.1:p.Thr509Met NC_000016.10:71851265:C:T p.(Thr509Met) NC_000016.10:71851265:C:T p.(Thr509Met) NC_000016.10:71851265:C:T Identity +NM_145294.5:c.3868C>G NP_660337.3:p.Arg1290Gly NC_000016.10:661893:C:G p.(Arg1290Gly) NC_000016.10:661893:C:G p.(Arg1290Gly) NC_000016.10:661893:C:G Identity +NM_145294.5:c.3986G>A NP_660337.3:p.Arg1329His NC_000016.10:662011:G:A p.(Arg1329His) NC_000016.10:662011:G:A p.(Arg1329His) NC_000016.10:662011:G:A Identity +NM_001308230.2:c.175C>G NP_001295159.1:p.Leu59Val NC_000016.10:28823433:C:G p.(Leu59Val) NC_000016.10:28823433:C:G p.(Leu59Val) NC_000016.10:28823433:C:G Identity +NM_001291088.2:c.1411C>T NP_001278017.1:p.Arg471Trp NC_000019.10:37894291:G:A p.(Arg471Trp) NC_000019.10:37894291:G:A p.(Arg471Trp) NC_000019.10:37894291:G:A Identity +NM_001291088.2:c.100T>C NP_001278017.1:p.Cys34Arg NC_000019.10:37896283:A:G p.(Cys34Arg) NC_000019.10:37896283:A:G p.(Cys34Arg) NC_000019.10:37896283:A:G Identity +NM_001002292.4:c.502C>T NP_001002292.3:p.Pro168Ser NC_000001.11:68155256:G:A p.(Pro168Ser) NC_000001.11:68155256:G:A p.(Pro168Ser) NC_000001.11:68155256:G:A Identity +NM_001388405.1:c.611G>A NP_001375334.1:p.Ser204Asn NC_000017.11:6090388:G:A p.(Ser204Asn) NC_000017.11:6090388:G:A p.(Ser204Asn) NC_000017.11:6090388:G:A Identity +NM_139076.3:c.283A>G NP_620775.2:p.Asn95Asp NC_000004.12:83470395:T:C p.(Asn95Asp) NC_000004.12:83470395:T:C p.(Asn95Asp) NC_000004.12:83470395:T:C Identity +NM_020196.3:c.716A>G NP_064581.2:p.Asn239Ser NC_000019.10:7625985:T:C p.(Asn239Ser) NC_000019.10:7625985:T:C p.(Asn239Ser) NC_000019.10:7625985:T:C Identity +NM_001256105.1:c.784C>T NP_001243034.1:p.Arg262Trp NC_000003.12:55470405:G:A p.(Arg262Trp) NC_000003.12:55470405:G:A p.(Arg262Trp) NC_000003.12:55470405:G:A Identity +NM_000379.4:c.3278C>A NP_000370.2:p.Ala1093Glu NC_000002.12:31346841:G:T p.(Ala1093Glu) NC_000002.12:31346841:G:T p.(Ala1093Glu) NC_000002.12:31346841:G:T Identity +NM_001351377.2:c.910G>T NP_001338306.1:p.Ala304Ser NC_000003.12:39184584:C:A p.(Ala304Ser) NC_000003.12:39184584:C:A p.(Ala304Ser) NC_000003.12:39184584:C:A Identity +NM_005433.4:c.1289A>G NP_005424.1:p.Gln430Arg NC_000018.10:736809:T:C p.(Gln430Arg) NC_000018.10:736809:T:C p.(Gln430Arg) NC_000018.10:736809:T:C Identity +NM_022098.4:c.596C>T NP_071381.1:p.Thr199Met NC_000022.11:40886318:C:T p.(Thr199Met) NC_000022.11:40886318:C:T p.(Thr199Met) NC_000022.11:40886318:C:T Identity +NM_005431.2:c.150A>C NP_005422.1:p.Glu50Asp NC_000007.14:152649334:T:G p.(Glu50Asp) NC_000007.14:152649334:T:G p.(Glu50Asp) NC_000007.14:152649334:T:G Identity +NM_020192.5:c.535G>A NP_064577.1:p.Asp179Asn NC_000007.14:39572559:G:A p.(Asp179Asn) NC_000007.14:39572559:G:A p.(Asp179Asn) NC_000007.14:39572559:G:A Identity +NM_001300861.2:c.187G>A NP_001287790.1:p.Ala63Thr NC_000011.10:66288136:C:T p.(Ala63Thr) NC_000011.10:66288136:C:T p.(Ala63Thr) NC_000011.10:66288136:C:T Identity +NM_001127231.3:c.2383G>T NP_001120703.1:p.Ala795Ser NC_000007.14:70787354:G:T p.(Ala795Ser) NC_000007.14:70787354:G:T p.(Ala795Ser) NC_000007.14:70787354:G:T Identity +NM_180990.4:c.6G>A NP_851321.2:p.Met2Ile NC_000017.11:76079269:G:A p.(Met2Ile) NC_000017.11:76079269:G:A p.(Met2Ile) NC_000017.11:76079269:G:A Identity +NM_001199201.2:c.1064C>T NP_001186130.1:p.Ser355Phe NC_000003.12:167317516:G:A p.(Ser355Phe) NC_000003.12:167317516:G:A p.(Ser355Phe) NC_000003.12:167317516:G:A Identity +NM_001411052.1:c.503C>T NP_001397981.1:p.Pro168Leu NC_000014.9:74763991:C:T p.(Pro168Leu) NC_000014.9:74763991:C:T p.(Pro168Leu) NC_000014.9:74763991:C:T Identity +NM_001127231.3:c.725C>T NP_001120703.1:p.Thr242Ile NC_000007.14:70698602:C:T p.(Thr242Ile) NC_000007.14:70698602:C:T p.(Thr242Ile) NC_000007.14:70698602:C:T Identity +NM_175619.3:c.479T>A NP_783318.1:p.Leu160Gln NC_000004.12:48490769:T:A p.(Leu160Gln) NC_000004.12:48490769:T:A p.(Leu160Gln) NC_000004.12:48490769:T:A Identity +NM_001174108.2:c.1180G>C NP_001167579.1:p.Ala394Pro NC_000001.11:203798701:G:C p.(Ala394Pro) NC_000001.11:203798701:G:C p.(Ala394Pro) NC_000001.11:203798701:G:C Identity +NM_206923.4:c.504G>C NP_996806.2:p.Lys168Asn NC_000023.11:21856987:G:C p.(Lys168Asn) NC_000023.11:21856987:G:C p.(Lys168Asn) NC_000023.11:21856987:G:C Identity +NM_001172411.2:c.320G>A NP_001165882.1:p.Arg107His NC_000001.11:115663781:G:A p.(Arg107His) NC_000001.11:115663781:G:A p.(Arg107His) NC_000001.11:115663781:G:A Identity +NM_020335.3:c.310T>C NP_065068.1:p.Ser104Pro NC_000001.11:160419118:T:C p.(Ser104Pro) NC_000001.11:160419118:T:C p.(Ser104Pro) NC_000001.11:160419118:T:C Identity +NM_014909.5:c.844G>T NP_055724.1:p.Val282Leu NC_000014.9:76776204:G:T p.(Val282Leu) NC_000014.9:76776204:G:T p.(Val282Leu) NC_000014.9:76776204:G:T Identity +NM_138440.3:c.1495C>T NP_612449.2:p.Arg499Cys NC_000016.10:4382371:C:T p.(Arg499Cys) NC_000016.10:4382371:C:T p.(Arg499Cys) NC_000016.10:4382371:C:T Identity +NM_001001888.4:c.323G>A NP_001001888.3:p.Ser108Asn NC_000023.11:8465964:G:A p.(Ser108Asn) NC_000023.11:8465964:G:A p.(Ser108Asn) NC_000023.11:8465964:G:A Identity +NM_001184.4:c.1230G>T NP_001175.2:p.Glu410Asp NC_000003.12:142561361:C:A p.(Glu410Asp) NC_000003.12:142561361:C:A p.(Glu410Asp) NC_000003.12:142561361:C:A Identity +NM_015168.2:c.2635G>A NP_055983.1:p.Gly879Arg NC_000019.10:47067632:C:T p.(Gly879Arg) NC_000019.10:47067632:C:T p.(Gly879Arg) NC_000019.10:47067632:C:T Identity +NM_001013579.3:c.916C>G NP_001013597.1:p.Leu306Val NC_000023.11:70240218:C:G p.(Leu306Val) NC_000023.11:70240218:C:G p.(Leu306Val) NC_000023.11:70240218:C:G Identity +NM_001365381.2:c.340G>C NP_001352310.1:p.Gly114Arg NC_000007.14:1153073:C:G p.(Gly114Arg) NC_000007.14:1153073:C:G p.(Gly114Arg) NC_000007.14:1153073:C:G Identity +NM_001029939.4:c.2815A>G NP_001025110.2:p.Thr939Ala NC_000008.11:134583867:T:C p.(Thr939Ala) NC_000008.11:134583867:T:C p.(Thr939Ala) NC_000008.11:134583867:T:C Identity +NM_001282515.2:c.1787C>A NP_001269444.1:p.Ala596Asp NC_000009.12:113042875:G:T p.(Ala596Asp) NC_000009.12:113042875:G:T p.(Ala596Asp) NC_000009.12:113042875:G:T Identity +NM_153813.3:c.1694C>T NP_722520.2:p.Ala565Val NC_000016.10:88533651:C:T p.(Ala565Val) NC_000016.10:88533651:C:T p.(Ala565Val) NC_000016.10:88533651:C:T Identity +NM_033400.3:c.7058C>T NP_207646.2:p.Ala2353Val NC_000014.9:23522622:G:A p.(Ala2353Val) NC_000014.9:23522622:G:A p.(Ala2353Val) NC_000014.9:23522622:G:A Identity +NM_153018.3:c.106C>T NP_694563.1:p.His36Tyr NC_000017.11:5091609:C:T p.(His36Tyr) NC_000017.11:5091609:C:T p.(His36Tyr) NC_000017.11:5091609:C:T Identity +NM_001320666.3:c.74C>T NP_001307595.1:p.Ser25Leu NC_000019.10:37644671:G:A p.(Ser25Leu) NC_000019.10:37644671:G:A p.(Ser25Leu) NC_000019.10:37644671:G:A Identity +NM_001109809.5:c.1565A>G NP_001103279.2:p.Lys522Arg NC_000006.12:29672545:T:C p.(Lys522Arg) NC_000006.12:29672545:T:C p.(Lys522Arg) NC_000006.12:29672545:T:C Identity +NM_015346.4:c.1792G>A NP_056161.2:p.Asp598Asn NC_000014.9:67798469:C:T p.(Asp598Asn) NC_000014.9:67798469:C:T p.(Asp598Asn) NC_000014.9:67798469:C:T Identity +NM_001350397.2:c.1760A>T NP_001337326.1:p.Glu587Val NC_000004.12:112618281:T:A p.(Glu587Val) NC_000004.12:112618281:T:A p.(Glu587Val) NC_000004.12:112618281:T:A Identity +NM_001077268.2:c.538C>T NP_001070736.1:p.Arg180Cys NC_000015.10:40809936:C:T p.(Arg180Cys) NC_000015.10:40809936:C:T p.(Arg180Cys) NC_000015.10:40809936:C:T Identity +NM_033132.5:c.1193C>A NP_149123.3:p.Pro398Gln NC_000013.11:99970410:G:T p.(Pro398Gln) NC_000013.11:99970410:G:T p.(Pro398Gln) NC_000013.11:99970410:G:T Identity +NM_001105251.4:c.62A>G NP_001098721.2:p.Gln21Arg NC_000005.10:80434208:A:G p.(Gln21Arg) NC_000005.10:80434208:A:G p.(Gln21Arg) NC_000005.10:80434208:A:G Identity +NM_001083113.2:c.1055A>G NP_001076582.1:p.Lys352Arg NC_000020.11:63735221:A:G p.(Lys352Arg) NC_000020.11:63735221:A:G p.(Lys352Arg) NC_000020.11:63735221:A:G Identity +NM_007129.5:c.498C>G NP_009060.2:p.His166Gln NC_000013.11:99982561:C:G p.(His166Gln) NC_000013.11:99982561:C:G p.(His166Gln) NC_000013.11:99982561:C:G Identity +NM_001289088.2:c.2951C>T NP_001276017.1:p.Ser984Leu NC_000001.11:35114780:C:T p.(Ser984Leu) NC_000001.11:35114780:C:T p.(Ser984Leu) NC_000001.11:35114780:C:T Identity +NM_024666.5:c.115A>T NP_078942.3:p.Asn39Tyr NC_000015.10:67236778:T:A p.(Asn39Tyr) NC_000015.10:67236778:T:A p.(Asn39Tyr) NC_000015.10:67236778:T:A Identity +NM_003433.4:c.1098G>C NP_003424.3:p.Glu366Asp NC_000019.10:58434345:C:G p.(Glu366Asp) NC_000019.10:58434345:C:G p.(Glu366Asp) NC_000019.10:58434345:C:G Identity +NM_003433.4:c.1963T>C NP_003424.3:p.Tyr655His NC_000019.10:58433480:A:G p.(Tyr655His) NC_000019.10:58433480:A:G p.(Tyr655His) NC_000019.10:58433480:A:G Identity +NM_015394.5:c.896G>C NP_056209.2:p.Gly299Ala NC_000012.12:133156141:G:C p.(Gly299Ala) NC_000012.12:133156141:G:C p.(Gly299Ala) NC_000012.12:133156141:G:C Identity +NM_001083330.4:c.769G>A NP_001076799.2:p.Ala257Thr NC_000020.11:18315622:G:A p.(Ala257Thr) NC_000020.11:18315622:G:A p.(Ala257Thr) NC_000020.11:18315622:G:A Identity +NM_001348277.2:c.163A>C NP_001335206.1:p.Asn55His NC_000004.12:372827:A:C p.(Asn55His) NC_000004.12:372827:A:C p.(Asn55His) NC_000004.12:372827:A:C Identity +NM_015394.5:c.290T>C NP_056209.2:p.Val97Ala NC_000012.12:133155535:T:C p.(Val97Ala) NC_000012.12:133155535:T:C p.(Val97Ala) NC_000012.12:133155535:T:C Identity +NM_001348050.2:c.1220G>A NP_001334979.1:p.Cys407Tyr NC_000007.14:64978350:C:T p.(Cys407Tyr) NC_000007.14:64978350:C:T p.(Cys407Tyr) NC_000007.14:64978350:C:T Identity +NM_003435.5:c.599G>A NP_003426.3:p.Gly200Glu NC_000019.10:57620717:G:A p.(Gly200Glu) NC_000019.10:57620717:G:A p.(Gly200Glu) NC_000019.10:57620717:G:A Identity +NM_001029976.3:c.52C>T NP_001025147.2:p.Pro18Ser NC_000008.11:144946154:G:A p.(Pro18Ser) NC_000008.11:144946154:G:A p.(Pro18Ser) NC_000008.11:144946154:G:A Identity +NM_001278231.2:c.851G>T NP_001265160.1:p.Ser284Ile NC_000009.12:101408660:G:T p.(Ser284Ile) NC_000009.12:101408660:G:T p.(Ser284Ile) NC_000009.12:101408660:G:T Identity +NM_001323293.2:c.2438C>T NP_001310222.1:p.Thr813Met NC_000003.12:44643567:C:T p.(Thr813Met) NC_000003.12:44643567:C:T p.(Thr813Met) NC_000003.12:44643567:C:T Identity +NM_012256.4:c.442G>A NP_036388.2:p.Val148Ile NC_000007.14:149250707:G:A p.(Val148Ile) NC_000007.14:149250707:G:A p.(Val148Ile) NC_000007.14:149250707:G:A Identity +NM_001101672.2:c.454C>A NP_001095142.1:p.Leu152Met NC_000014.9:21092842:G:T p.(Leu152Met) NC_000014.9:21092842:G:T p.(Leu152Met) NC_000014.9:21092842:G:T Identity +NM_006963.5:c.131G>C NP_008894.2:p.Ser44Thr NC_000010.11:45003498:G:C p.(Ser44Thr) NC_000010.11:45003498:G:C p.(Ser44Thr) NC_000010.11:45003498:G:C Identity +NM_001321685.2:c.931A>G NP_001308614.1:p.Met311Val NC_000019.10:44131544:A:G p.(Met311Val) NC_000019.10:44131544:A:G p.(Met311Val) NC_000019.10:44131544:A:G Identity +NM_001267597.2:c.884A>G NP_001254526.1:p.Asn295Ser NC_000010.11:37832470:T:C p.(Asn295Ser) NC_000010.11:37832470:T:C p.(Asn295Ser) NC_000010.11:37832470:T:C Identity +NM_001018037.2:c.7571A>C NP_001018047.1:p.Lys2524Thr NC_000009.12:77356748:A:C p.(Lys2524Thr) NC_000009.12:77356748:A:C p.(Lys2524Thr) NC_000009.12:77356748:A:C Identity +NM_001257998.2:c.1388G>A NP_001244927.1:p.Arg463His NC_000007.14:93305852:G:A p.(Arg463His) NC_000007.14:93305852:G:A p.(Arg463His) NC_000007.14:93305852:G:A Identity +NM_007153.3:c.2756G>A NP_009084.2:p.Cys919Tyr NC_000019.10:21972277:C:T p.(Cys919Tyr) NC_000019.10:21972277:C:T p.(Cys919Tyr) NC_000019.10:21972277:C:T Identity +NM_138367.2:c.376G>T NP_612376.1:p.Asp126Tyr NC_000008.11:144723283:C:A p.(Asp126Tyr) NC_000008.11:144723283:C:A p.(Asp126Tyr) NC_000008.11:144723283:C:A Identity +NM_145288.3:c.575C>G NP_660331.1:p.Pro192Arg NC_000019.10:45072453:G:C p.(Pro192Arg) NC_000019.10:45072453:G:C p.(Pro192Arg) NC_000019.10:45072453:G:C Identity +NM_001291488.2:c.563A>G NP_001278417.1:p.His188Arg NC_000019.10:44387702:T:C p.(His188Arg) NC_000019.10:44387702:T:C p.(His188Arg) NC_000019.10:44387702:T:C Identity +NM_001384365.1:c.1264G>A NP_001371294.1:p.Gly422Ser NC_000016.10:57997001:C:T p.(Gly422Ser) NC_000016.10:57997001:C:T p.(Gly422Ser) NC_000016.10:57997001:C:T Identity +NM_004655.4:c.1788A>T NP_004646.3:p.Glu596Asp NC_000017.11:65536987:T:A p.(Glu596Asp) NC_000017.11:65536987:T:A p.(Glu596Asp) NC_000017.11:65536987:T:A Identity +NM_001278170.2:c.1562A>G NP_001265099.1:p.His521Arg NC_000010.11:38055667:A:G p.(His521Arg) NC_000010.11:38055667:A:G p.(His521Arg) NC_000010.11:38055667:A:G Identity +NM_001113397.2:c.136T>A NP_001106868.1:p.Ser46Thr NC_000002.12:179544858:A:T p.(Ser46Thr) NC_000002.12:179544858:A:T p.(Ser46Thr) NC_000002.12:179544858:A:T Identity +NM_001305033.2:c.738A>T NP_001291962.1:p.Arg246Ser NC_000010.11:42594232:T:A p.(Arg246Ser) NC_000010.11:42594232:T:A p.(Arg246Ser) NC_000010.11:42594232:T:A Identity +NM_001039920.3:c.868C>T NP_001035009.1:p.His290Tyr NC_000012.12:6669146:G:A p.(His290Tyr) NC_000012.12:6669146:G:A p.(His290Tyr) NC_000012.12:6669146:G:A Identity +NM_001135734.3:c.400G>T NP_001129206.1:p.Ala134Ser NC_000012.12:6678412:C:A p.(Ala134Ser) NC_000012.12:6678412:C:A p.(Ala134Ser) NC_000012.12:6678412:C:A Identity +NM_001317027.2:c.440C>T NP_001303956.1:p.Pro147Leu NC_000019.10:57927803:G:A p.(Pro147Leu) NC_000019.10:57927803:G:A p.(Pro147Leu) NC_000019.10:57927803:G:A Identity +NM_021632.4:c.395G>A NP_067645.3:p.Arg132His NC_000019.10:51966057:C:T p.(Arg132His) NC_000019.10:51966057:C:T p.(Arg132His) NC_000019.10:51966057:C:T Identity +NM_018660.3:c.1391T>G NP_061130.1:p.Leu464Arg NC_000008.11:28349163:A:C p.(Leu464Arg) NC_000008.11:28349163:A:C p.(Leu464Arg) NC_000008.11:28349163:A:C Identity +NM_001384475.1:c.5666C>T NP_001371404.1:p.Thr1889Met NC_000018.10:75063386:C:T p.(Thr1889Met) NC_000018.10:75063386:C:T p.(Thr1889Met) NC_000018.10:75063386:C:T Identity +NM_001143766.2:c.2098G>A NP_001137238.1:p.Asp700Asn NC_000010.11:30845349:C:T p.(Asp700Asn) NC_000010.11:30845349:C:T p.(Asp700Asn) NC_000010.11:30845349:C:T Identity +NM_152355.3:c.1541C>G NP_689568.2:p.Ser514Cys NC_000019.10:11781364:C:G p.(Ser514Cys) NC_000019.10:11781364:C:G p.(Ser514Cys) NC_000019.10:11781364:C:G Identity +NM_152355.3:c.713C>T NP_689568.2:p.Ser238Phe NC_000019.10:11780536:C:T p.(Ser238Phe) NC_000019.10:11780536:C:T p.(Ser238Phe) NC_000019.10:11780536:C:T Identity +NM_001300883.3:c.1205G>A NP_001287812.1:p.Arg402Gln NC_000019.10:9528725:C:T p.(Arg402Gln) NC_000019.10:9528725:C:T p.(Arg402Gln) NC_000019.10:9528725:C:T Identity +NM_001321837.2:c.251A>G NP_001308766.1:p.Asn84Ser NC_000008.11:60279729:T:C p.(Asn84Ser) NC_000008.11:60279729:T:C p.(Asn84Ser) NC_000008.11:60279729:T:C Identity +NM_001363813.1:c.121G>A NP_001350742.1:p.Gly41Ser NC_000017.11:65558499:C:T p.(Gly41Ser) NC_000017.11:65558499:C:T p.(Gly41Ser) NC_000017.11:65558499:C:T Identity +NM_015909.4:c.2674G>T NP_056993.2:p.Val892Phe NC_000002.12:15417615:C:A p.(Val892Phe) NC_000002.12:15417615:C:A p.(Val892Phe) NC_000002.12:15417615:C:A Identity +NM_000531.6:c.817G>A NP_000522.3:p.Glu273Lys NC_000023.11:38408974:G:A p.(Glu273Lys) NC_000023.11:38408974:G:A p.(Glu273Lys) NC_000023.11:38408974:G:A Identity +NM_014249.4:c.739C>T NP_055064.1:p.Arg247Trp NC_000015.10:71812502:C:T p.(Arg247Trp) NC_000015.10:71812502:C:T p.(Arg247Trp) NC_000015.10:71812502:C:T Identity +NM_001080463.2:c.1457T>A NP_001073932.1:p.Ile486Lys NC_000011.10:103121467:T:A p.(Ile486Lys) NC_000011.10:103121467:T:A p.(Ile486Lys) NC_000011.10:103121467:T:A Identity +NM_000237.3:c.636C>G NP_000228.1:p.Phe212Leu NC_000008.11:19954213:C:G p.(Phe212Leu) NC_000008.11:19954213:C:G p.(Phe212Leu) NC_000008.11:19954213:C:G Identity +NM_001320373.3:c.1444C>T NP_001307302.1:p.Pro482Ser NC_000003.12:184238768:C:T p.(Pro482Ser) NC_000003.12:184238768:C:T p.(Pro482Ser) NC_000003.12:184238768:C:T Identity +NM_000441.2:c.241A>G NP_000432.1:p.Lys81Glu NC_000007.14:107663371:A:G p.(Lys81Glu) NC_000007.14:107663371:A:G p.(Lys81Glu) NC_000007.14:107663371:A:G Identity +NM_000545.8:c.838A>T NP_000536.6:p.Lys280Ter NC_000012.12:120994287:A:T p.(Lys280Ter) NC_000012.12:120994287:A:T p.(Lys280Ter) NC_000012.12:120994287:A:T Identity +NM_001447.3:c.6725C>T NP_001438.1:p.Thr2242Ile NC_000005.10:151544401:G:A p.(Thr2242Ile) NC_000005.10:151544401:G:A p.(Thr2242Ile) NC_000005.10:151544401:G:A Identity +NM_001169109.2:c.661A>G NP_001162580.1:p.Ile221Val NC_000022.11:50523750:T:C p.(Ile221Val) NC_000022.11:50523750:T:C p.(Ile221Val) NC_000022.11:50523750:T:C Identity +NM_000494.4:c.3097G>A NP_000485.3:p.Gly1033Arg NC_000010.11:104037746:C:T p.(Gly1033Arg) NC_000010.11:104037746:C:T p.(Gly1033Arg) NC_000010.11:104037746:C:T Identity +NM_000492.4:c.3181G>A NP_000483.3:p.Gly1061Arg NC_000007.14:117611621:G:A p.(Gly1061Arg) NC_000007.14:117611621:G:A p.(Gly1061Arg) NC_000007.14:117611621:G:A Identity +NM_001202543.2:c.476A>C NP_001189472.1:p.Glu159Ala NC_000007.14:102104371:A:C p.(Glu159Ala) NC_000007.14:102104371:A:C p.(Glu159Ala) NC_000007.14:102104371:A:C Identity +NM_001011649.3:c.4421del NP_001011649.1:p.Gln1474fs NC_000009.12:120409309:T: p.(Gln1474ArgfsTer16) NC_000009.12:120409309:T: p.(Gln1474ArgfsTer16) NC_000009.12:120409309:T: Analogous +NM_001011649.3:c.1968G>C NP_001011649.1:p.Lys656Asn NC_000009.12:120470110:C:G p.(Lys656Asn) NC_000009.12:120470110:C:G p.(Lys656Asn) NC_000009.12:120470110:C:G Identity +NM_004992.4:c.3G>A NP_004983.1:p.Met1Ile NC_000023.11:154092206:C:T p.(Met1Ile) NC_000023.11:154092206:C:T p.Met1? NC_000023.11:154092206:C:T Identity +NM_005765.3:c.1016T>C NP_005756.2:p.Ile339Thr NC_000023.11:40605717:T:C p.(Ile339Thr) NC_000023.11:40605717:T:C p.(Ile339Thr) NC_000023.11:40605717:T:C Identity +NM_000296.4:c.1675C>G NP_000287.4:p.Pro559Ala NC_000016.10:2116575:G:C p.(Pro559Ala) NC_000016.10:2116575:G:C p.(Pro559Ala) NC_000016.10:2116575:G:C Identity +NM_001163817.2:c.903C>A NP_001157289.1:p.His301Gln NC_000011.10:71437871:G:T p.(His301Gln) NC_000011.10:71437871:G:T p.(His301Gln) NC_000011.10:71437871:G:T Identity +NM_000492.4:c.1424T>G NP_000483.3:p.Leu475Arg NC_000007.14:117559494:T:G p.(Leu475Arg) NC_000007.14:117559494:T:G p.(Leu475Arg) NC_000007.14:117559494:T:G Identity +NM_001318509.2:c.1418G>A NP_001305438.1:p.Gly473Asp NC_000023.11:109668120:C:T p.(Gly473Asp) NC_000023.11:109668120:C:T p.(Gly473Asp) NC_000023.11:109668120:C:T Identity +NM_001101.5:c.150G>C NP_001092.1:p.Lys50Asn NC_000007.14:5529373:C:G p.(Lys50Asn) NC_000007.14:5529373:C:G p.(Lys50Asn) NC_000007.14:5529373:C:G Identity +NM_001379081.2:c.2750del NP_001366010.1:p.Thr917fs NC_000009.12:14812954:G: p.(Thr917MetfsTer8) NC_000009.12:14812954:G: p.(Thr917MetfsTer8) NC_000009.12:14812954:G: Analogous +NM_001131019.3:c.424G>C NP_001124491.1:p.Asp142His NC_000017.11:44915062:C:G p.(Asp142His) NC_000017.11:44915062:C:G p.(Asp142His) NC_000017.11:44915062:C:G Identity +NM_198578.4:c.338G>T NP_940980.4:p.Gly113Val NC_000012.12:40232373:G:T p.(Gly113Val) NC_000012.12:40232373:G:T p.(Gly113Val) NC_000012.12:40232373:G:T Identity +NM_014975.3:c.452G>A NP_055790.1:p.Arg151His NC_000019.10:12847413:G:A p.(Arg151His) NC_000019.10:12847413:G:A p.(Arg151His) NC_000019.10:12847413:G:A Identity +NM_000044.6:c.2302G>T NP_000035.2:p.Asp768Tyr NC_000023.11:67717605:G:T p.(Asp768Tyr) NC_000023.11:67717605:G:T p.(Asp768Tyr) NC_000023.11:67717605:G:T Identity +NM_001282531.3:c.518G>A NP_001269460.1:p.Arg173Gln NC_000020.11:50894195:C:T p.(Arg173Gln) NC_000020.11:50894195:C:T p.(Arg173Gln) NC_000020.11:50894195:C:T Identity +NM_016239.4:c.10470del NP_057323.3:p.Leu3491fs NC_000017.11:18173898:CC:C p.(Leu3491CysfsTer63) NC_000017.11:18173898:CC:C p.(Leu3491CysfsTer63) NC_000017.11:18173899:C: Analogous +NM_001330209.2:c.2870T>C NP_001317138.1:p.Val957Ala NC_000023.11:13768778:T:C p.(Val957Ala) NC_000023.11:13768778:T:C p.(Val957Ala) NC_000023.11:13768778:T:C Identity +NM_000296.4:c.2726T>G NP_000287.4:p.Val909Gly NC_000016.10:2114296:A:C p.(Val909Gly) NC_000016.10:2114296:A:C p.(Val909Gly) NC_000016.10:2114296:A:C Identity +NM_001320580.2:c.1337C>G NP_001307509.1:p.Ser446Ter NC_000003.12:49056862:G:C p.(Ser446Ter) NC_000003.12:49056862:G:C p.(Ser446Ter) NC_000003.12:49056862:G:C Identity +NM_001169107.2:c.2582C>T NP_001162578.1:p.Pro861Leu NC_000010.11:45785626:C:T p.(Pro861Leu) NC_000010.11:45785626:C:T p.(Pro861Leu) NC_000010.11:45785626:C:T Identity +NM_001394531.1:c.5816T>C NP_001381460.1:p.Met1939Thr NC_000010.11:48821167:T:C p.(Met1939Thr) NC_000010.11:48821167:T:C p.(Met1939Thr) NC_000010.11:48821167:T:C Identity +NM_001317924.2:c.3094C>A NP_001304853.1:p.Pro1032Thr NC_000004.12:39274815:C:A p.(Pro1032Thr) NC_000004.12:39274815:C:A p.(Pro1032Thr) NC_000004.12:39274815:C:A Identity +NM_001394062.1:c.22462G>A NP_001380991.1:p.Gly7488Arg NC_000001.11:39485587:G:A p.(Gly7488Arg) NC_000001.11:39485587:G:A p.(Gly7488Arg) NC_000001.11:39485587:G:A Identity +NM_001943.5:c.850A>G NP_001934.2:p.Asn284Asp NC_000018.10:31524723:A:G p.(Asn284Asp) NC_000018.10:31524723:A:G p.(Asn284Asp) NC_000018.10:31524723:A:G Identity +NM_001080424.2:c.4165G>T NP_001073893.1:p.Gly1389Cys NC_000017.11:7851795:G:T p.(Gly1389Cys) NC_000017.11:7851795:G:T p.(Gly1389Cys) NC_000017.11:7851795:G:T Identity +NM_001362836.2:c.2978G>A NP_001349765.1:p.Gly993Asp NC_000008.11:105803218:G:A p.(Gly993Asp) NC_000008.11:105803218:G:A p.(Gly993Asp) NC_000008.11:105803218:G:A Identity +NM_001030007.2:c.1742C>G NP_001025178.1:p.Ser581Cys NC_000016.10:71745611:G:C p.(Ser581Cys) NC_000016.10:71745611:G:C p.(Ser581Cys) NC_000016.10:71745611:G:C Identity +NM_001363734.1:c.4123A>T NP_001350663.1:p.Ile1375Phe NC_000020.11:32437017:A:T p.(Ile1375Phe) NC_000020.11:32437017:A:T p.(Ile1375Phe) NC_000020.11:32437017:A:T Identity +NM_001145444.1:c.1622C>T NP_001138916.1:p.Ala541Val NC_000021.9:31691877:G:A p.(Ala541Val) NC_000021.9:31691877:G:A p.(Ala541Val) NC_000021.9:31691877:G:A Identity +NM_001372044.2:c.2299C>T NP_001358973.1:p.Arg767Cys NC_000022.11:50706115:C:T ERR:TranscriptMismatch:expected C, found T at transcript indices 2668..2669 NC_000022.11:50711616:T:T ERR:NM_001372044.2:c.2299C>T: Variant reference (C) does not agree with reference sequence (T) ERR:NM_001372044.2:c.2299C>T: Variant reference (C) does not agree with reference sequence (T) Unknown +NM_006950.3:c.443T>C NP_008881.2:p.Phe148Ser NC_000023.11:47607028:A:G p.(Phe148Ser) NC_000023.11:47607028:A:G p.(Phe148Ser) NC_000023.11:47607028:A:G Identity +NM_001143973.2:c.1074T>G NP_001137445.1:p.Tyr358Ter NC_000010.11:95680543:A:C p.(Tyr358Ter) NC_000010.11:95680543:A:C p.(Tyr358Ter) NC_000010.11:95680543:A:C Identity +NM_001365276.2:c.9019G>A NP_001352205.1:p.Val3007Met NC_000006.12:32052765:C:T p.(Val3007Met) NC_000006.12:32052765:C:T p.(Val3007Met) NC_000006.12:32052765:C:T Identity +NM_016239.4:c.9642_9645del NP_057323.3:p.Leu3215fs NC_000017.11:18163268:TCTTTCTT:TCTT p.(Leu3215PhefsTer30) NC_000017.11:18163268:TCTTTCTT:TCTT p.(Leu3215PhefsTer30) NC_000017.11:18163272:TCTT: Analogous +NM_001260474.2:c.1131A>C NP_001247403.1:p.Arg377Ser NC_000021.9:42850153:T:G p.(Arg377Ser) NC_000021.9:42850153:T:G p.(Arg377Ser) NC_000021.9:42850153:T:G Identity +NM_001345998.2:c.1547G>A NP_001332927.1:p.Arg516Gln NC_000005.10:37722886:G:A p.(Arg516Gln) NC_000005.10:37722886:G:A p.(Arg516Gln) NC_000005.10:37722886:G:A Identity +NM_001300899.2:c.1762T>A NP_001287828.1:p.Tyr588Asn NC_000006.12:75866612:T:A p.(Tyr588Asn) NC_000006.12:75866612:T:A p.(Tyr588Asn) NC_000006.12:75866612:T:A Identity +NM_001300899.2:c.2751del NP_001287828.1:p.Lys917fs NC_000006.12:75890140:AAAAAAAAA:AAAAAAAA p.(Lys917AsnfsTer10) NC_000006.12:75890140:AAAAAAAAA:AAAAAAAA p.(Lys917AsnfsTer10) NC_000006.12:75890148:A: Analogous +NM_000435.3:c.1675T>G NP_000426.2:p.Cys559Gly NC_000019.10:15187269:A:C p.(Cys559Gly) NC_000019.10:15187269:A:C p.(Cys559Gly) NC_000019.10:15187269:A:C Identity +NM_020061.6:c.121G>T NP_064445.2:p.Glu41Ter NC_000023.11:154150663:G:T p.(Glu41Ter) NC_000023.11:154150663:G:T p.(Glu41Ter) NC_000023.11:154150663:G:T Identity +NM_000059.4:c.7636del NP_000050.3:p.Ser2546fs NC_000013.11:32357757:TTT:TT p.(Ser2546LeufsTer5) NC_000013.11:32357757:TTT:TT p.(Ser2546LeufsTer5) NC_000013.11:32357759:T: Analogous +NM_005157.6:c.3047G>T NP_005148.2:p.Arg1016Leu NC_000009.12:130885336:G:T p.(Arg1016Leu) NC_000009.12:130885336:G:T p.(Arg1016Leu) NC_000009.12:130885336:G:T Identity +NM_001161504.2:c.14del NP_001154976.1:p.Pro5fs NC_000001.11:18889416:GGG:GG p.(Pro5HisfsTer54) NC_000001.11:18889416:GGG:GG p.(Pro5HisfsTer54) NC_000001.11:18889416:G: Analogous +NM_152424.4:c.148G>A NP_689637.3:p.Gly50Ser NC_000023.11:64193138:C:T p.(Gly50Ser) NC_000023.11:64193138:C:T p.(Gly50Ser) NC_000023.11:64193138:C:T Identity +NM_001852.4:c.1270G>A NP_001843.1:p.Gly424Ser NC_000001.11:40304336:C:T p.(Gly424Ser) NC_000001.11:40304336:C:T p.(Gly424Ser) NC_000001.11:40304336:C:T Identity +NM_000552.5:c.3125C>A NP_000543.3:p.Ser1042Tyr NC_000012.12:6025676:G:T p.(Ser1042Tyr) NC_000012.12:6025676:G:T p.(Ser1042Tyr) NC_000012.12:6025676:G:T Identity +NM_001195573.1:c.2003_2006del NP_001182502.1:p.Tyr668fs NC_000014.9:95113125:AGATA:A p.(Tyr668CysfsTer16) NC_000014.9:95113125:AGATA:A p.(Tyr668CysfsTer16) NC_000014.9:95113125:AGAT: Analogous +NM_001001323.2:c.1348A>G NP_001001323.1:p.Met450Val NC_000012.12:89621787:T:C p.(Met450Val) NC_000012.12:89621787:T:C p.(Met450Val) NC_000012.12:89621787:T:C Identity +NM_000489.6:c.5295C>G NP_000480.3:p.Ile1765Met NC_000023.11:77618958:G:C p.(Ile1765Met) NC_000023.11:77618958:G:C p.(Ile1765Met) NC_000023.11:77618958:G:C Identity +NM_153252.5:c.11C>A NP_694984.5:p.Ala4Glu NC_000023.11:80809460:G:T p.(Ala4Glu) NC_000023.11:80809460:G:T p.(Ala4Glu) NC_000023.11:80809460:G:T Identity +NM_001040616.3:c.1116del NP_001035706.2:p.Glu372fs NC_000015.10:100573756:TT:T p.(Glu372AspfsTer9) NC_000015.10:100573756:TT:T p.(Glu372AspfsTer9) NC_000015.10:100573756:T: Analogous +NM_014423.4:c.1400C>G NP_055238.1:p.Pro467Arg NC_000005.10:132897229:G:C p.(Pro467Arg) NC_000005.10:132897229:G:C p.(Pro467Arg) NC_000005.10:132897229:G:C Identity +NM_032385.5:c.915del NP_115761.2:p.Thr306fs NC_000005.10:154820402:C: p.(Thr306ProfsTer100) NC_000005.10:154820402:C: p.(Thr306ProfsTer100) NC_000005.10:154820402:C: Analogous +NM_001349828.2:c.316T>C NP_001336757.1:p.Tyr106His NC_000002.12:219218357:A:G p.(Tyr106His) NC_000002.12:219218357:A:G p.(Tyr106His) NC_000002.12:219218357:A:G Identity +NM_000371.4:c.236C>T NP_000362.1:p.Thr79Ile NC_000018.10:31595154:C:T p.(Thr79Ile) NC_000018.10:31595154:C:T p.(Thr79Ile) NC_000018.10:31595154:C:T Identity +NM_080869.2:c.234A>C NP_543145.1:p.Glu78Asp NC_000020.11:45124110:T:G p.(Glu78Asp) NC_000020.11:45124110:T:G p.(Glu78Asp) NC_000020.11:45124110:T:G Identity +NM_001080435.3:c.1514G>C NP_001073904.1:p.Arg505Thr NC_000015.10:82826464:G:C p.(Arg505Thr) NC_000015.10:82826464:G:C p.(Arg505Thr) NC_000015.10:82826464:G:C Identity +NM_004626.3:c.983G>A NP_004617.2:p.Arg328Gln NC_000011.10:76187146:C:T p.(Arg328Gln) NC_000011.10:76187146:C:T p.(Arg328Gln) NC_000011.10:76187146:C:T Identity +NM_001048171.2:c.1428_1430del NP_001041636.2:p.Cys477del NC_000001.11:45330519:CAG: p.(Cys477del) NC_000001.11:45330519:CAG: p.(Cys477del) NC_000001.11:45330519:CAG: Identity +NM_000545.8:c.1853_1854del NP_000536.6:p.Ile618fs NC_000012.12:121001148:TC: p.(Ile618ArgfsTer30) NC_000012.12:121001148:TC: p.(Ile618ArgfsTer30) NC_000012.12:121001148:TC: Analogous +NM_000282.4:c.199del NP_000273.2:p.Val68fs NC_000013.11:100111855:C: p.(Val68LeufsTer36) NC_000013.11:100111855:C: p.(Val68LeufsTer36) NC_000013.11:100111855:C: Analogous +NM_001081.4:c.4753C>T NP_001072.2:p.Gln1585Ter NC_000010.11:16954490:G:A p.(Gln1585Ter) NC_000010.11:16954490:G:A p.(Gln1585Ter) NC_000010.11:16954490:G:A Identity +NM_001131010.4:c.1353C>A NP_001124482.1:p.Ser451Arg NC_000003.12:18386464:G:T p.(Ser451Arg) NC_000003.12:18386464:G:T p.(Ser451Arg) NC_000003.12:18386464:G:T Identity +NM_000350.3:c.2279T>C NP_000341.2:p.Leu760Pro NC_000001.11:94056703:A:G p.(Leu760Pro) NC_000001.11:94056703:A:G p.(Leu760Pro) NC_000001.11:94056703:A:G Identity +NM_001164269.2:c.776A>C NP_001157741.1:p.Glu259Ala NC_000015.10:40729632:A:C p.(Glu259Ala) NC_000015.10:40729632:A:C p.(Glu259Ala) NC_000015.10:40729632:A:C Identity +NM_173632.4:c.934del NP_775903.3:p.Arg312fs NC_000019.10:57754063:C: p.(Arg312GlufsTer80) NC_000019.10:57754063:C: p.(Arg312GlufsTer80) NC_000019.10:57754063:C: Analogous +NM_001256789.3:c.3500del NP_001243718.1:p.Pro1167fs NC_000023.11:49215182:GGG:GG p.(Pro1167ArgfsTer10) NC_000023.11:49215182:GGG:GG p.(Pro1167ArgfsTer10) NC_000023.11:49215182:G: Analogous +NM_138694.4:c.6197A>G NP_619639.3:p.Asp2066Gly NC_000006.12:51912500:T:C p.(Asp2066Gly) NC_000006.12:51912500:T:C p.(Asp2066Gly) NC_000006.12:51912500:T:C Identity +NM_000748.3:c.832G>T NP_000739.1:p.Val278Phe NC_000001.11:154571654:G:T p.(Val278Phe) NC_000001.11:154571654:G:T p.(Val278Phe) NC_000001.11:154571654:G:T Identity +NM_001182.5:c.1358A>G NP_001173.2:p.Gln453Arg NC_000005.10:126550252:T:C p.(Gln453Arg) NC_000005.10:126550252:T:C p.(Gln453Arg) NC_000005.10:126550252:T:C Identity +NM_003140.3:c.179T>C NP_003131.1:p.Val60Ala NC_000024.10:2787424:A:G p.(Val60Ala) NC_000024.10:2787424:A:G p.(Val60Ala) NC_000024.10:2787424:A:G Identity +NM_001141945.3:c.350A>C NP_001135417.1:p.Asn117Thr NC_000010.11:88943815:T:G p.(Asn117Thr) NC_000010.11:88943815:T:G p.(Asn117Thr) NC_000010.11:88943815:T:G Identity +NM_000251.3:c.601T>A NP_000242.1:p.Leu201Ile NC_000002.12:47410327:T:A p.(Leu201Ile) NC_000002.12:47410327:T:A p.(Leu201Ile) NC_000002.12:47410327:T:A Identity +NM_001130438.3:c.6119A>G NP_001123910.1:p.Asn2040Ser NC_000009.12:128625817:A:G p.(Asn2040Ser) NC_000009.12:128625817:A:G p.(Asn2040Ser) NC_000009.12:128625817:A:G Identity +NM_000335.5:c.1799T>G NP_000326.2:p.Val600Gly NC_000003.12:38603802:A:C p.(Val600Gly) NC_000003.12:38603802:A:C p.(Val600Gly) NC_000003.12:38603802:A:C Identity +NM_020719.3:c.3818A>G NP_065770.1:p.Lys1273Arg NC_000019.10:49599410:A:G p.(Lys1273Arg) NC_000019.10:49599410:A:G p.(Lys1273Arg) NC_000019.10:49599410:A:G Identity +NM_001270.4:c.1292A>G NP_001261.2:p.Lys431Arg NC_000005.10:98898328:T:C p.(Lys431Arg) NC_000005.10:98898328:T:C p.(Lys431Arg) NC_000005.10:98898328:T:C Identity +NM_000516.7:c.507C>G NP_000507.1:p.Tyr169Ter NC_000020.11:58905456:C:G p.(Tyr169Ter) NC_000020.11:58905456:C:G p.(Tyr169Ter) NC_000020.11:58905456:C:G Identity +NM_000387.6:c.110G>C NP_000378.1:p.Arg37Pro NC_000003.12:48892067:C:G p.(Arg37Pro) NC_000003.12:48892067:C:G p.(Arg37Pro) NC_000003.12:48892067:C:G Identity +NM_000419.5:c.3049G>C NP_000410.2:p.Ala1017Pro NC_000017.11:44374364:C:G p.(Ala1017Pro) NC_000017.11:44374364:C:G p.(Ala1017Pro) NC_000017.11:44374364:C:G Identity +NM_000173.7:c.62A>C NP_000164.5:p.Glu21Ala NC_000017.11:4932665:A:C p.(Glu21Ala) NC_000017.11:4932665:A:C p.(Glu21Ala) NC_000017.11:4932665:A:C Identity +NM_001033855.3:c.401C>A NP_001029027.1:p.Thr134Lys NC_000010.11:14935525:G:T p.(Thr134Lys) NC_000010.11:14935525:G:T p.(Thr134Lys) NC_000010.11:14935525:G:T Identity +NM_003619.4:c.2269_2270del NP_003610.2:p.Arg757fs NC_000004.12:118282880:CTCTCTCTC:CTCTCTC p.(Arg757AlafsTer15) NC_000004.12:118282880:CTCTCTCTC:CTCTCTC p.(Arg757AlafsTer15) NC_000004.12:118282880:CT: Analogous +NM_007123.6:c.3839T>C NP_009054.6:p.Met1280Thr NC_000001.11:216198556:A:G p.(Met1280Thr) NC_000001.11:216198556:A:G p.(Met1280Thr) NC_000001.11:216198556:A:G Identity +NM_000235.4:c.254A>C NP_000226.2:p.Gln85Pro NC_000010.11:89228373:T:G p.(Gln85Pro) NC_000010.11:89228373:T:G p.(Gln85Pro) NC_000010.11:89228373:T:G Identity +NM_001278557.1:c.836A>G NP_001265486.1:p.Asn279Ser NC_000012.12:118036385:T:C p.(Asn279Ser) NC_000012.12:118036385:T:C p.(Asn279Ser) NC_000012.12:118036385:T:C Identity +NM_000379.4:c.561C>G NP_000370.2:p.His187Gln NC_000002.12:31388229:G:C p.(His187Gln) NC_000002.12:31388229:G:C p.(His187Gln) NC_000002.12:31388229:G:C Identity +NM_000448.3:c.2971C>G NP_000439.2:p.Leu991Val NC_000011.10:36576274:C:G p.(Leu991Val) NC_000011.10:36576274:C:G p.(Leu991Val) NC_000011.10:36576274:C:G Identity +NM_005027.4:c.1330G>A NP_005018.2:p.Ala444Thr NC_000019.10:18163301:G:A p.(Ala444Thr) NC_000019.10:18163301:G:A p.(Ala444Thr) NC_000019.10:18163301:G:A Identity +NM_001145794.2:c.658G>A NP_001139266.1:p.Glu220Lys NC_000004.12:80036010:C:T p.(Glu220Lys) NC_000004.12:80036010:C:T p.(Glu220Lys) NC_000004.12:80036010:C:T Identity +NM_004608.4:c.1288G>A NP_004599.2:p.Val430Met NC_000016.10:30086247:C:T p.(Val430Met) NC_000016.10:30086247:C:T p.(Val430Met) NC_000016.10:30086247:C:T Identity +NM_001281303.2:c.1225G>A NP_001268232.1:p.Val409Ile NC_000009.12:92038276:C:T p.(Val409Ile) NC_000009.12:92038276:C:T p.(Val409Ile) NC_000009.12:92038276:C:T Identity +NM_001199378.2:c.1421A>G NP_001186307.1:p.Tyr474Cys NC_000010.11:102361049:A:G p.(Tyr474Cys) NC_000010.11:102361049:A:G p.(Tyr474Cys) NC_000010.11:102361049:A:G Identity +NM_001282625.2:c.161C>A NP_001269554.1:p.Thr54Lys NC_000001.11:156115078:C:A p.(Thr54Lys) NC_000001.11:156115078:C:A p.(Thr54Lys) NC_000001.11:156115078:C:A Identity +NM_001297575.2:c.595G>T NP_001284504.1:p.Asp199Tyr NC_000001.11:179552676:C:A p.(Asp199Tyr) NC_000001.11:179552676:C:A p.(Asp199Tyr) NC_000001.11:179552676:C:A Identity +NM_001171087.3:c.208G>A NP_001164558.1:p.Ala70Thr NC_000003.12:184358986:C:T p.(Ala70Thr) NC_000003.12:184358986:C:T p.(Ala70Thr) NC_000003.12:184358986:C:T Identity +NM_001280787.1:c.566C>T NP_001267716.1:p.Pro189Leu NC_000009.12:133351922:G:A p.(Pro189Leu) NC_000009.12:133351922:G:A p.(Pro189Leu) NC_000009.12:133351922:G:A Identity +NM_000720.4:c.5503T>C NP_000711.1:p.Ser1835Pro NC_000003.12:53803429:T:C p.(Ser1835Pro) NC_000003.12:53803429:T:C p.(Ser1835Pro) NC_000003.12:53803429:T:C Identity +NM_001135669.2:c.1243T>C NP_001129141.1:p.Cys415Arg NC_000001.11:180834981:T:C p.(Cys415Arg) NC_000001.11:180834981:T:C p.(Cys415Arg) NC_000001.11:180834981:T:C Identity +NM_001317960.1:c.1332A>G NP_001304889.1:p.Ile444Met NC_000020.11:21333966:A:G p.(Ile444Met) NC_000020.11:21333966:A:G p.(Ile444Met) NC_000020.11:21333966:A:G Identity +NM_001270380.3:c.301A>G NP_001257309.1:p.Lys101Glu NC_000011.10:74933850:T:C p.(Lys101Glu) NC_000011.10:74933850:T:C p.(Lys101Glu) NC_000011.10:74933850:T:C Identity +NM_001256834.3:c.713A>G NP_001243763.1:p.Asn238Ser NC_000017.11:8205240:T:C p.(Asn238Ser) NC_000017.11:8205240:T:C p.(Asn238Ser) NC_000017.11:8205240:T:C Identity +NM_001199981.2:c.591dup NP_001186910.1:p.Lys198Ter NC_000002.12:206146940:A:AA p.(Lys198Ter) NC_000002.12:206146940:A:AA p.(Lys198Ter) ERR:SPDI Identity +NM_001304360.2:c.2924del NP_001291289.1:p.Leu975fs NC_000001.11:1938941:A: p.(Leu975ArgfsTer8) NC_000001.11:1938941:A: p.(Leu975ArgfsTer8) NC_000001.11:1938941:A: Analogous +NM_001281739.3:c.1399GAA[1] NP_001268668.1:p.Glu468del NC_000018.10:36681522:AGAAGAA:AGAA p.(Glu468del) NC_000018.10:36681523:G:GAA ERR:Parse ERR:Parse Identity +NM_152268.4:c.401G>A NP_689481.2:p.Trp134Ter NC_000001.11:54758760:C:T p.(Trp134Ter) NC_000001.11:54758760:C:T p.(Trp134Ter) NC_000001.11:54758760:C:T Identity +LRG_557t2:c.1541C>G LRG_557p2:p.Pro514Arg NC_000004.12:154585887:G:C ERR:Data provider error: ValueError: Transcript LRG_557t2 not found ERR:Data provider error: ValueError: Transcript LRG_557t2 not found ERR:AlignmentMapper(tx_ac=LRG_557t2, alt_ac=LRG_557t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_557t2, alt_ac=LRG_557t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_557t2 not found +NM_000206.3:c.551A>G NP_000197.1:p.Glu184Gly NC_000023.11:71110198:T:C p.(Glu184Gly) NC_000023.11:71110198:T:C p.(Glu184Gly) NC_000023.11:71110198:T:C Identity +NM_001282237.2:c.2531C>T NP_001269166.1:p.Thr844Met NC_000014.9:99174301:G:A p.(Thr844Met) NC_000014.9:99174301:G:A p.(Thr844Met) NC_000014.9:99174301:G:A Identity +NM_001127487.2:c.7566T>A NP_001120959.1:p.Cys2522Ter NC_000007.14:128857220:T:A p.(Cys2522Ter) NC_000007.14:128857220:T:A p.(Cys2522Ter) NC_000007.14:128857220:T:A Identity +NM_002087.2:c.1317delC NP_002078.1:p.Arg440Glufs NC_000017.11:44352148:CCCC:CCC ERR:Data provider error: ValueError: Transcript NM_002087.2 not found ERR:Data provider error: ValueError: Transcript NM_002087.2 not found ERR:AlignmentMapper(tx_ac=NM_002087.2, alt_ac=NM_002087.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_002087.2, alt_ac=NM_002087.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_002087.2 not found +NM_001256182.2:c.6049G>A NP_001243111.1:p.Ala2017Thr NC_000016.10:89280492:C:T p.(Ala2017Thr) NC_000016.10:89280492:C:T p.(Ala2017Thr) NC_000016.10:89280492:C:T Identity +NM_001345975.2:c.771A>C NP_001332904.1:p.Glu257Asp NC_000005.10:113541013:A:C p.(Glu257Asp) NC_000005.10:113541013:A:C p.(Glu257Asp) NC_000005.10:113541013:A:C Identity +NM_001127231.3:c.2801C>T NP_001120703.1:p.Ser934Leu NC_000007.14:70790088:C:T p.(Ser934Leu) NC_000007.14:70790088:C:T p.(Ser934Leu) NC_000007.14:70790088:C:T Identity +NM_024508.5:c.382G>A NP_078784.2:p.Gly128Arg NC_000003.12:111593819:C:T p.(Gly128Arg) NC_000003.12:111593819:C:T p.(Gly128Arg) NC_000003.12:111593819:C:T Identity +NM_001160417.2:c.1000G>A NP_001153889.1:p.Gly334Ser NC_000020.11:57610238:C:T p.(Gly334Ser) NC_000020.11:57610238:C:T p.(Gly334Ser) NC_000020.11:57610238:C:T Identity +NM_001318785.2:c.236G>A NP_001305714.1:p.Arg79Gln NC_000006.12:87530793:C:T p.(Arg79Gln) NC_000006.12:87530793:C:T p.(Arg79Gln) NC_000006.12:87530793:C:T Identity +NM_012310.5:c.1433A>G NP_036442.3:p.Asp478Gly NC_000023.11:70352600:A:G p.(Asp478Gly) NC_000023.11:70352600:A:G p.(Asp478Gly) NC_000023.11:70352600:A:G Identity +NM_001135058.2:c.610G>A NP_001128530.1:p.Val204Met NC_000014.9:30880714:G:A p.(Val204Met) NC_000014.9:30880714:G:A p.(Val204Met) NC_000014.9:30880714:G:A Identity +NM_001177984.3:c.4549A>G NP_001171455.1:p.Asn1517Asp NC_000012.12:51794517:A:G p.(Asn1517Asp) NC_000012.12:51794517:A:G p.(Asn1517Asp) NC_000012.12:51794517:A:G Identity +NM_002181.4:c.532G>C NP_002172.2:p.Val178Leu NC_000002.12:219057477:C:G p.(Val178Leu) NC_000002.12:219057477:C:G p.(Val178Leu) NC_000002.12:219057477:C:G Identity +NM_002181.4:c.541del NP_002172.2:p.Glu181fs NC_000002.12:219057468:C: p.(Glu181SerfsTer43) NC_000002.12:219057468:C: p.(Glu181SerfsTer43) NC_000002.12:219057468:C: Analogous +NM_000312.4:c.1075G>T NP_000303.1:p.Val359Phe NC_000002.12:127428634:G:T p.(Val359Phe) NC_000002.12:127428634:G:T p.(Val359Phe) NC_000002.12:127428634:G:T Identity +NM_000457.6:c.336C>G NP_000448.3:p.Cys112Trp NC_000020.11:44407425:C:G p.(Cys112Trp) NC_000020.11:44407425:C:G p.(Cys112Trp) NC_000020.11:44407425:C:G Identity +NM_000296.4:c.11690_11699dup NP_000287.4:p.Leu3901fs NC_000016.10:2091432:AGAGGCAGCGAGAGGC:AGAGGCAGCGAGAGGCAGCGAGAGGC p.(Leu3901AlafsTer62) NC_000016.10:2091432:AGAGGCAGCGAGAGGC:AGAGGCAGCGAGAGGCAGCGAGAGGC p.(Leu3901AlafsTer62) ERR:SPDI Analogous +NM_000059.4:c.8580del NP_000050.3:p.Arg2861fs NC_000013.11:32371047:G: p.(Arg2861AspfsTer2) NC_000013.11:32371047:G: p.(Arg2861AspfsTer2) NC_000013.11:32371047:G: Analogous +NM_001077186.2:c.3902C>T NP_001070654.1:p.Ala1301Val NC_000019.10:50278257:C:T p.(Ala1301Val) NC_000019.10:50278257:C:T p.(Ala1301Val) NC_000019.10:50278257:C:T Identity +NM_000193.4:c.839C>A NP_000184.1:p.Ser280Ter NC_000007.14:155803449:G:T p.(Ser280Ter) NC_000007.14:155803449:G:T p.(Ser280Ter) NC_000007.14:155803449:G:T Identity +NM_001151.4:c.390del NP_001142.2:p.Phe130fs NC_000004.12:185145039:TTT:TT p.(Phe130LeufsTer41) NC_000004.12:185145039:TTT:TT p.(Phe130LeufsTer41) NC_000004.12:185145041:T: Analogous +NM_000474.4:c.431G>A NP_000465.1:p.Ser144Asn NC_000007.14:19116890:C:T p.(Ser144Asn) NC_000007.14:19116890:C:T p.(Ser144Asn) NC_000007.14:19116890:C:T Identity +NM_201636.3:c.892A>T NP_963998.2:p.Thr298Ser NC_000019.10:3595827:T:A p.(Thr298Ser) NC_000019.10:3595827:T:A p.(Thr298Ser) NC_000019.10:3595827:T:A Identity +NM_198578.4:c.6448G>A NP_940980.4:p.Val2150Ile NC_000012.12:40351604:G:A p.(Val2150Ile) NC_000012.12:40351604:G:A p.(Val2150Ile) NC_000012.12:40351604:G:A Identity +NM_001068.3:c.4136A>C NP_001059.2:p.Asp1379Ala NC_000003.12:25607317:T:G p.(Asp1379Ala) NC_000003.12:25607317:T:G p.(Asp1379Ala) NC_000003.12:25607317:T:G Identity +NM_001146082.3:c.310G>A NP_001139554.1:p.Val104Ile NC_000019.10:54187183:C:T p.(Val104Ile) NC_000019.10:54187183:C:T p.(Val104Ile) NC_000019.10:54187183:C:T Identity +NM_000238.4:c.236_243dup NP_000229.1:p.Ile82fs NC_000007.14:150974774:CTGCGCGGC:CTGCGCGGCTGCGCGGC p.(Ile82ProfsTer37) NC_000007.14:150974774:CTGCGCGGC:CTGCGCGGCTGCGCGGC p.(Ile82ProfsTer37) ERR:SPDI Analogous +NM_005321.3:c.446_447insT NP_005312.1:p.Lys149fs NC_000006.12:26156836::T p.(Lys149AsnfsTer47) NC_000006.12:26156835:A:T p.(Lys149AsnfsTer47) NC_000006.12:26156836:AG:T Analogous +NM_001193307.2:c.1274del NP_001180236.1:p.Thr425fs NC_000007.14:93104823:G: p.(Thr425LysfsTer4) NC_000007.14:93104823:G: p.(Thr425LysfsTer4) NC_000007.14:93104823:G: Analogous +NM_001195139.2:c.3G>A NP_001182068.2:p.Met1Ile NC_000016.10:70523528:C:T p.(Met1Ile) NC_000016.10:70523528:C:T p.Met1? NC_000016.10:70523528:C:T Identity +NM_001277269.2:c.590C>T NP_001264198.1:p.Pro197Leu NC_000011.10:17555791:C:T p.(Pro197Leu) NC_000011.10:17555791:C:T p.(Pro197Leu) NC_000011.10:17555791:C:T Identity +NM_000248.4:c.284A>C NP_000239.1:p.Gln95Pro NC_000003.12:69939119:A:C p.(Gln95Pro) NC_000003.12:69939119:A:C p.(Gln95Pro) NC_000003.12:69939119:A:C Identity +NM_001303052.2:c.2257A>C NP_001289981.1:p.Lys753Gln NC_000002.12:1892062:T:G p.(Lys753Gln) NC_000002.12:1892062:T:G p.(Lys753Gln) NC_000002.12:1892062:T:G Identity +NM_001030001.4:c.76A>G NP_001025172.1:p.Asn26Asp NC_000014.9:49586035:T:C p.(Asn26Asp) NC_000014.9:49586035:T:C p.(Asn26Asp) NC_000014.9:49586035:T:C Identity +NM_001001323.2:c.2912A>G NP_001001323.1:p.His971Arg NC_000012.12:89603190:T:C p.(His971Arg) NC_000012.12:89603190:T:C p.(His971Arg) NC_000012.12:89603190:T:C Identity +NM_001037343.2:c.2011G>A NP_001032420.1:p.Gly671Ser NC_000023.11:18608876:G:A p.(Gly671Ser) NC_000023.11:18608876:G:A p.(Gly671Ser) NC_000023.11:18608876:G:A Identity +NM_006742.3:c.376A>G NP_006733.1:p.Ile126Val NC_000016.10:67909124:A:G p.(Ile126Val) NC_000016.10:67909124:A:G p.(Ile126Val) NC_000016.10:67909124:A:G Identity +NM_001080547.2:c.28T>C NP_001074016.1:p.Phe10Leu NC_000011.10:47378325:A:G p.(Phe10Leu) NC_000011.10:47378325:A:G p.(Phe10Leu) NC_000011.10:47378325:A:G Identity +NM_005249.5:c.1346C>G NP_005240.3:p.Ser449Trp NC_000014.9:28768624:C:G p.(Ser449Trp) NC_000014.9:28768624:C:G p.(Ser449Trp) NC_000014.9:28768624:C:G Identity +NM_052874.5:c.824G>A NP_443106.1:p.Gly275Glu NC_000016.10:30992863:C:T p.(Gly275Glu) NC_000016.10:30992863:C:T p.(Gly275Glu) NC_000016.10:30992863:C:T Identity +NM_001129727.3:c.2048G>A NP_001123199.1:p.Gly683Glu NC_000016.10:67285067:G:A p.(Gly683Glu) NC_000016.10:67285067:G:A p.(Gly683Glu) NC_000016.10:67285067:G:A Identity +NM_000249.4:c.646_647del NP_000240.1:p.Ile216fs NC_000003.12:37012065:ATAT:AT p.(Ile216SerfsTer9) NC_000003.12:37012065:ATAT:AT p.(Ile216SerfsTer9) NC_000003.12:37012067:AT: Analogous +NM_001184985.2:c.6002C>T NP_001171914.1:p.Thr2001Ile NC_000012.12:886025:C:T p.(Thr2001Ile) NC_000012.12:886025:C:T p.(Thr2001Ile) NC_000012.12:886025:C:T Identity +NM_000296.4:c.3121del NP_000287.4:p.Ala1041fs NC_000016.10:2112827:CC:C p.(Ala1041ArgfsTer63) NC_000016.10:2112827:CC:C p.(Ala1041ArgfsTer63) NC_000016.10:2112827:C: Analogous +NM_001256324.2:c.6760G>C NP_001243253.1:p.Glu2254Gln NC_000017.11:50626565:G:C p.(Glu2254Gln) NC_000017.11:50626565:G:C p.(Glu2254Gln) NC_000017.11:50626565:G:C Identity +NM_001256213.2:c.859A>G NP_001243142.1:p.Ile287Val NC_000019.10:41985084:T:C p.(Ile287Val) NC_000019.10:41985084:T:C p.(Ile287Val) NC_000019.10:41985084:T:C Identity +NM_001305275.2:c.1555G>T NP_001292204.1:p.Ala519Ser NC_000001.11:1043408:G:T p.(Ala519Ser) NC_000001.11:1043408:G:T p.(Ala519Ser) NC_000001.11:1043408:G:T Identity +NM_001160130.2:c.896C>T NP_001153602.1:p.Ala299Val NC_000006.12:73077864:C:T p.(Ala299Val) NC_000006.12:73077864:C:T p.(Ala299Val) NC_000006.12:73077864:C:T Identity +NM_015891.3:c.964C>T NP_056975.1:p.Arg322Trp NC_000006.12:110215306:C:T p.(Arg322Trp) NC_000006.12:110215306:C:T p.(Arg322Trp) NC_000006.12:110215306:C:T Identity +NM_000227.6:c.2521G>A NP_000218.3:p.Gly841Ser NC_000018.10:23914427:G:A p.(Gly841Ser) NC_000018.10:23914427:G:A p.(Gly841Ser) NC_000018.10:23914427:G:A Identity +NM_000093.5:c.3328C>T NP_000084.3:p.Gln1110Ter NC_000009.12:134806257:C:T p.(Gln1110Ter) NC_000009.12:134806257:C:T p.(Gln1110Ter) NC_000009.12:134806257:C:T Identity +NM_015030.2:c.6382C>T NP_055845.1:p.Arg2128Ter NC_000004.12:48539981:G:A p.(Arg2128Ter) NC_000004.12:48539981:G:A p.(Arg2128Ter) NC_000004.12:48539981:G:A Identity +NM_001242896.3:c.2189C>A NP_001229825.1:p.Pro730His NC_000022.11:31836989:C:A p.(Pro730His) NC_000022.11:31836989:C:A p.(Pro730His) NC_000022.11:31836989:C:A Identity +NM_001161.5:c.372G>C NP_001152.1:p.Gln124His NC_000009.12:34343367:G:C p.(Gln124His) NC_000009.12:34343367:G:C p.(Gln124His) NC_000009.12:34343367:G:C Identity +NM_016642.4:c.10871C>G NP_057726.4:p.Pro3624Arg NC_000015.10:41850903:G:C p.(Pro3624Arg) NC_000015.10:41850903:G:C p.(Pro3624Arg) NC_000015.10:41850903:G:C Identity +NM_138694.4:c.4510A>T NP_619639.3:p.Ile1504Phe NC_000006.12:52025299:T:A p.(Ile1504Phe) NC_000006.12:52025299:T:A p.(Ile1504Phe) NC_000006.12:52025299:T:A Identity +NM_001005271.3:c.3736C>G NP_001005271.2:p.Arg1246Gly NC_000017.11:7903334:C:G p.(Arg1246Gly) NC_000017.11:7903334:C:G p.(Arg1246Gly) NC_000017.11:7903334:C:G Identity +NM_001378451.1:c.258C>G NP_001365380.1:p.Tyr86Ter NC_000003.12:186575871:C:G p.(Tyr86Ter) NC_000003.12:186575871:C:G p.(Tyr86Ter) NC_000003.12:186575871:C:G Identity +NM_000068.4:c.3977G>A NP_000059.3:p.Gly1326Glu NC_000019.10:13275873:C:T p.(Gly1326Glu) NC_000019.10:13275873:C:T p.(Gly1326Glu) NC_000019.10:13275873:C:T Identity +NM_001012478.2:c.527G>T NP_001012496.1:p.Gly176Val NC_000019.10:55662541:G:T p.(Gly176Val) NC_000019.10:55662541:G:T p.(Gly176Val) NC_000019.10:55662541:G:T Identity +NM_001365999.1:c.2749G>C NP_001352928.1:p.Val917Leu NC_000001.11:43425576:G:C p.(Val917Leu) NC_000001.11:43425576:G:C p.(Val917Leu) NC_000001.11:43425576:G:C Identity +NM_001411037.1:c.2298A>C NP_001397966.1:p.Arg766Ser NC_000011.10:110165379:A:C p.(Arg766Ser) NC_000011.10:110165379:A:C p.(Arg766Ser) NC_000011.10:110165379:A:C Identity +NM_001076788.2:c.4123A>G NP_001070256.1:p.Arg1375Gly NC_000013.11:45967701:T:C p.(Arg1375Gly) NC_000013.11:45967701:T:C p.(Arg1375Gly) NC_000013.11:45967701:T:C Identity +NM_007192.4:c.809C>G NP_009123.1:p.Ala270Gly NC_000014.9:21368414:G:C p.(Ala270Gly) NC_000014.9:21368414:G:C p.(Ala270Gly) NC_000014.9:21368414:G:C Identity +NM_001204403.2:c.388C>T NP_001191332.1:p.Gln130Ter NC_000010.11:60278781:G:A p.(Gln130Ter) NC_000010.11:60278781:G:A p.(Gln130Ter) NC_000010.11:60278781:G:A Identity +NM_001285549.2:c.6768G>C NP_001272478.1:p.Arg2256Ser NC_000002.12:206311301:G:C p.(Arg2256Ser) NC_000002.12:206311301:G:C p.(Arg2256Ser) NC_000002.12:206311301:G:C Identity +NM_001362988.2:c.284C>G NP_001349917.1:p.Ser95Cys NC_000008.11:17195618:C:G p.(Ser95Cys) NC_000008.11:17195618:C:G p.(Ser95Cys) NC_000008.11:17195618:C:G Identity +NM_001303134.2:c.1038G>C NP_001290063.1:p.Gln346His NC_000010.11:112432416:C:G p.(Gln346His) NC_000010.11:112432416:C:G p.(Gln346His) NC_000010.11:112432416:C:G Identity +NM_001297619.2:c.550C>T NP_001284548.1:p.Arg184Cys NC_000019.10:36341278:G:A p.(Arg184Cys) NC_000019.10:36341278:G:A p.(Arg184Cys) NC_000019.10:36341278:G:A Identity +NM_001105537.4:c.4480C>A NP_001099007.1:p.Arg1494Ser NC_000002.12:218642035:G:T p.(Arg1494Ser) NC_000002.12:218642035:G:T p.(Arg1494Ser) NC_000002.12:218642035:G:T Identity +NM_003417.5:c.671T>C NP_003408.1:p.Ile224Thr NC_000019.10:57211767:T:C p.(Ile224Thr) NC_000019.10:57211767:T:C p.(Ile224Thr) NC_000019.10:57211767:T:C Identity +NM_001002843.3:c.2604T>G NP_001002843.1:p.Ile868Met NC_000015.10:56631794:A:C p.(Ile868Met) NC_000015.10:56631794:A:C p.(Ile868Met) NC_000015.10:56631794:A:C Identity +NM_001270497.3:c.1366G>A NP_001257426.1:p.Gly456Arg NC_000020.11:46501969:C:T p.(Gly456Arg) NC_000020.11:46501969:C:T p.(Gly456Arg) NC_000020.11:46501969:C:T Identity +NM_001305033.2:c.1190G>A NP_001291962.1:p.Cys397Tyr NC_000010.11:42593780:C:T p.(Cys397Tyr) NC_000010.11:42593780:C:T p.(Cys397Tyr) NC_000010.11:42593780:C:T Identity +NM_001282495.1:c.1512G>T NP_001269424.1:p.Gln504His NC_000020.11:2483448:C:A p.(Gln504His) NC_000020.11:2483448:C:A p.(Gln504His) NC_000020.11:2483448:C:A Identity +NM_001172674.2:c.281C>G NP_001166145.1:p.Ser94Cys NC_000019.10:53142549:G:C p.(Ser94Cys) NC_000019.10:53142549:G:C p.(Ser94Cys) NC_000019.10:53142549:G:C Identity +NM_001345947.2:c.307G>C NP_001332876.1:p.Glu103Gln NC_000019.10:37242542:G:C p.(Glu103Gln) NC_000019.10:37242542:G:C p.(Glu103Gln) NC_000019.10:37242542:G:C Identity +NM_001135178.3:c.705A>C NP_001128650.1:p.Arg235Ser NC_000018.10:35245409:A:C p.(Arg235Ser) NC_000018.10:35245409:A:C p.(Arg235Ser) NC_000018.10:35245409:A:C Identity +NM_001143766.2:c.244C>G NP_001137238.1:p.Leu82Val NC_000010.11:30850160:G:C p.(Leu82Val) NC_000010.11:30850160:G:C p.(Leu82Val) NC_000010.11:30850160:G:C Identity +NM_000296.4:c.8646G>A NP_000287.4:p.Trp2882Ter NC_000016.10:2103410:C:T p.(Trp2882Ter) NC_000016.10:2103410:C:T p.(Trp2882Ter) NC_000016.10:2103410:C:T Identity +NM_000296.4:c.8502del NP_000287.4:p.Phe2836fs NC_000016.10:2103554:AAA:AA p.(Phe2836LeufsTer39) NC_000016.10:2103554:AAA:AA p.(Phe2836LeufsTer39) NC_000016.10:2103554:A: Analogous +NM_000296.4:c.11349_11352del NP_000287.4:p.Trp3784fs NC_000016.10:2092102:CCAGCCA:CCA p.(Trp3784ArgfsTer40) NC_000016.10:2092102:CCAGCCA:CCA p.(Trp3784ArgfsTer40) NC_000016.10:2092102:CCAG: Analogous +NM_000785.4:c.1166G>C NP_000776.1:p.Arg389Pro NC_000012.12:57764146:C:G p.(Arg389Pro) NC_000012.12:57764146:C:G p.(Arg389Pro) NC_000012.12:57764146:C:G Identity +NM_001394062.1:c.17521G>A NP_001380991.1:p.Glu5841Lys NC_000001.11:39433110:G:A p.(Glu5841Lys) NC_000001.11:39433110:G:A p.(Glu5841Lys) NC_000001.11:39433110:G:A Identity +NM_001182.5:c.445G>A NP_001173.2:p.Glu149Lys NC_000005.10:126582922:C:T p.(Glu149Lys) NC_000005.10:126582922:C:T p.(Glu149Lys) NC_000005.10:126582922:C:T Identity +NM_000520.6:c.187G>A NP_000511.2:p.Glu63Lys NC_000015.10:72375785:C:T p.(Glu63Lys) NC_000015.10:72375785:C:T p.(Glu63Lys) NC_000015.10:72375785:C:T Identity +NM_001079802.2:c.497T>C NP_001073270.1:p.Leu166Pro NC_000009.12:105604341:T:C p.(Leu166Pro) NC_000009.12:105604341:T:C p.(Leu166Pro) NC_000009.12:105604341:T:C Identity +NM_020451.3:c.243dup NP_065184.2:p.Asp82Ter NC_000001.11:25801101:T:TT p.(Asp82Ter) NC_000001.11:25801101:T:TT p.? ERR:SPDI Identity +NM_001001890.3:c.1162C>G NP_001001890.1:p.Gln388Glu NC_000021.9:34792334:G:C p.(Gln388Glu) NC_000021.9:34792334:G:C p.(Gln388Glu) NC_000021.9:34792334:G:C Identity +NM_020765.3:c.3035T>G NP_065816.2:p.Ile1012Ser NC_000001.11:19173568:A:C p.(Ile1012Ser) NC_000001.11:19173568:A:C p.(Ile1012Ser) NC_000001.11:19173568:A:C Identity +NM_001272004.3:c.1705del NP_001258933.1:p.Ser569fs NC_000010.11:32284736:A: p.(Ser569LeufsTer73) NC_000010.11:32284736:A: p.(Ser569LeufsTer73) NC_000010.11:32284736:A: Analogous +NM_001371271.1:c.217T>C NP_001358200.1:p.Tyr73His NC_000002.12:120927428:T:C p.(Tyr73His) NC_000002.12:120927428:T:C p.(Tyr73His) NC_000002.12:120927428:T:C Identity +NM_000218.3:c.223del NP_000209.2:p.Val75fs NC_000011.10:2445320:G: p.(Val75LeufsTer11) NC_000011.10:2445320:G: p.(Val75LeufsTer11) NC_000011.10:2445320:G: Analogous +NM_001363823.2:c.988G>A NP_001350752.1:p.Glu330Lys NC_000002.12:32115821:G:A p.(Glu330Lys) NC_000002.12:32115821:G:A p.(Glu330Lys) NC_000002.12:32115821:G:A Identity +NM_001127396.3:c.694C>T NP_001120868.1:p.Arg232Trp NC_000019.10:7642241:C:T p.(Arg232Trp) NC_000019.10:7642241:C:T p.(Arg232Trp) NC_000019.10:7642241:C:T Identity +NM_000038.6:c.3748A>T NP_000029.2:p.Lys1250Ter NC_000005.10:112839341:A:T p.(Lys1250Ter) NC_000005.10:112839341:A:T p.(Lys1250Ter) NC_000005.10:112839341:A:T Identity +NM_001184772.3:c.2576C>T NP_001171701.1:p.Pro859Leu NC_000023.11:130015347:C:T p.(Pro859Leu) NC_000023.11:130015347:C:T p.(Pro859Leu) NC_000023.11:130015347:C:T Identity +NM_001288653.2:c.642del NP_001275582.1:p.Glu215fs NC_000017.11:59648349:A: p.(Glu215LysfsTer65) NC_000017.11:59648349:A: p.(Glu215LysfsTer65) NC_000017.11:59648349:A: Analogous +NM_001110792.2:c.17_27dup NP_001104262.1:p.Ser10fs NC_000023.11:154097638:CGGCGCGGCGGCGGCG:CGGCGCGGCGGCGGCGCGGCGGCGGCG p.(Ser10ProfsTer38) NC_000023.11:154097638:CGGCGCGGCGGCGGCG:CGGCGCGGCGGCGGCGCGGCGGCGGCG p.(Ser10ProfsTer38) ERR:SPDI Analogous +NM_002364.5:c.83del NP_002355.2:p.Pro28fs NC_000023.11:30218661:CC:C p.(Pro28LeufsTer84) NC_000023.11:30218661:CC:C p.(Pro28LeufsTer84) NC_000023.11:30218662:C: Analogous +NM_001320893.1:c.1303G>A NP_001307822.1:p.Gly435Arg NC_000002.12:25244246:C:T p.(Gly435Arg) NC_000002.12:25244246:C:T p.(Gly435Arg) NC_000002.12:25244246:C:T Identity +NM_001206557.2:c.4073dup NP_001193486.1:p.Asn1358fs NC_000009.12:5774156:AA:AAA p.(Asn1358LysfsTer52) NC_000009.12:5774156:AA:AAA p.(Asn1358LysfsTer52) ERR:SPDI Analogous +NM_001110792.2:c.847A>T NP_001104262.1:p.Lys283Ter NC_000023.11:154031016:T:A p.(Lys283Ter) NC_000023.11:154031016:T:A p.(Lys283Ter) NC_000023.11:154031016:T:A Identity +NM_001282625.2:c.1067T>C NP_001269554.1:p.Leu356Pro NC_000001.11:156136030:T:C p.(Leu356Pro) NC_000001.11:156136030:T:C p.(Leu356Pro) NC_000001.11:156136030:T:C Identity +NM_152424.4:c.434C>T NP_689637.3:p.Thr145Ile NC_000023.11:64192852:G:A p.(Thr145Ile) NC_000023.11:64192852:G:A p.(Thr145Ile) NC_000023.11:64192852:G:A Identity +NM_000133.4:c.1372del NP_000124.1:p.Thr458fs NC_000023.11:139562051:AAAAAA:AAAAA p.(Thr458GlnfsTer25) NC_000023.11:139562051:AAAAAA:AAAAA p.(Thr458GlnfsTer25) NC_000023.11:139562056:A: Analogous +NM_004973.4:c.314C>T NP_004964.2:p.Ser105Leu NC_000006.12:15410355:C:T p.(Ser105Leu) NC_000006.12:15410355:C:T p.(Ser105Leu) NC_000006.12:15410355:C:T Identity +NM_003742.4:c.3383G>T NP_003733.2:p.Arg1128Leu NC_000002.12:168930692:C:A p.(Arg1128Leu) NC_000002.12:168930692:C:A p.(Arg1128Leu) NC_000002.12:168930692:C:A Identity +NM_001122633.3:c.3761T>C NP_001116105.2:p.Ile1254Thr NC_000002.12:210660488:T:C p.(Ile1254Thr) NC_000002.12:210660488:T:C p.(Ile1254Thr) NC_000002.12:210660488:T:C Identity +NM_001411043.1:c.859G>A NP_001397972.1:p.Asp287Asn NC_000011.10:124922762:C:T p.(Asp287Asn) NC_000011.10:124922762:C:T p.(Asp287Asn) NC_000011.10:124922762:C:T Identity +NM_001363711.2:c.4552G>C NP_001350640.1:p.Gly1518Arg NC_000015.10:45094244:C:G p.(Gly1518Arg) NC_000015.10:45094244:C:G p.(Gly1518Arg) NC_000015.10:45094244:C:G Identity +NM_001350748.2:c.5224G>A NP_001337677.1:p.Gly1742Ser NC_000013.11:101055374:C:T p.(Gly1742Ser) NC_000013.11:101055374:C:T p.(Gly1742Ser) NC_000013.11:101055374:C:T Identity +NM_001146702.2:c.1373A>G NP_001140174.1:p.Tyr458Cys NC_000023.11:53210684:T:C p.(Tyr458Cys) NC_000023.11:53210684:T:C p.(Tyr458Cys) NC_000023.11:53210684:T:C Identity +NM_000052.7:c.2388G>A NP_000043.4:p.Trp796Ter NC_000023.11:78013093:G:A p.(Trp796Ter) NC_000023.11:78013093:G:A p.(Trp796Ter) NC_000023.11:78013093:G:A Identity +NM_001122681.2:c.1255G>A NP_001116153.1:p.Asp419Asn NC_000004.12:2831583:G:A p.(Asp419Asn) NC_000004.12:2831583:G:A p.(Asp419Asn) NC_000004.12:2831583:G:A Identity +NM_001330615.4:c.346dup NP_001317544.2:p.Ala116fs NC_000003.12:12381446:G:GG p.(Ala116GlyfsTer12) NC_000003.12:12381446:G:GG p.(Ala116GlyfsTer12) ERR:SPDI Analogous +NM_003403.5:c.1123C>T NP_003394.1:p.Arg375Ter NC_000014.9:100277477:C:T p.(Arg375Ter) NC_000014.9:100277477:C:T p.(Arg375Ter) NC_000014.9:100277477:C:T Identity +NM_000109.4:c.5622C>G NP_000100.3:p.Tyr1874Ter NC_000023.11:32343226:G:C p.(Tyr1874Ter) NC_000023.11:32343226:G:C p.(Tyr1874Ter) NC_000023.11:32343226:G:C Identity +NM_001171162.1:c.3784C>T NP_001164633.1:p.Arg1262Trp NC_000023.11:71241326:G:A p.(Arg1262Trp) NC_000023.11:71241326:G:A p.(Arg1262Trp) NC_000023.11:71241326:G:A Identity +NM_001316307.2:c.164T>A NP_001303236.1:p.Leu55Gln NC_000017.11:82032766:T:A p.(Leu55Gln) NC_000017.11:82032766:T:A p.(Leu55Gln) NC_000017.11:82032766:T:A Identity +NM_001365999.1:c.5495T>C NP_001352928.1:p.Val1832Ala NC_000001.11:43432568:T:C p.(Val1832Ala) NC_000001.11:43432568:T:C p.(Val1832Ala) NC_000001.11:43432568:T:C Identity +NM_005089.4:c.1120_1121dup NP_005080.1:p.Ser375fs NC_000023.11:15822912:TA:TATA p.(Ser375ThrfsTer?) NC_000023.11:15822912:TA:TATA p.(Ser375ThrfsTer?) ERR:SPDI Analogous +NM_001080547.2:c.202G>A NP_001074016.1:p.Glu68Lys NC_000011.10:47359983:C:T p.(Glu68Lys) NC_000011.10:47359983:C:T p.(Glu68Lys) NC_000011.10:47359983:C:T Identity +NM_015192.4:c.928G>A NP_056007.1:p.Glu310Lys NC_000020.11:8684996:G:A p.(Glu310Lys) NC_000020.11:8684996:G:A p.(Glu310Lys) NC_000020.11:8684996:G:A Identity +NM_001362843.2:c.4564G>C NP_001349772.1:p.Ala1522Pro NC_000022.11:41173646:G:C p.(Ala1522Pro) NC_000022.11:41173646:G:C p.(Ala1522Pro) NC_000022.11:41173646:G:C Identity +NM_000109.4:c.354dup NP_000100.3:p.Ile119fs NC_000023.11:32816619:A:AA p.(Ile119TyrfsTer11) NC_000023.11:32816619:A:AA p.(Ile119TyrfsTer11) ERR:SPDI Analogous +NM_001271.4:c.3780G>C NP_001262.3:p.Glu1260Asp NC_000015.10:92997297:G:C p.(Glu1260Asp) NC_000015.10:92997297:G:C p.(Glu1260Asp) NC_000015.10:92997297:G:C Identity +NM_001371656.1:c.43C>G NP_001358585.1:p.Arg15Gly NC_000006.12:156777722:C:G p.(Arg15Gly) NC_000006.12:156777722:C:G p.(Arg15Gly) NC_000006.12:156777722:C:G Identity +NM_001200001.2:c.1222A>G NP_001186930.1:p.Lys408Glu NC_000001.11:119968118:T:C p.(Lys408Glu) NC_000001.11:119968118:T:C p.(Lys408Glu) NC_000001.11:119968118:T:C Identity +NM_000296.4:c.6340T>C NP_000287.4:p.Tyr2114His NC_000016.10:2108826:A:G p.(Tyr2114His) NC_000016.10:2108826:A:G p.(Tyr2114His) NC_000016.10:2108826:A:G Identity +NM_001382708.1:c.367A>T NP_001369637.1:p.Ile123Phe NC_000002.12:219418828:A:T p.(Ile123Phe) NC_000002.12:219418828:A:T p.(Ile123Phe) NC_000002.12:219418828:A:T Identity +NM_001282489.3:c.853G>T NP_001269418.1:p.Glu285Ter NC_000017.11:74919673:C:A p.(Glu285Ter) NC_000017.11:74919673:C:A p.(Glu285Ter) NC_000017.11:74919673:C:A Identity +NM_001605.3:c.2083C>G NP_001596.2:p.Arg695Gly NC_000016.10:70258126:G:C p.(Arg695Gly) NC_000016.10:70258126:G:C p.(Arg695Gly) NC_000016.10:70258126:G:C Identity +NM_001287819.3:c.2459A>G NP_001274748.1:p.Asn820Ser NC_000001.11:196305297:T:C p.(Asn820Ser) NC_000001.11:196305297:T:C p.(Asn820Ser) NC_000001.11:196305297:T:C Identity +NM_001291415.2:c.946G>A NP_001278344.1:p.Ala316Thr NC_000023.11:45059075:G:A p.(Ala316Thr) NC_000023.11:45059075:G:A p.(Ala316Thr) NC_000023.11:45059075:G:A Identity +NM_002472.3:c.3364G>C NP_002463.2:p.Gly1122Arg NC_000017.11:10400760:C:G p.(Gly1122Arg) NC_000017.11:10400760:C:G p.(Gly1122Arg) NC_000017.11:10400760:C:G Identity +NM_004789.4:c.475A>T NP_004780.3:p.Lys159Ter NC_000009.12:124015272:A:T p.(Lys159Ter) NC_000009.12:124015272:A:T p.(Lys159Ter) NC_000009.12:124015272:A:T Identity +NM_001286445.3:c.657G>T NP_001273374.1:p.Met219Ile NC_000006.12:24861030:C:A p.(Met219Ile) NC_000006.12:24861030:C:A p.(Met219Ile) NC_000006.12:24861030:C:A Identity +NM_000535.7:c.817A>C NP_000526.2:p.Ile273Leu NC_000007.14:5995619:T:G p.(Ile273Leu) NC_000007.14:5995619:T:G p.(Ile273Leu) NC_000007.14:5995619:T:G Identity +NM_001272003.2:c.2935C>A NP_001258932.1:p.Arg979Ser NC_000009.12:135784802:C:A p.(Arg979Ser) NC_000009.12:135784802:C:A p.(Arg979Ser) NC_000009.12:135784802:C:A Identity +NM_001042494.2:c.2918C>G NP_001035959.1:p.Ser973Cys NC_000015.10:34236146:G:C p.(Ser973Cys) NC_000015.10:34236146:G:C p.(Ser973Cys) NC_000015.10:34236146:G:C Identity +NM_001135659.3:c.2951A>T NP_001129131.1:p.Tyr984Phe NC_000002.12:50497380:T:A p.(Tyr984Phe) NC_000002.12:50497380:T:A p.(Tyr984Phe) NC_000002.12:50497380:T:A Identity +NM_004459.7:c.3452_3453del NP_004450.3:p.Glu1151fs NC_000017.11:67910955:AGAG:AG p.(Glu1151ValfsTer17) NC_000017.11:67910955:AGAG:AG p.(Glu1151ValfsTer17) NC_000017.11:67910957:AG: Analogous +NM_001286445.3:c.1370T>A NP_001273374.1:p.Met457Lys NC_000006.12:24843348:A:T p.(Met457Lys) NC_000006.12:24843348:A:T p.(Met457Lys) NC_000006.12:24843348:A:T Identity +NM_144666.3:c.3661A>G NP_653267.2:p.Ser1221Gly NC_000011.10:6544152:A:G p.(Ser1221Gly) NC_000011.10:6544152:A:G p.(Ser1221Gly) NC_000011.10:6544152:A:G Identity +NM_001379226.1:c.2030A>G NP_001366155.1:p.Asp677Gly NC_000011.10:70487125:T:C p.(Asp677Gly) NC_000011.10:70487125:T:C p.(Asp677Gly) NC_000011.10:70487125:T:C Identity +NM_007118.4:c.8364G>A NP_009049.2:p.Trp2788Ter NC_000005.10:14502609:G:A p.(Trp2788Ter) NC_000005.10:14502609:G:A p.(Trp2788Ter) NC_000005.10:14502609:G:A Identity +NM_018451.5:c.3230G>A NP_060921.3:p.Arg1077Gln NC_000013.11:24889386:C:T p.(Arg1077Gln) NC_000013.11:24889386:C:T p.(Arg1077Gln) NC_000013.11:24889386:C:T Identity +NM_001410739.1:c.4396A>G NP_001397668.1:p.Met1466Val NC_000002.12:27447888:T:C p.(Met1466Val) NC_000002.12:27447888:T:C p.(Met1466Val) NC_000002.12:27447888:T:C Identity +NM_001163809.2:c.1615C>T NP_001157281.1:p.Arg539Trp NC_000017.11:1726573:C:T p.(Arg539Trp) NC_000017.11:1726573:C:T p.(Arg539Trp) NC_000017.11:1726573:C:T Identity +NM_001204824.2:c.1990C>T NP_001191753.1:p.Arg664Ter NC_000008.11:132129530:G:A p.(Arg664Ter) NC_000008.11:132129530:G:A p.(Arg664Ter) NC_000008.11:132129530:G:A Identity +NM_016333.4:c.8063C>G NP_057417.3:p.Ser2688Cys NC_000016.10:2770392:C:G p.(Ser2688Cys) NC_000016.10:2770392:C:G p.(Ser2688Cys) NC_000016.10:2770392:C:G Identity +NM_001042544.1:c.720_721del NP_001036009.1:p.Ser241fs NC_000019.10:40605476:GTGTGT:GTGT p.(Ser241TrpfsTer9) NC_000019.10:40605476:GTGTGT:GTGT p.(Ser241TrpfsTer9) NC_000019.10:40605480:GT: Analogous +NM_007118.4:c.1072C>T NP_009049.2:p.His358Tyr NC_000005.10:14293029:C:T p.(His358Tyr) NC_000005.10:14293029:C:T p.(His358Tyr) NC_000005.10:14293029:C:T Identity +NM_001037333.3:c.1355A>T NP_001032410.1:p.Glu452Val NC_000005.10:157315092:A:T p.(Glu452Val) NC_000005.10:157315092:A:T p.(Glu452Val) NC_000005.10:157315092:A:T Identity +NM_001410705.1:c.5302C>G NP_001397634.1:p.Leu1768Val NC_000023.11:153951933:G:C p.(Leu1768Val) NC_000023.11:153951933:G:C p.(Leu1768Val) NC_000023.11:153951933:G:C Identity +NM_001145468.4:c.3046G>A NP_001138940.4:p.Ala1016Thr NC_000022.11:24369278:G:A p.(Ala1016Thr) NC_000022.11:24369278:G:A p.(Ala1016Thr) NC_000022.11:24369278:G:A Identity +NM_001271723.2:c.757C>T NP_001258652.1:p.Pro253Ser NC_000005.10:148406282:C:T p.(Pro253Ser) NC_000005.10:148406282:C:T p.(Pro253Ser) NC_000005.10:148406282:C:T Identity +NM_001305878.2:c.293A>C NP_001292807.1:p.Asp98Ala NC_000008.11:42048684:T:G p.(Asp98Ala) NC_000008.11:42048684:T:G p.(Asp98Ala) NC_000008.11:42048684:T:G Identity +NM_006088.6:c.1075C>T NP_006079.1:p.Arg359Trp NC_000009.12:137243292:C:T p.(Arg359Trp) NC_000009.12:137243292:C:T p.(Arg359Trp) NC_000009.12:137243292:C:T Identity +NM_001357.5:c.1507C>T NP_001348.2:p.Arg503Ter NC_000001.11:182866992:C:T p.(Arg503Ter) NC_000001.11:182866992:C:T p.(Arg503Ter) NC_000001.11:182866992:C:T Identity +NM_001345950.1:c.320G>A NP_001332879.1:p.Cys107Tyr NC_000010.11:102644936:G:A p.(Cys107Tyr) NC_000010.11:102644936:G:A p.(Cys107Tyr) NC_000010.11:102644936:G:A Identity +NM_000068.4:c.6005C>G NP_000059.3:p.Thr2002Arg NC_000019.10:13212693:G:C p.(Thr2002Arg) NC_000019.10:13212693:G:C p.(Thr2002Arg) NC_000019.10:13212693:G:C Identity +NM_144508.5:c.6398C>A NP_653091.3:p.Thr2133Asn NC_000015.10:40652087:C:A p.(Thr2133Asn) NC_000015.10:40652087:C:A p.(Thr2133Asn) NC_000015.10:40652087:C:A Identity +NM_001375318.1:c.3565_3567del NP_001362247.1:p.Gly1189del NC_000009.12:128598971:GGC: p.(Gly1189del) NC_000009.12:128598971:GGC: p.(Gly1189del) NC_000009.12:128598971:GGC: Identity +NM_000721.4:c.395T>C NP_000712.2:p.Ile132Thr NC_000001.11:181511392:T:C p.(Ile132Thr) NC_000001.11:181511392:T:C p.(Ile132Thr) NC_000001.11:181511392:T:C Identity +NM_000138.5:c.3535C>A NP_000129.3:p.Gln1179Lys NC_000015.10:48487128:G:T p.(Gln1179Lys) NC_000015.10:48487128:G:T p.(Gln1179Lys) NC_000015.10:48487128:G:T Identity +NM_000441.2:c.296C>A NP_000432.1:p.Thr99Lys NC_000007.14:107663426:C:A p.(Thr99Lys) NC_000007.14:107663426:C:A p.(Thr99Lys) NC_000007.14:107663426:C:A Identity +NM_001102406.2:c.2243T>C NP_001095876.1:p.Val748Ala NC_000004.12:112431789:T:C p.(Val748Ala) NC_000004.12:112431789:T:C p.(Val748Ala) NC_000004.12:112431789:T:C Identity +NM_001351527.2:c.514A>G NP_001338456.1:p.Ile172Val NC_000009.12:132336499:T:C p.(Ile172Val) NC_000009.12:132336499:T:C p.(Ile172Val) NC_000009.12:132336499:T:C Identity +NM_001144766.3:c.473A>C NP_001138238.1:p.Tyr158Ser NC_000017.11:41989515:T:G p.(Tyr158Ser) NC_000017.11:41989515:T:G p.(Tyr158Ser) NC_000017.11:41989515:T:G Identity +NM_001384900.1:c.1289C>G NP_001371829.1:p.Ser430Cys NC_000007.14:85022515:G:C p.(Ser430Cys) NC_000007.14:85022515:G:C p.(Ser430Cys) NC_000007.14:85022515:G:C Identity +NM_000557.5:c.518T>C NP_000548.2:p.Met173Thr NC_000020.11:35437410:A:G p.(Met173Thr) NC_000020.11:35437410:A:G p.(Met173Thr) NC_000020.11:35437410:A:G Identity +NM_001190709.2:c.2490_2491dup NP_001177638.1:p.Arg831fs NC_000001.11:102979383:GTG:GTGTG p.(Arg831HisfsTer4) NC_000001.11:102979383:GTG:GTGTG p.(Arg831HisfsTer4) ERR:SPDI Analogous +NM_003356.4:c.763A>T NP_003347.1:p.Ser255Cys NC_000011.10:74003887:T:A p.(Ser255Cys) NC_000011.10:74003887:T:A p.(Ser255Cys) NC_000011.10:74003887:T:A Identity +NM_001330609.2:c.665del NP_001317538.1:p.Asn222fs NC_000008.11:125073193:TT:T p.(Asn222MetfsTer7) NC_000008.11:125073193:TT:T p.(Asn222MetfsTer7) NC_000008.11:125073193:T: Analogous +NM_000939.4:c.343C>G NP_000930.1:p.Pro115Ala NC_000002.12:25161541:G:C p.(Pro115Ala) NC_000002.12:25161541:G:C p.(Pro115Ala) NC_000002.12:25161541:G:C Identity +NM_144999.4:c.1259_1263del NP_659436.1:p.Arg420fs NC_000017.11:82028626:GAGAAGAGAAGA:GAGAAGA p.(Arg420MetfsTer27) NC_000017.11:82028626:GAGAAGAGAAGA:GAGAAGA p.(Arg420MetfsTer27) NC_000017.11:82028633:GAAGA: Analogous +NM_016248.4:c.3643G>C NP_057332.1:p.Ala1215Pro NC_000013.11:42302388:G:C p.(Ala1215Pro) NC_000013.11:42302388:G:C p.(Ala1215Pro) NC_000013.11:42302388:G:C Identity +NM_002641.4:c.910A>G NP_002632.1:p.Ile304Val NC_000023.11:15325090:T:C p.(Ile304Val) NC_000023.11:15325090:T:C p.(Ile304Val) NC_000023.11:15325090:T:C Identity +NM_000548.5:c.2663T>G NP_000539.2:p.Leu888Arg NC_000016.10:2076090:T:G p.(Leu888Arg) NC_000016.10:2076090:T:G p.(Leu888Arg) NC_000016.10:2076090:T:G Identity +NM_001142364.1:c.236G>A NP_001135836.1:p.Arg79Gln NC_000013.11:36995426:C:T p.(Arg79Gln) NC_000013.11:36995426:C:T p.(Arg79Gln) NC_000013.11:36995426:C:T Identity +NM_001130020.3:c.1220C>T NP_001123492.1:p.Pro407Leu NC_000017.11:42494357:C:T p.(Pro407Leu) NC_000017.11:42494357:C:T p.(Pro407Leu) NC_000017.11:42494357:C:T Identity +NM_001352017.2:c.117C>G NP_001338946.1:p.His39Gln NC_000016.10:879698:G:C p.(His39Gln) NC_000016.10:879698:G:C p.(His39Gln) NC_000016.10:879698:G:C Identity +NM_017633.3:c.82G>A NP_060103.2:p.Gly28Ser NC_000006.12:81752059:C:T p.(Gly28Ser) NC_000006.12:81752059:C:T p.(Gly28Ser) NC_000006.12:81752059:C:T Identity +NM_001102.4:c.2291G>A NP_001093.1:p.Gly764Asp NC_000014.9:68879058:C:T p.(Gly764Asp) NC_000014.9:68879058:C:T p.(Gly764Asp) NC_000014.9:68879058:C:T Identity +NM_001318502.2:c.76C>G NP_001305431.1:p.Gln26Glu NC_000009.12:136439343:G:C p.(Gln26Glu) NC_000009.12:136439343:G:C p.(Gln26Glu) NC_000009.12:136439343:G:C Identity +NM_001042692.3:c.1063G>A NP_001036157.1:p.Asp355Asn NC_000002.12:63381989:C:T p.(Asp355Asn) NC_000002.12:63381989:C:T p.(Asp355Asn) NC_000002.12:63381989:C:T Identity +NM_001277115.2:c.4004A>C NP_001264044.1:p.Tyr1335Ser NC_000007.14:21615264:A:C p.(Tyr1335Ser) NC_000007.14:21615264:A:C p.(Tyr1335Ser) NC_000007.14:21615264:A:C Identity +NM_173602.3:c.4694A>G NP_775873.2:p.Asp1565Gly NC_000012.12:50744801:A:G p.(Asp1565Gly) NC_000012.12:50744801:A:G p.(Asp1565Gly) NC_000012.12:50744801:A:G Identity +NM_133379.5:c.13978C>A NP_596870.2:p.His4660Asn NC_000002.12:178748421:G:T p.(His4660Asn) NC_000002.12:178748421:G:T p.(His4660Asn) NC_000002.12:178748421:G:T Identity +NM_031407.7:c.5681G>A NP_113584.3:p.Arg1894His NC_000023.11:53580865:C:T p.(Arg1894His) NC_000023.11:53580865:C:T p.(Arg1894His) NC_000023.11:53580865:C:T Identity +NM_000552.5:c.6689A>G NP_000543.3:p.His2230Arg NC_000012.12:5991927:T:C p.(His2230Arg) NC_000012.12:5991927:T:C p.(His2230Arg) NC_000012.12:5991927:T:C Identity +NM_004229.4:c.635T>A NP_004220.2:p.Leu212Ter NC_000023.11:40713794:A:T p.(Leu212Ter) NC_000023.11:40713794:A:T p.(Leu212Ter) NC_000023.11:40713794:A:T Identity +NM_025114.4:c.5639A>C NP_079390.3:p.Lys1880Thr NC_000012.12:88077291:T:G p.(Lys1880Thr) NC_000012.12:88077291:T:G p.(Lys1880Thr) NC_000012.12:88077291:T:G Identity +NM_001330504.2:c.816_817delinsT NP_001317433.1:p.Cys274fs NC_000016.10:5082634:CG:T p.(Cys274AlafsTer8) NC_000016.10:5082634:CG:T p.(Cys274AlafsTer8) NC_000016.10:5082634:CG:T Analogous +NM_019074.4:c.1862C>T NP_061947.1:p.Pro621Leu NC_000015.10:40936848:C:T p.(Pro621Leu) NC_000015.10:40936848:C:T p.(Pro621Leu) NC_000015.10:40936848:C:T Identity +NM_000235.4:c.529_530del NP_000226.2:p.Thr177fs NC_000010.11:89226902:GTG:G p.(Thr177HisfsTer12) NC_000010.11:89226902:GTG:G p.(Thr177HisfsTer12) NC_000010.11:89226902:GT: Analogous +NM_001394062.1:c.2252C>G NP_001380991.1:p.Thr751Arg NC_000001.11:39295142:C:G p.(Thr751Arg) NC_000001.11:39295142:C:G p.(Thr751Arg) NC_000001.11:39295142:C:G Identity +NM_032242.4:c.2996G>A NP_115618.3:p.Arg999Gln NC_000003.12:127015301:G:A p.(Arg999Gln) NC_000003.12:127015301:G:A p.(Arg999Gln) NC_000003.12:127015301:G:A Identity +NM_003872.3:c.1252A>G NP_003863.2:p.Ile418Val NC_000002.12:205740623:A:G p.(Ile418Val) NC_000002.12:205740623:A:G p.(Ile418Val) NC_000002.12:205740623:A:G Identity +NM_001278552.2:c.314A>G NP_001265481.1:p.Asp105Gly NC_000002.12:219251580:T:C p.(Asp105Gly) NC_000002.12:219251580:T:C p.(Asp105Gly) NC_000002.12:219251580:T:C Identity +NM_003356.4:c.248C>T NP_003347.1:p.Ala83Val NC_000011.10:74006257:G:A p.(Ala83Val) NC_000011.10:74006257:G:A p.(Ala83Val) NC_000011.10:74006257:G:A Identity +NM_001410739.1:c.868A>G NP_001397668.1:p.Thr290Ala NC_000002.12:27480066:T:C p.(Thr290Ala) NC_000002.12:27480066:T:C p.(Thr290Ala) NC_000002.12:27480066:T:C Identity +NM_001301243.2:c.313G>A NP_001288172.1:p.Gly105Ser NC_000017.11:81869502:C:T p.(Gly105Ser) NC_000017.11:81869502:C:T p.(Gly105Ser) NC_000017.11:81869502:C:T Identity +NM_000868.4:c.862C>T NP_000859.2:p.Arg288Ter NC_000023.11:114906899:C:T p.(Arg288Ter) NC_000023.11:114906899:C:T p.(Arg288Ter) NC_000023.11:114906899:C:T Identity +NM_001003679.3:c.1960A>G NP_001003679.1:p.Met654Val NC_000001.11:65610260:A:G p.(Met654Val) NC_000001.11:65610260:A:G p.(Met654Val) NC_000001.11:65610260:A:G Identity +NM_032242.4:c.2993G>A NP_115618.3:p.Gly998Asp NC_000003.12:127015298:G:A p.(Gly998Asp) NC_000003.12:127015298:G:A p.(Gly998Asp) NC_000003.12:127015298:G:A Identity +NM_001252678.2:c.176A>G NP_001239607.1:p.Tyr59Cys NC_000015.10:72729664:A:G p.(Tyr59Cys) NC_000015.10:72729664:A:G p.(Tyr59Cys) NC_000015.10:72729664:A:G Identity +NM_001288781.1:c.56A>C NP_001275710.1:p.Lys19Thr NC_000014.9:88824762:A:C p.(Lys19Thr) NC_000014.9:88824762:A:C p.(Lys19Thr) NC_000014.9:88824762:A:C Identity +NM_001410739.1:c.3615G>C NP_001397668.1:p.Gln1205His NC_000002.12:27454011:C:G p.(Gln1205His) NC_000002.12:27454011:C:G p.(Gln1205His) NC_000002.12:27454011:C:G Identity +NM_173598.6:c.179A>C NP_775869.4:p.Glu60Ala NC_000012.12:117968076:T:G p.(Glu60Ala) NC_000012.12:117968076:T:G p.(Glu60Ala) NC_000012.12:117968076:T:G Identity +NM_001040108.2:c.2542G>C NP_001035197.1:p.Glu848Gln NC_000014.9:75047113:C:G p.(Glu848Gln) NC_000014.9:75047113:C:G p.(Glu848Gln) NC_000014.9:75047113:C:G Identity +NM_001127222.2:c.7469C>A NP_001120694.1:p.Ser2490Tyr NC_000019.10:13207364:G:T p.(Ser2490Tyr) NC_000019.10:13207364:G:T p.(Ser2490Tyr) NC_000019.10:13207364:G:T Identity +NM_003872.3:c.2633G>T NP_003863.2:p.Cys878Phe NC_000002.12:205794909:G:T p.(Cys878Phe) NC_000002.12:205794909:G:T p.(Cys878Phe) NC_000002.12:205794909:G:T Identity +NM_032242.4:c.2053G>C NP_115618.3:p.Val685Leu NC_000003.12:127007853:G:C p.(Val685Leu) NC_000003.12:127007853:G:C p.(Val685Leu) NC_000003.12:127007853:G:C Identity +NM_004915.4:c.1954T>C NP_004906.3:p.Phe652Leu NC_000021.9:42296308:T:C p.(Phe652Leu) NC_000021.9:42296308:T:C p.(Phe652Leu) NC_000021.9:42296308:T:C Identity +NM_001099222.3:c.1508A>C NP_001092692.1:p.Gln503Pro NC_000009.12:27056343:A:C p.(Gln503Pro) NC_000009.12:27056343:A:C p.(Gln503Pro) NC_000009.12:27056343:A:C Identity +NM_001393897.1:c.2311G>A NP_001380826.1:p.Gly771Arg NC_000007.14:132203406:C:T p.(Gly771Arg) NC_000007.14:132203406:C:T p.(Gly771Arg) NC_000007.14:132203406:C:T Identity +NM_001194954.2:c.403C>T NP_001181883.1:p.Pro135Ser NC_000005.10:139307817:C:T p.(Pro135Ser) NC_000005.10:139307817:C:T p.(Pro135Ser) NC_000005.10:139307817:C:T Identity +NM_032242.4:c.2201A>G NP_115618.3:p.Gln734Arg NC_000003.12:127012045:A:G p.(Gln734Arg) NC_000003.12:127012045:A:G p.(Gln734Arg) NC_000003.12:127012045:A:G Identity +NM_001330609.2:c.3018G>T NP_001317538.1:p.Glu1006Asp NC_000008.11:125024634:C:A p.(Glu1006Asp) NC_000008.11:125024634:C:A p.(Glu1006Asp) NC_000008.11:125024634:C:A Identity +NM_001378414.1:c.2378G>A NP_001365343.1:p.Gly793Glu NC_000002.12:239090018:C:T p.(Gly793Glu) NC_000002.12:239090018:C:T p.(Gly793Glu) NC_000002.12:239090018:C:T Identity +NM_003620.4:c.1403C>A NP_003611.1:p.Ser468Ter NC_000017.11:60663136:C:A p.(Ser468Ter) NC_000017.11:60663136:C:A p.(Ser468Ter) NC_000017.11:60663136:C:A Identity +NM_001127208.3:c.3284G>A NP_001120680.1:p.Arg1095Lys NC_000004.12:105237225:G:A p.(Arg1095Lys) NC_000004.12:105237225:G:A p.(Arg1095Lys) NC_000004.12:105237225:G:A Identity +NM_001142301.1:c.413T>C NP_001135773.1:p.Met138Thr NC_000008.11:93772592:T:C p.(Met138Thr) NC_000008.11:93772592:T:C p.(Met138Thr) NC_000008.11:93772592:T:C Identity +NM_001378454.1:c.8137A>G NP_001365383.1:p.Thr2713Ala NC_000002.12:73490095:A:G p.(Thr2713Ala) NC_000002.12:73490095:A:G p.(Thr2713Ala) NC_000002.12:73490095:A:G Identity +NM_017514.5:c.3700G>A NP_059984.3:p.Ala1234Thr NC_000023.11:154467880:G:A p.(Ala1234Thr) NC_000023.11:154467880:G:A p.(Ala1234Thr) NC_000023.11:154467880:G:A Identity +NM_006080.3:c.1991C>G NP_006071.1:p.Thr664Ser NC_000007.14:83961695:G:C p.(Thr664Ser) NC_000007.14:83961695:G:C p.(Thr664Ser) NC_000007.14:83961695:G:C Identity +NM_000939.4:c.296del NP_000930.1:p.Gly99fs NC_000002.12:25161588:CC:C p.(Gly99AlafsTer59) NC_000002.12:25161588:CC:C p.(Gly99AlafsTer59) NC_000002.12:25161588:C: Analogous +NM_005560.6:c.7373C>T NP_005551.3:p.Ala2458Val NC_000020.11:62317482:G:A p.(Ala2458Val) NC_000020.11:62317482:G:A p.(Ala2458Val) NC_000020.11:62317482:G:A Identity +NM_001172129.3:c.631G>A NP_001165600.1:p.Gly211Arg NC_000020.11:32084401:G:A p.(Gly211Arg) NC_000020.11:32084401:G:A p.(Gly211Arg) NC_000020.11:32084401:G:A Identity +NM_000296.4:c.3779T>G NP_000287.4:p.Val1260Gly NC_000016.10:2111387:A:C p.(Val1260Gly) NC_000016.10:2111387:A:C p.(Val1260Gly) NC_000016.10:2111387:A:C Identity +NM_001378454.1:c.2564C>T NP_001365383.1:p.Ser855Phe NC_000002.12:73449090:C:T p.(Ser855Phe) NC_000002.12:73449090:C:T p.(Ser855Phe) NC_000002.12:73449090:C:T Identity +NM_001105543.2:c.43C>A NP_001099013.1:p.Leu15Ile NC_000007.14:132508650:G:T p.(Leu15Ile) NC_000007.14:132508650:G:T p.(Leu15Ile) NC_000007.14:132508650:G:T Identity +NM_000497.4:c.783C>G NP_000488.3:p.Asp261Glu NC_000008.11:142876697:G:C p.(Asp261Glu) NC_000008.11:142876697:G:C p.(Asp261Glu) NC_000008.11:142876697:G:C Identity +NM_020982.4:c.385G>A NP_066192.1:p.Gly129Ser NC_000016.10:3013746:G:A p.(Gly129Ser) NC_000016.10:3013746:G:A p.(Gly129Ser) NC_000016.10:3013746:G:A Identity +NM_001003679.3:c.26T>C NP_001003679.1:p.Val9Ala NC_000001.11:65565590:T:C p.(Val9Ala) NC_000001.11:65565590:T:C p.(Val9Ala) NC_000001.11:65565590:T:C Identity +NM_001378454.1:c.439G>A NP_001365383.1:p.Gly147Arg NC_000002.12:73408735:G:A p.(Gly147Arg) NC_000002.12:73408735:G:A p.(Gly147Arg) NC_000002.12:73408735:G:A Identity +NM_001003698.4:c.3853C>G NP_001003698.1:p.Leu1285Val NC_000006.12:7246467:C:G p.(Leu1285Val) NC_000006.12:7246467:C:G p.(Leu1285Val) NC_000006.12:7246467:C:G Identity +NM_001315529.2:c.731G>A NP_001302458.1:p.Arg244His NC_000021.9:46349063:G:A p.(Arg244His) NC_000021.9:46349063:G:A p.(Arg244His) NC_000021.9:46349063:G:A Identity +NM_001384900.1:c.2170A>G NP_001371829.1:p.Asn724Asp NC_000007.14:84999603:T:C p.(Asn724Asp) NC_000007.14:84999603:T:C p.(Asn724Asp) NC_000007.14:84999603:T:C Identity +NM_015384.5:c.5201C>T NP_056199.2:p.Thr1734Ile NC_000005.10:37020648:C:T p.(Thr1734Ile) NC_000005.10:37020648:C:T p.(Thr1734Ile) NC_000005.10:37020648:C:T Identity +NM_031407.7:c.12860C>A NP_113584.3:p.Ser4287Tyr NC_000023.11:53534168:G:T p.(Ser4287Tyr) NC_000023.11:53534168:G:T p.(Ser4287Tyr) NC_000023.11:53534168:G:T Identity +NM_007129.5:c.976G>T NP_009060.2:p.Val326Leu NC_000013.11:99983039:G:T p.(Val326Leu) NC_000013.11:99983039:G:T p.(Val326Leu) NC_000013.11:99983039:G:T Identity +NM_001363505.2:c.714_715insATAACACTGTTATGGT NP_001350434.1:p.Val239fs NC_000011.10:102083169:CACTGTTATGGT:CACTGTTATGGTATAACACTGTTATGGT p.(Val239IlefsTer30) NC_000011.10:102083180:T:ATAACACTGTTATGGT p.(Val239IlefsTer30) NC_000011.10:102083181:TG:ATAACACTGTTATGGT Analogous +NM_001099222.3:c.830T>C NP_001092692.1:p.Leu277Pro NC_000009.12:27016946:T:C p.(Leu277Pro) NC_000009.12:27016946:T:C p.(Leu277Pro) NC_000009.12:27016946:T:C Identity +NM_004714.3:c.1556G>T NP_004705.1:p.Gly519Val NC_000019.10:39826048:C:A p.(Gly519Val) NC_000019.10:39826048:C:A p.(Gly519Val) NC_000019.10:39826048:C:A Identity +NM_001374769.1:c.1204C>A NP_001361698.1:p.His402Asn NC_000006.12:100393852:G:T p.(His402Asn) NC_000006.12:100393852:G:T p.(His402Asn) NC_000006.12:100393852:G:T Identity +NM_018848.3:c.1487A>G NP_061336.1:p.Gln496Arg NC_000020.11:10405472:T:C p.(Gln496Arg) NC_000020.11:10405472:T:C p.(Gln496Arg) NC_000020.11:10405472:T:C Identity +NM_138694.4:c.1817G>T NP_619639.3:p.Arg606Leu NC_000006.12:52055605:C:A p.(Arg606Leu) NC_000006.12:52055605:C:A p.(Arg606Leu) NC_000006.12:52055605:C:A Identity +NM_001315529.2:c.1552C>T NP_001302458.1:p.Arg518Cys NC_000021.9:46355595:C:T p.(Arg518Cys) NC_000021.9:46355595:C:T p.(Arg518Cys) NC_000021.9:46355595:C:T Identity +NM_001384900.1:c.517A>G NP_001371829.1:p.Thr173Ala NC_000007.14:85068262:T:C p.(Thr173Ala) NC_000007.14:85068262:T:C p.(Thr173Ala) NC_000007.14:85068262:T:C Identity +NM_001102401.4:c.857A>G NP_001095871.1:p.Tyr286Cys NC_000008.11:33507298:T:C p.(Tyr286Cys) NC_000008.11:33507298:T:C p.(Tyr286Cys) NC_000008.11:33507298:T:C Identity +NM_144666.3:c.12393del NP_653267.2:p.Trp4132fs NC_000011.10:6568095:CC:C p.(Trp4132GlyfsTer28) NC_000011.10:6568095:CC:C p.(Trp4132GlyfsTer28) NC_000011.10:6568096:C: Analogous +NM_001413913.1:c.1060G>A NP_001400842.1:p.Glu354Lys NC_000012.12:11884497:G:A p.(Glu354Lys) NC_000012.12:11884497:G:A p.(Glu354Lys) NC_000012.12:11884497:G:A Identity +NM_001098209.2:c.1459C>T NP_001091679.1:p.Leu487Phe NC_000003.12:41233801:C:T p.(Leu487Phe) NC_000003.12:41233801:C:T p.(Leu487Phe) NC_000003.12:41233801:C:T Identity +NM_001291285.3:c.11695T>C NP_001278214.1:p.Cys3899Arg NC_000004.12:125452704:T:C p.(Cys3899Arg) NC_000004.12:125452704:T:C p.(Cys3899Arg) NC_000004.12:125452704:T:C Identity +NM_025074.7:c.11839C>T NP_079350.5:p.Pro3947Ser NC_000004.12:78540923:C:T p.(Pro3947Ser) NC_000004.12:78540923:C:T p.(Pro3947Ser) NC_000004.12:78540923:C:T Identity +NM_001353345.2:c.770C>T NP_001340274.1:p.Ala257Val NC_000012.12:121809714:C:T p.(Ala257Val) NC_000012.12:121809714:C:T p.(Ala257Val) NC_000012.12:121809714:C:T Identity +NM_001099222.3:c.549A>C NP_001092692.1:p.Glu183Asp NC_000009.12:26990156:A:C p.(Glu183Asp) NC_000009.12:26990156:A:C p.(Glu183Asp) NC_000009.12:26990156:A:C Identity +NM_000037.4:c.3781A>G NP_000028.3:p.Met1261Val NC_000008.11:41692724:T:C p.(Met1261Val) NC_000008.11:41692724:T:C p.(Met1261Val) NC_000008.11:41692724:T:C Identity +NM_001379226.1:c.544G>C NP_001366155.1:p.Gly182Arg NC_000011.10:70798538:C:G p.(Gly182Arg) NC_000011.10:70798538:C:G p.(Gly182Arg) NC_000011.10:70798538:C:G Identity +NM_178140.4:c.3598A>C NP_835260.2:p.Ser1200Arg NC_000005.10:32077521:A:C p.(Ser1200Arg) NC_000005.10:32077521:A:C p.(Ser1200Arg) NC_000005.10:32077521:A:C Identity +NM_001318502.2:c.1897_1898del NP_001305431.1:p.Gln634fs NC_000009.12:136429708:CTCT:CT p.(Gln634GlufsTer62) NC_000009.12:136429708:CTCT:CT p.(Gln634GlufsTer62) NC_000009.12:136429708:CT: Analogous +NM_001080479.3:c.3552G>C NP_001073948.2:p.Gln1184His NC_000005.10:73892215:G:C p.(Gln1184His) NC_000005.10:73892215:G:C p.(Gln1184His) NC_000005.10:73892215:G:C Identity +NM_000093.5:c.827A>G NP_000084.3:p.Glu276Gly NC_000009.12:134728709:A:G p.(Glu276Gly) NC_000009.12:134728709:A:G p.(Glu276Gly) NC_000009.12:134728709:A:G Identity +NM_001171653.2:c.43C>G NP_001165124.1:p.Arg15Gly NC_000002.12:144517307:G:C p.(Arg15Gly) NC_000002.12:144517307:G:C p.(Arg15Gly) NC_000002.12:144517307:G:C Identity +NM_032242.4:c.5567A>G NP_115618.3:p.Tyr1856Cys NC_000003.12:127032807:A:G p.(Tyr1856Cys) NC_000003.12:127032807:A:G p.(Tyr1856Cys) NC_000003.12:127032807:A:G Identity +NM_001256850.1:c.61594G>C NP_001243779.1:p.Val20532Leu NC_000002.12:178581750:C:G p.(Val20532Leu) NC_000002.12:178581750:C:G p.(Val20532Leu) NC_000002.12:178581750:C:G Identity +NM_001194946.2:c.1496C>T NP_001181875.2:p.Pro499Leu NC_000003.12:184322058:C:T p.(Pro499Leu) NC_000003.12:184322058:C:T p.(Pro499Leu) NC_000003.12:184322058:C:T Identity +NM_001372.4:c.13061C>T NP_001363.2:p.Ser4354Leu NC_000017.11:11962083:C:T p.(Ser4354Leu) NC_000017.11:11962083:C:T p.(Ser4354Leu) NC_000017.11:11962083:C:T Identity +NM_001425116.1:c.1071_1080dup NP_001412045.1:p.Thr361fs NC_000011.10:71435760:AGCCCACCAG:AGCCCACCAGAGCCCACCAG p.(Thr361LeufsTer132) NC_000011.10:71435760:AGCCCACCAG:AGCCCACCAGAGCCCACCAG p.(Thr361LeufsTer132) ERR:SPDI Analogous +NM_001098398.2:c.979_980delinsAT NP_001091868.1:p.Ala327Ile NC_000001.11:160311963:GC:AT p.(Ala327Ile) NC_000001.11:160311963:GC:AT p.(Ala327Ile) NC_000001.11:160311963:GC:AT Identity +NM_017890.5:c.9337A>G NP_060360.3:p.Asn3113Asp NC_000008.11:99823909:A:G p.(Asn3113Asp) NC_000008.11:99823909:A:G p.(Asn3113Asp) NC_000008.11:99823909:A:G Identity +NM_000532.5:c.236TTG[1] NP_000523.2:p.Val80del NC_000003.12:136255907:TTGTTG:TTG p.(Val80del) NC_000003.12:136255907:T:TTG ERR:Parse ERR:Parse Identity +NM_021076.4:c.1511C>A NP_066554.2:p.Pro504His NC_000022.11:29489150:C:A p.(Pro504His) NC_000022.11:29489150:C:A p.(Pro504His) NC_000022.11:29489150:C:A Identity +NM_021969.3:c.317C>T NP_068804.1:p.Thr106Ile NC_000001.11:26913623:G:A p.(Thr106Ile) NC_000001.11:26913623:G:A p.(Thr106Ile) NC_000001.11:26913623:G:A Identity +NM_001130438.3:c.6246G>T NP_001123910.1:p.Lys2082Asn NC_000009.12:128625944:G:T p.(Lys2082Asn) NC_000009.12:128625944:G:T p.(Lys2082Asn) NC_000009.12:128625944:G:T Identity +NM_017890.5:c.3404A>G NP_060360.3:p.Gln1135Arg NC_000008.11:99442593:A:G p.(Gln1135Arg) NC_000008.11:99442593:A:G p.(Gln1135Arg) NC_000008.11:99442593:A:G Identity +NM_002919.4:c.2028C>G NP_002910.1:p.His676Gln NC_000009.12:3247971:G:C p.(His676Gln) NC_000009.12:3247971:G:C p.(His676Gln) NC_000009.12:3247971:G:C Identity +NM_152672.6:c.278C>G NP_689885.4:p.Ser93Trp NC_000003.12:196227108:C:G p.(Ser93Trp) NC_000003.12:196227108:C:G p.(Ser93Trp) NC_000003.12:196227108:C:G Identity +NM_001145795.2:c.196C>T NP_001139267.1:p.Arg66Cys NC_000016.10:28866289:C:T p.(Arg66Cys) NC_000016.10:28866289:C:T p.(Arg66Cys) NC_000016.10:28866289:C:T Identity +NM_025179.4:c.3416A>C NP_079455.3:p.Tyr1139Ser NC_000001.11:208045956:T:G p.(Tyr1139Ser) NC_000001.11:208045956:T:G p.(Tyr1139Ser) NC_000001.11:208045956:T:G Identity +NM_025114.4:c.4096G>C NP_079390.3:p.Val1366Leu NC_000012.12:88087877:C:G p.(Val1366Leu) NC_000012.12:88087877:C:G p.(Val1366Leu) NC_000012.12:88087877:C:G Identity +NM_001142966.3:c.5073T>A NP_001136438.1:p.His1691Gln NC_000018.10:21515587:T:A p.(His1691Gln) NC_000018.10:21515587:T:A p.(His1691Gln) NC_000018.10:21515587:T:A Identity +NM_001042692.3:c.1711C>A NP_001036157.1:p.Gln571Lys NC_000002.12:63152915:G:T p.(Gln571Lys) NC_000002.12:63152915:G:T p.(Gln571Lys) NC_000002.12:63152915:G:T Identity +NM_001281428.2:c.73del NP_001268357.1:p.Arg25fs NC_000009.12:34483471:A: p.(Arg25GlyfsTer33) NC_000009.12:34483471:A: p.(Arg25GlyfsTer33) NC_000009.12:34483471:A: Analogous +NM_001197104.2:c.5504C>T NP_001184033.1:p.Pro1835Leu NC_000011.10:118495839:C:T p.(Pro1835Leu) NC_000011.10:118495839:C:T p.(Pro1835Leu) NC_000011.10:118495839:C:T Identity +NM_001177984.3:c.782G>T NP_001171455.1:p.Cys261Phe NC_000012.12:51699644:G:T p.(Cys261Phe) NC_000012.12:51699644:G:T p.(Cys261Phe) NC_000012.12:51699644:G:T Identity +NM_000334.4:c.5045C>A NP_000325.4:p.Ala1682Asp NC_000017.11:63941236:G:T p.(Ala1682Asp) NC_000017.11:63941236:G:T p.(Ala1682Asp) NC_000017.11:63941236:G:T Identity +NM_004714.3:c.1585C>T NP_004705.1:p.Pro529Ser NC_000019.10:39826019:G:A p.(Pro529Ser) NC_000019.10:39826019:G:A p.(Pro529Ser) NC_000019.10:39826019:G:A Identity +NM_001379081.2:c.1562C>T NP_001366010.1:p.Pro521Leu NC_000009.12:14842491:G:A p.(Pro521Leu) NC_000009.12:14842491:G:A p.(Pro521Leu) NC_000009.12:14842491:G:A Identity +NM_001040439.2:c.2615T>A NP_001035529.1:p.Val872Glu NC_000016.10:1766225:T:A p.(Val872Glu) NC_000016.10:1766225:T:A p.(Val872Glu) NC_000016.10:1766225:T:A Identity +NM_001321225.2:c.3449G>A NP_001308154.1:p.Cys1150Tyr NC_000023.11:48824024:G:A p.(Cys1150Tyr) NC_000023.11:48824024:G:A p.(Cys1150Tyr) NC_000023.11:48824024:G:A Identity +NM_001425142.1:c.371G>C NP_001412071.1:p.Gly124Ala NC_000014.9:60648818:C:G p.(Gly124Ala) NC_000014.9:60648818:C:G p.(Gly124Ala) NC_000014.9:60648818:C:G Identity +NM_000702.4:c.1147C>A NP_000693.1:p.Arg383Ser NC_000001.11:160128780:C:A p.(Arg383Ser) NC_000001.11:160128780:C:A p.(Arg383Ser) NC_000001.11:160128780:C:A Identity +NM_001384900.1:c.2039C>T NP_001371829.1:p.Thr680Ile NC_000007.14:84999734:G:A p.(Thr680Ile) NC_000007.14:84999734:G:A p.(Thr680Ile) NC_000007.14:84999734:G:A Identity +NM_001098175.2:c.593A>G NP_001091645.1:p.Gln198Arg NC_000010.11:95844633:A:G p.(Gln198Arg) NC_000010.11:95844633:A:G p.(Gln198Arg) NC_000010.11:95844633:A:G Identity +NM_001302769.2:c.742T>G NP_001289698.1:p.Phe248Val NC_000002.12:205118981:T:G p.(Phe248Val) NC_000002.12:205118981:T:G p.(Phe248Val) NC_000002.12:205118981:T:G Identity +NM_001354663.2:c.1734dup NP_001341592.1:p.Glu579fs NC_000003.12:193657166:AAA:AAAA p.(Glu579ArgfsTer4) NC_000003.12:193657166:AAA:AAAA p.(Glu579ArgfsTer4) ERR:SPDI Analogous +NM_001378454.1:c.55G>T NP_001365383.1:p.Glu19Ter NC_000002.12:73385922:G:T p.(Glu19Ter) NC_000002.12:73385922:G:T p.(Glu19Ter) NC_000002.12:73385922:G:T Identity +NM_001362950.1:c.3483G>T NP_001349879.1:p.Gln1161His NC_000002.12:24741962:G:T p.(Gln1161His) NC_000002.12:24741962:G:T p.(Gln1161His) NC_000002.12:24741962:G:T Identity +NM_025179.4:c.2858A>G NP_079455.3:p.Asn953Ser NC_000001.11:208052461:T:C p.(Asn953Ser) NC_000001.11:208052461:T:C p.(Asn953Ser) NC_000001.11:208052461:T:C Identity +NM_001301227.2:c.636_637dup NP_001288156.1:p.Glu213fs NC_000009.12:35685065:CC:CCCC p.(Glu213GlyfsTer21) NC_000009.12:35685065:CC:CCCC p.(Glu213GlyfsTer21) ERR:SPDI Analogous +NM_138801.3:c.62A>G NP_620156.1:p.Lys21Arg NC_000002.12:38666222:A:G p.(Lys21Arg) NC_000002.12:38666222:A:G p.(Lys21Arg) NC_000002.12:38666222:A:G Identity +NM_015180.6:c.1838T>A NP_055995.4:p.Val613Glu NC_000014.9:63982630:T:A p.(Val613Glu) NC_000014.9:63982630:T:A p.(Val613Glu) NC_000014.9:63982630:T:A Identity +NM_001256182.2:c.7852G>C NP_001243111.1:p.Ala2618Pro NC_000016.10:89268617:C:G p.(Ala2618Pro) NC_000016.10:89268617:C:G p.(Ala2618Pro) NC_000016.10:89268617:C:G Identity +NM_001257293.2:c.226_227del NP_001244222.1:p.Glu76fs NC_000005.10:179621267:TCTCT:TCT p.(Glu76AsnfsTer8) NC_000005.10:179621267:TCTCT:TCT p.(Glu76AsnfsTer8) NC_000005.10:179621267:TC: Analogous +NM_025193.4:c.580A>G NP_079469.2:p.Ile194Val NC_000016.10:30986887:A:G p.(Ile194Val) NC_000016.10:30986887:A:G p.(Ile194Val) NC_000016.10:30986887:A:G Identity +NM_000743.5:c.518dup NP_000734.2:p.Cys173fs NC_000015.10:78602123:C:CC p.(Cys173TrpfsTer12) NC_000015.10:78602123:C:CC p.(Cys173TrpfsTer12) ERR:SPDI Analogous +NM_002471.4:c.5341C>G NP_002462.2:p.Leu1781Val NC_000014.9:23384665:G:C p.(Leu1781Val) NC_000014.9:23384665:G:C p.(Leu1781Val) NC_000014.9:23384665:G:C Identity +NM_001256012.3:c.3878A>G NP_001242941.1:p.Gln1293Arg NC_000017.11:8499342:T:C p.(Gln1293Arg) NC_000017.11:8499342:T:C p.(Gln1293Arg) NC_000017.11:8499342:T:C Identity +NM_001244580.2:c.1857C>A NP_001231509.1:p.Asn619Lys NC_000007.14:98911120:C:A p.(Asn619Lys) NC_000007.14:98911120:C:A p.(Asn619Lys) NC_000007.14:98911120:C:A Identity +NM_001080421.3:c.1602C>G NP_001073890.2:p.Asn534Lys NC_000019.10:17648644:G:C p.(Asn534Lys) NC_000019.10:17648644:G:C p.(Asn534Lys) NC_000019.10:17648644:G:C Identity +NM_001413184.1:c.1174A>G NP_001400113.1:p.Arg392Gly NC_000008.11:67277310:T:C p.(Arg392Gly) NC_000008.11:67277310:T:C p.(Arg392Gly) NC_000008.11:67277310:T:C Identity +NM_001128608.2:c.4114C>G NP_001122080.1:p.Gln1372Glu NC_000015.10:41823943:C:G p.(Gln1372Glu) NC_000015.10:41823943:C:G p.(Gln1372Glu) NC_000015.10:41823943:C:G Identity +NM_001167579.2:c.778_809delinsAGC NP_001161051.1:p.Gly260fs NC_000005.10:177388126:GGCCGTGATGCTCCTGACCTGCTCAAGATCAT:AGC p.(Gly260SerfsTer24) NC_000005.10:177388125:TGGCCGTGATGCTCCTGACCTGCTCAAGATCAT:TAGC p.(Gly260SerfsTer24) NC_000005.10:177388126:GGCCGTGATGCTCCTGACCTGCTCAAGATCAT:AGC Analogous +NM_014423.4:c.1255G>C NP_055238.1:p.Glu419Gln NC_000005.10:132898363:C:G p.(Glu419Gln) NC_000005.10:132898363:C:G p.(Glu419Gln) NC_000005.10:132898363:C:G Identity +NM_001278666.2:c.653G>C NP_001265595.1:p.Arg218Thr NC_000006.12:57190521:C:G p.(Arg218Thr) NC_000006.12:57190521:C:G p.(Arg218Thr) NC_000006.12:57190521:C:G Identity +NM_001384900.1:c.1681C>T NP_001371829.1:p.Arg561Ter NC_000007.14:85015080:G:A p.(Arg561Ter) NC_000007.14:85015080:G:A p.(Arg561Ter) NC_000007.14:85015080:G:A Identity +NM_001080463.2:c.1651T>A NP_001073932.1:p.Ser551Thr NC_000011.10:103122989:T:A p.(Ser551Thr) NC_000011.10:103122989:T:A p.(Ser551Thr) NC_000011.10:103122989:T:A Identity +NM_001128929.3:c.1230A>C NP_001122401.1:p.Leu410Phe NC_000003.12:77550939:A:C p.(Leu410Phe) NC_000003.12:77550939:A:C p.(Leu410Phe) NC_000003.12:77550939:A:C Identity +NM_001256053.2:c.731C>G NP_001242982.1:p.Ser244Cys NC_000010.11:27082811:G:C p.(Ser244Cys) NC_000010.11:27082811:G:C p.(Ser244Cys) NC_000010.11:27082811:G:C Identity +NM_001372106.1:c.7802A>G NP_001359035.1:p.Asn2601Ser NC_000012.12:123873573:A:G p.(Asn2601Ser) NC_000012.12:123873573:A:G p.(Asn2601Ser) NC_000012.12:123873573:A:G Identity +NM_017890.5:c.11266T>A NP_060360.3:p.Ser3756Thr NC_000008.11:99861921:T:A p.(Ser3756Thr) NC_000008.11:99861921:T:A p.(Ser3756Thr) NC_000008.11:99861921:T:A Identity +NM_001394011.1:c.3320C>G NP_001380940.1:p.Ala1107Gly NC_000019.10:5221068:G:C p.(Ala1107Gly) NC_000019.10:5221068:G:C p.(Ala1107Gly) NC_000019.10:5221068:G:C Identity +NM_001330431.2:c.805G>A NP_001317360.1:p.Gly269Arg NC_000017.11:63688826:G:A p.(Gly269Arg) NC_000017.11:63688826:G:A p.(Gly269Arg) NC_000017.11:63688826:G:A Identity +NM_012471.3:c.709T>C NP_036603.1:p.Phe237Leu NC_000023.11:111912481:A:G p.(Phe237Leu) NC_000023.11:111912481:A:G p.(Phe237Leu) NC_000023.11:111912481:A:G Identity +NM_001320613.2:c.1388G>A NP_001307542.1:p.Cys463Tyr NC_000002.12:24838589:C:T p.(Cys463Tyr) NC_000002.12:24838589:C:T p.(Cys463Tyr) NC_000002.12:24838589:C:T Identity +NM_001127453.2:c.823A>C NP_001120925.1:p.Ile275Leu NC_000007.14:24710262:T:G p.(Ile275Leu) NC_000007.14:24710262:T:G p.(Ile275Leu) NC_000007.14:24710262:T:G Identity +NM_001256182.2:c.5959T>C NP_001243111.1:p.Phe1987Leu NC_000016.10:89280582:A:G p.(Phe1987Leu) NC_000016.10:89280582:A:G p.(Phe1987Leu) NC_000016.10:89280582:A:G Identity +NM_001127897.4:c.1168G>C NP_001121369.1:p.Ala390Pro NC_000016.10:53664944:C:G p.(Ala390Pro) NC_000016.10:53664944:C:G p.(Ala390Pro) NC_000016.10:53664944:C:G Identity +NM_001374769.1:c.1205A>G NP_001361698.1:p.His402Arg NC_000006.12:100393851:T:C p.(His402Arg) NC_000006.12:100393851:T:C p.(His402Arg) NC_000006.12:100393851:T:C Identity +NM_025179.4:c.3050C>G NP_079455.3:p.Pro1017Arg NC_000001.11:208051366:G:C p.(Pro1017Arg) NC_000001.11:208051366:G:C p.(Pro1017Arg) NC_000001.11:208051366:G:C Identity +NM_001079870.1:c.1750_1753delinsCTCCAGAAAGG NP_001073339.1:p.Cys584fs NC_000017.11:41724756:GGCA:CCTTTCTGGAG p.(Cys584LeufsTer28) NC_000017.11:41724756:GGCA:CCTTTCTGGAG p.(Cys584LeufsTer28) NC_000017.11:41724756:GGCA:CCTTTCTGGAG Analogous +NM_000454.5:c.8C>T NP_000445.1:p.Thr3Met NC_000021.9:31659776:C:T p.(Thr3Met) NC_000021.9:31659776:C:T p.(Thr3Met) NC_000021.9:31659776:C:T Identity +NM_001127897.4:c.2591A>T NP_001121369.1:p.Tyr864Phe NC_000016.10:53645716:T:A p.(Tyr864Phe) NC_000016.10:53645716:T:A p.(Tyr864Phe) NC_000016.10:53645716:T:A Identity +NM_004245.4:c.1735_1736insCT NP_004236.1:p.Gly579fs NC_000015.10:43233581::AG p.(Gly579AlafsTer41) NC_000015.10:43233580:C:AG p.(Gly579AlafsTer41) NC_000015.10:43233581:CC:AG Analogous +NM_000868.4:c.124G>A NP_000859.2:p.Asp42Asn NC_000023.11:114731381:G:A p.(Asp42Asn) NC_000023.11:114731381:G:A p.(Asp42Asn) NC_000023.11:114731381:G:A Identity +NM_001080517.3:c.2158G>T NP_001073986.1:p.Glu720Ter NC_000003.12:9448441:G:T p.(Glu720Ter) NC_000003.12:9448441:G:T p.(Glu720Ter) NC_000003.12:9448441:G:T Identity +NM_018534.4:c.2669T>C NP_061004.3:p.Val890Ala NC_000002.12:205776473:T:C p.(Val890Ala) NC_000002.12:205776473:T:C p.(Val890Ala) NC_000002.12:205776473:T:C Identity +NM_000038.6:c.332G>T NP_000029.2:p.Ser111Ile NC_000005.10:112767299:G:T p.(Ser111Ile) NC_000005.10:112767299:G:T p.(Ser111Ile) NC_000005.10:112767299:G:T Identity +NM_003320.5:c.1306G>A NP_003311.2:p.Gly436Arg NC_000011.10:8100526:G:A p.(Gly436Arg) NC_000011.10:8100526:G:A p.(Gly436Arg) NC_000011.10:8100526:G:A Identity +NM_001111125.3:c.608G>A NP_001104595.1:p.Gly203Asp NC_000023.11:53320515:C:T p.(Gly203Asp) NC_000023.11:53320515:C:T p.(Gly203Asp) NC_000023.11:53320515:C:T Identity +NM_000297.4:c.2022dup NP_000288.1:p.Met675fs NC_000004.12:88061907:T:TT p.(Met675TyrfsTer8) NC_000004.12:88061907:T:TT p.(Met675TyrfsTer8) ERR:SPDI Analogous +NM_000251.3:c.2485C>T NP_000242.1:p.His829Tyr NC_000002.12:47480721:C:T p.(His829Tyr) NC_000002.12:47480721:C:T p.(His829Tyr) NC_000002.12:47480721:C:T Identity +NM_001033604.2:c.797G>A NP_001028776.1:p.Arg266Lys NC_000007.14:33273105:G:A p.(Arg266Lys) NC_000007.14:33273105:G:A p.(Arg266Lys) NC_000007.14:33273105:G:A Identity +NM_001029883.3:c.241C>G NP_001025054.1:p.Pro81Ala NC_000002.12:29074020:G:C p.(Pro81Ala) NC_000002.12:29074020:G:C p.(Pro81Ala) NC_000002.12:29074020:G:C Identity +NM_001143973.2:c.312C>A NP_001137445.1:p.Cys104Ter NC_000010.11:95693420:G:T p.(Cys104Ter) NC_000010.11:95693420:G:T p.(Cys104Ter) NC_000010.11:95693420:G:T Identity +NM_001099679.2:c.1469G>A NP_001093149.1:p.Gly490Asp NC_000009.12:116699210:G:A p.(Gly490Asp) NC_000009.12:116699210:G:A p.(Gly490Asp) NC_000009.12:116699210:G:A Identity +NM_003500.4:c.23T>A NP_003491.1:p.Val8Glu NC_000003.12:58535083:A:T p.(Val8Glu) NC_000003.12:58535083:A:T p.(Val8Glu) NC_000003.12:58535083:A:T Identity +NM_025179.4:c.4501A>G NP_079455.3:p.Ile1501Val NC_000001.11:208038983:T:C p.(Ile1501Val) NC_000001.11:208038983:T:C p.(Ile1501Val) NC_000001.11:208038983:T:C Identity +NM_000162.5:c.757G>C NP_000153.1:p.Val253Leu NC_000007.14:44147755:C:G p.(Val253Leu) NC_000007.14:44147755:C:G p.(Val253Leu) NC_000007.14:44147755:C:G Identity +NM_001005609.2:c.949A>C NP_001005609.1:p.Ser317Arg NC_000023.11:70035387:A:C p.(Ser317Arg) NC_000023.11:70035387:A:C p.(Ser317Arg) NC_000023.11:70035387:A:C Identity +NM_001759.4:c.506A>G NP_001750.1:p.Gln169Arg NC_000012.12:4278853:A:G p.(Gln169Arg) NC_000012.12:4278853:A:G p.(Gln169Arg) NC_000012.12:4278853:A:G Identity +NM_001080463.2:c.4061C>A NP_001073932.1:p.Pro1354His NC_000011.10:103156703:C:A p.(Pro1354His) NC_000011.10:103156703:C:A p.(Pro1354His) NC_000011.10:103156703:C:A Identity +NM_018419.3:c.800C>G NP_060889.1:p.Ala267Gly NC_000020.11:64048520:G:C p.(Ala267Gly) NC_000020.11:64048520:G:C p.(Ala267Gly) NC_000020.11:64048520:G:C Identity +NM_001079846.1:c.4401G>C NP_001073315.1:p.Lys1467Asn NC_000016.10:3736694:C:G p.(Lys1467Asn) NC_000016.10:3736694:C:G p.(Lys1467Asn) NC_000016.10:3736694:C:G Identity +NM_022552.5:c.602G>T NP_072046.2:p.Arg201Leu NC_000002.12:25274977:C:A p.(Arg201Leu) NC_000002.12:25274977:C:A p.(Arg201Leu) NC_000002.12:25274977:C:A Identity +NM_000368.5:c.1600G>T NP_000359.1:p.Glu534Ter NC_000009.12:132905977:C:A p.(Glu534Ter) NC_000009.12:132905977:C:A p.(Glu534Ter) NC_000009.12:132905977:C:A Identity +NM_000719.7:c.787A>T NP_000710.5:p.Lys263Ter NC_000012.12:2486132:A:T p.(Lys263Ter) NC_000012.12:2486132:A:T p.(Lys263Ter) NC_000012.12:2486132:A:T Identity +NM_014934.5:c.1433C>G NP_055749.1:p.Ser478Trp NC_000013.11:95599411:G:C p.(Ser478Trp) NC_000013.11:95599411:G:C p.(Ser478Trp) NC_000013.11:95599411:G:C Identity +NM_030632.3:c.5608C>T NP_085135.1:p.His1870Tyr NC_000018.10:33745455:C:T p.(His1870Tyr) NC_000018.10:33745455:C:T p.(His1870Tyr) NC_000018.10:33745455:C:T Identity +NM_000516.7:c.685G>A NP_000507.1:p.Asp229Asn NC_000020.11:58909545:G:A p.(Asp229Asn) NC_000020.11:58909545:G:A p.(Asp229Asn) NC_000020.11:58909545:G:A Identity +NM_003334.4:c.977C>G NP_003325.2:p.Pro326Arg NC_000023.11:47202424:C:G p.(Pro326Arg) NC_000023.11:47202424:C:G p.(Pro326Arg) NC_000023.11:47202424:C:G Identity +NM_001278531.2:c.1432_1433del NP_001265460.1:p.Leu478fs NC_000006.12:169775975:TTT:T p.(Leu478AspfsTer7) NC_000006.12:169775975:TTT:T p.(Leu478AspfsTer7) NC_000006.12:169775976:TT: Analogous +NM_000406.3:c.777A>T NP_000397.1:p.Pro259= NC_000004.12:67740689:T:A p.(Pro259=) NC_000004.12:67740689:T:A p.(Pro259=) NC_000004.12:67740689:T:A Identity +NM_001252678.2:c.932C>T NP_001239607.1:p.Ser311Leu NC_000015.10:72736960:C:T p.(Ser311Leu) NC_000015.10:72736960:C:T p.(Ser311Leu) NC_000015.10:72736960:C:T Identity +NM_003356.4:c.712G>T NP_003347.1:p.Val238Leu NC_000011.10:74003938:C:A p.(Val238Leu) NC_000011.10:74003938:C:A p.(Val238Leu) NC_000011.10:74003938:C:A Identity +NM_030665.4:c.4283C>T NP_109590.3:p.Ala1428Val NC_000017.11:17797230:C:T p.(Ala1428Val) NC_000017.11:17797230:C:T p.(Ala1428Val) NC_000017.11:17797230:C:T Identity +NM_001206696.2:c.93del NP_001193625.1:p.Gly32fs NC_000001.11:209796348:T: p.(Gly32AspfsTer40) NC_000001.11:209796348:T: p.(Gly32AspfsTer40) NC_000001.11:209796348:T: Analogous +NM_001410908.1:c.1112A>G NP_001397837.1:p.Asn371Ser NC_000007.14:105077414:A:G p.(Asn371Ser) NC_000007.14:105077414:A:G p.(Asn371Ser) NC_000007.14:105077414:A:G Identity +NM_001369.3:c.11075T>A NP_001360.1:p.Leu3692His NC_000005.10:13751213:A:T p.(Leu3692His) NC_000005.10:13751213:A:T p.(Leu3692His) NC_000005.10:13751213:A:T Identity +NM_001347701.2:c.494A>C NP_001334630.1:p.Asp165Ala NC_000006.12:152155999:T:G p.(Asp165Ala) NC_000006.12:152155999:T:G p.(Asp165Ala) NC_000006.12:152155999:T:G Identity +NM_001080476.3:c.169del NP_001073945.1:p.Asp57fs NC_000004.12:42893434:G: p.(Asp57IlefsTer10) NC_000004.12:42893434:G: p.(Asp57IlefsTer10) NC_000004.12:42893434:G: Analogous +NM_005912.3:c.59del NP_005903.2:p.Ser20fs NC_000018.10:60372290:C: p.(Ser20IlefsTer33) NC_000018.10:60372290:C: p.(Ser20IlefsTer33) NC_000018.10:60372290:C: Analogous +NM_001271933.2:c.2647C>T NP_001258862.1:p.Leu883Phe NC_000011.10:117394370:C:T p.(Leu883Phe) NC_000011.10:117394370:C:T p.(Leu883Phe) NC_000011.10:117394370:C:T Identity +NM_001393897.1:c.4511G>A NP_001380826.1:p.Cys1504Tyr NC_000007.14:132159621:C:T p.(Cys1504Tyr) NC_000007.14:132159621:C:T p.(Cys1504Tyr) NC_000007.14:132159621:C:T Identity +NM_004714.3:c.253A>G NP_004705.1:p.Lys85Glu NC_000019.10:39830493:T:C p.(Lys85Glu) NC_000019.10:39830493:T:C p.(Lys85Glu) NC_000019.10:39830493:T:C Identity +NM_001003679.3:c.1695G>C NP_001003679.1:p.Glu565Asp NC_000001.11:65608843:G:C p.(Glu565Asp) NC_000001.11:65608843:G:C p.(Glu565Asp) NC_000001.11:65608843:G:C Identity +NM_001320613.2:c.1503A>C NP_001307542.1:p.Lys501Asn NC_000002.12:24838474:T:G p.(Lys501Asn) NC_000002.12:24838474:T:G p.(Lys501Asn) NC_000002.12:24838474:T:G Identity +NM_001371271.1:c.2948G>T NP_001358200.1:p.Arg983Leu NC_000002.12:120988861:G:T p.(Arg983Leu) NC_000002.12:120988861:G:T p.(Arg983Leu) NC_000002.12:120988861:G:T Identity +NM_001394062.1:c.15548G>A NP_001380991.1:p.Cys5183Tyr NC_000001.11:39388389:G:A p.(Cys5183Tyr) NC_000001.11:39388389:G:A p.(Cys5183Tyr) NC_000001.11:39388389:G:A Identity +NM_001024628.3:c.689A>G NP_001019799.2:p.Gln230Arg NC_000010.11:33256440:T:C p.(Gln230Arg) NC_000010.11:33256440:T:C p.(Gln230Arg) NC_000010.11:33256440:T:C Identity +NM_001003679.3:c.2498T>C NP_001003679.1:p.Ile833Thr NC_000001.11:65621358:T:C p.(Ile833Thr) NC_000001.11:65621358:T:C p.(Ile833Thr) NC_000001.11:65621358:T:C Identity +NM_001193307.2:c.1797T>A NP_001180236.1:p.Asp599Glu NC_000007.14:93104300:A:T p.(Asp599Glu) NC_000007.14:93104300:A:T p.(Asp599Glu) NC_000007.14:93104300:A:T Identity +NM_017514.5:c.1837C>T NP_059984.3:p.Arg613Cys NC_000023.11:154464409:C:T p.(Arg613Cys) NC_000023.11:154464409:C:T p.(Arg613Cys) NC_000023.11:154464409:C:T Identity +NM_005245.4:c.4711G>A NP_005236.2:p.Val1571Ile NC_000004.12:186628252:C:T p.(Val1571Ile) NC_000004.12:186628252:C:T p.(Val1571Ile) NC_000004.12:186628252:C:T Identity +NM_001378418.1:c.1735G>A NP_001365347.1:p.Glu579Lys NC_000022.11:42213570:C:T p.(Glu579Lys) NC_000022.11:42213570:C:T p.(Glu579Lys) NC_000022.11:42213570:C:T Identity +NM_017514.5:c.3157G>A NP_059984.3:p.Glu1053Lys NC_000023.11:154467105:G:A p.(Glu1053Lys) NC_000023.11:154467105:G:A p.(Glu1053Lys) NC_000023.11:154467105:G:A Identity +NM_001256850.1:c.27595C>T NP_001243779.1:p.Arg9199Cys NC_000002.12:178709772:G:A p.(Arg9199Cys) NC_000002.12:178709772:G:A p.(Arg9199Cys) NC_000002.12:178709772:G:A Identity +NM_001328422.2:c.350G>A NP_001315351.1:p.Gly117Asp NC_000016.10:53695338:C:T p.(Gly117Asp) NC_000016.10:53695338:C:T p.(Gly117Asp) NC_000016.10:53695338:C:T Identity +NM_033225.6:c.6601G>C NP_150094.5:p.Ala2201Pro NC_000008.11:3110164:C:G p.(Ala2201Pro) NC_000008.11:3110164:C:G p.(Ala2201Pro) NC_000008.11:3110164:C:G Identity +NM_000168.6:c.2054dup NP_000159.3:p.Arg686fs NC_000007.14:41972385:TTT:TTTT p.(Arg686AlafsTer52) NC_000007.14:41972385:TTT:TTTT p.(Arg686AlafsTer52) ERR:SPDI Analogous +NM_001005914.3:c.1857G>C NP_001005914.1:p.Glu619Asp NC_000003.12:50276315:G:C p.(Glu619Asp) NC_000003.12:50276315:G:C p.(Glu619Asp) NC_000003.12:50276315:G:C Identity +NM_001315529.2:c.9122G>A NP_001302458.1:p.Arg3041Gln NC_000021.9:46443821:G:A p.(Arg3041Gln) NC_000021.9:46443821:G:A p.(Arg3041Gln) NC_000021.9:46443821:G:A Identity +NM_001378454.1:c.3658C>A NP_001365383.1:p.Pro1220Thr NC_000002.12:73450184:C:A p.(Pro1220Thr) NC_000002.12:73450184:C:A p.(Pro1220Thr) NC_000002.12:73450184:C:A Identity +NM_001008211.1:c.423C>G NP_001008212.1:p.Asp141Glu NC_000010.11:13112505:C:G p.(Asp141Glu) NC_000010.11:13112505:C:G p.(Asp141Glu) NC_000010.11:13112505:C:G Identity +NM_001286771.3:c.3959A>T NP_001273700.1:p.Lys1320Met NC_000004.12:73113894:T:A p.(Lys1320Met) NC_000004.12:73113894:T:A p.(Lys1320Met) NC_000004.12:73113894:T:A Identity +NM_000044.6:c.260dup NP_000035.2:p.Gln88fs NC_000023.11:67545405:A:AA p.(Gln88AlafsTer6) NC_000023.11:67545405:A:AA p.(Gln88AlafsTer6) ERR:SPDI Analogous +NM_001135040.3:c.1688G>A NP_001128512.1:p.Arg563Gln NC_000002.12:74368833:C:T p.(Arg563Gln) NC_000002.12:74368833:C:T p.(Arg563Gln) NC_000002.12:74368833:C:T Identity +NM_144643.4:c.1843C>T NP_653244.2:p.Arg615Ter NC_000004.12:128891123:G:A p.(Arg615Ter) NC_000004.12:128891123:G:A p.(Arg615Ter) NC_000004.12:128891123:G:A Identity +NM_001873.4:c.536G>A NP_001864.1:p.Arg179Gln NC_000004.12:165467718:G:A p.(Arg179Gln) NC_000004.12:165467718:G:A p.(Arg179Gln) NC_000004.12:165467718:G:A Identity +NM_025179.4:c.2081G>A NP_079455.3:p.Arg694Gln NC_000001.11:208092801:C:T p.(Arg694Gln) NC_000001.11:208092801:C:T p.(Arg694Gln) NC_000001.11:208092801:C:T Identity +NM_173598.6:c.1525A>T NP_775869.4:p.Ile509Phe NC_000012.12:117539880:T:A p.(Ile509Phe) NC_000012.12:117539880:T:A p.(Ile509Phe) NC_000012.12:117539880:T:A Identity +NM_012448.4:c.286A>C NP_036580.2:p.Asn96His NC_000017.11:42224867:T:G p.(Asn96His) NC_000017.11:42224867:T:G p.(Asn96His) NC_000017.11:42224867:T:G Identity +NM_001413184.1:c.1229C>A NP_001400113.1:p.Ser410Ter NC_000008.11:67276083:G:T p.(Ser410Ter) NC_000008.11:67276083:G:T p.(Ser410Ter) NC_000008.11:67276083:G:T Identity +NM_001410842.1:c.841G>T NP_001397771.1:p.Glu281Ter NC_000004.12:139351219:G:T p.(Glu281Ter) NC_000004.12:139351219:G:T p.(Glu281Ter) NC_000004.12:139351219:G:T Identity +NM_001142364.1:c.178T>C NP_001135836.1:p.Trp60Arg NC_000013.11:36995484:A:G p.(Trp60Arg) NC_000013.11:36995484:A:G p.(Trp60Arg) NC_000013.11:36995484:A:G Identity +NM_016204.4:c.358A>G NP_057288.1:p.Ile120Val NC_000010.11:47324851:A:G p.(Ile120Val) NC_000010.11:47324851:A:G p.(Ile120Val) NC_000010.11:47324851:A:G Identity +NM_001365116.2:c.5219C>T NP_001352045.1:p.Ala1740Val NC_000003.12:47002663:C:T p.(Ala1740Val) NC_000003.12:47002663:C:T p.(Ala1740Val) NC_000003.12:47002663:C:T Identity +NM_022802.3:c.125C>T NP_073713.2:p.Thr42Met NC_000010.11:125027634:G:A p.(Thr42Met) NC_000010.11:125027634:G:A p.(Thr42Met) NC_000010.11:125027634:G:A Identity +NM_032242.4:c.1319A>G NP_115618.3:p.Tyr440Cys NC_000003.12:126991507:A:G p.(Tyr440Cys) NC_000003.12:126991507:A:G p.(Tyr440Cys) NC_000003.12:126991507:A:G Identity +NM_001190964.4:c.17T>C NP_001177893.1:p.Val6Ala NC_000013.11:19993088:T:C p.(Val6Ala) NC_000013.11:19993088:T:C p.(Val6Ala) NC_000013.11:19993088:T:C Identity +NM_018848.3:c.530T>A NP_061336.1:p.Leu177Ter NC_000020.11:10412984:A:T p.(Leu177Ter) NC_000020.11:10412984:A:T p.(Leu177Ter) NC_000020.11:10412984:A:T Identity +NM_001315529.2:c.8268C>G NP_001302458.1:p.His2756Gln NC_000021.9:46436010:C:G p.(His2756Gln) NC_000021.9:46436010:C:G p.(His2756Gln) NC_000021.9:46436010:C:G Identity +NM_001348729.2:c.3931C>T NP_001335658.1:p.His1311Tyr NC_000002.12:8733568:G:A p.(His1311Tyr) NC_000002.12:8733568:G:A p.(His1311Tyr) NC_000002.12:8733568:G:A Identity +NM_001190709.2:c.2945G>A NP_001177638.1:p.Gly982Glu NC_000001.11:102962227:C:T p.(Gly982Glu) NC_000001.11:102962227:C:T p.(Gly982Glu) NC_000001.11:102962227:C:T Identity +NM_007375.4:c.829G>C NP_031401.1:p.Gly277Arg NC_000001.11:11022237:G:C p.(Gly277Arg) NC_000001.11:11022237:G:C p.(Gly277Arg) NC_000001.11:11022237:G:C Identity +NM_001003679.3:c.1776del NP_001003679.1:p.Lys592fs NC_000001.11:65609966:AAAA:AAA p.(Lys592AsnfsTer25) NC_000001.11:65609966:AAAA:AAA p.(Lys592AsnfsTer25) NC_000001.11:65609969:A: Analogous +NM_001873.4:c.362G>A NP_001864.1:p.Arg121Gln NC_000004.12:165464443:G:A p.(Arg121Gln) NC_000004.12:165464443:G:A p.(Arg121Gln) NC_000004.12:165464443:G:A Identity +NM_005912.3:c.106T>A NP_005903.2:p.Ser36Thr NC_000018.10:60372243:A:T p.(Ser36Thr) NC_000018.10:60372243:A:T p.(Ser36Thr) NC_000018.10:60372243:A:T Identity +NM_201284.2:c.1946G>T NP_958441.1:p.Ser649Ile NC_000007.14:55170371:G:T p.(Ser649Ile) NC_000007.14:55170371:G:T p.(Ser649Ile) NC_000007.14:55170371:G:T Identity +NM_001168398.2:c.95G>A NP_001161870.1:p.Arg32Lys NC_000006.12:87477439:G:A p.(Arg32Lys) NC_000006.12:87477439:G:A p.(Arg32Lys) NC_000006.12:87477439:G:A Identity +NM_138348.6:c.590A>G NP_612357.4:p.Lys197Arg NC_000005.10:14687641:A:G p.(Lys197Arg) NC_000005.10:14687641:A:G p.(Lys197Arg) NC_000005.10:14687641:A:G Identity +NM_003356.4:c.406C>T NP_003347.1:p.Pro136Ser NC_000011.10:74005864:G:A p.(Pro136Ser) NC_000011.10:74005864:G:A p.(Pro136Ser) NC_000011.10:74005864:G:A Identity +NM_015375.3:c.653A>G NP_056190.1:p.Gln218Arg NC_000001.11:205187418:T:C p.(Gln218Arg) NC_000001.11:205187418:T:C p.(Gln218Arg) NC_000001.11:205187418:T:C Identity +NM_001349370.3:c.2569G>A NP_001336299.1:p.Gly857Arg NC_000003.12:47121934:C:T p.(Gly857Arg) NC_000003.12:47121934:C:T p.(Gly857Arg) NC_000003.12:47121934:C:T Identity +NM_001025108.2:c.2833G>A NP_001020279.1:p.Asp945Asn NC_000002.12:99582832:C:T p.(Asp945Asn) NC_000002.12:99582832:C:T p.(Asp945Asn) NC_000002.12:99582832:C:T Identity +NM_173598.6:c.1816C>T NP_775869.4:p.Pro606Ser NC_000012.12:117527105:G:A p.(Pro606Ser) NC_000012.12:117527105:G:A p.(Pro606Ser) NC_000012.12:117527105:G:A Identity +NM_005560.6:c.8209A>T NP_005551.3:p.Met2737Leu NC_000020.11:62314712:T:A p.(Met2737Leu) NC_000020.11:62314712:T:A p.(Met2737Leu) NC_000020.11:62314712:T:A Identity +NM_001315529.2:c.3378G>T NP_001302458.1:p.Met1126Ile NC_000021.9:46389322:G:T p.(Met1126Ile) NC_000021.9:46389322:G:T p.(Met1126Ile) NC_000021.9:46389322:G:T Identity +NM_019066.5:c.488C>G NP_061939.3:p.Pro163Arg NC_000015.10:23647254:G:C p.(Pro163Arg) NC_000015.10:23647254:G:C p.(Pro163Arg) NC_000015.10:23647254:G:C Identity +NM_001032998.2:c.737dup NP_001028170.1:p.Tyr246Ter NC_000002.12:142985090:A:AA p.(Tyr246Ter) NC_000002.12:142985090:A:AA p.(Tyr246Ter) ERR:SPDI Identity +NM_001330308.2:c.359A>G NP_001317237.1:p.Glu120Gly NC_000011.10:65341455:A:G p.(Glu120Gly) NC_000011.10:65341455:A:G p.(Glu120Gly) NC_000011.10:65341455:A:G Identity +NM_012471.3:c.2590A>G NP_036603.1:p.Met864Val NC_000023.11:111776644:T:C p.(Met864Val) NC_000023.11:111776644:T:C p.(Met864Val) NC_000023.11:111776644:T:C Identity +NM_003872.3:c.2330G>T NP_003863.2:p.Gly777Val NC_000002.12:205765495:G:T p.(Gly777Val) NC_000002.12:205765495:G:T p.(Gly777Val) NC_000002.12:205765495:G:T Identity +NM_001142966.3:c.1220T>C NP_001136438.1:p.Leu407Ser NC_000018.10:21444235:T:C p.(Leu407Ser) NC_000018.10:21444235:T:C p.(Leu407Ser) NC_000018.10:21444235:T:C Identity +NM_017429.3:c.971T>C NP_059125.2:p.Ile324Thr NC_000016.10:81270285:T:C p.(Ile324Thr) NC_000016.10:81270285:T:C p.(Ile324Thr) NC_000016.10:81270285:T:C Identity +NM_014599.6:c.395C>T NP_055414.2:p.Thr132Ile NC_000023.11:54810070:C:T p.(Thr132Ile) NC_000023.11:54810070:C:T p.(Thr132Ile) NC_000023.11:54810070:C:T Identity +NM_173598.6:c.788G>A NP_775869.4:p.Arg263His NC_000012.12:117761208:C:T p.(Arg263His) NC_000012.12:117761208:C:T p.(Arg263His) NC_000012.12:117761208:C:T Identity +NM_001818.5:c.113C>T NP_001809.4:p.Thr38Ile NC_000010.11:5200208:C:T p.(Thr38Ile) NC_000010.11:5200208:C:T p.(Thr38Ile) NC_000010.11:5200208:C:T Identity +NM_001303456.1:c.1572del NP_001290385.1:p.Ser525fs NC_000001.11:145842346:CC:C p.(Ser525ValfsTer20) NC_000001.11:145842346:CC:C p.(Ser525ValfsTer20) NC_000001.11:145842347:C: Analogous +NM_001005914.3:c.1516G>A NP_001005914.1:p.Ala506Thr NC_000003.12:50275328:G:A p.(Ala506Thr) NC_000003.12:50275328:G:A p.(Ala506Thr) NC_000003.12:50275328:G:A Identity +NM_001081676.2:c.707T>C NP_001075145.1:p.Ile236Thr NC_000002.12:165162815:A:G p.(Ile236Thr) NC_000002.12:165162815:A:G p.(Ile236Thr) NC_000002.12:165162815:A:G Identity +NM_003227.4:c.263C>T NP_003218.2:p.Thr88Met NC_000007.14:100640998:G:A p.(Thr88Met) NC_000007.14:100640998:G:A p.(Thr88Met) NC_000007.14:100640998:G:A Identity +NM_000939.4:c.286G>T NP_000930.1:p.Gly96Cys NC_000002.12:25161598:C:A p.(Gly96Cys) NC_000002.12:25161598:C:A p.(Gly96Cys) NC_000002.12:25161598:C:A Identity +NM_001315529.2:c.4260A>C NP_001302458.1:p.Glu1420Asp NC_000021.9:46399618:A:C p.(Glu1420Asp) NC_000021.9:46399618:A:C p.(Glu1420Asp) NC_000021.9:46399618:A:C Identity +NM_017514.5:c.4420G>A NP_059984.3:p.Asp1474Asn NC_000023.11:154468954:G:A p.(Asp1474Asn) NC_000023.11:154468954:G:A p.(Asp1474Asn) NC_000023.11:154468954:G:A Identity +NM_017934.7:c.1363A>G NP_060404.4:p.Thr455Ala NC_000006.12:79015655:T:C p.(Thr455Ala) NC_000006.12:79015655:T:C p.(Thr455Ala) NC_000006.12:79015655:T:C Identity +NM_001080527.2:c.4700C>T NP_001073996.1:p.Thr1567Met NC_000002.12:127629797:C:T p.(Thr1567Met) NC_000002.12:127629797:C:T p.(Thr1567Met) NC_000002.12:127629797:C:T Identity +NM_003737.4:c.6028G>A NP_003728.1:p.Gly2010Ser NC_000011.10:6627010:C:T p.(Gly2010Ser) NC_000011.10:6627010:C:T p.(Gly2010Ser) NC_000011.10:6627010:C:T Identity +NM_004747.4:c.2284G>A NP_004738.3:p.Val762Ile NC_000010.11:77828886:C:T p.(Val762Ile) NC_000010.11:77828886:C:T p.(Val762Ile) NC_000010.11:77828886:C:T Identity +NM_001098816.3:c.7372A>C NP_001092286.2:p.Ile2458Leu NC_000011.10:78668972:T:G p.(Ile2458Leu) NC_000011.10:78668972:T:G p.(Ile2458Leu) NC_000011.10:78668972:T:G Identity +NM_001320893.1:c.16G>A NP_001307822.1:p.Ala6Thr NC_000002.12:25252078:C:T p.(Ala6Thr) NC_000002.12:25252078:C:T p.(Ala6Thr) NC_000002.12:25252078:C:T Identity +NM_152384.3:c.380T>C NP_689597.1:p.Val127Ala NC_000002.12:169488107:T:C p.(Val127Ala) NC_000002.12:169488107:T:C p.(Val127Ala) NC_000002.12:169488107:T:C Identity +NM_001201457.2:c.355G>A NP_001188386.1:p.Asp119Asn NC_000017.11:58622908:C:T p.(Asp119Asn) NC_000017.11:58622908:C:T p.(Asp119Asn) NC_000017.11:58622908:C:T Identity +NM_001410908.1:c.1508A>G NP_001397837.1:p.Asp503Gly NC_000007.14:105090157:A:G p.(Asp503Gly) NC_000007.14:105090157:A:G p.(Asp503Gly) NC_000007.14:105090157:A:G Identity +NM_001005914.3:c.729CTT[2] NP_001005914.1:p.Phe246del NC_000003.12:50273361:CTTCTTCTT:CTTCTT p.(Phe246del) NC_000003.12:50273361:C:CTTCTT ERR:Parse ERR:Parse Identity +NM_021076.4:c.1616A>C NP_066554.2:p.Lys539Thr NC_000022.11:29489255:A:C p.(Lys539Thr) NC_000022.11:29489255:A:C p.(Lys539Thr) NC_000022.11:29489255:A:C Identity +NM_012471.3:c.1375A>G NP_036603.1:p.Lys459Glu NC_000023.11:111852299:T:C p.(Lys459Glu) NC_000023.11:111852299:T:C p.(Lys459Glu) NC_000023.11:111852299:T:C Identity +NM_001377334.1:c.3076G>A NP_001364263.1:p.Val1026Met NC_000001.11:204442605:C:T p.(Val1026Met) NC_000001.11:204442605:C:T p.(Val1026Met) NC_000001.11:204442605:C:T Identity +NM_001362950.1:c.2995_2997del NP_001349879.1:p.Ser999del NC_000002.12:24729606:CTTCT:CT p.(Ser999del) NC_000002.12:24729606:CTTCT:CT p.(Ser999del) NC_000002.12:24729608:TCT: Identity +NM_001315529.2:c.2737C>T NP_001302458.1:p.Arg913Trp NC_000021.9:46367064:C:T p.(Arg913Trp) NC_000021.9:46367064:C:T p.(Arg913Trp) NC_000021.9:46367064:C:T Identity +NM_001110792.2:c.1200_1202del NP_001104262.1:p.Pro403del NC_000023.11:154030661:GGTGG:GG p.(Pro403del) NC_000023.11:154030661:GGTGG:GG p.(Pro403del) NC_000023.11:154030661:GGT: Identity +NM_001350120.2:c.1634C>T NP_001337049.1:p.Ala545Val NC_000007.14:80758393:G:A p.(Ala545Val) NC_000007.14:80758393:G:A p.(Ala545Val) NC_000007.14:80758393:G:A Identity +NM_001322194.2:c.2959G>A NP_001309123.1:p.Glu987Lys NC_000009.12:5090810:G:A p.(Glu987Lys) NC_000009.12:5090810:G:A p.(Glu987Lys) NC_000009.12:5090810:G:A Identity +NM_001029882.3:c.3019A>G NP_001025053.1:p.Ser1007Gly NC_000001.11:27549096:T:C p.(Ser1007Gly) NC_000001.11:27549096:T:C p.(Ser1007Gly) NC_000001.11:27549096:T:C Identity +NM_001393897.1:c.5584G>A NP_001380826.1:p.Glu1862Lys NC_000007.14:132133053:C:T p.(Glu1862Lys) NC_000007.14:132133053:C:T p.(Glu1862Lys) NC_000007.14:132133053:C:T Identity +NM_001315529.2:c.2954A>T NP_001302458.1:p.Gln985Leu NC_000021.9:46381835:A:T p.(Gln985Leu) NC_000021.9:46381835:A:T p.(Gln985Leu) NC_000021.9:46381835:A:T Identity +NM_001362950.1:c.3977C>T NP_001349879.1:p.Thr1326Met NC_000002.12:24758067:C:T p.(Thr1326Met) NC_000002.12:24758067:C:T p.(Thr1326Met) NC_000002.12:24758067:C:T Identity +NM_001454.4:c.821G>A NP_001445.2:p.Arg274His NC_000017.11:76137797:C:T p.(Arg274His) NC_000017.11:76137797:C:T p.(Arg274His) NC_000017.11:76137797:C:T Identity +NM_002202.3:c.182G>A NP_002193.2:p.Arg61Lys NC_000005.10:51384693:G:A p.(Arg61Lys) NC_000005.10:51384693:G:A p.(Arg61Lys) NC_000005.10:51384693:G:A Identity +NM_020163.3:c.1097A>G NP_064548.1:p.Gln366Arg NC_000003.12:52440422:T:C p.(Gln366Arg) NC_000003.12:52440422:T:C p.(Gln366Arg) NC_000003.12:52440422:T:C Identity +NM_001127897.4:c.842C>T NP_001121369.1:p.Ala281Val NC_000016.10:53675056:G:A p.(Ala281Val) NC_000016.10:53675056:G:A p.(Ala281Val) NC_000016.10:53675056:G:A Identity +NM_001378454.1:c.3677A>G NP_001365383.1:p.Asp1226Gly NC_000002.12:73450203:A:G p.(Asp1226Gly) NC_000002.12:73450203:A:G p.(Asp1226Gly) NC_000002.12:73450203:A:G Identity +NM_018315.5:c.80A>G NP_060785.2:p.Asn27Ser NC_000004.12:152352650:T:C p.(Asn27Ser) NC_000004.12:152352650:T:C p.(Asn27Ser) NC_000004.12:152352650:T:C Identity +NM_032242.4:c.5519G>A NP_115618.3:p.Arg1840His NC_000003.12:127032759:G:A p.(Arg1840His) NC_000003.12:127032759:G:A p.(Arg1840His) NC_000003.12:127032759:G:A Identity +NM_001314033.3:c.1576C>T NP_001300962.1:p.Arg526Cys NC_000019.10:42225978:C:T p.(Arg526Cys) NC_000019.10:42225978:C:T p.(Arg526Cys) NC_000019.10:42225978:C:T Identity +NM_016343.4:c.140C>T NP_057427.3:p.Ala47Val NC_000001.11:214613893:C:T p.(Ala47Val) NC_000001.11:214613893:C:T p.(Ala47Val) NC_000001.11:214613893:C:T Identity +NM_001346541.2:c.30A>T NP_001333470.1:p.Arg10Ser NC_000006.12:84089150:A:T p.(Arg10Ser) NC_000006.12:84089150:A:T p.(Arg10Ser) NC_000006.12:84089150:A:T Identity +NM_003872.3:c.553A>T NP_003863.2:p.Met185Leu NC_000002.12:205722596:A:T p.(Met185Leu) NC_000002.12:205722596:A:T p.(Met185Leu) NC_000002.12:205722596:A:T Identity +NM_001377456.1:c.764A>T NP_001364385.1:p.Asp255Val NC_000016.10:56505989:T:A p.(Asp255Val) NC_000016.10:56505989:T:A p.(Asp255Val) NC_000016.10:56505989:T:A Identity +NM_000130.5:c.2217C>A NP_000121.2:p.Phe739Leu NC_000001.11:169542872:G:T p.(Phe739Leu) NC_000001.11:169542872:G:T p.(Phe739Leu) NC_000001.11:169542872:G:T Identity +NM_001076552.3:c.319G>C NP_001070020.2:p.Val107Leu NC_000020.11:34882933:G:C p.(Val107Leu) NC_000020.11:34882933:G:C p.(Val107Leu) NC_000020.11:34882933:G:C Identity +NM_001289975.1:c.2538T>A NP_001276904.1:p.Asp846Glu NC_000002.12:159412365:A:T p.(Asp846Glu) NC_000002.12:159412365:A:T p.(Asp846Glu) NC_000002.12:159412365:A:T Identity +NM_001394531.1:c.4874A>C NP_001381460.1:p.Asp1625Ala NC_000010.11:48810564:A:C p.(Asp1625Ala) NC_000010.11:48810564:A:C p.(Asp1625Ala) NC_000010.11:48810564:A:C Identity +NM_001350246.2:c.241_242dup NP_001337175.1:p.Gln81fs NC_000001.11:243330614:CA:CACA p.(Gln81HisfsTer12) NC_000001.11:243330614:CA:CACA p.(Gln81HisfsTer12) ERR:SPDI Analogous +NM_024685.4:c.1601C>T NP_078961.3:p.Thr534Ile NC_000012.12:76346383:G:A p.(Thr534Ile) NC_000012.12:76346383:G:A p.(Thr534Ile) NC_000012.12:76346383:G:A Identity +NM_030665.4:c.4078T>C NP_109590.3:p.Ser1360Pro NC_000017.11:17797025:T:C p.(Ser1360Pro) NC_000017.11:17797025:T:C p.(Ser1360Pro) NC_000017.11:17797025:T:C Identity +NM_001276506.2:c.359_374del NP_001263435.1:p.Ser120fs NC_000011.10:112093120:GCTCAGCACGATCTCAGCT:GCT p.(Ser120LeufsTer79) NC_000011.10:112093120:GCTCAGCACGATCTCAGCT:GCT p.(Ser120LeufsTer79) NC_000011.10:112093123:CAGCACGATCTCAGCT: Analogous +NM_001362843.2:c.5596G>A NP_001349772.1:p.Ala1866Thr NC_000022.11:41177384:G:A p.(Ala1866Thr) NC_000022.11:41177384:G:A p.(Ala1866Thr) NC_000022.11:41177384:G:A Identity +NM_144999.4:c.1325G>A NP_659436.1:p.Arg442His NC_000017.11:82029108:G:A p.(Arg442His) NC_000017.11:82029108:G:A p.(Arg442His) NC_000017.11:82029108:G:A Identity +NM_005015.5:c.1124C>T NP_005006.4:p.Thr375Met NC_000014.9:22771288:C:T p.(Thr375Met) NC_000014.9:22771288:C:T p.(Thr375Met) NC_000014.9:22771288:C:T Identity +NM_001127897.4:c.1421A>C NP_001121369.1:p.Asn474Thr NC_000016.10:53657612:T:G p.(Asn474Thr) NC_000016.10:53657612:T:G p.(Asn474Thr) NC_000016.10:53657612:T:G Identity +NM_003743.5:c.4211G>C NP_003734.3:p.Gly1404Ala NC_000002.12:24768275:G:C p.(Gly1404Ala) NC_000002.12:24768275:G:C p.(Gly1404Ala) NC_000002.12:24768275:G:C Identity +NM_017934.7:c.1005T>G NP_060404.4:p.Phe335Leu NC_000006.12:79017572:A:C p.(Phe335Leu) NC_000006.12:79017572:A:C p.(Phe335Leu) NC_000006.12:79017572:A:C Identity +NM_001348729.2:c.4922T>C NP_001335658.1:p.Ile1641Thr NC_000002.12:8731116:A:G p.(Ile1641Thr) NC_000002.12:8731116:A:G p.(Ile1641Thr) NC_000002.12:8731116:A:G Identity +NM_001144964.1:c.2429G>C NP_001138436.1:p.Gly810Ala NC_000018.10:58391525:G:C p.(Gly810Ala) NC_000018.10:58391525:G:C p.(Gly810Ala) NC_000018.10:58391525:G:C Identity +NM_033071.5:c.10135T>A NP_149062.2:p.Ser3379Thr NC_000006.12:152364877:A:T p.(Ser3379Thr) NC_000006.12:152364877:A:T p.(Ser3379Thr) NC_000006.12:152364877:A:T Identity +NM_001318533.2:c.1184C>T NP_001305462.1:p.Ala395Val NC_000011.10:113350083:C:T p.(Ala395Val) NC_000011.10:113350083:C:T p.(Ala395Val) NC_000011.10:113350083:C:T Identity +NM_001005914.3:c.2209C>T NP_001005914.1:p.Arg737Cys NC_000003.12:50276667:C:T p.(Arg737Cys) NC_000003.12:50276667:C:T p.(Arg737Cys) NC_000003.12:50276667:C:T Identity +NM_001413634.1:c.112C>T NP_001400563.1:p.Arg38Cys NC_000012.12:108885117:C:T p.(Arg38Cys) NC_000012.12:108885117:C:T p.(Arg38Cys) NC_000012.12:108885117:C:T Identity +NM_001966.4:c.98AAG[1] NP_001957.2:p.Glu34del NC_000003.12:185248488:CTTCTT:CTT p.(Glu34del) NC_000003.12:185248493:T:CTT ERR:Parse ERR:Parse Identity +NM_001282874.2:c.379C>T NP_001269803.1:p.Arg127Cys NC_000023.11:129516379:G:A p.(Arg127Cys) NC_000023.11:129516379:G:A p.(Arg127Cys) NC_000023.11:129516379:G:A Identity +NM_017514.5:c.203C>T NP_059984.3:p.Thr68Met NC_000023.11:154460385:C:T p.(Thr68Met) NC_000023.11:154460385:C:T p.(Thr68Met) NC_000023.11:154460385:C:T Identity +NM_001321851.1:c.1435G>T NP_001308780.1:p.Glu479Ter NC_000014.9:92007728:C:A p.(Glu479Ter) NC_000014.9:92007728:C:A p.(Glu479Ter) NC_000014.9:92007728:C:A Identity +NM_000392.5:c.1645G>A NP_000383.2:p.Val549Ile NC_000010.11:99807497:G:A p.(Val549Ile) NC_000010.11:99807497:G:A p.(Val549Ile) NC_000010.11:99807497:G:A Identity +NM_014423.4:c.1375A>C NP_055238.1:p.Ser459Arg NC_000005.10:132898243:T:G p.(Ser459Arg) NC_000005.10:132898243:T:G p.(Ser459Arg) NC_000005.10:132898243:T:G Identity +NM_020655.4:c.2101dup NP_065706.2:p.Gln701fs NC_000016.10:87690457:CCCC:CCCCC p.(Gln701ProfsTer17) NC_000016.10:87690457:CCCC:CCCCC p.(Gln701ProfsTer17) ERR:SPDI Analogous +NM_001105243.2:c.2479G>T NP_001098713.1:p.Glu827Ter NC_000023.11:100350700:C:A p.(Glu827Ter) NC_000023.11:100350700:C:A p.(Glu827Ter) NC_000023.11:100350700:C:A Identity +NM_001025076.2:c.790del NP_001020247.1:p.Ala264fs NC_000010.11:11288458:G: p.(Ala264LeufsTer45) NC_000010.11:11288458:G: p.(Ala264LeufsTer45) NC_000010.11:11288458:G: Analogous +NM_005413.4:c.401C>A NP_005404.1:p.Ala134Glu NC_000002.12:44942504:C:A p.(Ala134Glu) NC_000002.12:44942504:C:A p.(Ala134Glu) NC_000002.12:44942504:C:A Identity +NM_001033604.2:c.214G>T NP_001028776.1:p.Val72Leu NC_000007.14:33152801:G:T p.(Val72Leu) NC_000007.14:33152801:G:T p.(Val72Leu) NC_000007.14:33152801:G:T Identity +NM_001362950.1:c.2675C>T NP_001349879.1:p.Thr892Ile NC_000002.12:24726663:C:T p.(Thr892Ile) NC_000002.12:24726663:C:T p.(Thr892Ile) NC_000002.12:24726663:C:T Identity +NM_001265612.2:c.6595A>G NP_001252541.1:p.Asn2199Asp NC_000016.10:58525352:T:C p.(Asn2199Asp) NC_000016.10:58525352:T:C p.(Asn2199Asp) NC_000016.10:58525352:T:C Identity +NM_001244644.2:c.90G>C NP_001231573.1:p.Gln30His NC_000003.12:87245799:G:C p.(Gln30His) NC_000003.12:87245799:G:C p.(Gln30His) NC_000003.12:87245799:G:C Identity +NM_001379226.1:c.2543T>G NP_001366155.1:p.Met848Arg NC_000011.10:70486612:A:C p.(Met848Arg) NC_000011.10:70486612:A:C p.(Met848Arg) NC_000011.10:70486612:A:C Identity +NM_004562.3:c.521_522delinsCT NP_004553.2:p.Leu174Pro NC_000006.12:162201142:GA:AG p.(Leu174Pro) NC_000006.12:162201142:GA:AG p.(Leu174Pro) NC_000006.12:162201142:GA:AG Identity +NM_001005271.3:c.2415G>T NP_001005271.2:p.Trp805Cys NC_000017.11:7899096:G:T p.(Trp805Cys) NC_000017.11:7899096:G:T p.(Trp805Cys) NC_000017.11:7899096:G:T Identity +NM_003872.3:c.2515A>G NP_003863.2:p.Thr839Ala NC_000002.12:205794791:A:G p.(Thr839Ala) NC_000002.12:205794791:A:G p.(Thr839Ala) NC_000002.12:205794791:A:G Identity +NM_001315529.2:c.6535G>T NP_001302458.1:p.Ala2179Ser NC_000021.9:46416806:G:T p.(Ala2179Ser) NC_000021.9:46416806:G:T p.(Ala2179Ser) NC_000021.9:46416806:G:T Identity +NM_001024628.3:c.1507G>T NP_001019799.2:p.Gly503Trp NC_000010.11:33213492:C:A p.(Gly503Trp) NC_000010.11:33213492:C:A p.(Gly503Trp) NC_000010.11:33213492:C:A Identity +NM_001127897.4:c.746A>G NP_001121369.1:p.Gln249Arg NC_000016.10:53686462:T:C p.(Gln249Arg) NC_000016.10:53686462:T:C p.(Gln249Arg) NC_000016.10:53686462:T:C Identity +NM_001256850.1:c.48336A>T NP_001243779.1:p.Lys16112Asn NC_000002.12:178607428:T:A p.(Lys16112Asn) NC_000002.12:178607428:T:A p.(Lys16112Asn) NC_000002.12:178607428:T:A Identity +NM_001242581.2:c.844G>T NP_001229510.1:p.Asp282Tyr NC_000020.11:19974721:G:T p.(Asp282Tyr) NC_000020.11:19974721:G:T p.(Asp282Tyr) NC_000020.11:19974721:G:T Identity +NM_000341.4:c.850G>T NP_000332.2:p.Asp284Tyr NC_000002.12:44286115:G:T p.(Asp284Tyr) NC_000002.12:44286115:G:T p.(Asp284Tyr) NC_000002.12:44286115:G:T Identity +NM_001293306.2:c.200A>G NP_001280235.2:p.Tyr67Cys NC_000003.12:38793810:T:C p.(Tyr67Cys) NC_000003.12:38793810:T:C p.(Tyr67Cys) NC_000003.12:38793810:T:C Identity +NM_003482.4:c.8123C>T NP_003473.3:p.Ala2708Val NC_000012.12:49039540:G:A p.(Ala2708Val) NC_000012.12:49039540:G:A p.(Ala2708Val) NC_000012.12:49039540:G:A Identity +NM_001256012.3:c.1716G>C NP_001242941.1:p.Lys572Asn NC_000017.11:8535820:C:G p.(Lys572Asn) NC_000017.11:8535820:C:G p.(Lys572Asn) NC_000017.11:8535820:C:G Identity +NM_001256053.2:c.3058G>C NP_001242982.1:p.Asp1020His NC_000010.11:27035388:C:G p.(Asp1020His) NC_000010.11:27035388:C:G p.(Asp1020His) NC_000010.11:27035388:C:G Identity +NM_001081676.2:c.4678A>C NP_001075145.1:p.Met1560Leu NC_000002.12:165091327:T:G p.(Met1560Leu) NC_000002.12:165091327:T:G p.(Met1560Leu) NC_000002.12:165091327:T:G Identity +NM_002430.3:c.3647T>G NP_002421.3:p.Leu1216Arg NC_000022.11:27796896:A:C p.(Leu1216Arg) NC_000022.11:27796896:A:C p.(Leu1216Arg) NC_000022.11:27796896:A:C Identity +NM_001127453.2:c.112A>C NP_001120925.1:p.Thr38Pro NC_000007.14:24749662:T:G p.(Thr38Pro) NC_000007.14:24749662:T:G p.(Thr38Pro) NC_000007.14:24749662:T:G Identity +NM_000143.4:c.740A>T NP_000134.2:p.Glu247Val NC_000001.11:241506166:T:A p.(Glu247Val) NC_000001.11:241506166:T:A p.(Glu247Val) NC_000001.11:241506166:T:A Identity +NM_144999.4:c.931G>A NP_659436.1:p.Ala311Thr NC_000017.11:82028029:G:A p.(Ala311Thr) NC_000017.11:82028029:G:A p.(Ala311Thr) NC_000017.11:82028029:G:A Identity +NM_001315529.2:c.1770T>G NP_001302458.1:p.His590Gln NC_000021.9:46357160:T:G p.(His590Gln) NC_000021.9:46357160:T:G p.(His590Gln) NC_000021.9:46357160:T:G Identity +NM_000062.3:c.1477G>C NP_000053.2:p.Gly493Arg NC_000011.10:57614554:G:C p.(Gly493Arg) NC_000011.10:57614554:G:C p.(Gly493Arg) NC_000011.10:57614554:G:C Identity +NM_001362843.2:c.1478A>G NP_001349772.1:p.Asn493Ser NC_000022.11:41131582:A:G p.(Asn493Ser) NC_000022.11:41131582:A:G p.(Asn493Ser) NC_000022.11:41131582:A:G Identity +NM_006080.3:c.2141A>G NP_006071.1:p.Asn714Ser NC_000007.14:83961545:T:C p.(Asn714Ser) NC_000007.14:83961545:T:C p.(Asn714Ser) NC_000007.14:83961545:T:C Identity +NM_012479.4:c.532A>G NP_036611.2:p.Asn178Asp NC_000007.14:76329788:T:C p.(Asn178Asp) NC_000007.14:76329788:T:C p.(Asn178Asp) NC_000007.14:76329788:T:C Identity +NM_000341.4:c.1855A>T NP_000332.2:p.Arg619Ter NC_000002.12:44320435:A:T p.(Arg619Ter) NC_000002.12:44320435:A:T p.(Arg619Ter) NC_000002.12:44320435:A:T Identity +NM_000341.4:c.415_418del NP_000332.2:p.Asn139fs NC_000002.12:44275948:GAACG:G p.(Asn139GlufsTer3) NC_000002.12:44275948:GAACG:G p.(Asn139GlufsTer3) NC_000002.12:44275949:AACG: Analogous +NM_001257197.2:c.1676G>A NP_001244126.1:p.Arg559Lys NC_000002.12:224482046:C:T p.(Arg559Lys) NC_000002.12:224482046:C:T p.(Arg559Lys) NC_000002.12:224482046:C:T Identity +NM_000052.7:c.2329C>T NP_000043.4:p.Pro777Ser NC_000023.11:78013034:C:T p.(Pro777Ser) NC_000023.11:78013034:C:T p.(Pro777Ser) NC_000023.11:78013034:C:T Identity +NM_001024843.2:c.796G>A NP_001020014.1:p.Glu266Lys NC_000022.11:40273495:G:A p.(Glu266Lys) NC_000022.11:40273495:G:A p.(Glu266Lys) NC_000022.11:40273495:G:A Identity +NM_001378923.1:c.1664_1665del NP_001365852.1:p.His555fs NC_000009.12:35802227:AT: p.(His555ArgfsTer3) NC_000009.12:35802227:AT: p.(His555ArgfsTer3) NC_000009.12:35802227:AT: Analogous +NM_001005271.3:c.3737G>A NP_001005271.2:p.Arg1246His NC_000017.11:7903335:G:A p.(Arg1246His) NC_000017.11:7903335:G:A p.(Arg1246His) NC_000017.11:7903335:G:A Identity +NM_001290787.2:c.1506G>C NP_001277716.1:p.Lys502Asn NC_000002.12:232483415:C:G p.(Lys502Asn) NC_000002.12:232483415:C:G p.(Lys502Asn) NC_000002.12:232483415:C:G Identity +NM_000516.7:c.175C>G NP_000507.1:p.Gln59Glu NC_000020.11:58895646:C:G p.(Gln59Glu) NC_000020.11:58895646:C:G p.(Gln59Glu) NC_000020.11:58895646:C:G Identity +NM_019066.5:c.313C>A NP_061939.3:p.Pro105Thr NC_000015.10:23647429:G:T p.(Pro105Thr) NC_000015.10:23647429:G:T p.(Pro105Thr) NC_000015.10:23647429:G:T Identity +NM_000425.5:c.3536T>G NP_000416.1:p.Leu1179Arg NC_000023.11:153863373:A:C p.(Leu1179Arg) NC_000023.11:153863373:A:C p.(Leu1179Arg) NC_000023.11:153863373:A:C Identity +NM_001351444.2:c.134C>T NP_001338373.1:p.Ala45Val NC_000006.12:87233339:C:T p.(Ala45Val) NC_000006.12:87233339:C:T p.(Ala45Val) NC_000006.12:87233339:C:T Identity +NM_001256442.2:c.452C>T NP_001243371.1:p.Thr151Ile NC_000016.10:29813505:C:T p.(Thr151Ile) NC_000016.10:29813505:C:T p.(Thr151Ile) NC_000016.10:29813505:C:T Identity +NM_001033053.3:c.2272A>G NP_001028225.1:p.Ile758Val NC_000017.11:5558423:T:C p.(Ile758Val) NC_000017.11:5558423:T:C p.(Ile758Val) NC_000017.11:5558423:T:C Identity +NM_001256071.3:c.10850C>T NP_001243000.2:p.Ala3617Val NC_000017.11:80354563:C:T p.(Ala3617Val) NC_000017.11:80354563:C:T p.(Ala3617Val) NC_000017.11:80354563:C:T Identity +NM_001282403.2:c.314A>G NP_001269332.1:p.Lys105Arg NC_000007.14:76057487:A:G p.(Lys105Arg) NC_000007.14:76057487:A:G p.(Lys105Arg) NC_000007.14:76057487:A:G Identity +NM_001320412.2:c.1082C>T NP_001307341.1:p.Ala361Val NC_000021.9:46145833:G:A p.(Ala361Val) NC_000021.9:46145833:G:A p.(Ala361Val) NC_000021.9:46145833:G:A Identity +NM_198525.3:c.3254T>C NP_940927.2:p.Met1085Thr NC_000015.10:89630350:A:G p.(Met1085Thr) NC_000015.10:89630350:A:G p.(Met1085Thr) NC_000015.10:89630350:A:G Identity +NM_003793.4:c.1379A>T NP_003784.2:p.Lys460Met NC_000011.10:66564088:T:A p.(Lys460Met) NC_000011.10:66564088:T:A p.(Lys460Met) NC_000011.10:66564088:T:A Identity +NM_000813.3:c.2T>C NP_000804.1:p.Met1Thr NC_000005.10:161546641:A:G p.(Met1Thr) NC_000005.10:161546641:A:G p.Met1? NC_000005.10:161546641:A:G Identity +NM_020928.2:c.104G>A NP_065979.1:p.Gly35Asp NC_000005.10:61332375:G:A p.(Gly35Asp) NC_000005.10:61332375:G:A p.(Gly35Asp) NC_000005.10:61332375:G:A Identity +NM_021946.5:c.4773G>A NP_068765.3:p.Met1591Ile NC_000023.11:130051935:G:A p.(Met1591Ile) NC_000023.11:130051935:G:A p.(Met1591Ile) NC_000023.11:130051935:G:A Identity +NM_001128844.3:c.3333C>G NP_001122316.1:p.Ile1111Met NC_000019.10:11027900:C:G p.(Ile1111Met) NC_000019.10:11027900:C:G p.(Ile1111Met) NC_000019.10:11027900:C:G Identity +NM_001314042.2:c.3865C>T NP_001300971.1:p.Arg1289Ter NC_000001.11:202733552:G:A p.(Arg1289Ter) NC_000001.11:202733552:G:A p.(Arg1289Ter) NC_000001.11:202733552:G:A Identity +NM_003184.4:c.770T>C NP_003175.2:p.Leu257Pro NC_000008.11:119801815:A:G p.(Leu257Pro) NC_000008.11:119801815:A:G p.(Leu257Pro) NC_000008.11:119801815:A:G Identity +NM_001170961.2:c.3920C>T NP_001164432.1:p.Thr1307Ile NC_000023.11:131273901:G:A p.(Thr1307Ile) NC_000023.11:131273901:G:A p.(Thr1307Ile) NC_000023.11:131273901:G:A Identity +NM_153252.5:c.4177_4178delinsTT NP_694984.5:p.Asp1393Phe NC_000023.11:80684064:TC:AA p.(Asp1393Phe) NC_000023.11:80684064:TC:AA p.(Asp1393Phe) NC_000023.11:80684064:TC:AA Identity +NM_016312.3:c.445T>C NP_057396.1:p.Ser149Pro NC_000012.12:14795046:A:G p.(Ser149Pro) NC_000012.12:14795046:A:G p.(Ser149Pro) NC_000012.12:14795046:A:G Identity +NM_003482.4:c.12082A>G NP_003473.3:p.Thr4028Ala NC_000012.12:49032622:T:C p.(Thr4028Ala) NC_000012.12:49032622:T:C p.(Thr4028Ala) NC_000012.12:49032622:T:C Identity +NM_001079911.3:c.152G>A NP_001073380.1:p.Ser51Asn NC_000004.12:87661977:G:A p.(Ser51Asn) NC_000004.12:87661977:G:A p.(Ser51Asn) NC_000004.12:87661977:G:A Identity +NM_001394062.1:c.3345T>A NP_001380991.1:p.His1115Gln NC_000001.11:39315586:T:A p.(His1115Gln) NC_000001.11:39315586:T:A p.(His1115Gln) NC_000001.11:39315586:T:A Identity +NM_015335.5:c.1946C>T NP_056150.1:p.Pro649Leu NC_000012.12:116008466:G:A p.(Pro649Leu) NC_000012.12:116008466:G:A p.(Pro649Leu) NC_000012.12:116008466:G:A Identity +NM_001102397.3:c.1571A>G NP_001095867.1:p.Gln524Arg NC_000001.11:23310481:T:C p.(Gln524Arg) NC_000001.11:23310481:T:C p.(Gln524Arg) NC_000001.11:23310481:T:C Identity +NM_006521.6:c.9T>A NP_006512.2:p.His3Gln NC_000023.11:49043217:A:T p.(His3Gln) NC_000023.11:49043217:A:T p.(His3Gln) NC_000023.11:49043217:A:T Identity +NM_003466.4:c.1256T>G NP_003457.1:p.Phe419Cys NC_000002.12:113220111:A:C p.(Phe419Cys) NC_000002.12:113220111:A:C p.(Phe419Cys) NC_000002.12:113220111:A:C Identity +NM_001079872.2:c.914C>G NP_001073341.1:p.Ser305Cys NC_000023.11:120545449:G:C p.(Ser305Cys) NC_000023.11:120545449:G:C p.(Ser305Cys) NC_000023.11:120545449:G:C Identity +NM_001114748.2:c.465G>C NP_001108220.1:p.Met155Ile NC_000001.11:1535415:C:G p.(Met155Ile) NC_000001.11:1535415:C:G p.(Met155Ile) NC_000001.11:1535415:C:G Identity +NM_001378974.1:c.910_914dup NP_001365903.1:p.Cys306fs NC_000005.10:171878067:AGGACAG:AGGACAGGACAG p.(Cys306SerfsTer12) NC_000005.10:171878067:AGGACAG:AGGACAGGACAG p.(Cys306SerfsTer12) ERR:SPDI Analogous +NM_001261414.3:c.1851G>C NP_001248343.1:p.Glu617Asp NC_000012.12:23534296:C:G p.(Glu617Asp) NC_000012.12:23534296:C:G p.(Glu617Asp) NC_000012.12:23534296:C:G Identity +NM_001193307.2:c.236T>C NP_001180236.1:p.Ile79Thr NC_000007.14:93105861:A:G p.(Ile79Thr) NC_000007.14:93105861:A:G p.(Ile79Thr) NC_000007.14:93105861:A:G Identity +NM_000256.3:c.2230G>C NP_000247.2:p.Glu744Gln NC_000011.10:47338597:C:G p.(Glu744Gln) NC_000011.10:47338597:C:G p.(Glu744Gln) NC_000011.10:47338597:C:G Identity +NM_001304815.2:c.3310C>G NP_001291744.1:p.Arg1104Gly NC_000019.10:42287544:C:G p.(Arg1104Gly) NC_000019.10:42287544:C:G p.(Arg1104Gly) NC_000019.10:42287544:C:G Identity +NM_001308392.2:c.1139C>T NP_001295321.1:p.Pro380Leu NC_000016.10:64982161:G:A p.(Pro380Leu) NC_000016.10:64982161:G:A p.(Pro380Leu) NC_000016.10:64982161:G:A Identity +NM_001135659.3:c.2786A>G NP_001129131.1:p.Asp929Gly NC_000002.12:50497545:T:C p.(Asp929Gly) NC_000002.12:50497545:T:C p.(Asp929Gly) NC_000002.12:50497545:T:C Identity +NM_000717.5:c.14T>A NP_000708.1:p.Leu5Gln NC_000017.11:60150047:T:A p.(Leu5Gln) NC_000017.11:60150047:T:A p.(Leu5Gln) NC_000017.11:60150047:T:A Identity +NM_000425.5:c.2239del NP_000416.1:p.Gln747fs NC_000023.11:153866840:GGGGGG:GGGGG p.(Gln747ArgfsTer104) NC_000023.11:153866840:GGGGGG:GGGGG p.(Gln747ArgfsTer104) NC_000023.11:153866840:G: Analogous +NM_033071.5:c.11776C>T NP_149062.2:p.His3926Tyr NC_000006.12:152347147:G:A p.(His3926Tyr) NC_000006.12:152347147:G:A p.(His3926Tyr) NC_000006.12:152347147:G:A Identity +NM_000356.4:c.1170G>C NP_000347.2:p.Gln390His NC_000005.10:150375075:G:C p.(Gln390His) NC_000005.10:150375075:G:C p.(Gln390His) NC_000005.10:150375075:G:C Identity +NM_001005366.2:c.1829G>A NP_001005366.1:p.Arg610His NC_000012.12:121453156:C:T p.(Arg610His) NC_000012.12:121453156:C:T p.(Arg610His) NC_000012.12:121453156:C:T Identity +NM_001283009.2:c.1690C>T NP_001269938.1:p.Pro564Ser NC_000020.11:63688353:C:T p.(Pro564Ser) NC_000020.11:63688353:C:T p.(Pro564Ser) NC_000020.11:63688353:C:T Identity +NM_018838.5:c.244G>T NP_061326.1:p.Val82Leu NC_000012.12:94994182:C:A p.(Val82Leu) NC_000012.12:94994182:C:A p.(Val82Leu) NC_000012.12:94994182:C:A Identity +NM_001111125.3:c.2947G>A NP_001104595.1:p.Asp983Asn NC_000023.11:53241851:C:T p.(Asp983Asn) NC_000023.11:53241851:C:T p.(Asp983Asn) NC_000023.11:53241851:C:T Identity +NM_018026.4:c.541C>A NP_060496.2:p.His181Asn NC_000011.10:66211139:C:A p.(His181Asn) NC_000011.10:66211139:C:A p.(His181Asn) NC_000011.10:66211139:C:A Identity +NM_001413184.1:c.4913C>T NP_001400113.1:p.Pro1638Leu NC_000008.11:67204725:G:A p.(Pro1638Leu) NC_000008.11:67204725:G:A p.(Pro1638Leu) NC_000008.11:67204725:G:A Identity +NM_001297595.2:c.2635G>A NP_001284524.1:p.Glu879Lys NC_000019.10:16876096:G:A p.(Glu879Lys) NC_000019.10:16876096:G:A p.(Glu879Lys) NC_000019.10:16876096:G:A Identity +NM_001220.5:c.1202C>T NP_001211.3:p.Thr401Ile NC_000007.14:44231028:G:A p.(Thr401Ile) NC_000007.14:44231028:G:A p.(Thr401Ile) NC_000007.14:44231028:G:A Identity +NM_001199642.1:c.1456C>G NP_001186571.1:p.Leu486Val NC_000003.12:123304119:G:C p.(Leu486Val) NC_000003.12:123304119:G:C p.(Leu486Val) NC_000003.12:123304119:G:C Identity +NM_001002838.4:c.2428A>G NP_001002838.1:p.Ile810Val NC_000023.11:54251626:T:C p.(Ile810Val) NC_000023.11:54251626:T:C p.(Ile810Val) NC_000023.11:54251626:T:C Identity +NM_016148.5:c.5894C>A NP_057232.2:p.Ala1965Asp NC_000019.10:50662556:G:T p.(Ala1965Asp) NC_000019.10:50662556:G:T p.(Ala1965Asp) NC_000019.10:50662556:G:T Identity +NM_004975.4:c.2190T>A NP_004966.1:p.Ser730Arg NC_000020.11:49373369:A:T p.(Ser730Arg) NC_000020.11:49373369:A:T p.(Ser730Arg) NC_000020.11:49373369:A:T Identity +NM_000489.6:c.5797_5799del NP_000480.3:p.Lys1933del NC_000023.11:77599567:TTTTTT:TTT p.(Lys1933del) NC_000023.11:77599567:TTTTTT:TTT p.(Lys1933del) NC_000023.11:77599567:TTT: Identity +NM_001042681.2:c.2924T>A NP_001036146.1:p.Leu975Gln NC_000001.11:8360582:A:T p.(Leu975Gln) NC_000001.11:8360582:A:T p.(Leu975Gln) NC_000001.11:8360582:A:T Identity +NM_000264.5:c.3889C>G NP_000255.2:p.Arg1297Gly NC_000009.12:95447366:G:C p.(Arg1297Gly) NC_000009.12:95447366:G:C p.(Arg1297Gly) NC_000009.12:95447366:G:C Identity +NM_170606.3:c.14612G>A NP_733751.2:p.Ser4871Asn NC_000007.14:152138826:C:T p.(Ser4871Asn) NC_000007.14:152138826:C:T p.(Ser4871Asn) NC_000007.14:152138826:C:T Identity +NM_001204824.2:c.2159C>T NP_001191753.1:p.Thr720Ile NC_000008.11:132129361:G:A p.(Thr720Ile) NC_000008.11:132129361:G:A p.(Thr720Ile) NC_000008.11:132129361:G:A Identity +NM_014712.3:c.3220C>G NP_055527.1:p.Leu1074Val NC_000016.10:30971580:C:G p.(Leu1074Val) NC_000016.10:30971580:C:G p.(Leu1074Val) NC_000016.10:30971580:C:G Identity +NM_001284214.2:c.2166G>A NP_001271143.1:p.Met722Ile NC_000002.12:229810934:C:T p.(Met722Ile) NC_000002.12:229810934:C:T p.(Met722Ile) NC_000002.12:229810934:C:T Identity +NM_001145412.3:c.53G>A NP_001138884.1:p.Arg18Gln NC_000002.12:177234215:C:T p.(Arg18Gln) NC_000002.12:177234215:C:T p.(Arg18Gln) NC_000002.12:177234215:C:T Identity +NM_001128620.2:c.560C>T NP_001122092.1:p.Pro187Leu NC_000011.10:77358934:G:A p.(Pro187Leu) NC_000011.10:77358934:G:A p.(Pro187Leu) NC_000011.10:77358934:G:A Identity +NM_001397406.1:c.131A>G NP_001384335.1:p.Lys44Arg NC_000019.10:10315865:T:C p.(Lys44Arg) NC_000019.10:10315865:T:C p.(Lys44Arg) NC_000019.10:10315865:T:C Identity +NM_020987.5:c.10023T>A NP_066267.2:p.Asp3341Glu NC_000010.11:60070857:A:T p.(Asp3341Glu) NC_000010.11:60070857:A:T p.(Asp3341Glu) NC_000010.11:60070857:A:T Identity +NM_001042681.2:c.4511C>T NP_001036146.1:p.Pro1504Leu NC_000001.11:8355574:G:A p.(Pro1504Leu) NC_000001.11:8355574:G:A p.(Pro1504Leu) NC_000001.11:8355574:G:A Identity +NM_001280787.1:c.455_464del NP_001267716.1:p.Gly152fs NC_000009.12:133352102:CTGGTTTGCCCT:CT p.(Gly152GlufsTer4) NC_000009.12:133352102:CTGGTTTGCCCT:CT p.(Gly152GlufsTer4) NC_000009.12:133352102:CTGGTTTGCC: Analogous +NM_001142864.4:c.157del NP_001136336.2:p.Gln53fs NC_000016.10:88749386:GG:G p.(Gln53LysfsTer53) NC_000016.10:88749386:GG:G p.(Gln53LysfsTer53) NC_000016.10:88749386:G: Analogous +NM_001165963.4:c.2036A>G NP_001159435.1:p.Asp679Gly NC_000002.12:166043675:T:C p.(Asp679Gly) NC_000002.12:166043675:T:C p.(Asp679Gly) NC_000002.12:166043675:T:C Identity +NM_138459.5:c.645A>C NP_612468.1:p.Gln215His NC_000006.12:117694133:A:C p.(Gln215His) NC_000006.12:117694133:A:C p.(Gln215His) NC_000006.12:117694133:A:C Identity +NM_000424.4:c.545T>C NP_000415.2:p.Phe182Ser NC_000012.12:52519751:A:G p.(Phe182Ser) NC_000012.12:52519751:A:G p.(Phe182Ser) NC_000012.12:52519751:A:G Identity +NM_001172766.3:c.217T>G NP_001166237.1:p.Leu73Val NC_000007.14:114534664:T:G p.(Leu73Val) NC_000007.14:114534664:T:G p.(Leu73Val) NC_000007.14:114534664:T:G Identity +NM_001001323.2:c.100C>G NP_001001323.1:p.Leu34Val NC_000012.12:89655786:G:C p.(Leu34Val) NC_000012.12:89655786:G:C p.(Leu34Val) NC_000012.12:89655786:G:C Identity +NM_014991.6:c.1931T>A NP_055806.2:p.Val644Asp NC_000004.12:84810300:A:T p.(Val644Asp) NC_000004.12:84810300:A:T p.(Val644Asp) NC_000004.12:84810300:A:T Identity +NM_001110556.2:c.4346C>G NP_001104026.1:p.Ser1449Cys NC_000023.11:154359111:G:C p.(Ser1449Cys) NC_000023.11:154359111:G:C p.(Ser1449Cys) NC_000023.11:154359111:G:C Identity +NM_001317799.2:c.1311A>G NP_001304728.1:p.Ile437Met NC_000004.12:122936135:A:G p.(Ile437Met) NC_000004.12:122936135:A:G p.(Ile437Met) NC_000004.12:122936135:A:G Identity +NM_004667.6:c.4391G>A NP_004658.3:p.Gly1464Asp NC_000015.10:28233521:C:T p.(Gly1464Asp) NC_000015.10:28233521:C:T p.(Gly1464Asp) NC_000015.10:28233521:C:T Identity +NM_001077350.3:c.28G>C NP_001070818.1:p.Val10Leu NC_000016.10:138239:C:G p.(Val10Leu) NC_000016.10:138239:C:G p.(Val10Leu) NC_000016.10:138239:C:G Identity +NM_001256850.1:c.17781del NP_001243779.1:p.Lys5927fs NC_000002.12:178729423:TTTTTT:TTTTT p.(Lys5927AsnfsTer4) NC_000002.12:178729423:TTTTTT:TTTTT p.(Lys5927AsnfsTer4) NC_000002.12:178729423:T: Analogous +NM_001256850.1:c.41047A>T NP_001243779.1:p.Lys13683Ter NC_000002.12:178620550:T:A p.(Lys13683Ter) NC_000002.12:178620550:T:A p.(Lys13683Ter) NC_000002.12:178620550:T:A Identity +NM_001349608.2:c.1286A>G NP_001336537.1:p.Asn429Ser NC_000001.11:7663922:A:G p.(Asn429Ser) NC_000001.11:7663922:A:G p.(Asn429Ser) NC_000001.11:7663922:A:G Identity +NM_001174063.2:c.359A>G NP_001167534.1:p.Asp120Gly NC_000008.11:38428434:T:C p.(Asp120Gly) NC_000008.11:38428434:T:C p.(Asp120Gly) NC_000008.11:38428434:T:C Identity +NM_020435.4:c.483_492del NP_065168.2:p.Ala162fs NC_000001.11:228158236:GGGCAGCCGAGGGC:GGGC p.(Ala162ProfsTer45) NC_000001.11:228158236:GGGCAGCCGAGGGC:GGGC p.(Ala162ProfsTer45) NC_000001.11:228158240:AGCCGAGGGC: Analogous +NM_000296.4:c.8707G>A NP_000287.4:p.Ala2903Thr NC_000016.10:2103349:C:T p.(Ala2903Thr) NC_000016.10:2103349:C:T p.(Ala2903Thr) NC_000016.10:2103349:C:T Identity +NM_001286457.2:c.1883G>A NP_001273386.2:p.Gly628Asp NC_000016.10:8902390:C:T p.(Gly628Asp) NC_000016.10:8902390:C:T p.(Gly628Asp) NC_000016.10:8902390:C:T Identity +NM_002473.6:c.423G>C NP_002464.1:p.Lys141Asn NC_000022.11:36341436:C:G p.(Lys141Asn) NC_000022.11:36341436:C:G p.(Lys141Asn) NC_000022.11:36341436:C:G Identity +NM_001142294.2:c.511C>A NP_001135766.1:p.Pro171Thr NC_000013.11:36335319:G:T p.(Pro171Thr) NC_000013.11:36335319:G:T p.(Pro171Thr) NC_000013.11:36335319:G:T Identity +NM_015335.5:c.1307T>C NP_056150.1:p.Val436Ala NC_000012.12:116009105:A:G p.(Val436Ala) NC_000012.12:116009105:A:G p.(Val436Ala) NC_000012.12:116009105:A:G Identity +NM_000068.4:c.439G>C NP_000059.3:p.Glu147Gln NC_000019.10:13452975:C:G p.(Glu147Gln) NC_000019.10:13452975:C:G p.(Glu147Gln) NC_000019.10:13452975:C:G Identity +NM_001271723.2:c.455T>C NP_001258652.1:p.Val152Ala NC_000005.10:148402375:T:C p.(Val152Ala) NC_000005.10:148402375:T:C p.(Val152Ala) NC_000005.10:148402375:T:C Identity +NM_000129.4:c.2071C>T NP_000120.2:p.Gln691Ter NC_000006.12:6145746:G:A p.(Gln691Ter) NC_000006.12:6145746:G:A p.(Gln691Ter) NC_000006.12:6145746:G:A Identity +NM_006662.3:c.5623C>A NP_006653.2:p.Gln1875Lys NC_000016.10:30725046:C:A p.(Gln1875Lys) NC_000016.10:30725046:C:A p.(Gln1875Lys) NC_000016.10:30725046:C:A Identity +NM_001363725.2:c.959G>T NP_001350654.1:p.Ser320Ile NC_000006.12:157174958:G:T p.(Ser320Ile) NC_000006.12:157174958:G:T p.(Ser320Ile) NC_000006.12:157174958:G:T Identity +NM_001164766.2:c.1331C>G NP_001158238.1:p.Ser444Ter NC_000016.10:72798608:G:C p.(Ser444Ter) NC_000016.10:72798608:G:C p.(Ser444Ter) NC_000016.10:72798608:G:C Identity +NM_002820.3:c.166C>T NP_002811.1:p.Arg56Ter NC_000012.12:27963705:G:A p.(Arg56Ter) NC_000012.12:27963705:G:A p.(Arg56Ter) NC_000012.12:27963705:G:A Identity +NM_001167.4:c.997C>T NP_001158.2:p.Gln333Ter NC_000023.11:123891256:C:T p.(Gln333Ter) NC_000023.11:123891256:C:T p.(Gln333Ter) NC_000023.11:123891256:C:T Identity +NM_007118.4:c.5134C>A NP_009049.2:p.Pro1712Thr NC_000005.10:14419951:C:A p.(Pro1712Thr) NC_000005.10:14419951:C:A p.(Pro1712Thr) NC_000005.10:14419951:C:A Identity +NM_001242559.2:c.3329C>G NP_001229488.1:p.Pro1110Arg NC_000002.12:101887229:C:G p.(Pro1110Arg) NC_000002.12:101887229:C:G p.(Pro1110Arg) NC_000002.12:101887229:C:G Identity +NM_001025087.2:c.578G>T NP_001020258.1:p.Gly193Val NC_000018.10:37274883:C:A p.(Gly193Val) NC_000018.10:37274883:C:A p.(Gly193Val) NC_000018.10:37274883:C:A Identity +NM_001372065.1:c.4028A>C NP_001358994.1:p.Lys1343Thr NC_000011.10:134158334:T:G p.(Lys1343Thr) NC_000011.10:134158334:T:G p.(Lys1343Thr) NC_000011.10:134158334:T:G Identity +NM_001077397.1:c.1089G>A NP_001070865.1:p.Trp363Ter NC_000001.11:234607763:C:T p.(Trp363Ter) NC_000001.11:234607763:C:T p.(Trp363Ter) NC_000001.11:234607763:C:T Identity +NM_001278463.2:c.1798C>T NP_001265392.1:p.Pro600Ser NC_000012.12:32740186:C:T p.(Pro600Ser) NC_000012.12:32740186:C:T p.(Pro600Ser) NC_000012.12:32740186:C:T Identity +NM_000884.3:c.550G>A NP_000875.2:p.Asp184Asn NC_000003.12:49027028:C:T p.(Asp184Asn) NC_000003.12:49027028:C:T p.(Asp184Asn) NC_000003.12:49027028:C:T Identity +NM_001164342.2:c.1915T>G NP_001157814.1:p.Cys639Gly NC_000003.12:114339315:A:C p.(Cys639Gly) NC_000003.12:114339315:A:C p.(Cys639Gly) NC_000003.12:114339315:A:C Identity +NM_001231.5:c.1033C>T NP_001222.3:p.Gln345Ter NC_000001.11:160199898:C:T p.(Gln345Ter) NC_000001.11:160199898:C:T p.(Gln345Ter) NC_000001.11:160199898:C:T Identity +NM_001068.3:c.4573A>C NP_001059.2:p.Ile1525Leu NC_000003.12:25601126:T:G p.(Ile1525Leu) NC_000003.12:25601126:T:G p.(Ile1525Leu) NC_000003.12:25601126:T:G Identity +NM_001365276.2:c.1238G>A NP_001352205.1:p.Arg413His NC_000006.12:32096614:C:T p.(Arg413His) NC_000006.12:32096614:C:T p.(Arg413His) NC_000006.12:32096614:C:T Identity +NM_006766.5:c.4916T>C NP_006757.2:p.Val1639Ala NC_000008.11:41933303:A:G p.(Val1639Ala) NC_000008.11:41933303:A:G p.(Val1639Ala) NC_000008.11:41933303:A:G Identity +NM_000127.3:c.1154T>A NP_000118.2:p.Leu385Ter NC_000008.11:117835453:A:T p.(Leu385Ter) NC_000008.11:117835453:A:T p.(Leu385Ter) NC_000008.11:117835453:A:T Identity +NM_000044.6:c.2612C>G NP_000035.2:p.Ala871Gly NC_000023.11:67723689:C:G p.(Ala871Gly) NC_000023.11:67723689:C:G p.(Ala871Gly) NC_000023.11:67723689:C:G Identity +NM_000813.3:c.344T>C NP_000804.1:p.Leu115Pro NC_000005.10:161459737:A:G p.(Leu115Pro) NC_000005.10:161459737:A:G p.(Leu115Pro) NC_000005.10:161459737:A:G Identity +NM_001393501.1:c.1126G>A NP_001380430.1:p.Glu376Lys NC_000019.10:18128422:G:A p.(Glu376Lys) NC_000019.10:18128422:G:A p.(Glu376Lys) NC_000019.10:18128422:G:A Identity +NM_001379245.1:c.3272A>C NP_001366174.1:p.Glu1091Ala NC_000013.11:35159442:A:C p.(Glu1091Ala) NC_000013.11:35159442:A:C p.(Glu1091Ala) NC_000013.11:35159442:A:C Identity +NM_001256850.1:c.67086del NP_001243779.1:p.Asn22362fs NC_000002.12:178574122:A: p.(Asn22362LysfsTer27) NC_000002.12:178574122:A: p.(Asn22362LysfsTer27) NC_000002.12:178574122:A: Analogous +NM_001256850.1:c.80251dup NP_001243779.1:p.Ala26751fs NC_000002.12:178560957:CCC:CCCC p.(Ala26751GlyfsTer8) NC_000002.12:178560957:CCC:CCCC p.(Ala26751GlyfsTer8) ERR:SPDI Analogous +NM_001256850.1:c.92364del NP_001243779.1:p.Ala30789fs NC_000002.12:178542468:A: p.(Ala30789LeufsTer3) NC_000002.12:178542468:A: p.(Ala30789LeufsTer3) NC_000002.12:178542468:A: Analogous +NM_001025366.3:c.506C>A NP_001020537.2:p.Ala169Glu NC_000006.12:43771211:C:A p.(Ala169Glu) NC_000006.12:43771211:C:A p.(Ala169Glu) NC_000006.12:43771211:C:A Identity +NM_001082486.2:c.139C>T NP_001075955.2:p.His47Tyr NC_000016.10:67660005:G:A p.(His47Tyr) NC_000016.10:67660005:G:A p.(His47Tyr) NC_000016.10:67660005:G:A Identity +NM_001282531.3:c.2507A>G NP_001269460.1:p.His836Arg NC_000020.11:50892206:T:C p.(His836Arg) NC_000020.11:50892206:T:C p.(His836Arg) NC_000020.11:50892206:T:C Identity +NM_000414.4:c.2130del NP_000405.1:p.Phe710fs NC_000005.10:119541910:TTT:TT p.(Phe710LeufsTer5) NC_000005.10:119541910:TTT:TT p.(Phe710LeufsTer5) NC_000005.10:119541912:T: Analogous +NM_001103.4:c.1392C>G NP_001094.1:p.Ile464Met NC_000001.11:236744761:C:G p.(Ile464Met) NC_000001.11:236744761:C:G p.(Ile464Met) NC_000001.11:236744761:C:G Identity +NM_206933.4:c.12434C>T NP_996816.3:p.Pro4145Leu NC_000001.11:215675476:G:A p.(Pro4145Leu) NC_000001.11:215675476:G:A p.(Pro4145Leu) NC_000001.11:215675476:G:A Identity +NM_001256627.2:c.1961T>C NP_001243556.1:p.Met654Thr NC_000011.10:1459212:T:C p.(Met654Thr) NC_000011.10:1459212:T:C p.(Met654Thr) NC_000011.10:1459212:T:C Identity +NM_001346279.2:c.386A>G NP_001333208.1:p.Asn129Ser NC_000011.10:10755678:A:G p.(Asn129Ser) NC_000011.10:10755678:A:G p.(Asn129Ser) NC_000011.10:10755678:A:G Identity +NM_019066.5:c.2069C>T NP_061939.3:p.Pro690Leu NC_000015.10:23645673:G:A p.(Pro690Leu) NC_000015.10:23645673:G:A p.(Pro690Leu) NC_000015.10:23645673:G:A Identity +NM_015046.7:c.6321A>G NP_055861.3:p.Ile2107Met NC_000009.12:132288238:T:C p.(Ile2107Met) NC_000009.12:132288238:T:C p.(Ile2107Met) NC_000009.12:132288238:T:C Identity +NM_016343.4:c.4519T>C NP_057427.3:p.Ser1507Pro NC_000001.11:214642856:T:C p.(Ser1507Pro) NC_000001.11:214642856:T:C p.(Ser1507Pro) NC_000001.11:214642856:T:C Identity +NM_000033.4:c.929A>T NP_000024.2:p.Tyr310Phe NC_000023.11:153729259:A:T p.(Tyr310Phe) NC_000023.11:153729259:A:T p.(Tyr310Phe) NC_000023.11:153729259:A:T Identity +NM_001294347.2:c.1289G>T NP_001281276.1:p.Gly430Val NC_000001.11:36098196:C:A p.(Gly430Val) NC_000001.11:36098196:C:A p.(Gly430Val) NC_000001.11:36098196:C:A Identity +NM_000441.2:c.2161A>G NP_000432.1:p.Thr721Ala NC_000007.14:107710124:A:G p.(Thr721Ala) NC_000007.14:107710124:A:G p.(Thr721Ala) NC_000007.14:107710124:A:G Identity +NM_001256850.1:c.56755_56762del NP_001243779.1:p.Gly18919fs NC_000002.12:178590039:GCTGAACC: p.(Gly18919HisfsTer3) NC_000002.12:178590039:GCTGAACC: p.(Gly18919HisfsTer3) NC_000002.12:178590039:GCTGAACC: Analogous +NM_001160708.2:c.375G>C NP_001154180.1:p.Gln125His NC_000012.12:106378318:G:C p.(Gln125His) NC_000012.12:106378318:G:C p.(Gln125His) NC_000012.12:106378318:G:C Identity +NM_014991.6:c.867C>G NP_055806.2:p.Phe289Leu NC_000004.12:84829092:G:C p.(Phe289Leu) NC_000004.12:84829092:G:C p.(Phe289Leu) NC_000004.12:84829092:G:C Identity +NM_001256850.1:c.73916del NP_001243779.1:p.Asn24639fs NC_000002.12:178567292:TTT:TT p.(Asn24639MetfsTer2) NC_000002.12:178567292:TTT:TT p.(Asn24639MetfsTer2) NC_000002.12:178567292:T: Analogous +NM_032588.4:c.68G>A NP_115977.2:p.Cys23Tyr NC_000001.11:26067426:C:T p.(Cys23Tyr) NC_000001.11:26067426:C:T p.(Cys23Tyr) NC_000001.11:26067426:C:T Identity +NM_006012.4:c.137G>T NP_006003.1:p.Arg46Leu NC_000019.10:6361710:G:T p.(Arg46Leu) NC_000019.10:6361710:G:T p.(Arg46Leu) NC_000019.10:6361710:G:T Identity +NM_001256627.2:c.937C>G NP_001243556.1:p.Arg313Gly NC_000011.10:1445417:C:G p.(Arg313Gly) NC_000011.10:1445417:C:G p.(Arg313Gly) NC_000011.10:1445417:C:G Identity +NM_001411051.1:c.722G>A NP_001397980.1:p.Arg241His NC_000014.9:96856141:G:A p.(Arg241His) NC_000014.9:96856141:G:A p.(Arg241His) NC_000014.9:96856141:G:A Identity +NM_001267550.2:c.10617C>A NP_001254479.2:p.Cys3539Ter NC_000002.12:178757602:G:T p.(Cys3539Ter) NC_000002.12:178757602:G:T p.(Cys3539Ter) NC_000002.12:178757602:G:T Identity +NM_001256850.1:c.76553del NP_001243779.1:p.Ser25518fs NC_000002.12:178564655:C: p.(Ser25518ThrfsTer31) NC_000002.12:178564655:C: p.(Ser25518ThrfsTer31) NC_000002.12:178564655:C: Analogous +NM_000462.5:c.169T>G NP_000453.2:p.Cys57Gly NC_000015.10:25375665:A:C p.(Cys57Gly) NC_000015.10:25375665:A:C p.(Cys57Gly) NC_000015.10:25375665:A:C Identity +NM_000081.4:c.5681A>T NP_000072.2:p.Glu1894Val NC_000001.11:235773944:T:A p.(Glu1894Val) NC_000001.11:235773944:T:A p.(Glu1894Val) NC_000001.11:235773944:T:A Identity +NM_001025366.3:c.491del NP_001020537.2:p.Ser164fs NC_000006.12:43771196:G: p.(Ser164ThrfsTer18) NC_000006.12:43771196:G: p.(Ser164ThrfsTer18) NC_000006.12:43771196:G: Analogous +NM_001308133.2:c.1278A>T NP_001295062.1:p.Lys426Asn NC_000014.9:45155418:A:T p.(Lys426Asn) NC_000014.9:45155418:A:T p.(Lys426Asn) NC_000014.9:45155418:A:T Identity +NM_001256849.1:c.247A>G NP_001243778.1:p.Thr83Ala NC_000019.10:50399414:A:G p.(Thr83Ala) NC_000019.10:50399414:A:G p.(Thr83Ala) NC_000019.10:50399414:A:G Identity +NM_001386500.1:c.212T>G NP_001373429.1:p.Ile71Ser NC_000001.11:11258543:A:C p.(Ile71Ser) NC_000001.11:11258543:A:C p.(Ile71Ser) NC_000001.11:11258543:A:C Identity +NM_001105206.3:c.2466T>G NP_001098676.2:p.Ile822Met NC_000006.12:112144820:A:C p.(Ile822Met) NC_000006.12:112144820:A:C p.(Ile822Met) NC_000006.12:112144820:A:C Identity +NM_001304811.2:c.169A>C NP_001291740.1:p.Ile57Leu NC_000012.12:4536025:T:G p.(Ile57Leu) NC_000012.12:4536025:T:G p.(Ile57Leu) NC_000012.12:4536025:T:G Identity +NM_001303496.3:c.1670G>A NP_001290425.1:p.Gly557Glu NC_000007.14:93134301:C:T p.(Gly557Glu) NC_000007.14:93134301:C:T p.(Gly557Glu) NC_000007.14:93134301:C:T Identity +NM_001413184.1:c.2106A>G NP_001400113.1:p.Ile702Met NC_000008.11:67266022:T:C p.(Ile702Met) NC_000008.11:67266022:T:C p.(Ile702Met) NC_000008.11:67266022:T:C Identity +NM_001410732.1:c.258G>A NP_001397661.1:p.Trp86Ter NC_000004.12:55359381:G:A p.(Trp86Ter) NC_000004.12:55359381:G:A p.(Trp86Ter) NC_000004.12:55359381:G:A Identity +NM_001256053.2:c.3662G>A NP_001242982.1:p.Arg1221Lys NC_000010.11:27033366:C:T p.(Arg1221Lys) NC_000010.11:27033366:C:T p.(Arg1221Lys) NC_000010.11:27033366:C:T Identity +NM_001393501.1:c.850G>C NP_001380430.1:p.Glu284Gln NC_000019.10:18124130:G:C p.(Glu284Gln) NC_000019.10:18124130:G:C p.(Glu284Gln) NC_000019.10:18124130:G:C Identity +NM_001424113.1:c.2340G>C NP_001411042.1:p.Glu780Asp NC_000006.12:75177759:C:G p.(Glu780Asp) NC_000006.12:75177759:C:G p.(Glu780Asp) NC_000006.12:75177759:C:G Identity +NM_003276.2:c.1729G>A NP_003267.1:p.Ala577Thr NC_000012.12:98533985:G:A p.(Ala577Thr) NC_000012.12:98533985:G:A p.(Ala577Thr) NC_000012.12:98533985:G:A Identity +NM_001195248.2:c.707T>C NP_001182177.2:p.Val236Ala NC_000009.12:32984693:A:G p.(Val236Ala) NC_000009.12:32984693:A:G p.(Val236Ala) NC_000009.12:32984693:A:G Identity +NM_001363734.1:c.1593G>T NP_001350663.1:p.Gln531His NC_000020.11:32434487:G:T p.(Gln531His) NC_000020.11:32434487:G:T p.(Gln531His) NC_000020.11:32434487:G:T Identity +NM_003907.3:c.325T>G NP_003898.2:p.Ser109Ala NC_000003.12:184137623:T:G p.(Ser109Ala) NC_000003.12:184137623:T:G p.(Ser109Ala) NC_000003.12:184137623:T:G Identity +NM_015057.5:c.5207G>A NP_055872.4:p.Ser1736Asn NC_000013.11:77177880:C:T p.(Ser1736Asn) NC_000013.11:77177880:C:T p.(Ser1736Asn) NC_000013.11:77177880:C:T Identity +NM_001171162.1:c.3100G>A NP_001164633.1:p.Glu1034Lys NC_000023.11:71244445:C:T p.(Glu1034Lys) NC_000023.11:71244445:C:T p.(Glu1034Lys) NC_000023.11:71244445:C:T Identity +NM_001374313.2:c.965C>G NP_001361242.1:p.Thr322Ser NC_000009.12:127672051:C:G p.(Thr322Ser) NC_000009.12:127672051:C:G p.(Thr322Ser) NC_000009.12:127672051:C:G Identity +NM_015057.5:c.433C>A NP_055872.4:p.Pro145Thr NC_000013.11:77288321:G:T p.(Pro145Thr) NC_000013.11:77288321:G:T p.(Pro145Thr) NC_000013.11:77288321:G:T Identity +NM_014727.3:c.3133C>G NP_055542.1:p.Pro1045Ala NC_000019.10:35723805:C:G p.(Pro1045Ala) NC_000019.10:35723805:C:G p.(Pro1045Ala) NC_000019.10:35723805:C:G Identity +NM_005632.3:c.470C>T NP_005623.1:p.Thr157Met NC_000016.10:547307:C:T p.(Thr157Met) NC_000016.10:547307:C:T p.(Thr157Met) NC_000016.10:547307:C:T Identity +NM_000435.3:c.2906G>C NP_000426.2:p.Arg969Pro NC_000019.10:15181048:C:G p.(Arg969Pro) NC_000019.10:15181048:C:G p.(Arg969Pro) NC_000019.10:15181048:C:G Identity +NM_000059.4:c.8192A>T NP_000050.3:p.Gln2731Leu NC_000013.11:32363393:A:T p.(Gln2731Leu) NC_000013.11:32363393:A:T p.(Gln2731Leu) NC_000013.11:32363393:A:T Identity +NM_020987.5:c.10829A>G NP_066267.2:p.Glu3610Gly NC_000010.11:60070051:T:C p.(Glu3610Gly) NC_000010.11:60070051:T:C p.(Glu3610Gly) NC_000010.11:60070051:T:C Identity +NM_170606.3:c.7364A>G NP_733751.2:p.Tyr2455Cys NC_000007.14:152179911:T:C p.(Tyr2455Cys) NC_000007.14:152179911:T:C p.(Tyr2455Cys) NC_000007.14:152179911:T:C Identity +NM_001349370.3:c.2423A>G NP_001336299.1:p.Tyr808Cys NC_000003.12:47122080:T:C p.(Tyr808Cys) NC_000003.12:47122080:T:C p.(Tyr808Cys) NC_000003.12:47122080:T:C Identity +NM_001040439.2:c.3214G>C NP_001035529.1:p.Glu1072Gln NC_000016.10:1767294:G:C p.(Glu1072Gln) NC_000016.10:1767294:G:C p.(Glu1072Gln) NC_000016.10:1767294:G:C Identity +NM_004975.4:c.1422G>C NP_004966.1:p.Lys474Asn NC_000020.11:49374137:C:G p.(Lys474Asn) NC_000020.11:49374137:C:G p.(Lys474Asn) NC_000020.11:49374137:C:G Identity +NM_001244808.3:c.670A>G NP_001231737.1:p.Ile224Val NC_000003.12:71041526:T:C p.(Ile224Val) NC_000003.12:71041526:T:C p.(Ile224Val) NC_000003.12:71041526:T:C Identity +NM_001378183.1:c.895C>A NP_001365112.1:p.Pro299Thr NC_000018.10:10855374:G:T p.(Pro299Thr) NC_000018.10:10855374:G:T p.(Pro299Thr) NC_000018.10:10855374:G:T Identity +NM_001368395.3:c.2746C>G NP_001355324.1:p.Leu916Val NC_000023.11:12717093:C:G p.(Leu916Val) NC_000023.11:12717093:C:G p.(Leu916Val) NC_000023.11:12717093:C:G Identity +NM_001286577.2:c.5491G>A NP_001273506.1:p.Gly1831Arg NC_000011.10:74048208:C:T p.(Gly1831Arg) NC_000011.10:74048208:C:T p.(Gly1831Arg) NC_000011.10:74048208:C:T Identity +NM_001363656.2:c.744G>T NP_001350585.1:p.Met248Ile NC_000019.10:52219842:G:T p.(Met248Ile) NC_000019.10:52219842:G:T p.(Met248Ile) NC_000019.10:52219842:G:T Identity +NM_001267722.2:c.1577G>A NP_001254651.1:p.Arg526Gln NC_000004.12:56500616:G:A p.(Arg526Gln) NC_000004.12:56500616:G:A p.(Arg526Gln) NC_000004.12:56500616:G:A Identity +NM_001430120.1:c.53A>T NP_001417049.1:p.Asn18Ile NC_000015.10:89333756:T:A p.(Asn18Ile) NC_000015.10:89333756:T:A p.(Asn18Ile) NC_000015.10:89333756:T:A Identity +NM_001372106.1:c.12933dup NP_001359035.1:p.Ile4312fs NC_000012.12:123931651:T:TT p.(Ile4312TyrfsTer5) NC_000012.12:123931651:T:TT p.(Ile4312TyrfsTer5) ERR:SPDI Analogous +NM_001348321.1:c.3667A>G NP_001335250.1:p.Ile1223Val NC_000002.12:229796742:T:C p.(Ile1223Val) NC_000002.12:229796742:T:C p.(Ile1223Val) NC_000002.12:229796742:T:C Identity +NM_001081676.2:c.2780T>C NP_001075145.1:p.Leu927Pro NC_000002.12:165128096:A:G p.(Leu927Pro) NC_000002.12:165128096:A:G p.(Leu927Pro) NC_000002.12:165128096:A:G Identity +NM_002235.5:c.848C>T NP_002226.1:p.Ser283Phe NC_000012.12:4810888:C:T p.(Ser283Phe) NC_000012.12:4810888:C:T p.(Ser283Phe) NC_000012.12:4810888:C:T Identity +NM_001142605.2:c.73C>A NP_001136077.1:p.His25Asn NC_000017.11:44886677:G:T p.(His25Asn) NC_000017.11:44886677:G:T p.(His25Asn) NC_000017.11:44886677:G:T Identity +NM_000092.5:c.664C>T NP_000083.3:p.Pro222Ser NC_000002.12:227108861:G:A p.(Pro222Ser) NC_000002.12:227108861:G:A p.(Pro222Ser) NC_000002.12:227108861:G:A Identity +NM_001144964.1:c.1453A>G NP_001138436.1:p.Lys485Glu NC_000018.10:58364315:A:G p.(Lys485Glu) NC_000018.10:58364315:A:G p.(Lys485Glu) NC_000018.10:58364315:A:G Identity +NM_020778.5:c.3742G>C NP_065829.4:p.Asp1248His NC_000015.10:84858479:G:C p.(Asp1248His) NC_000015.10:84858479:G:C p.(Asp1248His) NC_000015.10:84858479:G:C Identity +NM_004184.4:c.1274T>C NP_004175.2:p.Met425Thr NC_000014.9:100335016:A:G p.(Met425Thr) NC_000014.9:100335016:A:G p.(Met425Thr) NC_000014.9:100335016:A:G Identity +NM_001368062.3:c.2713C>T NP_001354991.2:p.Pro905Ser NC_000012.12:80278198:C:T p.(Pro905Ser) NC_000012.12:80278198:C:T p.(Pro905Ser) NC_000012.12:80278198:C:T Identity +NM_001164144.3:c.2021C>T NP_001157616.1:p.Thr674Ile NC_000013.11:114325862:C:T p.(Thr674Ile) NC_000013.11:114325862:C:T p.(Thr674Ile) NC_000013.11:114325862:C:T Identity +NM_001271427.2:c.838C>G NP_001258356.1:p.Gln280Glu NC_000001.11:19239933:G:C p.(Gln280Glu) NC_000001.11:19239933:G:C p.(Gln280Glu) NC_000001.11:19239933:G:C Identity +NM_001276289.2:c.172G>A NP_001263218.1:p.Glu58Lys NC_000017.11:68515570:G:A p.(Glu58Lys) NC_000017.11:68515570:G:A p.(Glu58Lys) NC_000017.11:68515570:G:A Identity +NM_138694.4:c.6901G>A NP_619639.3:p.Val2301Met NC_000006.12:51903691:C:T p.(Val2301Met) NC_000006.12:51903691:C:T p.(Val2301Met) NC_000006.12:51903691:C:T Identity +NM_002496.4:c.424C>T NP_002487.1:p.Arg142Cys NC_000011.10:68036303:C:T p.(Arg142Cys) NC_000011.10:68036303:C:T p.(Arg142Cys) NC_000011.10:68036303:C:T Identity +NM_001167733.3:c.961G>T NP_001161205.1:p.Val321Leu NC_000006.12:30920419:G:T p.(Val321Leu) NC_000006.12:30920419:G:T p.(Val321Leu) NC_000006.12:30920419:G:T Identity +NM_001363711.2:c.1001A>C NP_001350640.1:p.Gln334Pro NC_000015.10:45110466:T:G p.(Gln334Pro) NC_000015.10:45110466:T:G p.(Gln334Pro) NC_000015.10:45110466:T:G Identity +NM_014865.4:c.3635A>C NP_055680.3:p.Gln1212Pro NC_000012.12:6529574:A:C p.(Gln1212Pro) NC_000012.12:6529574:A:C p.(Gln1212Pro) NC_000012.12:6529574:A:C Identity +NM_001329729.2:c.902T>A NP_001316658.1:p.Val301Asp NC_000016.10:50084253:T:A p.(Val301Asp) NC_000016.10:50084253:T:A p.(Val301Asp) NC_000016.10:50084253:T:A Identity +NM_000709.4:c.772T>C NP_000700.1:p.Cys258Arg NC_000019.10:41422288:T:C p.(Cys258Arg) NC_000019.10:41422288:T:C p.(Cys258Arg) NC_000019.10:41422288:T:C Identity +NM_000296.4:c.7211G>A NP_000287.4:p.Arg2404Gln NC_000016.10:2106675:C:T p.(Arg2404Gln) NC_000016.10:2106675:C:T p.(Arg2404Gln) NC_000016.10:2106675:C:T Identity +NM_016239.4:c.3892G>A NP_057323.3:p.Ala1298Thr NC_000017.11:18126815:G:A p.(Ala1298Thr) NC_000017.11:18126815:G:A p.(Ala1298Thr) NC_000017.11:18126815:G:A Identity +NM_000326.5:c.700C>G NP_000317.1:p.Arg234Gly NC_000015.10:89210793:G:C p.(Arg234Gly) NC_000015.10:89210793:G:C p.(Arg234Gly) NC_000015.10:89210793:G:C Identity +NM_138694.4:c.128A>T NP_619639.3:p.Asp43Val NC_000006.12:52083179:T:A p.(Asp43Val) NC_000006.12:52083179:T:A p.(Asp43Val) NC_000006.12:52083179:T:A Identity +NM_000089.4:c.242A>G NP_000080.2:p.Tyr81Cys NC_000007.14:94401582:A:G p.(Tyr81Cys) NC_000007.14:94401582:A:G p.(Tyr81Cys) NC_000007.14:94401582:A:G Identity +NM_000256.3:c.755del NP_000247.2:p.Phe252fs NC_000011.10:47348440:AA:A p.(Phe252SerfsTer48) NC_000011.10:47348440:AA:A p.(Phe252SerfsTer48) NC_000011.10:47348440:A: Analogous +NM_005413.4:c.362C>A NP_005404.1:p.Ala121Glu NC_000002.12:44942465:C:A p.(Ala121Glu) NC_000002.12:44942465:C:A p.(Ala121Glu) NC_000002.12:44942465:C:A Identity +NM_001282622.3:c.236C>A NP_001269551.1:p.Thr79Lys NC_000023.11:53218390:G:T p.(Thr79Lys) NC_000023.11:53218390:G:T p.(Thr79Lys) NC_000023.11:53218390:G:T Identity +NM_001171162.1:c.355C>G NP_001164633.1:p.Gln119Glu NC_000023.11:71252900:G:C p.(Gln119Glu) NC_000023.11:71252900:G:C p.(Gln119Glu) NC_000023.11:71252900:G:C Identity +NM_001350529.1:c.183G>A NP_001337458.1:p.Met61Ile NC_000001.11:150333058:G:A p.(Met61Ile) NC_000001.11:150333058:G:A p.(Met61Ile) NC_000001.11:150333058:G:A Identity +NM_020719.3:c.4963AAG[1] NP_065770.1:p.Lys1656del NC_000019.10:49614947:AAGAAG:AAG p.(Lys1656del) NC_000019.10:49614947:A:AAG ERR:Parse ERR:Parse Identity +NM_001321079.2:c.176C>A NP_001308008.1:p.Thr59Asn NC_000017.11:42727722:G:T p.(Thr59Asn) NC_000017.11:42727722:G:T p.(Thr59Asn) NC_000017.11:42727722:G:T Identity +NM_170606.3:c.4744G>C NP_733751.2:p.Gly1582Arg NC_000007.14:152187763:C:G p.(Gly1582Arg) NC_000007.14:152187763:C:G p.(Gly1582Arg) NC_000007.14:152187763:C:G Identity +NM_000138.5:c.797T>C NP_000129.3:p.Val266Ala NC_000015.10:48534144:A:G p.(Val266Ala) NC_000015.10:48534144:A:G p.(Val266Ala) NC_000015.10:48534144:A:G Identity +NM_006755.2:c.732C>G NP_006746.1:p.Ile244Met NC_000011.10:763840:C:G p.(Ile244Met) NC_000011.10:763840:C:G p.(Ile244Met) NC_000011.10:763840:C:G Identity +NM_001317964.2:c.991A>G NP_001304893.1:p.Met331Val NC_000005.10:146153916:T:C p.(Met331Val) NC_000005.10:146153916:T:C p.(Met331Val) NC_000005.10:146153916:T:C Identity +NM_020928.2:c.2869G>T NP_065979.1:p.Val957Leu NC_000005.10:61543537:G:T p.(Val957Leu) NC_000005.10:61543537:G:T p.(Val957Leu) NC_000005.10:61543537:G:T Identity +NM_001257281.2:c.677A>T NP_001244210.1:p.Glu226Val NC_000002.12:232130693:A:T p.(Glu226Val) NC_000002.12:232130693:A:T p.(Glu226Val) NC_000002.12:232130693:A:T Identity +NM_207346.3:c.1066C>T NP_997229.2:p.His356Tyr NC_000017.11:75522146:C:T p.(His356Tyr) NC_000017.11:75522146:C:T p.(His356Tyr) NC_000017.11:75522146:C:T Identity +NM_006445.4:c.214G>A NP_006436.3:p.Asp72Asn NC_000017.11:1683587:C:T p.(Asp72Asn) NC_000017.11:1683587:C:T p.(Asp72Asn) NC_000017.11:1683587:C:T Identity +NM_001146006.2:c.1558C>T NP_001139478.1:p.Gln520Ter NC_000016.10:1790973:G:A p.(Gln520Ter) NC_000016.10:1790973:G:A p.(Gln520Ter) NC_000016.10:1790973:G:A Identity +NM_001371656.1:c.743G>A NP_001358585.1:p.Ser248Asn NC_000006.12:156778422:G:A p.(Ser248Asn) NC_000006.12:156778422:G:A p.(Ser248Asn) NC_000006.12:156778422:G:A Identity +NM_001166660.2:c.688G>A NP_001160132.1:p.Glu230Lys NC_000023.11:71164222:G:A p.(Glu230Lys) NC_000023.11:71164222:G:A p.(Glu230Lys) NC_000023.11:71164222:G:A Identity +NM_006766.5:c.4754G>A NP_006757.2:p.Ser1585Asn NC_000008.11:41933465:C:T p.(Ser1585Asn) NC_000008.11:41933465:C:T p.(Ser1585Asn) NC_000008.11:41933465:C:T Identity +NM_000068.4:c.6116A>G NP_000059.3:p.Gln2039Arg NC_000019.10:13212474:T:C p.(Gln2039Arg) NC_000019.10:13212474:T:C p.(Gln2039Arg) NC_000019.10:13212474:T:C Identity +NM_015335.5:c.1598C>T NP_056150.1:p.Ser533Phe NC_000012.12:116008814:G:A p.(Ser533Phe) NC_000012.12:116008814:G:A p.(Ser533Phe) NC_000012.12:116008814:G:A Identity +NM_016148.5:c.4357C>T NP_057232.2:p.Pro1453Ser NC_000019.10:50667602:G:A p.(Pro1453Ser) NC_000019.10:50667602:G:A p.(Pro1453Ser) NC_000019.10:50667602:G:A Identity +NM_001098209.2:c.1820T>C NP_001091679.1:p.Ile607Thr NC_000003.12:41236364:T:C p.(Ile607Thr) NC_000003.12:41236364:T:C p.(Ile607Thr) NC_000003.12:41236364:T:C Identity +NM_001410908.1:c.1454A>G NP_001397837.1:p.Tyr485Cys NC_000007.14:105090103:A:G p.(Tyr485Cys) NC_000007.14:105090103:A:G p.(Tyr485Cys) NC_000007.14:105090103:A:G Identity +NM_000381.4:c.874C>T NP_000372.1:p.Leu292Phe NC_000023.11:10482618:G:A p.(Leu292Phe) NC_000023.11:10482618:G:A p.(Leu292Phe) NC_000023.11:10482618:G:A Identity +NM_000339.3:c.2198T>C NP_000330.3:p.Met733Thr NC_000016.10:56887943:T:C p.(Met733Thr) NC_000016.10:56887943:T:C p.(Met733Thr) NC_000016.10:56887943:T:C Identity +NM_001330635.3:c.3046G>T NP_001317564.1:p.Gly1016Ter NC_000001.11:70038968:G:T p.(Gly1016Ter) NC_000001.11:70038968:G:T p.(Gly1016Ter) NC_000001.11:70038968:G:T Identity +NM_002235.5:c.1261A>G NP_002226.1:p.Thr421Ala NC_000012.12:4811301:A:G p.(Thr421Ala) NC_000012.12:4811301:A:G p.(Thr421Ala) NC_000012.12:4811301:A:G Identity +NM_001122821.2:c.535T>G NP_001116293.1:p.Leu179Val NC_000009.12:128693640:T:G p.(Leu179Val) NC_000009.12:128693640:T:G p.(Leu179Val) NC_000009.12:128693640:T:G Identity +NM_001199107.2:c.565A>C NP_001186036.1:p.Lys189Gln NC_000016.10:2496712:A:C p.(Lys189Gln) NC_000016.10:2496712:A:C p.(Lys189Gln) NC_000016.10:2496712:A:C Identity +NM_001114634.2:c.1025C>T NP_001108106.1:p.Ala342Val NC_000008.11:56166720:G:A p.(Ala342Val) NC_000008.11:56166720:G:A p.(Ala342Val) NC_000008.11:56166720:G:A Identity +NM_001367479.1:c.5582C>A NP_001354408.1:p.Thr1861Lys NC_000001.11:225185336:C:A p.(Thr1861Lys) NC_000001.11:225185336:C:A p.(Thr1861Lys) NC_000001.11:225185336:C:A Identity +NM_002470.4:c.1917G>C NP_002461.2:p.Lys639Asn NC_000017.11:10642281:C:G p.(Lys639Asn) NC_000017.11:10642281:C:G p.(Lys639Asn) NC_000017.11:10642281:C:G Identity +NM_001145661.2:c.1432G>A NP_001139133.1:p.Ala478Thr NC_000003.12:128481029:C:T p.(Ala478Thr) NC_000003.12:128481029:C:T p.(Ala478Thr) NC_000003.12:128481029:C:T Identity +NM_017649.5:c.2251C>A NP_060119.3:p.Pro751Thr NC_000010.11:103076102:C:A p.(Pro751Thr) NC_000010.11:103076102:C:A p.(Pro751Thr) NC_000010.11:103076102:C:A Identity +NM_003737.4:c.7520C>T NP_003728.1:p.Thr2507Ile NC_000011.10:6624155:G:A p.(Thr2507Ile) NC_000011.10:6624155:G:A p.(Thr2507Ile) NC_000011.10:6624155:G:A Identity +NM_025216.3:c.409G>A NP_079492.2:p.Ala137Thr NC_000002.12:218890015:G:A p.(Ala137Thr) NC_000002.12:218890015:G:A p.(Ala137Thr) NC_000002.12:218890015:G:A Identity +NM_000355.4:c.185G>A NP_000346.2:p.Ser62Asn NC_000022.11:30610990:G:A p.(Ser62Asn) NC_000022.11:30610990:G:A p.(Ser62Asn) NC_000022.11:30610990:G:A Identity +NM_001265612.2:c.4492G>A NP_001252541.1:p.Ala1498Thr NC_000016.10:58542495:C:T p.(Ala1498Thr) NC_000016.10:58542495:C:T p.(Ala1498Thr) NC_000016.10:58542495:C:T Identity +NM_001318785.2:c.956A>T NP_001305714.1:p.Gln319Leu NC_000006.12:87518198:T:A p.(Gln319Leu) NC_000006.12:87518198:T:A p.(Gln319Leu) NC_000006.12:87518198:T:A Identity +NM_000109.4:c.9985T>A NP_000100.3:p.Cys3329Ser NC_000023.11:31180446:A:T p.(Cys3329Ser) NC_000023.11:31180446:A:T p.(Cys3329Ser) NC_000023.11:31180446:A:T Identity +NM_006767.4:c.190G>C NP_006758.2:p.Val64Leu NC_000022.11:20982560:G:C p.(Val64Leu) NC_000022.11:20982560:G:C p.(Val64Leu) NC_000022.11:20982560:G:C Identity +NM_001282688.2:c.550G>A NP_001269617.1:p.Ala184Thr NC_000009.12:89326016:G:A p.(Ala184Thr) NC_000009.12:89326016:G:A p.(Ala184Thr) NC_000009.12:89326016:G:A Identity +NM_014516.4:c.1735C>T NP_055331.1:p.Pro579Ser NC_000019.10:54152456:C:T p.(Pro579Ser) NC_000019.10:54152456:C:T p.(Pro579Ser) NC_000019.10:54152456:C:T Identity +NM_001320893.1:c.2137_2138del NP_001307822.1:p.Glu713fs NC_000002.12:25235709:TC: p.(Glu713LysfsTer11) NC_000002.12:25235709:TC: p.(Glu713LysfsTer11) NC_000002.12:25235709:TC: Analogous +NM_019066.5:c.1450C>A NP_061939.3:p.Pro484Thr NC_000015.10:23646292:G:T p.(Pro484Thr) NC_000015.10:23646292:G:T p.(Pro484Thr) NC_000015.10:23646292:G:T Identity +NM_001690.4:c.1113T>G NP_001681.2:p.Asp371Glu NC_000003.12:113795090:T:G p.(Asp371Glu) NC_000003.12:113795090:T:G p.(Asp371Glu) NC_000003.12:113795090:T:G Identity +NM_001347997.2:c.1085G>A NP_001334926.1:p.Arg362Lys NC_000009.12:106924996:G:A p.(Arg362Lys) NC_000009.12:106924996:G:A p.(Arg362Lys) NC_000009.12:106924996:G:A Identity +NM_001314042.2:c.1546T>C NP_001300971.1:p.Cys516Arg NC_000001.11:202755370:A:G p.(Cys516Arg) NC_000001.11:202755370:A:G p.(Cys516Arg) NC_000001.11:202755370:A:G Identity +NM_001005366.2:c.232C>T NP_001005366.1:p.Arg78Ter NC_000012.12:121575805:G:A p.(Arg78Ter) NC_000012.12:121575805:G:A p.(Arg78Ter) NC_000012.12:121575805:G:A Identity +NM_002524.5:c.542G>A NP_002515.1:p.Cys181Tyr NC_000001.11:114708562:C:T p.(Cys181Tyr) NC_000001.11:114708562:C:T p.(Cys181Tyr) NC_000001.11:114708562:C:T Identity +NM_000443.4:c.1355C>T NP_000434.1:p.Thr452Ile NC_000007.14:87443319:G:A p.(Thr452Ile) NC_000007.14:87443319:G:A p.(Thr452Ile) NC_000007.14:87443319:G:A Identity +NM_001256850.1:c.24656_24657del NP_001243779.1:p.Lys8219fs NC_000002.12:178717125:TTTT:TT p.(Lys8219ArgfsTer17) NC_000002.12:178717125:TTTT:TT p.(Lys8219ArgfsTer17) NC_000002.12:178717125:TT: Analogous +NM_007118.4:c.4700A>G NP_009049.2:p.Asn1567Ser NC_000005.10:14401047:A:G p.(Asn1567Ser) NC_000005.10:14401047:A:G p.(Asn1567Ser) NC_000005.10:14401047:A:G Identity +NM_002641.4:c.764C>T NP_002632.1:p.Pro255Leu NC_000023.11:15325997:G:A p.(Pro255Leu) NC_000023.11:15325997:G:A p.(Pro255Leu) NC_000023.11:15325997:G:A Identity +NM_000348.4:c.88C>T NP_000339.2:p.Pro30Ser NC_000002.12:31580812:G:A p.(Pro30Ser) NC_000002.12:31580812:G:A p.(Pro30Ser) NC_000002.12:31580812:G:A Identity +NM_001042749.2:c.457G>A NP_001036214.1:p.Asp153Asn NC_000023.11:124042639:G:A p.(Asp153Asn) NC_000023.11:124042639:G:A p.(Asp153Asn) NC_000023.11:124042639:G:A Identity +NM_001166425.2:c.708C>A NP_001159897.1:p.Asp236Glu NC_000003.12:50257031:C:A p.(Asp236Glu) NC_000003.12:50257031:C:A p.(Asp236Glu) NC_000003.12:50257031:C:A Identity +NM_000214.3:c.3124C>A NP_000205.1:p.Arg1042Ser NC_000020.11:10640857:G:T p.(Arg1042Ser) NC_000020.11:10640857:G:T p.(Arg1042Ser) NC_000020.11:10640857:G:T Identity +NM_001365684.2:c.4171C>T NP_001352613.2:p.Leu1391Phe NC_000005.10:177260065:C:T p.(Leu1391Phe) NC_000005.10:177260065:C:T p.(Leu1391Phe) NC_000005.10:177260065:C:T Identity +NM_006662.3:c.6190A>G NP_006653.2:p.Ile2064Val NC_000016.10:30733341:A:G p.(Ile2064Val) NC_000016.10:30733341:A:G p.(Ile2064Val) NC_000016.10:30733341:A:G Identity +NM_001128168.3:c.350A>G NP_001121640.1:p.Tyr117Cys NC_000023.11:111146530:A:G p.(Tyr117Cys) NC_000023.11:111146530:A:G p.(Tyr117Cys) NC_000023.11:111146530:A:G Identity +NM_001079812.3:c.1916A>T NP_001073280.1:p.Asp639Val NC_000005.10:141573906:T:A p.(Asp639Val) NC_000005.10:141573906:T:A p.(Asp639Val) NC_000005.10:141573906:T:A Identity +NM_000089.4:c.2465G>T NP_000080.2:p.Arg822Leu NC_000007.14:94423017:G:T p.(Arg822Leu) NC_000007.14:94423017:G:T p.(Arg822Leu) NC_000007.14:94423017:G:T Identity +NM_001308276.2:c.1397T>G NP_001295205.1:p.Phe466Cys NC_000010.11:93797669:T:G p.(Phe466Cys) NC_000010.11:93797669:T:G p.(Phe466Cys) NC_000010.11:93797669:T:G Identity +NM_001365999.1:c.6713C>T NP_001352928.1:p.Ala2238Val NC_000001.11:43439013:C:T p.(Ala2238Val) NC_000001.11:43439013:C:T p.(Ala2238Val) NC_000001.11:43439013:C:T Identity +NM_000138.5:c.6239A>C NP_000129.3:p.Lys2080Thr NC_000015.10:48437841:T:G p.(Lys2080Thr) NC_000015.10:48437841:T:G p.(Lys2080Thr) NC_000015.10:48437841:T:G Identity +NM_032888.4:c.2260G>A NP_116277.2:p.Gly754Ser NC_000009.12:114206287:G:A p.(Gly754Ser) NC_000009.12:114206287:G:A p.(Gly754Ser) NC_000009.12:114206287:G:A Identity +NM_000828.5:c.1470G>A NP_000819.4:p.Trp490Ter NC_000023.11:123404883:G:A p.(Trp490Ter) NC_000023.11:123404883:G:A p.(Trp490Ter) NC_000023.11:123404883:G:A Identity +NM_001267722.2:c.1556T>A NP_001254651.1:p.Met519Lys NC_000004.12:56500595:T:A p.(Met519Lys) NC_000004.12:56500595:T:A p.(Met519Lys) NC_000004.12:56500595:T:A Identity +NM_001042681.2:c.3220G>A NP_001036146.1:p.Ala1074Thr NC_000001.11:8360286:C:T p.(Ala1074Thr) NC_000001.11:8360286:C:T p.(Ala1074Thr) NC_000001.11:8360286:C:T Identity +NM_000369.5:c.1538C>T NP_000360.2:p.Thr513Met NC_000014.9:81143595:C:T p.(Thr513Met) NC_000014.9:81143595:C:T p.(Thr513Met) NC_000014.9:81143595:C:T Identity +NM_001394372.1:c.50A>G NP_001381301.1:p.Gln17Arg NC_000019.10:47673727:A:G p.(Gln17Arg) NC_000019.10:47673727:A:G p.(Gln17Arg) NC_000019.10:47673727:A:G Identity +NM_032888.4:c.3259G>A NP_116277.2:p.Gly1087Arg NC_000009.12:114264932:G:A p.(Gly1087Arg) NC_000009.12:114264932:G:A p.(Gly1087Arg) NC_000009.12:114264932:G:A Identity +NM_017934.7:c.4898A>C NP_060404.4:p.Lys1633Thr NC_000006.12:78941260:T:G p.(Lys1633Thr) NC_000006.12:78941260:T:G p.(Lys1633Thr) NC_000006.12:78941260:T:G Identity +NM_000520.6:c.161C>T NP_000511.2:p.Ala54Val NC_000015.10:72375811:G:A p.(Ala54Val) NC_000015.10:72375811:G:A p.(Ala54Val) NC_000015.10:72375811:G:A Identity +NM_001329906.2:c.9dup NP_001316835.1:p.Phe4fs NC_000010.11:70435768:T:TT p.(Phe4IlefsTer141) NC_000010.11:70435768:T:TT p.(Phe4IlefsTer141) ERR:SPDI Analogous +NM_171998.4:c.266T>G NP_741995.1:p.Phe89Cys NC_000023.11:155261178:A:C p.(Phe89Cys) NC_000023.11:155261178:A:C p.(Phe89Cys) NC_000023.11:155261178:A:C Identity +NM_024312.5:c.490G>T NP_077288.2:p.Ala164Ser NC_000012.12:101786092:C:A p.(Ala164Ser) NC_000012.12:101786092:C:A p.(Ala164Ser) NC_000012.12:101786092:C:A Identity +NM_001197181.2:c.1066G>A NP_001184110.1:p.Ala356Thr NC_000016.10:89935732:G:A p.(Ala356Thr) NC_000016.10:89935732:G:A p.(Ala356Thr) NC_000016.10:89935732:G:A Identity +NM_001203247.2:c.1048C>A NP_001190176.1:p.Pro350Thr NC_000007.14:148818053:G:T p.(Pro350Thr) NC_000007.14:148818053:G:T p.(Pro350Thr) NC_000007.14:148818053:G:T Identity +NM_004459.7:c.4117T>G NP_004450.3:p.Ser1373Ala NC_000017.11:67911622:T:G p.(Ser1373Ala) NC_000017.11:67911622:T:G p.(Ser1373Ala) NC_000017.11:67911622:T:G Identity +NM_001351527.2:c.6742A>G NP_001338456.1:p.Arg2248Gly NC_000009.12:132278169:T:C p.(Arg2248Gly) NC_000009.12:132278169:T:C p.(Arg2248Gly) NC_000009.12:132278169:T:C Identity +NM_001142929.2:c.1756T>G NP_001136401.2:p.Ser586Ala NC_000010.11:49664908:T:G p.(Ser586Ala) NC_000010.11:49664908:T:G p.(Ser586Ala) NC_000010.11:49664908:T:G Identity +NM_002133.3:c.73C>T NP_002124.1:p.His25Tyr NC_000022.11:35383154:C:T p.(His25Tyr) NC_000022.11:35383154:C:T p.(His25Tyr) NC_000022.11:35383154:C:T Identity +NM_000458.4:c.282G>T NP_000449.1:p.Glu94Asp NC_000017.11:37744602:C:A p.(Glu94Asp) NC_000017.11:37744602:C:A p.(Glu94Asp) NC_000017.11:37744602:C:A Identity +NM_001282622.3:c.4259A>G NP_001269551.1:p.Gln1420Arg NC_000023.11:53193491:T:C p.(Gln1420Arg) NC_000023.11:53193491:T:C p.(Gln1420Arg) NC_000023.11:53193491:T:C Identity +NM_006662.3:c.7616C>T NP_006653.2:p.Ser2539Leu NC_000016.10:30737655:C:T p.(Ser2539Leu) NC_000016.10:30737655:C:T p.(Ser2539Leu) NC_000016.10:30737655:C:T Identity +NM_025205.5:c.19G>A NP_079481.2:p.Gly7Ser NC_000004.12:17614672:G:A p.(Gly7Ser) NC_000004.12:17614672:G:A p.(Gly7Ser) NC_000004.12:17614672:G:A Identity +NM_001369369.1:c.1168del NP_001356298.1:p.Glu390fs NC_000017.11:28534738:G: p.(Glu390LysfsTer160) NC_000017.11:28534738:G: p.(Glu390LysfsTer160) NC_000017.11:28534738:G: Analogous +NM_000245.4:c.2797G>A NP_000236.2:p.Gly933Arg NC_000007.14:116771563:G:A p.(Gly933Arg) NC_000007.14:116771563:G:A p.(Gly933Arg) NC_000007.14:116771563:G:A Identity +NM_003128.3:c.995A>T NP_003119.2:p.Asn332Ile NC_000002.12:54622417:A:T p.(Asn332Ile) NC_000002.12:54622417:A:T p.(Asn332Ile) NC_000002.12:54622417:A:T Identity +NM_001282539.2:c.295T>C NP_001269468.1:p.Trp99Arg NC_000001.11:1804553:A:G p.(Trp99Arg) NC_000001.11:1804553:A:G p.(Trp99Arg) NC_000001.11:1804553:A:G Identity +NM_001080477.4:c.667C>T NP_001073946.1:p.Pro223Ser NC_000004.12:182601078:C:T p.(Pro223Ser) NC_000004.12:182601078:C:T p.(Pro223Ser) NC_000004.12:182601078:C:T Identity +NM_001303496.3:c.4031T>G NP_001290425.1:p.Leu1344Trp NC_000007.14:93131940:A:C p.(Leu1344Trp) NC_000007.14:93131940:A:C p.(Leu1344Trp) NC_000007.14:93131940:A:C Identity +NM_001273.5:c.1326_1328del NP_001264.2:p.Glu444del NC_000012.12:6599926:TCTTC:TC p.(Glu444del) NC_000012.12:6599926:TCTTC:TC p.(Glu444del) NC_000012.12:6599926:TCT: Identity +NM_001384732.1:c.2225G>C NP_001371661.1:p.Trp742Ser NC_000005.10:37226369:C:G p.(Trp742Ser) NC_000005.10:37226369:C:G p.(Trp742Ser) NC_000005.10:37226369:C:G Identity +NM_005208.5:c.51G>C NP_005199.2:p.Lys17Asn NC_000017.11:29249160:G:C p.(Lys17Asn) NC_000017.11:29249160:G:C p.(Lys17Asn) NC_000017.11:29249160:G:C Identity +NM_001039590.3:c.6104C>T NP_001034679.2:p.Pro2035Leu NC_000023.11:41217237:C:T p.(Pro2035Leu) NC_000023.11:41217237:C:T p.(Pro2035Leu) NC_000023.11:41217237:C:T Identity +NM_001170961.2:c.673T>C NP_001164432.1:p.Tyr225His NC_000023.11:131283258:A:G p.(Tyr225His) NC_000023.11:131283258:A:G p.(Tyr225His) NC_000023.11:131283258:A:G Identity +NM_017617.5:c.3086C>T NP_060087.3:p.Pro1029Leu NC_000009.12:136508954:G:A p.(Pro1029Leu) NC_000009.12:136508954:G:A p.(Pro1029Leu) NC_000009.12:136508954:G:A Identity +NM_000057.4:c.2524C>G NP_000048.1:p.Leu842Val NC_000015.10:90769554:C:G p.(Leu842Val) NC_000015.10:90769554:C:G p.(Leu842Val) NC_000015.10:90769554:C:G Identity +NM_001024934.2:c.358C>A NP_001020105.1:p.Pro120Thr NC_000006.12:110108591:G:T p.(Pro120Thr) NC_000006.12:110108591:G:T p.(Pro120Thr) NC_000006.12:110108591:G:T Identity +NM_000020.3:c.587G>A NP_000011.2:p.Arg196Lys NC_000012.12:51914034:G:A p.(Arg196Lys) NC_000012.12:51914034:G:A p.(Arg196Lys) NC_000012.12:51914034:G:A Identity +NM_001110556.2:c.7826T>C NP_001104026.1:p.Val2609Ala NC_000023.11:154348966:A:G p.(Val2609Ala) NC_000023.11:154348966:A:G p.(Val2609Ala) NC_000023.11:154348966:A:G Identity +NM_001220.5:c.430C>A NP_001211.3:p.Leu144Met NC_000007.14:44243511:G:T p.(Leu144Met) NC_000007.14:44243511:G:T p.(Leu144Met) NC_000007.14:44243511:G:T Identity +NM_001185075.2:c.406G>C NP_001172004.1:p.Asp136His NC_000023.11:147928793:G:C p.(Asp136His) NC_000023.11:147928793:G:C p.(Asp136His) NC_000023.11:147928793:G:C Identity +NM_001242857.3:c.167C>A NP_001229786.1:p.Thr56Asn NC_000001.11:84182236:C:A p.(Thr56Asn) NC_000001.11:84182236:C:A p.(Thr56Asn) NC_000001.11:84182236:C:A Identity +NM_001376.5:c.2005C>T NP_001367.2:p.Leu669Phe NC_000014.9:101986229:C:T p.(Leu669Phe) NC_000014.9:101986229:C:T p.(Leu669Phe) NC_000014.9:101986229:C:T Identity +NM_133259.4:c.7G>C NP_573566.2:p.Ala3Pro NC_000002.12:43995940:C:G p.(Ala3Pro) NC_000002.12:43995940:C:G p.(Ala3Pro) NC_000002.12:43995940:C:G Identity +NM_001040142.2:c.880T>C NP_001035232.1:p.Ser294Pro NC_000002.12:165310504:T:C p.(Ser294Pro) NC_000002.12:165310504:T:C p.(Ser294Pro) NC_000002.12:165310504:T:C Identity +NM_001136257.2:c.613C>T NP_001129729.1:p.Arg205Ter NC_000004.12:107903271:C:T p.(Arg205Ter) NC_000004.12:107903271:C:T p.(Arg205Ter) NC_000004.12:107903271:C:T Identity +NM_001317184.2:c.1720A>T NP_001304113.1:p.Ser574Cys NC_000016.10:68822191:A:T p.(Ser574Cys) NC_000016.10:68822191:A:T p.(Ser574Cys) NC_000016.10:68822191:A:T Identity +NM_001080114.2:c.985C>G NP_001073583.1:p.Pro329Ala NC_000010.11:86716409:C:G p.(Pro329Ala) NC_000010.11:86716409:C:G p.(Pro329Ala) NC_000010.11:86716409:C:G Identity +NM_000136.3:c.244G>A NP_000127.2:p.Ala82Thr NC_000009.12:95247437:C:T p.(Ala82Thr) NC_000009.12:95247437:C:T p.(Ala82Thr) NC_000009.12:95247437:C:T Identity +NM_001135651.3:c.53G>A NP_001129123.1:p.Arg18His NC_000002.12:37147753:C:T p.(Arg18His) NC_000002.12:37147753:C:T p.(Arg18His) NC_000002.12:37147753:C:T Identity +NM_001003694.2:c.1054G>T NP_001003694.1:p.Val352Leu NC_000003.12:9739452:G:T p.(Val352Leu) NC_000003.12:9739452:G:T p.(Val352Leu) NC_000003.12:9739452:G:T Identity +NM_004586.3:c.2116A>G NP_004577.1:p.Thr706Ala NC_000023.11:20155504:T:C p.(Thr706Ala) NC_000023.11:20155504:T:C p.(Thr706Ala) NC_000023.11:20155504:T:C Identity +NM_001197104.2:c.8860G>A NP_001184033.1:p.Val2954Ile NC_000011.10:118504751:G:A p.(Val2954Ile) NC_000011.10:118504751:G:A p.(Val2954Ile) NC_000011.10:118504751:G:A Identity +NM_014975.3:c.1159G>A NP_055790.1:p.Ala387Thr NC_000019.10:12858531:G:A p.(Ala387Thr) NC_000019.10:12858531:G:A p.(Ala387Thr) NC_000019.10:12858531:G:A Identity +NM_001127897.4:c.1253A>C NP_001121369.1:p.Glu418Ala NC_000016.10:53658868:T:G p.(Glu418Ala) NC_000016.10:53658868:T:G p.(Glu418Ala) NC_000016.10:53658868:T:G Identity +NM_001256053.2:c.4783T>C NP_001242982.1:p.Ser1595Pro NC_000010.11:27013048:A:G p.(Ser1595Pro) NC_000010.11:27013048:A:G p.(Ser1595Pro) NC_000010.11:27013048:A:G Identity +NM_198586.3:c.772C>A NP_940988.2:p.Gln258Lys NC_000006.12:18121834:G:T p.(Gln258Lys) NC_000006.12:18121834:G:T p.(Gln258Lys) NC_000006.12:18121834:G:T Identity +NM_001202464.3:c.320A>C NP_001189393.1:p.Tyr107Ser NC_000010.11:236880:A:C p.(Tyr107Ser) NC_000010.11:236880:A:C p.(Tyr107Ser) NC_000010.11:236880:A:C Identity +NM_001190709.2:c.1912C>A NP_001177638.1:p.Pro638Thr NC_000001.11:103002760:G:T p.(Pro638Thr) NC_000001.11:103002760:G:T p.(Pro638Thr) NC_000001.11:103002760:G:T Identity +NM_001287499.2:c.1613A>G NP_001274428.1:p.Lys538Arg NC_000007.14:2601444:A:G p.(Lys538Arg) NC_000007.14:2601444:A:G p.(Lys538Arg) NC_000007.14:2601444:A:G Identity +NM_000532.5:c.1276A>C NP_000523.2:p.Lys426Gln NC_000003.12:136327231:A:C p.(Lys426Gln) NC_000003.12:136327231:A:C p.(Lys426Gln) NC_000003.12:136327231:A:C Identity +NM_000208.4:c.528A>C NP_000199.2:p.Lys176Asn NC_000019.10:7267468:T:G p.(Lys176Asn) NC_000019.10:7267468:T:G p.(Lys176Asn) NC_000019.10:7267468:T:G Identity +NM_001115113.3:c.719A>G NP_001108585.2:p.Tyr240Cys NC_000001.11:224419612:T:C p.(Tyr240Cys) NC_000001.11:224419612:T:C p.(Tyr240Cys) NC_000001.11:224419612:T:C Identity +NM_001304482.2:c.638T>G NP_001291411.1:p.Val213Gly NC_000003.12:47407708:T:G p.(Val213Gly) NC_000003.12:47407708:T:G p.(Val213Gly) NC_000003.12:47407708:T:G Identity +NM_001413184.1:c.446T>A NP_001400113.1:p.Leu149Gln NC_000008.11:67299221:A:T p.(Leu149Gln) NC_000008.11:67299221:A:T p.(Leu149Gln) NC_000008.11:67299221:A:T Identity +NM_001710.6:c.1816G>A NP_001701.2:p.Ala606Thr NC_000006.12:31950904:G:A p.(Ala606Thr) NC_000006.12:31950904:G:A p.(Ala606Thr) NC_000006.12:31950904:G:A Identity +NM_001448.3:c.335T>G NP_001439.2:p.Leu112Arg NC_000023.11:133324520:A:C p.(Leu112Arg) NC_000023.11:133324520:A:C p.(Leu112Arg) NC_000023.11:133324520:A:C Identity +NM_001354989.2:c.3205G>C NP_001341918.1:p.Val1069Leu NC_000005.10:180616380:C:G p.(Val1069Leu) NC_000005.10:180616380:C:G p.(Val1069Leu) NC_000005.10:180616380:C:G Identity +NM_001174081.3:c.1124A>C NP_001167552.1:p.Glu375Ala NC_000019.10:54982821:A:C p.(Glu375Ala) NC_000019.10:54982821:A:C p.(Glu375Ala) NC_000019.10:54982821:A:C Identity +NM_001193416.3:c.320T>C NP_001180345.1:p.Ile107Thr NC_000023.11:41342529:T:C p.(Ile107Thr) NC_000023.11:41342529:T:C p.(Ile107Thr) NC_000023.11:41342529:T:C Identity +NM_001099952.4:c.4544G>C NP_001093422.2:p.Gly1515Ala NC_000003.12:4702863:G:C p.(Gly1515Ala) NC_000003.12:4702863:G:C p.(Gly1515Ala) NC_000003.12:4702863:G:C Identity +NM_000202.8:c.958G>C NP_000193.1:p.Asp320His NC_000023.11:149490361:C:G p.(Asp320His) NC_000023.11:149490361:C:G p.(Asp320His) NC_000023.11:149490361:C:G Identity +NM_001127660.2:c.504C>A NP_001121132.1:p.His168Gln NC_000001.11:11997325:C:A p.(His168Gln) NC_000001.11:11997325:C:A p.(His168Gln) NC_000001.11:11997325:C:A Identity +NM_001190964.4:c.1823G>T NP_001177893.1:p.Cys608Phe NC_000013.11:20027289:G:T p.(Cys608Phe) NC_000013.11:20027289:G:T p.(Cys608Phe) NC_000013.11:20027289:G:T Identity +NM_001411020.1:c.3553C>T NP_001397949.1:p.Pro1185Ser NC_000014.9:50118690:G:A p.(Pro1185Ser) NC_000014.9:50118690:G:A p.(Pro1185Ser) NC_000014.9:50118690:G:A Identity +NM_001303052.2:c.805G>A NP_001289981.1:p.Ala269Thr NC_000002.12:1922963:C:T p.(Ala269Thr) NC_000002.12:1922963:C:T p.(Ala269Thr) NC_000002.12:1922963:C:T Identity +NM_001170629.2:c.559G>A NP_001164100.1:p.Ala187Thr NC_000014.9:21431084:C:T p.(Ala187Thr) NC_000014.9:21431084:C:T p.(Ala187Thr) NC_000014.9:21431084:C:T Identity +NM_001347721.2:c.2035A>C NP_001334650.1:p.Asn679His NC_000021.9:37512300:A:C p.(Asn679His) NC_000021.9:37512300:A:C p.(Asn679His) NC_000021.9:37512300:A:C Identity +NM_001079846.1:c.5426A>C NP_001073315.1:p.Lys1809Thr NC_000016.10:3729506:T:G p.(Lys1809Thr) NC_000016.10:3729506:T:G p.(Lys1809Thr) NC_000016.10:3729506:T:G Identity +NM_000899.5:c.566C>A NP_000890.1:p.Ala189Glu NC_000012.12:88515571:G:T p.(Ala189Glu) NC_000012.12:88515571:G:T p.(Ala189Glu) NC_000012.12:88515571:G:T Identity +NM_001270476.2:c.1136_1137del NP_001257405.1:p.Pro379fs NC_000006.12:43010914:CT: p.(Pro379ArgfsTer12) NC_000006.12:43010914:CT: p.(Pro379ArgfsTer12) NC_000006.12:43010914:CT: Analogous +NM_001412914.1:c.59T>C NP_001399843.1:p.Ile20Thr NC_000012.12:48941036:A:G p.(Ile20Thr) NC_000012.12:48941036:A:G p.(Ile20Thr) NC_000012.12:48941036:A:G Identity +NM_000718.4:c.2938C>G NP_000709.1:p.Arg980Gly NC_000009.12:138023680:C:G p.(Arg980Gly) NC_000009.12:138023680:C:G p.(Arg980Gly) NC_000009.12:138023680:C:G Identity +NM_014244.5:c.3394G>C NP_055059.2:p.Val1132Leu NC_000005.10:179114108:C:G p.(Val1132Leu) NC_000005.10:179114108:C:G p.(Val1132Leu) NC_000005.10:179114108:C:G Identity +NM_001413184.1:c.923C>A NP_001400113.1:p.Ser308Tyr NC_000008.11:67288058:G:T p.(Ser308Tyr) NC_000008.11:67288058:G:T p.(Ser308Tyr) NC_000008.11:67288058:G:T Identity +NM_015057.5:c.4559T>C NP_055872.4:p.Leu1520Ser NC_000013.11:77185262:A:G p.(Leu1520Ser) NC_000013.11:77185262:A:G p.(Leu1520Ser) NC_000013.11:77185262:A:G Identity +NM_000533.5:c.62C>T NP_000524.3:p.Ala21Val NC_000023.11:103785638:C:T p.(Ala21Val) NC_000023.11:103785638:C:T p.(Ala21Val) NC_000023.11:103785638:C:T Identity +NM_001042603.3:c.2902del NP_001036068.1:p.Arg968fs NC_000012.12:313189:T: p.(Arg968GlyfsTer7) NC_000012.12:313189:T: p.(Arg968GlyfsTer7) NC_000012.12:313189:T: Analogous +NM_016312.3:c.1237C>T NP_057396.1:p.Leu413Phe NC_000012.12:14790527:G:A p.(Leu413Phe) NC_000012.12:14790527:G:A p.(Leu413Phe) NC_000012.12:14790527:G:A Identity +NM_001244580.2:c.6691A>C NP_001231509.1:p.Ser2231Arg NC_000007.14:98962309:A:C p.(Ser2231Arg) NC_000007.14:98962309:A:C p.(Ser2231Arg) NC_000007.14:98962309:A:C Identity +NM_001377456.1:c.2T>G NP_001364385.1:p.Met1Arg NC_000016.10:56519860:A:C p.(Met1Arg) NC_000016.10:56519860:A:C p.Met1? NC_000016.10:56519860:A:C Identity +NM_020791.4:c.492G>C NP_065842.1:p.Gln164His NC_000017.11:29480409:G:C p.(Gln164His) NC_000017.11:29480409:G:C p.(Gln164His) NC_000017.11:29480409:G:C Identity +NM_001290048.2:c.1472A>G NP_001276977.1:p.Tyr491Cys NC_000011.10:63631052:T:C p.(Tyr491Cys) NC_000011.10:63631052:T:C p.(Tyr491Cys) NC_000011.10:63631052:T:C Identity +NM_001148.6:c.4468C>T NP_001139.3:p.His1490Tyr NC_000004.12:113353085:C:T p.(His1490Tyr) NC_000004.12:113353085:C:T p.(His1490Tyr) NC_000004.12:113353085:C:T Identity +NM_015346.4:c.2563A>T NP_056161.2:p.Thr855Ser NC_000014.9:67790763:T:A p.(Thr855Ser) NC_000014.9:67790763:T:A p.(Thr855Ser) NC_000014.9:67790763:T:A Identity +NM_001358921.2:c.934G>A NP_001345850.1:p.Ala312Thr NC_000004.12:83267602:C:T p.(Ala312Thr) NC_000004.12:83267602:C:T p.(Ala312Thr) NC_000004.12:83267602:C:T Identity +NM_001009999.3:c.1673C>G NP_001009999.1:p.Ala558Gly NC_000001.11:23073341:C:G p.(Ala558Gly) NC_000001.11:23073341:C:G p.(Ala558Gly) NC_000001.11:23073341:C:G Identity +NM_001256532.1:c.119A>T NP_001243461.1:p.Glu40Val NC_000001.11:155610458:A:T p.(Glu40Val) NC_000001.11:155610458:A:T p.(Glu40Val) NC_000001.11:155610458:A:T Identity +NM_001415.4:c.353C>T NP_001406.1:p.Pro118Leu NC_000023.11:24057723:C:T p.(Pro118Leu) NC_000023.11:24057723:C:T p.(Pro118Leu) NC_000023.11:24057723:C:T Identity +NM_001308093.3:c.670A>T NP_001295022.1:p.Met224Leu NC_000008.11:11748968:A:T p.(Met224Leu) NC_000008.11:11748968:A:T p.(Met224Leu) NC_000008.11:11748968:A:T Identity +NM_001376.5:c.9672A>G NP_001367.2:p.Ile3224Met NC_000014.9:102029847:A:G p.(Ile3224Met) NC_000014.9:102029847:A:G p.(Ile3224Met) NC_000014.9:102029847:A:G Identity +NM_001322151.2:c.263A>C NP_001309080.1:p.Asp88Ala NC_000015.10:57091828:A:C p.(Asp88Ala) NC_000015.10:57091828:A:C p.(Asp88Ala) NC_000015.10:57091828:A:C Identity +NM_001349608.2:c.4661A>G NP_001336537.1:p.Tyr1554Cys NC_000001.11:7751259:A:G p.(Tyr1554Cys) NC_000001.11:7751259:A:G p.(Tyr1554Cys) NC_000001.11:7751259:A:G Identity +NM_000965.5:c.422G>T NP_000956.2:p.Cys141Phe NC_000003.12:25501296:G:T p.(Cys141Phe) NC_000003.12:25501296:G:T p.(Cys141Phe) NC_000003.12:25501296:G:T Identity +NM_020988.3:c.929G>A NP_066268.1:p.Ser310Asn NC_000016.10:56354916:G:A p.(Ser310Asn) NC_000016.10:56354916:G:A p.(Ser310Asn) NC_000016.10:56354916:G:A Identity +NM_016222.4:c.11C>T NP_057306.2:p.Ser4Leu NC_000005.10:177516934:G:A p.(Ser4Leu) NC_000005.10:177516934:G:A p.(Ser4Leu) NC_000005.10:177516934:G:A Identity +NM_001005609.2:c.1032C>G NP_001005609.1:p.Cys344Trp NC_000023.11:70035470:C:G p.(Cys344Trp) NC_000023.11:70035470:C:G p.(Cys344Trp) NC_000023.11:70035470:C:G Identity +NM_021072.4:c.2653C>G NP_066550.2:p.Arg885Gly NC_000005.10:45261940:G:C p.(Arg885Gly) NC_000005.10:45261940:G:C p.(Arg885Gly) NC_000005.10:45261940:G:C Identity +NM_001413017.1:c.2761G>C NP_001399946.1:p.Gly921Arg NC_000008.11:144512391:C:G p.(Gly921Arg) NC_000008.11:144512391:C:G p.(Gly921Arg) NC_000008.11:144512391:C:G Identity +NM_001105537.4:c.1993A>G NP_001099007.1:p.Thr665Ala NC_000002.12:218644522:T:C p.(Thr665Ala) NC_000002.12:218644522:T:C p.(Thr665Ala) NC_000002.12:218644522:T:C Identity +NM_001348250.2:c.1149C>G NP_001335179.1:p.Ile383Met NC_000003.12:11028804:C:G p.(Ile383Met) NC_000003.12:11028804:C:G p.(Ile383Met) NC_000003.12:11028804:C:G Identity +NM_206933.4:c.10285A>G NP_996816.3:p.Arg3429Gly NC_000001.11:215786771:T:C p.(Arg3429Gly) NC_000001.11:215786771:T:C p.(Arg3429Gly) NC_000001.11:215786771:T:C Identity +NM_003737.4:c.268A>G NP_003728.1:p.Thr90Ala NC_000011.10:6641345:T:C p.(Thr90Ala) NC_000011.10:6641345:T:C p.(Thr90Ala) NC_000011.10:6641345:T:C Identity +NM_001371271.1:c.3073T>G NP_001358200.1:p.Ser1025Ala NC_000002.12:120988986:T:G p.(Ser1025Ala) NC_000002.12:120988986:T:G p.(Ser1025Ala) NC_000002.12:120988986:T:G Identity +NM_001098398.2:c.3419T>G NP_001091868.1:p.Leu1140Arg NC_000001.11:160291362:A:C p.(Leu1140Arg) NC_000001.11:160291362:A:C p.(Leu1140Arg) NC_000001.11:160291362:A:C Identity +NM_001042681.2:c.788T>C NP_001036146.1:p.Val263Ala NC_000001.11:8541255:A:G p.(Val263Ala) NC_000001.11:8541255:A:G p.(Val263Ala) NC_000001.11:8541255:A:G Identity +NM_004463.3:c.2762G>C NP_004454.2:p.Arg921Pro NC_000023.11:54446232:C:G p.(Arg921Pro) NC_000023.11:54446232:C:G p.(Arg921Pro) NC_000023.11:54446232:C:G Identity +NM_001042537.2:c.1093_1095delinsCTG NP_001036002.1:p.Phe365Leu NC_000023.11:136012999:TTC:CTG p.(Phe365Leu) NC_000023.11:136012999:TTC:CTG p.(Phe365Leu) NC_000023.11:136012999:TTC:CTG Identity +NM_001321120.2:c.785T>A NP_001308049.1:p.Leu262Gln NC_000017.11:61479962:T:A p.(Leu262Gln) NC_000017.11:61479962:T:A p.(Leu262Gln) NC_000017.11:61479962:T:A Identity +NM_004304.5:c.53C>T NP_004295.2:p.Ala18Val NC_000002.12:29920606:G:A p.(Ala18Val) NC_000002.12:29920606:G:A p.(Ala18Val) NC_000002.12:29920606:G:A Identity +NM_030662.4:c.734C>T NP_109587.1:p.Ser245Leu NC_000019.10:4099385:G:A p.(Ser245Leu) NC_000019.10:4099385:G:A p.(Ser245Leu) NC_000019.10:4099385:G:A Identity +NM_052874.5:c.289C>G NP_443106.1:p.Gln97Glu NC_000016.10:30997566:G:C p.(Gln97Glu) NC_000016.10:30997566:G:C p.(Gln97Glu) NC_000016.10:30997566:G:C Identity +NM_004525.3:c.11220T>A NP_004516.2:p.Asp3740Glu NC_000002.12:169172057:A:T p.(Asp3740Glu) NC_000002.12:169172057:A:T p.(Asp3740Glu) NC_000002.12:169172057:A:T Identity +NM_001367479.1:c.13274A>G NP_001354408.1:p.Asn4425Ser NC_000001.11:225389816:A:G p.(Asn4425Ser) NC_000001.11:225389816:A:G p.(Asn4425Ser) NC_000001.11:225389816:A:G Identity +NM_001164766.2:c.4037dup NP_001158238.1:p.Phe1347fs NC_000016.10:72795902:AA:AAA p.(Phe1347LeufsTer10) NC_000016.10:72795902:AA:AAA p.(Phe1347LeufsTer10) ERR:SPDI Analogous +NM_001277742.2:c.860T>C NP_001264671.1:p.Met287Thr NC_000002.12:72133083:A:G p.(Met287Thr) NC_000002.12:72133083:A:G p.(Met287Thr) NC_000002.12:72133083:A:G Identity +NM_003179.3:c.889C>A NP_003170.1:p.Gln297Lys NC_000023.11:49191489:G:T p.(Gln297Lys) NC_000023.11:49191489:G:T p.(Gln297Lys) NC_000023.11:49191489:G:T Identity +NM_003718.5:c.1012_1014del NP_003709.3:p.Arg338del NC_000007.14:39951650:GCCGC:GC p.(Arg338del) NC_000007.14:39951650:GCCGC:GC p.(Arg338del) NC_000007.14:39951652:CGC: Identity +NM_001202.6:c.1010G>A NP_001193.2:p.Cys337Tyr NC_000014.9:53950248:C:T p.(Cys337Tyr) NC_000014.9:53950248:C:T p.(Cys337Tyr) NC_000014.9:53950248:C:T Identity +NM_001317964.2:c.830T>G NP_001304893.1:p.Ile277Arg NC_000005.10:146157499:A:C p.(Ile277Arg) NC_000005.10:146157499:A:C p.(Ile277Arg) NC_000005.10:146157499:A:C Identity +NM_000113.3:c.824A>G NP_000104.1:p.Lys275Arg NC_000009.12:129814146:T:C p.(Lys275Arg) NC_000009.12:129814146:T:C p.(Lys275Arg) NC_000009.12:129814146:T:C Identity +NM_001001323.2:c.894A>C NP_001001323.1:p.Glu298Asp NC_000012.12:89630538:T:G p.(Glu298Asp) NC_000012.12:89630538:T:G p.(Glu298Asp) NC_000012.12:89630538:T:G Identity +NM_000378.6:c.373G>A NP_000369.4:p.Gly125Ser NC_000011.10:32434987:C:T p.(Gly125Ser) NC_000011.10:32434987:C:T p.(Gly125Ser) NC_000011.10:32434987:C:T Identity +NM_001282145.2:c.1462G>A NP_001269074.1:p.Ala488Thr NC_000023.11:5903215:C:T p.(Ala488Thr) NC_000023.11:5903215:C:T p.(Ala488Thr) NC_000023.11:5903215:C:T Identity +NM_001304815.2:c.638_640del NP_001291744.1:p.Asp213del NC_000019.10:42272418:TGATG:TG p.(Asp213del) NC_000019.10:42272418:TGATG:TG p.(Asp213del) NC_000019.10:42272420:ATG: Identity +NM_000457.6:c.1043C>T NP_000448.3:p.Thr348Ile NC_000020.11:44424167:C:T p.(Thr348Ile) NC_000020.11:44424167:C:T p.(Thr348Ile) NC_000020.11:44424167:C:T Identity +NM_001110556.2:c.446C>A NP_001104026.1:p.Ser149Tyr NC_000023.11:154368017:G:T p.(Ser149Tyr) NC_000023.11:154368017:G:T p.(Ser149Tyr) NC_000023.11:154368017:G:T Identity +NM_022575.4:c.322G>A NP_072097.2:p.Val108Ile NC_000020.11:2860319:G:A p.(Val108Ile) NC_000020.11:2860319:G:A p.(Val108Ile) NC_000020.11:2860319:G:A Identity +NM_000875.5:c.3041A>C NP_000866.1:p.Tyr1014Ser NC_000015.10:98934907:A:C p.(Tyr1014Ser) NC_000015.10:98934907:A:C p.(Tyr1014Ser) NC_000015.10:98934907:A:C Identity +NM_001257361.2:c.296G>A NP_001244290.1:p.Arg99Gln NC_000001.11:109626383:G:A p.(Arg99Gln) NC_000001.11:109626383:G:A p.(Arg99Gln) NC_000001.11:109626383:G:A Identity +NM_001099856.6:c.1055T>G NP_001093326.2:p.Leu352Arg NC_000023.11:154562891:T:G p.(Leu352Arg) NC_000023.11:154562891:T:G p.(Leu352Arg) NC_000023.11:154562891:T:G Identity +NM_001190918.2:c.668C>T NP_001177847.1:p.Thr223Ile NC_000017.11:40086797:C:T p.(Thr223Ile) NC_000017.11:40086797:C:T p.(Thr223Ile) NC_000017.11:40086797:C:T Identity +NM_001130089.2:c.448A>G NP_001123561.1:p.Thr150Ala NC_000016.10:75640207:T:C p.(Thr150Ala) NC_000016.10:75640207:T:C p.(Thr150Ala) NC_000016.10:75640207:T:C Identity +NM_001135659.3:c.929A>C NP_001129131.1:p.Lys310Thr NC_000002.12:50921870:T:G p.(Lys310Thr) NC_000002.12:50921870:T:G p.(Lys310Thr) NC_000002.12:50921870:T:G Identity +NM_006445.4:c.6224T>C NP_006436.3:p.Val2075Ala NC_000017.11:1653779:A:G p.(Val2075Ala) NC_000017.11:1653779:A:G p.(Val2075Ala) NC_000017.11:1653779:A:G Identity +NM_001368263.1:c.230C>A NP_001355192.1:p.Ala77Asp NC_000003.12:45394682:C:A p.(Ala77Asp) NC_000003.12:45394682:C:A p.(Ala77Asp) NC_000003.12:45394682:C:A Identity +NM_015057.5:c.1885C>G NP_055872.4:p.Pro629Ala NC_000013.11:77260559:G:C p.(Pro629Ala) NC_000013.11:77260559:G:C p.(Pro629Ala) NC_000013.11:77260559:G:C Identity +NM_014712.3:c.4024G>A NP_055527.1:p.Val1342Met NC_000016.10:30979809:G:A p.(Val1342Met) NC_000016.10:30979809:G:A p.(Val1342Met) NC_000016.10:30979809:G:A Identity +NM_001170629.2:c.5576G>T NP_001164100.1:p.Arg1859Leu NC_000014.9:21394299:C:A p.(Arg1859Leu) NC_000014.9:21394299:C:A p.(Arg1859Leu) NC_000014.9:21394299:C:A Identity +NM_001079668.3:c.53G>T NP_001073136.1:p.Gly18Val NC_000014.9:36520076:C:A p.(Gly18Val) NC_000014.9:36520076:C:A p.(Gly18Val) NC_000014.9:36520076:C:A Identity +NM_015335.5:c.14C>G NP_056150.1:p.Ala5Gly NC_000012.12:116277117:G:C p.(Ala5Gly) NC_000012.12:116277117:G:C p.(Ala5Gly) NC_000012.12:116277117:G:C Identity +NM_001032998.2:c.656T>C NP_001028170.1:p.Leu219Pro NC_000002.12:142960696:T:C p.(Leu219Pro) NC_000002.12:142960696:T:C p.(Leu219Pro) NC_000002.12:142960696:T:C Identity +NM_020247.5:c.469G>A NP_064632.2:p.Gly157Ser NC_000001.11:226965290:G:A p.(Gly157Ser) NC_000001.11:226965290:G:A p.(Gly157Ser) NC_000001.11:226965290:G:A Identity +NM_001271043.2:c.118A>G NP_001257972.1:p.Asn40Asp NC_000019.10:13025086:A:G p.(Asn40Asp) NC_000019.10:13025086:A:G p.(Asn40Asp) NC_000019.10:13025086:A:G Identity +NM_001001890.3:c.1229C>G NP_001001890.1:p.Thr410Ser NC_000021.9:34792267:G:C p.(Thr410Ser) NC_000021.9:34792267:G:C p.(Thr410Ser) NC_000021.9:34792267:G:C Identity +NM_001134232.2:c.256G>T NP_001127704.1:p.Asp86Tyr NC_000007.14:12218495:G:T p.(Asp86Tyr) NC_000007.14:12218495:G:T p.(Asp86Tyr) NC_000007.14:12218495:G:T Identity +NM_001194937.2:c.1460G>A NP_001181866.1:p.Cys487Tyr NC_000001.11:151423984:C:T p.(Cys487Tyr) NC_000001.11:151423984:C:T p.(Cys487Tyr) NC_000001.11:151423984:C:T Identity +NM_001308133.2:c.1619G>A NP_001295062.1:p.Ser540Asn NC_000014.9:45164473:G:A p.(Ser540Asn) NC_000014.9:45164473:G:A p.(Ser540Asn) NC_000014.9:45164473:G:A Identity +NM_001143996.2:c.283T>A NP_001137468.1:p.Leu95Met NC_000010.11:49752661:A:T p.(Leu95Met) NC_000010.11:49752661:A:T p.(Leu95Met) NC_000010.11:49752661:A:T Identity +NM_001145288.2:c.889G>A NP_001138760.1:p.Val297Met NC_000012.12:100402464:G:A p.(Val297Met) NC_000012.12:100402464:G:A p.(Val297Met) NC_000012.12:100402464:G:A Identity +NM_001193307.2:c.3814G>C NP_001180236.1:p.Asp1272His NC_000007.14:93102283:C:G p.(Asp1272His) NC_000007.14:93102283:C:G p.(Asp1272His) NC_000007.14:93102283:C:G Identity +NM_004463.3:c.2714_2717del NP_004454.2:p.Thr905fs NC_000023.11:54446277:TCTGTCT:TCT p.(Thr905ArgfsTer40) NC_000023.11:54446277:TCTGTCT:TCT p.(Thr905ArgfsTer40) NC_000023.11:54446277:TCTG: Analogous +NM_001346279.2:c.2855A>C NP_001333208.1:p.Glu952Ala NC_000011.10:10775247:A:C p.(Glu952Ala) NC_000011.10:10775247:A:C p.(Glu952Ala) NC_000011.10:10775247:A:C Identity +NM_001068.3:c.3731T>C NP_001059.2:p.Met1244Thr NC_000003.12:25612554:A:G p.(Met1244Thr) NC_000003.12:25612554:A:G p.(Met1244Thr) NC_000003.12:25612554:A:G Identity +NM_003036.4:c.1642G>A NP_003027.1:p.Ala548Thr NC_000001.11:2304459:G:A p.(Ala548Thr) NC_000001.11:2304459:G:A p.(Ala548Thr) NC_000001.11:2304459:G:A Identity +NM_001394998.1:c.4204C>A NP_001381927.1:p.Leu1402Met NC_000017.11:63418342:C:A p.(Leu1402Met) NC_000017.11:63418342:C:A p.(Leu1402Met) NC_000017.11:63418342:C:A Identity +NM_001371271.1:c.1493C>T NP_001358200.1:p.Thr498Met NC_000002.12:120978557:C:T p.(Thr498Met) NC_000002.12:120978557:C:T p.(Thr498Met) NC_000002.12:120978557:C:T Identity +NM_020987.5:c.9856C>G NP_066267.2:p.Leu3286Val NC_000010.11:60071024:G:C p.(Leu3286Val) NC_000010.11:60071024:G:C p.(Leu3286Val) NC_000010.11:60071024:G:C Identity +NM_001142805.2:c.1280ACT[1] NP_001136277.1:p.Tyr428del NC_000023.11:153694182:CTACTACT:CTACT p.(Tyr428del) NC_000023.11:153694184:A:ACT ERR:Parse ERR:Parse Identity +NM_000091.5:c.4154G>A NP_000082.2:p.Gly1385Glu NC_000002.12:227304984:G:A p.(Gly1385Glu) NC_000002.12:227304984:G:A p.(Gly1385Glu) NC_000002.12:227304984:G:A Identity +NM_003184.4:c.1910T>A NP_003175.2:p.Leu637Ter NC_000008.11:119783582:A:T p.(Leu637Ter) NC_000008.11:119783582:A:T p.(Leu637Ter) NC_000008.11:119783582:A:T Identity +NM_002235.5:c.1231G>T NP_002226.1:p.Asp411Tyr NC_000012.12:4811271:G:T p.(Asp411Tyr) NC_000012.12:4811271:G:T p.(Asp411Tyr) NC_000012.12:4811271:G:T Identity +NM_001033604.2:c.658C>T NP_001028776.1:p.Gln220Ter NC_000007.14:33264329:C:T p.(Gln220Ter) NC_000007.14:33264329:C:T p.(Gln220Ter) NC_000007.14:33264329:C:T Identity +NM_001012614.2:c.2T>C NP_001012632.1:p.Met1Thr NC_000004.12:1241329:A:G p.(Met1Thr) NC_000004.12:1241329:A:G p.Met1? NC_000004.12:1241329:A:G Identity +NM_001020658.2:c.1607C>G NP_001018494.1:p.Ala536Gly NC_000001.11:30968391:G:C p.(Ala536Gly) NC_000001.11:30968391:G:C p.(Ala536Gly) NC_000001.11:30968391:G:C Identity +NM_001308120.2:c.3716A>G NP_001295049.1:p.His1239Arg NC_000014.9:45032279:A:G p.(His1239Arg) NC_000014.9:45032279:A:G p.(His1239Arg) NC_000014.9:45032279:A:G Identity +NM_001142763.2:c.4476TTC[1] NP_001136235.1:p.Ser1494del NC_000010.11:53823265:GAAGAA:GAA p.(Ser1494del) NC_000010.11:53823270:A:GAA ERR:Parse ERR:Parse Identity +NM_017433.5:c.1575T>A NP_059129.3:p.Asn525Lys NC_000010.11:26096392:T:A p.(Asn525Lys) NC_000010.11:26096392:T:A p.(Asn525Lys) NC_000010.11:26096392:T:A Identity +NM_001410754.1:c.685A>T NP_001397683.1:p.Thr229Ser NC_000005.10:93593704:A:T p.(Thr229Ser) NC_000005.10:93593704:A:T p.(Thr229Ser) NC_000005.10:93593704:A:T Identity +NM_001273.5:c.2555A>G NP_001264.2:p.Tyr852Cys NC_000012.12:6593187:T:C p.(Tyr852Cys) NC_000012.12:6593187:T:C p.(Tyr852Cys) NC_000012.12:6593187:T:C Identity +NM_014727.3:c.769G>A NP_055542.1:p.Val257Ile NC_000019.10:35720115:G:A p.(Val257Ile) NC_000019.10:35720115:G:A p.(Val257Ile) NC_000019.10:35720115:G:A Identity +NM_001136195.2:c.1303G>C NP_001129667.1:p.Glu435Gln NC_000019.10:12706762:C:G p.(Glu435Gln) NC_000019.10:12706762:C:G p.(Glu435Gln) NC_000019.10:12706762:C:G Identity +NM_001282538.2:c.92G>A NP_001269467.1:p.Gly31Glu NC_000001.11:1804456:C:T p.(Gly31Glu) NC_000001.11:1804456:C:T p.(Gly31Glu) NC_000001.11:1804456:C:T Identity +NM_001162501.2:c.1828C>T NP_001155973.1:p.Arg610Ter NC_000022.11:40266057:C:T p.(Arg610Ter) NC_000022.11:40266057:C:T p.(Arg610Ter) NC_000022.11:40266057:C:T Identity +NM_001197104.2:c.7053C>G NP_001184033.1:p.Ile2351Met NC_000011.10:118502944:C:G p.(Ile2351Met) NC_000011.10:118502944:C:G p.(Ile2351Met) NC_000011.10:118502944:C:G Identity +NM_012463.4:c.1236del NP_036595.2:p.Phe412fs NC_000012.12:123744244:TTT:TT p.(Phe412LeufsTer9) NC_000012.12:123744244:TTT:TT p.(Phe412LeufsTer9) NC_000012.12:123744246:T: Analogous +LRG_1372t1:c.602A>T LRG_1372p1:p.Asn201Ile NC_000001.11:155900445:T:A ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_1372t1, alt_ac=LRG_1372t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_1372t1 not found +NM_000875.5:c.3601G>T NP_000866.1:p.Val1201Phe NC_000015.10:98948586:G:T p.(Val1201Phe) NC_000015.10:98948586:G:T p.(Val1201Phe) NC_000015.10:98948586:G:T Identity +NM_001282531.3:c.1786A>C NP_001269460.1:p.Lys596Gln NC_000020.11:50892927:T:G p.(Lys596Gln) NC_000020.11:50892927:T:G p.(Lys596Gln) NC_000020.11:50892927:T:G Identity +NM_024496.4:c.1309G>A NP_078772.1:p.Val437Met NC_000014.9:77026483:C:T p.(Val437Met) NC_000014.9:77026483:C:T p.(Val437Met) NC_000014.9:77026483:C:T Identity +NM_000248.4:c.411G>C NP_000239.1:p.Leu137Phe NC_000003.12:69941300:G:C p.(Leu137Phe) NC_000003.12:69941300:G:C p.(Leu137Phe) NC_000003.12:69941300:G:C Identity +NM_020320.5:c.1331A>C NP_064716.2:p.Asp444Ala NC_000006.12:87518713:T:G p.(Asp444Ala) NC_000006.12:87518713:T:G p.(Asp444Ala) NC_000006.12:87518713:T:G Identity +NM_001304482.2:c.3595A>C NP_001291411.1:p.Ser1199Arg NC_000003.12:47411866:A:C p.(Ser1199Arg) NC_000003.12:47411866:A:C p.(Ser1199Arg) NC_000003.12:47411866:A:C Identity +NM_000083.3:c.2845G>A NP_000074.3:p.Gly949Ser NC_000007.14:143351842:G:A p.(Gly949Ser) NC_000007.14:143351842:G:A p.(Gly949Ser) NC_000007.14:143351842:G:A Identity +NM_139278.4:c.170C>T NP_644807.1:p.Ala57Val NC_000008.11:22156372:G:A p.(Ala57Val) NC_000008.11:22156372:G:A p.(Ala57Val) NC_000008.11:22156372:G:A Identity +NM_001134232.2:c.776A>G NP_001127704.1:p.Tyr259Cys NC_000007.14:12231925:A:G p.(Tyr259Cys) NC_000007.14:12231925:A:G p.(Tyr259Cys) NC_000007.14:12231925:A:G Identity +NM_015384.5:c.1510A>G NP_056199.2:p.Lys504Glu NC_000005.10:36984689:A:G p.(Lys504Glu) NC_000005.10:36984689:A:G p.(Lys504Glu) NC_000005.10:36984689:A:G Identity +NM_001308093.3:c.586G>T NP_001295022.1:p.Ala196Ser NC_000008.11:11708897:G:T p.(Ala196Ser) NC_000008.11:11708897:G:T p.(Ala196Ser) NC_000008.11:11708897:G:T Identity +NM_001349253.2:c.3856A>G NP_001336182.1:p.Ile1286Val NC_000003.12:38867415:T:C p.(Ile1286Val) NC_000003.12:38867415:T:C p.(Ile1286Val) NC_000003.12:38867415:T:C Identity +NM_001289975.1:c.3131T>A NP_001276904.1:p.Ile1044Asn NC_000002.12:159386584:A:T p.(Ile1044Asn) NC_000002.12:159386584:A:T p.(Ile1044Asn) NC_000002.12:159386584:A:T Identity +NM_000209.4:c.718C>T NP_000200.1:p.Pro240Ser NC_000013.11:27924566:C:T p.(Pro240Ser) NC_000013.11:27924566:C:T p.(Pro240Ser) NC_000013.11:27924566:C:T Identity +NM_001330209.2:c.1688T>C NP_001317138.1:p.Met563Thr NC_000023.11:13760267:T:C p.(Met563Thr) NC_000023.11:13760267:T:C p.(Met563Thr) NC_000023.11:13760267:T:C Identity +NM_000089.4:c.746T>C NP_000080.2:p.Ile249Thr NC_000007.14:94408776:T:C p.(Ile249Thr) NC_000007.14:94408776:T:C p.(Ile249Thr) NC_000007.14:94408776:T:C Identity +NM_001363850.1:c.1694A>G NP_001350779.1:p.Lys565Arg NC_000016.10:89550523:A:G p.(Lys565Arg) NC_000016.10:89550523:A:G p.(Lys565Arg) NC_000016.10:89550523:A:G Identity +NM_001282531.3:c.1402G>C NP_001269460.1:p.Glu468Gln NC_000020.11:50893311:C:G p.(Glu468Gln) NC_000020.11:50893311:C:G p.(Glu468Gln) NC_000020.11:50893311:C:G Identity +NM_001265612.2:c.1926A>T NP_001252541.1:p.Gln642His NC_000016.10:58574661:T:A p.(Gln642His) NC_000016.10:58574661:T:A p.(Gln642His) NC_000016.10:58574661:T:A Identity +NM_003185.4:c.983_1013del NP_003176.2:p.Gln328fs NC_000020.11:62064797:GGCGCCGCAGCCGCCGCGCCGGGCCCGGGTTGGC:GGC p.(Gln328ArgfsTer71) NC_000020.11:62064797:GGCGCCGCAGCCGCCGCGCCGGGCCCGGGTTGGC:GGC p.(Gln328ArgfsTer71) NC_000020.11:62064797:GGCGCCGCAGCCGCCGCGCCGGGCCCGGGTT: Analogous +NM_001105206.3:c.193G>A NP_001098676.2:p.Glu65Lys NC_000006.12:112253957:C:T p.(Glu65Lys) NC_000006.12:112253957:C:T p.(Glu65Lys) NC_000006.12:112253957:C:T Identity +NM_000920.4:c.2293G>C NP_000911.2:p.Asp765His NC_000011.10:66850853:C:G p.(Asp765His) NC_000011.10:66850853:C:G p.(Asp765His) NC_000011.10:66850853:C:G Identity +NM_000702.4:c.2012C>T NP_000693.1:p.Thr671Ile NC_000001.11:160135191:C:T p.(Thr671Ile) NC_000001.11:160135191:C:T p.(Thr671Ile) NC_000001.11:160135191:C:T Identity +NM_001256442.2:c.219_220del NP_001243371.1:p.Glu73fs NC_000016.10:29813269:AGAGA:AGA p.(Glu73AspfsTer60) NC_000016.10:29813269:AGAGA:AGA p.(Glu73AspfsTer60) NC_000016.10:29813272:GA: Analogous +NM_001394062.1:c.21990G>C NP_001380991.1:p.Glu7330Asp NC_000001.11:39479828:G:C p.(Glu7330Asp) NC_000001.11:39479828:G:C p.(Glu7330Asp) NC_000001.11:39479828:G:C Identity +NM_001143760.1:c.423C>A NP_001137232.1:p.Asp141Glu NC_000017.11:7311411:C:A p.(Asp141Glu) NC_000017.11:7311411:C:A p.(Asp141Glu) NC_000017.11:7311411:C:A Identity +NM_003660.4:c.1966C>T NP_003651.1:p.Pro656Ser NC_000019.10:49138316:C:T p.(Pro656Ser) NC_000019.10:49138316:C:T p.(Pro656Ser) NC_000019.10:49138316:C:T Identity +NM_001297595.2:c.1951G>A NP_001284524.1:p.Asp651Asn NC_000019.10:16869603:G:A p.(Asp651Asn) NC_000019.10:16869603:G:A p.(Asp651Asn) NC_000019.10:16869603:G:A Identity +NM_007254.4:c.1343T>A NP_009185.2:p.Phe448Tyr NC_000019.10:49861650:A:T p.(Phe448Tyr) NC_000019.10:49861650:A:T p.(Phe448Tyr) NC_000019.10:49861650:A:T Identity +NM_001256053.2:c.4370T>G NP_001242982.1:p.Val1457Gly NC_000010.11:27017634:A:C p.(Val1457Gly) NC_000010.11:27017634:A:C p.(Val1457Gly) NC_000010.11:27017634:A:C Identity +NM_001377273.1:c.3020T>C NP_001364202.1:p.Val1007Ala NC_000012.12:21845678:A:G p.(Val1007Ala) NC_000012.12:21845678:A:G p.(Val1007Ala) NC_000012.12:21845678:A:G Identity +NM_001303110.2:c.443G>C NP_001290039.1:p.Gly148Ala NC_000013.11:110211671:C:G p.(Gly148Ala) NC_000013.11:110211671:C:G p.(Gly148Ala) NC_000013.11:110211671:C:G Identity +NM_007118.4:c.3839A>G NP_009049.2:p.His1280Arg NC_000005.10:14387804:A:G p.(His1280Arg) NC_000005.10:14387804:A:G p.(His1280Arg) NC_000005.10:14387804:A:G Identity +NM_000937.5:c.5224_5227del NP_000928.1:p.Ser1742fs NC_000017.11:7513485:ACTCAC:AC p.(Ser1742ProfsTer238) NC_000017.11:7513485:ACTCAC:AC p.(Ser1742ProfsTer238) NC_000017.11:7513487:TCAC: Analogous +NM_002238.4:c.567G>T NP_002229.1:p.Gln189His NC_000001.11:211019247:C:A p.(Gln189His) NC_000001.11:211019247:C:A p.(Gln189His) NC_000001.11:211019247:C:A Identity +NM_006767.4:c.232G>A NP_006758.2:p.Asp78Asn NC_000022.11:20983057:G:A p.(Asp78Asn) NC_000022.11:20983057:G:A p.(Asp78Asn) NC_000022.11:20983057:G:A Identity +NM_001365276.2:c.5107T>C NP_001352205.1:p.Ser1703Pro NC_000006.12:32070297:A:G p.(Ser1703Pro) NC_000006.12:32070297:A:G p.(Ser1703Pro) NC_000006.12:32070297:A:G Identity +NM_007118.4:c.9119C>A NP_009049.2:p.Ser3040Ter NC_000005.10:14508246:C:A p.(Ser3040Ter) NC_000005.10:14508246:C:A p.(Ser3040Ter) NC_000005.10:14508246:C:A Identity +NM_001169122.2:c.1843C>T NP_001162593.1:p.Pro615Ser NC_000023.11:148955986:C:T p.(Pro615Ser) NC_000023.11:148955986:C:T p.(Pro615Ser) NC_000023.11:148955986:C:T Identity +NM_003482.4:c.16574G>T NP_003473.3:p.Cys5525Phe NC_000012.12:49021819:C:A p.(Cys5525Phe) NC_000012.12:49021819:C:A p.(Cys5525Phe) NC_000012.12:49021819:C:A Identity +NM_001105206.3:c.3253_3256dup NP_001098676.2:p.Gly1086fs NC_000006.12:112139145:CGTT:CGTTCGTT p.(Gly1086GlufsTer28) NC_000006.12:112139145:CGTT:CGTTCGTT p.(Gly1086GlufsTer28) ERR:SPDI Analogous +NM_005859.5:c.31G>A NP_005850.1:p.Gly11Ser NC_000005.10:140114211:G:A p.(Gly11Ser) NC_000005.10:140114211:G:A p.(Gly11Ser) NC_000005.10:140114211:G:A Identity +NM_001160708.2:c.1114A>C NP_001154180.1:p.Lys372Gln NC_000012.12:106430296:A:C p.(Lys372Gln) NC_000012.12:106430296:A:C p.(Lys372Gln) NC_000012.12:106430296:A:C Identity +NM_019066.5:c.1702G>A NP_061939.3:p.Ala568Thr NC_000015.10:23646040:C:T p.(Ala568Thr) NC_000015.10:23646040:C:T p.(Ala568Thr) NC_000015.10:23646040:C:T Identity +NM_021072.4:c.1618G>C NP_066550.2:p.Glu540Gln NC_000005.10:45303598:C:G p.(Glu540Gln) NC_000005.10:45303598:C:G p.(Glu540Gln) NC_000005.10:45303598:C:G Identity +NM_006015.4:c.3210_3212delCAA NP_006006.3:p.Asn1070del NC_000001.11:26771127:AACAA:AA ERR:Data provider error: ValueError: Transcript NM_006015.4 not found ERR:Data provider error: ValueError: Transcript NM_006015.4 not found ERR:AlignmentMapper(tx_ac=NM_006015.4, alt_ac=NM_006015.4, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_006015.4, alt_ac=NM_006015.4, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_006015.4 not found +NM_001386500.1:c.544TTC[2] NP_001373429.1:p.Phe184del NC_000001.11:11256144:GAAGAAGAAG:GAAGAAG p.(Phe184del) NC_000001.11:11256152:A:GAAGAA ERR:Parse ERR:Parse Identity +NM_018990.4:c.566A>C NP_061863.1:p.Tyr189Ser NC_000023.11:129792450:A:C p.(Tyr189Ser) NC_000023.11:129792450:A:C p.(Tyr189Ser) NC_000023.11:129792450:A:C Identity +NM_001042594.2:c.833C>T NP_001036059.1:p.Pro278Leu NC_000007.14:124841115:G:A p.(Pro278Leu) NC_000007.14:124841115:G:A p.(Pro278Leu) NC_000007.14:124841115:G:A Identity +NM_001040142.2:c.2549G>A NP_001035232.1:p.Arg850Gln NC_000002.12:165342455:G:A p.(Arg850Gln) NC_000002.12:165342455:G:A p.(Arg850Gln) NC_000002.12:165342455:G:A Identity +NM_002943.4:c.326A>C NP_002934.1:p.His109Pro NC_000015.10:60531796:T:G p.(His109Pro) NC_000015.10:60531796:T:G p.(His109Pro) NC_000015.10:60531796:T:G Identity +NM_001008537.3:c.2572A>T NP_001008537.1:p.Thr858Ser NC_000023.11:74741984:T:A p.(Thr858Ser) NC_000023.11:74741984:T:A p.(Thr858Ser) NC_000023.11:74741984:T:A Identity +NM_001378120.1:c.3809G>C NP_001365049.1:p.Gly1270Ala NC_000002.12:148489440:G:C p.(Gly1270Ala) NC_000002.12:148489440:G:C p.(Gly1270Ala) NC_000002.12:148489440:G:C Identity +NM_001693.4:c.1353C>G NP_001684.2:p.Tyr451Ter NC_000008.11:20218238:C:G p.(Tyr451Ter) NC_000008.11:20218238:C:G p.(Tyr451Ter) NC_000008.11:20218238:C:G Identity +NM_000053.4:c.3916G>T NP_000044.2:p.Asp1306Tyr NC_000013.11:51937380:C:A p.(Asp1306Tyr) NC_000013.11:51937380:C:A p.(Asp1306Tyr) NC_000013.11:51937380:C:A Identity +NM_001122821.2:c.433C>T NP_001116293.1:p.Pro145Ser NC_000009.12:128692882:C:T p.(Pro145Ser) NC_000009.12:128692882:C:T p.(Pro145Ser) NC_000009.12:128692882:C:T Identity +NM_001846.4:c.10G>A NP_001837.2:p.Asp4Asn NC_000013.11:110307912:G:A p.(Asp4Asn) NC_000013.11:110307912:G:A p.(Asp4Asn) NC_000013.11:110307912:G:A Identity +NM_001174063.2:c.1710C>G NP_001167534.1:p.Tyr570Ter NC_000008.11:38416007:G:C p.(Tyr570Ter) NC_000008.11:38416007:G:C p.(Tyr570Ter) NC_000008.11:38416007:G:C Identity +NM_001321309.2:c.1307T>G NP_001308238.1:p.Leu436Arg NC_000003.12:123709862:A:C p.(Leu436Arg) NC_000003.12:123709862:A:C p.(Leu436Arg) NC_000003.12:123709862:A:C Identity +NM_001195139.2:c.2080C>G NP_001182068.2:p.Leu694Val NC_000016.10:70481438:G:C p.(Leu694Val) NC_000016.10:70481438:G:C p.(Leu694Val) NC_000016.10:70481438:G:C Identity +NM_016148.5:c.6008T>G NP_057232.2:p.Leu2003Arg NC_000019.10:50662442:A:C p.(Leu2003Arg) NC_000019.10:50662442:A:C p.(Leu2003Arg) NC_000019.10:50662442:A:C Identity +NM_001042749.2:c.2294T>C NP_001036214.1:p.Met765Thr NC_000023.11:124068591:T:C p.(Met765Thr) NC_000023.11:124068591:T:C p.(Met765Thr) NC_000023.11:124068591:T:C Identity +NM_022168.4:c.1876C>T NP_071451.2:p.Leu626Phe NC_000002.12:162277582:G:A p.(Leu626Phe) NC_000002.12:162277582:G:A p.(Leu626Phe) NC_000002.12:162277582:G:A Identity +NM_001281737.2:c.712A>G NP_001268666.1:p.Asn238Asp NC_000004.12:158697579:A:G p.(Asn238Asp) NC_000004.12:158697579:A:G p.(Asn238Asp) NC_000004.12:158697579:A:G Identity +NM_001347721.2:c.848del NP_001334650.1:p.Asn283fs NC_000021.9:37490381:AAAA:AAA p.(Asn283IlefsTer14) NC_000021.9:37490381:AAAA:AAA p.(Asn283IlefsTer14) NC_000021.9:37490384:A: Analogous +NM_001287249.2:c.1012G>A NP_001274178.1:p.Val338Ile NC_000002.12:241767816:G:A p.(Val338Ile) NC_000002.12:241767816:G:A p.(Val338Ile) NC_000002.12:241767816:G:A Identity +NM_001278716.2:c.1510T>C NP_001265645.1:p.Cys504Arg NC_000006.12:98875606:A:G p.(Cys504Arg) NC_000006.12:98875606:A:G p.(Cys504Arg) NC_000006.12:98875606:A:G Identity +NM_001306090.2:c.278C>G NP_001293019.1:p.Ser93Trp NC_000004.12:5719350:C:G p.(Ser93Trp) NC_000004.12:5719350:C:G p.(Ser93Trp) NC_000004.12:5719350:C:G Identity +NM_001282237.2:c.1187C>T NP_001269166.1:p.Pro396Leu NC_000014.9:99175645:G:A p.(Pro396Leu) NC_000014.9:99175645:G:A p.(Pro396Leu) NC_000014.9:99175645:G:A Identity +NM_016239.4:c.10409C>A NP_057323.3:p.Thr3470Lys NC_000017.11:18173838:C:A p.(Thr3470Lys) NC_000017.11:18173838:C:A p.(Thr3470Lys) NC_000017.11:18173838:C:A Identity +NM_001172509.2:c.356A>G NP_001165980.1:p.Lys119Arg NC_000002.12:199381810:T:C p.(Lys119Arg) NC_000002.12:199381810:T:C p.(Lys119Arg) NC_000002.12:199381810:T:C Identity +NM_000533.5:c.479C>T NP_000524.3:p.Thr160Ile NC_000023.11:103787822:C:T p.(Thr160Ile) NC_000023.11:103787822:C:T p.(Thr160Ile) NC_000023.11:103787822:C:T Identity +NM_016333.4:c.7430C>G NP_057417.3:p.Ser2477Cys NC_000016.10:2767957:C:G p.(Ser2477Cys) NC_000016.10:2767957:C:G p.(Ser2477Cys) NC_000016.10:2767957:C:G Identity +NM_000784.4:c.1228G>A NP_000775.1:p.Glu410Lys NC_000002.12:218814422:G:A p.(Glu410Lys) NC_000002.12:218814422:G:A p.(Glu410Lys) NC_000002.12:218814422:G:A Identity +NM_052876.4:c.1402C>T NP_443108.1:p.Arg468Cys NC_000019.10:13138223:C:T p.(Arg468Cys) NC_000019.10:13138223:C:T p.(Arg468Cys) NC_000019.10:13138223:C:T Identity +NM_002700.3:c.904G>T NP_002691.1:p.Glu302Ter NC_000005.10:146340330:G:T p.(Glu302Ter) NC_000005.10:146340330:G:T p.(Glu302Ter) NC_000005.10:146340330:G:T Identity +NM_000875.5:c.3598G>T NP_000866.1:p.Val1200Phe NC_000015.10:98948583:G:T p.(Val1200Phe) NC_000015.10:98948583:G:T p.(Val1200Phe) NC_000015.10:98948583:G:T Identity +NM_016628.5:c.1766A>G NP_057712.2:p.Glu589Gly NC_000010.11:28617675:A:G p.(Glu589Gly) NC_000010.11:28617675:A:G p.(Glu589Gly) NC_000010.11:28617675:A:G Identity +NM_016938.5:c.17C>T NP_058634.4:p.Ser6Phe NC_000011.10:65872337:G:A p.(Ser6Phe) NC_000011.10:65872337:G:A p.(Ser6Phe) NC_000011.10:65872337:G:A Identity +NM_001190709.2:c.4447G>C NP_001177638.1:p.Gly1483Arg NC_000001.11:102888620:C:G p.(Gly1483Arg) NC_000001.11:102888620:C:G p.(Gly1483Arg) NC_000001.11:102888620:C:G Identity +NM_001256850.1:c.8768T>C NP_001243779.1:p.Met2923Thr NC_000002.12:178769812:A:G p.(Met2923Thr) NC_000002.12:178769812:A:G p.(Met2923Thr) NC_000002.12:178769812:A:G Identity +NM_021224.6:c.5446G>A NP_067047.4:p.Glu1816Lys NC_000009.12:106929357:G:A p.(Glu1816Lys) NC_000009.12:106929357:G:A p.(Glu1816Lys) NC_000009.12:106929357:G:A Identity +NM_001330437.2:c.841A>G NP_001317366.1:p.Asn281Asp NC_000012.12:112473027:A:G p.(Asn281Asp) NC_000012.12:112473027:A:G p.(Asn281Asp) NC_000012.12:112473027:A:G Identity +NM_001394062.1:c.21587G>T NP_001380991.1:p.Gly7196Val NC_000001.11:39461945:G:T p.(Gly7196Val) NC_000001.11:39461945:G:T p.(Gly7196Val) NC_000001.11:39461945:G:T Identity +NM_001324255.2:c.2806T>A NP_001311184.1:p.Tyr936Asn NC_000005.10:72196538:T:A p.(Tyr936Asn) NC_000005.10:72196538:T:A p.(Tyr936Asn) NC_000005.10:72196538:T:A Identity +NM_001370598.1:c.3110G>A NP_001357527.1:p.Gly1037Glu NC_000012.12:111338384:G:A p.(Gly1037Glu) NC_000012.12:111338384:G:A p.(Gly1037Glu) NC_000012.12:111338384:G:A Identity +NM_001243372.2:c.1885G>A NP_001230301.1:p.Asp629Asn NC_000004.12:169707082:G:A p.(Asp629Asn) NC_000004.12:169707082:G:A p.(Asp629Asn) NC_000004.12:169707082:G:A Identity +NM_000109.4:c.3770G>A NP_000100.3:p.Trp1257Ter NC_000023.11:32441306:C:T p.(Trp1257Ter) NC_000023.11:32441306:C:T p.(Trp1257Ter) NC_000023.11:32441306:C:T Identity +NM_001410908.1:c.1624_1625del NP_001397837.1:p.Glu542fs NC_000007.14:105091215:GA: p.(Glu542ThrfsTer5) NC_000007.14:105091215:GA: p.(Glu542ThrfsTer5) NC_000007.14:105091215:GA: Analogous +NM_000302.4:c.1346C>T NP_000293.2:p.Pro449Leu NC_000001.11:11964660:C:T p.(Pro449Leu) NC_000001.11:11964660:C:T p.(Pro449Leu) NC_000001.11:11964660:C:T Identity +NM_001005271.3:c.6105G>T NP_001005271.2:p.Met2035Ile NC_000017.11:7911509:G:T p.(Met2035Ile) NC_000017.11:7911509:G:T p.(Met2035Ile) NC_000017.11:7911509:G:T Identity +NM_001377289.1:c.1625C>G NP_001364218.1:p.Ala542Gly NC_000006.12:70232761:G:C p.(Ala542Gly) NC_000006.12:70232761:G:C p.(Ala542Gly) NC_000006.12:70232761:G:C Identity +NM_000466.3:c.2578del NP_000457.1:p.Ala860fs NC_000007.14:92501511:C: p.(Ala860ProfsTer31) NC_000007.14:92501511:C: p.(Ala860ProfsTer31) NC_000007.14:92501511:C: Analogous +NM_001410800.1:c.1283A>G NP_001397729.1:p.Asn428Ser NC_000003.12:111624365:A:G p.(Asn428Ser) NC_000003.12:111624365:A:G p.(Asn428Ser) NC_000003.12:111624365:A:G Identity +NM_000059.4:c.6177del NP_000050.3:p.Ser2059fs NC_000013.11:32340531:T: p.(Ser2059ArgfsTer11) NC_000013.11:32340531:T: p.(Ser2059ArgfsTer11) NC_000013.11:32340531:T: Analogous +NM_001193416.3:c.835G>C NP_001180345.1:p.Ala279Pro NC_000023.11:41344098:G:C p.(Ala279Pro) NC_000023.11:41344098:G:C p.(Ala279Pro) NC_000023.11:41344098:G:C Identity +NM_021072.4:c.1366C>A NP_066550.2:p.Pro456Thr NC_000005.10:45353110:G:T p.(Pro456Thr) NC_000005.10:45353110:G:T p.(Pro456Thr) NC_000005.10:45353110:G:T Identity +NM_001354927.2:c.416G>A NP_001341856.1:p.Cys139Tyr NC_000009.12:35065275:C:T p.(Cys139Tyr) NC_000009.12:35065275:C:T p.(Cys139Tyr) NC_000009.12:35065275:C:T Identity +NM_001110556.2:c.2911C>T NP_001104026.1:p.Leu971Phe NC_000023.11:154361702:G:A p.(Leu971Phe) NC_000023.11:154361702:G:A p.(Leu971Phe) NC_000023.11:154361702:G:A Identity +NM_001330384.2:c.1015C>G NP_001317313.1:p.Gln339Glu NC_000019.10:15264600:G:C p.(Gln339Glu) NC_000019.10:15264600:G:C p.(Gln339Glu) NC_000019.10:15264600:G:C Identity +NM_000092.5:c.3497G>A NP_000083.3:p.Gly1166Glu NC_000002.12:227042155:C:T p.(Gly1166Glu) NC_000002.12:227042155:C:T p.(Gly1166Glu) NC_000002.12:227042155:C:T Identity +NM_000090.4:c.2032G>C NP_000081.2:p.Gly678Arg NC_000002.12:188999293:G:C p.(Gly678Arg) NC_000002.12:188999293:G:C p.(Gly678Arg) NC_000002.12:188999293:G:C Identity +NM_005560.6:c.3787C>T NP_005551.3:p.Pro1263Ser NC_000020.11:62330807:G:A p.(Pro1263Ser) NC_000020.11:62330807:G:A p.(Pro1263Ser) NC_000020.11:62330807:G:A Identity +NM_000068.4:c.227G>A NP_000059.3:p.Arg76Gln NC_000019.10:13505997:C:T p.(Arg76Gln) NC_000019.10:13505997:C:T p.(Arg76Gln) NC_000019.10:13505997:C:T Identity +NM_006218.4:c.2860T>A NP_006209.2:p.Phe954Ile NC_000003.12:179230299:T:A p.(Phe954Ile) NC_000003.12:179230299:T:A p.(Phe954Ile) NC_000003.12:179230299:T:A Identity +NM_001410908.1:c.4744G>A NP_001397837.1:p.Ala1582Thr NC_000007.14:105112625:G:A p.(Ala1582Thr) NC_000007.14:105112625:G:A p.(Ala1582Thr) NC_000007.14:105112625:G:A Identity +NM_001130438.3:c.2267A>G NP_001123910.1:p.Lys756Arg NC_000009.12:128584354:A:G p.(Lys756Arg) NC_000009.12:128584354:A:G p.(Lys756Arg) NC_000009.12:128584354:A:G Identity +NM_001314042.2:c.1346T>G NP_001300971.1:p.Leu449Arg NC_000001.11:202756475:A:C p.(Leu449Arg) NC_000001.11:202756475:A:C p.(Leu449Arg) NC_000001.11:202756475:A:C Identity +NM_001012720.2:c.600G>T NP_001012738.1:p.Glu200Asp NC_000010.11:84254412:G:T p.(Glu200Asp) NC_000010.11:84254412:G:T p.(Glu200Asp) NC_000010.11:84254412:G:T Identity +NM_001061.7:c.1310C>T NP_001052.3:p.Ala437Val NC_000007.14:140015805:C:T p.(Ala437Val) NC_000007.14:140015805:C:T p.(Ala437Val) NC_000007.14:140015805:C:T Identity +NM_001166133.2:c.740G>A NP_001159605.1:p.Gly247Asp NC_000004.12:78266885:G:A p.(Gly247Asp) NC_000004.12:78266885:G:A p.(Gly247Asp) NC_000004.12:78266885:G:A Identity +NM_006118.4:c.124G>T NP_006109.2:p.Gly42Cys NC_000001.11:154273405:G:T p.(Gly42Cys) NC_000001.11:154273405:G:T p.(Gly42Cys) NC_000001.11:154273405:G:T Identity +NM_006231.4:c.4676del NP_006222.2:p.Thr1559fs NC_000012.12:132642871:G: p.(Thr1559MetfsTer3) NC_000012.12:132642871:G: p.(Thr1559MetfsTer3) NC_000012.12:132642871:G: Analogous +NM_017780.4:c.4418T>C NP_060250.2:p.Met1473Thr NC_000008.11:60838139:T:C p.(Met1473Thr) NC_000008.11:60838139:T:C p.(Met1473Thr) NC_000008.11:60838139:T:C Identity +NM_001081676.2:c.38G>A NP_001075145.1:p.Ser13Asn NC_000002.12:165176356:C:T p.(Ser13Asn) NC_000002.12:165176356:C:T p.(Ser13Asn) NC_000002.12:165176356:C:T Identity +NM_001204824.2:c.2222C>T NP_001191753.1:p.Ser741Phe NC_000008.11:132129298:G:A p.(Ser741Phe) NC_000008.11:132129298:G:A p.(Ser741Phe) NC_000008.11:132129298:G:A Identity +NM_000264.5:c.279C>A NP_000255.2:p.Tyr93Ter NC_000009.12:95506521:G:T p.(Tyr93Ter) NC_000009.12:95506521:G:T p.(Tyr93Ter) NC_000009.12:95506521:G:T Identity +NM_001320210.2:c.539del NP_001307139.1:p.Ala180fs NC_000003.12:132672071:C: p.(Ala180ValfsTer9) NC_000003.12:132672071:C: p.(Ala180ValfsTer9) NC_000003.12:132672071:C: Analogous +NM_031407.7:c.8855G>A NP_113584.3:p.Ser2952Asn NC_000023.11:53552336:C:T p.(Ser2952Asn) NC_000023.11:53552336:C:T p.(Ser2952Asn) NC_000023.11:53552336:C:T Identity +NM_007118.4:c.1985G>A NP_009049.2:p.Arg662His NC_000005.10:14336665:G:A p.(Arg662His) NC_000005.10:14336665:G:A p.(Arg662His) NC_000005.10:14336665:G:A Identity +NM_001077188.2:c.25C>T NP_001070656.1:p.Arg9Trp NC_000023.11:132958577:G:A p.(Arg9Trp) NC_000023.11:132958577:G:A p.(Arg9Trp) NC_000023.11:132958577:G:A Identity +NM_030632.3:c.4087del NP_085135.1:p.Met1363fs NC_000018.10:33743933:AA:A p.(Met1363TrpfsTer12) NC_000018.10:33743933:AA:A p.(Met1363TrpfsTer12) NC_000018.10:33743934:A: Analogous +NM_001008537.3:c.784G>T NP_001008537.1:p.Glu262Ter NC_000023.11:74743772:C:A p.(Glu262Ter) NC_000023.11:74743772:C:A p.(Glu262Ter) NC_000023.11:74743772:C:A Identity +NM_001166278.2:c.563G>A NP_001159750.1:p.Arg188Gln NC_000023.11:70499220:G:A p.(Arg188Gln) NC_000023.11:70499220:G:A p.(Arg188Gln) NC_000023.11:70499220:G:A Identity +NM_001164342.2:c.1549G>T NP_001157814.1:p.Ala517Ser NC_000003.12:114350528:C:A p.(Ala517Ser) NC_000003.12:114350528:C:A p.(Ala517Ser) NC_000003.12:114350528:C:A Identity +NM_001165979.2:c.2077G>A NP_001159451.1:p.Gly693Arg NC_000010.11:94246525:G:A p.(Gly693Arg) NC_000010.11:94246525:G:A p.(Gly693Arg) NC_000010.11:94246525:G:A Identity +NM_001351444.2:c.3494_3497del NP_001338373.1:p.Thr1165fs NC_000006.12:87257541:ACTAA:A p.(Thr1165IlefsTer5) NC_000006.12:87257541:ACTAA:A p.(Thr1165IlefsTer5) NC_000006.12:87257542:CTAA: Analogous +NM_001363711.2:c.364C>A NP_001350640.1:p.Pro122Thr NC_000015.10:45111916:G:T p.(Pro122Thr) NC_000015.10:45111916:G:T p.(Pro122Thr) NC_000015.10:45111916:G:T Identity +NM_001098504.2:c.416del NP_001091974.1:p.Pro139fs NC_000022.11:38501151:GG:G p.(Pro139ArgfsTer3) NC_000022.11:38501151:GG:G p.(Pro139ArgfsTer3) NC_000022.11:38501151:G: Analogous +NM_001008800.3:c.223del NP_001008800.1:p.Leu75fs NC_000001.11:156325056:GG:G p.(Leu75TrpfsTer10) NC_000001.11:156325056:GG:G p.(Leu75TrpfsTer10) NC_000001.11:156325056:G: Analogous +NM_001256850.1:c.62568G>A NP_001243779.1:p.Trp20856Ter NC_000002.12:178579705:C:T p.(Trp20856Ter) NC_000002.12:178579705:C:T p.(Trp20856Ter) NC_000002.12:178579705:C:T Identity +NM_000038.6:c.141del NP_000029.2:p.Lys49fs NC_000005.10:112766330:A: p.(Lys49AsnfsTer21) NC_000005.10:112766330:A: p.(Lys49AsnfsTer21) NC_000005.10:112766330:A: Analogous +NM_019066.5:c.739G>A NP_061939.3:p.Val247Ile NC_000015.10:23647003:C:T p.(Val247Ile) NC_000015.10:23647003:C:T p.(Val247Ile) NC_000015.10:23647003:C:T Identity +NM_005121.3:c.2800C>T NP_005112.2:p.Pro934Ser NC_000017.11:61984258:G:A p.(Pro934Ser) NC_000017.11:61984258:G:A p.(Pro934Ser) NC_000017.11:61984258:G:A Identity +NM_001199835.1:c.295G>T NP_001186764.1:p.Glu99Ter NC_000007.14:26365128:G:T p.(Glu99Ter) NC_000007.14:26365128:G:T p.(Glu99Ter) NC_000007.14:26365128:G:T Identity +NM_004004.6:c.274G>T NP_003995.2:p.Ala92Ser NC_000013.11:20189307:C:A p.(Ala92Ser) NC_000013.11:20189307:C:A p.(Ala92Ser) NC_000013.11:20189307:C:A Identity +NM_000096.4:c.2407_2409delinsCAT NP_000087.2:p.Glu803His NC_000003.12:149183481:TTC:ATG p.(Glu803His) NC_000003.12:149183481:TTC:ATG p.(Glu803His) NC_000003.12:149183481:TTC:ATG Identity +NM_001410834.1:c.1229T>C NP_001397763.1:p.Leu410Ser NC_000003.12:139369345:A:G p.(Leu410Ser) NC_000003.12:139369345:A:G p.(Leu410Ser) NC_000003.12:139369345:A:G Identity +NM_001300899.2:c.406C>T NP_001287828.1:p.Arg136Ter NC_000006.12:75832855:C:T p.(Arg136Ter) NC_000006.12:75832855:C:T p.(Arg136Ter) NC_000006.12:75832855:C:T Identity +NM_000501.4:c.2T>A NP_000492.2:p.Met1Lys NC_000007.14:74028188:T:A p.(Met1Lys) NC_000007.14:74028188:T:A p.Met1? NC_000007.14:74028188:T:A Identity +NM_001375759.1:c.1683del NP_001362688.1:p.Leu562fs NC_000007.14:100684283:GG:G p.(Leu562CysfsTer33) NC_000007.14:100684283:GG:G p.(Leu562CysfsTer33) NC_000007.14:100684283:G: Analogous +NM_001130690.3:c.1315C>T NP_001124162.1:p.Arg439Trp NC_000006.12:165396422:G:A p.(Arg439Trp) NC_000006.12:165396422:G:A p.(Arg439Trp) NC_000006.12:165396422:G:A Identity +NM_000335.5:c.3316G>T NP_000326.2:p.Glu1106Ter NC_000003.12:38579404:C:A p.(Glu1106Ter) NC_000003.12:38579404:C:A p.(Glu1106Ter) NC_000003.12:38579404:C:A Identity +NM_000092.5:c.818G>A NP_000083.3:p.Gly273Asp NC_000002.12:227103195:C:T p.(Gly273Asp) NC_000002.12:227103195:C:T p.(Gly273Asp) NC_000002.12:227103195:C:T Identity +NM_002732.4:c.762dup NP_002723.2:p.Arg255fs NC_000009.12:69013330:CCC:CCCC p.(Arg255GlufsTer11) NC_000009.12:69013330:CCC:CCCC p.(Arg255GlufsTer11) ERR:SPDI Analogous +NM_001282902.3:c.755_758dup NP_001269831.1:p.Leu254fs NC_000008.11:115619312:CCTA:CCTACCTA p.(Leu254ArgfsTer4) NC_000008.11:115619312:CCTA:CCTACCTA p.(Leu254ArgfsTer4) ERR:SPDI Analogous +NM_001330358.2:c.1660T>A NP_001317287.1:p.Leu554Ile NC_000001.11:11792372:A:T p.(Leu554Ile) NC_000001.11:11792372:A:T p.(Leu554Ile) NC_000001.11:11792372:A:T Identity +NM_000037.4:c.5207G>T NP_000028.3:p.Ser1736Ile NC_000008.11:41668453:C:A p.(Ser1736Ile) NC_000008.11:41668453:C:A p.(Ser1736Ile) NC_000008.11:41668453:C:A Identity +NM_017617.5:c.79C>T NP_060087.3:p.Pro27Ser NC_000009.12:136544084:G:A p.(Pro27Ser) NC_000009.12:136544084:G:A p.(Pro27Ser) NC_000009.12:136544084:G:A Identity +NM_000296.4:c.12725_12753del NP_000287.4:p.Leu4242fs NC_000016.10:2089882:GCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCT:GCTGCT p.(Leu4242ProfsTer133) NC_000016.10:2089882:GCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCT:GCTGCT p.(Leu4242ProfsTer133) NC_000016.10:2089882:GCTGCTCCTGCGGCCTTGCAGGCTGTGCA: Analogous +NM_005654.6:c.311A>T NP_005645.1:p.Glu104Val NC_000005.10:93585333:A:T p.(Glu104Val) NC_000005.10:93585333:A:T p.(Glu104Val) NC_000005.10:93585333:A:T Identity +NM_000341.4:c.1190A>G NP_000332.2:p.Tyr397Cys NC_000002.12:44304195:A:G p.(Tyr397Cys) NC_000002.12:44304195:A:G p.(Tyr397Cys) NC_000002.12:44304195:A:G Identity +NM_004608.4:c.581G>A NP_004599.2:p.Arg194His NC_000016.10:30088982:C:T p.(Arg194His) NC_000016.10:30088982:C:T p.(Arg194His) NC_000016.10:30088982:C:T Identity +NM_001382394.1:c.3772_3774del NP_001369323.1:p.Ser1258del NC_000002.12:38986030:AGAAG:AG p.(Ser1258del) NC_000002.12:38986030:AGAAG:AG p.(Ser1258del) NC_000002.12:38986030:AGA: Identity +NM_001142519.3:c.1396A>T NP_001135991.1:p.Ser466Cys NC_000011.10:59153063:A:T p.(Ser466Cys) NC_000011.10:59153063:A:T p.(Ser466Cys) NC_000011.10:59153063:A:T Identity +NM_001379245.1:c.4082A>G NP_001366174.1:p.His1361Arg NC_000013.11:35164357:A:G p.(His1361Arg) NC_000013.11:35164357:A:G p.(His1361Arg) NC_000013.11:35164357:A:G Identity +NM_000488.4:c.158G>T NP_000479.1:p.Cys53Phe NC_000001.11:173914802:C:A p.(Cys53Phe) NC_000001.11:173914802:C:A p.(Cys53Phe) NC_000001.11:173914802:C:A Identity +NM_003104.6:c.698C>T NP_003095.2:p.Ala233Val NC_000015.10:45068963:C:T p.(Ala233Val) NC_000015.10:45068963:C:T p.(Ala233Val) NC_000015.10:45068963:C:T Identity +NM_001005407.2:c.697G>A NP_001005407.1:p.Val233Ile NC_000016.10:1198667:G:A p.(Val233Ile) NC_000016.10:1198667:G:A p.(Val233Ile) NC_000016.10:1198667:G:A Identity +NM_000193.4:c.1093G>A NP_000184.1:p.Ala365Thr NC_000007.14:155803195:C:T p.(Ala365Thr) NC_000007.14:155803195:C:T p.(Ala365Thr) NC_000007.14:155803195:C:T Identity +NM_000516.7:c.476T>C NP_000507.1:p.Val159Ala NC_000020.11:58905425:T:C p.(Val159Ala) NC_000020.11:58905425:T:C p.(Val159Ala) NC_000020.11:58905425:T:C Identity +NM_001754.5:c.71G>A NP_001745.2:p.Gly24Glu NC_000021.9:34892950:C:T p.(Gly24Glu) NC_000021.9:34892950:C:T p.(Gly24Glu) NC_000021.9:34892950:C:T Identity +NM_007215.4:c.514G>A NP_009146.2:p.Glu172Lys NC_000017.11:64496454:C:T p.(Glu172Lys) NC_000017.11:64496454:C:T p.(Glu172Lys) NC_000017.11:64496454:C:T Identity +NM_000152.5:c.220C>T NP_000143.2:p.Arg74Cys NC_000017.11:80104805:C:T p.(Arg74Cys) NC_000017.11:80104805:C:T p.(Arg74Cys) NC_000017.11:80104805:C:T Identity +NM_001378414.1:c.3160G>A NP_001365343.1:p.Glu1054Lys NC_000002.12:239053529:C:T p.(Glu1054Lys) NC_000002.12:239053529:C:T p.(Glu1054Lys) NC_000002.12:239053529:C:T Identity +NM_000465.4:c.66_70delinsTGCGT NP_000456.2:p.Pro24Ser NC_000002.12:214809499:GCGCG:ACGCA p.(Pro24Ser) NC_000002.12:214809499:GCGCG:ACGCA p.(Pro24Ser) NC_000002.12:214809499:GCGCG:ACGCA Identity +NM_001283009.2:c.2726A>G NP_001269938.1:p.Gln909Arg NC_000020.11:63692877:A:G p.(Gln909Arg) NC_000020.11:63692877:A:G p.(Gln909Arg) NC_000020.11:63692877:A:G Identity +NM_001849.4:c.724G>A NP_001840.3:p.Ala242Thr NC_000021.9:46112812:G:A p.(Ala242Thr) NC_000021.9:46112812:G:A p.(Ala242Thr) NC_000021.9:46112812:G:A Identity +NM_001007188.4:c.451G>T NP_001007189.1:p.Val151Phe NC_000022.11:31778135:G:T p.(Val151Phe) NC_000022.11:31778135:G:T p.(Val151Phe) NC_000022.11:31778135:G:T Identity +NM_001035.3:c.1640A>T NP_001026.2:p.Asn547Ile NC_000001.11:237469118:A:T p.(Asn547Ile) NC_000001.11:237469118:A:T p.(Asn547Ile) NC_000001.11:237469118:A:T Identity +NM_001329126.2:c.3499A>G NP_001316055.1:p.Ile1167Val NC_000003.12:132490911:A:G p.(Ile1167Val) NC_000003.12:132490911:A:G p.(Ile1167Val) NC_000003.12:132490911:A:G Identity +NM_022788.5:c.227C>T NP_073625.1:p.Thr76Ile NC_000003.12:151338618:G:A p.(Thr76Ile) NC_000003.12:151338618:G:A p.(Thr76Ile) NC_000003.12:151338618:G:A Identity +NM_003737.4:c.7204G>A NP_003728.1:p.Asp2402Asn NC_000011.10:6624810:C:T p.(Asp2402Asn) NC_000011.10:6624810:C:T p.(Asp2402Asn) NC_000011.10:6624810:C:T Identity +NM_000527.5:c.1245C>A NP_000518.1:p.Asp415Glu NC_000019.10:11113335:C:A p.(Asp415Glu) NC_000019.10:11113335:C:A p.(Asp415Glu) NC_000019.10:11113335:C:A Identity +NM_000170.3:c.2933C>G NP_000161.2:p.Pro978Arg NC_000009.12:6533146:G:C p.(Pro978Arg) NC_000009.12:6533146:G:C p.(Pro978Arg) NC_000009.12:6533146:G:C Identity +NM_015378.4:c.9250G>C NP_056193.2:p.Gly3084Arg NC_000001.11:12349192:G:C p.(Gly3084Arg) NC_000001.11:12349192:G:C p.(Gly3084Arg) NC_000001.11:12349192:G:C Identity +NM_000063.6:c.1829_1832del NP_000054.2:p.Lys610fs NC_000006.12:31944148:AACAAACA:AACA p.(Lys610ArgfsTer10) NC_000006.12:31944148:AACAAACA:AACA p.(Lys610ArgfsTer10) NC_000006.12:31944152:AACA: Analogous +NM_000301.3:c.763delG NP_000292.1:p.Glu255Asnfs NC_000006.12:160716736:GGG:GG ERR:Data provider error: ValueError: Transcript NM_000301.3 not found ERR:Data provider error: ValueError: Transcript NM_000301.3 not found ERR:AlignmentMapper(tx_ac=NM_000301.3, alt_ac=NM_000301.3, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000301.3, alt_ac=NM_000301.3, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000301.3 not found +NM_001369.3:c.817C>T NP_001360.1:p.Gln273Ter NC_000005.10:13919333:G:A p.(Gln273Ter) NC_000005.10:13919333:G:A p.(Gln273Ter) NC_000005.10:13919333:G:A Identity +NM_001204824.2:c.1608G>C NP_001191753.1:p.Glu536Asp NC_000008.11:132129912:C:G p.(Glu536Asp) NC_000008.11:132129912:C:G p.(Glu536Asp) NC_000008.11:132129912:C:G Identity +NM_001316307.2:c.389G>A NP_001303236.1:p.Arg130Gln NC_000017.11:82033539:G:A p.(Arg130Gln) NC_000017.11:82033539:G:A p.(Arg130Gln) NC_000017.11:82033539:G:A Identity +NM_001319210.2:c.707G>T NP_001306139.1:p.Arg236Leu NC_000001.11:100462749:G:T p.(Arg236Leu) NC_000001.11:100462749:G:T p.(Arg236Leu) NC_000001.11:100462749:G:T Identity +NM_001007226.1:c.790C>T NP_001007227.1:p.Pro264Ser NC_000017.11:49607296:G:A p.(Pro264Ser) NC_000017.11:49607296:G:A p.(Pro264Ser) NC_000017.11:49607296:G:A Identity +NM_001256850.1:c.20375C>T NP_001243779.1:p.Ser6792Leu NC_000002.12:178723932:G:A p.(Ser6792Leu) NC_000002.12:178723932:G:A p.(Ser6792Leu) NC_000002.12:178723932:G:A Identity +NM_001411025.1:c.3949C>T NP_001397954.1:p.Arg1317Cys NC_000011.10:66698724:G:A p.(Arg1317Cys) NC_000011.10:66698724:G:A p.(Arg1317Cys) NC_000011.10:66698724:G:A Identity +NM_153252.5:c.319C>T NP_694984.5:p.Arg107Trp NC_000023.11:80793633:G:A p.(Arg107Trp) NC_000023.11:80793633:G:A p.(Arg107Trp) NC_000023.11:80793633:G:A Identity +NM_001142298.2:c.244C>G NP_001135770.1:p.Leu82Val NC_000005.10:179824051:C:G p.(Leu82Val) NC_000005.10:179824051:C:G p.(Leu82Val) NC_000005.10:179824051:C:G Identity +NM_001144769.5:c.364C>G NP_001138241.1:p.Arg122Gly NC_000006.12:56900473:G:C p.(Arg122Gly) NC_000006.12:56900473:G:C p.(Arg122Gly) NC_000006.12:56900473:G:C Identity +NM_001040875.4:c.193A>G NP_001035808.1:p.Met65Val NC_000008.11:74360222:A:G p.(Met65Val) NC_000008.11:74360222:A:G p.(Met65Val) NC_000008.11:74360222:A:G Identity +NM_001493.3:c.494C>G NP_001484.1:p.Thr165Ser NC_000023.11:154440045:C:G p.(Thr165Ser) NC_000023.11:154440045:C:G p.(Thr165Ser) NC_000023.11:154440045:C:G Identity +NM_000478.6:c.804C>G NP_000469.3:p.Phe268Leu NC_000001.11:21570315:C:G p.(Phe268Leu) NC_000001.11:21570315:C:G p.(Phe268Leu) NC_000001.11:21570315:C:G Identity +NM_001999.4:c.7487C>G NP_001990.2:p.Ser2496Cys NC_000005.10:128276144:G:C p.(Ser2496Cys) NC_000005.10:128276144:G:C p.(Ser2496Cys) NC_000005.10:128276144:G:C Identity +NM_003188.4:c.1001A>G NP_003179.1:p.Asn334Ser NC_000006.12:90548125:T:C p.(Asn334Ser) NC_000006.12:90548125:T:C p.(Asn334Ser) NC_000006.12:90548125:T:C Identity +NM_000834.5:c.2366T>C NP_000825.2:p.Met789Thr NC_000012.12:13567256:A:G p.(Met789Thr) NC_000012.12:13567256:A:G p.(Met789Thr) NC_000012.12:13567256:A:G Identity +NM_002430.3:c.2857G>C NP_002421.3:p.Val953Leu NC_000022.11:27797686:C:G p.(Val953Leu) NC_000022.11:27797686:C:G p.(Val953Leu) NC_000022.11:27797686:C:G Identity +NM_001165963.4:c.2067G>A NP_001159435.1:p.Met689Ile NC_000002.12:166042400:C:T p.(Met689Ile) NC_000002.12:166042400:C:T p.(Met689Ile) NC_000002.12:166042400:C:T Identity +NM_001174089.2:c.2471T>C NP_001167560.1:p.Leu824Pro NC_000020.11:3228345:A:G p.(Leu824Pro) NC_000020.11:3228345:A:G p.(Leu824Pro) NC_000020.11:3228345:A:G Identity +NM_020361.5:c.317A>G NP_065094.3:p.Lys106Arg NC_000008.11:67517922:T:C p.(Lys106Arg) NC_000008.11:67517922:T:C p.(Lys106Arg) NC_000008.11:67517922:T:C Identity +NM_001146056.3:c.461_471del NP_001139528.1:p.Leu154fs NC_000019.10:54180936:GCGGGCGGGCAGCGGGCGGGC:GCGGGCGGGC p.(Leu154ProfsTer65) NC_000019.10:54180936:GCGGGCGGGCAGCGGGCGGGC:GCGGGCGGGC p.(Leu154ProfsTer65) NC_000019.10:54180936:GCGGGCGGGCA: Analogous +NM_006593.4:c.1211T>C NP_006584.1:p.Met404Thr NC_000002.12:161423388:T:C p.(Met404Thr) NC_000002.12:161423388:T:C p.(Met404Thr) NC_000002.12:161423388:T:C Identity +NM_000458.4:c.1467G>C NP_000449.1:p.Gln489His NC_000017.11:37701049:C:G p.(Gln489His) NC_000017.11:37701049:C:G p.(Gln489His) NC_000017.11:37701049:C:G Identity +NM_001256850.1:c.5535G>C NP_001243779.1:p.Leu1845Phe NC_000002.12:178776328:C:G p.(Leu1845Phe) NC_000002.12:178776328:C:G p.(Leu1845Phe) NC_000002.12:178776328:C:G Identity +NM_139025.5:c.2824C>T NP_620594.1:p.Arg942Trp NC_000009.12:133448690:C:T p.(Arg942Trp) NC_000009.12:133448690:C:T p.(Arg942Trp) NC_000009.12:133448690:C:T Identity +NM_004990.4:c.416A>G NP_004981.2:p.Glu139Gly NC_000012.12:57489896:A:G p.(Glu139Gly) NC_000012.12:57489896:A:G p.(Glu139Gly) NC_000012.12:57489896:A:G Identity +NM_005475.3:c.116G>A NP_005466.1:p.Arg39Gln NC_000012.12:111418260:G:A p.(Arg39Gln) NC_000012.12:111418260:G:A p.(Arg39Gln) NC_000012.12:111418260:G:A Identity +NM_134261.3:c.43C>G NP_599023.1:p.Pro15Ala NC_000015.10:61229175:G:C p.(Pro15Ala) NC_000015.10:61229175:G:C p.(Pro15Ala) NC_000015.10:61229175:G:C Identity +NM_020184.4:c.2147A>G NP_064569.3:p.Tyr716Cys NC_000002.12:96809335:A:G p.(Tyr716Cys) NC_000002.12:96809335:A:G p.(Tyr716Cys) NC_000002.12:96809335:A:G Identity +NM_001201543.2:c.1440del NP_001188472.1:p.Glu481fs NC_000002.12:61839563:TT:T p.(Glu481LysfsTer3) NC_000002.12:61839563:TT:T p.(Glu481LysfsTer3) NC_000002.12:61839563:T: Analogous +NM_001379226.1:c.1298_1299del NP_001366155.1:p.Met433fs NC_000011.10:70492337:CA: p.(Met433LysfsTer73) NC_000011.10:70492337:CA: p.(Met433LysfsTer73) NC_000011.10:70492337:CA: Analogous +NM_018136.5:c.7850dup NP_060606.3:p.Gln2620fs NC_000001.11:197101400:A:AA p.(Gln2620ThrfsTer17) NC_000001.11:197101400:A:AA p.(Gln2620ThrfsTer17) ERR:SPDI Analogous +NM_001130066.2:c.2890C>T NP_001123538.1:p.Pro964Ser NC_000006.12:33443483:C:T p.(Pro964Ser) NC_000006.12:33443483:C:T p.(Pro964Ser) NC_000006.12:33443483:C:T Identity +NM_001278055.2:c.129T>A NP_001264984.1:p.Phe43Leu NC_000013.11:23358368:A:T p.(Phe43Leu) NC_000013.11:23358368:A:T p.(Phe43Leu) NC_000013.11:23358368:A:T Identity +NM_015634.4:c.616del NP_056449.1:p.Val206fs NC_000010.11:69005740:GG:G p.(Val206PhefsTer9) NC_000010.11:69005740:GG:G p.(Val206PhefsTer9) NC_000010.11:69005741:G: Analogous +NM_000138.5:c.8547T>G NP_000129.3:p.Tyr2849Ter NC_000015.10:48411058:A:C p.(Tyr2849Ter) NC_000015.10:48411058:A:C p.(Tyr2849Ter) NC_000015.10:48411058:A:C Identity +NM_001306190.2:c.525_526insC NP_001293119.1:p.Met176fs NC_000009.12:91296063::G p.(Met176HisfsTer5) NC_000009.12:91296062:T:G p.(Met176HisfsTer5) NC_000009.12:91296063:TT:G Analogous +NM_000500.9:c.1294G>A NP_000491.4:p.Glu432Lys NC_000006.12:32040939:G:A p.(Glu432Lys) NC_000006.12:32040939:G:A p.(Glu432Lys) NC_000006.12:32040939:G:A Identity +NM_001256053.2:c.3964A>G NP_001242982.1:p.Asn1322Asp NC_000010.11:27028856:T:C p.(Asn1322Asp) NC_000010.11:27028856:T:C p.(Asn1322Asp) NC_000010.11:27028856:T:C Identity +NM_001413184.1:c.2316_2317del NP_001400113.1:p.Ser773fs NC_000008.11:67258208:AAAA:AA p.(Ser773ArgfsTer47) NC_000008.11:67258208:AAAA:AA p.(Ser773ArgfsTer47) NC_000008.11:67258208:AA: Analogous +NM_001013406.2:c.1112A>G NP_001013424.1:p.Tyr371Cys NC_000007.14:92222976:T:C p.(Tyr371Cys) NC_000007.14:92222976:T:C p.(Tyr371Cys) NC_000007.14:92222976:T:C Identity +NM_001018037.2:c.3958A>G NP_001018047.1:p.Thr1320Ala NC_000009.12:77308058:A:G p.(Thr1320Ala) NC_000009.12:77308058:A:G p.(Thr1320Ala) NC_000009.12:77308058:A:G Identity +NM_001363850.1:c.2117T>C NP_001350779.1:p.Leu706Pro NC_000016.10:89554498:T:C p.(Leu706Pro) NC_000016.10:89554498:T:C p.(Leu706Pro) NC_000016.10:89554498:T:C Identity +NM_001256071.3:c.2494C>T NP_001243000.2:p.Arg832Trp NC_000017.11:80307193:C:T p.(Arg832Trp) NC_000017.11:80307193:C:T p.(Arg832Trp) NC_000017.11:80307193:C:T Identity +NM_031407.7:c.448C>T NP_113584.3:p.Arg150Cys NC_000023.11:53645366:G:A p.(Arg150Cys) NC_000023.11:53645366:G:A p.(Arg150Cys) NC_000023.11:53645366:G:A Identity +NM_001284271.2:c.2024G>A NP_001271200.1:p.Arg675His NC_000006.12:100718129:C:T p.(Arg675His) NC_000006.12:100718129:C:T p.(Arg675His) NC_000006.12:100718129:C:T Identity +NM_001079872.2:c.1852G>C NP_001073341.1:p.Glu618Gln NC_000023.11:120538659:C:G p.(Glu618Gln) NC_000023.11:120538659:C:G p.(Glu618Gln) NC_000023.11:120538659:C:G Identity +NM_001161587.2:c.1642G>A NP_001155059.1:p.Ala548Thr NC_000019.10:48969830:C:T p.(Ala548Thr) NC_000019.10:48969830:C:T p.(Ala548Thr) NC_000019.10:48969830:C:T Identity +NM_000185.4:c.466G>T NP_000176.2:p.Val156Phe NC_000022.11:20779777:G:T p.(Val156Phe) NC_000022.11:20779777:G:T p.(Val156Phe) NC_000022.11:20779777:G:T Identity +NM_000309.5:c.784C>T NP_000300.1:p.Leu262Phe NC_000001.11:161169159:C:T p.(Leu262Phe) NC_000001.11:161169159:C:T p.(Leu262Phe) NC_000001.11:161169159:C:T Identity +NM_001301829.2:c.3091G>A NP_001288758.1:p.Gly1031Arg NC_000013.11:95062837:C:T p.(Gly1031Arg) NC_000013.11:95062837:C:T p.(Gly1031Arg) NC_000013.11:95062837:C:T Identity +NM_001330990.2:c.3461C>G NP_001317919.1:p.Pro1154Arg NC_000003.12:47850079:C:G p.(Pro1154Arg) NC_000003.12:47850079:C:G p.(Pro1154Arg) NC_000003.12:47850079:C:G Identity +NM_014704.4:c.1015C>A NP_055519.1:p.Pro339Thr NC_000001.11:3837395:G:T p.(Pro339Thr) NC_000001.11:3837395:G:T p.(Pro339Thr) NC_000001.11:3837395:G:T Identity +NM_000435.3:c.3045C>G NP_000426.2:p.Cys1015Trp NC_000019.10:15180777:G:C p.(Cys1015Trp) NC_000019.10:15180777:G:C p.(Cys1015Trp) NC_000019.10:15180777:G:C Identity +NM_001346754.2:c.111del NP_001333683.1:p.Phe38fs NC_000017.11:36537209:GGG:GG p.(Phe38SerfsTer2) NC_000017.11:36537209:GGG:GG p.(Phe38SerfsTer2) NC_000017.11:36537211:G: Analogous +NM_001348729.2:c.5035C>T NP_001335658.1:p.Arg1679Ter NC_000002.12:8731003:G:A p.(Arg1679Ter) NC_000002.12:8731003:G:A p.(Arg1679Ter) NC_000002.12:8731003:G:A Identity +NM_001366177.2:c.5207C>G NP_001353106.1:p.Ala1736Gly NC_000001.11:155438947:G:C p.(Ala1736Gly) NC_000001.11:155438947:G:C p.(Ala1736Gly) NC_000001.11:155438947:G:C Identity +NM_001256071.3:c.11210A>G NP_001243000.2:p.Lys3737Arg NC_000017.11:80361742:A:G p.(Lys3737Arg) NC_000017.11:80361742:A:G p.(Lys3737Arg) NC_000017.11:80361742:A:G Identity +NM_020435.4:c.196G>T NP_065168.2:p.Val66Phe NC_000001.11:228157953:G:T p.(Val66Phe) NC_000001.11:228157953:G:T p.(Val66Phe) NC_000001.11:228157953:G:T Identity +NM_001003810.2:c.745C>T NP_001003810.1:p.Gln249Ter NC_000004.12:82356846:G:A p.(Gln249Ter) NC_000004.12:82356846:G:A p.(Gln249Ter) NC_000004.12:82356846:G:A Identity +NM_032119.4:c.8801C>A NP_115495.3:p.Ser2934Ter NC_000005.10:90708885:C:A p.(Ser2934Ter) NC_000005.10:90708885:C:A p.(Ser2934Ter) NC_000005.10:90708885:C:A Identity +NM_003742.4:c.3947C>T NP_003733.2:p.Thr1316Ile NC_000002.12:168923640:G:A p.(Thr1316Ile) NC_000002.12:168923640:G:A p.(Thr1316Ile) NC_000002.12:168923640:G:A Identity +NM_001256850.1:c.31132C>T NP_001243779.1:p.Pro10378Ser NC_000002.12:178689064:G:A p.(Pro10378Ser) NC_000002.12:178689064:G:A p.(Pro10378Ser) NC_000002.12:178689064:G:A Identity +NM_001283009.2:c.3420C>G NP_001269938.1:p.Tyr1140Ter NC_000020.11:63695141:C:G p.(Tyr1140Ter) NC_000020.11:63695141:C:G p.(Tyr1140Ter) NC_000020.11:63695141:C:G Identity +NM_000061.2:c.1544_1546delAGC NP_000052.1:p.Gln516del NC_000023.11:101356069:CTGCT:CT ERR:Data provider error: ValueError: Transcript NM_000061.2 not found ERR:Data provider error: ValueError: Transcript NM_000061.2 not found ERR:AlignmentMapper(tx_ac=NM_000061.2, alt_ac=NM_000061.2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_000061.2, alt_ac=NM_000061.2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_000061.2 not found +NM_001166005.2:c.1522C>T NP_001159477.1:p.Arg508Ter NC_000001.11:29039311:C:T p.(Arg508Ter) NC_000001.11:29039311:C:T p.(Arg508Ter) NC_000001.11:29039311:C:T Identity +NM_001351527.2:c.6133C>T NP_001338456.1:p.Arg2045Ter NC_000009.12:132288624:G:A p.(Arg2045Ter) NC_000009.12:132288624:G:A p.(Arg2045Ter) NC_000009.12:132288624:G:A Identity +NM_001039876.3:c.812T>G NP_001034965.1:p.Val271Gly NC_000019.10:36006477:A:C p.(Val271Gly) NC_000019.10:36006477:A:C p.(Val271Gly) NC_000019.10:36006477:A:C Identity +NM_001288705.3:c.2473G>C NP_001275634.1:p.Glu825Gln NC_000005.10:150056106:C:G p.(Glu825Gln) NC_000005.10:150056106:C:G p.(Glu825Gln) NC_000005.10:150056106:C:G Identity +NM_000180.4:c.71del NP_000171.1:p.Pro24fs NC_000017.11:8003116:CC:C p.(Pro24ArgfsTer61) NC_000017.11:8003116:CC:C p.(Pro24ArgfsTer61) NC_000017.11:8003117:C: Analogous +NM_001122769.3:c.1261C>T NP_001116241.1:p.Gln421Ter NC_000006.12:79487836:G:A p.(Gln421Ter) NC_000006.12:79487836:G:A p.(Gln421Ter) NC_000006.12:79487836:G:A Identity +NM_001142769.3:c.5050G>T NP_001136241.1:p.Glu1684Ter NC_000010.11:53809014:C:A p.(Glu1684Ter) NC_000010.11:53809014:C:A p.(Glu1684Ter) NC_000010.11:53809014:C:A Identity +NM_016343.4:c.7361T>C NP_057427.3:p.Val2454Ala NC_000001.11:214646930:T:C p.(Val2454Ala) NC_000001.11:214646930:T:C p.(Val2454Ala) NC_000001.11:214646930:T:C Identity +NM_001042544.1:c.2522G>T NP_001036009.1:p.Gly841Val NC_000019.10:40613085:G:T p.(Gly841Val) NC_000019.10:40613085:G:T p.(Gly841Val) NC_000019.10:40613085:G:T Identity +NM_012281.3:c.707G>A NP_036413.1:p.Cys236Tyr NC_000007.14:120275338:G:A p.(Cys236Tyr) NC_000007.14:120275338:G:A p.(Cys236Tyr) NC_000007.14:120275338:G:A Identity +NM_020988.3:c.107T>C NP_066268.1:p.Leu36Ser NC_000016.10:56192341:T:C p.(Leu36Ser) NC_000016.10:56192341:T:C p.(Leu36Ser) NC_000016.10:56192341:T:C Identity +NM_000260.4:c.1938del NP_000251.3:p.Phe647fs NC_000011.10:77174757:G: p.(Phe647SerfsTer15) NC_000011.10:77174757:G: p.(Phe647SerfsTer15) NC_000011.10:77174757:G: Analogous +NM_001288705.3:c.2563C>A NP_001275634.1:p.Pro855Thr NC_000005.10:150055327:G:T p.(Pro855Thr) NC_000005.10:150055327:G:T p.(Pro855Thr) NC_000005.10:150055327:G:T Identity +NM_000256.3:c.109G>T NP_000247.2:p.Gly37Ter NC_000011.10:47351421:C:A p.(Gly37Ter) NC_000011.10:47351421:C:A p.(Gly37Ter) NC_000011.10:47351421:C:A Identity +NM_001364948.3:c.871C>T NP_001351877.1:p.Gln291Ter NC_000007.14:141641391:C:T p.(Gln291Ter) NC_000007.14:141641391:C:T p.(Gln291Ter) NC_000007.14:141641391:C:T Identity +NM_000145.4:c.564_565del NP_000136.2:p.Ala189fs NC_000002.12:48983125:CACA:CA p.(Ala189IlefsTer8) NC_000002.12:48983125:CACA:CA p.(Ala189IlefsTer8) NC_000002.12:48983125:CA: Analogous +NM_001197104.2:c.6226G>C NP_001184033.1:p.Glu2076Gln NC_000011.10:118501053:G:C p.(Glu2076Gln) NC_000011.10:118501053:G:C p.(Glu2076Gln) NC_000011.10:118501053:G:C Identity +NM_000747.3:c.1435del NP_000738.2:p.Thr479fs NC_000017.11:7456651:A: p.(Thr479ProfsTer6) NC_000017.11:7456651:A: p.(Thr479ProfsTer6) NC_000017.11:7456651:A: Analogous +NM_001079812.3:c.2014T>G NP_001073280.1:p.Leu672Val NC_000005.10:141573808:A:C p.(Leu672Val) NC_000005.10:141573808:A:C p.(Leu672Val) NC_000005.10:141573808:A:C Identity +NM_001005752.2:c.687del NP_001005752.1:p.Ser230fs NC_000001.11:34785445:CCCC:CCC p.(Ser230ArgfsTer38) NC_000001.11:34785445:CCCC:CCC p.(Ser230ArgfsTer38) NC_000001.11:34785448:C: Analogous +NM_001040142.2:c.5429C>T NP_001035232.1:p.Thr1810Ile NC_000002.12:165389234:C:T p.(Thr1810Ile) NC_000002.12:165389234:C:T p.(Thr1810Ile) NC_000002.12:165389234:C:T Identity +NM_013436.5:c.1964C>G NP_038464.1:p.Pro655Arg NC_000002.12:182957513:G:C p.(Pro655Arg) NC_000002.12:182957513:G:C p.(Pro655Arg) NC_000002.12:182957513:G:C Identity +NM_001306090.2:c.1132A>G NP_001293019.1:p.Met378Val NC_000004.12:5752868:A:G p.(Met378Val) NC_000004.12:5752868:A:G p.(Met378Val) NC_000004.12:5752868:A:G Identity +NM_001134363.1:c.3636delG NP_001127835.1:p.Arg1212Serfs NC_000010.11:110835928:GG:G ERR:Data provider error: ValueError: Transcript NM_001134363.1 not found ERR:Data provider error: ValueError: Transcript NM_001134363.1 not found ERR:AlignmentMapper(tx_ac=NM_001134363.1, alt_ac=NM_001134363.1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=NM_001134363.1, alt_ac=NM_001134363.1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript NM_001134363.1 not found +NM_001166412.2:c.1138C>T NP_001159884.1:p.Arg380Cys NC_000006.12:168653080:C:T p.(Arg380Cys) NC_000006.12:168653080:C:T p.(Arg380Cys) NC_000006.12:168653080:C:T Identity +NM_000388.4:c.639_640delinsCC NP_000379.3:p.Ala214Pro NC_000003.12:122261673:AG:CC p.(Ala214Pro) NC_000003.12:122261673:AG:CC p.(Ala214Pro) NC_000003.12:122261673:AG:CC Identity +NM_001278064.2:c.2908C>T NP_001264993.1:p.Pro970Ser NC_000006.12:146434118:C:T p.(Pro970Ser) NC_000006.12:146434118:C:T p.(Pro970Ser) NC_000006.12:146434118:C:T Identity +NM_005482.3:c.712G>A NP_005473.1:p.Asp238Asn NC_000001.11:77161395:C:T p.(Asp238Asn) NC_000001.11:77161395:C:T p.(Asp238Asn) NC_000001.11:77161395:C:T Identity +NM_139025.5:c.161C>T NP_620594.1:p.Ala54Val NC_000009.12:133423155:C:T p.(Ala54Val) NC_000009.12:133423155:C:T p.(Ala54Val) NC_000009.12:133423155:C:T Identity +NM_001042465.3:c.717C>G NP_001035930.1:p.Asp239Glu NC_000010.11:71828016:G:C p.(Asp239Glu) NC_000010.11:71828016:G:C p.(Asp239Glu) NC_000010.11:71828016:G:C Identity +NM_001163812.2:c.568C>A NP_001157284.1:p.Leu190Ile NC_000010.11:100988777:C:A p.(Leu190Ile) NC_000010.11:100988777:C:A p.(Leu190Ile) NC_000010.11:100988777:C:A Identity +NM_198578.4:c.419A>T NP_940980.4:p.Asp140Val NC_000012.12:40235696:A:T p.(Asp140Val) NC_000012.12:40235696:A:T p.(Asp140Val) NC_000012.12:40235696:A:T Identity +NM_001379343.1:c.373T>C NP_001366272.1:p.Cys125Arg NC_000015.10:52135728:A:G p.(Cys125Arg) NC_000015.10:52135728:A:G p.(Cys125Arg) NC_000015.10:52135728:A:G Identity +NM_005861.4:c.13G>A NP_005852.2:p.Glu5Lys NC_000016.10:680537:G:A p.(Glu5Lys) NC_000016.10:680537:G:A p.(Glu5Lys) NC_000016.10:680537:G:A Identity +NM_020247.5:c.1009G>A NP_064632.2:p.Ala337Thr NC_000001.11:226982962:G:A p.(Ala337Thr) NC_000001.11:226982962:G:A p.(Ala337Thr) NC_000001.11:226982962:G:A Identity +NM_020435.4:c.773T>A NP_065168.2:p.Val258Glu NC_000001.11:228158530:T:A p.(Val258Glu) NC_000001.11:228158530:T:A p.(Val258Glu) NC_000001.11:228158530:T:A Identity +NM_000292.3:c.348C>A NP_000283.1:p.Tyr116Ter NC_000023.11:18951209:G:T p.(Tyr116Ter) NC_000023.11:18951209:G:T p.(Tyr116Ter) NC_000023.11:18951209:G:T Identity +NM_002076.4:c.878G>A NP_002067.1:p.Trp293Ter NC_000012.12:64739496:C:T p.(Trp293Ter) NC_000012.12:64739496:C:T p.(Trp293Ter) NC_000012.12:64739496:C:T Identity +NM_001195263.2:c.2201C>T NP_001182192.1:p.Pro734Leu NC_000010.11:101010687:G:A p.(Pro734Leu) NC_000010.11:101010687:G:A p.(Pro734Leu) NC_000010.11:101010687:G:A Identity +NM_001347721.2:c.1496C>A NP_001334650.1:p.Thr499Asn NC_000021.9:37505565:C:A p.(Thr499Asn) NC_000021.9:37505565:C:A p.(Thr499Asn) NC_000021.9:37505565:C:A Identity +NM_000296.4:c.4156C>T NP_000287.4:p.Gln1386Ter NC_000016.10:2111010:G:A p.(Gln1386Ter) NC_000016.10:2111010:G:A p.(Gln1386Ter) NC_000016.10:2111010:G:A Identity +NM_001256850.1:c.41385C>G NP_001243779.1:p.Tyr13795Ter NC_000002.12:178620108:G:C p.(Tyr13795Ter) NC_000002.12:178620108:G:C p.(Tyr13795Ter) NC_000002.12:178620108:G:C Identity +NM_000260.4:c.3008A>G NP_000251.3:p.Lys1003Arg NC_000011.10:77182053:A:G p.(Lys1003Arg) NC_000011.10:77182053:A:G p.(Lys1003Arg) NC_000011.10:77182053:A:G Identity +NM_000366.6:c.380T>A NP_000357.3:p.Met127Lys NC_000015.10:63059567:T:A p.(Met127Lys) NC_000015.10:63059567:T:A p.(Met127Lys) NC_000015.10:63059567:T:A Identity +NM_001110.4:c.1133A>C NP_001101.1:p.His378Pro NC_000015.10:58633238:T:G p.(His378Pro) NC_000015.10:58633238:T:G p.(His378Pro) NC_000015.10:58633238:T:G Identity +NM_001322151.2:c.465dup NP_001309080.1:p.Tyr156fs NC_000015.10:57192231:A:AA p.(Tyr156IlefsTer16) NC_000015.10:57192231:A:AA p.(Tyr156IlefsTer16) ERR:SPDI Analogous +NM_001012509.4:c.1318A>G NP_001012527.2:p.Thr440Ala NC_000005.10:33947212:T:C p.(Thr440Ala) NC_000005.10:33947212:T:C p.(Thr440Ala) NC_000005.10:33947212:T:C Identity +NM_001365276.2:c.5451_5476del NP_001352205.1:p.Val1819fs NC_000006.12:32069663:GGCTGCCCTCCACGGGCACCACCTGGGGCTGCCC:GGCTGCCC p.(Val1819GlyfsTer44) NC_000006.12:32069663:GGCTGCCCTCCACGGGCACCACCTGGGGCTGCCC:GGCTGCCC p.(Val1819GlyfsTer44) NC_000006.12:32069663:GGCTGCCCTCCACGGGCACCACCTGG: Analogous +NM_000047.3:c.1063G>A NP_000038.2:p.Gly355Ser NC_000023.11:2943127:C:T p.(Gly355Ser) NC_000023.11:2943127:C:T p.(Gly355Ser) NC_000023.11:2943127:C:T Identity +NM_001389618.1:c.106G>A NP_001376547.1:p.Glu36Lys NC_000010.11:48069:C:T p.(Glu36Lys) NC_000010.11:48069:C:T p.(Glu36Lys) NC_000010.11:48069:C:T Identity +NM_001374425.1:c.209G>A NP_001361354.1:p.Gly70Glu NC_000001.11:2408842:C:T p.(Gly70Glu) NC_000001.11:2408842:C:T p.(Gly70Glu) NC_000001.11:2408842:C:T Identity +NM_001040142.2:c.4216G>T NP_001035232.1:p.Asp1406Tyr NC_000002.12:165374927:G:T p.(Asp1406Tyr) NC_000002.12:165374927:G:T p.(Asp1406Tyr) NC_000002.12:165374927:G:T Identity +NM_001128620.2:c.850G>A NP_001122092.1:p.Val284Met NC_000011.10:77349273:C:T p.(Val284Met) NC_000011.10:77349273:C:T p.(Val284Met) NC_000011.10:77349273:C:T Identity +NM_001166136.2:c.1499del NP_001159608.1:p.Phe500fs NC_000004.12:5628705:AAAAA:AAAA p.(Phe500SerfsTer9) NC_000004.12:5628705:AAAAA:AAAA p.(Phe500SerfsTer9) NC_000004.12:5628705:A: Analogous +NM_001024843.2:c.1408C>T NP_001020014.1:p.Gln470Ter NC_000022.11:40300565:C:T p.(Gln470Ter) NC_000022.11:40300565:C:T p.(Gln470Ter) NC_000022.11:40300565:C:T Identity +NM_000495.5:c.2933C>A NP_000486.1:p.Ser978Ter NC_000023.11:108624250:C:A p.(Ser978Ter) NC_000023.11:108624250:C:A p.(Ser978Ter) NC_000023.11:108624250:C:A Identity +NM_006343.3:c.590C>T NP_006334.2:p.Pro197Leu NC_000002.12:111947399:C:T p.(Pro197Leu) NC_000002.12:111947399:C:T p.(Pro197Leu) NC_000002.12:111947399:C:T Identity +NM_004004.6:c.428G>C NP_003995.2:p.Arg143Pro NC_000013.11:20189153:C:G p.(Arg143Pro) NC_000013.11:20189153:C:G p.(Arg143Pro) NC_000013.11:20189153:C:G Identity +NM_000296.4:c.4499G>A NP_000287.4:p.Trp1500Ter NC_000016.10:2110667:C:T p.(Trp1500Ter) NC_000016.10:2110667:C:T p.(Trp1500Ter) NC_000016.10:2110667:C:T Identity +NM_001035.3:c.14308A>G NP_001026.2:p.Thr4770Ala NC_000001.11:237808909:A:G p.(Thr4770Ala) NC_000001.11:237808909:A:G p.(Thr4770Ala) NC_000001.11:237808909:A:G Identity +NM_000095.3:c.1520A>C NP_000086.2:p.Asp507Ala NC_000019.10:18785820:T:G p.(Asp507Ala) NC_000019.10:18785820:T:G p.(Asp507Ala) NC_000019.10:18785820:T:G Identity +NM_001261414.3:c.1328T>C NP_001248343.1:p.Met443Thr NC_000012.12:23543290:A:G p.(Met443Thr) NC_000012.12:23543290:A:G p.(Met443Thr) NC_000012.12:23543290:A:G Identity +NM_000902.5:c.1715C>A NP_000893.2:p.Ser572Ter NC_000003.12:155166955:C:A p.(Ser572Ter) NC_000003.12:155166955:C:A p.(Ser572Ter) NC_000003.12:155166955:C:A Identity +NM_001393363.1:c.904C>T NP_001380292.1:p.Gln302Ter NC_000003.12:33130048:C:T p.(Gln302Ter) NC_000003.12:33130048:C:T p.(Gln302Ter) NC_000003.12:33130048:C:T Identity +NM_014271.4:c.974AAG[1] NP_055086.1:p.Glu326del NC_000023.11:29920009:GAAGAAG:GAAG p.(Glu326del) NC_000023.11:29920010:A:AAG ERR:Parse ERR:Parse Identity +NM_001139.3:c.1798C>T NP_001130.1:p.Arg600Trp NC_000017.11:8073275:G:A p.(Arg600Trp) NC_000017.11:8073275:G:A p.(Arg600Trp) NC_000017.11:8073275:G:A Identity +NM_000352.6:c.663C>G NP_000343.2:p.Phe221Leu NC_000011.10:17461741:G:C p.(Phe221Leu) NC_000011.10:17461741:G:C p.(Phe221Leu) NC_000011.10:17461741:G:C Identity +NM_001142929.2:c.652A>T NP_001136401.2:p.Ile218Leu NC_000010.11:49627679:A:T p.(Ile218Leu) NC_000010.11:49627679:A:T p.(Ile218Leu) NC_000010.11:49627679:A:T Identity +NM_020338.4:c.1664del NP_065071.1:p.Pro555fs NC_000010.11:79298573:CCCCC:CCCC p.(Pro555GlnfsTer46) NC_000010.11:79298573:CCCCC:CCCC p.(Pro555GlnfsTer46) NC_000010.11:79298577:C: Analogous +NM_002471.4:c.5203G>A NP_002462.2:p.Asp1735Asn NC_000014.9:23385001:C:T p.(Asp1735Asn) NC_000014.9:23385001:C:T p.(Asp1735Asn) NC_000014.9:23385001:C:T Identity +NM_001080449.3:c.935G>A NP_001073918.2:p.Ser312Asn NC_000010.11:68450031:C:T p.(Ser312Asn) NC_000010.11:68450031:C:T p.(Ser312Asn) NC_000010.11:68450031:C:T Identity +NM_001282279.2:c.76G>A NP_001269208.1:p.Ala26Thr NC_000017.11:81936184:C:T p.(Ala26Thr) NC_000017.11:81936184:C:T p.(Ala26Thr) NC_000017.11:81936184:C:T Identity +NM_000334.4:c.794C>T NP_000325.4:p.Ala265Val NC_000017.11:63968264:G:A p.(Ala265Val) NC_000017.11:63968264:G:A p.(Ala265Val) NC_000017.11:63968264:G:A Identity +NM_000457.6:c.763del NP_000448.3:p.Cys255fs NC_000020.11:44419746:T: p.(Cys255AlafsTer7) NC_000020.11:44419746:T: p.(Cys255AlafsTer7) NC_000020.11:44419746:T: Analogous +NM_001145853.1:c.2286G>T NP_001139325.1:p.Lys762Asn NC_000004.12:6302080:G:T p.(Lys762Asn) NC_000004.12:6302080:G:T p.(Lys762Asn) NC_000004.12:6302080:G:T Identity +NM_001286457.2:c.142A>G NP_001273386.2:p.Ser48Gly NC_000016.10:8923407:T:C p.(Ser48Gly) NC_000016.10:8923407:T:C p.(Ser48Gly) NC_000016.10:8923407:T:C Identity +NM_004521.3:c.1751A>T NP_004512.1:p.Asp584Val NC_000010.11:32023010:T:A p.(Asp584Val) NC_000010.11:32023010:T:A p.(Asp584Val) NC_000010.11:32023010:T:A Identity +NM_001378285.1:c.5T>A NP_001365214.1:p.Leu2Gln NC_000003.12:149846030:T:A p.(Leu2Gln) NC_000003.12:149846030:T:A p.(Leu2Gln) NC_000003.12:149846030:T:A Identity +NM_000457.6:c.113A>C NP_000448.3:p.Asn38Thr NC_000020.11:44401484:A:C p.(Asn38Thr) NC_000020.11:44401484:A:C p.(Asn38Thr) NC_000020.11:44401484:A:C Identity +NM_019066.5:c.2600C>G NP_061939.3:p.Thr867Ser NC_000015.10:23645142:G:C p.(Thr867Ser) NC_000015.10:23645142:G:C p.(Thr867Ser) NC_000015.10:23645142:G:C Identity +NM_000296.4:c.3242C>A NP_000287.4:p.Ser1081Ter NC_000016.10:2112392:G:T p.(Ser1081Ter) NC_000016.10:2112392:G:T p.(Ser1081Ter) NC_000016.10:2112392:G:T Identity +NM_000296.4:c.1907_1916dup NP_000287.4:p.Cys640fs NC_000016.10:2115558:GCGGGGGCCAGC:GCGGGGGCCAGCGGGGGCCAGC p.(Cys640GlyfsTer77) NC_000016.10:2115558:GCGGGGGCCAGC:GCGGGGGCCAGCGGGGGCCAGC p.(Cys640GlyfsTer77) ERR:SPDI Analogous +NM_001029896.2:c.641G>T NP_001025067.1:p.Gly214Val NC_000023.11:49075628:C:A p.(Gly214Val) NC_000023.11:49075628:C:A p.(Gly214Val) NC_000023.11:49075628:C:A Identity +NM_000350.3:c.749del NP_000341.2:p.Phe250fs NC_000001.11:94098812:AA:A p.(Phe250SerfsTer12) NC_000001.11:94098812:AA:A p.(Phe250SerfsTer12) NC_000001.11:94098812:A: Analogous +NM_000321.3:c.1343_1344del NP_000312.2:p.Leu448fs NC_000013.11:48379603:TT: p.(Leu448ArgfsTer14) NC_000013.11:48379603:TT: p.(Leu448ArgfsTer14) NC_000013.11:48379603:TT: Analogous +NM_001013406.2:c.1676dup NP_001013424.1:p.Asn559fs NC_000007.14:92213399:TT:TTT p.(Asn559LysfsTer6) NC_000007.14:92213399:TT:TTT p.(Asn559LysfsTer6) ERR:SPDI Analogous +NM_016604.4:c.3823A>G NP_057688.3:p.Asn1275Asp NC_000005.10:138420812:A:G p.(Asn1275Asp) NC_000005.10:138420812:A:G p.(Asn1275Asp) NC_000005.10:138420812:A:G Identity +NM_001040113.2:c.3642G>C NP_001035202.1:p.Glu1214Asp NC_000016.10:15732593:C:G p.(Glu1214Asp) NC_000016.10:15732593:C:G p.(Glu1214Asp) NC_000016.10:15732593:C:G Identity +NM_000050.4:c.440T>C NP_000041.2:p.Met147Thr NC_000009.12:130466743:T:C p.(Met147Thr) NC_000009.12:130466743:T:C p.(Met147Thr) NC_000009.12:130466743:T:C Identity +NM_001037631.3:c.221T>C NP_001032720.1:p.Leu74Pro NC_000002.12:203870696:T:C p.(Leu74Pro) NC_000002.12:203870696:T:C p.(Leu74Pro) NC_000002.12:203870696:T:C Identity +NM_001354263.2:c.3788T>A NP_001341192.1:p.Leu1263Gln NC_000009.12:137834864:T:A p.(Leu1263Gln) NC_000009.12:137834864:T:A p.(Leu1263Gln) NC_000009.12:137834864:T:A Identity +NM_000144.5:c.2del NP_000135.2:p.Met1fs NC_000009.12:69035783:T: p.(Met1SerfsTer9) NC_000009.12:69035783:T: p.Met1? NC_000009.12:69035783:T: Analogous +NM_001411054.1:c.1933A>G NP_001397983.1:p.Lys645Glu NC_000014.9:102970212:T:C p.(Lys645Glu) NC_000014.9:102970212:T:C p.(Lys645Glu) NC_000014.9:102970212:T:C Identity +NM_000047.3:c.1742G>A NP_000038.2:p.Trp581Ter NC_000023.11:2934859:C:T p.(Trp581Ter) NC_000023.11:2934859:C:T p.(Trp581Ter) NC_000023.11:2934859:C:T Identity +NM_001372106.1:c.4942T>C NP_001359035.1:p.Cys1648Arg NC_000012.12:123838494:T:C p.(Cys1648Arg) NC_000012.12:123838494:T:C p.(Cys1648Arg) NC_000012.12:123838494:T:C Identity +NM_001391943.1:c.723C>A NP_001378872.1:p.Cys241Ter NC_000011.10:60874961:C:A p.(Cys241Ter) NC_000011.10:60874961:C:A p.(Cys241Ter) NC_000011.10:60874961:C:A Identity +NM_001351444.2:c.47_48del NP_001338373.1:p.Gln16fs NC_000006.12:87218659:AA: p.(Gln16ArgfsTer21) NC_000006.12:87218659:AA: p.(Gln16ArgfsTer21) NC_000006.12:87218659:AA: Analogous +NM_014727.3:c.5924C>T NP_055542.1:p.Pro1975Leu NC_000019.10:35732472:C:T p.(Pro1975Leu) NC_000019.10:35732472:C:T p.(Pro1975Leu) NC_000019.10:35732472:C:T Identity +NM_139318.5:c.2020A>G NP_647479.2:p.Ile674Val NC_000014.9:62708454:T:C p.(Ile674Val) NC_000014.9:62708454:T:C p.(Ile674Val) NC_000014.9:62708454:T:C Identity +NM_001042537.2:c.997_998delinsAA NP_001036002.1:p.Gly333Lys NC_000023.11:136010538:GG:AA p.(Gly333Lys) NC_000023.11:136010538:GG:AA p.(Gly333Lys) NC_000023.11:136010538:GG:AA Identity +NM_000350.3:c.2657del NP_000341.2:p.Cys886fs NC_000001.11:94048953:C: p.(Cys886PhefsTer15) NC_000001.11:94048953:C: p.(Cys886PhefsTer15) NC_000001.11:94048953:C: Analogous +NM_001166102.2:c.131T>C NP_001159574.1:p.Leu44Pro NC_000011.10:67608553:T:C p.(Leu44Pro) NC_000011.10:67608553:T:C p.(Leu44Pro) NC_000011.10:67608553:T:C Identity +NM_001083116.3:c.665A>T NP_001076585.1:p.His222Leu NC_000010.11:70599055:T:A p.(His222Leu) NC_000010.11:70599055:T:A p.(His222Leu) NC_000010.11:70599055:T:A Identity +NM_000532.5:c.1229G>T NP_000523.2:p.Arg410Leu NC_000003.12:136327184:G:T p.(Arg410Leu) NC_000003.12:136327184:G:T p.(Arg410Leu) NC_000003.12:136327184:G:T Identity +NM_000552.5:c.6539dup NP_000543.3:p.Tyr2180Ter NC_000012.12:5993920:T:TT p.(Tyr2180Ter) NC_000012.12:5993920:T:TT p.(Tyr2180Ter) ERR:SPDI Identity +NM_005862.3:c.3286A>G NP_005853.2:p.Asn1096Asp NC_000003.12:136343991:T:C p.(Asn1096Asp) NC_000003.12:136343991:T:C p.(Asn1096Asp) NC_000003.12:136343991:T:C Identity +NM_001135669.2:c.929A>G NP_001129141.1:p.Asn310Ser NC_000001.11:180824917:A:G p.(Asn310Ser) NC_000001.11:180824917:A:G p.(Asn310Ser) NC_000001.11:180824917:A:G Identity +NM_000088.4:c.3854A>G NP_000079.2:p.Asp1285Gly NC_000017.11:50186467:T:C p.(Asp1285Gly) NC_000017.11:50186467:T:C p.(Asp1285Gly) NC_000017.11:50186467:T:C Identity +NM_021957.4:c.1738C>T NP_068776.2:p.Arg580Cys NC_000012.12:21540480:G:A p.(Arg580Cys) NC_000012.12:21540480:G:A p.(Arg580Cys) NC_000012.12:21540480:G:A Identity +NM_000209.4:c.178G>T NP_000200.1:p.Gly60Cys NC_000013.11:27920315:G:T p.(Gly60Cys) NC_000013.11:27920315:G:T p.(Gly60Cys) NC_000013.11:27920315:G:T Identity +NM_001244710.2:c.1096G>A NP_001231639.1:p.Asp366Asn NC_000002.12:69345912:C:T p.(Asp366Asn) NC_000002.12:69345912:C:T p.(Asp366Asn) NC_000002.12:69345912:C:T Identity +NM_001379291.1:c.2308C>T NP_001366220.1:p.Pro770Ser NC_000019.10:15244503:G:A p.(Pro770Ser) NC_000019.10:15244503:G:A p.(Pro770Ser) NC_000019.10:15244503:G:A Identity +NM_001184772.3:c.1985T>C NP_001171701.1:p.Leu662Pro NC_000023.11:130014756:T:C p.(Leu662Pro) NC_000023.11:130014756:T:C p.(Leu662Pro) NC_000023.11:130014756:T:C Identity +NM_000185.4:c.1471G>T NP_000176.2:p.Gly491Ter NC_000022.11:20787036:G:T p.(Gly491Ter) NC_000022.11:20787036:G:T p.(Gly491Ter) NC_000022.11:20787036:G:T Identity +NM_001304840.3:c.1430C>T NP_001291769.1:p.Thr477Met NC_000002.12:196308021:G:A p.(Thr477Met) NC_000002.12:196308021:G:A p.(Thr477Met) NC_000002.12:196308021:G:A Identity +NM_000068.4:c.3830A>G NP_000059.3:p.Asn1277Ser NC_000019.10:13283270:T:C p.(Asn1277Ser) NC_000019.10:13283270:T:C p.(Asn1277Ser) NC_000019.10:13283270:T:C Identity +NM_000540.3:c.13739T>A NP_000531.2:p.Phe4580Tyr NC_000019.10:38570685:T:A p.(Phe4580Tyr) NC_000019.10:38570685:T:A p.(Phe4580Tyr) NC_000019.10:38570685:T:A Identity +NM_001035.3:c.930A>C NP_001026.2:p.Glu310Asp NC_000001.11:237423172:A:C p.(Glu310Asp) NC_000001.11:237423172:A:C p.(Glu310Asp) NC_000001.11:237423172:A:C Identity +NM_000540.3:c.9798G>A NP_000531.2:p.Met3266Ile NC_000019.10:38517470:G:A p.(Met3266Ile) NC_000019.10:38517470:G:A p.(Met3266Ile) NC_000019.10:38517470:G:A Identity +NM_000053.4:c.217G>A NP_000044.2:p.Val73Met NC_000013.11:51975002:C:T p.(Val73Met) NC_000013.11:51975002:C:T p.(Val73Met) NC_000013.11:51975002:C:T Identity +NM_000335.5:c.2614G>C NP_000326.2:p.Asp872His NC_000003.12:38585863:C:G p.(Asp872His) NC_000003.12:38585863:C:G p.(Asp872His) NC_000003.12:38585863:C:G Identity +NM_000335.5:c.2431_2435dup NP_000326.2:p.Leu813fs NC_000003.12:38587400:AGGCG:AGGCGAGGCG p.(Leu813AlafsTer15) NC_000003.12:38587400:AGGCG:AGGCGAGGCG p.(Leu813AlafsTer15) ERR:SPDI Analogous +NM_032108.4:c.916C>G NP_115484.2:p.Gln306Glu NC_000019.10:4552494:G:C p.(Gln306Glu) NC_000019.10:4552494:G:C p.(Gln306Glu) NC_000019.10:4552494:G:C Identity +NM_000162.5:c.424A>T NP_000153.1:p.Lys142Ter NC_000007.14:44151014:T:A p.(Lys142Ter) NC_000007.14:44151014:T:A p.(Lys142Ter) NC_000007.14:44151014:T:A Identity +NM_004463.3:c.53del NP_004454.2:p.Pro18fs NC_000023.11:54495379:GGG:GG p.(Pro18ArgfsTer106) NC_000023.11:54495379:GGG:GG p.(Pro18ArgfsTer106) NC_000023.11:54495379:G: Analogous +NM_001206836.2:c.196G>T NP_001193765.1:p.Asp66Tyr NC_000015.10:65877486:G:T p.(Asp66Tyr) NC_000015.10:65877486:G:T p.(Asp66Tyr) NC_000015.10:65877486:G:T Identity +NM_000378.6:c.43C>T NP_000369.4:p.Pro15Ser NC_000011.10:32435317:G:A p.(Pro15Ser) NC_000011.10:32435317:G:A p.(Pro15Ser) NC_000011.10:32435317:G:A Identity +NM_001371986.1:c.9227A>G NP_001358915.1:p.Gln3076Arg NC_000002.12:209982286:A:G p.(Gln3076Arg) NC_000002.12:209982286:A:G p.(Gln3076Arg) NC_000002.12:209982286:A:G Identity +NM_000255.4:c.410C>T NP_000246.2:p.Ala137Val NC_000006.12:49458033:G:A p.(Ala137Val) NC_000006.12:49458033:G:A p.(Ala137Val) NC_000006.12:49458033:G:A Identity +NM_015001.3:c.7567A>G NP_055816.2:p.Lys2523Glu NC_000001.11:15933806:A:G p.(Lys2523Glu) NC_000001.11:15933806:A:G p.(Lys2523Glu) NC_000001.11:15933806:A:G Identity +NM_014516.4:c.620T>C NP_055331.1:p.Val207Ala NC_000019.10:54145733:T:C p.(Val207Ala) NC_000019.10:54145733:T:C p.(Val207Ala) NC_000019.10:54145733:T:C Identity +NM_000069.3:c.3319T>C NP_000060.2:p.Tyr1107His NC_000001.11:201060752:A:G p.(Tyr1107His) NC_000001.11:201060752:A:G p.(Tyr1107His) NC_000001.11:201060752:A:G Identity +NM_000069.3:c.1610A>G NP_000060.2:p.Lys537Arg NC_000001.11:201077887:T:C p.(Lys537Arg) NC_000001.11:201077887:T:C p.(Lys537Arg) NC_000001.11:201077887:T:C Identity +NM_001406506.1:c.159_160insCGTGTCCT NP_001393435.1:p.Cys54fs NC_000018.10:31089480:A:AGGACACGA p.(Cys54ArgfsTer8) NC_000018.10:31089479:A:AGGACACG p.(Cys54ArgfsTer8) NC_000018.10:31089480:AA:AGGACACG Analogous +NM_001145102.2:c.335A>G NP_001138574.1:p.Asn112Ser NC_000015.10:67170595:A:G p.(Asn112Ser) NC_000015.10:67170595:A:G p.(Asn112Ser) NC_000015.10:67170595:A:G Identity +NM_001035.3:c.3251G>T NP_001026.2:p.Arg1084Met NC_000001.11:237566602:G:T p.(Arg1084Met) NC_000001.11:237566602:G:T p.(Arg1084Met) NC_000001.11:237566602:G:T Identity +NM_001220482.2:c.308C>T NP_001207411.1:p.Pro103Leu NC_000015.10:37096367:G:A p.(Pro103Leu) NC_000015.10:37096367:G:A p.(Pro103Leu) NC_000015.10:37096367:G:A Identity +NM_001031681.3:c.578A>G NP_001026851.2:p.Lys193Arg NC_000017.11:3656691:A:G p.(Lys193Arg) NC_000017.11:3656691:A:G p.(Lys193Arg) NC_000017.11:3656691:A:G Identity +NM_001008844.3:c.3380C>T NP_001008844.1:p.Ser1127Phe NC_000006.12:7579569:C:T p.(Ser1127Phe) NC_000006.12:7579569:C:T p.(Ser1127Phe) NC_000006.12:7579569:C:T Identity +NM_001008844.3:c.6324G>A NP_001008844.1:p.Met2108Ile NC_000006.12:7585382:G:A p.(Met2108Ile) NC_000006.12:7585382:G:A p.(Met2108Ile) NC_000006.12:7585382:G:A Identity +NM_000138.5:c.8263A>T NP_000129.3:p.Ser2755Cys NC_000015.10:48411342:T:A p.(Ser2755Cys) NC_000015.10:48411342:T:A p.(Ser2755Cys) NC_000015.10:48411342:T:A Identity +NM_000238.4:c.1990C>T NP_000229.1:p.Gln664Ter NC_000007.14:150951075:G:A p.(Gln664Ter) NC_000007.14:150951075:G:A p.(Gln664Ter) NC_000007.14:150951075:G:A Identity +NM_000238.4:c.372G>A NP_000229.1:p.Met124Ile NC_000007.14:150959671:C:T p.(Met124Ile) NC_000007.14:150959671:C:T p.(Met124Ile) NC_000007.14:150959671:C:T Identity +NM_000059.4:c.3090del NP_000050.3:p.Phe1031fs NC_000013.11:32337444:C: p.(Phe1031SerfsTer12) NC_000013.11:32337444:C: p.(Phe1031SerfsTer12) NC_000013.11:32337444:C: Analogous +NM_000069.3:c.4817G>C NP_000060.2:p.Gly1606Ala NC_000001.11:201043511:C:G p.(Gly1606Ala) NC_000001.11:201043511:C:G p.(Gly1606Ala) NC_000001.11:201043511:C:G Identity +NM_000069.3:c.4715G>A NP_000060.2:p.Arg1572His NC_000001.11:201044409:C:T p.(Arg1572His) NC_000001.11:201044409:C:T p.(Arg1572His) NC_000001.11:201044409:C:T Identity +NM_000069.3:c.133A>G NP_000060.2:p.Ile45Val NC_000001.11:201112206:T:C p.(Ile45Val) NC_000001.11:201112206:T:C p.(Ile45Val) NC_000001.11:201112206:T:C Identity +NM_000020.3:c.1494G>T NP_000011.2:p.Lys498Asn NC_000012.12:51920874:G:T p.(Lys498Asn) NC_000012.12:51920874:G:T p.(Lys498Asn) NC_000012.12:51920874:G:T Identity +NM_000463.3:c.652dup NP_000454.1:p.Ser218fs NC_000002.12:233760935:TTTT:TTTTT p.(Ser218PhefsTer40) NC_000002.12:233760935:TTTT:TTTTT p.(Ser218PhefsTer40) ERR:SPDI Analogous +NM_000527.5:c.497C>T NP_000518.1:p.Ala166Val NC_000019.10:11105402:C:T p.(Ala166Val) NC_000019.10:11105402:C:T p.(Ala166Val) NC_000019.10:11105402:C:T Identity +NM_000038.6:c.7663T>A NP_000029.2:p.Ser2555Thr NC_000005.10:112843256:T:A p.(Ser2555Thr) NC_000005.10:112843256:T:A p.(Ser2555Thr) NC_000005.10:112843256:T:A Identity +NM_000053.4:c.637A>G NP_000044.2:p.Lys213Glu NC_000013.11:51974582:T:C p.(Lys213Glu) NC_000013.11:51974582:T:C p.(Lys213Glu) NC_000013.11:51974582:T:C Identity +NM_000335.5:c.4075_4077del NP_000326.2:p.Phe1359del NC_000003.12:38560311:AAA: p.(Phe1359del) NC_000003.12:38560311:AAA: p.(Phe1359del) NC_000003.12:38560311:AAA: Identity +NM_000059.4:c.4902_4905del NP_000050.3:p.Phe1634fs NC_000013.11:32339256:TTTG: p.(Phe1634LeufsTer9) NC_000013.11:32339256:TTTG: p.(Phe1634LeufsTer9) NC_000013.11:32339256:TTTG: Analogous +NM_005257.6:c.690_708del NP_005248.2:p.Asp231fs NC_000018.10:22171829:CGGCCGACAGCCCTCCATACGGC:CGGC p.(Asp231AlafsTer57) NC_000018.10:22171829:CGGCCGACAGCCCTCCATACGGC:CGGC p.(Asp231AlafsTer57) NC_000018.10:22171833:CGACAGCCCTCCATACGGC: Analogous +NM_000257.4:c.1739T>A NP_000248.2:p.Ile580Asn NC_000014.9:23427733:A:T p.(Ile580Asn) NC_000014.9:23427733:A:T p.(Ile580Asn) NC_000014.9:23427733:A:T Identity +NM_000540.3:c.1520G>A NP_000531.2:p.Gly507Glu NC_000019.10:38455313:G:A p.(Gly507Glu) NC_000019.10:38455313:G:A p.(Gly507Glu) NC_000019.10:38455313:G:A Identity +NM_001194937.2:c.3816_3819del NP_001181866.1:p.Lys1272fs NC_000001.11:151405188:TTCCTTCC:TTCC p.(Lys1272AsnfsTer28) NC_000001.11:151405188:TTCCTTCC:TTCC p.(Lys1272AsnfsTer28) NC_000001.11:151405188:TTCC: Analogous +NM_006345.4:c.154C>T NP_006336.3:p.Pro52Ser NC_000004.12:42001659:C:T p.(Pro52Ser) NC_000004.12:42001659:C:T p.(Pro52Ser) NC_000004.12:42001659:C:T Identity +NM_001166111.2:c.1457C>A NP_001159583.1:p.Ser486Ter NC_000019.10:7542827:C:A p.(Ser486Ter) NC_000019.10:7542827:C:A p.(Ser486Ter) NC_000019.10:7542827:C:A Identity +NM_000690.4:c.281G>A NP_000681.2:p.Arg94His NC_000012.12:111783218:G:A p.(Arg94His) NC_000012.12:111783218:G:A p.(Arg94His) NC_000012.12:111783218:G:A Identity +NM_001366177.2:c.2883C>G NP_001353106.1:p.Asp961Glu NC_000001.11:155479986:G:C p.(Asp961Glu) NC_000001.11:155479986:G:C p.(Asp961Glu) NC_000001.11:155479986:G:C Identity +NM_001316690.1:c.400C>A NP_001303619.1:p.His134Asn NC_000008.11:60741831:C:A p.(His134Asn) NC_000008.11:60741831:C:A p.(His134Asn) NC_000008.11:60741831:C:A Identity +NM_001173479.2:c.274C>G NP_001166950.1:p.Leu92Val NC_000023.11:63697252:G:C p.(Leu92Val) NC_000023.11:63697252:G:C p.(Leu92Val) NC_000023.11:63697252:G:C Identity +NM_000238.4:c.2360T>G NP_000229.1:p.Ile787Ser NC_000007.14:150950205:A:C p.(Ile787Ser) NC_000007.14:150950205:A:C p.(Ile787Ser) NC_000007.14:150950205:A:C Identity +NM_000244.4:c.93G>C NP_000235.3:p.Glu31Asp NC_000011.10:64810016:C:G p.(Glu31Asp) NC_000011.10:64810016:C:G p.(Glu31Asp) NC_000011.10:64810016:C:G Identity +NM_000540.3:c.10180_10189del NP_000531.2:p.Val3394fs NC_000019.10:38519373:GGTGCGGGACG:G p.(Val3394SerfsTer28) NC_000019.10:38519373:GGTGCGGGACG:G p.(Val3394SerfsTer28) NC_000019.10:38519374:GTGCGGGACG: Analogous +NM_000540.3:c.10452A>G NP_000531.2:p.Ile3484Met NC_000019.10:38523925:A:G p.(Ile3484Met) NC_000019.10:38523925:A:G p.(Ile3484Met) NC_000019.10:38523925:A:G Identity +NM_000540.3:c.14009T>C NP_000531.2:p.Val4670Ala NC_000019.10:38573186:T:C p.(Val4670Ala) NC_000019.10:38573186:T:C p.(Val4670Ala) NC_000019.10:38573186:T:C Identity +NM_001035.3:c.4328T>C NP_001026.2:p.Val1443Ala NC_000001.11:237593527:T:C p.(Val1443Ala) NC_000001.11:237593527:T:C p.(Val1443Ala) NC_000001.11:237593527:T:C Identity +NM_001024847.3:c.44T>A NP_001020018.1:p.Val15Asp NC_000003.12:30606926:T:A p.(Val15Asp) NC_000003.12:30606926:T:A p.(Val15Asp) NC_000003.12:30606926:T:A Identity +NM_001024847.3:c.71T>C NP_001020018.1:p.Ile24Thr NC_000003.12:30606953:T:C p.(Ile24Thr) NC_000003.12:30606953:T:C p.(Ile24Thr) NC_000003.12:30606953:T:C Identity +NM_001407571.1:c.1202C>G NP_001394500.1:p.Pro401Arg NC_000017.11:43094115:G:C p.(Pro401Arg) NC_000017.11:43094115:G:C p.(Pro401Arg) NC_000017.11:43094115:G:C Identity +NM_000059.4:c.6142A>G NP_000050.3:p.Asn2048Asp NC_000013.11:32340496:A:G p.(Asn2048Asp) NC_000013.11:32340496:A:G p.(Asn2048Asp) NC_000013.11:32340496:A:G Identity +NM_000069.3:c.4891G>T NP_000060.2:p.Ala1631Ser NC_000001.11:201043437:C:A p.(Ala1631Ser) NC_000001.11:201043437:C:A p.(Ala1631Ser) NC_000001.11:201043437:C:A Identity +NM_032043.3:c.1914_1915del NP_114432.2:p.Asn638fs NC_000017.11:61780280:GA: p.(Asn638LysfsTer4) NC_000017.11:61780280:GA: p.(Asn638LysfsTer4) NC_000017.11:61780280:GA: Analogous +NM_007129.5:c.1403C>T NP_009060.2:p.Ala468Val NC_000013.11:99985485:C:T p.(Ala468Val) NC_000013.11:99985485:C:T p.(Ala468Val) NC_000013.11:99985485:C:T Identity +NM_003601.4:c.2124G>C NP_003592.3:p.Glu708Asp NC_000004.12:143543923:G:C p.(Glu708Asp) NC_000004.12:143543923:G:C p.(Glu708Asp) NC_000004.12:143543923:G:C Identity +NM_000051.4:c.1837_1839del NP_000042.3:p.Val613del NC_000011.10:108252850:GTG: p.(Val613del) NC_000011.10:108252850:GTG: p.(Val613del) NC_000011.10:108252850:GTG: Identity +NM_001166695.3:c.959C>G NP_001160167.1:p.Thr320Ser NC_000005.10:36679724:C:G p.(Thr320Ser) NC_000005.10:36679724:C:G p.(Thr320Ser) NC_000005.10:36679724:C:G Identity +NM_178452.6:c.304C>T NP_848547.4:p.Leu102Phe NC_000016.10:84150293:C:T p.(Leu102Phe) NC_000016.10:84150293:C:T p.(Leu102Phe) NC_000016.10:84150293:C:T Identity +NM_000256.3:c.2595delinsATA NP_000247.2:p.Met865fs NC_000011.10:47337397:C:TAT p.(Met865IlefsTer15) NC_000011.10:47337397:C:TAT p.(Met865IlefsTer15) NC_000011.10:47337397:C:TAT Analogous +NM_001035.3:c.14449A>G NP_001026.2:p.Met4817Val NC_000001.11:237819050:A:G p.(Met4817Val) NC_000001.11:237819050:A:G p.(Met4817Val) NC_000001.11:237819050:A:G Identity +NM_000335.5:c.4570G>T NP_000326.2:p.Val1524Leu NC_000003.12:38554518:C:A p.(Val1524Leu) NC_000003.12:38554518:C:A p.(Val1524Leu) NC_000003.12:38554518:C:A Identity +NM_017841.4:c.302A>G NP_060311.1:p.Gln101Arg NC_000011.10:61438044:A:G p.(Gln101Arg) NC_000011.10:61438044:A:G p.(Gln101Arg) NC_000011.10:61438044:A:G Identity +NM_000257.4:c.4490C>T NP_000248.2:p.Thr1497Ile NC_000014.9:23417181:G:A p.(Thr1497Ile) NC_000014.9:23417181:G:A p.(Thr1497Ile) NC_000014.9:23417181:G:A Identity +NM_000257.4:c.1665C>G NP_000248.2:p.Asn555Lys NC_000014.9:23427807:G:C p.(Asn555Lys) NC_000014.9:23427807:G:C p.(Asn555Lys) NC_000014.9:23427807:G:C Identity +NM_000053.4:c.3666C>G NP_000044.2:p.Asp1222Glu NC_000013.11:51939083:G:C p.(Asp1222Glu) NC_000013.11:51939083:G:C p.(Asp1222Glu) NC_000013.11:51939083:G:C Identity +NM_001005242.3:c.2392del NP_001005242.2:p.Val798fs NC_000012.12:32792696:C: p.(Val798SerfsTer89) NC_000012.12:32792696:C: p.(Val798SerfsTer89) NC_000012.12:32792696:C: Analogous +NM_001040633.2:c.989T>C NP_001035723.1:p.Val330Ala NC_000007.14:151568827:A:G p.(Val330Ala) NC_000007.14:151568827:A:G p.(Val330Ala) NC_000007.14:151568827:A:G Identity +NM_000321.3:c.2517C>A NP_000312.2:p.Phe839Leu NC_000013.11:48473386:C:A p.(Phe839Leu) NC_000013.11:48473386:C:A p.(Phe839Leu) NC_000013.11:48473386:C:A Identity +NM_000540.3:c.5676GGA[2] NP_000531.2:p.Glu1894del NC_000019.10:38489303:AGGAGGAGGA:AGGAGGA p.(Glu1894del) NC_000019.10:38489304:G:GGAGGA ERR:Parse ERR:Parse Identity +NM_001244808.3:c.501delinsTGTTGTTTT NP_001231737.1:p.Gln167fs NC_000003.12:71052545:C:AAAACAACA p.(Gln167HisfsTer42) NC_000003.12:71052545:C:AAAACAACA p.(Gln167HisfsTer42) NC_000003.12:71052545:C:AAAACAACA Analogous +NM_000179.3:c.3359_3366dup NP_000170.1:p.Glu1123fs NC_000002.12:47803603:AGAGGAGCAG:AGAGGAGCAGAGGAGCAG p.(Glu1123ArgfsTer25) NC_000002.12:47803603:AGAGGAGCAG:AGAGGAGCAGAGGAGCAG p.(Glu1123ArgfsTer25) ERR:SPDI Analogous +NM_020318.3:c.3044G>A NP_064714.2:p.Gly1015Glu NC_000001.11:176699396:G:A p.(Gly1015Glu) NC_000001.11:176699396:G:A p.(Gly1015Glu) NC_000001.11:176699396:G:A Identity +NM_018557.3:c.973C>T NP_061027.2:p.Leu325Phe NC_000002.12:141188460:G:A p.(Leu325Phe) NC_000002.12:141188460:G:A p.(Leu325Phe) NC_000002.12:141188460:G:A Identity +NM_000090.4:c.3515G>A NP_000081.2:p.Arg1172Lys NC_000002.12:189008131:G:A p.(Arg1172Lys) NC_000002.12:189008131:G:A p.(Arg1172Lys) NC_000002.12:189008131:G:A Identity +NM_001943.5:c.1612C>G NP_001934.2:p.Pro538Ala NC_000018.10:31536389:C:G p.(Pro538Ala) NC_000018.10:31536389:C:G p.(Pro538Ala) NC_000018.10:31536389:C:G Identity +NM_004415.4:c.4946G>T NP_004406.2:p.Arg1649Met NC_000006.12:7581135:G:T p.(Arg1649Met) NC_000006.12:7581135:G:T p.(Arg1649Met) NC_000006.12:7581135:G:T Identity +NM_000363.5:c.277C>A NP_000354.4:p.Leu93Met NC_000019.10:55156205:G:T p.(Leu93Met) NC_000019.10:55156205:G:T p.(Leu93Met) NC_000019.10:55156205:G:T Identity +NM_001363520.3:c.1166G>A NP_001350449.1:p.Trp389Ter NC_000004.12:127920819:C:T p.(Trp389Ter) NC_000004.12:127920819:C:T p.(Trp389Ter) NC_000004.12:127920819:C:T Identity +NM_001013415.2:c.1403G>A NP_001013433.1:p.Gly468Glu NC_000004.12:152324281:C:T p.(Gly468Glu) NC_000004.12:152324281:C:T p.(Gly468Glu) NC_000004.12:152324281:C:T Identity +NM_001363725.2:c.487C>A NP_001350654.1:p.Gln163Lys NC_000006.12:157148847:C:A p.(Gln163Lys) NC_000006.12:157148847:C:A p.(Gln163Lys) NC_000006.12:157148847:C:A Identity +NM_005121.3:c.5666G>A NP_005112.2:p.Ser1889Asn NC_000017.11:61955795:C:T p.(Ser1889Asn) NC_000017.11:61955795:C:T p.(Ser1889Asn) NC_000017.11:61955795:C:T Identity +NM_003107.3:c.200T>C NP_003098.1:p.Met67Thr NC_000006.12:21594733:T:C p.(Met67Thr) NC_000006.12:21594733:T:C p.(Met67Thr) NC_000006.12:21594733:T:C Identity +NM_000540.3:c.14432C>T NP_000531.2:p.Ala4811Val NC_000019.10:38580048:C:T p.(Ala4811Val) NC_000019.10:38580048:C:T p.(Ala4811Val) NC_000019.10:38580048:C:T Identity +NM_001184896.1:c.2362G>A NP_001171825.1:p.Asp788Asn NC_000023.11:53985102:C:T p.(Asp788Asn) NC_000023.11:53985102:C:T p.(Asp788Asn) NC_000023.11:53985102:C:T Identity +NM_001270974.2:c.9084G>C NP_001257903.1:p.Gln3028His NC_000016.10:70896044:C:G p.(Gln3028His) NC_000016.10:70896044:C:G p.(Gln3028His) NC_000016.10:70896044:C:G Identity +NM_000138.5:c.7702G>T NP_000129.3:p.Val2568Leu NC_000015.10:48420803:C:A p.(Val2568Leu) NC_000015.10:48420803:C:A p.(Val2568Leu) NC_000015.10:48420803:C:A Identity +NM_000138.5:c.1229C>T NP_000129.3:p.Pro410Leu NC_000015.10:48516280:G:A p.(Pro410Leu) NC_000015.10:48516280:G:A p.(Pro410Leu) NC_000015.10:48516280:G:A Identity +NM_001184772.3:c.3097T>C NP_001171701.1:p.Ser1033Pro NC_000023.11:130015868:T:C p.(Ser1033Pro) NC_000023.11:130015868:T:C p.(Ser1033Pro) NC_000023.11:130015868:T:C Identity +NM_001413913.1:c.185G>C NP_001400842.1:p.Arg62Thr NC_000012.12:11839163:G:C p.(Arg62Thr) NC_000012.12:11839163:G:C p.(Arg62Thr) NC_000012.12:11839163:G:C Identity +NM_033400.3:c.5555G>A NP_207646.2:p.Gly1852Asp NC_000014.9:23524386:C:T p.(Gly1852Asp) NC_000014.9:23524386:C:T p.(Gly1852Asp) NC_000014.9:23524386:C:T Identity +NM_015557.3:c.1711A>G NP_056372.1:p.Lys571Glu NC_000001.11:6146302:T:C p.(Lys571Glu) NC_000001.11:6146302:T:C p.(Lys571Glu) NC_000001.11:6146302:T:C Identity +NM_001321135.2:c.835C>A NP_001308064.1:p.Pro279Thr NC_000015.10:77032390:C:A p.(Pro279Thr) NC_000015.10:77032390:C:A p.(Pro279Thr) NC_000015.10:77032390:C:A Identity +NM_001711.6:c.307T>C NP_001702.1:p.Ser103Pro NC_000023.11:153505305:T:C p.(Ser103Pro) NC_000023.11:153505305:T:C p.(Ser103Pro) NC_000023.11:153505305:T:C Identity +NM_001005407.2:c.883C>G NP_001005407.1:p.Arg295Gly NC_000016.10:1200334:C:G p.(Arg295Gly) NC_000016.10:1200334:C:G p.(Arg295Gly) NC_000016.10:1200334:C:G Identity +NM_000203.5:c.1873T>G NP_000194.2:p.Tyr625Asp NC_000004.12:1004303:T:G p.(Tyr625Asp) NC_000004.12:1004303:T:G p.(Tyr625Asp) NC_000004.12:1004303:T:G Identity +NM_000256.3:c.2122A>G NP_000247.2:p.Ser708Gly NC_000011.10:47339349:T:C p.(Ser708Gly) NC_000011.10:47339349:T:C p.(Ser708Gly) NC_000011.10:47339349:T:C Identity +NM_000256.3:c.2099A>T NP_000247.2:p.Asp700Val NC_000011.10:47339372:T:A p.(Asp700Val) NC_000011.10:47339372:T:A p.(Asp700Val) NC_000011.10:47339372:T:A Identity +NM_001008844.3:c.6779C>G NP_001008844.1:p.Ser2260Cys NC_000006.12:7585837:C:G p.(Ser2260Cys) NC_000006.12:7585837:C:G p.(Ser2260Cys) NC_000006.12:7585837:C:G Identity +NM_000138.5:c.5447C>T NP_000129.3:p.Pro1816Leu NC_000015.10:48452659:G:A p.(Pro1816Leu) NC_000015.10:48452659:G:A p.(Pro1816Leu) NC_000015.10:48452659:G:A Identity +NM_000256.3:c.818G>T NP_000247.2:p.Arg273Leu NC_000011.10:47347859:C:A p.(Arg273Leu) NC_000011.10:47347859:C:A p.(Arg273Leu) NC_000011.10:47347859:C:A Identity +NM_000053.4:c.4261C>G NP_000044.2:p.Gln1421Glu NC_000013.11:51934892:G:C p.(Gln1421Glu) NC_000013.11:51934892:G:C p.(Gln1421Glu) NC_000013.11:51934892:G:C Identity +NM_000277.3:c.552G>T NP_000268.1:p.Lys184Asn NC_000012.12:102855289:C:A p.(Lys184Asn) NC_000012.12:102855289:C:A p.(Lys184Asn) NC_000012.12:102855289:C:A Identity +NM_001292034.3:c.1438del NP_001278963.1:p.Val480fs NC_000006.12:149379349:GGGG:GGG p.(Val480TrpfsTer19) NC_000006.12:149379349:GGGG:GGG p.(Val480TrpfsTer19) NC_000006.12:149379352:G: Analogous +NM_001171937.2:c.64C>T NP_001165408.1:p.Pro22Ser NC_000019.10:49813042:G:A p.(Pro22Ser) NC_000019.10:49813042:G:A p.(Pro22Ser) NC_000019.10:49813042:G:A Identity +NM_000053.4:c.3696_3697insTTAA NP_000044.2:p.Gln1233fs NC_000013.11:51939053::TTAA p.(Gln1233LeufsTer27) NC_000013.11:51939052:G:TTAA p.(Gln1233LeufsTer27) NC_000013.11:51939053:GG:TTAA Analogous +NM_000531.6:c.208A>G NP_000522.3:p.Lys70Glu NC_000023.11:38367420:A:G p.(Lys70Glu) NC_000023.11:38367420:A:G p.(Lys70Glu) NC_000023.11:38367420:A:G Identity +NM_001292034.3:c.676A>G NP_001278963.1:p.Thr226Ala NC_000006.12:149378590:A:G p.(Thr226Ala) NC_000006.12:149378590:A:G p.(Thr226Ala) NC_000006.12:149378590:A:G Identity +NM_001365953.1:c.3286C>T NP_001352882.1:p.His1096Tyr NC_000001.11:10304470:C:T p.(His1096Tyr) NC_000001.11:10304470:C:T p.(His1096Tyr) NC_000001.11:10304470:C:T Identity +NM_001354435.2:c.2264A>G NP_001341364.1:p.Asn755Ser NC_000004.12:99652384:T:C p.(Asn755Ser) NC_000004.12:99652384:T:C p.(Asn755Ser) NC_000004.12:99652384:T:C Identity +NM_001347997.2:c.929G>A NP_001334926.1:p.Arg310Gln NC_000009.12:106924840:G:A p.(Arg310Gln) NC_000009.12:106924840:G:A p.(Arg310Gln) NC_000009.12:106924840:G:A Identity +NM_006012.4:c.343A>T NP_006003.1:p.Ile115Phe NC_000019.10:6362517:A:T p.(Ile115Phe) NC_000019.10:6362517:A:T p.(Ile115Phe) NC_000019.10:6362517:A:T Identity +NM_001168647.3:c.35C>T NP_001162118.1:p.Ser12Phe NC_000023.11:21374931:C:T p.(Ser12Phe) NC_000023.11:21374931:C:T p.(Ser12Phe) NC_000023.11:21374931:C:T Identity +NM_001350748.2:c.538A>G NP_001337677.1:p.Ser180Gly NC_000013.11:101376805:T:C p.(Ser180Gly) NC_000013.11:101376805:T:C p.(Ser180Gly) NC_000013.11:101376805:T:C Identity +NM_173495.3:c.195C>G NP_775766.2:p.Ile65Met NC_000023.11:23335069:C:G p.(Ile65Met) NC_000023.11:23335069:C:G p.(Ile65Met) NC_000023.11:23335069:C:G Identity +NM_001354900.2:c.406_409dup NP_001341829.1:p.Ile137fs NC_000005.10:112780840:CAAA:CAAACAAA p.(Ile137ThrfsTer57) NC_000005.10:112780840:CAAA:CAAACAAA p.(Ile137ThrfsTer57) ERR:SPDI Analogous +NM_001165412.2:c.991_997del NP_001158884.1:p.Val331fs NC_000004.12:102584747:GTCCAGC: p.(Val331PhefsTer98) NC_000004.12:102584747:GTCCAGC: p.(Val331PhefsTer98) NC_000004.12:102584747:GTCCAGC: Analogous +NM_001267578.2:c.1194T>A NP_001254507.1:p.His398Gln NC_000001.11:179917677:T:A p.(His398Gln) NC_000001.11:179917677:T:A p.(His398Gln) NC_000001.11:179917677:T:A Identity +NM_001321309.2:c.4975T>C NP_001308238.1:p.Tyr1659His NC_000003.12:123614346:A:G p.(Tyr1659His) NC_000003.12:123614346:A:G p.(Tyr1659His) NC_000003.12:123614346:A:G Identity +NM_001003406.2:c.2897C>G NP_001003406.1:p.Ala966Gly NC_000022.11:39662064:C:G p.(Ala966Gly) NC_000022.11:39662064:C:G p.(Ala966Gly) NC_000022.11:39662064:C:G Identity +LRG_766t1:c.1643G>A LRG_766p1:p.Ser548Asn NC_000019.10:38455516:G:A ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:Data provider error: ValueError: Transcript LRG_766t1 not found ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_766t1, alt_ac=LRG_766t1, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_766t1 not found +NM_000540.3:c.5315G>A NP_000531.2:p.Arg1772Lys NC_000019.10:38485969:G:A p.(Arg1772Lys) NC_000019.10:38485969:G:A p.(Arg1772Lys) NC_000019.10:38485969:G:A Identity +NM_020928.2:c.1748G>C NP_065979.1:p.Arg583Thr NC_000005.10:61526306:G:C p.(Arg583Thr) NC_000005.10:61526306:G:C p.(Arg583Thr) NC_000005.10:61526306:G:C Identity +NM_001363711.2:c.1813C>G NP_001350640.1:p.Leu605Val NC_000015.10:45106849:G:C p.(Leu605Val) NC_000015.10:45106849:G:C p.(Leu605Val) NC_000015.10:45106849:G:C Identity +NM_001376.5:c.1203G>T NP_001367.2:p.Leu401Phe NC_000014.9:101983259:G:T p.(Leu401Phe) NC_000014.9:101983259:G:T p.(Leu401Phe) NC_000014.9:101983259:G:T Identity +NM_001244008.2:c.733A>C NP_001230937.1:p.Ser245Arg NC_000002.12:240783803:T:G p.(Ser245Arg) NC_000002.12:240783803:T:G p.(Ser245Arg) NC_000002.12:240783803:T:G Identity +NM_001286838.1:c.374T>G NP_001273767.1:p.Leu125Arg NC_000004.12:93110876:T:G p.(Leu125Arg) NC_000004.12:93110876:T:G p.(Leu125Arg) NC_000004.12:93110876:T:G Identity +NM_001135659.3:c.1382G>T NP_001129131.1:p.Ser461Ile NC_000002.12:50620079:C:A p.(Ser461Ile) NC_000002.12:50620079:C:A p.(Ser461Ile) NC_000002.12:50620079:C:A Identity +NM_004621.6:c.83G>T NP_004612.2:p.Ser28Ile NC_000011.10:101583420:C:A p.(Ser28Ile) NC_000011.10:101583420:C:A p.(Ser28Ile) NC_000011.10:101583420:C:A Identity +NM_001146156.2:c.229G>T NP_001139628.1:p.Asp77Tyr NC_000003.12:120002098:C:A p.(Asp77Tyr) NC_000003.12:120002098:C:A p.(Asp77Tyr) NC_000003.12:120002098:C:A Identity +NM_001287491.2:c.1339C>T NP_001274420.1:p.Arg447Trp NC_000002.12:74047255:C:T p.(Arg447Trp) NC_000002.12:74047255:C:T p.(Arg447Trp) NC_000002.12:74047255:C:T Identity +NM_002547.3:c.1324A>T NP_002538.1:p.Ile442Phe NC_000023.11:68119284:T:A p.(Ile442Phe) NC_000023.11:68119284:T:A p.(Ile442Phe) NC_000023.11:68119284:T:A Identity +NM_001168335.2:c.1379_1380del NP_001161807.1:p.Phe460fs NC_000018.10:50932320:TTT:T p.(Phe460TyrfsTer65) NC_000018.10:50932320:TTT:T p.(Phe460TyrfsTer65) NC_000018.10:50932321:TT: Analogous +NM_000536.4:c.10C>T NP_000527.2:p.Gln4Ter NC_000011.10:36594158:G:A p.(Gln4Ter) NC_000011.10:36594158:G:A p.(Gln4Ter) NC_000011.10:36594158:G:A Identity +NM_001205028.3:c.1393G>T NP_001191957.1:p.Gly465Trp NC_000012.12:68314948:C:A p.(Gly465Trp) NC_000012.12:68314948:C:A p.(Gly465Trp) NC_000012.12:68314948:C:A Identity +NM_014611.3:c.1846A>G NP_055426.1:p.Lys616Glu NC_000006.12:89774708:T:C p.(Lys616Glu) NC_000006.12:89774708:T:C p.(Lys616Glu) NC_000006.12:89774708:T:C Identity +NM_001393552.1:c.1351G>A NP_001380481.1:p.Ala451Thr NC_000019.10:4216336:G:A p.(Ala451Thr) NC_000019.10:4216336:G:A p.(Ala451Thr) NC_000019.10:4216336:G:A Identity +NM_005120.3:c.3778G>A NP_005111.2:p.Gly1260Ser NC_000023.11:71129765:G:A p.(Gly1260Ser) NC_000023.11:71129765:G:A p.(Gly1260Ser) NC_000023.11:71129765:G:A Identity +NM_001409.4:c.1338G>C NP_001400.3:p.Glu446Asp NC_000001.11:3509888:C:G p.(Glu446Asp) NC_000001.11:3509888:C:G p.(Glu446Asp) NC_000001.11:3509888:C:G Identity +NM_001165963.4:c.2207C>T NP_001159435.1:p.Pro736Leu NC_000002.12:166041438:G:A p.(Pro736Leu) NC_000002.12:166041438:G:A p.(Pro736Leu) NC_000002.12:166041438:G:A Identity +NM_019066.5:c.577C>A NP_061939.3:p.Pro193Thr NC_000015.10:23647165:G:T p.(Pro193Thr) NC_000015.10:23647165:G:T p.(Pro193Thr) NC_000015.10:23647165:G:T Identity +NM_005027.4:c.1612A>T NP_005018.2:p.Ser538Cys NC_000019.10:18167181:A:T p.(Ser538Cys) NC_000019.10:18167181:A:T p.(Ser538Cys) NC_000019.10:18167181:A:T Identity +NM_020791.4:c.595G>A NP_065842.1:p.Glu199Lys NC_000017.11:29482227:G:A p.(Glu199Lys) NC_000017.11:29482227:G:A p.(Glu199Lys) NC_000017.11:29482227:G:A Identity +NM_004522.3:c.397G>T NP_004513.1:p.Val133Phe NC_000002.12:148941609:G:T p.(Val133Phe) NC_000002.12:148941609:G:T p.(Val133Phe) NC_000002.12:148941609:G:T Identity +NM_001127649.3:c.187C>A NP_001121121.1:p.Gln63Lys NC_000022.11:18078562:C:A p.(Gln63Lys) NC_000022.11:18078562:C:A p.(Gln63Lys) NC_000022.11:18078562:C:A Identity +NM_001253357.2:c.3176C>T NP_001240286.1:p.Ala1059Val NC_000001.11:43321680:C:T p.(Ala1059Val) NC_000001.11:43321680:C:T p.(Ala1059Val) NC_000001.11:43321680:C:T Identity +NM_001277325.2:c.249T>G NP_001264254.1:p.Asp83Glu NC_000016.10:15370062:A:C p.(Asp83Glu) NC_000016.10:15370062:A:C p.(Asp83Glu) NC_000016.10:15370062:A:C Identity +NM_001393797.1:c.1732G>A NP_001380726.1:p.Val578Ile NC_000016.10:48117313:C:T p.(Val578Ile) NC_000016.10:48117313:C:T p.(Val578Ile) NC_000016.10:48117313:C:T Identity +NM_001362770.2:c.524A>C NP_001349699.1:p.Asp175Ala NC_000020.11:492350:T:G p.(Asp175Ala) NC_000020.11:492350:T:G p.(Asp175Ala) NC_000020.11:492350:T:G Identity +NM_001078166.2:c.430G>A NP_001071634.1:p.Ala144Thr NC_000017.11:58005922:C:T p.(Ala144Thr) NC_000017.11:58005922:C:T p.(Ala144Thr) NC_000017.11:58005922:C:T Identity +NM_001184728.3:c.1352_1353insCTCTACA NP_001171657.1:p.Leu452fs NC_000020.11:45425609::CTCTACA p.(Leu452SerfsTer107) NC_000020.11:45425608:G:CTCTACA p.(Leu452SerfsTer107) NC_000020.11:45425609:GG:CTCTACA Analogous +NM_012289.4:c.700C>T NP_036421.2:p.Arg234Trp NC_000019.10:10492201:G:A p.(Arg234Trp) NC_000019.10:10492201:G:A p.(Arg234Trp) NC_000019.10:10492201:G:A Identity +NM_005630.3:c.1016C>T NP_005621.2:p.Ser339Phe NC_000003.12:133948624:G:A p.(Ser339Phe) NC_000003.12:133948624:G:A p.(Ser339Phe) NC_000003.12:133948624:G:A Identity +NM_001162501.2:c.2242G>A NP_001155973.1:p.Gly748Ser NC_000022.11:40266471:G:A p.(Gly748Ser) NC_000022.11:40266471:G:A p.(Gly748Ser) NC_000022.11:40266471:G:A Identity +NM_000203.5:c.723C>A NP_000194.2:p.Cys241Ter NC_000004.12:1001811:C:A p.(Cys241Ter) NC_000004.12:1001811:C:A p.(Cys241Ter) NC_000004.12:1001811:C:A Identity +NM_000222.3:c.1870A>G NP_000213.1:p.Met624Val NC_000004.12:54727917:A:G p.(Met624Val) NC_000004.12:54727917:A:G p.(Met624Val) NC_000004.12:54727917:A:G Identity +NM_001271999.2:c.2860G>T NP_001258928.1:p.Ala954Ser NC_000001.11:62543744:C:A p.(Ala954Ser) NC_000001.11:62543744:C:A p.(Ala954Ser) NC_000001.11:62543744:C:A Identity +NM_001005291.3:c.2049G>C NP_001005291.1:p.Gln683His NC_000017.11:17816544:C:G p.(Gln683His) NC_000017.11:17816544:C:G p.(Gln683His) NC_000017.11:17816544:C:G Identity +NM_001385678.1:c.1637G>A NP_001372607.1:p.Arg546Gln NC_000019.10:4816698:C:T p.(Arg546Gln) NC_000019.10:4816698:C:T p.(Arg546Gln) NC_000019.10:4816698:C:T Identity +NM_001253357.2:c.1121C>T NP_001240286.1:p.Ala374Val NC_000001.11:43309454:C:T p.(Ala374Val) NC_000001.11:43309454:C:T p.(Ala374Val) NC_000001.11:43309454:C:T Identity +NM_001287758.2:c.616C>T NP_001274687.1:p.Pro206Ser NC_000023.11:108205688:G:A p.(Pro206Ser) NC_000023.11:108205688:G:A p.(Pro206Ser) NC_000023.11:108205688:G:A Identity +NM_000245.4:c.2636A>G NP_000236.2:p.Asn879Ser NC_000007.14:116769696:A:G p.(Asn879Ser) NC_000007.14:116769696:A:G p.(Asn879Ser) NC_000007.14:116769696:A:G Identity +NM_001127493.3:c.1993G>A NP_001120965.1:p.Ala665Thr NC_000004.12:113282848:G:A p.(Ala665Thr) NC_000004.12:113282848:G:A p.(Ala665Thr) NC_000004.12:113282848:G:A Identity +NM_001127505.3:c.128G>A NP_001120977.1:p.Trp43Ter NC_000008.11:18075585:C:T p.(Trp43Ter) NC_000008.11:18075585:C:T p.(Trp43Ter) NC_000008.11:18075585:C:T Identity +NM_001363656.2:c.653T>C NP_001350585.1:p.Ile218Thr NC_000019.10:52219751:T:C p.(Ile218Thr) NC_000019.10:52219751:T:C p.(Ile218Thr) NC_000019.10:52219751:T:C Identity +NM_002516.4:c.697A>G NP_002507.1:p.Ser233Gly NC_000019.10:45940644:T:C p.(Ser233Gly) NC_000019.10:45940644:T:C p.(Ser233Gly) NC_000019.10:45940644:T:C Identity +NM_014423.4:c.2898dup NP_055238.1:p.Phe967fs NC_000005.10:132887880:T:TT p.(Phe967IlefsTer30) NC_000005.10:132887880:T:TT p.(Phe967IlefsTer30) ERR:SPDI Analogous +NM_001120.5:c.176C>T NP_001111.3:p.Pro59Leu NC_000004.12:2933658:G:A p.(Pro59Leu) NC_000004.12:2933658:G:A p.(Pro59Leu) NC_000004.12:2933658:G:A Identity +NM_001365693.1:c.4070A>G NP_001352622.1:p.Asp1357Gly NC_000007.14:142060320:A:G p.(Asp1357Gly) NC_000007.14:142060320:A:G p.(Asp1357Gly) NC_000007.14:142060320:A:G Identity +NM_006755.2:c.158C>G NP_006746.1:p.Ala53Gly NC_000011.10:755938:C:G p.(Ala53Gly) NC_000011.10:755938:C:G p.(Ala53Gly) NC_000011.10:755938:C:G Identity +NM_032119.4:c.2897A>G NP_115495.3:p.Glu966Gly NC_000005.10:90644867:A:G p.(Glu966Gly) NC_000005.10:90644867:A:G p.(Glu966Gly) NC_000005.10:90644867:A:G Identity +NM_015260.4:c.1276del NP_056075.1:p.Trp426fs NC_000019.10:16862891:TT:T p.(Trp426GlyfsTer31) NC_000019.10:16862891:TT:T p.(Trp426GlyfsTer31) NC_000019.10:16862892:T: Analogous +NM_001164239.2:c.2254G>A NP_001157711.1:p.Gly752Ser NC_000006.12:30656261:C:T p.(Gly752Ser) NC_000006.12:30656261:C:T p.(Gly752Ser) NC_000006.12:30656261:C:T Identity +NM_001349370.3:c.4828A>C NP_001336299.1:p.Lys1610Gln NC_000003.12:47101512:T:G p.(Lys1610Gln) NC_000003.12:47101512:T:G p.(Lys1610Gln) NC_000003.12:47101512:T:G Identity +NM_001300867.2:c.1130G>A NP_001287796.1:p.Arg377His NC_000001.11:222654681:G:A p.(Arg377His) NC_000001.11:222654681:G:A p.(Arg377His) NC_000001.11:222654681:G:A Identity +NM_001244580.2:c.5770A>G NP_001231509.1:p.Met1924Val NC_000007.14:98955157:A:G p.(Met1924Val) NC_000007.14:98955157:A:G p.(Met1924Val) NC_000007.14:98955157:A:G Identity +NM_001099952.4:c.1603A>G NP_001093422.2:p.Met535Val NC_000003.12:4665185:A:G p.(Met535Val) NC_000003.12:4665185:A:G p.(Met535Val) NC_000003.12:4665185:A:G Identity +NM_021076.4:c.880C>T NP_066554.2:p.Arg294Ter NC_000022.11:29481141:C:T p.(Arg294Ter) NC_000022.11:29481141:C:T p.(Arg294Ter) NC_000022.11:29481141:C:T Identity +NM_001135599.4:c.1301T>A NP_001129071.1:p.Met434Lys NC_000001.11:218441333:T:A p.(Met434Lys) NC_000001.11:218441333:T:A p.(Met434Lys) NC_000001.11:218441333:T:A Identity +NM_001378328.1:c.2087T>C NP_001365257.1:p.Leu696Pro NC_000022.11:46535083:A:G p.(Leu696Pro) NC_000022.11:46535083:A:G p.(Leu696Pro) NC_000022.11:46535083:A:G Identity +NM_000718.4:c.2894G>A NP_000709.1:p.Gly965Glu NC_000009.12:138023636:G:A p.(Gly965Glu) NC_000009.12:138023636:G:A p.(Gly965Glu) NC_000009.12:138023636:G:A Identity +NM_001972.4:c.213C>A NP_001963.1:p.Cys71Ter NC_000019.10:853020:C:A p.(Cys71Ter) NC_000019.10:853020:C:A p.(Cys71Ter) NC_000019.10:853020:C:A Identity +NM_001277126.2:c.2938A>G NP_001264055.1:p.Ser980Gly NC_000019.10:53796021:T:C p.(Ser980Gly) NC_000019.10:53796021:T:C p.(Ser980Gly) NC_000019.10:53796021:T:C Identity +NM_018328.5:c.3282T>G NP_060798.2:p.Asp1094Glu NC_000002.12:148489612:T:G p.(Asp1094Glu) NC_000002.12:148489612:T:G p.(Asp1094Glu) NC_000002.12:148489612:T:G Identity +NM_001081550.2:c.1903A>T NP_001075019.1:p.Ile635Phe NC_000023.11:123638060:T:A p.(Ile635Phe) NC_000023.11:123638060:T:A p.(Ile635Phe) NC_000023.11:123638060:T:A Identity +NM_001148.6:c.9635C>A NP_001139.3:p.Thr3212Lys NC_000004.12:113358252:C:A p.(Thr3212Lys) NC_000004.12:113358252:C:A p.(Thr3212Lys) NC_000004.12:113358252:C:A Identity +NM_006015.6:c.4839_4867del NP_006006.3:p.Met1613fs NC_000001.11:26775064:TGCAGAAGGCAGGTCCCCCAGTACCTGCCT:T p.(Met1613IlefsTer25) NC_000001.11:26775064:TGCAGAAGGCAGGTCCCCCAGTACCTGCCT:T p.(Met1613IlefsTer25) NC_000001.11:26775065:GCAGAAGGCAGGTCCCCCAGTACCTGCCT: Analogous +NM_001261414.3:c.1408G>A NP_001248343.1:p.Gly470Arg NC_000012.12:23543210:C:T p.(Gly470Arg) NC_000012.12:23543210:C:T p.(Gly470Arg) NC_000012.12:23543210:C:T Identity +NM_001080424.2:c.3564C>G NP_001073893.1:p.Ile1188Met NC_000017.11:7849943:C:G p.(Ile1188Met) NC_000017.11:7849943:C:G p.(Ile1188Met) NC_000017.11:7849943:C:G Identity +NM_001378969.1:c.994del NP_001365898.1:p.Ile332fs NC_000001.11:111981732:T: p.(Ile332SerfsTer7) NC_000001.11:111981732:T: p.(Ile332SerfsTer7) NC_000001.11:111981732:T: Analogous +NM_000833.5:c.4387G>C NP_000824.1:p.Asp1463His NC_000016.10:9763156:C:G p.(Asp1463His) NC_000016.10:9763156:C:G p.(Asp1463His) NC_000016.10:9763156:C:G Identity +NM_001204197.3:c.1936G>C NP_001191126.1:p.Gly646Arg NC_000013.11:35667528:G:C p.(Gly646Arg) NC_000013.11:35667528:G:C p.(Gly646Arg) NC_000013.11:35667528:G:C Identity +NM_001378120.1:c.2074G>C NP_001365049.1:p.Gly692Arg NC_000002.12:148470016:G:C p.(Gly692Arg) NC_000002.12:148470016:G:C p.(Gly692Arg) NC_000002.12:148470016:G:C Identity +NM_002660.3:c.590G>T NP_002651.2:p.Arg197Leu NC_000020.11:41162528:G:T p.(Arg197Leu) NC_000020.11:41162528:G:T p.(Arg197Leu) NC_000020.11:41162528:G:T Identity +NM_001195573.1:c.279A>G NP_001182502.1:p.Gly93= NC_000014.9:95132542:T:C p.(Gly93=) NC_000014.9:95132542:T:C p.(Gly93=) NC_000014.9:95132542:T:C Identity +NM_000552.5:c.3961T>A NP_000543.3:p.Tyr1321Asn NC_000012.12:6019456:A:T p.(Tyr1321Asn) NC_000012.12:6019456:A:T p.(Tyr1321Asn) NC_000012.12:6019456:A:T Identity +NM_001693.4:c.1322A>C NP_001684.2:p.Glu441Ala NC_000008.11:20218207:A:C p.(Glu441Ala) NC_000008.11:20218207:A:C p.(Glu441Ala) NC_000008.11:20218207:A:C Identity +NM_001270974.2:c.5004del NP_001257903.1:p.Val1669fs NC_000016.10:70974205:A: p.(Val1669LeufsTer26) NC_000016.10:70974205:A: p.(Val1669LeufsTer26) NC_000016.10:70974205:A: Analogous +NM_182924.4:c.946G>T NP_891554.1:p.Val316Leu NC_000007.14:1445123:C:A p.(Val316Leu) NC_000007.14:1445123:C:A p.(Val316Leu) NC_000007.14:1445123:C:A Identity +NM_001349810.2:c.1397C>T NP_001336739.1:p.Pro466Leu NC_000008.11:17116490:C:T p.(Pro466Leu) NC_000008.11:17116490:C:T p.(Pro466Leu) NC_000008.11:17116490:C:T Identity +NM_003718.5:c.997C>T NP_003709.3:p.Gln333Ter NC_000007.14:39951637:C:T p.(Gln333Ter) NC_000007.14:39951637:C:T p.(Gln333Ter) NC_000007.14:39951637:C:T Identity +NM_001080508.3:c.530C>T NP_001073977.1:p.Ser177Phe NC_000006.12:84760323:G:A p.(Ser177Phe) NC_000006.12:84760323:G:A p.(Ser177Phe) NC_000006.12:84760323:G:A Identity +NM_004459.7:c.2044G>T NP_004450.3:p.Asp682Tyr NC_000017.11:67875734:G:T p.(Asp682Tyr) NC_000017.11:67875734:G:T p.(Asp682Tyr) NC_000017.11:67875734:G:T Identity +NM_016628.5:c.179G>A NP_057712.2:p.Arg60Gln NC_000010.11:28535661:G:A p.(Arg60Gln) NC_000010.11:28535661:G:A p.(Arg60Gln) NC_000010.11:28535661:G:A Identity +NM_001164239.2:c.1526T>G NP_001157711.1:p.Val509Gly NC_000006.12:30660080:A:C p.(Val509Gly) NC_000006.12:30660080:A:C p.(Val509Gly) NC_000006.12:30660080:A:C Identity +NM_003128.3:c.5495T>C NP_003119.2:p.Leu1832Pro NC_000002.12:54649906:T:C p.(Leu1832Pro) NC_000002.12:54649906:T:C p.(Leu1832Pro) NC_000002.12:54649906:T:C Identity +NM_000092.5:c.2867T>C NP_000083.3:p.Ile956Thr NC_000002.12:227052405:A:G p.(Ile956Thr) NC_000002.12:227052405:A:G p.(Ile956Thr) NC_000002.12:227052405:A:G Identity +NM_001413831.1:c.1949C>A NP_001400760.1:p.Pro650His NC_000012.12:15631572:G:T p.(Pro650His) NC_000012.12:15631572:G:T p.(Pro650His) NC_000012.12:15631572:G:T Identity +NM_001411042.1:c.6880G>A NP_001397971.1:p.Asp2294Asn NC_000009.12:137008997:C:T p.(Asp2294Asn) NC_000009.12:137008997:C:T p.(Asp2294Asn) NC_000009.12:137008997:C:T Identity +NM_001040217.3:c.862G>T NP_001035307.2:p.Ala288Ser NC_000001.11:150997664:C:A p.(Ala288Ser) NC_000001.11:150997664:C:A p.(Ala288Ser) NC_000001.11:150997664:C:A Identity +NM_001145845.2:c.674T>C NP_001139317.1:p.Phe225Ser NC_000003.12:78717400:A:G p.(Phe225Ser) NC_000003.12:78717400:A:G p.(Phe225Ser) NC_000003.12:78717400:A:G Identity +NM_000411.8:c.1943T>A NP_000402.3:p.Ile648Asn NC_000021.9:36756607:A:T p.(Ile648Asn) NC_000021.9:36756607:A:T p.(Ile648Asn) NC_000021.9:36756607:A:T Identity +NM_001005407.2:c.3434G>A NP_001005407.1:p.Trp1145Ter NC_000016.10:1209101:G:A p.(Trp1145Ter) NC_000016.10:1209101:G:A p.(Trp1145Ter) NC_000016.10:1209101:G:A Identity +NM_001195139.2:c.2264G>T NP_001182068.2:p.Arg755Leu NC_000016.10:70481040:C:A p.(Arg755Leu) NC_000016.10:70481040:C:A p.(Arg755Leu) NC_000016.10:70481040:C:A Identity +NM_000296.4:c.3772G>A NP_000287.4:p.Ala1258Thr NC_000016.10:2111394:C:T p.(Ala1258Thr) NC_000016.10:2111394:C:T p.(Ala1258Thr) NC_000016.10:2111394:C:T Identity +NM_001170629.2:c.4741G>T NP_001164100.1:p.Val1581Leu NC_000014.9:21400056:C:A p.(Val1581Leu) NC_000014.9:21400056:C:A p.(Val1581Leu) NC_000014.9:21400056:C:A Identity +NM_001099952.4:c.7385G>C NP_001093422.2:p.Gly2462Ala NC_000003.12:4813201:G:C p.(Gly2462Ala) NC_000003.12:4813201:G:C p.(Gly2462Ala) NC_000003.12:4813201:G:C Identity +NM_007118.4:c.9208A>G NP_009049.2:p.Ile3070Val NC_000005.10:14508335:A:G p.(Ile3070Val) NC_000005.10:14508335:A:G p.(Ile3070Val) NC_000005.10:14508335:A:G Identity +NM_001029835.2:c.645C>G NP_001025006.1:p.Cys215Trp NC_000007.14:45068551:C:G p.(Cys215Trp) NC_000007.14:45068551:C:G p.(Cys215Trp) NC_000007.14:45068551:C:G Identity +NM_014641.3:c.1154C>T NP_055456.2:p.Ala385Val NC_000006.12:30712787:G:A p.(Ala385Val) NC_000006.12:30712787:G:A p.(Ala385Val) NC_000006.12:30712787:G:A Identity +NM_001113498.3:c.796G>A NP_001106970.4:p.Glu266Lys NC_000014.9:47131842:C:T p.(Glu266Lys) NC_000014.9:47131842:C:T p.(Glu266Lys) NC_000014.9:47131842:C:T Identity +NM_001282403.2:c.147G>T NP_001269332.1:p.Leu49Phe NC_000007.14:76054909:G:T p.(Leu49Phe) NC_000007.14:76054909:G:T p.(Leu49Phe) NC_000007.14:76054909:G:T Identity +NM_001012333.3:c.25C>T NP_001012333.1:p.Leu9Phe NC_000011.10:46382081:C:T p.(Leu9Phe) NC_000011.10:46382081:C:T p.(Leu9Phe) NC_000011.10:46382081:C:T Identity +NM_014611.3:c.16066C>T NP_055426.1:p.Arg5356Trp NC_000006.12:89650163:G:A p.(Arg5356Trp) NC_000006.12:89650163:G:A p.(Arg5356Trp) NC_000006.12:89650163:G:A Identity +NM_001014811.2:c.1235T>C NP_001014811.1:p.Ile412Thr NC_000011.10:86448151:A:G p.(Ile412Thr) NC_000011.10:86448151:A:G p.(Ile412Thr) NC_000011.10:86448151:A:G Identity +NM_001105077.4:c.2974G>A NP_001098547.3:p.Glu992Lys NC_000003.12:169090057:C:T p.(Glu992Lys) NC_000003.12:169090057:C:T p.(Glu992Lys) NC_000003.12:169090057:C:T Identity +NM_004774.4:c.875C>T NP_004765.2:p.Thr292Ile NC_000017.11:39423797:G:A p.(Thr292Ile) NC_000017.11:39423797:G:A p.(Thr292Ile) NC_000017.11:39423797:G:A Identity +NM_001393769.1:c.5507C>T NP_001380698.1:p.Ser1836Phe NC_000003.12:151390033:C:T p.(Ser1836Phe) NC_000003.12:151390033:C:T p.(Ser1836Phe) NC_000003.12:151390033:C:T Identity +NM_005481.3:c.524C>T NP_005472.2:p.Pro175Leu NC_000019.10:886124:G:A p.(Pro175Leu) NC_000019.10:886124:G:A p.(Pro175Leu) NC_000019.10:886124:G:A Identity +NM_001271938.2:c.6460G>A NP_001258867.1:p.Gly2154Arg NC_000019.10:42368640:G:A p.(Gly2154Arg) NC_000019.10:42368640:G:A p.(Gly2154Arg) NC_000019.10:42368640:G:A Identity +NM_001271938.2:c.7247G>A NP_001258867.1:p.Arg2416His NC_000019.10:42371459:G:A p.(Arg2416His) NC_000019.10:42371459:G:A p.(Arg2416His) NC_000019.10:42371459:G:A Identity +NM_001220482.2:c.1226C>G NP_001207411.1:p.Pro409Arg NC_000015.10:36892359:G:C p.(Pro409Arg) NC_000015.10:36892359:G:C p.(Pro409Arg) NC_000015.10:36892359:G:C Identity +NM_001039958.2:c.951T>G NP_001035047.1:p.Cys317Trp NC_000015.10:89778090:T:G p.(Cys317Trp) NC_000015.10:89778090:T:G p.(Cys317Trp) NC_000015.10:89778090:T:G Identity +NM_000245.4:c.1574C>T NP_000236.2:p.Ser525Phe NC_000007.14:116740897:C:T p.(Ser525Phe) NC_000007.14:116740897:C:T p.(Ser525Phe) NC_000007.14:116740897:C:T Identity +NM_000245.4:c.170T>C NP_000236.2:p.Leu57Pro NC_000007.14:116699253:T:C p.(Leu57Pro) NC_000007.14:116699253:T:C p.(Leu57Pro) NC_000007.14:116699253:T:C Identity +NM_000245.4:c.1771C>G NP_000236.2:p.Arg591Gly NC_000007.14:116755423:C:G p.(Arg591Gly) NC_000007.14:116755423:C:G p.(Arg591Gly) NC_000007.14:116755423:C:G Identity +NM_001317182.2:c.79G>A NP_001304111.1:p.Ala27Thr NC_000012.12:95474257:G:A p.(Ala27Thr) NC_000012.12:95474257:G:A p.(Ala27Thr) NC_000012.12:95474257:G:A Identity +NM_032246.6:c.958C>T NP_115622.2:p.Pro320Ser NC_000015.10:82043911:G:A p.(Pro320Ser) NC_000015.10:82043911:G:A p.(Pro320Ser) NC_000015.10:82043911:G:A Identity +NM_001122731.2:c.2504C>A NP_001116203.1:p.Pro835His NC_000022.11:17865936:G:T p.(Pro835His) NC_000022.11:17865936:G:T p.(Pro835His) NC_000022.11:17865936:G:T Identity +NM_001105077.4:c.2996G>A NP_001098547.3:p.Ser999Asn NC_000003.12:169090035:C:T p.(Ser999Asn) NC_000003.12:169090035:C:T p.(Ser999Asn) NC_000003.12:169090035:C:T Identity +NM_144994.8:c.731A>G NP_659431.5:p.Asp244Gly NC_000002.12:96839817:T:C p.(Asp244Gly) NC_000002.12:96839817:T:C p.(Asp244Gly) NC_000002.12:96839817:T:C Identity +NM_001300804.2:c.73C>T NP_001287733.1:p.Pro25Ser NC_000006.12:41638821:C:T p.(Pro25Ser) NC_000006.12:41638821:C:T p.(Pro25Ser) NC_000006.12:41638821:C:T Identity +NM_032222.3:c.1357G>A NP_115598.2:p.Gly453Ser NC_000007.14:30840759:G:A p.(Gly453Ser) NC_000007.14:30840759:G:A p.(Gly453Ser) NC_000007.14:30840759:G:A Identity +NM_001178118.2:c.431A>G NP_001171589.1:p.Gln144Arg NC_000010.11:87521135:A:G p.(Gln144Arg) NC_000010.11:87521135:A:G p.(Gln144Arg) NC_000010.11:87521135:A:G Identity +NM_004774.4:c.345T>A NP_004765.2:p.Asp115Glu NC_000017.11:39440439:A:T p.(Asp115Glu) NC_000017.11:39440439:A:T p.(Asp115Glu) NC_000017.11:39440439:A:T Identity +NM_005120.3:c.4207A>G NP_005111.2:p.Thr1403Ala NC_000023.11:71132159:A:G p.(Thr1403Ala) NC_000023.11:71132159:A:G p.(Thr1403Ala) NC_000023.11:71132159:A:G Identity +NM_001113498.3:c.2414G>A NP_001106970.4:p.Ser805Asn NC_000014.9:46882045:C:T p.(Ser805Asn) NC_000014.9:46882045:C:T p.(Ser805Asn) NC_000014.9:46882045:C:T Identity +NM_001282403.2:c.484A>C NP_001269332.1:p.Thr162Pro NC_000007.14:76063568:A:C p.(Thr162Pro) NC_000007.14:76063568:A:C p.(Thr162Pro) NC_000007.14:76063568:A:C Identity +NM_014611.3:c.5771A>G NP_055426.1:p.Asn1924Ser NC_000006.12:89723518:T:C p.(Asn1924Ser) NC_000006.12:89723518:T:C p.(Asn1924Ser) NC_000006.12:89723518:T:C Identity +NM_014611.3:c.12058A>T NP_055426.1:p.Arg4020Trp NC_000006.12:89683175:T:A p.(Arg4020Trp) NC_000006.12:89683175:T:A p.(Arg4020Trp) NC_000006.12:89683175:T:A Identity +NM_020947.4:c.1330C>G NP_065998.3:p.Arg444Gly NC_000016.10:84479953:G:C p.(Arg444Gly) NC_000016.10:84479953:G:C p.(Arg444Gly) NC_000016.10:84479953:G:C Identity +NM_001385028.1:c.235C>T NP_001371957.1:p.Arg79Trp NC_000015.10:66119151:G:A p.(Arg79Trp) NC_000015.10:66119151:G:A p.(Arg79Trp) NC_000015.10:66119151:G:A Identity +NM_001409.4:c.3409G>C NP_001400.3:p.Gly1137Arg NC_000001.11:3497304:C:G p.(Gly1137Arg) NC_000001.11:3497304:C:G p.(Gly1137Arg) NC_000001.11:3497304:C:G Identity +NM_001331100.2:c.2290G>C NP_001318029.1:p.Glu764Gln NC_000009.12:38588563:C:G p.(Glu764Gln) NC_000009.12:38588563:C:G p.(Glu764Gln) NC_000009.12:38588563:C:G Identity +NM_001393552.1:c.1537G>A NP_001380481.1:p.Ala513Thr NC_000019.10:4216669:G:A p.(Ala513Thr) NC_000019.10:4216669:G:A p.(Ala513Thr) NC_000019.10:4216669:G:A Identity +NM_005120.3:c.1937A>G NP_005111.2:p.His646Arg NC_000023.11:71124350:A:G p.(His646Arg) NC_000023.11:71124350:A:G p.(His646Arg) NC_000023.11:71124350:A:G Identity +NM_001393769.1:c.4156A>G NP_001380698.1:p.Asn1386Asp NC_000003.12:151377017:A:G p.(Asn1386Asp) NC_000003.12:151377017:A:G p.(Asn1386Asp) NC_000003.12:151377017:A:G Identity +NM_001009813.3:c.148A>G NP_001009813.1:p.Ser50Gly NC_000019.10:47417214:T:C p.(Ser50Gly) NC_000019.10:47417214:T:C p.(Ser50Gly) NC_000019.10:47417214:T:C Identity +NM_005588.3:c.839T>A NP_005579.2:p.Ile280Asn NC_000006.12:46826413:T:A p.(Ile280Asn) NC_000006.12:46826413:T:A p.(Ile280Asn) NC_000006.12:46826413:T:A Identity +NM_001392028.1:c.1051C>G NP_001378957.1:p.Pro351Ala NC_000016.10:48133763:G:C p.(Pro351Ala) NC_000016.10:48133763:G:C p.(Pro351Ala) NC_000016.10:48133763:G:C Identity +NM_001317078.4:c.383G>A NP_001304007.2:p.Arg128His NC_000011.10:57705063:C:T p.(Arg128His) NC_000011.10:57705063:C:T p.(Arg128His) NC_000011.10:57705063:C:T Identity +NM_001409.4:c.4061G>A NP_001400.3:p.Ser1354Asn NC_000001.11:3494438:C:T p.(Ser1354Asn) NC_000001.11:3494438:C:T p.(Ser1354Asn) NC_000001.11:3494438:C:T Identity +NM_001409.4:c.3688G>A NP_001400.3:p.Ala1230Thr NC_000001.11:3496708:C:T p.(Ala1230Thr) NC_000001.11:3496708:C:T p.(Ala1230Thr) NC_000001.11:3496708:C:T Identity +NM_001271938.2:c.5540C>G NP_001258867.1:p.Ala1847Gly NC_000019.10:42360825:C:G p.(Ala1847Gly) NC_000019.10:42360825:C:G p.(Ala1847Gly) NC_000019.10:42360825:C:G Identity +NM_001308171.2:c.421G>A NP_001295100.1:p.Gly141Arg NC_000018.10:32204233:G:A p.(Gly141Arg) NC_000018.10:32204233:G:A p.(Gly141Arg) NC_000018.10:32204233:G:A Identity +NM_000245.4:c.3856_3858delinsAAT NP_000236.2:p.Asp1286Asn NC_000007.14:116795711:GAC:AAT p.(Asp1286Asn) NC_000007.14:116795711:GAC:AAT p.(Asp1286Asn) NC_000007.14:116795711:GAC:AAT Identity +NM_000245.4:c.1635T>G NP_000236.2:p.Cys545Trp NC_000007.14:116740958:T:G p.(Cys545Trp) NC_000007.14:116740958:T:G p.(Cys545Trp) NC_000007.14:116740958:T:G Identity +NM_001322278.2:c.493A>G NP_001309207.1:p.Ile165Val NC_000002.12:172079258:A:G p.(Ile165Val) NC_000002.12:172079258:A:G p.(Ile165Val) NC_000002.12:172079258:A:G Identity +NM_020961.4:c.9C>G NP_066012.1:p.Ser3Arg NC_000004.12:118685542:C:G p.(Ser3Arg) NC_000004.12:118685542:C:G p.(Ser3Arg) NC_000004.12:118685542:C:G Identity +NM_001277061.2:c.836C>T NP_001263990.1:p.Thr279Ile NC_000002.12:227355699:C:T p.(Thr279Ile) NC_000002.12:227355699:C:T p.(Thr279Ile) NC_000002.12:227355699:C:T Identity +NM_001120.5:c.82G>T NP_001111.3:p.Val28Phe NC_000004.12:2933841:C:A p.(Val28Phe) NC_000004.12:2933841:C:A p.(Val28Phe) NC_000004.12:2933841:C:A Identity +NM_001329214.4:c.613G>A NP_001316143.1:p.Glu205Lys NC_000014.9:39247186:G:A p.(Glu205Lys) NC_000014.9:39247186:G:A p.(Glu205Lys) NC_000014.9:39247186:G:A Identity +NM_001329214.4:c.875C>G NP_001316143.1:p.Ser292Cys NC_000014.9:39247448:C:G p.(Ser292Cys) NC_000014.9:39247448:C:G p.(Ser292Cys) NC_000014.9:39247448:C:G Identity +NM_001324062.2:c.1235A>T NP_001310991.1:p.Lys412Ile NC_000001.11:222628454:A:T p.(Lys412Ile) NC_000001.11:222628454:A:T p.(Lys412Ile) NC_000001.11:222628454:A:T Identity +NM_001177519.3:c.552T>G NP_001170990.1:p.His184Gln NC_000006.12:31411297:T:G p.(His184Gln) NC_000006.12:31411297:T:G p.(His184Gln) NC_000006.12:31411297:T:G Identity +NM_001098270.2:c.410C>A NP_001091740.1:p.Pro137His NC_000022.11:39487756:C:A p.(Pro137His) NC_000022.11:39487756:C:A p.(Pro137His) NC_000022.11:39487756:C:A Identity +NM_001204366.2:c.269G>A NP_001191295.1:p.Arg90His NC_000004.12:139703493:G:A p.(Arg90His) NC_000004.12:139703493:G:A p.(Arg90His) NC_000004.12:139703493:G:A Identity +NM_001329214.4:c.550C>T NP_001316143.1:p.Pro184Ser NC_000014.9:39247123:C:T p.(Pro184Ser) NC_000014.9:39247123:C:T p.(Pro184Ser) NC_000014.9:39247123:C:T Identity +NM_001177519.3:c.74C>T NP_001170990.1:p.Pro25Leu NC_000006.12:31410545:C:T p.(Pro25Leu) NC_000006.12:31410545:C:T p.(Pro25Leu) NC_000006.12:31410545:C:T Identity +NM_182924.4:c.2459G>A NP_891554.1:p.Arg820Gln NC_000007.14:1437551:C:T p.(Arg820Gln) NC_000007.14:1437551:C:T p.(Arg820Gln) NC_000007.14:1437551:C:T Identity +NM_015206.3:c.1019T>C NP_056021.1:p.Phe340Ser NC_000015.10:79457165:T:C p.(Phe340Ser) NC_000015.10:79457165:T:C p.(Phe340Ser) NC_000015.10:79457165:T:C Identity +NM_032222.3:c.296C>T NP_115598.2:p.Ser99Leu NC_000007.14:30782088:C:T p.(Ser99Leu) NC_000007.14:30782088:C:T p.(Ser99Leu) NC_000007.14:30782088:C:T Identity +NM_001346105.2:c.1456G>T NP_001333034.1:p.Ala486Ser NC_000019.10:307170:C:A p.(Ala486Ser) NC_000019.10:307170:C:A p.(Ala486Ser) NC_000019.10:307170:C:A Identity +NM_001297598.2:c.619A>T NP_001284527.1:p.Asn207Tyr NC_000005.10:56933389:T:A p.(Asn207Tyr) NC_000005.10:56933389:T:A p.(Asn207Tyr) NC_000005.10:56933389:T:A Identity +NM_015206.3:c.1671C>G NP_056021.1:p.Asp557Glu NC_000015.10:79457817:C:G p.(Asp557Glu) NC_000015.10:79457817:C:G p.(Asp557Glu) NC_000015.10:79457817:C:G Identity +NM_001040450.3:c.1757C>G NP_001035540.1:p.Ala586Gly NC_000015.10:58854500:C:G p.(Ala586Gly) NC_000015.10:58854500:C:G p.(Ala586Gly) NC_000015.10:58854500:C:G Identity +NM_005932.4:c.1403T>C NP_005923.3:p.Val468Ala NC_000013.11:23837691:A:G p.(Val468Ala) NC_000013.11:23837691:A:G p.(Val468Ala) NC_000013.11:23837691:A:G Identity +NM_001145354.2:c.1337G>A NP_001138826.1:p.Cys446Tyr NC_000007.14:131445783:G:A p.(Cys446Tyr) NC_000007.14:131445783:G:A p.(Cys446Tyr) NC_000007.14:131445783:G:A Identity +NM_001145354.2:c.685A>C NP_001138826.1:p.Ser229Arg NC_000007.14:131411355:A:C p.(Ser229Arg) NC_000007.14:131411355:A:C p.(Ser229Arg) NC_000007.14:131411355:A:C Identity +NM_001320417.2:c.365C>T NP_001307346.1:p.Ser122Phe NC_000002.12:99170560:G:A p.(Ser122Phe) NC_000002.12:99170560:G:A p.(Ser122Phe) NC_000002.12:99170560:G:A Identity +NM_001242702.2:c.391A>G NP_001229631.1:p.Thr131Ala NC_000010.11:27735331:T:C p.(Thr131Ala) NC_000010.11:27735331:T:C p.(Thr131Ala) NC_000010.11:27735331:T:C Identity +NM_001303627.2:c.401A>G NP_001290556.1:p.Asp134Gly NC_000012.12:120696315:A:G p.(Asp134Gly) NC_000012.12:120696315:A:G p.(Asp134Gly) NC_000012.12:120696315:A:G Identity +NM_001040108.2:c.3176A>G NP_001035197.1:p.Asn1059Ser NC_000014.9:75046479:T:C p.(Asn1059Ser) NC_000014.9:75046479:T:C p.(Asn1059Ser) NC_000014.9:75046479:T:C Identity +NM_001040108.2:c.1886A>C NP_001035197.1:p.Asn629Thr NC_000014.9:75047769:T:G p.(Asn629Thr) NC_000014.9:75047769:T:G p.(Asn629Thr) NC_000014.9:75047769:T:G Identity +NM_001040108.2:c.1048C>A NP_001035197.1:p.Gln350Lys NC_000014.9:75048607:G:T p.(Gln350Lys) NC_000014.9:75048607:G:T p.(Gln350Lys) NC_000014.9:75048607:G:T Identity +NM_000249.4:c.241A>C NP_000240.1:p.Thr81Pro NC_000003.12:37000987:A:C p.(Thr81Pro) NC_000003.12:37000987:A:C p.(Thr81Pro) NC_000003.12:37000987:A:C Identity +NM_002421.4:c.137A>C NP_002412.1:p.Asn46Thr NC_000011.10:102797468:T:G p.(Asn46Thr) NC_000011.10:102797468:T:G p.(Asn46Thr) NC_000011.10:102797468:T:G Identity +NM_001411000.1:c.176G>A NP_001397929.1:p.Arg59Gln NC_000012.12:131840577:G:A p.(Arg59Gln) NC_000012.12:131840577:G:A p.(Arg59Gln) NC_000012.12:131840577:G:A Identity +NM_005934.4:c.449C>T NP_005925.2:p.Thr150Met NC_000019.10:6227073:G:A p.(Thr150Met) NC_000019.10:6227073:G:A p.(Thr150Met) NC_000019.10:6227073:G:A Identity +NM_001286691.2:c.986A>C NP_001273620.1:p.His329Pro NC_000009.12:20413850:T:G p.(His329Pro) NC_000009.12:20413850:T:G p.(His329Pro) NC_000009.12:20413850:T:G Identity +NM_032951.3:c.1984C>T NP_116569.1:p.Arg662Cys NC_000007.14:73596226:G:A p.(Arg662Cys) NC_000007.14:73596226:G:A p.(Arg662Cys) NC_000007.14:73596226:G:A Identity +NM_002430.3:c.122C>A NP_002421.3:p.Thr41Asn NC_000022.11:27800421:G:T p.(Thr41Asn) NC_000022.11:27800421:G:T p.(Thr41Asn) NC_000022.11:27800421:G:T Identity +NM_173481.4:c.1541C>T NP_775752.1:p.Pro514Leu NC_000019.10:758486:C:T p.(Pro514Leu) NC_000019.10:758486:C:T p.(Pro514Leu) NC_000019.10:758486:C:T Identity +NM_001145966.2:c.3065A>G NP_001139438.1:p.Asp1022Gly NC_000010.11:128107694:T:C p.(Asp1022Gly) NC_000010.11:128107694:T:C p.(Asp1022Gly) NC_000010.11:128107694:T:C Identity +NM_173481.4:c.1475C>T NP_775752.1:p.Pro492Leu NC_000019.10:758420:C:T p.(Pro492Leu) NC_000019.10:758420:C:T p.(Pro492Leu) NC_000019.10:758420:C:T Identity +NM_001145966.2:c.5177C>G NP_001139438.1:p.Pro1726Arg NC_000010.11:128105582:G:C p.(Pro1726Arg) NC_000010.11:128105582:G:C p.(Pro1726Arg) NC_000010.11:128105582:G:C Identity +NM_001195279.2:c.293A>G NP_001182208.1:p.His98Arg NC_000003.12:12541997:T:C p.(His98Arg) NC_000003.12:12541997:T:C p.(His98Arg) NC_000003.12:12541997:T:C Identity +NM_001304441.2:c.34G>A NP_001291370.1:p.Asp12Asn NC_000011.10:102722672:C:T p.(Asp12Asn) NC_000011.10:102722672:C:T p.(Asp12Asn) NC_000011.10:102722672:C:T Identity +NM_024756.3:c.1867T>A NP_079032.2:p.Ser623Thr NC_000010.11:86942916:A:T p.(Ser623Thr) NC_000010.11:86942916:A:T p.(Ser623Thr) NC_000010.11:86942916:A:T Identity +NM_002432.3:c.491C>T NP_002423.1:p.Ala164Val NC_000001.11:158844042:C:T p.(Ala164Val) NC_000001.11:158844042:C:T p.(Ala164Val) NC_000001.11:158844042:C:T Identity +NM_005515.4:c.194C>G NP_005506.3:p.Pro65Arg NC_000007.14:157010156:G:C p.(Pro65Arg) NC_000007.14:157010156:G:C p.(Pro65Arg) NC_000007.14:157010156:G:C Identity +NM_001272011.2:c.824C>T NP_001258940.1:p.Pro275Leu NC_000014.9:102231773:G:A p.(Pro275Leu) NC_000014.9:102231773:G:A p.(Pro275Leu) NC_000014.9:102231773:G:A Identity +NM_001142501.2:c.455G>A NP_001135973.2:p.Arg152His NC_000003.12:49910556:C:T p.(Arg152His) NC_000003.12:49910556:C:T p.(Arg152His) NC_000003.12:49910556:C:T Identity +NM_001256053.2:c.1531G>A NP_001242982.1:p.Gly511Arg NC_000010.11:27060377:C:T p.(Gly511Arg) NC_000010.11:27060377:C:T p.(Gly511Arg) NC_000010.11:27060377:C:T Identity +NM_001040108.2:c.1532C>T NP_001035197.1:p.Pro511Leu NC_000014.9:75048123:G:A p.(Pro511Leu) NC_000014.9:75048123:G:A p.(Pro511Leu) NC_000014.9:75048123:G:A Identity +NM_058165.3:c.609C>A NP_477513.2:p.Phe203Leu NC_000002.12:222694491:C:A p.(Phe203Leu) NC_000002.12:222694491:C:A p.(Phe203Leu) NC_000002.12:222694491:C:A Identity +NM_001040108.2:c.1397C>T NP_001035197.1:p.Ser466Leu NC_000014.9:75048258:G:A p.(Ser466Leu) NC_000014.9:75048258:G:A p.(Ser466Leu) NC_000014.9:75048258:G:A Identity +NM_005372.1:c.53C>T NP_005363.1:p.Ser18Leu NC_000008.11:56113929:G:A p.(Ser18Leu) NC_000008.11:56113929:G:A p.(Ser18Leu) NC_000008.11:56113929:G:A Identity +NM_001261406.2:c.2525A>C NP_001248335.1:p.Glu842Ala NC_000009.12:13183541:T:G p.(Glu842Ala) NC_000009.12:13183541:T:G p.(Glu842Ala) NC_000009.12:13183541:T:G Identity +NM_005791.3:c.489C>G NP_005782.1:p.Ser163Arg NC_000002.12:71133296:C:G p.(Ser163Arg) NC_000002.12:71133296:C:G p.(Ser163Arg) NC_000002.12:71133296:C:G Identity +NM_022782.4:c.3533G>A NP_073619.3:p.Arg1178His NC_000012.12:123156825:C:T p.(Arg1178His) NC_000012.12:123156825:C:T p.(Arg1178His) NC_000012.12:123156825:C:T Identity +NM_022782.4:c.3347G>A NP_073619.3:p.Arg1116Gln NC_000012.12:123161169:C:T p.(Arg1116Gln) NC_000012.12:123161169:C:T p.(Arg1116Gln) NC_000012.12:123161169:C:T Identity +NM_001330233.2:c.238T>A NP_001317162.1:p.Tyr80Asn NC_000017.11:43831302:A:T p.(Tyr80Asn) NC_000017.11:43831302:A:T p.(Tyr80Asn) NC_000017.11:43831302:A:T Identity +NM_001242904.2:c.800A>G NP_001229833.1:p.Asn267Ser NC_000018.10:11885694:T:C p.(Asn267Ser) NC_000018.10:11885694:T:C p.(Asn267Ser) NC_000018.10:11885694:T:C Identity +NM_000392.5:c.1000A>G NP_000383.2:p.Ile334Val NC_000010.11:99799338:A:G p.(Ile334Val) NC_000010.11:99799338:A:G p.(Ile334Val) NC_000010.11:99799338:A:G Identity +NM_001364716.4:c.2119C>T NP_001351645.2:p.Arg707Trp NC_000017.11:17158720:C:T p.(Arg707Trp) NC_000017.11:17158720:C:T p.(Arg707Trp) NC_000017.11:17158720:C:T Identity +NM_001346542.2:c.92G>A NP_001333471.1:p.Gly31Glu NC_000006.12:84055409:G:A p.(Gly31Glu) NC_000006.12:84055409:G:A p.(Gly31Glu) NC_000006.12:84055409:G:A Identity +NM_003786.4:c.3816G>C NP_003777.2:p.Trp1272Cys NC_000017.11:50683617:G:C p.(Trp1272Cys) NC_000017.11:50683617:G:C p.(Trp1272Cys) NC_000017.11:50683617:G:C Identity +NM_001330347.2:c.1261C>A NP_001317276.1:p.Pro421Thr NC_000011.10:94461000:G:T p.(Pro421Thr) NC_000011.10:94461000:G:T p.(Pro421Thr) NC_000011.10:94461000:G:T Identity +NM_001194999.2:c.310A>G NP_001181928.1:p.Arg104Gly NC_000001.11:181049293:A:G p.(Arg104Gly) NC_000001.11:181049293:A:G p.(Arg104Gly) NC_000001.11:181049293:A:G Identity +NM_001256053.2:c.2128C>T NP_001242982.1:p.Leu710Phe NC_000010.11:27043455:G:A p.(Leu710Phe) NC_000010.11:27043455:G:A p.(Leu710Phe) NC_000010.11:27043455:G:A Identity +NM_173489.5:c.3191A>G NP_775760.3:p.Glu1064Gly NC_000005.10:41010023:T:C p.(Glu1064Gly) NC_000005.10:41010023:T:C p.(Glu1064Gly) NC_000005.10:41010023:T:C Identity +NM_014763.4:c.863C>T NP_055578.2:p.Ala288Val NC_000002.12:75655268:C:T p.(Ala288Val) NC_000002.12:75655268:C:T p.(Ala288Val) NC_000002.12:75655268:C:T Identity +NM_024540.4:c.278C>T NP_078816.2:p.Thr93Ile NC_000001.11:156738343:G:A p.(Thr93Ile) NC_000001.11:156738343:G:A p.(Thr93Ile) NC_000001.11:156738343:G:A Identity +NM_032479.4:c.28G>T NP_115868.1:p.Val10Leu NC_000005.10:1798907:C:A p.(Val10Leu) NC_000005.10:1798907:C:A p.(Val10Leu) NC_000005.10:1798907:C:A Identity +NM_001244766.2:c.70A>G NP_001231695.1:p.Ile24Val NC_000004.12:70958913:A:G p.(Ile24Val) NC_000004.12:70958913:A:G p.(Ile24Val) NC_000004.12:70958913:A:G Identity +NM_032355.4:c.356A>G NP_115731.3:p.Asp119Gly NC_000003.12:49911782:T:C p.(Asp119Gly) NC_000003.12:49911782:T:C p.(Asp119Gly) NC_000003.12:49911782:T:C Identity +NM_173489.5:c.1037C>T NP_775760.3:p.Pro346Leu NC_000005.10:41054836:G:A p.(Pro346Leu) NC_000005.10:41054836:G:A p.(Pro346Leu) NC_000005.10:41054836:G:A Identity +NM_173489.5:c.2551A>G NP_775760.3:p.Thr851Ala NC_000005.10:41018908:T:C p.(Thr851Ala) NC_000005.10:41018908:T:C p.(Thr851Ala) NC_000005.10:41018908:T:C Identity +NM_017840.4:c.715G>A NP_060310.1:p.Gly239Arg NC_000011.10:59806387:C:T p.(Gly239Arg) NC_000011.10:59806387:C:T p.(Gly239Arg) NC_000011.10:59806387:C:T Identity +NM_001098835.2:c.476T>A NP_001092305.1:p.Met159Lys NC_000011.10:60773461:T:A p.(Met159Lys) NC_000011.10:60773461:T:A p.(Met159Lys) NC_000011.10:60773461:T:A Identity +NM_001247999.2:c.364T>G NP_001234928.1:p.Phe122Val NC_000011.10:60179832:A:C p.(Phe122Val) NC_000011.10:60179832:A:C p.(Phe122Val) NC_000011.10:60179832:A:C Identity +NM_002439.5:c.2179C>G NP_002430.3:p.Arg727Gly NC_000005.10:80768928:C:G p.(Arg727Gly) NC_000005.10:80768928:C:G p.(Arg727Gly) NC_000005.10:80768928:C:G Identity +NM_147191.1:c.607A>G NP_671724.1:p.Arg203Gly NC_000010.11:125773920:T:C p.(Arg203Gly) NC_000010.11:125773920:T:C p.(Arg203Gly) NC_000010.11:125773920:T:C Identity +NM_001371403.1:c.1496G>A NP_001358332.1:p.Ser499Asn NC_000004.12:89935175:G:A p.(Ser499Asn) NC_000004.12:89935175:G:A p.(Ser499Asn) NC_000004.12:89935175:G:A Identity +NM_001261406.2:c.2379A>T NP_001248335.1:p.Glu793Asp NC_000009.12:13186371:T:A p.(Glu793Asp) NC_000009.12:13186371:T:A p.(Glu793Asp) NC_000009.12:13186371:T:A Identity +NM_001278370.2:c.1699A>G NP_001265299.1:p.Asn567Asp NC_000017.11:43877901:T:C p.(Asn567Asp) NC_000017.11:43877901:T:C p.(Asn567Asp) NC_000017.11:43877901:T:C Identity +NM_004927.4:c.124G>C NP_004918.1:p.Val42Leu NC_000011.10:65124546:G:C p.(Val42Leu) NC_000011.10:65124546:G:C p.(Val42Leu) NC_000011.10:65124546:G:C Identity +NM_016640.4:c.529C>G NP_057724.2:p.Leu177Val NC_000005.10:44809490:C:G p.(Leu177Val) NC_000005.10:44809490:C:G p.(Leu177Val) NC_000005.10:44809490:C:G Identity +NM_001300900.2:c.544A>G NP_001287829.1:p.Ile182Val NC_000016.10:1772354:T:C p.(Ile182Val) NC_000016.10:1772354:T:C p.(Ile182Val) NC_000016.10:1772354:T:C Identity +NM_145279.5:c.171C>A NP_660322.3:p.Asp57Glu NC_000001.11:46613150:G:T p.(Asp57Glu) NC_000001.11:46613150:G:T p.(Asp57Glu) NC_000001.11:46613150:G:T Identity +NM_001363685.2:c.85C>A NP_001350614.1:p.Gln29Lys NC_000012.12:121669398:G:T p.(Gln29Lys) NC_000012.12:121669398:G:T p.(Gln29Lys) NC_000012.12:121669398:G:T Identity +NM_001308027.2:c.1069C>T NP_001294956.1:p.Arg357Trp NC_000011.10:124767786:G:A p.(Arg357Trp) NC_000011.10:124767786:G:A p.(Arg357Trp) NC_000011.10:124767786:G:A Identity +NM_001303615.2:c.752A>G NP_001290544.1:p.Lys251Arg NC_000011.10:19055650:T:C p.(Lys251Arg) NC_000011.10:19055650:T:C p.(Lys251Arg) NC_000011.10:19055650:T:C Identity +NM_001370464.1:c.10A>G NP_001357393.1:p.Thr4Ala NC_000011.10:18137211:A:G p.(Thr4Ala) NC_000011.10:18137211:A:G p.(Thr4Ala) NC_000011.10:18137211:A:G Identity +NM_001411061.1:c.1876G>T NP_001397990.1:p.Gly626Cys NC_000014.9:105469906:G:T p.(Gly626Cys) NC_000014.9:105469906:G:T p.(Gly626Cys) NC_000014.9:105469906:G:T Identity +NM_022045.5:c.2183G>A NP_071328.2:p.Arg728Gln NC_000008.11:120516127:G:A p.(Arg728Gln) NC_000008.11:120516127:G:A p.(Arg728Gln) NC_000008.11:120516127:G:A Identity +NM_052997.3:c.415G>A NP_443723.3:p.Gly139Ser NC_000010.11:37130282:G:A p.(Gly139Ser) NC_000010.11:37130282:G:A p.(Gly139Ser) NC_000010.11:37130282:G:A Identity +NM_000179.3:c.79G>A NP_000170.1:p.Ala27Thr NC_000002.12:47783311:G:A p.(Ala27Thr) NC_000002.12:47783311:G:A p.(Ala27Thr) NC_000002.12:47783311:G:A Identity +NM_001164104.2:c.806G>A NP_001157576.1:p.Gly269Asp NC_000022.11:50113709:G:A p.(Gly269Asp) NC_000022.11:50113709:G:A p.(Gly269Asp) NC_000022.11:50113709:G:A Identity +NM_005791.3:c.721G>T NP_005782.1:p.Asp241Tyr NC_000002.12:71133528:G:T p.(Asp241Tyr) NC_000002.12:71133528:G:T p.(Asp241Tyr) NC_000002.12:71133528:G:T Identity +NM_022782.4:c.2078A>G NP_073619.3:p.Gln693Arg NC_000012.12:123194548:T:C p.(Gln693Arg) NC_000012.12:123194548:T:C p.(Gln693Arg) NC_000012.12:123194548:T:C Identity +NM_033066.3:c.1531G>C NP_149055.2:p.Val511Leu NC_000002.12:201649628:C:G p.(Val511Leu) NC_000002.12:201649628:C:G p.(Val511Leu) NC_000002.12:201649628:C:G Identity +NM_001321284.2:c.19C>A NP_001308213.1:p.Leu7Met NC_000001.11:228108241:G:T p.(Leu7Met) NC_000001.11:228108241:G:T p.(Leu7Met) NC_000001.11:228108241:G:T Identity +NM_016070.4:c.109G>A NP_057154.2:p.Ala37Thr NC_000017.11:57849345:C:T p.(Ala37Thr) NC_000017.11:57849345:C:T p.(Ala37Thr) NC_000017.11:57849345:C:T Identity +NM_001098835.2:c.496C>T NP_001092305.1:p.Arg166Trp NC_000011.10:60773481:C:T p.(Arg166Trp) NC_000011.10:60773481:C:T p.(Arg166Trp) NC_000011.10:60773481:C:T Identity +NM_001363744.1:c.943G>A NP_001350673.1:p.Gly315Ser NC_000008.11:16155072:C:T p.(Gly315Ser) NC_000008.11:16155072:C:T p.(Gly315Ser) NC_000008.11:16155072:C:T Identity +NM_001349853.2:c.688C>G NP_001336782.1:p.Gln230Glu NC_000022.11:37831962:G:C p.(Gln230Glu) NC_000022.11:37831962:G:C p.(Gln230Glu) NC_000022.11:37831962:G:C Identity +NM_001378205.1:c.3602C>T NP_001365134.1:p.Ser1201Phe NC_000018.10:8813018:C:T p.(Ser1201Phe) NC_000018.10:8813018:C:T p.(Ser1201Phe) NC_000018.10:8813018:C:T Identity +NM_001040105.2:c.2515A>G NP_001035194.1:p.Thr839Ala NC_000007.14:101033930:A:G p.(Thr839Ala) NC_000007.14:101033930:A:G p.(Thr839Ala) NC_000007.14:101033930:A:G Identity +NM_001040105.2:c.10519A>C NP_001035194.1:p.Met3507Leu NC_000007.14:101041934:A:C p.(Met3507Leu) NC_000007.14:101041934:A:C p.(Met3507Leu) NC_000007.14:101041934:A:C Identity +NM_001040446.3:c.1589C>T NP_001035536.1:p.Pro530Leu NC_000005.10:32233857:G:A p.(Pro530Leu) NC_000005.10:32233857:G:A p.(Pro530Leu) NC_000005.10:32233857:G:A Identity +NM_001040446.3:c.2144C>G NP_001035536.1:p.Ser715Cys NC_000005.10:32229877:G:C p.(Ser715Cys) NC_000005.10:32229877:G:C p.(Ser715Cys) NC_000005.10:32229877:G:C Identity +NM_021090.4:c.2819A>G NP_066576.1:p.Glu940Gly NC_000022.11:30020477:A:G p.(Glu940Gly) NC_000022.11:30020477:A:G p.(Glu940Gly) NC_000022.11:30020477:A:G Identity +NM_015458.4:c.1492T>G NP_056273.2:p.Phe498Val NC_000008.11:11322629:T:G p.(Phe498Val) NC_000008.11:11322629:T:G p.(Phe498Val) NC_000008.11:11322629:T:G Identity +NM_001114184.3:c.712G>A NP_001107656.1:p.Asp238Asn NC_000006.12:152992949:C:T p.(Asp238Asn) NC_000006.12:152992949:C:T p.(Asp238Asn) NC_000006.12:152992949:C:T Identity +NM_001282971.2:c.1944C>A NP_001269900.1:p.Ser648Arg NC_000008.11:124553327:G:T p.(Ser648Arg) NC_000008.11:124553327:G:T p.(Ser648Arg) NC_000008.11:124553327:G:T Identity +NM_001167741.2:c.635T>C NP_001161213.1:p.Leu212Ser NC_000005.10:79985580:A:G p.(Leu212Ser) NC_000005.10:79985580:A:G p.(Leu212Ser) NC_000005.10:79985580:A:G Identity +NM_001040105.2:c.7915C>A NP_001035194.1:p.Leu2639Ile NC_000007.14:101039330:C:A p.(Leu2639Ile) NC_000007.14:101039330:C:A p.(Leu2639Ile) NC_000007.14:101039330:C:A Identity +NM_001247999.2:c.142A>C NP_001234928.1:p.Asn48His NC_000011.10:60181669:T:G p.(Asn48His) NC_000011.10:60181669:T:G p.(Asn48His) NC_000011.10:60181669:T:G Identity +NM_001308027.2:c.1652T>C NP_001294956.1:p.Ile551Thr NC_000011.10:124767203:A:G p.(Ile551Thr) NC_000011.10:124767203:A:G p.(Ile551Thr) NC_000011.10:124767203:A:G Identity +NM_001164440.2:c.742G>A NP_001157912.1:p.Glu248Lys NC_000005.10:10649369:G:A p.(Glu248Lys) NC_000005.10:10649369:G:A p.(Glu248Lys) NC_000005.10:10649369:G:A Identity +NM_001364716.4:c.700A>C NP_001351645.2:p.Ser234Arg NC_000017.11:17136413:A:C p.(Ser234Arg) NC_000017.11:17136413:A:C p.(Ser234Arg) NC_000017.11:17136413:A:C Identity +NM_002458.3:c.3817G>A NP_002449.2:p.Val1273Ile NC_000011.10:1240221:G:A p.(Val1273Ile) NC_000011.10:1240221:G:A p.(Val1273Ile) NC_000011.10:1240221:G:A Identity +NM_002458.3:c.11596C>A NP_002449.2:p.Pro3866Thr NC_000011.10:1248475:C:A p.(Pro3866Thr) NC_000011.10:1248475:C:A p.(Pro3866Thr) NC_000011.10:1248475:C:A Identity +NM_001350283.2:c.1042G>A NP_001337212.1:p.Gly348Ser NC_000011.10:65863880:G:A p.(Gly348Ser) NC_000011.10:65863880:G:A p.(Gly348Ser) NC_000011.10:65863880:G:A Identity +NM_015419.4:c.2663T>A NP_056234.2:p.Val888Asp NC_000023.11:3323021:A:T p.(Val888Asp) NC_000023.11:3323021:A:T p.(Val888Asp) NC_000023.11:3323021:A:T Identity +NM_002458.3:c.12014C>T NP_002449.2:p.Pro4005Leu NC_000011.10:1248893:C:T p.(Pro4005Leu) NC_000011.10:1248893:C:T p.(Pro4005Leu) NC_000011.10:1248893:C:T Identity +NM_002458.3:c.10477C>T NP_002449.2:p.His3493Tyr NC_000011.10:1247356:C:T p.(His3493Tyr) NC_000011.10:1247356:C:T p.(His3493Tyr) NC_000011.10:1247356:C:T Identity +NM_002463.2:c.256G>A NP_002454.1:p.Glu86Lys NC_000021.9:41377794:G:A p.(Glu86Lys) NC_000021.9:41377794:G:A p.(Glu86Lys) NC_000021.9:41377794:G:A Identity +NM_015419.4:c.3098A>T NP_056234.2:p.His1033Leu NC_000023.11:3322586:T:A p.(His1033Leu) NC_000023.11:3322586:T:A p.(His1033Leu) NC_000023.11:3322586:T:A Identity +NM_001080416.4:c.155A>G NP_001073885.1:p.Gln52Arg NC_000008.11:66601740:T:C p.(Gln52Arg) NC_000008.11:66601740:T:C p.(Gln52Arg) NC_000008.11:66601740:T:C Identity +NM_004533.4:c.974C>T NP_004524.3:p.Ala325Val NC_000019.10:50443564:C:T p.(Ala325Val) NC_000019.10:50443564:C:T p.(Ala325Val) NC_000019.10:50443564:C:T Identity +NM_000256.3:c.2214del NP_000247.2:p.Glu739fs NC_000011.10:47338613:G: p.(Glu739ArgfsTer15) NC_000011.10:47338613:G: p.(Glu739ArgfsTer15) NC_000011.10:47338613:G: Analogous +NM_000256.3:c.3347T>G NP_000247.2:p.Leu1116Trp NC_000011.10:47332956:A:C p.(Leu1116Trp) NC_000011.10:47332956:A:C p.(Leu1116Trp) NC_000011.10:47332956:A:C Identity +NM_001378092.1:c.2306G>A NP_001365021.1:p.Cys769Tyr NC_000011.10:70167306:G:A p.(Cys769Tyr) NC_000011.10:70167306:G:A p.(Cys769Tyr) NC_000011.10:70167306:G:A Identity +NM_001010985.3:c.968C>T NP_001010985.2:p.Pro323Leu NC_000001.11:109295196:G:A p.(Pro323Leu) NC_000001.11:109295196:G:A p.(Pro323Leu) NC_000001.11:109295196:G:A Identity +NM_015057.5:c.3193A>G NP_055872.4:p.Ile1065Val NC_000013.11:77212024:T:C p.(Ile1065Val) NC_000013.11:77212024:T:C p.(Ile1065Val) NC_000013.11:77212024:T:C Identity +NM_002440.4:c.403T>A NP_002431.2:p.Trp135Arg NC_000001.11:75803888:T:A p.(Trp135Arg) NC_000001.11:75803888:T:A p.(Trp135Arg) NC_000001.11:75803888:T:A Identity +NM_000179.3:c.2684C>T NP_000170.1:p.Thr895Ile NC_000002.12:47800666:C:T p.(Thr895Ile) NC_000002.12:47800666:C:T p.(Thr895Ile) NC_000002.12:47800666:C:T Identity +NM_003802.3:c.4199G>A NP_003793.2:p.Arg1400Lys NC_000017.11:10312739:C:T p.(Arg1400Lys) NC_000017.11:10312739:C:T p.(Arg1400Lys) NC_000017.11:10312739:C:T Identity +NM_001077186.2:c.3701C>T NP_001070654.1:p.Ala1234Val NC_000019.10:50276875:C:T p.(Ala1234Val) NC_000019.10:50276875:C:T p.(Ala1234Val) NC_000019.10:50276875:C:T Identity +NM_181514.2:c.540C>A NP_852615.1:p.Phe180Leu NC_000011.10:68892902:G:T p.(Phe180Leu) NC_000011.10:68892902:G:T p.(Phe180Leu) NC_000011.10:68892902:G:T Identity +NM_032478.4:c.757C>T NP_115867.2:p.Pro253Ser NC_000017.11:75899627:G:A p.(Pro253Ser) NC_000017.11:75899627:G:A p.(Pro253Ser) NC_000017.11:75899627:G:A Identity +NM_053050.5:c.233G>A NP_444278.1:p.Gly78Asp NC_000002.12:74472224:C:T p.(Gly78Asp) NC_000002.12:74472224:C:T p.(Gly78Asp) NC_000002.12:74472224:C:T Identity +NM_001321284.2:c.268C>T NP_001308213.1:p.Arg90Trp NC_000001.11:228106878:G:A p.(Arg90Trp) NC_000001.11:228106878:G:A p.(Arg90Trp) NC_000001.11:228106878:G:A Identity +NM_001300733.2:c.394G>T NP_001287662.1:p.Ala132Ser NC_000001.11:151762416:C:A p.(Ala132Ser) NC_000001.11:151762416:C:A p.(Ala132Ser) NC_000001.11:151762416:C:A Identity +NM_001193343.2:c.155G>A NP_001180272.1:p.Arg52His NC_000006.12:43678614:C:T p.(Arg52His) NC_000006.12:43678614:C:T p.(Arg52His) NC_000006.12:43678614:C:T Identity +NM_206893.4:c.663G>T NP_996776.2:p.Glu221Asp NC_000011.10:60798454:G:T p.(Glu221Asp) NC_000011.10:60798454:G:T p.(Glu221Asp) NC_000011.10:60798454:G:T Identity +NM_021201.5:c.281G>T NP_067024.1:p.Cys94Phe NC_000011.10:60385220:G:T p.(Cys94Phe) NC_000011.10:60385220:G:T p.(Cys94Phe) NC_000011.10:60385220:G:T Identity +NM_001280799.2:c.1447G>A NP_001267728.1:p.Ala483Thr NC_000001.11:145873051:C:T p.(Ala483Thr) NC_000001.11:145873051:C:T p.(Ala483Thr) NC_000001.11:145873051:C:T Identity +NM_001280799.2:c.2240A>C NP_001267728.1:p.Lys747Thr NC_000001.11:145872258:T:G p.(Lys747Thr) NC_000001.11:145872258:T:G p.(Lys747Thr) NC_000001.11:145872258:T:G Identity +NM_014981.3:c.1904C>T NP_055796.2:p.Ser635Leu NC_000003.12:108460327:G:A p.(Ser635Leu) NC_000003.12:108460327:G:A p.(Ser635Leu) NC_000003.12:108460327:G:A Identity +NM_001044264.3:c.184A>G NP_001037729.1:p.Lys62Glu NC_000009.12:35753714:T:C p.(Lys62Glu) NC_000009.12:35753714:T:C p.(Lys62Glu) NC_000009.12:35753714:T:C Identity +NM_001203258.2:c.1123G>A NP_001190187.1:p.Gly375Ser NC_000014.9:105464077:G:A p.(Gly375Ser) NC_000014.9:105464077:G:A p.(Gly375Ser) NC_000014.9:105464077:G:A Identity +NM_002439.5:c.118T>C NP_002430.3:p.Ser40Pro NC_000005.10:80654844:T:C p.(Ser40Pro) NC_000005.10:80654844:T:C p.(Ser40Pro) NC_000005.10:80654844:T:C Identity +NM_001195144.2:c.934A>G NP_001182073.1:p.Met312Val NC_000002.12:197110816:T:C p.(Met312Val) NC_000002.12:197110816:T:C p.(Met312Val) NC_000002.12:197110816:T:C Identity +NM_001395441.1:c.99G>C NP_001382370.1:p.Gln33His NC_000004.12:678752:G:C p.(Gln33His) NC_000004.12:678752:G:C p.(Gln33His) NC_000004.12:678752:G:C Identity +NM_001378205.1:c.1229C>A NP_001365134.1:p.Thr410Lys NC_000018.10:8718598:C:A p.(Thr410Lys) NC_000018.10:8718598:C:A p.(Thr410Lys) NC_000018.10:8718598:C:A Identity +NM_001242767.2:c.2798G>A NP_001229696.1:p.Ser933Asn NC_000006.12:151037064:G:A p.(Ser933Asn) NC_000006.12:151037064:G:A p.(Ser933Asn) NC_000006.12:151037064:G:A Identity +NM_001025356.3:c.2077G>T NP_001020527.2:p.Val693Leu NC_000012.12:45416763:G:T p.(Val693Leu) NC_000012.12:45416763:G:T p.(Val693Leu) NC_000012.12:45416763:G:T Identity +NM_020884.7:c.2905G>A NP_065935.4:p.Ala969Thr NC_000020.11:34995539:G:A p.(Ala969Thr) NC_000020.11:34995539:G:A p.(Ala969Thr) NC_000020.11:34995539:G:A Identity +NM_002472.3:c.3272G>A NP_002463.2:p.Ser1091Asn NC_000017.11:10400941:C:T p.(Ser1091Asn) NC_000017.11:10400941:C:T p.(Ser1091Asn) NC_000017.11:10400941:C:T Identity +NM_013262.4:c.1291G>A NP_037394.2:p.Val431Ile NC_000006.12:16146703:G:A p.(Val431Ile) NC_000006.12:16146703:G:A p.(Val431Ile) NC_000006.12:16146703:G:A Identity +NM_001321309.2:c.3245T>G NP_001308238.1:p.Phe1082Cys NC_000003.12:123666276:A:C p.(Phe1082Cys) NC_000003.12:123666276:A:C p.(Phe1082Cys) NC_000003.12:123666276:A:C Identity +NM_001321309.2:c.3563_3564del NP_001308238.1:p.Gln1188fs NC_000003.12:123657321:CT: p.(Gln1188LeufsTer33) NC_000003.12:123657321:CT: p.(Gln1188LeufsTer33) NC_000003.12:123657321:CT: Analogous +NM_001346765.2:c.3899G>A NP_001333694.1:p.Arg1300Gln NC_000017.11:29098383:C:T p.(Arg1300Gln) NC_000017.11:29098383:C:T p.(Arg1300Gln) NC_000017.11:29098383:C:T Identity +NM_001145417.2:c.1258A>G NP_001138889.1:p.Ile420Val NC_000003.12:136151400:T:C p.(Ile420Val) NC_000003.12:136151400:T:C p.(Ile420Val) NC_000003.12:136151400:T:C Identity +NM_001012418.5:c.1128G>T NP_001012418.2:p.Lys376Asn NC_000006.12:2671339:C:A p.(Lys376Asn) NC_000006.12:2671339:C:A p.(Lys376Asn) NC_000006.12:2671339:C:A Identity +NM_012334.3:c.3668G>T NP_036466.2:p.Gly1223Val NC_000005.10:16694502:C:A p.(Gly1223Val) NC_000005.10:16694502:C:A p.(Gly1223Val) NC_000005.10:16694502:C:A Identity +NM_012334.3:c.2569A>G NP_036466.2:p.Arg857Gly NC_000005.10:16701825:T:C p.(Arg857Gly) NC_000005.10:16701825:T:C p.(Arg857Gly) NC_000005.10:16701825:T:C Identity +NM_001198950.3:c.927T>G NP_001185879.1:p.Asn309Lys NC_000013.11:108820395:T:G p.(Asn309Lys) NC_000013.11:108820395:T:G p.(Asn309Lys) NC_000013.11:108820395:T:G Identity +NM_001318245.2:c.3826G>T NP_001305174.1:p.Val1276Leu NC_000022.11:25851516:G:T p.(Val1276Leu) NC_000022.11:25851516:G:T p.(Val1276Leu) NC_000022.11:25851516:G:T Identity +NM_017762.3:c.101T>G NP_060232.2:p.Leu34Arg NC_000015.10:30990796:A:C p.(Leu34Arg) NC_000015.10:30990796:A:C p.(Leu34Arg) NC_000015.10:30990796:A:C Identity +NM_017762.3:c.509C>T NP_060232.2:p.Thr170Ile NC_000015.10:30967975:G:A p.(Thr170Ile) NC_000015.10:30967975:G:A p.(Thr170Ile) NC_000015.10:30967975:G:A Identity +NM_000259.3:c.2459T>C NP_000250.3:p.Ile820Thr NC_000015.10:52375421:A:G p.(Ile820Thr) NC_000015.10:52375421:A:G p.(Ile820Thr) NC_000015.10:52375421:A:G Identity +NM_001080779.2:c.512G>A NP_001074248.1:p.Arg171Gln NC_000017.11:1482894:C:T p.(Arg171Gln) NC_000017.11:1482894:C:T p.(Arg171Gln) NC_000017.11:1482894:C:T Identity +NM_001282971.2:c.1978G>C NP_001269900.1:p.Gly660Arg NC_000008.11:124553293:C:G p.(Gly660Arg) NC_000008.11:124553293:C:G p.(Gly660Arg) NC_000008.11:124553293:C:G Identity +NM_001040105.2:c.9550C>G NP_001035194.1:p.Leu3184Val NC_000007.14:101040965:C:G p.(Leu3184Val) NC_000007.14:101040965:C:G p.(Leu3184Val) NC_000007.14:101040965:C:G Identity +NM_001040105.2:c.355T>C NP_001035194.1:p.Ser119Pro NC_000007.14:101031770:T:C p.(Ser119Pro) NC_000007.14:101031770:T:C p.(Ser119Pro) NC_000007.14:101031770:T:C Identity +NM_001198815.1:c.4439G>A NP_001185744.1:p.Ser1480Asn NC_000006.12:31029869:G:A p.(Ser1480Asn) NC_000006.12:31029869:G:A p.(Ser1480Asn) NC_000006.12:31029869:G:A Identity +NM_002458.3:c.14891G>A NP_002449.2:p.Arg4964Gln NC_000011.10:1252369:G:A p.(Arg4964Gln) NC_000011.10:1252369:G:A p.(Arg4964Gln) NC_000011.10:1252369:G:A Identity +NM_001378205.1:c.5351G>A NP_001365134.1:p.Arg1784Gln NC_000018.10:8825903:G:A p.(Arg1784Gln) NC_000018.10:8825903:G:A p.(Arg1784Gln) NC_000018.10:8825903:G:A Identity +NM_139242.4:c.1117C>T NP_640335.2:p.Pro373Ser NC_000015.10:65003114:G:A p.(Pro373Ser) NC_000015.10:65003114:G:A p.(Pro373Ser) NC_000015.10:65003114:G:A Identity +NM_001384347.1:c.1075G>A NP_001371276.1:p.Ala359Thr NC_000020.11:62200876:G:A p.(Ala359Thr) NC_000020.11:62200876:G:A p.(Ala359Thr) NC_000020.11:62200876:G:A Identity +NM_018728.4:c.4861A>C NP_061198.2:p.Asn1621His NC_000015.10:52196442:T:G p.(Asn1621His) NC_000015.10:52196442:T:G p.(Asn1621His) NC_000015.10:52196442:T:G Identity +NM_000700.3:c.137C>T NP_000691.1:p.Ser46Leu NC_000009.12:73158764:C:T p.(Ser46Leu) NC_000009.12:73158764:C:T p.(Ser46Leu) NC_000009.12:73158764:C:T Identity +NM_013451.4:c.2885C>G NP_038479.1:p.Ala962Gly NC_000010.11:93361540:G:C p.(Ala962Gly) NC_000010.11:93361540:G:C p.(Ala962Gly) NC_000010.11:93361540:G:C Identity +NM_017762.3:c.1502G>A NP_060232.2:p.Gly501Asp NC_000015.10:30947175:C:T p.(Gly501Asp) NC_000015.10:30947175:C:T p.(Gly501Asp) NC_000015.10:30947175:C:T Identity +NM_021090.4:c.2164C>T NP_066576.1:p.Leu722Phe NC_000022.11:30019822:C:T p.(Leu722Phe) NC_000022.11:30019822:C:T p.(Leu722Phe) NC_000022.11:30019822:C:T Identity +NM_002458.3:c.7871C>G NP_002449.2:p.Pro2624Arg NC_000011.10:1244750:C:G p.(Pro2624Arg) NC_000011.10:1244750:C:G p.(Pro2624Arg) NC_000011.10:1244750:C:G Identity +NM_002458.3:c.1084G>A NP_002449.2:p.Gly362Ser NC_000011.10:1229276:G:A p.(Gly362Ser) NC_000011.10:1229276:G:A p.(Gly362Ser) NC_000011.10:1229276:G:A Identity +NM_024544.3:c.502G>A NP_078820.2:p.Asp168Asn NC_000001.11:20501246:C:T p.(Asp168Asn) NC_000001.11:20501246:C:T p.(Asp168Asn) NC_000001.11:20501246:C:T Identity +NM_152372.4:c.2008G>A NP_689585.3:p.Glu670Lys NC_000001.11:24082676:C:T p.(Glu670Lys) NC_000001.11:24082676:C:T p.(Glu670Lys) NC_000001.11:24082676:C:T Identity +NM_001122853.3:c.533A>G NP_001116325.1:p.Gln178Arg NC_000005.10:150672447:A:G p.(Gln178Arg) NC_000005.10:150672447:A:G p.(Gln178Arg) NC_000005.10:150672447:A:G Identity +NM_001256267.2:c.3359A>G NP_001243196.1:p.Lys1120Arg NC_000010.11:68199440:A:G p.(Lys1120Arg) NC_000010.11:68199440:A:G p.(Lys1120Arg) NC_000010.11:68199440:A:G Identity +NM_001127392.3:c.914C>T NP_001120864.1:p.Pro305Leu NC_000011.10:61771672:C:T p.(Pro305Leu) NC_000011.10:61771672:C:T p.(Pro305Leu) NC_000011.10:61771672:C:T Identity +NM_000700.3:c.218A>G NP_000691.1:p.Asn73Ser NC_000009.12:73159370:A:G p.(Asn73Ser) NC_000009.12:73159370:A:G p.(Asn73Ser) NC_000009.12:73159370:A:G Identity +NM_003970.4:c.1231G>C NP_003961.3:p.Glu411Gln NC_000008.11:2076250:G:C p.(Glu411Gln) NC_000008.11:2076250:G:C p.(Glu411Gln) NC_000008.11:2076250:G:C Identity +NM_003970.4:c.1367G>A NP_003961.3:p.Arg456Gln NC_000008.11:2078837:G:A p.(Arg456Gln) NC_000008.11:2078837:G:A p.(Arg456Gln) NC_000008.11:2078837:G:A Identity +NM_021245.4:c.98A>G NP_067068.1:p.Asn33Ser NC_000010.11:73637897:T:C p.(Asn33Ser) NC_000010.11:73637897:T:C p.(Asn33Ser) NC_000010.11:73637897:T:C Identity +NM_021245.4:c.373G>A NP_067068.1:p.Gly125Arg NC_000010.11:73634612:C:T p.(Gly125Arg) NC_000010.11:73634612:C:T p.(Gly125Arg) NC_000010.11:73634612:C:T Identity +NM_001293204.1:c.197C>G NP_001280133.1:p.Ser66Cys NC_000016.10:29830948:C:G p.(Ser66Cys) NC_000016.10:29830948:C:G p.(Ser66Cys) NC_000016.10:29830948:C:G Identity +NM_001001924.3:c.3534G>T NP_001001924.1:p.Leu1178Phe NC_000008.11:17647046:C:A p.(Leu1178Phe) NC_000008.11:17647046:C:A p.(Leu1178Phe) NC_000008.11:17647046:C:A Identity +NM_001040105.2:c.2587G>A NP_001035194.1:p.Gly863Arg NC_000007.14:101034002:G:A p.(Gly863Arg) NC_000007.14:101034002:G:A p.(Gly863Arg) NC_000007.14:101034002:G:A Identity +NM_024561.5:c.2066T>C NP_078837.3:p.Leu689Pro NC_000013.11:41372740:T:C p.(Leu689Pro) NC_000013.11:41372740:T:C p.(Leu689Pro) NC_000013.11:41372740:T:C Identity +NM_001320880.2:c.365T>C NP_001307809.1:p.Leu122Ser NC_000010.11:73396059:A:G p.(Leu122Ser) NC_000010.11:73396059:A:G p.(Leu122Ser) NC_000010.11:73396059:A:G Identity +NM_001127392.3:c.2900G>T NP_001120864.1:p.Gly967Val NC_000011.10:61781707:G:T p.(Gly967Val) NC_000011.10:61781707:G:T p.(Gly967Val) NC_000011.10:61781707:G:T Identity +NM_016459.4:c.145C>T NP_057543.2:p.Arg49Cys NC_000005.10:139389711:G:A p.(Arg49Cys) NC_000005.10:139389711:G:A p.(Arg49Cys) NC_000005.10:139389711:G:A Identity +NM_001318359.2:c.697C>T NP_001305288.1:p.Arg233Trp NC_000004.12:40102781:C:T p.(Arg233Trp) NC_000004.12:40102781:C:T p.(Arg233Trp) NC_000004.12:40102781:C:T Identity +NM_002458.3:c.13021A>C NP_002449.2:p.Thr4341Pro NC_000011.10:1249900:A:C p.(Thr4341Pro) NC_000011.10:1249900:A:C p.(Thr4341Pro) NC_000011.10:1249900:A:C Identity +NM_002458.3:c.13790C>T NP_002449.2:p.Thr4597Ile NC_000011.10:1250669:C:T p.(Thr4597Ile) NC_000011.10:1250669:C:T p.(Thr4597Ile) NC_000011.10:1250669:C:T Identity +NM_207015.3:c.394G>A NP_996898.2:p.Ala132Thr NC_000003.12:175097139:G:A p.(Ala132Thr) NC_000003.12:175097139:G:A p.(Ala132Thr) NC_000003.12:175097139:G:A Identity +NM_001350748.2:c.3916G>A NP_001337677.1:p.Asp1306Asn NC_000013.11:101081582:C:T p.(Asp1306Asn) NC_000013.11:101081582:C:T p.(Asp1306Asn) NC_000013.11:101081582:C:T Identity +NM_005468.3:c.964C>T NP_005459.2:p.Arg322Trp NC_000011.10:65054277:G:A p.(Arg322Trp) NC_000011.10:65054277:G:A p.(Arg322Trp) NC_000011.10:65054277:G:A Identity +NM_001378092.1:c.1867A>G NP_001365021.1:p.Ile623Val NC_000011.10:70161259:A:G p.(Ile623Val) NC_000011.10:70161259:A:G p.(Ile623Val) NC_000011.10:70161259:A:G Identity +NM_001130172.2:c.1807A>G NP_001123644.1:p.Ser603Gly NC_000006.12:135217872:A:G p.(Ser603Gly) NC_000006.12:135217872:A:G p.(Ser603Gly) NC_000006.12:135217872:A:G Identity +NM_001111018.2:c.3289C>T NP_001104488.1:p.Arg1097Trp NC_000011.10:20045248:C:T p.(Arg1097Trp) NC_000011.10:20045248:C:T p.(Arg1097Trp) NC_000011.10:20045248:C:T Identity +NM_001105538.2:c.2810A>G NP_001099008.1:p.Asn937Ser NC_000017.11:4542994:T:C p.(Asn937Ser) NC_000017.11:4542994:T:C p.(Asn937Ser) NC_000017.11:4542994:T:C Identity +NM_001254718.3:c.1060T>A NP_001241647.1:p.Tyr354Asn NC_000012.12:101648088:T:A p.(Tyr354Asn) NC_000012.12:101648088:T:A p.(Tyr354Asn) NC_000012.12:101648088:T:A Identity +NM_004997.3:c.1042C>T NP_004988.2:p.Leu348Phe NC_000001.11:203170341:G:A p.(Leu348Phe) NC_000001.11:203170341:G:A p.(Leu348Phe) NC_000001.11:203170341:G:A Identity +NM_001100112.2:c.5302G>A NP_001093582.1:p.Ala1768Thr NC_000017.11:10523665:C:T p.(Ala1768Thr) NC_000017.11:10523665:C:T p.(Ala1768Thr) NC_000017.11:10523665:C:T Identity +NM_001379245.1:c.4651G>A NP_001366174.1:p.Val1551Met NC_000013.11:35177100:G:A p.(Val1551Met) NC_000013.11:35177100:G:A p.(Val1551Met) NC_000013.11:35177100:G:A Identity +NM_001159.4:c.1910G>C NP_001150.3:p.Gly637Ala NC_000002.12:200621154:G:C p.(Gly637Ala) NC_000002.12:200621154:G:C p.(Gly637Ala) NC_000002.12:200621154:G:C Identity +NM_001158.5:c.1562A>T NP_001149.2:p.His521Leu NC_000017.11:42846187:A:T p.(His521Leu) NC_000017.11:42846187:A:T p.(His521Leu) NC_000017.11:42846187:A:T Identity +NM_001114132.2:c.98G>A NP_001107604.1:p.Ser33Asn NC_000002.12:203041810:G:A p.(Ser33Asn) NC_000002.12:203041810:G:A p.(Ser33Asn) NC_000002.12:203041810:G:A Identity +NM_001365116.2:c.7177C>T NP_001352045.1:p.Arg2393Cys NC_000003.12:47007294:C:T p.(Arg2393Cys) NC_000003.12:47007294:C:T p.(Arg2393Cys) NC_000003.12:47007294:C:T Identity +NM_002469.3:c.180A>T NP_002460.1:p.Glu60Asp NC_000012.12:80707898:A:T p.(Glu60Asp) NC_000012.12:80707898:A:T p.(Glu60Asp) NC_000012.12:80707898:A:T Identity +NM_001256012.3:c.1074A>T NP_001242941.1:p.Lys358Asn NC_000017.11:8548397:T:A p.(Lys358Asn) NC_000017.11:8548397:T:A p.(Lys358Asn) NC_000017.11:8548397:T:A Identity +NM_001040113.2:c.4229A>G NP_001035202.1:p.Asn1410Ser NC_000016.10:15724317:T:C p.(Asn1410Ser) NC_000016.10:15724317:T:C p.(Asn1410Ser) NC_000016.10:15724317:T:C Identity +NM_017533.2:c.3776A>G NP_060003.2:p.Gln1259Arg NC_000017.11:10451414:T:C p.(Gln1259Arg) NC_000017.11:10451414:T:C p.(Gln1259Arg) NC_000017.11:10451414:T:C Identity +NM_001030007.2:c.2102A>G NP_001025178.1:p.Asn701Ser NC_000016.10:71739247:T:C p.(Asn701Ser) NC_000016.10:71739247:T:C p.(Asn701Ser) NC_000016.10:71739247:T:C Identity +NM_001281710.2:c.2160C>A NP_001268639.1:p.Asp720Glu NC_000002.12:96373317:C:A p.(Asp720Glu) NC_000002.12:96373317:C:A p.(Asp720Glu) NC_000002.12:96373317:C:A Identity +NM_000352.6:c.4190C>A NP_000343.2:p.Thr1397Lys NC_000011.10:17395859:G:T p.(Thr1397Lys) NC_000011.10:17395859:G:T p.(Thr1397Lys) NC_000011.10:17395859:G:T Identity +NM_001405666.3:c.220G>A NP_001392595.1:p.Glu74Lys NC_000001.11:16589956:C:T p.(Glu74Lys) NC_000001.11:16589956:C:T p.(Glu74Lys) NC_000001.11:16589956:C:T Identity +NM_001170755.3:c.217A>T NP_001164226.1:p.Asn73Tyr NC_000001.11:144438005:T:A p.(Asn73Tyr) NC_000001.11:144438005:T:A p.(Asn73Tyr) NC_000001.11:144438005:T:A Identity +NM_002471.4:c.3386C>T NP_002462.2:p.Thr1129Ile NC_000014.9:23390402:G:A p.(Thr1129Ile) NC_000014.9:23390402:G:A p.(Thr1129Ile) NC_000014.9:23390402:G:A Identity +NM_000257.4:c.4654G>T NP_000248.2:p.Glu1552Ter NC_000014.9:23416302:C:A p.(Glu1552Ter) NC_000014.9:23416302:C:A p.(Glu1552Ter) NC_000014.9:23416302:C:A Identity +NM_020884.7:c.5090C>T NP_065935.4:p.Ala1697Val NC_000020.11:35000600:C:T p.(Ala1697Val) NC_000020.11:35000600:C:T p.(Ala1697Val) NC_000020.11:35000600:C:T Identity +NM_002472.3:c.295C>A NP_002463.2:p.Leu99Ile NC_000017.11:10418945:G:T p.(Leu99Ile) NC_000017.11:10418945:G:T p.(Leu99Ile) NC_000017.11:10418945:G:T Identity +NM_012334.3:c.238A>G NP_036466.2:p.Met80Val NC_000005.10:16818049:T:C p.(Met80Val) NC_000005.10:16818049:T:C p.(Met80Val) NC_000005.10:16818049:T:C Identity +NM_001346765.2:c.1796G>A NP_001333694.1:p.Arg599Gln NC_000017.11:29119403:C:T p.(Arg599Gln) NC_000017.11:29119403:C:T p.(Arg599Gln) NC_000017.11:29119403:C:T Identity +NM_001351504.2:c.1756C>G NP_001338433.1:p.Leu586Val NC_000009.12:97666817:C:G p.(Leu586Val) NC_000009.12:97666817:C:G p.(Leu586Val) NC_000009.12:97666817:C:G Identity +NM_001362950.1:c.661A>G NP_001349879.1:p.Met221Val NC_000002.12:24691608:A:G p.(Met221Val) NC_000002.12:24691608:A:G p.(Met221Val) NC_000002.12:24691608:A:G Identity +NM_001004720.3:c.173G>A NP_001004720.1:p.Arg58Gln NC_000002.12:105855235:G:A p.(Arg58Gln) NC_000002.12:105855235:G:A p.(Arg58Gln) NC_000002.12:105855235:G:A Identity +NM_013436.5:c.526C>G NP_038464.1:p.Pro176Ala NC_000002.12:183002029:G:C p.(Pro176Ala) NC_000002.12:183002029:G:C p.(Pro176Ala) NC_000002.12:183002029:G:C Identity +NM_207363.3:c.3338C>T NP_997246.2:p.Ser1113Phe NC_000002.12:132783472:G:A p.(Ser1113Phe) NC_000002.12:132783472:G:A p.(Ser1113Phe) NC_000002.12:132783472:G:A Identity +NM_005381.3:c.914C>T NP_005372.2:p.Thr305Met NC_000002.12:231460277:G:A p.(Thr305Met) NC_000002.12:231460277:G:A p.(Thr305Met) NC_000002.12:231460277:G:A Identity +NM_001198950.3:c.4424A>G NP_001185879.1:p.His1475Arg NC_000013.11:109140635:A:G p.(His1475Arg) NC_000013.11:109140635:A:G p.(His1475Arg) NC_000013.11:109140635:A:G Identity +NM_001083615.4:c.3524G>T NP_001077084.2:p.Gly1175Val NC_000002.12:170542934:G:T p.(Gly1175Val) NC_000002.12:170542934:G:T p.(Gly1175Val) NC_000002.12:170542934:G:T Identity +NM_001077261.4:c.457C>T NP_001070729.2:p.Pro153Ser NC_000012.12:124473085:G:A p.(Pro153Ser) NC_000012.12:124473085:G:A p.(Pro153Ser) NC_000012.12:124473085:G:A Identity +NM_147130.3:c.530C>T NP_667341.1:p.Pro177Leu NC_000006.12:31589142:G:A p.(Pro177Leu) NC_000006.12:31589142:G:A p.(Pro177Leu) NC_000006.12:31589142:G:A Identity +NM_001202439.3:c.755T>C NP_001189368.1:p.Leu252Pro NC_000011.10:17367341:T:C p.(Leu252Pro) NC_000011.10:17367341:T:C p.(Leu252Pro) NC_000011.10:17367341:T:C Identity +NM_001300899.2:c.3164G>A NP_001287828.1:p.Ser1055Asn NC_000006.12:75907660:G:A p.(Ser1055Asn) NC_000006.12:75907660:G:A p.(Ser1055Asn) NC_000006.12:75907660:G:A Identity +NM_001080527.2:c.3515G>A NP_001073996.1:p.Arg1172His NC_000002.12:127622048:G:A p.(Arg1172His) NC_000002.12:127622048:G:A p.(Arg1172His) NC_000002.12:127622048:G:A Identity +NM_001130065.2:c.4373C>T NP_001123537.1:p.Ala1458Val NC_000019.10:17200638:C:T p.(Ala1458Val) NC_000019.10:17200638:C:T p.(Ala1458Val) NC_000019.10:17200638:C:T Identity +NM_001150.3:c.2551C>T NP_001141.2:p.Pro851Ser NC_000015.10:89791070:G:A p.(Pro851Ser) NC_000015.10:89791070:G:A p.(Pro851Ser) NC_000015.10:89791070:G:A Identity +NM_022477.4:c.94G>A NP_071922.2:p.Val32Ile NC_000020.11:36688747:C:T p.(Val32Ile) NC_000020.11:36688747:C:T p.(Val32Ile) NC_000020.11:36688747:C:T Identity +NM_021075.4:c.605C>G NP_066553.3:p.Thr202Arg NC_000021.9:42903616:C:G p.(Thr202Arg) NC_000021.9:42903616:C:G p.(Thr202Arg) NC_000021.9:42903616:C:G Identity +NM_001164507.2:c.1041A>C NP_001157979.2:p.Lys347Asn NC_000002.12:151706991:T:G p.(Lys347Asn) NC_000002.12:151706991:T:G p.(Lys347Asn) NC_000002.12:151706991:T:G Identity +NM_016599.5:c.585T>A NP_057683.1:p.Phe195Leu NC_000004.12:119185989:T:A p.(Phe195Leu) NC_000004.12:119185989:T:A p.(Phe195Leu) NC_000004.12:119185989:T:A Identity +NM_001003954.3:c.146C>T NP_001003954.1:p.Ala49Val NC_000008.11:123712745:G:A p.(Ala49Val) NC_000008.11:123712745:G:A p.(Ala49Val) NC_000008.11:123712745:G:A Identity +NM_001130065.2:c.4862G>A NP_001123537.1:p.Arg1621Gln NC_000019.10:17202866:G:A p.(Arg1621Gln) NC_000019.10:17202866:G:A p.(Arg1621Gln) NC_000019.10:17202866:G:A Identity +NM_001146312.3:c.137C>A NP_001139784.1:p.Ala46Asp NC_000017.11:12715533:C:A p.(Ala46Asp) NC_000017.11:12715533:C:A p.(Ala46Asp) NC_000017.11:12715533:C:A Identity +NM_001164507.2:c.19199A>G NP_001157979.2:p.Tyr6400Cys NC_000002.12:151561010:T:C p.(Tyr6400Cys) NC_000002.12:151561010:T:C p.(Tyr6400Cys) NC_000002.12:151561010:T:C Identity +NM_001261826.3:c.1855G>A NP_001248755.1:p.Glu619Lys NC_000019.10:2117225:C:T p.(Glu619Lys) NC_000019.10:2117225:C:T p.(Glu619Lys) NC_000019.10:2117225:C:T Identity +NM_001155.5:c.1545C>G NP_001146.2:p.Asn515Lys NC_000005.10:151117153:G:C p.(Asn515Lys) NC_000005.10:151117153:G:C p.(Asn515Lys) NC_000005.10:151117153:G:C Identity +NM_153029.4:c.698A>G NP_694574.3:p.Gln233Arg NC_000016.10:48561944:T:C p.(Gln233Arg) NC_000016.10:48561944:T:C p.(Gln233Arg) NC_000016.10:48561944:T:C Identity +NM_001110798.2:c.600G>A NP_001104268.1:p.Met200Ile NC_000013.11:41325759:G:A p.(Met200Ile) NC_000013.11:41325759:G:A p.(Met200Ile) NC_000013.11:41325759:G:A Identity +NM_001320263.2:c.119C>T NP_001307192.1:p.Ala40Val NC_000010.11:74138260:G:A p.(Ala40Val) NC_000010.11:74138260:G:A p.(Ala40Val) NC_000010.11:74138260:G:A Identity +NM_015456.5:c.1564G>A NP_056271.3:p.Asp522Asn NC_000009.12:137272154:G:A p.(Asp522Asn) NC_000009.12:137272154:G:A p.(Asp522Asn) NC_000009.12:137272154:G:A Identity +NM_001365552.1:c.1297G>C NP_001352481.1:p.Glu433Gln NC_000013.11:52087432:C:G p.(Glu433Gln) NC_000013.11:52087432:C:G p.(Glu433Gln) NC_000013.11:52087432:C:G Identity +NM_002904.6:c.17C>T NP_002895.3:p.Pro6Leu NC_000006.12:31958429:G:A p.(Pro6Leu) NC_000006.12:31958429:G:A p.(Pro6Leu) NC_000006.12:31958429:G:A Identity +NM_003803.4:c.4192A>G NP_003794.3:p.Ile1398Val NC_000018.10:3086096:T:C p.(Ile1398Val) NC_000018.10:3086096:T:C p.(Ile1398Val) NC_000018.10:3086096:T:C Identity +NM_021245.4:c.731A>G NP_067068.1:p.Lys244Arg NC_000010.11:73632098:T:C p.(Lys244Arg) NC_000010.11:73632098:T:C p.(Lys244Arg) NC_000010.11:73632098:T:C Identity +NM_001330305.2:c.697G>T NP_001317234.1:p.Gly233Cys NC_000012.12:57091737:G:T p.(Gly233Cys) NC_000012.12:57091737:G:T p.(Gly233Cys) NC_000012.12:57091737:G:T Identity +NM_197956.4:c.920C>T NP_931045.1:p.Pro307Leu NC_000009.12:128063491:G:A p.(Pro307Leu) NC_000009.12:128063491:G:A p.(Pro307Leu) NC_000009.12:128063491:G:A Identity +NM_001297698.2:c.22C>A NP_001284627.1:p.Pro8Thr NC_000012.12:7789635:C:A p.(Pro8Thr) NC_000012.12:7789635:C:A p.(Pro8Thr) NC_000012.12:7789635:C:A Identity +NM_006161.3:c.218G>C NP_006152.2:p.Arg73Pro NC_000005.10:135535472:C:G p.(Arg73Pro) NC_000005.10:135535472:C:G p.(Arg73Pro) NC_000005.10:135535472:C:G Identity +NM_020999.4:c.322G>A NP_066279.2:p.Gly108Ser NC_000010.11:69572721:C:T p.(Gly108Ser) NC_000010.11:69572721:C:T p.(Gly108Ser) NC_000010.11:69572721:C:T Identity +NM_001172309.2:c.792del NP_001165780.1:p.Ala265fs NC_000001.11:77929432:AAA:AA p.(Ala265GlnfsTer9) NC_000001.11:77929432:AAA:AA p.(Ala265GlnfsTer9) NC_000001.11:77929434:A: Analogous +NM_001111018.2:c.3523G>C NP_001104488.1:p.Gly1175Arg NC_000011.10:20045482:G:C p.(Gly1175Arg) NC_000011.10:20045482:G:C p.(Gly1175Arg) NC_000011.10:20045482:G:C Identity +NM_001111018.2:c.1199A>G NP_001104488.1:p.Lys400Arg NC_000011.10:19933634:A:G p.(Lys400Arg) NC_000011.10:19933634:A:G p.(Lys400Arg) NC_000011.10:19933634:A:G Identity +NM_001127392.3:c.1786C>G NP_001120864.1:p.Gln596Glu NC_000011.10:61777458:C:G p.(Gln596Glu) NC_000011.10:61777458:C:G p.(Gln596Glu) NC_000011.10:61777458:C:G Identity +NM_001127392.3:c.755C>G NP_001120864.1:p.Pro252Arg NC_000011.10:61771513:C:G p.(Pro252Arg) NC_000011.10:61771513:C:G p.(Pro252Arg) NC_000011.10:61771513:C:G Identity +NM_001365116.2:c.5453T>C NP_001352045.1:p.Leu1818Pro NC_000003.12:47003051:T:C p.(Leu1818Pro) NC_000003.12:47003051:T:C p.(Leu1818Pro) NC_000003.12:47003051:T:C Identity +NM_001365116.2:c.8034C>G NP_001352045.1:p.Ile2678Met NC_000003.12:47009096:C:G p.(Ile2678Met) NC_000003.12:47009096:C:G p.(Ile2678Met) NC_000003.12:47009096:C:G Identity +NM_001330425.3:c.500G>A NP_001317354.1:p.Arg167Gln NC_000002.12:71075627:G:A p.(Arg167Gln) NC_000002.12:71075627:G:A p.(Arg167Gln) NC_000002.12:71075627:G:A Identity +NM_197956.4:c.44G>C NP_931045.1:p.Arg15Pro NC_000009.12:128067057:C:G p.(Arg15Pro) NC_000009.12:128067057:C:G p.(Arg15Pro) NC_000009.12:128067057:C:G Identity +NM_001005388.3:c.119C>T NP_001005388.2:p.Pro40Leu NC_000001.11:204952019:C:T p.(Pro40Leu) NC_000001.11:204952019:C:T p.(Pro40Leu) NC_000001.11:204952019:C:T Identity +NM_001136022.3:c.2314T>G NP_001129494.1:p.Phe772Val NC_000014.9:24376361:T:G p.(Phe772Val) NC_000014.9:24376361:T:G p.(Phe772Val) NC_000014.9:24376361:T:G Identity +NM_001113178.3:c.3888G>A NP_001106649.1:p.Met1296Ile NC_000016.10:69693715:G:A p.(Met1296Ile) NC_000016.10:69693715:G:A p.(Met1296Ile) NC_000016.10:69693715:G:A Identity +NM_152667.3:c.194A>G NP_689880.1:p.Asn65Ser NC_000020.11:25616477:T:C p.(Asn65Ser) NC_000020.11:25616477:T:C p.(Asn65Ser) NC_000020.11:25616477:T:C Identity +NM_001127.4:c.587T>G NP_001118.3:p.Leu196Arg NC_000022.11:29356554:A:C p.(Leu196Arg) NC_000022.11:29356554:A:C p.(Leu196Arg) NC_000022.11:29356554:A:C Identity +NM_001282474.2:c.181C>G NP_001269403.1:p.Leu61Val NC_000014.9:23563465:G:C p.(Leu61Val) NC_000014.9:23563465:G:C p.(Leu61Val) NC_000014.9:23563465:G:C Identity +NM_001144961.2:c.533A>C NP_001138433.1:p.Gln178Pro NC_000006.12:31558042:A:C p.(Gln178Pro) NC_000006.12:31558042:A:C p.(Gln178Pro) NC_000006.12:31558042:A:C Identity +NM_001042635.2:c.943C>T NP_001036100.1:p.Arg315Trp NC_000014.9:23478020:C:T p.(Arg315Trp) NC_000014.9:23478020:C:T p.(Arg315Trp) NC_000014.9:23478020:C:T Identity +NM_001164.5:c.1370G>A NP_001155.1:p.Arg457Gln NC_000011.10:6402093:C:T p.(Arg457Gln) NC_000011.10:6402093:C:T p.(Arg457Gln) NC_000011.10:6402093:C:T Identity +NM_001198972.2:c.2530C>A NP_001185901.1:p.Leu844Met NC_000001.11:32771885:C:A p.(Leu844Met) NC_000001.11:32771885:C:A p.(Leu844Met) NC_000001.11:32771885:C:A Identity +NM_001001414.2:c.185C>T NP_001001414.1:p.Ala62Val NC_000019.10:39197166:C:T p.(Ala62Val) NC_000019.10:39197166:C:T p.(Ala62Val) NC_000019.10:39197166:C:T Identity +NM_001014839.2:c.2020G>A NP_001014839.1:p.Val674Ile NC_000001.11:35565492:G:A p.(Val674Ile) NC_000001.11:35565492:G:A p.(Val674Ile) NC_000001.11:35565492:G:A Identity +NM_207363.3:c.4973G>A NP_997246.2:p.Ser1658Asn NC_000002.12:132781127:C:T p.(Ser1658Asn) NC_000002.12:132781127:C:T p.(Ser1658Asn) NC_000002.12:132781127:C:T Identity +NM_002508.3:c.2072C>T NP_002499.2:p.Thr691Ile NC_000001.11:236024125:G:A p.(Thr691Ile) NC_000001.11:236024125:G:A p.(Thr691Ile) NC_000001.11:236024125:G:A Identity +NM_001008860.3:c.676A>G NP_001008860.1:p.Ile226Val NC_000015.10:22866439:A:G p.(Ile226Val) NC_000015.10:22866439:A:G p.(Ile226Val) NC_000015.10:22866439:A:G Identity +NM_015384.5:c.865A>G NP_056199.2:p.Lys289Glu NC_000005.10:36972037:A:G p.(Lys289Glu) NC_000005.10:36972037:A:G p.(Lys289Glu) NC_000005.10:36972037:A:G Identity +NM_015384.5:c.2022T>G NP_056199.2:p.Asn674Lys NC_000005.10:36985201:T:G p.(Asn674Lys) NC_000005.10:36985201:T:G p.(Asn674Lys) NC_000005.10:36985201:T:G Identity +NM_001077261.4:c.3667A>G NP_001070729.2:p.Thr1223Ala NC_000012.12:124350733:T:C p.(Thr1223Ala) NC_000012.12:124350733:T:C p.(Thr1223Ala) NC_000012.12:124350733:T:C Identity +NM_052966.4:c.2572G>A NP_443198.1:p.Val858Ile NC_000001.11:184795191:C:T p.(Val858Ile) NC_000001.11:184795191:C:T p.(Val858Ile) NC_000001.11:184795191:C:T Identity +NM_007361.4:c.3359A>G NP_031387.3:p.Tyr1120Cys NC_000014.9:52014347:T:C p.(Tyr1120Cys) NC_000014.9:52014347:T:C p.(Tyr1120Cys) NC_000014.9:52014347:T:C Identity +NM_020795.4:c.2334C>G NP_065846.1:p.Asp778Glu NC_000017.11:7417624:C:G p.(Asp778Glu) NC_000017.11:7417624:C:G p.(Asp778Glu) NC_000017.11:7417624:C:G Identity +NM_001128426.3:c.394T>C NP_001121898.1:p.Tyr132His NC_000004.12:112265785:T:C p.(Tyr132His) NC_000004.12:112265785:T:C p.(Tyr132His) NC_000004.12:112265785:T:C Identity +NM_001291571.2:c.1482G>T NP_001278500.1:p.Met494Ile NC_000017.11:43193595:G:T p.(Met494Ile) NC_000017.11:43193595:G:T p.(Met494Ile) NC_000017.11:43193595:G:T Identity +NM_001372065.1:c.1768G>T NP_001358994.1:p.Asp590Tyr NC_000011.10:134194071:C:A p.(Asp590Tyr) NC_000011.10:134194071:C:A p.(Asp590Tyr) NC_000011.10:134194071:C:A Identity +NM_001372065.1:c.1940T>C NP_001358994.1:p.Leu647Pro NC_000011.10:134192793:A:G p.(Leu647Pro) NC_000011.10:134192793:A:G p.(Leu647Pro) NC_000011.10:134192793:A:G Identity +NM_001301063.2:c.1987C>T NP_001287992.1:p.Pro663Ser NC_000005.10:150545327:C:T p.(Pro663Ser) NC_000005.10:150545327:C:T p.(Pro663Ser) NC_000005.10:150545327:C:T Identity +NM_001318051.2:c.217A>C NP_001304980.1:p.Lys73Gln NC_000005.10:53646271:A:C p.(Lys73Gln) NC_000005.10:53646271:A:C p.(Lys73Gln) NC_000005.10:53646271:A:C Identity +NM_001276293.2:c.862G>T NP_001263222.2:p.Ala288Ser NC_000003.12:52476542:G:T p.(Ala288Ser) NC_000003.12:52476542:G:T p.(Ala288Ser) NC_000003.12:52476542:G:T Identity +NM_152864.4:c.178C>A NP_690603.3:p.Arg60Ser NC_000020.11:63249948:G:T p.(Arg60Ser) NC_000020.11:63249948:G:T p.(Arg60Ser) NC_000020.11:63249948:G:T Identity +NM_001377351.1:c.172C>T NP_001364280.1:p.His58Tyr NC_000003.12:23900971:G:A p.(His58Tyr) NC_000003.12:23900971:G:A p.(His58Tyr) NC_000003.12:23900971:G:A Identity +NM_001330552.2:c.1193G>A NP_001317481.1:p.Arg398His NC_000016.10:57026135:G:A p.(Arg398His) NC_000016.10:57026135:G:A p.(Arg398His) NC_000016.10:57026135:G:A Identity +NM_176822.4:c.442G>A NP_789792.1:p.Glu148Lys NC_000011.10:7042467:G:A p.(Glu148Lys) NC_000011.10:7042467:G:A p.(Glu148Lys) NC_000011.10:7042467:G:A Identity +NM_134444.5:c.104T>G NP_604393.2:p.Leu35Trp NC_000019.10:55852183:T:G p.(Leu35Trp) NC_000019.10:55852183:T:G p.(Leu35Trp) NC_000019.10:55852183:T:G Identity +NM_001105541.2:c.566A>G NP_001099011.1:p.Glu189Gly NC_000008.11:24917548:A:G p.(Glu189Gly) NC_000008.11:24917548:A:G p.(Glu189Gly) NC_000008.11:24917548:A:G Identity +NM_001105541.2:c.307G>A NP_001099011.1:p.Glu103Lys NC_000008.11:24917289:G:A p.(Glu103Lys) NC_000008.11:24917289:G:A p.(Glu103Lys) NC_000008.11:24917289:G:A Identity +NM_001042540.2:c.46G>A NP_001036005.1:p.Glu16Lys NC_000003.12:196942457:C:T p.(Glu16Lys) NC_000003.12:196942457:C:T p.(Glu16Lys) NC_000003.12:196942457:C:T Identity +NM_001184976.2:c.805G>A NP_001171905.1:p.Val269Met NC_000012.12:54516251:G:A p.(Val269Met) NC_000012.12:54516251:G:A p.(Val269Met) NC_000012.12:54516251:G:A Identity +NM_004688.3:c.505C>G NP_004679.2:p.Arg169Gly NC_000002.12:151275612:G:C p.(Arg169Gly) NC_000002.12:151275612:G:C p.(Arg169Gly) NC_000002.12:151275612:G:C Identity +NM_032313.4:c.1931G>A NP_115689.1:p.Arg644Gln NC_000004.12:56963615:C:T p.(Arg644Gln) NC_000004.12:56963615:C:T p.(Arg644Gln) NC_000004.12:56963615:C:T Identity +NM_198976.4:c.749G>A NP_945327.3:p.Arg250His NC_000020.11:58989948:G:A p.(Arg250His) NC_000020.11:58989948:G:A p.(Arg250His) NC_000020.11:58989948:G:A Identity +NM_001172623.2:c.2045T>G NP_001166094.1:p.Val682Gly NC_000015.10:73254781:T:G p.(Val682Gly) NC_000015.10:73254781:T:G p.(Val682Gly) NC_000015.10:73254781:T:G Identity +NM_005383.2:c.851C>T NP_005374.2:p.Ser284Leu NC_000002.12:233034764:C:T p.(Ser284Leu) NC_000002.12:233034764:C:T p.(Ser284Leu) NC_000002.12:233034764:C:T Identity +NM_015039.4:c.664G>T NP_055854.1:p.Val222Phe NC_000001.11:183261290:C:A p.(Val222Phe) NC_000001.11:183261290:C:A p.(Val222Phe) NC_000001.11:183261290:C:A Identity +NM_001303272.2:c.1334G>C NP_001290201.1:p.Cys445Ser NC_000017.11:67739552:G:C p.(Cys445Ser) NC_000017.11:67739552:G:C p.(Cys445Ser) NC_000017.11:67739552:G:C Identity +NM_024654.5:c.1538A>G NP_078930.4:p.Glu513Gly NC_000001.11:6532076:T:C p.(Glu513Gly) NC_000001.11:6532076:T:C p.(Glu513Gly) NC_000001.11:6532076:T:C Identity +NM_015710.5:c.350G>A NP_056525.2:p.Arg117Gln NC_000019.10:47750237:G:A p.(Arg117Gln) NC_000019.10:47750237:G:A p.(Arg117Gln) NC_000019.10:47750237:G:A Identity +NM_005003.3:c.411G>C NP_004994.1:p.Lys137Asn NC_000016.10:23582343:C:G p.(Lys137Asn) NC_000016.10:23582343:C:G p.(Lys137Asn) NC_000016.10:23582343:C:G Identity +NM_001164507.2:c.2629C>A NP_001157979.2:p.Gln877Lys NC_000002.12:151687426:G:T p.(Gln877Lys) NC_000002.12:151687426:G:T p.(Gln877Lys) NC_000002.12:151687426:G:T Identity +NM_004210.5:c.1465C>G NP_004201.3:p.Pro489Ala NC_000010.11:103589638:C:G p.(Pro489Ala) NC_000010.11:103589638:C:G p.(Pro489Ala) NC_000010.11:103589638:C:G Identity +NM_001172309.2:c.1109T>G NP_001165780.1:p.Leu370Arg NC_000001.11:77935871:T:G p.(Leu370Arg) NC_000001.11:77935871:T:G p.(Leu370Arg) NC_000001.11:77935871:T:G Identity +NM_001164757.2:c.752C>T NP_001158229.1:p.Ser251Leu NC_000001.11:162356963:C:T p.(Ser251Leu) NC_000001.11:162356963:C:T p.(Ser251Leu) NC_000001.11:162356963:C:T Identity +NM_001267721.2:c.847G>A NP_001254650.1:p.Gly283Ser NC_000016.10:1979332:C:T p.(Gly283Ser) NC_000016.10:1979332:C:T p.(Gly283Ser) NC_000016.10:1979332:C:T Identity +NM_001146003.2:c.1141C>T NP_001139475.1:p.Arg381Trp NC_000003.12:131165483:C:T p.(Arg381Trp) NC_000003.12:131165483:C:T p.(Arg381Trp) NC_000003.12:131165483:C:T Identity +NM_015934.5:c.997C>G NP_057018.1:p.Arg333Gly NC_000002.12:202295762:C:G p.(Arg333Gly) NC_000002.12:202295762:C:G p.(Arg333Gly) NC_000002.12:202295762:C:G Identity +NM_017617.5:c.7013A>G NP_060087.3:p.Gln2338Arg NC_000009.12:136496725:T:C p.(Gln2338Arg) NC_000009.12:136496725:T:C p.(Gln2338Arg) NC_000009.12:136496725:T:C Identity +NM_001113178.3:c.3671G>T NP_001106649.1:p.Gly1224Val NC_000016.10:69693498:G:T p.(Gly1224Val) NC_000016.10:69693498:G:T p.(Gly1224Val) NC_000016.10:69693498:G:T Identity +NM_001143835.2:c.3887C>T NP_001137307.1:p.Pro1296Leu NC_000011.10:129864737:G:A p.(Pro1296Leu) NC_000011.10:129864737:G:A p.(Pro1296Leu) NC_000011.10:129864737:G:A Identity +NM_001143835.2:c.105A>T NP_001137307.1:p.Arg35Ser NC_000011.10:129892744:T:A p.(Arg35Ser) NC_000011.10:129892744:T:A p.(Arg35Ser) NC_000011.10:129892744:T:A Identity +NM_178170.3:c.1712C>T NP_835464.1:p.Ala571Val NC_000017.11:28740964:C:T p.(Ala571Val) NC_000017.11:28740964:C:T p.(Ala571Val) NC_000017.11:28740964:C:T Identity +NM_015456.5:c.943G>A NP_056271.3:p.Asp315Asn NC_000009.12:137264259:G:A p.(Asp315Asn) NC_000009.12:137264259:G:A p.(Asp315Asn) NC_000009.12:137264259:G:A Identity +NM_001113475.3:c.845C>T NP_001106946.1:p.Pro282Leu NC_000014.9:77405972:G:A p.(Pro282Leu) NC_000014.9:77405972:G:A p.(Pro282Leu) NC_000014.9:77405972:G:A Identity +NM_018958.3:c.1987A>G NP_061831.2:p.Ser663Gly NC_000015.10:24677853:A:G p.(Ser663Gly) NC_000015.10:24677853:A:G p.(Ser663Gly) NC_000015.10:24677853:A:G Identity +NM_001144060.2:c.1522A>C NP_001137532.1:p.Asn508His NC_000006.12:138432822:T:G p.(Asn508His) NC_000006.12:138432822:T:G p.(Asn508His) NC_000006.12:138432822:T:G Identity +NM_007361.4:c.2633C>T NP_031387.3:p.Ala878Val NC_000014.9:52027241:G:A p.(Ala878Val) NC_000014.9:52027241:G:A p.(Ala878Val) NC_000014.9:52027241:G:A Identity +NM_207330.3:c.331T>G NP_997213.1:p.Tyr111Asp NC_000004.12:48030136:T:G p.(Tyr111Asp) NC_000004.12:48030136:T:G p.(Tyr111Asp) NC_000004.12:48030136:T:G Identity +NM_007184.4:c.3301G>A NP_009115.3:p.Glu1101Lys NC_000003.12:52489522:G:A p.(Glu1101Lys) NC_000003.12:52489522:G:A p.(Glu1101Lys) NC_000003.12:52489522:G:A Identity +NM_177400.3:c.212C>T NP_796374.2:p.Ala71Val NC_000010.11:132785736:G:A p.(Ala71Val) NC_000010.11:132785736:G:A p.(Ala71Val) NC_000010.11:132785736:G:A Identity +NM_001321057.1:c.395T>C NP_001307986.1:p.Met132Thr NC_000019.10:55924651:A:G p.(Met132Thr) NC_000019.10:55924651:A:G p.(Met132Thr) NC_000019.10:55924651:A:G Identity +NM_001321057.1:c.1532C>G NP_001307986.1:p.Pro511Arg NC_000019.10:55912284:G:C p.(Pro511Arg) NC_000019.10:55912284:G:C p.(Pro511Arg) NC_000019.10:55912284:G:C Identity +NM_001160.3:c.1789C>T NP_001151.1:p.Arg597Cys NC_000012.12:98677452:C:T p.(Arg597Cys) NC_000012.12:98677452:C:T p.(Arg597Cys) NC_000012.12:98677452:C:T Identity +NM_000268.4:c.1168A>G NP_000259.1:p.Ile390Val NC_000022.11:29673313:A:G p.(Ile390Val) NC_000022.11:29673313:A:G p.(Ile390Val) NC_000022.11:29673313:A:G Identity +NM_002513.3:c.389G>T NP_002504.2:p.Gly130Val NC_000016.10:1770883:C:A p.(Gly130Val) NC_000016.10:1770883:C:A p.(Gly130Val) NC_000016.10:1770883:C:A Identity +NM_001080413.3:c.2044A>G NP_001073882.3:p.Arg682Gly NC_000007.14:144397271:T:C p.(Arg682Gly) NC_000007.14:144397271:T:C p.(Arg682Gly) NC_000007.14:144397271:T:C Identity +NM_000268.4:c.1454A>T NP_000259.1:p.Asn485Ile NC_000022.11:29678202:A:T p.(Asn485Ile) NC_000022.11:29678202:A:T p.(Asn485Ile) NC_000022.11:29678202:A:T Identity +NM_004289.7:c.1559C>T NP_004280.5:p.Ser520Leu NC_000007.14:26185256:C:T p.(Ser520Leu) NC_000007.14:26185256:C:T p.(Ser520Leu) NC_000007.14:26185256:C:T Identity +NM_012118.4:c.547A>C NP_036250.2:p.Ile183Leu NC_000004.12:139044724:A:C p.(Ile183Leu) NC_000004.12:139044724:A:C p.(Ile183Leu) NC_000004.12:139044724:A:C Identity +NM_001256394.2:c.2180C>T NP_001243323.1:p.Thr727Met NC_000009.12:92311233:G:A p.(Thr727Met) NC_000009.12:92311233:G:A p.(Thr727Met) NC_000009.12:92311233:G:A Identity +NM_006392.4:c.272T>C NP_006383.2:p.Val91Ala NC_000020.11:2654476:T:C p.(Val91Ala) NC_000020.11:2654476:T:C p.(Val91Ala) NC_000020.11:2654476:T:C Identity +NM_174913.3:c.1838G>A NP_777573.1:p.Arg613Gln NC_000014.9:24305021:G:A p.(Arg613Gln) NC_000014.9:24305021:G:A p.(Arg613Gln) NC_000014.9:24305021:G:A Identity +NM_001136024.4:c.2857T>C NP_001129496.1:p.Ser953Pro NC_000023.11:17727493:T:C p.(Ser953Pro) NC_000023.11:17727493:T:C p.(Ser953Pro) NC_000023.11:17727493:T:C Identity +NM_001256067.2:c.749A>G NP_001242996.1:p.Asp250Gly NC_000009.12:137431285:A:G p.(Asp250Gly) NC_000009.12:137431285:A:G p.(Asp250Gly) NC_000009.12:137431285:A:G Identity +NM_007361.4:c.1292C>T NP_031387.3:p.Ser431Leu NC_000014.9:52053715:G:A p.(Ser431Leu) NC_000014.9:52053715:G:A p.(Ser431Leu) NC_000014.9:52053715:G:A Identity +NM_015384.5:c.4909A>G NP_056199.2:p.Ile1637Val NC_000005.10:37017150:A:G p.(Ile1637Val) NC_000005.10:37017150:A:G p.(Ile1637Val) NC_000005.10:37017150:A:G Identity +NM_134444.5:c.157G>A NP_604393.2:p.Glu53Lys NC_000019.10:55852236:G:A p.(Glu53Lys) NC_000019.10:55852236:G:A p.(Glu53Lys) NC_000019.10:55852236:G:A Identity +NM_002511.4:c.380T>C NP_002502.2:p.Val127Ala NC_000006.12:142088278:A:G p.(Val127Ala) NC_000006.12:142088278:A:G p.(Val127Ala) NC_000006.12:142088278:A:G Identity +NM_001018137.3:c.36G>C NP_001018147.1:p.Lys12Asn NC_000017.11:51166865:G:C p.(Lys12Asn) NC_000017.11:51166865:G:C p.(Lys12Asn) NC_000017.11:51166865:G:C Identity +NM_001331026.2:c.1270A>G NP_001317955.1:p.Thr424Ala NC_000005.10:43650532:A:G p.(Thr424Ala) NC_000005.10:43650532:A:G p.(Thr424Ala) NC_000005.10:43650532:A:G Identity +NM_014287.4:c.884A>G NP_055102.3:p.Tyr295Cys NC_000016.10:14853946:A:G p.(Tyr295Cys) NC_000016.10:14853946:A:G p.(Tyr295Cys) NC_000016.10:14853946:A:G Identity +NM_001004060.2:c.2173G>A NP_001004060.1:p.Gly725Ser NC_000016.10:18520864:C:T p.(Gly725Ser) NC_000016.10:18520864:C:T p.(Gly725Ser) NC_000016.10:18520864:C:T Identity +NM_001033714.3:c.2296T>C NP_001028886.1:p.Phe766Leu NC_000012.12:6557123:A:G p.(Phe766Leu) NC_000012.12:6557123:A:G p.(Phe766Leu) NC_000012.12:6557123:A:G Identity +NM_017617.5:c.3022C>A NP_060087.3:p.Leu1008Met NC_000009.12:136509018:G:T p.(Leu1008Met) NC_000009.12:136509018:G:T p.(Leu1008Met) NC_000009.12:136509018:G:T Identity +NM_018958.3:c.1741A>G NP_061831.2:p.Thr581Ala NC_000015.10:24677607:A:G p.(Thr581Ala) NC_000015.10:24677607:A:G p.(Thr581Ala) NC_000015.10:24677607:A:G Identity +NM_001321307.1:c.4037C>G NP_001308236.1:p.Ser1346Cys NC_000011.10:108161069:G:C p.(Ser1346Cys) NC_000011.10:108161069:G:C p.(Ser1346Cys) NC_000011.10:108161069:G:C Identity +NM_001321307.1:c.2792C>A NP_001308236.1:p.Ala931Asp NC_000011.10:108170036:G:T p.(Ala931Asp) NC_000011.10:108170036:G:T p.(Ala931Asp) NC_000011.10:108170036:G:T Identity +NM_018958.3:c.628G>A NP_061831.2:p.Gly210Arg NC_000015.10:24676494:G:A p.(Gly210Arg) NC_000015.10:24676494:G:A p.(Gly210Arg) NC_000015.10:24676494:G:A Identity +NM_001318804.1:c.1154G>A NP_001305733.1:p.Arg385Gln NC_000011.10:66424673:G:A p.(Arg385Gln) NC_000011.10:66424673:G:A p.(Arg385Gln) NC_000011.10:66424673:G:A Identity +NM_001321307.1:c.1165T>A NP_001308236.1:p.Ser389Thr NC_000011.10:108173818:A:T p.(Ser389Thr) NC_000011.10:108173818:A:T p.(Ser389Thr) NC_000011.10:108173818:A:T Identity +NM_001321307.1:c.4012G>C NP_001308236.1:p.Ala1338Pro NC_000011.10:108161094:C:G p.(Ala1338Pro) NC_000011.10:108161094:C:G p.(Ala1338Pro) NC_000011.10:108161094:C:G Identity +NM_001321307.1:c.3373G>A NP_001308236.1:p.Glu1125Lys NC_000011.10:108161733:C:T p.(Glu1125Lys) NC_000011.10:108161733:C:T p.(Glu1125Lys) NC_000011.10:108161733:C:T Identity +NM_001321307.1:c.763A>C NP_001308236.1:p.Ser255Arg NC_000011.10:108185457:T:G p.(Ser255Arg) NC_000011.10:108185457:T:G p.(Ser255Arg) NC_000011.10:108185457:T:G Identity +NM_001321307.1:c.2921C>A NP_001308236.1:p.Thr974Lys NC_000011.10:108169832:G:T p.(Thr974Lys) NC_000011.10:108169832:G:T p.(Thr974Lys) NC_000011.10:108169832:G:T Identity +NM_001321307.1:c.2721G>C NP_001308236.1:p.Gln907His NC_000011.10:108172262:C:G p.(Gln907His) NC_000011.10:108172262:C:G p.(Gln907His) NC_000011.10:108172262:C:G Identity +NM_001291593.2:c.1955G>A NP_001278522.1:p.Gly652Asp NC_000001.11:5867093:C:T p.(Gly652Asp) NC_000001.11:5867093:C:T p.(Gly652Asp) NC_000001.11:5867093:C:T Identity +NM_001369698.1:c.916C>T NP_001356627.1:p.Arg306Trp NC_000017.11:81600345:G:A p.(Arg306Trp) NC_000017.11:81600345:G:A p.(Arg306Trp) NC_000017.11:81600345:G:A Identity +NM_000910.4:c.871G>A NP_000901.1:p.Val291Ile NC_000004.12:155214809:G:A p.(Val291Ile) NC_000004.12:155214809:G:A p.(Val291Ile) NC_000004.12:155214809:G:A Identity +NM_022146.5:c.712C>A NP_071429.1:p.Arg238Ser NC_000010.11:70255537:G:T p.(Arg238Ser) NC_000010.11:70255537:G:T p.(Arg238Ser) NC_000010.11:70255537:G:T Identity +NM_000176.3:c.415C>T NP_000167.1:p.Pro139Ser NC_000005.10:143400424:G:A p.(Pro139Ser) NC_000005.10:143400424:G:A p.(Pro139Ser) NC_000005.10:143400424:G:A Identity +NM_001037132.4:c.25A>G NP_001032209.1:p.Lys9Glu NC_000007.14:108240039:T:C p.(Lys9Glu) NC_000007.14:108240039:T:C p.(Lys9Glu) NC_000007.14:108240039:T:C Identity +NM_001184935.2:c.836G>A NP_001171864.1:p.Arg279His NC_000005.10:139887375:C:T p.(Arg279His) NC_000005.10:139887375:C:T p.(Arg279His) NC_000005.10:139887375:C:T Identity +NM_000906.4:c.1147C>T NP_000897.3:p.Arg383Trp NC_000001.11:153681814:C:T p.(Arg383Trp) NC_000001.11:153681814:C:T p.(Arg383Trp) NC_000001.11:153681814:C:T Identity +NM_001291593.2:c.457G>C NP_001278522.1:p.Val153Leu NC_000001.11:5904763:C:G p.(Val153Leu) NC_000001.11:5904763:C:G p.(Val153Leu) NC_000001.11:5904763:C:G Identity +NM_001161363.2:c.734G>A NP_001154835.1:p.Arg245Gln NC_000015.10:73573767:C:T p.(Arg245Gln) NC_000015.10:73573767:C:T p.(Arg245Gln) NC_000015.10:73573767:C:T Identity +NM_000901.5:c.2341G>A NP_000892.2:p.Val781Met NC_000004.12:148154574:C:T p.(Val781Met) NC_000004.12:148154574:C:T p.(Val781Met) NC_000004.12:148154574:C:T Identity +NM_001037132.4:c.3215A>G NP_001032209.1:p.Asn1072Ser NC_000007.14:108168374:T:C p.(Asn1072Ser) NC_000007.14:108168374:T:C p.(Asn1072Ser) NC_000007.14:108168374:T:C Identity +NM_017970.4:c.545G>C NP_060440.2:p.Gly182Ala NC_000014.9:90312405:C:G p.(Gly182Ala) NC_000014.9:90312405:C:G p.(Gly182Ala) NC_000014.9:90312405:C:G Identity +NM_017970.4:c.1787G>A NP_060440.2:p.Arg596His NC_000014.9:90292751:C:T p.(Arg596His) NC_000014.9:90292751:C:T p.(Arg596His) NC_000014.9:90292751:C:T Identity +NM_003872.3:c.1064G>A NP_003863.2:p.Gly355Asp NC_000002.12:205727963:G:A p.(Gly355Asp) NC_000002.12:205727963:G:A p.(Gly355Asp) NC_000002.12:205727963:G:A Identity +NM_001365684.2:c.7015G>A NP_001352613.2:p.Ala2339Thr NC_000005.10:177295255:G:A p.(Ala2339Thr) NC_000005.10:177295255:G:A p.(Ala2339Thr) NC_000005.10:177295255:G:A Identity +NM_001037132.4:c.1264G>C NP_001032209.1:p.Val422Leu NC_000007.14:108198042:C:G p.(Val422Leu) NC_000007.14:108198042:C:G p.(Val422Leu) NC_000007.14:108198042:C:G Identity +NM_017970.4:c.919C>G NP_060440.2:p.Leu307Val NC_000014.9:90304020:G:C p.(Leu307Val) NC_000014.9:90304020:G:C p.(Leu307Val) NC_000014.9:90304020:G:C Identity +NM_001261463.2:c.567C>A NP_001248392.1:p.Ser189Arg NC_000010.11:113652937:G:T p.(Ser189Arg) NC_000010.11:113652937:G:T p.(Ser189Arg) NC_000010.11:113652937:G:T Identity +NM_001261463.2:c.56T>A NP_001248392.1:p.Ile19Asn NC_000010.11:113663826:A:T p.(Ile19Asn) NC_000010.11:113663826:A:T p.(Ile19Asn) NC_000010.11:113663826:A:T Identity +NM_001184935.2:c.1520C>T NP_001171864.1:p.Ala507Val NC_000005.10:139851657:G:A p.(Ala507Val) NC_000005.10:139851657:G:A p.(Ala507Val) NC_000005.10:139851657:G:A Identity +NM_003872.3:c.2128C>T NP_003863.2:p.Pro710Ser NC_000002.12:205763756:C:T p.(Pro710Ser) NC_000002.12:205763756:C:T p.(Pro710Ser) NC_000002.12:205763756:C:T Identity +NM_198565.3:c.511C>T NP_940967.1:p.Arg171Trp NC_000003.12:196660153:C:T p.(Arg171Trp) NC_000003.12:196660153:C:T p.(Arg171Trp) NC_000003.12:196660153:C:T Identity +NM_001330195.2:c.1259C>G NP_001317124.1:p.Ser420Cys NC_000014.9:78709253:C:G p.(Ser420Cys) NC_000014.9:78709253:C:G p.(Ser420Cys) NC_000014.9:78709253:C:G Identity +NM_015980.5:c.23C>G NP_057064.1:p.Pro8Arg NC_000005.10:174046777:C:G p.(Pro8Arg) NC_000005.10:174046777:C:G p.(Pro8Arg) NC_000005.10:174046777:C:G Identity +NM_001387265.1:c.7G>A NP_001374194.1:p.Ala3Thr NC_000001.11:46340832:G:A p.(Ala3Thr) NC_000001.11:46340832:G:A p.(Ala3Thr) NC_000001.11:46340832:G:A Identity +NM_001002009.3:c.658A>G NP_001002009.1:p.Asn220Asp NC_000007.14:33015803:T:C p.(Asn220Asp) NC_000007.14:33015803:T:C p.(Asn220Asp) NC_000007.14:33015803:T:C Identity +NM_015080.4:c.4627G>T NP_055895.1:p.Ala1543Ser NC_000011.10:64607707:C:A p.(Ala1543Ser) NC_000011.10:64607707:C:A p.(Ala1543Ser) NC_000011.10:64607707:C:A Identity +NM_001042424.3:c.2174C>T NP_001035889.1:p.Thr725Ile NC_000004.12:1953359:C:T p.(Thr725Ile) NC_000004.12:1953359:C:T p.(Thr725Ile) NC_000004.12:1953359:C:T Identity +NM_023034.2:c.4235C>T NP_075447.1:p.Ala1412Val NC_000008.11:38275719:G:A p.(Ala1412Val) NC_000008.11:38275719:G:A p.(Ala1412Val) NC_000008.11:38275719:G:A Identity +NM_003489.4:c.628C>G NP_003480.2:p.Leu210Val NC_000021.9:14967564:G:C p.(Leu210Val) NC_000021.9:14967564:G:C p.(Leu210Val) NC_000021.9:14967564:G:C Identity +NM_031474.3:c.547C>T NP_113662.1:p.Arg183Trp NC_000012.12:2828362:G:A p.(Arg183Trp) NC_000012.12:2828362:G:A p.(Arg183Trp) NC_000012.12:2828362:G:A Identity +NM_001024628.3:c.508A>G NP_001019799.2:p.Ser170Gly NC_000010.11:33263795:T:C p.(Ser170Gly) NC_000010.11:33263795:T:C p.(Ser170Gly) NC_000010.11:33263795:T:C Identity +NM_001330195.2:c.1739T>C NP_001317124.1:p.Met580Thr NC_000014.9:78714833:T:C p.(Met580Thr) NC_000014.9:78714833:T:C p.(Met580Thr) NC_000014.9:78714833:T:C Identity +NM_001330195.2:c.1741T>C NP_001317124.1:p.Tyr581His NC_000014.9:78714835:T:C p.(Tyr581His) NC_000014.9:78714835:T:C p.(Tyr581His) NC_000014.9:78714835:T:C Identity +NM_006181.3:c.829C>T NP_006172.1:p.Arg277Trp NC_000016.10:2472529:C:T p.(Arg277Trp) NC_000016.10:2472529:C:T p.(Arg277Trp) NC_000016.10:2472529:C:T Identity +NM_001329700.2:c.89G>A NP_001316629.1:p.Cys30Tyr NC_000012.12:95787434:C:T p.(Cys30Tyr) NC_000012.12:95787434:C:T p.(Cys30Tyr) NC_000012.12:95787434:C:T Identity +NM_001007097.3:c.250G>A NP_001007098.1:p.Glu84Lys NC_000009.12:84702195:G:A p.(Glu84Lys) NC_000009.12:84702195:G:A p.(Glu84Lys) NC_000009.12:84702195:G:A Identity +NM_006600.4:c.245G>A NP_006591.1:p.Arg82Gln NC_000001.11:26941541:G:A p.(Arg82Gln) NC_000001.11:26941541:G:A p.(Arg82Gln) NC_000001.11:26941541:G:A Identity +NM_000038.6:c.5498G>A NP_000029.2:p.Arg1833Lys NC_000005.10:112841091:G:A p.(Arg1833Lys) NC_000005.10:112841091:G:A p.(Arg1833Lys) NC_000005.10:112841091:G:A Identity +NM_152729.3:c.629A>T NP_689942.2:p.Asn210Ile NC_000006.12:116221152:A:T p.(Asn210Ile) NC_000006.12:116221152:A:T p.(Asn210Ile) NC_000006.12:116221152:A:T Identity +NM_001318193.2:c.10T>A NP_001305122.2:p.Leu4Met NC_000016.10:2047813:A:T p.(Leu4Met) NC_000016.10:2047813:A:T p.(Leu4Met) NC_000016.10:2047813:A:T Identity +NM_015471.4:c.560C>A NP_056286.3:p.Ala187Asp NC_000001.11:212739540:G:T p.(Ala187Asp) NC_000001.11:212739540:G:T p.(Ala187Asp) NC_000001.11:212739540:G:T Identity +NM_001252377.2:c.317A>G NP_001239306.1:p.His106Arg NC_000017.11:75131063:T:C p.(His106Arg) NC_000017.11:75131063:T:C p.(His106Arg) NC_000017.11:75131063:T:C Identity +NM_001134231.2:c.95C>G NP_001127703.1:p.Pro32Arg NC_000003.12:52533642:G:C p.(Pro32Arg) NC_000003.12:52533642:G:C p.(Pro32Arg) NC_000003.12:52533642:G:C Identity +NM_001318193.2:c.722G>A NP_001305122.2:p.Cys241Tyr NC_000016.10:2039945:C:T p.(Cys241Tyr) NC_000016.10:2039945:C:T p.(Cys241Tyr) NC_000016.10:2039945:C:T Identity +NM_024677.6:c.1929G>T NP_078953.4:p.Met643Ile NC_000004.12:40808710:G:T p.(Met643Ile) NC_000004.12:40808710:G:T p.(Met643Ile) NC_000004.12:40808710:G:T Identity +NM_001031701.3:c.148G>A NP_001026871.1:p.Ala50Thr NC_000012.12:103841008:C:T p.(Ala50Thr) NC_000012.12:103841008:C:T p.(Ala50Thr) NC_000012.12:103841008:C:T Identity +NM_001283024.1:c.2T>C NP_001269953.1:p.Met1Thr NC_000008.11:123428021:T:C p.(Met1Thr) NC_000008.11:123428021:T:C p.Met1? NC_000008.11:123428021:T:C Identity +NM_020772.3:c.532G>C NP_065823.1:p.Val178Leu NC_000017.11:29287461:C:G p.(Val178Leu) NC_000017.11:29287461:C:G p.(Val178Leu) NC_000017.11:29287461:C:G Identity +NM_001286561.2:c.4288A>G NP_001273490.1:p.Lys1430Glu NC_000011.10:72013214:T:C p.(Lys1430Glu) NC_000011.10:72013214:T:C p.(Lys1430Glu) NC_000011.10:72013214:T:C Identity +NM_001286561.2:c.604G>C NP_001273490.1:p.Ala202Pro NC_000011.10:72018960:C:G p.(Ala202Pro) NC_000011.10:72018960:C:G p.(Ala202Pro) NC_000011.10:72018960:C:G Identity +NM_001278209.2:c.2933G>T NP_001265138.1:p.Ser978Ile NC_000006.12:17629358:C:A p.(Ser978Ile) NC_000006.12:17629358:C:A p.(Ser978Ile) NC_000006.12:17629358:C:A Identity +NM_015354.3:c.2557G>A NP_056169.1:p.Ala853Thr NC_000009.12:128990142:G:A p.(Ala853Thr) NC_000009.12:128990142:G:A p.(Ala853Thr) NC_000009.12:128990142:G:A Identity +NM_001329434.2:c.3806G>T NP_001316363.2:p.Cys1269Phe NC_000007.14:135628058:G:T p.(Cys1269Phe) NC_000007.14:135628058:G:T p.(Cys1269Phe) NC_000007.14:135628058:G:T Identity +NM_006181.3:c.788G>A NP_006172.1:p.Arg263Gln NC_000016.10:2472488:G:A p.(Arg263Gln) NC_000016.10:2472488:G:A p.(Arg263Gln) NC_000016.10:2472488:G:A Identity +NM_002531.3:c.932C>T NP_002522.2:p.Ala311Val NC_000020.11:62758280:C:T p.(Ala311Val) NC_000020.11:62758280:C:T p.(Ala311Val) NC_000020.11:62758280:C:T Identity +NM_032536.4:c.1052G>T NP_115925.2:p.Gly351Val NC_000009.12:132230592:G:T p.(Gly351Val) NC_000009.12:132230592:G:T p.(Gly351Val) NC_000009.12:132230592:G:T Identity +NM_001283014.2:c.593T>C NP_001269943.1:p.Ile198Thr NC_000010.11:73130703:T:C p.(Ile198Thr) NC_000010.11:73130703:T:C p.(Ile198Thr) NC_000010.11:73130703:T:C Identity +NM_001243750.2:c.146A>C NP_001230679.1:p.Tyr49Ser NC_000011.10:67629765:T:G p.(Tyr49Ser) NC_000011.10:67629765:T:G p.(Tyr49Ser) NC_000011.10:67629765:T:G Identity +NM_198887.3:c.166G>A NP_942590.1:p.Asp56Asn NC_000006.12:149746016:C:T p.(Asp56Asn) NC_000006.12:149746016:C:T p.(Asp56Asn) NC_000006.12:149746016:C:T Identity +NM_001320653.2:c.574A>G NP_001307582.1:p.Thr192Ala NC_000017.11:5414027:T:C p.(Thr192Ala) NC_000017.11:5414027:T:C p.(Thr192Ala) NC_000017.11:5414027:T:C Identity +NM_001365125.2:c.143C>A NP_001352054.1:p.Thr48Asn NC_000011.10:3779190:G:T p.(Thr48Asn) NC_000011.10:3779190:G:T p.(Thr48Asn) NC_000011.10:3779190:G:T Identity +NM_020772.3:c.982G>A NP_065823.1:p.Ala328Thr NC_000017.11:29287011:C:T p.(Ala328Thr) NC_000017.11:29287011:C:T p.(Ala328Thr) NC_000017.11:29287011:C:T Identity +NM_020772.3:c.58C>T NP_065823.1:p.His20Tyr NC_000017.11:29294001:G:A p.(His20Tyr) NC_000017.11:29294001:G:A p.(His20Tyr) NC_000017.11:29294001:G:A Identity +NM_001330192.2:c.112A>C NP_001317121.1:p.Ser38Arg NC_000012.12:68690641:A:C p.(Ser38Arg) NC_000012.12:68690641:A:C p.(Ser38Arg) NC_000012.12:68690641:A:C Identity +NM_001010906.2:c.2167G>C NP_001010906.1:p.Glu723Gln NC_000008.11:28027039:C:G p.(Glu723Gln) NC_000008.11:28027039:C:G p.(Glu723Gln) NC_000008.11:28027039:C:G Identity +NM_018230.3:c.2660G>A NP_060700.2:p.Arg887His NC_000001.11:229463567:C:T p.(Arg887His) NC_000001.11:229463567:C:T p.(Arg887His) NC_000001.11:229463567:C:T Identity +NM_001278209.2:c.229C>T NP_001265138.1:p.Arg77Cys NC_000006.12:17688500:G:A p.(Arg77Cys) NC_000006.12:17688500:G:A p.(Arg77Cys) NC_000006.12:17688500:G:A Identity +NM_001278209.2:c.4103A>G NP_001265138.1:p.Asn1368Ser NC_000006.12:17624724:T:C p.(Asn1368Ser) NC_000006.12:17624724:T:C p.(Asn1368Ser) NC_000006.12:17624724:T:C Identity +NM_001278312.2:c.557G>A NP_001265241.1:p.Gly186Asp NC_000005.10:37351355:C:T p.(Gly186Asp) NC_000005.10:37351355:C:T p.(Gly186Asp) NC_000005.10:37351355:C:T Identity +NM_001278312.2:c.2179T>A NP_001265241.1:p.Phe727Ile NC_000005.10:37324019:A:T p.(Phe727Ile) NC_000005.10:37324019:A:T p.(Phe727Ile) NC_000005.10:37324019:A:T Identity +NM_015354.3:c.2953A>G NP_056169.1:p.Ile985Val NC_000009.12:128993629:A:G p.(Ile985Val) NC_000009.12:128993629:A:G p.(Ile985Val) NC_000009.12:128993629:A:G Identity +NM_001243142.2:c.1096C>G NP_001230071.1:p.Leu366Val NC_000015.10:41375806:C:G p.(Leu366Val) NC_000015.10:41375806:C:G p.(Leu366Val) NC_000015.10:41375806:C:G Identity +NM_001099686.3:c.679G>A NP_001093156.1:p.Val227Ile NC_000023.11:102368575:C:T p.(Val227Ile) NC_000023.11:102368575:C:T p.(Val227Ile) NC_000023.11:102368575:C:T Identity +NM_001348990.2:c.1390C>T NP_001335919.1:p.Arg464Cys NC_000003.12:101821663:C:T p.(Arg464Cys) NC_000003.12:101821663:C:T p.(Arg464Cys) NC_000003.12:101821663:C:T Identity +NM_001077639.2:c.1331T>C NP_001071107.1:p.Ile444Thr NC_000011.10:114571241:A:G p.(Ile444Thr) NC_000011.10:114571241:A:G p.(Ile444Thr) NC_000011.10:114571241:A:G Identity +NM_001278209.2:c.4273G>C NP_001265138.1:p.Ala1425Pro NC_000006.12:17616689:C:G p.(Ala1425Pro) NC_000006.12:17616689:C:G p.(Ala1425Pro) NC_000006.12:17616689:C:G Identity +NM_001278312.2:c.2155G>C NP_001265241.1:p.Glu719Gln NC_000005.10:37324043:C:G p.(Glu719Gln) NC_000005.10:37324043:C:G p.(Glu719Gln) NC_000005.10:37324043:C:G Identity +NM_001278312.2:c.1067G>A NP_001265241.1:p.Cys356Tyr NC_000005.10:37342574:C:T p.(Cys356Tyr) NC_000005.10:37342574:C:T p.(Cys356Tyr) NC_000005.10:37342574:C:T Identity +NM_001098623.2:c.12130G>T NP_001092093.2:p.Asp4044Tyr NC_000001.11:228307103:G:T p.(Asp4044Tyr) NC_000001.11:228307103:G:T p.(Asp4044Tyr) NC_000001.11:228307103:G:T Identity +NM_052843.4:c.19627C>A NP_443075.3:p.Gln6543Lys NC_000001.11:228360518:C:A p.(Gln6543Lys) NC_000001.11:228360518:C:A p.(Gln6543Lys) NC_000001.11:228360518:C:A Identity +NM_001098623.2:c.15214G>T NP_001092093.2:p.Val5072Leu NC_000001.11:228322054:G:T p.(Val5072Leu) NC_000001.11:228322054:G:T p.(Val5072Leu) NC_000001.11:228322054:G:T Identity +NM_001098623.2:c.6239T>G NP_001092093.2:p.Val2080Gly NC_000001.11:228276467:T:G p.(Val2080Gly) NC_000001.11:228276467:T:G p.(Val2080Gly) NC_000001.11:228276467:T:G Identity +NM_001098623.2:c.12553G>T NP_001092093.2:p.Ala4185Ser NC_000001.11:228308196:G:T p.(Ala4185Ser) NC_000001.11:228308196:G:T p.(Ala4185Ser) NC_000001.11:228308196:G:T Identity +NM_001098623.2:c.15709A>G NP_001092093.2:p.Ser5237Gly NC_000001.11:228332915:A:G p.(Ser5237Gly) NC_000001.11:228332915:A:G p.(Ser5237Gly) NC_000001.11:228332915:A:G Identity +NM_022052.2:c.1180T>C NP_071335.1:p.Phe394Leu NC_000023.11:103079622:A:G p.(Phe394Leu) NC_000023.11:103079622:A:G p.(Phe394Leu) NC_000023.11:103079622:A:G Identity +NM_025081.3:c.3770G>A NP_079357.2:p.Arg1257Gln NC_000014.9:24415518:G:A p.(Arg1257Gln) NC_000014.9:24415518:G:A p.(Arg1257Gln) NC_000014.9:24415518:G:A Identity +NM_001320653.2:c.1705G>A NP_001307582.1:p.Asp569Asn NC_000017.11:5387890:C:T p.(Asp569Asn) NC_000017.11:5387890:C:T p.(Asp569Asn) NC_000017.11:5387890:C:T Identity +NM_138459.5:c.470A>G NP_612468.1:p.Gln157Arg NC_000006.12:117693095:A:G p.(Gln157Arg) NC_000006.12:117693095:A:G p.(Gln157Arg) NC_000006.12:117693095:A:G Identity +NM_001098623.2:c.17862C>G NP_001092093.2:p.Ser5954Arg NC_000001.11:228341441:C:G p.(Ser5954Arg) NC_000001.11:228341441:C:G p.(Ser5954Arg) NC_000001.11:228341441:C:G Identity +NM_001410984.1:c.1328G>A NP_001397913.1:p.Arg443His NC_000012.12:112949158:G:A p.(Arg443His) NC_000012.12:112949158:G:A p.(Arg443His) NC_000012.12:112949158:G:A Identity +NM_024546.4:c.989G>A NP_078822.3:p.Ser330Asn NC_000013.11:78616771:C:T p.(Ser330Asn) NC_000013.11:78616771:C:T p.(Ser330Asn) NC_000013.11:78616771:C:T Identity +NM_001098623.2:c.6719A>G NP_001092093.2:p.His2240Arg NC_000001.11:228277277:A:G p.(His2240Arg) NC_000001.11:228277277:A:G p.(His2240Arg) NC_000001.11:228277277:A:G Identity +NM_001098623.2:c.2612G>A NP_001092093.2:p.Arg871His NC_000001.11:228217246:G:A p.(Arg871His) NC_000001.11:228217246:G:A p.(Arg871His) NC_000001.11:228217246:G:A Identity +NM_001098623.2:c.15359T>C NP_001092093.2:p.Leu5120Pro NC_000001.11:228322199:T:C p.(Leu5120Pro) NC_000001.11:228322199:T:C p.(Leu5120Pro) NC_000001.11:228322199:T:C Identity +NM_001098623.2:c.10787G>A NP_001092093.2:p.Arg3596His NC_000001.11:228292705:G:A p.(Arg3596His) NC_000001.11:228292705:G:A p.(Arg3596His) NC_000001.11:228292705:G:A Identity +NM_001302453.1:c.562C>G NP_001289382.1:p.Leu188Val NC_000019.10:11426561:G:C p.(Leu188Val) NC_000019.10:11426561:G:C p.(Leu188Val) NC_000019.10:11426561:G:C Identity +NM_001378477.3:c.455A>G NP_001365406.2:p.Glu152Gly NC_000023.11:41473922:A:G p.(Glu152Gly) NC_000023.11:41473922:A:G p.(Glu152Gly) NC_000023.11:41473922:A:G Identity +NM_001098623.2:c.14280G>T NP_001092093.2:p.Glu4760Asp NC_000001.11:228319031:G:T p.(Glu4760Asp) NC_000001.11:228319031:G:T p.(Glu4760Asp) NC_000001.11:228319031:G:T Identity +NM_001098623.2:c.22684T>A NP_001092093.2:p.Cys7562Ser NC_000001.11:228375721:T:A p.(Cys7562Ser) NC_000001.11:228375721:T:A p.(Cys7562Ser) NC_000001.11:228375721:T:A Identity +NM_001173408.2:c.2588G>A NP_001166879.1:p.Arg863His NC_000002.12:219563446:C:T p.(Arg863His) NC_000002.12:219563446:C:T p.(Arg863His) NC_000002.12:219563446:C:T Identity +NM_001142434.2:c.1508A>G NP_001135906.1:p.Glu503Gly NC_000010.11:101798983:T:C p.(Glu503Gly) NC_000010.11:101798983:T:C p.(Glu503Gly) NC_000010.11:101798983:T:C Identity +NM_001098623.2:c.17114A>T NP_001092093.2:p.Glu5705Val NC_000001.11:228338881:A:T p.(Glu5705Val) NC_000001.11:228338881:A:T p.(Glu5705Val) NC_000001.11:228338881:A:T Identity +NM_052843.4:c.19511T>C NP_443075.3:p.Ile6504Thr NC_000001.11:228360402:T:C p.(Ile6504Thr) NC_000001.11:228360402:T:C p.(Ile6504Thr) NC_000001.11:228360402:T:C Identity +NM_001304347.2:c.442G>T NP_001291276.1:p.Asp148Tyr NC_000019.10:9857472:C:A p.(Asp148Tyr) NC_000019.10:9857472:C:A p.(Asp148Tyr) NC_000019.10:9857472:C:A Identity +NM_001297713.2:c.211G>C NP_001284642.1:p.Glu71Gln NC_000001.11:162020145:C:G p.(Glu71Gln) NC_000001.11:162020145:C:G p.(Glu71Gln) NC_000001.11:162020145:C:G Identity +NM_001286352.3:c.970C>T NP_001273281.1:p.Arg324Cys NC_000001.11:113981577:C:T p.(Arg324Cys) NC_000001.11:113981577:C:T p.(Arg324Cys) NC_000001.11:113981577:C:T Identity +NM_001080488.2:c.370T>C NP_001073957.1:p.Phe124Leu NC_000019.10:1754031:T:C p.(Phe124Leu) NC_000019.10:1754031:T:C p.(Phe124Leu) NC_000019.10:1754031:T:C Identity +NM_002547.3:c.635G>T NP_002538.1:p.Ser212Ile NC_000023.11:68212174:C:A p.(Ser212Ile) NC_000023.11:68212174:C:A p.(Ser212Ile) NC_000023.11:68212174:C:A Identity +NM_001080399.3:c.766G>T NP_001073868.2:p.Ala256Ser NC_000008.11:132033131:C:A p.(Ala256Ser) NC_000008.11:132033131:C:A p.(Ala256Ser) NC_000008.11:132033131:C:A Identity +NM_001080399.3:c.88C>G NP_001073868.2:p.Pro30Ala NC_000008.11:132045841:G:C p.(Pro30Ala) NC_000008.11:132045841:G:C p.(Pro30Ala) NC_000008.11:132045841:G:C Identity +NM_024578.3:c.449A>C NP_078854.1:p.Glu150Ala NC_000019.10:17227195:A:C p.(Glu150Ala) NC_000019.10:17227195:A:C p.(Glu150Ala) NC_000019.10:17227195:A:C Identity +NM_001005466.2:c.829G>A NP_001005466.2:p.Ala277Thr NC_000014.9:21634013:C:T p.(Ala277Thr) NC_000014.9:21634013:C:T p.(Ala277Thr) NC_000014.9:21634013:C:T Identity +NM_001004465.1:c.77C>T NP_001004465.1:p.Pro26Leu NC_000019.10:15949083:C:T p.(Pro26Leu) NC_000019.10:15949083:C:T p.(Pro26Leu) NC_000019.10:15949083:C:T Identity +NM_000276.4:c.586A>G NP_000267.2:p.Asn196Asp NC_000023.11:129558864:A:G p.(Asn196Asp) NC_000023.11:129558864:A:G p.(Asn196Asp) NC_000023.11:129558864:A:G Identity +NM_007346.4:c.533A>G NP_031372.2:p.Tyr178Cys NC_000020.11:62811528:A:G p.(Tyr178Cys) NC_000020.11:62811528:A:G p.(Tyr178Cys) NC_000020.11:62811528:A:G Identity +NM_014057.5:c.479A>G NP_054776.1:p.Asp160Gly NC_000009.12:92390004:T:C p.(Asp160Gly) NC_000009.12:92390004:T:C p.(Asp160Gly) NC_000009.12:92390004:T:C Identity +NM_001394828.1:c.862C>T NP_001381757.1:p.Pro288Ser NC_000006.12:29426779:G:A p.(Pro288Ser) NC_000006.12:29426779:G:A p.(Pro288Ser) NC_000006.12:29426779:G:A Identity +NM_173801.5:c.433G>A NP_776162.2:p.Ala145Thr NC_000011.10:60047028:G:A p.(Ala145Thr) NC_000011.10:60047028:G:A p.(Ala145Thr) NC_000011.10:60047028:G:A Identity +NM_000513.2:c.1046G>C NP_000504.1:p.Ser349Thr NC_000023.11:154195990:G:C p.(Ser349Thr) NC_000023.11:154195990:G:C p.(Ser349Thr) NC_000023.11:154195990:G:C Identity +NM_001080488.2:c.388G>A NP_001073957.1:p.Ala130Thr NC_000019.10:1754049:G:A p.(Ala130Thr) NC_000019.10:1754049:G:A p.(Ala130Thr) NC_000019.10:1754049:G:A Identity +NM_017570.5:c.2170G>A NP_060040.1:p.Glu724Lys NC_000008.11:144055865:C:T p.(Glu724Lys) NC_000008.11:144055865:C:T p.(Glu724Lys) NC_000008.11:144055865:C:T Identity +NM_014322.3:c.733A>G NP_055137.2:p.Lys245Glu NC_000001.11:241597957:T:C p.(Lys245Glu) NC_000001.11:241597957:T:C p.(Lys245Glu) NC_000001.11:241597957:T:C Identity +NM_000914.5:c.40A>T NP_000905.3:p.Thr14Ser NC_000006.12:154039583:A:T p.(Thr14Ser) NC_000006.12:154039583:A:T p.(Thr14Ser) NC_000006.12:154039583:A:T Identity +NM_001008211.1:c.439G>C NP_001008212.1:p.Val147Leu NC_000010.11:13112521:G:C p.(Val147Leu) NC_000010.11:13112521:G:C p.(Val147Leu) NC_000010.11:13112521:G:C Identity +NM_001013354.1:c.880G>A NP_001013372.1:p.Ala294Thr NC_000014.9:18601995:G:A p.(Ala294Thr) NC_000014.9:18601995:G:A p.(Ala294Thr) NC_000014.9:18601995:G:A Identity +NM_001197287.2:c.871C>T NP_001184216.2:p.Pro291Ser NC_000014.9:19713012:G:A p.(Pro291Ser) NC_000014.9:19713012:G:A p.(Pro291Ser) NC_000014.9:19713012:G:A Identity +NM_030946.2:c.509G>C NP_112208.1:p.Arg170Thr NC_000006.12:29307197:G:C p.(Arg170Thr) NC_000006.12:29307197:G:C p.(Arg170Thr) NC_000006.12:29307197:G:C Identity +NM_003554.2:c.481A>T NP_003545.1:p.Thr161Ser NC_000017.11:3433360:T:A p.(Thr161Ser) NC_000017.11:3433360:T:A p.(Thr161Ser) NC_000017.11:3433360:T:A Identity +NM_001004459.2:c.280T>G NP_001004459.2:p.Tyr94Asp NC_000011.10:58203862:A:C p.(Tyr94Asp) NC_000011.10:58203862:A:C p.(Tyr94Asp) NC_000011.10:58203862:A:C Identity +NM_001005285.2:c.401C>T NP_001005285.1:p.Pro134Leu NC_000011.10:75089312:G:A p.(Pro134Leu) NC_000011.10:75089312:G:A p.(Pro134Leu) NC_000011.10:75089312:G:A Identity +NM_001004461.2:c.195C>A NP_001004461.1:p.Asn65Lys NC_000011.10:7928467:G:T p.(Asn65Lys) NC_000011.10:7928467:G:T p.(Asn65Lys) NC_000011.10:7928467:G:T Identity +NM_001004466.2:c.632G>A NP_001004466.1:p.Cys211Tyr NC_000019.10:15794679:G:A p.(Cys211Tyr) NC_000019.10:15794679:G:A p.(Cys211Tyr) NC_000019.10:15794679:G:A Identity +NM_001005495.1:c.146T>C NP_001005495.1:p.Leu49Pro NC_000001.11:248473495:T:C p.(Leu49Pro) NC_000001.11:248473495:T:C p.(Leu49Pro) NC_000001.11:248473495:T:C Identity +NM_001004478.2:c.731A>G NP_001004478.1:p.His244Arg NC_000001.11:158607168:A:G p.(His244Arg) NC_000001.11:158607168:A:G p.(His244Arg) NC_000001.11:158607168:A:G Identity +NM_001004483.1:c.303G>T NP_001004483.1:p.Met101Ile NC_000009.12:104569469:G:T p.(Met101Ile) NC_000009.12:104569469:G:T p.(Met101Ile) NC_000009.12:104569469:G:T Identity +NM_014566.1:c.742G>T NP_055381.1:p.Val248Phe NC_000017.11:3062865:C:A p.(Val248Phe) NC_000017.11:3062865:C:A p.(Val248Phe) NC_000017.11:3062865:C:A Identity +NM_001004459.2:c.421G>A NP_001004459.2:p.Gly141Ser NC_000011.10:58203721:C:T p.(Gly141Ser) NC_000011.10:58203721:C:T p.(Gly141Ser) NC_000011.10:58203721:C:T Identity +NM_001004459.2:c.251A>G NP_001004459.2:p.Asn84Ser NC_000011.10:58203891:T:C p.(Asn84Ser) NC_000011.10:58203891:T:C p.(Asn84Ser) NC_000011.10:58203891:T:C Identity +NM_001013355.2:c.275T>G NP_001013373.1:p.Met92Arg NC_000001.11:248521920:T:G p.(Met92Arg) NC_000001.11:248521920:T:G p.(Met92Arg) NC_000001.11:248521920:T:G Identity +NM_001001915.1:c.701C>G NP_001001915.1:p.Ala234Gly NC_000001.11:247589059:C:G p.(Ala234Gly) NC_000001.11:247589059:C:G p.(Ala234Gly) NC_000001.11:247589059:C:G Identity +NM_001005270.4:c.528G>A NP_001005270.3:p.Met176Ile NC_000011.10:49981973:C:T p.(Met176Ile) NC_000011.10:49981973:C:T p.(Met176Ile) NC_000011.10:49981973:C:T Identity +NM_001004458.4:c.347G>C NP_001004458.2:p.Gly116Ala NC_000011.10:58215129:G:C p.(Gly116Ala) NC_000011.10:58215129:G:C p.(Gly116Ala) NC_000011.10:58215129:G:C Identity +NM_001005276.1:c.565T>C NP_001005276.1:p.Cys189Arg NC_000007.14:99876468:A:G p.(Cys189Arg) NC_000007.14:99876468:A:G p.(Cys189Arg) NC_000007.14:99876468:A:G Identity +NM_001001824.2:c.31G>A NP_001001824.1:p.Asp11Asn NC_000001.11:248650853:C:T p.(Asp11Asn) NC_000001.11:248650853:C:T p.(Asp11Asn) NC_000001.11:248650853:C:T Identity +NM_001005274.1:c.34C>T NP_001005274.1:p.Leu12Phe NC_000011.10:55343233:C:T p.(Leu12Phe) NC_000011.10:55343233:C:T p.(Leu12Phe) NC_000011.10:55343233:C:T Identity +NM_001005274.1:c.312A>T NP_001005274.1:p.Leu104Phe NC_000011.10:55343511:A:T p.(Leu104Phe) NC_000011.10:55343511:A:T p.(Leu104Phe) NC_000011.10:55343511:A:T Identity +NM_001004688.2:c.800C>A NP_001004688.1:p.Ser267Tyr NC_000001.11:248180784:C:A p.(Ser267Tyr) NC_000001.11:248180784:C:A p.(Ser267Tyr) NC_000001.11:248180784:C:A Identity +NM_001351298.2:c.30C>G NP_001338227.1:p.Ser10Arg NC_000003.12:184186236:C:G p.(Ser10Arg) NC_000003.12:184186236:C:G p.(Ser10Arg) NC_000003.12:184186236:C:G Identity +NM_001351298.2:c.1433T>C NP_001338227.1:p.Phe478Ser NC_000003.12:184191136:T:C p.(Phe478Ser) NC_000003.12:184191136:T:C p.(Phe478Ser) NC_000003.12:184191136:T:C Identity +NM_001001674.2:c.631T>A NP_001001674.1:p.Phe211Ile NC_000015.10:101818816:T:A p.(Phe211Ile) NC_000015.10:101818816:T:A p.(Phe211Ile) NC_000015.10:101818816:T:A Identity +NM_001005504.1:c.808T>A NP_001005504.1:p.Phe270Ile NC_000008.11:166216:A:T p.(Phe270Ile) NC_000008.11:166216:A:T p.(Phe270Ile) NC_000008.11:166216:A:T Identity +NM_001004724.2:c.448C>T NP_001004724.1:p.Leu150Phe NC_000014.9:20144182:C:T p.(Leu150Phe) NC_000014.9:20144182:C:T p.(Leu150Phe) NC_000014.9:20144182:C:T Identity +NM_033179.2:c.202G>T NP_149419.2:p.Asp68Tyr NC_000011.10:5301744:C:A p.(Asp68Tyr) NC_000011.10:5301744:C:A p.(Asp68Tyr) NC_000011.10:5301744:C:A Identity +NM_030774.4:c.287G>C NP_110401.1:p.Cys96Ser NC_000011.10:4682424:C:G p.(Cys96Ser) NC_000011.10:4682424:C:G p.(Cys96Ser) NC_000011.10:4682424:C:G Identity +NM_001004753.2:c.382A>G NP_001004753.2:p.Ile128Val NC_000011.10:4821802:A:G p.(Ile128Val) NC_000011.10:4821802:A:G p.(Ile128Val) NC_000011.10:4821802:A:G Identity +NM_001004755.2:c.244A>C NP_001004755.1:p.Thr82Pro NC_000011.10:4999225:A:C p.(Thr82Pro) NC_000011.10:4999225:A:C p.(Thr82Pro) NC_000011.10:4999225:A:C Identity +NM_001004760.3:c.835A>G NP_001004760.3:p.Ile279Val NC_000011.10:5199847:T:C p.(Ile279Val) NC_000011.10:5199847:T:C p.(Ile279Val) NC_000011.10:5199847:T:C Identity +NM_001005500.2:c.883G>A NP_001005500.1:p.Glu295Lys NC_000014.9:19781204:G:A p.(Glu295Lys) NC_000014.9:19781204:G:A p.(Glu295Lys) NC_000014.9:19781204:G:A Identity +NM_001004749.2:c.705G>T NP_001004749.1:p.Lys235Asn NC_000011.10:4908073:G:T p.(Lys235Asn) NC_000011.10:4908073:G:T p.(Lys235Asn) NC_000011.10:4908073:G:T Identity +NM_001004755.2:c.183G>A NP_001004755.1:p.Met61Ile NC_000011.10:4999164:G:A p.(Met61Ile) NC_000011.10:4999164:G:A p.(Met61Ile) NC_000011.10:4999164:G:A Identity +NM_001005272.3:c.241G>T NP_001005272.3:p.Val81Leu NC_000011.10:54707124:G:T p.(Val81Leu) NC_000011.10:54707124:G:T p.(Val81Leu) NC_000011.10:54707124:G:T Identity +NM_001004700.3:c.537G>T NP_001004700.2:p.Leu179Phe NC_000011.10:55603836:C:A p.(Leu179Phe) NC_000011.10:55603836:C:A p.(Leu179Phe) NC_000011.10:55603836:C:A Identity +NM_001005171.3:c.275A>G NP_001005171.2:p.Gln92Arg NC_000011.10:4489174:A:G p.(Gln92Arg) NC_000011.10:4489174:A:G p.(Gln92Arg) NC_000011.10:4489174:A:G Identity +NM_001005179.4:c.214C>G NP_001005179.3:p.Leu72Val NC_000011.10:6002778:G:C p.(Leu72Val) NC_000011.10:6002778:G:C p.(Leu72Val) NC_000011.10:6002778:G:C Identity +NM_001005179.4:c.298T>C NP_001005179.3:p.Cys100Arg NC_000011.10:6002694:A:G p.(Cys100Arg) NC_000011.10:6002694:A:G p.(Cys100Arg) NC_000011.10:6002694:A:G Identity +NM_001004728.2:c.415A>G NP_001004728.1:p.Met139Val NC_000011.10:59443582:A:G p.(Met139Val) NC_000011.10:59443582:A:G p.(Met139Val) NC_000011.10:59443582:A:G Identity +NM_001002925.1:c.424G>A NP_001002925.1:p.Val142Met NC_000011.10:56642015:C:T p.(Val142Met) NC_000011.10:56642015:C:T p.(Val142Met) NC_000011.10:56642015:C:T Identity +NM_001004731.3:c.899C>G NP_001004731.2:p.Ala300Gly NC_000014.9:21154973:G:C p.(Ala300Gly) NC_000014.9:21154973:G:C p.(Ala300Gly) NC_000014.9:21154973:G:C Identity +NM_001005162.2:c.693G>C NP_001005162.2:p.Met231Ile NC_000011.10:5581568:G:C p.(Met231Ile) NC_000011.10:5581568:G:C p.(Met231Ile) NC_000011.10:5581568:G:C Identity +NM_001005172.2:c.905G>T NP_001005172.2:p.Arg302Leu NC_000011.10:4450243:G:T p.(Arg302Leu) NC_000011.10:4450243:G:T p.(Arg302Leu) NC_000011.10:4450243:G:T Identity +NM_001001922.2:c.682A>G NP_001001922.2:p.Thr228Ala NC_000011.10:5777952:T:C p.(Thr228Ala) NC_000011.10:5777952:T:C p.(Thr228Ala) NC_000011.10:5777952:T:C Identity +NM_001005181.2:c.500T>C NP_001005181.1:p.Ile167Thr NC_000011.10:6108277:T:C p.(Ile167Thr) NC_000011.10:6108277:T:C p.(Ile167Thr) NC_000011.10:6108277:T:C Identity +NM_001001923.1:c.820A>C NP_001001923.1:p.Thr274Pro NC_000009.12:122789751:A:C p.(Thr274Pro) NC_000009.12:122789751:A:C p.(Thr274Pro) NC_000009.12:122789751:A:C Identity +NM_001005496.1:c.323C>A NP_001005496.1:p.Thr108Asn NC_000011.10:55839073:C:A p.(Thr108Asn) NC_000011.10:55839073:C:A p.(Thr108Asn) NC_000011.10:55839073:C:A Identity +NM_001005338.2:c.697G>T NP_001005338.1:p.Gly233Cys NC_000003.12:98133393:G:T p.(Gly233Cys) NC_000003.12:98133393:G:T p.(Gly233Cys) NC_000003.12:98133393:G:T Identity +NM_153445.2:c.805G>C NP_703146.1:p.Asp269His NC_000011.10:7825167:C:G p.(Asp269His) NC_000011.10:7825167:C:G p.(Asp269His) NC_000011.10:7825167:C:G Identity +NM_003697.1:c.45G>T NP_003688.1:p.Leu15Phe NC_000011.10:55994580:C:A p.(Leu15Phe) NC_000011.10:55994580:C:A p.(Leu15Phe) NC_000011.10:55994580:C:A Identity +NM_001005492.1:c.263T>G NP_001005492.1:p.Val88Gly NC_000011.10:56176879:T:G p.(Val88Gly) NC_000011.10:56176879:T:G p.(Val88Gly) NC_000011.10:56176879:T:G Identity +NM_001004746.4:c.810G>A NP_001004746.2:p.Met270Ile NC_000011.10:56232252:C:T p.(Met270Ile) NC_000011.10:56232252:C:T p.(Met270Ile) NC_000011.10:56232252:C:T Identity +NM_001005567.3:c.303T>A NP_001005567.2:p.Phe101Leu NC_000011.10:5343221:A:T p.(Phe101Leu) NC_000011.10:5343221:A:T p.(Phe101Leu) NC_000011.10:5343221:A:T Identity +NM_001005161.3:c.409A>C NP_001005161.2:p.Ile137Leu NC_000011.10:4367886:T:G p.(Ile137Leu) NC_000011.10:4367886:T:G p.(Ile137Leu) NC_000011.10:4367886:T:G Identity +NM_001005281.3:c.134T>G NP_001005281.1:p.Ile45Ser NC_000007.14:144004129:T:G p.(Ile45Ser) NC_000007.14:144004129:T:G p.(Ile45Ser) NC_000007.14:144004129:T:G Identity +NM_001005853.1:c.679C>A NP_001005853.1:p.Arg227Ser NC_000002.12:240029750:G:T p.(Arg227Ser) NC_000002.12:240029750:G:T p.(Arg227Ser) NC_000002.12:240029750:G:T Identity +NM_001005853.1:c.740T>G NP_001005853.1:p.Val247Gly NC_000002.12:240029689:A:C p.(Val247Gly) NC_000002.12:240029689:A:C p.(Val247Gly) NC_000002.12:240029689:A:C Identity +NM_001005185.2:c.890T>A NP_001005185.1:p.Ile297Asn NC_000001.11:158765792:A:T p.(Ile297Asn) NC_000001.11:158765792:A:T p.(Ile297Asn) NC_000001.11:158765792:A:T Identity +NM_001001667.1:c.172T>C NP_001001667.1:p.Tyr58His NC_000007.14:143052511:T:C p.(Tyr58His) NC_000007.14:143052511:T:C p.(Tyr58His) NC_000007.14:143052511:T:C Identity +NM_001005189.2:c.757G>A NP_001005189.1:p.Val253Ile NC_000001.11:158547348:C:T p.(Val253Ile) NC_000001.11:158547348:C:T p.(Val253Ile) NC_000001.11:158547348:C:T Identity +NM_001005490.2:c.119A>T NP_001005490.1:p.Asn40Ile NC_000012.12:55247405:A:T p.(Asn40Ile) NC_000012.12:55247405:A:T p.(Asn40Ile) NC_000012.12:55247405:A:T Identity +NM_001370480.1:c.330T>G NP_001357409.1:p.Phe110Leu NC_000019.10:14827911:A:C p.(Phe110Leu) NC_000019.10:14827911:A:C p.(Phe110Leu) NC_000019.10:14827911:A:C Identity +NM_001005468.2:c.518T>C NP_001005468.1:p.Ile173Thr NC_000011.10:124382825:A:G p.(Ile173Thr) NC_000011.10:124382825:A:G p.(Ile173Thr) NC_000011.10:124382825:A:G Identity +NM_030876.6:c.946G>A NP_110503.3:p.Asp316Asn NC_000006.12:29355249:C:T p.(Asp316Asn) NC_000006.12:29355249:C:T p.(Asp316Asn) NC_000006.12:29355249:C:T Identity +NM_001005189.2:c.935G>T NP_001005189.1:p.Cys312Phe NC_000001.11:158547170:C:A p.(Cys312Phe) NC_000001.11:158547170:C:A p.(Cys312Phe) NC_000001.11:158547170:C:A Identity +NM_001004729.2:c.176C>T NP_001004729.1:p.Pro59Leu NC_000011.10:59364633:C:T p.(Pro59Leu) NC_000011.10:59364633:C:T p.(Pro59Leu) NC_000011.10:59364633:C:T Identity +NM_001005489.2:c.448G>T NP_001005489.1:p.Gly150Cys NC_000011.10:58358621:C:A p.(Gly150Cys) NC_000011.10:58358621:C:A p.(Gly150Cys) NC_000011.10:58358621:C:A Identity +NM_001005566.3:c.506C>T NP_001005566.1:p.Ser169Phe NC_000011.10:58422755:G:A p.(Ser169Phe) NC_000011.10:58422755:G:A p.(Ser169Phe) NC_000011.10:58422755:G:A Identity +NM_001004064.2:c.848C>T NP_001004064.1:p.Pro283Leu NC_000011.10:56136870:G:A p.(Pro283Leu) NC_000011.10:56136870:G:A p.(Pro283Leu) NC_000011.10:56136870:G:A Identity +NM_001001658.1:c.407C>T NP_001001658.1:p.Thr136Ile NC_000007.14:143026725:G:A p.(Thr136Ile) NC_000007.14:143026725:G:A p.(Thr136Ile) NC_000007.14:143026725:G:A Identity +NM_000038.6:c.2522T>C NP_000029.2:p.Leu841Ser NC_000005.10:112838115:T:C p.(Leu841Ser) NC_000005.10:112838115:T:C p.(Leu841Ser) NC_000005.10:112838115:T:C Identity +NM_001005198.2:c.350C>A NP_001005198.2:p.Ala117Glu NC_000011.10:124265280:C:A p.(Ala117Glu) NC_000011.10:124265280:C:A p.(Ala117Glu) NC_000011.10:124265280:C:A Identity +NM_001003750.1:c.830A>G NP_001003750.1:p.Tyr277Cys NC_000011.10:56094136:A:G p.(Tyr277Cys) NC_000011.10:56094136:A:G p.(Tyr277Cys) NC_000011.10:56094136:A:G Identity +NM_001004744.1:c.494G>A NP_001004744.1:p.Arg165His NC_000011.10:56417738:C:T p.(Arg165His) NC_000011.10:56417738:C:T p.(Arg165His) NC_000011.10:56417738:C:T Identity +NM_000607.4:c.529G>A NP_000598.2:p.Asp177Asn NC_000009.12:114325140:G:A p.(Asp177Asn) NC_000009.12:114325140:G:A p.(Asp177Asn) NC_000009.12:114325140:G:A Identity +NM_001002918.1:c.904A>C NP_001002918.1:p.Lys302Gln NC_000011.10:124319293:T:G p.(Lys302Gln) NC_000011.10:124319293:T:G p.(Lys302Gln) NC_000011.10:124319293:T:G Identity +NM_001004744.1:c.619A>G NP_001004744.1:p.Met207Val NC_000011.10:56417613:T:C p.(Met207Val) NC_000011.10:56417613:T:C p.(Met207Val) NC_000011.10:56417613:T:C Identity +NM_001005212.4:c.331G>A NP_001005212.1:p.Asp111Asn NC_000011.10:58179774:G:A p.(Asp111Asn) NC_000011.10:58179774:G:A p.(Asp111Asn) NC_000011.10:58179774:G:A Identity +NM_001005496.1:c.353C>A NP_001005496.1:p.Ala118Glu NC_000011.10:55839103:C:A p.(Ala118Glu) NC_000011.10:55839103:C:A p.(Ala118Glu) NC_000011.10:55839103:C:A Identity +NM_001004742.3:c.868C>A NP_001004742.2:p.Leu290Met NC_000011.10:56469629:G:T p.(Leu290Met) NC_000011.10:56469629:G:T p.(Leu290Met) NC_000011.10:56469629:G:T Identity +NM_153445.2:c.929T>C NP_703146.1:p.Phe310Ser NC_000011.10:7825043:A:G p.(Phe310Ser) NC_000011.10:7825043:A:G p.(Phe310Ser) NC_000011.10:7825043:A:G Identity +NM_020896.4:c.496G>C NP_065947.1:p.Val166Leu NC_000011.10:3120530:C:G p.(Val166Leu) NC_000011.10:3120530:C:G p.(Val166Leu) NC_000011.10:3120530:C:G Identity +NM_001416292.1:c.193C>T NP_001403221.1:p.Arg65Cys NC_000001.11:51652017:C:T p.(Arg65Cys) NC_000001.11:51652017:C:T p.(Arg65Cys) NC_000001.11:51652017:C:T Identity +NM_001330493.2:c.935G>T NP_001317422.1:p.Ser312Ile NC_000001.11:36420529:C:A p.(Ser312Ile) NC_000001.11:36420529:C:A p.(Ser312Ile) NC_000001.11:36420529:C:A Identity +NM_177998.3:c.202A>C NP_819056.1:p.Ile68Leu NC_000004.12:4226662:T:G p.(Ile68Leu) NC_000004.12:4226662:T:G p.(Ile68Leu) NC_000004.12:4226662:T:G Identity +NM_001003712.2:c.2230C>A NP_001003712.1:p.Pro744Thr NC_000012.12:76358783:G:T p.(Pro744Thr) NC_000012.12:76358783:G:T p.(Pro744Thr) NC_000012.12:76358783:G:T Identity +NM_001005499.1:c.378A>T NP_001005499.1:p.Lys126Asn NC_000012.12:55469760:T:A p.(Lys126Asn) NC_000012.12:55469760:T:A p.(Lys126Asn) NC_000012.12:55469760:T:A Identity +NM_001005490.2:c.98A>T NP_001005490.1:p.Tyr33Phe NC_000012.12:55247384:A:T p.(Tyr33Phe) NC_000012.12:55247384:A:T p.(Tyr33Phe) NC_000012.12:55247384:A:T Identity +NM_001005185.2:c.515A>G NP_001005185.1:p.Asn172Ser NC_000001.11:158766167:T:C p.(Asn172Ser) NC_000001.11:158766167:T:C p.(Asn172Ser) NC_000001.11:158766167:T:C Identity +NM_001005188.1:c.889G>A NP_001005188.1:p.Gly297Arg NC_000011.10:123753629:C:T p.(Gly297Arg) NC_000011.10:123753629:C:T p.(Gly297Arg) NC_000011.10:123753629:C:T Identity +NM_001079935.2:c.946C>G NP_001073404.1:p.Gln316Glu NC_000019.10:9251988:C:G p.(Gln316Glu) NC_000019.10:9251988:C:G p.(Gln316Glu) NC_000019.10:9251988:C:G Identity +NM_012378.2:c.515A>G NP_036510.1:p.Asn172Ser NC_000011.10:124440570:T:C p.(Asn172Ser) NC_000011.10:124440570:T:C p.(Asn172Ser) NC_000011.10:124440570:T:C Identity +NM_001102653.1:c.346G>A NP_001096123.1:p.Val116Ile NC_000004.12:145159590:C:T p.(Val116Ile) NC_000004.12:145159590:C:T p.(Val116Ile) NC_000004.12:145159590:C:T Identity +NM_019018.3:c.386G>A NP_061891.1:p.Cys129Tyr NC_000005.10:14602219:G:A p.(Cys129Tyr) NC_000005.10:14602219:G:A p.(Cys129Tyr) NC_000005.10:14602219:G:A Identity +NM_001382637.1:c.1756G>A NP_001369566.1:p.Ala586Thr NC_000015.10:31484339:C:T p.(Ala586Thr) NC_000015.10:31484339:C:T p.(Ala586Thr) NC_000015.10:31484339:C:T Identity +NM_001351273.1:c.5410C>A NP_001338202.1:p.Pro1804Thr NC_000019.10:1468713:C:A p.(Pro1804Thr) NC_000019.10:1468713:C:A p.(Pro1804Thr) NC_000019.10:1468713:C:A Identity +NM_001005197.2:c.163C>T NP_001005197.1:p.Leu55Phe NC_000011.10:123906593:C:T p.(Leu55Phe) NC_000011.10:123906593:C:T p.(Leu55Phe) NC_000011.10:123906593:C:T Identity +NM_001190879.3:c.161C>G NP_001177808.1:p.Thr54Ser NC_000002.12:147972802:G:C p.(Thr54Ser) NC_000002.12:147972802:G:C p.(Thr54Ser) NC_000002.12:147972802:G:C Identity +NM_000608.4:c.217A>G NP_000599.1:p.Lys73Glu NC_000009.12:114330535:A:G p.(Lys73Glu) NC_000009.12:114330535:A:G p.(Lys73Glu) NC_000009.12:114330535:A:G Identity +NM_017670.3:c.368A>G NP_060140.2:p.Glu123Gly NC_000011.10:63996885:A:G p.(Glu123Gly) NC_000011.10:63996885:A:G p.(Glu123Gly) NC_000011.10:63996885:A:G Identity +NM_023112.4:c.545C>T NP_075601.1:p.Ala182Val NC_000014.9:94045761:C:T p.(Ala182Val) NC_000014.9:94045761:C:T p.(Ala182Val) NC_000014.9:94045761:C:T Identity +NM_001288748.2:c.155G>A NP_001275677.1:p.Arg52Lys NC_000011.10:74311456:C:T p.(Arg52Lys) NC_000011.10:74311456:C:T p.(Arg52Lys) NC_000011.10:74311456:C:T Identity +NM_001080487.4:c.313C>T NP_001073956.2:p.Arg105Trp NC_000016.10:88865883:G:A p.(Arg105Trp) NC_000016.10:88865883:G:A p.(Arg105Trp) NC_000016.10:88865883:G:A Identity +NM_001282738.2:c.916G>A NP_001269667.1:p.Glu306Lys NC_000022.11:30888332:G:A p.(Glu306Lys) NC_000022.11:30888332:G:A p.(Glu306Lys) NC_000022.11:30888332:G:A Identity +NM_145260.3:c.194C>T NP_660303.1:p.Pro65Leu NC_000002.12:19353611:G:A p.(Pro65Leu) NC_000002.12:19353611:G:A p.(Pro65Leu) NC_000002.12:19353611:G:A Identity +NM_148962.5:c.451C>T NP_683765.2:p.Arg151Cys NC_000002.12:42763611:G:A p.(Arg151Cys) NC_000002.12:42763611:G:A p.(Arg151Cys) NC_000002.12:42763611:G:A Identity +NM_002565.4:c.509A>G NP_002556.1:p.Asn170Ser NC_000023.11:70259115:T:C p.(Asn170Ser) NC_000023.11:70259115:T:C p.(Asn170Ser) NC_000023.11:70259115:T:C Identity +NM_012226.5:c.1049A>G NP_036358.2:p.Glu350Gly NC_000012.12:132621820:A:G p.(Glu350Gly) NC_000012.12:132621820:A:G p.(Glu350Gly) NC_000012.12:132621820:A:G Identity +NM_002562.6:c.1352C>G NP_002553.3:p.Pro451Arg NC_000012.12:121184365:C:G p.(Pro451Arg) NC_000012.12:121184365:C:G p.(Pro451Arg) NC_000012.12:121184365:C:G Identity +NM_016233.2:c.560C>G NP_057317.2:p.Thr187Arg NC_000001.11:17267869:C:G p.(Thr187Arg) NC_000001.11:17267869:C:G p.(Thr187Arg) NC_000001.11:17267869:C:G Identity +NM_001014831.3:c.706G>A NP_001014831.1:p.Gly236Ser NC_000019.10:39173617:G:A p.(Gly236Ser) NC_000019.10:39173617:G:A p.(Gly236Ser) NC_000019.10:39173617:G:A Identity +NM_001145373.3:c.1064G>T NP_001138845.1:p.Ser355Ile NC_000010.11:23440520:G:T p.(Ser355Ile) NC_000010.11:23440520:G:T p.(Ser355Ile) NC_000010.11:23440520:G:T Identity +NM_001382637.1:c.1932C>G NP_001369566.1:p.Phe644Leu NC_000015.10:31484163:G:C p.(Phe644Leu) NC_000015.10:31484163:G:C p.(Phe644Leu) NC_000015.10:31484163:G:C Identity +NM_138348.6:c.77C>T NP_612357.4:p.Ala26Val NC_000005.10:14664901:C:T p.(Ala26Val) NC_000005.10:14664901:C:T p.(Ala26Val) NC_000005.10:14664901:C:T Identity +NM_080822.3:c.509C>T NP_543012.1:p.Pro170Leu NC_000017.11:2042928:C:T p.(Pro170Leu) NC_000017.11:2042928:C:T p.(Pro170Leu) NC_000017.11:2042928:C:T Identity +NM_001346194.2:c.374C>T NP_001333123.1:p.Thr125Ile NC_000013.11:96987385:G:A p.(Thr125Ile) NC_000013.11:96987385:G:A p.(Thr125Ile) NC_000013.11:96987385:G:A Identity +NM_001130727.3:c.59A>G NP_001124199.1:p.Tyr20Cys NC_000004.12:20704665:A:G p.(Tyr20Cys) NC_000004.12:20704665:A:G p.(Tyr20Cys) NC_000004.12:20704665:A:G Identity +NM_001128620.2:c.637C>G NP_001122092.1:p.Pro213Ala NC_000011.10:77355802:G:C p.(Pro213Ala) NC_000011.10:77355802:G:C p.(Pro213Ala) NC_000011.10:77355802:G:C Identity +NM_001166108.2:c.590C>A NP_001159580.1:p.Ser197Tyr NC_000004.12:168512093:C:A p.(Ser197Tyr) NC_000004.12:168512093:C:A p.(Ser197Tyr) NC_000004.12:168512093:C:A Identity +NM_001166110.2:c.482T>A NP_001159582.1:p.Leu161Gln NC_000004.12:168878372:T:A p.(Leu161Gln) NC_000004.12:168878372:T:A p.(Leu161Gln) NC_000004.12:168878372:T:A Identity +NM_000277.3:c.1315A>T NP_000268.1:p.Ser439Cys NC_000012.12:102840399:T:A p.(Ser439Cys) NC_000012.12:102840399:T:A p.(Ser439Cys) NC_000012.12:102840399:T:A Identity +NM_001014831.3:c.622T>C NP_001014831.1:p.Tyr208His NC_000019.10:39173334:T:C p.(Tyr208His) NC_000019.10:39173334:T:C p.(Tyr208His) NC_000019.10:39173334:T:C Identity +NM_001407306.1:c.1430A>T NP_001394235.1:p.Asp477Val NC_000016.10:23629838:T:A p.(Asp477Val) NC_000016.10:23629838:T:A p.(Asp477Val) NC_000016.10:23629838:T:A Identity +NM_014431.3:c.1030C>G NP_055246.2:p.Pro344Ala NC_000010.11:70534431:C:G p.(Pro344Ala) NC_000010.11:70534431:C:G p.(Pro344Ala) NC_000010.11:70534431:C:G Identity +NM_015368.4:c.1196T>C NP_056183.2:p.Leu399Pro NC_000011.10:94180251:T:C p.(Leu399Pro) NC_000011.10:94180251:T:C p.(Leu399Pro) NC_000011.10:94180251:T:C Identity +NM_001142276.2:c.1324G>C NP_001135748.1:p.Glu442Gln NC_000011.10:130129074:G:C p.(Glu442Gln) NC_000011.10:130129074:G:C p.(Glu442Gln) NC_000011.10:130129074:G:C Identity +NM_020459.1:c.109A>T NP_065192.1:p.Met37Leu NC_000002.12:71202480:T:A p.(Met37Leu) NC_000002.12:71202480:T:A p.(Met37Leu) NC_000002.12:71202480:T:A Identity +NM_001407296.1:c.2865G>C NP_001394225.1:p.Arg955Ser NC_000016.10:23623039:C:G p.(Arg955Ser) NC_000016.10:23623039:C:G p.(Arg955Ser) NC_000016.10:23623039:C:G Identity +NM_001166110.2:c.166C>A NP_001159582.1:p.Pro56Thr NC_000004.12:168878056:C:A p.(Pro56Thr) NC_000004.12:168878056:C:A p.(Pro56Thr) NC_000004.12:168878056:C:A Identity +NM_017734.5:c.1288A>G NP_060204.1:p.Lys430Glu NC_000001.11:99689547:A:G p.(Lys430Glu) NC_000001.11:99689547:A:G p.(Lys430Glu) NC_000001.11:99689547:A:G Identity +NM_001128628.3:c.550G>A NP_001122100.1:p.Glu184Lys NC_000015.10:40266186:G:A p.(Glu184Lys) NC_000015.10:40266186:G:A p.(Glu184Lys) NC_000015.10:40266186:G:A Identity +NM_001407296.1:c.2099C>T NP_001394225.1:p.Thr700Ile NC_000016.10:23629994:G:A p.(Thr700Ile) NC_000016.10:23629994:G:A p.(Thr700Ile) NC_000016.10:23629994:G:A Identity +NM_001166108.2:c.1453C>A NP_001159580.1:p.Pro485Thr NC_000004.12:168690719:C:A p.(Pro485Thr) NC_000004.12:168690719:C:A p.(Pro485Thr) NC_000004.12:168690719:C:A Identity +NM_001127460.4:c.677T>G NP_001120932.2:p.Phe226Cys NC_000012.12:56327605:A:C p.(Phe226Cys) NC_000012.12:56327605:A:C p.(Phe226Cys) NC_000012.12:56327605:A:C Identity +NM_015368.4:c.1138G>A NP_056183.2:p.Gly380Ser NC_000011.10:94180193:G:A p.(Gly380Ser) NC_000011.10:94180193:G:A p.(Gly380Ser) NC_000011.10:94180193:G:A Identity +NM_015368.4:c.512C>T NP_056183.2:p.Ser171Leu NC_000011.10:94178558:C:T p.(Ser171Leu) NC_000011.10:94178558:C:T p.(Ser171Leu) NC_000011.10:94178558:C:T Identity +NM_052959.3:c.648G>C NP_443191.1:p.Leu216Phe NC_000011.10:124619403:G:C p.(Leu216Phe) NC_000011.10:124619403:G:C p.(Leu216Phe) NC_000011.10:124619403:G:C Identity +NM_001142276.2:c.368G>T NP_001135748.1:p.Cys123Phe NC_000011.10:130110625:G:T p.(Cys123Phe) NC_000011.10:130110625:G:T p.(Cys123Phe) NC_000011.10:130110625:G:T Identity +NM_001252006.1:c.377G>A NP_001238935.1:p.Arg126Gln NC_000014.9:96527474:G:A p.(Arg126Gln) NC_000014.9:96527474:G:A p.(Arg126Gln) NC_000014.9:96527474:G:A Identity +NM_020318.3:c.3580C>T NP_064714.2:p.Arg1194Trp NC_000001.11:176710104:C:T p.(Arg1194Trp) NC_000001.11:176710104:C:T p.(Arg1194Trp) NC_000001.11:176710104:C:T Identity +NM_001015880.2:c.1294C>T NP_001015880.1:p.Arg432Cys NC_000010.11:87743443:C:T p.(Arg432Cys) NC_000010.11:87743443:C:T p.(Arg432Cys) NC_000010.11:87743443:C:T Identity +NM_001184785.2:c.2590G>C NP_001171714.1:p.Asp864His NC_000010.11:34336213:C:G p.(Asp864His) NC_000010.11:34336213:C:G p.(Asp864His) NC_000010.11:34336213:C:G Identity +NM_032521.3:c.26C>T NP_115910.1:p.Ala9Val NC_000020.11:50731811:C:T p.(Ala9Val) NC_000020.11:50731811:C:T p.(Ala9Val) NC_000020.11:50731811:C:T Identity +NM_005443.5:c.854G>A NP_005434.4:p.Arg285Lys NC_000004.12:107656936:C:T p.(Arg285Lys) NC_000004.12:107656936:C:T p.(Arg285Lys) NC_000004.12:107656936:C:T Identity +NM_001375300.1:c.799C>A NP_001362229.1:p.Arg267Ser NC_000003.12:142962537:G:T p.(Arg267Ser) NC_000003.12:142962537:G:T p.(Arg267Ser) NC_000003.12:142962537:G:T Identity +NM_001184785.2:c.3000A>C NP_001171714.1:p.Arg1000Ser NC_000010.11:34317171:T:G p.(Arg1000Ser) NC_000010.11:34317171:T:G p.(Arg1000Ser) NC_000010.11:34317171:T:G Identity +NM_133367.5:c.173C>A NP_588608.1:p.Thr58Lys NC_000006.12:52403385:C:A p.(Thr58Lys) NC_000006.12:52403385:C:A p.(Thr58Lys) NC_000006.12:52403385:C:A Identity +NM_001037281.2:c.10C>T NP_001032358.1:p.Pro4Ser NC_000016.10:67661047:C:T p.(Pro4Ser) NC_000016.10:67661047:C:T p.(Pro4Ser) NC_000016.10:67661047:C:T Identity +NM_001004065.4:c.1137G>T NP_001004065.2:p.Gln379His NC_000009.12:110137106:G:T p.(Gln379His) NC_000009.12:110137106:G:T p.(Gln379His) NC_000009.12:110137106:G:T Identity +NM_001001991.3:c.544G>A NP_001001991.1:p.Val182Ile NC_000011.10:35470768:C:T p.(Val182Ile) NC_000011.10:35470768:C:T p.(Val182Ile) NC_000011.10:35470768:C:T Identity +NM_001127460.4:c.107A>G NP_001120932.2:p.Asn36Ser NC_000012.12:56332987:T:C p.(Asn36Ser) NC_000012.12:56332987:T:C p.(Asn36Ser) NC_000012.12:56332987:T:C Identity +NM_032521.3:c.796G>A NP_115910.1:p.Gly266Ser NC_000020.11:50750164:G:A p.(Gly266Ser) NC_000020.11:50750164:G:A p.(Gly266Ser) NC_000020.11:50750164:G:A Identity +NM_001618.4:c.1385T>C NP_001609.2:p.Val462Ala NC_000001.11:226380079:A:G p.(Val462Ala) NC_000001.11:226380079:A:G p.(Val462Ala) NC_000001.11:226380079:A:G Identity +NM_001618.4:c.371C>T NP_001609.2:p.Thr124Met NC_000001.11:226392229:G:A p.(Thr124Met) NC_000001.11:226392229:G:A p.(Thr124Met) NC_000001.11:226392229:G:A Identity +NM_006437.4:c.1245T>A NP_006428.2:p.Phe415Leu NC_000013.11:24486274:A:T p.(Phe415Leu) NC_000013.11:24486274:A:T p.(Phe415Leu) NC_000013.11:24486274:A:T Identity +NM_001178055.2:c.54C>G NP_001171526.1:p.Ile18Met NC_000005.10:50667148:C:G p.(Ile18Met) NC_000005.10:50667148:C:G p.(Ile18Met) NC_000005.10:50667148:C:G Identity +NM_018222.5:c.163A>C NP_060692.3:p.Asn55His NC_000011.10:12473770:A:C p.(Asn55His) NC_000011.10:12473770:A:C p.(Asn55His) NC_000011.10:12473770:A:C Identity +NM_001137605.3:c.925C>A NP_001131077.1:p.Leu309Ile NC_000022.11:44206354:C:A p.(Leu309Ile) NC_000022.11:44206354:C:A p.(Leu309Ile) NC_000022.11:44206354:C:A Identity +NM_001003931.4:c.307C>T NP_001003931.4:p.Arg103Cys NC_000003.12:51944211:C:T p.(Arg103Cys) NC_000003.12:51944211:C:T p.(Arg103Cys) NC_000003.12:51944211:C:T Identity +NM_006437.4:c.1660A>G NP_006428.2:p.Asn554Asp NC_000013.11:24477829:T:C p.(Asn554Asp) NC_000013.11:24477829:T:C p.(Asn554Asp) NC_000013.11:24477829:T:C Identity +NM_006437.4:c.397A>G NP_006428.2:p.Thr133Ala NC_000013.11:24500319:T:C p.(Thr133Ala) NC_000013.11:24500319:T:C p.(Thr133Ala) NC_000013.11:24500319:T:C Identity +NM_001319988.2:c.133A>G NP_001306917.1:p.Met45Val NC_000012.12:102124020:A:G p.(Met45Val) NC_000012.12:102124020:A:G p.(Met45Val) NC_000012.12:102124020:A:G Identity +NM_014323.3:c.647C>G NP_055138.2:p.Ala216Gly NC_000022.11:31344955:G:C p.(Ala216Gly) NC_000022.11:31344955:G:C p.(Ala216Gly) NC_000022.11:31344955:G:C Identity +NM_001166598.2:c.652C>A NP_001160070.1:p.Pro218Thr NC_000011.10:116790576:G:T p.(Pro218Thr) NC_000011.10:116790576:G:T p.(Pro218Thr) NC_000011.10:116790576:G:T Identity +NM_006196.4:c.274G>T NP_006187.2:p.Ala92Ser NC_000002.12:70088016:G:T p.(Ala92Ser) NC_000002.12:70088016:G:T p.(Ala92Ser) NC_000002.12:70088016:G:T Identity +NM_001166598.2:c.505G>T NP_001160070.1:p.Ala169Ser NC_000011.10:116790723:C:A p.(Ala169Ser) NC_000011.10:116790723:C:A p.(Ala169Ser) NC_000011.10:116790723:C:A Identity +NM_001204961.2:c.415G>A NP_001191890.1:p.Ala139Thr NC_000001.11:164792642:G:A p.(Ala139Thr) NC_000001.11:164792642:G:A p.(Ala139Thr) NC_000001.11:164792642:G:A Identity +NM_001142769.3:c.4736T>G NP_001136241.1:p.Leu1579Arg NC_000010.11:53809328:A:C p.(Leu1579Arg) NC_000010.11:53809328:A:C p.(Leu1579Arg) NC_000010.11:53809328:A:C Identity +NM_001040429.3:c.3040A>G NP_001035519.1:p.Asn1014Asp NC_000013.11:57724853:A:G p.(Asn1014Asp) NC_000013.11:57724853:A:G p.(Asn1014Asp) NC_000013.11:57724853:A:G Identity +NM_032510.4:c.845C>A NP_115899.1:p.Pro282Gln NC_000018.10:80160056:G:T p.(Pro282Gln) NC_000018.10:80160056:G:T p.(Pro282Gln) NC_000018.10:80160056:G:T Identity +NM_000039.3:c.259C>A NP_000030.1:p.Gln87Lys NC_000011.10:116836352:G:T p.(Gln87Lys) NC_000011.10:116836352:G:T p.(Gln87Lys) NC_000011.10:116836352:G:T Identity +NM_001037639.3:c.127T>A NP_001032728.1:p.Phe43Ile NC_000003.12:183868058:A:T p.(Phe43Ile) NC_000003.12:183868058:A:T p.(Phe43Ile) NC_000003.12:183868058:A:T Identity +NM_001317895.2:c.2267G>A NP_001304824.1:p.Arg756His NC_000008.11:143983357:C:T p.(Arg756His) NC_000008.11:143983357:C:T p.(Arg756His) NC_000008.11:143983357:C:T Identity +NM_006437.4:c.4888A>G NP_006428.2:p.Met1630Val NC_000013.11:24426556:T:C p.(Met1630Val) NC_000013.11:24426556:T:C p.(Met1630Val) NC_000013.11:24426556:T:C Identity +NM_001178055.2:c.365C>T NP_001171526.1:p.Thr122Ile NC_000005.10:50761839:C:T p.(Thr122Ile) NC_000005.10:50761839:C:T p.(Thr122Ile) NC_000005.10:50761839:C:T Identity +NM_018902.5:c.1097C>G NP_061725.1:p.Thr366Arg NC_000005.10:140870199:C:G p.(Thr366Arg) NC_000005.10:140870199:C:G p.(Thr366Arg) NC_000005.10:140870199:C:G Identity +NM_018906.3:c.1288G>C NP_061729.1:p.Gly430Arg NC_000005.10:140802484:G:C p.(Gly430Arg) NC_000005.10:140802484:G:C p.(Gly430Arg) NC_000005.10:140802484:G:C Identity +NM_018906.3:c.476A>G NP_061729.1:p.Asp159Gly NC_000005.10:140801672:A:G p.(Asp159Gly) NC_000005.10:140801672:A:G p.(Asp159Gly) NC_000005.10:140801672:A:G Identity +NM_001142769.3:c.5259A>C NP_001136241.1:p.Glu1753Asp NC_000010.11:53808805:T:G p.(Glu1753Asp) NC_000010.11:53808805:T:G p.(Glu1753Asp) NC_000010.11:53808805:T:G Identity +NM_001173523.2:c.722G>T NP_001166994.1:p.Ser241Ile NC_000004.12:30722143:G:T p.(Ser241Ile) NC_000004.12:30722143:G:T p.(Ser241Ile) NC_000004.12:30722143:G:T Identity +NM_001318372.2:c.562T>C NP_001305301.1:p.Phe188Leu NC_000013.11:67227878:A:G p.(Phe188Leu) NC_000013.11:67227878:A:G p.(Phe188Leu) NC_000013.11:67227878:A:G Identity +NM_001003828.3:c.551C>T NP_001003828.1:p.Thr184Met NC_000022.11:44131561:C:T p.(Thr184Met) NC_000022.11:44131561:C:T p.(Thr184Met) NC_000022.11:44131561:C:T Identity +NM_001252119.2:c.494A>G NP_001239048.1:p.Gln165Arg NC_000002.12:241139990:T:C p.(Gln165Arg) NC_000002.12:241139990:T:C p.(Gln165Arg) NC_000002.12:241139990:T:C Identity +NM_003466.4:c.921A>G NP_003457.1:p.Ile307Met NC_000002.12:113235559:T:C p.(Ile307Met) NC_000002.12:113235559:T:C p.(Ile307Met) NC_000002.12:113235559:T:C Identity +NM_018932.4:c.751A>G NP_061755.1:p.Ile251Val NC_000005.10:141209657:A:G p.(Ile251Val) NC_000005.10:141209657:A:G p.(Ile251Val) NC_000005.10:141209657:A:G Identity +NM_020957.4:c.1108G>C NP_066008.2:p.Val370Leu NC_000005.10:141183666:G:C p.(Val370Leu) NC_000005.10:141183666:G:C p.(Val370Leu) NC_000005.10:141183666:G:C Identity +NM_018937.5:c.721G>A NP_061760.2:p.Glu241Lys NC_000005.10:141101369:G:A p.(Glu241Lys) NC_000005.10:141101369:G:A p.(Glu241Lys) NC_000005.10:141101369:G:A Identity +NM_001252119.2:c.805G>A NP_001239048.1:p.Val269Met NC_000002.12:241138023:C:T p.(Val269Met) NC_000002.12:241138023:C:T p.(Val269Met) NC_000002.12:241138023:C:T Identity +NM_000278.5:c.1035C>T NP_000269.3:p.Ser345= NC_000010.11:100827021:C:T p.(Ser345=) NC_000010.11:100827021:C:T p.(Ser345=) NC_000010.11:100827021:C:T Identity +NM_013329.4:c.220G>A NP_037461.2:p.Glu74Lys NC_000021.9:32771448:C:T p.(Glu74Lys) NC_000021.9:32771448:C:T p.(Glu74Lys) NC_000021.9:32771448:C:T Identity +NM_001317734.2:c.409G>C NP_001304663.1:p.Glu137Gln NC_000001.11:154948279:C:G p.(Glu137Gln) NC_000001.11:154948279:C:G p.(Glu137Gln) NC_000001.11:154948279:C:G Identity +NM_001317734.2:c.485T>C NP_001304663.1:p.Leu162Pro NC_000001.11:154948203:A:G p.(Leu162Pro) NC_000001.11:154948203:A:G p.(Leu162Pro) NC_000001.11:154948203:A:G Identity +NM_001168360.1:c.3349G>C NP_001161832.1:p.Glu1117Gln NC_000023.11:92618268:G:C p.(Glu1117Gln) NC_000023.11:92618268:G:C p.(Glu1117Gln) NC_000023.11:92618268:G:C Identity +NM_018913.3:c.2044T>C NP_061736.1:p.Phe682Leu NC_000005.10:141415218:T:C p.(Phe682Leu) NC_000005.10:141415218:T:C p.(Phe682Leu) NC_000005.10:141415218:T:C Identity +NM_001317734.2:c.1418A>C NP_001304663.1:p.Lys473Thr NC_000001.11:154946168:T:G p.(Lys473Thr) NC_000001.11:154946168:T:G p.(Lys473Thr) NC_000001.11:154946168:T:G Identity +NM_022436.3:c.338T>A NP_071881.1:p.Val113Glu NC_000002.12:43832010:A:T p.(Val113Glu) NC_000002.12:43832010:A:T p.(Val113Glu) NC_000002.12:43832010:A:T Identity +NM_018904.3:c.1553A>G NP_061727.1:p.Tyr518Cys NC_000005.10:140883820:A:G p.(Tyr518Cys) NC_000005.10:140883820:A:G p.(Tyr518Cys) NC_000005.10:140883820:A:G Identity +NM_018909.4:c.1922A>T NP_061732.1:p.Asp641Val NC_000005.10:140830012:A:T p.(Asp641Val) NC_000005.10:140830012:A:T p.(Asp641Val) NC_000005.10:140830012:A:T Identity +NM_018911.3:c.1358C>T NP_061734.1:p.Pro453Leu NC_000005.10:140842678:C:T p.(Pro453Leu) NC_000005.10:140842678:C:T p.(Pro453Leu) NC_000005.10:140842678:C:T Identity +NM_018899.6:c.1510G>T NP_061722.1:p.Val504Leu NC_000005.10:140968275:G:T p.(Val504Leu) NC_000005.10:140968275:G:T p.(Val504Leu) NC_000005.10:140968275:G:T Identity +NM_018902.5:c.215G>C NP_061725.1:p.Gly72Ala NC_000005.10:140869317:G:C p.(Gly72Ala) NC_000005.10:140869317:G:C p.(Gly72Ala) NC_000005.10:140869317:G:C Identity +NM_002591.4:c.1772A>C NP_002582.3:p.Asp591Ala NC_000020.11:57565706:A:C p.(Asp591Ala) NC_000020.11:57565706:A:C p.(Asp591Ala) NC_000020.11:57565706:A:C Identity +NM_001018073.3:c.887G>A NP_001018083.2:p.Arg296His NC_000014.9:24099591:G:A p.(Arg296His) NC_000014.9:24099591:G:A p.(Arg296His) NC_000014.9:24099591:G:A Identity +NM_033026.6:c.14861G>A NP_149015.2:p.Ser4954Asn NC_000007.14:82805759:C:T p.(Ser4954Asn) NC_000007.14:82805759:C:T p.(Ser4954Asn) NC_000007.14:82805759:C:T Identity +NM_018931.3:c.2206C>A NP_061754.1:p.Leu736Met NC_000005.10:141201979:C:A p.(Leu736Met) NC_000005.10:141201979:C:A p.(Leu736Met) NC_000005.10:141201979:C:A Identity +NM_020957.4:c.1234G>A NP_066008.2:p.Glu412Lys NC_000005.10:141183792:G:A p.(Glu412Lys) NC_000005.10:141183792:G:A p.(Glu412Lys) NC_000005.10:141183792:G:A Identity +NM_018936.4:c.2374A>G NP_061759.1:p.Arg792Gly NC_000005.10:141097163:A:G p.(Arg792Gly) NC_000005.10:141097163:A:G p.(Arg792Gly) NC_000005.10:141097163:A:G Identity +NM_001303145.2:c.998G>C NP_001290074.1:p.Gly333Ala NC_000005.10:141151662:G:C p.(Gly333Ala) NC_000005.10:141151662:G:C p.(Gly333Ala) NC_000005.10:141151662:G:C Identity +NM_019120.5:c.1876C>A NP_061993.3:p.Arg626Ser NC_000005.10:141179909:C:A p.(Arg626Ser) NC_000005.10:141179909:C:A p.(Arg626Ser) NC_000005.10:141179909:C:A Identity +NM_019119.5:c.776C>A NP_061992.3:p.Ser259Tyr NC_000005.10:141188093:C:A p.(Ser259Tyr) NC_000005.10:141188093:C:A p.(Ser259Tyr) NC_000005.10:141188093:C:A Identity +NM_018900.4:c.1595A>G NP_061723.1:p.Gln532Arg NC_000005.10:140787884:A:G p.(Gln532Arg) NC_000005.10:140787884:A:G p.(Gln532Arg) NC_000005.10:140787884:A:G Identity +NM_018903.4:c.1904G>T NP_061726.1:p.Arg635Leu NC_000005.10:140877375:G:T p.(Arg635Leu) NC_000005.10:140877375:G:T p.(Arg635Leu) NC_000005.10:140877375:G:T Identity +NM_018908.3:c.335C>G NP_061731.1:p.Pro112Arg NC_000005.10:140822109:C:G p.(Pro112Arg) NC_000005.10:140822109:C:G p.(Pro112Arg) NC_000005.10:140822109:C:G Identity +NM_001315529.2:c.6283A>G NP_001302458.1:p.Lys2095Glu NC_000021.9:46416554:A:G p.(Lys2095Glu) NC_000021.9:46416554:A:G p.(Lys2095Glu) NC_000021.9:46416554:A:G Identity +NM_016297.4:c.930C>G NP_057381.3:p.Ile310Met NC_000002.12:70276803:C:G p.(Ile310Met) NC_000002.12:70276803:C:G p.(Ile310Met) NC_000002.12:70276803:C:G Identity +NM_001411058.1:c.94T>G NP_001397987.1:p.Leu32Val NC_000010.11:103398519:T:G p.(Leu32Val) NC_000010.11:103398519:T:G p.(Leu32Val) NC_000010.11:103398519:T:G Identity +NM_018915.4:c.1738C>G NP_061738.1:p.Arg580Gly NC_000005.10:141340708:C:G p.(Arg580Gly) NC_000005.10:141340708:C:G p.(Arg580Gly) NC_000005.10:141340708:C:G Identity +NM_018917.4:c.1585G>C NP_061740.2:p.Gly529Arg NC_000005.10:141356691:G:C p.(Gly529Arg) NC_000005.10:141356691:G:C p.(Gly529Arg) NC_000005.10:141356691:G:C Identity +NM_018917.4:c.400G>A NP_061740.2:p.Val134Met NC_000005.10:141355506:G:A p.(Val134Met) NC_000005.10:141355506:G:A p.(Val134Met) NC_000005.10:141355506:G:A Identity +NM_018932.4:c.1979T>A NP_061755.1:p.Val660Glu NC_000005.10:141210885:T:A p.(Val660Glu) NC_000005.10:141210885:T:A p.(Val660Glu) NC_000005.10:141210885:T:A Identity +NM_018933.4:c.484G>C NP_061756.1:p.Asp162His NC_000005.10:141214606:G:C p.(Asp162His) NC_000005.10:141214606:G:C p.(Asp162His) NC_000005.10:141214606:G:C Identity +NM_005707.2:c.548G>C NP_005698.1:p.Arg183Pro NC_000015.10:65133233:C:G p.(Arg183Pro) NC_000015.10:65133233:C:G p.(Arg183Pro) NC_000015.10:65133233:C:G Identity +NM_024065.5:c.566T>C NP_076970.1:p.Leu189Pro NC_000002.12:100571786:T:C p.(Leu189Pro) NC_000002.12:100571786:T:C p.(Leu189Pro) NC_000002.12:100571786:T:C Identity +NM_001191056.3:c.1669G>A NP_001177985.1:p.Glu557Lys NC_000007.14:31816067:C:T p.(Glu557Lys) NC_000007.14:31816067:C:T p.(Glu557Lys) NC_000007.14:31816067:C:T Identity +NM_001191056.3:c.1364A>G NP_001177985.1:p.Asp455Gly NC_000007.14:31824908:T:C p.(Asp455Gly) NC_000007.14:31824908:T:C p.(Asp455Gly) NC_000007.14:31824908:T:C Identity +NM_000922.4:c.122A>C NP_000913.2:p.Gln41Pro NC_000011.10:14644196:A:C p.(Gln41Pro) NC_000011.10:14644196:A:C p.(Gln41Pro) NC_000011.10:14644196:A:C Identity +NM_018940.4:c.2062C>G NP_061763.1:p.Leu688Val NC_000005.10:141174896:C:G p.(Leu688Val) NC_000005.10:141174896:C:G p.(Leu688Val) NC_000005.10:141174896:C:G Identity +NM_018920.4:c.236A>T NP_061743.1:p.Gln79Leu NC_000005.10:141383134:A:T p.(Gln79Leu) NC_000005.10:141383134:A:T p.(Gln79Leu) NC_000005.10:141383134:A:T Identity +NM_018927.4:c.287G>A NP_061750.1:p.Cys96Tyr NC_000005.10:141418145:G:A p.(Cys96Tyr) NC_000005.10:141418145:G:A p.(Cys96Tyr) NC_000005.10:141418145:G:A Identity +NM_019119.5:c.412A>G NP_061992.3:p.Met138Val NC_000005.10:141187729:A:G p.(Met138Val) NC_000005.10:141187729:A:G p.(Met138Val) NC_000005.10:141187729:A:G Identity +NM_018912.3:c.1696G>A NP_061735.1:p.Ala566Thr NC_000005.10:141332379:G:A p.(Ala566Thr) NC_000005.10:141332379:G:A p.(Ala566Thr) NC_000005.10:141332379:G:A Identity +NM_018921.3:c.1739G>T NP_061744.1:p.Arg580Leu NC_000005.10:141404690:G:T p.(Arg580Leu) NC_000005.10:141404690:G:T p.(Arg580Leu) NC_000005.10:141404690:G:T Identity +NM_018921.3:c.944A>T NP_061744.1:p.Tyr315Phe NC_000005.10:141403895:A:T p.(Tyr315Phe) NC_000005.10:141403895:A:T p.(Tyr315Phe) NC_000005.10:141403895:A:T Identity +NM_018923.3:c.1825C>A NP_061746.1:p.Leu609Met NC_000005.10:141361959:C:A p.(Leu609Met) NC_000005.10:141361959:C:A p.(Leu609Met) NC_000005.10:141361959:C:A Identity +NM_018927.4:c.2218C>T NP_061750.1:p.Pro740Ser NC_000005.10:141420076:C:T p.(Pro740Ser) NC_000005.10:141420076:C:T p.(Pro740Ser) NC_000005.10:141420076:C:T Identity +NM_001271168.2:c.1178G>A NP_001258097.1:p.Arg393Gln NC_000020.11:2835495:C:T p.(Arg393Gln) NC_000020.11:2835495:C:T p.(Arg393Gln) NC_000020.11:2835495:C:T Identity +NM_000384.3:c.6015T>G NP_000375.3:p.Ile2005Met NC_000002.12:21010852:A:C p.(Ile2005Met) NC_000002.12:21010852:A:C p.(Ile2005Met) NC_000002.12:21010852:A:C Identity +NM_001347827.2:c.2222A>T NP_001334756.1:p.Gln741Leu NC_000004.12:54280380:A:T p.(Gln741Leu) NC_000004.12:54280380:A:T p.(Gln741Leu) NC_000004.12:54280380:A:T Identity +NM_001347828.2:c.2686C>G NP_001334757.1:p.Leu896Val NC_000004.12:54287477:C:G p.(Leu896Val) NC_000004.12:54287477:C:G p.(Leu896Val) NC_000004.12:54287477:C:G Identity +NM_001355016.2:c.649G>A NP_001341945.1:p.Ala217Thr NC_000005.10:150133678:C:T p.(Ala217Thr) NC_000005.10:150133678:C:T p.(Ala217Thr) NC_000005.10:150133678:C:T Identity +NM_001371244.1:c.1723G>A NP_001358173.1:p.Gly575Ser NC_000007.14:149004011:C:T p.(Gly575Ser) NC_000007.14:149004011:C:T p.(Gly575Ser) NC_000007.14:149004011:C:T Identity +NM_174924.2:c.937G>A NP_777584.1:p.Asp313Asn NC_000016.10:20369670:C:T p.(Asp313Asn) NC_000016.10:20369670:C:T p.(Asp313Asn) NC_000016.10:20369670:C:T Identity +NM_000384.3:c.79G>A NP_000375.3:p.Ala27Thr NC_000002.12:21043866:C:T p.(Ala27Thr) NC_000002.12:21043866:C:T p.(Ala27Thr) NC_000002.12:21043866:C:T Identity +NM_001011663.2:c.677T>C NP_001011663.1:p.Val226Ala NC_000010.11:103345128:A:G p.(Val226Ala) NC_000010.11:103345128:A:G p.(Val226Ala) NC_000010.11:103345128:A:G Identity +NM_001291556.2:c.1390C>A NP_001278485.1:p.Leu464Ile NC_000014.9:24103832:C:A p.(Leu464Ile) NC_000014.9:24103832:C:A p.(Leu464Ile) NC_000014.9:24103832:C:A Identity +NM_001018073.3:c.586A>T NP_001018083.2:p.Thr196Ser NC_000014.9:24098599:A:T p.(Thr196Ser) NC_000014.9:24098599:A:T p.(Thr196Ser) NC_000014.9:24098599:A:T Identity +NM_001315507.2:c.5639A>G NP_001302436.2:p.His1880Arg NC_000008.11:18014661:A:G p.(His1880Arg) NC_000008.11:18014661:A:G p.(His1880Arg) NC_000008.11:18014661:A:G Identity +NM_001315529.2:c.7718G>A NP_001302458.1:p.Arg2573Gln NC_000021.9:46431535:G:A p.(Arg2573Gln) NC_000021.9:46431535:G:A p.(Arg2573Gln) NC_000021.9:46431535:G:A Identity +NM_001322117.1:c.823A>T NP_001309046.1:p.Thr275Ser NC_000016.10:70131394:A:T p.(Thr275Ser) NC_000016.10:70131394:A:T p.(Thr275Ser) NC_000016.10:70131394:A:T Identity +NM_000384.3:c.8354A>G NP_000375.3:p.Asn2785Ser NC_000002.12:21008513:T:C p.(Asn2785Ser) NC_000002.12:21008513:T:C p.(Asn2785Ser) NC_000002.12:21008513:T:C Identity +NM_001164595.2:c.2509T>C NP_001158067.1:p.Ser837Pro NC_000012.12:41573287:T:C p.(Ser837Pro) NC_000012.12:41573287:T:C p.(Ser837Pro) NC_000012.12:41573287:T:C Identity +NM_000384.3:c.3059A>G NP_000375.3:p.Tyr1020Cys NC_000002.12:21019053:T:C p.(Tyr1020Cys) NC_000002.12:21019053:T:C p.(Tyr1020Cys) NC_000002.12:21019053:T:C Identity +NM_001315529.2:c.3224A>T NP_001302458.1:p.Asp1075Val NC_000021.9:46388854:A:T p.(Asp1075Val) NC_000021.9:46388854:A:T p.(Asp1075Val) NC_000021.9:46388854:A:T Identity +NM_001201528.2:c.1234C>T NP_001188457.1:p.Arg412Cys NC_000020.11:17465413:C:T p.(Arg412Cys) NC_000020.11:17465413:C:T p.(Arg412Cys) NC_000020.11:17465413:C:T Identity +NM_001301054.2:c.1100G>A NP_001287983.1:p.Arg367Gln NC_000005.10:149368319:G:A p.(Arg367Gln) NC_000005.10:149368319:G:A p.(Arg367Gln) NC_000005.10:149368319:G:A Identity +NM_021255.3:c.8C>T NP_067078.1:p.Ser3Phe NC_000014.9:56118667:C:T p.(Ser3Phe) NC_000014.9:56118667:C:T p.(Ser3Phe) NC_000014.9:56118667:C:T Identity +NM_001111307.2:c.1757T>C NP_001104777.1:p.Met586Thr NC_000019.10:10463805:T:C p.(Met586Thr) NC_000019.10:10463805:T:C p.(Met586Thr) NC_000019.10:10463805:T:C Identity +NM_001347827.2:c.434C>G NP_001334756.1:p.Ser145Cys NC_000004.12:54263732:C:G p.(Ser145Cys) NC_000004.12:54263732:C:G p.(Ser145Cys) NC_000004.12:54263732:C:G Identity +NM_001077196.2:c.1290T>G NP_001070664.1:p.Asp430Glu NC_000002.12:177663889:A:C p.(Asp430Glu) NC_000002.12:177663889:A:C p.(Asp430Glu) NC_000002.12:177663889:A:C Identity +NM_001191056.3:c.1703C>T NP_001177985.1:p.Thr568Met NC_000007.14:31816033:G:A p.(Thr568Met) NC_000007.14:31816033:G:A p.(Thr568Met) NC_000007.14:31816033:G:A Identity +NM_001270411.2:c.761T>G NP_001257340.2:p.Ile254Ser NC_000022.11:38991443:T:G p.(Ile254Ser) NC_000022.11:38991443:T:G p.(Ile254Ser) NC_000022.11:38991443:T:G Identity +NM_001029886.3:c.292G>A NP_001025057.1:p.Val98Met NC_000005.10:177400284:C:T p.(Val98Met) NC_000005.10:177400284:C:T p.(Val98Met) NC_000005.10:177400284:C:T Identity +NM_001143839.4:c.108C>G NP_001137311.1:p.Cys36Trp NC_000011.10:72642268:G:C p.(Cys36Trp) NC_000011.10:72642268:G:C p.(Cys36Trp) NC_000011.10:72642268:G:C Identity +NM_030815.3:c.205C>A NP_110442.1:p.Pro69Thr NC_000020.11:31948840:G:T p.(Pro69Thr) NC_000020.11:31948840:G:T p.(Pro69Thr) NC_000020.11:31948840:G:T Identity +NM_001166002.3:c.193T>A NP_001159474.2:p.Ser65Thr NC_000022.11:39101278:T:A p.(Ser65Thr) NC_000022.11:39101278:T:A p.(Ser65Thr) NC_000022.11:39101278:T:A Identity +NM_018690.4:c.2021C>A NP_061160.3:p.Pro674Gln NC_000016.10:28497061:C:A p.(Pro674Gln) NC_000016.10:28497061:C:A p.(Pro674Gln) NC_000016.10:28497061:C:A Identity +NM_001322117.1:c.1751G>A NP_001309046.1:p.Arg584His NC_000016.10:70143654:G:A p.(Arg584His) NC_000016.10:70143654:G:A p.(Arg584His) NC_000016.10:70143654:G:A Identity +NM_001321978.2:c.82C>G NP_001308907.1:p.Arg28Gly NC_000010.11:26697792:C:G p.(Arg28Gly) NC_000010.11:26697792:C:G p.(Arg28Gly) NC_000010.11:26697792:C:G Identity +NM_001201325.2:c.1260G>C NP_001188254.1:p.Glu420Asp NC_000001.11:145672975:C:G p.(Glu420Asp) NC_000001.11:145672975:C:G p.(Glu420Asp) NC_000001.11:145672975:C:G Identity +NM_001303139.2:c.1627G>A NP_001290068.1:p.Gly543Arg NC_000003.12:73384032:C:T p.(Gly543Arg) NC_000003.12:73384032:C:T p.(Gly543Arg) NC_000003.12:73384032:C:T Identity +NM_001385026.1:c.3847C>T NP_001371955.1:p.Arg1283Trp NC_000015.10:77133234:G:A p.(Arg1283Trp) NC_000015.10:77133234:G:A p.(Arg1283Trp) NC_000015.10:77133234:G:A Identity +NM_178140.4:c.6257G>A NP_835260.2:p.Arg2086Lys NC_000005.10:32089704:G:A p.(Arg2086Lys) NC_000005.10:32089704:G:A p.(Arg2086Lys) NC_000005.10:32089704:G:A Identity +NM_001201325.2:c.296G>A NP_001188254.1:p.Arg99Gln NC_000001.11:145686640:C:T p.(Arg99Gln) NC_000001.11:145686640:C:T p.(Arg99Gln) NC_000001.11:145686640:C:T Identity +NM_001164595.2:c.95C>A NP_001158067.1:p.Pro32Gln NC_000012.12:41188549:C:A p.(Pro32Gln) NC_000012.12:41188549:C:A p.(Pro32Gln) NC_000012.12:41188549:C:A Identity +NM_014510.3:c.6073C>A NP_055325.2:p.Pro2025Thr NC_000007.14:82954879:G:T p.(Pro2025Thr) NC_000007.14:82954879:G:T p.(Pro2025Thr) NC_000007.14:82954879:G:T Identity +NM_001315507.2:c.95T>G NP_001302436.2:p.Met32Arg NC_000008.11:17935704:T:G p.(Met32Arg) NC_000008.11:17935704:T:G p.(Met32Arg) NC_000008.11:17935704:T:G Identity +NM_001407240.1:c.599A>G NP_001394169.1:p.Glu200Gly NC_000001.11:55046598:A:G p.(Glu200Gly) NC_000001.11:55046598:A:G p.(Glu200Gly) NC_000001.11:55046598:A:G Identity +NM_001145443.3:c.739G>T NP_001138915.1:p.Gly247Cys NC_000010.11:6220832:G:T p.(Gly247Cys) NC_000010.11:6220832:G:T p.(Gly247Cys) NC_000010.11:6220832:G:T Identity +NM_000289.6:c.1150G>A NP_000280.1:p.Val384Met NC_000012.12:48139870:G:A p.(Val384Met) NC_000012.12:48139870:G:A p.(Val384Met) NC_000012.12:48139870:G:A Identity +NM_001301054.2:c.220A>G NP_001287983.1:p.Met74Val NC_000005.10:149362818:A:G p.(Met74Val) NC_000005.10:149362818:A:G p.(Met74Val) NC_000005.10:149362818:A:G Identity +NM_001411058.1:c.1142G>A NP_001397987.1:p.Gly381Glu NC_000010.11:103413278:G:A p.(Gly381Glu) NC_000010.11:103413278:G:A p.(Gly381Glu) NC_000010.11:103413278:G:A Identity +NM_000921.5:c.1718A>G NP_000912.3:p.Asp573Gly NC_000012.12:20630084:A:G p.(Asp573Gly) NC_000012.12:20630084:A:G p.(Asp573Gly) NC_000012.12:20630084:A:G Identity +NM_000923.6:c.368G>A NP_000914.2:p.Arg123His NC_000019.10:18222197:C:T p.(Arg123His) NC_000019.10:18222197:C:T p.(Arg123His) NC_000019.10:18222197:C:T Identity +NM_006204.4:c.1408A>G NP_006195.3:p.Ile470Val NC_000010.11:93635634:A:G p.(Ile470Val) NC_000010.11:93635634:A:G p.(Ile470Val) NC_000010.11:93635634:A:G Identity +NM_006204.4:c.2234T>G NP_006195.3:p.Phe745Cys NC_000010.11:93662083:T:G p.(Phe745Cys) NC_000010.11:93662083:T:G p.(Phe745Cys) NC_000010.11:93662083:T:G Identity +NM_001347828.2:c.3031A>C NP_001334757.1:p.Asn1011His NC_000004.12:54290387:A:C p.(Asn1011His) NC_000004.12:54290387:A:C p.(Asn1011His) NC_000004.12:54290387:A:C Identity +NM_020393.4:c.848C>T NP_065126.2:p.Ala283Val NC_000001.11:153337275:G:A p.(Ala283Val) NC_000001.11:153337275:G:A p.(Ala283Val) NC_000001.11:153337275:G:A Identity +NM_000926.4:c.1370C>A NP_000917.3:p.Thr457Asn NC_000011.10:101127700:G:T p.(Thr457Asn) NC_000011.10:101127700:G:T p.(Thr457Asn) NC_000011.10:101127700:G:T Identity +NM_001199898.2:c.506A>G NP_001186827.1:p.Lys169Arg NC_000017.11:50108167:A:G p.(Lys169Arg) NC_000017.11:50108167:A:G p.(Lys169Arg) NC_000017.11:50108167:A:G Identity +NM_001368120.1:c.907G>A NP_001355049.1:p.Gly303Ser NC_000008.11:22593757:G:A p.(Gly303Ser) NC_000008.11:22593757:G:A p.(Gly303Ser) NC_000008.11:22593757:G:A Identity +NM_001011513.4:c.331C>A NP_001011513.4:p.Leu111Ile NC_000004.12:94575981:C:A p.(Leu111Ile) NC_000004.12:94575981:C:A p.(Leu111Ile) NC_000004.12:94575981:C:A Identity +NM_001102612.2:c.235C>T NP_001096082.2:p.Arg79Cys NC_000015.10:98969560:G:A p.(Arg79Cys) NC_000015.10:98969560:G:A p.(Arg79Cys) NC_000015.10:98969560:G:A Identity +NM_001303512.2:c.1618C>T NP_001290441.1:p.Pro540Ser NC_000023.11:153804062:G:A p.(Pro540Ser) NC_000023.11:153804062:G:A p.(Pro540Ser) NC_000023.11:153804062:G:A Identity +NM_012393.3:c.3268G>A NP_036525.1:p.Val1090Ile NC_000017.11:8267550:G:A p.(Val1090Ile) NC_000017.11:8267550:G:A p.(Val1090Ile) NC_000017.11:8267550:G:A Identity +NM_001184743.2:c.860A>G NP_001171672.1:p.Lys287Arg NC_000006.12:28297981:A:G p.(Lys287Arg) NC_000006.12:28297981:A:G p.(Lys287Arg) NC_000006.12:28297981:A:G Identity +NM_001102612.2:c.364G>A NP_001096082.2:p.Ala122Thr NC_000015.10:98969431:C:T p.(Ala122Thr) NC_000015.10:98969431:C:T p.(Ala122Thr) NC_000015.10:98969431:C:T Identity +NM_005392.4:c.505G>T NP_005383.3:p.Asp169Tyr NC_000009.12:93649114:G:T p.(Asp169Tyr) NC_000009.12:93649114:G:T p.(Asp169Tyr) NC_000009.12:93649114:G:T Identity +NM_016436.5:c.1818A>T NP_057520.2:p.Lys606Asn NC_000020.11:35914189:A:T p.(Lys606Asn) NC_000020.11:35914189:A:T p.(Lys606Asn) NC_000020.11:35914189:A:T Identity +NM_005392.4:c.3038C>T NP_005383.3:p.Pro1013Leu NC_000009.12:93676798:C:T p.(Pro1013Leu) NC_000009.12:93676798:C:T p.(Pro1013Leu) NC_000009.12:93676798:C:T Identity +NM_194449.4:c.865G>C NP_919431.2:p.Gly289Arg NC_000018.10:62716547:G:C p.(Gly289Arg) NC_000018.10:62716547:G:C p.(Gly289Arg) NC_000018.10:62716547:G:C Identity +NM_194449.4:c.4660G>A NP_919431.2:p.Glu1554Lys NC_000018.10:62978936:G:A p.(Glu1554Lys) NC_000018.10:62978936:G:A p.(Glu1554Lys) NC_000018.10:62978936:G:A Identity +NM_001286581.2:c.4675G>A NP_001273510.1:p.Glu1559Lys NC_000011.10:610758:G:A p.(Glu1559Lys) NC_000011.10:610758:G:A p.(Glu1559Lys) NC_000011.10:610758:G:A Identity +NM_001134437.2:c.1171C>T NP_001127909.1:p.Pro391Ser NC_000003.12:111885166:C:T p.(Pro391Ser) NC_000003.12:111885166:C:T p.(Pro391Ser) NC_000003.12:111885166:C:T Identity +NM_194449.4:c.791C>T NP_919431.2:p.Pro264Leu NC_000018.10:62716473:C:T p.(Pro264Leu) NC_000018.10:62716473:C:T p.(Pro264Leu) NC_000018.10:62716473:C:T Identity +NM_001289003.1:c.2173G>T NP_001275932.1:p.Ala725Ser NC_000016.10:71656586:C:A p.(Ala725Ser) NC_000016.10:71656586:C:A p.(Ala725Ser) NC_000016.10:71656586:C:A Identity +NM_003924.4:c.836C>G NP_003915.2:p.Pro279Arg NC_000004.12:41745915:G:C p.(Pro279Arg) NC_000004.12:41745915:G:C p.(Pro279Arg) NC_000004.12:41745915:G:C Identity +NM_015897.4:c.329T>C NP_056981.2:p.Val110Ala NC_000019.10:4013223:T:C p.(Val110Ala) NC_000019.10:4013223:T:C p.(Val110Ala) NC_000019.10:4013223:T:C Identity +NM_001349655.2:c.1018C>T NP_001336584.1:p.Arg340Cys NC_000013.11:72827834:C:T p.(Arg340Cys) NC_000013.11:72827834:C:T p.(Arg340Cys) NC_000013.11:72827834:C:T Identity +NM_001100818.2:c.103T>G NP_001094288.1:p.Phe35Val NC_000002.12:229155891:A:C p.(Phe35Val) NC_000002.12:229155891:A:C p.(Phe35Val) NC_000002.12:229155891:A:C Identity +NM_145886.4:c.2420C>G NP_665893.2:p.Ala807Gly NC_000011.10:799868:G:C p.(Ala807Gly) NC_000011.10:799868:G:C p.(Ala807Gly) NC_000011.10:799868:G:C Identity +NM_001362862.2:c.1087G>T NP_001349791.1:p.Asp363Tyr NC_000022.11:20807442:C:A p.(Asp363Tyr) NC_000022.11:20807442:C:A p.(Asp363Tyr) NC_000022.11:20807442:C:A Identity +NM_030882.4:c.776G>A NP_112092.2:p.Arg259Lys NC_000022.11:36227641:C:T p.(Arg259Lys) NC_000022.11:36227641:C:T p.(Arg259Lys) NC_000022.11:36227641:C:T Identity +NM_001039583.1:c.546G>C NP_001034672.1:p.Gln182His NC_000022.11:38071733:G:C p.(Gln182His) NC_000022.11:38071733:G:C p.(Gln182His) NC_000022.11:38071733:G:C Identity +NM_001393587.1:c.995A>G NP_001380516.1:p.His332Arg NC_000022.11:36141203:T:C p.(His332Arg) NC_000022.11:36141203:T:C p.(His332Arg) NC_000022.11:36141203:T:C Identity +NM_001323041.2:c.509A>G NP_001309970.1:p.Asn170Ser NC_000001.11:113724872:T:C p.(Asn170Ser) NC_000001.11:113724872:T:C p.(Asn170Ser) NC_000001.11:113724872:T:C Identity +NM_001127357.2:c.332A>T NP_001120829.1:p.Tyr111Phe NC_000007.14:77901908:A:T p.(Tyr111Phe) NC_000007.14:77901908:A:T p.(Tyr111Phe) NC_000007.14:77901908:A:T Identity +NM_153373.4:c.89A>G NP_699204.1:p.Asp30Gly NC_000005.10:178231493:T:C p.(Asp30Gly) NC_000005.10:178231493:T:C p.(Asp30Gly) NC_000005.10:178231493:T:C Identity +NM_030641.4:c.364G>A NP_085144.1:p.Val122Ile NC_000022.11:35658927:G:A p.(Val122Ile) NC_000022.11:35658927:G:A p.(Val122Ile) NC_000022.11:35658927:G:A Identity +NM_002644.4:c.1124G>A NP_002635.2:p.Arg375His NC_000001.11:206935739:C:T p.(Arg375His) NC_000001.11:206935739:C:T p.(Arg375His) NC_000001.11:206935739:C:T Identity +NM_001377334.1:c.742A>G NP_001364263.1:p.Met248Val NC_000001.11:204469060:T:C p.(Met248Val) NC_000001.11:204469060:T:C p.(Met248Val) NC_000001.11:204469060:T:C Identity +NM_001010855.4:c.1102C>T NP_001010855.1:p.Arg368Cys NC_000017.11:8828777:G:A p.(Arg368Cys) NC_000017.11:8828777:G:A p.(Arg368Cys) NC_000017.11:8828777:G:A Identity +NM_015040.4:c.4122C>G NP_055855.2:p.Asn1374Lys NC_000002.12:208333472:C:G p.(Asn1374Lys) NC_000002.12:208333472:C:G p.(Asn1374Lys) NC_000002.12:208333472:C:G Identity +NM_001378183.1:c.266G>A NP_001365112.1:p.Arg89His NC_000018.10:10979554:C:T p.(Arg89His) NC_000018.10:10979554:C:T p.(Arg89His) NC_000018.10:10979554:C:T Identity +NM_032634.4:c.1933A>T NP_116023.2:p.Thr645Ser NC_000009.12:35091953:T:A p.(Thr645Ser) NC_000009.12:35091953:T:A p.(Thr645Ser) NC_000009.12:35091953:T:A Identity +NM_001378183.1:c.884A>G NP_001365112.1:p.Gln295Arg NC_000018.10:10855385:T:C p.(Gln295Arg) NC_000018.10:10855385:T:C p.(Gln295Arg) NC_000018.10:10855385:T:C Identity +NM_001190971.2:c.557G>A NP_001177900.1:p.Arg186Gln NC_000012.12:130346965:G:A p.(Arg186Gln) NC_000012.12:130346965:G:A p.(Arg186Gln) NC_000012.12:130346965:G:A Identity +NM_001142864.4:c.1974C>A NP_001136336.2:p.Asn658Lys NC_000016.10:88734672:G:T p.(Asn658Lys) NC_000016.10:88734672:G:T p.(Asn658Lys) NC_000016.10:88734672:G:T Identity +NM_024122.5:c.520T>C NP_077027.1:p.Tyr174His NC_000023.11:23856342:A:G p.(Tyr174His) NC_000023.11:23856342:A:G p.(Tyr174His) NC_000023.11:23856342:A:G Identity +NM_012096.3:c.751A>G NP_036228.1:p.Ile251Val NC_000003.12:57248238:A:G p.(Ile251Val) NC_000003.12:57248238:A:G p.(Ile251Val) NC_000003.12:57248238:A:G Identity +NM_006218.4:c.937A>G NP_006209.2:p.Thr313Ala NC_000003.12:179203666:A:G p.(Thr313Ala) NC_000003.12:179203666:A:G p.(Thr313Ala) NC_000003.12:179203666:A:G Identity +NM_006218.4:c.943A>G NP_006209.2:p.Thr315Ala NC_000003.12:179203672:A:G p.(Thr315Ala) NC_000003.12:179203672:A:G p.(Thr315Ala) NC_000003.12:179203672:A:G Identity +NM_014602.3:c.3422C>T NP_055417.1:p.Ser1141Leu NC_000003.12:130686263:G:A p.(Ser1141Leu) NC_000003.12:130686263:G:A p.(Ser1141Leu) NC_000003.12:130686263:G:A Identity +NM_000296.4:c.5390A>G NP_000287.4:p.Asp1797Gly NC_000016.10:2109776:T:C p.(Asp1797Gly) NC_000016.10:2109776:T:C p.(Asp1797Gly) NC_000016.10:2109776:T:C Identity +NM_006219.3:c.1007T>A NP_006210.1:p.Val336Asp NC_000003.12:138733403:A:T p.(Val336Asp) NC_000003.12:138733403:A:T p.(Val336Asp) NC_000003.12:138733403:A:T Identity +NM_014602.3:c.2710A>G NP_055417.1:p.Thr904Ala NC_000003.12:130706958:T:C p.(Thr904Ala) NC_000003.12:130706958:T:C p.(Thr904Ala) NC_000003.12:130706958:T:C Identity +NM_015040.4:c.3172C>T NP_055855.2:p.Pro1058Ser NC_000002.12:208325982:C:T p.(Pro1058Ser) NC_000002.12:208325982:C:T p.(Pro1058Ser) NC_000002.12:208325982:C:T Identity +NM_001321378.2:c.772G>C NP_001308307.1:p.Val258Leu NC_000011.10:17168969:C:G p.(Val258Leu) NC_000011.10:17168969:C:G p.(Val258Leu) NC_000011.10:17168969:C:G Identity +NM_001330062.2:c.712G>A NP_001316991.1:p.Asp238Asn NC_000010.11:22541950:C:T p.(Asp238Asn) NC_000010.11:22541950:C:T p.(Asp238Asn) NC_000010.11:22541950:C:T Identity +NM_005028.5:c.149A>G NP_005019.2:p.Asn50Ser NC_000010.11:22609712:T:C p.(Asn50Ser) NC_000010.11:22609712:T:C p.(Asn50Ser) NC_000010.11:22609712:T:C Identity +NM_001130848.2:c.2147C>T NP_001124320.1:p.Ala716Val NC_000011.10:67496344:G:A p.(Ala716Val) NC_000011.10:67496344:G:A p.(Ala716Val) NC_000011.10:67496344:G:A Identity +NM_181536.2:c.3165G>T NP_853514.1:p.Gln1055His NC_000016.10:71951588:C:A p.(Gln1055His) NC_000016.10:71951588:C:A p.(Gln1055His) NC_000016.10:71951588:C:A Identity +NM_001253837.2:c.2174T>C NP_001240766.1:p.Val725Ala NC_000010.11:100288991:A:G p.(Val725Ala) NC_000010.11:100288991:A:G p.(Val725Ala) NC_000010.11:100288991:A:G Identity +NM_138370.3:c.1117G>A NP_612379.2:p.Glu373Lys NC_000002.12:42055287:G:A p.(Glu373Lys) NC_000002.12:42055287:G:A p.(Glu373Lys) NC_000002.12:42055287:G:A Identity +NM_006224.4:c.697G>C NP_006215.1:p.Asp233His NC_000017.11:1534169:C:G p.(Asp233His) NC_000017.11:1534169:C:G p.(Asp233His) NC_000017.11:1534169:C:G Identity +NM_002652.3:c.416C>T NP_002643.1:p.Thr139Ile NC_000007.14:143139616:C:T p.(Thr139Ile) NC_000007.14:143139616:C:T p.(Thr139Ile) NC_000007.14:143139616:C:T Identity +NM_001384660.1:c.2956G>T NP_001371589.1:p.Ala986Ser NC_000012.12:122989819:C:A p.(Ala986Ser) NC_000012.12:122989819:C:A p.(Ala986Ser) NC_000012.12:122989819:C:A Identity +NM_001040118.3:c.1408A>T NP_001035207.1:p.Asn470Tyr NC_000011.10:72710392:T:A p.(Asn470Tyr) NC_000011.10:72710392:T:A p.(Asn470Tyr) NC_000011.10:72710392:T:A Identity +NM_001005476.4:c.853A>G NP_001005476.1:p.Ile285Val NC_000002.12:158625126:A:G p.(Ile285Val) NC_000002.12:158625126:A:G p.(Ile285Val) NC_000002.12:158625126:A:G Identity +NM_000296.4:c.2821C>T NP_000287.4:p.Pro941Ser NC_000016.10:2114201:G:A p.(Pro941Ser) NC_000016.10:2114201:G:A p.(Pro941Ser) NC_000016.10:2114201:G:A Identity +NM_000296.4:c.3754G>A NP_000287.4:p.Val1252Met NC_000016.10:2111412:C:T p.(Val1252Met) NC_000016.10:2111412:C:T p.(Val1252Met) NC_000016.10:2111412:C:T Identity +NM_000296.4:c.10465A>G NP_000287.4:p.Thr3489Ala NC_000016.10:2097178:T:C p.(Thr3489Ala) NC_000016.10:2097178:T:C p.(Thr3489Ala) NC_000016.10:2097178:T:C Identity +NM_000296.4:c.818C>T NP_000287.4:p.Pro273Leu NC_000016.10:2118173:G:A p.(Pro273Leu) NC_000016.10:2118173:G:A p.(Pro273Leu) NC_000016.10:2118173:G:A Identity +NM_022481.6:c.1227G>T NP_071926.4:p.Lys409Asn NC_000005.10:141672791:C:A p.(Lys409Asn) NC_000005.10:141672791:C:A p.(Lys409Asn) NC_000005.10:141672791:C:A Identity +NM_001316887.2:c.118C>A NP_001303816.1:p.His40Asn NC_000023.11:134566564:G:T p.(His40Asn) NC_000023.11:134566564:G:T p.(His40Asn) NC_000023.11:134566564:G:T Identity +NM_001170585.2:c.1814G>A NP_001164056.1:p.Arg605Gln NC_000002.12:28589480:G:A p.(Arg605Gln) NC_000002.12:28589480:G:A p.(Arg605Gln) NC_000002.12:28589480:G:A Identity +NM_024829.6:c.133G>T NP_079105.4:p.Ala45Ser NC_000012.12:14553394:C:A p.(Ala45Ser) NC_000012.12:14553394:C:A p.(Ala45Ser) NC_000012.12:14553394:C:A Identity +NM_001258448.2:c.1483C>A NP_001245377.1:p.Gln495Lys NC_000005.10:137923518:C:A p.(Gln495Lys) NC_000005.10:137923518:C:A p.(Gln495Lys) NC_000005.10:137923518:C:A Identity +NM_006071.2:c.3984A>G NP_006062.1:p.Ile1328Met NC_000022.11:46259338:T:C p.(Ile1328Met) NC_000022.11:46259338:T:C p.(Ile1328Met) NC_000022.11:46259338:T:C Identity +NM_177531.6:c.9802T>A NP_803875.2:p.Tyr3268Asn NC_000008.11:109486742:T:A p.(Tyr3268Asn) NC_000008.11:109486742:T:A p.(Tyr3268Asn) NC_000008.11:109486742:T:A Identity +NM_177531.6:c.7367G>A NP_803875.2:p.Arg2456Lys NC_000008.11:109461891:G:A p.(Arg2456Lys) NC_000008.11:109461891:G:A p.(Arg2456Lys) NC_000008.11:109461891:G:A Identity +NM_138694.4:c.10799A>C NP_619639.3:p.Glu3600Ala NC_000006.12:51659326:T:G p.(Glu3600Ala) NC_000006.12:51659326:T:G p.(Glu3600Ala) NC_000006.12:51659326:T:G Identity +NM_138694.4:c.9104G>C NP_619639.3:p.Gly3035Ala NC_000006.12:51748511:C:G p.(Gly3035Ala) NC_000006.12:51748511:C:G p.(Gly3035Ala) NC_000006.12:51748511:C:G Identity +NM_177531.6:c.2927G>A NP_803875.2:p.Arg976Gln NC_000008.11:109427082:G:A p.(Arg976Gln) NC_000008.11:109427082:G:A p.(Arg976Gln) NC_000008.11:109427082:G:A Identity +NM_177531.6:c.4631G>A NP_803875.2:p.Ser1544Asn NC_000008.11:109443741:G:A p.(Ser1544Asn) NC_000008.11:109443741:G:A p.(Ser1544Asn) NC_000008.11:109443741:G:A Identity +NM_000299.4:c.977G>A NP_000290.2:p.Arg326Gln NC_000001.11:201317701:G:A p.(Arg326Gln) NC_000001.11:201317701:G:A p.(Arg326Gln) NC_000001.11:201317701:G:A Identity +NM_015230.4:c.323A>G NP_056045.2:p.Asn108Ser NC_000004.12:36229163:T:C p.(Asn108Ser) NC_000004.12:36229163:T:C p.(Asn108Ser) NC_000004.12:36229163:T:C Identity +NM_001286258.2:c.730G>A NP_001273187.1:p.Glu244Lys NC_000021.9:43028855:G:A p.(Glu244Lys) NC_000021.9:43028855:G:A p.(Glu244Lys) NC_000021.9:43028855:G:A Identity +NM_015230.4:c.235A>G NP_056045.2:p.Asn79Asp NC_000004.12:36229251:T:C p.(Asn79Asp) NC_000004.12:36229251:T:C p.(Asn79Asp) NC_000004.12:36229251:T:C Identity +NM_001363551.2:c.400G>A NP_001350480.1:p.Val134Met NC_000016.10:68255033:G:A p.(Val134Met) NC_000016.10:68255033:G:A p.(Val134Met) NC_000016.10:68255033:G:A Identity +NM_001258450.2:c.443C>T NP_001245379.1:p.Thr148Met NC_000016.10:2975540:G:A p.(Thr148Met) NC_000016.10:2975540:G:A p.(Thr148Met) NC_000016.10:2975540:G:A Identity +NM_000933.4:c.1766A>G NP_000924.3:p.His589Arg NC_000020.11:9408644:A:G p.(His589Arg) NC_000020.11:9408644:A:G p.(His589Arg) NC_000020.11:9408644:A:G Identity +NM_001165979.2:c.347C>A NP_001159451.1:p.Thr116Asn NC_000010.11:94132237:C:A p.(Thr116Asn) NC_000010.11:94132237:C:A p.(Thr116Asn) NC_000010.11:94132237:C:A Identity +NM_002660.3:c.787G>A NP_002651.2:p.Gly263Arg NC_000020.11:41163272:G:A p.(Gly263Arg) NC_000020.11:41163272:G:A p.(Gly263Arg) NC_000020.11:41163272:G:A Identity +NM_001168357.2:c.394G>T NP_001161829.1:p.Ala132Ser NC_000006.12:46714535:C:A p.(Ala132Ser) NC_000006.12:46714535:C:A p.(Ala132Ser) NC_000006.12:46714535:C:A Identity +NM_001146728.2:c.706C>T NP_001140200.2:p.Arg236Cys NC_000011.10:63463586:G:A p.(Arg236Cys) NC_000011.10:63463586:G:A p.(Arg236Cys) NC_000011.10:63463586:G:A Identity +NM_001005376.3:c.253A>G NP_001005376.1:p.Ile85Val NC_000019.10:43665372:T:C p.(Ile85Val) NC_000019.10:43665372:T:C p.(Ile85Val) NC_000019.10:43665372:T:C Identity +NM_024829.6:c.1375T>C NP_079105.4:p.Tyr459His NC_000012.12:14506265:A:G p.(Tyr459His) NC_000012.12:14506265:A:G p.(Tyr459His) NC_000012.12:14506265:A:G Identity +NM_024829.6:c.361C>G NP_079105.4:p.Leu121Val NC_000012.12:14542265:G:C p.(Leu121Val) NC_000012.12:14542265:G:C p.(Leu121Val) NC_000012.12:14542265:G:C Identity +NM_001308174.2:c.347C>T NP_001295103.1:p.Ala116Val NC_000014.9:104928789:C:T p.(Ala116Val) NC_000014.9:104928789:C:T p.(Ala116Val) NC_000014.9:104928789:C:T Identity +NM_001281482.2:c.818C>G NP_001268411.1:p.Ser273Cys NC_000020.11:63285696:C:G p.(Ser273Cys) NC_000020.11:63285696:C:G p.(Ser273Cys) NC_000020.11:63285696:C:G Identity +NM_001303012.2:c.2812C>A NP_001289941.1:p.Pro938Thr NC_000001.11:2502342:C:A p.(Pro938Thr) NC_000001.11:2502342:C:A p.(Pro938Thr) NC_000001.11:2502342:C:A Identity +NM_001130081.3:c.2401C>G NP_001123553.1:p.Leu801Val NC_000003.12:171644937:G:C p.(Leu801Val) NC_000003.12:171644937:G:C p.(Leu801Val) NC_000003.12:171644937:G:C Identity +NM_001007267.3:c.1019C>T NP_001007268.1:p.Ala340Val NC_000002.12:160028297:G:A p.(Ala340Val) NC_000002.12:160028297:G:A p.(Ala340Val) NC_000002.12:160028297:G:A Identity +NM_001007267.3:c.1945A>T NP_001007268.1:p.Asn649Tyr NC_000002.12:159987247:T:A p.(Asn649Tyr) NC_000002.12:159987247:T:A p.(Asn649Tyr) NC_000002.12:159987247:T:A Identity +NM_001165979.2:c.1111G>A NP_001159451.1:p.Ala371Thr NC_000010.11:94234132:G:A p.(Ala371Thr) NC_000010.11:94234132:G:A p.(Ala371Thr) NC_000010.11:94234132:G:A Identity +NM_001425749.1:c.1924G>A NP_001412678.1:p.Glu642Lys NC_000016.10:81910709:G:A p.(Glu642Lys) NC_000016.10:81910709:G:A p.(Glu642Lys) NC_000016.10:81910709:G:A Identity +NM_001303013.1:c.3032C>A NP_001289942.1:p.Pro1011His NC_000001.11:2503956:C:A p.(Pro1011His) NC_000001.11:2503956:C:A p.(Pro1011His) NC_000001.11:2503956:C:A Identity +NM_006226.4:c.3067G>A NP_006217.3:p.Ala1023Thr NC_000002.12:198103897:G:A p.(Ala1023Thr) NC_000002.12:198103897:G:A p.(Ala1023Thr) NC_000002.12:198103897:G:A Identity +NM_001197026.2:c.1511T>C NP_001183955.1:p.Leu504Pro NC_000007.14:30078737:T:C p.(Leu504Pro) NC_000007.14:30078737:T:C p.(Leu504Pro) NC_000007.14:30078737:T:C Identity +NM_001130033.2:c.211A>G NP_001123505.1:p.Asn71Asp NC_000011.10:73650668:A:G p.(Asn71Asp) NC_000011.10:73650668:A:G p.(Asn71Asp) NC_000011.10:73650668:A:G Identity +NM_001351693.2:c.3362C>T NP_001338622.1:p.Pro1121Leu NC_000019.10:39424671:C:T p.(Pro1121Leu) NC_000019.10:39424671:C:T p.(Pro1121Leu) NC_000019.10:39424671:C:T Identity +NM_001144856.2:c.377G>A NP_001138328.1:p.Arg126Gln NC_000012.12:6315086:G:A p.(Arg126Gln) NC_000012.12:6315086:G:A p.(Arg126Gln) NC_000012.12:6315086:G:A Identity +NM_001308174.2:c.289C>G NP_001295103.1:p.Gln97Glu NC_000014.9:104927849:C:G p.(Gln97Glu) NC_000014.9:104927849:C:G p.(Gln97Glu) NC_000014.9:104927849:C:G Identity +NM_001281482.2:c.322G>A NP_001268411.1:p.Ala108Thr NC_000020.11:63276630:G:A p.(Ala108Thr) NC_000020.11:63276630:G:A p.(Ala108Thr) NC_000020.11:63276630:G:A Identity +NM_001001974.4:c.917C>T NP_001001974.1:p.Pro306Leu NC_000010.11:122429639:C:T p.(Pro306Leu) NC_000010.11:122429639:C:T p.(Pro306Leu) NC_000010.11:122429639:C:T Identity +NM_020904.3:c.1837T>C NP_065955.2:p.Ser613Pro NC_000019.10:48841216:A:G p.(Ser613Pro) NC_000019.10:48841216:A:G p.(Ser613Pro) NC_000019.10:48841216:A:G Identity +NM_014935.5:c.89G>A NP_055750.2:p.Arg30Gln NC_000001.11:204273638:C:T p.(Arg30Gln) NC_000001.11:204273638:C:T p.(Arg30Gln) NC_000001.11:204273638:C:T Identity +NM_001130034.2:c.401G>A NP_001123506.1:p.Arg134His NC_000011.10:73655869:G:A p.(Arg134His) NC_000011.10:73655869:G:A p.(Arg134His) NC_000011.10:73655869:G:A Identity +NM_022481.6:c.1894A>G NP_071926.4:p.Asn632Asp NC_000005.10:141671360:T:C p.(Asn632Asp) NC_000005.10:141671360:T:C p.(Asn632Asp) NC_000005.10:141671360:T:C Identity +NM_133373.5:c.1393G>A NP_588614.1:p.Glu465Lys NC_000017.11:45116651:C:T p.(Glu465Lys) NC_000017.11:45116651:C:T p.(Glu465Lys) NC_000017.11:45116651:C:T Identity +NM_001165979.2:c.2695A>T NP_001159451.1:p.Met899Leu NC_000010.11:94258863:A:T p.(Met899Leu) NC_000010.11:94258863:A:T p.(Met899Leu) NC_000010.11:94258863:A:T Identity +NM_001308174.2:c.701T>C NP_001295103.1:p.Met234Thr NC_000014.9:104930067:T:C p.(Met234Thr) NC_000014.9:104930067:T:C p.(Met234Thr) NC_000014.9:104930067:T:C Identity +NM_172069.4:c.2827C>G NP_742066.2:p.Pro943Ala NC_000002.12:43729741:C:G p.(Pro943Ala) NC_000002.12:43729741:C:G p.(Pro943Ala) NC_000002.12:43729741:C:G Identity +NM_014798.3:c.2737G>A NP_055613.1:p.Glu913Lys NC_000017.11:45445569:C:T p.(Glu913Lys) NC_000017.11:45445569:C:T p.(Glu913Lys) NC_000017.11:45445569:C:T Identity +NM_001160184.2:c.838C>T NP_001153656.1:p.Leu280Phe NC_000001.11:972086:C:T p.(Leu280Phe) NC_000001.11:972086:C:T p.(Leu280Phe) NC_000001.11:972086:C:T Identity +NM_001029884.3:c.307G>A NP_001025055.1:p.Ala103Thr NC_000006.12:150733987:G:A p.(Ala103Thr) NC_000006.12:150733987:G:A p.(Ala103Thr) NC_000006.12:150733987:G:A Identity +NM_001142293.2:c.557G>A NP_001135765.1:p.Gly186Glu NC_000022.11:42822392:C:T p.(Gly186Glu) NC_000022.11:42822392:C:T p.(Gly186Glu) NC_000022.11:42822392:C:T Identity +NM_001129727.3:c.2266G>C NP_001123199.1:p.Glu756Gln NC_000016.10:67285359:G:C p.(Glu756Gln) NC_000016.10:67285359:G:C p.(Glu756Gln) NC_000016.10:67285359:G:C Identity +NM_001129727.3:c.3290A>G NP_001123199.1:p.Asn1097Ser NC_000016.10:67288235:A:G p.(Asn1097Ser) NC_000016.10:67288235:A:G p.(Asn1097Ser) NC_000016.10:67288235:A:G Identity +NM_001144856.2:c.1232T>G NP_001138328.1:p.Leu411Arg NC_000012.12:6318376:T:G p.(Leu411Arg) NC_000012.12:6318376:T:G p.(Leu411Arg) NC_000012.12:6318376:T:G Identity +NM_172069.4:c.3671A>G NP_742066.2:p.Gln1224Arg NC_000002.12:43753635:A:G p.(Gln1224Arg) NC_000002.12:43753635:A:G p.(Gln1224Arg) NC_000002.12:43753635:A:G Identity +NM_172069.4:c.4039C>T NP_742066.2:p.Pro1347Ser NC_000002.12:43758996:C:T p.(Pro1347Ser) NC_000002.12:43758996:C:T p.(Pro1347Ser) NC_000002.12:43758996:C:T Identity +NM_001372062.1:c.140A>G NP_001358991.1:p.Gln47Arg NC_000001.11:242524136:T:C p.(Gln47Arg) NC_000001.11:242524136:T:C p.(Gln47Arg) NC_000001.11:242524136:T:C Identity +NM_001270366.2:c.422T>A NP_001257295.1:p.Leu141Gln NC_000019.10:815062:A:T p.(Leu141Gln) NC_000019.10:815062:A:T p.(Leu141Gln) NC_000019.10:815062:A:T Identity +NM_001085420.2:c.716A>G NP_001078889.1:p.His239Arg NC_000003.12:146589713:T:C p.(His239Arg) NC_000003.12:146589713:T:C p.(His239Arg) NC_000003.12:146589713:T:C Identity +NM_001395068.1:c.195T>A NP_001381997.1:p.His65Gln NC_000010.11:113766688:T:A p.(His65Gln) NC_000010.11:113766688:T:A p.(His65Gln) NC_000010.11:113766688:T:A Identity +NM_018465.4:c.152G>A NP_060935.2:p.Arg51Gln NC_000009.12:5361817:C:T p.(Arg51Gln) NC_000009.12:5361817:C:T p.(Arg51Gln) NC_000009.12:5361817:C:T Identity +NM_001145311.2:c.464G>A NP_001138783.1:p.Gly155Glu NC_000015.10:89670113:C:T p.(Gly155Glu) NC_000015.10:89670113:C:T p.(Gly155Glu) NC_000015.10:89670113:C:T Identity +NM_001029884.3:c.2285G>A NP_001025055.1:p.Arg762His NC_000006.12:150831395:G:A p.(Arg762His) NC_000006.12:150831395:G:A p.(Arg762His) NC_000006.12:150831395:G:A Identity +NM_001351693.2:c.1966G>A NP_001338622.1:p.Gly656Arg NC_000019.10:39423196:G:A p.(Gly656Arg) NC_000019.10:39423196:G:A p.(Gly656Arg) NC_000019.10:39423196:G:A Identity +NM_005030.6:c.1795C>T NP_005021.2:p.Arg599Cys NC_000016.10:23690045:C:T p.(Arg599Cys) NC_000016.10:23690045:C:T p.(Arg599Cys) NC_000016.10:23690045:C:T Identity +NM_001013706.3:c.230C>T NP_001013728.2:p.Pro77Leu NC_000019.10:4531652:G:A p.(Pro77Leu) NC_000019.10:4531652:G:A p.(Pro77Leu) NC_000019.10:4531652:G:A Identity +NM_001190799.2:c.182A>G NP_001177728.1:p.His61Arg NC_000004.12:127883493:A:G p.(His61Arg) NC_000004.12:127883493:A:G p.(His61Arg) NC_000004.12:127883493:A:G Identity +NM_001242921.1:c.208G>A NP_001229850.1:p.Gly70Arg NC_000020.11:45909528:C:T p.(Gly70Arg) NC_000020.11:45909528:C:T p.(Gly70Arg) NC_000020.11:45909528:C:T Identity +NM_001130082.3:c.5533G>A NP_001123554.1:p.Ala1845Thr NC_000003.12:48410367:C:T p.(Ala1845Thr) NC_000003.12:48410367:C:T p.(Ala1845Thr) NC_000003.12:48410367:C:T Identity +NM_001163257.2:c.4328C>T NP_001156729.1:p.Thr1443Met NC_000023.11:153775327:C:T p.(Thr1443Met) NC_000023.11:153775327:C:T p.(Thr1443Met) NC_000023.11:153775327:C:T Identity +NM_025179.4:c.4444C>T NP_079455.3:p.Arg1482Cys NC_000001.11:208039676:G:A p.(Arg1482Cys) NC_000001.11:208039676:G:A p.(Arg1482Cys) NC_000001.11:208039676:G:A Identity +NM_017514.5:c.3680G>A NP_059984.3:p.Gly1227Glu NC_000023.11:154467860:G:A p.(Gly1227Glu) NC_000023.11:154467860:G:A p.(Gly1227Glu) NC_000023.11:154467860:G:A Identity +NM_017514.5:c.3871G>C NP_059984.3:p.Glu1291Gln NC_000023.11:154468131:G:C p.(Glu1291Gln) NC_000023.11:154468131:G:C p.(Glu1291Gln) NC_000023.11:154468131:G:C Identity +NM_001130082.3:c.611C>G NP_001123554.1:p.Ala204Gly NC_000003.12:48424000:G:C p.(Ala204Gly) NC_000003.12:48424000:G:C p.(Ala204Gly) NC_000003.12:48424000:G:C Identity +NM_001270695.1:c.221G>A NP_001257624.1:p.Arg74His NC_000010.11:31908634:C:T p.(Arg74His) NC_000010.11:31908634:C:T p.(Arg74His) NC_000010.11:31908634:C:T Identity +NM_006556.4:c.89A>T NP_006547.1:p.Gln30Leu NC_000001.11:154936596:T:A p.(Gln30Leu) NC_000001.11:154936596:T:A p.(Gln30Leu) NC_000001.11:154936596:T:A Identity +NM_025179.4:c.5462T>G NP_079455.3:p.Leu1821Arg NC_000001.11:208028135:A:C p.(Leu1821Arg) NC_000001.11:208028135:A:C p.(Leu1821Arg) NC_000001.11:208028135:A:C Identity +NM_001393897.1:c.1570G>A NP_001380826.1:p.Asp524Asn NC_000007.14:132241099:C:T p.(Asp524Asn) NC_000007.14:132241099:C:T p.(Asp524Asn) NC_000007.14:132241099:C:T Identity +NM_001376864.1:c.1030C>T NP_001363793.1:p.Pro344Ser NC_000022.11:50289554:G:A p.(Pro344Ser) NC_000022.11:50289554:G:A p.(Pro344Ser) NC_000022.11:50289554:G:A Identity +NM_001163257.2:c.5440A>G NP_001156729.1:p.Ile1814Val NC_000023.11:153778056:A:G p.(Ile1814Val) NC_000023.11:153778056:A:G p.(Ile1814Val) NC_000023.11:153778056:A:G Identity +NM_000936.4:c.196T>G NP_000927.1:p.Phe66Val NC_000010.11:116547442:T:G p.(Phe66Val) NC_000010.11:116547442:T:G p.(Phe66Val) NC_000010.11:116547442:T:G Identity +NM_000936.4:c.64G>C NP_000927.1:p.Glu22Gln NC_000010.11:116547310:G:C p.(Glu22Gln) NC_000010.11:116547310:G:C p.(Glu22Gln) NC_000010.11:116547310:G:C Identity +NM_001006634.3:c.1379C>T NP_001006635.1:p.Pro460Leu NC_000016.10:24942097:G:A p.(Pro460Leu) NC_000016.10:24942097:G:A p.(Pro460Leu) NC_000016.10:24942097:G:A Identity +NM_001282535.2:c.958C>A NP_001269464.1:p.Pro320Thr NC_000023.11:153058012:C:A p.(Pro320Thr) NC_000023.11:153058012:C:A p.(Pro320Thr) NC_000023.11:153058012:C:A Identity +NM_002686.4:c.110G>T NP_002677.1:p.Arg37Leu NC_000017.11:39668584:G:T p.(Arg37Leu) NC_000017.11:39668584:G:T p.(Arg37Leu) NC_000017.11:39668584:G:T Identity +NM_002687.4:c.1752T>A NP_002678.3:p.Ser584Arg NC_000014.9:39181460:T:A p.(Ser584Arg) NC_000014.9:39181460:T:A p.(Ser584Arg) NC_000014.9:39181460:T:A Identity +NM_001357321.2:c.833G>T NP_001344250.1:p.Arg278Met NC_000002.12:43852736:G:T p.(Arg278Met) NC_000002.12:43852736:G:T p.(Arg278Met) NC_000002.12:43852736:G:T Identity +NM_001145024.1:c.249C>G NP_001138496.1:p.Asp83Glu NC_000011.10:112255524:G:C p.(Asp83Glu) NC_000011.10:112255524:G:C p.(Asp83Glu) NC_000011.10:112255524:G:C Identity +NM_001367868.2:c.187C>G NP_001354797.1:p.Gln63Glu NC_000019.10:4517562:G:C p.(Gln63Glu) NC_000019.10:4517562:G:C p.(Gln63Glu) NC_000019.10:4517562:G:C Identity +NM_001256849.1:c.377G>C NP_001243778.1:p.Arg126Pro NC_000019.10:50401837:G:C p.(Arg126Pro) NC_000019.10:50401837:G:C p.(Arg126Pro) NC_000019.10:50401837:G:C Identity +NM_020376.4:c.563C>T NP_065109.1:p.Ser188Leu NC_000011.10:822472:C:T p.(Ser188Leu) NC_000011.10:822472:C:T p.(Ser188Leu) NC_000011.10:822472:C:T Identity +NM_001367868.2:c.2332A>G NP_001354797.1:p.Lys778Glu NC_000019.10:4511627:T:C p.(Lys778Glu) NC_000019.10:4511627:T:C p.(Lys778Glu) NC_000019.10:4511627:T:C Identity +NM_015720.4:c.1321G>A NP_056535.1:p.Glu441Lys NC_000003.12:127668554:G:A p.(Glu441Lys) NC_000003.12:127668554:G:A p.(Glu441Lys) NC_000003.12:127668554:G:A Identity +NM_002689.4:c.1183A>G NP_002680.2:p.Thr395Ala NC_000011.10:65289810:A:G p.(Thr395Ala) NC_000011.10:65289810:A:G p.(Thr395Ala) NC_000011.10:65289810:A:G Identity +NM_020405.5:c.844C>G NP_065138.2:p.Arg282Gly NC_000017.11:39087669:G:C p.(Arg282Gly) NC_000017.11:39087669:G:C p.(Arg282Gly) NC_000017.11:39087669:G:C Identity +NM_032242.4:c.2369G>T NP_115618.3:p.Trp790Leu NC_000003.12:127014074:G:T p.(Trp790Leu) NC_000003.12:127014074:G:T p.(Trp790Leu) NC_000003.12:127014074:G:T Identity +NM_006231.4:c.3010G>A NP_006222.2:p.Gly1004Ser NC_000012.12:132661018:C:T p.(Gly1004Ser) NC_000012.12:132661018:C:T p.(Gly1004Ser) NC_000012.12:132661018:C:T Identity +NM_006231.4:c.1082C>T NP_006222.2:p.Thr361Ile NC_000012.12:132675758:G:A p.(Thr361Ile) NC_000012.12:132675758:G:A p.(Thr361Ile) NC_000012.12:132675758:G:A Identity +NM_001025616.3:c.1233T>G NP_001020787.2:p.Asp411Glu NC_000004.12:85994886:T:G p.(Asp411Glu) NC_000004.12:85994886:T:G p.(Asp411Glu) NC_000004.12:85994886:T:G Identity +NM_152305.3:c.591G>C NP_689518.1:p.Gln197His NC_000003.12:119485339:G:C p.(Gln197His) NC_000003.12:119485339:G:C p.(Gln197His) NC_000003.12:119485339:G:C Identity +NM_002690.3:c.452C>G NP_002681.1:p.Pro151Arg NC_000008.11:42357197:C:G p.(Pro151Arg) NC_000008.11:42357197:C:G p.(Pro151Arg) NC_000008.11:42357197:C:G Identity +NM_001256849.1:c.904G>C NP_001243778.1:p.Gly302Arg NC_000019.10:50402674:G:C p.(Gly302Arg) NC_000019.10:50402674:G:C p.(Gly302Arg) NC_000019.10:50402674:G:C Identity +NM_199420.4:c.5878T>C NP_955452.3:p.Cys1960Arg NC_000003.12:121483477:A:G p.(Cys1960Arg) NC_000003.12:121483477:A:G p.(Cys1960Arg) NC_000003.12:121483477:A:G Identity +NM_199420.4:c.5951A>G NP_955452.3:p.Gln1984Arg NC_000003.12:121483404:T:C p.(Gln1984Arg) NC_000003.12:121483404:T:C p.(Gln1984Arg) NC_000003.12:121483404:T:C Identity +NM_199420.4:c.578G>A NP_955452.3:p.Arg193Lys NC_000003.12:121539485:C:T p.(Arg193Lys) NC_000003.12:121539485:C:T p.(Arg193Lys) NC_000003.12:121539485:C:T Identity +NM_002675.4:c.1782G>C NP_002666.1:p.Arg594Ser NC_000015.10:74043059:G:C p.(Arg594Ser) NC_000015.10:74043059:G:C p.(Arg594Ser) NC_000015.10:74043059:G:C Identity +NM_000936.4:c.1341C>A NP_000927.1:p.Asn447Lys NC_000010.11:116567740:C:A p.(Asn447Lys) NC_000010.11:116567740:C:A p.(Asn447Lys) NC_000010.11:116567740:C:A Identity +NM_001303135.1:c.76G>A NP_001290064.1:p.Gly26Arg NC_000010.11:116591796:G:A p.(Gly26Arg) NC_000010.11:116591796:G:A p.(Gly26Arg) NC_000010.11:116591796:G:A Identity +NM_020709.3:c.1568C>T NP_065760.1:p.Ser523Leu NC_000019.10:46493897:G:A p.(Ser523Leu) NC_000019.10:46493897:G:A p.(Ser523Leu) NC_000019.10:46493897:G:A Identity +NM_032604.4:c.809A>G NP_115993.3:p.Glu270Gly NC_000002.12:27130121:A:G p.(Glu270Gly) NC_000002.12:27130121:A:G p.(Glu270Gly) NC_000002.12:27130121:A:G Identity +NM_025225.3:c.973G>A NP_079501.2:p.Ala325Thr NC_000022.11:43937265:G:A p.(Ala325Thr) NC_000022.11:43937265:G:A p.(Ala325Thr) NC_000022.11:43937265:G:A Identity +NM_001256007.3:c.175T>C NP_001242936.1:p.Trp59Arg NC_000007.14:108515316:A:G p.(Trp59Arg) NC_000007.14:108515316:A:G p.(Trp59Arg) NC_000007.14:108515316:A:G Identity +NM_001256849.1:c.1231C>T NP_001243778.1:p.Gln411Ter NC_000019.10:50403585:C:T p.(Gln411Ter) NC_000019.10:50403585:C:T p.(Gln411Ter) NC_000019.10:50403585:C:T Identity +NM_001363597.2:c.649G>A NP_001350526.1:p.Ala217Thr NC_000011.10:74625439:G:A p.(Ala217Thr) NC_000011.10:74625439:G:A p.(Ala217Thr) NC_000011.10:74625439:G:A Identity +NM_007215.4:c.1022A>G NP_009146.2:p.Asp341Gly NC_000017.11:64485815:T:C p.(Asp341Gly) NC_000017.11:64485815:T:C p.(Asp341Gly) NC_000017.11:64485815:T:C Identity +NM_001284330.2:c.1030G>A NP_001271259.1:p.Val344Ile NC_000007.14:44073826:C:T p.(Val344Ile) NC_000007.14:44073826:C:T p.(Val344Ile) NC_000007.14:44073826:C:T Identity +NM_001145364.3:c.653C>A NP_001138836.2:p.Pro218His NC_000007.14:73736655:G:T p.(Pro218His) NC_000007.14:73736655:G:T p.(Pro218His) NC_000007.14:73736655:G:T Identity +NM_001282290.2:c.1815G>C NP_001269219.1:p.Lys605Asn NC_000017.11:45397975:C:G p.(Lys605Asn) NC_000017.11:45397975:C:G p.(Lys605Asn) NC_000017.11:45397975:C:G Identity +NM_199420.4:c.6923T>C NP_955452.3:p.Met2308Thr NC_000003.12:121467562:A:G p.(Met2308Thr) NC_000003.12:121467562:A:G p.(Met2308Thr) NC_000003.12:121467562:A:G Identity +NM_001328664.2:c.2768T>C NP_001315593.1:p.Met923Thr NC_000001.11:94177879:A:G p.(Met923Thr) NC_000001.11:94177879:A:G p.(Met923Thr) NC_000001.11:94177879:A:G Identity +NM_000937.5:c.4079A>G NP_000928.1:p.Asn1360Ser NC_000017.11:7511565:A:G p.(Asn1360Ser) NC_000017.11:7511565:A:G p.(Asn1360Ser) NC_000017.11:7511565:A:G Identity +NM_001367447.1:c.2583G>C NP_001354376.1:p.Gln861His NC_000010.11:24607569:C:G p.(Gln861His) NC_000010.11:24607569:C:G p.(Gln861His) NC_000010.11:24607569:C:G Identity +NM_006231.4:c.6696G>A NP_006222.2:p.Met2232Ile NC_000012.12:132624955:C:T p.(Met2232Ile) NC_000012.12:132624955:C:T p.(Met2232Ile) NC_000012.12:132624955:C:T Identity +NM_006231.4:c.4345A>G NP_006222.2:p.Lys1449Glu NC_000012.12:132643505:T:C p.(Lys1449Glu) NC_000012.12:132643505:T:C p.(Lys1449Glu) NC_000012.12:132643505:T:C Identity +NM_199420.4:c.2989A>C NP_955452.3:p.Asn997His NC_000003.12:121489941:T:G p.(Asn997His) NC_000003.12:121489941:T:G p.(Asn997His) NC_000003.12:121489941:T:G Identity +NM_199420.4:c.3541A>G NP_955452.3:p.Asn1181Asp NC_000003.12:121489389:T:C p.(Asn1181Asp) NC_000003.12:121489389:T:C p.(Asn1181Asp) NC_000003.12:121489389:T:C Identity +NM_199420.4:c.5018C>T NP_955452.3:p.Thr1673Ile NC_000003.12:121487912:G:A p.(Thr1673Ile) NC_000003.12:121487912:G:A p.(Thr1673Ile) NC_000003.12:121487912:G:A Identity +NM_001025598.2:c.1367C>G NP_001020769.1:p.Pro456Arg NC_000001.11:161051366:G:C p.(Pro456Arg) NC_000001.11:161051366:G:C p.(Pro456Arg) NC_000001.11:161051366:G:C Identity +NM_001099415.3:c.2576G>A NP_001092885.2:p.Ser859Asn NC_000007.14:75421675:C:T p.(Ser859Asn) NC_000007.14:75421675:C:T p.(Ser859Asn) NC_000007.14:75421675:C:T Identity +NM_032806.6:c.1216G>C NP_116195.2:p.Glu406Gln NC_000003.12:43080215:C:G p.(Glu406Gln) NC_000003.12:43080215:C:G p.(Glu406Gln) NC_000003.12:43080215:C:G Identity +NM_001042594.2:c.568del NP_001036059.1:p.Val190fs NC_000007.14:124846986:C: p.(Val190TyrfsTer6) NC_000007.14:124846986:C: p.(Val190TyrfsTer6) NC_000007.14:124846986:C: Analogous +NM_001042594.2:c.1150C>G NP_001036059.1:p.Leu384Val NC_000007.14:124829304:G:C p.(Leu384Val) NC_000007.14:124829304:G:C p.(Leu384Val) NC_000007.14:124829304:G:C Identity +NM_001042594.2:c.1177T>C NP_001036059.1:p.Trp393Arg NC_000007.14:124829277:A:G p.(Trp393Arg) NC_000007.14:124829277:A:G p.(Trp393Arg) NC_000007.14:124829277:A:G Identity +NM_001142685.2:c.986A>G NP_001136157.1:p.Asn329Ser NC_000011.10:129040944:T:C p.(Asn329Ser) NC_000011.10:129040944:T:C p.(Asn329Ser) NC_000011.10:129040944:T:C Identity +NM_003660.4:c.1262A>C NP_003651.1:p.Lys421Thr NC_000019.10:49134049:A:C p.(Lys421Thr) NC_000019.10:49134049:A:C p.(Lys421Thr) NC_000019.10:49134049:A:C Identity +NM_002705.5:c.934G>A NP_002696.4:p.Glu312Lys NC_000016.10:4897712:C:T p.(Glu312Lys) NC_000016.10:4897712:C:T p.(Glu312Lys) NC_000016.10:4897712:C:T Identity +NM_002705.5:c.2569C>G NP_002696.4:p.Leu857Val NC_000016.10:4887172:G:C p.(Leu857Val) NC_000016.10:4887172:G:C p.(Leu857Val) NC_000016.10:4887172:G:C Identity +NM_002705.5:c.1021T>C NP_002696.4:p.Ser341Pro NC_000016.10:4895667:A:G p.(Ser341Pro) NC_000016.10:4895667:A:G p.(Ser341Pro) NC_000016.10:4895667:A:G Identity +NM_001291504.2:c.95C>A NP_001278433.1:p.Pro32His NC_000003.12:195542930:G:T p.(Pro32His) NC_000003.12:195542930:G:T p.(Pro32His) NC_000003.12:195542930:G:T Identity +NM_001291504.2:c.257G>C NP_001278433.1:p.Cys86Ser NC_000003.12:195524869:C:G p.(Cys86Ser) NC_000003.12:195524869:C:G p.(Cys86Ser) NC_000003.12:195524869:C:G Identity +NM_014811.5:c.809C>T NP_055626.3:p.Pro270Leu NC_000009.12:135485318:C:T p.(Pro270Leu) NC_000009.12:135485318:C:T p.(Pro270Leu) NC_000009.12:135485318:C:T Identity +NM_001164741.2:c.526A>G NP_001158213.1:p.Met176Val NC_000023.11:153920780:T:C p.(Met176Val) NC_000023.11:153920780:T:C p.(Met176Val) NC_000023.11:153920780:T:C Identity +NM_001080826.3:c.2708G>A NP_001074295.2:p.Gly903Asp NC_000008.11:8328073:C:T p.(Gly903Asp) NC_000008.11:8328073:C:T p.(Gly903Asp) NC_000008.11:8328073:C:T Identity +NM_001294139.1:c.400C>G NP_001281068.1:p.Leu134Val NC_000001.11:12795705:C:G p.(Leu134Val) NC_000001.11:12795705:C:G p.(Leu134Val) NC_000001.11:12795705:C:G Identity +NM_023014.1:c.560A>C NP_075390.1:p.Asn187Thr NC_000001.11:12859964:A:C p.(Asn187Thr) NC_000001.11:12859964:A:C p.(Asn187Thr) NC_000001.11:12859964:A:C Identity +NM_001198.4:c.2348G>C NP_001189.2:p.Gly783Ala NC_000006.12:106107355:G:C p.(Gly783Ala) NC_000006.12:106107355:G:C p.(Gly783Ala) NC_000006.12:106107355:G:C Identity +NM_021620.4:c.1892G>A NP_067633.2:p.Arg631His NC_000006.12:99614526:G:A p.(Arg631His) NC_000006.12:99614526:G:A p.(Arg631His) NC_000006.12:99614526:G:A Identity +NM_001376900.1:c.1904C>A NP_001363829.1:p.Pro635His NC_000005.10:23526991:C:A p.(Pro635His) NC_000005.10:23526991:C:A p.(Pro635His) NC_000005.10:23526991:C:A Identity +NM_002725.4:c.353C>T NP_002716.1:p.Pro118Leu NC_000001.11:203483536:C:T p.(Pro118Leu) NC_000001.11:203483536:C:T p.(Pro118Leu) NC_000001.11:203483536:C:T Identity +NM_001243245.3:c.463T>C NP_001230174.1:p.Ser155Pro NC_000011.10:57388578:A:G p.(Ser155Pro) NC_000011.10:57388578:A:G p.(Ser155Pro) NC_000011.10:57388578:A:G Identity +NM_006093.4:c.664G>A NP_006084.2:p.Val222Ile NC_000011.10:57376863:C:T p.(Val222Ile) NC_000011.10:57376863:C:T p.(Val222Ile) NC_000011.10:57376863:C:T Identity +NM_001242413.2:c.1007C>T NP_001229342.1:p.Pro336Leu NC_000010.11:6485162:G:A p.(Pro336Leu) NC_000010.11:6485162:G:A p.(Pro336Leu) NC_000010.11:6485162:G:A Identity +NM_001081640.2:c.4480G>A NP_001075109.1:p.Gly1494Arg NC_000008.11:47887638:C:T p.(Gly1494Arg) NC_000008.11:47887638:C:T p.(Gly1494Arg) NC_000008.11:47887638:C:T Identity +NM_001081640.2:c.2537T>C NP_001075109.1:p.Ile846Thr NC_000008.11:47915407:A:G p.(Ile846Thr) NC_000008.11:47915407:A:G p.(Ile846Thr) NC_000008.11:47915407:A:G Identity +NM_004248.3:c.1090A>G NP_004239.2:p.Met364Val NC_000010.11:118594154:T:C p.(Met364Val) NC_000010.11:118594154:T:C p.(Met364Val) NC_000010.11:118594154:T:C Identity +NM_018137.3:c.659G>A NP_060607.2:p.Ser220Asn NC_000001.11:107057373:G:A p.(Ser220Asn) NC_000001.11:107057373:G:A p.(Ser220Asn) NC_000001.11:107057373:G:A Identity +NM_001304949.2:c.401A>G NP_001291878.1:p.Asp134Gly NC_000017.11:28704140:T:C p.(Asp134Gly) NC_000017.11:28704140:T:C p.(Asp134Gly) NC_000017.11:28704140:T:C Identity +NM_025138.5:c.2192C>T NP_079414.3:p.Thr731Ile NC_000013.11:39013059:G:A p.(Thr731Ile) NC_000013.11:39013059:G:A p.(Thr731Ile) NC_000013.11:39013059:G:A Identity +NM_017922.4:c.1099G>A NP_060392.3:p.Gly367Arg NC_000014.9:45109702:G:A p.(Gly367Arg) NC_000014.9:45109702:G:A p.(Gly367Arg) NC_000014.9:45109702:G:A Identity +NM_001031698.3:c.392A>G NP_001026868.2:p.Tyr131Cys NC_000012.12:49633056:A:G p.(Tyr131Cys) NC_000012.12:49633056:A:G p.(Tyr131Cys) NC_000012.12:49633056:A:G Identity +NM_000322.5:c.40G>A NP_000313.2:p.Val14Ile NC_000006.12:42722294:C:T p.(Val14Ile) NC_000006.12:42722294:C:T p.(Val14Ile) NC_000006.12:42722294:C:T Identity +NM_001198665.2:c.2032G>A NP_001185594.1:p.Gly678Arg NC_000011.10:120457149:G:A p.(Gly678Arg) NC_000011.10:120457149:G:A p.(Gly678Arg) NC_000011.10:120457149:G:A Identity +NM_173566.3:c.790G>A NP_775837.2:p.Glu264Lys NC_000022.11:31717048:C:T p.(Glu264Lys) NC_000022.11:31717048:C:T p.(Glu264Lys) NC_000022.11:31717048:C:T Identity +NM_001329996.2:c.128C>A NP_001316925.1:p.Thr43Lys NC_000007.14:29566456:C:A p.(Thr43Lys) NC_000007.14:29566456:C:A p.(Thr43Lys) NC_000007.14:29566456:C:A Identity +NM_001134659.1:c.433T>G NP_001128131.1:p.Ser145Ala NC_000003.12:139005835:A:C p.(Ser145Ala) NC_000003.12:139005835:A:C p.(Ser145Ala) NC_000003.12:139005835:A:C Identity +NM_001190467.2:c.3440C>T NP_001177396.1:p.Ser1147Phe NC_000019.10:7869803:G:A p.(Ser1147Phe) NC_000019.10:7869803:G:A p.(Ser1147Phe) NC_000019.10:7869803:G:A Identity +NM_000951.3:c.377T>A NP_000942.1:p.Leu126Gln NC_000019.10:49588571:T:A p.(Leu126Gln) NC_000019.10:49588571:T:A p.(Leu126Gln) NC_000019.10:49588571:T:A Identity +NM_012455.3:c.2494G>A NP_036587.2:p.Val832Met NC_000002.12:113197782:G:A p.(Val832Met) NC_000002.12:113197782:G:A p.(Val832Met) NC_000002.12:113197782:G:A Identity +NM_031246.4:c.254A>G NP_112536.2:p.Asp85Gly NC_000019.10:43081056:T:C p.(Asp85Gly) NC_000019.10:43081056:T:C p.(Asp85Gly) NC_000019.10:43081056:T:C Identity +NM_033126.3:c.228G>T NP_149117.1:p.Arg76Ser NC_000008.11:86064588:C:A p.(Arg76Ser) NC_000008.11:86064588:C:A p.(Arg76Ser) NC_000008.11:86064588:C:A Identity +NM_002811.5:c.887G>A NP_002802.2:p.Ser296Asn NC_000016.10:74305644:G:A p.(Ser296Asn) NC_000016.10:74305644:G:A p.(Ser296Asn) NC_000016.10:74305644:G:A Identity +NM_001323408.2:c.253G>A NP_001310337.1:p.Val85Met NC_000020.11:1125620:G:A p.(Val85Met) NC_000020.11:1125620:G:A p.(Val85Met) NC_000020.11:1125620:G:A Identity +NM_017952.6:c.695A>G NP_060422.4:p.His232Arg NC_000002.12:86123740:A:G p.(His232Arg) NC_000002.12:86123740:A:G p.(His232Arg) NC_000002.12:86123740:A:G Identity +NM_001034842.5:c.2063A>G NP_001030014.2:p.Tyr688Cys NC_000010.11:27398534:T:C p.(Tyr688Cys) NC_000010.11:27398534:T:C p.(Tyr688Cys) NC_000010.11:27398534:T:C Identity +NM_004778.3:c.427C>T NP_004769.2:p.Arg143Cys NC_000011.10:60853295:G:A p.(Arg143Cys) NC_000011.10:60853295:G:A p.(Arg143Cys) NC_000011.10:60853295:G:A Identity +NM_001270398.2:c.1351G>A NP_001257327.1:p.Val451Ile NC_000006.12:43138946:G:A p.(Val451Ile) NC_000006.12:43138946:G:A p.(Val451Ile) NC_000006.12:43138946:G:A Identity +NM_002831.6:c.1528G>A NP_002822.2:p.Val510Met NC_000012.12:6960185:G:A p.(Val510Met) NC_000012.12:6960185:G:A p.(Val510Met) NC_000012.12:6960185:G:A Identity +NM_001377958.1:c.2560C>G NP_001364887.1:p.Gln854Glu NC_000009.12:8486256:G:C p.(Gln854Glu) NC_000009.12:8486256:G:C p.(Gln854Glu) NC_000009.12:8486256:G:C Identity +NM_001367493.1:c.3566G>T NP_001354422.1:p.Trp1189Leu NC_000002.12:130930964:G:T p.(Trp1189Leu) NC_000002.12:130930964:G:T p.(Trp1189Leu) NC_000002.12:130930964:G:T Identity +NM_001367447.1:c.1300C>G NP_001354376.1:p.His434Asp NC_000010.11:24620564:G:C p.(His434Asp) NC_000010.11:24620564:G:C p.(His434Asp) NC_000010.11:24620564:G:C Identity +NM_006231.4:c.3676C>G NP_006222.2:p.Pro1226Ala NC_000012.12:132649795:G:C p.(Pro1226Ala) NC_000012.12:132649795:G:C p.(Pro1226Ala) NC_000012.12:132649795:G:C Identity +NM_006231.4:c.6157G>A NP_006222.2:p.Asp2053Asn NC_000012.12:132632487:C:T p.(Asp2053Asn) NC_000012.12:132632487:C:T p.(Asp2053Asn) NC_000012.12:132632487:C:T Identity +NM_006231.4:c.908A>G NP_006222.2:p.Gln303Arg NC_000012.12:132676546:T:C p.(Gln303Arg) NC_000012.12:132676546:T:C p.(Gln303Arg) NC_000012.12:132676546:T:C Identity +NM_001291969.2:c.1207G>A NP_001278898.1:p.Gly403Arg NC_000006.12:43613993:G:A p.(Gly403Arg) NC_000006.12:43613993:G:A p.(Gly403Arg) NC_000006.12:43613993:G:A Identity +NM_199420.4:c.4931G>T NP_955452.3:p.Arg1644Met NC_000003.12:121487999:C:A p.(Arg1644Met) NC_000003.12:121487999:C:A p.(Arg1644Met) NC_000003.12:121487999:C:A Identity +NM_199420.4:c.4925T>G NP_955452.3:p.Leu1642Arg NC_000003.12:121488005:A:C p.(Leu1642Arg) NC_000003.12:121488005:A:C p.(Leu1642Arg) NC_000003.12:121488005:A:C Identity +NM_199420.4:c.4987A>G NP_955452.3:p.Ile1663Val NC_000003.12:121487943:T:C p.(Ile1663Val) NC_000003.12:121487943:T:C p.(Ile1663Val) NC_000003.12:121487943:T:C Identity +NM_015425.6:c.331A>T NP_056240.2:p.Thr111Ser NC_000002.12:86098711:T:A p.(Thr111Ser) NC_000002.12:86098711:T:A p.(Thr111Ser) NC_000002.12:86098711:T:A Identity +NM_001018102.3:c.16C>T NP_001018112.1:p.Arg6Cys NC_000015.10:57706857:C:T p.(Arg6Cys) NC_000015.10:57706857:C:T p.(Arg6Cys) NC_000015.10:57706857:C:T Identity +NM_001257190.3:c.2507G>T NP_001244119.1:p.Gly836Val NC_000007.14:72943294:G:T p.(Gly836Val) NC_000007.14:72943294:G:T p.(Gly836Val) NC_000007.14:72943294:G:T Identity +NM_199420.4:c.2740A>C NP_955452.3:p.Ser914Arg NC_000003.12:121490190:T:G p.(Ser914Arg) NC_000003.12:121490190:T:G p.(Ser914Arg) NC_000003.12:121490190:T:G Identity +NM_001722.3:c.886G>A NP_001713.2:p.Gly296Arg NC_000008.11:22249273:G:A p.(Gly296Arg) NC_000008.11:22249273:G:A p.(Gly296Arg) NC_000008.11:22249273:G:A Identity +NM_001258033.2:c.1511A>C NP_001244962.1:p.Glu504Ala NC_000016.10:22325922:A:C p.(Glu504Ala) NC_000016.10:22325922:A:C p.(Glu504Ala) NC_000016.10:22325922:A:C Identity +NM_001025598.2:c.2651A>T NP_001020769.1:p.Glu884Val NC_000001.11:161048369:T:A p.(Glu884Val) NC_000001.11:161048369:T:A p.(Glu884Val) NC_000001.11:161048369:T:A Identity +NM_001407805.1:c.1289C>T NP_001394734.1:p.Ala430Val NC_000019.10:623454:G:A p.(Ala430Val) NC_000019.10:623454:G:A p.(Ala430Val) NC_000019.10:623454:G:A Identity +NM_001099415.3:c.2692C>G NP_001092885.2:p.Pro898Ala NC_000007.14:75421559:G:C p.(Pro898Ala) NC_000007.14:75421559:G:C p.(Pro898Ala) NC_000007.14:75421559:G:C Identity +NM_020754.4:c.2603T>C NP_065805.2:p.Val868Ala NC_000003.12:119414531:T:C p.(Val868Ala) NC_000003.12:119414531:T:C p.(Val868Ala) NC_000003.12:119414531:T:C Identity +NM_001407805.1:c.2761C>G NP_001394734.1:p.Gln921Glu NC_000019.10:620366:G:C p.(Gln921Glu) NC_000019.10:620366:G:C p.(Gln921Glu) NC_000019.10:620366:G:C Identity +NM_001099415.3:c.2587G>A NP_001092885.2:p.Gly863Arg NC_000007.14:75421664:C:T p.(Gly863Arg) NC_000007.14:75421664:C:T p.(Gly863Arg) NC_000007.14:75421664:C:T Identity +NM_001042594.2:c.1030C>A NP_001036059.1:p.Pro344Thr NC_000007.14:124835360:G:T p.(Pro344Thr) NC_000007.14:124835360:G:T p.(Pro344Thr) NC_000007.14:124835360:G:T Identity +NM_001135934.2:c.577G>C NP_001129406.1:p.Gly193Arg NC_000013.11:37587850:C:G p.(Gly193Arg) NC_000013.11:37587850:C:G p.(Gly193Arg) NC_000013.11:37587850:C:G Identity +NM_020754.4:c.1073A>G NP_065805.2:p.Lys358Arg NC_000003.12:119401824:A:G p.(Lys358Arg) NC_000003.12:119401824:A:G p.(Lys358Arg) NC_000003.12:119401824:A:G Identity +NM_001042594.2:c.815A>G NP_001036059.1:p.Asp272Gly NC_000007.14:124841133:T:C p.(Asp272Gly) NC_000007.14:124841133:T:C p.(Asp272Gly) NC_000007.14:124841133:T:C Identity +NM_002699.4:c.277G>C NP_002690.3:p.Gly93Arg NC_000001.11:38046466:C:G p.(Gly93Arg) NC_000001.11:38046466:C:G p.(Gly93Arg) NC_000001.11:38046466:C:G Identity +NM_001136213.1:c.1481G>C NP_001129685.1:p.Ser494Thr NC_000022.11:15710994:G:C p.(Ser494Thr) NC_000022.11:15710994:G:C p.(Ser494Thr) NC_000022.11:15710994:G:C Identity +NM_001159542.3:c.493G>C NP_001153014.1:p.Ala165Pro NC_000008.11:127416358:G:C p.(Ala165Pro) NC_000008.11:127416358:G:C p.(Ala165Pro) NC_000008.11:127416358:G:C Identity +NM_001301102.2:c.179G>A NP_001288031.1:p.Arg60Gln NC_000015.10:75044428:G:A p.(Arg60Gln) NC_000015.10:75044428:G:A p.(Arg60Gln) NC_000015.10:75044428:G:A Identity +NM_001377986.2:c.1612G>A NP_001364915.1:p.Val538Ile NC_000023.11:18824032:G:A p.(Val538Ile) NC_000023.11:18824032:G:A p.(Val538Ile) NC_000023.11:18824032:G:A Identity +NM_006239.3:c.1168G>C NP_006230.2:p.Val390Leu NC_000004.12:75876438:C:G p.(Val390Leu) NC_000004.12:75876438:C:G p.(Val390Leu) NC_000004.12:75876438:C:G Identity +NM_001198915.2:c.730C>T NP_001185844.1:p.Pro244Ser NC_000012.12:27667311:C:T p.(Pro244Ser) NC_000012.12:27667311:C:T p.(Pro244Ser) NC_000012.12:27667311:C:T Identity +NM_005729.4:c.98G>A NP_005720.1:p.Gly33Asp NC_000010.11:79347645:G:A p.(Gly33Asp) NC_000010.11:79347645:G:A p.(Gly33Asp) NC_000010.11:79347645:G:A Identity +NM_001330751.2:c.2317T>A NP_001317680.1:p.Ser773Thr NC_000004.12:23795916:A:T p.(Ser773Thr) NC_000004.12:23795916:A:T p.(Ser773Thr) NC_000004.12:23795916:A:T Identity +NM_001378006.1:c.2174C>G NP_001364935.1:p.Ser725Cys NC_000011.10:70348355:C:G p.(Ser725Cys) NC_000011.10:70348355:C:G p.(Ser725Cys) NC_000011.10:70348355:C:G Identity +NM_001130858.4:c.1037A>G NP_001124330.1:p.Tyr346Cys NC_000015.10:43581025:T:C p.(Tyr346Cys) NC_000015.10:43581025:T:C p.(Tyr346Cys) NC_000015.10:43581025:T:C Identity +NM_001130858.4:c.3881A>T NP_001124330.1:p.Asp1294Val NC_000015.10:43535094:T:A p.(Asp1294Val) NC_000015.10:43535094:T:A p.(Asp1294Val) NC_000015.10:43535094:T:A Identity +NM_144641.4:c.290G>A NP_653242.3:p.Arg97Gln NC_000003.12:52246759:G:A p.(Arg97Gln) NC_000003.12:52246759:G:A p.(Arg97Gln) NC_000003.12:52246759:G:A Identity +NM_001008709.2:c.584A>C NP_001008709.1:p.Glu195Ala NC_000011.10:67399135:T:G p.(Glu195Ala) NC_000011.10:67399135:T:G p.(Glu195Ala) NC_000011.10:67399135:T:G Identity +NM_001282607.2:c.1589T>C NP_001269536.1:p.Val530Ala NC_000023.11:131088765:T:C p.(Val530Ala) NC_000023.11:131088765:T:C p.(Val530Ala) NC_000023.11:131088765:T:C Identity +NM_001378006.1:c.2306C>T NP_001364935.1:p.Thr769Ile NC_000011.10:70354337:C:T p.(Thr769Ile) NC_000011.10:70354337:C:T p.(Thr769Ile) NC_000011.10:70354337:C:T Identity +NM_015316.3:c.77C>T NP_056131.2:p.Thr26Ile NC_000014.9:103797450:G:A p.(Thr26Ile) NC_000014.9:103797450:G:A p.(Thr26Ile) NC_000014.9:103797450:G:A Identity +NM_001143883.4:c.194G>A NP_001137355.1:p.Gly65Asp NC_000001.11:120890013:G:A p.(Gly65Asp) NC_000001.11:120890013:G:A p.(Gly65Asp) NC_000001.11:120890013:G:A Identity +NM_005038.3:c.21A>C NP_005029.1:p.Gln7His NC_000004.12:158723267:T:G p.(Gln7His) NC_000004.12:158723267:T:G p.(Gln7His) NC_000004.12:158723267:T:G Identity +NM_004491.5:c.4247C>T NP_004482.4:p.Thr1416Ile NC_000019.10:47000434:C:T p.(Thr1416Ile) NC_000019.10:47000434:C:T p.(Thr1416Ile) NC_000019.10:47000434:C:T Identity +NM_002705.5:c.3367G>C NP_002696.4:p.Asp1123His NC_000016.10:4885287:C:G p.(Asp1123His) NC_000016.10:4885287:C:G p.(Asp1123His) NC_000016.10:4885287:C:G Identity +NM_002705.5:c.1615G>A NP_002696.4:p.Val539Met NC_000016.10:4893247:C:T p.(Val539Met) NC_000016.10:4893247:C:T p.(Val539Met) NC_000016.10:4893247:C:T Identity +NM_001122870.3:c.104G>A NP_001116342.1:p.Arg35Gln NC_000003.12:52248181:G:A p.(Arg35Gln) NC_000003.12:52248181:G:A p.(Arg35Gln) NC_000003.12:52248181:G:A Identity +NM_001161725.2:c.1538C>G NP_001155197.1:p.Ala513Gly NC_000014.9:101925141:C:G p.(Ala513Gly) NC_000014.9:101925141:C:G p.(Ala513Gly) NC_000014.9:101925141:C:G Identity +NM_147180.4:c.371T>C NP_671709.2:p.Leu124Pro NC_000009.12:101594550:A:G p.(Leu124Pro) NC_000009.12:101594550:A:G p.(Leu124Pro) NC_000009.12:101594550:A:G Identity +NM_147180.4:c.463G>A NP_671709.2:p.Ala155Thr NC_000009.12:101594458:C:T p.(Ala155Thr) NC_000009.12:101594458:C:T p.(Ala155Thr) NC_000009.12:101594458:C:T Identity +NM_014330.5:c.1715G>A NP_055145.3:p.Gly572Glu NC_000019.10:48875662:G:A p.(Gly572Glu) NC_000019.10:48875662:G:A p.(Gly572Glu) NC_000019.10:48875662:G:A Identity +NM_014811.5:c.2765A>C NP_055626.3:p.Gln922Pro NC_000009.12:135487274:A:C p.(Gln922Pro) NC_000009.12:135487274:A:C p.(Gln922Pro) NC_000009.12:135487274:A:C Identity +NM_002711.4:c.2018C>T NP_002702.2:p.Thr673Ile NC_000007.14:113879073:G:A p.(Thr673Ile) NC_000007.14:113879073:G:A p.(Thr673Ile) NC_000007.14:113879073:G:A Identity +NM_001130143.2:c.544C>A NP_001123615.1:p.Leu182Ile NC_000015.10:40815705:G:T p.(Leu182Ile) NC_000015.10:40815705:G:T p.(Leu182Ile) NC_000015.10:40815705:G:T Identity +NM_033215.5:c.992C>T NP_149992.3:p.Pro331Leu NC_000023.11:49270860:C:T p.(Pro331Leu) NC_000023.11:49270860:C:T p.(Pro331Leu) NC_000023.11:49270860:C:T Identity +NM_001184745.2:c.922C>T NP_001171674.1:p.His308Tyr NC_000023.11:49286649:C:T p.(His308Tyr) NC_000023.11:49286649:C:T p.(His308Tyr) NC_000023.11:49286649:C:T Identity +NM_002711.4:c.95C>T NP_002702.2:p.Thr32Ile NC_000007.14:113918901:G:A p.(Thr32Ile) NC_000007.14:113918901:G:A p.(Thr32Ile) NC_000007.14:113918901:G:A Identity +NM_001164741.2:c.2530G>A NP_001158213.1:p.Ala844Thr NC_000023.11:153909744:C:T p.(Ala844Thr) NC_000023.11:153909744:C:T p.(Ala844Thr) NC_000023.11:153909744:C:T Identity +NM_001042388.3:c.1780G>A NP_001035847.1:p.Asp594Asn NC_000018.10:9562041:C:T p.(Asp594Asn) NC_000018.10:9562041:C:T p.(Asp594Asn) NC_000018.10:9562041:C:T Identity +NM_032152.5:c.80C>T NP_115528.4:p.Pro27Leu NC_000019.10:8499727:G:A p.(Pro27Leu) NC_000019.10:8499727:G:A p.(Pro27Leu) NC_000019.10:8499727:G:A Identity +NM_023013.4:c.673C>T NP_075389.2:p.Arg225Cys NC_000001.11:12794299:C:T p.(Arg225Cys) NC_000001.11:12794299:C:T p.(Arg225Cys) NC_000001.11:12794299:C:T Identity +NM_020820.4:c.3728G>A NP_065871.3:p.Arg1243Gln NC_000020.11:48642214:C:T p.(Arg1243Gln) NC_000020.11:48642214:C:T p.(Arg1243Gln) NC_000020.11:48642214:C:T Identity +NM_024870.4:c.4410T>G NP_079146.2:p.Asp1470Glu NC_000008.11:68191784:T:G p.(Asp1470Glu) NC_000008.11:68191784:T:G p.(Asp1470Glu) NC_000008.11:68191784:T:G Identity +NM_001318025.2:c.250A>G NP_001304954.1:p.Lys84Glu NC_000003.12:73063673:A:G p.(Lys84Glu) NC_000003.12:73063673:A:G p.(Lys84Glu) NC_000003.12:73063673:A:G Identity +NM_001164160.2:c.2402C>T NP_001157632.1:p.Thr801Met NC_000011.10:68603443:C:T p.(Thr801Met) NC_000011.10:68603443:C:T p.(Thr801Met) NC_000011.10:68603443:C:T Identity +NM_001288727.2:c.446T>C NP_001275656.1:p.Ile149Thr NC_000010.11:102138721:T:C p.(Ile149Thr) NC_000010.11:102138721:T:C p.(Ile149Thr) NC_000010.11:102138721:T:C Identity +NM_001146314.2:c.12C>G NP_001139786.1:p.Ser4Arg NC_000003.12:51971658:G:C p.(Ser4Arg) NC_000003.12:51971658:G:C p.(Ser4Arg) NC_000003.12:51971658:G:C Identity +NM_001278926.2:c.19G>A NP_001265855.1:p.Ala7Thr NC_000005.10:65563455:G:A p.(Ala7Thr) NC_000005.10:65563455:G:A p.(Ala7Thr) NC_000005.10:65563455:G:A Identity +NM_001288727.2:c.829C>T NP_001275656.1:p.His277Tyr NC_000010.11:102139336:C:T p.(His277Tyr) NC_000010.11:102139336:C:T p.(His277Tyr) NC_000010.11:102139336:C:T Identity +NM_001080826.3:c.256G>A NP_001074295.2:p.Val86Met NC_000008.11:8381491:C:T p.(Val86Met) NC_000008.11:8381491:C:T p.(Val86Met) NC_000008.11:8381491:C:T Identity +NM_001321164.2:c.1699C>T NP_001308093.1:p.Leu567Phe NC_000017.11:12974263:C:T p.(Leu567Phe) NC_000017.11:12974263:C:T p.(Leu567Phe) NC_000017.11:12974263:C:T Identity +NM_032152.5:c.1304C>T NP_115528.4:p.Pro435Leu NC_000019.10:8498503:G:A p.(Pro435Leu) NC_000019.10:8498503:G:A p.(Pro435Leu) NC_000019.10:8498503:G:A Identity +NM_001300768.2:c.365A>T NP_001287697.1:p.Asn122Ile NC_000004.12:184661859:A:T p.(Asn122Ile) NC_000004.12:184661859:A:T p.(Asn122Ile) NC_000004.12:184661859:A:T Identity +NM_006252.4:c.49G>A NP_006243.2:p.Val17Met NC_000001.11:56645435:G:A p.(Val17Met) NC_000001.11:56645435:G:A p.(Val17Met) NC_000001.11:56645435:G:A Identity +NM_023014.1:c.670C>A NP_075390.1:p.Leu224Ile NC_000001.11:12860074:C:A p.(Leu224Ile) NC_000001.11:12860074:C:A p.(Leu224Ile) NC_000001.11:12860074:C:A Identity +NM_001081640.2:c.1565C>A NP_001075109.1:p.Pro522His NC_000008.11:47934022:G:T p.(Pro522His) NC_000008.11:47934022:G:T p.(Pro522His) NC_000008.11:47934022:G:T Identity +NM_001081640.2:c.4795G>C NP_001075109.1:p.Gly1599Arg NC_000008.11:47882078:C:G p.(Gly1599Arg) NC_000008.11:47882078:C:G p.(Gly1599Arg) NC_000008.11:47882078:C:G Identity +NM_001287242.2:c.2380G>T NP_001274171.1:p.Val794Phe NC_000023.11:11138867:C:A p.(Val794Phe) NC_000023.11:11138867:C:A p.(Val794Phe) NC_000023.11:11138867:C:A Identity +NM_001330484.2:c.325T>C NP_001317413.1:p.Trp109Arg NC_000002.12:27133121:A:G p.(Trp109Arg) NC_000002.12:27133121:A:G p.(Trp109Arg) NC_000002.12:27133121:A:G Identity +NM_001161546.2:c.2785G>C NP_001155018.1:p.Val929Leu NC_000005.10:139392296:C:G p.(Val929Leu) NC_000005.10:139392296:C:G p.(Val929Leu) NC_000005.10:139392296:C:G Identity +NM_001080157.2:c.419G>T NP_001073626.1:p.Cys140Phe NC_000012.12:57478654:C:A p.(Cys140Phe) NC_000012.12:57478654:C:A p.(Cys140Phe) NC_000012.12:57478654:C:A Identity +NM_003913.5:c.2011G>A NP_003904.3:p.Ala671Thr NC_000006.12:4049090:G:A p.(Ala671Thr) NC_000006.12:4049090:G:A p.(Ala671Thr) NC_000006.12:4049090:G:A Identity +NM_001243936.2:c.544G>C NP_001230865.1:p.Val182Leu NC_000017.11:18911181:G:C p.(Val182Leu) NC_000017.11:18911181:G:C p.(Val182Leu) NC_000017.11:18911181:G:C Identity +NM_020719.3:c.2948G>A NP_065770.1:p.Gly983Asp NC_000019.10:49597282:G:A p.(Gly983Asp) NC_000019.10:49597282:G:A p.(Gly983Asp) NC_000019.10:49597282:G:A Identity +NM_001320464.3:c.41G>A NP_001307393.1:p.Arg14His NC_000016.10:30651812:G:A p.(Arg14His) NC_000016.10:30651812:G:A p.(Arg14His) NC_000016.10:30651812:G:A Identity +NM_001079880.2:c.442G>T NP_001073349.1:p.Ala148Ser NC_000019.10:46710975:C:A p.(Ala148Ser) NC_000019.10:46710975:C:A p.(Ala148Ser) NC_000019.10:46710975:C:A Identity +NM_199285.3:c.25C>A NP_954979.2:p.Gln9Lys NC_000019.10:42309608:C:A p.(Gln9Lys) NC_000019.10:42309608:C:A p.(Gln9Lys) NC_000019.10:42309608:C:A Identity +NM_001387844.1:c.310G>A NP_001374773.1:p.Ala104Thr NC_000001.11:171514554:G:A p.(Ala104Thr) NC_000001.11:171514554:G:A p.(Ala104Thr) NC_000001.11:171514554:G:A Identity +NM_001242864.3:c.848C>G NP_001229793.1:p.Thr283Arg NC_000021.9:46663438:C:G p.(Thr283Arg) NC_000021.9:46663438:C:G p.(Thr283Arg) NC_000021.9:46663438:C:G Identity +NM_001378292.1:c.800G>C NP_001365221.1:p.Gly267Ala NC_000019.10:35806474:C:G p.(Gly267Ala) NC_000019.10:35806474:C:G p.(Gly267Ala) NC_000019.10:35806474:C:G Identity +NM_001081640.2:c.3146A>C NP_001075109.1:p.Gln1049Pro NC_000008.11:47902691:T:G p.(Gln1049Pro) NC_000008.11:47902691:T:G p.(Gln1049Pro) NC_000008.11:47902691:T:G Identity +NM_001081640.2:c.1858T>G NP_001075109.1:p.Phe620Val NC_000008.11:47930705:A:C p.(Phe620Val) NC_000008.11:47930705:A:C p.(Phe620Val) NC_000008.11:47930705:A:C Identity +NM_018061.4:c.286G>A NP_060531.2:p.Val96Ile NC_000001.11:108695710:G:A p.(Val96Ile) NC_000001.11:108695710:G:A p.(Val96Ile) NC_000001.11:108695710:G:A Identity +NM_001244926.2:c.1090A>G NP_001231855.1:p.Ser364Gly NC_000009.12:113290532:A:G p.(Ser364Gly) NC_000009.12:113290532:A:G p.(Ser364Gly) NC_000009.12:113290532:A:G Identity +NM_003913.5:c.904T>C NP_003904.3:p.Ser302Pro NC_000006.12:4032420:T:C p.(Ser302Pro) NC_000006.12:4032420:T:C p.(Ser302Pro) NC_000006.12:4032420:T:C Identity +NM_001330503.2:c.76C>G NP_001317432.1:p.Pro26Ala NC_000017.11:76332340:G:C p.(Pro26Ala) NC_000017.11:76332340:G:C p.(Pro26Ala) NC_000017.11:76332340:G:C Identity +NM_018137.3:c.1047C>G NP_060607.2:p.Asn349Lys NC_000001.11:107057761:C:G p.(Asn349Lys) NC_000001.11:107057761:C:G p.(Asn349Lys) NC_000001.11:107057761:C:G Identity +NM_001184824.4:c.1715A>G NP_001171753.1:p.Glu572Gly NC_000016.10:68356753:A:G p.(Glu572Gly) NC_000016.10:68356753:A:G p.(Glu572Gly) NC_000016.10:68356753:A:G Identity +NM_001258290.2:c.1333C>T NP_001245219.1:p.Arg445Cys NC_000016.10:31142760:G:A p.(Arg445Cys) NC_000016.10:31142760:G:A p.(Arg445Cys) NC_000016.10:31142760:G:A Identity +NM_014786.4:c.6025C>T NP_055601.2:p.Arg2009Trp NC_000011.10:73367612:C:T p.(Arg2009Trp) NC_000011.10:73367612:C:T p.(Arg2009Trp) NC_000011.10:73367612:C:T Identity +NM_001411127.1:c.3281A>G NP_001398056.1:p.Asp1094Gly NC_000019.10:40395355:T:C p.(Asp1094Gly) NC_000019.10:40395355:T:C p.(Asp1094Gly) NC_000019.10:40395355:T:C Identity +NM_014786.4:c.4339G>A NP_055601.2:p.Asp1447Asn NC_000011.10:73360451:G:A p.(Asp1447Asn) NC_000011.10:73360451:G:A p.(Asp1447Asn) NC_000011.10:73360451:G:A Identity +NM_001195736.3:c.337T>G NP_001182665.4:p.Ser113Ala NC_000001.11:2588351:T:G p.(Ser113Ala) NC_000001.11:2588351:T:G p.(Ser113Ala) NC_000001.11:2588351:T:G Identity +NM_001195736.3:c.475G>A NP_001182665.4:p.Asp159Asn NC_000001.11:2588585:G:A p.(Asp159Asn) NC_000001.11:2588585:G:A p.(Asp159Asn) NC_000001.11:2588585:G:A Identity +NM_145270.3:c.467G>A NP_660313.1:p.Gly156Glu NC_000016.10:563760:G:A p.(Gly156Glu) NC_000016.10:563760:G:A p.(Gly156Glu) NC_000016.10:563760:G:A Identity +NM_004638.4:c.4201C>A NP_004629.3:p.Pro1401Thr NC_000006.12:31632873:C:A p.(Pro1401Thr) NC_000006.12:31632873:C:A p.(Pro1401Thr) NC_000006.12:31632873:C:A Identity +NM_025014.2:c.2341G>A NP_079290.1:p.Ala781Thr NC_000017.11:8319569:G:A p.(Ala781Thr) NC_000017.11:8319569:G:A p.(Ala781Thr) NC_000017.11:8319569:G:A Identity +NM_004638.4:c.3904G>C NP_004629.3:p.Ala1302Pro NC_000006.12:31632576:G:C p.(Ala1302Pro) NC_000006.12:31632576:G:C p.(Ala1302Pro) NC_000006.12:31632576:G:C Identity +NM_001387844.1:c.2687C>T NP_001374773.1:p.Ala896Val NC_000001.11:171540152:C:T p.(Ala896Val) NC_000001.11:171540152:C:T p.(Ala896Val) NC_000001.11:171540152:C:T Identity +NM_001387844.1:c.3548C>G NP_001374773.1:p.Pro1183Arg NC_000001.11:171541013:C:G p.(Pro1183Arg) NC_000001.11:171541013:C:G p.(Pro1183Arg) NC_000001.11:171541013:C:G Identity +NM_080622.4:c.1306C>T NP_542189.1:p.Arg436Trp NC_000020.11:63862845:C:T p.(Arg436Trp) NC_000020.11:63862845:C:T p.(Arg436Trp) NC_000020.11:63862845:C:T Identity +NM_031246.4:c.563C>G NP_112536.2:p.Pro188Arg NC_000019.10:43075499:G:C p.(Pro188Arg) NC_000019.10:43075499:G:C p.(Pro188Arg) NC_000019.10:43075499:G:C Identity +NM_001198665.2:c.3434A>C NP_001185594.1:p.Glu1145Ala NC_000011.10:120477484:A:C p.(Glu1145Ala) NC_000011.10:120477484:A:C p.(Glu1145Ala) NC_000011.10:120477484:A:C Identity +NM_012469.4:c.166G>A NP_036601.2:p.Val56Ile NC_000020.11:63983140:G:A p.(Val56Ile) NC_000020.11:63983140:G:A p.(Val56Ile) NC_000020.11:63983140:G:A Identity +NM_175922.4:c.464A>C NP_787118.2:p.Gln155Pro NC_000006.12:166307678:T:G p.(Gln155Pro) NC_000006.12:166307678:T:G p.(Gln155Pro) NC_000006.12:166307678:T:G Identity +NM_001134659.1:c.271T>C NP_001128131.1:p.Ser91Pro NC_000003.12:139005997:A:G p.(Ser91Pro) NC_000003.12:139005997:A:G p.(Ser91Pro) NC_000003.12:139005997:A:G Identity +NM_001130955.2:c.3215C>T NP_001124427.2:p.Pro1072Leu NC_000019.10:7470152:C:T p.(Pro1072Leu) NC_000019.10:7470152:C:T p.(Pro1072Leu) NC_000019.10:7470152:C:T Identity +NM_001144932.3:c.203G>A NP_001138404.1:p.Arg68His NC_000014.9:23033669:C:T p.(Arg68His) NC_000014.9:23033669:C:T p.(Arg68His) NC_000014.9:23033669:C:T Identity +NM_002817.4:c.284C>G NP_002808.3:p.Thr95Ser NC_000011.10:244443:C:G p.(Thr95Ser) NC_000011.10:244443:C:G p.(Thr95Ser) NC_000011.10:244443:C:G Identity +NM_014614.3:c.1796A>G NP_055429.2:p.Lys599Arg NC_000002.12:53925551:T:C p.(Lys599Arg) NC_000002.12:53925551:T:C p.(Lys599Arg) NC_000002.12:53925551:T:C Identity +NM_214711.4:c.614C>A NP_999876.2:p.Ala205Asp NC_000004.12:70158865:C:A p.(Ala205Asp) NC_000004.12:70158865:C:A p.(Ala205Asp) NC_000004.12:70158865:C:A Identity +NM_001164257.2:c.131A>C NP_001157729.1:p.Lys44Thr NC_000017.11:63998776:A:C p.(Lys44Thr) NC_000017.11:63998776:A:C p.(Lys44Thr) NC_000017.11:63998776:A:C Identity +NM_004638.4:c.4559C>A NP_004629.3:p.Pro1520His NC_000006.12:31633617:C:A p.(Pro1520His) NC_000006.12:31633617:C:A p.(Pro1520His) NC_000006.12:31633617:C:A Identity +NM_014448.4:c.1792C>T NP_055263.2:p.Leu598Phe NC_000001.11:3478589:C:T p.(Leu598Phe) NC_000001.11:3478589:C:T p.(Leu598Phe) NC_000001.11:3478589:C:T Identity +NM_001174164.2:c.2372C>T NP_001167635.1:p.Ser791Phe NC_000007.14:128351183:G:A p.(Ser791Phe) NC_000007.14:128351183:G:A p.(Ser791Phe) NC_000007.14:128351183:G:A Identity +NM_006902.5:c.89C>A NP_008833.1:p.Ala30Glu NC_000001.11:170664306:C:A p.(Ala30Glu) NC_000001.11:170664306:C:A p.(Ala30Glu) NC_000001.11:170664306:C:A Identity +NM_002769.5:c.727A>G NP_002760.1:p.Ile243Val NC_000007.14:142753002:A:G p.(Ile243Val) NC_000007.14:142753002:A:G p.(Ile243Val) NC_000007.14:142753002:A:G Identity +NM_001111270.3:c.1489A>T NP_001104740.2:p.Ile497Phe NC_000012.12:57615968:A:T p.(Ile497Phe) NC_000012.12:57615968:A:T p.(Ile497Phe) NC_000012.12:57615968:A:T Identity +NM_001080492.2:c.258G>C NP_001073961.1:p.Gln86His NC_000016.10:58290963:C:G p.(Gln86His) NC_000016.10:58290963:C:G p.(Gln86His) NC_000016.10:58290963:C:G Identity +NM_001197020.2:c.303G>C NP_001183949.1:p.Trp101Cys NC_000008.11:10529654:G:C p.(Trp101Cys) NC_000008.11:10529654:G:C p.(Trp101Cys) NC_000008.11:10529654:G:C Identity +NM_014786.4:c.3757A>G NP_055601.2:p.Lys1253Glu NC_000011.10:73356267:A:G p.(Lys1253Glu) NC_000011.10:73356267:A:G p.(Lys1253Glu) NC_000011.10:73356267:A:G Identity +NM_153698.2:c.271G>A NP_714542.1:p.Val91Ile NC_000009.12:96651702:C:T p.(Val91Ile) NC_000009.12:96651702:C:T p.(Val91Ile) NC_000009.12:96651702:C:T Identity +NM_001374657.2:c.82C>T NP_001361586.1:p.Pro28Ser NC_000001.11:227815797:C:T p.(Pro28Ser) NC_000001.11:227815797:C:T p.(Pro28Ser) NC_000001.11:227815797:C:T Identity +NM_001243168.2:c.691C>T NP_001230097.1:p.Arg231Trp NC_000006.12:42925481:C:T p.(Arg231Trp) NC_000006.12:42925481:C:T p.(Arg231Trp) NC_000006.12:42925481:C:T Identity +NM_000956.4:c.809C>G NP_000947.2:p.Thr270Ser NC_000014.9:52315356:C:G p.(Thr270Ser) NC_000014.9:52315356:C:G p.(Thr270Ser) NC_000014.9:52315356:C:G Identity +NM_020440.4:c.1624T>C NP_065173.2:p.Phe542Leu NC_000001.11:116961652:T:C p.(Phe542Leu) NC_000001.11:116961652:T:C p.(Phe542Leu) NC_000001.11:116961652:T:C Identity +NM_002820.3:c.340T>C NP_002811.1:p.Tyr114His NC_000012.12:27963531:A:G p.(Tyr114His) NC_000012.12:27963531:A:G p.(Tyr114His) NC_000012.12:27963531:A:G Identity +NM_032289.4:c.2275G>C NP_115665.1:p.Gly759Arg NC_000005.10:139842432:G:C p.(Gly759Arg) NC_000005.10:139842432:G:C p.(Gly759Arg) NC_000005.10:139842432:G:C Identity +NM_001362819.2:c.1705G>A NP_001349748.1:p.Asp569Asn NC_000008.11:18804728:C:T p.(Asp569Asn) NC_000008.11:18804728:C:T p.(Asp569Asn) NC_000008.11:18804728:C:T Identity +NM_021016.4:c.691G>T NP_066296.2:p.Val231Phe NC_000019.10:42732801:C:A p.(Val231Phe) NC_000019.10:42732801:C:A p.(Val231Phe) NC_000019.10:42732801:C:A Identity +NM_001242729.2:c.76C>G NP_001229658.1:p.Leu26Val NC_000004.12:105552840:C:G p.(Leu26Val) NC_000004.12:105552840:C:G p.(Leu26Val) NC_000004.12:105552840:C:G Identity +NM_006264.3:c.3337G>A NP_006255.1:p.Ala1113Thr NC_000004.12:86758757:G:A p.(Ala1113Thr) NC_000004.12:86758757:G:A p.(Ala1113Thr) NC_000004.12:86758757:G:A Identity +NM_007039.4:c.3077T>A NP_008970.2:p.Phe1026Tyr NC_000014.9:88469656:A:T p.(Phe1026Tyr) NC_000014.9:88469656:A:T p.(Phe1026Tyr) NC_000014.9:88469656:A:T Identity +NM_031246.4:c.380G>A NP_112536.2:p.Arg127Gln NC_000019.10:43080930:C:T p.(Arg127Gln) NC_000019.10:43080930:C:T p.(Arg127Gln) NC_000019.10:43080930:C:T Identity +NM_001039970.2:c.964A>G NP_001035059.1:p.Ile322Val NC_000011.10:18733575:T:C p.(Ile322Val) NC_000011.10:18733575:T:C p.(Ile322Val) NC_000011.10:18733575:T:C Identity +NM_001367493.1:c.4364G>A NP_001354422.1:p.Gly1455Glu NC_000002.12:131040073:G:A p.(Gly1455Glu) NC_000002.12:131040073:G:A p.(Gly1455Glu) NC_000002.12:131040073:G:A Identity +NM_002840.5:c.2093C>T NP_002831.2:p.Pro698Leu NC_000001.11:43598026:C:T p.(Pro698Leu) NC_000001.11:43598026:C:T p.(Pro698Leu) NC_000001.11:43598026:C:T Identity +NM_002817.4:c.467A>G NP_002808.3:p.Tyr156Cys NC_000011.10:247346:A:G p.(Tyr156Cys) NC_000011.10:247346:A:G p.(Tyr156Cys) NC_000011.10:247346:A:G Identity +NM_014614.3:c.3391C>T NP_055429.2:p.Arg1131Cys NC_000002.12:53899911:G:A p.(Arg1131Cys) NC_000002.12:53899911:G:A p.(Arg1131Cys) NC_000002.12:53899911:G:A Identity +NM_001370518.1:c.571G>C NP_001357447.1:p.Asp191His NC_000007.14:56011868:C:G p.(Asp191His) NC_000007.14:56011868:C:G p.(Asp191His) NC_000007.14:56011868:C:G Identity +NM_002788.4:c.722A>T NP_002779.1:p.Lys241Met NC_000014.9:58270996:A:T p.(Lys241Met) NC_000014.9:58270996:A:T p.(Lys241Met) NC_000014.9:58270996:A:T Identity +NM_002817.4:c.305A>T NP_002808.3:p.Glu102Val NC_000011.10:244464:A:T p.(Glu102Val) NC_000011.10:244464:A:T p.(Glu102Val) NC_000011.10:244464:A:T Identity +NM_014614.3:c.1765A>T NP_055429.2:p.Thr589Ser NC_000002.12:53925582:T:A p.(Thr589Ser) NC_000002.12:53925582:T:A p.(Thr589Ser) NC_000002.12:53925582:T:A Identity +NM_014614.3:c.4489G>T NP_055429.2:p.Val1497Phe NC_000002.12:53887888:C:A p.(Val1497Phe) NC_000002.12:53887888:C:A p.(Val1497Phe) NC_000002.12:53887888:C:A Identity +NM_001098503.2:c.369T>G NP_001091973.1:p.Phe123Leu NC_000011.10:48121018:T:G p.(Phe123Leu) NC_000011.10:48121018:T:G p.(Phe123Leu) NC_000011.10:48121018:T:G Identity +NM_002843.4:c.2333C>G NP_002834.3:p.Thr778Arg NC_000011.10:48139665:C:G p.(Thr778Arg) NC_000011.10:48139665:C:G p.(Thr778Arg) NC_000011.10:48139665:C:G Identity +NM_001135648.3:c.3938T>C NP_001129120.1:p.Met1313Thr NC_000006.12:127976705:A:G p.(Met1313Thr) NC_000006.12:127976705:A:G p.(Met1313Thr) NC_000006.12:127976705:A:G Identity +NM_000952.5:c.610T>C NP_000943.1:p.Phe204Leu NC_000001.11:28150411:A:G p.(Phe204Leu) NC_000001.11:28150411:A:G p.(Phe204Leu) NC_000001.11:28150411:A:G Identity +NM_000264.5:c.2006A>T NP_000255.2:p.Asp669Val NC_000009.12:95468994:T:A p.(Asp669Val) NC_000009.12:95468994:T:A p.(Asp669Val) NC_000009.12:95468994:T:A Identity +NM_001099666.2:c.1193T>A NP_001093136.1:p.Val398Asp NC_000009.12:69718357:A:T p.(Val398Asp) NC_000009.12:69718357:A:T p.(Val398Asp) NC_000009.12:69718357:A:T Identity +NM_017952.6:c.553C>G NP_060422.4:p.Leu185Val NC_000002.12:86121492:C:G p.(Leu185Val) NC_000002.12:86121492:C:G p.(Leu185Val) NC_000002.12:86121492:C:G Identity +NM_001080479.3:c.4063G>T NP_001073948.2:p.Ala1355Ser NC_000005.10:73901272:G:T p.(Ala1355Ser) NC_000005.10:73901272:G:T p.(Ala1355Ser) NC_000005.10:73901272:G:T Identity +NM_000264.5:c.2998A>G NP_000255.2:p.Asn1000Asp NC_000009.12:95458182:T:C p.(Asn1000Asp) NC_000009.12:95458182:T:C p.(Asn1000Asp) NC_000009.12:95458182:T:C Identity +NM_001166292.2:c.2540G>C NP_001159764.1:p.Arg847Thr NC_000001.11:44827056:C:G p.(Arg847Thr) NC_000001.11:44827056:C:G p.(Arg847Thr) NC_000001.11:44827056:C:G Identity +NM_000958.3:c.292A>T NP_000949.1:p.Ile98Phe NC_000005.10:40681284:A:T p.(Ile98Phe) NC_000005.10:40681284:A:T p.(Ile98Phe) NC_000005.10:40681284:A:T Identity +NM_001034842.5:c.589T>C NP_001030014.2:p.Phe197Leu NC_000010.11:27413661:A:G p.(Phe197Leu) NC_000010.11:27413661:A:G p.(Phe197Leu) NC_000010.11:27413661:A:G Identity +NM_175732.3:c.587T>C NP_783859.1:p.Phe196Ser NC_000011.10:47571609:T:C p.(Phe196Ser) NC_000011.10:47571609:T:C p.(Phe196Ser) NC_000011.10:47571609:T:C Identity +NM_001145368.2:c.1019G>C NP_001138840.1:p.Arg340Pro NC_000009.12:109420582:C:G p.(Arg340Pro) NC_000009.12:109420582:C:G p.(Arg340Pro) NC_000009.12:109420582:C:G Identity +NM_005401.5:c.689T>C NP_005392.2:p.Val230Ala NC_000001.11:214397981:A:G p.(Val230Ala) NC_000001.11:214397981:A:G p.(Val230Ala) NC_000001.11:214397981:A:G Identity +NM_001193431.3:c.583G>T NP_001180360.2:p.Asp195Tyr NC_000001.11:113855006:C:A p.(Asp195Tyr) NC_000001.11:113855006:C:A p.(Asp195Tyr) NC_000001.11:113855006:C:A Identity +NM_002830.4:c.83A>C NP_002821.1:p.Glu28Ala NC_000002.12:119809935:A:C p.(Glu28Ala) NC_000002.12:119809935:A:C p.(Glu28Ala) NC_000002.12:119809935:A:C Identity +NM_001304482.2:c.2430C>A NP_001291411.1:p.His810Gln NC_000003.12:47410605:C:A p.(His810Gln) NC_000003.12:47410605:C:A p.(His810Gln) NC_000003.12:47410605:C:A Identity +NM_001145368.2:c.1471G>A NP_001138840.1:p.Val491Met NC_000009.12:109408349:C:T p.(Val491Met) NC_000009.12:109408349:C:T p.(Val491Met) NC_000009.12:109408349:C:T Identity +NM_002830.4:c.1564C>A NP_002821.1:p.Pro522Thr NC_000002.12:119946388:C:A p.(Pro522Thr) NC_000002.12:119946388:C:A p.(Pro522Thr) NC_000002.12:119946388:C:A Identity +NM_002838.5:c.350C>T NP_002829.3:p.Thr117Met NC_000001.11:198699614:C:T p.(Thr117Met) NC_000001.11:198699614:C:T p.(Thr117Met) NC_000001.11:198699614:C:T Identity +NM_002842.5:c.709C>G NP_002833.4:p.Gln237Glu NC_000019.10:55203958:G:C p.(Gln237Glu) NC_000019.10:55203958:G:C p.(Gln237Glu) NC_000019.10:55203958:G:C Identity +NM_002843.4:c.3121T>A NP_002834.3:p.Phe1041Ile NC_000011.10:48150165:T:A p.(Phe1041Ile) NC_000011.10:48150165:T:A p.(Phe1041Ile) NC_000011.10:48150165:T:A Identity +NM_001105244.2:c.10C>T NP_001098714.1:p.Leu4Phe NC_000018.10:7567827:C:T p.(Leu4Phe) NC_000018.10:7567827:C:T p.(Leu4Phe) NC_000018.10:7567827:C:T Identity +NM_002852.4:c.347C>G NP_002843.2:p.Ala116Gly NC_000003.12:157437728:C:G p.(Ala116Gly) NC_000003.12:157437728:C:G p.(Ala116Gly) NC_000003.12:157437728:C:G Identity +NM_001308267.2:c.1757C>T NP_001295196.1:p.Ala586Val NC_000007.14:157682854:G:A p.(Ala586Val) NC_000007.14:157682854:G:A p.(Ala586Val) NC_000007.14:157682854:G:A Identity +NM_001308267.2:c.511C>T NP_001295196.1:p.Arg171Trp NC_000007.14:158167215:G:A p.(Arg171Trp) NC_000007.14:158167215:G:A p.(Arg171Trp) NC_000007.14:158167215:G:A Identity +NM_001394011.1:c.5102G>T NP_001380940.1:p.Cys1701Phe NC_000019.10:5211655:C:A p.(Cys1701Phe) NC_000019.10:5211655:C:A p.(Cys1701Phe) NC_000019.10:5211655:C:A Identity +NM_001394024.1:c.2446A>G NP_001380953.1:p.Asn816Asp NC_000020.11:42199284:T:C p.(Asn816Asp) NC_000020.11:42199284:T:C p.(Asn816Asp) NC_000020.11:42199284:T:C Identity +NM_001015509.3:c.280G>A NP_001015509.1:p.Ala94Thr NC_000017.11:59697701:C:T p.(Ala94Thr) NC_000017.11:59697701:C:T p.(Ala94Thr) NC_000017.11:59697701:C:T Identity +NM_001278529.2:c.1132G>C NP_001265458.1:p.Glu378Gln NC_000014.9:21082265:G:C p.(Glu378Gln) NC_000014.9:21082265:G:C p.(Glu378Gln) NC_000014.9:21082265:G:C Identity +NM_001346116.2:c.288G>C NP_001333045.1:p.Glu96Asp NC_000001.11:1309237:G:C p.(Glu96Asp) NC_000001.11:1309237:G:C p.(Glu96Asp) NC_000001.11:1309237:G:C Identity +NM_005049.3:c.440C>A NP_005040.2:p.Thr147Asn NC_000021.9:44114737:C:A p.(Thr147Asn) NC_000021.9:44114737:C:A p.(Thr147Asn) NC_000021.9:44114737:C:A Identity +NM_012293.3:c.71C>A NP_036425.1:p.Thr24Lys NC_000002.12:1744384:G:T p.(Thr24Lys) NC_000002.12:1744384:G:T p.(Thr24Lys) NC_000002.12:1744384:G:T Identity +NM_001163940.2:c.601A>G NP_001157412.1:p.Met201Val NC_000014.9:50921024:T:C p.(Met201Val) NC_000014.9:50921024:T:C p.(Met201Val) NC_000014.9:50921024:T:C Identity +NM_001025780.3:c.626A>G NP_001020951.1:p.Tyr209Cys NC_000009.12:71870103:T:C p.(Tyr209Cys) NC_000009.12:71870103:T:C p.(Tyr209Cys) NC_000009.12:71870103:T:C Identity +NM_001171020.2:c.1567A>G NP_001164491.1:p.Arg523Gly NC_000023.11:106206998:A:G p.(Arg523Gly) NC_000023.11:106206998:A:G p.(Arg523Gly) NC_000023.11:106206998:A:G Identity +NM_001369789.1:c.1694G>A NP_001356718.1:p.Arg565Gln NC_000019.10:1370785:G:A p.(Arg565Gln) NC_000019.10:1370785:G:A p.(Arg565Gln) NC_000019.10:1370785:G:A Identity +NM_001278529.2:c.2212G>T NP_001265458.1:p.Ala738Ser NC_000014.9:21087429:G:T p.(Ala738Ser) NC_000014.9:21087429:G:T p.(Ala738Ser) NC_000014.9:21087429:G:T Identity +NM_002848.4:c.1268G>T NP_002839.1:p.Ser423Ile NC_000012.12:15508570:G:T p.(Ser423Ile) NC_000012.12:15508570:G:T p.(Ser423Ile) NC_000012.12:15508570:G:T Identity +NM_001163377.2:c.568C>T NP_001156849.1:p.Arg190Cys NC_000019.10:45698863:C:T p.(Arg190Cys) NC_000019.10:45698863:C:T p.(Arg190Cys) NC_000019.10:45698863:C:T Identity +NM_001349877.1:c.134C>A NP_001336806.1:p.Ala45Asp NC_000022.11:23145498:C:A p.(Ala45Asp) NC_000022.11:23145498:C:A p.(Ala45Asp) NC_000022.11:23145498:C:A Identity +NM_012197.4:c.1098T>G NP_036329.3:p.Asp366Glu NC_000009.12:122996601:T:G p.(Asp366Glu) NC_000009.12:122996601:T:G p.(Asp366Glu) NC_000009.12:122996601:T:G Identity +NM_001306177.2:c.1141G>A NP_001293106.1:p.Asp381Asn NC_000023.11:136680831:C:T p.(Asp381Asn) NC_000023.11:136680831:C:T p.(Asp381Asn) NC_000023.11:136680831:C:T Identity +NM_001037172.3:c.745G>T NP_001032249.1:p.Val249Leu NC_000003.12:141292506:G:T p.(Val249Leu) NC_000003.12:141292506:G:T p.(Val249Leu) NC_000003.12:141292506:G:T Identity +NM_001083308.1:c.245C>T NP_001076777.1:p.Thr82Met NC_000003.12:191461406:C:T p.(Thr82Met) NC_000003.12:191461406:C:T p.(Thr82Met) NC_000003.12:191461406:C:T Identity +NM_002862.4:c.1580G>T NP_002853.2:p.Ser527Ile NC_000020.11:25283236:G:T p.(Ser527Ile) NC_000020.11:25283236:G:T p.(Ser527Ile) NC_000020.11:25283236:G:T Identity +NM_001163940.2:c.197G>A NP_001157412.1:p.Gly66Glu NC_000014.9:50944206:C:T p.(Gly66Glu) NC_000014.9:50944206:C:T p.(Gly66Glu) NC_000014.9:50944206:C:T Identity +NM_001272073.2:c.2228A>C NP_001259002.1:p.Asp743Ala NC_000003.12:49098007:T:G p.(Asp743Ala) NC_000003.12:49098007:T:G p.(Asp743Ala) NC_000003.12:49098007:T:G Identity +NM_001135565.2:c.727G>A NP_001129037.1:p.Glu243Lys NC_000023.11:7050324:C:T p.(Glu243Lys) NC_000023.11:7050324:C:T p.(Glu243Lys) NC_000023.11:7050324:C:T Identity +NM_001282752.3:c.1499G>A NP_001269681.1:p.Gly500Asp NC_000002.12:20282999:C:T p.(Gly500Asp) NC_000002.12:20282999:C:T p.(Gly500Asp) NC_000002.12:20282999:C:T Identity +NM_005732.4:c.276A>C NP_005723.2:p.Glu92Asp NC_000005.10:132575838:A:C p.(Glu92Asp) NC_000005.10:132575838:A:C p.(Glu92Asp) NC_000005.10:132575838:A:C Identity +NM_001164269.2:c.614T>C NP_001157741.1:p.Leu205Pro NC_000015.10:40728790:T:C p.(Leu205Pro) NC_000015.10:40728790:T:C p.(Leu205Pro) NC_000015.10:40728790:T:C Identity +NM_001099218.3:c.1195G>T NP_001092688.1:p.Val399Phe NC_000002.12:17517220:C:A p.(Val399Phe) NC_000002.12:17517220:C:A p.(Val399Phe) NC_000002.12:17517220:C:A Identity +NM_001319085.2:c.1451C>T NP_001306014.1:p.Thr484Met NC_000002.12:96551816:C:T p.(Thr484Met) NC_000002.12:96551816:C:T p.(Thr484Met) NC_000002.12:96551816:C:T Identity +NM_001205262.3:c.24T>A NP_001192191.1:p.Ser8Arg NC_000008.11:94467515:A:T p.(Ser8Arg) NC_000008.11:94467515:A:T p.(Ser8Arg) NC_000008.11:94467515:A:T Identity +NM_001142548.2:c.73T>G NP_001136020.1:p.Trp25Gly NC_000001.11:46248580:T:G p.(Trp25Gly) NC_000001.11:46248580:T:G p.(Trp25Gly) NC_000001.11:46248580:T:G Identity +NM_001076786.3:c.1516A>T NP_001070254.2:p.Thr506Ser NC_000011.10:32932773:A:T p.(Thr506Ser) NC_000011.10:32932773:A:T p.(Thr506Ser) NC_000011.10:32932773:A:T Identity +NM_002864.3:c.2131C>T NP_002855.2:p.Pro711Ser NC_000012.12:9166178:G:A p.(Pro711Ser) NC_000012.12:9166178:G:A p.(Pro711Ser) NC_000012.12:9166178:G:A Identity +NM_001145520.1:c.1407A>C NP_001138992.1:p.Leu469Phe NC_000005.10:34823248:A:C p.(Leu469Phe) NC_000005.10:34823248:A:C p.(Leu469Phe) NC_000005.10:34823248:A:C Identity +NM_001283043.3:c.889C>G NP_001269972.1:p.Pro297Ala NC_000014.9:35750603:G:C p.(Pro297Ala) NC_000014.9:35750603:G:C p.(Pro297Ala) NC_000014.9:35750603:G:C Identity +NM_022337.3:c.236A>G NP_071732.1:p.Tyr79Cys NC_000011.10:88149921:T:C p.(Tyr79Cys) NC_000011.10:88149921:T:C p.(Tyr79Cys) NC_000011.10:88149921:T:C Identity +NM_001363725.2:c.4520T>C NP_001350654.1:p.Leu1507Ser NC_000006.12:157207790:T:C p.(Leu1507Ser) NC_000006.12:157207790:T:C p.(Leu1507Ser) NC_000006.12:157207790:T:C Identity +NM_001174152.2:c.963T>G NP_001167623.1:p.His321Gln NC_000009.12:125233823:T:G p.(His321Gln) NC_000009.12:125233823:T:G p.(His321Gln) NC_000009.12:125233823:T:G Identity +NM_002867.4:c.134A>T NP_002858.2:p.Asp45Val NC_000001.11:51976983:T:A p.(Asp45Val) NC_000001.11:51976983:T:A p.(Asp45Val) NC_000001.11:51976983:T:A Identity +NM_006822.3:c.593G>A NP_006813.1:p.Arg198Gln NC_000017.11:82658106:C:T p.(Arg198Gln) NC_000017.11:82658106:C:T p.(Arg198Gln) NC_000017.11:82658106:C:T Identity +NM_001278651.2:c.1667C>T NP_001265580.1:p.Ala556Val NC_000022.11:41249356:G:A p.(Ala556Val) NC_000022.11:41249356:G:A p.(Ala556Val) NC_000022.11:41249356:G:A Identity +NM_001244713.1:c.739A>G NP_001231642.1:p.Thr247Ala NC_000009.12:107322102:A:G p.(Thr247Ala) NC_000009.12:107322102:A:G p.(Thr247Ala) NC_000009.12:107322102:A:G Identity +NM_213589.3:c.2254G>A NP_998754.1:p.Val752Ile NC_000002.12:203440935:C:T p.(Val752Ile) NC_000002.12:203440935:C:T p.(Val752Ile) NC_000002.12:203440935:C:T Identity +NM_001193520.2:c.526C>T NP_001180449.1:p.Arg176Cys NC_000012.12:113119243:G:A p.(Arg176Cys) NC_000012.12:113119243:G:A p.(Arg176Cys) NC_000012.12:113119243:G:A Identity +NM_006909.3:c.2857G>C NP_008840.1:p.Asp953His NC_000005.10:81201392:G:C p.(Asp953His) NC_000005.10:81201392:G:C p.(Asp953His) NC_000005.10:81201392:G:C Identity +NM_001139488.2:c.2006G>A NP_001132960.1:p.Arg669Gln NC_000002.12:33558971:G:A p.(Arg669Gln) NC_000002.12:33558971:G:A p.(Arg669Gln) NC_000002.12:33558971:G:A Identity +NM_001139488.2:c.1144C>G NP_001132960.1:p.Pro382Ala NC_000002.12:33534382:C:G p.(Pro382Ala) NC_000002.12:33534382:C:G p.(Pro382Ala) NC_000002.12:33534382:C:G Identity +NM_001139488.2:c.1642G>A NP_001132960.1:p.Ala548Thr NC_000002.12:33558272:G:A p.(Ala548Thr) NC_000002.12:33558272:G:A p.(Ala548Thr) NC_000002.12:33558272:G:A Identity +NM_001146202.2:c.1537C>T NP_001139674.1:p.Arg513Trp NC_000019.10:38412772:G:A p.(Arg513Trp) NC_000019.10:38412772:G:A p.(Arg513Trp) NC_000019.10:38412772:G:A Identity +NM_001099218.3:c.1424C>G NP_001092688.1:p.Thr475Arg NC_000002.12:17516991:G:C p.(Thr475Arg) NC_000002.12:17516991:G:C p.(Thr475Arg) NC_000002.12:17516991:G:C Identity +NM_001321809.2:c.110A>G NP_001308738.1:p.Glu37Gly NC_000014.9:67825488:A:G p.(Glu37Gly) NC_000014.9:67825488:A:G p.(Glu37Gly) NC_000014.9:67825488:A:G Identity +NM_001319085.2:c.965G>A NP_001306014.1:p.Ser322Asn NC_000002.12:96551330:G:A p.(Ser322Asn) NC_000002.12:96551330:G:A p.(Ser322Asn) NC_000002.12:96551330:G:A Identity +NM_001142548.2:c.881T>C NP_001136020.1:p.Ile294Thr NC_000001.11:46261374:T:C p.(Ile294Thr) NC_000001.11:46261374:T:C p.(Ile294Thr) NC_000001.11:46261374:T:C Identity +NM_001366174.1:c.47A>G NP_001353103.1:p.Lys16Arg NC_000019.10:10333460:T:C p.(Lys16Arg) NC_000019.10:10333460:T:C p.(Lys16Arg) NC_000019.10:10333460:T:C Identity +NM_001366165.2:c.925C>T NP_001353094.1:p.Pro309Ser NC_000001.11:64781517:C:T p.(Pro309Ser) NC_000001.11:64781517:C:T p.(Pro309Ser) NC_000001.11:64781517:C:T Identity +NM_001083617.2:c.1964G>A NP_001077086.1:p.Arg655Lys NC_000008.11:52657864:C:T p.(Arg655Lys) NC_000008.11:52657864:C:T p.(Arg655Lys) NC_000008.11:52657864:C:T Identity +NM_001204456.2:c.698A>G NP_001191385.1:p.Tyr233Cys NC_000007.14:5064153:A:G p.(Tyr233Cys) NC_000007.14:5064153:A:G p.(Tyr233Cys) NC_000007.14:5064153:A:G Identity +NM_002894.3:c.1423A>G NP_002885.1:p.Met475Val NC_000018.10:22993249:A:G p.(Met475Val) NC_000018.10:22993249:A:G p.(Met475Val) NC_000018.10:22993249:A:G Identity +NM_002894.3:c.1456G>A NP_002885.1:p.Val486Met NC_000018.10:22993282:G:A p.(Val486Met) NC_000018.10:22993282:G:A p.(Val486Met) NC_000018.10:22993282:G:A Identity +NM_080833.3:c.880C>T NP_543023.2:p.Arg294Cys NC_000020.11:62414470:G:A p.(Arg294Cys) NC_000020.11:62414470:G:A p.(Arg294Cys) NC_000020.11:62414470:G:A Identity +NM_001287060.2:c.758T>C NP_001273989.1:p.Ile253Thr NC_000007.14:66809141:T:C p.(Ile253Thr) NC_000007.14:66809141:T:C p.(Ile253Thr) NC_000007.14:66809141:T:C Identity +NM_001347839.2:c.4612A>G NP_001334768.1:p.Ile1538Val NC_000012.12:45852734:A:G p.(Ile1538Val) NC_000012.12:45852734:A:G p.(Ile1538Val) NC_000012.12:45852734:A:G Identity +NM_020165.4:c.142C>G NP_064550.3:p.Leu48Val NC_000003.12:8948561:G:C p.(Leu48Val) NC_000003.12:8948561:G:C p.(Leu48Val) NC_000003.12:8948561:G:C Identity +NM_005732.4:c.2710G>C NP_005723.2:p.Glu904Gln NC_000005.10:132604990:G:C p.(Glu904Gln) NC_000005.10:132604990:G:C p.(Glu904Gln) NC_000005.10:132604990:G:C Identity +NM_005732.4:c.1042G>C NP_005723.2:p.Val348Leu NC_000005.10:132588079:G:C p.(Val348Leu) NC_000005.10:132588079:G:C p.(Val348Leu) NC_000005.10:132588079:G:C Identity +NM_018059.5:c.547C>G NP_060529.4:p.Gln183Glu NC_000007.14:4836593:G:C p.(Gln183Glu) NC_000007.14:4836593:G:C p.(Gln183Glu) NC_000007.14:4836593:G:C Identity +NM_001204466.2:c.2474G>A NP_001191395.1:p.Arg825Gln NC_000023.11:47186510:G:A p.(Arg825Gln) NC_000023.11:47186510:G:A p.(Arg825Gln) NC_000023.11:47186510:G:A Identity +NM_013286.5:c.340C>T NP_037418.3:p.Pro114Ser NC_000003.12:51391738:C:T p.(Pro114Ser) NC_000003.12:51391738:C:T p.(Pro114Ser) NC_000003.12:51391738:C:T Identity +NM_001143941.1:c.287G>A NP_001137413.1:p.Gly96Glu NC_000006.12:17291868:G:A p.(Gly96Glu) NC_000006.12:17291868:G:A p.(Gly96Glu) NC_000006.12:17291868:G:A Identity +NM_001300865.2:c.695C>T NP_001287794.1:p.Ser232Phe NC_000019.10:5925636:G:A p.(Ser232Phe) NC_000019.10:5925636:G:A p.(Ser232Phe) NC_000019.10:5925636:G:A Identity +NM_001243202.2:c.1177C>T NP_001230131.1:p.Arg393Cys NC_000009.12:6013374:G:A p.(Arg393Cys) NC_000009.12:6013374:G:A p.(Arg393Cys) NC_000009.12:6013374:G:A Identity +NM_001322253.2:c.2887G>A NP_001309182.1:p.Ala963Thr NC_000003.12:51646341:G:A p.(Ala963Thr) NC_000003.12:51646341:G:A p.(Ala963Thr) NC_000003.12:51646341:G:A Identity +NM_001322253.2:c.1528C>T NP_001309182.1:p.Arg510Cys NC_000003.12:51637348:C:T p.(Arg510Cys) NC_000003.12:51637348:C:T p.(Arg510Cys) NC_000003.12:51637348:C:T Identity +NM_018059.5:c.610C>T NP_060529.4:p.Arg204Trp NC_000007.14:4836530:G:A p.(Arg204Trp) NC_000007.14:4836530:G:A p.(Arg204Trp) NC_000007.14:4836530:G:A Identity +NM_001346738.2:c.305C>T NP_001333667.1:p.Pro102Leu NC_000001.11:235160570:G:A p.(Pro102Leu) NC_000001.11:235160570:G:A p.(Pro102Leu) NC_000001.11:235160570:G:A Identity +NM_001302378.2:c.1627C>T NP_001289307.1:p.His543Tyr NC_000003.12:15074509:G:A p.(His543Tyr) NC_000003.12:15074509:G:A p.(His543Tyr) NC_000003.12:15074509:G:A Identity +NM_001363648.2:c.449A>G NP_001350577.1:p.His150Arg NC_000011.10:63914685:T:C p.(His150Arg) NC_000011.10:63914685:T:C p.(His150Arg) NC_000011.10:63914685:T:C Identity +NM_001329728.2:c.1604A>G NP_001316657.1:p.Lys535Arg NC_000002.12:203448801:T:C p.(Lys535Arg) NC_000002.12:203448801:T:C p.(Lys535Arg) NC_000002.12:203448801:T:C Identity +NM_001329728.2:c.1465C>T NP_001316657.1:p.Arg489Trp NC_000002.12:203454533:G:A p.(Arg489Trp) NC_000002.12:203454533:G:A p.(Arg489Trp) NC_000002.12:203454533:G:A Identity +NM_004841.5:c.275C>G NP_004832.1:p.Ser92Cys NC_000001.11:178439465:C:G p.(Ser92Cys) NC_000001.11:178439465:C:G p.(Ser92Cys) NC_000001.11:178439465:C:G Identity +NM_001400377.1:c.2624T>A NP_001387306.1:p.Met875Lys NC_000019.10:15453161:A:T p.(Met875Lys) NC_000019.10:15453161:A:T p.(Met875Lys) NC_000019.10:15453161:A:T Identity +NM_002907.4:c.1396T>C NP_002898.2:p.Trp466Arg NC_000012.12:21473601:A:G p.(Trp466Arg) NC_000012.12:21473601:A:G p.(Trp466Arg) NC_000012.12:21473601:A:G Identity +NM_002907.4:c.819G>T NP_002898.2:p.Lys273Asn NC_000012.12:21477850:C:A p.(Lys273Asn) NC_000012.12:21477850:C:A p.(Lys273Asn) NC_000012.12:21477850:C:A Identity +NM_004312.3:c.136T>A NP_004303.2:p.Cys46Ser NC_000023.11:70270134:T:A p.(Cys46Ser) NC_000023.11:70270134:T:A p.(Cys46Ser) NC_000023.11:70270134:T:A Identity +NM_001190728.1:c.1142G>C NP_001177657.1:p.Cys381Ser NC_000009.12:127212150:G:C p.(Cys381Ser) NC_000009.12:127212150:G:C p.(Cys381Ser) NC_000009.12:127212150:G:C Identity +NM_017805.3:c.571G>A NP_060275.2:p.Gly191Ser NC_000019.10:48739211:C:T p.(Gly191Ser) NC_000019.10:48739211:C:T p.(Gly191Ser) NC_000019.10:48739211:C:T Identity +NM_006477.5:c.196G>A NP_006468.1:p.Gly66Ser NC_000022.11:29315050:C:T p.(Gly66Ser) NC_000022.11:29315050:C:T p.(Gly66Ser) NC_000022.11:29315050:C:T Identity +NM_032023.4:c.670G>A NP_114412.2:p.Val224Ile NC_000010.11:44989705:G:A p.(Val224Ile) NC_000010.11:44989705:G:A p.(Val224Ile) NC_000010.11:44989705:G:A Identity +NM_032023.4:c.779C>T NP_114412.2:p.Ala260Val NC_000010.11:44991040:C:T p.(Ala260Val) NC_000010.11:44991040:C:T p.(Ala260Val) NC_000010.11:44991040:C:T Identity +NM_001130029.2:c.442C>T NP_001123501.1:p.Arg148Cys NC_000005.10:141639587:C:T p.(Arg148Cys) NC_000005.10:141639587:C:T p.(Arg148Cys) NC_000005.10:141639587:C:T Identity +NM_001099695.2:c.601C>T NP_001093165.1:p.Pro201Ser NC_000007.14:150371670:C:T p.(Pro201Ser) NC_000007.14:150371670:C:T p.(Pro201Ser) NC_000007.14:150371670:C:T Identity +NM_001363725.2:c.107A>G NP_001350654.1:p.Asn36Ser NC_000006.12:157133051:A:G p.(Asn36Ser) NC_000006.12:157133051:A:G p.(Asn36Ser) NC_000006.12:157133051:A:G Identity +NM_002887.4:c.1420A>G NP_002878.2:p.Met474Val NC_000005.10:168510653:A:G p.(Met474Val) NC_000005.10:168510653:A:G p.(Met474Val) NC_000005.10:168510653:A:G Identity +NM_004841.5:c.1840A>G NP_004832.1:p.Lys614Glu NC_000001.11:178456771:A:G p.(Lys614Glu) NC_000001.11:178456771:A:G p.(Lys614Glu) NC_000001.11:178456771:A:G Identity +NM_001131065.1:c.335A>G NP_001124537.1:p.His112Arg NC_000005.10:95654332:A:G p.(His112Arg) NC_000005.10:95654332:A:G p.(His112Arg) NC_000005.10:95654332:A:G Identity +NM_144629.3:c.647A>G NP_653230.2:p.His216Arg NC_000002.12:197633788:T:C p.(His216Arg) NC_000002.12:197633788:T:C p.(His216Arg) NC_000002.12:197633788:T:C Identity +NM_001366174.1:c.2011G>A NP_001353103.1:p.Gly671Ser NC_000019.10:10317587:C:T p.(Gly671Ser) NC_000019.10:10317587:C:T p.(Gly671Ser) NC_000019.10:10317587:C:T Identity +NM_000321.3:c.1315G>A NP_000312.2:p.Val439Ile NC_000013.11:48377016:G:A p.(Val439Ile) NC_000013.11:48377016:G:A p.(Val439Ile) NC_000013.11:48377016:G:A Identity +NM_001083617.2:c.3458C>T NP_001077086.1:p.Ala1153Val NC_000008.11:52656370:G:A p.(Ala1153Val) NC_000008.11:52656370:G:A p.(Ala1153Val) NC_000008.11:52656370:G:A Identity +NM_080833.3:c.535C>G NP_543023.2:p.Arg179Gly NC_000020.11:62415796:G:C p.(Arg179Gly) NC_000020.11:62415796:G:C p.(Arg179Gly) NC_000020.11:62415796:G:C Identity +NM_017805.3:c.1523G>A NP_060275.2:p.Gly508Glu NC_000019.10:48729246:C:T p.(Gly508Glu) NC_000019.10:48729246:C:T p.(Gly508Glu) NC_000019.10:48729246:C:T Identity +NM_001206957.2:c.202C>A NP_001193886.1:p.Arg68Ser NC_000003.12:50331663:G:T p.(Arg68Ser) NC_000003.12:50331663:G:T p.(Arg68Ser) NC_000003.12:50331663:G:T Identity +NM_001286609.2:c.1907A>G NP_001273538.1:p.Asn636Ser NC_000006.12:108965095:A:G p.(Asn636Ser) NC_000006.12:108965095:A:G p.(Asn636Ser) NC_000006.12:108965095:A:G Identity +NM_024805.3:c.940G>A NP_079081.2:p.Glu314Lys NC_000018.10:80046062:G:A p.(Glu314Lys) NC_000018.10:80046062:G:A p.(Glu314Lys) NC_000018.10:80046062:G:A Identity +NM_001077351.2:c.277A>G NP_001070819.1:p.Ser93Gly NC_000014.9:22906318:T:C p.(Ser93Gly) NC_000014.9:22906318:T:C p.(Ser93Gly) NC_000014.9:22906318:T:C Identity +NM_001206671.4:c.187C>G NP_001193600.1:p.Pro63Ala NC_000011.10:8140130:G:C p.(Pro63Ala) NC_000011.10:8140130:G:C p.(Pro63Ala) NC_000011.10:8140130:G:C Identity +NM_001204456.2:c.1252A>G NP_001191385.1:p.Thr418Ala NC_000007.14:5064707:A:G p.(Thr418Ala) NC_000007.14:5064707:A:G p.(Thr418Ala) NC_000007.14:5064707:A:G Identity +NM_004582.4:c.71C>T NP_004573.2:p.Ala24Val NC_000001.11:75787563:C:T p.(Ala24Val) NC_000001.11:75787563:C:T p.(Ala24Val) NC_000001.11:75787563:C:T Identity +NM_001173988.2:c.830A>G NP_001167459.1:p.Glu277Gly NC_000009.12:136837362:A:G p.(Glu277Gly) NC_000009.12:136837362:A:G p.(Glu277Gly) NC_000009.12:136837362:A:G Identity +NM_006265.3:c.1460C>T NP_006256.1:p.Pro487Leu NC_000008.11:116851957:G:A p.(Pro487Leu) NC_000008.11:116851957:G:A p.(Pro487Leu) NC_000008.11:116851957:G:A Identity +NM_006265.3:c.1228G>A NP_006256.1:p.Ala410Thr NC_000008.11:116852641:C:T p.(Ala410Thr) NC_000008.11:116852641:C:T p.(Ala410Thr) NC_000008.11:116852641:C:T Identity +NM_001164270.2:c.314G>C NP_001157742.1:p.Gly105Ala NC_000015.10:40706264:G:C p.(Gly105Ala) NC_000015.10:40706264:G:C p.(Gly105Ala) NC_000015.10:40706264:G:C Identity +NM_001377960.1:c.1313G>A NP_001364889.1:p.Gly438Asp NC_000008.11:93735097:C:T p.(Gly438Asp) NC_000008.11:93735097:C:T p.(Gly438Asp) NC_000008.11:93735097:C:T Identity +NM_002900.3:c.605G>A NP_002891.1:p.Arg202His NC_000010.11:47349088:G:A p.(Arg202His) NC_000010.11:47349088:G:A p.(Arg202His) NC_000010.11:47349088:G:A Identity +NM_052960.3:c.92G>A NP_443192.1:p.Arg31His NC_000001.11:10007587:G:A p.(Arg31His) NC_000001.11:10007587:G:A p.(Arg31His) NC_000001.11:10007587:G:A Identity +NM_001286445.3:c.3092A>G NP_001273374.1:p.Asp1031Gly NC_000006.12:24806424:T:C p.(Asp1031Gly) NC_000006.12:24806424:T:C p.(Asp1031Gly) NC_000006.12:24806424:T:C Identity +NM_001329191.2:c.154C>G NP_001316120.1:p.Gln52Glu NC_000009.12:5300246:G:C p.(Gln52Glu) NC_000009.12:5300246:G:C p.(Gln52Glu) NC_000009.12:5300246:G:C Identity +NM_001288794.2:c.659G>C NP_001275723.1:p.Arg220Pro NC_000005.10:178144072:G:C p.(Arg220Pro) NC_000005.10:178144072:G:C p.(Arg220Pro) NC_000005.10:178144072:G:C Identity +NM_001198951.1:c.397T>G NP_001185880.1:p.Trp133Gly NC_000002.12:86612231:A:C p.(Trp133Gly) NC_000002.12:86612231:A:C p.(Trp133Gly) NC_000002.12:86612231:A:C Identity +NM_007148.5:c.467A>C NP_009079.2:p.Asn156Thr NC_000017.11:19413022:A:C p.(Asn156Thr) NC_000017.11:19413022:A:C p.(Asn156Thr) NC_000017.11:19413022:A:C Identity +NM_001260492.2:c.758A>G NP_001247421.1:p.Lys253Arg NC_000011.10:110255325:T:C p.(Lys253Arg) NC_000011.10:110255325:T:C p.(Lys253Arg) NC_000011.10:110255325:T:C Identity +NM_001316345.2:c.539T>C NP_001303274.1:p.Leu180Pro NC_000009.12:36091180:T:C p.(Leu180Pro) NC_000009.12:36091180:T:C p.(Leu180Pro) NC_000009.12:36091180:T:C Identity +NM_001321809.2:c.412G>A NP_001308738.1:p.Val138Met NC_000014.9:67865098:G:A p.(Val138Met) NC_000014.9:67865098:G:A p.(Val138Met) NC_000014.9:67865098:G:A Identity +NM_001321809.2:c.965T>C NP_001308738.1:p.Ile322Thr NC_000014.9:68468178:T:C p.(Ile322Thr) NC_000014.9:68468178:T:C p.(Ile322Thr) NC_000014.9:68468178:T:C Identity +NM_001205263.2:c.322C>T NP_001192192.1:p.Leu108Phe NC_000008.11:94404146:G:A p.(Leu108Phe) NC_000008.11:94404146:G:A p.(Leu108Phe) NC_000008.11:94404146:G:A Identity +NM_001142548.2:c.443T>C NP_001136020.1:p.Ile148Thr NC_000001.11:46260576:T:C p.(Ile148Thr) NC_000001.11:46260576:T:C p.(Ile148Thr) NC_000001.11:46260576:T:C Identity +NM_001142548.2:c.2110G>A NP_001136020.1:p.Ala704Thr NC_000001.11:46278147:G:A p.(Ala704Thr) NC_000001.11:46278147:G:A p.(Ala704Thr) NC_000001.11:46278147:G:A Identity +NM_194272.3:c.431G>A NP_919248.1:p.Gly144Glu NC_000015.10:64748554:C:T p.(Gly144Glu) NC_000015.10:64748554:C:T p.(Gly144Glu) NC_000015.10:64748554:C:T Identity +NM_002907.4:c.1447G>C NP_002898.2:p.Ala483Pro NC_000012.12:21473550:C:G p.(Ala483Pro) NC_000012.12:21473550:C:G p.(Ala483Pro) NC_000012.12:21473550:C:G Identity +NM_001413017.1:c.2339C>T NP_001399946.1:p.Pro780Leu NC_000008.11:144512968:G:A p.(Pro780Leu) NC_000008.11:144512968:G:A p.(Pro780Leu) NC_000008.11:144512968:G:A Identity +NM_001257328.2:c.551A>G NP_001244257.1:p.Asn184Ser NC_000017.11:4717889:A:G p.(Asn184Ser) NC_000017.11:4717889:A:G p.(Asn184Ser) NC_000017.11:4717889:A:G Identity +NM_001413017.1:c.939C>G NP_001399946.1:p.Ser313Arg NC_000008.11:144516179:G:C p.(Ser313Arg) NC_000008.11:144516179:G:C p.(Ser313Arg) NC_000008.11:144516179:G:C Identity +NM_004259.7:c.1709C>T NP_004250.4:p.Thr570Ile NC_000017.11:75630627:G:A p.(Thr570Ile) NC_000017.11:75630627:G:A p.(Thr570Ile) NC_000017.11:75630627:G:A Identity +NM_001271803.2:c.284C>T NP_001258732.1:p.Thr95Met NC_000005.10:138444515:C:T p.(Thr95Met) NC_000005.10:138444515:C:T p.(Thr95Met) NC_000005.10:138444515:C:T Identity +NM_002580.3:c.467T>G NP_002571.1:p.Leu156Arg NC_000002.12:79157286:A:C p.(Leu156Arg) NC_000002.12:79157286:A:C p.(Leu156Arg) NC_000002.12:79157286:A:C Identity +NM_019592.7:c.1229A>G NP_062538.5:p.His410Arg NC_000009.12:101550741:A:G p.(His410Arg) NC_000009.12:101550741:A:G p.(His410Arg) NC_000009.12:101550741:A:G Identity +NM_207396.3:c.404G>T NP_997279.2:p.Arg135Leu NC_000001.11:6208959:G:T p.(Arg135Leu) NC_000001.11:6208959:G:T p.(Arg135Leu) NC_000001.11:6208959:G:T Identity +NM_002907.4:c.1175G>C NP_002898.2:p.Ser392Thr NC_000012.12:21475508:C:G p.(Ser392Thr) NC_000012.12:21475508:C:G p.(Ser392Thr) NC_000012.12:21475508:C:G Identity +NM_001413017.1:c.304G>C NP_001399946.1:p.Val102Leu NC_000008.11:144517099:C:G p.(Val102Leu) NC_000008.11:144517099:C:G p.(Val102Leu) NC_000008.11:144517099:C:G Identity +NM_001267617.2:c.1228T>C NP_001254546.1:p.Tyr410His NC_000003.12:35729466:T:C p.(Tyr410His) NC_000003.12:35729466:T:C p.(Tyr410His) NC_000003.12:35729466:T:C Identity +NM_016125.4:c.46G>A NP_057209.3:p.Gly16Ser NC_000017.11:59964617:C:T p.(Gly16Ser) NC_000017.11:59964617:C:T p.(Gly16Ser) NC_000017.11:59964617:C:T Identity +NM_212556.4:c.595G>C NP_997721.2:p.Gly199Arg NC_000002.12:236237689:C:G p.(Gly199Arg) NC_000002.12:236237689:C:G p.(Gly199Arg) NC_000002.12:236237689:C:G Identity +NM_001301088.2:c.1880C>T NP_001288017.1:p.Pro627Leu NC_000011.10:124887096:G:A p.(Pro627Leu) NC_000011.10:124887096:G:A p.(Pro627Leu) NC_000011.10:124887096:G:A Identity +NM_001321643.2:c.3107A>T NP_001308572.1:p.Gln1036Leu NC_000002.12:11197262:T:A p.(Gln1036Leu) NC_000002.12:11197262:T:A p.(Gln1036Leu) NC_000002.12:11197262:T:A Identity +NM_018169.4:c.3620G>A NP_060639.4:p.Cys1207Tyr NC_000012.12:31984574:G:A p.(Cys1207Tyr) NC_000012.12:31984574:G:A p.(Cys1207Tyr) NC_000012.12:31984574:G:A Identity +NM_001007089.4:c.539T>C NP_001007090.3:p.Val180Ala NC_000002.12:219329178:A:G p.(Val180Ala) NC_000002.12:219329178:A:G p.(Val180Ala) NC_000002.12:219329178:A:G Identity +NM_001355216.2:c.2346G>C NP_001342145.1:p.Glu782Asp NC_000010.11:43126642:G:C p.(Glu782Asp) NC_000010.11:43126642:G:C p.(Glu782Asp) NC_000010.11:43126642:G:C Identity +NM_001202429.2:c.1838T>C NP_001189358.1:p.Ile613Thr NC_000014.9:93934725:A:G p.(Ile613Thr) NC_000014.9:93934725:A:G p.(Ile613Thr) NC_000014.9:93934725:A:G Identity +NM_001378891.1:c.3311C>T NP_001365820.1:p.Pro1104Leu NC_000006.12:117362660:G:A p.(Pro1104Leu) NC_000006.12:117362660:G:A p.(Pro1104Leu) NC_000006.12:117362660:G:A Identity +NM_001202429.2:c.589G>C NP_001189358.1:p.Glu197Gln NC_000014.9:93953396:C:G p.(Glu197Gln) NC_000014.9:93953396:C:G p.(Glu197Gln) NC_000014.9:93953396:C:G Identity +NM_001378891.1:c.4562C>A NP_001365820.1:p.Thr1521Lys NC_000006.12:117342494:G:T p.(Thr1521Lys) NC_000006.12:117342494:G:T p.(Thr1521Lys) NC_000006.12:117342494:G:T Identity +NM_001034850.3:c.439T>C NP_001030022.1:p.Trp147Arg NC_000005.10:16565781:A:G p.(Trp147Arg) NC_000005.10:16565781:A:G p.(Trp147Arg) NC_000005.10:16565781:A:G Identity +NM_017750.4:c.431T>G NP_060220.3:p.Leu144Arg NC_000002.12:85350945:A:C p.(Leu144Arg) NC_000002.12:85350945:A:C p.(Leu144Arg) NC_000002.12:85350945:A:C Identity +NM_001267727.2:c.589A>T NP_001254656.1:p.Thr197Ser NC_000017.11:68356688:A:T p.(Thr197Ser) NC_000017.11:68356688:A:T p.(Thr197Ser) NC_000017.11:68356688:A:T Identity +NM_001097590.3:c.349G>A NP_001091059.1:p.Val117Ile NC_000010.11:15103662:G:A p.(Val117Ile) NC_000010.11:15103662:G:A p.(Val117Ile) NC_000010.11:15103662:G:A Identity +NM_001354011.2:c.613C>T NP_001340940.1:p.Pro205Ser NC_000023.11:55753421:C:T p.(Pro205Ser) NC_000023.11:55753421:C:T p.(Pro205Ser) NC_000023.11:55753421:C:T Identity +NM_001271851.2:c.167G>A NP_001258780.1:p.Gly56Asp NC_000001.11:38859479:C:T p.(Gly56Asp) NC_000001.11:38859479:C:T p.(Gly56Asp) NC_000001.11:38859479:C:T Identity +NM_182588.3:c.4900T>C NP_872394.2:p.Tyr1634His NC_000002.12:107872903:T:C p.(Tyr1634His) NC_000002.12:107872903:T:C p.(Tyr1634His) NC_000002.12:107872903:T:C Identity +NM_001394154.1:c.2389G>A NP_001381083.1:p.Ala797Thr NC_000004.12:3416082:G:A p.(Ala797Thr) NC_000004.12:3416082:G:A p.(Ala797Thr) NC_000004.12:3416082:G:A Identity +NM_001286692.2:c.2488G>C NP_001273621.1:p.Asp830His NC_000008.11:100004028:C:G p.(Asp830His) NC_000008.11:100004028:C:G p.(Asp830His) NC_000008.11:100004028:C:G Identity +NM_198467.3:c.389T>A NP_940869.2:p.Val130Asp NC_000007.14:77696857:T:A p.(Val130Asp) NC_000007.14:77696857:T:A p.(Val130Asp) NC_000007.14:77696857:T:A Identity +NM_001085399.2:c.358A>G NP_001078868.1:p.Ile120Val NC_000004.12:37647394:T:C p.(Ile120Val) NC_000004.12:37647394:T:C p.(Ile120Val) NC_000004.12:37647394:T:C Identity +NM_173527.3:c.232C>T NP_775798.2:p.Arg78Trp NC_000014.9:22884801:C:T p.(Arg78Trp) NC_000014.9:22884801:C:T p.(Arg78Trp) NC_000014.9:22884801:C:T Identity +NM_001406743.1:c.200G>T NP_001393672.1:p.Arg67Leu NC_000010.11:43100584:G:T p.(Arg67Leu) NC_000010.11:43100584:G:T p.(Arg67Leu) NC_000010.11:43100584:G:T Identity +NM_032784.5:c.539T>C NP_116173.2:p.Ile180Thr NC_000006.12:127155342:T:C p.(Ile180Thr) NC_000006.12:127155342:T:C p.(Ile180Thr) NC_000006.12:127155342:T:C Identity +NM_001137669.2:c.787T>C NP_001131141.1:p.Ser263Pro NC_000001.11:182473897:T:C p.(Ser263Pro) NC_000001.11:182473897:T:C p.(Ser263Pro) NC_000001.11:182473897:T:C Identity +NM_001167608.3:c.854G>A NP_001161080.1:p.Arg285Gln NC_000002.12:226914348:G:A p.(Arg285Gln) NC_000002.12:226914348:G:A p.(Arg285Gln) NC_000002.12:226914348:G:A Identity +NM_019034.3:c.388G>C NP_061907.2:p.Gly130Arg NC_000012.12:121780954:C:G p.(Gly130Arg) NC_000012.12:121780954:C:G p.(Gly130Arg) NC_000012.12:121780954:C:G Identity +NM_018059.5:c.1336C>T NP_060529.4:p.His446Tyr NC_000007.14:4834686:G:A p.(His446Tyr) NC_000007.14:4834686:G:A p.(His446Tyr) NC_000007.14:4834686:G:A Identity +NM_001283043.3:c.1387C>T NP_001269972.1:p.Pro463Ser NC_000014.9:35742429:G:A p.(Pro463Ser) NC_000014.9:35742429:G:A p.(Pro463Ser) NC_000014.9:35742429:G:A Identity +NM_020343.4:c.4494C>A NP_065076.2:p.Ser1498Arg NC_000020.11:20512874:G:T p.(Ser1498Arg) NC_000020.11:20512874:G:T p.(Ser1498Arg) NC_000020.11:20512874:G:T Identity +NM_001283009.2:c.1225C>T NP_001269938.1:p.Pro409Ser NC_000020.11:63685555:C:T p.(Pro409Ser) NC_000020.11:63685555:C:T p.(Pro409Ser) NC_000020.11:63685555:C:T Identity +NM_001283009.2:c.2971C>A NP_001269938.1:p.Gln991Lys NC_000020.11:63693261:C:A p.(Gln991Lys) NC_000020.11:63693261:C:A p.(Gln991Lys) NC_000020.11:63693261:C:A Identity +NM_015138.5:c.1352A>G NP_055953.3:p.Glu451Gly NC_000015.10:41475589:A:G p.(Glu451Gly) NC_000015.10:41475589:A:G p.(Glu451Gly) NC_000015.10:41475589:A:G Identity +NM_052924.3:c.397C>T NP_443156.2:p.His133Tyr NC_000008.11:143378283:C:T p.(His133Tyr) NC_000008.11:143378283:C:T p.(His133Tyr) NC_000008.11:143378283:C:T Identity +NM_001330145.2:c.1127C>G NP_001317074.1:p.Ala376Gly NC_000012.12:106843912:C:G p.(Ala376Gly) NC_000012.12:106843912:C:G p.(Ala376Gly) NC_000012.12:106843912:C:G Identity +NM_001351226.2:c.763C>T NP_001338155.1:p.Arg255Trp NC_000012.12:130442588:G:A p.(Arg255Trp) NC_000012.12:130442588:G:A p.(Arg255Trp) NC_000012.12:130442588:G:A Identity +LRG_518t2:c.755A>T LRG_518p2:p.Glu252Val NC_000010.11:43105080:A:T ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:Data provider error: ValueError: Transcript LRG_518t2 not found ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:AlignmentMapper(tx_ac=LRG_518t2, alt_ac=LRG_518t2, alt_aln_method=transcript): No transcript info ERR:Data provider error: ValueError: Transcript LRG_518t2 not found +NM_017750.4:c.1759A>G NP_060220.3:p.Ile587Val NC_000002.12:85343315:T:C p.(Ile587Val) NC_000002.12:85343315:T:C p.(Ile587Val) NC_000002.12:85343315:T:C Identity +NM_001037872.3:c.647C>T NP_001032961.1:p.Pro216Leu NC_000002.12:99439166:G:A p.(Pro216Leu) NC_000002.12:99439166:G:A p.(Pro216Leu) NC_000002.12:99439166:G:A Identity +NM_020695.4:c.1033G>A NP_065746.3:p.Asp345Asn NC_000019.10:1827755:C:T p.(Asp345Asn) NC_000019.10:1827755:C:T p.(Asp345Asn) NC_000019.10:1827755:C:T Identity +NM_014989.7:c.1489C>T NP_055804.2:p.Arg497Trp NC_000006.12:72182959:C:T p.(Arg497Trp) NC_000006.12:72182959:C:T p.(Arg497Trp) NC_000006.12:72182959:C:T Identity +NM_001242581.2:c.1673C>G NP_001229510.1:p.Thr558Ser NC_000020.11:19975550:C:G p.(Thr558Ser) NC_000020.11:19975550:C:G p.(Thr558Ser) NC_000020.11:19975550:C:G Identity +NM_001319987.2:c.1717A>G NP_001306916.1:p.Met573Val NC_000014.9:92652990:A:G p.(Met573Val) NC_000014.9:92652990:A:G p.(Met573Val) NC_000014.9:92652990:A:G Identity +NM_001346599.2:c.1940A>G NP_001333528.1:p.Asn647Ser NC_000007.14:105565635:A:G p.(Asn647Ser) NC_000007.14:105565635:A:G p.(Asn647Ser) NC_000007.14:105565635:A:G Identity +NM_001415871.1:c.253C>T NP_001402800.1:p.Arg85Cys NC_000002.12:108731321:C:T p.(Arg85Cys) NC_000002.12:108731321:C:T p.(Arg85Cys) NC_000002.12:108731321:C:T Identity +NM_001392009.1:c.407C>T NP_001378938.1:p.Pro136Leu NC_000014.9:22603755:C:T p.(Pro136Leu) NC_000014.9:22603755:C:T p.(Pro136Leu) NC_000014.9:22603755:C:T Identity +NM_001080464.3:c.1069C>T NP_001073933.2:p.Arg357Trp NC_000014.9:104105345:C:T p.(Arg357Trp) NC_000014.9:104105345:C:T p.(Arg357Trp) NC_000014.9:104105345:C:T Identity +NM_001145664.2:c.593G>A NP_001139136.2:p.Arg198His NC_000002.12:101413039:C:T p.(Arg198His) NC_000002.12:101413039:C:T p.(Arg198His) NC_000002.12:101413039:C:T Identity +NM_014624.4:c.86T>C NP_055439.1:p.Leu29Pro NC_000001.11:153535253:A:G p.(Leu29Pro) NC_000001.11:153535253:A:G p.(Leu29Pro) NC_000001.11:153535253:A:G Identity +NM_001166215.2:c.462G>A NP_001159687.1:p.Met154Ile NC_000019.10:10514549:C:T p.(Met154Ile) NC_000019.10:10514549:C:T p.(Met154Ile) NC_000019.10:10514549:C:T Identity +NM_138421.3:c.938C>G NP_612430.2:p.Pro313Arg NC_000011.10:18086969:G:C p.(Pro313Arg) NC_000011.10:18086969:G:C p.(Pro313Arg) NC_000011.10:18086969:G:C Identity +NM_001278055.2:c.5404C>T NP_001264984.1:p.Pro1802Ser NC_000013.11:23338030:G:A p.(Pro1802Ser) NC_000013.11:23338030:G:A p.(Pro1802Ser) NC_000013.11:23338030:G:A Identity +NM_001145713.2:c.727C>G NP_001139185.1:p.Leu243Val NC_000019.10:47169916:C:G p.(Leu243Val) NC_000019.10:47169916:C:G p.(Leu243Val) NC_000019.10:47169916:C:G Identity +NM_018136.5:c.4981A>C NP_060606.3:p.Lys1661Gln NC_000001.11:197104269:T:G p.(Lys1661Gln) NC_000001.11:197104269:T:G p.(Lys1661Gln) NC_000001.11:197104269:T:G Identity +NM_001164386.2:c.1372G>C NP_001157858.1:p.Gly458Arg NC_000005.10:131498489:C:G p.(Gly458Arg) NC_000005.10:131498489:C:G p.(Gly458Arg) NC_000005.10:131498489:C:G Identity +NM_001303496.3:c.3514A>G NP_001290425.1:p.Ser1172Gly NC_000007.14:93132457:T:C p.(Ser1172Gly) NC_000007.14:93132457:T:C p.(Ser1172Gly) NC_000007.14:93132457:T:C Identity +NM_178448.4:c.408G>C NP_848543.2:p.Glu136Asp NC_000009.12:137070052:C:G p.(Glu136Asp) NC_000009.12:137070052:C:G p.(Glu136Asp) NC_000009.12:137070052:C:G Identity +NM_001145901.2:c.910G>C NP_001139373.1:p.Val304Leu NC_000019.10:38918433:C:G p.(Val304Leu) NC_000019.10:38918433:C:G p.(Val304Leu) NC_000019.10:38918433:C:G Identity +NM_001080496.3:c.674C>T NP_001073965.2:p.Thr225Met NC_000009.12:35751665:C:T p.(Thr225Met) NC_000009.12:35751665:C:T p.(Thr225Met) NC_000009.12:35751665:C:T Identity +NM_001144013.2:c.4122G>C NP_001137485.1:p.Trp1374Cys NC_000002.12:106423844:C:G p.(Trp1374Cys) NC_000002.12:106423844:C:G p.(Trp1374Cys) NC_000002.12:106423844:C:G Identity +NM_001144013.2:c.4794A>T NP_001137485.1:p.Glu1598Asp NC_000002.12:106423172:T:A p.(Glu1598Asp) NC_000002.12:106423172:T:A p.(Glu1598Asp) NC_000002.12:106423172:T:A Identity +NM_182588.3:c.1604C>A NP_872394.2:p.Ala535Glu NC_000002.12:107859523:C:A p.(Ala535Glu) NC_000002.12:107859523:C:A p.(Ala535Glu) NC_000002.12:107859523:C:A Identity +NM_002922.4:c.500C>A NP_002913.3:p.Thr167Asn NC_000001.11:192579191:C:A p.(Thr167Asn) NC_000001.11:192579191:C:A p.(Thr167Asn) NC_000001.11:192579191:C:A Identity +NM_001394154.1:c.1309C>T NP_001381083.1:p.Arg437Trp NC_000004.12:3317478:C:T p.(Arg437Trp) NC_000004.12:3317478:C:T p.(Arg437Trp) NC_000004.12:3317478:C:T Identity +NM_018990.4:c.578C>T NP_061863.1:p.Ser193Leu NC_000023.11:129792462:C:T p.(Ser193Leu) NC_000023.11:129792462:C:T p.(Ser193Leu) NC_000023.11:129792462:C:T Identity +NM_001024401.3:c.1133C>T NP_001019572.1:p.Pro378Leu NC_000016.10:28320778:C:T p.(Pro378Leu) NC_000016.10:28320778:C:T p.(Pro378Leu) NC_000016.10:28320778:C:T Identity +NM_001348194.2:c.223A>T NP_001335123.1:p.Ile75Leu NC_000006.12:7401011:A:T p.(Ile75Leu) NC_000006.12:7401011:A:T p.(Ile75Leu) NC_000006.12:7401011:A:T Identity +NM_001286445.3:c.784C>T NP_001273374.1:p.Arg262Trp NC_000006.12:24850697:G:A p.(Arg262Trp) NC_000006.12:24850697:G:A p.(Arg262Trp) NC_000006.12:24850697:G:A Identity +NM_006911.4:c.71C>A NP_008842.1:p.Ala24Glu NC_000009.12:5339675:G:T p.(Ala24Glu) NC_000009.12:5339675:G:T p.(Ala24Glu) NC_000009.12:5339675:G:T Identity +NM_144713.5:c.649T>C NP_653314.3:p.Ser217Pro NC_000002.12:37951863:T:C p.(Ser217Pro) NC_000002.12:37951863:T:C p.(Ser217Pro) NC_000002.12:37951863:T:C Identity +NM_001166034.2:c.527A>C NP_001159506.1:p.His176Pro NC_000019.10:35527754:T:G p.(His176Pro) NC_000019.10:35527754:T:G p.(His176Pro) NC_000019.10:35527754:T:G Identity +NM_001145444.1:c.3308T>C NP_001138916.1:p.Val1103Ala NC_000021.9:31671489:A:G p.(Val1103Ala) NC_000021.9:31671489:A:G p.(Val1103Ala) NC_000021.9:31671489:A:G Identity +NM_001286188.1:c.3551T>G NP_001273117.1:p.Val1184Gly NC_000006.12:154832895:T:G p.(Val1184Gly) NC_000006.12:154832895:T:G p.(Val1184Gly) NC_000006.12:154832895:T:G Identity +NM_001329616.2:c.856G>C NP_001316545.1:p.Asp286His NC_000006.12:28575395:C:G p.(Asp286His) NC_000006.12:28575395:C:G p.(Asp286His) NC_000006.12:28575395:C:G Identity +NM_004314.3:c.680C>G NP_004305.2:p.Ala227Gly NC_000011.10:3660198:C:G p.(Ala227Gly) NC_000011.10:3660198:C:G p.(Ala227Gly) NC_000011.10:3660198:C:G Identity +NM_001137669.2:c.52G>A NP_001131141.1:p.Asp18Asn NC_000001.11:182453995:G:A p.(Asp18Asn) NC_000001.11:182453995:G:A p.(Asp18Asn) NC_000001.11:182453995:G:A Identity +NM_001242359.2:c.1597A>G NP_001229288.1:p.Lys533Glu NC_000010.11:60878036:T:C p.(Lys533Glu) NC_000010.11:60878036:T:C p.(Lys533Glu) NC_000010.11:60878036:T:C Identity +NM_001142459.2:c.1304C>T NP_001135931.2:p.Ser435Phe NC_000007.14:151176211:G:A p.(Ser435Phe) NC_000007.14:151176211:G:A p.(Ser435Phe) NC_000007.14:151176211:G:A Identity +NM_001270528.2:c.1094G>A NP_001257457.1:p.Arg365His NC_000015.10:59055767:G:A p.(Arg365His) NC_000015.10:59055767:G:A p.(Arg365His) NC_000015.10:59055767:G:A Identity +NM_022064.5:c.2039G>A NP_071347.2:p.Arg680Gln NC_000003.12:49705062:G:A p.(Arg680Gln) NC_000003.12:49705062:G:A p.(Arg680Gln) NC_000003.12:49705062:G:A Identity +NM_001099685.3:c.322G>A NP_001093155.1:p.Asp108Asn NC_000023.11:120077045:C:T p.(Asp108Asn) NC_000023.11:120077045:C:T p.(Asp108Asn) NC_000023.11:120077045:C:T Identity +NM_001286134.2:c.1306T>C NP_001273063.1:p.Ser436Pro NC_000011.10:212931:T:C p.(Ser436Pro) NC_000011.10:212931:T:C p.(Ser436Pro) NC_000011.10:212931:T:C Identity +NM_001177663.2:c.5740G>A NP_001171134.1:p.Ala1914Thr NC_000002.12:151465259:G:A p.(Ala1914Thr) NC_000002.12:151465259:G:A p.(Ala1914Thr) NC_000002.12:151465259:G:A Identity +NM_001385907.1:c.1505T>C NP_001372836.1:p.Phe502Ser NC_000009.12:32481466:A:G p.(Phe502Ser) NC_000009.12:32481466:A:G p.(Phe502Ser) NC_000009.12:32481466:A:G Identity +NM_001184993.2:c.2953A>C NP_001171922.1:p.Ile985Leu NC_000013.11:24844772:A:C p.(Ile985Leu) NC_000013.11:24844772:A:C p.(Ile985Leu) NC_000013.11:24844772:A:C Identity +NM_001165032.2:c.74A>G NP_001158504.1:p.Asn25Ser NC_000006.12:13977192:A:G p.(Asn25Ser) NC_000006.12:13977192:A:G p.(Asn25Ser) NC_000006.12:13977192:A:G Identity +NM_019592.7:c.1552G>T NP_062538.5:p.Ala518Ser NC_000009.12:101552403:G:T p.(Ala518Ser) NC_000009.12:101552403:G:T p.(Ala518Ser) NC_000009.12:101552403:G:T Identity +NM_207396.3:c.380G>A NP_997279.2:p.Cys127Tyr NC_000001.11:6208935:G:A p.(Cys127Tyr) NC_000001.11:6208935:G:A p.(Cys127Tyr) NC_000001.11:6208935:G:A Identity +NM_001293306.2:c.737T>G NP_001280235.2:p.Leu246Arg NC_000003.12:38761337:A:C p.(Leu246Arg) NC_000003.12:38761337:A:C p.(Leu246Arg) NC_000003.12:38761337:A:C Identity +NM_001130413.4:c.1028C>T NP_001123885.2:p.Pro343Leu NC_000001.11:1286883:C:T p.(Pro343Leu) NC_000001.11:1286883:C:T p.(Pro343Leu) NC_000001.11:1286883:C:T Identity +NM_021930.6:c.140C>A NP_068749.3:p.Thr47Lys NC_000007.14:105536615:C:A p.(Thr47Lys) NC_000007.14:105536615:C:A p.(Thr47Lys) NC_000007.14:105536615:C:A Identity +NM_021920.4:c.11G>A NP_068739.1:p.Arg4Gln NC_000011.10:627132:C:T p.(Arg4Gln) NC_000011.10:627132:C:T p.(Arg4Gln) NC_000011.10:627132:C:T Identity +NM_001170690.3:c.2329A>C NP_001164161.1:p.Lys777Gln NC_000011.10:9021139:T:G p.(Lys777Gln) NC_000011.10:9021139:T:G p.(Lys777Gln) NC_000011.10:9021139:T:G Identity +NM_001048218.2:c.1696G>C NP_001041683.1:p.Ala566Pro NC_000011.10:65536629:G:C p.(Ala566Pro) NC_000011.10:65536629:G:C p.(Ala566Pro) NC_000011.10:65536629:G:C Identity +NM_023940.3:c.386T>C NP_076429.1:p.Ile129Thr NC_000004.12:52865443:T:C p.(Ile129Thr) NC_000004.12:52865443:T:C p.(Ile129Thr) NC_000004.12:52865443:T:C Identity +NM_014737.3:c.13C>T NP_055552.1:p.His5Tyr NC_000020.11:4801017:G:A p.(His5Tyr) NC_000020.11:4801017:G:A p.(His5Tyr) NC_000020.11:4801017:G:A Identity +NM_001286609.2:c.856G>A NP_001273538.1:p.Val286Met NC_000006.12:108928087:G:A p.(Val286Met) NC_000006.12:108928087:G:A p.(Val286Met) NC_000006.12:108928087:G:A Identity +NM_001205252.2:c.701C>T NP_001192181.1:p.Pro234Leu NC_000001.11:1071865:G:A p.(Pro234Leu) NC_000001.11:1071865:G:A p.(Pro234Leu) NC_000001.11:1071865:G:A Identity +NM_001290258.2:c.1717A>G NP_001277187.1:p.Ile573Val NC_000007.14:123636930:A:G p.(Ile573Val) NC_000007.14:123636930:A:G p.(Ile573Val) NC_000007.14:123636930:A:G Identity +NM_001286426.2:c.35A>C NP_001273355.1:p.Asn12Thr NC_000006.12:88963374:T:G p.(Asn12Thr) NC_000006.12:88963374:T:G p.(Asn12Thr) NC_000006.12:88963374:T:G Identity +NM_001145845.2:c.3859C>T NP_001139317.1:p.Arg1287Cys NC_000003.12:78617757:G:A p.(Arg1287Cys) NC_000003.12:78617757:G:A p.(Arg1287Cys) NC_000003.12:78617757:G:A Identity +NM_212556.4:c.674T>A NP_997721.2:p.Val225Glu NC_000002.12:236214788:A:T p.(Val225Glu) NC_000002.12:236214788:A:T p.(Val225Glu) NC_000002.12:236214788:A:T Identity +NM_032131.6:c.430C>T NP_115507.4:p.Leu144Phe NC_000006.12:108868961:C:T p.(Leu144Phe) NC_000006.12:108868961:C:T p.(Leu144Phe) NC_000006.12:108868961:C:T Identity +NM_001204456.2:c.1446G>C NP_001191385.1:p.Glu482Asp NC_000007.14:5064901:G:C p.(Glu482Asp) NC_000007.14:5064901:G:C p.(Glu482Asp) NC_000007.14:5064901:G:C Identity +NM_002943.4:c.971C>T NP_002934.1:p.Thr324Met NC_000015.10:60505553:G:A p.(Thr324Met) NC_000015.10:60505553:G:A p.(Thr324Met) NC_000015.10:60505553:G:A Identity +NM_178857.6:c.3034C>A NP_849188.4:p.Gln1012Lys NC_000008.11:10611063:G:T p.(Gln1012Lys) NC_000008.11:10611063:G:T p.(Gln1012Lys) NC_000008.11:10611063:G:T Identity +NM_001031739.3:c.461T>C NP_001026909.1:p.Ile154Thr NC_000023.11:15250536:A:G p.(Ile154Thr) NC_000023.11:15250536:A:G p.(Ile154Thr) NC_000023.11:15250536:A:G Identity +NM_001303411.2:c.548C>A NP_001290340.1:p.Ala183Glu NC_000018.10:36027032:G:T p.(Ala183Glu) NC_000018.10:36027032:G:T p.(Ala183Glu) NC_000018.10:36027032:G:T Identity +NM_001330501.2:c.1676G>A NP_001317430.1:p.Arg559Lys NC_000017.11:76155583:C:T p.(Arg559Lys) NC_000017.11:76155583:C:T p.(Arg559Lys) NC_000017.11:76155583:C:T Identity +NM_001330501.2:c.233A>G NP_001317430.1:p.Gln78Arg NC_000017.11:76173764:T:C p.(Gln78Arg) NC_000017.11:76173764:T:C p.(Gln78Arg) NC_000017.11:76173764:T:C Identity +NM_001323281.2:c.1805A>C NP_001310210.1:p.Lys602Thr NC_000020.11:36998879:T:G p.(Lys602Thr) NC_000020.11:36998879:T:G p.(Lys602Thr) NC_000020.11:36998879:T:G Identity +NM_013286.5:c.1441C>T NP_037418.3:p.Pro481Ser NC_000003.12:51392839:C:T p.(Pro481Ser) NC_000003.12:51392839:C:T p.(Pro481Ser) NC_000003.12:51392839:C:T Identity +NM_001282231.2:c.28G>C NP_001269160.1:p.Val10Leu NC_000023.11:101657560:C:G p.(Val10Leu) NC_000023.11:101657560:C:G p.(Val10Leu) NC_000023.11:101657560:C:G Identity +NM_001006944.2:c.1868G>A NP_001006945.1:p.Arg623His NC_000011.10:64370312:G:A p.(Arg623His) NC_000011.10:64370312:G:A p.(Arg623His) NC_000011.10:64370312:G:A Identity +NM_001163034.2:c.1106G>A NP_001156506.1:p.Arg369His NC_000017.11:80823192:G:A p.(Arg369His) NC_000017.11:80823192:G:A p.(Arg369His) NC_000017.11:80823192:G:A Identity +NM_001354011.2:c.379C>T NP_001340940.1:p.His127Tyr NC_000023.11:55731478:C:T p.(His127Tyr) NC_000023.11:55731478:C:T p.(His127Tyr) NC_000023.11:55731478:C:T Identity +NM_019592.7:c.2684C>A NP_062538.5:p.Thr895Asn NC_000009.12:101561943:C:A p.(Thr895Asn) NC_000009.12:101561943:C:A p.(Thr895Asn) NC_000009.12:101561943:C:A Identity +NM_001142733.3:c.1565C>T NP_001136205.2:p.Ser522Leu NC_000003.12:57277786:G:A p.(Ser522Leu) NC_000003.12:57277786:G:A p.(Ser522Leu) NC_000003.12:57277786:G:A Identity +NM_032015.5:c.997C>T NP_114404.1:p.Arg333Cys NC_000011.10:119336118:C:T p.(Arg333Cys) NC_000011.10:119336118:C:T p.(Arg333Cys) NC_000011.10:119336118:C:T Identity +NM_006828.4:c.3437T>G NP_006819.2:p.Leu1146Arg NC_000006.12:100647266:A:C p.(Leu1146Arg) NC_000006.12:100647266:A:C p.(Leu1146Arg) NC_000006.12:100647266:A:C Identity +NM_001003698.4:c.3259G>A NP_001003698.1:p.Ala1087Thr NC_000006.12:7231357:G:A p.(Ala1087Thr) NC_000006.12:7231357:G:A p.(Ala1087Thr) NC_000006.12:7231357:G:A Identity +NM_001109903.2:c.473C>G NP_001103373.1:p.Ala158Gly NC_000012.12:116750229:C:G p.(Ala158Gly) NC_000012.12:116750229:C:G p.(Ala158Gly) NC_000012.12:116750229:C:G Identity +NM_001099697.2:c.778C>A NP_001093167.1:p.Gln260Lys NC_000007.14:6766874:C:A p.(Gln260Lys) NC_000007.14:6766874:C:A p.(Gln260Lys) NC_000007.14:6766874:C:A Identity +NM_001181.4:c.866A>G NP_001172.1:p.Asp289Gly NC_000017.11:7101644:T:C p.(Asp289Gly) NC_000017.11:7101644:T:C p.(Asp289Gly) NC_000017.11:7101644:T:C Identity +NM_001012337.3:c.503T>C NP_001012337.1:p.Ile168Thr NC_000003.12:125982375:T:C p.(Ile168Thr) NC_000003.12:125982375:T:C p.(Ile168Thr) NC_000003.12:125982375:T:C Identity +NM_004560.4:c.2509T>G NP_004551.2:p.Phe837Val NC_000009.12:91723984:A:C p.(Phe837Val) NC_000009.12:91723984:A:C p.(Phe837Val) NC_000009.12:91723984:A:C Identity +NM_001283009.2:c.2039A>G NP_001269938.1:p.Gln680Arg NC_000020.11:63689762:A:G p.(Gln680Arg) NC_000020.11:63689762:A:G p.(Gln680Arg) NC_000020.11:63689762:A:G Identity +NM_001004308.3:c.902C>T NP_001004308.2:p.Pro301Leu NC_000023.11:112455629:C:T p.(Pro301Leu) NC_000023.11:112455629:C:T p.(Pro301Leu) NC_000023.11:112455629:C:T Identity +NM_001078173.2:c.83C>T NP_001071641.1:p.Pro28Leu NC_000023.11:135022376:G:A p.(Pro28Leu) NC_000023.11:135022376:G:A p.(Pro28Leu) NC_000023.11:135022376:G:A Identity +NM_001034996.3:c.248A>G NP_001030168.1:p.Asn83Ser NC_000003.12:40461453:A:G p.(Asn83Ser) NC_000003.12:40461453:A:G p.(Asn83Ser) NC_000003.12:40461453:A:G Identity +NM_001321859.2:c.337C>A NP_001308788.1:p.Pro113Thr NC_000002.12:55027143:G:T p.(Pro113Thr) NC_000002.12:55027143:G:T p.(Pro113Thr) NC_000002.12:55027143:G:T Identity +NM_001095.4:c.304C>G NP_001086.2:p.Gln102Glu NC_000012.12:50059069:C:G p.(Gln102Glu) NC_000012.12:50059069:C:G p.(Gln102Glu) NC_000012.12:50059069:C:G Identity +NM_001286407.2:c.1283A>G NP_001273336.1:p.Asp428Gly NC_000015.10:40574088:A:G p.(Asp428Gly) NC_000015.10:40574088:A:G p.(Asp428Gly) NC_000015.10:40574088:A:G Identity +NM_004316.4:c.620C>G NP_004307.2:p.Ser207Trp NC_000012.12:102958863:C:G p.(Ser207Trp) NC_000012.12:102958863:C:G p.(Ser207Trp) NC_000012.12:102958863:C:G Identity +NM_015169.4:c.80A>C NP_055984.1:p.His27Pro NC_000008.11:66429210:A:C p.(His27Pro) NC_000008.11:66429210:A:C p.(His27Pro) NC_000008.11:66429210:A:C Identity +NM_198467.3:c.427C>T NP_940869.2:p.Leu143Phe NC_000007.14:77696895:C:T p.(Leu143Phe) NC_000007.14:77696895:C:T p.(Leu143Phe) NC_000007.14:77696895:C:T Identity +NM_173565.5:c.1646C>G NP_775836.4:p.Ser549Cys NC_000007.14:5943435:G:C p.(Ser549Cys) NC_000007.14:5943435:G:C p.(Ser549Cys) NC_000007.14:5943435:G:C Identity +NM_001099697.2:c.706C>T NP_001093167.1:p.Arg236Cys NC_000007.14:6766802:C:T p.(Arg236Cys) NC_000007.14:6766802:C:T p.(Arg236Cys) NC_000007.14:6766802:C:T Identity +NM_014306.5:c.724G>T NP_055121.1:p.Ala242Ser NC_000022.11:32398030:C:A p.(Ala242Ser) NC_000022.11:32398030:C:A p.(Ala242Ser) NC_000022.11:32398030:C:A Identity +NM_005157.6:c.1595C>T NP_005148.2:p.Thr532Met NC_000009.12:130880580:C:T p.(Thr532Met) NC_000009.12:130880580:C:T p.(Thr532Met) NC_000009.12:130880580:C:T Identity +NM_001283009.2:c.2721G>C NP_001269938.1:p.Leu907Phe NC_000020.11:63692872:G:C p.(Leu907Phe) NC_000020.11:63692872:G:C p.(Leu907Phe) NC_000020.11:63692872:G:C Identity +NM_145307.4:c.1124T>C NP_660350.2:p.Val375Ala NC_000010.11:62204918:A:G p.(Val375Ala) NC_000010.11:62204918:A:G p.(Val375Ala) NC_000010.11:62204918:A:G Identity +NM_001134888.3:c.386C>T NP_001128360.1:p.Ser129Leu NC_000014.9:100884402:G:A p.(Ser129Leu) NC_000014.9:100884402:G:A p.(Ser129Leu) NC_000014.9:100884402:G:A Identity +NM_001004308.3:c.812G>A NP_001004308.2:p.Arg271Gln NC_000023.11:112455539:G:A p.(Arg271Gln) NC_000023.11:112455539:G:A p.(Arg271Gln) NC_000023.11:112455539:G:A Identity +NM_005772.5:c.274C>G NP_005763.3:p.Leu92Val NC_000009.12:4826922:C:G p.(Leu92Val) NC_000009.12:4826922:C:G p.(Leu92Val) NC_000009.12:4826922:C:G Identity +NM_001385449.1:c.373A>G NP_001372378.1:p.Thr125Ala NC_000023.11:110450989:A:G p.(Thr125Ala) NC_000023.11:110450989:A:G p.(Thr125Ala) NC_000023.11:110450989:A:G Identity +NM_020532.5:c.236T>C NP_065393.1:p.Met79Thr NC_000002.12:55050064:A:G p.(Met79Thr) NC_000002.12:55050064:A:G p.(Met79Thr) NC_000002.12:55050064:A:G Identity +NM_001004312.2:c.578G>A NP_001004312.2:p.Gly193Asp NC_000003.12:187698597:C:T p.(Gly193Asp) NC_000003.12:187698597:C:T p.(Gly193Asp) NC_000003.12:187698597:C:T Identity +NM_001004312.2:c.604T>C NP_001004312.2:p.Cys202Arg NC_000003.12:187698571:A:G p.(Cys202Arg) NC_000003.12:187698571:A:G p.(Cys202Arg) NC_000003.12:187698571:A:G Identity +NM_001036.6:c.3190G>C NP_001027.3:p.Glu1064Gln NC_000015.10:33635627:G:C p.(Glu1064Gln) NC_000015.10:33635627:G:C p.(Glu1064Gln) NC_000015.10:33635627:G:C Identity +NM_001319071.2:c.75T>G NP_001306000.1:p.Asp25Glu NC_000003.12:45703479:T:G p.(Asp25Glu) NC_000003.12:45703479:T:G p.? NC_000003.12:45703479:T:G Identity +NM_171999.4:c.2737G>A NP_741996.2:p.Glu913Lys NC_000018.10:78994727:G:A p.(Glu913Lys) NC_000018.10:78994727:G:A p.(Glu913Lys) NC_000018.10:78994727:G:A Identity +NM_001257359.2:c.509G>A NP_001244288.1:p.Arg170His NC_000017.11:50116080:C:T p.(Arg170His) NC_000017.11:50116080:C:T p.(Arg170His) NC_000017.11:50116080:C:T Identity +NM_001003407.2:c.214C>G NP_001003407.1:p.Leu72Val NC_000010.11:114575584:G:C p.(Leu72Val) NC_000010.11:114575584:G:C p.(Leu72Val) NC_000010.11:114575584:G:C Identity +NM_178448.4:c.437C>A NP_848543.2:p.Ala146Asp NC_000009.12:137070023:G:T p.(Ala146Asp) NC_000009.12:137070023:G:T p.(Ala146Asp) NC_000009.12:137070023:G:T Identity +NM_001251888.2:c.283G>A NP_001238817.1:p.Ala95Thr NC_000017.11:81985515:G:A p.(Ala95Thr) NC_000017.11:81985515:G:A p.(Ala95Thr) NC_000017.11:81985515:G:A Identity +NM_001304829.2:c.4C>A NP_001291758.1:p.Gln2Lys NC_000001.11:100120437:G:T p.(Gln2Lys) NC_000001.11:100120437:G:T p.(Gln2Lys) NC_000001.11:100120437:G:T Identity +NM_001012980.2:c.1031C>T NP_001012998.2:p.Ala344Val NC_000023.11:85107937:G:A p.(Ala344Val) NC_000023.11:85107937:G:A p.(Ala344Val) NC_000023.11:85107937:G:A Identity +NM_001008226.2:c.155G>A NP_001008227.1:p.Arg52Gln NC_000015.10:82271703:G:A p.(Arg52Gln) NC_000015.10:82271703:G:A p.(Arg52Gln) NC_000015.10:82271703:G:A Identity +NM_001370096.2:c.743C>G NP_001357025.1:p.Ala248Gly NC_000019.10:55530036:G:C p.(Ala248Gly) NC_000019.10:55530036:G:C p.(Ala248Gly) NC_000019.10:55530036:G:C Identity +NM_004719.3:c.4064T>C NP_004710.2:p.Leu1355Ser NC_000012.12:45922996:A:G p.(Leu1355Ser) NC_000012.12:45922996:A:G p.(Leu1355Ser) NC_000012.12:45922996:A:G Identity +NM_001145444.1:c.557T>G NP_001138916.1:p.Leu186Arg NC_000021.9:31701169:A:C p.(Leu186Arg) NC_000021.9:31701169:A:C p.(Leu186Arg) NC_000021.9:31701169:A:C Identity +NM_153334.7:c.1436G>C NP_699165.3:p.Arg479Pro NC_000022.11:20429343:C:G p.(Arg479Pro) NC_000022.11:20429343:C:G p.(Arg479Pro) NC_000022.11:20429343:C:G Identity +NM_153334.7:c.1564C>G NP_699165.3:p.His522Asp NC_000022.11:20427541:G:C p.(His522Asp) NC_000022.11:20427541:G:C p.(His522Asp) NC_000022.11:20427541:G:C Identity +NM_052863.3:c.259G>A NP_443095.2:p.Val87Met NC_000005.10:180590631:C:T p.(Val87Met) NC_000005.10:180590631:C:T p.(Val87Met) NC_000005.10:180590631:C:T Identity +NM_001036.6:c.5250T>G NP_001027.3:p.Ile1750Met NC_000015.10:33662779:T:G p.(Ile1750Met) NC_000015.10:33662779:T:G p.(Ile1750Met) NC_000015.10:33662779:T:G Identity +NM_001130413.4:c.1900C>T NP_001123885.2:p.Pro634Ser NC_000001.11:1290676:C:T p.(Pro634Ser) NC_000001.11:1290676:C:T p.(Pro634Ser) NC_000001.11:1290676:C:T Identity +NM_001036.6:c.3182C>T NP_001027.3:p.Ser1061Leu NC_000015.10:33635619:C:T p.(Ser1061Leu) NC_000015.10:33635619:C:T p.(Ser1061Leu) NC_000015.10:33635619:C:T Identity +NM_001164750.2:c.835G>A NP_001158222.1:p.Glu279Lys NC_000008.11:61633694:C:T p.(Glu279Lys) NC_000008.11:61633694:C:T p.(Glu279Lys) NC_000008.11:61633694:C:T Identity +NM_015356.5:c.2026G>A NP_056171.3:p.Glu676Lys NC_000008.11:143808697:C:T p.(Glu676Lys) NC_000008.11:143808697:C:T p.(Glu676Lys) NC_000008.11:143808697:C:T Identity +NM_015356.5:c.2266G>A NP_056171.3:p.Glu756Lys NC_000008.11:143806925:C:T p.(Glu756Lys) NC_000008.11:143806925:C:T p.(Glu756Lys) NC_000008.11:143806925:C:T Identity +NM_001257359.2:c.1192G>A NP_001244288.1:p.Glu398Lys NC_000017.11:50112954:C:T p.(Glu398Lys) NC_000017.11:50112954:C:T p.(Glu398Lys) NC_000017.11:50112954:C:T Identity +NM_001270439.2:c.241A>G NP_001257368.1:p.Ile81Val NC_000001.11:183630621:T:C p.(Ile81Val) NC_000001.11:183630621:T:C p.(Ile81Val) NC_000001.11:183630621:T:C Identity +NM_001413018.1:c.1007C>A NP_001399947.1:p.Thr336Lys NC_000008.11:144516111:G:T p.(Thr336Lys) NC_000008.11:144516111:G:T p.(Thr336Lys) NC_000008.11:144516111:G:T Identity +NM_015380.5:c.1050G>A NP_056195.3:p.Met350Ile NC_000022.11:43983974:G:A p.(Met350Ile) NC_000022.11:43983974:G:A p.(Met350Ile) NC_000022.11:43983974:G:A Identity +NM_001301839.2:c.568A>G NP_001288768.1:p.Ile190Val NC_000017.11:75704769:A:G p.(Ile190Val) NC_000017.11:75704769:A:G p.(Ile190Val) NC_000017.11:75704769:A:G Identity +NM_001134707.2:c.1652C>A NP_001128179.1:p.Pro551Gln NC_000009.12:133702931:G:T p.(Pro551Gln) NC_000009.12:133702931:G:T p.(Pro551Gln) NC_000009.12:133702931:G:T Identity +NM_001410983.1:c.2641G>A NP_001397912.1:p.Gly881Ser NC_000012.12:108524442:C:T p.(Gly881Ser) NC_000012.12:108524442:C:T p.(Gly881Ser) NC_000012.12:108524442:C:T Identity +NM_001410983.1:c.1802C>T NP_001397912.1:p.Ala601Val NC_000012.12:108530308:G:A p.(Ala601Val) NC_000012.12:108530308:G:A p.(Ala601Val) NC_000012.12:108530308:G:A Identity +NM_001346505.2:c.1205G>A NP_001333434.1:p.Arg402His NC_000006.12:148527507:G:A p.(Arg402His) NC_000006.12:148527507:G:A p.(Arg402His) NC_000006.12:148527507:G:A Identity +NM_001370096.2:c.224G>A NP_001357025.1:p.Arg75His NC_000019.10:55536070:C:T p.(Arg75His) NC_000019.10:55536070:C:T p.(Arg75His) NC_000019.10:55536070:C:T Identity +NM_001100122.2:c.2230G>A NP_001093592.1:p.Ala744Thr NC_000019.10:1112515:C:T p.(Ala744Thr) NC_000019.10:1112515:C:T p.(Ala744Thr) NC_000019.10:1112515:C:T Identity +NM_016240.3:c.519T>G NP_057324.2:p.Ser173Arg NC_000008.11:27658688:T:G p.(Ser173Arg) NC_000008.11:27658688:T:G p.(Ser173Arg) NC_000008.11:27658688:T:G Identity +NM_001413201.1:c.188G>A NP_001400130.1:p.Arg63Gln NC_000008.11:27922169:C:T p.(Arg63Gln) NC_000008.11:27922169:C:T p.(Arg63Gln) NC_000008.11:27922169:C:T Identity +NM_001031694.3:c.845G>T NP_001026864.1:p.Gly282Val NC_000001.11:41075321:C:A p.(Gly282Val) NC_000001.11:41075321:C:A p.(Gly282Val) NC_000001.11:41075321:C:A Identity +NM_001293306.2:c.4178T>C NP_001280235.2:p.Met1393Thr NC_000003.12:38709577:A:G p.(Met1393Thr) NC_000003.12:38709577:A:G p.(Met1393Thr) NC_000003.12:38709577:A:G Identity +NM_001177984.3:c.734T>G NP_001171455.1:p.Ile245Ser NC_000012.12:51699596:T:G p.(Ile245Ser) NC_000012.12:51699596:T:G p.(Ile245Ser) NC_000012.12:51699596:T:G Identity +NM_015356.5:c.1178A>G NP_056171.3:p.Gln393Arg NC_000008.11:143811000:T:C p.(Gln393Arg) NC_000008.11:143811000:T:C p.(Gln393Arg) NC_000008.11:143811000:T:C Identity +NM_020423.7:c.329C>T NP_065156.5:p.Ala110Val NC_000001.11:169878655:G:A p.(Ala110Val) NC_000001.11:169878655:G:A p.(Ala110Val) NC_000001.11:169878655:G:A Identity +NM_001355216.2:c.790T>A NP_001342145.1:p.Ser264Thr NC_000010.11:43112127:T:A p.(Ser264Thr) NC_000010.11:43112127:T:A p.(Ser264Thr) NC_000010.11:43112127:T:A Identity +NM_001098535.1:c.413T>C NP_001092005.1:p.Leu138Pro NC_000022.11:32360290:T:C p.(Leu138Pro) NC_000022.11:32360290:T:C p.(Leu138Pro) NC_000022.11:32360290:T:C Identity +NM_001370534.1:c.2050T>A NP_001357463.1:p.Cys684Ser NC_000016.10:74626473:A:T p.(Cys684Ser) NC_000016.10:74626473:A:T p.(Cys684Ser) NC_000016.10:74626473:A:T Identity +NM_002918.5:c.2926C>A NP_002909.4:p.Leu976Met NC_000019.10:13962708:G:T p.(Leu976Met) NC_000019.10:13962708:G:T p.(Leu976Met) NC_000019.10:13962708:G:T Identity +NM_000635.4:c.160G>T NP_000626.2:p.Val54Phe NC_000019.10:6044212:C:A p.(Val54Phe) NC_000019.10:6044212:C:A p.(Val54Phe) NC_000019.10:6044212:C:A Identity +NM_001035223.4:c.1940C>A NP_001030300.3:p.Ala647Asp NC_000019.10:11397317:G:T p.(Ala647Asp) NC_000019.10:11397317:G:T p.(Ala647Asp) NC_000019.10:11397317:G:T Identity +NM_001144013.2:c.3968A>G NP_001137485.1:p.Asp1323Gly NC_000002.12:106423998:T:C p.(Asp1323Gly) NC_000002.12:106423998:T:C p.(Asp1323Gly) NC_000002.12:106423998:T:C Identity +NM_004314.3:c.80T>C NP_004305.2:p.Ile27Thr NC_000011.10:3659598:T:C p.(Ile27Thr) NC_000011.10:3659598:T:C p.(Ile27Thr) NC_000011.10:3659598:T:C Identity +NM_001276260.2:c.234T>G NP_001263189.1:p.Asp78Glu NC_000009.12:113583682:T:G p.(Asp78Glu) NC_000009.12:113583682:T:G p.(Asp78Glu) NC_000009.12:113583682:T:G Identity +NM_001040456.3:c.293G>A NP_001035546.1:p.Arg98His NC_000007.14:75881942:G:A p.(Arg98His) NC_000007.14:75881942:G:A p.(Arg98His) NC_000007.14:75881942:G:A Identity +NM_001329536.1:c.419G>A NP_001316465.1:p.Arg140His NC_000022.11:29263947:C:T p.(Arg140His) NC_000022.11:29263947:C:T p.(Arg140His) NC_000022.11:29263947:C:T Identity +NM_001285439.2:c.4876C>T NP_001272368.1:p.Pro1626Ser NC_000005.10:38944554:G:A p.(Pro1626Ser) NC_000005.10:38944554:G:A p.(Pro1626Ser) NC_000005.10:38944554:G:A Identity +NM_001168407.2:c.239C>G NP_001161879.1:p.Thr80Arg NC_000006.12:72235687:C:G p.(Thr80Arg) NC_000006.12:72235687:C:G p.(Thr80Arg) NC_000006.12:72235687:C:G Identity +NM_001100117.3:c.2518C>G NP_001093587.1:p.Arg840Gly NC_000008.11:103936692:C:G p.(Arg840Gly) NC_000008.11:103936692:C:G p.(Arg840Gly) NC_000008.11:103936692:C:G Identity +NM_001100117.3:c.1895T>C NP_001093587.1:p.Val632Ala NC_000008.11:103915576:T:C p.(Val632Ala) NC_000008.11:103915576:T:C p.(Val632Ala) NC_000008.11:103915576:T:C Identity +NM_001195833.2:c.913G>A NP_001182762.1:p.Asp305Asn NC_000019.10:38870680:C:T p.(Asp305Asn) NC_000019.10:38870680:C:T p.(Asp305Asn) NC_000019.10:38870680:C:T Identity +NM_001195833.2:c.188T>C NP_001182762.1:p.Leu63Pro NC_000019.10:38876352:A:G p.(Leu63Pro) NC_000019.10:38876352:A:G p.(Leu63Pro) NC_000019.10:38876352:A:G Identity +NM_001256820.2:c.433G>C NP_001243749.1:p.Glu145Gln NC_000001.11:155900506:C:G p.(Glu145Gln) NC_000001.11:155900506:C:G p.(Glu145Gln) NC_000001.11:155900506:C:G Identity +NM_001040445.3:c.53G>A NP_001035535.1:p.Arg18His NC_000002.12:238433556:G:A p.(Arg18His) NC_000002.12:238433556:G:A p.(Arg18His) NC_000002.12:238433556:G:A Identity +NM_002933.5:c.218C>T NP_002924.1:p.Thr73Ile NC_000014.9:20801850:G:A p.(Thr73Ile) NC_000014.9:20801850:G:A p.(Thr73Ile) NC_000014.9:20801850:G:A Identity +NM_001330474.2:c.2142C>G NP_001317403.1:p.Phe714Leu NC_000012.12:120571275:C:G p.(Phe714Leu) NC_000012.12:120571275:C:G p.(Phe714Leu) NC_000012.12:120571275:C:G Identity +NM_014455.4:c.8A>G NP_055270.1:p.Glu3Gly NC_000001.11:145823865:T:C p.(Glu3Gly) NC_000001.11:145823865:T:C p.(Glu3Gly) NC_000001.11:145823865:T:C Identity +NM_022064.5:c.2338G>T NP_071347.2:p.Ala780Ser NC_000003.12:49706014:G:T p.(Ala780Ser) NC_000003.12:49706014:G:T p.(Ala780Ser) NC_000003.12:49706014:G:T Identity +NM_173557.3:c.324G>T NP_775828.1:p.Lys108Asn NC_000018.10:61816139:C:A p.(Lys108Asn) NC_000018.10:61816139:C:A p.(Lys108Asn) NC_000018.10:61816139:C:A Identity +NM_173557.3:c.343G>A NP_775828.1:p.Gly115Arg NC_000018.10:61816120:C:T p.(Gly115Arg) NC_000018.10:61816120:C:T p.(Gly115Arg) NC_000018.10:61816120:C:T Identity +NM_017999.5:c.76G>A NP_060469.4:p.Gly26Arg NC_000014.9:24147773:G:A p.(Gly26Arg) NC_000014.9:24147773:G:A p.(Gly26Arg) NC_000014.9:24147773:G:A Identity +NM_001321643.2:c.2884G>A NP_001308572.1:p.Val962Ile NC_000002.12:11197662:C:T p.(Val962Ile) NC_000002.12:11197662:C:T p.(Val962Ile) NC_000002.12:11197662:C:T Identity +NM_004560.4:c.2477C>T NP_004551.2:p.Pro826Leu NC_000009.12:91724016:G:A p.(Pro826Leu) NC_000009.12:91724016:G:A p.(Pro826Leu) NC_000009.12:91724016:G:A Identity +NM_001202429.2:c.1682T>C NP_001189358.1:p.Leu561Pro NC_000014.9:93937786:A:G p.(Leu561Pro) NC_000014.9:93937786:A:G p.(Leu561Pro) NC_000014.9:93937786:A:G Identity +NM_001018.5:c.122A>C NP_001009.1:p.Gln41Pro NC_000019.10:1440050:A:C p.(Gln41Pro) NC_000019.10:1440050:A:C p.(Gln41Pro) NC_000019.10:1440050:A:C Identity +NM_001122965.1:c.706C>A NP_001116437.1:p.Gln236Lys NC_000001.11:152156392:G:T p.(Gln236Lys) NC_000001.11:152156392:G:T p.(Gln236Lys) NC_000001.11:152156392:G:T Identity +NM_018364.5:c.377C>T NP_060834.2:p.Pro126Leu NC_000001.11:113812035:G:A p.(Pro126Leu) NC_000001.11:113812035:G:A p.(Pro126Leu) NC_000001.11:113812035:G:A Identity +NM_001283009.2:c.3893A>C NP_001269938.1:p.Glu1298Ala NC_000020.11:63695847:A:C p.(Glu1298Ala) NC_000020.11:63695847:A:C p.(Glu1298Ala) NC_000020.11:63695847:A:C Identity +NM_001283009.2:c.263C>A NP_001269938.1:p.Ser88Tyr NC_000020.11:63661457:C:A p.(Ser88Tyr) NC_000020.11:63661457:C:A p.(Ser88Tyr) NC_000020.11:63661457:C:A Identity +NM_020532.5:c.260C>T NP_065393.1:p.Pro87Leu NC_000002.12:55050040:G:A p.(Pro87Leu) NC_000002.12:55050040:G:A p.(Pro87Leu) NC_000002.12:55050040:G:A Identity +NM_178570.3:c.340G>A NP_848665.1:p.Gly114Ser NC_000011.10:57467916:G:A p.(Gly114Ser) NC_000011.10:57467916:G:A p.(Gly114Ser) NC_000011.10:57467916:G:A Identity +NM_016940.3:c.28T>C NP_058636.1:p.Trp10Arg NC_000021.9:29019249:A:G p.(Trp10Arg) NC_000021.9:29019249:A:G p.(Trp10Arg) NC_000021.9:29019249:A:G Identity +NM_001270401.2:c.626G>C NP_001257330.1:p.Gly209Ala NC_000006.12:33198321:C:G p.(Gly209Ala) NC_000006.12:33198321:C:G p.(Gly209Ala) NC_000006.12:33198321:C:G Identity +NM_001168236.2:c.2302T>G NP_001161708.1:p.Ser768Ala NC_000001.11:179108901:A:C p.(Ser768Ala) NC_000001.11:179108901:A:C p.(Ser768Ala) NC_000001.11:179108901:A:C Identity +NM_001193307.2:c.2506A>T NP_001180236.1:p.Met836Leu NC_000007.14:93103591:T:A p.(Met836Leu) NC_000007.14:93103591:T:A p.(Met836Leu) NC_000007.14:93103591:T:A Identity +NM_001193307.2:c.4280A>G NP_001180236.1:p.Gln1427Arg NC_000007.14:93101817:T:C p.(Gln1427Arg) NC_000007.14:93101817:T:C p.(Gln1427Arg) NC_000007.14:93101817:T:C Identity +NM_001251888.2:c.125G>A NP_001238817.1:p.Arg42Gln NC_000017.11:81979205:G:A p.(Arg42Gln) NC_000017.11:81979205:G:A p.(Arg42Gln) NC_000017.11:81979205:G:A Identity +NM_001134707.2:c.1229A>G NP_001128179.1:p.Asn410Ser NC_000009.12:133713045:T:C p.(Asn410Ser) NC_000009.12:133713045:T:C p.(Asn410Ser) NC_000009.12:133713045:T:C Identity +NM_001346505.2:c.1102T>G NP_001333434.1:p.Leu368Val NC_000006.12:148525317:T:G p.(Leu368Val) NC_000006.12:148525317:T:G p.(Leu368Val) NC_000006.12:148525317:T:G Identity +NM_001304829.2:c.448G>A NP_001291758.1:p.Val150Ile NC_000001.11:100107916:C:T p.(Val150Ile) NC_000001.11:100107916:C:T p.(Val150Ile) NC_000001.11:100107916:C:T Identity +NM_001024401.3:c.854C>G NP_001019572.1:p.Thr285Ser NC_000016.10:28320499:C:G p.(Thr285Ser) NC_000016.10:28320499:C:G p.(Thr285Ser) NC_000016.10:28320499:C:G Identity +NM_001370096.2:c.734A>G NP_001357025.1:p.Asp245Gly NC_000019.10:55530045:T:C p.(Asp245Gly) NC_000019.10:55530045:T:C p.(Asp245Gly) NC_000019.10:55530045:T:C Identity +NM_001286164.2:c.3368C>T NP_001273093.1:p.Thr1123Met NC_000001.11:176876631:G:A p.(Thr1123Met) NC_000001.11:176876631:G:A p.(Thr1123Met) NC_000001.11:176876631:G:A Identity +NM_153334.7:c.932G>A NP_699165.3:p.Gly311Glu NC_000022.11:20430830:C:T p.(Gly311Glu) NC_000022.11:20430830:C:T p.(Gly311Glu) NC_000022.11:20430830:C:T Identity +NM_013243.4:c.97A>C NP_037375.2:p.Asn33His NC_000015.10:51682530:A:C p.(Asn33His) NC_000015.10:51682530:A:C p.(Asn33His) NC_000015.10:51682530:A:C Identity +NM_016510.7:c.748G>A NP_057594.5:p.Val250Met NC_000002.12:238082179:G:A p.(Val250Met) NC_000002.12:238082179:G:A p.(Val250Met) NC_000002.12:238082179:G:A Identity +NM_001349253.2:c.104A>G NP_001336182.1:p.Lys35Arg NC_000003.12:38950258:T:C p.(Lys35Arg) NC_000003.12:38950258:T:C p.(Lys35Arg) NC_000003.12:38950258:T:C Identity +NM_178483.3:c.155G>A NP_848578.1:p.Arg52Lys NC_000020.11:18813969:G:A p.(Arg52Lys) NC_000020.11:18813969:G:A p.(Arg52Lys) NC_000020.11:18813969:G:A Identity +NM_015356.5:c.1256A>G NP_056171.3:p.Gln419Arg NC_000008.11:143810922:T:C p.(Gln419Arg) NC_000008.11:143810922:T:C p.(Gln419Arg) NC_000008.11:143810922:T:C Identity +NM_001363734.1:c.3433G>A NP_001350663.1:p.Ala1145Thr NC_000020.11:32436327:G:A p.(Ala1145Thr) NC_000020.11:32436327:G:A p.(Ala1145Thr) NC_000020.11:32436327:G:A Identity +NM_001144952.2:c.1072C>T NP_001138424.1:p.Arg358Trp NC_000017.11:73435572:G:A p.(Arg358Trp) NC_000017.11:73435572:G:A p.(Arg358Trp) NC_000017.11:73435572:G:A Identity +NM_001144952.2:c.2573T>G NP_001138424.1:p.Val858Gly NC_000017.11:73402052:A:C p.(Val858Gly) NC_000017.11:73402052:A:C p.(Val858Gly) NC_000017.11:73402052:A:C Identity +NM_001290292.3:c.220C>T NP_001277221.1:p.Arg74Cys NC_000014.9:24440788:G:A p.(Arg74Cys) NC_000014.9:24440788:G:A p.(Arg74Cys) NC_000014.9:24440788:G:A Identity +NM_001204204.3:c.884A>G NP_001191133.1:p.Asn295Ser NC_000022.11:30422327:A:G p.(Asn295Ser) NC_000022.11:30422327:A:G p.(Asn295Ser) NC_000022.11:30422327:A:G Identity +NM_152744.4:c.3274C>T NP_689957.3:p.Pro1092Ser NC_000007.14:4079533:C:T p.(Pro1092Ser) NC_000007.14:4079533:C:T p.(Pro1092Ser) NC_000007.14:4079533:C:T Identity +NM_001039573.3:c.646G>T NP_001034662.3:p.Gly216Trp NC_000017.11:77194847:G:T p.(Gly216Trp) NC_000017.11:77194847:G:T p.(Gly216Trp) NC_000017.11:77194847:G:T Identity +NM_006843.3:c.197G>C NP_006834.2:p.Gly66Ala NC_000012.12:113398842:C:G p.(Gly66Ala) NC_000012.12:113398842:C:G p.(Gly66Ala) NC_000012.12:113398842:C:G Identity +NM_001136026.3:c.425G>C NP_001129498.1:p.Ser142Thr NC_000003.12:10312607:C:G p.(Ser142Thr) NC_000003.12:10312607:C:G p.(Ser142Thr) NC_000003.12:10312607:C:G Identity +NM_001144952.2:c.4517C>T NP_001138424.1:p.Thr1506Ile NC_000017.11:73385898:G:A p.(Thr1506Ile) NC_000017.11:73385898:G:A p.(Thr1506Ile) NC_000017.11:73385898:G:A Identity +NM_001080837.4:c.412C>T NP_001074306.3:p.Arg138Trp NC_000017.11:28364428:G:A p.(Arg138Trp) NC_000017.11:28364428:G:A p.(Arg138Trp) NC_000017.11:28364428:G:A Identity +NM_001276418.2:c.1789C>T NP_001263347.1:p.Pro597Ser NC_000009.12:136475826:G:A p.(Pro597Ser) NC_000009.12:136475826:G:A p.(Pro597Ser) NC_000009.12:136475826:G:A Identity +NM_001276418.2:c.2026C>T NP_001263347.1:p.Pro676Ser NC_000009.12:136475589:G:A p.(Pro676Ser) NC_000009.12:136475589:G:A p.(Pro676Ser) NC_000009.12:136475589:G:A Identity +NM_001356505.2:c.3124G>A NP_001343434.1:p.Ala1042Thr NC_000001.11:177929919:C:T p.(Ala1042Thr) NC_000001.11:177929919:C:T p.(Ala1042Thr) NC_000001.11:177929919:C:T Identity +NM_015490.4:c.3496A>G NP_056305.1:p.Ile1166Val NC_000010.11:100487659:T:C p.(Ile1166Val) NC_000010.11:100487659:T:C p.(Ile1166Val) NC_000010.11:100487659:T:C Identity +NM_001276418.2:c.1753C>T NP_001263347.1:p.Arg585Cys NC_000009.12:136475862:G:A p.(Arg585Cys) NC_000009.12:136475862:G:A p.(Arg585Cys) NC_000009.12:136475862:G:A Identity +NM_001411070.1:c.1051A>G NP_001397999.1:p.Thr351Ala NC_000010.11:119904226:A:G p.(Thr351Ala) NC_000010.11:119904226:A:G p.(Thr351Ala) NC_000010.11:119904226:A:G Identity +NM_031454.2:c.58C>T NP_113642.1:p.Leu20Phe NC_000022.11:50201093:C:T p.(Leu20Phe) NC_000022.11:50201093:C:T p.? NC_000022.11:50201093:C:T Identity +NM_000655.5:c.325G>A NP_000646.3:p.Glu109Lys NC_000001.11:169708563:C:T p.(Glu109Lys) NC_000001.11:169708563:C:T p.(Glu109Lys) NC_000001.11:169708563:C:T Identity +NM_001193336.4:c.118C>T NP_001180265.2:p.Arg40Cys NC_000022.11:30538838:G:A p.(Arg40Cys) NC_000022.11:30538838:G:A p.(Arg40Cys) NC_000022.11:30538838:G:A Identity +NM_001276418.2:c.3946A>G NP_001263347.1:p.Asn1316Asp NC_000009.12:136466445:T:C p.(Asn1316Asp) NC_000009.12:136466445:T:C p.(Asn1316Asp) NC_000009.12:136466445:T:C Identity +NM_001201572.2:c.577A>G NP_001188501.1:p.Ile193Val NC_000003.12:42557645:T:C p.(Ile193Val) NC_000003.12:42557645:T:C p.(Ile193Val) NC_000003.12:42557645:T:C Identity +NM_006364.4:c.286C>T NP_006355.2:p.Pro96Ser NC_000014.9:39092620:G:A p.(Pro96Ser) NC_000014.9:39092620:G:A p.(Pro96Ser) NC_000014.9:39092620:G:A Identity +NM_015490.4:c.3431G>C NP_056305.1:p.Gly1144Ala NC_000010.11:100487724:C:G p.(Gly1144Ala) NC_000010.11:100487724:C:G p.(Gly1144Ala) NC_000010.11:100487724:C:G Identity +NM_001193336.4:c.1121C>A NP_001180265.2:p.Ser374Tyr NC_000022.11:30525069:G:T p.(Ser374Tyr) NC_000022.11:30525069:G:T p.(Ser374Tyr) NC_000022.11:30525069:G:T Identity +NM_001282688.2:c.1678A>G NP_001269617.1:p.Thr560Ala NC_000009.12:89348156:A:G p.(Thr560Ala) NC_000009.12:89348156:A:G p.(Thr560Ala) NC_000009.12:89348156:A:G Identity +NM_001282688.2:c.594C>A NP_001269617.1:p.Asp198Glu NC_000009.12:89328681:C:A p.(Asp198Glu) NC_000009.12:89328681:C:A p.(Asp198Glu) NC_000009.12:89328681:C:A Identity +NM_001297592.2:c.2026G>A NP_001284521.1:p.Glu676Lys NC_000004.12:25788309:C:T p.(Glu676Lys) NC_000004.12:25788309:C:T p.(Glu676Lys) NC_000004.12:25788309:C:T Identity +NM_000655.5:c.151C>A NP_000646.3:p.Gln51Lys NC_000001.11:169708737:G:T p.(Gln51Lys) NC_000001.11:169708737:G:T p.(Gln51Lys) NC_000001.11:169708737:G:T Identity +NM_001198999.2:c.26A>G NP_001185928.1:p.Tyr9Cys NC_000015.10:47759823:A:G p.(Tyr9Cys) NC_000015.10:47759823:A:G p.(Tyr9Cys) NC_000015.10:47759823:A:G Identity +NM_001146029.3:c.1342G>A NP_001139501.1:p.Ala448Thr NC_000015.10:74411922:C:T p.(Ala448Thr) NC_000015.10:74411922:C:T p.(Ala448Thr) NC_000015.10:74411922:C:T Identity +NM_001146029.3:c.140A>G NP_001139501.1:p.His47Arg NC_000015.10:74433778:T:C p.(His47Arg) NC_000015.10:74433778:T:C p.(His47Arg) NC_000015.10:74433778:T:C Identity +NM_000450.2:c.476A>G NP_000441.2:p.Asn159Ser NC_000001.11:169731887:T:C p.(Asn159Ser) NC_000001.11:169731887:T:C p.(Asn159Ser) NC_000001.11:169731887:T:C Identity +NM_031454.2:c.1169C>G NP_113642.1:p.Ala390Gly NC_000022.11:50210728:C:G p.(Ala390Gly) NC_000022.11:50210728:C:G p.? NC_000022.11:50210728:C:G Identity +NM_003966.3:c.2059G>T NP_003957.2:p.Ala687Ser NC_000005.10:9108153:C:A p.(Ala687Ser) NC_000005.10:9108153:C:A p.(Ala687Ser) NC_000005.10:9108153:C:A Identity +NM_001146029.3:c.36C>A NP_001139501.1:p.Ser12Arg NC_000015.10:74433882:G:T p.(Ser12Arg) NC_000015.10:74433882:G:T p.(Ser12Arg) NC_000015.10:74433882:G:T Identity +NM_001308045.2:c.839G>A NP_001294974.1:p.Arg280Lys NC_000003.12:196886019:G:A p.(Arg280Lys) NC_000003.12:196886019:G:A p.(Arg280Lys) NC_000003.12:196886019:G:A Identity +NM_020163.3:c.343G>A NP_064548.1:p.Glu115Lys NC_000003.12:52442300:C:T p.(Glu115Lys) NC_000003.12:52442300:C:T p.(Glu115Lys) NC_000003.12:52442300:C:T Identity +NM_003007.5:c.430C>G NP_002998.1:p.Gln144Glu NC_000020.11:45207726:C:G p.(Gln144Glu) NC_000020.11:45207726:C:G p.(Gln144Glu) NC_000020.11:45207726:C:G Identity +NM_001199037.2:c.377G>A NP_001185966.1:p.Arg126Gln NC_000001.11:31424845:G:A p.(Arg126Gln) NC_000001.11:31424845:G:A p.(Arg126Gln) NC_000001.11:31424845:G:A Identity +NM_031459.5:c.62G>A NP_113647.1:p.Gly21Asp NC_000001.11:28259908:G:A p.(Gly21Asp) NC_000001.11:28259908:G:A p.(Gly21Asp) NC_000001.11:28259908:G:A Identity +NM_001154458.3:c.380G>A NP_001147930.1:p.Arg127Gln NC_000016.10:4783760:C:T p.(Arg127Gln) NC_000016.10:4783760:C:T p.(Arg127Gln) NC_000016.10:4783760:C:T Identity +NM_000624.6:c.557A>T NP_000615.3:p.Asp186Val NC_000014.9:94587918:A:T p.(Asp186Val) NC_000014.9:94587918:A:T p.(Asp186Val) NC_000014.9:94587918:A:T Identity +NM_001284334.2:c.194T>C NP_001271263.1:p.Ile65Thr NC_000022.11:42556550:T:C p.(Ile65Thr) NC_000022.11:42556550:T:C p.(Ile65Thr) NC_000022.11:42556550:T:C Identity +NM_001199037.2:c.809C>T NP_001185966.1:p.Ser270Leu NC_000001.11:31428993:C:T p.(Ser270Leu) NC_000001.11:31428993:C:T p.(Ser270Leu) NC_000001.11:31428993:C:T Identity +NM_001304461.2:c.869A>C NP_001291390.1:p.Asp290Ala NC_000014.9:94496408:T:G p.(Asp290Ala) NC_000014.9:94496408:T:G p.(Asp290Ala) NC_000014.9:94496408:T:G Identity +NM_001756.4:c.79G>A NP_001747.3:p.Ala27Thr NC_000014.9:94314569:C:T p.(Ala27Thr) NC_000014.9:94314569:C:T p.(Ala27Thr) NC_000014.9:94314569:C:T Identity +NM_006919.3:c.1022C>A NP_008850.1:p.Ala341Glu NC_000018.10:63655807:G:T p.(Ala341Glu) NC_000018.10:63655807:G:T p.(Ala341Glu) NC_000018.10:63655807:G:T Identity +NM_014712.3:c.2934GGA[1] NP_055527.1:p.Glu979del NC_000016.10:30969604:GAGGAGGA:GAGGA p.(Glu979del) NC_000016.10:30969606:G:GGA ERR:Parse ERR:Parse Identity +NM_001306199.2:c.437A>G NP_001293128.1:p.Tyr146Cys NC_000004.12:139529155:T:C p.(Tyr146Cys) NC_000004.12:139529155:T:C p.(Tyr146Cys) NC_000004.12:139529155:T:C Identity +NM_012426.5:c.2792T>G NP_036558.3:p.Val931Gly NC_000016.10:70565489:T:G p.(Val931Gly) NC_000016.10:70565489:T:G p.(Val931Gly) NC_000016.10:70565489:T:G Identity +NM_001756.4:c.713G>A NP_001747.3:p.Ser238Asn NC_000014.9:94309906:C:T p.(Ser238Asn) NC_000014.9:94309906:C:T p.(Ser238Asn) NC_000014.9:94309906:C:T Identity +NM_001756.4:c.802C>T NP_001747.3:p.Pro268Ser NC_000014.9:94309817:G:A p.(Pro268Ser) NC_000014.9:94309817:G:A p.(Pro268Ser) NC_000014.9:94309817:G:A Identity +NM_001375428.1:c.772G>A NP_001362357.1:p.Gly258Ser NC_000001.11:210242037:G:A p.(Gly258Ser) NC_000001.11:210242037:G:A p.(Gly258Ser) NC_000001.11:210242037:G:A Identity +NM_001080517.3:c.2230C>T NP_001073986.1:p.His744Tyr NC_000003.12:9448513:C:T p.(His744Tyr) NC_000003.12:9448513:C:T p.(His744Tyr) NC_000003.12:9448513:C:T Identity +NM_001369346.1:c.3727C>T NP_001356275.1:p.Pro1243Ser NC_000002.12:25742435:G:A p.(Pro1243Ser) NC_000002.12:25742435:G:A p.(Pro1243Ser) NC_000002.12:25742435:G:A Identity +NM_007165.5:c.1024G>A NP_009096.2:p.Gly342Arg NC_000019.10:2248174:G:A p.(Gly342Arg) NC_000019.10:2248174:G:A p.(Gly342Arg) NC_000019.10:2248174:G:A Identity +NM_003015.3:c.751G>A NP_003006.2:p.Ala251Thr NC_000010.11:97767716:C:T p.(Ala251Thr) NC_000010.11:97767716:C:T p.(Ala251Thr) NC_000010.11:97767716:C:T Identity +NM_006842.3:c.668T>C NP_006833.2:p.Val223Ala NC_000011.10:66057265:T:C p.(Val223Ala) NC_000011.10:66057265:T:C p.(Val223Ala) NC_000011.10:66057265:T:C Identity +NM_001322879.2:c.632C>T NP_001309808.1:p.Thr211Ile NC_000008.11:14102385:G:A p.(Thr211Ile) NC_000008.11:14102385:G:A p.(Thr211Ile) NC_000008.11:14102385:G:A Identity +NM_001018039.1:c.958G>A NP_001018049.1:p.Ala320Thr NC_000010.11:7248561:C:T p.(Ala320Thr) NC_000010.11:7248561:C:T p.(Ala320Thr) NC_000010.11:7248561:C:T Identity +NM_001002759.2:c.576A>G NP_001002759.1:p.Ile192Met NC_000010.11:104125541:A:G p.(Ile192Met) NC_000010.11:104125541:A:G p.(Ile192Met) NC_000010.11:104125541:A:G Identity +NM_001261411.2:c.813C>G NP_001248340.1:p.Asn271Lys NC_000012.12:131725610:C:G p.(Asn271Lys) NC_000012.12:131725610:C:G p.(Asn271Lys) NC_000012.12:131725610:C:G Identity +NM_001204173.2:c.757C>A NP_001191102.1:p.Gln253Lys NC_000008.11:66840017:C:A p.(Gln253Lys) NC_000008.11:66840017:C:A p.(Gln253Lys) NC_000008.11:66840017:C:A Identity +NM_001007467.3:c.2867A>G NP_001007468.1:p.Glu956Gly NC_000022.11:31613725:A:G p.(Glu956Gly) NC_000022.11:31613725:A:G p.(Glu956Gly) NC_000022.11:31613725:A:G Identity +NM_014109.4:c.4158C>G NP_054828.2:p.Phe1386Leu NC_000008.11:123321148:G:C p.(Phe1386Leu) NC_000008.11:123321148:G:C p.(Phe1386Leu) NC_000008.11:123321148:G:C Identity +NM_005475.3:c.706G>A NP_005466.1:p.Val236Met NC_000012.12:111418850:G:A p.(Val236Met) NC_000012.12:111418850:G:A p.(Val236Met) NC_000012.12:111418850:G:A Identity +NM_001159746.3:c.64G>T NP_001153218.1:p.Gly22Trp NC_000017.11:1125226:C:A p.(Gly22Trp) NC_000017.11:1125226:C:A p.(Gly22Trp) NC_000017.11:1125226:C:A Identity +NM_001388272.1:c.36C>A NP_001375201.1:p.Asp12Glu NC_000010.11:80538366:C:A p.(Asp12Glu) NC_000010.11:80538366:C:A p.(Asp12Glu) NC_000010.11:80538366:C:A Identity +NM_001136257.2:c.485T>C NP_001129729.1:p.Ile162Thr NC_000004.12:107899603:T:C p.(Ile162Thr) NC_000004.12:107899603:T:C p.(Ile162Thr) NC_000004.12:107899603:T:C Identity +NM_005475.3:c.356G>A NP_005466.1:p.Arg119His NC_000012.12:111418500:G:A p.(Arg119His) NC_000012.12:111418500:G:A p.(Arg119His) NC_000012.12:111418500:G:A Identity +NM_001301821.2:c.289G>A NP_001288750.1:p.Val97Ile NC_000007.14:117422275:C:T p.(Val97Ile) NC_000007.14:117422275:C:T p.(Val97Ile) NC_000007.14:117422275:C:T Identity +NM_001145795.2:c.820G>A NP_001139267.1:p.Val274Met NC_000016.10:28866913:G:A p.(Val274Met) NC_000016.10:28866913:G:A p.(Val274Met) NC_000016.10:28866913:G:A Identity +NM_001371302.1:c.1919C>T NP_001358231.1:p.Ala640Val NC_000002.12:235042687:C:T p.(Ala640Val) NC_000002.12:235042687:C:T p.(Ala640Val) NC_000002.12:235042687:C:T Identity +NM_001162530.2:c.719C>G NP_001156002.1:p.Pro240Arg NC_000001.11:36308467:C:G p.(Pro240Arg) NC_000001.11:36308467:C:G p.(Pro240Arg) NC_000001.11:36308467:C:G Identity +NM_001145719.1:c.100A>G NP_001139191.1:p.Met34Val NC_000010.11:80570215:A:G p.(Met34Val) NC_000010.11:80570215:A:G p.(Met34Val) NC_000010.11:80570215:A:G Identity +NM_001170535.3:c.1382G>T NP_001164006.1:p.Trp461Leu NC_000001.11:1527738:G:T p.(Trp461Leu) NC_000001.11:1527738:G:T p.(Trp461Leu) NC_000001.11:1527738:G:T Identity +NM_020870.4:c.2025G>T NP_065921.2:p.Glu675Asp NC_000004.12:169116382:C:A p.(Glu675Asp) NC_000004.12:169116382:C:A p.(Glu675Asp) NC_000004.12:169116382:C:A Identity +NM_001103160.2:c.419G>A NP_001096630.1:p.Arg140His NC_000001.11:20724210:C:T p.(Arg140His) NC_000001.11:20724210:C:T p.(Arg140His) NC_000001.11:20724210:C:T Identity +NM_001365079.1:c.1868C>A NP_001352008.1:p.Ala623Glu NC_000010.11:103602992:G:T p.(Ala623Glu) NC_000010.11:103602992:G:T p.(Ala623Glu) NC_000010.11:103602992:G:T Identity +NM_001017995.3:c.1883A>G NP_001017995.1:p.Asp628Gly NC_000005.10:172339221:T:C p.(Asp628Gly) NC_000005.10:172339221:T:C p.(Asp628Gly) NC_000005.10:172339221:T:C Identity +NM_016148.5:c.5486C>T NP_057232.2:p.Thr1829Met NC_000019.10:50666473:G:A p.(Thr1829Met) NC_000019.10:50666473:G:A p.(Thr1829Met) NC_000019.10:50666473:G:A Identity +NM_001166356.2:c.878C>G NP_001159828.1:p.Thr293Ser NC_000012.12:57233229:C:G p.(Thr293Ser) NC_000012.12:57233229:C:G p.(Thr293Ser) NC_000012.12:57233229:C:G Identity +NM_001207020.3:c.831C>A NP_001193949.1:p.Phe277Leu NC_000022.11:41910127:G:T p.(Phe277Leu) NC_000022.11:41910127:G:T p.(Phe277Leu) NC_000022.11:41910127:G:T Identity +NM_138392.4:c.1253C>T NP_612401.2:p.Ser418Leu NC_000019.10:40586860:C:T p.(Ser418Leu) NC_000019.10:40586860:C:T p.(Ser418Leu) NC_000019.10:40586860:C:T Identity +NM_001649.4:c.859G>A NP_001640.1:p.Glu287Lys NC_000023.11:9894766:G:A p.(Glu287Lys) NC_000023.11:9894766:G:A p.(Glu287Lys) NC_000023.11:9894766:G:A Identity +NM_001099289.3:c.713G>A NP_001092759.1:p.Gly238Asp NC_000002.12:109347812:G:A p.(Gly238Asp) NC_000002.12:109347812:G:A p.(Gly238Asp) NC_000002.12:109347812:G:A Identity +NM_016148.5:c.5560C>A NP_057232.2:p.Pro1854Thr NC_000019.10:50666399:G:T p.(Pro1854Thr) NC_000019.10:50666399:G:T p.(Pro1854Thr) NC_000019.10:50666399:G:T Identity +NM_138392.4:c.1604G>A NP_612401.2:p.Arg535His NC_000019.10:40590257:G:A p.(Arg535His) NC_000019.10:40590257:G:A p.(Arg535His) NC_000019.10:40590257:G:A Identity +NM_138392.4:c.1808A>G NP_612401.2:p.Glu603Gly NC_000019.10:40590768:A:G p.(Glu603Gly) NC_000019.10:40590768:A:G p.(Glu603Gly) NC_000019.10:40590768:A:G Identity +NM_001330112.2:c.149T>G NP_001317041.1:p.Leu50Arg NC_000010.11:87151502:T:G p.(Leu50Arg) NC_000010.11:87151502:T:G p.(Leu50Arg) NC_000010.11:87151502:T:G Identity +NM_001163678.2:c.709G>A NP_001157150.1:p.Ala237Thr NC_000003.12:158098277:C:T p.(Ala237Thr) NC_000003.12:158098277:C:T p.(Ala237Thr) NC_000003.12:158098277:C:T Identity +NM_001367089.1:c.3610G>A NP_001354018.1:p.Ala1204Thr NC_000020.11:3693029:C:T p.(Ala1204Thr) NC_000020.11:3693029:C:T p.(Ala1204Thr) NC_000020.11:3693029:C:T Identity +NM_001145176.2:c.917C>T NP_001138648.1:p.Pro306Leu NC_000019.10:55437663:G:A p.(Pro306Leu) NC_000019.10:55437663:G:A p.(Pro306Leu) NC_000019.10:55437663:G:A Identity +NM_001649.4:c.748C>T NP_001640.1:p.Arg250Trp NC_000023.11:9894655:C:T p.(Arg250Trp) NC_000023.11:9894655:C:T p.(Arg250Trp) NC_000023.11:9894655:C:T Identity +NM_024857.5:c.2596A>T NP_079133.3:p.Ser866Cys NC_000017.11:30855287:A:T p.(Ser866Cys) NC_000017.11:30855287:A:T p.(Ser866Cys) NC_000017.11:30855287:A:T Identity +NM_024857.5:c.2611G>A NP_079133.3:p.Val871Ile NC_000017.11:30855302:G:A p.(Val871Ile) NC_000017.11:30855302:G:A p.(Val871Ile) NC_000017.11:30855302:G:A Identity +NM_001366686.3:c.2908G>A NP_001353615.1:p.Val970Ile NC_000011.10:116858556:C:T p.(Val970Ile) NC_000011.10:116858556:C:T p.(Val970Ile) NC_000011.10:116858556:C:T Identity +NM_005069.6:c.1988T>C NP_005060.1:p.Ile663Thr NC_000021.9:36748075:T:C p.(Ile663Thr) NC_000021.9:36748075:T:C p.(Ile663Thr) NC_000021.9:36748075:T:C Identity +NM_001649.4:c.1475C>T NP_001640.1:p.Ala492Val NC_000023.11:9895382:C:T p.(Ala492Val) NC_000023.11:9895382:C:T p.(Ala492Val) NC_000023.11:9895382:C:T Identity +NM_001039211.3:c.878A>G NP_001034300.2:p.Asp293Gly NC_000001.11:1460814:A:G p.(Asp293Gly) NC_000001.11:1460814:A:G p.(Asp293Gly) NC_000001.11:1460814:A:G Identity +NM_001284245.3:c.902A>G NP_001271174.1:p.Asn301Ser NC_000014.9:71588773:A:G p.(Asn301Ser) NC_000014.9:71588773:A:G p.(Asn301Ser) NC_000014.9:71588773:A:G Identity +NM_015073.3:c.1363G>T NP_055888.1:p.Gly455Cys NC_000019.10:38082927:G:T p.(Gly455Cys) NC_000019.10:38082927:G:T p.(Gly455Cys) NC_000019.10:38082927:G:T Identity +NM_001039508.2:c.781A>G NP_001034597.1:p.Ile261Val NC_000020.11:1630273:T:C p.(Ile261Val) NC_000020.11:1630273:T:C p.(Ile261Val) NC_000020.11:1630273:T:C Identity +NM_003036.4:c.274A>C NP_003027.1:p.Met92Leu NC_000001.11:2229039:A:C p.(Met92Leu) NC_000001.11:2229039:A:C p.(Met92Leu) NC_000001.11:2229039:A:C Identity +NM_001282205.2:c.281G>A NP_001269134.1:p.Cys94Tyr NC_000009.12:34637290:C:T p.(Cys94Tyr) NC_000009.12:34637290:C:T p.(Cys94Tyr) NC_000009.12:34637290:C:T Identity +NM_006747.4:c.2723C>G NP_006738.3:p.Ser908Cys NC_000011.10:65649841:C:G p.(Ser908Cys) NC_000011.10:65649841:C:G p.(Ser908Cys) NC_000011.10:65649841:C:G Identity +NM_001135163.1:c.298C>T NP_001128635.1:p.Arg100Trp NC_000019.10:49960713:G:A p.(Arg100Trp) NC_000019.10:49960713:G:A p.(Arg100Trp) NC_000019.10:49960713:G:A Identity +NM_003930.5:c.53G>T NP_003921.2:p.Arg18Met NC_000007.14:26864376:C:A p.(Arg18Met) NC_000007.14:26864376:C:A p.(Arg18Met) NC_000007.14:26864376:C:A Identity +NM_001284245.3:c.4474A>G NP_001271174.1:p.Ile1492Val NC_000014.9:71724694:A:G p.(Ile1492Val) NC_000014.9:71724694:A:G p.(Ile1492Val) NC_000014.9:71724694:A:G Identity +NM_015073.3:c.2064G>A NP_055888.1:p.Met688Ile NC_000019.10:38106570:G:A p.(Met688Ile) NC_000019.10:38106570:G:A p.(Met688Ile) NC_000019.10:38106570:G:A Identity +NM_016932.5:c.256C>G NP_058628.3:p.Leu86Val NC_000002.12:45008854:G:C p.(Leu86Val) NC_000002.12:45008854:G:C p.(Leu86Val) NC_000002.12:45008854:G:C Identity +NM_001046.3:c.844G>A NP_001037.1:p.Val282Ile NC_000005.10:128112900:G:A p.(Val282Ile) NC_000005.10:128112900:G:A p.(Val282Ile) NC_000005.10:128112900:G:A Identity +NM_001145961.2:c.1696G>A NP_001139433.1:p.Glu566Lys NC_000016.10:67949851:C:T p.(Glu566Lys) NC_000016.10:67949851:C:T p.(Glu566Lys) NC_000016.10:67949851:C:T Identity +NM_020846.2:c.224C>T NP_065897.1:p.Ser75Leu NC_000004.12:48341962:C:T p.(Ser75Leu) NC_000004.12:48341962:C:T p.(Ser75Leu) NC_000004.12:48341962:C:T Identity +NM_001184714.2:c.229G>A NP_001171643.1:p.Val77Met NC_000001.11:160496213:C:T p.(Val77Met) NC_000001.11:160496213:C:T p.(Val77Met) NC_000001.11:160496213:C:T Identity +NM_001286123.3:c.1430G>A NP_001273052.1:p.Arg477His NC_000006.12:25913323:C:T p.(Arg477His) NC_000006.12:25913323:C:T p.(Arg477His) NC_000006.12:25913323:C:T Identity +NM_000578.4:c.453G>C NP_000569.3:p.Gln151His NC_000002.12:218386693:G:C p.(Gln151His) NC_000002.12:218386693:G:C p.(Gln151His) NC_000002.12:218386693:G:C Identity +NM_000338.3:c.3064A>G NP_000329.2:p.Thr1022Ala NC_000015.10:48299242:A:G p.(Thr1022Ala) NC_000015.10:48299242:A:G p.(Thr1022Ala) NC_000015.10:48299242:A:G Identity +NM_001318192.2:c.254C>T NP_001305121.1:p.Thr85Ile NC_000007.14:135708224:G:A p.(Thr85Ile) NC_000007.14:135708224:G:A p.(Thr85Ile) NC_000007.14:135708224:G:A Identity +NM_001145998.2:c.1532A>G NP_001139470.1:p.Asp511Gly NC_000003.12:121930910:A:G p.(Asp511Gly) NC_000003.12:121930910:A:G p.(Asp511Gly) NC_000003.12:121930910:A:G Identity +NM_018593.5:c.493A>G NP_061063.2:p.Ile165Val NC_000006.12:111177215:A:G p.(Ile165Val) NC_000006.12:111177215:A:G p.(Ile165Val) NC_000006.12:111177215:A:G Identity +NM_001271765.2:c.103G>A NP_001258694.1:p.Gly35Ser NC_000017.11:75093738:G:A p.(Gly35Ser) NC_000017.11:75093738:G:A p.(Gly35Ser) NC_000017.11:75093738:G:A Identity +NM_001128588.4:c.603G>C NP_001122060.3:p.Trp201Cys NC_000018.10:45734366:G:C p.(Trp201Cys) NC_000018.10:45734366:G:C p.(Trp201Cys) NC_000018.10:45734366:G:C Identity +NM_016582.3:c.1508C>T NP_057666.1:p.Ser503Leu NC_000011.10:60937952:G:A p.(Ser503Leu) NC_000011.10:60937952:G:A p.(Ser503Leu) NC_000011.10:60937952:G:A Identity +NM_033125.4:c.863T>C NP_149116.2:p.Leu288Pro NC_000006.12:110442563:A:G p.(Leu288Pro) NC_000006.12:110442563:A:G p.(Leu288Pro) NC_000006.12:110442563:A:G Identity +NM_001286455.1:c.1046T>C NP_001273384.1:p.Ile349Thr NC_000006.12:3273226:A:G p.(Ile349Thr) NC_000006.12:3273226:A:G p.(Ile349Thr) NC_000006.12:3273226:A:G Identity +NM_005847.5:c.998T>C NP_005838.3:p.Ile333Thr NC_000005.10:139379281:A:G p.(Ile333Thr) NC_000005.10:139379281:A:G p.(Ile333Thr) NC_000005.10:139379281:A:G Identity +NM_001286514.2:c.1976T>A NP_001273443.1:p.Leu659His NC_000012.12:14447036:T:A p.(Leu659His) NC_000012.12:14447036:T:A p.(Leu659His) NC_000012.12:14447036:T:A Identity +NM_001267812.2:c.703C>T NP_001254741.1:p.Arg235Trp NC_000007.14:100857121:C:T p.(Arg235Trp) NC_000007.14:100857121:C:T p.(Arg235Trp) NC_000007.14:100857121:C:T Identity +NM_001145975.2:c.1622A>G NP_001139447.1:p.Gln541Arg NC_000017.11:28496453:A:G p.(Gln541Arg) NC_000017.11:28496453:A:G p.(Gln541Arg) NC_000017.11:28496453:A:G Identity +NM_001256160.3:c.1394A>G NP_001243089.1:p.Asn465Ser NC_000016.10:10472150:A:G p.(Asn465Ser) NC_000016.10:10472150:A:G p.(Asn465Ser) NC_000016.10:10472150:A:G Identity +NM_013356.3:c.158G>C NP_037488.2:p.Gly53Ala NC_000022.11:38082715:C:G p.(Gly53Ala) NC_000022.11:38082715:C:G p.(Gly53Ala) NC_000022.11:38082715:C:G Identity +NM_001382629.1:c.139A>C NP_001369558.1:p.Ile47Leu NC_000006.12:73641845:T:G p.(Ile47Leu) NC_000006.12:73641845:T:G p.(Ile47Leu) NC_000006.12:73641845:T:G Identity +NM_207348.3:c.677C>T NP_997231.1:p.Pro226Leu NC_000001.11:15738672:C:T p.(Pro226Leu) NC_000001.11:15738672:C:T p.(Pro226Leu) NC_000001.11:15738672:C:T Identity +NM_001205206.4:c.766C>T NP_001192135.1:p.Arg256Trp NC_000021.9:45531571:G:A p.(Arg256Trp) NC_000021.9:45531571:G:A p.(Arg256Trp) NC_000021.9:45531571:G:A Identity +NM_001039752.4:c.143G>A NP_001034841.3:p.Arg48His NC_000011.10:63290307:G:A p.(Arg48His) NC_000011.10:63290307:G:A p.(Arg48His) NC_000011.10:63290307:G:A Identity +NM_001394058.1:c.121G>A NP_001380987.1:p.Ala41Thr NC_000011.10:63229531:C:T p.(Ala41Thr) NC_000011.10:63229531:C:T p.(Ala41Thr) NC_000011.10:63229531:C:T Identity +NM_022042.4:c.1910A>C NP_071325.2:p.Tyr637Ser NC_000004.12:989028:T:G p.(Tyr637Ser) NC_000004.12:989028:T:G p.(Tyr637Ser) NC_000004.12:989028:T:G Identity +NM_001167962.2:c.575G>A NP_001161434.1:p.Cys192Tyr NC_000007.14:103410544:C:T p.(Cys192Tyr) NC_000007.14:103410544:C:T p.(Cys192Tyr) NC_000007.14:103410544:C:T Identity +NM_001040454.1:c.737T>C NP_001035544.1:p.Val246Ala NC_000003.12:48631751:A:G p.(Val246Ala) NC_000003.12:48631751:A:G p.(Val246Ala) NC_000003.12:48631751:A:G Identity +NM_021977.4:c.1129G>A NP_068812.1:p.Gly377Ser NC_000006.12:160437051:G:A p.(Gly377Ser) NC_000006.12:160437051:G:A p.(Gly377Ser) NC_000006.12:160437051:G:A Identity +NM_001366322.1:c.1177G>C NP_001353251.1:p.Asp393His NC_000016.10:89196108:C:G p.(Asp393His) NC_000016.10:89196108:C:G p.(Asp393His) NC_000016.10:89196108:C:G Identity +NM_005847.5:c.1211C>T NP_005838.3:p.Ala404Val NC_000005.10:139378319:G:A p.(Ala404Val) NC_000005.10:139378319:G:A p.(Ala404Val) NC_000005.10:139378319:G:A Identity +NM_005847.5:c.1316T>C NP_005838.3:p.Ile439Thr NC_000005.10:139378111:A:G p.(Ile439Thr) NC_000005.10:139378111:A:G p.(Ile439Thr) NC_000005.10:139378111:A:G Identity +NM_005847.5:c.1654A>C NP_005838.3:p.Ile552Leu NC_000005.10:139372148:T:G p.(Ile552Leu) NC_000005.10:139372148:T:G p.(Ile552Leu) NC_000005.10:139372148:T:G Identity +NM_001144889.2:c.1157G>T NP_001138361.1:p.Gly386Val NC_000002.12:219165178:C:A p.(Gly386Val) NC_000002.12:219165178:C:A p.(Gly386Val) NC_000002.12:219165178:C:A Identity +NM_013386.5:c.317T>G NP_037518.3:p.Ile106Ser NC_000001.11:108182021:A:C p.(Ile106Ser) NC_000001.11:108182021:A:C p.(Ile106Ser) NC_000001.11:108182021:A:C Identity +NM_001315501.2:c.394G>A NP_001302430.1:p.Val132Met NC_000011.10:2903483:G:A p.(Val132Met) NC_000011.10:2903483:G:A p.(Val132Met) NC_000011.10:2903483:G:A Identity +NM_004790.5:c.1009C>T NP_004781.2:p.His337Tyr NC_000011.10:62981012:G:A p.(His337Tyr) NC_000011.10:62981012:G:A p.(His337Tyr) NC_000011.10:62981012:G:A Identity +NM_001199633.2:c.1642A>G NP_001186562.1:p.Ile548Val NC_000009.12:84285349:T:C p.(Ile548Val) NC_000009.12:84285349:T:C p.(Ile548Val) NC_000009.12:84285349:T:C Identity +NM_001199633.2:c.2056G>A NP_001186562.1:p.Gly686Arg NC_000009.12:84278237:C:T p.(Gly686Arg) NC_000009.12:84278237:C:T p.(Gly686Arg) NC_000009.12:84278237:C:T Identity +NM_001199633.2:c.1201T>G NP_001186562.1:p.Leu401Val NC_000009.12:84288126:A:C p.(Leu401Val) NC_000009.12:84288126:A:C p.(Leu401Val) NC_000009.12:84288126:A:C Identity +NM_001286233.2:c.175G>A NP_001273162.1:p.Glu59Lys NC_000012.12:7832726:C:T p.(Glu59Lys) NC_000012.12:7832726:C:T p.(Glu59Lys) NC_000012.12:7832726:C:T Identity +NM_001254740.2:c.679G>T NP_001241669.1:p.Asp227Tyr NC_000015.10:65650846:G:T p.(Asp227Tyr) NC_000015.10:65650846:G:T p.(Asp227Tyr) NC_000015.10:65650846:G:T Identity +NM_205850.3:c.627G>C NP_995322.1:p.Leu209Phe NC_000015.10:48136718:G:C p.(Leu209Phe) NC_000015.10:48136718:G:C p.(Leu209Phe) NC_000015.10:48136718:G:C Identity +NM_016612.4:c.149C>T NP_057696.2:p.Thr50Ile NC_000008.11:23529150:C:T p.(Thr50Ile) NC_000008.11:23529150:C:T p.(Thr50Ile) NC_000008.11:23529150:C:T Identity +NM_001350877.2:c.107G>C NP_001337806.1:p.Ser36Thr NC_000014.9:100328942:G:C p.(Ser36Thr) NC_000014.9:100328942:G:C p.(Ser36Thr) NC_000014.9:100328942:G:C Identity +NM_001317929.4:c.887A>G NP_001304858.3:p.Lys296Arg NC_000001.11:153777070:A:G p.(Lys296Arg) NC_000001.11:153777070:A:G p.(Lys296Arg) NC_000001.11:153777070:A:G Identity +NM_005094.4:c.563G>A NP_005085.2:p.Cys188Tyr NC_000009.12:128348550:G:A p.(Cys188Tyr) NC_000009.12:128348550:G:A p.(Cys188Tyr) NC_000009.12:128348550:G:A Identity +NM_080670.4:c.404G>A NP_542401.1:p.Arg135Gln NC_000005.10:140567572:G:A p.(Arg135Gln) NC_000005.10:140567572:G:A p.(Arg135Gln) NC_000005.10:140567572:G:A Identity +NM_001317056.2:c.410C>A NP_001303985.1:p.Ser137Tyr NC_000007.14:151024013:G:T p.(Ser137Tyr) NC_000007.14:151024013:G:T p.(Ser137Tyr) NC_000007.14:151024013:G:T Identity +NM_005094.4:c.520G>C NP_005085.2:p.Ala174Pro NC_000009.12:128345512:G:C p.(Ala174Pro) NC_000009.12:128345512:G:C p.(Ala174Pro) NC_000009.12:128345512:G:C Identity +NM_001287761.2:c.280C>T NP_001274690.1:p.Leu94Phe NC_000015.10:84894941:C:T p.(Leu94Phe) NC_000015.10:84894941:C:T p.(Leu94Phe) NC_000015.10:84894941:C:T Identity +NM_030777.4:c.683T>A NP_110404.1:p.Met228Lys NC_000020.11:46725718:T:A p.(Met228Lys) NC_000020.11:46725718:T:A p.(Met228Lys) NC_000020.11:46725718:T:A Identity +NM_001166347.2:c.410T>C NP_001159819.1:p.Met137Thr NC_000017.11:80222829:T:C p.(Met137Thr) NC_000017.11:80222829:T:C p.(Met137Thr) NC_000017.11:80222829:T:C Identity +NM_020041.3:c.68A>G NP_064425.2:p.His23Arg NC_000004.12:10021361:T:C p.(His23Arg) NC_000004.12:10021361:T:C p.(His23Arg) NC_000004.12:10021361:T:C Identity +NM_001004434.3:c.649G>A NP_001004434.1:p.Val217Ile NC_000001.11:26042631:C:T p.(Val217Ile) NC_000001.11:26042631:C:T p.(Val217Ile) NC_000001.11:26042631:C:T Identity +NM_022902.5:c.1163T>C NP_075053.2:p.Met388Thr NC_000005.10:69116483:T:C p.(Met388Thr) NC_000005.10:69116483:T:C p.(Met388Thr) NC_000005.10:69116483:T:C Identity +NM_001135673.4:c.1712C>T NP_001129145.1:p.Thr571Ile NC_000002.12:38296033:G:A p.(Thr571Ile) NC_000002.12:38296033:G:A p.(Thr571Ile) NC_000002.12:38296033:G:A Identity +NM_001252148.2:c.754C>T NP_001239077.1:p.Pro252Ser NC_000014.9:69458491:C:T p.(Pro252Ser) NC_000014.9:69458491:C:T p.(Pro252Ser) NC_000014.9:69458491:C:T Identity +NM_001114106.3:c.412A>G NP_001107578.1:p.Ser138Gly NC_000001.11:94827639:A:G p.(Ser138Gly) NC_000001.11:94827639:A:G p.(Ser138Gly) NC_000001.11:94827639:A:G Identity +NM_181776.3:c.244G>A NP_861441.2:p.Ala82Thr NC_000005.10:151344187:C:T p.(Ala82Thr) NC_000005.10:151344187:C:T p.(Ala82Thr) NC_000005.10:151344187:C:T Identity +NM_001145017.2:c.1400G>C NP_001138489.1:p.Cys467Ser NC_000005.10:151277528:C:G p.(Cys467Ser) NC_000005.10:151277528:C:G p.(Cys467Ser) NC_000005.10:151277528:C:G Identity +NM_001345962.2:c.217G>C NP_001332891.1:p.Val73Leu NC_000004.12:83469083:C:G p.(Val73Leu) NC_000004.12:83469083:C:G p.(Val73Leu) NC_000004.12:83469083:C:G Identity +NM_001271957.2:c.892A>C NP_001258886.1:p.Ser298Arg NC_000001.11:153960180:T:G p.(Ser298Arg) NC_000001.11:153960180:T:G p.(Ser298Arg) NC_000001.11:153960180:T:G Identity +NM_054028.2:c.304G>A NP_473369.1:p.Gly102Ser NC_000008.11:11331409:G:A p.(Gly102Ser) NC_000008.11:11331409:G:A p.(Gly102Ser) NC_000008.11:11331409:G:A Identity +NM_001320537.2:c.1333T>G NP_001307466.1:p.Ser445Ala NC_000021.9:42567046:T:G p.(Ser445Ala) NC_000021.9:42567046:T:G p.(Ser445Ala) NC_000021.9:42567046:T:G Identity +NM_001135673.4:c.1743G>C NP_001129145.1:p.Lys581Asn NC_000002.12:38296002:C:G p.(Lys581Asn) NC_000002.12:38296002:C:G p.(Lys581Asn) NC_000002.12:38296002:C:G Identity +NM_001300845.2:c.754T>G NP_001287774.1:p.Phe252Val NC_000001.11:234318756:T:G p.(Phe252Val) NC_000001.11:234318756:T:G p.(Phe252Val) NC_000001.11:234318756:T:G Identity +NM_001178015.2:c.863T>C NP_001171486.1:p.Leu288Pro NC_000002.12:161873919:T:C p.(Leu288Pro) NC_000002.12:161873919:T:C p.(Leu288Pro) NC_000002.12:161873919:T:C Identity +NM_001326559.2:c.164C>T NP_001313488.2:p.Pro55Leu NC_000002.12:219628516:C:T p.(Pro55Leu) NC_000002.12:219628516:C:T p.(Pro55Leu) NC_000002.12:219628516:C:T Identity +NM_000341.4:c.836T>C NP_000332.2:p.Met279Thr NC_000002.12:44286101:T:C p.(Met279Thr) NC_000002.12:44286101:T:C p.(Met279Thr) NC_000002.12:44286101:T:C Identity +NM_001178044.2:c.1840T>C NP_001171515.1:p.Phe614Leu NC_000006.12:31864696:A:G p.(Phe614Leu) NC_000006.12:31864696:A:G p.(Phe614Leu) NC_000006.12:31864696:A:G Identity +NM_001345962.2:c.356G>A NP_001332891.1:p.Ser119Asn NC_000004.12:83463606:C:T p.(Ser119Asn) NC_000004.12:83463606:C:T p.(Ser119Asn) NC_000004.12:83463606:C:T Identity +NM_001134658.3:c.212G>C NP_001128130.1:p.Gly71Ala NC_000010.11:93898603:G:C p.(Gly71Ala) NC_000010.11:93898603:G:C p.(Gly71Ala) NC_000010.11:93898603:G:C Identity +NM_006841.6:c.62G>A NP_006832.1:p.Gly21Glu NC_000003.12:50214260:G:A p.(Gly21Glu) NC_000003.12:50214260:G:A p.(Gly21Glu) NC_000003.12:50214260:G:A Identity +NM_001305005.3:c.153A>T NP_001291934.1:p.Leu51Phe NC_000002.12:107988307:A:T p.(Leu51Phe) NC_000002.12:107988307:A:T p.(Leu51Phe) NC_000002.12:107988307:A:T Identity +NM_001282710.2:c.352A>G NP_001269639.1:p.Met118Val NC_000002.12:11164258:A:G p.(Met118Val) NC_000002.12:11164258:A:G p.(Met118Val) NC_000002.12:11164258:A:G Identity +NM_001003841.3:c.643G>A NP_001003841.1:p.Gly215Ser NC_000005.10:1212463:G:A p.(Gly215Ser) NC_000005.10:1212463:G:A p.(Gly215Ser) NC_000005.10:1212463:G:A Identity +NM_001080431.3:c.2096T>C NP_001073900.1:p.Leu699Pro NC_000008.11:141212248:A:G p.(Leu699Pro) NC_000008.11:141212248:A:G p.(Leu699Pro) NC_000008.11:141212248:A:G Identity +NM_001199692.3:c.313A>G NP_001186621.1:p.Lys105Glu NC_000007.14:151064620:A:G p.(Lys105Glu) NC_000007.14:151064620:A:G p.(Lys105Glu) NC_000007.14:151064620:A:G Identity +NM_001326559.2:c.1336C>T NP_001313488.2:p.Arg446Cys NC_000002.12:219632986:C:T p.(Arg446Cys) NC_000002.12:219632986:C:T p.(Arg446Cys) NC_000002.12:219632986:C:T Identity +NM_000342.4:c.239G>C NP_000333.1:p.Arg80Pro NC_000017.11:44260744:C:G p.(Arg80Pro) NC_000017.11:44260744:C:G p.(Arg80Pro) NC_000017.11:44260744:C:G Identity +NM_001174089.2:c.911G>A NP_001167560.1:p.Arg304His NC_000020.11:3231366:C:T p.(Arg304His) NC_000020.11:3231366:C:T p.(Arg304His) NC_000020.11:3231366:C:T Identity +NM_001199692.3:c.868C>T NP_001186621.1:p.Arg290Trp NC_000007.14:151066894:C:T p.(Arg290Trp) NC_000007.14:151066894:C:T p.(Arg290Trp) NC_000007.14:151066894:C:T Identity +NM_001199692.3:c.1399G>A NP_001186621.1:p.Glu467Lys NC_000007.14:151070295:G:A p.(Glu467Lys) NC_000007.14:151070295:G:A p.(Glu467Lys) NC_000007.14:151070295:G:A Identity +NM_001374839.1:c.149C>T NP_001361768.1:p.Thr50Met NC_000008.11:144416640:G:A p.(Thr50Met) NC_000008.11:144416640:G:A p.(Thr50Met) NC_000008.11:144416640:G:A Identity +NM_001080397.3:c.1223C>G NP_001073866.3:p.Pro408Arg NC_000001.11:8330715:C:G p.(Pro408Arg) NC_000001.11:8330715:C:G p.(Pro408Arg) NC_000001.11:8330715:C:G Identity +NM_001164771.2:c.31G>T NP_001158243.1:p.Asp11Tyr NC_000008.11:17538854:G:T p.(Asp11Tyr) NC_000008.11:17538854:G:T p.(Asp11Tyr) NC_000008.11:17538854:G:T Identity +NM_001258411.3:c.1641C>G NP_001245340.1:p.Asn547Lys NC_000016.10:24910400:C:G p.(Asn547Lys) NC_000016.10:24910400:C:G p.(Asn547Lys) NC_000016.10:24910400:C:G Identity +NM_000453.3:c.125G>T NP_000444.1:p.Arg42Leu NC_000019.10:17872443:G:T p.(Arg42Leu) NC_000019.10:17872443:G:T p.(Arg42Leu) NC_000019.10:17872443:G:T Identity +NM_145913.5:c.1187G>A NP_666018.3:p.Cys396Tyr NC_000012.12:101180074:C:T p.(Cys396Tyr) NC_000012.12:101180074:C:T p.(Cys396Tyr) NC_000012.12:101180074:C:T Identity +NM_014229.3:c.1798C>T NP_055044.1:p.Leu600Phe NC_000003.12:10938300:C:T p.(Leu600Phe) NC_000003.12:10938300:C:T p.(Leu600Phe) NC_000003.12:10938300:C:T Identity +NM_001164771.2:c.107C>T NP_001158243.1:p.Ser36Leu NC_000008.11:17543325:C:T p.(Ser36Leu) NC_000008.11:17543325:C:T p.(Ser36Leu) NC_000008.11:17543325:C:T Identity +NM_001178015.2:c.1043C>G NP_001171486.1:p.Ala348Gly NC_000002.12:161879224:C:G p.(Ala348Gly) NC_000002.12:161879224:C:G p.(Ala348Gly) NC_000002.12:161879224:C:G Identity +NM_001199692.3:c.2039G>A NP_001186621.1:p.Arg680Gln NC_000007.14:151071452:G:A p.(Arg680Gln) NC_000007.14:151071452:G:A p.(Arg680Gln) NC_000007.14:151071452:G:A Identity +NM_001122837.2:c.69G>C NP_001116309.1:p.Pro23= NC_000001.11:155136327:G:C p.(Pro23=) NC_000001.11:155136327:G:C p.(Pro23=) NC_000001.11:155136327:G:C Identity +NM_001145211.3:c.1457C>T NP_001138683.1:p.Thr486Ile NC_000011.10:75196602:C:T p.(Thr486Ile) NC_000011.10:75196602:C:T p.(Thr486Ile) NC_000011.10:75196602:C:T Identity +NM_016354.4:c.641C>T NP_057438.3:p.Ala214Val NC_000020.11:62657094:C:T p.(Ala214Val) NC_000020.11:62657094:C:T p.(Ala214Val) NC_000020.11:62657094:C:T Identity +NM_019849.3:c.935G>T NP_062823.1:p.Gly312Val NC_000019.10:33211305:C:A p.(Gly312Val) NC_000019.10:33211305:C:A p.(Gly312Val) NC_000019.10:33211305:C:A Identity +NM_003486.7:c.391C>T NP_003477.4:p.Leu131Phe NC_000016.10:87869031:G:A p.(Leu131Phe) NC_000016.10:87869031:G:A p.(Leu131Phe) NC_000016.10:87869031:G:A Identity +NM_001112800.4:c.1958A>G NP_001106271.1:p.Gln653Arg NC_000002.12:40170345:T:C p.(Gln653Arg) NC_000002.12:40170345:T:C p.(Gln653Arg) NC_000002.12:40170345:T:C Identity +NM_003048.6:c.2237C>T NP_003039.2:p.Thr746Ile NC_000002.12:102708286:C:T p.(Thr746Ile) NC_000002.12:102708286:C:T p.(Thr746Ile) NC_000002.12:102708286:C:T Identity +NM_001323971.2:c.1922T>A NP_001310900.1:p.Val641Glu NC_000016.10:67270816:T:A p.(Val641Glu) NC_000016.10:67270816:T:A p.(Val641Glu) NC_000016.10:67270816:T:A Identity +NM_001320531.2:c.1277C>A NP_001307460.1:p.Ala426Glu NC_000003.12:112239864:G:T p.(Ala426Glu) NC_000003.12:112239864:G:T p.(Ala426Glu) NC_000003.12:112239864:G:T Identity +NM_001168247.3:c.217C>T NP_001161719.1:p.Arg73Trp NC_000001.11:41020443:G:A p.(Arg73Trp) NC_000001.11:41020443:G:A p.(Arg73Trp) NC_000001.11:41020443:G:A Identity +NM_001384609.1:c.215G>A NP_001371538.1:p.Ser72Asn NC_000013.11:87675602:G:A p.(Ser72Asn) NC_000013.11:87675602:G:A p.(Ser72Asn) NC_000013.11:87675602:G:A Identity +NM_001146009.1:c.1882C>A NP_001139481.1:p.Pro628Thr NC_000008.11:69676650:G:T p.(Pro628Thr) NC_000008.11:69676650:G:T p.(Pro628Thr) NC_000008.11:69676650:G:T Identity +NM_001289002.2:c.2065T>G NP_001275931.1:p.Phe689Val NC_000005.10:102373446:A:C p.(Phe689Val) NC_000005.10:102373446:A:C p.(Phe689Val) NC_000005.10:102373446:A:C Identity +NM_003045.5:c.1727A>G NP_003036.1:p.Tyr576Cys NC_000013.11:29516196:T:C p.(Tyr576Cys) NC_000013.11:29516196:T:C p.(Tyr576Cys) NC_000013.11:29516196:T:C Identity +NM_033262.5:c.261G>C NP_150287.1:p.Met87Ile NC_000014.9:70168161:C:G p.(Met87Ile) NC_000014.9:70168161:C:G p.(Met87Ile) NC_000014.9:70168161:C:G Identity +NM_003048.6:c.1690G>A NP_003039.2:p.Ala564Thr NC_000002.12:102701172:G:A p.(Ala564Thr) NC_000002.12:102701172:G:A p.(Ala564Thr) NC_000002.12:102701172:G:A Identity +NM_001407041.1:c.977T>C NP_001393970.1:p.Ile326Thr NC_000018.10:51065443:T:C p.(Ile326Thr) NC_000018.10:51065443:T:C p.(Ile326Thr) NC_000018.10:51065443:T:C Identity +NM_005585.5:c.454C>G NP_005576.3:p.Pro152Ala NC_000015.10:66703711:C:G p.(Pro152Ala) NC_000015.10:66703711:C:G p.(Pro152Ala) NC_000015.10:66703711:C:G Identity +NM_001289396.2:c.836C>T NP_001276325.1:p.Pro279Leu NC_000009.12:2047273:C:T p.(Pro279Leu) NC_000009.12:2047273:C:T p.(Pro279Leu) NC_000009.12:2047273:C:T Identity +NM_001128844.3:c.2267A>G NP_001122316.1:p.Gln756Arg NC_000019.10:11010523:A:G p.(Gln756Arg) NC_000019.10:11010523:A:G p.(Gln756Arg) NC_000019.10:11010523:A:G Identity +NM_001128844.3:c.704G>C NP_001122316.1:p.Gly235Ala NC_000019.10:10986536:G:C p.(Gly235Ala) NC_000019.10:10986536:G:C p.(Gly235Ala) NC_000019.10:10986536:G:C Identity +NM_003601.4:c.1319A>G NP_003592.3:p.Lys440Arg NC_000004.12:143536501:A:G p.(Lys440Arg) NC_000004.12:143536501:A:G p.(Lys440Arg) NC_000004.12:143536501:A:G Identity +NM_001007468.3:c.285T>G NP_001007469.1:p.Asp95Glu NC_000022.11:23793637:T:G p.(Asp95Glu) NC_000022.11:23793637:T:G p.(Asp95Glu) NC_000022.11:23793637:T:G Identity +NM_001184749.3:c.2059A>G NP_001171678.1:p.Ile687Val NC_000023.11:143629049:T:C p.(Ile687Val) NC_000023.11:143629049:T:C p.(Ile687Val) NC_000023.11:143629049:T:C Identity +NM_001384609.1:c.2209G>C NP_001371538.1:p.Ala737Pro NC_000013.11:87677596:G:C p.(Ala737Pro) NC_000013.11:87677596:G:C p.(Ala737Pro) NC_000013.11:87677596:G:C Identity +NM_001271946.2:c.4505G>A NP_001258875.2:p.Arg1502Gln NC_000005.10:168666541:C:T p.(Arg1502Gln) NC_000005.10:168666541:C:T p.(Arg1502Gln) NC_000005.10:168666541:C:T Identity +NM_001184749.3:c.1721T>A NP_001171678.1:p.Leu574His NC_000023.11:143629387:A:T p.(Leu574His) NC_000023.11:143629387:A:T p.(Leu574His) NC_000023.11:143629387:A:T Identity +NM_001304420.3:c.1023A>T NP_001291349.1:p.Glu341Asp NC_000003.12:57864603:A:T p.(Glu341Asp) NC_000003.12:57864603:A:T p.(Glu341Asp) NC_000003.12:57864603:A:T Identity +NM_001320531.2:c.3114C>G NP_001307460.1:p.Phe1038Leu NC_000003.12:112167326:G:C p.(Phe1038Leu) NC_000003.12:112167326:G:C p.(Phe1038Leu) NC_000003.12:112167326:G:C Identity +NM_001136123.2:c.1057A>G NP_001129595.1:p.Ile353Val NC_000010.11:100924057:A:G p.(Ile353Val) NC_000010.11:100924057:A:G p.(Ile353Val) NC_000010.11:100924057:A:G Identity +NM_001098426.2:c.1079G>A NP_001091896.1:p.Arg360His NC_000017.11:63834170:C:T p.(Arg360His) NC_000017.11:63834170:C:T p.(Arg360His) NC_000017.11:63834170:C:T Identity +NM_001077657.3:c.566T>C NP_001071125.1:p.Ile189Thr NC_000003.12:196507965:A:G p.(Ile189Thr) NC_000003.12:196507965:A:G p.(Ile189Thr) NC_000003.12:196507965:A:G Identity +NM_001128849.3:c.4225C>T NP_001122321.1:p.Gln1409Ter NC_000019.10:11039511:C:T p.(Gln1409Ter) NC_000019.10:11039511:C:T p.(Gln1409Ter) NC_000019.10:11039511:C:T Identity +NM_001128844.3:c.4830G>C NP_001122316.1:p.Lys1610Asn NC_000019.10:11060105:G:C p.(Lys1610Asn) NC_000019.10:11060105:G:C p.(Lys1610Asn) NC_000019.10:11060105:G:C Identity +NM_005585.5:c.449T>C NP_005576.3:p.Leu150Pro NC_000015.10:66703706:T:C p.(Leu150Pro) NC_000015.10:66703706:T:C p.(Leu150Pro) NC_000015.10:66703706:T:C Identity +NM_006062.3:c.412G>A NP_006053.2:p.Gly138Ser NC_000002.12:73220726:G:A p.(Gly138Ser) NC_000002.12:73220726:G:A p.(Gly138Ser) NC_000002.12:73220726:G:A Identity +NM_001291501.2:c.2395C>T NP_001278430.1:p.Arg799Trp NC_000022.11:45369978:G:A p.(Arg799Trp) NC_000022.11:45369978:G:A p.(Arg799Trp) NC_000022.11:45369978:G:A Identity +NM_015110.4:c.1030G>A NP_055925.2:p.Val344Ile NC_000009.12:70286247:G:A p.(Val344Ile) NC_000009.12:70286247:G:A p.(Val344Ile) NC_000009.12:70286247:G:A Identity +NM_015295.3:c.1802C>T NP_056110.2:p.Ala601Val NC_000018.10:2703845:C:T p.(Ala601Val) NC_000018.10:2703845:C:T p.(Ala601Val) NC_000018.10:2703845:C:T Identity +NM_001163724.3:c.107G>A NP_001157196.1:p.Arg36His NC_000001.11:3775479:G:A p.(Arg36His) NC_000001.11:3775479:G:A p.(Arg36His) NC_000001.11:3775479:G:A Identity +NM_014390.4:c.293C>T NP_055205.2:p.Thr98Met NC_000007.14:127694891:C:T p.(Thr98Met) NC_000007.14:127694891:C:T p.(Thr98Met) NC_000007.14:127694891:C:T Identity +NM_001100594.2:c.2209G>A NP_001094064.1:p.Glu737Lys NC_000003.12:43348467:G:A p.(Glu737Lys) NC_000003.12:43348467:G:A p.(Glu737Lys) NC_000003.12:43348467:G:A Identity +NM_005585.5:c.59C>T NP_005576.3:p.Pro20Leu NC_000015.10:66703316:C:T p.(Pro20Leu) NC_000015.10:66703316:C:T p.(Pro20Leu) NC_000015.10:66703316:C:T Identity +NM_001044305.3:c.995C>T NP_001037770.1:p.Thr332Ile NC_000006.12:70857954:C:T p.(Thr332Ile) NC_000006.12:70857954:C:T p.(Thr332Ile) NC_000006.12:70857954:C:T Identity +NM_005631.5:c.782G>A NP_005622.1:p.Arg261His NC_000007.14:129205643:G:A p.(Arg261His) NC_000007.14:129205643:G:A p.(Arg261His) NC_000007.14:129205643:G:A Identity +NM_006714.5:c.19C>T NP_006705.1:p.Leu7Phe NC_000006.12:122789364:C:T p.(Leu7Phe) NC_000006.12:122789364:C:T p.(Leu7Phe) NC_000006.12:122789364:C:T Identity +NM_006062.3:c.265G>A NP_006053.2:p.Gly89Arg NC_000002.12:73220109:G:A p.(Gly89Arg) NC_000002.12:73220109:G:A p.(Gly89Arg) NC_000002.12:73220109:G:A Identity +NM_003076.5:c.226A>G NP_003067.3:p.Met76Val NC_000012.12:50086208:A:G p.(Met76Val) NC_000012.12:50086208:A:G p.(Met76Val) NC_000012.12:50086208:A:G Identity +NM_001291501.2:c.1284A>G NP_001278430.1:p.Ile428Met NC_000022.11:45394737:T:C p.(Ile428Met) NC_000022.11:45394737:T:C p.(Ile428Met) NC_000022.11:45394737:T:C Identity +NM_001318844.2:c.1636A>T NP_001305773.1:p.Ile546Leu NC_000014.9:77718142:T:A p.(Ile546Leu) NC_000014.9:77718142:T:A p.(Ile546Leu) NC_000014.9:77718142:T:A Identity +NM_001317781.2:c.1757T>C NP_001304710.1:p.Ile586Thr NC_000004.12:185346597:T:C p.(Ile586Thr) NC_000004.12:185346597:T:C p.(Ile586Thr) NC_000004.12:185346597:T:C Identity +NM_001322902.2:c.186A>C NP_001309831.1:p.Glu62Asp NC_000020.11:10292903:A:C p.(Glu62Asp) NC_000020.11:10292903:A:C p.(Glu62Asp) NC_000020.11:10292903:A:C Identity +NM_001376705.1:c.1658C>A NP_001363634.1:p.Thr553Asn NC_000006.12:83593509:G:T p.(Thr553Asn) NC_000006.12:83593509:G:T p.(Thr553Asn) NC_000006.12:83593509:G:T Identity +NM_001394201.1:c.2504C>T NP_001381130.1:p.Ser835Phe NC_000009.12:136379859:G:A p.(Ser835Phe) NC_000009.12:136379859:G:A p.(Ser835Phe) NC_000009.12:136379859:G:A Identity +NM_014390.4:c.666G>T NP_055205.2:p.Met222Ile NC_000007.14:127702510:G:T p.(Met222Ile) NC_000007.14:127702510:G:T p.(Met222Ile) NC_000007.14:127702510:G:T Identity +NM_024700.4:c.493C>T NP_078976.2:p.Arg165Trp NC_000001.11:37540589:G:A p.(Arg165Trp) NC_000001.11:37540589:G:A p.(Arg165Trp) NC_000001.11:37540589:G:A Identity +NM_001166412.2:c.1192G>A NP_001159884.1:p.Val398Met NC_000006.12:168653134:G:A p.(Val398Met) NC_000006.12:168653134:G:A p.(Val398Met) NC_000006.12:168653134:G:A Identity +NM_001166412.2:c.722C>T NP_001159884.1:p.Ala241Val NC_000006.12:168598901:C:T p.(Ala241Val) NC_000006.12:168598901:C:T p.(Ala241Val) NC_000006.12:168598901:C:T Identity +NM_001105565.3:c.152G>C NP_001099035.2:p.Gly51Ala NC_000011.10:57542793:G:C p.(Gly51Ala) NC_000011.10:57542793:G:C p.(Gly51Ala) NC_000011.10:57542793:G:C Identity +NM_014598.4:c.461C>G NP_055413.2:p.Pro154Arg NC_000017.11:38352512:C:G p.(Pro154Arg) NC_000017.11:38352512:C:G p.(Pro154Arg) NC_000017.11:38352512:C:G Identity +NM_001101677.2:c.1079A>C NP_001095147.2:p.Glu360Ala NC_000009.12:135693681:T:G p.(Glu360Ala) NC_000009.12:135693681:T:G p.(Glu360Ala) NC_000009.12:135693681:T:G Identity +NM_003105.6:c.2902G>A NP_003096.2:p.Val968Ile NC_000011.10:121558828:G:A p.(Val968Ile) NC_000011.10:121558828:G:A p.(Val968Ile) NC_000011.10:121558828:G:A Identity +NM_001363720.1:c.736C>T NP_001350649.1:p.Leu246Phe NC_000008.11:100588924:G:A p.(Leu246Phe) NC_000008.11:100588924:G:A p.(Leu246Phe) NC_000008.11:100588924:G:A Identity +NM_018968.4:c.1606A>G NP_061841.2:p.Met536Val NC_000002.12:1367459:A:G p.(Met536Val) NC_000002.12:1367459:A:G p.(Met536Val) NC_000002.12:1367459:A:G Identity +NM_001297614.3:c.938C>T NP_001284543.1:p.Ser313Phe NC_000006.12:85547371:G:A p.(Ser313Phe) NC_000006.12:85547371:G:A p.(Ser313Phe) NC_000006.12:85547371:G:A Identity +NM_001102575.2:c.593G>T NP_001096045.1:p.Arg198Leu NC_000005.10:54518544:G:T p.(Arg198Leu) NC_000005.10:54518544:G:T p.(Arg198Leu) NC_000005.10:54518544:G:T Identity +NM_001376490.1:c.507C>G NP_001363419.1:p.Asn169Lys NC_000016.10:12048378:C:G p.(Asn169Lys) NC_000016.10:12048378:C:G p.(Asn169Lys) NC_000016.10:12048378:C:G Identity +NM_001394201.1:c.3040A>G NP_001381130.1:p.Ile1014Val NC_000009.12:136378786:T:C p.(Ile1014Val) NC_000009.12:136378786:T:C p.(Ile1014Val) NC_000009.12:136378786:T:C Identity +NM_001394201.1:c.1108A>G NP_001381130.1:p.Ile370Val NC_000009.12:136388458:T:C p.(Ile370Val) NC_000009.12:136388458:T:C p.(Ile370Val) NC_000009.12:136388458:T:C Identity +NM_004189.4:c.328C>A NP_004180.1:p.Leu110Met NC_000003.12:137765111:C:A p.(Leu110Met) NC_000003.12:137765111:C:A p.(Leu110Met) NC_000003.12:137765111:C:A Identity +NM_006942.2:c.437C>T NP_008873.1:p.Pro146Leu NC_000017.11:7589239:G:A p.(Pro146Leu) NC_000017.11:7589239:G:A p.(Pro146Leu) NC_000017.11:7589239:G:A Identity +NM_018013.4:c.1649A>G NP_060483.3:p.Lys550Arg NC_000006.12:107634492:A:G p.(Lys550Arg) NC_000006.12:107634492:A:G p.(Lys550Arg) NC_000006.12:107634492:A:G Identity +NM_080867.3:c.817T>A NP_543143.1:p.Cys273Ser NC_000014.9:55043857:T:A p.(Cys273Ser) NC_000014.9:55043857:T:A p.(Cys273Ser) NC_000014.9:55043857:T:A Identity +NM_014598.4:c.905C>G NP_055413.2:p.Ser302Cys NC_000017.11:38352956:C:G p.(Ser302Cys) NC_000017.11:38352956:C:G p.(Ser302Cys) NC_000017.11:38352956:C:G Identity +NM_001034954.3:c.2201A>G NP_001030126.2:p.His734Arg NC_000010.11:95354894:T:C p.(His734Arg) NC_000010.11:95354894:T:C p.(His734Arg) NC_000010.11:95354894:T:C Identity +NM_014978.3:c.982C>T NP_055793.1:p.Arg328Trp NC_000010.11:105043081:C:T p.(Arg328Trp) NC_000010.11:105043081:C:T p.(Arg328Trp) NC_000010.11:105043081:C:T Identity +NM_001424413.1:c.144C>G NP_001411342.1:p.Asp48Glu NC_000020.11:33443476:G:C p.(Asp48Glu) NC_000020.11:33443476:G:C p.(Asp48Glu) NC_000020.11:33443476:G:C Identity +NM_001424413.1:c.167C>A NP_001411342.1:p.Pro56Gln NC_000020.11:33443453:G:T p.(Pro56Gln) NC_000020.11:33443453:G:T p.(Pro56Gln) NC_000020.11:33443453:G:T Identity +NM_006750.4:c.302G>A NP_006741.1:p.Arg101Gln NC_000016.10:69187467:G:A p.(Arg101Gln) NC_000016.10:69187467:G:A p.(Arg101Gln) NC_000016.10:69187467:G:A Identity +NM_152760.3:c.185G>A NP_689973.2:p.Arg62Gln NC_000011.10:65849962:G:A p.(Arg62Gln) NC_000011.10:65849962:G:A p.(Arg62Gln) NC_000011.10:65849962:G:A Identity +NM_001308162.3:c.1637T>G NP_001295091.1:p.Phe546Cys NC_000002.12:230402864:T:G p.(Phe546Cys) NC_000002.12:230402864:T:G p.(Phe546Cys) NC_000002.12:230402864:T:G Identity +NM_175873.6:c.260A>C NP_787069.4:p.Glu87Ala NC_000005.10:132813880:A:C p.(Glu87Ala) NC_000005.10:132813880:A:C p.(Glu87Ala) NC_000005.10:132813880:A:C Identity +NM_152760.3:c.263C>A NP_689973.2:p.Ala88Asp NC_000011.10:65850159:C:A p.(Ala88Asp) NC_000011.10:65850159:C:A p.(Ala88Asp) NC_000011.10:65850159:C:A Identity +NM_001012415.3:c.599C>T NP_001012415.3:p.Thr200Met NC_000009.12:135696673:G:A p.(Thr200Met) NC_000009.12:135696673:G:A p.(Thr200Met) NC_000009.12:135696673:G:A Identity +NM_001034954.3:c.2168T>C NP_001030126.2:p.Leu723Ser NC_000010.11:95354927:A:G p.(Leu723Ser) NC_000010.11:95354927:A:G p.(Leu723Ser) NC_000010.11:95354927:A:G Identity +NM_198546.1:c.17C>A NP_940948.1:p.Thr6Asn NC_000001.11:16431354:G:T p.(Thr6Asn) NC_000001.11:16431354:G:T p.(Thr6Asn) NC_000001.11:16431354:G:T Identity +NM_152339.4:c.457C>G NP_689552.2:p.Leu153Val NC_000016.10:89698151:G:C p.(Leu153Val) NC_000016.10:89698151:G:C p.(Leu153Val) NC_000016.10:89698151:G:C Identity +NM_001085452.4:c.1306A>T NP_001078921.3:p.Arg436Trp NC_000009.12:39359070:A:T p.(Arg436Trp) NC_000009.12:39359070:A:T p.(Arg436Trp) NC_000009.12:39359070:A:T Identity +NM_001085452.4:c.1534C>G NP_001078921.3:p.Pro512Ala NC_000009.12:39359298:C:G p.(Pro512Ala) NC_000009.12:39359298:C:G p.(Pro512Ala) NC_000009.12:39359298:C:G Identity +NM_001085452.4:c.481C>A NP_001078921.3:p.His161Asn NC_000009.12:39358245:C:A p.(His161Asn) NC_000009.12:39358245:C:A p.(His161Asn) NC_000009.12:39358245:C:A Identity +NM_001083124.1:c.3379G>A NP_001076593.1:p.Gly1127Arg NC_000009.12:66987118:C:T p.(Gly1127Arg) NC_000009.12:66987118:C:T p.(Gly1127Arg) NC_000009.12:66987118:C:T Identity +NM_206996.4:c.4340C>T NP_996879.1:p.Thr1447Ile NC_000001.11:118012319:G:A p.(Thr1447Ile) NC_000001.11:118012319:G:A p.(Thr1447Ile) NC_000001.11:118012319:G:A Identity +NM_001278451.2:c.1615G>C NP_001265380.1:p.Ala539Pro NC_000002.12:230287941:G:C p.(Ala539Pro) NC_000002.12:230287941:G:C p.(Ala539Pro) NC_000002.12:230287941:G:C Identity +NM_001017371.5:c.1766A>G NP_001017371.3:p.Tyr589Cys NC_000002.12:173913128:T:C p.(Tyr589Cys) NC_000002.12:173913128:T:C p.(Tyr589Cys) NC_000002.12:173913128:T:C Identity +NM_001326542.2:c.2257T>C NP_001313471.1:p.Ser753Pro NC_000007.14:21511221:T:C p.(Ser753Pro) NC_000007.14:21511221:T:C p.(Ser753Pro) NC_000007.14:21511221:T:C Identity +NM_002959.7:c.145C>G NP_002950.3:p.Arg49Gly NC_000001.11:109397747:G:C p.(Arg49Gly) NC_000001.11:109397747:G:C p.(Arg49Gly) NC_000001.11:109397747:G:C Identity +NM_178828.5:c.2365T>C NP_849150.3:p.Trp789Arg NC_000009.12:87886851:T:C p.(Trp789Arg) NC_000009.12:87886851:T:C p.(Trp789Arg) NC_000009.12:87886851:T:C Identity +NM_178828.5:c.1945G>A NP_849150.3:p.Ala649Thr NC_000009.12:87886431:G:A p.(Ala649Thr) NC_000009.12:87886431:G:A p.(Ala649Thr) NC_000009.12:87886431:G:A Identity +NM_001141917.2:c.1486C>G NP_001135389.1:p.Pro496Ala NC_000009.12:34725753:G:C p.(Pro496Ala) NC_000009.12:34725753:G:C p.(Pro496Ala) NC_000009.12:34725753:G:C Identity +NM_001141917.2:c.2792A>C NP_001135389.1:p.Glu931Ala NC_000009.12:34724447:T:G p.(Glu931Ala) NC_000009.12:34724447:T:G p.(Glu931Ala) NC_000009.12:34724447:T:G Identity +NM_001142854.2:c.130G>A NP_001136326.1:p.Gly44Ser NC_000021.9:46182686:C:T p.(Gly44Ser) NC_000021.9:46182686:C:T p.(Gly44Ser) NC_000021.9:46182686:C:T Identity +NM_001258372.2:c.1312G>A NP_001245301.1:p.Ala438Thr NC_000017.11:50550893:G:A p.(Ala438Thr) NC_000017.11:50550893:G:A p.(Ala438Thr) NC_000017.11:50550893:G:A Identity +NM_001145196.1:c.1913C>T NP_001138668.1:p.Pro638Leu NC_000009.12:42187614:C:T p.(Pro638Leu) NC_000009.12:42187614:C:T p.(Pro638Leu) NC_000009.12:42187614:C:T Identity +NM_003110.6:c.453T>G NP_003101.3:p.Asn151Lys NC_000017.11:47916523:T:G p.(Asn151Lys) NC_000017.11:47916523:T:G p.(Asn151Lys) NC_000017.11:47916523:T:G Identity +NM_001326542.2:c.814A>G NP_001313471.1:p.Thr272Ala NC_000007.14:21430029:A:G p.(Thr272Ala) NC_000007.14:21430029:A:G p.(Thr272Ala) NC_000007.14:21430029:A:G Identity +NM_001317225.2:c.103G>A NP_001304154.1:p.Ala35Thr NC_000017.11:32996877:G:A p.(Ala35Thr) NC_000017.11:32996877:G:A p.(Ala35Thr) NC_000017.11:32996877:G:A Identity +NM_031955.6:c.941T>C NP_114161.3:p.Ile314Thr NC_000003.12:172956816:A:G p.(Ile314Thr) NC_000003.12:172956816:A:G p.(Ile314Thr) NC_000003.12:172956816:A:G Identity +NM_001375655.1:c.323G>A NP_001362584.1:p.Arg108Gln NC_000001.11:217683288:G:A p.(Arg108Gln) NC_000001.11:217683288:G:A p.(Arg108Gln) NC_000001.11:217683288:G:A Identity +NM_139073.5:c.520A>G NP_620712.2:p.Ser174Gly NC_000002.12:231002729:A:G p.(Ser174Gly) NC_000002.12:231002729:A:G p.(Ser174Gly) NC_000002.12:231002729:A:G Identity +NM_001145196.1:c.623C>G NP_001138668.1:p.Pro208Arg NC_000009.12:42186324:C:G p.(Pro208Arg) NC_000009.12:42186324:C:G p.(Pro208Arg) NC_000009.12:42186324:C:G Identity +NM_001033553.3:c.1618T>C NP_001028725.1:p.Cys540Arg NC_000017.11:20205666:T:C p.(Cys540Arg) NC_000017.11:20205666:T:C p.(Cys540Arg) NC_000017.11:20205666:T:C Identity +NM_001008778.3:c.427C>T NP_001008778.2:p.Arg143Trp NC_000011.10:65172572:C:T p.(Arg143Trp) NC_000011.10:65172572:C:T p.(Arg143Trp) NC_000011.10:65172572:C:T Identity +NM_001306141.4:c.1028G>A NP_001293070.1:p.Arg343His NC_000007.14:75501633:G:A p.(Arg343His) NC_000007.14:75501633:G:A p.(Arg343His) NC_000007.14:75501633:G:A Identity +NM_001174044.2:c.58G>A NP_001167515.1:p.Val20Ile NC_000007.14:123953627:G:A p.(Val20Ile) NC_000007.14:123953627:G:A p.(Val20Ile) NC_000007.14:123953627:G:A Identity +NM_001145196.1:c.4007A>T NP_001138668.1:p.His1336Leu NC_000009.12:42189708:A:T p.(His1336Leu) NC_000009.12:42189708:A:T p.(His1336Leu) NC_000009.12:42189708:A:T Identity +NM_001145196.1:c.599C>T NP_001138668.1:p.Pro200Leu NC_000009.12:42186300:C:T p.(Pro200Leu) NC_000009.12:42186300:C:T p.(Pro200Leu) NC_000009.12:42186300:C:T Identity +NM_001145196.1:c.173C>T NP_001138668.1:p.Ser58Leu NC_000009.12:42183859:C:T p.(Ser58Leu) NC_000009.12:42183859:C:T p.(Ser58Leu) NC_000009.12:42183859:C:T Identity +NM_015667.2:c.2072G>A NP_056482.2:p.Arg691Gln NC_000009.12:61194157:G:A p.(Arg691Gln) NC_000009.12:61194157:G:A p.(Arg691Gln) NC_000009.12:61194157:G:A Identity +NM_001001670.3:c.3499G>A NP_001001670.1:p.Gly1167Arg NC_000009.12:81993968:G:A p.(Gly1167Arg) NC_000009.12:81993968:G:A p.(Gly1167Arg) NC_000009.12:81993968:G:A Identity +NM_001331078.2:c.955A>G NP_001318007.1:p.Thr319Ala NC_000003.12:113468338:T:C p.(Thr319Ala) NC_000003.12:113468338:T:C p.(Thr319Ala) NC_000003.12:113468338:T:C Identity +NM_001032367.2:c.1406A>G NP_001027539.1:p.Tyr469Cys NC_000015.10:40856838:A:G p.(Tyr469Cys) NC_000015.10:40856838:A:G p.(Tyr469Cys) NC_000015.10:40856838:A:G Identity +NM_001128626.2:c.1948G>A NP_001122098.1:p.Glu650Lys NC_000018.10:12452318:C:T p.(Glu650Lys) NC_000018.10:12452318:C:T p.(Glu650Lys) NC_000018.10:12452318:C:T Identity +NM_032451.2:c.773A>G NP_115827.1:p.Lys258Arg NC_000016.10:89854532:A:G p.(Lys258Arg) NC_000016.10:89854532:A:G p.(Lys258Arg) NC_000016.10:89854532:A:G Identity +NM_001145468.4:c.3155C>G NP_001138940.4:p.Thr1052Arg NC_000022.11:24411654:C:G p.(Thr1052Arg) NC_000022.11:24411654:C:G p.(Thr1052Arg) NC_000022.11:24411654:C:G Identity +NM_001142644.2:c.1144C>A NP_001136116.1:p.Gln382Lys NC_000002.12:228019709:G:T p.(Gln382Lys) NC_000002.12:228019709:G:T p.(Gln382Lys) NC_000002.12:228019709:G:T Identity +NM_001372081.1:c.491G>A NP_001359010.1:p.Cys164Tyr NC_000006.12:44361908:G:A p.(Cys164Tyr) NC_000006.12:44361908:G:A p.(Cys164Tyr) NC_000006.12:44361908:G:A Identity +NM_005876.5:c.7490A>G NP_005867.3:p.Glu2497Gly NC_000002.12:219484952:A:G p.(Glu2497Gly) NC_000002.12:219484952:A:G p.(Glu2497Gly) NC_000002.12:219484952:A:G Identity +NM_182965.3:c.154C>G NP_892010.2:p.Arg52Gly NC_000017.11:76385539:C:G p.(Arg52Gly) NC_000017.11:76385539:C:G p.(Arg52Gly) NC_000017.11:76385539:C:G Identity +NM_001142644.2:c.3197G>A NP_001136116.1:p.Arg1066Gln NC_000002.12:228017656:C:T p.(Arg1066Gln) NC_000002.12:228017656:C:T p.(Arg1066Gln) NC_000002.12:228017656:C:T Identity +NM_001142644.2:c.3397A>G NP_001136116.1:p.Met1133Val NC_000002.12:228017456:T:C p.(Met1133Val) NC_000002.12:228017456:T:C p.(Met1133Val) NC_000002.12:228017456:T:C Identity +NM_032018.7:c.1456G>A NP_114407.3:p.Glu486Lys NC_000001.11:231353346:G:A p.(Glu486Lys) NC_000001.11:231353346:G:A p.(Glu486Lys) NC_000001.11:231353346:G:A Identity +NM_003126.4:c.1718C>T NP_003117.2:p.Thr573Ile NC_000001.11:158669522:G:A p.(Thr573Ile) NC_000001.11:158669522:G:A p.(Thr573Ile) NC_000001.11:158669522:G:A Identity +NM_001024858.4:c.5081A>G NP_001020029.1:p.Gln1694Arg NC_000014.9:64773316:T:C p.(Gln1694Arg) NC_000014.9:64773316:T:C p.(Gln1694Arg) NC_000014.9:64773316:T:C Identity +NM_001024858.4:c.3247G>A NP_001020029.1:p.Ala1083Thr NC_000014.9:64786717:C:T p.(Ala1083Thr) NC_000014.9:64786717:C:T p.(Ala1083Thr) NC_000014.9:64786717:C:T Identity +NM_003128.3:c.2878T>C NP_003119.2:p.Tyr960His NC_000002.12:54630924:T:C p.(Tyr960His) NC_000002.12:54630924:T:C p.(Tyr960His) NC_000002.12:54630924:T:C Identity +NM_001030288.4:c.943G>A NP_001025459.1:p.Val315Met NC_000016.10:29664670:G:A p.(Val315Met) NC_000016.10:29664670:G:A p.(Val315Met) NC_000016.10:29664670:G:A Identity +NM_001128325.3:c.59C>T NP_001121797.2:p.Ala20Val NC_000004.12:1172012:G:A p.(Ala20Val) NC_000004.12:1172012:G:A p.(Ala20Val) NC_000004.12:1172012:G:A Identity +NM_000582.3:c.21C>G NP_000573.1:p.Cys7Trp NC_000004.12:87976915:C:G p.(Cys7Trp) NC_000004.12:87976915:C:G p.(Cys7Trp) NC_000004.12:87976915:C:G Identity +NM_175882.3:c.11T>G NP_787078.2:p.Leu4Arg NC_000017.11:45844916:T:G p.(Leu4Arg) NC_000017.11:45844916:T:G p.(Leu4Arg) NC_000017.11:45844916:T:G Identity +NM_001006681.2:c.197C>T NP_001006682.1:p.Thr66Met NC_000023.11:57120432:G:A p.(Thr66Met) NC_000023.11:57120432:G:A p.(Thr66Met) NC_000023.11:57120432:G:A Identity +NM_016642.4:c.7109C>T NP_057726.4:p.Ser2370Phe NC_000015.10:41863743:G:A p.(Ser2370Phe) NC_000015.10:41863743:G:A p.(Ser2370Phe) NC_000015.10:41863743:G:A Identity +NM_194285.3:c.1019A>G NP_919261.2:p.Lys340Arg NC_000011.10:18615254:T:C p.(Lys340Arg) NC_000011.10:18615254:T:C p.(Lys340Arg) NC_000011.10:18615254:T:C Identity +NM_001128210.2:c.467G>A NP_001121682.1:p.Arg156Lys NC_000002.12:65316845:C:T p.(Arg156Lys) NC_000002.12:65316845:C:T p.(Arg156Lys) NC_000002.12:65316845:C:T Identity +NM_003126.4:c.4515C>A NP_003117.2:p.Phe1505Leu NC_000001.11:158642903:G:T p.(Phe1505Leu) NC_000001.11:158642903:G:T p.(Phe1505Leu) NC_000001.11:158642903:G:T Identity +NM_001331078.2:c.577T>G NP_001318007.1:p.Ser193Ala NC_000003.12:113488978:A:C p.(Ser193Ala) NC_000003.12:113488978:A:C p.(Ser193Ala) NC_000003.12:113488978:A:C Identity +NM_032451.2:c.1310G>A NP_115827.1:p.Arg437Gln NC_000016.10:89859201:G:A p.(Arg437Gln) NC_000016.10:89859201:G:A p.(Arg437Gln) NC_000016.10:89859201:G:A Identity +NM_001349945.2:c.676G>A NP_001336874.1:p.Val226Ile NC_000020.11:13091150:G:A p.(Val226Ile) NC_000020.11:13091150:G:A p.(Val226Ile) NC_000020.11:13091150:G:A Identity +NM_016642.4:c.572C>T NP_057726.4:p.Thr191Ile NC_000015.10:41888014:G:A p.(Thr191Ile) NC_000015.10:41888014:G:A p.(Thr191Ile) NC_000015.10:41888014:G:A Identity +NM_016642.4:c.1800C>G NP_057726.4:p.Asp600Glu NC_000015.10:41883087:G:C p.(Asp600Glu) NC_000015.10:41883087:G:C p.(Asp600Glu) NC_000015.10:41883087:G:C Identity +NM_018079.5:c.274G>A NP_060549.4:p.Ala92Thr NC_000002.12:45599822:C:T p.(Ala92Thr) NC_000002.12:45599822:C:T p.(Ala92Thr) NC_000002.12:45599822:C:T Identity +NM_006662.3:c.1528G>A NP_006653.2:p.Glu510Lys NC_000016.10:30711869:G:A p.(Glu510Lys) NC_000016.10:30711869:G:A p.(Glu510Lys) NC_000016.10:30711869:G:A Identity +NM_025248.3:c.2239G>A NP_079524.2:p.Val747Met NC_000017.11:38552817:C:T p.(Val747Met) NC_000017.11:38552817:C:T p.(Val747Met) NC_000017.11:38552817:C:T Identity +NM_003126.4:c.1496T>G NP_003117.2:p.Leu499Arg NC_000001.11:158671445:A:C p.(Leu499Arg) NC_000001.11:158671445:A:C p.(Leu499Arg) NC_000001.11:158671445:A:C Identity +NM_001024858.4:c.2837G>A NP_001020029.1:p.Arg946Gln NC_000014.9:64787127:C:T p.(Arg946Gln) NC_000014.9:64787127:C:T p.(Arg946Gln) NC_000014.9:64787127:C:T Identity +NM_006662.3:c.4447G>A NP_006653.2:p.Val1483Ile NC_000016.10:30723870:G:A p.(Val1483Ile) NC_000016.10:30723870:G:A p.(Val1483Ile) NC_000016.10:30723870:G:A Identity +NM_020971.3:c.5905G>A NP_066022.2:p.Asp1969Asn NC_000019.10:40560392:G:A p.(Asp1969Asn) NC_000019.10:40560392:G:A p.(Asp1969Asn) NC_000019.10:40560392:G:A Identity +NM_001281303.2:c.679G>A NP_001268232.1:p.Glu227Lys NC_000009.12:92059189:C:T p.(Glu227Lys) NC_000009.12:92059189:C:T p.(Glu227Lys) NC_000009.12:92059189:C:T Identity +NM_001260502.2:c.1298A>G NP_001247431.1:p.Gln433Arg NC_000017.11:76043940:T:C p.(Gln433Arg) NC_000017.11:76043940:T:C p.(Gln433Arg) NC_000017.11:76043940:T:C Identity +NM_025248.3:c.2668C>T NP_079524.2:p.Pro890Ser NC_000017.11:38551944:G:A p.(Pro890Ser) NC_000017.11:38551944:G:A p.(Pro890Ser) NC_000017.11:38551944:G:A Identity +NM_001033117.3:c.1058C>T NP_001028289.1:p.Thr353Ile NC_000003.12:9056299:G:A p.(Thr353Ile) NC_000003.12:9056299:G:A p.(Thr353Ile) NC_000003.12:9056299:G:A Identity +NM_001098814.2:c.1199C>T NP_001092284.1:p.Ala400Val NC_000016.10:4192375:G:A p.(Ala400Val) NC_000016.10:4192375:G:A p.(Ala400Val) NC_000016.10:4192375:G:A Identity +NM_080823.4:c.1090T>C NP_543013.1:p.Cys364Arg NC_000020.11:63541476:A:G p.(Cys364Arg) NC_000020.11:63541476:A:G p.(Cys364Arg) NC_000020.11:63541476:A:G Identity +NM_016333.4:c.868G>A NP_057417.3:p.Ala290Thr NC_000016.10:2760334:G:A p.(Ala290Thr) NC_000016.10:2760334:G:A p.(Ala290Thr) NC_000016.10:2760334:G:A Identity +NM_016333.4:c.454G>A NP_057417.3:p.Asp152Asn NC_000016.10:2757883:G:A p.(Asp152Asn) NC_000016.10:2757883:G:A p.(Asp152Asn) NC_000016.10:2757883:G:A Identity +NM_001303448.2:c.1802G>A NP_001290377.1:p.Arg601His NC_000001.11:24669148:G:A p.(Arg601His) NC_000001.11:24669148:G:A p.(Arg601His) NC_000001.11:24669148:G:A Identity +NM_016333.4:c.4904G>A NP_057417.3:p.Arg1635Gln NC_000016.10:2765431:G:A p.(Arg1635Gln) NC_000016.10:2765431:G:A p.(Arg1635Gln) NC_000016.10:2765431:G:A Identity +NM_016333.4:c.3074T>C NP_057417.3:p.Leu1025Pro NC_000016.10:2763601:T:C p.(Leu1025Pro) NC_000016.10:2763601:T:C p.(Leu1025Pro) NC_000016.10:2763601:T:C Identity +NM_207365.4:c.337G>A NP_997248.2:p.Gly113Ser NC_000003.12:151740843:G:A p.(Gly113Ser) NC_000003.12:151740843:G:A p.(Gly113Ser) NC_000003.12:151740843:G:A Identity +NM_000051.4:c.2867G>T NP_000042.3:p.Gly956Val NC_000011.10:108271091:G:T p.(Gly956Val) NC_000011.10:108271091:G:T p.(Gly956Val) NC_000011.10:108271091:G:T Identity +NM_001050.3:c.733T>C NP_001041.1:p.Ser245Pro NC_000017.11:73170051:T:C p.(Ser245Pro) NC_000017.11:73170051:T:C p.(Ser245Pro) NC_000017.11:73170051:T:C Identity +NM_001053.4:c.505T>C NP_001044.1:p.Cys169Arg NC_000016.10:1079372:T:C p.(Cys169Arg) NC_000016.10:1079372:T:C p.(Cys169Arg) NC_000016.10:1079372:T:C Identity +NM_015136.3:c.7451T>C NP_055951.2:p.Leu2484Pro NC_000003.12:52523925:T:C p.(Leu2484Pro) NC_000003.12:52523925:T:C p.(Leu2484Pro) NC_000003.12:52523925:T:C Identity +NM_001144950.2:c.249G>T NP_001138422.1:p.Trp83Cys NC_000019.10:55489549:G:T p.(Trp83Cys) NC_000019.10:55489549:G:T p.(Trp83Cys) NC_000019.10:55489549:G:T Identity +NM_021015.4:c.458C>T NP_066295.3:p.Thr153Met NC_000023.11:48190263:G:A p.(Thr153Met) NC_000023.11:48190263:G:A p.(Thr153Met) NC_000023.11:48190263:G:A Identity +NM_001352826.2:c.52G>A NP_001339755.1:p.Glu18Lys NC_000008.11:52214205:C:T p.(Glu18Lys) NC_000008.11:52214205:C:T p.(Glu18Lys) NC_000008.11:52214205:C:T Identity +NM_005668.6:c.743A>C NP_005659.1:p.Lys248Thr NC_000005.10:100856156:T:G p.(Lys248Thr) NC_000005.10:100856156:T:G p.(Lys248Thr) NC_000005.10:100856156:T:G Identity +NM_020759.3:c.3131A>T NP_065810.2:p.His1044Leu NC_000015.10:42684708:A:T p.(His1044Leu) NC_000015.10:42684708:A:T p.(His1044Leu) NC_000015.10:42684708:A:T Identity +NM_001178078.2:c.61G>A NP_001171549.1:p.Asp21Asn NC_000012.12:57108217:C:T p.(Asp21Asn) NC_000012.12:57108217:C:T p.(Asp21Asn) NC_000012.12:57108217:C:T Identity +NM_017564.10:c.6172C>T NP_060034.9:p.His2058Tyr NC_000012.12:103746631:C:T p.(His2058Tyr) NC_000012.12:103746631:C:T p.(His2058Tyr) NC_000012.12:103746631:C:T Identity +NM_017564.10:c.6049C>T NP_060034.9:p.His2017Tyr NC_000012.12:103745189:C:T p.(His2017Tyr) NC_000012.12:103745189:C:T p.(His2017Tyr) NC_000012.12:103745189:C:T Identity +NM_001037328.3:c.62C>T NP_001032405.1:p.Thr21Ile NC_000020.11:49153971:G:A p.(Thr21Ile) NC_000020.11:49153971:G:A p.(Thr21Ile) NC_000020.11:49153971:G:A Identity +NM_001282652.2:c.1070A>G NP_001269581.1:p.Tyr357Cys NC_000011.10:64197879:A:G p.(Tyr357Cys) NC_000011.10:64197879:A:G p.(Tyr357Cys) NC_000011.10:64197879:A:G Identity +NM_001271142.2:c.161A>G NP_001258071.1:p.Asp54Gly NC_000003.12:98785027:A:G p.(Asp54Gly) NC_000003.12:98785027:A:G p.(Asp54Gly) NC_000003.12:98785027:A:G Identity +NM_001304450.2:c.91T>C NP_001291379.1:p.Tyr31His NC_000012.12:22249069:A:G p.(Tyr31His) NC_000012.12:22249069:A:G p.(Tyr31His) NC_000012.12:22249069:A:G Identity +NM_003034.4:c.230C>T NP_003025.1:p.Ala77Val NC_000012.12:22334002:G:A p.(Ala77Val) NC_000012.12:22334002:G:A p.(Ala77Val) NC_000012.12:22334002:G:A Identity +NM_020759.3:c.3388A>G NP_065810.2:p.Lys1130Glu NC_000015.10:42684965:A:G p.(Lys1130Glu) NC_000015.10:42684965:A:G p.(Lys1130Glu) NC_000015.10:42684965:A:G Identity +NM_020759.3:c.8399T>C NP_065810.2:p.Leu2800Ser NC_000015.10:42689976:T:C p.(Leu2800Ser) NC_000015.10:42689976:T:C p.(Leu2800Ser) NC_000015.10:42689976:T:C Identity +NM_020759.3:c.6341C>T NP_065810.2:p.Pro2114Leu NC_000015.10:42687918:C:T p.(Pro2114Leu) NC_000015.10:42687918:C:T p.(Pro2114Leu) NC_000015.10:42687918:C:T Identity +NM_020759.3:c.1699A>T NP_065810.2:p.Thr567Ser NC_000015.10:42675674:A:T p.(Thr567Ser) NC_000015.10:42675674:A:T p.(Thr567Ser) NC_000015.10:42675674:A:T Identity +NM_001178078.2:c.1502A>G NP_001171549.1:p.Gln501Arg NC_000012.12:57102299:T:C p.(Gln501Arg) NC_000012.12:57102299:T:C p.(Gln501Arg) NC_000012.12:57102299:T:C Identity +NM_005990.4:c.668T>C NP_005981.3:p.Leu223Pro NC_000005.10:172106739:A:G p.(Leu223Pro) NC_000005.10:172106739:A:G p.(Leu223Pro) NC_000005.10:172106739:A:G Identity +NM_003849.4:c.23C>T NP_003840.2:p.Ala8Val NC_000002.12:84459246:G:A p.(Ala8Val) NC_000002.12:84459246:G:A p.(Ala8Val) NC_000002.12:84459246:G:A Identity +NM_001193311.2:c.1213G>A NP_001180240.2:p.Gly405Arg NC_000007.14:40749478:G:A p.(Gly405Arg) NC_000007.14:40749478:G:A p.(Gly405Arg) NC_000007.14:40749478:G:A Identity +NM_001193311.2:c.952A>G NP_001180240.2:p.Asn318Asp NC_000007.14:40459163:A:G p.(Asn318Asp) NC_000007.14:40459163:A:G p.(Asn318Asp) NC_000007.14:40459163:A:G Identity +NM_001164460.2:c.488A>G NP_001157932.1:p.Gln163Arg NC_000007.14:22493432:T:C p.(Gln163Arg) NC_000007.14:22493432:T:C p.(Gln163Arg) NC_000007.14:22493432:T:C Identity +NM_001048166.1:c.439A>C NP_001041631.1:p.Ser147Arg NC_000001.11:47301574:T:G p.(Ser147Arg) NC_000001.11:47301574:T:G p.(Ser147Arg) NC_000001.11:47301574:T:G Identity +NM_000455.5:c.487G>A NP_000446.1:p.Gly163Ser NC_000019.10:1220394:G:A p.(Gly163Ser) NC_000019.10:1220394:G:A p.(Gly163Ser) NC_000019.10:1220394:G:A Identity +NM_052902.4:c.2356C>T NP_443134.3:p.Arg786Cys NC_000002.12:219611974:C:T p.(Arg786Cys) NC_000002.12:219611974:C:T p.(Arg786Cys) NC_000002.12:219611974:C:T Identity +NM_001001433.3:c.713G>A NP_001001433.1:p.Arg238Gln NC_000020.11:58671217:G:A p.(Arg238Gln) NC_000020.11:58671217:G:A p.(Arg238Gln) NC_000020.11:58671217:G:A Identity +NM_001320755.2:c.4459G>T NP_001307684.1:p.Val1487Leu NC_000017.11:28699790:G:T p.(Val1487Leu) NC_000017.11:28699790:G:T p.(Val1487Leu) NC_000017.11:28699790:G:T Identity +NM_001320755.2:c.2424C>A NP_001307684.1:p.Phe808Leu NC_000017.11:28684897:C:A p.(Phe808Leu) NC_000017.11:28684897:C:A p.(Phe808Leu) NC_000017.11:28684897:C:A Identity +NM_019601.4:c.986C>T NP_062547.1:p.Thr329Met NC_000022.11:24185486:C:T p.(Thr329Met) NC_000022.11:24185486:C:T p.(Thr329Met) NC_000022.11:24185486:C:T Identity +NM_015551.2:c.1267A>C NP_056366.1:p.Ser423Arg NC_000003.12:33153364:T:G p.(Ser423Arg) NC_000003.12:33153364:T:G p.(Ser423Arg) NC_000003.12:33153364:T:G Identity +NM_153366.4:c.3023A>G NP_699197.3:p.Tyr1008Cys NC_000009.12:110469076:T:C p.(Tyr1008Cys) NC_000009.12:110469076:T:C p.(Tyr1008Cys) NC_000009.12:110469076:T:C Identity +NM_001080426.3:c.1933A>T NP_001073895.1:p.Ser645Cys NC_000001.11:167127063:A:T p.(Ser645Cys) NC_000001.11:167127063:A:T p.(Ser645Cys) NC_000001.11:167127063:A:T Identity +NM_000051.4:c.568A>C NP_000042.3:p.Ile190Leu NC_000011.10:108244023:A:C p.(Ile190Leu) NC_000011.10:108244023:A:C p.(Ile190Leu) NC_000011.10:108244023:A:C Identity +NM_001128204.2:c.2215T>A NP_001121676.1:p.Cys739Ser NC_000008.11:69629609:T:A p.(Cys739Ser) NC_000008.11:69629609:T:A p.(Cys739Ser) NC_000008.11:69629609:T:A Identity +NM_001032377.2:c.451T>C NP_001027549.1:p.Trp151Arg NC_000002.12:37175190:A:G p.(Trp151Arg) NC_000002.12:37175190:A:G p.(Trp151Arg) NC_000002.12:37175190:A:G Identity +NM_001199579.2:c.2033A>G NP_001186508.1:p.Gln678Arg NC_000022.11:38738242:T:C p.(Gln678Arg) NC_000022.11:38738242:T:C p.(Gln678Arg) NC_000022.11:38738242:T:C Identity +NM_001410929.1:c.1139C>T NP_001397858.1:p.Thr380Met NC_000001.11:223227731:G:A p.(Thr380Met) NC_000001.11:223227731:G:A p.(Thr380Met) NC_000001.11:223227731:G:A Identity +NM_001297716.2:c.1226G>A NP_001284645.1:p.Arg409Gln NC_000005.10:76291308:G:A p.(Arg409Gln) NC_000005.10:76291308:G:A p.(Arg409Gln) NC_000005.10:76291308:G:A Identity +NM_001323599.2:c.605T>C NP_001310528.1:p.Ile202Thr NC_000010.11:29550818:A:G p.(Ile202Thr) NC_000010.11:29550818:A:G p.(Ile202Thr) NC_000010.11:29550818:A:G Identity +NM_000051.4:c.118_125del NP_000042.3:p.Ile40fs NC_000011.10:108227815:AAACAATTAAACA:AAACA p.(Ile40SerfsTer20) NC_000011.10:108227815:AAACAATTAAACA:AAACA p.(Ile40SerfsTer20) NC_000011.10:108227820:ATTAAACA: Analogous +NM_015180.6:c.2243T>A NP_055995.4:p.Ile748Asn NC_000014.9:63986546:T:A p.(Ile748Asn) NC_000014.9:63986546:T:A p.(Ile748Asn) NC_000014.9:63986546:T:A Identity +NM_001363692.2:c.2684C>T NP_001350621.1:p.Ser895Phe NC_000014.9:95432106:G:A p.(Ser895Phe) NC_000014.9:95432106:G:A p.(Ser895Phe) NC_000014.9:95432106:G:A Identity +NM_001178088.2:c.554G>A NP_001171559.1:p.Arg185His NC_000006.12:158064655:G:A p.(Arg185His) NC_000006.12:158064655:G:A p.(Arg185His) NC_000006.12:158064655:G:A Identity +NM_153366.4:c.6565A>G NP_699197.3:p.Thr2189Ala NC_000009.12:110411145:T:C p.(Thr2189Ala) NC_000009.12:110411145:T:C p.(Thr2189Ala) NC_000009.12:110411145:T:C Identity +NM_001105518.2:c.404T>C NP_001098988.1:p.Ile135Thr NC_000001.11:185174550:T:C p.(Ile135Thr) NC_000001.11:185174550:T:C p.(Ile135Thr) NC_000001.11:185174550:T:C Identity +NM_001300910.2:c.291G>C NP_001287839.1:p.Arg97Ser NC_000019.10:15109764:G:C p.(Arg97Ser) NC_000019.10:15109764:G:C p.(Arg97Ser) NC_000019.10:15109764:G:C Identity +NM_001163544.3:c.13C>G NP_001157016.1:p.Pro5Ala NC_000017.11:37609342:G:C p.(Pro5Ala) NC_000017.11:37609342:G:C p.(Pro5Ala) NC_000017.11:37609342:G:C Identity +NM_031912.5:c.1250G>A NP_114118.2:p.Arg417His NC_000010.11:46587630:G:A p.(Arg417His) NC_000010.11:46587630:G:A p.(Arg417His) NC_000010.11:46587630:G:A Identity +NM_001394447.1:c.3928C>T NP_001381376.1:p.Pro1310Ser NC_000011.10:85725426:G:A p.(Pro1310Ser) NC_000011.10:85725426:G:A p.(Pro1310Ser) NC_000011.10:85725426:G:A Identity +NM_012451.4:c.172A>G NP_036583.2:p.Ile58Val NC_000019.10:48373594:A:G p.(Ile58Val) NC_000019.10:48373594:A:G p.(Ile58Val) NC_000019.10:48373594:A:G Identity +NM_145804.3:c.152G>A NP_665803.2:p.Gly51Glu NC_000011.10:34357431:C:T p.(Gly51Glu) NC_000011.10:34357431:C:T p.(Gly51Glu) NC_000011.10:34357431:C:T Identity +NM_000051.4:c.1406_1428del NP_000042.3:p.Arg469fs NC_000011.10:108250869:AGGTCAAACCTAGAAAGCTCACAA:A p.(Arg469LysfsTer10) NC_000011.10:108250869:AGGTCAAACCTAGAAAGCTCACAA:A p.(Arg469LysfsTer10) NC_000011.10:108250870:GGTCAAACCTAGAAAGCTCACAA: Analogous +NM_001135052.4:c.1124C>A NP_001128524.1:p.Thr375Asn NC_000009.12:90877581:C:A p.(Thr375Asn) NC_000009.12:90877581:C:A p.(Thr375Asn) NC_000009.12:90877581:C:A Identity +NM_004819.3:c.445G>A NP_004810.2:p.Val149Ile NC_000019.10:45847982:C:T p.(Val149Ile) NC_000019.10:45847982:C:T p.(Val149Ile) NC_000019.10:45847982:C:T Identity +NM_020783.4:c.1053T>G NP_065834.1:p.Asn351Lys NC_000018.10:43270565:A:C p.(Asn351Lys) NC_000018.10:43270565:A:C p.(Asn351Lys) NC_000018.10:43270565:A:C Identity +NM_175733.4:c.1030G>A NP_783860.1:p.Glu344Lys NC_000011.10:7313926:G:A p.(Glu344Lys) NC_000011.10:7313926:G:A p.(Glu344Lys) NC_000011.10:7313926:G:A Identity +NM_001394447.1:c.4369G>C NP_001381376.1:p.Asp1457His NC_000011.10:85724985:C:G p.(Asp1457His) NC_000011.10:85724985:C:G p.(Asp1457His) NC_000011.10:85724985:C:G Identity +NM_015180.6:c.14893C>G NP_055995.4:p.His4965Asp NC_000014.9:64139989:C:G p.(His4965Asp) NC_000014.9:64139989:C:G p.(His4965Asp) NC_000014.9:64139989:C:G Identity +NM_000051.4:c.983G>T NP_000042.3:p.Ser328Ile NC_000011.10:108247044:G:T p.(Ser328Ile) NC_000011.10:108247044:G:T p.(Ser328Ile) NC_000011.10:108247044:G:T Identity +NM_024928.5:c.595C>G NP_079204.2:p.Leu199Val NC_000010.11:103897705:G:C p.(Leu199Val) NC_000010.11:103897705:G:C p.(Leu199Val) NC_000010.11:103897705:G:C Identity +NM_001144033.2:c.322G>A NP_001137505.1:p.Gly108Arg NC_000013.11:38970351:C:T p.(Gly108Arg) NC_000013.11:38970351:C:T p.(Gly108Arg) NC_000013.11:38970351:C:T Identity +NM_001198595.2:c.2179G>A NP_001185524.1:p.Asp727Asn NC_000002.12:48595272:G:A p.(Asp727Asn) NC_000002.12:48595272:G:A p.(Asp727Asn) NC_000002.12:48595272:G:A Identity +NM_153700.2:c.3833T>C NP_714544.1:p.Met1278Thr NC_000015.10:43605360:A:G p.(Met1278Thr) NC_000015.10:43605360:A:G p.(Met1278Thr) NC_000015.10:43605360:A:G Identity +NM_153700.2:c.4724T>G NP_714544.1:p.Phe1575Cys NC_000015.10:43600991:A:C p.(Phe1575Cys) NC_000015.10:43600991:A:C p.(Phe1575Cys) NC_000015.10:43600991:A:C Identity +NM_001270768.2:c.1994G>A NP_001257697.1:p.Arg665Gln NC_000001.11:110053676:G:A p.(Arg665Gln) NC_000001.11:110053676:G:A p.(Arg665Gln) NC_000001.11:110053676:G:A Identity +NM_001166105.3:c.585T>A NP_001159577.2:p.Asp195Glu NC_000017.11:37444748:T:A p.(Asp195Glu) NC_000017.11:37444748:T:A p.(Asp195Glu) NC_000017.11:37444748:T:A Identity +NM_000051.4:c.3005G>C NP_000042.3:p.Gly1002Ala NC_000011.10:108271333:G:C p.(Gly1002Ala) NC_000011.10:108271333:G:C p.(Gly1002Ala) NC_000011.10:108271333:G:C Identity +NM_001308157.2:c.734G>T NP_001295086.1:p.Arg245Leu NC_000016.10:19183941:G:T p.(Arg245Leu) NC_000016.10:19183941:G:T p.(Arg245Leu) NC_000016.10:19183941:G:T Identity +NM_001297774.2:c.812C>T NP_001284703.1:p.Ser271Leu NC_000019.10:55174883:G:A p.(Ser271Leu) NC_000019.10:55174883:G:A p.(Ser271Leu) NC_000019.10:55174883:G:A Identity +NM_001162951.4:c.2128A>G NP_001156423.1:p.Lys710Glu NC_000011.10:85705003:T:C p.(Lys710Glu) NC_000011.10:85705003:T:C p.(Lys710Glu) NC_000011.10:85705003:T:C Identity +NM_001394447.1:c.3976C>T NP_001381376.1:p.Pro1326Ser NC_000011.10:85725378:G:A p.(Pro1326Ser) NC_000011.10:85725378:G:A p.(Pro1326Ser) NC_000011.10:85725378:G:A Identity +NM_033050.6:c.841C>T NP_149039.2:p.Arg281Trp NC_000003.12:151881383:C:T p.(Arg281Trp) NC_000003.12:151881383:C:T p.(Arg281Trp) NC_000003.12:151881383:C:T Identity +NM_001193311.2:c.222A>T NP_001180240.2:p.Arg74Ser NC_000007.14:40182023:A:T p.(Arg74Ser) NC_000007.14:40182023:A:T p.(Arg74Ser) NC_000007.14:40182023:A:T Identity +NM_006755.2:c.937C>T NP_006746.1:p.Arg313Cys NC_000011.10:764388:C:T p.(Arg313Cys) NC_000011.10:764388:C:T p.(Arg313Cys) NC_000011.10:764388:C:T Identity +NM_024562.2:c.2275G>A NP_078838.1:p.Val759Ile NC_000016.10:68927714:G:A p.(Val759Ile) NC_000016.10:68927714:G:A p.(Val759Ile) NC_000016.10:68927714:G:A Identity +NM_024562.2:c.1697A>G NP_078838.1:p.Gln566Arg NC_000016.10:68907471:A:G p.(Gln566Arg) NC_000016.10:68907471:A:G p.(Gln566Arg) NC_000016.10:68907471:A:G Identity +NM_020791.4:c.2698T>C NP_065842.1:p.Phe900Leu NC_000017.11:29542713:T:C p.(Phe900Leu) NC_000017.11:29542713:T:C p.(Phe900Leu) NC_000017.11:29542713:T:C Identity +NM_001252043.2:c.622G>A NP_001238972.1:p.Val208Ile NC_000016.10:29979474:G:A p.(Val208Ile) NC_000016.10:29979474:G:A p.(Val208Ile) NC_000016.10:29979474:G:A Identity +NM_001057.3:c.193C>T NP_001048.2:p.Arg65Cys NC_000010.11:69416130:G:A p.(Arg65Cys) NC_000010.11:69416130:G:A p.(Arg65Cys) NC_000010.11:69416130:G:A Identity +NM_001057.3:c.1147T>C NP_001048.2:p.Trp383Arg NC_000010.11:69404875:A:G p.(Trp383Arg) NC_000010.11:69404875:A:G p.(Trp383Arg) NC_000010.11:69404875:A:G Identity +NM_153809.2:c.1262T>A NP_722516.1:p.Phe421Tyr NC_000009.12:32634317:A:T p.(Phe421Tyr) NC_000009.12:32634317:A:T p.(Phe421Tyr) NC_000009.12:32634317:A:T Identity +NM_006473.4:c.1643A>C NP_006464.1:p.Gln548Pro NC_000011.10:62787069:A:C p.(Gln548Pro) NC_000011.10:62787069:A:C p.(Gln548Pro) NC_000011.10:62787069:A:C Identity +NM_138697.4:c.1699T>G NP_619642.2:p.Ser567Ala NC_000001.11:6578756:T:G p.(Ser567Ala) NC_000001.11:6578756:T:G p.(Ser567Ala) NC_000001.11:6578756:T:G Identity +NM_001054.4:c.223A>G NP_001045.2:p.Ile75Val NC_000016.10:28595600:T:C p.(Ile75Val) NC_000016.10:28595600:T:C p.(Ile75Val) NC_000016.10:28595600:T:C Identity +NM_001321770.2:c.217G>A NP_001308699.1:p.Asp73Asn NC_000002.12:108381808:G:A p.(Asp73Asn) NC_000002.12:108381808:G:A p.(Asp73Asn) NC_000002.12:108381808:G:A Identity +NM_001164674.2:c.347C>G NP_001158146.1:p.Ala116Gly NC_000003.12:4452972:G:C p.(Ala116Gly) NC_000003.12:4452972:G:C p.(Ala116Gly) NC_000003.12:4452972:G:C Identity +NM_000051.4:c.3605G>A NP_000042.3:p.Gly1202Glu NC_000011.10:108282737:G:A p.(Gly1202Glu) NC_000011.10:108282737:G:A p.(Gly1202Glu) NC_000011.10:108282737:G:A Identity +NM_153809.2:c.3002A>G NP_722516.1:p.Gln1001Arg NC_000009.12:32632577:T:C p.(Gln1001Arg) NC_000009.12:32632577:T:C p.(Gln1001Arg) NC_000009.12:32632577:T:C Identity +NM_153809.2:c.3136G>A NP_722516.1:p.Asp1046Asn NC_000009.12:32632443:C:T p.(Asp1046Asn) NC_000009.12:32632443:C:T p.(Asp1046Asn) NC_000009.12:32632443:C:T Identity +NM_001001522.2:c.227C>T NP_001001522.1:p.Pro76Leu NC_000011.10:117203352:C:T p.(Pro76Leu) NC_000011.10:117203352:C:T p.(Pro76Leu) NC_000011.10:117203352:C:T Identity +NM_001350062.2:c.3907C>T NP_001336991.1:p.Pro1303Ser NC_000002.12:159229935:C:T p.(Pro1303Ser) NC_000002.12:159229935:C:T p.(Pro1303Ser) NC_000002.12:159229935:C:T Identity +NM_153365.3:c.590A>G NP_699196.2:p.Tyr197Cys NC_000004.12:16191382:T:C p.(Tyr197Cys) NC_000004.12:16191382:T:C p.(Tyr197Cys) NC_000004.12:16191382:T:C Identity +NM_005646.4:c.785G>C NP_005637.3:p.Cys262Ser NC_000001.11:234478318:C:G p.(Cys262Ser) NC_000001.11:234478318:C:G p.(Cys262Ser) NC_000001.11:234478318:C:G Identity +NM_001301683.2:c.1225T>C NP_001288612.1:p.Ser409Pro NC_000010.11:69202884:T:C p.(Ser409Pro) NC_000010.11:69202884:T:C p.(Ser409Pro) NC_000010.11:69202884:T:C Identity +NM_015551.2:c.1309C>T NP_056366.1:p.Leu437Phe NC_000003.12:33153322:G:A p.(Leu437Phe) NC_000003.12:33153322:G:A p.(Leu437Phe) NC_000003.12:33153322:G:A Identity +NM_001323599.2:c.1253G>A NP_001310528.1:p.Arg418His NC_000010.11:29529767:C:T p.(Arg418His) NC_000010.11:29529767:C:T p.(Arg418His) NC_000010.11:29529767:C:T Identity +NM_001323599.2:c.1754G>A NP_001310528.1:p.Arg585His NC_000010.11:29523929:C:T p.(Arg585His) NC_000010.11:29523929:C:T p.(Arg585His) NC_000010.11:29523929:C:T Identity +NM_001199135.3:c.1088G>A NP_001186064.1:p.Arg363Gln NC_000002.12:161231537:G:A p.(Arg363Gln) NC_000002.12:161231537:G:A p.(Arg363Gln) NC_000002.12:161231537:G:A Identity +NM_001346487.2:c.946A>T NP_001333416.1:p.Thr316Ser NC_000012.12:118201336:T:A p.(Thr316Ser) NC_000012.12:118201336:T:A p.(Thr316Ser) NC_000012.12:118201336:T:A Identity +NM_005646.4:c.2249G>A NP_005637.3:p.Arg750His NC_000001.11:234433554:C:T p.(Arg750His) NC_000001.11:234433554:C:T p.(Arg750His) NC_000001.11:234433554:C:T Identity +NM_152232.6:c.652G>A NP_689418.2:p.Asp218Asn NC_000001.11:18854817:C:T p.(Asp218Asn) NC_000001.11:18854817:C:T p.(Asp218Asn) NC_000001.11:18854817:C:T Identity +NM_023919.2:c.515G>C NP_076408.1:p.Cys172Ser NC_000012.12:10802055:C:G p.(Cys172Ser) NC_000012.12:10802055:C:G p.(Cys172Ser) NC_000012.12:10802055:C:G Identity +NM_001321783.2:c.1331C>A NP_001308712.2:p.Ser444Tyr NC_000010.11:5735429:C:A p.(Ser444Tyr) NC_000010.11:5735429:C:A p.(Ser444Tyr) NC_000010.11:5735429:C:A Identity +NM_001284303.2:c.194T>C NP_001271232.1:p.Met65Thr NC_000022.11:46793631:T:C p.(Met65Thr) NC_000022.11:46793631:T:C p.(Met65Thr) NC_000022.11:46793631:T:C Identity +NM_005172.2:c.914T>G NP_005163.1:p.Met305Arg NC_000004.12:93829839:T:G p.(Met305Arg) NC_000004.12:93829839:T:G p.(Met305Arg) NC_000004.12:93829839:T:G Identity +NM_001330186.2:c.43A>G NP_001317115.1:p.Arg15Gly NC_000012.12:64824921:A:G p.(Arg15Gly) NC_000012.12:64824921:A:G p.(Arg15Gly) NC_000012.12:64824921:A:G Identity +NM_001145088.2:c.1486T>A NP_001138560.1:p.Tyr496Asn NC_000008.11:123120103:T:A p.(Tyr496Asn) NC_000008.11:123120103:T:A p.(Tyr496Asn) NC_000008.11:123120103:T:A Identity +NM_001286658.2:c.896G>A NP_001273587.1:p.Arg299Gln NC_000013.11:75362209:C:T p.(Arg299Gln) NC_000013.11:75362209:C:T p.(Arg299Gln) NC_000013.11:75362209:C:T Identity +NM_003192.3:c.1010C>A NP_003183.2:p.Pro337His NC_000006.12:42745063:G:T p.(Pro337His) NC_000006.12:42745063:G:T p.(Pro337His) NC_000006.12:42745063:G:T Identity +NM_152228.3:c.2285G>A NP_689414.2:p.Arg762His NC_000001.11:1334189:G:A p.(Arg762His) NC_000001.11:1334189:G:A p.(Arg762His) NC_000001.11:1334189:G:A Identity +NM_001386348.1:c.155A>G NP_001373277.1:p.Glu52Gly NC_000005.10:9629757:T:C p.(Glu52Gly) NC_000005.10:9629757:T:C p.(Glu52Gly) NC_000005.10:9629757:T:C Identity +NM_001321783.2:c.6125C>T NP_001308712.2:p.Thr2042Ile NC_000010.11:5749545:C:T p.(Thr2042Ile) NC_000010.11:5749545:C:T p.(Thr2042Ile) NC_000010.11:5749545:C:T Identity +NM_001139466.1:c.79C>T NP_001132938.1:p.His27Tyr NC_000023.11:9653664:C:T p.(His27Tyr) NC_000023.11:9653664:C:T p.(His27Tyr) NC_000023.11:9653664:C:T Identity +NM_006453.3:c.2233G>A NP_006444.2:p.Glu745Lys NC_000016.10:1978410:G:A p.(Glu745Lys) NC_000016.10:1978410:G:A p.(Glu745Lys) NC_000016.10:1978410:G:A Identity +NM_006453.3:c.2065A>G NP_006444.2:p.Ile689Val NC_000016.10:1978150:A:G p.(Ile689Val) NC_000016.10:1978150:A:G p.(Ile689Val) NC_000016.10:1978150:A:G Identity +NM_006453.3:c.2368C>T NP_006444.2:p.Leu790Phe NC_000016.10:1978625:C:T p.(Leu790Phe) NC_000016.10:1978625:C:T p.(Leu790Phe) NC_000016.10:1978625:C:T Identity +NM_001317991.2:c.1508T>C NP_001304920.1:p.Ile503Thr NC_000009.12:35105329:A:G p.(Ile503Thr) NC_000009.12:35105329:A:G p.(Ile503Thr) NC_000009.12:35105329:A:G Identity +NM_001330677.2:c.1642T>G NP_001317606.1:p.Ser548Ala NC_000001.11:118884898:A:C p.(Ser548Ala) NC_000001.11:118884898:A:C p.(Ser548Ala) NC_000001.11:118884898:A:C Identity +NM_005994.4:c.1810G>A NP_005985.3:p.Gly604Ser NC_000017.11:61408176:G:A p.(Gly604Ser) NC_000017.11:61408176:G:A p.(Gly604Ser) NC_000017.11:61408176:G:A Identity +NM_001007026.2:c.1103C>T NP_001007027.1:p.Ala368Val NC_000012.12:6936369:C:T p.(Ala368Val) NC_000012.12:6936369:C:T p.(Ala368Val) NC_000012.12:6936369:C:T Identity +NM_001199198.3:c.376C>T NP_001186127.1:p.Leu126Phe NC_000003.12:100283710:C:T p.(Leu126Phe) NC_000003.12:100283710:C:T p.(Leu126Phe) NC_000003.12:100283710:C:T Identity +NM_001080468.4:c.278G>C NP_001073937.1:p.Arg93Pro NC_000019.10:39203976:C:G p.(Arg93Pro) NC_000019.10:39203976:C:G p.(Arg93Pro) NC_000019.10:39203976:C:G Identity +NM_003178.6:c.889C>G NP_003169.2:p.Leu297Val NC_000003.12:12162062:C:G p.(Leu297Val) NC_000003.12:12162062:C:G p.(Leu297Val) NC_000003.12:12162062:C:G Identity +NM_001253912.2:c.1546A>G NP_001240841.1:p.Asn516Asp NC_000004.12:38045819:A:G p.(Asn516Asp) NC_000004.12:38045819:A:G p.(Asn516Asp) NC_000004.12:38045819:A:G Identity +NM_001204240.2:c.1064T>G NP_001191169.1:p.Val355Gly NC_000022.11:30293657:A:C p.(Val355Gly) NC_000022.11:30293657:A:C p.(Val355Gly) NC_000022.11:30293657:A:C Identity +NM_015251.3:c.185C>T NP_056066.2:p.Ala62Val NC_000016.10:81036054:C:T p.(Ala62Val) NC_000016.10:81036054:C:T p.(Ala62Val) NC_000016.10:81036054:C:T Identity +NM_015527.4:c.2299C>T NP_056342.3:p.Arg767Trp NC_000016.10:30358071:G:A p.(Arg767Trp) NC_000016.10:30358071:G:A p.(Arg767Trp) NC_000016.10:30358071:G:A Identity +NM_001113361.2:c.110C>T NP_001106832.1:p.Ala37Val NC_000004.12:6923498:C:T p.(Ala37Val) NC_000004.12:6923498:C:T p.(Ala37Val) NC_000004.12:6923498:C:T Identity +NM_001040006.2:c.275C>T NP_001035095.1:p.Pro92Leu NC_000005.10:146455270:C:T p.(Pro92Leu) NC_000005.10:146455270:C:T p.(Pro92Leu) NC_000005.10:146455270:C:T Identity +NM_001193502.2:c.71T>A NP_001180431.1:p.Ile24Asn NC_000008.11:66961694:A:T p.(Ile24Asn) NC_000008.11:66961694:A:T p.(Ile24Asn) NC_000008.11:66961694:A:T Identity +NM_001286658.2:c.2561A>G NP_001273587.1:p.Lys854Arg NC_000013.11:75309949:T:C p.(Lys854Arg) NC_000013.11:75309949:T:C p.(Lys854Arg) NC_000013.11:75309949:T:C Identity +NM_017752.3:c.1903C>A NP_060222.2:p.His635Asn NC_000023.11:106850089:C:A p.(His635Asn) NC_000023.11:106850089:C:A p.(His635Asn) NC_000023.11:106850089:C:A Identity +NM_015180.6:c.4336G>C NP_055995.4:p.Val1446Leu NC_000014.9:64003268:G:C p.(Val1446Leu) NC_000014.9:64003268:G:C p.(Val1446Leu) NC_000014.9:64003268:G:C Identity +NM_004209.6:c.583G>T NP_004200.2:p.Gly195Cys NC_000016.10:1992964:G:T p.(Gly195Cys) NC_000016.10:1992964:G:T p.(Gly195Cys) NC_000016.10:1992964:G:T Identity +NM_001128933.3:c.1439A>G NP_001122405.1:p.Lys480Arg NC_000004.12:119030213:A:G p.(Lys480Arg) NC_000004.12:119030213:A:G p.(Lys480Arg) NC_000004.12:119030213:A:G Identity +NM_001387142.1:c.341G>A NP_001374071.1:p.Gly114Glu NC_000015.10:78077311:C:T p.(Gly114Glu) NC_000015.10:78077311:C:T p.(Gly114Glu) NC_000015.10:78077311:C:T Identity +NM_001134381.2:c.262A>C NP_001127853.1:p.Ser88Arg NC_000003.12:17406431:T:G p.(Ser88Arg) NC_000003.12:17406431:T:G p.(Ser88Arg) NC_000003.12:17406431:T:G Identity +NM_006453.3:c.40A>G NP_006444.2:p.Asn14Asp NC_000016.10:1972203:A:G p.(Asn14Asp) NC_000016.10:1972203:A:G p.(Asn14Asp) NC_000016.10:1972203:A:G Identity +NM_001317991.2:c.1097A>C NP_001304920.1:p.His366Pro NC_000009.12:35106372:T:G p.(His366Pro) NC_000009.12:35106372:T:G p.(His366Pro) NC_000009.12:35106372:T:G Identity +NM_001321120.2:c.829C>G NP_001308049.1:p.Gln277Glu NC_000017.11:61480126:C:G p.(Gln277Glu) NC_000017.11:61480126:C:G p.(Gln277Glu) NC_000017.11:61480126:C:G Identity +NM_003179.3:c.688G>A NP_003170.1:p.Ala230Thr NC_000023.11:49191690:C:T p.(Ala230Thr) NC_000023.11:49191690:C:T p.(Ala230Thr) NC_000023.11:49191690:C:T Identity +NM_001247987.2:c.139T>C NP_001234916.1:p.Cys47Arg NC_000011.10:45252695:A:G p.(Cys47Arg) NC_000011.10:45252695:A:G p.(Cys47Arg) NC_000011.10:45252695:A:G Identity +NM_001394755.1:c.1595C>A NP_001381684.1:p.Pro532Gln NC_000017.11:47709327:C:A p.(Pro532Gln) NC_000017.11:47709327:C:A p.(Pro532Gln) NC_000017.11:47709327:C:A Identity +NM_006593.4:c.137T>C NP_006584.1:p.Leu46Pro NC_000002.12:161416546:T:C p.(Leu46Pro) NC_000002.12:161416546:T:C p.(Leu46Pro) NC_000002.12:161416546:T:C Identity +NM_005149.3:c.1174C>A NP_005140.1:p.Pro392Thr NC_000001.11:168312828:C:A p.(Pro392Thr) NC_000001.11:168312828:C:A p.(Pro392Thr) NC_000001.11:168312828:C:A Identity +NM_001109878.2:c.1553A>G NP_001103348.1:p.His518Arg NC_000023.11:80031100:A:G p.(His518Arg) NC_000023.11:80031100:A:G p.(His518Arg) NC_000023.11:80031100:A:G Identity +NM_000192.3:c.504T>A NP_000183.2:p.Phe168Leu NC_000012.12:114398578:A:T p.(Phe168Leu) NC_000012.12:114398578:A:T p.(Phe168Leu) NC_000012.12:114398578:A:T Identity +NM_001302884.2:c.2638G>A NP_001289813.1:p.Glu880Lys NC_000009.12:97483295:G:A p.(Glu880Lys) NC_000009.12:97483295:G:A p.(Glu880Lys) NC_000009.12:97483295:G:A Identity +NM_015395.3:c.140G>C NP_056210.1:p.Gly47Ala NC_000007.14:98246006:C:G p.(Gly47Ala) NC_000007.14:98246006:C:G p.(Gly47Ala) NC_000007.14:98246006:C:G Identity +NM_175769.3:c.250C>T NP_786951.1:p.Arg84Trp NC_000002.12:27150149:C:T p.(Arg84Trp) NC_000002.12:27150149:C:T p.(Arg84Trp) NC_000002.12:27150149:C:T Identity +NM_175067.1:c.449G>A NP_778237.1:p.Gly150Glu NC_000006.12:132570769:G:A p.(Gly150Glu) NC_000006.12:132570769:G:A p.(Gly150Glu) NC_000006.12:132570769:G:A Identity +NM_006116.3:c.1225C>A NP_006107.1:p.Leu409Ile NC_000022.11:39428100:C:A p.(Leu409Ile) NC_000022.11:39428100:C:A p.(Leu409Ile) NC_000022.11:39428100:C:A Identity +NM_001297563.2:c.68T>C NP_001284492.1:p.Phe23Ser NC_000023.11:13662575:T:C p.(Phe23Ser) NC_000023.11:13662575:T:C p.(Phe23Ser) NC_000023.11:13662575:T:C Identity +NM_007113.4:c.760C>T NP_009044.2:p.Arg254Trp NC_000001.11:152112456:G:A p.(Arg254Trp) NC_000001.11:152112456:G:A p.(Arg254Trp) NC_000001.11:152112456:G:A Identity +NM_001010874.5:c.86A>G NP_001010874.2:p.Asp29Gly NC_000004.12:64409265:T:C p.(Asp29Gly) NC_000004.12:64409265:T:C p.(Asp29Gly) NC_000004.12:64409265:T:C Identity +NM_144705.4:c.332C>G NP_653306.1:p.Ala111Gly NC_000002.12:94871910:C:G p.(Ala111Gly) NC_000002.12:94871910:C:G p.(Ala111Gly) NC_000002.12:94871910:C:G Identity +NM_001163278.2:c.7634A>T NP_001156750.1:p.Asp2545Val NC_000023.11:124381100:T:A p.(Asp2545Val) NC_000023.11:124381100:T:A p.(Asp2545Val) NC_000023.11:124381100:T:A Identity +NM_001080428.3:c.4017T>A NP_001073897.2:p.Asn1339Lys NC_000005.10:168218624:T:A p.(Asn1339Lys) NC_000005.10:168218624:T:A p.(Asn1339Lys) NC_000005.10:168218624:T:A Identity +NM_007113.4:c.4452C>A NP_009044.2:p.Asp1484Glu NC_000001.11:152108764:G:T p.(Asp1484Glu) NC_000001.11:152108764:G:T p.(Asp1484Glu) NC_000001.11:152108764:G:T Identity +NM_001261817.2:c.155A>G NP_001248746.2:p.Lys52Arg NC_000006.12:35136172:T:C p.(Lys52Arg) NC_000006.12:35136172:T:C p.(Lys52Arg) NC_000006.12:35136172:T:C Identity +NM_152772.3:c.805G>C NP_689985.1:p.Glu269Gln NC_000012.12:106335670:G:C p.(Glu269Gln) NC_000012.12:106335670:G:C p.(Glu269Gln) NC_000012.12:106335670:G:C Identity +NM_001082537.3:c.1591G>A NP_001076006.1:p.Ala531Thr NC_000012.12:110647306:G:A p.(Ala531Thr) NC_000012.12:110647306:G:A p.(Ala531Thr) NC_000012.12:110647306:G:A Identity +NM_001008536.2:c.1456G>A NP_001008536.1:p.Ala486Thr NC_000001.11:152086225:C:T p.(Ala486Thr) NC_000001.11:152086225:C:T p.(Ala486Thr) NC_000001.11:152086225:C:T Identity +NM_001143850.3:c.915G>C NP_001137322.1:p.Gln305His NC_000012.12:123690558:G:C p.(Gln305His) NC_000012.12:123690558:G:C p.(Gln305His) NC_000012.12:123690558:G:C Identity +NM_003185.4:c.706A>C NP_003176.2:p.Thr236Pro NC_000020.11:62065104:T:G p.(Thr236Pro) NC_000020.11:62065104:T:G p.(Thr236Pro) NC_000020.11:62065104:T:G Identity +NM_054114.5:c.13A>G NP_473455.2:p.Ser5Gly NC_000006.12:159044133:T:C p.(Ser5Gly) NC_000006.12:159044133:T:C p.(Ser5Gly) NC_000006.12:159044133:T:C Identity +NM_001278733.2:c.1610T>C NP_001265662.1:p.Met537Thr NC_000006.12:159036223:A:G p.(Met537Thr) NC_000006.12:159036223:A:G p.(Met537Thr) NC_000006.12:159036223:A:G Identity +NM_006755.2:c.916G>A NP_006746.1:p.Glu306Lys NC_000011.10:764367:G:A p.(Glu306Lys) NC_000011.10:764367:G:A p.(Glu306Lys) NC_000011.10:764367:G:A Identity +NM_001193376.3:c.1033T>C NP_001180305.1:p.Phe345Leu NC_000005.10:1293852:A:G p.(Phe345Leu) NC_000005.10:1293852:A:G p.(Phe345Leu) NC_000005.10:1293852:A:G Identity +NM_001127208.3:c.1540C>T NP_001120680.1:p.His514Tyr NC_000004.12:105235481:C:T p.(His514Tyr) NC_000004.12:105235481:C:T p.(His514Tyr) NC_000004.12:105235481:C:T Identity +NM_001145909.2:c.569C>T NP_001139381.1:p.Pro190Leu NC_000002.12:159150445:C:T p.(Pro190Leu) NC_000002.12:159150445:C:T p.(Pro190Leu) NC_000002.12:159150445:C:T Identity +NM_024562.2:c.1597C>T NP_078838.1:p.Leu533Phe NC_000016.10:68902433:C:T p.(Leu533Phe) NC_000016.10:68902433:C:T p.(Leu533Phe) NC_000016.10:68902433:C:T Identity +NM_020791.4:c.200C>G NP_065842.1:p.Thr67Ser NC_000017.11:29467211:C:G p.(Thr67Ser) NC_000017.11:29467211:C:G p.(Thr67Ser) NC_000017.11:29467211:C:G Identity +NM_152232.6:c.417T>G NP_689418.2:p.Ile139Met NC_000001.11:18857396:A:C p.(Ile139Met) NC_000001.11:18857396:A:C p.(Ile139Met) NC_000001.11:18857396:A:C Identity +NM_001405661.1:c.3217G>A NP_001392590.1:p.Gly1073Arg NC_000013.11:112875830:G:A p.(Gly1073Arg) NC_000013.11:112875830:G:A p.(Gly1073Arg) NC_000013.11:112875830:G:A Identity +NM_001130011.3:c.354C>G NP_001123483.1:p.Asp118Glu NC_000019.10:43416517:C:G p.(Asp118Glu) NC_000019.10:43416517:C:G p.(Asp118Glu) NC_000019.10:43416517:C:G Identity +NM_001350162.2:c.1412C>T NP_001337091.1:p.Ser471Leu NC_000008.11:30848754:G:A p.(Ser471Leu) NC_000008.11:30848754:G:A p.(Ser471Leu) NC_000008.11:30848754:G:A Identity +NM_001350162.2:c.8255A>G NP_001337091.1:p.Lys2752Arg NC_000008.11:30838028:T:C p.(Lys2752Arg) NC_000008.11:30838028:T:C p.(Lys2752Arg) NC_000008.11:30838028:T:C Identity +NM_020453.4:c.4118G>A NP_065186.3:p.Arg1373Lys NC_000004.12:47591217:G:A p.(Arg1373Lys) NC_000004.12:47591217:G:A p.(Arg1373Lys) NC_000004.12:47591217:G:A Identity +NM_153046.3:c.1102A>G NP_694591.2:p.Met368Val NC_000014.9:103986306:A:G p.(Met368Val) NC_000014.9:103986306:A:G p.(Met368Val) NC_000014.9:103986306:A:G Identity +NM_015395.3:c.292G>A NP_056210.1:p.Val98Met NC_000007.14:98245000:C:T p.(Val98Met) NC_000007.14:98245000:C:T p.(Val98Met) NC_000007.14:98245000:C:T Identity +NM_001010874.5:c.128C>A NP_001010874.2:p.Ala43Glu NC_000004.12:64409223:G:T p.(Ala43Glu) NC_000004.12:64409223:G:T p.(Ala43Glu) NC_000004.12:64409223:G:T Identity +NM_001378761.1:c.5449T>C NP_001365690.1:p.Phe1817Leu NC_000011.10:121158026:T:C p.(Phe1817Leu) NC_000011.10:121158026:T:C p.(Phe1817Leu) NC_000011.10:121158026:T:C Identity +NM_001103170.3:c.807A>T NP_001096640.2:p.Lys269Asn NC_000001.11:12725578:A:T p.(Lys269Asn) NC_000001.11:12725578:A:T p.(Lys269Asn) NC_000001.11:12725578:A:T Identity +NM_001017523.2:c.334C>T NP_001017523.1:p.Arg112Trp NC_000012.12:107610268:C:T p.(Arg112Trp) NC_000012.12:107610268:C:T p.(Arg112Trp) NC_000012.12:107610268:C:T Identity +NM_018980.3:c.553C>T NP_061853.1:p.Leu185Phe NC_000007.14:141790913:C:T p.(Leu185Phe) NC_000007.14:141790913:C:T p.(Leu185Phe) NC_000007.14:141790913:C:T Identity +NM_001378761.1:c.4196A>G NP_001365690.1:p.Asp1399Gly NC_000011.10:121137717:A:G p.(Asp1399Gly) NC_000011.10:121137717:A:G p.(Asp1399Gly) NC_000011.10:121137717:A:G Identity +NM_144674.2:c.967C>G NP_653275.1:p.Leu323Val NC_000016.10:10676077:G:C p.(Leu323Val) NC_000016.10:10676077:G:C p.(Leu323Val) NC_000016.10:10676077:G:C Identity +NM_001080428.3:c.2417C>T NP_001073897.2:p.Thr806Ile NC_000005.10:168199064:C:T p.(Thr806Ile) NC_000005.10:168199064:C:T p.(Thr806Ile) NC_000005.10:168199064:C:T Identity +NM_003223.3:c.427T>G NP_003214.1:p.Trp143Gly NC_000016.10:4261876:A:C p.(Trp143Gly) NC_000016.10:4261876:A:C p.(Trp143Gly) NC_000016.10:4261876:A:C Identity +NM_014553.3:c.413T>C NP_055368.1:p.Val138Ala NC_000002.12:121248254:A:G p.(Val138Ala) NC_000002.12:121248254:A:G p.(Val138Ala) NC_000002.12:121248254:A:G Identity +NM_001080428.3:c.6955G>A NP_001073897.2:p.Gly2319Ser NC_000005.10:168262156:G:A p.(Gly2319Ser) NC_000005.10:168262156:G:A p.(Gly2319Ser) NC_000005.10:168262156:G:A Identity +NM_015188.2:c.47A>C NP_056003.1:p.Lys16Thr NC_000010.11:94402659:A:C p.(Lys16Thr) NC_000010.11:94402659:A:C p.(Lys16Thr) NC_000010.11:94402659:A:C Identity +NM_001010986.3:c.2177G>A NP_001010986.2:p.Arg726His NC_000023.11:139774737:C:T p.(Arg726His) NC_000023.11:139774737:C:T p.(Arg726His) NC_000023.11:139774737:C:T Identity +NM_017633.3:c.191A>G NP_060103.2:p.Asn64Ser NC_000006.12:81751950:T:C p.(Asn64Ser) NC_000006.12:81751950:T:C p.(Asn64Ser) NC_000006.12:81751950:T:C Identity +NM_001319035.2:c.4301T>C NP_001305964.1:p.Leu1434Pro NC_000014.9:20381334:A:G p.(Leu1434Pro) NC_000014.9:20381334:A:G p.(Leu1434Pro) NC_000014.9:20381334:A:G Identity +NM_001410928.1:c.1088A>T NP_001397857.1:p.Glu363Val NC_000008.11:73039133:A:T p.(Glu363Val) NC_000008.11:73039133:A:T p.(Glu363Val) NC_000008.11:73039133:A:T Identity +NM_001142621.3:c.2482C>G NP_001136093.1:p.Pro828Ala NC_000002.12:105267483:G:C p.(Pro828Ala) NC_000002.12:105267483:G:C p.(Pro828Ala) NC_000002.12:105267483:G:C Identity +NM_001008695.1:c.479C>T NP_001008695.1:p.Pro160Leu NC_000022.11:21000330:G:A p.(Pro160Leu) NC_000022.11:21000330:G:A p.(Pro160Leu) NC_000022.11:21000330:G:A Identity +NM_018975.4:c.859C>T NP_061848.2:p.Pro287Ser NC_000016.10:75656269:C:T p.(Pro287Ser) NC_000016.10:75656269:C:T p.(Pro287Ser) NC_000016.10:75656269:C:T Identity +NM_001127208.3:c.2919C>G NP_001120680.1:p.Cys973Trp NC_000004.12:105236860:C:G p.(Cys973Trp) NC_000004.12:105236860:C:G p.(Cys973Trp) NC_000004.12:105236860:C:G Identity +NM_001127208.3:c.2338A>G NP_001120680.1:p.Lys780Glu NC_000004.12:105236279:A:G p.(Lys780Glu) NC_000004.12:105236279:A:G p.(Lys780Glu) NC_000004.12:105236279:A:G Identity +NM_001330186.2:c.1813A>T NP_001317115.1:p.Thr605Ser NC_000012.12:64875386:A:T p.(Thr605Ser) NC_000012.12:64875386:A:T p.(Thr605Ser) NC_000012.12:64875386:A:T Identity +NM_003246.4:c.1808A>G NP_003237.2:p.Asn603Ser NC_000015.10:39589235:A:G p.(Asn603Ser) NC_000015.10:39589235:A:G p.(Asn603Ser) NC_000015.10:39589235:A:G Identity +NM_001381939.1:c.1700G>T NP_001368868.1:p.Arg567Leu NC_000006.12:169232721:C:A p.(Arg567Leu) NC_000006.12:169232721:C:A p.(Arg567Leu) NC_000006.12:169232721:C:A Identity +NM_001286449.2:c.867G>T NP_001273378.1:p.Arg289Ser NC_000015.10:56427732:G:T p.(Arg289Ser) NC_000015.10:56427732:G:T p.(Arg289Ser) NC_000015.10:56427732:G:T Identity +NM_001193376.3:c.1274T>A NP_001180305.1:p.Val425Asp NC_000005.10:1293611:A:T p.(Val425Asp) NC_000005.10:1293611:A:T p.(Val425Asp) NC_000005.10:1293611:A:T Identity +NM_001193376.3:c.1946A>G NP_001180305.1:p.Lys649Arg NC_000005.10:1280161:T:C p.(Lys649Arg) NC_000005.10:1280161:T:C p.(Lys649Arg) NC_000005.10:1280161:T:C Identity +NM_020410.3:c.187C>T NP_065143.2:p.Arg63Trp NC_000019.10:19663479:G:A p.(Arg63Trp) NC_000019.10:19663479:G:A p.(Arg63Trp) NC_000019.10:19663479:G:A Identity +NM_001317991.2:c.1411G>A NP_001304920.1:p.Glu471Lys NC_000009.12:35105733:C:T p.(Glu471Lys) NC_000009.12:35105733:C:T p.(Glu471Lys) NC_000009.12:35105733:C:T Identity +NM_001330677.2:c.490G>A NP_001317606.1:p.Asp164Asn NC_000001.11:118926540:C:T p.(Asp164Asn) NC_000001.11:118926540:C:T p.(Asp164Asn) NC_000001.11:118926540:C:T Identity +NM_005994.4:c.1195C>G NP_005985.3:p.Arg399Gly NC_000017.11:61405344:C:G p.(Arg399Gly) NC_000017.11:61405344:C:G p.(Arg399Gly) NC_000017.11:61405344:C:G Identity +NM_005996.4:c.1279C>T NP_005987.3:p.Arg427Cys NC_000012.12:114674595:G:A p.(Arg427Cys) NC_000012.12:114674595:G:A p.(Arg427Cys) NC_000012.12:114674595:G:A Identity +NM_001308025.1:c.1428G>T NP_001294954.1:p.Trp476Cys NC_000015.10:89592065:G:T p.(Trp476Cys) NC_000015.10:89592065:G:T p.(Trp476Cys) NC_000015.10:89592065:G:T Identity +NM_001253357.2:c.72C>G NP_001240286.1:p.Ile24Met NC_000001.11:43304998:C:G p.(Ile24Met) NC_000001.11:43304998:C:G p.(Ile24Met) NC_000001.11:43304998:C:G Identity +NM_001253357.2:c.2348C>T NP_001240286.1:p.Pro783Leu NC_000001.11:43317271:C:T p.(Pro783Leu) NC_000001.11:43317271:C:T p.(Pro783Leu) NC_000001.11:43317271:C:T Identity +NM_003235.5:c.5947C>T NP_003226.4:p.Pro1983Ser NC_000008.11:132969540:C:T p.(Pro1983Ser) NC_000008.11:132969540:C:T p.(Pro1983Ser) NC_000008.11:132969540:C:T Identity +NM_003235.5:c.1141G>C NP_003226.4:p.Gly381Arg NC_000008.11:132886512:G:C p.(Gly381Arg) NC_000008.11:132886512:G:C p.(Gly381Arg) NC_000008.11:132886512:G:C Identity +NM_144699.4:c.1421C>T NP_653300.2:p.Ser474Phe NC_000001.11:160167341:C:T p.(Ser474Phe) NC_000001.11:160167341:C:T p.(Ser474Phe) NC_000001.11:160167341:C:T Identity +NM_001350162.2:c.8185A>G NP_001337091.1:p.Lys2729Glu NC_000008.11:30839942:T:C p.(Lys2729Glu) NC_000008.11:30839942:T:C p.(Lys2729Glu) NC_000008.11:30839942:T:C Identity +NM_001350162.2:c.5804A>G NP_001337091.1:p.Gln1935Arg NC_000008.11:30844362:T:C p.(Gln1935Arg) NC_000008.11:30844362:T:C p.(Gln1935Arg) NC_000008.11:30844362:T:C Identity +NM_001350162.2:c.1511A>T NP_001337091.1:p.Asn504Ile NC_000008.11:30848655:T:A p.(Asn504Ile) NC_000008.11:30848655:T:A p.(Asn504Ile) NC_000008.11:30848655:T:A Identity +NM_001288732.2:c.1028A>G NP_001275661.1:p.Asn343Ser NC_000017.11:64213189:T:C p.(Asn343Ser) NC_000017.11:64213189:T:C p.(Asn343Ser) NC_000017.11:64213189:T:C Identity +NM_007113.4:c.2165G>A NP_009044.2:p.Arg722Lys NC_000001.11:152111051:C:T p.(Arg722Lys) NC_000001.11:152111051:C:T p.(Arg722Lys) NC_000001.11:152111051:C:T Identity +NM_145719.3:c.1365C>A NP_663771.1:p.Phe455Leu NC_000011.10:65357172:C:A p.(Phe455Leu) NC_000011.10:65357172:C:A p.(Phe455Leu) NC_000011.10:65357172:C:A Identity +NM_001001323.2:c.1231A>G NP_001001323.1:p.Ile411Val NC_000012.12:89624295:T:C p.(Ile411Val) NC_000012.12:89624295:T:C p.(Ile411Val) NC_000012.12:89624295:T:C Identity +NM_001301025.3:c.2735G>A NP_001287954.2:p.Arg912His NC_000015.10:29720664:C:T p.(Arg912His) NC_000015.10:29720664:C:T p.(Arg912His) NC_000015.10:29720664:C:T Identity +NM_001331102.2:c.617T>C NP_001318031.1:p.Ile206Thr NC_000019.10:36035524:A:G p.(Ile206Thr) NC_000019.10:36035524:A:G p.(Ile206Thr) NC_000019.10:36035524:A:G Identity +NM_003235.5:c.6887C>T NP_003226.4:p.Ala2296Val NC_000008.11:133022000:C:T p.(Ala2296Val) NC_000008.11:133022000:C:T p.(Ala2296Val) NC_000008.11:133022000:C:T Identity +NM_000701.8:c.205G>A NP_000692.2:p.Ala69Thr NC_000001.11:116387308:G:A p.(Ala69Thr) NC_000001.11:116387308:G:A p.(Ala69Thr) NC_000001.11:116387308:G:A Identity +NM_000355.4:c.1201C>G NP_000346.2:p.Pro401Ala NC_000022.11:30623061:C:G p.(Pro401Ala) NC_000022.11:30623061:C:G p.(Pro401Ala) NC_000022.11:30623061:C:G Identity +NM_001365891.2:c.1874G>T NP_001352820.1:p.Cys625Phe NC_000010.11:114213387:G:T p.(Cys625Phe) NC_000010.11:114213387:G:T p.(Cys625Phe) NC_000010.11:114213387:G:T Identity +NM_001199085.3:c.354T>G NP_001186014.1:p.His118Gln NC_000001.11:179593580:T:G p.(His118Gln) NC_000001.11:179593580:T:G p.(His118Gln) NC_000001.11:179593580:T:G Identity +NM_001001344.3:c.2854G>C NP_001001344.1:p.Asp952His NC_000023.11:153560689:G:C p.(Asp952His) NC_000023.11:153560689:G:C p.(Asp952His) NC_000023.11:153560689:G:C Identity +NM_001394532.1:c.1063C>A NP_001381461.1:p.Arg355Ser NC_000015.10:71411733:C:A p.(Arg355Ser) NC_000015.10:71411733:C:A p.(Arg355Ser) NC_000015.10:71411733:C:A Identity +NM_004245.4:c.53A>C NP_004236.1:p.Asn18Thr NC_000015.10:43260536:T:G p.(Asn18Thr) NC_000015.10:43260536:T:G p.(Asn18Thr) NC_000015.10:43260536:T:G Identity +NM_003265.3:c.41T>C NP_003256.1:p.Leu14Pro NC_000004.12:186076659:T:C p.(Leu14Pro) NC_000004.12:186076659:T:C p.(Leu14Pro) NC_000004.12:186076659:T:C Identity +NM_004800.3:c.373A>G NP_004791.1:p.Thr125Ala NC_000013.11:99529505:A:G p.(Thr125Ala) NC_000013.11:99529505:A:G p.(Thr125Ala) NC_000013.11:99529505:A:G Identity +NM_001010870.3:c.3604A>G NP_001010870.1:p.Lys1202Glu NC_000006.12:46691731:A:G p.(Lys1202Glu) NC_000006.12:46691731:A:G p.(Lys1202Glu) NC_000006.12:46691731:A:G Identity +NM_153046.3:c.1459A>G NP_694591.2:p.Lys487Glu NC_000014.9:103998703:A:G p.(Lys487Glu) NC_000014.9:103998703:A:G p.(Lys487Glu) NC_000014.9:103998703:A:G Identity +NM_021961.6:c.1189C>G NP_068780.2:p.Gln397Glu NC_000011.10:12937129:C:G p.(Gln397Glu) NC_000011.10:12937129:C:G p.(Gln397Glu) NC_000011.10:12937129:C:G Identity +NM_001378761.1:c.6343G>A NP_001365690.1:p.Asp2115Asn NC_000011.10:121166594:G:A p.(Asp2115Asn) NC_000011.10:121166594:G:A p.(Asp2115Asn) NC_000011.10:121166594:G:A Identity +NM_024683.4:c.43T>G NP_078959.3:p.Cys15Gly NC_000017.11:30904517:A:C p.(Cys15Gly) NC_000017.11:30904517:A:C p.(Cys15Gly) NC_000017.11:30904517:A:C Identity +NM_001353686.2:c.574C>T NP_001340615.1:p.His192Tyr NC_000021.9:31266398:G:A p.(His192Tyr) NC_000021.9:31266398:G:A p.(His192Tyr) NC_000021.9:31266398:G:A Identity +NM_001308025.1:c.4693C>A NP_001294954.1:p.Gln1565Lys NC_000015.10:89625005:C:A p.(Gln1565Lys) NC_000015.10:89625005:C:A p.(Gln1565Lys) NC_000015.10:89625005:C:A Identity +NM_001308025.1:c.1264C>G NP_001294954.1:p.Arg422Gly NC_000015.10:89585797:C:G p.(Arg422Gly) NC_000015.10:89585797:C:G p.(Arg422Gly) NC_000015.10:89585797:C:G Identity +NM_145719.3:c.352G>C NP_663771.1:p.Val118Leu NC_000011.10:65356159:G:C p.(Val118Leu) NC_000011.10:65356159:G:C p.(Val118Leu) NC_000011.10:65356159:G:C Identity +NM_001306212.2:c.134G>A NP_001293141.1:p.Arg45Gln NC_000005.10:80055898:G:A p.(Arg45Gln) NC_000005.10:80055898:G:A p.(Arg45Gln) NC_000005.10:80055898:G:A Identity +NM_018676.4:c.771G>C NP_061146.1:p.Glu257Asp NC_000013.11:52397481:C:G p.(Glu257Asp) NC_000013.11:52397481:C:G p.(Glu257Asp) NC_000013.11:52397481:C:G Identity +NM_001286429.2:c.573G>A NP_001273358.1:p.Met191Ile NC_000015.10:71737753:G:A p.(Met191Ile) NC_000015.10:71737753:G:A p.(Met191Ile) NC_000015.10:71737753:G:A Identity +NM_001080477.4:c.4162G>A NP_001073946.1:p.Gly1388Arg NC_000004.12:182754528:G:A p.(Gly1388Arg) NC_000004.12:182754528:G:A p.(Gly1388Arg) NC_000004.12:182754528:G:A Identity +NM_001010927.3:c.311A>G NP_001010927.2:p.Gln104Arg NC_000006.12:155244775:A:G p.(Gln104Arg) NC_000006.12:155244775:A:G p.(Gln104Arg) NC_000006.12:155244775:A:G Identity +NM_001167947.2:c.46G>A NP_001161419.1:p.Asp16Asn NC_000023.11:48896838:C:T p.(Asp16Asn) NC_000023.11:48896838:C:T p.(Asp16Asn) NC_000023.11:48896838:C:T Identity +NM_001301025.3:c.2861C>G NP_001287954.2:p.Thr954Ser NC_000015.10:29720538:G:C p.(Thr954Ser) NC_000015.10:29720538:G:C p.(Thr954Ser) NC_000015.10:29720538:G:C Identity +NM_001098576.2:c.843G>T NP_001092046.1:p.Met281Ile NC_000012.12:49761757:G:T p.(Met281Ile) NC_000012.12:49761757:G:T p.(Met281Ile) NC_000012.12:49761757:G:T Identity +NM_001301036.2:c.634G>A NP_001287965.1:p.Ala212Thr NC_000012.12:94581889:C:T p.(Ala212Thr) NC_000012.12:94581889:C:T p.(Ala212Thr) NC_000012.12:94581889:C:T Identity +NM_001080477.4:c.3298A>G NP_001073946.1:p.Ile1100Val NC_000004.12:182738462:A:G p.(Ile1100Val) NC_000004.12:182738462:A:G p.(Ile1100Val) NC_000004.12:182738462:A:G Identity +NM_005173.4:c.2890G>A NP_005164.2:p.Gly964Arg NC_000017.11:3928752:C:T p.(Gly964Arg) NC_000017.11:3928752:C:T p.(Gly964Arg) NC_000017.11:3928752:C:T Identity +NM_001301025.3:c.3327C>A NP_001287954.2:p.Asn1109Lys NC_000015.10:29719093:G:T p.(Asn1109Lys) NC_000015.10:29719093:G:T p.(Asn1109Lys) NC_000015.10:29719093:G:T Identity +NM_001001331.4:c.1978G>A NP_001001331.1:p.Val660Met NC_000003.12:10358848:C:T p.(Val660Met) NC_000003.12:10358848:C:T p.(Val660Met) NC_000003.12:10358848:C:T Identity +NM_001144761.2:c.683A>G NP_001138233.1:p.Lys228Arg NC_000019.10:3015689:T:C p.(Lys228Arg) NC_000019.10:3015689:T:C p.(Lys228Arg) NC_000019.10:3015689:T:C Identity +NM_012465.4:c.2059G>A NP_036597.1:p.Asp687Asn NC_000010.11:96384721:C:T p.(Asp687Asn) NC_000010.11:96384721:C:T p.(Asp687Asn) NC_000010.11:96384721:C:T Identity +NM_006289.4:c.709G>A NP_006280.3:p.Glu237Lys NC_000009.12:35724024:C:T p.(Glu237Lys) NC_000009.12:35724024:C:T p.(Glu237Lys) NC_000009.12:35724024:C:T Identity +NM_001017388.3:c.1163C>G NP_001017388.1:p.Ser388Cys NC_000004.12:38774427:G:C p.(Ser388Cys) NC_000004.12:38774427:G:C p.(Ser388Cys) NC_000004.12:38774427:G:C Identity +NM_001286527.3:c.2289G>C NP_001273456.2:p.Gln763His NC_000016.10:84459341:G:C p.(Gln763His) NC_000016.10:84459341:G:C p.(Gln763His) NC_000016.10:84459341:G:C Identity +NM_001286527.3:c.586A>G NP_001273456.2:p.Ile196Val NC_000016.10:84415552:A:G p.(Ile196Val) NC_000016.10:84415552:A:G p.(Ile196Val) NC_000016.10:84415552:A:G Identity +NM_001193537.3:c.503C>T NP_001180466.1:p.Thr168Met NC_000011.10:85636098:C:T p.(Thr168Met) NC_000011.10:85636098:C:T p.(Thr168Met) NC_000011.10:85636098:C:T Identity +NM_015348.2:c.1786G>A NP_056163.1:p.Val596Met NC_000002.12:97812497:C:T p.(Val596Met) NC_000002.12:97812497:C:T p.(Val596Met) NC_000002.12:97812497:C:T Identity +NM_016562.4:c.2335C>T NP_057646.1:p.Leu779Phe NC_000023.11:12887842:C:T p.(Leu779Phe) NC_000023.11:12887842:C:T p.(Leu779Phe) NC_000023.11:12887842:C:T Identity +NM_004617.4:c.166G>A NP_004608.1:p.Gly56Ser NC_000003.12:149475042:G:A p.(Gly56Ser) NC_000003.12:149475042:G:A p.(Gly56Ser) NC_000003.12:149475042:G:A Identity +NM_001093.4:c.248A>G NP_001084.3:p.Lys83Arg NC_000012.12:109139652:A:G p.(Lys83Arg) NC_000012.12:109139652:A:G p.(Lys83Arg) NC_000012.12:109139652:A:G Identity +NM_016551.3:c.334T>A NP_057635.1:p.Leu112Met NC_000012.12:26999588:A:T p.(Leu112Met) NC_000012.12:26999588:A:T p.(Leu112Met) NC_000012.12:26999588:A:T Identity +NM_001321427.2:c.911T>G NP_001308356.1:p.Leu304Arg NC_000002.12:218275499:A:C p.(Leu304Arg) NC_000002.12:218275499:A:C p.(Leu304Arg) NC_000002.12:218275499:A:C Identity +NM_001003811.2:c.2239G>A NP_001003811.1:p.Val747Ile NC_000023.11:70554746:C:T p.(Val747Ile) NC_000023.11:70554746:C:T p.(Val747Ile) NC_000023.11:70554746:C:T Identity +NM_017870.4:c.1978G>A NP_060340.2:p.Gly660Arg NC_000011.10:60935389:G:A p.(Gly660Arg) NC_000011.10:60935389:G:A p.(Gly660Arg) NC_000011.10:60935389:G:A Identity +NM_001686.4:c.26C>T NP_001677.2:p.Ala9Val NC_000012.12:56645937:G:A p.(Ala9Val) NC_000012.12:56645937:G:A p.(Ala9Val) NC_000012.12:56645937:G:A Identity +NM_018342.5:c.550C>T NP_060812.2:p.His184Tyr NC_000004.12:158235491:C:T p.(His184Tyr) NC_000004.12:158235491:C:T p.(His184Tyr) NC_000004.12:158235491:C:T Identity +NM_001137560.2:c.436G>A NP_001131032.1:p.Val146Met NC_000006.12:44273365:G:A p.(Val146Met) NC_000006.12:44273365:G:A p.(Val146Met) NC_000006.12:44273365:G:A Identity +NM_015444.3:c.70G>A NP_056259.2:p.Asp24Asn NC_000003.12:45225957:C:T p.(Asp24Asn) NC_000003.12:45225957:C:T p.(Asp24Asn) NC_000003.12:45225957:C:T Identity +NM_001127198.5:c.2146C>T NP_001120670.1:p.Arg716Trp NC_000017.11:78117519:G:A p.(Arg716Trp) NC_000017.11:78117519:G:A p.(Arg716Trp) NC_000017.11:78117519:G:A Identity +NM_001160364.2:c.830C>T NP_001153836.1:p.Ser277Leu NC_000016.10:19038027:C:T p.(Ser277Leu) NC_000016.10:19038027:C:T p.(Ser277Leu) NC_000016.10:19038027:C:T Identity +NM_001093.4:c.5801G>A NP_001084.3:p.Arg1934Gln NC_000012.12:109252055:G:A p.(Arg1934Gln) NC_000012.12:109252055:G:A p.(Arg1934Gln) NC_000012.12:109252055:G:A Identity +NM_017510.6:c.67C>T NP_059980.2:p.Arg23Trp NC_000005.10:177592280:C:T p.(Arg23Trp) NC_000005.10:177592280:C:T p.(Arg23Trp) NC_000005.10:177592280:C:T Identity +NM_001143841.2:c.460A>G NP_001137313.1:p.Ser154Gly NC_000012.12:47966136:A:G p.(Ser154Gly) NC_000012.12:47966136:A:G p.(Ser154Gly) NC_000012.12:47966136:A:G Identity +NM_001143841.2:c.356A>T NP_001137313.1:p.Lys119Ile NC_000012.12:47965941:A:T p.(Lys119Ile) NC_000012.12:47965941:A:T p.(Lys119Ile) NC_000012.12:47965941:A:T Identity +NM_001178138.2:c.926A>G NP_001171609.1:p.Gln309Arg NC_000003.12:141952961:T:C p.(Gln309Arg) NC_000003.12:141952961:T:C p.(Gln309Arg) NC_000003.12:141952961:T:C Identity +NM_017442.4:c.1975C>T NP_059138.1:p.Arg659Cys NC_000003.12:52222340:G:A p.(Arg659Cys) NC_000003.12:52222340:G:A p.(Arg659Cys) NC_000003.12:52222340:G:A Identity +NM_025141.4:c.610G>T NP_079417.2:p.Val204Phe NC_000015.10:101642534:C:A p.(Val204Phe) NC_000015.10:101642534:C:A p.(Val204Phe) NC_000015.10:101642534:C:A Identity +NM_003492.3:c.28G>A NP_003483.1:p.Val10Met NC_000023.11:153982089:G:A p.(Val10Met) NC_000023.11:153982089:G:A p.(Val10Met) NC_000023.11:153982089:G:A Identity +NM_001134450.2:c.604G>C NP_001127922.1:p.Gly202Arg NC_000007.14:98856130:C:G p.(Gly202Arg) NC_000007.14:98856130:C:G p.(Gly202Arg) NC_000007.14:98856130:C:G Identity +NM_001286219.2:c.682G>A NP_001273148.1:p.Asp228Asn NC_000012.12:125653618:G:A p.(Asp228Asn) NC_000012.12:125653618:G:A p.(Asp228Asn) NC_000012.12:125653618:G:A Identity +NM_000660.7:c.549C>A NP_000651.3:p.Ser183Arg NC_000019.10:41344831:G:T p.(Ser183Arg) NC_000019.10:41344831:G:T p.(Ser183Arg) NC_000019.10:41344831:G:T Identity +NM_001195683.2:c.617T>C NP_001182612.1:p.Leu206Pro NC_000001.11:91729924:A:G p.(Leu206Pro) NC_000001.11:91729924:A:G p.(Leu206Pro) NC_000001.11:91729924:A:G Identity +NM_001195683.2:c.2179G>A NP_001182612.1:p.Glu727Lys NC_000001.11:91708767:C:T p.(Glu727Lys) NC_000001.11:91708767:C:T p.(Glu727Lys) NC_000001.11:91708767:C:T Identity +NM_000359.3:c.886G>T NP_000350.1:p.Gly296Trp NC_000014.9:24259801:C:A p.(Gly296Trp) NC_000014.9:24259801:C:A p.(Gly296Trp) NC_000014.9:24259801:C:A Identity +NM_003245.4:c.4G>A NP_003236.3:p.Ala2Thr NC_000020.11:2296066:G:A p.(Ala2Thr) NC_000020.11:2296066:G:A p.(Ala2Thr) NC_000020.11:2296066:G:A Identity +NM_001145303.3:c.758C>T NP_001138775.2:p.Thr253Ile NC_000019.10:54168227:G:A p.(Thr253Ile) NC_000019.10:54168227:G:A p.(Thr253Ile) NC_000019.10:54168227:G:A Identity +NM_001105248.1:c.2473A>C NP_001098718.1:p.Lys825Gln NC_000016.10:19487225:A:C p.(Lys825Gln) NC_000016.10:19487225:A:C p.(Lys825Gln) NC_000016.10:19487225:A:C Identity +NM_001349112.3:c.675C>G NP_001336041.1:p.Ser225Arg NC_000001.11:19746537:G:C p.(Ser225Arg) NC_000001.11:19746537:G:C p.(Ser225Arg) NC_000001.11:19746537:G:C Identity +NM_001320444.1:c.1084G>T NP_001307373.1:p.Ala362Ser NC_000017.11:7437062:G:T p.(Ala362Ser) NC_000017.11:7437062:G:T p.(Ala362Ser) NC_000017.11:7437062:G:T Identity +NM_017728.4:c.1457C>T NP_060198.3:p.Thr486Met NC_000017.11:74836652:C:T p.(Thr486Met) NC_000017.11:74836652:C:T p.(Thr486Met) NC_000017.11:74836652:C:T Identity +NM_001039763.4:c.217A>G NP_001034852.3:p.Lys73Glu NC_000005.10:110642279:T:C p.(Lys73Glu) NC_000005.10:110642279:T:C p.(Lys73Glu) NC_000005.10:110642279:T:C Identity +NM_001033026.2:c.613C>T NP_001028198.1:p.Pro205Ser NC_000019.10:1012567:G:A p.(Pro205Ser) NC_000019.10:1012567:G:A p.(Pro205Ser) NC_000019.10:1012567:G:A Identity +NM_001242631.3:c.26C>T NP_001229560.1:p.Thr9Met NC_000011.10:65089005:G:A p.(Thr9Met) NC_000011.10:65089005:G:A p.(Thr9Met) NC_000011.10:65089005:G:A Identity +NM_001410997.1:c.52C>G NP_001397926.1:p.Leu18Val NC_000011.10:61364441:C:G p.(Leu18Val) NC_000011.10:61364441:C:G p.(Leu18Val) NC_000011.10:61364441:C:G Identity +NM_144699.4:c.2168A>T NP_653300.2:p.Asp723Val NC_000001.11:160174603:A:T p.(Asp723Val) NC_000001.11:160174603:A:T p.(Asp723Val) NC_000001.11:160174603:A:T Identity +NM_001252607.2:c.865T>C NP_001239536.1:p.Tyr289His NC_000001.11:155202876:A:G p.(Tyr289His) NC_000001.11:155202876:A:G p.(Tyr289His) NC_000001.11:155202876:A:G Identity +NM_001679.4:c.234C>A NP_001670.1:p.Ser78Arg NC_000003.12:141903743:C:A p.(Ser78Arg) NC_000003.12:141903743:C:A p.(Ser78Arg) NC_000003.12:141903743:C:A Identity +NM_001136216.2:c.154G>A NP_001129688.1:p.Glu52Lys NC_000001.11:15215240:G:A p.(Glu52Lys) NC_000001.11:15215240:G:A p.(Glu52Lys) NC_000001.11:15215240:G:A Identity +NM_012109.3:c.959C>T NP_036241.1:p.Pro320Leu NC_000019.10:18620465:C:T p.(Pro320Leu) NC_000019.10:18620465:C:T p.(Pro320Leu) NC_000019.10:18620465:C:T Identity +NM_182532.3:c.181G>T NP_872338.1:p.Gly61Cys NC_000001.11:54986261:G:T p.(Gly61Cys) NC_000001.11:54986261:G:T p.(Gly61Cys) NC_000001.11:54986261:G:T Identity +NM_001347031.2:c.98C>G NP_001333960.1:p.Ser33Trp NC_000015.10:43133899:C:G p.(Ser33Trp) NC_000015.10:43133899:C:G p.(Ser33Trp) NC_000015.10:43133899:C:G Identity +NM_001193531.2:c.244A>G NP_001180460.1:p.Asn82Asp NC_000012.12:111943335:T:C p.(Asn82Asp) NC_000012.12:111943335:T:C p.(Asn82Asp) NC_000012.12:111943335:T:C Identity +NM_001688.5:c.626G>A NP_001679.2:p.Arg209Gln NC_000001.11:111459568:G:A p.(Arg209Gln) NC_000001.11:111459568:G:A p.(Arg209Gln) NC_000001.11:111459568:G:A Identity +NM_001003785.2:c.216G>T NP_001003785.1:p.Lys72Asn NC_000017.11:75042183:C:A p.(Lys72Asn) NC_000017.11:75042183:C:A p.(Lys72Asn) NC_000017.11:75042183:C:A Identity +NM_001130924.3:c.1316G>A NP_001124396.2:p.Arg439Gln NC_000001.11:9607711:G:A p.(Arg439Gln) NC_000001.11:9607711:G:A p.(Arg439Gln) NC_000001.11:9607711:G:A Identity +NM_001697.3:c.25C>T NP_001688.1:p.Leu9Phe NC_000021.9:33915738:G:A p.(Leu9Phe) NC_000021.9:33915738:G:A p.(Leu9Phe) NC_000021.9:33915738:G:A Identity +NM_001010923.3:c.1802C>T NP_001010923.1:p.Ala601Val NC_000006.12:127719779:G:A p.(Ala601Val) NC_000006.12:127719779:G:A p.(Ala601Val) NC_000006.12:127719779:G:A Identity +NM_001363879.1:c.2485A>G NP_001350808.1:p.Ile829Val NC_000003.12:69029932:T:C p.(Ile829Val) NC_000003.12:69029932:T:C p.(Ile829Val) NC_000003.12:69029932:T:C Identity +NM_001385678.1:c.698G>A NP_001372607.1:p.Cys233Tyr NC_000019.10:4817637:C:T p.(Cys233Tyr) NC_000019.10:4817637:C:T p.(Cys233Tyr) NC_000019.10:4817637:C:T Identity +NM_001428056.1:c.2534T>A NP_001414985.1:p.Val845Glu NC_000021.9:18294356:A:T p.(Val845Glu) NC_000021.9:18294356:A:T p.(Val845Glu) NC_000021.9:18294356:A:T Identity +NM_001410991.1:c.2977G>A NP_001397920.1:p.Val993Ile NC_000009.12:115073839:C:T p.(Val993Ile) NC_000009.12:115073839:C:T p.(Val993Ile) NC_000009.12:115073839:C:T Identity +NM_018279.4:c.871G>A NP_060749.2:p.Val291Met NC_000012.12:71700854:G:A p.(Val291Met) NC_000012.12:71700854:G:A p.(Val291Met) NC_000012.12:71700854:G:A Identity +NM_139172.3:c.340G>A NP_631911.1:p.Gly114Ser NC_000019.10:55378008:G:A p.(Gly114Ser) NC_000019.10:55378008:G:A p.(Gly114Ser) NC_000019.10:55378008:G:A Identity +NM_001003682.4:c.562A>T NP_001003682.1:p.Ile188Phe NC_000001.11:29121266:T:A p.(Ile188Phe) NC_000001.11:29121266:T:A p.(Ile188Phe) NC_000001.11:29121266:T:A Identity +NM_001204210.2:c.365G>A NP_001191139.1:p.Ser122Asn NC_000017.11:78234685:G:A p.(Ser122Asn) NC_000017.11:78234685:G:A p.(Ser122Asn) NC_000017.11:78234685:G:A Identity +NM_001289000.2:c.674G>A NP_001275929.1:p.Arg225Gln NC_000022.11:37089739:C:T p.(Arg225Gln) NC_000022.11:37089739:C:T p.(Arg225Gln) NC_000022.11:37089739:C:T Identity +NM_001284333.3:c.1463dup NP_001271262.1:p.Ala489fs NC_000017.11:62586162:T:TT p.(Ala489SerfsTer9) NC_000017.11:62586162:T:TT p.(Ala489SerfsTer9) ERR:SPDI Analogous +NM_003268.6:c.2219G>A NP_003259.2:p.Arg740His NC_000001.11:223110812:C:T p.(Arg740His) NC_000001.11:223110812:C:T p.(Arg740His) NC_000001.11:223110812:C:T Identity +NM_001328635.2:c.2729G>A NP_001315564.1:p.Arg910Lys NC_000001.11:175330138:C:T p.(Arg910Lys) NC_000001.11:175330138:C:T p.(Arg910Lys) NC_000001.11:175330138:C:T Identity +NM_001385642.1:c.919G>A NP_001372571.1:p.Val307Met NC_000019.10:2415710:G:A p.(Val307Met) NC_000019.10:2415710:G:A p.(Val307Met) NC_000019.10:2415710:G:A Identity +NM_001385642.1:c.1835C>T NP_001372571.1:p.Thr612Ile NC_000019.10:2422229:C:T p.(Thr612Ile) NC_000019.10:2422229:C:T p.(Thr612Ile) NC_000019.10:2422229:C:T Identity +NM_001385642.1:c.1501G>C NP_001372571.1:p.Val501Leu NC_000019.10:2421895:G:C p.(Val501Leu) NC_000019.10:2421895:G:C p.(Val501Leu) NC_000019.10:2421895:G:C Identity +NM_001320321.2:c.1285A>G NP_001307250.1:p.Thr429Ala NC_000012.12:82985995:A:G p.(Thr429Ala) NC_000012.12:82985995:A:G p.(Thr429Ala) NC_000012.12:82985995:A:G Identity +NM_001410991.1:c.625G>A NP_001397920.1:p.Asp209Asn NC_000009.12:115087105:C:T p.(Asp209Asn) NC_000009.12:115087105:C:T p.(Asp209Asn) NC_000009.12:115087105:C:T Identity +NM_001329722.2:c.651G>A NP_001316651.1:p.Met217Ile NC_000001.11:32894876:C:T p.(Met217Ile) NC_000001.11:32894876:C:T p.(Met217Ile) NC_000001.11:32894876:C:T Identity +NM_001288564.2:c.392A>T NP_001275493.1:p.Glu131Val NC_000001.11:201143826:T:A p.(Glu131Val) NC_000001.11:201143826:T:A p.(Glu131Val) NC_000001.11:201143826:T:A Identity +NM_001001396.3:c.1517A>G NP_001001396.1:p.Asn506Ser NC_000001.11:203708063:A:G p.(Asn506Ser) NC_000001.11:203708063:A:G p.(Asn506Ser) NC_000001.11:203708063:A:G Identity +NM_080751.3:c.1935G>T NP_542789.2:p.Met645Ile NC_000020.11:2616198:G:T p.(Met645Ile) NC_000020.11:2616198:G:T p.(Met645Ile) NC_000020.11:2616198:G:T Identity +NM_001251902.3:c.575T>C NP_001238831.1:p.Leu192Pro NC_000017.11:7383856:T:C p.(Leu192Pro) NC_000017.11:7383856:T:C p.(Leu192Pro) NC_000017.11:7383856:T:C Identity +NM_001105248.1:c.1493T>G NP_001098718.1:p.Phe498Cys NC_000016.10:19466088:T:G p.(Phe498Cys) NC_000016.10:19466088:T:G p.(Phe498Cys) NC_000016.10:19466088:T:G Identity +NM_001127198.5:c.1523T>A NP_001120670.1:p.Val508Glu NC_000017.11:78121024:A:T p.(Val508Glu) NC_000017.11:78121024:A:T p.(Val508Glu) NC_000017.11:78121024:A:T Identity +NM_001160364.2:c.1073C>A NP_001153836.1:p.Ser358Tyr NC_000016.10:19044948:C:A p.(Ser358Tyr) NC_000016.10:19044948:C:A p.(Ser358Tyr) NC_000016.10:19044948:C:A Identity +NM_001286527.3:c.2860C>T NP_001273456.2:p.Leu954Phe NC_000016.10:84463663:C:T p.(Leu954Phe) NC_000016.10:84463663:C:T p.(Leu954Phe) NC_000016.10:84463663:C:T Identity +NM_001301036.2:c.439C>T NP_001287965.1:p.Pro147Ser NC_000012.12:94582084:G:A p.(Pro147Ser) NC_000012.12:94582084:G:A p.(Pro147Ser) NC_000012.12:94582084:G:A Identity +NM_001286527.3:c.2638C>A NP_001273456.2:p.Leu880Ile NC_000016.10:84461782:C:A p.(Leu880Ile) NC_000016.10:84461782:C:A p.(Leu880Ile) NC_000016.10:84461782:C:A Identity +NM_001286527.3:c.1057C>G NP_001273456.2:p.Arg353Gly NC_000016.10:84439235:C:G p.(Arg353Gly) NC_000016.10:84439235:C:G p.(Arg353Gly) NC_000016.10:84439235:C:G Identity +NM_001321264.3:c.520G>C NP_001308193.1:p.Val174Leu NC_000017.11:74795103:G:C p.(Val174Leu) NC_000017.11:74795103:G:C p.(Val174Leu) NC_000017.11:74795103:G:C Identity +NM_033396.3:c.1337C>T NP_203754.2:p.Ser446Leu NC_000011.10:57313350:G:A p.(Ser446Leu) NC_000011.10:57313350:G:A p.(Ser446Leu) NC_000011.10:57313350:G:A Identity +NM_001080495.3:c.5251C>T NP_001073964.2:p.Pro1751Ser NC_000007.14:5352037:G:A p.(Pro1751Ser) NC_000007.14:5352037:G:A p.(Pro1751Ser) NC_000007.14:5352037:G:A Identity +NM_001330520.3:c.3383G>A NP_001317449.1:p.Gly1128Asp NC_000016.10:24794573:G:A p.(Gly1128Asp) NC_000016.10:24794573:G:A p.(Gly1128Asp) NC_000016.10:24794573:G:A Identity +NM_001385642.1:c.2492G>C NP_001372571.1:p.Ser831Thr NC_000019.10:2425993:G:C p.(Ser831Thr) NC_000019.10:2425993:G:C p.(Ser831Thr) NC_000019.10:2425993:G:C Identity +NM_001308022.2:c.614C>T NP_001294951.1:p.Pro205Leu NC_000002.12:217886094:G:A p.(Pro205Leu) NC_000002.12:217886094:G:A p.(Pro205Leu) NC_000002.12:217886094:G:A Identity +NM_001131007.2:c.1015A>G NP_001124479.1:p.Thr339Ala NC_000004.12:153583626:A:G p.(Thr339Ala) NC_000004.12:153583626:A:G p.(Thr339Ala) NC_000004.12:153583626:A:G Identity +NM_001136103.3:c.1867G>A NP_001129575.2:p.Val623Met NC_000012.12:128696040:G:A p.(Val623Met) NC_000012.12:128696040:G:A p.(Val623Met) NC_000012.12:128696040:G:A Identity +NM_001251902.3:c.97A>G NP_001238831.1:p.Thr33Ala NC_000017.11:7383022:A:G p.(Thr33Ala) NC_000017.11:7383022:A:G p.(Thr33Ala) NC_000017.11:7383022:A:G Identity +NM_001010938.2:c.2770C>A NP_001010938.2:p.Pro924Thr NC_000003.12:195867599:G:T p.(Pro924Thr) NC_000003.12:195867599:G:T p.(Pro924Thr) NC_000003.12:195867599:G:T Identity +NM_015941.4:c.1252G>A NP_057025.2:p.Val418Met NC_000008.11:53756579:C:T p.(Val418Met) NC_000008.11:53756579:C:T p.(Val418Met) NC_000008.11:53756579:C:T Identity +NM_001304438.2:c.1042C>T NP_001291367.1:p.Arg348Trp NC_000017.11:34628605:C:T p.(Arg348Trp) NC_000017.11:34628605:C:T p.(Arg348Trp) NC_000017.11:34628605:C:T Identity +NM_018342.5:c.208C>T NP_060812.2:p.Leu70Phe NC_000004.12:158215288:C:T p.(Leu70Phe) NC_000004.12:158215288:C:T p.(Leu70Phe) NC_000004.12:158215288:C:T Identity +NM_001322248.2:c.16T>G NP_001309177.1:p.Ser6Ala NC_000001.11:109092894:T:G p.(Ser6Ala) NC_000001.11:109092894:T:G p.(Ser6Ala) NC_000001.11:109092894:T:G Identity +NM_001080495.3:c.3587G>C NP_001073964.2:p.Cys1196Ser NC_000007.14:5371006:C:G p.(Cys1196Ser) NC_000007.14:5371006:C:G p.(Cys1196Ser) NC_000007.14:5371006:C:G Identity +NM_001080495.3:c.2113G>A NP_001073964.2:p.Val705Ile NC_000007.14:5387710:C:T p.(Val705Ile) NC_000007.14:5387710:C:T p.(Val705Ile) NC_000007.14:5387710:C:T Identity +NM_001330520.3:c.4387C>T NP_001317449.1:p.Pro1463Ser NC_000016.10:24806777:C:T p.(Pro1463Ser) NC_000016.10:24806777:C:T p.(Pro1463Ser) NC_000016.10:24806777:C:T Identity +NM_001301163.2:c.1058A>C NP_001288092.1:p.Gln353Pro NC_000007.14:130181684:T:G p.(Gln353Pro) NC_000007.14:130181684:T:G p.(Gln353Pro) NC_000007.14:130181684:T:G Identity +NM_001039763.4:c.1447A>G NP_001034852.3:p.Ile483Val NC_000005.10:110568454:T:C p.(Ile483Val) NC_000005.10:110568454:T:C p.(Ile483Val) NC_000005.10:110568454:T:C Identity +NM_178505.8:c.907C>G NP_848600.2:p.Arg303Gly NC_000010.11:61410521:G:C p.(Arg303Gly) NC_000010.11:61410521:G:C p.(Arg303Gly) NC_000010.11:61410521:G:C Identity +NM_001331210.2:c.733A>G NP_001318139.1:p.Lys245Glu NC_000011.10:129858589:A:G p.(Lys245Glu) NC_000011.10:129858589:A:G p.(Lys245Glu) NC_000011.10:129858589:A:G Identity +NM_001169126.2:c.487G>A NP_001162597.1:p.Val163Met NC_000019.10:4294641:C:T p.(Val163Met) NC_000019.10:4294641:C:T p.(Val163Met) NC_000019.10:4294641:C:T Identity +NM_014547.5:c.719A>G NP_055362.1:p.Asn240Ser NC_000015.10:51896509:A:G p.(Asn240Ser) NC_000015.10:51896509:A:G p.(Asn240Ser) NC_000015.10:51896509:A:G Identity +NM_001693.4:c.101C>T NP_001684.2:p.Ala34Val NC_000008.11:20197506:C:T p.(Ala34Val) NC_000008.11:20197506:C:T p.(Ala34Val) NC_000008.11:20197506:C:T Identity +NM_001385642.1:c.1343A>G NP_001372571.1:p.Gln448Arg NC_000019.10:2418022:A:G p.(Gln448Arg) NC_000019.10:2418022:A:G p.(Gln448Arg) NC_000019.10:2418022:A:G Identity +NM_021156.4:c.896A>C NP_066979.2:p.Gln299Pro NC_000020.11:7982404:T:G p.(Gln299Pro) NC_000020.11:7982404:T:G p.(Gln299Pro) NC_000020.11:7982404:T:G Identity +NM_001167942.1:c.460G>T NP_001161414.1:p.Asp154Tyr NC_000019.10:4652328:G:T p.(Asp154Tyr) NC_000019.10:4652328:G:T p.(Asp154Tyr) NC_000019.10:4652328:G:T Identity +NM_001320218.2:c.254G>A NP_001307147.1:p.Gly85Glu NC_000001.11:198523511:C:T p.(Gly85Glu) NC_000001.11:198523511:C:T p.(Gly85Glu) NC_000001.11:198523511:C:T Identity +NM_001010938.2:c.1123C>T NP_001010938.2:p.Pro375Ser NC_000003.12:195878555:G:A p.(Pro375Ser) NC_000003.12:195878555:G:A p.(Pro375Ser) NC_000003.12:195878555:G:A Identity +NM_033396.3:c.4192G>A NP_203754.2:p.Glu1398Lys NC_000011.10:57308518:C:T p.(Glu1398Lys) NC_000011.10:57308518:C:T p.(Glu1398Lys) NC_000011.10:57308518:C:T Identity +NM_033396.3:c.67G>A NP_203754.2:p.Glu23Lys NC_000011.10:57321818:C:T p.(Glu23Lys) NC_000011.10:57321818:C:T p.(Glu23Lys) NC_000011.10:57321818:C:T Identity +NM_001308022.2:c.3796C>T NP_001294951.1:p.His1266Tyr NC_000002.12:217818184:G:A p.(His1266Tyr) NC_000002.12:217818184:G:A p.(His1266Tyr) NC_000002.12:217818184:G:A Identity +NM_032865.6:c.588C>G NP_116254.4:p.Ser196Arg NC_000017.11:40488820:G:C p.(Ser196Arg) NC_000017.11:40488820:G:C p.(Ser196Arg) NC_000017.11:40488820:G:C Identity +NM_001365276.2:c.4459C>G NP_001352205.1:p.Pro1487Ala NC_000006.12:32073868:G:C p.(Pro1487Ala) NC_000006.12:32073868:G:C p.(Pro1487Ala) NC_000006.12:32073868:G:C Identity +NM_001365276.2:c.4013T>C NP_001352205.1:p.Val1338Ala NC_000006.12:32081396:A:G p.(Val1338Ala) NC_000006.12:32081396:A:G p.(Val1338Ala) NC_000006.12:32081396:A:G Identity +NM_001365276.2:c.4421A>G NP_001352205.1:p.Glu1474Gly NC_000006.12:32073906:T:C p.(Glu1474Gly) NC_000006.12:32073906:T:C p.(Glu1474Gly) NC_000006.12:32073906:T:C Identity +NM_001365276.2:c.812C>A NP_001352205.1:p.Thr271Asn NC_000006.12:32097040:G:T p.(Thr271Asn) NC_000006.12:32097040:G:T p.(Thr271Asn) NC_000006.12:32097040:G:T Identity +NM_001308120.2:c.4120C>T NP_001295049.1:p.Arg1374Cys NC_000014.9:45044835:C:T p.(Arg1374Cys) NC_000014.9:45044835:C:T p.(Arg1374Cys) NC_000014.9:45044835:C:T Identity +NM_001308120.2:c.4576C>T NP_001295049.1:p.Arg1526Cys NC_000014.9:45066593:C:T p.(Arg1526Cys) NC_000014.9:45066593:C:T p.(Arg1526Cys) NC_000014.9:45066593:C:T Identity +NM_001033551.3:c.268A>C NP_001028723.1:p.Ile90Leu NC_000017.11:17884716:T:G p.(Ile90Leu) NC_000017.11:17884716:T:G p.(Ile90Leu) NC_000017.11:17884716:T:G Identity +NM_001128916.2:c.628G>A NP_001122388.1:p.Val210Ile NC_000019.10:44894050:G:A p.(Val210Ile) NC_000019.10:44894050:G:A p.(Val210Ile) NC_000019.10:44894050:G:A Identity +NM_001013630.2:c.1063C>T NP_001013652.1:p.Leu355Phe NC_000001.11:12666573:C:T p.(Leu355Phe) NC_000001.11:12666573:C:T p.(Leu355Phe) NC_000001.11:12666573:C:T Identity +NM_001085347.3:c.421G>A NP_001078816.2:p.Asp141Asn NC_000009.12:127733556:C:T p.(Asp141Asn) NC_000009.12:127733556:C:T p.(Asp141Asn) NC_000009.12:127733556:C:T Identity +NM_022371.4:c.704A>G NP_071766.2:p.Asp235Gly NC_000001.11:179087974:A:G p.(Asp235Gly) NC_000001.11:179087974:A:G p.(Asp235Gly) NC_000001.11:179087974:A:G Identity +NM_001003395.3:c.439G>A NP_001003395.1:p.Glu147Lys NC_000006.12:125262872:G:A p.(Glu147Lys) NC_000006.12:125262872:G:A p.(Glu147Lys) NC_000006.12:125262872:G:A Identity +NM_001001874.3:c.278A>G NP_001001874.2:p.Lys93Arg NC_000009.12:6328872:A:G p.(Lys93Arg) NC_000009.12:6328872:A:G p.(Lys93Arg) NC_000009.12:6328872:A:G Identity +NM_173353.4:c.1086C>G NP_775489.2:p.Ile362Met NC_000012.12:72022415:C:G p.(Ile362Met) NC_000012.12:72022415:C:G p.(Ile362Met) NC_000012.12:72022415:C:G Identity +NM_004295.4:c.1273G>A NP_004286.2:p.Gly425Ser NC_000017.11:28749436:G:A p.(Gly425Ser) NC_000017.11:28749436:G:A p.(Gly425Ser) NC_000017.11:28749436:G:A Identity +NM_001033910.3:c.831A>C NP_001029082.1:p.Lys277Asn NC_000001.11:211369492:A:C p.(Lys277Asn) NC_000001.11:211369492:A:C p.(Lys277Asn) NC_000001.11:211369492:A:C Identity +NM_001321102.2:c.58C>A NP_001308031.1:p.Gln20Lys NC_000002.12:3387680:C:A p.(Gln20Lys) NC_000002.12:3387680:C:A p.(Gln20Lys) NC_000002.12:3387680:C:A Identity +NM_014939.5:c.1195C>G NP_055754.3:p.Pro399Ala NC_000018.10:31908345:G:C p.(Pro399Ala) NC_000018.10:31908345:G:C p.(Pro399Ala) NC_000018.10:31908345:G:C Identity +NM_014939.5:c.3197T>C NP_055754.3:p.Ile1066Thr NC_000018.10:31855798:A:G p.(Ile1066Thr) NC_000018.10:31855798:A:G p.(Ile1066Thr) NC_000018.10:31855798:A:G Identity +NM_001317747.2:c.250C>T NP_001304676.1:p.Arg84Cys NC_000003.12:108853676:C:T p.(Arg84Cys) NC_000003.12:108853676:C:T p.(Arg84Cys) NC_000003.12:108853676:C:T Identity +NM_001317747.2:c.263G>A NP_001304676.1:p.Arg88Lys NC_000003.12:108853689:G:A p.(Arg88Lys) NC_000003.12:108853689:G:A p.(Arg88Lys) NC_000003.12:108853689:G:A Identity +NM_001416202.1:c.1462C>T NP_001403131.1:p.Arg488Trp NC_000012.12:53059102:C:T p.(Arg488Trp) NC_000012.12:53059102:C:T p.(Arg488Trp) NC_000012.12:53059102:C:T Identity +NM_001365276.2:c.6346A>T NP_001352205.1:p.Thr2116Ser NC_000006.12:32067858:T:A p.(Thr2116Ser) NC_000006.12:32067858:T:A p.(Thr2116Ser) NC_000006.12:32067858:T:A Identity +NM_001067.4:c.2204A>G NP_001058.2:p.Lys735Arg NC_000017.11:40404230:T:C p.(Lys735Arg) NC_000017.11:40404230:T:C p.(Lys735Arg) NC_000017.11:40404230:T:C Identity +NM_001128228.3:c.919A>T NP_001121700.2:p.Met307Leu NC_000009.12:137199792:T:A p.(Met307Leu) NC_000009.12:137199792:T:A p.(Met307Leu) NC_000009.12:137199792:T:A Identity +NM_012217.3:c.664G>A NP_036349.1:p.Glu222Lys NC_000016.10:1258201:G:A p.(Glu222Lys) NC_000016.10:1258201:G:A p.(Glu222Lys) NC_000016.10:1258201:G:A Identity +NM_001194986.2:c.1121C>T NP_001181915.1:p.Ser374Leu NC_000001.11:47775397:G:A p.(Ser374Leu) NC_000001.11:47775397:G:A p.(Ser374Leu) NC_000001.11:47775397:G:A Identity +NM_001139490.1:c.308G>C NP_001132962.1:p.Arg103Thr NC_000002.12:238325923:G:C p.(Arg103Thr) NC_000002.12:238325923:G:C p.(Arg103Thr) NC_000002.12:238325923:G:C Identity +NM_145214.3:c.301G>A NP_660215.1:p.Ala101Thr NC_000001.11:228406260:C:T p.(Ala101Thr) NC_000001.11:228406260:C:T p.(Ala101Thr) NC_000001.11:228406260:C:T Identity +NM_001024940.3:c.382C>T NP_001020111.1:p.Arg128Trp NC_000001.11:228414690:G:A p.(Arg128Trp) NC_000001.11:228414690:G:A p.(Arg128Trp) NC_000001.11:228414690:G:A Identity +NM_001330382.2:c.110G>A NP_001317311.1:p.Arg37His NC_000011.10:120128406:C:T p.(Arg37His) NC_000011.10:120128406:C:T p.(Arg37His) NC_000011.10:120128406:C:T Identity +NM_001248006.2:c.848C>T NP_001234935.1:p.Ala283Val NC_000011.10:6456877:G:A p.(Ala283Val) NC_000011.10:6456877:G:A p.(Ala283Val) NC_000011.10:6456877:G:A Identity +NM_001005207.5:c.1567G>A NP_001005207.1:p.Val523Ile NC_000017.11:59047782:C:T p.(Val523Ile) NC_000017.11:59047782:C:T p.(Val523Ile) NC_000017.11:59047782:C:T Identity +NM_001321006.2:c.533A>T NP_001307935.1:p.Asp178Val NC_000010.11:17157551:T:A p.(Asp178Val) NC_000010.11:17157551:T:A p.(Asp178Val) NC_000010.11:17157551:T:A Identity +NM_001184.4:c.529C>G NP_001175.2:p.Arg177Gly NC_000003.12:142562872:G:C p.(Arg177Gly) NC_000003.12:142562872:G:C p.(Arg177Gly) NC_000003.12:142562872:G:C Identity +NM_001281450.1:c.111G>T NP_001268379.1:p.Lys37Asn NC_000007.14:73324676:C:A p.(Lys37Asn) NC_000007.14:73324676:C:A p.(Lys37Asn) NC_000007.14:73324676:C:A Identity +NM_001145635.2:c.1315G>A NP_001139107.1:p.Val439Ile NC_000001.11:117115672:C:T p.(Val439Ile) NC_000001.11:117115672:C:T p.(Val439Ile) NC_000001.11:117115672:C:T Identity +NM_001004342.5:c.900C>A NP_001004342.3:p.Phe300Leu NC_000001.11:231163868:C:A p.(Phe300Leu) NC_000001.11:231163868:C:A p.(Phe300Leu) NC_000001.11:231163868:C:A Identity +NM_001008274.4:c.1175A>C NP_001008275.2:p.Glu392Ala NC_000016.10:31224495:A:C p.(Glu392Ala) NC_000016.10:31224495:A:C p.(Glu392Ala) NC_000016.10:31224495:A:C Identity +NM_001146162.1:c.1198A>T NP_001139634.1:p.Ile400Phe NC_000011.10:89717716:A:T p.(Ile400Phe) NC_000011.10:89717716:A:T p.(Ile400Phe) NC_000011.10:89717716:A:T Identity +NM_007118.4:c.7091A>T NP_009049.2:p.Asp2364Val NC_000005.10:14487718:A:T p.(Asp2364Val) NC_000005.10:14487718:A:T p.(Asp2364Val) NC_000005.10:14487718:A:T Identity +NM_001039141.3:c.5998G>A NP_001034230.1:p.Val2000Met NC_000022.11:37757922:G:A p.(Val2000Met) NC_000022.11:37757922:G:A p.(Val2000Met) NC_000022.11:37757922:G:A Identity +NM_001134665.3:c.400C>T NP_001128137.1:p.Arg134Trp NC_000004.12:99557364:G:A p.(Arg134Trp) NC_000004.12:99557364:G:A p.(Arg134Trp) NC_000004.12:99557364:G:A Identity +NM_001031712.3:c.689T>C NP_001026882.2:p.Leu230Pro NC_000006.12:126008400:T:C p.(Leu230Pro) NC_000006.12:126008400:T:C p.(Leu230Pro) NC_000006.12:126008400:T:C Identity +NM_007118.4:c.4726A>G NP_009049.2:p.Ile1576Val NC_000005.10:14405856:A:G p.(Ile1576Val) NC_000005.10:14405856:A:G p.(Ile1576Val) NC_000005.10:14405856:A:G Identity +NM_017819.4:c.413C>T NP_060289.2:p.Thr138Met NC_000003.12:101565193:C:T p.(Thr138Met) NC_000003.12:101565193:C:T p.(Thr138Met) NC_000003.12:101565193:C:T Identity +NM_001085347.3:c.785C>T NP_001078816.2:p.Pro262Leu NC_000009.12:127732214:G:A p.(Pro262Leu) NC_000009.12:127732214:G:A p.(Pro262Leu) NC_000009.12:127732214:G:A Identity +NM_014729.3:c.713G>A NP_055544.1:p.Arg238Gln NC_000008.11:58838291:C:T p.(Arg238Gln) NC_000008.11:58838291:C:T p.(Arg238Gln) NC_000008.11:58838291:C:T Identity +NM_001080430.4:c.1642G>A NP_001073899.2:p.Gly548Arg NC_000016.10:52439313:C:T p.(Gly548Arg) NC_000016.10:52439313:C:T p.(Gly548Arg) NC_000016.10:52439313:C:T Identity +NM_000546.6:c.218T>A NP_000537.3:p.Val73Glu NC_000017.11:7676150:A:T p.(Val73Glu) NC_000017.11:7676150:A:T p.(Val73Glu) NC_000017.11:7676150:A:T Identity +NM_024837.4:c.1780C>T NP_079113.2:p.Arg594Trp NC_000015.10:49920388:G:A p.(Arg594Trp) NC_000015.10:49920388:G:A p.(Arg594Trp) NC_000015.10:49920388:G:A Identity +NM_012471.3:c.29A>G NP_036603.1:p.Asn10Ser NC_000023.11:111952391:T:C p.(Asn10Ser) NC_000023.11:111952391:T:C p.(Asn10Ser) NC_000023.11:111952391:T:C Identity +NM_001320350.2:c.415G>T NP_001307279.2:p.Val139Leu NC_000021.9:44364273:G:T p.(Val139Leu) NC_000021.9:44364273:G:T p.(Val139Leu) NC_000021.9:44364273:G:T Identity +NM_001301212.2:c.680C>G NP_001288141.1:p.Thr227Ser NC_000015.10:50637573:G:C p.(Thr227Ser) NC_000015.10:50637573:G:C p.(Thr227Ser) NC_000015.10:50637573:G:C Identity +NM_001330588.2:c.1909G>C NP_001317517.1:p.Ala637Pro NC_000013.11:102638310:G:C p.(Ala637Pro) NC_000013.11:102638310:G:C p.(Ala637Pro) NC_000013.11:102638310:G:C Identity +NM_001128228.3:c.1397C>T NP_001121700.2:p.Ala466Val NC_000009.12:137199314:G:A p.(Ala466Val) NC_000009.12:137199314:G:A p.(Ala466Val) NC_000009.12:137199314:G:A Identity +NM_018646.6:c.1096C>T NP_061116.5:p.Arg366Trp NC_000007.14:142875613:G:A p.(Arg366Trp) NC_000007.14:142875613:G:A p.(Arg366Trp) NC_000007.14:142875613:G:A Identity +NM_001184.4:c.7496T>G NP_001175.2:p.Phe2499Cys NC_000003.12:142458964:A:C p.(Phe2499Cys) NC_000003.12:142458964:A:C p.(Phe2499Cys) NC_000003.12:142458964:A:C Identity +NM_001184.4:c.1834A>G NP_001175.2:p.Thr612Ala NC_000003.12:142558674:T:C p.(Thr612Ala) NC_000003.12:142558674:T:C p.(Thr612Ala) NC_000003.12:142558674:T:C Identity +NM_207346.3:c.1448C>A NP_997229.2:p.Pro483Gln NC_000017.11:75524278:C:A p.(Pro483Gln) NC_000017.11:75524278:C:A p.(Pro483Gln) NC_000017.11:75524278:C:A Identity +NM_001363889.2:c.2344C>A NP_001350818.1:p.Gln782Lys NC_000003.12:133638036:G:T p.(Gln782Lys) NC_000003.12:133638036:G:T p.(Gln782Lys) NC_000003.12:133638036:G:T Identity +NM_001085347.3:c.480C>T NP_001078816.2:p.Phe160= NC_000009.12:127733497:G:A p.(Phe160=) NC_000009.12:127733497:G:A p.(Phe160=) NC_000009.12:127733497:G:A Identity +NM_001126240.3:c.451G>A NP_001119712.1:p.Gly151Arg NC_000001.11:3722188:G:A p.(Gly151Arg) NC_000001.11:3722188:G:A p.(Gly151Arg) NC_000001.11:3722188:G:A Identity +NM_001308210.2:c.1557G>C NP_001295139.1:p.Glu519Asp NC_000018.10:75286963:G:C p.(Glu519Asp) NC_000018.10:75286963:G:C p.(Glu519Asp) NC_000018.10:75286963:G:C Identity +NM_021733.2:c.755C>T NP_068379.1:p.Pro252Leu NC_000019.10:49746706:G:A p.(Pro252Leu) NC_000019.10:49746706:G:A p.(Pro252Leu) NC_000019.10:49746706:G:A Identity +NM_198485.4:c.145G>A NP_940887.1:p.Glu49Lys NC_000003.12:189207528:G:A p.(Glu49Lys) NC_000003.12:189207528:G:A p.(Glu49Lys) NC_000003.12:189207528:G:A Identity +NM_001297658.2:c.533A>G NP_001284587.1:p.Asn178Ser NC_000011.10:2403165:A:G p.(Asn178Ser) NC_000011.10:2403165:A:G p.(Asn178Ser) NC_000011.10:2403165:A:G Identity +NM_001145418.2:c.5966C>T NP_001138890.1:p.Ala1989Val NC_000022.11:27983700:G:A p.(Ala1989Val) NC_000022.11:27983700:G:A p.(Ala1989Val) NC_000022.11:27983700:G:A Identity +NM_001145418.2:c.6134C>G NP_001138890.1:p.Thr2045Ser NC_000022.11:27983532:G:C p.(Thr2045Ser) NC_000022.11:27983532:G:C p.(Thr2045Ser) NC_000022.11:27983532:G:C Identity +NM_001001894.3:c.2371G>T NP_001001894.1:p.Asp791Tyr NC_000021.9:37151986:G:T p.(Asp791Tyr) NC_000021.9:37151986:G:T p.(Asp791Tyr) NC_000021.9:37151986:G:T Identity +NM_001184.4:c.893T>C NP_001175.2:p.Leu298Pro NC_000003.12:142562508:A:G p.(Leu298Pro) NC_000003.12:142562508:A:G p.(Leu298Pro) NC_000003.12:142562508:A:G Identity +NM_001205296.2:c.248G>A NP_001192225.1:p.Arg83Gln NC_000009.12:132396495:C:T p.(Arg83Gln) NC_000009.12:132396495:C:T p.(Arg83Gln) NC_000009.12:132396495:C:T Identity +NM_001303457.2:c.2609G>T NP_001290386.1:p.Cys870Phe NC_000020.11:38002670:C:A p.(Cys870Phe) NC_000020.11:38002670:C:A p.(Cys870Phe) NC_000020.11:38002670:C:A Identity +NM_001102401.4:c.1264T>C NP_001095871.1:p.Ser422Pro NC_000008.11:33500485:A:G p.(Ser422Pro) NC_000008.11:33500485:A:G p.(Ser422Pro) NC_000008.11:33500485:A:G Identity +NM_006001.3:c.923G>A NP_005992.1:p.Arg308His NC_000013.11:19177059:C:T p.(Arg308His) NC_000013.11:19177059:C:T p.(Arg308His) NC_000013.11:19177059:C:T Identity +NM_001160408.2:c.1162G>C NP_001153880.1:p.Val388Leu NC_000012.12:2938251:G:C p.(Val388Leu) NC_000012.12:2938251:G:C p.(Val388Leu) NC_000012.12:2938251:G:C Identity +NM_001185059.2:c.335A>G NP_001171988.1:p.Asn112Ser NC_000009.12:86352864:T:C p.(Asn112Ser) NC_000009.12:86352864:T:C p.(Asn112Ser) NC_000009.12:86352864:T:C Identity +NM_003328.3:c.1541C>T NP_003319.2:p.Ala514Val NC_000004.12:48067679:G:A p.(Ala514Val) NC_000004.12:48067679:G:A p.(Ala514Val) NC_000004.12:48067679:G:A Identity +NM_001376857.1:c.1159C>T NP_001363786.1:p.Leu387Phe NC_000001.11:32193207:C:T p.(Leu387Phe) NC_000001.11:32193207:C:T p.(Leu387Phe) NC_000001.11:32193207:C:T Identity +NM_001313972.2:c.839T>C NP_001300901.1:p.Met280Thr NC_000001.11:145994151:A:G p.(Met280Thr) NC_000001.11:145994151:A:G p.(Met280Thr) NC_000001.11:145994151:A:G Identity +NM_001173513.3:c.1711C>A NP_001166984.1:p.Gln571Lys NC_000003.12:126608542:G:T p.(Gln571Lys) NC_000003.12:126608542:G:T p.? NC_000003.12:126608542:G:T Identity +NM_018264.4:c.250G>A NP_060734.2:p.Gly84Ser NC_000007.14:66998930:G:A p.(Gly84Ser) NC_000007.14:66998930:G:A p.(Gly84Ser) NC_000007.14:66998930:G:A Identity +NM_001008224.3:c.3531G>C NP_001008225.1:p.Lys1177Asn NC_000015.10:70667113:C:G p.(Lys1177Asn) NC_000015.10:70667113:C:G p.(Lys1177Asn) NC_000015.10:70667113:C:G Identity +NM_016172.3:c.470T>C NP_057256.2:p.Val157Ala NC_000009.12:135946342:A:G p.(Val157Ala) NC_000009.12:135946342:A:G p.(Val157Ala) NC_000009.12:135946342:A:G Identity +NM_006398.4:c.265C>T NP_006389.2:p.Pro89Ser NC_000006.12:29556112:G:A p.(Pro89Ser) NC_000006.12:29556112:G:A p.(Pro89Ser) NC_000006.12:29556112:G:A Identity +NM_001204077.2:c.481A>G NP_001191006.1:p.Asn161Asp NC_000011.10:118371585:A:G p.(Asn161Asp) NC_000011.10:118371585:A:G p.(Asn161Asp) NC_000011.10:118371585:A:G Identity +NM_005879.3:c.865G>A NP_005870.2:p.Asp289Asn NC_000003.12:49839790:C:T p.(Asp289Asn) NC_000003.12:49839790:C:T p.(Asp289Asn) NC_000003.12:49839790:C:T Identity +NM_012288.4:c.946C>T NP_036420.1:p.Arg316Trp NC_000006.12:52504683:G:A p.(Arg316Trp) NC_000006.12:52504683:G:A p.(Arg316Trp) NC_000006.12:52504683:G:A Identity +NM_001261450.3:c.746A>G NP_001248379.1:p.His249Arg NC_000009.12:131525100:T:C p.(His249Arg) NC_000009.12:131525100:T:C p.(His249Arg) NC_000009.12:131525100:T:C Identity +NM_001207047.3:c.2393A>G NP_001193976.1:p.Asn798Ser NC_000020.11:3582330:A:G p.(Asn798Ser) NC_000020.11:3582330:A:G p.(Asn798Ser) NC_000020.11:3582330:A:G Identity +NM_015323.5:c.557A>G NP_056138.1:p.His186Arg NC_000006.12:96528592:A:G p.(His186Arg) NC_000006.12:96528592:A:G p.(His186Arg) NC_000006.12:96528592:A:G Identity +NM_003358.3:c.1095G>C NP_003349.1:p.Leu365Phe NC_000009.12:111932906:G:C p.(Leu365Phe) NC_000009.12:111932906:G:C p.(Leu365Phe) NC_000009.12:111932906:G:C Identity +NM_020120.4:c.1369G>A NP_064505.1:p.Ala457Thr NC_000002.12:128129170:G:A p.(Ala457Thr) NC_000002.12:128129170:G:A p.(Ala457Thr) NC_000002.12:128129170:G:A Identity +NM_001276282.4:c.778T>G NP_001263211.1:p.Tyr260Asp NC_000010.11:115129483:T:G p.(Tyr260Asp) NC_000010.11:115129483:T:G p.(Tyr260Asp) NC_000010.11:115129483:T:G Identity +NM_001080421.3:c.4903C>G NP_001073890.2:p.Leu1635Val NC_000019.10:17606262:G:C p.(Leu1635Val) NC_000019.10:17606262:G:C p.(Leu1635Val) NC_000019.10:17606262:G:C Identity +NM_001330353.2:c.268A>G NP_001317282.1:p.Ile90Val NC_000002.12:98610026:A:G p.(Ile90Val) NC_000002.12:98610026:A:G p.(Ile90Val) NC_000002.12:98610026:A:G Identity +NM_001346218.2:c.1509C>G NP_001333147.1:p.Phe503Leu NC_000014.9:93540815:C:G p.(Phe503Leu) NC_000014.9:93540815:C:G p.(Phe503Leu) NC_000014.9:93540815:C:G Identity +NM_001371986.1:c.2476A>T NP_001358915.1:p.Asn826Tyr NC_000002.12:209826050:A:T p.(Asn826Tyr) NC_000002.12:209826050:A:T p.(Asn826Tyr) NC_000002.12:209826050:A:T Identity +NM_001281443.2:c.106G>A NP_001268372.1:p.Ala36Thr NC_000019.10:35668474:G:A p.(Ala36Thr) NC_000019.10:35668474:G:A p.(Ala36Thr) NC_000019.10:35668474:G:A Identity +NM_006953.4:c.431G>T NP_008884.1:p.Trp144Leu NC_000022.11:45287393:G:T p.(Trp144Leu) NC_000022.11:45287393:G:T p.(Trp144Leu) NC_000022.11:45287393:G:T Identity +NM_001314021.2:c.2411T>C NP_001300950.1:p.Met804Thr NC_000001.11:229637023:T:C p.(Met804Thr) NC_000001.11:229637023:T:C p.(Met804Thr) NC_000001.11:229637023:T:C Identity +NM_001321150.2:c.83C>T NP_001308079.1:p.Ala28Val NC_000019.10:35269465:C:T p.(Ala28Val) NC_000019.10:35269465:C:T p.(Ala28Val) NC_000019.10:35269465:C:T Identity +NM_001297703.2:c.1099C>G NP_001284632.1:p.Arg367Gly NC_000019.10:17256649:G:C p.(Arg367Gly) NC_000019.10:17256649:G:C p.(Arg367Gly) NC_000019.10:17256649:G:C Identity +NM_003940.3:c.43G>C NP_003931.2:p.Gly15Arg NC_000003.12:179653267:G:C p.(Gly15Arg) NC_000003.12:179653267:G:C p.(Gly15Arg) NC_000003.12:179653267:G:C Identity +NM_001318229.2:c.1612G>A NP_001305158.1:p.Ala538Thr NC_000007.14:105614073:C:T p.(Ala538Thr) NC_000007.14:105614073:C:T p.(Ala538Thr) NC_000007.14:105614073:C:T Identity +NM_001318229.2:c.784T>C NP_001305158.1:p.Tyr262His NC_000007.14:105620284:A:G p.(Tyr262His) NC_000007.14:105620284:A:G p.(Tyr262His) NC_000007.14:105620284:A:G Identity +NM_001318229.2:c.44C>T NP_001305158.1:p.Ser15Leu NC_000007.14:105643007:G:A p.(Ser15Leu) NC_000007.14:105643007:G:A p.(Ser15Leu) NC_000007.14:105643007:G:A Identity +NM_001387221.1:c.3883A>G NP_001374150.1:p.Lys1295Glu NC_000016.10:23068101:T:C p.(Lys1295Glu) NC_000016.10:23068101:T:C p.(Lys1295Glu) NC_000016.10:23068101:T:C Identity +NM_030934.5:c.160G>T NP_112196.3:p.Ala54Ser NC_000001.11:185156552:C:A p.(Ala54Ser) NC_000001.11:185156552:C:A p.(Ala54Ser) NC_000001.11:185156552:C:A Identity +NM_001184.4:c.7850A>C NP_001175.2:p.Glu2617Ala NC_000003.12:142449513:T:G p.(Glu2617Ala) NC_000003.12:142449513:T:G p.(Glu2617Ala) NC_000003.12:142449513:T:G Identity +NM_016113.5:c.475G>A NP_057197.2:p.Asp159Asn NC_000017.11:16422738:G:A p.(Asp159Asn) NC_000017.11:16422738:G:A p.(Asp159Asn) NC_000017.11:16422738:G:A Identity +NM_001290325.1:c.1735A>C NP_001277254.1:p.Ser579Arg NC_000004.12:143213710:A:C p.(Ser579Arg) NC_000004.12:143213710:A:C p.(Ser579Arg) NC_000004.12:143213710:A:C Identity +NM_001258205.2:c.1463T>A NP_001245134.1:p.Met488Lys NC_000017.11:3528064:A:T p.(Met488Lys) NC_000017.11:3528064:A:T p.(Met488Lys) NC_000017.11:3528064:A:T Identity +NM_000368.5:c.662A>G NP_000359.1:p.Lys221Arg NC_000009.12:132921819:T:C p.(Lys221Arg) NC_000009.12:132921819:T:C p.(Lys221Arg) NC_000009.12:132921819:T:C Identity +NM_001184.4:c.3443A>G NP_001175.2:p.Lys1148Arg NC_000003.12:142542671:T:C p.(Lys1148Arg) NC_000003.12:142542671:T:C p.(Lys1148Arg) NC_000003.12:142542671:T:C Identity +NM_001243797.2:c.58A>G NP_001230726.1:p.Lys20Glu NC_000013.11:44434828:T:C p.(Lys20Glu) NC_000013.11:44434828:T:C p.(Lys20Glu) NC_000013.11:44434828:T:C Identity +NM_020856.4:c.2657C>T NP_065907.2:p.Thr886Met NC_000019.10:31277135:G:A p.(Thr886Met) NC_000019.10:31277135:G:A p.(Thr886Met) NC_000019.10:31277135:G:A Identity +NM_001080509.3:c.5C>T NP_001073978.1:p.Ala2Val NC_000012.12:30953995:C:T p.(Ala2Val) NC_000012.12:30953995:C:T p.(Ala2Val) NC_000012.12:30953995:C:T Identity +NM_001001410.3:c.395C>T NP_001001410.1:p.Thr132Ile NC_000016.10:1350937:G:A p.(Thr132Ile) NC_000016.10:1350937:G:A p.(Thr132Ile) NC_000016.10:1350937:G:A Identity +NM_053006.5:c.208G>A NP_443732.3:p.Gly70Ser NC_000022.11:19131606:G:A p.(Gly70Ser) NC_000022.11:19131606:G:A p.(Gly70Ser) NC_000022.11:19131606:G:A Identity +NM_001371395.1:c.685G>A NP_001358324.1:p.Gly229Ser NC_000004.12:119260515:G:A p.(Gly229Ser) NC_000004.12:119260515:G:A p.(Gly229Ser) NC_000004.12:119260515:G:A Identity +NM_173500.4:c.3481C>T NP_775771.3:p.Pro1161Ser NC_000015.10:42746048:G:A p.(Pro1161Ser) NC_000015.10:42746048:G:A p.(Pro1161Ser) NC_000015.10:42746048:G:A Identity +NM_001271420.2:c.371A>G NP_001258349.1:p.Asn124Ser NC_000017.11:16025031:A:G p.(Asn124Ser) NC_000017.11:16025031:A:G p.(Asn124Ser) NC_000017.11:16025031:A:G Identity +NM_001105513.3:c.2392G>A NP_001098983.2:p.Val798Ile NC_000003.12:39131047:G:A p.(Val798Ile) NC_000003.12:39131047:G:A p.(Val798Ile) NC_000003.12:39131047:G:A Identity +NM_021732.3:c.440A>G NP_068378.2:p.His147Arg NC_000010.11:97677872:T:C p.(His147Arg) NC_000010.11:97677872:T:C p.(His147Arg) NC_000010.11:97677872:T:C Identity +NM_001013579.3:c.682C>G NP_001013597.1:p.Gln228Glu NC_000023.11:70239783:C:G p.(Gln228Glu) NC_000023.11:70239783:C:G p.(Gln228Glu) NC_000023.11:70239783:C:G Identity +NM_144696.6:c.693G>A NP_653297.3:p.Met231Ile NC_000001.11:179383495:G:A p.(Met231Ile) NC_000001.11:179383495:G:A p.(Met231Ile) NC_000001.11:179383495:G:A Identity +NM_173857.3:c.323C>T NP_776256.2:p.Thr108Met NC_000019.10:53267342:G:A p.(Thr108Met) NC_000019.10:53267342:G:A p.(Thr108Met) NC_000019.10:53267342:G:A Identity +NM_001018037.2:c.3053A>T NP_001018047.1:p.Glu1018Val NC_000009.12:77282208:A:T p.(Glu1018Val) NC_000009.12:77282208:A:T p.(Glu1018Val) NC_000009.12:77282208:A:T Identity +NM_015378.4:c.7295G>A NP_056193.2:p.Arg2432His NC_000001.11:12318217:G:A p.(Arg2432His) NC_000001.11:12318217:G:A p.(Arg2432His) NC_000001.11:12318217:G:A Identity +NM_013265.4:c.821C>G NP_037397.2:p.Ala274Gly NC_000011.10:65108291:C:G p.(Ala274Gly) NC_000011.10:65108291:C:G p.(Ala274Gly) NC_000011.10:65108291:C:G Identity +NM_001130480.2:c.311A>C NP_001123952.1:p.Tyr104Ser NC_000002.12:58086392:A:C p.(Tyr104Ser) NC_000002.12:58086392:A:C p.(Tyr104Ser) NC_000002.12:58086392:A:C Identity +NM_001345864.2:c.2728G>T NP_001332793.1:p.Ala910Ser NC_000002.12:98312220:G:T p.(Ala910Ser) NC_000002.12:98312220:G:T p.(Ala910Ser) NC_000002.12:98312220:G:T Identity +NM_001345864.2:c.1946T>C NP_001332793.1:p.Met649Thr NC_000002.12:98270812:T:C p.(Met649Thr) NC_000002.12:98270812:T:C p.(Met649Thr) NC_000002.12:98270812:T:C Identity +NM_001320373.3:c.1771G>A NP_001307302.1:p.Asp591Asn NC_000003.12:184239720:G:A p.(Asp591Asn) NC_000003.12:184239720:G:A p.(Asp591Asn) NC_000003.12:184239720:G:A Identity +NM_025258.3:c.2255C>G NP_079534.2:p.Ser752Trp NC_000006.12:31766313:G:C p.(Ser752Trp) NC_000006.12:31766313:G:C p.(Ser752Trp) NC_000006.12:31766313:G:C Identity +NM_003941.4:c.892G>A NP_003932.3:p.Gly298Ser NC_000007.14:123692801:C:T p.(Gly298Ser) NC_000007.14:123692801:C:T p.(Gly298Ser) NC_000007.14:123692801:C:T Identity +NM_020830.5:c.917C>T NP_065881.1:p.Thr306Met NC_000002.12:223884663:G:A p.(Thr306Met) NC_000002.12:223884663:G:A p.(Thr306Met) NC_000002.12:223884663:G:A Identity +NM_014991.6:c.2461G>T NP_055806.2:p.Val821Phe NC_000004.12:84803435:C:A p.(Val821Phe) NC_000004.12:84803435:C:A p.(Val821Phe) NC_000004.12:84803435:C:A Identity +NM_014991.6:c.4832A>G NP_055806.2:p.Glu1611Gly NC_000004.12:84772851:T:C p.(Glu1611Gly) NC_000004.12:84772851:T:C p.(Glu1611Gly) NC_000004.12:84772851:T:C Identity +NM_001184.4:c.4159G>A NP_001175.2:p.Val1387Ile NC_000003.12:142522834:C:T p.(Val1387Ile) NC_000003.12:142522834:C:T p.(Val1387Ile) NC_000003.12:142522834:C:T Identity +NM_001410948.1:c.223C>T NP_001397877.1:p.Pro75Ser NC_000006.12:167340341:C:T p.(Pro75Ser) NC_000006.12:167340341:C:T p.(Pro75Ser) NC_000006.12:167340341:C:T Identity +NM_001170795.4:c.667C>G NP_001164266.1:p.Arg223Gly NC_000002.12:27216924:C:G p.(Arg223Gly) NC_000002.12:27216924:C:G p.(Arg223Gly) NC_000002.12:27216924:C:G Identity +NM_001256617.2:c.301A>T NP_001243546.1:p.Asn101Tyr NC_000010.11:133299581:T:A p.(Asn101Tyr) NC_000010.11:133299581:T:A p.(Asn101Tyr) NC_000010.11:133299581:T:A Identity +NM_020461.4:c.3911C>T NP_065194.3:p.Ser1304Leu NC_000022.11:50220447:G:A p.(Ser1304Leu) NC_000022.11:50220447:G:A p.(Ser1304Leu) NC_000022.11:50220447:G:A Identity +NM_001045476.3:c.273T>G NP_001038941.1:p.Asp91Glu NC_000009.12:124855715:T:G p.(Asp91Glu) NC_000009.12:124855715:T:G p.(Asp91Glu) NC_000009.12:124855715:T:G Identity +NM_001142550.2:c.2626G>A NP_001136022.1:p.Val876Met NC_000001.11:108974550:C:T p.(Val876Met) NC_000001.11:108974550:C:T p.(Val876Met) NC_000001.11:108974550:C:T Identity +NM_001374682.1:c.3095A>T NP_001361611.1:p.Gln1032Leu NC_000008.11:139732183:T:A p.(Gln1032Leu) NC_000008.11:139732183:T:A p.(Gln1032Leu) NC_000008.11:139732183:T:A Identity +NM_013381.3:c.475G>A NP_037513.2:p.Val159Met NC_000012.12:72273117:G:A p.(Val159Met) NC_000012.12:72273117:G:A p.(Val159Met) NC_000012.12:72273117:G:A Identity +NM_001242783.2:c.1145A>G NP_001229712.1:p.Asp382Gly NC_000006.12:30186350:T:C p.(Asp382Gly) NC_000006.12:30186350:T:C p.(Asp382Gly) NC_000006.12:30186350:T:C Identity +NM_001005207.5:c.2069C>G NP_001005207.1:p.Thr690Ser NC_000017.11:59028602:G:C p.(Thr690Ser) NC_000017.11:59028602:G:C p.(Thr690Ser) NC_000017.11:59028602:G:C Identity +NM_001256599.2:c.725G>A NP_001243528.1:p.Ser242Asn NC_000001.11:155177055:G:A p.(Ser242Asn) NC_000001.11:155177055:G:A p.(Ser242Asn) NC_000001.11:155177055:G:A Identity +NM_001367482.1:c.2953G>A NP_001354411.1:p.Val985Met NC_000001.11:241790651:G:A p.(Val985Met) NC_000001.11:241790651:G:A p.(Val985Met) NC_000001.11:241790651:G:A Identity +NM_182758.4:c.82G>A NP_877435.3:p.Asp28Asn NC_000015.10:53733067:C:T p.(Asp28Asn) NC_000015.10:53733067:C:T p.(Asp28Asn) NC_000015.10:53733067:C:T Identity +NM_145294.5:c.2119G>A NP_660337.3:p.Ala707Thr NC_000016.10:656453:G:A p.(Ala707Thr) NC_000016.10:656453:G:A p.(Ala707Thr) NC_000016.10:656453:G:A Identity +NM_175575.6:c.143A>G NP_783165.1:p.Asn48Ser NC_000017.11:50836079:A:G p.(Asn48Ser) NC_000017.11:50836079:A:G p.(Asn48Ser) NC_000017.11:50836079:A:G Identity +NM_001002292.4:c.74A>G NP_001002292.3:p.Gln25Arg NC_000001.11:68232225:T:C p.(Gln25Arg) NC_000001.11:68232225:T:C p.(Gln25Arg) NC_000001.11:68232225:T:C Identity +NM_001282394.3:c.4670G>C NP_001269323.1:p.Gly1557Ala NC_000009.12:93289312:G:C p.(Gly1557Ala) NC_000009.12:93289312:G:C p.(Gly1557Ala) NC_000009.12:93289312:G:C Identity +NM_001282394.3:c.144G>T NP_001269323.1:p.Glu48Asp NC_000009.12:93185072:G:T p.(Glu48Asp) NC_000009.12:93185072:G:T p.(Glu48Asp) NC_000009.12:93185072:G:T Identity +NM_001007466.3:c.989G>A NP_001007467.1:p.Arg330His NC_000006.12:158461691:G:A p.(Arg330His) NC_000006.12:158461691:G:A p.(Arg330His) NC_000006.12:158461691:G:A Identity +NM_014817.4:c.2404G>C NP_055632.2:p.Glu802Gln NC_000007.14:28955642:C:G p.(Glu802Gln) NC_000007.14:28955642:C:G p.(Glu802Gln) NC_000007.14:28955642:C:G Identity +NM_032588.4:c.895G>C NP_115977.2:p.Glu299Gln NC_000001.11:26057286:C:G p.(Glu299Gln) NC_000001.11:26057286:C:G p.(Glu299Gln) NC_000001.11:26057286:C:G Identity +NM_001304496.2:c.497C>A NP_001291425.1:p.Pro166His NC_000011.10:4600567:G:T p.(Pro166His) NC_000011.10:4600567:G:T p.(Pro166His) NC_000011.10:4600567:G:T Identity +NM_001282394.3:c.6616G>A NP_001269323.1:p.Glu2206Lys NC_000009.12:93308572:G:A p.(Glu2206Lys) NC_000009.12:93308572:G:A p.(Glu2206Lys) NC_000009.12:93308572:G:A Identity +NM_001282394.3:c.2045C>T NP_001269323.1:p.Pro682Leu NC_000009.12:93256308:C:T p.(Pro682Leu) NC_000009.12:93256308:C:T p.(Pro682Leu) NC_000009.12:93256308:C:T Identity +NM_001385197.1:c.1663C>A NP_001372126.1:p.Pro555Thr NC_000019.10:10362269:G:T p.(Pro555Thr) NC_000019.10:10362269:G:T p.(Pro555Thr) NC_000019.10:10362269:G:T Identity +NM_001008224.3:c.2239A>G NP_001008225.1:p.Ile747Val NC_000015.10:70668405:T:C p.(Ile747Val) NC_000015.10:70668405:T:C p.(Ile747Val) NC_000015.10:70668405:T:C Identity +NM_001363861.1:c.642G>T NP_001350790.1:p.Met214Ile NC_000003.12:69062107:C:A p.(Met214Ile) NC_000003.12:69062107:C:A p.(Met214Ile) NC_000003.12:69062107:C:A Identity +NM_018227.6:c.865G>A NP_060697.4:p.Val289Ile NC_000004.12:67665220:C:T p.(Val289Ile) NC_000004.12:67665220:C:T p.(Val289Ile) NC_000004.12:67665220:C:T Identity +NM_033229.3:c.329C>A NP_150232.2:p.Thr110Lys NC_000006.12:30164012:C:A p.(Thr110Lys) NC_000006.12:30164012:C:A p.(Thr110Lys) NC_000006.12:30164012:C:A Identity +NM_005762.3:c.1369C>T NP_005753.1:p.Pro457Ser NC_000019.10:58548869:C:T p.(Pro457Ser) NC_000019.10:58548869:C:T p.(Pro457Ser) NC_000019.10:58548869:C:T Identity +NM_001330382.2:c.221G>A NP_001317311.1:p.Arg74Gln NC_000011.10:120127465:C:T p.(Arg74Gln) NC_000011.10:120127465:C:T p.(Arg74Gln) NC_000011.10:120127465:C:T Identity +NM_001300752.2:c.1333T>C NP_001287681.1:p.Trp445Arg NC_000005.10:115130625:A:G p.(Trp445Arg) NC_000005.10:115130625:A:G p.(Trp445Arg) NC_000005.10:115130625:A:G Identity +NM_003391.3:c.534A>T NP_003382.1:p.Lys178Asn NC_000007.14:117315124:T:A p.(Lys178Asn) NC_000007.14:117315124:T:A p.(Lys178Asn) NC_000007.14:117315124:T:A Identity +NM_001320458.2:c.446C>T NP_001307387.1:p.Pro149Leu NC_000017.11:46875211:C:T p.(Pro149Leu) NC_000017.11:46875211:C:T p.(Pro149Leu) NC_000017.11:46875211:C:T Identity +NM_001288962.2:c.1466C>T NP_001275891.1:p.Pro489Leu NC_000019.10:6750361:C:T p.(Pro489Leu) NC_000019.10:6750361:C:T p.(Pro489Leu) NC_000019.10:6750361:C:T Identity +NM_017819.4:c.886A>G NP_060289.2:p.Asn296Asp NC_000003.12:101565666:A:G p.(Asn296Asp) NC_000003.12:101565666:A:G p.(Asn296Asp) NC_000003.12:101565666:A:G Identity +NM_001039705.3:c.3888T>G NP_001034794.1:p.Asn1296Lys NC_000023.11:54930611:T:G p.(Asn1296Lys) NC_000023.11:54930611:T:G p.(Asn1296Lys) NC_000023.11:54930611:T:G Identity +NM_001195227.2:c.709G>A NP_001182156.1:p.Asp237Asn NC_000019.10:49168648:G:A p.(Asp237Asn) NC_000019.10:49168648:G:A p.(Asp237Asn) NC_000019.10:49168648:G:A Identity +NM_014555.4:c.856T>A NP_055370.1:p.Phe286Ile NC_000011.10:2418216:A:T p.(Phe286Ile) NC_000011.10:2418216:A:T p.(Phe286Ile) NC_000011.10:2418216:A:T Identity +NM_014555.4:c.959A>C NP_055370.1:p.Gln320Pro NC_000011.10:2417776:T:G p.(Gln320Pro) NC_000011.10:2417776:T:G p.(Gln320Pro) NC_000011.10:2417776:T:G Identity +NM_014555.4:c.3320C>T NP_055370.1:p.Ser1107Leu NC_000011.10:2406022:G:A p.(Ser1107Leu) NC_000011.10:2406022:G:A p.(Ser1107Leu) NC_000011.10:2406022:G:A Identity +NM_018646.6:c.2155C>G NP_061116.5:p.Leu719Val NC_000007.14:142871849:G:C p.(Leu719Val) NC_000007.14:142871849:G:C p.(Leu719Val) NC_000007.14:142871849:G:C Identity +NM_001244580.2:c.10299G>T NP_001231509.1:p.Lys3433Asn NC_000007.14:99004220:G:T p.(Lys3433Asn) NC_000007.14:99004220:G:T p.(Lys3433Asn) NC_000007.14:99004220:G:T Identity +NM_018961.4:c.653A>G NP_061834.1:p.Tyr218Cys NC_000021.9:42413508:A:G p.(Tyr218Cys) NC_000021.9:42413508:A:G p.(Tyr218Cys) NC_000021.9:42413508:A:G Identity +NM_130466.4:c.2884T>A NP_569733.2:p.Ser962Thr NC_000012.12:109530619:T:A p.(Ser962Thr) NC_000012.12:109530619:T:A p.(Ser962Thr) NC_000012.12:109530619:T:A Identity +NM_019116.3:c.101T>C NP_061989.2:p.Leu34Pro NC_000016.10:23558024:T:C p.(Leu34Pro) NC_000016.10:23558024:T:C p.(Leu34Pro) NC_000016.10:23558024:T:C Identity +NM_174916.3:c.2699A>G NP_777576.1:p.Asp900Gly NC_000015.10:43024868:T:C p.(Asp900Gly) NC_000015.10:43024868:T:C p.(Asp900Gly) NC_000015.10:43024868:T:C Identity +NM_172070.4:c.4478T>C NP_742067.3:p.Leu1493Ser NC_000002.12:170029369:T:C p.(Leu1493Ser) NC_000002.12:170029369:T:C p.(Leu1493Ser) NC_000002.12:170029369:T:C Identity +NM_001282873.2:c.1080G>T NP_001269802.1:p.Leu360Phe NC_000008.11:102342490:C:A p.(Leu360Phe) NC_000008.11:102342490:C:A p.(Leu360Phe) NC_000008.11:102342490:C:A Identity +NM_033058.3:c.1355A>G NP_149047.2:p.Lys452Arg NC_000008.11:66154164:A:G p.(Lys452Arg) NC_000008.11:66154164:A:G p.(Lys452Arg) NC_000008.11:66154164:A:G Identity +NM_001184.4:c.1051C>A NP_001175.2:p.Gln351Lys NC_000003.12:142562350:G:T p.(Gln351Lys) NC_000003.12:142562350:G:T p.(Gln351Lys) NC_000003.12:142562350:G:T Identity +NM_001303264.2:c.596G>C NP_001290193.1:p.Gly199Ala NC_000003.12:150409945:G:C p.(Gly199Ala) NC_000003.12:150409945:G:C p.(Gly199Ala) NC_000003.12:150409945:G:C Identity +NM_001077446.4:c.916T>C NP_001070914.1:p.Trp306Arg NC_000019.10:54193344:T:C p.(Trp306Arg) NC_000019.10:54193344:T:C p.(Trp306Arg) NC_000019.10:54193344:T:C Identity +NM_001395491.1:c.88G>A NP_001382420.1:p.Ala30Thr NC_000011.10:65945762:G:A p.(Ala30Thr) NC_000011.10:65945762:G:A p.(Ala30Thr) NC_000011.10:65945762:G:A Identity +NM_015562.2:c.1379G>A NP_056377.1:p.Arg460Gln NC_000003.12:196356775:C:T p.(Arg460Gln) NC_000003.12:196356775:C:T p.(Arg460Gln) NC_000003.12:196356775:C:T Identity +NM_018359.5:c.451G>A NP_060829.2:p.Asp151Asn NC_000004.12:185415749:C:T p.(Asp151Asn) NC_000004.12:185415749:C:T p.(Asp151Asn) NC_000004.12:185415749:C:T Identity +NM_001073.3:c.166C>G NP_001064.1:p.Leu56Val NC_000004.12:69214556:G:C p.(Leu56Val) NC_000004.12:69214556:G:C p.(Leu56Val) NC_000004.12:69214556:G:C Identity +NM_001080421.3:c.3758G>A NP_001073890.2:p.Cys1253Tyr NC_000019.10:17627935:C:T p.(Cys1253Tyr) NC_000019.10:17627935:C:T p.(Cys1253Tyr) NC_000019.10:17627935:C:T Identity +NM_001080534.3:c.4028G>A NP_001074003.1:p.Arg1343Gln NC_000015.10:54297849:G:A p.(Arg1343Gln) NC_000015.10:54297849:G:A p.(Arg1343Gln) NC_000015.10:54297849:G:A Identity +NM_001297549.2:c.191G>T NP_001284478.1:p.Gly64Val NC_000019.10:18832399:G:T p.(Gly64Val) NC_000019.10:18832399:G:T p.(Gly64Val) NC_000019.10:18832399:G:T Identity +NM_001184.4:c.7736A>G NP_001175.2:p.Glu2579Gly NC_000003.12:142453152:T:C p.(Glu2579Gly) NC_000003.12:142453152:T:C p.(Glu2579Gly) NC_000003.12:142453152:T:C Identity +NM_001303419.1:c.397G>A NP_001290348.1:p.Asp133Asn NC_000004.12:188101138:C:T p.(Asp133Asn) NC_000004.12:188101138:C:T p.(Asp133Asn) NC_000004.12:188101138:C:T Identity +NM_001288990.3:c.1133C>G NP_001275919.1:p.Thr378Ser NC_000016.10:67826064:C:G p.(Thr378Ser) NC_000016.10:67826064:C:G p.(Thr378Ser) NC_000016.10:67826064:C:G Identity +NM_001100917.2:c.633T>G NP_001094387.1:p.Asn211Lys NC_000012.12:85015932:A:C p.(Asn211Lys) NC_000012.12:85015932:A:C p.(Asn211Lys) NC_000012.12:85015932:A:C Identity +NM_001314021.2:c.4568C>T NP_001300950.1:p.Thr1523Met NC_000001.11:229659289:C:T p.(Thr1523Met) NC_000001.11:229659289:C:T p.(Thr1523Met) NC_000001.11:229659289:C:T Identity +NM_001077663.3:c.853C>T NP_001071131.1:p.Pro285Ser NC_000007.14:43878609:G:A p.(Pro285Ser) NC_000007.14:43878609:G:A p.(Pro285Ser) NC_000007.14:43878609:G:A Identity +NM_001009899.4:c.6050C>G NP_001009899.3:p.Ser2017Cys NC_000003.12:113655631:G:C p.(Ser2017Cys) NC_000003.12:113655631:G:C p.(Ser2017Cys) NC_000003.12:113655631:G:C Identity +NM_001009899.4:c.6070C>T NP_001009899.3:p.Leu2024Phe NC_000003.12:113655611:G:A p.(Leu2024Phe) NC_000003.12:113655611:G:A p.(Leu2024Phe) NC_000003.12:113655611:G:A Identity +NM_001282489.3:c.511G>A NP_001269418.1:p.Asp171Asn NC_000017.11:74920015:C:T p.(Asp171Asn) NC_000017.11:74920015:C:T p.(Asp171Asn) NC_000017.11:74920015:C:T Identity +NM_206933.4:c.12611C>T NP_996816.3:p.Thr4204Ile NC_000001.11:215675299:G:A p.(Thr4204Ile) NC_000001.11:215675299:G:A p.(Thr4204Ile) NC_000001.11:215675299:G:A Identity +NM_001202423.2:c.241C>G NP_001189352.1:p.Gln81Glu NC_000001.11:185143975:G:C p.(Gln81Glu) NC_000001.11:185143975:G:C p.(Gln81Glu) NC_000001.11:185143975:G:C Identity +NM_001257994.2:c.748G>A NP_001244923.1:p.Gly250Arg NC_000022.11:20115407:C:T p.(Gly250Arg) NC_000022.11:20115407:C:T p.(Gly250Arg) NC_000022.11:20115407:C:T Identity +NM_001135955.3:c.2278T>C NP_001129427.1:p.Ser760Pro NC_000013.11:37637558:A:G p.(Ser760Pro) NC_000013.11:37637558:A:G p.(Ser760Pro) NC_000013.11:37637558:A:G Identity +NM_001252020.2:c.331T>G NP_001238949.1:p.Tyr111Asp NC_000015.10:31068091:A:C p.(Tyr111Asp) NC_000015.10:31068091:A:C p.(Tyr111Asp) NC_000015.10:31068091:A:C Identity +NM_032538.3:c.3955G>C NP_115927.1:p.Gly1319Arg NC_000006.12:43285364:G:C p.(Gly1319Arg) NC_000006.12:43285364:G:C p.(Gly1319Arg) NC_000006.12:43285364:G:C Identity +NM_001318533.2:c.389G>T NP_001305462.1:p.Ser130Ile NC_000011.10:113325589:G:T p.(Ser130Ile) NC_000011.10:113325589:G:T p.(Ser130Ile) NC_000011.10:113325589:G:T Identity +NM_001318533.2:c.1796A>C NP_001305462.1:p.Tyr599Ser NC_000011.10:113363888:A:C p.(Tyr599Ser) NC_000011.10:113363888:A:C p.(Tyr599Ser) NC_000011.10:113363888:A:C Identity +NM_001105513.3:c.3092T>C NP_001098983.2:p.Val1031Ala NC_000003.12:39137017:T:C p.(Val1031Ala) NC_000003.12:39137017:T:C p.(Val1031Ala) NC_000003.12:39137017:T:C Identity +NM_001184.4:c.596T>C NP_001175.2:p.Met199Thr NC_000003.12:142562805:A:G p.(Met199Thr) NC_000003.12:142562805:A:G p.(Met199Thr) NC_000003.12:142562805:A:G Identity +NM_001184.4:c.2894C>G NP_001175.2:p.Ala965Gly NC_000003.12:142550213:G:C p.(Ala965Gly) NC_000003.12:142550213:G:C p.(Ala965Gly) NC_000003.12:142550213:G:C Identity +NM_001291333.2:c.748G>A NP_001278262.1:p.Val250Ile NC_000001.11:54737647:G:A p.(Val250Ile) NC_000001.11:54737647:G:A p.(Val250Ile) NC_000001.11:54737647:G:A Identity +NM_001371072.1:c.559G>A NP_001358001.1:p.Glu187Lys NC_000023.11:47240327:G:A p.(Glu187Lys) NC_000023.11:47240327:G:A p.(Glu187Lys) NC_000023.11:47240327:G:A Identity +NM_001389643.1:c.1282T>A NP_001376572.1:p.Phe428Ile NC_000019.10:57129956:T:A p.(Phe428Ile) NC_000019.10:57129956:T:A p.(Phe428Ile) NC_000019.10:57129956:T:A Identity +NM_001389643.1:c.1716G>T NP_001376572.1:p.Glu572Asp NC_000019.10:57130390:G:T p.(Glu572Asp) NC_000019.10:57130390:G:T p.(Glu572Asp) NC_000019.10:57130390:G:T Identity +NM_020935.3:c.2450A>G NP_065986.3:p.Gln817Arg NC_000002.12:218466025:T:C p.(Gln817Arg) NC_000002.12:218466025:T:C p.(Gln817Arg) NC_000002.12:218466025:T:C Identity +NM_001365479.2:c.3648G>C NP_001352408.1:p.Glu1216Asp NC_000002.12:233477454:C:G p.(Glu1216Asp) NC_000002.12:233477454:C:G p.(Glu1216Asp) NC_000002.12:233477454:C:G Identity +NM_001320350.2:c.2473C>T NP_001307279.2:p.Pro825Ser NC_000021.9:44401831:C:T p.(Pro825Ser) NC_000021.9:44401831:C:T p.(Pro825Ser) NC_000021.9:44401831:C:T Identity +NM_001136538.2:c.1655C>T NP_001130010.1:p.Thr552Ile NC_000012.12:111736851:C:T p.(Thr552Ile) NC_000012.12:111736851:C:T p.(Thr552Ile) NC_000012.12:111736851:C:T Identity +NM_014555.4:c.445C>G NP_055370.1:p.Arg149Gly NC_000011.10:2421051:G:C p.(Arg149Gly) NC_000011.10:2421051:G:C p.(Arg149Gly) NC_000011.10:2421051:G:C Identity +NM_014555.4:c.724A>G NP_055370.1:p.Arg242Gly NC_000011.10:2418348:T:C p.(Arg242Gly) NC_000011.10:2418348:T:C p.(Arg242Gly) NC_000011.10:2418348:T:C Identity +NM_001256850.1:c.39281dup NP_001243779.1:p.Asn13094fs NC_000002.12:178630317:TT:TTT p.(Asn13094LysfsTer18) NC_000002.12:178630317:TT:TTT p.(Asn13094LysfsTer18) ERR:SPDI Analogous +NM_001080491.5:c.2450C>T NP_001073960.1:p.Ser817Phe NC_000010.11:11462528:G:A p.(Ser817Phe) NC_000010.11:11462528:G:A p.(Ser817Phe) NC_000010.11:11462528:G:A Identity +NM_001039590.3:c.6823G>A NP_001034679.2:p.Val2275Met NC_000023.11:41224812:G:A p.(Val2275Met) NC_000023.11:41224812:G:A p.(Val2275Met) NC_000023.11:41224812:G:A Identity +NM_014503.3:c.22C>T NP_055318.2:p.His8Tyr NC_000012.12:101280303:C:T p.(His8Tyr) NC_000012.12:101280303:C:T p.(His8Tyr) NC_000012.12:101280303:C:T Identity +NM_001184.4:c.3164A>G NP_001175.2:p.Tyr1055Cys NC_000003.12:142549485:T:C p.(Tyr1055Cys) NC_000003.12:142549485:T:C p.(Tyr1055Cys) NC_000003.12:142549485:T:C Identity +NM_001330453.2:c.1331G>T NP_001317382.1:p.Ser444Ile NC_000017.11:74253214:G:T p.(Ser444Ile) NC_000017.11:74253214:G:T p.(Ser444Ile) NC_000017.11:74253214:G:T Identity +NM_001126337.2:c.46G>C NP_001119809.1:p.Glu16Gln NC_000001.11:151540411:G:C p.(Glu16Gln) NC_000001.11:151540411:G:C p.(Glu16Gln) NC_000001.11:151540411:G:C Identity +NM_020245.5:c.2975G>A NP_064630.2:p.Arg992His NC_000006.12:158502637:G:A p.(Arg992His) NC_000006.12:158502637:G:A p.(Arg992His) NC_000006.12:158502637:G:A Identity +NM_001317934.2:c.2005C>T NP_001304863.1:p.Arg669Cys NC_000004.12:1383908:C:T p.(Arg669Cys) NC_000004.12:1383908:C:T p.(Arg669Cys) NC_000004.12:1383908:C:T Identity +NM_001134398.2:c.2447G>A NP_001127870.1:p.Arg816His NC_000009.12:133768583:C:T p.(Arg816His) NC_000009.12:133768583:C:T p.(Arg816His) NC_000009.12:133768583:C:T Identity +NM_001288990.3:c.485A>G NP_001275919.1:p.His162Arg NC_000016.10:67824585:A:G p.(His162Arg) NC_000016.10:67824585:A:G p.(His162Arg) NC_000016.10:67824585:A:G Identity +NM_001184.4:c.5604C>G NP_001175.2:p.Phe1868Leu NC_000003.12:142497146:G:C p.(Phe1868Leu) NC_000003.12:142497146:G:C p.(Phe1868Leu) NC_000003.12:142497146:G:C Identity +NM_022830.3:c.1934A>G NP_073741.3:p.Glu645Gly NC_000011.10:62575784:T:C p.(Glu645Gly) NC_000011.10:62575784:T:C p.(Glu645Gly) NC_000011.10:62575784:T:C Identity +NM_001376857.1:c.551C>A NP_001363786.1:p.Thr184Asn NC_000001.11:32184569:C:A p.(Thr184Asn) NC_000001.11:32184569:C:A p.(Thr184Asn) NC_000001.11:32184569:C:A Identity +NM_001145549.4:c.808G>A NP_001139021.1:p.Glu270Lys NC_000006.12:7884402:C:T p.(Glu270Lys) NC_000006.12:7884402:C:T p.(Glu270Lys) NC_000006.12:7884402:C:T Identity +NM_001145440.3:c.92G>A NP_001138912.2:p.Ser31Asn NC_000007.14:72826897:C:T p.(Ser31Asn) NC_000007.14:72826897:C:T p.(Ser31Asn) NC_000007.14:72826897:C:T Identity +NM_014671.3:c.1202C>T NP_055486.2:p.Thr401Ile NC_000007.14:157186891:C:T p.(Thr401Ile) NC_000007.14:157186891:C:T p.(Thr401Ile) NC_000007.14:157186891:C:T Identity +NM_001164097.2:c.6199G>C NP_001157569.1:p.Glu2067Gln NC_000005.10:83542162:G:C p.(Glu2067Gln) NC_000005.10:83542162:G:C p.(Glu2067Gln) NC_000005.10:83542162:G:C Identity +NM_000706.5:c.329G>A NP_000697.1:p.Cys110Tyr NC_000012.12:63150507:C:T p.(Cys110Tyr) NC_000012.12:63150507:C:T p.(Cys110Tyr) NC_000012.12:63150507:C:T Identity +NM_001077262.2:c.416G>A NP_001070730.1:p.Arg139His NC_000001.11:26285539:C:T p.(Arg139His) NC_000001.11:26285539:C:T p.(Arg139His) NC_000001.11:26285539:C:T Identity +NM_001320493.2:c.911T>A NP_001307422.1:p.Ile304Lys NC_000003.12:86968615:A:T p.(Ile304Lys) NC_000003.12:86968615:A:T p.(Ile304Lys) NC_000003.12:86968615:A:T Identity +NM_001193314.2:c.1136A>G NP_001180243.1:p.Lys379Arg NC_000014.9:77433884:T:C p.(Lys379Arg) NC_000014.9:77433884:T:C p.(Lys379Arg) NC_000014.9:77433884:T:C Identity +NM_020121.4:c.3169G>A NP_064506.3:p.Gly1057Ser NC_000013.11:95884549:C:T p.(Gly1057Ser) NC_000013.11:95884549:C:T p.(Gly1057Ser) NC_000013.11:95884549:C:T Identity +NM_001018037.2:c.1213G>A NP_001018047.1:p.Ala405Thr NC_000009.12:77225976:G:A p.(Ala405Thr) NC_000009.12:77225976:G:A p.(Ala405Thr) NC_000009.12:77225976:G:A Identity +NM_022575.4:c.863G>A NP_072097.2:p.Arg288Gln NC_000020.11:2861667:G:A p.(Arg288Gln) NC_000020.11:2861667:G:A p.(Arg288Gln) NC_000020.11:2861667:G:A Identity +NM_017966.5:c.767C>T NP_060436.4:p.Ala256Val NC_000011.10:61132120:G:A p.(Ala256Val) NC_000011.10:61132120:G:A p.(Ala256Val) NC_000011.10:61132120:G:A Identity +NM_003565.4:c.2279C>T NP_003556.2:p.Pro760Leu NC_000012.12:131917506:C:T p.(Pro760Leu) NC_000012.12:131917506:C:T p.(Pro760Leu) NC_000012.12:131917506:C:T Identity +NM_001004416.3:c.2720A>C NP_001004416.3:p.Asp907Ala NC_000021.9:42121116:A:C p.(Asp907Ala) NC_000021.9:42121116:A:C p.(Asp907Ala) NC_000021.9:42121116:A:C Identity +NM_001004416.3:c.1447C>G NP_001004416.3:p.Leu483Val NC_000021.9:42104014:C:G p.(Leu483Val) NC_000021.9:42104014:C:G p.(Leu483Val) NC_000021.9:42104014:C:G Identity +NM_001080534.3:c.4050A>G NP_001074003.1:p.Ile1350Met NC_000015.10:54297871:A:G p.(Ile1350Met) NC_000015.10:54297871:A:G p.(Ile1350Met) NC_000015.10:54297871:A:G Identity +NM_001244889.2:c.1859G>A NP_001231818.1:p.Arg620His NC_000010.11:71293523:G:A p.(Arg620His) NC_000010.11:71293523:G:A p.(Arg620His) NC_000010.11:71293523:G:A Identity +NM_001244889.2:c.1516C>T NP_001231818.1:p.Arg506Trp NC_000010.11:71291685:C:T p.(Arg506Trp) NC_000010.11:71291685:C:T p.(Arg506Trp) NC_000010.11:71291685:C:T Identity +NM_014825.3:c.2633G>T NP_055640.2:p.Ser878Ile NC_000021.9:32350902:C:A p.(Ser878Ile) NC_000021.9:32350902:C:A p.(Ser878Ile) NC_000021.9:32350902:C:A Identity +NM_014825.3:c.3848A>G NP_055640.2:p.His1283Arg NC_000021.9:32346975:T:C p.(His1283Arg) NC_000021.9:32346975:T:C p.(His1283Arg) NC_000021.9:32346975:T:C Identity +NM_014825.3:c.6326C>T NP_055640.2:p.Ala2109Val NC_000021.9:32316773:G:A p.(Ala2109Val) NC_000021.9:32316773:G:A p.(Ala2109Val) NC_000021.9:32316773:G:A Identity +NM_001195302.2:c.723C>A NP_001182231.1:p.Phe241Leu NC_000016.10:58020223:C:A p.(Phe241Leu) NC_000016.10:58020223:C:A p.(Phe241Leu) NC_000016.10:58020223:C:A Identity +NM_015306.3:c.914A>T NP_056121.2:p.Asp305Val NC_000001.11:55165897:T:A p.(Asp305Val) NC_000001.11:55165897:T:A p.(Asp305Val) NC_000001.11:55165897:T:A Identity +NM_020935.3:c.2267A>C NP_065986.3:p.Glu756Ala NC_000002.12:218474661:T:G p.(Glu756Ala) NC_000002.12:218474661:T:G p.(Glu756Ala) NC_000002.12:218474661:T:G Identity +NM_001290325.1:c.2599A>G NP_001277254.1:p.Ser867Gly NC_000004.12:143214574:A:G p.(Ser867Gly) NC_000004.12:143214574:A:G p.(Ser867Gly) NC_000004.12:143214574:A:G Identity +NM_003363.4:c.2480G>A NP_003354.2:p.Arg827His NC_000003.12:49284046:C:T p.(Arg827His) NC_000003.12:49284046:C:T p.(Arg827His) NC_000003.12:49284046:C:T Identity +NM_139246.5:c.662G>C NP_640339.4:p.Arg221Thr NC_000009.12:97611640:C:G p.(Arg221Thr) NC_000009.12:97611640:C:G p.(Arg221Thr) NC_000009.12:97611640:C:G Identity +NM_032538.3:c.1894C>A NP_115927.1:p.Pro632Thr NC_000006.12:43263257:C:A p.(Pro632Thr) NC_000006.12:43263257:C:A p.(Pro632Thr) NC_000006.12:43263257:C:A Identity +NM_001080441.4:c.428G>A NP_001073910.1:p.Arg143His NC_000011.10:118530773:G:A p.(Arg143His) NC_000011.10:118530773:G:A p.(Arg143His) NC_000011.10:118530773:G:A Identity +NM_001139442.2:c.1A>G NP_001132914.2:p.Met1Val NC_000009.12:122093147:T:C p.(Met1Val) NC_000009.12:122093147:T:C p.Met1? NC_000009.12:122093147:T:C Identity +NM_001130918.3:c.1543C>G NP_001124390.1:p.Leu515Val NC_000017.11:48787856:G:C p.(Leu515Val) NC_000017.11:48787856:G:C p.(Leu515Val) NC_000017.11:48787856:G:C Identity +NM_001303114.1:c.676C>T NP_001290043.1:p.Arg226Cys NC_000012.12:49272342:C:T p.(Arg226Cys) NC_000012.12:49272342:C:T p.(Arg226Cys) NC_000012.12:49272342:C:T Identity +NM_001289123.2:c.173T>C NP_001276052.1:p.Leu58Pro NC_000019.10:6502192:A:G p.(Leu58Pro) NC_000019.10:6502192:A:G p.(Leu58Pro) NC_000019.10:6502192:A:G Identity +NM_003328.3:c.871C>T NP_003319.2:p.Arg291Trp NC_000004.12:48086550:G:A p.(Arg291Trp) NC_000004.12:48086550:G:A p.(Arg291Trp) NC_000004.12:48086550:G:A Identity +NM_001009921.3:c.546G>C NP_001009921.1:p.Gln182His NC_000003.12:184849074:G:C p.(Gln182His) NC_000003.12:184849074:G:C p.(Gln182His) NC_000003.12:184849074:G:C Identity +NM_018228.3:c.1298G>A NP_060698.2:p.Arg433Gln NC_000014.9:74358080:G:A p.(Arg433Gln) NC_000014.9:74358080:G:A p.(Arg433Gln) NC_000014.9:74358080:G:A Identity +NM_001345864.2:c.2386C>T NP_001332793.1:p.Arg796Trp NC_000002.12:98300210:C:T p.(Arg796Trp) NC_000002.12:98300210:C:T p.(Arg796Trp) NC_000002.12:98300210:C:T Identity +NM_152718.2:c.1345G>A NP_689931.2:p.Val449Ile NC_000011.10:61278455:C:T p.(Val449Ile) NC_000011.10:61278455:C:T p.(Val449Ile) NC_000011.10:61278455:C:T Identity +NM_000552.5:c.8035A>G NP_000543.3:p.Asn2679Asp NC_000012.12:5952470:T:C p.(Asn2679Asp) NC_000012.12:5952470:T:C p.(Asn2679Asp) NC_000012.12:5952470:T:C Identity +NM_000552.5:c.2237G>A NP_000543.3:p.Ser746Asn NC_000012.12:6046766:C:T p.(Ser746Asn) NC_000012.12:6046766:C:T p.(Ser746Asn) NC_000012.12:6046766:C:T Identity +NM_006990.5:c.1148T>C NP_008921.1:p.Leu383Ser NC_000001.11:27409882:A:G p.(Leu383Ser) NC_000001.11:27409882:A:G p.(Leu383Ser) NC_000001.11:27409882:A:G Identity +NM_001378090.1:c.1381G>C NP_001365019.1:p.Asp461His NC_000009.12:14823:C:G p.(Asp461His) NC_000009.12:14823:C:G p.(Asp461His) NC_000009.12:14823:C:G Identity +NM_003941.4:c.1055C>A NP_003932.3:p.Ser352Tyr NC_000007.14:123692638:G:T p.(Ser352Tyr) NC_000007.14:123692638:G:T p.(Ser352Tyr) NC_000007.14:123692638:G:T Identity +NM_016312.3:c.739G>A NP_057396.1:p.Asp247Asn NC_000012.12:14793904:C:T p.(Asp247Asn) NC_000012.12:14793904:C:T p.(Asp247Asn) NC_000012.12:14793904:C:T Identity +NM_001394531.1:c.8821G>A NP_001381460.1:p.Val2941Met NC_000010.11:48970181:G:A p.(Val2941Met) NC_000010.11:48970181:G:A p.(Val2941Met) NC_000010.11:48970181:G:A Identity +NM_001260474.2:c.595A>T NP_001247403.1:p.Thr199Ser NC_000021.9:42859693:T:A p.(Thr199Ser) NC_000021.9:42859693:T:A p.(Thr199Ser) NC_000021.9:42859693:T:A Identity +NM_001260474.2:c.1106C>G NP_001247403.1:p.Ser369Cys NC_000021.9:42850178:G:C p.(Ser369Cys) NC_000021.9:42850178:G:C p.(Ser369Cys) NC_000021.9:42850178:G:C Identity +NM_001348951.2:c.2329A>G NP_001335880.1:p.Thr777Ala NC_000003.12:167529095:T:C p.(Thr777Ala) NC_000003.12:167529095:T:C p.(Thr777Ala) NC_000003.12:167529095:T:C Identity +NM_001098536.2:c.203G>A NP_001092006.1:p.Arg68Gln NC_000012.12:6855491:G:A p.(Arg68Gln) NC_000012.12:6855491:G:A p.(Arg68Gln) NC_000012.12:6855491:G:A Identity +NM_001284430.1:c.887T>C NP_001271359.1:p.Val296Ala NC_000005.10:73577904:T:C p.(Val296Ala) NC_000005.10:73577904:T:C p.(Val296Ala) NC_000005.10:73577904:T:C Identity +NM_014503.3:c.3826G>A NP_055318.2:p.Val1276Ile NC_000012.12:101338234:G:A p.(Val1276Ile) NC_000012.12:101338234:G:A p.(Val1276Ile) NC_000012.12:101338234:G:A Identity +NM_198152.5:c.305G>T NP_937795.2:p.Gly102Val NC_000003.12:191275280:C:A p.(Gly102Val) NC_000003.12:191275280:C:A p.(Gly102Val) NC_000003.12:191275280:C:A Identity +NM_001317934.2:c.166G>A NP_001304863.1:p.Glu56Lys NC_000004.12:1349590:G:A p.(Glu56Lys) NC_000004.12:1349590:G:A p.(Glu56Lys) NC_000004.12:1349590:G:A Identity +NM_001284282.2:c.5G>T NP_001271211.1:p.Cys2Phe NC_000007.14:55521128:C:A p.(Cys2Phe) NC_000007.14:55521128:C:A p.(Cys2Phe) NC_000007.14:55521128:C:A Identity +NM_003502.4:c.456C>A NP_003493.1:p.Asn152Lys NC_000016.10:346569:G:T p.(Asn152Lys) NC_000016.10:346569:G:T p.(Asn152Lys) NC_000016.10:346569:G:T Identity +NM_015378.4:c.12670G>A NP_056193.2:p.Ala4224Thr NC_000001.11:12497506:G:A p.(Ala4224Thr) NC_000001.11:12497506:G:A p.(Ala4224Thr) NC_000001.11:12497506:G:A Identity +NM_022575.4:c.1435C>A NP_072097.2:p.Gln479Lys NC_000020.11:2863356:C:A p.(Gln479Lys) NC_000020.11:2863356:C:A p.(Gln479Lys) NC_000020.11:2863356:C:A Identity +NM_001135.4:c.4187C>T NP_001126.3:p.Ser1396Phe NC_000015.10:88856771:C:T p.(Ser1396Phe) NC_000015.10:88856771:C:T p.(Ser1396Phe) NC_000015.10:88856771:C:T Identity +NM_001077621.2:c.592G>C NP_001071089.1:p.Val198Leu NC_000007.14:73671211:G:C p.(Val198Leu) NC_000007.14:73671211:G:C p.(Val198Leu) NC_000007.14:73671211:G:C Identity +NM_000638.4:c.484G>C NP_000629.3:p.Asp162His NC_000017.11:28369551:C:G p.(Asp162His) NC_000017.11:28369551:C:G p.(Asp162His) NC_000017.11:28369551:C:G Identity +NM_000638.4:c.155C>T NP_000629.3:p.Thr52Ile NC_000017.11:28369955:G:A p.(Thr52Ile) NC_000017.11:28369955:G:A p.(Thr52Ile) NC_000017.11:28369955:G:A Identity +NM_173615.5:c.1180G>A NP_775886.3:p.Ala394Thr NC_000016.10:22121030:G:A p.(Ala394Thr) NC_000016.10:22121030:G:A p.(Ala394Thr) NC_000016.10:22121030:G:A Identity +NM_001130142.2:c.2120G>A NP_001123614.1:p.Ser707Asn NC_000011.10:124142537:G:A p.(Ser707Asn) NC_000011.10:124142537:G:A p.(Ser707Asn) NC_000011.10:124142537:G:A Identity +NM_025258.3:c.770C>T NP_079534.2:p.Pro257Leu NC_000006.12:31773388:G:A p.(Pro257Leu) NC_000006.12:31773388:G:A p.(Pro257Leu) NC_000006.12:31773388:G:A Identity +NM_025258.3:c.1370G>A NP_079534.2:p.Arg457His NC_000006.12:31769150:C:T p.(Arg457His) NC_000006.12:31769150:C:T p.(Arg457His) NC_000006.12:31769150:C:T Identity +NM_152718.2:c.1312C>T NP_689931.2:p.Pro438Ser NC_000011.10:61280635:G:A p.(Pro438Ser) NC_000011.10:61280635:G:A p.(Pro438Ser) NC_000011.10:61280635:G:A Identity +NM_000377.3:c.998G>C NP_000368.1:p.Gly333Ala NC_000023.11:48688725:G:C p.(Gly333Ala) NC_000023.11:48688725:G:C p.(Gly333Ala) NC_000023.11:48688725:G:C Identity +NM_001370153.1:c.245A>C NP_001357082.1:p.His82Pro NC_000010.11:48720020:A:C p.(His82Pro) NC_000010.11:48720020:A:C p.(His82Pro) NC_000010.11:48720020:A:C Identity +NM_001370153.1:c.3680A>C NP_001357082.1:p.Lys1227Thr NC_000010.11:48786741:A:C p.(Lys1227Thr) NC_000010.11:48786741:A:C p.(Lys1227Thr) NC_000010.11:48786741:A:C Identity +NM_001317924.2:c.302C>T NP_001304853.1:p.Thr101Ile NC_000004.12:39205627:C:T p.(Thr101Ile) NC_000004.12:39205627:C:T p.(Thr101Ile) NC_000004.12:39205627:C:T Identity +NM_001083961.2:c.3430G>T NP_001077430.1:p.Gly1144Cys NC_000019.10:36103041:G:T p.(Gly1144Cys) NC_000019.10:36103041:G:T p.(Gly1144Cys) NC_000019.10:36103041:G:T Identity +NM_001382485.1:c.1400T>C NP_001369414.1:p.Val467Ala NC_000018.10:56696283:T:C p.(Val467Ala) NC_000018.10:56696283:T:C p.(Val467Ala) NC_000018.10:56696283:T:C Identity +NM_032856.5:c.467G>A NP_116245.2:p.Arg156Gln NC_000015.10:84646233:C:T p.(Arg156Gln) NC_000015.10:84646233:C:T p.(Arg156Gln) NC_000015.10:84646233:C:T Identity +NM_032856.5:c.1034C>T NP_116245.2:p.Thr345Ile NC_000015.10:84643572:G:A p.(Thr345Ile) NC_000015.10:84643572:G:A p.(Thr345Ile) NC_000015.10:84643572:G:A Identity +NM_001167941.2:c.1565C>T NP_001161413.1:p.Ser522Leu NC_000015.10:43866267:C:T p.(Ser522Leu) NC_000015.10:43866267:C:T p.(Ser522Leu) NC_000015.10:43866267:C:T Identity +NM_145294.5:c.2794C>A NP_660337.3:p.Pro932Thr NC_000016.10:658551:C:A p.(Pro932Thr) NC_000016.10:658551:C:A p.(Pro932Thr) NC_000016.10:658551:C:A Identity +NM_080869.2:c.160G>A NP_543145.1:p.Asp54Asn NC_000020.11:45124184:C:T p.(Asp54Asn) NC_000020.11:45124184:C:T p.(Asp54Asn) NC_000020.11:45124184:C:T Identity diff --git a/docs/source/equivalence_logic.md b/docs/source/equivalence_logic.md index 66131f5..b5d9cb1 100644 --- a/docs/source/equivalence_logic.md +++ b/docs/source/equivalence_logic.md @@ -75,47 +75,45 @@ Before comparison, each variant is checked to see if it uses a gene symbol (e.g. Code: [hgvs-weaver/src/equivalence.rs](../../hgvs-weaver/src/equivalence.rs) -#### Genomic vs. Genomic (`n_vs_n_equivalent`) - -1. **3'-Most Normalization**: Both variants are shifted to their most 3' position using `VariantMapper::normalize_variant`. - - *Note*: As of version 0.1.1, the shifter correctly handles insertion coordinates by treating them as 0-length intervals, ensuring consistent behavior with duplications. -2. **Implicit Sequence Filling**: If a variant specifies a deletion or duplication by length (e.g., `c.10del`), the reference sequence at that position is retrieved and filled in (e.g., `c.10delT`) via `fill_implicit_sequence`. -3. **Insertion to Duplication Conversion**: If an insertion (`ins`) matches the reference sequence immediately preceding it, it is converted to a duplication (`dup`) via `normalize_ins_to_dup`. This logic is implemented for Genomic (`g.`), Coding (`c.`), and NonCoding (`n.`) variants, ensuring that `c.35_36insT` and `c.35dup` (where 35 is T) are recognized as equivalent. -4. **Formatting Normalization**: The final variant strings are processed by `normalize_format` to remove artifacts like parentheses for uncertain variants before direct string comparison. - -#### Coding vs. Coding (`n_vs_n_equivalent_c`) - -1. Both `c.` variants are mapped to genomic coordinates (`c_to_g`) using their respective transcript references. -2. The resulting `g.` variants are compared using the **Genomic vs. Genomic** strategy. - -#### Genomic vs. Coding (`g_vs_c_equivalent`) - -1. The `c.` variant is mapped to `g.` coordinates *on the reference sequence of the genomic variant*. -2. The resulting `g.` variants are compared. - -#### NonCoding vs. NonCoding (`n_vs_n_equivalent_n`) - -1. Both `n.` variants are mapped to genomic coordinates (`n_to_g`) using their respective transcript references. -2. The resulting `g.` variants are compared using the **Genomic vs. Genomic** strategy. - -#### Genomic vs. NonCoding (`g_vs_n_equivalent`) - -1. The `n.` variant is mapped to `g.` coordinates on the genomic variant's reference. -2. The resulting `g.` variants are compared. - -#### Coding vs. NonCoding (`c_vs_n_equivalent`) - -1. Both variants are mapped to genomic coordinates (`c_to_g` and `n_to_g`) using their common reference sequence. -2. The resulting `g.` variants are compared. - -#### Genomic vs. Protein (`g_vs_p_equivalent`) - -1. The `g.` variant is mapped to **all** overlapping transcripts (`g_to_c_all` via `TranscriptSearch`). -2. For each discovered `c.` variant, it is projected to protein (`c_to_p`). -3. The projected `p.` variant is compared to the target `p.` variant. -4. If *any* path results in a match, the variants are equivalent. - -#### Coding vs. Protein (`c_vs_p_equivalent`) - -1. The `c.` variant is projected to protein (`c_to_p`) using the accession of the target `p.` variant. -2. The projected `p.` string is compared to the target `p.` string. +The system now supports granular equivalence levels: + +### HGVS Variant Equivalence Examples + +| Equivalence Level | Comparison Type | Scenario Description | Example Variant A | Example Variant B | Notes | +| :---------------- | :-------------- | :------------------------ | :---------------- | :---------------------- | :---------------------------------------------------------------------------------------------------------- | +| **`Identity`** | `c.` vs `c.` | **Exact Match** | `c.123A>G` | `c.123A>G` | Strings match after basic normalization. | +| | `g.` vs `c.` | **Transcript Location** | `g.5000A>G` | `c.123A>G` | `g.` variant projects exactly to the `c.` variant on the transcript. | +| | `c.` vs `p.` | **Predicted Consequence** | `c.123A>G` | `p.(Glu41Gly)` | The *predicted* protein consequence of `c.` matches `p.` exactly (including parentheses). | +| **`Analogous`** | `c.` vs `c.` | **Repeat Shifting** | `c.4_6del` | `c.10_12del` | Deleting first vs third repeat unit results in identical transcript sequence. | +| | `p.` vs `p.` | **Insertion Offset** | `p.Tyr165Ter` | `p.Ala164_Tyr165insTer` | Different descriptions of the same truncation event. | +| | `c.` vs `p.` | **Observed vs Predicted** | `c.123A>G` | `p.Glu41Gly` | `c.` predicts `p.(Glu41Gly)`; matches observed `p.Glu41Gly` biologically (ignoring prediction brackets). | +| | `g.` vs `g.` | **Indel Redundancy** | `g.10_11insA` | `g.10dup` | Insertion of `A` after `A` is biologically identical to duplicating `A`. | +| **`Different`** | `c.` vs `c.` | **Distinct Edits** | `c.123A>G` | `c.123A>T` | Different nucleotide substitutions. | +| | `c.` vs `p.` | **Effect Mismatch** | `c.123A>G` | `p.Glu41Val` | `c.` predicts `p.Glu41Gly`, but `p.` is `Val`. | +| | `c.` vs `p.` | **Normalization Clash** | `c.4_6del` | `p.Gln4del` | *Known Issue:* Weaver generates `p.Gln4Ter` (Substitution) instead of `p.Gln4del` (Deletion) for this case. | +| **`Unknown`** | `c.` vs `?` | **Missing Data** | `c.123A>G` | `p.?` | Transcript or protein sequence unavailable for projection. | + +#### Genomic vs. Genomic / Coding vs. Coding / NonCoding vs. NonCoding + +1. **3'-Most Normalization**: Variants are shifted to their most 3' position. +2. **Strand-Aware Projection**: + - Variants are projected onto a local sequence window (`±2` bases). + - **Crucial**: If the variant is on the minus strand, edits (like `insA` or `T>C`) are reverse-complemented before projection onto the genomic reference. This ensures that `c.35_36insT` (minus strand) defines an insertion of `T` on the *transcript*, which corresponds to an insertion of `A` on the *genome*, correctly matching `g.dupA` if the reference is `A`. +3. **Implicit Sequence Filling**: Deletions/Duplications by length are filled with reference sequence. +4. **Unification**: The projected sequences are compared using `analogous_edit::reconcile_projections`. + +#### Protein vs. Protein (`p_vs_p_equivalent`) + +1. **Residue Unification**: + - Amino acids are parsed into `ResidueToken`s (e.g., `Known(Ala)`, `Unknown(Xaa, 1)`). + - Variants are projected onto a window around the edit. + - Using `UnificationEnv`, ambiguous tokens (`?`, `Xaa`) are unified with specific residues if a consistent mapping exists (e.g., `Xaa` can become `Ala`). +2. **Sequence Identity Check**: + - Checks if the final protein sequences are identical. + - Handles localized redundancy (e.g., `Ala2_Ala3dup` vs `Ala3_Ala4dup` in a poly-Ala tract). + +#### Cross-Coordinate Comparisons (g. vs c., c. vs p., etc.) + +1. **Mapping**: Variants are mapped to a common coordinate system (usually Genomic for NA, Protein for AA). +2. **Projection**: Once mapped, the standard comparison logic (Projection + Unification) is applied. +3. **Transcript Mismatch**: If a `c.` variant implies a transcript sequence that differs from the reference (e.g., `insA` where Ref is `G`), it is flagged as `Different` unless the user explicitly allows mismatches (though `weaver` defaults to strict checks). diff --git a/hgvs-weaver/Cargo.toml b/hgvs-weaver/Cargo.toml index 8842a3a..c5a019f 100644 --- a/hgvs-weaver/Cargo.toml +++ b/hgvs-weaver/Cargo.toml @@ -1,6 +1,6 @@ [package] name = "hgvs-weaver" -version = "0.2.0" +version = "0.3.0" edition = "2021" authors = ["The folded team"] description = "High-performance HGVS variant mapping and validation engine." diff --git a/hgvs-weaver/src/altseq.rs b/hgvs-weaver/src/altseq.rs index 7d6d60c..0d8f65b 100644 --- a/hgvs-weaver/src/altseq.rs +++ b/hgvs-weaver/src/altseq.rs @@ -14,6 +14,8 @@ pub struct AltTranscriptData { pub variant_start_aa: Option, pub frameshift_start: Option, pub is_substitution: bool, + pub variant_start_idx: usize, + pub variant_end_idx: usize, pub is_ambiguous: bool, /// The original cDNA variant. pub c_variant: CVariant, @@ -57,14 +59,12 @@ impl<'a> AltSeqBuilder<'a> { } // --- End validation --- - let pos = self - .var_c - .posedit - .pos - .as_ref() - .ok_or_else(|| HgvsError::ValidationError("Missing position".into()))?; - let pos_start_c_0 = pos.start.base.to_index(); - let variant_start_aa = Some(ProteinPos(pos_start_c_0.0.max(0) / 3)); + let cds_start_idx = self.cds_start_index.0 as usize; + let variant_start_aa = if start_idx >= cds_start_idx { + Some(ProteinPos(((start_idx - cds_start_idx) / 3) as i32)) + } else { + Some(ProteinPos(0)) // 5' UTR variant + }; let (is_substitution, is_frameshift, alt_transcript) = match &self.var_c.posedit.edit { NaEdit::RefAlt { ref_, alt, .. } => { @@ -355,16 +355,7 @@ impl<'a> AltSeqBuilder<'a> { let net_change = alt_transcript_seq.len() as i32 - self.transcript_sequence.len() as i32; let cds_end_i = self.cds_end_index.0 + net_change; - let mut is_fs = is_frameshift; - if is_fs { - if let Some(v_start_aa) = variant_start_aa { - if let Some(c) = aa_sequence.chars().nth(v_start_aa.0 as usize) { - if c == '*' { - is_fs = false; - } - } - } - } + let is_fs = is_frameshift; Ok(AltTranscriptData { transcript_sequence: alt_transcript_seq.0, @@ -377,6 +368,8 @@ impl<'a> AltSeqBuilder<'a> { frameshift_start: if is_fs { variant_start_aa } else { None }, is_substitution, is_ambiguous: false, + variant_start_idx: start_idx, + variant_end_idx: end_idx, c_variant: self.var_c.clone(), }) } @@ -429,7 +422,10 @@ impl<'a> AltSeqBuilder<'a> { i as usize } Anchor::CdsEnd => { - let i = (self.cds_end_index.0 + base_idx_0.0) as i32; + let mut i = (self.cds_end_index.0 + base_idx_0.0) as i32; + if base_idx_0.0 >= 0 { + i += 1; + } if i < 0 { return Err(HgvsError::ValidationError(format!( "Position {} before transcript start", @@ -439,6 +435,13 @@ impl<'a> AltSeqBuilder<'a> { i as usize } }; + if idx >= self.transcript_sequence.len() { + return Err(HgvsError::ValidationError(format!( + "Coordinate out of bounds: index {} is beyond transcript length {}", + idx, + self.transcript_sequence.len() + ))); + } Ok(idx) } } diff --git a/hgvs-weaver/src/altseq_to_hgvsp.rs b/hgvs-weaver/src/altseq_to_hgvsp.rs index 6c0af0f..52ae8bc 100644 --- a/hgvs-weaver/src/altseq_to_hgvsp.rs +++ b/hgvs-weaver/src/altseq_to_hgvsp.rs @@ -5,6 +5,8 @@ use crate::structs::{AAPosition, AaEdit, AaInterval, PVariant, PosEdit, ProteinP pub struct AltSeqToHgvsp<'a> { pub ref_aa: String, + pub ref_cds_start_idx: usize, + pub ref_cds_end_idx: usize, pub alt_data: &'a AltTranscriptData, } @@ -15,25 +17,7 @@ impl<'a> AltSeqToHgvsp<'a> { let alt_chars: Vec = alt_aa.chars().collect(); if self.ref_aa == *alt_aa { - let c_pos = self - .alt_data - .c_variant - .posedit - .pos - .as_ref() - .ok_or_else(|| HgvsError::ValidationError("Missing position".into()))?; - let start_0 = ProteinPos(c_pos.start.base.to_index().0 / 3); - let end_0 = if let Some(e) = &c_pos.end { - let e0 = ProteinPos(e.base.to_index().0 / 3); - if e0 == start_0 { - None - } else { - Some(e0) - } - } else { - None - }; - return self.create_variant(start_0, end_0, None, None, None, None, false, true); + return self.build_identity_variant(); } // Find first difference @@ -45,9 +29,55 @@ impl<'a> AltSeqToHgvsp<'a> { start_idx += 1; } + // --- GOD-MODE FIX: Check if the difference is after the official stop --- + // official_stop_idx is the index of the stop codon in the AA sequence. + // It is (cds_end - cds_start) / 3. + let official_stop_idx = (self.ref_cds_end_idx as i32 - self.ref_cds_start_idx as i32) / 3; + + if start_idx > official_stop_idx as usize { + // Difference is entirely in the 3' UTR and doesn't affect the protein. + return self.build_identity_variant(); + } + if self.alt_data.is_frameshift { - let ref_curr = aa1_to_aa3(ref_chars.get(start_idx).cloned().unwrap_or('*')).to_string(); - let alt_curr = aa1_to_aa3(alt_chars.get(start_idx).cloned().unwrap_or('*')).to_string(); + let ref_curr_char = ref_chars.get(start_idx).cloned().unwrap_or('*'); + let alt_curr_char = alt_chars.get(start_idx).cloned().unwrap_or('*'); + + // --- NORMALIZATION FIX: Immediate stop after frameshift --- + // If the first affected position in the alt sequence is a stop codon, + // HGVS recommends reporting as a simple substitution (nonsense or synonymous) + // instead of a redundant frameshift (e.g., p.Ter1= instead of p.Ter1fsTer1). + if alt_curr_char == '*' { + let ref_curr = aa1_to_aa3(ref_curr_char).to_string(); + if ref_curr_char == '*' { + // Synonymous at stop + return self.create_variant( + ProteinPos(start_idx as i32), + None, + None, + None, + None, + None, + false, + true, + ); + } else { + // Nonsense + return self.create_variant( + ProteinPos(start_idx as i32), + None, + Some(ref_curr), + Some("Ter".to_string()), + None, + None, + false, + false, + ); + } + } + + let ref_curr = aa1_to_aa3(ref_curr_char).to_string(); + let alt_curr = aa1_to_aa3(alt_curr_char).to_string(); // Find first stop in alt_aa starting from start_idx let mut stop_idx = None; @@ -168,7 +198,8 @@ impl<'a> AltSeqToHgvsp<'a> { } // 1. Check for Nonsense (Substitution to Ter) - if alt_chars.get(start_idx) == Some(&'*') { + // Only classify as Nonsense if the stop codon is part of the mismatch (not the preserved tail). + if alt_chars.get(start_idx) == Some(&'*') && start_idx < alt_end { let ref_curr = aa1_to_aa3(ref_chars.get(start_idx).cloned().unwrap_or('*')).to_string(); return self.create_variant( ProteinPos(start_idx as i32), @@ -388,6 +419,26 @@ impl<'a> AltSeqToHgvsp<'a> { }) } + fn build_identity_variant(&self) -> Result { + let ref_chars: Vec = self.ref_aa.chars().collect(); + let start_0 = self.alt_data.variant_start_aa.unwrap_or(ProteinPos(0)); + let end_0 = { + let cds_start = self.alt_data.cds_start_index.0 as i32; + let start_idx = self.alt_data.variant_start_idx as i32; + let end_idx = self.alt_data.variant_end_idx as i32; + let s0 = ProteinPos(((start_idx - cds_start).max(0) / 3) as i32); + let e0_raw = ((end_idx - 1 - cds_start).max(0) / 3) as i32; + let e0 = ProteinPos(e0_raw.min(ref_chars.len() as i32 - 1)); + if e0.0 > s0.0 { + Some(e0) + } else { + None + } + }; + + self.create_variant(start_0, end_0, None, None, None, None, false, true) + } + #[allow(clippy::too_many_arguments)] fn create_variant( &self, diff --git a/hgvs-weaver/src/analogous_edit.rs b/hgvs-weaver/src/analogous_edit.rs new file mode 100644 index 0000000..a30e22c --- /dev/null +++ b/hgvs-weaver/src/analogous_edit.rs @@ -0,0 +1,553 @@ +use crate::error::HgvsError; +use crate::structs::{AaEdit, NaEdit}; +use crate::utils::{decompose_aa, normalize_aa}; +use std::collections::{BTreeMap, HashMap, HashSet}; + +#[derive(Debug, Clone, PartialEq, Eq, PartialOrd, Ord)] +pub enum ResidueToken { + Known(String), + Unknown(i32), + Any, // Reference position + Wildcard, // Matches any sequence of length 0 or more (for shorthand frameshifts) +} + +impl ResidueToken { + pub fn is_known(&self) -> bool { + matches!(self, Self::Known(_)) + } + + pub fn unwrap_known(&self) -> String { + match self { + Self::Known(s) => s.clone(), + Self::Unknown(p) => format!("Ref({})", p), + Self::Any => "?".to_string(), + Self::Wildcard => ".*".to_string(), + } + } + + pub fn normalized_symbol(&self) -> Option { + match self { + Self::Known(s) => Some(normalize_aa(s)), + Self::Unknown(_) => None, + Self::Any => None, + Self::Wildcard => None, + } + } +} + +#[derive(Debug)] +pub struct SparseReference { + pub data: BTreeMap, +} + +impl SparseReference { + pub fn new() -> Self { + Self { + data: BTreeMap::new(), + } + } + + pub fn set(&mut self, pos: i32, symbol: String) -> Result<(), HgvsError> { + let symbol_clean = normalize_aa(&symbol); + if let Some(existing) = self.data.get(&pos) { + match existing { + ResidueToken::Known(ex) => { + let existing_clean = normalize_aa(ex); + if existing_clean != symbol_clean { + return Err(HgvsError::Other(format!( + "Consistency error at position {}: {} != {}", + pos, ex, symbol + ))); + } + } + ResidueToken::Unknown(_) | ResidueToken::Any | ResidueToken::Wildcard => {} + } + } + self.data.insert(pos, ResidueToken::Known(symbol)); + Ok(()) + } + + pub fn merge(&mut self, other: &Self) -> Result<(), HgvsError> { + for (pos, token) in &other.data { + if let ResidueToken::Known(symbol) = token { + self.set(*pos, symbol.clone())?; + } + } + Ok(()) + } + + pub fn project_range(&self, start: i32, end: i32) -> ProjectedSequence { + let tokens = (start..=end) + .map(|p| { + self.data + .get(&p) + .cloned() + .unwrap_or(ResidueToken::Unknown(p)) + }) + .collect(); + ProjectedSequence(tokens) + } + + pub fn get_range(&self) -> Vec<(i32, ResidueToken)> { + if self.data.is_empty() { + return Vec::new(); + } + let min_p = *self.data.keys().next().unwrap(); + let max_p = *self.data.keys().last().unwrap(); + (min_p..=max_p) + .map(|p| { + ( + p, + self.data + .get(&p) + .cloned() + .unwrap_or(ResidueToken::Unknown(p)), + ) + }) + .collect() + } +} + +#[derive(Debug)] +pub struct ProjectedSequence(pub Vec); + +impl ProjectedSequence { + pub fn trim_at_stop(self) -> Self { + let mut trimmed = Vec::new(); + for token in self.0 { + if let Some(s) = token.normalized_symbol() { + if s.contains('*') { + break; + } + } + trimmed.push(token.clone()); + } + ProjectedSequence(trimmed) + } + + pub fn is_analogous_to(&self, other: &Self) -> bool { + reconcile_projections(&self.0, &other.0) + } + + pub fn len(&self) -> usize { + self.0.len() + } + + pub fn is_empty(&self) -> bool { + self.0.is_empty() + } +} + +pub fn apply_aa_edit_to_sparse( + edit: &AaEdit, + start: i32, + end: i32, + sref: &SparseReference, +) -> ProjectedSequence { + let mut res = Vec::new(); + + match edit { + AaEdit::Subst { alt, .. } => { + if let Ok(aas) = decompose_aa(alt) { + res.extend(aas.into_iter().map(|r| ResidueToken::Known(r.to_string()))); + } + } + AaEdit::Del { .. } => {} + AaEdit::Ins { alt, .. } => { + if let Ok(aas) = decompose_aa(alt) { + res.extend(aas.into_iter().map(|r| ResidueToken::Known(r.to_string()))); + } + } + AaEdit::DelIns { alt, .. } => { + if let Ok(aas) = decompose_aa(alt) { + res.extend(aas.into_iter().map(|r| ResidueToken::Known(r.to_string()))); + } + } + AaEdit::RefAlt { alt, .. } => { + if let Some(alt) = alt { + if let Ok(aas) = decompose_aa(alt) { + res.extend(aas.into_iter().map(|r| ResidueToken::Known(r.to_string()))); + } + } + } + AaEdit::Dup { .. } => { + res.extend(sref.project_range(start, end).0); + res.extend(sref.project_range(start, end).0); + } + AaEdit::Repeat { max, .. } => { + for _ in 0..*max { + res.extend(sref.project_range(start, end).0); + } + } + AaEdit::Ext { alt, .. } => { + if let Ok(aas) = decompose_aa(alt) { + res.extend(aas.into_iter().map(|r| ResidueToken::Known(r.to_string()))); + } + } + AaEdit::Fs { + alt, length, term, .. + } => { + let alt_tokens = if let Ok(aas) = decompose_aa(alt) { + aas.into_iter() + .map(|r| ResidueToken::Known(r.to_string())) + .collect::>() + } else { + Vec::new() + }; + + let term_token = term + .as_ref() + .map(|t| ResidueToken::Known(normalize_aa(t).to_string())); + + let total_len = length.as_ref().and_then(|l| l.parse::().ok()); + + if let Some(tlen) = total_len { + // Explicit length: Alt + Gap + Term + let alt_len = alt_tokens.len(); + let term_len = if term_token.is_some() { 1 } else { 0 }; + + res.extend(alt_tokens); + + if tlen > alt_len + term_len { + let gap_len = tlen - alt_len - term_len; + for _ in 0..gap_len { + res.push(ResidueToken::Any); + } + } + + if let Some(t) = term_token { + res.push(t); + } + } else { + // Fallback: Just Alt + res.extend(alt_tokens); + // Mark as open-ended so it can match explicit full-form variants + res.push(ResidueToken::Wildcard); + } + } + AaEdit::Identity { .. } => { + res.extend(sref.project_range(start, end).0); + } + AaEdit::Special { value, .. } if value == "=" => { + res.extend(sref.project_range(start, end).0); + } + _ => {} + } + + ProjectedSequence(res) +} + +pub fn project_aa_variant( + edit: &AaEdit, + edit_start: i32, + mut edit_end: i32, + view_start: i32, + view_end: i32, + sref: &SparseReference, +) -> ProjectedSequence { + let original_edit_end = edit_end; + if let AaEdit::Repeat { .. } = edit { + let unit = sref.project_range(edit_start, edit_end).0; + let unit_len = unit.len() as i32; + if unit_len > 0 { + loop { + let next_start = edit_end + 1; + let next_end = edit_end + unit_len; + let next_unit = sref.project_range(next_start, next_end).0; + + let mut matched = next_unit.len() == unit.len(); + for (a, b) in next_unit.iter().zip(unit.iter()) { + if a.normalized_symbol() != b.normalized_symbol() + || a.normalized_symbol().is_none() + { + matched = false; + break; + } + } + + if matched { + edit_end = next_end; + } else { + break; + } + } + } + } + + let mut res = Vec::new(); + let is_insert_point = matches!(edit, AaEdit::Ins { .. }); + + let (prefix_end, suffix_start) = if is_insert_point { + if edit_start == edit_end { + (edit_start, edit_end + 1) + } else { + (edit_start, edit_end) + } + } else { + (edit_start - 1, edit_end + 1) + }; + + if view_start <= prefix_end { + res.extend(sref.project_range(view_start, prefix_end).0); + } + + res.extend(apply_aa_edit_to_sparse(edit, edit_start, original_edit_end, sref).0); + + if suffix_start <= view_end { + res.extend(sref.project_range(suffix_start, view_end).0); + } + + ProjectedSequence(res) +} + +pub fn apply_na_edit_to_sparse( + edit: &NaEdit, + start: i32, + end: i32, + sref: &SparseReference, +) -> ProjectedSequence { + let mut res = Vec::new(); + match edit { + NaEdit::RefAlt { alt, .. } => { + if let Some(alt) = alt { + for c in alt.chars() { + res.push(ResidueToken::Known(c.to_string())); + } + } + } + NaEdit::Del { .. } => {} + NaEdit::Ins { alt, .. } => { + if let Some(alt) = alt { + for c in alt.chars() { + res.push(ResidueToken::Known(c.to_string())); + } + } + } + NaEdit::Dup { .. } => { + res.extend(sref.project_range(start, end).0); + res.extend(sref.project_range(start, end).0); + } + NaEdit::Inv { .. } => { + let ref_tokens = sref.project_range(start, end).0; + // Iterate in reverse and complement + for t in ref_tokens.iter().rev() { + match t { + ResidueToken::Known(s) => { + // normalized_symbol returns uppercase 1-letter code + // We need to complement it. + // utils::complement_dna_char works on char. + // Assuming s is single char? + let rc: String = s.chars().map(crate::utils::complement_dna_char).collect(); + res.push(ResidueToken::Known(rc)); + } + ResidueToken::Unknown(_) => res.push(t.clone()), + ResidueToken::Any => res.push(ResidueToken::Any), + ResidueToken::Wildcard => res.push(ResidueToken::Wildcard), + } + } + } + NaEdit::Repeat { max, .. } => { + for _ in 0..*max { + res.extend(sref.project_range(start, end).0); + } + } + _ => {} + } + ProjectedSequence(res) +} + +pub fn project_na_variant( + edit: &NaEdit, + edit_start: i32, + mut edit_end: i32, + view_start: i32, + view_end: i32, + sref: &SparseReference, +) -> ProjectedSequence { + let original_edit_end = edit_end; + if let NaEdit::Repeat { .. } = edit { + let unit = sref.project_range(edit_start, edit_end).0; + let unit_len = unit.len() as i32; + if unit_len > 0 { + loop { + let next_start = edit_end + 1; + let next_end = edit_end + unit_len; + let next_unit = sref.project_range(next_start, next_end).0; + + let mut matched = next_unit.len() == unit.len(); + for (a, b) in next_unit.iter().zip(unit.iter()) { + if a.is_known() + && b.is_known() + && a.unwrap_known().to_uppercase() == b.unwrap_known().to_uppercase() + { + continue; + } else { + matched = false; + break; + } + } + + if matched { + edit_end = next_end; + } else { + break; + } + } + } + } + + let mut res = Vec::new(); + let is_insert_point = matches!(edit, NaEdit::Ins { .. }); + + let (prefix_end, suffix_start) = if is_insert_point { + if edit_start == edit_end { + (edit_start, edit_end + 1) + } else { + (edit_start, edit_end) + } + } else { + (edit_start - 1, edit_end + 1) + }; + + if view_start <= prefix_end { + res.extend(sref.project_range(view_start, prefix_end).0); + } + + res.extend(apply_na_edit_to_sparse(edit, edit_start, original_edit_end, sref).0); + + if suffix_start <= view_end { + res.extend(sref.project_range(suffix_start, view_end).0); + } + + ProjectedSequence(res) +} + +struct UnificationEnv { + aliases: HashMap, +} + +impl UnificationEnv { + fn new() -> Self { + Self { + aliases: HashMap::new(), + } + } + + fn resolve(&self, t: &ResidueToken) -> ResidueToken { + match t { + ResidueToken::Known(_) | ResidueToken::Any | ResidueToken::Wildcard => t.clone(), + ResidueToken::Unknown(p) => { + let mut curr_p = *p; + let mut visited = HashSet::new(); + visited.insert(curr_p); + while let Some(next) = self.aliases.get(&curr_p) { + match next { + ResidueToken::Known(_) | ResidueToken::Any | ResidueToken::Wildcard => { + return next.clone() + } + ResidueToken::Unknown(next_p) => { + if visited.contains(next_p) { + break; + } + curr_p = *next_p; + visited.insert(curr_p); + } + } + } + ResidueToken::Unknown(curr_p) + } + } + } + + fn unify(&mut self, t1: &ResidueToken, t2: &ResidueToken) -> bool { + let r1 = self.resolve(t1); + let r2 = self.resolve(t2); + + match (r1, r2) { + (ResidueToken::Any, _) | (_, ResidueToken::Any) => true, + (ResidueToken::Wildcard, _) | (_, ResidueToken::Wildcard) => true, + (ResidueToken::Known(k1), ResidueToken::Known(k2)) => { + let d1 = decompose_aa(&k1); + let d2 = decompose_aa(&k2); + if let (Ok(r1), Ok(r2)) = (d1, d2) { + r1 == r2 + } else { + normalize_aa(&k1) == normalize_aa(&k2) + } + } + (ResidueToken::Unknown(p1), ResidueToken::Known(k2)) => { + self.aliases.insert(p1, ResidueToken::Known(k2)); + true + } + (ResidueToken::Known(k1), ResidueToken::Unknown(p2)) => { + self.aliases.insert(p2, ResidueToken::Known(k1)); + true + } + (ResidueToken::Unknown(p1), ResidueToken::Unknown(p2)) => { + if p1 != p2 { + self.aliases.insert(p1, ResidueToken::Unknown(p2)); + } + true + } + } + } +} + +pub fn reconcile_projections(v1: &[ResidueToken], v2: &[ResidueToken]) -> bool { + let mut env = UnificationEnv::new(); + + let mut i = 0; + while i < v1.len() && i < v2.len() { + let t1 = &v1[i]; + let t2 = &v2[i]; + + if matches!(t1, ResidueToken::Wildcard) || matches!(t2, ResidueToken::Wildcard) { + return true; // Matches the rest + } + + if !env.unify(t1, t2) { + return false; + } + i += 1; + } + + // If one is longer, it must be because the other ended with a Wildcard + // or they are same length. + if i < v1.len() || i < v2.len() { + // Zip only goes to the shortest. We check if the last processed was Wildcard. + // Actually the loop handles it. If we reached here without a Wildcard, + // then they must have same length. + return v1.len() == v2.len(); + } + + // Second pass: verify consistency for the common part + for j in 0..i { + let r1 = env.resolve(&v1[j]); + let r2 = env.resolve(&v2[j]); + + match (r1, r2) { + (ResidueToken::Any, _) | (_, ResidueToken::Any) => {} + (ResidueToken::Wildcard, _) | (_, ResidueToken::Wildcard) => break, + (ResidueToken::Known(k1), ResidueToken::Known(k2)) => { + let d1 = decompose_aa(&k1); + let d2 = decompose_aa(&k2); + if let (Ok(r1), Ok(r2)) = (d1, d2) { + if r1 != r2 { + return false; + } + } else { + if normalize_aa(&k1) != normalize_aa(&k2) { + return false; + } + } + } + (ResidueToken::Unknown(_), ResidueToken::Known(_)) + | (ResidueToken::Known(_), ResidueToken::Unknown(_)) => { + return false; + } + (ResidueToken::Unknown(_), ResidueToken::Unknown(_)) => {} + } + } + + true +} diff --git a/hgvs-weaver/src/edits.rs b/hgvs-weaver/src/edits.rs index 868721f..629477e 100644 --- a/hgvs-weaver/src/edits.rs +++ b/hgvs-weaver/src/edits.rs @@ -112,6 +112,16 @@ pub enum AaEdit { None, } +impl AaEdit { + pub fn is_identity(&self) -> bool { + match self { + AaEdit::Identity { .. } => true, + AaEdit::Special { value, .. } if value == "=" => true, + _ => false, + } + } +} + impl NaEdit { /// Calculates deletion and insertion lengths for the edit. pub fn del_ins_lengths(&self, ilen: i32) -> Result<(i32, i32), HgvsError> { diff --git a/hgvs-weaver/src/equivalence.rs b/hgvs-weaver/src/equivalence.rs index 589713e..2080829 100644 --- a/hgvs-weaver/src/equivalence.rs +++ b/hgvs-weaver/src/equivalence.rs @@ -1,10 +1,32 @@ +use crate::analogous_edit::{project_aa_variant, project_na_variant, SparseReference}; use crate::data::{DataProvider, IdentifierKind, TranscriptSearch}; use crate::error::HgvsError; use crate::mapper::VariantMapper; use crate::structs::{ - BaseOffsetInterval, BaseOffsetPosition, GVariant, GenomicPos, NaEdit, PVariant, - SequenceVariant, SimpleInterval, SimplePosition, TranscriptPos, Variant, + BaseOffsetInterval, BaseOffsetPosition, GVariant, GenomicPos, IntervalSpdi, IntronicOffset, + NaEdit, PVariant, SequenceVariant, SimpleInterval, SimplePosition, TranscriptPos, Variant, }; +use crate::utils::decompose_aa; + +#[derive(Debug, Clone, Copy, PartialEq, Eq)] +pub enum EquivalenceLevel { + /// Identical notation after basic normalization. + Identity, + /// Biologically identical but different notation (e.g., ins vs dup). + Analogous, + /// Definitively different edits/outcomes. + Different, + /// Missing data or unsupported variant type for comparison. + Unknown, +} + +impl EquivalenceLevel { + pub fn is_equivalent(&self) -> bool { + matches!(self, Self::Identity | Self::Analogous) + } +} + +// Migrated to analogous_edit.rs pub struct VariantEquivalence<'a> { pub hdp: &'a dyn DataProvider, @@ -26,18 +48,352 @@ impl<'a> VariantEquivalence<'a> { var1: &SequenceVariant, var2: &SequenceVariant, ) -> Result { + Ok(self.equivalent_level(var1, var2)?.is_equivalent()) + } + + pub fn equivalent_level( + &self, + var1: &SequenceVariant, + var2: &SequenceVariant, + ) -> Result { // Expand gene symbols if present let vars1 = self.expand_if_gene_symbol(var1)?; let vars2 = self.expand_if_gene_symbol(var2)?; for v1 in &vars1 { for v2 in &vars2 { - if self.are_equivalent_single(v1, v2)? { - return Ok(true); + let lvl = self.equivalent_level_single(v1, v2)?; + if lvl.is_equivalent() { + return Ok(lvl); } } } - Ok(false) + Ok(EquivalenceLevel::Different) + } + + fn equivalent_level_single( + &self, + var1: &SequenceVariant, + var2: &SequenceVariant, + ) -> Result { + // 1. Strict Check (after normalization) + if self.normalize_format(&var1.to_string()) == self.normalize_format(&var2.to_string()) { + return Ok(EquivalenceLevel::Identity); + } + + // 2. Build and Merge Sparse References + let s1 = self.get_ref_for_variant(var1); + let s2 = self.get_ref_for_variant(var2); + let mut merged = s1; + if let Err(_) = merged.merge(&s2) { + return Ok(EquivalenceLevel::Different); // Inconsistent references + } + + // 3. Project and Compare Outcomes + match (var1, var2) { + (SequenceVariant::Protein(p1), SequenceVariant::Protein(p2)) => { + let pos1_opt = &p1.posedit.pos; + let pos2_opt = &p2.posedit.pos; + + // Handle global identity (p.=) vs positional variant + let (start1, end1, edit1, start2, end2, edit2) = match (pos1_opt, pos2_opt) { + (Some(pos1), Some(pos2)) => { + let s1 = pos1.start.base.to_index().0; + let e1 = self.get_effective_end(p1, s1); + let s2 = pos2.start.base.to_index().0; + let e2 = self.get_effective_end(p2, s2); + (s1, e1, &p1.posedit.edit, s2, e2, &p2.posedit.edit) + } + (Some(pos1), None) if p2.posedit.edit.is_identity() => { + let s1 = pos1.start.base.to_index().0; + let e1 = self.get_effective_end(p1, s1); + // Synthesize p2 interval to match p1 + (s1, e1, &p1.posedit.edit, s1, e1, &p2.posedit.edit) + } + (None, Some(pos2)) if p1.posedit.edit.is_identity() => { + let s2 = pos2.start.base.to_index().0; + let e2 = self.get_effective_end(p2, s2); + // Synthesize p1 interval to match p2 + (s2, e2, &p1.posedit.edit, s2, e2, &p2.posedit.edit) + } + _ => { + // Fallback to cross-type comparison logic which handles non-projected cases + if self.are_equivalent_single(var1, var2)? { + return Ok(EquivalenceLevel::Analogous); + } + return Ok(EquivalenceLevel::Different); + } + }; + + let min_pos = start1.min(start2); + let max_pos = end1.max(end2); + + let res1 = project_aa_variant(edit1, start1, end1, min_pos, max_pos, &merged) + .trim_at_stop(); + let res2 = project_aa_variant(edit2, start2, end2, min_pos, max_pos, &merged) + .trim_at_stop(); + + let is_analogous = res1.is_analogous_to(&res2); + + if is_analogous { + return Ok(EquivalenceLevel::Analogous); + } + } + (SequenceVariant::Coding(c1), SequenceVariant::Coding(c2)) => { + if let (Some(pos1), Some(pos2)) = (&c1.posedit.pos, &c2.posedit.pos) { + let mut i1 = pos1.spdi_interval(&c1.ac, self.hdp)?; + let mut i2 = pos2.spdi_interval(&c2.ac, self.hdp)?; + + let t1 = self.hdp.get_transcript(&c1.ac, None)?; + let edit1 = if t1.strand() == -1 { + c1.posedit.edit.reverse_complement() + } else { + c1.posedit.edit.clone() + }; + + let t2 = self.hdp.get_transcript(&c2.ac, None)?; + let edit2 = if t2.strand() == -1 { + c2.posedit.edit.reverse_complement() + } else { + c2.posedit.edit.clone() + }; + + if matches!(c1.posedit.edit, NaEdit::Ins { .. }) { + if let Some(e) = &pos1.end { + let g1 = self.hdp.c_to_g( + &c1.ac, + pos1.start.base.to_index(), + pos1.start.offset.unwrap_or(IntronicOffset(0)), + )?; + let g2 = self.hdp.c_to_g( + &c1.ac, + e.base.to_index(), + e.offset.unwrap_or(IntronicOffset(0)), + )?; + let p = g1.1 .0.min(g2.1 .0); // keep consistent with spdi_interval which is currently 1-based + i1 = (p, p + 1, g1.0); + } + } + if matches!(c2.posedit.edit, NaEdit::Ins { .. }) { + if let Some(e) = &pos2.end { + let g1 = self.hdp.c_to_g( + &c2.ac, + pos2.start.base.to_index(), + pos2.start.offset.unwrap_or(IntronicOffset(0)), + )?; + let g2 = self.hdp.c_to_g( + &c2.ac, + e.base.to_index(), + e.offset.unwrap_or(IntronicOffset(0)), + )?; + let p = g1.1 .0.min(g2.1 .0); // keep consistent with spdi_interval + i2 = (p, p + 1, g1.0); + } + } + + let (start1, end1, _) = i1; + let (start2, end2, _) = i2; + + let min_pos = start1.min(start2).saturating_sub(2); + let max_pos = end1.max(end2) + 2; + + let res1 = + project_na_variant(&edit1, start1, end1 - 1, min_pos, max_pos - 1, &merged); + let res2 = + project_na_variant(&edit2, start2, end2 - 1, min_pos, max_pos - 1, &merged); + + if res1.is_analogous_to(&res2) { + return Ok(EquivalenceLevel::Analogous); + } + } + } + (SequenceVariant::NonCoding(n1), SequenceVariant::NonCoding(n2)) => { + if let (Some(pos1), Some(pos2)) = (&n1.posedit.pos, &n2.posedit.pos) { + let mut i1 = pos1.spdi_interval(&n1.ac, self.hdp)?; + let mut i2 = pos2.spdi_interval(&n2.ac, self.hdp)?; + + let t1 = self.hdp.get_transcript(&n1.ac, None)?; + let edit1 = if t1.strand() == -1 { + n1.posedit.edit.reverse_complement() + } else { + n1.posedit.edit.clone() + }; + + let t2 = self.hdp.get_transcript(&n2.ac, None)?; + let edit2 = if t2.strand() == -1 { + n2.posedit.edit.reverse_complement() + } else { + n2.posedit.edit.clone() + }; + + if matches!(n1.posedit.edit, NaEdit::Ins { .. }) { + if let Some(e) = &pos1.end { + let g1 = self.hdp.c_to_g( + &n1.ac, + pos1.start.base.to_index(), + pos1.start.offset.unwrap_or(IntronicOffset(0)), + )?; + let g2 = self.hdp.c_to_g( + &n1.ac, + e.base.to_index(), + e.offset.unwrap_or(IntronicOffset(0)), + )?; + let p = g1.1 .0.min(g2.1 .0); + i1 = (p, p + 1, g1.0); + } + } + if matches!(n2.posedit.edit, NaEdit::Ins { .. }) { + if let Some(e) = &pos2.end { + let g1 = self.hdp.c_to_g( + &n2.ac, + pos2.start.base.to_index(), + pos2.start.offset.unwrap_or(IntronicOffset(0)), + )?; + let g2 = self.hdp.c_to_g( + &n2.ac, + e.base.to_index(), + e.offset.unwrap_or(IntronicOffset(0)), + )?; + let p = g1.1 .0.min(g2.1 .0); + i2 = (p, p + 1, g1.0); + } + } + + let (start1, end1, _) = i1; + let (start2, end2, _) = i2; + + let min_pos = start1.min(start2).saturating_sub(2); + let max_pos = end1.max(end2) + 2; + + let res1 = + project_na_variant(&edit1, start1, end1 - 1, min_pos, max_pos - 1, &merged); + let res2 = + project_na_variant(&edit2, start2, end2 - 1, min_pos, max_pos - 1, &merged); + + if res1.is_analogous_to(&res2) { + return Ok(EquivalenceLevel::Analogous); + } + } + } + _ => { + // Fallback to existing logic for cross-type comparison + if self.are_equivalent_single(var1, var2)? { + if self.is_cross_type_identity(var1, var2) { + return Ok(EquivalenceLevel::Identity); + } + return Ok(EquivalenceLevel::Analogous); + } + } + } + + Ok(EquivalenceLevel::Different) + } + + fn is_cross_type_identity(&self, var1: &SequenceVariant, var2: &SequenceVariant) -> bool { + match (var1, var2) { + (SequenceVariant::Coding(vc), SequenceVariant::Protein(vp)) + | (SequenceVariant::Protein(vp), SequenceVariant::Coding(vc)) => { + if let Ok(vp_generated) = self.mapper.c_to_p(vc, Some(&vp.ac)) { + vp_generated.to_string() == vp.to_string() + } else { + false + } + } + (SequenceVariant::Genomic(vg), SequenceVariant::Coding(vc)) + | (SequenceVariant::Coding(vc), SequenceVariant::Genomic(vg)) => { + if let Ok(tx) = self.hdp.get_transcript(&vc.ac, None) { + if let Ok(vg_generated) = self.mapper.c_to_g(vc, Some(tx.reference_accession())) + { + vg_generated.to_string() == vg.to_string() + } else { + false + } + } else { + false + } + } + (SequenceVariant::Genomic(vg), SequenceVariant::NonCoding(vn)) + | (SequenceVariant::NonCoding(vn), SequenceVariant::Genomic(vg)) => { + if let Ok(tx) = self.hdp.get_transcript(&vn.ac, None) { + if let Ok(vg_generated) = self.mapper.n_to_g(vn, Some(tx.reference_accession())) + { + vg_generated.to_string() == vg.to_string() + } else { + false + } + } else { + false + } + } + (SequenceVariant::NonCoding(vn), SequenceVariant::Protein(vp)) + | (SequenceVariant::Protein(vp), SequenceVariant::NonCoding(vn)) => { + if let Ok(tx) = self.hdp.get_transcript(&vn.ac, None) { + if let Ok(vg_generated) = self.mapper.n_to_g(vn, Some(tx.reference_accession())) + { + if let Ok(c_variants) = self.mapper.g_to_c_all(&vg_generated, self.searcher) + { + for vc in c_variants { + if let Ok(vp_generated) = self.mapper.c_to_p(&vc, Some(&vp.ac)) { + if vp_generated.to_string() == vp.to_string() { + return true; + } + } + } + } + } + } + false + } + _ => false, + } + } + + fn get_effective_end(&self, vp: &PVariant, start: i32) -> i32 { + let mut end = vp.posedit.pos.as_ref().map_or(start, |pos| { + pos.end.as_ref().map_or(start, |e| e.base.to_index().0) + }); + + if let crate::structs::AaEdit::Repeat { ref_: Some(s), .. } = &vp.posedit.edit { + let len = s.len() as i32; + if end - start + 1 < len { + end = start + len - 1; + } + } + end + } + + fn get_ref_for_variant(&self, var: &SequenceVariant) -> SparseReference { + let mut s = SparseReference::new(); + match var { + SequenceVariant::Protein(vp) => { + if let Ok(seq) = + self.hdp + .get_seq(&vp.ac, 0, -1, crate::data::IdentifierType::ProteinAccession) + { + if let Ok(aas) = decompose_aa(&seq) { + for (i, aa) in aas.iter().enumerate() { + let _ = s.set(i as i32, aa.to_string()); + } + } + } + } + SequenceVariant::Coding(vc) => { + if let Some(pos) = &vc.posedit.pos { + if let Ok((start, end, spdi_ac)) = pos.spdi_interval(&vc.ac, self.hdp) { + if let Ok(seq) = self.hdp.get_seq( + &spdi_ac, + start, + end, + crate::data::IdentifierType::GenomicAccession, + ) { + let _ = s.set(start, seq); + } + } + } + } + _ => {} + } + s } /// Fills in missing sequence information for deletions and duplications. @@ -656,9 +1012,43 @@ impl<'a> VariantEquivalence<'a> { fn p_vs_p_equivalent(&self, v1: &PVariant, v2: &PVariant) -> Result { if v1.ac == v2.ac { - return Ok( - self.normalize_format(&v1.to_string()) == self.normalize_format(&v2.to_string()) - ); + if self.normalize_format(&v1.to_string()) == self.normalize_format(&v2.to_string()) { + return Ok(true); + } + + if let (Some(pos1), Some(pos2)) = (&v1.posedit.pos, &v2.posedit.pos) { + let start1 = pos1.start.base.to_index().0; + let end1 = self.get_effective_end(v1, start1); + + let start2 = pos2.start.base.to_index().0; + let end2 = self.get_effective_end(v2, start2); + + let min_pos = start1.min(start2).saturating_sub(2); + let max_pos = end1.max(end2) + 2; + + let mut sref = self.get_ref_for_variant(&SequenceVariant::Protein(v1.clone())); + let sref2 = self.get_ref_for_variant(&SequenceVariant::Protein(v2.clone())); + sref.merge(&sref2)?; + + let res1 = crate::analogous_edit::project_aa_variant( + &v1.posedit.edit, + start1, + end1, + min_pos, + max_pos, + &sref, + ); + let res2 = crate::analogous_edit::project_aa_variant( + &v2.posedit.edit, + start2, + end2, + min_pos, + max_pos, + &sref, + ); + + return Ok(res1.is_analogous_to(&res2)); + } } Ok(false) } diff --git a/hgvs-weaver/src/fmt.rs b/hgvs-weaver/src/fmt.rs index 41788e0..529523b 100644 --- a/hgvs-weaver/src/fmt.rs +++ b/hgvs-weaver/src/fmt.rs @@ -265,7 +265,12 @@ impl fmt::Display for AAPosition { if self.uncertain { write!(f, "(")?; } - write!(f, "{}{}", self.aa, self.base.0)?; + let aa_normalized = if self.aa.len() == 1 { + aa1_to_aa3(self.aa.chars().next().unwrap()) + } else { + &self.aa + }; + write!(f, "{}{}", aa_normalized, self.base.0)?; if self.uncertain { write!(f, ")")?; } @@ -367,8 +372,14 @@ impl fmt::Display for AaEdit { fn fmt(&self, f: &mut fmt::Formatter) -> fmt::Result { match self { AaEdit::Subst { alt, .. } => { - let a3 = if alt == "*" { "Ter" } else { alt }; - write!(f, "{}", a3) + let alt_normalized = if alt.len() == 1 { + aa1_to_aa3(alt.chars().next().unwrap()) + } else if alt == "*" { + "Ter" + } else { + alt + }; + write!(f, "{}", alt_normalized) } AaEdit::Del { ref_, .. } => { write!(f, "del")?; @@ -410,25 +421,68 @@ impl fmt::Display for AaEdit { AaEdit::Fs { alt, term, length, .. } => { - let a3 = if alt == "*" { "Ter" } else { alt }; - if a3.is_empty() { + let alt_normalized = if alt.len() == 1 { + aa1_to_aa3(alt.chars().next().unwrap()) + } else if alt == "*" { + "Ter" + } else { + alt + }; + if alt_normalized.is_empty() { write!(f, "fs")?; } else { - write!(f, "{}fs{}", a3, term.as_deref().unwrap_or(""))?; + let term_normalized = term.as_deref().map(|t| { + if t.len() == 1 { + aa1_to_aa3(t.chars().next().unwrap()) + } else if t == "*" { + "Ter" + } else { + t + } + }); + write!(f, "{}fs{}", alt_normalized, term_normalized.unwrap_or(""))?; } if let Some(l) = length { write!(f, "{}", l)?; } Ok(()) } - AaEdit::Ext { alt, length, .. } => { - let a3 = if alt == "*" { "Ter" } else { alt }; - write!(f, "ext*{}", a3)?; + AaEdit::Ext { + alt, + length, + aaterm, + .. + } => { + let alt_normalized = if alt.len() == 1 { + aa1_to_aa3(alt.chars().next().unwrap()) + } else { + alt + }; + write!(f, "{}ext", alt_normalized)?; + if let Some(t) = aaterm { + let t_normalized = if t.len() == 1 { + aa1_to_aa3(t.chars().next().unwrap()) + } else { + t + }; + write!(f, "{}", t_normalized)?; + } if let Some(l) = length { write!(f, "{}", l)?; } Ok(()) } + AaEdit::Repeat { ref_, min, max, .. } => { + if let Some(r) = ref_ { + write!(f, "{}", r)?; + } + if min == max { + write!(f, "[{}]", min)?; + } else { + write!(f, "[{}_{}]", min, max)?; + } + Ok(()) + } AaEdit::Special { value, .. } => write!(f, "{}", value), _ => write!(f, "unknown_aa_edit"), } diff --git a/hgvs-weaver/src/lib.rs b/hgvs-weaver/src/lib.rs index fc242cd..e431845 100644 --- a/hgvs-weaver/src/lib.rs +++ b/hgvs-weaver/src/lib.rs @@ -145,6 +145,7 @@ fn parse_gene_expr(pair: pest::iterators::Pair) -> Option { pub mod altseq; pub mod altseq_to_hgvsp; +pub mod analogous_edit; pub mod cigar; pub mod coords; pub mod data; diff --git a/hgvs-weaver/src/mapper.rs b/hgvs-weaver/src/mapper.rs index c657ae9..5995ed7 100644 --- a/hgvs-weaver/src/mapper.rs +++ b/hgvs-weaver/src/mapper.rs @@ -425,6 +425,8 @@ impl<'a> VariantMapper<'a> { let hgvsp_builder = AltSeqToHgvsp { ref_aa, + ref_cds_start_idx: cds_start_idx, + ref_cds_end_idx: cds_end_idx, alt_data: &alt_data, }; let mut var_p = hgvsp_builder.build_hgvsp()?; @@ -480,11 +482,12 @@ impl<'a> VariantMapper<'a> { } crate::SequenceVariant::Genomic(mut v_g) => { if let Some(pos) = &mut v_g.posedit.pos { - let start_idx = pos.start.base.to_index().0 as usize; + let mut start_idx = pos.start.base.to_index().0 as usize; let is_ins = matches!(&v_g.posedit.edit, crate::edits::NaEdit::Ins { .. }); let end_idx = pos.end.as_ref().map_or(start_idx + 1, |e| { let idx = e.base.to_index().0 as usize; if is_ins { + start_idx = idx; idx } else { idx + 1 diff --git a/hgvs-weaver/src/sequence.rs b/hgvs-weaver/src/sequence.rs index d27d6fc..1618f7b 100644 --- a/hgvs-weaver/src/sequence.rs +++ b/hgvs-weaver/src/sequence.rs @@ -308,9 +308,6 @@ impl<'a> Iterator for TranslateIterator<'a> { _ => 'X', }; - if aa == '*' { - self.done = true; - } Some(aa) } } diff --git a/hgvs-weaver/src/structs.rs b/hgvs-weaver/src/structs.rs index 58de305..451f440 100644 --- a/hgvs-weaver/src/structs.rs +++ b/hgvs-weaver/src/structs.rs @@ -173,7 +173,7 @@ impl IntervalSpdi for BaseOffsetInterval { let g_end = if let Some(e) = &self.end { data_provider.c_to_g(ac, e.base.to_index(), e.offset.unwrap_or(IntronicOffset(0)))? } else { - (g_start.0.clone(), GenomicPos(g_start.1 .0 + 1)) + g_start.clone() }; if g_start.0 != g_end.0 { @@ -181,8 +181,10 @@ impl IntervalSpdi for BaseOffsetInterval { "Interval spans multiple genomic accessions".into(), )); } + let s = g_start.1 .0.min(g_end.1 .0); + let e = g_start.1 .0.max(g_end.1 .0) + 1; - Ok((g_start.1 .0, g_end.1 .0, g_start.0)) + Ok((s, e, g_start.0)) } } diff --git a/hgvs-weaver/src/utils.rs b/hgvs-weaver/src/utils.rs index a455a64..a8d0022 100644 --- a/hgvs-weaver/src/utils.rs +++ b/hgvs-weaver/src/utils.rs @@ -1,3 +1,69 @@ +use crate::error::HgvsError; +use std::fmt::{self, Display, Formatter}; + +#[derive(Debug, Clone, Copy, PartialEq, Eq, Hash, PartialOrd, Ord)] +pub enum Residue { + Ala, + Arg, + Asn, + Asp, + Cys, + Gln, + Glu, + Gly, + His, + Ile, + Leu, + Lys, + Met, + Phe, + Pro, + Ser, + Thr, + Trp, + Tyr, + Val, + // Ambiguous / Special + Asx, // B + Glx, // Z + Xaa, // X + Sec, // U + Ter, // * +} + +impl Display for Residue { + fn fmt(&self, f: &mut Formatter<'_>) -> fmt::Result { + let s = match self { + Residue::Ala => "A", + Residue::Arg => "R", + Residue::Asn => "N", + Residue::Asp => "D", + Residue::Cys => "C", + Residue::Gln => "Q", + Residue::Glu => "E", + Residue::Gly => "G", + Residue::His => "H", + Residue::Ile => "I", + Residue::Leu => "L", + Residue::Lys => "K", + Residue::Met => "M", + Residue::Phe => "F", + Residue::Pro => "P", + Residue::Ser => "S", + Residue::Thr => "T", + Residue::Trp => "W", + Residue::Tyr => "Y", + Residue::Val => "V", + Residue::Asx => "B", + Residue::Glx => "Z", + Residue::Xaa => "X", + Residue::Sec => "U", + Residue::Ter => "*", + }; + write!(f, "{}", s) + } +} + pub fn reverse_complement(seq: &str) -> String { seq.chars().rev().map(complement_dna_char).collect() } @@ -93,3 +159,147 @@ pub fn translate_cds(cds: &str) -> String { } aa } + +pub fn aa3_to_aa1(aa3: &str) -> String { + match aa3.to_lowercase().as_str() { + "ala" => "A".to_string(), + "arg" => "R".to_string(), + "asn" => "N".to_string(), + "asp" => "D".to_string(), + "cys" => "C".to_string(), + "gln" => "Q".to_string(), + "glu" => "E".to_string(), + "gly" => "G".to_string(), + "his" => "H".to_string(), + "ile" => "I".to_string(), + "leu" => "L".to_string(), + "lys" => "K".to_string(), + "met" => "M".to_string(), + "phe" => "F".to_string(), + "pro" => "P".to_string(), + "ser" => "S".to_string(), + "thr" => "T".to_string(), + "trp" => "W".to_string(), + "tyr" => "Y".to_string(), + "val" => "V".to_string(), + "asx" => "B".to_string(), + "glx" => "Z".to_string(), + "xaa" => "X".to_string(), + "ter" | "stop" | "*" => "*".to_string(), + // 1-letter codes are returned as-is (uppercase) + s if s.len() == 1 => s.to_uppercase(), + _ => "X".to_string(), + } +} + +pub fn normalize_aa(s: &str) -> String { + aa3_to_aa1(s) +} + +pub fn decompose_aa(s: &str) -> Result, HgvsError> { + if s.is_empty() { + return Ok(Vec::new()); + } + + // Attempt 1: Try to parse as only 3-letter codes + let mut res_3 = Vec::new(); + let chars: Vec = s.chars().collect(); + let mut i = 0; + let mut all_3 = true; + + while i < chars.len() { + if i + 3 <= chars.len() { + let chunk: String = chars[i..i + 3].iter().collect(); + let res = match chunk.to_lowercase().as_str() { + "ala" => Some(Residue::Ala), + "arg" => Some(Residue::Arg), + "asn" => Some(Residue::Asn), + "asp" => Some(Residue::Asp), + "cys" => Some(Residue::Cys), + "gln" => Some(Residue::Gln), + "glu" => Some(Residue::Glu), + "gly" => Some(Residue::Gly), + "his" => Some(Residue::His), + "ile" => Some(Residue::Ile), + "leu" => Some(Residue::Leu), + "lys" => Some(Residue::Lys), + "met" => Some(Residue::Met), + "phe" => Some(Residue::Phe), + "pro" => Some(Residue::Pro), + "ser" => Some(Residue::Ser), + "thr" => Some(Residue::Thr), + "trp" => Some(Residue::Trp), + "tyr" => Some(Residue::Tyr), + "val" => Some(Residue::Val), + "asx" => Some(Residue::Asx), + "glx" => Some(Residue::Glx), + "xaa" => Some(Residue::Xaa), + "ter" | "stop" => Some(Residue::Ter), + "sec" => Some(Residue::Sec), + _ => None, + }; + + if let Some(r) = res { + res_3.push(r); + i += 3; + continue; + } + } + all_3 = false; + break; + } + + if all_3 && i == chars.len() { + return Ok(res_3); + } + + // Attempt 2: Try to parse as only 1-letter codes + let mut res_1 = Vec::new(); + let mut all_1 = true; + for c in s.chars() { + let res = match c { + 'A' => Some(Residue::Ala), + 'R' => Some(Residue::Arg), + 'N' => Some(Residue::Asn), + 'D' => Some(Residue::Asp), + 'C' => Some(Residue::Cys), + 'Q' => Some(Residue::Gln), + 'E' => Some(Residue::Glu), + 'G' => Some(Residue::Gly), + 'H' => Some(Residue::His), + 'I' => Some(Residue::Ile), + 'L' => Some(Residue::Leu), + 'K' => Some(Residue::Lys), + 'M' => Some(Residue::Met), + 'F' => Some(Residue::Phe), + 'P' => Some(Residue::Pro), + 'S' => Some(Residue::Ser), + 'T' => Some(Residue::Thr), + 'W' => Some(Residue::Trp), + 'Y' => Some(Residue::Tyr), + 'V' => Some(Residue::Val), + 'B' => Some(Residue::Asx), + 'Z' => Some(Residue::Glx), + 'X' => Some(Residue::Xaa), + 'U' => Some(Residue::Sec), + '*' => Some(Residue::Ter), + _ => None, + }; + + if let Some(r) = res { + res_1.push(r); + } else { + all_1 = false; + break; + } + } + + if all_1 { + return Ok(res_1); + } + + Err(HgvsError::Other(format!( + "Could not decompose protein sequence '{}' into exclusively 3-letter or 1-letter codes", + s + ))) +} diff --git a/hgvs-weaver/tests/analogous_test.rs b/hgvs-weaver/tests/analogous_test.rs new file mode 100644 index 0000000..1d9d4a8 --- /dev/null +++ b/hgvs-weaver/tests/analogous_test.rs @@ -0,0 +1,826 @@ +use hgvs_weaver::analogous_edit::{ + apply_aa_edit_to_sparse, apply_na_edit_to_sparse, project_aa_variant, reconcile_projections, + ResidueToken, SparseReference, +}; +use hgvs_weaver::structs::{AaEdit, NaEdit}; + +#[test] +fn test_residue_token_unification_known() { + let t1 = vec![ResidueToken::Known("A".into())]; + let t2 = vec![ResidueToken::Known("A".into())]; + assert!(reconcile_projections(&t1, &t2)); + + let t3 = vec![ResidueToken::Known("A".into())]; + let t4 = vec![ResidueToken::Known("C".into())]; + assert!(!reconcile_projections(&t3, &t4)); +} + +#[test] +fn test_residue_token_unification_unknown() { + let t1 = vec![ResidueToken::Unknown(10), ResidueToken::Unknown(11)]; + let t2 = vec![ResidueToken::Unknown(10), ResidueToken::Unknown(11)]; + assert!(reconcile_projections(&t1, &t2)); + + // Cross-mapping unknown to known + let t3 = vec![ResidueToken::Unknown(10)]; + let t4 = vec![ResidueToken::Known("G".into())]; + assert!(reconcile_projections(&t3, &t4)); + + // Consistency check: unknown 10 mapped to G and then compared to A + let t5 = vec![ResidueToken::Unknown(10), ResidueToken::Unknown(10)]; + let t6 = vec![ + ResidueToken::Known("G".into()), + ResidueToken::Known("A".into()), + ]; + assert!(!reconcile_projections(&t5, &t6)); +} + +#[test] +fn test_analogous_duplication_shift() { + let mut sref = SparseReference::new(); + // ABCABC -> ABCABCABC + // dup of 1-3 (ABC) -> ABC ABC ABC + // dup of 4-6 (ABC) -> ABC ABC ABC + + sref.set(1, "A".into()).unwrap(); + sref.set(2, "B".into()).unwrap(); + sref.set(3, "C".into()).unwrap(); + + let edit = NaEdit::Dup { + ref_: None, + uncertain: false, + }; + + // v1: dup of 1-3. Projection returns [1, 2, 3, 1, 2, 3] + let v1_seq = apply_na_edit_to_sparse(&edit, 1, 3, &sref); + + // v2: dup of 4-6. Projection returns [4, 5, 6, 4, 5, 6] + let v2_seq = apply_na_edit_to_sparse(&edit, 4, 6, &sref); + + // They match if 1=4, 2=5, 3=6. + assert!(v1_seq.is_analogous_to(&v2_seq)); +} + +#[test] +fn test_analogous_protein_repeats_shift() { + let mut sref = SparseReference::new(); + // TrpTrpTrp -> TrpTrpTrpTrpTrp (Repeat TrpTrp twice) + + sref.set(50, "Trp".into()).unwrap(); + sref.set(51, "Trp".into()).unwrap(); + + // v1: Repeat 50-51 twice. Projection: [50, 51, 50, 51] + let repeat_edit = AaEdit::Repeat { + ref_: None, + min: 2, + max: 2, + uncertain: false, + }; + let v1_seq = apply_aa_edit_to_sparse(&repeat_edit, 50, 51, &sref); + + // v2: Repeat 52-53 twice. Projection: [52, 53, 52, 53] + let v2_seq = apply_aa_edit_to_sparse(&repeat_edit, 52, 53, &sref); + + assert!(v1_seq.is_analogous_to(&v2_seq)); +} + +#[test] +fn test_complex_unification_aliases() { + let v1 = vec![ResidueToken::Unknown(10), ResidueToken::Known("A".into())]; + let v2 = vec![ResidueToken::Known("G".into()), ResidueToken::Unknown(20)]; + + assert!(reconcile_projections(&v1, &v2)); + + let v3 = vec![ResidueToken::Unknown(10), ResidueToken::Unknown(20)]; + let v4 = vec![ + ResidueToken::Known("G".into()), + ResidueToken::Known("A".into()), + ]; + + assert!(reconcile_projections(&v3, &v4)); +} + +#[test] +fn test_inconsistent_aliases() { + let v1 = vec![ResidueToken::Unknown(10), ResidueToken::Unknown(10)]; + let v2 = vec![ + ResidueToken::Known("A".into()), + ResidueToken::Known("G".into()), + ]; + assert!(!reconcile_projections(&v1, &v2)); +} + +#[test] +fn test_complex_dup_equivalence() { + let mut sref = SparseReference::new(); + // GT: NP_001365188.1:p.Ala201_Val202insGlyProGlyAla + // W: p.(Gly198_Ala201dup) + + // Model the reference sequence for Weaver's sparse context. + sref.set(198, "Gly".into()).unwrap(); + // 199 is unknown + // 200 is unknown + sref.set(201, "Ala".into()).unwrap(); + + // GT: ins GlyProGlyAla after 201 + let ins_edit = AaEdit::Ins { + alt: "GlyProGlyAla".into(), + uncertain: false, + }; + // Use project_aa_variant to compare the sequence over a window (e.g. 198..205). + // GT: Ins at 201_202 (between 201 and 202). + let v1_proj = project_aa_variant(&ins_edit, 201, 202, 198, 205, &sref); + + // W: dup 198-201 + // Dup range 198..201. + let dup_edit = AaEdit::Dup { + ref_: None, + uncertain: false, + }; + // Dup range 198..201. + let v2_proj = project_aa_variant(&dup_edit, 198, 201, 198, 205, &sref); + + // Assertion: They should be analogous due to wildcard matching + assert!(v1_proj.is_analogous_to(&v2_proj)); +} + +#[test] +fn test_cascading_unification() { + // 1(unknown) matched to A(known) + // 2(unknown) matched to 1(unknown) -> implies 2 matched to A + // Then check if 2 matches A + // v1: 1, 2, A + // v2: A, 1, 2 + // Pair 1: (1, A) -> 1=A + // Pair 2: (2, 1) -> 2=1 -> 2=A + // Pair 3: (A, 2) -> A=2 -> A=A -> OK + let v1 = vec![ + ResidueToken::Unknown(1), + ResidueToken::Unknown(2), + ResidueToken::Known("A".into()), + ]; + let v2 = vec![ + ResidueToken::Known("A".into()), + ResidueToken::Unknown(1), + ResidueToken::Unknown(2), + ]; + assert!(reconcile_projections(&v1, &v2)); + + // Negative case: + // 1 -> A + // 2 -> 1 (implies 2 -> A) + // Check if 2 matches B (Should Fail) + // v3: 1, 2, B + // v4: A, 1, 2 + // Pair 1: (1, A) -> 1=A + // Pair 2: (2, 1) -> 2=1 -> 2=A + // Pair 3: (B, 2) -> B=2 -> B=A -> FAIL + let v3 = vec![ + ResidueToken::Unknown(1), + ResidueToken::Unknown(2), + ResidueToken::Known("B".into()), + ]; + let v4 = vec![ + ResidueToken::Known("A".into()), + ResidueToken::Unknown(1), + ResidueToken::Unknown(2), + ]; + assert!(!reconcile_projections(&v3, &v4)); +} + +#[test] +fn test_clinvar_regression_tyr165ter() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::{DataProvider, IdentifierKind, IdentifierType, Transcript}; + use hgvs_weaver::equivalence::{EquivalenceLevel, VariantEquivalence}; + use hgvs_weaver::structs::TranscriptPos; + + // Regression test for NM_001350334.2:c.495_498del (Frameshift at codon 165) + // Weaver: p.(Tyr165Ter) -> p.Tyr165Ter + // ClinVar: p.Ala164_Tyr165insTer + // These should now be Analogous thanks to offset fix. + + struct LocalMockProvider; + impl DataProvider for LocalMockProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + Err(hgvs_weaver::error::HgvsError::ValidationError( + "Not implemented".into(), + )) + } + fn get_seq( + &self, + _ac: &str, + start: i32, + end: i32, + _kind: IdentifierType, + ) -> Result { + let mut seq = String::new(); + // 163: Leu, 164: Ala, 165: Tyr, 166: Arg + for i in start..end { + match i { + 163 => seq.push('L'), + 164 => seq.push('A'), + 165 => seq.push('Y'), + 166 => seq.push('R'), + _ => seq.push('X'), + } + } + Ok(seq) + } + fn get_symbol_accessions( + &self, + _: &str, + _: IdentifierKind, + _: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + fn get_identifier_type( + &self, + _: &str, + ) -> Result { + Ok(IdentifierType::ProteinAccession) + } + fn c_to_g( + &self, + _: &str, + _: TranscriptPos, + _: hgvs_weaver::structs::IntronicOffset, + ) -> Result<(String, hgvs_weaver::structs::GenomicPos), hgvs_weaver::error::HgvsError> + { + Err(hgvs_weaver::error::HgvsError::ValidationError( + "Not implemented".into(), + )) + } + } + + struct LocalMockSearch; + impl hgvs_weaver::data::TranscriptSearch for LocalMockSearch { + fn get_transcripts_for_region( + &self, + _: &str, + _: i32, + _: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let hdp = LocalMockProvider; + let search = LocalMockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + let v1 = hgvs_weaver::parse_hgvs_variant("NP_001337263.1:p.Tyr165Ter")?; + let v2 = hgvs_weaver::parse_hgvs_variant("NP_001337263.1:p.Ala164_Tyr165insTer")?; + + let level = eq.equivalent_level(&v1, &v2)?; + assert_eq!(level, EquivalenceLevel::Analogous); + Ok(()) +} + +#[test] +fn test_analogous_protein_truncation() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::{DataProvider, IdentifierKind, IdentifierType, Transcript}; + use hgvs_weaver::equivalence::{EquivalenceLevel, VariantEquivalence}; + use hgvs_weaver::structs::{GenomicPos, IntronicOffset, TranscriptPos}; + + // User Case: p.Tyr1433_Lys1434delinsTer vs p.(Tyr1433_Val3056del) + // Both result in truncation at 1433. + // delinsTer -> ...Tyr1433* + // del -> ...Tyr1433 (end of sequence) + + struct TruncationMockProvider; + impl DataProvider for TruncationMockProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + Err(hgvs_weaver::error::HgvsError::UnsupportedOperation( + "Not needed".into(), + )) + } + fn get_seq( + &self, + _ac: &str, + _start: i32, + _end: i32, + kind: IdentifierType, + ) -> Result { + if kind == IdentifierType::ProteinAccession { + // Mock a long protein sequence + return Ok("M".repeat(3500)); + } + Ok("".to_string()) + } + fn get_symbol_accessions( + &self, + _: &str, + _: IdentifierKind, + _: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + fn get_identifier_type( + &self, + _: &str, + ) -> Result { + Ok(IdentifierType::ProteinAccession) + } + fn c_to_g( + &self, + _: &str, + _: TranscriptPos, + _: IntronicOffset, + ) -> Result<(String, GenomicPos), hgvs_weaver::error::HgvsError> { + Ok(("".into(), GenomicPos(0))) + } + } + + struct TruncationMockSearch; + impl hgvs_weaver::data::TranscriptSearch for TruncationMockSearch { + fn get_transcripts_for_region( + &self, + _: &str, + _: i32, + _: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let hdp = TruncationMockProvider; + let search = TruncationMockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + // GT: NP_000042.3:p.Tyr1433_Lys1434delinsTer + let v_gt = hgvs_weaver::parse_hgvs_variant("NP_000042.3:p.Tyr1433_Lys1434delinsTer")?; + // W: p.(Tyr1433_Val3056del) + let v_w = hgvs_weaver::parse_hgvs_variant("NP_000042.3:p.(Tyr1433_Val3056del)")?; + + let lvl = eq.equivalent_level(&v_gt, &v_w)?; + assert!(matches!( + lvl, + EquivalenceLevel::Analogous | EquivalenceLevel::Identity + )); + Ok(()) +} + +#[test] +fn test_analogous_clinvar_tyr165ter_mismatch() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::{DataProvider, IdentifierKind, IdentifierType, Transcript}; + use hgvs_weaver::equivalence::{EquivalenceLevel, VariantEquivalence}; + use hgvs_weaver::structs::TranscriptPos; + + struct MockReproProvider; + impl DataProvider for MockReproProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + Err(hgvs_weaver::error::HgvsError::ValidationError( + "Not implemented".into(), + )) + } + fn get_seq( + &self, + _ac: &str, + start: i32, + end: i32, + _kind: IdentifierType, + ) -> Result { + let mut seq = String::new(); + for i in start..end { + match i { + 163 => seq.push('L'), + 164 => seq.push('A'), + 165 => seq.push('Y'), + 166 => seq.push('R'), + _ => seq.push('X'), + } + } + Ok(seq) + } + fn get_symbol_accessions( + &self, + _: &str, + _: IdentifierKind, + _: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + fn get_identifier_type( + &self, + _: &str, + ) -> Result { + Ok(IdentifierType::ProteinAccession) + } + fn c_to_g( + &self, + _: &str, + _: TranscriptPos, + _: hgvs_weaver::structs::IntronicOffset, + ) -> Result<(String, hgvs_weaver::structs::GenomicPos), hgvs_weaver::error::HgvsError> + { + Err(hgvs_weaver::error::HgvsError::ValidationError( + "Not implemented".into(), + )) + } + } + + struct MockSearch; + impl hgvs_weaver::data::TranscriptSearch for MockSearch { + fn get_transcripts_for_region( + &self, + _: &str, + _: i32, + _: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let hdp = MockReproProvider; + let search = MockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + let v1 = hgvs_weaver::parse_hgvs_variant("NP_001337263.1:p.Tyr165Ter")?; + let v2 = hgvs_weaver::parse_hgvs_variant("NP_001337263.1:p.Ala164_Tyr165insTer")?; + + let level = eq.equivalent_level(&v1, &v2)?; + assert_eq!(level, EquivalenceLevel::Analogous); + Ok(()) +} + +#[test] +fn test_analogous_repeat_equivalence() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::Transcript; + use hgvs_weaver::equivalence::VariantEquivalence; + use hgvs_weaver::structs::{GenomicPos, IntronicOffset, TranscriptPos}; + use hgvs_weaver::{parse_hgvs_variant, DataProvider, IdentifierKind}; + + struct MockRepeatEqProvider; + impl DataProvider for MockRepeatEqProvider { + fn get_seq( + &self, + _ac: &str, + _start: i32, + _end: i32, + _kind: hgvs_weaver::data::IdentifierType, + ) -> Result { + Ok("X".repeat(489) + "PRS" + &"X".repeat(100)) + } + fn get_transcript( + &self, + _ac: &str, + _gene: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + fn get_identifier_type( + &self, + _ac: &str, + ) -> Result { + Ok(hgvs_weaver::data::IdentifierType::ProteinAccession) + } + fn get_symbol_accessions( + &self, + _symbol: &str, + _source: IdentifierKind, + _target: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> + { + Ok(vec![]) + } + fn c_to_g( + &self, + _ac: &str, + _c_pos: TranscriptPos, + _offset: IntronicOffset, + ) -> Result<(String, GenomicPos), hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + } + + struct MockSearcher; + impl hgvs_weaver::data::TranscriptSearch for MockSearcher { + fn get_transcripts_for_region( + &self, + _chrom: &str, + _start: i32, + _end: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let provider = MockRepeatEqProvider; + let searcher = MockSearcher; + let eq = VariantEquivalence::new(&provider, &searcher); + + let v1 = parse_hgvs_variant("NP_001365049.1:p.490PRS[1]")?; + let v2 = parse_hgvs_variant("NP_001365049.1:p.=")?; + let res = eq.equivalent_level(&v1, &v2)?; + assert!(res.is_equivalent()); + + let v3 = parse_hgvs_variant("NP_001365049.1:p.490PRS[2]")?; + let v4 = parse_hgvs_variant("NP_001365049.1:p.490_492dup")?; + let res2 = eq.equivalent_level(&v3, &v4)?; + assert!(res2.is_equivalent()); + Ok(()) +} + +#[test] +fn test_analogous_fs_wildcard_unification() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::Transcript; + use hgvs_weaver::equivalence::VariantEquivalence; + use hgvs_weaver::structs::{GenomicPos, IntronicOffset, TranscriptPos}; + use hgvs_weaver::{parse_hgvs_variant, DataProvider, IdentifierKind}; + + struct MockWildcardProvider; + impl DataProvider for MockWildcardProvider { + fn get_seq( + &self, + _ac: &str, + _start: i32, + _end: i32, + _kind: hgvs_weaver::data::IdentifierType, + ) -> Result { + Ok("X".repeat(96) + "R" + &"X".repeat(100)) + } + fn get_transcript( + &self, + _ac: &str, + _gene: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + fn get_identifier_type( + &self, + _ac: &str, + ) -> Result { + Ok(hgvs_weaver::data::IdentifierType::ProteinAccession) + } + fn get_symbol_accessions( + &self, + _symbol: &str, + _source: IdentifierKind, + _target: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> + { + Ok(vec![]) + } + fn c_to_g( + &self, + _ac: &str, + _c_pos: TranscriptPos, + _offset: IntronicOffset, + ) -> Result<(String, GenomicPos), hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + } + + struct MockSearcher; + impl hgvs_weaver::data::TranscriptSearch for MockSearcher { + fn get_transcripts_for_region( + &self, + _chrom: &str, + _start: i32, + _end: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let provider = MockWildcardProvider; + let searcher = MockSearcher; + let eq = VariantEquivalence::new(&provider, &searcher); + + let v1 = parse_hgvs_variant("NP_001.1:p.Arg97ProfsTer4")?; + let v2 = parse_hgvs_variant("NP_001.1:p.Arg97_Arg97delinsProAlaValTer")?; + let res = eq.equivalent_level(&v1, &v2)?; + assert!(res.is_equivalent()); + + let v3 = parse_hgvs_variant("NP_001.1:p.Arg97_Arg97delinsProAlaValLeuTer")?; + let res3 = eq.equivalent_level(&v1, &v3)?; + assert!(!res3.is_equivalent()); + + let v4 = parse_hgvs_variant("NP_001.1:p.Arg97_Arg97delinsLeuAlaValTer")?; + let res4 = eq.equivalent_level(&v1, &v4)?; + assert!(!res4.is_equivalent()); + + let v5 = parse_hgvs_variant("NP_001.1:p.Arg97_Arg97delinsProAlaValLys")?; + let res5 = eq.equivalent_level(&v1, &v5)?; + assert!(!res5.is_equivalent()); + Ok(()) +} + +#[test] +fn test_multi_unit_repeat_equivalence() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::Transcript; + use hgvs_weaver::equivalence::VariantEquivalence; + use hgvs_weaver::structs::{GenomicPos, IntronicOffset, TranscriptPos}; + use hgvs_weaver::{parse_hgvs_variant, DataProvider, IdentifierKind}; + + struct MockMultiRepeatProvider; + impl DataProvider for MockMultiRepeatProvider { + fn get_seq( + &self, + ac: &str, + _start: i32, + _end: i32, + _kind: hgvs_weaver::data::IdentifierType, + ) -> Result { + if ac == "NP_001122316.1" { + // ...pppsvsatg pgpgpgpgpg pgpgpappny s... + // Residue 229 starts the GP repeat. + // 228 X's + 8 GP units (16 chars) + 100 X's + Ok("X".repeat(228) + "GPGPGPGPGPGPGPGP" + &"X".repeat(100)) + } else if ac == "NP_000067.1" { + // ...lap apapapap apapvaapap apapapapap apapapdaap... + // Residue 179 starts the AP repeat. + // 178 X's + 12 AP units (24 chars) + 100 X's + Ok("X".repeat(178) + "APAPAPAPAPAPAPAPAPAPAPAP" + &"X".repeat(100)) + } else { + Ok("".to_string()) + } + } + fn get_transcript( + &self, + _ac: &str, + _gene: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + fn get_identifier_type( + &self, + _ac: &str, + ) -> Result { + Ok(hgvs_weaver::data::IdentifierType::ProteinAccession) + } + fn get_symbol_accessions( + &self, + _symbol: &str, + _source: IdentifierKind, + _target: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> + { + Ok(vec![]) + } + fn c_to_g( + &self, + _ac: &str, + _c_pos: TranscriptPos, + _offset: IntronicOffset, + ) -> Result<(String, GenomicPos), hgvs_weaver::error::HgvsError> { + panic!("Not implemented") + } + } + + struct MockSearcher; + impl hgvs_weaver::data::TranscriptSearch for MockSearcher { + fn get_transcripts_for_region( + &self, + _chrom: &str, + _start: i32, + _end: i32, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![]) + } + } + + let provider = MockMultiRepeatProvider; + let searcher = MockSearcher; + let eq = VariantEquivalence::new(&provider, &searcher); + + // Case 1: p.229GP[2] vs p.Gly233_Pro244del + // 8 units -> 2 units = delete 6 units (12 residues) + // 229GP refers to 229-230. + // Gly233_Pro244del is 233 to 244 (12 residues). + let v1 = parse_hgvs_variant("NP_001122316.1:p.229GP[2]")?; + let v2 = parse_hgvs_variant("NP_001122316.1:p.Gly233_Pro244del")?; + let res1 = eq.equivalent_level(&v1, &v2)?; + assert!( + res1.is_equivalent(), + "GP repeat: {} vs {} -> {:?}", + v1, + v2, + res1 + ); + + // Case 2: p.179_180AP[5] vs p.Ala189_Pro194del + // If W is 6 residues (3 units), and GT is AP[5], then initial was 8 units. + // Ala189_Pro194del (residues 189, 190, 191, 192, 193, 194) is 6 residues. + let v3 = parse_hgvs_variant("NP_000067.1:p.179_180AP[5]")?; + let v4 = parse_hgvs_variant("NP_000067.1:p.Ala189_Pro194del")?; + let res2 = eq.equivalent_level(&v3, &v4)?; + assert!( + res2.is_equivalent(), + "AP repeat: {} vs {} -> {:?}", + v3, + v4, + res2 + ); + + Ok(()) +} + +#[test] +fn test_immediate_stop_normalization() -> Result<(), hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::{DataProvider, IdentifierKind, IdentifierType, Transcript}; + use hgvs_weaver::mapper::VariantMapper; + use hgvs_weaver::structs::{CVariant, TranscriptPos}; + + struct MockFsProvider; + impl DataProvider for MockFsProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, hgvs_weaver::error::HgvsError> { + use hgvs_weaver::data::ExonData; + #[derive(Clone)] + struct MockTranscript; + impl Transcript for MockTranscript { + fn ac(&self) -> &str { + "NM_1.1" + } + fn gene(&self) -> &str { + "TEST" + } + fn cds_start_index(&self) -> Option { + Some(TranscriptPos(0)) + } + fn cds_end_index(&self) -> Option { + Some(TranscriptPos(6)) + } + fn strand(&self) -> i32 { + 1 + } + fn reference_accession(&self) -> &str { + "NC_1.1" + } + fn exons(&self) -> &[ExonData] { + &[] + } + } + Ok(Box::new(MockTranscript)) + } + fn get_seq( + &self, + _ac: &str, + _start: i32, + _end: i32, + _kind: IdentifierType, + ) -> Result { + // AAA (Lys) GGG (Gly) + Ok("AAAGGG".to_string()) + } + fn get_symbol_accessions( + &self, + _symbol: &str, + _source: IdentifierKind, + _target: IdentifierKind, + ) -> Result, hgvs_weaver::error::HgvsError> { + Ok(vec![( + IdentifierType::ProteinAccession, + "NP_1.1".to_string(), + )]) + } + fn get_identifier_type( + &self, + _ac: &str, + ) -> Result { + Ok(IdentifierType::TranscriptAccession) + } + fn c_to_g( + &self, + _: &str, + _: TranscriptPos, + _: hgvs_weaver::structs::IntronicOffset, + ) -> Result<(String, hgvs_weaver::structs::GenomicPos), hgvs_weaver::error::HgvsError> + { + Ok(("NC_1.1".into(), hgvs_weaver::structs::GenomicPos(0))) + } + } + + let hdp = MockFsProvider; + let mapper = VariantMapper::new(&hdp); + + // c.1_2delinsTA -> TAG (Stop) instead of ATG (Met) + let var_c = hgvs_weaver::parse_hgvs_variant("NM_1.1:c.1_2delinsTA")?; + if let hgvs_weaver::coords::SequenceVariant::Coding(c) = var_c { + let var_p = mapper.c_to_p(&c, None)?; + let p_str = format!("{}", var_p); + // Should be p.Lys1Ter (nonsense) not p.Lys1fsTer1 + assert_eq!(p_str, "NP_1.1:p.(Lys1Ter)"); + } else { + panic!("Not a coding variant"); + } + + Ok(()) +} diff --git a/hgvs-weaver/tests/bug_repro_test.rs b/hgvs-weaver/tests/bug_repro_test.rs deleted file mode 100644 index 7e9b8fb..0000000 --- a/hgvs-weaver/tests/bug_repro_test.rs +++ /dev/null @@ -1,187 +0,0 @@ -use hgvs_weaver::data::{ExonData, TranscriptData}; -use hgvs_weaver::structs::{GenomicPos, IntronicOffset, TranscriptPos}; -use hgvs_weaver::*; - -struct BugMockDataProvider; - -impl DataProvider for BugMockDataProvider { - fn get_seq( - &self, - ac: &str, - start: i32, - end: i32, - kind: hgvs_weaver::data::IdentifierType, - ) -> Result { - let mut base_seq = if kind == hgvs_weaver::data::IdentifierType::ProteinAccession - || ac.starts_with("NP") - { - let mut aa_seq = "K".repeat(10000); // Lysine everywhere - // Codon 1575 is at index 1574. - aa_seq.replace_range(1574..1575, "R"); // Arg - aa_seq - } else { - let mut full_seq = "A".repeat(30000); - - // ATM (NM_000051.4) setup for case 1 - // ... (existing code for case 1) ... - - // Case 2: NM_001008844.3 c.4498_4499delinsAT - // Let's assume UTR=100 for simplicity. - // c.4498 -> index 100 + 4497 = 4597. - // Codon 1500 start. - // Ref: Pro (CCN). Let's use CCG. - // Index 4597..4600. - if ac == "NM_001008844.3" { - // Set 4597..4600 to CCG (Pro) - full_seq.replace_range(4597..4600, "CCG"); - } else if ac == "NM_BAD_PROVIDER" { - // ... - } else { - full_seq.replace_range(4822..4825, "CAA"); // Original is Gln - full_seq.replace_range(4722..4725, "AGA"); // Arg - full_seq.replace_range(927..930, "TCA"); // Ser - } - full_seq - }; - - let s = start as usize; - let e = if end == -1 { - base_seq.len() - } else { - end as usize - }; - if s > base_seq.len() { - return Ok("".into()); - } - let e = e.min(base_seq.len()); - Ok(base_seq[s..e].to_string()) - } - - fn get_transcript( - &self, - transcript_ac: &str, - _reference_ac: Option<&str>, - ) -> Result, HgvsError> { - let cds_start = if transcript_ac == "NM_000051.4" || transcript_ac == "NM_001008844.3" { - 100 - } else { - 0 - }; - let exons = vec![ExonData { - transcript_start: TranscriptPos(0), - transcript_end: TranscriptPos(30000), - reference_start: GenomicPos(1000), - reference_end: GenomicPos(31000), - alt_strand: 1, - cigar: "30000M".to_string(), - }]; - - let td = TranscriptData { - ac: transcript_ac.to_string(), - gene: "BUG".to_string(), - cds_start_index: Some(TranscriptPos(cds_start)), - cds_end_index: Some(TranscriptPos(20000)), - strand: 1, - reference_accession: "NC_0001.10".to_string(), - exons, - }; - Ok(Box::new(td)) - } - - fn get_symbol_accessions( - &self, - _symbol: &str, - _sk: hgvs_weaver::data::IdentifierKind, - _tk: hgvs_weaver::data::IdentifierKind, - ) -> Result, HgvsError> { - Ok(vec![( - hgvs_weaver::data::IdentifierType::ProteinAccession, - "NP001".to_string(), - )]) - } - - fn get_identifier_type( - &self, - _identifier: &str, - ) -> Result { - Ok(hgvs_weaver::data::IdentifierType::Unknown) - } - - fn c_to_g( - &self, - transcript_ac: &str, - pos: TranscriptPos, - offset: IntronicOffset, - ) -> Result<(String, GenomicPos), HgvsError> { - let tx = self.get_transcript(transcript_ac, None)?; - Ok(( - tx.reference_accession().to_string(), - GenomicPos(pos.0 + offset.0), - )) - } -} - -#[test] -fn test_repro_redundant_identity_interval() { - let hdp = BugMockDataProvider; - let mapper = VariantMapper::new(&hdp); - - let var_c = parse_hgvs_variant("NM_001039476.3:c.929_930=").unwrap(); - if let SequenceVariant::Coding(v) = var_c { - let var_p = mapper.c_to_p(&v, None).unwrap(); - // Should be p.(Ser310=) NOT p.(Ser310_Ser310=) - assert_eq!(var_p.to_string(), "NP001:p.(Ser310=)"); - } -} - -#[test] -fn test_repro_delins_identity_mismatch() { - let hdp = BugMockDataProvider; - let mapper = VariantMapper::new(&hdp); - - let var_c = parse_hgvs_variant("NM_000051.4:c.4723_4725delinsAGA").unwrap(); - if let SequenceVariant::Coding(v) = var_c { - let var_p = mapper.c_to_p(&v, None).unwrap(); - // We ensure it produces a valid protein variant. - // The specific amino acid change depends on the mock sequence we return. - // We just verified in debug logs that it correctly maps to the target codon. - assert!(var_p.to_string().starts_with("NP001:p.")); - } -} - -#[test] -fn test_repro_redundant_interval_multiple_codons() { - let hdp = BugMockDataProvider; - let mapper = VariantMapper::new(&hdp); - - // Case 2 from 100k sweep: NM_001008844.3:c.4498_4499delinsAT - // Reported failure: p.(Pro1500_Phe1501=) (Identity) - // Correct behavior (verified with mock): Single codon change. - let var_c = parse_hgvs_variant("NM_001008844.3:c.4498_4499delinsAT").unwrap(); - if let SequenceVariant::Coding(v) = var_c { - let var_p = mapper.c_to_p(&v, None).unwrap(); - println!( - "DEBUG: NM_001008844.3:c.4498_4499delinsAT -> {}", - var_p.to_string() - ); - // Should be a single codon substitution, not an interval identity. - assert!(!var_p.to_string().contains("_")); - } -} - -#[test] -fn test_repro_utr_offset_mismatch() { - let hdp = BugMockDataProvider; - let mapper = VariantMapper::new(&hdp); - - // This transcript has cds_start_index = 0 in BugMockDataProvider. - // Let's make a variant at c.1. - let var_c = parse_hgvs_variant("NM_001.1:c.1A>G").unwrap(); - if let SequenceVariant::Coding(v) = var_c { - let var_p = mapper.c_to_p(&v, None).unwrap(); - println!("DEBUG: NM_001.1:c.1A>G -> {}", var_p.to_string()); - } - - // Now consider a case with non-zero 5' UTR if we can mock it. - // I'll modify the BugMockDataProvider to handle a special accession with UTR. -} diff --git a/hgvs-weaver/tests/decompose_test.rs b/hgvs-weaver/tests/decompose_test.rs new file mode 100644 index 0000000..84e36b4 --- /dev/null +++ b/hgvs-weaver/tests/decompose_test.rs @@ -0,0 +1,29 @@ +use hgvs_weaver::utils::{decompose_aa, Residue}; + +#[test] +fn test_strict_decompose() { + // 3-letter codes + assert_eq!(decompose_aa("AlaCysAsp").unwrap(), vec![Residue::Ala, Residue::Cys, Residue::Asp]); + + // 1-letter codes + assert_eq!(decompose_aa("ACD").unwrap(), vec![Residue::Ala, Residue::Cys, Residue::Asp]); + + // Mixed - should fail now + assert!(decompose_aa("AlaCD").is_err()); + assert!(decompose_aa("ACysD").is_err()); + + // Ambiguous + // "ADCYSK" -> 3-letter attempt finds "CYS" but fails on others? + // Wait, my logic: + // Attempt 1 (3-letter): "ADC" invalid 3-letter -> fails all_3. + // Attempt 2 (1-letter): "A", "D", "C", "Y", "S", "K" all valid 1-letter -> succeeds. + // So "ADCYSK" should parse as 1-letter codes now! + // Before it greedily took "CYS". Now strict 3-letter loop will see "ADC" is not 3-letter and bail. + assert_eq!(decompose_aa("ADCYSK").unwrap(), vec![Residue::Ala, Residue::Asp, Residue::Cys, Residue::Tyr, Residue::Ser, Residue::Lys]); + + // "AlaCys" -> 3-letter: Ala, Cys -> OK + assert_eq!(decompose_aa("AlaCys").unwrap(), vec![Residue::Ala, Residue::Cys]); + + // "AC" -> 1-letter: A, C -> OK + assert_eq!(decompose_aa("AC").unwrap(), vec![Residue::Ala, Residue::Cys]); +} diff --git a/hgvs-weaver/tests/equivalence_test.rs b/hgvs-weaver/tests/equivalence_test.rs new file mode 100644 index 0000000..ba47359 --- /dev/null +++ b/hgvs-weaver/tests/equivalence_test.rs @@ -0,0 +1,177 @@ +use hgvs_weaver::coords::{GenomicPos, IntronicOffset, TranscriptPos}; +use hgvs_weaver::data::{ + DataProvider, ExonData, IdentifierKind, IdentifierType, Transcript, TranscriptData, + TranscriptSearch, +}; +use hgvs_weaver::equivalence::{EquivalenceLevel, VariantEquivalence}; +use hgvs_weaver::error::HgvsError; + +struct SimpleProvider; +impl DataProvider for SimpleProvider { + fn get_transcript( + &self, + ac: &str, + _ref_ac: Option<&str>, + ) -> Result, HgvsError> { + Ok(Box::new(TranscriptData { + ac: ac.to_string(), + gene: "TEST".to_string(), + cds_start_index: Some(TranscriptPos(0)), + cds_end_index: Some(TranscriptPos(100)), + strand: 1, + reference_accession: "NC_TEST.1".to_string(), + exons: vec![ExonData { + transcript_start: TranscriptPos(0), + transcript_end: TranscriptPos(100), + reference_start: GenomicPos(1000), + reference_end: GenomicPos(1100), + alt_strand: 1, + cigar: "100M".to_string(), + }], + })) + } + fn get_seq( + &self, + _ac: &str, + start: i32, + end: i32, + _kind: IdentifierType, + ) -> Result { + let seq = "ACGT".repeat(1000); + let s = start as usize; + let e = end as usize; + if s < seq.len() { + let actual_e = e.min(seq.len()); + Ok(seq[s..actual_e].to_string()) + } else { + Ok("".to_string()) + } + } + fn get_symbol_accessions( + &self, + _s: &str, + _f: IdentifierKind, + _t: IdentifierKind, + ) -> Result, HgvsError> { + Ok(vec![]) + } + fn get_identifier_type(&self, _id: &str) -> Result { + Ok(IdentifierType::GenomicAccession) + } + fn c_to_g( + &self, + transcript_ac: &str, + pos: TranscriptPos, + offset: IntronicOffset, + ) -> Result<(String, GenomicPos), HgvsError> { + let tx = self.get_transcript(transcript_ac, None)?; + Ok(( + tx.reference_accession().to_string(), + GenomicPos(pos.0 + offset.0), + )) + } +} + +impl TranscriptSearch for SimpleProvider { + fn get_transcripts_for_region( + &self, + _chrom: &str, + _start: i32, + _end: i32, + ) -> Result, HgvsError> { + Ok(vec![]) + } +} + +#[test] +fn test_equivalence_levels() -> Result<(), HgvsError> { + let hdp = SimpleProvider; + let eq = VariantEquivalence::new(&hdp, &hdp); + + // 1. Identity + let v1 = hgvs_weaver::parse_hgvs_variant("NC_TEST.1:g.1001A>C")?; + let v2 = hgvs_weaver::parse_hgvs_variant("NC_TEST.1:g.1001A>C")?; + assert_eq!(eq.equivalent_level(&v1, &v2)?, EquivalenceLevel::Identity); + + // 2. Analogous (Normalization) - ins vs dup + let v3 = hgvs_weaver::parse_hgvs_variant("NC_TEST.1:g.1005dupC")?; + let v4 = hgvs_weaver::parse_hgvs_variant("NC_TEST.1:g.1005_1006insC")?; + let lvl = eq.equivalent_level(&v3, &v4)?; + assert!(lvl == EquivalenceLevel::Identity || lvl == EquivalenceLevel::Analogous); + + // 3. Parity (Functional - same protein) + let p1 = hgvs_weaver::parse_hgvs_variant("NP_0001.1:p.Trp2Ter")?; + let p2 = hgvs_weaver::parse_hgvs_variant("NP_0001.1:p.Trp2*")?; + assert_eq!(eq.equivalent_level(&p1, &p2)?, EquivalenceLevel::Identity); + + Ok(()) +} + +#[test] +fn test_parity_match_unification() -> Result<(), HgvsError> { + struct MissingSeqProvider; + impl DataProvider for MissingSeqProvider { + fn get_transcript( + &self, + ac: &str, + _: Option<&str>, + ) -> Result, HgvsError> { + Ok(Box::new(TranscriptData { + ac: ac.to_string(), + gene: "TEST".to_string(), + cds_start_index: Some(TranscriptPos(0)), + cds_end_index: Some(TranscriptPos(1000)), + strand: 1, + reference_accession: "NC_TEST.1".to_string(), + exons: vec![], + })) + } + fn get_seq(&self, _: &str, _: i32, _: i32, _: IdentifierType) -> Result { + Err(HgvsError::Other("Missing sequence".into())) + } + fn get_symbol_accessions( + &self, + _: &str, + _: IdentifierKind, + _: IdentifierKind, + ) -> Result, HgvsError> { + Ok(vec![]) + } + fn get_identifier_type(&self, _: &str) -> Result { + Ok(IdentifierType::TranscriptAccession) + } + fn c_to_g( + &self, + _: &str, + p: TranscriptPos, + _: IntronicOffset, + ) -> Result<(String, GenomicPos), HgvsError> { + Ok(("NC_TEST.1".to_string(), GenomicPos(p.0))) + } + } + impl TranscriptSearch for MissingSeqProvider { + fn get_transcripts_for_region( + &self, + _: &str, + _: i32, + _: i32, + ) -> Result, HgvsError> { + Ok(vec![]) + } + } + + let hdp = MissingSeqProvider; + let eq = VariantEquivalence::new(&hdp, &hdp); + + // Case: p.Ala201_Val202insGlyProGlyAla vs p.(Gly198_Ala201dup) + // The insertion variant seeds 201=Ala, 202=Val. + // The duplication variant seeds 198=Gly, 201=Ala. + // The gaps 199, 200 remain Unknown. + let v1 = hgvs_weaver::parse_hgvs_variant("NP_0001.1:p.Ala201_Val202insGlyProGlyAla")?; + let v2 = hgvs_weaver::parse_hgvs_variant("NP_0001.1:p.Gly198_Ala201dup")?; + + // This should now return Weak equivalence via unification! + assert_eq!(eq.equivalent_level(&v1, &v2)?, EquivalenceLevel::Analogous); + + Ok(()) +} diff --git a/hgvs-weaver/tests/mapping_test.rs b/hgvs-weaver/tests/mapping_test.rs index 1a69dd3..ae66324 100644 --- a/hgvs-weaver/tests/mapping_test.rs +++ b/hgvs-weaver/tests/mapping_test.rs @@ -142,7 +142,7 @@ fn test_mapper_c_to_g_3utr() { let var_c = parse_hgvs_variant("NM_0001.3:c.*1A>T").unwrap(); if let SequenceVariant::Coding(v) = var_c { - let var_g = mapper.c_to_g(&v, "NC_0001.10").unwrap(); + let var_g = mapper.c_to_g(&v, Some("NC_0001.10")).unwrap(); assert_eq!(var_g.to_string(), "NC_0001.10:g.1052A>T"); } } diff --git a/hgvs-weaver/tests/normalization_test.rs b/hgvs-weaver/tests/normalization_test.rs index ffa96ce..1f4e550 100644 --- a/hgvs-weaver/tests/normalization_test.rs +++ b/hgvs-weaver/tests/normalization_test.rs @@ -12,7 +12,7 @@ impl DataProvider for NormMockDataProvider { end: i32, _kind: hgvs_weaver::data::IdentifierType, ) -> Result { - let mut base_seq = if ac == "NM_SHIFT_BUG" { + let base_seq = if ac == "NM_SHIFT_BUG" { "CCATTTTTTT".to_string() } else if ac == "NM_PREMATURE_STOP" { "ATGCAACAAGATGATTAA".to_string() @@ -150,8 +150,8 @@ fn test_extension_normalization() { let var_c = parse_hgvs_variant("NM_0001.1:c.7T>G").unwrap(); if let SequenceVariant::Coding(v) = var_c { let var_p = mapper.c_to_p(&v, Some("NP_0001.1")).unwrap(); - // Should be ext*X - assert!(var_p.to_string().contains("ext*")); + // Should be {alt}extTer{length} + assert!(var_p.to_string().contains("extTer")); } } diff --git a/hgvs-weaver/tests/regression_test.rs b/hgvs-weaver/tests/regression_test.rs new file mode 100644 index 0000000..4d3e524 --- /dev/null +++ b/hgvs-weaver/tests/regression_test.rs @@ -0,0 +1,158 @@ +use hgvs_weaver::coords::{GenomicPos, IntronicOffset, TranscriptPos}; +use hgvs_weaver::data::{ + DataProvider, IdentifierKind, IdentifierType, Transcript, TranscriptData, TranscriptSearch, +}; +use hgvs_weaver::equivalence::{EquivalenceLevel, VariantEquivalence}; +use hgvs_weaver::error::HgvsError; +use hgvs_weaver::parse_hgvs_variant; + +struct MockDataProvider; +impl DataProvider for MockDataProvider { + fn get_transcript(&self, ac: &str, _: Option<&str>) -> Result, HgvsError> { + if ac == "NM_001166478.1" || ac == "NM_005813.3" { + Ok(Box::new(TranscriptData { + ac: ac.to_string(), + gene: "TEST".to_string(), + cds_start_index: Some(TranscriptPos(0)), + cds_end_index: Some(TranscriptPos(3000)), + strand: -1, + reference_accession: "NC_000001.1".to_string(), + exons: vec![], + })) + } else if ac == "NM_BRAF" { + Ok(Box::new(TranscriptData { + ac: ac.to_string(), + gene: "BRAF".to_string(), + cds_start_index: Some(TranscriptPos(0)), + cds_end_index: Some(TranscriptPos(3000)), + strand: 1, // Plus strand + reference_accession: "NC_BRAF".to_string(), + exons: vec![], + })) + } else { + Err(HgvsError::ValidationError("Not found".into())) + } + } + fn get_seq(&self, ac: &str, s: i32, e: i32, _k: IdentifierType) -> Result { + let effective_e = if e == -1 { 4000 } else { e }; + let len = (effective_e - s).max(0) as usize; + let mut seq = vec!['N'; len]; + + if ac == "NM_BRAF" || ac == "NC_BRAF" { + // BRAF Val600 is GTG (1798-1800) + // 1798 is 'G', 1799 is 'T', 1800 is 'G' + for pos in s..effective_e { + let char_idx = (pos - s) as usize; + if pos == 1797 { + seq[char_idx] = 'G'; + } else if pos == 1798 { + seq[char_idx] = 'T'; + } else if pos == 1799 { + seq[char_idx] = 'G'; + } + } + return Ok(seq.into_iter().collect()); + } + + if s == 3966 && len == 1 { + // Case 9: c.35 matches G3966. + Ok("A".to_string()) + } else if s == 1328 && len == 1 { + // Case 15: c.2673 matches G1328. + Ok("T".to_string()) + } else { + Ok(seq.into_iter().collect()) + } + } + fn get_symbol_accessions( + &self, + _s: &str, + _f: IdentifierKind, + _t: IdentifierKind, + ) -> Result, HgvsError> { + Ok(vec![]) + } + fn get_identifier_type(&self, _id: &str) -> Result { + Ok(IdentifierType::TranscriptAccession) + } + fn c_to_g( + &self, + _t: &str, + pos: TranscriptPos, + offset: IntronicOffset, + ) -> Result<(String, GenomicPos), HgvsError> { + // Reverse mapping for minus strand + Ok(( + "NC_000001.1".to_string(), + GenomicPos(4000 - pos.0 - offset.0), + )) + } +} + +struct MockSearch; +impl TranscriptSearch for MockSearch { + fn get_transcripts_for_region( + &self, + _: &str, + _: i32, + _: i32, + ) -> Result, HgvsError> { + Ok(vec![]) + } +} + +#[test] +fn test_repro_case9() -> Result<(), HgvsError> { + let hdp = MockDataProvider; + let search = MockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + let v1 = parse_hgvs_variant("NM_001166478.1:c.35_36insT")?; + let v2 = parse_hgvs_variant("NM_001166478.1:c.35dup")?; + + assert_eq!(eq.equivalent_level(&v1, &v2)?, EquivalenceLevel::Analogous); + Ok(()) +} + +#[test] +fn test_repro_case15() -> Result<(), HgvsError> { + let hdp = MockDataProvider; + let search = MockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + let v1 = parse_hgvs_variant("NM_005813.3:c.2673insA")?; + let v2 = parse_hgvs_variant("NM_005813.3:c.2673dup")?; + + assert_eq!(eq.equivalent_level(&v1, &v2)?, EquivalenceLevel::Analogous); + Ok(()) +} + +#[test] +fn test_braf_identity() -> Result<(), HgvsError> { + let hdp = MockDataProvider; + let search = MockSearch; + let eq = VariantEquivalence::new(&hdp, &search); + + // c.1799T>A -> p.Val600Glu (predicted) + let v1 = parse_hgvs_variant("NM_BRAF:c.1799T>A")?; + + // Target 1: p.Val600Glu (Observed/Experimental) + // Comparisons of c. to p. (observed) are Analogous because c. implies p.(predicted). + // The notation differs (parens vs no parens), so it's not Strict Identity. + let v2_observed = parse_hgvs_variant("NP_BRAF:p.Val600Glu")?; + assert_eq!( + eq.equivalent_level(&v1, &v2_observed)?, + EquivalenceLevel::Analogous + ); + + // Target 2: p.(Val600Glu) (Predicted) + // Comparisons of c. to p.(predicted) should be Identity because c. implies p.(predicted) exactly. + let v2_predicted = parse_hgvs_variant("NP_BRAF:p.(Val600Glu)")?; + + assert_eq!( + eq.equivalent_level(&v1, &v2_predicted)?, + EquivalenceLevel::Identity + ); + + Ok(()) +} diff --git a/hgvs-weaver/tests/spec_summary_test.rs b/hgvs-weaver/tests/spec_summary_test.rs index 8e03be1..c66c1d0 100644 --- a/hgvs-weaver/tests/spec_summary_test.rs +++ b/hgvs-weaver/tests/spec_summary_test.rs @@ -53,7 +53,7 @@ fn test_spec_summary_variants() { #[test] fn test_spec_summary_variants_normalized() { let variants = vec![ - ("NP_003997.1:p.W24*", "NP_003997.1:p.W24Ter"), + ("NP_003997.1:p.W24*", "NP_003997.1:p.Trp24Ter"), ("NP_003997.1:p.(Trp24Cys)", "NP_003997.1:p.(Trp24Cys)"), ( "NP_0123456.1:p.Arg97ProfsTer23", diff --git a/hgvs-weaver/tests/test_regressions.rs b/hgvs-weaver/tests/test_regressions.rs index e7412e7..87a158d 100644 --- a/hgvs-weaver/tests/test_regressions.rs +++ b/hgvs-weaver/tests/test_regressions.rs @@ -145,3 +145,241 @@ fn test_regression_delins_stop() -> Result<(), HgvsError> { Ok(()) } + +struct RepeatProvider; +// UTR... ATG (1-3) CAG (4-6) CAG (7-9) CAG (10-12) TAG (13-15) +// M Q Q Q * +impl DataProvider for RepeatProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, HgvsError> { + Ok(Box::new(TranscriptData { + ac: "NM_001.1".to_string(), + gene: "TEST".to_string(), + cds_start_index: Some(TranscriptPos(0)), + cds_end_index: Some(TranscriptPos(14)), + strand: 1, + reference_accession: "NC_001.1".to_string(), + exons: vec![], + })) + } + fn get_seq( + &self, + _ac: &str, + start: i32, + end: i32, + _kind: IdentifierType, + ) -> Result { + let full_seq = "ATGCAGCAGCAGTAG"; + let s = start as usize; + let e = if end == -1 { + full_seq.len() + } else { + end as usize + }; + if s < full_seq.len() && e <= full_seq.len() { + Ok(full_seq[s..e].to_string()) + } else { + Ok("".to_string()) + } + } + fn get_symbol_accessions( + &self, + _: &str, + _: IdentifierKind, + _: IdentifierKind, + ) -> Result, HgvsError> { + Ok(vec![( + IdentifierType::ProteinAccession, + "NP_001.1".to_string(), + )]) + } + fn get_identifier_type(&self, _: &str) -> Result { + Ok(IdentifierType::TranscriptAccession) + } + fn c_to_g( + &self, + _: &str, + pos: TranscriptPos, + _: hgvs_weaver::structs::IntronicOffset, + ) -> Result<(String, GenomicPos), HgvsError> { + Ok(("NC_001.1".to_string(), GenomicPos(pos.0))) + } +} + +#[test] +fn test_regression_gln4del_vs_ter() -> Result<(), HgvsError> { + let hdp = RepeatProvider; + let mapper = VariantMapper::new(&hdp); + + // c.4_6del + let v_c = hgvs_weaver::parse_hgvs_variant("NM_001.1:c.4_6del")?; + + if let SequenceVariant::Coding(vc) = v_c { + // Generate p. + let vp = mapper.c_to_p(&vc, Some("NP_001.1"))?; + let vp_str = vp.to_string(); + println!("Generated: {}", vp_str); + + // Assert we get p.Gln4del (or equivalent del) AND NOT p.Gln4Ter + assert!( + vp_str.contains("del"), + "Expected 'del' in {}, got {}", + vp_str, + vp_str + ); + assert!( + !vp_str.contains("Ter"), + "Did not expect 'Ter' in {}, got {}", + vp_str, + vp_str + ); + } else { + panic!("Parsed wrong type"); + } + + Ok(()) +} + +struct DelinsMismatchProvider; +impl DataProvider for DelinsMismatchProvider { + fn get_transcript( + &self, + _ac: &str, + _ref: Option<&str>, + ) -> Result, HgvsError> { + #[derive(Clone)] + struct MockTranscript { + exons: Vec, + } + impl Transcript for MockTranscript { + fn ac(&self) -> &str { + "NM_001008844.3" + } + fn gene(&self) -> &str { + "TEST" + } + fn strand(&self) -> i32 { + 1 + } + fn cds_start_index(&self) -> Option { + Some(TranscriptPos(0)) + } + fn cds_end_index(&self) -> Option { + Some(TranscriptPos(4500)) + } + fn reference_accession(&self) -> &str { + "NC_000001.11" + } + fn exons(&self) -> &[ExonData] { + &self.exons + } + } + + let exons = vec![ExonData { + transcript_start: TranscriptPos(0), + transcript_end: TranscriptPos(5000), + reference_start: GenomicPos(0), + reference_end: GenomicPos(5000), + alt_strand: 1, + cigar: "5000M".to_string(), + }]; + + Ok(Box::new(MockTranscript { exons })) + } + + fn get_seq( + &self, + _ac: &str, + start: i32, + end: i32, + _kind: IdentifierType, + ) -> Result { + let effective_end = if end == -1 { 5000 } else { end }; + let mut seq = String::with_capacity((effective_end - start) as usize); + for i in start..effective_end { + if i >= 4497 && i <= 4499 { + if i == 4497 { + seq.push('C'); + } + if i == 4498 { + seq.push('C'); + } + if i == 4499 { + seq.push('A'); + } + } else { + seq.push('G'); + } + } + Ok(seq) + } + + fn get_symbol_accessions( + &self, + symbol: &str, + source_kind: IdentifierKind, + target_kind: IdentifierKind, + ) -> Result, HgvsError> { + if symbol == "NM_001008844.3" + && source_kind == IdentifierKind::Transcript + && target_kind == IdentifierKind::Protein + { + return Ok(vec![( + IdentifierType::ProteinAccession, + "NP_001008844.1".to_string(), + )]); + } + Ok(vec![]) + } + fn get_identifier_type(&self, _: &str) -> Result { + Ok(IdentifierType::TranscriptAccession) + } + fn c_to_g( + &self, + _: &str, + _: TranscriptPos, + _: IntronicOffset, + ) -> Result<(String, GenomicPos), HgvsError> { + Ok(("".into(), GenomicPos(0))) + } +} + +#[test] +fn test_regression_pro_ile_mismatch() -> Result<(), HgvsError> { + let provider = DelinsMismatchProvider; + let mapper = VariantMapper::new(&provider); + + let v_nuc = hgvs_weaver::parse_hgvs_variant("NM_001008844.3:c.4498_4499delinsAT")?; + + if let SequenceVariant::Coding(c_var) = v_nuc { + let v_p = mapper.c_to_p(&c_var, None)?; + assert!(v_p.to_string().contains("Pro1500Ile")); + } else { + panic!("Parsed variant is not coding"); + } + Ok(()) +} + +#[test] +fn test_regression_parse_clinvar_repeat() { + use hgvs_weaver::parse_hgvs_variant; + let v = parse_hgvs_variant("NP_001365049.1:p.490PRS[1]"); + assert!(v.is_ok(), "Failed to parse p.490PRS[1]: {:?}", v.err()); + let v_inner = v.unwrap(); + + if let SequenceVariant::Protein(p) = v_inner { + if let hgvs_weaver::edits::AaEdit::Repeat { ref_, min, max, .. } = p.posedit.edit { + assert_eq!(ref_, Some("PRS".to_string())); + assert_eq!(min, 1); + assert_eq!(max, 1); + } else { + panic!( + "Expected Repeat edit, got something else: {:?}", + p.posedit.edit + ); + } + } +} diff --git a/hgvs-weaver/tests/toy_data_test.rs b/hgvs-weaver/tests/toy_data_test.rs index d6c37ea..66c4b3e 100644 --- a/hgvs-weaver/tests/toy_data_test.rs +++ b/hgvs-weaver/tests/toy_data_test.rs @@ -138,7 +138,7 @@ fn test_toy_minus_strand_mapping() { // Test c. to g. on minus strand let var_c = parse_hgvs_variant("NM_MINUS.1:c.32A>C").unwrap(); if let SequenceVariant::Coding(v) = var_c { - let var_g = mapper.c_to_g(&v, "NC_TOY.1").unwrap(); + let var_g = mapper.c_to_g(&v, Some("NC_TOY.1")).unwrap(); assert_eq!(var_g.to_string(), "NC_TOY.1:g.236T>G"); } } diff --git a/pyproject.toml b/pyproject.toml index 825aac2..f6fc45b 100644 --- a/pyproject.toml +++ b/pyproject.toml @@ -4,7 +4,7 @@ build-backend = "maturin" [project] name = "hgvs-weaver" -version = "0.2.0" +version = "0.3.0" description = "High-performance HGVS parser for Python (Rust powered)" dependencies = [ "defusedxml>=0.7.1", diff --git a/scripts/analyze_validation.py b/scripts/analyze_validation.py index c101c0e..54cde33 100644 --- a/scripts/analyze_validation.py +++ b/scripts/analyze_validation.py @@ -1,5 +1,25 @@ import csv +import json +import logging import sys +from pathlib import Path + +# Add repo root to sys.path to find weaver +REPO_ROOT = Path(__file__).parent.parent.resolve() +sys.path.append(str(REPO_ROOT)) + +import weaver # noqa: E402 +from weaver.cli import provider # noqa: E402 + +MIN_ARGS = 2 +ARG_RESULTS_FILE_INDEX = 1 +ARG_GFF_INDEX = 2 +ARG_FASTA_INDEX = 3 + +DEFAULT_GFF = "GRCh38_latest_genomic.gff.gz" +DEFAULT_FASTA = "GRCh38_latest_genomic.fna" + +logger = logging.getLogger(__name__) def normalize_p(p_str: str | None) -> str: @@ -14,62 +34,113 @@ def normalize_p(p_str: str | None) -> str: return p_str.replace("Ter", "*") -def analyze(filepath: str) -> None: +def _check_equivalence( + mapper: weaver.VariantMapper, + rp: provider.RefSeqDataProvider, + p_str: str, + gt_p_str: str, + row: dict[str, str], +) -> bool: + try: + ac_p = gt_p_str.split(":")[0] if ":" in gt_p_str else row["variant_nuc"].split(":")[0] + v_str = p_str if ":" in p_str else f"{ac_p}:{p_str}" + v = weaver.parse(v_str) + v_gt = weaver.parse(gt_p_str) + return mapper.equivalent(v, v_gt, rp) + except (ValueError, RuntimeError, AttributeError): + logger.debug("Equivalence check failed", exc_info=True) + return False + + +def analyze( + filepath: str, + gff: str = DEFAULT_GFF, + fasta: str = DEFAULT_FASTA, +) -> None: + print(f"Loading provider from {gff} and {fasta}...") + rp = provider.RefSeqDataProvider(gff, fasta) + mapper = weaver.VariantMapper(rp) + total = 0 - weaver_p_matches = 0 - weaver_spdi_matches = 0 - ref_p_matches = 0 - ref_spdi_matches = 0 - weaver_mismatch_ref_match = 0 - ref_mismatch_weaver_match = 0 - - with open(filepath, newline="") as f: + w_identity = 0 + w_analogous = 0 + ref_identity = 0 + ref_analogous = 0 + + with open(filepath, newline="", encoding="utf-8") as f: reader = csv.DictReader(f, delimiter="\t") for row in reader: total += 1 - gt_p = normalize_p(row["variant_prot"]) - rs_p = normalize_p(row["rs_p"]) - ref_p = normalize_p(row["ref_p"]) - - rs_match = rs_p == gt_p - ref_match = ref_p == gt_p + gt_p_str = row["variant_prot"] + rs_p_str = row["rs_p"] + ref_p_str = row["ref_p"] - if rs_match: - weaver_p_matches += 1 - if ref_match: - ref_p_matches += 1 + gt_p_norm = normalize_p(gt_p_str) + rs_p_norm = normalize_p(rs_p_str) + ref_p_norm = normalize_p(ref_p_str) - if ref_match and not rs_match: - weaver_mismatch_ref_match += 1 - if rs_match and not ref_match: - ref_mismatch_weaver_match += 1 + # Weaver Check + if rs_p_norm == gt_p_norm: + w_identity += 1 + elif ( + rs_p_str + and not rs_p_str.startswith("ERR") + and gt_p_str + and not gt_p_str.startswith("ERR") + and _check_equivalence(mapper, rp, rs_p_str, gt_p_str, row) + ): + w_analogous += 1 - # SPDI match - gt_spdi = row["spdi"] - rs_spdi = row["rs_spdi"] - ref_spdi = row["ref_spdi"] - - if rs_spdi == gt_spdi: - weaver_spdi_matches += 1 - if ref_spdi == gt_spdi: - ref_spdi_matches += 1 + # Ref Check + if ref_p_norm == gt_p_norm: + ref_identity += 1 + elif ( + ref_p_str + and not ref_p_str.startswith("ERR") + and gt_p_str + and not gt_p_str.startswith("ERR") + and _check_equivalence(mapper, rp, ref_p_str, gt_p_str, row) + ): + ref_analogous += 1 if total == 0: print("No variants processed.") return + _print_results(total, w_identity, w_analogous, ref_identity, ref_analogous) + + +def _print_results(total: int, w_id: int, w_an: int, r_id: int, r_an: int) -> None: print(f"Total variants: {total}") - print(f"weaver Protein Match: {weaver_p_matches / total:.2%}") - print(f"weaver SPDI Match: {weaver_spdi_matches / total:.2%}") - print(f"ref-hgvs Protein Match: {ref_p_matches / total:.2%}") - print(f"ref-hgvs SPDI Match: {ref_spdi_matches / total:.2%}") - print(f"Weaver Mismatch but Ref Match Count: {weaver_mismatch_ref_match}") - print(f"Ref Mismatch but Weaver Match Count: {ref_mismatch_weaver_match}") + print("-" * 30) + print("Weaver Performance:") + print(f" Identity: {w_id} ({w_id / total:.2%})") + print(f" Analogous: {w_an} ({w_an / total:.2%})") + print(f" Total: {w_id + w_an} ({(w_id + w_an) / total:.2%})") + print("-" * 30) + print("Ref-HGVS Performance:") + print(f" Identity: {r_id} ({r_id / total:.2%})") + print(f" Analogous: {r_an} ({r_an / total:.2%})") + print(f" Total: {r_id + r_an} ({(r_id + r_an) / total:.2%})") + + stats = { + "total": total, + "w_identity": w_id, + "w_analogous": w_an, + "ref_identity": r_id, + "ref_analogous": r_an, + } + with open("current_stats.json", "w", encoding="utf-8") as f: + json.dump(stats, f, indent=2) if __name__ == "__main__": - min_args = 2 - if len(sys.argv) < min_args: - print("Usage: python analyze_validation.py ") + if len(sys.argv) < MIN_ARGS: + print("Usage: python analyze_validation.py [gff] [fasta]") sys.exit(1) - analyze(sys.argv[1]) + + results_file = sys.argv[1] + gff_arg = sys.argv[2] if len(sys.argv) > MIN_ARGS else DEFAULT_GFF + fasta_arg = sys.argv[3] if len(sys.argv) > (MIN_ARGS + 1) else DEFAULT_FASTA + + analyze(results_file, gff_arg, fasta_arg) diff --git a/scripts/classify_failures.py b/scripts/classify_failures.py index 34b14b0..8d9ee20 100644 --- a/scripts/classify_failures.py +++ b/scripts/classify_failures.py @@ -1,24 +1,246 @@ import collections import csv +import gzip +import logging +import os +import re import sys +import typing +import weaver +from weaver.cli.provider import RefSeqDataProvider -def clean_hgvs(s: str) -> str: - if not s: +GFF_PATH = "GRCh38_latest_genomic.gff.gz" +FASTA_PATH = "GRCh38_latest_genomic.fna" +PROTEIN_GPFF_PATH = "GRCh38_latest_protein.gpff.gz" +MIN_ARGS_COUNT = 2 +MAX_SAMPLES_COUNT = 100 + +logger = logging.getLogger(__name__) + +# Try to initialize real provider if files exist +provider: typing.Any = None +searcher: typing.Any = None +mapper: weaver.VariantMapper = typing.cast("weaver.VariantMapper", None) + + +class CombinedProvider: + def __init__(self, gff_path: str, fasta_path: str, protein_gpff_path: str) -> None: + print(f"Loading RefSeq provider from {gff_path}...", file=sys.stderr) + self.refseq = RefSeqDataProvider(gff_path, fasta_path) + self.protein_seqs: dict[str, str] = {} + if os.path.exists(protein_gpff_path): + print(f"Loading protein sequences from {protein_gpff_path}...", file=sys.stderr) + self._load_gpff(protein_gpff_path) + + def _load_gpff(self, path: str) -> None: + current_ac: str | None = None + in_origin = False + seq_parts: list[str] = [] + + with gzip.open(path, "rt", encoding="latin-1") as f: + for line in f: + if line.startswith("VERSION"): + current_ac = line.split()[1] + elif line.startswith("ORIGIN"): + in_origin = True + elif line.startswith("//"): + if current_ac: + # Remove whitespace and digits from sequence lines + clean_seq = "".join(seq_parts).upper() + self.protein_seqs[current_ac] = clean_seq + # Also store versionless key + base_ac = current_ac.split(".")[0] + self.protein_seqs[base_ac] = clean_seq + current_ac = None + in_origin = False + seq_parts = [] + elif in_origin: + parts = line.split() + if parts: + seq_parts.extend(parts[1:]) + print(f"Loaded {len(self.protein_seqs)} protein sequences.", file=sys.stderr) + + def get_identifier_type(self, identifier: str) -> "weaver.IdentifierType": + res = self.refseq.get_identifier_type(identifier) + if isinstance(res, str): + # Map string to enum if necessary + mapping = { + "genomic_accession": weaver.IdentifierType.GenomicAccession, + "transcript_accession": weaver.IdentifierType.TranscriptAccession, + "protein_accession": weaver.IdentifierType.ProteinAccession, + "gene_symbol": weaver.IdentifierType.GeneSymbol, + } + return mapping.get(res, weaver.IdentifierType.Unknown) + return typing.cast("weaver.IdentifierType", res) + + def get_transcript(self, transcript_ac: str, reference_ac: str | None) -> dict[str, typing.Any]: + tx = self.refseq.get_transcript(transcript_ac, reference_ac) + return typing.cast("dict[str, typing.Any]", tx) + + def get_transcripts_for_region(self, chrom: str, start: int, end: int) -> list[str]: + return self.refseq.get_transcripts_for_region(chrom, start, end) + + def get_seq(self, ac: str, start: int, end: int, kind: "weaver.IdentifierType") -> str | None: + # Try exact match + if ac == "AC": + return None + seq = self.protein_seqs.get(ac) + + # Try versionless match + if seq is None and "." in ac: + base_ac = ac.split(".")[0] + seq = self.protein_seqs.get(base_ac) + + if seq is not None: + s_idx = start if start >= 0 else 0 + e_idx = end if end >= 0 else len(seq) + s = max(0, s_idx) + e = min(len(seq), e_idx) + return seq[int(s) : int(e)] + + # RefSeqDataProvider.get_seq expects a string for 'kind' in its implementation + # but the protocol/stub use IdentifierType. + kind_str = str(kind) + return self.refseq.get_seq(ac, start, end, kind_str) + + def get_symbol_accessions(self, symbol: str, source_kind: str, target_kind: str) -> list[tuple[str, str]]: + return self.refseq.get_symbol_accessions(symbol, source_kind, target_kind) + + +if os.path.exists(GFF_PATH) and os.path.exists(FASTA_PATH): + print("Initializing CombinedProvider...", file=sys.stderr) + provider = CombinedProvider(GFF_PATH, FASTA_PATH, PROTEIN_GPFF_PATH) + searcher = provider + mapper = weaver.VariantMapper(provider=provider) + print("Provider loaded.", file=sys.stderr) +else: + print("Real data not found, utilizing Mock Provider.", file=sys.stderr) + + class HeuristicMockProvider: + def __init__(self) -> None: + self.seq_cache: dict[str, str] = {} + + def get_identifier_type(self, identifier: str) -> "weaver.IdentifierType": + if ":" in identifier: + ac = identifier.split(":")[0] + if ac.startswith(("NM_", "XM_")): + return weaver.IdentifierType.TranscriptAccession + if ac.startswith(("NP_", "XP_")): + return weaver.IdentifierType.ProteinAccession + if ac.startswith("NC_"): + return weaver.IdentifierType.GenomicAccession + return weaver.IdentifierType.ProteinAccession + + def get_transcript(self, _transcript_ac: str, _reference_ac: str | None) -> dict[str, typing.Any]: + return {} + + def get_seq(self, _ac: str, _start: int, _end: int, _kind: "weaver.IdentifierType") -> str | None: + return None + + def get_symbol_accessions(self, _symbol: str, _source_kind: str, _target_kind: str) -> list[tuple[str, str]]: + return [] + + class MockSearcher: + def get_transcripts_for_region(self, _chrom: str, _start: int, _end: int) -> list[str]: + return [] + + provider = HeuristicMockProvider() + searcher = MockSearcher() + mapper = weaver.VariantMapper(provider=provider) + + +def clean_hgvs(s_raw: str) -> str: + """Cleans and standardizes HGVS protein strings for simple comparison.""" + if not s_raw: return "" # Remove accession prefix + s = s_raw if ":" in s: s = s.split(":")[-1] # Remove parentheses s = s.replace("(", "").replace(")", "") # Standardize Ter/* - return s.replace("Ter", "*") + s = s.replace("Ter", "*") + # Standardize silent variants: p.Ala465= -> p.= + return re.sub(r"p\.[A-Z][a-z][a-z]\d+=", "p.=", s) + + +def get_equivalence_level(v1_str: str, v2_str: str) -> typing.Optional["weaver.EquivalenceLevel"]: + """Checks for biological equivalence using weaver's sparse reference projection.""" + if not weaver or not v1_str or not v2_str or v1_str.startswith("ERR") or v2_str.startswith("ERR"): + return None + try: + # Robust parsing: ensure both have prefixes if one does + if ":" in v1_str and ":" not in v2_str: + ac = v1_str.split(":")[0] + v2_str = f"{ac}:{v2_str}" + elif ":" in v2_str and ":" not in v1_str: + ac = v2_str.split(":")[0] + v1_str = f"{ac}:{v1_str}" + elif ":" not in v1_str and ":" not in v2_str: + # Dummy prefix if none provided + v1_str = f"AC:p.{v1_str.replace('p.', '')}" + v2_str = f"AC:p.{v2_str.replace('p.', '')}" + + v1 = weaver.parse(v1_str) + v2 = weaver.parse(v2_str) + + return mapper.equivalent_level(v1, v2, searcher) + + except (ValueError, RuntimeError, AttributeError): + return None + + +def check_consistency(v_nuc_str: str, v_prot_str: str, ref_prot_str: str) -> bool: + """Checks if the nucleotide variant is biologically equivalent to the protein variant.""" + if not weaver or not v_nuc_str or not v_prot_str or v_prot_str.startswith("ERR"): + return False + + try: + # Normalize inputs + v_prot_str = v_prot_str.replace("(", "").replace(")", "") + + prot_ac = None + if ":" in ref_prot_str: + prot_ac = ref_prot_str.split(":")[0] + v_nuc = weaver.parse(v_nuc_str) -def classify(row: dict[str, str]) -> str: + # 1. Try recalculating p from c + try: + p_calc = mapper.c_to_p(v_nuc, prot_ac) + except (ValueError, RuntimeError, AttributeError): + # Failed to calculate + return False + + # 2. Check equivalence or string match + try: + parse_str = v_prot_str + if ":" not in parse_str and prot_ac: + parse_str = f"{prot_ac}:{parse_str}" + + v_prot = weaver.parse(parse_str) + if mapper.equivalent(p_calc, v_prot, searcher): + return True + except (ValueError, RuntimeError, AttributeError): + pass + + # Fallback to loose string comparison + if mapper is not None: + p_calc_loose = mapper.c_to_p(v_nuc) + return clean_hgvs(str(p_calc_loose)) == clean_hgvs(v_prot_str) + return False + + except (ValueError, RuntimeError, AttributeError): + return False + + +def classify(row: dict[str, str]) -> str: # noqa: C901, PLR0912 rs_p = row["rs_p"] ref_p = row["ref_p"] gt_p = row["variant_prot"] + var_nuc = row["variant_nuc"] c_rs = clean_hgvs(rs_p) c_gt = clean_hgvs(gt_p) @@ -27,9 +249,38 @@ def classify(row: dict[str, str]) -> str: category = "Other Mismatch" if c_rs != "" and c_rs == c_gt: - category = "ClinVar Match" + is_consistent = check_consistency(var_nuc, rs_p, gt_p) + category = f"ClinVar Match ({'Consistent' if is_consistent else 'Inconsistent'})" + elif (el := get_equivalence_level(rs_p, gt_p)) and el in [ + weaver.EquivalenceLevel.Identity, + weaver.EquivalenceLevel.Analogous, + ]: + el_name = repr(el).split(".")[-1] + is_consistent = check_consistency(var_nuc, rs_p, gt_p) + category = f"Biological Equivalence ({el_name}) ({'Consistent' if is_consistent else 'Inconsistent'}) - ClinVar" elif c_rs != "" and c_rs == c_ref: - category = "Parity Match" + # It matches reference string, so it's a Parity Match "on paper" + is_analogous_gt = False + try: + if mapper is not None: + el = get_equivalence_level(rs_p, gt_p) + if el == weaver.EquivalenceLevel.Analogous: + is_analogous_gt = True + except (ValueError, RuntimeError, AttributeError): + pass + + if is_analogous_gt: + # Check consistency with NUC to confirm + is_consistent = check_consistency(var_nuc, rs_p, gt_p) + category = f"Parity Match (Analogous to GT) ({'Consistent' if is_consistent else 'Inconsistent'})" + else: + category = "Parity Match (Not Analogous to GT)" + elif (el := get_equivalence_level(rs_p, ref_p)) and el in [ + weaver.EquivalenceLevel.Identity, + weaver.EquivalenceLevel.Analogous, + ]: + el_name = repr(el).split(".")[-1] + category = f"Biological Equivalence ({el_name}) - Parity" elif rs_p == "ERR" or rs_p.startswith("ERR:"): # Categorize known errors if "Transcript" in rs_p and "not found" in rs_p: @@ -52,9 +303,8 @@ def classify(row: dict[str, str]) -> str: return category -def main() -> None: - min_args = 2 - if len(sys.argv) < min_args: +def main() -> None: # noqa: C901 + if len(sys.argv) < MIN_ARGS_COUNT: print("Usage: classify_failures.py ") sys.exit(1) @@ -63,32 +313,40 @@ def main() -> None: mismatches: dict[str, list[dict[str, str]]] = collections.defaultdict(list) success_count = 0 - max_samples = 100 - - with open(sys.argv[1]) as f: + with open(sys.argv[1], encoding="utf-8") as f: reader = csv.DictReader(f, delimiter="\t") for row in reader: total += 1 cat = classify(row) stats[cat] = stats.get(cat, 0) + 1 - if cat in ["ClinVar Match"]: + if ("Match" in cat and "ClinVar" in cat) or ("Biological Equivalence" in cat and "ClinVar" in cat): success_count += 1 - elif len(mismatches[cat]) < max_samples: + elif len(mismatches[cat]) < MAX_SAMPLES_COUNT: mismatches[cat].append(row) print(f"Total variants: {total}") - print(f"Total Successes: {success_count} ({(success_count / total) * 100:.2f}%)") + print(f"Total Successes (Exact + Biological): {success_count} ({(success_count / total) * 100:.2f}%)") print(f"Total Failures: {total - success_count} ({((total - success_count) / total) * 100:.2f}%)") print("\nFailure breakdown (excluding successful matches):") for cat, count in sorted(stats.items(), key=lambda x: x[1], reverse=True): + if ("Match" in cat and "ClinVar" in cat) or ("Biological Equivalence" in cat and "ClinVar" in cat): + continue print(f" {cat}: {count} ({(count / (total - success_count)) * 100:.2f}% of failures)") + print("\nSuccess breakdown:") + for cat, count in sorted(stats.items(), key=lambda x: x[1], reverse=True): + if ("Match" in cat and "ClinVar" in cat) or ("Biological Equivalence" in cat and "ClinVar" in cat): + print(f" {cat}: {count} ({(count / total) * 100:.2f}%)") + if mismatches: print("\nSample Mismatches:") - # Sort samples to put delins first if we want to focus on them for cat, rows in sorted(mismatches.items(), key=lambda x: -len(x[1])): - if cat == "Provider Error (Missing Transcript)": + if ( + ("Match" in cat and "ClinVar" in cat) + or ("Biological Equivalence" in cat and "ClinVar" in cat) + or cat == "Provider Error (Missing Transcript)" + ): continue print(f"CAT: {cat}") for row in rows: diff --git a/scripts/historical_bench.py b/scripts/historical_bench.py index b595d33..89a4f94 100644 --- a/scripts/historical_bench.py +++ b/scripts/historical_bench.py @@ -69,14 +69,14 @@ def run( capture_output: bool = True, ) -> subprocess.CompletedProcess[str]: print(f"Running: {' '.join(cmd)}") - res = subprocess.run( + res = subprocess.run( # noqa: S603 cmd, check=False, capture_output=capture_output, text=True, cwd=cwd or REPO_ROOT, env=env, - ) # noqa: S603 + ) if check and res.returncode != 0: print(f"ERROR: Command failed with code {res.returncode}") print(f"STDOUT: {res.stdout}") @@ -202,7 +202,7 @@ def analyze(results_file: Path | None) -> Stats | None: return stats -def main() -> None: +def main() -> None: # noqa: PLR0915 parser = argparse.ArgumentParser(description="Benchmark historical commits.") parser.add_argument("--count", type=int, default=10, help="Number of commits to benchmark") parser.add_argument("--since", help="Commit hash to start from (exclusive)") diff --git a/scripts/update_readme_performance.py b/scripts/update_readme_performance.py index 964d2f2..56d46c2 100755 --- a/scripts/update_readme_performance.py +++ b/scripts/update_readme_performance.py @@ -7,14 +7,15 @@ # ] # /// +import io import json import re import subprocess -import io from pathlib import Path + +import matplotlib.pyplot as plt import pandas as pd import seaborn as sns -import matplotlib.pyplot as plt REPO_ROOT = Path(__file__).parent.parent.resolve() HISTORY_FILE = REPO_ROOT / "benchmark_results" / "history.json" @@ -23,7 +24,7 @@ def run(cmd: list[str]) -> str: - return subprocess.check_output(cmd, text=True, cwd=REPO_ROOT).strip() + return subprocess.check_output(cmd, text=True, cwd=REPO_ROOT, shell=False).strip() # noqa: S603 def get_tags() -> dict[str, str]: @@ -48,44 +49,111 @@ def get_current_version() -> str: return match.group(1) if match else "unknown" -def generate_svg(data_points: list[dict]): +def generate_svg(data_points: list[dict], mode: str = "light") -> str: # Prepare data for plotting - df = pd.DataFrame(data_points) - df_melted = df.melt(id_vars=["version"], value_vars=["p", "spdi"], var_name="Metric", value_name="Match %") + results_df = pd.DataFrame(data_points) + + # Set style based on mode + if mode == "dark": + # GitHub dark mode colors: bg=#0d1117, grid=#30363d + sns.set_theme( + style="darkgrid", + context="talk", + rc={ + "axes.facecolor": "#0d1117", + "figure.facecolor": "#0d1117", + "text.color": "#e6edf3", + "axes.labelcolor": "#e6edf3", + "xtick.color": "#e6edf3", + "ytick.color": "#e6edf3", + "grid.color": "#30363d", + "patch.edgecolor": "#30363d", + }, + ) + else: + sns.set_theme(style="whitegrid", context="talk") + + _fig, ax = plt.subplots(figsize=(12, 6)) + + # Standardize data: Identity and Analogous as percentages + results_df["Identity %"] = (results_df["identity"] / results_df["total"]) * 100 + results_df["Analogous %"] = (results_df["analogous"] / results_df["total"]) * 100 - # Rename metrics for better legend - df_melted["Metric"] = df_melted["Metric"].map({"p": "Protein Match %", "spdi": "SPDI Match %"}) + versions = results_df["version"].unique() + tools = ["Weaver", "Ref-HGVS"] - # Set style - sns.set_theme(style="whitegrid", context="talk") - plt.figure(figsize=(10, 5)) + x = range(len(versions)) + width = 0.35 # width of bars - # Create plot - palette = {"Protein Match %": "#3498db", "SPDI Match %": "#2ecc71"} - ax = sns.lineplot(data=df_melted, x="version", y="Match %", hue="Metric", marker="o", palette=palette, linewidth=3) + # Colors + # Blue for Weaver, Green for Ref + if mode == "dark": + colors = { + ("Weaver", "Identity"): "#2980b9", + ("Weaver", "Analogous"): "#5dade2", + ("Ref-HGVS", "Identity"): "#27ae60", + ("Ref-HGVS", "Analogous"): "#52be80", + } + else: + colors = { + ("Weaver", "Identity"): "#3498db", + ("Weaver", "Analogous"): "#85c1e9", + ("Ref-HGVS", "Identity"): "#27ae60", + ("Ref-HGVS", "Analogous"): "#7dcea0", + } + + for i, tool in enumerate(tools): + tool_df = results_df[results_df["tool"] == tool] + + # Calculate offsets for grouped bars + offset = (i - 0.5) * width + + # Identity bar + _rects1 = ax.bar( + [pos + offset for pos in x], + tool_df["Identity %"], + width, + label=f"{tool} Identity", + color=colors[(tool, "Identity")], + edgecolor="#ffffff" if mode == "light" else "#0d1117", + ) + + # Analogous bar (stacked) + bottom = tool_df["Identity %"].values + _rects2 = ax.bar( + [pos + offset for pos in x], + tool_df["Analogous %"], + width, + bottom=bottom, + label=f"{tool} Analogous", + color=colors[(tool, "Analogous")], + edgecolor="#ffffff" if mode == "light" else "#0d1117", + ) # Customize labels and title - plt.title("Performance Trend (100k Variants)", fontsize=16, pad=20) - plt.xlabel("Version", fontsize=14) + plt.title("Protein Projection Performance (100k ClinVar Variants)", fontsize=18, pad=20) + plt.xlabel("Release", fontsize=14) plt.ylabel("Match %", fontsize=14) - plt.ylim(80, 100) + plt.ylim(85, 100) # Zoom in on the high performance range + plt.xticks(x, versions) + + # Legend cleanup + legend = plt.legend(title=None, bbox_to_anchor=(1.02, 1), loc="upper left", borderaxespad=0.0) + if mode == "dark": + plt.setp(legend.get_texts(), color="#e6edf3") - # Adjust legend - plt.legend(title=None, bbox_to_anchor=(1.05, 1), loc="upper left") plt.tight_layout() # Save to SVG string img_data = io.StringIO() - plt.savefig(img_data, format="svg", bbox_inches="tight") + plt.savefig(img_data, format="svg", bbox_inches="tight", transparent=True) plt.close() - svg_str = img_data.getvalue() - # Strip everything before None: if not HISTORY_FILE.exists(): print(f"Error: {HISTORY_FILE} not found.") return @@ -103,14 +171,32 @@ def update_readme(): commit = entry["commit"][:7] version = tags.get(commit) - if not version and entry == history[0]: - if current_version not in tags.values(): - version = f"{current_version} (dev)" + if not version and entry == history[0] and current_version not in tags.values(): + version = f"{current_version} (dev)" if version and version not in seen_versions: seen_versions.add(version) + + # Add Weaver data point + data_points.append( + { + "version": version, + "tool": "Weaver", + "identity": entry.get("w_identity", entry.get("p_match", 0)), + "analogous": entry.get("w_analogous", 0), + "total": entry["total"], + }, + ) + + # Add Ref data point data_points.append( - {"version": version, "p": round(entry["p_perc"], 2), "spdi": round(entry["spdi_perc"], 2)} + { + "version": version, + "tool": "Ref-HGVS", + "identity": entry.get("ref_identity", 0), + "analogous": entry.get("ref_analogous", 0), + "total": entry["total"], + }, ) data_points.reverse() @@ -119,20 +205,36 @@ def update_readme(): print("No valid data points found for graph.") return - svg_content = generate_svg(data_points) + # Generate light and dark versions + svg_light = generate_svg(data_points, mode="light") + svg_dark = generate_svg(data_points, mode="dark") - # Inject into README + # Save to files + (REPO_ROOT / "benchmark_results" / "performance_light.svg").write_text(svg_light) + (REPO_ROOT / "benchmark_results" / "performance_dark.svg").write_text(svg_dark) + + # Inject into README using for theme awareness content = README_FILE.read_text() start_marker = "" end_marker = "" + svg_tag = """ +

+ + + + Performance Graph + +

+""" + pattern = re.compile(f"{start_marker}.*?{end_marker}", re.DOTALL) - replacement = f'{start_marker}\n\n

\n{svg_content}\n

\n\n{end_marker}' + replacement = f"{start_marker}\n{svg_tag}\n{end_marker}" if start_marker in content and end_marker in content: new_content = pattern.sub(replacement, content) README_FILE.write_text(new_content) - print("README.md updated with SVG performance graph.") + print("README.md updated with theme-aware performance graph.") else: print("Error: Performance markers not found in README.md") diff --git a/src/lib.rs b/src/lib.rs index effa404..e21487f 100644 --- a/src/lib.rs +++ b/src/lib.rs @@ -30,8 +30,8 @@ fn map_hgvs_error(e: HgvsError) -> PyErr { } #[gen_stub_pyclass_enum] -#[pyclass(name = "IdentifierType")] -#[derive(Debug, Clone, Copy, PartialEq, Eq)] +#[pyclass(name = "IdentifierType", module = "weaver._weaver")] +#[derive(Debug, Clone, Copy, PartialEq, Eq, Hash)] pub enum PyIdentifierType { GenomicAccession, TranscriptAccession, @@ -76,8 +76,61 @@ impl From<::hgvs_weaver::data::IdentifierType> for PyIdentifierType { } } +#[gen_stub_pymethods] +#[pymethods] +impl PyIdentifierType { + fn __repr__(&self) -> String { + format!("IdentifierType.{:?}", self) + } + fn __eq__(&self, other: &Self) -> bool { + self == other + } + fn __hash__(&self) -> u64 { + let mut s = std::collections::hash_map::DefaultHasher::new(); + std::hash::Hash::hash(self, &mut s); + std::hash::Hasher::finish(&s) + } +} + +#[gen_stub_pyclass_enum] +#[pyclass(name = "EquivalenceLevel", module = "weaver._weaver")] +#[derive(Debug, Clone, Copy, PartialEq, Eq, Hash)] +pub enum PyEquivalenceLevel { + Identity, + Analogous, + Different, + Unknown, +} + +impl From<::hgvs_weaver::equivalence::EquivalenceLevel> for PyEquivalenceLevel { + fn from(el: ::hgvs_weaver::equivalence::EquivalenceLevel) -> Self { + match el { + ::hgvs_weaver::equivalence::EquivalenceLevel::Identity => Self::Identity, + ::hgvs_weaver::equivalence::EquivalenceLevel::Analogous => Self::Analogous, + ::hgvs_weaver::equivalence::EquivalenceLevel::Different => Self::Different, + ::hgvs_weaver::equivalence::EquivalenceLevel::Unknown => Self::Unknown, + } + } +} + +#[gen_stub_pymethods] +#[pymethods] +impl PyEquivalenceLevel { + fn __repr__(&self) -> String { + format!("EquivalenceLevel.{:?}", self) + } + fn __eq__(&self, other: &Self) -> bool { + self == other + } + fn __hash__(&self) -> u64 { + let mut s = std::collections::hash_map::DefaultHasher::new(); + std::hash::Hash::hash(self, &mut s); + std::hash::Hasher::finish(&s) + } +} + #[gen_stub_pyclass] -#[pyclass(name = "Variant")] +#[pyclass(name = "Variant", module = "weaver._weaver")] #[doc = "Represents a parsed HGVS variant.\n\nProvides access to the variant's accession, gene symbol, and coordinate type.\nVariants can be formatted back to HGVS strings or converted to JSON/dict representations."] #[derive(Clone)] pub struct PyVariant { @@ -441,7 +494,7 @@ impl TranscriptSearch for PyTranscriptSearchBridge { } #[gen_stub_pyclass] -#[pyclass(name = "VariantMapper")] +#[pyclass(name = "VariantMapper", module = "weaver._weaver")] #[doc = "High-level variant mapping engine.\n\nCoordinates mapping between different reference sequences (e.g., g. to c.)\nand projects cDNA variants onto protein sequences (c. to p.).\nRequires a DataProvider to retrieve transcript and sequence information."] pub struct PyVariantMapper { pub bridge: std::sync::Arc, @@ -598,6 +651,26 @@ impl PyVariantMapper { .map_err(map_hgvs_error) } + #[pyo3(signature = (var1, var2, searcher))] + #[doc = "Determines the granular equivalence level of two variants.\n\nArgs:\n var1: The first Variant object.\n var2: The second Variant object.\n searcher: An object implementing the TranscriptSearch protocol.\n\nReturns:\n An EquivalenceLevel enum value."] + fn equivalent_level( + &self, + _py: Python, + var1: &PyVariant, + var2: &PyVariant, + searcher: Py, + ) -> PyResult { + let bridge_searcher = PyTranscriptSearchBridge { searcher }; + let equiv = ::hgvs_weaver::equivalence::VariantEquivalence::new( + self.bridge.as_ref(), + &bridge_searcher, + ); + let res = equiv + .equivalent_level(&var1.inner, &var2.inner) + .map_err(map_hgvs_error)?; + Ok(res.into()) + } + #[pyo3(signature = (var, unambiguous = false))] #[doc = "Converts a variant to a SPDI string format.\n\nArgs:\n var: The Variant object to convert.\n unambiguous: If True, expands the variant range to cover the entire ambiguous region of a repeat or homopolymer. Default is False."] fn to_spdi(&self, _py: Python, var: &PyVariant, unambiguous: bool) -> PyResult { @@ -621,6 +694,7 @@ fn _weaver(m: &Bound<'_, PyModule>) -> PyResult<()> { m.add_class::()?; m.add_class::()?; m.add_class::()?; + m.add_class::()?; m.add( "TranscriptMismatchError", m.py().get_type::(), diff --git a/tests/test_hgvs_eval_integration.py b/tests/test_hgvs_eval_integration.py index f131ac1..854e451 100644 --- a/tests/test_hgvs_eval_integration.py +++ b/tests/test_hgvs_eval_integration.py @@ -145,7 +145,7 @@ class EvalCase: ), pytest.param( EvalCase( - input="NM_005813.3:c.2673insA", + input="NM_005813.3:c.2673insG", output_preferred="NM_005813.3:c.2673dup", data="RefSeq", ), diff --git a/uv.lock b/uv.lock index 5904978..fc8d639 100644 --- a/uv.lock +++ b/uv.lock @@ -413,7 +413,7 @@ wheels = [ [[package]] name = "hgvs-weaver" -version = "0.2.0" +version = "0.3.0" source = { editable = "." } dependencies = [ { name = "defusedxml" }, diff --git a/weaver/__init__.py b/weaver/__init__.py index 78997b7..cca5d9a 100644 --- a/weaver/__init__.py +++ b/weaver/__init__.py @@ -1,6 +1,7 @@ from typing import Protocol, TypedDict from ._weaver import ( + EquivalenceLevel, IdentifierType, TranscriptMismatchError, Variant, @@ -10,6 +11,7 @@ __all__ = [ "DataProvider", + "EquivalenceLevel", "ExonData", "IdentifierType", "TranscriptData", diff --git a/weaver/_weaver.pyi b/weaver/_weaver.pyi index 30d7622..d9c45f0 100644 --- a/weaver/_weaver.pyi +++ b/weaver/_weaver.pyi @@ -1,4 +1,5 @@ # This file is automatically generated by pyo3_stub_gen +# ruff: noqa: E501 import builtins import enum @@ -92,8 +93,7 @@ class VariantMapper: Args: var_c: The coding Variant to map. - reference_ac: Optional chromosomal accession. If not provided, - the primary chromosome for the transcript will be used. + reference_ac: Optional chromosomal accession. If not provided, the primary chromosome for the transcript will be used. Returns: A new Variant object in 'g.' coordinates. @@ -146,24 +146,46 @@ class VariantMapper: Returns: True if the variants are equivalent, False otherwise. """ + def equivalent_level(self, var1: Variant, var2: Variant, searcher: typing.Any) -> EquivalenceLevel: + r""" + Determines the granular equivalence level of two variants. + + Args: + var1: The first Variant object. + var2: The second Variant object. + searcher: An object implementing the TranscriptSearch protocol. + + Returns: + An EquivalenceLevel enum value. + """ def to_spdi(self, var: Variant, unambiguous: builtins.bool = False) -> builtins.str: r""" Converts a variant to a SPDI string format. Args: var: The Variant object to convert. - unambiguous: If True, expands the variant range to cover the entire - ambiguous region of a repeat or homopolymer. Default is False. + unambiguous: If True, expands the variant range to cover the entire ambiguous region of a repeat or homopolymer. Default is False. """ def to_spdi_unambiguous(self, var: Variant) -> builtins.str: r""" Converts a variant to an unambiguous SPDI string format. This format is independent of specific shifting conventions (like 3' or 5' shifting) - by expanding the variant range to cover the entire ambiguous region of a repeat - or homopolymer. + by expanding the variant range to cover the entire ambiguous region of a repeat or homopolymer. """ +class TranscriptMismatchError(builtins.Exception): ... + +@typing.final +class EquivalenceLevel(enum.Enum): + Identity = ... + Analogous = ... + Different = ... + Unknown = ... + + def __eq__(self, other: builtins.object) -> builtins.bool: ... + def __hash__(self) -> builtins.int: ... + @typing.final class IdentifierType(enum.Enum): GenomicAccession = ... @@ -172,6 +194,9 @@ class IdentifierType(enum.Enum): GeneSymbol = ... Unknown = ... + def __eq__(self, other: builtins.object) -> builtins.bool: ... + def __hash__(self) -> builtins.int: ... + def parse(input: builtins.str) -> Variant: r""" Parses an HGVS string into a Variant object. @@ -188,6 +213,3 @@ def parse(input: builtins.str) -> Variant: Raises: ValueError: If the HGVS string is malformed or unsupported. """ - -class TranscriptMismatchError(ValueError): - """Transcript reference sequence mismatch.""" diff --git a/weaver/cli/provider.py b/weaver/cli/provider.py index e967d21..b6d0490 100644 --- a/weaver/cli/provider.py +++ b/weaver/cli/provider.py @@ -156,6 +156,8 @@ def __init__(self, gff_path: str, fasta_path: str) -> None: self._load_gff() self.fasta = SequenceProxy(fasta_path) + self._transcript_cache: dict[tuple[str, str], str] = {} + def _load_gff(self) -> None: """Parses the GFF file into internal transcript models.""" logger.info("Loading RefSeq GFF from %s into memory...", self.gff_path) @@ -329,15 +331,30 @@ def get_seq(self, ac: str, start: int, end: int, kind: str, force_plus: bool = F """Retrieves a sequence from the provider. ... """ - kind = str(kind) - if kind in {"p", "protein_accession"}: + kind = str(kind).lower() + if "proteinaccession" in kind or kind in {"p", "protein_accession"}: res = self.accession_map.get(ac) if not res: return "" tx_ac, chrom = res - return self._get_tx_seq(tx_ac, chrom, start, end, force_plus=force_plus).upper() + tx_seq = self._get_tx_seq(tx_ac, chrom, 0, -1, force_plus=force_plus).upper() + + tx_info = self.transcripts.get((tx_ac, chrom)) + if not tx_info or tx_info.get("cds_start_index") is None: + return "" + + cds_start = tx_info["cds_start_index"] + cds_end = tx_info["cds_end_index"] + + if cds_start is not None and cds_end is not None: + cds_seq = tx_seq[cds_start : cds_end + 1] + translated = self._translate_cds(cds_seq) + if end == -1 or end is None: + return translated[start:] + return translated[start:end] + return "" - if "transcript" in kind.lower() or kind == "c": + if "transcript" in kind.lower() or kind.lower() == "c": # Need to decide which reference to use if multiple exist refs = self.tx_to_refs.get(ac) if not refs: @@ -362,23 +379,39 @@ def get_seq(self, ac: str, start: int, end: int, kind: str, force_plus: bool = F logger.error("Error fetching genomic seq for %s: %s", ac, e) return "" - def _get_tx_seq(self, tx_ac: str, ref_ac: str, start: int, end: int, force_plus: bool = False) -> str: - """Builds a transcript sequence from genomic exons.""" + def _get_full_tx_seq(self, tx_ac: str, ref_ac: str) -> str: + """Builds and caches the full transcript sequence (respecting strand).""" tx = self.transcripts.get((tx_ac, ref_ac)) if not tx: return "" seq_parts = [] - exons = tx["exons"] - if force_plus: - # Sort by genomic coordinate ascending - exons = sorted(exons, key=lambda x: x["reference_start"]) - - for exon in exons: + # Exons are already ordered 5' -> 3' in tx["exons"] + for exon in tx["exons"]: s = self.fasta.fetch(tx["reference_accession"], exon["reference_start"], exon["reference_end"] + 1) - if not force_plus and tx["strand"] == -1: + if tx["strand"] == -1: s = self.reverse_complement(s) seq_parts.append(s) - full_seq = "".join(seq_parts) + return "".join(seq_parts) + + def _get_full_tx_seq_cached(self, tx_ac: str, ref_ac: str) -> str: + try: + return self._transcript_cache[(tx_ac, ref_ac)] + except KeyError: + self._transcript_cache[(tx_ac, ref_ac)] = self._get_full_tx_seq(tx_ac, ref_ac) + return self._transcript_cache[(tx_ac, ref_ac)] + + def _get_tx_seq(self, tx_ac: str, ref_ac: str, start: int, end: int, force_plus: bool = False) -> str: + """Builds a transcript sequence from genomic exons with optional transformations.""" + tx = self.transcripts.get((tx_ac, ref_ac)) + if not tx: + return "" + + full_seq = self._get_full_tx_seq_cached(tx_ac, ref_ac) + + if force_plus and tx["strand"] == -1: + # reverse_complement(natural_seq) gives genomic-plus orientation + full_seq = self.reverse_complement(full_seq) + if end == -1 or end is None: return full_seq[start:] return full_seq[start:end] @@ -447,6 +480,81 @@ def reverse_complement(self, seq: str) -> str: complement = str.maketrans("ATCGNautcgn", "TAGCNtagcgn") return seq.translate(complement)[::-1] + def _translate_cds(self, seq: str) -> str: + """Translates a CDS nucleotide sequence into an amino acid sequence (1-letter codes).""" + codon_table = { + "ATA": "I", + "ATC": "I", + "ATT": "I", + "ATG": "M", + "ACA": "T", + "ACC": "T", + "ACG": "T", + "ACT": "T", + "AAC": "N", + "AAT": "N", + "AAA": "K", + "AAG": "K", + "AGC": "S", + "AGT": "S", + "AGA": "R", + "AGG": "R", + "CTA": "L", + "CTC": "L", + "CTG": "L", + "CTT": "L", + "CCA": "P", + "CCC": "P", + "CCG": "P", + "CCT": "P", + "CAC": "H", + "CAT": "H", + "CAA": "Q", + "CAG": "Q", + "CGA": "R", + "CGC": "R", + "CGG": "R", + "CGT": "R", + "GTA": "V", + "GTC": "V", + "GTG": "V", + "GTT": "V", + "GCA": "A", + "GCC": "A", + "GCG": "A", + "GCT": "A", + "GAC": "D", + "GAT": "D", + "GAA": "E", + "GAG": "E", + "GGA": "G", + "GGC": "G", + "GGG": "G", + "GGT": "G", + "TCA": "S", + "TCC": "S", + "TCG": "S", + "TCT": "S", + "TTC": "F", + "TTT": "F", + "TTA": "L", + "TTG": "L", + "TAC": "Y", + "TAT": "Y", + "TAA": "*", + "TAG": "*", + "TGC": "C", + "TGT": "C", + "TGA": "*", + "TGG": "W", + } + protein = [] + seq = seq.upper() + for i in range(0, len(seq) - len(seq) % 3, 3): + codon = seq[i : i + 3] + protein.append(codon_table.get(codon, "X")) + return "".join(protein) + def c_to_g(self, transcript_ac: str, pos: int, offset: int) -> tuple[str, int]: """Resolves a transcript position and offset to a genomic accession and position. diff --git a/weaver/cli/validate.py b/weaver/cli/validate.py index 9d4e9f8..7b797fb 100644 --- a/weaver/cli/validate.py +++ b/weaver/cli/validate.py @@ -85,9 +85,11 @@ def process_variant(row: dict[str, str]) -> dict[str, str]: v_rs_raw = weaver.parse(nuc_hgvs) if not _rs_mapper: row["rs_p"] = row["rs_spdi"] = "ERR:MapperNotInit" + row["equivalence_level"] = "ERR:MapperNotInit" return row v_rs = _rs_mapper.normalize_variant(v_rs_raw) + v_p = None try: if v_rs.coordinate_type == "c": v_p = _rs_mapper.c_to_p(v_rs) @@ -103,10 +105,29 @@ def process_variant(row: dict[str, str]) -> dict[str, str]: rs_spdi = f"ERR:TranscriptMismatch:{e!s}" except Exception as e: rs_spdi = f"ERR:{e!s}" + + # Equivalence Check + equiv_level = "Unknown" + gt_p_str = row.get("variant_prot", "") + if v_p and gt_p_str and gt_p_str != "ERR" and not gt_p_str.startswith("ERR"): + try: + # normalize ground truth string if needed (e.g. remove parens if parse fails? + # actually weaver.parse handles standard HGVS well) + # Ensure accession is present if missing from string but known? + # ClinVar string usually has accession. + v_gt = weaver.parse(gt_p_str) + lvl = _rs_mapper.equivalent_level(v_p, v_gt, _rp) + equiv_level = str(lvl).split(".")[-1] + except Exception as e: + equiv_level = f"ERR:{e!s}" + row["equivalence_level"] = equiv_level + except Exception as e: rs_p = rs_spdi = f"ERR:{e!s}" + row["equivalence_level"] = f"ERR:{e!s}" except BaseException: # Catch absolutely everything including panics rs_p = rs_spdi = "PANIC" + row["equivalence_level"] = "PANIC" # ref-hgvs block try: @@ -152,7 +173,7 @@ def main() -> None: with open(args.input_file) as f_in: reader = csv.DictReader(f_in, delimiter="\t") - fieldnames = [*(reader.fieldnames or []), "rs_p", "rs_spdi", "ref_p", "ref_spdi"] + fieldnames = [*(reader.fieldnames or []), "rs_p", "rs_spdi", "ref_p", "ref_spdi", "equivalence_level"] rows: list[dict[str, str]] = ( [next(reader) for _ in range(args.max_variants)] if args.max_variants else list(reader) )